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.96254847delCA891842993TMEM127c.397del (p.His133IlefsTer3)
c.145del (p.His49IlefsTer3)
c.-522del (n.-522del)
 ClinVar dbSNP gnomAD v4
2g.96254846G>ACA427495381TMEM127c.396C>T (p.Ala132=)
c.144C>T (p.Ala48=)
c.-523C>T (n.-523C>T)
 ClinVar dbSNP
2g.96254846G>CCA427495383TMEM127c.396C>G (p.Ala132=)
c.144C>G (p.Ala48=)
c.-523C>G (n.-523C>G)
2g.96254846G>TCA427495384TMEM127c.396C>A (p.Ala132=)
c.144C>A (p.Ala48=)
c.-523C>A (n.-523C>A)
2g.96254847G>ACA347653274TMEM127c.395C>T (p.Ala132Val)
c.143C>T (p.Ala48Val)
c.-524C>T (n.-524C>T)
 ClinVar dbSNP gnomAD v4
2g.96254847G>CCA347653275TMEM127c.395C>G (p.Ala132Gly)
c.143C>G (p.Ala48Gly)
c.-524C>G (n.-524C>G)
2g.96254847G=CA1272522489TMEM127c.395C= (p.Ala132=)
c.143C= (p.Ala48=)
c.-524C= (n.-524C=)
2g.96254847G>TCA347653276TMEM127c.395C>A (p.Ala132Asp)
c.143C>A (p.Ala48Asp)
c.-524C>A (n.-524C>A)
2g.96254848C>ACA347653278TMEM127c.394G>T (p.Ala132Ser)
c.142G>T (p.Ala48Ser)
c.-525G>T (n.-525G>T)
 ClinVar dbSNP
2g.96254848C=CA1272522490TMEM127c.394G= (p.Ala132=)
c.142G= (p.Ala48=)
c.-525G= (n.-525G=)
2g.96254848C>GCA347653277TMEM127c.394G>C (p.Ala132Pro)
c.142G>C (p.Ala48Pro)
c.-525G>C (n.-525G>C)
2g.96254848C>TCA195674TMEM127c.394G>A (p.Ala132Thr)
c.142G>A (p.Ala48Thr)
c.-525G>A (n.-525G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254849G>ACA1777334TMEM127c.393C>T (p.Phe131=)
c.141C>T (p.Phe47=)
c.-526C>T (n.-526C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.96254849G>CCA347653279TMEM127c.393C>G (p.Phe131Leu)
c.141C>G (p.Phe47Leu)
c.-526C>G (n.-526C>G)
2g.96254849G=CA1272522491TMEM127c.393C= (p.Phe131=)
c.141C= (p.Phe47=)
c.-526C= (n.-526C=)
2g.96254849G>TCA347653280TMEM127c.393C>A (p.Phe131Leu)
c.141C>A (p.Phe47Leu)
c.-526C>A (n.-526C>A)
2g.96254850A>CCA347653281TMEM127c.392T>G (p.Phe131Cys)
c.140T>G (p.Phe47Cys)
c.-527T>G (n.-527T>G)
2g.96254850A>GCA347653282TMEM127c.392T>C (p.Phe131Ser)
c.140T>C (p.Phe47Ser)
c.-527T>C (n.-527T>C)
2g.96254850A>TCA347653283TMEM127c.392T>A (p.Phe131Tyr)
c.140T>A (p.Phe47Tyr)
c.-527T>A (n.-527T>A)
2g.96254851A=CA1272522492TMEM127c.391T= (p.Phe131=)
c.139T= (p.Phe47=)
c.-528T= (n.-528T=)
2g.96254851A>CCA347653284TMEM127c.391T>G (p.Phe131Val)
c.139T>G (p.Phe47Val)
c.-528T>G (n.-528T>G)
2g.96254851A>GCA347653285TMEM127c.391T>C (p.Phe131Leu)
c.139T>C (p.Phe47Leu)
c.-528T>C (n.-528T>C)
2g.96254851A>TCA347653286TMEM127c.391T>A (p.Phe131Ile)
c.139T>A (p.Phe47Ile)
c.-528T>A (n.-528T>A)
 ClinVar dbSNP
2g.96254852G>ACA427495386TMEM127c.390C>T (p.Ala130=)
c.138C>T (p.Ala46=)
c.-529C>T (n.-529C>T)
 ClinVar dbSNP gnomAD v4
2g.96254852G>CCA427495387TMEM127c.390C>G (p.Ala130=)
c.138C>G (p.Ala46=)
c.-529C>G (n.-529C>G)
 gnomAD v4
2g.96254852G=CA1272522493TMEM127c.390C= (p.Ala130=)
c.138C= (p.Ala46=)
c.-529C= (n.-529C=)
2g.96254852G>TCA427495388TMEM127c.390C>A (p.Ala130=)
c.138C>A (p.Ala46=)
c.-529C>A (n.-529C>A)
2g.96254853G>ACA347653287TMEM127c.389C>T (p.Ala130Val)
c.137C>T (p.Ala46Val)
c.-530C>T (n.-530C>T)
 ClinVar dbSNP
2g.96254853G>CCA347653288TMEM127c.389C>G (p.Ala130Gly)
c.137C>G (p.Ala46Gly)
c.-530C>G (n.-530C>G)
2g.96254853G>TCA347653289TMEM127c.389C>A (p.Ala130Asp)
c.137C>A (p.Ala46Asp)
c.-530C>A (n.-530C>A)
 ClinVar
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
2g.96254865G=CA1272522503TMEM127c.377C= (p.Thr126=)
c.125C= (p.Thr42=)
c.-542C= (n.-542C=)
2g.96254865G>TCA347653308TMEM127c.377C>A (p.Thr126Asn)
c.125C>A (p.Thr42Asn)
c.-542C>A (n.-542C>A)
2g.96254866T>ACA347653309TMEM127c.376A>T (p.Thr126Ser)
c.124A>T (p.Thr42Ser)
c.-543A>T (n.-543A>T)
 ClinVar dbSNP gnomAD v4
2g.96254866T>CCA347653310TMEM127c.376A>G (p.Thr126Ala)
c.124A>G (p.Thr42Ala)
c.-543A>G (n.-543A>G)
 ClinVar gnomAD v4
2g.96254866T>GCA347653311TMEM127c.376A>C (p.Thr126Pro)
c.124A>C (p.Thr42Pro)
c.-543A>C (n.-543A>C)
2g.96254866T=CA1272522504TMEM127c.376A= (p.Thr126=)
c.124A= (p.Thr42=)
c.-543A= (n.-543A=)
2g.96254867delCA2660178017TMEM127c.375del (p.Thr126LeufsTer10)
c.123del (p.Thr42LeufsTer10)
c.-544del (n.-544del)
 gnomAD v4
2g.96254867G>ACA427495402TMEM127c.375C>T (p.Ile125=)
c.123C>T (p.Ile41=)
c.-544C>T (n.-544C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.96254867G>CCA347653312TMEM127c.375C>G (p.Ile125Met)
c.123C>G (p.Ile41Met)
c.-544C>G (n.-544C>G)
 ClinVar
2g.96254867G=CA1272522505TMEM127c.375C= (p.Ile125=)
c.123C= (p.Ile41=)
c.-544C= (n.-544C=)
2g.96254867G>TCA427495403TMEM127c.375C>A (p.Ile125=)
c.123C>A (p.Ile41=)
c.-544C>A (n.-544C>A)
2g.96254868A>CCA347653313TMEM127c.374T>G (p.Ile125Ser)
c.122T>G (p.Ile41Ser)
c.-545T>G (n.-545T>G)
2g.96254868A>GCA347653314TMEM127c.374T>C (p.Ile125Thr)
c.122T>C (p.Ile41Thr)
c.-545T>C (n.-545T>C)
2g.96254868A>TCA347653315TMEM127c.374T>A (p.Ile125Asn)
c.122T>A (p.Ile41Asn)
c.-545T>A (n.-545T>A)
2g.96254869T>ACA347653318TMEM127c.373A>T (p.Ile125Phe)
c.121A>T (p.Ile41Phe)
c.-546A>T (n.-546A>T)
2g.96254869T>CCA347653316TMEM127c.373A>G (p.Ile125Val)
c.121A>G (p.Ile41Val)
c.-546A>G (n.-546A>G)
2g.96254869T>GCA347653317TMEM127c.373A>C (p.Ile125Leu)
c.121A>C (p.Ile41Leu)
c.-546A>C (n.-546A>C)
2g.96254870C>ACA347653319TMEM127c.372G>T (p.Lys124Asn)
c.120G>T (p.Lys40Asn)
c.-547G>T (n.-547G>T)
 gnomAD v4
2g.96254870C>GCA347653320TMEM127c.372G>C (p.Lys124Asn)
c.120G>C (p.Lys40Asn)
c.-547G>C (n.-547G>C)
2g.96254870C>TCA427495407TMEM127c.372G>A (p.Lys124=)
c.120G>A (p.Lys40=)
c.-547G>A (n.-547G>A)
2g.96254871T>ACA347653321TMEM127c.371A>T (p.Lys124Met)
c.119A>T (p.Lys40Met)
c.-548A>T (n.-548A>T)
2g.96254871T>CCA52412951TMEM127c.371A>G (p.Lys124Arg)
c.119A>G (p.Lys40Arg)
c.-548A>G (n.-548A>G)
 ClinVar dbSNP
2g.96254871T>GCA347653322TMEM127c.371A>C (p.Lys124Thr)
c.119A>C (p.Lys40Thr)
c.-548A>C (n.-548A>C)
2g.96254871T=CA1272522506TMEM127c.371A= (p.Lys124=)
c.119A= (p.Lys40=)
c.-548A= (n.-548A=)
2g.96254872T>ACA347653323TMEM127c.370A>T (p.Lys124Ter)
c.118A>T (p.Lys40Ter)
c.-549A>T (n.-549A>T)
 ClinVar dbSNP
2g.96254872T>CCA347653324TMEM127c.370A>G (p.Lys124Glu)
c.118A>G (p.Lys40Glu)
c.-549A>G (n.-549A>G)
 gnomAD v4
2g.96254872T>GCA347653325TMEM127c.370A>C (p.Lys124Gln)
c.118A>C (p.Lys40Gln)
c.-549A>C (n.-549A>C)
2g.96254872T=CA1272522507TMEM127c.370A= (p.Lys124=)
c.118A= (p.Lys40=)
c.-549A= (n.-549A=)
2g.96254873C>ACA427495409TMEM127c.369G>T (p.Leu123=)
c.117G>T (p.Leu39=)
c.-550G>T (n.-550G>T)
 dbSNP
2g.96254873C>GCA427495410TMEM127c.369G>C (p.Leu123=)
c.117G>C (p.Leu39=)
c.-550G>C (n.-550G>C)
2g.96254873C>TCA427495411TMEM127c.369G>A (p.Leu123=)
c.117G>A (p.Leu39=)
c.-550G>A (n.-550G>A)
2g.96254874A>CCA347653326TMEM127c.368T>G (p.Leu123Arg)
c.116T>G (p.Leu39Arg)
c.-551T>G (n.-551T>G)
2g.96254874A>GCA347653327TMEM127c.368T>C (p.Leu123Pro)
c.116T>C (p.Leu39Pro)
c.-551T>C (n.-551T>C)
2g.96254874A>TCA347653328TMEM127c.368T>A (p.Leu123Gln)
c.116T>A (p.Leu39Gln)
c.-551T>A (n.-551T>A)
2g.96254875G>ACA427495414TMEM127c.367C>T (p.Leu123=)
c.115C>T (p.Leu39=)
c.-552C>T (n.-552C>T)
2g.96254875G>CCA347653330TMEM127c.367C>G (p.Leu123Val)
c.115C>G (p.Leu39Val)
c.-552C>G (n.-552C>G)
2g.96254875G>TCA347653329TMEM127c.367C>A (p.Leu123Met)
c.115C>A (p.Leu39Met)
c.-552C>A (n.-552C>A)
2g.96254876A>CCA427495416TMEM127c.366T>G (p.Ala122=)
c.114T>G (p.Ala38=)
c.-553T>G (n.-553T>G)
2g.96254876A>GCA427495417TMEM127c.366T>C (p.Ala122=)
c.114T>C (p.Ala38=)
c.-553T>C (n.-553T>C)
2g.96254876A>TCA427495418TMEM127c.366T>A (p.Ala122=)
c.114T>A (p.Ala38=)
c.-553T>A (n.-553T>A)
2g.96254877G>ACA347653331TMEM127c.365C>T (p.Ala122Val)
c.113C>T (p.Ala38Val)
c.-554C>T (n.-554C>T)
 ClinVar gnomAD v4
2g.96254877G>CCA347653332TMEM127c.365C>G (p.Ala122Gly)
c.113C>G (p.Ala38Gly)
c.-554C>G (n.-554C>G)
2g.96254877G>TCA347653333TMEM127c.365C>A (p.Ala122Asp)
c.113C>A (p.Ala38Asp)
c.-554C>A (n.-554C>A)
2g.96254878C>ACA347653334TMEM127c.364G>T (p.Ala122Ser)
c.112G>T (p.Ala38Ser)
c.-555G>T (n.-555G>T)
2g.96254878C=CA1272522508TMEM127c.364G= (p.Ala122=)
c.112G= (p.Ala38=)
c.-555G= (n.-555G=)
2g.96254878C>GCA347653335TMEM127c.364G>C (p.Ala122Pro)
c.112G>C (p.Ala38Pro)
c.-555G>C (n.-555G>C)
2g.96254878C>TCA347653336TMEM127c.364G>A (p.Ala122Thr)
c.112G>A (p.Ala38Thr)
c.-555G>A (n.-555G>A)
 ClinVar dbSNP gnomAD v4
2g.96254879A=CA1272522509TMEM127c.363T= (p.Pro121=)
c.111T= (p.Pro37=)
c.-556T= (n.-556T=)
2g.96254879A>CCA427495421TMEM127c.363T>G (p.Pro121=)
c.111T>G (p.Pro37=)
c.-556T>G (n.-556T>G)
2g.96254879A>GCA427495423TMEM127c.363T>C (p.Pro121=)
c.111T>C (p.Pro37=)
c.-556T>C (n.-556T>C)
 ClinVar dbSNP gnomAD v4
2g.96254879A>TCA427495422TMEM127c.363T>A (p.Pro121=)
c.111T>A (p.Pro37=)
c.-556T>A (n.-556T>A)
2g.96254880G>ACA347653339TMEM127c.362C>T (p.Pro121Leu)
c.110C>T (p.Pro37Leu)
c.-557C>T (n.-557C>T)
2g.96254880G>CCA347653337TMEM127c.362C>G (p.Pro121Arg)
c.110C>G (p.Pro37Arg)
c.-557C>G (n.-557C>G)
2g.96254880G>TCA347653338TMEM127c.362C>A (p.Pro121His)
c.110C>A (p.Pro37His)
c.-557C>A (n.-557C>A)
2g.96254881G>ACA347653340TMEM127c.361C>T (p.Pro121Ser)
c.109C>T (p.Pro37Ser)
c.-558C>T (n.-558C>T)
2g.96254881G>CCA347653341TMEM127c.361C>G (p.Pro121Ala)
c.109C>G (p.Pro37Ala)
c.-558C>G (n.-558C>G)
2g.96254881G>TCA347653342TMEM127c.361C>A (p.Pro121Thr)
c.109C>A (p.Pro37Thr)
c.-558C>A (n.-558C>A)
 gnomAD v4
2g.96254882A=CA1272522510TMEM127c.360T= (p.His120=)
c.108T= (p.His36=)
c.-559T= (n.-559T=)
2g.96254882A>CCA347653343TMEM127c.360T>G (p.His120Gln)
c.108T>G (p.His36Gln)
c.-559T>G (n.-559T>G)
2g.96254882A>GCA427495424TMEM127c.360T>C (p.His120=)
c.108T>C (p.His36=)
c.-559T>C (n.-559T>C)
2g.96254882A>TCA347653344TMEM127c.360T>A (p.His120Gln)
c.108T>A (p.His36Gln)
c.-559T>A (n.-559T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.96254883T>ACA347653345TMEM127c.359A>T (p.His120Leu)
c.107A>T (p.His36Leu)
c.-560A>T (n.-560A>T)
 gnomAD v4
2g.96254883T>CCA1777345TMEM127c.359A>G (p.His120Arg)
c.107A>G (p.His36Arg)
c.-560A>G (n.-560A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96254883T>GCA347653346TMEM127c.359A>C (p.His120Pro)
c.107A>C (p.His36Pro)
c.-560A>C (n.-560A>C)
2g.96254883T=CA1272522511TMEM127c.359A= (p.His120=)
c.107A= (p.His36=)
c.-560A= (n.-560A=)
2g.96254884G>ACA347653347TMEM127c.358C>T (p.His120Tyr)
c.106C>T (p.His36Tyr)
c.-561C>T (n.-561C>T)
2g.96254884G>CCA347653348TMEM127c.358C>G (p.His120Asp)
c.106C>G (p.His36Asp)
c.-561C>G (n.-561C>G)
2g.96254884G>TCA347653349TMEM127c.358C>A (p.His120Asn)
c.106C>A (p.His36Asn)
c.-561C>A (n.-561C>A)
2g.96254885C>ACA347653350TMEM127c.357G>T (p.Lys119Asn)
c.105G>T (p.Lys35Asn)
c.-562G>T (n.-562G>T)
 dbSNP
2g.96254885C>GCA347653351TMEM127c.357G>C (p.Lys119Asn)
c.105G>C (p.Lys35Asn)
c.-562G>C (n.-562G>C)
2g.96254885C>TCA427495428TMEM127c.357G>A (p.Lys119=)
c.105G>A (p.Lys35=)
c.-562G>A (n.-562G>A)
2g.96254886T>ACA347653352TMEM127c.356A>T (p.Lys119Met)
c.104A>T (p.Lys35Met)
c.-563A>T (n.-563A>T)
2g.96254886T>CCA347653353TMEM127c.356A>G (p.Lys119Arg)
c.104A>G (p.Lys35Arg)
c.-563A>G (n.-563A>G)
2g.96254886T>GCA347653354TMEM127c.356A>C (p.Lys119Thr)
c.104A>C (p.Lys35Thr)
c.-563A>C (n.-563A>C)
2g.96254887T>ACA347653355TMEM127c.355A>T (p.Lys119Ter)
c.103A>T (p.Lys35Ter)
c.-564A>T (n.-564A>T)
2g.96254887T>CCA347653356TMEM127c.355A>G (p.Lys119Glu)
c.103A>G (p.Lys35Glu)
c.-564A>G (n.-564A>G)
2g.96254887T>GCA347653357TMEM127c.355A>C (p.Lys119Gln)
c.103A>C (p.Lys35Gln)
c.-564A>C (n.-564A>C)
2g.96254888C>ACA427495431TMEM127c.354G>T (p.Pro118=)
c.102G>T (p.Pro34=)
c.-565G>T (n.-565G>T)
2g.96254888C=CA1272522512TMEM127c.354G= (p.Pro118=)
c.102G= (p.Pro34=)
c.-565G= (n.-565G=)
2g.96254888C>GCA427495433TMEM127c.354G>C (p.Pro118=)
c.102G>C (p.Pro34=)
c.-565G>C (n.-565G>C)
 gnomAD v4
2g.96254888C>TCA427495434TMEM127c.354G>A (p.Pro118=)
c.102G>A (p.Pro34=)
c.-565G>A (n.-565G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96254889G>ACA1777346TMEM127c.353C>T (p.Pro118Leu)
c.101C>T (p.Pro34Leu)
c.-566C>T (n.-566C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254889G>CCA347653359TMEM127c.353C>G (p.Pro118Arg)
c.101C>G (p.Pro34Arg)
c.-566C>G (n.-566C>G)
 gnomAD v4
2g.96254889G=CA1272522513TMEM127c.353C= (p.Pro118=)
c.101C= (p.Pro34=)
c.-566C= (n.-566C=)
2g.96254889G>TCA347653358TMEM127c.353C>A (p.Pro118Gln)
c.101C>A (p.Pro34Gln)
c.-566C>A (n.-566C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.96254890G>ACA347653362TMEM127c.352C>T (p.Pro118Ser)
c.100C>T (p.Pro34Ser)
c.-567C>T (n.-567C>T)
 ClinVar
2g.96254890G>CCA347653360TMEM127c.352C>G (p.Pro118Ala)
c.100C>G (p.Pro34Ala)
c.-567C>G (n.-567C>G)
2g.96254890G>TCA347653363TMEM127c.352C>A (p.Pro118Thr)
c.100C>A (p.Pro34Thr)
c.-567C>A (n.-567C>A)
2g.96254891C>ACA427495435TMEM127c.351G>T (p.Gly117=)
c.99G>T (p.Gly33=)
c.-568G>T (n.-568G>T)
2g.96254891C>GCA427495437TMEM127c.351G>C (p.Gly117=)
c.99G>C (p.Gly33=)
c.-568G>C (n.-568G>C)
2g.96254891C>TCA427495436TMEM127c.351G>A (p.Gly117=)
c.99G>A (p.Gly33=)
c.-568G>A (n.-568G>A)
2g.96254892C>ACA347653365TMEM127c.350G>T (p.Gly117Val)
c.98G>T (p.Gly33Val)
c.-569G>T (n.-569G>T)
2g.96254892C>GCA347653367TMEM127c.350G>C (p.Gly117Ala)
c.98G>C (p.Gly33Ala)
c.-569G>C (n.-569G>C)
2g.96254892C>TCA347653368TMEM127c.350G>A (p.Gly117Glu)
c.98G>A (p.Gly33Glu)
c.-569G>A (n.-569G>A)
2g.96254893C>ACA347653369TMEM127c.349G>T (p.Gly117Trp)
c.97G>T (p.Gly33Trp)
c.-570G>T (n.-570G>T)
2g.96254893C>GCA347653370TMEM127c.349G>C (p.Gly117Arg)
c.97G>C (p.Gly33Arg)
c.-570G>C (n.-570G>C)
2g.96254893C>TCA347653372TMEM127c.349G>A (p.Gly117Arg)
c.97G>A (p.Gly33Arg)
c.-570G>A (n.-570G>A)
2g.96254894A=CA1272522514TMEM127c.348T= (p.Phe116=)
c.96T= (p.Phe32=)
c.-571T= (n.-571T=)
2g.96254894A>CCA347653375TMEM127c.348T>G (p.Phe116Leu)
c.96T>G (p.Phe32Leu)
c.-571T>G (n.-571T>G)
2g.96254894A>GCA52412965TMEM127c.348T>C (p.Phe116=)
c.96T>C (p.Phe32=)
c.-571T>C (n.-571T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.96254894A>TCA347653373TMEM127c.348T>A (p.Phe116Leu)
c.96T>A (p.Phe32Leu)
c.-571T>A (n.-571T>A)
 ClinVar gnomAD v4
2g.96254895_96254896delCA2580068330TMEM127c.347_348del (p.Phe116TrpfsTer?)
c.95_96del (p.Phe32TrpfsTer?)
c.-572_-571del (n.-572_-571del)
 ClinVar
2g.96254894_96254895insGCA2577034254TMEM127c.347_348insC (p.Gly117TrpfsTer?)
c.95_96insC (p.Gly33TrpfsTer?)
c.-572_-571insC (n.-572_-571insC)
2g.96254895A>CCA347653377TMEM127c.347T>G (p.Phe116Cys)
c.95T>G (p.Phe32Cys)
c.-572T>G (n.-572T>G)
2g.96254895A>GCA347653378TMEM127c.347T>C (p.Phe116Ser)
c.95T>C (p.Phe32Ser)
c.-572T>C (n.-572T>C)
2g.96254895A>TCA347653379TMEM127c.347T>A (p.Phe116Tyr)
c.95T>A (p.Phe32Tyr)
c.-572T>A (n.-572T>A)
2g.96254896A>CCA347653380TMEM127c.346T>G (p.Phe116Val)
c.94T>G (p.Phe32Val)
c.-573T>G (n.-573T>G)
 COSMIC
2g.96254896A>GCA347653382TMEM127c.346T>C (p.Phe116Leu)
c.94T>C (p.Phe32Leu)
c.-573T>C (n.-573T>C)
2g.96254896A>TCA347653384TMEM127c.346T>A (p.Phe116Ile)
c.94T>A (p.Phe32Ile)
c.-573T>A (n.-573T>A)
2g.96254897G>ACA427495443TMEM127c.345C>T (p.Val115=)
c.93C>T (p.Val31=)
c.-574C>T (n.-574C>T)
 ClinVar dbSNP
2g.96254897G>CCA427495446TMEM127c.345C>G (p.Val115=)
c.93C>G (p.Val31=)
c.-574C>G (n.-574C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.96254897G=CA1272522515TMEM127c.345C= (p.Val115=)
c.93C= (p.Val31=)
c.-574C= (n.-574C=)
2g.96254897G>TCA427495445TMEM127c.345C>A (p.Val115=)
c.93C>A (p.Val31=)
c.-574C>A (n.-574C>A)
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)
2g.96254912delCA2739271175TMEM127c.332del (p.Phe111SerfsTer13)
c.80del (p.Phe27SerfsTer13)
c.-587del (n.-587del)
 ClinVar
2g.96254911A=CA1272522523TMEM127c.331T= (p.Phe111=)
c.79T= (p.Phe27=)
c.-588T= (n.-588T=)
2g.96254911A>CCA347653429TMEM127c.331T>G (p.Phe111Val)
c.79T>G (p.Phe27Val)
c.-588T>G (n.-588T>G)
 gnomAD v4
2g.96254911A>GCA347653431TMEM127c.331T>C (p.Phe111Leu)
c.79T>C (p.Phe27Leu)
c.-588T>C (n.-588T>C)
 ClinVar dbSNP gnomAD v4
2g.96254911A>TCA347653433TMEM127c.331T>A (p.Phe111Ile)
c.79T>A (p.Phe27Ile)
c.-588T>A (n.-588T>A)
2g.96254912A=CA1272522524TMEM127c.330T= (p.Ala110=)
c.78T= (p.Ala26=)
c.-589T= (n.-589T=)
2g.96254912A>CCA427495468TMEM127c.330T>G (p.Ala110=)
c.78T>G (p.Ala26=)
c.-589T>G (n.-589T>G)
2g.96254912A>GCA427495469TMEM127c.330T>C (p.Ala110=)
c.78T>C (p.Ala26=)
c.-589T>C (n.-589T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96254912A>TCA427495471TMEM127c.330T>A (p.Ala110=)
c.78T>A (p.Ala26=)
c.-589T>A (n.-589T>A)
 ClinVar
2g.96254913G>ACA347653434TMEM127c.329C>T (p.Ala110Val)
c.77C>T (p.Ala26Val)
c.-590C>T (n.-590C>T)
2g.96254913G>CCA347653436TMEM127c.329C>G (p.Ala110Gly)
c.77C>G (p.Ala26Gly)
c.-590C>G (n.-590C>G)
2g.96254913G>TCA347653437TMEM127c.329C>A (p.Ala110Asp)
c.77C>A (p.Ala26Asp)
c.-590C>A (n.-590C>A)
2g.96254914C>ACA347653438TMEM127c.328G>T (p.Ala110Ser)
c.76G>T (p.Ala26Ser)
c.-591G>T (n.-591G>T)
 ClinVar dbSNP
2g.96254914C=CA1272522525TMEM127c.328G= (p.Ala110=)
c.76G= (p.Ala26=)
c.-591G= (n.-591G=)
2g.96254914C>GCA347653439TMEM127c.328G>C (p.Ala110Pro)
c.76G>C (p.Ala26Pro)
c.-591G>C (n.-591G>C)
 ClinVar dbSNP
2g.96254914C>TCA1777349TMEM127c.328G>A (p.Ala110Thr)
c.76G>A (p.Ala26Thr)
c.-591G>A (n.-591G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254914dupCA2580068332TMEM127c.328dup (p.Ala110GlyfsTer?)
c.76dup (p.Ala26GlyfsTer?)
c.-591dup (n.-591dup)
 ClinVar
2g.96254915G>ACA1777350TMEM127c.327C>T (p.Ser109=)
c.75C>T (p.Ser25=)
c.-592C>T (n.-592C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254915G>CCA427495475TMEM127c.327C>G (p.Ser109=)
c.75C>G (p.Ser25=)
c.-592C>G (n.-592C>G)
 ClinVar dbSNP
2g.96254915G=CA1272522527TMEM127c.327C= (p.Ser109=)
c.75C= (p.Ser25=)
c.-592C= (n.-592C=)
2g.96254915G>TCA427495477TMEM127c.327C>A (p.Ser109=)
c.75C>A (p.Ser25=)
c.-592C>A (n.-592C>A)
2g.96254916delCA2697550986TMEM127c.327del (p.Ala110LeufsTer14)
c.75del (p.Ala26LeufsTer14)
c.-592del (n.-592del)
 ClinVar
2g.96254915_96254919delinsGGAGACA1272522526TMEM127c.323_327delinsTCTCC (p.Leu108=)
c.71_75delinsTCTCC (p.Leu24=)
c.-596_-592delinsTCTCC (n.-596_-592delinsTCTCC)
2g.96254916G>ACA347653441TMEM127c.326C>T (p.Ser109Phe)
c.74C>T (p.Ser25Phe)
c.-593C>T (n.-593C>T)
 ClinVar dbSNP
2g.96254916G>CCA347653442TMEM127c.326C>G (p.Ser109Cys)
c.74C>G (p.Ser25Cys)
c.-593C>G (n.-593C>G)
2g.96254916G=CA1272522528TMEM127c.326C= (p.Ser109=)
c.74C= (p.Ser25=)
c.-593C= (n.-593C=)
2g.96254916G>TCA347653443TMEM127c.326C>A (p.Ser109Tyr)
c.74C>A (p.Ser25Tyr)
c.-593C>A (n.-593C>A)
2g.96254920_96254921delCA2739271176TMEM127c.325_326del (p.Ser109ArgfsTer?)
c.73_74del (p.Ser25ArgfsTer?)
c.-594_-593del (n.-594_-593del)
 ClinVar
2g.96254918_96254921delCA52412991TMEM127c.323_326del (p.Leu108ProfsTer15)
c.71_74del (p.Leu24ProfsTer15)
c.-596_-593del (n.-596_-593del)
 dbSNP gnomAD v3 gnomAD v4
2g.96254917A=CA1272522529TMEM127c.325T= (p.Ser109=)
c.73T= (p.Ser25=)
c.-594T= (n.-594T=)
2g.96254917A>CCA347653445TMEM127c.325T>G (p.Ser109Ala)
c.73T>G (p.Ser25Ala)
c.-594T>G (n.-594T>G)
2g.96254917A>GCA1777351TMEM127c.325T>C (p.Ser109Pro)
c.73T>C (p.Ser25Pro)
c.-594T>C (n.-594T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96254917A>TCA347653444TMEM127c.325T>A (p.Ser109Thr)
c.73T>A (p.Ser25Thr)
c.-594T>A (n.-594T>A)
2g.96254918G>ACA189320TMEM127c.324C>T (p.Leu108=)
c.72C>T (p.Leu24=)
c.-595C>T (n.-595C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96254918G>CCA427495482TMEM127c.324C>G (p.Leu108=)
c.72C>G (p.Leu24=)
c.-595C>G (n.-595C>G)
2g.96254918G=CA1272522530TMEM127c.324C= (p.Leu108=)
c.72C= (p.Leu24=)
c.-595C= (n.-595C=)
2g.96254918G>TCA427495483TMEM127c.324C>A (p.Leu108=)
c.72C>A (p.Leu24=)
c.-595C>A (n.-595C>A)
 dbSNP
2g.96254919A=CA1272522531TMEM127c.323T= (p.Leu108=)
c.71T= (p.Leu24=)
c.-596T= (n.-596T=)
2g.96254919A>CCA347653447TMEM127c.323T>G (p.Leu108Arg)
c.71T>G (p.Leu24Arg)
c.-596T>G (n.-596T>G)
 ClinVar dbSNP gnomAD v4
2g.96254919A>GCA347653446TMEM127c.323T>C (p.Leu108Pro)
c.71T>C (p.Leu24Pro)
c.-596T>C (n.-596T>C)
 ClinVar dbSNP
2g.96254919A>TCA347653449TMEM127c.323T>A (p.Leu108His)
c.71T>A (p.Leu24His)
c.-596T>A (n.-596T>A)
2g.96254920G>ACA347653450TMEM127c.322C>T (p.Leu108Phe)
c.70C>T (p.Leu24Phe)
c.-597C>T (n.-597C>T)
2g.96254920G>CCA347653453TMEM127c.322C>G (p.Leu108Val)
c.70C>G (p.Leu24Val)
c.-597C>G (n.-597C>G)
 dbSNP
2g.96254920G=CA1272522532TMEM127c.322C= (p.Leu108=)
c.70C= (p.Leu24=)
c.-597C= (n.-597C=)
2g.96254920G>TCA347653452TMEM127c.322C>A (p.Leu108Ile)
c.70C>A (p.Leu24Ile)
c.-597C>A (n.-597C>A)
2g.96254921A=CA1272522533TMEM127c.321T= (p.Ser107=)
c.69T= (p.Ser23=)
c.-598T= (n.-598T=)
2g.96254921A>CCA347653455TMEM127c.321T>G (p.Ser107Arg)
c.69T>G (p.Ser23Arg)
c.-598T>G (n.-598T>G)
 ClinVar dbSNP gnomAD v4
2g.96254921A>GCA427495485TMEM127c.321T>C (p.Ser107=)
c.69T>C (p.Ser23=)
c.-598T>C (n.-598T>C)
 ClinVar dbSNP
2g.96254921A>TCA347653456TMEM127c.321T>A (p.Ser107Arg)
c.69T>A (p.Ser23Arg)
c.-598T>A (n.-598T>A)
2g.96254923_96254925delCA2586964993TMEM127c.319_321del (p.Ser107del)
c.67_69del (p.Ser23del)
c.-600_-598del (n.-600_-598del)
2g.96254922C>ACA347653458TMEM127c.320G>T (p.Ser107Ile)
c.68G>T (p.Ser23Ile)
c.-599G>T (n.-599G>T)
2g.96254922C>GCA347653459TMEM127c.320G>C (p.Ser107Thr)
c.68G>C (p.Ser23Thr)
c.-599G>C (n.-599G>C)
2g.96254922C>TCA347653460TMEM127c.320G>A (p.Ser107Asn)
c.68G>A (p.Ser23Asn)
c.-599G>A (n.-599G>A)
2g.96254923T>ACA347653461TMEM127c.319A>T (p.Ser107Cys)
c.67A>T (p.Ser23Cys)
c.-600A>T (n.-600A>T)
2g.96254923T>CCA347653462TMEM127c.319A>G (p.Ser107Gly)
c.67A>G (p.Ser23Gly)
c.-600A>G (n.-600A>G)
2g.96254923T>GCA347653463TMEM127c.319A>C (p.Ser107Arg)
c.67A>C (p.Ser23Arg)
c.-600A>C (n.-600A>C)
2g.96254924A>CCA347653465TMEM127c.318T>G (p.Cys106Trp)
c.66T>G (p.Cys22Trp)
c.-601T>G (n.-601T>G)
2g.96254924A>GCA427495492TMEM127c.318T>C (p.Cys106=)
c.66T>C (p.Cys22=)
c.-601T>C (n.-601T>C)
2g.96254924A>TCA347653466TMEM127c.318T>A (p.Cys106Ter)
c.66T>A (p.Cys22Ter)
c.-601T>A (n.-601T>A)
2g.96254925C>ACA347653471TMEM127c.317G>T (p.Cys106Phe)
c.65G>T (p.Cys22Phe)
c.-602G>T (n.-602G>T)
 ClinVar
2g.96254925C>GCA347653468TMEM127c.317G>C (p.Cys106Ser)
c.65G>C (p.Cys22Ser)
c.-602G>C (n.-602G>C)
 dbSNP
2g.96254925C>TCA347653470TMEM127c.317G>A (p.Cys106Tyr)
c.65G>A (p.Cys22Tyr)
c.-602G>A (n.-602G>A)
 gnomAD v4
2g.96254926A>CCA347653475TMEM127c.316T>G (p.Cys106Gly)
c.64T>G (p.Cys22Gly)
c.-603T>G (n.-603T>G)
2g.96254926A>GCA347653477TMEM127c.316T>C (p.Cys106Arg)
c.64T>C (p.Cys22Arg)
c.-603T>C (n.-603T>C)
2g.96254926A>TCA347653478TMEM127c.316T>A (p.Cys106Ser)
c.64T>A (p.Cys22Ser)
c.-603T>A (n.-603T>A)
2g.96254927C>ACA427495498TMEM127c.315G>T (p.Leu105=)
c.63G>T (p.Leu21=)
c.-604G>T (n.-604G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.96254927C=CA1272522534TMEM127c.315G= (p.Leu105=)
c.63G= (p.Leu21=)
c.-604G= (n.-604G=)
2g.96254927C>GCA427495497TMEM127c.315G>C (p.Leu105=)
c.63G>C (p.Leu21=)
c.-604G>C (n.-604G>C)
 dbSNP gnomAD v2 gnomAD v4
2g.96254927C>TCA427495496TMEM127c.315G>A (p.Leu105=)
c.63G>A (p.Leu21=)
c.-604G>A (n.-604G>A)
 ClinVar dbSNP
2g.96254928A=CA1272522535TMEM127c.314T= (p.Leu105=)
c.62T= (p.Leu21=)
c.-605T= (n.-605T=)
2g.96254928A>CCA52413027TMEM127c.314T>G (p.Leu105Arg)
c.62T>G (p.Leu21Arg)
c.-605T>G (n.-605T>G)
 ClinVar dbSNP
2g.96254928A>GCA1777352TMEM127c.314T>C (p.Leu105Pro)
c.62T>C (p.Leu21Pro)
c.-605T>C (n.-605T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254928A>TCA347653480TMEM127c.314T>A (p.Leu105Gln)
c.62T>A (p.Leu21Gln)
c.-605T>A (n.-605T>A)
2g.96254929G>ACA1777353TMEM127c.313C>T (p.Leu105=)
c.61C>T (p.Leu21=)
c.-606C>T (n.-606C>T)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
2g.96254929G>CCA347653482TMEM127c.313C>G (p.Leu105Val)
c.61C>G (p.Leu21Val)
c.-606C>G (n.-606C>G)
 ClinVar gnomAD v4
2g.96254929G=CA1272522536TMEM127c.313C= (p.Leu105=)
c.61C= (p.Leu21=)
c.-606C= (n.-606C=)
2g.96254929G>TCA347653483TMEM127c.313C>A (p.Leu105Met)
c.61C>A (p.Leu21Met)
c.-606C>A (n.-606C>A)
2g.96254930dupCA2660178148TMEM127c.313dup (p.Leu105ProfsTer3)
c.61dup (p.Leu21ProfsTer3)
c.-606dup (n.-606dup)
 gnomAD v4
2g.96254930G>ACA427495501TMEM127c.312C>T (p.Ile104=)
c.60C>T (p.Ile20=)
c.-607C>T (n.-607C>T)
 ClinVar dbSNP COSMIC
2g.96254930G>CCA347653485TMEM127c.312C>G (p.Ile104Met)
c.60C>G (p.Ile20Met)
c.-607C>G (n.-607C>G)
 ClinVar dbSNP gnomAD v4
2g.96254930G>TCA427495502TMEM127c.312C>A (p.Ile104=)
c.60C>A (p.Ile20=)
c.-607C>A (n.-607C>A)
2g.96254931A>CCA347653488TMEM127c.311T>G (p.Ile104Ser)
c.59T>G (p.Ile20Ser)
c.-608T>G (n.-608T>G)
2g.96254931A>GCA347653492TMEM127c.311T>C (p.Ile104Thr)
c.59T>C (p.Ile20Thr)
c.-608T>C (n.-608T>C)
2g.96254931A>TCA347653486TMEM127c.311T>A (p.Ile104Asn)
c.59T>A (p.Ile20Asn)
c.-608T>A (n.-608T>A)
2g.96254932T>ACA347653494TMEM127c.310A>T (p.Ile104Phe)
c.58A>T (p.Ile20Phe)
c.-609A>T (n.-609A>T)
2g.96254932T>CCA347653495TMEM127c.310A>G (p.Ile104Val)
c.58A>G (p.Ile20Val)
c.-609A>G (n.-609A>G)
2g.96254932T>GCA347653496TMEM127c.310A>C (p.Ile104Leu)
c.58A>C (p.Ile20Leu)
c.-609A>C (n.-609A>C)
2g.96254933G>ACA427495508TMEM127c.309C>T (p.Gly103=)
c.57C>T (p.Gly19=)
c.-610C>T (n.-610C>T)
 ClinVar
2g.96254933G>CCA427495510TMEM127c.309C>G (p.Gly103=)
c.57C>G (p.Gly19=)
c.-610C>G (n.-610C>G)
2g.96254933G>TCA427495509TMEM127c.309C>A (p.Gly103=)
c.57C>A (p.Gly19=)
c.-610C>A (n.-610C>A)
2g.96254933_96254934delinsGCCA1272522537TMEM127c.308_309delinsGC (p.Gly103=)
c.56_57delinsGC (p.Gly19=)
c.-611_-610delinsGC (n.-611_-610delinsGC)
2g.96254934C>ACA347653497TMEM127c.308G>T (p.Gly103Val)
c.56G>T (p.Gly19Val)
c.-611G>T (n.-611G>T)
2g.96254934C=CA1272522538TMEM127c.308G= (p.Gly103=)
c.56G= (p.Gly19=)
c.-611G= (n.-611G=)
2g.96254934C>GCA347653499TMEM127c.308G>C (p.Gly103Ala)
c.56G>C (p.Gly19Ala)
c.-611G>C (n.-611G>C)
2g.96254934C>TCA347653501TMEM127c.308G>A (p.Gly103Asp)
c.56G>A (p.Gly19Asp)
c.-611G>A (n.-611G>A)
 ClinVar dbSNP gnomAD v2
2g.96254936delCA273242TMEM127c.308del (p.Gly103AlafsTer21)
c.56del (p.Gly19AlafsTer21)
c.-611del (n.-611del)
 ClinVar dbSNP
2g.96254935C>ACA347653503TMEM127c.307G>T (p.Gly103Cys)
c.55G>T (p.Gly19Cys)
c.-612G>T (n.-612G>T)
 gnomAD v4
2g.96254935C>GCA347653505TMEM127c.307G>C (p.Gly103Arg)
c.55G>C (p.Gly19Arg)
c.-612G>C (n.-612G>C)
 dbSNP
2g.96254935C>TCA347653506TMEM127c.307G>A (p.Gly103Ser)
c.55G>A (p.Gly19Ser)
c.-612G>A (n.-612G>A)
 ClinVar dbSNP
2g.96254936C>ACA427495512TMEM127c.306G>T (p.Leu102=)
c.54G>T (p.Leu18=)
c.-613G>T (n.-613G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.96254936C=CA1272522539TMEM127c.306G= (p.Leu102=)
c.54G= (p.Leu18=)
c.-613G= (n.-613G=)
2g.96254936C>GCA427495513TMEM127c.306G>C (p.Leu102=)
c.54G>C (p.Leu18=)
c.-613G>C (n.-613G>C)
2g.96254936C>TCA427495515TMEM127c.306G>A (p.Leu102=)
c.54G>A (p.Leu18=)
c.-613G>A (n.-613G>A)
2g.96254937A>CCA347653508TMEM127c.305T>G (p.Leu102Arg)
c.53T>G (p.Leu18Arg)
c.-614T>G (n.-614T>G)
 ClinVar gnomAD v4
2g.96254937A>GCA347653510TMEM127c.305T>C (p.Leu102Pro)
c.53T>C (p.Leu18Pro)
c.-614T>C (n.-614T>C)
2g.96254937A>TCA347653512TMEM127c.305T>A (p.Leu102Gln)
c.53T>A (p.Leu18Gln)
c.-614T>A (n.-614T>A)
2g.96254938G>ACA427495520TMEM127c.304C>T (p.Leu102=)
c.52C>T (p.Leu18=)
c.-615C>T (n.-615C>T)
 ClinVar
2g.96254938G>CCA347653513TMEM127c.304C>G (p.Leu102Val)
c.52C>G (p.Leu18Val)
c.-615C>G (n.-615C>G)
2g.96254938G>TCA347653514TMEM127c.304C>A (p.Leu102Met)
c.52C>A (p.Leu18Met)
c.-615C>A (n.-615C>A)
2g.96254939G>ACA427495522TMEM127c.303C>T (p.Phe101=)
c.51C>T (p.Phe17=)
c.-616C>T (n.-616C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.96254939G>CCA347653516TMEM127c.303C>G (p.Phe101Leu)
c.51C>G (p.Phe17Leu)
c.-616C>G (n.-616C>G)
 ClinVar
2g.96254939G=CA1272522540TMEM127c.303C= (p.Phe101=)
c.51C= (p.Phe17=)
c.-616C= (n.-616C=)
2g.96254939G>TCA347653517TMEM127c.303C>A (p.Phe101Leu)
c.51C>A (p.Phe17Leu)
c.-616C>A (n.-616C>A)
2g.96254942_96254947dupCA2580068334TMEM127c.298_303dup (p.Phe101_Leu102insCysPhe)
c.46_51dup (p.Phe17_Leu18insCysPhe)
c.-621_-616dup (n.-621_-616dup)
 ClinVar
2g.96254940A>CCA347653519TMEM127c.302T>G (p.Phe101Cys)
c.50T>G (p.Phe17Cys)
c.-617T>G (n.-617T>G)
2g.96254940A>GCA347653521TMEM127c.302T>C (p.Phe101Ser)
c.50T>C (p.Phe17Ser)
c.-617T>C (n.-617T>C)
 ClinVar gnomAD v4
2g.96254940A>TCA347653522TMEM127c.302T>A (p.Phe101Tyr)
c.50T>A (p.Phe17Tyr)
c.-617T>A (n.-617T>A)
2g.96254942delCA2660178170TMEM127c.302del (p.Phe101SerfsTer23)
c.50del (p.Phe17SerfsTer23)
c.-617del (n.-617del)
 gnomAD v4
2g.96254941A>CCA347653523TMEM127c.301T>G (p.Phe101Val)
c.49T>G (p.Phe17Val)
c.-618T>G (n.-618T>G)
2g.96254941A>GCA347653525TMEM127c.301T>C (p.Phe101Leu)
c.49T>C (p.Phe17Leu)
c.-618T>C (n.-618T>C)
2g.96254941A>TCA347653527TMEM127c.301T>A (p.Phe101Ile)
c.49T>A (p.Phe17Ile)
c.-618T>A (n.-618T>A)
2g.96254942A>CCA347653529TMEM127c.300T>G (p.Cys100Trp)
c.48T>G (p.Cys16Trp)
c.-619T>G (n.-619T>G)
2g.96254942A>GCA427495530TMEM127c.300T>C (p.Cys100=)
c.48T>C (p.Cys16=)
c.-619T>C (n.-619T>C)
2g.96254942A>TCA347653530TMEM127c.300T>A (p.Cys100Ter)
c.48T>A (p.Cys16Ter)
c.-619T>A (n.-619T>A)
2g.96254943C>ACA347653532TMEM127c.299G>T (p.Cys100Phe)
c.47G>T (p.Cys16Phe)
c.-620G>T (n.-620G>T)
2g.96254943C=CA1272522541TMEM127c.299G= (p.Cys100=)
c.47G= (p.Cys16=)
c.-620G= (n.-620G=)
2g.96254943C>GCA10616496TMEM127c.299G>C (p.Cys100Ser)
c.47G>C (p.Cys16Ser)
c.-620G>C (n.-620G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96254943C>TCA347653534TMEM127c.299G>A (p.Cys100Tyr)
c.47G>A (p.Cys16Tyr)
c.-620G>A (n.-620G>A)
2g.96254944A=CA1272522542TMEM127c.298T= (p.Cys100=)
c.46T= (p.Cys16=)
c.-621T= (n.-621T=)
2g.96254944A>CCA347653536TMEM127c.298T>G (p.Cys100Gly)
c.46T>G (p.Cys16Gly)
c.-621T>G (n.-621T>G)
2g.96254944A>GCA347653538TMEM127c.298T>C (p.Cys100Arg)
c.46T>C (p.Cys16Arg)
c.-621T>C (n.-621T>C)
 ClinVar dbSNP
2g.96254944A>TCA347653535TMEM127c.298T>A (p.Cys100Ser)
c.46T>A (p.Cys16Ser)
c.-621T>A (n.-621T>A)
 ClinVar dbSNP
2g.96254945G>ACA427495539TMEM127c.297C>T (p.Phe99=)
c.45C>T (p.Phe15=)
c.-622C>T (n.-622C>T)
 gnomAD v4
2g.96254945G>CCA347653540TMEM127c.297C>G (p.Phe99Leu)
c.45C>G (p.Phe15Leu)
c.-622C>G (n.-622C>G)
2g.96254945G>TCA347653541TMEM127c.297C>A (p.Phe99Leu)
c.45C>A (p.Phe15Leu)
c.-622C>A (n.-622C>A)
2g.96254946A>CCA347653543TMEM127c.296T>G (p.Phe99Cys)
c.44T>G (p.Phe15Cys)
c.-623T>G (n.-623T>G)
2g.96254946A>GCA347653544TMEM127c.296T>C (p.Phe99Ser)
c.44T>C (p.Phe15Ser)
c.-623T>C (n.-623T>C)
 dbSNP
2g.96254946A>TCA347653545TMEM127c.296T>A (p.Phe99Tyr)
c.44T>A (p.Phe15Tyr)
c.-623T>A (n.-623T>A)

Number of alleles fetched