Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31079850G>A | CA10581489 | DSC2 | c.1231C>T (p.Gln411Ter) c.1660C>T (p.Gln554Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.31079850G>C | CA402107685 | DSC2 | c.1231C>G (p.Gln411Glu) c.1660C>G (p.Gln554Glu) | |
18 | g.31079850G= | CA2293650800 | DSC2 | c.1231C= (p.Gln411=) c.1660C= (p.Gln554=) | |
18 | g.31079850G>T | CA402107686 | DSC2 | c.1231C>A (p.Gln411Lys) c.1660C>A (p.Gln554Lys) | |
18 | g.31079851G>A | CA503527238 | DSC2 | c.1230C>T (p.Asp410=) c.1659C>T (p.Asp553=) | |
18 | g.31079851G>C | CA402107687 | DSC2 | c.1230C>G (p.Asp410Glu) c.1659C>G (p.Asp553Glu) | |
18 | g.31079851G>T | CA402107688 | DSC2 | c.1230C>A (p.Asp410Glu) c.1659C>A (p.Asp553Glu) | |
18 | g.31079852T>A | CA402107689 | DSC2 | c.1229A>T (p.Asp410Val) c.1658A>T (p.Asp553Val) | |
18 | g.31079852T>C | CA032479 | DSC2 | c.1229A>G (p.Asp410Gly) c.1658A>G (p.Asp553Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31079852T>G | CA402107690 | DSC2 | c.1229A>C (p.Asp410Ala) c.1658A>C (p.Asp553Ala) | |
18 | g.31079852T= | CA2293650801 | DSC2 | c.1229A= (p.Asp410=) c.1658A= (p.Asp553=) | |
18 | g.31079853C>A | CA402107692 | DSC2 | c.1228G>T (p.Asp410Tyr) c.1657G>T (p.Asp553Tyr) | |
18 | g.31079853C= | CA2293650802 | DSC2 | c.1228G= (p.Asp410=) c.1657G= (p.Asp553=) | |
18 | g.31079853C>G | CA402107693 | DSC2 | c.1228G>C (p.Asp410His) c.1657G>C (p.Asp553His) | |
18 | g.31079853C>T | CA402107691 | DSC2 | c.1228G>A (p.Asp410Asn) c.1657G>A (p.Asp553Asn) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31079854T>A | CA503527242 | DSC2 | c.1227A>T (p.Ser409=) c.1656A>T (p.Ser552=) | |
18 | g.31079854T>C | CA503527243 | DSC2 | c.1227A>G (p.Ser409=) c.1656A>G (p.Ser552=) | |
18 | g.31079854T>G | CA503527244 | DSC2 | c.1227A>C (p.Ser409=) c.1656A>C (p.Ser552=) | |
18 | g.31079855G>A | CA402107695 | DSC2 | c.1226C>T (p.Ser409Leu) c.1655C>T (p.Ser552Leu) | |
18 | g.31079855G>C | CA032464 | DSC2 | c.1226C>G (p.Ser409Ter) c.1655C>G (p.Ser552Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31079855G= | CA2293650803 | DSC2 | c.1226C= (p.Ser409=) c.1655C= (p.Ser552=) | |
18 | g.31079855G>T | CA402107694 | DSC2 | c.1226C>A (p.Ser409Ter) c.1655C>A (p.Ser552Ter) | |
18 | g.31079855_31079856insTAAGACCAAG | CA2641387063 | DSC2 | c.1226_1227insTTGGTCTTAC (p.Asp410TrpfsTer23) c.1655_1656insTTGGTCTTAC (p.Asp553TrpfsTer23) | gnomAD v4 |
18 | g.31079856A>C | CA402107696 | DSC2 | c.1225T>G (p.Ser409Ala) c.1654T>G (p.Ser552Ala) | |
18 | g.31079856A>G | CA402107697 | DSC2 | c.1225T>C (p.Ser409Pro) c.1654T>C (p.Ser552Pro) | |
18 | g.31079856A>T | CA402107698 | DSC2 | c.1225T>A (p.Ser409Thr) c.1654T>A (p.Ser552Thr) | |
18 | g.31079857T>A | CA503527245 | DSC2 | c.1224A>T (p.Ala408=) c.1653A>T (p.Ala551=) | |
18 | g.31079857T>C | CA297636912 | DSC2 | c.1224A>G (p.Ala408=) c.1653A>G (p.Ala551=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
18 | g.31079857T>G | CA503527246 | DSC2 | c.1224A>C (p.Ala408=) c.1653A>C (p.Ala551=) | |
18 | g.31079857T= | CA2293650804 | DSC2 | c.1224A= (p.Ala408=) c.1653A= (p.Ala551=) | |
18 | g.31079858G>A | CA402107708 | DSC2 | c.1223C>T (p.Ala408Val) c.1652C>T (p.Ala551Val) | dbSNP |
18 | g.31079858G>C | CA402107706 | DSC2 | c.1223C>G (p.Ala408Gly) c.1652C>G (p.Ala551Gly) | |
18 | g.31079858G= | CA2293650805 | DSC2 | c.1223C= (p.Ala408=) c.1652C= (p.Ala551=) | |
18 | g.31079858G>T | CA402107705 | DSC2 | c.1223C>A (p.Ala408Glu) c.1652C>A (p.Ala551Glu) | |
18 | g.31079859C>A | CA402107711 | DSC2 | c.1222G>T (p.Ala408Ser) c.1651G>T (p.Ala551Ser) | |
18 | g.31079859C= | CA2293650806 | DSC2 | c.1222G= (p.Ala408=) c.1651G= (p.Ala551=) | |
18 | g.31079859C>G | CA402107712 | DSC2 | c.1222G>C (p.Ala408Pro) c.1651G>C (p.Ala551Pro) | |
18 | g.31079859C>T | CA402107715 | DSC2 | c.1222G>A (p.Ala408Thr) c.1651G>A (p.Ala551Thr) | ClinVar dbSNP |
18 | g.31079860A>C | CA503527251 | DSC2 | c.1221T>G (p.Leu407=) c.1650T>G (p.Leu550=) | |
18 | g.31079860A>G | CA503527252 | DSC2 | c.1221T>C (p.Leu407=) c.1650T>C (p.Leu550=) | |
18 | g.31079860A>T | CA503527250 | DSC2 | c.1221T>A (p.Leu407=) c.1650T>A (p.Leu550=) | |
18 | g.31079861A>C | CA402107717 | DSC2 | c.1220T>G (p.Leu407Arg) c.1649T>G (p.Leu550Arg) | |
18 | g.31079861A>G | CA402107718 | DSC2 | c.1220T>C (p.Leu407Pro) c.1649T>C (p.Leu550Pro) | |
18 | g.31079861A>T | CA402107720 | DSC2 | c.1220T>A (p.Leu407His) c.1649T>A (p.Leu550His) | |
18 | g.31079862G>A | CA402107722 | DSC2 | c.1219C>T (p.Leu407Phe) c.1648C>T (p.Leu550Phe) | COSMIC COSMIC |
18 | g.31079862G>C | CA402107725 | DSC2 | c.1219C>G (p.Leu407Val) c.1648C>G (p.Leu550Val) | |
18 | g.31079862G>T | CA402107724 | DSC2 | c.1219C>A (p.Leu407Ile) c.1648C>A (p.Leu550Ile) | |
18 | g.31079863G>A | CA503527256 | DSC2 | c.1218C>T (p.Val406=) c.1647C>T (p.Val549=) | ClinVar dbSNP gnomAD v4 |
18 | g.31079863G>C | CA503527254 | DSC2 | c.1218C>G (p.Val406=) c.1647C>G (p.Val549=) | |
18 | g.31079863G>T | CA503527255 | DSC2 | c.1218C>A (p.Val406=) c.1647C>A (p.Val549=) |