Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.71551052C>A | CA347217313 | DYSF | c.1534C>A (p.Leu512Met) c.1588C>A (p.Leu530Met) c.1537C>A (p.Leu513Met) c.1585C>A (p.Leu529Met) c.1630C>A (p.Leu544Met) c.1495C>A (p.Leu499Met) c.1627C>A (p.Leu543Met) c.1492C>A (p.Leu498Met) n.1788C>A | gnomAD v4 COSMIC COSMIC |
2 | g.71551052C= | CA1260094708 | DYSF | c.1534C= (p.Leu512=) c.1588C= (p.Leu530=) c.1537C= (p.Leu513=) c.1585C= (p.Leu529=) c.1630C= (p.Leu544=) c.1495C= (p.Leu499=) c.1627C= (p.Leu543=) c.1492C= (p.Leu498=) n.1788C= | |
2 | g.71551052C>G | CA347217314 | DYSF | c.1534C>G (p.Leu512Val) c.1588C>G (p.Leu530Val) c.1537C>G (p.Leu513Val) c.1585C>G (p.Leu529Val) c.1630C>G (p.Leu544Val) c.1495C>G (p.Leu499Val) c.1627C>G (p.Leu543Val) c.1492C>G (p.Leu498Val) n.1788C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71551052C>T | CA426701119 | DYSF | c.1534C>T (p.Leu512=) c.1588C>T (p.Leu530=) c.1537C>T (p.Leu513=) c.1585C>T (p.Leu529=) c.1630C>T (p.Leu544=) c.1495C>T (p.Leu499=) c.1627C>T (p.Leu543=) c.1492C>T (p.Leu498=) n.1788C>T | |
2 | g.71551053T>A | CA347217315 | DYSF | c.1535T>A (p.Leu512Gln) c.1589T>A (p.Leu530Gln) c.1538T>A (p.Leu513Gln) c.1586T>A (p.Leu529Gln) c.1631T>A (p.Leu544Gln) c.1496T>A (p.Leu499Gln) c.1628T>A (p.Leu543Gln) c.1493T>A (p.Leu498Gln) n.1789T>A | |
2 | g.71551053T>C | CA347217316 | DYSF | c.1535T>C (p.Leu512Pro) c.1589T>C (p.Leu530Pro) c.1538T>C (p.Leu513Pro) c.1586T>C (p.Leu529Pro) c.1631T>C (p.Leu544Pro) c.1496T>C (p.Leu499Pro) c.1628T>C (p.Leu543Pro) c.1493T>C (p.Leu498Pro) n.1789T>C | |
2 | g.71551053T>G | CA347217317 | DYSF | c.1535T>G (p.Leu512Arg) c.1589T>G (p.Leu530Arg) c.1538T>G (p.Leu513Arg) c.1586T>G (p.Leu529Arg) c.1631T>G (p.Leu544Arg) c.1496T>G (p.Leu499Arg) c.1628T>G (p.Leu543Arg) c.1493T>G (p.Leu498Arg) n.1789T>G | |
2 | g.71551053_71551056dup | CA913190077 | DYSF | c.1535_1538dup (p.Phe514GlyfsTer?) c.1589_1592dup (p.Phe532GlyfsTer?) c.1538_1541dup (p.Phe515GlyfsTer?) c.1586_1589dup (p.Phe531GlyfsTer?) c.1631_1634dup (p.Phe546GlyfsTer?) c.1496_1499dup (p.Phe501GlyfsTer?) c.1628_1631dup (p.Phe545GlyfsTer?) c.1493_1496dup (p.Phe500GlyfsTer?) n.1789_1792dup | ClinVar dbSNP |
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.71551054G>A | CA426701120 | DYSF | c.1536G>A (p.Leu512=) c.1590G>A (p.Leu530=) c.1539G>A (p.Leu513=) c.1587G>A (p.Leu529=) c.1632G>A (p.Leu544=) c.1497G>A (p.Leu499=) c.1629G>A (p.Leu543=) c.1494G>A (p.Leu498=) n.1790G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.71551054G>C | CA426701121 | DYSF | c.1536G>C (p.Leu512=) c.1590G>C (p.Leu530=) c.1539G>C (p.Leu513=) c.1587G>C (p.Leu529=) c.1632G>C (p.Leu544=) c.1497G>C (p.Leu499=) c.1629G>C (p.Leu543=) c.1494G>C (p.Leu498=) n.1790G>C | |
2 | g.71551054G= | CA1260094709 | DYSF | c.1536G= (p.Leu512=) c.1590G= (p.Leu530=) c.1539G= (p.Leu513=) c.1587G= (p.Leu529=) c.1632G= (p.Leu544=) c.1497G= (p.Leu499=) c.1629G= (p.Leu543=) c.1494G= (p.Leu498=) n.1790G= | |
2 | g.71551054G>T | CA426701122 | DYSF | c.1536G>T (p.Leu512=) c.1590G>T (p.Leu530=) c.1539G>T (p.Leu513=) c.1587G>T (p.Leu529=) c.1632G>T (p.Leu544=) c.1497G>T (p.Leu499=) c.1629G>T (p.Leu543=) c.1494G>T (p.Leu498=) n.1790G>T | |
2 | g.71551055G>A | CA347217318 | DYSF | c.1537G>A (p.Gly513Ser) c.1591G>A (p.Gly531Ser) c.1540G>A (p.Gly514Ser) c.1588G>A (p.Gly530Ser) c.1633G>A (p.Gly545Ser) c.1498G>A (p.Gly500Ser) c.1630G>A (p.Gly544Ser) c.1495G>A (p.Gly499Ser) n.1791G>A | |
2 | g.71551055G>C | CA347217319 | DYSF | c.1537G>C (p.Gly513Arg) c.1591G>C (p.Gly531Arg) c.1540G>C (p.Gly514Arg) c.1588G>C (p.Gly530Arg) c.1633G>C (p.Gly545Arg) c.1498G>C (p.Gly500Arg) c.1630G>C (p.Gly544Arg) c.1495G>C (p.Gly499Arg) n.1791G>C | |
2 | g.71551055G>T | CA347217320 | DYSF | c.1537G>T (p.Gly513Cys) c.1591G>T (p.Gly531Cys) c.1540G>T (p.Gly514Cys) c.1588G>T (p.Gly530Cys) c.1633G>T (p.Gly545Cys) c.1498G>T (p.Gly500Cys) c.1630G>T (p.Gly544Cys) c.1495G>T (p.Gly499Cys) n.1791G>T | COSMIC COSMIC |
2 | g.71551056G>A | CA347217321 | DYSF | c.1538G>A (p.Gly513Asp) c.1592G>A (p.Gly531Asp) c.1541G>A (p.Gly514Asp) c.1589G>A (p.Gly530Asp) c.1634G>A (p.Gly545Asp) c.1499G>A (p.Gly500Asp) c.1631G>A (p.Gly544Asp) c.1496G>A (p.Gly499Asp) n.1792G>A | |
2 | g.71551056G>C | CA347217322 | DYSF | c.1538G>C (p.Gly513Ala) c.1592G>C (p.Gly531Ala) c.1541G>C (p.Gly514Ala) c.1589G>C (p.Gly530Ala) c.1634G>C (p.Gly545Ala) c.1499G>C (p.Gly500Ala) c.1631G>C (p.Gly544Ala) c.1496G>C (p.Gly499Ala) n.1792G>C | |
2 | g.71551056G= | CA1260094710 | DYSF | c.1538G= (p.Gly513=) c.1592G= (p.Gly531=) c.1541G= (p.Gly514=) c.1589G= (p.Gly530=) c.1634G= (p.Gly545=) c.1499G= (p.Gly500=) c.1631G= (p.Gly544=) c.1496G= (p.Gly499=) n.1792G= | |
2 | g.71551056G>T | CA347217323 | DYSF | c.1538G>T (p.Gly513Val) c.1592G>T (p.Gly531Val) c.1541G>T (p.Gly514Val) c.1589G>T (p.Gly530Val) c.1634G>T (p.Gly545Val) c.1499G>T (p.Gly500Val) c.1631G>T (p.Gly544Val) c.1496G>T (p.Gly499Val) n.1792G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71551057C>A | CA426701123 | DYSF | c.1539C>A (p.Gly513=) c.1593C>A (p.Gly531=) c.1542C>A (p.Gly514=) c.1590C>A (p.Gly530=) c.1635C>A (p.Gly545=) c.1500C>A (p.Gly500=) c.1632C>A (p.Gly544=) c.1497C>A (p.Gly499=) n.1793C>A | |
2 | g.71551057C>G | CA426701124 | DYSF | c.1539C>G (p.Gly513=) c.1593C>G (p.Gly531=) c.1542C>G (p.Gly514=) c.1590C>G (p.Gly530=) c.1635C>G (p.Gly545=) c.1500C>G (p.Gly500=) c.1632C>G (p.Gly544=) c.1497C>G (p.Gly499=) n.1793C>G | |
2 | g.71551057C>T | CA426701125 | DYSF | c.1539C>T (p.Gly513=) c.1593C>T (p.Gly531=) c.1542C>T (p.Gly514=) c.1590C>T (p.Gly530=) c.1635C>T (p.Gly545=) c.1500C>T (p.Gly500=) c.1632C>T (p.Gly544=) c.1497C>T (p.Gly499=) n.1793C>T | |
2 | g.71551058T>A | CA347217325 | DYSF | c.1540T>A (p.Phe514Ile) c.1594T>A (p.Phe532Ile) c.1543T>A (p.Phe515Ile) c.1591T>A (p.Phe531Ile) c.1636T>A (p.Phe546Ile) c.1501T>A (p.Phe501Ile) c.1633T>A (p.Phe545Ile) c.1498T>A (p.Phe500Ile) n.1794T>A | |
2 | g.71551058T>C | CA347217326 | DYSF | c.1540T>C (p.Phe514Leu) c.1594T>C (p.Phe532Leu) c.1543T>C (p.Phe515Leu) c.1591T>C (p.Phe531Leu) c.1636T>C (p.Phe546Leu) c.1501T>C (p.Phe501Leu) c.1633T>C (p.Phe545Leu) c.1498T>C (p.Phe500Leu) n.1794T>C | |
2 | g.71551058T>G | CA347217324 | DYSF | c.1540T>G (p.Phe514Val) c.1594T>G (p.Phe532Val) c.1543T>G (p.Phe515Val) c.1591T>G (p.Phe531Val) c.1636T>G (p.Phe546Val) c.1501T>G (p.Phe501Val) c.1633T>G (p.Phe545Val) c.1498T>G (p.Phe500Val) n.1794T>G | |
2 | g.71551059del | CA2695200813 | DYSF | c.1541del (p.Phe514SerfsTer?) c.1595del (p.Phe532SerfsTer?) c.1544del (p.Phe515SerfsTer?) c.1592del (p.Phe531SerfsTer?) c.1637del (p.Phe546SerfsTer?) c.1502del (p.Phe501SerfsTer?) c.1634del (p.Phe545SerfsTer?) c.1499del (p.Phe500SerfsTer?) n.1795del | ClinVar |
2 | g.71551059T>A | CA347217327 | DYSF | c.1541T>A (p.Phe514Tyr) c.1595T>A (p.Phe532Tyr) c.1544T>A (p.Phe515Tyr) c.1592T>A (p.Phe531Tyr) c.1637T>A (p.Phe546Tyr) c.1502T>A (p.Phe501Tyr) c.1634T>A (p.Phe545Tyr) c.1499T>A (p.Phe500Tyr) n.1795T>A | |
2 | g.71551059T>C | CA347217328 | DYSF | c.1541T>C (p.Phe514Ser) c.1595T>C (p.Phe532Ser) c.1544T>C (p.Phe515Ser) c.1592T>C (p.Phe531Ser) c.1637T>C (p.Phe546Ser) c.1502T>C (p.Phe501Ser) c.1634T>C (p.Phe545Ser) c.1499T>C (p.Phe500Ser) n.1795T>C | |
2 | g.71551059T>G | CA347217329 | DYSF | c.1541T>G (p.Phe514Cys) c.1595T>G (p.Phe532Cys) c.1544T>G (p.Phe515Cys) c.1592T>G (p.Phe531Cys) c.1637T>G (p.Phe546Cys) c.1502T>G (p.Phe501Cys) c.1634T>G (p.Phe545Cys) c.1499T>G (p.Phe500Cys) n.1795T>G | |
2 | g.71551060C>A | CA347217330 | DYSF | c.1542C>A (p.Phe514Leu) c.1596C>A (p.Phe532Leu) c.1545C>A (p.Phe515Leu) c.1593C>A (p.Phe531Leu) c.1638C>A (p.Phe546Leu) c.1503C>A (p.Phe501Leu) c.1635C>A (p.Phe545Leu) c.1500C>A (p.Phe500Leu) n.1796C>A | |
2 | g.71551060C>G | CA347217331 | DYSF | c.1542C>G (p.Phe514Leu) c.1596C>G (p.Phe532Leu) c.1545C>G (p.Phe515Leu) c.1593C>G (p.Phe531Leu) c.1638C>G (p.Phe546Leu) c.1503C>G (p.Phe501Leu) c.1635C>G (p.Phe545Leu) c.1500C>G (p.Phe500Leu) n.1796C>G | |
2 | g.71551060C>T | CA426701126 | DYSF | c.1542C>T (p.Phe514=) c.1596C>T (p.Phe532=) c.1545C>T (p.Phe515=) c.1593C>T (p.Phe531=) c.1638C>T (p.Phe546=) c.1503C>T (p.Phe501=) c.1635C>T (p.Phe545=) c.1500C>T (p.Phe500=) n.1796C>T | |
2 | g.71551061del | CA2580067797 | DYSF | c.1543del (p.Leu515SerfsTer?) c.1597del (p.Leu533SerfsTer?) c.1546del (p.Leu516SerfsTer?) c.1594del (p.Leu532SerfsTer?) c.1639del (p.Leu547SerfsTer?) c.1504del (p.Leu502SerfsTer?) c.1636del (p.Leu546SerfsTer?) c.1501del (p.Leu501SerfsTer?) n.1797del | ClinVar gnomAD v4 |
2 | g.71551061C>A | CA347217332 | DYSF | c.1543C>A (p.Leu515Ile) c.1597C>A (p.Leu533Ile) c.1546C>A (p.Leu516Ile) c.1594C>A (p.Leu532Ile) c.1639C>A (p.Leu547Ile) c.1504C>A (p.Leu502Ile) c.1636C>A (p.Leu546Ile) c.1501C>A (p.Leu501Ile) n.1797C>A | |
2 | g.71551061C= | CA1260094711 | DYSF | c.1543C= (p.Leu515=) c.1597C= (p.Leu533=) c.1546C= (p.Leu516=) c.1594C= (p.Leu532=) c.1639C= (p.Leu547=) c.1504C= (p.Leu502=) c.1636C= (p.Leu546=) c.1501C= (p.Leu501=) n.1797C= | |
2 | g.71551061C>G | CA347217333 | DYSF | c.1543C>G (p.Leu515Val) c.1597C>G (p.Leu533Val) c.1546C>G (p.Leu516Val) c.1594C>G (p.Leu532Val) c.1639C>G (p.Leu547Val) c.1504C>G (p.Leu502Val) c.1636C>G (p.Leu546Val) c.1501C>G (p.Leu501Val) n.1797C>G | |
2 | g.71551061C>T | CA1705869 | DYSF | c.1543C>T (p.Leu515Phe) c.1597C>T (p.Leu533Phe) c.1546C>T (p.Leu516Phe) c.1594C>T (p.Leu532Phe) c.1639C>T (p.Leu547Phe) c.1504C>T (p.Leu502Phe) c.1636C>T (p.Leu546Phe) c.1501C>T (p.Leu501Phe) n.1797C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71551062T>A | CA347217334 | DYSF | c.1544T>A (p.Leu515His) c.1598T>A (p.Leu533His) c.1547T>A (p.Leu516His) c.1595T>A (p.Leu532His) c.1640T>A (p.Leu547His) c.1505T>A (p.Leu502His) c.1637T>A (p.Leu546His) c.1502T>A (p.Leu501His) n.1798T>A | |
2 | g.71551062T>C | CA347217335 | DYSF | c.1544T>C (p.Leu515Pro) c.1598T>C (p.Leu533Pro) c.1547T>C (p.Leu516Pro) c.1595T>C (p.Leu532Pro) c.1640T>C (p.Leu547Pro) c.1505T>C (p.Leu502Pro) c.1637T>C (p.Leu546Pro) c.1502T>C (p.Leu501Pro) n.1798T>C | |
2 | g.71551062T>G | CA347217336 | DYSF | c.1544T>G (p.Leu515Arg) c.1598T>G (p.Leu533Arg) c.1547T>G (p.Leu516Arg) c.1595T>G (p.Leu532Arg) c.1640T>G (p.Leu547Arg) c.1505T>G (p.Leu502Arg) c.1637T>G (p.Leu546Arg) c.1502T>G (p.Leu501Arg) n.1798T>G | |
2 | g.71551063C>A | CA426701127 | DYSF | c.1545C>A (p.Leu515=) c.1599C>A (p.Leu533=) c.1548C>A (p.Leu516=) c.1596C>A (p.Leu532=) c.1641C>A (p.Leu547=) c.1506C>A (p.Leu502=) c.1638C>A (p.Leu546=) c.1503C>A (p.Leu501=) n.1799C>A | |
2 | g.71551063C= | CA1260094712 | DYSF | c.1545C= (p.Leu515=) c.1599C= (p.Leu533=) c.1548C= (p.Leu516=) c.1596C= (p.Leu532=) c.1641C= (p.Leu547=) c.1506C= (p.Leu502=) c.1638C= (p.Leu546=) c.1503C= (p.Leu501=) n.1799C= | |
2 | g.71551063C>G | CA1705870 | DYSF | c.1545C>G (p.Leu515=) c.1599C>G (p.Leu533=) c.1548C>G (p.Leu516=) c.1596C>G (p.Leu532=) c.1641C>G (p.Leu547=) c.1506C>G (p.Leu502=) c.1638C>G (p.Leu546=) c.1503C>G (p.Leu501=) n.1799C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71551063C>T | CA426701128 | DYSF | c.1545C>T (p.Leu515=) c.1599C>T (p.Leu533=) c.1548C>T (p.Leu516=) c.1596C>T (p.Leu532=) c.1641C>T (p.Leu547=) c.1506C>T (p.Leu502=) c.1638C>T (p.Leu546=) c.1503C>T (p.Leu501=) n.1799C>T | ClinVar |
2 | g.71551064C>A | CA347217339 | DYSF | c.1546C>A (p.Pro516Thr) c.1600C>A (p.Pro534Thr) c.1549C>A (p.Pro517Thr) c.1597C>A (p.Pro533Thr) c.1642C>A (p.Pro548Thr) c.1507C>A (p.Pro503Thr) c.1639C>A (p.Pro547Thr) c.1504C>A (p.Pro502Thr) n.1800C>A | COSMIC COSMIC |
2 | g.71551064C= | CA1260094713 | DYSF | c.1546C= (p.Pro516=) c.1600C= (p.Pro534=) c.1549C= (p.Pro517=) c.1597C= (p.Pro533=) c.1642C= (p.Pro548=) c.1507C= (p.Pro503=) c.1639C= (p.Pro547=) c.1504C= (p.Pro502=) n.1800C= | |
2 | g.71551064C>G | CA347217337 | DYSF | c.1546C>G (p.Pro516Ala) c.1600C>G (p.Pro534Ala) c.1549C>G (p.Pro517Ala) c.1597C>G (p.Pro533Ala) c.1642C>G (p.Pro548Ala) c.1507C>G (p.Pro503Ala) c.1639C>G (p.Pro547Ala) c.1504C>G (p.Pro502Ala) n.1800C>G | gnomAD v4 |
2 | g.71551064C>T | CA347217338 | DYSF | c.1546C>T (p.Pro516Ser) c.1600C>T (p.Pro534Ser) c.1549C>T (p.Pro517Ser) c.1597C>T (p.Pro533Ser) c.1642C>T (p.Pro548Ser) c.1507C>T (p.Pro503Ser) c.1639C>T (p.Pro547Ser) c.1504C>T (p.Pro502Ser) n.1800C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71551065C>A | CA347217340 | DYSF | c.1547C>A (p.Pro516His) c.1601C>A (p.Pro534His) c.1550C>A (p.Pro517His) c.1598C>A (p.Pro533His) c.1643C>A (p.Pro548His) c.1508C>A (p.Pro503His) c.1640C>A (p.Pro547His) c.1505C>A (p.Pro502His) n.1801C>A |