Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.219418421_219418453del	CA2663248211	DES	c.-42_-10del (n.-42_-10del)	gnomAD v4
2	g.219418453C>A	CA2663248387	DES	c.-10C>A (n.-10C>A)	gnomAD v4
2	g.219418453C=	CA1329209783	DES	c.-10C= (n.-10C=)
2	g.219418453C>T	CA647816747	DES	c.-10C>T (n.-10C>T)	dbSNP gnomAD v4 COSMIC
2	g.219418454G>A	CA539628737	DES	c.-9G>A (n.-9G>A)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418454G=	CA1329209784	DES	c.-9G= (n.-9G=)
2	g.219418454G>T	CA2663248395	DES	c.-9G>T (n.-9G>T)	gnomAD v4
2	g.219418455C>A	CA2663248397	DES	c.-8C>A (n.-8C>A)	gnomAD v4
2	g.219418455C=	CA1329209785	DES	c.-8C= (n.-8C=)
2	g.219418455C>G	CA764963629	DES	c.-8C>G (n.-8C>G)	dbSNP gnomAD v3 gnomAD v4
2	g.219418455C>T	CA764963632	DES	c.-8C>T (n.-8C>T)	dbSNP gnomAD v4
2	g.219418456C>A	CA1329209787	DES	c.-7C>A (n.-7C>A)	dbSNP gnomAD v4
2	g.219418456C=	CA1329209786	DES	c.-7C= (n.-7C=)
2	g.219418456C>G	CA2125000	DES	c.-7C>G (n.-7C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418456C>T	CA2663248400	DES	c.-7C>T (n.-7C>T)	gnomAD v4
2	g.219418457G>A	CA2125001	DES	c.-6G>A (n.-6G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418457G=	CA1329209788	DES	c.-6G= (n.-6G=)
2	g.219418457G>T	CA2663248401	DES	c.-6G>T (n.-6G>T)	gnomAD v4
2	g.219418458T>C	CA539628740	DES	c.-5T>C (n.-5T>C)	dbSNP gnomAD v2
2	g.219418458T=	CA1329209789	DES	c.-5T= (n.-5T=)
2	g.219418459C>A	CA2663248402	DES	c.-4C>A (n.-4C>A)	gnomAD v4
2	g.219418459C=	CA1329209791	DES	c.-4C= (n.-4C=)
2	g.219418459C>T	CA1329209790	DES	c.-4C>T (n.-4C>T)	dbSNP
2	g.219418460A>G	CA2663248404	DES	c.-3A>G (n.-3A>G)	gnomAD v4
2	g.219418461C>T	CA2580065767	DES	c.-2C>T (n.-2C>T)	ClinVar gnomAD v4
2	g.219418462C>A	CA2663248407	DES	c.-1C>A (n.-1C>A)	gnomAD v4
2	g.219418463A=	CA1329209792	DES	c.1A= (p.Met1=)
2	g.219418463A>C	CA350681900	DES	c.1A>C (p.Met1Leu)
2	g.219418463A>G	CA16604392	DES	c.1A>G (p.Met1Val)	ClinVar dbSNP gnomAD v4
2	g.219418463A>T	CA350681901	DES	c.1A>T (p.Met1Leu)
2	g.219418464T>A	CA350681905	DES	c.2T>A (p.Met1Lys)
2	g.219418464T>C	CA350681909	DES	c.2T>C (p.Met1Thr)	ClinVar dbSNP gnomAD v4
2	g.219418464T>G	CA350681913	DES	c.2T>G (p.Met1Arg)
2	g.219418465G>A	CA350681922	DES	c.3G>A (p.Met1Ile)
2	g.219418465G>C	CA350681923	DES	c.3G>C (p.Met1Ile)
2	g.219418465G>T	CA350681924	DES	c.3G>T (p.Met1Ile)
2	g.219418465_219418509del	CA2663248423	DES	c.3_47del (p.Met1_Arg16delinsIle)	gnomAD v4
2	g.219418466_219418517dup	CA2663248413	DES	c.4_55dup (p.Gly19GlufsTer42)	gnomAD v4
2	g.219418466A>C	CA350681935	DES	c.4A>C (p.Ser2Arg)
2	g.219418466A>G	CA350681927	DES	c.4A>G (p.Ser2Gly)
2	g.219418466A>T	CA350681930	DES	c.4A>T (p.Ser2Cys)
2	g.219418467G>A	CA350681936	DES	c.5G>A (p.Ser2Asn)	gnomAD v4
2	g.219418467G>C	CA350681937	DES	c.5G>C (p.Ser2Thr)
2	g.219418467G=	CA1329209793	DES	c.5G= (p.Ser2=)
2	g.219418467G>T	CA217078	DES	c.5G>T (p.Ser2Ile)	ClinVar dbSNP gnomAD v4
2	g.219418468C>A	CA350681943	DES	c.6C>A (p.Ser2Arg)	gnomAD v4
2	g.219418468C>G	CA350681949	DES	c.6C>G (p.Ser2Arg)
2	g.219418468C>T	CA431283951	DES	c.6C>T (p.Ser2=)	gnomAD v4
2	g.219418469C>A	CA350681954	DES	c.7C>A (p.Gln3Lys)	gnomAD v4
2	g.219418469C=	CA1329209794	DES	c.7C= (p.Gln3=)
2	g.219418469C>G	CA350681960	DES	c.7C>G (p.Gln3Glu)	ClinVar
2	g.219418469C>T	CA350681964	DES	c.7C>T (p.Gln3Ter)	ClinVar dbSNP gnomAD v4
2	g.219418470A=	CA1329209795	DES	c.8A= (p.Gln3=)
2	g.219418470A>C	CA350681970	DES	c.8A>C (p.Gln3Pro)
2	g.219418470A>G	CA350681975	DES	c.8A>G (p.Gln3Arg)	ClinVar dbSNP gnomAD v4
2	g.219418470A>T	CA350681979	DES	c.8A>T (p.Gln3Leu)
2	g.219418471G>A	CA431283958	DES	c.9G>A (p.Gln3=)	ClinVar dbSNP gnomAD v4
2	g.219418471G>C	CA350681981	DES	c.9G>C (p.Gln3His)
2	g.219418471G=	CA1329209796	DES	c.9G= (p.Gln3=)
2	g.219418471G>T	CA350681982	DES	c.9G>T (p.Gln3His)
2	g.219418472G>A	CA350682006	DES	c.10G>A (p.Ala4Thr)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418472G>C	CA350681993	DES	c.10G>C (p.Ala4Pro)
2	g.219418472G=	CA1329209797	DES	c.10G= (p.Ala4=)
2	g.219418472G>T	CA350681986	DES	c.10G>T (p.Ala4Ser)	gnomAD v4
2	g.219418473C>A	CA350682026	DES	c.11C>A (p.Ala4Asp)	ClinVar gnomAD v4
2	g.219418473C=	CA1329209798	DES	c.11C= (p.Ala4=)
2	g.219418473C>G	CA350682020	DES	c.11C>G (p.Ala4Gly)	dbSNP gnomAD v2 gnomAD v4
2	g.219418473C>T	CA350682040	DES	c.11C>T (p.Ala4Val)	gnomAD v4
2	g.219418474C>A	CA2125002	DES	c.12C>A (p.Ala4=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418474C=	CA1329209799	DES	c.12C= (p.Ala4=)
2	g.219418474C>G	CA431283963	DES	c.12C>G (p.Ala4=)	ClinVar dbSNP
2	g.219418474C>T	CA431283964	DES	c.12C>T (p.Ala4=)
2	g.219418475T>A	CA350682047	DES	c.13T>A (p.Tyr5Asn)
2	g.219418475T>C	CA350682051	DES	c.13T>C (p.Tyr5His)	gnomAD v4
2	g.219418475T>G	CA350682054	DES	c.13T>G (p.Tyr5Asp)
2	g.219418476A=	CA1329209800	DES	c.14A= (p.Tyr5=)
2	g.219418476A>C	CA350682056	DES	c.14A>C (p.Tyr5Ser)	dbSNP
2	g.219418476A>G	CA350682057	DES	c.14A>G (p.Tyr5Cys)	gnomAD v4
2	g.219418476A>T	CA350682061	DES	c.14A>T (p.Tyr5Phe)
2	g.219418477C>A	CA350682066	DES	c.15C>A (p.Tyr5Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418477C=	CA1329209801	DES	c.15C= (p.Tyr5=)
2	g.219418477C>G	CA350682069	DES	c.15C>G (p.Tyr5Ter)	gnomAD v4
2	g.219418477C>T	CA431283970	DES	c.15C>T (p.Tyr5=)
2	g.219418478T>A	CA350682073	DES	c.16T>A (p.Ser6Thr)
2	g.219418478T>C	CA350682076	DES	c.16T>C (p.Ser6Pro)
2	g.219418478T>G	CA350682078	DES	c.16T>G (p.Ser6Ala)
2	g.219418479C>A	CA350682092	DES	c.17C>A (p.Ser6Ter)	dbSNP gnomAD v2 gnomAD v4
2	g.219418479C=	CA1329209802	DES	c.17C= (p.Ser6=)
2	g.219418479C>G	CA350682089	DES	c.17C>G (p.Ser6Trp)	ClinVar dbSNP gnomAD v4
2	g.219418479C>T	CA350682084	DES	c.17C>T (p.Ser6Leu)	ClinVar dbSNP gnomAD v4
2	g.219418480G>A	CA133835	DES	c.18G>A (p.Ser6=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418480G>C	CA431283978	DES	c.18G>C (p.Ser6=)
2	g.219418480G=	CA1329209803	DES	c.18G= (p.Ser6=)
2	g.219418480G>T	CA431283979	DES	c.18G>T (p.Ser6=)
2	g.219418481T>A	CA350682106	DES	c.19T>A (p.Ser7Thr)
2	g.219418481T>C	CA350682110	DES	c.19T>C (p.Ser7Pro)
2	g.219418481T>G	CA350682113	DES	c.19T>G (p.Ser7Ala)
2	g.219418482C>A	CA350682118	DES	c.20C>A (p.Ser7Tyr)
2	g.219418482C=	CA1329209804	DES	c.20C= (p.Ser7=)
2	g.219418482C>G	CA350682120	DES	c.20C>G (p.Ser7Cys)
2	g.219418482C>T	CA65980518	DES	c.20C>T (p.Ser7Phe)	ClinVar dbSNP gnomAD v4
2	g.219418483C>A	CA431283986	DES	c.21C>A (p.Ser7=)
2	g.219418483C>G	CA431283988	DES	c.21C>G (p.Ser7=)
2	g.219418483C>T	CA431283987	DES	c.21C>T (p.Ser7=)
2	g.219418484A=	CA1329209805	DES	c.22A= (p.Ser8=)
2	g.219418484A>C	CA350682124	DES	c.22A>C (p.Ser8Arg)
2	g.219418484A>G	CA2125003	DES	c.22A>G (p.Ser8Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418484A>T	CA350682128	DES	c.22A>T (p.Ser8Cys)
2	g.219418485G>A	CA350682134	DES	c.23G>A (p.Ser8Asn)	COSMIC
2	g.219418485G>C	CA350682135	DES	c.23G>C (p.Ser8Thr)
2	g.219418485G>T	CA350682139	DES	c.23G>T (p.Ser8Ile)
2	g.219418486C>A	CA350682149	DES	c.24C>A (p.Ser8Arg)
2	g.219418486C>G	CA350682146	DES	c.24C>G (p.Ser8Arg)
2	g.219418486C>T	CA431283995	DES	c.24C>T (p.Ser8=)	gnomAD v4
2	g.219418487C>A	CA350682153	DES	c.25C>A (p.Gln9Lys)
2	g.219418487C=	CA1329209806	DES	c.25C= (p.Gln9=)
2	g.219418487C>G	CA10606821	DES	c.25C>G (p.Gln9Glu)	ClinVar dbSNP
2	g.219418487C>T	CA350682160	DES	c.25C>T (p.Gln9Ter)
2	g.219418488A=	CA1329209807	DES	c.26A= (p.Gln9=)
2	g.219418488A>C	CA350682164	DES	c.26A>C (p.Gln9Pro)
2	g.219418488A>G	CA350682166	DES	c.26A>G (p.Gln9Arg)	gnomAD v4
2	g.219418488A>T	CA350682168	DES	c.26A>T (p.Gln9Leu)	dbSNP
2	g.219418489G>A	CA431284002	DES	c.27G>A (p.Gln9=)
2	g.219418489G>C	CA350682171	DES	c.27G>C (p.Gln9His)
2	g.219418489G>T	CA350682174	DES	c.27G>T (p.Gln9His)	gnomAD v4
2	g.219418490C>A	CA350682178	DES	c.28C>A (p.Arg10Ser)	ClinVar dbSNP
2	g.219418490C=	CA1329209808	DES	c.28C= (p.Arg10=)
2	g.219418490C>G	CA350682182	DES	c.28C>G (p.Arg10Gly)	dbSNP
2	g.219418490C>T	CA350682181	DES	c.28C>T (p.Arg10Cys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418491G>A	CA2125004	DES	c.29G>A (p.Arg10His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418491G>C	CA350682185	DES	c.29G>C (p.Arg10Pro)
2	g.219418491G=	CA1329209809	DES	c.29G= (p.Arg10=)
2	g.219418491G>T	CA350682188	DES	c.29G>T (p.Arg10Leu)	gnomAD v4
2	g.219418492C>A	CA10603904	DES	c.30C>A (p.Arg10=)	ClinVar dbSNP
2	g.219418492C=	CA1329209810	DES	c.30C= (p.Arg10=)
2	g.219418492C>G	CA431284008	DES	c.30C>G (p.Arg10=)
2	g.219418492C>T	CA431284009	DES	c.30C>T (p.Arg10=)	ClinVar dbSNP gnomAD v4
2	g.219418493G>A	CA350682204	DES	c.31G>A (p.Val11Met)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418493G>C	CA350682208	DES	c.31G>C (p.Val11Leu)	gnomAD v4
2	g.219418493G=	CA1329209811	DES	c.31G= (p.Val11=)
2	g.219418493G>T	CA350682207	DES	c.31G>T (p.Val11Leu)	ClinVar gnomAD v4
2	g.219418494T>A	CA350682210	DES	c.32T>A (p.Val11Glu)
2	g.219418494T>C	CA350682212	DES	c.32T>C (p.Val11Ala)	ClinVar
2	g.219418494T>G	CA350682215	DES	c.32T>G (p.Val11Gly)
2	g.219418495G>A	CA431284011	DES	c.33G>A (p.Val11=)
2	g.219418495G>C	CA431284013	DES	c.33G>C (p.Val11=)
2	g.219418495G>T	CA431284015	DES	c.33G>T (p.Val11=)
2	g.219418496T>A	CA350682233	DES	c.34T>A (p.Ser12Thr)
2	g.219418496T>C	CA2125005	DES	c.34T>C (p.Ser12Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418496T>G	CA350682239	DES	c.34T>G (p.Ser12Ala)
2	g.219418496T=	CA1329209812	DES	c.34T= (p.Ser12=)
2	g.219418497C>A	CA350682247	DES	c.35C>A (p.Ser12Tyr)
2	g.219418497C=	CA1329209813	DES	c.35C= (p.Ser12=)
2	g.219418497C>G	CA350682251	DES	c.35C>G (p.Ser12Cys)
2	g.219418497C>T	CA217069	DES	c.35C>T (p.Ser12Phe)	ClinVar dbSNP gnomAD v4
2	g.219418498C>A	CA431284019	DES	c.36C>A (p.Ser12=)	gnomAD v4
2	g.219418498C>G	CA431284020	DES	c.36C>G (p.Ser12=)
2	g.219418498C>T	CA431284021	DES	c.36C>T (p.Ser12=)	ClinVar gnomAD v4
2	g.219418499_219419548del	CA1139655693	DES	c.37_578+508del c.37_495+591del	ClinVar
2	g.219418499T>A	CA350682264	DES	c.37T>A (p.Ser13Thr)
2	g.219418499T>C	CA350682267	DES	c.37T>C (p.Ser13Pro)	ClinVar dbSNP
2	g.219418499T>G	CA350682270	DES	c.37T>G (p.Ser13Ala)
2	g.219418499T=	CA1329209814	DES	c.37T= (p.Ser13=)
2	g.219418499_219418511delinsTCCTACCGCCGCA	CA1329209815	DES	c.37_49delinsTCCTACCGCCGCA (p.Ser13=)
2	g.219418500C>A	CA350682283	DES	c.38C>A (p.Ser13Tyr)	ClinVar dbSNP
2	g.219418500C=	CA1329209816	DES	c.38C= (p.Ser13=)
2	g.219418500C>G	CA350682275	DES	c.38C>G (p.Ser13Cys)
2	g.219418500C>T	CA261520	DES	c.38C>T (p.Ser13Phe)	ClinVar dbSNP
2	g.219418503_219418514del	CA1042519974	DES	c.41_52del (p.Tyr14_Thr17del)	dbSNP gnomAD v3 gnomAD v4
2	g.219418501C>A	CA431427411	DES	c.39C>A (p.Ser13=)	gnomAD v4
2	g.219418501C>G	CA431427412	DES	c.39C>G (p.Ser13=)	gnomAD v4
2	g.219418501C>T	CA431427413	DES	c.39C>T (p.Ser13=)
2	g.219418502del	CA2663248650	DES	c.40del (p.Tyr14ThrfsTer17)	gnomAD v4
2	g.219418502T>A	CA350682285	DES	c.40T>A (p.Tyr14Asn)
2	g.219418502T>C	CA2125006	DES	c.40T>C (p.Tyr14His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418502T>G	CA350682287	DES	c.40T>G (p.Tyr14Asp)
2	g.219418502T=	CA1329209817	DES	c.40T= (p.Tyr14=)
2	g.219418503A>C	CA350682294	DES	c.41A>C (p.Tyr14Ser)	dbSNP gnomAD v4
2	g.219418503A>G	CA350682296	DES	c.41A>G (p.Tyr14Cys)
2	g.219418503A>T	CA350682298	DES	c.41A>T (p.Tyr14Phe)
2	g.219418504C>A	CA350682306	DES	c.42C>A (p.Tyr14Ter)	dbSNP gnomAD v3 gnomAD v4 COSMIC
2	g.219418504C=	CA1329209818	DES	c.42C= (p.Tyr14=)
2	g.219418504C>G	CA350682314	DES	c.42C>G (p.Tyr14Ter)
2	g.219418504C>T	CA431427414	DES	c.42C>T (p.Tyr14=)
2	g.219418505C>A	CA16622111	DES	c.43C>A (p.Arg15Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418505C=	CA1329209819	DES	c.43C= (p.Arg15=)
2	g.219418505C>G	CA2125007	DES	c.43C>G (p.Arg15Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418505C>T	CA2125008	DES	c.43C>T (p.Arg15Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418506G>A	CA65980589	DES	c.44G>A (p.Arg15His)	dbSNP gnomAD v3 gnomAD v4
2	g.219418506G>C	CA350682324	DES	c.44G>C (p.Arg15Pro)	dbSNP
2	g.219418506G=	CA1329209820	DES	c.44G= (p.Arg15=)
2	g.219418506G>T	CA350682330	DES	c.44G>T (p.Arg15Leu)	gnomAD v4
2	g.219418507C>A	CA431427415	DES	c.45C>A (p.Arg15=)	gnomAD v4
2	g.219418507C=	CA1329209821	DES	c.45C= (p.Arg15=)
2	g.219418507C>G	CA431427416	DES	c.45C>G (p.Arg15=)
2	g.219418507C>T	CA431427417	DES	c.45C>T (p.Arg15=)	ClinVar dbSNP
2	g.219418508C>A	CA350682339	DES	c.46C>A (p.Arg16Ser)	ClinVar dbSNP
2	g.219418508C=	CA1329209822	DES	c.46C= (p.Arg16=)
2	g.219418508C>G	CA350682336	DES	c.46C>G (p.Arg16Gly)
2	g.219418508C>T	CA217072	DES	c.46C>T (p.Arg16Cys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418509G>A	CA350682349	DES	c.47G>A (p.Arg16His)	gnomAD v4 COSMIC
2	g.219418509G>C	CA350682353	DES	c.47G>C (p.Arg16Pro)
2	g.219418509G>T	CA350682361	DES	c.47G>T (p.Arg16Leu)	gnomAD v4
2	g.219418510C>A	CA431427418	DES	c.48C>A (p.Arg16=)	gnomAD v4
2	g.219418510C>G	CA431427420	DES	c.48C>G (p.Arg16=)
2	g.219418510C>T	CA431427419	DES	c.48C>T (p.Arg16=)	gnomAD v4
2	g.219418511_219418516dup	CA2586971375	DES	c.49_54dup (p.Phe18_Gly19insThrPhe)
2	g.219418511A=	CA1329209823	DES	c.49A= (p.Thr17=)
2	g.219418511A>C	CA350682368	DES	c.49A>C (p.Thr17Pro)	ClinVar
2	g.219418511A>G	CA350682377	DES	c.49A>G (p.Thr17Ala)
2	g.219418511A>T	CA350682380	DES	c.49A>T (p.Thr17Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418512C>A	CA350682384	DES	c.50C>A (p.Thr17Asn)	ClinVar dbSNP gnomAD v4
2	g.219418512C=	CA1329209824	DES	c.50C= (p.Thr17=)
2	g.219418512C>G	CA350682390	DES	c.50C>G (p.Thr17Ser)
2	g.219418512C>T	CA350682393	DES	c.50C>T (p.Thr17Ile)
2	g.219418513C>A	CA431427421	DES	c.51C>A (p.Thr17=)	gnomAD v4
2	g.219418513C>G	CA431427422	DES	c.51C>G (p.Thr17=)
2	g.219418513C>T	CA431427423	DES	c.51C>T (p.Thr17=)	gnomAD v4
2	g.219418514_219418516del	CA2663248730	DES	c.52_54del (p.Phe18del)	gnomAD v4
2	g.219418514T>A	CA350682396	DES	c.52T>A (p.Phe18Ile)	gnomAD v4
2	g.219418514T>C	CA350682397	DES	c.52T>C (p.Phe18Leu)
2	g.219418514T>G	CA350682399	DES	c.52T>G (p.Phe18Val)
2	g.219418515del	CA2663248738	DES	c.53del (p.Phe18SerfsTer13)	gnomAD v4
2	g.219418515T>A	CA350682414	DES	c.53T>A (p.Phe18Tyr)
2	g.219418515T>C	CA350682410	DES	c.53T>C (p.Phe18Ser)
2	g.219418515T>G	CA350682403	DES	c.53T>G (p.Phe18Cys)
2	g.219418516C>A	CA350682430	DES	c.54C>A (p.Phe18Leu)	gnomAD v4
2	g.219418516C=	CA1329209825	DES	c.54C= (p.Phe18=)
2	g.219418516C>G	CA350682419	DES	c.54C>G (p.Phe18Leu)	dbSNP gnomAD v4
2	g.219418516C>T	CA431427424	DES	c.54C>T (p.Phe18=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418517G>A	CA350682431	DES	c.55G>A (p.Gly19Ser)	dbSNP gnomAD v3 gnomAD v4
2	g.219418517G>C	CA65980591	DES	c.55G>C (p.Gly19Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418517G=	CA1329209826	DES	c.55G= (p.Gly19=)
2	g.219418517G>T	CA350682434	DES	c.55G>T (p.Gly19Cys)
2	g.219418518G>A	CA350682436	DES	c.56G>A (p.Gly19Asp)
2	g.219418518G>C	CA350682437	DES	c.56G>C (p.Gly19Ala)
2	g.219418518G>T	CA350682438	DES	c.56G>T (p.Gly19Val)	gnomAD v4
2	g.219418518_219418537del	CA2663248758	DES	c.56_75del (p.Gly19AlafsTer18)	gnomAD v4
2	g.219418519C>A	CA431427427	DES	c.57C>A (p.Gly19=)	gnomAD v4
2	g.219418519C=	CA1329209827	DES	c.57C= (p.Gly19=)
2	g.219418519C>G	CA431427425	DES	c.57C>G (p.Gly19=)
2	g.219418519C>T	CA431427426	DES	c.57C>T (p.Gly19=)	dbSNP gnomAD v2 gnomAD v4
2	g.219418520G>A	CA16610716	DES	c.58G>A (p.Gly20Arg)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418520G>C	CA350682448	DES	c.58G>C (p.Gly20Arg)
2	g.219418520G=	CA1329209828	DES	c.58G= (p.Gly20=)
2	g.219418520G>T	CA350682443	DES	c.58G>T (p.Gly20Trp)	gnomAD v4
2	g.219418523del	CA2663248765	DES	c.61del (p.Ala21ProfsTer10)	gnomAD v4
2	g.219418521G>A	CA350682451	DES	c.59G>A (p.Gly20Glu)	ClinVar dbSNP gnomAD v4
2	g.219418521G>C	CA350682466	DES	c.59G>C (p.Gly20Ala)
2	g.219418521G>T	CA350682467	DES	c.59G>T (p.Gly20Val)	gnomAD v4
2	g.219418522G>A	CA431427428	DES	c.60G>A (p.Gly20=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418522G>C	CA65980598	DES	c.60G>C (p.Gly20=)	dbSNP gnomAD v2 gnomAD v4
2	g.219418522G=	CA1329209829	DES	c.60G= (p.Gly20=)
2	g.219418522G>T	CA431427429	DES	c.60G>T (p.Gly20=)	gnomAD v4
2	g.219418523G>A	CA2125009	DES	c.61G>A (p.Ala21Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418523G>C	CA350682486	DES	c.61G>C (p.Ala21Pro)	dbSNP gnomAD v4
2	g.219418523G=	CA1329209830	DES	c.61G= (p.Ala21=)
2	g.219418523G>T	CA350682480	DES	c.61G>T (p.Ala21Ser)
2	g.219418524C>A	CA350682495	DES	c.62C>A (p.Ala21Asp)	ClinVar dbSNP gnomAD v4
2	g.219418524C=	CA1329209831	DES	c.62C= (p.Ala21=)
2	g.219418524C>G	CA350682502	DES	c.62C>G (p.Ala21Gly)
2	g.219418524C>T	CA2125010	DES	c.62C>T (p.Ala21Val)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418527dup	CA2663248807	DES	c.65dup (p.Phe24LeufsTer20)	gnomAD v4
2	g.219418527del	CA2663248809	DES	c.65del (p.Pro22ArgfsTer9)	gnomAD v4
2	g.219418525C>A	CA431427430	DES	c.63C>A (p.Ala21=)
2	g.219418525C=	CA1329209832	DES	c.63C= (p.Ala21=)
2	g.219418525C>G	CA431427431	DES	c.63C>G (p.Ala21=)
2	g.219418525C>T	CA2125011	DES	c.63C>T (p.Ala21=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418526C>A	CA350682539	DES	c.64C>A (p.Pro22Thr)
2	g.219418526C>G	CA350682560	DES	c.64C>G (p.Pro22Ala)
2	g.219418526C>T	CA350682570	DES	c.64C>T (p.Pro22Ser)	gnomAD v4
2	g.219418527C>A	CA350682575	DES	c.65C>A (p.Pro22Gln)	gnomAD v4
2	g.219418527C=	CA1329209833	DES	c.65C= (p.Pro22=)
2	g.219418527C>G	CA2125012	DES	c.65C>G (p.Pro22Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418527C>T	CA350682577	DES	c.65C>T (p.Pro22Leu)	dbSNP gnomAD v2 gnomAD v4
2	g.219418528G>A	CA2125013	DES	c.66G>A (p.Pro22=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418528G>C	CA431427432	DES	c.66G>C (p.Pro22=)	dbSNP gnomAD v2 gnomAD v4
2	g.219418528G=	CA1329209834	DES	c.66G= (p.Pro22=)
2	g.219418528G>T	CA431427433	DES	c.66G>T (p.Pro22=)	gnomAD v4
2	g.219418530del	CA2663248851	DES	c.68del (p.Gly23AlafsTer8)	gnomAD v4
2	g.219418529G>A	CA350682590	DES	c.67G>A (p.Gly23Ser)
2	g.219418529G>C	CA350682594	DES	c.67G>C (p.Gly23Arg)
2	g.219418529G>T	CA350682585	DES	c.67G>T (p.Gly23Cys)	gnomAD v4
2	g.219418536_219418537insGCTCGGCTTCCC	CA2754326337	DES	c.74_75insGCTCGGCTTCCC (p.Pro25_Leu26insLeuGlyPhePro)
2	g.219418533_219418544del	CA2663248857	DES	c.71_82del (p.Phe24_Gly27del)	gnomAD v4
2	g.219418530G>A	CA2125014	DES	c.68G>A (p.Gly23Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418530G>C	CA350682602	DES	c.68G>C (p.Gly23Ala)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418530G=	CA1329209835	DES	c.68G= (p.Gly23=)
2	g.219418530G>T	CA65980613	DES	c.68G>T (p.Gly23Val)	dbSNP gnomAD v4
2	g.219418531C>A	CA431427434	DES	c.69C>A (p.Gly23=)	gnomAD v4
2	g.219418531C>G	CA431427435	DES	c.69C>G (p.Gly23=)
2	g.219418531C>T	CA431427436	DES	c.69C>T (p.Gly23=)
2	g.219418532T>A	CA350682603	DES	c.70T>A (p.Phe24Ile)
2	g.219418532T>C	CA350682605	DES	c.70T>C (p.Phe24Leu)
2	g.219418532T>G	CA350682604	DES	c.70T>G (p.Phe24Val)
2	g.219418533T>A	CA350682615	DES	c.71T>A (p.Phe24Tyr)
2	g.219418533T>C	CA350682618	DES	c.71T>C (p.Phe24Ser)
2	g.219418533T>G	CA350682622	DES	c.71T>G (p.Phe24Cys)
2	g.219418533T=	CA1329209836	DES	c.71T= (p.Phe24=)
2	g.219418534C>A	CA350682626	DES	c.72C>A (p.Phe24Leu)	gnomAD v4
2	g.219418534C>G	CA350682628	DES	c.72C>G (p.Phe24Leu)
2	g.219418534C>T	CA431427437	DES	c.72C>T (p.Phe24=)
2	g.219418536_219418537insGCTCGGCTCCCC	CA539843107	DES	c.74_75insGCTCGGCTCCCC (p.Pro25_Leu26insLeuGlySerPro)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418535C>A	CA350682633	DES	c.73C>A (p.Pro25Thr)
2	g.219418535C=	CA1329209837	DES	c.73C= (p.Pro25=)
2	g.219418535C>G	CA350682640	DES	c.73C>G (p.Pro25Ala)	ClinVar
2	g.219418535C>T	CA350682642	DES	c.73C>T (p.Pro25Ser)	dbSNP gnomAD v2
2	g.219418536C>A	CA2125015	DES	c.74C>A (p.Pro25Gln)	dbSNP ExAC gnomAD v4
2	g.219418536C=	CA1329209838	DES	c.74C= (p.Pro25=)
2	g.219418536C>G	CA350682648	DES	c.74C>G (p.Pro25Arg)	gnomAD v4
2	g.219418536C>T	CA350682650	DES	c.74C>T (p.Pro25Leu)	gnomAD v4
2	g.219418536_219418537delinsTG	CA2573135504	DES	c.74_75delinsTG (p.Pro25Leu)	ClinVar
2	g.219418537A=	CA180796	DES	c.75A= (p.Pro25=)
2	g.219418537A>C	CA431427438	DES	c.75A>C (p.Pro25=)	dbSNP
2	g.219418537A>G	CA282355	DES	c.75A>G (p.Pro25=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418537A>T	CA431427439	DES	c.75A>T (p.Pro25=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418538C>A	CA350682673	DES	c.76C>A (p.Leu26Ile)	gnomAD v4
2	g.219418538C>G	CA350682686	DES	c.76C>G (p.Leu26Val)
2	g.219418538C>T	CA350682677	DES	c.76C>T (p.Leu26Phe)
2	g.219418539T>A	CA16617476	DES	c.77T>A (p.Leu26His)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418539T>C	CA350682691	DES	c.77T>C (p.Leu26Pro)	gnomAD v4
2	g.219418539T>G	CA350682696	DES	c.77T>G (p.Leu26Arg)
2	g.219418539T=	CA1329209839	DES	c.77T= (p.Leu26=)
2	g.219418540C>A	CA431427442	DES	c.78C>A (p.Leu26=)	gnomAD v4
2	g.219418540C=	CA1329209840	DES	c.78C= (p.Leu26=)
2	g.219418540C>G	CA431427440	DES	c.78C>G (p.Leu26=)	ClinVar dbSNP
2	g.219418540C>T	CA431427441	DES	c.78C>T (p.Leu26=)	dbSNP gnomAD v2 gnomAD v4
2	g.219418541G>A	CA184448	DES	c.79G>A (p.Gly27Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418541G>C	CA350682707	DES	c.79G>C (p.Gly27Arg)	ClinVar dbSNP gnomAD v4
2	g.219418541G=	CA1329209841	DES	c.79G= (p.Gly27=)
2	g.219418541G>T	CA350682711	DES	c.79G>T (p.Gly27Cys)
2	g.219418542G>A	CA350682712	DES	c.80G>A (p.Gly27Asp)	ClinVar dbSNP gnomAD v4
2	g.219418542G>C	CA350682713	DES	c.80G>C (p.Gly27Ala)
2	g.219418542G=	CA1329209842	DES	c.80G= (p.Gly27=)
2	g.219418542G>T	CA350682715	DES	c.80G>T (p.Gly27Val)	gnomAD v4 COSMIC
2	g.219418543C>A	CA431427443	DES	c.81C>A (p.Gly27=)	gnomAD v4
2	g.219418543C=	CA1329209843	DES	c.81C= (p.Gly27=)
2	g.219418543C>G	CA431427444	DES	c.81C>G (p.Gly27=)
2	g.219418543C>T	CA431427445	DES	c.81C>T (p.Gly27=)	dbSNP gnomAD v4
2	g.219418544T>A	CA350682727	DES	c.82T>A (p.Ser28Thr)
2	g.219418544T>C	CA350682721	DES	c.82T>C (p.Ser28Pro)	gnomAD v4
2	g.219418544T>G	CA350682716	DES	c.82T>G (p.Ser28Ala)
2	g.219418545C>A	CA350682730	DES	c.83C>A (p.Ser28Tyr)	gnomAD v4
2	g.219418545C=	CA1329209844	DES	c.83C= (p.Ser28=)
2	g.219418545C>G	CA350682734	DES	c.83C>G (p.Ser28Cys)
2	g.219418545C>T	CA350682745	DES	c.83C>T (p.Ser28Phe)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418546C>A	CA431427446	DES	c.84C>A (p.Ser28=)	dbSNP gnomAD v2 gnomAD v4
2	g.219418546C=	CA1329209845	DES	c.84C= (p.Ser28=)
2	g.219418546C>G	CA431427448	DES	c.84C>G (p.Ser28=)
2	g.219418546C>T	CA431427447	DES	c.84C>T (p.Ser28=)
2	g.219418551_219418571del	CA2577252443	DES	c.89_109del (p.Leu30_Pro36del)	gnomAD v4
2	g.219418547C>A	CA350682746	DES	c.85C>A (p.Pro29Thr)	gnomAD v4
2	g.219418547C>G	CA350682747	DES	c.85C>G (p.Pro29Ala)
2	g.219418547C>T	CA350682748	DES	c.85C>T (p.Pro29Ser)	gnomAD v4
2	g.219418548C>A	CA350682753	DES	c.86C>A (p.Pro29Gln)	gnomAD v4
2	g.219418548C=	CA1329209846	DES	c.86C= (p.Pro29=)
2	g.219418548C>G	CA350682749	DES	c.86C>G (p.Pro29Arg)	ClinVar gnomAD v4
2	g.219418548C>T	CA350682752	DES	c.86C>T (p.Pro29Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418549G>A	CA431427449	DES	c.87G>A (p.Pro29=)	gnomAD v4
2	g.219418549G>C	CA431427450	DES	c.87G>C (p.Pro29=)	COSMIC
2	g.219418549G>T	CA431427451	DES	c.87G>T (p.Pro29=)	ClinVar dbSNP gnomAD v4
2	g.219418550C>A	CA350682763	DES	c.88C>A (p.Leu30Met)	gnomAD v4
2	g.219418550C=	CA1329209847	DES	c.88C= (p.Leu30=)
2	g.219418550C>G	CA350682771	DES	c.88C>G (p.Leu30Val)
2	g.219418550C>T	CA431427452	DES	c.88C>T (p.Leu30=)	ClinVar dbSNP
2	g.219418551T>A	CA350682797	DES	c.89T>A (p.Leu30Gln)
2	g.219418551T>C	CA350682800	DES	c.89T>C (p.Leu30Pro)	gnomAD v4
2	g.219418551T>G	CA350682802	DES	c.89T>G (p.Leu30Arg)
2	g.219418552G>A	CA431427453	DES	c.90G>A (p.Leu30=)
2	g.219418552G>C	CA431427454	DES	c.90G>C (p.Leu30=)
2	g.219418552G>T	CA431427455	DES	c.90G>T (p.Leu30=)
2	g.219418553A=	CA1329209848	DES	c.91A= (p.Ser31=)
2	g.219418553A>C	CA350682807	DES	c.91A>C (p.Ser31Arg)
2	g.219418553A>G	CA350682825	DES	c.91A>G (p.Ser31Gly)
2	g.219418553A>T	CA350682818	DES	c.91A>T (p.Ser31Cys)	ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched