UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87945577A>C | CA390745999 | GALC | c.1646T>G (p.Ile549Ser) c.1577T>G (p.Ile526Ser) c.1568T>G (p.Ile523Ser) c.1478T>G (p.Ile493Ser) c.1013T>G (p.Ile338Ser) c.206+2151T>G c.*1044T>G (n.*1044T>G) | |
| 14 | g.87945577A>G | CA390746000 | GALC | c.1646T>C (p.Ile549Thr) c.1577T>C (p.Ile526Thr) c.1568T>C (p.Ile523Thr) c.1478T>C (p.Ile493Thr) c.1013T>C (p.Ile338Thr) c.206+2151T>C c.*1044T>C (n.*1044T>C) | |
| 14 | g.87945577A>T | CA390746001 | GALC | c.1646T>A (p.Ile549Asn) c.1577T>A (p.Ile526Asn) c.1568T>A (p.Ile523Asn) c.1478T>A (p.Ile493Asn) c.1013T>A (p.Ile338Asn) c.206+2151T>A c.*1044T>A (n.*1044T>A) | |
| 14 | g.87945578T>A | CA390746002 | GALC | c.1645A>T (p.Ile549Phe) c.1576A>T (p.Ile526Phe) c.1567A>T (p.Ile523Phe) c.1477A>T (p.Ile493Phe) c.1012A>T (p.Ile338Phe) c.206+2150A>T c.*1043A>T (n.*1043A>T) | |
| 14 | g.87945578T>C | CA390746003 | GALC | c.1645A>G (p.Ile549Val) c.1576A>G (p.Ile526Val) c.1567A>G (p.Ile523Val) c.1477A>G (p.Ile493Val) c.1012A>G (p.Ile338Val) c.206+2150A>G c.*1043A>G (n.*1043A>G) | dbSNP gnomAD v4 |
| 14 | g.87945578T>G | CA390746004 | GALC | c.1645A>C (p.Ile549Leu) c.1576A>C (p.Ile526Leu) c.1567A>C (p.Ile523Leu) c.1477A>C (p.Ile493Leu) c.1012A>C (p.Ile338Leu) c.206+2150A>C c.*1043A>C (n.*1043A>C) | gnomAD v4 |
| 14 | g.87945578T= | CA2153356505 | GALC | c.1645A= (p.Ile549=) c.1576A= (p.Ile526=) c.1567A= (p.Ile523=) c.1477A= (p.Ile493=) c.1012A= (p.Ile338=) c.206+2150A= c.*1043A= (n.*1043A=) | |
| 14 | g.87945579T>A | CA487355492 | GALC | c.1644A>T (p.Thr548=) c.1575A>T (p.Thr525=) c.1566A>T (p.Thr522=) c.1476A>T (p.Thr492=) c.1011A>T (p.Thr337=) c.206+2149A>T c.*1042A>T (n.*1042A>T) | gnomAD v4 |
| 14 | g.87945579T>C | CA487355491 | GALC | c.1644A>G (p.Thr548=) c.1575A>G (p.Thr525=) c.1566A>G (p.Thr522=) c.1476A>G (p.Thr492=) c.1011A>G (p.Thr337=) c.206+2149A>G c.*1042A>G (n.*1042A>G) | |
| 14 | g.87945579T>G | CA487355490 | GALC | c.1644A>C (p.Thr548=) c.1575A>C (p.Thr525=) c.1566A>C (p.Thr522=) c.1476A>C (p.Thr492=) c.1011A>C (p.Thr337=) c.206+2149A>C c.*1042A>C (n.*1042A>C) | |
| 14 | g.87945580G>A | CA390746005 | GALC | c.1643C>T (p.Thr548Ile) c.1574C>T (p.Thr525Ile) c.1565C>T (p.Thr522Ile) c.1475C>T (p.Thr492Ile) c.1010C>T (p.Thr337Ile) c.206+2148C>T c.*1041C>T (n.*1041C>T) | |
| 14 | g.87945580G>C | CA390746006 | GALC | c.1643C>G (p.Thr548Arg) c.1574C>G (p.Thr525Arg) c.1565C>G (p.Thr522Arg) c.1475C>G (p.Thr492Arg) c.1010C>G (p.Thr337Arg) c.206+2148C>G c.*1041C>G (n.*1041C>G) | |
| 14 | g.87945580G>T | CA390746007 | GALC | c.1643C>A (p.Thr548Lys) c.1574C>A (p.Thr525Lys) c.1565C>A (p.Thr522Lys) c.1475C>A (p.Thr492Lys) c.1010C>A (p.Thr337Lys) c.206+2148C>A c.*1041C>A (n.*1041C>A) | gnomAD v4 |
| 14 | g.87945581T>A | CA390746009 | GALC | c.1642A>T (p.Thr548Ser) c.1573A>T (p.Thr525Ser) c.1564A>T (p.Thr522Ser) c.1474A>T (p.Thr492Ser) c.1009A>T (p.Thr337Ser) c.206+2147A>T c.*1040A>T (n.*1040A>T) | |
| 14 | g.87945581T>C | CA10645180 | GALC | c.1642A>G (p.Thr548Ala) c.1573A>G (p.Thr525Ala) c.1564A>G (p.Thr522Ala) c.1474A>G (p.Thr492Ala) c.1009A>G (p.Thr337Ala) c.206+2147A>G c.*1040A>G (n.*1040A>G) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87945581T>G | CA390746008 | GALC | c.1642A>C (p.Thr548Pro) c.1573A>C (p.Thr525Pro) c.1564A>C (p.Thr522Pro) c.1474A>C (p.Thr492Pro) c.1009A>C (p.Thr337Pro) c.206+2147A>C c.*1040A>C (n.*1040A>C) | gnomAD v4 |
| 14 | g.87945581T= | CA2153356510 | GALC | c.1642A= (p.Thr548=) c.1573A= (p.Thr525=) c.1564A= (p.Thr522=) c.1474A= (p.Thr492=) c.1009A= (p.Thr337=) c.206+2147A= c.*1040A= (n.*1040A=) | |
| 14 | g.87945582G>A | CA487355493 | GALC | c.1641C>T (p.Asn547=) c.1572C>T (p.Asn524=) c.1563C>T (p.Asn521=) c.1473C>T (p.Asn491=) c.1008C>T (p.Asn336=) c.206+2146C>T c.*1039C>T (n.*1039C>T) | |
| 14 | g.87945582G>C | CA390746010 | GALC | c.1641C>G (p.Asn547Lys) c.1572C>G (p.Asn524Lys) c.1563C>G (p.Asn521Lys) c.1473C>G (p.Asn491Lys) c.1008C>G (p.Asn336Lys) c.206+2146C>G c.*1039C>G (n.*1039C>G) | |
| 14 | g.87945582G>T | CA390746011 | GALC | c.1641C>A (p.Asn547Lys) c.1572C>A (p.Asn524Lys) c.1563C>A (p.Asn521Lys) c.1473C>A (p.Asn491Lys) c.1008C>A (p.Asn336Lys) c.206+2146C>A c.*1039C>A (n.*1039C>A) | gnomAD v4 |
| 14 | g.87945583T>A | CA390746012 | GALC | c.1640A>T (p.Asn547Ile) c.1571A>T (p.Asn524Ile) c.1562A>T (p.Asn521Ile) c.1472A>T (p.Asn491Ile) c.1007A>T (p.Asn336Ile) c.206+2145A>T c.*1038A>T (n.*1038A>T) | |
| 14 | g.87945583T>C | CA390746013 | GALC | c.1640A>G (p.Asn547Ser) c.1571A>G (p.Asn524Ser) c.1562A>G (p.Asn521Ser) c.1472A>G (p.Asn491Ser) c.1007A>G (p.Asn336Ser) c.206+2145A>G c.*1038A>G (n.*1038A>G) | |
| 14 | g.87945583T>G | CA390746014 | GALC | c.1640A>C (p.Asn547Thr) c.1571A>C (p.Asn524Thr) c.1562A>C (p.Asn521Thr) c.1472A>C (p.Asn491Thr) c.1007A>C (p.Asn336Thr) c.206+2145A>C c.*1038A>C (n.*1038A>C) | |
| 14 | g.87945584T>A | CA390746015 | GALC | c.1639A>T (p.Asn547Tyr) c.1570A>T (p.Asn524Tyr) c.1561A>T (p.Asn521Tyr) c.1471A>T (p.Asn491Tyr) c.1006A>T (p.Asn336Tyr) c.206+2144A>T c.*1037A>T (n.*1037A>T) | |
| 14 | g.87945584T>C | CA390746016 | GALC | c.1639A>G (p.Asn547Asp) c.1570A>G (p.Asn524Asp) c.1561A>G (p.Asn521Asp) c.1471A>G (p.Asn491Asp) c.1006A>G (p.Asn336Asp) c.206+2144A>G c.*1037A>G (n.*1037A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945584T>G | CA390746017 | GALC | c.1639A>C (p.Asn547His) c.1570A>C (p.Asn524His) c.1561A>C (p.Asn521His) c.1471A>C (p.Asn491His) c.1006A>C (p.Asn336His) c.206+2144A>C c.*1037A>C (n.*1037A>C) | |
| 14 | g.87945584T= | CA2153356515 | GALC | c.1639A= (p.Asn547=) c.1570A= (p.Asn524=) c.1561A= (p.Asn521=) c.1471A= (p.Asn491=) c.1006A= (p.Asn336=) c.206+2144A= c.*1037A= (n.*1037A=) | |
| 14 | g.87945585G>A | CA487355494 | GALC | c.1638C>T (p.Ser546=) c.1569C>T (p.Ser523=) c.1560C>T (p.Ser520=) c.1470C>T (p.Ser490=) c.1005C>T (p.Ser335=) c.206+2143C>T c.*1036C>T (n.*1036C>T) | ClinVar gnomAD v4 |
| 14 | g.87945585G>C | CA487355495 | GALC | c.1638C>G (p.Ser546=) c.1569C>G (p.Ser523=) c.1560C>G (p.Ser520=) c.1470C>G (p.Ser490=) c.1005C>G (p.Ser335=) c.206+2143C>G c.*1036C>G (n.*1036C>G) | |
| 14 | g.87945585G= | CA2153356521 | GALC | c.1638C= (p.Ser546=) c.1569C= (p.Ser523=) c.1560C= (p.Ser520=) c.1470C= (p.Ser490=) c.1005C= (p.Ser335=) c.206+2143C= c.*1036C= (n.*1036C=) | |
| 14 | g.87945585G>T | CA7296965 | GALC | c.1638C>A (p.Ser546=) c.1569C>A (p.Ser523=) c.1560C>A (p.Ser520=) c.1470C>A (p.Ser490=) c.1005C>A (p.Ser335=) c.206+2143C>A c.*1036C>A (n.*1036C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945586G>A | CA390746018 | GALC | c.1637C>T (p.Ser546Phe) c.1568C>T (p.Ser523Phe) c.1559C>T (p.Ser520Phe) c.1469C>T (p.Ser490Phe) c.1004C>T (p.Ser335Phe) c.206+2142C>T c.*1035C>T (n.*1035C>T) | |
| 14 | g.87945586G>C | CA390746019 | GALC | c.1637C>G (p.Ser546Cys) c.1568C>G (p.Ser523Cys) c.1559C>G (p.Ser520Cys) c.1469C>G (p.Ser490Cys) c.1004C>G (p.Ser335Cys) c.206+2142C>G c.*1035C>G (n.*1035C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945586G= | CA2153356523 | GALC | c.1637C= (p.Ser546=) c.1568C= (p.Ser523=) c.1559C= (p.Ser520=) c.1469C= (p.Ser490=) c.1004C= (p.Ser335=) c.206+2142C= c.*1035C= (n.*1035C=) | |
| 14 | g.87945586G>T | CA390746020 | GALC | c.1637C>A (p.Ser546Tyr) c.1568C>A (p.Ser523Tyr) c.1559C>A (p.Ser520Tyr) c.1469C>A (p.Ser490Tyr) c.1004C>A (p.Ser335Tyr) c.206+2142C>A c.*1035C>A (n.*1035C>A) | |
| 14 | g.87945587A>C | CA390746023 | GALC | c.1636T>G (p.Ser546Ala) c.1567T>G (p.Ser523Ala) c.1558T>G (p.Ser520Ala) c.1468T>G (p.Ser490Ala) c.1003T>G (p.Ser335Ala) c.206+2141T>G c.*1034T>G (n.*1034T>G) | |
| 14 | g.87945587A>G | CA390746022 | GALC | c.1636T>C (p.Ser546Pro) c.1567T>C (p.Ser523Pro) c.1558T>C (p.Ser520Pro) c.1468T>C (p.Ser490Pro) c.1003T>C (p.Ser335Pro) c.206+2141T>C c.*1034T>C (n.*1034T>C) | |
| 14 | g.87945587A>T | CA390746021 | GALC | c.1636T>A (p.Ser546Thr) c.1567T>A (p.Ser523Thr) c.1558T>A (p.Ser520Thr) c.1468T>A (p.Ser490Thr) c.1003T>A (p.Ser335Thr) c.206+2141T>A c.*1034T>A (n.*1034T>A) | |
| 14 | g.87945588T>A | CA487355496 | GALC | c.1635A>T (p.Ala545=) c.1566A>T (p.Ala522=) c.1557A>T (p.Ala519=) c.1467A>T (p.Ala489=) c.1002A>T (p.Ala334=) c.206+2140A>T c.*1033A>T (n.*1033A>T) | |
| 14 | g.87945588T>C | CA487355497 | GALC | c.1635A>G (p.Ala545=) c.1566A>G (p.Ala522=) c.1557A>G (p.Ala519=) c.1467A>G (p.Ala489=) c.1002A>G (p.Ala334=) c.206+2140A>G c.*1033A>G (n.*1033A>G) | |
| 14 | g.87945588T>G | CA487355498 | GALC | c.1635A>C (p.Ala545=) c.1566A>C (p.Ala522=) c.1557A>C (p.Ala519=) c.1467A>C (p.Ala489=) c.1002A>C (p.Ala334=) c.206+2140A>C c.*1033A>C (n.*1033A>C) | |
| 14 | g.87945589G>A | CA390746024 | GALC | c.1634C>T (p.Ala545Val) c.1565C>T (p.Ala522Val) c.1556C>T (p.Ala519Val) c.1466C>T (p.Ala489Val) c.1001C>T (p.Ala334Val) c.206+2139C>T c.*1032C>T (n.*1032C>T) | gnomAD v4 |
| 14 | g.87945589G>C | CA390746025 | GALC | c.1634C>G (p.Ala545Gly) c.1565C>G (p.Ala522Gly) c.1556C>G (p.Ala519Gly) c.1466C>G (p.Ala489Gly) c.1001C>G (p.Ala334Gly) c.206+2139C>G c.*1032C>G (n.*1032C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87945589G= | CA2153356526 | GALC | c.1634C= (p.Ala545=) c.1565C= (p.Ala522=) c.1556C= (p.Ala519=) c.1466C= (p.Ala489=) c.1001C= (p.Ala334=) c.206+2139C= c.*1032C= (n.*1032C=) | |
| 14 | g.87945589G>T | CA390746026 | GALC | c.1634C>A (p.Ala545Glu) c.1565C>A (p.Ala522Glu) c.1556C>A (p.Ala519Glu) c.1466C>A (p.Ala489Glu) c.1001C>A (p.Ala334Glu) c.206+2139C>A c.*1032C>A (n.*1032C>A) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87945589_87945590insTGTTTGG | CA2802492047 | GALC | c.1634_1635insCAAACAC (p.Ser546LysfsTer22) c.1565_1566insCAAACAC (p.Ser523LysfsTer22) c.1556_1557insCAAACAC (p.Ser520LysfsTer22) c.1466_1467insCAAACAC (p.Ser490LysfsTer22) c.1001_1002insCAAACAC (p.Ser335LysfsTer22) c.206+2139_206+2140insCAAACAC c.*1032_*1033insCAAACAC (n.*1032_*1033insCAAACAC) | |
| 14 | g.87945590C>A | CA390746027 | GALC | c.1633G>T (p.Ala545Ser) c.1564G>T (p.Ala522Ser) c.1555G>T (p.Ala519Ser) c.1465G>T (p.Ala489Ser) c.1000G>T (p.Ala334Ser) c.206+2138G>T c.*1031G>T (n.*1031G>T) | |
| 14 | g.87945590C>G | CA390746028 | GALC | c.1633G>C (p.Ala545Pro) c.1564G>C (p.Ala522Pro) c.1555G>C (p.Ala519Pro) c.1465G>C (p.Ala489Pro) c.1000G>C (p.Ala334Pro) c.206+2138G>C c.*1031G>C (n.*1031G>C) | |
| 14 | g.87945590C>T | CA390746029 | GALC | c.1633G>A (p.Ala545Thr) c.1564G>A (p.Ala522Thr) c.1555G>A (p.Ala519Thr) c.1465G>A (p.Ala489Thr) c.1000G>A (p.Ala334Thr) c.206+2138G>A c.*1031G>A (n.*1031G>A) | gnomAD v4 |
| 14 | g.87945590_87945591del | CA2802492048 | GALC | c.1632_1633del (p.Ala545IlefsTer20) c.1563_1564del (p.Ala522IlefsTer20) c.1554_1555del (p.Ala519IlefsTer20) c.1464_1465del (p.Ala489IlefsTer20) c.999_1000del (p.Ala334IlefsTer20) c.206+2137_206+2138del c.*1030_*1031del (n.*1030_*1031del) | |
| 14 | g.87945590_87945602del | CA2802492049 | GALC | c.1621_1633del (p.Trp541HisfsTer8) c.1552_1564del (p.Trp518HisfsTer8) c.1543_1555del (p.Trp515HisfsTer8) c.1453_1465del (p.Trp485HisfsTer8) c.988_1000del (p.Trp330HisfsTer8) c.206+2126_206+2138del c.*1019_*1031del (n.*1019_*1031del) | |
| 14 | g.87945591A= | CA2153356531 | GALC | c.1632T= (p.Asp544=) c.1563T= (p.Asp521=) c.1554T= (p.Asp518=) c.1464T= (p.Asp488=) c.999T= (p.Asp333=) c.206+2137T= c.*1030T= (n.*1030T=) | |
| 14 | g.87945591A>C | CA390746030 | GALC | c.1632T>G (p.Asp544Glu) c.1563T>G (p.Asp521Glu) c.1554T>G (p.Asp518Glu) c.1464T>G (p.Asp488Glu) c.999T>G (p.Asp333Glu) c.206+2137T>G c.*1030T>G (n.*1030T>G) | |
| 14 | g.87945591A>G | CA7296966 | GALC | c.1632T>C (p.Asp544=) c.1563T>C (p.Asp521=) c.1554T>C (p.Asp518=) c.1464T>C (p.Asp488=) c.999T>C (p.Asp333=) c.206+2137T>C c.*1030T>C (n.*1030T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945591A>T | CA390746031 | GALC | c.1632T>A (p.Asp544Glu) c.1563T>A (p.Asp521Glu) c.1554T>A (p.Asp518Glu) c.1464T>A (p.Asp488Glu) c.999T>A (p.Asp333Glu) c.206+2137T>A c.*1030T>A (n.*1030T>A) | |
| 14 | g.87945592T>A | CA390746032 | GALC | c.1631A>T (p.Asp544Val) c.1562A>T (p.Asp521Val) c.1553A>T (p.Asp518Val) c.1463A>T (p.Asp488Val) c.998A>T (p.Asp333Val) c.206+2136A>T c.*1029A>T (n.*1029A>T) | |
| 14 | g.87945592T>C | CA390746033 | GALC | c.1631A>G (p.Asp544Gly) c.1562A>G (p.Asp521Gly) c.1553A>G (p.Asp518Gly) c.1463A>G (p.Asp488Gly) c.998A>G (p.Asp333Gly) c.206+2136A>G c.*1029A>G (n.*1029A>G) | |
| 14 | g.87945592T>G | CA390746034 | GALC | c.1631A>C (p.Asp544Ala) c.1562A>C (p.Asp521Ala) c.1553A>C (p.Asp518Ala) c.1463A>C (p.Asp488Ala) c.998A>C (p.Asp333Ala) c.206+2136A>C c.*1029A>C (n.*1029A>C) | |
| 14 | g.87945593C>A | CA390746036 | GALC | c.1630G>T (p.Asp544Tyr) c.1561G>T (p.Asp521Tyr) c.1552G>T (p.Asp518Tyr) c.1462G>T (p.Asp488Tyr) c.997G>T (p.Asp333Tyr) c.206+2135G>T c.*1028G>T (n.*1028G>T) | |
| 14 | g.87945593C= | CA2153356541 | GALC | c.1630G= (p.Asp544=) c.1561G= (p.Asp521=) c.1552G= (p.Asp518=) c.1462G= (p.Asp488=) c.997G= (p.Asp333=) c.206+2135G= c.*1028G= (n.*1028G=) | |
| 14 | g.87945593C>G | CA390746035 | GALC | c.1630G>C (p.Asp544His) c.1561G>C (p.Asp521His) c.1552G>C (p.Asp518His) c.1462G>C (p.Asp488His) c.997G>C (p.Asp333His) c.206+2135G>C c.*1028G>C (n.*1028G>C) | |
| 14 | g.87945593C>T | CA259863 | GALC | c.1630G>A (p.Asp544Asn) c.1561G>A (p.Asp521Asn) c.1552G>A (p.Asp518Asn) c.1462G>A (p.Asp488Asn) c.997G>A (p.Asp333Asn) c.206+2135G>A c.*1028G>A (n.*1028G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.87945594G>A | CA7296967 | GALC | c.1629C>T (p.Ala543=) c.1560C>T (p.Ala520=) c.1551C>T (p.Ala517=) c.1461C>T (p.Ala487=) c.996C>T (p.Ala332=) c.206+2134C>T c.*1027C>T (n.*1027C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945594G>C | CA487355499 | GALC | c.1629C>G (p.Ala543=) c.1560C>G (p.Ala520=) c.1551C>G (p.Ala517=) c.1461C>G (p.Ala487=) c.996C>G (p.Ala332=) c.206+2134C>G c.*1027C>G (n.*1027C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945594G= | CA2153356544 | GALC | c.1629C= (p.Ala543=) c.1560C= (p.Ala520=) c.1551C= (p.Ala517=) c.1461C= (p.Ala487=) c.996C= (p.Ala332=) c.206+2134C= c.*1027C= (n.*1027C=) | |
| 14 | g.87945594G>T | CA487355500 | GALC | c.1629C>A (p.Ala543=) c.1560C>A (p.Ala520=) c.1551C>A (p.Ala517=) c.1461C>A (p.Ala487=) c.996C>A (p.Ala332=) c.206+2134C>A c.*1027C>A (n.*1027C>A) | |
| 14 | g.87945595G>A | CA390746039 | GALC | c.1628C>T (p.Ala543Val) c.1559C>T (p.Ala520Val) c.1550C>T (p.Ala517Val) c.1460C>T (p.Ala487Val) c.995C>T (p.Ala332Val) c.206+2133C>T c.*1026C>T (n.*1026C>T) | gnomAD v4 |
| 14 | g.87945595G>C | CA390746037 | GALC | c.1628C>G (p.Ala543Gly) c.1559C>G (p.Ala520Gly) c.1550C>G (p.Ala517Gly) c.1460C>G (p.Ala487Gly) c.995C>G (p.Ala332Gly) c.206+2133C>G c.*1026C>G (n.*1026C>G) | |
| 14 | g.87945595G>T | CA390746038 | GALC | c.1628C>A (p.Ala543Asp) c.1559C>A (p.Ala520Asp) c.1550C>A (p.Ala517Asp) c.1460C>A (p.Ala487Asp) c.995C>A (p.Ala332Asp) c.206+2133C>A c.*1026C>A (n.*1026C>A) | |
| 14 | g.87945596C>A | CA390746040 | GALC | c.1627G>T (p.Ala543Ser) c.1558G>T (p.Ala520Ser) c.1549G>T (p.Ala517Ser) c.1459G>T (p.Ala487Ser) c.994G>T (p.Ala332Ser) c.206+2132G>T c.*1025G>T (n.*1025G>T) | |
| 14 | g.87945596C= | CA2153356545 | GALC | c.1627G= (p.Ala543=) c.1558G= (p.Ala520=) c.1549G= (p.Ala517=) c.1459G= (p.Ala487=) c.994G= (p.Ala332=) c.206+2132G= c.*1025G= (n.*1025G=) | |
| 14 | g.87945596C>G | CA390746041 | GALC | c.1627G>C (p.Ala543Pro) c.1558G>C (p.Ala520Pro) c.1549G>C (p.Ala517Pro) c.1459G>C (p.Ala487Pro) c.994G>C (p.Ala332Pro) c.206+2132G>C c.*1025G>C (n.*1025G>C) | |
| 14 | g.87945596C>T | CA7296968 | GALC | c.1627G>A (p.Ala543Thr) c.1558G>A (p.Ala520Thr) c.1549G>A (p.Ala517Thr) c.1459G>A (p.Ala487Thr) c.994G>A (p.Ala332Thr) c.206+2132G>A c.*1025G>A (n.*1025G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945596_87945602del | CA2802492050 | GALC | c.1621_1627del (p.Trp541ProfsTer10) c.1552_1558del (p.Trp518ProfsTer10) c.1543_1549del (p.Trp515ProfsTer10) c.1453_1459del (p.Trp485ProfsTer10) c.988_994del (p.Trp330ProfsTer10) c.206+2126_206+2132del c.*1019_*1025del (n.*1019_*1025del) | |
| 14 | g.87945597A>C | CA487355503 | GALC | c.1626T>G (p.Ala542=) c.1557T>G (p.Ala519=) c.1548T>G (p.Ala516=) c.1458T>G (p.Ala486=) c.993T>G (p.Ala331=) c.206+2131T>G c.*1024T>G (n.*1024T>G) | |
| 14 | g.87945597A>G | CA487355502 | GALC | c.1626T>C (p.Ala542=) c.1557T>C (p.Ala519=) c.1548T>C (p.Ala516=) c.1458T>C (p.Ala486=) c.993T>C (p.Ala331=) c.206+2131T>C c.*1024T>C (n.*1024T>C) | |
| 14 | g.87945597A>T | CA487355501 | GALC | c.1626T>A (p.Ala542=) c.1557T>A (p.Ala519=) c.1548T>A (p.Ala516=) c.1458T>A (p.Ala486=) c.993T>A (p.Ala331=) c.206+2131T>A c.*1024T>A (n.*1024T>A) | |
| 14 | g.87945598G>A | CA390746042 | GALC | c.1625C>T (p.Ala542Val) c.1556C>T (p.Ala519Val) c.1547C>T (p.Ala516Val) c.1457C>T (p.Ala486Val) c.992C>T (p.Ala331Val) c.206+2130C>T c.*1023C>T (n.*1023C>T) | |
| 14 | g.87945598G>C | CA390746043 | GALC | c.1625C>G (p.Ala542Gly) c.1556C>G (p.Ala519Gly) c.1547C>G (p.Ala516Gly) c.1457C>G (p.Ala486Gly) c.992C>G (p.Ala331Gly) c.206+2130C>G c.*1023C>G (n.*1023C>G) | |
| 14 | g.87945598G= | CA2153356546 | GALC | c.1625C= (p.Ala542=) c.1556C= (p.Ala519=) c.1547C= (p.Ala516=) c.1457C= (p.Ala486=) c.992C= (p.Ala331=) c.206+2130C= c.*1023C= (n.*1023C=) | |
| 14 | g.87945598G>T | CA390746044 | GALC | c.1625C>A (p.Ala542Asp) c.1556C>A (p.Ala519Asp) c.1547C>A (p.Ala516Asp) c.1457C>A (p.Ala486Asp) c.992C>A (p.Ala331Asp) c.206+2130C>A c.*1023C>A (n.*1023C>A) | gnomAD v4 |
| 14 | g.87945598_87945599insGC | CA7296969 | GALC | c.1624_1625insGC (p.Ala542GlyfsTer12) c.1555_1556insGC (p.Ala519GlyfsTer12) c.1546_1547insGC (p.Ala516GlyfsTer12) c.1456_1457insGC (p.Ala486GlyfsTer12) c.991_992insGC (p.Ala331GlyfsTer12) c.206+2129_206+2130insGC c.*1022_*1023insGC (n.*1022_*1023insGC) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945599C>A | CA390746046 | GALC | c.1624G>T (p.Ala542Ser) c.1555G>T (p.Ala519Ser) c.1546G>T (p.Ala516Ser) c.1456G>T (p.Ala486Ser) c.991G>T (p.Ala331Ser) c.206+2129G>T c.*1022G>T (n.*1022G>T) | |
| 14 | g.87945599C= | CA2153356547 | GALC | c.1624G= (p.Ala542=) c.1555G= (p.Ala519=) c.1546G= (p.Ala516=) c.1456G= (p.Ala486=) c.991G= (p.Ala331=) c.206+2129G= c.*1022G= (n.*1022G=) | |
| 14 | g.87945599C>G | CA7296970 | GALC | c.1624G>C (p.Ala542Pro) c.1555G>C (p.Ala519Pro) c.1546G>C (p.Ala516Pro) c.1456G>C (p.Ala486Pro) c.991G>C (p.Ala331Pro) c.206+2129G>C c.*1022G>C (n.*1022G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945599C>T | CA390746045 | GALC | c.1624G>A (p.Ala542Thr) c.1555G>A (p.Ala519Thr) c.1546G>A (p.Ala516Thr) c.1456G>A (p.Ala486Thr) c.991G>A (p.Ala331Thr) c.206+2129G>A c.*1022G>A (n.*1022G>A) | |
| 14 | g.87945600_87945601del | CA2625979033 | GALC | c.1623_1624del (p.Trp541CysfsTer24) c.1554_1555del (p.Trp518CysfsTer24) c.1545_1546del (p.Trp515CysfsTer24) c.1455_1456del (p.Trp485CysfsTer24) c.990_991del (p.Trp330CysfsTer24) c.206+2128_206+2129del c.*1021_*1022del (n.*1021_*1022del) | gnomAD v4 |
| 14 | g.87945600C>A | CA390746047 | GALC | c.1623G>T (p.Trp541Cys) c.1554G>T (p.Trp518Cys) c.1545G>T (p.Trp515Cys) c.1455G>T (p.Trp485Cys) c.990G>T (p.Trp330Cys) c.206+2128G>T c.*1021G>T (n.*1021G>T) | |
| 14 | g.87945600C>G | CA390746048 | GALC | c.1623G>C (p.Trp541Cys) c.1554G>C (p.Trp518Cys) c.1545G>C (p.Trp515Cys) c.1455G>C (p.Trp485Cys) c.990G>C (p.Trp330Cys) c.206+2128G>C c.*1021G>C (n.*1021G>C) | |
| 14 | g.87945600C>T | CA390746049 | GALC | c.1623G>A (p.Trp541Ter) c.1554G>A (p.Trp518Ter) c.1545G>A (p.Trp515Ter) c.1455G>A (p.Trp485Ter) c.990G>A (p.Trp330Ter) c.206+2128G>A c.*1021G>A (n.*1021G>A) | ClinVar |
| 14 | g.87945601C>A | CA390746050 | GALC | c.1622G>T (p.Trp541Leu) c.1553G>T (p.Trp518Leu) c.1544G>T (p.Trp515Leu) c.1454G>T (p.Trp485Leu) c.989G>T (p.Trp330Leu) c.206+2127G>T c.*1020G>T (n.*1020G>T) | ClinVar dbSNP |
| 14 | g.87945601C>G | CA390746052 | GALC | c.1622G>C (p.Trp541Ser) c.1553G>C (p.Trp518Ser) c.1544G>C (p.Trp515Ser) c.1454G>C (p.Trp485Ser) c.989G>C (p.Trp330Ser) c.206+2127G>C c.*1020G>C (n.*1020G>C) | |
| 14 | g.87945601C>T | CA390746051 | GALC | c.1622G>A (p.Trp541Ter) c.1553G>A (p.Trp518Ter) c.1544G>A (p.Trp515Ter) c.1454G>A (p.Trp485Ter) c.989G>A (p.Trp330Ter) c.206+2127G>A c.*1020G>A (n.*1020G>A) | |
| 14 | g.87945601_87945603delinsCAT | CA2153356551 | GALC | c.1620_1622delinsATG (p.Thr540=) c.1551_1553delinsATG (p.Thr517=) c.1542_1544delinsATG (p.Thr514=) c.1452_1454delinsATG (p.Thr484=) c.987_989delinsATG (p.Thr329=) c.206+2125_206+2127delinsATG c.*1018_*1020delinsATG (n.*1018_*1020delinsATG) | |
| 14 | g.87945602A= | CA2153356552 | GALC | c.1621T= (p.Trp541=) c.1552T= (p.Trp518=) c.1543T= (p.Trp515=) c.1453T= (p.Trp485=) c.988T= (p.Trp330=) c.206+2126T= c.*1019T= (n.*1019T=) | |
| 14 | g.87945602A>C | CA390746053 | GALC | c.1621T>G (p.Trp541Gly) c.1552T>G (p.Trp518Gly) c.1543T>G (p.Trp515Gly) c.1453T>G (p.Trp485Gly) c.988T>G (p.Trp330Gly) c.206+2126T>G c.*1019T>G (n.*1019T>G) | dbSNP |
| 14 | g.87945602A>G | CA390746054 | GALC | c.1621T>C (p.Trp541Arg) c.1552T>C (p.Trp518Arg) c.1543T>C (p.Trp515Arg) c.1453T>C (p.Trp485Arg) c.988T>C (p.Trp330Arg) c.206+2126T>C c.*1019T>C (n.*1019T>C) | |
| 14 | g.87945602A>T | CA390746055 | GALC | c.1621T>A (p.Trp541Arg) c.1552T>A (p.Trp518Arg) c.1543T>A (p.Trp515Arg) c.1453T>A (p.Trp485Arg) c.988T>A (p.Trp330Arg) c.206+2126T>A c.*1019T>A (n.*1019T>A) | |
| 14 | g.87945602_87945603del | CA7296971 | GALC | c.1620_1621del (p.Trp541GlyfsTer24) c.1551_1552del (p.Trp518GlyfsTer24) c.1542_1543del (p.Trp515GlyfsTer24) c.1452_1453del (p.Trp485GlyfsTer24) c.987_988del (p.Trp330GlyfsTer24) c.206+2125_206+2126del c.*1018_*1019del (n.*1018_*1019del) | dbSNP ExAC gnomAD v2 |
| 14 | g.87945603T>A | CA487355506 | GALC | c.1620A>T (p.Thr540=) c.1551A>T (p.Thr517=) c.1542A>T (p.Thr514=) c.1452A>T (p.Thr484=) c.987A>T (p.Thr329=) c.206+2125A>T c.*1018A>T (n.*1018A>T) | |
| 14 | g.87945603T>C | CA180080 | GALC | c.1620A>G (p.Thr540=) c.1551A>G (p.Thr517=) c.1542A>G (p.Thr514=) c.1452A>G (p.Thr484=) c.987A>G (p.Thr329=) c.206+2125A>G c.*1018A>G (n.*1018A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945603T>G | CA487355507 | GALC | c.1620A>C (p.Thr540=) c.1551A>C (p.Thr517=) c.1542A>C (p.Thr514=) c.1452A>C (p.Thr484=) c.987A>C (p.Thr329=) c.206+2125A>C c.*1018A>C (n.*1018A>C) | gnomAD v4 |
| 14 | g.87945603T= | CA658656459 | GALC | c.1620A= (p.Thr540=) c.1551A= (p.Thr517=) c.1542A= (p.Thr514=) c.1452A= (p.Thr484=) c.987A= (p.Thr329=) c.206+2125A= c.*1018A= (n.*1018A=) | |
| 14 | g.87945604G>A | CA7296972 | GALC | c.1619C>T (p.Thr540Ile) c.1550C>T (p.Thr517Ile) c.1541C>T (p.Thr514Ile) c.1451C>T (p.Thr484Ile) c.986C>T (p.Thr329Ile) c.206+2124C>T c.*1017C>T (n.*1017C>T) c.1619C>T (p.Thr540Met) c.1550C>T (p.Thr517Met) c.1541C>T (p.Thr514Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945604G>C | CA390746056 | GALC | c.1619C>G (p.Thr540Arg) c.1550C>G (p.Thr517Arg) c.1541C>G (p.Thr514Arg) c.1451C>G (p.Thr484Arg) c.986C>G (p.Thr329Arg) c.206+2124C>G c.*1017C>G (n.*1017C>G) | |
| 14 | g.87945604G= | CA2153356795 | GALC | c.1619C= (p.Thr540=) c.1550C= (p.Thr517=) c.1541C= (p.Thr514=) c.1451C= (p.Thr484=) c.986C= (p.Thr329=) c.206+2124C= c.*1017C= (n.*1017C=) | |
| 14 | g.87945604G>T | CA390746057 | GALC | c.1619C>A (p.Thr540Lys) c.1550C>A (p.Thr517Lys) c.1541C>A (p.Thr514Lys) c.1451C>A (p.Thr484Lys) c.986C>A (p.Thr329Lys) c.206+2124C>A c.*1017C>A (n.*1017C>A) | gnomAD v4 |
| 14 | g.87945605T>A | CA390746058 | GALC | c.1618A>T (p.Thr540Ser) c.1549A>T (p.Thr517Ser) c.1540A>T (p.Thr514Ser) c.1450A>T (p.Thr484Ser) c.985A>T (p.Thr329Ser) c.206+2123A>T c.*1016A>T (n.*1016A>T) | |
| 14 | g.87945605T>C | CA390746059 | GALC | c.1618A>G (p.Thr540Ala) c.1549A>G (p.Thr517Ala) c.1540A>G (p.Thr514Ala) c.1450A>G (p.Thr484Ala) c.985A>G (p.Thr329Ala) c.206+2123A>G c.*1016A>G (n.*1016A>G) | |
| 14 | g.87945605T>G | CA390746060 | GALC | c.1618A>C (p.Thr540Pro) c.1549A>C (p.Thr517Pro) c.1540A>C (p.Thr514Pro) c.1450A>C (p.Thr484Pro) c.985A>C (p.Thr329Pro) c.206+2123A>C c.*1016A>C (n.*1016A>C) | dbSNP |
| 14 | g.87945605T= | CA2153356799 | GALC | c.1618A= (p.Thr540=) c.1549A= (p.Thr517=) c.1540A= (p.Thr514=) c.1450A= (p.Thr484=) c.985A= (p.Thr329=) c.206+2123A= c.*1016A= (n.*1016A=) | |
| 14 | g.87945605_87945607delinsTAA | CA2153356798 | GALC | c.1616_1618delinsTTA (p.Ile539=) c.1547_1549delinsTTA (p.Ile516=) c.1538_1540delinsTTA (p.Ile513=) c.1448_1450delinsTTA (p.Ile483=) c.983_985delinsTTA (p.Ile328=) c.206+2121_206+2123delinsTTA c.*1014_*1016delinsTTA (n.*1014_*1016delinsTTA) | |
| 14 | g.87945606A>C | CA390746061 | GALC | c.1617T>G (p.Ile539Met) c.1548T>G (p.Ile516Met) c.1539T>G (p.Ile513Met) c.1449T>G (p.Ile483Met) c.984T>G (p.Ile328Met) c.206+2122T>G c.*1015T>G (n.*1015T>G) | |
| 14 | g.87945606A>G | CA487355508 | GALC | c.1617T>C (p.Ile539=) c.1548T>C (p.Ile516=) c.1539T>C (p.Ile513=) c.1449T>C (p.Ile483=) c.984T>C (p.Ile328=) c.206+2122T>C c.*1015T>C (n.*1015T>C) | gnomAD v4 |
| 14 | g.87945606A>T | CA487355509 | GALC | c.1617T>A (p.Ile539=) c.1548T>A (p.Ile516=) c.1539T>A (p.Ile513=) c.1449T>A (p.Ile483=) c.984T>A (p.Ile328=) c.206+2122T>A c.*1015T>A (n.*1015T>A) | |
| 14 | g.87945606_87945607del | CA615670050 | GALC | c.1616_1617del (p.Ile539AsnfsTer26) c.1547_1548del (p.Ile516AsnfsTer26) c.1538_1539del (p.Ile513AsnfsTer26) c.1448_1449del (p.Ile483AsnfsTer26) c.983_984del (p.Ile328AsnfsTer26) c.206+2121_206+2122del c.*1014_*1015del (n.*1014_*1015del) | dbSNP gnomAD v2 |
| 14 | g.87945607dup | CA2802492051 | GALC | c.1617dup (p.Thr540TyrfsTer26) c.1548dup (p.Thr517TyrfsTer26) c.1539dup (p.Thr514TyrfsTer26) c.1449dup (p.Thr484TyrfsTer26) c.984dup (p.Thr329TyrfsTer26) c.206+2122dup c.*1015dup (n.*1015dup) | |
| 14 | g.87945607A= | CA2153356801 | GALC | c.1616T= (p.Ile539=) c.1547T= (p.Ile516=) c.1538T= (p.Ile513=) c.1448T= (p.Ile483=) c.983T= (p.Ile328=) c.206+2121T= c.*1014T= (n.*1014T=) | |
| 14 | g.87945607A>C | CA390746062 | GALC | c.1616T>G (p.Ile539Ser) c.1547T>G (p.Ile516Ser) c.1538T>G (p.Ile513Ser) c.1448T>G (p.Ile483Ser) c.983T>G (p.Ile328Ser) c.206+2121T>G c.*1014T>G (n.*1014T>G) | |
| 14 | g.87945607A>G | CA390746064 | GALC | c.1616T>C (p.Ile539Thr) c.1547T>C (p.Ile516Thr) c.1538T>C (p.Ile513Thr) c.1448T>C (p.Ile483Thr) c.983T>C (p.Ile328Thr) c.206+2121T>C c.*1014T>C (n.*1014T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87945607A>T | CA390746063 | GALC | c.1616T>A (p.Ile539Asn) c.1547T>A (p.Ile516Asn) c.1538T>A (p.Ile513Asn) c.1448T>A (p.Ile483Asn) c.983T>A (p.Ile328Asn) c.206+2121T>A c.*1014T>A (n.*1014T>A) | |
| 14 | g.87945608T>A | CA390746065 | GALC | c.1615A>T (p.Ile539Phe) c.1546A>T (p.Ile516Phe) c.1537A>T (p.Ile513Phe) c.1447A>T (p.Ile483Phe) c.982A>T (p.Ile328Phe) c.206+2120A>T c.*1013A>T (n.*1013A>T) | |
| 14 | g.87945608T>C | CA390746066 | GALC | c.1615A>G (p.Ile539Val) c.1546A>G (p.Ile516Val) c.1537A>G (p.Ile513Val) c.1447A>G (p.Ile483Val) c.982A>G (p.Ile328Val) c.206+2120A>G c.*1013A>G (n.*1013A>G) | gnomAD v4 |
| 14 | g.87945608T>G | CA390746067 | GALC | c.1615A>C (p.Ile539Leu) c.1546A>C (p.Ile516Leu) c.1537A>C (p.Ile513Leu) c.1447A>C (p.Ile483Leu) c.982A>C (p.Ile328Leu) c.206+2120A>C c.*1013A>C (n.*1013A>C) | |
| 14 | g.87945608T= | CA2153356804 | GALC | c.1615A= (p.Ile539=) c.1546A= (p.Ile516=) c.1537A= (p.Ile513=) c.1447A= (p.Ile483=) c.982A= (p.Ile328=) c.206+2120A= c.*1013A= (n.*1013A=) | |
| 14 | g.87945609G>A | CA487355510 | GALC | c.1614C>T (p.Pro538=) c.1545C>T (p.Pro515=) c.1536C>T (p.Pro512=) c.1446C>T (p.Pro482=) c.981C>T (p.Pro327=) c.206+2119C>T c.*1012C>T (n.*1012C>T) | ClinVar gnomAD v4 |
| 14 | g.87945609G>C | CA487355511 | GALC | c.1614C>G (p.Pro538=) c.1545C>G (p.Pro515=) c.1536C>G (p.Pro512=) c.1446C>G (p.Pro482=) c.981C>G (p.Pro327=) c.206+2119C>G c.*1012C>G (n.*1012C>G) | |
| 14 | g.87945609G>T | CA487355512 | GALC | c.1614C>A (p.Pro538=) c.1545C>A (p.Pro515=) c.1536C>A (p.Pro512=) c.1446C>A (p.Pro482=) c.981C>A (p.Pro327=) c.206+2119C>A c.*1012C>A (n.*1012C>A) | |
| 14 | g.87945611dup | CA2153356807 | GALC | c.1614dup (p.Ile539HisfsTer27) c.1545dup (p.Ile516HisfsTer27) c.1536dup (p.Ile513HisfsTer27) c.1446dup (p.Ile483HisfsTer27) c.981dup (p.Ile328HisfsTer27) c.206+2119dup c.*1012dup (n.*1012dup) | dbSNP |
| 14 | g.87945609_87945615del | CA2802492052 | GALC | c.1608_1614del (p.Arg537LeufsTer14) c.1539_1545del (p.Arg514LeufsTer14) c.1530_1536del (p.Arg511LeufsTer14) c.1440_1446del (p.Arg481LeufsTer14) c.975_981del (p.Arg326LeufsTer14) c.206+2113_206+2119del c.*1006_*1012del (n.*1006_*1012del) | |
| 14 | g.87945610G>A | CA390746068 | GALC | c.1613C>T (p.Pro538Leu) c.1544C>T (p.Pro515Leu) c.1535C>T (p.Pro512Leu) c.1445C>T (p.Pro482Leu) c.980C>T (p.Pro327Leu) c.206+2118C>T c.*1011C>T (n.*1011C>T) | |
| 14 | g.87945610G>C | CA390746069 | GALC | c.1613C>G (p.Pro538Arg) c.1544C>G (p.Pro515Arg) c.1535C>G (p.Pro512Arg) c.1445C>G (p.Pro482Arg) c.980C>G (p.Pro327Arg) c.206+2118C>G c.*1011C>G (n.*1011C>G) | |
| 14 | g.87945610G>T | CA390746070 | GALC | c.1613C>A (p.Pro538His) c.1544C>A (p.Pro515His) c.1535C>A (p.Pro512His) c.1445C>A (p.Pro482His) c.980C>A (p.Pro327His) c.206+2118C>A c.*1011C>A (n.*1011C>A) | |
| 14 | g.87945610delinsCTGCTGAGT | CA2580088858 | GALC | c.1613delinsACTCAGCAG (p.Pro538HisfsTer18) c.1544delinsACTCAGCAG (p.Pro515HisfsTer18) c.1535delinsACTCAGCAG (p.Pro512HisfsTer18) c.1445delinsACTCAGCAG (p.Pro482HisfsTer18) c.980delinsACTCAGCAG (p.Pro327HisfsTer18) c.206+2118delinsACTCAGCAG c.*1011delinsACTCAGCAG (n.*1011delinsACTCAGCAG) | ClinVar |
| 14 | g.87945611G>A | CA390746071 | GALC | c.1612C>T (p.Pro538Ser) c.1543C>T (p.Pro515Ser) c.1534C>T (p.Pro512Ser) c.1444C>T (p.Pro482Ser) c.979C>T (p.Pro327Ser) c.206+2117C>T c.*1010C>T (n.*1010C>T) | |
| 14 | g.87945611G>C | CA390746072 | GALC | c.1612C>G (p.Pro538Ala) c.1543C>G (p.Pro515Ala) c.1534C>G (p.Pro512Ala) c.1444C>G (p.Pro482Ala) c.979C>G (p.Pro327Ala) c.206+2117C>G c.*1010C>G (n.*1010C>G) | |
| 14 | g.87945611G>T | CA390746073 | GALC | c.1612C>A (p.Pro538Thr) c.1543C>A (p.Pro515Thr) c.1534C>A (p.Pro512Thr) c.1444C>A (p.Pro482Thr) c.979C>A (p.Pro327Thr) c.206+2117C>A c.*1010C>A (n.*1010C>A) | gnomAD v4 |
| 14 | g.87945612T>A | CA390746074 | GALC | c.1611A>T (p.Arg537Ser) c.1542A>T (p.Arg514Ser) c.1533A>T (p.Arg511Ser) c.1443A>T (p.Arg481Ser) c.978A>T (p.Arg326Ser) c.206+2116A>T c.*1009A>T (n.*1009A>T) | |
| 14 | g.87945612T>C | CA487355513 | GALC | c.1611A>G (p.Arg537=) c.1542A>G (p.Arg514=) c.1533A>G (p.Arg511=) c.1443A>G (p.Arg481=) c.978A>G (p.Arg326=) c.206+2116A>G c.*1009A>G (n.*1009A>G) | gnomAD v4 |
| 14 | g.87945612T>G | CA390746075 | GALC | c.1611A>C (p.Arg537Ser) c.1542A>C (p.Arg514Ser) c.1533A>C (p.Arg511Ser) c.1443A>C (p.Arg481Ser) c.978A>C (p.Arg326Ser) c.206+2116A>C c.*1009A>C (n.*1009A>C) | dbSNP |
| 14 | g.87945612T= | CA2153356812 | GALC | c.1611A= (p.Arg537=) c.1542A= (p.Arg514=) c.1533A= (p.Arg511=) c.1443A= (p.Arg481=) c.978A= (p.Arg326=) c.206+2116A= c.*1009A= (n.*1009A=) | |
| 14 | g.87945613C>A | CA390746078 | GALC | c.1610G>T (p.Arg537Ile) c.1541G>T (p.Arg514Ile) c.1532G>T (p.Arg511Ile) c.1442G>T (p.Arg481Ile) c.977G>T (p.Arg326Ile) c.206+2115G>T c.*1008G>T (n.*1008G>T) | |
| 14 | g.87945613C>G | CA390746077 | GALC | c.1610G>C (p.Arg537Thr) c.1541G>C (p.Arg514Thr) c.1532G>C (p.Arg511Thr) c.1442G>C (p.Arg481Thr) c.977G>C (p.Arg326Thr) c.206+2115G>C c.*1008G>C (n.*1008G>C) | gnomAD v4 |
| 14 | g.87945613C>T | CA390746076 | GALC | c.1610G>A (p.Arg537Lys) c.1541G>A (p.Arg514Lys) c.1532G>A (p.Arg511Lys) c.1442G>A (p.Arg481Lys) c.977G>A (p.Arg326Lys) c.206+2115G>A c.*1008G>A (n.*1008G>A) | COSMIC COSMIC |
| 14 | g.87945614T>A | CA390746079 | GALC | c.1609A>T (p.Arg537Ter) c.1540A>T (p.Arg514Ter) c.1531A>T (p.Arg511Ter) c.1441A>T (p.Arg481Ter) c.976A>T (p.Arg326Ter) c.206+2114A>T c.*1007A>T (n.*1007A>T) | |
| 14 | g.87945614T>C | CA390746080 | GALC | c.1609A>G (p.Arg537Gly) c.1540A>G (p.Arg514Gly) c.1531A>G (p.Arg511Gly) c.1441A>G (p.Arg481Gly) c.976A>G (p.Arg326Gly) c.206+2114A>G c.*1007A>G (n.*1007A>G) | |
| 14 | g.87945614T>G | CA487355515 | GALC | c.1609A>C (p.Arg537=) c.1540A>C (p.Arg514=) c.1531A>C (p.Arg511=) c.1441A>C (p.Arg481=) c.976A>C (p.Arg326=) c.206+2114A>C c.*1007A>C (n.*1007A>C) | |
| 14 | g.87945615C>A | CA390746081 | GALC | c.1608G>T (p.Gln536His) c.1539G>T (p.Gln513His) c.1530G>T (p.Gln510His) c.1440G>T (p.Gln480His) c.975G>T (p.Gln325His) c.206+2113G>T c.*1006G>T (n.*1006G>T) | |
| 14 | g.87945615C>G | CA390746082 | GALC | c.1608G>C (p.Gln536His) c.1539G>C (p.Gln513His) c.1530G>C (p.Gln510His) c.1440G>C (p.Gln480His) c.975G>C (p.Gln325His) c.206+2113G>C c.*1006G>C (n.*1006G>C) | |
| 14 | g.87945615C>T | CA487355516 | GALC | c.1608G>A (p.Gln536=) c.1539G>A (p.Gln513=) c.1530G>A (p.Gln510=) c.1440G>A (p.Gln480=) c.975G>A (p.Gln325=) c.206+2113G>A c.*1006G>A (n.*1006G>A) | ClinVar |
| 14 | g.87945616T>A | CA390746083 | GALC | c.1607A>T (p.Gln536Leu) c.1538A>T (p.Gln513Leu) c.1529A>T (p.Gln510Leu) c.1439A>T (p.Gln480Leu) c.974A>T (p.Gln325Leu) c.206+2112A>T c.*1005A>T (n.*1005A>T) | |
| 14 | g.87945616T>C | CA390746084 | GALC | c.1607A>G (p.Gln536Arg) c.1538A>G (p.Gln513Arg) c.1529A>G (p.Gln510Arg) c.1439A>G (p.Gln480Arg) c.974A>G (p.Gln325Arg) c.206+2112A>G c.*1005A>G (n.*1005A>G) | |
| 14 | g.87945616T>G | CA390746085 | GALC | c.1607A>C (p.Gln536Pro) c.1538A>C (p.Gln513Pro) c.1529A>C (p.Gln510Pro) c.1439A>C (p.Gln480Pro) c.974A>C (p.Gln325Pro) c.206+2112A>C c.*1005A>C (n.*1005A>C) | |
| 14 | g.87945617G>A | CA390746086 | GALC | c.1606C>T (p.Gln536Ter) c.1537C>T (p.Gln513Ter) c.1528C>T (p.Gln510Ter) c.1438C>T (p.Gln480Ter) c.973C>T (p.Gln325Ter) c.206+2111C>T c.*1004C>T (n.*1004C>T) | COSMIC COSMIC |
| 14 | g.87945617G>C | CA390746087 | GALC | c.1606C>G (p.Gln536Glu) c.1537C>G (p.Gln513Glu) c.1528C>G (p.Gln510Glu) c.1438C>G (p.Gln480Glu) c.973C>G (p.Gln325Glu) c.206+2111C>G c.*1004C>G (n.*1004C>G) | |
| 14 | g.87945617G>T | CA390746088 | GALC | c.1606C>A (p.Gln536Lys) c.1537C>A (p.Gln513Lys) c.1528C>A (p.Gln510Lys) c.1438C>A (p.Gln480Lys) c.973C>A (p.Gln325Lys) c.206+2111C>A c.*1004C>A (n.*1004C>A) | gnomAD v4 |
| 14 | g.87945618G>A | CA487355517 | GALC | c.1605C>T (p.Asn535=) c.1536C>T (p.Asn512=) c.1527C>T (p.Asn509=) c.1437C>T (p.Asn479=) c.972C>T (p.Asn324=) c.206+2110C>T c.*1003C>T (n.*1003C>T) | |
| 14 | g.87945618G>C | CA390746089 | GALC | c.1605C>G (p.Asn535Lys) c.1536C>G (p.Asn512Lys) c.1527C>G (p.Asn509Lys) c.1437C>G (p.Asn479Lys) c.972C>G (p.Asn324Lys) c.206+2110C>G c.*1003C>G (n.*1003C>G) | |
| 14 | g.87945618G>T | CA390746090 | GALC | c.1605C>A (p.Asn535Lys) c.1536C>A (p.Asn512Lys) c.1527C>A (p.Asn509Lys) c.1437C>A (p.Asn479Lys) c.972C>A (p.Asn324Lys) c.206+2110C>A c.*1003C>A (n.*1003C>A) | gnomAD v4 |
| 14 | g.87945619T>A | CA7296973 | GALC | c.1604A>T (p.Asn535Ile) c.1535A>T (p.Asn512Ile) c.1526A>T (p.Asn509Ile) c.1436A>T (p.Asn479Ile) c.971A>T (p.Asn324Ile) c.206+2109A>T c.*1002A>T (n.*1002A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945619T>C | CA390746092 | GALC | c.1604A>G (p.Asn535Ser) c.1535A>G (p.Asn512Ser) c.1526A>G (p.Asn509Ser) c.1436A>G (p.Asn479Ser) c.971A>G (p.Asn324Ser) c.206+2109A>G c.*1002A>G (n.*1002A>G) | |
| 14 | g.87945619T>G | CA390746091 | GALC | c.1604A>C (p.Asn535Thr) c.1535A>C (p.Asn512Thr) c.1526A>C (p.Asn509Thr) c.1436A>C (p.Asn479Thr) c.971A>C (p.Asn324Thr) c.206+2109A>C c.*1002A>C (n.*1002A>C) | |
| 14 | g.87945619T= | CA2153356817 | GALC | c.1604A= (p.Asn535=) c.1535A= (p.Asn512=) c.1526A= (p.Asn509=) c.1436A= (p.Asn479=) c.971A= (p.Asn324=) c.206+2109A= c.*1002A= (n.*1002A=) | |
| 14 | g.87945620T>A | CA390746093 | GALC | c.1603A>T (p.Asn535Tyr) c.1534A>T (p.Asn512Tyr) c.1525A>T (p.Asn509Tyr) c.1435A>T (p.Asn479Tyr) c.970A>T (p.Asn324Tyr) c.206+2108A>T c.*1001A>T (n.*1001A>T) | |
| 14 | g.87945620T>C | CA390746095 | GALC | c.1603A>G (p.Asn535Asp) c.1534A>G (p.Asn512Asp) c.1525A>G (p.Asn509Asp) c.1435A>G (p.Asn479Asp) c.970A>G (p.Asn324Asp) c.206+2108A>G c.*1001A>G (n.*1001A>G) | |
| 14 | g.87945620T>G | CA390746094 | GALC | c.1603A>C (p.Asn535His) c.1534A>C (p.Asn512His) c.1525A>C (p.Asn509His) c.1435A>C (p.Asn479His) c.970A>C (p.Asn324His) c.206+2108A>C c.*1001A>C (n.*1001A>C) | gnomAD v4 |
| 14 | g.87945621G>A | CA487355520 | GALC | c.1602C>T (p.Leu534=) c.1533C>T (p.Leu511=) c.1524C>T (p.Leu508=) c.1434C>T (p.Leu478=) c.969C>T (p.Leu323=) c.206+2107C>T c.*1000C>T (n.*1000C>T) | gnomAD v4 |
| 14 | g.87945621G>C | CA487355519 | GALC | c.1602C>G (p.Leu534=) c.1533C>G (p.Leu511=) c.1524C>G (p.Leu508=) c.1434C>G (p.Leu478=) c.969C>G (p.Leu323=) c.206+2107C>G c.*1000C>G (n.*1000C>G) | dbSNP |
| 14 | g.87945621G= | CA2153356819 | GALC | c.1602C= (p.Leu534=) c.1533C= (p.Leu511=) c.1524C= (p.Leu508=) c.1434C= (p.Leu478=) c.969C= (p.Leu323=) c.206+2107C= c.*1000C= (n.*1000C=) | |
| 14 | g.87945621G>T | CA487355518 | GALC | c.1602C>A (p.Leu534=) c.1533C>A (p.Leu511=) c.1524C>A (p.Leu508=) c.1434C>A (p.Leu478=) c.969C>A (p.Leu323=) c.206+2107C>A c.*1000C>A (n.*1000C>A) | |
| 14 | g.87945622A>C | CA390746096 | GALC | c.1601T>G (p.Leu534Arg) c.1532T>G (p.Leu511Arg) c.1523T>G (p.Leu508Arg) c.1433T>G (p.Leu478Arg) c.968T>G (p.Leu323Arg) c.206+2106T>G c.*999T>G (n.*999T>G) | |
| 14 | g.87945622A>G | CA390746097 | GALC | c.1601T>C (p.Leu534Pro) c.1532T>C (p.Leu511Pro) c.1523T>C (p.Leu508Pro) c.1433T>C (p.Leu478Pro) c.968T>C (p.Leu323Pro) c.206+2106T>C c.*999T>C (n.*999T>C) | |
| 14 | g.87945622A>T | CA390746098 | GALC | c.1601T>A (p.Leu534His) c.1532T>A (p.Leu511His) c.1523T>A (p.Leu508His) c.1433T>A (p.Leu478His) c.968T>A (p.Leu323His) c.206+2106T>A c.*999T>A (n.*999T>A) | |
| 14 | g.87945623G>A | CA390746099 | GALC | c.1600C>T (p.Leu534Phe) c.1531C>T (p.Leu511Phe) c.1522C>T (p.Leu508Phe) c.1432C>T (p.Leu478Phe) c.967C>T (p.Leu323Phe) c.206+2105C>T c.*998C>T (n.*998C>T) | |
| 14 | g.87945623G>C | CA390746100 | GALC | c.1600C>G (p.Leu534Val) c.1531C>G (p.Leu511Val) c.1522C>G (p.Leu508Val) c.1432C>G (p.Leu478Val) c.967C>G (p.Leu323Val) c.206+2105C>G c.*998C>G (n.*998C>G) | |
| 14 | g.87945623G>T | CA390746101 | GALC | c.1600C>A (p.Leu534Ile) c.1531C>A (p.Leu511Ile) c.1522C>A (p.Leu508Ile) c.1432C>A (p.Leu478Ile) c.967C>A (p.Leu323Ile) c.206+2105C>A c.*998C>A (n.*998C>A) | gnomAD v4 |
| 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) |