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.80110917C>G	CA2640288763	GAA	c.1552-24C>G (n.1552-24C>G)	gnomAD v4
17	g.80110918T>A	CA2640288764	GAA	c.1552-23T>A (n.1552-23T>A)	gnomAD v4
17	g.80110921del	CA2576414110	GAA	c.1552-20del (n.1552-20del)
17	g.80110921C=	CA2277814163	GAA	c.1552-20C= (n.1552-20C=)
17	g.80110921C>T	CA8815380	GAA	c.1552-20C>T (n.1552-20C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80110922A=	CA2277814165	GAA	c.1552-19A= (n.1552-19A=)
17	g.80110922A>T	CA986707348	GAA	c.1552-19A>T (n.1552-19A>T)	dbSNP gnomAD v3 gnomAD v4
17	g.80110922_80110936delinsAGCAGCGCTTCTCTT	CA2277814164	GAA	c.1552-19_1552-5delinsAGCAGCGCTTCTCTT (n.1552-19_1552-5delinsAGCAGCGCTTCTCTT)
17	g.80110923G>C	CA2277814167	GAA	c.1552-18G>C (n.1552-18G>C)	dbSNP gnomAD v4
17	g.80110923G=	CA2277814166	GAA	c.1552-18G= (n.1552-18G=)
17	g.80110927_80110940del	CA891844474	GAA	c.1552-14_1552-1del (n.1552-14_1552-1del)	ClinVar dbSNP
17	g.80110924C>T	CA2640288773	GAA	c.1552-17C>T (n.1552-17C>T)	gnomAD v4
17	g.80110925A>G	CA2740093942	GAA	c.1552-16A>G (n.1552-16A>G)	ClinVar
17	g.80110926G>A	CA2640288776	GAA	c.1552-15G>A (n.1552-15G>A)	gnomAD v4
17	g.80110926G>C	CA2734103691	GAA	c.1552-15G>C (n.1552-15G>C)	dbSNP
17	g.80110926G>T	CA2640288775	GAA	c.1552-15G>T (n.1552-15G>T)	gnomAD v4
17	g.80110927C=	CA2277814168	GAA	c.1552-14C= (n.1552-14C=)
17	g.80110927C>G	CA2504980463	GAA	c.1552-14C>G (n.1552-14C>G)	dbSNP gnomAD v4
17	g.80110927C>T	CA8815381	GAA	c.1552-14C>T (n.1552-14C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110928G>A	CA8815382	GAA	c.1552-13G>A (n.1552-13G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110928G=	CA2277814169	GAA	c.1552-13G= (n.1552-13G=)
17	g.80110929C>A	CA2573154974	GAA	c.1552-12C>A (n.1552-12C>A)	ClinVar dbSNP
17	g.80110929_80110930delinsCT	CA2277814170	GAA	c.1552-12_1552-11delinsCT (n.1552-12_1552-11delinsCT)
17	g.80110930T>C	CA2277814172	GAA	c.1552-11T>C (n.1552-11T>C)	dbSNP gnomAD v4
17	g.80110930T=	CA2277814171	GAA	c.1552-11T= (n.1552-11T=)
17	g.80110931del	CA294894974	GAA	c.1552-10del (n.1552-10del)	ClinVar dbSNP gnomAD v4
17	g.80110933T>C	CA2277814173	GAA	c.1552-8T>C (n.1552-8T>C)	ClinVar dbSNP
17	g.80110933T=	CA2277814174	GAA	c.1552-8T= (n.1552-8T=)
17	g.80110934C=	CA2277814175	GAA	c.1552-7C= (n.1552-7C=)
17	g.80110934C>G	CA2740093943	GAA	c.1552-7C>G (n.1552-7C>G)	ClinVar
17	g.80110934C>T	CA2277814176	GAA	c.1552-7C>T (n.1552-7C>T)	ClinVar dbSNP
17	g.80110936T>G	CA2640288787	GAA	c.1552-5T>G (n.1552-5T>G)	gnomAD v4
17	g.80110937G>T	CA645599507	GAA	c.1552-4G>T (n.1552-4G>T)	COSMIC
17	g.80110938C=	CA2277814177	GAA	c.1552-3C= (n.1552-3C=)
17	g.80110938C>G	CA8815383	GAA	c.1552-3C>G (n.1552-3C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110938C>T	CA2573154975	GAA	c.1552-3C>T (n.1552-3C>T)	ClinVar dbSNP gnomAD v4
17	g.80110939A=	CA2277814178	GAA	c.1552-2A= (n.1552-2A=)
17	g.80110939A>C	CA401367172	GAA	c.1552-2A>C (n.1552-2A>C)	ClinVar
17	g.80110939A>G	CA401367171	GAA	c.1552-2A>G (n.1552-2A>G)	ClinVar dbSNP
17	g.80110939A>T	CA401367173	GAA	c.1552-2A>T (n.1552-2A>T)
17	g.80110940G>A	CA401367174	GAA	c.1552-1G>A (n.1552-1G>A)
17	g.80110940G>C	CA401367175	GAA	c.1552-1G>C (n.1552-1G>C)	gnomAD v4
17	g.80110940G>T	CA401367176	GAA	c.1552-1G>T (n.1552-1G>T)
17	g.80110941G>A	CA401367177	GAA	c.1552G>A (p.Asp518Asn)
17	g.80110941G>C	CA401367178	GAA	c.1552G>C (p.Asp518His)
17	g.80110941G=	CA2277814179	GAA	c.1552G= (p.Asp518=)
17	g.80110941G>T	CA401367179	GAA	c.1552G>T (p.Asp518Tyr)
17	g.80110942A>C	CA401367182	GAA	c.1553A>C (p.Asp518Ala)
17	g.80110942A>G	CA401367181	GAA	c.1553A>G (p.Asp518Gly)
17	g.80110942A>T	CA401367180	GAA	c.1553A>T (p.Asp518Val)
17	g.80110942_80110944dup	CA913186005	GAA	c.1553_1555dup (p.Asp518_Met519insAsn)	ClinVar dbSNP
17	g.80110943C>A	CA401367183	GAA	c.1554C>A (p.Asp518Glu)
17	g.80110943C=	CA2277814180	GAA	c.1554C= (p.Asp518=)
17	g.80110943C>G	CA401367184	GAA	c.1554C>G (p.Asp518Glu)
17	g.80110943C>T	CA8815384	GAA	c.1554C>T (p.Asp518=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80110944A=	CA2277814181	GAA	c.1555A= (p.Met519=)
17	g.80110944A>C	CA401367185	GAA	c.1555A>C (p.Met519Leu)
17	g.80110944A>G	CA401367186	GAA	c.1555A>G (p.Met519Val)	ClinVar dbSNP
17	g.80110944A>T	CA401367187	GAA	c.1555A>T (p.Met519Leu)
17	g.80110945T>A	CA401367188	GAA	c.1556T>A (p.Met519Lys)
17	g.80110945T>C	CA274402	GAA	c.1556T>C (p.Met519Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110945T>G	CA401367189	GAA	c.1556T>G (p.Met519Arg)
17	g.80110945T=	CA2277814182	GAA	c.1556T= (p.Met519=)
17	g.80110946G>A	CA401367190	GAA	c.1557G>A (p.Met519Ile)	ClinVar dbSNP
17	g.80110946G>C	CA401367191	GAA	c.1557G>C (p.Met519Ile)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110946G=	CA2277814183	GAA	c.1557G= (p.Met519=)
17	g.80110946G>T	CA401367192	GAA	c.1557G>T (p.Met519Ile)
17	g.80110946_80110950dup	CA2499225013	GAA	c.1557_1561dup (p.Glu521GlyfsTer?)	ClinVar dbSNP
17	g.80110947A>C	CA401367193	GAA	c.1558A>C (p.Asn520His)
17	g.80110947A>G	CA401367194	GAA	c.1558A>G (p.Asn520Asp)
17	g.80110947A>T	CA401367195	GAA	c.1558A>T (p.Asn520Tyr)
17	g.80110948del	CA2573054603	GAA	c.1559del (p.Asn520ThrfsTer?)	ClinVar dbSNP
17	g.80110948A=	CA2277814184	GAA	c.1559A= (p.Asn520=)
17	g.80110948A>C	CA401367196	GAA	c.1559A>C (p.Asn520Thr)
17	g.80110948A>G	CA401367197	GAA	c.1559A>G (p.Asn520Ser)	ClinVar dbSNP
17	g.80110948A>T	CA401367198	GAA	c.1559A>T (p.Asn520Ile)	ClinVar
17	g.80110949del	CA2739268477	GAA	c.1560del (p.Asn520LysfsTer?)	ClinVar
17	g.80110949C>A	CA401367199	GAA	c.1560C>A (p.Asn520Lys)	gnomAD v4
17	g.80110949C=	CA2277814185	GAA	c.1560C= (p.Asn520=)
17	g.80110949C>G	CA401367200	GAA	c.1560C>G (p.Asn520Lys)
17	g.80110949C>T	CA8815385	GAA	c.1560C>T (p.Asn520=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110950del	CA2697555224	GAA	c.1561del (p.Glu521SerfsTer?)	ClinVar
17	g.80110950G>A	CA116593	GAA	c.1561G>A (p.Glu521Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80110950G>C	CA401367201	GAA	c.1561G>C (p.Glu521Gln)	ClinVar
17	g.80110950G=	CA2277814186	GAA	c.1561G= (p.Glu521=)
17	g.80110950G>T	CA401367202	GAA	c.1561G>T (p.Glu521Ter)
17	g.80110951A=	CA2277814187	GAA	c.1562A= (p.Glu521=)
17	g.80110951A>C	CA401367203	GAA	c.1562A>C (p.Glu521Ala)
17	g.80110951A>G	CA401367204	GAA	c.1562A>G (p.Glu521Gly)
17	g.80110951A>T	CA401367205	GAA	c.1562A>T (p.Glu521Val)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80110952G>A	CA502178688	GAA	c.1563G>A (p.Glu521=)
17	g.80110952G>C	CA401367206	GAA	c.1563G>C (p.Glu521Asp)
17	g.80110952G>T	CA401367207	GAA	c.1563G>T (p.Glu521Asp)
17	g.80110952_80110953insAAGCGCTGCTGGTAGGTGACTCTGCCCAGAGTGAGGAGGGTGTGGTAGT	CA986707383	GAA	c.1563_1564insAAGCGCTGCTGGTAGGTGACTCTGCCCAGAGTGAGGAGGGTGTGGTAGT (p.Pro522LysfsTer5)
17	g.80110953C>A	CA401367208	GAA	c.1564C>A (p.Pro522Thr)	ClinVar dbSNP gnomAD v4
17	g.80110953C=	CA2277814188	GAA	c.1564C= (p.Pro522=)
17	g.80110953C>G	CA16041893	GAA	c.1564C>G (p.Pro522Ala)	ClinVar dbSNP gnomAD v4
17	g.80110953C>T	CA294895008	GAA	c.1564C>T (p.Pro522Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110954C>A	CA401367209	GAA	c.1565C>A (p.Pro522His)
17	g.80110954C>G	CA401367211	GAA	c.1565C>G (p.Pro522Arg)
17	g.80110954C>T	CA401367210	GAA	c.1565C>T (p.Pro522Leu)	ClinVar dbSNP
17	g.80110954_80110955delinsCT	CA2277814189	GAA	c.1565_1566delinsCT (p.Pro522=)
17	g.80110955T>A	CA502178691	GAA	c.1566T>A (p.Pro522=)
17	g.80110955T>C	CA502178690	GAA	c.1566T>C (p.Pro522=)
17	g.80110955T>G	CA502178689	GAA	c.1566T>G (p.Pro522=)
17	g.80110956del	CA16041894	GAA	c.1567del (p.Ser523ProfsTer?)	ClinVar dbSNP
17	g.80110956T>A	CA401367212	GAA	c.1567T>A (p.Ser523Thr)
17	g.80110956T>C	CA401367213	GAA	c.1567T>C (p.Ser523Pro)	gnomAD v4
17	g.80110956T>G	CA401367214	GAA	c.1567T>G (p.Ser523Ala)
17	g.80110957C>A	CA401367215	GAA	c.1568C>A (p.Ser523Tyr)
17	g.80110957C=	CA2277814190	GAA	c.1568C= (p.Ser523=)
17	g.80110957C>G	CA401367217	GAA	c.1568C>G (p.Ser523Cys)	ClinVar dbSNP
17	g.80110957C>T	CA401367216	GAA	c.1568C>T (p.Ser523Phe)	gnomAD v4
17	g.80110958C>A	CA502178692	GAA	c.1569C>A (p.Ser523=)
17	g.80110958C>G	CA502178693	GAA	c.1569C>G (p.Ser523=)
17	g.80110958C>T	CA502178694	GAA	c.1569C>T (p.Ser523=)
17	g.80110959A>C	CA401367218	GAA	c.1570A>C (p.Asn524His)
17	g.80110959A>G	CA401367219	GAA	c.1570A>G (p.Asn524Asp)	gnomAD v4
17	g.80110959A>T	CA401367220	GAA	c.1570A>T (p.Asn524Tyr)
17	g.80110960A=	CA2277814191	GAA	c.1571A= (p.Asn524=)
17	g.80110960A>C	CA401367221	GAA	c.1571A>C (p.Asn524Thr)	ClinVar
17	g.80110960A>G	CA401367222	GAA	c.1571A>G (p.Asn524Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.80110960A>T	CA401367223	GAA	c.1571A>T (p.Asn524Ile)
17	g.80110961C>A	CA401367224	GAA	c.1572C>A (p.Asn524Lys)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80110961C=	CA2277814192	GAA	c.1572C= (p.Asn524=)
17	g.80110961C>G	CA401367225	GAA	c.1572C>G (p.Asn524Lys)	ClinVar dbSNP
17	g.80110961C>T	CA502178695	GAA	c.1572C>T (p.Asn524=)	ClinVar dbSNP
17	g.80110962T>A	CA401367226	GAA	c.1573T>A (p.Phe525Ile)	dbSNP
17	g.80110962T>C	CA401367227	GAA	c.1573T>C (p.Phe525Leu)
17	g.80110962T>G	CA401367228	GAA	c.1573T>G (p.Phe525Val)
17	g.80110962T=	CA2277814193	GAA	c.1573T= (p.Phe525=)
17	g.80110963T>A	CA401367231	GAA	c.1574T>A (p.Phe525Tyr)
17	g.80110963T>C	CA401367229	GAA	c.1574T>C (p.Phe525Ser)
17	g.80110963T>G	CA401367230	GAA	c.1574T>G (p.Phe525Cys)
17	g.80110964C>A	CA401367232	GAA	c.1575C>A (p.Phe525Leu)
17	g.80110964C>G	CA401367233	GAA	c.1575C>G (p.Phe525Leu)
17	g.80110964C>T	CA502178696	GAA	c.1575C>T (p.Phe525=)	COSMIC
17	g.80110964dup	CA2573154976	GAA	c.1575dup (p.Ile526HisfsTer5)	ClinVar dbSNP
17	g.80110964_80110965del	CA2580095759	GAA	c.1575_1576del (p.Ile526GlnfsTer4)	ClinVar
17	g.80110965A=	CA2277814194	GAA	c.1576A= (p.Ile526=)
17	g.80110965A>C	CA401367234	GAA	c.1576A>C (p.Ile526Leu)
17	g.80110965A>G	CA401367235	GAA	c.1576A>G (p.Ile526Val)	ClinVar dbSNP
17	g.80110965A>T	CA401367236	GAA	c.1576A>T (p.Ile526Phe)
17	g.80110966T>A	CA401367239	GAA	c.1577T>A (p.Ile526Asn)
17	g.80110966T>C	CA401367238	GAA	c.1577T>C (p.Ile526Thr)
17	g.80110966T>G	CA401367237	GAA	c.1577T>G (p.Ile526Ser)
17	g.80110967C>A	CA502178697	GAA	c.1578C>A (p.Ile526=)
17	g.80110967C>G	CA401367240	GAA	c.1578C>G (p.Ile526Met)
17	g.80110967C>T	CA502178698	GAA	c.1578C>T (p.Ile526=)
17	g.80110967_80110968delinsCA	CA2277814196	GAA	c.1578_1579delinsCA (p.Ile526=)
17	g.80110967_80110969delinsCAG	CA2277814195	GAA	c.1578_1580delinsCAG (p.Ile526=)
17	g.80110968del	CA1139665924	GAA	c.1579del (p.Arg527GlyfsTer?)	ClinVar dbSNP
17	g.80110968A>C	CA502178699	GAA	c.1579A>C (p.Arg527=)
17	g.80110968A>G	CA401367241	GAA	c.1579A>G (p.Arg527Gly)	ClinVar
17	g.80110968A>T	CA401367242	GAA	c.1579A>T (p.Arg527Trp)
17	g.80110968_80110969del	CA627699647	GAA	c.1579_1580del (p.Arg527GlyfsTer3)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80110969G>A	CA401367243	GAA	c.1580G>A (p.Arg527Lys)	ClinVar
17	g.80110969G>C	CA401367244	GAA	c.1580G>C (p.Arg527Thr)
17	g.80110969G>T	CA401367245	GAA	c.1580G>T (p.Arg527Met)
17	g.80110971_80110972del	CA915940877	GAA	c.1582_1583del (p.Gly528LeufsTer2)
17	g.80110970G>A	CA145757	GAA	c.1581G>A (p.Arg527=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110970G>C	CA401367246	GAA	c.1581G>C (p.Arg527Ser)
17	g.80110970G=	CA2277814197	GAA	c.1581G= (p.Arg527=)
17	g.80110970G>T	CA401367247	GAA	c.1581G>T (p.Arg527Ser)
17	g.80110971G>A	CA401367248	GAA	c.1582G>A (p.Gly528Ser)	dbSNP
17	g.80110971G>C	CA401367249	GAA	c.1582G>C (p.Gly528Arg)
17	g.80110971G=	CA2277814198	GAA	c.1582G= (p.Gly528=)
17	g.80110971G>T	CA401367250	GAA	c.1582G>T (p.Gly528Cys)
17	g.80110972G>A	CA401367251	GAA	c.1583G>A (p.Gly528Asp)	gnomAD v4
17	g.80110972G>C	CA239454	GAA	c.1583G>C (p.Gly528Ala)	ClinVar dbSNP gnomAD v4
17	g.80110972G=	CA2277814199	GAA	c.1583G= (p.Gly528=)
17	g.80110972G>T	CA401367252	GAA	c.1583G>T (p.Gly528Val)	ClinVar gnomAD v4
17	g.80110973C>A	CA502178700	GAA	c.1584C>A (p.Gly528=)	gnomAD v4
17	g.80110973C=	CA2277814200	GAA	c.1584C= (p.Gly528=)
17	g.80110973C>G	CA502178701	GAA	c.1584C>G (p.Gly528=)	dbSNP gnomAD v2 gnomAD v4
17	g.80110973C>T	CA502178702	GAA	c.1584C>T (p.Gly528=)
17	g.80110974T>A	CA401367253	GAA	c.1585T>A (p.Ser529Thr)
17	g.80110974T>C	CA401367254	GAA	c.1585T>C (p.Ser529Pro)	ClinVar dbSNP
17	g.80110974T>G	CA401367255	GAA	c.1585T>G (p.Ser529Ala)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80110974T=	CA2277814202	GAA	c.1585T= (p.Ser529=)
17	g.80110974_80110975delinsGT	CA116604	GAA	c.1585_1586delinsGT (p.Ser529Val)	ClinVar dbSNP
17	g.80110974_80110975delinsTC	CA2277814201	GAA	c.1585_1586delinsTC (p.Ser529=)
17	g.80110975C>A	CA401367256	GAA	c.1586C>A (p.Ser529Tyr)
17	g.80110975C>G	CA401367257	GAA	c.1586C>G (p.Ser529Cys)
17	g.80110975C>T	CA401367258	GAA	c.1586C>T (p.Ser529Phe)
17	g.80110978_80110987del	CA2640288896	GAA	c.1589_1598del (p.Glu530AlafsTer?)	gnomAD v4
17	g.80110976del	CA2697555227	GAA	c.1587del (p.Glu530ArgfsTer?)	ClinVar
17	g.80110976T>A	CA502178703	GAA	c.1587T>A (p.Ser529=)
17	g.80110976T>C	CA502178704	GAA	c.1587T>C (p.Ser529=)
17	g.80110976T>G	CA502178705	GAA	c.1587T>G (p.Ser529=)
17	g.80110977G>A	CA401367261	GAA	c.1588G>A (p.Glu530Lys)
17	g.80110977G>C	CA401367259	GAA	c.1588G>C (p.Glu530Gln)
17	g.80110977G>T	CA401367260	GAA	c.1588G>T (p.Glu530Ter)
17	g.80110977_80110978delinsGA	CA2277814203	GAA	c.1588_1589delinsGA (p.Glu530=)
17	g.80110978del	CA8815386	GAA	c.1589del (p.Glu530GlyfsTer?)	ClinVar dbSNP ExAC gnomAD v2
17	g.80110978A>C	CA401367262	GAA	c.1589A>C (p.Glu530Ala)	gnomAD v4
17	g.80110978A>G	CA401367263	GAA	c.1589A>G (p.Glu530Gly)
17	g.80110978A>T	CA401367264	GAA	c.1589A>T (p.Glu530Val)
17	g.80110979G>A	CA502178706	GAA	c.1590G>A (p.Glu530=)
17	g.80110979G>C	CA401367265	GAA	c.1590G>C (p.Glu530Asp)
17	g.80110979G>T	CA401367266	GAA	c.1590G>T (p.Glu530Asp)
17	g.80110980dup	CA658795259	GAA	c.1591dup (p.Asp531GlyfsTer7)
17	g.80110980del	CA401367267	GAA	c.1591del (p.Asp531ThrfsTer?)
17	g.80110980G>A	CA401367268	GAA	c.1591G>A (p.Asp531Asn)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110980G>C	CA401367269	GAA	c.1591G>C (p.Asp531His)
17	g.80110980G=	CA2277814204	GAA	c.1591G= (p.Asp531=)
17	g.80110980G>T	CA401367270	GAA	c.1591G>T (p.Asp531Tyr)
17	g.80110981A>C	CA401367271	GAA	c.1592A>C (p.Asp531Ala)
17	g.80110981A>G	CA401367272	GAA	c.1592A>G (p.Asp531Gly)
17	g.80110981A>T	CA401367273	GAA	c.1592A>T (p.Asp531Val)
17	g.80110982C>A	CA401367275	GAA	c.1593C>A (p.Asp531Glu)
17	g.80110982C=	CA2277814205	GAA	c.1593C= (p.Asp531=)
17	g.80110982C>G	CA401367274	GAA	c.1593C>G (p.Asp531Glu)	dbSNP
17	g.80110982C>T	CA8815387	GAA	c.1593C>T (p.Asp531=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110982_80110983delinsCG	CA2277814206	GAA	c.1593_1594delinsCG (p.Asp531=)
17	g.80110983G>A	CA8815388	GAA	c.1594G>A (p.Gly532Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110983G>C	CA401367276	GAA	c.1594G>C (p.Gly532Arg)	ClinVar
17	g.80110983G=	CA2277814207	GAA	c.1594G= (p.Gly532=)
17	g.80110983G>T	CA294895023	GAA	c.1594G>T (p.Gly532Cys)	ClinVar dbSNP gnomAD v4
17	g.80110984del	CA294895015	GAA	c.1595del (p.Gly532AlafsTer?)	dbSNP
17	g.80110984G>A	CA401367277	GAA	c.1595G>A (p.Gly532Asp)
17	g.80110984G>C	CA401367278	GAA	c.1595G>C (p.Gly532Ala)
17	g.80110984G>T	CA401367279	GAA	c.1595G>T (p.Gly532Val)
17	g.80110985C>A	CA502178707	GAA	c.1596C>A (p.Gly532=)
17	g.80110985C>G	CA502178708	GAA	c.1596C>G (p.Gly532=)
17	g.80110985C>T	CA502178709	GAA	c.1596C>T (p.Gly532=)
17	g.80110986T>A	CA401367280	GAA	c.1597T>A (p.Cys533Ser)
17	g.80110986T>C	CA401367281	GAA	c.1597T>C (p.Cys533Arg)	dbSNP gnomAD v3 gnomAD v4
17	g.80110986T>G	CA401367282	GAA	c.1597T>G (p.Cys533Gly)
17	g.80110986T=	CA2277814208	GAA	c.1597T= (p.Cys533=)
17	g.80110987G>A	CA401367283	GAA	c.1598G>A (p.Cys533Tyr)
17	g.80110987G>C	CA401367284	GAA	c.1598G>C (p.Cys533Ser)
17	g.80110987G>T	CA401367285	GAA	c.1598G>T (p.Cys533Phe)	gnomAD v4
17	g.80110988C>A	CA401367286	GAA	c.1599C>A (p.Cys533Ter)
17	g.80110988C=	CA2277814209	GAA	c.1599C= (p.Cys533=)
17	g.80110988C>G	CA401367287	GAA	c.1599C>G (p.Cys533Trp)
17	g.80110988C>T	CA8815389	GAA	c.1599C>T (p.Cys533=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110989C>A	CA401367288	GAA	c.1600C>A (p.Pro534Thr)
17	g.80110989C>G	CA401367290	GAA	c.1600C>G (p.Pro534Ala)
17	g.80110989C>T	CA401367289	GAA	c.1600C>T (p.Pro534Ser)
17	g.80110990C>A	CA401367291	GAA	c.1601C>A (p.Pro534His)
17	g.80110990C=	CA2277814210	GAA	c.1601C= (p.Pro534=)
17	g.80110990C>G	CA401367292	GAA	c.1601C>G (p.Pro534Arg)	ClinVar dbSNP
17	g.80110990C>T	CA294895032	GAA	c.1601C>T (p.Pro534Leu)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80110991C>A	CA502178710	GAA	c.1602C>A (p.Pro534=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80110991C=	CA2277814211	GAA	c.1602C= (p.Pro534=)
17	g.80110991C>G	CA502178711	GAA	c.1602C>G (p.Pro534=)
17	g.80110991C>T	CA502178712	GAA	c.1602C>T (p.Pro534=)
17	g.80110991_80110994delinsAGG	CA913184733	GAA	c.1602_1605delinsAGG (p.Asn535GlyfsTer?)	ClinVar dbSNP
17	g.80110992A>C	CA401367293	GAA	c.1603A>C (p.Asn535His)
17	g.80110992A>G	CA401367294	GAA	c.1603A>G (p.Asn535Asp)
17	g.80110992A>T	CA401367295	GAA	c.1603A>T (p.Asn535Tyr)
17	g.80110993A=	CA2277814212	GAA	c.1604A= (p.Asn535=)
17	g.80110993A>C	CA401367296	GAA	c.1604A>C (p.Asn535Thr)
17	g.80110993A>G	CA401367297	GAA	c.1604A>G (p.Asn535Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110993A>T	CA401367298	GAA	c.1604A>T (p.Asn535Ile)
17	g.80110994C>A	CA401367299	GAA	c.1605C>A (p.Asn535Lys)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80110994C=	CA2277814213	GAA	c.1605C= (p.Asn535=)
17	g.80110994C>G	CA401367300	GAA	c.1605C>G (p.Asn535Lys)
17	g.80110994C>T	CA502178713	GAA	c.1605C>T (p.Asn535=)
17	g.80110995A=	CA2277814214	GAA	c.1606A= (p.Asn536=)
17	g.80110995A>C	CA401367301	GAA	c.1606A>C (p.Asn536His)
17	g.80110995A>G	CA401367302	GAA	c.1606A>G (p.Asn536Asp)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80110995A>T	CA401367303	GAA	c.1606A>T (p.Asn536Tyr)
17	g.80110995_80110996insCAAAACCAAACACACCCAACAC	CA2810585819	GAA	c.1606_1607insCAAAACCAAACACACCCAACAC (p.Asn536ThrfsTer9)
17	g.80110996A=	CA2277814215	GAA	c.1607A= (p.Asn536=)
17	g.80110996A>C	CA401367305	GAA	c.1607A>C (p.Asn536Thr)
17	g.80110996A>G	CA8815390	GAA	c.1607A>G (p.Asn536Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110996A>T	CA401367304	GAA	c.1607A>T (p.Asn536Ile)
17	g.80110997T>A	CA401367306	GAA	c.1608T>A (p.Asn536Lys)
17	g.80110997T>C	CA502178714	GAA	c.1608T>C (p.Asn536=)	gnomAD v4
17	g.80110997T>G	CA401367307	GAA	c.1608T>G (p.Asn536Lys)	ClinVar dbSNP
17	g.80110997T=	CA2277814216	GAA	c.1608T= (p.Asn536=)
17	g.80110998G>A	CA401367308	GAA	c.1609G>A (p.Glu537Lys)
17	g.80110998G>C	CA401367309	GAA	c.1609G>C (p.Glu537Gln)
17	g.80110998G>T	CA401367310	GAA	c.1609G>T (p.Glu537Ter)
17	g.80110998_80110999delinsGA	CA2277814217	GAA	c.1609_1610delinsGA (p.Glu537=)
17	g.80110999del	CA8815391	GAA	c.1610del (p.Glu537GlyfsTer?)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80110999A>C	CA401367311	GAA	c.1610A>C (p.Glu537Ala)
17	g.80110999A>G	CA401367312	GAA	c.1610A>G (p.Glu537Gly)
17	g.80110999A>T	CA401367313	GAA	c.1610A>T (p.Glu537Val)
17	g.80111000G>A	CA502178715	GAA	c.1611G>A (p.Glu537=)
17	g.80111000G>C	CA401367314	GAA	c.1611G>C (p.Glu537Asp)
17	g.80111000G=	CA2277814218	GAA	c.1611G= (p.Glu537=)
17	g.80111000G>T	CA401367315	GAA	c.1611G>T (p.Glu537Asp)	ClinVar dbSNP gnomAD v4
17	g.80111001C>A	CA401367316	GAA	c.1612C>A (p.Leu538Met)
17	g.80111001C=	CA2277814219	GAA	c.1612C= (p.Leu538=)
17	g.80111001C>G	CA401367317	GAA	c.1612C>G (p.Leu538Val)
17	g.80111001C>T	CA502178716	GAA	c.1612C>T (p.Leu538=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80111002T>A	CA401367318	GAA	c.1613T>A (p.Leu538Gln) c.1T>A
17	g.80111002T>C	CA401367319	GAA	c.1613T>C (p.Leu538Pro) c.1T>C
17	g.80111002T>G	CA401367320	GAA	c.1613T>G (p.Leu538Arg) c.1T>G
17	g.80111003G>A	CA502178719	GAA	c.1614G>A (p.Leu538=) c.2G>A	gnomAD v4
17	g.80111003G>C	CA502178717	GAA	c.1614G>C (p.Leu538=) c.2G>C
17	g.80111003G>T	CA502178718	GAA	c.1614G>T (p.Leu538=) c.2G>T
17	g.80111004G>A	CA401367321	GAA	c.1615G>A (p.Glu539Lys) c.3G>A
17	g.80111004G>C	CA401367322	GAA	c.1615G>C (p.Glu539Gln) c.3G>C
17	g.80111004G=	CA2277814220	GAA	c.1615G= (p.Glu539=) c.3G=
17	g.80111004G>T	CA401367323	GAA	c.1615G>T (p.Glu539Ter) c.3G>T	dbSNP gnomAD v3 gnomAD v4
17	g.80111005A>C	CA401367324	GAA	c.1616A>C (p.Glu539Ala) c.4A>C
17	g.80111005A>G	CA401367325	GAA	c.1616A>G (p.Glu539Gly) c.4A>G	ClinVar
17	g.80111005A>T	CA401367326	GAA	c.1616A>T (p.Glu539Val) c.4A>T	gnomAD v4
17	g.80111006G>A	CA502178720	GAA	c.1617G>A (p.Glu539=) c.5G>A
17	g.80111006G>C	CA401367327	GAA	c.1617G>C (p.Glu539Asp) c.5G>C
17	g.80111006G>T	CA401367328	GAA	c.1617G>T (p.Glu539Asp) c.5G>T
17	g.80111007A>C	CA401367331	GAA	c.1618A>C (p.Asn540His) c.6A>C
17	g.80111007A>G	CA401367330	GAA	c.1618A>G (p.Asn540Asp) c.6A>G	gnomAD v4
17	g.80111007A>T	CA401367329	GAA	c.1618A>T (p.Asn540Tyr) c.6A>T
17	g.80111008A=	CA2277814221	GAA	c.1619A= (p.Asn540=) c.7A=
17	g.80111008A>C	CA401367332	GAA	c.1619A>C (p.Asn540Thr) c.7A>C
17	g.80111008A>G	CA401367333	GAA	c.1619A>G (p.Asn540Ser) c.7A>G	ClinVar dbSNP gnomAD v4
17	g.80111008A>T	CA401367334	GAA	c.1619A>T (p.Asn540Ile) c.7A>T
17	g.80111009C>A	CA401367335	GAA	c.1620C>A (p.Asn540Lys) c.8C>A	gnomAD v4
17	g.80111009C=	CA2277814222	GAA	c.1620C= (p.Asn540=) c.8C=
17	g.80111009C>G	CA401367336	GAA	c.1620C>G (p.Asn540Lys) c.8C>G	gnomAD v4
17	g.80111009C>T	CA8815392	GAA	c.1620C>T (p.Asn540=) c.8C>T	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80111010_80111011del	CA2831038988	GAA	c.1621_1622del (p.Pro541ThrfsTer?) c.9_10del
17	g.80111010C>A	CA401367337	GAA	c.1621C>A (p.Pro541Thr) c.9C>A
17	g.80111010C>G	CA401367338	GAA	c.1621C>G (p.Pro541Ala) c.9C>G
17	g.80111010C>T	CA401367339	GAA	c.1621C>T (p.Pro541Ser) c.9C>T
17	g.80111011C>A	CA401367340	GAA	c.1622C>A (p.Pro541Gln) c.10C>A	gnomAD v4
17	g.80111011C>G	CA401367341	GAA	c.1622C>G (p.Pro541Arg) c.10C>G
17	g.80111011C>T	CA401367342	GAA	c.1622C>T (p.Pro541Leu) c.10C>T
17	g.80111012A=	CA2277814223	GAA	c.1623A= (p.Pro541=) c.11A=
17	g.80111012A>C	CA502178721	GAA	c.1623A>C (p.Pro541=) c.11A>C	dbSNP gnomAD v2 gnomAD v4
17	g.80111012A>G	CA502178722	GAA	c.1623A>G (p.Pro541=) c.11A>G
17	g.80111012A>T	CA502178723	GAA	c.1623A>T (p.Pro541=) c.11A>T
17	g.80111012_80111013delinsAC	CA2277814224	GAA	c.1623_1624delinsAC (p.Pro541=) c.11_12delinsAC
17	g.80111013C>A	CA401367345	GAA	c.1624C>A (p.Pro542Thr) c.12C>A	dbSNP gnomAD v2 gnomAD v4
17	g.80111013C=	CA2277814226	GAA	c.1624C= (p.Pro542=) c.12C=
17	g.80111013C>G	CA401367347	GAA	c.1624C>G (p.Pro542Ala) c.12C>G
17	g.80111013C>T	CA8815393	GAA	c.1624C>T (p.Pro542Ser) c.12C>T	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80111015del	CA2277814225	GAA	c.1626del (p.Tyr543ThrfsTer?) c.14del	dbSNP gnomAD v4
17	g.80111014C>A	CA401367349	GAA	c.1625C>A (p.Pro542His) c.13C>A
17	g.80111014C=	CA2277814227	GAA	c.1625C= (p.Pro542=) c.13C=
17	g.80111014C>G	CA401367351	GAA	c.1625C>G (p.Pro542Arg) c.13C>G
17	g.80111014C>T	CA401367352	GAA	c.1625C>T (p.Pro542Leu) c.13C>T	ClinVar dbSNP gnomAD v4
17	g.80111015C>A	CA502178724	GAA	c.1626C>A (p.Pro542=) c.14C>A
17	g.80111015C=	CA2277814228	GAA	c.1626C= (p.Pro542=) c.14C=
17	g.80111015C>G	CA294895065	GAA	c.1626C>G (p.Pro542=) c.14C>G	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80111015C>T	CA502178725	GAA	c.1626C>T (p.Pro542=) c.14C>T	dbSNP
17	g.80111016T>A	CA401367354	GAA	c.1627T>A (p.Tyr543Asn) c.15T>A
17	g.80111016T>C	CA401367355	GAA	c.1627T>C (p.Tyr543His) c.15T>C
17	g.80111016T>G	CA401367357	GAA	c.1627T>G (p.Tyr543Asp) c.15T>G
17	g.80111017A=	CA2277814229	GAA	c.1628A= (p.Tyr543=) c.16A=
17	g.80111017A>C	CA401367364	GAA	c.1628A>C (p.Tyr543Ser) c.16A>C
17	g.80111017A>G	CA401367360	GAA	c.1628A>G (p.Tyr543Cys) c.16A>G	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80111017A>T	CA401367362	GAA	c.1628A>T (p.Tyr543Phe) c.16A>T

Number of alleles fetched