Public CATVariant protein variant analysis results

Indexed public analyses

• ABCA1 (O95477) variants and mutations - accession O95477, Homo sapiens, 2727 variants
• ABCA3 (Q99758) variants and mutations - accession Q99758, Homo sapiens, 2358 variants
• ABCA4 (P78363) variants and mutations - accession P78363, Homo sapiens, 3721 variants
• ABCB1 (ATP-dependent translocase ABCB1) variants and mutations - accession P08183, Homo sapiens, 2420 variants
• ABCC1 (P33527) variants and mutations - accession P33527, Homo sapiens, 1867 variants
• ABCC2 (Q92887) variants and mutations - accession Q92887, Homo sapiens, 2064 variants
• ABCC4 (O15439) variants and mutations - accession O15439, Homo sapiens, 1564 variants
• ABCC6 (O95255) variants and mutations - accession O95255, Homo sapiens, 2321 variants
• ABCC8 (Q09428) variants and mutations - accession Q09428, Homo sapiens, 2466 variants
• ABCC9 (O60706) variants and mutations - accession O60706, Homo sapiens, 2246 variants
• ABCD1 (P33897) variants and mutations - accession P33897, Homo sapiens, 1619 variants
• ABCG2 (Q9UNQ0) variants and mutations - accession Q9UNQ0, Homo sapiens, 1023 variants
• ABCG5 (Q9H222) variants and mutations - accession Q9H222, Homo sapiens, 1285 variants
• ABCG8 (Q9H221) variants and mutations - accession Q9H221, Homo sapiens, 1424 variants
• ABL1 (Tyrosine-protein kinase ABL1) variants and mutations - accession P00519, Homo sapiens, 2305 variants
• ABL2 (Tyrosine-protein kinase ABL2) variants and mutations - accession P42684, Homo sapiens, 2040 variants
• ACAD9 (Q9H845) variants and mutations - accession Q9H845, Homo sapiens, 967 variants
• ACADM (P11310) variants and mutations - accession P11310, Homo sapiens, 806 variants
• ACADVL (P49748) variants and mutations - accession P49748, Homo sapiens, 1265 variants
• ACAN (Aggrecan core protein) variants and mutations - accession P16112, Homo sapiens, 3035 variants
• ACAT1 (P24752) variants and mutations - accession P24752, Homo sapiens, 715 variants
• ACE (Angiotensin-converting enzyme) variants and mutations - accession P12821, Homo sapiens, 2145 variants
• ACE2 (Angiotensin-converting enzyme 2) variants and mutations - accession Q9BYF1, Homo sapiens, 907 variants
• ACTA2 (Actin, aortic smooth muscle) variants and mutations - accession P62736, Homo sapiens, 668 variants
• ACTC1 (Actin, alpha cardiac muscle 1) variants and mutations - accession P68032, Homo sapiens, 684 variants
• ACTN2 (Alpha-actinin-2) variants and mutations - accession P35609, Homo sapiens, 1713 variants
• ACVR1 (Activin receptor type-1) variants and mutations - accession Q04771, Homo sapiens, 875 variants
• ACVRL1 (Activin receptor type-1-like) variants and mutations - accession P37023, Homo sapiens, 1141 variants
• ADA (Adenosine deaminase) variants and mutations - accession P00813, Homo sapiens, 700 variants
• ADAMTS13 (Q76LX8) variants and mutations - accession Q76LX8, Homo sapiens, 1947 variants
• ADCY5 (Adenylate cyclase type 5) variants and mutations - accession O95622, Homo sapiens, 1842 variants
• ADD1 (Alpha-adducin) variants and mutations - accession P35611, Homo sapiens, 596 variants
• ADH1B (P00325) variants and mutations - accession P00325, Homo sapiens, 762 variants
• ADNP (Q9H2P0) variants and mutations - accession Q9H2P0, Homo sapiens, 1775 variants
• AGL (Glycogen debranching enzyme) variants and mutations - accession P35573, Homo sapiens, 2357 variants
• AGRN (Agrin) variants and mutations - accession O00468, Homo sapiens, 107 variants
• AGT (Angiotensinogen) variants and mutations - accession P01019, Homo sapiens, 848 variants
• AGTR1 (Type-1 angiotensin II receptor) variants and mutations - accession P30556, Homo sapiens, 887 variants
• AGTRAP (Q6RW13) variants and mutations - accession Q6RW13, Homo sapiens, 277 variants
• AGXT (P21549) variants and mutations - accession P21549, Homo sapiens, 841 variants
• AICDA (Q9GZX7) variants and mutations - accession Q9GZX7, Homo sapiens, 504 variants
• AIP (AH receptor-interacting protein) variants and mutations - accession O00170, Homo sapiens, 793 variants
• AIRE (Autoimmune regulator) variants and mutations - accession O43918, Homo sapiens, 1149 variants
• AKT1 (P31749) variants and mutations - accession P31749, Homo sapiens, 1384 variants
• AKT2 (P31751) variants and mutations - accession P31751, Homo sapiens, 950 variants
• AKT3 (Q9Y243) variants and mutations - accession Q9Y243, Homo sapiens, 816 variants
• ALDH2 (P05091) variants and mutations - accession P05091, Homo sapiens, 761 variants
• ALDH5A1 (P51649) variants and mutations - accession P51649, Homo sapiens, 1225 variants
• ALDOB (Fructose-bisphosphate aldolase B) variants and mutations - accession P05062, Homo sapiens, 814 variants
• ALK (ALK tyrosine kinase receptor) variants and mutations - accession Q9UM73, Homo sapiens, 6292 variants
• ALMS1 (Q8TCU4) variants and mutations - accession Q8TCU4, Homo sapiens, 6651 variants
• ALPL (P05186) variants and mutations - accession P05186, Homo sapiens, 1006 variants
• AMH (Anti-Muellerian hormone) variants and mutations - accession P03971, Homo sapiens, 1383 variants
• ANGPTL3 (Angiopoietin-related protein 3) variants and mutations - accession Q9Y5C1, Homo sapiens, 872 variants
• ANGPTL4 (Angiopoietin-related protein 4) variants and mutations - accession Q9BY76, Homo sapiens, 935 variants
• ANK2 (Ankyrin-2) variants and mutations - accession Q01484, Homo sapiens, 6887 variants
• ANKRD1 (Q15327) variants and mutations - accession Q15327, Homo sapiens, 605 variants
• APC (Adenomatous polyposis coli protein) variants and mutations - accession P25054, Homo sapiens, 14982 variants
• APOA1 (Apolipoprotein A-I) variants and mutations - accession P02647, Homo sapiens, 729 variants
• APOA5 (Apolipoprotein A-V) variants and mutations - accession Q6Q788, Homo sapiens, 999 variants
• APOB (Apolipoprotein B-100) variants and mutations - accession P04114, Homo sapiens, 7169 variants
• APOC2 (Apolipoprotein C-II) variants and mutations - accession P02655, Homo sapiens, 240 variants
• APOC3 (Apolipoprotein C-III) variants and mutations - accession P02656, Homo sapiens, 257 variants
• APOE (Apolipoprotein E) variants and mutations - accession P02649, Homo sapiens, 678 variants
• APOH (Beta-2-glycoprotein 1) variants and mutations - accession P02749, Homo sapiens, 680 variants
• APOL1 (Apolipoprotein L1) variants and mutations - accession O14791, Homo sapiens, 747 variants
• APP (Amyloid-beta precursor protein) variants and mutations - accession P05067, Homo sapiens, 1078 variants
• AQP1 (Aquaporin-1) variants and mutations - accession P29972, Homo sapiens, 634 variants
• AQP2 (Aquaporin-2) variants and mutations - accession P41181, Homo sapiens, 675 variants
• AQP3 (Aquaporin-3) variants and mutations - accession Q92482, Homo sapiens, 500 variants
• AQP4 (Aquaporin-4) variants and mutations - accession P55087, Homo sapiens, 702 variants
• AQP5 (Aquaporin-5) variants and mutations - accession P55064, Homo sapiens, 636 variants
• AQP7 (Aquaporin-7) variants and mutations - accession O14520, Homo sapiens, 744 variants
• AR (Androgen receptor) variants and mutations - accession P10275, Homo sapiens, 4045 variants
• ARAF (P10398) variants and mutations - accession P10398, Homo sapiens, 1137 variants
• ARID1A (O14497) variants and mutations - accession O14497, Homo sapiens, 10785 variants
• ARID1B (Q8NFD5) variants and mutations - accession Q8NFD5, Homo sapiens, 7506 variants
• ARID2 (Q68CP9) variants and mutations - accession Q68CP9, Homo sapiens, 7631 variants
• ARNT (P27540) variants and mutations - accession P27540, Homo sapiens, 1019 variants
• ASH1L (Q9NR48) variants and mutations - accession Q9NR48, Homo sapiens, 3636 variants
• ASIC1 (Acid-sensing ion channel 1) variants and mutations - accession P78348, Homo sapiens, 864 variants
• ASS1 (Argininosuccinate synthase) variants and mutations - accession P00966, Homo sapiens, 786 variants
• ASXL1 (Polycomb group protein ASXL1) variants and mutations - accession Q8IXJ9, Homo sapiens, 4107 variants
• ASXL3 (Q9C0F0) variants and mutations - accession Q9C0F0, Homo sapiens, 2726 variants
• ATL1 (Atlastin-1) variants and mutations - accession Q8WXF7, Homo sapiens, 761 variants
• ATM (Serine-protein kinase ATM) variants and mutations - accession Q13315, Homo sapiens, 14477 variants
• ATP13A2 (Q9NQ11) variants and mutations - accession Q9NQ11, Homo sapiens, 1695 variants
• ATP1A1 (P05023) variants and mutations - accession P05023, Homo sapiens, 936 variants
• ATP1A2 (P50993) variants and mutations - accession P50993, Homo sapiens, 1218 variants
• ATP1A3 (P13637) variants and mutations - accession P13637, Homo sapiens, 827 variants
• ATP6V0A4 (Q9HBG4) variants and mutations - accession Q9HBG4, Homo sapiens, 1160 variants
• ATP6V1A (P38606) variants and mutations - accession P38606, Homo sapiens, 725 variants
• ATP6V1B1 (P15313) variants and mutations - accession P15313, Homo sapiens, 861 variants
• ATP7A (Copper-transporting ATPase 1) variants and mutations - accession Q04656, Homo sapiens, 1950 variants
• ATP7B (Copper-transporting ATPase 2) variants and mutations - accession P35670, Homo sapiens, 2584 variants
• ATRX (Chromatin remodeler ATRX) variants and mutations - accession P46100, Homo sapiens, 7549 variants
• ATXN1 (Ataxin-1) variants and mutations - accession P54253, Homo sapiens, 1547 variants
• ATXN2 (Ataxin-2) variants and mutations - accession Q99700, Homo sapiens, 1893 variants
• ATXN3 (Ataxin-3) variants and mutations - accession P54252, Homo sapiens, 545 variants
• AURKA (Aurora kinase A) variants and mutations - accession O14965, Homo sapiens, 967 variants
• AURKB (Aurora kinase B) variants and mutations - accession Q96GD4, Homo sapiens, 796 variants
• AVPR2 (Vasopressin V2 receptor) variants and mutations - accession P30518, Homo sapiens, 872 variants
• AXL (P30530) variants and mutations - accession P30530, Homo sapiens, 1797 variants
• B2M (Beta-2-microglobulin) variants and mutations - accession P61769, Homo sapiens, 525 variants
• BACH2 (Q9BYV9) variants and mutations - accession Q9BYV9, Homo sapiens, 1427 variants
• BAG3 (O95817) variants and mutations - accession O95817, Homo sapiens, 1223 variants
• BAK1 (Q16611) variants and mutations - accession Q16611, Homo sapiens, 414 variants
• BARD1 (Q99728) variants and mutations - accession Q99728, Homo sapiens, 2631 variants
• BAX (Apoptosis regulator BAX) variants and mutations - accession Q07812, Homo sapiens, 431 variants
• BBS1 (BBSome complex member BBS1) variants and mutations - accession Q8NFJ9, Homo sapiens, 912 variants
• BBS2 (BBSome complex member BBS2) variants and mutations - accession Q9BXC9, Homo sapiens, 1104 variants
• BBS4 (BBSome complex member BBS4) variants and mutations - accession Q96RK4, Homo sapiens, 772 variants
• BCL10 (B-cell lymphoma/leukemia 10) variants and mutations - accession O95999, Homo sapiens, 478 variants
• BCL11B (B-cell lymphoma/leukemia 11B) variants and mutations - accession Q9C0K0, Homo sapiens, 1664 variants
• BCL2 (Apoptosis regulator Bcl-2) variants and mutations - accession P10415, Homo sapiens, 937 variants
• BCL2L1 (Bcl-2-like protein 1) variants and mutations - accession Q07817, Homo sapiens, 675 variants
• BCL2L11 (Bcl-2-like protein 11) variants and mutations - accession O43521, Homo sapiens, 617 variants
• BCL2L2 (Bcl-2-like protein 2) variants and mutations - accession Q92843, Homo sapiens, 553 variants
• BCL6 (B-cell lymphoma 6 protein) variants and mutations - accession P41182, Homo sapiens, 1197 variants
• BCOR (BCL-6 corepressor) variants and mutations - accession Q6W2J9, Homo sapiens, 3236 variants
• BCR (P11274) variants and mutations - accession P11274, Homo sapiens, 2064 variants
• BDNF (P23560) variants and mutations - accession P23560, Homo sapiens, 562 variants
• BEST1 (Bestrophin-1) variants and mutations - accession O76090, Homo sapiens, 1181 variants
• BIN1 (O00499) variants and mutations - accession O00499, Homo sapiens, 836 variants
• BLM (RecQ-like DNA helicase BLM) variants and mutations - accession P54132, Homo sapiens, 3337 variants
• BMPR1A (P36894) variants and mutations - accession P36894, Homo sapiens, 1427 variants
• BMPR2 (Q13873) variants and mutations - accession Q13873, Homo sapiens, 1426 variants
• BRAF (P15056) variants and mutations - accession P15056, Homo sapiens, 1977 variants
• BRCA1 (P38398) variants and mutations - accession P38398, Homo sapiens, 9743 variants
• BRCA2 (P51587) variants and mutations - accession P51587, Homo sapiens, 16922 variants
• BRD2 (Bromodomain-containing protein 2) variants and mutations - accession P25440, Homo sapiens, 1692 variants
• BRD3 (Bromodomain-containing protein 3) variants and mutations - accession Q15059, Homo sapiens, 1132 variants
• BRD4 (Bromodomain-containing protein 4) variants and mutations - accession O60885, Homo sapiens, 2719 variants
• BRIP1 (Fanconi anemia group J protein) variants and mutations - accession Q9BX63, Homo sapiens, 5854 variants
• BTD (Biotinidase) variants and mutations - accession P43251, Homo sapiens, 1033 variants
• BTK (Tyrosine-protein kinase BTK) variants and mutations - accession Q06187, Homo sapiens, 1261 variants
• BUB1B (O60566) variants and mutations - accession O60566, Homo sapiens, 1704 variants
• C2CD2L (O14523) variants and mutations - accession O14523, Homo sapiens, 1050 variants
• C3 (Complement C3) variants and mutations - accession P01024, Homo sapiens, 2032 variants
• C5 (Complement C5) variants and mutations - accession P01031, Homo sapiens, 1883 variants
• C9ORF72 (Q96LT7) variants and mutations - accession Q96LT7, Homo sapiens, 668 variants
• CA2 (Carbonic anhydrase 2) variants and mutations - accession P00918, Homo sapiens, 455 variants
• CACNA1A (O00555) variants and mutations - accession O00555, Homo sapiens, 4079 variants
• CACNA1B (Q00975) variants and mutations - accession Q00975, Homo sapiens, 3259 variants
• CACNA1C (Q13936) variants and mutations - accession Q13936, Homo sapiens, 225 variants
• CACNA1D (Q01668) variants and mutations - accession Q01668, Homo sapiens, 2678 variants
• CACNA1E (Q15878) variants and mutations - accession Q15878, Homo sapiens, 2854 variants
• CACNA1S (Q13698) variants and mutations - accession Q13698, Homo sapiens, 3037 variants
• CACNA2D2 (Q9NY47) variants and mutations - accession Q9NY47, Homo sapiens, 447 variants
• CACNB2 (Q08289) variants and mutations - accession Q08289, Homo sapiens, 1243 variants
• CALCA (P06881) variants and mutations - accession P06881, Homo sapiens, 404 variants
• CALCB (P10092) variants and mutations - accession P10092, Homo sapiens, 358 variants
• CALCRL (Q16602) variants and mutations - accession Q16602, Homo sapiens, 847 variants
• CALM1 (Calmodulin-1) variants and mutations - accession P0DP23, Homo sapiens, 245 variants
• CALM2 (Calmodulin-2) variants and mutations - accession P0DP24, Homo sapiens, 245 variants
• CALM3 (Calmodulin-3) variants and mutations - accession P0DP25, Homo sapiens, 231 variants
• CALR (Calreticulin) variants and mutations - accession P27797, Homo sapiens, 620 variants
• CARD11 (Q9BXL7) variants and mutations - accession Q9BXL7, Homo sapiens, 2253 variants
• CARD9 (Q9H257) variants and mutations - accession Q9H257, Homo sapiens, 953 variants
• CASK (O14936) variants and mutations - accession O14936, Homo sapiens, 954 variants
• CASP3 (Caspase-3) variants and mutations - accession P42574, Homo sapiens, 499 variants
• CASP8 (Caspase-8) variants and mutations - accession Q14790, Homo sapiens, 1585 variants
• CASP9 (Caspase-9) variants and mutations - accession P55211, Homo sapiens, 760 variants
• CASQ2 (Calsequestrin-2) variants and mutations - accession O14958, Homo sapiens, 760 variants
• CASR (P41180) variants and mutations - accession P41180, Homo sapiens, 2483 variants
• CAV3 (Caveolin-3) variants and mutations - accession P56539, Homo sapiens, 445 variants
• CBL (E3 ubiquitin-protein ligase CBL) variants and mutations - accession P22681, Homo sapiens, 2244 variants
• CBS (Cystathionine beta-synthase) variants and mutations - accession P35520, Homo sapiens, 1002 variants
• CCND1 (G1/S-specific cyclin-D1) variants and mutations - accession P24385, Homo sapiens, 1421 variants
• CCND2 (G1/S-specific cyclin-D2) variants and mutations - accession P30279, Homo sapiens, 578 variants
• CCND3 (G1/S-specific cyclin-D3) variants and mutations - accession P30281, Homo sapiens, 772 variants
• CCNE1 (G1/S-specific cyclin-E1) variants and mutations - accession P24864, Homo sapiens, 883 variants
• CCR5 (C-C chemokine receptor type 5) variants and mutations - accession P51681, Homo sapiens, 941 variants
• CD19 (B-lymphocyte antigen CD19) variants and mutations - accession P15391, Homo sapiens, 852 variants
• CD2 (T-cell surface antigen CD2) variants and mutations - accession P06729, Homo sapiens, 685 variants
• CD274 (Programmed cell death 1 ligand 1) variants and mutations - accession Q9NZQ7, Homo sapiens, 1340 variants
• CD276 (CD276 antigen) variants and mutations - accession Q5ZPR3, Homo sapiens, 913 variants
• CD28 (P10747) variants and mutations - accession P10747, Homo sapiens, 481 variants
• CD3D (P04234) variants and mutations - accession P04234, Homo sapiens, 391 variants
• CD3E (P07766) variants and mutations - accession P07766, Homo sapiens, 370 variants
• CD4 (T-cell surface glycoprotein CD4) variants and mutations - accession P01730, Homo sapiens, 712 variants
• CD40 (P25942) variants and mutations - accession P25942, Homo sapiens, 429 variants
• CD40LG (CD40 ligand) variants and mutations - accession P29965, Homo sapiens, 462 variants
• CD7 (T-cell antigen CD7) variants and mutations - accession P09564, Homo sapiens, 637 variants
• CD79A (P11912) variants and mutations - accession P11912, Homo sapiens, 581 variants
• CD79B (P40259) variants and mutations - accession P40259, Homo sapiens, 542 variants
• CD80 (P33681) variants and mutations - accession P33681, Homo sapiens, 623 variants
• CD8A (P01732) variants and mutations - accession P01732, Homo sapiens, 563 variants
• CD8B (P10966) variants and mutations - accession P10966, Homo sapiens, 381 variants
• CDC42 (P60953) variants and mutations - accession P60953, Homo sapiens, 319 variants
• CDC73 (Parafibromin) variants and mutations - accession Q6P1J9, Homo sapiens, 1238 variants
• CDH1 (Cadherin-1) variants and mutations - accession P12830, Homo sapiens, 4399 variants
• CDH2 (Cadherin-2) variants and mutations - accession P19022, Homo sapiens, 1342 variants
• CDK1 (Cyclin-dependent kinase 1) variants and mutations - accession P06493, Homo sapiens, 377 variants
• CDK12 (Cyclin-dependent kinase 12) variants and mutations - accession Q9NYV4, Homo sapiens, 3156 variants
• CDK2 (Cyclin-dependent kinase 2) variants and mutations - accession P24941, Homo sapiens, 407 variants
• CDK4 (Cyclin-dependent kinase 4) variants and mutations - accession P11802, Homo sapiens, 1551 variants
• CDK6 (Cyclin-dependent kinase 6) variants and mutations - accession Q00534, Homo sapiens, 1406 variants
• CDK7 (Cyclin-dependent kinase 7) variants and mutations - accession P50613, Homo sapiens, 452 variants
• CDK9 (Cyclin-dependent kinase 9) variants and mutations - accession P50750, Homo sapiens, 581 variants
• CDKL5 (Cyclin-dependent kinase-like 5) variants and mutations - accession O76039, Homo sapiens, 1181 variants
• CDKN1A (P38936) variants and mutations - accession P38936, Homo sapiens, 768 variants
• CDKN1B (P46527) variants and mutations - accession P46527, Homo sapiens, 924 variants
• CDKN1C (P49918) variants and mutations - accession P49918, Homo sapiens, 450 variants
• CDKN2A (Tumor suppressor ARF) variants and mutations - accession Q8N726, Homo sapiens, 665 variants
• CDX2 (Homeobox protein CDX-2) variants and mutations - accession Q99626, Homo sapiens, 684 variants
• CEBPA (P49715) variants and mutations - accession P49715, Homo sapiens, 1467 variants
• CEBPB (P17676) variants and mutations - accession P17676, Homo sapiens, 932 variants
• CEBPE (Q15744) variants and mutations - accession Q15744, Homo sapiens, 737 variants
• CEP290 (Centrosomal protein of 290 kDa) variants and mutations - accession O15078, Homo sapiens, 3422 variants
• CETP (P11597) variants and mutations - accession P11597, Homo sapiens, 824 variants
• CFH (Complement factor H) variants and mutations - accession P08603, Homo sapiens, 262 variants
• CFTR (P13569) variants and mutations - accession P13569, Homo sapiens, 3261 variants
• CHAMP1 (Q96JM3) variants and mutations - accession Q96JM3, Homo sapiens, 1529 variants
• CHD2 (O14647) variants and mutations - accession O14647, Homo sapiens, 2008 variants
• CHD7 (Q9P2D1) variants and mutations - accession Q9P2D1, Homo sapiens, 4212 variants
• CHD8 (Q9HCK8) variants and mutations - accession Q9HCK8, Homo sapiens, 3741 variants
• CHEK1 (O14757) variants and mutations - accession O14757, Homo sapiens, 854 variants
• CHEK2 (O96017) variants and mutations - accession O96017, Homo sapiens, 2783 variants
• CHM (P24386) variants and mutations - accession P24386, Homo sapiens, 941 variants
• CHRNA4 (P43681) variants and mutations - accession P43681, Homo sapiens, 1393 variants
• CLCN1 (Chloride channel protein 1) variants and mutations - accession P35523, Homo sapiens, 1686 variants
• CLCN5 (P51795) variants and mutations - accession P51795, Homo sapiens, 976 variants
• CLCNKB (Chloride channel protein ClC-Kb) variants and mutations - accession P51801, Homo sapiens, 1096 variants
• CLDN10 (Claudin-10) variants and mutations - accession P78369, Homo sapiens, 509 variants
• CLDN14 (Claudin-14) variants and mutations - accession O95500, Homo sapiens, 634 variants
• CLN3 (Battenin) variants and mutations - accession Q13286, Homo sapiens, 844 variants
• CLU (Clusterin) variants and mutations - accession P10909, Homo sapiens, 737 variants
• CMA1 (Chymase) variants and mutations - accession P23946, Homo sapiens, 663 variants
• CNGA1 (P29973) variants and mutations - accession P29973, Homo sapiens, 1341 variants
• CNTNAP2 (Q9UHC6) variants and mutations - accession Q9UHC6, Homo sapiens, 2416 variants
• COL11A1 (Collagen alpha-1(XI) chain) variants and mutations - accession P12107, Homo sapiens, 2685 variants
• COL17A1 (Collagen alpha-1(XVII) chain) variants and mutations - accession Q9UMD9, Homo sapiens, 2118 variants
• COL1A1 (Collagen alpha-1(I) chain) variants and mutations - accession P02452, Homo sapiens, 2483 variants
• COL1A2 (Collagen alpha-2(I) chain) variants and mutations - accession P08123, Homo sapiens, 2280 variants
• COL2A1 (Collagen alpha-1(II) chain) variants and mutations - accession P02458, Homo sapiens, 2467 variants
• COL3A1 (Collagen alpha-1(III) chain) variants and mutations - accession P02461, Homo sapiens, 2735 variants
• COL4A3 (Collagen alpha-3(IV) chain) variants and mutations - accession Q01955, Homo sapiens, 2407 variants
• COL4A4 (Collagen alpha-4(IV) chain) variants and mutations - accession P53420, Homo sapiens, 2719 variants
• COL4A5 (Collagen alpha-5(IV) chain) variants and mutations - accession P29400, Homo sapiens, 2801 variants
• COL5A1 (Collagen alpha-1(V) chain) variants and mutations - accession P20908, Homo sapiens, 2788 variants
• COL5A2 (Collagen alpha-2(V) chain) variants and mutations - accession P05997, Homo sapiens, 2248 variants
• COL6A1 (Collagen alpha-1(VI) chain) variants and mutations - accession P12109, Homo sapiens, 1705 variants
• COL6A2 (Collagen alpha-2(VI) chain) variants and mutations - accession P12110, Homo sapiens, 2058 variants
• COL6A3 (Collagen alpha-3(VI) chain) variants and mutations - accession P12111, Homo sapiens, 4738 variants
• COL7A1 (Collagen alpha-1(VII) chain) variants and mutations - accession Q02388, Homo sapiens, 4078 variants
• COMP (P49747) variants and mutations - accession P49747, Homo sapiens, 1302 variants
• COMT (Catechol O-methyltransferase) variants and mutations - accession P21964, Homo sapiens, 591 variants
• COQ8A (Q8NI60) variants and mutations - accession Q8NI60, Homo sapiens, 1263 variants
• CPS1 (P31327) variants and mutations - accession P31327, Homo sapiens, 2597 variants
• CPT2 (P23786) variants and mutations - accession P23786, Homo sapiens, 1052 variants
• CR1 (Complement receptor type 1) variants and mutations - accession P17927, Homo sapiens, 66 variants
• CRB1 (Protein crumbs homolog 1) variants and mutations - accession P82279, Homo sapiens, 2551 variants
• CRBN (Protein cereblon) variants and mutations - accession Q96SW2, Homo sapiens, 716 variants
• CREBBP (CREB-binding protein) variants and mutations - accession Q92793, Homo sapiens, 8904 variants
• CRMP1 (Q14194) variants and mutations - accession Q14194, Homo sapiens, 398 variants
• CRX (Cone-rod homeobox protein) variants and mutations - accession O43186, Homo sapiens, 737 variants
• CSF1R (P07333) variants and mutations - accession P07333, Homo sapiens, 2023 variants
• CSF3R (Q99062) variants and mutations - accession Q99062, Homo sapiens, 1611 variants
• CSRP3 (P50461) variants and mutations - accession P50461, Homo sapiens, 548 variants
• CTLA4 (Cytotoxic T-lymphocyte protein 4) variants and mutations - accession P16410, Homo sapiens, 474 variants
• CTNNA1 (Catenin alpha-1) variants and mutations - accession P35221, Homo sapiens, 1761 variants
• CTNNB1 (Catenin beta-1) variants and mutations - accession P35222, Homo sapiens, 3448 variants
• CUL3 (Cullin-3) variants and mutations - accession Q13618, Homo sapiens, 2587 variants
• CUX1 (Homeobox protein cut-like 1) variants and mutations - accession P39880, Homo sapiens, 2015 variants
• CXCR4 (C-X-C chemokine receptor type 4) variants and mutations - accession P61073, Homo sapiens, 968 variants
• CYBB (NADPH oxidase 2) variants and mutations - accession P04839, Homo sapiens, 743 variants
• CYP11B1 (P15538) variants and mutations - accession P15538, Homo sapiens, 1063 variants
• CYP17A1 (P05093) variants and mutations - accession P05093, Homo sapiens, 839 variants
• CYP19A1 (Aromatase) variants and mutations - accession P11511, Homo sapiens, 973 variants
• CYP1A2 (Cytochrome P450 1A2) variants and mutations - accession P05177, Homo sapiens, 1023 variants
• CYP21A2 (Steroid 21-hydroxylase) variants and mutations - accession P08686, Homo sapiens, 1209 variants
• CYP27A1 (Q02318) variants and mutations - accession Q02318, Homo sapiens, 1107 variants
• CYP27B1 (O15528) variants and mutations - accession O15528, Homo sapiens, 617 variants
• CYP2A6 (Cytochrome P450 2A6) variants and mutations - accession P11509, Homo sapiens, 1011 variants
• CYP2B6 (Cytochrome P450 2B6) variants and mutations - accession P20813, Homo sapiens, 930 variants
• CYP2C19 (Cytochrome P450 2C19) variants and mutations - accession P33261, Homo sapiens, 1098 variants
• CYP2C8 (Cytochrome P450 2C8) variants and mutations - accession P10632, Homo sapiens, 917 variants
• CYP2C9 (Cytochrome P450 2C9) variants and mutations - accession P11712, Homo sapiens, 1033 variants
• CYP2D6 (Cytochrome P450 2D6) variants and mutations - accession P10635, Homo sapiens, 1661 variants
• CYP2E1 (Cytochrome P450 2E1) variants and mutations - accession P05181, Homo sapiens, 910 variants
• CYP3A4 (Cytochrome P450 3A4) variants and mutations - accession P08684, Homo sapiens, 753 variants
• CYP3A5 (Cytochrome P450 3A5) variants and mutations - accession P20815, Homo sapiens, 785 variants
• CYP4F2 (Cytochrome P450 4F2) variants and mutations - accession P78329, Homo sapiens, 962 variants
• CYP51A1 (Lanosterol 14-alpha demethylase) variants and mutations - accession Q16850, Homo sapiens, 761 variants
• DAP3 (P51398) variants and mutations - accession P51398, Homo sapiens, 651 variants
• DBH (Dopamine beta-hydroxylase) variants and mutations - accession P09172, Homo sapiens, 1218 variants
• DCC (Netrin receptor DCC) variants and mutations - accession P43146, Homo sapiens, 2230 variants
• DCX (O43602) variants and mutations - accession O43602, Homo sapiens, 668 variants
• DDC (P20711) variants and mutations - accession P20711, Homo sapiens, 903 variants
• DDX3X (ATP-dependent RNA helicase DDX3X) variants and mutations - accession O00571, Homo sapiens, 920 variants
• DDX41 (Q9UJV9) variants and mutations - accession Q9UJV9, Homo sapiens, 841 variants
• DEPDC5 (GATOR1 complex protein DEPDC5) variants and mutations - accession O75140, Homo sapiens, 2181 variants
• DES (Desmin) variants and mutations - accession P17661, Homo sapiens, 1292 variants
• DICER1 (Endoribonuclease Dicer) variants and mutations - accession Q9UPY3, Homo sapiens, 5067 variants
• DIP2B (Q9P265) variants and mutations - accession Q9P265, Homo sapiens, 1644 variants
• DLG4 (Disks large homolog 4) variants and mutations - accession P78352, Homo sapiens, 892 variants
• DMD (Dystrophin) variants and mutations - accession P11532, Homo sapiens, 5876 variants
• DNAH5 (Dynein axonemal heavy chain 5) variants and mutations - accession Q8TE73, Homo sapiens, 6727 variants
• DNAJC6 (Auxilin) variants and mutations - accession O75061, Homo sapiens, 1293 variants
• DNM1 (Dynamin-1) variants and mutations - accession Q05193, Homo sapiens, 1076 variants
• DNMT1 (P26358) variants and mutations - accession P26358, Homo sapiens, 1968 variants
• DNMT3A (Q9Y6K1) variants and mutations - accession Q9Y6K1, Homo sapiens, 2408 variants
• DOCK8 (Q8NF50) variants and mutations - accession Q8NF50, Homo sapiens, 3055 variants
• DPYD (Q12882) variants and mutations - accession Q12882, Homo sapiens, 2295 variants
• DRD2 (D(2) dopamine receptor) variants and mutations - accession P14416, Homo sapiens, 762 variants
• DRD3 (Dopamine receptor D3) variants and mutations - accession P35462, Homo sapiens, 827 variants
• DRD4 (D(4) dopamine receptor) variants and mutations - accession P21917, Homo sapiens, 1211 variants
• DSC2 (Desmocollin-2) variants and mutations - accession Q02487, Homo sapiens, 1707 variants
• DSG1 (Desmoglein-1) variants and mutations - accession Q02413, Homo sapiens, 1651 variants
• DSP (Desmoplakin) variants and mutations - accession P15924, Homo sapiens, 4629 variants
• DTX1 (E3 ubiquitin-protein ligase DTX1) variants and mutations - accession Q86Y01, Homo sapiens, 1095 variants
• DYRK1A (Q13627) variants and mutations - accession Q13627, Homo sapiens, 1224 variants
• DYSF (Dysferlin) variants and mutations - accession O75923, Homo sapiens, 3623 variants
• E2F1 (Transcription factor E2F1) variants and mutations - accession Q01094, Homo sapiens, 731 variants
• EDN1 (Endothelin-1) variants and mutations - accession P05305, Homo sapiens, 459 variants
• EDNRB (Endothelin receptor type B) variants and mutations - accession P24530, Homo sapiens, 857 variants
• EED (Polycomb protein EED) variants and mutations - accession O75530, Homo sapiens, 654 variants
• EGFR (Epidermal growth factor receptor) variants and mutations - accession P00533, Homo sapiens, 5559 variants
• EIF2AK4 (eIF-2-alpha kinase GCN2) variants and mutations - accession Q9P2K8, Homo sapiens, 1801 variants
• ELN (Elastin) variants and mutations - accession P15502, Homo sapiens, 1039 variants
• EP300 (Histone acetyltransferase p300) variants and mutations - accession Q09472, Homo sapiens, 6833 variants
• EPAS1 (Q99814) variants and mutations - accession Q99814, Homo sapiens, 1846 variants
• EPCAM (P16422) variants and mutations - accession P16422, Homo sapiens, 1403 variants
• EPHA3 (Ephrin type-A receptor 3) variants and mutations - accession P29320, Homo sapiens, 2675 variants
• ERBB2 (P04626) variants and mutations - accession P04626, Homo sapiens, 5694 variants
• ERBB3 (P21860) variants and mutations - accession P21860, Homo sapiens, 3272 variants
• ERBB4 (Q15303) variants and mutations - accession Q15303, Homo sapiens, 3860 variants
• ERCC2 (P18074) variants and mutations - accession P18074, Homo sapiens, 1693 variants
• ERCC3 (P19447) variants and mutations - accession P19447, Homo sapiens, 1391 variants
• ERCC4 (DNA repair endonuclease XPF) variants and mutations - accession Q92889, Homo sapiens, 1851 variants
• ERCC5 (P28715) variants and mutations - accession P28715, Homo sapiens, 1891 variants
• ESR1 (Estrogen receptor) variants and mutations - accession P03372, Homo sapiens, 2664 variants
• ETFA (P13804) variants and mutations - accession P13804, Homo sapiens, 453 variants
• ETFB (P38117) variants and mutations - accession P38117, Homo sapiens, 599 variants
• ETFDH (Q16134) variants and mutations - accession Q16134, Homo sapiens, 1051 variants
• ETS1 (Protein C-ets-1) variants and mutations - accession P14921, Homo sapiens, 528 variants
• ETV1 (ETS translocation variant 1) variants and mutations - accession P50549, Homo sapiens, 939 variants
• ETV4 (ETS translocation variant 4) variants and mutations - accession P43268, Homo sapiens, 827 variants
• ETV5 (ETS translocation variant 5) variants and mutations - accession P41161, Homo sapiens, 816 variants
• ETV6 (Transcription factor ETV6) variants and mutations - accession P41212, Homo sapiens, 888 variants
• EYA1 (Protein phosphatase EYA1) variants and mutations - accession Q99502, Homo sapiens, 1097 variants
• EYS (Protein eyes shut homolog) variants and mutations - accession Q5T1H1, Homo sapiens, 1715 variants
• EZH1 (Q92800) variants and mutations - accession Q92800, Homo sapiens, 760 variants
• EZH2 (Q15910) variants and mutations - accession Q15910, Homo sapiens, 850 variants
• F10 (Coagulation factor X) variants and mutations - accession P00742, Homo sapiens, 766 variants
• F11 (Coagulation factor XI) variants and mutations - accession P03951, Homo sapiens, 1187 variants
• F12 (Coagulation factor XII) variants and mutations - accession P00748, Homo sapiens, 1094 variants
• F13A1 (Coagulation factor XIII A chain) variants and mutations - accession P00488, Homo sapiens, 1133 variants
• F13B (Coagulation factor XIII B chain) variants and mutations - accession P05160, Homo sapiens, 1110 variants
• F2 (Prothrombin) variants and mutations - accession P00734, Homo sapiens, 874 variants
• F5 (Coagulation factor V) variants and mutations - accession P12259, Homo sapiens, 2967 variants
• F7 (Coagulation factor VII) variants and mutations - accession P08709, Homo sapiens, 522 variants
• F8 (Coagulation factor VIII) variants and mutations - accession P00451, Homo sapiens, 2859 variants
• F9 (Coagulation factor IX) variants and mutations - accession P00740, Homo sapiens, 905 variants
• FAN1 (Fanconi-associated nuclease 1) variants and mutations - accession Q9Y2M0, Homo sapiens, 1677 variants
• FANCA (Fanconi anemia group A protein) variants and mutations - accession O15360, Homo sapiens, 3556 variants
• FANCC (Fanconi anemia group C protein) variants and mutations - accession Q00597, Homo sapiens, 1516 variants
• FANCD2 (Fanconi anemia group D2 protein) variants and mutations - accession Q9BXW9, Homo sapiens, 2670 variants
• FAS (P25445) variants and mutations - accession P25445, Homo sapiens, 643 variants
• FAT1 (Protocadherin Fat 1) variants and mutations - accession Q14517, Homo sapiens, 19483 variants
• FAT2 (Protocadherin Fat 2) variants and mutations - accession Q9NYQ8, Homo sapiens, 9375 variants
• FBN1 (Fibrillin-1) variants and mutations - accession P35555, Homo sapiens, 5411 variants
• FBN2 (Fibrillin-2) variants and mutations - accession P35556, Homo sapiens, 4797 variants
• FBXW7 (Q969H0) variants and mutations - accession Q969H0, Homo sapiens, 3191 variants
• FERMT1 (Fermitin family homolog 1) variants and mutations - accession Q9BQL6, Homo sapiens, 968 variants
• FGA (Fibrinogen alpha chain) variants and mutations - accession P02671, Homo sapiens, 1569 variants
• FGB (Fibrinogen beta chain) variants and mutations - accession P02675, Homo sapiens, 886 variants
• FGFR1 (P11362) variants and mutations - accession P11362, Homo sapiens, 3739 variants
• FGFR2 (P21802) variants and mutations - accession P21802, Homo sapiens, 3663 variants
• FGFR3 (P22607) variants and mutations - accession P22607, Homo sapiens, 2779 variants
• FGFR4 (P22455) variants and mutations - accession P22455, Homo sapiens, 2024 variants
• FGG (Fibrinogen gamma chain) variants and mutations - accession P02679, Homo sapiens, 790 variants
• FH (P07954) variants and mutations - accession P07954, Homo sapiens, 1513 variants
• FHL1 (Q13642) variants and mutations - accession Q13642, Homo sapiens, 630 variants
• FKRP (Q9H9S5) variants and mutations - accession Q9H9S5, Homo sapiens, 1375 variants
• FLCN (Folliculin) variants and mutations - accession Q8NFG4, Homo sapiens, 1843 variants
• FLG (Filaggrin) variants and mutations - accession P20930, Homo sapiens, 9805 variants
• FLNA (Filamin-A) variants and mutations - accession P21333, Homo sapiens, 2953 variants
• FLNB (Filamin-B) variants and mutations - accession O75369, Homo sapiens, 3569 variants
• FLNC (Filamin-C) variants and mutations - accession Q14315, Homo sapiens, 4379 variants
• FLT3 (P36888) variants and mutations - accession P36888, Homo sapiens, 2018 variants
• FMR1 (Q06787) variants and mutations - accession Q06787, Homo sapiens, 608 variants
• FOS (Protein c-Fos) variants and mutations - accession P01100, Homo sapiens, 660 variants
• FOXA1 (P55317) variants and mutations - accession P55317, Homo sapiens, 1966 variants
• FOXA2 (Hepatocyte nuclear factor 3-beta) variants and mutations - accession Q9Y261, Homo sapiens, 868 variants
• FOXG1 (Forkhead box protein G1) variants and mutations - accession P55316, Homo sapiens, 1212 variants
• FOXI1 (Forkhead box protein I1) variants and mutations - accession Q12951, Homo sapiens, 933 variants
• FOXO1 (Forkhead box protein O1) variants and mutations - accession Q12778, Homo sapiens, 1139 variants
• FOXO3 (Forkhead box protein O3) variants and mutations - accession O43524, Homo sapiens, 1256 variants
• FOXP1 (Forkhead box protein P1) variants and mutations - accession Q9H334, Homo sapiens, 1544 variants
• FOXP2 (Forkhead box protein P2) variants and mutations - accession O15409, Homo sapiens, 1056 variants
• FOXP3 (Forkhead box protein P3) variants and mutations - accession Q9BZS1, Homo sapiens, 610 variants
• FSHR (P23945) variants and mutations - accession P23945, Homo sapiens, 1542 variants
• FTO (Q9C0B1) variants and mutations - accession Q9C0B1, Homo sapiens, 820 variants
• FUS (RNA-binding protein FUS) variants and mutations - accession P35637, Homo sapiens, 759 variants
• G6PC1 (P35575) variants and mutations - accession P35575, Homo sapiens, 660 variants
• G6PC2 (Glucose-6-phosphatase 2) variants and mutations - accession Q9NQR9, Homo sapiens, 770 variants
• G6PD (P11413) variants and mutations - accession P11413, Homo sapiens, 869 variants
• GAA (Lysosomal alpha-glucosidase) variants and mutations - accession P10253, Homo sapiens, 2158 variants
• GABRA1 (P14867) variants and mutations - accession P14867, Homo sapiens, 928 variants
• GABRB3 (P28472) variants and mutations - accession P28472, Homo sapiens, 888 variants
• GABRG2 (P18507) variants and mutations - accession P18507, Homo sapiens, 850 variants
• GALT (P07902) variants and mutations - accession P07902, Homo sapiens, 787 variants
• GATA1 (Erythroid transcription factor) variants and mutations - accession P15976, Homo sapiens, 859 variants
• GATA2 (P23769) variants and mutations - accession P23769, Homo sapiens, 1316 variants
• GATA3 (P23771) variants and mutations - accession P23771, Homo sapiens, 1825 variants
• GATA4 (Transcription factor GATA-4) variants and mutations - accession P43694, Homo sapiens, 1266 variants
• GATA5 (Transcription factor GATA-5) variants and mutations - accession Q9BWX5, Homo sapiens, 795 variants
• GATA6 (Transcription factor GATA-6) variants and mutations - accession Q92908, Homo sapiens, 1385 variants
• GBA1 (P04062) variants and mutations - accession P04062, Homo sapiens, 987 variants
• GCH1 (GTP cyclohydrolase 1) variants and mutations - accession P30793, Homo sapiens, 552 variants
• GCK (Hexokinase-4) variants and mutations - accession P35557, Homo sapiens, 1184 variants
• GFAP (Glial fibrillary acidic protein) variants and mutations - accession P14136, Homo sapiens, 795 variants
• GHR (Growth hormone receptor) variants and mutations - accession P10912, Homo sapiens, 1097 variants
• GJA1 (Gap junction alpha-1 protein) variants and mutations - accession P17302, Homo sapiens, 819 variants
• GJA5 (Gap junction alpha-5 protein) variants and mutations - accession P36382, Homo sapiens, 884 variants
• GJB1 (Gap junction beta-1 protein) variants and mutations - accession P08034, Homo sapiens, 861 variants
• GJB2 (Gap junction beta-2 protein) variants and mutations - accession P29033, Homo sapiens, 681 variants
• GJB6 (Gap junction beta-6 protein) variants and mutations - accession O95452, Homo sapiens, 639 variants
• GLA (Alpha-galactosidase A) variants and mutations - accession P06280, Homo sapiens, 1077 variants
• GLG1 (Golgi apparatus protein 1) variants and mutations - accession Q92896, Homo sapiens, 1610 variants
• GNA11 (P29992) variants and mutations - accession P29992, Homo sapiens, 1168 variants
• GNA13 (Q14344) variants and mutations - accession Q14344, Homo sapiens, 641 variants
• GNAI1 (P63096) variants and mutations - accession P63096, Homo sapiens, 541 variants
• GNAQ (P50148) variants and mutations - accession P50148, Homo sapiens, 872 variants
• GNAS (P63092) variants and mutations - accession P63092, Homo sapiens, 1283 variants
• GNAT1 (P11488) variants and mutations - accession P11488, Homo sapiens, 719 variants
• GRIA1 (Glutamate receptor 1) variants and mutations - accession P42261, Homo sapiens, 1369 variants
• GRIA2 (Glutamate receptor 2) variants and mutations - accession P42262, Homo sapiens, 93 variants
• GRIN1 (Q05586) variants and mutations - accession Q05586, Homo sapiens, 193 variants
• GRIN2A (Q12879) variants and mutations - accession Q12879, Homo sapiens, 5068 variants
• GRIN2B (Glutamate receptor) variants and mutations - accession A0A8D9PHB2, Homo sapiens, 1 variants
• GRIN2D (O15399) variants and mutations - accession O15399, Homo sapiens, 2005 variants
• GRM5 (P41594) variants and mutations - accession P41594, Homo sapiens, 1860 variants
• GRN (Progranulin) variants and mutations - accession P28799, Homo sapiens, 1037 variants
• GUCY2D (Retinal guanylyl cyclase 1) variants and mutations - accession Q02846, Homo sapiens, 2034 variants
• GYS2 (P54840) variants and mutations - accession P54840, Homo sapiens, 1088 variants
• H6PD (O95479) variants and mutations - accession O95479, Homo sapiens, 1425 variants
• HADHB (P55084) variants and mutations - accession P55084, Homo sapiens, 725 variants
• HAVCR2 (Q8TDQ0) variants and mutations - accession Q8TDQ0, Homo sapiens, 596 variants
• HBA1 (Hemoglobin subunit alpha) variants and mutations - accession P69905, Homo sapiens, 639 variants
• HBB (Hemoglobin subunit beta) variants and mutations - accession P68871, Homo sapiens, 775 variants
• HBD (Hemoglobin subunit delta) variants and mutations - accession P02042, Homo sapiens, 475 variants
• HCN1 (O60741) variants and mutations - accession O60741, Homo sapiens, 1814 variants
• HCN4 (Q9Y3Q4) variants and mutations - accession Q9Y3Q4, Homo sapiens, 2147 variants
• HFE (Q30201) variants and mutations - accession Q30201, Homo sapiens, 681 variants
• HIF1A (Hypoxia-inducible factor 1-alpha) variants and mutations - accession Q16665, Homo sapiens, 1105 variants
• HLA-A (P04439) variants and mutations - accession P04439, Homo sapiens, 1288 variants
• HLA-B (P01889) variants and mutations - accession P01889, Homo sapiens, 1203 variants
• HLA-C (P10321) variants and mutations - accession P10321, Homo sapiens, 1161 variants
• HLA-DPA1 (P20036) variants and mutations - accession P20036, Homo sapiens, 550 variants
• HLA-DPB1 (P04440) variants and mutations - accession P04440, Homo sapiens, 585 variants
• HLA-DQB1 (P01920) variants and mutations - accession P01920, Homo sapiens, 133 variants
• HLA-DRA (P01903) variants and mutations - accession P01903, Homo sapiens, 611 variants
• HMBS (Porphobilinogen deaminase) variants and mutations - accession P08397, Homo sapiens, 556 variants
• HMGCR (P04035) variants and mutations - accession P04035, Homo sapiens, 981 variants
• HMGCS2 (P54868) variants and mutations - accession P54868, Homo sapiens, 853 variants
• HNF1B (Hepatocyte nuclear factor 1-beta) variants and mutations - accession P35680, Homo sapiens, 996 variants
• HNF4A (P41235) variants and mutations - accession P41235, Homo sapiens, 794 variants
• HNRNPA1 (P09651) variants and mutations - accession P09651, Homo sapiens, 469 variants
• HNRNPU (Q00839) variants and mutations - accession Q00839, Homo sapiens, 984 variants
• HOGA1 (Q86XE5) variants and mutations - accession Q86XE5, Homo sapiens, 648 variants
• HRAS (GTPase HRas) variants and mutations - accession P01112, Homo sapiens, 949 variants
• HSD17B3 (P37058) variants and mutations - accession P37058, Homo sapiens, 501 variants
• HSD17B4 (Peroxisomal multifunctional enzyme type 2) variants and mutations - accession P51659, Homo sapiens, 1234 variants
• HSD3B2 (P26439) variants and mutations - accession P26439, Homo sapiens, 894 variants
• HSPG2 (P98160) variants and mutations - accession P98160, Homo sapiens, 5741 variants
• HTR2A (5-hydroxytryptamine receptor 2A) variants and mutations - accession P28223, Homo sapiens, 807 variants
• HTR2C (5-hydroxytryptamine receptor 2C) variants and mutations - accession P28335, Homo sapiens, 745 variants
• HTT (Huntingtin) variants and mutations - accession P42858, Homo sapiens, 3276 variants
• IAPP (Islet amyloid polypeptide) variants and mutations - accession P10997, Homo sapiens, 292 variants
• ICOS (Inducible T-cell costimulator) variants and mutations - accession Q9Y6W8, Homo sapiens, 421 variants
• ID3 (Q02535) variants and mutations - accession Q02535, Homo sapiens, 390 variants
• IDH1 (O75874) variants and mutations - accession O75874, Homo sapiens, 1522 variants
• IDH2 (P48735) variants and mutations - accession P48735, Homo sapiens, 1082 variants
• IDS (Iduronate 2-sulfatase) variants and mutations - accession P22304, Homo sapiens, 897 variants
• IDUA (Alpha-L-iduronidase) variants and mutations - accession P35475, Homo sapiens, 1469 variants
• IFNAR1 (Interferon alpha/beta receptor 1) variants and mutations - accession P17181, Homo sapiens, 819 variants
• IFNAR2 (Interferon alpha/beta receptor 2) variants and mutations - accession P48551, Homo sapiens, 720 variants
• IFNG (Interferon gamma) variants and mutations - accession P01579, Homo sapiens, 473 variants
• IFNGR1 (Interferon gamma receptor 1) variants and mutations - accession P15260, Homo sapiens, 1018 variants
• IFNGR2 (Interferon gamma receptor 2) variants and mutations - accession P38484, Homo sapiens, 536 variants
• IFT172 (Q9UG01) variants and mutations - accession Q9UG01, Homo sapiens, 2187 variants
• IKBKB (O14920) variants and mutations - accession O14920, Homo sapiens, 909 variants
• IKZF1 (DNA-binding protein Ikaros) variants and mutations - accession Q13422, Homo sapiens, 1702 variants
• IL10 (Interleukin-10) variants and mutations - accession P22301, Homo sapiens, 353 variants
• IL10RA (Q13651) variants and mutations - accession Q13651, Homo sapiens, 865 variants
• IL12B (Interleukin-12 subunit beta) variants and mutations - accession P29460, Homo sapiens, 613 variants
• IL12RB1 (P42701) variants and mutations - accession P42701, Homo sapiens, 1181 variants
• IL15RA (Q13261) variants and mutations - accession Q13261, Homo sapiens, 557 variants
• IL17F (Interleukin-17F) variants and mutations - accession Q96PD4, Homo sapiens, 412 variants
• IL17RA (Interleukin-17 receptor A) variants and mutations - accession Q96F46, Homo sapiens, 1432 variants
• IL18 (Interleukin-18) variants and mutations - accession Q14116, Homo sapiens, 453 variants
• IL18R1 (Interleukin-18 receptor 1) variants and mutations - accession Q13478, Homo sapiens, 913 variants
• IL1B (Interleukin-1 beta) variants and mutations - accession P01584, Homo sapiens, 546 variants
• IL1R1 (Interleukin-1 receptor type 1) variants and mutations - accession P14778, Homo sapiens, 753 variants
• IL1RAPL1 (Q9NZN1) variants and mutations - accession Q9NZN1, Homo sapiens, 655 variants
• IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2) variants and mutations - accession Q9NP60, Homo sapiens, 785 variants
• IL1RN (P18510) variants and mutations - accession P18510, Homo sapiens, 389 variants
• IL23A (Interleukin-23 subunit alpha) variants and mutations - accession Q9NPF7, Homo sapiens, 478 variants
• IL23R (Interleukin-23 receptor) variants and mutations - accession Q5VWK5, Homo sapiens, 888 variants
• IL2RA (P01589) variants and mutations - accession P01589, Homo sapiens, 506 variants
• IL2RB (P14784) variants and mutations - accession P14784, Homo sapiens, 1084 variants
• IL2RG (P31785) variants and mutations - accession P31785, Homo sapiens, 591 variants
• IL33 (Interleukin-33) variants and mutations - accession O95760, Homo sapiens, 583 variants
• IL4R (P24394) variants and mutations - accession P24394, Homo sapiens, 1304 variants
• IL6 (Interleukin-6) variants and mutations - accession P05231, Homo sapiens, 525 variants
• IL6R (P08887) variants and mutations - accession P08887, Homo sapiens, 759 variants
• IL7R (P16871) variants and mutations - accession P16871, Homo sapiens, 1622 variants
• IMPDH1 (P20839) variants and mutations - accession P20839, Homo sapiens, 12 variants
• INS (Insulin) variants and mutations - accession P01308, Homo sapiens, 344 variants
• INSR (Insulin receptor) variants and mutations - accession P06213, Homo sapiens, 1557 variants
• IRAG1 (Q9Y6F6) variants and mutations - accession Q9Y6F6, Homo sapiens, 678 variants
• IRAK1 (P51617) variants and mutations - accession P51617, Homo sapiens, 840 variants
• IRAK4 (Q9NWZ3) variants and mutations - accession Q9NWZ3, Homo sapiens, 816 variants
• IRF4 (Interferon regulatory factor 4) variants and mutations - accession Q15306, Homo sapiens, 915 variants
• IRF7 (Interferon regulatory factor 7) variants and mutations - accession Q92985, Homo sapiens, 1188 variants
• IRF8 (Interferon regulatory factor 8) variants and mutations - accession Q02556, Homo sapiens, 746 variants
• IRS1 (Insulin receptor substrate 1) variants and mutations - accession P35568, Homo sapiens, 2074 variants
• IRS2 (Insulin receptor substrate 2) variants and mutations - accession Q9Y4H2, Homo sapiens, 3604 variants
• ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial) variants and mutations - accession Q86U28, Homo sapiens, 473 variants
• ITGA2B (Integrin alpha-IIb) variants and mutations - accession P08514, Homo sapiens, 1569 variants
• ITGA6 (Integrin alpha-6) variants and mutations - accession P23229, Homo sapiens, 1517 variants
• ITGB3 (Integrin beta-3) variants and mutations - accession P05106, Homo sapiens, 1138 variants
• ITGB4 (Integrin beta-4) variants and mutations - accession P16144, Homo sapiens, 2379 variants
• ITK (Tyrosine-protein kinase ITK/TSK) variants and mutations - accession Q08881, Homo sapiens, 801 variants
• ITPR2 (Q14571) variants and mutations - accession Q14571, Homo sapiens, 2736 variants
• JAK1 (Tyrosine-protein kinase JAK1) variants and mutations - accession P23458, Homo sapiens, 2282 variants
• JAK2 (Tyrosine-protein kinase JAK2) variants and mutations - accession O60674, Homo sapiens, 2208 variants
• JAK3 (Tyrosine-protein kinase JAK3) variants and mutations - accession P52333, Homo sapiens, 2778 variants
• JMJD4 (Q9H9V9) variants and mutations - accession Q9H9V9, Homo sapiens, 934 variants
• JPH2 (Junctophilin-2) variants and mutations - accession Q9BR39, Homo sapiens, 1526 variants
• JUN (Transcription factor Jun) variants and mutations - accession P05412, Homo sapiens, 1148 variants
• JUP (Junction plakoglobin) variants and mutations - accession P14923, Homo sapiens, 1314 variants
• KCNA1 (Q09470) variants and mutations - accession Q09470, Homo sapiens, 1165 variants
• KCNA2 (P16389) variants and mutations - accession P16389, Homo sapiens, 1013 variants
• KCNB1 (Q14721) variants and mutations - accession Q14721, Homo sapiens, 1560 variants
• KCNE1 (P15382) variants and mutations - accession P15382, Homo sapiens, 459 variants
• KCNE2 (Q9Y6J6) variants and mutations - accession Q9Y6J6, Homo sapiens, 302 variants
• KCNH2 (hERG) variants and mutations - accession Q12809, Homo sapiens, 2334 variants
• KCNJ10 (P78508) variants and mutations - accession P78508, Homo sapiens, 870 variants
• KCNJ11 (Q14654) variants and mutations - accession Q14654, Homo sapiens, 897 variants
• KCNJ2 (P63252) variants and mutations - accession P63252, Homo sapiens, 969 variants
• KCNJ3 (P48549) variants and mutations - accession P48549, Homo sapiens, 890 variants
• KCNJ5 (P48544) variants and mutations - accession P48544, Homo sapiens, 992 variants
• KCNMA1 (Q12791) variants and mutations - accession Q12791, Homo sapiens, 1392 variants
• KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) variants and mutations - accession P51787, Homo sapiens, 1718 variants
• KCNQ2 (O43526) variants and mutations - accession O43526, Homo sapiens, 1802 variants
• KCNQ3 (O43525) variants and mutations - accession O43525, Homo sapiens, 1456 variants
• KCNQ4 (P56696) variants and mutations - accession P56696, Homo sapiens, 1332 variants
• KCNQ5 (Q9NR82) variants and mutations - accession Q9NR82, Homo sapiens, 1571 variants
• KCNT1 (Q5JUK3) variants and mutations - accession Q5JUK3, Homo sapiens, 1847 variants
• KDM6A (Lysine-specific demethylase 6A) variants and mutations - accession O15550, Homo sapiens, 4172 variants
• KDM6B (Lysine-specific demethylase 6B) variants and mutations - accession O15054, Homo sapiens, 2502 variants
• KEAP1 (Q14145) variants and mutations - accession Q14145, Homo sapiens, 3139 variants
• KIF11 (Kinesin-like protein KIF11) variants and mutations - accession P52732, Homo sapiens, 1090 variants
• KIF1A (Kinesin-like protein KIF1A) variants and mutations - accession Q12756, Homo sapiens, 560 variants
• KIF5A (Kinesin heavy chain isoform 5A) variants and mutations - accession Q12840, Homo sapiens, 1237 variants
• KIT (P10721) variants and mutations - accession P10721, Homo sapiens, 3520 variants
• KLF4 (Krueppel-like factor 4) variants and mutations - accession O43474, Homo sapiens, 7 variants
• KMT2A (Q03164) variants and mutations - accession Q03164, Homo sapiens, 7780 variants
• KMT2C (Q8NEZ4) variants and mutations - accession Q8NEZ4, Homo sapiens, 15046 variants
• KMT2D (O14686) variants and mutations - accession O14686, Homo sapiens, 21573 variants
• KMT2E (Histone reader KMT2E) variants and mutations - accession Q8IZD2, Homo sapiens, 1961 variants
• KRAS (GTPase KRas) variants and mutations - accession P01116, Homo sapiens, 825 variants
• KRIT1 (O00522) variants and mutations - accession O00522, Homo sapiens, 1128 variants
• KRT1 (Keratin, type II cytoskeletal 1) variants and mutations - accession P04264, Homo sapiens, 1162 variants
• KRT10 (Keratin, type I cytoskeletal 10) variants and mutations - accession P13645, Homo sapiens, 926 variants
• KRT12 (Keratin, type I cytoskeletal 12) variants and mutations - accession Q99456, Homo sapiens, 859 variants
• KRT13 (Keratin, type I cytoskeletal 13) variants and mutations - accession P13646, Homo sapiens, 838 variants
• KRT14 (Keratin, type I cytoskeletal 14) variants and mutations - accession P02533, Homo sapiens, 937 variants
• KRT16 (Keratin, type I cytoskeletal 16) variants and mutations - accession P08779, Homo sapiens, 910 variants
• KRT17 (Keratin, type I cytoskeletal 17) variants and mutations - accession Q04695, Homo sapiens, 839 variants
• KRT18 (Keratin, type I cytoskeletal 18) variants and mutations - accession P05783, Homo sapiens, 863 variants
• KRT2 (P35908) variants and mutations - accession P35908, Homo sapiens, 1139 variants
• KRT3 (Keratin, type II cytoskeletal 3) variants and mutations - accession P12035, Homo sapiens, 1094 variants
• KRT4 (Keratin, type II cytoskeletal 4) variants and mutations - accession P19013, Homo sapiens, 968 variants
• KRT5 (Keratin, type II cytoskeletal 5) variants and mutations - accession P13647, Homo sapiens, 1140 variants
• KRT6A (Keratin, type II cytoskeletal 6A) variants and mutations - accession P02538, Homo sapiens, 1065 variants
• KRT6B (Keratin, type II cytoskeletal 6B) variants and mutations - accession P04259, Homo sapiens, 1119 variants
• KRT8 (Keratin, type II cytoskeletal 8) variants and mutations - accession P05787, Homo sapiens, 860 variants
• KRT9 (Keratin, type I cytoskeletal 9) variants and mutations - accession P35527, Homo sapiens, 1176 variants
• L1CAM (Neural cell adhesion molecule L1) variants and mutations - accession P32004, Homo sapiens, 1359 variants
• LAG3 (P18627) variants and mutations - accession P18627, Homo sapiens, 925 variants
• LAMA2 (Laminin subunit alpha-2) variants and mutations - accession P24043, Homo sapiens, 4740 variants
• LAMA3 (Laminin subunit alpha-3) variants and mutations - accession Q16787, Homo sapiens, 4223 variants
• LAMB3 (Laminin subunit beta-3) variants and mutations - accession Q13751, Homo sapiens, 2045 variants
• LAMC2 (Laminin subunit gamma-2) variants and mutations - accession Q13753, Homo sapiens, 1627 variants
• LAMP2 (P13473) variants and mutations - accession P13473, Homo sapiens, 670 variants
• LBR (Delta(14)-sterol reductase LBR) variants and mutations - accession Q14739, Homo sapiens, 1020 variants
• LCAT (P04180) variants and mutations - accession P04180, Homo sapiens, 667 variants
• LCK (Tyrosine-protein kinase Lck) variants and mutations - accession P06239, Homo sapiens, 701 variants
• LDB3 (LIM domain-binding protein 3) variants and mutations - accession O75112, Homo sapiens, 1449 variants
• LDLR (Low-density lipoprotein receptor) variants and mutations - accession P01130, Homo sapiens, 2294 variants
• LEP (Leptin) variants and mutations - accession P41159, Homo sapiens, 356 variants
• LEPR (Leptin receptor) variants and mutations - accession P48357, Homo sapiens, 1511 variants
• LHCGR (P22888) variants and mutations - accession P22888, Homo sapiens, 1366 variants
• LIPC (Hepatic triacylglycerol lipase) variants and mutations - accession P11150, Homo sapiens, 979 variants
• LMNA (Prelamin-A/C) variants and mutations - accession P02545, Homo sapiens, 1553 variants
• LOX (Protein-lysine 6-oxidase) variants and mutations - accession P28300, Homo sapiens, 781 variants
• LPA (Apolipoprotein(a)) variants and mutations - accession P08519, Homo sapiens, 2741 variants
• LPL (Lipoprotein lipase) variants and mutations - accession P06858, Homo sapiens, 793 variants
• LRBA (P50851) variants and mutations - accession P50851, Homo sapiens, 3609 variants
• LRP2 (P98164) variants and mutations - accession P98164, Homo sapiens, 5813 variants
• LRP4 (O75096) variants and mutations - accession O75096, Homo sapiens, 2287 variants
• LRP5 (O75197) variants and mutations - accession O75197, Homo sapiens, 2355 variants
• LRRK2 (Q5S007) variants and mutations - accession Q5S007, Homo sapiens, 4051 variants
• LYST (Lysosomal-trafficking regulator) variants and mutations - accession Q99698, Homo sapiens, 4472 variants
• MAGED2 (Melanoma-associated antigen D2) variants and mutations - accession Q9UNF1, Homo sapiens, 861 variants
• MALT1 (Q9UDY8) variants and mutations - accession Q9UDY8, Homo sapiens, 1074 variants
• MAOA (P21397) variants and mutations - accession P21397, Homo sapiens, 534 variants
• MAOB (P27338) variants and mutations - accession P27338, Homo sapiens, 555 variants
• MAP2K1 (Q02750) variants and mutations - accession Q02750, Homo sapiens, 1428 variants
• MAP2K2 (P36507) variants and mutations - accession P36507, Homo sapiens, 1648 variants
• MAPK1 (P28482) variants and mutations - accession P28482, Homo sapiens, 624 variants
• MAPK3 (P27361) variants and mutations - accession P27361, Homo sapiens, 729 variants
• MAPT (P10636) variants and mutations - accession P10636, Homo sapiens, 1101 variants
• MAX (Protein max) variants and mutations - accession P61244, Homo sapiens, 671 variants
• MBP (Myelin basic protein) variants and mutations - accession P02686, Homo sapiens, 689 variants
• MC4R (Melanocortin receptor 4) variants and mutations - accession P32245, Homo sapiens, 850 variants
• MCCC1 (Q96RQ3) variants and mutations - accession Q96RQ3, Homo sapiens, 1096 variants
• MCCC2 (Q9HCC0) variants and mutations - accession Q9HCC0, Homo sapiens, 940 variants
• MCL1 (Q07820) variants and mutations - accession Q07820, Homo sapiens, 1129 variants
• MCM2 (P49736) variants and mutations - accession P49736, Homo sapiens, 1263 variants
• MCM3 (P25205) variants and mutations - accession P25205, Homo sapiens, 1199 variants
• MCM5 (P33992) variants and mutations - accession P33992, Homo sapiens, 1055 variants
• MCM6 (Q14566) variants and mutations - accession Q14566, Homo sapiens, 1084 variants
• MDM2 (E3 ubiquitin-protein ligase Mdm2) variants and mutations - accession Q00987, Homo sapiens, 382 variants
• MDM4 (Protein Mdm4) variants and mutations - accession O15151, Homo sapiens, 1013 variants
• MECOM (Q03112) variants and mutations - accession Q03112, Homo sapiens, 1885 variants
• MECP2 (Methyl-CpG-binding protein 2) variants and mutations - accession P51608, Homo sapiens, 1324 variants
• MED13L (Q71F56) variants and mutations - accession Q71F56, Homo sapiens, 2226 variants
• MEF2C (Q06413) variants and mutations - accession Q06413, Homo sapiens, 864 variants
• MEFV (Pyrin) variants and mutations - accession O15553, Homo sapiens, 1702 variants
• MEN1 (Menin) variants and mutations - accession O00255, Homo sapiens, 2434 variants
• MERTK (Tyrosine-protein kinase Mer) variants and mutations - accession Q12866, Homo sapiens, 1417 variants
• MET (P08581) variants and mutations - accession P08581, Homo sapiens, 6533 variants
• MFN2 (Mitofusin-2) variants and mutations - accession O95140, Homo sapiens, 1317 variants
• MITF (O75030) variants and mutations - accession O75030, Homo sapiens, 1314 variants
• MLC1 (Membrane protein MLC1) variants and mutations - accession Q15049, Homo sapiens, 721 variants
• MLH1 (DNA mismatch repair protein Mlh1) variants and mutations - accession P40692, Homo sapiens, 3606 variants
• MLH3 (DNA mismatch repair protein Mlh3) variants and mutations - accession Q9UHC1, Homo sapiens, 3148 variants
• MMAA (Q8IVH4) variants and mutations - accession Q8IVH4, Homo sapiens, 799 variants
• MMAB (Q96EY8) variants and mutations - accession Q96EY8, Homo sapiens, 440 variants
• MMACHC (Q9Y4U1) variants and mutations - accession Q9Y4U1, Homo sapiens, 726 variants
• MMADHC (Q9H3L0) variants and mutations - accession Q9H3L0, Homo sapiens, 595 variants
• MMUT (P22033) variants and mutations - accession P22033, Homo sapiens, 1295 variants
• MOG (Q16653) variants and mutations - accession Q16653, Homo sapiens, 535 variants
• MPL (Thrombopoietin receptor) variants and mutations - accession P40238, Homo sapiens, 1464 variants
• MRE11 (P49959) variants and mutations - accession P49959, Homo sapiens, 1657 variants
• MS4A1 (B-lymphocyte antigen CD20) variants and mutations - accession P11836, Homo sapiens, 703 variants
• MSH2 (DNA mismatch repair protein Msh2) variants and mutations - accession P43246, Homo sapiens, 4452 variants
• MSH3 (DNA mismatch repair protein Msh3) variants and mutations - accession P20585, Homo sapiens, 3034 variants
• MSH6 (DNA mismatch repair protein Msh6) variants and mutations - accession P52701, Homo sapiens, 7388 variants
• MSI1 (O43347) variants and mutations - accession O43347, Homo sapiens, 633 variants
• MTHFR (P42898) variants and mutations - accession P42898, Homo sapiens, 1345 variants
• MTOR (P42345) variants and mutations - accession P42345, Homo sapiens, 5679 variants
• MUC1 (Mucin-1) variants and mutations - accession P15941, Homo sapiens, 16 variants
• MUSK (O15146) variants and mutations - accession O15146, Homo sapiens, 1398 variants
• MUTYH (Adenine DNA glycosylase) variants and mutations - accession Q9UIF7, Homo sapiens, 1896 variants
• MYBPC3 (Myosin-binding protein C, cardiac-type) variants and mutations - accession Q14896, Homo sapiens, 2593 variants
• MYC (Myc proto-oncogene protein) variants and mutations - accession P01106, Homo sapiens, 1872 variants
• MYCN (N-myc proto-oncogene protein) variants and mutations - accession P04198, Homo sapiens, 1371 variants
• MYD88 (Q99836) variants and mutations - accession Q99836, Homo sapiens, 1230 variants
• MYH11 (Myosin-11) variants and mutations - accession P35749, Homo sapiens, 3160 variants
• MYH6 (Myosin-6) variants and mutations - accession P13533, Homo sapiens, 2707 variants
• MYH7 (Myosin-7) variants and mutations - accession P12883, Homo sapiens, 3534 variants
• MYL2 (P10916) variants and mutations - accession P10916, Homo sapiens, 451 variants
• MYL3 (Myosin light chain 3) variants and mutations - accession P08590, Homo sapiens, 502 variants
• MYLK (Q15746) variants and mutations - accession Q15746, Homo sapiens, 2639 variants
• MYO15A (Unconventional myosin-XV) variants and mutations - accession Q9UKN7, Homo sapiens, 5475 variants
• MYO6 (Unconventional myosin-VI) variants and mutations - accession Q9UM54, Homo sapiens, 3 variants
• MYO7A (Unconventional myosin-VIIa) variants and mutations - accession Q13402, Homo sapiens, 3392 variants
• MYPN (Myopalladin) variants and mutations - accession Q86TC9, Homo sapiens, 2299 variants
• NAT1 (Arylamine N-acetyltransferase 1) variants and mutations - accession P18440, Homo sapiens, 717 variants
• NAT2 (Arylamine N-acetyltransferase 2) variants and mutations - accession P11245, Homo sapiens, 800 variants
• NBN (Nibrin) variants and mutations - accession O60934, Homo sapiens, 2307 variants
• NCF1 (Neutrophil cytosol factor 1) variants and mutations - accession P14598, Homo sapiens, 611 variants
• NCF2 (Neutrophil cytosol factor 2) variants and mutations - accession P19878, Homo sapiens, 898 variants
• NCF4 (Neutrophil cytosol factor 4) variants and mutations - accession Q15080, Homo sapiens, 655 variants
• NCSTN (Nicastrin) variants and mutations - accession Q92542, Homo sapiens, 905 variants
• NEB (Nebulin) variants and mutations - accession P20929, Homo sapiens, 11016 variants
• NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) variants and mutations - accession Q96PU5, Homo sapiens, 1077 variants
• NF1 (Neurofibromin) variants and mutations - accession P21359, Homo sapiens, 13101 variants
• NF2 (Merlin) variants and mutations - accession P35240, Homo sapiens, 1898 variants
• NFE2L2 (Q16236) variants and mutations - accession Q16236, Homo sapiens, 1568 variants
• NFKB1 (P19838) variants and mutations - accession P19838, Homo sapiens, 610 variants
• NFKB2 (Q00653) variants and mutations - accession Q00653, Homo sapiens, 1020 variants
• NFKBIA (NF-kappa-B inhibitor alpha) variants and mutations - accession P25963, Homo sapiens, 815 variants
• NIPBL (Nipped-B-like protein) variants and mutations - accession Q6KC79, Homo sapiens, 2510 variants
• NKX2-1 (Homeobox protein Nkx-2.1) variants and mutations - accession P43699, Homo sapiens, 1196 variants
• NKX2-5 (Homeobox protein Nkx-2.5) variants and mutations - accession P52952, Homo sapiens, 920 variants
• NLGN3 (Neuroligin-3) variants and mutations - accession Q9NZ94, Homo sapiens, 749 variants
• NLGN4X (Neuroligin-4, X-linked) variants and mutations - accession Q8N0W4, Homo sapiens, 1513 variants
• NLRP1 (Q9C000) variants and mutations - accession Q9C000, Homo sapiens, 2168 variants
• NLRP3 (Q96P20) variants and mutations - accession Q96P20, Homo sapiens, 202 variants
• NOD1 (Q9Y239) variants and mutations - accession Q9Y239, Homo sapiens, 1315 variants
• NOD2 (Q9HC29) variants and mutations - accession Q9HC29, Homo sapiens, 749 variants
• NOS1AP (O75052) variants and mutations - accession O75052, Homo sapiens, 666 variants
• NOS3 (Nitric oxide synthase 3) variants and mutations - accession P29474, Homo sapiens, 1667 variants
• NOTCH1 (P46531) variants and mutations - accession P46531, Homo sapiens, 10057 variants
• NOTCH2 (Q04721) variants and mutations - accession Q04721, Homo sapiens, 5267 variants
• NOTCH3 (Q9UM47) variants and mutations - accession Q9UM47, Homo sapiens, 5573 variants
• NPC1 (O15118) variants and mutations - accession O15118, Homo sapiens, 1771 variants
• NPC2 (P61916) variants and mutations - accession P61916, Homo sapiens, 317 variants
• NPHS1 (Nephrin) variants and mutations - accession O60500, Homo sapiens, 1958 variants
• NPHS2 (Podocin) variants and mutations - accession Q9NP85, Homo sapiens, 763 variants
• NPM1 (Nucleophosmin) variants and mutations - accession P06748, Homo sapiens, 526 variants
• NPPA (Natriuretic peptides A) variants and mutations - accession P01160, Homo sapiens, 402 variants
• NPPB (Natriuretic peptides B) variants and mutations - accession P16860, Homo sapiens, 351 variants
• NPR1 (P16066) variants and mutations - accession P16066, Homo sapiens, 1658 variants
• NR2E3 (Q9Y5X4) variants and mutations - accession Q9Y5X4, Homo sapiens, 865 variants
• NR3C1 (Glucocorticoid receptor) variants and mutations - accession P04150, Homo sapiens, 1075 variants
• NRAS (GTPase NRas) variants and mutations - accession P01111, Homo sapiens, 800 variants
• NRXN1 (Neurexin-1) variants and mutations - accession Q9ULB1, Homo sapiens, 3001 variants
• NRXN2 (Neurexin-2) variants and mutations - accession Q9P2S2, Homo sapiens, 2372 variants
• NSD1 (Q96L73) variants and mutations - accession Q96L73, Homo sapiens, 4996 variants
• NTHL1 (Endonuclease III-like protein 1) variants and mutations - accession P78549, Homo sapiens, 1074 variants
• NTRK1 (P04629) variants and mutations - accession P04629, Homo sapiens, 3221 variants
• NTRK2 (Q16620) variants and mutations - accession Q16620, Homo sapiens, 2449 variants
• NTRK3 (NT-3 growth factor receptor) variants and mutations - accession Q16288, Homo sapiens, 2992 variants
• NUDT15 (Q9NV35) variants and mutations - accession Q9NV35, Homo sapiens, 488 variants
• OCA2 (P protein) variants and mutations - accession Q04671, Homo sapiens, 1293 variants
• OCRL (Q01968) variants and mutations - accession Q01968, Homo sapiens, 885 variants
• OPA1 (O60313) variants and mutations - accession O60313, Homo sapiens, 1395 variants
• OPRM1 (Mu-type opioid receptor) variants and mutations - accession P35372, Homo sapiens, 924 variants
• OPTN (Optineurin) variants and mutations - accession Q96CV9, Homo sapiens, 935 variants
• ORC1 (Q13415) variants and mutations - accession Q13415, Homo sapiens, 1350 variants
• OTC (P00480) variants and mutations - accession P00480, Homo sapiens, 828 variants
• OTOF (Otoferlin) variants and mutations - accession Q9HC10, Homo sapiens, 2968 variants
• PADI4 (Q9UM07) variants and mutations - accession Q9UM07, Homo sapiens, 1083 variants
• PAH (Phenylalanine-4-hydroxylase) variants and mutations - accession P00439, Homo sapiens, 1132 variants
• PALB2 (Partner and localizer of BRCA2) variants and mutations - accession Q86YC2, Homo sapiens, 5727 variants
• PANK1 (Pantothenate kinase 1) variants and mutations - accession Q8TE04, Homo sapiens, 1 variants
• PANK2 (Q9BZ23) variants and mutations - accession Q9BZ23, Homo sapiens, 611 variants
• PARK7 (Parkinson disease protein 7) variants and mutations - accession Q99497, Homo sapiens, 392 variants
• PARP1 (Poly [ADP-ribose] polymerase 1) variants and mutations - accession P09874, Homo sapiens, 1804 variants
• PARP2 (Poly [ADP-ribose] polymerase 2) variants and mutations - accession Q9UGN5, Homo sapiens, 352 variants
• PAX5 (Paired box protein Pax-5) variants and mutations - accession Q02548, Homo sapiens, 1087 variants
• PAX6 (Paired box protein Pax-6) variants and mutations - accession P26367, Homo sapiens, 938 variants
• PAX8 (Paired box protein Pax-8) variants and mutations - accession Q06710, Homo sapiens, 876 variants
• PBRM1 (Protein polybromo-1) variants and mutations - accession Q86U86, Homo sapiens, 1716 variants
• PCCA (P05165) variants and mutations - accession P05165, Homo sapiens, 1134 variants
• PCCB (P05166) variants and mutations - accession P05166, Homo sapiens, 1094 variants
• PCDH15 (Protocadherin-15) variants and mutations - accession Q96QU1, Homo sapiens, 4468 variants
• PCDH19 (Protocadherin-19) variants and mutations - accession Q8TAB3, Homo sapiens, 1713 variants
• PCSK1 (Neuroendocrine convertase 1) variants and mutations - accession P29120, Homo sapiens, 1097 variants
• PCSK9 (Proprotein convertase subtilisin/kexin type 9) variants and mutations - accession Q8NBP7, Homo sapiens, 1359 variants
• PDCD1 (Programmed cell death protein 1) variants and mutations - accession Q15116, Homo sapiens, 903 variants
• PDCD1LG2 (Programmed cell death 1 ligand 2) variants and mutations - accession Q9BQ51, Homo sapiens, 1349 variants
• PDE6B (P35913) variants and mutations - accession P35913, Homo sapiens, 1603 variants
• PDGFRA (P16234) variants and mutations - accession P16234, Homo sapiens, 3878 variants
• PDGFRB (P09619) variants and mutations - accession P09619, Homo sapiens, 2184 variants
• PDX1 (P52945) variants and mutations - accession P52945, Homo sapiens, 792 variants
• PGR (Progesterone receptor) variants and mutations - accession P06401, Homo sapiens, 1427 variants
• PHF6 (PHD finger protein 6) variants and mutations - accession Q8IWS0, Homo sapiens, 632 variants
• PICALM (Q13492) variants and mutations - accession Q13492, Homo sapiens, 756 variants
• PIEZO1 (Piezo-type mechanosensitive ion channel component 1) variants and mutations - accession Q92508, Homo sapiens, 4518 variants
• PIEZO2 (Q9H5I5) variants and mutations - accession Q9H5I5, Homo sapiens, 2879 variants
• PIK3CA (P42336) variants and mutations - accession P42336, Homo sapiens, 4169 variants
• PIK3CB (P42338) variants and mutations - accession P42338, Homo sapiens, 1885 variants
• PIK3CD (O00329) variants and mutations - accession O00329, Homo sapiens, 1087 variants
• PIK3CG (P48736) variants and mutations - accession P48736, Homo sapiens, 5439 variants
• PIK3R1 (P27986) variants and mutations - accession P27986, Homo sapiens, 1967 variants
• PIK3R2 (O00459) variants and mutations - accession O00459, Homo sapiens, 2087 variants
• PIM1 (P11309) variants and mutations - accession P11309, Homo sapiens, 592 variants
• PINK1 (Q9BXM7) variants and mutations - accession Q9BXM7, Homo sapiens, 1224 variants
• PKD1 (Polycystin-1) variants and mutations - accession P98161, Homo sapiens, 7773 variants
• PKD2 (Polycystin-2) variants and mutations - accession Q13563, Homo sapiens, 1679 variants
• PKLR (Pyruvate kinase PKLR) variants and mutations - accession P30613, Homo sapiens, 1019 variants
• PKP1 (Plakophilin-1) variants and mutations - accession Q13835, Homo sapiens, 1386 variants
• PKP2 (Plakophilin-2) variants and mutations - accession Q99959, Homo sapiens, 762 variants
• PLAT (P00750) variants and mutations - accession P00750, Homo sapiens, 966 variants
• PLAU (P00749) variants and mutations - accession P00749, Homo sapiens, 642 variants
• PLCG2 (P16885) variants and mutations - accession P16885, Homo sapiens, 1789 variants
• PLK1 (P53350) variants and mutations - accession P53350, Homo sapiens, 776 variants
• PLN (Phospholamban) variants and mutations - accession P26678, Homo sapiens, 137 variants
• PLP1 (Myelin proteolipid protein) variants and mutations - accession P60201, Homo sapiens, 564 variants
• PML (Protein PML) variants and mutations - accession P29590, Homo sapiens, 1384 variants
• PMP22 (Peripheral myelin protein 22) variants and mutations - accession Q01453, Homo sapiens, 423 variants
• PMS1 (PMS1 protein homolog 1) variants and mutations - accession P54277, Homo sapiens, 1649 variants
• PMS2 (P54278) variants and mutations - accession P54278, Homo sapiens, 4022 variants
• POGZ (Q7Z3K3) variants and mutations - accession Q7Z3K3, Homo sapiens, 1692 variants
• POLD1 (P28340) variants and mutations - accession P28340, Homo sapiens, 3864 variants
• POLE (Q07864) variants and mutations - accession Q07864, Homo sapiens, 8115 variants
• POLG (DNA polymerase subunit gamma-1) variants and mutations - accession P54098, Homo sapiens, 2426 variants
• POLH (DNA polymerase eta) variants and mutations - accession Q9Y253, Homo sapiens, 937 variants
• POLR1D (P0DPB6) variants and mutations - accession P0DPB6, Homo sapiens, 346 variants
• PON1 (Serum paraoxonase/arylesterase 1) variants and mutations - accession P27169, Homo sapiens, 644 variants
• POR (NADPH--cytochrome P450 reductase) variants and mutations - accession P16435, Homo sapiens, 1007 variants
• POT1 (Q9NUX5) variants and mutations - accession Q9NUX5, Homo sapiens, 1567 variants
• PPARG (P37231) variants and mutations - accession P37231, Homo sapiens, 403 variants
• PPARGC1A (Q9UBK2) variants and mutations - accession Q9UBK2, Homo sapiens, 1146 variants
• PPM1D (Protein phosphatase 1D) variants and mutations - accession O15297, Homo sapiens, 1302 variants
• PPP2R5D (Q14738) variants and mutations - accession Q14738, Homo sapiens, 709 variants
• PRKAA1 (Q13131) variants and mutations - accession Q13131, Homo sapiens, 901 variants
• PRKAA2 (P54646) variants and mutations - accession P54646, Homo sapiens, 834 variants
• PRKAR1A (P10644) variants and mutations - accession P10644, Homo sapiens, 875 variants
• PRKCA (Protein kinase C alpha type) variants and mutations - accession P17252, Homo sapiens, 672 variants
• PRKCB (Protein kinase C beta type) variants and mutations - accession P05771, Homo sapiens, 1025 variants
• PRKCH (Protein kinase C eta type) variants and mutations - accession P24723, Homo sapiens, 861 variants
• PRKG1 (cGMP-dependent protein kinase 1) variants and mutations - accession Q13976, Homo sapiens, 1048 variants
• PRKN (O60260) variants and mutations - accession O60260, Homo sapiens, 1032 variants
• PRMT5 (O14744) variants and mutations - accession O14744, Homo sapiens, 694 variants
• PRNP (Major prion protein) variants and mutations - accession P04156, Homo sapiens, 617 variants
• PROC (Vitamin K-dependent protein C) variants and mutations - accession P04070, Homo sapiens, 880 variants
• PROS1 (Vitamin K-dependent protein S) variants and mutations - accession P07225, Homo sapiens, 1168 variants
• PRPH2 (Peripherin-2) variants and mutations - accession P23942, Homo sapiens, 910 variants
• PRRT2 (Q7Z6L0) variants and mutations - accession Q7Z6L0, Homo sapiens, 980 variants
• PSEN1 (Presenilin-1) variants and mutations - accession P49768, Homo sapiens, 848 variants
• PSEN2 (Presenilin-2) variants and mutations - accession P49810, Homo sapiens, 765 variants
• PSTPIP1 (O43586) variants and mutations - accession O43586, Homo sapiens, 790 variants
• PTCH1 (Protein patched homolog 1) variants and mutations - accession Q13635, Homo sapiens, 5949 variants
• PTEN (P60484) variants and mutations - accession P60484, Homo sapiens, 2151 variants
• PTH (Parathyroid hormone) variants and mutations - accession P01270, Homo sapiens, 282 variants
• PTH1R (Q03431) variants and mutations - accession Q03431, Homo sapiens, 964 variants
• PTPN11 (Q06124) variants and mutations - accession Q06124, Homo sapiens, 1792 variants
• PTPN2 (P17706) variants and mutations - accession P17706, Homo sapiens, 651 variants
• PTPN22 (Q9Y2R2) variants and mutations - accession Q9Y2R2, Homo sapiens, 9 variants
• PTPN4 (P29074) variants and mutations - accession P29074, Homo sapiens, 955 variants
• PTPRC (P08575) variants and mutations - accession P08575, Homo sapiens, 1829 variants
• PURA (Q00577) variants and mutations - accession Q00577, Homo sapiens, 792 variants
• PYGM (P11217) variants and mutations - accession P11217, Homo sapiens, 1381 variants
• RAC1 (P63000) variants and mutations - accession P63000, Homo sapiens, 508 variants
• RAD21 (O60216) variants and mutations - accession O60216, Homo sapiens, 975 variants
• RAD50 (DNA repair protein RAD50) variants and mutations - accession Q92878, Homo sapiens, 3347 variants
• RAD51 (Q06609) variants and mutations - accession Q06609, Homo sapiens, 638 variants
• RAD51C (O43502) variants and mutations - accession O43502, Homo sapiens, 1846 variants
• RAD51D (O75771) variants and mutations - accession O75771, Homo sapiens, 1708 variants
• RAF1 (P04049) variants and mutations - accession P04049, Homo sapiens, 2086 variants
• RAG1 (P15918) variants and mutations - accession P15918, Homo sapiens, 1794 variants
• RAG2 (P55895) variants and mutations - accession P55895, Homo sapiens, 1330 variants
• RAI1 (Retinoic acid-induced protein 1) variants and mutations - accession Q7Z5J4, Homo sapiens, 2689 variants
• RAMP1 (O60894) variants and mutations - accession O60894, Homo sapiens, 386 variants
• RARA (Retinoic acid receptor alpha) variants and mutations - accession P10276, Homo sapiens, 1148 variants
• RASA1 (Ras GTPase-activating protein 1) variants and mutations - accession P20936, Homo sapiens, 1535 variants
• RB1 (P06400) variants and mutations - accession P06400, Homo sapiens, 3857 variants
• RBM10 (RNA-binding protein 10) variants and mutations - accession P98175, Homo sapiens, 3837 variants
• RBM20 (RNA-binding protein 20) variants and mutations - accession Q5T481, Homo sapiens, 2055 variants
• RECQL4 (ATP-dependent DNA helicase Q4) variants and mutations - accession O94761, Homo sapiens, 3711 variants
• REEP1 (Q9H902) variants and mutations - accession Q9H902, Homo sapiens, 348 variants
• REL (Proto-oncogene c-Rel) variants and mutations - accession Q04864, Homo sapiens, 278 variants
• RELA (Transcription factor p65) variants and mutations - accession Q04206, Homo sapiens, 977 variants
• RELN (Reelin) variants and mutations - accession P78509, Homo sapiens, 4727 variants
• REN (Renin) variants and mutations - accession P00797, Homo sapiens, 627 variants
• RET (P07949) variants and mutations - accession P07949, Homo sapiens, 4409 variants
• RHEB (GTP-binding protein Rheb) variants and mutations - accession Q15382, Homo sapiens, 293 variants
• RHO (Rhodopsin) variants and mutations - accession P08100, Homo sapiens, 839 variants
• RINL (Q6ZS11) variants and mutations - accession Q6ZS11, Homo sapiens, 996 variants
• RIT1 (GTP-binding protein Rit1) variants and mutations - accession Q92963, Homo sapiens, 534 variants
• RLBP1 (Retinaldehyde-binding protein 1) variants and mutations - accession P12271, Homo sapiens, 682 variants
• RNF207 (RING finger protein 207) variants and mutations - accession Q6ZRF8, Homo sapiens, 1083 variants
• RNF215 (RING finger protein 215) variants and mutations - accession Q9Y6U7, Homo sapiens, 1013 variants
• ROS1 (P08922) variants and mutations - accession P08922, Homo sapiens, 5943 variants
• RP2 (Protein XRP2) variants and mutations - accession O75695, Homo sapiens, 661 variants
• RPA1 (P27694) variants and mutations - accession P27694, Homo sapiens, 662 variants
• RPE65 (Retinoid isomerohydrolase) variants and mutations - accession Q16518, Homo sapiens, 1062 variants
• RPGR (Q92834) variants and mutations - accession Q92834, Homo sapiens, 569 variants
• RRAD (GTP-binding protein RAD) variants and mutations - accession P55042, Homo sapiens, 672 variants
• RUNX1 (Q01196) variants and mutations - accession Q01196, Homo sapiens, 1893 variants
• RYR1 (Ryanodine receptor 1) variants and mutations - accession P21817, Homo sapiens, 7713 variants
• RYR2 (Ryanodine receptor 2) variants and mutations - accession Q92736, Homo sapiens, 7795 variants
• RYR3 (Ryanodine receptor 3) variants and mutations - accession Q15413, Homo sapiens, 4931 variants
• SATB2 (DNA-binding protein SATB2) variants and mutations - accession Q9UPW6, Homo sapiens, 1153 variants
• SCN10A (Nav1.8) variants and mutations - accession Q9Y5Y9, Homo sapiens, 3282 variants
• SCN1A (Nav1.1) variants and mutations - accession P35498, Homo sapiens, 3810 variants
• SCN1B (Q07699) variants and mutations - accession Q07699, Homo sapiens, 498 variants
• SCN2A (Nav1.2) variants and mutations - accession Q99250, Homo sapiens, 3433 variants
• SCN4A (Nav1.4) variants and mutations - accession P35499, Homo sapiens, 3238 variants
• SCN5A (Nav1.5) variants and mutations - accession Q14524, Homo sapiens, 2422 variants
• SCN8A (Nav1.6) variants and mutations - accession Q9UQD0, Homo sapiens, 2504 variants
• SCN9A (Nav1.7) variants and mutations - accession Q15858, Homo sapiens, 4096 variants
• SDHA (P31040) variants and mutations - accession P31040, Homo sapiens, 1844 variants
• SDHAF2 (Q9NX18) variants and mutations - accession Q9NX18, Homo sapiens, 515 variants
• SDHB (P21912) variants and mutations - accession P21912, Homo sapiens, 925 variants
• SDHC (Q99643) variants and mutations - accession Q99643, Homo sapiens, 515 variants
• SDHD (O14521) variants and mutations - accession O14521, Homo sapiens, 517 variants
• SELENON (Selenoprotein N) variants and mutations - accession Q9NZV5, Homo sapiens, 28 variants
• SERPINA1 (Alpha-1-antitrypsin) variants and mutations - accession P01009, Homo sapiens, 951 variants
• SERPINC1 (Antithrombin-III) variants and mutations - accession P01008, Homo sapiens, 844 variants
• SERPINE1 (P05121) variants and mutations - accession P05121, Homo sapiens, 741 variants
• SETBP1 (SET-binding protein) variants and mutations - accession Q9Y6X0, Homo sapiens, 2534 variants
• SETD1B (Q9UPS6) variants and mutations - accession Q9UPS6, Homo sapiens, 2368 variants
• SETD2 (Q9BYW2) variants and mutations - accession Q9BYW2, Homo sapiens, 10492 variants
• SETD5 (Q9C0A6) variants and mutations - accession Q9C0A6, Homo sapiens, 2081 variants
• SETX (Helicase senataxin) variants and mutations - accession Q7Z333, Homo sapiens, 3603 variants
• SF3B1 (Splicing factor 3B subunit 1) variants and mutations - accession O75533, Homo sapiens, 2363 variants
• SFTPB (P07988) variants and mutations - accession P07988, Homo sapiens, 764 variants
• SFTPC (Surfactant protein C) variants and mutations - accession P11686, Homo sapiens, 420 variants
• SGCA (Alpha-sarcoglycan) variants and mutations - accession Q16586, Homo sapiens, 684 variants
• SGCD (Delta-sarcoglycan) variants and mutations - accession Q92629, Homo sapiens, 614 variants
• SH2B3 (SH2B adapter protein 3) variants and mutations - accession Q9UQQ2, Homo sapiens, 1324 variants
• SH2D1A (SH2 domain-containing protein 1A) variants and mutations - accession O60880, Homo sapiens, 299 variants
• SHANK1 (Q9Y566) variants and mutations - accession Q9Y566, Homo sapiens, 2966 variants
• SHANK2 (Q9UPX8) variants and mutations - accession Q9UPX8, Homo sapiens, 2783 variants
• SHANK3 (Q9BYB0) variants and mutations - accession Q9BYB0, Homo sapiens, 275 variants
• SHMT2 (P34897) variants and mutations - accession P34897, Homo sapiens, 702 variants
• SHTN1 (Shootin-1) variants and mutations - accession A0MZ66, Homo sapiens, 776 variants
• SIRT7 (Q9NRC8) variants and mutations - accession Q9NRC8, Homo sapiens, 719 variants
• SIX1 (Homeobox protein SIX1) variants and mutations - accession Q15475, Homo sapiens, 721 variants
• SLC12A1 (Q13621) variants and mutations - accession Q13621, Homo sapiens, 1860 variants
• SLC12A2 (P55011) variants and mutations - accession P55011, Homo sapiens, 1754 variants
• SLC12A3 (P55017) variants and mutations - accession P55017, Homo sapiens, 1773 variants
• SLC18A2 (Q05940) variants and mutations - accession Q05940, Homo sapiens, 902 variants
• SLC19A3 (Thiamine transporter 2) variants and mutations - accession Q9BZV2, Homo sapiens, 939 variants
• SLC22A1 (O15245) variants and mutations - accession O15245, Homo sapiens, 994 variants
• SLC22A2 (O15244) variants and mutations - accession O15244, Homo sapiens, 976 variants
• SLC22A5 (O76082) variants and mutations - accession O76082, Homo sapiens, 1147 variants
• SLC22A6 (Q4U2R8) variants and mutations - accession Q4U2R8, Homo sapiens, 929 variants
• SLC22A8 (Organic anion transporter 3) variants and mutations - accession Q8TCC7, Homo sapiens, 956 variants
• SLC25A14 (O95258) variants and mutations - accession O95258, Homo sapiens, 453 variants
• SLC25A20 (O43772) variants and mutations - accession O43772, Homo sapiens, 529 variants
• SLC26A2 (Sulfate transporter) variants and mutations - accession P50443, Homo sapiens, 1218 variants
• SLC26A4 (Pendrin) variants and mutations - accession O43511, Homo sapiens, 1712 variants
• SLC2A1 (P11166) variants and mutations - accession P11166, Homo sapiens, 865 variants
• SLC2A10 (O95528) variants and mutations - accession O95528, Homo sapiens, 979 variants
• SLC2A2 (P11168) variants and mutations - accession P11168, Homo sapiens, 836 variants
• SLC2A4 (P14672) variants and mutations - accession P14672, Homo sapiens, 618 variants
• SLC30A8 (Q8IWU4) variants and mutations - accession Q8IWU4, Homo sapiens, 716 variants
• SLC34A3 (Q8N130) variants and mutations - accession Q8N130, Homo sapiens, 1218 variants
• SLC35A2 (UDP-galactose translocator) variants and mutations - accession P78381, Homo sapiens, 670 variants
• SLC37A4 (O43826) variants and mutations - accession O43826, Homo sapiens, 805 variants
• SLC40A1 (Ferroportin) variants and mutations - accession Q9NP59, Homo sapiens, 946 variants
• SLC47A1 (Q96FL8) variants and mutations - accession Q96FL8, Homo sapiens, 918 variants
• SLC4A1 (Band 3 anion transport protein) variants and mutations - accession P02730, Homo sapiens, 1303 variants
• SLC5A2 (Sodium/glucose cotransporter 2) variants and mutations - accession P31639, Homo sapiens, 1182 variants
• SLC6A1 (P30531) variants and mutations - accession P30531, Homo sapiens, 1016 variants
• SLC6A19 (Q695T7) variants and mutations - accession Q695T7, Homo sapiens, 972 variants
• SLC6A3 (Q01959) variants and mutations - accession Q01959, Homo sapiens, 1097 variants
• SLC6A4 (P31645) variants and mutations - accession P31645, Homo sapiens, 854 variants
• SLC8A1 (Sodium/calcium exchanger 1) variants and mutations - accession P32418, Homo sapiens, 1757 variants
• SLC9A3 (Sodium/hydrogen exchanger 3) variants and mutations - accession P48764, Homo sapiens, 1090 variants
• SLC9A6 (Sodium/hydrogen exchanger 6) variants and mutations - accession Q92581, Homo sapiens, 351 variants
• SLCO1B1 (Q9Y6L6) variants and mutations - accession Q9Y6L6, Homo sapiens, 1248 variants
• SMAD2 (SMAD family member 2) variants and mutations - accession Q15796, Homo sapiens, 1791 variants
• SMAD3 (SMAD family member 3) variants and mutations - accession P84022, Homo sapiens, 901 variants
• SMAD4 (SMAD family member 4) variants and mutations - accession Q13485, Homo sapiens, 2832 variants
• SMARCA2 (P51531) variants and mutations - accession P51531, Homo sapiens, 2169 variants
• SMARCA4 (P51532) variants and mutations - accession P51532, Homo sapiens, 7890 variants
• SMARCB1 (Q12824) variants and mutations - accession Q12824, Homo sapiens, 1425 variants
• SMARCE1 (Q969G3) variants and mutations - accession Q969G3, Homo sapiens, 864 variants
• SMC1A (Q14683) variants and mutations - accession Q14683, Homo sapiens, 782 variants
• SMC3 (Q9UQE7) variants and mutations - accession Q9UQE7, Homo sapiens, 720 variants
• SMN1 (Survival motor neuron protein) variants and mutations - accession Q16637, Homo sapiens, 244 variants
• SMO (Protein smoothened) variants and mutations - accession Q99835, Homo sapiens, 3706 variants
• SMPD1 (Sphingomyelin phosphodiesterase) variants and mutations - accession P17405, Homo sapiens, 1242 variants
• SNCA (Alpha-synuclein) variants and mutations - accession P37840, Homo sapiens, 12 variants
• SOCS1 (O15524) variants and mutations - accession O15524, Homo sapiens, 1074 variants
• SOD1 (Superoxide dismutase [Cu-Zn]) variants and mutations - accession P00441, Homo sapiens, 419 variants
• SORL1 (Sortilin-related receptor) variants and mutations - accession Q92673, Homo sapiens, 2870 variants
• SOS1 (Son of sevenless homolog 1) variants and mutations - accession Q07889, Homo sapiens, 2058 variants
• SOS2 (Son of sevenless homolog 2) variants and mutations - accession Q07890, Homo sapiens, 1818 variants
• SOST (Sclerostin) variants and mutations - accession Q9BQB4, Homo sapiens, 707 variants
• SOX10 (Transcription factor SOX-10) variants and mutations - accession P56693, Homo sapiens, 1012 variants
• SOX2 (Transcription factor SOX-2) variants and mutations - accession P48431, Homo sapiens, 1217 variants
• SOX9 (Transcription factor SOX-9) variants and mutations - accession P48436, Homo sapiens, 2691 variants
• SPAST (Spastin) variants and mutations - accession Q9UBP0, Homo sapiens, 1384 variants
• SPG7 (Q9UQ90) variants and mutations - accession Q9UQ90, Homo sapiens, 1377 variants
• SPI1 (Transcription factor PU.1) variants and mutations - accession P17947, Homo sapiens, 595 variants
• SPINK5 (Q9NQ38) variants and mutations - accession Q9NQ38, Homo sapiens, 1687 variants
• SPTA1 (P02549) variants and mutations - accession P02549, Homo sapiens, 4239 variants
• SPTB (Spectrin beta chain, erythrocytic) variants and mutations - accession P11277, Homo sapiens, 2751 variants
• SPTBN2 (O15020) variants and mutations - accession O15020, Homo sapiens, 3169 variants
• SPTBN4 (Q9H254) variants and mutations - accession Q9H254, Homo sapiens, 3489 variants
• SQSTM1 (Sequestosome-1) variants and mutations - accession Q13501, Homo sapiens, 987 variants
• SRC (P12931) variants and mutations - accession P12931, Homo sapiens, 1057 variants
• SRD5A2 (P31213) variants and mutations - accession P31213, Homo sapiens, 631 variants
• SRSF2 (Q01130) variants and mutations - accession Q01130, Homo sapiens, 691 variants
• STAG2 (Cohesin subunit SA-2) variants and mutations - accession Q8N3U4, Homo sapiens, 2391 variants
• STAT1 (P42224) variants and mutations - accession P42224, Homo sapiens, 1056 variants
• STAT2 (P52630) variants and mutations - accession P52630, Homo sapiens, 1035 variants
• STAT3 (P40763) variants and mutations - accession P40763, Homo sapiens, 1620 variants
• STAT4 (Q14765) variants and mutations - accession Q14765, Homo sapiens, 1017 variants
• STAT5B (P51692) variants and mutations - accession P51692, Homo sapiens, 841 variants
• STAT6 (P42226) variants and mutations - accession P42226, Homo sapiens, 1190 variants
• STK11 (Q15831) variants and mutations - accession Q15831, Homo sapiens, 2273 variants
• STXBP1 (Syntaxin-binding protein 1) variants and mutations - accession P61764, Homo sapiens, 823 variants
• SUFU (Suppressor of fused homolog) variants and mutations - accession Q9UMX1, Homo sapiens, 1156 variants
• SUZ12 (Polycomb protein SUZ12) variants and mutations - accession Q15022, Homo sapiens, 886 variants
• SV2A (Synaptic vesicle glycoprotein 2A) variants and mutations - accession Q7L0J3, Homo sapiens, 1001 variants
• SYK (Tyrosine-protein kinase SYK) variants and mutations - accession P43405, Homo sapiens, 1221 variants
• SYNGAP1 (Q96PV0) variants and mutations - accession Q96PV0, Homo sapiens, 1807 variants
• SYNJ1 (O43426) variants and mutations - accession O43426, Homo sapiens, 50 variants
• TAFAZZIN (Q16635) variants and mutations - accession Q16635, Homo sapiens, 479 variants
• TARDBP (TAR DNA-binding protein 43) variants and mutations - accession Q13148, Homo sapiens, 132 variants
• TAS2R5 (Taste receptor type 2 member 5) variants and mutations - accession Q9NYW4, Homo sapiens, 627 variants
• TBCD (Tubulin-specific chaperone D) variants and mutations - accession Q9BTW9, Homo sapiens, 1652 variants
• TBK1 (Q9UHD2) variants and mutations - accession Q9UHD2, Homo sapiens, 901 variants
• TBP (TATA-box-binding protein) variants and mutations - accession P20226, Homo sapiens, 602 variants
• TBX20 (T-box transcription factor TBX20) variants and mutations - accession Q9UMR3, Homo sapiens, 873 variants
• TBX3 (T-box transcription factor TBX3) variants and mutations - accession O15119, Homo sapiens, 697 variants
• TBX5 (T-box transcription factor TBX5) variants and mutations - accession Q99593, Homo sapiens, 1246 variants
• TCF7L2 (Transcription factor 7-like 2) variants and mutations - accession Q9NQB0, Homo sapiens, 2522 variants
• TECRL (Q5HYJ1) variants and mutations - accession Q5HYJ1, Homo sapiens, 622 variants
• TECTA (Alpha-tectorin) variants and mutations - accession O75443, Homo sapiens, 3257 variants
• TERF2 (Q15554) variants and mutations - accession Q15554, Homo sapiens, 753 variants
• TERT (Telomerase reverse transcriptase) variants and mutations - accession O14746, Homo sapiens, 2142 variants
• TET2 (Methylcytosine dioxygenase TET2) variants and mutations - accession Q6N021, Homo sapiens, 5473 variants
• TFRC (Transferrin receptor protein 1) variants and mutations - accession P02786, Homo sapiens, 1156 variants
• TG (Thyroglobulin) variants and mutations - accession P01266, Homo sapiens, 4024 variants
• TGFB2 (P61812) variants and mutations - accession P61812, Homo sapiens, 836 variants
• TGFBR1 (TGF-beta receptor type-1) variants and mutations - accession P36897, Homo sapiens, 1511 variants
• TGFBR2 (TGF-beta receptor type-2) variants and mutations - accession P37173, Homo sapiens, 2235 variants
• TGM1 (P22735) variants and mutations - accession P22735, Homo sapiens, 1372 variants
• TH (Tyrosine 3-monooxygenase) variants and mutations - accession P07101, Homo sapiens, 465 variants
• THRB (Thyroid hormone receptor beta) variants and mutations - accession P10828, Homo sapiens, 756 variants
• TIGIT (Q495A1) variants and mutations - accession Q495A1, Homo sapiens, 655 variants
• TLR3 (Toll-like receptor 3) variants and mutations - accession O15455, Homo sapiens, 1319 variants
• TLR4 (Toll-like receptor 4) variants and mutations - accession O00206, Homo sapiens, 1745 variants
• TLR7 (Toll-like receptor 7) variants and mutations - accession Q9NYK1, Homo sapiens, 1228 variants
• TLR8 (Toll-like receptor 8) variants and mutations - accession Q9NR97, Homo sapiens, 1253 variants
• TLR9 (Toll-like receptor 9) variants and mutations - accession Q9NR96, Homo sapiens, 1506 variants
• TMC1 (Q8TDI8) variants and mutations - accession Q8TDI8, Homo sapiens, 1182 variants
• TMEM127 (Transmembrane protein 127) variants and mutations - accession O75204, Homo sapiens, 1049 variants
• TMEM43 (Transmembrane protein 43) variants and mutations - accession Q9BTV4, Homo sapiens, 758 variants
• TNF (Tumor necrosis factor) variants and mutations - accession P01375, Homo sapiens, 449 variants
• TNFAIP3 (P21580) variants and mutations - accession P21580, Homo sapiens, 1799 variants
• TNFRSF13B (O14836) variants and mutations - accession O14836, Homo sapiens, 699 variants
• TNFRSF13C (Q96RJ3) variants and mutations - accession Q96RJ3, Homo sapiens, 533 variants
• TNFRSF1A (P19438) variants and mutations - accession P19438, Homo sapiens, 973 variants
• TNFRSF1B (P20333) variants and mutations - accession P20333, Homo sapiens, 747 variants
• TNFRSF4 (P43489) variants and mutations - accession P43489, Homo sapiens, 713 variants
• TNFRSF9 (Q07011) variants and mutations - accession Q07011, Homo sapiens, 495 variants
• TNNC1 (P63316) variants and mutations - accession P63316, Homo sapiens, 434 variants
• TNNI1 (Troponin I, slow skeletal muscle) variants and mutations - accession P19237, Homo sapiens, 367 variants
• TNNI3 (Troponin I, cardiac muscle) variants and mutations - accession P19429, Homo sapiens, 672 variants
• TNNT2 (Troponin T, cardiac muscle) variants and mutations - accession P45379, Homo sapiens, 566 variants
• TNXB (Tenascin-X) variants and mutations - accession P22105, Homo sapiens, 5920 variants
• TOP1 (DNA topoisomerase 1) variants and mutations - accession P11387, Homo sapiens, 785 variants
• TOP2A (DNA topoisomerase 2-alpha) variants and mutations - accession P11388, Homo sapiens, 1866 variants
• TP53 (Cellular tumor antigen p53) variants and mutations - accession P04637, Homo sapiens, 2743 variants
• TPM1 (Tropomyosin alpha-1 chain) variants and mutations - accession P09493, Homo sapiens, 541 variants
• TPMT (Thiopurine S-methyltransferase) variants and mutations - accession P51580, Homo sapiens, 388 variants
• TPO (Thyroid peroxidase) variants and mutations - accession P07202, Homo sapiens, 1998 variants
• TRAF3 (TNF receptor-associated factor 3) variants and mutations - accession Q13114, Homo sapiens, 841 variants
• TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2) variants and mutations - accession O43734, Homo sapiens, 307 variants
• TRAF6 (TNF receptor-associated factor 6) variants and mutations - accession Q9Y4K3, Homo sapiens, 793 variants
• TRDN (Triadin) variants and mutations - accession Q13061, Homo sapiens, 1235 variants
• TREX1 (Three-prime repair exonuclease 1) variants and mutations - accession Q9NSU2, Homo sapiens, 901 variants
• TRMU (O75648) variants and mutations - accession O75648, Homo sapiens, 801 variants
• TRPM4 (Q8TD43) variants and mutations - accession Q8TD43, Homo sapiens, 1917 variants
• TSC1 (Hamartin) variants and mutations - accession Q92574, Homo sapiens, 5123 variants
• TSC2 (Tuberin) variants and mutations - accession P49815, Homo sapiens, 7629 variants
• TSHR (Thyrotropin receptor) variants and mutations - accession P16473, Homo sapiens, 1889 variants
• TSLP (Thymic stromal lymphopoietin) variants and mutations - accession Q969D9, Homo sapiens, 399 variants
• TTN (Titin) variants and mutations - accession Q8WZ42, Homo sapiens, 51979 variants
• TTR (Transthyretin) variants and mutations - accession P02766, Homo sapiens, 422 variants
• TUBA1A (Tubulin alpha-1A chain) variants and mutations - accession Q71U36, Homo sapiens, 731 variants
• TUBB2B (Tubulin beta-2B chain) variants and mutations - accession Q9BVA1, Homo sapiens, 669 variants
• TUBB3 (Tubulin beta-3 chain) variants and mutations - accession Q13509, Homo sapiens, 459 variants
• TULP1 (Tubby-related protein 1) variants and mutations - accession O00294, Homo sapiens, 985 variants
• TYK2 (P29597) variants and mutations - accession P29597, Homo sapiens, 1556 variants
• U2AF1 (Q01081) variants and mutations - accession Q01081, Homo sapiens, 642 variants
• UBE3A (Ubiquitin-protein ligase E3A) variants and mutations - accession Q05086, Homo sapiens, 481 variants
• UBQLN2 (Ubiquilin-2) variants and mutations - accession Q9UHD9, Homo sapiens, 1019 variants
• UGT1A1 (UDP-glucuronosyltransferase 1A1) variants and mutations - accession P22309, Homo sapiens, 1285 variants
• UGT2B7 (UDP-glucuronosyltransferase 2B7) variants and mutations - accession P16662, Homo sapiens, 1151 variants
• UMOD (Uromodulin) variants and mutations - accession P07911, Homo sapiens, 1323 variants
• UNC13D (Protein unc-13 homolog D) variants and mutations - accession Q70J99, Homo sapiens, 1629 variants
• UNC80 (Protein unc-80 homolog) variants and mutations - accession Q8N2C7, Homo sapiens, 3484 variants
• UNG (Uracil-DNA glycosylase) variants and mutations - accession P13051, Homo sapiens, 618 variants
• USH1C (Harmonin) variants and mutations - accession Q9Y6N9, Homo sapiens, 937 variants
• USH2A (Usherin) variants and mutations - accession O75445, Homo sapiens, 8895 variants
• VCAN (Versican core protein) variants and mutations - accession P13611, Homo sapiens, 4677 variants
• VCL (Vinculin) variants and mutations - accession P18206, Homo sapiens, 1415 variants
• VCP (P55072) variants and mutations - accession P55072, Homo sapiens, 792 variants
• VDR (Vitamin D3 receptor) variants and mutations - accession P11473, Homo sapiens, 755 variants
• VHL (P40337) variants and mutations - accession P40337, Homo sapiens, 1319 variants
• VIM (Vimentin) variants and mutations - accession P08670, Homo sapiens, 1040 variants
• VKORC1 (Q9BQB6) variants and mutations - accession Q9BQB6, Homo sapiens, 395 variants
• VPS13C (Q709C8) variants and mutations - accession Q709C8, Homo sapiens, 4376 variants
• VPS35 (Q96QK1) variants and mutations - accession Q96QK1, Homo sapiens, 846 variants
• VSIR (Q9H7M9) variants and mutations - accession Q9H7M9, Homo sapiens, 586 variants
• VWF (von Willebrand factor) variants and mutations - accession P04275, Homo sapiens, 3766 variants
• WAS (P42768) variants and mutations - accession P42768, Homo sapiens, 788 variants
• WDR19 (WD repeat-containing protein 19) variants and mutations - accession Q8NEZ3, Homo sapiens, 1621 variants
• WDR45 (Q9Y484) variants and mutations - accession Q9Y484, Homo sapiens, 632 variants
• WEE1 (Wee1-like protein kinase) variants and mutations - accession P30291, Homo sapiens, 1095 variants
• WRN (Q14191) variants and mutations - accession Q14191, Homo sapiens, 2849 variants
• WT1 (Wilms tumor protein) variants and mutations - accession P19544, Homo sapiens, 104 variants
• WWOX (Q9NZC7) variants and mutations - accession Q9NZC7, Homo sapiens, 1110 variants
• WWTR1 (Q9GZV5) variants and mutations - accession Q9GZV5, Homo sapiens, 672 variants
• XIAP (E3 ubiquitin-protein ligase XIAP) variants and mutations - accession P98170, Homo sapiens, 845 variants
• XPA (P23025) variants and mutations - accession P23025, Homo sapiens, 558 variants
• XPC (Q01831) variants and mutations - accession Q01831, Homo sapiens, 1468 variants
• XRCC2 (DNA repair protein XRCC2) variants and mutations - accession O43543, Homo sapiens, 818 variants
• XRCC3 (DNA repair protein XRCC3) variants and mutations - accession O43542, Homo sapiens, 954 variants
• YAP1 (Transcriptional coactivator YAP1) variants and mutations - accession P46937, Homo sapiens, 1002 variants
• ZFHX3 (Zinc finger homeobox protein 3) variants and mutations - accession Q15911, Homo sapiens, 7388 variants
• ZRSR2 (Q15696) variants and mutations - accession Q15696, Homo sapiens, 567 variants