Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.219421384_219421393delinsTGCCAGTGAG	CA1329211257	DES	n.542_551delinsTGCCAGTGAG n.456_465delinsTGCCAGTGAG c.1068_1077delinsTGCCAGTGAG (p.Phe356=) n.540_549delinsTGCCAGTGAG n.463_472delinsTGCCAGTGAG c.1065_1074delinsTGCCAGTGAG (p.Phe355=) c.736-100_736-91delinsTGCCAGTGAG (n.736-100_736-91delinsTGCCAGTGAG) c.1024-25_1024-16delinsTGCCAGTGAG (n.1024-25_1024-16delinsTGCCAGTGAG) c.1047_1056delinsTGCCAGTGAG (p.Phe349=) c.798_807delinsTGCCAGTGAG (p.Phe266=)
2	g.219421385G>A	CA350693959	DES	n.543G>A n.457G>A c.1069G>A (p.Ala357Thr) n.541G>A n.464G>A c.1066G>A (p.Ala356Thr) c.736-99G>A (n.736-99G>A) c.1024-24G>A (n.1024-24G>A) c.1048G>A (p.Ala350Thr) c.799G>A (p.Ala267Thr)
2	g.219421385G>C	CA217007	DES	n.543G>C n.457G>C c.1069G>C (p.Ala357Pro) n.541G>C n.464G>C c.1066G>C (p.Ala356Pro) c.736-99G>C (n.736-99G>C) c.1024-24G>C (n.1024-24G>C) c.1048G>C (p.Ala350Pro) c.799G>C (p.Ala267Pro)	ClinVar dbSNP
2	g.219421385G=	CA1329211258	DES	n.543G= n.457G= c.1069G= (p.Ala357=) n.541G= n.464G= c.1066G= (p.Ala356=) c.736-99G= (n.736-99G=) c.1024-24G= (n.1024-24G=) c.1048G= (p.Ala350=) c.799G= (p.Ala267=)
2	g.219421385G>T	CA350693965	DES	n.543G>T n.457G>T c.1069G>T (p.Ala357Ser) n.541G>T n.464G>T c.1066G>T (p.Ala356Ser) c.736-99G>T (n.736-99G>T) c.1024-24G>T (n.1024-24G>T) c.1048G>T (p.Ala350Ser) c.799G>T (p.Ala267Ser)
2	g.219421392_219421400del	CA217009	DES	n.550_558del n.464_472del c.1076_1084del (p.Glu359_Ser361del) n.548_556del n.471_479del c.1073_1081del (p.Glu358_Ser360del) c.736-92_736-84del (n.736-92_736-84del) c.1024-17_1024-9del (n.1024-17_1024-9del) c.1055_1063del (p.Glu352_Ser354del) c.806_814del (p.Glu269_Ser271del)	ClinVar dbSNP
2	g.219421386C>A	CA350693971	DES	n.544C>A n.458C>A c.1070C>A (p.Ala357Asp) n.542C>A n.465C>A c.1067C>A (p.Ala356Asp) c.736-98C>A (n.736-98C>A) c.1024-23C>A (n.1024-23C>A) c.1049C>A (p.Ala350Asp) c.800C>A (p.Ala267Asp)
2	g.219421386C=	CA1329211259	DES	n.544C= n.458C= c.1070C= (p.Ala357=) n.542C= n.465C= c.1067C= (p.Ala356=) c.736-98C= (n.736-98C=) c.1024-23C= (n.1024-23C=) c.1049C= (p.Ala350=) c.800C= (p.Ala267=)
2	g.219421386C>G	CA350693973	DES	n.544C>G n.458C>G c.1070C>G (p.Ala357Gly) n.542C>G n.465C>G c.1067C>G (p.Ala356Gly) c.736-98C>G (n.736-98C>G) c.1024-23C>G (n.1024-23C>G) c.1049C>G (p.Ala350Gly) c.800C>G (p.Ala267Gly)
2	g.219421386C>T	CA65983466	DES	n.544C>T n.458C>T c.1070C>T (p.Ala357Val) n.542C>T n.465C>T c.1067C>T (p.Ala356Val) c.736-98C>T (n.736-98C>T) c.1024-23C>T (n.1024-23C>T) c.1049C>T (p.Ala350Val) c.800C>T (p.Ala267Val)	dbSNP gnomAD v4
2	g.219421387C>A	CA431284241	DES	n.545C>A n.459C>A c.1071C>A (p.Ala357=) n.543C>A n.466C>A c.1068C>A (p.Ala356=) c.736-97C>A (n.736-97C>A) c.1024-22C>A (n.1024-22C>A) c.1050C>A (p.Ala350=) c.801C>A (p.Ala267=)
2	g.219421387C>G	CA431284242	DES	n.545C>G n.459C>G c.1071C>G (p.Ala357=) n.543C>G n.466C>G c.1068C>G (p.Ala356=) c.736-97C>G (n.736-97C>G) c.1024-22C>G (n.1024-22C>G) c.1050C>G (p.Ala350=) c.801C>G (p.Ala267=)
2	g.219421387C>T	CA431284244	DES	n.545C>T n.459C>T c.1071C>T (p.Ala357=) n.543C>T n.466C>T c.1068C>T (p.Ala356=) c.736-97C>T (n.736-97C>T) c.1024-22C>T (n.1024-22C>T) c.1050C>T (p.Ala350=) c.801C>T (p.Ala267=)	dbSNP
2	g.219421388A>C	CA350693983	DES	n.546A>C n.460A>C c.1072A>C (p.Ser358Arg) n.544A>C n.467A>C c.1069A>C (p.Ser357Arg) c.736-96A>C (n.736-96A>C) c.1024-21A>C (n.1024-21A>C) c.1051A>C (p.Ser351Arg) c.802A>C (p.Ser268Arg)
2	g.219421388A>G	CA350693986	DES	n.546A>G n.460A>G c.1072A>G (p.Ser358Gly) n.544A>G n.467A>G c.1069A>G (p.Ser357Gly) c.736-96A>G (n.736-96A>G) c.1024-21A>G (n.1024-21A>G) c.1051A>G (p.Ser351Gly) c.802A>G (p.Ser268Gly)
2	g.219421388A>T	CA350693980	DES	n.546A>T n.460A>T c.1072A>T (p.Ser358Cys) n.544A>T n.467A>T c.1069A>T (p.Ser357Cys) c.736-96A>T (n.736-96A>T) c.1024-21A>T (n.1024-21A>T) c.1051A>T (p.Ser351Cys) c.802A>T (p.Ser268Cys)
2	g.219421389G>A	CA350693992	DES	n.547G>A n.461G>A c.1073G>A (p.Ser358Asn) n.545G>A n.468G>A c.1070G>A (p.Ser357Asn) c.736-95G>A (n.736-95G>A) c.1024-20G>A (n.1024-20G>A) c.1052G>A (p.Ser351Asn) c.803G>A (p.Ser268Asn)	gnomAD v4
2	g.219421389G>C	CA350693997	DES	n.547G>C n.461G>C c.1073G>C (p.Ser358Thr) n.545G>C n.468G>C c.1070G>C (p.Ser357Thr) c.736-95G>C (n.736-95G>C) c.1024-20G>C (n.1024-20G>C) c.1052G>C (p.Ser351Thr) c.803G>C (p.Ser268Thr)	gnomAD v4
2	g.219421389G>T	CA350693995	DES	n.547G>T n.461G>T c.1073G>T (p.Ser358Ile) n.545G>T n.468G>T c.1070G>T (p.Ser357Ile) c.736-95G>T (n.736-95G>T) c.1024-20G>T (n.1024-20G>T) c.1052G>T (p.Ser351Ile) c.803G>T (p.Ser268Ile)	ClinVar gnomAD v4
2	g.219421390T>A	CA350694001	DES	n.548T>A n.462T>A c.1074T>A (p.Ser358Arg) n.546T>A n.469T>A c.1071T>A (p.Ser357Arg) c.736-94T>A (n.736-94T>A) c.1024-19T>A (n.1024-19T>A) c.1053T>A (p.Ser351Arg) c.804T>A (p.Ser268Arg)
2	g.219421390T>C	CA431284249	DES	n.548T>C n.462T>C c.1074T>C (p.Ser358=) n.546T>C n.469T>C c.1071T>C (p.Ser357=) c.736-94T>C (n.736-94T>C) c.1024-19T>C (n.1024-19T>C) c.1053T>C (p.Ser351=) c.804T>C (p.Ser268=)	dbSNP
2	g.219421390T>G	CA350694004	DES	n.548T>G n.462T>G c.1074T>G (p.Ser358Arg) n.546T>G n.469T>G c.1071T>G (p.Ser357Arg) c.736-94T>G (n.736-94T>G) c.1024-19T>G (n.1024-19T>G) c.1053T>G (p.Ser351Arg) c.804T>G (p.Ser268Arg)
2	g.219421390T=	CA1329211260	DES	n.548T= n.462T= c.1074T= (p.Ser358=) n.546T= n.469T= c.1071T= (p.Ser357=) c.736-94T= (n.736-94T=) c.1024-19T= (n.1024-19T=) c.1053T= (p.Ser351=) c.804T= (p.Ser268=)
2	g.219421391G>A	CA350694007	DES	n.549G>A n.463G>A c.1075G>A (p.Glu359Lys) n.547G>A n.470G>A c.1072G>A (p.Glu358Lys) c.736-93G>A (n.736-93G>A) c.1024-18G>A (n.1024-18G>A) c.1054G>A (p.Glu352Lys) c.805G>A (p.Glu269Lys)
2	g.219421391G>C	CA350694009	DES	n.549G>C n.463G>C c.1075G>C (p.Glu359Gln) n.547G>C n.470G>C c.1072G>C (p.Glu358Gln) c.736-93G>C (n.736-93G>C) c.1024-18G>C (n.1024-18G>C) c.1054G>C (p.Glu352Gln) c.805G>C (p.Glu269Gln)
2	g.219421391G>T	CA350694012	DES	n.549G>T n.463G>T c.1075G>T (p.Glu359Ter) n.547G>T n.470G>T c.1072G>T (p.Glu358Ter) c.736-93G>T (n.736-93G>T) c.1024-18G>T (n.1024-18G>T) c.1054G>T (p.Glu352Ter) c.805G>T (p.Glu269Ter)
2	g.219421392A>C	CA350694016	DES	n.550A>C n.464A>C c.1076A>C (p.Glu359Ala) n.548A>C n.471A>C c.1073A>C (p.Glu358Ala) c.736-92A>C (n.736-92A>C) c.1024-17A>C (n.1024-17A>C) c.1055A>C (p.Glu352Ala) c.806A>C (p.Glu269Ala)
2	g.219421392A>G	CA350694018	DES	n.550A>G n.464A>G c.1076A>G (p.Glu359Gly) n.548A>G n.471A>G c.1073A>G (p.Glu358Gly) c.736-92A>G (n.736-92A>G) c.1024-17A>G (n.1024-17A>G) c.1055A>G (p.Glu352Gly) c.806A>G (p.Glu269Gly)	gnomAD v4
2	g.219421392A>T	CA350694021	DES	n.550A>T n.464A>T c.1076A>T (p.Glu359Val) n.548A>T n.471A>T c.1073A>T (p.Glu358Val) c.736-92A>T (n.736-92A>T) c.1024-17A>T (n.1024-17A>T) c.1055A>T (p.Glu352Val) c.806A>T (p.Glu269Val)
2	g.219421393G>A	CA65983481	DES	n.551G>A n.465G>A c.1077G>A (p.Glu359=) n.549G>A n.472G>A c.1074G>A (p.Glu358=) c.736-91G>A (n.736-91G>A) c.1024-16G>A (n.1024-16G>A) c.1056G>A (p.Glu352=) c.807G>A (p.Glu269=)	dbSNP gnomAD v4
2	g.219421393G>C	CA350694029	DES	n.551G>C n.465G>C c.1077G>C (p.Glu359Asp) n.549G>C n.472G>C c.1074G>C (p.Glu358Asp) c.736-91G>C (n.736-91G>C) c.1024-16G>C (n.1024-16G>C) c.1056G>C (p.Glu352Asp) c.807G>C (p.Glu269Asp)
2	g.219421393G=	CA1329211261	DES	n.551G= n.465G= c.1077G= (p.Glu359=) n.549G= n.472G= c.1074G= (p.Glu358=) c.736-91G= (n.736-91G=) c.1024-16G= (n.1024-16G=) c.1056G= (p.Glu352=) c.807G= (p.Glu269=)
2	g.219421393G>T	CA350694031	DES	n.551G>T n.465G>T c.1077G>T (p.Glu359Asp) n.549G>T n.472G>T c.1074G>T (p.Glu358Asp) c.736-91G>T (n.736-91G>T) c.1024-16G>T (n.1024-16G>T) c.1056G>T (p.Glu352Asp) c.807G>T (p.Glu269Asp)
2	g.219421393_219421401dup	CA2586971383	DES	n.551_559dup n.465_473dup c.1077_1085dup (p.Gly362_Tyr363insAlaSerGly) n.549_557dup n.472_480dup c.1074_1082dup (p.Gly361_Tyr362insAlaSerGly) c.736-91_736-83dup (n.736-91_736-83dup) c.1024-16_1024-8dup (n.1024-16_1024-8dup) c.1056_1064dup (p.Gly355_Tyr356insAlaSerGly) c.807_815dup (p.Gly272_Tyr273insAlaSerGly)
2	g.219421394G>A	CA350694036	DES	n.552G>A n.466G>A c.1078G>A (p.Ala360Thr) n.550G>A n.473G>A c.1075G>A (p.Ala359Thr) c.736-90G>A (n.736-90G>A) c.1024-15G>A (n.1024-15G>A) c.1057G>A (p.Ala353Thr) c.808G>A (p.Ala270Thr)
2	g.219421394G>C	CA257642	DES	n.552G>C n.466G>C c.1078G>C (p.Ala360Pro) n.550G>C n.473G>C c.1075G>C (p.Ala359Pro) c.736-90G>C (n.736-90G>C) c.1024-15G>C (n.1024-15G>C) c.1057G>C (p.Ala353Pro) c.808G>C (p.Ala270Pro)	ClinVar dbSNP
2	g.219421394G=	CA1329211262	DES	n.552G= n.466G= c.1078G= (p.Ala360=) n.550G= n.473G= c.1075G= (p.Ala359=) c.736-90G= (n.736-90G=) c.1024-15G= (n.1024-15G=) c.1057G= (p.Ala353=) c.808G= (p.Ala270=)
2	g.219421394G>T	CA350694040	DES	n.552G>T n.466G>T c.1078G>T (p.Ala360Ser) n.550G>T n.473G>T c.1075G>T (p.Ala359Ser) c.736-90G>T (n.736-90G>T) c.1024-15G>T (n.1024-15G>T) c.1057G>T (p.Ala353Ser) c.808G>T (p.Ala270Ser)	ClinVar dbSNP gnomAD v4
2	g.219421395C>A	CA350694045	DES	n.553C>A n.467C>A c.1079C>A (p.Ala360Asp) n.551C>A n.474C>A c.1076C>A (p.Ala359Asp) c.736-89C>A (n.736-89C>A) c.1024-14C>A (n.1024-14C>A) c.1058C>A (p.Ala353Asp) c.809C>A (p.Ala270Asp)
2	g.219421395C=	CA1329211263	DES	n.553C= n.467C= c.1079C= (p.Ala360=) n.551C= n.474C= c.1076C= (p.Ala359=) c.736-89C= (n.736-89C=) c.1024-14C= (n.1024-14C=) c.1058C= (p.Ala353=) c.809C= (p.Ala270=)
2	g.219421395C>G	CA350694048	DES	n.553C>G n.467C>G c.1079C>G (p.Ala360Gly) n.551C>G n.474C>G c.1076C>G (p.Ala359Gly) c.736-89C>G (n.736-89C>G) c.1024-14C>G (n.1024-14C>G) c.1058C>G (p.Ala353Gly) c.809C>G (p.Ala270Gly)
2	g.219421395C>T	CA2125236	DES	n.553C>T n.467C>T c.1079C>T (p.Ala360Val) n.551C>T n.474C>T c.1076C>T (p.Ala359Val) c.736-89C>T (n.736-89C>T) c.1024-14C>T (n.1024-14C>T) c.1058C>T (p.Ala353Val) c.809C>T (p.Ala270Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219421396C>A	CA431284265	DES	n.554C>A n.468C>A c.1080C>A (p.Ala360=) n.552C>A n.475C>A c.1077C>A (p.Ala359=) c.736-88C>A (n.736-88C>A) c.1024-13C>A (n.1024-13C>A) c.1059C>A (p.Ala353=) c.810C>A (p.Ala270=)
2	g.219421396C>G	CA431284267	DES	n.554C>G n.468C>G c.1080C>G (p.Ala360=) n.552C>G n.475C>G c.1077C>G (p.Ala359=) c.736-88C>G (n.736-88C>G) c.1024-13C>G (n.1024-13C>G) c.1059C>G (p.Ala353=) c.810C>G (p.Ala270=)
2	g.219421396C>T	CA431284266	DES	n.554C>T n.468C>T c.1080C>T (p.Ala360=) n.552C>T n.475C>T c.1077C>T (p.Ala359=) c.736-88C>T (n.736-88C>T) c.1024-13C>T (n.1024-13C>T) c.1059C>T (p.Ala353=) c.810C>T (p.Ala270=)	COSMIC
2	g.219421397A>C	CA350694052	DES	n.555A>C n.469A>C c.1081A>C (p.Ser361Arg) n.553A>C n.476A>C c.1078A>C (p.Ser360Arg) c.736-87A>C (n.736-87A>C) c.1024-12A>C (n.1024-12A>C) c.1060A>C (p.Ser354Arg) c.811A>C (p.Ser271Arg)
2	g.219421397A>G	CA350694055	DES	n.555A>G n.469A>G c.1081A>G (p.Ser361Gly) n.553A>G n.476A>G c.1078A>G (p.Ser360Gly) c.736-87A>G (n.736-87A>G) c.1024-12A>G (n.1024-12A>G) c.1060A>G (p.Ser354Gly) c.811A>G (p.Ser271Gly)	gnomAD v4
2	g.219421397A>T	CA350694058	DES	n.555A>T n.469A>T c.1081A>T (p.Ser361Cys) n.553A>T n.476A>T c.1078A>T (p.Ser360Cys) c.736-87A>T (n.736-87A>T) c.1024-12A>T (n.1024-12A>T) c.1060A>T (p.Ser354Cys) c.811A>T (p.Ser271Cys)
2	g.219421398G>A	CA350694062	DES	n.556G>A n.470G>A c.1082G>A (p.Ser361Asn) n.554G>A n.477G>A c.1079G>A (p.Ser360Asn) c.736-86G>A (n.736-86G>A) c.1024-11G>A (n.1024-11G>A) c.1061G>A (p.Ser354Asn) c.812G>A (p.Ser271Asn)
2	g.219421398G>C	CA350694064	DES	n.556G>C n.470G>C c.1082G>C (p.Ser361Thr) n.554G>C n.477G>C c.1079G>C (p.Ser360Thr) c.736-86G>C (n.736-86G>C) c.1024-11G>C (n.1024-11G>C) c.1061G>C (p.Ser354Thr) c.812G>C (p.Ser271Thr)
2	g.219421398G>T	CA350694067	DES	n.556G>T n.470G>T c.1082G>T (p.Ser361Ile) n.554G>T n.477G>T c.1079G>T (p.Ser360Ile) c.736-86G>T (n.736-86G>T) c.1024-11G>T (n.1024-11G>T) c.1061G>T (p.Ser354Ile) c.812G>T (p.Ser271Ile)
2	g.219421399T>A	CA350694070	DES	n.557T>A n.471T>A c.1083T>A (p.Ser361Arg) n.555T>A n.478T>A c.1080T>A (p.Ser360Arg) c.736-85T>A (n.736-85T>A) c.1024-10T>A (n.1024-10T>A) c.1062T>A (p.Ser354Arg) c.813T>A (p.Ser271Arg)
2	g.219421399T>C	CA431284274	DES	n.557T>C n.471T>C c.1083T>C (p.Ser361=) n.555T>C n.478T>C c.1080T>C (p.Ser360=) c.736-85T>C (n.736-85T>C) c.1024-10T>C (n.1024-10T>C) c.1062T>C (p.Ser354=) c.813T>C (p.Ser271=)
2	g.219421399T>G	CA350694072	DES	n.557T>G n.471T>G c.1083T>G (p.Ser361Arg) n.555T>G n.478T>G c.1080T>G (p.Ser360Arg) c.736-85T>G (n.736-85T>G) c.1024-10T>G (n.1024-10T>G) c.1062T>G (p.Ser354Arg) c.813T>G (p.Ser271Arg)
2	g.219421400G>A	CA350694076	DES	n.558G>A n.472G>A c.1084G>A (p.Gly362Ser) n.556G>A n.479G>A c.1081G>A (p.Gly361Ser) c.736-84G>A (n.736-84G>A) c.1024-9G>A (n.1024-9G>A) c.1063G>A (p.Gly355Ser) c.814G>A (p.Gly272Ser)
2	g.219421400G>C	CA350694082	DES	n.558G>C n.472G>C c.1084G>C (p.Gly362Arg) n.556G>C n.479G>C c.1081G>C (p.Gly361Arg) c.736-84G>C (n.736-84G>C) c.1024-9G>C (n.1024-9G>C) c.1063G>C (p.Gly355Arg) c.814G>C (p.Gly272Arg)
2	g.219421400G>T	CA350694078	DES	n.558G>T n.472G>T c.1084G>T (p.Gly362Cys) n.556G>T n.479G>T c.1081G>T (p.Gly361Cys) c.736-84G>T (n.736-84G>T) c.1024-9G>T (n.1024-9G>T) c.1063G>T (p.Gly355Cys) c.814G>T (p.Gly272Cys)
2	g.219421401G>A	CA350694085	DES	n.559G>A n.473G>A c.1085G>A (p.Gly362Asp) n.557G>A n.480G>A c.1082G>A (p.Gly361Asp) c.736-83G>A (n.736-83G>A) c.1024-8G>A (n.1024-8G>A) c.1064G>A (p.Gly355Asp) c.815G>A (p.Gly272Asp)	ClinVar gnomAD v4
2	g.219421401G>C	CA350694088	DES	n.559G>C n.473G>C c.1085G>C (p.Gly362Ala) n.557G>C n.480G>C c.1082G>C (p.Gly361Ala) c.736-83G>C (n.736-83G>C) c.1024-8G>C (n.1024-8G>C) c.1064G>C (p.Gly355Ala) c.815G>C (p.Gly272Ala)
2	g.219421401G>T	CA350694086	DES	n.559G>T n.473G>T c.1085G>T (p.Gly362Val) n.557G>T n.480G>T c.1082G>T (p.Gly361Val) c.736-83G>T (n.736-83G>T) c.1024-8G>T (n.1024-8G>T) c.1064G>T (p.Gly355Val) c.815G>T (p.Gly272Val)
2	g.219421402C>A	CA431284279	DES	n.560C>A n.474C>A c.1086C>A (p.Gly362=) n.558C>A n.481C>A c.1083C>A (p.Gly361=) c.736-82C>A (n.736-82C>A) c.1024-7C>A (n.1024-7C>A) c.1065C>A (p.Gly355=) c.816C>A (p.Gly272=)
2	g.219421402C>G	CA431284280	DES	n.560C>G n.474C>G c.1086C>G (p.Gly362=) n.558C>G n.481C>G c.1083C>G (p.Gly361=) c.736-82C>G (n.736-82C>G) c.1024-7C>G (n.1024-7C>G) c.1065C>G (p.Gly355=) c.816C>G (p.Gly272=)
2	g.219421402C>T	CA431284281	DES	n.560C>T n.474C>T c.1086C>T (p.Gly362=) n.558C>T n.481C>T c.1083C>T (p.Gly361=) c.736-82C>T (n.736-82C>T) c.1024-7C>T (n.1024-7C>T) c.1065C>T (p.Gly355=) c.816C>T (p.Gly272=)
2	g.219421403T>A	CA350694091	DES	n.561T>A n.475T>A c.1087T>A (p.Tyr363Asn) n.559T>A n.482T>A c.1084T>A (p.Tyr362Asn) c.736-81T>A (n.736-81T>A) c.1024-6T>A (n.1024-6T>A) c.1066T>A (p.Tyr356Asn) c.817T>A (p.Tyr273Asn)
2	g.219421403T>C	CA350694093	DES	n.561T>C n.475T>C c.1087T>C (p.Tyr363His) n.559T>C n.482T>C c.1084T>C (p.Tyr362His) c.736-81T>C (n.736-81T>C) c.1024-6T>C (n.1024-6T>C) c.1066T>C (p.Tyr356His) c.817T>C (p.Tyr273His)	gnomAD v4
2	g.219421403T>G	CA350694097	DES	n.561T>G n.475T>G c.1087T>G (p.Tyr363Asp) n.559T>G n.482T>G c.1084T>G (p.Tyr362Asp) c.736-81T>G (n.736-81T>G) c.1024-6T>G (n.1024-6T>G) c.1066T>G (p.Tyr356Asp) c.817T>G (p.Tyr273Asp)
2	g.219421404A>C	CA350694102	DES	n.562A>C n.476A>C c.1088A>C (p.Tyr363Ser) n.560A>C n.483A>C c.1085A>C (p.Tyr362Ser) c.736-80A>C (n.736-80A>C) c.1024-5A>C (n.1024-5A>C) c.1067A>C (p.Tyr356Ser) c.818A>C (p.Tyr273Ser)
2	g.219421404A>G	CA350694104	DES	n.562A>G n.476A>G c.1088A>G (p.Tyr363Cys) n.560A>G n.483A>G c.1085A>G (p.Tyr362Cys) c.736-80A>G (n.736-80A>G) c.1024-5A>G (n.1024-5A>G) c.1067A>G (p.Tyr356Cys) c.818A>G (p.Tyr273Cys)
2	g.219421404A>T	CA350694106	DES	n.562A>T n.476A>T c.1088A>T (p.Tyr363Phe) n.560A>T n.483A>T c.1085A>T (p.Tyr362Phe) c.736-80A>T (n.736-80A>T) c.1024-5A>T (n.1024-5A>T) c.1067A>T (p.Tyr356Phe) c.818A>T (p.Tyr273Phe)
2	g.219421404_219421422delinsACCAGGACAACATTGCGCG	CA1329211264	DES	n.562_580delinsACCAGGACAACATTGCGCG n.476_494delinsACCAGGACAACATTGCGCG c.1088_1106delinsACCAGGACAACATTGCGCG (p.Tyr363=) n.560_578delinsACCAGGACAACATTGCGCG n.483_501delinsACCAGGACAACATTGCGCG c.1085_1103delinsACCAGGACAACATTGCGCG (p.Tyr362=) c.736-80_736-62delinsACCAGGACAACATTGCGCG (n.736-80_736-62delinsACCAGGACAACATTGCGCG) c.1024-5_1037delinsACCAGGACAACATTGCGCG c.1067_1085delinsACCAGGACAACATTGCGCG (p.Tyr356=) c.818_836delinsACCAGGACAACATTGCGCG (p.Tyr273=)
2	g.219421405C>A	CA2125237	DES	n.563C>A n.477C>A c.1089C>A (p.Tyr363Ter) n.561C>A n.484C>A c.1086C>A (p.Tyr362Ter) c.736-79C>A (n.736-79C>A) c.1024-4C>A (n.1024-4C>A) c.1068C>A (p.Tyr356Ter) c.819C>A (p.Tyr273Ter)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219421405C=	CA1329211265	DES	n.563C= n.477C= c.1089C= (p.Tyr363=) n.561C= n.484C= c.1086C= (p.Tyr362=) c.736-79C= (n.736-79C=) c.1024-4C= (n.1024-4C=) c.1068C= (p.Tyr356=) c.819C= (p.Tyr273=)
2	g.219421405C>G	CA350694112	DES	n.563C>G n.477C>G c.1089C>G (p.Tyr363Ter) n.561C>G n.484C>G c.1086C>G (p.Tyr362Ter) c.736-79C>G (n.736-79C>G) c.1024-4C>G (n.1024-4C>G) c.1068C>G (p.Tyr356Ter) c.819C>G (p.Tyr273Ter)
2	g.219421405C>T	CA431284286	DES	n.563C>T n.477C>T c.1089C>T (p.Tyr363=) n.561C>T n.484C>T c.1086C>T (p.Tyr362=) c.736-79C>T (n.736-79C>T) c.1024-4C>T (n.1024-4C>T) c.1068C>T (p.Tyr356=) c.819C>T (p.Tyr273=)	dbSNP gnomAD v4
2	g.219421407_219421424del	CA915941734	DES	n.565_582del n.479_496del c.1091_1108del (p.Gln364_Arg369del) n.563_580del n.486_503del c.1088_1105del (p.Gln363_Arg368del) c.736-77_736-60del (n.736-77_736-60del) c.1024-2_1039del c.1070_1087del (p.Gln357_Arg362del) c.821_838del (p.Gln274_Arg279del)	ClinVar dbSNP
2	g.219421406C>A	CA350694116	DES	n.564C>A n.478C>A c.1090C>A (p.Gln364Lys) n.562C>A n.485C>A c.1087C>A (p.Gln363Lys) c.736-78C>A (n.736-78C>A) c.1024-3C>A (n.1024-3C>A) c.1069C>A (p.Gln357Lys) c.820C>A (p.Gln274Lys)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219421406C=	CA1329211266	DES	n.564C= n.478C= c.1090C= (p.Gln364=) n.562C= n.485C= c.1087C= (p.Gln363=) c.736-78C= (n.736-78C=) c.1024-3C= (n.1024-3C=) c.1069C= (p.Gln357=) c.820C= (p.Gln274=)
2	g.219421406C>G	CA350694119	DES	n.564C>G n.478C>G c.1090C>G (p.Gln364Glu) n.562C>G n.485C>G c.1087C>G (p.Gln363Glu) c.736-78C>G (n.736-78C>G) c.1024-3C>G (n.1024-3C>G) c.1069C>G (p.Gln357Glu) c.820C>G (p.Gln274Glu)
2	g.219421406C>T	CA350694122	DES	n.564C>T n.478C>T c.1090C>T (p.Gln364Ter) n.562C>T n.485C>T c.1087C>T (p.Gln363Ter) c.736-78C>T (n.736-78C>T) c.1024-3C>T (n.1024-3C>T) c.1069C>T (p.Gln357Ter) c.820C>T (p.Gln274Ter)	ClinVar dbSNP
2	g.219421407A>C	CA350694132	DES	n.565A>C n.479A>C c.1091A>C (p.Gln364Pro) n.563A>C n.486A>C c.1088A>C (p.Gln363Pro) c.736-77A>C (n.736-77A>C) c.1024-2A>C (n.1024-2A>C) c.1070A>C (p.Gln357Pro) c.821A>C (p.Gln274Pro)
2	g.219421407A>G	CA350694125	DES	n.565A>G n.479A>G c.1091A>G (p.Gln364Arg) n.563A>G n.486A>G c.1088A>G (p.Gln363Arg) c.736-77A>G (n.736-77A>G) c.1024-2A>G (n.1024-2A>G) c.1070A>G (p.Gln357Arg) c.821A>G (p.Gln274Arg)	gnomAD v4
2	g.219421407A>T	CA350694128	DES	n.565A>T n.479A>T c.1091A>T (p.Gln364Leu) n.563A>T n.486A>T c.1088A>T (p.Gln363Leu) c.736-77A>T (n.736-77A>T) c.1024-2A>T (n.1024-2A>T) c.1070A>T (p.Gln357Leu) c.821A>T (p.Gln274Leu)
2	g.219421408G>A	CA431284291	DES	n.566G>A n.480G>A c.1092G>A (p.Gln364=) n.564G>A n.487G>A c.1089G>A (p.Gln363=) c.736-76G>A (n.736-76G>A) c.1024-1G>A (n.1024-1G>A) c.1071G>A (p.Gln357=) c.822G>A (p.Gln274=)
2	g.219421408G>C	CA350694135	DES	n.566G>C n.480G>C c.1092G>C (p.Gln364His) n.564G>C n.487G>C c.1089G>C (p.Gln363His) c.736-76G>C (n.736-76G>C) c.1024-1G>C (n.1024-1G>C) c.1071G>C (p.Gln357His) c.822G>C (p.Gln274His)
2	g.219421408G>T	CA350694138	DES	n.566G>T n.480G>T c.1092G>T (p.Gln364His) n.564G>T n.487G>T c.1089G>T (p.Gln363His) c.736-76G>T (n.736-76G>T) c.1024-1G>T (n.1024-1G>T) c.1071G>T (p.Gln357His) c.822G>T (p.Gln274His)	ClinVar
2	g.219421409G>A	CA350694140	DES	n.567G>A n.481G>A c.1093G>A (p.Asp365Asn) n.565G>A n.488G>A c.1090G>A (p.Asp364Asn) c.736-75G>A (n.736-75G>A) c.1024G>A (p.Asp342Asn) c.1072G>A (p.Asp358Asn) c.823G>A (p.Asp275Asn)
2	g.219421409G>C	CA350694143	DES	n.567G>C n.481G>C c.1093G>C (p.Asp365His) n.565G>C n.488G>C c.1090G>C (p.Asp364His) c.736-75G>C (n.736-75G>C) c.1024G>C (p.Asp342His) c.1072G>C (p.Asp358His) c.823G>C (p.Asp275His)	ClinVar dbSNP gnomAD v4
2	g.219421409G=	CA1329211268	DES	n.567G= n.481G= c.1093G= (p.Asp365=) n.565G= n.488G= c.1090G= (p.Asp364=) c.736-75G= (n.736-75G=) c.1024G= (p.Asp342=) c.1072G= (p.Asp358=) c.823G= (p.Asp275=)
2	g.219421409G>T	CA350694151	DES	n.567G>T n.481G>T c.1093G>T (p.Asp365Tyr) n.565G>T n.488G>T c.1090G>T (p.Asp364Tyr) c.736-75G>T (n.736-75G>T) c.1024G>T (p.Asp342Tyr) c.1072G>T (p.Asp358Tyr) c.823G>T (p.Asp275Tyr)
2	g.219421409_219421412delinsGACA	CA1329211267	DES	n.567_570delinsGACA n.481_484delinsGACA c.1093_1096delinsGACA (p.Asp365=) n.565_568delinsGACA n.488_491delinsGACA c.1090_1093delinsGACA (p.Asp364=) c.736-75_736-72delinsGACA (n.736-75_736-72delinsGACA) c.1024_1027delinsGACA (p.Asp342=) c.1072_1075delinsGACA (p.Asp358=) c.823_826delinsGACA (p.Asp275=)
2	g.219421410A=	CA1329211269	DES	n.568A= n.482A= c.1094A= (p.Asp365=) n.566A= n.489A= c.1091A= (p.Asp364=) c.736-74A= (n.736-74A=) c.1025A= (p.Asp342=) c.1073A= (p.Asp358=) c.824A= (p.Asp275=)
2	g.219421410A>C	CA350694158	DES	n.568A>C n.482A>C c.1094A>C (p.Asp365Ala) n.566A>C n.489A>C c.1091A>C (p.Asp364Ala) c.736-74A>C (n.736-74A>C) c.1025A>C (p.Asp342Ala) c.1073A>C (p.Asp358Ala) c.824A>C (p.Asp275Ala)
2	g.219421410A>G	CA350694164	DES	n.568A>G n.482A>G c.1094A>G (p.Asp365Gly) n.566A>G n.489A>G c.1091A>G (p.Asp364Gly) c.736-74A>G (n.736-74A>G) c.1025A>G (p.Asp342Gly) c.1073A>G (p.Asp358Gly) c.824A>G (p.Asp275Gly)
2	g.219421410A>T	CA2125238	DES	n.568A>T n.482A>T c.1094A>T (p.Asp365Val) n.566A>T n.489A>T c.1091A>T (p.Asp364Val) c.736-74A>T (n.736-74A>T) c.1025A>T (p.Asp342Val) c.1073A>T (p.Asp358Val) c.824A>T (p.Asp275Val)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219421413_219421415del	CA217012	DES	n.571_573del n.485_487del c.1097_1099del (p.Asn366del) n.569_571del n.492_494del c.1094_1096del (p.Asn365del) c.736-71_736-69del (n.736-71_736-69del) c.1028_1030del (p.Asn343del) c.1076_1078del (p.Asn359del) c.827_829del (p.Asn276del)	ClinVar dbSNP
2	g.219421411C>A	CA350694173	DES	n.569C>A n.483C>A c.1095C>A (p.Asp365Glu) n.567C>A n.490C>A c.1092C>A (p.Asp364Glu) c.736-73C>A (n.736-73C>A) c.1026C>A (p.Asp342Glu) c.1074C>A (p.Asp358Glu) c.825C>A (p.Asp275Glu)
2	g.219421411C>G	CA350694175	DES	n.569C>G n.483C>G c.1095C>G (p.Asp365Glu) n.567C>G n.490C>G c.1092C>G (p.Asp364Glu) c.736-73C>G (n.736-73C>G) c.1026C>G (p.Asp342Glu) c.1074C>G (p.Asp358Glu) c.825C>G (p.Asp275Glu)
2	g.219421411C>T	CA431284304	DES	n.569C>T n.483C>T c.1095C>T (p.Asp365=) n.567C>T n.490C>T c.1092C>T (p.Asp364=) c.736-73C>T (n.736-73C>T) c.1026C>T (p.Asp342=) c.1074C>T (p.Asp358=) c.825C>T (p.Asp275=)
2	g.219421412A>C	CA350694182	DES	n.570A>C n.484A>C c.1096A>C (p.Asn366His) n.568A>C n.491A>C c.1093A>C (p.Asn365His) c.736-72A>C (n.736-72A>C) c.1027A>C (p.Asn343His) c.1075A>C (p.Asn359His) c.826A>C (p.Asn276His)
2	g.219421412A>G	CA350694186	DES	n.570A>G n.484A>G c.1096A>G (p.Asn366Asp) n.568A>G n.491A>G c.1093A>G (p.Asn365Asp) c.736-72A>G (n.736-72A>G) c.1027A>G (p.Asn343Asp) c.1075A>G (p.Asn359Asp) c.826A>G (p.Asn276Asp)	ClinVar gnomAD v4
2	g.219421412A>T	CA350694180	DES	n.570A>T n.484A>T c.1096A>T (p.Asn366Tyr) n.568A>T n.491A>T c.1093A>T (p.Asn365Tyr) c.736-72A>T (n.736-72A>T) c.1027A>T (p.Asn343Tyr) c.1075A>T (p.Asn359Tyr) c.826A>T (p.Asn276Tyr)
2	g.219421413A=	CA1329211270	DES	n.571A= n.485A= c.1097A= (p.Asn366=) n.569A= n.492A= c.1094A= (p.Asn365=) c.736-71A= (n.736-71A=) c.1028A= (p.Asn343=) c.1076A= (p.Asn359=) c.827A= (p.Asn276=)
2	g.219421413A>C	CA350694191	DES	n.571A>C n.485A>C c.1097A>C (p.Asn366Thr) n.569A>C n.492A>C c.1094A>C (p.Asn365Thr) c.736-71A>C (n.736-71A>C) c.1028A>C (p.Asn343Thr) c.1076A>C (p.Asn359Thr) c.827A>C (p.Asn276Thr)
2	g.219421413A>G	CA350694194	DES	n.571A>G n.485A>G c.1097A>G (p.Asn366Ser) n.569A>G n.492A>G c.1094A>G (p.Asn365Ser) c.736-71A>G (n.736-71A>G) c.1028A>G (p.Asn343Ser) c.1076A>G (p.Asn359Ser) c.827A>G (p.Asn276Ser)	ClinVar dbSNP gnomAD v4
2	g.219421413A>T	CA350694197	DES	n.571A>T n.485A>T c.1097A>T (p.Asn366Ile) n.569A>T n.492A>T c.1094A>T (p.Asn365Ile) c.736-71A>T (n.736-71A>T) c.1028A>T (p.Asn343Ile) c.1076A>T (p.Asn359Ile) c.827A>T (p.Asn276Ile)
2	g.219421414C>A	CA350694201	DES	n.572C>A n.486C>A c.1098C>A (p.Asn366Lys) n.570C>A n.493C>A c.1095C>A (p.Asn365Lys) c.736-70C>A (n.736-70C>A) c.1029C>A (p.Asn343Lys) c.1077C>A (p.Asn359Lys) c.828C>A (p.Asn276Lys)
2	g.219421414C>G	CA350694205	DES	n.572C>G n.486C>G c.1098C>G (p.Asn366Lys) n.570C>G n.493C>G c.1095C>G (p.Asn365Lys) c.736-70C>G (n.736-70C>G) c.1029C>G (p.Asn343Lys) c.1077C>G (p.Asn359Lys) c.828C>G (p.Asn276Lys)
2	g.219421414C>T	CA431284314	DES	n.572C>T n.486C>T c.1098C>T (p.Asn366=) n.570C>T n.493C>T c.1095C>T (p.Asn365=) c.736-70C>T (n.736-70C>T) c.1029C>T (p.Asn343=) c.1077C>T (p.Asn359=) c.828C>T (p.Asn276=)
2	g.219421415A=	CA1329211271	DES	n.573A= n.487A= c.1099A= (p.Ile367=) n.571A= n.494A= c.1096A= (p.Ile366=) c.736-69A= (n.736-69A=) c.1030A= (p.Ile344=) c.1078A= (p.Ile360=) c.829A= (p.Ile277=)
2	g.219421415A>C	CA2125239	DES	n.573A>C n.487A>C c.1099A>C (p.Ile367Leu) n.571A>C n.494A>C c.1096A>C (p.Ile366Leu) c.736-69A>C (n.736-69A>C) c.1030A>C (p.Ile344Leu) c.1078A>C (p.Ile360Leu) c.829A>C (p.Ile277Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219421415A>G	CA2125240	DES	n.573A>G n.487A>G c.1099A>G (p.Ile367Val) n.571A>G n.494A>G c.1096A>G (p.Ile366Val) c.736-69A>G (n.736-69A>G) c.1030A>G (p.Ile344Val) c.1078A>G (p.Ile360Val) c.829A>G (p.Ile277Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219421415A>T	CA217015	DES	n.573A>T n.487A>T c.1099A>T (p.Ile367Phe) n.571A>T n.494A>T c.1096A>T (p.Ile366Phe) c.736-69A>T (n.736-69A>T) c.1030A>T (p.Ile344Phe) c.1078A>T (p.Ile360Phe) c.829A>T (p.Ile277Phe)	ClinVar dbSNP
2	g.219421416T>A	CA350694216	DES	n.574T>A n.488T>A c.1100T>A (p.Ile367Asn) n.572T>A n.495T>A c.1097T>A (p.Ile366Asn) c.736-68T>A (n.736-68T>A) c.1031T>A (p.Ile344Asn) c.1079T>A (p.Ile360Asn) c.830T>A (p.Ile277Asn)
2	g.219421416T>C	CA350694218	DES	n.574T>C n.488T>C c.1100T>C (p.Ile367Thr) n.572T>C n.495T>C c.1097T>C (p.Ile366Thr) c.736-68T>C (n.736-68T>C) c.1031T>C (p.Ile344Thr) c.1079T>C (p.Ile360Thr) c.830T>C (p.Ile277Thr)	ClinVar dbSNP gnomAD v4
2	g.219421416T>G	CA350694220	DES	n.574T>G n.488T>G c.1100T>G (p.Ile367Ser) n.572T>G n.495T>G c.1097T>G (p.Ile366Ser) c.736-68T>G (n.736-68T>G) c.1031T>G (p.Ile344Ser) c.1079T>G (p.Ile360Ser) c.830T>G (p.Ile277Ser)
2	g.219421416T=	CA1329211272	DES	n.574T= n.488T= c.1100T= (p.Ile367=) n.572T= n.495T= c.1097T= (p.Ile366=) c.736-68T= (n.736-68T=) c.1031T= (p.Ile344=) c.1079T= (p.Ile360=) c.830T= (p.Ile277=)
2	g.219421417T>A	CA431284321	DES	n.575T>A n.489T>A c.1101T>A (p.Ile367=) n.573T>A n.496T>A c.1098T>A (p.Ile366=) c.736-67T>A (n.736-67T>A) c.1032T>A (p.Ile344=) c.1080T>A (p.Ile360=) c.831T>A (p.Ile277=)
2	g.219421417T>C	CA431284322	DES	n.575T>C n.489T>C c.1101T>C (p.Ile367=) n.573T>C n.496T>C c.1098T>C (p.Ile366=) c.736-67T>C (n.736-67T>C) c.1032T>C (p.Ile344=) c.1080T>C (p.Ile360=) c.831T>C (p.Ile277=)	ClinVar dbSNP
2	g.219421417T>G	CA350694224	DES	n.575T>G n.489T>G c.1101T>G (p.Ile367Met) n.573T>G n.496T>G c.1098T>G (p.Ile366Met) c.736-67T>G (n.736-67T>G) c.1032T>G (p.Ile344Met) c.1080T>G (p.Ile360Met) c.831T>G (p.Ile277Met)
2	g.219421417T=	CA1329211273	DES	n.575T= n.489T= c.1101T= (p.Ile367=) n.573T= n.496T= c.1098T= (p.Ile366=) c.736-67T= (n.736-67T=) c.1032T= (p.Ile344=) c.1080T= (p.Ile360=) c.831T= (p.Ile277=)
2	g.219421418G>A	CA350694234	DES	n.576G>A n.490G>A c.1102G>A (p.Ala368Thr) n.574G>A n.497G>A c.1099G>A (p.Ala367Thr) c.736-66G>A (n.736-66G>A) c.1033G>A (p.Ala345Thr) c.1081G>A (p.Ala361Thr) c.832G>A (p.Ala278Thr)
2	g.219421418G>C	CA350694228	DES	n.576G>C n.490G>C c.1102G>C (p.Ala368Pro) n.574G>C n.497G>C c.1099G>C (p.Ala367Pro) c.736-66G>C (n.736-66G>C) c.1033G>C (p.Ala345Pro) c.1081G>C (p.Ala361Pro) c.832G>C (p.Ala278Pro)
2	g.219421418G>T	CA350694231	DES	n.576G>T n.490G>T c.1102G>T (p.Ala368Ser) n.574G>T n.497G>T c.1099G>T (p.Ala367Ser) c.736-66G>T (n.736-66G>T) c.1033G>T (p.Ala345Ser) c.1081G>T (p.Ala361Ser) c.832G>T (p.Ala278Ser)
2	g.219421419C>A	CA350694239	DES	n.577C>A n.491C>A c.1103C>A (p.Ala368Glu) n.575C>A n.498C>A c.1100C>A (p.Ala367Glu) c.736-65C>A (n.736-65C>A) c.1034C>A (p.Ala345Glu) c.1082C>A (p.Ala361Glu) c.833C>A (p.Ala278Glu)	COSMIC
2	g.219421419C=	CA1329211274	DES	n.577C= n.491C= c.1103C= (p.Ala368=) n.575C= n.498C= c.1100C= (p.Ala367=) c.736-65C= (n.736-65C=) c.1034C= (p.Ala345=) c.1082C= (p.Ala361=) c.833C= (p.Ala278=)
2	g.219421419C>G	CA350694242	DES	n.577C>G n.491C>G c.1103C>G (p.Ala368Gly) n.575C>G n.498C>G c.1100C>G (p.Ala367Gly) c.736-65C>G (n.736-65C>G) c.1034C>G (p.Ala345Gly) c.1082C>G (p.Ala361Gly) c.833C>G (p.Ala278Gly)
2	g.219421419C>T	CA2125241	DES	n.577C>T n.491C>T c.1103C>T (p.Ala368Val) n.575C>T n.498C>T c.1100C>T (p.Ala367Val) c.736-65C>T (n.736-65C>T) c.1034C>T (p.Ala345Val) c.1082C>T (p.Ala361Val) c.833C>T (p.Ala278Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.219421419_219421420delinsTA	CA2573135386	DES	n.577_578delinsTA n.491_492delinsTA c.1103_1104delinsTA (p.Ala368Val) n.575_576delinsTA n.498_499delinsTA c.1100_1101delinsTA (p.Ala367Val) c.736-65_736-64delinsTA (n.736-65_736-64delinsTA) c.1034_1035delinsTA (p.Ala345Val) c.1082_1083delinsTA (p.Ala361Val) c.833_834delinsTA (p.Ala278Val)	ClinVar dbSNP
2	g.219421420G>A	CA133811	DES	n.578G>A n.492G>A c.1104G>A (p.Ala368=) n.576G>A n.499G>A c.1101G>A (p.Ala367=) c.736-64G>A (n.736-64G>A) c.1035G>A (p.Ala345=) c.1083G>A (p.Ala361=) c.834G>A (p.Ala278=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219421420G>C	CA431284328	DES	n.578G>C n.492G>C c.1104G>C (p.Ala368=) n.576G>C n.499G>C c.1101G>C (p.Ala367=) c.736-64G>C (n.736-64G>C) c.1035G>C (p.Ala345=) c.1083G>C (p.Ala361=) c.834G>C (p.Ala278=)	dbSNP
2	g.219421420G=	CA1329211275	DES	n.578G= n.492G= c.1104G= (p.Ala368=) n.576G= n.499G= c.1101G= (p.Ala367=) c.736-64G= (n.736-64G=) c.1035G= (p.Ala345=) c.1083G= (p.Ala361=) c.834G= (p.Ala278=)
2	g.219421420G>T	CA431284330	DES	n.578G>T n.492G>T c.1104G>T (p.Ala368=) n.576G>T n.499G>T c.1101G>T (p.Ala367=) c.736-64G>T (n.736-64G>T) c.1035G>T (p.Ala345=) c.1083G>T (p.Ala361=) c.834G>T (p.Ala278=)
2	g.219421420_219421421delinsAT	CA2573135387	DES	n.578_579delinsAT n.492_493delinsAT c.1104_1105delinsAT (p.Arg369Cys) n.576_577delinsAT n.499_500delinsAT c.1101_1102delinsAT (p.Arg368Cys) c.736-64_736-63delinsAT (n.736-64_736-63delinsAT) c.1035_1036delinsAT (p.Arg346Cys) c.1083_1084delinsAT (p.Arg362Cys) c.834_835delinsAT (p.Arg279Cys)	ClinVar dbSNP
2	g.219421421C>A	CA350694250	DES	n.579C>A n.493C>A c.1105C>A (p.Arg369Ser) n.577C>A n.500C>A c.1102C>A (p.Arg368Ser) c.736-63C>A (n.736-63C>A) c.1036C>A (p.Arg346Ser) c.1084C>A (p.Arg362Ser) c.835C>A (p.Arg279Ser)
2	g.219421421C=	CA1329211276	DES	n.579C= n.493C= c.1105C= (p.Arg369=) n.577C= n.500C= c.1102C= (p.Arg368=) c.736-63C= (n.736-63C=) c.1036C= (p.Arg346=) c.1084C= (p.Arg362=) c.835C= (p.Arg279=)
2	g.219421421C>G	CA350694253	DES	n.579C>G n.493C>G c.1105C>G (p.Arg369Gly) n.577C>G n.500C>G c.1102C>G (p.Arg368Gly) c.736-63C>G (n.736-63C>G) c.1036C>G (p.Arg346Gly) c.1084C>G (p.Arg362Gly) c.835C>G (p.Arg279Gly)
2	g.219421421C>T	CA350694256	DES	n.579C>T n.493C>T c.1105C>T (p.Arg369Cys) n.577C>T n.500C>T c.1102C>T (p.Arg368Cys) c.736-63C>T (n.736-63C>T) c.1036C>T (p.Arg346Cys) c.1084C>T (p.Arg362Cys) c.835C>T (p.Arg279Cys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219421422G>A	CA350694257	DES	n.580G>A n.494G>A c.1106G>A (p.Arg369His) n.578G>A n.501G>A c.1103G>A (p.Arg368His) c.736-62G>A (n.736-62G>A) c.1037G>A (p.Arg346His) c.1085G>A (p.Arg362His) c.836G>A (p.Arg279His)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.219421422G>C	CA350694258	DES	n.580G>C n.494G>C c.1106G>C (p.Arg369Pro) n.578G>C n.501G>C c.1103G>C (p.Arg368Pro) c.736-62G>C (n.736-62G>C) c.1037G>C (p.Arg346Pro) c.1085G>C (p.Arg362Pro) c.836G>C (p.Arg279Pro)
2	g.219421422G=	CA1329211277	DES	n.580G= n.494G= c.1106G= (p.Arg369=) n.578G= n.501G= c.1103G= (p.Arg368=) c.736-62G= (n.736-62G=) c.1037G= (p.Arg346=) c.1085G= (p.Arg362=) c.836G= (p.Arg279=)
2	g.219421422G>T	CA350694260	DES	n.580G>T n.494G>T c.1106G>T (p.Arg369Leu) n.578G>T n.501G>T c.1103G>T (p.Arg368Leu) c.736-62G>T (n.736-62G>T) c.1037G>T (p.Arg346Leu) c.1085G>T (p.Arg362Leu) c.836G>T (p.Arg279Leu)	ClinVar dbSNP gnomAD v4
2	g.219421423C>A	CA2125242	DES	n.581C>A n.495C>A c.1107C>A (p.Arg369=) n.579C>A n.502C>A c.1104C>A (p.Arg368=) c.736-61C>A (n.736-61C>A) c.1038C>A (p.Arg346=) c.1086C>A (p.Arg362=) c.837C>A (p.Arg279=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219421423C=	CA1329211278	DES	n.581C= n.495C= c.1107C= (p.Arg369=) n.579C= n.502C= c.1104C= (p.Arg368=) c.736-61C= (n.736-61C=) c.1038C= (p.Arg346=) c.1086C= (p.Arg362=) c.837C= (p.Arg279=)
2	g.219421423C>G	CA431284337	DES	n.581C>G n.495C>G c.1107C>G (p.Arg369=) n.579C>G n.502C>G c.1104C>G (p.Arg368=) c.736-61C>G (n.736-61C>G) c.1038C>G (p.Arg346=) c.1086C>G (p.Arg362=) c.837C>G (p.Arg279=)
2	g.219421423C>T	CA431284339	DES	n.581C>T n.495C>T c.1107C>T (p.Arg369=) n.579C>T n.502C>T c.1104C>T (p.Arg368=) c.736-61C>T (n.736-61C>T) c.1038C>T (p.Arg346=) c.1086C>T (p.Arg362=) c.837C>T (p.Arg279=)
2	g.219421424C>A	CA350694266	DES	n.582C>A n.496C>A c.1108C>A (p.Leu370Met) n.580C>A n.503C>A c.1105C>A (p.Leu369Met) c.736-60C>A (n.736-60C>A) c.1039C>A (p.Leu347Met) c.1087C>A (p.Leu363Met) c.838C>A (p.Leu280Met)
2	g.219421424C>G	CA350694268	DES	n.582C>G n.496C>G c.1108C>G (p.Leu370Val) n.580C>G n.503C>G c.1105C>G (p.Leu369Val) c.736-60C>G (n.736-60C>G) c.1039C>G (p.Leu347Val) c.1087C>G (p.Leu363Val) c.838C>G (p.Leu280Val)
2	g.219421424C>T	CA431284342	DES	n.582C>T n.496C>T c.1108C>T (p.Leu370=) n.580C>T n.503C>T c.1105C>T (p.Leu369=) c.736-60C>T (n.736-60C>T) c.1039C>T (p.Leu347=) c.1087C>T (p.Leu363=) c.838C>T (p.Leu280=)
2	g.219421425T>A	CA350694276	DES	n.583T>A n.497T>A c.1109T>A (p.Leu370Gln) n.581T>A n.504T>A c.1106T>A (p.Leu369Gln) c.736-59T>A (n.736-59T>A) c.1040T>A (p.Leu347Gln) c.1088T>A (p.Leu363Gln) c.839T>A (p.Leu280Gln)
2	g.219421425T>C	CA217018	DES	n.583T>C n.497T>C c.1109T>C (p.Leu370Pro) n.581T>C n.504T>C c.1106T>C (p.Leu369Pro) c.736-59T>C (n.736-59T>C) c.1040T>C (p.Leu347Pro) c.1088T>C (p.Leu363Pro) c.839T>C (p.Leu280Pro)	ClinVar dbSNP
2	g.219421425T>G	CA350694273	DES	n.583T>G n.497T>G c.1109T>G (p.Leu370Arg) n.581T>G n.504T>G c.1106T>G (p.Leu369Arg) c.736-59T>G (n.736-59T>G) c.1040T>G (p.Leu347Arg) c.1088T>G (p.Leu363Arg) c.839T>G (p.Leu280Arg)
2	g.219421425T=	CA1329211279	DES	n.583T= n.497T= c.1109T= (p.Leu370=) n.581T= n.504T= c.1106T= (p.Leu369=) c.736-59T= (n.736-59T=) c.1040T= (p.Leu347=) c.1088T= (p.Leu363=) c.839T= (p.Leu280=)
2	g.219421426G>A	CA431284351	DES	n.584G>A n.498G>A c.1110G>A (p.Leu370=) n.582G>A n.505G>A c.1107G>A (p.Leu369=) c.736-58G>A (n.736-58G>A) c.1041G>A (p.Leu347=) c.1089G>A (p.Leu363=) c.840G>A (p.Leu280=)
2	g.219421426G>C	CA431284350	DES	n.584G>C n.498G>C c.1110G>C (p.Leu370=) n.582G>C n.505G>C c.1107G>C (p.Leu369=) c.736-58G>C (n.736-58G>C) c.1041G>C (p.Leu347=) c.1089G>C (p.Leu363=) c.840G>C (p.Leu280=)
2	g.219421426G>T	CA431284349	DES	n.584G>T n.498G>T c.1110G>T (p.Leu370=) n.582G>T n.505G>T c.1107G>T (p.Leu369=) c.736-58G>T (n.736-58G>T) c.1041G>T (p.Leu347=) c.1089G>T (p.Leu363=) c.840G>T (p.Leu280=)
2	g.219421432_219421434del	CA2580616706	DES	n.590_592del n.504_506del c.1116_1118del (p.Glu373del) n.588_590del n.511_513del c.1113_1115del (p.Glu372del) c.736-52_736-50del (n.736-52_736-50del) c.1047_1049del (p.Glu350del) c.1095_1097del (p.Glu366del) c.846_848del (p.Glu283del)	ClinVar dbSNP
2	g.219421427G>A	CA350694284	DES	n.585G>A n.499G>A c.1111G>A (p.Glu371Lys) n.583G>A n.506G>A c.1108G>A (p.Glu370Lys) c.736-57G>A (n.736-57G>A) c.1042G>A (p.Glu348Lys) c.1090G>A (p.Glu364Lys) c.841G>A (p.Glu281Lys)
2	g.219421427G>C	CA350694281	DES	n.585G>C n.499G>C c.1111G>C (p.Glu371Gln) n.583G>C n.506G>C c.1108G>C (p.Glu370Gln) c.736-57G>C (n.736-57G>C) c.1042G>C (p.Glu348Gln) c.1090G>C (p.Glu364Gln) c.841G>C (p.Glu281Gln)
2	g.219421427G>T	CA350694286	DES	n.585G>T n.499G>T c.1111G>T (p.Glu371Ter) n.583G>T n.506G>T c.1108G>T (p.Glu370Ter) c.736-57G>T (n.736-57G>T) c.1042G>T (p.Glu348Ter) c.1090G>T (p.Glu364Ter) c.841G>T (p.Glu281Ter)	gnomAD v4
2	g.219421428A>C	CA350694290	DES	n.586A>C n.500A>C c.1112A>C (p.Glu371Ala) n.584A>C n.507A>C c.1109A>C (p.Glu370Ala) c.736-56A>C (n.736-56A>C) c.1043A>C (p.Glu348Ala) c.1091A>C (p.Glu364Ala) c.842A>C (p.Glu281Ala)
2	g.219421428A>G	CA350694296	DES	n.586A>G n.500A>G c.1112A>G (p.Glu371Gly) n.584A>G n.507A>G c.1109A>G (p.Glu370Gly) c.736-56A>G (n.736-56A>G) c.1043A>G (p.Glu348Gly) c.1091A>G (p.Glu364Gly) c.842A>G (p.Glu281Gly)
2	g.219421428A>T	CA350694293	DES	n.586A>T n.500A>T c.1112A>T (p.Glu371Val) n.584A>T n.507A>T c.1109A>T (p.Glu370Val) c.736-56A>T (n.736-56A>T) c.1043A>T (p.Glu348Val) c.1091A>T (p.Glu364Val) c.842A>T (p.Glu281Val)
2	g.219421429G>A	CA431284357	DES	n.587G>A n.501G>A c.1113G>A (p.Glu371=) n.585G>A n.508G>A c.1110G>A (p.Glu370=) c.736-55G>A (n.736-55G>A) c.1044G>A (p.Glu348=) c.1092G>A (p.Glu364=) c.843G>A (p.Glu281=)
2	g.219421429G>C	CA350694299	DES	n.587G>C n.501G>C c.1113G>C (p.Glu371Asp) n.585G>C n.508G>C c.1110G>C (p.Glu370Asp) c.736-55G>C (n.736-55G>C) c.1044G>C (p.Glu348Asp) c.1092G>C (p.Glu364Asp) c.843G>C (p.Glu281Asp)
2	g.219421429G>T	CA350694302	DES	n.587G>T n.501G>T c.1113G>T (p.Glu371Asp) n.585G>T n.508G>T c.1110G>T (p.Glu370Asp) c.736-55G>T (n.736-55G>T) c.1044G>T (p.Glu348Asp) c.1092G>T (p.Glu364Asp) c.843G>T (p.Glu281Asp)
2	g.219421430G>A	CA350694306	DES	n.588G>A n.502G>A c.1114G>A (p.Glu372Lys) n.586G>A n.509G>A c.1111G>A (p.Glu371Lys) c.736-54G>A (n.736-54G>A) c.1045G>A (p.Glu349Lys) c.1093G>A (p.Glu365Lys) c.844G>A (p.Glu282Lys)	COSMIC
2	g.219421430G>C	CA350694310	DES	n.588G>C n.502G>C c.1114G>C (p.Glu372Gln) n.586G>C n.509G>C c.1111G>C (p.Glu371Gln) c.736-54G>C (n.736-54G>C) c.1045G>C (p.Glu349Gln) c.1093G>C (p.Glu365Gln) c.844G>C (p.Glu282Gln)
2	g.219421430G>T	CA350694308	DES	n.588G>T n.502G>T c.1114G>T (p.Glu372Ter) n.586G>T n.509G>T c.1111G>T (p.Glu371Ter) c.736-54G>T (n.736-54G>T) c.1045G>T (p.Glu349Ter) c.1093G>T (p.Glu365Ter) c.844G>T (p.Glu282Ter)
2	g.219421431A>C	CA350694313	DES	n.589A>C n.503A>C c.1115A>C (p.Glu372Ala) n.587A>C n.510A>C c.1112A>C (p.Glu371Ala) c.736-53A>C (n.736-53A>C) c.1046A>C (p.Glu349Ala) c.1094A>C (p.Glu365Ala) c.845A>C (p.Glu282Ala)
2	g.219421431A>G	CA350694322	DES	n.589A>G n.503A>G c.1115A>G (p.Glu372Gly) n.587A>G n.510A>G c.1112A>G (p.Glu371Gly) c.736-53A>G (n.736-53A>G) c.1046A>G (p.Glu349Gly) c.1094A>G (p.Glu365Gly) c.845A>G (p.Glu282Gly)
2	g.219421431A>T	CA350694324	DES	n.589A>T n.503A>T c.1115A>T (p.Glu372Val) n.587A>T n.510A>T c.1112A>T (p.Glu371Val) c.736-53A>T (n.736-53A>T) c.1046A>T (p.Glu349Val) c.1094A>T (p.Glu365Val) c.845A>T (p.Glu282Val)
2	g.219421432G>A	CA2125243	DES	n.590G>A n.504G>A c.1116G>A (p.Glu372=) n.588G>A n.511G>A c.1113G>A (p.Glu371=) c.736-52G>A (n.736-52G>A) c.1047G>A (p.Glu349=) c.1095G>A (p.Glu365=) c.846G>A (p.Glu282=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219421432G>C	CA350694328	DES	n.590G>C n.504G>C c.1116G>C (p.Glu372Asp) n.588G>C n.511G>C c.1113G>C (p.Glu371Asp) c.736-52G>C (n.736-52G>C) c.1047G>C (p.Glu349Asp) c.1095G>C (p.Glu365Asp) c.846G>C (p.Glu282Asp)
2	g.219421432G=	CA1329211280	DES	n.590G= n.504G= c.1116G= (p.Glu372=) n.588G= n.511G= c.1113G= (p.Glu371=) c.736-52G= (n.736-52G=) c.1047G= (p.Glu349=) c.1095G= (p.Glu365=) c.846G= (p.Glu282=)
2	g.219421432G>T	CA350694331	DES	n.590G>T n.504G>T c.1116G>T (p.Glu372Asp) n.588G>T n.511G>T c.1113G>T (p.Glu371Asp) c.736-52G>T (n.736-52G>T) c.1047G>T (p.Glu349Asp) c.1095G>T (p.Glu365Asp) c.846G>T (p.Glu282Asp)
2	g.219421433G>A	CA2125244	DES	n.591G>A n.505G>A c.1117G>A (p.Glu373Lys) n.589G>A n.512G>A c.1114G>A (p.Glu372Lys) c.736-51G>A (n.736-51G>A) c.1048G>A (p.Glu350Lys) c.1096G>A (p.Glu366Lys) c.847G>A (p.Glu283Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219421433G>C	CA350694336	DES	n.591G>C n.505G>C c.1117G>C (p.Glu373Gln) n.589G>C n.512G>C c.1114G>C (p.Glu372Gln) c.736-51G>C (n.736-51G>C) c.1048G>C (p.Glu350Gln) c.1096G>C (p.Glu366Gln) c.847G>C (p.Glu283Gln)
2	g.219421433G=	CA1329211281	DES	n.591G= n.505G= c.1117G= (p.Glu373=) n.589G= n.512G= c.1114G= (p.Glu372=) c.736-51G= (n.736-51G=) c.1048G= (p.Glu350=) c.1096G= (p.Glu366=) c.847G= (p.Glu283=)
2	g.219421433G>T	CA350694339	DES	n.591G>T n.505G>T c.1117G>T (p.Glu373Ter) n.589G>T n.512G>T c.1114G>T (p.Glu372Ter) c.736-51G>T (n.736-51G>T) c.1048G>T (p.Glu350Ter) c.1096G>T (p.Glu366Ter) c.847G>T (p.Glu283Ter)
2	g.219421434A>C	CA350694344	DES	n.592A>C n.506A>C c.1118A>C (p.Glu373Ala) n.590A>C n.513A>C c.1115A>C (p.Glu372Ala) c.736-50A>C (n.736-50A>C) c.1049A>C (p.Glu350Ala) c.1097A>C (p.Glu366Ala) c.848A>C (p.Glu283Ala)	ClinVar gnomAD v4
2	g.219421434A>G	CA350694346	DES	n.592A>G n.506A>G c.1118A>G (p.Glu373Gly) n.590A>G n.513A>G c.1115A>G (p.Glu372Gly) c.736-50A>G (n.736-50A>G) c.1049A>G (p.Glu350Gly) c.1097A>G (p.Glu366Gly) c.848A>G (p.Glu283Gly)
2	g.219421434A>T	CA350694349	DES	n.592A>T n.506A>T c.1118A>T (p.Glu373Val) n.590A>T n.513A>T c.1115A>T (p.Glu372Val) c.736-50A>T (n.736-50A>T) c.1049A>T (p.Glu350Val) c.1097A>T (p.Glu366Val) c.848A>T (p.Glu283Val)
2	g.219421435A=	CA1329211282	DES	n.593A= n.507A= c.1119A= (p.Glu373=) n.591A= n.514A= c.1116A= (p.Glu372=) c.736-49A= (n.736-49A=) c.1050A= (p.Glu350=) c.1098A= (p.Glu366=) c.849A= (p.Glu283=)
2	g.219421435A>C	CA350694351	DES	n.593A>C n.507A>C c.1119A>C (p.Glu373Asp) n.591A>C n.514A>C c.1116A>C (p.Glu372Asp) c.736-49A>C (n.736-49A>C) c.1050A>C (p.Glu350Asp) c.1098A>C (p.Glu366Asp) c.849A>C (p.Glu283Asp)	ClinVar dbSNP
2	g.219421435A>G	CA431284371	DES	n.593A>G n.507A>G c.1119A>G (p.Glu373=) n.591A>G n.514A>G c.1116A>G (p.Glu372=) c.736-49A>G (n.736-49A>G) c.1050A>G (p.Glu350=) c.1098A>G (p.Glu366=) c.849A>G (p.Glu283=)	dbSNP
2	g.219421435A>T	CA2125245	DES	n.593A>T n.507A>T c.1119A>T (p.Glu373Asp) n.591A>T n.514A>T c.1116A>T (p.Glu372Asp) c.736-49A>T (n.736-49A>T) c.1050A>T (p.Glu350Asp) c.1098A>T (p.Glu366Asp) c.849A>T (p.Glu283Asp)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219421436A>C	CA350694359	DES	n.594A>C n.508A>C c.1120A>C (p.Ile374Leu) n.592A>C n.515A>C c.1117A>C (p.Ile373Leu) c.736-48A>C (n.736-48A>C) c.1051A>C (p.Ile351Leu) c.1099A>C (p.Ile367Leu) c.850A>C (p.Ile284Leu)
2	g.219421436A>G	CA350694361	DES	n.594A>G n.508A>G c.1120A>G (p.Ile374Val) n.592A>G n.515A>G c.1117A>G (p.Ile373Val) c.736-48A>G (n.736-48A>G) c.1051A>G (p.Ile351Val) c.1099A>G (p.Ile367Val) c.850A>G (p.Ile284Val)
2	g.219421436A>T	CA350694364	DES	n.594A>T n.508A>T c.1120A>T (p.Ile374Phe) n.592A>T n.515A>T c.1117A>T (p.Ile373Phe) c.736-48A>T (n.736-48A>T) c.1051A>T (p.Ile351Phe) c.1099A>T (p.Ile367Phe) c.850A>T (p.Ile284Phe)
2	g.219421437T>A	CA350694367	DES	n.595T>A n.509T>A c.1121T>A (p.Ile374Asn) n.593T>A n.516T>A c.1118T>A (p.Ile373Asn) c.736-47T>A (n.736-47T>A) c.1052T>A (p.Ile351Asn) c.1100T>A (p.Ile367Asn) c.851T>A (p.Ile284Asn)
2	g.219421437T>C	CA350694370	DES	n.595T>C n.509T>C c.1121T>C (p.Ile374Thr) n.593T>C n.516T>C c.1118T>C (p.Ile373Thr) c.736-47T>C (n.736-47T>C) c.1052T>C (p.Ile351Thr) c.1100T>C (p.Ile367Thr) c.851T>C (p.Ile284Thr)	COSMIC
2	g.219421437T>G	CA350694372	DES	n.595T>G n.509T>G c.1121T>G (p.Ile374Ser) n.593T>G n.516T>G c.1118T>G (p.Ile373Ser) c.736-47T>G (n.736-47T>G) c.1052T>G (p.Ile351Ser) c.1100T>G (p.Ile367Ser) c.851T>G (p.Ile284Ser)
2	g.219421438C>A	CA431284376	DES	n.596C>A n.510C>A c.1122C>A (p.Ile374=) n.594C>A n.517C>A c.1119C>A (p.Ile373=) c.736-46C>A (n.736-46C>A) c.1053C>A (p.Ile351=) c.1101C>A (p.Ile367=) c.852C>A (p.Ile284=)	ClinVar dbSNP
2	g.219421438C=	CA1329211283	DES	n.596C= n.510C= c.1122C= (p.Ile374=) n.594C= n.517C= c.1119C= (p.Ile373=) c.736-46C= (n.736-46C=) c.1053C= (p.Ile351=) c.1101C= (p.Ile367=) c.852C= (p.Ile284=)
2	g.219421438C>G	CA350694376	DES	n.596C>G n.510C>G c.1122C>G (p.Ile374Met) n.594C>G n.517C>G c.1119C>G (p.Ile373Met) c.736-46C>G (n.736-46C>G) c.1053C>G (p.Ile351Met) c.1101C>G (p.Ile367Met) c.852C>G (p.Ile284Met)	dbSNP
2	g.219421438C>T	CA431284380	DES	n.596C>T n.510C>T c.1122C>T (p.Ile374=) n.594C>T n.517C>T c.1119C>T (p.Ile373=) c.736-46C>T (n.736-46C>T) c.1053C>T (p.Ile351=) c.1101C>T (p.Ile367=) c.852C>T (p.Ile284=)
2	g.219421439C>A	CA431284383	DES	n.597C>A n.511C>A c.1123C>A (p.Arg375=) n.595C>A n.518C>A c.1120C>A (p.Arg374=) c.736-45C>A (n.736-45C>A) c.1054C>A (p.Arg352=) c.1102C>A (p.Arg368=) c.853C>A (p.Arg285=)
2	g.219421439C=	CA1329211284	DES	n.597C= n.511C= c.1123C= (p.Arg375=) n.595C= n.518C= c.1120C= (p.Arg374=) c.736-45C= (n.736-45C=) c.1054C= (p.Arg352=) c.1102C= (p.Arg368=) c.853C= (p.Arg285=)
2	g.219421439C>G	CA350694381	DES	n.597C>G n.511C>G c.1123C>G (p.Arg375Gly) n.595C>G n.518C>G c.1120C>G (p.Arg374Gly) c.736-45C>G (n.736-45C>G) c.1054C>G (p.Arg352Gly) c.1102C>G (p.Arg368Gly) c.853C>G (p.Arg285Gly)
2	g.219421439C>T	CA308275	DES	n.597C>T n.511C>T c.1123C>T (p.Arg375Trp) n.595C>T n.518C>T c.1120C>T (p.Arg374Trp) c.736-45C>T (n.736-45C>T) c.1054C>T (p.Arg352Trp) c.1102C>T (p.Arg368Trp) c.853C>T (p.Arg285Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219421440G>A	CA65983588	DES	n.598G>A n.512G>A c.1124G>A (p.Arg375Gln) n.596G>A n.519G>A c.1121G>A (p.Arg374Gln) c.736-44G>A (n.736-44G>A) c.1055G>A (p.Arg352Gln) c.1103G>A (p.Arg368Gln) c.854G>A (p.Arg285Gln)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219421440G>C	CA350694390	DES	n.598G>C n.512G>C c.1124G>C (p.Arg375Pro) n.596G>C n.519G>C c.1121G>C (p.Arg374Pro) c.736-44G>C (n.736-44G>C) c.1055G>C (p.Arg352Pro) c.1103G>C (p.Arg368Pro) c.854G>C (p.Arg285Pro)
2	g.219421440G=	CA1329211285	DES	n.598G= n.512G= c.1124G= (p.Arg375=) n.596G= n.519G= c.1121G= (p.Arg374=) c.736-44G= (n.736-44G=) c.1055G= (p.Arg352=) c.1103G= (p.Arg368=) c.854G= (p.Arg285=)
2	g.219421440G>T	CA350694393	DES	n.598G>T n.512G>T c.1124G>T (p.Arg375Leu) n.596G>T n.519G>T c.1121G>T (p.Arg374Leu) c.736-44G>T (n.736-44G>T) c.1055G>T (p.Arg352Leu) c.1103G>T (p.Arg368Leu) c.854G>T (p.Arg285Leu)
2	g.219421441G>A	CA431284385	DES	n.599G>A n.513G>A c.1125G>A (p.Arg375=) n.597G>A n.520G>A c.1122G>A (p.Arg374=) c.736-43G>A (n.736-43G>A) c.1056G>A (p.Arg352=) c.1104G>A (p.Arg368=) c.855G>A (p.Arg285=)	dbSNP COSMIC
2	g.219421441G>C	CA431284386	DES	n.599G>C n.513G>C c.1125G>C (p.Arg375=) n.597G>C n.520G>C c.1122G>C (p.Arg374=) c.736-43G>C (n.736-43G>C) c.1056G>C (p.Arg352=) c.1104G>C (p.Arg368=) c.855G>C (p.Arg285=)	ClinVar
2	g.219421441G=	CA1329211286	DES	n.599G= n.513G= c.1125G= (p.Arg375=) n.597G= n.520G= c.1122G= (p.Arg374=) c.736-43G= (n.736-43G=) c.1056G= (p.Arg352=) c.1104G= (p.Arg368=) c.855G= (p.Arg285=)
2	g.219421441G>T	CA431284388	DES	n.599G>T n.513G>T c.1125G>T (p.Arg375=) n.597G>T n.520G>T c.1122G>T (p.Arg374=) c.736-43G>T (n.736-43G>T) c.1056G>T (p.Arg352=) c.1104G>T (p.Arg368=) c.855G>T (p.Arg285=)
2	g.219421442C>A	CA350694396	DES	n.600C>A n.514C>A c.1126C>A (p.His376Asn) n.598C>A n.521C>A c.1123C>A (p.His375Asn) c.736-42C>A (n.736-42C>A) c.1057C>A (p.His353Asn) c.1105C>A (p.His369Asn) c.856C>A (p.His286Asn)
2	g.219421442C=	CA1329211287	DES	n.600C= n.514C= c.1126C= (p.His376=) n.598C= n.521C= c.1123C= (p.His375=) c.736-42C= (n.736-42C=) c.1057C= (p.His353=) c.1105C= (p.His369=) c.856C= (p.His286=)
2	g.219421442C>G	CA350694403	DES	n.600C>G n.514C>G c.1126C>G (p.His376Asp) n.598C>G n.521C>G c.1123C>G (p.His375Asp) c.736-42C>G (n.736-42C>G) c.1057C>G (p.His353Asp) c.1105C>G (p.His369Asp) c.856C>G (p.His286Asp)	ClinVar
2	g.219421442C>T	CA217020	DES	n.600C>T n.514C>T c.1126C>T (p.His376Tyr) n.598C>T n.521C>T c.1123C>T (p.His375Tyr) c.736-42C>T (n.736-42C>T) c.1057C>T (p.His353Tyr) c.1105C>T (p.His369Tyr) c.856C>T (p.His286Tyr)	ClinVar dbSNP
2	g.219421443A>C	CA350694407	DES	n.601A>C n.515A>C c.1127A>C (p.His376Pro) n.599A>C n.522A>C c.1124A>C (p.His375Pro) c.736-41A>C (n.736-41A>C) c.1058A>C (p.His353Pro) c.1106A>C (p.His369Pro) c.857A>C (p.His286Pro)
2	g.219421443A>G	CA350694410	DES	n.601A>G n.515A>G c.1127A>G (p.His376Arg) n.599A>G n.522A>G c.1124A>G (p.His375Arg) c.736-41A>G (n.736-41A>G) c.1058A>G (p.His353Arg) c.1106A>G (p.His369Arg) c.857A>G (p.His286Arg)
2	g.219421443A>T	CA350694413	DES	n.601A>T n.515A>T c.1127A>T (p.His376Leu) n.599A>T n.522A>T c.1124A>T (p.His375Leu) c.736-41A>T (n.736-41A>T) c.1058A>T (p.His353Leu) c.1106A>T (p.His369Leu) c.857A>T (p.His286Leu)
2	g.219421444C>A	CA350694419	DES	n.602C>A n.516C>A c.1128C>A (p.His376Gln) n.600C>A n.523C>A c.1125C>A (p.His375Gln) c.736-40C>A (n.736-40C>A) c.1059C>A (p.His353Gln) c.1107C>A (p.His369Gln) c.858C>A (p.His286Gln)
2	g.219421444C=	CA1329211288	DES	n.602C= n.516C= c.1128C= (p.His376=) n.600C= n.523C= c.1125C= (p.His375=) c.736-40C= (n.736-40C=) c.1059C= (p.His353=) c.1107C= (p.His369=) c.858C= (p.His286=)
2	g.219421444C>G	CA350694420	DES	n.602C>G n.516C>G c.1128C>G (p.His376Gln) n.600C>G n.523C>G c.1125C>G (p.His375Gln) c.736-40C>G (n.736-40C>G) c.1059C>G (p.His353Gln) c.1107C>G (p.His369Gln) c.858C>G (p.His286Gln)
2	g.219421444C>T	CA2125246	DES	n.602C>T n.516C>T c.1128C>T (p.His376=) n.600C>T n.523C>T c.1125C>T (p.His375=) c.736-40C>T (n.736-40C>T) c.1059C>T (p.His353=) c.1107C>T (p.His369=) c.858C>T (p.His286=)	dbSNP ExAC gnomAD v2
2	g.219421445C>A	CA350694427	DES	n.603C>A n.517C>A c.1129C>A (p.Leu377Ile) n.601C>A n.524C>A c.1126C>A (p.Leu376Ile) c.736-39C>A (n.736-39C>A) c.1060C>A (p.Leu354Ile) c.1108C>A (p.Leu370Ile) c.859C>A (p.Leu287Ile)
2	g.219421445C>G	CA350694431	DES	n.603C>G n.517C>G c.1129C>G (p.Leu377Val) n.601C>G n.524C>G c.1126C>G (p.Leu376Val) c.736-39C>G (n.736-39C>G) c.1060C>G (p.Leu354Val) c.1108C>G (p.Leu370Val) c.859C>G (p.Leu287Val)
2	g.219421445C>T	CA350694433	DES	n.603C>T n.517C>T c.1129C>T (p.Leu377Phe) n.601C>T n.524C>T c.1126C>T (p.Leu376Phe) c.736-39C>T (n.736-39C>T) c.1060C>T (p.Leu354Phe) c.1108C>T (p.Leu370Phe) c.859C>T (p.Leu287Phe)
2	g.219421445_219421467delinsCTCAAGGATGAGATGGCCCGCCA	CA1329211289	DES	n.603_625delinsCTCAAGGATGAGATGGCCCGCCA n.517_539delinsCTCAAGGATGAGATGGCCCGCCA c.1129_1151delinsCTCAAGGATGAGATGGCCCGCCA (p.Leu377=) n.601_623delinsCTCAAGGATGAGATGGCCCGCCA n.524_546delinsCTCAAGGATGAGATGGCCCGCCA c.1126_1148delinsCTCAAGGATGAGATGGCCCGCCA (p.Leu376=) c.736-39_736-17delinsCTCAAGGATGAGATGGCCCGCCA (n.736-39_736-17delinsCTCAAGGATGAGATGGCCCGCCA) c.1060_1082delinsCTCAAGGATGAGATGGCCCGCCA (p.Leu354=) c.1108_1130delinsCTCAAGGATGAGATGGCCCGCCA (p.Leu370=) c.859_881delinsCTCAAGGATGAGATGGCCCGCCA (p.Leu287=)
2	g.219421446T>A	CA350694438	DES	n.604T>A n.518T>A c.1130T>A (p.Leu377His) n.602T>A n.525T>A c.1127T>A (p.Leu376His) c.736-38T>A (n.736-38T>A) c.1061T>A (p.Leu354His) c.1109T>A (p.Leu370His) c.860T>A (p.Leu287His)
2	g.219421446T>C	CA350694440	DES	n.604T>C n.518T>C c.1130T>C (p.Leu377Pro) n.602T>C n.525T>C c.1127T>C (p.Leu376Pro) c.736-38T>C (n.736-38T>C) c.1061T>C (p.Leu354Pro) c.1109T>C (p.Leu370Pro) c.860T>C (p.Leu287Pro)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219421446T>G	CA350694441	DES	n.604T>G n.518T>G c.1130T>G (p.Leu377Arg) n.602T>G n.525T>G c.1127T>G (p.Leu376Arg) c.736-38T>G (n.736-38T>G) c.1061T>G (p.Leu354Arg) c.1109T>G (p.Leu370Arg) c.860T>G (p.Leu287Arg)
2	g.219421446T=	CA1329211290	DES	n.604T= n.518T= c.1130T= (p.Leu377=) n.602T= n.525T= c.1127T= (p.Leu376=) c.736-38T= (n.736-38T=) c.1061T= (p.Leu354=) c.1109T= (p.Leu370=) c.860T= (p.Leu287=)
2	g.219421448_219421469del	CA915941735	DES	n.606_627del n.520_541del c.1132_1153del (p.Lys378CysfsTer10) n.604_625del n.527_548del c.1129_1150del (p.Lys377CysfsTer10) c.736-36_736-15del (n.736-36_736-15del) c.1063_1084del (p.Lys355CysfsTer10) c.1111_1132del (p.Lys371CysfsTer10) c.862_883del (p.Lys288CysfsTer10)	ClinVar dbSNP gnomAD v4
2	g.219421447C>A	CA431284398	DES	n.605C>A n.519C>A c.1131C>A (p.Leu377=) n.603C>A n.526C>A c.1128C>A (p.Leu376=) c.736-37C>A (n.736-37C>A) c.1062C>A (p.Leu354=) c.1110C>A (p.Leu370=) c.861C>A (p.Leu287=)	dbSNP
2	g.219421447C=	CA1329211291	DES	n.605C= n.519C= c.1131C= (p.Leu377=) n.603C= n.526C= c.1128C= (p.Leu376=) c.736-37C= (n.736-37C=) c.1062C= (p.Leu354=) c.1110C= (p.Leu370=) c.861C= (p.Leu287=)
2	g.219421447C>G	CA431284397	DES	n.605C>G n.519C>G c.1131C>G (p.Leu377=) n.603C>G n.526C>G c.1128C>G (p.Leu376=) c.736-37C>G (n.736-37C>G) c.1062C>G (p.Leu354=) c.1110C>G (p.Leu370=) c.861C>G (p.Leu287=)	dbSNP gnomAD v3 gnomAD v4
2	g.219421447C>T	CA431284396	DES	n.605C>T n.519C>T c.1131C>T (p.Leu377=) n.603C>T n.526C>T c.1128C>T (p.Leu376=) c.736-37C>T (n.736-37C>T) c.1062C>T (p.Leu354=) c.1110C>T (p.Leu370=) c.861C>T (p.Leu287=)
2	g.219421448A>C	CA350694450	DES	n.606A>C n.520A>C c.1132A>C (p.Lys378Gln) n.604A>C n.527A>C c.1129A>C (p.Lys377Gln) c.736-36A>C (n.736-36A>C) c.1063A>C (p.Lys355Gln) c.1111A>C (p.Lys371Gln) c.862A>C (p.Lys288Gln)
2	g.219421448A>G	CA350694445	DES	n.606A>G n.520A>G c.1132A>G (p.Lys378Glu) n.604A>G n.527A>G c.1129A>G (p.Lys377Glu) c.736-36A>G (n.736-36A>G) c.1063A>G (p.Lys355Glu) c.1111A>G (p.Lys371Glu) c.862A>G (p.Lys288Glu)
2	g.219421448A>T	CA350694448	DES	n.606A>T n.520A>T c.1132A>T (p.Lys378Ter) n.604A>T n.527A>T c.1129A>T (p.Lys377Ter) c.736-36A>T (n.736-36A>T) c.1063A>T (p.Lys355Ter) c.1111A>T (p.Lys371Ter) c.862A>T (p.Lys288Ter)
2	g.219421449A=	CA1329211292	DES	n.607A= n.521A= c.1133A= (p.Lys378=) n.605A= n.528A= c.1130A= (p.Lys377=) c.736-35A= (n.736-35A=) c.1064A= (p.Lys355=) c.1112A= (p.Lys371=) c.863A= (p.Lys288=)
2	g.219421449A>C	CA237070	DES	n.607A>C n.521A>C c.1133A>C (p.Lys378Thr) n.605A>C n.528A>C c.1130A>C (p.Lys377Thr) c.736-35A>C (n.736-35A>C) c.1064A>C (p.Lys355Thr) c.1112A>C (p.Lys371Thr) c.863A>C (p.Lys288Thr)	ClinVar dbSNP
2	g.219421449A>G	CA350694457	DES	n.607A>G n.521A>G c.1133A>G (p.Lys378Arg) n.605A>G n.528A>G c.1130A>G (p.Lys377Arg) c.736-35A>G (n.736-35A>G) c.1064A>G (p.Lys355Arg) c.1112A>G (p.Lys371Arg) c.863A>G (p.Lys288Arg)	ClinVar dbSNP gnomAD v4
2	g.219421449A>T	CA350694463	DES	n.607A>T n.521A>T c.1133A>T (p.Lys378Met) n.605A>T n.528A>T c.1130A>T (p.Lys377Met) c.736-35A>T (n.736-35A>T) c.1064A>T (p.Lys355Met) c.1112A>T (p.Lys371Met) c.863A>T (p.Lys288Met)
2	g.219421450G>A	CA431284402	DES	n.608G>A n.522G>A c.1134G>A (p.Lys378=) n.606G>A n.529G>A c.1131G>A (p.Lys377=) c.736-34G>A (n.736-34G>A) c.1065G>A (p.Lys355=) c.1113G>A (p.Lys371=) c.864G>A (p.Lys288=)	ClinVar dbSNP
2	g.219421450G>C	CA350694468	DES	n.608G>C n.522G>C c.1134G>C (p.Lys378Asn) n.606G>C n.529G>C c.1131G>C (p.Lys377Asn) c.736-34G>C (n.736-34G>C) c.1065G>C (p.Lys355Asn) c.1113G>C (p.Lys371Asn) c.864G>C (p.Lys288Asn)
2	g.219421450G=	CA1329211293	DES	n.608G= n.522G= c.1134G= (p.Lys378=) n.606G= n.529G= c.1131G= (p.Lys377=) c.736-34G= (n.736-34G=) c.1065G= (p.Lys355=) c.1113G= (p.Lys371=) c.864G= (p.Lys288=)
2	g.219421450G>T	CA350694471	DES	n.608G>T n.522G>T c.1134G>T (p.Lys378Asn) n.606G>T n.529G>T c.1131G>T (p.Lys377Asn) c.736-34G>T (n.736-34G>T) c.1065G>T (p.Lys355Asn) c.1113G>T (p.Lys371Asn) c.864G>T (p.Lys288Asn)
2	g.219421451G>A	CA350694475	DES	n.609G>A n.523G>A c.1135G>A (p.Asp379Asn) n.607G>A n.530G>A c.1132G>A (p.Asp378Asn) c.736-33G>A (n.736-33G>A) c.1066G>A (p.Asp356Asn) c.1114G>A (p.Asp372Asn) c.865G>A (p.Asp289Asn)	COSMIC
2	g.219421451G>C	CA350694478	DES	n.609G>C n.523G>C c.1135G>C (p.Asp379His) n.607G>C n.530G>C c.1132G>C (p.Asp378His) c.736-33G>C (n.736-33G>C) c.1066G>C (p.Asp356His) c.1114G>C (p.Asp372His) c.865G>C (p.Asp289His)	gnomAD v4
2	g.219421451G>T	CA350694481	DES	n.609G>T n.523G>T c.1135G>T (p.Asp379Tyr) n.607G>T n.530G>T c.1132G>T (p.Asp378Tyr) c.736-33G>T (n.736-33G>T) c.1066G>T (p.Asp356Tyr) c.1114G>T (p.Asp372Tyr) c.865G>T (p.Asp289Tyr)
2	g.219421452A=	CA1329211294	DES	n.610A= n.524A= c.1136A= (p.Asp379=) n.608A= n.531A= c.1133A= (p.Asp378=) c.736-32A= (n.736-32A=) c.1067A= (p.Asp356=) c.1115A= (p.Asp372=) c.866A= (p.Asp289=)
2	g.219421452A>C	CA350694485	DES	n.610A>C n.524A>C c.1136A>C (p.Asp379Ala) n.608A>C n.531A>C c.1133A>C (p.Asp378Ala) c.736-32A>C (n.736-32A>C) c.1067A>C (p.Asp356Ala) c.1115A>C (p.Asp372Ala) c.866A>C (p.Asp289Ala)
2	g.219421452A>G	CA350694486	DES	n.610A>G n.524A>G c.1136A>G (p.Asp379Gly) n.608A>G n.531A>G c.1133A>G (p.Asp378Gly) c.736-32A>G (n.736-32A>G) c.1067A>G (p.Asp356Gly) c.1115A>G (p.Asp372Gly) c.866A>G (p.Asp289Gly)	COSMIC
2	g.219421452A>T	CA350694487	DES	n.610A>T n.524A>T c.1136A>T (p.Asp379Val) n.608A>T n.531A>T c.1133A>T (p.Asp378Val) c.736-32A>T (n.736-32A>T) c.1067A>T (p.Asp356Val) c.1115A>T (p.Asp372Val) c.866A>T (p.Asp289Val)	dbSNP gnomAD v4
2	g.219421453T>A	CA350694489	DES	n.611T>A n.525T>A c.1137T>A (p.Asp379Glu) n.609T>A n.532T>A c.1134T>A (p.Asp378Glu) c.736-31T>A (n.736-31T>A) c.1068T>A (p.Asp356Glu) c.1116T>A (p.Asp372Glu) c.867T>A (p.Asp289Glu)
2	g.219421453T>C	CA431284406	DES	n.611T>C n.525T>C c.1137T>C (p.Asp379=) n.609T>C n.532T>C c.1134T>C (p.Asp378=) c.736-31T>C (n.736-31T>C) c.1068T>C (p.Asp356=) c.1116T>C (p.Asp372=) c.867T>C (p.Asp289=)
2	g.219421453T>G	CA350694488	DES	n.611T>G n.525T>G c.1137T>G (p.Asp379Glu) n.609T>G n.532T>G c.1134T>G (p.Asp378Glu) c.736-31T>G (n.736-31T>G) c.1068T>G (p.Asp356Glu) c.1116T>G (p.Asp372Glu) c.867T>G (p.Asp289Glu)
2	g.219421454G>A	CA350694491	DES	n.612G>A n.526G>A c.1138G>A (p.Glu380Lys) n.610G>A n.533G>A c.1135G>A (p.Glu379Lys) c.736-30G>A (n.736-30G>A) c.1069G>A (p.Glu357Lys) c.1117G>A (p.Glu373Lys) c.868G>A (p.Glu290Lys)
2	g.219421454G>C	CA350694495	DES	n.612G>C n.526G>C c.1138G>C (p.Glu380Gln) n.610G>C n.533G>C c.1135G>C (p.Glu379Gln) c.736-30G>C (n.736-30G>C) c.1069G>C (p.Glu357Gln) c.1117G>C (p.Glu373Gln) c.868G>C (p.Glu290Gln)
2	g.219421454G>T	CA350694492	DES	n.612G>T n.526G>T c.1138G>T (p.Glu380Ter) n.610G>T n.533G>T c.1135G>T (p.Glu379Ter) c.736-30G>T (n.736-30G>T) c.1069G>T (p.Glu357Ter) c.1117G>T (p.Glu373Ter) c.868G>T (p.Glu290Ter)
2	g.219421455A>C	CA350694501	DES	n.613A>C n.527A>C c.1139A>C (p.Glu380Ala) n.611A>C n.534A>C c.1136A>C (p.Glu379Ala) c.736-29A>C (n.736-29A>C) c.1070A>C (p.Glu357Ala) c.1118A>C (p.Glu373Ala) c.869A>C (p.Glu290Ala)
2	g.219421455A>G	CA350694504	DES	n.613A>G n.527A>G c.1139A>G (p.Glu380Gly) n.611A>G n.534A>G c.1136A>G (p.Glu379Gly) c.736-29A>G (n.736-29A>G) c.1070A>G (p.Glu357Gly) c.1118A>G (p.Glu373Gly) c.869A>G (p.Glu290Gly)
2	g.219421455A>T	CA350694507	DES	n.613A>T n.527A>T c.1139A>T (p.Glu380Val) n.611A>T n.534A>T c.1136A>T (p.Glu379Val) c.736-29A>T (n.736-29A>T) c.1070A>T (p.Glu357Val) c.1118A>T (p.Glu373Val) c.869A>T (p.Glu290Val)
2	g.219421456G>A	CA431284409	DES	n.614G>A n.528G>A c.1140G>A (p.Glu380=) n.612G>A n.535G>A c.1137G>A (p.Glu379=) c.736-28G>A (n.736-28G>A) c.1071G>A (p.Glu357=) c.1119G>A (p.Glu373=) c.870G>A (p.Glu290=)	dbSNP
2	g.219421456G>C	CA350694510	DES	n.614G>C n.528G>C c.1140G>C (p.Glu380Asp) n.612G>C n.535G>C c.1137G>C (p.Glu379Asp) c.736-28G>C (n.736-28G>C) c.1071G>C (p.Glu357Asp) c.1119G>C (p.Glu373Asp) c.870G>C (p.Glu290Asp)	dbSNP gnomAD v2 gnomAD v4
2	g.219421456G=	CA1329211295	DES	n.614G= n.528G= c.1140G= (p.Glu380=) n.612G= n.535G= c.1137G= (p.Glu379=) c.736-28G= (n.736-28G=) c.1071G= (p.Glu357=) c.1119G= (p.Glu373=) c.870G= (p.Glu290=)
2	g.219421456G>T	CA350694514	DES	n.614G>T n.528G>T c.1140G>T (p.Glu380Asp) n.612G>T n.535G>T c.1137G>T (p.Glu379Asp) c.736-28G>T (n.736-28G>T) c.1071G>T (p.Glu357Asp) c.1119G>T (p.Glu373Asp) c.870G>T (p.Glu290Asp)
2	g.219421457A>C	CA350694517	DES	n.615A>C n.529A>C c.1141A>C (p.Met381Leu) n.613A>C n.536A>C c.1138A>C (p.Met380Leu) c.736-27A>C (n.736-27A>C) c.1072A>C (p.Met358Leu) c.1120A>C (p.Met374Leu) c.871A>C (p.Met291Leu)
2	g.219421457A>G	CA350694520	DES	n.615A>G n.529A>G c.1141A>G (p.Met381Val) n.613A>G n.536A>G c.1138A>G (p.Met380Val) c.736-27A>G (n.736-27A>G) c.1072A>G (p.Met358Val) c.1120A>G (p.Met374Val) c.871A>G (p.Met291Val)	gnomAD v4
2	g.219421457A>T	CA350694524	DES	n.615A>T n.529A>T c.1141A>T (p.Met381Leu) n.613A>T n.536A>T c.1138A>T (p.Met380Leu) c.736-27A>T (n.736-27A>T) c.1072A>T (p.Met358Leu) c.1120A>T (p.Met374Leu) c.871A>T (p.Met291Leu)
2	g.219421458T>A	CA350694529	DES	n.616T>A n.530T>A c.1142T>A (p.Met381Lys) n.614T>A n.537T>A c.1139T>A (p.Met380Lys) c.736-26T>A (n.736-26T>A) c.1073T>A (p.Met358Lys) c.1121T>A (p.Met374Lys) c.872T>A (p.Met291Lys)	dbSNP gnomAD v2
2	g.219421458T>C	CA2125247	DES	n.616T>C n.530T>C c.1142T>C (p.Met381Thr) n.614T>C n.537T>C c.1139T>C (p.Met380Thr) c.736-26T>C (n.736-26T>C) c.1073T>C (p.Met358Thr) c.1121T>C (p.Met374Thr) c.872T>C (p.Met291Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219421458T>G	CA350694534	DES	n.616T>G n.530T>G c.1142T>G (p.Met381Arg) n.614T>G n.537T>G c.1139T>G (p.Met380Arg) c.736-26T>G (n.736-26T>G) c.1073T>G (p.Met358Arg) c.1121T>G (p.Met374Arg) c.872T>G (p.Met291Arg)
2	g.219421458T=	CA1329211296	DES	n.616T= n.530T= c.1142T= (p.Met381=) n.614T= n.537T= c.1139T= (p.Met380=) c.736-26T= (n.736-26T=) c.1073T= (p.Met358=) c.1121T= (p.Met374=) c.872T= (p.Met291=)
2	g.219421459G>A	CA350694542	DES	n.617G>A n.531G>A c.1143G>A (p.Met381Ile) n.615G>A n.538G>A c.1140G>A (p.Met380Ile) c.736-25G>A (n.736-25G>A) c.1074G>A (p.Met358Ile) c.1122G>A (p.Met374Ile) c.873G>A (p.Met291Ile)
2	g.219421459G>C	CA350694540	DES	n.617G>C n.531G>C c.1143G>C (p.Met381Ile) n.615G>C n.538G>C c.1140G>C (p.Met380Ile) c.736-25G>C (n.736-25G>C) c.1074G>C (p.Met358Ile) c.1122G>C (p.Met374Ile) c.873G>C (p.Met291Ile)
2	g.219421459G>T	CA350694537	DES	n.617G>T n.531G>T c.1143G>T (p.Met381Ile) n.615G>T n.538G>T c.1140G>T (p.Met380Ile) c.736-25G>T (n.736-25G>T) c.1074G>T (p.Met358Ile) c.1122G>T (p.Met374Ile) c.873G>T (p.Met291Ile)
2	g.219421460G>A	CA350694546	DES	n.618G>A n.532G>A c.1144G>A (p.Ala382Thr) n.616G>A n.539G>A c.1141G>A (p.Ala381Thr) c.736-24G>A (n.736-24G>A) c.1075G>A (p.Ala359Thr) c.1123G>A (p.Ala375Thr) c.874G>A (p.Ala292Thr)	ClinVar dbSNP
2	g.219421460G>C	CA350694549	DES	n.618G>C n.532G>C c.1144G>C (p.Ala382Pro) n.616G>C n.539G>C c.1141G>C (p.Ala381Pro) c.736-24G>C (n.736-24G>C) c.1075G>C (p.Ala359Pro) c.1123G>C (p.Ala375Pro) c.874G>C (p.Ala292Pro)
2	g.219421460G=	CA1329211297	DES	n.618G= n.532G= c.1144G= (p.Ala382=) n.616G= n.539G= c.1141G= (p.Ala381=) c.736-24G= (n.736-24G=) c.1075G= (p.Ala359=) c.1123G= (p.Ala375=) c.874G= (p.Ala292=)
2	g.219421460G>T	CA350694550	DES	n.618G>T n.532G>T c.1144G>T (p.Ala382Ser) n.616G>T n.539G>T c.1141G>T (p.Ala381Ser) c.736-24G>T (n.736-24G>T) c.1075G>T (p.Ala359Ser) c.1123G>T (p.Ala375Ser) c.874G>T (p.Ala292Ser)
2	g.219421460_219421461delinsGC	CA1329211298	DES	n.618_619delinsGC n.532_533delinsGC c.1144_1145delinsGC (p.Ala382=) n.616_617delinsGC n.539_540delinsGC c.1141_1142delinsGC (p.Ala381=) c.736-24_736-23delinsGC (n.736-24_736-23delinsGC) c.1075_1076delinsGC (p.Ala359=) c.1123_1124delinsGC (p.Ala375=) c.874_875delinsGC (p.Ala292=)
2	g.219421460_219421469del	CA645528538	DES	n.618_627del n.532_541del c.1144_1153del (p.Ala382CysfsTer10) n.616_625del n.539_548del c.1141_1150del (p.Ala381CysfsTer10) c.736-24_736-15del (n.736-24_736-15del) c.1075_1084del (p.Ala359CysfsTer10) c.1123_1132del (p.Ala375CysfsTer10) c.874_883del (p.Ala292CysfsTer10)	COSMIC
2	g.219421461C>A	CA350694554	DES	n.619C>A n.533C>A c.1145C>A (p.Ala382Asp) n.617C>A n.540C>A c.1142C>A (p.Ala381Asp) c.736-23C>A (n.736-23C>A) c.1076C>A (p.Ala359Asp) c.1124C>A (p.Ala375Asp) c.875C>A (p.Ala292Asp)
2	g.219421461C=	CA1329211300	DES	n.619C= n.533C= c.1145C= (p.Ala382=) n.617C= n.540C= c.1142C= (p.Ala381=) c.736-23C= (n.736-23C=) c.1076C= (p.Ala359=) c.1124C= (p.Ala375=) c.875C= (p.Ala292=)
2	g.219421461C>G	CA350694563	DES	n.619C>G n.533C>G c.1145C>G (p.Ala382Gly) n.617C>G n.540C>G c.1142C>G (p.Ala381Gly) c.736-23C>G (n.736-23C>G) c.1076C>G (p.Ala359Gly) c.1124C>G (p.Ala375Gly) c.875C>G (p.Ala292Gly)
2	g.219421461C>T	CA350694567	DES	n.619C>T n.533C>T c.1145C>T (p.Ala382Val) n.617C>T n.540C>T c.1142C>T (p.Ala381Val) c.736-23C>T (n.736-23C>T) c.1076C>T (p.Ala359Val) c.1124C>T (p.Ala375Val) c.875C>T (p.Ala292Val)	dbSNP gnomAD v2
2	g.219421463del	CA1329211299	DES	n.621del n.535del c.1147del (p.Arg383AlafsTer12) n.619del n.542del c.1144del (p.Arg382AlafsTer12) c.736-21del (n.736-21del) c.1078del (p.Arg360AlafsTer12) c.1126del (p.Arg376AlafsTer12) c.877del (p.Arg293AlafsTer12)	dbSNP
2	g.219421462C>A	CA431284418	DES	n.620C>A n.534C>A c.1146C>A (p.Ala382=) n.618C>A n.541C>A c.1143C>A (p.Ala381=) c.736-22C>A (n.736-22C>A) c.1077C>A (p.Ala359=) c.1125C>A (p.Ala375=) c.876C>A (p.Ala292=)
2	g.219421462C>G	CA431284420	DES	n.620C>G n.534C>G c.1146C>G (p.Ala382=) n.618C>G n.541C>G c.1143C>G (p.Ala381=) c.736-22C>G (n.736-22C>G) c.1077C>G (p.Ala359=) c.1125C>G (p.Ala375=) c.876C>G (p.Ala292=)
2	g.219421462C>T	CA431284422	DES	n.620C>T n.534C>T c.1146C>T (p.Ala382=) n.618C>T n.541C>T c.1143C>T (p.Ala381=) c.736-22C>T (n.736-22C>T) c.1077C>T (p.Ala359=) c.1125C>T (p.Ala375=) c.876C>T (p.Ala292=)	ClinVar
2	g.219421463C>A	CA350694572	DES	n.621C>A n.535C>A c.1147C>A (p.Arg383Ser) n.619C>A n.542C>A c.1144C>A (p.Arg382Ser) c.736-21C>A (n.736-21C>A) c.1078C>A (p.Arg360Ser) c.1126C>A (p.Arg376Ser) c.877C>A (p.Arg293Ser)	ClinVar dbSNP
2	g.219421463C=	CA1329211301	DES	n.621C= n.535C= c.1147C= (p.Arg383=) n.619C= n.542C= c.1144C= (p.Arg382=) c.736-21C= (n.736-21C=) c.1078C= (p.Arg360=) c.1126C= (p.Arg376=) c.877C= (p.Arg293=)
2	g.219421463C>G	CA350694573	DES	n.621C>G n.535C>G c.1147C>G (p.Arg383Gly) n.619C>G n.542C>G c.1144C>G (p.Arg382Gly) c.736-21C>G (n.736-21C>G) c.1078C>G (p.Arg360Gly) c.1126C>G (p.Arg376Gly) c.877C>G (p.Arg293Gly)
2	g.219421463C>T	CA2125248	DES	n.621C>T n.535C>T c.1147C>T (p.Arg383Cys) n.619C>T n.542C>T c.1144C>T (p.Arg382Cys) c.736-21C>T (n.736-21C>T) c.1078C>T (p.Arg360Cys) c.1126C>T (p.Arg376Cys) c.877C>T (p.Arg293Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.219421464G>A	CA350694581	DES	n.622G>A n.536G>A c.1148G>A (p.Arg383His) n.620G>A n.543G>A c.1145G>A (p.Arg382His) c.736-20G>A (n.736-20G>A) c.1079G>A (p.Arg360His) c.1127G>A (p.Arg376His) c.878G>A (p.Arg293His)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219421464G>C	CA350694585	DES	n.622G>C n.536G>C c.1148G>C (p.Arg383Pro) n.620G>C n.543G>C c.1145G>C (p.Arg382Pro) c.736-20G>C (n.736-20G>C) c.1079G>C (p.Arg360Pro) c.1127G>C (p.Arg376Pro) c.878G>C (p.Arg293Pro)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219421464G=	CA1329211302	DES	n.622G= n.536G= c.1148G= (p.Arg383=) n.620G= n.543G= c.1145G= (p.Arg382=) c.736-20G= (n.736-20G=) c.1079G= (p.Arg360=) c.1127G= (p.Arg376=) c.878G= (p.Arg293=)
2	g.219421464G>T	CA350694588	DES	n.622G>T n.536G>T c.1148G>T (p.Arg383Leu) n.620G>T n.543G>T c.1145G>T (p.Arg382Leu) c.736-20G>T (n.736-20G>T) c.1079G>T (p.Arg360Leu) c.1127G>T (p.Arg376Leu) c.878G>T (p.Arg293Leu)	dbSNP gnomAD v4 COSMIC
2	g.219421465C>A	CA431284425	DES	n.623C>A n.537C>A c.1149C>A (p.Arg383=) n.621C>A n.544C>A c.1146C>A (p.Arg382=) c.736-19C>A (n.736-19C>A) c.1080C>A (p.Arg360=) c.1128C>A (p.Arg376=) c.879C>A (p.Arg293=)
2	g.219421465C=	CA1329211303	DES	n.623C= n.537C= c.1149C= (p.Arg383=) n.621C= n.544C= c.1146C= (p.Arg382=) c.736-19C= (n.736-19C=) c.1080C= (p.Arg360=) c.1128C= (p.Arg376=) c.879C= (p.Arg293=)
2	g.219421465C>G	CA431284429	DES	n.623C>G n.537C>G c.1149C>G (p.Arg383=) n.621C>G n.544C>G c.1146C>G (p.Arg382=) c.736-19C>G (n.736-19C>G) c.1080C>G (p.Arg360=) c.1128C>G (p.Arg376=) c.879C>G (p.Arg293=)
2	g.219421465C>T	CA431284428	DES	n.623C>T n.537C>T c.1149C>T (p.Arg383=) n.621C>T n.544C>T c.1146C>T (p.Arg382=) c.736-19C>T (n.736-19C>T) c.1080C>T (p.Arg360=) c.1128C>T (p.Arg376=) c.879C>T (p.Arg293=)	dbSNP
2	g.219421466C>A	CA350694599	DES	n.624C>A n.538C>A c.1150C>A (p.His384Asn) n.622C>A n.545C>A c.1147C>A (p.His383Asn) c.736-18C>A (n.736-18C>A) c.1081C>A (p.His361Asn) c.1129C>A (p.His377Asn) c.880C>A (p.His294Asn)
2	g.219421466C>G	CA350694597	DES	n.624C>G n.538C>G c.1150C>G (p.His384Asp) n.622C>G n.545C>G c.1147C>G (p.His383Asp) c.736-18C>G (n.736-18C>G) c.1081C>G (p.His361Asp) c.1129C>G (p.His377Asp) c.880C>G (p.His294Asp)
2	g.219421466C>T	CA350694592	DES	n.624C>T n.538C>T c.1150C>T (p.His384Tyr) n.622C>T n.545C>T c.1147C>T (p.His383Tyr) c.736-18C>T (n.736-18C>T) c.1081C>T (p.His361Tyr) c.1129C>T (p.His377Tyr) c.880C>T (p.His294Tyr)
2	g.219421467A=	CA1329211304	DES	n.625A= n.539A= c.1151A= (p.His384=) n.623A= n.546A= c.1148A= (p.His383=) c.736-17A= (n.736-17A=) c.1082A= (p.His361=) c.1130A= (p.His377=) c.881A= (p.His294=)
2	g.219421467A>C	CA350694604	DES	n.625A>C n.539A>C c.1151A>C (p.His384Pro) n.623A>C n.546A>C c.1148A>C (p.His383Pro) c.736-17A>C (n.736-17A>C) c.1082A>C (p.His361Pro) c.1130A>C (p.His377Pro) c.881A>C (p.His294Pro)	ClinVar
2	g.219421467A>G	CA350694607	DES	n.625A>G n.539A>G c.1151A>G (p.His384Arg) n.623A>G n.546A>G c.1148A>G (p.His383Arg) c.736-17A>G (n.736-17A>G) c.1082A>G (p.His361Arg) c.1130A>G (p.His377Arg) c.881A>G (p.His294Arg)	ClinVar dbSNP gnomAD v4
2	g.219421467A>T	CA350694610	DES	n.625A>T n.539A>T c.1151A>T (p.His384Leu) n.623A>T n.546A>T c.1148A>T (p.His383Leu) c.736-17A>T (n.736-17A>T) c.1082A>T (p.His361Leu) c.1130A>T (p.His377Leu) c.881A>T (p.His294Leu)
2	g.219421468T>A	CA350694614	DES	n.626T>A n.540T>A c.1152T>A (p.His384Gln) n.624T>A n.547T>A c.1149T>A (p.His383Gln) c.736-16T>A (n.736-16T>A) c.1083T>A (p.His361Gln) c.1131T>A (p.His377Gln) c.882T>A (p.His294Gln)
2	g.219421468T>C	CA431284433	DES	n.626T>C n.540T>C c.1152T>C (p.His384=) n.624T>C n.547T>C c.1149T>C (p.His383=) c.736-16T>C (n.736-16T>C) c.1083T>C (p.His361=) c.1131T>C (p.His377=) c.882T>C (p.His294=)	dbSNP
2	g.219421468T>G	CA350694616	DES	n.626T>G n.540T>G c.1152T>G (p.His384Gln) n.624T>G n.547T>G c.1149T>G (p.His383Gln) c.736-16T>G (n.736-16T>G) c.1083T>G (p.His361Gln) c.1131T>G (p.His377Gln) c.882T>G (p.His294Gln)
2	g.219421468T=	CA1329211305	DES	n.626T= n.540T= c.1152T= (p.His384=) n.624T= n.547T= c.1149T= (p.His383=) c.736-16T= (n.736-16T=) c.1083T= (p.His361=) c.1131T= (p.His377=) c.882T= (p.His294=)
2	g.219421469C>A	CA350694620	DES	n.627C>A n.541C>A c.1153C>A (p.Leu385Met) n.625C>A n.548C>A c.1150C>A (p.Leu384Met) c.736-15C>A (n.736-15C>A) c.1084C>A (p.Leu362Met) c.1132C>A (p.Leu378Met) c.883C>A (p.Leu295Met)
2	g.219421469C=	CA1329211306	DES	n.627C= n.541C= c.1153C= (p.Leu385=) n.625C= n.548C= c.1150C= (p.Leu384=) c.736-15C= (n.736-15C=) c.1084C= (p.Leu362=) c.1132C= (p.Leu378=) c.883C= (p.Leu295=)
2	g.219421469C>G	CA350694622	DES	n.627C>G n.541C>G c.1153C>G (p.Leu385Val) n.625C>G n.548C>G c.1150C>G (p.Leu384Val) c.736-15C>G (n.736-15C>G) c.1084C>G (p.Leu362Val) c.1132C>G (p.Leu378Val) c.883C>G (p.Leu295Val)	ClinVar dbSNP
2	g.219421469C>T	CA431284435	DES	n.627C>T n.541C>T c.1153C>T (p.Leu385=) n.625C>T n.548C>T c.1150C>T (p.Leu384=) c.736-15C>T (n.736-15C>T) c.1084C>T (p.Leu362=) c.1132C>T (p.Leu378=) c.883C>T (p.Leu295=)	dbSNP
2	g.219421470T>A	CA350694626	DES	n.628T>A n.542T>A c.1154T>A (p.Leu385Gln) n.626T>A n.549T>A c.1151T>A (p.Leu384Gln) c.736-14T>A (n.736-14T>A) c.1085T>A (p.Leu362Gln) c.1133T>A (p.Leu378Gln) c.884T>A (p.Leu295Gln)
2	g.219421470T>C	CA217023	DES	n.628T>C n.542T>C c.1154T>C (p.Leu385Pro) n.626T>C n.549T>C c.1151T>C (p.Leu384Pro) c.736-14T>C (n.736-14T>C) c.1085T>C (p.Leu362Pro) c.1133T>C (p.Leu378Pro) c.884T>C (p.Leu295Pro)	ClinVar dbSNP
2	g.219421470T>G	CA350694629	DES	n.628T>G n.542T>G c.1154T>G (p.Leu385Arg) n.626T>G n.549T>G c.1151T>G (p.Leu384Arg) c.736-14T>G (n.736-14T>G) c.1085T>G (p.Leu362Arg) c.1133T>G (p.Leu378Arg) c.884T>G (p.Leu295Arg)
2	g.219421470T=	CA1329211307	DES	n.628T= n.542T= c.1154T= (p.Leu385=) n.626T= n.549T= c.1151T= (p.Leu384=) c.736-14T= (n.736-14T=) c.1085T= (p.Leu362=) c.1133T= (p.Leu378=) c.884T= (p.Leu295=)
2	g.219421471G>A	CA431284437	DES	n.629G>A n.543G>A c.1155G>A (p.Leu385=) n.627G>A n.550G>A c.1152G>A (p.Leu384=) c.736-13G>A (n.736-13G>A) c.1086G>A (p.Leu362=) c.1134G>A (p.Leu378=) c.885G>A (p.Leu295=)	dbSNP gnomAD v2 gnomAD v4
2	g.219421471G>C	CA431284438	DES	n.629G>C n.543G>C c.1155G>C (p.Leu385=) n.627G>C n.550G>C c.1152G>C (p.Leu384=) c.736-13G>C (n.736-13G>C) c.1086G>C (p.Leu362=) c.1134G>C (p.Leu378=) c.885G>C (p.Leu295=)
2	g.219421471G=	CA1329211308	DES	n.629G= n.543G= c.1155G= (p.Leu385=) n.627G= n.550G= c.1152G= (p.Leu384=) c.736-13G= (n.736-13G=) c.1086G= (p.Leu362=) c.1134G= (p.Leu378=) c.885G= (p.Leu295=)
2	g.219421471G>T	CA431284439	DES	n.629G>T n.543G>T c.1155G>T (p.Leu385=) n.627G>T n.550G>T c.1152G>T (p.Leu384=) c.736-13G>T (n.736-13G>T) c.1086G>T (p.Leu362=) c.1134G>T (p.Leu378=) c.885G>T (p.Leu295=)
2	g.219421472C>A	CA350694634	DES	n.630C>A n.544C>A c.1156C>A (p.Arg386Ser) n.628C>A n.551C>A c.1153C>A (p.Arg385Ser) c.736-12C>A (n.736-12C>A) c.1087C>A (p.Arg363Ser) c.1135C>A (p.Arg379Ser) c.886C>A (p.Arg296Ser)
2	g.219421472C=	CA1329211309	DES	n.630C= n.544C= c.1156C= (p.Arg386=) n.628C= n.551C= c.1153C= (p.Arg385=) c.736-12C= (n.736-12C=) c.1087C= (p.Arg363=) c.1135C= (p.Arg379=) c.886C= (p.Arg296=)
2	g.219421472C>G	CA350694636	DES	n.630C>G n.544C>G c.1156C>G (p.Arg386Gly) n.628C>G n.551C>G c.1153C>G (p.Arg385Gly) c.736-12C>G (n.736-12C>G) c.1087C>G (p.Arg363Gly) c.1135C>G (p.Arg379Gly) c.886C>G (p.Arg296Gly)
2	g.219421472C>T	CA2125249	DES	n.630C>T n.544C>T c.1156C>T (p.Arg386Cys) n.628C>T n.551C>T c.1153C>T (p.Arg385Cys) c.736-12C>T (n.736-12C>T) c.1087C>T (p.Arg363Cys) c.1135C>T (p.Arg379Cys) c.886C>T (p.Arg296Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.219421473G>A	CA65983597	DES	n.631G>A n.545G>A c.1157G>A (p.Arg386His) n.629G>A n.552G>A c.1154G>A (p.Arg385His) c.736-11G>A (n.736-11G>A) c.1088G>A (p.Arg363His) c.1136G>A (p.Arg379His) c.887G>A (p.Arg296His)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219421473G>C	CA350694642	DES	n.631G>C n.545G>C c.1157G>C (p.Arg386Pro) n.629G>C n.552G>C c.1154G>C (p.Arg385Pro) c.736-11G>C (n.736-11G>C) c.1088G>C (p.Arg363Pro) c.1136G>C (p.Arg379Pro) c.887G>C (p.Arg296Pro)
2	g.219421473G=	CA1329211311	DES	n.631G= n.545G= c.1157G= (p.Arg386=) n.629G= n.552G= c.1154G= (p.Arg385=) c.736-11G= (n.736-11G=) c.1088G= (p.Arg363=) c.1136G= (p.Arg379=) c.887G= (p.Arg296=)
2	g.219421473G>T	CA350694645	DES	n.631G>T n.545G>T c.1157G>T (p.Arg386Leu) n.629G>T n.552G>T c.1154G>T (p.Arg385Leu) c.736-11G>T (n.736-11G>T) c.1088G>T (p.Arg363Leu) c.1136G>T (p.Arg379Leu) c.887G>T (p.Arg296Leu)	ClinVar COSMIC
2	g.219421473_219421476delinsGCGA	CA1329211310	DES	n.631_634delinsGCGA n.545_548delinsGCGA c.1157_1160delinsGCGA (p.Arg386=) n.629_632delinsGCGA n.552_555delinsGCGA c.1154_1157delinsGCGA (p.Arg385=) c.736-11_736-8delinsGCGA (n.736-11_736-8delinsGCGA) c.1088_1091delinsGCGA (p.Arg363=) c.1136_1139delinsGCGA (p.Arg379=) c.887_890delinsGCGA (p.Arg296=)
2	g.219421474C>A	CA431284443	DES	n.632C>A n.546C>A c.1158C>A (p.Arg386=) n.630C>A n.553C>A c.1155C>A (p.Arg385=) c.736-10C>A (n.736-10C>A) c.1089C>A (p.Arg363=) c.1137C>A (p.Arg379=) c.888C>A (p.Arg296=)	dbSNP
2	g.219421474C=	CA1329211312	DES	n.632C= n.546C= c.1158C= (p.Arg386=) n.630C= n.553C= c.1155C= (p.Arg385=) c.736-10C= (n.736-10C=) c.1089C= (p.Arg363=) c.1137C= (p.Arg379=) c.888C= (p.Arg296=)
2	g.219421474C>G	CA431284444	DES	n.632C>G n.546C>G c.1158C>G (p.Arg386=) n.630C>G n.553C>G c.1155C>G (p.Arg385=) c.736-10C>G (n.736-10C>G) c.1089C>G (p.Arg363=) c.1137C>G (p.Arg379=) c.888C>G (p.Arg296=)	dbSNP
2	g.219421474C>T	CA2125250	DES	n.632C>T n.546C>T c.1158C>T (p.Arg386=) n.630C>T n.553C>T c.1155C>T (p.Arg385=) c.736-10C>T (n.736-10C>T) c.1089C>T (p.Arg363=) c.1137C>T (p.Arg379=) c.888C>T (p.Arg296=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.219421474_219421476del	CA891843392	DES	n.632_634del n.546_548del c.1158_1160del (p.Glu387del) n.630_632del n.553_555del c.1155_1157del (p.Glu386del) c.736-10_736-8del (n.736-10_736-8del) c.1089_1091del (p.Glu364del) c.1137_1139del (p.Glu380del) c.888_890del (p.Glu297del)	ClinVar dbSNP
2	g.219421474_219421476delinsTACCAGGACCTGCTG	CA2573135388	DES	n.632_634delinsTACCAGGACCTGCTG n.546_548delinsTACCAGGACCTGCTG c.1158_1160delinsTACCAGGACCTGCTG (p.Glu387delinsThrArgThrCysTrp) n.630_632delinsTACCAGGACCTGCTG n.553_555delinsTACCAGGACCTGCTG c.1155_1157delinsTACCAGGACCTGCTG (p.Glu386delinsThrArgThrCysTrp) c.736-10_736-8delinsTACCAGGACCTGCTG (n.736-10_736-8delinsTACCAGGACCTGCTG) c.1089_1091delinsTACCAGGACCTGCTG (p.Glu364delinsThrArgThrCysTrp) c.1137_1139delinsTACCAGGACCTGCTG (p.Glu380delinsThrArgThrCysTrp) c.888_890delinsTACCAGGACCTGCTG (p.Glu297delinsThrArgThrCysTrp)	ClinVar dbSNP
2	g.219421475G>A	CA10581951	DES	n.633G>A n.547G>A c.1159G>A (p.Glu387Lys) n.631G>A n.554G>A c.1156G>A (p.Glu386Lys) c.736-9G>A (n.736-9G>A) c.1090G>A (p.Glu364Lys) c.1138G>A (p.Glu380Lys) c.889G>A (p.Glu297Lys)	ClinVar dbSNP gnomAD v4
2	g.219421475G>C	CA350694658	DES	n.633G>C n.547G>C c.1159G>C (p.Glu387Gln) n.631G>C n.554G>C c.1156G>C (p.Glu386Gln) c.736-9G>C (n.736-9G>C) c.1090G>C (p.Glu364Gln) c.1138G>C (p.Glu380Gln) c.889G>C (p.Glu297Gln)
2	g.219421475G=	CA1329211313	DES	n.633G= n.547G= c.1159G= (p.Glu387=) n.631G= n.554G= c.1156G= (p.Glu386=) c.736-9G= (n.736-9G=) c.1090G= (p.Glu364=) c.1138G= (p.Glu380=) c.889G= (p.Glu297=)
2	g.219421475G>T	CA350694661	DES	n.633G>T n.547G>T c.1159G>T (p.Glu387Ter) n.631G>T n.554G>T c.1156G>T (p.Glu386Ter) c.736-9G>T (n.736-9G>T) c.1090G>T (p.Glu364Ter) c.1138G>T (p.Glu380Ter) c.889G>T (p.Glu297Ter)	gnomAD v4
2	g.219421476A>C	CA350694665	DES	n.634A>C n.548A>C c.1160A>C (p.Glu387Ala) n.632A>C n.555A>C c.1157A>C (p.Glu386Ala) c.736-8A>C (n.736-8A>C) c.1091A>C (p.Glu364Ala) c.1139A>C (p.Glu380Ala) c.890A>C (p.Glu297Ala)
2	g.219421476A>G	CA350694668	DES	n.634A>G n.548A>G c.1160A>G (p.Glu387Gly) n.632A>G n.555A>G c.1157A>G (p.Glu386Gly) c.736-8A>G (n.736-8A>G) c.1091A>G (p.Glu364Gly) c.1139A>G (p.Glu380Gly) c.890A>G (p.Glu297Gly)
2	g.219421476A>T	CA350694671	DES	n.634A>T n.548A>T c.1160A>T (p.Glu387Val) n.632A>T n.555A>T c.1157A>T (p.Glu386Val) c.736-8A>T (n.736-8A>T) c.1091A>T (p.Glu364Val) c.1139A>T (p.Glu380Val) c.890A>T (p.Glu297Val)
2	g.219421477G>A	CA431284452	DES	n.635G>A n.549G>A c.1161G>A (p.Glu387=) n.633G>A n.556G>A c.1158G>A (p.Glu386=) c.736-7G>A (n.736-7G>A) c.1092G>A (p.Glu364=) c.1140G>A (p.Glu380=) c.891G>A (p.Glu297=)	gnomAD v4
2	g.219421477G>C	CA350694675	DES	n.635G>C n.549G>C c.1161G>C (p.Glu387Asp) n.633G>C n.556G>C c.1158G>C (p.Glu386Asp) c.736-7G>C (n.736-7G>C) c.1092G>C (p.Glu364Asp) c.1140G>C (p.Glu380Asp) c.891G>C (p.Glu297Asp)	gnomAD v3 gnomAD v4
2	g.219421477G>T	CA350694678	DES	n.635G>T n.549G>T c.1161G>T (p.Glu387Asp) n.633G>T n.556G>T c.1158G>T (p.Glu386Asp) c.736-7G>T (n.736-7G>T) c.1092G>T (p.Glu364Asp) c.1140G>T (p.Glu380Asp) c.891G>T (p.Glu297Asp)
2	g.219421478T>A	CA350694683	DES	n.636T>A n.550T>A c.1162T>A (p.Tyr388Asn) n.634T>A n.557T>A c.1159T>A (p.Tyr387Asn) c.736-6T>A (n.736-6T>A) c.1093T>A (p.Tyr365Asn) c.1141T>A (p.Tyr381Asn) c.892T>A (p.Tyr298Asn)
2	g.219421478T>C	CA350694684	DES	n.636T>C n.550T>C c.1162T>C (p.Tyr388His) n.634T>C n.557T>C c.1159T>C (p.Tyr387His) c.736-6T>C (n.736-6T>C) c.1093T>C (p.Tyr365His) c.1141T>C (p.Tyr381His) c.892T>C (p.Tyr298His)
2	g.219421478T>G	CA350694688	DES	n.636T>G n.550T>G c.1162T>G (p.Tyr388Asp) n.634T>G n.557T>G c.1159T>G (p.Tyr387Asp) c.736-6T>G (n.736-6T>G) c.1093T>G (p.Tyr365Asp) c.1141T>G (p.Tyr381Asp) c.892T>G (p.Tyr298Asp)	gnomAD v3 gnomAD v4
2	g.219421479A>C	CA350694703	DES	n.637A>C n.551A>C c.1163A>C (p.Tyr388Ser) n.635A>C n.558A>C c.1160A>C (p.Tyr387Ser) c.736-5A>C (n.736-5A>C) c.1094A>C (p.Tyr365Ser) c.1142A>C (p.Tyr381Ser) c.893A>C (p.Tyr298Ser)
2	g.219421479A>G	CA350694700	DES	n.637A>G n.551A>G c.1163A>G (p.Tyr388Cys) n.635A>G n.558A>G c.1160A>G (p.Tyr387Cys) c.736-5A>G (n.736-5A>G) c.1094A>G (p.Tyr365Cys) c.1142A>G (p.Tyr381Cys) c.893A>G (p.Tyr298Cys)
2	g.219421479A>T	CA350694693	DES	n.637A>T n.551A>T c.1163A>T (p.Tyr388Phe) n.635A>T n.558A>T c.1160A>T (p.Tyr387Phe) c.736-5A>T (n.736-5A>T) c.1094A>T (p.Tyr365Phe) c.1142A>T (p.Tyr381Phe) c.893A>T (p.Tyr298Phe)
2	g.219421480C>A	CA350694710	DES	n.638C>A n.552C>A c.1164C>A (p.Tyr388Ter) n.636C>A n.559C>A c.1161C>A (p.Tyr387Ter) c.736-4C>A (n.736-4C>A) c.1095C>A (p.Tyr365Ter) c.1143C>A (p.Tyr381Ter) c.894C>A (p.Tyr298Ter)
2	g.219421480C>G	CA350694708	DES	n.638C>G n.552C>G c.1164C>G (p.Tyr388Ter) n.636C>G n.559C>G c.1161C>G (p.Tyr387Ter) c.736-4C>G (n.736-4C>G) c.1095C>G (p.Tyr365Ter) c.1143C>G (p.Tyr381Ter) c.894C>G (p.Tyr298Ter)
2	g.219421480C>T	CA431284454	DES	n.638C>T n.552C>T c.1164C>T (p.Tyr388=) n.636C>T n.559C>T c.1161C>T (p.Tyr387=) c.736-4C>T (n.736-4C>T) c.1095C>T (p.Tyr365=) c.1143C>T (p.Tyr381=) c.894C>T (p.Tyr298=)	gnomAD v4
2	g.219421481C>A	CA350694716	DES	n.639C>A n.553C>A c.1165C>A (p.Gln389Lys) n.637C>A n.560C>A c.1162C>A (p.Gln388Lys) c.736-3C>A (n.736-3C>A) c.1096C>A (p.Gln366Lys) c.1144C>A (p.Gln382Lys) c.895C>A (p.Gln299Lys)
2	g.219421481C>G	CA350694713	DES	n.639C>G n.553C>G c.1165C>G (p.Gln389Glu) n.637C>G n.560C>G c.1162C>G (p.Gln388Glu) c.736-3C>G (n.736-3C>G) c.1096C>G (p.Gln366Glu) c.1144C>G (p.Gln382Glu) c.895C>G (p.Gln299Glu)
2	g.219421481C>T	CA350694719	DES	n.639C>T n.553C>T c.1165C>T (p.Gln389Ter) n.637C>T n.560C>T c.1162C>T (p.Gln388Ter) c.736-3C>T (n.736-3C>T) c.1096C>T (p.Gln366Ter) c.1144C>T (p.Gln382Ter) c.895C>T (p.Gln299Ter)
2	g.219421482A=	CA1329211314	DES	n.640A= n.554A= c.1166A= (p.Gln389=) n.638A= n.561A= c.1163A= (p.Gln388=) c.736-2A= (n.736-2A=) c.1097A= (p.Gln366=) c.1145A= (p.Gln382=) c.896A= (p.Gln299=)
2	g.219421482A>C	CA217025	DES	n.640A>C n.554A>C c.1166A>C (p.Gln389Pro) n.638A>C n.561A>C c.1163A>C (p.Gln388Pro) c.736-2A>C (n.736-2A>C) c.1097A>C (p.Gln366Pro) c.1145A>C (p.Gln382Pro) c.896A>C (p.Gln299Pro)	ClinVar dbSNP
2	g.219421482A>G	CA350694726	DES	n.640A>G n.554A>G c.1166A>G (p.Gln389Arg) n.638A>G n.561A>G c.1163A>G (p.Gln388Arg) c.736-2A>G (n.736-2A>G) c.1097A>G (p.Gln366Arg) c.1145A>G (p.Gln382Arg) c.896A>G (p.Gln299Arg)	ClinVar gnomAD v4
2	g.219421482A>T	CA350694729	DES	n.640A>T n.554A>T c.1166A>T (p.Gln389Leu) n.638A>T n.561A>T c.1163A>T (p.Gln388Leu) c.736-2A>T (n.736-2A>T) c.1097A>T (p.Gln366Leu) c.1145A>T (p.Gln382Leu) c.896A>T (p.Gln299Leu)
2	g.219421483G>A	CA431284457	DES	n.641G>A n.555G>A c.1167G>A (p.Gln389=) n.639G>A n.562G>A c.1164G>A (p.Gln388=) c.736-1G>A (n.736-1G>A) c.1098G>A (p.Gln366=) c.1146G>A (p.Gln382=) c.897G>A (p.Gln299=)
2	g.219421483G>C	CA350694734	DES	n.641G>C n.555G>C c.1167G>C (p.Gln389His) n.639G>C n.562G>C c.1164G>C (p.Gln388His) c.736-1G>C (n.736-1G>C) c.1098G>C (p.Gln366His) c.1146G>C (p.Gln382His) c.897G>C (p.Gln299His)
2	g.219421483G=	CA1329211315	DES	n.641G= n.555G= c.1167G= (p.Gln389=) n.639G= n.562G= c.1164G= (p.Gln388=) c.736-1G= (n.736-1G=) c.1098G= (p.Gln366=) c.1146G= (p.Gln382=) c.897G= (p.Gln299=)
2	g.219421483G>T	CA246640	DES	n.641G>T n.555G>T c.1167G>T (p.Gln389His) n.639G>T n.562G>T c.1164G>T (p.Gln388His) c.736-1G>T (n.736-1G>T) c.1098G>T (p.Gln366His) c.1146G>T (p.Gln382His) c.897G>T (p.Gln299His)	ClinVar dbSNP
2	g.219421484G>A	CA350694739	DES	n.642G>A n.556G>A c.1168G>A (p.Asp390Asn) n.640G>A n.563G>A c.1165G>A (p.Asp389Asn) c.736G>A (p.Asp246Asn) c.1099G>A (p.Asp367Asn) c.1147G>A (p.Asp383Asn) c.898G>A (p.Asp300Asn)
2	g.219421484G>C	CA350694742	DES	n.642G>C n.556G>C c.1168G>C (p.Asp390His) n.640G>C n.563G>C c.1165G>C (p.Asp389His) c.736G>C (p.Asp246His) c.1099G>C (p.Asp367His) c.1147G>C (p.Asp383His) c.898G>C (p.Asp300His)
2	g.219421484G>T	CA350694745	DES	n.642G>T n.556G>T c.1168G>T (p.Asp390Tyr) n.640G>T n.563G>T c.1165G>T (p.Asp389Tyr) c.736G>T (p.Asp246Tyr) c.1099G>T (p.Asp367Tyr) c.1147G>T (p.Asp383Tyr) c.898G>T (p.Asp300Tyr)
2	g.219421485A>C	CA350694749	DES	n.643A>C n.557A>C c.1169A>C (p.Asp390Ala) n.641A>C n.564A>C c.1166A>C (p.Asp389Ala) c.737A>C (p.Asp246Ala) c.1100A>C (p.Asp367Ala) c.1148A>C (p.Asp383Ala) c.899A>C (p.Asp300Ala)
2	g.219421485A>G	CA350694752	DES	n.643A>G n.557A>G c.1169A>G (p.Asp390Gly) n.641A>G n.564A>G c.1166A>G (p.Asp389Gly) c.737A>G (p.Asp246Gly) c.1100A>G (p.Asp367Gly) c.1148A>G (p.Asp383Gly) c.899A>G (p.Asp300Gly)
2	g.219421485A>T	CA350694755	DES	n.643A>T n.557A>T c.1169A>T (p.Asp390Val) n.641A>T n.564A>T c.1166A>T (p.Asp389Val) c.737A>T (p.Asp246Val) c.1100A>T (p.Asp367Val) c.1148A>T (p.Asp383Val) c.899A>T (p.Asp300Val)

Number of alleles fetched