Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.50921030C>A | CA389691923 | PYGL | c.698G>T (p.Gly233Val) c.596G>T (p.Gly199Val) n.499G>T | |
14 | g.50921030C= | CA2136421574 | PYGL | c.698G= (p.Gly233=) c.596G= (p.Gly199=) n.499G= | |
14 | g.50921030C>G | CA389691925 | PYGL | c.698G>C (p.Gly233Ala) c.596G>C (p.Gly199Ala) n.499G>C | |
14 | g.50921030C>T | CA341926 | PYGL | c.698G>A (p.Gly233Asp) c.596G>A (p.Gly199Asp) n.499G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.50921031C>A | CA7183706 | PYGL | c.697G>T (p.Gly233Cys) c.595G>T (p.Gly199Cys) n.498G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50921031C= | CA2136421575 | PYGL | c.697G= (p.Gly233=) c.595G= (p.Gly199=) n.498G= | |
14 | g.50921031C>G | CA389691932 | PYGL | c.697G>C (p.Gly233Arg) c.595G>C (p.Gly199Arg) n.498G>C | |
14 | g.50921031C>T | CA7183705 | PYGL | c.697G>A (p.Gly233Ser) c.595G>A (p.Gly199Ser) n.498G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.50921032G>A | CA7183707 | PYGL | c.696C>T (p.Pro232=) c.594C>T (p.Pro198=) n.497C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50921032G>C | CA486383886 | PYGL | c.696C>G (p.Pro232=) c.594C>G (p.Pro198=) n.497C>G | gnomAD v4 |
14 | g.50921032G= | CA2136421576 | PYGL | c.696C= (p.Pro232=) c.594C= (p.Pro198=) n.497C= | |
14 | g.50921032G>T | CA486383887 | PYGL | c.696C>A (p.Pro232=) c.594C>A (p.Pro198=) n.497C>A | |
14 | g.50921033G>A | CA389691941 | PYGL | c.695C>T (p.Pro232Leu) c.593C>T (p.Pro198Leu) n.496C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50921033G>C | CA389691944 | PYGL | c.695C>G (p.Pro232Arg) c.593C>G (p.Pro198Arg) n.496C>G | |
14 | g.50921033G= | CA2136421577 | PYGL | c.695C= (p.Pro232=) c.593C= (p.Pro198=) n.496C= | |
14 | g.50921033G>T | CA389691946 | PYGL | c.695C>A (p.Pro232His) c.593C>A (p.Pro198His) n.496C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50921034G>A | CA389691949 | PYGL | c.694C>T (p.Pro232Ser) c.592C>T (p.Pro198Ser) n.495C>T | dbSNP COSMIC |
14 | g.50921034G>C | CA389691952 | PYGL | c.694C>G (p.Pro232Ala) c.592C>G (p.Pro198Ala) n.495C>G | |
14 | g.50921034G= | CA2136421578 | PYGL | c.694C= (p.Pro232=) c.592C= (p.Pro198=) n.495C= | |
14 | g.50921034G>T | CA389691955 | PYGL | c.694C>A (p.Pro232Thr) c.592C>A (p.Pro198Thr) n.495C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50921035C>A | CA486383891 | PYGL | c.693G>T (p.Val231=) c.591G>T (p.Val197=) n.494G>T | |
14 | g.50921035C= | CA2136421579 | PYGL | c.693G= (p.Val231=) c.591G= (p.Val197=) n.494G= | |
14 | g.50921035C>G | CA486383892 | PYGL | c.693G>C (p.Val231=) c.591G>C (p.Val197=) n.494G>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50921035C>T | CA486383893 | PYGL | c.693G>A (p.Val231=) c.591G>A (p.Val197=) n.494G>A | |
14 | g.50921036A= | CA2136421580 | PYGL | c.692T= (p.Val231=) c.590T= (p.Val197=) n.493T= | |
14 | g.50921036A>C | CA389691970 | PYGL | c.692T>G (p.Val231Gly) c.590T>G (p.Val197Gly) n.493T>G | |
14 | g.50921036A>G | CA389691958 | PYGL | c.692T>C (p.Val231Ala) c.590T>C (p.Val197Ala) n.493T>C | |
14 | g.50921036A>T | CA260830365 | PYGL | c.692T>A (p.Val231Glu) c.590T>A (p.Val197Glu) n.493T>A | dbSNP |
14 | g.50921037C>A | CA389691971 | PYGL | c.691G>T (p.Val231Leu) c.589G>T (p.Val197Leu) n.492G>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50921037C= | CA2136421581 | PYGL | c.691G= (p.Val231=) c.589G= (p.Val197=) n.492G= | |
14 | g.50921037C>G | CA389691972 | PYGL | c.691G>C (p.Val231Leu) c.589G>C (p.Val197Leu) n.492G>C | dbSNP gnomAD v2 |
14 | g.50921037C>T | CA7183708 | PYGL | c.691G>A (p.Val231Met) c.589G>A (p.Val197Met) n.492G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.50921038G>A | CA7183709 | PYGL | c.690C>T (p.Pro230=) c.588C>T (p.Pro196=) n.491C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50921038G>C | CA7183710 | PYGL | c.690C>G (p.Pro230=) c.588C>G (p.Pro196=) n.491C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50921038G= | CA2136421582 | PYGL | c.690C= (p.Pro230=) c.588C= (p.Pro196=) n.491C= | |
14 | g.50921038G>T | CA486383897 | PYGL | c.690C>A (p.Pro230=) c.588C>A (p.Pro196=) n.491C>A | gnomAD v4 |
14 | g.50921039G>A | CA389691979 | PYGL | c.689C>T (p.Pro230Leu) c.587C>T (p.Pro196Leu) n.490C>T | gnomAD v4 |
14 | g.50921039G>C | CA389691981 | PYGL | c.689C>G (p.Pro230Arg) c.587C>G (p.Pro196Arg) n.490C>G | |
14 | g.50921039G= | CA2136421583 | PYGL | c.689C= (p.Pro230=) c.587C= (p.Pro196=) n.490C= | |
14 | g.50921039G>T | CA389691984 | PYGL | c.689C>A (p.Pro230His) c.587C>A (p.Pro196His) n.490C>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50921040G>A | CA389691986 | PYGL | c.688C>T (p.Pro230Ser) c.586C>T (p.Pro196Ser) n.489C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50921040G>C | CA260830387 | PYGL | c.688C>G (p.Pro230Ala) c.586C>G (p.Pro196Ala) n.489C>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50921040G= | CA2136421584 | PYGL | c.688C= (p.Pro230=) c.586C= (p.Pro196=) n.489C= | |
14 | g.50921040G>T | CA389691989 | PYGL | c.688C>A (p.Pro230Thr) c.586C>A (p.Pro196Thr) n.489C>A | |
14 | g.50921041G>A | CA486383900 | PYGL | c.687C>T (p.Thr229=) c.585C>T (p.Thr195=) n.488C>T | dbSNP |
14 | g.50921041G>C | CA486383901 | PYGL | c.687C>G (p.Thr229=) c.585C>G (p.Thr195=) n.488C>G | |
14 | g.50921041G= | CA2136421585 | PYGL | c.687C= (p.Thr229=) c.585C= (p.Thr195=) n.488C= | |
14 | g.50921041G>T | CA486383899 | PYGL | c.687C>A (p.Thr229=) c.585C>A (p.Thr195=) n.488C>A | gnomAD v4 |
14 | g.50921042G>A | CA7183711 | PYGL | c.686C>T (p.Thr229Ile) c.584C>T (p.Thr195Ile) n.487C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50921042G>C | CA389691990 | PYGL | c.686C>G (p.Thr229Ser) c.584C>G (p.Thr195Ser) n.487C>G |