Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.240868866_240871449del	CA2741808836	AGXT	c.1_524del n.21_544del	ClinVar
2	g.240868898dup	CA345700	AGXT	c.33dup (p.Lys12GlnfsTer?) n.53dup n.405+1342dup	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.240868897_240868898dup	CA2664004508	AGXT	c.32_33dup (p.Lys12ProfsTer?) n.52_53dup n.405+1341_405+1342dup	gnomAD v4
2	g.240868898del	CA273942	AGXT	c.33del (p.Lys12ArgfsTer?) n.53del n.405+1342del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.240868897_240868898del	CA275814	AGXT	c.32_33del (p.Pro11GlnfsTer?) n.52_53del n.405+1341_405+1342del	ClinVar dbSNP
2	g.240868895C>A	CA432234740	AGXT	c.30C>A (p.Pro10=) n.50C>A n.405+1338G>T
2	g.240868895C>G	CA432234741	AGXT	c.30C>G (p.Pro10=) n.50C>G n.405+1338G>C
2	g.240868895C>T	CA432234742	AGXT	c.30C>T (p.Pro10=) n.50C>T n.405+1338G>A
2	g.240868896C>A	CA2208967	AGXT	c.31C>A (p.Pro11Thr) n.51C>A n.405+1337G>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240868896C=	CA1339330750	AGXT	c.31C= (p.Pro11=) n.51C= n.405+1337G=
2	g.240868896C>G	CA2208966	AGXT	c.31C>G (p.Pro11Ala) n.51C>G n.405+1337G>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.240868896C>T	CA2208968	AGXT	c.31C>T (p.Pro11Ser) n.51C>T n.405+1337G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240868896_240868897insT	CA2573135690	AGXT	c.31_32insT (p.Pro11LeufsTer?) n.51_52insT n.405+1336_405+1337insA	ClinVar dbSNP
2	g.240868897C>A	CA275544	AGXT	c.32C>A (p.Pro11His) n.52C>A n.405+1336G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240868897C=	CA1339330751	AGXT	c.32C= (p.Pro11=) n.52C= n.405+1336G=
2	g.240868897C>G	CA275621	AGXT	c.32C>G (p.Pro11Arg) n.52C>G n.405+1336G>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240868897C>T	CA200272	AGXT	c.32C>T (p.Pro11Leu) n.52C>T n.405+1336G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.[240868897C>T;240875994T>C]	CA2742038352	AGXT	c.[32C>T;836T>C] (p.[Pro11Leu;Ile279Thr])	ClinVar
2	g.240868897_240868898delinsTG	CA2499215811	AGXT	c.32_33delinsTG (p.Pro11Leu) n.52_53delinsTG n.405+1335_405+1336delinsCA	ClinVar dbSNP
2	g.240868897_240868898delinsTT	CA2740096543	AGXT	c.32_33delinsTT (p.Pro11Leu) n.52_53delinsTT n.405+1335_405+1336delinsAA	ClinVar
2	g.240868897_240868898insT	CA2664004635	AGXT	c.32_33insT (p.Lys12GlnfsTer?) n.52_53insT n.405+1335_405+1336insA	ClinVar gnomAD v4
2	g.240868898C>A	CA432234746	AGXT	c.33C>A (p.Pro11=) n.53C>A n.405+1335G>T	ClinVar dbSNP gnomAD v4
2	g.240868898C=	CA1339330752	AGXT	c.33C= (p.Pro11=) n.53C= n.405+1335G=
2	g.240868898C>G	CA432234747	AGXT	c.33C>G (p.Pro11=) n.53C>G n.405+1335G>C	ClinVar dbSNP gnomAD v2
2	g.240868898C>T	CA432234748	AGXT	c.33C>T (p.Pro11=) n.53C>T n.405+1335G>A	dbSNP gnomAD v2 gnomAD v4
2	g.240868899A>C	CA351312740	AGXT	c.34A>C (p.Lys12Gln) n.54A>C n.405+1334T>G	dbSNP
2	g.240868899A>G	CA351312742	AGXT	c.34A>G (p.Lys12Glu) n.54A>G n.405+1334T>C
2	g.240868899A>T	CA351312745	AGXT	c.34A>T (p.Lys12Ter) n.54A>T n.405+1334T>A
2	g.240868899_240868900dup	CA2586971628	AGXT	c.34_35dup (p.Ala13ArgfsTer?) n.54_55dup n.405+1333_405+1334dup	ClinVar
2	g.240868900del	CA2664004642	AGXT	c.35del (p.Lys12ArgfsTer?) n.55del n.405+1334del	gnomAD v4
2	g.240868899_240868900insCCAAACACACCCAACAC	CA2754891865	AGXT	c.34_35insCCAAACACACCCAACAC (p.Lys12ThrfsTer?) n.54_55insCCAAACACACCCAACAC n.405+1333_405+1334insGTGTTGGGTGTGTTTGG
2	g.240868900A=	CA1339330753	AGXT	c.35A= (p.Lys12=) n.55A= n.405+1333T=
2	g.240868900A>C	CA351312749	AGXT	c.35A>C (p.Lys12Thr) n.55A>C n.405+1333T>G
2	g.240868900A>G	CA275546	AGXT	c.35A>G (p.Lys12Arg) n.55A>G n.405+1333T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240868900A>T	CA351312753	AGXT	c.35A>T (p.Lys12Met) n.55A>T n.405+1333T>A
2	g.240868901G>A	CA432234751	AGXT	c.36G>A (p.Lys12=) n.56G>A n.405+1332C>T
2	g.240868901G>C	CA351312756	AGXT	c.36G>C (p.Lys12Asn) n.56G>C n.405+1332C>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240868901G=	CA1339330754	AGXT	c.36G= (p.Lys12=) n.56G= n.405+1332C=
2	g.240868901G>T	CA351312758	AGXT	c.36G>T (p.Lys12Asn) n.56G>T n.405+1332C>A
2	g.240868902G>A	CA351312761	AGXT	c.37G>A (p.Ala13Thr) n.57G>A n.405+1331C>T	gnomAD v4
2	g.240868902G>C	CA351312764	AGXT	c.37G>C (p.Ala13Pro) n.57G>C n.405+1331C>G	ClinVar
2	g.240868902G>T	CA351312766	AGXT	c.37G>T (p.Ala13Ser) n.57G>T n.405+1331C>A
2	g.240868903C>A	CA351312774	AGXT	c.38C>A (p.Ala13Asp) n.58C>A n.405+1330G>T
2	g.240868903C>G	CA351312769	AGXT	c.38C>G (p.Ala13Gly) n.58C>G n.405+1330G>C
2	g.240868903C>T	CA351312772	AGXT	c.38C>T (p.Ala13Val) n.58C>T n.405+1330G>A
2	g.240868905dup	CA2586971629	AGXT	c.40dup (p.Leu14ProfsTer?) n.60dup n.405+1330dup	ClinVar
2	g.240868904C>A	CA432234755	AGXT	c.39C>A (p.Ala13=) n.59C>A n.405+1329G>T
2	g.240868904C=	CA1339330755	AGXT	c.39C= (p.Ala13=) n.59C= n.405+1329G=
2	g.240868904C>G	CA432234757	AGXT	c.39C>G (p.Ala13=) n.59C>G n.405+1329G>C
2	g.240868904C>T	CA2208969	AGXT	c.39C>T (p.Ala13=) n.59C>T n.405+1329G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched