Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80108609_80108697del	CA2810576509	GAA	c.1194+2_1195del
17	g.80108672_80108681delinsAGACGGTCCC	CA2277812905	GAA	c.1195-25_1195-16delinsAGACGGTCCC (n.1195-25_1195-16delinsAGACGGTCCC)
17	g.80108674_80108682del	CA8815220	GAA	c.1195-23_1195-15del (n.1195-23_1195-15del)	dbSNP ExAC gnomAD v2 gnomAD v4
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.80108679C>A	CA2640286408	GAA	c.1195-18C>A (n.1195-18C>A)	ClinVar gnomAD v4
17	g.80108679C>T	CA2640286413	GAA	c.1195-18C>T (n.1195-18C>T)	gnomAD v4
17	g.80108680C>A	CA628018500	GAA	c.1195-17C>A (n.1195-17C>A)	gnomAD v2
17	g.80108680C=	CA2277812912	GAA	c.1195-17C= (n.1195-17C=)
17	g.80108680C>G	CA8815222	GAA	c.1195-17C>G (n.1195-17C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108681C=	CA2277812913	GAA	c.1195-16C= (n.1195-16C=)
17	g.80108681C>T	CA8815224	GAA	c.1195-16C>T (n.1195-16C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108681_80108682insCAGCAGAC	CA8815223	GAA	c.1195-16_1195-15insCAGCAGAC (n.1195-16_1195-15insCAGCAGAC)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108682G>A	CA8815225	GAA	c.1195-15G>A (n.1195-15G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108682G>C	CA8815226	GAA	c.1195-15G>C (n.1195-15G>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108682G=	CA2277812914	GAA	c.1195-15G= (n.1195-15G=)
17	g.80108682G>T	CA2640286435	GAA	c.1195-15G>T (n.1195-15G>T)	gnomAD v4
17	g.80108684G>A	CA2576414021	GAA	c.1195-13G>A (n.1195-13G>A)	gnomAD v4
17	g.80108684G=	CA2277812915	GAA	c.1195-13G= (n.1195-13G=)
17	g.80108684G>T	CA294892461	GAA	c.1195-13G>T (n.1195-13G>T)	dbSNP gnomAD v4
17	g.80108685T>A	CA2640286445	GAA	c.1195-12T>A (n.1195-12T>A)	gnomAD v4
17	g.80108685T>C	CA2277812917	GAA	c.1195-12T>C (n.1195-12T>C)	dbSNP
17	g.80108685T=	CA2277812916	GAA	c.1195-12T= (n.1195-12T=)
17	g.80108686T>A	CA2695227080	GAA	c.1195-11T>A (n.1195-11T>A)
17	g.80108688T>C	CA2499225006	GAA	c.1195-9T>C (n.1195-9T>C)	ClinVar dbSNP
17	g.80108688T>G	CA2640286454	GAA	c.1195-9T>G (n.1195-9T>G)	gnomAD v4
17	g.80108689G>A	CA658795245	GAA	c.1195-8G>A (n.1195-8G>A)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80108689G=	CA2277812918	GAA	c.1195-8G= (n.1195-8G=)
17	g.80108690del	CA2697555249	GAA	c.1195-7del (n.1195-7del)	ClinVar
17	g.80108692T>C	CA2499225007	GAA	c.1195-5T>C (n.1195-5T>C)	ClinVar dbSNP gnomAD v4
17	g.80108693G>A	CA2576414022	GAA	c.1195-4G>A (n.1195-4G>A)	ClinVar
17	g.80108693G=	CA2277812919	GAA	c.1195-4G= (n.1195-4G=)
17	g.80108693G>T	CA10604494	GAA	c.1195-4G>T (n.1195-4G>T)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80108694C=	CA2277812920	GAA	c.1195-3C= (n.1195-3C=)
17	g.80108694C>G	CA8815227	GAA	c.1195-3C>G (n.1195-3C>G)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108694C>T	CA2277812921	GAA	c.1195-3C>T (n.1195-3C>T)	dbSNP gnomAD v4
17	g.80108695A=	CA2277812922	GAA	c.1195-2A= (n.1195-2A=)
17	g.80108695A>C	CA8815229	GAA	c.1195-2A>C (n.1195-2A>C)	ClinVar dbSNP ExAC gnomAD v4
17	g.80108695A>G	CA8815228	GAA	c.1195-2A>G (n.1195-2A>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108695A>T	CA401365147	GAA	c.1195-2A>T (n.1195-2A>T)
17	g.80108696G>A	CA401365148	GAA	c.1195-1G>A (n.1195-1G>A)	ClinVar dbSNP gnomAD v4
17	g.80108696G>C	CA401365149	GAA	c.1195-1G>C (n.1195-1G>C)
17	g.80108696G=	CA2277812923	GAA	c.1195-1G= (n.1195-1G=)
17	g.80108696G>T	CA401365150	GAA	c.1195-1G>T (n.1195-1G>T)	gnomAD v4
17	g.80108697G>A	CA401365151	GAA	c.1195G>A (p.Asp399Asn)	gnomAD v4
17	g.80108697G>C	CA401365152	GAA	c.1195G>C (p.Asp399His)
17	g.80108697G>T	CA401365153	GAA	c.1195G>T (p.Asp399Tyr)	COSMIC
17	g.80108698A>C	CA401365156	GAA	c.1196A>C (p.Asp399Ala)
17	g.80108698A>G	CA401365154	GAA	c.1196A>G (p.Asp399Gly)
17	g.80108698A>T	CA401365155	GAA	c.1196A>T (p.Asp399Val)
17	g.80108701_80108712del	CA658795246	GAA	c.1199_1210del (p.Val400_Asn403del)
17	g.80108699C>A	CA401365157	GAA	c.1197C>A (p.Asp399Glu)
17	g.80108699C=	CA2277812925	GAA	c.1197C= (p.Asp399=)
17	g.80108699C>G	CA401365158	GAA	c.1197C>G (p.Asp399Glu)
17	g.80108699C>T	CA8815230	GAA	c.1197C>T (p.Asp399=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80108699_80108700delinsCG	CA2277812924	GAA	c.1197_1198delinsCG (p.Asp399=)
17	g.80108700del	CA8815231	GAA	c.1198del (p.Val400SerfsTer?)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108700G>A	CA8815232	GAA	c.1198G>A (p.Val400Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108700G>C	CA401365159	GAA	c.1198G>C (p.Val400Leu)
17	g.80108700G=	CA2277812926	GAA	c.1198G= (p.Val400=)
17	g.80108700G>T	CA401365160	GAA	c.1198G>T (p.Val400Phe)
17	g.80108701T>A	CA401365161	GAA	c.1199T>A (p.Val400Asp)
17	g.80108701T>C	CA401365163	GAA	c.1199T>C (p.Val400Ala)	dbSNP gnomAD v2 gnomAD v4
17	g.80108701T>G	CA401365162	GAA	c.1199T>G (p.Val400Gly)
17	g.80108701T=	CA2277812927	GAA	c.1199T= (p.Val400=)
17	g.80108702C>A	CA502402442	GAA	c.1200C>A (p.Val400=)
17	g.80108702C=	CA2277812928	GAA	c.1200C= (p.Val400=)
17	g.80108702C>G	CA502402443	GAA	c.1200C>G (p.Val400=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108702C>T	CA502402444	GAA	c.1200C>T (p.Val400=)	ClinVar dbSNP gnomAD v4
17	g.80108703C>A	CA401365164	GAA	c.1201C>A (p.Gln401Lys)
17	g.80108703C>G	CA401365165	GAA	c.1201C>G (p.Gln401Glu)
17	g.80108703C>T	CA401365166	GAA	c.1201C>T (p.Gln401Ter)	gnomAD v4
17	g.80108704A>C	CA401365167	GAA	c.1202A>C (p.Gln401Pro)
17	g.80108704A>G	CA401365168	GAA	c.1202A>G (p.Gln401Arg)
17	g.80108704A>T	CA401365169	GAA	c.1202A>T (p.Gln401Leu)
17	g.80108704_80108705insAT	CA2547187765	GAA	c.1202_1203insAT (p.Trp402CysfsTer?)
17	g.80108705G>A	CA145749	GAA	c.1203G>A (p.Gln401=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108705G>C	CA401365170	GAA	c.1203G>C (p.Gln401His)
17	g.80108705G=	CA2277812929	GAA	c.1203G= (p.Gln401=)
17	g.80108705G>T	CA401365171	GAA	c.1203G>T (p.Gln401His)
17	g.80108705_80108706insGAACGACACGGGACCGTCTGCTGGGGCCTGAGGAGACGGTCCCGTGTTGTGGCTGCAGGACGTCCAA	CA2504127085	GAA	c.1203_1204insGAACGACACGGGACCGTCTGCTGGGGCCTGAGGAGACGGTCCCGTGTTGTGGCTGCAGGACGTCCAA (p.Trp402GlufsTer?)
17	g.80108706T>A	CA401365172	GAA	c.1204T>A (p.Trp402Arg)
17	g.80108706T>C	CA401365173	GAA	c.1204T>C (p.Trp402Arg)	gnomAD v4
17	g.80108706T>G	CA401365174	GAA	c.1204T>G (p.Trp402Gly)
17	g.80108707G>A	CA401365175	GAA	c.1205G>A (p.Trp402Ter)	ClinVar
17	g.80108707G>C	CA401365177	GAA	c.1205G>C (p.Trp402Ser)
17	g.80108707G>T	CA401365176	GAA	c.1205G>T (p.Trp402Leu)
17	g.80108708G>A	CA401365178	GAA	c.1206G>A (p.Trp402Ter)
17	g.80108708G>C	CA401365179	GAA	c.1206G>C (p.Trp402Cys)
17	g.80108708G>T	CA401365180	GAA	c.1206G>T (p.Trp402Cys)
17	g.80108709A>C	CA401365181	GAA	c.1207A>C (p.Asn403His)
17	g.80108709A>G	CA401365182	GAA	c.1207A>G (p.Asn403Asp)
17	g.80108709A>T	CA401365183	GAA	c.1207A>T (p.Asn403Tyr)
17	g.80108710A>C	CA401365184	GAA	c.1208A>C (p.Asn403Thr)
17	g.80108710A>G	CA401365185	GAA	c.1208A>G (p.Asn403Ser)
17	g.80108710A>T	CA401365186	GAA	c.1208A>T (p.Asn403Ile)
17	g.80108711del	CA658795247	GAA	c.1209del (p.Asn403LysfsTer?)
17	g.80108711C>A	CA401365187	GAA	c.1209C>A (p.Asn403Lys)
17	g.80108711C=	CA2277812930	GAA	c.1209C= (p.Asn403=)
17	g.80108711C>G	CA401365188	GAA	c.1209C>G (p.Asn403Lys)
17	g.80108711C>T	CA8815233	GAA	c.1209C>T (p.Asn403=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108712G>A	CA8815234	GAA	c.1210G>A (p.Asp404Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108712G>C	CA401365190	GAA	c.1210G>C (p.Asp404His)
17	g.80108712G=	CA2277812931	GAA	c.1210G= (p.Asp404=)
17	g.80108712G>T	CA401365189	GAA	c.1210G>T (p.Asp404Tyr)	gnomAD v4
17	g.80108713A=	CA2277812932	GAA	c.1211A= (p.Asp404=)
17	g.80108713A>C	CA401365191	GAA	c.1211A>C (p.Asp404Ala)
17	g.80108713A>G	CA401365192	GAA	c.1211A>G (p.Asp404Gly)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80108713A>T	CA10604928	GAA	c.1211A>T (p.Asp404Val)	ClinVar dbSNP gnomAD v4
17	g.80108714C>A	CA401365193	GAA	c.1212C>A (p.Asp404Glu)
17	g.80108714C>G	CA401365194	GAA	c.1212C>G (p.Asp404Glu)
17	g.80108714C>T	CA502402447	GAA	c.1212C>T (p.Asp404=)	ClinVar dbSNP gnomAD v4
17	g.80108715C>A	CA401365196	GAA	c.1213C>A (p.Leu405Met)
17	g.80108715C>G	CA401365195	GAA	c.1213C>G (p.Leu405Val)
17	g.80108715C>T	CA502402448	GAA	c.1213C>T (p.Leu405=)
17	g.80108716T>A	CA401365197	GAA	c.1214T>A (p.Leu405Gln)
17	g.80108716T>C	CA401365198	GAA	c.1214T>C (p.Leu405Pro)	ClinVar dbSNP
17	g.80108716T>G	CA401365199	GAA	c.1214T>G (p.Leu405Arg)
17	g.80108717G>A	CA502402453	GAA	c.1215G>A (p.Leu405=)	ClinVar gnomAD v4
17	g.80108717G>C	CA502402454	GAA	c.1215G>C (p.Leu405=)
17	g.80108717G=	CA2277812933	GAA	c.1215G= (p.Leu405=)
17	g.80108717G>T	CA502402452	GAA	c.1215G>T (p.Leu405=)	dbSNP
17	g.80108718G>A	CA401365200	GAA	c.1216G>A (p.Asp406Asn)	ClinVar dbSNP
17	g.80108718G>C	CA401365201	GAA	c.1216G>C (p.Asp406His)
17	g.80108718G=	CA2277812934	GAA	c.1216G= (p.Asp406=)
17	g.80108718G>T	CA401365202	GAA	c.1216G>T (p.Asp406Tyr)	COSMIC
17	g.80108719A>C	CA401365205	GAA	c.1217A>C (p.Asp406Ala)
17	g.80108719A>G	CA401365204	GAA	c.1217A>G (p.Asp406Gly)
17	g.80108719A>T	CA401365203	GAA	c.1217A>T (p.Asp406Val)
17	g.80108720C>A	CA401365206	GAA	c.1218C>A (p.Asp406Glu)
17	g.80108720C=	CA2277812935	GAA	c.1218C= (p.Asp406=)
17	g.80108720C>G	CA401365207	GAA	c.1218C>G (p.Asp406Glu)
17	g.80108720C>T	CA502402464	GAA	c.1218C>T (p.Asp406=)	ClinVar dbSNP gnomAD v4
17	g.80108721T>A	CA401365208	GAA	c.1219T>A (p.Tyr407Asn)
17	g.80108721T>C	CA234047	GAA	c.1219T>C (p.Tyr407His)	ClinVar dbSNP
17	g.80108721T>G	CA401365209	GAA	c.1219T>G (p.Tyr407Asp)
17	g.80108721T=	CA2277812936	GAA	c.1219T= (p.Tyr407=)
17	g.80108722A=	CA2277812937	GAA	c.1220A= (p.Tyr407=)
17	g.80108722A>C	CA401365210	GAA	c.1220A>C (p.Tyr407Ser)
17	g.80108722A>G	CA8815235	GAA	c.1220A>G (p.Tyr407Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108722A>T	CA401365211	GAA	c.1220A>T (p.Tyr407Phe)
17	g.80108723del	CA2695227081	GAA	c.1221del (p.Tyr407Ter)
17	g.80108723C>A	CA401365212	GAA	c.1221C>A (p.Tyr407Ter)
17	g.80108723C>G	CA401365213	GAA	c.1221C>G (p.Tyr407Ter)
17	g.80108723C>T	CA502402469	GAA	c.1221C>T (p.Tyr407=)
17	g.80108724A=	CA2277812938	GAA	c.1222A= (p.Met408=)
17	g.80108724A>C	CA401365214	GAA	c.1222A>C (p.Met408Leu)	dbSNP
17	g.80108724A>G	CA8815236	GAA	c.1222A>G (p.Met408Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108724A>T	CA8815237	GAA	c.1222A>T (p.Met408Leu)	dbSNP ExAC gnomAD v2
17	g.80108725T>A	CA401365215	GAA	c.1223T>A (p.Met408Lys)	gnomAD v4
17	g.80108725T>C	CA401365216	GAA	c.1223T>C (p.Met408Thr)	ClinVar
17	g.80108725T>G	CA401365217	GAA	c.1223T>G (p.Met408Arg)
17	g.80108725T=	CA2277812939	GAA	c.1223T= (p.Met408=)
17	g.80108726G>A	CA401365218	GAA	c.1224G>A (p.Met408Ile)
17	g.80108726G>C	CA401365219	GAA	c.1224G>C (p.Met408Ile)
17	g.80108726G>T	CA401365220	GAA	c.1224G>T (p.Met408Ile)
17	g.80108727dup	CA923726362	GAA	c.1225dup (p.Asp409GlyfsTer?)	ClinVar dbSNP
17	g.80108727G>A	CA401365221	GAA	c.1225G>A (p.Asp409Asn)	gnomAD v4
17	g.80108727G>C	CA401365222	GAA	c.1225G>C (p.Asp409His)
17	g.80108727G>T	CA401365223	GAA	c.1225G>T (p.Asp409Tyr)
17	g.80108727_80108744del	CA2734102231	GAA	c.1225_1242del (p.Asp409_Phe414del)	dbSNP
17	g.80108728A=	CA2277812940	GAA	c.1226A= (p.Asp409=)
17	g.80108728A>C	CA401365226	GAA	c.1226A>C (p.Asp409Ala)
17	g.80108728A>G	CA401365224	GAA	c.1226A>G (p.Asp409Gly)
17	g.80108728A>T	CA401365225	GAA	c.1226A>T (p.Asp409Val)
17	g.80108728_80108729insG	CA915952251	GAA	c.1226_1227insG (p.Asp409GlufsTer?)	ClinVar dbSNP
17	g.80108729C>A	CA401365227	GAA	c.1227C>A (p.Asp409Glu)
17	g.80108729C=	CA2277812941	GAA	c.1227C= (p.Asp409=)
17	g.80108729C>G	CA401365228	GAA	c.1227C>G (p.Asp409Glu)
17	g.80108729C>T	CA502402484	GAA	c.1227C>T (p.Asp409=)	ClinVar dbSNP gnomAD v4
17	g.80108730T>A	CA401365229	GAA	c.1228T>A (p.Ser410Thr)
17	g.80108730T>C	CA401365230	GAA	c.1228T>C (p.Ser410Pro)	ClinVar dbSNP
17	g.80108730T>G	CA401365231	GAA	c.1228T>G (p.Ser410Ala)
17	g.80108730T=	CA2277812942	GAA	c.1228T= (p.Ser410=)
17	g.80108731C>A	CA401365232	GAA	c.1229C>A (p.Ser410Tyr)
17	g.80108731C=	CA2277812943	GAA	c.1229C= (p.Ser410=)
17	g.80108731C>G	CA401365233	GAA	c.1229C>G (p.Ser410Cys)
17	g.80108731C>T	CA8815238	GAA	c.1229C>T (p.Ser410Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108733del	CA2695227082	GAA	c.1231del (p.Arg411GlyfsTer29)
17	g.80108732C>A	CA8815239	GAA	c.1230C>A (p.Ser410=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108732C=	CA2277812944	GAA	c.1230C= (p.Ser410=)
17	g.80108732C>G	CA502402492	GAA	c.1230C>G (p.Ser410=)
17	g.80108732C>T	CA502402490	GAA	c.1230C>T (p.Ser410=)	dbSNP gnomAD v2 gnomAD v4
17	g.80108733C>A	CA502402493	GAA	c.1231C>A (p.Arg411=)
17	g.80108733C=	CA2277812945	GAA	c.1231C= (p.Arg411=)
17	g.80108733C>G	CA401365234	GAA	c.1231C>G (p.Arg411Gly)
17	g.80108733C>T	CA8815240	GAA	c.1231C>T (p.Arg411Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80108734G>A	CA8815241	GAA	c.1232G>A (p.Arg411Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108734G>C	CA401365236	GAA	c.1232G>C (p.Arg411Pro)	ClinVar dbSNP
17	g.80108734G=	CA2277812946	GAA	c.1232G= (p.Arg411=)
17	g.80108734G>T	CA401365235	GAA	c.1232G>T (p.Arg411Leu)
17	g.80108736_80108738dup	CA2573154959	GAA	c.1234_1236dup (p.Arg412_Asp413insArg)	ClinVar dbSNP
17	g.80108735G>A	CA502402504	GAA	c.1233G>A (p.Arg411=)
17	g.80108735G>C	CA502402499	GAA	c.1233G>C (p.Arg411=)
17	g.80108735G>T	CA502402502	GAA	c.1233G>T (p.Arg411=)	gnomAD v4
17	g.80108736A=	CA2277812947	GAA	c.1234A= (p.Arg412=)
17	g.80108736A>C	CA502402505	GAA	c.1234A>C (p.Arg412=)	ClinVar
17	g.80108736A>G	CA401365237	GAA	c.1234A>G (p.Arg412Gly)	dbSNP gnomAD v2 gnomAD v4
17	g.80108736A>T	CA401365238	GAA	c.1234A>T (p.Arg412Trp)
17	g.80108737G>A	CA294892536	GAA	c.1235G>A (p.Arg412Lys)	dbSNP gnomAD v3 gnomAD v4
17	g.80108737G>C	CA401365239	GAA	c.1235G>C (p.Arg412Thr)
17	g.80108737G=	CA2277812948	GAA	c.1235G= (p.Arg412=)
17	g.80108737G>T	CA401365240	GAA	c.1235G>T (p.Arg412Met)
17	g.80108745_80108774del	CA2695227083	GAA	c.1243_1272del (p.Thr415_Phe424del)
17	g.80108738G>A	CA502402510	GAA	c.1236G>A (p.Arg412=)	ClinVar
17	g.80108738G>C	CA401365241	GAA	c.1236G>C (p.Arg412Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.80108738G=	CA2277812949	GAA	c.1236G= (p.Arg412=)
17	g.80108738G>T	CA401365242	GAA	c.1236G>T (p.Arg412Ser)
17	g.80108739G>A	CA401365243	GAA	c.1237G>A (p.Asp413Asn)
17	g.80108739G>C	CA401365244	GAA	c.1237G>C (p.Asp413His)
17	g.80108739G>T	CA401365245	GAA	c.1237G>T (p.Asp413Tyr)
17	g.80108740A>C	CA401365246	GAA	c.1238A>C (p.Asp413Ala)
17	g.80108740A>G	CA401365247	GAA	c.1238A>G (p.Asp413Gly)
17	g.80108740A>T	CA401365248	GAA	c.1238A>T (p.Asp413Val)
17	g.80108741C>A	CA401365249	GAA	c.1239C>A (p.Asp413Glu)
17	g.80108741C=	CA2277812950	GAA	c.1239C= (p.Asp413=)
17	g.80108741C>G	CA401365250	GAA	c.1239C>G (p.Asp413Glu)	ClinVar
17	g.80108741C>T	CA502402520	GAA	c.1239C>T (p.Asp413=)	ClinVar dbSNP gnomAD v4
17	g.80108742T>A	CA401365251	GAA	c.1240T>A (p.Phe414Ile)
17	g.80108742T>C	CA10604498	GAA	c.1240T>C (p.Phe414Leu)	ClinVar dbSNP
17	g.80108742T>G	CA401365252	GAA	c.1240T>G (p.Phe414Val)
17	g.80108742T=	CA2277812951	GAA	c.1240T= (p.Phe414=)
17	g.80108743del	CA913184736	GAA	c.1241del (p.Phe414SerfsTer26)	ClinVar
17	g.80108743T>A	CA401365253	GAA	c.1241T>A (p.Phe414Tyr)
17	g.80108743T>C	CA401365254	GAA	c.1241T>C (p.Phe414Ser)
17	g.80108743T>G	CA401365255	GAA	c.1241T>G (p.Phe414Cys)
17	g.80108743_80108746del	CA913014094	GAA	c.1241_1244del (p.Phe414CysfsTer25)
17	g.80108743_80108746delinsTCAC	CA2277812952	GAA	c.1241_1244delinsTCAC (p.Phe414=)
17	g.80108744C>A	CA401365256	GAA	c.1242C>A (p.Phe414Leu)
17	g.80108744C>G	CA401365257	GAA	c.1242C>G (p.Phe414Leu)
17	g.80108744C>T	CA502402530	GAA	c.1242C>T (p.Phe414=)
17	g.80108744_80108746del	CA658824781	GAA	c.1242_1244del (p.Phe414_Thr415delinsLeu)	ClinVar dbSNP
17	g.80108745_80108746del	CA2580095334	GAA	c.1243_1244del (p.Thr415ValfsTer?)	ClinVar
17	g.80108745A=	CA2277812953	GAA	c.1243A= (p.Thr415=)
17	g.80108745A>C	CA401365258	GAA	c.1243A>C (p.Thr415Pro)
17	g.80108745A>G	CA401365259	GAA	c.1243A>G (p.Thr415Ala)	dbSNP gnomAD v4
17	g.80108745A>T	CA401365260	GAA	c.1243A>T (p.Thr415Ser)
17	g.80108746C>A	CA401365262	GAA	c.1244C>A (p.Thr415Lys)
17	g.80108746C=	CA2277812954	GAA	c.1244C= (p.Thr415=)
17	g.80108746C>G	CA401365261	GAA	c.1244C>G (p.Thr415Arg)
17	g.80108746C>T	CA294892544	GAA	c.1244C>T (p.Thr415Met)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108747G>A	CA8815242	GAA	c.1245G>A (p.Thr415=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108747G>C	CA502402535	GAA	c.1245G>C (p.Thr415=)
17	g.80108747G=	CA2277812955	GAA	c.1245G= (p.Thr415=)
17	g.80108747G>T	CA502402536	GAA	c.1245G>T (p.Thr415=)	dbSNP gnomAD v4
17	g.80108748T>A	CA401365263	GAA	c.1246T>A (p.Phe416Ile)
17	g.80108748T>C	CA401365264	GAA	c.1246T>C (p.Phe416Leu)
17	g.80108748T>G	CA401365265	GAA	c.1246T>G (p.Phe416Val)	ClinVar
17	g.80108749T>A	CA401365266	GAA	c.1247T>A (p.Phe416Tyr)
17	g.80108749T>C	CA401365267	GAA	c.1247T>C (p.Phe416Ser)
17	g.80108749T>G	CA401365268	GAA	c.1247T>G (p.Phe416Cys)
17	g.80108750C>A	CA401365269	GAA	c.1248C>A (p.Phe416Leu)
17	g.80108750C=	CA2277812956	GAA	c.1248C= (p.Phe416=)
17	g.80108750C>G	CA401365270	GAA	c.1248C>G (p.Phe416Leu)
17	g.80108750C>T	CA502402544	GAA	c.1248C>T (p.Phe416=)	dbSNP
17	g.80108751A>C	CA401365271	GAA	c.1249A>C (p.Asn417His)
17	g.80108751A>G	CA401365272	GAA	c.1249A>G (p.Asn417Asp)
17	g.80108751A>T	CA401365273	GAA	c.1249A>T (p.Asn417Tyr)
17	g.80108752A>C	CA401365274	GAA	c.1250A>C (p.Asn417Thr)
17	g.80108752A>G	CA401365275	GAA	c.1250A>G (p.Asn417Ser)
17	g.80108752A>T	CA401365276	GAA	c.1250A>T (p.Asn417Ile)
17	g.80108753C>A	CA401365277	GAA	c.1251C>A (p.Asn417Lys)
17	g.80108753C=	CA2277812957	GAA	c.1251C= (p.Asn417=)
17	g.80108753C>G	CA401365278	GAA	c.1251C>G (p.Asn417Lys)	dbSNP gnomAD v2
17	g.80108753C>T	CA502402549	GAA	c.1251C>T (p.Asn417=)	ClinVar
17	g.80108754A>C	CA401365279	GAA	c.1252A>C (p.Lys418Gln)
17	g.80108754A>G	CA401365280	GAA	c.1252A>G (p.Lys418Glu)	ClinVar
17	g.80108754A>T	CA401365281	GAA	c.1252A>T (p.Lys418Ter)
17	g.80108754_80108787delinsAAGGATGGCTTCCGGGACTTCCCGGCCATGGTGC	CA2277812958	GAA	c.1252_1285delinsAAGGATGGCTTCCGGGACTTCCCGGCCATGGTGC (p.Lys418=)
17	g.80108755A=	CA2277812959	GAA	c.1253A= (p.Lys418=)
17	g.80108755A>C	CA401365282	GAA	c.1253A>C (p.Lys418Thr)
17	g.80108755A>G	CA401365283	GAA	c.1253A>G (p.Lys418Arg)	ClinVar dbSNP gnomAD v4
17	g.80108755A>T	CA401365284	GAA	c.1253A>T (p.Lys418Met)
17	g.80108759_80108791del	CA913191006	GAA	c.1257_1289del (p.Asp419_Gln429del)	ClinVar dbSNP gnomAD v4
17	g.80108756G>A	CA8815243	GAA	c.1254G>A (p.Lys418=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108756G>C	CA401365285	GAA	c.1254G>C (p.Lys418Asn)
17	g.80108756G=	CA2277812960	GAA	c.1254G= (p.Lys418=)
17	g.80108756G>T	CA401365286	GAA	c.1254G>T (p.Lys418Asn)
17	g.80108757G>A	CA401365287	GAA	c.1255G>A (p.Asp419Asn)
17	g.80108757G>C	CA401365288	GAA	c.1255G>C (p.Asp419His)
17	g.80108757G>T	CA401365289	GAA	c.1255G>T (p.Asp419Tyr)
17	g.80108758A=	CA2277812961	GAA	c.1256A= (p.Asp419=)
17	g.80108758A>C	CA401365290	GAA	c.1256A>C (p.Asp419Ala)
17	g.80108758A>G	CA401365292	GAA	c.1256A>G (p.Asp419Gly)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80108758A>T	CA401365291	GAA	c.1256A>T (p.Asp419Val)
17	g.80108759T>A	CA401365293	GAA	c.1257T>A (p.Asp419Glu)
17	g.80108759T>C	CA502402559	GAA	c.1257T>C (p.Asp419=)
17	g.80108759T>G	CA401365294	GAA	c.1257T>G (p.Asp419Glu)
17	g.80108760G>A	CA294892550	GAA	c.1258G>A (p.Gly420Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.80108760G>C	CA401365295	GAA	c.1258G>C (p.Gly420Arg)
17	g.80108760G=	CA2277812962	GAA	c.1258G= (p.Gly420=)
17	g.80108760G>T	CA401365296	GAA	c.1258G>T (p.Gly420Cys)
17	g.80108761G>A	CA401365297	GAA	c.1259G>A (p.Gly420Asp)	dbSNP gnomAD v2 gnomAD v4
17	g.80108761G>C	CA401365298	GAA	c.1259G>C (p.Gly420Ala)
17	g.80108761G=	CA2277812963	GAA	c.1259G= (p.Gly420=)
17	g.80108761G>T	CA401365299	GAA	c.1259G>T (p.Gly420Val)
17	g.80108762C>A	CA502402563	GAA	c.1260C>A (p.Gly420=)	ClinVar
17	g.80108762C=	CA2277812964	GAA	c.1260C= (p.Gly420=)
17	g.80108762C>G	CA502402564	GAA	c.1260C>G (p.Gly420=)	ClinVar gnomAD v4
17	g.80108762C>T	CA502402565	GAA	c.1260C>T (p.Gly420=)	dbSNP gnomAD v2
17	g.80108763T>A	CA401365300	GAA	c.1261T>A (p.Phe421Ile)
17	g.80108763T>C	CA401365301	GAA	c.1261T>C (p.Phe421Leu)
17	g.80108763T>G	CA401365302	GAA	c.1261T>G (p.Phe421Val)	COSMIC
17	g.80108764dup	CA2695227084	GAA	c.1262dup (p.Arg422ProfsTer?)
17	g.80108764T>A	CA401365305	GAA	c.1262T>A (p.Phe421Tyr)
17	g.80108764T>C	CA401365304	GAA	c.1262T>C (p.Phe421Ser)	gnomAD v4
17	g.80108764T>G	CA401365303	GAA	c.1262T>G (p.Phe421Cys)
17	g.80108765C>A	CA401365306	GAA	c.1263C>A (p.Phe421Leu)
17	g.80108765C>G	CA401365307	GAA	c.1263C>G (p.Phe421Leu)
17	g.80108765C>T	CA502402569	GAA	c.1263C>T (p.Phe421=)
17	g.80108766C>A	CA502402571	GAA	c.1264C>A (p.Arg422=)
17	g.80108766C=	CA2277812965	GAA	c.1264C= (p.Arg422=)
17	g.80108766C>G	CA401365308	GAA	c.1264C>G (p.Arg422Gly)
17	g.80108766C>T	CA8815244	GAA	c.1264C>T (p.Arg422Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108767G>A	CA8815245	GAA	c.1265G>A (p.Arg422Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108767G>C	CA401365309	GAA	c.1265G>C (p.Arg422Pro)	gnomAD v4
17	g.80108767G=	CA2277812966	GAA	c.1265G= (p.Arg422=)
17	g.80108767G>T	CA401365310	GAA	c.1265G>T (p.Arg422Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.80108768G>A	CA502402575	GAA	c.1266G>A (p.Arg422=)
17	g.80108768G>C	CA502402576	GAA	c.1266G>C (p.Arg422=)
17	g.80108768G>T	CA502402577	GAA	c.1266G>T (p.Arg422=)	gnomAD v4
17	g.80108769G>A	CA401365311	GAA	c.1267G>A (p.Asp423Asn)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80108769G>C	CA401365312	GAA	c.1267G>C (p.Asp423His)	gnomAD v4
17	g.80108769G=	CA2277812967	GAA	c.1267G= (p.Asp423=)
17	g.80108769G>T	CA401365313	GAA	c.1267G>T (p.Asp423Tyr)
17	g.80108770A>C	CA401365314	GAA	c.1268A>C (p.Asp423Ala)
17	g.80108770A>G	CA401365315	GAA	c.1268A>G (p.Asp423Gly)
17	g.80108770A>T	CA401365316	GAA	c.1268A>T (p.Asp423Val)
17	g.80108771C>A	CA401365317	GAA	c.1269C>A (p.Asp423Glu)
17	g.80108771C>G	CA401365318	GAA	c.1269C>G (p.Asp423Glu)
17	g.80108771C>T	CA502402581	GAA	c.1269C>T (p.Asp423=)
17	g.80108772T>A	CA401365319	GAA	c.1270T>A (p.Phe424Ile)
17	g.80108772T>C	CA401365321	GAA	c.1270T>C (p.Phe424Leu)
17	g.80108772T>G	CA401365320	GAA	c.1270T>G (p.Phe424Val)
17	g.80108773del	CA2640286692	GAA	c.1271del (p.Phe424SerfsTer16)	gnomAD v4
17	g.80108773T>A	CA401365322	GAA	c.1271T>A (p.Phe424Tyr)
17	g.80108773T>C	CA401365324	GAA	c.1271T>C (p.Phe424Ser)
17	g.80108773T>G	CA401365323	GAA	c.1271T>G (p.Phe424Cys)
17	g.80108774C>A	CA401365325	GAA	c.1272C>A (p.Phe424Leu)
17	g.80108774C>G	CA401365326	GAA	c.1272C>G (p.Phe424Leu)
17	g.80108774C>T	CA502402585	GAA	c.1272C>T (p.Phe424=)
17	g.80108776del	CA2640286697	GAA	c.1274del (p.Pro425ArgfsTer15)	ClinVar gnomAD v4
17	g.80108775C>A	CA401365327	GAA	c.1273C>A (p.Pro425Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108775C=	CA2277812968	GAA	c.1273C= (p.Pro425=)
17	g.80108775C>G	CA401365328	GAA	c.1273C>G (p.Pro425Ala)
17	g.80108775C>T	CA401365329	GAA	c.1273C>T (p.Pro425Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108776C>A	CA8815247	GAA	c.1274C>A (p.Pro425Gln)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108776C=	CA2277812969	GAA	c.1274C= (p.Pro425=)
17	g.80108776C>G	CA401365330	GAA	c.1274C>G (p.Pro425Arg)
17	g.80108776C>T	CA8815246	GAA	c.1274C>T (p.Pro425Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108777G>A	CA8815248	GAA	c.1275G>A (p.Pro425=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108777G>C	CA502402589	GAA	c.1275G>C (p.Pro425=)
17	g.80108777G=	CA2277812970	GAA	c.1275G= (p.Pro425=)
17	g.80108777G>T	CA502402590	GAA	c.1275G>T (p.Pro425=)
17	g.80108778G>A	CA401365331	GAA	c.1276G>A (p.Ala426Thr)	ClinVar dbSNP
17	g.80108778G>C	CA401365332	GAA	c.1276G>C (p.Ala426Pro)
17	g.80108778G>T	CA401365333	GAA	c.1276G>T (p.Ala426Ser)
17	g.80108779C>A	CA401365334	GAA	c.1277C>A (p.Ala426Asp)	gnomAD v4
17	g.80108779C>G	CA401365336	GAA	c.1277C>G (p.Ala426Gly)
17	g.80108779C>T	CA401365335	GAA	c.1277C>T (p.Ala426Val)	COSMIC

Number of alleles fetched