Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.64751404C>A | CA474958894 | PYGM | c.1890G>T (p.Val630=) c.1626G>T (p.Val542=) n.214G>T | |
11 | g.64751404C>G | CA474958895 | PYGM | c.1890G>C (p.Val630=) c.1626G>C (p.Val542=) n.214G>C | |
11 | g.64751404C>T | CA474958896 | PYGM | c.1890G>A (p.Val630=) c.1626G>A (p.Val542=) n.214G>A | |
11 | g.64751405A>C | CA381169110 | PYGM | c.1889T>G (p.Val630Gly) c.1625T>G (p.Val542Gly) n.213T>G | |
11 | g.64751405A>G | CA381169113 | PYGM | c.1889T>C (p.Val630Ala) c.1625T>C (p.Val542Ala) n.213T>C | gnomAD v4 |
11 | g.64751405A>T | CA381169115 | PYGM | c.1889T>A (p.Val630Glu) c.1625T>A (p.Val542Glu) n.213T>A | |
11 | g.64751406C>A | CA381169122 | PYGM | c.1888G>T (p.Val630Leu) c.1624G>T (p.Val542Leu) n.212G>T | |
11 | g.64751406C= | CA1978916173 | PYGM | c.1888G= (p.Val630=) c.1624G= (p.Val542=) n.212G= | |
11 | g.64751406C>G | CA381169119 | PYGM | c.1888G>C (p.Val630Leu) c.1624G>C (p.Val542Leu) n.212G>C | |
11 | g.64751406C>T | CA6079683 | PYGM | c.1888G>A (p.Val630Met) c.1624G>A (p.Val542Met) n.212G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64751407A>C | CA381169124 | PYGM | c.1887T>G (p.Asp629Glu) c.1623T>G (p.Asp541Glu) n.211T>G | |
11 | g.64751407A>G | CA474958897 | PYGM | c.1887T>C (p.Asp629=) c.1623T>C (p.Asp541=) n.211T>C | |
11 | g.64751407A>T | CA381169126 | PYGM | c.1887T>A (p.Asp629Glu) c.1623T>A (p.Asp541Glu) n.211T>A | |
11 | g.64751408T>A | CA381169128 | PYGM | c.1886A>T (p.Asp629Val) c.1622A>T (p.Asp541Val) n.210A>T | |
11 | g.64751408T>C | CA381169129 | PYGM | c.1886A>G (p.Asp629Gly) c.1622A>G (p.Asp541Gly) n.210A>G | ClinVar dbSNP |
11 | g.64751408T>G | CA381169131 | PYGM | c.1886A>C (p.Asp629Ala) c.1622A>C (p.Asp541Ala) n.210A>C | dbSNP |
11 | g.64751408T= | CA1978916187 | PYGM | c.1886A= (p.Asp629=) c.1622A= (p.Asp541=) n.210A= | |
11 | g.64751409C>A | CA6079684 | PYGM | c.1885G>T (p.Asp629Tyr) c.1621G>T (p.Asp541Tyr) n.209G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64751409C= | CA1978916190 | PYGM | c.1885G= (p.Asp629=) c.1621G= (p.Asp541=) n.209G= | |
11 | g.64751409C>G | CA381169136 | PYGM | c.1885G>C (p.Asp629His) c.1621G>C (p.Asp541His) n.209G>C | |
11 | g.64751409C>T | CA381169134 | PYGM | c.1885G>A (p.Asp629Asn) c.1621G>A (p.Asp541Asn) n.209G>A | gnomAD v4 |
11 | g.64751410C>A | CA474958898 | PYGM | c.1884G>T (p.Gly628=) c.1620G>T (p.Gly540=) n.208G>T | |
11 | g.64751410C>G | CA474958899 | PYGM | c.1884G>C (p.Gly628=) c.1620G>C (p.Gly540=) n.208G>C | |
11 | g.64751410C>T | CA474958900 | PYGM | c.1884G>A (p.Gly628=) c.1620G>A (p.Gly540=) n.208G>A | |
11 | g.64751411C>A | CA381169138 | PYGM | c.1883G>T (p.Gly628Val) c.1619G>T (p.Gly540Val) n.207G>T | |
11 | g.64751411C= | CA1978916192 | PYGM | c.1883G= (p.Gly628=) c.1619G= (p.Gly540=) n.207G= | |
11 | g.64751411C>G | CA381169140 | PYGM | c.1883G>C (p.Gly628Ala) c.1619G>C (p.Gly540Ala) n.207G>C | |
11 | g.64751411C>T | CA223898274 | PYGM | c.1883G>A (p.Gly628Glu) c.1619G>A (p.Gly540Glu) n.207G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64751412C>A | CA381169143 | PYGM | c.1882G>T (p.Gly628Trp) c.1618G>T (p.Gly540Trp) n.206G>T | |
11 | g.64751412C= | CA1978916193 | PYGM | c.1882G= (p.Gly628=) c.1618G= (p.Gly540=) n.206G= | |
11 | g.64751412C>G | CA381169145 | PYGM | c.1882G>C (p.Gly628Arg) c.1618G>C (p.Gly540Arg) n.206G>C | |
11 | g.64751412C>T | CA6079685 | PYGM | c.1882G>A (p.Gly628Arg) c.1618G>A (p.Gly540Arg) n.206G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64751413G>A | CA6079686 | PYGM | c.1881C>T (p.Ile627=) c.1617C>T (p.Ile539=) n.205C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64751413G>C | CA381169149 | PYGM | c.1881C>G (p.Ile627Met) c.1617C>G (p.Ile539Met) n.205C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64751413G= | CA1978916199 | PYGM | c.1881C= (p.Ile627=) c.1617C= (p.Ile539=) n.205C= | |
11 | g.64751413G>T | CA474958901 | PYGM | c.1881C>A (p.Ile627=) c.1617C>A (p.Ile539=) n.205C>A | COSMIC |
11 | g.64751414A= | CA1978916203 | PYGM | c.1880T= (p.Ile627=) c.1616T= (p.Ile539=) n.204T= | |
11 | g.64751414A>C | CA381169151 | PYGM | c.1880T>G (p.Ile627Ser) c.1616T>G (p.Ile539Ser) n.204T>G | |
11 | g.64751414A>G | CA381169153 | PYGM | c.1880T>C (p.Ile627Thr) c.1616T>C (p.Ile539Thr) n.204T>C | gnomAD v4 |
11 | g.64751414A>T | CA6079687 | PYGM | c.1880T>A (p.Ile627Asn) c.1616T>A (p.Ile539Asn) n.204T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64751415T>A | CA381169159 | PYGM | c.1879A>T (p.Ile627Phe) c.1615A>T (p.Ile539Phe) n.203A>T | |
11 | g.64751415T>C | CA381169165 | PYGM | c.1879A>G (p.Ile627Val) c.1615A>G (p.Ile539Val) n.203A>G | gnomAD v4 |
11 | g.64751415T>G | CA381169162 | PYGM | c.1879A>C (p.Ile627Leu) c.1615A>C (p.Ile539Leu) n.203A>C | dbSNP |
11 | g.64751415T= | CA1978916204 | PYGM | c.1879A= (p.Ile627=) c.1615A= (p.Ile539=) n.203A= | |
11 | g.64751416G>A | CA6079688 | PYGM | c.1878C>T (p.Ala626=) c.1614C>T (p.Ala538=) n.202C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.64751416G>C | CA474958902 | PYGM | c.1878C>G (p.Ala626=) c.1614C>G (p.Ala538=) n.202C>G | |
11 | g.64751416G= | CA1978916208 | PYGM | c.1878C= (p.Ala626=) c.1614C= (p.Ala538=) n.202C= | |
11 | g.64751416G>T | CA474958903 | PYGM | c.1878C>A (p.Ala626=) c.1614C>A (p.Ala538=) n.202C>A | |
11 | g.64751417G>A | CA381169174 | PYGM | c.1877C>T (p.Ala626Val) c.1613C>T (p.Ala538Val) n.201C>T | |
11 | g.64751417G>C | CA381169170 | PYGM | c.1877C>G (p.Ala626Gly) c.1613C>G (p.Ala538Gly) n.201C>G |