Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80108679_80116948del	CA913184754	GAA	c.1195-18_2190-20del c.1195-18_*328-20del
17	g.80108678_80116951del	CA658795244	GAA	c.1195-19_2190-17del c.1195-19_*328-17del	ClinVar
17	g.80110683dup	CA986707198	GAA	c.1438-44dup (n.1438-44dup)	gnomAD v3 gnomAD v4
17	g.80110683del	CA775514289	GAA	c.1438-44del (n.1438-44del)	dbSNP gnomAD v3 gnomAD v4
17	g.80110685G>C	CA2576414096	GAA	c.1438-42G>C (n.1438-42G>C)
17	g.80110685G>T	CA2576414097	GAA	c.1438-42G>T (n.1438-42G>T)
17	g.80110687del	CA2640288109	GAA	c.1438-40del (n.1438-40del)	gnomAD v4
17	g.80110686G>A	CA8815336	GAA	c.1438-41G>A (n.1438-41G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80110686G>C	CA8815335	GAA	c.1438-41G>C (n.1438-41G>C)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80110686G=	CA2277814022	GAA	c.1438-41G= (n.1438-41G=)
17	g.80110687G>A	CA2559650578	GAA	c.1438-40G>A (n.1438-40G>A)	gnomAD v4
17	g.80110687G=	CA2277814023	GAA	c.1438-40G= (n.1438-40G=)
17	g.80110687G>T	CA627699571	GAA	c.1438-40G>T (n.1438-40G>T)	dbSNP gnomAD v2 gnomAD v4
17	g.80110688T>C	CA2640288117	GAA	c.1438-39T>C (n.1438-39T>C)	gnomAD v4
17	g.80110688T>G	CA2277814024	GAA	c.1438-39T>G (n.1438-39T>G)	dbSNP
17	g.80110688T=	CA2277814025	GAA	c.1438-39T= (n.1438-39T=)
17	g.80110689G>T	CA2640288120	GAA	c.1438-38G>T (n.1438-38G>T)	gnomAD v4
17	g.80110692del	CA2576414098	GAA	c.1438-35del (n.1438-35del)	gnomAD v4
17	g.80110690G>T	CA2640288121	GAA	c.1438-37G>T (n.1438-37G>T)	gnomAD v4
17	g.80110691G>A	CA8815337	GAA	c.1438-36G>A (n.1438-36G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80110691G>C	CA2576414099	GAA	c.1438-36G>C (n.1438-36G>C)
17	g.80110691G=	CA2277814026	GAA	c.1438-36G= (n.1438-36G=)
17	g.80110692G>A	CA2640288127	GAA	c.1438-35G>A (n.1438-35G>A)	gnomAD v4
17	g.80110692G>C	CA2640288129	GAA	c.1438-35G>C (n.1438-35G>C)	gnomAD v4
17	g.80110692G>T	CA2832366071	GAA	c.1438-35G>T (n.1438-35G>T)
17	g.80110692_80110693delinsGC	CA2277814027	GAA	c.1438-35_1438-34delinsGC (n.1438-35_1438-34delinsGC)
17	g.80110693C>A	CA2640288132	GAA	c.1438-34C>A (n.1438-34C>A)	gnomAD v4
17	g.80110694del	CA8815338	GAA	c.1438-33del (n.1438-33del)	dbSNP ExAC gnomAD v3 gnomAD v4
17	g.80110694C=	CA2277814028	GAA	c.1438-33C= (n.1438-33C=)
17	g.80110694C>T	CA8815339	GAA	c.1438-33C>T (n.1438-33C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110695G>A	CA8815340	GAA	c.1438-32G>A (n.1438-32G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110695G=	CA2277814029	GAA	c.1438-32G= (n.1438-32G=)
17	g.80110696G>C	CA2277814031	GAA	c.1438-31G>C (n.1438-31G>C)	dbSNP gnomAD v4
17	g.80110696G=	CA2277814030	GAA	c.1438-31G= (n.1438-31G=)
17	g.80110697G>T	CA656889770	GAA	c.1438-30G>T (n.1438-30G>T)	COSMIC
17	g.80110698T>A	CA2640288141	GAA	c.1438-29T>A (n.1438-29T>A)	gnomAD v4
17	g.80110698T>C	CA8815341	GAA	c.1438-29T>C (n.1438-29T>C)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80110698T=	CA2277814032	GAA	c.1438-29T= (n.1438-29T=)
17	g.80110699C>A	CA2640288149	GAA	c.1438-28C>A (n.1438-28C>A)	gnomAD v4
17	g.80110699C>T	CA2810585769	GAA	c.1438-28C>T (n.1438-28C>T)
17	g.80110702C=	CA2277814033	GAA	c.1438-25C= (n.1438-25C=)
17	g.80110702C>T	CA2277814034	GAA	c.1438-25C>T (n.1438-25C>T)	dbSNP
17	g.80110703C>A	CA2640288152	GAA	c.1438-24C>A (n.1438-24C>A)	gnomAD v4
17	g.80110704C>A	CA2640288157	GAA	c.1438-23C>A (n.1438-23C>A)	gnomAD v4
17	g.80110704C=	CA2277814035	GAA	c.1438-23C= (n.1438-23C=)
17	g.80110704C>T	CA775514304	GAA	c.1438-23C>T (n.1438-23C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.80110705A>G	CA2640288158	GAA	c.1438-22A>G (n.1438-22A>G)	gnomAD v4
17	g.80110706C>A	CA627699573	GAA	c.1438-21C>A (n.1438-21C>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110706C=	CA2277814036	GAA	c.1438-21C= (n.1438-21C=)
17	g.80110706C>T	CA2640288161	GAA	c.1438-21C>T (n.1438-21C>T)	gnomAD v4
17	g.80110708G>A	CA2576414100	GAA	c.1438-19G>A (n.1438-19G>A)	ClinVar gnomAD v4
17	g.80110708G>C	CA145756	GAA	c.1438-19G>C (n.1438-19G>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110708G=	CA2277814037	GAA	c.1438-19G= (n.1438-19G=)
17	g.80110708G>T	CA2581285033	GAA	c.1438-19G>T (n.1438-19G>T)
17	g.80110708_80110723delinsGCAGCCTCTCGTTGTC	CA2277814038	GAA	c.1438-19_1438-4delinsGCAGCCTCTCGTTGTC (n.1438-19_1438-4delinsGCAGCCTCTCGTTGTC)
17	g.80110709C=	CA2277814039	GAA	c.1438-18C= (n.1438-18C=)
17	g.80110709C>T	CA8815342	GAA	c.1438-18C>T (n.1438-18C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80110712_80110726del	CA913191007	GAA	c.1438-15_1438-1del (n.1438-15_1438-1del)	ClinVar dbSNP
17	g.80110710A=	CA2277814040	GAA	c.1438-17A= (n.1438-17A=)
17	g.80110710A>C	CA2810585777	GAA	c.1438-17A>C (n.1438-17A>C)
17	g.80110710A>G	CA294894799	GAA	c.1438-17A>G (n.1438-17A>G)	dbSNP gnomAD v3 gnomAD v4
17	g.80110712C>A	CA2640288173	GAA	c.1438-15C>A (n.1438-15C>A)	gnomAD v4
17	g.80110712C=	CA2277814041	GAA	c.1438-15C= (n.1438-15C=)
17	g.80110712C>T	CA294894801	GAA	c.1438-15C>T (n.1438-15C>T)	dbSNP
17	g.80110713C=	CA2277814042	GAA	c.1438-14C= (n.1438-14C=)
17	g.80110713C>G	CA2277814043	GAA	c.1438-14C>G (n.1438-14C>G)	dbSNP
17	g.80110713C>T	CA2640288176	GAA	c.1438-14C>T (n.1438-14C>T)	ClinVar gnomAD v4
17	g.80110714T>C	CA2277814044	GAA	c.1438-13T>C (n.1438-13T>C)	ClinVar dbSNP gnomAD v4
17	g.80110714T=	CA2277814045	GAA	c.1438-13T= (n.1438-13T=)
17	g.80110715C=	CA2277814046	GAA	c.1438-12C= (n.1438-12C=)
17	g.80110715C>G	CA627699574	GAA	c.1438-12C>G (n.1438-12C>G)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110715C>T	CA2277814047	GAA	c.1438-12C>T (n.1438-12C>T)	ClinVar dbSNP gnomAD v4
17	g.80110716T>A	CA8815343	GAA	c.1438-11T>A (n.1438-11T>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110716T=	CA2277814048	GAA	c.1438-11T= (n.1438-11T=)
17	g.80110717C>A	CA2640288193	GAA	c.1438-10C>A (n.1438-10C>A)	gnomAD v4
17	g.80110717C=	CA2277814050	GAA	c.1438-10C= (n.1438-10C=)
17	g.80110717C>G	CA2499225011	GAA	c.1438-10C>G (n.1438-10C>G)	ClinVar dbSNP
17	g.80110717C>T	CA294894802	GAA	c.1438-10C>T (n.1438-10C>T)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110717dup	CA2640288192	GAA	c.1438-10dup (n.1438-10dup)	gnomAD v4
17	g.80110717_80110720delinsCGTT	CA2277814049	GAA	c.1438-10_1438-7delinsCGTT (n.1438-10_1438-7delinsCGTT)
17	g.80110718G>A	CA8815345	GAA	c.1438-9G>A (n.1438-9G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110718G>C	CA2697555218	GAA	c.1438-9G>C (n.1438-9G>C)	ClinVar
17	g.80110718G=	CA2277814051	GAA	c.1438-9G= (n.1438-9G=)
17	g.80110718G>T	CA2573154970	GAA	c.1438-9G>T (n.1438-9G>T)	ClinVar dbSNP gnomAD v4
17	g.80110720_80110722del	CA8815344	GAA	c.1438-7_1438-5del (n.1438-7_1438-5del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110719T>A	CA2640288209	GAA	c.1438-8T>A (n.1438-8T>A)	gnomAD v4
17	g.80110720T>C	CA775514322	GAA	c.1438-7T>C (n.1438-7T>C)	ClinVar dbSNP gnomAD v4
17	g.80110720T=	CA2277814052	GAA	c.1438-7T= (n.1438-7T=)
17	g.80110721G>A	CA775514323	GAA	c.1438-6G>A (n.1438-6G>A)	dbSNP
17	g.80110721G>C	CA2573154972	GAA	c.1438-6G>C (n.1438-6G>C)	ClinVar dbSNP
17	g.80110721G=	CA2277814053	GAA	c.1438-6G= (n.1438-6G=)
17	g.80110724C=	CA2277814054	GAA	c.1438-3C= (n.1438-3C=)
17	g.80110724C>G	CA986707233	GAA	c.1438-3C>G (n.1438-3C>G)	dbSNP gnomAD v3 gnomAD v4
17	g.80110725A=	CA2277814055	GAA	c.1438-2A= (n.1438-2A=)
17	g.80110725A>C	CA401366753	GAA	c.1438-2A>C (n.1438-2A>C)	ClinVar dbSNP
17	g.80110725A>G	CA401366755	GAA	c.1438-2A>G (n.1438-2A>G)	ClinVar dbSNP gnomAD v4
17	g.80110725A>T	CA401366756	GAA	c.1438-2A>T (n.1438-2A>T)
17	g.80110726G>A	CA401366757	GAA	c.1438-1G>A (n.1438-1G>A)	ClinVar
17	g.80110726G>C	CA274472	GAA	c.1438-1G>C (n.1438-1G>C)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110726G=	CA2277814056	GAA	c.1438-1G= (n.1438-1G=)
17	g.80110726G>T	CA8815346	GAA	c.1438-1G>T (n.1438-1G>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110727G>A	CA8815347	GAA	c.1438G>A (p.Val480Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110727G>C	CA401366761	GAA	c.1438G>C (p.Val480Leu)	dbSNP gnomAD v4
17	g.80110727G=	CA2277814057	GAA	c.1438G= (p.Val480=)
17	g.80110727G>T	CA401366763	GAA	c.1438G>T (p.Val480Leu)
17	g.80110728T>A	CA401366766	GAA	c.1439T>A (p.Val480Glu)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80110728T>C	CA401366767	GAA	c.1439T>C (p.Val480Ala)	ClinVar dbSNP gnomAD v4
17	g.80110728T>G	CA401366768	GAA	c.1439T>G (p.Val480Gly)
17	g.80110728T=	CA2277814058	GAA	c.1439T= (p.Val480=)
17	g.80110729A=	CA2277814059	GAA	c.1440A= (p.Val480=)
17	g.80110729A>C	CA502178523	GAA	c.1440A>C (p.Val480=)
17	g.80110729A>G	CA502178521	GAA	c.1440A>G (p.Val480=)	ClinVar dbSNP gnomAD v4
17	g.80110729A>T	CA502178522	GAA	c.1440A>T (p.Val480=)
17	g.80110729_80110730delinsAT	CA2277814060	GAA	c.1440_1441delinsAT (p.Val480=)
17	g.80110730del	CA627699575	GAA	c.1441del (p.Trp481GlyfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110730T>A	CA401366772	GAA	c.1441T>A (p.Trp481Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110730T>C	CA274247	GAA	c.1441T>C (p.Trp481Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110730T>G	CA401366771	GAA	c.1441T>G (p.Trp481Gly)
17	g.80110730T=	CA2277814061	GAA	c.1441T= (p.Trp481=)
17	g.80110731G>A	CA401366775	GAA	c.1442G>A (p.Trp481Ter)
17	g.80110731G>C	CA401366777	GAA	c.1442G>C (p.Trp481Ser)
17	g.80110731G>T	CA401366778	GAA	c.1442G>T (p.Trp481Leu)
17	g.80110733_80110737del	CA2695227092	GAA	c.1444_1448del (p.Pro482ValfsTer22)
17	g.80110732G>A	CA401366781	GAA	c.1443G>A (p.Trp481Ter)	ClinVar dbSNP
17	g.80110732G>C	CA401366783	GAA	c.1443G>C (p.Trp481Cys)
17	g.80110732G>T	CA401366784	GAA	c.1443G>T (p.Trp481Cys)
17	g.80110733C>A	CA401366787	GAA	c.1444C>A (p.Pro482Thr)
17	g.80110733C>G	CA401366788	GAA	c.1444C>G (p.Pro482Ala)
17	g.80110733C>T	CA401366790	GAA	c.1444C>T (p.Pro482Ser)
17	g.80110734C>A	CA401366792	GAA	c.1445C>A (p.Pro482His)
17	g.80110734C=	CA2277814062	GAA	c.1445C= (p.Pro482=)
17	g.80110734C>G	CA401366794	GAA	c.1445C>G (p.Pro482Arg)	ClinVar dbSNP
17	g.80110734C>T	CA401366796	GAA	c.1445C>T (p.Pro482Leu)	ClinVar dbSNP gnomAD v4
17	g.80110735C>A	CA502178524	GAA	c.1446C>A (p.Pro482=)
17	g.80110735C=	CA2277814063	GAA	c.1446C= (p.Pro482=)
17	g.80110735C>G	CA502178525	GAA	c.1446C>G (p.Pro482=)
17	g.80110735C>T	CA8815348	GAA	c.1446C>T (p.Pro482=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110736G>A	CA8815349	GAA	c.1447G>A (p.Gly483Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110736G>C	CA401366800	GAA	c.1447G>C (p.Gly483Arg)
17	g.80110736G=	CA2277814064	GAA	c.1447G= (p.Gly483=)
17	g.80110736G>T	CA401366801	GAA	c.1447G>T (p.Gly483Trp)	COSMIC
17	g.80110737G>A	CA401366804	GAA	c.1448G>A (p.Gly483Glu)
17	g.80110737G>C	CA401366805	GAA	c.1448G>C (p.Gly483Ala)
17	g.80110737G=	CA2277814065	GAA	c.1448G= (p.Gly483=)
17	g.80110737G>T	CA401366807	GAA	c.1448G>T (p.Gly483Val)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80110738G>A	CA502178526	GAA	c.1449G>A (p.Gly483=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80110738G>C	CA502178527	GAA	c.1449G>C (p.Gly483=)
17	g.80110738G=	CA2277814066	GAA	c.1449G= (p.Gly483=)
17	g.80110738G>T	CA502178528	GAA	c.1449G>T (p.Gly483=)
17	g.80110739T>A	CA401366813	GAA	c.1450T>A (p.Ser484Thr)
17	g.80110739T>C	CA401366811	GAA	c.1450T>C (p.Ser484Pro)	gnomAD v4
17	g.80110739T>G	CA401366810	GAA	c.1450T>G (p.Ser484Ala)	dbSNP
17	g.80110739T=	CA2277814067	GAA	c.1450T= (p.Ser484=)
17	g.80110740C>A	CA401366815	GAA	c.1451C>A (p.Ser484Tyr)
17	g.80110740C=	CA2277814068	GAA	c.1451C= (p.Ser484=)
17	g.80110740C>G	CA401366817	GAA	c.1451C>G (p.Ser484Cys)	dbSNP gnomAD v2
17	g.80110740C>T	CA401366818	GAA	c.1451C>T (p.Ser484Phe)
17	g.80110741dup	CA775514379	GAA	c.1452dup (p.Thr485HisfsTer21)	dbSNP
17	g.80110741C>A	CA502178529	GAA	c.1452C>A (p.Ser484=)
17	g.80110741C>G	CA502178530	GAA	c.1452C>G (p.Ser484=)
17	g.80110741C>T	CA502178531	GAA	c.1452C>T (p.Ser484=)
17	g.80110742A=	CA2277814069	GAA	c.1453A= (p.Thr485=)
17	g.80110742A>C	CA401366821	GAA	c.1453A>C (p.Thr485Pro)	ClinVar dbSNP
17	g.80110742A>G	CA401366822	GAA	c.1453A>G (p.Thr485Ala)	dbSNP gnomAD v2 gnomAD v4
17	g.80110742A>T	CA401366824	GAA	c.1453A>T (p.Thr485Ser)
17	g.80110745_80110757del	CA645369127	GAA	c.1456_1468del (p.Ala486SerfsTer30)
17	g.80110743C>A	CA401366826	GAA	c.1454C>A (p.Thr485Asn)
17	g.80110743C>G	CA401366830	GAA	c.1454C>G (p.Thr485Ser)	gnomAD v4
17	g.80110743C>T	CA401366828	GAA	c.1454C>T (p.Thr485Ile)	ClinVar dbSNP
17	g.80110743_80110744insGGCC	CA2640288297	GAA	c.1454_1455insGGCC (p.Phe487CysfsTer20)	gnomAD v4
17	g.80110744T>A	CA502178532	GAA	c.1455T>A (p.Thr485=)
17	g.80110744T>C	CA502178533	GAA	c.1455T>C (p.Thr485=)	ClinVar dbSNP gnomAD v4
17	g.80110744T>G	CA8815350	GAA	c.1455T>G (p.Thr485=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110744T=	CA2277814070	GAA	c.1455T= (p.Thr485=)
17	g.80110744_80110745insTCCCCGACTTCACC	CA2640288313	GAA	c.1455_1456insTCCCCGACTTCACC (p.Ala486SerfsTer?)	gnomAD v4
17	g.80110745G>A	CA401366833	GAA	c.1456G>A (p.Ala486Thr)	ClinVar dbSNP
17	g.80110745G>C	CA401366835	GAA	c.1456G>C (p.Ala486Pro)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80110745G=	CA2277814071	GAA	c.1456G= (p.Ala486=)
17	g.80110745G>T	CA401366836	GAA	c.1456G>T (p.Ala486Ser)	ClinVar dbSNP gnomAD v2
17	g.80110745_80110756del	CA645369126	GAA	c.1456_1467del (p.Ala486_Asp489del)
17	g.80110746C>A	CA401366839	GAA	c.1457C>A (p.Ala486Asp)
17	g.80110746C=	CA2277814072	GAA	c.1457C= (p.Ala486=)
17	g.80110746C>G	CA401366841	GAA	c.1457C>G (p.Ala486Gly)
17	g.80110746C>T	CA401366842	GAA	c.1457C>T (p.Ala486Val)	ClinVar dbSNP gnomAD v4
17	g.80110747del	CA2640288322	GAA	c.1458del (p.Phe487SerfsTer?)	gnomAD v4
17	g.80110747C>A	CA502178534	GAA	c.1458C>A (p.Ala486=)
17	g.80110747C=	CA2277814073	GAA	c.1458C= (p.Ala486=)
17	g.80110747C>G	CA502178535	GAA	c.1458C>G (p.Ala486=)
17	g.80110747C>T	CA294894863	GAA	c.1458C>T (p.Ala486=)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
17	g.80110748T>A	CA401366844	GAA	c.1459T>A (p.Phe487Ile)
17	g.80110748T>C	CA401366846	GAA	c.1459T>C (p.Phe487Leu)
17	g.80110748T>G	CA401366848	GAA	c.1459T>G (p.Phe487Val)	gnomAD v4
17	g.80110749T>A	CA401366853	GAA	c.1460T>A (p.Phe487Tyr)
17	g.80110749T>C	CA401366851	GAA	c.1460T>C (p.Phe487Ser)	gnomAD v4
17	g.80110749T>G	CA401366850	GAA	c.1460T>G (p.Phe487Cys)
17	g.80110749T=	CA2277814074	GAA	c.1460T= (p.Phe487=)
17	g.80110750C>A	CA401366854	GAA	c.1461C>A (p.Phe487Leu)
17	g.80110750C>G	CA401366857	GAA	c.1461C>G (p.Phe487Leu)	ClinVar
17	g.80110750C>T	CA502178536	GAA	c.1461C>T (p.Phe487=)	ClinVar
17	g.80110753dup	CA916082444	GAA	c.1464dup (p.Asp489ArgfsTer17)	ClinVar dbSNP gnomAD v4
17	g.80110751C>A	CA401366858	GAA	c.1462C>A (p.Pro488Thr)
17	g.80110751C=	CA2277814075	GAA	c.1462C= (p.Pro488=)
17	g.80110751C>G	CA8815351	GAA	c.1462C>G (p.Pro488Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80110751C>T	CA401366859	GAA	c.1462C>T (p.Pro488Ser)	gnomAD v4
17	g.80110752C>A	CA401366863	GAA	c.1463C>A (p.Pro488His)
17	g.80110752C>G	CA401366866	GAA	c.1463C>G (p.Pro488Arg)
17	g.80110752C>T	CA401366865	GAA	c.1463C>T (p.Pro488Leu)	ClinVar dbSNP gnomAD v4 COSMIC
17	g.80110753C>A	CA502178537	GAA	c.1464C>A (p.Pro488=)
17	g.80110753C=	CA2277814076	GAA	c.1464C= (p.Pro488=)
17	g.80110753C>G	CA502178538	GAA	c.1464C>G (p.Pro488=)
17	g.80110753C>T	CA8815352	GAA	c.1464C>T (p.Pro488=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110754G>A	CA220390	GAA	c.1465G>A (p.Asp489Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110754G>C	CA401366870	GAA	c.1465G>C (p.Asp489His)
17	g.80110754G=	CA2277814077	GAA	c.1465G= (p.Asp489=)
17	g.80110754G>T	CA401366871	GAA	c.1465G>T (p.Asp489Tyr)
17	g.80110755A>C	CA401366874	GAA	c.1466A>C (p.Asp489Ala)
17	g.80110755A>G	CA401366876	GAA	c.1466A>G (p.Asp489Gly)	ClinVar
17	g.80110755A>T	CA401366877	GAA	c.1466A>T (p.Asp489Val)
17	g.80110756C>A	CA401366879	GAA	c.1467C>A (p.Asp489Glu)
17	g.80110756C>G	CA401366881	GAA	c.1467C>G (p.Asp489Glu)
17	g.80110756C>T	CA502178539	GAA	c.1467C>T (p.Asp489=)
17	g.80110757T>A	CA401366887	GAA	c.1468T>A (p.Phe490Ile)
17	g.80110757T>C	CA401366885	GAA	c.1468T>C (p.Phe490Leu)	ClinVar dbSNP gnomAD v4
17	g.80110757T>G	CA401366883	GAA	c.1468T>G (p.Phe490Val)
17	g.80110758T>A	CA401366889	GAA	c.1469T>A (p.Phe490Tyr)
17	g.80110758T>C	CA401366891	GAA	c.1469T>C (p.Phe490Ser)
17	g.80110758T>G	CA401366893	GAA	c.1469T>G (p.Phe490Cys)	ClinVar
17	g.80110759C>A	CA401366895	GAA	c.1470C>A (p.Phe490Leu)
17	g.80110759C>G	CA401366897	GAA	c.1470C>G (p.Phe490Leu)
17	g.80110759C>T	CA502178540	GAA	c.1470C>T (p.Phe490=)
17	g.80110761_80110763del	CA2580095748	GAA	c.1472_1474del (p.Thr491del)	ClinVar
17	g.80110760A>C	CA401366899	GAA	c.1471A>C (p.Thr491Pro)
17	g.80110760A>G	CA401366900	GAA	c.1471A>G (p.Thr491Ala)
17	g.80110760A>T	CA401366902	GAA	c.1471A>T (p.Thr491Ser)
17	g.80110761C>A	CA401366904	GAA	c.1472C>A (p.Thr491Asn)
17	g.80110761C>G	CA401366905	GAA	c.1472C>G (p.Thr491Ser)
17	g.80110761C>T	CA401366906	GAA	c.1472C>T (p.Thr491Ile)
17	g.80110762C>A	CA502178541	GAA	c.1473C>A (p.Thr491=)
17	g.80110762C>G	CA502178543	GAA	c.1473C>G (p.Thr491=)
17	g.80110762C>T	CA502178542	GAA	c.1473C>T (p.Thr491=)
17	g.80110763A>C	CA401366910	GAA	c.1474A>C (p.Asn492His)
17	g.80110763A>G	CA401366912	GAA	c.1474A>G (p.Asn492Asp)	gnomAD v4
17	g.80110763A>T	CA401366909	GAA	c.1474A>T (p.Asn492Tyr)
17	g.80110764A>C	CA401366915	GAA	c.1475A>C (p.Asn492Thr)
17	g.80110764A>G	CA401366916	GAA	c.1475A>G (p.Asn492Ser)	gnomAD v4
17	g.80110764A>T	CA401366917	GAA	c.1475A>T (p.Asn492Ile)
17	g.80110765_80110771dup	CA2695227093	GAA	c.1476_1482dup (p.Ala495ProfsTer13)
17	g.80110765C>A	CA401366919	GAA	c.1476C>A (p.Asn492Lys)
17	g.80110765C>G	CA401366921	GAA	c.1476C>G (p.Asn492Lys)
17	g.80110765C>T	CA502178544	GAA	c.1476C>T (p.Asn492=)
17	g.80110766C>A	CA401366923	GAA	c.1477C>A (p.Pro493Thr)
17	g.80110766C=	CA2277814078	GAA	c.1477C= (p.Pro493=)
17	g.80110766C>G	CA401366924	GAA	c.1477C>G (p.Pro493Ala)
17	g.80110766C>T	CA401366926	GAA	c.1477C>T (p.Pro493Ser)	ClinVar dbSNP
17	g.80110767C>A	CA401366928	GAA	c.1478C>A (p.Pro493His)	dbSNP
17	g.80110767C=	CA2277814079	GAA	c.1478C= (p.Pro493=)
17	g.80110767C>G	CA401366930	GAA	c.1478C>G (p.Pro493Arg)	gnomAD v4
17	g.80110767C>T	CA16608675	GAA	c.1478C>T (p.Pro493Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110768C>A	CA502178545	GAA	c.1479C>A (p.Pro493=)
17	g.80110768C>G	CA502178547	GAA	c.1479C>G (p.Pro493=)
17	g.80110768C>T	CA502178546	GAA	c.1479C>T (p.Pro493=)	gnomAD v4
17	g.80110769A=	CA2277814080	GAA	c.1480A= (p.Thr494=)
17	g.80110769A>C	CA401366937	GAA	c.1480A>C (p.Thr494Pro)
17	g.80110769A>G	CA401366935	GAA	c.1480A>G (p.Thr494Ala)
17	g.80110769A>T	CA401366933	GAA	c.1480A>T (p.Thr494Ser)	dbSNP
17	g.80110770C>A	CA401366938	GAA	c.1481C>A (p.Thr494Lys)	gnomAD v4
17	g.80110770C>G	CA401366941	GAA	c.1481C>G (p.Thr494Arg)
17	g.80110770C>T	CA401366943	GAA	c.1481C>T (p.Thr494Ile)	gnomAD v4
17	g.80110771A=	CA2277814081	GAA	c.1482A= (p.Thr494=)
17	g.80110771A>C	CA502178548	GAA	c.1482A>C (p.Thr494=)
17	g.80110771A>G	CA8815353	GAA	c.1482A>G (p.Thr494=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110771A>T	CA502178549	GAA	c.1482A>T (p.Thr494=)
17	g.80110772G>A	CA401366946	GAA	c.1483G>A (p.Ala495Thr)	dbSNP COSMIC
17	g.80110772G>C	CA401366947	GAA	c.1483G>C (p.Ala495Pro)
17	g.80110772G>T	CA401366950	GAA	c.1483G>T (p.Ala495Ser)
17	g.80110773C>A	CA401366952	GAA	c.1484C>A (p.Ala495Asp)
17	g.80110773C=	CA2277814082	GAA	c.1484C= (p.Ala495=)
17	g.80110773C>G	CA401366954	GAA	c.1484C>G (p.Ala495Gly)
17	g.80110773C>T	CA401366956	GAA	c.1484C>T (p.Ala495Val)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80110774C>A	CA502178550	GAA	c.1485C>A (p.Ala495=)
17	g.80110774C=	CA2277814083	GAA	c.1485C= (p.Ala495=)
17	g.80110774C>G	CA502178551	GAA	c.1485C>G (p.Ala495=)
17	g.80110774C>T	CA8815354	GAA	c.1485C>T (p.Ala495=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80110775C>A	CA401366959	GAA	c.1486C>A (p.Leu496Met)
17	g.80110775C=	CA2277814084	GAA	c.1486C= (p.Leu496=)
17	g.80110775C>G	CA401366961	GAA	c.1486C>G (p.Leu496Val)
17	g.80110775C>T	CA502178552	GAA	c.1486C>T (p.Leu496=)	ClinVar dbSNP
17	g.80110776T>A	CA401366965	GAA	c.1487T>A (p.Leu496Gln)
17	g.80110776T>C	CA401366967	GAA	c.1487T>C (p.Leu496Pro)
17	g.80110776T>G	CA401366963	GAA	c.1487T>G (p.Leu496Arg)
17	g.80110777G>A	CA8815355	GAA	c.1488G>A (p.Leu496=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110777G>C	CA502178553	GAA	c.1488G>C (p.Leu496=)
17	g.80110777G=	CA2277814085	GAA	c.1488G= (p.Leu496=)
17	g.80110777G>T	CA502178554	GAA	c.1488G>T (p.Leu496=)
17	g.80110778G>A	CA401366970	GAA	c.1489G>A (p.Ala497Thr)
17	g.80110778G>C	CA401366972	GAA	c.1489G>C (p.Ala497Pro)	gnomAD v4
17	g.80110778G>T	CA401366973	GAA	c.1489G>T (p.Ala497Ser)
17	g.80110779C>A	CA401366975	GAA	c.1490C>A (p.Ala497Asp)
17	g.80110779C>G	CA401366977	GAA	c.1490C>G (p.Ala497Gly)	COSMIC
17	g.80110779C>T	CA401366979	GAA	c.1490C>T (p.Ala497Val)
17	g.80110780C>A	CA502178555	GAA	c.1491C>A (p.Ala497=)
17	g.80110780C=	CA2277814086	GAA	c.1491C= (p.Ala497=)
17	g.80110780C>G	CA502178556	GAA	c.1491C>G (p.Ala497=)
17	g.80110780C>T	CA8815356	GAA	c.1491C>T (p.Ala497=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110781T>A	CA401366981	GAA	c.1492T>A (p.Trp498Arg)
17	g.80110781T>C	CA401366983	GAA	c.1492T>C (p.Trp498Arg)	gnomAD v4
17	g.80110781T>G	CA401366985	GAA	c.1492T>G (p.Trp498Gly)
17	g.80110782G>A	CA401366987	GAA	c.1493G>A (p.Trp498Ter)
17	g.80110782G>C	CA401366989	GAA	c.1493G>C (p.Trp498Ser)	gnomAD v4
17	g.80110782G>T	CA401366991	GAA	c.1493G>T (p.Trp498Leu)
17	g.80110783del	CA2695200355	GAA	c.1494del (p.Trp498CysfsTer22)	ClinVar
17	g.80110783G>A	CA401366993	GAA	c.1494G>A (p.Trp498Ter)	ClinVar dbSNP
17	g.80110783G>C	CA401366996	GAA	c.1494G>C (p.Trp498Cys)	dbSNP gnomAD v3 gnomAD v4
17	g.80110783G=	CA2277814087	GAA	c.1494G= (p.Trp498=)
17	g.80110783G>T	CA401366994	GAA	c.1494G>T (p.Trp498Cys)

Number of alleles fetched