Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.96253903_96254383delCA2573135942TMEM127c.410-265_625del
c.158-265_373del
c.-509-265_-294del
 ClinVar dbSNP
2g.96253919C>ACA52411971TMEM127c.606G>T (p.Glu202Asp)
c.354G>T (p.Glu118Asp)
c.-313G>T (n.-313G>T)
 dbSNP
2g.96253919C=CA1272522061TMEM127c.606G= (p.Glu202=)
c.354G= (p.Glu118=)
c.-313G= (n.-313G=)
2g.96253919C>GCA347652002TMEM127c.606G>C (p.Glu202Asp)
c.354G>C (p.Glu118Asp)
c.-313G>C (n.-313G>C)
 dbSNP
2g.96253919C>TCA1777272TMEM127c.606G>A (p.Glu202=)
c.354G>A (p.Glu118=)
c.-313G>A (n.-313G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96253920T>ACA347652007TMEM127c.605A>T (p.Glu202Val)
c.353A>T (p.Glu118Val)
c.-314A>T (n.-314A>T)
2g.96253920T>CCA347652008TMEM127c.605A>G (p.Glu202Gly)
c.353A>G (p.Glu118Gly)
c.-314A>G (n.-314A>G)
 ClinVar
2g.96253920T>GCA347652015TMEM127c.605A>C (p.Glu202Ala)
c.353A>C (p.Glu118Ala)
c.-314A>C (n.-314A>C)
2g.96253921C>ACA347652017TMEM127c.604G>T (p.Glu202Ter)
c.352G>T (p.Glu118Ter)
c.-315G>T (n.-315G>T)
2g.96253921C=CA1272522062TMEM127c.604G= (p.Glu202=)
c.352G= (p.Glu118=)
c.-315G= (n.-315G=)
2g.96253921C>GCA347652018TMEM127c.604G>C (p.Glu202Gln)
c.352G>C (p.Glu118Gln)
c.-315G>C (n.-315G>C)
 dbSNP
2g.96253921C>TCA347652022TMEM127c.604G>A (p.Glu202Lys)
c.352G>A (p.Glu118Lys)
c.-315G>A (n.-315G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.96253922T>ACA427807834TMEM127c.603A>T (p.Thr201=)
c.351A>T (p.Thr117=)
c.-316A>T (n.-316A>T)
2g.96253922T>CCA427807833TMEM127c.603A>G (p.Thr201=)
c.351A>G (p.Thr117=)
c.-316A>G (n.-316A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.96253922T>GCA427807832TMEM127c.603A>C (p.Thr201=)
c.351A>C (p.Thr117=)
c.-316A>C (n.-316A>C)
 ClinVar dbSNP
2g.96253922T=CA1272522063TMEM127c.603A= (p.Thr201=)
c.351A= (p.Thr117=)
c.-316A= (n.-316A=)
2g.96253923G>ACA347652026TMEM127c.602C>T (p.Thr201Ile)
c.350C>T (p.Thr117Ile)
c.-317C>T (n.-317C>T)
 dbSNP
2g.96253923G>CCA347652030TMEM127c.602C>G (p.Thr201Arg)
c.350C>G (p.Thr117Arg)
c.-317C>G (n.-317C>G)
 dbSNP
2g.96253923G>TCA347652028TMEM127c.602C>A (p.Thr201Lys)
c.350C>A (p.Thr117Lys)
c.-317C>A (n.-317C>A)
2g.96253924T>ACA347652033TMEM127c.601A>T (p.Thr201Ser)
c.349A>T (p.Thr117Ser)
c.-318A>T (n.-318A>T)
 ClinVar dbSNP gnomAD v4
2g.96253924T>CCA347652035TMEM127c.601A>G (p.Thr201Ala)
c.349A>G (p.Thr117Ala)
c.-318A>G (n.-318A>G)
 ClinVar dbSNP
2g.96253924T>GCA347652036TMEM127c.601A>C (p.Thr201Pro)
c.349A>C (p.Thr117Pro)
c.-318A>C (n.-318A>C)
2g.96253924T=CA1272522064TMEM127c.601A= (p.Thr201=)
c.349A= (p.Thr117=)
c.-318A= (n.-318A=)
2g.96253925G>ACA427807836TMEM127c.600C>T (p.Pro200=)
c.348C>T (p.Pro116=)
c.-319C>T (n.-319C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.96253925G>CCA427807837TMEM127c.600C>G (p.Pro200=)
c.348C>G (p.Pro116=)
c.-319C>G (n.-319C>G)
 dbSNP gnomAD v4
2g.96253925G=CA1272522065TMEM127c.600C= (p.Pro200=)
c.348C= (p.Pro116=)
c.-319C= (n.-319C=)
2g.96253925G>TCA16611030TMEM127c.600C>A (p.Pro200=)
c.348C>A (p.Pro116=)
c.-319C>A (n.-319C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.96253926G>ACA347652038TMEM127c.599C>T (p.Pro200Leu)
c.347C>T (p.Pro116Leu)
c.-320C>T (n.-320C>T)
2g.96253926G>CCA347652041TMEM127c.599C>G (p.Pro200Arg)
c.347C>G (p.Pro116Arg)
c.-320C>G (n.-320C>G)
2g.96253926G>TCA347652046TMEM127c.599C>A (p.Pro200His)
c.347C>A (p.Pro116His)
c.-320C>A (n.-320C>A)
2g.96253927G>ACA52411978TMEM127c.598C>T (p.Pro200Ser)
c.346C>T (p.Pro116Ser)
c.-321C>T (n.-321C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96253927G>CCA347652050TMEM127c.598C>G (p.Pro200Ala)
c.346C>G (p.Pro116Ala)
c.-321C>G (n.-321C>G)
 dbSNP
2g.96253927G=CA1272522066TMEM127c.598C= (p.Pro200=)
c.346C= (p.Pro116=)
c.-321C= (n.-321C=)
2g.96253927G>TCA1777273TMEM127c.598C>A (p.Pro200Thr)
c.346C>A (p.Pro116Thr)
c.-321C>A (n.-321C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96253928G>ACA427807839TMEM127c.597C>T (p.Tyr199=)
c.345C>T (p.Tyr115=)
c.-322C>T (n.-322C>T)
 ClinVar dbSNP
2g.96253928G>CCA347652051TMEM127c.597C>G (p.Tyr199Ter)
c.345C>G (p.Tyr115Ter)
c.-322C>G (n.-322C>G)
2g.96253928G=CA1272522067TMEM127c.597C= (p.Tyr199=)
c.345C= (p.Tyr115=)
c.-322C= (n.-322C=)
2g.96253928G>TCA347652052TMEM127c.597C>A (p.Tyr199Ter)
c.345C>A (p.Tyr115Ter)
c.-322C>A (n.-322C>A)
 ClinVar dbSNP
2g.96253929T>ACA347652057TMEM127c.596A>T (p.Tyr199Phe)
c.344A>T (p.Tyr115Phe)
c.-323A>T (n.-323A>T)
 ClinVar dbSNP
2g.96253929T>CCA347652072TMEM127c.596A>G (p.Tyr199Cys)
c.344A>G (p.Tyr115Cys)
c.-323A>G (n.-323A>G)
 dbSNP
2g.96253929T>GCA347652054TMEM127c.596A>C (p.Tyr199Ser)
c.344A>C (p.Tyr115Ser)
c.-323A>C (n.-323A>C)
 dbSNP
2g.96253929T=CA1272522068TMEM127c.596A= (p.Tyr199=)
c.344A= (p.Tyr115=)
c.-323A= (n.-323A=)
2g.96253930A>CCA347652083TMEM127c.595T>G (p.Tyr199Asp)
c.343T>G (p.Tyr115Asp)
c.-324T>G (n.-324T>G)
2g.96253930A>GCA347652086TMEM127c.595T>C (p.Tyr199His)
c.343T>C (p.Tyr115His)
c.-324T>C (n.-324T>C)
 dbSNP
2g.96253930A>TCA347652085TMEM127c.595T>A (p.Tyr199Asn)
c.343T>A (p.Tyr115Asn)
c.-324T>A (n.-324T>A)
 dbSNP
2g.96253931G>ACA427807841TMEM127c.594C>T (p.His198=)
c.342C>T (p.His114=)
c.-325C>T (n.-325C>T)
 dbSNP
2g.96253931G>CCA347652088TMEM127c.594C>G (p.His198Gln)
c.342C>G (p.His114Gln)
c.-325C>G (n.-325C>G)
 ClinVar dbSNP
2g.96253931G>TCA347652089TMEM127c.594C>A (p.His198Gln)
c.342C>A (p.His114Gln)
c.-325C>A (n.-325C>A)
2g.96253932T>ACA347652092TMEM127c.593A>T (p.His198Leu)
c.341A>T (p.His114Leu)
c.-326A>T (n.-326A>T)
2g.96253932T>CCA347652095TMEM127c.593A>G (p.His198Arg)
c.341A>G (p.His114Arg)
c.-326A>G (n.-326A>G)
 ClinVar

Number of alleles fetched