Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.96254838_96254854delinsAGGATATGGGCGAAGGCCA1272522481TMEM127c.388_404delinsGCCTTCGCCCATATCCT (p.Ala130=)
c.136_152delinsGCCTTCGCCCATATCCT (p.Ala46=)
c.-531_-515delinsGCCTTCGCCCATATCCT (n.-531_-515delinsGCCTTCGCCCATATCCT)
2g.96254839_96254854delCA1777331TMEM127c.388_403del (p.Ala130Ter)
c.136_151del (p.Ala46Ter)
c.-531_-516del (n.-531_-516del)
 dbSNP ExAC gnomAD v2
2g.96254854C>ACA347653291TMEM127c.388G>T (p.Ala130Ser)
c.136G>T (p.Ala46Ser)
c.-531G>T (n.-531G>T)
2g.96254854C>GCA347653292TMEM127c.388G>C (p.Ala130Pro)
c.136G>C (p.Ala46Pro)
c.-531G>C (n.-531G>C)
 dbSNP gnomAD v3 gnomAD v4
2g.96254854C>TCA347653290TMEM127c.388G>A (p.Ala130Thr)
c.136G>A (p.Ala46Thr)
c.-531G>A (n.-531G>A)
 gnomAD v4
2g.96254855A=CA1272522494TMEM127c.387T= (p.Tyr129=)
c.135T= (p.Tyr45=)
c.-532T= (n.-532T=)
2g.96254855A>CCA347653293TMEM127c.387T>G (p.Tyr129Ter)
c.135T>G (p.Tyr45Ter)
c.-532T>G (n.-532T>G)
2g.96254855A>GCA1777335TMEM127c.387T>C (p.Tyr129=)
c.135T>C (p.Tyr45=)
c.-532T>C (n.-532T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96254855A>TCA347653294TMEM127c.387T>A (p.Tyr129Ter)
c.135T>A (p.Tyr45Ter)
c.-532T>A (n.-532T>A)
2g.96254855dupCA2700003839TMEM127c.387dup (p.Ala130CysfsTer23)
c.135dup (p.Ala46CysfsTer23)
c.-532dup (n.-532dup)
 dbSNP
2g.96254856T>ACA347653295TMEM127c.386A>T (p.Tyr129Phe)
c.134A>T (p.Tyr45Phe)
c.-533A>T (n.-533A>T)
2g.96254856T>CCA1777336TMEM127c.386A>G (p.Tyr129Cys)
c.134A>G (p.Tyr45Cys)
c.-533A>G (n.-533A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96254856T>GCA347653296TMEM127c.386A>C (p.Tyr129Ser)
c.134A>C (p.Tyr45Ser)
c.-533A>C (n.-533A>C)
2g.96254856T=CA1272522495TMEM127c.386A= (p.Tyr129=)
c.134A= (p.Tyr45=)
c.-533A= (n.-533A=)
2g.96254857A=CA1272522496TMEM127c.385T= (p.Tyr129=)
c.133T= (p.Tyr45=)
c.-534T= (n.-534T=)
2g.96254857A>CCA347653297TMEM127c.385T>G (p.Tyr129Asp)
c.133T>G (p.Tyr45Asp)
c.-534T>G (n.-534T>G)
2g.96254857A>GCA347653299TMEM127c.385T>C (p.Tyr129His)
c.133T>C (p.Tyr45His)
c.-534T>C (n.-534T>C)
 ClinVar dbSNP gnomAD v2 COSMIC
2g.96254857A>TCA347653298TMEM127c.385T>A (p.Tyr129Asn)
c.133T>A (p.Tyr45Asn)
c.-534T>A (n.-534T>A)
 gnomAD v4
2g.96254858G>ACA1777337TMEM127c.384C>T (p.Arg128=)
c.132C>T (p.Arg44=)
c.-535C>T (n.-535C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254858G>CCA427495393TMEM127c.384C>G (p.Arg128=)
c.132C>G (p.Arg44=)
c.-535C>G (n.-535C>G)
2g.96254858G=CA1272522497TMEM127c.384C= (p.Arg128=)
c.132C= (p.Arg44=)
c.-535C= (n.-535C=)
2g.96254858G>TCA427495392TMEM127c.384C>A (p.Arg128=)
c.132C>A (p.Arg44=)
c.-535C>A (n.-535C>A)
2g.96254859C>ACA1777338TMEM127c.383G>T (p.Arg128Leu)
c.131G>T (p.Arg44Leu)
c.-536G>T (n.-536G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96254859C=CA1272522498TMEM127c.383G= (p.Arg128=)
c.131G= (p.Arg44=)
c.-536G= (n.-536G=)
2g.96254859C>GCA347653300TMEM127c.383G>C (p.Arg128Pro)
c.131G>C (p.Arg44Pro)
c.-536G>C (n.-536G>C)
2g.96254859C>TCA1777339TMEM127c.383G>A (p.Arg128His)
c.131G>A (p.Arg44His)
c.-536G>A (n.-536G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254859dupCA916081311TMEM127c.383dup (p.Tyr129LeufsTer24)
c.131dup (p.Tyr45LeufsTer24)
c.-536dup (n.-536dup)
 ClinVar dbSNP
2g.96254862_96254864delCA2739271173TMEM127c.381_383del (p.Arg128del)
c.129_131del (p.Arg44del)
c.-538_-536del (n.-538_-536del)
 ClinVar
2g.96254860G>ACA1777340TMEM127c.382C>T (p.Arg128Cys)
c.130C>T (p.Arg44Cys)
c.-537C>T (n.-537C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96254860G>CCA347653301TMEM127c.382C>G (p.Arg128Gly)
c.130C>G (p.Arg44Gly)
c.-537C>G (n.-537C>G)
2g.96254860G=CA1272522499TMEM127c.382C= (p.Arg128=)
c.130C= (p.Arg44=)
c.-537C= (n.-537C=)
2g.96254860G>TCA347653302TMEM127c.382C>A (p.Arg128Ser)
c.130C>A (p.Arg44Ser)
c.-537C>A (n.-537C>A)
2g.96254861A>CCA427495395TMEM127c.381T>G (p.Arg127=)
c.129T>G (p.Arg43=)
c.-538T>G (n.-538T>G)
 dbSNP
2g.96254861A>GCA427495396TMEM127c.381T>C (p.Arg127=)
c.129T>C (p.Arg43=)
c.-538T>C (n.-538T>C)
2g.96254861A>TCA427495397TMEM127c.381T>A (p.Arg127=)
c.129T>A (p.Arg43=)
c.-538T>A (n.-538T>A)
2g.96254862C>ACA347653303TMEM127c.380G>T (p.Arg127Leu)
c.128G>T (p.Arg43Leu)
c.-539G>T (n.-539G>T)
2g.96254862C=CA1272522500TMEM127c.380G= (p.Arg127=)
c.128G= (p.Arg43=)
c.-539G= (n.-539G=)
2g.96254862C>GCA347653304TMEM127c.380G>C (p.Arg127Pro)
c.128G>C (p.Arg43Pro)
c.-539G>C (n.-539G>C)
 ClinVar
2g.96254862C>TCA1777341TMEM127c.380G>A (p.Arg127His)
c.128G>A (p.Arg43His)
c.-539G>A (n.-539G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96254863delCA2580068329TMEM127c.379del (p.Arg127ValfsTer9)
c.127del (p.Arg43ValfsTer9)
c.-540del (n.-540del)
 ClinVar
2g.96254863G>ACA1777342TMEM127c.379C>T (p.Arg127Cys)
c.127C>T (p.Arg43Cys)
c.-540C>T (n.-540C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254863G>CCA347653306TMEM127c.379C>G (p.Arg127Gly)
c.127C>G (p.Arg43Gly)
c.-540C>G (n.-540C>G)
 ClinVar gnomAD v4
2g.96254863G=CA1272522501TMEM127c.379C= (p.Arg127=)
c.127C= (p.Arg43=)
c.-540C= (n.-540C=)
2g.96254863G>TCA347653305TMEM127c.379C>A (p.Arg127Ser)
c.127C>A (p.Arg43Ser)
c.-540C>A (n.-540C>A)
2g.96254864A=CA1272522502TMEM127c.378T= (p.Thr126=)
c.126T= (p.Thr42=)
c.-541T= (n.-541T=)
2g.96254864A>CCA427495398TMEM127c.378T>G (p.Thr126=)
c.126T>G (p.Thr42=)
c.-541T>G (n.-541T>G)
2g.96254864A>GCA1777343TMEM127c.378T>C (p.Thr126=)
c.126T>C (p.Thr42=)
c.-541T>C (n.-541T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96254864A>TCA427495400TMEM127c.378T>A (p.Thr126=)
c.126T>A (p.Thr42=)
c.-541T>A (n.-541T>A)
 ClinVar
2g.96254865G>ACA1777344TMEM127c.377C>T (p.Thr126Ile)
c.125C>T (p.Thr42Ile)
c.-542C>T (n.-542C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254865G>CCA347653307TMEM127c.377C>G (p.Thr126Ser)
c.125C>G (p.Thr42Ser)
c.-542C>G (n.-542C>G)
 gnomAD v4

Number of alleles fetched