Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.149482940_149483166delCA2695236488IDSc.1234_1460del (p.Gly412HisfsTer11)
c.601_827del (p.Gly201HisfsTer11)
c.964_1190del (p.Gly322HisfsTer11)
Xg.149482949_149483122delCA2580101611IDSc.1277_1450del (p.Ser426_Asp484delinsTyr)
c.644_817del (p.Ser215_Asp273delinsTyr)
c.1007_1180del (p.Ser336_Asp394delinsTyr)
 ClinVar
Xg.149483094_149483100dupCA2695236517IDSc.1300_1306dup (p.Lys436ArgfsTer13)
c.667_673dup (p.Lys225ArgfsTer13)
n.407_413dup
c.1030_1036dup (p.Lys346ArgfsTer13)
Xg.149483096_149483104delCA2695236518IDSc.1298_1306del (p.Arg433_Gly435del)
c.665_673del (p.Arg222_Gly224del)
n.405_413del
c.1028_1036del (p.Arg343_Gly345del)
Xg.149483100T>ACA414518393IDSc.1299A>T (p.Arg433Ser)
c.666A>T (p.Arg222Ser)
n.406A>T
c.1029A>T (p.Arg343Ser)
Xg.149483100T>CCA519174025IDSc.1299A>G (p.Arg433=)
c.666A>G (p.Arg222=)
n.406A>G
c.1029A>G (p.Arg343=)
Xg.149483100T>GCA414518394IDSc.1299A>C (p.Arg433Ser)
c.666A>C (p.Arg222Ser)
n.406A>C
c.1029A>C (p.Arg343Ser)
Xg.149483101C>ACA414518395IDSc.1298G>T (p.Arg433Ile)
c.665G>T (p.Arg222Ile)
n.405G>T
c.1028G>T (p.Arg343Ile)
Xg.149483101C>GCA414518396IDSc.1298G>C (p.Arg433Thr)
c.665G>C (p.Arg222Thr)
n.405G>C
c.1028G>C (p.Arg343Thr)
Xg.149483101C>TCA414518397IDSc.1298G>A (p.Arg433Lys)
c.665G>A (p.Arg222Lys)
n.405G>A
c.1028G>A (p.Arg343Lys)
 gnomAD v4
Xg.149483102_149483106dupCA2695236519IDSc.1294_1298dup (p.Arg433SerfsTer9)
c.661_665dup (p.Arg222SerfsTer9)
n.401_405dup
c.1024_1028dup (p.Arg343SerfsTer9)
Xg.149483102T>ACA414518398IDSc.1297A>T (p.Arg433Ter)
c.664A>T (p.Arg222Ter)
n.404A>T
c.1027A>T (p.Arg343Ter)
Xg.149483102T>CCA414518399IDSc.1297A>G (p.Arg433Gly)
c.664A>G (p.Arg222Gly)
n.404A>G
c.1027A>G (p.Arg343Gly)
 ClinVar dbSNP gnomAD v4
Xg.149483102T>GCA519174026IDSc.1297A>C (p.Arg433=)
c.664A>C (p.Arg222=)
n.404A>C
c.1027A>C (p.Arg343=)
Xg.149483102T=CA2465004048IDSc.1297A= (p.Arg433=)
c.664A= (p.Arg222=)
n.404A=
c.1027A= (p.Arg343=)
Xg.149483103G>ACA519174027IDSc.1296C>T (p.Cys432=)
c.663C>T (p.Cys221=)
n.403C>T
c.1026C>T (p.Cys342=)
 dbSNP gnomAD v2 gnomAD v4
Xg.149483103G>CCA414518400IDSc.1296C>G (p.Cys432Trp)
c.663C>G (p.Cys221Trp)
n.403C>G
c.1026C>G (p.Cys342Trp)
Xg.149483103G=CA2465004049IDSc.1296C= (p.Cys432=)
c.663C= (p.Cys221=)
n.403C=
c.1026C= (p.Cys342=)
Xg.149483103G>TCA414518401IDSc.1296C>A (p.Cys432Ter)
c.663C>A (p.Cys221Ter)
n.403C>A
c.1026C>A (p.Cys342Ter)
Xg.149483104C>ACA414518402IDSc.1295G>T (p.Cys432Phe)
c.662G>T (p.Cys221Phe)
n.402G>T
c.1025G>T (p.Cys342Phe)
 ClinVar
Xg.149483104C>GCA414518403IDSc.1295G>C (p.Cys432Ser)
c.662G>C (p.Cys221Ser)
n.402G>C
c.1025G>C (p.Cys342Ser)
Xg.149483104C>TCA414518404IDSc.1295G>A (p.Cys432Tyr)
c.662G>A (p.Cys221Tyr)
n.402G>A
c.1025G>A (p.Cys342Tyr)
Xg.149483106_149483107dupCA2695236520IDSc.1294_1295dup (p.Arg433AlafsTer8)
c.661_662dup (p.Arg222AlafsTer8)
n.401_402dup
c.1024_1025dup (p.Arg343AlafsTer8)
Xg.149483105A>CCA414518405IDSc.1294T>G (p.Cys432Gly)
c.661T>G (p.Cys221Gly)
n.401T>G
c.1024T>G (p.Cys342Gly)
Xg.149483105A>GCA414518406IDSc.1294T>C (p.Cys432Arg)
c.661T>C (p.Cys221Arg)
n.401T>C
c.1024T>C (p.Cys342Arg)
Xg.149483105A>TCA414518407IDSc.1294T>A (p.Cys432Ser)
c.661T>A (p.Cys221Ser)
n.401T>A
c.1024T>A (p.Cys342Ser)
Xg.149483106C>ACA519174032IDSc.1293G>T (p.Leu431=)
c.660G>T (p.Leu220=)
n.400G>T
c.1023G>T (p.Leu341=)
Xg.149483106C=CA2465004050IDSc.1293G= (p.Leu431=)
c.660G= (p.Leu220=)
n.400G=
c.1023G= (p.Leu341=)
Xg.149483106C>GCA10537463IDSc.1293G>C (p.Leu431=)
c.660G>C (p.Leu220=)
n.400G>C
c.1023G>C (p.Leu341=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.149483106C>TCA519174033IDSc.1293G>A (p.Leu431=)
c.660G>A (p.Leu220=)
n.400G>A
c.1023G>A (p.Leu341=)
 ClinVar dbSNP gnomAD v4
Xg.149483107A>CCA414518408IDSc.1292T>G (p.Leu431Arg)
c.659T>G (p.Leu220Arg)
n.399T>G
c.1022T>G (p.Leu341Arg)
Xg.149483107A>GCA414518409IDSc.1292T>C (p.Leu431Pro)
c.659T>C (p.Leu220Pro)
n.399T>C
c.1022T>C (p.Leu341Pro)
Xg.149483107A>TCA414518410IDSc.1292T>A (p.Leu431Gln)
c.659T>A (p.Leu220Gln)
n.399T>A
c.1022T>A (p.Leu341Gln)
Xg.149483108G>ACA519174037IDSc.1291C>T (p.Leu431=)
c.658C>T (p.Leu220=)
n.398C>T
c.1021C>T (p.Leu341=)
Xg.149483108G>CCA414518411IDSc.1291C>G (p.Leu431Val)
c.658C>G (p.Leu220Val)
n.398C>G
c.1021C>G (p.Leu341Val)
Xg.149483108G>TCA414518412IDSc.1291C>A (p.Leu431Met)
c.658C>A (p.Leu220Met)
n.398C>A
c.1021C>A (p.Leu341Met)
Xg.149483109C>ACA414518414IDSc.1290G>T (p.Glu430Asp)
c.657G>T (p.Glu219Asp)
n.397G>T
c.1020G>T (p.Glu340Asp)
Xg.149483109C=CA2465004051IDSc.1290G= (p.Glu430=)
c.657G= (p.Glu219=)
n.397G=
c.1020G= (p.Glu340=)
Xg.149483109C>GCA414518413IDSc.1290G>C (p.Glu430Asp)
c.657G>C (p.Glu219Asp)
n.397G>C
c.1020G>C (p.Glu340Asp)
Xg.149483109C>TCA10537464IDSc.1290G>A (p.Glu430=)
c.657G>A (p.Glu219=)
n.397G>A
c.1020G>A (p.Glu340=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.149483110T>ACA414518415IDSc.1289A>T (p.Glu430Val)
c.656A>T (p.Glu219Val)
n.396A>T
c.1019A>T (p.Glu340Val)
Xg.149483110T>CCA414518416IDSc.1289A>G (p.Glu430Gly)
c.656A>G (p.Glu219Gly)
n.396A>G
c.1019A>G (p.Glu340Gly)
Xg.149483110T>GCA414518417IDSc.1289A>C (p.Glu430Ala)
c.656A>C (p.Glu219Ala)
n.396A>C
c.1019A>C (p.Glu340Ala)
Xg.149483111C>ACA414518418IDSc.1288G>T (p.Glu430Ter)
c.655G>T (p.Glu219Ter)
n.395G>T
c.1018G>T (p.Glu340Ter)
Xg.149483111C>GCA414518419IDSc.1288G>C (p.Glu430Gln)
c.655G>C (p.Glu219Gln)
n.395G>C
c.1018G>C (p.Glu340Gln)
Xg.149483111C>TCA414518420IDSc.1288G>A (p.Glu430Lys)
c.655G>A (p.Glu219Lys)
n.395G>A
c.1018G>A (p.Glu340Lys)
Xg.149483112A>CCA519174041IDSc.1287T>G (p.Val429=)
c.654T>G (p.Val218=)
n.394T>G
c.1017T>G (p.Val339=)
 gnomAD v4
Xg.149483112A>GCA519174043IDSc.1287T>C (p.Val429=)
c.654T>C (p.Val218=)
n.394T>C
c.1017T>C (p.Val339=)
Xg.149483112A>TCA519174044IDSc.1287T>A (p.Val429=)
c.654T>A (p.Val218=)
n.394T>A
c.1017T>A (p.Val339=)
Xg.149483113A>CCA414518421IDSc.1286T>G (p.Val429Gly)
c.653T>G (p.Val218Gly)
n.393T>G
c.1016T>G (p.Val339Gly)
Xg.149483113A>GCA414518422IDSc.1286T>C (p.Val429Ala)
c.653T>C (p.Val218Ala)
n.393T>C
c.1016T>C (p.Val339Ala)
Xg.149483113A>TCA414518423IDSc.1286T>A (p.Val429Asp)
c.653T>A (p.Val218Asp)
n.393T>A
c.1016T>A (p.Val339Asp)
Xg.149483114C>ACA414518424IDSc.1285G>T (p.Val429Phe)
c.652G>T (p.Val218Phe)
n.392G>T
c.1015G>T (p.Val339Phe)
Xg.149483114C=CA2465004052IDSc.1285G= (p.Val429=)
c.652G= (p.Val218=)
n.392G=
c.1015G= (p.Val339=)
Xg.149483114C>GCA414518425IDSc.1285G>C (p.Val429Leu)
c.652G>C (p.Val218Leu)
n.392G>C
c.1015G>C (p.Val339Leu)
Xg.149483114C>TCA10537465IDSc.1285G>A (p.Val429Ile)
c.652G>A (p.Val218Ile)
n.392G>A
c.1015G>A (p.Val339Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.149483115G>ACA10537466IDSc.1284C>T (p.His428=)
c.651C>T (p.His217=)
n.391C>T
c.1014C>T (p.His338=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.149483115G>CCA414518427IDSc.1284C>G (p.His428Gln)
c.651C>G (p.His217Gln)
n.391C>G
c.1014C>G (p.His338Gln)
Xg.149483115G=CA2465004053IDSc.1284C= (p.His428=)
c.651C= (p.His217=)
n.391C=
c.1014C= (p.His338=)
Xg.149483115G>TCA414518426IDSc.1284C>A (p.His428Gln)
c.651C>A (p.His217Gln)
n.391C>A
c.1014C>A (p.His338Gln)
Xg.149483116_149483117delCA2739289615IDSc.1283_1284del (p.His428ArgfsTer2)
c.650_651del (p.His217ArgfsTer2)
n.390_391del
c.1013_1014del (p.His338ArgfsTer2)
Xg.149483116T>ACA414518429IDSc.1283A>T (p.His428Leu)
c.650A>T (p.His217Leu)
n.390A>T
c.1013A>T (p.His338Leu)
 COSMIC
Xg.149483116T>CCA414518428IDSc.1283A>G (p.His428Arg)
c.650A>G (p.His217Arg)
n.390A>G
c.1013A>G (p.His338Arg)
Xg.149483116T>GCA414518430IDSc.1283A>C (p.His428Pro)
c.650A>C (p.His217Pro)
n.390A>C
c.1013A>C (p.His338Pro)
Xg.149483117G>ACA414518431IDSc.1282C>T (p.His428Tyr)
c.649C>T (p.His217Tyr)
n.389C>T
c.1012C>T (p.His338Tyr)
Xg.149483117G>CCA414518432IDSc.1282C>G (p.His428Asp)
c.649C>G (p.His217Asp)
n.389C>G
c.1012C>G (p.His338Asp)
Xg.149483117G>TCA414518433IDSc.1282C>A (p.His428Asn)
c.649C>A (p.His217Asn)
n.389C>A
c.1012C>A (p.His338Asn)
Xg.149483118A=CA2465004054IDSc.1281T= (p.Phe427=)
c.648T= (p.Phe216=)
n.388T=
c.1011T= (p.Phe337=)
Xg.149483118A>CCA10537467IDSc.1281T>G (p.Phe427Leu)
c.648T>G (p.Phe216Leu)
n.388T>G
c.1011T>G (p.Phe337Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.149483118A>GCA519174051IDSc.1281T>C (p.Phe427=)
c.648T>C (p.Phe216=)
n.388T>C
c.1011T>C (p.Phe337=)
Xg.149483118A>TCA414518434IDSc.1281T>A (p.Phe427Leu)
c.648T>A (p.Phe216Leu)
n.388T>A
c.1011T>A (p.Phe337Leu)
Xg.149483119A>CCA414518435IDSc.1280T>G (p.Phe427Cys)
c.647T>G (p.Phe216Cys)
n.387T>G
c.1010T>G (p.Phe337Cys)
Xg.149483119A>GCA414518436IDSc.1280T>C (p.Phe427Ser)
c.647T>C (p.Phe216Ser)
n.387T>C
c.1010T>C (p.Phe337Ser)
Xg.149483119A>TCA414518437IDSc.1280T>A (p.Phe427Tyr)
c.647T>A (p.Phe216Tyr)
n.387T>A
c.1010T>A (p.Phe337Tyr)
Xg.149483120A=CA2465004055IDSc.1279T= (p.Phe427=)
c.646T= (p.Phe216=)
n.386T=
c.1009T= (p.Phe337=)
Xg.149483120A>CCA414518438IDSc.1279T>G (p.Phe427Val)
c.646T>G (p.Phe216Val)
n.386T>G
c.1009T>G (p.Phe337Val)
Xg.149483120A>GCA414518439IDSc.1279T>C (p.Phe427Leu)
c.646T>C (p.Phe216Leu)
n.386T>C
c.1009T>C (p.Phe337Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.149483120A>TCA414518440IDSc.1279T>A (p.Phe427Ile)
c.646T>A (p.Phe216Ile)
n.386T>A
c.1009T>A (p.Phe337Ile)
Xg.149483121T>ACA519174059IDSc.1278A>T (p.Ser426=)
c.645A>T (p.Ser215=)
n.385A>T
c.1008A>T (p.Ser336=)
Xg.149483121T>CCA519174058IDSc.1278A>G (p.Ser426=)
c.645A>G (p.Ser215=)
n.385A>G
c.1008A>G (p.Ser336=)
 gnomAD v4
Xg.149483121T>GCA519174057IDSc.1278A>C (p.Ser426=)
c.645A>C (p.Ser215=)
n.385A>C
c.1008A>C (p.Ser336=)
Xg.149483122G>ACA414518443IDSc.1277C>T (p.Ser426Leu)
c.644C>T (p.Ser215Leu)
n.384C>T
c.1007C>T (p.Ser336Leu)
Xg.149483122G>CCA414518442IDSc.1277C>G (p.Ser426Ter)
c.644C>G (p.Ser215Ter)
n.384C>G
c.1007C>G (p.Ser336Ter)
Xg.149483122G>TCA414518441IDSc.1277C>A (p.Ser426Ter)
c.644C>A (p.Ser215Ter)
n.384C>A
c.1007C>A (p.Ser336Ter)
Xg.149483125_149483128delCA2695236522IDSc.1274_1277del (p.Pro425HisfsTer14)
c.641_644del (p.Pro214HisfsTer14)
n.381_384del
c.1004_1007del (p.Pro335HisfsTer14)
Xg.149483123A>CCA414518444IDSc.1276T>G (p.Ser426Ala)
c.643T>G (p.Ser215Ala)
n.383T>G
c.1006T>G (p.Ser336Ala)
Xg.149483123A>GCA414518445IDSc.1276T>C (p.Ser426Pro)
c.643T>C (p.Ser215Pro)
n.383T>C
c.1006T>C (p.Ser336Pro)
Xg.149483123A>TCA414518446IDSc.1276T>A (p.Ser426Thr)
c.643T>A (p.Ser215Thr)
n.383T>A
c.1006T>A (p.Ser336Thr)
Xg.149483124A>CCA519174066IDSc.1275T>G (p.Pro425=)
c.642T>G (p.Pro214=)
n.382T>G
c.1005T>G (p.Pro335=)
Xg.149483124A>GCA519174065IDSc.1275T>C (p.Pro425=)
c.642T>C (p.Pro214=)
n.382T>C
c.1005T>C (p.Pro335=)
Xg.149483124A>TCA519174064IDSc.1275T>A (p.Pro425=)
c.642T>A (p.Pro214=)
n.382T>A
c.1005T>A (p.Pro335=)
 ClinVar
Xg.149483125G>ACA414518447IDSc.1274C>T (p.Pro425Leu)
c.641C>T (p.Pro214Leu)
n.381C>T
c.1004C>T (p.Pro335Leu)
Xg.149483125G>CCA414518448IDSc.1274C>G (p.Pro425Arg)
c.641C>G (p.Pro214Arg)
n.381C>G
c.1004C>G (p.Pro335Arg)
Xg.149483125G>TCA414518449IDSc.1274C>A (p.Pro425His)
c.641C>A (p.Pro214His)
n.381C>A
c.1004C>A (p.Pro335His)
Xg.149483126delCA2695236523IDSc.1274del (p.Pro425LeufsTer15)
c.641del (p.Pro214LeufsTer15)
n.381del
c.1004del (p.Pro335LeufsTer15)
Xg.149483126G>ACA414518450IDSc.1273C>T (p.Pro425Ser)
c.640C>T (p.Pro214Ser)
n.380C>T
c.1003C>T (p.Pro335Ser)
Xg.149483126G>CCA414518451IDSc.1273C>G (p.Pro425Ala)
c.640C>G (p.Pro214Ala)
n.380C>G
c.1003C>G (p.Pro335Ala)
Xg.149483126G>TCA414518452IDSc.1273C>A (p.Pro425Thr)
c.640C>A (p.Pro214Thr)
n.380C>A
c.1003C>A (p.Pro335Thr)
Xg.149483127A>CCA519174071IDSc.1272T>G (p.Val424=)
c.639T>G (p.Val213=)
n.379T>G
c.1002T>G (p.Val334=)
Xg.149483127A>GCA519174076IDSc.1272T>C (p.Val424=)
c.639T>C (p.Val213=)
n.379T>C
c.1002T>C (p.Val334=)
 gnomAD v4
Xg.149483127A>TCA519174073IDSc.1272T>A (p.Val424=)
c.639T>A (p.Val213=)
n.379T>A
c.1002T>A (p.Val334=)
Xg.149483128delCA2499226412IDSc.1272del (p.Pro425LeufsTer15)
c.639del (p.Pro214LeufsTer15)
n.379del
c.1002del (p.Pro335LeufsTer15)
 ClinVar dbSNP
Xg.149483128A=CA2465004056IDSc.1271T= (p.Val424=)
c.638T= (p.Val213=)
n.378T=
c.1001T= (p.Val334=)
Xg.149483128A>CCA414518453IDSc.1271T>G (p.Val424Gly)
c.638T>G (p.Val213Gly)
n.378T>G
c.1001T>G (p.Val334Gly)
 dbSNP gnomAD v3 gnomAD v4
Xg.149483128A>GCA414518454IDSc.1271T>C (p.Val424Ala)
c.638T>C (p.Val213Ala)
n.378T>C
c.1001T>C (p.Val334Ala)
Xg.149483128A>TCA414518455IDSc.1271T>A (p.Val424Asp)
c.638T>A (p.Val213Asp)
n.378T>A
c.1001T>A (p.Val334Asp)
Xg.149483128_149483129delCA2695236526IDSc.1270_1271del (p.Val424SerfsTer6)
c.637_638del (p.Val213SerfsTer6)
n.377_378del
c.1000_1001del (p.Val334SerfsTer6)
Xg.149483129delCA2695236528IDSc.1270del (p.Val424PhefsTer16)
c.637del (p.Val213PhefsTer16)
n.377del
c.1000del (p.Val334PhefsTer16)
Xg.149483129C>ACA414518457IDSc.1270G>T (p.Val424Phe)
c.637G>T (p.Val213Phe)
n.377G>T
c.1000G>T (p.Val334Phe)
Xg.149483129C=CA2465004057IDSc.1270G= (p.Val424=)
c.637G= (p.Val213=)
n.377G=
c.1000G= (p.Val334=)
Xg.149483129C>GCA414518456IDSc.1270G>C (p.Val424Leu)
c.637G>C (p.Val213Leu)
n.377G>C
c.1000G>C (p.Val334Leu)
Xg.149483129C>TCA10537468IDSc.1270G>A (p.Val424Ile)
c.637G>A (p.Val213Ile)
n.377G>A
c.1000G>A (p.Val334Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.149483130G>ACA10537469IDSc.1269C>T (p.Pro423=)
c.636C>T (p.Pro212=)
n.376C>T
c.999C>T (p.Pro333=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.149483130G>CCA519174081IDSc.1269C>G (p.Pro423=)
c.636C>G (p.Pro212=)
n.376C>G
c.999C>G (p.Pro333=)
Xg.149483130G=CA2465004058IDSc.1269C= (p.Pro423=)
c.636C= (p.Pro212=)
n.376C=
c.999C= (p.Pro333=)
Xg.149483130G>TCA519174082IDSc.1269C>A (p.Pro423=)
c.636C>A (p.Pro212=)
n.376C>A
c.999C>A (p.Pro333=)
Xg.149483133dupCA2695236531IDSc.1269dup (p.Val424ArgfsTer7)
c.636dup (p.Val213ArgfsTer7)
n.376dup
c.999dup (p.Val334ArgfsTer7)
Xg.149483132_149483133dupCA2695236532IDSc.1268_1269dup (p.Val424ProfsTer17)
c.635_636dup (p.Val213ProfsTer17)
n.375_376dup
c.998_999dup (p.Val334ProfsTer17)
Xg.149483133delCA2580101618IDSc.1269del (p.Val424PhefsTer16)
c.636del (p.Val213PhefsTer16)
n.376del
c.999del (p.Val334PhefsTer16)
 ClinVar dbSNP
Xg.149483131G>ACA414518458IDSc.1268C>T (p.Pro423Leu)
c.635C>T (p.Pro212Leu)
n.375C>T
c.998C>T (p.Pro333Leu)
 ClinVar dbSNP
Xg.149483131G>CCA414518459IDSc.1268C>G (p.Pro423Arg)
c.635C>G (p.Pro212Arg)
n.375C>G
c.998C>G (p.Pro333Arg)
Xg.149483131G=CA2465004059IDSc.1268C= (p.Pro423=)
c.635C= (p.Pro212=)
n.375C=
c.998C= (p.Pro333=)
Xg.149483131G>TCA414518460IDSc.1268C>A (p.Pro423His)
c.635C>A (p.Pro212His)
n.375C>A
c.998C>A (p.Pro333His)
Xg.149483132G>ACA414518461IDSc.1267C>T (p.Pro423Ser)
c.634C>T (p.Pro212Ser)
n.374C>T
c.997C>T (p.Pro333Ser)
 gnomAD v4
Xg.149483132G>CCA414518462IDSc.1267C>G (p.Pro423Ala)
c.634C>G (p.Pro212Ala)
n.374C>G
c.997C>G (p.Pro333Ala)
 gnomAD v4
Xg.149483132G>TCA414518463IDSc.1267C>A (p.Pro423Thr)
c.634C>A (p.Pro212Thr)
n.374C>A
c.997C>A (p.Pro333Thr)
Xg.149483133G>ACA519174089IDSc.1266C>T (p.Cys422=)
c.633C>T (p.Cys211=)
n.373C>T
c.996C>T (p.Cys332=)
Xg.149483133G>CCA414518464IDSc.1266C>G (p.Cys422Trp)
c.633C>G (p.Cys211Trp)
n.373C>G
c.996C>G (p.Cys332Trp)
Xg.149483133G>TCA414518465IDSc.1266C>A (p.Cys422Ter)
c.633C>A (p.Cys211Ter)
n.373C>A
c.996C>A (p.Cys332Ter)
Xg.149483134C>ACA414518466IDSc.1265G>T (p.Cys422Phe)
c.632G>T (p.Cys211Phe)
n.372G>T
c.995G>T (p.Cys332Phe)
 ClinVar dbSNP
Xg.149483134C=CA2465004060IDSc.1265G= (p.Cys422=)
c.632G= (p.Cys211=)
n.372G=
c.995G= (p.Cys332=)
Xg.149483134C>GCA414518467IDSc.1265G>C (p.Cys422Ser)
c.632G>C (p.Cys211Ser)
n.372G>C
c.995G>C (p.Cys332Ser)
Xg.149483134C>TCA10604925IDSc.1265G>A (p.Cys422Tyr)
c.632G>A (p.Cys211Tyr)
n.372G>A
c.995G>A (p.Cys332Tyr)
 ClinVar dbSNP
Xg.149483135A=CA2465004061IDSc.1264T= (p.Cys422=)
c.631T= (p.Cys211=)
n.371T=
c.994T= (p.Cys332=)
Xg.149483135A>CCA255274IDSc.1264T>G (p.Cys422Gly)
c.631T>G (p.Cys211Gly)
n.371T>G
c.994T>G (p.Cys332Gly)
 ClinVar dbSNP
Xg.149483135A>GCA414518469IDSc.1264T>C (p.Cys422Arg)
c.631T>C (p.Cys211Arg)
n.371T>C
c.994T>C (p.Cys332Arg)
 ClinVar dbSNP
Xg.149483135A>TCA414518468IDSc.1264T>A (p.Cys422Ser)
c.631T>A (p.Cys211Ser)
n.371T>A
c.994T>A (p.Cys332Ser)
Xg.149483136G>ACA519174097IDSc.1263C>T (p.Arg421=)
c.630C>T (p.Arg210=)
n.370C>T
c.993C>T (p.Arg331=)
Xg.149483136G>CCA519174098IDSc.1263C>G (p.Arg421=)
c.630C>G (p.Arg210=)
n.370C>G
c.993C>G (p.Arg331=)
Xg.149483136G>TCA519174099IDSc.1263C>A (p.Arg421=)
c.630C>A (p.Arg210=)
n.370C>A
c.993C>A (p.Arg331=)
Xg.149483137C>ACA414518470IDSc.1262G>T (p.Arg421Leu)
c.629G>T (p.Arg210Leu)
n.369G>T
c.992G>T (p.Arg331Leu)
Xg.149483137C=CA2465004062IDSc.1262G= (p.Arg421=)
c.629G= (p.Arg210=)
n.369G=
c.992G= (p.Arg331=)
Xg.149483137C>GCA414518471IDSc.1262G>C (p.Arg421Pro)
c.629G>C (p.Arg210Pro)
n.369G>C
c.992G>C (p.Arg331Pro)
Xg.149483137C>TCA10537470IDSc.1262G>A (p.Arg421His)
c.629G>A (p.Arg210His)
n.369G>A
c.992G>A (p.Arg331His)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.149483138G>ACA10537471IDSc.1261C>T (p.Arg421Cys)
c.628C>T (p.Arg210Cys)
n.368C>T
c.991C>T (p.Arg331Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.149483138G>CCA414518472IDSc.1261C>G (p.Arg421Gly)
c.628C>G (p.Arg210Gly)
n.368C>G
c.991C>G (p.Arg331Gly)
Xg.149483138G=CA2465004063IDSc.1261C= (p.Arg421=)
c.628C= (p.Arg210=)
n.368C=
c.991C= (p.Arg331=)
Xg.149483138G>TCA414518473IDSc.1261C>A (p.Arg421Ser)
c.628C>A (p.Arg210Ser)
n.368C>A
c.991C>A (p.Arg331Ser)
Xg.149483139A>CCA519174106IDSc.1260T>G (p.Pro420=)
c.627T>G (p.Pro209=)
n.367T>G
c.990T>G (p.Pro330=)
Xg.149483139A>GCA519174107IDSc.1260T>C (p.Pro420=)
c.627T>C (p.Pro209=)
n.367T>C
c.990T>C (p.Pro330=)
Xg.149483139A>TCA519174111IDSc.1260T>A (p.Pro420=)
c.627T>A (p.Pro209=)
n.367T>A
c.990T>A (p.Pro330=)
Xg.149483139_149483140delinsAGCA2465004064IDSc.1259_1260delinsCT (p.Pro420=)
c.626_627delinsCT (p.Pro209=)
n.366_367delinsCT
c.989_990delinsCT (p.Pro330=)
Xg.149483140G>ACA414518474IDSc.1259C>T (p.Pro420Leu)
c.626C>T (p.Pro209Leu)
n.366C>T
c.989C>T (p.Pro330Leu)
Xg.149483140G>CCA414518475IDSc.1259C>G (p.Pro420Arg)
c.626C>G (p.Pro209Arg)
n.366C>G
c.989C>G (p.Pro330Arg)
Xg.149483140G=CA2465004066IDSc.1259C= (p.Pro420=)
c.626C= (p.Pro209=)
n.366C=
c.989C= (p.Pro330=)
Xg.149483140G>TCA337035533IDSc.1259C>A (p.Pro420His)
c.626C>A (p.Pro209His)
n.366C>A
c.989C>A (p.Pro330His)
 dbSNP
Xg.149483141delCA2465004065IDSc.1259del (p.Pro420LeufsTer20)
c.626del (p.Pro209LeufsTer20)
n.366del
c.989del (p.Pro330LeufsTer20)
 ClinVar dbSNP
Xg.149483141G>ACA414518476IDSc.1258C>T (p.Pro420Ser)
c.625C>T (p.Pro209Ser)
n.365C>T
c.988C>T (p.Pro330Ser)
Xg.149483141G>CCA414518477IDSc.1258C>G (p.Pro420Ala)
c.625C>G (p.Pro209Ala)
n.365C>G
c.988C>G (p.Pro330Ala)
Xg.149483141G>TCA414518478IDSc.1258C>A (p.Pro420Thr)
c.625C>A (p.Pro209Thr)
n.365C>A
c.988C>A (p.Pro330Thr)
Xg.149483142T>ACA519174119IDSc.1257A>T (p.Pro419=)
c.624A>T (p.Pro208=)
n.364A>T
c.987A>T (p.Pro329=)
Xg.149483142T>CCA10537472IDSc.1257A>G (p.Pro419=)
c.624A>G (p.Pro208=)
n.364A>G
c.987A>G (p.Pro329=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.149483142T>GCA519174122IDSc.1257A>C (p.Pro419=)
c.624A>C (p.Pro208=)
n.364A>C
c.987A>C (p.Pro329=)
Xg.149483142T=CA2465004067IDSc.1257A= (p.Pro419=)
c.624A= (p.Pro208=)
n.364A=
c.987A= (p.Pro329=)
Xg.149483143G>ACA414518480IDSc.1256C>T (p.Pro419Leu)
c.623C>T (p.Pro208Leu)
n.363C>T
c.986C>T (p.Pro329Leu)
Xg.149483143G>CCA414518481IDSc.1256C>G (p.Pro419Arg)
c.623C>G (p.Pro208Arg)
n.363C>G
c.986C>G (p.Pro329Arg)
Xg.149483143G>TCA414518479IDSc.1256C>A (p.Pro419Gln)
c.623C>A (p.Pro208Gln)
n.363C>A
c.986C>A (p.Pro329Gln)
Xg.149483144G>ACA414518484IDSc.1255C>T (p.Pro419Ser)
c.622C>T (p.Pro208Ser)
n.362C>T
c.985C>T (p.Pro329Ser)
 gnomAD v4
Xg.149483144G>CCA414518482IDSc.1255C>G (p.Pro419Ala)
c.622C>G (p.Pro208Ala)
n.362C>G
c.985C>G (p.Pro329Ala)
Xg.149483144G>TCA414518483IDSc.1255C>A (p.Pro419Thr)
c.622C>A (p.Pro208Thr)
n.362C>A
c.985C>A (p.Pro329Thr)
 ClinVar
Xg.149483145A=CA2465004068IDSc.1254T= (p.Val418=)
c.621T= (p.Val207=)
n.361T=
c.984T= (p.Val328=)
Xg.149483145A>CCA519174129IDSc.1254T>G (p.Val418=)
c.621T>G (p.Val207=)
n.361T>G
c.984T>G (p.Val328=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.149483145A>GCA519174130IDSc.1254T>C (p.Val418=)
c.621T>C (p.Val207=)
n.361T>C
c.984T>C (p.Val328=)
 COSMIC
Xg.149483145A>TCA519174131IDSc.1254T>A (p.Val418=)
c.621T>A (p.Val207=)
n.361T>A
c.984T>A (p.Val328=)
Xg.149483146delCA2499226413IDSc.1254del (p.Pro419HisfsTer21)
c.621del (p.Pro208HisfsTer21)
n.361del
c.984del (p.Pro329HisfsTer21)
 ClinVar dbSNP
Xg.149483146A>CCA414518485IDSc.1253T>G (p.Val418Gly)
c.620T>G (p.Val207Gly)
n.360T>G
c.983T>G (p.Val328Gly)
Xg.149483146A>GCA414518486IDSc.1253T>C (p.Val418Ala)
c.620T>C (p.Val207Ala)
n.360T>C
c.983T>C (p.Val328Ala)
 ClinVar
Xg.149483146A>TCA414518487IDSc.1253T>A (p.Val418Asp)
c.620T>A (p.Val207Asp)
n.360T>A
c.983T>A (p.Val328Asp)
Xg.149483147C>ACA414518488IDSc.1252G>T (p.Val418Phe)
c.619G>T (p.Val207Phe)
n.359G>T
c.982G>T (p.Val328Phe)
Xg.149483147C>GCA414518489IDSc.1252G>C (p.Val418Leu)
c.619G>C (p.Val207Leu)
n.359G>C
c.982G>C (p.Val328Leu)
Xg.149483147C>TCA414518490IDSc.1252G>A (p.Val418Ile)
c.619G>A (p.Val207Ile)
n.359G>A
c.982G>A (p.Val328Ile)
Xg.149483148C>ACA414518491IDSc.1251G>T (p.Gln417His)
c.618G>T (p.Gln206His)
n.358G>T
c.981G>T (p.Gln327His)
Xg.149483148C=CA2465004069IDSc.1251G= (p.Gln417=)
c.618G= (p.Gln206=)
n.358G=
c.981G= (p.Gln327=)
Xg.149483148C>GCA414518492IDSc.1251G>C (p.Gln417His)
c.618G>C (p.Gln206His)
n.358G>C
c.981G>C (p.Gln327His)
Xg.149483148C>TCA519174139IDSc.1251G>A (p.Gln417=)
c.618G>A (p.Gln206=)
n.358G>A
c.981G>A (p.Gln327=)
 dbSNP gnomAD v2 gnomAD v4
Xg.149483149T>ACA414518493IDSc.1250A>T (p.Gln417Leu)
c.617A>T (p.Gln206Leu)
n.357A>T
c.980A>T (p.Gln327Leu)
Xg.149483149T>CCA414518494IDSc.1250A>G (p.Gln417Arg)
c.617A>G (p.Gln206Arg)
n.357A>G
c.980A>G (p.Gln327Arg)
 gnomAD v4
Xg.149483149T>GCA414518495IDSc.1250A>C (p.Gln417Pro)
c.617A>C (p.Gln206Pro)
n.357A>C
c.980A>C (p.Gln327Pro)
Xg.149483150G>ACA414518496IDSc.1249C>T (p.Gln417Ter)
c.616C>T (p.Gln206Ter)
n.356C>T
c.979C>T (p.Gln327Ter)
 ClinVar dbSNP
Xg.149483150G>CCA414518498IDSc.1249C>G (p.Gln417Glu)
c.616C>G (p.Gln206Glu)
n.356C>G
c.979C>G (p.Gln327Glu)
 gnomAD v4
Xg.149483150G>TCA414518497IDSc.1249C>A (p.Gln417Lys)
c.616C>A (p.Gln206Lys)
n.356C>A
c.979C>A (p.Gln327Lys)
Xg.149483151C>ACA519174147IDSc.1248G>T (p.Leu416=)
c.615G>T (p.Leu205=)
n.355G>T
c.978G>T (p.Leu326=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.149483151C=CA2465004070IDSc.1248G= (p.Leu416=)
c.615G= (p.Leu205=)
n.355G=
c.978G= (p.Leu326=)
Xg.149483151C>GCA519174148IDSc.1248G>C (p.Leu416=)
c.615G>C (p.Leu205=)
n.355G>C
c.978G>C (p.Leu326=)
Xg.149483151C>TCA519174150IDSc.1248G>A (p.Leu416=)
c.615G>A (p.Leu205=)
n.355G>A
c.978G>A (p.Leu326=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.149483152A=CA2465004071IDSc.1247T= (p.Leu416=)
c.614T= (p.Leu205=)
n.354T=
c.977T= (p.Leu326=)
Xg.149483152A>CCA414518499IDSc.1247T>G (p.Leu416Arg)
c.614T>G (p.Leu205Arg)
n.354T>G
c.977T>G (p.Leu326Arg)
 dbSNP gnomAD v2 gnomAD v4
Xg.149483152A>GCA414518500IDSc.1247T>C (p.Leu416Pro)
c.614T>C (p.Leu205Pro)
n.354T>C
c.977T>C (p.Leu326Pro)
Xg.149483152A>TCA414518501IDSc.1247T>A (p.Leu416Gln)
c.614T>A (p.Leu205Gln)
n.354T>A
c.977T>A (p.Leu326Gln)
Xg.149483153G>ACA519174155IDSc.1246C>T (p.Leu416=)
c.613C>T (p.Leu205=)
n.353C>T
c.976C>T (p.Leu326=)
Xg.149483153G>CCA414518502IDSc.1246C>G (p.Leu416Val)
c.613C>G (p.Leu205Val)
n.353C>G
c.976C>G (p.Leu326Val)
Xg.149483153G=CA2465004072IDSc.1246C= (p.Leu416=)
c.613C= (p.Leu205=)
n.353C=
c.976C= (p.Leu326=)
Xg.149483153G>TCA414518503IDSc.1246C>A (p.Leu416Met)
c.613C>A (p.Leu205Met)
n.353C>A
c.976C>A (p.Leu326Met)
Xg.149483154T>ACA519174160IDSc.1245A>T (p.Gly415=)
c.612A>T (p.Gly204=)
n.352A>T
c.975A>T (p.Gly325=)
Xg.149483154T>CCA519174162IDSc.1245A>G (p.Gly415=)
c.612A>G (p.Gly204=)
n.352A>G
c.975A>G (p.Gly325=)
Xg.149483154T>GCA519174161IDSc.1245A>C (p.Gly415=)
c.612A>C (p.Gly204=)
n.352A>C
c.975A>C (p.Gly325=)
Xg.149483155_149483157dupCA645127362IDSc.1243_1245dup (p.Gly415_Leu416insGly)
c.610_612dup (p.Gly204_Leu205insGly)
n.350_352dup
c.973_975dup (p.Gly325_Leu326insGly)
 dbSNP gnomAD v2 gnomAD v4
Xg.149483155C>ACA414518504IDSc.1244G>T (p.Gly415Val)
c.611G>T (p.Gly204Val)
n.351G>T
c.974G>T (p.Gly325Val)
 gnomAD v4
Xg.149483155C>GCA414518505IDSc.1244G>C (p.Gly415Ala)
c.611G>C (p.Gly204Ala)
n.351G>C
c.974G>C (p.Gly325Ala)
Xg.149483155C>TCA414518506IDSc.1244G>A (p.Gly415Glu)
c.611G>A (p.Gly204Glu)
n.351G>A
c.974G>A (p.Gly325Glu)
 gnomAD v4
Xg.149483156C>ACA414518507IDSc.1243G>T (p.Gly415Ter)
c.610G>T (p.Gly204Ter)
n.350G>T
c.973G>T (p.Gly325Ter)
Xg.149483156C>GCA414518508IDSc.1243G>C (p.Gly415Arg)
c.610G>C (p.Gly204Arg)
n.350G>C
c.973G>C (p.Gly325Arg)
Xg.149483156C>TCA414518509IDSc.1243G>A (p.Gly415Arg)
c.610G>A (p.Gly204Arg)
n.350G>A
c.973G>A (p.Gly325Arg)
Xg.149483157T>ACA519174168IDSc.1242A>T (p.Ala414=)
c.609A>T (p.Ala203=)
n.349A>T
c.972A>T (p.Ala324=)
Xg.149483157T>CCA519174170IDSc.1242A>G (p.Ala414=)
c.609A>G (p.Ala203=)
n.349A>G
c.972A>G (p.Ala324=)
Xg.149483157T>GCA519174172IDSc.1242A>C (p.Ala414=)
c.609A>C (p.Ala203=)
n.349A>C
c.972A>C (p.Ala324=)
Xg.149483158G>ACA414518511IDSc.1241C>T (p.Ala414Val)
c.608C>T (p.Ala203Val)
n.348C>T
c.971C>T (p.Ala324Val)
 gnomAD v4
Xg.149483158G>CCA414518512IDSc.1241C>G (p.Ala414Gly)
c.608C>G (p.Ala203Gly)
n.348C>G
c.971C>G (p.Ala324Gly)
Xg.149483158G>TCA414518510IDSc.1241C>A (p.Ala414Glu)
c.608C>A (p.Ala203Glu)
n.348C>A
c.971C>A (p.Ala324Glu)
Xg.149483159C>ACA414518513IDSc.1240G>T (p.Ala414Ser)
c.607G>T (p.Ala203Ser)
n.347G>T
c.970G>T (p.Ala324Ser)
Xg.149483159C=CA2465004073IDSc.1240G= (p.Ala414=)
c.607G= (p.Ala203=)
n.347G=
c.970G= (p.Ala324=)
Xg.149483159C>GCA414518514IDSc.1240G>C (p.Ala414Pro)
c.607G>C (p.Ala203Pro)
n.347G>C
c.970G>C (p.Ala324Pro)
Xg.149483159C>TCA414518515IDSc.1240G>A (p.Ala414Thr)
c.607G>A (p.Ala203Thr)
n.347G>A
c.970G>A (p.Ala324Thr)
Xg.149483160A>CCA519174183IDSc.1239T>G (p.Leu413=)
c.606T>G (p.Leu202=)
n.346T>G
c.969T>G (p.Leu323=)
Xg.149483160A>GCA519174185IDSc.1239T>C (p.Leu413=)
c.606T>C (p.Leu202=)
n.346T>C
c.969T>C (p.Leu323=)
Xg.149483160A>TCA519174184IDSc.1239T>A (p.Leu413=)
c.606T>A (p.Leu202=)
n.346T>A
c.969T>A (p.Leu323=)
Xg.149483160_149483161insGACA2465004074IDSc.1239_1240insCT (p.Ala414LeufsTer27)
c.606_607insCT (p.Ala203LeufsTer27)
n.346_347insCT
c.969_970insCT (p.Ala324LeufsTer27)
 ClinVar dbSNP
Xg.149483161A>CCA414518516IDSc.1238T>G (p.Leu413Arg)
c.605T>G (p.Leu202Arg)
n.345T>G
c.968T>G (p.Leu323Arg)
 gnomAD v4
Xg.149483161A>GCA414518517IDSc.1238T>C (p.Leu413Pro)
c.605T>C (p.Leu202Pro)
n.345T>C
c.968T>C (p.Leu323Pro)
Xg.149483161A>TCA414518518IDSc.1238T>A (p.Leu413His)
c.605T>A (p.Leu202His)
n.345T>A
c.968T>A (p.Leu323His)
Xg.149483162G>ACA414518519IDSc.1237C>T (p.Leu413Phe)
c.604C>T (p.Leu202Phe)
n.344C>T
c.967C>T (p.Leu323Phe)
Xg.149483162G>CCA414518520IDSc.1237C>G (p.Leu413Val)
c.604C>G (p.Leu202Val)
n.344C>G
c.967C>G (p.Leu323Val)
Xg.149483162G>TCA414518521IDSc.1237C>A (p.Leu413Ile)
c.604C>A (p.Leu202Ile)
n.344C>A
c.967C>A (p.Leu323Ile)
Xg.149483163T>ACA519174192IDSc.1236A>T (p.Gly412=)
c.603A>T (p.Gly201=)
n.343A>T
c.966A>T (p.Gly322=)
Xg.149483163T>CCA10537473IDSc.1236A>G (p.Gly412=)
c.603A>G (p.Gly201=)
n.343A>G
c.966A>G (p.Gly322=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.149483163T>GCA519174195IDSc.1236A>C (p.Gly412=)
c.603A>C (p.Gly201=)
n.343A>C
c.966A>C (p.Gly322=)
Xg.149483163T=CA2465004075IDSc.1236A= (p.Gly412=)
c.603A= (p.Gly201=)
n.343A=
c.966A= (p.Gly322=)
Xg.149483164C>ACA414518522IDSc.1235G>T (p.Gly412Val)
c.602G>T (p.Gly201Val)
n.342G>T
c.965G>T (p.Gly322Val)
Xg.149483164C>GCA414518523IDSc.1235G>C (p.Gly412Ala)
c.602G>C (p.Gly201Ala)
n.342G>C
c.965G>C (p.Gly322Ala)
Xg.149483164C>TCA414518524IDSc.1235G>A (p.Gly412Glu)
c.602G>A (p.Gly201Glu)
n.342G>A
c.965G>A (p.Gly322Glu)
Xg.149483165C>ACA414518526IDSc.1234G>T (p.Gly412Ter)
c.601G>T (p.Gly201Ter)
n.341G>T
c.964G>T (p.Gly322Ter)
 ClinVar dbSNP
Xg.149483165C=CA2465004076IDSc.1234G= (p.Gly412=)
c.601G= (p.Gly201=)
n.341G=
c.964G= (p.Gly322=)
Xg.149483165C>GCA414518527IDSc.1234G>C (p.Gly412Arg)
c.601G>C (p.Gly201Arg)
n.341G>C
c.964G>C (p.Gly322Arg)
Xg.149483165C>TCA414518525IDSc.1234G>A (p.Gly412Arg)
c.601G>A (p.Gly201Arg)
n.341G>A
c.964G>A (p.Gly322Arg)
Xg.149483166A>CCA519174202IDSc.1233T>G (p.Ala411=)
c.600T>G (p.Ala200=)
n.340T>G
c.963T>G (p.Ala321=)
Xg.149483166A>GCA519174203IDSc.1233T>C (p.Ala411=)
c.600T>C (p.Ala200=)
n.340T>C
c.963T>C (p.Ala321=)
 gnomAD v4
Xg.149483166A>TCA519174204IDSc.1233T>A (p.Ala411=)
c.600T>A (p.Ala200=)
n.340T>A
c.963T>A (p.Ala321=)
Xg.149483167G>ACA414518528IDSc.1232C>T (p.Ala411Val)
c.599C>T (p.Ala200Val)
n.339C>T
c.962C>T (p.Ala321Val)
Xg.149483167G>CCA414518529IDSc.1232C>G (p.Ala411Gly)
c.599C>G (p.Ala200Gly)
n.339C>G
c.962C>G (p.Ala321Gly)
Xg.149483167G>TCA414518530IDSc.1232C>A (p.Ala411Asp)
c.599C>A (p.Ala200Asp)
n.339C>A
c.962C>A (p.Ala321Asp)
 gnomAD v4
Xg.149483168C>ACA414518531IDSc.1231G>T (p.Ala411Ser)
c.598G>T (p.Ala200Ser)
n.338G>T
c.961G>T (p.Ala321Ser)
Xg.149483168C>GCA414518532IDSc.1231G>C (p.Ala411Pro)
c.598G>C (p.Ala200Pro)
n.338G>C
c.961G>C (p.Ala321Pro)
Xg.149483168C>TCA414518533IDSc.1231G>A (p.Ala411Thr)
c.598G>A (p.Ala200Thr)
n.338G>A
c.961G>A (p.Ala321Thr)
Xg.149483169C>ACA519174209IDSc.1230G>T (p.Leu410=)
c.597G>T (p.Leu199=)
n.337G>T
c.960G>T (p.Leu320=)
Xg.149483169C>GCA519174207IDSc.1230G>C (p.Leu410=)
c.597G>C (p.Leu199=)
n.337G>C
c.960G>C (p.Leu320=)
Xg.149483169C>TCA519174208IDSc.1230G>A (p.Leu410=)
c.597G>A (p.Leu199=)
n.337G>A
c.960G>A (p.Leu320=)
Xg.149483170A>CCA414518536IDSc.1229T>G (p.Leu410Arg)
c.596T>G (p.Leu199Arg)
n.336T>G
c.959T>G (p.Leu320Arg)
Xg.149483170A>GCA414518534IDSc.1229T>C (p.Leu410Pro)
c.596T>C (p.Leu199Pro)
n.336T>C
c.959T>C (p.Leu320Pro)
Xg.149483170A>TCA414518535IDSc.1229T>A (p.Leu410Gln)
c.596T>A (p.Leu199Gln)
n.336T>A
c.959T>A (p.Leu320Gln)
Xg.149483170dupCA2695236537IDSc.1229dup (p.Ala411GlyfsTer20)
c.596dup (p.Ala200GlyfsTer20)
n.336dup
c.959dup (p.Ala321GlyfsTer20)
Xg.149483171G>ACA519174216IDSc.1228C>T (p.Leu410=)
c.595C>T (p.Leu199=)
n.335C>T
c.958C>T (p.Leu320=)
 COSMIC
Xg.149483171G>CCA414518537IDSc.1228C>G (p.Leu410Val)
c.595C>G (p.Leu199Val)
n.335C>G
c.958C>G (p.Leu320Val)
Xg.149483171G>TCA414518538IDSc.1228C>A (p.Leu410Met)
c.595C>A (p.Leu199Met)
n.335C>A
c.958C>A (p.Leu320Met)
Xg.149483172C>ACA519174220IDSc.1227G>T (p.Thr409=)
c.594G>T (p.Thr198=)
n.334G>T
c.957G>T (p.Thr319=)
 gnomAD v4
Xg.149483172C=CA2465004077IDSc.1227G= (p.Thr409=)
c.594G= (p.Thr198=)
n.334G=
c.957G= (p.Thr319=)
Xg.149483172C>GCA519174221IDSc.1227G>C (p.Thr409=)
c.594G>C (p.Thr198=)
n.334G>C
c.957G>C (p.Thr319=)
Xg.149483172C>TCA247947IDSc.1227G>A (p.Thr409=)
c.594G>A (p.Thr198=)
n.334G>A
c.957G>A (p.Thr319=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.149483173G>ACA10537474IDSc.1226C>T (p.Thr409Met)
c.593C>T (p.Thr198Met)
n.333C>T
c.956C>T (p.Thr319Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.149483173G>CCA414518539IDSc.1226C>G (p.Thr409Arg)
c.593C>G (p.Thr198Arg)
n.333C>G
c.956C>G (p.Thr319Arg)
Xg.149483173G=CA2465004078IDSc.1226C= (p.Thr409=)
c.593C= (p.Thr198=)
n.333C=
c.956C= (p.Thr319=)
Xg.149483173G>TCA414518540IDSc.1226C>A (p.Thr409Lys)
c.593C>A (p.Thr198Lys)
n.333C>A
c.956C>A (p.Thr319Lys)
Xg.149483174T>ACA414518542IDSc.1225A>T (p.Thr409Ser)
c.592A>T (p.Thr198Ser)
n.332A>T
c.955A>T (p.Thr319Ser)
Xg.149483174T>CCA414518543IDSc.1225A>G (p.Thr409Ala)
c.592A>G (p.Thr198Ala)
n.332A>G
c.955A>G (p.Thr319Ala)
Xg.149483174T>GCA414518541IDSc.1225A>C (p.Thr409Pro)
c.592A>C (p.Thr198Pro)
n.332A>C
c.955A>C (p.Thr319Pro)
Xg.149483174_149483175insCCCCA2739289616IDSc.1224_1225insGGG (p.Pro408_Thr409insGly)
c.591_592insGGG (p.Pro197_Thr198insGly)
n.331_332insGGG
c.954_955insGGG (p.Pro318_Thr319insGly)
Xg.149483175G>ACA519174226IDSc.1224C>T (p.Pro408=)
c.591C>T (p.Pro197=)
n.331C>T
c.954C>T (p.Pro318=)
 dbSNP
Xg.149483175G>CCA519174228IDSc.1224C>G (p.Pro408=)
c.591C>G (p.Pro197=)
n.331C>G
c.954C>G (p.Pro318=)
Xg.149483175G=CA2465004079IDSc.1224C= (p.Pro408=)
c.591C= (p.Pro197=)
n.331C=
c.954C= (p.Pro318=)
Xg.149483175G>TCA519174230IDSc.1224C>A (p.Pro408=)
c.591C>A (p.Pro197=)
n.331C>A
c.954C>A (p.Pro318=)
Xg.149483177dupCA2573159288IDSc.1224dup (p.Thr409HisfsTer22)
c.591dup (p.Thr198HisfsTer22)
n.331dup
c.954dup (p.Thr319HisfsTer22)
 ClinVar dbSNP
Xg.149483177delCA2695236538IDSc.1224del (p.Thr409ArgfsTer?)
c.591del (p.Thr198ArgfsTer?)
n.331del
c.954del (p.Thr319ArgfsTer?)
Xg.149483176G>ACA414518545IDSc.1223C>T (p.Pro408Leu)
c.590C>T (p.Pro197Leu)
n.330C>T
c.953C>T (p.Pro318Leu)
 gnomAD v4
Xg.149483176G>CCA414518544IDSc.1223C>G (p.Pro408Arg)
c.590C>G (p.Pro197Arg)
n.330C>G
c.953C>G (p.Pro318Arg)
Xg.149483176G>TCA414518546IDSc.1223C>A (p.Pro408His)
c.590C>A (p.Pro197His)
n.330C>A
c.953C>A (p.Pro318His)
Xg.149483177G>ACA10537475IDSc.1222C>T (p.Pro408Ser)
c.589C>T (p.Pro197Ser)
n.329C>T
c.952C>T (p.Pro318Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.149483177G>CCA414518548IDSc.1222C>G (p.Pro408Ala)
c.589C>G (p.Pro197Ala)
n.329C>G
c.952C>G (p.Pro318Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.149483177G=CA2465004080IDSc.1222C= (p.Pro408=)
c.589C= (p.Pro197=)
n.329C=
c.952C= (p.Pro318=)
Xg.149483177G>TCA414518547IDSc.1222C>A (p.Pro408Thr)
c.589C>A (p.Pro197Thr)
n.329C>A
c.952C>A (p.Pro318Thr)
Xg.149483177delinsTACA2695236539IDSc.1222delinsTA (p.Pro408TyrfsTer23)
c.589delinsTA (p.Pro197TyrfsTer23)
n.329delinsTA
c.952delinsTA (p.Pro318TyrfsTer23)
Xg.149483177_149483178delinsGACA2465004081IDSc.1221_1222delinsTC (p.Phe407=)
c.588_589delinsTC (p.Phe196=)
n.328_329delinsTC
c.951_952delinsTC (p.Phe317=)
Xg.149483178A>CCA414518549IDSc.1221T>G (p.Phe407Leu)
c.588T>G (p.Phe196Leu)
n.328T>G
c.951T>G (p.Phe317Leu)
Xg.149483178A>GCA519174235IDSc.1221T>C (p.Phe407=)
c.588T>C (p.Phe196=)
n.328T>C
c.951T>C (p.Phe317=)
Xg.149483178A>TCA414518550IDSc.1221T>A (p.Phe407Leu)
c.588T>A (p.Phe196Leu)
n.328T>A
c.951T>A (p.Phe317Leu)
 gnomAD v4
Xg.149483182delCA2465004082IDSc.1221del (p.Thr409ArgfsTer?)
c.588del (p.Thr198ArgfsTer?)
n.328del
c.951del (p.Thr319ArgfsTer?)
 ClinVar dbSNP
Xg.149483181_149483182delCA2695236542IDSc.1220_1221del (p.Phe407SerfsTer23)
c.587_588del (p.Phe196SerfsTer23)
n.327_328del
c.950_951del (p.Phe317SerfsTer23)
Xg.149483178_149483185delinsAAAAAGAGCA2465004083IDSc.1214_1221delinsCTCTTTTT (p.Ser405=)
c.581_588delinsCTCTTTTT (p.Ser194=)
n.321_328delinsCTCTTTTT
c.944_951delinsCTCTTTTT (p.Ser315=)
Xg.149483179A>CCA414518551IDSc.1220T>G (p.Phe407Cys)
c.587T>G (p.Phe196Cys)
n.327T>G
c.950T>G (p.Phe317Cys)
Xg.149483179A>GCA414518553IDSc.1220T>C (p.Phe407Ser)
c.587T>C (p.Phe196Ser)
n.327T>C
c.950T>C (p.Phe317Ser)
Xg.149483179A>TCA414518552IDSc.1220T>A (p.Phe407Tyr)
c.587T>A (p.Phe196Tyr)
n.327T>A
c.950T>A (p.Phe317Tyr)
Xg.149483180_149483186delCA2465004084IDSc.1214_1220del (p.Ser405PhefsTer?)
c.581_587del (p.Ser194PhefsTer?)
n.321_327del
c.944_950del (p.Ser315PhefsTer?)
 ClinVar dbSNP
Xg.149483180A>CCA414518554IDSc.1219T>G (p.Phe407Val)
c.586T>G (p.Phe196Val)
n.326T>G
c.949T>G (p.Phe317Val)
Xg.149483180A>GCA414518555IDSc.1219T>C (p.Phe407Leu)
c.586T>C (p.Phe196Leu)
n.326T>C
c.949T>C (p.Phe317Leu)
Xg.149483180A>TCA414518556IDSc.1219T>A (p.Phe407Ile)
c.586T>A (p.Phe196Ile)
n.326T>A
c.949T>A (p.Phe317Ile)
Xg.149483181A>CCA519174241IDSc.1218T>G (p.Leu406=)
c.585T>G (p.Leu195=)
n.325T>G
c.948T>G (p.Leu316=)
Xg.149483181A>GCA519174242IDSc.1218T>C (p.Leu406=)
c.585T>C (p.Leu195=)
n.325T>C
c.948T>C (p.Leu316=)
Xg.149483181A>TCA519174243IDSc.1218T>A (p.Leu406=)
c.585T>A (p.Leu195=)
n.325T>A
c.948T>A (p.Leu316=)
Xg.149483182A>CCA414518557IDSc.1217T>G (p.Leu406Arg)
c.584T>G (p.Leu195Arg)
n.324T>G
c.947T>G (p.Leu316Arg)
Xg.149483182A>GCA414518558IDSc.1217T>C (p.Leu406Pro)
c.584T>C (p.Leu195Pro)
n.324T>C
c.947T>C (p.Leu316Pro)
Xg.149483182A>TCA414518559IDSc.1217T>A (p.Leu406His)
c.584T>A (p.Leu195His)
n.324T>A
c.947T>A (p.Leu316His)
Xg.149483185_149483186delCA2580612500IDSc.1216_1217del (p.Leu406PhefsTer24)
c.583_584del (p.Leu195PhefsTer24)
n.323_324del
c.946_947del (p.Leu316PhefsTer24)
 ClinVar dbSNP
Xg.149483183G>ACA414518560IDSc.1216C>T (p.Leu406Phe)
c.583C>T (p.Leu195Phe)
n.323C>T
c.946C>T (p.Leu316Phe)
Xg.149483183G>CCA414518561IDSc.1216C>G (p.Leu406Val)
c.583C>G (p.Leu195Val)
n.323C>G
c.946C>G (p.Leu316Val)
Xg.149483183G>TCA414518562IDSc.1216C>A (p.Leu406Ile)
c.583C>A (p.Leu195Ile)
n.323C>A
c.946C>A (p.Leu316Ile)
Xg.149483184delCA2695236545IDSc.1215del (p.Leu406PhefsTer?)
c.582del (p.Leu195PhefsTer?)
n.322del
c.945del (p.Leu316PhefsTer?)
Xg.149483184A>CCA519174245IDSc.1215T>G (p.Ser405=)
c.582T>G (p.Ser194=)
n.322T>G
c.945T>G (p.Ser315=)
Xg.149483184A>GCA519174248IDSc.1215T>C (p.Ser405=)
c.582T>C (p.Ser194=)
n.322T>C
c.945T>C (p.Ser315=)
Xg.149483184A>TCA519174250IDSc.1215T>A (p.Ser405=)
c.582T>A (p.Ser194=)
n.322T>A
c.945T>A (p.Ser315=)
Xg.149483185_149483188dupCA2695236546IDSc.1212_1215dup (p.Leu406ValfsTer26)
c.579_582dup (p.Leu195ValfsTer26)
n.319_322dup
c.942_945dup (p.Leu316ValfsTer26)
Xg.149483185G>ACA414518563IDSc.1214C>T (p.Ser405Phe)
c.581C>T (p.Ser194Phe)
n.321C>T
c.944C>T (p.Ser315Phe)
 ClinVar dbSNP COSMIC
Xg.149483185G>CCA414518564IDSc.1214C>G (p.Ser405Cys)
c.581C>G (p.Ser194Cys)
n.321C>G
c.944C>G (p.Ser315Cys)
 gnomAD v4
Xg.149483185G=CA2465004085IDSc.1214C= (p.Ser405=)
c.581C= (p.Ser194=)
n.321C=
c.944C= (p.Ser315=)
Xg.149483185G>TCA414518565IDSc.1214C>A (p.Ser405Tyr)
c.581C>A (p.Ser194Tyr)
n.321C>A
c.944C>A (p.Ser315Tyr)
Xg.149483186A>CCA414518568IDSc.1213T>G (p.Ser405Ala)
c.580T>G (p.Ser194Ala)
n.320T>G
c.943T>G (p.Ser315Ala)
Xg.149483186A>GCA414518566IDSc.1213T>C (p.Ser405Pro)
c.580T>C (p.Ser194Pro)
n.320T>C
c.943T>C (p.Ser315Pro)
Xg.149483186A>TCA414518567IDSc.1213T>A (p.Ser405Thr)
c.580T>A (p.Ser194Thr)
n.320T>A
c.943T>A (p.Ser315Thr)
Xg.149483187C>ACA519174256IDSc.1212G>T (p.Val404=)
c.579G>T (p.Val193=)
n.319G>T
c.942G>T (p.Val314=)
Xg.149483187C>GCA519174257IDSc.1212G>C (p.Val404=)
c.579G>C (p.Val193=)
n.319G>C
c.942G>C (p.Val314=)
 ClinVar dbSNP gnomAD v4
Xg.149483187C>TCA519174258IDSc.1212G>A (p.Val404=)
c.579G>A (p.Val193=)
n.319G>A
c.942G>A (p.Val314=)
 dbSNP
Xg.149483188A>CCA414518569IDSc.1211T>G (p.Val404Gly)
c.578T>G (p.Val193Gly)
n.318T>G
c.941T>G (p.Val314Gly)
Xg.149483188A>GCA414518570IDSc.1211T>C (p.Val404Ala)
c.578T>C (p.Val193Ala)
n.318T>C
c.941T>C (p.Val314Ala)
 COSMIC
Xg.149483188A>TCA414518571IDSc.1211T>A (p.Val404Glu)
c.578T>A (p.Val193Glu)
n.318T>A
c.941T>A (p.Val314Glu)
Xg.149483189C>ACA414518572IDSc.1210G>T (p.Val404Leu)
c.577G>T (p.Val193Leu)
n.317G>T
c.940G>T (p.Val314Leu)
Xg.149483189C>GCA414518573IDSc.1210G>C (p.Val404Leu)
c.577G>C (p.Val193Leu)
n.317G>C
c.940G>C (p.Val314Leu)
Xg.149483189C>TCA414518574IDSc.1210G>A (p.Val404Met)
c.577G>A (p.Val193Met)
n.317G>A
c.940G>A (p.Val314Met)
Xg.149483190A>CCA519174276IDSc.1209T>G (p.Leu403=)
c.576T>G (p.Leu192=)
n.316T>G
c.939T>G (p.Leu313=)
Xg.149483190A>GCA519174274IDSc.1209T>C (p.Leu403=)
c.576T>C (p.Leu192=)
n.316T>C
c.939T>C (p.Leu313=)
Xg.149483190A>TCA519174270IDSc.1209T>A (p.Leu403=)
c.576T>A (p.Leu192=)
n.316T>A
c.939T>A (p.Leu313=)
Xg.149483191A>CCA414518575IDSc.1208T>G (p.Leu403Arg)
c.575T>G (p.Leu192Arg)
n.315T>G
c.938T>G (p.Leu313Arg)
Xg.149483191A>GCA414518576IDSc.1208T>C (p.Leu403Pro)
c.575T>C (p.Leu192Pro)
n.315T>C
c.938T>C (p.Leu313Pro)
Xg.149483191A>TCA414518577IDSc.1208T>A (p.Leu403His)
c.575T>A (p.Leu192His)
n.315T>A
c.938T>A (p.Leu313His)
Xg.149483192G>ACA414518578IDSc.1207C>T (p.Leu403Phe)
c.574C>T (p.Leu192Phe)
n.314C>T
c.937C>T (p.Leu313Phe)
Xg.149483192G>CCA414518579IDSc.1207C>G (p.Leu403Val)
c.574C>G (p.Leu192Val)
n.314C>G
c.937C>G (p.Leu313Val)
 ClinVar
Xg.149483192G>TCA414518580IDSc.1207C>A (p.Leu403Ile)
c.574C>A (p.Leu192Ile)
n.314C>A
c.937C>A (p.Leu313Ile)
Xg.149483193T>ACA414518582IDSc.1206A>T (p.Glu402Asp)
c.573A>T (p.Glu191Asp)
n.313A>T
c.936A>T (p.Glu312Asp)
Xg.149483193T>CCA519174284IDSc.1206A>G (p.Glu402=)
c.573A>G (p.Glu191=)
n.313A>G
c.936A>G (p.Glu312=)
 gnomAD v4
Xg.149483193T>GCA414518581IDSc.1206A>C (p.Glu402Asp)
c.573A>C (p.Glu191Asp)
n.313A>C
c.936A>C (p.Glu312Asp)
Xg.149483194T>ACA414518583IDSc.1205A>T (p.Glu402Val)
c.572A>T (p.Glu191Val)
n.312A>T
c.935A>T (p.Glu312Val)
Xg.149483194T>CCA414518584IDSc.1205A>G (p.Glu402Gly)
c.572A>G (p.Glu191Gly)
n.312A>G
c.935A>G (p.Glu312Gly)
Xg.149483194T>GCA414518585IDSc.1205A>C (p.Glu402Ala)
c.572A>C (p.Glu191Ala)
n.312A>C
c.935A>C (p.Glu312Ala)
 dbSNP
Xg.149483194T=CA2465004086IDSc.1205A= (p.Glu402=)
c.572A= (p.Glu191=)
n.312A=
c.935A= (p.Glu312=)
Xg.149483195C>ACA414518586IDSc.1204G>T (p.Glu402Ter)
c.571G>T (p.Glu191Ter)
n.311G>T
c.934G>T (p.Glu312Ter)
Xg.149483195C>GCA414518587IDSc.1204G>C (p.Glu402Gln)
c.571G>C (p.Glu191Gln)
n.311G>C
c.934G>C (p.Glu312Gln)
Xg.149483195C>TCA414518588IDSc.1204G>A (p.Glu402Lys)
c.571G>A (p.Glu191Lys)
n.311G>A
c.934G>A (p.Glu312Lys)
Xg.149483196C>ACA519174290IDSc.1203G>T (p.Val401=)
c.570G>T (p.Val190=)
n.310G>T
c.933G>T (p.Val311=)
Xg.149483196C>GCA519174297IDSc.1203G>C (p.Val401=)
c.570G>C (p.Val190=)
n.310G>C
c.933G>C (p.Val311=)
Xg.149483196C>TCA519174295IDSc.1203G>A (p.Val401=)
c.570G>A (p.Val190=)
n.310G>A
c.933G>A (p.Val311=)
 ClinVar
Xg.149483198_149483199delCA2579719106IDSc.1202_1203del (p.Val401GlyfsTer29)
c.569_570del (p.Val190GlyfsTer29)
n.309_310del
c.932_933del (p.Val311GlyfsTer29)
Xg.149483197A>CCA414518591IDSc.1202T>G (p.Val401Gly)
c.569T>G (p.Val190Gly)
n.309T>G
c.932T>G (p.Val311Gly)
Xg.149483197A>GCA414518590IDSc.1202T>C (p.Val401Ala)
c.569T>C (p.Val190Ala)
n.309T>C
c.932T>C (p.Val311Ala)
Xg.149483197A>TCA414518589IDSc.1202T>A (p.Val401Glu)
c.569T>A (p.Val190Glu)
n.309T>A
c.932T>A (p.Val311Glu)
Xg.149483198C>ACA414518592IDSc.1201G>T (p.Val401Leu)
c.568G>T (p.Val190Leu)
n.308G>T
c.931G>T (p.Val311Leu)
Xg.149483198C>GCA414518593IDSc.1201G>C (p.Val401Leu)
c.568G>C (p.Val190Leu)
n.308G>C
c.931G>C (p.Val311Leu)
Xg.149483198C>TCA414518594IDSc.1201G>A (p.Val401Met)
c.568G>A (p.Val190Met)
n.308G>A
c.931G>A (p.Val311Met)
Xg.149483199A>CCA519174298IDSc.1200T>G (p.Leu400=)
c.567T>G (p.Leu189=)
n.307T>G
c.930T>G (p.Leu310=)
Xg.149483199A>GCA519174300IDSc.1200T>C (p.Leu400=)
c.567T>C (p.Leu189=)
n.307T>C
c.930T>C (p.Leu310=)
Xg.149483199A>TCA519174303IDSc.1200T>A (p.Leu400=)
c.567T>A (p.Leu189=)
n.307T>A
c.930T>A (p.Leu310=)
Xg.149483200A>CCA414518595IDSc.1199T>G (p.Leu400Arg)
c.566T>G (p.Leu189Arg)
n.306T>G
c.929T>G (p.Leu310Arg)
Xg.149483200A>GCA414518596IDSc.1199T>C (p.Leu400Pro)
c.566T>C (p.Leu189Pro)
n.306T>C
c.929T>C (p.Leu310Pro)
 ClinVar gnomAD v4
Xg.149483200A>TCA414518597IDSc.1199T>A (p.Leu400His)
c.566T>A (p.Leu189His)
n.306T>A
c.929T>A (p.Leu310His)

Number of alleles fetched