Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.68885538_68885541dupCA2574568093STOX1c.1742_1745dup (p.Phe583ProfsTer13)
c.2078_2081dup (p.Phe695ProfsTer13)
c.463+3428_463+3431dup (n.463+3428_463+3431dup)
c.663+1079_663+1082dup (n.663+1079_663+1082dup)
c.1412_1415dup (p.Phe473ProfsTer13)
10g.68885541T>ACA376881725STOX1c.1745T>A (p.Leu582His)
c.2081T>A (p.Leu694His)
c.463+3431T>A (n.463+3431T>A)
c.663+1082T>A (n.663+1082T>A)
c.1415T>A (p.Leu472His)
10g.68885541T>CCA376881724STOX1c.1745T>C (p.Leu582Pro)
c.2081T>C (p.Leu694Pro)
c.463+3431T>C (n.463+3431T>C)
c.663+1082T>C (n.663+1082T>C)
c.1415T>C (p.Leu472Pro)
10g.68885541T>GCA376881723STOX1c.1745T>G (p.Leu582Arg)
c.2081T>G (p.Leu694Arg)
c.463+3431T>G (n.463+3431T>G)
c.663+1082T>G (n.663+1082T>G)
c.1415T>G (p.Leu472Arg)
10g.68885542C>ACA470274068STOX1c.1746C>A (p.Leu582=)
c.2082C>A (p.Leu694=)
c.463+3432C>A (n.463+3432C>A)
c.663+1083C>A (n.663+1083C>A)
c.1416C>A (p.Leu472=)
10g.68885542C=CA1917550026STOX1c.1746C= (p.Leu582=)
c.2082C= (p.Leu694=)
c.463+3432C= (n.463+3432C=)
c.663+1083C= (n.663+1083C=)
c.1416C= (p.Leu472=)
10g.68885542C>GCA470274067STOX1c.1746C>G (p.Leu582=)
c.2082C>G (p.Leu694=)
c.463+3432C>G (n.463+3432C>G)
c.663+1083C>G (n.663+1083C>G)
c.1416C>G (p.Leu472=)
10g.68885542C>TCA208268169STOX1c.1746C>T (p.Leu582=)
c.2082C>T (p.Leu694=)
c.463+3432C>T (n.463+3432C>T)
c.663+1083C>T (n.663+1083C>T)
c.1416C>T (p.Leu472=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.68885543T>ACA376881728STOX1c.1747T>A (p.Phe583Ile)
c.2083T>A (p.Phe695Ile)
c.463+3433T>A (n.463+3433T>A)
c.663+1084T>A (n.663+1084T>A)
c.1417T>A (p.Phe473Ile)
10g.68885543T>CCA376881726STOX1c.1747T>C (p.Phe583Leu)
c.2083T>C (p.Phe695Leu)
c.463+3433T>C (n.463+3433T>C)
c.663+1084T>C (n.663+1084T>C)
c.1417T>C (p.Phe473Leu)
 dbSNP gnomAD v2 gnomAD v4
10g.68885543T>GCA376881727STOX1c.1747T>G (p.Phe583Val)
c.2083T>G (p.Phe695Val)
c.463+3433T>G (n.463+3433T>G)
c.663+1084T>G (n.663+1084T>G)
c.1417T>G (p.Phe473Val)
10g.68885543T=CA1917550027STOX1c.1747T= (p.Phe583=)
c.2083T= (p.Phe695=)
c.463+3433T= (n.463+3433T=)
c.663+1084T= (n.663+1084T=)
c.1417T= (p.Phe473=)
10g.68885544T>ACA376881729STOX1c.1748T>A (p.Phe583Tyr)
c.2084T>A (p.Phe695Tyr)
c.463+3434T>A (n.463+3434T>A)
c.663+1085T>A (n.663+1085T>A)
c.1418T>A (p.Phe473Tyr)
10g.68885544T>CCA376881730STOX1c.1748T>C (p.Phe583Ser)
c.2084T>C (p.Phe695Ser)
c.463+3434T>C (n.463+3434T>C)
c.663+1085T>C (n.663+1085T>C)
c.1418T>C (p.Phe473Ser)
10g.68885544T>GCA376881731STOX1c.1748T>G (p.Phe583Cys)
c.2084T>G (p.Phe695Cys)
c.463+3434T>G (n.463+3434T>G)
c.663+1085T>G (n.663+1085T>G)
c.1418T>G (p.Phe473Cys)
10g.68885545C>ACA376881732STOX1c.1749C>A (p.Phe583Leu)
c.2085C>A (p.Phe695Leu)
c.463+3435C>A (n.463+3435C>A)
c.663+1086C>A (n.663+1086C>A)
c.1419C>A (p.Phe473Leu)
10g.68885545C=CA1917550028STOX1c.1749C= (p.Phe583=)
c.2085C= (p.Phe695=)
c.463+3435C= (n.463+3435C=)
c.663+1086C= (n.663+1086C=)
c.1419C= (p.Phe473=)
10g.68885545C>GCA376881733STOX1c.1749C>G (p.Phe583Leu)
c.2085C>G (p.Phe695Leu)
c.463+3435C>G (n.463+3435C>G)
c.663+1086C>G (n.663+1086C>G)
c.1419C>G (p.Phe473Leu)
10g.68885545C>TCA208268172STOX1c.1749C>T (p.Phe583=)
c.2085C>T (p.Phe695=)
c.463+3435C>T (n.463+3435C>T)
c.663+1086C>T (n.663+1086C>T)
c.1419C>T (p.Phe473=)
 dbSNP gnomAD v2 gnomAD v4
10g.68885546A=CA1917550029STOX1c.1750A= (p.Ser584=)
c.2086A= (p.Ser696=)
c.463+3436A= (n.463+3436A=)
c.663+1087A= (n.663+1087A=)
c.1420A= (p.Ser474=)
10g.68885546A>CCA376881734STOX1c.1750A>C (p.Ser584Arg)
c.2086A>C (p.Ser696Arg)
c.463+3436A>C (n.463+3436A>C)
c.663+1087A>C (n.663+1087A>C)
c.1420A>C (p.Ser474Arg)
10g.68885546A>GCA5528221STOX1c.1750A>G (p.Ser584Gly)
c.2086A>G (p.Ser696Gly)
c.463+3436A>G (n.463+3436A>G)
c.663+1087A>G (n.663+1087A>G)
c.1420A>G (p.Ser474Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.68885546A>TCA376881735STOX1c.1750A>T (p.Ser584Cys)
c.2086A>T (p.Ser696Cys)
c.463+3436A>T (n.463+3436A>T)
c.663+1087A>T (n.663+1087A>T)
c.1420A>T (p.Ser474Cys)
 gnomAD v4
10g.68885547G>ACA376881736STOX1c.1751G>A (p.Ser584Asn)
c.2087G>A (p.Ser696Asn)
c.463+3437G>A (n.463+3437G>A)
c.663+1088G>A (n.663+1088G>A)
c.1421G>A (p.Ser474Asn)
 dbSNP
10g.68885547G>CCA376881737STOX1c.1751G>C (p.Ser584Thr)
c.2087G>C (p.Ser696Thr)
c.463+3437G>C (n.463+3437G>C)
c.663+1088G>C (n.663+1088G>C)
c.1421G>C (p.Ser474Thr)
10g.68885547G=CA1917550030STOX1c.1751G= (p.Ser584=)
c.2087G= (p.Ser696=)
c.463+3437G= (n.463+3437G=)
c.663+1088G= (n.663+1088G=)
c.1421G= (p.Ser474=)
10g.68885547G>TCA376881738STOX1c.1751G>T (p.Ser584Ile)
c.2087G>T (p.Ser696Ile)
c.463+3437G>T (n.463+3437G>T)
c.663+1088G>T (n.663+1088G>T)
c.1421G>T (p.Ser474Ile)
10g.68885548T>ACA376881739STOX1c.1752T>A (p.Ser584Arg)
c.2088T>A (p.Ser696Arg)
c.463+3438T>A (n.463+3438T>A)
c.663+1089T>A (n.663+1089T>A)
c.1422T>A (p.Ser474Arg)
10g.68885548T>CCA470274069STOX1c.1752T>C (p.Ser584=)
c.2088T>C (p.Ser696=)
c.463+3438T>C (n.463+3438T>C)
c.663+1089T>C (n.663+1089T>C)
c.1422T>C (p.Ser474=)
10g.68885548T>GCA376881740STOX1c.1752T>G (p.Ser584Arg)
c.2088T>G (p.Ser696Arg)
c.463+3438T>G (n.463+3438T>G)
c.663+1089T>G (n.663+1089T>G)
c.1422T>G (p.Ser474Arg)
10g.68885549C>ACA376881741STOX1c.1753C>A (p.His585Asn)
c.2089C>A (p.His697Asn)
c.463+3439C>A (n.463+3439C>A)
c.663+1090C>A (n.663+1090C>A)
c.1423C>A (p.His475Asn)
 gnomAD v4
10g.68885549C=CA1917550031STOX1c.1753C= (p.His585=)
c.2089C= (p.His697=)
c.463+3439C= (n.463+3439C=)
c.663+1090C= (n.663+1090C=)
c.1423C= (p.His475=)
10g.68885549C>GCA376881742STOX1c.1753C>G (p.His585Asp)
c.2089C>G (p.His697Asp)
c.463+3439C>G (n.463+3439C>G)
c.663+1090C>G (n.663+1090C>G)
c.1423C>G (p.His475Asp)
10g.68885549C>TCA5528222STOX1c.1753C>T (p.His585Tyr)
c.2089C>T (p.His697Tyr)
c.463+3439C>T (n.463+3439C>T)
c.663+1090C>T (n.663+1090C>T)
c.1423C>T (p.His475Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.68885550A>CCA376881743STOX1c.1754A>C (p.His585Pro)
c.2090A>C (p.His697Pro)
c.463+3440A>C (n.463+3440A>C)
c.663+1091A>C (n.663+1091A>C)
c.1424A>C (p.His475Pro)
10g.68885550A>GCA376881744STOX1c.1754A>G (p.His585Arg)
c.2090A>G (p.His697Arg)
c.463+3440A>G (n.463+3440A>G)
c.663+1091A>G (n.663+1091A>G)
c.1424A>G (p.His475Arg)
10g.68885550A>TCA376881745STOX1c.1754A>T (p.His585Leu)
c.2090A>T (p.His697Leu)
c.463+3440A>T (n.463+3440A>T)
c.663+1091A>T (n.663+1091A>T)
c.1424A>T (p.His475Leu)
10g.68885551C>ACA376881746STOX1c.1755C>A (p.His585Gln)
c.2091C>A (p.His697Gln)
c.463+3441C>A (n.463+3441C>A)
c.663+1092C>A (n.663+1092C>A)
c.1425C>A (p.His475Gln)
 gnomAD v4
10g.68885551C=CA1917550032STOX1c.1755C= (p.His585=)
c.2091C= (p.His697=)
c.463+3441C= (n.463+3441C=)
c.663+1092C= (n.663+1092C=)
c.1425C= (p.His475=)
10g.68885551C>GCA376881747STOX1c.1755C>G (p.His585Gln)
c.2091C>G (p.His697Gln)
c.463+3441C>G (n.463+3441C>G)
c.663+1092C>G (n.663+1092C>G)
c.1425C>G (p.His475Gln)
10g.68885551C>TCA470274070STOX1c.1755C>T (p.His585=)
c.2091C>T (p.His697=)
c.463+3441C>T (n.463+3441C>T)
c.663+1092C>T (n.663+1092C>T)
c.1425C>T (p.His475=)
 dbSNP gnomAD v4
10g.68885552C>ACA376881748STOX1c.1756C>A (p.Pro586Thr)
c.2092C>A (p.Pro698Thr)
c.463+3442C>A (n.463+3442C>A)
c.663+1093C>A (n.663+1093C>A)
c.1426C>A (p.Pro476Thr)
10g.68885552C=CA1917550033STOX1c.1756C= (p.Pro586=)
c.2092C= (p.Pro698=)
c.463+3442C= (n.463+3442C=)
c.663+1093C= (n.663+1093C=)
c.1426C= (p.Pro476=)
10g.68885552C>GCA376881749STOX1c.1756C>G (p.Pro586Ala)
c.2092C>G (p.Pro698Ala)
c.463+3442C>G (n.463+3442C>G)
c.663+1093C>G (n.663+1093C>G)
c.1426C>G (p.Pro476Ala)
 dbSNP
10g.68885552C>TCA376881750STOX1c.1756C>T (p.Pro586Ser)
c.2092C>T (p.Pro698Ser)
c.463+3442C>T (n.463+3442C>T)
c.663+1093C>T (n.663+1093C>T)
c.1426C>T (p.Pro476Ser)
 gnomAD v4
10g.68885553C>ACA376881752STOX1c.1757C>A (p.Pro586His)
c.2093C>A (p.Pro698His)
c.463+3443C>A (n.463+3443C>A)
c.663+1094C>A (n.663+1094C>A)
c.1427C>A (p.Pro476His)
10g.68885553C>GCA376881753STOX1c.1757C>G (p.Pro586Arg)
c.2093C>G (p.Pro698Arg)
c.463+3443C>G (n.463+3443C>G)
c.663+1094C>G (n.663+1094C>G)
c.1427C>G (p.Pro476Arg)
10g.68885553C>TCA376881751STOX1c.1757C>T (p.Pro586Leu)
c.2093C>T (p.Pro698Leu)
c.463+3443C>T (n.463+3443C>T)
c.663+1094C>T (n.663+1094C>T)
c.1427C>T (p.Pro476Leu)
10g.68885554T>ACA470274073STOX1c.1758T>A (p.Pro586=)
c.2094T>A (p.Pro698=)
c.463+3444T>A (n.463+3444T>A)
c.663+1095T>A (n.663+1095T>A)
c.1428T>A (p.Pro476=)
10g.68885554T>CCA470274072STOX1c.1758T>C (p.Pro586=)
c.2094T>C (p.Pro698=)
c.463+3444T>C (n.463+3444T>C)
c.663+1095T>C (n.663+1095T>C)
c.1428T>C (p.Pro476=)
10g.68885554T>GCA470274071STOX1c.1758T>G (p.Pro586=)
c.2094T>G (p.Pro698=)
c.463+3444T>G (n.463+3444T>G)
c.663+1095T>G (n.663+1095T>G)
c.1428T>G (p.Pro476=)
10g.68885555C>ACA376881754STOX1c.1759C>A (p.Gln587Lys)
c.2095C>A (p.Gln699Lys)
c.463+3445C>A (n.463+3445C>A)
c.663+1096C>A (n.663+1096C>A)
c.1429C>A (p.Gln477Lys)
10g.68885555C=CA1917550034STOX1c.1759C= (p.Gln587=)
c.2095C= (p.Gln699=)
c.463+3445C= (n.463+3445C=)
c.663+1096C= (n.663+1096C=)
c.1429C= (p.Gln477=)
10g.68885555C>GCA5528223STOX1c.1759C>G (p.Gln587Glu)
c.2095C>G (p.Gln699Glu)
c.463+3445C>G (n.463+3445C>G)
c.663+1096C>G (n.663+1096C>G)
c.1429C>G (p.Gln477Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.68885555C>TCA376881755STOX1c.1759C>T (p.Gln587Ter)
c.2095C>T (p.Gln699Ter)
c.463+3445C>T (n.463+3445C>T)
c.663+1096C>T (n.663+1096C>T)
c.1429C>T (p.Gln477Ter)
10g.68885556A>CCA376881756STOX1c.1760A>C (p.Gln587Pro)
c.2096A>C (p.Gln699Pro)
c.463+3446A>C (n.463+3446A>C)
c.663+1097A>C (n.663+1097A>C)
c.1430A>C (p.Gln477Pro)
10g.68885556A>GCA376881757STOX1c.1760A>G (p.Gln587Arg)
c.2096A>G (p.Gln699Arg)
c.463+3446A>G (n.463+3446A>G)
c.663+1097A>G (n.663+1097A>G)
c.1430A>G (p.Gln477Arg)
10g.68885556A>TCA376881758STOX1c.1760A>T (p.Gln587Leu)
c.2096A>T (p.Gln699Leu)
c.463+3446A>T (n.463+3446A>T)
c.663+1097A>T (n.663+1097A>T)
c.1430A>T (p.Gln477Leu)
10g.68885557A>CCA376881759STOX1c.1761A>C (p.Gln587His)
c.2097A>C (p.Gln699His)
c.463+3447A>C (n.463+3447A>C)
c.663+1098A>C (n.663+1098A>C)
c.1431A>C (p.Gln477His)
10g.68885557A>GCA470274074STOX1c.1761A>G (p.Gln587=)
c.2097A>G (p.Gln699=)
c.463+3447A>G (n.463+3447A>G)
c.663+1098A>G (n.663+1098A>G)
c.1431A>G (p.Gln477=)
10g.68885557A>TCA376881760STOX1c.1761A>T (p.Gln587His)
c.2097A>T (p.Gln699His)
c.463+3447A>T (n.463+3447A>T)
c.663+1098A>T (n.663+1098A>T)
c.1431A>T (p.Gln477His)
10g.68885558C>ACA376881761STOX1c.1762C>A (p.Gln588Lys)
c.2098C>A (p.Gln700Lys)
c.463+3448C>A (n.463+3448C>A)
c.663+1099C>A (n.663+1099C>A)
c.1432C>A (p.Gln478Lys)
10g.68885558C=CA1917550035STOX1c.1762C= (p.Gln588=)
c.2098C= (p.Gln700=)
c.463+3448C= (n.463+3448C=)
c.663+1099C= (n.663+1099C=)
c.1432C= (p.Gln478=)
10g.68885558C>GCA376881762STOX1c.1762C>G (p.Gln588Glu)
c.2098C>G (p.Gln700Glu)
c.463+3448C>G (n.463+3448C>G)
c.663+1099C>G (n.663+1099C>G)
c.1432C>G (p.Gln478Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.68885558C>TCA376881763STOX1c.1762C>T (p.Gln588Ter)
c.2098C>T (p.Gln700Ter)
c.463+3448C>T (n.463+3448C>T)
c.663+1099C>T (n.663+1099C>T)
c.1432C>T (p.Gln478Ter)
10g.68885559A=CA1917550036STOX1c.1763A= (p.Gln588=)
c.2099A= (p.Gln700=)
c.463+3449A= (n.463+3449A=)
c.663+1100A= (n.663+1100A=)
c.1433A= (p.Gln478=)
10g.68885559A>CCA376881764STOX1c.1763A>C (p.Gln588Pro)
c.2099A>C (p.Gln700Pro)
c.463+3449A>C (n.463+3449A>C)
c.663+1100A>C (n.663+1100A>C)
c.1433A>C (p.Gln478Pro)
10g.68885559A>GCA5528224STOX1c.1763A>G (p.Gln588Arg)
c.2099A>G (p.Gln700Arg)
c.463+3449A>G (n.463+3449A>G)
c.663+1100A>G (n.663+1100A>G)
c.1433A>G (p.Gln478Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.68885559A>TCA376881765STOX1c.1763A>T (p.Gln588Leu)
c.2099A>T (p.Gln700Leu)
c.463+3449A>T (n.463+3449A>T)
c.663+1100A>T (n.663+1100A>T)
c.1433A>T (p.Gln478Leu)
10g.68885560G>ACA470274075STOX1c.1764G>A (p.Gln588=)
c.2100G>A (p.Gln700=)
c.463+3450G>A (n.463+3450G>A)
c.663+1101G>A (n.663+1101G>A)
c.1434G>A (p.Gln478=)
10g.68885560G>CCA376881766STOX1c.1764G>C (p.Gln588His)
c.2100G>C (p.Gln700His)
c.463+3450G>C (n.463+3450G>C)
c.663+1101G>C (n.663+1101G>C)
c.1434G>C (p.Gln478His)
10g.68885560G=CA1917550037STOX1c.1764G= (p.Gln588=)
c.2100G= (p.Gln700=)
c.463+3450G= (n.463+3450G=)
c.663+1101G= (n.663+1101G=)
c.1434G= (p.Gln478=)
10g.68885560G>TCA5528225STOX1c.1764G>T (p.Gln588His)
c.2100G>T (p.Gln700His)
c.463+3450G>T (n.463+3450G>T)
c.663+1101G>T (n.663+1101G>T)
c.1434G>T (p.Gln478His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.68885561A>CCA376881767STOX1c.1765A>C (p.Ser589Arg)
c.2101A>C (p.Ser701Arg)
c.463+3451A>C (n.463+3451A>C)
c.663+1102A>C (n.663+1102A>C)
c.1435A>C (p.Ser479Arg)
10g.68885561A>GCA376881768STOX1c.1765A>G (p.Ser589Gly)
c.2101A>G (p.Ser701Gly)
c.463+3451A>G (n.463+3451A>G)
c.663+1102A>G (n.663+1102A>G)
c.1435A>G (p.Ser479Gly)
10g.68885561A>TCA376881769STOX1c.1765A>T (p.Ser589Cys)
c.2101A>T (p.Ser701Cys)
c.463+3451A>T (n.463+3451A>T)
c.663+1102A>T (n.663+1102A>T)
c.1435A>T (p.Ser479Cys)
10g.68885562G>ACA376881770STOX1c.1766G>A (p.Ser589Asn)
c.2102G>A (p.Ser701Asn)
c.463+3452G>A (n.463+3452G>A)
c.663+1103G>A (n.663+1103G>A)
c.1436G>A (p.Ser479Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.68885562G>CCA376881771STOX1c.1766G>C (p.Ser589Thr)
c.2102G>C (p.Ser701Thr)
c.463+3452G>C (n.463+3452G>C)
c.663+1103G>C (n.663+1103G>C)
c.1436G>C (p.Ser479Thr)
10g.68885562G=CA1917550038STOX1c.1766G= (p.Ser589=)
c.2102G= (p.Ser701=)
c.463+3452G= (n.463+3452G=)
c.663+1103G= (n.663+1103G=)
c.1436G= (p.Ser479=)
10g.68885562G>TCA376881772STOX1c.1766G>T (p.Ser589Ile)
c.2102G>T (p.Ser701Ile)
c.463+3452G>T (n.463+3452G>T)
c.663+1103G>T (n.663+1103G>T)
c.1436G>T (p.Ser479Ile)
10g.68885563C>ACA376881773STOX1c.1767C>A (p.Ser589Arg)
c.2103C>A (p.Ser701Arg)
c.463+3453C>A (n.463+3453C>A)
c.663+1104C>A (n.663+1104C>A)
c.1437C>A (p.Ser479Arg)
10g.68885563C>GCA376881774STOX1c.1767C>G (p.Ser589Arg)
c.2103C>G (p.Ser701Arg)
c.463+3453C>G (n.463+3453C>G)
c.663+1104C>G (n.663+1104C>G)
c.1437C>G (p.Ser479Arg)
10g.68885563C>TCA470274076STOX1c.1767C>T (p.Ser589=)
c.2103C>T (p.Ser701=)
c.463+3453C>T (n.463+3453C>T)
c.663+1104C>T (n.663+1104C>T)
c.1437C>T (p.Ser479=)
 gnomAD v4
10g.68885564A=CA1917550039STOX1c.1768A= (p.Met590=)
c.2104A= (p.Met702=)
c.463+3454A= (n.463+3454A=)
c.663+1105A= (n.663+1105A=)
c.1438A= (p.Met480=)
10g.68885564A>CCA376881775STOX1c.1768A>C (p.Met590Leu)
c.2104A>C (p.Met702Leu)
c.463+3454A>C (n.463+3454A>C)
c.663+1105A>C (n.663+1105A>C)
c.1438A>C (p.Met480Leu)
10g.68885564A>GCA5528226STOX1c.1768A>G (p.Met590Val)
c.2104A>G (p.Met702Val)
c.463+3454A>G (n.463+3454A>G)
c.663+1105A>G (n.663+1105A>G)
c.1438A>G (p.Met480Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.68885564A>TCA376881776STOX1c.1768A>T (p.Met590Leu)
c.2104A>T (p.Met702Leu)
c.463+3454A>T (n.463+3454A>T)
c.663+1105A>T (n.663+1105A>T)
c.1438A>T (p.Met480Leu)
10g.68885565T>ACA376881777STOX1c.1769T>A (p.Met590Lys)
c.2105T>A (p.Met702Lys)
c.463+3455T>A (n.463+3455T>A)
c.663+1106T>A (n.663+1106T>A)
c.1439T>A (p.Met480Lys)
10g.68885565T>CCA376881778STOX1c.1769T>C (p.Met590Thr)
c.2105T>C (p.Met702Thr)
c.463+3455T>C (n.463+3455T>C)
c.663+1106T>C (n.663+1106T>C)
c.1439T>C (p.Met480Thr)
 gnomAD v4
10g.68885565T>GCA376881779STOX1c.1769T>G (p.Met590Arg)
c.2105T>G (p.Met702Arg)
c.463+3455T>G (n.463+3455T>G)
c.663+1106T>G (n.663+1106T>G)
c.1439T>G (p.Met480Arg)
10g.68885566G>ACA376881781STOX1c.1770G>A (p.Met590Ile)
c.2106G>A (p.Met702Ile)
c.463+3456G>A (n.463+3456G>A)
c.663+1107G>A (n.663+1107G>A)
c.1440G>A (p.Met480Ile)
10g.68885566G>CCA376881782STOX1c.1770G>C (p.Met590Ile)
c.2106G>C (p.Met702Ile)
c.463+3456G>C (n.463+3456G>C)
c.663+1107G>C (n.663+1107G>C)
c.1440G>C (p.Met480Ile)
10g.68885566G>TCA376881780STOX1c.1770G>T (p.Met590Ile)
c.2106G>T (p.Met702Ile)
c.463+3456G>T (n.463+3456G>T)
c.663+1107G>T (n.663+1107G>T)
c.1440G>T (p.Met480Ile)
10g.68885567T>ACA376881784STOX1c.1771T>A (p.Leu591Met)
c.2107T>A (p.Leu703Met)
c.463+3457T>A (n.463+3457T>A)
c.663+1108T>A (n.663+1108T>A)
c.1441T>A (p.Leu481Met)
10g.68885567T>CCA470274077STOX1c.1771T>C (p.Leu591=)
c.2107T>C (p.Leu703=)
c.463+3457T>C (n.463+3457T>C)
c.663+1108T>C (n.663+1108T>C)
c.1441T>C (p.Leu481=)
10g.68885567T>GCA376881783STOX1c.1771T>G (p.Leu591Val)
c.2107T>G (p.Leu703Val)
c.463+3457T>G (n.463+3457T>G)
c.663+1108T>G (n.663+1108T>G)
c.1441T>G (p.Leu481Val)
10g.68885568T>ACA376881785STOX1c.1772T>A (p.Leu591Ter)
c.2108T>A (p.Leu703Ter)
c.463+3458T>A (n.463+3458T>A)
c.663+1109T>A (n.663+1109T>A)
c.1442T>A (p.Leu481Ter)
10g.68885568T>CCA376881786STOX1c.1772T>C (p.Leu591Ser)
c.2108T>C (p.Leu703Ser)
c.463+3458T>C (n.463+3458T>C)
c.663+1109T>C (n.663+1109T>C)
c.1442T>C (p.Leu481Ser)
10g.68885568T>GCA376881787STOX1c.1772T>G (p.Leu591Trp)
c.2108T>G (p.Leu703Trp)
c.463+3458T>G (n.463+3458T>G)
c.663+1109T>G (n.663+1109T>G)
c.1442T>G (p.Leu481Trp)
10g.68885569G>ACA5528227STOX1c.1773G>A (p.Leu591=)
c.2109G>A (p.Leu703=)
c.463+3459G>A (n.463+3459G>A)
c.663+1110G>A (n.663+1110G>A)
c.1443G>A (p.Leu481=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.68885569G>CCA376881788STOX1c.1773G>C (p.Leu591Phe)
c.2109G>C (p.Leu703Phe)
c.463+3459G>C (n.463+3459G>C)
c.663+1110G>C (n.663+1110G>C)
c.1443G>C (p.Leu481Phe)
 dbSNP gnomAD v2 gnomAD v4
10g.68885569G=CA1917550040STOX1c.1773G= (p.Leu591=)
c.2109G= (p.Leu703=)
c.463+3459G= (n.463+3459G=)
c.663+1110G= (n.663+1110G=)
c.1443G= (p.Leu481=)
10g.68885569G>TCA376881789STOX1c.1773G>T (p.Leu591Phe)
c.2109G>T (p.Leu703Phe)
c.463+3459G>T (n.463+3459G>T)
c.663+1110G>T (n.663+1110G>T)
c.1443G>T (p.Leu481Phe)
10g.68885570C>ACA376881791STOX1c.1774C>A (p.Gln592Lys)
c.2110C>A (p.Gln704Lys)
c.463+3460C>A (n.463+3460C>A)
c.663+1111C>A (n.663+1111C>A)
c.1444C>A (p.Gln482Lys)
10g.68885570C=CA1917550041STOX1c.1774C= (p.Gln592=)
c.2110C= (p.Gln704=)
c.463+3460C= (n.463+3460C=)
c.663+1111C= (n.663+1111C=)
c.1444C= (p.Gln482=)
10g.68885570C>GCA376881790STOX1c.1774C>G (p.Gln592Glu)
c.2110C>G (p.Gln704Glu)
c.463+3460C>G (n.463+3460C>G)
c.663+1111C>G (n.663+1111C>G)
c.1444C>G (p.Gln482Glu)
10g.68885570C>TCA208268228STOX1c.1774C>T (p.Gln592Ter)
c.2110C>T (p.Gln704Ter)
c.463+3460C>T (n.463+3460C>T)
c.663+1111C>T (n.663+1111C>T)
c.1444C>T (p.Gln482Ter)
 dbSNP
10g.68885571A>CCA376881792STOX1c.1775A>C (p.Gln592Pro)
c.2111A>C (p.Gln704Pro)
c.463+3461A>C (n.463+3461A>C)
c.663+1112A>C (n.663+1112A>C)
c.1445A>C (p.Gln482Pro)
10g.68885571A>GCA376881793STOX1c.1775A>G (p.Gln592Arg)
c.2111A>G (p.Gln704Arg)
c.463+3461A>G (n.463+3461A>G)
c.663+1112A>G (n.663+1112A>G)
c.1445A>G (p.Gln482Arg)
10g.68885571A>TCA376881794STOX1c.1775A>T (p.Gln592Leu)
c.2111A>T (p.Gln704Leu)
c.463+3461A>T (n.463+3461A>T)
c.663+1112A>T (n.663+1112A>T)
c.1445A>T (p.Gln482Leu)
10g.68885572A=CA1917550042STOX1c.1776A= (p.Gln592=)
c.2112A= (p.Gln704=)
c.463+3462A= (n.463+3462A=)
c.663+1113A= (n.663+1113A=)
c.1446A= (p.Gln482=)
10g.68885572A>CCA5528228STOX1c.1776A>C (p.Gln592His)
c.2112A>C (p.Gln704His)
c.463+3462A>C (n.463+3462A>C)
c.663+1113A>C (n.663+1113A>C)
c.1446A>C (p.Gln482His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.68885572A>GCA470274078STOX1c.1776A>G (p.Gln592=)
c.2112A>G (p.Gln704=)
c.463+3462A>G (n.463+3462A>G)
c.663+1113A>G (n.663+1113A>G)
c.1446A>G (p.Gln482=)
10g.68885572A>TCA376881795STOX1c.1776A>T (p.Gln592His)
c.2112A>T (p.Gln704His)
c.463+3462A>T (n.463+3462A>T)
c.663+1113A>T (n.663+1113A>T)
c.1446A>T (p.Gln482His)
10g.68885573A>CCA376881798STOX1c.1777A>C (p.Asn593His)
c.2113A>C (p.Asn705His)
c.463+3463A>C (n.463+3463A>C)
c.663+1114A>C (n.663+1114A>C)
c.1447A>C (p.Asn483His)
10g.68885573A>GCA376881796STOX1c.1777A>G (p.Asn593Asp)
c.2113A>G (p.Asn705Asp)
c.463+3463A>G (n.463+3463A>G)
c.663+1114A>G (n.663+1114A>G)
c.1447A>G (p.Asn483Asp)
10g.68885573A>TCA376881797STOX1c.1777A>T (p.Asn593Tyr)
c.2113A>T (p.Asn705Tyr)
c.463+3463A>T (n.463+3463A>T)
c.663+1114A>T (n.663+1114A>T)
c.1447A>T (p.Asn483Tyr)
10g.68885574A>CCA376881799STOX1c.1778A>C (p.Asn593Thr)
c.2114A>C (p.Asn705Thr)
c.463+3464A>C (n.463+3464A>C)
c.663+1115A>C (n.663+1115A>C)
c.1448A>C (p.Asn483Thr)
10g.68885574A>GCA376881800STOX1c.1778A>G (p.Asn593Ser)
c.2114A>G (p.Asn705Ser)
c.463+3464A>G (n.463+3464A>G)
c.663+1115A>G (n.663+1115A>G)
c.1448A>G (p.Asn483Ser)
10g.68885574A>TCA376881801STOX1c.1778A>T (p.Asn593Ile)
c.2114A>T (p.Asn705Ile)
c.463+3464A>T (n.463+3464A>T)
c.663+1115A>T (n.663+1115A>T)
c.1448A>T (p.Asn483Ile)
10g.68885575T>ACA376881802STOX1c.1779T>A (p.Asn593Lys)
c.2115T>A (p.Asn705Lys)
c.463+3465T>A (n.463+3465T>A)
c.663+1116T>A (n.663+1116T>A)
c.1449T>A (p.Asn483Lys)
10g.68885575T>CCA470274079STOX1c.1779T>C (p.Asn593=)
c.2115T>C (p.Asn705=)
c.463+3465T>C (n.463+3465T>C)
c.663+1116T>C (n.663+1116T>C)
c.1449T>C (p.Asn483=)
10g.68885575T>GCA376881803STOX1c.1779T>G (p.Asn593Lys)
c.2115T>G (p.Asn705Lys)
c.463+3465T>G (n.463+3465T>G)
c.663+1116T>G (n.663+1116T>G)
c.1449T>G (p.Asn483Lys)
10g.68885576G>ACA376881804STOX1c.1780G>A (p.Asp594Asn)
c.2116G>A (p.Asp706Asn)
c.463+3466G>A (n.463+3466G>A)
c.663+1117G>A (n.663+1117G>A)
c.1450G>A (p.Asp484Asn)
10g.68885576G>CCA376881805STOX1c.1780G>C (p.Asp594His)
c.2116G>C (p.Asp706His)
c.463+3466G>C (n.463+3466G>C)
c.663+1117G>C (n.663+1117G>C)
c.1450G>C (p.Asp484His)
 gnomAD v4
10g.68885576G>TCA376881806STOX1c.1780G>T (p.Asp594Tyr)
c.2116G>T (p.Asp706Tyr)
c.463+3466G>T (n.463+3466G>T)
c.663+1117G>T (n.663+1117G>T)
c.1450G>T (p.Asp484Tyr)
10g.68885577A>CCA376881807STOX1c.1781A>C (p.Asp594Ala)
c.2117A>C (p.Asp706Ala)
c.463+3467A>C (n.463+3467A>C)
c.663+1118A>C (n.663+1118A>C)
c.1451A>C (p.Asp484Ala)
10g.68885577A>GCA376881808STOX1c.1781A>G (p.Asp594Gly)
c.2117A>G (p.Asp706Gly)
c.463+3467A>G (n.463+3467A>G)
c.663+1118A>G (n.663+1118A>G)
c.1451A>G (p.Asp484Gly)
10g.68885577A>TCA376881809STOX1c.1781A>T (p.Asp594Val)
c.2117A>T (p.Asp706Val)
c.463+3467A>T (n.463+3467A>T)
c.663+1118A>T (n.663+1118A>T)
c.1451A>T (p.Asp484Val)
10g.68885578T>ACA376881810STOX1c.1782T>A (p.Asp594Glu)
c.2118T>A (p.Asp706Glu)
c.463+3468T>A (n.463+3468T>A)
c.663+1119T>A (n.663+1119T>A)
c.1452T>A (p.Asp484Glu)
10g.68885578T>CCA470274080STOX1c.1782T>C (p.Asp594=)
c.2118T>C (p.Asp706=)
c.463+3468T>C (n.463+3468T>C)
c.663+1119T>C (n.663+1119T>C)
c.1452T>C (p.Asp484=)
10g.68885578T>GCA376881811STOX1c.1782T>G (p.Asp594Glu)
c.2118T>G (p.Asp706Glu)
c.463+3468T>G (n.463+3468T>G)
c.663+1119T>G (n.663+1119T>G)
c.1452T>G (p.Asp484Glu)
10g.68885579G>ACA376881812STOX1c.1783G>A (p.Gly595Ser)
c.2119G>A (p.Gly707Ser)
c.463+3469G>A (n.463+3469G>A)
c.663+1120G>A (n.663+1120G>A)
c.1453G>A (p.Gly485Ser)
 dbSNP gnomAD v2 gnomAD v4
10g.68885579G>CCA376881814STOX1c.1783G>C (p.Gly595Arg)
c.2119G>C (p.Gly707Arg)
c.463+3469G>C (n.463+3469G>C)
c.663+1120G>C (n.663+1120G>C)
c.1453G>C (p.Gly485Arg)
10g.68885579G=CA1917550043STOX1c.1783G= (p.Gly595=)
c.2119G= (p.Gly707=)
c.463+3469G= (n.463+3469G=)
c.663+1120G= (n.663+1120G=)
c.1453G= (p.Gly485=)
10g.68885579G>TCA376881813STOX1c.1783G>T (p.Gly595Cys)
c.2119G>T (p.Gly707Cys)
c.463+3469G>T (n.463+3469G>T)
c.663+1120G>T (n.663+1120G>T)
c.1453G>T (p.Gly485Cys)
10g.68885580G>ACA376881815STOX1c.1784G>A (p.Gly595Asp)
c.2120G>A (p.Gly707Asp)
c.463+3470G>A (n.463+3470G>A)
c.663+1121G>A (n.663+1121G>A)
c.1454G>A (p.Gly485Asp)
10g.68885580G>CCA376881816STOX1c.1784G>C (p.Gly595Ala)
c.2120G>C (p.Gly707Ala)
c.463+3470G>C (n.463+3470G>C)
c.663+1121G>C (n.663+1121G>C)
c.1454G>C (p.Gly485Ala)
10g.68885580G>TCA376881817STOX1c.1784G>T (p.Gly595Val)
c.2120G>T (p.Gly707Val)
c.463+3470G>T (n.463+3470G>T)
c.663+1121G>T (n.663+1121G>T)
c.1454G>T (p.Gly485Val)
10g.68885581T>ACA470274081STOX1c.1785T>A (p.Gly595=)
c.2121T>A (p.Gly707=)
c.463+3471T>A (n.463+3471T>A)
c.663+1122T>A (n.663+1122T>A)
c.1455T>A (p.Gly485=)
10g.68885581T>CCA470274082STOX1c.1785T>C (p.Gly595=)
c.2121T>C (p.Gly707=)
c.463+3471T>C (n.463+3471T>C)
c.663+1122T>C (n.663+1122T>C)
c.1455T>C (p.Gly485=)
10g.68885581T>GCA470274083STOX1c.1785T>G (p.Gly595=)
c.2121T>G (p.Gly707=)
c.463+3471T>G (n.463+3471T>G)
c.663+1122T>G (n.663+1122T>G)
c.1455T>G (p.Gly485=)
10g.68885582A>CCA376881818STOX1c.1786A>C (p.Lys596Gln)
c.2122A>C (p.Lys708Gln)
c.463+3472A>C (n.463+3472A>C)
c.663+1123A>C (n.663+1123A>C)
c.1456A>C (p.Lys486Gln)
10g.68885582A>GCA376881819STOX1c.1786A>G (p.Lys596Glu)
c.2122A>G (p.Lys708Glu)
c.463+3472A>G (n.463+3472A>G)
c.663+1123A>G (n.663+1123A>G)
c.1456A>G (p.Lys486Glu)
10g.68885582A>TCA376881820STOX1c.1786A>T (p.Lys596Ter)
c.2122A>T (p.Lys708Ter)
c.463+3472A>T (n.463+3472A>T)
c.663+1123A>T (n.663+1123A>T)
c.1456A>T (p.Lys486Ter)
10g.68885583A>CCA376881823STOX1c.1787A>C (p.Lys596Thr)
c.2123A>C (p.Lys708Thr)
c.463+3473A>C (n.463+3473A>C)
c.663+1124A>C (n.663+1124A>C)
c.1457A>C (p.Lys486Thr)
10g.68885583A>GCA376881821STOX1c.1787A>G (p.Lys596Arg)
c.2123A>G (p.Lys708Arg)
c.463+3473A>G (n.463+3473A>G)
c.663+1124A>G (n.663+1124A>G)
c.1457A>G (p.Lys486Arg)
10g.68885583A>TCA376881822STOX1c.1787A>T (p.Lys596Ile)
c.2123A>T (p.Lys708Ile)
c.463+3473A>T (n.463+3473A>T)
c.663+1124A>T (n.663+1124A>T)
c.1457A>T (p.Lys486Ile)
10g.68885584A=CA1917550044STOX1c.1788A= (p.Lys596=)
c.2124A= (p.Lys708=)
c.463+3474A= (n.463+3474A=)
c.663+1125A= (n.663+1125A=)
c.1458A= (p.Lys486=)
10g.68885584A>CCA376881824STOX1c.1788A>C (p.Lys596Asn)
c.2124A>C (p.Lys708Asn)
c.463+3474A>C (n.463+3474A>C)
c.663+1125A>C (n.663+1125A>C)
c.1458A>C (p.Lys486Asn)
10g.68885584A>GCA470274084STOX1c.1788A>G (p.Lys596=)
c.2124A>G (p.Lys708=)
c.463+3474A>G (n.463+3474A>G)
c.663+1125A>G (n.663+1125A>G)
c.1458A>G (p.Lys486=)
10g.68885584A>TCA208268253STOX1c.1788A>T (p.Lys596Asn)
c.2124A>T (p.Lys708Asn)
c.463+3474A>T (n.463+3474A>T)
c.663+1125A>T (n.663+1125A>T)
c.1458A>T (p.Lys486Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.68885585T>ACA376881825STOX1c.1789T>A (p.Cys597Ser)
c.2125T>A (p.Cys709Ser)
c.463+3475T>A (n.463+3475T>A)
c.663+1126T>A (n.663+1126T>A)
c.1459T>A (p.Cys487Ser)
10g.68885585T>CCA376881826STOX1c.1789T>C (p.Cys597Arg)
c.2125T>C (p.Cys709Arg)
c.463+3475T>C (n.463+3475T>C)
c.663+1126T>C (n.663+1126T>C)
c.1459T>C (p.Cys487Arg)
10g.68885585T>GCA376881827STOX1c.1789T>G (p.Cys597Gly)
c.2125T>G (p.Cys709Gly)
c.463+3475T>G (n.463+3475T>G)
c.663+1126T>G (n.663+1126T>G)
c.1459T>G (p.Cys487Gly)
10g.68885586G>ACA376881828STOX1c.1790G>A (p.Cys597Tyr)
c.2126G>A (p.Cys709Tyr)
c.463+3476G>A (n.463+3476G>A)
c.663+1127G>A (n.663+1127G>A)
c.1460G>A (p.Cys487Tyr)
 gnomAD v4
10g.68885586G>CCA376881830STOX1c.1790G>C (p.Cys597Ser)
c.2126G>C (p.Cys709Ser)
c.463+3476G>C (n.463+3476G>C)
c.663+1127G>C (n.663+1127G>C)
c.1460G>C (p.Cys487Ser)
 dbSNP gnomAD v2 gnomAD v4
10g.68885586G=CA1917550045STOX1c.1790G= (p.Cys597=)
c.2126G= (p.Cys709=)
c.463+3476G= (n.463+3476G=)
c.663+1127G= (n.663+1127G=)
c.1460G= (p.Cys487=)
10g.68885586G>TCA376881829STOX1c.1790G>T (p.Cys597Phe)
c.2126G>T (p.Cys709Phe)
c.463+3476G>T (n.463+3476G>T)
c.663+1127G>T (n.663+1127G>T)
c.1460G>T (p.Cys487Phe)
10g.68885587C>ACA376881831STOX1c.1791C>A (p.Cys597Ter)
c.2127C>A (p.Cys709Ter)
c.463+3477C>A (n.463+3477C>A)
c.663+1128C>A (n.663+1128C>A)
c.1461C>A (p.Cys487Ter)
10g.68885587C>GCA376881832STOX1c.1791C>G (p.Cys597Trp)
c.2127C>G (p.Cys709Trp)
c.463+3477C>G (n.463+3477C>G)
c.663+1128C>G (n.663+1128C>G)
c.1461C>G (p.Cys487Trp)
10g.68885587C>TCA470274085STOX1c.1791C>T (p.Cys597=)
c.2127C>T (p.Cys709=)
c.463+3477C>T (n.463+3477C>T)
c.663+1128C>T (n.663+1128C>T)
c.1461C>T (p.Cys487=)
10g.68885588T>ACA5528229STOX1c.1792T>A (p.Cys598Ser)
c.2128T>A (p.Cys710Ser)
c.463+3478T>A (n.463+3478T>A)
c.663+1129T>A (n.663+1129T>A)
c.1462T>A (p.Cys488Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.68885588T>CCA376881833STOX1c.1792T>C (p.Cys598Arg)
c.2128T>C (p.Cys710Arg)
c.463+3478T>C (n.463+3478T>C)
c.663+1129T>C (n.663+1129T>C)
c.1462T>C (p.Cys488Arg)
10g.68885588T>GCA376881834STOX1c.1792T>G (p.Cys598Gly)
c.2128T>G (p.Cys710Gly)
c.463+3478T>G (n.463+3478T>G)
c.663+1129T>G (n.663+1129T>G)
c.1462T>G (p.Cys488Gly)
10g.68885588T=CA1917550046STOX1c.1792T= (p.Cys598=)
c.2128T= (p.Cys710=)
c.463+3478T= (n.463+3478T=)
c.663+1129T= (n.663+1129T=)
c.1462T= (p.Cys488=)
10g.68885589G>ACA376881835STOX1c.1793G>A (p.Cys598Tyr)
c.2129G>A (p.Cys710Tyr)
c.463+3479G>A (n.463+3479G>A)
c.663+1130G>A (n.663+1130G>A)
c.1463G>A (p.Cys488Tyr)
10g.68885589G>CCA376881836STOX1c.1793G>C (p.Cys598Ser)
c.2129G>C (p.Cys710Ser)
c.463+3479G>C (n.463+3479G>C)
c.663+1130G>C (n.663+1130G>C)
c.1463G>C (p.Cys488Ser)
 dbSNP gnomAD v4
10g.68885589G=CA1917550047STOX1c.1793G= (p.Cys598=)
c.2129G= (p.Cys710=)
c.463+3479G= (n.463+3479G=)
c.663+1130G= (n.663+1130G=)
c.1463G= (p.Cys488=)
10g.68885589G>TCA376881837STOX1c.1793G>T (p.Cys598Phe)
c.2129G>T (p.Cys710Phe)
c.463+3479G>T (n.463+3479G>T)
c.663+1130G>T (n.663+1130G>T)
c.1463G>T (p.Cys488Phe)
10g.68885590T>ACA376881838STOX1c.1794T>A (p.Cys598Ter)
c.2130T>A (p.Cys710Ter)
c.463+3480T>A (n.463+3480T>A)
c.663+1131T>A (n.663+1131T>A)
c.1464T>A (p.Cys488Ter)
10g.68885590T>CCA5528230STOX1c.1794T>C (p.Cys598=)
c.2130T>C (p.Cys710=)
c.463+3480T>C (n.463+3480T>C)
c.663+1131T>C (n.663+1131T>C)
c.1464T>C (p.Cys488=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.68885590T>GCA376881839STOX1c.1794T>G (p.Cys598Trp)
c.2130T>G (p.Cys710Trp)
c.463+3480T>G (n.463+3480T>G)
c.663+1131T>G (n.663+1131T>G)
c.1464T>G (p.Cys488Trp)
10g.68885590T=CA1917550048STOX1c.1794T= (p.Cys598=)
c.2130T= (p.Cys710=)
c.463+3480T= (n.463+3480T=)
c.663+1131T= (n.663+1131T=)
c.1464T= (p.Cys488=)
10g.68885591C>ACA376881840STOX1c.1795C>A (p.Pro599Thr)
c.2131C>A (p.Pro711Thr)
c.463+3481C>A (n.463+3481C>A)
c.663+1132C>A (n.663+1132C>A)
c.1465C>A (p.Pro489Thr)
10g.68885591C=CA1917550049STOX1c.1795C= (p.Pro599=)
c.2131C= (p.Pro711=)
c.463+3481C= (n.463+3481C=)
c.663+1132C= (n.663+1132C=)
c.1465C= (p.Pro489=)
10g.68885591C>GCA376881842STOX1c.1795C>G (p.Pro599Ala)
c.2131C>G (p.Pro711Ala)
c.463+3481C>G (n.463+3481C>G)
c.663+1132C>G (n.663+1132C>G)
c.1465C>G (p.Pro489Ala)
10g.68885591C>TCA376881841STOX1c.1795C>T (p.Pro599Ser)
c.2131C>T (p.Pro711Ser)
c.463+3481C>T (n.463+3481C>T)
c.663+1132C>T (n.663+1132C>T)
c.1465C>T (p.Pro489Ser)
 dbSNP gnomAD v3 gnomAD v4
10g.68885592C>ACA376881843STOX1c.1796C>A (p.Pro599His)
c.2132C>A (p.Pro711His)
c.463+3482C>A (n.463+3482C>A)
c.663+1133C>A (n.663+1133C>A)
c.1466C>A (p.Pro489His)
10g.68885592C>GCA376881844STOX1c.1796C>G (p.Pro599Arg)
c.2132C>G (p.Pro711Arg)
c.463+3482C>G (n.463+3482C>G)
c.663+1133C>G (n.663+1133C>G)
c.1466C>G (p.Pro489Arg)
10g.68885592C>TCA376881845STOX1c.1796C>T (p.Pro599Leu)
c.2132C>T (p.Pro711Leu)
c.463+3482C>T (n.463+3482C>T)
c.663+1133C>T (n.663+1133C>T)
c.1466C>T (p.Pro489Leu)
 gnomAD v4
10g.68885593C>ACA470274086STOX1c.1797C>A (p.Pro599=)
c.2133C>A (p.Pro711=)
c.463+3483C>A (n.463+3483C>A)
c.663+1134C>A (n.663+1134C>A)
c.1467C>A (p.Pro489=)
 dbSNP gnomAD v3 gnomAD v4
10g.68885593C=CA1917550050STOX1c.1797C= (p.Pro599=)
c.2133C= (p.Pro711=)
c.463+3483C= (n.463+3483C=)
c.663+1134C= (n.663+1134C=)
c.1467C= (p.Pro489=)
10g.68885593C>GCA208268281STOX1c.1797C>G (p.Pro599=)
c.2133C>G (p.Pro711=)
c.463+3483C>G (n.463+3483C>G)
c.663+1134C>G (n.663+1134C>G)
c.1467C>G (p.Pro489=)
 dbSNP gnomAD v4
10g.68885593C>TCA5528231STOX1c.1797C>T (p.Pro599=)
c.2133C>T (p.Pro711=)
c.463+3483C>T (n.463+3483C>T)
c.663+1134C>T (n.663+1134C>T)
c.1467C>T (p.Pro489=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.68885594T>ACA376881846STOX1c.1798T>A (p.Phe600Ile)
c.2134T>A (p.Phe712Ile)
c.463+3484T>A (n.463+3484T>A)
c.663+1135T>A (n.663+1135T>A)
c.1468T>A (p.Phe490Ile)
10g.68885594T>CCA376881847STOX1c.1798T>C (p.Phe600Leu)
c.2134T>C (p.Phe712Leu)
c.463+3484T>C (n.463+3484T>C)
c.663+1135T>C (n.663+1135T>C)
c.1468T>C (p.Phe490Leu)
10g.68885594T>GCA376881848STOX1c.1798T>G (p.Phe600Val)
c.2134T>G (p.Phe712Val)
c.463+3484T>G (n.463+3484T>G)
c.663+1135T>G (n.663+1135T>G)
c.1468T>G (p.Phe490Val)
10g.68885595T>ACA376881849STOX1c.1799T>A (p.Phe600Tyr)
c.2135T>A (p.Phe712Tyr)
c.463+3485T>A (n.463+3485T>A)
c.663+1136T>A (n.663+1136T>A)
c.1469T>A (p.Phe490Tyr)
10g.68885595T>CCA376881850STOX1c.1799T>C (p.Phe600Ser)
c.2135T>C (p.Phe712Ser)
c.463+3485T>C (n.463+3485T>C)
c.663+1136T>C (n.663+1136T>C)
c.1469T>C (p.Phe490Ser)
10g.68885595T>GCA5528232STOX1c.1799T>G (p.Phe600Cys)
c.2135T>G (p.Phe712Cys)
c.463+3485T>G (n.463+3485T>G)
c.663+1136T>G (n.663+1136T>G)
c.1469T>G (p.Phe490Cys)
 dbSNP ExAC
10g.68885595T=CA1917550051STOX1c.1799T= (p.Phe600=)
c.2135T= (p.Phe712=)
c.463+3485T= (n.463+3485T=)
c.663+1136T= (n.663+1136T=)
c.1469T= (p.Phe490=)
10g.68885596T>ACA376881851STOX1c.1800T>A (p.Phe600Leu)
c.2136T>A (p.Phe712Leu)
c.463+3486T>A (n.463+3486T>A)
c.663+1137T>A (n.663+1137T>A)
c.1470T>A (p.Phe490Leu)
10g.68885596T>CCA470274087STOX1c.1800T>C (p.Phe600=)
c.2136T>C (p.Phe712=)
c.463+3486T>C (n.463+3486T>C)
c.663+1137T>C (n.663+1137T>C)
c.1470T>C (p.Phe490=)
10g.68885596T>GCA376881852STOX1c.1800T>G (p.Phe600Leu)
c.2136T>G (p.Phe712Leu)
c.463+3486T>G (n.463+3486T>G)
c.663+1137T>G (n.663+1137T>G)
c.1470T>G (p.Phe490Leu)
10g.68885597A=CA1917550052STOX1c.1801A= (p.Met601=)
c.2137A= (p.Met713=)
c.463+3487A= (n.463+3487A=)
c.663+1138A= (n.663+1138A=)
c.1471A= (p.Met491=)
10g.68885597A>CCA376881855STOX1c.1801A>C (p.Met601Leu)
c.2137A>C (p.Met713Leu)
c.463+3487A>C (n.463+3487A>C)
c.663+1138A>C (n.663+1138A>C)
c.1471A>C (p.Met491Leu)
10g.68885597A>GCA376881854STOX1c.1801A>G (p.Met601Val)
c.2137A>G (p.Met713Val)
c.463+3487A>G (n.463+3487A>G)
c.663+1138A>G (n.663+1138A>G)
c.1471A>G (p.Met491Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.68885597A>TCA376881853STOX1c.1801A>T (p.Met601Leu)
c.2137A>T (p.Met713Leu)
c.463+3487A>T (n.463+3487A>T)
c.663+1138A>T (n.663+1138A>T)
c.1471A>T (p.Met491Leu)
10g.68885598T>ACA376881856STOX1c.1802T>A (p.Met601Lys)
c.2138T>A (p.Met713Lys)
c.463+3488T>A (n.463+3488T>A)
c.663+1139T>A (n.663+1139T>A)
c.1472T>A (p.Met491Lys)
10g.68885598T>CCA376881857STOX1c.1802T>C (p.Met601Thr)
c.2138T>C (p.Met713Thr)
c.463+3488T>C (n.463+3488T>C)
c.663+1139T>C (n.663+1139T>C)
c.1472T>C (p.Met491Thr)
10g.68885598T>GCA376881858STOX1c.1802T>G (p.Met601Arg)
c.2138T>G (p.Met713Arg)
c.463+3488T>G (n.463+3488T>G)
c.663+1139T>G (n.663+1139T>G)
c.1472T>G (p.Met491Arg)
10g.68885599G>ACA376881859STOX1c.1803G>A (p.Met601Ile)
c.2139G>A (p.Met713Ile)
c.463+3489G>A (n.463+3489G>A)
c.663+1140G>A (n.663+1140G>A)
c.1473G>A (p.Met491Ile)
10g.68885599G>CCA376881860STOX1c.1803G>C (p.Met601Ile)
c.2139G>C (p.Met713Ile)
c.463+3489G>C (n.463+3489G>C)
c.663+1140G>C (n.663+1140G>C)
c.1473G>C (p.Met491Ile)
10g.68885599G=CA1917550053STOX1c.1803G= (p.Met601=)
c.2139G= (p.Met713=)
c.463+3489G= (n.463+3489G=)
c.663+1140G= (n.663+1140G=)
c.1473G= (p.Met491=)
10g.68885599G>TCA5528233STOX1c.1803G>T (p.Met601Ile)
c.2139G>T (p.Met713Ile)
c.463+3489G>T (n.463+3489G>T)
c.663+1140G>T (n.663+1140G>T)
c.1473G>T (p.Met491Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.68885600G>ACA376881861STOX1c.1804G>A (p.Glu602Lys)
c.2140G>A (p.Glu714Lys)
c.463+3490G>A (n.463+3490G>A)
c.663+1141G>A (n.663+1141G>A)
c.1474G>A (p.Glu492Lys)
10g.68885600G>CCA376881862STOX1c.1804G>C (p.Glu602Gln)
c.2140G>C (p.Glu714Gln)
c.463+3490G>C (n.463+3490G>C)
c.663+1141G>C (n.663+1141G>C)
c.1474G>C (p.Glu492Gln)
10g.68885600G>TCA376881863STOX1c.1804G>T (p.Glu602Ter)
c.2140G>T (p.Glu714Ter)
c.463+3490G>T (n.463+3490G>T)
c.663+1141G>T (n.663+1141G>T)
c.1474G>T (p.Glu492Ter)
10g.68885601A>CCA376881864STOX1c.1805A>C (p.Glu602Ala)
c.2141A>C (p.Glu714Ala)
c.463+3491A>C (n.463+3491A>C)
c.663+1142A>C (n.663+1142A>C)
c.1475A>C (p.Glu492Ala)
10g.68885601A>GCA376881865STOX1c.1805A>G (p.Glu602Gly)
c.2141A>G (p.Glu714Gly)
c.463+3491A>G (n.463+3491A>G)
c.663+1142A>G (n.663+1142A>G)
c.1475A>G (p.Glu492Gly)
10g.68885601A>TCA376881866STOX1c.1805A>T (p.Glu602Val)
c.2141A>T (p.Glu714Val)
c.463+3491A>T (n.463+3491A>T)
c.663+1142A>T (n.663+1142A>T)
c.1475A>T (p.Glu492Val)
10g.68885602A>CCA376881867STOX1c.1806A>C (p.Glu602Asp)
c.2142A>C (p.Glu714Asp)
c.463+3492A>C (n.463+3492A>C)
c.663+1143A>C (n.663+1143A>C)
c.1476A>C (p.Glu492Asp)
10g.68885602A>GCA470274088STOX1c.1806A>G (p.Glu602=)
c.2142A>G (p.Glu714=)
c.463+3492A>G (n.463+3492A>G)
c.663+1143A>G (n.663+1143A>G)
c.1476A>G (p.Glu492=)
10g.68885602A>TCA376881868STOX1c.1806A>T (p.Glu602Asp)
c.2142A>T (p.Glu714Asp)
c.463+3492A>T (n.463+3492A>T)
c.663+1143A>T (n.663+1143A>T)
c.1476A>T (p.Glu492Asp)
10g.68885603A>CCA376881870STOX1c.1807A>C (p.Ser603Arg)
c.2143A>C (p.Ser715Arg)
c.463+3493A>C (n.463+3493A>C)
c.663+1144A>C (n.663+1144A>C)
c.1477A>C (p.Ser493Arg)
10g.68885603A>GCA376881871STOX1c.1807A>G (p.Ser603Gly)
c.2143A>G (p.Ser715Gly)
c.463+3493A>G (n.463+3493A>G)
c.663+1144A>G (n.663+1144A>G)
c.1477A>G (p.Ser493Gly)
10g.68885603A>TCA376881869STOX1c.1807A>T (p.Ser603Cys)
c.2143A>T (p.Ser715Cys)
c.463+3493A>T (n.463+3493A>T)
c.663+1144A>T (n.663+1144A>T)
c.1477A>T (p.Ser493Cys)
10g.68885604G>ACA5528234STOX1c.1808G>A (p.Ser603Asn)
c.2144G>A (p.Ser715Asn)
c.463+3494G>A (n.463+3494G>A)
c.663+1145G>A (n.663+1145G>A)
c.1478G>A (p.Ser493Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.68885604G>CCA376881872STOX1c.1808G>C (p.Ser603Thr)
c.2144G>C (p.Ser715Thr)
c.463+3494G>C (n.463+3494G>C)
c.663+1145G>C (n.663+1145G>C)
c.1478G>C (p.Ser493Thr)
10g.68885604G=CA1917550054STOX1c.1808G= (p.Ser603=)
c.2144G= (p.Ser715=)
c.463+3494G= (n.463+3494G=)
c.663+1145G= (n.663+1145G=)
c.1478G= (p.Ser493=)
10g.68885604G>TCA376881873STOX1c.1808G>T (p.Ser603Ile)
c.2144G>T (p.Ser715Ile)
c.463+3494G>T (n.463+3494G>T)
c.663+1145G>T (n.663+1145G>T)
c.1478G>T (p.Ser493Ile)
 dbSNP
10g.68885605C>ACA376881874STOX1c.1809C>A (p.Ser603Arg)
c.2145C>A (p.Ser715Arg)
c.463+3495C>A (n.463+3495C>A)
c.663+1146C>A (n.663+1146C>A)
c.1479C>A (p.Ser493Arg)
10g.68885605C>GCA376881875STOX1c.1809C>G (p.Ser603Arg)
c.2145C>G (p.Ser715Arg)
c.463+3495C>G (n.463+3495C>G)
c.663+1146C>G (n.663+1146C>G)
c.1479C>G (p.Ser493Arg)
10g.68885605C>TCA470274089STOX1c.1809C>T (p.Ser603=)
c.2145C>T (p.Ser715=)
c.463+3495C>T (n.463+3495C>T)
c.663+1146C>T (n.663+1146C>T)
c.1479C>T (p.Ser493=)
 gnomAD v4
10g.68885606A>CCA376881876STOX1c.1810A>C (p.Met604Leu)
c.2146A>C (p.Met716Leu)
c.463+3496A>C (n.463+3496A>C)
c.663+1147A>C (n.663+1147A>C)
c.1480A>C (p.Met494Leu)
10g.68885606A>GCA376881877STOX1c.1810A>G (p.Met604Val)
c.2146A>G (p.Met716Val)
c.463+3496A>G (n.463+3496A>G)
c.663+1147A>G (n.663+1147A>G)
c.1480A>G (p.Met494Val)
 gnomAD v4
10g.68885606A>TCA376881878STOX1c.1810A>T (p.Met604Leu)
c.2146A>T (p.Met716Leu)
c.463+3496A>T (n.463+3496A>T)
c.663+1147A>T (n.663+1147A>T)
c.1480A>T (p.Met494Leu)
10g.68885607T>ACA376881879STOX1c.1811T>A (p.Met604Lys)
c.2147T>A (p.Met716Lys)
c.463+3497T>A (n.463+3497T>A)
c.663+1148T>A (n.663+1148T>A)
c.1481T>A (p.Met494Lys)
10g.68885607T>CCA376881880STOX1c.1811T>C (p.Met604Thr)
c.2147T>C (p.Met716Thr)
c.463+3497T>C (n.463+3497T>C)
c.663+1148T>C (n.663+1148T>C)
c.1481T>C (p.Met494Thr)
10g.68885607T>GCA376881881STOX1c.1811T>G (p.Met604Arg)
c.2147T>G (p.Met716Arg)
c.463+3497T>G (n.463+3497T>G)
c.663+1148T>G (n.663+1148T>G)
c.1481T>G (p.Met494Arg)
10g.68885608G>ACA376881884STOX1c.1812G>A (p.Met604Ile)
c.2148G>A (p.Met716Ile)
c.463+3498G>A (n.463+3498G>A)
c.663+1149G>A (n.663+1149G>A)
c.1482G>A (p.Met494Ile)
10g.68885608G>CCA376881883STOX1c.1812G>C (p.Met604Ile)
c.2148G>C (p.Met716Ile)
c.463+3498G>C (n.463+3498G>C)
c.663+1149G>C (n.663+1149G>C)
c.1482G>C (p.Met494Ile)
10g.68885608G>TCA376881882STOX1c.1812G>T (p.Met604Ile)
c.2148G>T (p.Met716Ile)
c.463+3498G>T (n.463+3498G>T)
c.663+1149G>T (n.663+1149G>T)
c.1482G>T (p.Met494Ile)
10g.68885609T>ACA376881885STOX1c.1813T>A (p.Leu605Met)
c.2149T>A (p.Leu717Met)
c.463+3499T>A (n.463+3499T>A)
c.663+1150T>A (n.663+1150T>A)
c.1483T>A (p.Leu495Met)
10g.68885609T>CCA470274090STOX1c.1813T>C (p.Leu605=)
c.2149T>C (p.Leu717=)
c.463+3499T>C (n.463+3499T>C)
c.663+1150T>C (n.663+1150T>C)
c.1483T>C (p.Leu495=)
10g.68885609T>GCA376881886STOX1c.1813T>G (p.Leu605Val)
c.2149T>G (p.Leu717Val)
c.463+3499T>G (n.463+3499T>G)
c.663+1150T>G (n.663+1150T>G)
c.1483T>G (p.Leu495Val)
 gnomAD v4
10g.68885610T>ACA376881887STOX1c.1814T>A (p.Leu605Ter)
c.2150T>A (p.Leu717Ter)
c.463+3500T>A (n.463+3500T>A)
c.663+1151T>A (n.663+1151T>A)
c.1484T>A (p.Leu495Ter)
10g.68885610T>CCA376881888STOX1c.1814T>C (p.Leu605Ser)
c.2150T>C (p.Leu717Ser)
c.463+3500T>C (n.463+3500T>C)
c.663+1151T>C (n.663+1151T>C)
c.1484T>C (p.Leu495Ser)
10g.68885610T>GCA5528235STOX1c.1814T>G (p.Leu605Trp)
c.2150T>G (p.Leu717Trp)
c.463+3500T>G (n.463+3500T>G)
c.663+1151T>G (n.663+1151T>G)
c.1484T>G (p.Leu495Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.68885610T=CA1917550055STOX1c.1814T= (p.Leu605=)
c.2150T= (p.Leu717=)
c.463+3500T= (n.463+3500T=)
c.663+1151T= (n.663+1151T=)
c.1484T= (p.Leu495=)
10g.68885611G>ACA470274091STOX1c.1815G>A (p.Leu605=)
c.2151G>A (p.Leu717=)
c.463+3501G>A (n.463+3501G>A)
c.663+1152G>A (n.663+1152G>A)
c.1485G>A (p.Leu495=)
10g.68885611G>CCA376881889STOX1c.1815G>C (p.Leu605Phe)
c.2151G>C (p.Leu717Phe)
c.463+3501G>C (n.463+3501G>C)
c.663+1152G>C (n.663+1152G>C)
c.1485G>C (p.Leu495Phe)
10g.68885611G>TCA376881890STOX1c.1815G>T (p.Leu605Phe)
c.2151G>T (p.Leu717Phe)
c.463+3501G>T (n.463+3501G>T)
c.663+1152G>T (n.663+1152G>T)
c.1485G>T (p.Leu495Phe)
10g.68885611_68885612delinsGACA1917550056STOX1c.1815_1816delinsGA (p.Leu605=)
c.2151_2152delinsGA (p.Leu717=)
c.463+3501_463+3502delinsGA (n.463+3501_463+3502delinsGA)
c.663+1152_663+1153delinsGA (n.663+1152_663+1153delinsGA)
c.1485_1486delinsGA (p.Leu495=)
10g.68885612delCA5528236STOX1c.1816del (p.Arg606AspfsTer11)
c.2152del (p.Arg718AspfsTer11)
c.463+3502del (n.463+3502del)
c.663+1153del (n.663+1153del)
c.1486del (p.Arg496AspfsTer11)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.68885612A>CCA470274092STOX1c.1816A>C (p.Arg606=)
c.2152A>C (p.Arg718=)
c.463+3502A>C (n.463+3502A>C)
c.663+1153A>C (n.663+1153A>C)
c.1486A>C (p.Arg496=)
10g.68885612A>GCA376881891STOX1c.1816A>G (p.Arg606Gly)
c.2152A>G (p.Arg718Gly)
c.463+3502A>G (n.463+3502A>G)
c.663+1153A>G (n.663+1153A>G)
c.1486A>G (p.Arg496Gly)
 gnomAD v4
10g.68885612A>TCA376881892STOX1c.1816A>T (p.Arg606Ter)
c.2152A>T (p.Arg718Ter)
c.463+3502A>T (n.463+3502A>T)
c.663+1153A>T (n.663+1153A>T)
c.1486A>T (p.Arg496Ter)
10g.68885613G>ACA376881893STOX1c.1817G>A (p.Arg606Lys)
c.2153G>A (p.Arg718Lys)
c.463+3503G>A (n.463+3503G>A)
c.663+1154G>A (n.663+1154G>A)
c.1487G>A (p.Arg496Lys)
 gnomAD v4
10g.68885613G>CCA376881894STOX1c.1817G>C (p.Arg606Thr)
c.2153G>C (p.Arg718Thr)
c.463+3503G>C (n.463+3503G>C)
c.663+1154G>C (n.663+1154G>C)
c.1487G>C (p.Arg496Thr)
10g.68885613G>TCA376881895STOX1c.1817G>T (p.Arg606Ile)
c.2153G>T (p.Arg718Ile)
c.463+3503G>T (n.463+3503G>T)
c.663+1154G>T (n.663+1154G>T)
c.1487G>T (p.Arg496Ile)
 COSMIC
10g.68885614A=CA1917550057STOX1c.1818A= (p.Arg606=)
c.2154A= (p.Arg718=)
c.463+3504A= (n.463+3504A=)
c.663+1155A= (n.663+1155A=)
c.1488A= (p.Arg496=)
10g.68885614A>CCA376881897STOX1c.1818A>C (p.Arg606Ser)
c.2154A>C (p.Arg718Ser)
c.463+3504A>C (n.463+3504A>C)
c.663+1155A>C (n.663+1155A>C)
c.1488A>C (p.Arg496Ser)
10g.68885614A>GCA470274093STOX1c.1818A>G (p.Arg606=)
c.2154A>G (p.Arg718=)
c.463+3504A>G (n.463+3504A>G)
c.663+1155A>G (n.663+1155A>G)
c.1488A>G (p.Arg496=)
10g.68885614A>TCA376881896STOX1c.1818A>T (p.Arg606Ser)
c.2154A>T (p.Arg718Ser)
c.463+3504A>T (n.463+3504A>T)
c.663+1155A>T (n.663+1155A>T)
c.1488A>T (p.Arg496Ser)
 dbSNP
10g.68885615T>ACA376881898STOX1c.1819T>A (p.Tyr607Asn)
c.2155T>A (p.Tyr719Asn)
c.463+3505T>A (n.463+3505T>A)
c.663+1156T>A (n.663+1156T>A)
c.1489T>A (p.Tyr497Asn)
10g.68885615T>CCA376881900STOX1c.1819T>C (p.Tyr607His)
c.2155T>C (p.Tyr719His)
c.463+3505T>C (n.463+3505T>C)
c.663+1156T>C (n.663+1156T>C)
c.1489T>C (p.Tyr497His)
 gnomAD v4
10g.68885615T>GCA376881899STOX1c.1819T>G (p.Tyr607Asp)
c.2155T>G (p.Tyr719Asp)
c.463+3505T>G (n.463+3505T>G)
c.663+1156T>G (n.663+1156T>G)
c.1489T>G (p.Tyr497Asp)
10g.68885616A=CA1917550058STOX1c.1820A= (p.Tyr607=)
c.2156A= (p.Tyr719=)
c.463+3506A= (n.463+3506A=)
c.663+1157A= (n.663+1157A=)
c.1490A= (p.Tyr497=)
10g.68885616A>CCA376881901STOX1c.1820A>C (p.Tyr607Ser)
c.2156A>C (p.Tyr719Ser)
c.463+3506A>C (n.463+3506A>C)
c.663+1157A>C (n.663+1157A>C)
c.1490A>C (p.Tyr497Ser)
10g.68885616A>GCA376881903STOX1c.1820A>G (p.Tyr607Cys)
c.2156A>G (p.Tyr719Cys)
c.463+3506A>G (n.463+3506A>G)
c.663+1157A>G (n.663+1157A>G)
c.1490A>G (p.Tyr497Cys)
 dbSNP gnomAD v2
10g.68885616A>TCA376881902STOX1c.1820A>T (p.Tyr607Phe)
c.2156A>T (p.Tyr719Phe)
c.463+3506A>T (n.463+3506A>T)
c.663+1157A>T (n.663+1157A>T)
c.1490A>T (p.Tyr497Phe)
10g.68885617T>ACA376881904STOX1c.1821T>A (p.Tyr607Ter)
c.2157T>A (p.Tyr719Ter)
c.463+3507T>A (n.463+3507T>A)
c.663+1158T>A (n.663+1158T>A)
c.1491T>A (p.Tyr497Ter)
10g.68885617T>CCA208268294STOX1c.1821T>C (p.Tyr607=)
c.2157T>C (p.Tyr719=)
c.463+3507T>C (n.463+3507T>C)
c.663+1158T>C (n.663+1158T>C)
c.1491T>C (p.Tyr497=)
 dbSNP gnomAD v2 gnomAD v4
10g.68885617T>GCA376881905STOX1c.1821T>G (p.Tyr607Ter)
c.2157T>G (p.Tyr719Ter)
c.463+3507T>G (n.463+3507T>G)
c.663+1158T>G (n.663+1158T>G)
c.1491T>G (p.Tyr497Ter)
10g.68885617T=CA1917550059STOX1c.1821T= (p.Tyr607=)
c.2157T= (p.Tyr719=)
c.463+3507T= (n.463+3507T=)
c.663+1158T= (n.663+1158T=)
c.1491T= (p.Tyr497=)
10g.68885618G>ACA376881906STOX1c.1822G>A (p.Glu608Lys)
c.2158G>A (p.Glu720Lys)
c.463+3508G>A (n.463+3508G>A)
c.663+1159G>A (n.663+1159G>A)
c.1492G>A (p.Glu498Lys)
 COSMIC
10g.68885618G>CCA376881907STOX1c.1822G>C (p.Glu608Gln)
c.2158G>C (p.Glu720Gln)
c.463+3508G>C (n.463+3508G>C)
c.663+1159G>C (n.663+1159G>C)
c.1492G>C (p.Glu498Gln)
10g.68885618G>TCA376881908STOX1c.1822G>T (p.Glu608Ter)
c.2158G>T (p.Glu720Ter)
c.463+3508G>T (n.463+3508G>T)
c.663+1159G>T (n.663+1159G>T)
c.1492G>T (p.Glu498Ter)
10g.68885619A>CCA376881909STOX1c.1823A>C (p.Glu608Ala)
c.2159A>C (p.Glu720Ala)
c.463+3509A>C (n.463+3509A>C)
c.663+1160A>C (n.663+1160A>C)
c.1493A>C (p.Glu498Ala)
10g.68885619A>GCA376881910STOX1c.1823A>G (p.Glu608Gly)
c.2159A>G (p.Glu720Gly)
c.463+3509A>G (n.463+3509A>G)
c.663+1160A>G (n.663+1160A>G)
c.1493A>G (p.Glu498Gly)
10g.68885619A>TCA376881911STOX1c.1823A>T (p.Glu608Val)
c.2159A>T (p.Glu720Val)
c.463+3509A>T (n.463+3509A>T)
c.663+1160A>T (n.663+1160A>T)
c.1493A>T (p.Glu498Val)
10g.68885620A=CA1917550060STOX1c.1824A= (p.Glu608=)
c.2160A= (p.Glu720=)
c.463+3510A= (n.463+3510A=)
c.663+1161A= (n.663+1161A=)
c.1494A= (p.Glu498=)
10g.68885620A>CCA115165STOX1c.1824A>C (p.Glu608Asp)
c.2160A>C (p.Glu720Asp)
c.463+3510A>C (n.463+3510A>C)
c.663+1161A>C (n.663+1161A>C)
c.1494A>C (p.Glu498Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.68885620A>GCA470274094STOX1c.1824A>G (p.Glu608=)
c.2160A>G (p.Glu720=)
c.463+3510A>G (n.463+3510A>G)
c.663+1161A>G (n.663+1161A>G)
c.1494A>G (p.Glu498=)
10g.68885620A>TCA376881912STOX1c.1824A>T (p.Glu608Asp)
c.2160A>T (p.Glu720Asp)
c.463+3510A>T (n.463+3510A>T)
c.663+1161A>T (n.663+1161A>T)
c.1494A>T (p.Glu498Asp)
 dbSNP gnomAD v2 gnomAD v4
10g.68885621G>ACA376881915STOX1c.1825G>A (p.Val609Met)
c.2161G>A (p.Val721Met)
c.463+3511G>A (n.463+3511G>A)
c.663+1162G>A (n.663+1162G>A)
c.1495G>A (p.Val499Met)
 gnomAD v4
10g.68885621G>CCA376881914STOX1c.1825G>C (p.Val609Leu)
c.2161G>C (p.Val721Leu)
c.463+3511G>C (n.463+3511G>C)
c.663+1162G>C (n.663+1162G>C)
c.1495G>C (p.Val499Leu)
10g.68885621G>TCA376881913STOX1c.1825G>T (p.Val609Leu)
c.2161G>T (p.Val721Leu)
c.463+3511G>T (n.463+3511G>T)
c.663+1162G>T (n.663+1162G>T)
c.1495G>T (p.Val499Leu)
10g.68885622T>ACA376881916STOX1c.1826T>A (p.Val609Glu)
c.2162T>A (p.Val721Glu)
c.463+3512T>A (n.463+3512T>A)
c.663+1163T>A (n.663+1163T>A)
c.1496T>A (p.Val499Glu)
10g.68885622T>CCA376881917STOX1c.1826T>C (p.Val609Ala)
c.2162T>C (p.Val721Ala)
c.463+3512T>C (n.463+3512T>C)
c.663+1163T>C (n.663+1163T>C)
c.1496T>C (p.Val499Ala)
10g.68885622T>GCA376881918STOX1c.1826T>G (p.Val609Gly)
c.2162T>G (p.Val721Gly)
c.463+3512T>G (n.463+3512T>G)
c.663+1163T>G (n.663+1163T>G)
c.1496T>G (p.Val499Gly)
10g.68885623G>ACA470274095STOX1c.1827G>A (p.Val609=)
c.2163G>A (p.Val721=)
c.463+3513G>A (n.463+3513G>A)
c.663+1164G>A (n.663+1164G>A)
c.1497G>A (p.Val499=)
10g.68885623G>CCA470274096STOX1c.1827G>C (p.Val609=)
c.2163G>C (p.Val721=)
c.463+3513G>C (n.463+3513G>C)
c.663+1164G>C (n.663+1164G>C)
c.1497G>C (p.Val499=)
10g.68885623G>TCA470274097STOX1c.1827G>T (p.Val609=)
c.2163G>T (p.Val721=)
c.463+3513G>T (n.463+3513G>T)
c.663+1164G>T (n.663+1164G>T)
c.1497G>T (p.Val499=)
10g.68885624T>ACA376881919STOX1c.1828T>A (p.Tyr610Asn)
c.2164T>A (p.Tyr722Asn)
c.463+3514T>A (n.463+3514T>A)
c.663+1165T>A (n.663+1165T>A)
c.1498T>A (p.Tyr500Asn)
 dbSNP gnomAD v2 gnomAD v4
10g.68885624T>CCA376881920STOX1c.1828T>C (p.Tyr610His)
c.2164T>C (p.Tyr722His)
c.463+3514T>C (n.463+3514T>C)
c.663+1165T>C (n.663+1165T>C)
c.1498T>C (p.Tyr500His)
10g.68885624T>GCA376881921STOX1c.1828T>G (p.Tyr610Asp)
c.2164T>G (p.Tyr722Asp)
c.463+3514T>G (n.463+3514T>G)
c.663+1165T>G (n.663+1165T>G)
c.1498T>G (p.Tyr500Asp)
10g.68885624T=CA1917550061STOX1c.1828T= (p.Tyr610=)
c.2164T= (p.Tyr722=)
c.463+3514T= (n.463+3514T=)
c.663+1165T= (n.663+1165T=)
c.1498T= (p.Tyr500=)
10g.68885625A=CA1917550062STOX1c.1829A= (p.Tyr610=)
c.2165A= (p.Tyr722=)
c.463+3515A= (n.463+3515A=)
c.663+1166A= (n.663+1166A=)
c.1499A= (p.Tyr500=)
10g.68885625A>CCA376881922STOX1c.1829A>C (p.Tyr610Ser)
c.2165A>C (p.Tyr722Ser)
c.463+3515A>C (n.463+3515A>C)
c.663+1166A>C (n.663+1166A>C)
c.1499A>C (p.Tyr500Ser)
10g.68885625A>GCA376881923STOX1c.1829A>G (p.Tyr610Cys)
c.2165A>G (p.Tyr722Cys)
c.463+3515A>G (n.463+3515A>G)
c.663+1166A>G (n.663+1166A>G)
c.1499A>G (p.Tyr500Cys)
 dbSNP gnomAD v2 gnomAD v4
10g.68885625A>TCA376881924STOX1c.1829A>T (p.Tyr610Phe)
c.2165A>T (p.Tyr722Phe)
c.463+3515A>T (n.463+3515A>T)
c.663+1166A>T (n.663+1166A>T)
c.1499A>T (p.Tyr500Phe)
10g.68885626T>ACA376881925STOX1c.1830T>A (p.Tyr610Ter)
c.2166T>A (p.Tyr722Ter)
c.463+3516T>A (n.463+3516T>A)
c.663+1167T>A (n.663+1167T>A)
c.1500T>A (p.Tyr500Ter)
10g.68885626T>CCA470274098STOX1c.1830T>C (p.Tyr610=)
c.2166T>C (p.Tyr722=)
c.463+3516T>C (n.463+3516T>C)
c.663+1167T>C (n.663+1167T>C)
c.1500T>C (p.Tyr500=)
 dbSNP gnomAD v4
10g.68885626T>GCA376881926STOX1c.1830T>G (p.Tyr610Ter)
c.2166T>G (p.Tyr722Ter)
c.463+3516T>G (n.463+3516T>G)
c.663+1167T>G (n.663+1167T>G)
c.1500T>G (p.Tyr500Ter)
10g.68885626T=CA1917550063STOX1c.1830T= (p.Tyr610=)
c.2166T= (p.Tyr722=)
c.463+3516T= (n.463+3516T=)
c.663+1167T= (n.663+1167T=)
c.1500T= (p.Tyr500=)
10g.68885627G>ACA376881928STOX1c.1831G>A (p.Gly611Ser)
c.2167G>A (p.Gly723Ser)
c.463+3517G>A (n.463+3517G>A)
c.663+1168G>A (n.663+1168G>A)
c.1501G>A (p.Gly501Ser)
10g.68885627G>CCA376881929STOX1c.1831G>C (p.Gly611Arg)
c.2167G>C (p.Gly723Arg)
c.463+3517G>C (n.463+3517G>C)
c.663+1168G>C (n.663+1168G>C)
c.1501G>C (p.Gly501Arg)
10g.68885627G>TCA376881927STOX1c.1831G>T (p.Gly611Cys)
c.2167G>T (p.Gly723Cys)
c.463+3517G>T (n.463+3517G>T)
c.663+1168G>T (n.663+1168G>T)
c.1501G>T (p.Gly501Cys)
10g.68885628G>ACA376881930STOX1c.1832G>A (p.Gly611Asp)
c.2168G>A (p.Gly723Asp)
c.463+3518G>A (n.463+3518G>A)
c.663+1169G>A (n.663+1169G>A)
c.1502G>A (p.Gly501Asp)
 gnomAD v4
10g.68885628G>CCA376881931STOX1c.1832G>C (p.Gly611Ala)
c.2168G>C (p.Gly723Ala)
c.463+3518G>C (n.463+3518G>C)
c.663+1169G>C (n.663+1169G>C)
c.1502G>C (p.Gly501Ala)
10g.68885628G>TCA376881932STOX1c.1832G>T (p.Gly611Val)
c.2168G>T (p.Gly723Val)
c.463+3518G>T (n.463+3518G>T)
c.663+1169G>T (n.663+1169G>T)
c.1502G>T (p.Gly501Val)
10g.68885629T>ACA470274099STOX1c.1833T>A (p.Gly611=)
c.2169T>A (p.Gly723=)
c.463+3519T>A (n.463+3519T>A)
c.663+1170T>A (n.663+1170T>A)
c.1503T>A (p.Gly501=)
10g.68885629T>CCA470274101STOX1c.1833T>C (p.Gly611=)
c.2169T>C (p.Gly723=)
c.463+3519T>C (n.463+3519T>C)
c.663+1170T>C (n.663+1170T>C)
c.1503T>C (p.Gly501=)
10g.68885629T>GCA470274100STOX1c.1833T>G (p.Gly611=)
c.2169T>G (p.Gly723=)
c.463+3519T>G (n.463+3519T>G)
c.663+1170T>G (n.663+1170T>G)
c.1503T>G (p.Gly501=)
10g.68885630G>ACA376881933STOX1c.1834G>A (p.Gly612Arg)
c.2170G>A (p.Gly724Arg)
c.463+3520G>A (n.463+3520G>A)
c.663+1171G>A (n.663+1171G>A)
c.1504G>A (p.Gly502Arg)
10g.68885630G>CCA376881934STOX1c.1834G>C (p.Gly612Arg)
c.2170G>C (p.Gly724Arg)
c.463+3520G>C (n.463+3520G>C)
c.663+1171G>C (n.663+1171G>C)
c.1504G>C (p.Gly502Arg)
10g.68885630G>TCA376881935STOX1c.1834G>T (p.Gly612Ter)
c.2170G>T (p.Gly724Ter)
c.463+3520G>T (n.463+3520G>T)
c.663+1171G>T (n.663+1171G>T)
c.1504G>T (p.Gly502Ter)
10g.68885631G>ACA208268314STOX1c.1835G>A (p.Gly612Glu)
c.2171G>A (p.Gly724Glu)
c.463+3521G>A (n.463+3521G>A)
c.663+1172G>A (n.663+1172G>A)
c.1505G>A (p.Gly502Glu)
 dbSNP
10g.68885631G>CCA376881936STOX1c.1835G>C (p.Gly612Ala)
c.2171G>C (p.Gly724Ala)
c.463+3521G>C (n.463+3521G>C)
c.663+1172G>C (n.663+1172G>C)
c.1505G>C (p.Gly502Ala)
10g.68885631G=CA1917550064STOX1c.1835G= (p.Gly612=)
c.2171G= (p.Gly724=)
c.463+3521G= (n.463+3521G=)
c.663+1172G= (n.663+1172G=)
c.1505G= (p.Gly502=)
10g.68885631G>TCA376881937STOX1c.1835G>T (p.Gly612Val)
c.2171G>T (p.Gly724Val)
c.463+3521G>T (n.463+3521G>T)
c.663+1172G>T (n.663+1172G>T)
c.1505G>T (p.Gly502Val)
10g.68885632A>CCA470274102STOX1c.1836A>C (p.Gly612=)
c.2172A>C (p.Gly724=)
c.463+3522A>C (n.463+3522A>C)
c.663+1173A>C (n.663+1173A>C)
c.1506A>C (p.Gly502=)
10g.68885632A>GCA470274103STOX1c.1836A>G (p.Gly612=)
c.2172A>G (p.Gly724=)
c.463+3522A>G (n.463+3522A>G)
c.663+1173A>G (n.663+1173A>G)
c.1506A>G (p.Gly502=)
10g.68885632A>TCA470274104STOX1c.1836A>T (p.Gly612=)
c.2172A>T (p.Gly724=)
c.463+3522A>T (n.463+3522A>T)
c.663+1173A>T (n.663+1173A>T)
c.1506A>T (p.Gly502=)
10g.68885633G>ACA376881938STOX1c.1837G>A (p.Glu613Lys)
c.2173G>A (p.Glu725Lys)
c.463+3523G>A (n.463+3523G>A)
c.663+1174G>A (n.663+1174G>A)
c.1507G>A (p.Glu503Lys)
10g.68885633G>CCA376881939STOX1c.1837G>C (p.Glu613Gln)
c.2173G>C (p.Glu725Gln)
c.463+3523G>C (n.463+3523G>C)
c.663+1174G>C (n.663+1174G>C)
c.1507G>C (p.Glu503Gln)
 gnomAD v4
10g.68885633G>TCA376881940STOX1c.1837G>T (p.Glu613Ter)
c.2173G>T (p.Glu725Ter)
c.463+3523G>T (n.463+3523G>T)
c.663+1174G>T (n.663+1174G>T)
c.1507G>T (p.Glu503Ter)
10g.68885634A>CCA376881943STOX1c.1838A>C (p.Glu613Ala)
c.2174A>C (p.Glu725Ala)
c.463+3524A>C (n.463+3524A>C)
c.663+1175A>C (n.663+1175A>C)
c.1508A>C (p.Glu503Ala)
10g.68885634A>GCA376881941STOX1c.1838A>G (p.Glu613Gly)
c.2174A>G (p.Glu725Gly)
c.463+3524A>G (n.463+3524A>G)
c.663+1175A>G (n.663+1175A>G)
c.1508A>G (p.Glu503Gly)
10g.68885634A>TCA376881942STOX1c.1838A>T (p.Glu613Val)
c.2174A>T (p.Glu725Val)
c.463+3524A>T (n.463+3524A>T)
c.663+1175A>T (n.663+1175A>T)
c.1508A>T (p.Glu503Val)
10g.68885637delCA470274105STOX1c.1841del (p.Asn614MetfsTer3)
c.2177del (p.Asn726MetfsTer3)
c.463+3527del (n.463+3527del)
c.663+1178del (n.663+1178del)
c.1511del (p.Asn504MetfsTer3)
 COSMIC
10g.68885635A>CCA376881944STOX1c.1839A>C (p.Glu613Asp)
c.2175A>C (p.Glu725Asp)
c.463+3525A>C (n.463+3525A>C)
c.663+1176A>C (n.663+1176A>C)
c.1509A>C (p.Glu503Asp)
10g.68885635A>GCA470274106STOX1c.1839A>G (p.Glu613=)
c.2175A>G (p.Glu725=)
c.463+3525A>G (n.463+3525A>G)
c.663+1176A>G (n.663+1176A>G)
c.1509A>G (p.Glu503=)
10g.68885635A>TCA376881945STOX1c.1839A>T (p.Glu613Asp)
c.2175A>T (p.Glu725Asp)
c.463+3525A>T (n.463+3525A>T)
c.663+1176A>T (n.663+1176A>T)
c.1509A>T (p.Glu503Asp)
10g.68885636A>CCA376881946STOX1c.1840A>C (p.Asn614His)
c.2176A>C (p.Asn726His)
c.463+3526A>C (n.463+3526A>C)
c.663+1177A>C (n.663+1177A>C)
c.1510A>C (p.Asn504His)
10g.68885636A>GCA376881947STOX1c.1840A>G (p.Asn614Asp)
c.2176A>G (p.Asn726Asp)
c.463+3526A>G (n.463+3526A>G)
c.663+1177A>G (n.663+1177A>G)
c.1510A>G (p.Asn504Asp)
10g.68885636A>TCA376881948STOX1c.1840A>T (p.Asn614Tyr)
c.2176A>T (p.Asn726Tyr)
c.463+3526A>T (n.463+3526A>T)
c.663+1177A>T (n.663+1177A>T)
c.1510A>T (p.Asn504Tyr)
10g.68885637A>CCA376881949STOX1c.1841A>C (p.Asn614Thr)
c.2177A>C (p.Asn726Thr)
c.463+3527A>C (n.463+3527A>C)
c.663+1178A>C (n.663+1178A>C)
c.1511A>C (p.Asn504Thr)
 gnomAD v4
10g.68885637A>GCA376881950STOX1c.1841A>G (p.Asn614Ser)
c.2177A>G (p.Asn726Ser)
c.463+3527A>G (n.463+3527A>G)
c.663+1178A>G (n.663+1178A>G)
c.1511A>G (p.Asn504Ser)
10g.68885637A>TCA376881951STOX1c.1841A>T (p.Asn614Ile)
c.2177A>T (p.Asn726Ile)
c.463+3527A>T (n.463+3527A>T)
c.663+1178A>T (n.663+1178A>T)
c.1511A>T (p.Asn504Ile)
10g.68885638T>ACA376881952STOX1c.1842T>A (p.Asn614Lys)
c.2178T>A (p.Asn726Lys)
c.463+3528T>A (n.463+3528T>A)
c.663+1179T>A (n.663+1179T>A)
c.1512T>A (p.Asn504Lys)
10g.68885638T>CCA470274107STOX1c.1842T>C (p.Asn614=)
c.2178T>C (p.Asn726=)
c.463+3528T>C (n.463+3528T>C)
c.663+1179T>C (n.663+1179T>C)
c.1512T>C (p.Asn504=)
10g.68885638T>GCA376881953STOX1c.1842T>G (p.Asn614Lys)
c.2178T>G (p.Asn726Lys)
c.463+3528T>G (n.463+3528T>G)
c.663+1179T>G (n.663+1179T>G)
c.1512T>G (p.Asn504Lys)
 dbSNP
10g.68885638T=CA1917550065STOX1c.1842T= (p.Asn614=)
c.2178T= (p.Asn726=)
c.463+3528T= (n.463+3528T=)
c.663+1179T= (n.663+1179T=)
c.1512T= (p.Asn504=)
10g.68885639G>ACA376881954STOX1c.1843G>A (p.Glu615Lys)
c.2179G>A (p.Glu727Lys)
c.463+3529G>A (n.463+3529G>A)
c.663+1180G>A (n.663+1180G>A)
c.1513G>A (p.Glu505Lys)
 dbSNP gnomAD v3 gnomAD v4
10g.68885639G>CCA376881955STOX1c.1843G>C (p.Glu615Gln)
c.2179G>C (p.Glu727Gln)
c.463+3529G>C (n.463+3529G>C)
c.663+1180G>C (n.663+1180G>C)
c.1513G>C (p.Glu505Gln)
10g.68885639G=CA1917550066STOX1c.1843G= (p.Glu615=)
c.2179G= (p.Glu727=)
c.463+3529G= (n.463+3529G=)
c.663+1180G= (n.663+1180G=)
c.1513G= (p.Glu505=)
10g.68885639G>TCA376881956STOX1c.1843G>T (p.Glu615Ter)
c.2179G>T (p.Glu727Ter)
c.463+3529G>T (n.463+3529G>T)
c.663+1180G>T (n.663+1180G>T)
c.1513G>T (p.Glu505Ter)
10g.68885640A>CCA376881959STOX1c.1844A>C (p.Glu615Ala)
c.2180A>C (p.Glu727Ala)
c.463+3530A>C (n.463+3530A>C)
c.663+1181A>C (n.663+1181A>C)
c.1514A>C (p.Glu505Ala)
10g.68885640A>GCA376881958STOX1c.1844A>G (p.Glu615Gly)
c.2180A>G (p.Glu727Gly)
c.463+3530A>G (n.463+3530A>G)
c.663+1181A>G (n.663+1181A>G)
c.1514A>G (p.Glu505Gly)
10g.68885640A>TCA376881957STOX1c.1844A>T (p.Glu615Val)
c.2180A>T (p.Glu727Val)
c.463+3530A>T (n.463+3530A>T)
c.663+1181A>T (n.663+1181A>T)
c.1514A>T (p.Glu505Val)
10g.68885641G>ACA5528237STOX1c.1845G>A (p.Glu615=)
c.2181G>A (p.Glu727=)
c.463+3531G>A (n.463+3531G>A)
c.663+1182G>A (n.663+1182G>A)
c.1515G>A (p.Glu505=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.68885641G>CCA376881960STOX1c.1845G>C (p.Glu615Asp)
c.2181G>C (p.Glu727Asp)
c.463+3531G>C (n.463+3531G>C)
c.663+1182G>C (n.663+1182G>C)
c.1515G>C (p.Glu505Asp)
10g.68885641G=CA1917550067STOX1c.1845G= (p.Glu615=)
c.2181G= (p.Glu727=)
c.463+3531G= (n.463+3531G=)
c.663+1182G= (n.663+1182G=)
c.1515G= (p.Glu505=)
10g.68885641G>TCA376881961STOX1c.1845G>T (p.Glu615Asp)
c.2181G>T (p.Glu727Asp)
c.463+3531G>T (n.463+3531G>T)
c.663+1182G>T (n.663+1182G>T)
c.1515G>T (p.Glu505Asp)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched