Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.96253903_96254383delCA2573135942TMEM127c.410-265_625del
c.158-265_373del
c.-509-265_-294del
 ClinVar dbSNP
2g.96253950G>ACA347652270TMEM127c.575C>T (p.Ala192Val)
c.323C>T (p.Ala108Val)
c.-344C>T (n.-344C>T)
 ClinVar dbSNP
2g.96253950G>CCA347652268TMEM127c.575C>G (p.Ala192Gly)
c.323C>G (p.Ala108Gly)
c.-344C>G (n.-344C>G)
 dbSNP
2g.96253950G>TCA347652265TMEM127c.575C>A (p.Ala192Glu)
c.323C>A (p.Ala108Glu)
c.-344C>A (n.-344C>A)
 dbSNP
2g.96253951C>ACA347652271TMEM127c.574G>T (p.Ala192Ser)
c.322G>T (p.Ala108Ser)
c.-345G>T (n.-345G>T)
 ClinVar dbSNP
2g.96253951C>GCA347652275TMEM127c.574G>C (p.Ala192Pro)
c.322G>C (p.Ala108Pro)
c.-345G>C (n.-345G>C)
 dbSNP
2g.96253951C>TCA347652284TMEM127c.574G>A (p.Ala192Thr)
c.322G>A (p.Ala108Thr)
c.-345G>A (n.-345G>A)
 dbSNP gnomAD v4
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)

Number of alleles fetched