Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.96254814_96254836delCA2700003535TMEM127c.408_409+21del
c.156_157+21del
c.-511_-510+21del
 dbSNP
2g.96254835_96254836delinsGTCA1272522478TMEM127c.406_407delinsAC (p.Thr136=)
c.154_155delinsAC (p.Thr52=)
c.-513_-512delinsAC (n.-513_-512delinsAC)
2g.96254836T>ACA347653252TMEM127c.406A>T (p.Thr136Ser)
c.154A>T (p.Thr52Ser)
c.-513A>T (n.-513A>T)
2g.96254836T>CCA1777330TMEM127c.406A>G (p.Thr136Ala)
c.154A>G (p.Thr52Ala)
c.-513A>G (n.-513A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254836T>GCA347653255TMEM127c.406A>C (p.Thr136Pro)
c.154A>C (p.Thr52Pro)
c.-513A>C (n.-513A>C)
2g.96254836T=CA1272522480TMEM127c.406A= (p.Thr136=)
c.154A= (p.Thr52=)
c.-513A= (n.-513A=)
2g.96254837delCA1777327TMEM127c.406del (p.Thr136ArgfsTer?)
c.154del (p.Thr52ArgfsTer?)
c.-513del (n.-513del)
 dbSNP ExAC gnomAD v2
2g.96254837T>ACA427495375TMEM127c.405A>T (p.Leu135=)
c.153A>T (p.Leu51=)
c.-514A>T (n.-514A>T)
2g.96254837T>CCA427495374TMEM127c.405A>G (p.Leu135=)
c.153A>G (p.Leu51=)
c.-514A>G (n.-514A>G)
2g.96254837T>GCA427495373TMEM127c.405A>C (p.Leu135=)
c.153A>C (p.Leu51=)
c.-514A>C (n.-514A>C)
 dbSNP
2g.96254838A=CA1272522482TMEM127c.404T= (p.Leu135=)
c.152T= (p.Leu51=)
c.-515T= (n.-515T=)
2g.96254838A>CCA347653256TMEM127c.404T>G (p.Leu135Arg)
c.152T>G (p.Leu51Arg)
c.-515T>G (n.-515T>G)
2g.96254838A>GCA347653258TMEM127c.404T>C (p.Leu135Pro)
c.152T>C (p.Leu51Pro)
c.-515T>C (n.-515T>C)
 ClinVar dbSNP gnomAD v2
2g.96254838A>TCA347653259TMEM127c.404T>A (p.Leu135Gln)
c.152T>A (p.Leu51Gln)
c.-515T>A (n.-515T>A)
2g.96254838_96254854delinsAGGATATGGGCGAAGGCCA1272522481TMEM127c.388_404delinsGCCTTCGCCCATATCCT (p.Ala130=)
c.136_152delinsGCCTTCGCCCATATCCT (p.Ala46=)
c.-531_-515delinsGCCTTCGCCCATATCCT (n.-531_-515delinsGCCTTCGCCCATATCCT)
2g.96254839G>ACA1777332TMEM127c.403C>T (p.Leu135=)
c.151C>T (p.Leu51=)
c.-516C>T (n.-516C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96254839G>CCA347653260TMEM127c.403C>G (p.Leu135Val)
c.151C>G (p.Leu51Val)
c.-516C>G (n.-516C>G)
2g.96254839G=CA1272522483TMEM127c.403C= (p.Leu135=)
c.151C= (p.Leu51=)
c.-516C= (n.-516C=)
2g.96254839G>TCA52412879TMEM127c.403C>A (p.Leu135Ile)
c.151C>A (p.Leu51Ile)
c.-516C>A (n.-516C>A)
 ClinVar dbSNP gnomAD v4
2g.96254839_96254854delCA1777331TMEM127c.388_403del (p.Ala130Ter)
c.136_151del (p.Ala46Ter)
c.-531_-516del (n.-531_-516del)
 dbSNP ExAC gnomAD v2
2g.96254840G>ACA427495376TMEM127c.402C>T (p.Ile134=)
c.150C>T (p.Ile50=)
c.-517C>T (n.-517C>T)
2g.96254840G>CCA347653261TMEM127c.402C>G (p.Ile134Met)
c.150C>G (p.Ile50Met)
c.-517C>G (n.-517C>G)
2g.96254840G=CA1272522484TMEM127c.402C= (p.Ile134=)
c.150C= (p.Ile50=)
c.-517C= (n.-517C=)
2g.96254840G>TCA427495378TMEM127c.402C>A (p.Ile134=)
c.150C>A (p.Ile50=)
c.-517C>A (n.-517C>A)
 ClinVar dbSNP
2g.96254841A=CA1272522485TMEM127c.401T= (p.Ile134=)
c.149T= (p.Ile50=)
c.-518T= (n.-518T=)
2g.96254841A>CCA347653262TMEM127c.401T>G (p.Ile134Ser)
c.149T>G (p.Ile50Ser)
c.-518T>G (n.-518T>G)
2g.96254841A>GCA347653263TMEM127c.401T>C (p.Ile134Thr)
c.149T>C (p.Ile50Thr)
c.-518T>C (n.-518T>C)
 ClinVar gnomAD v4
2g.96254841A>TCA347653264TMEM127c.401T>A (p.Ile134Asn)
c.149T>A (p.Ile50Asn)
c.-518T>A (n.-518T>A)
 ClinVar dbSNP
2g.96254842T>ACA347653266TMEM127c.400A>T (p.Ile134Phe)
c.148A>T (p.Ile50Phe)
c.-519A>T (n.-519A>T)
2g.96254842T>CCA1777333TMEM127c.400A>G (p.Ile134Val)
c.148A>G (p.Ile50Val)
c.-519A>G (n.-519A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96254842T>GCA347653265TMEM127c.400A>C (p.Ile134Leu)
c.148A>C (p.Ile50Leu)
c.-519A>C (n.-519A>C)
2g.96254842T=CA1272522486TMEM127c.400A= (p.Ile134=)
c.148A= (p.Ile50=)
c.-519A= (n.-519A=)
2g.96254843A>CCA347653267TMEM127c.399T>G (p.His133Gln)
c.147T>G (p.His49Gln)
c.-520T>G (n.-520T>G)
2g.96254843A>GCA427495379TMEM127c.399T>C (p.His133=)
c.147T>C (p.His49=)
c.-520T>C (n.-520T>C)
 ClinVar gnomAD v4
2g.96254843A>TCA347653268TMEM127c.399T>A (p.His133Gln)
c.147T>A (p.His49Gln)
c.-520T>A (n.-520T>A)
2g.96254844T>ACA347653269TMEM127c.398A>T (p.His133Leu)
c.146A>T (p.His49Leu)
c.-521A>T (n.-521A>T)
2g.96254844T>CCA167272TMEM127c.398A>G (p.His133Arg)
c.146A>G (p.His49Arg)
c.-521A>G (n.-521A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254844T>GCA347653270TMEM127c.398A>C (p.His133Pro)
c.146A>C (p.His49Pro)
c.-521A>C (n.-521A>C)
2g.96254844T=CA1272522487TMEM127c.398A= (p.His133=)
c.146A= (p.His49=)
c.-521A= (n.-521A=)
2g.96254844_96254845delinsTGCA1272522488TMEM127c.397_398delinsCA (p.His133=)
c.145_146delinsCA (p.His49=)
c.-522_-521delinsCA (n.-522_-521delinsCA)
2g.96254845G>ACA347653271TMEM127c.397C>T (p.His133Tyr)
c.145C>T (p.His49Tyr)
c.-522C>T (n.-522C>T)
 ClinVar gnomAD v4
2g.96254845G>CCA347653272TMEM127c.397C>G (p.His133Asp)
c.145C>G (p.His49Asp)
c.-522C>G (n.-522C>G)
 ClinVar
2g.96254845G>TCA347653273TMEM127c.397C>A (p.His133Asn)
c.145C>A (p.His49Asn)
c.-522C>A (n.-522C>A)
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=)

Number of alleles fetched