Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
10	g.30313748T>A	CA376434260	MTPAP	c.1610A>T (p.Asn537Ile) n.3365A>T	dbSNP gnomAD v3 gnomAD v4
10	g.30313748T>C	CA376434261	MTPAP	c.1610A>G (p.Asn537Ser) n.3365A>G	gnomAD v4
10	g.30313748T>G	CA376434266	MTPAP	c.1610A>C (p.Asn537Thr) n.3365A>C
10	g.30313748T=	CA1899313977	MTPAP	c.1610A= (p.Asn537=) n.3365A=
10	g.30313749T>A	CA376434269	MTPAP	c.1609A>T (p.Asn537Tyr) n.3364A>T
10	g.30313749T>C	CA376434273	MTPAP	c.1609A>G (p.Asn537Asp) n.3364A>G
10	g.30313749T>G	CA376434272	MTPAP	c.1609A>C (p.Asn537His) n.3364A>C
10	g.30313750T>A	CA468798043	MTPAP	c.1608A>T (p.Pro536=) n.3363A>T
10	g.30313750T>C	CA468798044	MTPAP	c.1608A>G (p.Pro536=) n.3363A>G	dbSNP gnomAD v4
10	g.30313750T>G	CA468798045	MTPAP	c.1608A>C (p.Pro536=) n.3363A>C
10	g.30313750T=	CA1899313978	MTPAP	c.1608A= (p.Pro536=) n.3363A=
10	g.30313751G>A	CA376434274	MTPAP	c.1607C>T (p.Pro536Leu) n.3362C>T	gnomAD v4
10	g.30313751G>C	CA5458918	MTPAP	c.1607C>G (p.Pro536Arg) n.3362C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.30313751G=	CA1899313979	MTPAP	c.1607C= (p.Pro536=) n.3362C=
10	g.30313751G>T	CA376434277	MTPAP	c.1607C>A (p.Pro536Gln) n.3362C>A
10	g.30313752G>A	CA376434279	MTPAP	c.1606C>T (p.Pro536Ser) n.3361C>T
10	g.30313752G>C	CA376434281	MTPAP	c.1606C>G (p.Pro536Ala) n.3361C>G	ClinVar dbSNP gnomAD v4
10	g.30313752G>T	CA376434283	MTPAP	c.1606C>A (p.Pro536Thr) n.3361C>A
10	g.30313753A>C	CA468798637	MTPAP	c.1605T>G (p.Ala535=) n.3360T>G
10	g.30313753A>G	CA468798638	MTPAP	c.1605T>C (p.Ala535=) n.3360T>C
10	g.30313753A>T	CA468798639	MTPAP	c.1605T>A (p.Ala535=) n.3360T>A
10	g.30313754G>A	CA376434285	MTPAP	c.1604C>T (p.Ala535Val) n.3359C>T
10	g.30313754G>C	CA376434288	MTPAP	c.1604C>G (p.Ala535Gly) n.3359C>G
10	g.30313754G>T	CA376434290	MTPAP	c.1604C>A (p.Ala535Asp) n.3359C>A
10	g.30313755C>A	CA376434291	MTPAP	c.1603G>T (p.Ala535Ser) n.3358G>T	gnomAD v4
10	g.30313755C>G	CA376434293	MTPAP	c.1603G>C (p.Ala535Pro) n.3358G>C	dbSNP
10	g.30313755C>T	CA376434295	MTPAP	c.1603G>A (p.Ala535Thr) n.3358G>A
10	g.30313756A>C	CA468798640	MTPAP	c.1602T>G (p.Ser534=) n.3357T>G
10	g.30313756A>G	CA468798641	MTPAP	c.1602T>C (p.Ser534=) n.3357T>C
10	g.30313756A>T	CA468798642	MTPAP	c.1602T>A (p.Ser534=) n.3357T>A
10	g.30313757G>A	CA376434296	MTPAP	c.1601C>T (p.Ser534Phe) n.3356C>T	gnomAD v4
10	g.30313757G>C	CA376434300	MTPAP	c.1601C>G (p.Ser534Cys) n.3356C>G	dbSNP
10	g.30313757G=	CA1899313980	MTPAP	c.1601C= (p.Ser534=) n.3356C=
10	g.30313757G>T	CA376434298	MTPAP	c.1601C>A (p.Ser534Tyr) n.3356C>A
10	g.30313758A=	CA1899313981	MTPAP	c.1600T= (p.Ser534=) n.3355T=
10	g.30313758A>C	CA376434303	MTPAP	c.1600T>G (p.Ser534Ala) n.3355T>G
10	g.30313758A>G	CA205300933	MTPAP	c.1600T>C (p.Ser534Pro) n.3355T>C	dbSNP
10	g.30313758A>T	CA376434305	MTPAP	c.1600T>A (p.Ser534Thr) n.3355T>A
10	g.30313759T>A	CA468798643	MTPAP	c.1599A>T (p.Pro533=) n.3354A>T
10	g.30313759T>C	CA205300948	MTPAP	c.1599A>G (p.Pro533=) n.3354A>G	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.30313759T>G	CA468798644	MTPAP	c.1599A>C (p.Pro533=) n.3354A>C
10	g.30313759T=	CA1899313982	MTPAP	c.1599A= (p.Pro533=) n.3354A=
10	g.30313760G>A	CA376434308	MTPAP	c.1598C>T (p.Pro533Leu) n.3353C>T
10	g.30313760G>C	CA376434310	MTPAP	c.1598C>G (p.Pro533Arg) n.3353C>G
10	g.30313760G=	CA1899313983	MTPAP	c.1598C= (p.Pro533=) n.3353C=
10	g.30313760G>T	CA205300949	MTPAP	c.1598C>A (p.Pro533Gln) n.3353C>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.30313761G>A	CA376434314	MTPAP	c.1597C>T (p.Pro533Ser) n.3352C>T	ClinVar
10	g.30313761G>C	CA376434316	MTPAP	c.1597C>G (p.Pro533Ala) n.3352C>G
10	g.30313761G>T	CA376434317	MTPAP	c.1597C>A (p.Pro533Thr) n.3352C>A
10	g.30313762T>A	CA468798645	MTPAP	c.1596A>T (p.Leu532=) n.3351A>T
10	g.30313762T>C	CA468798647	MTPAP	c.1596A>G (p.Leu532=) n.3351A>G	gnomAD v4
10	g.30313762T>G	CA468798646	MTPAP	c.1596A>C (p.Leu532=) n.3351A>C
10	g.30313763A>C	CA376434318	MTPAP	c.1595T>G (p.Leu532Arg) n.3350T>G
10	g.30313763A>G	CA376434319	MTPAP	c.1595T>C (p.Leu532Pro) n.3350T>C	gnomAD v4
10	g.30313763A>T	CA376434320	MTPAP	c.1595T>A (p.Leu532Gln) n.3350T>A
10	g.30313764G>A	CA468798648	MTPAP	c.1594C>T (p.Leu532=) n.3349C>T	gnomAD v4
10	g.30313764G>C	CA205300951	MTPAP	c.1594C>G (p.Leu532Val) n.3349C>G	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
10	g.30313764G=	CA1899313984	MTPAP	c.1594C= (p.Leu532=) n.3349C=
10	g.30313764G>T	CA376434321	MTPAP	c.1594C>A (p.Leu532Ile) n.3349C>A
10	g.30313765C>A	CA376434323	MTPAP	c.1593G>T (p.Leu531Phe) n.3348G>T
10	g.30313765C=	CA1899313985	MTPAP	c.1593G= (p.Leu531=) n.3348G=
10	g.30313765C>G	CA376434324	MTPAP	c.1593G>C (p.Leu531Phe) n.3348G>C	dbSNP
10	g.30313765C>T	CA468798649	MTPAP	c.1593G>A (p.Leu531=) n.3348G>A
10	g.30313765dup	CA2608695842	MTPAP	c.1593dup (p.Leu532AlafsTer17) n.3348dup	gnomAD v4
10	g.30313766A>C	CA376434326	MTPAP	c.1592T>G (p.Leu531Trp) n.3347T>G	gnomAD v4
10	g.30313766A>G	CA376434329	MTPAP	c.1592T>C (p.Leu531Ser) n.3347T>C
10	g.30313766A>T	CA376434331	MTPAP	c.1592T>A (p.Leu531Ter) n.3347T>A
10	g.30313767A>C	CA376434333	MTPAP	c.1591T>G (p.Leu531Val) n.3346T>G
10	g.30313767A>G	CA468798650	MTPAP	c.1591T>C (p.Leu531=) n.3346T>C
10	g.30313767A>T	CA376434335	MTPAP	c.1591T>A (p.Leu531Met) n.3346T>A
10	g.30313768T>A	CA468798651	MTPAP	c.1590A>T (p.Leu530=) n.3345A>T
10	g.30313768T>C	CA468798652	MTPAP	c.1590A>G (p.Leu530=) n.3345A>G
10	g.30313768T>G	CA468798653	MTPAP	c.1590A>C (p.Leu530=) n.3345A>C
10	g.30313769A>C	CA376434341	MTPAP	c.1589T>G (p.Leu530Arg) n.3344T>G
10	g.30313769A>G	CA376434343	MTPAP	c.1589T>C (p.Leu530Pro) n.3344T>C
10	g.30313769A>T	CA376434345	MTPAP	c.1589T>A (p.Leu530Gln) n.3344T>A
10	g.30313770G>A	CA468798654	MTPAP	c.1588C>T (p.Leu530=) n.3343C>T
10	g.30313770G>C	CA376434346	MTPAP	c.1588C>G (p.Leu530Val) n.3343C>G
10	g.30313770G=	CA1899313986	MTPAP	c.1588C= (p.Leu530=) n.3343C=
10	g.30313770G>T	CA376434348	MTPAP	c.1588C>A (p.Leu530Ile) n.3343C>A
10	g.30313771G>A	CA468798655	MTPAP	c.1587C>T (p.Ser529=) n.3342C>T	COSMIC COSMIC
10	g.30313771G>C	CA468798656	MTPAP	c.1587C>G (p.Ser529=) n.3342C>G	gnomAD v4
10	g.30313771G>T	CA468798657	MTPAP	c.1587C>A (p.Ser529=) n.3342C>A
10	g.30313771_30313774dup	CA592781532	MTPAP	c.1584_1587dup (p.Leu530IlefsTer20) n.3339_3342dup	dbSNP gnomAD v2 gnomAD v4
10	g.30313772G>A	CA376434350	MTPAP	c.1586C>T (p.Ser529Phe) n.3341C>T
10	g.30313772G>C	CA376434353	MTPAP	c.1586C>G (p.Ser529Cys) n.3341C>G
10	g.30313772G>T	CA376434352	MTPAP	c.1586C>A (p.Ser529Tyr) n.3341C>A
10	g.30313773A>C	CA376434355	MTPAP	c.1585T>G (p.Ser529Ala) n.3340T>G
10	g.30313773A>G	CA376434357	MTPAP	c.1585T>C (p.Ser529Pro) n.3340T>C
10	g.30313773A>T	CA376434359	MTPAP	c.1585T>A (p.Ser529Thr) n.3340T>A
10	g.30313774T>A	CA468798658	MTPAP	c.1584A>T (p.Val528=) n.3339A>T
10	g.30313774T>C	CA5458919	MTPAP	c.1584A>G (p.Val528=) n.3339A>G	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.30313774T>G	CA468798659	MTPAP	c.1584A>C (p.Val528=) n.3339A>C
10	g.30313774T=	CA1899313987	MTPAP	c.1584A= (p.Val528=) n.3339A=
10	g.30313775A>C	CA376434363	MTPAP	c.1583T>G (p.Val528Gly) n.3338T>G
10	g.30313775A>G	CA376434364	MTPAP	c.1583T>C (p.Val528Ala) n.3338T>C
10	g.30313775A>T	CA376434365	MTPAP	c.1583T>A (p.Val528Glu) n.3338T>A
10	g.30313776C>A	CA376434371	MTPAP	c.1582G>T (p.Val528Leu) n.3337G>T	dbSNP gnomAD v2
10	g.30313776C=	CA1899313988	MTPAP	c.1582G= (p.Val528=) n.3337G=
10	g.30313776C>G	CA376434368	MTPAP	c.1582G>C (p.Val528Leu) n.3337G>C	dbSNP gnomAD v2 gnomAD v4
10	g.30313776C>T	CA376434369	MTPAP	c.1582G>A (p.Val528Ile) n.3337G>A	dbSNP gnomAD v4
10	g.30313777C>A	CA468798660	MTPAP	c.1581G>T (p.Leu527=) n.3336G>T	dbSNP gnomAD v2
10	g.30313777C=	CA1899313989	MTPAP	c.1581G= (p.Leu527=) n.3336G=
10	g.30313777C>G	CA468798661	MTPAP	c.1581G>C (p.Leu527=) n.3336G>C
10	g.30313777C>T	CA468798662	MTPAP	c.1581G>A (p.Leu527=) n.3336G>A
10	g.30313778A>C	CA376434373	MTPAP	c.1580T>G (p.Leu527Arg) n.3335T>G
10	g.30313778A>G	CA376434375	MTPAP	c.1580T>C (p.Leu527Pro) n.3335T>C
10	g.30313778A>T	CA376434377	MTPAP	c.1580T>A (p.Leu527Gln) n.3335T>A
10	g.30313779G>A	CA468798663	MTPAP	c.1579C>T (p.Leu527=) n.3334C>T	gnomAD v4
10	g.30313779G>C	CA376434380	MTPAP	c.1579C>G (p.Leu527Val) n.3334C>G
10	g.30313779G>T	CA376434382	MTPAP	c.1579C>A (p.Leu527Met) n.3334C>A
10	g.30313780C>A	CA468798664	MTPAP	c.1578G>T (p.Gly526=) n.3333G>T	gnomAD v4
10	g.30313780C=	CA1899313990	MTPAP	c.1578G= (p.Gly526=) n.3333G=
10	g.30313780C>G	CA468798665	MTPAP	c.1578G>C (p.Gly526=) n.3333G>C	ClinVar
10	g.30313780C>T	CA5458920	MTPAP	c.1578G>A (p.Gly526=) n.3333G>A	dbSNP ExAC gnomAD v2
10	g.30313781C>A	CA376434386	MTPAP	c.1577G>T (p.Gly526Val) n.3332G>T
10	g.30313781C>G	CA376434389	MTPAP	c.1577G>C (p.Gly526Ala) n.3332G>C
10	g.30313781C>T	CA376434388	MTPAP	c.1577G>A (p.Gly526Glu) n.3332G>A
10	g.30313782C>A	CA376434396	MTPAP	c.1576G>T (p.Gly526Trp) n.3331G>T	gnomAD v4
10	g.30313782C>G	CA376434398	MTPAP	c.1576G>C (p.Gly526Arg) n.3331G>C
10	g.30313782C>T	CA376434399	MTPAP	c.1576G>A (p.Gly526Arg) n.3331G>A	gnomAD v4
10	g.30313783C>A	CA376434400	MTPAP	c.1575G>T (p.Trp525Cys) n.3330G>T
10	g.30313783C>G	CA376434402	MTPAP	c.1575G>C (p.Trp525Cys) n.3330G>C
10	g.30313783C>T	CA376434406	MTPAP	c.1575G>A (p.Trp525Ter) n.3330G>A
10	g.30313784C>A	CA376434408	MTPAP	c.1574G>T (p.Trp525Leu) n.3329G>T
10	g.30313784C>G	CA376434409	MTPAP	c.1574G>C (p.Trp525Ser) n.3329G>C
10	g.30313784C>T	CA376434410	MTPAP	c.1574G>A (p.Trp525Ter) n.3329G>A
10	g.30313785A=	CA1899313991	MTPAP	c.1573T= (p.Trp525=) n.3328T=
10	g.30313785A>C	CA376434412	MTPAP	c.1573T>G (p.Trp525Gly) n.3328T>G
10	g.30313785A>G	CA376434414	MTPAP	c.1573T>C (p.Trp525Arg) n.3328T>C
10	g.30313785A>T	CA376434415	MTPAP	c.1573T>A (p.Trp525Arg) n.3328T>A	dbSNP gnomAD v3 gnomAD v4
10	g.30313786G>A	CA468798668	MTPAP	c.1572C>T (p.Pro524=) n.3327C>T	dbSNP gnomAD v2 gnomAD v4
10	g.30313786G>C	CA468798667	MTPAP	c.1572C>G (p.Pro524=) n.3327C>G
10	g.30313786G=	CA1899313992	MTPAP	c.1572C= (p.Pro524=) n.3327C=
10	g.30313786G>T	CA468798666	MTPAP	c.1572C>A (p.Pro524=) n.3327C>A
10	g.30313787G>A	CA376434417	MTPAP	c.1571C>T (p.Pro524Leu) n.3326C>T	gnomAD v4
10	g.30313787G>C	CA376434421	MTPAP	c.1571C>G (p.Pro524Arg) n.3326C>G
10	g.30313787G>T	CA376434419	MTPAP	c.1571C>A (p.Pro524His) n.3326C>A
10	g.30313788G>A	CA376434423	MTPAP	c.1570C>T (p.Pro524Ser) n.3325C>T
10	g.30313788G>C	CA376434425	MTPAP	c.1570C>G (p.Pro524Ala) n.3325C>G
10	g.30313788G>T	CA376434427	MTPAP	c.1570C>A (p.Pro524Thr) n.3325C>A
10	g.30313789C>A	CA468798669	MTPAP	c.1569G>T (p.Arg523=) n.3324G>T
10	g.30313789C>G	CA468798671	MTPAP	c.1569G>C (p.Arg523=) n.3324G>C
10	g.30313789C>T	CA468798670	MTPAP	c.1569G>A (p.Arg523=) n.3324G>A
10	g.30313790C>A	CA376434429	MTPAP	c.1568G>T (p.Arg523Leu) n.3323G>T
10	g.30313790C=	CA1899313993	MTPAP	c.1568G= (p.Arg523=) n.3323G=
10	g.30313790C>G	CA376434431	MTPAP	c.1568G>C (p.Arg523Pro) n.3323G>C
10	g.30313790C>T	CA5458921	MTPAP	c.1568G>A (p.Arg523Gln) n.3323G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10	g.30313791G>A	CA376434433	MTPAP	c.1567C>T (p.Arg523Trp) n.3322C>T	ClinVar dbSNP gnomAD v4
10	g.30313791G>C	CA376434434	MTPAP	c.1567C>G (p.Arg523Gly) n.3322C>G
10	g.30313791G=	CA1899313994	MTPAP	c.1567C= (p.Arg523=) n.3322C=
10	g.30313791G>T	CA468798672	MTPAP	c.1567C>A (p.Arg523=) n.3322C>A	dbSNP
10	g.30313792A>C	CA376434436	MTPAP	c.1566T>G (p.Asn522Lys) n.3321T>G
10	g.30313792A>G	CA468798673	MTPAP	c.1566T>C (p.Asn522=) n.3321T>C
10	g.30313792A>T	CA376434438	MTPAP	c.1566T>A (p.Asn522Lys) n.3321T>A
10	g.30313793T>A	CA376434440	MTPAP	c.1565A>T (p.Asn522Ile) n.3320A>T
10	g.30313793T>C	CA5458922	MTPAP	c.1565A>G (p.Asn522Ser) n.3320A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.30313793T>G	CA376434441	MTPAP	c.1565A>C (p.Asn522Thr) n.3320A>C
10	g.30313793T=	CA1899313995	MTPAP	c.1565A= (p.Asn522=) n.3320A=
10	g.30313794T>A	CA376434454	MTPAP	c.1564A>T (p.Asn522Tyr) n.3319A>T
10	g.30313794T>C	CA376434445	MTPAP	c.1564A>G (p.Asn522Asp) n.3319A>G	ClinVar
10	g.30313794T>G	CA376434452	MTPAP	c.1564A>C (p.Asn522His) n.3319A>C
10	g.30313795A>C	CA376434456	MTPAP	c.1563T>G (p.Ser521Arg) n.3318T>G
10	g.30313795A>G	CA468798674	MTPAP	c.1563T>C (p.Ser521=) n.3318T>C
10	g.30313795A>T	CA376434458	MTPAP	c.1563T>A (p.Ser521Arg) n.3318T>A
10	g.30313796C>A	CA376434460	MTPAP	c.1562G>T (p.Ser521Ile) n.3317G>T
10	g.30313796C>G	CA376434461	MTPAP	c.1562G>C (p.Ser521Thr) n.3317G>C
10	g.30313796C>T	CA376434463	MTPAP	c.1562G>A (p.Ser521Asn) n.3317G>A
10	g.30313797T>A	CA376434465	MTPAP	c.1561A>T (p.Ser521Cys) n.3316A>T
10	g.30313797T>C	CA376434466	MTPAP	c.1561A>G (p.Ser521Gly) n.3316A>G
10	g.30313797T>G	CA376434468	MTPAP	c.1561A>C (p.Ser521Arg) n.3316A>C
10	g.30313798T>A	CA468798675	MTPAP	c.1560A>T (p.Ser520=) n.3315A>T
10	g.30313798T>C	CA468798676	MTPAP	c.1560A>G (p.Ser520=) n.3315A>G
10	g.30313798T>G	CA468798677	MTPAP	c.1560A>C (p.Ser520=) n.3315A>C	gnomAD v4
10	g.30313799G>A	CA376434470	MTPAP	c.1559C>T (p.Ser520Leu) n.3314C>T
10	g.30313799G>C	CA376434471	MTPAP	c.1559C>G (p.Ser520Ter) n.3314C>G
10	g.30313799G>T	CA376434473	MTPAP	c.1559C>A (p.Ser520Ter) n.3314C>A
10	g.30313800A>C	CA376434475	MTPAP	c.1558T>G (p.Ser520Ala) n.3313T>G
10	g.30313800A>G	CA376434479	MTPAP	c.1558T>C (p.Ser520Pro) n.3313T>C
10	g.30313800A>T	CA376434477	MTPAP	c.1558T>A (p.Ser520Thr) n.3313T>A
10	g.30313801T>A	CA468798678	MTPAP	c.1557A>T (p.Ile519=) n.3312A>T
10	g.30313801T>C	CA376434480	MTPAP	c.1557A>G (p.Ile519Met) n.3312A>G	gnomAD v4
10	g.30313801T>G	CA468798679	MTPAP	c.1557A>C (p.Ile519=) n.3312A>C
10	g.30313802A=	CA1899313996	MTPAP	c.1556T= (p.Ile519=) n.3311T=
10	g.30313802A>C	CA376434481	MTPAP	c.1556T>G (p.Ile519Arg) n.3311T>G
10	g.30313802A>G	CA376434482	MTPAP	c.1556T>C (p.Ile519Thr) n.3311T>C	dbSNP gnomAD v4
10	g.30313802A>T	CA376434484	MTPAP	c.1556T>A (p.Ile519Lys) n.3311T>A
10	g.30313803T>A	CA5458923	MTPAP	c.1555A>T (p.Ile519Leu) n.3310A>T	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.30313803T>C	CA376434486	MTPAP	c.1555A>G (p.Ile519Val) n.3310A>G
10	g.30313803T>G	CA376434488	MTPAP	c.1555A>C (p.Ile519Leu) n.3310A>C
10	g.30313803T=	CA1899313997	MTPAP	c.1555A= (p.Ile519=) n.3310A=
10	g.30313804G>A	CA468798680	MTPAP	c.1554C>T (p.Ser518=) n.3309C>T	dbSNP
10	g.30313804G>C	CA468798681	MTPAP	c.1554C>G (p.Ser518=) n.3309C>G
10	g.30313804G=	CA1899313998	MTPAP	c.1554C= (p.Ser518=) n.3309C=
10	g.30313804G>T	CA468798682	MTPAP	c.1554C>A (p.Ser518=) n.3309C>A
10	g.30313804_30313805insAGGCCTCCGGATTTCAGTGTGATTTGACTACGAACAATAGGATTGCCTTGACAAGTTCCGAACTCCTTTATATATATGGTGCCCTAGACTCAAGAGTGAGAGCCTTGGTGTTCAGT	CA926395266	MTPAP	c.1553_1554insACTGAACACCAAGGCTCTCACTCTTGAGTCTAGGGCACCATATATATAAAGGAGTTCGGAACTTGTCAAGGCAATCCTATTGTTCGTAGTCAAATCACACTGAAATCCGGAGGCCT (p.Ile519LeufsTer16) n.3308_3309insACTGAACACCAAGGCTCTCACTCTTGAGTCTAGGGCACCATATATATAAAGGAGTTCGGAACTTGTCAAGGCAATCCTATTGTTCGTAGTCAAATCACACTGAAATCCGGAGGCCT	gnomAD v3 gnomAD v4
10	g.30313805G>A	CA5458924	MTPAP	c.1553C>T (p.Ser518Phe) n.3308C>T	dbSNP ExAC gnomAD v4
10	g.30313805G>C	CA376434491	MTPAP	c.1553C>G (p.Ser518Cys) n.3308C>G
10	g.30313805G=	CA1899313999	MTPAP	c.1553C= (p.Ser518=) n.3308C=
10	g.30313805G>T	CA376434492	MTPAP	c.1553C>A (p.Ser518Tyr) n.3308C>A	COSMIC COSMIC
10	g.30313806A>C	CA376434494	MTPAP	c.1552T>G (p.Ser518Ala) n.3307T>G
10	g.30313806A>G	CA376434495	MTPAP	c.1552T>C (p.Ser518Pro) n.3307T>C
10	g.30313806A>T	CA376434496	MTPAP	c.1552T>A (p.Ser518Thr) n.3307T>A
10	g.30313807A>C	CA468798683	MTPAP	c.1551T>G (p.Pro517=) n.3306T>G
10	g.30313807A>G	CA468798684	MTPAP	c.1551T>C (p.Pro517=) n.3306T>C
10	g.30313807A>T	CA468798685	MTPAP	c.1551T>A (p.Pro517=) n.3306T>A
10	g.30313808G>A	CA5458925	MTPAP	c.1550C>T (p.Pro517Leu) n.3305C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.30313808G>C	CA376434498	MTPAP	c.1550C>G (p.Pro517Arg) n.3305C>G
10	g.30313808G=	CA1899314000	MTPAP	c.1550C= (p.Pro517=) n.3305C=
10	g.30313808G>T	CA376434497	MTPAP	c.1550C>A (p.Pro517His) n.3305C>A	gnomAD v4
10	g.30313809G>A	CA376434499	MTPAP	c.1549C>T (p.Pro517Ser) n.3304C>T
10	g.30313809G>C	CA376434501	MTPAP	c.1549C>G (p.Pro517Ala) n.3304C>G
10	g.30313809G>T	CA376434502	MTPAP	c.1549C>A (p.Pro517Thr) n.3304C>A
10	g.30313810T>A	CA468798688	MTPAP	c.1548A>T (p.Arg516=) n.3303A>T
10	g.30313810T>C	CA468798687	MTPAP	c.1548A>G (p.Arg516=) n.3303A>G
10	g.30313810T>G	CA468798686	MTPAP	c.1548A>C (p.Arg516=) n.3303A>C	dbSNP
10	g.30313810T=	CA1899314001	MTPAP	c.1548A= (p.Arg516=) n.3303A=
10	g.30313811C>A	CA376434504	MTPAP	c.1547G>T (p.Arg516Leu) n.3302G>T	gnomAD v4
10	g.30313811C=	CA1899314002	MTPAP	c.1547G= (p.Arg516=) n.3302G=
10	g.30313811C>G	CA376434506	MTPAP	c.1547G>C (p.Arg516Pro) n.3302G>C
10	g.30313811C>T	CA5458926	MTPAP	c.1547G>A (p.Arg516Gln) n.3302G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.30313812G>A	CA5458927	MTPAP	c.1546C>T (p.Arg516Ter) n.3301C>T	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
10	g.30313812G>C	CA376434509	MTPAP	c.1546C>G (p.Arg516Gly) n.3301C>G	ClinVar dbSNP gnomAD v2 gnomAD v4
10	g.30313812G=	CA1899314003	MTPAP	c.1546C= (p.Arg516=) n.3301C=
10	g.30313812G>T	CA468798689	MTPAP	c.1546C>A (p.Arg516=) n.3301C>A
10	g.30313813A>C	CA376434512	MTPAP	c.1545T>G (p.Asp515Glu) n.3300T>G
10	g.30313813A>G	CA468798690	MTPAP	c.1545T>C (p.Asp515=) n.3300T>C
10	g.30313813A>T	CA376434513	MTPAP	c.1545T>A (p.Asp515Glu) n.3300T>A
10	g.30313814T>A	CA376434516	MTPAP	c.1544A>T (p.Asp515Val) n.3299A>T
10	g.30313814T>C	CA376434518	MTPAP	c.1544A>G (p.Asp515Gly) n.3299A>G
10	g.30313814T>G	CA376434519	MTPAP	c.1544A>C (p.Asp515Ala) n.3299A>C	ClinVar dbSNP
10	g.30313815C>A	CA376434523	MTPAP	c.1543G>T (p.Asp515Tyr) n.3298G>T
10	g.30313815C>G	CA376434525	MTPAP	c.1543G>C (p.Asp515His) n.3298G>C
10	g.30313815C>T	CA376434522	MTPAP	c.1543G>A (p.Asp515Asn) n.3298G>A	gnomAD v4
10	g.30313816T>A	CA468798691	MTPAP	c.1542A>T (p.Thr514=) n.3297A>T
10	g.30313816T>C	CA5458928	MTPAP	c.1542A>G (p.Thr514=) n.3297A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.30313816T>G	CA468798692	MTPAP	c.1542A>C (p.Thr514=) n.3297A>C
10	g.30313816T=	CA1899314004	MTPAP	c.1542A= (p.Thr514=) n.3297A=
10	g.30313817G>A	CA376434527	MTPAP	c.1541C>T (p.Thr514Ile) n.3296C>T	dbSNP gnomAD v3 gnomAD v4
10	g.30313817G>C	CA376434528	MTPAP	c.1541C>G (p.Thr514Arg) n.3296C>G
10	g.30313817G=	CA1899314005	MTPAP	c.1541C= (p.Thr514=) n.3296C=
10	g.30313817G>T	CA376434530	MTPAP	c.1541C>A (p.Thr514Lys) n.3296C>A	ClinVar
10	g.30313818T>A	CA376434531	MTPAP	c.1540A>T (p.Thr514Ser) n.3295A>T
10	g.30313818T>C	CA376434532	MTPAP	c.1540A>G (p.Thr514Ala) n.3295A>G	dbSNP gnomAD v4
10	g.30313818T>G	CA376434533	MTPAP	c.1540A>C (p.Thr514Pro) n.3295A>C
10	g.30313818T=	CA1899314006	MTPAP	c.1540A= (p.Thr514=) n.3295A=
10	g.30313819A=	CA1899314007	MTPAP	c.1539T= (p.Asp513=) n.3294T=
10	g.30313819A>C	CA376434536	MTPAP	c.1539T>G (p.Asp513Glu) n.3294T>G
10	g.30313819A>G	CA5458929	MTPAP	c.1539T>C (p.Asp513=) n.3294T>C	dbSNP ExAC gnomAD v4
10	g.30313819A>T	CA376434538	MTPAP	c.1539T>A (p.Asp513Glu) n.3294T>A
10	g.30313820T>A	CA5458930	MTPAP	c.1538A>T (p.Asp513Val) n.3293A>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.30313820T>C	CA376434540	MTPAP	c.1538A>G (p.Asp513Gly) n.3293A>G	gnomAD v4
10	g.30313820T>G	CA376434541	MTPAP	c.1538A>C (p.Asp513Ala) n.3293A>C
10	g.30313820T=	CA1899314008	MTPAP	c.1538A= (p.Asp513=) n.3293A=
10	g.30313821C>A	CA376434542	MTPAP	c.1537G>T (p.Asp513Tyr) n.3292G>T
10	g.30313821C=	CA1899314009	MTPAP	c.1537G= (p.Asp513=) n.3292G=
10	g.30313821C>G	CA376434545	MTPAP	c.1537G>C (p.Asp513His) n.3292G>C
10	g.30313821C>T	CA376434543	MTPAP	c.1537G>A (p.Asp513Asn) n.3292G>A	dbSNP gnomAD v3 gnomAD v4
10	g.30313822T>A	CA376434547	MTPAP	c.1536A>T (p.Glu512Asp) n.3291A>T
10	g.30313822T>C	CA468798693	MTPAP	c.1536A>G (p.Glu512=) n.3291A>G	ClinVar dbSNP gnomAD v3 gnomAD v4
10	g.30313822T>G	CA376434549	MTPAP	c.1536A>C (p.Glu512Asp) n.3291A>C
10	g.30313822T=	CA1899314010	MTPAP	c.1536A= (p.Glu512=) n.3291A=
10	g.30313823T>A	CA376434550	MTPAP	c.1535A>T (p.Glu512Val) n.3290A>T
10	g.30313823T>C	CA376434552	MTPAP	c.1535A>G (p.Glu512Gly) n.3290A>G
10	g.30313823T>G	CA376434554	MTPAP	c.1535A>C (p.Glu512Ala) n.3290A>C
10	g.30313824C>A	CA376434556	MTPAP	c.1534G>T (p.Glu512Ter) n.3289G>T
10	g.30313824C>G	CA376434557	MTPAP	c.1534G>C (p.Glu512Gln) n.3289G>C
10	g.30313824C>T	CA376434558	MTPAP	c.1534G>A (p.Glu512Lys) n.3289G>A	ClinVar
10	g.30313825C>A	CA376434559	MTPAP	c.1533G>T (p.Gln511His) n.3288G>T
10	g.30313825C=	CA1899314011	MTPAP	c.1533G= (p.Gln511=) n.3288G=
10	g.30313825C>G	CA5458931	MTPAP	c.1533G>C (p.Gln511His) n.3288G>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.30313825C>T	CA468798694	MTPAP	c.1533G>A (p.Gln511=) n.3288G>A
10	g.30313826T>A	CA376434562	MTPAP	c.1532A>T (p.Gln511Leu) n.3287A>T
10	g.30313826T>C	CA376434561	MTPAP	c.1532A>G (p.Gln511Arg) n.3287A>G	dbSNP gnomAD v2 gnomAD v4
10	g.30313826T>G	CA376434560	MTPAP	c.1532A>C (p.Gln511Pro) n.3287A>C
10	g.30313826T=	CA1899314012	MTPAP	c.1532A= (p.Gln511=) n.3287A=
10	g.30313829_30313831del	CA2574454113	MTPAP	c.1530_1532del (p.Gln511del) n.3285_3287del
10	g.30313827G>A	CA376434564	MTPAP	c.1531C>T (p.Gln511Ter) n.3286C>T	gnomAD v4
10	g.30313827G>C	CA376434563	MTPAP	c.1531C>G (p.Gln511Glu) n.3286C>G
10	g.30313827G>T	CA376434566	MTPAP	c.1531C>A (p.Gln511Lys) n.3286C>A	gnomAD v4
10	g.30313828T>A	CA376434567	MTPAP	c.1530A>T (p.Gln510His) n.3285A>T
10	g.30313828T>C	CA468798695	MTPAP	c.1530A>G (p.Gln510=) n.3285A>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.30313828T>G	CA376434568	MTPAP	c.1530A>C (p.Gln510His) n.3285A>C
10	g.30313828T=	CA1899314013	MTPAP	c.1530A= (p.Gln510=) n.3285A=
10	g.30313829T>A	CA376434569	MTPAP	c.1529A>T (p.Gln510Leu) n.3284A>T
10	g.30313829T>C	CA376434570	MTPAP	c.1529A>G (p.Gln510Arg) n.3284A>G
10	g.30313829T>G	CA5458932	MTPAP	c.1529A>C (p.Gln510Pro) n.3284A>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.30313829T=	CA1899314014	MTPAP	c.1529A= (p.Gln510=) n.3284A=
10	g.30313830G>A	CA376434571	MTPAP	c.1528C>T (p.Gln510Ter) n.3283C>T
10	g.30313830G>C	CA376434572	MTPAP	c.1528C>G (p.Gln510Glu) n.3283C>G
10	g.30313830G=	CA1899314015	MTPAP	c.1528C= (p.Gln510=) n.3283C=
10	g.30313830G>T	CA376434573	MTPAP	c.1528C>A (p.Gln510Lys) n.3283C>A	dbSNP
10	g.30313831T>A	CA376434574	MTPAP	c.1527A>T (p.Leu509Phe) n.3282A>T
10	g.30313831T>C	CA468798696	MTPAP	c.1527A>G (p.Leu509=) n.3282A>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.30313831T>G	CA376434575	MTPAP	c.1527A>C (p.Leu509Phe) n.3282A>C
10	g.30313831T=	CA1899314016	MTPAP	c.1527A= (p.Leu509=) n.3282A=
10	g.30313832A>C	CA376434576	MTPAP	c.1526T>G (p.Leu509Ter) n.3281T>G
10	g.30313832A>G	CA376434577	MTPAP	c.1526T>C (p.Leu509Ser) n.3281T>C
10	g.30313832A>T	CA376434578	MTPAP	c.1526T>A (p.Leu509Ter) n.3281T>A
10	g.30313833A>C	CA376434579	MTPAP	c.1525T>G (p.Leu509Val) n.3280T>G
10	g.30313833A>G	CA468798697	MTPAP	c.1525T>C (p.Leu509=) n.3280T>C
10	g.30313833A>T	CA376434580	MTPAP	c.1525T>A (p.Leu509Ile) n.3280T>A
10	g.30313834A>C	CA376434581	MTPAP	c.1524T>G (p.Ile508Met) n.3279T>G
10	g.30313834A>G	CA468798698	MTPAP	c.1524T>C (p.Ile508=) n.3279T>C
10	g.30313834A>T	CA468798699	MTPAP	c.1524T>A (p.Ile508=) n.3279T>A
10	g.30313835A>C	CA376434584	MTPAP	c.1523T>G (p.Ile508Ser) n.3278T>G
10	g.30313835A>G	CA376434583	MTPAP	c.1523T>C (p.Ile508Thr) n.3278T>C
10	g.30313835A>T	CA376434582	MTPAP	c.1523T>A (p.Ile508Asn) n.3278T>A
10	g.30313836T>A	CA376434585	MTPAP	c.1522A>T (p.Ile508Phe) n.3277A>T
10	g.30313836T>C	CA376434586	MTPAP	c.1522A>G (p.Ile508Val) n.3277A>G
10	g.30313836T>G	CA376434587	MTPAP	c.1522A>C (p.Ile508Leu) n.3277A>C
10	g.30313837C>A	CA376434588	MTPAP	c.1521G>T (p.Trp507Cys) n.3276G>T
10	g.30313837C>G	CA376434589	MTPAP	c.1521G>C (p.Trp507Cys) n.3276G>C
10	g.30313837C>T	CA376434590	MTPAP	c.1521G>A (p.Trp507Ter) n.3276G>A
10	g.30313838C>A	CA376434591	MTPAP	c.1520G>T (p.Trp507Leu) n.3275G>T
10	g.30313838C>G	CA376434592	MTPAP	c.1520G>C (p.Trp507Ser) n.3275G>C
10	g.30313838C>T	CA376434593	MTPAP	c.1520G>A (p.Trp507Ter) n.3275G>A
10	g.30313839A=	CA1899314017	MTPAP	c.1519T= (p.Trp507=) n.3274T=
10	g.30313839A>C	CA376434594	MTPAP	c.1519T>G (p.Trp507Gly) n.3274T>G
10	g.30313839A>G	CA376434595	MTPAP	c.1519T>C (p.Trp507Arg) n.3274T>C
10	g.30313839A>T	CA5458933	MTPAP	c.1519T>A (p.Trp507Arg) n.3274T>A	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.30313840G>A	CA468798700	MTPAP	c.1518C>T (p.Ala506=) n.3273C>T	gnomAD v4
10	g.30313840G>C	CA468798701	MTPAP	c.1518C>G (p.Ala506=) n.3273C>G
10	g.30313840G>T	CA468798702	MTPAP	c.1518C>A (p.Ala506=) n.3273C>A
10	g.30313841G>A	CA376434598	MTPAP	c.1517C>T (p.Ala506Val) n.3272C>T
10	g.30313841G>C	CA376434597	MTPAP	c.1517C>G (p.Ala506Gly) n.3272C>G
10	g.30313841G>T	CA376434596	MTPAP	c.1517C>A (p.Ala506Asp) n.3272C>A
10	g.30313842C>A	CA376434599	MTPAP	c.1516G>T (p.Ala506Ser) n.3271G>T	dbSNP gnomAD v2 gnomAD v4
10	g.30313842C=	CA1899314018	MTPAP	c.1516G= (p.Ala506=) n.3271G=
10	g.30313842C>G	CA376434600	MTPAP	c.1516G>C (p.Ala506Pro) n.3271G>C
10	g.30313842C>T	CA376434601	MTPAP	c.1516G>A (p.Ala506Thr) n.3271G>A
10	g.30313843A>C	CA376434602	MTPAP	c.1515T>G (p.Ser505Arg) n.3270T>G
10	g.30313843A>G	CA468798703	MTPAP	c.1515T>C (p.Ser505=) n.3270T>C
10	g.30313843A>T	CA376434603	MTPAP	c.1515T>A (p.Ser505Arg) n.3270T>A
10	g.30313844C>A	CA376434604	MTPAP	c.1514G>T (p.Ser505Ile) n.3269G>T
10	g.30313844C>G	CA376434605	MTPAP	c.1514G>C (p.Ser505Thr) n.3269G>C
10	g.30313844C>T	CA376434606	MTPAP	c.1514G>A (p.Ser505Asn) n.3269G>A	gnomAD v4
10	g.30313845T>A	CA376434607	MTPAP	c.1513A>T (p.Ser505Cys) n.3268A>T
10	g.30313845T>C	CA376434608	MTPAP	c.1513A>G (p.Ser505Gly) n.3268A>G
10	g.30313845T>G	CA376434609	MTPAP	c.1513A>C (p.Ser505Arg) n.3268A>C
10	g.30313846T>A	CA376434610	MTPAP	c.1512A>T (p.Glu504Asp) n.3267A>T
10	g.30313846T>C	CA468798704	MTPAP	c.1512A>G (p.Glu504=) n.3267A>G
10	g.30313846T>G	CA376434611	MTPAP	c.1512A>C (p.Glu504Asp) n.3267A>C
10	g.30313847T>A	CA376434613	MTPAP	c.1511A>T (p.Glu504Val) n.3266A>T
10	g.30313847T>C	CA5458934	MTPAP	c.1511A>G (p.Glu504Gly) n.3266A>G	dbSNP ExAC gnomAD v2
10	g.30313847T>G	CA376434612	MTPAP	c.1511A>C (p.Glu504Ala) n.3266A>C	gnomAD v4
10	g.30313847T=	CA1899314019	MTPAP	c.1511A= (p.Glu504=) n.3266A=
10	g.30313848C>A	CA376434614	MTPAP	c.1510G>T (p.Glu504Ter) n.3265G>T
10	g.30313848C>G	CA376434615	MTPAP	c.1510G>C (p.Glu504Gln) n.3265G>C
10	g.30313848C>T	CA376434616	MTPAP	c.1510G>A (p.Glu504Lys) n.3265G>A

Number of alleles fetched