| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133352506_133352523del | CA2695211588 | SURF1 | c.677_694del (p.His226_Asp231del) n.587_604del n.667_684del c.350_367del (p.His117_Asp122del) | |
| 9 | g.133352516C>A | CA375693742 | SURF1 | c.681G>T (p.Trp227Cys) n.591G>T n.671G>T c.354G>T (p.Trp118Cys) | |
| 9 | g.133352516C= | CA1882634157 | SURF1 | c.681G= (p.Trp227=) n.591G= n.671G= c.354G= (p.Trp118=) | |
| 9 | g.133352516C>G | CA375693743 | SURF1 | c.681G>C (p.Trp227Cys) n.591G>C n.671G>C c.354G>C (p.Trp118Cys) | |
| 9 | g.133352516C>T | CA16605403 | SURF1 | c.681G>A (p.Trp227Ter) n.591G>A n.671G>A c.354G>A (p.Trp118Ter) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133352517C>A | CA375693744 | SURF1 | c.680G>T (p.Trp227Leu) n.590G>T n.670G>T c.353G>T (p.Trp118Leu) | |
| 9 | g.133352517C>G | CA375693745 | SURF1 | c.680G>C (p.Trp227Ser) n.590G>C n.670G>C c.353G>C (p.Trp118Ser) | |
| 9 | g.133352517C>T | CA375693746 | SURF1 | c.680G>A (p.Trp227Ter) n.590G>A n.670G>A c.353G>A (p.Trp118Ter) | gnomAD v4 |
| 9 | g.133352518A= | CA1882634161 | SURF1 | c.679T= (p.Trp227=) n.589T= n.669T= c.352T= (p.Trp118=) | |
| 9 | g.133352518A>C | CA375693748 | SURF1 | c.679T>G (p.Trp227Gly) n.589T>G n.669T>G c.352T>G (p.Trp118Gly) | |
| 9 | g.133352518A>G | CA128719 | SURF1 | c.679T>C (p.Trp227Arg) n.589T>C n.669T>C c.352T>C (p.Trp118Arg) | ClinVar dbSNP |
| 9 | g.133352518A>T | CA375693747 | SURF1 | c.679T>A (p.Trp227Arg) n.589T>A n.669T>A c.352T>A (p.Trp118Arg) | ClinVar dbSNP |
| 9 | g.133352519G>A | CA2573144047 | SURF1 | c.678C>T (p.His226=) n.588C>T n.668C>T c.351C>T (p.His117=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133352519G>C | CA375693749 | SURF1 | c.678C>G (p.His226Gln) n.588C>G n.668C>G c.351C>G (p.His117Gln) | |
| 9 | g.133352519G>T | CA375693750 | SURF1 | c.678C>A (p.His226Gln) n.588C>A n.668C>A c.351C>A (p.His117Gln) | gnomAD v4 |
| 9 | g.133352520T>A | CA375693751 | SURF1 | c.677A>T (p.His226Leu) n.587A>T n.667A>T c.350A>T (p.His117Leu) | |
| 9 | g.133352520T>C | CA375693752 | SURF1 | c.677A>G (p.His226Arg) n.587A>G n.667A>G c.350A>G (p.His117Arg) | |
| 9 | g.133352520T>G | CA375693753 | SURF1 | c.677A>C (p.His226Pro) n.587A>C n.667A>C c.350A>C (p.His117Pro) | |
| 9 | g.133352521G>A | CA375693754 | SURF1 | c.676C>T (p.His226Tyr) n.586C>T n.666C>T c.349C>T (p.His117Tyr) | gnomAD v4 |
| 9 | g.133352521G>C | CA375693755 | SURF1 | c.676C>G (p.His226Asp) n.586C>G n.666C>G c.349C>G (p.His117Asp) | |
| 9 | g.133352521G>T | CA375693756 | SURF1 | c.676C>A (p.His226Asn) n.586C>A n.666C>A c.349C>A (p.His117Asn) | |
| 9 | g.133352522G>A | CA2692339089 | SURF1 | c.675C>T (p.Asn225=) n.585C>T n.665C>T c.348C>T (p.Asn116=) | gnomAD v4 |
| 9 | g.133352522G>C | CA375693757 | SURF1 | c.675C>G (p.Asn225Lys) n.585C>G n.665C>G c.348C>G (p.Asn116Lys) | |
| 9 | g.133352522G>T | CA375693758 | SURF1 | c.675C>A (p.Asn225Lys) n.585C>A n.665C>A c.348C>A (p.Asn116Lys) | |
| 9 | g.133352523T>A | CA375693759 | SURF1 | c.674A>T (p.Asn225Ile) n.584A>T n.664A>T c.347A>T (p.Asn116Ile) | |
| 9 | g.133352523T>C | CA375693760 | SURF1 | c.674A>G (p.Asn225Ser) n.584A>G n.664A>G c.347A>G (p.Asn116Ser) | |
| 9 | g.133352523T>G | CA375693761 | SURF1 | c.674A>C (p.Asn225Thr) n.584A>C n.664A>C c.347A>C (p.Asn116Thr) | |
| 9 | g.133352524T>A | CA375693763 | SURF1 | c.673A>T (p.Asn225Tyr) n.583A>T n.663A>T c.346A>T (p.Asn116Tyr) | |
| 9 | g.133352524T>C | CA375693764 | SURF1 | c.673A>G (p.Asn225Asp) n.583A>G n.663A>G c.346A>G (p.Asn116Asp) | |
| 9 | g.133352524T>G | CA375693762 | SURF1 | c.673A>C (p.Asn225His) n.583A>C n.663A>C c.346A>C (p.Asn116His) | |
| 9 | g.133352525C>A | CA375693766 | SURF1 | c.672G>T (p.Arg224Ser) n.582G>T n.662G>T c.345G>T (p.Arg115Ser) | |
| 9 | g.133352525C>G | CA375693765 | SURF1 | c.672G>C (p.Arg224Ser) n.582G>C n.662G>C c.345G>C (p.Arg115Ser) | |
| 9 | g.133352525C>T | CA2579498334 | SURF1 | c.672G>A (p.Arg224=) n.582G>A n.662G>A c.345G>A (p.Arg115=) | |
| 9 | g.133352526C>A | CA375693767 | SURF1 | c.671G>T (p.Arg224Met) n.581G>T n.661G>T c.344G>T (p.Arg115Met) | |
| 9 | g.133352526C>G | CA375693768 | SURF1 | c.671G>C (p.Arg224Thr) n.581G>C n.661G>C c.344G>C (p.Arg115Thr) | |
| 9 | g.133352526C>T | CA375693769 | SURF1 | c.671G>A (p.Arg224Lys) n.581G>A n.661G>A c.344G>A (p.Arg115Lys) | |
| 9 | g.133352527T>A | CA375693770 | SURF1 | c.670A>T (p.Arg224Trp) n.580A>T n.660A>T c.343A>T (p.Arg115Trp) | |
| 9 | g.133352527T>C | CA200832375 | SURF1 | c.670A>G (p.Arg224Gly) n.580A>G n.660A>G c.343A>G (p.Arg115Gly) | dbSNP dbSNP gnomAD v4 |
| 9 | g.133352527T= | CA1882634166 | SURF1 | c.670A= (p.Arg224=) n.580A= n.660A= c.343A= (p.Arg115=) | |
| 9 | g.133352528T>A | CA375693772 | SURF1 | c.669A>T (p.Glu223Asp) n.579A>T n.659A>T c.342A>T (p.Glu114Asp) | |
| 9 | g.133352528T>G | CA375693771 | SURF1 | c.669A>C (p.Glu223Asp) n.579A>C n.659A>C c.342A>C (p.Glu114Asp) | gnomAD v4 |
| 9 | g.133352529T>A | CA375693773 | SURF1 | c.668A>T (p.Glu223Val) n.578A>T n.658A>T c.341A>T (p.Glu114Val) | |
| 9 | g.133352529T>C | CA200832378 | SURF1 | c.668A>G (p.Glu223Gly) n.578A>G n.658A>G c.341A>G (p.Glu114Gly) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352529T>G | CA375693774 | SURF1 | c.668A>C (p.Glu223Ala) n.578A>C n.658A>C c.341A>C (p.Glu114Ala) | |
| 9 | g.133352529T= | CA1882634168 | SURF1 | c.668A= (p.Glu223=) n.578A= n.658A= c.341A= (p.Glu114=) | |
| 9 | g.133352530C>A | CA375693775 | SURF1 | c.667G>T (p.Glu223Ter) n.577G>T n.657G>T c.340G>T (p.Glu114Ter) | |
| 9 | g.133352530C>G | CA375693776 | SURF1 | c.667G>C (p.Glu223Gln) n.577G>C n.657G>C c.340G>C (p.Glu114Gln) | |
| 9 | g.133352530C>T | CA375693777 | SURF1 | c.667G>A (p.Glu223Lys) n.577G>A n.657G>A c.340G>A (p.Glu114Lys) | |
| 9 | g.133352532G>A | CA375693780 | SURF1 | c.665C>T (p.Pro222Leu) n.575C>T n.655C>T c.338C>T (p.Pro113Leu) | gnomAD v4 |
| 9 | g.133352532G>C | CA375693778 | SURF1 | c.665C>G (p.Pro222Arg) n.575C>G n.655C>G c.338C>G (p.Pro113Arg) | ClinVar gnomAD v4 |