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.96254054_96254056dupCA534634932TMEM127c.480_482dup (p.Gln160_His161insGln)
c.228_230dup (p.Gln76_His77insGln)
c.-439_-437dup (n.-439_-437dup)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.96254051_96254056dupCA2660177334TMEM127c.477_482dup (p.Gln160_His161insGlnGln)
c.225_230dup (p.Gln76_His77insGlnGln)
c.-442_-437dup (n.-442_-437dup)
 gnomAD v4
2g.96254054_96254056delCA1777297TMEM127c.480_482del (p.Gln160del)
c.228_230del (p.Gln76del)
c.-439_-437del (n.-439_-437del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.96254051_96254056delCA2699676146TMEM127c.477_482del (p.Gln159_Gln160del)
c.225_230del (p.Gln75_Gln76del)
c.-442_-437del (n.-442_-437del)
 dbSNP
2g.96254050G>ACA113855TMEM127c.475C>T (p.Gln159Ter)
c.223C>T (p.Gln75Ter)
c.-444C>T (n.-444C>T)
 ClinVar dbSNP
2g.96254050G>CCA347652858TMEM127c.475C>G (p.Gln159Glu)
c.223C>G (p.Gln75Glu)
c.-444C>G (n.-444C>G)
2g.96254050G=CA1272522134TMEM127c.475C= (p.Gln159=)
c.223C= (p.Gln75=)
c.-444C= (n.-444C=)
2g.96254050G>TCA347652860TMEM127c.475C>A (p.Gln159Lys)
c.223C>A (p.Gln75Lys)
c.-444C>A (n.-444C>A)
2g.96254051C>ACA347652867TMEM127c.474G>T (p.Gln158His)
c.222G>T (p.Gln74His)
c.-445G>T (n.-445G>T)
2g.96254051C>GCA347652869TMEM127c.474G>C (p.Gln158His)
c.222G>C (p.Gln74His)
c.-445G>C (n.-445G>C)
2g.96254051C>TCA427808102TMEM127c.474G>A (p.Gln158=)
c.222G>A (p.Gln74=)
c.-445G>A (n.-445G>A)
 dbSNP
2g.96254052T>ACA347652871TMEM127c.473A>T (p.Gln158Leu)
c.221A>T (p.Gln74Leu)
c.-446A>T (n.-446A>T)
2g.96254052T>CCA347652875TMEM127c.473A>G (p.Gln158Arg)
c.221A>G (p.Gln74Arg)
c.-446A>G (n.-446A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.96254052T>GCA347652874TMEM127c.473A>C (p.Gln158Pro)
c.221A>C (p.Gln74Pro)
c.-446A>C (n.-446A>C)
2g.96254052T=CA1272522135TMEM127c.473A= (p.Gln158=)
c.221A= (p.Gln74=)
c.-446A= (n.-446A=)
2g.96254053G>ACA1777298TMEM127c.472C>T (p.Gln158Ter)
c.220C>T (p.Gln74Ter)
c.-447C>T (n.-447C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96254053G>CCA10614652TMEM127c.472C>G (p.Gln158Glu)
c.220C>G (p.Gln74Glu)
c.-447C>G (n.-447C>G)
 ClinVar dbSNP
2g.96254053G=CA1272522136TMEM127c.472C= (p.Gln158=)
c.220C= (p.Gln74=)
c.-447C= (n.-447C=)
2g.96254053G>TCA347652882TMEM127c.472C>A (p.Gln158Lys)
c.220C>A (p.Gln74Lys)
c.-447C>A (n.-447C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.96254054C>ACA347652883TMEM127c.471G>T (p.Gln157His)
c.219G>T (p.Gln73His)
c.-448G>T (n.-448G>T)
 ClinVar dbSNP gnomAD v4
2g.96254054C>GCA347652885TMEM127c.471G>C (p.Gln157His)
c.219G>C (p.Gln73His)
c.-448G>C (n.-448G>C)
 dbSNP
2g.96254054C>TCA427808104TMEM127c.471G>A (p.Gln157=)
c.219G>A (p.Gln73=)
c.-448G>A (n.-448G>A)
 dbSNP
2g.96254055delCA2660177356TMEM127c.470del (p.Gln157ArgfsTer?)
c.218del (p.Gln73ArgfsTer?)
c.-449del (n.-449del)
 gnomAD v4
2g.96254055T>ACA347652887TMEM127c.470A>T (p.Gln157Leu)
c.218A>T (p.Gln73Leu)
c.-449A>T (n.-449A>T)
2g.96254055T>CCA347652890TMEM127c.470A>G (p.Gln157Arg)
c.218A>G (p.Gln73Arg)
c.-449A>G (n.-449A>G)
2g.96254055T>GCA347652893TMEM127c.470A>C (p.Gln157Pro)
c.218A>C (p.Gln73Pro)
c.-449A>C (n.-449A>C)
 ClinVar
2g.96254056G>ACA1777299TMEM127c.469C>T (p.Gln157Ter)
c.217C>T (p.Gln73Ter)
c.-450C>T (n.-450C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254056G>CCA347652896TMEM127c.469C>G (p.Gln157Glu)
c.217C>G (p.Gln73Glu)
c.-450C>G (n.-450C>G)
2g.96254056G=CA1272522137TMEM127c.469C= (p.Gln157=)
c.217C= (p.Gln73=)
c.-450C= (n.-450C=)
2g.96254056G>TCA347652899TMEM127c.469C>A (p.Gln157Lys)
c.217C>A (p.Gln73Lys)
c.-450C>A (n.-450C>A)
2g.96254057G>ACA427808111TMEM127c.468C>T (p.Ala156=)
c.216C>T (p.Ala72=)
c.-451C>T (n.-451C>T)
 ClinVar dbSNP
2g.96254057G>CCA427808112TMEM127c.468C>G (p.Ala156=)
c.216C>G (p.Ala72=)
c.-451C>G (n.-451C>G)
2g.96254057G=CA1272522138TMEM127c.468C= (p.Ala156=)
c.216C= (p.Ala72=)
c.-451C= (n.-451C=)
2g.96254057G>TCA1777300TMEM127c.468C>A (p.Ala156=)
c.216C>A (p.Ala72=)
c.-451C>A (n.-451C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96254058G>ACA52412116TMEM127c.467C>T (p.Ala156Val)
c.215C>T (p.Ala72Val)
c.-452C>T (n.-452C>T)
 dbSNP
2g.96254058G>CCA347652904TMEM127c.467C>G (p.Ala156Gly)
c.215C>G (p.Ala72Gly)
c.-452C>G (n.-452C>G)
2g.96254058G=CA1272522139TMEM127c.467C= (p.Ala156=)
c.215C= (p.Ala72=)
c.-452C= (n.-452C=)
2g.96254058G>TCA347652907TMEM127c.467C>A (p.Ala156Asp)
c.215C>A (p.Ala72Asp)
c.-452C>A (n.-452C>A)
2g.96254059C>ACA347652911TMEM127c.466G>T (p.Ala156Ser)
c.214G>T (p.Ala72Ser)
c.-453G>T (n.-453G>T)
 dbSNP
2g.96254059C>GCA347652913TMEM127c.466G>C (p.Ala156Pro)
c.214G>C (p.Ala72Pro)
c.-453G>C (n.-453G>C)
 ClinVar
2g.96254059C>TCA347652914TMEM127c.466G>A (p.Ala156Thr)
c.214G>A (p.Ala72Thr)
c.-453G>A (n.-453G>A)
2g.96254060C>ACA347652916TMEM127c.465G>T (p.Leu155Phe)
c.213G>T (p.Leu71Phe)
c.-454G>T (n.-454G>T)
2g.96254060C>GCA347652919TMEM127c.465G>C (p.Leu155Phe)
c.213G>C (p.Leu71Phe)
c.-454G>C (n.-454G>C)
2g.96254060C>TCA427808116TMEM127c.465G>A (p.Leu155=)
c.213G>A (p.Leu71=)
c.-454G>A (n.-454G>A)
2g.96254061A=CA1272522140TMEM127c.464T= (p.Leu155=)
c.212T= (p.Leu71=)
c.-455T= (n.-455T=)
2g.96254061A>CCA347652922TMEM127c.464T>G (p.Leu155Trp)
c.212T>G (p.Leu71Trp)
c.-455T>G (n.-455T>G)
2g.96254061A>GCA347652923TMEM127c.464T>C (p.Leu155Ser)
c.212T>C (p.Leu71Ser)
c.-455T>C (n.-455T>C)
2g.96254061A>TCA10588348TMEM127c.464T>A (p.Leu155Ter)
c.212T>A (p.Leu71Ter)
c.-455T>A (n.-455T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96254062A>CCA347652925TMEM127c.463T>G (p.Leu155Val)
c.211T>G (p.Leu71Val)
c.-456T>G (n.-456T>G)
 gnomAD v4
2g.96254062A>GCA427808120TMEM127c.463T>C (p.Leu155=)
c.211T>C (p.Leu71=)
c.-456T>C (n.-456T>C)
 ClinVar dbSNP
2g.96254062A>TCA347652926TMEM127c.463T>A (p.Leu155Met)
c.211T>A (p.Leu71Met)
c.-456T>A (n.-456T>A)
2g.96254063G>ACA427808122TMEM127c.462C>T (p.Ile154=)
c.210C>T (p.Ile70=)
c.-457C>T (n.-457C>T)
2g.96254063G>CCA52412122TMEM127c.462C>G (p.Ile154Met)
c.210C>G (p.Ile70Met)
c.-457C>G (n.-457C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.96254063G=CA1272522141TMEM127c.462C= (p.Ile154=)
c.210C= (p.Ile70=)
c.-457C= (n.-457C=)
2g.96254063G>TCA427808121TMEM127c.462C>A (p.Ile154=)
c.210C>A (p.Ile70=)
c.-457C>A (n.-457C>A)
2g.96254064A=CA1272522142TMEM127c.461T= (p.Ile154=)
c.209T= (p.Ile70=)
c.-458T= (n.-458T=)
2g.96254064A>CCA347652931TMEM127c.461T>G (p.Ile154Ser)
c.209T>G (p.Ile70Ser)
c.-458T>G (n.-458T>G)
2g.96254064A>GCA347652929TMEM127c.461T>C (p.Ile154Thr)
c.209T>C (p.Ile70Thr)
c.-458T>C (n.-458T>C)
2g.96254064A>TCA347652927TMEM127c.461T>A (p.Ile154Asn)
c.209T>A (p.Ile70Asn)
c.-458T>A (n.-458T>A)
 dbSNP gnomAD v3 gnomAD v4
2g.96254065T>ACA347652934TMEM127c.460A>T (p.Ile154Phe)
c.208A>T (p.Ile70Phe)
c.-459A>T (n.-459A>T)
 gnomAD v4
2g.96254065T>CCA347652940TMEM127c.460A>G (p.Ile154Val)
c.208A>G (p.Ile70Val)
c.-459A>G (n.-459A>G)
 COSMIC
2g.96254065T>GCA347652937TMEM127c.460A>C (p.Ile154Leu)
c.208A>C (p.Ile70Leu)
c.-459A>C (n.-459A>C)
2g.96254066G>ACA52412132TMEM127c.459C>T (p.Leu153=)
c.207C>T (p.Leu69=)
c.-460C>T (n.-460C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.96254066G>CCA427808132TMEM127c.459C>G (p.Leu153=)
c.207C>G (p.Leu69=)
c.-460C>G (n.-460C>G)
2g.96254066G=CA1272522143TMEM127c.459C= (p.Leu153=)
c.207C= (p.Leu69=)
c.-460C= (n.-460C=)
2g.96254066G>TCA427808133TMEM127c.459C>A (p.Leu153=)
c.207C>A (p.Leu69=)
c.-460C>A (n.-460C>A)
2g.96254067A>CCA347652943TMEM127c.458T>G (p.Leu153Arg)
c.206T>G (p.Leu69Arg)
c.-461T>G (n.-461T>G)
2g.96254067A>GCA347652945TMEM127c.458T>C (p.Leu153Pro)
c.206T>C (p.Leu69Pro)
c.-461T>C (n.-461T>C)
2g.96254067A>TCA347652946TMEM127c.458T>A (p.Leu153His)
c.206T>A (p.Leu69His)
c.-461T>A (n.-461T>A)
2g.96254068G>ACA347652950TMEM127c.457C>T (p.Leu153Phe)
c.205C>T (p.Leu69Phe)
c.-462C>T (n.-462C>T)
2g.96254068G>CCA347652952TMEM127c.457C>G (p.Leu153Val)
c.205C>G (p.Leu69Val)
c.-462C>G (n.-462C>G)
2g.96254068G>TCA347652955TMEM127c.457C>A (p.Leu153Ile)
c.205C>A (p.Leu69Ile)
c.-462C>A (n.-462C>A)
2g.96254069T>ACA347652960TMEM127c.456A>T (p.Glu152Asp)
c.204A>T (p.Glu68Asp)
c.-463A>T (n.-463A>T)
2g.96254069T>CCA427808145TMEM127c.456A>G (p.Glu152=)
c.204A>G (p.Glu68=)
c.-463A>G (n.-463A>G)
 ClinVar dbSNP gnomAD v4
2g.96254069T>GCA347652958TMEM127c.456A>C (p.Glu152Asp)
c.204A>C (p.Glu68Asp)
c.-463A>C (n.-463A>C)
2g.96254069T=CA1272522144TMEM127c.456A= (p.Glu152=)
c.204A= (p.Glu68=)
c.-463A= (n.-463A=)
2g.96254070T>ACA347652963TMEM127c.455A>T (p.Glu152Val)
c.203A>T (p.Glu68Val)
c.-464A>T (n.-464A>T)
2g.96254070T>CCA347652965TMEM127c.455A>G (p.Glu152Gly)
c.203A>G (p.Glu68Gly)
c.-464A>G (n.-464A>G)
2g.96254070T>GCA347652967TMEM127c.455A>C (p.Glu152Ala)
c.203A>C (p.Glu68Ala)
c.-464A>C (n.-464A>C)
2g.96254071C>ACA347652970TMEM127c.454G>T (p.Glu152Ter)
c.202G>T (p.Glu68Ter)
c.-465G>T (n.-465G>T)
2g.96254071C=CA1272522145TMEM127c.454G= (p.Glu152=)
c.202G= (p.Glu68=)
c.-465G= (n.-465G=)
2g.96254071C>GCA347652971TMEM127c.454G>C (p.Glu152Gln)
c.202G>C (p.Glu68Gln)
c.-465G>C (n.-465G>C)
 dbSNP
2g.96254071C>TCA347652974TMEM127c.454G>A (p.Glu152Lys)
c.202G>A (p.Glu68Lys)
c.-465G>A (n.-465G>A)
2g.96254072A>CCA427808153TMEM127c.453T>G (p.Ser151=)
c.201T>G (p.Ser67=)
c.-466T>G (n.-466T>G)
2g.96254072A>GCA427808155TMEM127c.453T>C (p.Ser151=)
c.201T>C (p.Ser67=)
c.-466T>C (n.-466T>C)
 ClinVar
2g.96254072A>TCA427808156TMEM127c.453T>A (p.Ser151=)
c.201T>A (p.Ser67=)
c.-466T>A (n.-466T>A)
2g.96254073G>ACA347652981TMEM127c.452C>T (p.Ser151Phe)
c.200C>T (p.Ser67Phe)
c.-467C>T (n.-467C>T)
 dbSNP gnomAD v4
2g.96254073G>CCA347652976TMEM127c.452C>G (p.Ser151Cys)
c.200C>G (p.Ser67Cys)
c.-467C>G (n.-467C>G)
 dbSNP gnomAD v4 COSMIC
2g.96254073G=CA1272522146TMEM127c.452C= (p.Ser151=)
c.200C= (p.Ser67=)
c.-467C= (n.-467C=)
2g.96254073G>TCA347652978TMEM127c.452C>A (p.Ser151Tyr)
c.200C>A (p.Ser67Tyr)
c.-467C>A (n.-467C>A)
2g.96254074A=CA1272522147TMEM127c.451T= (p.Ser151=)
c.199T= (p.Ser67=)
c.-468T= (n.-468T=)
2g.96254074A>CCA347652983TMEM127c.451T>G (p.Ser151Ala)
c.199T>G (p.Ser67Ala)
c.-468T>G (n.-468T>G)
 ClinVar dbSNP gnomAD v4
2g.96254074A>GCA52412161TMEM127c.451T>C (p.Ser151Pro)
c.199T>C (p.Ser67Pro)
c.-468T>C (n.-468T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.96254074A>TCA347652987TMEM127c.451T>A (p.Ser151Thr)
c.199T>A (p.Ser67Thr)
c.-468T>A (n.-468T>A)
2g.96254075A>CCA427808159TMEM127c.450T>G (p.Ala150=)
c.198T>G (p.Ala66=)
c.-469T>G (n.-469T>G)
 ClinVar dbSNP
2g.96254075A>GCA427808160TMEM127c.450T>C (p.Ala150=)
c.198T>C (p.Ala66=)
c.-469T>C (n.-469T>C)
2g.96254075A>TCA427808161TMEM127c.450T>A (p.Ala150=)
c.198T>A (p.Ala66=)
c.-469T>A (n.-469T>A)
2g.96254076G>ACA347652990TMEM127c.449C>T (p.Ala150Val)
c.197C>T (p.Ala66Val)
c.-470C>T (n.-470C>T)
 ClinVar gnomAD v4
2g.96254076G>CCA347652993TMEM127c.449C>G (p.Ala150Gly)
c.197C>G (p.Ala66Gly)
c.-470C>G (n.-470C>G)
2g.96254076G>TCA347652995TMEM127c.449C>A (p.Ala150Asp)
c.197C>A (p.Ala66Asp)
c.-470C>A (n.-470C>A)
 ClinVar
2g.96254077C>ACA347652998TMEM127c.448G>T (p.Ala150Ser)
c.196G>T (p.Ala66Ser)
c.-471G>T (n.-471G>T)
2g.96254077C=CA1272522148TMEM127c.448G= (p.Ala150=)
c.196G= (p.Ala66=)
c.-471G= (n.-471G=)
2g.96254077C>GCA347653000TMEM127c.448G>C (p.Ala150Pro)
c.196G>C (p.Ala66Pro)
c.-471G>C (n.-471G>C)
 ClinVar dbSNP gnomAD v4
2g.96254077C>TCA347653001TMEM127c.448G>A (p.Ala150Thr)
c.196G>A (p.Ala66Thr)
c.-471G>A (n.-471G>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.96254078C>ACA347653003TMEM127c.447G>T (p.Trp149Cys)
c.195G>T (p.Trp65Cys)
c.-472G>T (n.-472G>T)
2g.96254078C=CA1272522149TMEM127c.447G= (p.Trp149=)
c.195G= (p.Trp65=)
c.-472G= (n.-472G=)
2g.96254078C>GCA347653006TMEM127c.447G>C (p.Trp149Cys)
c.195G>C (p.Trp65Cys)
c.-472G>C (n.-472G>C)
2g.96254078C>TCA269760TMEM127c.447G>A (p.Trp149Ter)
c.195G>A (p.Trp65Ter)
c.-472G>A (n.-472G>A)
 ClinVar dbSNP gnomAD v4
2g.96254079C>ACA347653017TMEM127c.446G>T (p.Trp149Leu)
c.194G>T (p.Trp65Leu)
c.-473G>T (n.-473G>T)
 COSMIC
2g.96254079C>GCA347653021TMEM127c.446G>C (p.Trp149Ser)
c.194G>C (p.Trp65Ser)
c.-473G>C (n.-473G>C)
 ClinVar
2g.96254079C>TCA347653019TMEM127c.446G>A (p.Trp149Ter)
c.194G>A (p.Trp65Ter)
c.-473G>A (n.-473G>A)
2g.96254080A>CCA347653025TMEM127c.445T>G (p.Trp149Gly)
c.193T>G (p.Trp65Gly)
c.-474T>G (n.-474T>G)
2g.96254080A>GCA347653028TMEM127c.445T>C (p.Trp149Arg)
c.193T>C (p.Trp65Arg)
c.-474T>C (n.-474T>C)
 COSMIC
2g.96254080A>TCA347653033TMEM127c.445T>A (p.Trp149Arg)
c.193T>A (p.Trp65Arg)
c.-474T>A (n.-474T>A)
2g.96254081dupCA2602344478TMEM127c.445dup (p.Trp149LeufsTer4)
c.193dup (p.Trp65LeufsTer4)
c.-474dup (n.-474dup)
 gnomAD v3 gnomAD v4
2g.96254082_96254084delCA2586964989TMEM127c.443_445del (p.Tyr148del)
c.191_193del (p.Tyr64del)
c.-476_-474del (n.-476_-474del)
2g.96254081A=CA1272522150TMEM127c.444T= (p.Tyr148=)
c.192T= (p.Tyr64=)
c.-475T= (n.-475T=)
2g.96254081A>CCA347653035TMEM127c.444T>G (p.Tyr148Ter)
c.192T>G (p.Tyr64Ter)
c.-475T>G (n.-475T>G)
2g.96254081A>GCA1777301TMEM127c.444T>C (p.Tyr148=)
c.192T>C (p.Tyr64=)
c.-475T>C (n.-475T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96254081A>TCA347653043TMEM127c.444T>A (p.Tyr148Ter)
c.192T>A (p.Tyr64Ter)
c.-475T>A (n.-475T>A)
 gnomAD v4
2g.96254082T>ACA347653048TMEM127c.443A>T (p.Tyr148Phe)
c.191A>T (p.Tyr64Phe)
c.-476A>T (n.-476A>T)
 ClinVar dbSNP gnomAD v4
2g.96254082T>CCA347653050TMEM127c.443A>G (p.Tyr148Cys)
c.191A>G (p.Tyr64Cys)
c.-476A>G (n.-476A>G)
2g.96254082T>GCA347653051TMEM127c.443A>C (p.Tyr148Ser)
c.191A>C (p.Tyr64Ser)
c.-476A>C (n.-476A>C)
2g.96254082T=CA1272522151TMEM127c.443A= (p.Tyr148=)
c.191A= (p.Tyr64=)
c.-476A= (n.-476A=)
2g.96254083A>CCA347653054TMEM127c.442T>G (p.Tyr148Asp)
c.190T>G (p.Tyr64Asp)
c.-477T>G (n.-477T>G)
2g.96254083A>GCA347653056TMEM127c.442T>C (p.Tyr148His)
c.190T>C (p.Tyr64His)
c.-477T>C (n.-477T>C)
2g.96254083A>TCA347653057TMEM127c.442T>A (p.Tyr148Asn)
c.190T>A (p.Tyr64Asn)
c.-477T>A (n.-477T>A)
2g.96254085_96254087delCA2586964990TMEM127c.440_442del (p.Ser147del)
c.188_190del (p.Ser63del)
c.-479_-477del (n.-479_-477del)
2g.96254086_96254090delCA2697550983TMEM127c.438_442del (p.Phe146LeufsTer5)
c.186_190del (p.Phe62LeufsTer5)
c.-481_-477del (n.-481_-477del)
 ClinVar
2g.96254084A>CCA427807377TMEM127c.441T>G (p.Ser147=)
c.189T>G (p.Ser63=)
c.-478T>G (n.-478T>G)
2g.96254084A>GCA427807376TMEM127c.441T>C (p.Ser147=)
c.189T>C (p.Ser63=)
c.-478T>C (n.-478T>C)
2g.96254084A>TCA427807375TMEM127c.441T>A (p.Ser147=)
c.189T>A (p.Ser63=)
c.-478T>A (n.-478T>A)
2g.96254085G>ACA347653065TMEM127c.440C>T (p.Ser147Phe)
c.188C>T (p.Ser63Phe)
c.-479C>T (n.-479C>T)
2g.96254085G>CCA347653061TMEM127c.440C>G (p.Ser147Cys)
c.188C>G (p.Ser63Cys)
c.-479C>G (n.-479C>G)
2g.96254085G>TCA347653062TMEM127c.440C>A (p.Ser147Tyr)
c.188C>A (p.Ser63Tyr)
c.-479C>A (n.-479C>A)
2g.96254086A>CCA347653068TMEM127c.439T>G (p.Ser147Ala)
c.187T>G (p.Ser63Ala)
c.-480T>G (n.-480T>G)
2g.96254086A>GCA347653070TMEM127c.439T>C (p.Ser147Pro)
c.187T>C (p.Ser63Pro)
c.-480T>C (n.-480T>C)
2g.96254086A>TCA347653073TMEM127c.439T>A (p.Ser147Thr)
c.187T>A (p.Ser63Thr)
c.-480T>A (n.-480T>A)
2g.96254087A=CA1272522152TMEM127c.438T= (p.Phe146=)
c.186T= (p.Phe62=)
c.-481T= (n.-481T=)
2g.96254087A>CCA347653078TMEM127c.438T>G (p.Phe146Leu)
c.186T>G (p.Phe62Leu)
c.-481T>G (n.-481T>G)
2g.96254087A>GCA1777302TMEM127c.438T>C (p.Phe146=)
c.186T>C (p.Phe62=)
c.-481T>C (n.-481T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254087A>TCA347653080TMEM127c.438T>A (p.Phe146Leu)
c.186T>A (p.Phe62Leu)
c.-481T>A (n.-481T>A)
2g.96254088A>CCA347653081TMEM127c.437T>G (p.Phe146Cys)
c.185T>G (p.Phe62Cys)
c.-482T>G (n.-482T>G)
2g.96254088A>GCA347653082TMEM127c.437T>C (p.Phe146Ser)
c.185T>C (p.Phe62Ser)
c.-482T>C (n.-482T>C)
 gnomAD v4
2g.96254088A>TCA347653083TMEM127c.437T>A (p.Phe146Tyr)
c.185T>A (p.Phe62Tyr)
c.-482T>A (n.-482T>A)
2g.96254089A>CCA347653084TMEM127c.436T>G (p.Phe146Val)
c.184T>G (p.Phe62Val)
c.-483T>G (n.-483T>G)
2g.96254089A>GCA347653085TMEM127c.436T>C (p.Phe146Leu)
c.184T>C (p.Phe62Leu)
c.-483T>C (n.-483T>C)
2g.96254089A>TCA347653088TMEM127c.436T>A (p.Phe146Ile)
c.184T>A (p.Phe62Ile)
c.-483T>A (n.-483T>A)
2g.96254090G>ACA427807384TMEM127c.435C>T (p.Gly145=)
c.183C>T (p.Gly61=)
c.-484C>T (n.-484C>T)
2g.96254090G>CCA1777303TMEM127c.435C>G (p.Gly145=)
c.183C>G (p.Gly61=)
c.-484C>G (n.-484C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96254090G=CA1272522153TMEM127c.435C= (p.Gly145=)
c.183C= (p.Gly61=)
c.-484C= (n.-484C=)
2g.96254090G>TCA427807385TMEM127c.435C>A (p.Gly145=)
c.183C>A (p.Gly61=)
c.-484C>A (n.-484C>A)
2g.96254091C>ACA347653095TMEM127c.434G>T (p.Gly145Val)
c.182G>T (p.Gly61Val)
c.-485G>T (n.-485G>T)
 dbSNP
2g.96254091C>GCA347653092TMEM127c.434G>C (p.Gly145Ala)
c.182G>C (p.Gly61Ala)
c.-485G>C (n.-485G>C)
 ClinVar
2g.96254091C>TCA347653097TMEM127c.434G>A (p.Gly145Asp)
c.182G>A (p.Gly61Asp)
c.-485G>A (n.-485G>A)
 dbSNP
2g.96254092C>ACA347653100TMEM127c.433G>T (p.Gly145Cys)
c.181G>T (p.Gly61Cys)
c.-486G>T (n.-486G>T)
 dbSNP
2g.96254092C>GCA347653101TMEM127c.433G>C (p.Gly145Arg)
c.181G>C (p.Gly61Arg)
c.-486G>C (n.-486G>C)
2g.96254092C>TCA347653103TMEM127c.433G>A (p.Gly145Ser)
c.181G>A (p.Gly61Ser)
c.-486G>A (n.-486G>A)
 ClinVar gnomAD v4
2g.96254093A>CCA347653106TMEM127c.432T>G (p.Ile144Met)
c.180T>G (p.Ile60Met)
c.-487T>G (n.-487T>G)
2g.96254093A>GCA427807389TMEM127c.432T>C (p.Ile144=)
c.180T>C (p.Ile60=)
c.-487T>C (n.-487T>C)
 ClinVar
2g.96254093A>TCA427807390TMEM127c.432T>A (p.Ile144=)
c.180T>A (p.Ile60=)
c.-487T>A (n.-487T>A)
 gnomAD v4
2g.96254094A=CA1272522154TMEM127c.431T= (p.Ile144=)
c.179T= (p.Ile60=)
c.-488T= (n.-488T=)
2g.96254094A>CCA347653108TMEM127c.431T>G (p.Ile144Ser)
c.179T>G (p.Ile60Ser)
c.-488T>G (n.-488T>G)
2g.96254094A>GCA52412216TMEM127c.431T>C (p.Ile144Thr)
c.179T>C (p.Ile60Thr)
c.-488T>C (n.-488T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.96254094A>TCA347653112TMEM127c.431T>A (p.Ile144Asn)
c.179T>A (p.Ile60Asn)
c.-488T>A (n.-488T>A)
2g.96254095T>ACA52412220TMEM127c.430A>T (p.Ile144Phe)
c.178A>T (p.Ile60Phe)
c.-489A>T (n.-489A>T)
 ClinVar dbSNP gnomAD v4
2g.96254095T>CCA347653116TMEM127c.430A>G (p.Ile144Val)
c.178A>G (p.Ile60Val)
c.-489A>G (n.-489A>G)
2g.96254095T>GCA347653118TMEM127c.430A>C (p.Ile144Leu)
c.178A>C (p.Ile60Leu)
c.-489A>C (n.-489A>C)
2g.96254095T=CA1272522155TMEM127c.430A= (p.Ile144=)
c.178A= (p.Ile60=)
c.-489A= (n.-489A=)
2g.96254096G>ACA427807392TMEM127c.429C>T (p.Val143=)
c.177C>T (p.Val59=)
c.-490C>T (n.-490C>T)
2g.96254096G>CCA427807393TMEM127c.429C>G (p.Val143=)
c.177C>G (p.Val59=)
c.-490C>G (n.-490C>G)
2g.96254096G>TCA427807394TMEM127c.429C>A (p.Val143=)
c.177C>A (p.Val59=)
c.-490C>A (n.-490C>A)
2g.96254097A>CCA347653120TMEM127c.428T>G (p.Val143Gly)
c.176T>G (p.Val59Gly)
c.-491T>G (n.-491T>G)
2g.96254097A>GCA347653124TMEM127c.428T>C (p.Val143Ala)
c.176T>C (p.Val59Ala)
c.-491T>C (n.-491T>C)
2g.96254097A>TCA347653127TMEM127c.428T>A (p.Val143Asp)
c.176T>A (p.Val59Asp)
c.-491T>A (n.-491T>A)
2g.96254098C>ACA347653130TMEM127c.427G>T (p.Val143Phe)
c.175G>T (p.Val59Phe)
c.-492G>T (n.-492G>T)
2g.96254098C=CA1272522156TMEM127c.427G= (p.Val143=)
c.175G= (p.Val59=)
c.-492G= (n.-492G=)
2g.96254098C>GCA347653134TMEM127c.427G>C (p.Val143Leu)
c.175G>C (p.Val59Leu)
c.-492G>C (n.-492G>C)
2g.96254098C>TCA1777304TMEM127c.427G>A (p.Val143Ile)
c.175G>A (p.Val59Ile)
c.-492G>A (n.-492G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254099G>ACA52412228TMEM127c.426C>T (p.Thr142=)
c.174C>T (p.Thr58=)
c.-493C>T (n.-493C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96254099G>CCA427807398TMEM127c.426C>G (p.Thr142=)
c.174C>G (p.Thr58=)
c.-493C>G (n.-493C>G)
2g.96254099G=CA1272522157TMEM127c.426C= (p.Thr142=)
c.174C= (p.Thr58=)
c.-493C= (n.-493C=)
2g.96254099G>TCA427807399TMEM127c.426C>A (p.Thr142=)
c.174C>A (p.Thr58=)
c.-493C>A (n.-493C>A)
2g.96254101_96254103dupCA2586964992TMEM127c.424_426dup (p.Thr142_Val143insThr)
c.172_174dup (p.Thr58_Val59insThr)
c.-495_-493dup (n.-495_-493dup)
2g.96254101_96254103delCA2586964991TMEM127c.424_426del (p.Thr142del)
c.172_174del (p.Thr58del)
c.-495_-493del (n.-495_-493del)
2g.96254100G>ACA347653135TMEM127c.425C>T (p.Thr142Ile)
c.173C>T (p.Thr58Ile)
c.-494C>T (n.-494C>T)
 dbSNP gnomAD v4
2g.96254100G>CCA347653136TMEM127c.425C>G (p.Thr142Ser)
c.173C>G (p.Thr58Ser)
c.-494C>G (n.-494C>G)
2g.96254100G>TCA347653137TMEM127c.425C>A (p.Thr142Asn)
c.173C>A (p.Thr58Asn)
c.-494C>A (n.-494C>A)
 ClinVar gnomAD v4
2g.96254101T>ACA347653138TMEM127c.424A>T (p.Thr142Ser)
c.172A>T (p.Thr58Ser)
c.-495A>T (n.-495A>T)
2g.96254101T>CCA347653140TMEM127c.424A>G (p.Thr142Ala)
c.172A>G (p.Thr58Ala)
c.-495A>G (n.-495A>G)
 ClinVar
2g.96254101T>GCA52412232TMEM127c.424A>C (p.Thr142Pro)
c.172A>C (p.Thr58Pro)
c.-495A>C (n.-495A>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.96254101T=CA1272522158TMEM127c.424A= (p.Thr142=)
c.172A= (p.Thr58=)
c.-495A= (n.-495A=)
2g.96254102G>ACA427807402TMEM127c.423C>T (p.Ala141=)
c.171C>T (p.Ala57=)
c.-496C>T (n.-496C>T)
2g.96254102G>CCA427807404TMEM127c.423C>G (p.Ala141=)
c.171C>G (p.Ala57=)
c.-496C>G (n.-496C>G)
2g.96254102G>TCA427807405TMEM127c.423C>A (p.Ala141=)
c.171C>A (p.Ala57=)
c.-496C>A (n.-496C>A)
2g.96254103G>ACA347653144TMEM127c.422C>T (p.Ala141Val)
c.170C>T (p.Ala57Val)
c.-497C>T (n.-497C>T)
 dbSNP
2g.96254103G>CCA347653147TMEM127c.422C>G (p.Ala141Gly)
c.170C>G (p.Ala57Gly)
c.-497C>G (n.-497C>G)
2g.96254103G>TCA347653149TMEM127c.422C>A (p.Ala141Asp)
c.170C>A (p.Ala57Asp)
c.-497C>A (n.-497C>A)
2g.96254104C>ACA347653154TMEM127c.421G>T (p.Ala141Ser)
c.169G>T (p.Ala57Ser)
c.-498G>T (n.-498G>T)
 dbSNP
2g.96254104C>GCA347653157TMEM127c.421G>C (p.Ala141Pro)
c.169G>C (p.Ala57Pro)
c.-498G>C (n.-498G>C)
 dbSNP
2g.96254104C>TCA347653152TMEM127c.421G>A (p.Ala141Thr)
c.169G>A (p.Ala57Thr)
c.-498G>A (n.-498G>A)
 dbSNP
2g.96254105A>CCA347653159TMEM127c.420T>G (p.Cys140Trp)
c.168T>G (p.Cys56Trp)
c.-499T>G (n.-499T>G)
2g.96254105A>GCA427807407TMEM127c.420T>C (p.Cys140=)
c.168T>C (p.Cys56=)
c.-499T>C (n.-499T>C)
2g.96254105A>TCA347653161TMEM127c.420T>A (p.Cys140Ter)
c.168T>A (p.Cys56Ter)
c.-499T>A (n.-499T>A)
2g.96254106C>ACA347653164TMEM127c.419G>T (p.Cys140Phe)
c.167G>T (p.Cys56Phe)
c.-500G>T (n.-500G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.96254106C=CA1272522159TMEM127c.419G= (p.Cys140=)
c.167G= (p.Cys56=)
c.-500G= (n.-500G=)
2g.96254106C>GCA347653167TMEM127c.419G>C (p.Cys140Ser)
c.167G>C (p.Cys56Ser)
c.-500G>C (n.-500G>C)
2g.96254106C>TCA269757TMEM127c.419G>A (p.Cys140Tyr)
c.167G>A (p.Cys56Tyr)
c.-500G>A (n.-500G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.96254107A=CA1272522160TMEM127c.418T= (p.Cys140=)
c.166T= (p.Cys56=)
c.-501T= (n.-501T=)
2g.96254107A>CCA347653171TMEM127c.418T>G (p.Cys140Gly)
c.166T>G (p.Cys56Gly)
c.-501T>G (n.-501T>G)
 dbSNP
2g.96254107A>GCA269754TMEM127c.418T>C (p.Cys140Arg)
c.166T>C (p.Cys56Arg)
c.-501T>C (n.-501T>C)
 ClinVar dbSNP
2g.96254107A>TCA347653174TMEM127c.418T>A (p.Cys140Ser)
c.166T>A (p.Cys56Ser)
c.-501T>A (n.-501T>A)
 ClinVar
2g.96254108C>ACA347653175TMEM127c.417G>T (p.Gln139His)
c.165G>T (p.Gln55His)
c.-502G>T (n.-502G>T)
2g.96254108C>GCA347653176TMEM127c.417G>C (p.Gln139His)
c.165G>C (p.Gln55His)
c.-502G>C (n.-502G>C)
2g.96254108C>TCA427807412TMEM127c.417G>A (p.Gln139=)
c.165G>A (p.Gln55=)
c.-502G>A (n.-502G>A)
2g.96254109T>ACA347653177TMEM127c.416A>T (p.Gln139Leu)
c.164A>T (p.Gln55Leu)
c.-503A>T (n.-503A>T)
2g.96254109T>CCA347653178TMEM127c.416A>G (p.Gln139Arg)
c.164A>G (p.Gln55Arg)
c.-503A>G (n.-503A>G)
 ClinVar gnomAD v4 COSMIC
2g.96254109T>GCA347653179TMEM127c.416A>C (p.Gln139Pro)
c.164A>C (p.Gln55Pro)
c.-503A>C (n.-503A>C)
2g.96254110G>ACA347653184TMEM127c.415C>T (p.Gln139Ter)
c.163C>T (p.Gln55Ter)
c.-504C>T (n.-504C>T)
 ClinVar gnomAD v4
2g.96254110G>CCA347653182TMEM127c.415C>G (p.Gln139Glu)
c.163C>G (p.Gln55Glu)
c.-504C>G (n.-504C>G)
2g.96254110G>TCA347653181TMEM127c.415C>A (p.Gln139Lys)
c.163C>A (p.Gln55Lys)
c.-504C>A (n.-504C>A)
2g.96254110_96254113delCA2660177461TMEM127c.412_415del (p.Leu138SerfsTer?)
c.160_163del (p.Leu54SerfsTer?)
c.-507_-504del (n.-507_-504del)
 gnomAD v4
2g.96254111C>ACA427807417TMEM127c.414G>T (p.Leu138=)
c.162G>T (p.Leu54=)
c.-505G>T (n.-505G>T)
 ClinVar dbSNP
2g.96254111C>GCA427807416TMEM127c.414G>C (p.Leu138=)
c.162G>C (p.Leu54=)
c.-505G>C (n.-505G>C)
2g.96254111C>TCA427807418TMEM127c.414G>A (p.Leu138=)
c.162G>A (p.Leu54=)
c.-505G>A (n.-505G>A)
 ClinVar
2g.96254112A=CA1272522161TMEM127c.413T= (p.Leu138=)
c.161T= (p.Leu54=)
c.-506T= (n.-506T=)
2g.96254112A>CCA1777305TMEM127c.413T>G (p.Leu138Arg)
c.161T>G (p.Leu54Arg)
c.-506T>G (n.-506T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96254112A>GCA16611125TMEM127c.413T>C (p.Leu138Pro)
c.161T>C (p.Leu54Pro)
c.-506T>C (n.-506T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96254112A>TCA347653187TMEM127c.413T>A (p.Leu138Gln)
c.161T>A (p.Leu54Gln)
c.-506T>A (n.-506T>A)
 dbSNP gnomAD v3 gnomAD v4
2g.96254113G>ACA427807419TMEM127c.412C>T (p.Leu138=)
c.160C>T (p.Leu54=)
c.-507C>T (n.-507C>T)
 dbSNP
2g.96254113G>CCA347653189TMEM127c.412C>G (p.Leu138Val)
c.160C>G (p.Leu54Val)
c.-507C>G (n.-507C>G)
 ClinVar dbSNP
2g.96254113G=CA1272522162TMEM127c.412C= (p.Leu138=)
c.160C= (p.Leu54=)
c.-507C= (n.-507C=)
2g.96254113G>TCA347653191TMEM127c.412C>A (p.Leu138Met)
c.160C>A (p.Leu54Met)
c.-507C>A (n.-507C>A)
2g.96254114A=CA1272522163TMEM127c.411T= (p.Val137=)
c.159T= (p.Val53=)
c.-508T= (n.-508T=)
2g.96254114A>CCA427807421TMEM127c.411T>G (p.Val137=)
c.159T>G (p.Val53=)
c.-508T>G (n.-508T>G)
2g.96254114A>GCA427807423TMEM127c.411T>C (p.Val137=)
c.159T>C (p.Val53=)
c.-508T>C (n.-508T>C)
 dbSNP
2g.96254114A>TCA1777306TMEM127c.411T>A (p.Val137=)
c.159T>A (p.Val53=)
c.-508T>A (n.-508T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254115A>CCA347653192TMEM127c.410T>G (p.Val137Gly)
c.158T>G (p.Val53Gly)
c.-509T>G (n.-509T>G)
2g.96254115A>GCA347653193TMEM127c.410T>C (p.Val137Ala)
c.158T>C (p.Val53Ala)
c.-509T>C (n.-509T>C)
2g.96254115A>TCA347653194TMEM127c.410T>A (p.Val137Asp)
c.158T>A (p.Val53Asp)
c.-509T>A (n.-509T>A)
2g.96254116C>ACA347653198TMEM127c.410-1G>T (n.410-1G>T)
c.158-1G>T (n.158-1G>T)
c.-509-1G>T (n.-509-1G>T)
 dbSNP
2g.96254116C>GCA347653200TMEM127c.410-1G>C (n.410-1G>C)
c.158-1G>C (n.158-1G>C)
c.-509-1G>C (n.-509-1G>C)
 ClinVar
2g.96254116C>TCA347653202TMEM127c.410-1G>A (n.410-1G>A)
c.158-1G>A (n.158-1G>A)
c.-509-1G>A (n.-509-1G>A)
2g.96254117T>ACA347653205TMEM127c.410-2A>T (n.410-2A>T)
c.158-2A>T (n.158-2A>T)
c.-509-2A>T (n.-509-2A>T)
2g.96254117T>CCA347653204TMEM127c.410-2A>G (n.410-2A>G)
c.158-2A>G (n.158-2A>G)
c.-509-2A>G (n.-509-2A>G)
 ClinVar dbSNP
2g.96254117T>GCA113854TMEM127c.410-2A>C (n.410-2A>C)
c.158-2A>C (n.158-2A>C)
c.-509-2A>C (n.-509-2A>C)
 ClinVar dbSNP
2g.96254117T=CA1272522164TMEM127c.410-2A= (n.410-2A=)
c.158-2A= (n.158-2A=)
c.-509-2A= (n.-509-2A=)
2g.96254119G>ACA534634899TMEM127c.410-4C>T (n.410-4C>T)
c.158-4C>T (n.158-4C>T)
c.-509-4C>T (n.-509-4C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96254119G>CCA2739271171TMEM127c.410-4C>G (n.410-4C>G)
c.158-4C>G (n.158-4C>G)
c.-509-4C>G (n.-509-4C>G)
 ClinVar
2g.96254119G=CA1272522165TMEM127c.410-4C= (n.410-4C=)
c.158-4C= (n.158-4C=)
c.-509-4C= (n.-509-4C=)
2g.96254120G>ACA534634900TMEM127c.410-5C>T (n.410-5C>T)
c.158-5C>T (n.158-5C>T)
c.-509-5C>T (n.-509-5C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96254120G=CA1272522166TMEM127c.410-5C= (n.410-5C=)
c.158-5C= (n.158-5C=)
c.-509-5C= (n.-509-5C=)
2g.96254121A=CA1272522167TMEM127c.410-6T= (n.410-6T=)
c.158-6T= (n.158-6T=)
c.-509-6T= (n.-509-6T=)
2g.96254121A>CCA1777307TMEM127c.410-6T>G (n.410-6T>G)
c.158-6T>G (n.158-6T>G)
c.-509-6T>G (n.-509-6T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96254121A>TCA2739271172TMEM127c.410-6T>A (n.410-6T>A)
c.158-6T>A (n.158-6T>A)
c.-509-6T>A (n.-509-6T>A)
 ClinVar
2g.96254122G>ACA1777308TMEM127c.410-7C>T (n.410-7C>T)
c.158-7C>T (n.158-7C>T)
c.-509-7C>T (n.-509-7C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254122G=CA1272522168TMEM127c.410-7C= (n.410-7C=)
c.158-7C= (n.158-7C=)
c.-509-7C= (n.-509-7C=)
2g.96254124C>TCA2580068319TMEM127c.410-9G>A (n.410-9G>A)
c.158-9G>A (n.158-9G>A)
c.-509-9G>A (n.-509-9G>A)
 ClinVar gnomAD v4
2g.96254124_96254125delinsCACA1272522169TMEM127c.410-10_410-9delinsTG (n.410-10_410-9delinsTG)
c.158-10_158-9delinsTG (n.158-10_158-9delinsTG)
c.-509-10_-509-9delinsTG (n.-509-10_-509-9delinsTG)
2g.96254125delCA534634901TMEM127c.410-10del (n.410-10del)
c.158-10del (n.158-10del)
c.-509-10del (n.-509-10del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.96254127_96254128delCA2660177498TMEM127c.410-11_410-10del (n.410-11_410-10del)
c.158-11_158-10del (n.158-11_158-10del)
c.-509-11_-509-10del (n.-509-11_-509-10del)
 ClinVar gnomAD v4
2g.96254126G>TCA2660177501TMEM127c.410-11C>A (n.410-11C>A)
c.158-11C>A (n.158-11C>A)
c.-509-11C>A (n.-509-11C>A)
 gnomAD v4
2g.96254127A=CA1272522170TMEM127c.410-12T= (n.410-12T=)
c.158-12T= (n.158-12T=)
c.-509-12T= (n.-509-12T=)
2g.96254127A>GCA534634902TMEM127c.410-12T>C (n.410-12T>C)
c.158-12T>C (n.158-12T>C)
c.-509-12T>C (n.-509-12T>C)
 ClinVar dbSNP gnomAD v2
2g.96254127_96254128delinsAGCA1272522171TMEM127c.410-13_410-12delinsCT (n.410-13_410-12delinsCT)
c.158-13_158-12delinsCT (n.158-13_158-12delinsCT)
c.-509-13_-509-12delinsCT (n.-509-13_-509-12delinsCT)
2g.96254128G>ACA2573135952TMEM127c.410-13C>T (n.410-13C>T)
c.158-13C>T (n.158-13C>T)
c.-509-13C>T (n.-509-13C>T)
 ClinVar dbSNP
2g.96254129_96254130dupCA2580068320TMEM127c.410-14_410-13dup (n.410-14_410-13dup)
c.158-14_158-13dup (n.158-14_158-13dup)
c.-509-14_-509-13dup (n.-509-14_-509-13dup)
 ClinVar gnomAD v4
2g.96254130delCA534634903TMEM127c.410-13del (n.410-13del)
c.158-13del (n.158-13del)
c.-509-13del (n.-509-13del)
 dbSNP gnomAD v2 gnomAD v4
2g.96254129G>ACA534634904TMEM127c.410-14C>T (n.410-14C>T)
c.158-14C>T (n.158-14C>T)
c.-509-14C>T (n.-509-14C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.96254129G=CA1272522172TMEM127c.410-14C= (n.410-14C=)
c.158-14C= (n.158-14C=)
c.-509-14C= (n.-509-14C=)
2g.96254130G>ACA534634905TMEM127c.410-15C>T (n.410-15C>T)
c.158-15C>T (n.158-15C>T)
c.-509-15C>T (n.-509-15C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.96254130G=CA1272522173TMEM127c.410-15C= (n.410-15C=)
c.158-15C= (n.158-15C=)
c.-509-15C= (n.-509-15C=)
2g.96254130G>TCA2660177515TMEM127c.410-15C>A (n.410-15C>A)
c.158-15C>A (n.158-15C>A)
c.-509-15C>A (n.-509-15C>A)
 gnomAD v4
2g.96254132C>ACA2660177520TMEM127c.410-17G>T (n.410-17G>T)
c.158-17G>T (n.158-17G>T)
c.-509-17G>T (n.-509-17G>T)
 gnomAD v4
2g.96254132C=CA1272522174TMEM127c.410-17G= (n.410-17G=)
c.158-17G= (n.158-17G=)
c.-509-17G= (n.-509-17G=)
2g.96254132C>TCA1777309TMEM127c.410-17G>A (n.410-17G>A)
c.158-17G>A (n.158-17G>A)
c.-509-17G>A (n.-509-17G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254132_96254133delinsCACA1272522175TMEM127c.410-18_410-17delinsTG (n.410-18_410-17delinsTG)
c.158-18_158-17delinsTG (n.158-18_158-17delinsTG)
c.-509-18_-509-17delinsTG (n.-509-18_-509-17delinsTG)
2g.96254133delCA895717480TMEM127c.410-18del (n.410-18del)
c.158-18del (n.158-18del)
c.-509-18del (n.-509-18del)
 ClinVar dbSNP
2g.96254133A=CA1272522176TMEM127c.410-18T= (n.410-18T=)
c.158-18T= (n.158-18T=)
c.-509-18T= (n.-509-18T=)
2g.96254133A>GCA895717483TMEM127c.410-18T>C (n.410-18T>C)
c.158-18T>C (n.158-18T>C)
c.-509-18T>C (n.-509-18T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.96254134G>ACA534634906TMEM127c.410-19C>T (n.410-19C>T)
c.158-19C>T (n.158-19C>T)
c.-509-19C>T (n.-509-19C>T)
 ClinVar dbSNP gnomAD v2
2g.96254134G=CA1272522177TMEM127c.410-19C= (n.410-19C=)
c.158-19C= (n.158-19C=)
c.-509-19C= (n.-509-19C=)
2g.96254135C>TCA2660177528TMEM127c.410-20G>A (n.410-20G>A)
c.158-20G>A (n.158-20G>A)
c.-509-20G>A (n.-509-20G>A)
 gnomAD v4
2g.96254137C>TCA2660177530TMEM127c.410-22G>A (n.410-22G>A)
c.158-22G>A (n.158-22G>A)
c.-509-22G>A (n.-509-22G>A)
 gnomAD v4
2g.96254138A=CA1272522178TMEM127c.410-23T= (n.410-23T=)
c.158-23T= (n.158-23T=)
c.-509-23T= (n.-509-23T=)
2g.96254138A>GCA534634907TMEM127c.410-23T>C (n.410-23T>C)
c.158-23T>C (n.158-23T>C)
c.-509-23T>C (n.-509-23T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.96254139G>ACA1272522180TMEM127c.410-24C>T (n.410-24C>T)
c.158-24C>T (n.158-24C>T)
c.-509-24C>T (n.-509-24C>T)
 dbSNP gnomAD v4
2g.96254139G>CCA895717493TMEM127c.410-24C>G (n.410-24C>G)
c.158-24C>G (n.158-24C>G)
c.-509-24C>G (n.-509-24C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.96254139G=CA1272522179TMEM127c.410-24C= (n.410-24C=)
c.158-24C= (n.158-24C=)
c.-509-24C= (n.-509-24C=)
2g.96254139G>TCA2660177536TMEM127c.410-24C>A (n.410-24C>A)
c.158-24C>A (n.158-24C>A)
c.-509-24C>A (n.-509-24C>A)
 gnomAD v4
2g.96254142G>ACA1777310TMEM127c.410-27C>T (n.410-27C>T)
c.158-27C>T (n.158-27C>T)
c.-509-27C>T (n.-509-27C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96254142G=CA1272522181TMEM127c.410-27C= (n.410-27C=)
c.158-27C= (n.158-27C=)
c.-509-27C= (n.-509-27C=)
2g.96254143G>ACA52412299TMEM127c.410-28C>T (n.410-28C>T)
c.158-28C>T (n.158-28C>T)
c.-509-28C>T (n.-509-28C>T)
 dbSNP
2g.96254143G=CA1272522182TMEM127c.410-28C= (n.410-28C=)
c.158-28C= (n.158-28C=)
c.-509-28C= (n.-509-28C=)
2g.96254144G>ACA1272522184TMEM127c.410-29C>T (n.410-29C>T)
c.158-29C>T (n.158-29C>T)
c.-509-29C>T (n.-509-29C>T)
 dbSNP
2g.96254144G=CA1272522183TMEM127c.410-29C= (n.410-29C=)
c.158-29C= (n.158-29C=)
c.-509-29C= (n.-509-29C=)
2g.96254145G>CCA2577034232TMEM127c.410-30C>G (n.410-30C>G)
c.158-30C>G (n.158-30C>G)
c.-509-30C>G (n.-509-30C>G)
2g.96254149_96254153delinsTAGTGCA1272522185TMEM127c.410-38_410-34delinsCACTA (n.410-38_410-34delinsCACTA)
c.158-38_158-34delinsCACTA (n.158-38_158-34delinsCACTA)
c.-509-38_-509-34delinsCACTA (n.-509-38_-509-34delinsCACTA)
2g.96254150A>GCA2751311973TMEM127c.410-35T>C (n.410-35T>C)
c.158-35T>C (n.158-35T>C)
c.-509-35T>C (n.-509-35T>C)
2g.96254152_96254155delCA52412303TMEM127c.410-38_410-35del (n.410-38_410-35del)
c.158-38_158-35del (n.158-38_158-35del)
c.-509-38_-509-35del (n.-509-38_-509-35del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched