Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.96253888_96253889delCA1272522042TMEM127c.639_640del (p.Glu213AspfsTer12)
c.387_388del (p.Glu129AspfsTer12)
c.-280_-279del (n.-280_-279del)
dbSNP
2g.96253887_96253900dupCA269763TMEM127c.627_640dup (p.Met214SerfsTer?)
c.375_388dup (p.Met130SerfsTer?)
c.-292_-279dup (n.-292_-279dup)
ClinVar dbSNP
2g.96253887T>ACA347651731TMEM127c.638A>T (p.Glu213Val)
c.386A>T (p.Glu129Val)
c.-281A>T (n.-281A>T)
ClinVar
2g.96253887T>CCA347651734TMEM127c.638A>G (p.Glu213Gly)
c.386A>G (p.Glu129Gly)
c.-281A>G (n.-281A>G)
dbSNP gnomAD v4
2g.96253887T>GCA347651729TMEM127c.638A>C (p.Glu213Ala)
c.386A>C (p.Glu129Ala)
c.-281A>C (n.-281A>C)
2g.96253887T=CA1272522045TMEM127c.638A= (p.Glu213=)
c.386A= (p.Glu129=)
c.-281A= (n.-281A=)
2g.96253888C>ACA347651735TMEM127c.637G>T (p.Glu213Ter)
c.385G>T (p.Glu129Ter)
c.-282G>T (n.-282G>T)
2g.96253888C>GCA347651736TMEM127c.637G>C (p.Glu213Gln)
c.385G>C (p.Glu129Gln)
c.-282G>C (n.-282G>C)
dbSNP COSMIC
2g.96253888C>TCA347651737TMEM127c.637G>A (p.Glu213Lys)
c.385G>A (p.Glu129Lys)
c.-282G>A (n.-282G>A)
ClinVar dbSNP
2g.96253889T>ACA427807779TMEM127c.636A>T (p.Ser212=)
c.384A>T (p.Ser128=)
c.-283A>T (n.-283A>T)
2g.96253889T>CCA427807780TMEM127c.636A>G (p.Ser212=)
c.384A>G (p.Ser128=)
c.-283A>G (n.-283A>G)
ClinVar dbSNP gnomAD v4
2g.96253889T>GCA427807781TMEM127c.636A>C (p.Ser212=)
c.384A>C (p.Ser128=)
c.-283A>C (n.-283A>C)
2g.96253889T=CA1272522046TMEM127c.636A= (p.Ser212=)
c.384A= (p.Ser128=)
c.-283A= (n.-283A=)
2g.96253890G>ACA347651738TMEM127c.635C>T (p.Ser212Leu)
c.383C>T (p.Ser128Leu)
c.-284C>T (n.-284C>T)
dbSNP
2g.96253890G>CCA347651739TMEM127c.635C>G (p.Ser212Ter)
c.383C>G (p.Ser128Ter)
c.-284C>G (n.-284C>G)
dbSNP
2g.96253890G>TCA347651741TMEM127c.635C>A (p.Ser212Ter)
c.383C>A (p.Ser128Ter)
c.-284C>A (n.-284C>A)
dbSNP
2g.96253891A=CA1272522047TMEM127c.634T= (p.Ser212=)
c.382T= (p.Ser128=)
c.-285T= (n.-285T=)
2g.96253891A>CCA347651743TMEM127c.634T>G (p.Ser212Ala)
c.382T>G (p.Ser128Ala)
c.-285T>G (n.-285T>G)
2g.96253891A>GCA347651747TMEM127c.634T>C (p.Ser212Pro)
c.382T>C (p.Ser128Pro)
c.-285T>C (n.-285T>C)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.96253891A>TCA1777266TMEM127c.634T>A (p.Ser212Thr)
c.382T>A (p.Ser128Thr)
c.-285T>A (n.-285T>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96253892G>ACA1777267TMEM127c.633C>T (p.Leu211=)
c.381C>T (p.Leu127=)
c.-286C>T (n.-286C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96253892G>CCA427807786TMEM127c.633C>G (p.Leu211=)
c.381C>G (p.Leu127=)
c.-286C>G (n.-286C>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96253892G=CA1272522048TMEM127c.633C= (p.Leu211=)
c.381C= (p.Leu127=)
c.-286C= (n.-286C=)
2g.96253892G>TCA427807787TMEM127c.633C>A (p.Leu211=)
c.381C>A (p.Leu127=)
c.-286C>A (n.-286C>A)
2g.96253893A>CCA347651759TMEM127c.632T>G (p.Leu211Arg)
c.380T>G (p.Leu127Arg)
c.-287T>G (n.-287T>G)
2g.96253893A>GCA347651775TMEM127c.632T>C (p.Leu211Pro)
c.380T>C (p.Leu127Pro)
c.-287T>C (n.-287T>C)
dbSNP
2g.96253893A>TCA347651779TMEM127c.632T>A (p.Leu211His)
c.380T>A (p.Leu127His)
c.-287T>A (n.-287T>A)
dbSNP
2g.96253894G>ACA347651823TMEM127c.631C>T (p.Leu211Phe)
c.379C>T (p.Leu127Phe)
c.-288C>T (n.-288C>T)
dbSNP
2g.96253894G>CCA347651813TMEM127c.631C>G (p.Leu211Val)
c.379C>G (p.Leu127Val)
c.-288C>G (n.-288C>G)
dbSNP
2g.96253894G>TCA347651793TMEM127c.631C>A (p.Leu211Ile)
c.379C>A (p.Leu127Ile)
c.-288C>A (n.-288C>A)
2g.96253895C>ACA427807791TMEM127c.630G>T (p.Leu210=)
c.378G>T (p.Leu126=)
c.-289G>T (n.-289G>T)
ClinVar
2g.96253895C=CA1272522049TMEM127c.630G= (p.Leu210=)
c.378G= (p.Leu126=)
c.-289G= (n.-289G=)
2g.96253895C>GCA427807792TMEM127c.630G>C (p.Leu210=)
c.378G>C (p.Leu126=)
c.-289G>C (n.-289G>C)
ClinVar dbSNP
2g.96253895C>TCA427807793TMEM127c.630G>A (p.Leu210=)
c.378G>A (p.Leu126=)
c.-289G>A (n.-289G>A)
ClinVar dbSNP
2g.96253896A>CCA347651825TMEM127c.629T>G (p.Leu210Arg)
c.377T>G (p.Leu126Arg)
c.-290T>G (n.-290T>G)
2g.96253896A>GCA347651827TMEM127c.629T>C (p.Leu210Pro)
c.377T>C (p.Leu126Pro)
c.-290T>C (n.-290T>C)
dbSNP
2g.96253896A>TCA347651828TMEM127c.629T>A (p.Leu210Gln)
c.377T>A (p.Leu126Gln)
c.-290T>A (n.-290T>A)
dbSNP
2g.96253897G>ACA427807797TMEM127c.628C>T (p.Leu210=)
c.376C>T (p.Leu126=)
c.-291C>T (n.-291C>T)
dbSNP
2g.96253897G>CCA347651830TMEM127c.628C>G (p.Leu210Val)
c.376C>G (p.Leu126Val)
c.-291C>G (n.-291C>G)
dbSNP
2g.96253897G>TCA347651833TMEM127c.628C>A (p.Leu210Met)
c.376C>A (p.Leu126Met)
c.-291C>A (n.-291C>A)
2g.96253898C>ACA347651844TMEM127c.627G>T (p.Glu209Asp)
c.375G>T (p.Glu125Asp)
c.-292G>T (n.-292G>T)
2g.96253898C>GCA347651848TMEM127c.627G>C (p.Glu209Asp)
c.375G>C (p.Glu125Asp)
c.-292G>C (n.-292G>C)
dbSNP
2g.96253898C>TCA427807798TMEM127c.627G>A (p.Glu209=)
c.375G>A (p.Glu125=)
c.-292G>A (n.-292G>A)
ClinVar dbSNP
2g.96253899T>ACA347651853TMEM127c.626A>T (p.Glu209Val)
c.374A>T (p.Glu125Val)
c.-293A>T (n.-293A>T)
ClinVar dbSNP gnomAD v4
2g.96253899T>CCA347651854TMEM127c.626A>G (p.Glu209Gly)
c.374A>G (p.Glu125Gly)
c.-293A>G (n.-293A>G)
dbSNP
2g.96253899T>GCA347651855TMEM127c.626A>C (p.Glu209Ala)
c.374A>C (p.Glu125Ala)
c.-293A>C (n.-293A>C)
2g.96253899T=CA1272522050TMEM127c.626A= (p.Glu209=)
c.374A= (p.Glu125=)
c.-293A= (n.-293A=)
2g.96253900C>ACA347651856TMEM127c.625G>T (p.Glu209Ter)
c.373G>T (p.Glu125Ter)
c.-294G>T (n.-294G>T)
2g.96253900C>GCA347651857TMEM127c.625G>C (p.Glu209Gln)
c.373G>C (p.Glu125Gln)
c.-294G>C (n.-294G>C)
dbSNP
2g.96253900C>TCA347651858TMEM127c.625G>A (p.Glu209Lys)
c.373G>A (p.Glu125Lys)
c.-294G>A (n.-294G>A)
dbSNP gnomAD v4

Number of alleles fetched