Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.72887604_72887651del	CA2659569252	SPR	c.172_219del (p.Arg58_Glu73del) n.223_270del	gnomAD v4
2	g.72887636C>A	CA426703277	SPR	c.204C>A (p.Ala68=) n.255C>A	ClinVar gnomAD v4
2	g.72887636C>G	CA426703278	SPR	c.204C>G (p.Ala68=) n.255C>G
2	g.72887636C>T	CA426703279	SPR	c.204C>T (p.Ala68=) n.255C>T	gnomAD v4
2	g.72887637G>A	CA347230733	SPR	c.205G>A (p.Asp69Asn) n.256G>A	gnomAD v4
2	g.72887637G>C	CA347230735	SPR	c.205G>C (p.Asp69His) n.256G>C	gnomAD v4
2	g.72887637G>T	CA347230737	SPR	c.205G>T (p.Asp69Tyr) n.256G>T	gnomAD v4
2	g.72887638A>C	CA347230739	SPR	c.206A>C (p.Asp69Ala) n.257A>C
2	g.72887638A>G	CA347230741	SPR	c.206A>G (p.Asp69Gly) n.257A>G
2	g.72887638A>T	CA347230744	SPR	c.206A>T (p.Asp69Val) n.257A>T	gnomAD v4
2	g.72887639C>A	CA347230746	SPR	c.207C>A (p.Asp69Glu) n.258C>A	dbSNP
2	g.72887639C=	CA1260703432	SPR	c.207C= (p.Asp69=) n.258C=
2	g.72887639C>G	CA1708913	SPR	c.207C>G (p.Asp69Glu) n.258C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.72887639C>T	CA426703280	SPR	c.207C>T (p.Asp69=) n.258C>T	gnomAD v4
2	g.72887640C>A	CA347230749	SPR	c.208C>A (p.Leu70Met) n.259C>A	gnomAD v4
2	g.72887640C>G	CA347230751	SPR	c.208C>G (p.Leu70Val) n.259C>G
2	g.72887640C>T	CA426703281	SPR	c.208C>T (p.Leu70=) n.259C>T	gnomAD v4
2	g.72887641T>A	CA347230754	SPR	c.209T>A (p.Leu70Gln) n.260T>A
2	g.72887641T>C	CA347230756	SPR	c.209T>C (p.Leu70Pro) n.260T>C	gnomAD v4
2	g.72887641T>G	CA347230758	SPR	c.209T>G (p.Leu70Arg) n.260T>G
2	g.72887642G>A	CA426703282	SPR	c.210G>A (p.Leu70=) n.261G>A	dbSNP gnomAD v4
2	g.72887642G>C	CA426703283	SPR	c.210G>C (p.Leu70=) n.261G>C
2	g.72887642G=	CA1260703433	SPR	c.210G= (p.Leu70=) n.261G=
2	g.72887642G>T	CA426703284	SPR	c.210G>T (p.Leu70=) n.261G>T	gnomAD v4
2	g.72887643G>A	CA347230760	SPR	c.211G>A (p.Gly71Ser) n.262G>A	gnomAD v4
2	g.72887643G>C	CA49795579	SPR	c.211G>C (p.Gly71Arg) n.262G>C	dbSNP
2	g.72887643G=	CA1260703434	SPR	c.211G= (p.Gly71=) n.262G=
2	g.72887643G>T	CA347230763	SPR	c.211G>T (p.Gly71Cys) n.262G>T
2	g.72887644G>A	CA347230764	SPR	c.212G>A (p.Gly71Asp) n.263G>A	gnomAD v4
2	g.72887644G>C	CA347230765	SPR	c.212G>C (p.Gly71Ala) n.263G>C
2	g.72887644G=	CA1260703435	SPR	c.212G= (p.Gly71=) n.263G=
2	g.72887644G>T	CA347230767	SPR	c.212G>T (p.Gly71Val) n.263G>T	dbSNP gnomAD v2 gnomAD v4
2	g.72887645C>A	CA426703285	SPR	c.213C>A (p.Gly71=) n.264C>A	gnomAD v4
2	g.72887645C>G	CA426703286	SPR	c.213C>G (p.Gly71=) n.264C>G
2	g.72887645C>T	CA426703287	SPR	c.213C>T (p.Gly71=) n.264C>T	ClinVar gnomAD v4
2	g.72887646G>A	CA347230770	SPR	c.214G>A (p.Ala72Thr) n.265G>A	dbSNP gnomAD v2 gnomAD v4
2	g.72887646G>C	CA347230772	SPR	c.214G>C (p.Ala72Pro) n.265G>C
2	g.72887646G=	CA1260703436	SPR	c.214G= (p.Ala72=) n.265G=
2	g.72887646G>T	CA347230774	SPR	c.214G>T (p.Ala72Ser) n.265G>T	gnomAD v4
2	g.72887646_72887647delinsGC	CA1260703437	SPR	c.214_215delinsGC (p.Ala72=) n.265_266delinsGC
2	g.72887647C>A	CA347230777	SPR	c.215C>A (p.Ala72Asp) n.266C>A	gnomAD v4
2	g.72887647C>G	CA347230780	SPR	c.215C>G (p.Ala72Gly) n.266C>G
2	g.72887647C>T	CA347230778	SPR	c.215C>T (p.Ala72Val) n.266C>T	gnomAD v4
2	g.72887648del	CA1260703438	SPR	c.216del (p.Glu73ArgfsTer?) n.267del	dbSNP
2	g.72887648C>A	CA426703288	SPR	c.216C>A (p.Ala72=) n.267C>A	dbSNP gnomAD v2 gnomAD v4
2	g.72887648C=	CA1260703439	SPR	c.216C= (p.Ala72=) n.267C=
2	g.72887648C>G	CA426703289	SPR	c.216C>G (p.Ala72=) n.267C>G	ClinVar gnomAD v4
2	g.72887648C>T	CA426703290	SPR	c.216C>T (p.Ala72=) n.267C>T	dbSNP gnomAD v2 gnomAD v4
2	g.72887649G>A	CA347230782	SPR	c.217G>A (p.Glu73Lys) n.268G>A	dbSNP gnomAD v4
2	g.72887649G>C	CA347230786	SPR	c.217G>C (p.Glu73Gln) n.268G>C	gnomAD v4
2	g.72887649G=	CA1260703440	SPR	c.217G= (p.Glu73=) n.268G=
2	g.72887649G>T	CA347230784	SPR	c.217G>T (p.Glu73Ter) n.268G>T	gnomAD v4
2	g.72887650A>C	CA347230787	SPR	c.218A>C (p.Glu73Ala) n.269A>C
2	g.72887650A>G	CA347230791	SPR	c.218A>G (p.Glu73Gly) n.269A>G	gnomAD v4
2	g.72887650A>T	CA347230789	SPR	c.218A>T (p.Glu73Val) n.269A>T
2	g.72887651G>A	CA426703291	SPR	c.219G>A (p.Glu73=) n.270G>A	gnomAD v4
2	g.72887651G>C	CA49795586	SPR	c.219G>C (p.Glu73Asp) n.270G>C	dbSNP
2	g.72887651G=	CA1260703441	SPR	c.219G= (p.Glu73=) n.270G=
2	g.72887651G>T	CA347230793	SPR	c.219G>T (p.Glu73Asp) n.270G>T	gnomAD v4
2	g.72887652G>A	CA347230795	SPR	c.220G>A (p.Ala74Thr) n.271G>A	dbSNP gnomAD v4
2	g.72887652G>C	CA347230797	SPR	c.220G>C (p.Ala74Pro) n.271G>C
2	g.72887652G=	CA1260703442	SPR	c.220G= (p.Ala74=) n.271G=
2	g.72887652G>T	CA347230799	SPR	c.220G>T (p.Ala74Ser) n.271G>T	gnomAD v4
2	g.72887653C>A	CA347230800	SPR	c.221C>A (p.Ala74Asp) n.272C>A	gnomAD v4
2	g.72887653C=	CA1260703443	SPR	c.221C= (p.Ala74=) n.272C=
2	g.72887653C>G	CA347230802	SPR	c.221C>G (p.Ala74Gly) n.272C>G
2	g.72887653C>T	CA347230803	SPR	c.221C>T (p.Ala74Val) n.272C>T	dbSNP gnomAD v3 gnomAD v4
2	g.72887654C>A	CA426703292	SPR	c.222C>A (p.Ala74=) n.273C>A	gnomAD v4
2	g.72887654C=	CA1260703444	SPR	c.222C= (p.Ala74=) n.273C=
2	g.72887654C>G	CA426703293	SPR	c.222C>G (p.Ala74=) n.273C>G
2	g.72887654C>T	CA1708914	SPR	c.222C>T (p.Ala74=) n.273C>T	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.72887655G>A	CA347230807	SPR	c.223G>A (p.Gly75Ser) n.274G>A	dbSNP gnomAD v4
2	g.72887655G>C	CA347230808	SPR	c.223G>C (p.Gly75Arg) n.274G>C
2	g.72887655G=	CA1260703445	SPR	c.223G= (p.Gly75=) n.274G=
2	g.72887655G>T	CA347230809	SPR	c.223G>T (p.Gly75Cys) n.274G>T	gnomAD v4
2	g.72887656G>A	CA347230812	SPR	c.224G>A (p.Gly75Asp) n.275G>A	gnomAD v4
2	g.72887656G>C	CA347230813	SPR	c.224G>C (p.Gly75Ala) n.275G>C
2	g.72887656G>T	CA347230815	SPR	c.224G>T (p.Gly75Val) n.275G>T	gnomAD v4
2	g.72887657C>A	CA426703294	SPR	c.225C>A (p.Gly75=) n.276C>A	gnomAD v4
2	g.72887657C>G	CA426703295	SPR	c.225C>G (p.Gly75=) n.276C>G
2	g.72887657C>T	CA426703296	SPR	c.225C>T (p.Gly75=) n.276C>T
2	g.72887658T>A	CA347230817	SPR	c.226T>A (p.Leu76Met) n.277T>A
2	g.72887658T>C	CA426703297	SPR	c.226T>C (p.Leu76=) n.277T>C	gnomAD v4
2	g.72887658T>G	CA347230818	SPR	c.226T>G (p.Leu76Val) n.277T>G
2	g.72887659T>A	CA347230820	SPR	c.227T>A (p.Leu76Ter) n.278T>A
2	g.72887659T>C	CA347230821	SPR	c.227T>C (p.Leu76Ser) n.278T>C	gnomAD v4
2	g.72887659T>G	CA347230824	SPR	c.227T>G (p.Leu76Trp) n.278T>G
2	g.72887659T=	CA1260703446	SPR	c.227T= (p.Leu76=) n.278T=
2	g.72887660G>A	CA49795588	SPR	c.228G>A (p.Leu76=) n.279G>A	ClinVar dbSNP gnomAD v4
2	g.72887660G>C	CA347230826	SPR	c.228G>C (p.Leu76Phe) n.279G>C	gnomAD v4
2	g.72887660G=	CA1260703448	SPR	c.228G= (p.Leu76=) n.279G=
2	g.72887660G>T	CA347230828	SPR	c.228G>T (p.Leu76Phe) n.279G>T	gnomAD v4
2	g.72887665_72887667dup	CA1260703447	SPR	c.233_235dup (p.Gln78_Leu79insGln) n.284_286dup	dbSNP
2	g.72887661C>A	CA347230830	SPR	c.229C>A (p.Gln77Lys) n.280C>A	gnomAD v4
2	g.72887661C>G	CA347230832	SPR	c.229C>G (p.Gln77Glu) n.280C>G
2	g.72887661C>T	CA347230834	SPR	c.229C>T (p.Gln77Ter) n.280C>T	gnomAD v4
2	g.72887662A=	CA1260703449	SPR	c.230A= (p.Gln77=) n.281A=
2	g.72887662A>C	CA347230837	SPR	c.230A>C (p.Gln77Pro) n.281A>C
2	g.72887662A>G	CA49795590	SPR	c.230A>G (p.Gln77Arg) n.281A>G	dbSNP gnomAD v3 gnomAD v4
2	g.72887662A>T	CA347230839	SPR	c.230A>T (p.Gln77Leu) n.281A>T
2	g.72887663G>A	CA426703298	SPR	c.231G>A (p.Gln77=) n.282G>A	gnomAD v4
2	g.72887663G>C	CA347230840	SPR	c.231G>C (p.Gln77His) n.282G>C
2	g.72887663G>T	CA347230842	SPR	c.231G>T (p.Gln77His) n.282G>T
2	g.72887664C>A	CA347230844	SPR	c.232C>A (p.Gln78Lys) n.283C>A	gnomAD v4
2	g.72887664C>G	CA347230845	SPR	c.232C>G (p.Gln78Glu) n.283C>G
2	g.72887664C>T	CA347230846	SPR	c.232C>T (p.Gln78Ter) n.283C>T	gnomAD v4
2	g.72887665A>C	CA347230847	SPR	c.233A>C (p.Gln78Pro) n.284A>C
2	g.72887665A>G	CA347230848	SPR	c.233A>G (p.Gln78Arg) n.284A>G	gnomAD v4
2	g.72887665A>T	CA347230849	SPR	c.233A>T (p.Gln78Leu) n.284A>T
2	g.72887666G>A	CA426703299	SPR	c.234G>A (p.Gln78=) n.285G>A	gnomAD v4
2	g.72887666G>C	CA347230851	SPR	c.234G>C (p.Gln78His) n.285G>C	gnomAD v4
2	g.72887666G>T	CA347230853	SPR	c.234G>T (p.Gln78His) n.285G>T	gnomAD v4
2	g.72887667C>A	CA347230855	SPR	c.235C>A (p.Leu79Met) n.286C>A	gnomAD v4
2	g.72887667C=	CA1260703450	SPR	c.235C= (p.Leu79=) n.286C=
2	g.72887667C>G	CA49795596	SPR	c.235C>G (p.Leu79Val) n.286C>G	dbSNP gnomAD v3 gnomAD v4
2	g.72887667C>T	CA426703300	SPR	c.235C>T (p.Leu79=) n.286C>T	gnomAD v4
2	g.72887668T>A	CA347230857	SPR	c.236T>A (p.Leu79Gln) n.287T>A
2	g.72887668T>C	CA347230859	SPR	c.236T>C (p.Leu79Pro) n.287T>C
2	g.72887668T>G	CA347230861	SPR	c.236T>G (p.Leu79Arg) n.287T>G
2	g.72887669G>A	CA426703301	SPR	c.237G>A (p.Leu79=) n.288G>A	gnomAD v4
2	g.72887669G>C	CA426703302	SPR	c.237G>C (p.Leu79=) n.288G>C
2	g.72887669G>T	CA426703303	SPR	c.237G>T (p.Leu79=) n.288G>T	gnomAD v4
2	g.72887670C>A	CA347230864	SPR	c.238C>A (p.Leu80Ile) n.289C>A	gnomAD v4
2	g.72887670C>G	CA347230868	SPR	c.238C>G (p.Leu80Val) n.289C>G
2	g.72887670C>T	CA347230866	SPR	c.238C>T (p.Leu80Phe) n.289C>T	gnomAD v4
2	g.72887671T>A	CA347230870	SPR	c.239T>A (p.Leu80His) n.290T>A	gnomAD v4
2	g.72887671T>C	CA347230872	SPR	c.239T>C (p.Leu80Pro) n.290T>C	dbSNP gnomAD v4
2	g.72887671T>G	CA347230874	SPR	c.239T>G (p.Leu80Arg) n.290T>G
2	g.72887671T=	CA1260703451	SPR	c.239T= (p.Leu80=) n.290T=
2	g.72887672C>A	CA426703304	SPR	c.240C>A (p.Leu80=) n.291C>A	gnomAD v4
2	g.72887672C=	CA1260703452	SPR	c.240C= (p.Leu80=) n.291C=
2	g.72887672C>G	CA426703305	SPR	c.240C>G (p.Leu80=) n.291C>G
2	g.72887672C>T	CA1708915	SPR	c.240C>T (p.Leu80=) n.291C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.72887673G>A	CA347230876	SPR	c.241G>A (p.Gly81Ser) n.292G>A	gnomAD v4
2	g.72887673G>C	CA347230877	SPR	c.241G>C (p.Gly81Arg) n.292G>C	gnomAD v4
2	g.72887673G>T	CA347230880	SPR	c.241G>T (p.Gly81Cys) n.292G>T	gnomAD v4
2	g.72887674G>A	CA347230882	SPR	c.242G>A (p.Gly81Asp) n.293G>A	dbSNP gnomAD v3 gnomAD v4
2	g.72887674G>C	CA347230884	SPR	c.242G>C (p.Gly81Ala) n.293G>C
2	g.72887674G=	CA1260703453	SPR	c.242G= (p.Gly81=) n.293G=
2	g.72887674G>T	CA347230887	SPR	c.242G>T (p.Gly81Val) n.293G>T
2	g.72887675C>A	CA426703308	SPR	c.243C>A (p.Gly81=) n.294C>A	gnomAD v4
2	g.72887675C=	CA1260703454	SPR	c.243C= (p.Gly81=) n.294C=
2	g.72887675C>G	CA426703307	SPR	c.243C>G (p.Gly81=) n.294C>G
2	g.72887675C>T	CA426703306	SPR	c.243C>T (p.Gly81=) n.294C>T	ClinVar dbSNP gnomAD v4
2	g.72887676G>A	CA1708916	SPR	c.244G>A (p.Ala82Thr) n.295G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.72887676G>C	CA347230891	SPR	c.244G>C (p.Ala82Pro) n.295G>C
2	g.72887676G=	CA1260703455	SPR	c.244G= (p.Ala82=) n.295G=
2	g.72887676G>T	CA49795617	SPR	c.244G>T (p.Ala82Ser) n.295G>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.72887677C>A	CA347230895	SPR	c.245C>A (p.Ala82Asp) n.296C>A	gnomAD v4
2	g.72887677C=	CA1260703456	SPR	c.245C= (p.Ala82=) n.296C=
2	g.72887677C>G	CA347230898	SPR	c.245C>G (p.Ala82Gly) n.296C>G
2	g.72887677C>T	CA347230897	SPR	c.245C>T (p.Ala82Val) n.296C>T	dbSNP gnomAD v2 gnomAD v4
2	g.72887678C>A	CA426703309	SPR	c.246C>A (p.Ala82=) n.297C>A	gnomAD v4
2	g.72887678C=	CA1260703457	SPR	c.246C= (p.Ala82=) n.297C=
2	g.72887678C>G	CA426703310	SPR	c.246C>G (p.Ala82=) n.297C>G
2	g.72887678C>T	CA426703311	SPR	c.246C>T (p.Ala82=) n.297C>T	dbSNP gnomAD v2 gnomAD v4
2	g.72887679C>A	CA347230899	SPR	c.247C>A (p.Leu83Met) n.298C>A	gnomAD v4
2	g.72887679C=	CA1260703458	SPR	c.247C= (p.Leu83=) n.298C=
2	g.72887679C>G	CA347230901	SPR	c.247C>G (p.Leu83Val) n.298C>G
2	g.72887679C>T	CA426703312	SPR	c.247C>T (p.Leu83=) n.298C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.72887680T>A	CA347230902	SPR	c.248T>A (p.Leu83Gln) n.299T>A	gnomAD v4
2	g.72887680T>C	CA347230904	SPR	c.248T>C (p.Leu83Pro) n.299T>C	gnomAD v4
2	g.72887680T>G	CA347230906	SPR	c.248T>G (p.Leu83Arg) n.299T>G
2	g.72887681G>A	CA426703314	SPR	c.249G>A (p.Leu83=) n.300G>A	gnomAD v4
2	g.72887681G>C	CA426703315	SPR	c.249G>C (p.Leu83=) n.300G>C	ClinVar gnomAD v4
2	g.72887681G>T	CA426703316	SPR	c.249G>T (p.Leu83=) n.300G>T	gnomAD v4
2	g.72887682C>A	CA347230908	SPR	c.250C>A (p.Arg84Ser) n.301C>A	gnomAD v4
2	g.72887682C>G	CA347230910	SPR	c.250C>G (p.Arg84Gly) n.301C>G
2	g.72887682C>T	CA347230912	SPR	c.250C>T (p.Arg84Cys) n.301C>T	gnomAD v4
2	g.72887683G>A	CA347231215	SPR	c.251G>A (p.Arg84His) n.302G>A	gnomAD v4
2	g.72887683G>C	CA347231216	SPR	c.251G>C (p.Arg84Pro) n.302G>C	gnomAD v4
2	g.72887683G>T	CA347231217	SPR	c.251G>T (p.Arg84Leu) n.302G>T	gnomAD v4
2	g.72887684C>A	CA426703320	SPR	c.252C>A (p.Arg84=) n.303C>A	gnomAD v4
2	g.72887684C=	CA1260703459	SPR	c.252C= (p.Arg84=) n.303C=
2	g.72887684C>G	CA426703321	SPR	c.252C>G (p.Arg84=) n.303C>G
2	g.72887684C>T	CA1708917	SPR	c.252C>T (p.Arg84=) n.303C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.72887685G>A	CA347231218	SPR	c.253G>A (p.Glu85Lys) n.304G>A	gnomAD v4
2	g.72887685G>C	CA347231220	SPR	c.253G>C (p.Glu85Gln) n.304G>C	gnomAD v4
2	g.72887685G>T	CA347231219	SPR	c.253G>T (p.Glu85Ter) n.304G>T	gnomAD v4
2	g.72887686A>C	CA347231221	SPR	c.254A>C (p.Glu85Ala) n.305A>C
2	g.72887686A>G	CA347231222	SPR	c.254A>G (p.Glu85Gly) n.305A>G	gnomAD v4
2	g.72887686A>T	CA347231223	SPR	c.254A>T (p.Glu85Val) n.305A>T
2	g.72887687G>A	CA1708918	SPR	c.255G>A (p.Glu85=) n.306G>A	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.72887687G>C	CA347231224	SPR	c.255G>C (p.Glu85Asp) n.306G>C	gnomAD v4
2	g.72887687G=	CA1260703460	SPR	c.255G= (p.Glu85=) n.306G=
2	g.72887687G>T	CA347231225	SPR	c.255G>T (p.Glu85Asp) n.306G>T	gnomAD v4
2	g.72887688C>A	CA347231226	SPR	c.256C>A (p.Leu86Ile) n.307C>A	dbSNP gnomAD v4
2	g.72887688C=	CA1260703461	SPR	c.256C= (p.Leu86=) n.307C=
2	g.72887688C>G	CA347231227	SPR	c.256C>G (p.Leu86Val) n.307C>G
2	g.72887688C>T	CA347231228	SPR	c.256C>T (p.Leu86Phe) n.307C>T	gnomAD v4
2	g.72887689T>A	CA347231230	SPR	c.257T>A (p.Leu86His) n.308T>A
2	g.72887689T>C	CA347231231	SPR	c.257T>C (p.Leu86Pro) n.308T>C	gnomAD v4
2	g.72887689T>G	CA347231229	SPR	c.257T>G (p.Leu86Arg) n.308T>G
2	g.72887689_72887690delinsTC	CA1260703462	SPR	c.257_258delinsTC (p.Leu86=) n.308_309delinsTC
2	g.72887690C>A	CA426703322	SPR	c.258C>A (p.Leu86=) n.309C>A
2	g.72887690C=	CA1260703463	SPR	c.258C= (p.Leu86=) n.309C=
2	g.72887690C>G	CA426703323	SPR	c.258C>G (p.Leu86=) n.309C>G
2	g.72887690C>T	CA426703324	SPR	c.258C>T (p.Leu86=) n.309C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.72887694del	CA533268791	SPR	c.262del (p.Arg88GlyfsTer27) n.313del	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.72887691C>A	CA49795632	SPR	c.259C>A (p.Pro87Thr) n.310C>A	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.72887691C=	CA1260703464	SPR	c.259C= (p.Pro87=) n.310C=
2	g.72887691C>G	CA347231232	SPR	c.259C>G (p.Pro87Ala) n.310C>G
2	g.72887691C>T	CA347231233	SPR	c.259C>T (p.Pro87Ser) n.310C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.72887692C>A	CA347231234	SPR	c.260C>A (p.Pro87His) n.311C>A	gnomAD v4
2	g.72887692C=	CA1260703465	SPR	c.260C= (p.Pro87=) n.311C=
2	g.72887692C>G	CA347231235	SPR	c.260C>G (p.Pro87Arg) n.311C>G	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.72887692C>T	CA347231236	SPR	c.260C>T (p.Pro87Leu) n.311C>T	gnomAD v4
2	g.72887693C>A	CA426703326	SPR	c.261C>A (p.Pro87=) n.312C>A	dbSNP gnomAD v2 gnomAD v4
2	g.72887693C=	CA1260703466	SPR	c.261C= (p.Pro87=) n.312C=
2	g.72887693C>G	CA49795656	SPR	c.261C>G (p.Pro87=) n.312C>G	ClinVar dbSNP gnomAD v4
2	g.72887693C>T	CA426703327	SPR	c.261C>T (p.Pro87=) n.312C>T	gnomAD v4
2	g.72887694C>A	CA426703328	SPR	c.262C>A (p.Arg88=) n.313C>A	gnomAD v4
2	g.72887694C=	CA1260703467	SPR	c.262C= (p.Arg88=) n.313C=
2	g.72887694C>G	CA347231237	SPR	c.262C>G (p.Arg88Gly) n.313C>G	gnomAD v4
2	g.72887694C>T	CA1708919	SPR	c.262C>T (p.Arg88Trp) n.313C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.72887695G>A	CA49795660	SPR	c.263G>A (p.Arg88Gln) n.314G>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.72887695G>C	CA347231238	SPR	c.263G>C (p.Arg88Pro) n.314G>C
2	g.72887695G=	CA1260703468	SPR	c.263G= (p.Arg88=) n.314G=
2	g.72887695G>T	CA347231239	SPR	c.263G>T (p.Arg88Leu) n.314G>T	gnomAD v4
2	g.72887696G>A	CA49795671	SPR	c.264G>A (p.Arg88=) n.315G>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.72887696G>C	CA426703330	SPR	c.264G>C (p.Arg88=) n.315G>C	gnomAD v4
2	g.72887696G=	CA1260703469	SPR	c.264G= (p.Arg88=) n.315G=
2	g.72887696G>T	CA426703329	SPR	c.264G>T (p.Arg88=) n.315G>T	gnomAD v4
2	g.72887697C>A	CA347231241	SPR	c.265C>A (p.Pro89Thr) n.316C>A	gnomAD v4
2	g.72887697C>G	CA347231242	SPR	c.265C>G (p.Pro89Ala) n.316C>G
2	g.72887697C>T	CA347231240	SPR	c.265C>T (p.Pro89Ser) n.316C>T	gnomAD v4
2	g.72887698C>A	CA347231243	SPR	c.266C>A (p.Pro89His) n.317C>A	gnomAD v4
2	g.72887698C=	CA1260703470	SPR	c.266C= (p.Pro89=) n.317C=
2	g.72887698C>G	CA347231244	SPR	c.266C>G (p.Pro89Arg) n.317C>G
2	g.72887698C>T	CA1708920	SPR	c.266C>T (p.Pro89Leu) n.317C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.72887699C>A	CA426703331	SPR	c.267C>A (p.Pro89=) n.318C>A	gnomAD v4
2	g.72887699C>G	CA426703332	SPR	c.267C>G (p.Pro89=) n.318C>G
2	g.72887699C>T	CA426703333	SPR	c.267C>T (p.Pro89=) n.318C>T	gnomAD v4
2	g.72887700A>C	CA347231245	SPR	c.268A>C (p.Lys90Gln) n.319A>C	dbSNP
2	g.72887700A>G	CA347231246	SPR	c.268A>G (p.Lys90Glu) n.319A>G	gnomAD v4
2	g.72887700A>T	CA347231247	SPR	c.268A>T (p.Lys90Ter) n.319A>T
2	g.72887701A>C	CA347231248	SPR	c.269A>C (p.Lys90Thr) n.320A>C
2	g.72887701A>G	CA347231250	SPR	c.269A>G (p.Lys90Arg) n.320A>G	gnomAD v4
2	g.72887701A>T	CA347231249	SPR	c.269A>T (p.Lys90Met) n.320A>T	gnomAD v4
2	g.72887702G>A	CA426703334	SPR	c.270G>A (p.Lys90=) n.321G>A	gnomAD v4
2	g.72887702G>C	CA347231251	SPR	c.270G>C (p.Lys90Asn) n.321G>C
2	g.72887702G>T	CA347231252	SPR	c.270G>T (p.Lys90Asn) n.321G>T	gnomAD v4
2	g.72887705del	CA2659569253	SPR	c.273del (p.Leu92CysfsTer23) n.324del	gnomAD v4
2	g.72887703G>A	CA347231253	SPR	c.271G>A (p.Gly91Arg) n.322G>A	gnomAD v4
2	g.72887703G>C	CA347231254	SPR	c.271G>C (p.Gly91Arg) n.322G>C	dbSNP gnomAD v2 gnomAD v4
2	g.72887703G=	CA1260703471	SPR	c.271G= (p.Gly91=) n.322G=
2	g.72887703G>T	CA347231255	SPR	c.271G>T (p.Gly91Trp) n.322G>T	gnomAD v4
2	g.72887704G>A	CA347231257	SPR	c.272G>A (p.Gly91Glu) n.323G>A	gnomAD v4
2	g.72887704G>C	CA347231258	SPR	c.272G>C (p.Gly91Ala) n.323G>C
2	g.72887704G>T	CA347231256	SPR	c.272G>T (p.Gly91Val) n.323G>T	gnomAD v4
2	g.72887705G>A	CA426703335	SPR	c.273G>A (p.Gly91=) n.324G>A	gnomAD v4
2	g.72887705G>C	CA426703336	SPR	c.273G>C (p.Gly91=) n.324G>C
2	g.72887705G=	CA1260703472	SPR	c.273G= (p.Gly91=) n.324G=
2	g.72887705G>T	CA426703337	SPR	c.273G>T (p.Gly91=) n.324G>T	ClinVar dbSNP gnomAD v4
2	g.72887706C>A	CA347231260	SPR	c.274C>A (p.Leu92Met) n.325C>A	gnomAD v4
2	g.72887706C>G	CA347231259	SPR	c.274C>G (p.Leu92Val) n.325C>G
2	g.72887706C>T	CA426703338	SPR	c.274C>T (p.Leu92=) n.325C>T	gnomAD v4
2	g.72887707T>A	CA347231263	SPR	c.275T>A (p.Leu92Gln) n.326T>A
2	g.72887707T>C	CA347231261	SPR	c.275T>C (p.Leu92Pro) n.326T>C	gnomAD v4
2	g.72887707T>G	CA347231262	SPR	c.275T>G (p.Leu92Arg) n.326T>G
2	g.72887708G>A	CA426703339	SPR	c.276G>A (p.Leu92=) n.327G>A	gnomAD v4
2	g.72887708G>C	CA426703341	SPR	c.276G>C (p.Leu92=) n.327G>C	gnomAD v4
2	g.72887708G>T	CA426703340	SPR	c.276G>T (p.Leu92=) n.327G>T	gnomAD v4
2	g.72887709C>A	CA347231264	SPR	c.277C>A (p.Gln93Lys) n.328C>A	gnomAD v4
2	g.72887709C=	CA1260703473	SPR	c.277C= (p.Gln93=) n.328C=
2	g.72887709C>G	CA347231265	SPR	c.277C>G (p.Gln93Glu) n.328C>G	gnomAD v4
2	g.72887709C>T	CA347231266	SPR	c.277C>T (p.Gln93Ter) n.328C>T	ClinVar dbSNP gnomAD v4
2	g.72887710A>C	CA347231267	SPR	c.278A>C (p.Gln93Pro) n.329A>C
2	g.72887710A>G	CA347231268	SPR	c.278A>G (p.Gln93Arg) n.329A>G	gnomAD v4
2	g.72887710A>T	CA347231269	SPR	c.278A>T (p.Gln93Leu) n.329A>T	gnomAD v4
2	g.72887710_72887711del	CA2659569254	SPR	c.278_279del (p.Gln93ProfsTer23) n.329_330del	gnomAD v4
2	g.72887711G>A	CA426703342	SPR	c.279G>A (p.Gln93=) n.330G>A	gnomAD v4
2	g.72887711G>C	CA347231270	SPR	c.279G>C (p.Gln93His) n.330G>C
2	g.72887711G>T	CA347231271	SPR	c.279G>T (p.Gln93His) n.330G>T
2	g.72887712C>A	CA426703343	SPR	c.280C>A (p.Arg94=) n.331C>A	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.72887712C=	CA1260703474	SPR	c.280C= (p.Arg94=) n.331C=
2	g.72887712C>G	CA347231272	SPR	c.280C>G (p.Arg94Gly) n.331C>G	gnomAD v4
2	g.72887712C>T	CA347231273	SPR	c.280C>T (p.Arg94Ter) n.331C>T	gnomAD v4
2	g.72887713G>A	CA347231274	SPR	c.281G>A (p.Arg94Gln) n.332G>A	dbSNP gnomAD v2 gnomAD v4
2	g.72887713G>C	CA347231276	SPR	c.281G>C (p.Arg94Pro) n.332G>C	gnomAD v4
2	g.72887713G=	CA1260703475	SPR	c.281G= (p.Arg94=) n.332G=
2	g.72887713G>T	CA347231275	SPR	c.281G>T (p.Arg94Leu) n.332G>T	gnomAD v4
2	g.72887714A=	CA1260703476	SPR	c.282A= (p.Arg94=) n.333A=
2	g.72887714A>C	CA426703344	SPR	c.282A>C (p.Arg94=) n.333A>C	dbSNP
2	g.72887714A>G	CA426703346	SPR	c.282A>G (p.Arg94=) n.333A>G	dbSNP gnomAD v3 gnomAD v4
2	g.72887714A>T	CA426703345	SPR	c.282A>T (p.Arg94=) n.333A>T
2	g.72887715C>A	CA347231277	SPR	c.283C>A (p.Leu95Met) n.334C>A	gnomAD v4
2	g.72887715C=	CA1260703477	SPR	c.283C= (p.Leu95=) n.334C=
2	g.72887715C>G	CA347231278	SPR	c.283C>G (p.Leu95Val) n.334C>G	ClinVar dbSNP gnomAD v4
2	g.72887715C>T	CA426703347	SPR	c.283C>T (p.Leu95=) n.334C>T
2	g.72887716T>A	CA347231279	SPR	c.284T>A (p.Leu95Gln) n.335T>A	gnomAD v4
2	g.72887716T>C	CA347231280	SPR	c.284T>C (p.Leu95Pro) n.335T>C	gnomAD v4
2	g.72887716T>G	CA347231281	SPR	c.284T>G (p.Leu95Arg) n.335T>G	gnomAD v4
2	g.72887717G>A	CA426703348	SPR	c.285G>A (p.Leu95=) n.336G>A	ClinVar gnomAD v4
2	g.72887717G>C	CA426703349	SPR	c.285G>C (p.Leu95=) n.336G>C
2	g.72887717G>T	CA426703350	SPR	c.285G>T (p.Leu95=) n.336G>T	gnomAD v4
2	g.72887718C>A	CA347231282	SPR	c.286C>A (p.Leu96Met) n.337C>A	gnomAD v4
2	g.72887718C>G	CA347231283	SPR	c.286C>G (p.Leu96Val) n.337C>G
2	g.72887718C>T	CA426703351	SPR	c.286C>T (p.Leu96=) n.337C>T	gnomAD v4
2	g.72887719T>A	CA347231284	SPR	c.287T>A (p.Leu96Gln) n.338T>A
2	g.72887719T>C	CA347231285	SPR	c.287T>C (p.Leu96Pro) n.338T>C	gnomAD v4
2	g.72887719T>G	CA347231286	SPR	c.287T>G (p.Leu96Arg) n.338T>G
2	g.72887720G>A	CA426703352	SPR	c.288G>A (p.Leu96=) n.339G>A	gnomAD v4
2	g.72887720G>C	CA426703353	SPR	c.288G>C (p.Leu96=) n.339G>C
2	g.72887720G>T	CA426703354	SPR	c.288G>T (p.Leu96=) n.339G>T	gnomAD v4
2	g.72887721C>A	CA347231287	SPR	c.289C>A (p.Leu97Ile) n.340C>A	gnomAD v4
2	g.72887721C=	CA1260703479	SPR	c.289C= (p.Leu97=) n.340C=
2	g.72887721C>G	CA347231288	SPR	c.289C>G (p.Leu97Val) n.340C>G
2	g.72887721C>T	CA49795685	SPR	c.289C>T (p.Leu97Phe) n.340C>T	dbSNP gnomAD v2 gnomAD v4
2	g.72887721_72887724delinsCTTA	CA1260703478	SPR	c.289_292delinsCTTA (p.Leu97=) n.340_343delinsCTTA
2	g.72887722T>A	CA347231289	SPR	c.290T>A (p.Leu97His) n.341T>A	gnomAD v4
2	g.72887722T>C	CA347231290	SPR	c.290T>C (p.Leu97Pro) n.341T>C	gnomAD v4
2	g.72887722T>G	CA347231291	SPR	c.290T>G (p.Leu97Arg) n.341T>G
2	g.72887723del	CA2659569255	SPR	c.291del (p.Ile98SerfsTer17) n.342del	gnomAD v4
2	g.72887723_72887725del	CA891862901	SPR	c.291_293del (p.Ile98del) n.342_344del	ClinVar dbSNP
2	g.72887723T>A	CA426703357	SPR	c.291T>A (p.Leu97=) n.342T>A
2	g.72887723T>C	CA426703355	SPR	c.291T>C (p.Leu97=) n.342T>C	dbSNP gnomAD v3 gnomAD v4
2	g.72887723T>G	CA426703356	SPR	c.291T>G (p.Leu97=) n.342T>G
2	g.72887723T=	CA1260703480	SPR	c.291T= (p.Leu97=) n.342T=
2	g.72887724A>C	CA347231292	SPR	c.292A>C (p.Ile98Leu) n.343A>C
2	g.72887724A>G	CA347231293	SPR	c.292A>G (p.Ile98Val) n.343A>G	gnomAD v4
2	g.72887724A>T	CA347231294	SPR	c.292A>T (p.Ile98Phe) n.343A>T	gnomAD v4
2	g.72887725T>A	CA347231295	SPR	c.293T>A (p.Ile98Asn) n.344T>A	gnomAD v4
2	g.72887725T>C	CA347231296	SPR	c.293T>C (p.Ile98Thr) n.344T>C	gnomAD v4
2	g.72887725T>G	CA347231297	SPR	c.293T>G (p.Ile98Ser) n.344T>G
2	g.72887726C>A	CA426703358	SPR	c.294C>A (p.Ile98=) n.345C>A	gnomAD v4
2	g.72887726C=	CA1260703481	SPR	c.294C= (p.Ile98=) n.345C=
2	g.72887726C>G	CA347231298	SPR	c.294C>G (p.Ile98Met) n.345C>G	dbSNP gnomAD v4
2	g.72887726C>T	CA426703359	SPR	c.294C>T (p.Ile98=) n.345C>T	gnomAD v4
2	g.72887727A=	CA1260703482	SPR	c.295A= (p.Asn99=) n.346A=
2	g.72887727A>C	CA347231299	SPR	c.295A>C (p.Asn99His) n.346A>C
2	g.72887727A>G	CA347231300	SPR	c.295A>G (p.Asn99Asp) n.346A>G	dbSNP gnomAD v4
2	g.72887727A>T	CA347231301	SPR	c.295A>T (p.Asn99Tyr) n.346A>T
2	g.72887728A>C	CA347231304	SPR	c.296A>C (p.Asn99Thr) n.347A>C
2	g.72887728A>G	CA347231303	SPR	c.296A>G (p.Asn99Ser) n.347A>G	gnomAD v4
2	g.72887728A>T	CA347231302	SPR	c.296A>T (p.Asn99Ile) n.347A>T	gnomAD v4
2	g.72887729C>A	CA347231305	SPR	c.297C>A (p.Asn99Lys) n.348C>A	gnomAD v4
2	g.72887729C=	CA1260703483	SPR	c.297C= (p.Asn99=) n.348C=
2	g.72887729C>G	CA347231306	SPR	c.297C>G (p.Asn99Lys) n.348C>G
2	g.72887729C>T	CA426703360	SPR	c.297C>T (p.Asn99=) n.348C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.72887730A=	CA1260703484	SPR	c.298A= (p.Asn100=) n.349A=
2	g.72887730A>C	CA347231307	SPR	c.298A>C (p.Asn100His) n.349A>C
2	g.72887730A>G	CA347231308	SPR	c.298A>G (p.Asn100Asp) n.349A>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.72887730A>T	CA347231309	SPR	c.298A>T (p.Asn100Tyr) n.349A>T
2	g.72887731A=	CA1260703485	SPR	c.299A= (p.Asn100=) n.350A=
2	g.72887731A>C	CA347231310	SPR	c.299A>C (p.Asn100Thr) n.350A>C	gnomAD v4
2	g.72887731A>G	CA347231311	SPR	c.299A>G (p.Asn100Ser) n.350A>G	dbSNP gnomAD v2 gnomAD v4
2	g.72887731A>T	CA347231312	SPR	c.299A>T (p.Asn100Ile) n.350A>T
2	g.72887732C>A	CA347231313	SPR	c.300C>A (p.Asn100Lys) n.351C>A	gnomAD v4
2	g.72887732C>G	CA347231314	SPR	c.300C>G (p.Asn100Lys) n.351C>G
2	g.72887732C>T	CA426703361	SPR	c.300C>T (p.Asn100=) n.351C>T	gnomAD v4
2	g.72887733G>A	CA347231315	SPR	c.301G>A (p.Ala101Thr) n.352G>A	gnomAD v4
2	g.72887733G>C	CA347231316	SPR	c.301G>C (p.Ala101Pro) n.352G>C
2	g.72887733G=	CA1260703486	SPR	c.301G= (p.Ala101=) n.352G=
2	g.72887733G>T	CA347231317	SPR	c.301G>T (p.Ala101Ser) n.352G>T	dbSNP gnomAD v4
2	g.72887733_72887745delinsGCGGGTAAGACCC	CA1260703487	SPR	c.301_304+9delinsGCGGGTAAGACCC n.352_355+9delinsGCGGGTAAGACCC
2	g.72887734C>A	CA347231319	SPR	c.302C>A (p.Ala101Glu) n.353C>A	gnomAD v4
2	g.72887734C=	CA1260703489	SPR	c.302C= (p.Ala101=) n.353C=
2	g.72887734C>G	CA347231320	SPR	c.302C>G (p.Ala101Gly) n.353C>G	gnomAD v4
2	g.72887734C>T	CA347231318	SPR	c.302C>T (p.Ala101Val) n.353C>T	dbSNP gnomAD v2 gnomAD v4
2	g.72887738_72887749del	CA1260703488	SPR	c.304+2_304+13del n.355+2_355+13del	ClinVar dbSNP gnomAD v4
2	g.72887735G>A	CA426703362	SPR	c.303G>A (p.Ala101=) n.354G>A	gnomAD v4
2	g.72887735G>C	CA426703363	SPR	c.303G>C (p.Ala101=) n.354G>C	gnomAD v4
2	g.72887735G>T	CA426703364	SPR	c.303G>T (p.Ala101=) n.354G>T	gnomAD v4
2	g.72887737del	CA2659569256	SPR	c.304+1del n.355+1del	gnomAD v4
2	g.72887736G>A	CA347231322	SPR	c.304G>A (p.Gly102Ser) n.355G>A	dbSNP gnomAD v2 gnomAD v4
2	g.72887736G>C	CA347231321	SPR	c.304G>C (p.Gly102Arg) n.355G>C
2	g.72887736G=	CA1260703490	SPR	c.304G= (p.Gly102=) n.355G=
2	g.72887736G>T	CA129898	SPR	c.304G>T (p.Gly102Cys) n.355G>T	ClinVar dbSNP gnomAD v4

Number of alleles fetched