Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.96253903_96254383delCA2573135942TMEM127c.410-265_625del
c.158-265_373del
c.-509-265_-294del
 ClinVar dbSNP
2g.96253952C>ACA427807880TMEM127c.573G>T (p.Thr191=)
c.321G>T (p.Thr107=)
c.-346G>T (n.-346G>T)
 dbSNP
2g.96253952C=CA1272522078TMEM127c.573G= (p.Thr191=)
c.321G= (p.Thr107=)
c.-346G= (n.-346G=)
2g.96253952C>GCA427807879TMEM127c.573G>C (p.Thr191=)
c.321G>C (p.Thr107=)
c.-346G>C (n.-346G>C)
 dbSNP
2g.96253952C>TCA1777276TMEM127c.573G>A (p.Thr191=)
c.321G>A (p.Thr107=)
c.-346G>A (n.-346G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96253953delCA2586964985TMEM127c.572del (p.Thr191ArgfsTer?)
c.320del (p.Thr107ArgfsTer?)
c.-347del (n.-347del)
2g.96253953G>ACA1777277TMEM127c.572C>T (p.Thr191Met)
c.320C>T (p.Thr107Met)
c.-347C>T (n.-347C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96253953G>CCA347652298TMEM127c.572C>G (p.Thr191Arg)
c.320C>G (p.Thr107Arg)
c.-347C>G (n.-347C>G)
 dbSNP
2g.96253953G=CA1272522079TMEM127c.572C= (p.Thr191=)
c.320C= (p.Thr107=)
c.-347C= (n.-347C=)
2g.96253953G>TCA347652299TMEM127c.572C>A (p.Thr191Lys)
c.320C>A (p.Thr107Lys)
c.-347C>A (n.-347C>A)
2g.96253954_96253977dupCA2580068313TMEM127c.549_572dup (p.Thr191_Ala192insGlyGlyAlaSerIleLeuAlaThr)
c.297_320dup (p.Thr107_Ala108insGlyGlyAlaSerIleLeuAlaThr)
c.-370_-347dup (n.-370_-347dup)
 ClinVar
2g.96253954T>ACA347652300TMEM127c.571A>T (p.Thr191Ser)
c.319A>T (p.Thr107Ser)
c.-348A>T (n.-348A>T)
 dbSNP
2g.96253954T>CCA347652302TMEM127c.571A>G (p.Thr191Ala)
c.319A>G (p.Thr107Ala)
c.-348A>G (n.-348A>G)
2g.96253954T>GCA347652304TMEM127c.571A>C (p.Thr191Pro)
c.319A>C (p.Thr107Pro)
c.-348A>C (n.-348A>C)
2g.96253954_96253955delinsTGCA1272522080TMEM127c.570_571delinsCA (p.Ala190=)
c.318_319delinsCA (p.Ala106=)
c.-349_-348delinsCA (n.-349_-348delinsCA)
2g.96253955G>ACA427807953TMEM127c.570C>T (p.Ala190=)
c.318C>T (p.Ala106=)
c.-349C>T (n.-349C>T)
 ClinVar dbSNP gnomAD v4
2g.96253955G>CCA427807955TMEM127c.570C>G (p.Ala190=)
c.318C>G (p.Ala106=)
c.-349C>G (n.-349C>G)
2g.96253955G=CA1272522081TMEM127c.570C= (p.Ala190=)
c.318C= (p.Ala106=)
c.-349C= (n.-349C=)
2g.96253955G>TCA427807958TMEM127c.570C>A (p.Ala190=)
c.318C>A (p.Ala106=)
c.-349C>A (n.-349C>A)
2g.96253956delCA534634931TMEM127c.570del (p.Thr191ArgfsTer?)
c.318del (p.Thr107ArgfsTer?)
c.-349del (n.-349del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.96253956G>ACA347652307TMEM127c.569C>T (p.Ala190Val)
c.317C>T (p.Ala106Val)
c.-350C>T (n.-350C>T)
 ClinVar
2g.96253956G>CCA347652310TMEM127c.569C>G (p.Ala190Gly)
c.317C>G (p.Ala106Gly)
c.-350C>G (n.-350C>G)
 ClinVar dbSNP
2g.96253956G>TCA347652316TMEM127c.569C>A (p.Ala190Asp)
c.317C>A (p.Ala106Asp)
c.-350C>A (n.-350C>A)
 ClinVar
2g.96253957C>ACA347652323TMEM127c.568G>T (p.Ala190Ser)
c.316G>T (p.Ala106Ser)
c.-351G>T (n.-351G>T)
 dbSNP
2g.96253957C=CA1272522082TMEM127c.568G= (p.Ala190=)
c.316G= (p.Ala106=)
c.-351G= (n.-351G=)
2g.96253957C>GCA1777278TMEM127c.568G>C (p.Ala190Pro)
c.316G>C (p.Ala106Pro)
c.-351G>C (n.-351G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96253957C>TCA347652319TMEM127c.568G>A (p.Ala190Thr)
c.316G>A (p.Ala106Thr)
c.-351G>A (n.-351G>A)
 ClinVar dbSNP gnomAD v4
2g.96253958C>ACA427807962TMEM127c.567G>T (p.Leu189=)
c.315G>T (p.Leu105=)
c.-352G>T (n.-352G>T)
 dbSNP
2g.96253958C=CA1272522083TMEM127c.567G= (p.Leu189=)
c.315G= (p.Leu105=)
c.-352G= (n.-352G=)
2g.96253958C>GCA427807963TMEM127c.567G>C (p.Leu189=)
c.315G>C (p.Leu105=)
c.-352G>C (n.-352G>C)
 dbSNP
2g.96253958C>TCA1777279TMEM127c.567G>A (p.Leu189=)
c.315G>A (p.Leu105=)
c.-352G>A (n.-352G>A)
 ClinVar dbSNP ExAC
2g.96253959A>CCA347652338TMEM127c.566T>G (p.Leu189Arg)
c.314T>G (p.Leu105Arg)
c.-353T>G (n.-353T>G)
2g.96253959A>GCA347652340TMEM127c.566T>C (p.Leu189Pro)
c.314T>C (p.Leu105Pro)
c.-353T>C (n.-353T>C)
 ClinVar gnomAD v4
2g.96253959A>TCA347652339TMEM127c.566T>A (p.Leu189Gln)
c.314T>A (p.Leu105Gln)
c.-353T>A (n.-353T>A)
 dbSNP
2g.96253960G>ACA188441TMEM127c.565C>T (p.Leu189=)
c.313C>T (p.Leu105=)
c.-354C>T (n.-354C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96253960G>CCA1777280TMEM127c.565C>G (p.Leu189Val)
c.313C>G (p.Leu105Val)
c.-354C>G (n.-354C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96253960G=CA1272522084TMEM127c.565C= (p.Leu189=)
c.313C= (p.Leu105=)
c.-354C= (n.-354C=)
2g.96253960G>TCA347652342TMEM127c.565C>A (p.Leu189Met)
c.313C>A (p.Leu105Met)
c.-354C>A (n.-354C>A)
 dbSNP
2g.96253961G>ACA1777281TMEM127c.564C>T (p.Ile188=)
c.312C>T (p.Ile104=)
c.-355C>T (n.-355C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96253961G>CCA347652345TMEM127c.564C>G (p.Ile188Met)
c.312C>G (p.Ile104Met)
c.-355C>G (n.-355C>G)
 dbSNP
2g.96253961G=CA1272522085TMEM127c.564C= (p.Ile188=)
c.312C= (p.Ile104=)
c.-355C= (n.-355C=)
2g.96253961G>TCA427807966TMEM127c.564C>A (p.Ile188=)
c.312C>A (p.Ile104=)
c.-355C>A (n.-355C>A)
 ClinVar
2g.96253962A=CA1272522086TMEM127c.563T= (p.Ile188=)
c.311T= (p.Ile104=)
c.-356T= (n.-356T=)
2g.96253962A>CCA347652347TMEM127c.563T>G (p.Ile188Ser)
c.311T>G (p.Ile104Ser)
c.-356T>G (n.-356T>G)
2g.96253962A>GCA347652349TMEM127c.563T>C (p.Ile188Thr)
c.311T>C (p.Ile104Thr)
c.-356T>C (n.-356T>C)
 dbSNP gnomAD v4
2g.96253962A>TCA347652351TMEM127c.563T>A (p.Ile188Asn)
c.311T>A (p.Ile104Asn)
c.-356T>A (n.-356T>A)
 dbSNP
2g.96253963T>ACA347652353TMEM127c.562A>T (p.Ile188Phe)
c.310A>T (p.Ile104Phe)
c.-357A>T (n.-357A>T)
 dbSNP
2g.96253963T>CCA1777282TMEM127c.562A>G (p.Ile188Val)
c.310A>G (p.Ile104Val)
c.-357A>G (n.-357A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96253963T>GCA347652355TMEM127c.562A>C (p.Ile188Leu)
c.310A>C (p.Ile104Leu)
c.-357A>C (n.-357A>C)
 dbSNP
2g.96253963T=CA1272522087TMEM127c.562A= (p.Ile188=)
c.310A= (p.Ile104=)
c.-357A= (n.-357A=)
2g.96253964T>ACA427807972TMEM127c.561A>T (p.Ser187=)
c.309A>T (p.Ser103=)
c.-358A>T (n.-358A>T)
2g.96253964T>CCA427807973TMEM127c.561A>G (p.Ser187=)
c.309A>G (p.Ser103=)
c.-358A>G (n.-358A>G)
 ClinVar dbSNP
2g.96253964T>GCA427807974TMEM127c.561A>C (p.Ser187=)
c.309A>C (p.Ser103=)
c.-358A>C (n.-358A>C)
 dbSNP
2g.96253965G>ACA347652360TMEM127c.560C>T (p.Ser187Leu)
c.308C>T (p.Ser103Leu)
c.-359C>T (n.-359C>T)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.96253965G>CCA347652359TMEM127c.560C>G (p.Ser187Ter)
c.308C>G (p.Ser103Ter)
c.-359C>G (n.-359C>G)
 ClinVar dbSNP
2g.96253965G=CA1272522088TMEM127c.560C= (p.Ser187=)
c.308C= (p.Ser103=)
c.-359C= (n.-359C=)
2g.96253965G>TCA347652357TMEM127c.560C>A (p.Ser187Ter)
c.308C>A (p.Ser103Ter)
c.-359C>A (n.-359C>A)
 dbSNP
2g.96253966A>CCA347652361TMEM127c.559T>G (p.Ser187Ala)
c.307T>G (p.Ser103Ala)
c.-360T>G (n.-360T>G)
2g.96253966A>GCA347652363TMEM127c.559T>C (p.Ser187Pro)
c.307T>C (p.Ser103Pro)
c.-360T>C (n.-360T>C)
 ClinVar dbSNP
2g.96253966A>TCA347652365TMEM127c.559T>A (p.Ser187Thr)
c.307T>A (p.Ser103Thr)
c.-360T>A (n.-360T>A)
 dbSNP
2g.96253967G>ACA427807980TMEM127c.558C>T (p.Ala186=)
c.306C>T (p.Ala102=)
c.-361C>T (n.-361C>T)
 gnomAD v4
2g.96253967G>CCA427807981TMEM127c.558C>G (p.Ala186=)
c.306C>G (p.Ala102=)
c.-361C>G (n.-361C>G)
2g.96253967G>TCA427807982TMEM127c.558C>A (p.Ala186=)
c.306C>A (p.Ala102=)
c.-361C>A (n.-361C>A)
 dbSNP
2g.96253968G>ACA347652369TMEM127c.557C>T (p.Ala186Val)
c.305C>T (p.Ala102Val)
c.-362C>T (n.-362C>T)
2g.96253968G>CCA347652371TMEM127c.557C>G (p.Ala186Gly)
c.305C>G (p.Ala102Gly)
c.-362C>G (n.-362C>G)
 gnomAD v4
2g.96253968G>TCA347652372TMEM127c.557C>A (p.Ala186Asp)
c.305C>A (p.Ala102Asp)
c.-362C>A (n.-362C>A)
2g.96253969C>ACA1777283TMEM127c.556G>T (p.Ala186Ser)
c.304G>T (p.Ala102Ser)
c.-363G>T (n.-363G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96253969C=CA1272522089TMEM127c.556G= (p.Ala186=)
c.304G= (p.Ala102=)
c.-363G= (n.-363G=)
2g.96253969C>GCA347652373TMEM127c.556G>C (p.Ala186Pro)
c.304G>C (p.Ala102Pro)
c.-363G>C (n.-363G>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.96253969C>TCA347652374TMEM127c.556G>A (p.Ala186Thr)
c.304G>A (p.Ala102Thr)
c.-363G>A (n.-363G>A)
 ClinVar
2g.96253970T>ACA427807988TMEM127c.555A>T (p.Gly185=)
c.303A>T (p.Gly101=)
c.-364A>T (n.-364A>T)
2g.96253970T>CCA427807989TMEM127c.555A>G (p.Gly185=)
c.303A>G (p.Gly101=)
c.-364A>G (n.-364A>G)
2g.96253970T>GCA427807991TMEM127c.555A>C (p.Gly185=)
c.303A>C (p.Gly101=)
c.-364A>C (n.-364A>C)
 ClinVar dbSNP gnomAD v4
2g.96253970_96253982dupCA2586964986TMEM127c.543_555dup (p.Ala186ArgfsTer?)
c.291_303dup (p.Ala102ArgfsTer?)
c.-376_-364dup (n.-376_-364dup)
2g.96253970_96253983delinsTCCACCAGCTCCTGCA1272522090TMEM127c.542_555delinsCAGGAGCTGGTGGA (p.Ala181=)
c.290_303delinsCAGGAGCTGGTGGA (p.Ala97=)
c.-377_-364delinsCAGGAGCTGGTGGA (n.-377_-364delinsCAGGAGCTGGTGGA)
2g.96253971C>ACA347652375TMEM127c.554G>T (p.Gly185Val)
c.302G>T (p.Gly101Val)
c.-365G>T (n.-365G>T)
2g.96253971C=CA1272522091TMEM127c.554G= (p.Gly185=)
c.302G= (p.Gly101=)
c.-365G= (n.-365G=)
2g.96253971C>GCA347652376TMEM127c.554G>C (p.Gly185Ala)
c.302G>C (p.Gly101Ala)
c.-365G>C (n.-365G>C)
2g.96253971C>TCA1777284TMEM127c.554G>A (p.Gly185Glu)
c.302G>A (p.Gly101Glu)
c.-365G>A (n.-365G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96253972_96253985delCA2586964987TMEM127c.541_554del (p.Ala181SerfsTer?)
c.289_302del (p.Ala97SerfsTer?)
c.-378_-365del (n.-378_-365del)
2g.96253978_96253990delCA1139655615TMEM127c.542_554del (p.Ala181GlufsTer?)
c.290_302del (p.Ala97GlufsTer?)
c.-377_-365del (n.-377_-365del)
 ClinVar dbSNP
2g.96253972C>ACA347652383TMEM127c.553G>T (p.Gly185Ter)
c.301G>T (p.Gly101Ter)
c.-366G>T (n.-366G>T)
 dbSNP
2g.96253972C=CA1272522092TMEM127c.553G= (p.Gly185=)
c.301G= (p.Gly101=)
c.-366G= (n.-366G=)
2g.96253972C>GCA347652381TMEM127c.553G>C (p.Gly185Arg)
c.301G>C (p.Gly101Arg)
c.-366G>C (n.-366G>C)
 dbSNP
2g.96253972C>TCA347652379TMEM127c.553G>A (p.Gly185Arg)
c.301G>A (p.Gly101Arg)
c.-366G>A (n.-366G>A)
 ClinVar dbSNP gnomAD v4
2g.96253973A=CA1272522093TMEM127c.552T= (p.Gly184=)
c.300T= (p.Gly100=)
c.-367T= (n.-367T=)
2g.96253973A>CCA427807993TMEM127c.552T>G (p.Gly184=)
c.300T>G (p.Gly100=)
c.-367T>G (n.-367T>G)
 dbSNP gnomAD v4
2g.96253973A>GCA427807996TMEM127c.552T>C (p.Gly184=)
c.300T>C (p.Gly100=)
c.-367T>C (n.-367T>C)
2g.96253973A>TCA427807994TMEM127c.552T>A (p.Gly184=)
c.300T>A (p.Gly100=)
c.-367T>A (n.-367T>A)
 ClinVar
2g.96253974C>ACA347652387TMEM127c.551G>T (p.Gly184Val)
c.299G>T (p.Gly100Val)
c.-368G>T (n.-368G>T)
 ClinVar dbSNP
2g.96253974C>GCA347652385TMEM127c.551G>C (p.Gly184Ala)
c.299G>C (p.Gly100Ala)
c.-368G>C (n.-368G>C)
 dbSNP
2g.96253974C>TCA347652386TMEM127c.551G>A (p.Gly184Asp)
c.299G>A (p.Gly100Asp)
c.-368G>A (n.-368G>A)
 dbSNP
2g.96253975delCA2700000764TMEM127c.551del (p.Gly184ValfsTer?)
c.299del (p.Gly100ValfsTer?)
c.-368del (n.-368del)
 dbSNP
2g.96253975C>ACA347652388TMEM127c.550G>T (p.Gly184Cys)
c.298G>T (p.Gly100Cys)
c.-369G>T (n.-369G>T)
2g.96253975C=CA1272522094TMEM127c.550G= (p.Gly184=)
c.298G= (p.Gly100=)
c.-369G= (n.-369G=)
2g.96253975C>GCA16611124TMEM127c.550G>C (p.Gly184Arg)
c.298G>C (p.Gly100Arg)
c.-369G>C (n.-369G>C)
 ClinVar dbSNP
2g.96253975C>TCA347652389TMEM127c.550G>A (p.Gly184Ser)
c.298G>A (p.Gly100Ser)
c.-369G>A (n.-369G>A)
 ClinVar dbSNP
2g.96253976A>CCA427808002TMEM127c.549T>G (p.Ala183=)
c.297T>G (p.Ala99=)
c.-370T>G (n.-370T>G)
2g.96253976A>GCA427808003TMEM127c.549T>C (p.Ala183=)
c.297T>C (p.Ala99=)
c.-370T>C (n.-370T>C)
 ClinVar
2g.96253976A>TCA427808004TMEM127c.549T>A (p.Ala183=)
c.297T>A (p.Ala99=)
c.-370T>A (n.-370T>A)
 dbSNP
2g.96253977G>ACA347652396TMEM127c.548C>T (p.Ala183Val)
c.296C>T (p.Ala99Val)
c.-371C>T (n.-371C>T)
 dbSNP
2g.96253977G>CCA347652394TMEM127c.548C>G (p.Ala183Gly)
c.296C>G (p.Ala99Gly)
c.-371C>G (n.-371C>G)
 dbSNP
2g.96253977G>TCA347652392TMEM127c.548C>A (p.Ala183Asp)
c.296C>A (p.Ala99Asp)
c.-371C>A (n.-371C>A)
2g.96253978C>ACA347652397TMEM127c.547G>T (p.Ala183Ser)
c.295G>T (p.Ala99Ser)
c.-372G>T (n.-372G>T)
 dbSNP
2g.96253978C>GCA347652399TMEM127c.547G>C (p.Ala183Pro)
c.295G>C (p.Ala99Pro)
c.-372G>C (n.-372G>C)
 dbSNP
2g.96253978C>TCA347652401TMEM127c.547G>A (p.Ala183Thr)
c.295G>A (p.Ala99Thr)
c.-372G>A (n.-372G>A)
 gnomAD v4
2g.96253979T>ACA427808009TMEM127c.546A>T (p.Gly182=)
c.294A>T (p.Gly98=)
c.-373A>T (n.-373A>T)
 dbSNP
2g.96253979T>CCA427808011TMEM127c.546A>G (p.Gly182=)
c.294A>G (p.Gly98=)
c.-373A>G (n.-373A>G)
 dbSNP
2g.96253979T>GCA427808012TMEM127c.546A>C (p.Gly182=)
c.294A>C (p.Gly98=)
c.-373A>C (n.-373A>C)
2g.96253979T=CA1272522095TMEM127c.546A= (p.Gly182=)
c.294A= (p.Gly98=)
c.-373A= (n.-373A=)
2g.96253980C>ACA347652404TMEM127c.545G>T (p.Gly182Val)
c.293G>T (p.Gly98Val)
c.-374G>T (n.-374G>T)
 dbSNP
2g.96253980C=CA1272522096TMEM127c.545G= (p.Gly182=)
c.293G= (p.Gly98=)
c.-374G= (n.-374G=)
2g.96253980C>GCA347652406TMEM127c.545G>C (p.Gly182Ala)
c.293G>C (p.Gly98Ala)
c.-374G>C (n.-374G>C)
 ClinVar dbSNP gnomAD v4
2g.96253980C>TCA1777285TMEM127c.545G>A (p.Gly182Glu)
c.293G>A (p.Gly98Glu)
c.-374G>A (n.-374G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96253981C>ACA347652412TMEM127c.544G>T (p.Gly182Ter)
c.292G>T (p.Gly98Ter)
c.-375G>T (n.-375G>T)
 dbSNP
2g.96253981C>GCA347652417TMEM127c.544G>C (p.Gly182Arg)
c.292G>C (p.Gly98Arg)
c.-375G>C (n.-375G>C)
2g.96253981C>TCA347652415TMEM127c.544G>A (p.Gly182Arg)
c.292G>A (p.Gly98Arg)
c.-375G>A (n.-375G>A)
 dbSNP COSMIC
2g.96253982T>ACA427808016TMEM127c.543A>T (p.Ala181=)
c.291A>T (p.Ala97=)
c.-376A>T (n.-376A>T)
 dbSNP
2g.96253982T>CCA427808017TMEM127c.543A>G (p.Ala181=)
c.291A>G (p.Ala97=)
c.-376A>G (n.-376A>G)
 ClinVar dbSNP
2g.96253982T>GCA427808018TMEM127c.543A>C (p.Ala181=)
c.291A>C (p.Ala97=)
c.-376A>C (n.-376A>C)
2g.96253983G>ACA347652418TMEM127c.542C>T (p.Ala181Val)
c.290C>T (p.Ala97Val)
c.-377C>T (n.-377C>T)
2g.96253983G>CCA347652421TMEM127c.542C>G (p.Ala181Gly)
c.290C>G (p.Ala97Gly)
c.-377C>G (n.-377C>G)
2g.96253983G>TCA347652422TMEM127c.542C>A (p.Ala181Glu)
c.290C>A (p.Ala97Glu)
c.-377C>A (n.-377C>A)
2g.96253984C>ACA347652424TMEM127c.541G>T (p.Ala181Ser)
c.289G>T (p.Ala97Ser)
c.-378G>T (n.-378G>T)
 dbSNP
2g.96253984C=CA1272522097TMEM127c.541G= (p.Ala181=)
c.289G= (p.Ala97=)
c.-378G= (n.-378G=)
2g.96253984C>GCA347652428TMEM127c.541G>C (p.Ala181Pro)
c.289G>C (p.Ala97Pro)
c.-378G>C (n.-378G>C)
 dbSNP
2g.96253984C>TCA347652430TMEM127c.541G>A (p.Ala181Thr)
c.289G>A (p.Ala97Thr)
c.-378G>A (n.-378G>A)
 dbSNP
2g.96253985dupCA2580611366TMEM127c.541dup (p.Ala181GlyfsTer?)
c.289dup (p.Ala97GlyfsTer?)
c.-378dup (n.-378dup)
 ClinVar
2g.96253985C>ACA427808022TMEM127c.540G>T (p.Val180=)
c.288G>T (p.Val96=)
c.-379G>T (n.-379G>T)
 dbSNP
2g.96253985C=CA1272522098TMEM127c.540G= (p.Val180=)
c.288G= (p.Val96=)
c.-379G= (n.-379G=)
2g.96253985C>GCA427808025TMEM127c.540G>C (p.Val180=)
c.288G>C (p.Val96=)
c.-379G>C (n.-379G>C)
2g.96253985C>TCA427808024TMEM127c.540G>A (p.Val180=)
c.288G>A (p.Val96=)
c.-379G>A (n.-379G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.96253986A>CCA347652451TMEM127c.539T>G (p.Val180Gly)
c.287T>G (p.Val96Gly)
c.-380T>G (n.-380T>G)
2g.96253986A>GCA347652454TMEM127c.539T>C (p.Val180Ala)
c.287T>C (p.Val96Ala)
c.-380T>C (n.-380T>C)
 ClinVar
2g.96253986A>TCA347652457TMEM127c.539T>A (p.Val180Glu)
c.287T>A (p.Val96Glu)
c.-380T>A (n.-380T>A)
 dbSNP
2g.96253986dupCA2580068316TMEM127c.539dup (p.Ala181GlyfsTer?)
c.287dup (p.Ala97GlyfsTer?)
c.-380dup (n.-380dup)
 ClinVar
2g.96253987C>ACA347652461TMEM127c.538G>T (p.Val180Leu)
c.286G>T (p.Val96Leu)
c.-381G>T (n.-381G>T)
 ClinVar dbSNP
2g.96253987C=CA1272522099TMEM127c.538G= (p.Val180=)
c.286G= (p.Val96=)
c.-381G= (n.-381G=)
2g.96253987C>GCA347652462TMEM127c.538G>C (p.Val180Leu)
c.286G>C (p.Val96Leu)
c.-381G>C (n.-381G>C)
 dbSNP
2g.96253987C>TCA1777286TMEM127c.538G>A (p.Val180Met)
c.286G>A (p.Val96Met)
c.-381G>A (n.-381G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96253988C>ACA427808029TMEM127c.537G>T (p.Leu179=)
c.285G>T (p.Leu95=)
c.-382G>T (n.-382G>T)
2g.96253988C=CA1272522100TMEM127c.537G= (p.Leu179=)
c.285G= (p.Leu95=)
c.-382G= (n.-382G=)
2g.96253988C>GCA427808030TMEM127c.537G>C (p.Leu179=)
c.285G>C (p.Leu95=)
c.-382G>C (n.-382G>C)
 dbSNP
2g.96253988C>TCA427808031TMEM127c.537G>A (p.Leu179=)
c.285G>A (p.Leu95=)
c.-382G>A (n.-382G>A)
2g.96253989A=CA1272522101TMEM127c.536T= (p.Leu179=)
c.284T= (p.Leu95=)
c.-383T= (n.-383T=)
2g.96253989A>CCA347652481TMEM127c.536T>G (p.Leu179Arg)
c.284T>G (p.Leu95Arg)
c.-383T>G (n.-383T>G)
2g.96253989A>GCA347652485TMEM127c.536T>C (p.Leu179Pro)
c.284T>C (p.Leu95Pro)
c.-383T>C (n.-383T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.96253989A>TCA347652478TMEM127c.536T>A (p.Leu179Gln)
c.284T>A (p.Leu95Gln)
c.-383T>A (n.-383T>A)
2g.96253990_96254064delCA2751311961TMEM127c.462_536del (p.Ile154_Leu179delinsMet)
c.210_284del (p.Ile70_Leu95delinsMet)
c.-457_-383del (n.-457_-383del)
2g.96253990G>ACA427808034TMEM127c.535C>T (p.Leu179=)
c.283C>T (p.Leu95=)
c.-384C>T (n.-384C>T)
 dbSNP gnomAD v4
2g.96253990G>CCA347652486TMEM127c.535C>G (p.Leu179Val)
c.283C>G (p.Leu95Val)
c.-384C>G (n.-384C>G)
 dbSNP
2g.96253990G>TCA347652488TMEM127c.535C>A (p.Leu179Met)
c.283C>A (p.Leu95Met)
c.-384C>A (n.-384C>A)
 dbSNP
2g.96253991G>ACA1777287TMEM127c.534C>T (p.Tyr178=)
c.282C>T (p.Tyr94=)
c.-385C>T (n.-385C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96253991G>CCA347652490TMEM127c.534C>G (p.Tyr178Ter)
c.282C>G (p.Tyr94Ter)
c.-385C>G (n.-385C>G)
 dbSNP
2g.96253991G=CA1272522102TMEM127c.534C= (p.Tyr178=)
c.282C= (p.Tyr94=)
c.-385C= (n.-385C=)
2g.96253991G>TCA347652492TMEM127c.534C>A (p.Tyr178Ter)
c.282C>A (p.Tyr94Ter)
c.-385C>A (n.-385C>A)
 gnomAD v4
2g.96253992T>ACA347652495TMEM127c.533A>T (p.Tyr178Phe)
c.281A>T (p.Tyr94Phe)
c.-386A>T (n.-386A>T)
2g.96253992T>CCA347652503TMEM127c.533A>G (p.Tyr178Cys)
c.281A>G (p.Tyr94Cys)
c.-386A>G (n.-386A>G)
 gnomAD v4
2g.96253992T>GCA347652505TMEM127c.533A>C (p.Tyr178Ser)
c.281A>C (p.Tyr94Ser)
c.-386A>C (n.-386A>C)
 dbSNP
2g.96253992T=CA1272522103TMEM127c.533A= (p.Tyr178=)
c.281A= (p.Tyr94=)
c.-386A= (n.-386A=)
2g.96253993delCA2660177237TMEM127c.532del (p.Tyr178ThrfsTer?)
c.280del (p.Tyr94ThrfsTer?)
c.-387del (n.-387del)
 gnomAD v4
2g.96253993A=CA1272522104TMEM127c.532T= (p.Tyr178=)
c.280T= (p.Tyr94=)
c.-387T= (n.-387T=)
2g.96253993A>CCA347652507TMEM127c.532T>G (p.Tyr178Asp)
c.280T>G (p.Tyr94Asp)
c.-387T>G (n.-387T>G)
2g.96253993A>GCA347652510TMEM127c.532T>C (p.Tyr178His)
c.280T>C (p.Tyr94His)
c.-387T>C (n.-387T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.96253993A>TCA347652513TMEM127c.532T>A (p.Tyr178Asn)
c.280T>A (p.Tyr94Asn)
c.-387T>A (n.-387T>A)
2g.96253993dupCA16617773TMEM127c.532dup (p.Tyr178LeufsTer?)
c.280dup (p.Tyr94LeufsTer?)
c.-387dup (n.-387dup)
 ClinVar dbSNP
2g.96253995_96254009dupCA2586964988TMEM127c.518_532dup (p.Phe177_Tyr178insPheAlaValSerPhe)
c.266_280dup (p.Phe93_Tyr94insPheAlaValSerPhe)
c.-401_-387dup (n.-401_-387dup)
2g.96253994G>ACA427808038TMEM127c.531C>T (p.Phe177=)
c.279C>T (p.Phe93=)
c.-388C>T (n.-388C>T)
 dbSNP COSMIC
2g.96253994G>CCA347652517TMEM127c.531C>G (p.Phe177Leu)
c.279C>G (p.Phe93Leu)
c.-388C>G (n.-388C>G)
 dbSNP
2g.96253994G>TCA347652519TMEM127c.531C>A (p.Phe177Leu)
c.279C>A (p.Phe93Leu)
c.-388C>A (n.-388C>A)
2g.96253994_96253995delinsGACA1272522105TMEM127c.530_531delinsTC (p.Phe177=)
c.278_279delinsTC (p.Phe93=)
c.-389_-388delinsTC (n.-389_-388delinsTC)
2g.96253995A>CCA347652522TMEM127c.530T>G (p.Phe177Cys)
c.278T>G (p.Phe93Cys)
c.-389T>G (n.-389T>G)
2g.96253995A>GCA347652520TMEM127c.530T>C (p.Phe177Ser)
c.278T>C (p.Phe93Ser)
c.-389T>C (n.-389T>C)
2g.96253995A>TCA347652521TMEM127c.530T>A (p.Phe177Tyr)
c.278T>A (p.Phe93Tyr)
c.-389T>A (n.-389T>A)
2g.96253996delCA916081310TMEM127c.530del (p.Phe177SerfsTer?)
c.278del (p.Phe93SerfsTer?)
c.-389del (n.-389del)
 ClinVar dbSNP
2g.96253996A>CCA347652523TMEM127c.529T>G (p.Phe177Val)
c.277T>G (p.Phe93Val)
c.-390T>G (n.-390T>G)
 ClinVar
2g.96253996A>GCA347652524TMEM127c.529T>C (p.Phe177Leu)
c.277T>C (p.Phe93Leu)
c.-390T>C (n.-390T>C)
 dbSNP
2g.96253996A>TCA347652526TMEM127c.529T>A (p.Phe177Ile)
c.277T>A (p.Phe93Ile)
c.-390T>A (n.-390T>A)
 dbSNP
2g.96253997G>ACA427808041TMEM127c.528C>T (p.Ser176=)
c.276C>T (p.Ser92=)
c.-391C>T (n.-391C>T)
 dbSNP
2g.96253997G>CCA347652527TMEM127c.528C>G (p.Ser176Arg)
c.276C>G (p.Ser92Arg)
c.-391C>G (n.-391C>G)
2g.96253997G=CA1272522106TMEM127c.528C= (p.Ser176=)
c.276C= (p.Ser92=)
c.-391C= (n.-391C=)
2g.96253997G>TCA347652528TMEM127c.528C>A (p.Ser176Arg)
c.276C>A (p.Ser92Arg)
c.-391C>A (n.-391C>A)
2g.96253997_96253998insGTGGCA2660177244TMEM127c.528_529insCACC (p.Phe177HisfsTer?)
c.276_277insCACC (p.Phe93HisfsTer?)
c.-391_-390insCACC (n.-391_-390insCACC)
 gnomAD v4
2g.96253998C>ACA347652530TMEM127c.527G>T (p.Ser176Ile)
c.275G>T (p.Ser92Ile)
c.-392G>T (n.-392G>T)
 ClinVar dbSNP
2g.96253998C>GCA347652532TMEM127c.527G>C (p.Ser176Thr)
c.275G>C (p.Ser92Thr)
c.-392G>C (n.-392G>C)
 dbSNP
2g.96253998C>TCA347652533TMEM127c.527G>A (p.Ser176Asn)
c.275G>A (p.Ser92Asn)
c.-392G>A (n.-392G>A)
2g.96253999T>ACA347652534TMEM127c.526A>T (p.Ser176Cys)
c.274A>T (p.Ser92Cys)
c.-393A>T (n.-393A>T)
 dbSNP
2g.96253999T>CCA347652535TMEM127c.526A>G (p.Ser176Gly)
c.274A>G (p.Ser92Gly)
c.-393A>G (n.-393A>G)
 ClinVar dbSNP
2g.96253999T>GCA347652542TMEM127c.526A>C (p.Ser176Arg)
c.274A>C (p.Ser92Arg)
c.-393A>C (n.-393A>C)
2g.96253999T=CA1272522107TMEM127c.526A= (p.Ser176=)
c.274A= (p.Ser92=)
c.-393A= (n.-393A=)
2g.96254000A>CCA427808046TMEM127c.525T>G (p.Val175=)
c.273T>G (p.Val91=)
c.-394T>G (n.-394T>G)
2g.96254000A>GCA427808047TMEM127c.525T>C (p.Val175=)
c.273T>C (p.Val91=)
c.-394T>C (n.-394T>C)
2g.96254000A>TCA427808048TMEM127c.525T>A (p.Val175=)
c.273T>A (p.Val91=)
c.-394T>A (n.-394T>A)
2g.96254001A>CCA347652547TMEM127c.524T>G (p.Val175Gly)
c.272T>G (p.Val91Gly)
c.-395T>G (n.-395T>G)
2g.96254001A>GCA347652548TMEM127c.524T>C (p.Val175Ala)
c.272T>C (p.Val91Ala)
c.-395T>C (n.-395T>C)
 dbSNP
2g.96254001A>TCA347652546TMEM127c.524T>A (p.Val175Asp)
c.272T>A (p.Val91Asp)
c.-395T>A (n.-395T>A)
 dbSNP
2g.96254002C>ACA347652551TMEM127c.523G>T (p.Val175Phe)
c.271G>T (p.Val91Phe)
c.-396G>T (n.-396G>T)
 ClinVar dbSNP
2g.96254002C=CA1272522108TMEM127c.523G= (p.Val175=)
c.271G= (p.Val91=)
c.-396G= (n.-396G=)
2g.96254002C>GCA347652553TMEM127c.523G>C (p.Val175Leu)
c.271G>C (p.Val91Leu)
c.-396G>C (n.-396G>C)
 ClinVar dbSNP
2g.96254002C>TCA1777288TMEM127c.523G>A (p.Val175Ile)
c.271G>A (p.Val91Ile)
c.-396G>A (n.-396G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.96254003G>ACA1777289TMEM127c.522C>T (p.Ala174=)
c.270C>T (p.Ala90=)
c.-397C>T (n.-397C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254003G>CCA52412053TMEM127c.522C>G (p.Ala174=)
c.270C>G (p.Ala90=)
c.-397C>G (n.-397C>G)
 dbSNP gnomAD v4
2g.96254003G=CA1272522109TMEM127c.522C= (p.Ala174=)
c.270C= (p.Ala90=)
c.-397C= (n.-397C=)
2g.96254003G>TCA427808053TMEM127c.522C>A (p.Ala174=)
c.270C>A (p.Ala90=)
c.-397C>A (n.-397C>A)
 dbSNP
2g.96254004G>ACA52412055TMEM127c.521C>T (p.Ala174Val)
c.269C>T (p.Ala90Val)
c.-398C>T (n.-398C>T)
 dbSNP COSMIC
2g.96254004G>CCA347652563TMEM127c.521C>G (p.Ala174Gly)
c.269C>G (p.Ala90Gly)
c.-398C>G (n.-398C>G)
 dbSNP
2g.96254004G=CA1272522110TMEM127c.521C= (p.Ala174=)
c.269C= (p.Ala90=)
c.-398C= (n.-398C=)
2g.96254004G>TCA347652561TMEM127c.521C>A (p.Ala174Asp)
c.269C>A (p.Ala90Asp)
c.-398C>A (n.-398C>A)
2g.96254005C>ACA347652568TMEM127c.520G>T (p.Ala174Ser)
c.268G>T (p.Ala90Ser)
c.-399G>T (n.-399G>T)
 dbSNP
2g.96254005C=CA1272522111TMEM127c.520G= (p.Ala174=)
c.268G= (p.Ala90=)
c.-399G= (n.-399G=)
2g.96254005C>GCA347652569TMEM127c.520G>C (p.Ala174Pro)
c.268G>C (p.Ala90Pro)
c.-399G>C (n.-399G>C)
 dbSNP
2g.96254005C>TCA1777290TMEM127c.520G>A (p.Ala174Thr)
c.268G>A (p.Ala90Thr)
c.-399G>A (n.-399G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254006G>ACA1777291TMEM127c.519C>T (p.Phe173=)
c.267C>T (p.Phe89=)
c.-400C>T (n.-400C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254006G>CCA347652572TMEM127c.519C>G (p.Phe173Leu)
c.267C>G (p.Phe89Leu)
c.-400C>G (n.-400C>G)
2g.96254006G=CA1272522112TMEM127c.519C= (p.Phe173=)
c.267C= (p.Phe89=)
c.-400C= (n.-400C=)
2g.96254006G>TCA347652573TMEM127c.519C>A (p.Phe173Leu)
c.267C>A (p.Phe89Leu)
c.-400C>A (n.-400C>A)
 ClinVar dbSNP gnomAD v4
2g.96254007A=CA1272522113TMEM127c.518T= (p.Phe173=)
c.266T= (p.Phe89=)
c.-401T= (n.-401T=)
2g.96254007A>CCA347652574TMEM127c.518T>G (p.Phe173Cys)
c.266T>G (p.Phe89Cys)
c.-401T>G (n.-401T>G)
 ClinVar dbSNP
2g.96254007A>GCA347652576TMEM127c.518T>C (p.Phe173Ser)
c.266T>C (p.Phe89Ser)
c.-401T>C (n.-401T>C)
2g.96254007A>TCA347652575TMEM127c.518T>A (p.Phe173Tyr)
c.266T>A (p.Phe89Tyr)
c.-401T>A (n.-401T>A)
2g.96254008delCA2700001553TMEM127c.518del (p.Phe173SerfsTer?)
c.266del (p.Phe89SerfsTer?)
c.-401del (n.-401del)
 dbSNP
2g.96254008A>CCA347652580TMEM127c.517T>G (p.Phe173Val)
c.265T>G (p.Phe89Val)
c.-402T>G (n.-402T>G)
2g.96254008A>GCA347652582TMEM127c.517T>C (p.Phe173Leu)
c.265T>C (p.Phe89Leu)
c.-402T>C (n.-402T>C)
2g.96254008A>TCA347652587TMEM127c.517T>A (p.Phe173Ile)
c.265T>A (p.Phe89Ile)
c.-402T>A (n.-402T>A)
2g.96254009G>ACA427808058TMEM127c.516C>T (p.Thr172=)
c.264C>T (p.Thr88=)
c.-403C>T (n.-403C>T)
 ClinVar dbSNP gnomAD v4
2g.96254009G>CCA427808059TMEM127c.516C>G (p.Thr172=)
c.264C>G (p.Thr88=)
c.-403C>G (n.-403C>G)
2g.96254009G>TCA427808060TMEM127c.516C>A (p.Thr172=)
c.264C>A (p.Thr88=)
c.-403C>A (n.-403C>A)
 dbSNP
2g.96254010G>ACA347652589TMEM127c.515C>T (p.Thr172Ile)
c.263C>T (p.Thr88Ile)
c.-404C>T (n.-404C>T)
 ClinVar dbSNP gnomAD v4
2g.96254010G>CCA347652591TMEM127c.515C>G (p.Thr172Ser)
c.263C>G (p.Thr88Ser)
c.-404C>G (n.-404C>G)
 dbSNP
2g.96254010G>TCA347652593TMEM127c.515C>A (p.Thr172Asn)
c.263C>A (p.Thr88Asn)
c.-404C>A (n.-404C>A)
2g.96254011T>ACA347652596TMEM127c.514A>T (p.Thr172Ser)
c.262A>T (p.Thr88Ser)
c.-405A>T (n.-405A>T)
 dbSNP
2g.96254011T>CCA347652599TMEM127c.514A>G (p.Thr172Ala)
c.262A>G (p.Thr88Ala)
c.-405A>G (n.-405A>G)
 dbSNP
2g.96254011T>GCA347652606TMEM127c.514A>C (p.Thr172Pro)
c.262A>C (p.Thr88Pro)
c.-405A>C (n.-405A>C)
 dbSNP
2g.96254011T=CA1272522114TMEM127c.514A= (p.Thr172=)
c.262A= (p.Thr88=)
c.-405A= (n.-405A=)
2g.96254012G>ACA427808064TMEM127c.513C>T (p.Val171=)
c.261C>T (p.Val87=)
c.-406C>T (n.-406C>T)
 dbSNP
2g.96254012G>CCA427808065TMEM127c.513C>G (p.Val171=)
c.261C>G (p.Val87=)
c.-406C>G (n.-406C>G)
 dbSNP
2g.96254012G>TCA427808066TMEM127c.513C>A (p.Val171=)
c.261C>A (p.Val87=)
c.-406C>A (n.-406C>A)
2g.96254012_96254013delinsGACA1272522115TMEM127c.512_513delinsTC (p.Val171=)
c.260_261delinsTC (p.Val87=)
c.-407_-406delinsTC (n.-407_-406delinsTC)
2g.96254013A=CA1272522116TMEM127c.512T= (p.Val171=)
c.260T= (p.Val87=)
c.-407T= (n.-407T=)
2g.96254013A>CCA347652612TMEM127c.512T>G (p.Val171Gly)
c.260T>G (p.Val87Gly)
c.-407T>G (n.-407T>G)
 dbSNP gnomAD v4
2g.96254013A>GCA347652614TMEM127c.512T>C (p.Val171Ala)
c.260T>C (p.Val87Ala)
c.-407T>C (n.-407T>C)
 dbSNP
2g.96254013A>TCA347652617TMEM127c.512T>A (p.Val171Asp)
c.260T>A (p.Val87Asp)
c.-407T>A (n.-407T>A)
 dbSNP
2g.96254013delinsGGCCA1139655616TMEM127c.512delinsGCC (p.Val171GlyfsTer?)
c.260delinsGCC (p.Val87GlyfsTer?)
c.-407delinsGCC (n.-407delinsGCC)
 ClinVar dbSNP
2g.96254014C>ACA347652622TMEM127c.511G>T (p.Val171Phe)
c.259G>T (p.Val87Phe)
c.-408G>T (n.-408G>T)
 dbSNP
2g.96254014C>GCA347652625TMEM127c.511G>C (p.Val171Leu)
c.259G>C (p.Val87Leu)
c.-408G>C (n.-408G>C)
 ClinVar dbSNP
2g.96254014C>TCA347652620TMEM127c.511G>A (p.Val171Ile)
c.259G>A (p.Val87Ile)
c.-408G>A (n.-408G>A)
2g.96254015A>CCA347652639TMEM127c.510T>G (p.Tyr170Ter)
c.258T>G (p.Tyr86Ter)
c.-409T>G (n.-409T>G)
2g.96254015A>GCA427808069TMEM127c.510T>C (p.Tyr170=)
c.258T>C (p.Tyr86=)
c.-409T>C (n.-409T>C)
 dbSNP
2g.96254015A>TCA347652641TMEM127c.510T>A (p.Tyr170Ter)
c.258T>A (p.Tyr86Ter)
c.-409T>A (n.-409T>A)
2g.96254016T>ACA347652645TMEM127c.509A>T (p.Tyr170Phe)
c.257A>T (p.Tyr86Phe)
c.-410A>T (n.-410A>T)
 dbSNP gnomAD v4
2g.96254016T>CCA347652649TMEM127c.509A>G (p.Tyr170Cys)
c.257A>G (p.Tyr86Cys)
c.-410A>G (n.-410A>G)
 ClinVar
2g.96254016T>GCA347652646TMEM127c.509A>C (p.Tyr170Ser)
c.257A>C (p.Tyr86Ser)
c.-410A>C (n.-410A>C)
2g.96254016_96254017insTTCA2660177279TMEM127c.509_510insAA (p.Tyr170Ter)
c.257_258insAA (p.Tyr86Ter)
c.-410_-409insAA (n.-410_-409insAA)
 gnomAD v4
2g.96254017A>CCA347652652TMEM127c.508T>G (p.Tyr170Asp)
c.256T>G (p.Tyr86Asp)
c.-411T>G (n.-411T>G)
2g.96254017A>GCA347652661TMEM127c.508T>C (p.Tyr170His)
c.256T>C (p.Tyr86His)
c.-411T>C (n.-411T>C)
 dbSNP
2g.96254017A>TCA347652655TMEM127c.508T>A (p.Tyr170Asn)
c.256T>A (p.Tyr86Asn)
c.-411T>A (n.-411T>A)
2g.96254018G>ACA427808071TMEM127c.507C>T (p.Val169=)
c.255C>T (p.Val85=)
c.-412C>T (n.-412C>T)
 dbSNP
2g.96254018G>CCA427808072TMEM127c.507C>G (p.Val169=)
c.255C>G (p.Val85=)
c.-412C>G (n.-412C>G)
 ClinVar dbSNP
2g.96254018G=CA1272522117TMEM127c.507C= (p.Val169=)
c.255C= (p.Val85=)
c.-412C= (n.-412C=)
2g.96254018G>TCA427808074TMEM127c.507C>A (p.Val169=)
c.255C>A (p.Val85=)
c.-412C>A (n.-412C>A)
 ClinVar dbSNP
2g.96254019A=CA1272522118TMEM127c.506T= (p.Val169=)
c.254T= (p.Val85=)
c.-413T= (n.-413T=)
2g.96254019A>CCA347652663TMEM127c.506T>G (p.Val169Gly)
c.254T>G (p.Val85Gly)
c.-413T>G (n.-413T>G)
 dbSNP gnomAD v4
2g.96254019A>GCA347652665TMEM127c.506T>C (p.Val169Ala)
c.254T>C (p.Val85Ala)
c.-413T>C (n.-413T>C)
2g.96254019A>TCA347652667TMEM127c.506T>A (p.Val169Asp)
c.254T>A (p.Val85Asp)
c.-413T>A (n.-413T>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.96254020C>ACA347652670TMEM127c.505G>T (p.Val169Phe)
c.253G>T (p.Val85Phe)
c.-414G>T (n.-414G>T)
 dbSNP
2g.96254020C=CA1272522119TMEM127c.505G= (p.Val169=)
c.253G= (p.Val85=)
c.-414G= (n.-414G=)
2g.96254020C>GCA1777292TMEM127c.505G>C (p.Val169Leu)
c.253G>C (p.Val85Leu)
c.-414G>C (n.-414G>C)
 dbSNP ExAC gnomAD v2
2g.96254020C>TCA347652674TMEM127c.505G>A (p.Val169Ile)
c.253G>A (p.Val85Ile)
c.-414G>A (n.-414G>A)
2g.96254021C>ACA347652676TMEM127c.504G>T (p.Gln168His)
c.252G>T (p.Gln84His)
c.-415G>T (n.-415G>T)
 dbSNP
2g.96254021C>GCA347652679TMEM127c.504G>C (p.Gln168His)
c.252G>C (p.Gln84His)
c.-415G>C (n.-415G>C)
 ClinVar
2g.96254021C>TCA427808075TMEM127c.504G>A (p.Gln168=)
c.252G>A (p.Gln84=)
c.-415G>A (n.-415G>A)
2g.96254022T>ACA347652685TMEM127c.503A>T (p.Gln168Leu)
c.251A>T (p.Gln84Leu)
c.-416A>T (n.-416A>T)
 dbSNP
2g.96254022T>CCA347652687TMEM127c.503A>G (p.Gln168Arg)
c.251A>G (p.Gln84Arg)
c.-416A>G (n.-416A>G)
 dbSNP
2g.96254022T>GCA347652690TMEM127c.503A>C (p.Gln168Pro)
c.251A>C (p.Gln84Pro)
c.-416A>C (n.-416A>C)
2g.96254023G>ACA347652696TMEM127c.502C>T (p.Gln168Ter)
c.250C>T (p.Gln84Ter)
c.-417C>T (n.-417C>T)
 dbSNP
2g.96254023G>CCA347652695TMEM127c.502C>G (p.Gln168Glu)
c.250C>G (p.Gln84Glu)
c.-417C>G (n.-417C>G)
2g.96254023G=CA1272522120TMEM127c.502C= (p.Gln168=)
c.250C= (p.Gln84=)
c.-417C= (n.-417C=)
2g.96254023G>TCA347652692TMEM127c.502C>A (p.Gln168Lys)
c.250C>A (p.Gln84Lys)
c.-417C>A (n.-417C>A)
 dbSNP
2g.96254024G>ACA427808077TMEM127c.501C>T (p.Ser167=)
c.249C>T (p.Ser83=)
c.-418C>T (n.-418C>T)
 ClinVar dbSNP gnomAD v4
2g.96254024G>CCA427808078TMEM127c.501C>G (p.Ser167=)
c.249C>G (p.Ser83=)
c.-418C>G (n.-418C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.96254024G=CA1272522121TMEM127c.501C= (p.Ser167=)
c.249C= (p.Ser83=)
c.-418C= (n.-418C=)
2g.96254024G>TCA427808079TMEM127c.501C>A (p.Ser167=)
c.249C>A (p.Ser83=)
c.-418C>A (n.-418C>A)
2g.96254025G>ACA52412069TMEM127c.500C>T (p.Ser167Phe)
c.248C>T (p.Ser83Phe)
c.-419C>T (n.-419C>T)
 ClinVar dbSNP gnomAD v4
2g.96254025G>CCA347652701TMEM127c.500C>G (p.Ser167Cys)
c.248C>G (p.Ser83Cys)
c.-419C>G (n.-419C>G)
2g.96254025G=CA1272522122TMEM127c.500C= (p.Ser167=)
c.248C= (p.Ser83=)
c.-419C= (n.-419C=)
2g.96254025G>TCA347652704TMEM127c.500C>A (p.Ser167Tyr)
c.248C>A (p.Ser83Tyr)
c.-419C>A (n.-419C>A)
 dbSNP
2g.96254026A>CCA347652706TMEM127c.499T>G (p.Ser167Ala)
c.247T>G (p.Ser83Ala)
c.-420T>G (n.-420T>G)
 dbSNP
2g.96254026A>GCA347652707TMEM127c.499T>C (p.Ser167Pro)
c.247T>C (p.Ser83Pro)
c.-420T>C (n.-420T>C)
2g.96254026A>TCA347652709TMEM127c.499T>A (p.Ser167Thr)
c.247T>A (p.Ser83Thr)
c.-420T>A (n.-420T>A)
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)
2g.96254040T>CCA1777296TMEM127c.485A>G (p.Lys162Arg)
c.233A>G (p.Lys78Arg)
c.-434A>G (n.-434A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254040T>GCA347652790TMEM127c.485A>C (p.Lys162Thr)
c.233A>C (p.Lys78Thr)
c.-434A>C (n.-434A>C)
2g.96254040T=CA1272522129TMEM127c.485A= (p.Lys162=)
c.233A= (p.Lys78=)
c.-434A= (n.-434A=)
2g.96254041T>ACA347652797TMEM127c.484A>T (p.Lys162Ter)
c.232A>T (p.Lys78Ter)
c.-435A>T (n.-435A>T)
 dbSNP
2g.96254041T>CCA347652798TMEM127c.484A>G (p.Lys162Glu)
c.232A>G (p.Lys78Glu)
c.-435A>G (n.-435A>G)
 dbSNP
2g.96254041T>GCA347652801TMEM127c.484A>C (p.Lys162Gln)
c.232A>C (p.Lys78Gln)
c.-435A>C (n.-435A>C)
 ClinVar dbSNP
2g.96254041T=CA1272522130TMEM127c.484A= (p.Lys162=)
c.232A= (p.Lys78=)
c.-435A= (n.-435A=)
2g.96254042A>CCA347652807TMEM127c.483T>G (p.His161Gln)
c.231T>G (p.His77Gln)
c.-436T>G (n.-436T>G)
2g.96254042A>GCA427808094TMEM127c.483T>C (p.His161=)
c.231T>C (p.His77=)
c.-436T>C (n.-436T>C)
2g.96254042A>TCA347652808TMEM127c.483T>A (p.His161Gln)
c.231T>A (p.His77Gln)
c.-436T>A (n.-436T>A)
2g.96254042_96254045delinsATGCCA1272522131TMEM127c.480_483delinsGCAT (p.Gln160=)
c.228_231delinsGCAT (p.Gln76=)
c.-439_-436delinsGCAT (n.-439_-436delinsGCAT)
2g.96254043T>ACA347652816TMEM127c.482A>T (p.His161Leu)
c.230A>T (p.His77Leu)
c.-437A>T (n.-437A>T)
2g.96254043T>CCA52412084TMEM127c.482A>G (p.His161Arg)
c.230A>G (p.His77Arg)
c.-437A>G (n.-437A>G)
 ClinVar dbSNP gnomAD v4
2g.96254043T>GCA347652811TMEM127c.482A>C (p.His161Pro)
c.230A>C (p.His77Pro)
c.-437A>C (n.-437A>C)
2g.96254043T=CA1272522132TMEM127c.482A= (p.His161=)
c.230A= (p.His77=)
c.-437A= (n.-437A=)
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.96254044G>ACA347652819TMEM127c.481C>T (p.His161Tyr)
c.229C>T (p.His77Tyr)
c.-438C>T (n.-438C>T)
 dbSNP
2g.96254044G>CCA347652821TMEM127c.481C>G (p.His161Asp)
c.229C>G (p.His77Asp)
c.-438C>G (n.-438C>G)
 dbSNP
2g.96254044G>TCA347652824TMEM127c.481C>A (p.His161Asn)
c.229C>A (p.His77Asn)
c.-438C>A (n.-438C>A)
2g.96254045C>ACA347652826TMEM127c.480G>T (p.Gln160His)
c.228G>T (p.Gln76His)
c.-439G>T (n.-439G>T)
2g.96254045C>GCA347652828TMEM127c.480G>C (p.Gln160His)
c.228G>C (p.Gln76His)
c.-439G>C (n.-439G>C)
2g.96254045C>TCA427808097TMEM127c.480G>A (p.Gln160=)
c.228G>A (p.Gln76=)
c.-439G>A (n.-439G>A)
 gnomAD v4
2g.96254046T>ACA347652836TMEM127c.479A>T (p.Gln160Leu)
c.227A>T (p.Gln76Leu)
c.-440A>T (n.-440A>T)
2g.96254046T>CCA347652830TMEM127c.479A>G (p.Gln160Arg)
c.227A>G (p.Gln76Arg)
c.-440A>G (n.-440A>G)
2g.96254046T>GCA347652833TMEM127c.479A>C (p.Gln160Pro)
c.227A>C (p.Gln76Pro)
c.-440A>C (n.-440A>C)
2g.96254047G>ACA347652838TMEM127c.478C>T (p.Gln160Ter)
c.226C>T (p.Gln76Ter)
c.-441C>T (n.-441C>T)
 ClinVar dbSNP
2g.96254047G>CCA347652840TMEM127c.478C>G (p.Gln160Glu)
c.226C>G (p.Gln76Glu)
c.-441C>G (n.-441C>G)
 dbSNP
2g.96254047G=CA1272522133TMEM127c.478C= (p.Gln160=)
c.226C= (p.Gln76=)
c.-441C= (n.-441C=)
2g.96254047G>TCA347652842TMEM127c.478C>A (p.Gln160Lys)
c.226C>A (p.Gln76Lys)
c.-441C>A (n.-441C>A)
2g.96254048C>ACA347652843TMEM127c.477G>T (p.Gln159His)
c.225G>T (p.Gln75His)
c.-442G>T (n.-442G>T)
2g.96254048C>GCA347652845TMEM127c.477G>C (p.Gln159His)
c.225G>C (p.Gln75His)
c.-442G>C (n.-442G>C)
2g.96254048C>TCA427808099TMEM127c.477G>A (p.Gln159=)
c.225G>A (p.Gln75=)
c.-442G>A (n.-442G>A)
 dbSNP
2g.96254049T>ACA347652846TMEM127c.476A>T (p.Gln159Leu)
c.224A>T (p.Gln75Leu)
c.-443A>T (n.-443A>T)
2g.96254049T>CCA347652849TMEM127c.476A>G (p.Gln159Arg)
c.224A>G (p.Gln75Arg)
c.-443A>G (n.-443A>G)
 COSMIC
2g.96254049T>GCA347652852TMEM127c.476A>C (p.Gln159Pro)
c.224A>C (p.Gln75Pro)
c.-443A>C (n.-443A>C)
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=)

Number of alleles fetched