Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.71551073G>ACA253913DYSFc.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
2g.71551073G>CCA347217356DYSFc.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
2g.71551073G=CA1260094718DYSFc.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=
2g.71551073G>TCA347217357DYSFc.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
2g.71551074G>ACA347217358DYSFc.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
2g.71551074G>CCA347217360DYSFc.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
2g.71551074G>TCA347217359DYSFc.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
2g.71551075G>ACA426701135DYSFc.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
2g.71551075G>CCA1705872DYSFc.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
2g.71551075G=CA1260094719DYSFc.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=
2g.71551075G>TCA426701136DYSFc.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
2g.71551076C>ACA347217361DYSFc.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
2g.71551076C=CA1260094720DYSFc.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=
2g.71551076C>GCA347217362DYSFc.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
2g.71551076C>TCA347217363DYSFc.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
2g.71551077C>ACA347217364DYSFc.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
2g.71551077C>GCA347217366DYSFc.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
2g.71551077C>TCA347217365DYSFc.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
2g.71551078C>ACA426701137DYSFc.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
2g.71551078C>GCA426701138DYSFc.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
2g.71551078C>TCA426701139DYSFc.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
2g.71551079T>ACA347217367DYSFc.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
2g.71551079T>CCA347217368DYSFc.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
2g.71551079T>GCA347217369DYSFc.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
2g.71551079T=CA1260094721DYSFc.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=
2g.71551080G>ACA347217370DYSFc.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
2g.71551080G>CCA347217371DYSFc.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
2g.71551080G>TCA347217372DYSFc.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
2g.71551081C>ACA347217373DYSFc.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
2g.71551081C=CA1260094722DYSFc.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=
2g.71551081C>GCA347217374DYSFc.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
2g.71551081C>TCA426701140DYSFc.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
2g.71551082T>ACA347217375DYSFc.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
2g.71551082T>CCA1705873DYSFc.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
2g.71551082T>GCA347217376DYSFc.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
2g.71551082T=CA1260094723DYSFc.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=
2g.71551083A=CA1260094724DYSFc.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=
2g.71551083A>CCA347217377DYSFc.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
2g.71551083A>GCA1705874DYSFc.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
2g.71551083A>TCA347217378DYSFc.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
2g.71551084C>ACA347217379DYSFc.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
2g.71551084C=CA1260094725DYSFc.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=
2g.71551084C>GCA347217380DYSFc.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
2g.71551084C>TCA426701141DYSFc.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
2g.71551085A=CA1260094726DYSFc.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=
2g.71551085A>CCA347217381DYSFc.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
2g.71551085A>GCA347217382DYSFc.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
2g.71551085A>TCA347217383DYSFc.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
2g.71551086T>ACA347217384DYSFc.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
2g.71551086T>CCA347217385DYSFc.1568T>C (p.Ile523Thr)
c.1622T>C (p.Ile541Thr)
c.1571T>C (p.Ile524Thr)
c.1619T>C (p.Ile540Thr)
c.1664T>C (p.Ile555Thr)
c.1529T>C (p.Ile510Thr)
c.1661T>C (p.Ile554Thr)
c.1526T>C (p.Ile509Thr)
n.1822T>C
2g.71551086T>GCA347217386DYSFc.1568T>G (p.Ile523Ser)
c.1622T>G (p.Ile541Ser)
c.1571T>G (p.Ile524Ser)
c.1619T>G (p.Ile540Ser)
c.1664T>G (p.Ile555Ser)
c.1529T>G (p.Ile510Ser)
c.1661T>G (p.Ile554Ser)
c.1526T>G (p.Ile509Ser)
n.1822T>G
2g.71551087C>ACA426701142DYSFc.1569C>A (p.Ile523=)
c.1623C>A (p.Ile541=)
c.1572C>A (p.Ile524=)
c.1620C>A (p.Ile540=)
c.1665C>A (p.Ile555=)
c.1530C>A (p.Ile510=)
c.1662C>A (p.Ile554=)
c.1527C>A (p.Ile509=)
n.1823C>A
2g.71551087C>GCA347217387DYSFc.1569C>G (p.Ile523Met)
c.1623C>G (p.Ile541Met)
c.1572C>G (p.Ile524Met)
c.1620C>G (p.Ile540Met)
c.1665C>G (p.Ile555Met)
c.1530C>G (p.Ile510Met)
c.1662C>G (p.Ile554Met)
c.1527C>G (p.Ile509Met)
n.1823C>G
2g.71551087C>TCA426701143DYSFc.1569C>T (p.Ile523=)
c.1623C>T (p.Ile541=)
c.1572C>T (p.Ile524=)
c.1620C>T (p.Ile540=)
c.1665C>T (p.Ile555=)
c.1530C>T (p.Ile510=)
c.1662C>T (p.Ile554=)
c.1527C>T (p.Ile509=)
n.1823C>T
 ClinVar gnomAD v4
2g.71551088A=CA1260094727DYSFc.1570A= (p.Asn524=)
c.1624A= (p.Asn542=)
c.1573A= (p.Asn525=)
c.1621A= (p.Asn541=)
c.1666A= (p.Asn556=)
c.1531A= (p.Asn511=)
c.1663A= (p.Asn555=)
c.1528A= (p.Asn510=)
n.1824A=
2g.71551088A>CCA347217388DYSFc.1570A>C (p.Asn524His)
c.1624A>C (p.Asn542His)
c.1573A>C (p.Asn525His)
c.1621A>C (p.Asn541His)
c.1666A>C (p.Asn556His)
c.1531A>C (p.Asn511His)
c.1663A>C (p.Asn555His)
c.1528A>C (p.Asn510His)
n.1824A>C
2g.71551088A>GCA49792897DYSFc.1570A>G (p.Asn524Asp)
c.1624A>G (p.Asn542Asp)
c.1573A>G (p.Asn525Asp)
c.1621A>G (p.Asn541Asp)
c.1666A>G (p.Asn556Asp)
c.1531A>G (p.Asn511Asp)
c.1663A>G (p.Asn555Asp)
c.1528A>G (p.Asn510Asp)
n.1824A>G
 dbSNP
2g.71551088A>TCA347217389DYSFc.1570A>T (p.Asn524Tyr)
c.1624A>T (p.Asn542Tyr)
c.1573A>T (p.Asn525Tyr)
c.1621A>T (p.Asn541Tyr)
c.1666A>T (p.Asn556Tyr)
c.1531A>T (p.Asn511Tyr)
c.1663A>T (p.Asn555Tyr)
c.1528A>T (p.Asn510Tyr)
n.1824A>T
2g.71551089delCA2573052006DYSFc.1571del (p.Asn524ThrfsTer?)
c.1625del (p.Asn542ThrfsTer?)
c.1574del (p.Asn525ThrfsTer?)
c.1622del (p.Asn541ThrfsTer?)
c.1667del (p.Asn556ThrfsTer?)
c.1532del (p.Asn511ThrfsTer?)
c.1664del (p.Asn555ThrfsTer?)
c.1529del (p.Asn510ThrfsTer?)
n.1825del
 ClinVar dbSNP
2g.71551089A>CCA347217392DYSFc.1571A>C (p.Asn524Thr)
c.1625A>C (p.Asn542Thr)
c.1574A>C (p.Asn525Thr)
c.1622A>C (p.Asn541Thr)
c.1667A>C (p.Asn556Thr)
c.1532A>C (p.Asn511Thr)
c.1664A>C (p.Asn555Thr)
c.1529A>C (p.Asn510Thr)
n.1825A>C
2g.71551089A>GCA347217390DYSFc.1571A>G (p.Asn524Ser)
c.1625A>G (p.Asn542Ser)
c.1574A>G (p.Asn525Ser)
c.1622A>G (p.Asn541Ser)
c.1667A>G (p.Asn556Ser)
c.1532A>G (p.Asn511Ser)
c.1664A>G (p.Asn555Ser)
c.1529A>G (p.Asn510Ser)
n.1825A>G
2g.71551089A>TCA347217391DYSFc.1571A>T (p.Asn524Ile)
c.1625A>T (p.Asn542Ile)
c.1574A>T (p.Asn525Ile)
c.1622A>T (p.Asn541Ile)
c.1667A>T (p.Asn556Ile)
c.1532A>T (p.Asn511Ile)
c.1664A>T (p.Asn555Ile)
c.1529A>T (p.Asn510Ile)
n.1825A>T
2g.71551090C>ACA347217393DYSFc.1572C>A (p.Asn524Lys)
c.1626C>A (p.Asn542Lys)
c.1575C>A (p.Asn525Lys)
c.1623C>A (p.Asn541Lys)
c.1668C>A (p.Asn556Lys)
c.1533C>A (p.Asn511Lys)
c.1665C>A (p.Asn555Lys)
c.1530C>A (p.Asn510Lys)
n.1826C>A
2g.71551090C=CA1260094728DYSFc.1572C= (p.Asn524=)
c.1626C= (p.Asn542=)
c.1575C= (p.Asn525=)
c.1623C= (p.Asn541=)
c.1668C= (p.Asn556=)
c.1533C= (p.Asn511=)
c.1665C= (p.Asn555=)
c.1530C= (p.Asn510=)
n.1826C=
2g.71551090C>GCA347217394DYSFc.1572C>G (p.Asn524Lys)
c.1626C>G (p.Asn542Lys)
c.1575C>G (p.Asn525Lys)
c.1623C>G (p.Asn541Lys)
c.1668C>G (p.Asn556Lys)
c.1533C>G (p.Asn511Lys)
c.1665C>G (p.Asn555Lys)
c.1530C>G (p.Asn510Lys)
n.1826C>G
 dbSNP
2g.71551090C>TCA201384DYSFc.1572C>T (p.Asn524=)
c.1626C>T (p.Asn542=)
c.1575C>T (p.Asn525=)
c.1623C>T (p.Asn541=)
c.1668C>T (p.Asn556=)
c.1533C>T (p.Asn511=)
c.1665C>T (p.Asn555=)
c.1530C>T (p.Asn510=)
n.1826C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71551091C>ACA347217395DYSFc.1573C>A (p.Leu525Ile)
c.1627C>A (p.Leu543Ile)
c.1576C>A (p.Leu526Ile)
c.1624C>A (p.Leu542Ile)
c.1669C>A (p.Leu557Ile)
c.1534C>A (p.Leu512Ile)
c.1666C>A (p.Leu556Ile)
c.1531C>A (p.Leu511Ile)
n.1827C>A
2g.71551091C>GCA347217396DYSFc.1573C>G (p.Leu525Val)
c.1627C>G (p.Leu543Val)
c.1576C>G (p.Leu526Val)
c.1624C>G (p.Leu542Val)
c.1669C>G (p.Leu557Val)
c.1534C>G (p.Leu512Val)
c.1666C>G (p.Leu556Val)
c.1531C>G (p.Leu511Val)
n.1827C>G
 gnomAD v4
2g.71551091C>TCA347217397DYSFc.1573C>T (p.Leu525Phe)
c.1627C>T (p.Leu543Phe)
c.1576C>T (p.Leu526Phe)
c.1624C>T (p.Leu542Phe)
c.1669C>T (p.Leu557Phe)
c.1534C>T (p.Leu512Phe)
c.1666C>T (p.Leu556Phe)
c.1531C>T (p.Leu511Phe)
n.1827C>T
2g.71551092T>ACA347217398DYSFc.1574T>A (p.Leu525His)
c.1628T>A (p.Leu543His)
c.1577T>A (p.Leu526His)
c.1625T>A (p.Leu542His)
c.1670T>A (p.Leu557His)
c.1535T>A (p.Leu512His)
c.1667T>A (p.Leu556His)
c.1532T>A (p.Leu511His)
n.1828T>A
2g.71551092T>CCA347217399DYSFc.1574T>C (p.Leu525Pro)
c.1628T>C (p.Leu543Pro)
c.1577T>C (p.Leu526Pro)
c.1625T>C (p.Leu542Pro)
c.1670T>C (p.Leu557Pro)
c.1535T>C (p.Leu512Pro)
c.1667T>C (p.Leu556Pro)
c.1532T>C (p.Leu511Pro)
n.1828T>C
2g.71551092T>GCA347217400DYSFc.1574T>G (p.Leu525Arg)
c.1628T>G (p.Leu543Arg)
c.1577T>G (p.Leu526Arg)
c.1625T>G (p.Leu542Arg)
c.1670T>G (p.Leu557Arg)
c.1535T>G (p.Leu512Arg)
c.1667T>G (p.Leu556Arg)
c.1532T>G (p.Leu511Arg)
n.1828T>G
2g.71551093C>ACA426701145DYSFc.1575C>A (p.Leu525=)
c.1629C>A (p.Leu543=)
c.1578C>A (p.Leu526=)
c.1626C>A (p.Leu542=)
c.1671C>A (p.Leu557=)
c.1536C>A (p.Leu512=)
c.1668C>A (p.Leu556=)
c.1533C>A (p.Leu511=)
n.1829C>A
 ClinVar dbSNP
2g.71551093C>GCA426701146DYSFc.1575C>G (p.Leu525=)
c.1629C>G (p.Leu543=)
c.1578C>G (p.Leu526=)
c.1626C>G (p.Leu542=)
c.1671C>G (p.Leu557=)
c.1536C>G (p.Leu512=)
c.1668C>G (p.Leu556=)
c.1533C>G (p.Leu511=)
n.1829C>G
2g.71551093C>TCA426701144DYSFc.1575C>T (p.Leu525=)
c.1629C>T (p.Leu543=)
c.1578C>T (p.Leu526=)
c.1626C>T (p.Leu542=)
c.1671C>T (p.Leu557=)
c.1536C>T (p.Leu512=)
c.1668C>T (p.Leu556=)
c.1533C>T (p.Leu511=)
n.1829C>T
2g.71551094T>ACA347217401DYSFc.1576T>A (p.Tyr526Asn)
c.1630T>A (p.Tyr544Asn)
c.1579T>A (p.Tyr527Asn)
c.1627T>A (p.Tyr543Asn)
c.1672T>A (p.Tyr558Asn)
c.1537T>A (p.Tyr513Asn)
c.1669T>A (p.Tyr557Asn)
c.1534T>A (p.Tyr512Asn)
n.1830T>A
2g.71551094T>CCA347217402DYSFc.1576T>C (p.Tyr526His)
c.1630T>C (p.Tyr544His)
c.1579T>C (p.Tyr527His)
c.1627T>C (p.Tyr543His)
c.1672T>C (p.Tyr558His)
c.1537T>C (p.Tyr513His)
c.1669T>C (p.Tyr557His)
c.1534T>C (p.Tyr512His)
n.1830T>C
2g.71551094T>GCA347217403DYSFc.1576T>G (p.Tyr526Asp)
c.1630T>G (p.Tyr544Asp)
c.1579T>G (p.Tyr527Asp)
c.1627T>G (p.Tyr543Asp)
c.1672T>G (p.Tyr558Asp)
c.1537T>G (p.Tyr513Asp)
c.1669T>G (p.Tyr557Asp)
c.1534T>G (p.Tyr512Asp)
n.1830T>G
2g.71551095A=CA1260094729DYSFc.1577A= (p.Tyr526=)
c.1631A= (p.Tyr544=)
c.1580A= (p.Tyr527=)
c.1628A= (p.Tyr543=)
c.1673A= (p.Tyr558=)
c.1538A= (p.Tyr513=)
c.1670A= (p.Tyr557=)
c.1535A= (p.Tyr512=)
n.1831A=
2g.71551095A>CCA347217405DYSFc.1577A>C (p.Tyr526Ser)
c.1631A>C (p.Tyr544Ser)
c.1580A>C (p.Tyr527Ser)
c.1628A>C (p.Tyr543Ser)
c.1673A>C (p.Tyr558Ser)
c.1538A>C (p.Tyr513Ser)
c.1670A>C (p.Tyr557Ser)
c.1535A>C (p.Tyr512Ser)
n.1831A>C
2g.71551095A>GCA49792900DYSFc.1577A>G (p.Tyr526Cys)
c.1631A>G (p.Tyr544Cys)
c.1580A>G (p.Tyr527Cys)
c.1628A>G (p.Tyr543Cys)
c.1673A>G (p.Tyr558Cys)
c.1538A>G (p.Tyr513Cys)
c.1670A>G (p.Tyr557Cys)
c.1535A>G (p.Tyr512Cys)
n.1831A>G
 ClinVar dbSNP gnomAD v4
2g.71551095A>TCA347217404DYSFc.1577A>T (p.Tyr526Phe)
c.1631A>T (p.Tyr544Phe)
c.1580A>T (p.Tyr527Phe)
c.1628A>T (p.Tyr543Phe)
c.1673A>T (p.Tyr558Phe)
c.1538A>T (p.Tyr513Phe)
c.1670A>T (p.Tyr557Phe)
c.1535A>T (p.Tyr512Phe)
n.1831A>T
2g.71551096delCA2739272994DYSFc.1578del (p.Tyr526Ter)
c.1632del (p.Tyr544Ter)
c.1581del (p.Tyr527Ter)
c.1629del (p.Tyr543Ter)
c.1674del (p.Tyr558Ter)
c.1539del (p.Tyr513Ter)
c.1671del (p.Tyr557Ter)
c.1536del (p.Tyr512Ter)
n.1832del
 ClinVar
2g.71551096T>ACA347217407DYSFc.1578T>A (p.Tyr526Ter)
c.1632T>A (p.Tyr544Ter)
c.1581T>A (p.Tyr527Ter)
c.1629T>A (p.Tyr543Ter)
c.1674T>A (p.Tyr558Ter)
c.1539T>A (p.Tyr513Ter)
c.1671T>A (p.Tyr557Ter)
c.1536T>A (p.Tyr512Ter)
n.1832T>A
2g.71551096T>CCA426701147DYSFc.1578T>C (p.Tyr526=)
c.1632T>C (p.Tyr544=)
c.1581T>C (p.Tyr527=)
c.1629T>C (p.Tyr543=)
c.1674T>C (p.Tyr558=)
c.1539T>C (p.Tyr513=)
c.1671T>C (p.Tyr557=)
c.1536T>C (p.Tyr512=)
n.1832T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71551096T>GCA347217406DYSFc.1578T>G (p.Tyr526Ter)
c.1632T>G (p.Tyr544Ter)
c.1581T>G (p.Tyr527Ter)
c.1629T>G (p.Tyr543Ter)
c.1674T>G (p.Tyr558Ter)
c.1539T>G (p.Tyr513Ter)
c.1671T>G (p.Tyr557Ter)
c.1536T>G (p.Tyr512Ter)
n.1832T>G
2g.71551096T=CA1260094730DYSFc.1578T= (p.Tyr526=)
c.1632T= (p.Tyr544=)
c.1581T= (p.Tyr527=)
c.1629T= (p.Tyr543=)
c.1674T= (p.Tyr558=)
c.1539T= (p.Tyr513=)
c.1671T= (p.Tyr557=)
c.1536T= (p.Tyr512=)
n.1832T=
2g.71551097G>ACA347217408DYSFc.1579G>A (p.Gly527Ser)
c.1633G>A (p.Gly545Ser)
c.1582G>A (p.Gly528Ser)
c.1630G>A (p.Gly544Ser)
c.1675G>A (p.Gly559Ser)
c.1540G>A (p.Gly514Ser)
c.1672G>A (p.Gly558Ser)
c.1537G>A (p.Gly513Ser)
n.1833G>A
 gnomAD v4
2g.71551097G>CCA347217409DYSFc.1579G>C (p.Gly527Arg)
c.1633G>C (p.Gly545Arg)
c.1582G>C (p.Gly528Arg)
c.1630G>C (p.Gly544Arg)
c.1675G>C (p.Gly559Arg)
c.1540G>C (p.Gly514Arg)
c.1672G>C (p.Gly558Arg)
c.1537G>C (p.Gly513Arg)
n.1833G>C
2g.71551097G=CA1260094731DYSFc.1579G= (p.Gly527=)
c.1633G= (p.Gly545=)
c.1582G= (p.Gly528=)
c.1630G= (p.Gly544=)
c.1675G= (p.Gly559=)
c.1540G= (p.Gly514=)
c.1672G= (p.Gly558=)
c.1537G= (p.Gly513=)
n.1833G=
2g.71551097G>TCA347217410DYSFc.1579G>T (p.Gly527Cys)
c.1633G>T (p.Gly545Cys)
c.1582G>T (p.Gly528Cys)
c.1630G>T (p.Gly544Cys)
c.1675G>T (p.Gly559Cys)
c.1540G>T (p.Gly514Cys)
c.1672G>T (p.Gly558Cys)
c.1537G>T (p.Gly513Cys)
n.1833G>T
 dbSNP gnomAD v4
2g.71551098G>ACA347217411DYSFc.1580G>A (p.Gly527Asp)
c.1634G>A (p.Gly545Asp)
c.1583G>A (p.Gly528Asp)
c.1631G>A (p.Gly544Asp)
c.1676G>A (p.Gly559Asp)
c.1541G>A (p.Gly514Asp)
c.1673G>A (p.Gly558Asp)
c.1538G>A (p.Gly513Asp)
n.1834G>A
 COSMIC COSMIC
2g.71551098G>CCA347217412DYSFc.1580G>C (p.Gly527Ala)
c.1634G>C (p.Gly545Ala)
c.1583G>C (p.Gly528Ala)
c.1631G>C (p.Gly544Ala)
c.1676G>C (p.Gly559Ala)
c.1541G>C (p.Gly514Ala)
c.1673G>C (p.Gly558Ala)
c.1538G>C (p.Gly513Ala)
n.1834G>C
2g.71551098G>TCA347217413DYSFc.1580G>T (p.Gly527Val)
c.1634G>T (p.Gly545Val)
c.1583G>T (p.Gly528Val)
c.1631G>T (p.Gly544Val)
c.1676G>T (p.Gly559Val)
c.1541G>T (p.Gly514Val)
c.1673G>T (p.Gly558Val)
c.1538G>T (p.Gly513Val)
n.1834G>T
2g.71551099C>ACA426701148DYSFc.1581C>A (p.Gly527=)
c.1635C>A (p.Gly545=)
c.1584C>A (p.Gly528=)
c.1632C>A (p.Gly544=)
c.1677C>A (p.Gly559=)
c.1542C>A (p.Gly514=)
c.1674C>A (p.Gly558=)
c.1539C>A (p.Gly513=)
n.1835C>A
 ClinVar dbSNP
2g.71551099C=CA1260094732DYSFc.1581C= (p.Gly527=)
c.1635C= (p.Gly545=)
c.1584C= (p.Gly528=)
c.1632C= (p.Gly544=)
c.1677C= (p.Gly559=)
c.1542C= (p.Gly514=)
c.1674C= (p.Gly558=)
c.1539C= (p.Gly513=)
n.1835C=
2g.71551099C>GCA426701150DYSFc.1581C>G (p.Gly527=)
c.1635C>G (p.Gly545=)
c.1584C>G (p.Gly528=)
c.1632C>G (p.Gly544=)
c.1677C>G (p.Gly559=)
c.1542C>G (p.Gly514=)
c.1674C>G (p.Gly558=)
c.1539C>G (p.Gly513=)
n.1835C>G
2g.71551099C>TCA426701149DYSFc.1581C>T (p.Gly527=)
c.1635C>T (p.Gly545=)
c.1584C>T (p.Gly528=)
c.1632C>T (p.Gly544=)
c.1677C>T (p.Gly559=)
c.1542C>T (p.Gly514=)
c.1674C>T (p.Gly558=)
c.1539C>T (p.Gly513=)
n.1835C>T
2g.71551100A=CA1260094733DYSFc.1582A= (p.Ser528=)
c.1636A= (p.Ser546=)
c.1585A= (p.Ser529=)
c.1633A= (p.Ser545=)
c.1678A= (p.Ser560=)
c.1543A= (p.Ser515=)
c.1675A= (p.Ser559=)
c.1540A= (p.Ser514=)
n.1836A=
2g.71551100A>CCA347217416DYSFc.1582A>C (p.Ser528Arg)
c.1636A>C (p.Ser546Arg)
c.1585A>C (p.Ser529Arg)
c.1633A>C (p.Ser545Arg)
c.1678A>C (p.Ser560Arg)
c.1543A>C (p.Ser515Arg)
c.1675A>C (p.Ser559Arg)
c.1540A>C (p.Ser514Arg)
n.1836A>C
 dbSNP gnomAD v4
2g.71551100A>GCA347217414DYSFc.1582A>G (p.Ser528Gly)
c.1636A>G (p.Ser546Gly)
c.1585A>G (p.Ser529Gly)
c.1633A>G (p.Ser545Gly)
c.1678A>G (p.Ser560Gly)
c.1543A>G (p.Ser515Gly)
c.1675A>G (p.Ser559Gly)
c.1540A>G (p.Ser514Gly)
n.1836A>G
2g.71551100A>TCA347217415DYSFc.1582A>T (p.Ser528Cys)
c.1636A>T (p.Ser546Cys)
c.1585A>T (p.Ser529Cys)
c.1633A>T (p.Ser545Cys)
c.1678A>T (p.Ser560Cys)
c.1543A>T (p.Ser515Cys)
c.1675A>T (p.Ser559Cys)
c.1540A>T (p.Ser514Cys)
n.1836A>T
2g.71551101G>ACA347217417DYSFc.1583G>A (p.Ser528Asn)
c.1637G>A (p.Ser546Asn)
c.1586G>A (p.Ser529Asn)
c.1634G>A (p.Ser545Asn)
c.1679G>A (p.Ser560Asn)
c.1544G>A (p.Ser515Asn)
c.1676G>A (p.Ser559Asn)
c.1541G>A (p.Ser514Asn)
n.1837G>A
2g.71551101G>CCA347217418DYSFc.1583G>C (p.Ser528Thr)
c.1637G>C (p.Ser546Thr)
c.1586G>C (p.Ser529Thr)
c.1634G>C (p.Ser545Thr)
c.1679G>C (p.Ser560Thr)
c.1544G>C (p.Ser515Thr)
c.1676G>C (p.Ser559Thr)
c.1541G>C (p.Ser514Thr)
n.1837G>C
2g.71551101G>TCA347217419DYSFc.1583G>T (p.Ser528Ile)
c.1637G>T (p.Ser546Ile)
c.1586G>T (p.Ser529Ile)
c.1634G>T (p.Ser545Ile)
c.1679G>T (p.Ser560Ile)
c.1544G>T (p.Ser515Ile)
c.1676G>T (p.Ser559Ile)
c.1541G>T (p.Ser514Ile)
n.1837G>T
 COSMIC COSMIC
2g.71551102T>ACA347217420DYSFc.1584T>A (p.Ser528Arg)
c.1638T>A (p.Ser546Arg)
c.1587T>A (p.Ser529Arg)
c.1635T>A (p.Ser545Arg)
c.1680T>A (p.Ser560Arg)
c.1545T>A (p.Ser515Arg)
c.1677T>A (p.Ser559Arg)
c.1542T>A (p.Ser514Arg)
n.1838T>A
2g.71551102T>CCA426701151DYSFc.1584T>C (p.Ser528=)
c.1638T>C (p.Ser546=)
c.1587T>C (p.Ser529=)
c.1635T>C (p.Ser545=)
c.1680T>C (p.Ser560=)
c.1545T>C (p.Ser515=)
c.1677T>C (p.Ser559=)
c.1542T>C (p.Ser514=)
n.1838T>C
2g.71551102T>GCA347217421DYSFc.1584T>G (p.Ser528Arg)
c.1638T>G (p.Ser546Arg)
c.1587T>G (p.Ser529Arg)
c.1635T>G (p.Ser545Arg)
c.1680T>G (p.Ser560Arg)
c.1545T>G (p.Ser515Arg)
c.1677T>G (p.Ser559Arg)
c.1542T>G (p.Ser514Arg)
n.1838T>G
2g.71551103C>ACA347217423DYSFc.1585C>A (p.Pro529Thr)
c.1639C>A (p.Pro547Thr)
c.1588C>A (p.Pro530Thr)
c.1636C>A (p.Pro546Thr)
c.1681C>A (p.Pro561Thr)
c.1546C>A (p.Pro516Thr)
c.1678C>A (p.Pro560Thr)
c.1543C>A (p.Pro515Thr)
n.1839C>A
2g.71551103C=CA1260094734DYSFc.1585C= (p.Pro529=)
c.1639C= (p.Pro547=)
c.1588C= (p.Pro530=)
c.1636C= (p.Pro546=)
c.1681C= (p.Pro561=)
c.1546C= (p.Pro516=)
c.1678C= (p.Pro560=)
c.1543C= (p.Pro515=)
n.1839C=
2g.71551103C>GCA347217422DYSFc.1585C>G (p.Pro529Ala)
c.1639C>G (p.Pro547Ala)
c.1588C>G (p.Pro530Ala)
c.1636C>G (p.Pro546Ala)
c.1681C>G (p.Pro561Ala)
c.1546C>G (p.Pro516Ala)
c.1678C>G (p.Pro560Ala)
c.1543C>G (p.Pro515Ala)
n.1839C>G
2g.71551103C>TCA1705875DYSFc.1585C>T (p.Pro529Ser)
c.1639C>T (p.Pro547Ser)
c.1588C>T (p.Pro530Ser)
c.1636C>T (p.Pro546Ser)
c.1681C>T (p.Pro561Ser)
c.1546C>T (p.Pro516Ser)
c.1678C>T (p.Pro560Ser)
c.1543C>T (p.Pro515Ser)
n.1839C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71551104C>ACA347217424DYSFc.1586C>A (p.Pro529His)
c.1640C>A (p.Pro547His)
c.1589C>A (p.Pro530His)
c.1637C>A (p.Pro546His)
c.1682C>A (p.Pro561His)
c.1547C>A (p.Pro516His)
c.1679C>A (p.Pro560His)
c.1544C>A (p.Pro515His)
n.1840C>A
2g.71551104C>GCA347217425DYSFc.1586C>G (p.Pro529Arg)
c.1640C>G (p.Pro547Arg)
c.1589C>G (p.Pro530Arg)
c.1637C>G (p.Pro546Arg)
c.1682C>G (p.Pro561Arg)
c.1547C>G (p.Pro516Arg)
c.1679C>G (p.Pro560Arg)
c.1544C>G (p.Pro515Arg)
n.1840C>G
2g.71551104C>TCA347217426DYSFc.1586C>T (p.Pro529Leu)
c.1640C>T (p.Pro547Leu)
c.1589C>T (p.Pro530Leu)
c.1637C>T (p.Pro546Leu)
c.1682C>T (p.Pro561Leu)
c.1547C>T (p.Pro516Leu)
c.1679C>T (p.Pro560Leu)
c.1544C>T (p.Pro515Leu)
n.1840C>T
2g.71551105C>ACA426701152DYSFc.1587C>A (p.Pro529=)
c.1641C>A (p.Pro547=)
c.1590C>A (p.Pro530=)
c.1638C>A (p.Pro546=)
c.1683C>A (p.Pro561=)
c.1548C>A (p.Pro516=)
c.1680C>A (p.Pro560=)
c.1545C>A (p.Pro515=)
n.1841C>A
 ClinVar
2g.71551105C>GCA426701153DYSFc.1587C>G (p.Pro529=)
c.1641C>G (p.Pro547=)
c.1590C>G (p.Pro530=)
c.1638C>G (p.Pro546=)
c.1683C>G (p.Pro561=)
c.1548C>G (p.Pro516=)
c.1680C>G (p.Pro560=)
c.1545C>G (p.Pro515=)
n.1841C>G
2g.71551105C>TCA426701154DYSFc.1587C>T (p.Pro529=)
c.1641C>T (p.Pro547=)
c.1590C>T (p.Pro530=)
c.1638C>T (p.Pro546=)
c.1683C>T (p.Pro561=)
c.1548C>T (p.Pro516=)
c.1680C>T (p.Pro560=)
c.1545C>T (p.Pro515=)
n.1841C>T
2g.71551106A>CCA426701155DYSFc.1588A>C (p.Arg530=)
c.1642A>C (p.Arg548=)
c.1591A>C (p.Arg531=)
c.1639A>C (p.Arg547=)
c.1684A>C (p.Arg562=)
c.1549A>C (p.Arg517=)
c.1681A>C (p.Arg561=)
c.1546A>C (p.Arg516=)
n.1842A>C
2g.71551106A>GCA347217427DYSFc.1588A>G (p.Arg530Gly)
c.1642A>G (p.Arg548Gly)
c.1591A>G (p.Arg531Gly)
c.1639A>G (p.Arg547Gly)
c.1684A>G (p.Arg562Gly)
c.1549A>G (p.Arg517Gly)
c.1681A>G (p.Arg561Gly)
c.1546A>G (p.Arg516Gly)
n.1842A>G
 gnomAD v4
2g.71551106A>TCA347217428DYSFc.1588A>T (p.Arg530Ter)
c.1642A>T (p.Arg548Ter)
c.1591A>T (p.Arg531Ter)
c.1639A>T (p.Arg547Ter)
c.1684A>T (p.Arg562Ter)
c.1549A>T (p.Arg517Ter)
c.1681A>T (p.Arg561Ter)
c.1546A>T (p.Arg516Ter)
n.1842A>T
2g.71551107G>ACA347217429DYSFc.1589G>A (p.Arg530Lys)
c.1643G>A (p.Arg548Lys)
c.1592G>A (p.Arg531Lys)
c.1640G>A (p.Arg547Lys)
c.1685G>A (p.Arg562Lys)
c.1550G>A (p.Arg517Lys)
c.1682G>A (p.Arg561Lys)
c.1547G>A (p.Arg516Lys)
n.1843G>A
2g.71551107G>CCA347217430DYSFc.1589G>C (p.Arg530Thr)
c.1643G>C (p.Arg548Thr)
c.1592G>C (p.Arg531Thr)
c.1640G>C (p.Arg547Thr)
c.1685G>C (p.Arg562Thr)
c.1550G>C (p.Arg517Thr)
c.1682G>C (p.Arg561Thr)
c.1547G>C (p.Arg516Thr)
n.1843G>C
2g.71551107G>TCA347217431DYSFc.1589G>T (p.Arg530Ile)
c.1643G>T (p.Arg548Ile)
c.1592G>T (p.Arg531Ile)
c.1640G>T (p.Arg547Ile)
c.1685G>T (p.Arg562Ile)
c.1550G>T (p.Arg517Ile)
c.1682G>T (p.Arg561Ile)
c.1547G>T (p.Arg516Ile)
n.1843G>T
2g.71551108A>CCA347217432DYSFc.1590A>C (p.Arg530Ser)
c.1644A>C (p.Arg548Ser)
c.1593A>C (p.Arg531Ser)
c.1641A>C (p.Arg547Ser)
c.1686A>C (p.Arg562Ser)
c.1551A>C (p.Arg517Ser)
c.1683A>C (p.Arg561Ser)
c.1548A>C (p.Arg516Ser)
n.1844A>C
2g.71551108A>GCA426701156DYSFc.1590A>G (p.Arg530=)
c.1644A>G (p.Arg548=)
c.1593A>G (p.Arg531=)
c.1641A>G (p.Arg547=)
c.1686A>G (p.Arg562=)
c.1551A>G (p.Arg517=)
c.1683A>G (p.Arg561=)
c.1548A>G (p.Arg516=)
n.1844A>G
2g.71551108A>TCA347217433DYSFc.1590A>T (p.Arg530Ser)
c.1644A>T (p.Arg548Ser)
c.1593A>T (p.Arg531Ser)
c.1641A>T (p.Arg547Ser)
c.1686A>T (p.Arg562Ser)
c.1551A>T (p.Arg517Ser)
c.1683A>T (p.Arg561Ser)
c.1548A>T (p.Arg516Ser)
n.1844A>T
2g.71551109G>ACA347217434DYSFc.1591G>A (p.Glu531Lys)
c.1645G>A (p.Glu549Lys)
c.1594G>A (p.Glu532Lys)
c.1642G>A (p.Glu548Lys)
c.1687G>A (p.Glu563Lys)
c.1552G>A (p.Glu518Lys)
c.1684G>A (p.Glu562Lys)
c.1549G>A (p.Glu517Lys)
n.1845G>A
2g.71551109G>CCA347217435DYSFc.1591G>C (p.Glu531Gln)
c.1645G>C (p.Glu549Gln)
c.1594G>C (p.Glu532Gln)
c.1642G>C (p.Glu548Gln)
c.1687G>C (p.Glu563Gln)
c.1552G>C (p.Glu518Gln)
c.1684G>C (p.Glu562Gln)
c.1549G>C (p.Glu517Gln)
n.1845G>C
2g.71551109G>TCA347217436DYSFc.1591G>T (p.Glu531Ter)
c.1645G>T (p.Glu549Ter)
c.1594G>T (p.Glu532Ter)
c.1642G>T (p.Glu548Ter)
c.1687G>T (p.Glu563Ter)
c.1552G>T (p.Glu518Ter)
c.1684G>T (p.Glu562Ter)
c.1549G>T (p.Glu517Ter)
n.1845G>T
2g.71551110A=CA1260094735DYSFc.1592A= (p.Glu531=)
c.1646A= (p.Glu549=)
c.1595A= (p.Glu532=)
c.1643A= (p.Glu548=)
c.1688A= (p.Glu563=)
c.1553A= (p.Glu518=)
c.1685A= (p.Glu562=)
c.1550A= (p.Glu517=)
n.1846A=
2g.71551110A>CCA347217437DYSFc.1592A>C (p.Glu531Ala)
c.1646A>C (p.Glu549Ala)
c.1595A>C (p.Glu532Ala)
c.1643A>C (p.Glu548Ala)
c.1688A>C (p.Glu563Ala)
c.1553A>C (p.Glu518Ala)
c.1685A>C (p.Glu562Ala)
c.1550A>C (p.Glu517Ala)
n.1846A>C
2g.71551110A>GCA49792919DYSFc.1592A>G (p.Glu531Gly)
c.1646A>G (p.Glu549Gly)
c.1595A>G (p.Glu532Gly)
c.1643A>G (p.Glu548Gly)
c.1688A>G (p.Glu563Gly)
c.1553A>G (p.Glu518Gly)
c.1685A>G (p.Glu562Gly)
c.1550A>G (p.Glu517Gly)
n.1846A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71551110A>TCA347217438DYSFc.1592A>T (p.Glu531Val)
c.1646A>T (p.Glu549Val)
c.1595A>T (p.Glu532Val)
c.1643A>T (p.Glu548Val)
c.1688A>T (p.Glu563Val)
c.1553A>T (p.Glu518Val)
c.1685A>T (p.Glu562Val)
c.1550A>T (p.Glu517Val)
n.1846A>T
2g.71551111G>ACA1705876DYSFc.1593G>A (p.Glu531=)
c.1647G>A (p.Glu549=)
c.1596G>A (p.Glu532=)
c.1644G>A (p.Glu548=)
c.1689G>A (p.Glu563=)
c.1554G>A (p.Glu518=)
c.1686G>A (p.Glu562=)
c.1551G>A (p.Glu517=)
n.1847G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71551111G>CCA347217439DYSFc.1593G>C (p.Glu531Asp)
c.1647G>C (p.Glu549Asp)
c.1596G>C (p.Glu532Asp)
c.1644G>C (p.Glu548Asp)
c.1689G>C (p.Glu563Asp)
c.1554G>C (p.Glu518Asp)
c.1686G>C (p.Glu562Asp)
c.1551G>C (p.Glu517Asp)
n.1847G>C
2g.71551111G=CA1260094736DYSFc.1593G= (p.Glu531=)
c.1647G= (p.Glu549=)
c.1596G= (p.Glu532=)
c.1644G= (p.Glu548=)
c.1689G= (p.Glu563=)
c.1554G= (p.Glu518=)
c.1686G= (p.Glu562=)
c.1551G= (p.Glu517=)
n.1847G=
2g.71551111G>TCA347217440DYSFc.1593G>T (p.Glu531Asp)
c.1647G>T (p.Glu549Asp)
c.1596G>T (p.Glu532Asp)
c.1644G>T (p.Glu548Asp)
c.1689G>T (p.Glu563Asp)
c.1554G>T (p.Glu518Asp)
c.1686G>T (p.Glu562Asp)
c.1551G>T (p.Glu517Asp)
n.1847G>T
2g.71551112T>ACA347217441DYSFc.1594T>A (p.Phe532Ile)
c.1648T>A (p.Phe550Ile)
c.1597T>A (p.Phe533Ile)
c.1645T>A (p.Phe549Ile)
c.1690T>A (p.Phe564Ile)
c.1555T>A (p.Phe519Ile)
c.1687T>A (p.Phe563Ile)
c.1552T>A (p.Phe518Ile)
n.1848T>A
2g.71551112T>CCA347217442DYSFc.1594T>C (p.Phe532Leu)
c.1648T>C (p.Phe550Leu)
c.1597T>C (p.Phe533Leu)
c.1645T>C (p.Phe549Leu)
c.1690T>C (p.Phe564Leu)
c.1555T>C (p.Phe519Leu)
c.1687T>C (p.Phe563Leu)
c.1552T>C (p.Phe518Leu)
n.1848T>C
2g.71551112T>GCA347217443DYSFc.1594T>G (p.Phe532Val)
c.1648T>G (p.Phe550Val)
c.1597T>G (p.Phe533Val)
c.1645T>G (p.Phe549Val)
c.1690T>G (p.Phe564Val)
c.1555T>G (p.Phe519Val)
c.1687T>G (p.Phe563Val)
c.1552T>G (p.Phe518Val)
n.1848T>G
 dbSNP
2g.71551112T=CA1260094737DYSFc.1594T= (p.Phe532=)
c.1648T= (p.Phe550=)
c.1597T= (p.Phe533=)
c.1645T= (p.Phe549=)
c.1690T= (p.Phe564=)
c.1555T= (p.Phe519=)
c.1687T= (p.Phe563=)
c.1552T= (p.Phe518=)
n.1848T=
2g.71551113dupCA2586969585DYSFc.1595dup (p.Thr533HisfsTer?)
c.1649dup (p.Thr551HisfsTer?)
c.1598dup (p.Thr534HisfsTer?)
c.1646dup (p.Thr550HisfsTer?)
c.1691dup (p.Thr565HisfsTer?)
c.1556dup (p.Thr520HisfsTer?)
c.1688dup (p.Thr564HisfsTer?)
c.1553dup (p.Thr519HisfsTer?)
n.1849dup
2g.71551113T>ACA347217444DYSFc.1595T>A (p.Phe532Tyr)
c.1649T>A (p.Phe550Tyr)
c.1598T>A (p.Phe533Tyr)
c.1646T>A (p.Phe549Tyr)
c.1691T>A (p.Phe564Tyr)
c.1556T>A (p.Phe519Tyr)
c.1688T>A (p.Phe563Tyr)
c.1553T>A (p.Phe518Tyr)
n.1849T>A
2g.71551113T>CCA347217445DYSFc.1595T>C (p.Phe532Ser)
c.1649T>C (p.Phe550Ser)
c.1598T>C (p.Phe533Ser)
c.1646T>C (p.Phe549Ser)
c.1691T>C (p.Phe564Ser)
c.1556T>C (p.Phe519Ser)
c.1688T>C (p.Phe563Ser)
c.1553T>C (p.Phe518Ser)
n.1849T>C
2g.71551113T>GCA347217446DYSFc.1595T>G (p.Phe532Cys)
c.1649T>G (p.Phe550Cys)
c.1598T>G (p.Phe533Cys)
c.1646T>G (p.Phe549Cys)
c.1691T>G (p.Phe564Cys)
c.1556T>G (p.Phe519Cys)
c.1688T>G (p.Phe563Cys)
c.1553T>G (p.Phe518Cys)
n.1849T>G
2g.71551114C>ACA347217447DYSFc.1596C>A (p.Phe532Leu)
c.1650C>A (p.Phe550Leu)
c.1599C>A (p.Phe533Leu)
c.1647C>A (p.Phe549Leu)
c.1692C>A (p.Phe564Leu)
c.1557C>A (p.Phe519Leu)
c.1689C>A (p.Phe563Leu)
c.1554C>A (p.Phe518Leu)
n.1850C>A
2g.71551114C=CA1260094738DYSFc.1596C= (p.Phe532=)
c.1650C= (p.Phe550=)
c.1599C= (p.Phe533=)
c.1647C= (p.Phe549=)
c.1692C= (p.Phe564=)
c.1557C= (p.Phe519=)
c.1689C= (p.Phe563=)
c.1554C= (p.Phe518=)
n.1850C=
2g.71551114C>GCA347217448DYSFc.1596C>G (p.Phe532Leu)
c.1650C>G (p.Phe550Leu)
c.1599C>G (p.Phe533Leu)
c.1647C>G (p.Phe549Leu)
c.1692C>G (p.Phe564Leu)
c.1557C>G (p.Phe519Leu)
c.1689C>G (p.Phe563Leu)
c.1554C>G (p.Phe518Leu)
n.1850C>G
2g.71551114C>TCA1705877DYSFc.1596C>T (p.Phe532=)
c.1650C>T (p.Phe550=)
c.1599C>T (p.Phe533=)
c.1647C>T (p.Phe549=)
c.1692C>T (p.Phe564=)
c.1557C>T (p.Phe519=)
c.1689C>T (p.Phe563=)
c.1554C>T (p.Phe518=)
n.1850C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71551115A>CCA347217451DYSFc.1597A>C (p.Thr533Pro)
c.1651A>C (p.Thr551Pro)
c.1600A>C (p.Thr534Pro)
c.1648A>C (p.Thr550Pro)
c.1693A>C (p.Thr565Pro)
c.1558A>C (p.Thr520Pro)
c.1690A>C (p.Thr564Pro)
c.1555A>C (p.Thr519Pro)
n.1851A>C
2g.71551115A>GCA347217450DYSFc.1597A>G (p.Thr533Ala)
c.1651A>G (p.Thr551Ala)
c.1600A>G (p.Thr534Ala)
c.1648A>G (p.Thr550Ala)
c.1693A>G (p.Thr565Ala)
c.1558A>G (p.Thr520Ala)
c.1690A>G (p.Thr564Ala)
c.1555A>G (p.Thr519Ala)
n.1851A>G
2g.71551115A>TCA347217449DYSFc.1597A>T (p.Thr533Ser)
c.1651A>T (p.Thr551Ser)
c.1600A>T (p.Thr534Ser)
c.1648A>T (p.Thr550Ser)
c.1693A>T (p.Thr565Ser)
c.1558A>T (p.Thr520Ser)
c.1690A>T (p.Thr564Ser)
c.1555A>T (p.Thr519Ser)
n.1851A>T
2g.71551116C>ACA347217452DYSFc.1598C>A (p.Thr533Lys)
c.1652C>A (p.Thr551Lys)
c.1601C>A (p.Thr534Lys)
c.1649C>A (p.Thr550Lys)
c.1694C>A (p.Thr565Lys)
c.1559C>A (p.Thr520Lys)
c.1691C>A (p.Thr564Lys)
c.1556C>A (p.Thr519Lys)
n.1852C>A
2g.71551116C>GCA347217453DYSFc.1598C>G (p.Thr533Arg)
c.1652C>G (p.Thr551Arg)
c.1601C>G (p.Thr534Arg)
c.1649C>G (p.Thr550Arg)
c.1694C>G (p.Thr565Arg)
c.1559C>G (p.Thr520Arg)
c.1691C>G (p.Thr564Arg)
c.1556C>G (p.Thr519Arg)
n.1852C>G
2g.71551116C>TCA347217454DYSFc.1598C>T (p.Thr533Ile)
c.1652C>T (p.Thr551Ile)
c.1601C>T (p.Thr534Ile)
c.1649C>T (p.Thr550Ile)
c.1694C>T (p.Thr565Ile)
c.1559C>T (p.Thr520Ile)
c.1691C>T (p.Thr564Ile)
c.1556C>T (p.Thr519Ile)
n.1852C>T
2g.71551117A>CCA426701157DYSFc.1599A>C (p.Thr533=)
c.1653A>C (p.Thr551=)
c.1602A>C (p.Thr534=)
c.1650A>C (p.Thr550=)
c.1695A>C (p.Thr565=)
c.1560A>C (p.Thr520=)
c.1692A>C (p.Thr564=)
c.1557A>C (p.Thr519=)
n.1853A>C
2g.71551117A>GCA426701158DYSFc.1599A>G (p.Thr533=)
c.1653A>G (p.Thr551=)
c.1602A>G (p.Thr534=)
c.1650A>G (p.Thr550=)
c.1695A>G (p.Thr565=)
c.1560A>G (p.Thr520=)
c.1692A>G (p.Thr564=)
c.1557A>G (p.Thr519=)
n.1853A>G
 dbSNP
2g.71551117A>TCA426701159DYSFc.1599A>T (p.Thr533=)
c.1653A>T (p.Thr551=)
c.1602A>T (p.Thr534=)
c.1650A>T (p.Thr550=)
c.1695A>T (p.Thr565=)
c.1560A>T (p.Thr520=)
c.1692A>T (p.Thr564=)
c.1557A>T (p.Thr519=)
n.1853A>T
2g.71551118G>ACA1705878DYSFc.1600G>A (p.Gly534Ser)
c.1654G>A (p.Gly552Ser)
c.1603G>A (p.Gly535Ser)
c.1651G>A (p.Gly551Ser)
c.1696G>A (p.Gly566Ser)
c.1561G>A (p.Gly521Ser)
c.1693G>A (p.Gly565Ser)
c.1558G>A (p.Gly520Ser)
n.1854G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71551118G>CCA347217455DYSFc.1600G>C (p.Gly534Arg)
c.1654G>C (p.Gly552Arg)
c.1603G>C (p.Gly535Arg)
c.1651G>C (p.Gly551Arg)
c.1696G>C (p.Gly566Arg)
c.1561G>C (p.Gly521Arg)
c.1693G>C (p.Gly565Arg)
c.1558G>C (p.Gly520Arg)
n.1854G>C
2g.71551118G=CA1260094739DYSFc.1600G= (p.Gly534=)
c.1654G= (p.Gly552=)
c.1603G= (p.Gly535=)
c.1651G= (p.Gly551=)
c.1696G= (p.Gly566=)
c.1561G= (p.Gly521=)
c.1693G= (p.Gly565=)
c.1558G= (p.Gly520=)
n.1854G=
2g.71551118G>TCA347217456DYSFc.1600G>T (p.Gly534Cys)
c.1654G>T (p.Gly552Cys)
c.1603G>T (p.Gly535Cys)
c.1651G>T (p.Gly551Cys)
c.1696G>T (p.Gly566Cys)
c.1561G>T (p.Gly521Cys)
c.1693G>T (p.Gly565Cys)
c.1558G>T (p.Gly520Cys)
n.1854G>T
2g.71551119G>ACA347217457DYSFc.1601G>A (p.Gly534Asp)
c.1655G>A (p.Gly552Asp)
c.1604G>A (p.Gly535Asp)
c.1652G>A (p.Gly551Asp)
c.1697G>A (p.Gly566Asp)
c.1562G>A (p.Gly521Asp)
c.1694G>A (p.Gly565Asp)
c.1559G>A (p.Gly520Asp)
n.1855G>A
2g.71551119G>CCA347217458DYSFc.1601G>C (p.Gly534Ala)
c.1655G>C (p.Gly552Ala)
c.1604G>C (p.Gly535Ala)
c.1652G>C (p.Gly551Ala)
c.1697G>C (p.Gly566Ala)
c.1562G>C (p.Gly521Ala)
c.1694G>C (p.Gly565Ala)
c.1559G>C (p.Gly520Ala)
n.1855G>C
 dbSNP gnomAD v2 gnomAD v4
2g.71551119G=CA1260094740DYSFc.1601G= (p.Gly534=)
c.1655G= (p.Gly552=)
c.1604G= (p.Gly535=)
c.1652G= (p.Gly551=)
c.1697G= (p.Gly566=)
c.1562G= (p.Gly521=)
c.1694G= (p.Gly565=)
c.1559G= (p.Gly520=)
n.1855G=
2g.71551119G>TCA347217459DYSFc.1601G>T (p.Gly534Val)
c.1655G>T (p.Gly552Val)
c.1604G>T (p.Gly535Val)
c.1652G>T (p.Gly551Val)
c.1697G>T (p.Gly566Val)
c.1562G>T (p.Gly521Val)
c.1694G>T (p.Gly565Val)
c.1559G>T (p.Gly520Val)
n.1855G>T
 gnomAD v4
2g.71551120C>ACA426701160DYSFc.1602C>A (p.Gly534=)
c.1656C>A (p.Gly552=)
c.1605C>A (p.Gly535=)
c.1653C>A (p.Gly551=)
c.1698C>A (p.Gly566=)
c.1563C>A (p.Gly521=)
c.1695C>A (p.Gly565=)
c.1560C>A (p.Gly520=)
n.1856C>A
2g.71551120C=CA1260094741DYSFc.1602C= (p.Gly534=)
c.1656C= (p.Gly552=)
c.1605C= (p.Gly535=)
c.1653C= (p.Gly551=)
c.1698C= (p.Gly566=)
c.1563C= (p.Gly521=)
c.1695C= (p.Gly565=)
c.1560C= (p.Gly520=)
n.1856C=
2g.71551120C>GCA426701161DYSFc.1602C>G (p.Gly534=)
c.1656C>G (p.Gly552=)
c.1605C>G (p.Gly535=)
c.1653C>G (p.Gly551=)
c.1698C>G (p.Gly566=)
c.1563C>G (p.Gly521=)
c.1695C>G (p.Gly565=)
c.1560C>G (p.Gly520=)
n.1856C>G
2g.71551120C>TCA426701162DYSFc.1602C>T (p.Gly534=)
c.1656C>T (p.Gly552=)
c.1605C>T (p.Gly535=)
c.1653C>T (p.Gly551=)
c.1698C>T (p.Gly566=)
c.1563C>T (p.Gly521=)
c.1695C>T (p.Gly565=)
c.1560C>T (p.Gly520=)
n.1856C>T
 dbSNP gnomAD v3 gnomAD v4
2g.71551121T>ACA347217460DYSFc.1603T>A (p.Phe535Ile)
c.1657T>A (p.Phe553Ile)
c.1606T>A (p.Phe536Ile)
c.1654T>A (p.Phe552Ile)
c.1699T>A (p.Phe567Ile)
c.1564T>A (p.Phe522Ile)
c.1696T>A (p.Phe566Ile)
c.1561T>A (p.Phe521Ile)
n.1857T>A
2g.71551121T>CCA347217461DYSFc.1603T>C (p.Phe535Leu)
c.1657T>C (p.Phe553Leu)
c.1606T>C (p.Phe536Leu)
c.1654T>C (p.Phe552Leu)
c.1699T>C (p.Phe567Leu)
c.1564T>C (p.Phe522Leu)
c.1696T>C (p.Phe566Leu)
c.1561T>C (p.Phe521Leu)
n.1857T>C
2g.71551121T>GCA347217462DYSFc.1603T>G (p.Phe535Val)
c.1657T>G (p.Phe553Val)
c.1606T>G (p.Phe536Val)
c.1654T>G (p.Phe552Val)
c.1699T>G (p.Phe567Val)
c.1564T>G (p.Phe522Val)
c.1696T>G (p.Phe566Val)
c.1561T>G (p.Phe521Val)
n.1857T>G
2g.71551122T>ACA347217463DYSFc.1604T>A (p.Phe535Tyr)
c.1658T>A (p.Phe553Tyr)
c.1607T>A (p.Phe536Tyr)
c.1655T>A (p.Phe552Tyr)
c.1700T>A (p.Phe567Tyr)
c.1565T>A (p.Phe522Tyr)
c.1697T>A (p.Phe566Tyr)
c.1562T>A (p.Phe521Tyr)
n.1858T>A
2g.71551122T>CCA347217465DYSFc.1604T>C (p.Phe535Ser)
c.1658T>C (p.Phe553Ser)
c.1607T>C (p.Phe536Ser)
c.1655T>C (p.Phe552Ser)
c.1700T>C (p.Phe567Ser)
c.1565T>C (p.Phe522Ser)
c.1697T>C (p.Phe566Ser)
c.1562T>C (p.Phe521Ser)
n.1858T>C
2g.71551122T>GCA347217464DYSFc.1604T>G (p.Phe535Cys)
c.1658T>G (p.Phe553Cys)
c.1607T>G (p.Phe536Cys)
c.1655T>G (p.Phe552Cys)
c.1700T>G (p.Phe567Cys)
c.1565T>G (p.Phe522Cys)
c.1697T>G (p.Phe566Cys)
c.1562T>G (p.Phe521Cys)
n.1858T>G
2g.71551123C>ACA347217466DYSFc.1605C>A (p.Phe535Leu)
c.1659C>A (p.Phe553Leu)
c.1608C>A (p.Phe536Leu)
c.1656C>A (p.Phe552Leu)
c.1701C>A (p.Phe567Leu)
c.1566C>A (p.Phe522Leu)
c.1698C>A (p.Phe566Leu)
c.1563C>A (p.Phe521Leu)
n.1859C>A
2g.71551123C=CA1260094742DYSFc.1605C= (p.Phe535=)
c.1659C= (p.Phe553=)
c.1608C= (p.Phe536=)
c.1656C= (p.Phe552=)
c.1701C= (p.Phe567=)
c.1566C= (p.Phe522=)
c.1698C= (p.Phe566=)
c.1563C= (p.Phe521=)
n.1859C=
2g.71551123C>GCA347217467DYSFc.1605C>G (p.Phe535Leu)
c.1659C>G (p.Phe553Leu)
c.1608C>G (p.Phe536Leu)
c.1656C>G (p.Phe552Leu)
c.1701C>G (p.Phe567Leu)
c.1566C>G (p.Phe522Leu)
c.1698C>G (p.Phe566Leu)
c.1563C>G (p.Phe521Leu)
n.1859C>G
2g.71551123C>TCA426701163DYSFc.1605C>T (p.Phe535=)
c.1659C>T (p.Phe553=)
c.1608C>T (p.Phe536=)
c.1656C>T (p.Phe552=)
c.1701C>T (p.Phe567=)
c.1566C>T (p.Phe522=)
c.1698C>T (p.Phe566=)
c.1563C>T (p.Phe521=)
n.1859C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71551124C>ACA347217468DYSFc.1606C>A (p.Pro536Thr)
c.1660C>A (p.Pro554Thr)
c.1609C>A (p.Pro537Thr)
c.1657C>A (p.Pro553Thr)
c.1702C>A (p.Pro568Thr)
c.1567C>A (p.Pro523Thr)
c.1699C>A (p.Pro567Thr)
c.1564C>A (p.Pro522Thr)
n.1860C>A
2g.71551124C>GCA347217469DYSFc.1606C>G (p.Pro536Ala)
c.1660C>G (p.Pro554Ala)
c.1609C>G (p.Pro537Ala)
c.1657C>G (p.Pro553Ala)
c.1702C>G (p.Pro568Ala)
c.1567C>G (p.Pro523Ala)
c.1699C>G (p.Pro567Ala)
c.1564C>G (p.Pro522Ala)
n.1860C>G
2g.71551124C>TCA347217470DYSFc.1606C>T (p.Pro536Ser)
c.1660C>T (p.Pro554Ser)
c.1609C>T (p.Pro537Ser)
c.1657C>T (p.Pro553Ser)
c.1702C>T (p.Pro568Ser)
c.1567C>T (p.Pro523Ser)
c.1699C>T (p.Pro567Ser)
c.1564C>T (p.Pro522Ser)
n.1860C>T
2g.71551125C>ACA347217471DYSFc.1607C>A (p.Pro536Gln)
c.1661C>A (p.Pro554Gln)
c.1610C>A (p.Pro537Gln)
c.1658C>A (p.Pro553Gln)
c.1703C>A (p.Pro568Gln)
c.1568C>A (p.Pro523Gln)
c.1700C>A (p.Pro567Gln)
c.1565C>A (p.Pro522Gln)
n.1861C>A
2g.71551125C>GCA347217472DYSFc.1607C>G (p.Pro536Arg)
c.1661C>G (p.Pro554Arg)
c.1610C>G (p.Pro537Arg)
c.1658C>G (p.Pro553Arg)
c.1703C>G (p.Pro568Arg)
c.1568C>G (p.Pro523Arg)
c.1700C>G (p.Pro567Arg)
c.1565C>G (p.Pro522Arg)
n.1861C>G
2g.71551125C>TCA347217473DYSFc.1607C>T (p.Pro536Leu)
c.1661C>T (p.Pro554Leu)
c.1610C>T (p.Pro537Leu)
c.1658C>T (p.Pro553Leu)
c.1703C>T (p.Pro568Leu)
c.1568C>T (p.Pro523Leu)
c.1700C>T (p.Pro567Leu)
c.1565C>T (p.Pro522Leu)
n.1861C>T
2g.71551126A=CA1260094743DYSFc.1608A= (p.Pro536=)
c.1662A= (p.Pro554=)
c.1611A= (p.Pro537=)
c.1659A= (p.Pro553=)
c.1704A= (p.Pro568=)
c.1569A= (p.Pro523=)
c.1701A= (p.Pro567=)
c.1566A= (p.Pro522=)
n.1862A=
2g.71551126A>CCA426701164DYSFc.1608A>C (p.Pro536=)
c.1662A>C (p.Pro554=)
c.1611A>C (p.Pro537=)
c.1659A>C (p.Pro553=)
c.1704A>C (p.Pro568=)
c.1569A>C (p.Pro523=)
c.1701A>C (p.Pro567=)
c.1566A>C (p.Pro522=)
n.1862A>C
 dbSNP
2g.71551126A>GCA426701166DYSFc.1608A>G (p.Pro536=)
c.1662A>G (p.Pro554=)
c.1611A>G (p.Pro537=)
c.1659A>G (p.Pro553=)
c.1704A>G (p.Pro568=)
c.1569A>G (p.Pro523=)
c.1701A>G (p.Pro567=)
c.1566A>G (p.Pro522=)
n.1862A>G
2g.71551126A>TCA426701165DYSFc.1608A>T (p.Pro536=)
c.1662A>T (p.Pro554=)
c.1611A>T (p.Pro537=)
c.1659A>T (p.Pro553=)
c.1704A>T (p.Pro568=)
c.1569A>T (p.Pro523=)
c.1701A>T (p.Pro567=)
c.1566A>T (p.Pro522=)
n.1862A>T
2g.71551127G>ACA347217474DYSFc.1609G>A (p.Asp537Asn)
c.1663G>A (p.Asp555Asn)
c.1612G>A (p.Asp538Asn)
c.1660G>A (p.Asp554Asn)
c.1705G>A (p.Asp569Asn)
c.1570G>A (p.Asp524Asn)
c.1702G>A (p.Asp568Asn)
c.1567G>A (p.Asp523Asn)
n.1863G>A
2g.71551127G>CCA347217475DYSFc.1609G>C (p.Asp537His)
c.1663G>C (p.Asp555His)
c.1612G>C (p.Asp538His)
c.1660G>C (p.Asp554His)
c.1705G>C (p.Asp569His)
c.1570G>C (p.Asp524His)
c.1702G>C (p.Asp568His)
c.1567G>C (p.Asp523His)
n.1863G>C
2g.71551127G>TCA347217476DYSFc.1609G>T (p.Asp537Tyr)
c.1663G>T (p.Asp555Tyr)
c.1612G>T (p.Asp538Tyr)
c.1660G>T (p.Asp554Tyr)
c.1705G>T (p.Asp569Tyr)
c.1570G>T (p.Asp524Tyr)
c.1702G>T (p.Asp568Tyr)
c.1567G>T (p.Asp523Tyr)
n.1863G>T
2g.71551128A=CA1260094744DYSFc.1610A= (p.Asp537=)
c.1664A= (p.Asp555=)
c.1613A= (p.Asp538=)
c.1661A= (p.Asp554=)
c.1706A= (p.Asp569=)
c.1571A= (p.Asp524=)
c.1703A= (p.Asp568=)
c.1568A= (p.Asp523=)
n.1864A=
2g.71551128A>CCA347217477DYSFc.1610A>C (p.Asp537Ala)
c.1664A>C (p.Asp555Ala)
c.1613A>C (p.Asp538Ala)
c.1661A>C (p.Asp554Ala)
c.1706A>C (p.Asp569Ala)
c.1571A>C (p.Asp524Ala)
c.1703A>C (p.Asp568Ala)
c.1568A>C (p.Asp523Ala)
n.1864A>C
2g.71551128A>GCA347217478DYSFc.1610A>G (p.Asp537Gly)
c.1664A>G (p.Asp555Gly)
c.1613A>G (p.Asp538Gly)
c.1661A>G (p.Asp554Gly)
c.1706A>G (p.Asp569Gly)
c.1571A>G (p.Asp524Gly)
c.1703A>G (p.Asp568Gly)
c.1568A>G (p.Asp523Gly)
n.1864A>G
2g.71551128A>TCA347217479DYSFc.1610A>T (p.Asp537Val)
c.1664A>T (p.Asp555Val)
c.1613A>T (p.Asp538Val)
c.1661A>T (p.Asp554Val)
c.1706A>T (p.Asp569Val)
c.1571A>T (p.Asp524Val)
c.1703A>T (p.Asp568Val)
c.1568A>T (p.Asp523Val)
n.1864A>T
 dbSNP
2g.71551129C>ACA347217481DYSFc.1611C>A (p.Asp537Glu)
c.1665C>A (p.Asp555Glu)
c.1614C>A (p.Asp538Glu)
c.1662C>A (p.Asp554Glu)
c.1707C>A (p.Asp569Glu)
c.1572C>A (p.Asp524Glu)
c.1704C>A (p.Asp568Glu)
c.1569C>A (p.Asp523Glu)
n.1865C>A
2g.71551129C>GCA347217480DYSFc.1611C>G (p.Asp537Glu)
c.1665C>G (p.Asp555Glu)
c.1614C>G (p.Asp538Glu)
c.1662C>G (p.Asp554Glu)
c.1707C>G (p.Asp569Glu)
c.1572C>G (p.Asp524Glu)
c.1704C>G (p.Asp568Glu)
c.1569C>G (p.Asp523Glu)
n.1865C>G
2g.71551129C>TCA426701167DYSFc.1611C>T (p.Asp537=)
c.1665C>T (p.Asp555=)
c.1614C>T (p.Asp538=)
c.1662C>T (p.Asp554=)
c.1707C>T (p.Asp569=)
c.1572C>T (p.Asp524=)
c.1704C>T (p.Asp568=)
c.1569C>T (p.Asp523=)
n.1865C>T
2g.71551130C>ACA1705879DYSFc.1612C>A (p.Pro538Thr)
c.1666C>A (p.Pro556Thr)
c.1615C>A (p.Pro539Thr)
c.1663C>A (p.Pro555Thr)
c.1708C>A (p.Pro570Thr)
c.1573C>A (p.Pro525Thr)
c.1705C>A (p.Pro569Thr)
c.1570C>A (p.Pro524Thr)
n.1866C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71551130C=CA1260094745DYSFc.1612C= (p.Pro538=)
c.1666C= (p.Pro556=)
c.1615C= (p.Pro539=)
c.1663C= (p.Pro555=)
c.1708C= (p.Pro570=)
c.1573C= (p.Pro525=)
c.1705C= (p.Pro569=)
c.1570C= (p.Pro524=)
n.1866C=
2g.71551130C>GCA347217482DYSFc.1612C>G (p.Pro538Ala)
c.1666C>G (p.Pro556Ala)
c.1615C>G (p.Pro539Ala)
c.1663C>G (p.Pro555Ala)
c.1708C>G (p.Pro570Ala)
c.1573C>G (p.Pro525Ala)
c.1705C>G (p.Pro569Ala)
c.1570C>G (p.Pro524Ala)
n.1866C>G
 dbSNP gnomAD v2 gnomAD v4
2g.71551130C>TCA347217483DYSFc.1612C>T (p.Pro538Ser)
c.1666C>T (p.Pro556Ser)
c.1615C>T (p.Pro539Ser)
c.1663C>T (p.Pro555Ser)
c.1708C>T (p.Pro570Ser)
c.1573C>T (p.Pro525Ser)
c.1705C>T (p.Pro569Ser)
c.1570C>T (p.Pro524Ser)
n.1866C>T
 gnomAD v4
2g.71551131C>ACA347217484DYSFc.1613C>A (p.Pro538His)
c.1667C>A (p.Pro556His)
c.1616C>A (p.Pro539His)
c.1664C>A (p.Pro555His)
c.1709C>A (p.Pro570His)
c.1574C>A (p.Pro525His)
c.1706C>A (p.Pro569His)
c.1571C>A (p.Pro524His)
n.1867C>A
2g.71551131C=CA1260094746DYSFc.1613C= (p.Pro538=)
c.1667C= (p.Pro556=)
c.1616C= (p.Pro539=)
c.1664C= (p.Pro555=)
c.1709C= (p.Pro570=)
c.1574C= (p.Pro525=)
c.1706C= (p.Pro569=)
c.1571C= (p.Pro524=)
n.1867C=
2g.71551131C>GCA347217485DYSFc.1613C>G (p.Pro538Arg)
c.1667C>G (p.Pro556Arg)
c.1616C>G (p.Pro539Arg)
c.1664C>G (p.Pro555Arg)
c.1709C>G (p.Pro570Arg)
c.1574C>G (p.Pro525Arg)
c.1706C>G (p.Pro569Arg)
c.1571C>G (p.Pro524Arg)
n.1867C>G
2g.71551131C>TCA1705880DYSFc.1613C>T (p.Pro538Leu)
c.1667C>T (p.Pro556Leu)
c.1616C>T (p.Pro539Leu)
c.1664C>T (p.Pro555Leu)
c.1709C>T (p.Pro570Leu)
c.1574C>T (p.Pro525Leu)
c.1706C>T (p.Pro569Leu)
c.1571C>T (p.Pro524Leu)
n.1867C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71551132C>ACA1705881DYSFc.1614C>A (p.Pro538=)
c.1668C>A (p.Pro556=)
c.1617C>A (p.Pro539=)
c.1665C>A (p.Pro555=)
c.1710C>A (p.Pro570=)
c.1575C>A (p.Pro525=)
c.1707C>A (p.Pro569=)
c.1572C>A (p.Pro524=)
n.1868C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71551132C=CA1260094747DYSFc.1614C= (p.Pro538=)
c.1668C= (p.Pro556=)
c.1617C= (p.Pro539=)
c.1665C= (p.Pro555=)
c.1710C= (p.Pro570=)
c.1575C= (p.Pro525=)
c.1707C= (p.Pro569=)
c.1572C= (p.Pro524=)
n.1868C=
2g.71551132C>GCA426701168DYSFc.1614C>G (p.Pro538=)
c.1668C>G (p.Pro556=)
c.1617C>G (p.Pro539=)
c.1665C>G (p.Pro555=)
c.1710C>G (p.Pro570=)
c.1575C>G (p.Pro525=)
c.1707C>G (p.Pro569=)
c.1572C>G (p.Pro524=)
n.1868C>G
2g.71551132C>TCA426701169DYSFc.1614C>T (p.Pro538=)
c.1668C>T (p.Pro556=)
c.1617C>T (p.Pro539=)
c.1665C>T (p.Pro555=)
c.1710C>T (p.Pro570=)
c.1575C>T (p.Pro525=)
c.1707C>T (p.Pro569=)
c.1572C>T (p.Pro524=)
n.1868C>T
2g.71551133delCA2580067803DYSFc.1615del (p.Tyr539ThrfsTer?)
c.1669del (p.Tyr557ThrfsTer?)
c.1618del (p.Tyr540ThrfsTer?)
c.1666del (p.Tyr556ThrfsTer?)
c.1711del (p.Tyr571ThrfsTer?)
c.1576del (p.Tyr526ThrfsTer?)
c.1708del (p.Tyr570ThrfsTer?)
c.1573del (p.Tyr525ThrfsTer?)
n.1869del
 ClinVar
2g.71551133T>ACA347217486DYSFc.1615T>A (p.Tyr539Asn)
c.1669T>A (p.Tyr557Asn)
c.1618T>A (p.Tyr540Asn)
c.1666T>A (p.Tyr556Asn)
c.1711T>A (p.Tyr571Asn)
c.1576T>A (p.Tyr526Asn)
c.1708T>A (p.Tyr570Asn)
c.1573T>A (p.Tyr525Asn)
n.1869T>A
2g.71551133T>CCA347217487DYSFc.1615T>C (p.Tyr539His)
c.1669T>C (p.Tyr557His)
c.1618T>C (p.Tyr540His)
c.1666T>C (p.Tyr556His)
c.1711T>C (p.Tyr571His)
c.1576T>C (p.Tyr526His)
c.1708T>C (p.Tyr570His)
c.1573T>C (p.Tyr525His)
n.1869T>C
 dbSNP
2g.71551133T>GCA347217488DYSFc.1615T>G (p.Tyr539Asp)
c.1669T>G (p.Tyr557Asp)
c.1618T>G (p.Tyr540Asp)
c.1666T>G (p.Tyr556Asp)
c.1711T>G (p.Tyr571Asp)
c.1576T>G (p.Tyr526Asp)
c.1708T>G (p.Tyr570Asp)
c.1573T>G (p.Tyr525Asp)
n.1869T>G
2g.71551133T=CA1260094748DYSFc.1615T= (p.Tyr539=)
c.1669T= (p.Tyr557=)
c.1618T= (p.Tyr540=)
c.1666T= (p.Tyr556=)
c.1711T= (p.Tyr571=)
c.1576T= (p.Tyr526=)
c.1708T= (p.Tyr570=)
c.1573T= (p.Tyr525=)
n.1869T=
2g.71551134A>CCA347217489DYSFc.1616A>C (p.Tyr539Ser)
c.1670A>C (p.Tyr557Ser)
c.1619A>C (p.Tyr540Ser)
c.1667A>C (p.Tyr556Ser)
c.1712A>C (p.Tyr571Ser)
c.1577A>C (p.Tyr526Ser)
c.1709A>C (p.Tyr570Ser)
c.1574A>C (p.Tyr525Ser)
n.1870A>C
2g.71551134A>GCA347217490DYSFc.1616A>G (p.Tyr539Cys)
c.1670A>G (p.Tyr557Cys)
c.1619A>G (p.Tyr540Cys)
c.1667A>G (p.Tyr556Cys)
c.1712A>G (p.Tyr571Cys)
c.1577A>G (p.Tyr526Cys)
c.1709A>G (p.Tyr570Cys)
c.1574A>G (p.Tyr525Cys)
n.1870A>G
2g.71551134A>TCA347217491DYSFc.1616A>T (p.Tyr539Phe)
c.1670A>T (p.Tyr557Phe)
c.1619A>T (p.Tyr540Phe)
c.1667A>T (p.Tyr556Phe)
c.1712A>T (p.Tyr571Phe)
c.1577A>T (p.Tyr526Phe)
c.1709A>T (p.Tyr570Phe)
c.1574A>T (p.Tyr525Phe)
n.1870A>T
2g.71551135C>ACA347217492DYSFc.1617C>A (p.Tyr539Ter)
c.1671C>A (p.Tyr557Ter)
c.1620C>A (p.Tyr540Ter)
c.1668C>A (p.Tyr556Ter)
c.1713C>A (p.Tyr571Ter)
c.1578C>A (p.Tyr526Ter)
c.1710C>A (p.Tyr570Ter)
c.1575C>A (p.Tyr525Ter)
n.1871C>A
2g.71551135C>GCA347217493DYSFc.1617C>G (p.Tyr539Ter)
c.1671C>G (p.Tyr557Ter)
c.1620C>G (p.Tyr540Ter)
c.1668C>G (p.Tyr556Ter)
c.1713C>G (p.Tyr571Ter)
c.1578C>G (p.Tyr526Ter)
c.1710C>G (p.Tyr570Ter)
c.1575C>G (p.Tyr525Ter)
n.1871C>G
2g.71551135C>TCA426701170DYSFc.1617C>T (p.Tyr539=)
c.1671C>T (p.Tyr557=)
c.1620C>T (p.Tyr540=)
c.1668C>T (p.Tyr556=)
c.1713C>T (p.Tyr571=)
c.1578C>T (p.Tyr526=)
c.1710C>T (p.Tyr570=)
c.1575C>T (p.Tyr525=)
n.1871C>T
 ClinVar
2g.71551136A>CCA347217494DYSFc.1618A>C (p.Thr540Pro)
c.1672A>C (p.Thr558Pro)
c.1621A>C (p.Thr541Pro)
c.1669A>C (p.Thr557Pro)
c.1714A>C (p.Thr572Pro)
c.1579A>C (p.Thr527Pro)
c.1711A>C (p.Thr571Pro)
c.1576A>C (p.Thr526Pro)
n.1872A>C
2g.71551136A>GCA347217495DYSFc.1618A>G (p.Thr540Ala)
c.1672A>G (p.Thr558Ala)
c.1621A>G (p.Thr541Ala)
c.1669A>G (p.Thr557Ala)
c.1714A>G (p.Thr572Ala)
c.1579A>G (p.Thr527Ala)
c.1711A>G (p.Thr571Ala)
c.1576A>G (p.Thr526Ala)
n.1872A>G
2g.71551136A>TCA347217496DYSFc.1618A>T (p.Thr540Ser)
c.1672A>T (p.Thr558Ser)
c.1621A>T (p.Thr541Ser)
c.1669A>T (p.Thr557Ser)
c.1714A>T (p.Thr572Ser)
c.1579A>T (p.Thr527Ser)
c.1711A>T (p.Thr571Ser)
c.1576A>T (p.Thr526Ser)
n.1872A>T
2g.71551137C>ACA347217497DYSFc.1619C>A (p.Thr540Lys)
c.1673C>A (p.Thr558Lys)
c.1622C>A (p.Thr541Lys)
c.1670C>A (p.Thr557Lys)
c.1715C>A (p.Thr572Lys)
c.1580C>A (p.Thr527Lys)
c.1712C>A (p.Thr571Lys)
c.1577C>A (p.Thr526Lys)
n.1873C>A
2g.71551137C>GCA347217498DYSFc.1619C>G (p.Thr540Arg)
c.1673C>G (p.Thr558Arg)
c.1622C>G (p.Thr541Arg)
c.1670C>G (p.Thr557Arg)
c.1715C>G (p.Thr572Arg)
c.1580C>G (p.Thr527Arg)
c.1712C>G (p.Thr571Arg)
c.1577C>G (p.Thr526Arg)
n.1873C>G
2g.71551137C>TCA347217499DYSFc.1619C>T (p.Thr540Ile)
c.1673C>T (p.Thr558Ile)
c.1622C>T (p.Thr541Ile)
c.1670C>T (p.Thr557Ile)
c.1715C>T (p.Thr572Ile)
c.1580C>T (p.Thr527Ile)
c.1712C>T (p.Thr571Ile)
c.1577C>T (p.Thr526Ile)
n.1873C>T
2g.71551137_71551138delinsCACA1260094749DYSFc.1619_1620delinsCA (p.Thr540=)
c.1673_1674delinsCA (p.Thr558=)
c.1622_1623delinsCA (p.Thr541=)
c.1670_1671delinsCA (p.Thr557=)
c.1715_1716delinsCA (p.Thr572=)
c.1580_1581delinsCA (p.Thr527=)
c.1712_1713delinsCA (p.Thr571=)
c.1577_1578delinsCA (p.Thr526=)
n.1873_1874delinsCA
2g.71551138delCA426701173DYSFc.1620del (p.Glu541SerfsTer?)
c.1674del (p.Glu559SerfsTer?)
c.1623del (p.Glu542SerfsTer?)
c.1671del (p.Glu558SerfsTer?)
c.1716del (p.Glu573SerfsTer?)
c.1581del (p.Glu528SerfsTer?)
c.1713del (p.Glu572SerfsTer?)
c.1578del (p.Glu527SerfsTer?)
n.1874del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71551138A=CA1260094750DYSFc.1620A= (p.Thr540=)
c.1674A= (p.Thr558=)
c.1623A= (p.Thr541=)
c.1671A= (p.Thr557=)
c.1716A= (p.Thr572=)
c.1581A= (p.Thr527=)
c.1713A= (p.Thr571=)
c.1578A= (p.Thr526=)
n.1874A=
2g.71551138A>CCA426701171DYSFc.1620A>C (p.Thr540=)
c.1674A>C (p.Thr558=)
c.1623A>C (p.Thr541=)
c.1671A>C (p.Thr557=)
c.1716A>C (p.Thr572=)
c.1581A>C (p.Thr527=)
c.1713A>C (p.Thr571=)
c.1578A>C (p.Thr526=)
n.1874A>C
 ClinVar
2g.71551138A>GCA1705882DYSFc.1620A>G (p.Thr540=)
c.1674A>G (p.Thr558=)
c.1623A>G (p.Thr541=)
c.1671A>G (p.Thr557=)
c.1716A>G (p.Thr572=)
c.1581A>G (p.Thr527=)
c.1713A>G (p.Thr571=)
c.1578A>G (p.Thr526=)
n.1874A>G
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.71551138A>TCA426701172DYSFc.1620A>T (p.Thr540=)
c.1674A>T (p.Thr558=)
c.1623A>T (p.Thr541=)
c.1671A>T (p.Thr557=)
c.1716A>T (p.Thr572=)
c.1581A>T (p.Thr527=)
c.1713A>T (p.Thr571=)
c.1578A>T (p.Thr526=)
n.1874A>T
2g.71551139G>ACA347217500DYSFc.1621G>A (p.Glu541Lys)
c.1675G>A (p.Glu559Lys)
c.1624G>A (p.Glu542Lys)
c.1672G>A (p.Glu558Lys)
c.1717G>A (p.Glu573Lys)
c.1582G>A (p.Glu528Lys)
c.1714G>A (p.Glu572Lys)
c.1579G>A (p.Glu527Lys)
n.1875G>A
2g.71551139G>CCA347217501DYSFc.1621G>C (p.Glu541Gln)
c.1675G>C (p.Glu559Gln)
c.1624G>C (p.Glu542Gln)
c.1672G>C (p.Glu558Gln)
c.1717G>C (p.Glu573Gln)
c.1582G>C (p.Glu528Gln)
c.1714G>C (p.Glu572Gln)
c.1579G>C (p.Glu527Gln)
n.1875G>C
2g.71551139G>TCA347217502DYSFc.1621G>T (p.Glu541Ter)
c.1675G>T (p.Glu559Ter)
c.1624G>T (p.Glu542Ter)
c.1672G>T (p.Glu558Ter)
c.1717G>T (p.Glu573Ter)
c.1582G>T (p.Glu528Ter)
c.1714G>T (p.Glu572Ter)
c.1579G>T (p.Glu527Ter)
n.1875G>T
2g.71551140A=CA1260094751DYSFc.1622A= (p.Glu541=)
c.1676A= (p.Glu559=)
c.1625A= (p.Glu542=)
c.1673A= (p.Glu558=)
c.1718A= (p.Glu573=)
c.1583A= (p.Glu528=)
c.1715A= (p.Glu572=)
c.1580A= (p.Glu527=)
n.1876A=
2g.71551140A>CCA347217503DYSFc.1622A>C (p.Glu541Ala)
c.1676A>C (p.Glu559Ala)
c.1625A>C (p.Glu542Ala)
c.1673A>C (p.Glu558Ala)
c.1718A>C (p.Glu573Ala)
c.1583A>C (p.Glu528Ala)
c.1715A>C (p.Glu572Ala)
c.1580A>C (p.Glu527Ala)
n.1876A>C
 gnomAD v4
2g.71551140A>GCA1705883DYSFc.1622A>G (p.Glu541Gly)
c.1676A>G (p.Glu559Gly)
c.1625A>G (p.Glu542Gly)
c.1673A>G (p.Glu558Gly)
c.1718A>G (p.Glu573Gly)
c.1583A>G (p.Glu528Gly)
c.1715A>G (p.Glu572Gly)
c.1580A>G (p.Glu527Gly)
n.1876A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71551140A>TCA347217504DYSFc.1622A>T (p.Glu541Val)
c.1676A>T (p.Glu559Val)
c.1625A>T (p.Glu542Val)
c.1673A>T (p.Glu558Val)
c.1718A>T (p.Glu573Val)
c.1583A>T (p.Glu528Val)
c.1715A>T (p.Glu572Val)
c.1580A>T (p.Glu527Val)
n.1876A>T
 gnomAD v4
2g.71551141G>ACA426701174DYSFc.1623G>A (p.Glu541=)
c.1677G>A (p.Glu559=)
c.1626G>A (p.Glu542=)
c.1674G>A (p.Glu558=)
c.1719G>A (p.Glu573=)
c.1584G>A (p.Glu528=)
c.1716G>A (p.Glu572=)
c.1581G>A (p.Glu527=)
n.1877G>A
2g.71551141G>CCA347217505DYSFc.1623G>C (p.Glu541Asp)
c.1677G>C (p.Glu559Asp)
c.1626G>C (p.Glu542Asp)
c.1674G>C (p.Glu558Asp)
c.1719G>C (p.Glu573Asp)
c.1584G>C (p.Glu528Asp)
c.1716G>C (p.Glu572Asp)
c.1581G>C (p.Glu527Asp)
n.1877G>C
2g.71551141G>TCA347217506DYSFc.1623G>T (p.Glu541Asp)
c.1677G>T (p.Glu559Asp)
c.1626G>T (p.Glu542Asp)
c.1674G>T (p.Glu558Asp)
c.1719G>T (p.Glu573Asp)
c.1584G>T (p.Glu528Asp)
c.1716G>T (p.Glu572Asp)
c.1581G>T (p.Glu527Asp)
n.1877G>T
2g.71551142C>ACA347217507DYSFc.1624C>A (p.Leu542Ile)
c.1678C>A (p.Leu560Ile)
c.1627C>A (p.Leu543Ile)
c.1675C>A (p.Leu559Ile)
c.1720C>A (p.Leu574Ile)
c.1585C>A (p.Leu529Ile)
c.1717C>A (p.Leu573Ile)
c.1582C>A (p.Leu528Ile)
n.1878C>A
2g.71551142C>GCA347217508DYSFc.1624C>G (p.Leu542Val)
c.1678C>G (p.Leu560Val)
c.1627C>G (p.Leu543Val)
c.1675C>G (p.Leu559Val)
c.1720C>G (p.Leu574Val)
c.1585C>G (p.Leu529Val)
c.1717C>G (p.Leu573Val)
c.1582C>G (p.Leu528Val)
n.1878C>G
 ClinVar
2g.71551142C>TCA347217509DYSFc.1624C>T (p.Leu542Phe)
c.1678C>T (p.Leu560Phe)
c.1627C>T (p.Leu543Phe)
c.1675C>T (p.Leu559Phe)
c.1720C>T (p.Leu574Phe)
c.1585C>T (p.Leu529Phe)
c.1717C>T (p.Leu573Phe)
c.1582C>T (p.Leu528Phe)
n.1878C>T
 gnomAD v4
2g.71551143T>ACA347217510DYSFc.1625T>A (p.Leu542His)
c.1679T>A (p.Leu560His)
c.1628T>A (p.Leu543His)
c.1676T>A (p.Leu559His)
c.1721T>A (p.Leu574His)
c.1586T>A (p.Leu529His)
c.1718T>A (p.Leu573His)
c.1583T>A (p.Leu528His)
n.1879T>A
2g.71551143T>CCA347217511DYSFc.1625T>C (p.Leu542Pro)
c.1679T>C (p.Leu560Pro)
c.1628T>C (p.Leu543Pro)
c.1676T>C (p.Leu559Pro)
c.1721T>C (p.Leu574Pro)
c.1586T>C (p.Leu529Pro)
c.1718T>C (p.Leu573Pro)
c.1583T>C (p.Leu528Pro)
n.1879T>C
2g.71551143T>GCA347217512DYSFc.1625T>G (p.Leu542Arg)
c.1679T>G (p.Leu560Arg)
c.1628T>G (p.Leu543Arg)
c.1676T>G (p.Leu559Arg)
c.1721T>G (p.Leu574Arg)
c.1586T>G (p.Leu529Arg)
c.1718T>G (p.Leu573Arg)
c.1583T>G (p.Leu528Arg)
n.1879T>G
2g.71551144C>ACA426701175DYSFc.1626C>A (p.Leu542=)
c.1680C>A (p.Leu560=)
c.1629C>A (p.Leu543=)
c.1677C>A (p.Leu559=)
c.1722C>A (p.Leu574=)
c.1587C>A (p.Leu529=)
c.1719C>A (p.Leu573=)
c.1584C>A (p.Leu528=)
n.1880C>A
2g.71551144C>GCA426701176DYSFc.1626C>G (p.Leu542=)
c.1680C>G (p.Leu560=)
c.1629C>G (p.Leu543=)
c.1677C>G (p.Leu559=)
c.1722C>G (p.Leu574=)
c.1587C>G (p.Leu529=)
c.1719C>G (p.Leu573=)
c.1584C>G (p.Leu528=)
n.1880C>G
2g.71551144C>TCA426701177DYSFc.1626C>T (p.Leu542=)
c.1680C>T (p.Leu560=)
c.1629C>T (p.Leu543=)
c.1677C>T (p.Leu559=)
c.1722C>T (p.Leu574=)
c.1587C>T (p.Leu529=)
c.1719C>T (p.Leu573=)
c.1584C>T (p.Leu528=)
n.1880C>T
2g.71551145A=CA1260094752DYSFc.1627A= (p.Asn543=)
c.1681A= (p.Asn561=)
c.1630A= (p.Asn544=)
c.1678A= (p.Asn560=)
c.1723A= (p.Asn575=)
c.1588A= (p.Asn530=)
c.1720A= (p.Asn574=)
c.1585A= (p.Asn529=)
n.1881A=
2g.71551145A>CCA347217513DYSFc.1627A>C (p.Asn543His)
c.1681A>C (p.Asn561His)
c.1630A>C (p.Asn544His)
c.1678A>C (p.Asn560His)
c.1723A>C (p.Asn575His)
c.1588A>C (p.Asn530His)
c.1720A>C (p.Asn574His)
c.1585A>C (p.Asn529His)
n.1881A>C
 gnomAD v4
2g.71551145A>GCA347217514DYSFc.1627A>G (p.Asn543Asp)
c.1681A>G (p.Asn561Asp)
c.1630A>G (p.Asn544Asp)
c.1678A>G (p.Asn560Asp)
c.1723A>G (p.Asn575Asp)
c.1588A>G (p.Asn530Asp)
c.1720A>G (p.Asn574Asp)
c.1585A>G (p.Asn529Asp)
n.1881A>G
 dbSNP gnomAD v2 gnomAD v4
2g.71551145A>TCA347217515DYSFc.1627A>T (p.Asn543Tyr)
c.1681A>T (p.Asn561Tyr)
c.1630A>T (p.Asn544Tyr)
c.1678A>T (p.Asn560Tyr)
c.1723A>T (p.Asn575Tyr)
c.1588A>T (p.Asn530Tyr)
c.1720A>T (p.Asn574Tyr)
c.1585A>T (p.Asn529Tyr)
n.1881A>T
2g.71551146A=CA1260094753DYSFc.1628A= (p.Asn543=)
c.1682A= (p.Asn561=)
c.1631A= (p.Asn544=)
c.1679A= (p.Asn560=)
c.1724A= (p.Asn575=)
c.1589A= (p.Asn530=)
c.1721A= (p.Asn574=)
c.1586A= (p.Asn529=)
n.1882A=
2g.71551146A>CCA347217516DYSFc.1628A>C (p.Asn543Thr)
c.1682A>C (p.Asn561Thr)
c.1631A>C (p.Asn544Thr)
c.1679A>C (p.Asn560Thr)
c.1724A>C (p.Asn575Thr)
c.1589A>C (p.Asn530Thr)
c.1721A>C (p.Asn574Thr)
c.1586A>C (p.Asn529Thr)
n.1882A>C
 gnomAD v4
2g.71551146A>GCA347217517DYSFc.1628A>G (p.Asn543Ser)
c.1682A>G (p.Asn561Ser)
c.1631A>G (p.Asn544Ser)
c.1679A>G (p.Asn560Ser)
c.1724A>G (p.Asn575Ser)
c.1589A>G (p.Asn530Ser)
c.1721A>G (p.Asn574Ser)
c.1586A>G (p.Asn529Ser)
n.1882A>G
 dbSNP gnomAD v4
2g.71551146A>TCA347217518DYSFc.1628A>T (p.Asn543Ile)
c.1682A>T (p.Asn561Ile)
c.1631A>T (p.Asn544Ile)
c.1679A>T (p.Asn560Ile)
c.1724A>T (p.Asn575Ile)
c.1589A>T (p.Asn530Ile)
c.1721A>T (p.Asn574Ile)
c.1586A>T (p.Asn529Ile)
n.1882A>T
 gnomAD v4
2g.71551147C>ACA347217519DYSFc.1629C>A (p.Asn543Lys)
c.1683C>A (p.Asn561Lys)
c.1632C>A (p.Asn544Lys)
c.1680C>A (p.Asn560Lys)
c.1725C>A (p.Asn575Lys)
c.1590C>A (p.Asn530Lys)
c.1722C>A (p.Asn574Lys)
c.1587C>A (p.Asn529Lys)
n.1883C>A
2g.71551147C=CA1260094754DYSFc.1629C= (p.Asn543=)
c.1683C= (p.Asn561=)
c.1632C= (p.Asn544=)
c.1680C= (p.Asn560=)
c.1725C= (p.Asn575=)
c.1590C= (p.Asn530=)
c.1722C= (p.Asn574=)
c.1587C= (p.Asn529=)
n.1883C=
2g.71551147C>GCA347217520DYSFc.1629C>G (p.Asn543Lys)
c.1683C>G (p.Asn561Lys)
c.1632C>G (p.Asn544Lys)
c.1680C>G (p.Asn560Lys)
c.1725C>G (p.Asn575Lys)
c.1590C>G (p.Asn530Lys)
c.1722C>G (p.Asn574Lys)
c.1587C>G (p.Asn529Lys)
n.1883C>G
2g.71551147C>TCA1705884DYSFc.1629C>T (p.Asn543=)
c.1683C>T (p.Asn561=)
c.1632C>T (p.Asn544=)
c.1680C>T (p.Asn560=)
c.1725C>T (p.Asn575=)
c.1590C>T (p.Asn530=)
c.1722C>T (p.Asn574=)
c.1587C>T (p.Asn529=)
n.1883C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71551148A=CA1260094755DYSFc.1630A= (p.Thr544=)
c.1684A= (p.Thr562=)
c.1633A= (p.Thr545=)
c.1681A= (p.Thr561=)
c.1726A= (p.Thr576=)
c.1591A= (p.Thr531=)
c.1723A= (p.Thr575=)
c.1588A= (p.Thr530=)
n.1884A=
2g.71551148A>CCA1705885DYSFc.1630A>C (p.Thr544Pro)
c.1684A>C (p.Thr562Pro)
c.1633A>C (p.Thr545Pro)
c.1681A>C (p.Thr561Pro)
c.1726A>C (p.Thr576Pro)
c.1591A>C (p.Thr531Pro)
c.1723A>C (p.Thr575Pro)
c.1588A>C (p.Thr530Pro)
n.1884A>C
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.71551148A>GCA347217521DYSFc.1630A>G (p.Thr544Ala)
c.1684A>G (p.Thr562Ala)
c.1633A>G (p.Thr545Ala)
c.1681A>G (p.Thr561Ala)
c.1726A>G (p.Thr576Ala)
c.1591A>G (p.Thr531Ala)
c.1723A>G (p.Thr575Ala)
c.1588A>G (p.Thr530Ala)
n.1884A>G
 gnomAD v4
2g.71551148A>TCA347217522DYSFc.1630A>T (p.Thr544Ser)
c.1684A>T (p.Thr562Ser)
c.1633A>T (p.Thr545Ser)
c.1681A>T (p.Thr561Ser)
c.1726A>T (p.Thr576Ser)
c.1591A>T (p.Thr531Ser)
c.1723A>T (p.Thr575Ser)
c.1588A>T (p.Thr530Ser)
n.1884A>T
2g.71551149C>ACA347217523DYSFc.1631C>A (p.Thr544Lys)
c.1685C>A (p.Thr562Lys)
c.1634C>A (p.Thr545Lys)
c.1682C>A (p.Thr561Lys)
c.1727C>A (p.Thr576Lys)
c.1592C>A (p.Thr531Lys)
c.1724C>A (p.Thr575Lys)
c.1589C>A (p.Thr530Lys)
n.1885C>A
2g.71551149C>GCA347217524DYSFc.1631C>G (p.Thr544Arg)
c.1685C>G (p.Thr562Arg)
c.1634C>G (p.Thr545Arg)
c.1682C>G (p.Thr561Arg)
c.1727C>G (p.Thr576Arg)
c.1592C>G (p.Thr531Arg)
c.1724C>G (p.Thr575Arg)
c.1589C>G (p.Thr530Arg)
n.1885C>G
2g.71551149C>TCA347217525DYSFc.1631C>T (p.Thr544Ile)
c.1685C>T (p.Thr562Ile)
c.1634C>T (p.Thr545Ile)
c.1682C>T (p.Thr561Ile)
c.1727C>T (p.Thr576Ile)
c.1592C>T (p.Thr531Ile)
c.1724C>T (p.Thr575Ile)
c.1589C>T (p.Thr530Ile)
n.1885C>T
2g.71551150delCA2695200814DYSFc.1632del (p.Gly545AlafsTer?)
c.1686del (p.Gly563AlafsTer?)
c.1635del (p.Gly546AlafsTer?)
c.1683del (p.Gly562AlafsTer?)
c.1728del (p.Gly577AlafsTer?)
c.1593del (p.Gly532AlafsTer?)
c.1725del (p.Gly576AlafsTer?)
c.1590del (p.Gly531AlafsTer?)
n.1886del
 ClinVar
2g.71551150A=CA1260094756DYSFc.1632A= (p.Thr544=)
c.1686A= (p.Thr562=)
c.1635A= (p.Thr545=)
c.1683A= (p.Thr561=)
c.1728A= (p.Thr576=)
c.1593A= (p.Thr531=)
c.1725A= (p.Thr575=)
c.1590A= (p.Thr530=)
n.1886A=
2g.71551150A>CCA426701178DYSFc.1632A>C (p.Thr544=)
c.1686A>C (p.Thr562=)
c.1635A>C (p.Thr545=)
c.1683A>C (p.Thr561=)
c.1728A>C (p.Thr576=)
c.1593A>C (p.Thr531=)
c.1725A>C (p.Thr575=)
c.1590A>C (p.Thr530=)
n.1886A>C
2g.71551150A>GCA426701179DYSFc.1632A>G (p.Thr544=)
c.1686A>G (p.Thr562=)
c.1635A>G (p.Thr545=)
c.1683A>G (p.Thr561=)
c.1728A>G (p.Thr576=)
c.1593A>G (p.Thr531=)
c.1725A>G (p.Thr575=)
c.1590A>G (p.Thr530=)
n.1886A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71551150A>TCA426701180DYSFc.1632A>T (p.Thr544=)
c.1686A>T (p.Thr562=)
c.1635A>T (p.Thr545=)
c.1683A>T (p.Thr561=)
c.1728A>T (p.Thr576=)
c.1593A>T (p.Thr531=)
c.1725A>T (p.Thr575=)
c.1590A>T (p.Thr530=)
n.1886A>T
 dbSNP gnomAD v2
2g.71551151G>ACA347217526DYSFc.1633G>A (p.Gly545Ser)
c.1687G>A (p.Gly563Ser)
c.1636G>A (p.Gly546Ser)
c.1684G>A (p.Gly562Ser)
c.1729G>A (p.Gly577Ser)
c.1594G>A (p.Gly532Ser)
c.1726G>A (p.Gly576Ser)
c.1591G>A (p.Gly531Ser)
n.1887G>A
2g.71551151G>CCA347217527DYSFc.1633G>C (p.Gly545Arg)
c.1687G>C (p.Gly563Arg)
c.1636G>C (p.Gly546Arg)
c.1684G>C (p.Gly562Arg)
c.1729G>C (p.Gly577Arg)
c.1594G>C (p.Gly532Arg)
c.1726G>C (p.Gly576Arg)
c.1591G>C (p.Gly531Arg)
n.1887G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.71551151G=CA1260094757DYSFc.1633G= (p.Gly545=)
c.1687G= (p.Gly563=)
c.1636G= (p.Gly546=)
c.1684G= (p.Gly562=)
c.1729G= (p.Gly577=)
c.1594G= (p.Gly532=)
c.1726G= (p.Gly576=)
c.1591G= (p.Gly531=)
n.1887G=
2g.71551151G>TCA347217528DYSFc.1633G>T (p.Gly545Cys)
c.1687G>T (p.Gly563Cys)
c.1636G>T (p.Gly546Cys)
c.1684G>T (p.Gly562Cys)
c.1729G>T (p.Gly577Cys)
c.1594G>T (p.Gly532Cys)
c.1726G>T (p.Gly576Cys)
c.1591G>T (p.Gly531Cys)
n.1887G>T
 dbSNP gnomAD v3 gnomAD v4
2g.71551158_71551182dupCA2659545837DYSFc.1638+2_1638+26dup
c.1692+2_1692+26dup
c.1641+2_1641+26dup
c.1689+2_1689+26dup
c.1734+2_1734+26dup
c.1599+2_1599+26dup
c.1731+2_1731+26dup
c.1596+2_1596+26dup
n.1892+2_1892+26dup
 gnomAD v4
2g.71551152G>ACA347217529DYSFc.1634G>A (p.Gly545Asp)
c.1688G>A (p.Gly563Asp)
c.1637G>A (p.Gly546Asp)
c.1685G>A (p.Gly562Asp)
c.1730G>A (p.Gly577Asp)
c.1595G>A (p.Gly532Asp)
c.1727G>A (p.Gly576Asp)
c.1592G>A (p.Gly531Asp)
n.1888G>A
2g.71551152G>CCA347217530DYSFc.1634G>C (p.Gly545Ala)
c.1688G>C (p.Gly563Ala)
c.1637G>C (p.Gly546Ala)
c.1685G>C (p.Gly562Ala)
c.1730G>C (p.Gly577Ala)
c.1595G>C (p.Gly532Ala)
c.1727G>C (p.Gly576Ala)
c.1592G>C (p.Gly531Ala)
n.1888G>C
2g.71551152G>TCA347217531DYSFc.1634G>T (p.Gly545Val)
c.1688G>T (p.Gly563Val)
c.1637G>T (p.Gly546Val)
c.1685G>T (p.Gly562Val)
c.1730G>T (p.Gly577Val)
c.1595G>T (p.Gly532Val)
c.1727G>T (p.Gly576Val)
c.1592G>T (p.Gly531Val)
n.1888G>T
2g.71551153C>ACA426701181DYSFc.1635C>A (p.Gly545=)
c.1689C>A (p.Gly563=)
c.1638C>A (p.Gly546=)
c.1686C>A (p.Gly562=)
c.1731C>A (p.Gly577=)
c.1596C>A (p.Gly532=)
c.1728C>A (p.Gly576=)
c.1593C>A (p.Gly531=)
n.1889C>A
2g.71551153C=CA1260094758DYSFc.1635C= (p.Gly545=)
c.1689C= (p.Gly563=)
c.1638C= (p.Gly546=)
c.1686C= (p.Gly562=)
c.1731C= (p.Gly577=)
c.1596C= (p.Gly532=)
c.1728C= (p.Gly576=)
c.1593C= (p.Gly531=)
n.1889C=
2g.71551153C>GCA426701182DYSFc.1635C>G (p.Gly545=)
c.1689C>G (p.Gly563=)
c.1638C>G (p.Gly546=)
c.1686C>G (p.Gly562=)
c.1731C>G (p.Gly577=)
c.1596C>G (p.Gly532=)
c.1728C>G (p.Gly576=)
c.1593C>G (p.Gly531=)
n.1889C>G
 dbSNP gnomAD v2 gnomAD v4
2g.71551153C>TCA426701183DYSFc.1635C>T (p.Gly545=)
c.1689C>T (p.Gly563=)
c.1638C>T (p.Gly546=)
c.1686C>T (p.Gly562=)
c.1731C>T (p.Gly577=)
c.1596C>T (p.Gly532=)
c.1728C>T (p.Gly576=)
c.1593C>T (p.Gly531=)
n.1889C>T
2g.71551154A>CCA347217532DYSFc.1636A>C (p.Lys546Gln)
c.1690A>C (p.Lys564Gln)
c.1639A>C (p.Lys547Gln)
c.1687A>C (p.Lys563Gln)
c.1732A>C (p.Lys578Gln)
c.1597A>C (p.Lys533Gln)
c.1729A>C (p.Lys577Gln)
c.1594A>C (p.Lys532Gln)
n.1890A>C
2g.71551154A>GCA347217533DYSFc.1636A>G (p.Lys546Glu)
c.1690A>G (p.Lys564Glu)
c.1639A>G (p.Lys547Glu)
c.1687A>G (p.Lys563Glu)
c.1732A>G (p.Lys578Glu)
c.1597A>G (p.Lys533Glu)
c.1729A>G (p.Lys577Glu)
c.1594A>G (p.Lys532Glu)
n.1890A>G
2g.71551154A>TCA347217534DYSFc.1636A>T (p.Lys546Ter)
c.1690A>T (p.Lys564Ter)
c.1639A>T (p.Lys547Ter)
c.1687A>T (p.Lys563Ter)
c.1732A>T (p.Lys578Ter)
c.1597A>T (p.Lys533Ter)
c.1729A>T (p.Lys577Ter)
c.1594A>T (p.Lys532Ter)
n.1890A>T
2g.71551155A=CA1260094759DYSFc.1637A= (p.Lys546=)
c.1691A= (p.Lys564=)
c.1640A= (p.Lys547=)
c.1688A= (p.Lys563=)
c.1733A= (p.Lys578=)
c.1598A= (p.Lys533=)
c.1730A= (p.Lys577=)
c.1595A= (p.Lys532=)
n.1891A=
2g.71551155A>CCA49793005DYSFc.1637A>C (p.Lys546Thr)
c.1691A>C (p.Lys564Thr)
c.1640A>C (p.Lys547Thr)
c.1688A>C (p.Lys563Thr)
c.1733A>C (p.Lys578Thr)
c.1598A>C (p.Lys533Thr)
c.1730A>C (p.Lys577Thr)
c.1595A>C (p.Lys532Thr)
n.1891A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71551155A>GCA347217536DYSFc.1637A>G (p.Lys546Arg)
c.1691A>G (p.Lys564Arg)
c.1640A>G (p.Lys547Arg)
c.1688A>G (p.Lys563Arg)
c.1733A>G (p.Lys578Arg)
c.1598A>G (p.Lys533Arg)
c.1730A>G (p.Lys577Arg)
c.1595A>G (p.Lys532Arg)
n.1891A>G
2g.71551155A>TCA347217535DYSFc.1637A>T (p.Lys546Met)
c.1691A>T (p.Lys564Met)
c.1640A>T (p.Lys547Met)
c.1688A>T (p.Lys563Met)
c.1733A>T (p.Lys578Met)
c.1598A>T (p.Lys533Met)
c.1730A>T (p.Lys577Met)
c.1595A>T (p.Lys532Met)
n.1891A>T
2g.71551156G>ACA426701184DYSFc.1638G>A (p.Lys546=)
c.1692G>A (p.Lys564=)
c.1641G>A (p.Lys547=)
c.1689G>A (p.Lys563=)
c.1734G>A (p.Lys578=)
c.1599G>A (p.Lys533=)
c.1731G>A (p.Lys577=)
c.1596G>A (p.Lys532=)
n.1892G>A
2g.71551156G>CCA347217537DYSFc.1638G>C (p.Lys546Asn)
c.1692G>C (p.Lys564Asn)
c.1641G>C (p.Lys547Asn)
c.1689G>C (p.Lys563Asn)
c.1734G>C (p.Lys578Asn)
c.1599G>C (p.Lys533Asn)
c.1731G>C (p.Lys577Asn)
c.1596G>C (p.Lys532Asn)
n.1892G>C
2g.71551156G>TCA347217538DYSFc.1638G>T (p.Lys546Asn)
c.1692G>T (p.Lys564Asn)
c.1641G>T (p.Lys547Asn)
c.1689G>T (p.Lys563Asn)
c.1734G>T (p.Lys578Asn)
c.1599G>T (p.Lys533Asn)
c.1731G>T (p.Lys577Asn)
c.1596G>T (p.Lys532Asn)
n.1892G>T
2g.71551157delCA2586969586DYSFc.1638+1del
c.1692+1del
c.1641+1del
c.1689+1del
c.1734+1del
c.1599+1del
c.1731+1del
c.1596+1del
n.1892+1del
2g.71551157G>ACA347217539DYSFc.1638+1G>A (n.1638+1G>A)
c.1692+1G>A (n.1692+1G>A)
c.1641+1G>A (n.1641+1G>A)
c.1689+1G>A (n.1689+1G>A)
c.1734+1G>A (n.1734+1G>A)
c.1599+1G>A (n.1599+1G>A)
c.1731+1G>A (n.1731+1G>A)
c.1596+1G>A (n.1596+1G>A)
n.1892+1G>A
 ClinVar dbSNP
2g.71551157G>CCA347217540DYSFc.1638+1G>C (n.1638+1G>C)
c.1692+1G>C (n.1692+1G>C)
c.1641+1G>C (n.1641+1G>C)
c.1689+1G>C (n.1689+1G>C)
c.1734+1G>C (n.1734+1G>C)
c.1599+1G>C (n.1599+1G>C)
c.1731+1G>C (n.1731+1G>C)
c.1596+1G>C (n.1596+1G>C)
n.1892+1G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71551157G=CA1260094760DYSFc.1638+1G= (n.1638+1G=)
c.1692+1G= (n.1692+1G=)
c.1641+1G= (n.1641+1G=)
c.1689+1G= (n.1689+1G=)
c.1734+1G= (n.1734+1G=)
c.1599+1G= (n.1599+1G=)
c.1731+1G= (n.1731+1G=)
c.1596+1G= (n.1596+1G=)
n.1892+1G=
2g.71551157G>TCA347217541DYSFc.1638+1G>T (n.1638+1G>T)
c.1692+1G>T (n.1692+1G>T)
c.1641+1G>T (n.1641+1G>T)
c.1689+1G>T (n.1689+1G>T)
c.1734+1G>T (n.1734+1G>T)
c.1599+1G>T (n.1599+1G>T)
c.1731+1G>T (n.1731+1G>T)
c.1596+1G>T (n.1596+1G>T)
n.1892+1G>T
2g.71551158T>ACA222131DYSFc.1638+2T>A (n.1638+2T>A)
c.1692+2T>A (n.1692+2T>A)
c.1641+2T>A (n.1641+2T>A)
c.1689+2T>A (n.1689+2T>A)
c.1734+2T>A (n.1734+2T>A)
c.1599+2T>A (n.1599+2T>A)
c.1731+2T>A (n.1731+2T>A)
c.1596+2T>A (n.1596+2T>A)
n.1892+2T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.71551158T>CCA347217542DYSFc.1638+2T>C (n.1638+2T>C)
c.1692+2T>C (n.1692+2T>C)
c.1641+2T>C (n.1641+2T>C)
c.1689+2T>C (n.1689+2T>C)
c.1734+2T>C (n.1734+2T>C)
c.1599+2T>C (n.1599+2T>C)
c.1731+2T>C (n.1731+2T>C)
c.1596+2T>C (n.1596+2T>C)
n.1892+2T>C
2g.71551158T>GCA347217543DYSFc.1638+2T>G (n.1638+2T>G)
c.1692+2T>G (n.1692+2T>G)
c.1641+2T>G (n.1641+2T>G)
c.1689+2T>G (n.1689+2T>G)
c.1734+2T>G (n.1734+2T>G)
c.1599+2T>G (n.1599+2T>G)
c.1731+2T>G (n.1731+2T>G)
c.1596+2T>G (n.1596+2T>G)
n.1892+2T>G
2g.71551158T=CA1260094761DYSFc.1638+2T= (n.1638+2T=)
c.1692+2T= (n.1692+2T=)
c.1641+2T= (n.1641+2T=)
c.1689+2T= (n.1689+2T=)
c.1734+2T= (n.1734+2T=)
c.1599+2T= (n.1599+2T=)
c.1731+2T= (n.1731+2T=)
c.1596+2T= (n.1596+2T=)
n.1892+2T=
2g.71551160A=CA1260094762DYSFc.1638+4A= (n.1638+4A=)
c.1692+4A= (n.1692+4A=)
c.1641+4A= (n.1641+4A=)
c.1689+4A= (n.1689+4A=)
c.1734+4A= (n.1734+4A=)
c.1599+4A= (n.1599+4A=)
c.1731+4A= (n.1731+4A=)
c.1596+4A= (n.1596+4A=)
n.1892+4A=
2g.71551160A>GCA1705886DYSFc.1638+4A>G (n.1638+4A>G)
c.1692+4A>G (n.1692+4A>G)
c.1641+4A>G (n.1641+4A>G)
c.1689+4A>G (n.1689+4A>G)
c.1734+4A>G (n.1734+4A>G)
c.1599+4A>G (n.1599+4A>G)
c.1731+4A>G (n.1731+4A>G)
c.1596+4A>G (n.1596+4A>G)
n.1892+4A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71551162C>ACA49793022DYSFc.1638+6C>A (n.1638+6C>A)
c.1692+6C>A (n.1692+6C>A)
c.1641+6C>A (n.1641+6C>A)
c.1689+6C>A (n.1689+6C>A)
c.1734+6C>A (n.1734+6C>A)
c.1599+6C>A (n.1599+6C>A)
c.1731+6C>A (n.1731+6C>A)
c.1596+6C>A (n.1596+6C>A)
n.1892+6C>A
 dbSNP
2g.71551162C=CA1260094763DYSFc.1638+6C= (n.1638+6C=)
c.1692+6C= (n.1692+6C=)
c.1641+6C= (n.1641+6C=)
c.1689+6C= (n.1689+6C=)
c.1734+6C= (n.1734+6C=)
c.1599+6C= (n.1599+6C=)
c.1731+6C= (n.1731+6C=)
c.1596+6C= (n.1596+6C=)
n.1892+6C=
2g.71551163C>ACA2576999987DYSFc.1638+7C>A (n.1638+7C>A)
c.1692+7C>A (n.1692+7C>A)
c.1641+7C>A (n.1641+7C>A)
c.1689+7C>A (n.1689+7C>A)
c.1734+7C>A (n.1734+7C>A)
c.1599+7C>A (n.1599+7C>A)
c.1731+7C>A (n.1731+7C>A)
c.1596+7C>A (n.1596+7C>A)
n.1892+7C>A
2g.71551163C=CA1260094764DYSFc.1638+7C= (n.1638+7C=)
c.1692+7C= (n.1692+7C=)
c.1641+7C= (n.1641+7C=)
c.1689+7C= (n.1689+7C=)
c.1734+7C= (n.1734+7C=)
c.1599+7C= (n.1599+7C=)
c.1731+7C= (n.1731+7C=)
c.1596+7C= (n.1596+7C=)
n.1892+7C=
2g.71551163C>TCA1705887DYSFc.1638+7C>T (n.1638+7C>T)
c.1692+7C>T (n.1692+7C>T)
c.1641+7C>T (n.1641+7C>T)
c.1689+7C>T (n.1689+7C>T)
c.1734+7C>T (n.1734+7C>T)
c.1599+7C>T (n.1599+7C>T)
c.1731+7C>T (n.1731+7C>T)
c.1596+7C>T (n.1596+7C>T)
n.1892+7C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71551164G>ACA1705888DYSFc.1638+8G>A (n.1638+8G>A)
c.1692+8G>A (n.1692+8G>A)
c.1641+8G>A (n.1641+8G>A)
c.1689+8G>A (n.1689+8G>A)
c.1734+8G>A (n.1734+8G>A)
c.1599+8G>A (n.1599+8G>A)
c.1731+8G>A (n.1731+8G>A)
c.1596+8G>A (n.1596+8G>A)
n.1892+8G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71551164G=CA1260094765DYSFc.1638+8G= (n.1638+8G=)
c.1692+8G= (n.1692+8G=)
c.1641+8G= (n.1641+8G=)
c.1689+8G= (n.1689+8G=)
c.1734+8G= (n.1734+8G=)
c.1599+8G= (n.1599+8G=)
c.1731+8G= (n.1731+8G=)
c.1596+8G= (n.1596+8G=)
n.1892+8G=
2g.71551165G>CCA2573135708DYSFc.1638+9G>C (n.1638+9G>C)
c.1692+9G>C (n.1692+9G>C)
c.1641+9G>C (n.1641+9G>C)
c.1689+9G>C (n.1689+9G>C)
c.1734+9G>C (n.1734+9G>C)
c.1599+9G>C (n.1599+9G>C)
c.1731+9G>C (n.1731+9G>C)
c.1596+9G>C (n.1596+9G>C)
n.1892+9G>C
 ClinVar dbSNP
2g.71551165G>TCA2750415274DYSFc.1638+9G>T (n.1638+9G>T)
c.1692+9G>T (n.1692+9G>T)
c.1641+9G>T (n.1641+9G>T)
c.1689+9G>T (n.1689+9G>T)
c.1734+9G>T (n.1734+9G>T)
c.1599+9G>T (n.1599+9G>T)
c.1731+9G>T (n.1731+9G>T)
c.1596+9G>T (n.1596+9G>T)
n.1892+9G>T
2g.71551166C=CA1260094766DYSFc.1638+10C= (n.1638+10C=)
c.1692+10C= (n.1692+10C=)
c.1641+10C= (n.1641+10C=)
c.1689+10C= (n.1689+10C=)
c.1734+10C= (n.1734+10C=)
c.1599+10C= (n.1599+10C=)
c.1731+10C= (n.1731+10C=)
c.1596+10C= (n.1596+10C=)
n.1892+10C=
2g.71551166C>GCA533258164DYSFc.1638+10C>G (n.1638+10C>G)
c.1692+10C>G (n.1692+10C>G)
c.1641+10C>G (n.1641+10C>G)
c.1689+10C>G (n.1689+10C>G)
c.1734+10C>G (n.1734+10C>G)
c.1599+10C>G (n.1599+10C>G)
c.1731+10C>G (n.1731+10C>G)
c.1596+10C>G (n.1596+10C>G)
n.1892+10C>G
 dbSNP gnomAD v2 gnomAD v4
2g.71551167T>CCA533258165DYSFc.1638+11T>C (n.1638+11T>C)
c.1692+11T>C (n.1692+11T>C)
c.1641+11T>C (n.1641+11T>C)
c.1689+11T>C (n.1689+11T>C)
c.1734+11T>C (n.1734+11T>C)
c.1599+11T>C (n.1599+11T>C)
c.1731+11T>C (n.1731+11T>C)
c.1596+11T>C (n.1596+11T>C)
n.1892+11T>C
 dbSNP gnomAD v2 gnomAD v4
2g.71551167T=CA1260094767DYSFc.1638+11T= (n.1638+11T=)
c.1692+11T= (n.1692+11T=)
c.1641+11T= (n.1641+11T=)
c.1689+11T= (n.1689+11T=)
c.1734+11T= (n.1734+11T=)
c.1599+11T= (n.1599+11T=)
c.1731+11T= (n.1731+11T=)
c.1596+11T= (n.1596+11T=)
n.1892+11T=
2g.71551169G>ACA2739272995DYSFc.1638+13G>A (n.1638+13G>A)
c.1692+13G>A (n.1692+13G>A)
c.1641+13G>A (n.1641+13G>A)
c.1689+13G>A (n.1689+13G>A)
c.1734+13G>A (n.1734+13G>A)
c.1599+13G>A (n.1599+13G>A)
c.1731+13G>A (n.1731+13G>A)
c.1596+13G>A (n.1596+13G>A)
n.1892+13G>A
 ClinVar
2g.71551169G>CCA1705889DYSFc.1638+13G>C (n.1638+13G>C)
c.1692+13G>C (n.1692+13G>C)
c.1641+13G>C (n.1641+13G>C)
c.1689+13G>C (n.1689+13G>C)
c.1734+13G>C (n.1734+13G>C)
c.1599+13G>C (n.1599+13G>C)
c.1731+13G>C (n.1731+13G>C)
c.1596+13G>C (n.1596+13G>C)
n.1892+13G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71551169G=CA1260094768DYSFc.1638+13G= (n.1638+13G=)
c.1692+13G= (n.1692+13G=)
c.1641+13G= (n.1641+13G=)
c.1689+13G= (n.1689+13G=)
c.1734+13G= (n.1734+13G=)
c.1599+13G= (n.1599+13G=)
c.1731+13G= (n.1731+13G=)
c.1596+13G= (n.1596+13G=)
n.1892+13G=
2g.71551170_71551171delinsAGCA1260094769DYSFc.1638+14_1638+15delinsAG (n.1638+14_1638+15delinsAG)
c.1692+14_1692+15delinsAG (n.1692+14_1692+15delinsAG)
c.1641+14_1641+15delinsAG (n.1641+14_1641+15delinsAG)
c.1689+14_1689+15delinsAG (n.1689+14_1689+15delinsAG)
c.1734+14_1734+15delinsAG (n.1734+14_1734+15delinsAG)
c.1599+14_1599+15delinsAG (n.1599+14_1599+15delinsAG)
c.1731+14_1731+15delinsAG (n.1731+14_1731+15delinsAG)
c.1596+14_1596+15delinsAG (n.1596+14_1596+15delinsAG)
n.1892+14_1892+15delinsAG
2g.71551171delCA533258166DYSFc.1638+15del (n.1638+15del)
c.1692+15del (n.1692+15del)
c.1641+15del (n.1641+15del)
c.1689+15del (n.1689+15del)
c.1734+15del (n.1734+15del)
c.1599+15del (n.1599+15del)
c.1731+15del (n.1731+15del)
c.1596+15del (n.1596+15del)
n.1892+15del
 dbSNP gnomAD v2
2g.71551171G>ACA2739272996DYSFc.1638+15G>A (n.1638+15G>A)
c.1692+15G>A (n.1692+15G>A)
c.1641+15G>A (n.1641+15G>A)
c.1689+15G>A (n.1689+15G>A)
c.1734+15G>A (n.1734+15G>A)
c.1599+15G>A (n.1599+15G>A)
c.1731+15G>A (n.1731+15G>A)
c.1596+15G>A (n.1596+15G>A)
n.1892+15G>A
 ClinVar
2g.71551172C=CA1260094770DYSFc.1638+16C= (n.1638+16C=)
c.1692+16C= (n.1692+16C=)
c.1641+16C= (n.1641+16C=)
c.1689+16C= (n.1689+16C=)
c.1734+16C= (n.1734+16C=)
c.1599+16C= (n.1599+16C=)
c.1731+16C= (n.1731+16C=)
c.1596+16C= (n.1596+16C=)
n.1892+16C=
2g.71551172C>TCA533258168DYSFc.1638+16C>T (n.1638+16C>T)
c.1692+16C>T (n.1692+16C>T)
c.1641+16C>T (n.1641+16C>T)
c.1689+16C>T (n.1689+16C>T)
c.1734+16C>T (n.1734+16C>T)
c.1599+16C>T (n.1599+16C>T)
c.1731+16C>T (n.1731+16C>T)
c.1596+16C>T (n.1596+16C>T)
n.1892+16C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71551173C>TCA2659545842DYSFc.1638+17C>T (n.1638+17C>T)
c.1692+17C>T (n.1692+17C>T)
c.1641+17C>T (n.1641+17C>T)
c.1689+17C>T (n.1689+17C>T)
c.1734+17C>T (n.1734+17C>T)
c.1599+17C>T (n.1599+17C>T)
c.1731+17C>T (n.1731+17C>T)
c.1596+17C>T (n.1596+17C>T)
n.1892+17C>T
 gnomAD v4

Number of alleles fetched