| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 14 | g.87945725A>C | CA390746328 | GALC | c.1498T>G (p.Phe500Val) c.1429T>G (p.Phe477Val) c.1420T>G (p.Phe474Val) c.1330T>G (p.Phe444Val) c.865T>G (p.Phe289Val) c.206+2003T>G c.*896T>G (n.*896T>G) | |
| 14 | g.87945725A>G | CA390746329 | GALC | c.1498T>C (p.Phe500Leu) c.1429T>C (p.Phe477Leu) c.1420T>C (p.Phe474Leu) c.1330T>C (p.Phe444Leu) c.865T>C (p.Phe289Leu) c.206+2003T>C c.*896T>C (n.*896T>C) | |
| 14 | g.87945725A>T | CA390746330 | GALC | c.1498T>A (p.Phe500Ile) c.1429T>A (p.Phe477Ile) c.1420T>A (p.Phe474Ile) c.1330T>A (p.Phe444Ile) c.865T>A (p.Phe289Ile) c.206+2003T>A c.*896T>A (n.*896T>A) | gnomAD v4 |
| 14 | g.87945726T>A | CA487355583 | GALC | c.1497A>T (p.Pro499=) c.1428A>T (p.Pro476=) c.1419A>T (p.Pro473=) c.1329A>T (p.Pro443=) c.864A>T (p.Pro288=) c.206+2002A>T c.*895A>T (n.*895A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87945726T>C | CA487355584 | GALC | c.1497A>G (p.Pro499=) c.1428A>G (p.Pro476=) c.1419A>G (p.Pro473=) c.1329A>G (p.Pro443=) c.864A>G (p.Pro288=) c.206+2002A>G c.*895A>G (n.*895A>G) | |
| 14 | g.87945726T>G | CA487355585 | GALC | c.1497A>C (p.Pro499=) c.1428A>C (p.Pro476=) c.1419A>C (p.Pro473=) c.1329A>C (p.Pro443=) c.864A>C (p.Pro288=) c.206+2002A>C c.*895A>C (n.*895A>C) | |
| 14 | g.87945726T= | CA2153356987 | GALC | c.1497A= (p.Pro499=) c.1428A= (p.Pro476=) c.1419A= (p.Pro473=) c.1329A= (p.Pro443=) c.864A= (p.Pro288=) c.206+2002A= c.*895A= (n.*895A=) | |
| 14 | g.87945727G>A | CA390746331 | GALC | c.1496C>T (p.Pro499Leu) c.1427C>T (p.Pro476Leu) c.1418C>T (p.Pro473Leu) c.1328C>T (p.Pro443Leu) c.863C>T (p.Pro288Leu) c.206+2001C>T c.*894C>T (n.*894C>T) | ClinVar dbSNP |
| 14 | g.87945727G>C | CA390746332 | GALC | c.1496C>G (p.Pro499Arg) c.1427C>G (p.Pro476Arg) c.1418C>G (p.Pro473Arg) c.1328C>G (p.Pro443Arg) c.863C>G (p.Pro288Arg) c.206+2001C>G c.*894C>G (n.*894C>G) | |
| 14 | g.87945727G>T | CA390746333 | GALC | c.1496C>A (p.Pro499Gln) c.1427C>A (p.Pro476Gln) c.1418C>A (p.Pro473Gln) c.1328C>A (p.Pro443Gln) c.863C>A (p.Pro288Gln) c.206+2001C>A c.*894C>A (n.*894C>A) | |
| 14 | g.87945728G>A | CA390746336 | GALC | c.1495C>T (p.Pro499Ser) c.1426C>T (p.Pro476Ser) c.1417C>T (p.Pro473Ser) c.1327C>T (p.Pro443Ser) c.862C>T (p.Pro288Ser) c.206+2000C>T c.*893C>T (n.*893C>T) | |
| 14 | g.87945728G>C | CA390746334 | GALC | c.1495C>G (p.Pro499Ala) c.1426C>G (p.Pro476Ala) c.1417C>G (p.Pro473Ala) c.1327C>G (p.Pro443Ala) c.862C>G (p.Pro288Ala) c.206+2000C>G c.*893C>G (n.*893C>G) | |
| 14 | g.87945728G>T | CA390746335 | GALC | c.1495C>A (p.Pro499Thr) c.1426C>A (p.Pro476Thr) c.1417C>A (p.Pro473Thr) c.1327C>A (p.Pro443Thr) c.862C>A (p.Pro288Thr) c.206+2000C>A c.*893C>A (n.*893C>A) | gnomAD v4 |
| 14 | g.87945728_87945763delinsGGTAATCTGTTCAGAATGTAAGAAATTCTCTGTTTA | CA2153356990 | GALC | c.1490-30_1495delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC c.1421-30_1426delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC c.1412-30_1417delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC c.1322-30_1327delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC c.857-30_862delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC c.206+1965_206+2000delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC c.*888-30_*893delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC | |
| 14 | g.87945729G>A | CA487355586 | GALC | c.1494C>T (p.Tyr498=) c.1425C>T (p.Tyr475=) c.1416C>T (p.Tyr472=) c.1326C>T (p.Tyr442=) c.861C>T (p.Tyr287=) c.206+1999C>T c.*892C>T (n.*892C>T) | gnomAD v4 |
| 14 | g.87945729G>C | CA390746337 | GALC | c.1494C>G (p.Tyr498Ter) c.1425C>G (p.Tyr475Ter) c.1416C>G (p.Tyr472Ter) c.1326C>G (p.Tyr442Ter) c.861C>G (p.Tyr287Ter) c.206+1999C>G c.*892C>G (n.*892C>G) | |
| 14 | g.87945729G>T | CA390746338 | GALC | c.1494C>A (p.Tyr498Ter) c.1425C>A (p.Tyr475Ter) c.1416C>A (p.Tyr472Ter) c.1326C>A (p.Tyr442Ter) c.861C>A (p.Tyr287Ter) c.206+1999C>A c.*892C>A (n.*892C>A) | |
| 14 | g.87945732_87945766del | CA615670056 | GALC | c.1490-30_1494del c.1421-30_1425del c.1412-30_1416del c.1322-30_1326del c.857-30_861del c.206+1965_206+1999del c.*888-30_*892del | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87945730T>A | CA390746339 | GALC | c.1493A>T (p.Tyr498Phe) c.1424A>T (p.Tyr475Phe) c.1415A>T (p.Tyr472Phe) c.1325A>T (p.Tyr442Phe) c.860A>T (p.Tyr287Phe) c.206+1998A>T c.*891A>T (n.*891A>T) | |
| 14 | g.87945730T>C | CA390746340 | GALC | c.1493A>G (p.Tyr498Cys) c.1424A>G (p.Tyr475Cys) c.1415A>G (p.Tyr472Cys) c.1325A>G (p.Tyr442Cys) c.860A>G (p.Tyr287Cys) c.206+1998A>G c.*891A>G (n.*891A>G) | |
| 14 | g.87945730T>G | CA390746341 | GALC | c.1493A>C (p.Tyr498Ser) c.1424A>C (p.Tyr475Ser) c.1415A>C (p.Tyr472Ser) c.1325A>C (p.Tyr442Ser) c.860A>C (p.Tyr287Ser) c.206+1998A>C c.*891A>C (n.*891A>C) | |
| 14 | g.87945731A= | CA2153356995 | GALC | c.1492T= (p.Tyr498=) c.1423T= (p.Tyr475=) c.1414T= (p.Tyr472=) c.1324T= (p.Tyr442=) c.859T= (p.Tyr287=) c.206+1997T= c.*890T= (n.*890T=) | |
| 14 | g.87945731A>C | CA390746344 | GALC | c.1492T>G (p.Tyr498Asp) c.1423T>G (p.Tyr475Asp) c.1414T>G (p.Tyr472Asp) c.1324T>G (p.Tyr442Asp) c.859T>G (p.Tyr287Asp) c.206+1997T>G c.*890T>G (n.*890T>G) | |
| 14 | g.87945731A>G | CA390746342 | GALC | c.1492T>C (p.Tyr498His) c.1423T>C (p.Tyr475His) c.1414T>C (p.Tyr472His) c.1324T>C (p.Tyr442His) c.859T>C (p.Tyr287His) c.206+1997T>C c.*890T>C (n.*890T>C) | dbSNP gnomAD v4 |
| 14 | g.87945731A>T | CA390746343 | GALC | c.1492T>A (p.Tyr498Asn) c.1423T>A (p.Tyr475Asn) c.1414T>A (p.Tyr472Asn) c.1324T>A (p.Tyr442Asn) c.859T>A (p.Tyr287Asn) c.206+1997T>A c.*890T>A (n.*890T>A) | |
| 14 | g.87945732A>C | CA390746345 | GALC | c.1491T>G (p.Asp497Glu) c.1422T>G (p.Asp474Glu) c.1413T>G (p.Asp471Glu) c.1323T>G (p.Asp441Glu) c.858T>G (p.Asp286Glu) c.206+1996T>G c.*889T>G (n.*889T>G) | |
| 14 | g.87945732A>G | CA487355587 | GALC | c.1491T>C (p.Asp497=) c.1422T>C (p.Asp474=) c.1413T>C (p.Asp471=) c.1323T>C (p.Asp441=) c.858T>C (p.Asp286=) c.206+1996T>C c.*889T>C (n.*889T>C) | |
| 14 | g.87945732A>T | CA390746346 | GALC | c.1491T>A (p.Asp497Glu) c.1422T>A (p.Asp474Glu) c.1413T>A (p.Asp471Glu) c.1323T>A (p.Asp441Glu) c.858T>A (p.Asp286Glu) c.206+1996T>A c.*889T>A (n.*889T>A) | |
| 14 | g.87945733T>A | CA390746347 | GALC | c.1490A>T (p.Asp497Val) c.1421A>T (p.Asp474Val) c.1412A>T (p.Asp471Val) c.1322A>T (p.Asp441Val) c.857A>T (p.Asp286Val) c.206+1995A>T c.*888A>T (n.*888A>T) | |
| 14 | g.87945733T>C | CA390746348 | GALC | c.1490A>G (p.Asp497Gly) c.1421A>G (p.Asp474Gly) c.1412A>G (p.Asp471Gly) c.1322A>G (p.Asp441Gly) c.857A>G (p.Asp286Gly) c.206+1995A>G c.*888A>G (n.*888A>G) | |
| 14 | g.87945733T>G | CA390746349 | GALC | c.1490A>C (p.Asp497Ala) c.1421A>C (p.Asp474Ala) c.1412A>C (p.Asp471Ala) c.1322A>C (p.Asp441Ala) c.857A>C (p.Asp286Ala) c.206+1995A>C c.*888A>C (n.*888A>C) | |
| 14 | g.87945734_87945735dup | CA2625979035 | GALC | c.1490-1_1490dup c.1421-1_1421dup c.1412-1_1412dup c.1322-1_1322dup c.857-1_857dup c.206+1994_206+1995dup c.*888-1_*888dup | gnomAD v4 |
| 14 | g.87945734C>A | CA390746350 | GALC | c.1490-1G>T (n.1490-1G>T) c.1421-1G>T (n.1421-1G>T) c.1412-1G>T (n.1412-1G>T) c.1322-1G>T (n.1322-1G>T) c.857-1G>T (n.857-1G>T) c.206+1994G>T c.*888-1G>T (n.*888-1G>T) | |
| 14 | g.87945734C>G | CA390746351 | GALC | c.1490-1G>C (n.1490-1G>C) c.1421-1G>C (n.1421-1G>C) c.1412-1G>C (n.1412-1G>C) c.1322-1G>C (n.1322-1G>C) c.857-1G>C (n.857-1G>C) c.206+1994G>C c.*888-1G>C (n.*888-1G>C) | |
| 14 | g.87945734C>T | CA390746352 | GALC | c.1490-1G>A (n.1490-1G>A) c.1421-1G>A (n.1421-1G>A) c.1412-1G>A (n.1412-1G>A) c.1322-1G>A (n.1322-1G>A) c.857-1G>A (n.857-1G>A) c.206+1994G>A c.*888-1G>A (n.*888-1G>A) | |
| 14 | g.87945734_87945735insAACATTGAAATCATCCT | CA2730142090 | GALC | c.1490-2_1490-1insAGGATGATTTCAATGTT (n.1490-2_1490-1insAGGATGATTTCAATGTT) c.1421-2_1421-1insAGGATGATTTCAATGTT (n.1421-2_1421-1insAGGATGATTTCAATGTT) c.1412-2_1412-1insAGGATGATTTCAATGTT (n.1412-2_1412-1insAGGATGATTTCAATGTT) c.1322-2_1322-1insAGGATGATTTCAATGTT (n.1322-2_1322-1insAGGATGATTTCAATGTT) c.857-2_857-1insAGGATGATTTCAATGTT (n.857-2_857-1insAGGATGATTTCAATGTT) c.206+1993_206+1994insAGGATGATTTCAATGTT c.*888-2_*888-1insAGGATGATTTCAATGTT (n.*888-2_*888-1insAGGATGATTTCAATGTT) | dbSNP |
| 14 | g.87945735T>A | CA390746353 | GALC | c.1490-2A>T (n.1490-2A>T) c.1421-2A>T (n.1421-2A>T) c.1412-2A>T (n.1412-2A>T) c.1322-2A>T (n.1322-2A>T) c.857-2A>T (n.857-2A>T) c.206+1993A>T c.*888-2A>T (n.*888-2A>T) | |
| 14 | g.87945735T>C | CA390746354 | GALC | c.1490-2A>G (n.1490-2A>G) c.1421-2A>G (n.1421-2A>G) c.1412-2A>G (n.1412-2A>G) c.1322-2A>G (n.1322-2A>G) c.857-2A>G (n.857-2A>G) c.206+1993A>G c.*888-2A>G (n.*888-2A>G) | gnomAD v4 |
| 14 | g.87945735T>G | CA390746355 | GALC | c.1490-2A>C (n.1490-2A>C) c.1421-2A>C (n.1421-2A>C) c.1412-2A>C (n.1412-2A>C) c.1322-2A>C (n.1322-2A>C) c.857-2A>C (n.857-2A>C) c.206+1993A>C c.*888-2A>C (n.*888-2A>C) | |
| 14 | g.87945737T>C | CA7296990 | GALC | c.1490-4A>G (n.1490-4A>G) c.1421-4A>G (n.1421-4A>G) c.1412-4A>G (n.1412-4A>G) c.1322-4A>G (n.1322-4A>G) c.857-4A>G (n.857-4A>G) c.206+1991A>G c.*888-4A>G (n.*888-4A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945737T= | CA2153356997 | GALC | c.1490-4A= (n.1490-4A=) c.1421-4A= (n.1421-4A=) c.1412-4A= (n.1412-4A=) c.1322-4A= (n.1322-4A=) c.857-4A= (n.857-4A=) c.206+1991A= c.*888-4A= (n.*888-4A=) | |
| 14 | g.87945738T>A | CA2153357000 | GALC | c.1490-5A>T (n.1490-5A>T) c.1421-5A>T (n.1421-5A>T) c.1412-5A>T (n.1412-5A>T) c.1322-5A>T (n.1322-5A>T) c.857-5A>T (n.857-5A>T) c.206+1990A>T c.*888-5A>T (n.*888-5A>T) | dbSNP |
| 14 | g.87945738T= | CA2153356999 | GALC | c.1490-5A= (n.1490-5A=) c.1421-5A= (n.1421-5A=) c.1412-5A= (n.1412-5A=) c.1322-5A= (n.1322-5A=) c.857-5A= (n.857-5A=) c.206+1990A= c.*888-5A= (n.*888-5A=) | |
| 14 | g.87945739C= | CA2153357001 | GALC | c.1490-6G= (n.1490-6G=) c.1421-6G= (n.1421-6G=) c.1412-6G= (n.1412-6G=) c.1322-6G= (n.1322-6G=) c.857-6G= (n.857-6G=) c.206+1989G= c.*888-6G= (n.*888-6G=) | |
| 14 | g.87945739C>T | CA7296991 | GALC | c.1490-6G>A (n.1490-6G>A) c.1421-6G>A (n.1421-6G>A) c.1412-6G>A (n.1412-6G>A) c.1322-6G>A (n.1322-6G>A) c.857-6G>A (n.857-6G>A) c.206+1989G>A c.*888-6G>A (n.*888-6G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945740A= | CA2153357003 | GALC | c.1490-7T= (n.1490-7T=) c.1421-7T= (n.1421-7T=) c.1412-7T= (n.1412-7T=) c.1322-7T= (n.1322-7T=) c.857-7T= (n.857-7T=) c.206+1988T= c.*888-7T= (n.*888-7T=) | |
| 14 | g.87945740A>T | CA1139663614 | GALC | c.1490-7T>A (n.1490-7T>A) c.1421-7T>A (n.1421-7T>A) c.1412-7T>A (n.1412-7T>A) c.1322-7T>A (n.1322-7T>A) c.857-7T>A (n.857-7T>A) c.206+1988T>A c.*888-7T>A (n.*888-7T>A) | ClinVar dbSNP |
| 14 | g.87945741G>A | CA709650042 | GALC | c.1490-8C>T (n.1490-8C>T) c.1421-8C>T (n.1421-8C>T) c.1412-8C>T (n.1412-8C>T) c.1322-8C>T (n.1322-8C>T) c.857-8C>T (n.857-8C>T) c.206+1987C>T c.*888-8C>T (n.*888-8C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87945741G>C | CA1139663615 | GALC | c.1490-8C>G (n.1490-8C>G) c.1421-8C>G (n.1421-8C>G) c.1412-8C>G (n.1412-8C>G) c.1322-8C>G (n.1322-8C>G) c.857-8C>G (n.857-8C>G) c.206+1987C>G c.*888-8C>G (n.*888-8C>G) | ClinVar dbSNP |
| 14 | g.87945741G= | CA2153357008 | GALC | c.1490-8C= (n.1490-8C=) c.1421-8C= (n.1421-8C=) c.1412-8C= (n.1412-8C=) c.1322-8C= (n.1322-8C=) c.857-8C= (n.857-8C=) c.206+1987C= c.*888-8C= (n.*888-8C=) | |
| 14 | g.87945741G>T | CA2625979036 | GALC | c.1490-8C>A (n.1490-8C>A) c.1421-8C>A (n.1421-8C>A) c.1412-8C>A (n.1412-8C>A) c.1322-8C>A (n.1322-8C>A) c.857-8C>A (n.857-8C>A) c.206+1987C>A c.*888-8C>A (n.*888-8C>A) | gnomAD v4 |
| 14 | g.87945744T>A | CA615670057 | GALC | c.1490-11A>T (n.1490-11A>T) c.1421-11A>T (n.1421-11A>T) c.1412-11A>T (n.1412-11A>T) c.1322-11A>T (n.1322-11A>T) c.857-11A>T (n.857-11A>T) c.206+1984A>T c.*888-11A>T (n.*888-11A>T) | ClinVar dbSNP gnomAD v2 |
| 14 | g.87945744T>C | CA615670058 | GALC | c.1490-11A>G (n.1490-11A>G) c.1421-11A>G (n.1421-11A>G) c.1412-11A>G (n.1412-11A>G) c.1322-11A>G (n.1322-11A>G) c.857-11A>G (n.857-11A>G) c.206+1984A>G c.*888-11A>G (n.*888-11A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945744T= | CA2153357011 | GALC | c.1490-11A= (n.1490-11A=) c.1421-11A= (n.1421-11A=) c.1412-11A= (n.1412-11A=) c.1322-11A= (n.1322-11A=) c.857-11A= (n.857-11A=) c.206+1984A= c.*888-11A= (n.*888-11A=) | |
| 14 | g.87945745G>A | CA709650050 | GALC | c.1490-12C>T (n.1490-12C>T) c.1421-12C>T (n.1421-12C>T) c.1412-12C>T (n.1412-12C>T) c.1322-12C>T (n.1322-12C>T) c.857-12C>T (n.857-12C>T) c.206+1983C>T c.*888-12C>T (n.*888-12C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87945745G= | CA2153357013 | GALC | c.1490-12C= (n.1490-12C=) c.1421-12C= (n.1421-12C=) c.1412-12C= (n.1412-12C=) c.1322-12C= (n.1322-12C=) c.857-12C= (n.857-12C=) c.206+1983C= c.*888-12C= (n.*888-12C=) | |
| 14 | g.87945745G>T | CA2625979037 | GALC | c.1490-12C>A (n.1490-12C>A) c.1421-12C>A (n.1421-12C>A) c.1412-12C>A (n.1412-12C>A) c.1322-12C>A (n.1322-12C>A) c.857-12C>A (n.857-12C>A) c.206+1983C>A c.*888-12C>A (n.*888-12C>A) | gnomAD v4 |
| 14 | g.87945746dup | CA2625979038 | GALC | c.1490-13dup (n.1490-13dup) c.1421-13dup (n.1421-13dup) c.1412-13dup (n.1412-13dup) c.1322-13dup (n.1322-13dup) c.857-13dup (n.857-13dup) c.206+1982dup c.*888-13dup (n.*888-13dup) | ClinVar gnomAD v4 |
| 14 | g.87945748del | CA2625979039 | GALC | c.1490-14del (n.1490-14del) c.1421-14del (n.1421-14del) c.1412-14del (n.1412-14del) c.1322-14del (n.1322-14del) c.857-14del (n.857-14del) c.206+1981del c.*888-14del (n.*888-14del) | gnomAD v4 |