Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
 ClinVar
2g.96254908G>ACA1777348TMEM127c.334C>T (p.Leu112Phe)
c.82C>T (p.Leu28Phe)
c.-585C>T (n.-585C>T)
 ClinVar 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.96254923delCA2825001172TMEM127c.319del (p.Ser107ValfsTer17)
c.67del (p.Ser23ValfsTer17)
c.-600del (n.-600del)
 ClinVar
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)
 ClinVar 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)
2g.96254947A>CCA347653546TMEM127c.295T>G (p.Phe99Val)
c.43T>G (p.Phe15Val)
c.-624T>G (n.-624T>G)
2g.96254947A>GCA347653547TMEM127c.295T>C (p.Phe99Leu)
c.43T>C (p.Phe15Leu)
c.-624T>C (n.-624T>C)
2g.96254947A>TCA347653548TMEM127c.295T>A (p.Phe99Ile)
c.43T>A (p.Phe15Ile)
c.-624T>A (n.-624T>A)
2g.96254948G>ACA427495547TMEM127c.294C>T (p.Ala98=)
c.42C>T (p.Ala14=)
c.-625C>T (n.-625C>T)
 ClinVar dbSNP
2g.96254948G>CCA427495546TMEM127c.294C>G (p.Ala98=)
c.42C>G (p.Ala14=)
c.-625C>G (n.-625C>G)
 dbSNP
2g.96254948G=CA1272522543TMEM127c.294C= (p.Ala98=)
c.42C= (p.Ala14=)
c.-625C= (n.-625C=)
2g.96254948G>TCA427495543TMEM127c.294C>A (p.Ala98=)
c.42C>A (p.Ala14=)
c.-625C>A (n.-625C>A)
2g.96254949G>ACA347653549TMEM127c.293C>T (p.Ala98Val)
c.41C>T (p.Ala14Val)
c.-626C>T (n.-626C>T)
2g.96254949G>CCA347653550TMEM127c.293C>G (p.Ala98Gly)
c.41C>G (p.Ala14Gly)
c.-626C>G (n.-626C>G)
2g.96254949G=CA1272522544TMEM127c.293C= (p.Ala98=)
c.41C= (p.Ala14=)
c.-626C= (n.-626C=)
2g.96254949G>TCA347653552TMEM127c.293C>A (p.Ala98Asp)
c.41C>A (p.Ala14Asp)
c.-626C>A (n.-626C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.96254950C>ACA347653554TMEM127c.292G>T (p.Ala98Ser)
c.40G>T (p.Ala14Ser)
c.-627G>T (n.-627G>T)
2g.96254950C=CA1272522545TMEM127c.292G= (p.Ala98=)
c.40G= (p.Ala14=)
c.-627G= (n.-627G=)
2g.96254950C>GCA347653555TMEM127c.292G>C (p.Ala98Pro)
c.40G>C (p.Ala14Pro)
c.-627G>C (n.-627G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96254950C>TCA1777354TMEM127c.292G>A (p.Ala98Thr)
c.40G>A (p.Ala14Thr)
c.-627G>A (n.-627G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254951G>ACA52413062TMEM127c.291C>T (p.Ala97=)
c.39C>T (p.Ala13=)
c.-628C>T (n.-628C>T)
 ClinVar dbSNP gnomAD v4
2g.96254951G>CCA1777355TMEM127c.291C>G (p.Ala97=)
c.39C>G (p.Ala13=)
c.-628C>G (n.-628C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254951G=CA1272522546TMEM127c.291C= (p.Ala97=)
c.39C= (p.Ala13=)
c.-628C= (n.-628C=)
2g.96254951G>TCA427495552TMEM127c.291C>A (p.Ala97=)
c.39C>A (p.Ala13=)
c.-628C>A (n.-628C>A)
2g.96254952delCA2573135956TMEM127c.291del (p.Ala98ProfsTer26)
c.39del (p.Ala14ProfsTer26)
c.-628del (n.-628del)
 ClinVar dbSNP
2g.96254952G>ACA52413079TMEM127c.290C>T (p.Ala97Val)
c.38C>T (p.Ala13Val)
c.-629C>T (n.-629C>T)
 ClinVar dbSNP
2g.96254952G>CCA347653558TMEM127c.290C>G (p.Ala97Gly)
c.38C>G (p.Ala13Gly)
c.-629C>G (n.-629C>G)
2g.96254952G=CA1272522547TMEM127c.290C= (p.Ala97=)
c.38C= (p.Ala13=)
c.-629C= (n.-629C=)
2g.96254952G>TCA347653560TMEM127c.290C>A (p.Ala97Asp)
c.38C>A (p.Ala13Asp)
c.-629C>A (n.-629C>A)
2g.96254953C>ACA347653562TMEM127c.289G>T (p.Ala97Ser)
c.37G>T (p.Ala13Ser)
c.-630G>T (n.-630G>T)
2g.96254953C=CA1272522548TMEM127c.289G= (p.Ala97=)
c.37G= (p.Ala13=)
c.-630G= (n.-630G=)
2g.96254953C>GCA347653564TMEM127c.289G>C (p.Ala97Pro)
c.37G>C (p.Ala13Pro)
c.-630G>C (n.-630G>C)
 dbSNP
2g.96254953C>TCA1777356TMEM127c.289G>A (p.Ala97Thr)
c.37G>A (p.Ala13Thr)
c.-630G>A (n.-630G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254954G>ACA190300TMEM127c.288C>T (p.Ile96=)
c.36C>T (p.Ile12=)
c.-631C>T (n.-631C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254954G>CCA1777357TMEM127c.288C>G (p.Ile96Met)
c.36C>G (p.Ile12Met)
c.-631C>G (n.-631C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254954G=CA1272522549TMEM127c.288C= (p.Ile96=)
c.36C= (p.Ile12=)
c.-631C= (n.-631C=)
2g.96254954G>TCA427495561TMEM127c.288C>A (p.Ile96=)
c.36C>A (p.Ile12=)
c.-631C>A (n.-631C>A)
 dbSNP
2g.96254955_96254965delCA2580068335TMEM127c.278_288del (p.Leu93ArgfsTer11)
c.26_36del (p.Leu9ArgfsTer11)
c.-641_-631del (n.-641_-631del)
 ClinVar
2g.96254955A>CCA347653566TMEM127c.287T>G (p.Ile96Ser)
c.35T>G (p.Ile12Ser)
c.-632T>G (n.-632T>G)
2g.96254955A>GCA347653568TMEM127c.287T>C (p.Ile96Thr)
c.35T>C (p.Ile12Thr)
c.-632T>C (n.-632T>C)
 gnomAD v4
2g.96254955A>TCA347653569TMEM127c.287T>A (p.Ile96Asn)
c.35T>A (p.Ile12Asn)
c.-632T>A (n.-632T>A)
2g.96254956T>ACA347653570TMEM127c.286A>T (p.Ile96Phe)
c.34A>T (p.Ile12Phe)
c.-633A>T (n.-633A>T)
 dbSNP
2g.96254956T>CCA347653571TMEM127c.286A>G (p.Ile96Val)
c.34A>G (p.Ile12Val)
c.-633A>G (n.-633A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.96254956T>GCA347653572TMEM127c.286A>C (p.Ile96Leu)
c.34A>C (p.Ile12Leu)
c.-633A>C (n.-633A>C)
 ClinVar
2g.96254956T=CA1272522550TMEM127c.286A= (p.Ile96=)
c.34A= (p.Ile12=)
c.-633A= (n.-633A=)
2g.96254957G>ACA427495567TMEM127c.285C>T (p.Val95=)
c.33C>T (p.Val11=)
c.-634C>T (n.-634C>T)
2g.96254957G>CCA427495569TMEM127c.285C>G (p.Val95=)
c.33C>G (p.Val11=)
c.-634C>G (n.-634C>G)
2g.96254957G>TCA427495570TMEM127c.285C>A (p.Val95=)
c.33C>A (p.Val11=)
c.-634C>A (n.-634C>A)
2g.96254958A>CCA347653574TMEM127c.284T>G (p.Val95Gly)
c.32T>G (p.Val11Gly)
c.-635T>G (n.-635T>G)
2g.96254958A>GCA347653577TMEM127c.284T>C (p.Val95Ala)
c.32T>C (p.Val11Ala)
c.-635T>C (n.-635T>C)
2g.96254958A>TCA347653576TMEM127c.284T>A (p.Val95Asp)
c.32T>A (p.Val11Asp)
c.-635T>A (n.-635T>A)
 dbSNP
2g.96254958_96254959delinsACCA1272522551TMEM127c.283_284delinsGT (p.Val95=)
c.31_32delinsGT (p.Val11=)
c.-636_-635delinsGT (n.-636_-635delinsGT)
2g.96254959C>ACA347653579TMEM127c.283G>T (p.Val95Phe)
c.31G>T (p.Val11Phe)
c.-636G>T (n.-636G>T)
 gnomAD v4
2g.96254959C>GCA347653580TMEM127c.283G>C (p.Val95Leu)
c.31G>C (p.Val11Leu)
c.-636G>C (n.-636G>C)
2g.96254959C>TCA347653581TMEM127c.283G>A (p.Val95Ile)
c.31G>A (p.Val11Ile)
c.-636G>A (n.-636G>A)
 ClinVar dbSNP
2g.96254961delCA658657048TMEM127c.283del (p.Val95SerfsTer29)
c.31del (p.Val11SerfsTer29)
c.-636del (n.-636del)
 ClinVar dbSNP
2g.96254960C>ACA427495577TMEM127c.282G>T (p.Arg94=)
c.30G>T (p.Arg10=)
c.-637G>T (n.-637G>T)
 ClinVar
2g.96254960C>GCA427495578TMEM127c.282G>C (p.Arg94=)
c.30G>C (p.Arg10=)
c.-637G>C (n.-637G>C)
2g.96254960C>TCA427495579TMEM127c.282G>A (p.Arg94=)
c.30G>A (p.Arg10=)
c.-637G>A (n.-637G>A)
2g.96254961C>ACA347653584TMEM127c.281G>T (p.Arg94Leu)
c.29G>T (p.Arg10Leu)
c.-638G>T (n.-638G>T)
 ClinVar dbSNP
2g.96254961C=CA1272522552TMEM127c.281G= (p.Arg94=)
c.29G= (p.Arg10=)
c.-638G= (n.-638G=)
2g.96254961C>GCA347653585TMEM127c.281G>C (p.Arg94Pro)
c.29G>C (p.Arg10Pro)
c.-638G>C (n.-638G>C)
2g.96254961C>TCA1777358TMEM127c.281G>A (p.Arg94Gln)
c.29G>A (p.Arg10Gln)
c.-638G>A (n.-638G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.96254962G>ACA269747TMEM127c.280C>T (p.Arg94Trp)
c.28C>T (p.Arg10Trp)
c.-639C>T (n.-639C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254962G>CCA1777359TMEM127c.280C>G (p.Arg94Gly)
c.28C>G (p.Arg10Gly)
c.-639C>G (n.-639C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96254962G=CA1272522553TMEM127c.280C= (p.Arg94=)
c.28C= (p.Arg10=)
c.-639C= (n.-639C=)
2g.96254962G>TCA16611131TMEM127c.280C>A (p.Arg94=)
c.28C>A (p.Arg10=)
c.-639C>A (n.-639C>A)
 ClinVar dbSNP gnomAD v4
2g.96254963C>ACA427495584TMEM127c.279G>T (p.Leu93=)
c.27G>T (p.Leu9=)
c.-640G>T (n.-640G>T)
2g.96254963C=CA1272522554TMEM127c.279G= (p.Leu93=)
c.27G= (p.Leu9=)
c.-640G= (n.-640G=)
2g.96254963C>GCA427495586TMEM127c.279G>C (p.Leu93=)
c.27G>C (p.Leu9=)
c.-640G>C (n.-640G>C)
2g.96254963C>TCA1777360TMEM127c.279G>A (p.Leu93=)
c.27G>A (p.Leu9=)
c.-640G>A (n.-640G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96254964A>CCA347653589TMEM127c.278T>G (p.Leu93Arg)
c.26T>G (p.Leu9Arg)
c.-641T>G (n.-641T>G)
 ClinVar
2g.96254964A>GCA347653590TMEM127c.278T>C (p.Leu93Pro)
c.26T>C (p.Leu9Pro)
c.-641T>C (n.-641T>C)
 ClinVar gnomAD v4
2g.96254964A>TCA347653591TMEM127c.278T>A (p.Leu93Gln)
c.26T>A (p.Leu9Gln)
c.-641T>A (n.-641T>A)
2g.96254965G>ACA427495588TMEM127c.277C>T (p.Leu93=)
c.25C>T (p.Leu9=)
c.-642C>T (n.-642C>T)
2g.96254965G>CCA347653592TMEM127c.277C>G (p.Leu93Val)
c.25C>G (p.Leu9Val)
c.-642C>G (n.-642C>G)
2g.96254965G>TCA347653594TMEM127c.277C>A (p.Leu93Met)
c.25C>A (p.Leu9Met)
c.-642C>A (n.-642C>A)
2g.96254966G>ACA1777361TMEM127c.276C>T (p.Leu92=)
c.24C>T (p.Leu8=)
c.-643C>T (n.-643C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254966G>CCA427495593TMEM127c.276C>G (p.Leu92=)
c.24C>G (p.Leu8=)
c.-643C>G (n.-643C>G)
 ClinVar dbSNP
2g.96254966G=CA1272522555TMEM127c.276C= (p.Leu92=)
c.24C= (p.Leu8=)
c.-643C= (n.-643C=)
2g.96254966G>TCA427495595TMEM127c.276C>A (p.Leu92=)
c.24C>A (p.Leu8=)
c.-643C>A (n.-643C>A)
2g.96254967A>CCA347653596TMEM127c.275T>G (p.Leu92Arg)
c.23T>G (p.Leu8Arg)
c.-644T>G (n.-644T>G)
2g.96254967A>GCA347653597TMEM127c.275T>C (p.Leu92Pro)
c.23T>C (p.Leu8Pro)
c.-644T>C (n.-644T>C)
 gnomAD v4
2g.96254967A>TCA347653599TMEM127c.275T>A (p.Leu92His)
c.23T>A (p.Leu8His)
c.-644T>A (n.-644T>A)
2g.96254968G>ACA347653602TMEM127c.274C>T (p.Leu92Phe)
c.22C>T (p.Leu8Phe)
c.-645C>T (n.-645C>T)
 ClinVar
2g.96254968G>CCA347653603TMEM127c.274C>G (p.Leu92Val)
c.22C>G (p.Leu8Val)
c.-645C>G (n.-645C>G)
 COSMIC
2g.96254968G>TCA347653604TMEM127c.274C>A (p.Leu92Ile)
c.22C>A (p.Leu8Ile)
c.-645C>A (n.-645C>A)
2g.96254969C>ACA427495604TMEM127c.273G>T (p.Leu91=)
c.21G>T (p.Leu7=)
c.-646G>T (n.-646G>T)
2g.96254969C>GCA427495603TMEM127c.273G>C (p.Leu91=)
c.21G>C (p.Leu7=)
c.-646G>C (n.-646G>C)
 dbSNP
2g.96254969C>TCA427495602TMEM127c.273G>A (p.Leu91=)
c.21G>A (p.Leu7=)
c.-646G>A (n.-646G>A)
 dbSNP
2g.96254970A=CA1272522556TMEM127c.272T= (p.Leu91=)
c.20T= (p.Leu7=)
c.-647T= (n.-647T=)
2g.96254970A>CCA347653606TMEM127c.272T>G (p.Leu91Arg)
c.20T>G (p.Leu7Arg)
c.-647T>G (n.-647T>G)
2g.96254970A>GCA347653608TMEM127c.272T>C (p.Leu91Pro)
c.20T>C (p.Leu7Pro)
c.-647T>C (n.-647T>C)
 gnomAD v4
2g.96254970A>TCA1777362TMEM127c.272T>A (p.Leu91Gln)
c.20T>A (p.Leu7Gln)
c.-647T>A (n.-647T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96254971G>ACA427495610TMEM127c.271C>T (p.Leu91=)
c.19C>T (p.Leu7=)
c.-648C>T (n.-648C>T)
 ClinVar dbSNP gnomAD v4
2g.96254971G>CCA347653610TMEM127c.271C>G (p.Leu91Val)
c.19C>G (p.Leu7Val)
c.-648C>G (n.-648C>G)
2g.96254971G=CA1272522557TMEM127c.271C= (p.Leu91=)
c.19C= (p.Leu7=)
c.-648C= (n.-648C=)
2g.96254971G>TCA347653612TMEM127c.271C>A (p.Leu91Met)
c.19C>A (p.Leu7Met)
c.-648C>A (n.-648C>A)
 ClinVar dbSNP
2g.96254972C>ACA1777363TMEM127c.270G>T (p.Val90=)
c.18G>T (p.Val6=)
c.-649G>T (n.-649G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254972C=CA1272522558TMEM127c.270G= (p.Val90=)
c.18G= (p.Val6=)
c.-649G= (n.-649G=)
2g.96254972C>GCA427495617TMEM127c.270G>C (p.Val90=)
c.18G>C (p.Val6=)
c.-649G>C (n.-649G>C)
2g.96254972C>TCA427495618TMEM127c.270G>A (p.Val90=)
c.18G>A (p.Val6=)
c.-649G>A (n.-649G>A)
 ClinVar dbSNP
2g.96254973A>CCA347653617TMEM127c.269T>G (p.Val90Gly)
c.17T>G (p.Val6Gly)
c.-650T>G (n.-650T>G)
2g.96254973A>GCA347653615TMEM127c.269T>C (p.Val90Ala)
c.17T>C (p.Val6Ala)
c.-650T>C (n.-650T>C)
2g.96254973A>TCA347653614TMEM127c.269T>A (p.Val90Glu)
c.17T>A (p.Val6Glu)
c.-650T>A (n.-650T>A)
2g.96254973_96254977delinsACTGTCA1272522559TMEM127c.265_269delinsACAGT (p.Thr89=)
c.13_17delinsACAGT (p.Thr5=)
c.-654_-650delinsACAGT (n.-654_-650delinsACAGT)
2g.96254974C>ACA347653619TMEM127c.268G>T (p.Val90Leu)
c.16G>T (p.Val6Leu)
c.-651G>T (n.-651G>T)
2g.96254974C=CA1272522560TMEM127c.268G= (p.Val90=)
c.16G= (p.Val6=)
c.-651G= (n.-651G=)
2g.96254974C>GCA347653621TMEM127c.268G>C (p.Val90Leu)
c.16G>C (p.Val6Leu)
c.-651G>C (n.-651G>C)
 gnomAD v4
2g.96254974C>TCA186367TMEM127c.268G>A (p.Val90Met)
c.16G>A (p.Val6Met)
c.-651G>A (n.-651G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254974_96254975delCA2586964995TMEM127c.267_268del (p.Val90AlafsTer17)
c.15_16del (p.Val6AlafsTer17)
c.-652_-651del (n.-652_-651del)
 ClinVar
2g.96254977_96254980delCA269746TMEM127c.265_268del (p.Thr89CysfsTer?)
c.13_16del (p.Thr5CysfsTer?)
c.-654_-651del (n.-654_-651del)
 ClinVar dbSNP
2g.96254975T>ACA427495622TMEM127c.267A>T (p.Thr89=)
c.15A>T (p.Thr5=)
c.-652A>T (n.-652A>T)
2g.96254975T>CCA1777364TMEM127c.267A>G (p.Thr89=)
c.15A>G (p.Thr5=)
c.-652A>G (n.-652A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254975T>GCA427495624TMEM127c.267A>C (p.Thr89=)
c.15A>C (p.Thr5=)
c.-652A>C (n.-652A>C)
 gnomAD v4
2g.96254975T=CA1272522561TMEM127c.267A= (p.Thr89=)
c.15A= (p.Thr5=)
c.-652A= (n.-652A=)
2g.96254976G>ACA52413173TMEM127c.266C>T (p.Thr89Ile)
c.14C>T (p.Thr5Ile)
c.-653C>T (n.-653C>T)
 ClinVar dbSNP gnomAD v4
2g.96254976G>CCA10578178TMEM127c.266C>G (p.Thr89Arg)
c.14C>G (p.Thr5Arg)
c.-653C>G (n.-653C>G)
 ClinVar dbSNP gnomAD v4
2g.96254976G=CA1272522562TMEM127c.266C= (p.Thr89=)
c.14C= (p.Thr5=)
c.-653C= (n.-653C=)
2g.96254976G>TCA347653624TMEM127c.266C>A (p.Thr89Lys)
c.14C>A (p.Thr5Lys)
c.-653C>A (n.-653C>A)
 dbSNP gnomAD v2
2g.96254977T>ACA347653625TMEM127c.265A>T (p.Thr89Ser)
c.13A>T (p.Thr5Ser)
c.-654A>T (n.-654A>T)
 gnomAD v4
2g.96254977T>CCA347653627TMEM127c.265A>G (p.Thr89Ala)
c.13A>G (p.Thr5Ala)
c.-654A>G (n.-654A>G)
 ClinVar dbSNP
2g.96254977T>GCA347653629TMEM127c.265A>C (p.Thr89Pro)
c.13A>C (p.Thr5Pro)
c.-654A>C (n.-654A>C)
2g.96254977T=CA1272522563TMEM127c.265A= (p.Thr89=)
c.13A= (p.Thr5=)
c.-654A= (n.-654A=)
2g.96254978C>ACA347653630TMEM127c.264G>T (p.Gln88His)
c.12G>T (p.Gln4His)
c.-655G>T (n.-655G>T)
2g.96254978C>GCA347653631TMEM127c.264G>C (p.Gln88His)
c.12G>C (p.Gln4His)
c.-655G>C (n.-655G>C)
2g.96254978C>TCA427495629TMEM127c.264G>A (p.Gln88=)
c.12G>A (p.Gln4=)
c.-655G>A (n.-655G>A)
2g.96254979T>ACA347653633TMEM127c.263A>T (p.Gln88Leu)
c.11A>T (p.Gln4Leu)
c.-656A>T (n.-656A>T)
2g.96254979T>CCA347653635TMEM127c.263A>G (p.Gln88Arg)
c.11A>G (p.Gln4Arg)
c.-656A>G (n.-656A>G)
2g.96254979T>GCA347653639TMEM127c.263A>C (p.Gln88Pro)
c.11A>C (p.Gln4Pro)
c.-656A>C (n.-656A>C)
2g.96254980G>ACA347653644TMEM127c.262C>T (p.Gln88Ter)
c.10C>T (p.Gln4Ter)
c.-657C>T (n.-657C>T)
 ClinVar
2g.96254980G>CCA347653642TMEM127c.262C>G (p.Gln88Glu)
c.10C>G (p.Gln4Glu)
c.-657C>G (n.-657C>G)
 COSMIC
2g.96254980G>TCA347653643TMEM127c.262C>A (p.Gln88Lys)
c.10C>A (p.Gln4Lys)
c.-657C>A (n.-657C>A)
2g.96254981G>ACA427495632TMEM127c.261C>T (p.Pro87=)
c.9C>T (p.Pro3=)
c.-658C>T (n.-658C>T)
 ClinVar dbSNP gnomAD v4
2g.96254981G>CCA427495635TMEM127c.261C>G (p.Pro87=)
c.9C>G (p.Pro3=)
c.-658C>G (n.-658C>G)
 ClinVar dbSNP gnomAD v4
2g.96254981G=CA1272522564TMEM127c.261C= (p.Pro87=)
c.9C= (p.Pro3=)
c.-658C= (n.-658C=)
2g.96254981G>TCA427495634TMEM127c.261C>A (p.Pro87=)
c.9C>A (p.Pro3=)
c.-658C>A (n.-658C>A)
 gnomAD v4
2g.96254982G>ACA347653645TMEM127c.260C>T (p.Pro87Leu)
c.8C>T (p.Pro3Leu)
c.-659C>T (n.-659C>T)
 ClinVar dbSNP
2g.96254982G>CCA347653646TMEM127c.260C>G (p.Pro87Arg)
c.8C>G (p.Pro3Arg)
c.-659C>G (n.-659C>G)
 ClinVar
2g.96254982G=CA1272522565TMEM127c.260C= (p.Pro87=)
c.8C= (p.Pro3=)
c.-659C= (n.-659C=)
2g.96254982G>TCA347653647TMEM127c.260C>A (p.Pro87His)
c.8C>A (p.Pro3His)
c.-659C>A (n.-659C>A)
2g.96254983G>ACA347653649TMEM127c.259C>T (p.Pro87Ser)
c.7C>T (p.Pro3Ser)
c.-660C>T (n.-660C>T)
2g.96254983G>CCA1777365TMEM127c.259C>G (p.Pro87Ala)
c.7C>G (p.Pro3Ala)
c.-660C>G (n.-660C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96254983G=CA1272522566TMEM127c.259C= (p.Pro87=)
c.7C= (p.Pro3=)
c.-660C= (n.-660C=)
2g.96254983G>TCA347653651TMEM127c.259C>A (p.Pro87Thr)
c.7C>A (p.Pro3Thr)
c.-660C>A (n.-660C>A)
2g.96254984A=CA1272522567TMEM127c.258T= (p.Asn86=)
c.6T= (p.Asn2=)
c.-661T= (n.-661T=)
2g.96254984A>CCA347653652TMEM127c.258T>G (p.Asn86Lys)
c.6T>G (p.Asn2Lys)
c.-661T>G (n.-661T>G)
2g.96254984A>GCA427495637TMEM127c.258T>C (p.Asn86=)
c.6T>C (p.Asn2=)
c.-661T>C (n.-661T>C)
 dbSNP
2g.96254984A>TCA347653658TMEM127c.258T>A (p.Asn86Lys)
c.6T>A (p.Asn2Lys)
c.-661T>A (n.-661T>A)
2g.96254985T>ACA347653660TMEM127c.257A>T (p.Asn86Ile)
c.5A>T (p.Asn2Ile)
c.-662A>T (n.-662A>T)
2g.96254985T>CCA347653661TMEM127c.257A>G (p.Asn86Ser)
c.5A>G (p.Asn2Ser)
c.-662A>G (n.-662A>G)
 ClinVar
2g.96254985T>GCA347653662TMEM127c.257A>C (p.Asn86Thr)
c.5A>C (p.Asn2Thr)
c.-662A>C (n.-662A>C)
2g.96254986T>ACA347653664TMEM127c.256A>T (p.Asn86Tyr)
c.4A>T (p.Asn2Tyr)
c.-663A>T (n.-663A>T)
2g.96254986T>CCA347653666TMEM127c.256A>G (p.Asn86Asp)
c.4A>G (p.Asn2Asp)
c.-663A>G (n.-663A>G)
2g.96254986T>GCA347653663TMEM127c.256A>C (p.Asn86His)
c.4A>C (p.Asn2His)
c.-663A>C (n.-663A>C)
 dbSNP
2g.96254986T=CA1272522568TMEM127c.256A= (p.Asn86=)
c.4A= (p.Asn2=)
c.-663A= (n.-663A=)
2g.96254987C>ACA347653667TMEM127c.255G>T (p.Met85Ile)
c.3G>T (p.Met1Ile)
c.-664G>T (n.-664G>T)
2g.96254987C>GCA347653668TMEM127c.255G>C (p.Met85Ile)
c.3G>C (p.Met1Ile)
c.-664G>C (n.-664G>C)
2g.96254987C>TCA347653669TMEM127c.255G>A (p.Met85Ile)
c.3G>A (p.Met1Ile)
c.-664G>A (n.-664G>A)
2g.96254987dupCA2497030151TMEM127c.255dup (p.Asn86GlufsTer22)
c.3dup (p.Asn2GlufsTer22)
c.-664dup (n.-664dup)
2g.96254988A=CA1272522569TMEM127c.254T= (p.Met85=)
c.2T= (p.Met1=)
c.-665T= (n.-665T=)
2g.96254988A>CCA347653671TMEM127c.254T>G (p.Met85Arg)
c.2T>G (p.Met1Arg)
c.-665T>G (n.-665T>G)
 ClinVar dbSNP
2g.96254988A>GCA347653674TMEM127c.254T>C (p.Met85Thr)
c.2T>C (p.Met1Thr)
c.-665T>C (n.-665T>C)
 gnomAD v4 COSMIC
2g.96254988A>TCA347653676TMEM127c.254T>A (p.Met85Lys)
c.2T>A (p.Met1Lys)
c.-665T>A (n.-665T>A)
2g.96254989T>ACA347653685TMEM127c.253A>T (p.Met85Leu)
c.1A>T (p.Met1Leu)
c.-666A>T (n.-666A>T)
2g.96254989T>CCA195188TMEM127c.253A>G (p.Met85Val)
c.1A>G (p.Met1Val)
c.-666A>G (n.-666A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96254989T>GCA347653682TMEM127c.253A>C (p.Met85Leu)
c.1A>C (p.Met1Leu)
c.-666A>C (n.-666A>C)
 ClinVar dbSNP
2g.96254989T=CA1272522570TMEM127c.253A= (p.Met85=)
c.1A= (p.Met1=)
c.-666A= (n.-666A=)
2g.96254990G>ACA427495650TMEM127c.252C>T (p.Cys84=)
c.-1C>T (n.-1C>T)
c.-667C>T (n.-667C>T)
 ClinVar gnomAD v4
2g.96254990G>CCA347653687TMEM127c.252C>G (p.Cys84Trp)
c.-1C>G (n.-1C>G)
c.-667C>G (n.-667C>G)
2g.96254990G=CA1272522571TMEM127c.252C= (p.Cys84=)
c.-1C= (n.-1C=)
c.-667C= (n.-667C=)
2g.96254990G>TCA347653688TMEM127c.252C>A (p.Cys84Ter)
c.-1C>A (n.-1C>A)
c.-667C>A (n.-667C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96254991C>ACA347653692TMEM127c.251G>T (p.Cys84Phe)
c.-2G>T (n.-2G>T)
c.-668G>T (n.-668G>T)
 ClinVar dbSNP
2g.96254991C=CA1272522572TMEM127c.251G= (p.Cys84=)
c.-2G= (n.-2G=)
c.-668G= (n.-668G=)
2g.96254991C>GCA347653694TMEM127c.251G>C (p.Cys84Ser)
c.-2G>C (n.-2G>C)
c.-668G>C (n.-668G>C)
 ClinVar
2g.96254991C>TCA347653698TMEM127c.251G>A (p.Cys84Tyr)
c.-2G>A (n.-2G>A)
c.-668G>A (n.-668G>A)
 dbSNP
2g.96254992A=CA1272522573TMEM127c.250T= (p.Cys84=)
c.-3T= (n.-3T=)
c.-669T= (n.-669T=)
2g.96254992A>CCA347653699TMEM127c.250T>G (p.Cys84Gly)
c.-3T>G (n.-3T>G)
c.-669T>G (n.-669T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96254992A>GCA347653704TMEM127c.250T>C (p.Cys84Arg)
c.-3T>C (n.-3T>C)
c.-669T>C (n.-669T>C)
 ClinVar gnomAD v4
2g.96254992A>TCA347653701TMEM127c.250T>A (p.Cys84Ser)
c.-3T>A (n.-3T>A)
c.-669T>A (n.-669T>A)
 dbSNP gnomAD v3 gnomAD v4
2g.96254993G>ACA427495654TMEM127c.249C>T (p.Phe83=)
c.-4C>T (n.-4C>T)
c.-670C>T (n.-670C>T)
 gnomAD v4
2g.96254993G>CCA347653709TMEM127c.249C>G (p.Phe83Leu)
c.-4C>G (n.-4C>G)
c.-670C>G (n.-670C>G)
2g.96254993G>TCA347653710TMEM127c.249C>A (p.Phe83Leu)
c.-4C>A (n.-4C>A)
c.-670C>A (n.-670C>A)
 ClinVar
2g.96254993_96254994delinsGACA1272522574TMEM127c.248_249delinsTC (p.Phe83=)
c.-5_-4delinsTC (n.-5_-4delinsTC)
c.-671_-670delinsTC (n.-671_-670delinsTC)
2g.96254994A>CCA347653719TMEM127c.248T>G (p.Phe83Cys)
c.-5T>G (n.-5T>G)
c.-671T>G (n.-671T>G)
2g.96254994A>GCA347653720TMEM127c.248T>C (p.Phe83Ser)
c.-5T>C (n.-5T>C)
c.-671T>C (n.-671T>C)
2g.96254994A>TCA347653726TMEM127c.248T>A (p.Phe83Tyr)
c.-5T>A (n.-5T>A)
c.-671T>A (n.-671T>A)
2g.96254996delCA165536TMEM127c.248del (p.Phe83SerfsTer3)
c.-5del (n.-5del)
c.-671del (n.-671del)
 ClinVar dbSNP gnomAD v2
2g.96254995A=CA1272522575TMEM127c.247T= (p.Phe83=)
c.-6T= (n.-6T=)
c.-672T= (n.-672T=)
2g.96254995A>CCA347653733TMEM127c.247T>G (p.Phe83Val)
c.-6T>G (n.-6T>G)
c.-672T>G (n.-672T>G)
2g.96254995A>GCA347653736TMEM127c.247T>C (p.Phe83Leu)
c.-6T>C (n.-6T>C)
c.-672T>C (n.-672T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.96254995A>TCA347653738TMEM127c.247T>A (p.Phe83Ile)
c.-6T>A (n.-6T>A)
c.-672T>A (n.-672T>A)
2g.96254996A>CCA347653742TMEM127c.246T>G (p.Asp82Glu)
c.-7T>G (n.-7T>G)
c.-673T>G (n.-673T>G)
2g.96254996A>GCA427495659TMEM127c.246T>C (p.Asp82=)
c.-7T>C (n.-7T>C)
c.-673T>C (n.-673T>C)
2g.96254996A>TCA347653743TMEM127c.246T>A (p.Asp82Glu)
c.-7T>A (n.-7T>A)
c.-673T>A (n.-673T>A)
2g.96254996_96254998delinsATCCA1272522576TMEM127c.245-1_246delinsGAT
c.-8-1_-7delinsGAT
c.-674-1_-673delinsGAT
2g.96254997T>ACA347653754TMEM127c.245A>T (p.Asp82Val)
c.-8A>T (n.-8A>T)
c.-674A>T (n.-674A>T)
 ClinVar
2g.96254997T>CCA347653747TMEM127c.245A>G (p.Asp82Gly)
c.-8A>G (n.-8A>G)
c.-674A>G (n.-674A>G)
2g.96254997T>GCA347653745TMEM127c.245A>C (p.Asp82Ala)
c.-8A>C (n.-8A>C)
c.-674A>C (n.-674A>C)
2g.96254998_96254999delCA534371015TMEM127c.245-1_245del
c.-8-1_-8del
c.-674-1_-674del
 dbSNP gnomAD v2 gnomAD v4
2g.96254998C>ACA113858TMEM127c.245-1G>T (n.245-1G>T)
c.-8-1G>T (n.-8-1G>T)
c.-674-1G>T (n.-674-1G>T)
 ClinVar dbSNP
2g.96254998C=CA1272522577TMEM127c.245-1G= (n.245-1G=)
c.-8-1G= (n.-8-1G=)
c.-674-1G= (n.-674-1G=)
2g.96254998C>GCA347653758TMEM127c.245-1G>C (n.245-1G>C)
c.-8-1G>C (n.-8-1G>C)
c.-674-1G>C (n.-674-1G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96254998C>TCA347653757TMEM127c.245-1G>A (n.245-1G>A)
c.-8-1G>A (n.-8-1G>A)
c.-674-1G>A (n.-674-1G>A)
 ClinVar
2g.96254999delCA2580611371TMEM127c.245-2del (n.245-2del)
c.-8-2del (n.-8-2del)
c.-674-2del (n.-674-2del)
 ClinVar
2g.96254999T>ACA347653760TMEM127c.245-2A>T (n.245-2A>T)
c.-8-2A>T (n.-8-2A>T)
c.-674-2A>T (n.-674-2A>T)
2g.96254999T>CCA347653762TMEM127c.245-2A>G (n.245-2A>G)
c.-8-2A>G (n.-8-2A>G)
c.-674-2A>G (n.-674-2A>G)
 ClinVar dbSNP
2g.96254999T>GCA347653764TMEM127c.245-2A>C (n.245-2A>C)
c.-8-2A>C (n.-8-2A>C)
c.-674-2A>C (n.-674-2A>C)
2g.96254999_96255000insTTCAGCAGCA2660178329TMEM127c.245-3_245-2insCTGCTGAA (n.245-3_245-2insCTGCTGAA)
c.-8-3_-8-2insCTGCTGAA (n.-8-3_-8-2insCTGCTGAA)
c.-674-3_-674-2insCTGCTGAA (n.-674-3_-674-2insCTGCTGAA)
 gnomAD v4
2g.96255000G>ACA1777366TMEM127c.245-3C>T (n.245-3C>T)
c.-8-3C>T (n.-8-3C>T)
c.-674-3C>T (n.-674-3C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96255000G>CCA2751312043TMEM127c.245-3C>G (n.245-3C>G)
c.-8-3C>G (n.-8-3C>G)
c.-674-3C>G (n.-674-3C>G)
2g.96255000G=CA1272522578TMEM127c.245-3C= (n.245-3C=)
c.-8-3C= (n.-8-3C=)
c.-674-3C= (n.-674-3C=)
2g.96255001T>CCA52413198TMEM127c.245-4A>G (n.245-4A>G)
c.-8-4A>G (n.-8-4A>G)
c.-674-4A>G (n.-674-4A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96255001T>GCA2580068403TMEM127c.245-4A>C (n.245-4A>C)
c.-8-4A>C (n.-8-4A>C)
c.-674-4A>C (n.-674-4A>C)
 ClinVar
2g.96255001T=CA1272522579TMEM127c.245-4A= (n.245-4A=)
c.-8-4A= (n.-8-4A=)
c.-674-4A= (n.-674-4A=)
2g.96255001_96255002insCCGGGTGCACATAGCCCCA2660178331TMEM127c.245-5_245-4insGGGCTATGTGCACCCGG (n.245-5_245-4insGGGCTATGTGCACCCGG)
c.-8-5_-8-4insGGGCTATGTGCACCCGG (n.-8-5_-8-4insGGGCTATGTGCACCCGG)
c.-674-5_-674-4insGGGCTATGTGCACCCGG (n.-674-5_-674-4insGGGCTATGTGCACCCGG)
 gnomAD v4
2g.96255002A>CCA2577034256TMEM127c.245-5T>G (n.245-5T>G)
c.-8-5T>G (n.-8-5T>G)
c.-674-5T>G (n.-674-5T>G)
 ClinVar
2g.96255002A>GCA2577034257TMEM127c.245-5T>C (n.245-5T>C)
c.-8-5T>C (n.-8-5T>C)
c.-674-5T>C (n.-674-5T>C)
 gnomAD v4

Number of alleles fetched