Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80104734_80107789del	CA658795223	GAA	c.148_859-11del	ClinVar
17	g.80105817G>A	CA243111	GAA	c.615G>A (p.Pro205=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105817G>C	CA502177607	GAA	c.615G>C (p.Pro205=)
17	g.80105817G=	CA2277811255	GAA	c.615G= (p.Pro205=)
17	g.80105817G>T	CA502177608	GAA	c.615G>T (p.Pro205=)
17	g.80105818T>A	CA401362302	GAA	c.616T>A (p.Ser206Thr)
17	g.80105818T>C	CA401362303	GAA	c.616T>C (p.Ser206Pro)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80105818T>G	CA401362305	GAA	c.616T>G (p.Ser206Ala)
17	g.80105818T=	CA2277811256	GAA	c.616T= (p.Ser206=)
17	g.80105819C>A	CA401362306	GAA	c.617C>A (p.Ser206Tyr)	gnomAD v4
17	g.80105819C=	CA2277811257	GAA	c.617C= (p.Ser206=)
17	g.80105819C>G	CA8814944	GAA	c.617C>G (p.Ser206Cys)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80105819C>T	CA401362308	GAA	c.617C>T (p.Ser206Phe)
17	g.80105822del	CA2640277882	GAA	c.620del (p.Pro207HisfsTer14) c.620del (p.Pro207HisfsTer?)	gnomAD v4
17	g.80105820C>A	CA502177628	GAA	c.618C>A (p.Ser206=)	ClinVar dbSNP
17	g.80105820C=	CA2277811258	GAA	c.618C= (p.Ser206=)
17	g.80105820C>G	CA502177629	GAA	c.618C>G (p.Ser206=)	ClinVar dbSNP
17	g.80105820C>T	CA8814945	GAA	c.618C>T (p.Ser206=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105821C>A	CA401362351	GAA	c.619C>A (p.Pro207Thr)
17	g.80105821C>G	CA401362352	GAA	c.619C>G (p.Pro207Ala)
17	g.80105821C>T	CA401362353	GAA	c.619C>T (p.Pro207Ser)	ClinVar gnomAD v4
17	g.80105822C>A	CA401362354	GAA	c.620C>A (p.Pro207Gln)
17	g.80105822C>G	CA401362355	GAA	c.620C>G (p.Pro207Arg)
17	g.80105822C>T	CA401362356	GAA	c.620C>T (p.Pro207Leu)
17	g.80105823A=	CA2277811259	GAA	c.621A= (p.Pro207=)
17	g.80105823A>C	CA502177630	GAA	c.621A>C (p.Pro207=)	ClinVar
17	g.80105823A>G	CA8814946	GAA	c.621A>G (p.Pro207=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105823A>T	CA502177631	GAA	c.621A>T (p.Pro207=)
17	g.80105824C>A	CA401362357	GAA	c.622C>A (p.Leu208Ile)
17	g.80105824C>G	CA401362358	GAA	c.622C>G (p.Leu208Val)
17	g.80105824C>T	CA401362359	GAA	c.622C>T (p.Leu208Phe)	gnomAD v4
17	g.80105825T>A	CA401362360	GAA	c.623T>A (p.Leu208His)
17	g.80105825T>C	CA401362361	GAA	c.623T>C (p.Leu208Pro)	ClinVar dbSNP
17	g.80105825T>G	CA401362362	GAA	c.623T>G (p.Leu208Arg)
17	g.80105825T=	CA2277811260	GAA	c.623T= (p.Leu208=)
17	g.80105826C>A	CA502177632	GAA	c.624C>A (p.Leu208=)
17	g.80105826C=	CA2277811261	GAA	c.624C= (p.Leu208=)
17	g.80105826C>G	CA502177633	GAA	c.624C>G (p.Leu208=)	ClinVar dbSNP gnomAD v4
17	g.80105826C>T	CA502177634	GAA	c.624C>T (p.Leu208=)
17	g.80105827T>A	CA401362364	GAA	c.625T>A (p.Tyr209Asn) c.625T>A
17	g.80105827T>C	CA294888258	GAA	c.625T>C (p.Tyr209His) c.625T>C	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105827T>G	CA401362363	GAA	c.625T>G (p.Tyr209Asp) c.625T>G
17	g.80105827T=	CA2277811262	GAA	c.625T= (p.Tyr209=) c.625T=
17	g.80105827dup	CA8814947	GAA	c.625dup (p.Tyr209LeufsTer?) c.625dup	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80105828A=	CA2277811263	GAA	c.626A= (p.Tyr209=) c.626A=
17	g.80105828A>C	CA401362365	GAA	c.626A>C (p.Tyr209Ser) c.626A>C
17	g.80105828A>G	CA401362366	GAA	c.626A>G (p.Tyr209Cys) c.626A>G	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80105828A>T	CA401362367	GAA	c.626A>T (p.Tyr209Phe) c.626A>T
17	g.80105829C>A	CA401362368	GAA	c.627C>A (p.Tyr209Ter)
17	g.80105829C=	CA2277811264	GAA	c.627C= (p.Tyr209=)
17	g.80105829C>G	CA401362369	GAA	c.627C>G (p.Tyr209Ter)	gnomAD v4
17	g.80105829C>T	CA502177635	GAA	c.627C>T (p.Tyr209=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80105830A>C	CA401362372	GAA	c.628A>C (p.Ser210Arg)
17	g.80105830A>G	CA401362371	GAA	c.628A>G (p.Ser210Gly)	gnomAD v4
17	g.80105830A>T	CA401362370	GAA	c.628A>T (p.Ser210Cys)
17	g.80105831G>A	CA401362373	GAA	c.629G>A (p.Ser210Asn)
17	g.80105831G>C	CA401362374	GAA	c.629G>C (p.Ser210Thr)
17	g.80105831G>T	CA401362375	GAA	c.629G>T (p.Ser210Ile)	gnomAD v4
17	g.80105831_80105843del	CA913014086	GAA	c.629_641del (p.Ser210ThrfsTer7)
17	g.80105831_80105843delinsGCGTGGAGTTCTC	CA2277811265	GAA	c.629_641delinsGCGTGGAGTTCTC (p.Ser210=)
17	g.80105832C>A	CA401362376	GAA	c.630C>A (p.Ser210Arg)
17	g.80105832C=	CA2277811266	GAA	c.630C= (p.Ser210=)
17	g.80105832C>G	CA401362377	GAA	c.630C>G (p.Ser210Arg)
17	g.80105832C>T	CA8814948	GAA	c.630C>T (p.Ser210=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105834_80105845del	CA658824777	GAA	c.632_643del (p.Val211_Ser214del)	ClinVar dbSNP
17	g.80105833G>A	CA8814949	GAA	c.631G>A (p.Val211Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105833G>C	CA401362379	GAA	c.631G>C (p.Val211Leu)
17	g.80105833G=	CA2277811267	GAA	c.631G= (p.Val211=)
17	g.80105833G>T	CA401362378	GAA	c.631G>T (p.Val211Leu)
17	g.80105834T>A	CA401362380	GAA	c.632T>A (p.Val211Glu)
17	g.80105834T>C	CA401362381	GAA	c.632T>C (p.Val211Ala)	gnomAD v4
17	g.80105834T>G	CA401362382	GAA	c.632T>G (p.Val211Gly)
17	g.80105835G>A	CA502177636	GAA	c.633G>A (p.Val211=)	ClinVar dbSNP gnomAD v4
17	g.80105835G>C	CA502177637	GAA	c.633G>C (p.Val211=)
17	g.80105835G>T	CA502177638	GAA	c.633G>T (p.Val211=)	gnomAD v4
17	g.80105836del	CA2576660876	GAA	c.634del (p.Glu212SerfsTer9)
17	g.80105836G>A	CA8814950	GAA	c.634G>A (p.Glu212Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105836G>C	CA401362383	GAA	c.634G>C (p.Glu212Gln)
17	g.80105836G=	CA2277811268	GAA	c.634G= (p.Glu212=)
17	g.80105836G>T	CA401362384	GAA	c.634G>T (p.Glu212Ter)
17	g.80105837A>C	CA401362385	GAA	c.635A>C (p.Glu212Ala)
17	g.80105837A>G	CA401362386	GAA	c.635A>G (p.Glu212Gly)
17	g.80105837A>T	CA401362387	GAA	c.635A>T (p.Glu212Val)
17	g.80105838G>A	CA502177639	GAA	c.636G>A (p.Glu212=)	gnomAD v4
17	g.80105838G>C	CA401362388	GAA	c.636G>C (p.Glu212Asp)
17	g.80105838G=	CA2277811269	GAA	c.636G= (p.Glu212=)
17	g.80105838G>T	CA401362389	GAA	c.636G>T (p.Glu212Asp)	dbSNP gnomAD v4
17	g.80105839T>A	CA401362390	GAA	c.637T>A (p.Phe213Ile)
17	g.80105839T>C	CA401362392	GAA	c.637T>C (p.Phe213Leu)	ClinVar
17	g.80105839T>G	CA401362391	GAA	c.637T>G (p.Phe213Val)
17	g.80105840T>A	CA401362393	GAA	c.638T>A (p.Phe213Tyr)
17	g.80105840T>C	CA401362394	GAA	c.638T>C (p.Phe213Ser)
17	g.80105840T>G	CA401362395	GAA	c.638T>G (p.Phe213Cys)
17	g.80105841del	CA2573154933	GAA	c.639del (p.Ser214ProfsTer7)	ClinVar dbSNP
17	g.80105841C>A	CA401362396	GAA	c.639C>A (p.Phe213Leu)	gnomAD v4
17	g.80105841C>G	CA401362397	GAA	c.639C>G (p.Phe213Leu)
17	g.80105841C>T	CA502177640	GAA	c.639C>T (p.Phe213=)	ClinVar dbSNP
17	g.80105842T>A	CA401362398	GAA	c.640T>A (p.Ser214Thr)
17	g.80105842T>C	CA401362399	GAA	c.640T>C (p.Ser214Pro)	gnomAD v4
17	g.80105842T>G	CA401362400	GAA	c.640T>G (p.Ser214Ala)
17	g.80105843C>A	CA401362401	GAA	c.641C>A (p.Ser214Tyr)
17	g.80105843C=	CA2277811270	GAA	c.641C= (p.Ser214=)
17	g.80105843C>G	CA401362402	GAA	c.641C>G (p.Ser214Cys)
17	g.80105843C>T	CA401362403	GAA	c.641C>T (p.Ser214Phe)	dbSNP
17	g.80105844C>A	CA8814951	GAA	c.642C>A (p.Ser214=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105844C=	CA2277811271	GAA	c.642C= (p.Ser214=)
17	g.80105844C>G	CA502177641	GAA	c.642C>G (p.Ser214=)
17	g.80105844C>T	CA145788	GAA	c.642C>T (p.Ser214=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105845G>A	CA8814952	GAA	c.643G>A (p.Glu215Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105845G>C	CA401362410	GAA	c.643G>C (p.Glu215Gln)
17	g.80105845G=	CA2277811272	GAA	c.643G= (p.Glu215=)
17	g.80105845G>T	CA401362407	GAA	c.643G>T (p.Glu215Ter)	ClinVar dbSNP gnomAD v4
17	g.80105846A>C	CA401362411	GAA	c.644A>C (p.Glu215Ala)
17	g.80105846A>G	CA401362412	GAA	c.644A>G (p.Glu215Gly)
17	g.80105846A>T	CA401362414	GAA	c.644A>T (p.Glu215Val)
17	g.80105847G>A	CA502177642	GAA	c.645G>A (p.Glu215=)
17	g.80105847G>C	CA401362416	GAA	c.645G>C (p.Glu215Asp)
17	g.80105847G>T	CA401362418	GAA	c.645G>T (p.Glu215Asp)	gnomAD v4 COSMIC
17	g.80105848G>A	CA401362419	GAA	c.646G>A (p.Glu216Lys)
17	g.80105848G>C	CA401362420	GAA	c.646G>C (p.Glu216Gln)
17	g.80105848G>T	CA401362421	GAA	c.646G>T (p.Glu216Ter)	gnomAD v4
17	g.80105849A>C	CA401362424	GAA	c.647A>C (p.Glu216Ala)
17	g.80105849A>G	CA401362426	GAA	c.647A>G (p.Glu216Gly)
17	g.80105849A>T	CA401362427	GAA	c.647A>T (p.Glu216Val)
17	g.80105850G>A	CA502177643	GAA	c.648G>A (p.Glu216=)	gnomAD v4
17	g.80105850G>C	CA401362429	GAA	c.648G>C (p.Glu216Asp)
17	g.80105850G>T	CA401362431	GAA	c.648G>T (p.Glu216Asp)	gnomAD v4
17	g.80105851C>A	CA401362433	GAA	c.649C>A (p.Pro217Thr)
17	g.80105851C=	CA2277811273	GAA	c.649C= (p.Pro217=)
17	g.80105851C>G	CA401362437	GAA	c.649C>G (p.Pro217Ala)
17	g.80105851C>T	CA401362432	GAA	c.649C>T (p.Pro217Ser)	ClinVar dbSNP
17	g.80105852C>A	CA401362438	GAA	c.650C>A (p.Pro217His)
17	g.80105852C>G	CA401362439	GAA	c.650C>G (p.Pro217Arg)	gnomAD v4
17	g.80105852C>T	CA401362440	GAA	c.650C>T (p.Pro217Leu)
17	g.80105853C>A	CA502177645	GAA	c.651C>A (p.Pro217=)	ClinVar dbSNP gnomAD v4
17	g.80105853C=	CA2277811274	GAA	c.651C= (p.Pro217=)
17	g.80105853C>G	CA502177646	GAA	c.651C>G (p.Pro217=)	dbSNP gnomAD v3 gnomAD v4
17	g.80105853C>T	CA502177644	GAA	c.651C>T (p.Pro217=)	dbSNP
17	g.80105854T>A	CA401362442	GAA	c.652T>A (p.Phe218Ile)
17	g.80105854T>C	CA401362444	GAA	c.652T>C (p.Phe218Leu)
17	g.80105854T>G	CA401362446	GAA	c.652T>G (p.Phe218Val)
17	g.80105855del	CA2640278020	GAA	c.653del (p.Phe218SerfsTer3)	gnomAD v4
17	g.80105855T>A	CA401362448	GAA	c.653T>A (p.Phe218Tyr)
17	g.80105855T>C	CA8814953	GAA	c.653T>C (p.Phe218Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80105855T>G	CA401362451	GAA	c.653T>G (p.Phe218Cys)
17	g.80105855T=	CA2277811275	GAA	c.653T= (p.Phe218=)
17	g.80105856C>A	CA401362453	GAA	c.654C>A (p.Phe218Leu)	dbSNP gnomAD v4
17	g.80105856C=	CA2277811276	GAA	c.654C= (p.Phe218=)
17	g.80105856C>G	CA401362455	GAA	c.654C>G (p.Phe218Leu)	gnomAD v4
17	g.80105856C>T	CA8814954	GAA	c.654C>T (p.Phe218=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80105857G>A	CA274334	GAA	c.655G>A (p.Gly219Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105857G>C	CA401362459	GAA	c.655G>C (p.Gly219Arg)
17	g.80105857G=	CA2277811277	GAA	c.655G= (p.Gly219=)
17	g.80105857G>T	CA401362461	GAA	c.655G>T (p.Gly219Trp)	gnomAD v4
17	g.80105860dup	CA2573154934	GAA	c.658dup (p.Val220GlyfsTer?)	ClinVar dbSNP
17	g.80105858G>A	CA401362463	GAA	c.656G>A (p.Gly219Glu)	ClinVar
17	g.80105858G>C	CA401362465	GAA	c.656G>C (p.Gly219Ala)
17	g.80105858G>T	CA401362467	GAA	c.656G>T (p.Gly219Val)	gnomAD v4
17	g.80105859G>A	CA502177647	GAA	c.657G>A (p.Gly219=)	ClinVar dbSNP
17	g.80105859G>C	CA502177648	GAA	c.657G>C (p.Gly219=)
17	g.80105859G=	CA2277811278	GAA	c.657G= (p.Gly219=)
17	g.80105859G>T	CA502177649	GAA	c.657G>T (p.Gly219=)	gnomAD v4
17	g.80105860G>A	CA401362469	GAA	c.658G>A (p.Val220Met)	gnomAD v4
17	g.80105860G>C	CA401362471	GAA	c.658G>C (p.Val220Leu)
17	g.80105860G=	CA2277811279	GAA	c.658G= (p.Val220=)
17	g.80105860G>T	CA8814955	GAA	c.658G>T (p.Val220Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105861T>A	CA401362473	GAA	c.659T>A (p.Val220Glu)	dbSNP gnomAD v2
17	g.80105861T>C	CA401362475	GAA	c.659T>C (p.Val220Ala)
17	g.80105861T>G	CA401362477	GAA	c.659T>G (p.Val220Gly)	dbSNP
17	g.80105861T=	CA2277811280	GAA	c.659T= (p.Val220=)
17	g.80105862G>A	CA502177650	GAA	c.660G>A (p.Val220=)	COSMIC
17	g.80105862G>C	CA502177651	GAA	c.660G>C (p.Val220=)	gnomAD v4
17	g.80105862G>T	CA502177652	GAA	c.660G>T (p.Val220=)	gnomAD v4
17	g.80105863A=	CA2277811281	GAA	c.661A= (p.Ile221=)
17	g.80105863A>C	CA401362479	GAA	c.661A>C (p.Ile221Leu)
17	g.80105863A>G	CA401362481	GAA	c.661A>G (p.Ile221Val)
17	g.80105863A>T	CA401362483	GAA	c.661A>T (p.Ile221Phe)	dbSNP gnomAD v4
17	g.80105864T>A	CA401362487	GAA	c.662T>A (p.Ile221Asn)
17	g.80105864T>C	CA401362489	GAA	c.662T>C (p.Ile221Thr)
17	g.80105864T>G	CA401362485	GAA	c.662T>G (p.Ile221Ser)
17	g.80105865C>A	CA502177653	GAA	c.663C>A (p.Ile221=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105865C=	CA2277811282	GAA	c.663C= (p.Ile221=)
17	g.80105865C>G	CA401362492	GAA	c.663C>G (p.Ile221Met)	ClinVar dbSNP gnomAD v4
17	g.80105865C>T	CA8814956	GAA	c.663C>T (p.Ile221=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105866del	CA2810576337	GAA	c.664del (p.Val222CysfsTer11)
17	g.80105866G>A	CA8814957	GAA	c.664G>A (p.Val222Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105866G>C	CA401362495	GAA	c.664G>C (p.Val222Leu)
17	g.80105866G=	CA2277811283	GAA	c.664G= (p.Val222=)
17	g.80105866G>T	CA401362498	GAA	c.664G>T (p.Val222Leu)
17	g.80105867T>A	CA401362499	GAA	c.665T>A (p.Val222Glu)
17	g.80105867T>C	CA401362501	GAA	c.665T>C (p.Val222Ala)
17	g.80105867T>G	CA401362502	GAA	c.665T>G (p.Val222Gly)	dbSNP gnomAD v4
17	g.80105867T=	CA2277811284	GAA	c.665T= (p.Val222=)
17	g.80105868G>A	CA502177654	GAA	c.666G>A (p.Val222=)	ClinVar gnomAD v4
17	g.80105868G>C	CA502177655	GAA	c.666G>C (p.Val222=)
17	g.80105868G>T	CA502177656	GAA	c.666G>T (p.Val222=)	gnomAD v4
17	g.80105869C>A	CA401362504	GAA	c.667C>A (p.Arg223Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.80105869C=	CA2277811285	GAA	c.667C= (p.Arg223=)
17	g.80105869C>G	CA401362506	GAA	c.667C>G (p.Arg223Gly)
17	g.80105869C>T	CA10606165	GAA	c.667C>T (p.Arg223Cys)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80105869_80105870delinsTA	CA2499224999	GAA	c.667_668delinsTA (p.Arg223Tyr)	ClinVar dbSNP
17	g.80105870G>A	CA145791	GAA	c.668G>A (p.Arg223His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105870G>C	CA401362510	GAA	c.668G>C (p.Arg223Pro)	dbSNP gnomAD v4
17	g.80105870G=	CA2277811286	GAA	c.668G= (p.Arg223=)
17	g.80105870G>T	CA401362512	GAA	c.668G>T (p.Arg223Leu)	gnomAD v4
17	g.80105871C>A	CA502177657	GAA	c.669C>A (p.Arg223=)
17	g.80105871C>G	CA502177658	GAA	c.669C>G (p.Arg223=)
17	g.80105871C>T	CA502177659	GAA	c.669C>T (p.Arg223=)	gnomAD v4
17	g.80105872C>A	CA502177660	GAA	c.670C>A (p.Arg224=)
17	g.80105872C=	CA2277811287	GAA	c.670C= (p.Arg224=)
17	g.80105872C>G	CA401362516	GAA	c.670C>G (p.Arg224Gly)	gnomAD v4
17	g.80105872C>T	CA274477	GAA	c.670C>T (p.Arg224Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105873G>A	CA8814958	GAA	c.671G>A (p.Arg224Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105873G>C	CA401362527	GAA	c.671G>C (p.Arg224Pro)	ClinVar dbSNP gnomAD v2
17	g.80105873G=	CA2277811288	GAA	c.671G= (p.Arg224=)
17	g.80105873G>T	CA401362528	GAA	c.671G>T (p.Arg224Leu)	ClinVar
17	g.80105874G>A	CA502177661	GAA	c.672G>A (p.Arg224=)	gnomAD v4
17	g.80105874G>C	CA502177663	GAA	c.672G>C (p.Arg224=)
17	g.80105874G>T	CA502177662	GAA	c.672G>T (p.Arg224=)	gnomAD v4
17	g.80105875C>A	CA401362531	GAA	c.673C>A (p.Gln225Lys)	gnomAD v4
17	g.80105875C>G	CA401362532	GAA	c.673C>G (p.Gln225Glu)
17	g.80105875C>T	CA401362533	GAA	c.673C>T (p.Gln225Ter)	gnomAD v4
17	g.80105876A>C	CA401362534	GAA	c.674A>C (p.Gln225Pro)
17	g.80105876A>G	CA401362535	GAA	c.674A>G (p.Gln225Arg)
17	g.80105876A>T	CA401362536	GAA	c.674A>T (p.Gln225Leu)
17	g.80105877G>A	CA502177664	GAA	c.675G>A (p.Gln225=)
17	g.80105877G>C	CA401362538	GAA	c.675G>C (p.Gln225His)
17	g.80105877G>T	CA401362539	GAA	c.675G>T (p.Gln225His)	gnomAD v4
17	g.80105878C>A	CA401362541	GAA	c.676C>A (p.Leu226Met)	gnomAD v4
17	g.80105878C=	CA2277811289	GAA	c.676C= (p.Leu226=)
17	g.80105878C>G	CA198772	GAA	c.676C>G (p.Leu226Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105878C>T	CA502177665	GAA	c.676C>T (p.Leu226=)	gnomAD v4
17	g.80105879T>A	CA401362557	GAA	c.677T>A (p.Leu226Gln)
17	g.80105879T>C	CA8814959	GAA	c.677T>C (p.Leu226Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80105879T>G	CA401362545	GAA	c.677T>G (p.Leu226Arg)
17	g.80105879T=	CA2277811290	GAA	c.677T= (p.Leu226=)
17	g.80105880G>A	CA502177666	GAA	c.678G>A (p.Leu226=)	dbSNP gnomAD v2 gnomAD v4
17	g.80105880G>C	CA502177667	GAA	c.678G>C (p.Leu226=)
17	g.80105880G=	CA2277811291	GAA	c.678G= (p.Leu226=)
17	g.80105880G>T	CA502177668	GAA	c.678G>T (p.Leu226=)	ClinVar gnomAD v4
17	g.80105881G>A	CA401362563	GAA	c.679G>A (p.Asp227Asn)	gnomAD v4
17	g.80105881G>C	CA401362559	GAA	c.679G>C (p.Asp227His)
17	g.80105881G=	CA2277811292	GAA	c.679G= (p.Asp227=)
17	g.80105881G>T	CA401362561	GAA	c.679G>T (p.Asp227Tyr)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80105882A>C	CA401362565	GAA	c.680A>C (p.Asp227Ala)
17	g.80105882A>G	CA401362568	GAA	c.680A>G (p.Asp227Gly)	gnomAD v4
17	g.80105882A>T	CA401362571	GAA	c.680A>T (p.Asp227Val)
17	g.80105883del	CA2640278262	GAA	c.681del (p.Asp227GlufsTer6)	gnomAD v4
17	g.80105883C>A	CA401362576	GAA	c.681C>A (p.Asp227Glu)
17	g.80105883C=	CA2277811293	GAA	c.681C= (p.Asp227=)
17	g.80105883C>G	CA401362575	GAA	c.681C>G (p.Asp227Glu)
17	g.80105883C>T	CA8814960	GAA	c.681C>T (p.Asp227=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105884G>A	CA8814961	GAA	c.682G>A (p.Gly228Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105884G>C	CA401362580	GAA	c.682G>C (p.Gly228Arg)	gnomAD v4
17	g.80105884G=	CA2277811294	GAA	c.682G= (p.Gly228=)
17	g.80105884G>T	CA401362582	GAA	c.682G>T (p.Gly228Cys)	gnomAD v4
17	g.80105885dup	CA2499225000	GAA	c.683dup (p.Arg229ProfsTer?)	ClinVar dbSNP
17	g.80105885G>A	CA401362586	GAA	c.683G>A (p.Gly228Asp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105885G>C	CA401362589	GAA	c.683G>C (p.Gly228Ala)
17	g.80105885G=	CA2277811295	GAA	c.683G= (p.Gly228=)
17	g.80105885G>T	CA401362593	GAA	c.683G>T (p.Gly228Val)	gnomAD v4
17	g.80105886C>A	CA502177669	GAA	c.684C>A (p.Gly228=)
17	g.80105886C=	CA2277811297	GAA	c.684C= (p.Gly228=)
17	g.80105886C>G	CA502177671	GAA	c.684C>G (p.Gly228=)
17	g.80105886C>T	CA502177670	GAA	c.684C>T (p.Gly228=)	ClinVar dbSNP gnomAD v4
17	g.80105886_80105888delinsCCG	CA2277811296	GAA	c.684_686delinsCCG (p.Gly228=)
17	g.80105887C>A	CA401362596	GAA	c.685C>A (p.Arg229Ser)	gnomAD v4
17	g.80105887C=	CA2277811298	GAA	c.685C= (p.Arg229=)
17	g.80105887C>G	CA401362600	GAA	c.685C>G (p.Arg229Gly)
17	g.80105887C>T	CA8814962	GAA	c.685C>T (p.Arg229Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105887_80105888insCGGC	CA658795233	GAA	c.685_686insCGGC (p.Arg229ProfsTer?)
17	g.80105889_80105890del	CA775509910	GAA	c.687_688del (p.Val230AlafsTer?)	dbSNP gnomAD v3 gnomAD v4
17	g.80105888G>A	CA8814963	GAA	c.686G>A (p.Arg229His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105888G>C	CA401362603	GAA	c.686G>C (p.Arg229Pro)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80105888G=	CA2277811299	GAA	c.686G= (p.Arg229=)
17	g.80105888G>T	CA401362606	GAA	c.686G>T (p.Arg229Leu)	gnomAD v4
17	g.80105889C>A	CA502177672	GAA	c.687C>A (p.Arg229=)	gnomAD v4
17	g.80105889C=	CA2277811300	GAA	c.687C= (p.Arg229=)
17	g.80105889C>G	CA502177673	GAA	c.687C>G (p.Arg229=)
17	g.80105889C>T	CA8814964	GAA	c.687C>T (p.Arg229=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80105890G>A	CA207869	GAA	c.688G>A (p.Val230Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105890G>C	CA401362611	GAA	c.688G>C (p.Val230Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105890G=	CA2277811301	GAA	c.688G= (p.Val230=)
17	g.80105890G>T	CA401362614	GAA	c.688G>T (p.Val230Leu)	gnomAD v4 COSMIC
17	g.80105891T>A	CA401362615	GAA	c.689T>A (p.Val230Glu)
17	g.80105891T>C	CA401362616	GAA	c.689T>C (p.Val230Ala)
17	g.80105891T>G	CA401362618	GAA	c.689T>G (p.Val230Gly)
17	g.80105892G>A	CA502177674	GAA	c.690G>A (p.Val230=)	gnomAD v4
17	g.80105892G>C	CA502177676	GAA	c.690G>C (p.Val230=)	dbSNP gnomAD v4
17	g.80105892G=	CA2277811302	GAA	c.690G= (p.Val230=)
17	g.80105892G>T	CA502177675	GAA	c.690G>T (p.Val230=)	gnomAD v4
17	g.80105893C>A	CA401362630	GAA	c.691C>A (p.Leu231Met)	gnomAD v4
17	g.80105893C>G	CA401362633	GAA	c.691C>G (p.Leu231Val)
17	g.80105893C>T	CA502177677	GAA	c.691C>T (p.Leu231=)	gnomAD v4
17	g.80105894T>A	CA401362639	GAA	c.692T>A (p.Leu231Gln)	gnomAD v4
17	g.80105894T>C	CA401362640	GAA	c.692T>C (p.Leu231Pro)	dbSNP
17	g.80105894T>G	CA401362636	GAA	c.692T>G (p.Leu231Arg)
17	g.80105894T=	CA2277811303	GAA	c.692T= (p.Leu231=)
17	g.80105896_80105897del	CA2695227067	GAA	c.692+2_692+3del
17	g.80105895G>A	CA401362642	GAA	c.692+1G>A (n.692+1G>A)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80105895G>C	CA8814965	GAA	c.692+1G>C (n.692+1G>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80105895G=	CA2277811304	GAA	c.692+1G= (n.692+1G=)
17	g.80105895G>T	CA401362645	GAA	c.692+1G>T (n.692+1G>T)	ClinVar dbSNP gnomAD v4
17	g.80105896T>A	CA401362649	GAA	c.692+2T>A (n.692+2T>A)
17	g.80105896T>C	CA401362651	GAA	c.692+2T>C (n.692+2T>C)	ClinVar dbSNP
17	g.80105896T>G	CA401362653	GAA	c.692+2T>G (n.692+2T>G)
17	g.80105896T=	CA2277811305	GAA	c.692+2T= (n.692+2T=)
17	g.80105897G>C	CA2640278380	GAA	c.692+3G>C (n.692+3G>C)	gnomAD v4
17	g.80105897G>T	CA2640278383	GAA	c.692+3G>T (n.692+3G>T)	gnomAD v4
17	g.80105899G=	CA2277811306	GAA	c.692+5G= (n.692+5G=)
17	g.80105899G>T	CA8814966	GAA	c.692+5G>T (n.692+5G>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105900T>A	CA2640278385	GAA	c.692+6T>A (n.692+6T>A)	gnomAD v4
17	g.80105900T>C	CA2640278388	GAA	c.692+6T>C (n.692+6T>C)	gnomAD v4
17	g.80105902C=	CA2277811307	GAA	c.692+8C= (n.692+8C=)
17	g.80105902C>G	CA2580095306	GAA	c.692+8C>G (n.692+8C>G)	ClinVar
17	g.80105902C>T	CA775509952	GAA	c.692+8C>T (n.692+8C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.80105903T>C	CA8814967	GAA	c.692+9T>C (n.692+9T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105903T=	CA2277811308	GAA	c.692+9T= (n.692+9T=)
17	g.80105903_80105904delinsTG	CA2277811309	GAA	c.692+9_692+10delinsTG (n.692+9_692+10delinsTG)
17	g.80105904G>A	CA2640278394	GAA	c.692+10G>A (n.692+10G>A)	gnomAD v4
17	g.80105904G>T	CA2640278393	GAA	c.692+10G>T (n.692+10G>T)	gnomAD v4
17	g.80105906del	CA986721616	GAA	c.692+12del (n.692+12del)	dbSNP gnomAD v3 gnomAD v4
17	g.80105905G>A	CA2640278401	GAA	c.692+11G>A (n.692+11G>A)	gnomAD v4
17	g.80105905G>C	CA627698832	GAA	c.692+11G>C (n.692+11G>C)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105905G=	CA2277811310	GAA	c.692+11G= (n.692+11G=)
17	g.80105905G>T	CA2640278403	GAA	c.692+11G>T (n.692+11G>T)	gnomAD v4
17	g.80105906G>A	CA627698834	GAA	c.692+12G>A (n.692+12G>A)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80105906G=	CA2277811311	GAA	c.692+12G= (n.692+12G=)
17	g.80105906G>T	CA2573154935	GAA	c.692+12G>T (n.692+12G>T)	ClinVar dbSNP gnomAD v4
17	g.80105907C>A	CA2640278416	GAA	c.692+13C>A (n.692+13C>A)	gnomAD v4
17	g.80105907C>T	CA2640278417	GAA	c.692+13C>T (n.692+13C>T)	gnomAD v4
17	g.80105908del	CA2640278419	GAA	c.692+14del (n.692+14del)	gnomAD v4
17	g.80105909C=	CA2277811312	GAA	c.692+15C= (n.692+15C=)
17	g.80105909C>T	CA627698835	GAA	c.692+15C>T (n.692+15C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105910T>C	CA8814968	GAA	c.692+16T>C (n.692+16T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105910T=	CA2277811313	GAA	c.692+16T= (n.692+16T=)
17	g.80105911G>A	CA2740090870	GAA	c.692+17G>A (n.692+17G>A)	ClinVar
17	g.80105911G>C	CA8814969	GAA	c.692+17G>C (n.692+17G>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105911G=	CA2277811314	GAA	c.692+17G= (n.692+17G=)
17	g.80105911G>T	CA2640278428	GAA	c.692+17G>T (n.692+17G>T)	gnomAD v4
17	g.80105913G>A	CA656889588	GAA	c.692+19G>A (n.692+19G>A)	gnomAD v4 COSMIC
17	g.80105913G>T	CA2640278434	GAA	c.692+19G>T (n.692+19G>T)	gnomAD v4
17	g.80105914C>A	CA2640278443	GAA	c.692+20C>A (n.692+20C>A)	gnomAD v4
17	g.80105914C>T	CA2580095307	GAA	c.692+20C>T (n.692+20C>T)	ClinVar gnomAD v4
17	g.80105915C=	CA2277811315	GAA	c.692+21C= (n.692+21C=)
17	g.80105915C>T	CA2277811316	GAA	c.692+21C>T (n.692+21C>T)	dbSNP gnomAD v4
17	g.80105916A=	CA2277811317	GAA	c.692+22A= (n.692+22A=)
17	g.80105916A>G	CA775509978	GAA	c.692+22A>G (n.692+22A>G)	dbSNP
17	g.80105917G>A	CA2640278452	GAA	c.692+23G>A (n.692+23G>A)	gnomAD v4
17	g.80105917G>T	CA2640278455	GAA	c.692+23G>T (n.692+23G>T)	gnomAD v4

Number of alleles fetched