Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
10	g.133369905G>A	CA278768	ECHS1	c.413C>T (p.Ala138Val) n.476C>T	ClinVar dbSNP COSMIC
10	g.133369905G>C	CA378821138	ECHS1	c.413C>G (p.Ala138Gly) n.476C>G
10	g.133369905G=	CA1946719098	ECHS1	c.413C= (p.Ala138=) n.476C=
10	g.133369905G>T	CA378821136	ECHS1	c.413C>A (p.Ala138Asp) n.476C>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.133369906C>A	CA378821143	ECHS1	c.412G>T (p.Ala138Ser) n.475G>T
10	g.133369906C>G	CA378821147	ECHS1	c.412G>C (p.Ala138Pro) n.475G>C
10	g.133369906C>T	CA378821146	ECHS1	c.412G>A (p.Ala138Thr) n.475G>A	ClinVar
10	g.133369906_133369908delinsCAT	CA1946719099	ECHS1	c.410_412delinsATG (p.Tyr137=) n.473_475delinsATG
10	g.133369907A=	CA1946719100	ECHS1	c.411T= (p.Tyr137=) n.474T=
10	g.133369907A>C	CA378821151	ECHS1	c.411T>G (p.Tyr137Ter) n.474T>G
10	g.133369907A>G	CA472223884	ECHS1	c.411T>C (p.Tyr137=) n.474T>C	dbSNP gnomAD v2 gnomAD v4
10	g.133369907A>T	CA378821154	ECHS1	c.411T>A (p.Tyr137Ter) n.474T>A
10	g.133369908_133369909del	CA5765799	ECHS1	c.410_411del (p.Tyr137CysfsTer7) n.473_474del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.133369908T>A	CA378821155	ECHS1	c.410A>T (p.Tyr137Phe) n.473A>T
10	g.133369908T>C	CA378821158	ECHS1	c.410A>G (p.Tyr137Cys) n.473A>G	dbSNP gnomAD v3 gnomAD v4
10	g.133369908T>G	CA378821163	ECHS1	c.410A>C (p.Tyr137Ser) n.473A>C
10	g.133369908T=	CA1946719101	ECHS1	c.410A= (p.Tyr137=) n.473A=
10	g.133369909A>C	CA378821167	ECHS1	c.409T>G (p.Tyr137Asp) n.472T>G
10	g.133369909A>G	CA378821169	ECHS1	c.409T>C (p.Tyr137His) n.472T>C
10	g.133369909A>T	CA378821171	ECHS1	c.409T>A (p.Tyr137Asn) n.472T>A
10	g.133369910G>A	CA472223904	ECHS1	c.408C>T (p.Gly136=) n.471C>T
10	g.133369910G>C	CA472223908	ECHS1	c.408C>G (p.Gly136=) n.471C>G
10	g.133369910G>T	CA472223910	ECHS1	c.408C>A (p.Gly136=) n.471C>A
10	g.133369911C>A	CA378821178	ECHS1	c.407G>T (p.Gly136Val) n.470G>T
10	g.133369911C>G	CA378821180	ECHS1	c.407G>C (p.Gly136Ala) n.470G>C
10	g.133369911C>T	CA378821182	ECHS1	c.407G>A (p.Gly136Asp) n.470G>A
10	g.133369912C>A	CA378821185	ECHS1	c.406G>T (p.Gly136Cys) n.469G>T
10	g.133369912C>G	CA378821188	ECHS1	c.406G>C (p.Gly136Arg) n.469G>C
10	g.133369912C>T	CA378821190	ECHS1	c.406G>A (p.Gly136Ser) n.469G>A
10	g.133369913A>C	CA378821191	ECHS1	c.405T>G (p.Asn135Lys) n.468T>G
10	g.133369913A>G	CA472223944	ECHS1	c.405T>C (p.Asn135=) n.468T>C
10	g.133369913A>T	CA378821193	ECHS1	c.405T>A (p.Asn135Lys) n.468T>A
10	g.133369914T>A	CA378821198	ECHS1	c.404A>T (p.Asn135Ile) n.467A>T
10	g.133369914T>C	CA5765800	ECHS1	c.404A>G (p.Asn135Ser) n.467A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.133369914T>G	CA378821201	ECHS1	c.404A>C (p.Asn135Thr) n.467A>C
10	g.133369914T=	CA1946719102	ECHS1	c.404A= (p.Asn135=) n.467A=
10	g.133369915T>A	CA378821204	ECHS1	c.403A>T (p.Asn135Tyr) n.466A>T	dbSNP
10	g.133369915T>C	CA378821206	ECHS1	c.403A>G (p.Asn135Asp) n.466A>G
10	g.133369915T>G	CA378821208	ECHS1	c.403A>C (p.Asn135His) n.466A>C
10	g.133369916G>A	CA472223961	ECHS1	c.402C>T (p.Val134=) n.465C>T
10	g.133369916G>C	CA472223964	ECHS1	c.402C>G (p.Val134=) n.465C>G
10	g.133369916G>T	CA472223966	ECHS1	c.402C>A (p.Val134=) n.465C>A
10	g.133369917A>C	CA378821210	ECHS1	c.401T>G (p.Val134Gly) n.464T>G
10	g.133369917A>G	CA378821213	ECHS1	c.401T>C (p.Val134Ala) n.464T>C
10	g.133369917A>T	CA378821215	ECHS1	c.401T>A (p.Val134Asp) n.464T>A	gnomAD v4
10	g.133369918C>A	CA378821218	ECHS1	c.400G>T (p.Val134Phe) n.463G>T
10	g.133369918C>G	CA378821221	ECHS1	c.400G>C (p.Val134Leu) n.463G>C
10	g.133369918C>T	CA378821226	ECHS1	c.400G>A (p.Val134Ile) n.463G>A
10	g.133369919A=	CA1946719103	ECHS1	c.399T= (p.Ala133=) n.462T=
10	g.133369919A>C	CA472223979	ECHS1	c.399T>G (p.Ala133=) n.462T>G
10	g.133369919A>G	CA472223982	ECHS1	c.399T>C (p.Ala133=) n.462T>C	dbSNP gnomAD v2 gnomAD v4
10	g.133369919A>T	CA472223986	ECHS1	c.399T>A (p.Ala133=) n.462T>A
10	g.133369920G>A	CA378821230	ECHS1	c.398C>T (p.Ala133Val) n.461C>T	gnomAD v4
10	g.133369920G>C	CA378821234	ECHS1	c.398C>G (p.Ala133Gly) n.461C>G
10	g.133369920G>T	CA378821232	ECHS1	c.398C>A (p.Ala133Asp) n.461C>A
10	g.133369921C>A	CA378821238	ECHS1	c.397G>T (p.Ala133Ser) n.460G>T	dbSNP
10	g.133369921C=	CA1946719104	ECHS1	c.397G= (p.Ala133=) n.460G=
10	g.133369921C>G	CA378821240	ECHS1	c.397G>C (p.Ala133Pro) n.460G>C
10	g.133369921C>T	CA378821243	ECHS1	c.397G>A (p.Ala133Thr) n.460G>A
10	g.133369922A>C	CA472223996	ECHS1	c.396T>G (p.Ala132=) n.459T>G
10	g.133369922A>G	CA472224001	ECHS1	c.396T>C (p.Ala132=) n.459T>C
10	g.133369922A>T	CA472224003	ECHS1	c.396T>A (p.Ala132=) n.459T>A
10	g.133369923G>A	CA378821244	ECHS1	c.395C>T (p.Ala132Val) n.458C>T	ClinVar gnomAD v4
10	g.133369923G>C	CA378821247	ECHS1	c.395C>G (p.Ala132Gly) n.458C>G	gnomAD v4
10	g.133369923G>T	CA378821262	ECHS1	c.395C>A (p.Ala132Asp) n.458C>A
10	g.133369924C>A	CA378821267	ECHS1	c.394G>T (p.Ala132Ser) n.457G>T
10	g.133369924C=	CA1946719105	ECHS1	c.394G= (p.Ala132=) n.457G=
10	g.133369924C>G	CA378821270	ECHS1	c.394G>C (p.Ala132Pro) n.457G>C
10	g.133369924C>T	CA5765801	ECHS1	c.394G>A (p.Ala132Thr) n.457G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.133369925G>A	CA5765802	ECHS1	c.393C>T (p.Ile131=) n.456C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.133369925G>C	CA378821275	ECHS1	c.393C>G (p.Ile131Met) n.456C>G
10	g.133369925G=	CA1946719106	ECHS1	c.393C= (p.Ile131=) n.456C=
10	g.133369925G>T	CA472224026	ECHS1	c.393C>A (p.Ile131=) n.456C>A
10	g.133369926A=	CA1946719107	ECHS1	c.392T= (p.Ile131=) n.455T=
10	g.133369926A>C	CA378821284	ECHS1	c.392T>G (p.Ile131Ser) n.455T>G
10	g.133369926A>G	CA216818519	ECHS1	c.392T>C (p.Ile131Thr) n.455T>C	ClinVar dbSNP gnomAD v3 gnomAD v4
10	g.133369926A>T	CA378821280	ECHS1	c.392T>A (p.Ile131Asn) n.455T>A
10	g.133369927T>A	CA378821290	ECHS1	c.391A>T (p.Ile131Phe) n.454A>T
10	g.133369927T>C	CA378821293	ECHS1	c.391A>G (p.Ile131Val) n.454A>G
10	g.133369927T>G	CA378821295	ECHS1	c.391A>C (p.Ile131Leu) n.454A>C
10	g.133369928G>A	CA472224056	ECHS1	c.390C>T (p.Val130=) n.453C>T
10	g.133369928G>C	CA472224059	ECHS1	c.390C>G (p.Val130=) n.453C>G
10	g.133369928G>T	CA472224054	ECHS1	c.390C>A (p.Val130=) n.453C>A
10	g.133369929A=	CA1946719108	ECHS1	c.389T= (p.Val130=) n.452T=
10	g.133369929A>C	CA378821299	ECHS1	c.389T>G (p.Val130Gly) n.452T>G
10	g.133369929A>G	CA378821302	ECHS1	c.389T>C (p.Val130Ala) n.452T>C
10	g.133369929A>T	CA5765803	ECHS1	c.389T>A (p.Val130Asp) n.452T>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.133369930C>A	CA378821306	ECHS1	c.388G>T (p.Val130Phe) n.451G>T
10	g.133369930C>G	CA378821309	ECHS1	c.388G>C (p.Val130Leu) n.451G>C
10	g.133369930C>T	CA378821318	ECHS1	c.388G>A (p.Val130Ile) n.451G>A
10	g.133369931T>A	CA472224089	ECHS1	c.387A>T (p.Pro129=) n.450A>T
10	g.133369931T>C	CA472224066	ECHS1	c.387A>G (p.Pro129=) n.450A>G
10	g.133369931T>G	CA472224068	ECHS1	c.387A>C (p.Pro129=) n.450A>C
10	g.133369932G>A	CA378821322	ECHS1	c.386C>T (p.Pro129Leu) n.449C>T
10	g.133369932G>C	CA378821326	ECHS1	c.386C>G (p.Pro129Arg) n.449C>G
10	g.133369932G>T	CA378821330	ECHS1	c.386C>A (p.Pro129Gln) n.449C>A
10	g.133369933G>A	CA378821336	ECHS1	c.385C>T (p.Pro129Ser) n.448C>T
10	g.133369933G>C	CA378821333	ECHS1	c.385C>G (p.Pro129Ala) n.448C>G
10	g.133369933G>T	CA378821332	ECHS1	c.385C>A (p.Pro129Thr) n.448C>A
10	g.133369934C>A	CA378821340	ECHS1	c.384G>T (p.Lys128Asn) n.447G>T
10	g.133369934C>G	CA378821341	ECHS1	c.384G>C (p.Lys128Asn) n.447G>C
10	g.133369934C>T	CA472224119	ECHS1	c.384G>A (p.Lys128=) n.447G>A	gnomAD v4
10	g.133369935T>A	CA378821342	ECHS1	c.383A>T (p.Lys128Met) n.446A>T
10	g.133369935T>C	CA378821343	ECHS1	c.383A>G (p.Lys128Arg) n.446A>G
10	g.133369935T>G	CA378821344	ECHS1	c.383A>C (p.Lys128Thr) n.446A>C
10	g.133369936T>A	CA378821345	ECHS1	c.382A>T (p.Lys128Ter) n.445A>T
10	g.133369936T>C	CA378821347	ECHS1	c.382A>G (p.Lys128Glu) n.445A>G
10	g.133369936T>G	CA378821350	ECHS1	c.382A>C (p.Lys128Gln) n.445A>C	dbSNP gnomAD v4
10	g.133369936T=	CA1946719109	ECHS1	c.382A= (p.Lys128=) n.445A=
10	g.133369937C>A	CA378821353	ECHS1	c.381G>T (p.Lys127Asn) n.444G>T
10	g.133369937C>G	CA378821360	ECHS1	c.381G>C (p.Lys127Asn) n.444G>C
10	g.133369937C>T	CA472224141	ECHS1	c.381G>A (p.Lys127=) n.444G>A
10	g.133369938T>A	CA378821365	ECHS1	c.380A>T (p.Lys127Met) n.443A>T
10	g.133369938T>C	CA378821369	ECHS1	c.380A>G (p.Lys127Arg) n.443A>G	gnomAD v4
10	g.133369938T>G	CA378821372	ECHS1	c.380A>C (p.Lys127Thr) n.443A>C
10	g.133369939T>A	CA378821377	ECHS1	c.379A>T (p.Lys127Ter) n.442A>T
10	g.133369939T>C	CA378821376	ECHS1	c.379A>G (p.Lys127Glu) n.442A>G
10	g.133369939T>G	CA378821375	ECHS1	c.379A>C (p.Lys127Gln) n.442A>C
10	g.133369940G>A	CA472224157	ECHS1	c.378C>T (p.Val126=) n.441C>T
10	g.133369940G>C	CA472224167	ECHS1	c.378C>G (p.Val126=) n.441C>G
10	g.133369940G>T	CA472224169	ECHS1	c.378C>A (p.Val126=) n.441C>A
10	g.133369941A>C	CA378821378	ECHS1	c.377T>G (p.Val126Gly) n.440T>G
10	g.133369941A>G	CA378821379	ECHS1	c.377T>C (p.Val126Ala) n.440T>C
10	g.133369941A>T	CA378821381	ECHS1	c.377T>A (p.Val126Asp) n.440T>A
10	g.133369942C>A	CA378821384	ECHS1	c.376G>T (p.Val126Phe) n.439G>T
10	g.133369942C=	CA1946719110	ECHS1	c.376G= (p.Val126=) n.439G=
10	g.133369942C>G	CA378821387	ECHS1	c.376G>C (p.Val126Leu) n.439G>C	dbSNP
10	g.133369942C>T	CA378821389	ECHS1	c.376G>A (p.Val126Ile) n.439G>A	ClinVar dbSNP gnomAD v4
10	g.133369943del	CA2611597806	ECHS1	c.376del (p.Val126SerfsTer22) n.439del	gnomAD v4
10	g.133369943C>A	CA378821392	ECHS1	c.375G>T (p.Gln125His) n.438G>T
10	g.133369943C=	CA1946719111	ECHS1	c.375G= (p.Gln125=) n.438G=
10	g.133369943C>G	CA378821399	ECHS1	c.375G>C (p.Gln125His) n.438G>C
10	g.133369943C>T	CA5765804	ECHS1	c.375G>A (p.Gln125=) n.438G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.133369944T>A	CA378821405	ECHS1	c.374A>T (p.Gln125Leu) n.437A>T
10	g.133369944T>C	CA378821412	ECHS1	c.374A>G (p.Gln125Arg) n.437A>G	dbSNP gnomAD v4 COSMIC
10	g.133369944T>G	CA378821413	ECHS1	c.374A>C (p.Gln125Pro) n.437A>C
10	g.133369944T=	CA1946719112	ECHS1	c.374A= (p.Gln125=) n.437A=
10	g.133369945G>A	CA378821422	ECHS1	c.373C>T (p.Gln125Ter) n.436C>T	dbSNP gnomAD v2 gnomAD v4
10	g.133369945G>C	CA378821424	ECHS1	c.373C>G (p.Gln125Glu) n.436C>G	gnomAD v4
10	g.133369945G=	CA1946719113	ECHS1	c.373C= (p.Gln125=) n.436C=
10	g.133369945G>T	CA378821419	ECHS1	c.373C>A (p.Gln125Lys) n.436C>A
10	g.133369947del	CA2550364599	ECHS1	c.373del (p.Gln125ArgfsTer23) n.436del	gnomAD v4
10	g.133369946G>A	CA5765806	ECHS1	c.372C>T (p.Thr124=) n.435C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10	g.133369946G>C	CA472224236	ECHS1	c.372C>G (p.Thr124=) n.435C>G
10	g.133369946G=	CA1946719114	ECHS1	c.372C= (p.Thr124=) n.435C=
10	g.133369946G>T	CA5765805	ECHS1	c.372C>A (p.Thr124=) n.435C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.133369947G>A	CA090978	ECHS1	c.371C>T (p.Thr124Ile) n.434C>T	ClinVar dbSNP gnomAD v3 gnomAD v4
10	g.133369947G>C	CA378821439	ECHS1	c.371C>G (p.Thr124Ser) n.434C>G	ClinVar dbSNP gnomAD v3 gnomAD v4
10	g.133369947G=	CA1946719115	ECHS1	c.371C= (p.Thr124=) n.434C=
10	g.133369947G>T	CA378821441	ECHS1	c.371C>A (p.Thr124Asn) n.434C>A
10	g.133369948T>A	CA378821446	ECHS1	c.370A>T (p.Thr124Ser) n.433A>T
10	g.133369948T>C	CA378821449	ECHS1	c.370A>G (p.Thr124Ala) n.433A>G
10	g.133369948T>G	CA378821451	ECHS1	c.370A>C (p.Thr124Pro) n.433A>C	dbSNP
10	g.133369948T=	CA1946719116	ECHS1	c.370A= (p.Thr124=) n.433A=
10	g.133369948dup	CA2580082471	ECHS1	c.370dup (p.Thr124AsnfsTer21) n.433dup	ClinVar
10	g.133369949G>A	CA472224265	ECHS1	c.369C>T (p.Leu123=) n.432C>T
10	g.133369949G>C	CA472224262	ECHS1	c.369C>G (p.Leu123=) n.432C>G
10	g.133369949G=	CA1946719117	ECHS1	c.369C= (p.Leu123=) n.432C=
10	g.133369949G>T	CA472224259	ECHS1	c.369C>A (p.Leu123=) n.432C>A	dbSNP
10	g.133369950A>C	CA378821455	ECHS1	c.368T>G (p.Leu123Arg) n.431T>G
10	g.133369950A>G	CA378821459	ECHS1	c.368T>C (p.Leu123Pro) n.431T>C
10	g.133369950A>T	CA378821462	ECHS1	c.368T>A (p.Leu123His) n.431T>A
10	g.133369951G>A	CA378821464	ECHS1	c.367C>T (p.Leu123Phe) n.430C>T	gnomAD v4
10	g.133369951G>C	CA378821468	ECHS1	c.367C>G (p.Leu123Val) n.430C>G
10	g.133369951G>T	CA378821473	ECHS1	c.367C>A (p.Leu123Ile) n.430C>A
10	g.133369952G>A	CA472224273	ECHS1	c.366C>T (p.His122=) n.429C>T
10	g.133369952G>C	CA378821477	ECHS1	c.366C>G (p.His122Gln) n.429C>G
10	g.133369952G>T	CA378821479	ECHS1	c.366C>A (p.His122Gln) n.429C>A
10	g.133369953T>A	CA378821482	ECHS1	c.365A>T (p.His122Leu) n.428A>T
10	g.133369953T>C	CA5765807	ECHS1	c.365A>G (p.His122Arg) n.428A>G	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.133369953T>G	CA378821488	ECHS1	c.365A>C (p.His122Pro) n.428A>C	dbSNP
10	g.133369953T=	CA1946719118	ECHS1	c.365A= (p.His122=) n.428A=
10	g.133369953_133369954delinsTG	CA1946719119	ECHS1	c.364_365delinsCA (p.His122=) n.427_428delinsCA
10	g.133369954G>A	CA378821492	ECHS1	c.364C>T (p.His122Tyr) n.427C>T	dbSNP
10	g.133369954G>C	CA378821497	ECHS1	c.364C>G (p.His122Asp) n.427C>G	dbSNP gnomAD v2 gnomAD v4
10	g.133369954G=	CA1946719120	ECHS1	c.364C= (p.His122=) n.427C=
10	g.133369954G>T	CA378821498	ECHS1	c.364C>A (p.His122Asn) n.427C>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.133369955del	CA934176427	ECHS1	c.364del (p.His122ThrfsTer26) n.427del	dbSNP gnomAD v3 gnomAD v4
10	g.133369955G>A	CA472224297	ECHS1	c.363C>T (p.Asp121=) n.426C>T
10	g.133369955G>C	CA378821505	ECHS1	c.363C>G (p.Asp121Glu) n.426C>G
10	g.133369955G>T	CA378821508	ECHS1	c.363C>A (p.Asp121Glu) n.426C>A
10	g.133369956T>A	CA378821520	ECHS1	c.362A>T (p.Asp121Val) n.425A>T
10	g.133369956T>C	CA378821521	ECHS1	c.362A>G (p.Asp121Gly) n.425A>G
10	g.133369956T>G	CA378821522	ECHS1	c.362A>C (p.Asp121Ala) n.425A>C
10	g.133369957C>A	CA378821524	ECHS1	c.361G>T (p.Asp121Tyr) n.424G>T
10	g.133369957C=	CA1946719121	ECHS1	c.361G= (p.Asp121=) n.424G=
10	g.133369957C>G	CA378821525	ECHS1	c.361G>C (p.Asp121His) n.424G>C
10	g.133369957C>T	CA378821529	ECHS1	c.361G>A (p.Asp121Asn) n.424G>A	dbSNP
10	g.133369958C>A	CA378821538	ECHS1	c.360G>T (p.Trp120Cys) n.423G>T
10	g.133369958C>G	CA378821536	ECHS1	c.360G>C (p.Trp120Cys) n.423G>C
10	g.133369958C>T	CA378821533	ECHS1	c.360G>A (p.Trp120Ter) n.423G>A
10	g.133369959C>A	CA378821540	ECHS1	c.359G>T (p.Trp120Leu) n.422G>T
10	g.133369959C>G	CA378821550	ECHS1	c.359G>C (p.Trp120Ser) n.422G>C
10	g.133369959C>T	CA378821545	ECHS1	c.359G>A (p.Trp120Ter) n.422G>A
10	g.133369960A>C	CA378821554	ECHS1	c.358T>G (p.Trp120Gly) n.421T>G
10	g.133369960A>G	CA378821568	ECHS1	c.358T>C (p.Trp120Arg) n.421T>C
10	g.133369960A>T	CA378821558	ECHS1	c.358T>A (p.Trp120Arg) n.421T>A
10	g.133369960_133369961del	CA2611597807	ECHS1	c.357_358del (p.His119GlnfsTer25) n.420_421del	gnomAD v4
10	g.133369961G>A	CA472224332	ECHS1	c.357C>T (p.His119=) n.420C>T
10	g.133369961G>C	CA5765808	ECHS1	c.357C>G (p.His119Gln) n.420C>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.133369961G=	CA1946719122	ECHS1	c.357C= (p.His119=) n.420C=
10	g.133369961G>T	CA378821573	ECHS1	c.357C>A (p.His119Gln) n.420C>A
10	g.133369962T>A	CA378821576	ECHS1	c.356A>T (p.His119Leu) n.419A>T
10	g.133369962T>C	CA378821580	ECHS1	c.356A>G (p.His119Arg) n.419A>G
10	g.133369962T>G	CA378821578	ECHS1	c.356A>C (p.His119Pro) n.419A>C
10	g.133369963G>A	CA378821593	ECHS1	c.355C>T (p.His119Tyr) n.418C>T
10	g.133369963G>C	CA378821596	ECHS1	c.355C>G (p.His119Asp) n.418C>G
10	g.133369963G>T	CA378821598	ECHS1	c.355C>A (p.His119Asn) n.418C>A
10	g.133369964C>A	CA378821604	ECHS1	c.354G>T (p.Lys118Asn) n.417G>T
10	g.133369964C>G	CA378821606	ECHS1	c.354G>C (p.Lys118Asn) n.417G>C
10	g.133369964C>T	CA472224365	ECHS1	c.354G>A (p.Lys118=) n.417G>A	ClinVar dbSNP gnomAD v4
10	g.133369965T>A	CA378821610	ECHS1	c.353A>T (p.Lys118Met) n.416A>T
10	g.133369965T>C	CA378821611	ECHS1	c.353A>G (p.Lys118Arg) n.416A>G
10	g.133369965T>G	CA378821618	ECHS1	c.353A>C (p.Lys118Thr) n.416A>C
10	g.133369966T>A	CA378821622	ECHS1	c.352A>T (p.Lys118Ter) n.415A>T
10	g.133369966T>C	CA378821625	ECHS1	c.352A>G (p.Lys118Glu) n.415A>G
10	g.133369966T>G	CA378821628	ECHS1	c.352A>C (p.Lys118Gln) n.415A>C
10	g.133369967C>A	CA378821631	ECHS1	c.351G>T (p.Leu117Phe) n.414G>T
10	g.133369967C>G	CA378821633	ECHS1	c.351G>C (p.Leu117Phe) n.414G>C
10	g.133369967C>T	CA472224373	ECHS1	c.351G>A (p.Leu117=) n.414G>A
10	g.133369968A>C	CA378821638	ECHS1	c.350T>G (p.Leu117Trp) n.413T>G
10	g.133369968A>G	CA378821641	ECHS1	c.350T>C (p.Leu117Ser) n.413T>C	gnomAD v4
10	g.133369968A>T	CA378821644	ECHS1	c.350T>A (p.Leu117Ter) n.413T>A
10	g.133369969A=	CA1946719123	ECHS1	c.349T= (p.Leu117=) n.412T=
10	g.133369969A>C	CA378821645	ECHS1	c.349T>G (p.Leu117Val) n.412T>G	gnomAD v4
10	g.133369969A>G	CA472224385	ECHS1	c.349T>C (p.Leu117=) n.412T>C	dbSNP gnomAD v3 gnomAD v4
10	g.133369969A>T	CA378821646	ECHS1	c.349T>A (p.Leu117Met) n.412T>A
10	g.133369970G>A	CA472224390	ECHS1	c.348C>T (p.Phe116=) n.411C>T	dbSNP gnomAD v3 gnomAD v4
10	g.133369970G>C	CA378821647	ECHS1	c.348C>G (p.Phe116Leu) n.411C>G	gnomAD v4
10	g.133369970G=	CA1946719124	ECHS1	c.348C= (p.Phe116=) n.411C=
10	g.133369970G>T	CA378821648	ECHS1	c.348C>A (p.Phe116Leu) n.411C>A
10	g.133369971A=	CA1946719125	ECHS1	c.347T= (p.Phe116=) n.410T=
10	g.133369971A>C	CA378821653	ECHS1	c.347T>G (p.Phe116Cys) n.410T>G	dbSNP
10	g.133369971A>G	CA378821655	ECHS1	c.347T>C (p.Phe116Ser) n.410T>C
10	g.133369971A>T	CA378821660	ECHS1	c.347T>A (p.Phe116Tyr) n.410T>A
10	g.133369972A>C	CA378821665	ECHS1	c.346T>G (p.Phe116Val) n.409T>G
10	g.133369972A>G	CA378821669	ECHS1	c.346T>C (p.Phe116Leu) n.409T>C
10	g.133369972A>T	CA378821663	ECHS1	c.346T>A (p.Phe116Ile) n.409T>A
10	g.133369973C>A	CA378821671	ECHS1	c.345G>T (p.Lys115Asn) n.408G>T
10	g.133369973C=	CA1946719126	ECHS1	c.345G= (p.Lys115=) n.408G=
10	g.133369973C>G	CA378821673	ECHS1	c.345G>C (p.Lys115Asn) n.408G>C
10	g.133369973C>T	CA5765809	ECHS1	c.345G>A (p.Lys115=) n.408G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10	g.133369974T>A	CA378821675	ECHS1	c.344A>T (p.Lys115Met) n.407A>T
10	g.133369974T>C	CA378821676	ECHS1	c.344A>G (p.Lys115Arg) n.407A>G
10	g.133369974T>G	CA378821679	ECHS1	c.344A>C (p.Lys115Thr) n.407A>C
10	g.133369975T>A	CA378821683	ECHS1	c.343A>T (p.Lys115Ter) n.406A>T
10	g.133369975T>C	CA378821686	ECHS1	c.343A>G (p.Lys115Glu) n.406A>G
10	g.133369975T>G	CA5765810	ECHS1	c.343A>C (p.Lys115Gln) n.406A>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.133369975T=	CA1946719127	ECHS1	c.343A= (p.Lys115=) n.406A=
10	g.133369977_133369979del	CA2611597808	ECHS1	c.341_343del (p.Ser114del) n.404_406del	gnomAD v4
10	g.133369976G>A	CA472224426	ECHS1	c.342C>T (p.Ser114=) n.405C>T
10	g.133369976G>C	CA5765811	ECHS1	c.342C>G (p.Ser114Arg) n.405C>G	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.133369976G=	CA1946719128	ECHS1	c.342C= (p.Ser114=) n.405C=
10	g.133369976G>T	CA378821687	ECHS1	c.342C>A (p.Ser114Arg) n.405C>A
10	g.133369977C>A	CA378821691	ECHS1	c.341G>T (p.Ser114Ile) n.404G>T
10	g.133369977C>G	CA378821693	ECHS1	c.341G>C (p.Ser114Thr) n.404G>C
10	g.133369977C>T	CA378821690	ECHS1	c.341G>A (p.Ser114Asn) n.404G>A
10	g.133369978T>A	CA378821704	ECHS1	c.340A>T (p.Ser114Cys) n.403A>T
10	g.133369978T>C	CA5765812	ECHS1	c.340A>G (p.Ser114Gly) n.403A>G	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.133369978T>G	CA378821712	ECHS1	c.340A>C (p.Ser114Arg) n.403A>C
10	g.133369978T=	CA1946719129	ECHS1	c.340A= (p.Ser114=) n.403A=
10	g.133369979G>A	CA472224454	ECHS1	c.339C>T (p.Ser113=) n.402C>T
10	g.133369979G>C	CA472224457	ECHS1	c.339C>G (p.Ser113=) n.402C>G
10	g.133369979G>T	CA472224459	ECHS1	c.339C>A (p.Ser113=) n.402C>A
10	g.133369980G>A	CA378821719	ECHS1	c.338C>T (p.Ser113Phe) n.401C>T	COSMIC
10	g.133369980G>C	CA378821724	ECHS1	c.338C>G (p.Ser113Cys) n.401C>G	ClinVar dbSNP
10	g.133369980G>T	CA378821726	ECHS1	c.338C>A (p.Ser113Tyr) n.401C>A
10	g.133369981A>C	CA378821730	ECHS1	c.337T>G (p.Ser113Ala) n.400T>G
10	g.133369981A>G	CA378821736	ECHS1	c.337T>C (p.Ser113Pro) n.400T>C
10	g.133369981A>T	CA378821732	ECHS1	c.337T>A (p.Ser113Thr) n.400T>A
10	g.133369982G>A	CA216818566	ECHS1	c.336C>T (p.Tyr112=) n.399C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
10	g.133369982G>C	CA378821739	ECHS1	c.336C>G (p.Tyr112Ter) n.399C>G
10	g.133369982G=	CA1946719130	ECHS1	c.336C= (p.Tyr112=) n.399C=
10	g.133369982G>T	CA378821743	ECHS1	c.336C>A (p.Tyr112Ter) n.399C>A
10	g.133369983T>A	CA378821748	ECHS1	c.335A>T (p.Tyr112Phe) n.398A>T
10	g.133369983T>C	CA378821750	ECHS1	c.335A>G (p.Tyr112Cys) n.398A>G
10	g.133369983T>G	CA378821754	ECHS1	c.335A>C (p.Tyr112Ser) n.398A>C
10	g.133369984A>C	CA378821760	ECHS1	c.334T>G (p.Tyr112Asp) n.397T>G
10	g.133369984A>G	CA378821763	ECHS1	c.334T>C (p.Tyr112His) n.397T>C
10	g.133369984A>T	CA378821759	ECHS1	c.334T>A (p.Tyr112Asn) n.397T>A
10	g.133369985A>C	CA378821767	ECHS1	c.333T>G (p.Cys111Trp) n.396T>G
10	g.133369985A>G	CA472224492	ECHS1	c.333T>C (p.Cys111=) n.396T>C
10	g.133369985A>T	CA378821772	ECHS1	c.333T>A (p.Cys111Ter) n.396T>A
10	g.133369986C>A	CA378821774	ECHS1	c.332G>T (p.Cys111Phe) n.395G>T
10	g.133369986C>G	CA378821777	ECHS1	c.332G>C (p.Cys111Ser) n.395G>C	gnomAD v4
10	g.133369986C>T	CA378821779	ECHS1	c.332G>A (p.Cys111Tyr) n.395G>A
10	g.133369987A>C	CA378821783	ECHS1	c.331T>G (p.Cys111Gly) n.394T>G
10	g.133369987A>G	CA378821781	ECHS1	c.331T>C (p.Cys111Arg) n.394T>C
10	g.133369987A>T	CA378821782	ECHS1	c.331T>A (p.Cys111Ser) n.394T>A
10	g.133369988G>A	CA472224502	ECHS1	c.330C>T (p.Asp110=) n.393C>T
10	g.133369988G>C	CA378821784	ECHS1	c.330C>G (p.Asp110Glu) n.393C>G
10	g.133369988G=	CA1946719131	ECHS1	c.330C= (p.Asp110=) n.393C=
10	g.133369988G>T	CA5765813	ECHS1	c.330C>A (p.Asp110Glu) n.393C>A	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.133369989T>A	CA378821789	ECHS1	c.329A>T (p.Asp110Val) n.392A>T
10	g.133369989T>C	CA378821792	ECHS1	c.329A>G (p.Asp110Gly) n.392A>G
10	g.133369989T>G	CA378821798	ECHS1	c.329A>C (p.Asp110Ala) n.392A>C
10	g.133369990C>A	CA378821809	ECHS1	c.328G>T (p.Asp110Tyr) n.391G>T	gnomAD v4
10	g.133369990C>G	CA378821802	ECHS1	c.328G>C (p.Asp110His) n.391G>C
10	g.133369990C>T	CA378821807	ECHS1	c.328G>A (p.Asp110Asn) n.391G>A
10	g.133369991C>A	CA5765814	ECHS1	c.327G>T (p.Gln109His) n.390G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.133369991C=	CA1946719132	ECHS1	c.327G= (p.Gln109=) n.390G=
10	g.133369991C>G	CA378821812	ECHS1	c.327G>C (p.Gln109His) n.390G>C
10	g.133369991C>T	CA472224536	ECHS1	c.327G>A (p.Gln109=) n.390G>A
10	g.133369992T>A	CA378821813	ECHS1	c.326A>T (p.Gln109Leu) n.389A>T
10	g.133369992T>C	CA378821814	ECHS1	c.326A>G (p.Gln109Arg) n.389A>G
10	g.133369992T>G	CA378821815	ECHS1	c.326A>C (p.Gln109Pro) n.389A>C
10	g.133369993G>A	CA378821816	ECHS1	c.325C>T (p.Gln109Ter) n.388C>T	dbSNP
10	g.133369993G>C	CA378821818	ECHS1	c.325C>G (p.Gln109Glu) n.388C>G
10	g.133369993G>T	CA378821819	ECHS1	c.325C>A (p.Gln109Lys) n.388C>A
10	g.133369994G>A	CA472224553	ECHS1	c.324C>T (p.Phe108=) n.387C>T	gnomAD v4
10	g.133369994G>C	CA378821821	ECHS1	c.324C>G (p.Phe108Leu) n.387C>G
10	g.133369994G>T	CA378821822	ECHS1	c.324C>A (p.Phe108Leu) n.387C>A
10	g.133369994_133369995delinsGA	CA1946719133	ECHS1	c.323_324delinsTC (p.Phe108=) n.386_387delinsTC
10	g.133369995A>C	CA378821823	ECHS1	c.323T>G (p.Phe108Cys) n.386T>G	COSMIC
10	g.133369995A>G	CA378821826	ECHS1	c.323T>C (p.Phe108Ser) n.386T>C
10	g.133369995A>T	CA378821829	ECHS1	c.323T>A (p.Phe108Tyr) n.386T>A
10	g.133369997del	CA1946719134	ECHS1	c.323del (p.Phe108SerfsTer10) n.386del	dbSNP
10	g.133369996A>C	CA378821832	ECHS1	c.322T>G (p.Phe108Val) n.385T>G	gnomAD v4
10	g.133369996A>G	CA378821836	ECHS1	c.322T>C (p.Phe108Leu) n.385T>C
10	g.133369996A>T	CA378821833	ECHS1	c.322T>A (p.Phe108Ile) n.385T>A
10	g.133369997A>C	CA378821838	ECHS1	c.321T>G (p.Ser107Arg) n.384T>G
10	g.133369997A>G	CA472224592	ECHS1	c.321T>C (p.Ser107=) n.384T>C
10	g.133369997A>T	CA378821839	ECHS1	c.321T>A (p.Ser107Arg) n.384T>A
10	g.133369998C>A	CA378821840	ECHS1	c.320G>T (p.Ser107Ile) n.383G>T
10	g.133369998C>G	CA378821841	ECHS1	c.320G>C (p.Ser107Thr) n.383G>C
10	g.133369998C>T	CA378821842	ECHS1	c.320G>A (p.Ser107Asn) n.383G>A
10	g.133369999T>A	CA378821845	ECHS1	c.319A>T (p.Ser107Cys) n.382A>T
10	g.133369999T>C	CA378821847	ECHS1	c.319A>G (p.Ser107Gly) n.382A>G	COSMIC
10	g.133369999T>G	CA378821850	ECHS1	c.319A>C (p.Ser107Arg) n.382A>C
10	g.133370000C>A	CA472224620	ECHS1	c.318G>T (p.Leu106=) n.381G>T
10	g.133370000C>G	CA472224622	ECHS1	c.318G>C (p.Leu106=) n.381G>C
10	g.133370000C>T	CA472224628	ECHS1	c.318G>A (p.Leu106=) n.381G>A
10	g.133370001A>C	CA378821852	ECHS1	c.317T>G (p.Leu106Arg) n.380T>G
10	g.133370001A>G	CA378821854	ECHS1	c.317T>C (p.Leu106Pro) n.380T>C	gnomAD v4
10	g.133370001A>T	CA378821855	ECHS1	c.317T>A (p.Leu106Gln) n.380T>A
10	g.133370002G>A	CA472224640	ECHS1	c.316C>T (p.Leu106=) n.379C>T	dbSNP gnomAD v4
10	g.133370002G>C	CA378821859	ECHS1	c.316C>G (p.Leu106Val) n.379C>G
10	g.133370002G=	CA1946719135	ECHS1	c.316C= (p.Leu106=) n.379C=
10	g.133370002G>T	CA216818571	ECHS1	c.316C>A (p.Leu106Met) n.379C>A	dbSNP gnomAD v3 gnomAD v4
10	g.133370003G>A	CA472224655	ECHS1	c.315C>T (p.Asn105=) n.378C>T	dbSNP gnomAD v4
10	g.133370003G>C	CA378821865	ECHS1	c.315C>G (p.Asn105Lys) n.378C>G
10	g.133370003G=	CA1946719136	ECHS1	c.315C= (p.Asn105=) n.378C=
10	g.133370003G>T	CA378821863	ECHS1	c.315C>A (p.Asn105Lys) n.378C>A
10	g.133370004T>A	CA378821871	ECHS1	c.314A>T (p.Asn105Ile) n.377A>T
10	g.133370004T>C	CA378821874	ECHS1	c.314A>G (p.Asn105Ser) n.377A>G
10	g.133370004T>G	CA378821877	ECHS1	c.314A>C (p.Asn105Thr) n.377A>C
10	g.133370005T>A	CA378821880	ECHS1	c.313A>T (p.Asn105Tyr) n.376A>T
10	g.133370005T>C	CA378821882	ECHS1	c.313A>G (p.Asn105Asp) n.376A>G
10	g.133370005T>G	CA378821884	ECHS1	c.313A>C (p.Asn105His) n.376A>C

Number of alleles fetched