| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71551020_71551050delinsGGCTT | CA2695200812 | DYSF | c.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 | |
| 2 | g.71551040G>A | CA1705868 | DYSF | c.1523-1G>A (n.1523-1G>A) c.1577-1G>A (n.1577-1G>A) c.1526-1G>A (n.1526-1G>A) c.1574-1G>A (n.1574-1G>A) c.1619-1G>A (n.1619-1G>A) c.1484-1G>A (n.1484-1G>A) c.1616-1G>A (n.1616-1G>A) c.1481-1G>A (n.1481-1G>A) n.1777-1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71551040G>C | CA347217282 | DYSF | c.1523-1G>C (n.1523-1G>C) c.1577-1G>C (n.1577-1G>C) c.1526-1G>C (n.1526-1G>C) c.1574-1G>C (n.1574-1G>C) c.1619-1G>C (n.1619-1G>C) c.1484-1G>C (n.1484-1G>C) c.1616-1G>C (n.1616-1G>C) c.1481-1G>C (n.1481-1G>C) n.1777-1G>C | gnomAD v4 |
| 2 | g.71551040G= | CA1260094704 | DYSF | c.1523-1G= (n.1523-1G=) c.1577-1G= (n.1577-1G=) c.1526-1G= (n.1526-1G=) c.1574-1G= (n.1574-1G=) c.1619-1G= (n.1619-1G=) c.1484-1G= (n.1484-1G=) c.1616-1G= (n.1616-1G=) c.1481-1G= (n.1481-1G=) n.1777-1G= | |
| 2 | g.71551040G>T | CA347217283 | DYSF | c.1523-1G>T (n.1523-1G>T) c.1577-1G>T (n.1577-1G>T) c.1526-1G>T (n.1526-1G>T) c.1574-1G>T (n.1574-1G>T) c.1619-1G>T (n.1619-1G>T) c.1484-1G>T (n.1484-1G>T) c.1616-1G>T (n.1616-1G>T) c.1481-1G>T (n.1481-1G>T) n.1777-1G>T | |
| 2 | g.71551041T>A | CA347217284 | DYSF | c.1523T>A (p.Leu508Ter) c.1577T>A (p.Val526Glu) c.1526T>A (p.Leu509Ter) c.1574T>A (p.Val525Glu) c.1619T>A (p.Leu540Ter) c.1484T>A (p.Val495Glu) c.1616T>A (p.Leu539Ter) c.1481T>A (p.Val494Glu) n.1777T>A | |
| 2 | g.71551041T>C | CA347217285 | DYSF | c.1523T>C (p.Leu508Ser) c.1577T>C (p.Val526Ala) c.1526T>C (p.Leu509Ser) c.1574T>C (p.Val525Ala) c.1619T>C (p.Leu540Ser) c.1484T>C (p.Val495Ala) c.1616T>C (p.Leu539Ser) c.1481T>C (p.Val494Ala) n.1777T>C | |
| 2 | g.71551041T>G | CA347217286 | DYSF | c.1523T>G (p.Leu508Trp) c.1577T>G (p.Val526Gly) c.1526T>G (p.Leu509Trp) c.1574T>G (p.Val525Gly) c.1619T>G (p.Leu540Trp) c.1484T>G (p.Val495Gly) c.1616T>G (p.Leu539Trp) c.1481T>G (p.Val494Gly) n.1777T>G | |
| 2 | g.71551042G>A | CA426701115 | DYSF | c.1524G>A (p.Leu508=) c.1578G>A (p.Val526=) c.1527G>A (p.Leu509=) c.1575G>A (p.Val525=) c.1620G>A (p.Leu540=) c.1485G>A (p.Val495=) c.1617G>A (p.Leu539=) c.1482G>A (p.Val494=) n.1778G>A | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.71551042G>C | CA347217287 | DYSF | c.1524G>C (p.Leu508Phe) c.1578G>C (p.Val526=) c.1527G>C (p.Leu509Phe) c.1575G>C (p.Val525=) c.1620G>C (p.Leu540Phe) c.1485G>C (p.Val495=) c.1617G>C (p.Leu539Phe) c.1482G>C (p.Val494=) n.1778G>C | |
| 2 | g.71551042G= | CA1260094705 | DYSF | c.1524G= (p.Leu508=) c.1578G= (p.Val526=) c.1527G= (p.Leu509=) c.1575G= (p.Val525=) c.1620G= (p.Leu540=) c.1485G= (p.Val495=) c.1617G= (p.Leu539=) c.1482G= (p.Val494=) n.1778G= | |
| 2 | g.71551042G>T | CA347217288 | DYSF | c.1524G>T (p.Leu508Phe) c.1578G>T (p.Val526=) c.1527G>T (p.Leu509Phe) c.1575G>T (p.Val525=) c.1620G>T (p.Leu540Phe) c.1485G>T (p.Val495=) c.1617G>T (p.Leu539Phe) c.1482G>T (p.Val494=) n.1778G>T | |
| 2 | g.71551043G>A | CA347217291 | DYSF | c.1525G>A (p.Asp509Asn) c.1579G>A (p.Asp527Asn) c.1528G>A (p.Asp510Asn) c.1576G>A (p.Asp526Asn) c.1621G>A (p.Asp541Asn) c.1486G>A (p.Asp496Asn) c.1618G>A (p.Asp540Asn) c.1483G>A (p.Asp495Asn) n.1779G>A | |
| 2 | g.71551043G>C | CA347217290 | DYSF | c.1525G>C (p.Asp509His) c.1579G>C (p.Asp527His) c.1528G>C (p.Asp510His) c.1576G>C (p.Asp526His) c.1621G>C (p.Asp541His) c.1486G>C (p.Asp496His) c.1618G>C (p.Asp540His) c.1483G>C (p.Asp495His) n.1779G>C | |
| 2 | g.71551043G>T | CA347217289 | DYSF | c.1525G>T (p.Asp509Tyr) c.1579G>T (p.Asp527Tyr) c.1528G>T (p.Asp510Tyr) c.1576G>T (p.Asp526Tyr) c.1621G>T (p.Asp541Tyr) c.1486G>T (p.Asp496Tyr) c.1618G>T (p.Asp540Tyr) c.1483G>T (p.Asp495Tyr) n.1779G>T | |
| 2 | g.71551044A>C | CA347217292 | DYSF | c.1526A>C (p.Asp509Ala) c.1580A>C (p.Asp527Ala) c.1529A>C (p.Asp510Ala) c.1577A>C (p.Asp526Ala) c.1622A>C (p.Asp541Ala) c.1487A>C (p.Asp496Ala) c.1619A>C (p.Asp540Ala) c.1484A>C (p.Asp495Ala) n.1780A>C | |
| 2 | g.71551044A>G | CA347217294 | DYSF | c.1526A>G (p.Asp509Gly) c.1580A>G (p.Asp527Gly) c.1529A>G (p.Asp510Gly) c.1577A>G (p.Asp526Gly) c.1622A>G (p.Asp541Gly) c.1487A>G (p.Asp496Gly) c.1619A>G (p.Asp540Gly) c.1484A>G (p.Asp495Gly) n.1780A>G | |
| 2 | g.71551044A>T | CA347217293 | DYSF | c.1526A>T (p.Asp509Val) c.1580A>T (p.Asp527Val) c.1529A>T (p.Asp510Val) c.1577A>T (p.Asp526Val) c.1622A>T (p.Asp541Val) c.1487A>T (p.Asp496Val) c.1619A>T (p.Asp540Val) c.1484A>T (p.Asp495Val) n.1780A>T | |
| 2 | g.71551045del | CA2659545793 | DYSF | c.1527del (p.Asp509GlufsTer?) c.1581del (p.Asp527GlufsTer?) c.1530del (p.Asp510GlufsTer?) c.1578del (p.Asp526GlufsTer?) c.1623del (p.Asp541GlufsTer?) c.1488del (p.Asp496GlufsTer?) c.1620del (p.Asp540GlufsTer?) c.1485del (p.Asp495GlufsTer?) n.1781del | gnomAD v4 |
| 2 | g.71551045T>A | CA347217295 | DYSF | c.1527T>A (p.Asp509Glu) c.1581T>A (p.Asp527Glu) c.1530T>A (p.Asp510Glu) c.1578T>A (p.Asp526Glu) c.1623T>A (p.Asp541Glu) c.1488T>A (p.Asp496Glu) c.1620T>A (p.Asp540Glu) c.1485T>A (p.Asp495Glu) n.1781T>A | |
| 2 | g.71551045T>C | CA426701116 | DYSF | c.1527T>C (p.Asp509=) c.1581T>C (p.Asp527=) c.1530T>C (p.Asp510=) c.1578T>C (p.Asp526=) c.1623T>C (p.Asp541=) c.1488T>C (p.Asp496=) c.1620T>C (p.Asp540=) c.1485T>C (p.Asp495=) n.1781T>C | |
| 2 | g.71551045T>G | CA347217296 | DYSF | c.1527T>G (p.Asp509Glu) c.1581T>G (p.Asp527Glu) c.1530T>G (p.Asp510Glu) c.1578T>G (p.Asp526Glu) c.1623T>G (p.Asp541Glu) c.1488T>G (p.Asp496Glu) c.1620T>G (p.Asp540Glu) c.1485T>G (p.Asp495Glu) n.1781T>G | |
| 2 | g.71551046G>A | CA347217297 | DYSF | c.1528G>A (p.Asp510Asn) c.1582G>A (p.Asp528Asn) c.1531G>A (p.Asp511Asn) c.1579G>A (p.Asp527Asn) c.1624G>A (p.Asp542Asn) c.1489G>A (p.Asp497Asn) c.1621G>A (p.Asp541Asn) c.1486G>A (p.Asp496Asn) n.1782G>A | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.71551046G>C | CA347217298 | DYSF | c.1528G>C (p.Asp510His) c.1582G>C (p.Asp528His) c.1531G>C (p.Asp511His) c.1579G>C (p.Asp527His) c.1624G>C (p.Asp542His) c.1489G>C (p.Asp497His) c.1621G>C (p.Asp541His) c.1486G>C (p.Asp496His) n.1782G>C | |
| 2 | g.71551046G= | CA1260094706 | DYSF | c.1528G= (p.Asp510=) c.1582G= (p.Asp528=) c.1531G= (p.Asp511=) c.1579G= (p.Asp527=) c.1624G= (p.Asp542=) c.1489G= (p.Asp497=) c.1621G= (p.Asp541=) c.1486G= (p.Asp496=) n.1782G= | |
| 2 | g.71551046G>T | CA347217299 | DYSF | c.1528G>T (p.Asp510Tyr) c.1582G>T (p.Asp528Tyr) c.1531G>T (p.Asp511Tyr) c.1579G>T (p.Asp527Tyr) c.1624G>T (p.Asp542Tyr) c.1489G>T (p.Asp497Tyr) c.1621G>T (p.Asp541Tyr) c.1486G>T (p.Asp496Tyr) n.1782G>T | |
| 2 | g.71551047A>C | CA347217300 | DYSF | c.1529A>C (p.Asp510Ala) c.1583A>C (p.Asp528Ala) c.1532A>C (p.Asp511Ala) c.1580A>C (p.Asp527Ala) c.1625A>C (p.Asp542Ala) c.1490A>C (p.Asp497Ala) c.1622A>C (p.Asp541Ala) c.1487A>C (p.Asp496Ala) n.1783A>C | |
| 2 | g.71551047A>G | CA347217301 | DYSF | c.1529A>G (p.Asp510Gly) c.1583A>G (p.Asp528Gly) c.1532A>G (p.Asp511Gly) c.1580A>G (p.Asp527Gly) c.1625A>G (p.Asp542Gly) c.1490A>G (p.Asp497Gly) c.1622A>G (p.Asp541Gly) c.1487A>G (p.Asp496Gly) n.1783A>G | |
| 2 | g.71551047A>T | CA347217302 | DYSF | c.1529A>T (p.Asp510Val) c.1583A>T (p.Asp528Val) c.1532A>T (p.Asp511Val) c.1580A>T (p.Asp527Val) c.1625A>T (p.Asp542Val) c.1490A>T (p.Asp497Val) c.1622A>T (p.Asp541Val) c.1487A>T (p.Asp496Val) n.1783A>T | |
| 2 | g.71551048C>A | CA347217303 | DYSF | c.1530C>A (p.Asp510Glu) c.1584C>A (p.Asp528Glu) c.1533C>A (p.Asp511Glu) c.1581C>A (p.Asp527Glu) c.1626C>A (p.Asp542Glu) c.1491C>A (p.Asp497Glu) c.1623C>A (p.Asp541Glu) c.1488C>A (p.Asp496Glu) n.1784C>A | |
| 2 | g.71551048C>G | CA347217304 | DYSF | c.1530C>G (p.Asp510Glu) c.1584C>G (p.Asp528Glu) c.1533C>G (p.Asp511Glu) c.1581C>G (p.Asp527Glu) c.1626C>G (p.Asp542Glu) c.1491C>G (p.Asp497Glu) c.1623C>G (p.Asp541Glu) c.1488C>G (p.Asp496Glu) n.1784C>G | gnomAD v4 |
| 2 | g.71551048C>T | CA426701117 | DYSF | c.1530C>T (p.Asp510=) c.1584C>T (p.Asp528=) c.1533C>T (p.Asp511=) c.1581C>T (p.Asp527=) c.1626C>T (p.Asp542=) c.1491C>T (p.Asp497=) c.1623C>T (p.Asp541=) c.1488C>T (p.Asp496=) n.1784C>T | |
| 2 | g.71551049T>A | CA347217305 | DYSF | c.1531T>A (p.Tyr511Asn) c.1585T>A (p.Tyr529Asn) c.1534T>A (p.Tyr512Asn) c.1582T>A (p.Tyr528Asn) c.1627T>A (p.Tyr543Asn) c.1492T>A (p.Tyr498Asn) c.1624T>A (p.Tyr542Asn) c.1489T>A (p.Tyr497Asn) n.1785T>A | |
| 2 | g.71551049T>C | CA347217306 | DYSF | c.1531T>C (p.Tyr511His) c.1585T>C (p.Tyr529His) c.1534T>C (p.Tyr512His) c.1582T>C (p.Tyr528His) c.1627T>C (p.Tyr543His) c.1492T>C (p.Tyr498His) c.1624T>C (p.Tyr542His) c.1489T>C (p.Tyr497His) n.1785T>C | |
| 2 | g.71551049T>G | CA347217307 | DYSF | c.1531T>G (p.Tyr511Asp) c.1585T>G (p.Tyr529Asp) c.1534T>G (p.Tyr512Asp) c.1582T>G (p.Tyr528Asp) c.1627T>G (p.Tyr543Asp) c.1492T>G (p.Tyr498Asp) c.1624T>G (p.Tyr542Asp) c.1489T>G (p.Tyr497Asp) n.1785T>G | |
| 2 | g.71551050A= | CA1260094707 | DYSF | c.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= | |
| 2 | g.71551050A>C | CA347217310 | DYSF | c.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 | |
| 2 | g.71551050A>G | CA347217309 | DYSF | c.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 | |
| 2 | g.71551050A>T | CA347217308 | DYSF | c.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 |
| 2 | g.71551051C>A | CA347217311 | DYSF | c.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 | |
| 2 | g.71551051C>G | CA347217312 | DYSF | c.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 |
| 2 | g.71551051C>T | CA426701118 | DYSF | c.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 | |
| 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 |