Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.96253852C>ACA347651305TMEM127c.673G>T (p.Glu225Ter)
c.421G>T (p.Glu141Ter)
c.-246G>T (n.-246G>T)
2g.96253852C>GCA347651307TMEM127c.673G>C (p.Glu225Gln)
c.421G>C (p.Glu141Gln)
c.-246G>C (n.-246G>C)
 dbSNP
2g.96253852C>TCA347651302TMEM127c.673G>A (p.Glu225Lys)
c.421G>A (p.Glu141Lys)
c.-246G>A (n.-246G>A)
 ClinVar dbSNP
2g.96253853A=CA1272522021TMEM127c.672T= (p.Tyr224=)
c.420T= (p.Tyr140=)
c.-247T= (n.-247T=)
2g.96253853A>CCA347651322TMEM127c.672T>G (p.Tyr224Ter)
c.420T>G (p.Tyr140Ter)
c.-247T>G (n.-247T>G)
 gnomAD v4
2g.96253853A>GCA1777258TMEM127c.672T>C (p.Tyr224=)
c.420T>C (p.Tyr140=)
c.-247T>C (n.-247T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96253853A>TCA347651323TMEM127c.672T>A (p.Tyr224Ter)
c.420T>A (p.Tyr140Ter)
c.-247T>A (n.-247T>A)
 dbSNP
2g.96253854T>ACA347651325TMEM127c.671A>T (p.Tyr224Phe)
c.419A>T (p.Tyr140Phe)
c.-248A>T (n.-248A>T)
2g.96253854T>CCA16611120TMEM127c.671A>G (p.Tyr224Cys)
c.419A>G (p.Tyr140Cys)
c.-248A>G (n.-248A>G)
 ClinVar dbSNP
2g.96253854T>GCA347651326TMEM127c.671A>C (p.Tyr224Ser)
c.419A>C (p.Tyr140Ser)
c.-248A>C (n.-248A>C)
2g.96253854T=CA1272522022TMEM127c.671A= (p.Tyr224=)
c.419A= (p.Tyr140=)
c.-248A= (n.-248A=)
2g.96253855A>CCA347651330TMEM127c.670T>G (p.Tyr224Asp)
c.418T>G (p.Tyr140Asp)
c.-249T>G (n.-249T>G)
 dbSNP
2g.96253855A>GCA347651335TMEM127c.670T>C (p.Tyr224His)
c.418T>C (p.Tyr140His)
c.-249T>C (n.-249T>C)
2g.96253855A>TCA347651337TMEM127c.670T>A (p.Tyr224Asn)
c.418T>A (p.Tyr140Asn)
c.-249T>A (n.-249T>A)
2g.96253856T>ACA347651339TMEM127c.669A>T (p.Glu223Asp)
c.417A>T (p.Glu139Asp)
c.-250A>T (n.-250A>T)
 ClinVar dbSNP
2g.96253856T>CCA427807735TMEM127c.669A>G (p.Glu223=)
c.417A>G (p.Glu139=)
c.-250A>G (n.-250A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.96253856T>GCA347651343TMEM127c.669A>C (p.Glu223Asp)
c.417A>C (p.Glu139Asp)
c.-250A>C (n.-250A>C)
2g.96253856T=CA1272522023TMEM127c.669A= (p.Glu223=)
c.417A= (p.Glu139=)
c.-250A= (n.-250A=)
2g.96253857T>ACA347651349TMEM127c.668A>T (p.Glu223Val)
c.416A>T (p.Glu139Val)
c.-251A>T (n.-251A>T)
2g.96253857T>CCA347651350TMEM127c.668A>G (p.Glu223Gly)
c.416A>G (p.Glu139Gly)
c.-251A>G (n.-251A>G)
 dbSNP
2g.96253857T>GCA347651365TMEM127c.668A>C (p.Glu223Ala)
c.416A>C (p.Glu139Ala)
c.-251A>C (n.-251A>C)
2g.96253858C>ACA347651375TMEM127c.667G>T (p.Glu223Ter)
c.415G>T (p.Glu139Ter)
c.-252G>T (n.-252G>T)
 dbSNP
2g.96253858C=CA1272522024TMEM127c.667G= (p.Glu223=)
c.415G= (p.Glu139=)
c.-252G= (n.-252G=)
2g.96253858C>GCA347651371TMEM127c.667G>C (p.Glu223Gln)
c.415G>C (p.Glu139Gln)
c.-252G>C (n.-252G>C)
 dbSNP
2g.96253858C>TCA52411904TMEM127c.667G>A (p.Glu223Lys)
c.415G>A (p.Glu139Lys)
c.-252G>A (n.-252G>A)
 ClinVar dbSNP gnomAD v4
2g.96253859C>ACA427807739TMEM127c.666G>T (p.Ala222=)
c.414G>T (p.Ala138=)
c.-253G>T (n.-253G>T)
 dbSNP
2g.96253859C=CA1272522025TMEM127c.666G= (p.Ala222=)
c.414G= (p.Ala138=)
c.-253G= (n.-253G=)
2g.96253859C>GCA427807740TMEM127c.666G>C (p.Ala222=)
c.414G>C (p.Ala138=)
c.-253G>C (n.-253G>C)
 dbSNP
2g.96253859C>TCA1777259TMEM127c.666G>A (p.Ala222=)
c.414G>A (p.Ala138=)
c.-253G>A (n.-253G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96253860G>ACA1777260TMEM127c.665C>T (p.Ala222Val)
c.413C>T (p.Ala138Val)
c.-254C>T (n.-254C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.96253860G>CCA347651404TMEM127c.665C>G (p.Ala222Gly)
c.413C>G (p.Ala138Gly)
c.-254C>G (n.-254C>G)
 ClinVar dbSNP
2g.96253860G=CA1272522026TMEM127c.665C= (p.Ala222=)
c.413C= (p.Ala138=)
c.-254C= (n.-254C=)
2g.96253860G>TCA347651409TMEM127c.665C>A (p.Ala222Glu)
c.413C>A (p.Ala138Glu)
c.-254C>A (n.-254C>A)
 gnomAD v4
2g.96253861C>ACA347651412TMEM127c.664G>T (p.Ala222Ser)
c.412G>T (p.Ala138Ser)
c.-255G>T (n.-255G>T)
 ClinVar dbSNP gnomAD v4
2g.96253861C=CA1272522027TMEM127c.664G= (p.Ala222=)
c.412G= (p.Ala138=)
c.-255G= (n.-255G=)
2g.96253861C>GCA347651421TMEM127c.664G>C (p.Ala222Pro)
c.412G>C (p.Ala138Pro)
c.-255G>C (n.-255G>C)
2g.96253861C>TCA1777261TMEM127c.664G>A (p.Ala222Thr)
c.412G>A (p.Ala138Thr)
c.-255G>A (n.-255G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96253862C>ACA427807744TMEM127c.663G>T (p.Pro221=)
c.411G>T (p.Pro137=)
c.-256G>T (n.-256G>T)
 dbSNP
2g.96253862C=CA1272522028TMEM127c.663G= (p.Pro221=)
c.411G= (p.Pro137=)
c.-256G= (n.-256G=)
2g.96253862C>GCA52411920TMEM127c.663G>C (p.Pro221=)
c.411G>C (p.Pro137=)
c.-256G>C (n.-256G>C)
 dbSNP
2g.96253862C>TCA1777262TMEM127c.663G>A (p.Pro221=)
c.411G>A (p.Pro137=)
c.-256G>A (n.-256G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96253863G>ACA52411922TMEM127c.662C>T (p.Pro221Leu)
c.410C>T (p.Pro137Leu)
c.-257C>T (n.-257C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96253863G>CCA347651444TMEM127c.662C>G (p.Pro221Arg)
c.410C>G (p.Pro137Arg)
c.-257C>G (n.-257C>G)
 dbSNP
2g.96253863G=CA1272522029TMEM127c.662C= (p.Pro221=)
c.410C= (p.Pro137=)
c.-257C= (n.-257C=)
2g.96253863G>TCA347651446TMEM127c.662C>A (p.Pro221Gln)
c.410C>A (p.Pro137Gln)
c.-257C>A (n.-257C>A)
 dbSNP
2g.96253864G>ACA347651452TMEM127c.661C>T (p.Pro221Ser)
c.409C>T (p.Pro137Ser)
c.-258C>T (n.-258C>T)
 dbSNP gnomAD v4
2g.96253864G>CCA347651456TMEM127c.661C>G (p.Pro221Ala)
c.409C>G (p.Pro137Ala)
c.-258C>G (n.-258C>G)
 ClinVar dbSNP
2g.96253864G>TCA347651448TMEM127c.661C>A (p.Pro221Thr)
c.409C>A (p.Pro137Thr)
c.-258C>A (n.-258C>A)
2g.96253865G>ACA427807748TMEM127c.660C>T (p.Tyr220=)
c.408C>T (p.Tyr136=)
c.-259C>T (n.-259C>T)
 dbSNP
2g.96253865G>CCA347651459TMEM127c.660C>G (p.Tyr220Ter)
c.408C>G (p.Tyr136Ter)
c.-259C>G (n.-259C>G)
 dbSNP
2g.96253865G>TCA347651467TMEM127c.660C>A (p.Tyr220Ter)
c.408C>A (p.Tyr136Ter)
c.-259C>A (n.-259C>A)
2g.96253866T>ACA347651472TMEM127c.659A>T (p.Tyr220Phe)
c.407A>T (p.Tyr136Phe)
c.-260A>T (n.-260A>T)
 dbSNP
2g.96253866T>CCA347651477TMEM127c.659A>G (p.Tyr220Cys)
c.407A>G (p.Tyr136Cys)
c.-260A>G (n.-260A>G)
 ClinVar dbSNP
2g.96253866T>GCA347651486TMEM127c.659A>C (p.Tyr220Ser)
c.407A>C (p.Tyr136Ser)
c.-260A>C (n.-260A>C)
 dbSNP
2g.96253867A=CA1272522030TMEM127c.658T= (p.Tyr220=)
c.406T= (p.Tyr136=)
c.-261T= (n.-261T=)
2g.96253867A>CCA347651493TMEM127c.658T>G (p.Tyr220Asp)
c.406T>G (p.Tyr136Asp)
c.-261T>G (n.-261T>G)
2g.96253867A>GCA347651492TMEM127c.658T>C (p.Tyr220His)
c.406T>C (p.Tyr136His)
c.-261T>C (n.-261T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.96253867A>TCA347651491TMEM127c.658T>A (p.Tyr220Asn)
c.406T>A (p.Tyr136Asn)
c.-261T>A (n.-261T>A)
 dbSNP
2g.96253868G>ACA427807749TMEM127c.657C>T (p.Pro219=)
c.405C>T (p.Pro135=)
c.-262C>T (n.-262C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.96253868G>CCA427807750TMEM127c.657C>G (p.Pro219=)
c.405C>G (p.Pro135=)
c.-262C>G (n.-262C>G)
2g.96253868G=CA1272522031TMEM127c.657C= (p.Pro219=)
c.405C= (p.Pro135=)
c.-262C= (n.-262C=)
2g.96253868G>TCA427807751TMEM127c.657C>A (p.Pro219=)
c.405C>A (p.Pro135=)
c.-262C>A (n.-262C>A)
 dbSNP
2g.96253869G>ACA347651494TMEM127c.656C>T (p.Pro219Leu)
c.404C>T (p.Pro135Leu)
c.-263C>T (n.-263C>T)
2g.96253869G>CCA347651495TMEM127c.656C>G (p.Pro219Arg)
c.404C>G (p.Pro135Arg)
c.-263C>G (n.-263C>G)
 ClinVar dbSNP
2g.96253869G=CA1272522032TMEM127c.656C= (p.Pro219=)
c.404C= (p.Pro135=)
c.-263C= (n.-263C=)
2g.96253869G>TCA347651499TMEM127c.656C>A (p.Pro219His)
c.404C>A (p.Pro135His)
c.-263C>A (n.-263C>A)
 ClinVar dbSNP
2g.96253870G>ACA347651500TMEM127c.655C>T (p.Pro219Ser)
c.403C>T (p.Pro135Ser)
c.-264C>T (n.-264C>T)
 dbSNP
2g.96253870G>CCA347651503TMEM127c.655C>G (p.Pro219Ala)
c.403C>G (p.Pro135Ala)
c.-264C>G (n.-264C>G)
 dbSNP
2g.96253870G>TCA347651506TMEM127c.655C>A (p.Pro219Thr)
c.403C>A (p.Pro135Thr)
c.-264C>A (n.-264C>A)
2g.96253871C>ACA347651508TMEM127c.654G>T (p.Glu218Asp)
c.402G>T (p.Glu134Asp)
c.-265G>T (n.-265G>T)
 dbSNP
2g.96253871C=CA1272522033TMEM127c.654G= (p.Glu218=)
c.402G= (p.Glu134=)
c.-265G= (n.-265G=)
2g.96253871C>GCA347651509TMEM127c.654G>C (p.Glu218Asp)
c.402G>C (p.Glu134Asp)
c.-265G>C (n.-265G>C)
2g.96253871C>TCA1777263TMEM127c.654G>A (p.Glu218=)
c.402G>A (p.Glu134=)
c.-265G>A (n.-265G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96253872T>ACA347651510TMEM127c.653A>T (p.Glu218Val)
c.401A>T (p.Glu134Val)
c.-266A>T (n.-266A>T)
 dbSNP
2g.96253872T>CCA347651511TMEM127c.653A>G (p.Glu218Gly)
c.401A>G (p.Glu134Gly)
c.-266A>G (n.-266A>G)
2g.96253872T>GCA347651513TMEM127c.653A>C (p.Glu218Ala)
c.401A>C (p.Glu134Ala)
c.-266A>C (n.-266A>C)
2g.96253873C>ACA347651516TMEM127c.652G>T (p.Glu218Ter)
c.400G>T (p.Glu134Ter)
c.-267G>T (n.-267G>T)
 dbSNP
2g.96253873C=CA1272522034TMEM127c.652G= (p.Glu218=)
c.400G= (p.Glu134=)
c.-267G= (n.-267G=)
2g.96253873C>GCA347651519TMEM127c.652G>C (p.Glu218Gln)
c.400G>C (p.Glu134Gln)
c.-267G>C (n.-267G>C)
2g.96253873C>TCA52411938TMEM127c.652G>A (p.Glu218Lys)
c.400G>A (p.Glu134Lys)
c.-267G>A (n.-267G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.96253874G>ACA1777264TMEM127c.651C>T (p.Asn217=)
c.399C>T (p.Asn133=)
c.-268C>T (n.-268C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96253874G>CCA347651542TMEM127c.651C>G (p.Asn217Lys)
c.399C>G (p.Asn133Lys)
c.-268C>G (n.-268C>G)
 dbSNP gnomAD v4
2g.96253874G=CA1272522035TMEM127c.651C= (p.Asn217=)
c.399C= (p.Asn133=)
c.-268C= (n.-268C=)
2g.96253874G>TCA347651546TMEM127c.651C>A (p.Asn217Lys)
c.399C>A (p.Asn133Lys)
c.-268C>A (n.-268C>A)
2g.96253875T>ACA347651549TMEM127c.650A>T (p.Asn217Ile)
c.398A>T (p.Asn133Ile)
c.-269A>T (n.-269A>T)
 dbSNP
2g.96253875T>CCA347651551TMEM127c.650A>G (p.Asn217Ser)
c.398A>G (p.Asn133Ser)
c.-269A>G (n.-269A>G)
 dbSNP
2g.96253875T>GCA347651554TMEM127c.650A>C (p.Asn217Thr)
c.398A>C (p.Asn133Thr)
c.-269A>C (n.-269A>C)
 dbSNP
2g.96253876T>ACA347651563TMEM127c.649A>T (p.Asn217Tyr)
c.397A>T (p.Asn133Tyr)
c.-270A>T (n.-270A>T)
2g.96253876T>CCA347651562TMEM127c.649A>G (p.Asn217Asp)
c.397A>G (p.Asn133Asp)
c.-270A>G (n.-270A>G)
 dbSNP
2g.96253876T>GCA347651558TMEM127c.649A>C (p.Asn217His)
c.397A>C (p.Asn133His)
c.-270A>C (n.-270A>C)
2g.96253876T=CA1272522036TMEM127c.649A= (p.Asn217=)
c.397A= (p.Asn133=)
c.-270A= (n.-270A=)
2g.96253879_96253880dupCA2580611362TMEM127c.648_649dup (p.Asn217ArgfsTer?)
c.396_397dup (p.Asn133ArgfsTer?)
c.-271_-270dup (n.-271_-270dup)
 ClinVar dbSNP
2g.96253877C>ACA347651566TMEM127c.648G>T (p.Glu216Asp)
c.396G>T (p.Glu132Asp)
c.-271G>T (n.-271G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.96253877C=CA1272522037TMEM127c.648G= (p.Glu216=)
c.396G= (p.Glu132=)
c.-271G= (n.-271G=)
2g.96253877C>GCA347651572TMEM127c.648G>C (p.Glu216Asp)
c.396G>C (p.Glu132Asp)
c.-271G>C (n.-271G>C)
2g.96253877C>TCA427807762TMEM127c.648G>A (p.Glu216=)
c.396G>A (p.Glu132=)
c.-271G>A (n.-271G>A)
2g.96253878T>ACA347651587TMEM127c.647A>T (p.Glu216Val)
c.395A>T (p.Glu132Val)
c.-272A>T (n.-272A>T)
2g.96253878T>CCA347651590TMEM127c.647A>G (p.Glu216Gly)
c.395A>G (p.Glu132Gly)
c.-272A>G (n.-272A>G)
2g.96253878T>GCA347651593TMEM127c.647A>C (p.Glu216Ala)
c.395A>C (p.Glu132Ala)
c.-272A>C (n.-272A>C)
2g.96253879C>ACA347651596TMEM127c.646G>T (p.Glu216Ter)
c.394G>T (p.Glu132Ter)
c.-273G>T (n.-273G>T)
2g.96253879C>GCA347651599TMEM127c.646G>C (p.Glu216Gln)
c.394G>C (p.Glu132Gln)
c.-273G>C (n.-273G>C)
 dbSNP
2g.96253879C>TCA347651627TMEM127c.646G>A (p.Glu216Lys)
c.394G>A (p.Glu132Lys)
c.-273G>A (n.-273G>A)
 ClinVar dbSNP gnomAD v4
2g.96253880T>ACA347651635TMEM127c.645A>T (p.Glu215Asp)
c.393A>T (p.Glu131Asp)
c.-274A>T (n.-274A>T)
 dbSNP
2g.96253880T>CCA427807764TMEM127c.645A>G (p.Glu215=)
c.393A>G (p.Glu131=)
c.-274A>G (n.-274A>G)
 dbSNP
2g.96253880T>GCA347651642TMEM127c.645A>C (p.Glu215Asp)
c.393A>C (p.Glu131Asp)
c.-274A>C (n.-274A>C)
2g.96253881T>ACA347651646TMEM127c.644A>T (p.Glu215Val)
c.392A>T (p.Glu131Val)
c.-275A>T (n.-275A>T)
2g.96253881T>CCA347651651TMEM127c.644A>G (p.Glu215Gly)
c.392A>G (p.Glu131Gly)
c.-275A>G (n.-275A>G)
 ClinVar dbSNP
2g.96253881T>GCA347651658TMEM127c.644A>C (p.Glu215Ala)
c.392A>C (p.Glu131Ala)
c.-275A>C (n.-275A>C)
 dbSNP
2g.96253881T=CA1272522038TMEM127c.644A= (p.Glu215=)
c.392A= (p.Glu131=)
c.-275A= (n.-275A=)
2g.96253882C>ACA347651673TMEM127c.643G>T (p.Glu215Ter)
c.391G>T (p.Glu131Ter)
c.-276G>T (n.-276G>T)
2g.96253882C>GCA347651671TMEM127c.643G>C (p.Glu215Gln)
c.391G>C (p.Glu131Gln)
c.-276G>C (n.-276G>C)
 ClinVar
2g.96253882C>TCA347651661TMEM127c.643G>A (p.Glu215Lys)
c.391G>A (p.Glu131Lys)
c.-276G>A (n.-276G>A)
 ClinVar gnomAD v4
2g.96253883delCA2699997443TMEM127c.643del (p.Glu215LysfsTer?)
c.391del (p.Glu131LysfsTer?)
c.-276del (n.-276del)
 dbSNP
2g.96253883C>ACA347651678TMEM127c.642G>T (p.Met214Ile)
c.390G>T (p.Met130Ile)
c.-277G>T (n.-277G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96253883C=CA1272522039TMEM127c.642G= (p.Met214=)
c.390G= (p.Met130=)
c.-277G= (n.-277G=)
2g.96253883C>GCA347651680TMEM127c.642G>C (p.Met214Ile)
c.390G>C (p.Met130Ile)
c.-277G>C (n.-277G>C)
2g.96253883C>TCA347651689TMEM127c.642G>A (p.Met214Ile)
c.390G>A (p.Met130Ile)
c.-277G>A (n.-277G>A)
 dbSNP
2g.96253884A=CA1272522040TMEM127c.641T= (p.Met214=)
c.389T= (p.Met130=)
c.-278T= (n.-278T=)
2g.96253884A>CCA347651696TMEM127c.641T>G (p.Met214Arg)
c.389T>G (p.Met130Arg)
c.-278T>G (n.-278T>G)
 dbSNP
2g.96253884A>GCA1777265TMEM127c.641T>C (p.Met214Thr)
c.389T>C (p.Met130Thr)
c.-278T>C (n.-278T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96253884A>TCA347651699TMEM127c.641T>A (p.Met214Lys)
c.389T>A (p.Met130Lys)
c.-278T>A (n.-278T>A)
 dbSNP
2g.96253884_96253886delinsATCCA1272522041TMEM127c.639_641delinsGAT (p.Glu213=)
c.387_389delinsGAT (p.Glu129=)
c.-280_-278delinsGAT (n.-280_-278delinsGAT)
2g.96253885delCA2586964984TMEM127c.640del (p.Met214TrpfsTer?)
c.388del (p.Met130TrpfsTer?)
c.-279del (n.-279del)
2g.96253885T>ACA347651704TMEM127c.640A>T (p.Met214Leu)
c.388A>T (p.Met130Leu)
c.-279A>T (n.-279A>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.96253885T>CCA347651707TMEM127c.640A>G (p.Met214Val)
c.388A>G (p.Met130Val)
c.-279A>G (n.-279A>G)
2g.96253885T>GCA347651713TMEM127c.640A>C (p.Met214Leu)
c.388A>C (p.Met130Leu)
c.-279A>C (n.-279A>C)
2g.96253885T=CA1272522043TMEM127c.640A= (p.Met214=)
c.388A= (p.Met130=)
c.-279A= (n.-279A=)
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.96253886C>ACA347651721TMEM127c.639G>T (p.Glu213Asp)
c.387G>T (p.Glu129Asp)
c.-280G>T (n.-280G>T)
2g.96253886C=CA1272522044TMEM127c.639G= (p.Glu213=)
c.387G= (p.Glu129=)
c.-280G= (n.-280G=)
2g.96253886C>GCA347651725TMEM127c.639G>C (p.Glu213Asp)
c.387G>C (p.Glu129Asp)
c.-280G>C (n.-280G>C)
 dbSNP
2g.96253886C>TCA427807774TMEM127c.639G>A (p.Glu213=)
c.387G>A (p.Glu129=)
c.-280G>A (n.-280G>A)
 dbSNP gnomAD v2 gnomAD v4
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
2g.96253903_96254383delCA2573135942TMEM127c.410-265_625del
c.158-265_373del
c.-509-265_-294del
 ClinVar dbSNP
2g.96253901C>ACA427807804TMEM127c.624G>T (p.Leu208=)
c.372G>T (p.Leu124=)
c.-295G>T (n.-295G>T)
2g.96253901C>GCA427807805TMEM127c.624G>C (p.Leu208=)
c.372G>C (p.Leu124=)
c.-295G>C (n.-295G>C)
2g.96253901C>TCA427807807TMEM127c.624G>A (p.Leu208=)
c.372G>A (p.Leu124=)
c.-295G>A (n.-295G>A)
 ClinVar
2g.96253902A>CCA347651860TMEM127c.623T>G (p.Leu208Arg)
c.371T>G (p.Leu124Arg)
c.-296T>G (n.-296T>G)
 dbSNP
2g.96253902A>GCA347651869TMEM127c.623T>C (p.Leu208Pro)
c.371T>C (p.Leu124Pro)
c.-296T>C (n.-296T>C)
 dbSNP
2g.96253902A>TCA347651866TMEM127c.623T>A (p.Leu208Gln)
c.371T>A (p.Leu124Gln)
c.-296T>A (n.-296T>A)
 dbSNP
2g.96253903G>ACA427807808TMEM127c.622C>T (p.Leu208=)
c.370C>T (p.Leu124=)
c.-297C>T (n.-297C>T)
2g.96253903G>CCA347651871TMEM127c.622C>G (p.Leu208Val)
c.370C>G (p.Leu124Val)
c.-297C>G (n.-297C>G)
2g.96253903G>TCA347651872TMEM127c.622C>A (p.Leu208Met)
c.370C>A (p.Leu124Met)
c.-297C>A (n.-297C>A)
2g.96253904C>ACA427807809TMEM127c.621G>T (p.Ala207=)
c.369G>T (p.Ala123=)
c.-298G>T (n.-298G>T)
 dbSNP
2g.96253904C=CA1272522051TMEM127c.621G= (p.Ala207=)
c.369G= (p.Ala123=)
c.-298G= (n.-298G=)
2g.96253904C>GCA427807810TMEM127c.621G>C (p.Ala207=)
c.369G>C (p.Ala123=)
c.-298G>C (n.-298G>C)
 ClinVar dbSNP
2g.96253904C>TCA137109TMEM127c.621G>A (p.Ala207=)
c.369G>A (p.Ala123=)
c.-298G>A (n.-298G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96253905G>ACA1777268TMEM127c.620C>T (p.Ala207Val)
c.368C>T (p.Ala123Val)
c.-299C>T (n.-299C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.96253905G>CCA347651877TMEM127c.620C>G (p.Ala207Gly)
c.368C>G (p.Ala123Gly)
c.-299C>G (n.-299C>G)
2g.96253905G=CA1272522052TMEM127c.620C= (p.Ala207=)
c.368C= (p.Ala123=)
c.-299C= (n.-299C=)
2g.96253905G>TCA347651878TMEM127c.620C>A (p.Ala207Glu)
c.368C>A (p.Ala123Glu)
c.-299C>A (n.-299C>A)
 dbSNP
2g.96253906C>ACA347651879TMEM127c.619G>T (p.Ala207Ser)
c.367G>T (p.Ala123Ser)
c.-300G>T (n.-300G>T)
2g.96253906C=CA1272522053TMEM127c.619G= (p.Ala207=)
c.367G= (p.Ala123=)
c.-300G= (n.-300G=)
2g.96253906C>GCA347651882TMEM127c.619G>C (p.Ala207Pro)
c.367G>C (p.Ala123Pro)
c.-300G>C (n.-300G>C)
2g.96253906C>TCA1777269TMEM127c.619G>A (p.Ala207Thr)
c.367G>A (p.Ala123Thr)
c.-300G>A (n.-300G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96253907C>ACA347651893TMEM127c.618G>T (p.Gln206His)
c.366G>T (p.Gln122His)
c.-301G>T (n.-301G>T)
2g.96253907C>GCA347651896TMEM127c.618G>C (p.Gln206His)
c.366G>C (p.Gln122His)
c.-301G>C (n.-301G>C)
 dbSNP
2g.96253907C>TCA427807817TMEM127c.618G>A (p.Gln206=)
c.366G>A (p.Gln122=)
c.-301G>A (n.-301G>A)
 ClinVar dbSNP
2g.96253908T>ACA347651903TMEM127c.617A>T (p.Gln206Leu)
c.365A>T (p.Gln122Leu)
c.-302A>T (n.-302A>T)
 dbSNP
2g.96253908T>CCA347651908TMEM127c.617A>G (p.Gln206Arg)
c.365A>G (p.Gln122Arg)
c.-302A>G (n.-302A>G)
 dbSNP
2g.96253908T>GCA347651910TMEM127c.617A>C (p.Gln206Pro)
c.365A>C (p.Gln122Pro)
c.-302A>C (n.-302A>C)
2g.96253909G>ACA347651913TMEM127c.616C>T (p.Gln206Ter)
c.364C>T (p.Gln122Ter)
c.-303C>T (n.-303C>T)
 ClinVar dbSNP gnomAD v4
2g.96253909G>CCA347651914TMEM127c.616C>G (p.Gln206Glu)
c.364C>G (p.Gln122Glu)
c.-303C>G (n.-303C>G)
 dbSNP
2g.96253909G=CA1272522054TMEM127c.616C= (p.Gln206=)
c.364C= (p.Gln122=)
c.-303C= (n.-303C=)
2g.96253909G>TCA347651917TMEM127c.616C>A (p.Gln206Lys)
c.364C>A (p.Gln122Lys)
c.-303C>A (n.-303C>A)
 dbSNP
2g.96253910C>ACA347651918TMEM127c.615G>T (p.Glu205Asp)
c.363G>T (p.Glu121Asp)
c.-304G>T (n.-304G>T)
2g.96253910C=CA1272522055TMEM127c.615G= (p.Glu205=)
c.363G= (p.Glu121=)
c.-304G= (n.-304G=)
2g.96253910C>GCA347651919TMEM127c.615G>C (p.Glu205Asp)
c.363G>C (p.Glu121Asp)
c.-304G>C (n.-304G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96253910C>TCA427807822TMEM127c.615G>A (p.Glu205=)
c.363G>A (p.Glu121=)
c.-304G>A (n.-304G>A)
 ClinVar gnomAD v4
2g.96253911T>ACA347651920TMEM127c.614A>T (p.Glu205Val)
c.362A>T (p.Glu121Val)
c.-305A>T (n.-305A>T)
2g.96253911T>CCA347651926TMEM127c.614A>G (p.Glu205Gly)
c.362A>G (p.Glu121Gly)
c.-305A>G (n.-305A>G)
2g.96253911T>GCA347651922TMEM127c.614A>C (p.Glu205Ala)
c.362A>C (p.Glu121Ala)
c.-305A>C (n.-305A>C)
2g.96253911_96253912delinsTCCA1272522056TMEM127c.613_614delinsGA (p.Glu205=)
c.361_362delinsGA (p.Glu121=)
c.-306_-305delinsGA (n.-306_-305delinsGA)
2g.96253912C>ACA347651934TMEM127c.613G>T (p.Glu205Ter)
c.361G>T (p.Glu121Ter)
c.-306G>T (n.-306G>T)
 ClinVar dbSNP
2g.96253912C=CA1272522057TMEM127c.613G= (p.Glu205=)
c.361G= (p.Glu121=)
c.-306G= (n.-306G=)
2g.96253912C>GCA347651935TMEM127c.613G>C (p.Glu205Gln)
c.361G>C (p.Glu121Gln)
c.-306G>C (n.-306G>C)
 dbSNP
2g.96253912C>TCA347651936TMEM127c.613G>A (p.Glu205Lys)
c.361G>A (p.Glu121Lys)
c.-306G>A (n.-306G>A)
 ClinVar dbSNP gnomAD v4
2g.96253913delCA1139655614TMEM127c.613del (p.Glu205SerfsTer?)
c.361del (p.Glu121SerfsTer?)
c.-306del (n.-306del)
 ClinVar dbSNP gnomAD v4
2g.96253913C>ACA347651937TMEM127c.612G>T (p.Glu204Asp)
c.360G>T (p.Glu120Asp)
c.-307G>T (n.-307G>T)
2g.96253913C=CA1272522058TMEM127c.612G= (p.Glu204=)
c.360G= (p.Glu120=)
c.-307G= (n.-307G=)
2g.96253913C>GCA347651940TMEM127c.612G>C (p.Glu204Asp)
c.360G>C (p.Glu120Asp)
c.-307G>C (n.-307G>C)
 ClinVar dbSNP gnomAD v4
2g.96253913C>TCA427807825TMEM127c.612G>A (p.Glu204=)
c.360G>A (p.Glu120=)
c.-307G>A (n.-307G>A)
 dbSNP gnomAD v4
2g.96253914delCA2660177141TMEM127c.611del (p.Glu204GlyfsTer?)
c.359del (p.Glu120GlyfsTer?)
c.-308del (n.-308del)
 gnomAD v4
2g.96253914T>ACA347651943TMEM127c.611A>T (p.Glu204Val)
c.359A>T (p.Glu120Val)
c.-308A>T (n.-308A>T)
 dbSNP
2g.96253914T>CCA347651946TMEM127c.611A>G (p.Glu204Gly)
c.359A>G (p.Glu120Gly)
c.-308A>G (n.-308A>G)
 dbSNP
2g.96253914T>GCA347651947TMEM127c.611A>C (p.Glu204Ala)
c.359A>C (p.Glu120Ala)
c.-308A>C (n.-308A>C)
2g.96253915C>ACA347651948TMEM127c.610G>T (p.Glu204Ter)
c.358G>T (p.Glu120Ter)
c.-309G>T (n.-309G>T)
2g.96253915C=CA1272522059TMEM127c.610G= (p.Glu204=)
c.358G= (p.Glu120=)
c.-309G= (n.-309G=)
2g.96253915C>GCA347651950TMEM127c.610G>C (p.Glu204Gln)
c.358G>C (p.Glu120Gln)
c.-309G>C (n.-309G>C)
 dbSNP
2g.96253915C>TCA1777270TMEM127c.610G>A (p.Glu204Lys)
c.358G>A (p.Glu120Lys)
c.-309G>A (n.-309G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96253916T>ACA347651965TMEM127c.609A>T (p.Glu203Asp)
c.357A>T (p.Glu119Asp)
c.-310A>T (n.-310A>T)
2g.96253916T>CCA1777271TMEM127c.609A>G (p.Glu203=)
c.357A>G (p.Glu119=)
c.-310A>G (n.-310A>G)
 ClinVar dbSNP ExAC
2g.96253916T>GCA347651953TMEM127c.609A>C (p.Glu203Asp)
c.357A>C (p.Glu119Asp)
c.-310A>C (n.-310A>C)
2g.96253916T=CA1272522060TMEM127c.609A= (p.Glu203=)
c.357A= (p.Glu119=)
c.-310A= (n.-310A=)
2g.96253917T>ACA347651975TMEM127c.608A>T (p.Glu203Val)
c.356A>T (p.Glu119Val)
c.-311A>T (n.-311A>T)
2g.96253917T>CCA347651969TMEM127c.608A>G (p.Glu203Gly)
c.356A>G (p.Glu119Gly)
c.-311A>G (n.-311A>G)
 dbSNP
2g.96253917T>GCA347651971TMEM127c.608A>C (p.Glu203Ala)
c.356A>C (p.Glu119Ala)
c.-311A>C (n.-311A>C)
 ClinVar
2g.96253918C>ACA347651981TMEM127c.607G>T (p.Glu203Ter)
c.355G>T (p.Glu119Ter)
c.-312G>T (n.-312G>T)
 dbSNP
2g.96253918C>GCA347651982TMEM127c.607G>C (p.Glu203Gln)
c.355G>C (p.Glu119Gln)
c.-312G>C (n.-312G>C)
 dbSNP
2g.96253918C>TCA347651996TMEM127c.607G>A (p.Glu203Lys)
c.355G>A (p.Glu119Lys)
c.-312G>A (n.-312G>A)
 ClinVar dbSNP
2g.96253919C>ACA52411971TMEM127c.606G>T (p.Glu202Asp)
c.354G>T (p.Glu118Asp)
c.-313G>T (n.-313G>T)
 dbSNP
2g.96253919C=CA1272522061TMEM127c.606G= (p.Glu202=)
c.354G= (p.Glu118=)
c.-313G= (n.-313G=)
2g.96253919C>GCA347652002TMEM127c.606G>C (p.Glu202Asp)
c.354G>C (p.Glu118Asp)
c.-313G>C (n.-313G>C)
 dbSNP
2g.96253919C>TCA1777272TMEM127c.606G>A (p.Glu202=)
c.354G>A (p.Glu118=)
c.-313G>A (n.-313G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.96253920T>ACA347652007TMEM127c.605A>T (p.Glu202Val)
c.353A>T (p.Glu118Val)
c.-314A>T (n.-314A>T)
2g.96253920T>CCA347652008TMEM127c.605A>G (p.Glu202Gly)
c.353A>G (p.Glu118Gly)
c.-314A>G (n.-314A>G)
 ClinVar
2g.96253920T>GCA347652015TMEM127c.605A>C (p.Glu202Ala)
c.353A>C (p.Glu118Ala)
c.-314A>C (n.-314A>C)
2g.96253921C>ACA347652017TMEM127c.604G>T (p.Glu202Ter)
c.352G>T (p.Glu118Ter)
c.-315G>T (n.-315G>T)
2g.96253921C=CA1272522062TMEM127c.604G= (p.Glu202=)
c.352G= (p.Glu118=)
c.-315G= (n.-315G=)
2g.96253921C>GCA347652018TMEM127c.604G>C (p.Glu202Gln)
c.352G>C (p.Glu118Gln)
c.-315G>C (n.-315G>C)
 dbSNP
2g.96253921C>TCA347652022TMEM127c.604G>A (p.Glu202Lys)
c.352G>A (p.Glu118Lys)
c.-315G>A (n.-315G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.96253922T>ACA427807834TMEM127c.603A>T (p.Thr201=)
c.351A>T (p.Thr117=)
c.-316A>T (n.-316A>T)
2g.96253922T>CCA427807833TMEM127c.603A>G (p.Thr201=)
c.351A>G (p.Thr117=)
c.-316A>G (n.-316A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.96253922T>GCA427807832TMEM127c.603A>C (p.Thr201=)
c.351A>C (p.Thr117=)
c.-316A>C (n.-316A>C)
 ClinVar dbSNP
2g.96253922T=CA1272522063TMEM127c.603A= (p.Thr201=)
c.351A= (p.Thr117=)
c.-316A= (n.-316A=)
2g.96253923G>ACA347652026TMEM127c.602C>T (p.Thr201Ile)
c.350C>T (p.Thr117Ile)
c.-317C>T (n.-317C>T)
 dbSNP
2g.96253923G>CCA347652030TMEM127c.602C>G (p.Thr201Arg)
c.350C>G (p.Thr117Arg)
c.-317C>G (n.-317C>G)
 dbSNP
2g.96253923G>TCA347652028TMEM127c.602C>A (p.Thr201Lys)
c.350C>A (p.Thr117Lys)
c.-317C>A (n.-317C>A)
2g.96253924T>ACA347652033TMEM127c.601A>T (p.Thr201Ser)
c.349A>T (p.Thr117Ser)
c.-318A>T (n.-318A>T)
 ClinVar dbSNP gnomAD v4
2g.96253924T>CCA347652035TMEM127c.601A>G (p.Thr201Ala)
c.349A>G (p.Thr117Ala)
c.-318A>G (n.-318A>G)
 ClinVar dbSNP
2g.96253924T>GCA347652036TMEM127c.601A>C (p.Thr201Pro)
c.349A>C (p.Thr117Pro)
c.-318A>C (n.-318A>C)
2g.96253924T=CA1272522064TMEM127c.601A= (p.Thr201=)
c.349A= (p.Thr117=)
c.-318A= (n.-318A=)
2g.96253925G>ACA427807836TMEM127c.600C>T (p.Pro200=)
c.348C>T (p.Pro116=)
c.-319C>T (n.-319C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.96253925G>CCA427807837TMEM127c.600C>G (p.Pro200=)
c.348C>G (p.Pro116=)
c.-319C>G (n.-319C>G)
 dbSNP gnomAD v4
2g.96253925G=CA1272522065TMEM127c.600C= (p.Pro200=)
c.348C= (p.Pro116=)
c.-319C= (n.-319C=)
2g.96253925G>TCA16611030TMEM127c.600C>A (p.Pro200=)
c.348C>A (p.Pro116=)
c.-319C>A (n.-319C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.96253926G>ACA347652038TMEM127c.599C>T (p.Pro200Leu)
c.347C>T (p.Pro116Leu)
c.-320C>T (n.-320C>T)
2g.96253926G>CCA347652041TMEM127c.599C>G (p.Pro200Arg)
c.347C>G (p.Pro116Arg)
c.-320C>G (n.-320C>G)
2g.96253926G>TCA347652046TMEM127c.599C>A (p.Pro200His)
c.347C>A (p.Pro116His)
c.-320C>A (n.-320C>A)
2g.96253927G>ACA52411978TMEM127c.598C>T (p.Pro200Ser)
c.346C>T (p.Pro116Ser)
c.-321C>T (n.-321C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96253927G>CCA347652050TMEM127c.598C>G (p.Pro200Ala)
c.346C>G (p.Pro116Ala)
c.-321C>G (n.-321C>G)
 dbSNP
2g.96253927G=CA1272522066TMEM127c.598C= (p.Pro200=)
c.346C= (p.Pro116=)
c.-321C= (n.-321C=)
2g.96253927G>TCA1777273TMEM127c.598C>A (p.Pro200Thr)
c.346C>A (p.Pro116Thr)
c.-321C>A (n.-321C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96253928G>ACA427807839TMEM127c.597C>T (p.Tyr199=)
c.345C>T (p.Tyr115=)
c.-322C>T (n.-322C>T)
 ClinVar dbSNP
2g.96253928G>CCA347652051TMEM127c.597C>G (p.Tyr199Ter)
c.345C>G (p.Tyr115Ter)
c.-322C>G (n.-322C>G)
2g.96253928G=CA1272522067TMEM127c.597C= (p.Tyr199=)
c.345C= (p.Tyr115=)
c.-322C= (n.-322C=)
2g.96253928G>TCA347652052TMEM127c.597C>A (p.Tyr199Ter)
c.345C>A (p.Tyr115Ter)
c.-322C>A (n.-322C>A)
 ClinVar dbSNP
2g.96253929T>ACA347652057TMEM127c.596A>T (p.Tyr199Phe)
c.344A>T (p.Tyr115Phe)
c.-323A>T (n.-323A>T)
 ClinVar dbSNP
2g.96253929T>CCA347652072TMEM127c.596A>G (p.Tyr199Cys)
c.344A>G (p.Tyr115Cys)
c.-323A>G (n.-323A>G)
 dbSNP
2g.96253929T>GCA347652054TMEM127c.596A>C (p.Tyr199Ser)
c.344A>C (p.Tyr115Ser)
c.-323A>C (n.-323A>C)
 dbSNP
2g.96253929T=CA1272522068TMEM127c.596A= (p.Tyr199=)
c.344A= (p.Tyr115=)
c.-323A= (n.-323A=)
2g.96253930A>CCA347652083TMEM127c.595T>G (p.Tyr199Asp)
c.343T>G (p.Tyr115Asp)
c.-324T>G (n.-324T>G)
2g.96253930A>GCA347652086TMEM127c.595T>C (p.Tyr199His)
c.343T>C (p.Tyr115His)
c.-324T>C (n.-324T>C)
 dbSNP
2g.96253930A>TCA347652085TMEM127c.595T>A (p.Tyr199Asn)
c.343T>A (p.Tyr115Asn)
c.-324T>A (n.-324T>A)
 dbSNP
2g.96253931G>ACA427807841TMEM127c.594C>T (p.His198=)
c.342C>T (p.His114=)
c.-325C>T (n.-325C>T)
 dbSNP
2g.96253931G>CCA347652088TMEM127c.594C>G (p.His198Gln)
c.342C>G (p.His114Gln)
c.-325C>G (n.-325C>G)
 ClinVar dbSNP
2g.96253931G>TCA347652089TMEM127c.594C>A (p.His198Gln)
c.342C>A (p.His114Gln)
c.-325C>A (n.-325C>A)
2g.96253932T>ACA347652092TMEM127c.593A>T (p.His198Leu)
c.341A>T (p.His114Leu)
c.-326A>T (n.-326A>T)
2g.96253932T>CCA347652095TMEM127c.593A>G (p.His198Arg)
c.341A>G (p.His114Arg)
c.-326A>G (n.-326A>G)
 ClinVar
2g.96253932T>GCA347652098TMEM127c.593A>C (p.His198Pro)
c.341A>C (p.His114Pro)
c.-326A>C (n.-326A>C)
2g.96253933G>ACA347652102TMEM127c.592C>T (p.His198Tyr)
c.340C>T (p.His114Tyr)
c.-327C>T (n.-327C>T)
2g.96253933G>CCA347652123TMEM127c.592C>G (p.His198Asp)
c.340C>G (p.His114Asp)
c.-327C>G (n.-327C>G)
2g.96253933G>TCA347652127TMEM127c.592C>A (p.His198Asn)
c.340C>A (p.His114Asn)
c.-327C>A (n.-327C>A)
2g.96253934G>ACA427807845TMEM127c.591C>T (p.Arg197=)
c.339C>T (p.Arg113=)
c.-328C>T (n.-328C>T)
 ClinVar dbSNP
2g.96253934G>CCA427807846TMEM127c.591C>G (p.Arg197=)
c.339C>G (p.Arg113=)
c.-328C>G (n.-328C>G)
 dbSNP
2g.96253934G>TCA427807847TMEM127c.591C>A (p.Arg197=)
c.339C>A (p.Arg113=)
c.-328C>A (n.-328C>A)
 dbSNP
2g.96253935C>ACA347652137TMEM127c.590G>T (p.Arg197Leu)
c.338G>T (p.Arg113Leu)
c.-329G>T (n.-329G>T)
 dbSNP
2g.96253935C=CA1272522069TMEM127c.590G= (p.Arg197=)
c.338G= (p.Arg113=)
c.-329G= (n.-329G=)
2g.96253935C>GCA347652139TMEM127c.590G>C (p.Arg197Pro)
c.338G>C (p.Arg113Pro)
c.-329G>C (n.-329G>C)
 dbSNP
2g.96253935C>TCA347652142TMEM127c.590G>A (p.Arg197His)
c.338G>A (p.Arg113His)
c.-329G>A (n.-329G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.96253936G>ACA1777274TMEM127c.589C>T (p.Arg197Cys)
c.337C>T (p.Arg113Cys)
c.-330C>T (n.-330C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.96253936G>CCA347652148TMEM127c.589C>G (p.Arg197Gly)
c.337C>G (p.Arg113Gly)
c.-330C>G (n.-330C>G)
 dbSNP
2g.96253936G=CA1272522070TMEM127c.589C= (p.Arg197=)
c.337C= (p.Arg113=)
c.-330C= (n.-330C=)
2g.96253936G>TCA347652146TMEM127c.589C>A (p.Arg197Ser)
c.337C>A (p.Arg113Ser)
c.-330C>A (n.-330C>A)
 dbSNP
2g.96253937C>ACA427807849TMEM127c.588G>T (p.Leu196=)
c.336G>T (p.Leu112=)
c.-331G>T (n.-331G>T)
 gnomAD v4
2g.96253937C=CA1272522071TMEM127c.588G= (p.Leu196=)
c.336G= (p.Leu112=)
c.-331G= (n.-331G=)
2g.96253937C>GCA427807850TMEM127c.588G>C (p.Leu196=)
c.336G>C (p.Leu112=)
c.-331G>C (n.-331G>C)
 dbSNP gnomAD v4
2g.96253937C>TCA427807852TMEM127c.588G>A (p.Leu196=)
c.336G>A (p.Leu112=)
c.-331G>A (n.-331G>A)
 ClinVar dbSNP
2g.96253938A=CA1272522072TMEM127c.587T= (p.Leu196=)
c.335T= (p.Leu112=)
c.-332T= (n.-332T=)
2g.96253938A>CCA347652163TMEM127c.587T>G (p.Leu196Arg)
c.335T>G (p.Leu112Arg)
c.-332T>G (n.-332T>G)
 ClinVar dbSNP
2g.96253938A>GCA347652165TMEM127c.587T>C (p.Leu196Pro)
c.335T>C (p.Leu112Pro)
c.-332T>C (n.-332T>C)
 dbSNP gnomAD v4
2g.96253938A>TCA347652168TMEM127c.587T>A (p.Leu196Gln)
c.335T>A (p.Leu112Gln)
c.-332T>A (n.-332T>A)
 dbSNP
2g.96253939G>ACA427807855TMEM127c.586C>T (p.Leu196=)
c.334C>T (p.Leu112=)
c.-333C>T (n.-333C>T)
 ClinVar dbSNP
2g.96253939G>CCA347652172TMEM127c.586C>G (p.Leu196Val)
c.334C>G (p.Leu112Val)
c.-333C>G (n.-333C>G)
 dbSNP
2g.96253939G>TCA347652175TMEM127c.586C>A (p.Leu196Met)
c.334C>A (p.Leu112Met)
c.-333C>A (n.-333C>A)
2g.96253940G>ACA1777275TMEM127c.585C>T (p.Leu195=)
c.333C>T (p.Leu111=)
c.-334C>T (n.-334C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96253940G>CCA427807857TMEM127c.585C>G (p.Leu195=)
c.333C>G (p.Leu111=)
c.-334C>G (n.-334C>G)
 dbSNP
2g.96253940G=CA1272522073TMEM127c.585C= (p.Leu195=)
c.333C= (p.Leu111=)
c.-334C= (n.-334C=)
2g.96253940G>TCA427807856TMEM127c.585C>A (p.Leu195=)
c.333C>A (p.Leu111=)
c.-334C>A (n.-334C>A)
2g.96253941A=CA1272522075TMEM127c.584T= (p.Leu195=)
c.332T= (p.Leu111=)
c.-335T= (n.-335T=)
2g.96253941A>CCA347652180TMEM127c.584T>G (p.Leu195Arg)
c.332T>G (p.Leu111Arg)
c.-335T>G (n.-335T>G)
 ClinVar dbSNP
2g.96253941A>GCA347652184TMEM127c.584T>C (p.Leu195Pro)
c.332T>C (p.Leu111Pro)
c.-335T>C (n.-335T>C)
 ClinVar dbSNP gnomAD v4
2g.96253941A>TCA347652188TMEM127c.584T>A (p.Leu195His)
c.332T>A (p.Leu111His)
c.-335T>A (n.-335T>A)
 dbSNP
2g.96253941_96253946delinsAGGTTGCA1272522074TMEM127c.579_584delinsCAACCT (p.Ala193=)
c.327_332delinsCAACCT (p.Ala109=)
c.-340_-335delinsCAACCT (n.-340_-335delinsCAACCT)
2g.96253942G>ACA347652193TMEM127c.583C>T (p.Leu195Phe)
c.331C>T (p.Leu111Phe)
c.-336C>T (n.-336C>T)
 ClinVar dbSNP
2g.96253942G>CCA347652195TMEM127c.583C>G (p.Leu195Val)
c.331C>G (p.Leu111Val)
c.-336C>G (n.-336C>G)
2g.96253942G>TCA347652204TMEM127c.583C>A (p.Leu195Ile)
c.331C>A (p.Leu111Ile)
c.-336C>A (n.-336C>A)
2g.96253943_96253947delCA916602735TMEM127c.579_583del (p.Asn194ProfsTer?)
c.327_331del (p.Asn110ProfsTer?)
c.-340_-336del (n.-340_-336del)
 dbSNP
2g.96253943G>ACA427807863TMEM127c.582C>T (p.Asn194=)
c.330C>T (p.Asn110=)
c.-337C>T (n.-337C>T)
 ClinVar dbSNP
2g.96253943G>CCA347652207TMEM127c.582C>G (p.Asn194Lys)
c.330C>G (p.Asn110Lys)
c.-337C>G (n.-337C>G)
2g.96253943G>TCA347652210TMEM127c.582C>A (p.Asn194Lys)
c.330C>A (p.Asn110Lys)
c.-337C>A (n.-337C>A)
 gnomAD v4
2g.96253944T>ACA347652213TMEM127c.581A>T (p.Asn194Ile)
c.329A>T (p.Asn110Ile)
c.-338A>T (n.-338A>T)
 dbSNP
2g.96253944T>CCA347652216TMEM127c.581A>G (p.Asn194Ser)
c.329A>G (p.Asn110Ser)
c.-338A>G (n.-338A>G)
 dbSNP
2g.96253944T>GCA347652219TMEM127c.581A>C (p.Asn194Thr)
c.329A>C (p.Asn110Thr)
c.-338A>C (n.-338A>C)
 dbSNP
2g.96253944T=CA1272522076TMEM127c.581A= (p.Asn194=)
c.329A= (p.Asn110=)
c.-338A= (n.-338A=)
2g.96253945T>ACA347652223TMEM127c.580A>T (p.Asn194Tyr)
c.328A>T (p.Asn110Tyr)
c.-339A>T (n.-339A>T)
2g.96253945T>CCA347652224TMEM127c.580A>G (p.Asn194Asp)
c.328A>G (p.Asn110Asp)
c.-339A>G (n.-339A>G)
 dbSNP
2g.96253945T>GCA347652227TMEM127c.580A>C (p.Asn194His)
c.328A>C (p.Asn110His)
c.-339A>C (n.-339A>C)
2g.96253946G>ACA427807869TMEM127c.579C>T (p.Ala193=)
c.327C>T (p.Ala109=)
c.-340C>T (n.-340C>T)
2g.96253946G>CCA427807865TMEM127c.579C>G (p.Ala193=)
c.327C>G (p.Ala109=)
c.-340C>G (n.-340C>G)
2g.96253946G>TCA427807867TMEM127c.579C>A (p.Ala193=)
c.327C>A (p.Ala109=)
c.-340C>A (n.-340C>A)
 dbSNP gnomAD v4
2g.96253947G>ACA347652230TMEM127c.578C>T (p.Ala193Val)
c.326C>T (p.Ala109Val)
c.-341C>T (n.-341C>T)
 dbSNP
2g.96253947G>CCA347652238TMEM127c.578C>G (p.Ala193Gly)
c.326C>G (p.Ala109Gly)
c.-341C>G (n.-341C>G)
 dbSNP
2g.96253947G>TCA347652241TMEM127c.578C>A (p.Ala193Asp)
c.326C>A (p.Ala109Asp)
c.-341C>A (n.-341C>A)
 dbSNP
2g.96253948C>ACA347652244TMEM127c.577G>T (p.Ala193Ser)
c.325G>T (p.Ala109Ser)
c.-342G>T (n.-342G>T)
 dbSNP
2g.96253948C=CA1272522077TMEM127c.577G= (p.Ala193=)
c.325G= (p.Ala109=)
c.-342G= (n.-342G=)
2g.96253948C>GCA347652245TMEM127c.577G>C (p.Ala193Pro)
c.325G>C (p.Ala109Pro)
c.-342G>C (n.-342G>C)
 dbSNP
2g.96253948C>TCA347652262TMEM127c.577G>A (p.Ala193Thr)
c.325G>A (p.Ala109Thr)
c.-342G>A (n.-342G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96253949T>ACA427807872TMEM127c.576A>T (p.Ala192=)
c.324A>T (p.Ala108=)
c.-343A>T (n.-343A>T)
 dbSNP
2g.96253949T>CCA427807873TMEM127c.576A>G (p.Ala192=)
c.324A>G (p.Ala108=)
c.-343A>G (n.-343A>G)
2g.96253949T>GCA427807874TMEM127c.576A>C (p.Ala192=)
c.324A>C (p.Ala108=)
c.-343A>C (n.-343A>C)
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

Number of alleles fetched