Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.84031795_84031808delinsAAGACTCCCCTCAC	CA2238382145	SLC38A8	c.632+59_632+72delinsGTGAGGGGAGTCTT (n.632+59_632+72delinsGTGAGGGGAGTCTT)
16	g.84031806_84031818dup	CA2634582690	SLC38A8	c.632+59_632+71dup (n.632+59_632+71dup)	gnomAD v4
16	g.84031806_84031818del	CA725007630	SLC38A8	c.632+59_632+71del (n.632+59_632+71del)	dbSNP gnomAD v3 gnomAD v4
16	g.84031804dup	CA2634582695	SLC38A8	c.632+66dup (n.632+66dup)	gnomAD v4
16	g.84031802C>A	CA2634582697	SLC38A8	c.632+65G>T (n.632+65G>T)	gnomAD v4
16	g.84031802C>T	CA2576121093	SLC38A8	c.632+65G>A (n.632+65G>A)
16	g.84031803C>A	CA2634582698	SLC38A8	c.632+64G>T (n.632+64G>T)	gnomAD v4
16	g.84031804C=	CA2238382149	SLC38A8	c.632+63G= (n.632+63G=)
16	g.84031804C>G	CA2238382150	SLC38A8	c.632+63G>C (n.632+63G>C)	dbSNP gnomAD v4
16	g.84031804C>T	CA979905353	SLC38A8	c.632+63G>A (n.632+63G>A)	dbSNP gnomAD v3 gnomAD v4
16	g.84031805T>A	CA2634582699	SLC38A8	c.632+62A>T (n.632+62A>T)	gnomAD v4
16	g.84031805T>C	CA979905354	SLC38A8	c.632+62A>G (n.632+62A>G)	dbSNP gnomAD v3 gnomAD v4
16	g.84031805T>G	CA2634582700	SLC38A8	c.632+62A>C (n.632+62A>C)	gnomAD v4
16	g.84031805T=	CA2238382151	SLC38A8	c.632+62A= (n.632+62A=)
16	g.84031806C>A	CA2634582701	SLC38A8	c.632+61G>T (n.632+61G>T)	gnomAD v4
16	g.84031806C=	CA2238382152	SLC38A8	c.632+61G= (n.632+61G=)
16	g.84031806C>G	CA2238382153	SLC38A8	c.632+61G>C (n.632+61G>C)	dbSNP
16	g.84031806C>T	CA623841681	SLC38A8	c.632+61G>A (n.632+61G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031807A>G	CA2576121094	SLC38A8	c.632+60T>C (n.632+60T>C)	dbSNP
16	g.84031808C=	CA2238382154	SLC38A8	c.632+59G= (n.632+59G=)
16	g.84031808C>G	CA979905355	SLC38A8	c.632+59G>C (n.632+59G>C)	dbSNP gnomAD v3 gnomAD v4
16	g.84031809A=	CA2238382155	SLC38A8	c.632+58T= (n.632+58T=)
16	g.84031809A>C	CA2238382156	SLC38A8	c.632+58T>G (n.632+58T>G)	dbSNP
16	g.84031810G>A	CA285456896	SLC38A8	c.632+57C>T (n.632+57C>T)	dbSNP gnomAD v3 gnomAD v4
16	g.84031810G=	CA2238382157	SLC38A8	c.632+57C= (n.632+57C=)
16	g.84031810G>T	CA2634582702	SLC38A8	c.632+57C>A (n.632+57C>A)	gnomAD v4
16	g.84031811A=	CA2238382158	SLC38A8	c.632+56T= (n.632+56T=)
16	g.84031811A>G	CA725007639	SLC38A8	c.632+56T>C (n.632+56T>C)	dbSNP gnomAD v3 gnomAD v4
16	g.84031812C>A	CA2238382160	SLC38A8	c.632+55G>T (n.632+55G>T)	dbSNP gnomAD v4
16	g.84031812C=	CA2238382159	SLC38A8	c.632+55G= (n.632+55G=)
16	g.84031812C>G	CA285456912	SLC38A8	c.632+55G>C (n.632+55G>C)	dbSNP gnomAD v4
16	g.84031812C>T	CA2238382161	SLC38A8	c.632+55G>A (n.632+55G>A)	dbSNP gnomAD v4
16	g.84031813T>C	CA2634582703	SLC38A8	c.632+54A>G (n.632+54A>G)	gnomAD v4
16	g.84031814C>A	CA14254967	SLC38A8	c.632+53G>T (n.632+53G>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031814C=	CA2238382162	SLC38A8	c.632+53G= (n.632+53G=)
16	g.84031814C>G	CA2634582706	SLC38A8	c.632+53G>C (n.632+53G>C)	gnomAD v4
16	g.84031814C>T	CA2634582707	SLC38A8	c.632+53G>A (n.632+53G>A)	gnomAD v4
16	g.84031817dup	CA2634582704	SLC38A8	c.632+53dup (n.632+53dup)	gnomAD v4
16	g.84031817del	CA2634582705	SLC38A8	c.632+53del (n.632+53del)	gnomAD v4
16	g.84031816C>A	CA2576121095	SLC38A8	c.632+51G>T (n.632+51G>T)
16	g.84031816C>T	CA2634582708	SLC38A8	c.632+51G>A (n.632+51G>A)	gnomAD v4
16	g.84031817C>A	CA2634582709	SLC38A8	c.632+50G>T (n.632+50G>T)	gnomAD v4
16	g.84031817C=	CA2238382163	SLC38A8	c.632+50G= (n.632+50G=)
16	g.84031817C>G	CA623841682	SLC38A8	c.632+50G>C (n.632+50G>C)	dbSNP gnomAD v2 gnomAD v4
16	g.84031817C>T	CA8200135	SLC38A8	c.632+50G>A (n.632+50G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.84031818T>C	CA2238382166	SLC38A8	c.632+49A>G (n.632+49A>G)	dbSNP gnomAD v4
16	g.84031818T>G	CA2634582710	SLC38A8	c.632+49A>C (n.632+49A>C)	gnomAD v4
16	g.84031818T=	CA2238382165	SLC38A8	c.632+49A= (n.632+49A=)
16	g.84031818_84031831delinsTGCCGTGCCTCCCC	CA2238382164	SLC38A8	c.632+36_632+49delinsGGGGAGGCACGGCA (n.632+36_632+49delinsGGGGAGGCACGGCA)
16	g.84031819G>A	CA285456920	SLC38A8	c.632+48C>T (n.632+48C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031819G=	CA2238382167	SLC38A8	c.632+48C= (n.632+48C=)
16	g.84031819G>T	CA2576121096	SLC38A8	c.632+48C>A (n.632+48C>A)	gnomAD v4
16	g.84031823_84031835dup	CA8200137	SLC38A8	c.632+36_632+48dup (n.632+36_632+48dup)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.84031823_84031835del	CA8200136	SLC38A8	c.632+36_632+48del (n.632+36_632+48del)	dbSNP ExAC gnomAD v2
16	g.84031820C>A	CA8200138	SLC38A8	c.632+47G>T (n.632+47G>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031820C=	CA2238382168	SLC38A8	c.632+47G= (n.632+47G=)
16	g.84031820C>T	CA2576121097	SLC38A8	c.632+47G>A (n.632+47G>A)	gnomAD v4
16	g.84031821dup	CA623841683	SLC38A8	c.632+47dup (n.632+47dup)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031821C>A	CA2238382170	SLC38A8	c.632+46G>T (n.632+46G>T)	dbSNP gnomAD v4
16	g.84031821C=	CA2238382169	SLC38A8	c.632+46G= (n.632+46G=)
16	g.84031821C>G	CA725007650	SLC38A8	c.632+46G>C (n.632+46G>C)	dbSNP gnomAD v3 gnomAD v4
16	g.84031821C>T	CA8200140	SLC38A8	c.632+46G>A (n.632+46G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031822G>A	CA623841684	SLC38A8	c.632+45C>T (n.632+45C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031822G=	CA2238382171	SLC38A8	c.632+45C= (n.632+45C=)
16	g.84031822_84031827dup	CA8200139	SLC38A8	c.632+40_632+45dup (n.632+40_632+45dup)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.84031823T>C	CA2732889546	SLC38A8	c.632+44A>G (n.632+44A>G)	dbSNP
16	g.84031823T>G	CA2634582711	SLC38A8	c.632+44A>C (n.632+44A>C)	gnomAD v4
16	g.84031824G>A	CA2634582712	SLC38A8	c.632+43C>T (n.632+43C>T)	gnomAD v4
16	g.84031824G>T	CA2576121098	SLC38A8	c.632+43C>A (n.632+43C>A)	gnomAD v4
16	g.84031825C>T	CA2576121099	SLC38A8	c.632+42G>A (n.632+42G>A)	gnomAD v4
16	g.84031826C=	CA2238382172	SLC38A8	c.632+41G= (n.632+41G=)
16	g.84031826C>G	CA2576121100	SLC38A8	c.632+41G>C (n.632+41G>C)	gnomAD v4
16	g.84031826C>T	CA285456940	SLC38A8	c.632+41G>A (n.632+41G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031827T>C	CA8200141	SLC38A8	c.632+40A>G (n.632+40A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031827T=	CA2238382173	SLC38A8	c.632+40A= (n.632+40A=)
16	g.84031828C>A	CA979905360	SLC38A8	c.632+39G>T (n.632+39G>T)	dbSNP gnomAD v3 gnomAD v4
16	g.84031828C=	CA2238382174	SLC38A8	c.632+39G= (n.632+39G=)
16	g.84031828C>T	CA623841685	SLC38A8	c.632+39G>A (n.632+39G>A)	dbSNP gnomAD v2 gnomAD v4
16	g.84031829C=	CA2238382176	SLC38A8	c.632+38G= (n.632+38G=)
16	g.84031829C>G	CA2634582713	SLC38A8	c.632+38G>C (n.632+38G>C)	gnomAD v4
16	g.84031829C>T	CA285456961	SLC38A8	c.632+38G>A (n.632+38G>A)	dbSNP gnomAD v4
16	g.84031829_84031832delinsCCCG	CA2238382175	SLC38A8	c.632+35_632+38delinsCGGG (n.632+35_632+38delinsCGGG)
16	g.84031830C=	CA2238382177	SLC38A8	c.632+37G= (n.632+37G=)
16	g.84031830C>T	CA8200143	SLC38A8	c.632+37G>A (n.632+37G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031833_84031835del	CA8200142	SLC38A8	c.632+35_632+37del (n.632+35_632+37del)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.84031831C>A	CA8200144	SLC38A8	c.632+36G>T (n.632+36G>T)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.84031831C=	CA2238382178	SLC38A8	c.632+36G= (n.632+36G=)
16	g.84031831C>G	CA623841686	SLC38A8	c.632+36G>C (n.632+36G>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031831C>T	CA8200145	SLC38A8	c.632+36G>A (n.632+36G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031832G>A	CA8200147	SLC38A8	c.632+35C>T (n.632+35C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031832G=	CA2238382179	SLC38A8	c.632+35C= (n.632+35C=)
16	g.84031832G>T	CA8200146	SLC38A8	c.632+35C>A (n.632+35C>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031833C>A	CA2634582714	SLC38A8	c.632+34G>T (n.632+34G>T)	gnomAD v4
16	g.84031834C>A	CA8200148	SLC38A8	c.632+33G>T (n.632+33G>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031834C=	CA2238382180	SLC38A8	c.632+33G= (n.632+33G=)
16	g.84031834C>G	CA2634582715	SLC38A8	c.632+33G>C (n.632+33G>C)	gnomAD v4
16	g.84031834C>T	CA8200149	SLC38A8	c.632+33G>A (n.632+33G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031835G>A	CA8200150	SLC38A8	c.632+32C>T (n.632+32C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031835G>C	CA2634582716	SLC38A8	c.632+32C>G (n.632+32C>G)	gnomAD v4
16	g.84031835G=	CA2238382181	SLC38A8	c.632+32C= (n.632+32C=)
16	g.84031835G>T	CA2576121101	SLC38A8	c.632+32C>A (n.632+32C>A)
16	g.84031836A>C	CA2576121102	SLC38A8	c.632+31T>G (n.632+31T>G)
16	g.84031836A>G	CA2732889548	SLC38A8	c.632+31T>C (n.632+31T>C)	dbSNP
16	g.84031837G>A	CA623841687	SLC38A8	c.632+30C>T (n.632+30C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031837G>C	CA2634582717	SLC38A8	c.632+30C>G (n.632+30C>G)	gnomAD v4
16	g.84031837G=	CA2238382182	SLC38A8	c.632+30C= (n.632+30C=)
16	g.84031838G>A	CA285456991	SLC38A8	c.632+29C>T (n.632+29C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031838G=	CA2238382183	SLC38A8	c.632+29C= (n.632+29C=)
16	g.84031838G>T	CA8200151	SLC38A8	c.632+29C>A (n.632+29C>A)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.84031840T>G	CA8200152	SLC38A8	c.632+27A>C (n.632+27A>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031840T=	CA2238382184	SLC38A8	c.632+27A= (n.632+27A=)
16	g.84031841G>A	CA8200153	SLC38A8	c.632+26C>T (n.632+26C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031841G=	CA2238382185	SLC38A8	c.632+26C= (n.632+26C=)
16	g.84031841G>T	CA8200154	SLC38A8	c.632+26C>A (n.632+26C>A)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.84031842C>A	CA285457030	SLC38A8	c.632+25G>T (n.632+25G>T)	dbSNP gnomAD v4
16	g.84031842C=	CA2238382186	SLC38A8	c.632+25G= (n.632+25G=)
16	g.84031842C>T	CA979905363	SLC38A8	c.632+25G>A (n.632+25G>A)	dbSNP gnomAD v3 gnomAD v4
16	g.84031843C>A	CA2634582718	SLC38A8	c.632+24G>T (n.632+24G>T)	gnomAD v4
16	g.84031843C=	CA2238382187	SLC38A8	c.632+24G= (n.632+24G=)
16	g.84031843C>G	CA623841688	SLC38A8	c.632+24G>C (n.632+24G>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031843C>T	CA8200155	SLC38A8	c.632+24G>A (n.632+24G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031844G>A	CA8200156	SLC38A8	c.632+23C>T (n.632+23C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031844G=	CA2238382188	SLC38A8	c.632+23C= (n.632+23C=)
16	g.84031844G>T	CA2634582719	SLC38A8	c.632+23C>A (n.632+23C>A)	gnomAD v4
16	g.84031845G>A	CA623841689	SLC38A8	c.632+22C>T (n.632+22C>T)	dbSNP gnomAD v2 gnomAD v4
16	g.84031845G=	CA2238382189	SLC38A8	c.632+22C= (n.632+22C=)
16	g.84031846A>T	CA2576121103	SLC38A8	c.632+21T>A (n.632+21T>A)
16	g.84031848G>A	CA8200157	SLC38A8	c.632+19C>T (n.632+19C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031848G=	CA2238382190	SLC38A8	c.632+19C= (n.632+19C=)
16	g.84031848G>T	CA2634582720	SLC38A8	c.632+19C>A (n.632+19C>A)	gnomAD v4
16	g.84031849C>T	CA2576121104	SLC38A8	c.632+18G>A (n.632+18G>A)	ClinVar gnomAD v4
16	g.84031850T>C	CA2634582721	SLC38A8	c.632+17A>G (n.632+17A>G)	gnomAD v4
16	g.84031851G>A	CA8200159	SLC38A8	c.632+16C>T (n.632+16C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.84031851G>C	CA8200158	SLC38A8	c.632+16C>G (n.632+16C>G)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.84031851G=	CA2238382191	SLC38A8	c.632+16C= (n.632+16C=)
16	g.84031854C>A	CA2697555979	SLC38A8	c.632+13G>T (n.632+13G>T)	ClinVar
16	g.84031854C=	CA2238382192	SLC38A8	c.632+13G= (n.632+13G=)
16	g.84031854C>G	CA2739266923	SLC38A8	c.632+13G>C (n.632+13G>C)	ClinVar
16	g.84031854C>T	CA623841690	SLC38A8	c.632+13G>A (n.632+13G>A)	dbSNP gnomAD v2 gnomAD v4
16	g.84031855C=	CA2238382193	SLC38A8	c.632+12G= (n.632+12G=)
16	g.84031855C>G	CA979905365	SLC38A8	c.632+12G>C (n.632+12G>C)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.84031855C>T	CA2634582722	SLC38A8	c.632+12G>A (n.632+12G>A)	gnomAD v4
16	g.84031856C=	CA2238382194	SLC38A8	c.632+11G= (n.632+11G=)
16	g.84031856C>G	CA2634582723	SLC38A8	c.632+11G>C (n.632+11G>C)	gnomAD v4
16	g.84031856C>T	CA2238382195	SLC38A8	c.632+11G>A (n.632+11G>A)	dbSNP
16	g.84031857T>C	CA2634582724	SLC38A8	c.632+10A>G (n.632+10A>G)	gnomAD v4
16	g.84031859A=	CA2238382196	SLC38A8	c.632+8T= (n.632+8T=)
16	g.84031859A>C	CA2634582725	SLC38A8	c.632+8T>G (n.632+8T>G)	ClinVar gnomAD v4
16	g.84031859A>G	CA623841691	SLC38A8	c.632+8T>C (n.632+8T>C)	dbSNP gnomAD v2 gnomAD v4
16	g.84031860G>A	CA285457053	SLC38A8	c.632+7C>T (n.632+7C>T)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031860G>C	CA725007707	SLC38A8	c.632+7C>G (n.632+7C>G)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.84031860G=	CA2238382197	SLC38A8	c.632+7C= (n.632+7C=)
16	g.84031860G>T	CA623841692	SLC38A8	c.632+7C>A (n.632+7C>A)	dbSNP gnomAD v2 gnomAD v4
16	g.84031862C>A	CA623841693	SLC38A8	c.632+5G>T (n.632+5G>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031862C=	CA2238382198	SLC38A8	c.632+5G= (n.632+5G=)
16	g.84031862C>G	CA2576121105	SLC38A8	c.632+5G>C (n.632+5G>C)	gnomAD v4
16	g.84031862C>T	CA2634582726	SLC38A8	c.632+5G>A (n.632+5G>A)	gnomAD v4
16	g.84031863T>A	CA8200160	SLC38A8	c.632+4A>T (n.632+4A>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031863T=	CA2238382199	SLC38A8	c.632+4A= (n.632+4A=)
16	g.84031864T>C	CA8200161	SLC38A8	c.632+3A>G (n.632+3A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031864T>G	CA2634582727	SLC38A8	c.632+3A>C (n.632+3A>C)	gnomAD v4
16	g.84031864T=	CA2238382200	SLC38A8	c.632+3A= (n.632+3A=)
16	g.84031865A=	CA2238382202	SLC38A8	c.632+2T= (n.632+2T=)
16	g.84031865A>C	CA396938302	SLC38A8	c.632+2T>G (n.632+2T>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031865A>G	CA396938298	SLC38A8	c.632+2T>C (n.632+2T>C)
16	g.84031865A>T	CA396938301	SLC38A8	c.632+2T>A (n.632+2T>A)
16	g.84031865_84031866delinsAC	CA2238382201	SLC38A8	c.632+1_632+2delinsGT (n.632+1_632+2delinsGT)
16	g.84031866_84031870del	CA2634582728	SLC38A8	c.630_632+2del	gnomAD v4
16	g.84031866C>A	CA396938305	SLC38A8	c.632+1G>T (n.632+1G>T)
16	g.84031866C=	CA2238382203	SLC38A8	c.632+1G= (n.632+1G=)
16	g.84031866C>G	CA396938306	SLC38A8	c.632+1G>C (n.632+1G>C)	gnomAD v4
16	g.84031866C>T	CA396938307	SLC38A8	c.632+1G>A (n.632+1G>A)	ClinVar dbSNP gnomAD v4
16	g.84031867del	CA8200162	SLC38A8	c.632+1del	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.84031867C>A	CA396938308	SLC38A8	c.632G>T (p.Ser211Ile)	COSMIC
16	g.84031867C=	CA2238382204	SLC38A8	c.632G= (p.Ser211=)
16	g.84031867C>G	CA396938309	SLC38A8	c.632G>C (p.Ser211Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031867C>T	CA396938310	SLC38A8	c.632G>A (p.Ser211Asn)	gnomAD v4
16	g.84031868T>A	CA396938321	SLC38A8	c.631A>T (p.Ser211Cys)
16	g.84031868T>C	CA396938332	SLC38A8	c.631A>G (p.Ser211Gly)
16	g.84031868T>G	CA396938337	SLC38A8	c.631A>C (p.Ser211Arg)	dbSNP gnomAD v3 gnomAD v4
16	g.84031868T=	CA2238382205	SLC38A8	c.631A= (p.Ser211=)
16	g.84031869C>A	CA496764397	SLC38A8	c.630G>T (p.Leu210=)
16	g.84031869C=	CA2238382206	SLC38A8	c.630G= (p.Leu210=)
16	g.84031869C>G	CA496764398	SLC38A8	c.630G>C (p.Leu210=)
16	g.84031869C>T	CA496764399	SLC38A8	c.630G>A (p.Leu210=)
16	g.84031869dup	CA623841694	SLC38A8	c.630dup (p.Ser211GlufsTer?)	dbSNP gnomAD v2 gnomAD v4
16	g.84031870A>C	CA396938344	SLC38A8	c.629T>G (p.Leu210Arg)
16	g.84031870A>G	CA396938351	SLC38A8	c.629T>C (p.Leu210Pro)
16	g.84031870A>T	CA396938353	SLC38A8	c.629T>A (p.Leu210Gln)
16	g.84031870dup	CA2238382207	SLC38A8	c.629dup (p.Ser211GlufsTer?)	dbSNP
16	g.84031871G>A	CA496764400	SLC38A8	c.628C>T (p.Leu210=)
16	g.84031871G>C	CA8200163	SLC38A8	c.628C>G (p.Leu210Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031871G=	CA2238382208	SLC38A8	c.628C= (p.Leu210=)
16	g.84031871G>T	CA396938358	SLC38A8	c.628C>A (p.Leu210Met)
16	g.84031872T>A	CA496764401	SLC38A8	c.627A>T (p.Ser209=)
16	g.84031872T>C	CA496764402	SLC38A8	c.627A>G (p.Ser209=)	dbSNP
16	g.84031872T>G	CA496764403	SLC38A8	c.627A>C (p.Ser209=)	gnomAD v4
16	g.84031872T=	CA2238382209	SLC38A8	c.627A= (p.Ser209=)
16	g.84031873G>A	CA396938364	SLC38A8	c.626C>T (p.Ser209Leu)	dbSNP gnomAD v2 gnomAD v4
16	g.84031873G>C	CA396938365	SLC38A8	c.626C>G (p.Ser209Ter)	dbSNP gnomAD v2 gnomAD v4
16	g.84031873G=	CA2238382210	SLC38A8	c.626C= (p.Ser209=)
16	g.84031873G>T	CA396938366	SLC38A8	c.626C>A (p.Ser209Ter)
16	g.84031874A>C	CA396938367	SLC38A8	c.625T>G (p.Ser209Ala)
16	g.84031874A>G	CA396938368	SLC38A8	c.625T>C (p.Ser209Pro)
16	g.84031874A>T	CA396938369	SLC38A8	c.625T>A (p.Ser209Thr)
16	g.84031875A>C	CA496764405	SLC38A8	c.624T>G (p.Pro208=)
16	g.84031875A>G	CA496764406	SLC38A8	c.624T>C (p.Pro208=)	ClinVar
16	g.84031875A>T	CA496764404	SLC38A8	c.624T>A (p.Pro208=)
16	g.84031876G>A	CA8200164	SLC38A8	c.623C>T (p.Pro208Leu)	dbSNP ExAC gnomAD v2 COSMIC
16	g.84031876G>C	CA396938370	SLC38A8	c.623C>G (p.Pro208Arg)	gnomAD v4
16	g.84031876G=	CA2238382211	SLC38A8	c.623C= (p.Pro208=)
16	g.84031876G>T	CA396938371	SLC38A8	c.623C>A (p.Pro208His)
16	g.84031877G>A	CA396938374	SLC38A8	c.622C>T (p.Pro208Ser)
16	g.84031877G>C	CA396938375	SLC38A8	c.622C>G (p.Pro208Ala)
16	g.84031877G>T	CA396938378	SLC38A8	c.622C>A (p.Pro208Thr)	gnomAD v4
16	g.84031878del	CA2634582729	SLC38A8	c.621del (p.Pro208LeufsTer3)	dbSNP gnomAD v4
16	g.84031878A>C	CA396938381	SLC38A8	c.621T>G (p.His207Gln)
16	g.84031878A>G	CA496764407	SLC38A8	c.621T>C (p.His207=)	gnomAD v4
16	g.84031878A>T	CA396938383	SLC38A8	c.621T>A (p.His207Gln)
16	g.84031879T>A	CA396938387	SLC38A8	c.620A>T (p.His207Leu)
16	g.84031879T>C	CA396938406	SLC38A8	c.620A>G (p.His207Arg)	gnomAD v4
16	g.84031879T>G	CA396938403	SLC38A8	c.620A>C (p.His207Pro)
16	g.84031880G>A	CA8200165	SLC38A8	c.619C>T (p.His207Tyr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031880G>C	CA396938412	SLC38A8	c.619C>G (p.His207Asp)	dbSNP gnomAD v4
16	g.84031880G=	CA2238382212	SLC38A8	c.619C= (p.His207=)
16	g.84031880G>T	CA396938420	SLC38A8	c.619C>A (p.His207Asn)
16	g.84031881G>A	CA496764410	SLC38A8	c.618C>T (p.Ser206=)	gnomAD v4
16	g.84031881G>C	CA496764409	SLC38A8	c.618C>G (p.Ser206=)
16	g.84031881G=	CA2238382213	SLC38A8	c.618C= (p.Ser206=)
16	g.84031881G>T	CA496764408	SLC38A8	c.618C>A (p.Ser206=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031882G>A	CA396938422	SLC38A8	c.617C>T (p.Ser206Phe)
16	g.84031882G>C	CA8200166	SLC38A8	c.617C>G (p.Ser206Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031882G=	CA2238382214	SLC38A8	c.617C= (p.Ser206=)
16	g.84031882G>T	CA396938431	SLC38A8	c.617C>A (p.Ser206Tyr)
16	g.84031883A>C	CA396938434	SLC38A8	c.616T>G (p.Ser206Ala)
16	g.84031883A>G	CA396938435	SLC38A8	c.616T>C (p.Ser206Pro)
16	g.84031883A>T	CA396938438	SLC38A8	c.616T>A (p.Ser206Thr)
16	g.84031884C>A	CA396938440	SLC38A8	c.615G>T (p.Glu205Asp)	gnomAD v4
16	g.84031884C>G	CA396938443	SLC38A8	c.615G>C (p.Glu205Asp)
16	g.84031884C>T	CA496764411	SLC38A8	c.615G>A (p.Glu205=)	gnomAD v4
16	g.84031885T>A	CA396938450	SLC38A8	c.614A>T (p.Glu205Val)
16	g.84031885T>C	CA396938446	SLC38A8	c.614A>G (p.Glu205Gly)
16	g.84031885T>G	CA396938448	SLC38A8	c.614A>C (p.Glu205Ala)
16	g.84031886C>A	CA396938456	SLC38A8	c.613G>T (p.Glu205Ter)	dbSNP gnomAD v2
16	g.84031886C=	CA2238382215	SLC38A8	c.613G= (p.Glu205=)
16	g.84031886C>G	CA396938460	SLC38A8	c.613G>C (p.Glu205Gln)	gnomAD v4
16	g.84031886C>T	CA396938459	SLC38A8	c.613G>A (p.Glu205Lys)
16	g.84031887A=	CA2238382216	SLC38A8	c.612T= (p.Arg204=)
16	g.84031887A>C	CA496764412	SLC38A8	c.612T>G (p.Arg204=)	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.84031887A>G	CA496764413	SLC38A8	c.612T>C (p.Arg204=)	dbSNP gnomAD v2 gnomAD v4
16	g.84031887A>T	CA496764414	SLC38A8	c.612T>A (p.Arg204=)
16	g.84031888C>A	CA396938462	SLC38A8	c.611G>T (p.Arg204Leu)
16	g.84031888C=	CA2238382217	SLC38A8	c.611G= (p.Arg204=)
16	g.84031888C>G	CA8200168	SLC38A8	c.611G>C (p.Arg204Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.84031888C>T	CA8200167	SLC38A8	c.611G>A (p.Arg204His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031889G>A	CA8200169	SLC38A8	c.610C>T (p.Arg204Cys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.84031889G>C	CA396938465	SLC38A8	c.610C>G (p.Arg204Gly)	dbSNP
16	g.84031889G=	CA2238382218	SLC38A8	c.610C= (p.Arg204=)
16	g.84031889G>T	CA396938466	SLC38A8	c.610C>A (p.Arg204Ser)
16	g.84031890C>A	CA496764415	SLC38A8	c.609G>T (p.Val203=)
16	g.84031890C>G	CA496764416	SLC38A8	c.609G>C (p.Val203=)
16	g.84031890C>T	CA496764417	SLC38A8	c.609G>A (p.Val203=)
16	g.84031891A=	CA2238382219	SLC38A8	c.608T= (p.Val203=)
16	g.84031891A>C	CA396938478	SLC38A8	c.608T>G (p.Val203Gly)	dbSNP gnomAD v2 gnomAD v4
16	g.84031891A>G	CA396938467	SLC38A8	c.608T>C (p.Val203Ala)
16	g.84031891A>T	CA396938468	SLC38A8	c.608T>A (p.Val203Glu)
16	g.84031892C>A	CA396938480	SLC38A8	c.607G>T (p.Val203Leu)
16	g.84031892C=	CA2238382220	SLC38A8	c.607G= (p.Val203=)
16	g.84031892C>G	CA285457083	SLC38A8	c.607G>C (p.Val203Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031892C>T	CA8200170	SLC38A8	c.607G>A (p.Val203Met)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031893G>A	CA8200171	SLC38A8	c.606C>T (p.Leu202=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031893G>C	CA8200172	SLC38A8	c.606C>G (p.Leu202=)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.84031893G=	CA2238382221	SLC38A8	c.606C= (p.Leu202=)
16	g.84031893G>T	CA496764418	SLC38A8	c.606C>A (p.Leu202=)
16	g.84031894A=	CA2238382222	SLC38A8	c.605T= (p.Leu202=)
16	g.84031894A>C	CA396938498	SLC38A8	c.605T>G (p.Leu202Arg)
16	g.84031894A>G	CA396938493	SLC38A8	c.605T>C (p.Leu202Pro)	dbSNP
16	g.84031894A>T	CA396938495	SLC38A8	c.605T>A (p.Leu202His)
16	g.84031895G>A	CA285457094	SLC38A8	c.604C>T (p.Leu202Phe)	dbSNP
16	g.84031895G>C	CA8200173	SLC38A8	c.604C>G (p.Leu202Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031895G=	CA2238382223	SLC38A8	c.604C= (p.Leu202=)
16	g.84031895G>T	CA396938506	SLC38A8	c.604C>A (p.Leu202Ile)
16	g.84031896G>A	CA8200174	SLC38A8	c.603C>T (p.Gly201=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.84031896G>C	CA496764420	SLC38A8	c.603C>G (p.Gly201=)
16	g.84031896G=	CA2238382224	SLC38A8	c.603C= (p.Gly201=)
16	g.84031896G>T	CA496764419	SLC38A8	c.603C>A (p.Gly201=)	gnomAD v4
16	g.84031897C>A	CA396938509	SLC38A8	c.602G>T (p.Gly201Val)
16	g.84031897C>G	CA396938512	SLC38A8	c.602G>C (p.Gly201Ala)
16	g.84031897C>T	CA396938513	SLC38A8	c.602G>A (p.Gly201Asp)	gnomAD v4
16	g.84031898C>A	CA285457104	SLC38A8	c.601G>T (p.Gly201Cys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031898C=	CA2238382225	SLC38A8	c.601G= (p.Gly201=)
16	g.84031898C>G	CA396938516	SLC38A8	c.601G>C (p.Gly201Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031898C>T	CA396938517	SLC38A8	c.601G>A (p.Gly201Ser)
16	g.84031899C>A	CA396938524	SLC38A8	c.600G>T (p.Gln200His)
16	g.84031899C>G	CA396938526	SLC38A8	c.600G>C (p.Gln200His)	gnomAD v4
16	g.84031899C>T	CA496764421	SLC38A8	c.600G>A (p.Gln200=)
16	g.84031900T>A	CA396938528	SLC38A8	c.599A>T (p.Gln200Leu)
16	g.84031900T>C	CA396938532	SLC38A8	c.599A>G (p.Gln200Arg)
16	g.84031900T>G	CA396938530	SLC38A8	c.599A>C (p.Gln200Pro)	dbSNP gnomAD v2 gnomAD v4
16	g.84031900T=	CA2238382226	SLC38A8	c.599A= (p.Gln200=)
16	g.84031901G>A	CA150839	SLC38A8	c.598C>T (p.Gln200Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031901G>C	CA396938537	SLC38A8	c.598C>G (p.Gln200Glu)	gnomAD v4
16	g.84031901G=	CA2238382227	SLC38A8	c.598C= (p.Gln200=)
16	g.84031901G>T	CA396938539	SLC38A8	c.598C>A (p.Gln200Lys)
16	g.84031904del	CA2634582730	SLC38A8	c.598del (p.Gln200ArgfsTer11)	gnomAD v4
16	g.84031902G>A	CA8200175	SLC38A8	c.597C>T (p.Pro199=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.84031902G>C	CA496764423	SLC38A8	c.597C>G (p.Pro199=)	gnomAD v4
16	g.84031902G=	CA2238382228	SLC38A8	c.597C= (p.Pro199=)
16	g.84031902G>T	CA496764422	SLC38A8	c.597C>A (p.Pro199=)

Number of alleles fetched