Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
14	g.87945624A=	CA2153356821	GALC	c.1599T= (p.Val533=) c.1530T= (p.Val510=) c.1521T= (p.Val507=) c.1431T= (p.Val477=) c.966T= (p.Val322=) c.206+2104T= c.997T= (n.997T=)
14	g.87945624A>C	CA487355521	GALC	c.1599T>G (p.Val533=) c.1530T>G (p.Val510=) c.1521T>G (p.Val507=) c.1431T>G (p.Val477=) c.966T>G (p.Val322=) c.206+2104T>G c.997T>G (n.997T>G)
14	g.87945624A>G	CA487355523	GALC	c.1599T>C (p.Val533=) c.1530T>C (p.Val510=) c.1521T>C (p.Val507=) c.1431T>C (p.Val477=) c.966T>C (p.Val322=) c.206+2104T>C c.997T>C (n.997T>C)	ClinVar dbSNP gnomAD v2 gnomAD v4
14	g.87945624A>T	CA487355522	GALC	c.1599T>A (p.Val533=) c.1530T>A (p.Val510=) c.1521T>A (p.Val507=) c.1431T>A (p.Val477=) c.966T>A (p.Val322=) c.206+2104T>A c.997T>A (n.997T>A)
14	g.87945625A>C	CA390746102	GALC	c.1598T>G (p.Val533Gly) c.1529T>G (p.Val510Gly) c.1520T>G (p.Val507Gly) c.1430T>G (p.Val477Gly) c.965T>G (p.Val322Gly) c.206+2103T>G c.996T>G (n.996T>G)
14	g.87945625A>G	CA390746103	GALC	c.1598T>C (p.Val533Ala) c.1529T>C (p.Val510Ala) c.1520T>C (p.Val507Ala) c.1430T>C (p.Val477Ala) c.965T>C (p.Val322Ala) c.206+2103T>C c.996T>C (n.996T>C)
14	g.87945625A>T	CA390746104	GALC	c.1598T>A (p.Val533Asp) c.1529T>A (p.Val510Asp) c.1520T>A (p.Val507Asp) c.1430T>A (p.Val477Asp) c.965T>A (p.Val322Asp) c.206+2103T>A c.996T>A (n.996T>A)
14	g.87945626C>A	CA390746105	GALC	c.1597G>T (p.Val533Phe) c.1528G>T (p.Val510Phe) c.1519G>T (p.Val507Phe) c.1429G>T (p.Val477Phe) c.964G>T (p.Val322Phe) c.206+2102G>T c.995G>T (n.995G>T)
14	g.87945626C>G	CA390746106	GALC	c.1597G>C (p.Val533Leu) c.1528G>C (p.Val510Leu) c.1519G>C (p.Val507Leu) c.1429G>C (p.Val477Leu) c.964G>C (p.Val322Leu) c.206+2102G>C c.995G>C (n.995G>C)
14	g.87945626C>T	CA390746107	GALC	c.1597G>A (p.Val533Ile) c.1528G>A (p.Val510Ile) c.1519G>A (p.Val507Ile) c.1429G>A (p.Val477Ile) c.964G>A (p.Val322Ile) c.206+2102G>A c.995G>A (n.995G>A)
14	g.87945627T>A	CA390746109	GALC	c.1596A>T (p.Gln532His) c.1527A>T (p.Gln509His) c.1518A>T (p.Gln506His) c.1428A>T (p.Gln476His) c.963A>T (p.Gln321His) c.206+2101A>T c.994A>T (n.994A>T)
14	g.87945627T>C	CA487355524	GALC	c.1596A>G (p.Gln532=) c.1527A>G (p.Gln509=) c.1518A>G (p.Gln506=) c.1428A>G (p.Gln476=) c.963A>G (p.Gln321=) c.206+2101A>G c.994A>G (n.994A>G)	dbSNP gnomAD v4
14	g.87945627T>G	CA390746108	GALC	c.1596A>C (p.Gln532His) c.1527A>C (p.Gln509His) c.1518A>C (p.Gln506His) c.1428A>C (p.Gln476His) c.963A>C (p.Gln321His) c.206+2101A>C c.994A>C (n.994A>C)
14	g.87945627T=	CA2153356823	GALC	c.1596A= (p.Gln532=) c.1527A= (p.Gln509=) c.1518A= (p.Gln506=) c.1428A= (p.Gln476=) c.963A= (p.Gln321=) c.206+2101A= c.994A= (n.994A=)
14	g.87945628T>A	CA390746110	GALC	c.1595A>T (p.Gln532Leu) c.1526A>T (p.Gln509Leu) c.1517A>T (p.Gln506Leu) c.1427A>T (p.Gln476Leu) c.962A>T (p.Gln321Leu) c.206+2100A>T c.993A>T (n.993A>T)
14	g.87945628T>C	CA7296974	GALC	c.1595A>G (p.Gln532Arg) c.1526A>G (p.Gln509Arg) c.1517A>G (p.Gln506Arg) c.1427A>G (p.Gln476Arg) c.962A>G (p.Gln321Arg) c.206+2100A>G c.993A>G (n.993A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.87945628T>G	CA390746111	GALC	c.1595A>C (p.Gln532Pro) c.1526A>C (p.Gln509Pro) c.1517A>C (p.Gln506Pro) c.1427A>C (p.Gln476Pro) c.962A>C (p.Gln321Pro) c.206+2100A>C c.993A>C (n.993A>C)
14	g.87945628T=	CA2153356829	GALC	c.1595A= (p.Gln532=) c.1526A= (p.Gln509=) c.1517A= (p.Gln506=) c.1427A= (p.Gln476=) c.962A= (p.Gln321=) c.206+2100A= c.993A= (n.993A=)
14	g.87945629G>A	CA390746112	GALC	c.1594C>T (p.Gln532Ter) c.1525C>T (p.Gln509Ter) c.1516C>T (p.Gln506Ter) c.1426C>T (p.Gln476Ter) c.961C>T (p.Gln321Ter) c.206+2099C>T c.992C>T (n.992C>T)
14	g.87945629G>C	CA390746113	GALC	c.1594C>G (p.Gln532Glu) c.1525C>G (p.Gln509Glu) c.1516C>G (p.Gln506Glu) c.1426C>G (p.Gln476Glu) c.961C>G (p.Gln321Glu) c.206+2099C>G c.992C>G (n.992C>G)
14	g.87945629G>T	CA390746114	GALC	c.1594C>A (p.Gln532Lys) c.1525C>A (p.Gln509Lys) c.1516C>A (p.Gln506Lys) c.1426C>A (p.Gln476Lys) c.961C>A (p.Gln321Lys) c.206+2099C>A c.992C>A (n.992C>A)	gnomAD v4
14	g.87945630G>A	CA487355525	GALC	c.1593C>T (p.Arg531=) c.1524C>T (p.Arg508=) c.1515C>T (p.Arg505=) c.1425C>T (p.Arg475=) c.960C>T (p.Arg320=) c.206+2098C>T c.991C>T (n.991C>T)
14	g.87945630G>C	CA487355526	GALC	c.1593C>G (p.Arg531=) c.1524C>G (p.Arg508=) c.1515C>G (p.Arg505=) c.1425C>G (p.Arg475=) c.960C>G (p.Arg320=) c.206+2098C>G c.991C>G (n.991C>G)
14	g.87945630G>T	CA487355527	GALC	c.1593C>A (p.Arg531=) c.1524C>A (p.Arg508=) c.1515C>A (p.Arg505=) c.1425C>A (p.Arg475=) c.960C>A (p.Arg320=) c.206+2098C>A c.991C>A (n.991C>A)
14	g.87945631C>A	CA390746115	GALC	c.1592G>T (p.Arg531Leu) c.1523G>T (p.Arg508Leu) c.1514G>T (p.Arg505Leu) c.1424G>T (p.Arg475Leu) c.959G>T (p.Arg320Leu) c.206+2097G>T c.990G>T (n.990G>T)	ClinVar dbSNP gnomAD v4
14	g.87945631C=	CA2153356834	GALC	c.1592G= (p.Arg531=) c.1523G= (p.Arg508=) c.1514G= (p.Arg505=) c.1424G= (p.Arg475=) c.959G= (p.Arg320=) c.206+2097G= c.990G= (n.990G=)
14	g.87945631C>G	CA390746116	GALC	c.1592G>C (p.Arg531Pro) c.1523G>C (p.Arg508Pro) c.1514G>C (p.Arg505Pro) c.1424G>C (p.Arg475Pro) c.959G>C (p.Arg320Pro) c.206+2097G>C c.990G>C (n.990G>C)	ClinVar dbSNP
14	g.87945631C>T	CA234058	GALC	c.1592G>A (p.Arg531His) c.1523G>A (p.Arg508His) c.1514G>A (p.Arg505His) c.1424G>A (p.Arg475His) c.959G>A (p.Arg320His) c.206+2097G>A c.990G>A (n.990G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14	g.87945632G>A	CA274231	GALC	c.1591C>T (p.Arg531Cys) c.1522C>T (p.Arg508Cys) c.1513C>T (p.Arg505Cys) c.1423C>T (p.Arg475Cys) c.958C>T (p.Arg320Cys) c.206+2096C>T c.989C>T (n.989C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.87945632G>C	CA390746117	GALC	c.1591C>G (p.Arg531Gly) c.1522C>G (p.Arg508Gly) c.1513C>G (p.Arg505Gly) c.1423C>G (p.Arg475Gly) c.958C>G (p.Arg320Gly) c.206+2096C>G c.989C>G (n.989C>G)
14	g.87945632G=	CA2153356840	GALC	c.1591C= (p.Arg531=) c.1522C= (p.Arg508=) c.1513C= (p.Arg505=) c.1423C= (p.Arg475=) c.958C= (p.Arg320=) c.206+2096C= c.989C= (n.989C=)
14	g.87945632G>T	CA390746118	GALC	c.1591C>A (p.Arg531Ser) c.1522C>A (p.Arg508Ser) c.1513C>A (p.Arg505Ser) c.1423C>A (p.Arg475Ser) c.958C>A (p.Arg320Ser) c.206+2096C>A c.989C>A (n.989C>A)	gnomAD v4
14	g.87945633T>A	CA487355528	GALC	c.1590A>T (p.Leu530=) c.1521A>T (p.Leu507=) c.1512A>T (p.Leu504=) c.1422A>T (p.Leu474=) c.957A>T (p.Leu319=) c.206+2095A>T c.988A>T (n.988A>T)	ClinVar dbSNP gnomAD v4
14	g.87945633T>C	CA487355529	GALC	c.1590A>G (p.Leu530=) c.1521A>G (p.Leu507=) c.1512A>G (p.Leu504=) c.1422A>G (p.Leu474=) c.957A>G (p.Leu319=) c.206+2095A>G c.988A>G (n.988A>G)
14	g.87945633T>G	CA487355530	GALC	c.1590A>C (p.Leu530=) c.1521A>C (p.Leu507=) c.1512A>C (p.Leu504=) c.1422A>C (p.Leu474=) c.957A>C (p.Leu319=) c.206+2095A>C c.988A>C (n.988A>C)
14	g.87945634A>C	CA390746121	GALC	c.1589T>G (p.Leu530Arg) c.1520T>G (p.Leu507Arg) c.1511T>G (p.Leu504Arg) c.1421T>G (p.Leu474Arg) c.956T>G (p.Leu319Arg) c.206+2094T>G c.987T>G (n.987T>G)
14	g.87945634A>G	CA390746120	GALC	c.1589T>C (p.Leu530Pro) c.1520T>C (p.Leu507Pro) c.1511T>C (p.Leu504Pro) c.1421T>C (p.Leu474Pro) c.956T>C (p.Leu319Pro) c.206+2094T>C c.987T>C (n.987T>C)	ClinVar dbSNP
14	g.87945634A>T	CA390746119	GALC	c.1589T>A (p.Leu530Gln) c.1520T>A (p.Leu507Gln) c.1511T>A (p.Leu504Gln) c.1421T>A (p.Leu474Gln) c.956T>A (p.Leu319Gln) c.206+2094T>A c.987T>A (n.987T>A)
14	g.87945635G>A	CA487355531	GALC	c.1588C>T (p.Leu530=) c.1519C>T (p.Leu507=) c.1510C>T (p.Leu504=) c.1420C>T (p.Leu474=) c.955C>T (p.Leu319=) c.206+2093C>T c.986C>T (n.986C>T)
14	g.87945635G>C	CA390746122	GALC	c.1588C>G (p.Leu530Val) c.1519C>G (p.Leu507Val) c.1510C>G (p.Leu504Val) c.1420C>G (p.Leu474Val) c.955C>G (p.Leu319Val) c.206+2093C>G c.986C>G (n.986C>G)	gnomAD v4
14	g.87945635G>T	CA390746123	GALC	c.1588C>A (p.Leu530Ile) c.1519C>A (p.Leu507Ile) c.1510C>A (p.Leu504Ile) c.1420C>A (p.Leu474Ile) c.955C>A (p.Leu319Ile) c.206+2093C>A c.986C>A (n.986C>A)
14	g.87945636C>A	CA487355532	GALC	c.1587G>T (p.Thr529=) c.1518G>T (p.Thr506=) c.1509G>T (p.Thr503=) c.1419G>T (p.Thr473=) c.954G>T (p.Thr318=) c.206+2092G>T c.985G>T (n.985G>T)	ClinVar dbSNP
14	g.87945636C=	CA2153356844	GALC	c.1587G= (p.Thr529=) c.1518G= (p.Thr506=) c.1509G= (p.Thr503=) c.1419G= (p.Thr473=) c.954G= (p.Thr318=) c.206+2092G= c.985G= (n.985G=)
14	g.87945636C>G	CA487355533	GALC	c.1587G>C (p.Thr529=) c.1518G>C (p.Thr506=) c.1509G>C (p.Thr503=) c.1419G>C (p.Thr473=) c.954G>C (p.Thr318=) c.206+2092G>C c.985G>C (n.985G>C)
14	g.87945636C>T	CA7296975	GALC	c.1587G>A (p.Thr529=) c.1518G>A (p.Thr506=) c.1509G>A (p.Thr503=) c.1419G>A (p.Thr473=) c.954G>A (p.Thr318=) c.206+2092G>A c.985G>A (n.985G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.87945637G>A	CA7296976	GALC	c.1586C>T (p.Thr529Met) c.1517C>T (p.Thr506Met) c.1508C>T (p.Thr503Met) c.1418C>T (p.Thr473Met) c.953C>T (p.Thr318Met) c.206+2091C>T c.984C>T (n.984C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.87945637G>C	CA390746124	GALC	c.1586C>G (p.Thr529Arg) c.1517C>G (p.Thr506Arg) c.1508C>G (p.Thr503Arg) c.1418C>G (p.Thr473Arg) c.953C>G (p.Thr318Arg) c.206+2091C>G c.984C>G (n.984C>G)
14	g.87945637G=	CA2153356851	GALC	c.1586C= (p.Thr529=) c.1517C= (p.Thr506=) c.1508C= (p.Thr503=) c.1418C= (p.Thr473=) c.953C= (p.Thr318=) c.206+2091C= c.984C= (n.984C=)
14	g.87945637G>T	CA390746125	GALC	c.1586C>A (p.Thr529Lys) c.1517C>A (p.Thr506Lys) c.1508C>A (p.Thr503Lys) c.1418C>A (p.Thr473Lys) c.953C>A (p.Thr318Lys) c.206+2091C>A c.984C>A (n.984C>A)	dbSNP gnomAD v4
14	g.87945638T>A	CA390746126	GALC	c.1585A>T (p.Thr529Ser) c.1516A>T (p.Thr506Ser) c.1507A>T (p.Thr503Ser) c.1417A>T (p.Thr473Ser) c.952A>T (p.Thr318Ser) c.206+2090A>T c.983A>T (n.983A>T)
14	g.87945638T>C	CA390746127	GALC	c.1585A>G (p.Thr529Ala) c.1516A>G (p.Thr506Ala) c.1507A>G (p.Thr503Ala) c.1417A>G (p.Thr473Ala) c.952A>G (p.Thr318Ala) c.206+2090A>G c.983A>G (n.983A>G)
14	g.87945638T>G	CA390746128	GALC	c.1585A>C (p.Thr529Pro) c.1516A>C (p.Thr506Pro) c.1507A>C (p.Thr503Pro) c.1417A>C (p.Thr473Pro) c.952A>C (p.Thr318Pro) c.206+2090A>C c.983A>C (n.983A>C)
14	g.87945639G>A	CA7296977	GALC	c.1584C>T (p.Phe528=) c.1515C>T (p.Phe505=) c.1506C>T (p.Phe502=) c.1416C>T (p.Phe472=) c.951C>T (p.Phe317=) c.206+2089C>T c.982C>T (n.982C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14	g.87945639G>C	CA390746129	GALC	c.1584C>G (p.Phe528Leu) c.1515C>G (p.Phe505Leu) c.1506C>G (p.Phe502Leu) c.1416C>G (p.Phe472Leu) c.951C>G (p.Phe317Leu) c.206+2089C>G c.982C>G (n.982C>G)
14	g.87945639G=	CA2153356858	GALC	c.1584C= (p.Phe528=) c.1515C= (p.Phe505=) c.1506C= (p.Phe502=) c.1416C= (p.Phe472=) c.951C= (p.Phe317=) c.206+2089C= c.982C= (n.982C=)
14	g.87945639G>T	CA390746130	GALC	c.1584C>A (p.Phe528Leu) c.1515C>A (p.Phe505Leu) c.1506C>A (p.Phe502Leu) c.1416C>A (p.Phe472Leu) c.951C>A (p.Phe317Leu) c.206+2089C>A c.982C>A (n.982C>A)	gnomAD v4
14	g.87945640A>C	CA390746132	GALC	c.1583T>G (p.Phe528Cys) c.1514T>G (p.Phe505Cys) c.1505T>G (p.Phe502Cys) c.1415T>G (p.Phe472Cys) c.950T>G (p.Phe317Cys) c.206+2088T>G c.981T>G (n.981T>G)
14	g.87945640A>G	CA390746133	GALC	c.1583T>C (p.Phe528Ser) c.1514T>C (p.Phe505Ser) c.1505T>C (p.Phe502Ser) c.1415T>C (p.Phe472Ser) c.950T>C (p.Phe317Ser) c.206+2088T>C c.981T>C (n.981T>C)
14	g.87945640A>T	CA390746131	GALC	c.1583T>A (p.Phe528Tyr) c.1514T>A (p.Phe505Tyr) c.1505T>A (p.Phe502Tyr) c.1415T>A (p.Phe472Tyr) c.950T>A (p.Phe317Tyr) c.206+2088T>A c.981T>A (n.981T>A)
14	g.87945641A>C	CA390746134	GALC	c.1582T>G (p.Phe528Val) c.1513T>G (p.Phe505Val) c.1504T>G (p.Phe502Val) c.1414T>G (p.Phe472Val) c.949T>G (p.Phe317Val) c.206+2087T>G c.980T>G (n.980T>G)
14	g.87945641A>G	CA390746135	GALC	c.1582T>C (p.Phe528Leu) c.1513T>C (p.Phe505Leu) c.1504T>C (p.Phe502Leu) c.1414T>C (p.Phe472Leu) c.949T>C (p.Phe317Leu) c.206+2087T>C c.980T>C (n.980T>C)
14	g.87945641A>T	CA390746136	GALC	c.1582T>A (p.Phe528Ile) c.1513T>A (p.Phe505Ile) c.1504T>A (p.Phe502Ile) c.1414T>A (p.Phe472Ile) c.949T>A (p.Phe317Ile) c.206+2087T>A c.980T>A (n.980T>A)
14	g.87945642G>A	CA487355534	GALC	c.1581C>T (p.His527=) c.1512C>T (p.His504=) c.1503C>T (p.His501=) c.1413C>T (p.His471=) c.948C>T (p.His316=) c.206+2086C>T c.979C>T (n.979C>T)
14	g.87945642G>C	CA390746137	GALC	c.1581C>G (p.His527Gln) c.1512C>G (p.His504Gln) c.1503C>G (p.His501Gln) c.1413C>G (p.His471Gln) c.948C>G (p.His316Gln) c.206+2086C>G c.979C>G (n.979C>G)
14	g.87945642G>T	CA390746138	GALC	c.1581C>A (p.His527Gln) c.1512C>A (p.His504Gln) c.1503C>A (p.His501Gln) c.1413C>A (p.His471Gln) c.948C>A (p.His316Gln) c.206+2086C>A c.979C>A (n.979C>A)
14	g.87945643T>A	CA390746141	GALC	c.1580A>T (p.His527Leu) c.1511A>T (p.His504Leu) c.1502A>T (p.His501Leu) c.1412A>T (p.His471Leu) c.947A>T (p.His316Leu) c.206+2085A>T c.978A>T (n.978A>T)
14	g.87945643T>C	CA390746139	GALC	c.1580A>G (p.His527Arg) c.1511A>G (p.His504Arg) c.1502A>G (p.His501Arg) c.1412A>G (p.His471Arg) c.947A>G (p.His316Arg) c.206+2085A>G c.978A>G (n.978A>G)
14	g.87945643T>G	CA390746140	GALC	c.1580A>C (p.His527Pro) c.1511A>C (p.His504Pro) c.1502A>C (p.His501Pro) c.1412A>C (p.His471Pro) c.947A>C (p.His316Pro) c.206+2085A>C c.978A>C (n.978A>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.87945643T=	CA2153356864	GALC	c.1580A= (p.His527=) c.1511A= (p.His504=) c.1502A= (p.His501=) c.1412A= (p.His471=) c.947A= (p.His316=) c.206+2085A= c.978A= (n.978A=)
14	g.87945644G>A	CA390746142	GALC	c.1579C>T (p.His527Tyr) c.1510C>T (p.His504Tyr) c.1501C>T (p.His501Tyr) c.1411C>T (p.His471Tyr) c.946C>T (p.His316Tyr) c.206+2084C>T c.977C>T (n.977C>T)	COSMIC COSMIC
14	g.87945644G>C	CA390746143	GALC	c.1579C>G (p.His527Asp) c.1510C>G (p.His504Asp) c.1501C>G (p.His501Asp) c.1411C>G (p.His471Asp) c.946C>G (p.His316Asp) c.206+2084C>G c.977C>G (n.977C>G)
14	g.87945644G>T	CA390746144	GALC	c.1579C>A (p.His527Asn) c.1510C>A (p.His504Asn) c.1501C>A (p.His501Asn) c.1411C>A (p.His471Asn) c.946C>A (p.His316Asn) c.206+2084C>A c.977C>A (n.977C>A)
14	g.87945645A>C	CA390746145	GALC	c.1578T>G (p.His526Gln) c.1509T>G (p.His503Gln) c.1500T>G (p.His500Gln) c.1410T>G (p.His470Gln) c.945T>G (p.His315Gln) c.206+2083T>G c.976T>G (n.976T>G)
14	g.87945645A>G	CA487355535	GALC	c.1578T>C (p.His526=) c.1509T>C (p.His503=) c.1500T>C (p.His500=) c.1410T>C (p.His470=) c.945T>C (p.His315=) c.206+2083T>C c.976T>C (n.976T>C)
14	g.87945645A>T	CA390746146	GALC	c.1578T>A (p.His526Gln) c.1509T>A (p.His503Gln) c.1500T>A (p.His500Gln) c.1410T>A (p.His470Gln) c.945T>A (p.His315Gln) c.206+2083T>A c.976T>A (n.976T>A)
14	g.87945646T>A	CA390746149	GALC	c.1577A>T (p.His526Leu) c.1508A>T (p.His503Leu) c.1499A>T (p.His500Leu) c.1409A>T (p.His470Leu) c.944A>T (p.His315Leu) c.206+2082A>T c.975A>T (n.975A>T)
14	g.87945646T>C	CA390746148	GALC	c.1577A>G (p.His526Arg) c.1508A>G (p.His503Arg) c.1499A>G (p.His500Arg) c.1409A>G (p.His470Arg) c.944A>G (p.His315Arg) c.206+2082A>G c.975A>G (n.975A>G)	ClinVar dbSNP gnomAD v4
14	g.87945646T>G	CA390746147	GALC	c.1577A>C (p.His526Pro) c.1508A>C (p.His503Pro) c.1499A>C (p.His500Pro) c.1409A>C (p.His470Pro) c.944A>C (p.His315Pro) c.206+2082A>C c.975A>C (n.975A>C)
14	g.87945647G>A	CA390746150	GALC	c.1576C>T (p.His526Tyr) c.1507C>T (p.His503Tyr) c.1498C>T (p.His500Tyr) c.1408C>T (p.His470Tyr) c.943C>T (p.His315Tyr) c.206+2081C>T c.974C>T (n.974C>T)
14	g.87945647G>C	CA390746152	GALC	c.1576C>G (p.His526Asp) c.1507C>G (p.His503Asp) c.1498C>G (p.His500Asp) c.1408C>G (p.His470Asp) c.943C>G (p.His315Asp) c.206+2081C>G c.974C>G (n.974C>G)
14	g.87945647G>T	CA390746151	GALC	c.1576C>A (p.His526Asn) c.1507C>A (p.His503Asn) c.1498C>A (p.His500Asn) c.1408C>A (p.His470Asn) c.943C>A (p.His315Asn) c.206+2081C>A c.974C>A (n.974C>A)
14	g.87945648C>A	CA390746153	GALC	c.1575G>T (p.Glu525Asp) c.1506G>T (p.Glu502Asp) c.1497G>T (p.Glu499Asp) c.1407G>T (p.Glu469Asp) c.942G>T (p.Glu314Asp) c.206+2080G>T c.973G>T (n.973G>T)
14	g.87945648C=	CA2153356869	GALC	c.1575G= (p.Glu525=) c.1506G= (p.Glu502=) c.1497G= (p.Glu499=) c.1407G= (p.Glu469=) c.942G= (p.Glu314=) c.206+2080G= c.973G= (n.973G=)
14	g.87945648C>G	CA390746154	GALC	c.1575G>C (p.Glu525Asp) c.1506G>C (p.Glu502Asp) c.1497G>C (p.Glu499Asp) c.1407G>C (p.Glu469Asp) c.942G>C (p.Glu314Asp) c.206+2080G>C c.973G>C (n.973G>C)
14	g.87945648C>T	CA7296978	GALC	c.1575G>A (p.Glu525=) c.1506G>A (p.Glu502=) c.1497G>A (p.Glu499=) c.1407G>A (p.Glu469=) c.942G>A (p.Glu314=) c.206+2080G>A c.973G>A (n.973G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.87945649T>A	CA390746155	GALC	c.1574A>T (p.Glu525Val) c.1505A>T (p.Glu502Val) c.1496A>T (p.Glu499Val) c.1406A>T (p.Glu469Val) c.941A>T (p.Glu314Val) c.206+2079A>T c.972A>T (n.972A>T)
14	g.87945649T>C	CA390746157	GALC	c.1574A>G (p.Glu525Gly) c.1505A>G (p.Glu502Gly) c.1496A>G (p.Glu499Gly) c.1406A>G (p.Glu469Gly) c.941A>G (p.Glu314Gly) c.206+2079A>G c.972A>G (n.972A>G)
14	g.87945649T>G	CA390746156	GALC	c.1574A>C (p.Glu525Ala) c.1505A>C (p.Glu502Ala) c.1496A>C (p.Glu499Ala) c.1406A>C (p.Glu469Ala) c.941A>C (p.Glu314Ala) c.206+2079A>C c.972A>C (n.972A>C)
14	g.87945650C>A	CA390746158	GALC	c.1573G>T (p.Glu525Ter) c.1504G>T (p.Glu502Ter) c.1495G>T (p.Glu499Ter) c.1405G>T (p.Glu469Ter) c.940G>T (p.Glu314Ter) c.206+2078G>T c.971G>T (n.971G>T)
14	g.87945650C=	CA2153356875	GALC	c.1573G= (p.Glu525=) c.1504G= (p.Glu502=) c.1495G= (p.Glu499=) c.1405G= (p.Glu469=) c.940G= (p.Glu314=) c.206+2078G= c.971G= (n.971G=)
14	g.87945650C>G	CA390746159	GALC	c.1573G>C (p.Glu525Gln) c.1504G>C (p.Glu502Gln) c.1495G>C (p.Glu499Gln) c.1405G>C (p.Glu469Gln) c.940G>C (p.Glu314Gln) c.206+2078G>C c.971G>C (n.971G>C)
14	g.87945650C>T	CA7296979	GALC	c.1573G>A (p.Glu525Lys) c.1504G>A (p.Glu502Lys) c.1495G>A (p.Glu499Lys) c.1405G>A (p.Glu469Lys) c.940G>A (p.Glu314Lys) c.206+2078G>A c.971G>A (n.971G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.87945651G>A	CA7296980	GALC	c.1572C>T (p.Gly524=) c.1503C>T (p.Gly501=) c.1494C>T (p.Gly498=) c.1404C>T (p.Gly468=) c.939C>T (p.Gly313=) c.206+2077C>T c.970C>T (n.970C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.87945651G>C	CA487355536	GALC	c.1572C>G (p.Gly524=) c.1503C>G (p.Gly501=) c.1494C>G (p.Gly498=) c.1404C>G (p.Gly468=) c.939C>G (p.Gly313=) c.206+2077C>G c.970C>G (n.970C>G)
14	g.87945651G=	CA2153356881	GALC	c.1572C= (p.Gly524=) c.1503C= (p.Gly501=) c.1494C= (p.Gly498=) c.1404C= (p.Gly468=) c.939C= (p.Gly313=) c.206+2077C= c.970C= (n.970C=)
14	g.87945651G>T	CA487355537	GALC	c.1572C>A (p.Gly524=) c.1503C>A (p.Gly501=) c.1494C>A (p.Gly498=) c.1404C>A (p.Gly468=) c.939C>A (p.Gly313=) c.206+2077C>A c.970C>A (n.970C>A)	ClinVar gnomAD v4
14	g.87945652C>A	CA390746160	GALC	c.1571G>T (p.Gly524Val) c.1502G>T (p.Gly501Val) c.1493G>T (p.Gly498Val) c.1403G>T (p.Gly468Val) c.938G>T (p.Gly313Val) c.206+2076G>T c.969G>T (n.969G>T)
14	g.87945652C>G	CA390746161	GALC	c.1571G>C (p.Gly524Ala) c.1502G>C (p.Gly501Ala) c.1493G>C (p.Gly498Ala) c.1403G>C (p.Gly468Ala) c.938G>C (p.Gly313Ala) c.206+2076G>C c.969G>C (n.969G>C)
14	g.87945652C>T	CA390746162	GALC	c.1571G>A (p.Gly524Asp) c.1502G>A (p.Gly501Asp) c.1493G>A (p.Gly498Asp) c.1403G>A (p.Gly468Asp) c.938G>A (p.Gly313Asp) c.206+2076G>A c.969G>A (n.969G>A)
14	g.87945653del	CA2739279787	GALC	c.1571del (p.Gly524AlafsTer29) c.1502del (p.Gly501AlafsTer29) c.1493del (p.Gly498AlafsTer29) c.1403del (p.Gly468AlafsTer29) c.938del (p.Gly313AlafsTer29) c.206+2076del c.969del (n.969del)	ClinVar
14	g.87945653C>A	CA390746163	GALC	c.1570G>T (p.Gly524Cys) c.1501G>T (p.Gly501Cys) c.1492G>T (p.Gly498Cys) c.1402G>T (p.Gly468Cys) c.937G>T (p.Gly313Cys) c.206+2075G>T c.968G>T (n.968G>T)
14	g.87945653C>G	CA390746164	GALC	c.1570G>C (p.Gly524Arg) c.1501G>C (p.Gly501Arg) c.1492G>C (p.Gly498Arg) c.1402G>C (p.Gly468Arg) c.937G>C (p.Gly313Arg) c.206+2075G>C c.968G>C (n.968G>C)
14	g.87945653C>T	CA390746165	GALC	c.1570G>A (p.Gly524Ser) c.1501G>A (p.Gly501Ser) c.1492G>A (p.Gly498Ser) c.1402G>A (p.Gly468Ser) c.937G>A (p.Gly313Ser) c.206+2075G>A c.968G>A (n.968G>A)
14	g.87945654A>C	CA487355538	GALC	c.1569T>G (p.Pro523=) c.1500T>G (p.Pro500=) c.1491T>G (p.Pro497=) c.1401T>G (p.Pro467=) c.936T>G (p.Pro312=) c.206+2074T>G c.967T>G (n.967T>G)
14	g.87945654A>G	CA487355539	GALC	c.1569T>C (p.Pro523=) c.1500T>C (p.Pro500=) c.1491T>C (p.Pro497=) c.1401T>C (p.Pro467=) c.936T>C (p.Pro312=) c.206+2074T>C c.967T>C (n.967T>C)
14	g.87945654A>T	CA487355540	GALC	c.1569T>A (p.Pro523=) c.1500T>A (p.Pro500=) c.1491T>A (p.Pro497=) c.1401T>A (p.Pro467=) c.936T>A (p.Pro312=) c.206+2074T>A c.967T>A (n.967T>A)
14	g.87945655G>A	CA390746166	GALC	c.1568C>T (p.Pro523Leu) c.1499C>T (p.Pro500Leu) c.1490C>T (p.Pro497Leu) c.1400C>T (p.Pro467Leu) c.935C>T (p.Pro312Leu) c.206+2073C>T c.966C>T (n.966C>T)
14	g.87945655G>C	CA390746167	GALC	c.1568C>G (p.Pro523Arg) c.1499C>G (p.Pro500Arg) c.1490C>G (p.Pro497Arg) c.1400C>G (p.Pro467Arg) c.935C>G (p.Pro312Arg) c.206+2073C>G c.966C>G (n.966C>G)
14	g.87945655G>T	CA390746168	GALC	c.1568C>A (p.Pro523His) c.1499C>A (p.Pro500His) c.1490C>A (p.Pro497His) c.1400C>A (p.Pro467His) c.935C>A (p.Pro312His) c.206+2073C>A c.966C>A (n.966C>A)
14	g.87945656G>A	CA390746170	GALC	c.1567C>T (p.Pro523Ser) c.1498C>T (p.Pro500Ser) c.1489C>T (p.Pro497Ser) c.1399C>T (p.Pro467Ser) c.934C>T (p.Pro312Ser) c.206+2072C>T c.965C>T (n.965C>T)	dbSNP gnomAD v2 gnomAD v4
14	g.87945656G>C	CA390746169	GALC	c.1567C>G (p.Pro523Ala) c.1498C>G (p.Pro500Ala) c.1489C>G (p.Pro497Ala) c.1399C>G (p.Pro467Ala) c.934C>G (p.Pro312Ala) c.206+2072C>G c.965C>G (n.965C>G)
14	g.87945656G=	CA2153356884	GALC	c.1567C= (p.Pro523=) c.1498C= (p.Pro500=) c.1489C= (p.Pro497=) c.1399C= (p.Pro467=) c.934C= (p.Pro312=) c.206+2072C= c.965C= (n.965C=)
14	g.87945656G>T	CA10605535	GALC	c.1567C>A (p.Pro523Thr) c.1498C>A (p.Pro500Thr) c.1489C>A (p.Pro497Thr) c.1399C>A (p.Pro467Thr) c.934C>A (p.Pro312Thr) c.206+2072C>A c.965C>A (n.965C>A)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.87945657G>A	CA487355541	GALC	c.1566C>T (p.Asp522=) c.1497C>T (p.Asp499=) c.1488C>T (p.Asp496=) c.1398C>T (p.Asp466=) c.933C>T (p.Asp311=) c.206+2071C>T c.964C>T (n.964C>T)	gnomAD v4
14	g.87945657G>C	CA390746171	GALC	c.1566C>G (p.Asp522Glu) c.1497C>G (p.Asp499Glu) c.1488C>G (p.Asp496Glu) c.1398C>G (p.Asp466Glu) c.933C>G (p.Asp311Glu) c.206+2071C>G c.964C>G (n.964C>G)
14	g.87945657G=	CA2153356889	GALC	c.1566C= (p.Asp522=) c.1497C= (p.Asp499=) c.1488C= (p.Asp496=) c.1398C= (p.Asp466=) c.933C= (p.Asp311=) c.206+2071C= c.964C= (n.964C=)
14	g.87945657G>T	CA7296981	GALC	c.1566C>A (p.Asp522Glu) c.1497C>A (p.Asp499Glu) c.1488C>A (p.Asp496Glu) c.1398C>A (p.Asp466Glu) c.933C>A (p.Asp311Glu) c.206+2071C>A c.964C>A (n.964C>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.87945658T>A	CA390746172	GALC	c.1565A>T (p.Asp522Val) c.1496A>T (p.Asp499Val) c.1487A>T (p.Asp496Val) c.1397A>T (p.Asp466Val) c.932A>T (p.Asp311Val) c.206+2070A>T c.963A>T (n.963A>T)
14	g.87945658T>C	CA390746173	GALC	c.1565A>G (p.Asp522Gly) c.1496A>G (p.Asp499Gly) c.1487A>G (p.Asp496Gly) c.1397A>G (p.Asp466Gly) c.932A>G (p.Asp311Gly) c.206+2070A>G c.963A>G (n.963A>G)
14	g.87945658T>G	CA390746174	GALC	c.1565A>C (p.Asp522Ala) c.1496A>C (p.Asp499Ala) c.1487A>C (p.Asp496Ala) c.1397A>C (p.Asp466Ala) c.932A>C (p.Asp311Ala) c.206+2070A>C c.963A>C (n.963A>C)
14	g.87945659C>A	CA390746175	GALC	c.1564G>T (p.Asp522Tyr) c.1495G>T (p.Asp499Tyr) c.1486G>T (p.Asp496Tyr) c.1396G>T (p.Asp466Tyr) c.931G>T (p.Asp311Tyr) c.206+2069G>T c.962G>T (n.962G>T)
14	g.87945659C>G	CA390746176	GALC	c.1564G>C (p.Asp522His) c.1495G>C (p.Asp499His) c.1486G>C (p.Asp496His) c.1396G>C (p.Asp466His) c.931G>C (p.Asp311His) c.206+2069G>C c.962G>C (n.962G>C)
14	g.87945659C>T	CA390746177	GALC	c.1564G>A (p.Asp522Asn) c.1495G>A (p.Asp499Asn) c.1486G>A (p.Asp496Asn) c.1396G>A (p.Asp466Asn) c.931G>A (p.Asp311Asn) c.206+2069G>A c.962G>A (n.962G>A)
14	g.87945660T>A	CA390746178	GALC	c.1563A>T (p.Glu521Asp) c.1494A>T (p.Glu498Asp) c.1485A>T (p.Glu495Asp) c.1395A>T (p.Glu465Asp) c.930A>T (p.Glu310Asp) c.206+2068A>T c.961A>T (n.961A>T)
14	g.87945660T>C	CA487355542	GALC	c.1563A>G (p.Glu521=) c.1494A>G (p.Glu498=) c.1485A>G (p.Glu495=) c.1395A>G (p.Glu465=) c.930A>G (p.Glu310=) c.206+2068A>G c.961A>G (n.961A>G)
14	g.87945660T>G	CA390746179	GALC	c.1563A>C (p.Glu521Asp) c.1494A>C (p.Glu498Asp) c.1485A>C (p.Glu495Asp) c.1395A>C (p.Glu465Asp) c.930A>C (p.Glu310Asp) c.206+2068A>C c.961A>C (n.961A>C)
14	g.87945661T>A	CA390746181	GALC	c.1562A>T (p.Glu521Val) c.1493A>T (p.Glu498Val) c.1484A>T (p.Glu495Val) c.1394A>T (p.Glu465Val) c.929A>T (p.Glu310Val) c.206+2067A>T c.960A>T (n.960A>T)
14	g.87945661T>C	CA7296982	GALC	c.1562A>G (p.Glu521Gly) c.1493A>G (p.Glu498Gly) c.1484A>G (p.Glu495Gly) c.1394A>G (p.Glu465Gly) c.929A>G (p.Glu310Gly) c.206+2067A>G c.960A>G (n.960A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.87945661T>G	CA390746180	GALC	c.1562A>C (p.Glu521Ala) c.1493A>C (p.Glu498Ala) c.1484A>C (p.Glu495Ala) c.1394A>C (p.Glu465Ala) c.929A>C (p.Glu310Ala) c.206+2067A>C c.960A>C (n.960A>C)
14	g.87945661T=	CA2153356893	GALC	c.1562A= (p.Glu521=) c.1493A= (p.Glu498=) c.1484A= (p.Glu495=) c.1394A= (p.Glu465=) c.929A= (p.Glu310=) c.206+2067A= c.960A= (n.960A=)
14	g.87945662C>A	CA390746182	GALC	c.1561G>T (p.Glu521Ter) c.1492G>T (p.Glu498Ter) c.1483G>T (p.Glu495Ter) c.1393G>T (p.Glu465Ter) c.928G>T (p.Glu310Ter) c.206+2066G>T c.959G>T (n.959G>T)
14	g.87945662C=	CA2153356901	GALC	c.1561G= (p.Glu521=) c.1492G= (p.Glu498=) c.1483G= (p.Glu495=) c.1393G= (p.Glu465=) c.928G= (p.Glu310=) c.206+2066G= c.959G= (n.959G=)
14	g.87945662C>G	CA390746183	GALC	c.1561G>C (p.Glu521Gln) c.1492G>C (p.Glu498Gln) c.1483G>C (p.Glu495Gln) c.1393G>C (p.Glu465Gln) c.928G>C (p.Glu310Gln) c.206+2066G>C c.959G>C (n.959G>C)
14	g.87945662C>T	CA390746184	GALC	c.1561G>A (p.Glu521Lys) c.1492G>A (p.Glu498Lys) c.1483G>A (p.Glu495Lys) c.1393G>A (p.Glu465Lys) c.928G>A (p.Glu310Lys) c.206+2066G>A c.959G>A (n.959G>A)	ClinVar dbSNP gnomAD v4
14	g.87945663A>C	CA390746185	GALC	c.1560T>G (p.Ile520Met) c.1491T>G (p.Ile497Met) c.1482T>G (p.Ile494Met) c.1392T>G (p.Ile464Met) c.927T>G (p.Ile309Met) c.206+2065T>G c.958T>G (n.958T>G)	COSMIC COSMIC
14	g.87945663A>G	CA487355543	GALC	c.1560T>C (p.Ile520=) c.1491T>C (p.Ile497=) c.1482T>C (p.Ile494=) c.1392T>C (p.Ile464=) c.927T>C (p.Ile309=) c.206+2065T>C c.958T>C (n.958T>C)
14	g.87945663A>T	CA487355544	GALC	c.1560T>A (p.Ile520=) c.1491T>A (p.Ile497=) c.1482T>A (p.Ile494=) c.1392T>A (p.Ile464=) c.927T>A (p.Ile309=) c.206+2065T>A c.958T>A (n.958T>A)
14	g.87945664del	CA2802492053	GALC	c.1560del (p.Ile520MetfsTer?) c.1491del (p.Ile497MetfsTer?) c.1482del (p.Ile494MetfsTer?) c.1392del (p.Ile464MetfsTer?) c.927del (p.Ile309MetfsTer?) c.206+2065del c.958del (n.958del)
14	g.87945664A>C	CA390746186	GALC	c.1559T>G (p.Ile520Ser) c.1490T>G (p.Ile497Ser) c.1481T>G (p.Ile494Ser) c.1391T>G (p.Ile464Ser) c.926T>G (p.Ile309Ser) c.206+2064T>G c.957T>G (n.957T>G)
14	g.87945664A>G	CA390746187	GALC	c.1559T>C (p.Ile520Thr) c.1490T>C (p.Ile497Thr) c.1481T>C (p.Ile494Thr) c.1391T>C (p.Ile464Thr) c.926T>C (p.Ile309Thr) c.206+2064T>C c.957T>C (n.957T>C)
14	g.87945664A>T	CA390746188	GALC	c.1559T>A (p.Ile520Asn) c.1490T>A (p.Ile497Asn) c.1481T>A (p.Ile494Asn) c.1391T>A (p.Ile464Asn) c.926T>A (p.Ile309Asn) c.206+2064T>A c.957T>A (n.957T>A)
14	g.87945665T>A	CA390746189	GALC	c.1558A>T (p.Ile520Phe) c.1489A>T (p.Ile497Phe) c.1480A>T (p.Ile494Phe) c.1390A>T (p.Ile464Phe) c.925A>T (p.Ile309Phe) c.206+2063A>T c.956A>T (n.956A>T)
14	g.87945665T>C	CA390746190	GALC	c.1558A>G (p.Ile520Val) c.1489A>G (p.Ile497Val) c.1480A>G (p.Ile494Val) c.1390A>G (p.Ile464Val) c.925A>G (p.Ile309Val) c.206+2063A>G c.956A>G (n.956A>G)	gnomAD v4
14	g.87945665T>G	CA390746191	GALC	c.1558A>C (p.Ile520Leu) c.1489A>C (p.Ile497Leu) c.1480A>C (p.Ile494Leu) c.1390A>C (p.Ile464Leu) c.925A>C (p.Ile309Leu) c.206+2063A>C c.956A>C (n.956A>C)
14	g.87945666A>C	CA390746192	GALC	c.1557T>G (p.Asn519Lys) c.1488T>G (p.Asn496Lys) c.1479T>G (p.Asn493Lys) c.1389T>G (p.Asn463Lys) c.924T>G (p.Asn308Lys) c.206+2062T>G c.955T>G (n.955T>G)
14	g.87945666A>G	CA487355545	GALC	c.1557T>C (p.Asn519=) c.1488T>C (p.Asn496=) c.1479T>C (p.Asn493=) c.1389T>C (p.Asn463=) c.924T>C (p.Asn308=) c.206+2062T>C c.955T>C (n.955T>C)
14	g.87945666A>T	CA390746193	GALC	c.1557T>A (p.Asn519Lys) c.1488T>A (p.Asn496Lys) c.1479T>A (p.Asn493Lys) c.1389T>A (p.Asn463Lys) c.924T>A (p.Asn308Lys) c.206+2062T>A c.955T>A (n.955T>A)
14	g.87945667T>A	CA390746196	GALC	c.1556A>T (p.Asn519Ile) c.1487A>T (p.Asn496Ile) c.1478A>T (p.Asn493Ile) c.1388A>T (p.Asn463Ile) c.923A>T (p.Asn308Ile) c.206+2061A>T c.954A>T (n.954A>T)
14	g.87945667T>C	CA390746194	GALC	c.1556A>G (p.Asn519Ser) c.1487A>G (p.Asn496Ser) c.1478A>G (p.Asn493Ser) c.1388A>G (p.Asn463Ser) c.923A>G (p.Asn308Ser) c.206+2061A>G c.954A>G (n.954A>G)
14	g.87945667T>G	CA390746195	GALC	c.1556A>C (p.Asn519Thr) c.1487A>C (p.Asn496Thr) c.1478A>C (p.Asn493Thr) c.1388A>C (p.Asn463Thr) c.923A>C (p.Asn308Thr) c.206+2061A>C c.954A>C (n.954A>C)	gnomAD v4
14	g.87945669del	CA2625979034	GALC	c.1556del (p.Asn519IlefsTer?) c.1487del (p.Asn496IlefsTer?) c.1478del (p.Asn493IlefsTer?) c.1388del (p.Asn463IlefsTer?) c.923del (p.Asn308IlefsTer?) c.206+2061del c.954del (n.954del)	gnomAD v4
14	g.87945668T>A	CA390746197	GALC	c.1555A>T (p.Asn519Tyr) c.1486A>T (p.Asn496Tyr) c.1477A>T (p.Asn493Tyr) c.1387A>T (p.Asn463Tyr) c.922A>T (p.Asn308Tyr) c.206+2060A>T c.953A>T (n.953A>T)
14	g.87945668T>C	CA390746198	GALC	c.1555A>G (p.Asn519Asp) c.1486A>G (p.Asn496Asp) c.1477A>G (p.Asn493Asp) c.1387A>G (p.Asn463Asp) c.922A>G (p.Asn308Asp) c.206+2060A>G c.953A>G (n.953A>G)
14	g.87945668T>G	CA390746199	GALC	c.1555A>C (p.Asn519His) c.1486A>C (p.Asn496His) c.1477A>C (p.Asn493His) c.1387A>C (p.Asn463His) c.922A>C (p.Asn308His) c.206+2060A>C c.953A>C (n.953A>C)
14	g.87945669T>A	CA487355546	GALC	c.1554A>T (p.Thr518=) c.1485A>T (p.Thr495=) c.1476A>T (p.Thr492=) c.1386A>T (p.Thr462=) c.921A>T (p.Thr307=) c.206+2059A>T c.952A>T (n.952A>T)
14	g.87945669T>C	CA487355547	GALC	c.1554A>G (p.Thr518=) c.1485A>G (p.Thr495=) c.1476A>G (p.Thr492=) c.1386A>G (p.Thr462=) c.921A>G (p.Thr307=) c.206+2059A>G c.952A>G (n.952A>G)
14	g.87945669T>G	CA487355548	GALC	c.1554A>C (p.Thr518=) c.1485A>C (p.Thr495=) c.1476A>C (p.Thr492=) c.1386A>C (p.Thr462=) c.921A>C (p.Thr307=) c.206+2059A>C c.952A>C (n.952A>C)
14	g.87945670G>A	CA7296983	GALC	c.1553C>T (p.Thr518Ile) c.1484C>T (p.Thr495Ile) c.1475C>T (p.Thr492Ile) c.1385C>T (p.Thr462Ile) c.920C>T (p.Thr307Ile) c.206+2058C>T c.951C>T (n.951C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.87945670G>C	CA390746200	GALC	c.1553C>G (p.Thr518Arg) c.1484C>G (p.Thr495Arg) c.1475C>G (p.Thr492Arg) c.1385C>G (p.Thr462Arg) c.920C>G (p.Thr307Arg) c.206+2058C>G c.951C>G (n.951C>G)
14	g.87945670G=	CA2153356903	GALC	c.1553C= (p.Thr518=) c.1484C= (p.Thr495=) c.1475C= (p.Thr492=) c.1385C= (p.Thr462=) c.920C= (p.Thr307=) c.206+2058C= c.951C= (n.951C=)
14	g.87945670G>T	CA390746201	GALC	c.1553C>A (p.Thr518Lys) c.1484C>A (p.Thr495Lys) c.1475C>A (p.Thr492Lys) c.1385C>A (p.Thr462Lys) c.920C>A (p.Thr307Lys) c.206+2058C>A c.951C>A (n.951C>A)
14	g.87945671T>A	CA390746202	GALC	c.1552A>T (p.Thr518Ser) c.1483A>T (p.Thr495Ser) c.1474A>T (p.Thr492Ser) c.1384A>T (p.Thr462Ser) c.919A>T (p.Thr307Ser) c.206+2057A>T c.950A>T (n.950A>T)
14	g.87945671T>C	CA390746203	GALC	c.1552A>G (p.Thr518Ala) c.1483A>G (p.Thr495Ala) c.1474A>G (p.Thr492Ala) c.1384A>G (p.Thr462Ala) c.919A>G (p.Thr307Ala) c.206+2057A>G c.950A>G (n.950A>G)	dbSNP gnomAD v4
14	g.87945671T>G	CA390746204	GALC	c.1552A>C (p.Thr518Pro) c.1483A>C (p.Thr495Pro) c.1474A>C (p.Thr492Pro) c.1384A>C (p.Thr462Pro) c.919A>C (p.Thr307Pro) c.206+2057A>C c.950A>C (n.950A>C)
14	g.87945671T=	CA2153356908	GALC	c.1552A= (p.Thr518=) c.1483A= (p.Thr495=) c.1474A= (p.Thr492=) c.1384A= (p.Thr462=) c.919A= (p.Thr307=) c.206+2057A= c.950A= (n.950A=)
14	g.87945672A=	CA2153356912	GALC	c.1551T= (p.Phe517=) c.1482T= (p.Phe494=) c.1473T= (p.Phe491=) c.1383T= (p.Phe461=) c.918T= (p.Phe306=) c.206+2056T= c.949T= (n.949T=)
14	g.87945672A>C	CA390746205	GALC	c.1551T>G (p.Phe517Leu) c.1482T>G (p.Phe494Leu) c.1473T>G (p.Phe491Leu) c.1383T>G (p.Phe461Leu) c.918T>G (p.Phe306Leu) c.206+2056T>G c.949T>G (n.949T>G)
14	g.87945672A>G	CA487355549	GALC	c.1551T>C (p.Phe517=) c.1482T>C (p.Phe494=) c.1473T>C (p.Phe491=) c.1383T>C (p.Phe461=) c.918T>C (p.Phe306=) c.206+2056T>C c.949T>C (n.949T>C)	ClinVar dbSNP gnomAD v3 gnomAD v4
14	g.87945672A>T	CA390746206	GALC	c.1551T>A (p.Phe517Leu) c.1482T>A (p.Phe494Leu) c.1473T>A (p.Phe491Leu) c.1383T>A (p.Phe461Leu) c.918T>A (p.Phe306Leu) c.206+2056T>A c.949T>A (n.949T>A)
14	g.87945675dup	CA645581078	GALC	c.1551dup (p.Thr518TyrfsTer4) c.1482dup (p.Thr495TyrfsTer4) c.1473dup (p.Thr492TyrfsTer4) c.1383dup (p.Thr462TyrfsTer4) c.918dup (p.Thr307TyrfsTer4) c.206+2056dup c.949dup (n.949dup)	COSMIC COSMIC
14	g.87945672_87945673insT	CA487355550	GALC	c.1550_1551insA (p.Phe517LeufsTer5) c.1481_1482insA (p.Phe494LeufsTer5) c.1472_1473insA (p.Phe491LeufsTer5) c.1382_1383insA (p.Phe461LeufsTer5) c.917_918insA (p.Phe306LeufsTer5) c.206+2055_206+2056insA c.948_949insA (n.948_949insA)
14	g.87945673A>C	CA390746208	GALC	c.1550T>G (p.Phe517Cys) c.1481T>G (p.Phe494Cys) c.1472T>G (p.Phe491Cys) c.1382T>G (p.Phe461Cys) c.917T>G (p.Phe306Cys) c.206+2055T>G c.948T>G (n.948T>G)
14	g.87945673A>G	CA390746209	GALC	c.1550T>C (p.Phe517Ser) c.1481T>C (p.Phe494Ser) c.1472T>C (p.Phe491Ser) c.1382T>C (p.Phe461Ser) c.917T>C (p.Phe306Ser) c.206+2055T>C c.948T>C (n.948T>C)
14	g.87945673A>T	CA390746207	GALC	c.1550T>A (p.Phe517Tyr) c.1481T>A (p.Phe494Tyr) c.1472T>A (p.Phe491Tyr) c.1382T>A (p.Phe461Tyr) c.917T>A (p.Phe306Tyr) c.206+2055T>A c.948T>A (n.948T>A)
14	g.87945674A>C	CA390746212	GALC	c.1549T>G (p.Phe517Val) c.1480T>G (p.Phe494Val) c.1471T>G (p.Phe491Val) c.1381T>G (p.Phe461Val) c.916T>G (p.Phe306Val) c.206+2054T>G c.947T>G (n.947T>G)
14	g.87945674A>G	CA390746210	GALC	c.1549T>C (p.Phe517Leu) c.1480T>C (p.Phe494Leu) c.1471T>C (p.Phe491Leu) c.1381T>C (p.Phe461Leu) c.916T>C (p.Phe306Leu) c.206+2054T>C c.947T>C (n.947T>C)
14	g.87945674A>T	CA390746211	GALC	c.1549T>A (p.Phe517Ile) c.1480T>A (p.Phe494Ile) c.1471T>A (p.Phe491Ile) c.1381T>A (p.Phe461Ile) c.916T>A (p.Phe306Ile) c.206+2054T>A c.947T>A (n.947T>A)
14	g.87945675A>C	CA390746213	GALC	c.1548T>G (p.Tyr516Ter) c.1479T>G (p.Tyr493Ter) c.1470T>G (p.Tyr490Ter) c.1380T>G (p.Tyr460Ter) c.915T>G (p.Tyr305Ter) c.206+2053T>G c.946T>G (n.946T>G)
14	g.87945675A>G	CA487355552	GALC	c.1548T>C (p.Tyr516=) c.1479T>C (p.Tyr493=) c.1470T>C (p.Tyr490=) c.1380T>C (p.Tyr460=) c.915T>C (p.Tyr305=) c.206+2053T>C c.946T>C (n.946T>C)
14	g.87945675A>T	CA390746214	GALC	c.1548T>A (p.Tyr516Ter) c.1479T>A (p.Tyr493Ter) c.1470T>A (p.Tyr490Ter) c.1380T>A (p.Tyr460Ter) c.915T>A (p.Tyr305Ter) c.206+2053T>A c.946T>A (n.946T>A)
14	g.87945676T>A	CA390746215	GALC	c.1547A>T (p.Tyr516Phe) c.1478A>T (p.Tyr493Phe) c.1469A>T (p.Tyr490Phe) c.1379A>T (p.Tyr460Phe) c.914A>T (p.Tyr305Phe) c.206+2052A>T c.945A>T (n.945A>T)
14	g.87945676T>C	CA390746216	GALC	c.1547A>G (p.Tyr516Cys) c.1478A>G (p.Tyr493Cys) c.1469A>G (p.Tyr490Cys) c.1379A>G (p.Tyr460Cys) c.914A>G (p.Tyr305Cys) c.206+2052A>G c.945A>G (n.945A>G)	gnomAD v4
14	g.87945676T>G	CA390746217	GALC	c.1547A>C (p.Tyr516Ser) c.1478A>C (p.Tyr493Ser) c.1469A>C (p.Tyr490Ser) c.1379A>C (p.Tyr460Ser) c.914A>C (p.Tyr305Ser) c.206+2052A>C c.945A>C (n.945A>C)
14	g.87945677A>C	CA390746218	GALC	c.1546T>G (p.Tyr516Asp) c.1477T>G (p.Tyr493Asp) c.1468T>G (p.Tyr490Asp) c.1378T>G (p.Tyr460Asp) c.913T>G (p.Tyr305Asp) c.206+2051T>G c.944T>G (n.944T>G)
14	g.87945677A>G	CA390746219	GALC	c.1546T>C (p.Tyr516His) c.1477T>C (p.Tyr493His) c.1468T>C (p.Tyr490His) c.1378T>C (p.Tyr460His) c.913T>C (p.Tyr305His) c.206+2051T>C c.944T>C (n.944T>C)
14	g.87945677A>T	CA390746220	GALC	c.1546T>A (p.Tyr516Asn) c.1477T>A (p.Tyr493Asn) c.1468T>A (p.Tyr490Asn) c.1378T>A (p.Tyr460Asn) c.913T>A (p.Tyr305Asn) c.206+2051T>A c.944T>A (n.944T>A)
14	g.87945678T>A	CA390746221	GALC	c.1545A>T (p.Glu515Asp) c.1476A>T (p.Glu492Asp) c.1467A>T (p.Glu489Asp) c.1377A>T (p.Glu459Asp) c.912A>T (p.Glu304Asp) c.206+2050A>T c.943A>T (n.943A>T)
14	g.87945678T>C	CA7296984	GALC	c.1545A>G (p.Glu515=) c.1476A>G (p.Glu492=) c.1467A>G (p.Glu489=) c.1377A>G (p.Glu459=) c.912A>G (p.Glu304=) c.206+2050A>G c.943A>G (n.943A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.87945678T>G	CA390746222	GALC	c.1545A>C (p.Glu515Asp) c.1476A>C (p.Glu492Asp) c.1467A>C (p.Glu489Asp) c.1377A>C (p.Glu459Asp) c.912A>C (p.Glu304Asp) c.206+2050A>C c.943A>C (n.943A>C)
14	g.87945678T=	CA2153356917	GALC	c.1545A= (p.Glu515=) c.1476A= (p.Glu492=) c.1467A= (p.Glu489=) c.1377A= (p.Glu459=) c.912A= (p.Glu304=) c.206+2050A= c.943A= (n.943A=)
14	g.87945679T>A	CA390746225	GALC	c.1544A>T (p.Glu515Val) c.1475A>T (p.Glu492Val) c.1466A>T (p.Glu489Val) c.1376A>T (p.Glu459Val) c.911A>T (p.Glu304Val) c.206+2049A>T c.942A>T (n.942A>T)
14	g.87945679T>C	CA390746223	GALC	c.1544A>G (p.Glu515Gly) c.1475A>G (p.Glu492Gly) c.1466A>G (p.Glu489Gly) c.1376A>G (p.Glu459Gly) c.911A>G (p.Glu304Gly) c.206+2049A>G c.942A>G (n.942A>G)
14	g.87945679T>G	CA390746224	GALC	c.1544A>C (p.Glu515Ala) c.1475A>C (p.Glu492Ala) c.1466A>C (p.Glu489Ala) c.1376A>C (p.Glu459Ala) c.911A>C (p.Glu304Ala) c.206+2049A>C c.942A>C (n.942A>C)
14	g.87945680C>A	CA390746226	GALC	c.1543G>T (p.Glu515Ter) c.1474G>T (p.Glu492Ter) c.1465G>T (p.Glu489Ter) c.1375G>T (p.Glu459Ter) c.910G>T (p.Glu304Ter) c.206+2048G>T c.941G>T (n.941G>T)
14	g.87945680C=	CA2153356923	GALC	c.1543G= (p.Glu515=) c.1474G= (p.Glu492=) c.1465G= (p.Glu489=) c.1375G= (p.Glu459=) c.910G= (p.Glu304=) c.206+2048G= c.941G= (n.941G=)
14	g.87945680C>G	CA390746227	GALC	c.1543G>C (p.Glu515Gln) c.1474G>C (p.Glu492Gln) c.1465G>C (p.Glu489Gln) c.1375G>C (p.Glu459Gln) c.910G>C (p.Glu304Gln) c.206+2048G>C c.941G>C (n.941G>C)	gnomAD v4
14	g.87945680C>T	CA274999	GALC	c.1543G>A (p.Glu515Lys) c.1474G>A (p.Glu492Lys) c.1465G>A (p.Glu489Lys) c.1375G>A (p.Glu459Lys) c.910G>A (p.Glu304Lys) c.206+2048G>A c.941G>A (n.941G>A)	ClinVar dbSNP gnomAD v4
14	g.87945681A>C	CA390746228	GALC	c.1542T>G (p.Phe514Leu) c.1473T>G (p.Phe491Leu) c.1464T>G (p.Phe488Leu) c.1374T>G (p.Phe458Leu) c.909T>G (p.Phe303Leu) c.206+2047T>G c.940T>G (n.940T>G)
14	g.87945681A>G	CA487355555	GALC	c.1542T>C (p.Phe514=) c.1473T>C (p.Phe491=) c.1464T>C (p.Phe488=) c.1374T>C (p.Phe458=) c.909T>C (p.Phe303=) c.206+2047T>C c.940T>C (n.940T>C)
14	g.87945681A>T	CA390746229	GALC	c.1542T>A (p.Phe514Leu) c.1473T>A (p.Phe491Leu) c.1464T>A (p.Phe488Leu) c.1374T>A (p.Phe458Leu) c.909T>A (p.Phe303Leu) c.206+2047T>A c.940T>A (n.940T>A)
14	g.87945682A=	CA2153356929	GALC	c.1541T= (p.Phe514=) c.1472T= (p.Phe491=) c.1463T= (p.Phe488=) c.1373T= (p.Phe458=) c.908T= (p.Phe303=) c.206+2046T= c.939T= (n.939T=)
14	g.87945682A>C	CA390746230	GALC	c.1541T>G (p.Phe514Cys) c.1472T>G (p.Phe491Cys) c.1463T>G (p.Phe488Cys) c.1373T>G (p.Phe458Cys) c.908T>G (p.Phe303Cys) c.206+2046T>G c.939T>G (n.939T>G)	gnomAD v4
14	g.87945682A>G	CA10606606	GALC	c.1541T>C (p.Phe514Ser) c.1472T>C (p.Phe491Ser) c.1463T>C (p.Phe488Ser) c.1373T>C (p.Phe458Ser) c.908T>C (p.Phe303Ser) c.206+2046T>C c.939T>C (n.939T>C)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.87945682A>T	CA390746231	GALC	c.1541T>A (p.Phe514Tyr) c.1472T>A (p.Phe491Tyr) c.1463T>A (p.Phe488Tyr) c.1373T>A (p.Phe458Tyr) c.908T>A (p.Phe303Tyr) c.206+2046T>A c.939T>A (n.939T>A)
14	g.87945683A>C	CA390746232	GALC	c.1540T>G (p.Phe514Val) c.1471T>G (p.Phe491Val) c.1462T>G (p.Phe488Val) c.1372T>G (p.Phe458Val) c.907T>G (p.Phe303Val) c.206+2045T>G c.938T>G (n.938T>G)	gnomAD v4
14	g.87945683A>G	CA390746233	GALC	c.1540T>C (p.Phe514Leu) c.1471T>C (p.Phe491Leu) c.1462T>C (p.Phe488Leu) c.1372T>C (p.Phe458Leu) c.907T>C (p.Phe303Leu) c.206+2045T>C c.938T>C (n.938T>C)
14	g.87945683A>T	CA390746234	GALC	c.1540T>A (p.Phe514Ile) c.1471T>A (p.Phe491Ile) c.1462T>A (p.Phe488Ile) c.1372T>A (p.Phe458Ile) c.907T>A (p.Phe303Ile) c.206+2045T>A c.938T>A (n.938T>A)
14	g.87945684T>A	CA487355556	GALC	c.1539A>T (p.Val513=) c.1470A>T (p.Val490=) c.1461A>T (p.Val487=) c.1371A>T (p.Val457=) c.906A>T (p.Val302=) c.206+2044A>T c.937A>T (n.937A>T)
14	g.87945684T>C	CA487355557	GALC	c.1539A>G (p.Val513=) c.1470A>G (p.Val490=) c.1461A>G (p.Val487=) c.1371A>G (p.Val457=) c.906A>G (p.Val302=) c.206+2044A>G c.937A>G (n.937A>G)
14	g.87945684T>G	CA487355558	GALC	c.1539A>C (p.Val513=) c.1470A>C (p.Val490=) c.1461A>C (p.Val487=) c.1371A>C (p.Val457=) c.906A>C (p.Val302=) c.206+2044A>C c.937A>C (n.937A>C)
14	g.87945685A>C	CA390746237	GALC	c.1538T>G (p.Val513Gly) c.1469T>G (p.Val490Gly) c.1460T>G (p.Val487Gly) c.1370T>G (p.Val457Gly) c.905T>G (p.Val302Gly) c.206+2043T>G c.936T>G (n.936T>G)
14	g.87945685A>G	CA390746236	GALC	c.1538T>C (p.Val513Ala) c.1469T>C (p.Val490Ala) c.1460T>C (p.Val487Ala) c.1370T>C (p.Val457Ala) c.905T>C (p.Val302Ala) c.206+2043T>C c.936T>C (n.936T>C)
14	g.87945685A>T	CA390746235	GALC	c.1538T>A (p.Val513Glu) c.1469T>A (p.Val490Glu) c.1460T>A (p.Val487Glu) c.1370T>A (p.Val457Glu) c.905T>A (p.Val302Glu) c.206+2043T>A c.936T>A (n.936T>A)	gnomAD v4
14	g.87945686C>A	CA390746238	GALC	c.1537G>T (p.Val513Leu) c.1468G>T (p.Val490Leu) c.1459G>T (p.Val487Leu) c.1369G>T (p.Val457Leu) c.904G>T (p.Val302Leu) c.206+2042G>T c.935G>T (n.935G>T)
14	g.87945686C=	CA2153356933	GALC	c.1537G= (p.Val513=) c.1468G= (p.Val490=) c.1459G= (p.Val487=) c.1369G= (p.Val457=) c.904G= (p.Val302=) c.206+2042G= c.935G= (n.935G=)
14	g.87945686C>G	CA390746239	GALC	c.1537G>C (p.Val513Leu) c.1468G>C (p.Val490Leu) c.1459G>C (p.Val487Leu) c.1369G>C (p.Val457Leu) c.904G>C (p.Val302Leu) c.206+2042G>C c.935G>C (n.935G>C)
14	g.87945686C>T	CA264683758	GALC	c.1537G>A (p.Val513Ile) c.1468G>A (p.Val490Ile) c.1459G>A (p.Val487Ile) c.1369G>A (p.Val457Ile) c.904G>A (p.Val302Ile) c.206+2042G>A c.935G>A (n.935G>A)	ClinVar dbSNP gnomAD v3 gnomAD v4
14	g.87945687A>C	CA487355559	GALC	c.1536T>G (p.Gly512=) c.1467T>G (p.Gly489=) c.1458T>G (p.Gly486=) c.1368T>G (p.Gly456=) c.903T>G (p.Gly301=) c.206+2041T>G c.934T>G (n.934T>G)
14	g.87945687A>G	CA487355560	GALC	c.1536T>C (p.Gly512=) c.1467T>C (p.Gly489=) c.1458T>C (p.Gly486=) c.1368T>C (p.Gly456=) c.903T>C (p.Gly301=) c.206+2041T>C c.934T>C (n.934T>C)	ClinVar gnomAD v4
14	g.87945687A>T	CA487355561	GALC	c.1536T>A (p.Gly512=) c.1467T>A (p.Gly489=) c.1458T>A (p.Gly486=) c.1368T>A (p.Gly456=) c.903T>A (p.Gly301=) c.206+2041T>A c.934T>A (n.934T>A)
14	g.87945688C>A	CA390746240	GALC	c.1535G>T (p.Gly512Val) c.1466G>T (p.Gly489Val) c.1457G>T (p.Gly486Val) c.1367G>T (p.Gly456Val) c.902G>T (p.Gly301Val) c.206+2040G>T c.933G>T (n.933G>T)
14	g.87945688C=	CA2153356936	GALC	c.1535G= (p.Gly512=) c.1466G= (p.Gly489=) c.1457G= (p.Gly486=) c.1367G= (p.Gly456=) c.902G= (p.Gly301=) c.206+2040G= c.933G= (n.933G=)
14	g.87945688C>G	CA390746241	GALC	c.1535G>C (p.Gly512Ala) c.1466G>C (p.Gly489Ala) c.1457G>C (p.Gly486Ala) c.1367G>C (p.Gly456Ala) c.902G>C (p.Gly301Ala) c.206+2040G>C c.933G>C (n.933G>C)
14	g.87945688C>T	CA7296985	GALC	c.1535G>A (p.Gly512Asp) c.1466G>A (p.Gly489Asp) c.1457G>A (p.Gly486Asp) c.1367G>A (p.Gly456Asp) c.902G>A (p.Gly301Asp) c.206+2040G>A c.933G>A (n.933G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.87945689C>A	CA390746242	GALC	c.1534G>T (p.Gly512Cys) c.1465G>T (p.Gly489Cys) c.1456G>T (p.Gly486Cys) c.1366G>T (p.Gly456Cys) c.901G>T (p.Gly301Cys) c.206+2039G>T c.932G>T (n.932G>T)
14	g.87945689C>G	CA390746243	GALC	c.1534G>C (p.Gly512Arg) c.1465G>C (p.Gly489Arg) c.1456G>C (p.Gly486Arg) c.1366G>C (p.Gly456Arg) c.901G>C (p.Gly301Arg) c.206+2039G>C c.932G>C (n.932G>C)
14	g.87945689C>T	CA390746244	GALC	c.1534G>A (p.Gly512Ser) c.1465G>A (p.Gly489Ser) c.1456G>A (p.Gly486Ser) c.1366G>A (p.Gly456Ser) c.901G>A (p.Gly301Ser) c.206+2039G>A c.932G>A (n.932G>A)	gnomAD v4
14	g.87945690A=	CA2153356940	GALC	c.1533T= (p.Thr511=) c.1464T= (p.Thr488=) c.1455T= (p.Thr485=) c.1365T= (p.Thr455=) c.900T= (p.Thr300=) c.206+2038T= c.931T= (n.931T=)
14	g.87945690A>C	CA487355562	GALC	c.1533T>G (p.Thr511=) c.1464T>G (p.Thr488=) c.1455T>G (p.Thr485=) c.1365T>G (p.Thr455=) c.900T>G (p.Thr300=) c.206+2038T>G c.931T>G (n.931T>G)
14	g.87945690A>G	CA487355563	GALC	c.1533T>C (p.Thr511=) c.1464T>C (p.Thr488=) c.1455T>C (p.Thr485=) c.1365T>C (p.Thr455=) c.900T>C (p.Thr300=) c.206+2038T>C c.931T>C (n.931T>C)
14	g.87945690A>T	CA7296986	GALC	c.1533T>A (p.Thr511=) c.1464T>A (p.Thr488=) c.1455T>A (p.Thr485=) c.1365T>A (p.Thr455=) c.900T>A (p.Thr300=) c.206+2038T>A c.931T>A (n.931T>A)	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.87945691G>A	CA390746245	GALC	c.1532C>T (p.Thr511Ile) c.1463C>T (p.Thr488Ile) c.1454C>T (p.Thr485Ile) c.1364C>T (p.Thr455Ile) c.899C>T (p.Thr300Ile) c.206+2037C>T c.930C>T (n.930C>T)
14	g.87945691G>C	CA390746246	GALC	c.1532C>G (p.Thr511Ser) c.1463C>G (p.Thr488Ser) c.1454C>G (p.Thr485Ser) c.1364C>G (p.Thr455Ser) c.899C>G (p.Thr300Ser) c.206+2037C>G c.930C>G (n.930C>G)
14	g.87945691G>T	CA390746247	GALC	c.1532C>A (p.Thr511Asn) c.1463C>A (p.Thr488Asn) c.1454C>A (p.Thr485Asn) c.1364C>A (p.Thr455Asn) c.899C>A (p.Thr300Asn) c.206+2037C>A c.930C>A (n.930C>A)
14	g.87945692T>A	CA390746250	GALC	c.1531A>T (p.Thr511Ser) c.1462A>T (p.Thr488Ser) c.1453A>T (p.Thr485Ser) c.1363A>T (p.Thr455Ser) c.898A>T (p.Thr300Ser) c.206+2036A>T c.929A>T (n.929A>T)
14	g.87945692T>C	CA390746248	GALC	c.1531A>G (p.Thr511Ala) c.1462A>G (p.Thr488Ala) c.1453A>G (p.Thr485Ala) c.1363A>G (p.Thr455Ala) c.898A>G (p.Thr300Ala) c.206+2036A>G c.929A>G (n.929A>G)
14	g.87945692T>G	CA390746249	GALC	c.1531A>C (p.Thr511Pro) c.1462A>C (p.Thr488Pro) c.1453A>C (p.Thr485Pro) c.1363A>C (p.Thr455Pro) c.898A>C (p.Thr300Pro) c.206+2036A>C c.929A>C (n.929A>C)
14	g.87945694del	CA2573053947	GALC	c.1531del (p.Thr511LeufsTer?) c.1462del (p.Thr488LeufsTer?) c.1453del (p.Thr485LeufsTer?) c.1363del (p.Thr455LeufsTer?) c.898del (p.Thr300LeufsTer?) c.206+2036del c.929del (n.929del)	ClinVar dbSNP
14	g.87945693T>A	CA390746251	GALC	c.1530A>T (p.Gln510His) c.1461A>T (p.Gln487His) c.1452A>T (p.Gln484His) c.1362A>T (p.Gln454His) c.897A>T (p.Gln299His) c.206+2035A>T c.928A>T (n.928A>T)
14	g.87945693T>C	CA487355565	GALC	c.1530A>G (p.Gln510=) c.1461A>G (p.Gln487=) c.1452A>G (p.Gln484=) c.1362A>G (p.Gln454=) c.897A>G (p.Gln299=) c.206+2035A>G c.928A>G (n.928A>G)
14	g.87945693T>G	CA390746252	GALC	c.1530A>C (p.Gln510His) c.1461A>C (p.Gln487His) c.1452A>C (p.Gln484His) c.1362A>C (p.Gln454His) c.897A>C (p.Gln299His) c.206+2035A>C c.928A>C (n.928A>C)
14	g.87945694T>A	CA390746253	GALC	c.1529A>T (p.Gln510Leu) c.1460A>T (p.Gln487Leu) c.1451A>T (p.Gln484Leu) c.1361A>T (p.Gln454Leu) c.896A>T (p.Gln299Leu) c.206+2034A>T c.927A>T (n.927A>T)
14	g.87945694T>C	CA390746254	GALC	c.1529A>G (p.Gln510Arg) c.1460A>G (p.Gln487Arg) c.1451A>G (p.Gln484Arg) c.1361A>G (p.Gln454Arg) c.896A>G (p.Gln299Arg) c.206+2034A>G c.927A>G (n.927A>G)
14	g.87945694T>G	CA390746255	GALC	c.1529A>C (p.Gln510Pro) c.1460A>C (p.Gln487Pro) c.1451A>C (p.Gln484Pro) c.1361A>C (p.Gln454Pro) c.896A>C (p.Gln299Pro) c.206+2034A>C c.927A>C (n.927A>C)
14	g.87945695G>A	CA390746256	GALC	c.1528C>T (p.Gln510Ter) c.1459C>T (p.Gln487Ter) c.1450C>T (p.Gln484Ter) c.1360C>T (p.Gln454Ter) c.895C>T (p.Gln299Ter) c.206+2033C>T c.926C>T (n.926C>T)
14	g.87945695G>C	CA390746257	GALC	c.1528C>G (p.Gln510Glu) c.1459C>G (p.Gln487Glu) c.1450C>G (p.Gln484Glu) c.1360C>G (p.Gln454Glu) c.895C>G (p.Gln299Glu) c.206+2033C>G c.926C>G (n.926C>G)	dbSNP gnomAD v2
14	g.87945695G=	CA2153356944	GALC	c.1528C= (p.Gln510=) c.1459C= (p.Gln487=) c.1450C= (p.Gln484=) c.1360C= (p.Gln454=) c.895C= (p.Gln299=) c.206+2033C= c.926C= (n.926C=)
14	g.87945695G>T	CA390746258	GALC	c.1528C>A (p.Gln510Lys) c.1459C>A (p.Gln487Lys) c.1450C>A (p.Gln484Lys) c.1360C>A (p.Gln454Lys) c.895C>A (p.Gln299Lys) c.206+2033C>A c.926C>A (n.926C>A)	dbSNP gnomAD v4
14	g.87945696A>C	CA390746259	GALC	c.1527T>G (p.Asp509Glu) c.1458T>G (p.Asp486Glu) c.1449T>G (p.Asp483Glu) c.1359T>G (p.Asp453Glu) c.894T>G (p.Asp298Glu) c.206+2032T>G c.925T>G (n.925T>G)
14	g.87945696A>G	CA487355567	GALC	c.1527T>C (p.Asp509=) c.1458T>C (p.Asp486=) c.1449T>C (p.Asp483=) c.1359T>C (p.Asp453=) c.894T>C (p.Asp298=) c.206+2032T>C c.925T>C (n.925T>C)
14	g.87945696A>T	CA390746260	GALC	c.1527T>A (p.Asp509Glu) c.1458T>A (p.Asp486Glu) c.1449T>A (p.Asp483Glu) c.1359T>A (p.Asp453Glu) c.894T>A (p.Asp298Glu) c.206+2032T>A c.925T>A (n.925T>A)
14	g.87945697T>A	CA390746261	GALC	c.1526A>T (p.Asp509Val) c.1457A>T (p.Asp486Val) c.1448A>T (p.Asp483Val) c.1358A>T (p.Asp453Val) c.893A>T (p.Asp298Val) c.206+2031A>T c.924A>T (n.924A>T)
14	g.87945697T>C	CA390746262	GALC	c.1526A>G (p.Asp509Gly) c.1457A>G (p.Asp486Gly) c.1448A>G (p.Asp483Gly) c.1358A>G (p.Asp453Gly) c.893A>G (p.Asp298Gly) c.206+2031A>G c.924A>G (n.924A>G)	gnomAD v4
14	g.87945697T>G	CA390746263	GALC	c.1526A>C (p.Asp509Ala) c.1457A>C (p.Asp486Ala) c.1448A>C (p.Asp483Ala) c.1358A>C (p.Asp453Ala) c.893A>C (p.Asp298Ala) c.206+2031A>C c.924A>C (n.924A>C)
14	g.87945698C>A	CA390746265	GALC	c.1525G>T (p.Asp509Tyr) c.1456G>T (p.Asp486Tyr) c.1447G>T (p.Asp483Tyr) c.1357G>T (p.Asp453Tyr) c.892G>T (p.Asp298Tyr) c.206+2030G>T c.923G>T (n.923G>T)
14	g.87945698C>G	CA390746266	GALC	c.1525G>C (p.Asp509His) c.1456G>C (p.Asp486His) c.1447G>C (p.Asp483His) c.1357G>C (p.Asp453His) c.892G>C (p.Asp298His) c.206+2030G>C c.923G>C (n.923G>C)
14	g.87945698C>T	CA390746264	GALC	c.1525G>A (p.Asp509Asn) c.1456G>A (p.Asp486Asn) c.1447G>A (p.Asp483Asn) c.1357G>A (p.Asp453Asn) c.892G>A (p.Asp298Asn) c.206+2030G>A c.923G>A (n.923G>A)
14	g.87945699A>C	CA487355570	GALC	c.1524T>G (p.Ala508=) c.1455T>G (p.Ala485=) c.1446T>G (p.Ala482=) c.1356T>G (p.Ala452=) c.891T>G (p.Ala297=) c.206+2029T>G c.922T>G (n.922T>G)
14	g.87945699A>G	CA487355569	GALC	c.1524T>C (p.Ala508=) c.1455T>C (p.Ala485=) c.1446T>C (p.Ala482=) c.1356T>C (p.Ala452=) c.891T>C (p.Ala297=) c.206+2029T>C c.922T>C (n.922T>C)
14	g.87945699A>T	CA487355568	GALC	c.1524T>A (p.Ala508=) c.1455T>A (p.Ala485=) c.1446T>A (p.Ala482=) c.1356T>A (p.Ala452=) c.891T>A (p.Ala297=) c.206+2029T>A c.922T>A (n.922T>A)
14	g.87945700G>A	CA390746268	GALC	c.1523C>T (p.Ala508Val) c.1454C>T (p.Ala485Val) c.1445C>T (p.Ala482Val) c.1355C>T (p.Ala452Val) c.890C>T (p.Ala297Val) c.206+2028C>T c.921C>T (n.921C>T)	ClinVar dbSNP gnomAD v4
14	g.87945700G>C	CA390746267	GALC	c.1523C>G (p.Ala508Gly) c.1454C>G (p.Ala485Gly) c.1445C>G (p.Ala482Gly) c.1355C>G (p.Ala452Gly) c.890C>G (p.Ala297Gly) c.206+2028C>G c.921C>G (n.921C>G)
14	g.87945700G>T	CA390746269	GALC	c.1523C>A (p.Ala508Asp) c.1454C>A (p.Ala485Asp) c.1445C>A (p.Ala482Asp) c.1355C>A (p.Ala452Asp) c.890C>A (p.Ala297Asp) c.206+2028C>A c.921C>A (n.921C>A)
14	g.87945701C>A	CA390746270	GALC	c.1522G>T (p.Ala508Ser) c.1453G>T (p.Ala485Ser) c.1444G>T (p.Ala482Ser) c.1354G>T (p.Ala452Ser) c.889G>T (p.Ala297Ser) c.206+2027G>T c.920G>T (n.920G>T)	gnomAD v4
14	g.87945701C>G	CA390746271	GALC	c.1522G>C (p.Ala508Pro) c.1453G>C (p.Ala485Pro) c.1444G>C (p.Ala482Pro) c.1354G>C (p.Ala452Pro) c.889G>C (p.Ala297Pro) c.206+2027G>C c.920G>C (n.920G>C)
14	g.87945701C>T	CA390746272	GALC	c.1522G>A (p.Ala508Thr) c.1453G>A (p.Ala485Thr) c.1444G>A (p.Ala482Thr) c.1354G>A (p.Ala452Thr) c.889G>A (p.Ala297Thr) c.206+2027G>A c.920G>A (n.920G>A)
14	g.87945702A=	CA2153356949	GALC	c.1521T= (p.Phe507=) c.1452T= (p.Phe484=) c.1443T= (p.Phe481=) c.1353T= (p.Phe451=) c.888T= (p.Phe296=) c.206+2026T= c.919T= (n.919T=)
14	g.87945702A>C	CA390746273	GALC	c.1521T>G (p.Phe507Leu) c.1452T>G (p.Phe484Leu) c.1443T>G (p.Phe481Leu) c.1353T>G (p.Phe451Leu) c.888T>G (p.Phe296Leu) c.206+2026T>G c.919T>G (n.919T>G)
14	g.87945702A>G	CA7296987	GALC	c.1521T>C (p.Phe507=) c.1452T>C (p.Phe484=) c.1443T>C (p.Phe481=) c.1353T>C (p.Phe451=) c.888T>C (p.Phe296=) c.206+2026T>C c.919T>C (n.919T>C)	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.87945702A>T	CA390746274	GALC	c.1521T>A (p.Phe507Leu) c.1452T>A (p.Phe484Leu) c.1443T>A (p.Phe481Leu) c.1353T>A (p.Phe451Leu) c.888T>A (p.Phe296Leu) c.206+2026T>A c.919T>A (n.919T>A)
14	g.87945703A>C	CA390746275	GALC	c.1520T>G (p.Phe507Cys) c.1451T>G (p.Phe484Cys) c.1442T>G (p.Phe481Cys) c.1352T>G (p.Phe451Cys) c.887T>G (p.Phe296Cys) c.206+2025T>G c.918T>G (n.918T>G)
14	g.87945703A>G	CA390746276	GALC	c.1520T>C (p.Phe507Ser) c.1451T>C (p.Phe484Ser) c.1442T>C (p.Phe481Ser) c.1352T>C (p.Phe451Ser) c.887T>C (p.Phe296Ser) c.206+2025T>C c.918T>C (n.918T>C)
14	g.87945703A>T	CA390746277	GALC	c.1520T>A (p.Phe507Tyr) c.1451T>A (p.Phe484Tyr) c.1442T>A (p.Phe481Tyr) c.1352T>A (p.Phe451Tyr) c.887T>A (p.Phe296Tyr) c.206+2025T>A c.918T>A (n.918T>A)
14	g.87945704A=	CA2153356957	GALC	c.1519T= (p.Phe507=) c.1450T= (p.Phe484=) c.1441T= (p.Phe481=) c.1351T= (p.Phe451=) c.886T= (p.Phe296=) c.206+2024T= c.917T= (n.917T=)
14	g.87945704A>C	CA390746278	GALC	c.1519T>G (p.Phe507Val) c.1450T>G (p.Phe484Val) c.1441T>G (p.Phe481Val) c.1351T>G (p.Phe451Val) c.886T>G (p.Phe296Val) c.206+2024T>G c.917T>G (n.917T>G)
14	g.87945704A>G	CA390746279	GALC	c.1519T>C (p.Phe507Leu) c.1450T>C (p.Phe484Leu) c.1441T>C (p.Phe481Leu) c.1351T>C (p.Phe451Leu) c.886T>C (p.Phe296Leu) c.206+2024T>C c.917T>C (n.917T>C)	ClinVar dbSNP
14	g.87945704A>T	CA390746280	GALC	c.1519T>A (p.Phe507Ile) c.1450T>A (p.Phe484Ile) c.1441T>A (p.Phe481Ile) c.1351T>A (p.Phe451Ile) c.886T>A (p.Phe296Ile) c.206+2024T>A c.917T>A (n.917T>A)
14	g.87945705G>A	CA487355571	GALC	c.1518C>T (p.Asn506=) c.1449C>T (p.Asn483=) c.1440C>T (p.Asn480=) c.1350C>T (p.Asn450=) c.885C>T (p.Asn295=) c.206+2023C>T c.916C>T (n.916C>T)
14	g.87945705G>C	CA390746282	GALC	c.1518C>G (p.Asn506Lys) c.1449C>G (p.Asn483Lys) c.1440C>G (p.Asn480Lys) c.1350C>G (p.Asn450Lys) c.885C>G (p.Asn295Lys) c.206+2023C>G c.916C>G (n.916C>G)
14	g.87945705G>T	CA390746281	GALC	c.1518C>A (p.Asn506Lys) c.1449C>A (p.Asn483Lys) c.1440C>A (p.Asn480Lys) c.1350C>A (p.Asn450Lys) c.885C>A (p.Asn295Lys) c.206+2023C>A c.916C>A (n.916C>A)
14	g.87945706T>A	CA390746283	GALC	c.1517A>T (p.Asn506Ile) c.1448A>T (p.Asn483Ile) c.1439A>T (p.Asn480Ile) c.1349A>T (p.Asn450Ile) c.884A>T (p.Asn295Ile) c.206+2022A>T c.915A>T (n.915A>T)
14	g.87945706T>C	CA390746284	GALC	c.1517A>G (p.Asn506Ser) c.1448A>G (p.Asn483Ser) c.1439A>G (p.Asn480Ser) c.1349A>G (p.Asn450Ser) c.884A>G (p.Asn295Ser) c.206+2022A>G c.915A>G (n.915A>G)
14	g.87945706T>G	CA390746285	GALC	c.1517A>C (p.Asn506Thr) c.1448A>C (p.Asn483Thr) c.1439A>C (p.Asn480Thr) c.1349A>C (p.Asn450Thr) c.884A>C (p.Asn295Thr) c.206+2022A>C c.915A>C (n.915A>C)
14	g.87945707T>A	CA390746286	GALC	c.1516A>T (p.Asn506Tyr) c.1447A>T (p.Asn483Tyr) c.1438A>T (p.Asn480Tyr) c.1348A>T (p.Asn450Tyr) c.883A>T (p.Asn295Tyr) c.206+2021A>T c.914A>T (n.914A>T)
14	g.87945707T>C	CA390746287	GALC	c.1516A>G (p.Asn506Asp) c.1447A>G (p.Asn483Asp) c.1438A>G (p.Asn480Asp) c.1348A>G (p.Asn450Asp) c.883A>G (p.Asn295Asp) c.206+2021A>G c.914A>G (n.914A>G)
14	g.87945707T>G	CA390746288	GALC	c.1516A>C (p.Asn506His) c.1447A>C (p.Asn483His) c.1438A>C (p.Asn480His) c.1348A>C (p.Asn450His) c.883A>C (p.Asn295His) c.206+2021A>C c.914A>C (n.914A>C)
14	g.87945708T>A	CA487355572	GALC	c.1515A>T (p.Pro505=) c.1446A>T (p.Pro482=) c.1437A>T (p.Pro479=) c.1347A>T (p.Pro449=) c.882A>T (p.Pro294=) c.206+2020A>T c.913A>T (n.913A>T)
14	g.87945708T>C	CA487355573	GALC	c.1515A>G (p.Pro505=) c.1446A>G (p.Pro482=) c.1437A>G (p.Pro479=) c.1347A>G (p.Pro449=) c.882A>G (p.Pro294=) c.206+2020A>G c.913A>G (n.913A>G)	dbSNP gnomAD v3 gnomAD v4
14	g.87945708T>G	CA487355574	GALC	c.1515A>C (p.Pro505=) c.1446A>C (p.Pro482=) c.1437A>C (p.Pro479=) c.1347A>C (p.Pro449=) c.882A>C (p.Pro294=) c.206+2020A>C c.913A>C (n.913A>C)
14	g.87945708T=	CA2153356960	GALC	c.1515A= (p.Pro505=) c.1446A= (p.Pro482=) c.1437A= (p.Pro479=) c.1347A= (p.Pro449=) c.882A= (p.Pro294=) c.206+2020A= c.913A= (n.913A=)
14	g.87945709G>A	CA390746289	GALC	c.1514C>T (p.Pro505Leu) c.1445C>T (p.Pro482Leu) c.1436C>T (p.Pro479Leu) c.1346C>T (p.Pro449Leu) c.881C>T (p.Pro294Leu) c.206+2019C>T c.912C>T (n.912C>T)
14	g.87945709G>C	CA390746290	GALC	c.1514C>G (p.Pro505Arg) c.1445C>G (p.Pro482Arg) c.1436C>G (p.Pro479Arg) c.1346C>G (p.Pro449Arg) c.881C>G (p.Pro294Arg) c.206+2019C>G c.912C>G (n.912C>G)
14	g.87945709G>T	CA390746291	GALC	c.1514C>A (p.Pro505Gln) c.1445C>A (p.Pro482Gln) c.1436C>A (p.Pro479Gln) c.1346C>A (p.Pro449Gln) c.881C>A (p.Pro294Gln) c.206+2019C>A c.912C>A (n.912C>A)
14	g.87945710G>A	CA390746292	GALC	c.1513C>T (p.Pro505Ser) c.1444C>T (p.Pro482Ser) c.1435C>T (p.Pro479Ser) c.1345C>T (p.Pro449Ser) c.880C>T (p.Pro294Ser) c.206+2018C>T c.911C>T (n.911C>T)	gnomAD v4
14	g.87945710G>C	CA390746293	GALC	c.1513C>G (p.Pro505Ala) c.1444C>G (p.Pro482Ala) c.1435C>G (p.Pro479Ala) c.1345C>G (p.Pro449Ala) c.880C>G (p.Pro294Ala) c.206+2018C>G c.911C>G (n.911C>G)	dbSNP
14	g.87945710G=	CA2153356964	GALC	c.1513C= (p.Pro505=) c.1444C= (p.Pro482=) c.1435C= (p.Pro479=) c.1345C= (p.Pro449=) c.880C= (p.Pro294=) c.206+2018C= c.911C= (n.911C=)
14	g.87945710G>T	CA390746294	GALC	c.1513C>A (p.Pro505Thr) c.1444C>A (p.Pro482Thr) c.1435C>A (p.Pro479Thr) c.1345C>A (p.Pro449Thr) c.880C>A (p.Pro294Thr) c.206+2018C>A c.911C>A (n.911C>A)	gnomAD v4
14	g.87945711A>C	CA487355575	GALC	c.1512T>G (p.Ala504=) c.1443T>G (p.Ala481=) c.1434T>G (p.Ala478=) c.1344T>G (p.Ala448=) c.879T>G (p.Ala293=) c.206+2017T>G c.910T>G (n.910T>G)
14	g.87945711A>G	CA487355576	GALC	c.1512T>C (p.Ala504=) c.1443T>C (p.Ala481=) c.1434T>C (p.Ala478=) c.1344T>C (p.Ala448=) c.879T>C (p.Ala293=) c.206+2017T>C c.910T>C (n.910T>C)
14	g.87945711A>T	CA487355577	GALC	c.1512T>A (p.Ala504=) c.1443T>A (p.Ala481=) c.1434T>A (p.Ala478=) c.1344T>A (p.Ala448=) c.879T>A (p.Ala293=) c.206+2017T>A c.910T>A (n.910T>A)
14	g.87945712G>A	CA390746296	GALC	c.1511C>T (p.Ala504Val) c.1442C>T (p.Ala481Val) c.1433C>T (p.Ala478Val) c.1343C>T (p.Ala448Val) c.878C>T (p.Ala293Val) c.206+2016C>T c.909C>T (n.909C>T)
14	g.87945712G>C	CA390746297	GALC	c.1511C>G (p.Ala504Gly) c.1442C>G (p.Ala481Gly) c.1433C>G (p.Ala478Gly) c.1343C>G (p.Ala448Gly) c.878C>G (p.Ala293Gly) c.206+2016C>G c.909C>G (n.909C>G)
14	g.87945712G>T	CA390746295	GALC	c.1511C>A (p.Ala504Asp) c.1442C>A (p.Ala481Asp) c.1433C>A (p.Ala478Asp) c.1343C>A (p.Ala448Asp) c.878C>A (p.Ala293Asp) c.206+2016C>A c.909C>A (n.909C>A)
14	g.87945713C>A	CA7296988	GALC	c.1510G>T (p.Ala504Ser) c.1441G>T (p.Ala481Ser) c.1432G>T (p.Ala478Ser) c.1342G>T (p.Ala448Ser) c.877G>T (p.Ala293Ser) c.206+2015G>T c.908G>T (n.908G>T)	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.87945713C=	CA2153356967	GALC	c.1510G= (p.Ala504=) c.1441G= (p.Ala481=) c.1432G= (p.Ala478=) c.1342G= (p.Ala448=) c.877G= (p.Ala293=) c.206+2015G= c.908G= (n.908G=)
14	g.87945713C>G	CA390746298	GALC	c.1510G>C (p.Ala504Pro) c.1441G>C (p.Ala481Pro) c.1432G>C (p.Ala478Pro) c.1342G>C (p.Ala448Pro) c.877G>C (p.Ala293Pro) c.206+2015G>C c.908G>C (n.908G>C)
14	g.87945713C>T	CA390746299	GALC	c.1510G>A (p.Ala504Thr) c.1441G>A (p.Ala481Thr) c.1432G>A (p.Ala478Thr) c.1342G>A (p.Ala448Thr) c.877G>A (p.Ala293Thr) c.206+2015G>A c.908G>A (n.908G>A)
14	g.87945714T>A	CA390746300	GALC	c.1509A>T (p.Glu503Asp) c.1440A>T (p.Glu480Asp) c.1431A>T (p.Glu477Asp) c.1341A>T (p.Glu447Asp) c.876A>T (p.Glu292Asp) c.206+2014A>T c.907A>T (n.907A>T)
14	g.87945714T>C	CA487355578	GALC	c.1509A>G (p.Glu503=) c.1440A>G (p.Glu480=) c.1431A>G (p.Glu477=) c.1341A>G (p.Glu447=) c.876A>G (p.Glu292=) c.206+2014A>G c.907A>G (n.907A>G)	ClinVar dbSNP gnomAD v4
14	g.87945714T>G	CA390746301	GALC	c.1509A>C (p.Glu503Asp) c.1440A>C (p.Glu480Asp) c.1431A>C (p.Glu477Asp) c.1341A>C (p.Glu447Asp) c.876A>C (p.Glu292Asp) c.206+2014A>C c.907A>C (n.907A>C)
14	g.87945715T>A	CA390746302	GALC	c.1508A>T (p.Glu503Val) c.1439A>T (p.Glu480Val) c.1430A>T (p.Glu477Val) c.1340A>T (p.Glu447Val) c.875A>T (p.Glu292Val) c.206+2013A>T c.906A>T (n.906A>T)
14	g.87945715T>C	CA390746303	GALC	c.1508A>G (p.Glu503Gly) c.1439A>G (p.Glu480Gly) c.1430A>G (p.Glu477Gly) c.1340A>G (p.Glu447Gly) c.875A>G (p.Glu292Gly) c.206+2013A>G c.906A>G (n.906A>G)
14	g.87945715T>G	CA390746304	GALC	c.1508A>C (p.Glu503Ala) c.1439A>C (p.Glu480Ala) c.1430A>C (p.Glu477Ala) c.1340A>C (p.Glu447Ala) c.875A>C (p.Glu292Ala) c.206+2013A>C c.906A>C (n.906A>C)
14	g.87945716C>A	CA390746305	GALC	c.1507G>T (p.Glu503Ter) c.1438G>T (p.Glu480Ter) c.1429G>T (p.Glu477Ter) c.1339G>T (p.Glu447Ter) c.874G>T (p.Glu292Ter) c.206+2012G>T c.905G>T (n.905G>T)	ClinVar dbSNP gnomAD v2
14	g.87945716C=	CA2153356971	GALC	c.1507G= (p.Glu503=) c.1438G= (p.Glu480=) c.1429G= (p.Glu477=) c.1339G= (p.Glu447=) c.874G= (p.Glu292=) c.206+2012G= c.905G= (n.905G=)
14	g.87945716C>G	CA390746306	GALC	c.1507G>C (p.Glu503Gln) c.1438G>C (p.Glu480Gln) c.1429G>C (p.Glu477Gln) c.1339G>C (p.Glu447Gln) c.874G>C (p.Glu292Gln) c.206+2012G>C c.905G>C (n.905G>C)
14	g.87945716C>T	CA390746307	GALC	c.1507G>A (p.Glu503Lys) c.1438G>A (p.Glu480Lys) c.1429G>A (p.Glu477Lys) c.1339G>A (p.Glu447Lys) c.874G>A (p.Glu292Lys) c.206+2012G>A c.905G>A (n.905G>A)
14	g.87945717A>C	CA390746308	GALC	c.1506T>G (p.Ser502Arg) c.1437T>G (p.Ser479Arg) c.1428T>G (p.Ser476Arg) c.1338T>G (p.Ser446Arg) c.873T>G (p.Ser291Arg) c.206+2011T>G c.904T>G (n.904T>G)
14	g.87945717A>G	CA487355579	GALC	c.1506T>C (p.Ser502=) c.1437T>C (p.Ser479=) c.1428T>C (p.Ser476=) c.1338T>C (p.Ser446=) c.873T>C (p.Ser291=) c.206+2011T>C c.904T>C (n.904T>C)	ClinVar dbSNP
14	g.87945717A>T	CA390746309	GALC	c.1506T>A (p.Ser502Arg) c.1437T>A (p.Ser479Arg) c.1428T>A (p.Ser476Arg) c.1338T>A (p.Ser446Arg) c.873T>A (p.Ser291Arg) c.206+2011T>A c.904T>A (n.904T>A)
14	g.87945718C>A	CA390746311	GALC	c.1505G>T (p.Ser502Ile) c.1436G>T (p.Ser479Ile) c.1427G>T (p.Ser476Ile) c.1337G>T (p.Ser446Ile) c.872G>T (p.Ser291Ile) c.206+2010G>T c.903G>T (n.903G>T)
14	g.87945718C=	CA2153356973	GALC	c.1505G= (p.Ser502=) c.1436G= (p.Ser479=) c.1427G= (p.Ser476=) c.1337G= (p.Ser446=) c.872G= (p.Ser291=) c.206+2010G= c.903G= (n.903G=)
14	g.87945718C>G	CA7296989	GALC	c.1505G>C (p.Ser502Thr) c.1436G>C (p.Ser479Thr) c.1427G>C (p.Ser476Thr) c.1337G>C (p.Ser446Thr) c.872G>C (p.Ser291Thr) c.206+2010G>C c.903G>C (n.903G>C)	dbSNP ExAC gnomAD v3 gnomAD v4
14	g.87945718C>T	CA390746310	GALC	c.1505G>A (p.Ser502Asn) c.1436G>A (p.Ser479Asn) c.1427G>A (p.Ser476Asn) c.1337G>A (p.Ser446Asn) c.872G>A (p.Ser291Asn) c.206+2010G>A c.903G>A (n.903G>A)	gnomAD v4
14	g.87945719T>A	CA390746312	GALC	c.1504A>T (p.Ser502Cys) c.1435A>T (p.Ser479Cys) c.1426A>T (p.Ser476Cys) c.1336A>T (p.Ser446Cys) c.871A>T (p.Ser291Cys) c.206+2009A>T c.902A>T (n.902A>T)
14	g.87945719T>C	CA390746313	GALC	c.1504A>G (p.Ser502Gly) c.1435A>G (p.Ser479Gly) c.1426A>G (p.Ser476Gly) c.1336A>G (p.Ser446Gly) c.871A>G (p.Ser291Gly) c.206+2009A>G c.902A>G (n.902A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.87945719T>G	CA390746314	GALC	c.1504A>C (p.Ser502Arg) c.1435A>C (p.Ser479Arg) c.1426A>C (p.Ser476Arg) c.1336A>C (p.Ser446Arg) c.871A>C (p.Ser291Arg) c.206+2009A>C c.902A>C (n.902A>C)
14	g.87945719T=	CA2153356978	GALC	c.1504A= (p.Ser502=) c.1435A= (p.Ser479=) c.1426A= (p.Ser476=) c.1336A= (p.Ser446=) c.871A= (p.Ser291=) c.206+2009A= c.902A= (n.902A=)
14	g.87945720A>C	CA390746315	GALC	c.1503T>G (p.Phe501Leu) c.1434T>G (p.Phe478Leu) c.1425T>G (p.Phe475Leu) c.1335T>G (p.Phe445Leu) c.870T>G (p.Phe290Leu) c.206+2008T>G c.901T>G (n.901T>G)
14	g.87945720A>G	CA487355580	GALC	c.1503T>C (p.Phe501=) c.1434T>C (p.Phe478=) c.1425T>C (p.Phe475=) c.1335T>C (p.Phe445=) c.870T>C (p.Phe290=) c.206+2008T>C c.901T>C (n.901T>C)
14	g.87945720A>T	CA390746316	GALC	c.1503T>A (p.Phe501Leu) c.1434T>A (p.Phe478Leu) c.1425T>A (p.Phe475Leu) c.1335T>A (p.Phe445Leu) c.870T>A (p.Phe290Leu) c.206+2008T>A c.901T>A (n.901T>A)
14	g.87945725del	CA645581079	GALC	c.1503del (p.Phe501LeufsTer?) c.1434del (p.Phe478LeufsTer?) c.1425del (p.Phe475LeufsTer?) c.1335del (p.Phe445LeufsTer?) c.870del (p.Phe290LeufsTer?) c.206+2008del c.901del (n.901del)	gnomAD v4 COSMIC COSMIC
14	g.87945721A>C	CA390746317	GALC	c.1502T>G (p.Phe501Cys) c.1433T>G (p.Phe478Cys) c.1424T>G (p.Phe475Cys) c.1334T>G (p.Phe445Cys) c.869T>G (p.Phe290Cys) c.206+2007T>G c.900T>G (n.900T>G)
14	g.87945721A>G	CA390746318	GALC	c.1502T>C (p.Phe501Ser) c.1433T>C (p.Phe478Ser) c.1424T>C (p.Phe475Ser) c.1334T>C (p.Phe445Ser) c.869T>C (p.Phe290Ser) c.206+2007T>C c.900T>C (n.900T>C)
14	g.87945721A>T	CA390746319	GALC	c.1502T>A (p.Phe501Tyr) c.1433T>A (p.Phe478Tyr) c.1424T>A (p.Phe475Tyr) c.1334T>A (p.Phe445Tyr) c.869T>A (p.Phe290Tyr) c.206+2007T>A c.900T>A (n.900T>A)
14	g.87945722A>C	CA390746320	GALC	c.1501T>G (p.Phe501Val) c.1432T>G (p.Phe478Val) c.1423T>G (p.Phe475Val) c.1333T>G (p.Phe445Val) c.868T>G (p.Phe290Val) c.206+2006T>G c.899T>G (n.899T>G)
14	g.87945722A>G	CA390746321	GALC	c.1501T>C (p.Phe501Leu) c.1432T>C (p.Phe478Leu) c.1423T>C (p.Phe475Leu) c.1333T>C (p.Phe445Leu) c.868T>C (p.Phe290Leu) c.206+2006T>C c.899T>C (n.899T>C)
14	g.87945722A>T	CA390746322	GALC	c.1501T>A (p.Phe501Ile) c.1432T>A (p.Phe478Ile) c.1423T>A (p.Phe475Ile) c.1333T>A (p.Phe445Ile) c.868T>A (p.Phe290Ile) c.206+2006T>A c.899T>A (n.899T>A)
14	g.87945723A=	CA2153356983	GALC	c.1500T= (p.Phe500=) c.1431T= (p.Phe477=) c.1422T= (p.Phe474=) c.1332T= (p.Phe444=) c.867T= (p.Phe289=) c.206+2005T= c.898T= (n.898T=)
14	g.87945723A>C	CA390746323	GALC	c.1500T>G (p.Phe500Leu) c.1431T>G (p.Phe477Leu) c.1422T>G (p.Phe474Leu) c.1332T>G (p.Phe444Leu) c.867T>G (p.Phe289Leu) c.206+2005T>G c.898T>G (n.898T>G)	dbSNP gnomAD v4
14	g.87945723A>G	CA487355582	GALC	c.1500T>C (p.Phe500=) c.1431T>C (p.Phe477=) c.1422T>C (p.Phe474=) c.1332T>C (p.Phe444=) c.867T>C (p.Phe289=) c.206+2005T>C c.898T>C (n.898T>C)
14	g.87945723A>T	CA390746324	GALC	c.1500T>A (p.Phe500Leu) c.1431T>A (p.Phe477Leu) c.1422T>A (p.Phe474Leu) c.1332T>A (p.Phe444Leu) c.867T>A (p.Phe289Leu) c.206+2005T>A c.898T>A (n.898T>A)
14	g.87945724A>C	CA390746327	GALC	c.1499T>G (p.Phe500Cys) c.1430T>G (p.Phe477Cys) c.1421T>G (p.Phe474Cys) c.1331T>G (p.Phe444Cys) c.866T>G (p.Phe289Cys) c.206+2004T>G c.897T>G (n.897T>G)
14	g.87945724A>G	CA390746326	GALC	c.1499T>C (p.Phe500Ser) c.1430T>C (p.Phe477Ser) c.1421T>C (p.Phe474Ser) c.1331T>C (p.Phe444Ser) c.866T>C (p.Phe289Ser) c.206+2004T>C c.897T>C (n.897T>C)
14	g.87945724A>T	CA390746325	GALC	c.1499T>A (p.Phe500Tyr) c.1430T>A (p.Phe477Tyr) c.1421T>A (p.Phe474Tyr) c.1331T>A (p.Phe444Tyr) c.866T>A (p.Phe289Tyr) c.206+2004T>A c.897T>A (n.897T>A)

Number of alleles fetched