Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.96253903_96254383delCA2573135942TMEM127c.410-265_625del
c.158-265_373del
c.-509-265_-294del
 ClinVar dbSNP
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

Number of alleles fetched