Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80104734_80107789del	CA658795223	GAA	c.148_859-11del	ClinVar
17	g.80107612_80107623del	CA2640279336	GAA	c.748_759del (p.Thr250_Pro253del)	gnomAD v4
17	g.80107612A=	CA2277812257	GAA	c.748A= (p.Thr250=)
17	g.80107612A>C	CA401363288	GAA	c.748A>C (p.Thr250Pro)
17	g.80107612A>G	CA401363286	GAA	c.748A>G (p.Thr250Ala)	ClinVar dbSNP gnomAD v4
17	g.80107612A>T	CA401363284	GAA	c.748A>T (p.Thr250Ser)	dbSNP gnomAD v3 gnomAD v4
17	g.80107613C>A	CA401363292	GAA	c.749C>A (p.Thr250Asn)
17	g.80107613C=	CA2277812258	GAA	c.749C= (p.Thr250=)
17	g.80107613C>G	CA401363295	GAA	c.749C>G (p.Thr250Ser)
17	g.80107613C>T	CA401363297	GAA	c.749C>T (p.Thr250Ile)	dbSNP gnomAD v2
17	g.80107619_80107627del	CA2640279352	GAA	c.755_763del (p.Leu252_Ser254del)	gnomAD v4
17	g.80107614C>A	CA502402615	GAA	c.750C>A (p.Thr250=)
17	g.80107614C>G	CA502402613	GAA	c.750C>G (p.Thr250=)
17	g.80107614C>T	CA502402614	GAA	c.750C>T (p.Thr250=)	ClinVar dbSNP gnomAD v4
17	g.80107615T>A	CA401363302	GAA	c.751T>A (p.Ser251Thr)
17	g.80107615T>C	CA401363304	GAA	c.751T>C (p.Ser251Pro)
17	g.80107615T>G	CA401363308	GAA	c.751T>G (p.Ser251Ala)
17	g.80107616C>A	CA401363310	GAA	c.752C>A (p.Ser251Ter)
17	g.80107616C=	CA2277812259	GAA	c.752C= (p.Ser251=)
17	g.80107616C>G	CA401363312	GAA	c.752C>G (p.Ser251Trp)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80107616C>T	CA8815007	GAA	c.752C>T (p.Ser251Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.[80107616C>T;80107625C>T]	CA2573102892	GAA	c.[752C>T;761C>T] (p.[Ser251Leu;Ser254Leu])
17	g.80107616_80107625delinsTGCTGCCCTT	CA2695227069	GAA	c.752_761delinsTGCTGCCCTT (p.Ser251_Ser254delinsLeuLeuProLeu)
17	g.80107617G>A	CA8815008	GAA	c.753G>A (p.Ser251=)	ClinVar dbSNP ExAC gnomAD v4
17	g.80107617G>C	CA502402622	GAA	c.753G>C (p.Ser251=)
17	g.80107617G=	CA2277812260	GAA	c.753G= (p.Ser251=)
17	g.80107617G>T	CA502402625	GAA	c.753G>T (p.Ser251=)	ClinVar dbSNP
17	g.80107618C>A	CA401363320	GAA	c.754C>A (p.Leu252Met)
17	g.80107618C=	CA2277812261	GAA	c.754C= (p.Leu252=)
17	g.80107618C>G	CA401363323	GAA	c.754C>G (p.Leu252Val)
17	g.80107618C>T	CA502402627	GAA	c.754C>T (p.Leu252=)	ClinVar dbSNP gnomAD v4
17	g.80107618dup	CA913014090	GAA	c.754dup (p.Leu252ProfsTer?)
17	g.80107619T>A	CA401363329	GAA	c.755T>A (p.Leu252Gln)
17	g.80107619T>C	CA401363327	GAA	c.755T>C (p.Leu252Pro)
17	g.80107619T>G	CA401363326	GAA	c.755T>G (p.Leu252Arg)
17	g.80107619dup	CA658824779	GAA	c.755dup (p.Pro253AlafsTer?)	ClinVar dbSNP
17	g.80107620G>A	CA502402628	GAA	c.756G>A (p.Leu252=)	ClinVar gnomAD v4
17	g.80107620G>C	CA502402629	GAA	c.756G>C (p.Leu252=)
17	g.80107620G>T	CA502402630	GAA	c.756G>T (p.Leu252=)
17	g.80107620_80107621delinsGC	CA2277812262	GAA	c.756_757delinsGC (p.Leu252=)
17	g.80107620_80107621insT	CA2695227070	GAA	c.756_757insT (p.Pro253SerfsTer?)
17	g.80107621C>A	CA401363333	GAA	c.757C>A (p.Pro253Thr)
17	g.80107621C>G	CA401363335	GAA	c.757C>G (p.Pro253Ala)
17	g.80107621C>T	CA401363337	GAA	c.757C>T (p.Pro253Ser)	ClinVar dbSNP gnomAD v4
17	g.80107623del	CA916082438	GAA	c.759del (p.Ser254ArgfsTer14)	ClinVar dbSNP gnomAD v4
17	g.80107622C>A	CA401363342	GAA	c.758C>A (p.Pro253His)	gnomAD v4
17	g.80107622C=	CA2277812263	GAA	c.758C= (p.Pro253=)
17	g.80107622C>G	CA401363344	GAA	c.758C>G (p.Pro253Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107622C>T	CA401363346	GAA	c.758C>T (p.Pro253Leu)
17	g.80107623_80107627del	CA2499225002	GAA	c.759_763del (p.Ser254ValfsTer?)	dbSNP
17	g.80107623C>A	CA502402633	GAA	c.759C>A (p.Pro253=)
17	g.80107623C=	CA2277812264	GAA	c.759C= (p.Pro253=)
17	g.80107623C>G	CA502402634	GAA	c.759C>G (p.Pro253=)
17	g.80107623C>T	CA502402635	GAA	c.759C>T (p.Pro253=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80107624T>A	CA401363351	GAA	c.760T>A (p.Ser254Thr)
17	g.80107624T>C	CA401363355	GAA	c.760T>C (p.Ser254Pro)
17	g.80107624T>G	CA401363356	GAA	c.760T>G (p.Ser254Ala)
17	g.80107625C>A	CA401363360	GAA	c.761C>A (p.Ser254Ter)
17	g.80107625C=	CA2277812265	GAA	c.761C= (p.Ser254=)
17	g.80107625C>G	CA401363363	GAA	c.761C>G (p.Ser254Trp)	gnomAD v4
17	g.80107625C>T	CA8815009	GAA	c.761C>T (p.Ser254Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80107626G>A	CA8815010	GAA	c.762G>A (p.Ser254=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107626G>C	CA502402638	GAA	c.762G>C (p.Ser254=)	gnomAD v4
17	g.80107626G=	CA2277812266	GAA	c.762G= (p.Ser254=)
17	g.80107626G>T	CA502402639	GAA	c.762G>T (p.Ser254=)
17	g.80107627C>A	CA401363375	GAA	c.763C>A (p.Gln255Lys)
17	g.80107627C=	CA2277812267	GAA	c.763C= (p.Gln255=)
17	g.80107627C>G	CA401363373	GAA	c.763C>G (p.Gln255Glu)
17	g.80107627C>T	CA401363371	GAA	c.763C>T (p.Gln255Ter)	ClinVar dbSNP
17	g.80107628A=	CA2277812269	GAA	c.764A= (p.Gln255=)
17	g.80107628A>C	CA401363381	GAA	c.764A>C (p.Gln255Pro)
17	g.80107628A>G	CA401363379	GAA	c.764A>G (p.Gln255Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80107628A>T	CA401363384	GAA	c.764A>T (p.Gln255Leu)
17	g.80107628_80107647delinsAGTATATCACAGGCCTCGCC	CA2277812268	GAA	c.764_783delinsAGTATATCACAGGCCTCGCC (p.Gln255=)
17	g.80107629G>A	CA502402642	GAA	c.765G>A (p.Gln255=)	ClinVar dbSNP gnomAD v4
17	g.80107629G>C	CA401363387	GAA	c.765G>C (p.Gln255His)
17	g.80107629G=	CA2277812271	GAA	c.765G= (p.Gln255=)
17	g.80107629G>T	CA401363390	GAA	c.765G>T (p.Gln255His)	dbSNP gnomAD v2 gnomAD v4
17	g.80107630_80107648del	CA775511087	GAA	c.766_784del (p.Tyr256SerfsTer6)	dbSNP
17	g.80107629_80107649delinsGTATATCACAGGCCTCGCCGA	CA2277812270	GAA	c.765_785delinsGTATATCACAGGCCTCGCCGA (p.Gln255=)
17	g.80107630T>A	CA401363392	GAA	c.766T>A (p.Tyr256Asn)
17	g.80107630T>C	CA401363393	GAA	c.766T>C (p.Tyr256His)	gnomAD v4
17	g.80107630T>G	CA401363395	GAA	c.766T>G (p.Tyr256Asp)
17	g.80107630T=	CA2277812272	GAA	c.766T= (p.Tyr256=)
17	g.80107630_80107634del	CA986723296	GAA	c.766_770del (p.Tyr256HisfsTer?)	dbSNP gnomAD v3 gnomAD v4
17	g.80107630_80107649delinsC	CA274073	GAA	c.766_785delinsC (p.Tyr256ArgfsTer6)	ClinVar dbSNP
17	g.80107630_80107631insC	CA658824780	GAA	c.766_767insC (p.Tyr256SerfsTer?)	ClinVar dbSNP gnomAD v4
17	g.80107631A=	CA2277812273	GAA	c.767A= (p.Tyr256=)
17	g.80107631A>C	CA401363398	GAA	c.767A>C (p.Tyr256Ser)
17	g.80107631A>G	CA8815011	GAA	c.767A>G (p.Tyr256Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107631A>T	CA401363400	GAA	c.767A>T (p.Tyr256Phe)
17	g.80107631dup	CA913014092	GAA	c.767dup (p.Tyr256Ter)
17	g.80107632T>A	CA401363402	GAA	c.768T>A (p.Tyr256Ter)
17	g.80107632T>C	CA502402645	GAA	c.768T>C (p.Tyr256=)	dbSNP gnomAD v3 gnomAD v4
17	g.80107632T>G	CA401363403	GAA	c.768T>G (p.Tyr256Ter)	COSMIC
17	g.80107632T=	CA2277812274	GAA	c.768T= (p.Tyr256=)
17	g.80107632dup	CA502402648	GAA	c.768dup (p.Ile257TyrfsTer?)	ClinVar dbSNP
17	g.80107633A=	CA2277812275	GAA	c.769A= (p.Ile257=)
17	g.80107633A>C	CA401363404	GAA	c.769A>C (p.Ile257Leu)
17	g.80107633A>G	CA8815012	GAA	c.769A>G (p.Ile257Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107633A>T	CA401363407	GAA	c.769A>T (p.Ile257Phe)	gnomAD v4
17	g.80107634T>A	CA401363409	GAA	c.770T>A (p.Ile257Asn)
17	g.80107634T>C	CA401363412	GAA	c.770T>C (p.Ile257Thr)
17	g.80107634T>G	CA401363410	GAA	c.770T>G (p.Ile257Ser)
17	g.80107635C>A	CA502402652	GAA	c.771C>A (p.Ile257=)
17	g.80107635C>G	CA401363414	GAA	c.771C>G (p.Ile257Met)
17	g.80107635C>T	CA502402651	GAA	c.771C>T (p.Ile257=)
17	g.80107636A>C	CA401363416	GAA	c.772A>C (p.Thr258Pro)
17	g.80107636A>G	CA401363417	GAA	c.772A>G (p.Thr258Ala)
17	g.80107636A>T	CA401363419	GAA	c.772A>T (p.Thr258Ser)
17	g.80107636_80107649del	CA986723305	GAA	c.772_785del (p.Thr258AlafsTer?)	gnomAD v3 gnomAD v4
17	g.80107637C>A	CA401363421	GAA	c.773C>A (p.Thr258Lys)
17	g.80107637C=	CA2277812276	GAA	c.773C= (p.Thr258=)
17	g.80107637C>G	CA401363422	GAA	c.773C>G (p.Thr258Arg)	ClinVar dbSNP
17	g.80107637C>T	CA401363423	GAA	c.773C>T (p.Thr258Ile)	dbSNP gnomAD v2 gnomAD v4
17	g.80107638A=	CA2277812277	GAA	c.774A= (p.Thr258=)
17	g.80107638A>C	CA8815013	GAA	c.774A>C (p.Thr258=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107638A>G	CA8815014	GAA	c.774A>G (p.Thr258=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107638A>T	CA502402658	GAA	c.774A>T (p.Thr258=)	gnomAD v4
17	g.80107639G>A	CA401363432	GAA	c.775G>A (p.Gly259Ser)	ClinVar dbSNP
17	g.80107639G>C	CA401363430	GAA	c.775G>C (p.Gly259Arg)
17	g.80107639G>T	CA401363428	GAA	c.775G>T (p.Gly259Cys)
17	g.80107640G>A	CA401363434	GAA	c.776G>A (p.Gly259Asp)
17	g.80107640G>C	CA401363436	GAA	c.776G>C (p.Gly259Ala)
17	g.80107640G>T	CA401363437	GAA	c.776G>T (p.Gly259Val)
17	g.80107641C>A	CA502402660	GAA	c.777C>A (p.Gly259=)
17	g.80107641C=	CA2277812278	GAA	c.777C= (p.Gly259=)
17	g.80107641C>G	CA502402661	GAA	c.777C>G (p.Gly259=)	ClinVar
17	g.80107641C>T	CA502402662	GAA	c.777C>T (p.Gly259=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80107642C>A	CA401363438	GAA	c.778C>A (p.Leu260Ile)
17	g.80107642C>G	CA401363440	GAA	c.778C>G (p.Leu260Val)
17	g.80107642C>T	CA401363441	GAA	c.778C>T (p.Leu260Phe)
17	g.80107643T>A	CA401363443	GAA	c.779T>A (p.Leu260His)
17	g.80107643T>C	CA401363445	GAA	c.779T>C (p.Leu260Pro)
17	g.80107643T>G	CA401363447	GAA	c.779T>G (p.Leu260Arg)
17	g.80107644C>A	CA502402666	GAA	c.780C>A (p.Leu260=)
17	g.80107644C=	CA2277812279	GAA	c.780C= (p.Leu260=)
17	g.80107644C>G	CA502402667	GAA	c.780C>G (p.Leu260=)
17	g.80107644C>T	CA8815015	GAA	c.780C>T (p.Leu260=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107645G>A	CA8815016	GAA	c.781G>A (p.Ala261Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107645G>C	CA401363450	GAA	c.781G>C (p.Ala261Pro)	ClinVar dbSNP gnomAD v4
17	g.80107645G=	CA2277812280	GAA	c.781G= (p.Ala261=)
17	g.80107645G>T	CA401363452	GAA	c.781G>T (p.Ala261Ser)	gnomAD v4
17	g.80107646C>A	CA401363454	GAA	c.782C>A (p.Ala261Asp)
17	g.80107646C>G	CA401363458	GAA	c.782C>G (p.Ala261Gly)
17	g.80107646C>T	CA401363456	GAA	c.782C>T (p.Ala261Val)	ClinVar dbSNP
17	g.80107647C>A	CA502402669	GAA	c.783C>A (p.Ala261=)	ClinVar dbSNP
17	g.80107647C=	CA2277812281	GAA	c.783C= (p.Ala261=)
17	g.80107647C>G	CA502402671	GAA	c.783C>G (p.Ala261=)
17	g.80107647C>T	CA8815017	GAA	c.783C>T (p.Ala261=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80107648del	CA2640279548	GAA	c.784del (p.Glu262SerfsTer6)	gnomAD v4
17	g.80107648G>A	CA273984	GAA	c.784G>A (p.Glu262Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107648G>C	CA401363459	GAA	c.784G>C (p.Glu262Gln)	gnomAD v4
17	g.80107648G=	CA2277812282	GAA	c.784G= (p.Glu262=)
17	g.80107648G>T	CA401363462	GAA	c.784G>T (p.Glu262Ter)
17	g.80107649A=	CA2277812283	GAA	c.785A= (p.Glu262=)
17	g.80107649A>C	CA401363464	GAA	c.785A>C (p.Glu262Ala)	dbSNP
17	g.80107649A>G	CA401363465	GAA	c.785A>G (p.Glu262Gly)
17	g.80107649A>T	CA401363467	GAA	c.785A>T (p.Glu262Val)
17	g.80107650G>A	CA502402673	GAA	c.786G>A (p.Glu262=)	ClinVar gnomAD v4
17	g.80107650G>C	CA401363470	GAA	c.786G>C (p.Glu262Asp)
17	g.80107650G>T	CA401363472	GAA	c.786G>T (p.Glu262Asp)
17	g.80107651C>A	CA401363477	GAA	c.787C>A (p.His263Asn)
17	g.80107651C=	CA2277812284	GAA	c.787C= (p.His263=)
17	g.80107651C>G	CA401363476	GAA	c.787C>G (p.His263Asp)
17	g.80107651C>T	CA401363475	GAA	c.787C>T (p.His263Tyr)	ClinVar dbSNP
17	g.80107652A=	CA2277812285	GAA	c.788A= (p.His263=)
17	g.80107652A>C	CA401363478	GAA	c.788A>C (p.His263Pro)
17	g.80107652A>G	CA8815018	GAA	c.788A>G (p.His263Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107652A>T	CA401363479	GAA	c.788A>T (p.His263Leu)
17	g.80107653C>A	CA401363480	GAA	c.789C>A (p.His263Gln)
17	g.80107653C=	CA2277812286	GAA	c.789C= (p.His263=)
17	g.80107653C>G	CA401363481	GAA	c.789C>G (p.His263Gln)
17	g.80107653C>T	CA502402675	GAA	c.789C>T (p.His263=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80107654C>A	CA401363482	GAA	c.790C>A (p.Leu264Ile)
17	g.80107654C=	CA2277812287	GAA	c.790C= (p.Leu264=)
17	g.80107654C>G	CA401363483	GAA	c.790C>G (p.Leu264Val)
17	g.80107654C>T	CA294889693	GAA	c.790C>T (p.Leu264Phe)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80107655T>A	CA401363484	GAA	c.791T>A (p.Leu264His)
17	g.80107655T>C	CA401363485	GAA	c.791T>C (p.Leu264Pro)
17	g.80107655T>G	CA401363486	GAA	c.791T>G (p.Leu264Arg)
17	g.80107656C>A	CA502402678	GAA	c.792C>A (p.Leu264=)
17	g.80107656C>G	CA502402677	GAA	c.792C>G (p.Leu264=)	ClinVar dbSNP
17	g.80107656C>T	CA502402676	GAA	c.792C>T (p.Leu264=)	ClinVar
17	g.80107657A=	CA2277812288	GAA	c.793A= (p.Ser265=)
17	g.80107657A>C	CA401363487	GAA	c.793A>C (p.Ser265Arg)
17	g.80107657A>G	CA401363488	GAA	c.793A>G (p.Ser265Gly)
17	g.80107657A>T	CA401363489	GAA	c.793A>T (p.Ser265Cys)	dbSNP gnomAD v3 gnomAD v4
17	g.80107658del	CA658795237	GAA	c.794del (p.Ser265IlefsTer3)
17	g.80107658G>A	CA8815019	GAA	c.794G>A (p.Ser265Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107658G>C	CA401363490	GAA	c.794G>C (p.Ser265Thr)
17	g.80107658G=	CA2277812289	GAA	c.794G= (p.Ser265=)
17	g.80107658G>T	CA401363491	GAA	c.794G>T (p.Ser265Ile)
17	g.80107659T>A	CA8815020	GAA	c.795T>A (p.Ser265Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107659T>C	CA502402679	GAA	c.795T>C (p.Ser265=)
17	g.80107659T>G	CA401363492	GAA	c.795T>G (p.Ser265Arg)
17	g.80107659T=	CA2277812290	GAA	c.795T= (p.Ser265=)
17	g.80107660C>A	CA401363493	GAA	c.796C>A (p.Pro266Thr)	ClinVar dbSNP
17	g.80107660C=	CA2277812291	GAA	c.796C= (p.Pro266=)
17	g.80107660C>G	CA401363494	GAA	c.796C>G (p.Pro266Ala)
17	g.80107660C>T	CA401363495	GAA	c.796C>T (p.Pro266Ser)	ClinVar dbSNP gnomAD v4
17	g.80107661C>A	CA401363496	GAA	c.797C>A (p.Pro266His)
17	g.80107661C=	CA2277812292	GAA	c.797C= (p.Pro266=)
17	g.80107661C>G	CA401363497	GAA	c.797C>G (p.Pro266Arg)
17	g.80107661C>T	CA401363498	GAA	c.797C>T (p.Pro266Leu)	ClinVar dbSNP gnomAD v4
17	g.80107662C>A	CA502402680	GAA	c.798C>A (p.Pro266=)
17	g.80107662C=	CA2277812293	GAA	c.798C= (p.Pro266=)
17	g.80107662C>G	CA502402682	GAA	c.798C>G (p.Pro266=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80107662C>T	CA502402681	GAA	c.798C>T (p.Pro266=)
17	g.80107662_80107665delinsCCTG	CA2277812294	GAA	c.798_801delinsCCTG (p.Pro266=)
17	g.80107662_80107666delinsCCTGA	CA2277812295	GAA	c.798_802delinsCCTGA (p.Pro266=)
17	g.80107662_80107667delinsCCTGAT	CA2277812296	GAA	c.798_803delinsCCTGAT (p.Pro266=)
17	g.80107663C>A	CA401363499	GAA	c.799C>A (p.Leu267Met)
17	g.80107663C>G	CA401363500	GAA	c.799C>G (p.Leu267Val)
17	g.80107663C>T	CA502402683	GAA	c.799C>T (p.Leu267=)
17	g.80107663_80107665del	CA986723335	GAA	c.799_801del (p.Leu267del)	dbSNP gnomAD v3 gnomAD v4
17	g.80107663_80107666del	CA2277812297	GAA	c.799_802del (p.Leu267CysfsTer?)	dbSNP
17	g.80107663_80107667delinsA	CA891862613	GAA	c.799_803delinsA (p.Leu267SerfsTer?)	ClinVar dbSNP
17	g.80107664del	CA2640279626	GAA	c.800del (p.Leu267ArgfsTer?)	gnomAD v4
17	g.80107664T>A	CA401363503	GAA	c.800T>A (p.Leu267Gln)
17	g.80107664T>C	CA401363502	GAA	c.800T>C (p.Leu267Pro)
17	g.80107664T>G	CA401363501	GAA	c.800T>G (p.Leu267Arg)
17	g.80107665G>A	CA502402684	GAA	c.801G>A (p.Leu267=)	dbSNP gnomAD v3 gnomAD v4
17	g.80107665G>C	CA502402685	GAA	c.801G>C (p.Leu267=)
17	g.80107665G=	CA2277812298	GAA	c.801G= (p.Leu267=)
17	g.80107665G>T	CA502402686	GAA	c.801G>T (p.Leu267=)
17	g.80107666A>C	CA401363504	GAA	c.802A>C (p.Met268Leu)
17	g.80107666A>G	CA401363505	GAA	c.802A>G (p.Met268Val)	gnomAD v4
17	g.80107666A>T	CA401363506	GAA	c.802A>T (p.Met268Leu)
17	g.80107666_80107667delinsAT	CA2277812299	GAA	c.802_803delinsAT (p.Met268=)
17	g.80107667del	CA986723336	GAA	c.803del (p.Met268SerfsTer?)	dbSNP gnomAD v3 gnomAD v4
17	g.80107667T>A	CA401363507	GAA	c.803T>A (p.Met268Lys)	dbSNP gnomAD v4
17	g.80107667T>C	CA401363508	GAA	c.803T>C (p.Met268Thr)
17	g.80107667T>G	CA401363509	GAA	c.803T>G (p.Met268Arg)
17	g.80107667T=	CA2277812300	GAA	c.803T= (p.Met268=)
17	g.80107668G>A	CA401363510	GAA	c.804G>A (p.Met268Ile)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80107668G>C	CA401363511	GAA	c.804G>C (p.Met268Ile)	ClinVar
17	g.80107668G=	CA2277812301	GAA	c.804G= (p.Met268=)
17	g.80107668G>T	CA401363512	GAA	c.804G>T (p.Met268Ile)	dbSNP gnomAD v2 gnomAD v4
17	g.80107668_80107693delinsGCTCAGCACCAGCTGGACCAGGATCA	CA2277812302	GAA	c.804_829delinsGCTCAGCACCAGCTGGACCAGGATCA (p.Met268=)
17	g.80107669C>A	CA401363513	GAA	c.805C>A (p.Leu269Ile)
17	g.80107669C>G	CA401363514	GAA	c.805C>G (p.Leu269Val)
17	g.80107669C>T	CA401363515	GAA	c.805C>T (p.Leu269Phe)	gnomAD v4
17	g.80107670_80107694del	CA915952247	GAA	c.806_830del (p.Leu269ProfsTer?)	ClinVar dbSNP
17	g.80107670T>A	CA401363518	GAA	c.806T>A (p.Leu269His)
17	g.80107670T>C	CA401363516	GAA	c.806T>C (p.Leu269Pro)	ClinVar dbSNP
17	g.80107670T>G	CA401363517	GAA	c.806T>G (p.Leu269Arg)
17	g.80107670T=	CA2277812303	GAA	c.806T= (p.Leu269=)
17	g.80107671C>A	CA502402688	GAA	c.807C>A (p.Leu269=)
17	g.80107671C>G	CA502402689	GAA	c.807C>G (p.Leu269=)	ClinVar
17	g.80107671C>T	CA502402690	GAA	c.807C>T (p.Leu269=)
17	g.80107672A=	CA2277812304	GAA	c.808A= (p.Ser270=)
17	g.80107672A>C	CA401363519	GAA	c.808A>C (p.Ser270Arg)
17	g.80107672A>G	CA401363521	GAA	c.808A>G (p.Ser270Gly)	dbSNP gnomAD v2 gnomAD v4
17	g.80107672A>T	CA401363523	GAA	c.808A>T (p.Ser270Cys)
17	g.80107673G>A	CA401363525	GAA	c.809G>A (p.Ser270Asn)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80107673G>C	CA401363526	GAA	c.809G>C (p.Ser270Thr)
17	g.80107673G=	CA2277812305	GAA	c.809G= (p.Ser270=)
17	g.80107673G>T	CA401363528	GAA	c.809G>T (p.Ser270Ile)
17	g.80107674C>A	CA401363530	GAA	c.810C>A (p.Ser270Arg)
17	g.80107674C=	CA2277812306	GAA	c.810C= (p.Ser270=)
17	g.80107674C>G	CA401363532	GAA	c.810C>G (p.Ser270Arg)
17	g.80107674C>T	CA502402693	GAA	c.810C>T (p.Ser270=)	dbSNP gnomAD v4
17	g.80107675A>C	CA401363534	GAA	c.811A>C (p.Thr271Pro)
17	g.80107675A>G	CA401363536	GAA	c.811A>G (p.Thr271Ala)
17	g.80107675A>T	CA401363538	GAA	c.811A>T (p.Thr271Ser)
17	g.80107676C>A	CA401363544	GAA	c.812C>A (p.Thr271Asn)	dbSNP
17	g.80107676C=	CA2277812307	GAA	c.812C= (p.Thr271=)
17	g.80107676C>G	CA401363542	GAA	c.812C>G (p.Thr271Ser)	gnomAD v4
17	g.80107676C>T	CA401363540	GAA	c.812C>T (p.Thr271Ile)	dbSNP gnomAD v4
17	g.80107677C>A	CA502402694	GAA	c.813C>A (p.Thr271=)
17	g.80107677C=	CA2277812308	GAA	c.813C= (p.Thr271=)
17	g.80107677C>G	CA502402695	GAA	c.813C>G (p.Thr271=)
17	g.80107677C>T	CA502402696	GAA	c.813C>T (p.Thr271=)	dbSNP gnomAD v2
17	g.80107678A>C	CA401363547	GAA	c.814A>C (p.Ser272Arg)
17	g.80107678A>G	CA401363545	GAA	c.814A>G (p.Ser272Gly)
17	g.80107678A>T	CA401363548	GAA	c.814A>T (p.Ser272Cys)
17	g.80107679G>A	CA401363550	GAA	c.815G>A (p.Ser272Asn)
17	g.80107679G>C	CA401363553	GAA	c.815G>C (p.Ser272Thr)
17	g.80107679G>T	CA401363555	GAA	c.815G>T (p.Ser272Ile)
17	g.80107680C>A	CA401363556	GAA	c.816C>A (p.Ser272Arg)
17	g.80107680C=	CA2277812309	GAA	c.816C= (p.Ser272=)
17	g.80107680C>G	CA401363558	GAA	c.816C>G (p.Ser272Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80107680C>T	CA502402697	GAA	c.816C>T (p.Ser272=)	ClinVar dbSNP
17	g.80107681T>A	CA401363559	GAA	c.817T>A (p.Trp273Arg)
17	g.80107681T>C	CA401363561	GAA	c.817T>C (p.Trp273Arg)
17	g.80107681T>G	CA401363563	GAA	c.817T>G (p.Trp273Gly)
17	g.80107682G>A	CA8815021	GAA	c.818G>A (p.Trp273Ter)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107682G>C	CA401363565	GAA	c.818G>C (p.Trp273Ser)
17	g.80107682G=	CA2277812310	GAA	c.818G= (p.Trp273=)
17	g.80107682G>T	CA401363567	GAA	c.818G>T (p.Trp273Leu)	dbSNP gnomAD v4
17	g.80107683G>A	CA401363572	GAA	c.819G>A (p.Trp273Ter)
17	g.80107683G>C	CA401363569	GAA	c.819G>C (p.Trp273Cys)
17	g.80107683G>T	CA401363570	GAA	c.819G>T (p.Trp273Cys)
17	g.80107684A>C	CA401363574	GAA	c.820A>C (p.Thr274Pro)
17	g.80107684A>G	CA401363576	GAA	c.820A>G (p.Thr274Ala)
17	g.80107684A>T	CA401363577	GAA	c.820A>T (p.Thr274Ser)
17	g.80107685C>A	CA401363578	GAA	c.821C>A (p.Thr274Asn)
17	g.80107685C=	CA2277812311	GAA	c.821C= (p.Thr274=)
17	g.80107685C>G	CA401363580	GAA	c.821C>G (p.Thr274Ser)
17	g.80107685C>T	CA8815022	GAA	c.821C>T (p.Thr274Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107686C>A	CA502402698	GAA	c.822C>A (p.Thr274=)
17	g.80107686C>G	CA502402699	GAA	c.822C>G (p.Thr274=)
17	g.80107686C>T	CA502402700	GAA	c.822C>T (p.Thr274=)	ClinVar
17	g.80107687A>C	CA502402701	GAA	c.823A>C (p.Arg275=)
17	g.80107687A>G	CA401363583	GAA	c.823A>G (p.Arg275Gly)	gnomAD v4
17	g.80107687A>T	CA401363585	GAA	c.823A>T (p.Arg275Trp)
17	g.80107688G>A	CA401363587	GAA	c.824G>A (p.Arg275Lys)
17	g.80107688G>C	CA401363589	GAA	c.824G>C (p.Arg275Thr)	gnomAD v4
17	g.80107688G>T	CA401363590	GAA	c.824G>T (p.Arg275Met)
17	g.80107691_80107709del	CA658795238	GAA	c.827_845del (p.Ile276ThrfsTer?)	ClinVar dbSNP
17	g.80107689G>A	CA502402702	GAA	c.825G>A (p.Arg275=)
17	g.80107689G>C	CA401363591	GAA	c.825G>C (p.Arg275Ser)
17	g.80107689G>T	CA401363594	GAA	c.825G>T (p.Arg275Ser)
17	g.80107689_80107690del	CA2576413979	GAA	c.825_826del (p.Arg275SerfsTer?)
17	g.80107690A=	CA2277812312	GAA	c.826A= (p.Ile276=)
17	g.80107690A>C	CA401363596	GAA	c.826A>C (p.Ile276Leu)
17	g.80107690A>G	CA401363598	GAA	c.826A>G (p.Ile276Val)	ClinVar dbSNP gnomAD v4
17	g.80107690A>T	CA401363599	GAA	c.826A>T (p.Ile276Phe)	dbSNP gnomAD v2 gnomAD v4
17	g.80107691T>A	CA401363601	GAA	c.827T>A (p.Ile276Asn)
17	g.80107691T>C	CA401363603	GAA	c.827T>C (p.Ile276Thr)
17	g.80107691T>G	CA401363605	GAA	c.827T>G (p.Ile276Ser)
17	g.80107692C>A	CA502402703	GAA	c.828C>A (p.Ile276=)	dbSNP gnomAD v2 gnomAD v4
17	g.80107692C=	CA2277812313	GAA	c.828C= (p.Ile276=)
17	g.80107692C>G	CA401363607	GAA	c.828C>G (p.Ile276Met)
17	g.80107692C>T	CA502402704	GAA	c.828C>T (p.Ile276=)
17	g.80107693_80107694del	CA2580095271	GAA	c.829_830del (p.Thr277ProfsTer?)	ClinVar
17	g.80107693_80107715del	CA658795239	GAA	c.829_851del (p.Thr277AlafsTer?)
17	g.80107693del	CA2576413980	GAA	c.829del (p.Thr277ProfsTer?)
17	g.80107693A=	CA2277812314	GAA	c.829A= (p.Thr277=)
17	g.80107693A>C	CA401363609	GAA	c.829A>C (p.Thr277Pro)	dbSNP
17	g.80107693A>G	CA401363611	GAA	c.829A>G (p.Thr277Ala)	ClinVar
17	g.80107693A>T	CA401363613	GAA	c.829A>T (p.Thr277Ser)
17	g.80107694C>A	CA401363619	GAA	c.830C>A (p.Thr277Asn)
17	g.80107694C=	CA2277812315	GAA	c.830C= (p.Thr277=)
17	g.80107694C>G	CA401363617	GAA	c.830C>G (p.Thr277Ser)
17	g.80107694C>T	CA401363615	GAA	c.830C>T (p.Thr277Ile)	ClinVar dbSNP
17	g.80107696del	CA2695227071	GAA	c.832del (p.Leu278CysfsTer?)
17	g.80107695C>A	CA502402705	GAA	c.831C>A (p.Thr277=)
17	g.80107695C=	CA2277812316	GAA	c.831C= (p.Thr277=)
17	g.80107695C>G	CA294889703	GAA	c.831C>G (p.Thr277=)	dbSNP
17	g.80107695C>T	CA502402706	GAA	c.831C>T (p.Thr277=)
17	g.80107696C>A	CA401363621	GAA	c.832C>A (p.Leu278Met)
17	g.80107696C=	CA2277812317	GAA	c.832C= (p.Leu278=)
17	g.80107696C>G	CA401363622	GAA	c.832C>G (p.Leu278Val)
17	g.80107696C>T	CA502402707	GAA	c.832C>T (p.Leu278=)	dbSNP
17	g.80107696_80107697del	CA913184772	GAA	c.832_833del (p.Leu278ValfsTer?)
17	g.80107697T>A	CA401363625	GAA	c.833T>A (p.Leu278Gln)
17	g.80107697T>C	CA401363626	GAA	c.833T>C (p.Leu278Pro)
17	g.80107697T>G	CA401363628	GAA	c.833T>G (p.Leu278Arg)
17	g.80107698G>A	CA8815023	GAA	c.834G>A (p.Leu278=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107698G>C	CA502402708	GAA	c.834G>C (p.Leu278=)
17	g.80107698G=	CA2277812318	GAA	c.834G= (p.Leu278=)
17	g.80107698G>T	CA502402709	GAA	c.834G>T (p.Leu278=)
17	g.80107699T>A	CA401363631	GAA	c.835T>A (p.Trp279Arg)
17	g.80107699T>C	CA401363632	GAA	c.835T>C (p.Trp279Arg)
17	g.80107699T>G	CA401363635	GAA	c.835T>G (p.Trp279Gly)
17	g.80107700G>A	CA401363637	GAA	c.836G>A (p.Trp279Ter)	ClinVar dbSNP
17	g.80107700G>C	CA401363638	GAA	c.836G>C (p.Trp279Ser)
17	g.80107700G=	CA2277812319	GAA	c.836G= (p.Trp279=)
17	g.80107700G>T	CA401363640	GAA	c.836G>T (p.Trp279Leu)
17	g.80107701G>A	CA401363645	GAA	c.837G>A (p.Trp279Ter)
17	g.80107701G>C	CA401363644	GAA	c.837G>C (p.Trp279Cys)	dbSNP gnomAD v2
17	g.80107701G=	CA2277812320	GAA	c.837G= (p.Trp279=)
17	g.80107701G>T	CA401363642	GAA	c.837G>T (p.Trp279Cys)	ClinVar
17	g.80107702A>C	CA401363649	GAA	c.838A>C (p.Asn280His)
17	g.80107702A>G	CA401363647	GAA	c.838A>G (p.Asn280Asp)
17	g.80107702A>T	CA401363651	GAA	c.838A>T (p.Asn280Tyr)
17	g.80107703A=	CA2277812321	GAA	c.839A= (p.Asn280=)
17	g.80107703A>C	CA401363653	GAA	c.839A>C (p.Asn280Thr)
17	g.80107703A>G	CA401363655	GAA	c.839A>G (p.Asn280Ser)
17	g.80107703A>T	CA401363657	GAA	c.839A>T (p.Asn280Ile)
17	g.80107704C>A	CA401363659	GAA	c.840C>A (p.Asn280Lys)
17	g.80107704C=	CA2277812322	GAA	c.840C= (p.Asn280=)
17	g.80107704C>G	CA8815024	GAA	c.840C>G (p.Asn280Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107704C>T	CA502402710	GAA	c.840C>T (p.Asn280=)
17	g.80107704_80107706dup	CA658683065	GAA	c.840_842dup (p.Arg281_Asp282insArg)	ClinVar dbSNP
17	g.80107705C>A	CA502402711	GAA	c.841C>A (p.Arg281=)	ClinVar
17	g.80107705C=	CA2277812323	GAA	c.841C= (p.Arg281=)
17	g.80107705C>G	CA401363661	GAA	c.841C>G (p.Arg281Gly)
17	g.80107705C>T	CA8815025	GAA	c.841C>T (p.Arg281Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107706G>A	CA8815026	GAA	c.842G>A (p.Arg281Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107706G>C	CA401363665	GAA	c.842G>C (p.Arg281Pro)
17	g.80107706G=	CA2277812324	GAA	c.842G= (p.Arg281=)
17	g.80107706G>T	CA401363667	GAA	c.842G>T (p.Arg281Leu)
17	g.80107707G>A	CA502402712	GAA	c.843G>A (p.Arg281=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107707G>C	CA502402713	GAA	c.843G>C (p.Arg281=)
17	g.80107707G=	CA2277812325	GAA	c.843G= (p.Arg281=)
17	g.80107707G>T	CA502402714	GAA	c.843G>T (p.Arg281=)	gnomAD v4
17	g.80107708G>A	CA401363673	GAA	c.844G>A (p.Asp282Asn)	dbSNP gnomAD v2 gnomAD v4
17	g.80107708G>C	CA401363671	GAA	c.844G>C (p.Asp282His)	ClinVar
17	g.80107708G=	CA2277812326	GAA	c.844G= (p.Asp282=)
17	g.80107708G>T	CA401363669	GAA	c.844G>T (p.Asp282Tyr)	gnomAD v4
17	g.80107709A>C	CA401363674	GAA	c.845A>C (p.Asp282Ala)
17	g.80107709A>G	CA401363675	GAA	c.845A>G (p.Asp282Gly)
17	g.80107709A>T	CA401363678	GAA	c.845A>T (p.Asp282Val)
17	g.80107710C>A	CA401363680	GAA	c.846C>A (p.Asp282Glu)
17	g.80107710C=	CA2277812327	GAA	c.846C= (p.Asp282=)
17	g.80107710C>G	CA401363682	GAA	c.846C>G (p.Asp282Glu)
17	g.80107710C>T	CA294889707	GAA	c.846C>T (p.Asp282=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80107711C>A	CA401363684	GAA	c.847C>A (p.Leu283Ile)
17	g.80107711C>G	CA401363686	GAA	c.847C>G (p.Leu283Val)
17	g.80107711C>T	CA401363688	GAA	c.847C>T (p.Leu283Phe)	gnomAD v4
17	g.80107712T>A	CA401363689	GAA	c.848T>A (p.Leu283His)
17	g.80107712T>C	CA401363691	GAA	c.848T>C (p.Leu283Pro)
17	g.80107712T>G	CA401363693	GAA	c.848T>G (p.Leu283Arg)

Number of alleles fetched