| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71551058_71551076del | CA2586969584 | DYSF | c.1540_1558del (p.Phe514ProfsTer?) c.1594_1612del (p.Phe532ProfsTer?) c.1543_1561del (p.Phe515ProfsTer?) c.1591_1609del (p.Phe531ProfsTer?) c.1636_1654del (p.Phe546ProfsTer?) c.1501_1519del (p.Phe501ProfsTer?) c.1633_1651del (p.Phe545ProfsTer?) c.1498_1516del (p.Phe500ProfsTer?) n.1794_1812del | |
| 2 | g.71551073G>A | CA253913 | DYSF | c.1555G>A (p.Gly519Arg) c.1609G>A (p.Gly537Arg) c.1558G>A (p.Gly520Arg) c.1606G>A (p.Gly536Arg) c.1651G>A (p.Gly551Arg) c.1516G>A (p.Gly506Arg) c.1648G>A (p.Gly550Arg) c.1513G>A (p.Gly505Arg) n.1809G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.71551073G>C | CA347217356 | DYSF | c.1555G>C (p.Gly519Arg) c.1609G>C (p.Gly537Arg) c.1558G>C (p.Gly520Arg) c.1606G>C (p.Gly536Arg) c.1651G>C (p.Gly551Arg) c.1516G>C (p.Gly506Arg) c.1648G>C (p.Gly550Arg) c.1513G>C (p.Gly505Arg) n.1809G>C | |
| 2 | g.71551073G= | CA1260094718 | DYSF | c.1555G= (p.Gly519=) c.1609G= (p.Gly537=) c.1558G= (p.Gly520=) c.1606G= (p.Gly536=) c.1651G= (p.Gly551=) c.1516G= (p.Gly506=) c.1648G= (p.Gly550=) c.1513G= (p.Gly505=) n.1809G= | |
| 2 | g.71551073G>T | CA347217357 | DYSF | c.1555G>T (p.Gly519Trp) c.1609G>T (p.Gly537Trp) c.1558G>T (p.Gly520Trp) c.1606G>T (p.Gly536Trp) c.1651G>T (p.Gly551Trp) c.1516G>T (p.Gly506Trp) c.1648G>T (p.Gly550Trp) c.1513G>T (p.Gly505Trp) n.1809G>T | ClinVar |
| 2 | g.71551074G>A | CA347217358 | DYSF | c.1556G>A (p.Gly519Glu) c.1610G>A (p.Gly537Glu) c.1559G>A (p.Gly520Glu) c.1607G>A (p.Gly536Glu) c.1652G>A (p.Gly551Glu) c.1517G>A (p.Gly506Glu) c.1649G>A (p.Gly550Glu) c.1514G>A (p.Gly505Glu) n.1810G>A | |
| 2 | g.71551074G>C | CA347217360 | DYSF | c.1556G>C (p.Gly519Ala) c.1610G>C (p.Gly537Ala) c.1559G>C (p.Gly520Ala) c.1607G>C (p.Gly536Ala) c.1652G>C (p.Gly551Ala) c.1517G>C (p.Gly506Ala) c.1649G>C (p.Gly550Ala) c.1514G>C (p.Gly505Ala) n.1810G>C | |
| 2 | g.71551074G>T | CA347217359 | DYSF | c.1556G>T (p.Gly519Val) c.1610G>T (p.Gly537Val) c.1559G>T (p.Gly520Val) c.1607G>T (p.Gly536Val) c.1652G>T (p.Gly551Val) c.1517G>T (p.Gly506Val) c.1649G>T (p.Gly550Val) c.1514G>T (p.Gly505Val) n.1810G>T | |
| 2 | g.71551075G>A | CA426701135 | DYSF | c.1557G>A (p.Gly519=) c.1611G>A (p.Gly537=) c.1560G>A (p.Gly520=) c.1608G>A (p.Gly536=) c.1653G>A (p.Gly551=) c.1518G>A (p.Gly506=) c.1650G>A (p.Gly550=) c.1515G>A (p.Gly505=) n.1811G>A | |
| 2 | g.71551075G>C | CA1705872 | DYSF | c.1557G>C (p.Gly519=) c.1611G>C (p.Gly537=) c.1560G>C (p.Gly520=) c.1608G>C (p.Gly536=) c.1653G>C (p.Gly551=) c.1518G>C (p.Gly506=) c.1650G>C (p.Gly550=) c.1515G>C (p.Gly505=) n.1811G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.71551075G= | CA1260094719 | DYSF | c.1557G= (p.Gly519=) c.1611G= (p.Gly537=) c.1560G= (p.Gly520=) c.1608G= (p.Gly536=) c.1653G= (p.Gly551=) c.1518G= (p.Gly506=) c.1650G= (p.Gly550=) c.1515G= (p.Gly505=) n.1811G= | |
| 2 | g.71551075G>T | CA426701136 | DYSF | c.1557G>T (p.Gly519=) c.1611G>T (p.Gly537=) c.1560G>T (p.Gly520=) c.1608G>T (p.Gly536=) c.1653G>T (p.Gly551=) c.1518G>T (p.Gly506=) c.1650G>T (p.Gly550=) c.1515G>T (p.Gly505=) n.1811G>T | |
| 2 | g.71551076C>A | CA347217361 | DYSF | c.1558C>A (p.Pro520Thr) c.1612C>A (p.Pro538Thr) c.1561C>A (p.Pro521Thr) c.1609C>A (p.Pro537Thr) c.1654C>A (p.Pro552Thr) c.1519C>A (p.Pro507Thr) c.1651C>A (p.Pro551Thr) c.1516C>A (p.Pro506Thr) n.1812C>A | |
| 2 | g.71551076C= | CA1260094720 | DYSF | c.1558C= (p.Pro520=) c.1612C= (p.Pro538=) c.1561C= (p.Pro521=) c.1609C= (p.Pro537=) c.1654C= (p.Pro552=) c.1519C= (p.Pro507=) c.1651C= (p.Pro551=) c.1516C= (p.Pro506=) n.1812C= | |
| 2 | g.71551076C>G | CA347217362 | DYSF | c.1558C>G (p.Pro520Ala) c.1612C>G (p.Pro538Ala) c.1561C>G (p.Pro521Ala) c.1609C>G (p.Pro537Ala) c.1654C>G (p.Pro552Ala) c.1519C>G (p.Pro507Ala) c.1651C>G (p.Pro551Ala) c.1516C>G (p.Pro506Ala) n.1812C>G | dbSNP |
| 2 | g.71551076C>T | CA347217363 | DYSF | c.1558C>T (p.Pro520Ser) c.1612C>T (p.Pro538Ser) c.1561C>T (p.Pro521Ser) c.1609C>T (p.Pro537Ser) c.1654C>T (p.Pro552Ser) c.1519C>T (p.Pro507Ser) c.1651C>T (p.Pro551Ser) c.1516C>T (p.Pro506Ser) n.1812C>T | gnomAD v4 COSMIC COSMIC |
| 2 | g.71551077C>A | CA347217364 | DYSF | c.1559C>A (p.Pro520His) c.1613C>A (p.Pro538His) c.1562C>A (p.Pro521His) c.1610C>A (p.Pro537His) c.1655C>A (p.Pro552His) c.1520C>A (p.Pro507His) c.1652C>A (p.Pro551His) c.1517C>A (p.Pro506His) n.1813C>A | |
| 2 | g.71551077C>G | CA347217366 | DYSF | c.1559C>G (p.Pro520Arg) c.1613C>G (p.Pro538Arg) c.1562C>G (p.Pro521Arg) c.1610C>G (p.Pro537Arg) c.1655C>G (p.Pro552Arg) c.1520C>G (p.Pro507Arg) c.1652C>G (p.Pro551Arg) c.1517C>G (p.Pro506Arg) n.1813C>G | |
| 2 | g.71551077C>T | CA347217365 | DYSF | c.1559C>T (p.Pro520Leu) c.1613C>T (p.Pro538Leu) c.1562C>T (p.Pro521Leu) c.1610C>T (p.Pro537Leu) c.1655C>T (p.Pro552Leu) c.1520C>T (p.Pro507Leu) c.1652C>T (p.Pro551Leu) c.1517C>T (p.Pro506Leu) n.1813C>T | |
| 2 | g.71551078C>A | CA426701137 | DYSF | c.1560C>A (p.Pro520=) c.1614C>A (p.Pro538=) c.1563C>A (p.Pro521=) c.1611C>A (p.Pro537=) c.1656C>A (p.Pro552=) c.1521C>A (p.Pro507=) c.1653C>A (p.Pro551=) c.1518C>A (p.Pro506=) n.1814C>A | |
| 2 | g.71551078C>G | CA426701138 | DYSF | c.1560C>G (p.Pro520=) c.1614C>G (p.Pro538=) c.1563C>G (p.Pro521=) c.1611C>G (p.Pro537=) c.1656C>G (p.Pro552=) c.1521C>G (p.Pro507=) c.1653C>G (p.Pro551=) c.1518C>G (p.Pro506=) n.1814C>G | |
| 2 | g.71551078C>T | CA426701139 | DYSF | c.1560C>T (p.Pro520=) c.1614C>T (p.Pro538=) c.1563C>T (p.Pro521=) c.1611C>T (p.Pro537=) c.1656C>T (p.Pro552=) c.1521C>T (p.Pro507=) c.1653C>T (p.Pro551=) c.1518C>T (p.Pro506=) n.1814C>T | |
| 2 | g.71551079T>A | CA347217367 | DYSF | c.1561T>A (p.Cys521Ser) c.1615T>A (p.Cys539Ser) c.1564T>A (p.Cys522Ser) c.1612T>A (p.Cys538Ser) c.1657T>A (p.Cys553Ser) c.1522T>A (p.Cys508Ser) c.1654T>A (p.Cys552Ser) c.1519T>A (p.Cys507Ser) n.1815T>A | |
| 2 | g.71551079T>C | CA347217368 | DYSF | c.1561T>C (p.Cys521Arg) c.1615T>C (p.Cys539Arg) c.1564T>C (p.Cys522Arg) c.1612T>C (p.Cys538Arg) c.1657T>C (p.Cys553Arg) c.1522T>C (p.Cys508Arg) c.1654T>C (p.Cys552Arg) c.1519T>C (p.Cys507Arg) n.1815T>C | ClinVar dbSNP gnomAD v4 |
| 2 | g.71551079T>G | CA347217369 | DYSF | c.1561T>G (p.Cys521Gly) c.1615T>G (p.Cys539Gly) c.1564T>G (p.Cys522Gly) c.1612T>G (p.Cys538Gly) c.1657T>G (p.Cys553Gly) c.1522T>G (p.Cys508Gly) c.1654T>G (p.Cys552Gly) c.1519T>G (p.Cys507Gly) n.1815T>G | dbSNP gnomAD v4 |
| 2 | g.71551079T= | CA1260094721 | DYSF | c.1561T= (p.Cys521=) c.1615T= (p.Cys539=) c.1564T= (p.Cys522=) c.1612T= (p.Cys538=) c.1657T= (p.Cys553=) c.1522T= (p.Cys508=) c.1654T= (p.Cys552=) c.1519T= (p.Cys507=) n.1815T= | |
| 2 | g.71551080G>A | CA347217370 | DYSF | c.1562G>A (p.Cys521Tyr) c.1616G>A (p.Cys539Tyr) c.1565G>A (p.Cys522Tyr) c.1613G>A (p.Cys538Tyr) c.1658G>A (p.Cys553Tyr) c.1523G>A (p.Cys508Tyr) c.1655G>A (p.Cys552Tyr) c.1520G>A (p.Cys507Tyr) n.1816G>A | |
| 2 | g.71551080G>C | CA347217371 | DYSF | c.1562G>C (p.Cys521Ser) c.1616G>C (p.Cys539Ser) c.1565G>C (p.Cys522Ser) c.1613G>C (p.Cys538Ser) c.1658G>C (p.Cys553Ser) c.1523G>C (p.Cys508Ser) c.1655G>C (p.Cys552Ser) c.1520G>C (p.Cys507Ser) n.1816G>C | |
| 2 | g.71551080G>T | CA347217372 | DYSF | c.1562G>T (p.Cys521Phe) c.1616G>T (p.Cys539Phe) c.1565G>T (p.Cys522Phe) c.1613G>T (p.Cys538Phe) c.1658G>T (p.Cys553Phe) c.1523G>T (p.Cys508Phe) c.1655G>T (p.Cys552Phe) c.1520G>T (p.Cys507Phe) n.1816G>T | |
| 2 | g.71551081C>A | CA347217373 | DYSF | c.1563C>A (p.Cys521Ter) c.1617C>A (p.Cys539Ter) c.1566C>A (p.Cys522Ter) c.1614C>A (p.Cys538Ter) c.1659C>A (p.Cys553Ter) c.1524C>A (p.Cys508Ter) c.1656C>A (p.Cys552Ter) c.1521C>A (p.Cys507Ter) n.1817C>A | ClinVar dbSNP |
| 2 | g.71551081C= | CA1260094722 | DYSF | c.1563C= (p.Cys521=) c.1617C= (p.Cys539=) c.1566C= (p.Cys522=) c.1614C= (p.Cys538=) c.1659C= (p.Cys553=) c.1524C= (p.Cys508=) c.1656C= (p.Cys552=) c.1521C= (p.Cys507=) n.1817C= | |
| 2 | g.71551081C>G | CA347217374 | DYSF | c.1563C>G (p.Cys521Trp) c.1617C>G (p.Cys539Trp) c.1566C>G (p.Cys522Trp) c.1614C>G (p.Cys538Trp) c.1659C>G (p.Cys553Trp) c.1524C>G (p.Cys508Trp) c.1656C>G (p.Cys552Trp) c.1521C>G (p.Cys507Trp) n.1817C>G | |
| 2 | g.71551081C>T | CA426701140 | DYSF | c.1563C>T (p.Cys521=) c.1617C>T (p.Cys539=) c.1566C>T (p.Cys522=) c.1614C>T (p.Cys538=) c.1659C>T (p.Cys553=) c.1524C>T (p.Cys508=) c.1656C>T (p.Cys552=) c.1521C>T (p.Cys507=) n.1817C>T | |
| 2 | g.71551082T>A | CA347217375 | DYSF | c.1564T>A (p.Tyr522Asn) c.1618T>A (p.Tyr540Asn) c.1567T>A (p.Tyr523Asn) c.1615T>A (p.Tyr539Asn) c.1660T>A (p.Tyr554Asn) c.1525T>A (p.Tyr509Asn) c.1657T>A (p.Tyr553Asn) c.1522T>A (p.Tyr508Asn) n.1818T>A | |
| 2 | g.71551082T>C | CA1705873 | DYSF | c.1564T>C (p.Tyr522His) c.1618T>C (p.Tyr540His) c.1567T>C (p.Tyr523His) c.1615T>C (p.Tyr539His) c.1660T>C (p.Tyr554His) c.1525T>C (p.Tyr509His) c.1657T>C (p.Tyr553His) c.1522T>C (p.Tyr508His) n.1818T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71551082T>G | CA347217376 | DYSF | c.1564T>G (p.Tyr522Asp) c.1618T>G (p.Tyr540Asp) c.1567T>G (p.Tyr523Asp) c.1615T>G (p.Tyr539Asp) c.1660T>G (p.Tyr554Asp) c.1525T>G (p.Tyr509Asp) c.1657T>G (p.Tyr553Asp) c.1522T>G (p.Tyr508Asp) n.1818T>G | |
| 2 | g.71551082T= | CA1260094723 | DYSF | c.1564T= (p.Tyr522=) c.1618T= (p.Tyr540=) c.1567T= (p.Tyr523=) c.1615T= (p.Tyr539=) c.1660T= (p.Tyr554=) c.1525T= (p.Tyr509=) c.1657T= (p.Tyr553=) c.1522T= (p.Tyr508=) n.1818T= | |
| 2 | g.71551083A= | CA1260094724 | DYSF | c.1565A= (p.Tyr522=) c.1619A= (p.Tyr540=) c.1568A= (p.Tyr523=) c.1616A= (p.Tyr539=) c.1661A= (p.Tyr554=) c.1526A= (p.Tyr509=) c.1658A= (p.Tyr553=) c.1523A= (p.Tyr508=) n.1819A= | |
| 2 | g.71551083A>C | CA347217377 | DYSF | c.1565A>C (p.Tyr522Ser) c.1619A>C (p.Tyr540Ser) c.1568A>C (p.Tyr523Ser) c.1616A>C (p.Tyr539Ser) c.1661A>C (p.Tyr554Ser) c.1526A>C (p.Tyr509Ser) c.1658A>C (p.Tyr553Ser) c.1523A>C (p.Tyr508Ser) n.1819A>C | |
| 2 | g.71551083A>G | CA1705874 | DYSF | c.1565A>G (p.Tyr522Cys) c.1619A>G (p.Tyr540Cys) c.1568A>G (p.Tyr523Cys) c.1616A>G (p.Tyr539Cys) c.1661A>G (p.Tyr554Cys) c.1526A>G (p.Tyr509Cys) c.1658A>G (p.Tyr553Cys) c.1523A>G (p.Tyr508Cys) n.1819A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.71551083A>T | CA347217378 | DYSF | c.1565A>T (p.Tyr522Phe) c.1619A>T (p.Tyr540Phe) c.1568A>T (p.Tyr523Phe) c.1616A>T (p.Tyr539Phe) c.1661A>T (p.Tyr554Phe) c.1526A>T (p.Tyr509Phe) c.1658A>T (p.Tyr553Phe) c.1523A>T (p.Tyr508Phe) n.1819A>T | |
| 2 | g.71551084C>A | CA347217379 | DYSF | c.1566C>A (p.Tyr522Ter) c.1620C>A (p.Tyr540Ter) c.1569C>A (p.Tyr523Ter) c.1617C>A (p.Tyr539Ter) c.1662C>A (p.Tyr554Ter) c.1527C>A (p.Tyr509Ter) c.1659C>A (p.Tyr553Ter) c.1524C>A (p.Tyr508Ter) n.1820C>A | |
| 2 | g.71551084C= | CA1260094725 | DYSF | c.1566C= (p.Tyr522=) c.1620C= (p.Tyr540=) c.1569C= (p.Tyr523=) c.1617C= (p.Tyr539=) c.1662C= (p.Tyr554=) c.1527C= (p.Tyr509=) c.1659C= (p.Tyr553=) c.1524C= (p.Tyr508=) n.1820C= | |
| 2 | g.71551084C>G | CA347217380 | DYSF | c.1566C>G (p.Tyr522Ter) c.1620C>G (p.Tyr540Ter) c.1569C>G (p.Tyr523Ter) c.1617C>G (p.Tyr539Ter) c.1662C>G (p.Tyr554Ter) c.1527C>G (p.Tyr509Ter) c.1659C>G (p.Tyr553Ter) c.1524C>G (p.Tyr508Ter) n.1820C>G | dbSNP gnomAD v4 COSMIC COSMIC |
| 2 | g.71551084C>T | CA426701141 | DYSF | c.1566C>T (p.Tyr522=) c.1620C>T (p.Tyr540=) c.1569C>T (p.Tyr523=) c.1617C>T (p.Tyr539=) c.1662C>T (p.Tyr554=) c.1527C>T (p.Tyr509=) c.1659C>T (p.Tyr553=) c.1524C>T (p.Tyr508=) n.1820C>T | gnomAD v4 |
| 2 | g.71551085A= | CA1260094726 | DYSF | c.1567A= (p.Ile523=) c.1621A= (p.Ile541=) c.1570A= (p.Ile524=) c.1618A= (p.Ile540=) c.1663A= (p.Ile555=) c.1528A= (p.Ile510=) c.1660A= (p.Ile554=) c.1525A= (p.Ile509=) n.1821A= | |
| 2 | g.71551085A>C | CA347217381 | DYSF | c.1567A>C (p.Ile523Leu) c.1621A>C (p.Ile541Leu) c.1570A>C (p.Ile524Leu) c.1618A>C (p.Ile540Leu) c.1663A>C (p.Ile555Leu) c.1528A>C (p.Ile510Leu) c.1660A>C (p.Ile554Leu) c.1525A>C (p.Ile509Leu) n.1821A>C | gnomAD v4 |
| 2 | g.71551085A>G | CA347217382 | DYSF | c.1567A>G (p.Ile523Val) c.1621A>G (p.Ile541Val) c.1570A>G (p.Ile524Val) c.1618A>G (p.Ile540Val) c.1663A>G (p.Ile555Val) c.1528A>G (p.Ile510Val) c.1660A>G (p.Ile554Val) c.1525A>G (p.Ile509Val) n.1821A>G | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.71551085A>T | CA347217383 | DYSF | c.1567A>T (p.Ile523Phe) c.1621A>T (p.Ile541Phe) c.1570A>T (p.Ile524Phe) c.1618A>T (p.Ile540Phe) c.1663A>T (p.Ile555Phe) c.1528A>T (p.Ile510Phe) c.1660A>T (p.Ile554Phe) c.1525A>T (p.Ile509Phe) n.1821A>T | |
| 2 | g.71551086T>A | CA347217384 | DYSF | c.1568T>A (p.Ile523Asn) c.1622T>A (p.Ile541Asn) c.1571T>A (p.Ile524Asn) c.1619T>A (p.Ile540Asn) c.1664T>A (p.Ile555Asn) c.1529T>A (p.Ile510Asn) c.1661T>A (p.Ile554Asn) c.1526T>A (p.Ile509Asn) n.1822T>A |