Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.96254898A>CCA347653386TMEM127c.344T>G (p.Val115Gly)
c.92T>G (p.Val31Gly)
c.-575T>G (n.-575T>G)
2g.96254898A>GCA347653389TMEM127c.344T>C (p.Val115Ala)
c.92T>C (p.Val31Ala)
c.-575T>C (n.-575T>C)
2g.96254898A>TCA347653387TMEM127c.344T>A (p.Val115Asp)
c.92T>A (p.Val31Asp)
c.-575T>A (n.-575T>A)
2g.96254899delCA2577034255TMEM127c.343del (p.Val115SerfsTer9)
c.91del (p.Val31SerfsTer9)
c.-576del (n.-576del)
2g.96254899C>ACA347653390TMEM127c.343G>T (p.Val115Phe)
c.91G>T (p.Val31Phe)
c.-576G>T (n.-576G>T)
2g.96254899C=CA1272522516TMEM127c.343G= (p.Val115=)
c.91G= (p.Val31=)
c.-576G= (n.-576G=)
2g.96254899C>GCA347653392TMEM127c.343G>C (p.Val115Leu)
c.91G>C (p.Val31Leu)
c.-576G>C (n.-576G>C)
2g.96254899C>TCA52412966TMEM127c.343G>A (p.Val115Ile)
c.91G>A (p.Val31Ile)
c.-576G>A (n.-576G>A)
 ClinVar dbSNP gnomAD v4
2g.96254899_96254900insTCA2739271174TMEM127c.342_343insA (p.Val115SerfsTer?)
c.90_91insA (p.Val31SerfsTer?)
c.-577_-576insA (n.-577_-576insA)
 ClinVar
2g.96254900A>CCA347653394TMEM127c.342T>G (p.Asp114Glu)
c.90T>G (p.Asp30Glu)
c.-577T>G (n.-577T>G)
2g.96254900A>GCA427495450TMEM127c.342T>C (p.Asp114=)
c.90T>C (p.Asp30=)
c.-577T>C (n.-577T>C)
2g.96254900A>TCA347653395TMEM127c.342T>A (p.Asp114Glu)
c.90T>A (p.Asp30Glu)
c.-577T>A (n.-577T>A)
2g.96254901T>ACA347653397TMEM127c.341A>T (p.Asp114Val)
c.89A>T (p.Asp30Val)
c.-578A>T (n.-578A>T)
 ClinVar dbSNP
2g.96254901T>CCA347653399TMEM127c.341A>G (p.Asp114Gly)
c.89A>G (p.Asp30Gly)
c.-578A>G (n.-578A>G)
 gnomAD v4
2g.96254901T>GCA347653400TMEM127c.341A>C (p.Asp114Ala)
c.89A>C (p.Asp30Ala)
c.-578A>C (n.-578A>C)
2g.96254902C>ACA347653401TMEM127c.340G>T (p.Asp114Tyr)
c.88G>T (p.Asp30Tyr)
c.-579G>T (n.-579G>T)
 dbSNP gnomAD v4
2g.96254902C=CA1272522517TMEM127c.340G= (p.Asp114=)
c.88G= (p.Asp30=)
c.-579G= (n.-579G=)
2g.96254902C>GCA347653403TMEM127c.340G>C (p.Asp114His)
c.88G>C (p.Asp30His)
c.-579G>C (n.-579G>C)
 ClinVar dbSNP
2g.96254902C>TCA347653404TMEM127c.340G>A (p.Asp114Asn)
c.88G>A (p.Asp30Asn)
c.-579G>A (n.-579G>A)
2g.96254903C>ACA427495455TMEM127c.339G>T (p.Leu113=)
c.87G>T (p.Leu29=)
c.-580G>T (n.-580G>T)
2g.96254903C=CA1272522518TMEM127c.339G= (p.Leu113=)
c.87G= (p.Leu29=)
c.-580G= (n.-580G=)
2g.96254903C>GCA427495456TMEM127c.339G>C (p.Leu113=)
c.87G>C (p.Leu29=)
c.-580G>C (n.-580G>C)
2g.96254903C>TCA1777347TMEM127c.339G>A (p.Leu113=)
c.87G>A (p.Leu29=)
c.-580G>A (n.-580G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96254904delCA2660178070TMEM127c.338del (p.Leu113ArgfsTer11)
c.86del (p.Leu29ArgfsTer11)
c.-581del (n.-581del)
 gnomAD v4
2g.96254904A>CCA347653409TMEM127c.338T>G (p.Leu113Arg)
c.86T>G (p.Leu29Arg)
c.-581T>G (n.-581T>G)
 ClinVar
2g.96254904A>GCA347653406TMEM127c.338T>C (p.Leu113Pro)
c.86T>C (p.Leu29Pro)
c.-581T>C (n.-581T>C)
 ClinVar gnomAD v4
2g.96254904A>TCA347653408TMEM127c.338T>A (p.Leu113Gln)
c.86T>A (p.Leu29Gln)
c.-581T>A (n.-581T>A)
 ClinVar
2g.96254904_96254905delinsAGCA1272522519TMEM127c.337_338delinsCT (p.Leu113=)
c.85_86delinsCT (p.Leu29=)
c.-582_-581delinsCT (n.-582_-581delinsCT)
2g.96254905delCA658683087TMEM127c.337del (p.Leu113TrpfsTer11)
c.85del (p.Leu29TrpfsTer11)
c.-582del (n.-582del)
 ClinVar dbSNP
2g.96254905G>ACA427495457TMEM127c.337C>T (p.Leu113=)
c.85C>T (p.Leu29=)
c.-582C>T (n.-582C>T)
2g.96254905G>CCA347653411TMEM127c.337C>G (p.Leu113Val)
c.85C>G (p.Leu29Val)
c.-582C>G (n.-582C>G)
2g.96254905G>TCA347653412TMEM127c.337C>A (p.Leu113Met)
c.85C>A (p.Leu29Met)
c.-582C>A (n.-582C>A)
 ClinVar dbSNP gnomAD v4
2g.96254906A>CCA427495460TMEM127c.336T>G (p.Leu112=)
c.84T>G (p.Leu28=)
c.-583T>G (n.-583T>G)
2g.96254906A>GCA427495458TMEM127c.336T>C (p.Leu112=)
c.84T>C (p.Leu28=)
c.-583T>C (n.-583T>C)
2g.96254906A>TCA427495459TMEM127c.336T>A (p.Leu112=)
c.84T>A (p.Leu28=)
c.-583T>A (n.-583T>A)
2g.96254907A=CA1272522520TMEM127c.335T= (p.Leu112=)
c.83T= (p.Leu28=)
c.-584T= (n.-584T=)
2g.96254907A>CCA347653414TMEM127c.335T>G (p.Leu112Arg)
c.83T>G (p.Leu28Arg)
c.-584T>G (n.-584T>G)
 ClinVar dbSNP
2g.96254907A>GCA347653415TMEM127c.335T>C (p.Leu112Pro)
c.83T>C (p.Leu28Pro)
c.-584T>C (n.-584T>C)
 ClinVar dbSNP
2g.96254907A>TCA347653417TMEM127c.335T>A (p.Leu112His)
c.83T>A (p.Leu28His)
c.-584T>A (n.-584T>A)
2g.96254908G>ACA1777348TMEM127c.334C>T (p.Leu112Phe)
c.82C>T (p.Leu28Phe)
c.-585C>T (n.-585C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96254908G>CCA347653418TMEM127c.334C>G (p.Leu112Val)
c.82C>G (p.Leu28Val)
c.-585C>G (n.-585C>G)
2g.96254908G=CA1272522521TMEM127c.334C= (p.Leu112=)
c.82C= (p.Leu28=)
c.-585C= (n.-585C=)
2g.96254908G>TCA347653420TMEM127c.334C>A (p.Leu112Ile)
c.82C>A (p.Leu28Ile)
c.-585C>A (n.-585C>A)
2g.96254909G>ACA427495464TMEM127c.333C>T (p.Phe111=)
c.81C>T (p.Phe27=)
c.-586C>T (n.-586C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96254909G>CCA347653422TMEM127c.333C>G (p.Phe111Leu)
c.81C>G (p.Phe27Leu)
c.-586C>G (n.-586C>G)
2g.96254909G=CA1272522522TMEM127c.333C= (p.Phe111=)
c.81C= (p.Phe27=)
c.-586C= (n.-586C=)
2g.96254909G>TCA347653423TMEM127c.333C>A (p.Phe111Leu)
c.81C>A (p.Phe27Leu)
c.-586C>A (n.-586C>A)
2g.96254910A>CCA347653428TMEM127c.332T>G (p.Phe111Cys)
c.80T>G (p.Phe27Cys)
c.-587T>G (n.-587T>G)
 ClinVar dbSNP
2g.96254910A>GCA347653427TMEM127c.332T>C (p.Phe111Ser)
c.80T>C (p.Phe27Ser)
c.-587T>C (n.-587T>C)
 ClinVar
2g.96254910A>TCA347653426TMEM127c.332T>A (p.Phe111Tyr)
c.80T>A (p.Phe27Tyr)
c.-587T>A (n.-587T>A)

Number of alleles fetched