AHNAK2 — 2180 ClinVar variants

All ClinVar germline AHNAK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1471 flagged for review →

62 Conflicting · 83 Benign · 4 Benign/Likely benign · 531 Likely benign · 1500 Uncertain significance

Full AHNAK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1471

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 56

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 1370

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 1370

Predictors split 45

The independent predictors disagree with each other — read with care.

All AHNAK2 variants

Conflicting classifications of pathogenicity 62

p.Ala1143Gly Single submitter ⚠
p.Ala148Thr Single submitter
p.Arg403Lys Single submitter ⚠
p.Asp1540His Single submitter ⚠
p.Asp1978Asn Single submitter ⚠
p.Asp1980Ala Single submitter ⚠
p.Asp1980Glu Single submitter ⚠
p.Gln1718His Single submitter ⚠
p.Gln1863Lys Single submitter ⚠
p.Glu1183Ala Single submitter ⚠
p.Glu1183Lys Single submitter ⚠
p.Glu1348Lys Single submitter ⚠
p.Glu1689Lys Single submitter ⚠
p.Glu1733Lys Single submitter ⚠
p.Gly1174Val Single submitter ⚠
p.Gly1225Ser Single submitter ⚠
p.Gly1504Arg Single submitter ⚠
p.Gly2164Arg Single submitter ⚠
p.Gly2302Glu Single submitter ⚠
p.Gly3292Arg Single submitter
p.Gly400Ser Single submitter ⚠
p.Gly5068Ser Single submitter ⚠
p.His3215Gln Single submitter ⚠
p.His4673Leu Single submitter ⚠
p.Ile1596Leu Single submitter ⚠
p.Leu1032Met Single submitter ⚠
p.Leu3376Phe Single submitter ⚠
p.Leu3461Val Single submitter ⚠
p.Leu3521Ile Single submitter ⚠
p.Lys1657Arg Single submitter ⚠
p.Lys1939Arg Single submitter ⚠
p.Lys1962Glu Single submitter ⚠
p.Lys3309Glu Single submitter
p.Met4647Arg Single submitter ⚠
p.Phe1833Leu Single submitter ⚠
p.Phe2163Tyr Single submitter ⚠
p.Pro1087Ala Single submitter ⚠
p.Pro1200Ser Single submitter ⚠
p.Pro1631Arg Single submitter ⚠
p.Pro2041Ala Single submitter ⚠
p.Pro3093Leu Single submitter ⚠
p.Pro4170Leu Single submitter ⚠
p.Pro4301Ser Single submitter ⚠
p.Pro861Leu Single submitter ⚠
p.Pro885Ser Single submitter ⚠
p.Pro902Leu Single submitter ⚠
p.Ser1212Cys Single submitter ⚠
p.Ser1515Leu Single submitter ⚠
p.Ser2010Leu Single submitter ⚠
p.Ser2835Leu Single submitter ⚠
p.Ser3000Leu Single submitter ⚠
p.Ser5096Gly Single submitter ⚠
p.Ser923Arg Single submitter
p.Val1289Met Single submitter ⚠
p.Val1523Ala Single submitter ⚠
p.Val1789Met Single submitter ⚠
p.Val1857Leu Single submitter ⚠
p.Val1857Met Single submitter ⚠
p.Val2549Leu Single submitter ⚠
p.Val2825Met Single submitter ⚠
p.Val2899Leu Single submitter ⚠
p.Val3051Ile Single submitter ⚠

Benign 83

p.Arg22= Multiple submitters
p.Arg2862Ser Multiple submitters
p.Asp2855= Multiple submitters
p.Glu3029Gln Multiple submitters
p.Gly210Ser Multiple submitters
p.Gly2824Arg Multiple submitters
p.Leu3217Pro Multiple submitters
p.Lys2170Arg Multiple submitters
p.Met2187Val Multiple submitters
p.Met3260Thr Multiple submitters
p.Pro2821= Multiple submitters
p.Pro4491= Multiple submitters
p.Val2471Leu Multiple submitters
p.Ala2015= Single submitter
p.Ala2015Glu Single submitter
p.Ala2472Val Single submitter
p.Ala2669= Single submitter
p.Ala2834Val Single submitter
p.Ala2868= Single submitter
p.Ala44= Single submitter
p.Ala5255Gly Single submitter
p.Arg2127Gly Single submitter
p.Asp1462= Single submitter
p.Asp1801= Single submitter
p.Asp1815Ala Single submitter
p.Asp1815Glu Single submitter
p.Asp2012Glu Single submitter
p.Asp2131= Single submitter
p.Asp2810= Single submitter
p.Asp2846= Single submitter
p.Asp3442= Single submitter
p.Asp552Asn Single submitter
p.Cys1872Ser Single submitter
p.Gln2051= Single submitter
p.Glu1134Gln Single submitter
p.Glu1843Gln Single submitter
p.Glu2008Lys Single submitter
p.Glu3194Gln Single submitter
p.Glu3560_Val3569del Single submitter
p.Gly1473= Single submitter
p.Gly1473Ala Single submitter
p.Gly1807= Single submitter
p.Gly2719= Single submitter
p.Gly933= Single submitter
p.His1235Pro Single submitter
p.His3390Arg Single submitter
p.Leu1426Ile Single submitter
p.Leu2333= Single submitter
p.Leu2586Ile Single submitter
p.Leu2670Ser Single submitter
p.Lys2046Glu Single submitter
p.Lys437Asn Single submitter
p.Lys997Arg Single submitter
p.Met2579Val Single submitter
p.Pro1136Leu Single submitter
p.Pro1530Leu Single submitter
p.Pro2016= Single submitter
p.Pro2126fs Single submitter
p.Pro2392= Single submitter
p.Pro2866= Single submitter
p.Pro3526Leu Single submitter
p.Ser1176Thr Single submitter
p.Ser1350Phe Single submitter
p.Ser1502= Single submitter
p.Ser2179Pro Single submitter
p.Ser4485Pro Single submitter
p.Ser688= Single submitter
p.Ser697= Single submitter
p.Ser870Pro Single submitter
p.Thr1704= Single submitter
p.Thr1926Ile Single submitter
p.Thr4127= Single submitter
p.Val1124= Single submitter
p.Val1651Met Single submitter
p.Val1670Ala Single submitter
p.Val2210Met Single submitter
p.Val3668= Single submitter
p.Val3697Leu Single submitter
p.Val3920Ala Single submitter
p.Val4860Glu Single submitter ⚠
p.Val5501Met Single submitter
p.Val899Leu Single submitter
p.Arg51Trp No assertion criteria AHNAK2-related disorder

Benign/Likely benign 4

p.Ala1115Val Multiple submitters
p.Ala1818Thr Multiple submitters
p.Gly3108Ser Multiple submitters
p.Leu1032Val Multiple submitters

Likely benign 531

Showing the top 300 by review status; the full set is in the sitemap.

p.Ala1323Thr Multiple submitters
p.Arg2659Gly Multiple submitters
p.Asp5450Ala Multiple submitters
p.Gly2726Ser Multiple submitters
p.Ile3248Val Multiple submitters
p.Leu2222Pro Multiple submitters
p.Leu3542Pro Multiple submitters
p.Lys2211Glu Multiple submitters
p.Met2682Val Multiple submitters
p.Met4152Ile Multiple submitters
p.Met4291Val Multiple submitters
p.Pro2225His Multiple submitters
p.Pro703= Multiple submitters
p.Ser1567Pro Multiple submitters
p.Val1688Ala Multiple submitters
p.Val1724Met Multiple submitters
p.Val1896Leu Multiple submitters
p.3472KFKMP[1] Single submitter
p.Ala1115Thr Single submitter
p.Ala1158Thr Single submitter
p.Ala1175= Single submitter
p.Ala1284fs Single submitter
p.Ala1355= Single submitter
p.Ala1465= Single submitter
p.Ala1468= Single submitter
p.Ala1570= Single submitter
p.Ala1650= Single submitter
p.Ala1679Asp Single submitter
p.Ala1850Val Single submitter
p.Ala1878= Single submitter
p.Ala1931Pro Single submitter
p.Ala1940= Single submitter
p.Ala1968= Single submitter
p.Ala1977= Single submitter
p.Ala2043Thr Single submitter
p.Ala2065= Single submitter
p.Ala2133= Single submitter
p.Ala2185= Single submitter
p.Ala2313Thr Single submitter
p.Ala2345Val Single submitter
p.Ala2373= Single submitter
p.Ala2528Thr Single submitter
p.Ala2600Thr Single submitter
p.Ala2628Val Single submitter
p.Ala2834= Single submitter
p.Ala2868Thr Single submitter
p.Ala2930= Single submitter
p.Ala3010= Single submitter
p.Ala3138Thr Single submitter
p.Ala3170Val Single submitter
p.Ala3335Val Single submitter
p.Ala3338Val Single submitter
p.Ala3425Val Single submitter
p.Ala3445= Single submitter
p.Ala3453= Single submitter
p.Ala3500= Single submitter
p.Ala3500Val Single submitter
p.Ala3505= Single submitter
p.Ala3665Val Single submitter
p.Ala3755= Single submitter
p.Ala3957= Single submitter
p.Ala4013Thr Single submitter
p.Ala4154= Single submitter
p.Ala4230Asp Single submitter
p.Ala4325Val Single submitter
p.Ala4490Val Single submitter
p.Ala4584Val Single submitter
p.Ala5767= Single submitter
p.Ala702Val Single submitter
p.Ala74Thr Single submitter
p.Ala785Val Single submitter
p.Ala813Val Single submitter
p.Ala950Val Single submitter
p.Arg1269Lys Single submitter
p.Arg1632Gly Single submitter
p.Arg2005Lys Single submitter
p.Arg2299Gln Single submitter
p.Arg3124Gln Single submitter
p.Arg3319Gly Single submitter
p.Arg3447Gly Single submitter
p.Arg3593Thr Single submitter
p.Arg3649Gly Single submitter
p.Arg3777Gly Single submitter
p.Arg385Pro Single submitter
p.Arg418Ser Single submitter
p.Arg4279Gln Single submitter
p.Arg4512Ser Single submitter
p.Arg4609Gln Single submitter
p.Arg814Gln Single submitter
p.Arg96= Single submitter
p.Asn2757Lys Single submitter
p.Asn4421Asp Single submitter
p.Asn5582= Single submitter
p.Asp1132= Single submitter
p.Asp1155Glu Single submitter
p.Asp1196Glu Single submitter
p.Asp1313Glu Single submitter
p.Asp1393= Single submitter
p.Asp1526= Single submitter
p.Asp1590= Single submitter
p.Asp1627= Single submitter
p.Asp1643Glu Single submitter
p.Asp1769Tyr Single submitter
p.Asp1781= Single submitter
p.Asp1792= Single submitter
p.Asp1801Glu Single submitter
p.Asp1820= Single submitter
p.Asp1910Glu Single submitter
p.Asp2021Asn Single submitter
p.Asp2099Tyr Single submitter
p.Asp2102Gly Single submitter
p.Asp2145= Single submitter
p.Asp2218= Single submitter
p.Asp2267Gly Single submitter
p.Asp2441= Single submitter
p.Asp2782= Single submitter
p.Asp2798Glu Single submitter
p.Asp3002= Single submitter
p.Asp3112= Single submitter
p.Asp3208= Single submitter
p.Asp3247Gly Single submitter
p.Asp3341= Single submitter
p.Asp3341Glu Single submitter
p.Asp3465= Single submitter
p.Asp3628Asn Single submitter
p.Asp3772= Single submitter
p.Asp4125fs Single submitter
p.Asp4125Glu Single submitter
p.Asp4237= Single submitter
p.Asp4331Glu Single submitter
p.Asp4423Glu Single submitter
p.Asp4676His Single submitter
p.Asp5044= Single submitter
p.Asp708= Single submitter
p.Asp736Ala Single submitter
p.Asp854Ala Single submitter
p.Asp91= Single submitter
p.Asp967= Single submitter
p.Asp990= Single submitter
p.Cys4827Ser Single submitter
p.Gln1214Glu Single submitter
p.Gln1556= Single submitter
p.Gln1745Glu Single submitter
p.Gln1895His Single submitter
p.Gln1895Pro Single submitter
p.Gln1961Pro Single submitter
p.Gln212Lys Single submitter
p.Gln2216= Single submitter
p.Gln2446Leu Single submitter
p.Gln2546= Single submitter
p.Gln2570Glu Single submitter
p.Gln276Arg Single submitter
p.Gln3106Leu Single submitter
p.Gln3230Glu Single submitter
p.Gln3271Leu Single submitter
p.Gln3328Glu Single submitter
p.Gln3524Glu Single submitter
p.Gln3536= Single submitter
p.Gln4104Arg Single submitter
p.Gln78Arg Single submitter
p.Gln971Pro Single submitter
p.Glu1085= Single submitter
p.Glu1267Asp Single submitter
p.Glu1430= Single submitter
p.Glu1464Gln Single submitter
p.Glu1477Asp Single submitter
p.Glu1513Lys Single submitter
p.Glu1794Gln Single submitter
p.Glu2075Gln Single submitter
p.Glu2338Lys Single submitter
p.Glu2454Gln Single submitter
p.Glu2578Lys Single submitter
p.Glu2601Asp Single submitter
p.Glu2665Lys Single submitter
p.Glu2679= Single submitter
p.Glu2743Lys Single submitter
p.Glu2840Ala Single submitter
p.Glu2949Gln Single submitter
p.Glu307= Single submitter
p.Glu3540Lys Single submitter
p.Glu4038= Single submitter
p.Glu4269Gln Single submitter
p.Glu5427Gly Single submitter
p.Glu567Lys Single submitter
p.Glu825Asp Single submitter
p.Gly1014= Single submitter
p.Gly1147= Single submitter
p.Gly1179Asp Single submitter
p.Gly1179Ser Single submitter
p.Gly1307Asp Single submitter
p.Gly1307Ser Single submitter
p.Gly1344= Single submitter
p.Gly1428Arg Single submitter
p.Gly1509= Single submitter
p.Gly1593= Single submitter
p.Gly1736= Single submitter
p.Gly1885Val Single submitter
p.Gly1972= Single submitter
p.Gly2164Val Single submitter
p.Gly2253Arg Single submitter
p.Gly2396Ser Single submitter
p.Gly2640= Single submitter
p.Gly2640Asp Single submitter
p.Gly2664= Single submitter
p.Gly2710Asp Single submitter
p.Gly2797= Single submitter
p.Gly27Arg Single submitter
p.Gly2805Asp Single submitter
p.Gly2920= Single submitter
p.Gly3019= Single submitter
p.Gly3370Arg Single submitter
p.Gly3654= Single submitter
p.Gly4149Ser Single submitter
p.Gly4211Ser Single submitter
p.Gly4314= Single submitter
p.Gly5225Glu Single submitter
p.Gly5226Asp Single submitter
p.Gly5630Asp Single submitter
p.Gly895Val Single submitter
p.Gly957Val Single submitter
p.Gly982= Single submitter
p.His1070= Single submitter
p.His1235= Single submitter
p.His2060= Single submitter
p.His2060Pro Single submitter
p.His2134Gln Single submitter
p.His2885= Single submitter
p.His3380= Single submitter
p.His3827Asp Single submitter
p.His4345Asp Single submitter
p.Ile1213Val Single submitter
p.Ile1378= Single submitter
p.Ile1433Val Single submitter
p.Ile1677= Single submitter
p.Ile1708= Single submitter
p.Ile1842= Single submitter
p.Ile2093Val Single submitter
p.Ile2533= Single submitter
p.Ile2832= Single submitter
p.Ile2916Val Single submitter
p.Ile3026Leu Single submitter
p.Ile3523= Single submitter
p.Ile4499Leu Single submitter
p.Ile5268Val Single submitter
p.Leu1020Met Single submitter
p.Leu1020Ser Single submitter
p.Leu1041= Single submitter
p.Leu1151= Single submitter
p.Leu1232Pro Single submitter
p.Leu1376= Single submitter
p.Leu1387Val Single submitter
p.Leu1392Val Single submitter
p.Leu1396= Single submitter
p.Leu1440= Single submitter
p.Leu1536= Single submitter
p.Leu1694Phe Single submitter
p.Leu1731= Single submitter
p.Leu1731Val Single submitter
p.Leu1741= Single submitter
p.Leu1749Phe Single submitter
p.Leu1871Ile Single submitter
p.Leu1906= Single submitter
p.Leu2031= Single submitter
p.Leu2086_Asp2092del Single submitter
p.Leu2100= Single submitter
p.Leu2135= Single submitter
p.Leu2141= Single submitter
p.Leu2239Val Single submitter
p.Leu2333Pro Single submitter
p.Leu2361= Single submitter
p.Leu2404Val Single submitter
p.Leu2460= Single submitter
p.Leu2531= Single submitter
p.Leu2734Val Single submitter
p.Leu3090= Single submitter
p.Leu3131= Single submitter
p.Leu3217= Single submitter
p.Leu3217Ile Single submitter
p.Leu3229Val Single submitter
p.Leu3455= Single submitter
p.Leu3461= Single submitter
p.Leu3729= Single submitter
p.Leu3846= Single submitter
p.Leu3872Pro Single submitter
p.Leu4110= Single submitter
p.Leu4161Pro Single submitter
p.Leu4206Val Single submitter
p.Leu4286= Single submitter
p.Leu5645Phe Single submitter
p.Leu748Val Single submitter
p.Leu766Phe Single submitter
p.Leu810= Single submitter
p.Leu901= Single submitter
p.Leu986= Single submitter
p.Lys1018Glu Single submitter
p.Lys1027= Single submitter
p.Lys1056Glu Single submitter
p.Lys1083= Single submitter
p.Lys1090= Single submitter
p.Lys1107= Single submitter

Uncertain significance 1500

Showing the top 300 by review status; the full set is in the sitemap.

p.Glu3598Lys Multiple submitters ⚠
p.Gly4376Ser Multiple submitters ⚠
p.Lys2479Arg Multiple submitters ⚠
p.Lys3309Asn Multiple submitters ⚠
p.Val1351Met Multiple submitters ⚠
p.Ala1138Pro Single submitter ⚠
p.Ala1143Val Single submitter ⚠
p.Ala1184Asp Single submitter ⚠
p.Ala1190Pro Single submitter ⚠
p.Ala1195Thr Single submitter ⚠
p.Ala1514Asp Single submitter ⚠
p.Ala1520Pro Single submitter ⚠
p.Ala1520Val Single submitter ⚠
p.Ala1538Asp Single submitter ⚠
p.Ala1548Ser Single submitter ⚠
p.Ala1554Thr Single submitter ⚠
p.Ala1614Val Single submitter ⚠
p.Ala1653Thr Single submitter ⚠
p.Ala1690Thr Single submitter ⚠
p.Ala1719Asp Single submitter ⚠
p.Ala1779Thr Single submitter ⚠
p.Ala1779Val Single submitter ⚠
p.Ala1798Thr Single submitter ⚠
p.Ala1812Pro Single submitter ⚠
p.Ala1812Val Single submitter ⚠
p.Ala1818Val Single submitter ⚠
p.Ala1850Pro Single submitter ⚠
p.Ala1878Val Single submitter ⚠
p.Ala1931Thr Single submitter ⚠
p.Ala1940Val Single submitter ⚠
p.Ala1944Asp Single submitter ⚠
p.Ala1944Val Single submitter ⚠
p.Ala1963Pro Single submitter ⚠
p.Ala1968Gly Single submitter ⚠
p.Ala1983Thr Single submitter ⚠
p.Ala2009Thr Single submitter ⚠
p.Ala2009Val Single submitter ⚠
p.Ala2043Val Single submitter ⚠
p.Ala207Ser Single submitter ⚠
p.Ala2133Val Single submitter ⚠
p.Ala2174Val Single submitter ⚠
p.Ala2185Thr Single submitter ⚠
p.Ala2214Thr Single submitter ⚠
p.Ala2274Val Single submitter ⚠
p.Ala2293Thr Single submitter ⚠
p.Ala2298Gly Single submitter ⚠
p.Ala2298Thr Single submitter ⚠
p.Ala2298Val Single submitter ⚠
p.Ala2307Pro Single submitter ⚠
p.Ala2345Pro Single submitter ⚠
p.Ala2439Thr Single submitter ⚠
p.Ala2463Gly Single submitter ⚠
p.Ala2463Val Single submitter ⚠
p.Ala2504Val Single submitter ⚠
p.Ala2510Val Single submitter ⚠
p.Ala2538Thr Single submitter ⚠
p.Ala2560Thr Single submitter ⚠
p.Ala2600Val Single submitter ⚠
p.Ala2604Val Single submitter ⚠
p.Ala2709Val Single submitter ⚠
p.Ala2765Thr Single submitter ⚠
p.Ala2793Thr Single submitter ⚠
p.Ala2827Asp Single submitter ⚠
p.Ala2827Pro Single submitter ⚠
p.Ala2834Asp Single submitter ⚠
p.Ala2874Thr Single submitter ⚠
p.Ala290Thr Single submitter ⚠
p.Ala2930Thr Single submitter ⚠
p.Ala2930Val Single submitter ⚠
p.Ala3005Glu Single submitter ⚠
p.Ala3005Val Single submitter ⚠
p.Ala313Thr Single submitter ⚠
p.Ala3175Thr Single submitter ⚠
p.Ala3198Ser Single submitter ⚠
p.Ala3280Asp Single submitter ⚠
p.Ala3283Thr Single submitter ⚠
p.Ala3329Val Single submitter ⚠
p.Ala3335Glu Single submitter ⚠
p.Ala3340Gly Single submitter ⚠
p.Ala3369Asp Single submitter ⚠
p.Ala3445Val Single submitter ⚠
p.Ala3453Val Single submitter ⚠
p.Ala3468Thr Single submitter ⚠
p.Ala3500Glu Single submitter ⚠
p.Ala3518Gly Single submitter ⚠
p.Ala3528Thr Single submitter ⚠
p.Ala3534Thr Single submitter ⚠
p.Ala3534Val Single submitter ⚠
p.Ala3613Gly Single submitter ⚠
p.Ala3633Gly Single submitter ⚠
p.Ala3652Gly Single submitter ⚠
p.Ala3659Ser Single submitter ⚠
p.Ala3665Thr Single submitter ⚠
p.Ala3755Val Single submitter ⚠
p.Ala3864Val Single submitter ⚠
p.Ala390Pro Single submitter ⚠
p.Ala3948Val Single submitter ⚠
p.Ala3957Val Single submitter ⚠
p.Ala3982Ser Single submitter ⚠
p.Ala3982Val Single submitter ⚠
p.Ala3989Thr Single submitter ⚠
p.Ala3995Glu Single submitter ⚠
p.Ala3995Thr Single submitter ⚠
p.Ala4013Asp Single submitter ⚠
p.Ala4023Thr Single submitter ⚠
p.Ala4045Gly Single submitter ⚠
p.Ala4089Val Single submitter ⚠
p.Ala4122Val Single submitter ⚠
p.Ala416Glu Single submitter ⚠
p.Ala4210Asp Single submitter ⚠
p.Ala4250Val Single submitter ⚠
p.Ala4312Ser Single submitter ⚠
p.Ala4319Val Single submitter ⚠
p.Ala4325Glu Single submitter ⚠
p.Ala4325Pro Single submitter ⚠
p.Ala4353Thr Single submitter ⚠
p.Ala4495Thr Single submitter ⚠
p.Ala4518Ser Single submitter ⚠
p.Ala4518Thr Single submitter ⚠
p.Ala4524Pro Single submitter ⚠
p.Ala4584Thr Single submitter ⚠
p.Ala4600Val Single submitter ⚠
p.Ala4622Thr Single submitter ⚠
p.Ala4751Val Single submitter ⚠
p.Ala4765Ser Single submitter ⚠
p.Ala4805Val Single submitter ⚠
p.Ala4935Ser Single submitter ⚠
p.Ala5033Val Single submitter ⚠
p.Ala5054Val Single submitter ⚠
p.Ala5079Thr Single submitter ⚠
p.Ala5180Thr Single submitter ⚠
p.Ala519Pro Single submitter ⚠
p.Ala5220Ser Single submitter ⚠
p.Ala5457Thr Single submitter ⚠
p.Ala5532Gly Single submitter ⚠
p.Ala5767Thr Single submitter ⚠
p.Ala617fs Single submitter
p.Ala669Thr Single submitter ⚠
p.Ala689Val Single submitter ⚠
p.Ala696Asp Single submitter ⚠
p.Ala860Glu Single submitter ⚠
p.Ala860Pro Single submitter ⚠
p.Ala894Asp Single submitter ⚠
p.Ala978Val Single submitter ⚠
p.Arg100Lys Single submitter ⚠
p.Arg1474Pro Single submitter ⚠
p.Arg241Gly Single submitter
p.Arg247Gly Single submitter
p.Arg2629Gln Single submitter ⚠
p.Arg2629Gly Single submitter ⚠
p.Arg271Trp Single submitter ⚠
p.Arg2794Trp Single submitter ⚠
p.Arg2862Pro Single submitter
p.Arg2959Gln Single submitter ⚠
p.Arg2959Pro Single submitter ⚠
p.Arg319Lys Single submitter ⚠
p.Arg321Gln Single submitter ⚠
p.Arg3289Gln Single submitter ⚠
p.Arg3289Pro Single submitter ⚠
p.Arg3289Trp Single submitter ⚠
p.Arg344Ser Single submitter ⚠
p.Arg3454Trp Single submitter ⚠
p.Arg3619Trp Single submitter ⚠
p.Arg376Met Single submitter ⚠
p.Arg3777Lys Single submitter ⚠
p.Arg385Ter Single submitter
p.Arg3949Trp Single submitter ⚠
p.Arg4444Gln Single submitter ⚠
p.Arg4444Trp Single submitter ⚠
p.Arg448Leu Single submitter ⚠
p.Arg4512Cys Single submitter ⚠
p.Arg4512His Single submitter ⚠
p.Arg4682Cys Single submitter ⚠
p.Arg4771Gln Single submitter ⚠
p.Arg4901Lys Single submitter ⚠
p.Arg4964Gly Single submitter ⚠
p.Arg5202Cys Single submitter ⚠
p.Arg5202Gly Single submitter ⚠
p.Arg5202His Single submitter ⚠
p.Arg623Ser Single submitter ⚠
p.Arg628Cys Single submitter ⚠
p.Arg628Leu Single submitter ⚠
p.Arg628Pro Single submitter ⚠
p.Arg656His Single submitter ⚠
p.Arg83Ile Single submitter
p.Arg96Trp Single submitter ⚠
p.Asn1723Lys Single submitter ⚠
p.Asn4404Asp Single submitter ⚠
p.Asn4685Ile Single submitter ⚠
p.Asn5419Ile Single submitter ⚠
p.Asn5452Tyr Single submitter ⚠
p.Asp1022His Single submitter ⚠
p.Asp1045Gly Single submitter ⚠
p.Asp1109Ala Single submitter ⚠
p.Asp1121Gly Single submitter ⚠
p.Asp1155Ala Single submitter ⚠
p.Asp1187His Single submitter ⚠
p.Asp1196Asn Single submitter ⚠
p.Asp1210His Single submitter ⚠
p.Asp1219Asn Single submitter ⚠
p.Asp1260Ala Single submitter ⚠
p.Asp1318Asn Single submitter ⚠
p.Asp1352His Single submitter ⚠
p.Asp1370His Single submitter ⚠
p.Asp1393Gly Single submitter ⚠
p.Asp1425Gly Single submitter ⚠
p.Asp1483Glu Single submitter ⚠
p.Asp1485Ala Single submitter ⚠
p.Asp1485Glu Single submitter ⚠
p.Asp1535His Single submitter ⚠
p.Asp1549Gly Single submitter ⚠
p.Asp1558Asn Single submitter ⚠
p.Asp1590Ala Single submitter ⚠
p.Asp1590Glu Single submitter ⚠
p.Asp1604Glu Single submitter ⚠
p.Asp1616Asn Single submitter ⚠
p.Asp1648His Single submitter ⚠
p.Asp1714His Single submitter ⚠
p.Asp1769His Single submitter ⚠
p.Asp1781Asn Single submitter ⚠
p.Asp1781Glu Single submitter ⚠
p.Asp1781Val Single submitter ⚠
p.Asp1792Glu Single submitter ⚠
p.Asp1865Tyr Single submitter ⚠
p.Asp1870Glu Single submitter ⚠
p.Asp1870His Single submitter ⚠
p.Asp1910His Single submitter ⚠
p.Asp1920Ala Single submitter ⚠
p.Asp1966Ala Single submitter ⚠
p.Asp1966Glu Single submitter ⚠
p.Asp1966His Single submitter ⚠
p.Asp1978Tyr Single submitter ⚠
p.Asp2012His Single submitter ⚠
p.Asp2030Asn Single submitter ⚠
p.Asp2035His Single submitter ⚠
p.Asp2085Ala Single submitter ⚠
p.Asp2085Gly Single submitter ⚠
p.Asp2102His Single submitter ⚠
p.Asp2150Val Single submitter ⚠
p.Asp2200His Single submitter ⚠
p.Asp220Ala Single submitter ⚠
p.Asp223Gly Single submitter ⚠
p.Asp2250Tyr Single submitter ⚠
p.Asp2303Val Single submitter ⚠
p.Asp2342Asn Single submitter ⚠
p.Asp2415Val Single submitter ⚠
p.Asp2441Val Single submitter ⚠
p.Asp2452His Single submitter ⚠
p.Asp2461Asn Single submitter ⚠
p.Asp2468Val Single submitter ⚠
p.Asp2475Ala Single submitter ⚠
p.Asp2475Glu Single submitter ⚠
p.Asp2480Glu Single submitter ⚠
p.Asp2539Glu Single submitter ⚠
p.Asp2606Asn Single submitter ⚠
p.Asp2638Gly Single submitter ⚠
p.Asp2681Glu Single submitter ⚠
p.Asp2690Val Single submitter ⚠
p.Asp2771Gly Single submitter ⚠
p.Asp2798Asn Single submitter ⚠
p.Asp2803Asn Single submitter ⚠
p.Asp2846Glu Single submitter ⚠
p.Asp2860His Single submitter ⚠
p.Asp2878Asn Single submitter ⚠
p.Asp2878Glu Single submitter
p.Asp2910Ala Single submitter ⚠
p.Asp2936Asn Single submitter ⚠
p.Asp2936His Single submitter ⚠
p.Asp2956Tyr Single submitter ⚠
p.Asp3020His Single submitter ⚠
p.Asp3025His Single submitter ⚠
p.Asp3101Asn Single submitter ⚠
p.Asp3176Asn Single submitter ⚠
p.Asp3185Ala Single submitter ⚠
p.Asp3293Tyr Single submitter ⚠
p.Asp3300Gly Single submitter ⚠
p.Asp3305His Single submitter ⚠
p.Asp3341Asn Single submitter ⚠
p.Asp3355His Single submitter ⚠
p.Asp3412His Single submitter ⚠
p.Asp3442Tyr Single submitter ⚠
p.Asp3465fs Single submitter
p.Asp3465Glu Single submitter ⚠
p.Asp3506Glu Single submitter ⚠
p.Asp3520His Single submitter ⚠
p.Asp3529Gly Single submitter ⚠
p.Asp3570Ala Single submitter ⚠
p.Asp3616Ala Single submitter ⚠
p.Asp3662Glu Single submitter ⚠
p.Asp3662Gly Single submitter ⚠
p.Asp3685Gly Single submitter ⚠
p.Asp3703Glu Single submitter ⚠
p.Asp3788Tyr Single submitter ⚠
p.Asp3845Gly Single submitter ⚠
p.Asp3845Tyr Single submitter ⚠
p.Asp3850Asn Single submitter ⚠
p.Asp3900Asn Single submitter ⚠
p.Asp3907Asn Single submitter ⚠
p.Asp3992Tyr Single submitter ⚠
p.Asp4001Asn Single submitter ⚠