Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.96253903_96254383delCA2573135942TMEM127c.410-265_625del
c.158-265_373del
c.-509-265_-294del
 ClinVar dbSNP
2g.96253970_96253982dupCA2586964986TMEM127c.543_555dup (p.Ala186ArgfsTer?)
c.291_303dup (p.Ala102ArgfsTer?)
c.-376_-364dup (n.-376_-364dup)
2g.96253970_96253983delinsTCCACCAGCTCCTGCA1272522090TMEM127c.542_555delinsCAGGAGCTGGTGGA (p.Ala181=)
c.290_303delinsCAGGAGCTGGTGGA (p.Ala97=)
c.-377_-364delinsCAGGAGCTGGTGGA (n.-377_-364delinsCAGGAGCTGGTGGA)
2g.96253972_96253985delCA2586964987TMEM127c.541_554del (p.Ala181SerfsTer?)
c.289_302del (p.Ala97SerfsTer?)
c.-378_-365del (n.-378_-365del)
2g.96253978_96253990delCA1139655615TMEM127c.542_554del (p.Ala181GlufsTer?)
c.290_302del (p.Ala97GlufsTer?)
c.-377_-365del (n.-377_-365del)
 ClinVar dbSNP
2g.96253978C>ACA347652397TMEM127c.547G>T (p.Ala183Ser)
c.295G>T (p.Ala99Ser)
c.-372G>T (n.-372G>T)
 dbSNP
2g.96253978C>GCA347652399TMEM127c.547G>C (p.Ala183Pro)
c.295G>C (p.Ala99Pro)
c.-372G>C (n.-372G>C)
 dbSNP
2g.96253978C>TCA347652401TMEM127c.547G>A (p.Ala183Thr)
c.295G>A (p.Ala99Thr)
c.-372G>A (n.-372G>A)
 gnomAD v4
2g.96253979T>ACA427808009TMEM127c.546A>T (p.Gly182=)
c.294A>T (p.Gly98=)
c.-373A>T (n.-373A>T)
 dbSNP
2g.96253979T>CCA427808011TMEM127c.546A>G (p.Gly182=)
c.294A>G (p.Gly98=)
c.-373A>G (n.-373A>G)
 dbSNP
2g.96253979T>GCA427808012TMEM127c.546A>C (p.Gly182=)
c.294A>C (p.Gly98=)
c.-373A>C (n.-373A>C)
2g.96253979T=CA1272522095TMEM127c.546A= (p.Gly182=)
c.294A= (p.Gly98=)
c.-373A= (n.-373A=)
2g.96253980C>ACA347652404TMEM127c.545G>T (p.Gly182Val)
c.293G>T (p.Gly98Val)
c.-374G>T (n.-374G>T)
 dbSNP
2g.96253980C=CA1272522096TMEM127c.545G= (p.Gly182=)
c.293G= (p.Gly98=)
c.-374G= (n.-374G=)
2g.96253980C>GCA347652406TMEM127c.545G>C (p.Gly182Ala)
c.293G>C (p.Gly98Ala)
c.-374G>C (n.-374G>C)
 ClinVar dbSNP gnomAD v4
2g.96253980C>TCA1777285TMEM127c.545G>A (p.Gly182Glu)
c.293G>A (p.Gly98Glu)
c.-374G>A (n.-374G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96253981C>ACA347652412TMEM127c.544G>T (p.Gly182Ter)
c.292G>T (p.Gly98Ter)
c.-375G>T (n.-375G>T)
 dbSNP
2g.96253981C>GCA347652417TMEM127c.544G>C (p.Gly182Arg)
c.292G>C (p.Gly98Arg)
c.-375G>C (n.-375G>C)
2g.96253981C>TCA347652415TMEM127c.544G>A (p.Gly182Arg)
c.292G>A (p.Gly98Arg)
c.-375G>A (n.-375G>A)
 dbSNP COSMIC
2g.96253982T>ACA427808016TMEM127c.543A>T (p.Ala181=)
c.291A>T (p.Ala97=)
c.-376A>T (n.-376A>T)
 dbSNP
2g.96253982T>CCA427808017TMEM127c.543A>G (p.Ala181=)
c.291A>G (p.Ala97=)
c.-376A>G (n.-376A>G)
 ClinVar dbSNP
2g.96253982T>GCA427808018TMEM127c.543A>C (p.Ala181=)
c.291A>C (p.Ala97=)
c.-376A>C (n.-376A>C)
2g.96253983G>ACA347652418TMEM127c.542C>T (p.Ala181Val)
c.290C>T (p.Ala97Val)
c.-377C>T (n.-377C>T)
2g.96253983G>CCA347652421TMEM127c.542C>G (p.Ala181Gly)
c.290C>G (p.Ala97Gly)
c.-377C>G (n.-377C>G)
2g.96253983G>TCA347652422TMEM127c.542C>A (p.Ala181Glu)
c.290C>A (p.Ala97Glu)
c.-377C>A (n.-377C>A)
2g.96253984C>ACA347652424TMEM127c.541G>T (p.Ala181Ser)
c.289G>T (p.Ala97Ser)
c.-378G>T (n.-378G>T)
 dbSNP
2g.96253984C=CA1272522097TMEM127c.541G= (p.Ala181=)
c.289G= (p.Ala97=)
c.-378G= (n.-378G=)
2g.96253984C>GCA347652428TMEM127c.541G>C (p.Ala181Pro)
c.289G>C (p.Ala97Pro)
c.-378G>C (n.-378G>C)
 dbSNP
2g.96253984C>TCA347652430TMEM127c.541G>A (p.Ala181Thr)
c.289G>A (p.Ala97Thr)
c.-378G>A (n.-378G>A)
 dbSNP
2g.96253985dupCA2580611366TMEM127c.541dup (p.Ala181GlyfsTer?)
c.289dup (p.Ala97GlyfsTer?)
c.-378dup (n.-378dup)
 ClinVar
2g.96253985C>ACA427808022TMEM127c.540G>T (p.Val180=)
c.288G>T (p.Val96=)
c.-379G>T (n.-379G>T)
 dbSNP
2g.96253985C=CA1272522098TMEM127c.540G= (p.Val180=)
c.288G= (p.Val96=)
c.-379G= (n.-379G=)
2g.96253985C>GCA427808025TMEM127c.540G>C (p.Val180=)
c.288G>C (p.Val96=)
c.-379G>C (n.-379G>C)
2g.96253985C>TCA427808024TMEM127c.540G>A (p.Val180=)
c.288G>A (p.Val96=)
c.-379G>A (n.-379G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.96253986A>CCA347652451TMEM127c.539T>G (p.Val180Gly)
c.287T>G (p.Val96Gly)
c.-380T>G (n.-380T>G)
2g.96253986A>GCA347652454TMEM127c.539T>C (p.Val180Ala)
c.287T>C (p.Val96Ala)
c.-380T>C (n.-380T>C)
 ClinVar
2g.96253986A>TCA347652457TMEM127c.539T>A (p.Val180Glu)
c.287T>A (p.Val96Glu)
c.-380T>A (n.-380T>A)
 dbSNP
2g.96253986dupCA2580068316TMEM127c.539dup (p.Ala181GlyfsTer?)
c.287dup (p.Ala97GlyfsTer?)
c.-380dup (n.-380dup)
 ClinVar
2g.96253987C>ACA347652461TMEM127c.538G>T (p.Val180Leu)
c.286G>T (p.Val96Leu)
c.-381G>T (n.-381G>T)
 ClinVar dbSNP
2g.96253987C=CA1272522099TMEM127c.538G= (p.Val180=)
c.286G= (p.Val96=)
c.-381G= (n.-381G=)
2g.96253987C>GCA347652462TMEM127c.538G>C (p.Val180Leu)
c.286G>C (p.Val96Leu)
c.-381G>C (n.-381G>C)
 dbSNP
2g.96253987C>TCA1777286TMEM127c.538G>A (p.Val180Met)
c.286G>A (p.Val96Met)
c.-381G>A (n.-381G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96253988C>ACA427808029TMEM127c.537G>T (p.Leu179=)
c.285G>T (p.Leu95=)
c.-382G>T (n.-382G>T)
2g.96253988C=CA1272522100TMEM127c.537G= (p.Leu179=)
c.285G= (p.Leu95=)
c.-382G= (n.-382G=)
2g.96253988C>GCA427808030TMEM127c.537G>C (p.Leu179=)
c.285G>C (p.Leu95=)
c.-382G>C (n.-382G>C)
 dbSNP
2g.96253988C>TCA427808031TMEM127c.537G>A (p.Leu179=)
c.285G>A (p.Leu95=)
c.-382G>A (n.-382G>A)
2g.96253989A=CA1272522101TMEM127c.536T= (p.Leu179=)
c.284T= (p.Leu95=)
c.-383T= (n.-383T=)
2g.96253989A>CCA347652481TMEM127c.536T>G (p.Leu179Arg)
c.284T>G (p.Leu95Arg)
c.-383T>G (n.-383T>G)
2g.96253989A>GCA347652485TMEM127c.536T>C (p.Leu179Pro)
c.284T>C (p.Leu95Pro)
c.-383T>C (n.-383T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.96253989A>TCA347652478TMEM127c.536T>A (p.Leu179Gln)
c.284T>A (p.Leu95Gln)
c.-383T>A (n.-383T>A)

Number of alleles fetched