Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80104170_80104729del	CA2697555214	GAA	c.-32-385_143del	ClinVar
17	g.80104574_80104600delinsGCCATCTCCAACCATGGGAGTGAGGCA	CA2277810517	GAA	c.-13_14delinsGCCATCTCCAACCATGGGAGTGAGGCA
17	g.80104577_80104602del	CA986720612	GAA	c.-10_16del	dbSNP gnomAD v3 gnomAD v4
17	g.80104581C>G	CA2520242847	GAA	c.-6C>G (n.-6C>G)	gnomAD v4
17	g.80104581C>T	CA2640273876	GAA	c.-6C>T (n.-6C>T)	gnomAD v4
17	g.80104584A=	CA2277810521	GAA	c.-3A= (n.-3A=)
17	g.80104584A>G	CA8814754	GAA	c.-3A>G (n.-3A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104584A>T	CA8814753	GAA	c.-3A>T (n.-3A>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80104585C=	CA2277810522	GAA	c.-2C= (n.-2C=)
17	g.80104585C>T	CA8814755	GAA	c.-2C>T (n.-2C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104586_80104603del	CA2640273883	GAA	c.-1_17del	gnomAD v4
17	g.80104587A=	CA2277810523	GAA	c.1A= (p.Met1=)
17	g.80104587A>C	CA401359796	GAA	c.1A>C (p.Met1Leu)
17	g.80104587A>G	CA273952	GAA	c.1A>G (p.Met1Val)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80104587A>T	CA401359799	GAA	c.1A>T (p.Met1Leu)	ClinVar dbSNP
17	g.80104588T>A	CA401359806	GAA	c.2T>A (p.Met1Lys)
17	g.80104588T>C	CA401359804	GAA	c.2T>C (p.Met1Thr)	ClinVar dbSNP gnomAD v4
17	g.80104588T>G	CA401359802	GAA	c.2T>G (p.Met1Arg)
17	g.80104588T=	CA2277810524	GAA	c.2T= (p.Met1=)
17	g.80104589G>A	CA401359809	GAA	c.3G>A (p.Met1Ile)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80104589G>C	CA401359811	GAA	c.3G>C (p.Met1Ile)
17	g.80104589G=	CA2277810525	GAA	c.3G= (p.Met1=)
17	g.80104589G>T	CA401359814	GAA	c.3G>T (p.Met1Ile)	gnomAD v4
17	g.80104589_80104590delinsTT	CA2573054598	GAA	c.3_4delinsTT (p.Met1IlefsTer2)	ClinVar dbSNP
17	g.80104590G>A	CA401359817	GAA	c.4G>A (p.Gly2Arg)	dbSNP
17	g.80104590G>C	CA401359819	GAA	c.4G>C (p.Gly2Arg)
17	g.80104590G=	CA2277810526	GAA	c.4G= (p.Gly2=)
17	g.80104590G>T	CA401359822	GAA	c.4G>T (p.Gly2Ter)	ClinVar dbSNP gnomAD v4
17	g.80104591G>A	CA401359830	GAA	c.5G>A (p.Gly2Glu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104591G>C	CA401359825	GAA	c.5G>C (p.Gly2Ala)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80104591G=	CA2277810527	GAA	c.5G= (p.Gly2=)
17	g.80104591G>T	CA401359827	GAA	c.5G>T (p.Gly2Val)
17	g.80104592A>C	CA502176864	GAA	c.6A>C (p.Gly2=)
17	g.80104592A>G	CA502176861	GAA	c.6A>G (p.Gly2=)
17	g.80104592A>T	CA502176862	GAA	c.6A>T (p.Gly2=)
17	g.80104593G>A	CA401359833	GAA	c.7G>A (p.Val3Met)
17	g.80104593G>C	CA401359835	GAA	c.7G>C (p.Val3Leu)
17	g.80104593G>T	CA401359837	GAA	c.7G>T (p.Val3Leu)	gnomAD v4
17	g.80104594T>A	CA401359840	GAA	c.8T>A (p.Val3Glu)
17	g.80104594T>C	CA294886445	GAA	c.8T>C (p.Val3Ala)	ClinVar dbSNP gnomAD v4
17	g.80104594T>G	CA401359844	GAA	c.8T>G (p.Val3Gly)
17	g.80104594T=	CA2277810528	GAA	c.8T= (p.Val3=)
17	g.80104595G>A	CA502176871	GAA	c.9G>A (p.Val3=)
17	g.80104595G>C	CA502176872	GAA	c.9G>C (p.Val3=)
17	g.80104595G>T	CA502176874	GAA	c.9G>T (p.Val3=)
17	g.80104596A=	CA2277810529	GAA	c.10A= (p.Arg4=)
17	g.80104596A>C	CA502176875	GAA	c.10A>C (p.Arg4=)
17	g.80104596A>G	CA401359846	GAA	c.10A>G (p.Arg4Gly)	dbSNP
17	g.80104596A>T	CA401359848	GAA	c.10A>T (p.Arg4Trp)
17	g.80104597G>A	CA198768	GAA	c.11G>A (p.Arg4Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104597G>C	CA401359851	GAA	c.11G>C (p.Arg4Thr)
17	g.80104597G=	CA2277810530	GAA	c.11G= (p.Arg4=)
17	g.80104597G>T	CA401359853	GAA	c.11G>T (p.Arg4Met)
17	g.80104598G>A	CA502176881	GAA	c.12G>A (p.Arg4=)
17	g.80104598G>C	CA401359854	GAA	c.12G>C (p.Arg4Ser)
17	g.80104598G=	CA2277810531	GAA	c.12G= (p.Arg4=)
17	g.80104598G>T	CA401359856	GAA	c.12G>T (p.Arg4Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.80104599C>A	CA401359859	GAA	c.13C>A (p.His5Asn)
17	g.80104599C>G	CA401359863	GAA	c.13C>G (p.His5Asp)
17	g.80104599C>T	CA401359861	GAA	c.13C>T (p.His5Tyr)
17	g.80104600A=	CA2277810532	GAA	c.14A= (p.His5=)
17	g.80104600A>C	CA401359866	GAA	c.14A>C (p.His5Pro)	dbSNP
17	g.80104600A>G	CA401359868	GAA	c.14A>G (p.His5Arg)
17	g.80104600A>T	CA401359871	GAA	c.14A>T (p.His5Leu)
17	g.80104601C>A	CA401359874	GAA	c.15C>A (p.His5Gln)
17	g.80104601C>G	CA401359876	GAA	c.15C>G (p.His5Gln)
17	g.80104601C>T	CA502176888	GAA	c.15C>T (p.His5=)	gnomAD v4
17	g.80104602C>A	CA401359879	GAA	c.16C>A (p.Pro6Thr)
17	g.80104602C=	CA2277810533	GAA	c.16C= (p.Pro6=)
17	g.80104602C>G	CA401359881	GAA	c.16C>G (p.Pro6Ala)	dbSNP
17	g.80104602C>T	CA401359883	GAA	c.16C>T (p.Pro6Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80104603C>A	CA401359886	GAA	c.17C>A (p.Pro6Gln)	ClinVar dbSNP gnomAD v4
17	g.80104603C=	CA2277810534	GAA	c.17C= (p.Pro6=)
17	g.80104603C>G	CA401359889	GAA	c.17C>G (p.Pro6Arg)
17	g.80104603C>T	CA8814756	GAA	c.17C>T (p.Pro6Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104604G>A	CA8814757	GAA	c.18G>A (p.Pro6=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104604G>C	CA502176895	GAA	c.18G>C (p.Pro6=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104604G=	CA2277810535	GAA	c.18G= (p.Pro6=)
17	g.80104604G>T	CA502176897	GAA	c.18G>T (p.Pro6=)
17	g.80104604_80104611del	CA658795221	GAA	c.18_25del (p.Cys8ProfsTer24)
17	g.80104605C>A	CA401359899	GAA	c.19C>A (p.Pro7Thr)	dbSNP
17	g.80104605C=	CA2277810536	GAA	c.19C= (p.Pro7=)
17	g.80104605C>G	CA401359895	GAA	c.19C>G (p.Pro7Ala)
17	g.80104605C>T	CA401359897	GAA	c.19C>T (p.Pro7Ser)
17	g.80104606C>A	CA401359902	GAA	c.20C>A (p.Pro7His)
17	g.80104606C=	CA2277810537	GAA	c.20C= (p.Pro7=)
17	g.80104606C>G	CA401359904	GAA	c.20C>G (p.Pro7Arg)
17	g.80104606C>T	CA401359906	GAA	c.20C>T (p.Pro7Leu)	dbSNP
17	g.80104607C>A	CA502176904	GAA	c.21C>A (p.Pro7=)
17	g.80104607C>G	CA502176906	GAA	c.21C>G (p.Pro7=)
17	g.80104607C>T	CA502176908	GAA	c.21C>T (p.Pro7=)	ClinVar dbSNP gnomAD v4
17	g.80104608T>A	CA401359909	GAA	c.22T>A (p.Cys8Ser)
17	g.80104608T>C	CA401359912	GAA	c.22T>C (p.Cys8Arg)
17	g.80104608T>G	CA401359914	GAA	c.22T>G (p.Cys8Gly)
17	g.80104609G>A	CA8814758	GAA	c.23G>A (p.Cys8Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104609G>C	CA401359917	GAA	c.23G>C (p.Cys8Ser)
17	g.80104609G=	CA2277810538	GAA	c.23G= (p.Cys8=)
17	g.80104609G>T	CA401359919	GAA	c.23G>T (p.Cys8Phe)	gnomAD v4
17	g.80104610C>A	CA401359921	GAA	c.24C>A (p.Cys8Ter)
17	g.80104610C>G	CA401359924	GAA	c.24C>G (p.Cys8Trp)
17	g.80104610C>T	CA502176915	GAA	c.24C>T (p.Cys8=)	ClinVar
17	g.80104611del	CA658795222	GAA	c.25del (p.Ser9ProfsTer?)
17	g.80104611T>A	CA401359930	GAA	c.25T>A (p.Ser9Thr)
17	g.80104611T>C	CA10604542	GAA	c.25T>C (p.Ser9Pro)	ClinVar dbSNP
17	g.80104611T>G	CA401359927	GAA	c.25T>G (p.Ser9Ala)
17	g.80104611T=	CA2277810539	GAA	c.25T= (p.Ser9=)
17	g.80104612C>A	CA401359933	GAA	c.26C>A (p.Ser9Tyr)	gnomAD v4
17	g.80104612C=	CA2277810540	GAA	c.26C= (p.Ser9=)
17	g.80104612C>G	CA401359938	GAA	c.26C>G (p.Ser9Cys)	ClinVar dbSNP
17	g.80104612C>T	CA401359935	GAA	c.26C>T (p.Ser9Phe)	ClinVar dbSNP
17	g.80104613C>A	CA502176921	GAA	c.27C>A (p.Ser9=)
17	g.80104613C=	CA2277810541	GAA	c.27C= (p.Ser9=)
17	g.80104613C>G	CA502176925	GAA	c.27C>G (p.Ser9=)
17	g.80104613C>T	CA502176923	GAA	c.27C>T (p.Ser9=)	dbSNP
17	g.80104614C>A	CA401359940	GAA	c.28C>A (p.His10Asn)
17	g.80104614C=	CA2277810542	GAA	c.28C= (p.His10=)
17	g.80104614C>G	CA401359942	GAA	c.28C>G (p.His10Asp)
17	g.80104614C>T	CA401359943	GAA	c.28C>T (p.His10Tyr)	dbSNP gnomAD v2 gnomAD v4
17	g.80104615del	CA2573054599	GAA	c.29del (p.His10ProfsTer?)	dbSNP
17	g.80104615A>C	CA401359946	GAA	c.29A>C (p.His10Pro)
17	g.80104615A>G	CA401359948	GAA	c.29A>G (p.His10Arg)	dbSNP gnomAD v4
17	g.80104615A>T	CA401359950	GAA	c.29A>T (p.His10Leu)	ClinVar gnomAD v4
17	g.80104616C>A	CA401359953	GAA	c.30C>A (p.His10Gln)
17	g.80104616C=	CA2277810543	GAA	c.30C= (p.His10=)
17	g.80104616C>G	CA401359954	GAA	c.30C>G (p.His10Gln)	dbSNP
17	g.80104616C>T	CA502176932	GAA	c.30C>T (p.His10=)	ClinVar gnomAD v4
17	g.80104617C>A	CA502176934	GAA	c.31C>A (p.Arg11=)
17	g.80104617C=	CA2277810544	GAA	c.31C= (p.Arg11=)
17	g.80104617C>G	CA401359956	GAA	c.31C>G (p.Arg11Gly)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80104617C>T	CA8814759	GAA	c.31C>T (p.Arg11Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104618G>A	CA8814760	GAA	c.32G>A (p.Arg11Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104618G>C	CA401359961	GAA	c.32G>C (p.Arg11Pro)
17	g.80104618G=	CA2277810545	GAA	c.32G= (p.Arg11=)
17	g.80104618G>T	CA8814761	GAA	c.32G>T (p.Arg11Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104619_80104633del	CA2518182731	GAA	c.33_47del (p.Leu12_Cys16del)
17	g.80104619G>A	CA502176940	GAA	c.33G>A (p.Arg11=)	gnomAD v4
17	g.80104619G>C	CA502176941	GAA	c.33G>C (p.Arg11=)
17	g.80104619G>T	CA502176943	GAA	c.33G>T (p.Arg11=)
17	g.80104620C>A	CA401359965	GAA	c.34C>A (p.Leu12Ile)
17	g.80104620C=	CA2277810546	GAA	c.34C= (p.Leu12=)
17	g.80104620C>G	CA401359968	GAA	c.34C>G (p.Leu12Val)
17	g.80104620C>T	CA8814763	GAA	c.34C>T (p.Leu12Phe)	dbSNP ExAC gnomAD v2
17	g.80104620_80104624delinsCTCCT	CA2277810547	GAA	c.34_38delinsCTCCT (p.Leu12=)
17	g.80104621T>A	CA401359971	GAA	c.35T>A (p.Leu12His)
17	g.80104621T>C	CA8814764	GAA	c.35T>C (p.Leu12Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104621T>G	CA401359974	GAA	c.35T>G (p.Leu12Arg)
17	g.80104621T=	CA2277810548	GAA	c.35T= (p.Leu12=)
17	g.80104621_80104624del	CA8814762	GAA	c.35_38del (p.Leu12ArgfsTer30)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104622C>A	CA502176953	GAA	c.36C>A (p.Leu12=)
17	g.80104622C=	CA2277810549	GAA	c.36C= (p.Leu12=)
17	g.80104622C>G	CA502176956	GAA	c.36C>G (p.Leu12=)
17	g.80104622C>T	CA8814765	GAA	c.36C>T (p.Leu12=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104623C>A	CA401359979	GAA	c.37C>A (p.Leu13Met)
17	g.80104623C=	CA2277810550	GAA	c.37C= (p.Leu13=)
17	g.80104623C>G	CA401359981	GAA	c.37C>G (p.Leu13Val)
17	g.80104623C>T	CA502176958	GAA	c.37C>T (p.Leu13=)	dbSNP
17	g.80104626_80104633del	CA913184761	GAA	c.40_47del (p.Ala14ArgfsTer18)	ClinVar
17	g.80104624T>A	CA401359984	GAA	c.38T>A (p.Leu13Gln)
17	g.80104624T>C	CA401359987	GAA	c.38T>C (p.Leu13Pro)
17	g.80104624T>G	CA401359989	GAA	c.38T>G (p.Leu13Arg)
17	g.80104625G>A	CA502176962	GAA	c.39G>A (p.Leu13=)
17	g.80104625G>C	CA502176964	GAA	c.39G>C (p.Leu13=)
17	g.80104625G>T	CA502176965	GAA	c.39G>T (p.Leu13=)
17	g.80104625_80104630delinsGGCCGT	CA2277810551	GAA	c.39_44delinsGGCCGT (p.Leu13=)
17	g.80104626G>A	CA401359995	GAA	c.40G>A (p.Ala14Thr)	gnomAD v4
17	g.80104626G>C	CA401359994	GAA	c.40G>C (p.Ala14Pro)
17	g.80104626G>T	CA401359996	GAA	c.40G>T (p.Ala14Ser)
17	g.80104626_80104630del	CA8814766	GAA	c.40_44del (p.Ala14LeufsTer19)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104627C>A	CA401359999	GAA	c.41C>A (p.Ala14Asp)
17	g.80104627C=	CA2277810552	GAA	c.41C= (p.Ala14=)
17	g.80104627C>G	CA401360001	GAA	c.41C>G (p.Ala14Gly)
17	g.80104627C>T	CA401360004	GAA	c.41C>T (p.Ala14Val)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80104628C>A	CA502176972	GAA	c.42C>A (p.Ala14=)
17	g.80104628C=	CA2277810553	GAA	c.42C= (p.Ala14=)
17	g.80104628C>G	CA8814767	GAA	c.42C>G (p.Ala14=)	ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
17	g.80104628C>T	CA294886481	GAA	c.42C>T (p.Ala14=)	ClinVar dbSNP gnomAD v4
17	g.80104629G>A	CA8814768	GAA	c.43G>A (p.Val15Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104629G>C	CA401360010	GAA	c.43G>C (p.Val15Leu)
17	g.80104629G=	CA2277810554	GAA	c.43G= (p.Val15=)
17	g.80104629G>T	CA401360013	GAA	c.43G>T (p.Val15Phe)	gnomAD v4
17	g.80104630T>A	CA401360017	GAA	c.44T>A (p.Val15Asp)
17	g.80104630T>C	CA401360018	GAA	c.44T>C (p.Val15Ala)
17	g.80104630T>G	CA401360021	GAA	c.44T>G (p.Val15Gly)
17	g.80104630dup	CA8814769	GAA	c.44dup (p.Cys16LeufsTer19)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104631C>A	CA502176981	GAA	c.45C>A (p.Val15=)
17	g.80104631C>G	CA502176982	GAA	c.45C>G (p.Val15=)
17	g.80104631C>T	CA502176984	GAA	c.45C>T (p.Val15=)
17	g.80104632T>A	CA401360028	GAA	c.46T>A (p.Cys16Ser)
17	g.80104632T>C	CA401360026	GAA	c.46T>C (p.Cys16Arg)
17	g.80104632T>G	CA401360023	GAA	c.46T>G (p.Cys16Gly)
17	g.80104633G>A	CA401360031	GAA	c.47G>A (p.Cys16Tyr)
17	g.80104633G>C	CA8814770	GAA	c.47G>C (p.Cys16Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104633G=	CA2277810555	GAA	c.47G= (p.Cys16=)
17	g.80104633G>T	CA401360035	GAA	c.47G>T (p.Cys16Phe)
17	g.80104634C>A	CA401360038	GAA	c.48C>A (p.Cys16Ter)	gnomAD v4
17	g.80104634C=	CA2277810556	GAA	c.48C= (p.Cys16=)
17	g.80104634C>G	CA401360040	GAA	c.48C>G (p.Cys16Trp)	gnomAD v4
17	g.80104634C>T	CA8814771	GAA	c.48C>T (p.Cys16=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80104635G>A	CA8814772	GAA	c.49G>A (p.Ala17Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104635G>C	CA401360046	GAA	c.49G>C (p.Ala17Pro)	dbSNP
17	g.80104635G=	CA2277810557	GAA	c.49G= (p.Ala17=)
17	g.80104635G>T	CA401360048	GAA	c.49G>T (p.Ala17Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80104636C>A	CA401360051	GAA	c.50C>A (p.Ala17Asp)
17	g.80104636C=	CA2277810558	GAA	c.50C= (p.Ala17=)
17	g.80104636C>G	CA401360053	GAA	c.50C>G (p.Ala17Gly)
17	g.80104636C>T	CA8814773	GAA	c.50C>T (p.Ala17Val)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104637C>A	CA502176996	GAA	c.51C>A (p.Ala17=)
17	g.80104637C>G	CA502176998	GAA	c.51C>G (p.Ala17=)
17	g.80104637C>T	CA502177000	GAA	c.51C>T (p.Ala17=)
17	g.80104638_80104640del	CA2640274157	GAA	c.52_54del (p.Leu18del)	gnomAD v4
17	g.80104638C>A	CA401360062	GAA	c.52C>A (p.Leu18Ile)
17	g.80104638C=	CA2277810559	GAA	c.52C= (p.Leu18=)
17	g.80104638C>G	CA401360059	GAA	c.52C>G (p.Leu18Val)
17	g.80104638C>T	CA401360057	GAA	c.52C>T (p.Leu18Phe)	ClinVar dbSNP
17	g.80104639T>A	CA401360064	GAA	c.53T>A (p.Leu18His)
17	g.80104639T>C	CA401360068	GAA	c.53T>C (p.Leu18Pro)
17	g.80104639T>G	CA401360065	GAA	c.53T>G (p.Leu18Arg)
17	g.80104640C>A	CA502177006	GAA	c.54C>A (p.Leu18=)
17	g.80104640C=	CA2277810560	GAA	c.54C= (p.Leu18=)
17	g.80104640C>G	CA502177008	GAA	c.54C>G (p.Leu18=)	ClinVar dbSNP gnomAD v4
17	g.80104640C>T	CA10647040	GAA	c.54C>T (p.Leu18=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80104640_80104641del	CA913014071	GAA	c.54_55del (p.Ser20LeufsTer14)
17	g.80104640_80104641delinsCG	CA2277810561	GAA	c.54_55delinsCG (p.Leu18=)
17	g.80104641del	CA658824772	GAA	c.55del (p.Val19CysfsTer24)	ClinVar dbSNP
17	g.80104641G>A	CA8814774	GAA	c.55G>A (p.Val19Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104641G>C	CA401360073	GAA	c.55G>C (p.Val19Leu)
17	g.80104641G=	CA2277810562	GAA	c.55G= (p.Val19=)
17	g.80104641G>T	CA401360075	GAA	c.55G>T (p.Val19Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.80104642T>A	CA401360077	GAA	c.56T>A (p.Val19Glu)
17	g.80104642T>C	CA401360079	GAA	c.56T>C (p.Val19Ala)	gnomAD v4
17	g.80104642T>G	CA401360081	GAA	c.56T>G (p.Val19Gly)
17	g.80104643G>A	CA502177014	GAA	c.57G>A (p.Val19=)
17	g.80104643G>C	CA502177016	GAA	c.57G>C (p.Val19=)
17	g.80104643G>T	CA502177020	GAA	c.57G>T (p.Val19=)
17	g.80104644T>A	CA401360089	GAA	c.58T>A (p.Ser20Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104644T>C	CA401360084	GAA	c.58T>C (p.Ser20Pro)
17	g.80104644T>G	CA401360086	GAA	c.58T>G (p.Ser20Ala)
17	g.80104644T=	CA2277810563	GAA	c.58T= (p.Ser20=)
17	g.80104645C>A	CA401360091	GAA	c.59C>A (p.Ser20Tyr)
17	g.80104645C=	CA2277810564	GAA	c.59C= (p.Ser20=)
17	g.80104645C>G	CA16607527	GAA	c.59C>G (p.Ser20Cys)	ClinVar dbSNP gnomAD v4
17	g.80104645C>T	CA8814775	GAA	c.59C>T (p.Ser20Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104646C>A	CA502177027	GAA	c.60C>A (p.Ser20=)
17	g.80104646C=	CA2277810565	GAA	c.60C= (p.Ser20=)
17	g.80104646C>G	CA502177028	GAA	c.60C>G (p.Ser20=)	dbSNP gnomAD v4
17	g.80104646C>T	CA502177029	GAA	c.60C>T (p.Ser20=)
17	g.80104647T>A	CA401360095	GAA	c.61T>A (p.Leu21Met)
17	g.80104647T>C	CA502177030	GAA	c.61T>C (p.Leu21=)
17	g.80104647T>G	CA401360097	GAA	c.61T>G (p.Leu21Val)
17	g.80104648T>A	CA401360100	GAA	c.62T>A (p.Leu21Ter)
17	g.80104648T>C	CA401360104	GAA	c.62T>C (p.Leu21Ser)
17	g.80104648T>G	CA401360102	GAA	c.62T>G (p.Leu21Trp)
17	g.80104649G>A	CA502177034	GAA	c.63G>A (p.Leu21=)
17	g.80104649G>C	CA401360106	GAA	c.63G>C (p.Leu21Phe)
17	g.80104649G>T	CA401360108	GAA	c.63G>T (p.Leu21Phe)	gnomAD v4
17	g.80104650G>A	CA401360111	GAA	c.64G>A (p.Ala22Thr)	dbSNP gnomAD v2 gnomAD v4
17	g.80104650G>C	CA401360113	GAA	c.64G>C (p.Ala22Pro)
17	g.80104650G=	CA2277810566	GAA	c.64G= (p.Ala22=)
17	g.80104650G>T	CA401360116	GAA	c.64G>T (p.Ala22Ser)
17	g.80104651C>A	CA401360119	GAA	c.65C>A (p.Ala22Glu)	gnomAD v4
17	g.80104651C=	CA2277810567	GAA	c.65C= (p.Ala22=)
17	g.80104651C>G	CA401360121	GAA	c.65C>G (p.Ala22Gly)
17	g.80104651C>T	CA8814776	GAA	c.65C>T (p.Ala22Val)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104652A>C	CA502177040	GAA	c.66A>C (p.Ala22=)	gnomAD v4
17	g.80104652A>G	CA502177041	GAA	c.66A>G (p.Ala22=)
17	g.80104652A>T	CA502177043	GAA	c.66A>T (p.Ala22=)	gnomAD v4
17	g.80104653A=	CA2277810568	GAA	c.67A= (p.Thr23=)
17	g.80104653A>C	CA401360126	GAA	c.67A>C (p.Thr23Pro)	gnomAD v4
17	g.80104653A>G	CA8814777	GAA	c.67A>G (p.Thr23Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104653A>T	CA401360129	GAA	c.67A>T (p.Thr23Ser)
17	g.80104654C>A	CA401360132	GAA	c.68C>A (p.Thr23Asn)
17	g.80104654C=	CA2277810569	GAA	c.68C= (p.Thr23=)
17	g.80104654C>G	CA401360136	GAA	c.68C>G (p.Thr23Ser)
17	g.80104654C>T	CA401360134	GAA	c.68C>T (p.Thr23Ile)	ClinVar dbSNP
17	g.80104655C>A	CA8814778	GAA	c.69C>A (p.Thr23=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104655C=	CA2277810570	GAA	c.69C= (p.Thr23=)
17	g.80104655C>G	CA502177050	GAA	c.69C>G (p.Thr23=)	gnomAD v4
17	g.80104655C>T	CA8814779	GAA	c.69C>T (p.Thr23=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104656G>A	CA8814780	GAA	c.70G>A (p.Ala24Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104656G>C	CA401360144	GAA	c.70G>C (p.Ala24Pro)
17	g.80104656G=	CA2277810571	GAA	c.70G= (p.Ala24=)
17	g.80104656G>T	CA401360146	GAA	c.70G>T (p.Ala24Ser)
17	g.80104657C>A	CA401360149	GAA	c.71C>A (p.Ala24Asp)
17	g.80104657C=	CA2277810572	GAA	c.71C= (p.Ala24=)
17	g.80104657C>G	CA401360152	GAA	c.71C>G (p.Ala24Gly)
17	g.80104657C>T	CA294886529	GAA	c.71C>T (p.Ala24Val)	dbSNP
17	g.80104658T>A	CA502177056	GAA	c.72T>A (p.Ala24=)
17	g.80104658T>C	CA8814781	GAA	c.72T>C (p.Ala24=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104658T>G	CA502177059	GAA	c.72T>G (p.Ala24=)
17	g.80104658T=	CA2277810573	GAA	c.72T= (p.Ala24=)
17	g.80104659G>A	CA401360158	GAA	c.73G>A (p.Ala25Thr)	gnomAD v4
17	g.80104659G>C	CA401360161	GAA	c.73G>C (p.Ala25Pro)
17	g.80104659G>T	CA401360163	GAA	c.73G>T (p.Ala25Ser)	gnomAD v4
17	g.80104663_80104673del	CA2640274215	GAA	c.77_87del (p.Leu26HisfsTer5)	gnomAD v4
17	g.80104660C>A	CA401360170	GAA	c.74C>A (p.Ala25Glu)
17	g.80104660C=	CA2277810574	GAA	c.74C= (p.Ala25=)
17	g.80104660C>G	CA401360166	GAA	c.74C>G (p.Ala25Gly)
17	g.80104660C>T	CA8814782	GAA	c.74C>T (p.Ala25Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104661A=	CA2277810575	GAA	c.75A= (p.Ala25=)
17	g.80104661A>C	CA502177064	GAA	c.75A>C (p.Ala25=)	ClinVar dbSNP
17	g.80104661A>G	CA502177066	GAA	c.75A>G (p.Ala25=)	ClinVar dbSNP gnomAD v4
17	g.80104661A>T	CA502177068	GAA	c.75A>T (p.Ala25=)	ClinVar
17	g.80104662C>A	CA401360172	GAA	c.76C>A (p.Leu26Ile)
17	g.80104662C=	CA2277810576	GAA	c.76C= (p.Leu26=)
17	g.80104662C>G	CA401360174	GAA	c.76C>G (p.Leu26Val)
17	g.80104662C>T	CA8814783	GAA	c.76C>T (p.Leu26Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104663T>A	CA401360178	GAA	c.77T>A (p.Leu26His)
17	g.80104663T>C	CA401360180	GAA	c.77T>C (p.Leu26Pro)
17	g.80104663T>G	CA401360183	GAA	c.77T>G (p.Leu26Arg)	ClinVar dbSNP
17	g.80104663T=	CA2277810577	GAA	c.77T= (p.Leu26=)
17	g.80104664C>A	CA502177073	GAA	c.78C>A (p.Leu26=)
17	g.80104664C>G	CA502177074	GAA	c.78C>G (p.Leu26=)
17	g.80104664C>T	CA502177072	GAA	c.78C>T (p.Leu26=)	ClinVar dbSNP gnomAD v4
17	g.80104665C>A	CA401360186	GAA	c.79C>A (p.Leu27Met)
17	g.80104665C=	CA2277810578	GAA	c.79C= (p.Leu27=)
17	g.80104665C>G	CA8814784	GAA	c.79C>G (p.Leu27Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104665C>T	CA502177075	GAA	c.79C>T (p.Leu27=)	ClinVar dbSNP gnomAD v4
17	g.80104666T>A	CA401360189	GAA	c.80T>A (p.Leu27Gln)
17	g.80104666T>C	CA401360190	GAA	c.80T>C (p.Leu27Pro)
17	g.80104666T>G	CA401360192	GAA	c.80T>G (p.Leu27Arg)
17	g.80104667G>A	CA502177076	GAA	c.81G>A (p.Leu27=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104667G>C	CA502177077	GAA	c.81G>C (p.Leu27=)
17	g.80104667G=	CA2277810579	GAA	c.81G= (p.Leu27=)
17	g.80104667G>T	CA502177078	GAA	c.81G>T (p.Leu27=)	gnomAD v4
17	g.80104670dup	CA2695200345	GAA	c.84dup (p.His29AlafsTer6)	ClinVar
17	g.80104668G>A	CA294886548	GAA	c.82G>A (p.Gly28Arg)	dbSNP
17	g.80104668G>C	CA401360197	GAA	c.82G>C (p.Gly28Arg)
17	g.80104668G=	CA2277810580	GAA	c.82G= (p.Gly28=)
17	g.80104668G>T	CA401360195	GAA	c.82G>T (p.Gly28Trp)
17	g.80104669G>A	CA401360200	GAA	c.83G>A (p.Gly28Glu)	dbSNP gnomAD v4
17	g.80104669G>C	CA401360202	GAA	c.83G>C (p.Gly28Ala)
17	g.80104669G=	CA2277810581	GAA	c.83G= (p.Gly28=)
17	g.80104669G>T	CA10604460	GAA	c.83G>T (p.Gly28Val)	ClinVar dbSNP
17	g.80104670G>A	CA8814785	GAA	c.84G>A (p.Gly28=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104670G>C	CA502177080	GAA	c.84G>C (p.Gly28=)	ClinVar
17	g.80104670G=	CA2277810582	GAA	c.84G= (p.Gly28=)
17	g.80104670G>T	CA502177079	GAA	c.84G>T (p.Gly28=)
17	g.80104671C>A	CA401360209	GAA	c.85C>A (p.His29Asn)
17	g.80104671C=	CA2277810583	GAA	c.85C= (p.His29=)
17	g.80104671C>G	CA401360211	GAA	c.85C>G (p.His29Asp)
17	g.80104671C>T	CA294886572	GAA	c.85C>T (p.His29Tyr)	dbSNP gnomAD v3 gnomAD v4
17	g.80104672A>C	CA401360220	GAA	c.86A>C (p.His29Pro)
17	g.80104672A>G	CA401360215	GAA	c.86A>G (p.His29Arg)
17	g.80104672A>T	CA401360217	GAA	c.86A>T (p.His29Leu)
17	g.80104673C>A	CA401360221	GAA	c.87C>A (p.His29Gln)
17	g.80104673C=	CA2277810584	GAA	c.87C= (p.His29=)
17	g.80104673C>G	CA401360222	GAA	c.87C>G (p.His29Gln)
17	g.80104673C>T	CA502177081	GAA	c.87C>T (p.His29=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80104674A>C	CA401360223	GAA	c.88A>C (p.Ile30Leu)
17	g.80104674A>G	CA401360224	GAA	c.88A>G (p.Ile30Val)
17	g.80104674A>T	CA401360225	GAA	c.88A>T (p.Ile30Phe)
17	g.80104675T>A	CA401360226	GAA	c.89T>A (p.Ile30Asn)
17	g.80104675T>C	CA401360228	GAA	c.89T>C (p.Ile30Thr)
17	g.80104675T>G	CA401360227	GAA	c.89T>G (p.Ile30Ser)
17	g.80104676C>A	CA502177082	GAA	c.90C>A (p.Ile30=)
17	g.80104676C>G	CA401360229	GAA	c.90C>G (p.Ile30Met)
17	g.80104676C>T	CA502177083	GAA	c.90C>T (p.Ile30=)
17	g.80104676_80104679delinsCCTA	CA2277810585	GAA	c.90_93delinsCCTA (p.Ile30=)
17	g.80104677C>A	CA401360230	GAA	c.91C>A (p.Leu31Ile)
17	g.80104677C=	CA2277810586	GAA	c.91C= (p.Leu31=)
17	g.80104677C>G	CA401360231	GAA	c.91C>G (p.Leu31Val)	dbSNP
17	g.80104677C>T	CA502177084	GAA	c.91C>T (p.Leu31=)	ClinVar dbSNP
17	g.80104679_80104681del	CA628018663	GAA	c.93_95del (p.Leu32del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104678T>A	CA401360232	GAA	c.92T>A (p.Leu31Gln)
17	g.80104678T>C	CA401360233	GAA	c.92T>C (p.Leu31Pro)
17	g.80104678T>G	CA401360234	GAA	c.92T>G (p.Leu31Arg)
17	g.80104679A>C	CA502177085	GAA	c.93A>C (p.Leu31=)
17	g.80104679A>G	CA502177086	GAA	c.93A>G (p.Leu31=)	dbSNP
17	g.80104679A>T	CA502177087	GAA	c.93A>T (p.Leu31=)

Number of alleles fetched