Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71551020_71551050delinsGGCTTCA2695200812DYSFc.1523-21_1532delinsGGCTT
c.1577-21_1586delinsGGCTT
c.1526-21_1535delinsGGCTT
c.1574-21_1583delinsGGCTT
c.1619-21_1628delinsGGCTT
c.1484-21_1493delinsGGCTT
c.1616-21_1625delinsGGCTT
c.1481-21_1490delinsGGCTT
n.1777-21_1786delinsGGCTT
 ClinVar
2g.71551050A=CA1260094707DYSFc.1532A= (p.Tyr511=)
c.1586A= (p.Tyr529=)
c.1535A= (p.Tyr512=)
c.1583A= (p.Tyr528=)
c.1628A= (p.Tyr543=)
c.1493A= (p.Tyr498=)
c.1625A= (p.Tyr542=)
c.1490A= (p.Tyr497=)
n.1786A=
2g.71551050A>CCA347217310DYSFc.1532A>C (p.Tyr511Ser)
c.1586A>C (p.Tyr529Ser)
c.1535A>C (p.Tyr512Ser)
c.1583A>C (p.Tyr528Ser)
c.1628A>C (p.Tyr543Ser)
c.1493A>C (p.Tyr498Ser)
c.1625A>C (p.Tyr542Ser)
c.1490A>C (p.Tyr497Ser)
n.1786A>C
2g.71551050A>GCA347217309DYSFc.1532A>G (p.Tyr511Cys)
c.1586A>G (p.Tyr529Cys)
c.1535A>G (p.Tyr512Cys)
c.1583A>G (p.Tyr528Cys)
c.1628A>G (p.Tyr543Cys)
c.1493A>G (p.Tyr498Cys)
c.1625A>G (p.Tyr542Cys)
c.1490A>G (p.Tyr497Cys)
n.1786A>G
2g.71551050A>TCA347217308DYSFc.1532A>T (p.Tyr511Phe)
c.1586A>T (p.Tyr529Phe)
c.1535A>T (p.Tyr512Phe)
c.1583A>T (p.Tyr528Phe)
c.1628A>T (p.Tyr543Phe)
c.1493A>T (p.Tyr498Phe)
c.1625A>T (p.Tyr542Phe)
c.1490A>T (p.Tyr497Phe)
n.1786A>T
 dbSNP gnomAD v3 gnomAD v4
2g.71551051C>ACA347217311DYSFc.1533C>A (p.Tyr511Ter)
c.1587C>A (p.Tyr529Ter)
c.1536C>A (p.Tyr512Ter)
c.1584C>A (p.Tyr528Ter)
c.1629C>A (p.Tyr543Ter)
c.1494C>A (p.Tyr498Ter)
c.1626C>A (p.Tyr542Ter)
c.1491C>A (p.Tyr497Ter)
n.1787C>A
2g.71551051C>GCA347217312DYSFc.1533C>G (p.Tyr511Ter)
c.1587C>G (p.Tyr529Ter)
c.1536C>G (p.Tyr512Ter)
c.1584C>G (p.Tyr528Ter)
c.1629C>G (p.Tyr543Ter)
c.1494C>G (p.Tyr498Ter)
c.1626C>G (p.Tyr542Ter)
c.1491C>G (p.Tyr497Ter)
n.1787C>G
 gnomAD v4
2g.71551051C>TCA426701118DYSFc.1533C>T (p.Tyr511=)
c.1587C>T (p.Tyr529=)
c.1536C>T (p.Tyr512=)
c.1584C>T (p.Tyr528=)
c.1629C>T (p.Tyr543=)
c.1494C>T (p.Tyr498=)
c.1626C>T (p.Tyr542=)
c.1491C>T (p.Tyr497=)
n.1787C>T
 ClinVar
2g.71551052C>ACA347217313DYSFc.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
2g.71551052C=CA1260094708DYSFc.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=
2g.71551052C>GCA347217314DYSFc.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
2g.71551052C>TCA426701119DYSFc.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
2g.71551053T>ACA347217315DYSFc.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
2g.71551053T>CCA347217316DYSFc.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
2g.71551053T>GCA347217317DYSFc.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
2g.71551053_71551056dupCA913190077DYSFc.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
2g.71551058_71551076delCA2586969584DYSFc.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
2g.71551054G>ACA426701120DYSFc.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
2g.71551054G>CCA426701121DYSFc.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
2g.71551054G=CA1260094709DYSFc.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=
2g.71551054G>TCA426701122DYSFc.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
2g.71551055G>ACA347217318DYSFc.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
2g.71551055G>CCA347217319DYSFc.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
2g.71551055G>TCA347217320DYSFc.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
2g.71551056G>ACA347217321DYSFc.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
2g.71551056G>CCA347217322DYSFc.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
2g.71551056G=CA1260094710DYSFc.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=
2g.71551056G>TCA347217323DYSFc.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
2g.71551057C>ACA426701123DYSFc.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
2g.71551057C>GCA426701124DYSFc.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
2g.71551057C>TCA426701125DYSFc.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
2g.71551058T>ACA347217325DYSFc.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
2g.71551058T>CCA347217326DYSFc.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
2g.71551058T>GCA347217324DYSFc.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
2g.71551059delCA2695200813DYSFc.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
2g.71551059T>ACA347217327DYSFc.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
2g.71551059T>CCA347217328DYSFc.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
2g.71551059T>GCA347217329DYSFc.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
2g.71551060C>ACA347217330DYSFc.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
2g.71551060C>GCA347217331DYSFc.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
2g.71551060C>TCA426701126DYSFc.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
2g.71551061delCA2580067797DYSFc.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
2g.71551061C>ACA347217332DYSFc.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
2g.71551061C=CA1260094711DYSFc.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=
2g.71551061C>GCA347217333DYSFc.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
2g.71551061C>TCA1705869DYSFc.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
2g.71551062T>ACA347217334DYSFc.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
2g.71551062T>CCA347217335DYSFc.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
2g.71551062T>GCA347217336DYSFc.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
2g.71551063C>ACA426701127DYSFc.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

Number of alleles fetched