Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.133753819G>A | CA414706060 | GPC3 | c.*283C>T (n.*283C>T) c.647C>T (p.Ala216Val) c.695C>T (p.Ala232Val) c.533C>T (p.Ala178Val) | ClinVar dbSNP |
X | g.133753819G>C | CA414706061 | GPC3 | c.*283C>G (n.*283C>G) c.647C>G (p.Ala216Gly) c.695C>G (p.Ala232Gly) c.533C>G (p.Ala178Gly) | |
X | g.133753819G= | CA2459503299 | GPC3 | c.*283C= (n.*283C=) c.647C= (p.Ala216=) c.695C= (p.Ala232=) c.533C= (p.Ala178=) | |
X | g.133753819G>T | CA414706062 | GPC3 | c.*283C>A (n.*283C>A) c.647C>A (p.Ala216Asp) c.695C>A (p.Ala232Asp) c.533C>A (p.Ala178Asp) | ClinVar dbSNP |
X | g.133753820C>A | CA414706065 | GPC3 | c.*282G>T (n.*282G>T) c.646G>T (p.Ala216Ser) c.694G>T (p.Ala232Ser) c.532G>T (p.Ala178Ser) | gnomAD v4 |
X | g.133753820C>G | CA414706064 | GPC3 | c.*282G>C (n.*282G>C) c.646G>C (p.Ala216Pro) c.694G>C (p.Ala232Pro) c.532G>C (p.Ala178Pro) | |
X | g.133753820C>T | CA414706063 | GPC3 | c.*282G>A (n.*282G>A) c.646G>A (p.Ala216Thr) c.694G>A (p.Ala232Thr) c.532G>A (p.Ala178Thr) | |
X | g.133753821C>A | CA414706066 | GPC3 | c.*281G>T (n.*281G>T) c.645G>T (p.Gln215His) c.693G>T (p.Gln231His) c.531G>T (p.Gln177His) | |
X | g.133753821C= | CA2459503300 | GPC3 | c.*281G= (n.*281G=) c.645G= (p.Gln215=) c.693G= (p.Gln231=) c.531G= (p.Gln177=) | |
X | g.133753821C>G | CA414706067 | GPC3 | c.*281G>C (n.*281G>C) c.645G>C (p.Gln215His) c.693G>C (p.Gln231His) c.531G>C (p.Gln177His) | |
X | g.133753821C>T | CA10520806 | GPC3 | c.*281G>A (n.*281G>A) c.645G>A (p.Gln215=) c.693G>A (p.Gln231=) c.531G>A (p.Gln177=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.133753822T>A | CA414706068 | GPC3 | c.*280A>T (n.*280A>T) c.644A>T (p.Gln215Leu) c.692A>T (p.Gln231Leu) c.530A>T (p.Gln177Leu) | |
X | g.133753822T>C | CA414706069 | GPC3 | c.*280A>G (n.*280A>G) c.644A>G (p.Gln215Arg) c.692A>G (p.Gln231Arg) c.530A>G (p.Gln177Arg) | |
X | g.133753822T>G | CA414706070 | GPC3 | c.*280A>C (n.*280A>C) c.644A>C (p.Gln215Pro) c.692A>C (p.Gln231Pro) c.530A>C (p.Gln177Pro) | |
X | g.133753823G>A | CA414706071 | GPC3 | c.*279C>T (n.*279C>T) c.643C>T (p.Gln215Ter) c.691C>T (p.Gln231Ter) c.529C>T (p.Gln177Ter) | |
X | g.133753823G>C | CA414706072 | GPC3 | c.*279C>G (n.*279C>G) c.643C>G (p.Gln215Glu) c.691C>G (p.Gln231Glu) c.529C>G (p.Gln177Glu) | |
X | g.133753823G>T | CA414706073 | GPC3 | c.*279C>A (n.*279C>A) c.643C>A (p.Gln215Lys) c.691C>A (p.Gln231Lys) c.529C>A (p.Gln177Lys) | |
X | g.133753824A>C | CA518852600 | GPC3 | c.*278T>G (n.*278T>G) c.642T>G (p.Leu214=) c.690T>G (p.Leu230=) c.528T>G (p.Leu176=) | |
X | g.133753824A>G | CA518852601 | GPC3 | c.*278T>C (n.*278T>C) c.642T>C (p.Leu214=) c.690T>C (p.Leu230=) c.528T>C (p.Leu176=) | |
X | g.133753824A>T | CA518852602 | GPC3 | c.*278T>A (n.*278T>A) c.642T>A (p.Leu214=) c.690T>A (p.Leu230=) c.528T>A (p.Leu176=) | |
X | g.133753825A>C | CA414706074 | GPC3 | c.*277T>G (n.*277T>G) c.641T>G (p.Leu214Arg) c.689T>G (p.Leu230Arg) c.527T>G (p.Leu176Arg) | COSMIC COSMIC |
X | g.133753825A>G | CA414706075 | GPC3 | c.*277T>C (n.*277T>C) c.641T>C (p.Leu214Pro) c.689T>C (p.Leu230Pro) c.527T>C (p.Leu176Pro) | |
X | g.133753825A>T | CA414706076 | GPC3 | c.*277T>A (n.*277T>A) c.641T>A (p.Leu214His) c.689T>A (p.Leu230His) c.527T>A (p.Leu176His) | |
X | g.133753826G>A | CA414706079 | GPC3 | c.*276C>T (n.*276C>T) c.640C>T (p.Leu214Phe) c.688C>T (p.Leu230Phe) c.526C>T (p.Leu176Phe) | |
X | g.133753826G>C | CA414706078 | GPC3 | c.*276C>G (n.*276C>G) c.640C>G (p.Leu214Val) c.688C>G (p.Leu230Val) c.526C>G (p.Leu176Val) | |
X | g.133753826G>T | CA414706077 | GPC3 | c.*276C>A (n.*276C>A) c.640C>A (p.Leu214Ile) c.688C>A (p.Leu230Ile) c.526C>A (p.Leu176Ile) | |
X | g.133753826_133753840delinsT | CA2695236005 | GPC3 | c.*262_*276delinsA (n.*262_*276delinsA) c.626_640delinsA (p.Val209AspfsTer9) c.674_688delinsA (p.Val225AspfsTer9) c.512_526delinsA (p.Val171AspfsTer9) | |
X | g.133753827G>A | CA518852603 | GPC3 | c.*275C>T (n.*275C>T) c.639C>T (p.Phe213=) c.687C>T (p.Phe229=) c.525C>T (p.Phe175=) | ClinVar dbSNP gnomAD v4 |
X | g.133753827G>C | CA414706080 | GPC3 | c.*275C>G (n.*275C>G) c.639C>G (p.Phe213Leu) c.687C>G (p.Phe229Leu) c.525C>G (p.Phe175Leu) | |
X | g.133753827G>T | CA414706081 | GPC3 | c.*275C>A (n.*275C>A) c.639C>A (p.Phe213Leu) c.687C>A (p.Phe229Leu) c.525C>A (p.Phe175Leu) | |
X | g.133753828A>C | CA414706082 | GPC3 | c.*274T>G (n.*274T>G) c.638T>G (p.Phe213Cys) c.686T>G (p.Phe229Cys) c.524T>G (p.Phe175Cys) | |
X | g.133753828A>G | CA414706083 | GPC3 | c.*274T>C (n.*274T>C) c.638T>C (p.Phe213Ser) c.686T>C (p.Phe229Ser) c.524T>C (p.Phe175Ser) | |
X | g.133753828A>T | CA414706084 | GPC3 | c.*274T>A (n.*274T>A) c.638T>A (p.Phe213Tyr) c.686T>A (p.Phe229Tyr) c.524T>A (p.Phe175Tyr) | |
X | g.133753829A>C | CA414706085 | GPC3 | c.*273T>G (n.*273T>G) c.637T>G (p.Phe213Val) c.685T>G (p.Phe229Val) c.523T>G (p.Phe175Val) | |
X | g.133753829A>G | CA414706086 | GPC3 | c.*273T>C (n.*273T>C) c.637T>C (p.Phe213Leu) c.685T>C (p.Phe229Leu) c.523T>C (p.Phe175Leu) | |
X | g.133753829A>T | CA414706087 | GPC3 | c.*273T>A (n.*273T>A) c.637T>A (p.Phe213Ile) c.685T>A (p.Phe229Ile) c.523T>A (p.Phe175Ile) | |
X | g.133753830G>A | CA518852604 | GPC3 | c.*272C>T (n.*272C>T) c.636C>T (p.Ile212=) c.684C>T (p.Ile228=) c.522C>T (p.Ile174=) | |
X | g.133753830G>C | CA414706088 | GPC3 | c.*272C>G (n.*272C>G) c.636C>G (p.Ile212Met) c.684C>G (p.Ile228Met) c.522C>G (p.Ile174Met) | |
X | g.133753830G>T | CA518852605 | GPC3 | c.*272C>A (n.*272C>A) c.636C>A (p.Ile212=) c.684C>A (p.Ile228=) c.522C>A (p.Ile174=) | |
X | g.133753831A>C | CA414706089 | GPC3 | c.*271T>G (n.*271T>G) c.635T>G (p.Ile212Ser) c.683T>G (p.Ile228Ser) c.521T>G (p.Ile174Ser) | |
X | g.133753831A>G | CA414706090 | GPC3 | c.*271T>C (n.*271T>C) c.635T>C (p.Ile212Thr) c.683T>C (p.Ile228Thr) c.521T>C (p.Ile174Thr) | |
X | g.133753831A>T | CA414706091 | GPC3 | c.*271T>A (n.*271T>A) c.635T>A (p.Ile212Asn) c.683T>A (p.Ile228Asn) c.521T>A (p.Ile174Asn) | |
X | g.133753832T>A | CA414706093 | GPC3 | c.*270A>T (n.*270A>T) c.634A>T (p.Ile212Phe) c.682A>T (p.Ile228Phe) c.520A>T (p.Ile174Phe) | ClinVar dbSNP |
X | g.133753832T>C | CA414706092 | GPC3 | c.*270A>G (n.*270A>G) c.634A>G (p.Ile212Val) c.682A>G (p.Ile228Val) c.520A>G (p.Ile174Val) | ClinVar |
X | g.133753832T>G | CA10520807 | GPC3 | c.*270A>C (n.*270A>C) c.634A>C (p.Ile212Leu) c.682A>C (p.Ile228Leu) c.520A>C (p.Ile174Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.133753832T= | CA2459503301 | GPC3 | c.*270A= (n.*270A=) c.634A= (p.Ile212=) c.682A= (p.Ile228=) c.520A= (p.Ile174=) | |
X | g.133753833C>A | CA414706094 | GPC3 | c.*269G>T (n.*269G>T) c.633G>T (p.Arg211Ser) c.681G>T (p.Arg227Ser) c.519G>T (p.Arg173Ser) | |
X | g.133753833C>G | CA414706095 | GPC3 | c.*269G>C (n.*269G>C) c.633G>C (p.Arg211Ser) c.681G>C (p.Arg227Ser) c.519G>C (p.Arg173Ser) | |
X | g.133753833C>T | CA518852606 | GPC3 | c.*269G>A (n.*269G>A) c.633G>A (p.Arg211=) c.681G>A (p.Arg227=) c.519G>A (p.Arg173=) | gnomAD v4 |
X | g.133753834C>A | CA414706096 | GPC3 | c.*268G>T (n.*268G>T) c.632G>T (p.Arg211Met) c.680G>T (p.Arg227Met) c.518G>T (p.Arg173Met) |