Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.96253903_96254383delCA2573135942TMEM127c.410-265_625del
c.158-265_373del
c.-509-265_-294del
 ClinVar dbSNP
2g.96253990_96254064delCA2751311961TMEM127c.462_536del (p.Ile154_Leu179delinsMet)
c.210_284del (p.Ile70_Leu95delinsMet)
c.-457_-383del (n.-457_-383del)
2g.96254027T>ACA427808080TMEM127c.498A>T (p.Gly166=)
c.246A>T (p.Gly82=)
c.-421A>T (n.-421A>T)
2g.96254027T>CCA427808082TMEM127c.498A>G (p.Gly166=)
c.246A>G (p.Gly82=)
c.-421A>G (n.-421A>G)
2g.96254027T>GCA427808081TMEM127c.498A>C (p.Gly166=)
c.246A>C (p.Gly82=)
c.-421A>C (n.-421A>C)
2g.96254028C>ACA347652710TMEM127c.497G>T (p.Gly166Val)
c.245G>T (p.Gly82Val)
c.-422G>T (n.-422G>T)
 dbSNP
2g.96254028C>GCA347652714TMEM127c.497G>C (p.Gly166Ala)
c.245G>C (p.Gly82Ala)
c.-422G>C (n.-422G>C)
 dbSNP COSMIC
2g.96254028C>TCA347652715TMEM127c.497G>A (p.Gly166Glu)
c.245G>A (p.Gly82Glu)
c.-422G>A (n.-422G>A)
 gnomAD v4
2g.96254029delCA1139768282TMEM127c.497del (p.Gly166AspfsTer?)
c.245del (p.Gly82AspfsTer?)
c.-422del (n.-422del)
2g.96254029C>ACA347652718TMEM127c.496G>T (p.Gly166Ter)
c.244G>T (p.Gly82Ter)
c.-423G>T (n.-423G>T)
2g.96254029C=CA1272522123TMEM127c.496G= (p.Gly166=)
c.244G= (p.Gly82=)
c.-423G= (n.-423G=)
2g.96254029C>GCA347652721TMEM127c.496G>C (p.Gly166Arg)
c.244G>C (p.Gly82Arg)
c.-423G>C (n.-423G>C)
2g.96254029C>TCA52412072TMEM127c.496G>A (p.Gly166Arg)
c.244G>A (p.Gly82Arg)
c.-423G>A (n.-423G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.96254030A>CCA347652726TMEM127c.495T>G (p.His165Gln)
c.243T>G (p.His81Gln)
c.-424T>G (n.-424T>G)
2g.96254030A>GCA427808086TMEM127c.495T>C (p.His165=)
c.243T>C (p.His81=)
c.-424T>C (n.-424T>C)
 ClinVar gnomAD v4
2g.96254030A>TCA347652730TMEM127c.495T>A (p.His165Gln)
c.243T>A (p.His81Gln)
c.-424T>A (n.-424T>A)
 dbSNP
2g.96254031T>ACA347652736TMEM127c.494A>T (p.His165Leu)
c.242A>T (p.His81Leu)
c.-425A>T (n.-425A>T)
 dbSNP
2g.96254031T>CCA1777293TMEM127c.494A>G (p.His165Arg)
c.242A>G (p.His81Arg)
c.-425A>G (n.-425A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254031T>GCA347652738TMEM127c.494A>C (p.His165Pro)
c.242A>C (p.His81Pro)
c.-425A>C (n.-425A>C)
2g.96254031T=CA1272522124TMEM127c.494A= (p.His165=)
c.242A= (p.His81=)
c.-425A= (n.-425A=)
2g.96254032G>ACA347652740TMEM127c.493C>T (p.His165Tyr)
c.241C>T (p.His81Tyr)
c.-426C>T (n.-426C>T)
 dbSNP
2g.96254032G>CCA347652741TMEM127c.493C>G (p.His165Asp)
c.241C>G (p.His81Asp)
c.-426C>G (n.-426C>G)
2g.96254032G>TCA347652743TMEM127c.493C>A (p.His165Asn)
c.241C>A (p.His81Asn)
c.-426C>A (n.-426C>A)
2g.96254033G>ACA427808088TMEM127c.492C>T (p.Tyr164=)
c.240C>T (p.Tyr80=)
c.-427C>T (n.-427C>T)
 ClinVar dbSNP gnomAD v4
2g.96254033G>CCA347652745TMEM127c.492C>G (p.Tyr164Ter)
c.240C>G (p.Tyr80Ter)
c.-427C>G (n.-427C>G)
 dbSNP
2g.96254033G>TCA347652747TMEM127c.492C>A (p.Tyr164Ter)
c.240C>A (p.Tyr80Ter)
c.-427C>A (n.-427C>A)
2g.96254034T>ACA347652749TMEM127c.491A>T (p.Tyr164Phe)
c.239A>T (p.Tyr80Phe)
c.-428A>T (n.-428A>T)
 dbSNP
2g.96254034T>CCA347652751TMEM127c.491A>G (p.Tyr164Cys)
c.239A>G (p.Tyr80Cys)
c.-428A>G (n.-428A>G)
 dbSNP
2g.96254034T>GCA347652756TMEM127c.491A>C (p.Tyr164Ser)
c.239A>C (p.Tyr80Ser)
c.-428A>C (n.-428A>C)
2g.96254035A=CA1272522125TMEM127c.490T= (p.Tyr164=)
c.238T= (p.Tyr80=)
c.-429T= (n.-429T=)
2g.96254035A>CCA347652760TMEM127c.490T>G (p.Tyr164Asp)
c.238T>G (p.Tyr80Asp)
c.-429T>G (n.-429T>G)
 dbSNP
2g.96254035A>GCA347652759TMEM127c.490T>C (p.Tyr164His)
c.238T>C (p.Tyr80His)
c.-429T>C (n.-429T>C)
 ClinVar dbSNP
2g.96254035A>TCA347652758TMEM127c.490T>A (p.Tyr164Asn)
c.238T>A (p.Tyr80Asn)
c.-429T>A (n.-429T>A)
 dbSNP
2g.96254036C>ACA347652761TMEM127c.489G>T (p.Lys163Asn)
c.237G>T (p.Lys79Asn)
c.-430G>T (n.-430G>T)
 dbSNP
2g.96254036C=CA1272522126TMEM127c.489G= (p.Lys163=)
c.237G= (p.Lys79=)
c.-430G= (n.-430G=)
2g.96254036C>GCA347652762TMEM127c.489G>C (p.Lys163Asn)
c.237G>C (p.Lys79Asn)
c.-430G>C (n.-430G>C)
 dbSNP
2g.96254036C>TCA1777294TMEM127c.489G>A (p.Lys163=)
c.237G>A (p.Lys79=)
c.-430G>A (n.-430G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254037T>ACA347652764TMEM127c.488A>T (p.Lys163Met)
c.236A>T (p.Lys79Met)
c.-431A>T (n.-431A>T)
 dbSNP
2g.96254037T>CCA347652765TMEM127c.488A>G (p.Lys163Arg)
c.236A>G (p.Lys79Arg)
c.-431A>G (n.-431A>G)
2g.96254037T>GCA347652767TMEM127c.488A>C (p.Lys163Thr)
c.236A>C (p.Lys79Thr)
c.-431A>C (n.-431A>C)
2g.96254038T>ACA347652771TMEM127c.487A>T (p.Lys163Ter)
c.235A>T (p.Lys79Ter)
c.-432A>T (n.-432A>T)
 dbSNP
2g.96254038T>CCA347652772TMEM127c.487A>G (p.Lys163Glu)
c.235A>G (p.Lys79Glu)
c.-432A>G (n.-432A>G)
2g.96254038T>GCA347652775TMEM127c.487A>C (p.Lys163Gln)
c.235A>C (p.Lys79Gln)
c.-432A>C (n.-432A>C)
2g.96254038T=CA1272522127TMEM127c.487A= (p.Lys163=)
c.235A= (p.Lys79=)
c.-432A= (n.-432A=)
2g.96254038_96254042delinsACTTATGCCA2740095671TMEM127c.483_487delinsGCATAAGT (p.His161GlnfsTer4)
c.231_235delinsGCATAAGT (p.His77GlnfsTer4)
c.-436_-432delinsGCATAAGT (n.-436_-432delinsGCATAAGT)
 ClinVar
2g.96254039C>ACA347652777TMEM127c.486G>T (p.Lys162Asn)
c.234G>T (p.Lys78Asn)
c.-433G>T (n.-433G>T)
2g.96254039C=CA1272522128TMEM127c.486G= (p.Lys162=)
c.234G= (p.Lys78=)
c.-433G= (n.-433G=)
2g.96254039C>GCA347652786TMEM127c.486G>C (p.Lys162Asn)
c.234G>C (p.Lys78Asn)
c.-433G>C (n.-433G>C)
2g.96254039C>TCA1777295TMEM127c.486G>A (p.Lys162=)
c.234G>A (p.Lys78=)
c.-433G>A (n.-433G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254040T>ACA347652794TMEM127c.485A>T (p.Lys162Met)
c.233A>T (p.Lys78Met)
c.-434A>T (n.-434A>T)

Number of alleles fetched