Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.96253903_96254383delCA2573135942TMEM127c.410-265_625del
c.158-265_373del
c.-509-265_-294del
 ClinVar dbSNP
2g.96254078C>ACA347653003TMEM127c.447G>T (p.Trp149Cys)
c.195G>T (p.Trp65Cys)
c.-472G>T (n.-472G>T)
2g.96254078C=CA1272522149TMEM127c.447G= (p.Trp149=)
c.195G= (p.Trp65=)
c.-472G= (n.-472G=)
2g.96254078C>GCA347653006TMEM127c.447G>C (p.Trp149Cys)
c.195G>C (p.Trp65Cys)
c.-472G>C (n.-472G>C)
2g.96254078C>TCA269760TMEM127c.447G>A (p.Trp149Ter)
c.195G>A (p.Trp65Ter)
c.-472G>A (n.-472G>A)
 ClinVar dbSNP gnomAD v4
2g.96254079C>ACA347653017TMEM127c.446G>T (p.Trp149Leu)
c.194G>T (p.Trp65Leu)
c.-473G>T (n.-473G>T)
 COSMIC
2g.96254079C>GCA347653021TMEM127c.446G>C (p.Trp149Ser)
c.194G>C (p.Trp65Ser)
c.-473G>C (n.-473G>C)
 ClinVar
2g.96254079C>TCA347653019TMEM127c.446G>A (p.Trp149Ter)
c.194G>A (p.Trp65Ter)
c.-473G>A (n.-473G>A)
2g.96254080A>CCA347653025TMEM127c.445T>G (p.Trp149Gly)
c.193T>G (p.Trp65Gly)
c.-474T>G (n.-474T>G)
2g.96254080A>GCA347653028TMEM127c.445T>C (p.Trp149Arg)
c.193T>C (p.Trp65Arg)
c.-474T>C (n.-474T>C)
 COSMIC
2g.96254080A>TCA347653033TMEM127c.445T>A (p.Trp149Arg)
c.193T>A (p.Trp65Arg)
c.-474T>A (n.-474T>A)
2g.96254081dupCA2602344478TMEM127c.445dup (p.Trp149LeufsTer4)
c.193dup (p.Trp65LeufsTer4)
c.-474dup (n.-474dup)
 gnomAD v3 gnomAD v4
2g.96254082_96254084delCA2586964989TMEM127c.443_445del (p.Tyr148del)
c.191_193del (p.Tyr64del)
c.-476_-474del (n.-476_-474del)
2g.96254081A=CA1272522150TMEM127c.444T= (p.Tyr148=)
c.192T= (p.Tyr64=)
c.-475T= (n.-475T=)
2g.96254081A>CCA347653035TMEM127c.444T>G (p.Tyr148Ter)
c.192T>G (p.Tyr64Ter)
c.-475T>G (n.-475T>G)
2g.96254081A>GCA1777301TMEM127c.444T>C (p.Tyr148=)
c.192T>C (p.Tyr64=)
c.-475T>C (n.-475T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96254081A>TCA347653043TMEM127c.444T>A (p.Tyr148Ter)
c.192T>A (p.Tyr64Ter)
c.-475T>A (n.-475T>A)
 gnomAD v4
2g.96254082T>ACA347653048TMEM127c.443A>T (p.Tyr148Phe)
c.191A>T (p.Tyr64Phe)
c.-476A>T (n.-476A>T)
 ClinVar dbSNP gnomAD v4
2g.96254082T>CCA347653050TMEM127c.443A>G (p.Tyr148Cys)
c.191A>G (p.Tyr64Cys)
c.-476A>G (n.-476A>G)
2g.96254082T>GCA347653051TMEM127c.443A>C (p.Tyr148Ser)
c.191A>C (p.Tyr64Ser)
c.-476A>C (n.-476A>C)
2g.96254082T=CA1272522151TMEM127c.443A= (p.Tyr148=)
c.191A= (p.Tyr64=)
c.-476A= (n.-476A=)
2g.96254083A>CCA347653054TMEM127c.442T>G (p.Tyr148Asp)
c.190T>G (p.Tyr64Asp)
c.-477T>G (n.-477T>G)
2g.96254083A>GCA347653056TMEM127c.442T>C (p.Tyr148His)
c.190T>C (p.Tyr64His)
c.-477T>C (n.-477T>C)
2g.96254083A>TCA347653057TMEM127c.442T>A (p.Tyr148Asn)
c.190T>A (p.Tyr64Asn)
c.-477T>A (n.-477T>A)
2g.96254085_96254087delCA2586964990TMEM127c.440_442del (p.Ser147del)
c.188_190del (p.Ser63del)
c.-479_-477del (n.-479_-477del)
2g.96254086_96254090delCA2697550983TMEM127c.438_442del (p.Phe146LeufsTer5)
c.186_190del (p.Phe62LeufsTer5)
c.-481_-477del (n.-481_-477del)
 ClinVar
2g.96254084A>CCA427807377TMEM127c.441T>G (p.Ser147=)
c.189T>G (p.Ser63=)
c.-478T>G (n.-478T>G)
2g.96254084A>GCA427807376TMEM127c.441T>C (p.Ser147=)
c.189T>C (p.Ser63=)
c.-478T>C (n.-478T>C)
2g.96254084A>TCA427807375TMEM127c.441T>A (p.Ser147=)
c.189T>A (p.Ser63=)
c.-478T>A (n.-478T>A)
2g.96254085G>ACA347653065TMEM127c.440C>T (p.Ser147Phe)
c.188C>T (p.Ser63Phe)
c.-479C>T (n.-479C>T)
2g.96254085G>CCA347653061TMEM127c.440C>G (p.Ser147Cys)
c.188C>G (p.Ser63Cys)
c.-479C>G (n.-479C>G)
2g.96254085G>TCA347653062TMEM127c.440C>A (p.Ser147Tyr)
c.188C>A (p.Ser63Tyr)
c.-479C>A (n.-479C>A)
2g.96254086A>CCA347653068TMEM127c.439T>G (p.Ser147Ala)
c.187T>G (p.Ser63Ala)
c.-480T>G (n.-480T>G)
2g.96254086A>GCA347653070TMEM127c.439T>C (p.Ser147Pro)
c.187T>C (p.Ser63Pro)
c.-480T>C (n.-480T>C)
2g.96254086A>TCA347653073TMEM127c.439T>A (p.Ser147Thr)
c.187T>A (p.Ser63Thr)
c.-480T>A (n.-480T>A)
2g.96254087A=CA1272522152TMEM127c.438T= (p.Phe146=)
c.186T= (p.Phe62=)
c.-481T= (n.-481T=)
2g.96254087A>CCA347653078TMEM127c.438T>G (p.Phe146Leu)
c.186T>G (p.Phe62Leu)
c.-481T>G (n.-481T>G)
2g.96254087A>GCA1777302TMEM127c.438T>C (p.Phe146=)
c.186T>C (p.Phe62=)
c.-481T>C (n.-481T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254087A>TCA347653080TMEM127c.438T>A (p.Phe146Leu)
c.186T>A (p.Phe62Leu)
c.-481T>A (n.-481T>A)
2g.96254088A>CCA347653081TMEM127c.437T>G (p.Phe146Cys)
c.185T>G (p.Phe62Cys)
c.-482T>G (n.-482T>G)
2g.96254088A>GCA347653082TMEM127c.437T>C (p.Phe146Ser)
c.185T>C (p.Phe62Ser)
c.-482T>C (n.-482T>C)
 gnomAD v4
2g.96254088A>TCA347653083TMEM127c.437T>A (p.Phe146Tyr)
c.185T>A (p.Phe62Tyr)
c.-482T>A (n.-482T>A)
2g.96254089A>CCA347653084TMEM127c.436T>G (p.Phe146Val)
c.184T>G (p.Phe62Val)
c.-483T>G (n.-483T>G)
2g.96254089A>GCA347653085TMEM127c.436T>C (p.Phe146Leu)
c.184T>C (p.Phe62Leu)
c.-483T>C (n.-483T>C)
2g.96254089A>TCA347653088TMEM127c.436T>A (p.Phe146Ile)
c.184T>A (p.Phe62Ile)
c.-483T>A (n.-483T>A)
2g.96254090G>ACA427807384TMEM127c.435C>T (p.Gly145=)
c.183C>T (p.Gly61=)
c.-484C>T (n.-484C>T)
2g.96254090G>CCA1777303TMEM127c.435C>G (p.Gly145=)
c.183C>G (p.Gly61=)
c.-484C>G (n.-484C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96254090G=CA1272522153TMEM127c.435C= (p.Gly145=)
c.183C= (p.Gly61=)
c.-484C= (n.-484C=)
2g.96254090G>TCA427807385TMEM127c.435C>A (p.Gly145=)
c.183C>A (p.Gly61=)
c.-484C>A (n.-484C>A)
2g.96254091C>ACA347653095TMEM127c.434G>T (p.Gly145Val)
c.182G>T (p.Gly61Val)
c.-485G>T (n.-485G>T)
 dbSNP

Number of alleles fetched