Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.64751393_64751401del | CA2695214467 | PYGM | c.1894_1902del (p.Asn632_Asp634del) c.1630_1638del (p.Asn544_Asp546del) n.218_226del | |
11 | g.64751397G>A | CA381169059 | PYGM | c.1897C>T (p.His633Tyr) c.1633C>T (p.His545Tyr) n.221C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.64751397G>C | CA381169063 | PYGM | c.1897C>G (p.His633Asp) c.1633C>G (p.His545Asp) n.221C>G | |
11 | g.64751397G= | CA1978916156 | PYGM | c.1897C= (p.His633=) c.1633C= (p.His545=) n.221C= | |
11 | g.64751397G>T | CA381169066 | PYGM | c.1897C>A (p.His633Asn) c.1633C>A (p.His545Asn) n.221C>A | |
11 | g.64751398G>A | CA474958890 | PYGM | c.1896C>T (p.Asn632=) c.1632C>T (p.Asn544=) n.220C>T | dbSNP gnomAD v2 |
11 | g.64751398G>C | CA381169074 | PYGM | c.1896C>G (p.Asn632Lys) c.1632C>G (p.Asn544Lys) n.220C>G | |
11 | g.64751398G= | CA1978916158 | PYGM | c.1896C= (p.Asn632=) c.1632C= (p.Asn544=) n.220C= | |
11 | g.64751398G>T | CA381169071 | PYGM | c.1896C>A (p.Asn632Lys) c.1632C>A (p.Asn544Lys) n.220C>A | |
11 | g.64751399T>A | CA381169078 | PYGM | c.1895A>T (p.Asn632Ile) c.1631A>T (p.Asn544Ile) n.219A>T | |
11 | g.64751399T>C | CA6079682 | PYGM | c.1895A>G (p.Asn632Ser) c.1631A>G (p.Asn544Ser) n.219A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.64751399T>G | CA381169081 | PYGM | c.1895A>C (p.Asn632Thr) c.1631A>C (p.Asn544Thr) n.219A>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.64751399T= | CA1978916163 | PYGM | c.1895A= (p.Asn632=) c.1631A= (p.Asn544=) n.219A= | |
11 | g.64751400T>A | CA381169085 | PYGM | c.1894A>T (p.Asn632Tyr) c.1630A>T (p.Asn544Tyr) n.218A>T | gnomAD v4 |
11 | g.64751400T>C | CA381169087 | PYGM | c.1894A>G (p.Asn632Asp) c.1630A>G (p.Asn544Asp) n.218A>G | |
11 | g.64751400T>G | CA381169091 | PYGM | c.1894A>C (p.Asn632His) c.1630A>C (p.Asn544His) n.218A>C | |
11 | g.64751401G>A | CA474958891 | PYGM | c.1893C>T (p.Val631=) c.1629C>T (p.Val543=) n.217C>T | dbSNP |
11 | g.64751401G>C | CA474958892 | PYGM | c.1893C>G (p.Val631=) c.1629C>G (p.Val543=) n.217C>G | |
11 | g.64751401G= | CA1978916165 | PYGM | c.1893C= (p.Val631=) c.1629C= (p.Val543=) n.217C= | |
11 | g.64751401G>T | CA474958893 | PYGM | c.1893C>A (p.Val631=) c.1629C>A (p.Val543=) n.217C>A | gnomAD v4 |
11 | g.64751402A>C | CA381169094 | PYGM | c.1892T>G (p.Val631Gly) c.1628T>G (p.Val543Gly) n.216T>G | |
11 | g.64751402A>G | CA381169099 | PYGM | c.1892T>C (p.Val631Ala) c.1628T>C (p.Val543Ala) n.216T>C | |
11 | g.64751402A>T | CA381169096 | PYGM | c.1892T>A (p.Val631Asp) c.1628T>A (p.Val543Asp) n.216T>A | |
11 | g.64751403C>A | CA381169104 | PYGM | c.1891G>T (p.Val631Phe) c.1627G>T (p.Val543Phe) n.215G>T | |
11 | g.64751403C>G | CA381169105 | PYGM | c.1891G>C (p.Val631Leu) c.1627G>C (p.Val543Leu) n.215G>C | |
11 | g.64751403C>T | CA381169107 | PYGM | c.1891G>A (p.Val631Ile) c.1627G>A (p.Val543Ile) n.215G>A | |
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 |