Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.113149268C>ACA485424088F10c.1218C>A (p.Gly406=)
c.*209C>A (n.*209C>A)
c.1086C>A (p.Gly362=)
13g.113149268C>GCA485424089F10c.1218C>G (p.Gly406=)
c.*209C>G (n.*209C>G)
c.1086C>G (p.Gly362=)
13g.113149268C>TCA485424090F10c.1218C>T (p.Gly406=)
c.*209C>T (n.*209C>T)
c.1086C>T (p.Gly362=)
13g.113149269T>ACA388793733F10c.1219T>A (p.Tyr407Asn)
c.*210T>A (n.*210T>A)
c.1087T>A (p.Tyr363Asn)
13g.113149269T>CCA388793734F10c.1219T>C (p.Tyr407His)
c.*210T>C (n.*210T>C)
c.1087T>C (p.Tyr363His)
13g.113149269T>GCA388793738F10c.1219T>G (p.Tyr407Asp)
c.*210T>G (n.*210T>G)
c.1087T>G (p.Tyr363Asp)
13g.113149270A>CCA388793741F10c.1220A>C (p.Tyr407Ser)
c.*211A>C (n.*211A>C)
c.1088A>C (p.Tyr363Ser)
13g.113149270A>GCA388793744F10c.1220A>G (p.Tyr407Cys)
c.*211A>G (n.*211A>G)
c.1088A>G (p.Tyr363Cys)
13g.113149270A>TCA388793745F10c.1220A>T (p.Tyr407Phe)
c.*211A>T (n.*211A>T)
c.1088A>T (p.Tyr363Phe)
13g.113149272_113149274delCA915940388F10c.1222_1224del (p.Asp408del)
c.*213_*215del (n.*213_*215del)
c.1090_1092del (p.Asp364del)
13g.113149271C>ACA388793748F10c.1221C>A (p.Tyr407Ter)
c.*212C>A (n.*212C>A)
c.1089C>A (p.Tyr363Ter)
13g.113149271C=CA2120140370F10c.1221C= (p.Tyr407=)
c.*212C= (n.*212C=)
c.1089C= (p.Tyr363=)
13g.113149271C>GCA388793750F10c.1221C>G (p.Tyr407Ter)
c.*212C>G (n.*212C>G)
c.1089C>G (p.Tyr363Ter)
13g.113149271C>TCA7060706F10c.1221C>T (p.Tyr407=)
c.*212C>T (n.*212C>T)
c.1089C>T (p.Tyr363=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149272G>ACA7060707F10c.1222G>A (p.Asp408Asn)
c.*213G>A (n.*213G>A)
c.1090G>A (p.Asp364Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149272G>CCA388793757F10c.1222G>C (p.Asp408His)
c.*213G>C (n.*213G>C)
c.1090G>C (p.Asp364His)
 gnomAD v4
13g.113149272G=CA2120140375F10c.1222G= (p.Asp408=)
c.*213G= (n.*213G=)
c.1090G= (p.Asp364=)
13g.113149272G>TCA388793760F10c.1222G>T (p.Asp408Tyr)
c.*213G>T (n.*213G>T)
c.1090G>T (p.Asp364Tyr)
13g.113149273A=CA2120140381F10c.1223A= (p.Asp408=)
c.*214A= (n.*214A=)
c.1091A= (p.Asp364=)
13g.113149273A>CCA388793764F10c.1223A>C (p.Asp408Ala)
c.*214A>C (n.*214A>C)
c.1091A>C (p.Asp364Ala)
13g.113149273A>GCA388793765F10c.1223A>G (p.Asp408Gly)
c.*214A>G (n.*214A>G)
c.1091A>G (p.Asp364Gly)
13g.113149273A>TCA388793762F10c.1223A>T (p.Asp408Val)
c.*214A>T (n.*214A>T)
c.1091A>T (p.Asp364Val)
 dbSNP gnomAD v4
13g.113149274C>ACA388793771F10c.1224C>A (p.Asp408Glu)
c.*215C>A (n.*215C>A)
c.1092C>A (p.Asp364Glu)
13g.113149274C=CA2120140384F10c.1224C= (p.Asp408=)
c.*215C= (n.*215C=)
c.1092C= (p.Asp364=)
13g.113149274C>GCA388793768F10c.1224C>G (p.Asp408Glu)
c.*215C>G (n.*215C>G)
c.1092C>G (p.Asp364Glu)
 dbSNP
13g.113149274C>TCA485424091F10c.1224C>T (p.Asp408=)
c.*215C>T (n.*215C>T)
c.1092C>T (p.Asp364=)
13g.113149275A=CA2120140387F10c.1225A= (p.Thr409=)
c.*216A= (n.*216A=)
c.1093A= (p.Thr365=)
13g.113149275A>CCA388793775F10c.1225A>C (p.Thr409Pro)
c.*216A>C (n.*216A>C)
c.1093A>C (p.Thr365Pro)
13g.113149275A>GCA388793776F10c.1225A>G (p.Thr409Ala)
c.*216A>G (n.*216A>G)
c.1093A>G (p.Thr365Ala)
 dbSNP
13g.113149275A>TCA388793779F10c.1225A>T (p.Thr409Ser)
c.*216A>T (n.*216A>T)
c.1093A>T (p.Thr365Ser)
13g.113149276C>ACA388793781F10c.1226C>A (p.Thr409Asn)
c.*217C>A (n.*217C>A)
c.1094C>A (p.Thr365Asn)
13g.113149276C=CA2120140391F10c.1226C= (p.Thr409=)
c.*217C= (n.*217C=)
c.1094C= (p.Thr365=)
13g.113149276C>GCA388793784F10c.1226C>G (p.Thr409Ser)
c.*217C>G (n.*217C>G)
c.1094C>G (p.Thr365Ser)
13g.113149276C>TCA7060708F10c.1226C>T (p.Thr409Ile)
c.*217C>T (n.*217C>T)
c.1094C>T (p.Thr365Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149277C>ACA7060709F10c.1227C>A (p.Thr409=)
c.*218C>A (n.*218C>A)
c.1095C>A (p.Thr365=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149277C=CA2120140396F10c.1227C= (p.Thr409=)
c.*218C= (n.*218C=)
c.1095C= (p.Thr365=)
13g.113149277C>GCA485424093F10c.1227C>G (p.Thr409=)
c.*218C>G (n.*218C>G)
c.1095C>G (p.Thr365=)
13g.113149277C>TCA485424092F10c.1227C>T (p.Thr409=)
c.*218C>T (n.*218C>T)
c.1095C>T (p.Thr365=)
13g.113149278A=CA2120140399F10c.1228A= (p.Lys410=)
c.*219A= (n.*219A=)
c.1096A= (p.Lys366=)
13g.113149278A>CCA388793789F10c.1228A>C (p.Lys410Gln)
c.*219A>C (n.*219A>C)
c.1096A>C (p.Lys366Gln)
 ClinVar
13g.113149278A>GCA388793792F10c.1228A>G (p.Lys410Glu)
c.*219A>G (n.*219A>G)
c.1096A>G (p.Lys366Glu)
13g.113149278A>TCA388793794F10c.1228A>T (p.Lys410Ter)
c.*219A>T (n.*219A>T)
c.1096A>T (p.Lys366Ter)
 dbSNP gnomAD v4
13g.113149279A>CCA388793798F10c.1229A>C (p.Lys410Thr)
c.*220A>C (n.*220A>C)
c.1097A>C (p.Lys366Thr)
13g.113149279A>GCA388793800F10c.1229A>G (p.Lys410Arg)
c.*220A>G (n.*220A>G)
c.1097A>G (p.Lys366Arg)
13g.113149279A>TCA388793801F10c.1229A>T (p.Lys410Met)
c.*220A>T (n.*220A>T)
c.1097A>T (p.Lys366Met)
13g.113149279_113149280insACACACCCAACCA2800665343F10c.1229_1230insACACACCCAAC (p.Gln411HisfsTer27)
c.*220_*221insACACACCCAAC (n.*220_*221insACACACCCAAC)
c.1097_1098insACACACCCAAC (p.Gln367HisfsTer27)
13g.113149280G>ACA485424094F10c.1230G>A (p.Lys410=)
c.*221G>A (n.*221G>A)
c.1098G>A (p.Lys366=)
13g.113149280G>CCA388793805F10c.1230G>C (p.Lys410Asn)
c.*221G>C (n.*221G>C)
c.1098G>C (p.Lys366Asn)
13g.113149280G>TCA388793807F10c.1230G>T (p.Lys410Asn)
c.*221G>T (n.*221G>T)
c.1098G>T (p.Lys366Asn)
13g.113149281_113149284dupCA2575514505F10c.1231_1234dup (p.Glu412AlafsTer?)
c.*222_*225dup (n.*222_*225dup)
c.1099_1102dup (p.Glu368AlafsTer?)
13g.113149281C>ACA388793810F10c.1231C>A (p.Gln411Lys)
c.*222C>A (n.*222C>A)
c.1099C>A (p.Gln367Lys)
13g.113149281C=CA2120140401F10c.1231C= (p.Gln411=)
c.*222C= (n.*222C=)
c.1099C= (p.Gln367=)
13g.113149281C>GCA388793812F10c.1231C>G (p.Gln411Glu)
c.*222C>G (n.*222C>G)
c.1099C>G (p.Gln367Glu)
13g.113149281C>TCA388793816F10c.1231C>T (p.Gln411Ter)
c.*222C>T (n.*222C>T)
c.1099C>T (p.Gln367Ter)
 dbSNP
13g.113149282A=CA2120140404F10c.1232A= (p.Gln411=)
c.*223A= (n.*223A=)
c.1100A= (p.Gln367=)
13g.113149282A>CCA388793819F10c.1232A>C (p.Gln411Pro)
c.*223A>C (n.*223A>C)
c.1100A>C (p.Gln367Pro)
13g.113149282A>GCA388793821F10c.1232A>G (p.Gln411Arg)
c.*223A>G (n.*223A>G)
c.1100A>G (p.Gln367Arg)
 gnomAD v4
13g.113149282A>TCA388793824F10c.1232A>T (p.Gln411Leu)
c.*223A>T (n.*223A>T)
c.1100A>T (p.Gln367Leu)
 dbSNP
13g.113149283G>ACA485424095F10c.1233G>A (p.Gln411=)
c.*224G>A (n.*224G>A)
c.1101G>A (p.Gln367=)
 dbSNP gnomAD v4
13g.113149283G>CCA388793826F10c.1233G>C (p.Gln411His)
c.*224G>C (n.*224G>C)
c.1101G>C (p.Gln367His)
13g.113149283G=CA2120140407F10c.1233G= (p.Gln411=)
c.*224G= (n.*224G=)
c.1101G= (p.Gln367=)
13g.113149283G>TCA388793828F10c.1233G>T (p.Gln411His)
c.*224G>T (n.*224G>T)
c.1101G>T (p.Gln367His)
13g.113149284G>ACA388793830F10c.1234G>A (p.Glu412Lys)
c.*225G>A (n.*225G>A)
c.1102G>A (p.Glu368Lys)
 gnomAD v4
13g.113149284G>CCA388793832F10c.1234G>C (p.Glu412Gln)
c.*225G>C (n.*225G>C)
c.1102G>C (p.Glu368Gln)
13g.113149284G>TCA388793833F10c.1234G>T (p.Glu412Ter)
c.*225G>T (n.*225G>T)
c.1102G>T (p.Glu368Ter)
13g.113149285A>CCA388793842F10c.1235A>C (p.Glu412Ala)
c.*226A>C (n.*226A>C)
c.1103A>C (p.Glu368Ala)
13g.113149285A>GCA388793840F10c.1235A>G (p.Glu412Gly)
c.*226A>G (n.*226A>G)
c.1103A>G (p.Glu368Gly)
13g.113149285A>TCA388793837F10c.1235A>T (p.Glu412Val)
c.*226A>T (n.*226A>T)
c.1103A>T (p.Glu368Val)
13g.113149286G>ACA7060710F10c.1236G>A (p.Glu412=)
c.*227G>A (n.*227G>A)
c.1104G>A (p.Glu368=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149286G>CCA388793847F10c.1236G>C (p.Glu412Asp)
c.*227G>C (n.*227G>C)
c.1104G>C (p.Glu368Asp)
13g.113149286G=CA2120140410F10c.1236G= (p.Glu412=)
c.*227G= (n.*227G=)
c.1104G= (p.Glu368=)
13g.113149286G>TCA388793850F10c.1236G>T (p.Glu412Asp)
c.*227G>T (n.*227G>T)
c.1104G>T (p.Glu368Asp)
13g.113149287G>ACA388793853F10c.1237G>A (p.Asp413Asn)
c.*228G>A (n.*228G>A)
c.1105G>A (p.Asp369Asn)
 ClinVar dbSNP gnomAD v4
13g.113149287G>CCA388793855F10c.1237G>C (p.Asp413His)
c.*228G>C (n.*228G>C)
c.1105G>C (p.Asp369His)
13g.113149287G=CA2120140411F10c.1237G= (p.Asp413=)
c.*228G= (n.*228G=)
c.1105G= (p.Asp369=)
13g.113149287G>TCA388793858F10c.1237G>T (p.Asp413Tyr)
c.*228G>T (n.*228G>T)
c.1105G>T (p.Asp369Tyr)
13g.113149288A>CCA388793861F10c.1238A>C (p.Asp413Ala)
c.*229A>C (n.*229A>C)
c.1106A>C (p.Asp369Ala)
13g.113149288A>GCA388793862F10c.1238A>G (p.Asp413Gly)
c.*229A>G (n.*229A>G)
c.1106A>G (p.Asp369Gly)
13g.113149288A>TCA388793865F10c.1238A>T (p.Asp413Val)
c.*229A>T (n.*229A>T)
c.1106A>T (p.Asp369Val)
13g.113149289T>ACA388793868F10c.1239T>A (p.Asp413Glu)
c.*230T>A (n.*230T>A)
c.1107T>A (p.Asp369Glu)
13g.113149289T>CCA7060711F10c.1239T>C (p.Asp413=)
c.*230T>C (n.*230T>C)
c.1107T>C (p.Asp369=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149289T>GCA388793870F10c.1239T>G (p.Asp413Glu)
c.*230T>G (n.*230T>G)
c.1107T>G (p.Asp369Glu)
13g.113149289T=CA2120140415F10c.1239T= (p.Asp413=)
c.*230T= (n.*230T=)
c.1107T= (p.Asp369=)
13g.113149290G>ACA388793877F10c.1240G>A (p.Ala414Thr)
c.*231G>A (n.*231G>A)
c.1108G>A (p.Ala370Thr)
13g.113149290G>CCA388793880F10c.1240G>C (p.Ala414Pro)
c.*231G>C (n.*231G>C)
c.1108G>C (p.Ala370Pro)
13g.113149290G>TCA388793875F10c.1240G>T (p.Ala414Ser)
c.*231G>T (n.*231G>T)
c.1108G>T (p.Ala370Ser)
13g.113149291C>ACA388793883F10c.1241C>A (p.Ala414Asp)
c.*232C>A (n.*232C>A)
c.1109C>A (p.Ala370Asp)
 gnomAD v4
13g.113149291C=CA2120140418F10c.1241C= (p.Ala414=)
c.*232C= (n.*232C=)
c.1109C= (p.Ala370=)
13g.113149291C>GCA256478723F10c.1241C>G (p.Ala414Gly)
c.*232C>G (n.*232C>G)
c.1109C>G (p.Ala370Gly)
 dbSNP
13g.113149291C>TCA388793887F10c.1241C>T (p.Ala414Val)
c.*232C>T (n.*232C>T)
c.1109C>T (p.Ala370Val)
13g.113149292C>ACA485424098F10c.1242C>A (p.Ala414=)
c.*233C>A (n.*233C>A)
c.1110C>A (p.Ala370=)
 gnomAD v4
13g.113149292C>GCA485424102F10c.1242C>G (p.Ala414=)
c.*233C>G (n.*233C>G)
c.1110C>G (p.Ala370=)
13g.113149292C>TCA485424099F10c.1242C>T (p.Ala414=)
c.*233C>T (n.*233C>T)
c.1110C>T (p.Ala370=)
13g.113149293T>ACA388793890F10c.1243T>A (p.Cys415Ser)
c.*234T>A (n.*234T>A)
c.1111T>A (p.Cys371Ser)
13g.113149293T>CCA388793892F10c.1243T>C (p.Cys415Arg)
c.*234T>C (n.*234T>C)
c.1111T>C (p.Cys371Arg)
13g.113149293T>GCA388793894F10c.1243T>G (p.Cys415Gly)
c.*234T>G (n.*234T>G)
c.1111T>G (p.Cys371Gly)
13g.113149294G>ACA388793898F10c.1244G>A (p.Cys415Tyr)
c.*235G>A (n.*235G>A)
c.1112G>A (p.Cys371Tyr)
13g.113149294G>CCA388793902F10c.1244G>C (p.Cys415Ser)
c.*235G>C (n.*235G>C)
c.1112G>C (p.Cys371Ser)
13g.113149294G>TCA388793900F10c.1244G>T (p.Cys415Phe)
c.*235G>T (n.*235G>T)
c.1112G>T (p.Cys371Phe)
13g.113149295C>ACA388793905F10c.1245C>A (p.Cys415Ter)
c.*236C>A (n.*236C>A)
c.1113C>A (p.Cys371Ter)
13g.113149295C=CA2120140425F10c.1245C= (p.Cys415=)
c.*236C= (n.*236C=)
c.1113C= (p.Cys371=)
13g.113149295C>GCA388793908F10c.1245C>G (p.Cys415Trp)
c.*236C>G (n.*236C>G)
c.1113C>G (p.Cys371Trp)
13g.113149295C>TCA485424104F10c.1245C>T (p.Cys415=)
c.*236C>T (n.*236C>T)
c.1113C>T (p.Cys371=)
 dbSNP gnomAD v4
13g.113149296C>ACA388793910F10c.1246C>A (p.Gln416Lys)
c.*237C>A (n.*237C>A)
c.1114C>A (p.Gln372Lys)
13g.113149296C>GCA388793913F10c.1246C>G (p.Gln416Glu)
c.*237C>G (n.*237C>G)
c.1114C>G (p.Gln372Glu)
 gnomAD v4
13g.113149296C>TCA388793915F10c.1246C>T (p.Gln416Ter)
c.*237C>T (n.*237C>T)
c.1114C>T (p.Gln372Ter)
 COSMIC
13g.113149297delCA2623809970F10c.1247del (p.Gln416ArgfsTer18)
c.*238del (n.*238del)
c.1115del (p.Gln372ArgfsTer18)
 gnomAD v4
13g.113149297A=CA2120140428F10c.1247A= (p.Gln416=)
c.*238A= (n.*238A=)
c.1115A= (p.Gln372=)
13g.113149297A>CCA388793919F10c.1247A>C (p.Gln416Pro)
c.*238A>C (n.*238A>C)
c.1115A>C (p.Gln372Pro)
13g.113149297A>GCA388793921F10c.1247A>G (p.Gln416Arg)
c.*238A>G (n.*238A>G)
c.1115A>G (p.Gln372Arg)
13g.113149297A>TCA256478725F10c.1247A>T (p.Gln416Leu)
c.*238A>T (n.*238A>T)
c.1115A>T (p.Gln372Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149297_113149298delinsAGCA2120140429F10c.1247_1248delinsAG (p.Gln416=)
c.*238_*239delinsAG (n.*238_*239delinsAG)
c.1115_1116delinsAG (p.Gln372=)
13g.113149298G>ACA485424107F10c.1248G>A (p.Gln416=)
c.*239G>A (n.*239G>A)
c.1116G>A (p.Gln372=)
 dbSNP
13g.113149298G>CCA388793927F10c.1248G>C (p.Gln416His)
c.*239G>C (n.*239G>C)
c.1116G>C (p.Gln372His)
 gnomAD v4
13g.113149298G=CA2120140434F10c.1248G= (p.Gln416=)
c.*239G= (n.*239G=)
c.1116G= (p.Gln372=)
13g.113149298G>TCA388793924F10c.1248G>T (p.Gln416His)
c.*239G>T (n.*239G>T)
c.1116G>T (p.Gln372His)
13g.113149302delCA2120140432F10c.1252del (p.Asp418ThrfsTer16)
c.*243del (n.*243del)
c.1120del (p.Asp374ThrfsTer16)
 dbSNP
13g.113149299G>ACA388793933F10c.1249G>A (p.Gly417Arg)
c.*240G>A (n.*240G>A)
c.1117G>A (p.Gly373Arg)
13g.113149299G>CCA388793930F10c.1249G>C (p.Gly417Arg)
c.*240G>C (n.*240G>C)
c.1117G>C (p.Gly373Arg)
13g.113149299G>TCA388793936F10c.1249G>T (p.Gly417Trp)
c.*240G>T (n.*240G>T)
c.1117G>T (p.Gly373Trp)
13g.113149300G>ACA388793938F10c.1250G>A (p.Gly417Glu)
c.*241G>A (n.*241G>A)
c.1118G>A (p.Gly373Glu)
 dbSNP gnomAD v3 gnomAD v4
13g.113149300G>CCA388793940F10c.1250G>C (p.Gly417Ala)
c.*241G>C (n.*241G>C)
c.1118G>C (p.Gly373Ala)
13g.113149300G=CA2120140438F10c.1250G= (p.Gly417=)
c.*241G= (n.*241G=)
c.1118G= (p.Gly373=)
13g.113149300G>TCA388793941F10c.1250G>T (p.Gly417Val)
c.*241G>T (n.*241G>T)
c.1118G>T (p.Gly373Val)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
13g.113149301G>ACA7060712F10c.1251G>A (p.Gly417=)
c.*242G>A (n.*242G>A)
c.1119G>A (p.Gly373=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149301G>CCA485424110F10c.1251G>C (p.Gly417=)
c.*242G>C (n.*242G>C)
c.1119G>C (p.Gly373=)
 dbSNP
13g.113149301G=CA2120140442F10c.1251G= (p.Gly417=)
c.*242G= (n.*242G=)
c.1119G= (p.Gly373=)
13g.113149301G>TCA485424109F10c.1251G>T (p.Gly417=)
c.*242G>T (n.*242G>T)
c.1119G>T (p.Gly373=)
13g.113149302G>ACA388793943F10c.1252G>A (p.Asp418Asn)
c.*243G>A (n.*243G>A)
c.1120G>A (p.Asp374Asn)
 COSMIC
13g.113149302G>CCA388793945F10c.1252G>C (p.Asp418His)
c.*243G>C (n.*243G>C)
c.1120G>C (p.Asp374His)
 ClinVar dbSNP
13g.113149302G>TCA388793946F10c.1252G>T (p.Asp418Tyr)
c.*243G>T (n.*243G>T)
c.1120G>T (p.Asp374Tyr)
13g.113149303A>CCA388793950F10c.1253A>C (p.Asp418Ala)
c.*244A>C (n.*244A>C)
c.1121A>C (p.Asp374Ala)
13g.113149303A>GCA388793952F10c.1253A>G (p.Asp418Gly)
c.*244A>G (n.*244A>G)
c.1121A>G (p.Asp374Gly)
13g.113149303A>TCA388793954F10c.1253A>T (p.Asp418Val)
c.*244A>T (n.*244A>T)
c.1121A>T (p.Asp374Val)
13g.113149304C>ACA388793957F10c.1254C>A (p.Asp418Glu)
c.*245C>A (n.*245C>A)
c.1122C>A (p.Asp374Glu)
13g.113149304C>GCA388793960F10c.1254C>G (p.Asp418Glu)
c.*245C>G (n.*245C>G)
c.1122C>G (p.Asp374Glu)
 gnomAD v4
13g.113149304C>TCA485424112F10c.1254C>T (p.Asp418=)
c.*245C>T (n.*245C>T)
c.1122C>T (p.Asp374=)
 gnomAD v4
13g.113149305A>CCA388793968F10c.1255A>C (p.Ser419Arg)
c.*246A>C (n.*246A>C)
c.1123A>C (p.Ser375Arg)
13g.113149305A>GCA388793965F10c.1255A>G (p.Ser419Gly)
c.*246A>G (n.*246A>G)
c.1123A>G (p.Ser375Gly)
13g.113149305A>TCA388793964F10c.1255A>T (p.Ser419Cys)
c.*246A>T (n.*246A>T)
c.1123A>T (p.Ser375Cys)
13g.113149306G>ACA388793971F10c.1256G>A (p.Ser419Asn)
c.*247G>A (n.*247G>A)
c.1124G>A (p.Ser375Asn)
13g.113149306G>CCA388793973F10c.1256G>C (p.Ser419Thr)
c.*247G>C (n.*247G>C)
c.1124G>C (p.Ser375Thr)
13g.113149306G>TCA388793975F10c.1256G>T (p.Ser419Ile)
c.*247G>T (n.*247G>T)
c.1124G>T (p.Ser375Ile)
13g.113149307C>ACA388793978F10c.1257C>A (p.Ser419Arg)
c.*248C>A (n.*248C>A)
c.1125C>A (p.Ser375Arg)
13g.113149307C=CA2120140445F10c.1257C= (p.Ser419=)
c.*248C= (n.*248C=)
c.1125C= (p.Ser375=)
13g.113149307C>GCA388793981F10c.1257C>G (p.Ser419Arg)
c.*248C>G (n.*248C>G)
c.1125C>G (p.Ser375Arg)
13g.113149307C>TCA7060713F10c.1257C>T (p.Ser419=)
c.*248C>T (n.*248C>T)
c.1125C>T (p.Ser375=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149308G>ACA7060714F10c.1258G>A (p.Gly420Arg)
c.*249G>A (n.*249G>A)
c.1126G>A (p.Gly376Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149308G>CCA388793988F10c.1258G>C (p.Gly420Arg)
c.*249G>C (n.*249G>C)
c.1126G>C (p.Gly376Arg)
13g.113149308G=CA2120140447F10c.1258G= (p.Gly420=)
c.*249G= (n.*249G=)
c.1126G= (p.Gly376=)
13g.113149308G>TCA388793991F10c.1258G>T (p.Gly420Trp)
c.*249G>T (n.*249G>T)
c.1126G>T (p.Gly376Trp)
13g.113149312delCA2575514506F10c.1262del (p.Gly421AlafsTer13)
c.*253del (n.*253del)
c.1130del (p.Gly377AlafsTer13)
13g.113149309G>ACA388793994F10c.1259G>A (p.Gly420Glu)
c.*250G>A (n.*250G>A)
c.1127G>A (p.Gly376Glu)
13g.113149309G>CCA388793996F10c.1259G>C (p.Gly420Ala)
c.*250G>C (n.*250G>C)
c.1127G>C (p.Gly376Ala)
13g.113149309G>TCA388793998F10c.1259G>T (p.Gly420Val)
c.*250G>T (n.*250G>T)
c.1127G>T (p.Gly376Val)
13g.113149310G>ACA485424116F10c.1260G>A (p.Gly420=)
c.*251G>A (n.*251G>A)
c.1128G>A (p.Gly376=)
 gnomAD v4
13g.113149310G>CCA485424118F10c.1260G>C (p.Gly420=)
c.*251G>C (n.*251G>C)
c.1128G>C (p.Gly376=)
13g.113149310G>TCA485424120F10c.1260G>T (p.Gly420=)
c.*251G>T (n.*251G>T)
c.1128G>T (p.Gly376=)
13g.113149311G>ACA388794005F10c.1261G>A (p.Gly421Ser)
c.*252G>A (n.*252G>A)
c.1129G>A (p.Gly377Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149311G>CCA388794003F10c.1261G>C (p.Gly421Arg)
c.*252G>C (n.*252G>C)
c.1129G>C (p.Gly377Arg)
13g.113149311G=CA2120140451F10c.1261G= (p.Gly421=)
c.*252G= (n.*252G=)
c.1129G= (p.Gly377=)
13g.113149311G>TCA388794001F10c.1261G>T (p.Gly421Cys)
c.*252G>T (n.*252G>T)
c.1129G>T (p.Gly377Cys)
13g.113149312G>ACA7060715F10c.1262G>A (p.Gly421Asp)
c.*253G>A (n.*253G>A)
c.1130G>A (p.Gly377Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149312G>CCA388794008F10c.1262G>C (p.Gly421Ala)
c.*253G>C (n.*253G>C)
c.1130G>C (p.Gly377Ala)
13g.113149312G=CA2120140455F10c.1262G= (p.Gly421=)
c.*253G= (n.*253G=)
c.1130G= (p.Gly377=)
13g.113149312G>TCA388794010F10c.1262G>T (p.Gly421Val)
c.*253G>T (n.*253G>T)
c.1130G>T (p.Gly377Val)
 dbSNP gnomAD v2 gnomAD v4
13g.113149313C>ACA485424123F10c.1263C>A (p.Gly421=)
c.*254C>A (n.*254C>A)
c.1131C>A (p.Gly377=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149313C=CA2120140461F10c.1263C= (p.Gly421=)
c.*254C= (n.*254C=)
c.1131C= (p.Gly377=)
13g.113149313C>GCA485424125F10c.1263C>G (p.Gly421=)
c.*254C>G (n.*254C>G)
c.1131C>G (p.Gly377=)
13g.113149313C>TCA256478729F10c.1263C>T (p.Gly421=)
c.*254C>T (n.*254C>T)
c.1131C>T (p.Gly377=)
 dbSNP gnomAD v4
13g.113149314C>ACA388794014F10c.1264C>A (p.Pro422Thr)
c.*255C>A (n.*255C>A)
c.1132C>A (p.Pro378Thr)
13g.113149314C=CA2120140464F10c.1264C= (p.Pro422=)
c.*255C= (n.*255C=)
c.1132C= (p.Pro378=)
13g.113149314C>GCA388794017F10c.1264C>G (p.Pro422Ala)
c.*255C>G (n.*255C>G)
c.1132C>G (p.Pro378Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149314C>TCA7060716F10c.1264C>T (p.Pro422Ser)
c.*255C>T (n.*255C>T)
c.1132C>T (p.Pro378Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149315C>ACA388794019F10c.1265C>A (p.Pro422Gln)
c.*256C>A (n.*256C>A)
c.1133C>A (p.Pro378Gln)
13g.113149315C=CA2120140467F10c.1265C= (p.Pro422=)
c.*256C= (n.*256C=)
c.1133C= (p.Pro378=)
13g.113149315C>GCA388794020F10c.1265C>G (p.Pro422Arg)
c.*256C>G (n.*256C>G)
c.1133C>G (p.Pro378Arg)
13g.113149315C>TCA388794022F10c.1265C>T (p.Pro422Leu)
c.*256C>T (n.*256C>T)
c.1133C>T (p.Pro378Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
13g.113149316G>ACA7060717F10c.1266G>A (p.Pro422=)
c.*257G>A (n.*257G>A)
c.1134G>A (p.Pro378=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149316G>CCA485424128F10c.1266G>C (p.Pro422=)
c.*257G>C (n.*257G>C)
c.1134G>C (p.Pro378=)
 gnomAD v4
13g.113149316G=CA2120140472F10c.1266G= (p.Pro422=)
c.*257G= (n.*257G=)
c.1134G= (p.Pro378=)
13g.113149316G>TCA7060718F10c.1266G>T (p.Pro422=)
c.*257G>T (n.*257G>T)
c.1134G>T (p.Pro378=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149317C>ACA388794029F10c.1267C>A (p.His423Asn)
c.*258C>A (n.*258C>A)
c.1135C>A (p.His379Asn)
13g.113149317C>GCA388794027F10c.1267C>G (p.His423Asp)
c.*258C>G (n.*258C>G)
c.1135C>G (p.His379Asp)
13g.113149317C>TCA388794025F10c.1267C>T (p.His423Tyr)
c.*258C>T (n.*258C>T)
c.1135C>T (p.His379Tyr)
 gnomAD v4
13g.113149318A>CCA388794030F10c.1268A>C (p.His423Pro)
c.*259A>C (n.*259A>C)
c.1136A>C (p.His379Pro)
13g.113149318A>GCA388794032F10c.1268A>G (p.His423Arg)
c.*259A>G (n.*259A>G)
c.1136A>G (p.His379Arg)
13g.113149318A>TCA388794033F10c.1268A>T (p.His423Leu)
c.*259A>T (n.*259A>T)
c.1136A>T (p.His379Leu)
13g.113149319C>ACA256478732F10c.1269C>A (p.His423Gln)
c.*260C>A (n.*260C>A)
c.1137C>A (p.His379Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149319C=CA2120140479F10c.1269C= (p.His423=)
c.*260C= (n.*260C=)
c.1137C= (p.His379=)
13g.113149319C>GCA388794036F10c.1269C>G (p.His423Gln)
c.*260C>G (n.*260C>G)
c.1137C>G (p.His379Gln)
13g.113149319C>TCA7060719F10c.1269C>T (p.His423=)
c.*260C>T (n.*260C>T)
c.1137C>T (p.His379=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149320G>ACA7060720F10c.1270G>A (p.Val424Ile)
c.*261G>A (n.*261G>A)
c.1138G>A (p.Val380Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149320G>CCA388794038F10c.1270G>C (p.Val424Leu)
c.*261G>C (n.*261G>C)
c.1138G>C (p.Val380Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.113149320G=CA2120140484F10c.1270G= (p.Val424=)
c.*261G= (n.*261G=)
c.1138G= (p.Val380=)
13g.113149320G>TCA388794039F10c.1270G>T (p.Val424Phe)
c.*261G>T (n.*261G>T)
c.1138G>T (p.Val380Phe)
 dbSNP gnomAD v2 gnomAD v4
13g.113149321T>ACA388794042F10c.1271T>A (p.Val424Asp)
c.*262T>A (n.*262T>A)
c.1139T>A (p.Val380Asp)
13g.113149321T>CCA388794044F10c.1271T>C (p.Val424Ala)
c.*262T>C (n.*262T>C)
c.1139T>C (p.Val380Ala)
13g.113149321T>GCA388794045F10c.1271T>G (p.Val424Gly)
c.*262T>G (n.*262T>G)
c.1139T>G (p.Val380Gly)
13g.113149322C>ACA485424130F10c.1272C>A (p.Val424=)
c.*263C>A (n.*263C>A)
c.1140C>A (p.Val380=)
 gnomAD v4
13g.113149322C>GCA485424132F10c.1272C>G (p.Val424=)
c.*263C>G (n.*263C>G)
c.1140C>G (p.Val380=)
13g.113149322C>TCA485424133F10c.1272C>T (p.Val424=)
c.*263C>T (n.*263C>T)
c.1140C>T (p.Val380=)
13g.113149323A>CCA388794051F10c.1273A>C (p.Thr425Pro)
c.*264A>C (n.*264A>C)
c.1141A>C (p.Thr381Pro)
13g.113149323A>GCA388794050F10c.1273A>G (p.Thr425Ala)
c.*264A>G (n.*264A>G)
c.1141A>G (p.Thr381Ala)
13g.113149323A>TCA388794048F10c.1273A>T (p.Thr425Ser)
c.*264A>T (n.*264A>T)
c.1141A>T (p.Thr381Ser)
13g.113149324C>ACA388794054F10c.1274C>A (p.Thr425Asn)
c.*265C>A (n.*265C>A)
c.1142C>A (p.Thr381Asn)
 gnomAD v4
13g.113149324C>GCA388794058F10c.1274C>G (p.Thr425Ser)
c.*265C>G (n.*265C>G)
c.1142C>G (p.Thr381Ser)
13g.113149324C>TCA388794056F10c.1274C>T (p.Thr425Ile)
c.*265C>T (n.*265C>T)
c.1142C>T (p.Thr381Ile)
13g.113149325C>ACA485424134F10c.1275C>A (p.Thr425=)
c.*266C>A (n.*266C>A)
c.1143C>A (p.Thr381=)
13g.113149325C=CA2120140487F10c.1275C= (p.Thr425=)
c.*266C= (n.*266C=)
c.1143C= (p.Thr381=)
13g.113149325C>GCA256478735F10c.1275C>G (p.Thr425=)
c.*266C>G (n.*266C>G)
c.1143C>G (p.Thr381=)
 dbSNP
13g.113149325C>TCA485424135F10c.1275C>T (p.Thr425=)
c.*266C>T (n.*266C>T)
c.1143C>T (p.Thr381=)
13g.113149326C>ACA388794061F10c.1276C>A (p.Arg426Ser)
c.*267C>A (n.*267C>A)
c.1144C>A (p.Arg382Ser)
13g.113149326C=CA2120140491F10c.1276C= (p.Arg426=)
c.*267C= (n.*267C=)
c.1144C= (p.Arg382=)
13g.113149326C>GCA388794062F10c.1276C>G (p.Arg426Gly)
c.*267C>G (n.*267C>G)
c.1144C>G (p.Arg382Gly)
 dbSNP gnomAD v2 gnomAD v4
13g.113149326C>TCA7060721F10c.1276C>T (p.Arg426Cys)
c.*267C>T (n.*267C>T)
c.1144C>T (p.Arg382Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149327G>ACA7060722F10c.1277G>A (p.Arg426His)
c.*268G>A (n.*268G>A)
c.1145G>A (p.Arg382His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149327G>CCA388794066F10c.1277G>C (p.Arg426Pro)
c.*268G>C (n.*268G>C)
c.1145G>C (p.Arg382Pro)
13g.113149327G=CA2120140493F10c.1277G= (p.Arg426=)
c.*268G= (n.*268G=)
c.1145G= (p.Arg382=)
13g.113149327G>TCA388794068F10c.1277G>T (p.Arg426Leu)
c.*268G>T (n.*268G>T)
c.1145G>T (p.Arg382Leu)
13g.113149328C>ACA485424137F10c.1278C>A (p.Arg426=)
c.*269C>A (n.*269C>A)
c.1146C>A (p.Arg382=)
 gnomAD v3 gnomAD v4
13g.113149328C>GCA485424139F10c.1278C>G (p.Arg426=)
c.*269C>G (n.*269C>G)
c.1146C>G (p.Arg382=)
13g.113149328C>TCA485424138F10c.1278C>T (p.Arg426=)
c.*269C>T (n.*269C>T)
c.1146C>T (p.Arg382=)
13g.113149329T>ACA388794070F10c.1279T>A (p.Phe427Ile)
c.*270T>A (n.*270T>A)
c.1147T>A (p.Phe383Ile)
13g.113149329T>CCA388794073F10c.1279T>C (p.Phe427Leu)
c.*270T>C (n.*270T>C)
c.1147T>C (p.Phe383Leu)
13g.113149329T>GCA388794075F10c.1279T>G (p.Phe427Val)
c.*270T>G (n.*270T>G)
c.1147T>G (p.Phe383Val)
13g.113149330T>ACA388794078F10c.1280T>A (p.Phe427Tyr)
c.*271T>A (n.*271T>A)
c.1148T>A (p.Phe383Tyr)
13g.113149330T>CCA388794080F10c.1280T>C (p.Phe427Ser)
c.*271T>C (n.*271T>C)
c.1148T>C (p.Phe383Ser)
13g.113149330T>GCA388794082F10c.1280T>G (p.Phe427Cys)
c.*271T>G (n.*271T>G)
c.1148T>G (p.Phe383Cys)
13g.113149331C>ACA388794084F10c.1281C>A (p.Phe427Leu)
c.*272C>A (n.*272C>A)
c.1149C>A (p.Phe383Leu)
13g.113149331C>GCA388794086F10c.1281C>G (p.Phe427Leu)
c.*272C>G (n.*272C>G)
c.1149C>G (p.Phe383Leu)
13g.113149331C>TCA485424144F10c.1281C>T (p.Phe427=)
c.*272C>T (n.*272C>T)
c.1149C>T (p.Phe383=)
 gnomAD v4
13g.113149332A>CCA388794089F10c.1282A>C (p.Lys428Gln)
c.*273A>C (n.*273A>C)
c.1150A>C (p.Lys384Gln)
13g.113149332A>GCA388794090F10c.1282A>G (p.Lys428Glu)
c.*273A>G (n.*273A>G)
c.1150A>G (p.Lys384Glu)
13g.113149332A>TCA388794092F10c.1282A>T (p.Lys428Ter)
c.*273A>T (n.*273A>T)
c.1150A>T (p.Lys384Ter)
13g.113149333A>CCA388794093F10c.1283A>C (p.Lys428Thr)
c.*274A>C (n.*274A>C)
c.1151A>C (p.Lys384Thr)
13g.113149333A>GCA388794095F10c.1283A>G (p.Lys428Arg)
c.*274A>G (n.*274A>G)
c.1151A>G (p.Lys384Arg)
13g.113149333A>TCA388794096F10c.1283A>T (p.Lys428Met)
c.*274A>T (n.*274A>T)
c.1151A>T (p.Lys384Met)
13g.113149334G>ACA485424148F10c.1284G>A (p.Lys428=)
c.*275G>A (n.*275G>A)
c.1152G>A (p.Lys384=)
13g.113149334G>CCA388794097F10c.1284G>C (p.Lys428Asn)
c.*275G>C (n.*275G>C)
c.1152G>C (p.Lys384Asn)
13g.113149334G=CA2120140497F10c.1284G= (p.Lys428=)
c.*275G= (n.*275G=)
c.1152G= (p.Lys384=)
13g.113149334G>TCA388794099F10c.1284G>T (p.Lys428Asn)
c.*275G>T (n.*275G>T)
c.1152G>T (p.Lys384Asn)
 dbSNP gnomAD v2
13g.113149335G>ACA388794101F10c.1285G>A (p.Asp429Asn)
c.*276G>A (n.*276G>A)
c.1153G>A (p.Asp385Asn)
 dbSNP gnomAD v2 gnomAD v4
13g.113149335G>CCA388794103F10c.1285G>C (p.Asp429His)
c.*276G>C (n.*276G>C)
c.1153G>C (p.Asp385His)
13g.113149335G=CA2120140499F10c.1285G= (p.Asp429=)
c.*276G= (n.*276G=)
c.1153G= (p.Asp385=)
13g.113149335G>TCA388794105F10c.1285G>T (p.Asp429Tyr)
c.*276G>T (n.*276G>T)
c.1153G>T (p.Asp385Tyr)
13g.113149336A>CCA388794108F10c.1286A>C (p.Asp429Ala)
c.*277A>C (n.*277A>C)
c.1154A>C (p.Asp385Ala)
13g.113149336A>GCA388794111F10c.1286A>G (p.Asp429Gly)
c.*277A>G (n.*277A>G)
c.1154A>G (p.Asp385Gly)
13g.113149336A>TCA388794107F10c.1286A>T (p.Asp429Val)
c.*277A>T (n.*277A>T)
c.1154A>T (p.Asp385Val)
13g.113149337C>ACA388794113F10c.1287C>A (p.Asp429Glu)
c.*278C>A (n.*278C>A)
c.1155C>A (p.Asp385Glu)
13g.113149337C=CA2018046983F10c.1287C= (p.Asp429=)
c.*278C= (n.*278C=)
c.1155C= (p.Asp385=)
13g.113149337C>GCA388794114F10c.1287C>G (p.Asp429Glu)
c.*278C>G (n.*278C>G)
c.1155C>G (p.Asp385Glu)
13g.113149337C>TCA256478738F10c.1287C>T (p.Asp429=)
c.*278C>T (n.*278C>T)
c.1155C>T (p.Asp385=)
 dbSNP
13g.113149338A>CCA388794116F10c.1288A>C (p.Thr430Pro)
c.*279A>C (n.*279A>C)
c.1156A>C (p.Thr386Pro)
13g.113149338A>GCA388794117F10c.1288A>G (p.Thr430Ala)
c.*279A>G (n.*279A>G)
c.1156A>G (p.Thr386Ala)
13g.113149338A>TCA388794118F10c.1288A>T (p.Thr430Ser)
c.*279A>T (n.*279A>T)
c.1156A>T (p.Thr386Ser)
13g.113149339C>ACA388794120F10c.1289C>A (p.Thr430Asn)
c.*280C>A (n.*280C>A)
c.1157C>A (p.Thr386Asn)
13g.113149339C>GCA388794122F10c.1289C>G (p.Thr430Ser)
c.*280C>G (n.*280C>G)
c.1157C>G (p.Thr386Ser)
13g.113149339C>TCA388794124F10c.1289C>T (p.Thr430Ile)
c.*280C>T (n.*280C>T)
c.1157C>T (p.Thr386Ile)
13g.113149340C>ACA485424152F10c.1290C>A (p.Thr430=)
c.*281C>A (n.*281C>A)
c.1158C>A (p.Thr386=)
13g.113149340C>GCA485424153F10c.1290C>G (p.Thr430=)
c.*281C>G (n.*281C>G)
c.1158C>G (p.Thr386=)
13g.113149340C>TCA485424154F10c.1290C>T (p.Thr430=)
c.*281C>T (n.*281C>T)
c.1158C>T (p.Thr386=)
13g.113149341delCA2623810092F10c.1291del (p.Tyr431ThrfsTer3)
c.*282del (n.*282del)
c.1159del (p.Tyr387ThrfsTer3)
 gnomAD v4
13g.113149341T>ACA388794126F10c.1291T>A (p.Tyr431Asn)
c.*282T>A (n.*282T>A)
c.1159T>A (p.Tyr387Asn)
13g.113149341T>CCA256478739F10c.1291T>C (p.Tyr431His)
c.*282T>C (n.*282T>C)
c.1159T>C (p.Tyr387His)
 dbSNP gnomAD v4
13g.113149341T>GCA388794128F10c.1291T>G (p.Tyr431Asp)
c.*282T>G (n.*282T>G)
c.1159T>G (p.Tyr387Asp)
13g.113149341T=CA2120140506F10c.1291T= (p.Tyr431=)
c.*282T= (n.*282T=)
c.1159T= (p.Tyr387=)
13g.113149342_113149345delCA2830665552F10c.1292_1295del (p.Tyr431SerfsTer2)
c.*283_*286del (n.*283_*286del)
c.1160_1163del (p.Tyr387SerfsTer2)
13g.113149342A>CCA388794132F10c.1292A>C (p.Tyr431Ser)
c.*283A>C (n.*283A>C)
c.1160A>C (p.Tyr387Ser)
13g.113149342A>GCA388794133F10c.1292A>G (p.Tyr431Cys)
c.*283A>G (n.*283A>G)
c.1160A>G (p.Tyr387Cys)
 gnomAD v4
13g.113149342A>TCA388794131F10c.1292A>T (p.Tyr431Phe)
c.*283A>T (n.*283A>T)
c.1160A>T (p.Tyr387Phe)
13g.113149343C>ACA388794135F10c.1293C>A (p.Tyr431Ter)
c.*284C>A (n.*284C>A)
c.1161C>A (p.Tyr387Ter)
13g.113149343C=CA2120140510F10c.1293C= (p.Tyr431=)
c.*284C= (n.*284C=)
c.1161C= (p.Tyr387=)
13g.113149343C>GCA388794137F10c.1293C>G (p.Tyr431Ter)
c.*284C>G (n.*284C>G)
c.1161C>G (p.Tyr387Ter)
13g.113149343C>TCA485424159F10c.1293C>T (p.Tyr431=)
c.*284C>T (n.*284C>T)
c.1161C>T (p.Tyr387=)
 dbSNP gnomAD v3 gnomAD v4
13g.113149343_113149344delinsCTCA2120140512F10c.1293_1294delinsCT (p.Tyr431=)
c.*284_*285delinsCT (n.*284_*285delinsCT)
c.1161_1162delinsCT (p.Tyr387=)
13g.113149344T>ACA388794138F10c.1294T>A (p.Phe432Ile)
c.*285T>A (n.*285T>A)
c.1162T>A (p.Phe388Ile)
13g.113149344T>CCA388794139F10c.1294T>C (p.Phe432Leu)
c.*285T>C (n.*285T>C)
c.1162T>C (p.Phe388Leu)
13g.113149344T>GCA388794141F10c.1294T>G (p.Phe432Val)
c.*285T>G (n.*285T>G)
c.1162T>G (p.Phe388Val)
13g.113149345delCA2120140517F10c.1295del (p.Phe432SerfsTer2)
c.*286del (n.*286del)
c.1163del (p.Phe388SerfsTer2)
 dbSNP
13g.113149345T>ACA388794145F10c.1295T>A (p.Phe432Tyr)
c.*286T>A (n.*286T>A)
c.1163T>A (p.Phe388Tyr)
13g.113149345T>CCA388794144F10c.1295T>C (p.Phe432Ser)
c.*286T>C (n.*286T>C)
c.1163T>C (p.Phe388Ser)
13g.113149345T>GCA388794143F10c.1295T>G (p.Phe432Cys)
c.*286T>G (n.*286T>G)
c.1163T>G (p.Phe388Cys)
13g.113149346C>ACA388794147F10c.1296C>A (p.Phe432Leu)
c.*287C>A (n.*287C>A)
c.1164C>A (p.Phe388Leu)
13g.113149346C=CA2120140525F10c.1296C= (p.Phe432=)
c.*287C= (n.*287C=)
c.1164C= (p.Phe388=)
13g.113149346C>GCA7060724F10c.1296C>G (p.Phe432Leu)
c.*287C>G (n.*287C>G)
c.1164C>G (p.Phe388Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149346C>TCA7060723F10c.1296C>T (p.Phe432=)
c.*287C>T (n.*287C>T)
c.1164C>T (p.Phe388=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149347G>ACA7060725F10c.1297G>A (p.Val433Met)
c.*288G>A (n.*288G>A)
c.1165G>A (p.Val389Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149347G>CCA388794150F10c.1297G>C (p.Val433Leu)
c.*288G>C (n.*288G>C)
c.1165G>C (p.Val389Leu)
13g.113149347G=CA2120140528F10c.1297G= (p.Val433=)
c.*288G= (n.*288G=)
c.1165G= (p.Val389=)
13g.113149347G>TCA388794152F10c.1297G>T (p.Val433Leu)
c.*288G>T (n.*288G>T)
c.1165G>T (p.Val389Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149348T>ACA388794157F10c.1298T>A (p.Val433Glu)
c.*289T>A (n.*289T>A)
c.1166T>A (p.Val389Glu)
13g.113149348T>CCA388794155F10c.1298T>C (p.Val433Ala)
c.*289T>C (n.*289T>C)
c.1166T>C (p.Val389Ala)
 gnomAD v4
13g.113149348T>GCA388794154F10c.1298T>G (p.Val433Gly)
c.*289T>G (n.*289T>G)
c.1166T>G (p.Val389Gly)
13g.113149349G>ACA485424162F10c.1299G>A (p.Val433=)
c.*290G>A (n.*290G>A)
c.1167G>A (p.Val389=)
13g.113149349G>CCA485424163F10c.1299G>C (p.Val433=)
c.*290G>C (n.*290G>C)
c.1167G>C (p.Val389=)
13g.113149349G>TCA485424164F10c.1299G>T (p.Val433=)
c.*290G>T (n.*290G>T)
c.1167G>T (p.Val389=)
13g.113149350A>CCA388794158F10c.1300A>C (p.Thr434Pro)
c.*291A>C (n.*291A>C)
c.1168A>C (p.Thr390Pro)
13g.113149350A>GCA388794162F10c.1300A>G (p.Thr434Ala)
c.*291A>G (n.*291A>G)
c.1168A>G (p.Thr390Ala)
13g.113149350A>TCA388794160F10c.1300A>T (p.Thr434Ser)
c.*291A>T (n.*291A>T)
c.1168A>T (p.Thr390Ser)
13g.113149351C>ACA388794164F10c.1301C>A (p.Thr434Lys)
c.*292C>A (n.*292C>A)
c.1169C>A (p.Thr390Lys)
 dbSNP gnomAD v3 gnomAD v4
13g.113149351C=CA2120140531F10c.1301C= (p.Thr434=)
c.*292C= (n.*292C=)
c.1169C= (p.Thr390=)
13g.113149351C>GCA388794167F10c.1301C>G (p.Thr434Arg)
c.*292C>G (n.*292C>G)
c.1169C>G (p.Thr390Arg)
13g.113149351C>TCA388794166F10c.1301C>T (p.Thr434Ile)
c.*292C>T (n.*292C>T)
c.1169C>T (p.Thr390Ile)
13g.113149352A>CCA485424166F10c.1302A>C (p.Thr434=)
c.*293A>C (n.*293A>C)
c.1170A>C (p.Thr390=)
13g.113149352A>GCA485424167F10c.1302A>G (p.Thr434=)
c.*293A>G (n.*293A>G)
c.1170A>G (p.Thr390=)
13g.113149352A>TCA485424168F10c.1302A>T (p.Thr434=)
c.*293A>T (n.*293A>T)
c.1170A>T (p.Thr390=)
13g.113149353G>ACA388794169F10c.1303G>A (p.Gly435Ser)
c.*294G>A (n.*294G>A)
c.1171G>A (p.Gly391Ser)
13g.113149353G>CCA388794171F10c.1303G>C (p.Gly435Arg)
c.*294G>C (n.*294G>C)
c.1171G>C (p.Gly391Arg)
13g.113149353G>TCA388794172F10c.1303G>T (p.Gly435Cys)
c.*294G>T (n.*294G>T)
c.1171G>T (p.Gly391Cys)
13g.113149354G>ACA388794174F10c.1304G>A (p.Gly435Asp)
c.*295G>A (n.*295G>A)
c.1172G>A (p.Gly391Asp)
13g.113149354G>CCA388794176F10c.1304G>C (p.Gly435Ala)
c.*295G>C (n.*295G>C)
c.1172G>C (p.Gly391Ala)
13g.113149354G>TCA388794178F10c.1304G>T (p.Gly435Val)
c.*295G>T (n.*295G>T)
c.1172G>T (p.Gly391Val)
13g.113149355C>ACA485424170F10c.1305C>A (p.Gly435=)
c.*296C>A (n.*296C>A)
c.1173C>A (p.Gly391=)
13g.113149355C=CA2120140532F10c.1305C= (p.Gly435=)
c.*296C= (n.*296C=)
c.1173C= (p.Gly391=)
13g.113149355C>GCA485424171F10c.1305C>G (p.Gly435=)
c.*296C>G (n.*296C>G)
c.1173C>G (p.Gly391=)
 gnomAD v4
13g.113149355C>TCA7060726F10c.1305C>T (p.Gly435=)
c.*296C>T (n.*296C>T)
c.1173C>T (p.Gly391=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149356A>CCA388794181F10c.1306A>C (p.Ile436Leu)
c.*297A>C (n.*297A>C)
c.1174A>C (p.Ile392Leu)
 gnomAD v4
13g.113149356A>GCA388794183F10c.1306A>G (p.Ile436Val)
c.*297A>G (n.*297A>G)
c.1174A>G (p.Ile392Val)
13g.113149356A>TCA388794185F10c.1306A>T (p.Ile436Phe)
c.*297A>T (n.*297A>T)
c.1174A>T (p.Ile392Phe)
13g.113149357T>ACA388794190F10c.1307T>A (p.Ile436Asn)
c.*298T>A (n.*298T>A)
c.1175T>A (p.Ile392Asn)
13g.113149357T>CCA388794188F10c.1307T>C (p.Ile436Thr)
c.*298T>C (n.*298T>C)
c.1175T>C (p.Ile392Thr)
13g.113149357T>GCA388794187F10c.1307T>G (p.Ile436Ser)
c.*298T>G (n.*298T>G)
c.1175T>G (p.Ile392Ser)
13g.113149358C>ACA485424175F10c.1308C>A (p.Ile436=)
c.*299C>A (n.*299C>A)
c.1176C>A (p.Ile392=)
13g.113149358C=CA2120140536F10c.1308C= (p.Ile436=)
c.*299C= (n.*299C=)
c.1176C= (p.Ile392=)
13g.113149358C>GCA388794192F10c.1308C>G (p.Ile436Met)
c.*299C>G (n.*299C>G)
c.1176C>G (p.Ile392Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149358C>TCA7060727F10c.1308C>T (p.Ile436=)
c.*299C>T (n.*299C>T)
c.1176C>T (p.Ile392=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149359G>ACA7060728F10c.1309G>A (p.Val437Ile)
c.*300G>A (n.*300G>A)
c.1177G>A (p.Val393Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149359G>CCA388794195F10c.1309G>C (p.Val437Leu)
c.*300G>C (n.*300G>C)
c.1177G>C (p.Val393Leu)
 COSMIC
13g.113149359G=CA2120140540F10c.1309G= (p.Val437=)
c.*300G= (n.*300G=)
c.1177G= (p.Val393=)
13g.113149359G>TCA388794197F10c.1309G>T (p.Val437Phe)
c.*300G>T (n.*300G>T)
c.1177G>T (p.Val393Phe)
13g.113149360T>ACA388794199F10c.1310T>A (p.Val437Asp)
c.*301T>A (n.*301T>A)
c.1178T>A (p.Val393Asp)
13g.113149360T>CCA388794201F10c.1310T>C (p.Val437Ala)
c.*301T>C (n.*301T>C)
c.1178T>C (p.Val393Ala)
13g.113149360T>GCA388794202F10c.1310T>G (p.Val437Gly)
c.*301T>G (n.*301T>G)
c.1178T>G (p.Val393Gly)
13g.113149361C>ACA485424178F10c.1311C>A (p.Val437=)
c.*302C>A (n.*302C>A)
c.1179C>A (p.Val393=)
13g.113149361C>GCA485424179F10c.1311C>G (p.Val437=)
c.*302C>G (n.*302C>G)
c.1179C>G (p.Val393=)
13g.113149361C>TCA485424180F10c.1311C>T (p.Val437=)
c.*302C>T (n.*302C>T)
c.1179C>T (p.Val393=)
13g.113149362A>CCA388794204F10c.1312A>C (p.Ser438Arg)
c.*303A>C (n.*303A>C)
c.1180A>C (p.Ser394Arg)
13g.113149362A>GCA388794206F10c.1312A>G (p.Ser438Gly)
c.*303A>G (n.*303A>G)
c.1180A>G (p.Ser394Gly)
13g.113149362A>TCA388794208F10c.1312A>T (p.Ser438Cys)
c.*303A>T (n.*303A>T)
c.1180A>T (p.Ser394Cys)
13g.113149362_113149363insCAGCTTCATCATCACCCAGAACATGTTCTGTGCCGCA2623810135F10c.1312_1313insCAGCTTCATCATCACCCAGAACATGTTCTGTGCCG (p.Ser438ThrfsTer41)
c.*303_*304insCAGCTTCATCATCACCCAGAACATGTTCTGTGCCG (n.*303_*304insCAGCTTCATCATCACCCAGAACATGTTCTGTGCCG)
c.1180_1181insCAGCTTCATCATCACCCAGAACATGTTCTGTGCCG (p.Ser394ThrfsTer41)
 gnomAD v4
13g.113149363G>ACA388794212F10c.1313G>A (p.Ser438Asn)
c.*304G>A (n.*304G>A)
c.1181G>A (p.Ser394Asn)
13g.113149363G>CCA388794213F10c.1313G>C (p.Ser438Thr)
c.*304G>C (n.*304G>C)
c.1181G>C (p.Ser394Thr)
13g.113149363G>TCA388794211F10c.1313G>T (p.Ser438Ile)
c.*304G>T (n.*304G>T)
c.1181G>T (p.Ser394Ile)
13g.113149364C>ACA388794216F10c.1314C>A (p.Ser438Arg)
c.*305C>A (n.*305C>A)
c.1182C>A (p.Ser394Arg)
13g.113149364C>GCA388794218F10c.1314C>G (p.Ser438Arg)
c.*305C>G (n.*305C>G)
c.1182C>G (p.Ser394Arg)
13g.113149364C>TCA485424184F10c.1314C>T (p.Ser438=)
c.*305C>T (n.*305C>T)
c.1182C>T (p.Ser394=)
13g.113149365T>ACA388794219F10c.1315T>A (p.Trp439Arg)
c.*306T>A (n.*306T>A)
c.1183T>A (p.Trp395Arg)
13g.113149365T>CCA388794221F10c.1315T>C (p.Trp439Arg)
c.*306T>C (n.*306T>C)
c.1183T>C (p.Trp395Arg)
13g.113149365T>GCA388794223F10c.1315T>G (p.Trp439Gly)
c.*306T>G (n.*306T>G)
c.1183T>G (p.Trp395Gly)
13g.113149366G>ACA388794225F10c.1316G>A (p.Trp439Ter)
c.*307G>A (n.*307G>A)
c.1184G>A (p.Trp395Ter)
13g.113149366G>CCA388794226F10c.1316G>C (p.Trp439Ser)
c.*307G>C (n.*307G>C)
c.1184G>C (p.Trp395Ser)
13g.113149366G>TCA388794227F10c.1316G>T (p.Trp439Leu)
c.*307G>T (n.*307G>T)
c.1184G>T (p.Trp395Leu)
13g.113149366_113149367insTCA2623810140F10c.1316_1317insT (p.Trp439CysfsTer8)
c.*307_*308insT (n.*307_*308insT)
c.1184_1185insT (p.Trp395CysfsTer8)
 gnomAD v4
13g.113149367G>ACA388794228F10c.1317G>A (p.Trp439Ter)
c.*308G>A (n.*308G>A)
c.1185G>A (p.Trp395Ter)
13g.113149367G>CCA388794229F10c.1317G>C (p.Trp439Cys)
c.*308G>C (n.*308G>C)
c.1185G>C (p.Trp395Cys)
13g.113149367G=CA2120140545F10c.1317G= (p.Trp439=)
c.*308G= (n.*308G=)
c.1185G= (p.Trp395=)
13g.113149367G>TCA388794230F10c.1317G>T (p.Trp439Cys)
c.*308G>T (n.*308G>T)
c.1185G>T (p.Trp395Cys)
13g.113149367_113149376delCA2623810142F10c.1317_1326del (p.Trp439CysfsTer25)
c.*308_*317del (n.*308_*317del)
c.1185_1194del (p.Trp395CysfsTer25)
 gnomAD v4
13g.113149367_113149368insTTTTTTTTTTTTAACA612868374F10c.1317_1318insTTTTTTTTTTTTAA (p.Gly440PhefsTer32)
c.*308_*309insTTTTTTTTTTTTAA (n.*308_*309insTTTTTTTTTTTTAA)
c.1185_1186insTTTTTTTTTTTTAA (p.Gly396PhefsTer32)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149368G>ACA388794233F10c.1318G>A (p.Gly440Arg)
c.*309G>A (n.*309G>A)
c.1186G>A (p.Gly396Arg)
13g.113149368G>CCA388794235F10c.1318G>C (p.Gly440Arg)
c.*309G>C (n.*309G>C)
c.1186G>C (p.Gly396Arg)
13g.113149368G=CA2120140549F10c.1318G= (p.Gly440=)
c.*309G= (n.*309G=)
c.1186G= (p.Gly396=)
13g.113149368G>TCA388794231F10c.1318G>T (p.Gly440Ter)
c.*309G>T (n.*309G>T)
c.1186G>T (p.Gly396Ter)
 gnomAD v2 gnomAD v3 gnomAD v4
13g.113149368_113149376delCA2800665256F10c.1318_1326del (p.Gly440_Gly442del)
c.*309_*317del (n.*309_*317del)
c.1186_1194del (p.Gly396_Gly398del)

Number of alleles fetched