Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.96265164C>A | CA347655874 | TMEM127 | c.218G>T (p.Gly73Val) | |
2 | g.96265164C= | CA1272526939 | TMEM127 | c.218G= (p.Gly73=) | |
2 | g.96265164C>G | CA347655875 | TMEM127 | c.218G>C (p.Gly73Ala) | ClinVar dbSNP |
2 | g.96265164C>T | CA347655876 | TMEM127 | c.218G>A (p.Gly73Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.96265166del | CA2499216307 | TMEM127 | c.218del (p.Gly73AlafsTer8) | ClinVar dbSNP |
2 | g.96265165C>A | CA347655877 | TMEM127 | c.217G>T (p.Gly73Cys) | dbSNP |
2 | g.96265165C= | CA1272526940 | TMEM127 | c.217G= (p.Gly73=) | |
2 | g.96265165C>G | CA269743 | TMEM127 | c.217G>C (p.Gly73Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96265165C>T | CA347655878 | TMEM127 | c.217G>A (p.Gly73Ser) | |
2 | g.96265166C>A | CA347655879 | TMEM127 | c.216G>T (p.Leu72Phe) | |
2 | g.96265166C>G | CA347655880 | TMEM127 | c.216G>C (p.Leu72Phe) | |
2 | g.96265166C>T | CA427496279 | TMEM127 | c.216G>A (p.Leu72=) | ClinVar gnomAD v4 |
2 | g.96265167A>C | CA347655881 | TMEM127 | c.215T>G (p.Leu72Trp) | |
2 | g.96265167A>G | CA347655882 | TMEM127 | c.215T>C (p.Leu72Ser) | |
2 | g.96265167A>T | CA347655883 | TMEM127 | c.215T>A (p.Leu72Ter) | gnomAD v4 |
2 | g.96265168A= | CA1272526941 | TMEM127 | c.214T= (p.Leu72=) | |
2 | g.96265168A>C | CA347655884 | TMEM127 | c.214T>G (p.Leu72Val) | |
2 | g.96265168A>G | CA427496283 | TMEM127 | c.214T>C (p.Leu72=) | ClinVar dbSNP gnomAD v4 |
2 | g.96265168A>T | CA347655885 | TMEM127 | c.214T>A (p.Leu72Met) | ClinVar |
2 | g.96265169C>A | CA427496284 | TMEM127 | c.213G>T (p.Val71=) | ClinVar dbSNP |
2 | g.96265169C= | CA1272526942 | TMEM127 | c.213G= (p.Val71=) | |
2 | g.96265169C>G | CA427496285 | TMEM127 | c.213G>C (p.Val71=) | |
2 | g.96265169C>T | CA1777382 | TMEM127 | c.213G>A (p.Val71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96265170A= | CA1272526944 | TMEM127 | c.212T= (p.Val71=) | |
2 | g.96265170A>C | CA347655888 | TMEM127 | c.212T>G (p.Val71Gly) | |
2 | g.96265170A>G | CA347655886 | TMEM127 | c.212T>C (p.Val71Ala) | ClinVar |
2 | g.96265170A>T | CA347655887 | TMEM127 | c.212T>A (p.Val71Glu) | ClinVar dbSNP |
2 | g.96265170dup | CA2660176357 | TMEM127 | c.212dup (p.Leu72ValfsTer?) | gnomAD v4 |
2 | g.96265170_96265171delinsAC | CA1272526943 | TMEM127 | c.211_212delinsGT (p.Val71=) | |
2 | g.96265171del | CA534634974 | TMEM127 | c.211del (p.Val71CysfsTer10) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.96265171C>A | CA347655889 | TMEM127 | c.211G>T (p.Val71Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.96265171C= | CA1272526945 | TMEM127 | c.211G= (p.Val71=) | |
2 | g.96265171C>G | CA1777383 | TMEM127 | c.211G>C (p.Val71Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96265171C>T | CA52419046 | TMEM127 | c.211G>A (p.Val71Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96265172G>A | CA427496286 | TMEM127 | c.210C>T (p.Asp70=) | ClinVar dbSNP gnomAD v4 |
2 | g.96265172G>C | CA347655890 | TMEM127 | c.210C>G (p.Asp70Glu) | |
2 | g.96265172G= | CA1272526946 | TMEM127 | c.210C= (p.Asp70=) | |
2 | g.96265172G>T | CA347655891 | TMEM127 | c.210C>A (p.Asp70Glu) | |
2 | g.96265173T>A | CA347655892 | TMEM127 | c.209A>T (p.Asp70Val) | dbSNP |
2 | g.96265173T>C | CA347655893 | TMEM127 | c.209A>G (p.Asp70Gly) | |
2 | g.96265173T>G | CA347655894 | TMEM127 | c.209A>C (p.Asp70Ala) | |
2 | g.96265174del | CA2580068307 | TMEM127 | c.208del (p.Asp70ThrfsTer11) | ClinVar |
2 | g.96265174C>A | CA347655895 | TMEM127 | c.208G>T (p.Asp70Tyr) | |
2 | g.96265174C= | CA1272526947 | TMEM127 | c.208G= (p.Asp70=) | |
2 | g.96265174C>G | CA347655896 | TMEM127 | c.208G>C (p.Asp70His) | dbSNP |
2 | g.96265174C>T | CA269740 | TMEM127 | c.208G>A (p.Asp70Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96265175G>A | CA427496287 | TMEM127 | c.207C>T (p.Ser69=) | dbSNP |
2 | g.96265175G>C | CA427496288 | TMEM127 | c.207C>G (p.Ser69=) | |
2 | g.96265175G= | CA1272526948 | TMEM127 | c.207C= (p.Ser69=) | |
2 | g.96265175G>T | CA427496289 | TMEM127 | c.207C>A (p.Ser69=) | gnomAD v4 |