UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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 |
| 9 | g.133352532G>T | CA375693779 | SURF1 | c.665C>A (p.Pro222Gln) n.575C>A n.655C>A c.338C>A (p.Pro113Gln) | |
| 9 | g.133352533G>A | CA375693781 | SURF1 | c.664C>T (p.Pro222Ser) n.574C>T n.654C>T c.337C>T (p.Pro113Ser) | dbSNP dbSNP gnomAD v4 |
| 9 | g.133352533G>C | CA375693782 | SURF1 | c.664C>G (p.Pro222Ala) n.574C>G n.654C>G c.337C>G (p.Pro113Ala) | gnomAD v4 |
| 9 | g.133352533G= | CA1882634171 | SURF1 | c.664C= (p.Pro222=) n.574C= n.654C= c.337C= (p.Pro113=) | |
| 9 | g.133352533G>T | CA375693783 | SURF1 | c.664C>A (p.Pro222Thr) n.574C>A n.654C>A c.337C>A (p.Pro113Thr) | gnomAD v4 |
| 9 | g.133352534A= | CA1882634172 | SURF1 | c.663T= (p.Asn221=) n.573T= n.653T= c.336T= (p.Asn112=) | |
| 9 | g.133352534A>C | CA375693784 | SURF1 | c.663T>G (p.Asn221Lys) n.573T>G n.653T>G c.336T>G (p.Asn112Lys) | dbSNP gnomAD v4 |
| 9 | g.133352534A>T | CA375693785 | SURF1 | c.663T>A (p.Asn221Lys) n.573T>A n.653T>A c.336T>A (p.Asn112Lys) | |
| 9 | g.133352535T>A | CA375693786 | SURF1 | c.662A>T (p.Asn221Ile) n.572A>T n.652A>T c.335A>T (p.Asn112Ile) | |
| 9 | g.133352535T>C | CA375693787 | SURF1 | c.662A>G (p.Asn221Ser) n.572A>G n.652A>G c.335A>G (p.Asn112Ser) | gnomAD v4 |
| 9 | g.133352535T>G | CA375693788 | SURF1 | c.662A>C (p.Asn221Thr) n.572A>C n.652A>C c.335A>C (p.Asn112Thr) | |
| 9 | g.133352536T>A | CA375693789 | SURF1 | c.661A>T (p.Asn221Tyr) n.571A>T n.651A>T c.334A>T (p.Asn112Tyr) | |
| 9 | g.133352536T>C | CA375693790 | SURF1 | c.661A>G (p.Asn221Asp) n.571A>G n.651A>G c.334A>G (p.Asn112Asp) | ClinVar gnomAD v4 |
| 9 | g.133352536T>G | CA375693791 | SURF1 | c.661A>C (p.Asn221His) n.571A>C n.651A>C c.334A>C (p.Asn112His) | |
| 9 | g.133352537G>A | CA2550311936 | SURF1 | c.660C>T (p.Asn220=) n.570C>T n.650C>T c.333C>T (p.Asn111=) | gnomAD v4 |
| 9 | g.133352537G>C | CA375693792 | SURF1 | c.660C>G (p.Asn220Lys) n.570C>G n.650C>G c.333C>G (p.Asn111Lys) | |
| 9 | g.133352537G>T | CA375693793 | SURF1 | c.660C>A (p.Asn220Lys) n.570C>A n.650C>A c.333C>A (p.Asn111Lys) | |
| 9 | g.133352538T>A | CA375693794 | SURF1 | c.659A>T (p.Asn220Ile) n.569A>T n.649A>T c.332A>T (p.Asn111Ile) | |
| 9 | g.133352538T>C | CA375693796 | SURF1 | c.659A>G (p.Asn220Ser) n.569A>G n.649A>G c.332A>G (p.Asn111Ser) | |
| 9 | g.133352538T>G | CA375693795 | SURF1 | c.659A>C (p.Asn220Thr) n.569A>C n.649A>C c.332A>C (p.Asn111Thr) | |
| 9 | g.133352539T>A | CA375693797 | SURF1 | c.658A>T (p.Asn220Tyr) n.568A>T n.648A>T c.331A>T (p.Asn111Tyr) | |
| 9 | g.133352539T>C | CA375693798 | SURF1 | c.658A>G (p.Asn220Asp) n.568A>G n.648A>G c.331A>G (p.Asn111Asp) | |
| 9 | g.133352539T>G | CA375693799 | SURF1 | c.658A>C (p.Asn220His) n.568A>C n.648A>C c.331A>C (p.Asn111His) | |
| 9 | g.133352541_133352542del | CA2695211590 | SURF1 | c.657_658del (p.Asn220GlnfsTer27) n.567_568del n.647_648del c.330_331del (p.Asn111GlnfsTer27) | ClinVar |
| 9 | g.133352540del | CA2786166146 | SURF1 | c.657del (p.Asn220ThrfsTer?) n.567del n.647del c.330del (p.Asn111ThrfsTer?) | |
| 9 | g.133352540C>A | CA375693800 | SURF1 | c.657G>T (p.Glu219Asp) n.567G>T n.647G>T c.330G>T (p.Glu110Asp) | |
| 9 | g.133352540C= | CA1882634175 | SURF1 | c.657G= (p.Glu219=) n.567G= n.647G= c.330G= (p.Glu110=) | |
| 9 | g.133352540C>G | CA375693801 | SURF1 | c.657G>C (p.Glu219Asp) n.567G>C n.647G>C c.330G>C (p.Glu110Asp) | ClinVar gnomAD v4 |
| 9 | g.133352540C>T | CA16605407 | SURF1 | c.657G>A (p.Glu219=) n.567G>A n.647G>A c.330G>A (p.Glu110=) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352541T>A | CA375693802 | SURF1 | c.656A>T (p.Glu219Val) n.566A>T n.646A>T c.329A>T (p.Glu110Val) | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352541T>C | CA375693803 | SURF1 | c.656A>G (p.Glu219Gly) n.566A>G n.646A>G c.329A>G (p.Glu110Gly) | |
| 9 | g.133352541T>G | CA375693804 | SURF1 | c.656A>C (p.Glu219Ala) n.566A>C n.646A>C c.329A>C (p.Glu110Ala) | |
| 9 | g.133352541T= | CA1882634179 | SURF1 | c.656A= (p.Glu219=) n.566A= n.646A= c.329A= (p.Glu110=) | |
| 9 | g.133352542C>A | CA375693805 | SURF1 | c.655G>T (p.Glu219Ter) n.565G>T n.645G>T c.328G>T (p.Glu110Ter) | |
| 9 | g.133352542C= | CA1882634184 | SURF1 | c.655G= (p.Glu219=) n.565G= n.645G= c.328G= (p.Glu110=) | |
| 9 | g.133352542C>G | CA375693806 | SURF1 | c.655G>C (p.Glu219Gln) n.565G>C n.645G>C c.328G>C (p.Glu110Gln) | ClinVar |
| 9 | g.133352542C>T | CA375693807 | SURF1 | c.655G>A (p.Glu219Lys) n.565G>A n.645G>A c.328G>A (p.Glu110Lys) | dbSNP gnomAD v4 |
| 9 | g.133352542_133352544delinsCAG | CA1882634182 | SURF1 | c.653_655delinsCTG (p.Pro218=) n.563_565delinsCTG n.643_645delinsCTG c.326_328delinsCTG (p.Pro109=) | |
| 9 | g.133352543A= | CA1882634186 | SURF1 | c.654T= (p.Pro218=) n.564T= n.644T= c.327T= (p.Pro109=) | |
| 9 | g.133352543A>C | CA2507646506 | SURF1 | c.654T>G (p.Pro218=) n.564T>G n.644T>G c.327T>G (p.Pro109=) | |
| 9 | g.133352543A>G | CA1882634188 | SURF1 | c.654T>C (p.Pro218=) n.564T>C n.644T>C c.327T>C (p.Pro109=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133352543_133352544del | CA860707959 | SURF1 | c.653_654del (p.Pro218ArgfsTer29) n.563_564del n.643_644del c.326_327del (p.Pro109ArgfsTer29) | dbSNP gnomAD v4 |
| 9 | g.133352544G>A | CA375693810 | SURF1 | c.653C>T (p.Pro218Leu) n.563C>T n.643C>T c.326C>T (p.Pro109Leu) | dbSNP gnomAD v4 |
| 9 | g.133352544G>C | CA375693809 | SURF1 | c.653C>G (p.Pro218Arg) n.563C>G n.643C>G c.326C>G (p.Pro109Arg) | |
| 9 | g.133352544G= | CA1882634190 | SURF1 | c.653C= (p.Pro218=) n.563C= n.643C= c.326C= (p.Pro109=) | |
| 9 | g.133352544G>T | CA375693808 | SURF1 | c.653C>A (p.Pro218His) n.563C>A n.643C>A c.326C>A (p.Pro109His) | |
| 9 | g.133352545G>A | CA375693811 | SURF1 | c.652C>T (p.Pro218Ser) n.562C>T n.642C>T c.325C>T (p.Pro109Ser) | |
| 9 | g.133352545G>C | CA375693812 | SURF1 | c.652C>G (p.Pro218Ala) n.562C>G n.642C>G c.325C>G (p.Pro109Ala) | |
| 9 | g.133352545G>T | CA375693813 | SURF1 | c.652C>A (p.Pro218Thr) n.562C>A n.642C>A c.325C>A (p.Pro109Thr) | |
| 9 | g.133352546G>A | CA200832380 | SURF1 | c.651C>T (p.Val217=) n.561C>T n.641C>T c.324C>T (p.Val108=) | dbSNP gnomAD v4 |
| 9 | g.133352546G= | CA1882634193 | SURF1 | c.651C= (p.Val217=) n.561C= n.641C= c.324C= (p.Val108=) | |
| 9 | g.133352547A= | CA1882634196 | SURF1 | c.650T= (p.Val217=) n.560T= n.640T= c.323T= (p.Val108=) | |
| 9 | g.133352547A>C | CA375693814 | SURF1 | c.650T>G (p.Val217Gly) n.560T>G n.640T>G c.323T>G (p.Val108Gly) | |
| 9 | g.133352547A>G | CA200832382 | SURF1 | c.650T>C (p.Val217Ala) n.560T>C n.640T>C c.323T>C (p.Val108Ala) | dbSNP |
| 9 | g.133352547A>T | CA375693815 | SURF1 | c.650T>A (p.Val217Asp) n.560T>A n.640T>A c.323T>A (p.Val108Asp) | |
| 9 | g.133352548C>A | CA375693816 | SURF1 | c.649G>T (p.Val217Phe) n.559G>T n.639G>T c.322G>T (p.Val108Phe) | |
| 9 | g.133352548C= | CA1882634199 | SURF1 | c.649G= (p.Val217=) n.559G= n.639G= c.322G= (p.Val108=) | |
| 9 | g.133352548C>G | CA375693817 | SURF1 | c.649G>C (p.Val217Leu) n.559G>C n.639G>C c.322G>C (p.Val108Leu) | |
| 9 | g.133352548C>T | CA375693818 | SURF1 | c.649G>A (p.Val217Ile) n.559G>A n.639G>A c.322G>A (p.Val108Ile) | ClinVar dbSNP |
| 9 | g.133352549A>C | CA375693819 | SURF1 | c.648T>G (p.Phe216Leu) n.558T>G n.638T>G c.321T>G (p.Phe107Leu) | |
| 9 | g.133352549A>G | CA2739265142 | SURF1 | c.648T>C (p.Phe216=) n.558T>C n.638T>C c.321T>C (p.Phe107=) | ClinVar |
| 9 | g.133352549A>T | CA375693820 | SURF1 | c.648T>A (p.Phe216Leu) n.558T>A n.638T>A c.321T>A (p.Phe107Leu) | |
| 9 | g.133352550A>C | CA375693823 | SURF1 | c.647T>G (p.Phe216Cys) n.557T>G n.637T>G c.320T>G (p.Phe107Cys) | |
| 9 | g.133352550A>G | CA375693822 | SURF1 | c.647T>C (p.Phe216Ser) n.557T>C n.637T>C c.320T>C (p.Phe107Ser) | gnomAD v4 COSMIC |
| 9 | g.133352550A>T | CA375693821 | SURF1 | c.647T>A (p.Phe216Tyr) n.557T>A n.637T>A c.320T>A (p.Phe107Tyr) | |
| 9 | g.133352551A>C | CA375693824 | SURF1 | c.646T>G (p.Phe216Val) n.556T>G n.636T>G c.319T>G (p.Phe107Val) | |
| 9 | g.133352551A>G | CA375693826 | SURF1 | c.646T>C (p.Phe216Leu) n.556T>C n.636T>C c.319T>C (p.Phe107Leu) | |
| 9 | g.133352551A>T | CA375693825 | SURF1 | c.646T>A (p.Phe216Ile) n.556T>A n.636T>A c.319T>A (p.Phe107Ile) | |
| 9 | g.133352552A>G | CA2533655184 | SURF1 | c.645T>C (p.Pro215=) n.555T>C n.635T>C c.318T>C (p.Pro106=) | |
| 9 | g.133352552A>T | CA2692339155 | SURF1 | c.645T>A (p.Pro215=) n.555T>A n.635T>A c.318T>A (p.Pro106=) | gnomAD v4 |
| 9 | g.133352553G>A | CA200832385 | SURF1 | c.644C>T (p.Pro215Leu) n.554C>T n.634C>T c.317C>T (p.Pro106Leu) | dbSNP gnomAD v4 |
| 9 | g.133352553G>C | CA375693827 | SURF1 | c.644C>G (p.Pro215Arg) n.554C>G n.634C>G c.317C>G (p.Pro106Arg) | |
| 9 | g.133352553G= | CA1882634201 | SURF1 | c.644C= (p.Pro215=) n.554C= n.634C= c.317C= (p.Pro106=) | |
| 9 | g.133352553G>T | CA375693828 | SURF1 | c.644C>A (p.Pro215His) n.554C>A n.634C>A c.317C>A (p.Pro106His) | |
| 9 | g.133352554G>A | CA375693829 | SURF1 | c.643C>T (p.Pro215Ser) n.553C>T n.633C>T c.316C>T (p.Pro106Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352554G>C | CA10629367 | SURF1 | c.643C>G (p.Pro215Ala) n.553C>G n.633C>G c.316C>G (p.Pro106Ala) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352554G= | CA1882634209 | SURF1 | c.643C= (p.Pro215=) n.553C= n.633C= c.316C= (p.Pro106=) | |
| 9 | g.133352554G>T | CA375693830 | SURF1 | c.643C>A (p.Pro215Thr) n.553C>A n.633C>A c.316C>A (p.Pro106Thr) | dbSNP gnomAD v4 |
| 9 | g.133352556_133352558del | CA2573144048 | SURF1 | c.641_643del (p.Gln214del) n.551_553del n.631_633del c.314_316del (p.Gln105del) | ClinVar dbSNP |
| 9 | g.133352554_133352565delinsGCTGCCTGGTTT | CA1882634205 | SURF1 | c.632_643delinsAAACCAGGCAGC (p.Glu211=) n.542_553delinsAAACCAGGCAGC n.622_633delinsAAACCAGGCAGC c.305_316delinsAAACCAGGCAGC (p.Glu102=) | |
| 9 | g.133352555C>A | CA375693831 | SURF1 | c.642G>T (p.Gln214His) n.552G>T n.632G>T c.315G>T (p.Gln105His) | COSMIC |
| 9 | g.133352555C>G | CA375693832 | SURF1 | c.642G>C (p.Gln214His) n.552G>C n.632G>C c.315G>C (p.Gln105His) | |
| 9 | g.133352558_133352568del | CA200832387 | SURF1 | c.632_642del (p.Glu211AlafsTer5) n.542_552del n.622_632del c.305_315del (p.Glu102AlafsTer5) | ClinVar dbSNP dbSNP |
| 9 | g.133352556T>A | CA375693833 | SURF1 | c.641A>T (p.Gln214Leu) n.551A>T n.631A>T c.314A>T (p.Gln105Leu) | |
| 9 | g.133352556T>C | CA200832390 | SURF1 | c.641A>G (p.Gln214Arg) n.551A>G n.631A>G c.314A>G (p.Gln105Arg) | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352556T>G | CA375693834 | SURF1 | c.641A>C (p.Gln214Pro) n.551A>C n.631A>C c.314A>C (p.Gln105Pro) | |
| 9 | g.133352556T= | CA1882634213 | SURF1 | c.641A= (p.Gln214=) n.551A= n.631A= c.314A= (p.Gln105=) | |
| 9 | g.133352557G>A | CA375693835 | SURF1 | c.640C>T (p.Gln214Ter) n.550C>T n.630C>T c.313C>T (p.Gln105Ter) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133352557G>C | CA375693837 | SURF1 | c.640C>G (p.Gln214Glu) n.550C>G n.630C>G c.313C>G (p.Gln105Glu) | |
| 9 | g.133352557G>T | CA375693836 | SURF1 | c.640C>A (p.Gln214Lys) n.550C>A n.630C>A c.313C>A (p.Gln105Lys) | COSMIC |
| 9 | g.133352558C>A | CA375693838 | SURF1 | c.639G>T (p.Arg213Ser) n.549G>T n.629G>T c.312G>T (p.Arg104Ser) | |
| 9 | g.133352558C>G | CA375693839 | SURF1 | c.639G>C (p.Arg213Ser) n.549G>C n.629G>C c.312G>C (p.Arg104Ser) | |
| 9 | g.133352558C>T | CA2692339177 | SURF1 | c.639G>A (p.Arg213=) n.549G>A n.629G>A c.312G>A (p.Arg104=) | ClinVar gnomAD v4 |
| 9 | g.133352559C>A | CA375693840 | SURF1 | c.638G>T (p.Arg213Met) n.548G>T n.628G>T c.311G>T (p.Arg104Met) | |
| 9 | g.133352559C= | CA1882634215 | SURF1 | c.638G= (p.Arg213=) n.548G= n.628G= c.311G= (p.Arg104=) | |
| 9 | g.133352559C>G | CA375693841 | SURF1 | c.638G>C (p.Arg213Thr) n.548G>C n.628G>C c.311G>C (p.Arg104Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352559C>T | CA375693842 | SURF1 | c.638G>A (p.Arg213Lys) n.548G>A n.628G>A c.311G>A (p.Arg104Lys) | gnomAD v4 |
| 9 | g.133352560T>A | CA375693843 | SURF1 | c.637A>T (p.Arg213Trp) n.547A>T n.627A>T c.310A>T (p.Arg104Trp) | |
| 9 | g.133352560T>C | CA375693844 | SURF1 | c.637A>G (p.Arg213Gly) n.547A>G n.627A>G c.310A>G (p.Arg104Gly) | gnomAD v4 |
| 9 | g.133352560T>G | CA2523467952 | SURF1 | c.637A>C (p.Arg213=) n.547A>C n.627A>C c.310A>C (p.Arg104=) | |
| 9 | g.133352561G>A | CA860708021 | SURF1 | c.636C>T (p.Thr212=) n.546C>T n.626C>T c.309C>T (p.Thr103=) | ClinVar dbSNP dbSNP gnomAD v4 |
| 9 | g.133352561G>C | CA1882634219 | SURF1 | c.636C>G (p.Thr212=) n.546C>G n.626C>G c.309C>G (p.Thr103=) | dbSNP |
| 9 | g.133352561G= | CA1882634218 | SURF1 | c.636C= (p.Thr212=) n.546C= n.626C= c.309C= (p.Thr103=) | |
| 9 | g.133352562del | CA2695211591 | SURF1 | c.636del (p.Arg213GlyfsTer?) n.546del n.626del c.309del (p.Arg104GlyfsTer?) | |
| 9 | g.133352562G>A | CA375693845 | SURF1 | c.635C>T (p.Thr212Ile) n.545C>T n.625C>T c.308C>T (p.Thr103Ile) | |
| 9 | g.133352562G>C | CA375693846 | SURF1 | c.635C>G (p.Thr212Ser) n.545C>G n.625C>G c.308C>G (p.Thr103Ser) | gnomAD v4 |
| 9 | g.133352562G>T | CA375693847 | SURF1 | c.635C>A (p.Thr212Asn) n.545C>A n.625C>A c.308C>A (p.Thr103Asn) | |
| 9 | g.133352563T>A | CA375693849 | SURF1 | c.634A>T (p.Thr212Ser) n.544A>T n.624A>T c.307A>T (p.Thr103Ser) | |
| 9 | g.133352563T>C | CA375693850 | SURF1 | c.634A>G (p.Thr212Ala) n.544A>G n.624A>G c.307A>G (p.Thr103Ala) | gnomAD v4 |
| 9 | g.133352563T>G | CA375693848 | SURF1 | c.634A>C (p.Thr212Pro) n.544A>C n.624A>C c.307A>C (p.Thr103Pro) | |
| 9 | g.133352564T>A | CA375693851 | SURF1 | c.633A>T (p.Glu211Asp) n.543A>T n.623A>T c.306A>T (p.Glu102Asp) | |
| 9 | g.133352564T>C | CA2500303988 | SURF1 | c.633A>G (p.Glu211=) n.543A>G n.623A>G c.306A>G (p.Glu102=) | |
| 9 | g.133352564T>G | CA375693852 | SURF1 | c.633A>C (p.Glu211Asp) n.543A>C n.623A>C c.306A>C (p.Glu102Asp) | gnomAD v4 |
| 9 | g.133352564_133352566delinsTTC | CA1882634221 | SURF1 | c.631_633delinsGAA (p.Glu211=) n.541_543delinsGAA n.621_623delinsGAA c.304_306delinsGAA (p.Glu102=) | |
| 9 | g.133352565T>A | CA375693853 | SURF1 | c.632A>T (p.Glu211Val) n.542A>T n.622A>T c.305A>T (p.Glu102Val) | gnomAD v4 |
| 9 | g.133352565T>C | CA375693854 | SURF1 | c.632A>G (p.Glu211Gly) n.542A>G n.622A>G c.305A>G (p.Glu102Gly) | dbSNP dbSNP gnomAD v4 |
| 9 | g.133352565T>G | CA375693855 | SURF1 | c.632A>C (p.Glu211Ala) n.542A>C n.622A>C c.305A>C (p.Glu102Ala) | |
| 9 | g.133352565T= | CA1882634225 | SURF1 | c.632A= (p.Glu211=) n.542A= n.622A= c.305A= (p.Glu102=) | |
| 9 | g.133352566_133352567del | CA658683555 | SURF1 | c.631_632del (p.Glu211AsnfsTer8) n.541_542del n.621_622del c.304_305del (p.Glu102AsnfsTer8) | ClinVar dbSNP |
| 9 | g.133352566C>A | CA375693858 | SURF1 | c.631G>T (p.Glu211Ter) n.541G>T n.621G>T c.304G>T (p.Glu102Ter) | gnomAD v4 |
| 9 | g.133352566C>G | CA375693857 | SURF1 | c.631G>C (p.Glu211Gln) n.541G>C n.621G>C c.304G>C (p.Glu102Gln) | |
| 9 | g.133352566C>T | CA375693856 | SURF1 | c.631G>A (p.Glu211Lys) n.541G>A n.621G>A c.304G>A (p.Glu102Lys) | |
| 9 | g.133352567T>C | CA860708042 | SURF1 | c.630A>G (p.Thr210=) n.540A>G n.620A>G c.303A>G (p.Thr101=) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352567T= | CA1882634228 | SURF1 | c.630A= (p.Thr210=) n.540A= n.620A= c.303A= (p.Thr101=) | |
| 9 | g.133352568G>A | CA375693859 | SURF1 | c.629C>T (p.Thr210Ile) n.539C>T n.619C>T c.302C>T (p.Thr101Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352568G>C | CA375693860 | SURF1 | c.629C>G (p.Thr210Arg) n.539C>G n.619C>G c.302C>G (p.Thr101Arg) | |
| 9 | g.133352568G= | CA1882634230 | SURF1 | c.629C= (p.Thr210=) n.539C= n.619C= c.302C= (p.Thr101=) | |
| 9 | g.133352568G>T | CA375693861 | SURF1 | c.629C>A (p.Thr210Lys) n.539C>A n.619C>A c.302C>A (p.Thr101Lys) | |
| 9 | g.133352569T>A | CA375693862 | SURF1 | c.628A>T (p.Thr210Ser) n.538A>T n.618A>T c.301A>T (p.Thr101Ser) | |
| 9 | g.133352569T>C | CA375693863 | SURF1 | c.628A>G (p.Thr210Ala) n.538A>G n.618A>G c.301A>G (p.Thr101Ala) | |
| 9 | g.133352569T>G | CA375693864 | SURF1 | c.628A>C (p.Thr210Pro) n.538A>C n.618A>C c.301A>C (p.Thr101Pro) | |
| 9 | g.133352570C>T | CA2697558159 | SURF1 | c.627G>A (p.Leu209=) n.537G>A n.617G>A c.300G>A (p.Leu100=) | ClinVar |
| 9 | g.133352571A>C | CA375693865 | SURF1 | c.626T>G (p.Leu209Arg) n.536T>G n.616T>G c.299T>G (p.Leu100Arg) | |
| 9 | g.133352571A>G | CA375693867 | SURF1 | c.626T>C (p.Leu209Pro) n.536T>C n.616T>C c.299T>C (p.Leu100Pro) | |
| 9 | g.133352571A>T | CA375693866 | SURF1 | c.626T>A (p.Leu209Gln) n.536T>A n.616T>A c.299T>A (p.Leu100Gln) | |
| 9 | g.133352572G>C | CA375693868 | SURF1 | c.625C>G (p.Leu209Val) n.535C>G n.615C>G c.298C>G (p.Leu100Val) | dbSNP gnomAD v4 |
| 9 | g.133352572G= | CA1882634232 | SURF1 | c.625C= (p.Leu209=) n.535C= n.615C= c.298C= (p.Leu100=) | |
| 9 | g.133352572G>T | CA375693869 | SURF1 | c.625C>A (p.Leu209Met) n.535C>A n.615C>A c.298C>A (p.Leu100Met) | |
| 9 | g.133352573C>A | CA375693870 | SURF1 | c.624G>T (p.Arg208Ser) n.534G>T n.614G>T c.297G>T (p.Arg99Ser) | |
| 9 | g.133352573C>G | CA375693871 | SURF1 | c.624G>C (p.Arg208Ser) n.534G>C n.614G>C c.297G>C (p.Arg99Ser) | |
| 9 | g.133352574C>A | CA375693872 | SURF1 | c.623G>T (p.Arg208Met) n.533G>T n.613G>T c.296G>T (p.Arg99Met) | |
| 9 | g.133352574C= | CA1882634234 | SURF1 | c.623G= (p.Arg208=) n.533G= n.613G= c.296G= (p.Arg99=) | |
| 9 | g.133352574C>G | CA375693873 | SURF1 | c.623G>C (p.Arg208Thr) n.533G>C n.613G>C c.296G>C (p.Arg99Thr) | |
| 9 | g.133352574C>T | CA375693874 | SURF1 | c.623G>A (p.Arg208Lys) n.533G>A n.613G>A c.296G>A (p.Arg99Lys) | dbSNP gnomAD v4 |
| 9 | g.133352575del | CA2695211592 | SURF1 | c.622del (p.Arg208GlyfsTer2) n.532del n.612del c.295del (p.Arg99GlyfsTer2) | |
| 9 | g.133352575T>A | CA375693875 | SURF1 | c.622A>T (p.Arg208Trp) n.532A>T n.612A>T c.295A>T (p.Arg99Trp) | |
| 9 | g.133352575T>C | CA375693876 | SURF1 | c.622A>G (p.Arg208Gly) n.532A>G n.612A>G c.295A>G (p.Arg99Gly) | |
| 9 | g.133352576C= | CA1882634236 | SURF1 | c.621G= (p.Val207=) n.531G= n.611G= c.294G= (p.Val98=) | |
| 9 | g.133352576C>T | CA200832393 | SURF1 | c.621G>A (p.Val207=) n.531G>A n.611G>A c.294G>A (p.Val98=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133352577A>C | CA375693877 | SURF1 | c.620T>G (p.Val207Gly) n.530T>G n.610T>G c.293T>G (p.Val98Gly) | |
| 9 | g.133352577A>G | CA375693878 | SURF1 | c.620T>C (p.Val207Ala) n.530T>C n.610T>C c.293T>C (p.Val98Ala) | |
| 9 | g.133352577A>T | CA375693879 | SURF1 | c.620T>A (p.Val207Glu) n.530T>A n.610T>A c.293T>A (p.Val98Glu) | |
| 9 | g.133352578C>A | CA375693881 | SURF1 | c.619G>T (p.Val207Leu) n.529G>T n.609G>T c.292G>T (p.Val98Leu) | |
| 9 | g.133352578C= | CA1882634239 | SURF1 | c.619G= (p.Val207=) n.529G= n.609G= c.292G= (p.Val98=) | |
| 9 | g.133352578C>G | CA375693882 | SURF1 | c.619G>C (p.Val207Leu) n.529G>C n.609G>C c.292G>C (p.Val98Leu) | |
| 9 | g.133352578C>T | CA375693880 | SURF1 | c.619G>A (p.Val207Met) n.529G>A n.609G>A c.292G>A (p.Val98Met) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352579C>A | CA375693883 | SURF1 | c.618G>T (p.Met206Ile) n.528G>T n.608G>T c.291G>T (p.Met97Ile) | |
| 9 | g.133352579C>G | CA375693885 | SURF1 | c.618G>C (p.Met206Ile) n.528G>C n.608G>C c.291G>C (p.Met97Ile) | |
| 9 | g.133352579C>T | CA375693884 | SURF1 | c.618G>A (p.Met206Ile) n.528G>A n.608G>A c.291G>A (p.Met97Ile) | |
| 9 | g.133352580A>C | CA375693886 | SURF1 | c.617T>G (p.Met206Arg) n.527T>G n.607T>G c.290T>G (p.Met97Arg) | |
| 9 | g.133352580A>G | CA375693888 | SURF1 | c.617T>C (p.Met206Thr) n.527T>C n.607T>C c.290T>C (p.Met97Thr) | |
| 9 | g.133352580A>T | CA375693887 | SURF1 | c.617T>A (p.Met206Lys) n.527T>A n.607T>A c.290T>A (p.Met97Lys) | |
| 9 | g.133352581T>A | CA375693889 | SURF1 | c.616A>T (p.Met206Leu) n.526A>T n.606A>T c.289A>T (p.Met97Leu) | |
| 9 | g.133352581T>C | CA375693891 | SURF1 | c.616A>G (p.Met206Val) n.526A>G n.606A>G c.289A>G (p.Met97Val) | |
| 9 | g.133352581T>G | CA375693890 | SURF1 | c.616A>C (p.Met206Leu) n.526A>C n.606A>C c.289A>C (p.Met97Leu) | |
| 9 | g.133352583C>A | CA375693892 | SURF1 | c.614G>T (p.Gly205Val) n.524G>T n.604G>T c.287G>T (p.Gly96Val) | |
| 9 | g.133352583C= | CA1882634240 | SURF1 | c.614G= (p.Gly205=) n.524G= n.604G= c.287G= (p.Gly96=) | |
| 9 | g.133352583C>G | CA375693893 | SURF1 | c.614G>C (p.Gly205Ala) n.524G>C n.604G>C c.287G>C (p.Gly96Ala) | |
| 9 | g.133352583C>T | CA375693894 | SURF1 | c.614G>A (p.Gly205Glu) n.524G>A n.604G>A c.287G>A (p.Gly96Glu) | ClinVar dbSNP |
| 9 | g.133352584C>A | CA375693895 | SURF1 | c.613G>T (p.Gly205Trp) n.523G>T n.603G>T c.286G>T (p.Gly96Trp) | |
| 9 | g.133352584C>G | CA375693896 | SURF1 | c.613G>C (p.Gly205Arg) n.523G>C n.603G>C c.286G>C (p.Gly96Arg) | |
| 9 | g.133352584C>T | CA375693897 | SURF1 | c.613G>A (p.Gly205Arg) n.523G>A n.603G>A c.286G>A (p.Gly96Arg) | |
| 9 | g.133352585A>C | CA375693898 | SURF1 | c.612T>G (p.Ile204Met) n.522T>G n.602T>G c.285T>G (p.Ile95Met) | |
| 9 | g.133352586A= | CA1882634243 | SURF1 | c.611T= (p.Ile204=) n.521T= n.601T= c.284T= (p.Ile95=) | |
| 9 | g.133352586A>C | CA375693899 | SURF1 | c.611T>G (p.Ile204Ser) n.521T>G n.601T>G c.284T>G (p.Ile95Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352586A>G | CA375693900 | SURF1 | c.611T>C (p.Ile204Thr) n.521T>C n.601T>C c.284T>C (p.Ile95Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352586A>T | CA375693901 | SURF1 | c.611T>A (p.Ile204Asn) n.521T>A n.601T>A c.284T>A (p.Ile95Asn) | |
| 9 | g.133352587T>A | CA200832397 | SURF1 | c.610A>T (p.Ile204Phe) n.520A>T n.600A>T c.283A>T (p.Ile95Phe) | dbSNP gnomAD v4 |
| 9 | g.133352587T>C | CA375693902 | SURF1 | c.610A>G (p.Ile204Val) n.520A>G n.600A>G c.283A>G (p.Ile95Val) | dbSNP |
| 9 | g.133352587T>G | CA200832400 | SURF1 | c.610A>C (p.Ile204Leu) n.520A>C n.600A>C c.283A>C (p.Ile95Leu) | dbSNP |
| 9 | g.133352587T= | CA1882634248 | SURF1 | c.610A= (p.Ile204=) n.520A= n.600A= c.283A= (p.Ile95=) | |
| 9 | g.133352588_133352592dup | CA200832402 | SURF1 | c.606_610dup (p.Ile204ThrfsTer6) n.516_520dup n.596_600dup c.279_283dup (p.Ile95ThrfsTer6) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352588G>A | CA1882634252 | SURF1 | c.609C>T (p.Leu203=) n.519C>T n.599C>T c.282C>T (p.Leu94=) | ClinVar dbSNP dbSNP gnomAD v4 |
| 9 | g.133352588G= | CA1882634251 | SURF1 | c.609C= (p.Leu203=) n.519C= n.599C= c.282C= (p.Leu94=) | |
| 9 | g.133352589A= | CA1882634255 | SURF1 | c.608T= (p.Leu203=) n.518T= n.598T= c.281T= (p.Leu94=) | |
| 9 | g.133352589A>C | CA375693904 | SURF1 | c.608T>G (p.Leu203Arg) n.518T>G n.598T>G c.281T>G (p.Leu94Arg) | |
| 9 | g.133352589A>G | CA200832405 | SURF1 | c.608T>C (p.Leu203Pro) n.518T>C n.598T>C c.281T>C (p.Leu94Pro) | dbSNP gnomAD v4 |
| 9 | g.133352589A>T | CA375693903 | SURF1 | c.608T>A (p.Leu203His) n.518T>A n.598T>A c.281T>A (p.Leu94His) | |
| 9 | g.133352590G>A | CA375693905 | SURF1 | c.607C>T (p.Leu203Phe) n.517C>T n.597C>T c.280C>T (p.Leu94Phe) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352590G>C | CA375693906 | SURF1 | c.607C>G (p.Leu203Val) n.517C>G n.597C>G c.280C>G (p.Leu94Val) | |
| 9 | g.133352590G= | CA1882634257 | SURF1 | c.607C= (p.Leu203=) n.517C= n.597C= c.280C= (p.Leu94=) | |
| 9 | g.133352590G>T | CA375693907 | SURF1 | c.607C>A (p.Leu203Ile) n.517C>A n.597C>A c.280C>A (p.Leu94Ile) | |
| 9 | g.133352591G>A | CA2692339238 | SURF1 | c.606C>T (p.Asp202=) n.516C>T n.596C>T c.279C>T (p.Asp93=) | ClinVar gnomAD v4 |
| 9 | g.133352591G>C | CA375693908 | SURF1 | c.606C>G (p.Asp202Glu) n.516C>G n.596C>G c.279C>G (p.Asp93Glu) | |
| 9 | g.133352591G>T | CA375693909 | SURF1 | c.606C>A (p.Asp202Glu) n.516C>A n.596C>A c.279C>A (p.Asp93Glu) | |
| 9 | g.133352592T>A | CA375693910 | SURF1 | c.605A>T (p.Asp202Val) n.515A>T n.595A>T c.278A>T (p.Asp93Val) | |
| 9 | g.133352592T>C | CA375693911 | SURF1 | c.605A>G (p.Asp202Gly) n.515A>G n.595A>G c.278A>G (p.Asp93Gly) | |
| 9 | g.133352592T>G | CA375693912 | SURF1 | c.605A>C (p.Asp202Ala) n.515A>C n.595A>C c.278A>C (p.Asp93Ala) | |
| 9 | g.133352593C>A | CA200832407 | SURF1 | c.604G>T (p.Asp202Tyr) n.514G>T n.594G>T c.277G>T (p.Asp93Tyr) | dbSNP dbSNP gnomAD v4 |
| 9 | g.133352593C= | CA1882634262 | SURF1 | c.604G= (p.Asp202=) n.514G= n.594G= c.277G= (p.Asp93=) | |
| 9 | g.133352593C>G | CA293830 | SURF1 | c.604G>C (p.Asp202His) n.514G>C n.594G>C c.277G>C (p.Asp93His) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.133352593C>T | CA375693913 | SURF1 | c.604G>A (p.Asp202Asn) n.514G>A n.594G>A c.277G>A (p.Asp93Asn) | dbSNP gnomAD v4 |
| 9 | g.133352594C= | CA1882634265 | SURF1 | c.603G= (p.Val201=) n.513G= n.593G= c.276G= (p.Val92=) | |
| 9 | g.133352594C>G | CA2786166151 | SURF1 | c.603G>C (p.Val201=) n.513G>C n.593G>C c.276G>C (p.Val92=) | |
| 9 | g.133352594C>T | CA200832412 | SURF1 | c.603G>A (p.Val201=) n.513G>A n.593G>A c.276G>A (p.Val92=) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352595A= | CA1882634268 | SURF1 | c.602T= (p.Val201=) n.512T= n.592T= c.275T= (p.Val92=) | |
| 9 | g.133352595A>C | CA375693914 | SURF1 | c.602T>G (p.Val201Gly) n.512T>G n.592T>G c.275T>G (p.Val92Gly) | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352595A>G | CA375693916 | SURF1 | c.602T>C (p.Val201Ala) n.512T>C n.592T>C c.275T>C (p.Val92Ala) | dbSNP gnomAD v4 COSMIC |
| 9 | g.133352595A>T | CA375693915 | SURF1 | c.602T>A (p.Val201Glu) n.512T>A n.592T>A c.275T>A (p.Val92Glu) | |
| 9 | g.133352596C>A | CA375693917 | SURF1 | c.601G>T (p.Val201Leu) n.511G>T n.591G>T c.274G>T (p.Val92Leu) | |
| 9 | g.133352596C>G | CA375693918 | SURF1 | c.601G>C (p.Val201Leu) n.511G>C n.591G>C c.274G>C (p.Val92Leu) | |
| 9 | g.133352596C>T | CA375693919 | SURF1 | c.601G>A (p.Val201Met) n.511G>A n.591G>A c.274G>A (p.Val92Met) | |
| 9 | g.133352597T>A | CA375693920 | SURF1 | c.600A>T (p.Glu200Asp) n.510A>T n.590A>T c.273A>T (p.Glu91Asp) | |
| 9 | g.133352597T>C | CA2499899119 | SURF1 | c.600A>G (p.Glu200=) n.510A>G n.590A>G c.273A>G (p.Glu91=) | |
| 9 | g.133352597T>G | CA375693921 | SURF1 | c.600A>C (p.Glu200Asp) n.510A>C n.590A>C c.273A>C (p.Glu91Asp) | |
| 9 | g.133352598T>A | CA375693922 | SURF1 | c.599A>T (p.Glu200Val) n.509A>T n.589A>T c.272A>T (p.Glu91Val) | |
| 9 | g.133352598T>C | CA375693923 | SURF1 | c.599A>G (p.Glu200Gly) n.509A>G n.589A>G c.272A>G (p.Glu91Gly) | |
| 9 | g.133352598T>G | CA375693924 | SURF1 | c.599A>C (p.Glu200Ala) n.509A>C n.589A>C c.272A>C (p.Glu91Ala) | |
| 9 | g.133352599C>A | CA375693925 | SURF1 | c.598G>T (p.Glu200Ter) n.508G>T n.588G>T c.271G>T (p.Glu91Ter) | |
| 9 | g.133352599C= | CA1882634271 | SURF1 | c.598G= (p.Glu200=) n.508G= n.588G= c.271G= (p.Glu91=) | |
| 9 | g.133352599C>G | CA375693926 | SURF1 | c.598G>C (p.Glu200Gln) n.508G>C n.588G>C c.271G>C (p.Glu91Gln) | ClinVar dbSNP |
| 9 | g.133352599C>T | CA375693927 | SURF1 | c.598G>A (p.Glu200Lys) n.508G>A n.588G>A c.271G>A (p.Glu91Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352600_133352602del | CA2695211593 | SURF1 | c.596_598del (p.Gly199del) n.506_508del n.586_588del c.269_271del (p.Gly90del) | |
| 9 | g.133352602_133352605del | CA2573053131 | SURF1 | c.595_598del (p.Gly199LysfsTer8) n.505_508del n.585_588del c.268_271del (p.Gly90LysfsTer8) | ClinVar dbSNP |
| 9 | g.133352601C>A | CA375693930 | SURF1 | c.596G>T (p.Gly199Val) n.506G>T n.586G>T c.269G>T (p.Gly90Val) | |
| 9 | g.133352601C= | CA1882634274 | SURF1 | c.596G= (p.Gly199=) n.506G= n.586G= c.269G= (p.Gly90=) | |
| 9 | g.133352601C>G | CA375693929 | SURF1 | c.596G>C (p.Gly199Ala) n.506G>C n.586G>C c.269G>C (p.Gly90Ala) | |
| 9 | g.133352601C>T | CA375693928 | SURF1 | c.596G>A (p.Gly199Glu) n.506G>A n.586G>A c.269G>A (p.Gly90Glu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 9 | g.133352602C>A | CA375693931 | SURF1 | c.595G>T (p.Gly199Ter) n.505G>T n.585G>T c.268G>T (p.Gly90Ter) | |
| 9 | g.133352602C= | CA1882634276 | SURF1 | c.595G= (p.Gly199=) n.505G= n.585G= c.268G= (p.Gly90=) | |
| 9 | g.133352602C>G | CA375693932 | SURF1 | c.595G>C (p.Gly199Arg) n.505G>C n.585G>C c.268G>C (p.Gly90Arg) | |
| 9 | g.133352602C>T | CA200832414 | SURF1 | c.595G>A (p.Gly199Arg) n.505G>A n.585G>A c.268G>A (p.Gly90Arg) | dbSNP gnomAD v4 |
| 9 | g.133352603C>A | CA375693933 | SURF1 | c.594G>T (p.Glu198Asp) n.504G>T n.584G>T c.267G>T (p.Glu89Asp) | |
| 9 | g.133352603C= | CA1882634278 | SURF1 | c.594G= (p.Glu198=) n.504G= n.584G= c.267G= (p.Glu89=) | |
| 9 | g.133352603C>G | CA375693934 | SURF1 | c.594G>C (p.Glu198Asp) n.504G>C n.584G>C c.267G>C (p.Glu89Asp) | gnomAD v4 |
| 9 | g.133352603C>T | CA200832417 | SURF1 | c.594G>A (p.Glu198=) n.504G>A n.584G>A c.267G>A (p.Glu89=) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352604T>A | CA375693935 | SURF1 | c.593A>T (p.Glu198Val) n.503A>T n.583A>T c.266A>T (p.Glu89Val) | |
| 9 | g.133352604T>C | CA375693936 | SURF1 | c.593A>G (p.Glu198Gly) n.503A>G n.583A>G c.266A>G (p.Glu89Gly) | |
| 9 | g.133352604T>G | CA375693937 | SURF1 | c.593A>C (p.Glu198Ala) n.503A>C n.583A>C c.266A>C (p.Glu89Ala) | |
| 9 | g.133352606_133352609del | CA2739265145 | SURF1 | c.590_593del n.500_503del n.580_583del c.263_266del | ClinVar |
| 9 | g.133352605C>A | CA375693938 | SURF1 | c.592G>T (p.Glu198Ter) n.502G>T n.582G>T c.265G>T (p.Glu89Ter) | |
| 9 | g.133352605C>G | CA375693939 | SURF1 | c.592G>C (p.Glu198Gln) n.502G>C n.582G>C c.265G>C (p.Glu89Gln) | |
| 9 | g.133352605C>T | CA375693940 | SURF1 | c.592G>A (p.Glu198Lys) n.502G>A n.582G>A c.265G>A (p.Glu89Lys) | |
| 9 | g.133352606A= | CA1882634282 | SURF1 | c.591T= (p.Ile197=) n.501T= n.581T= c.264T= (p.Ile88=) | |
| 9 | g.133352606A>C | CA375693941 | SURF1 | c.591T>G (p.Ile197Met) n.501T>G n.581T>G c.264T>G (p.Ile88Met) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352606A>G | CA645550599 | SURF1 | c.591T>C (p.Ile197=) n.501T>C n.581T>C c.264T>C (p.Ile88=) | COSMIC |
| 9 | g.133352606A>T | CA200832419 | SURF1 | c.591T>A (p.Ile197=) n.501T>A n.581T>A c.264T>A (p.Ile88=) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352607A= | CA1882634285 | SURF1 | c.590T= (p.Ile197=) n.500T= n.580T= c.263T= (p.Ile88=) | |
| 9 | g.133352607A>C | CA375693942 | SURF1 | c.590T>G (p.Ile197Ser) n.500T>G n.580T>G c.263T>G (p.Ile88Ser) | |
| 9 | g.133352607A>G | CA200832421 | SURF1 | c.590T>C (p.Ile197Thr) n.500T>C n.580T>C c.263T>C (p.Ile88Thr) | ClinVar dbSNP dbSNP gnomAD v4 |
| 9 | g.133352607A>T | CA375693943 | SURF1 | c.590T>A (p.Ile197Asn) n.500T>A n.580T>A c.263T>A (p.Ile88Asn) | |
| 9 | g.133352607_133352608insCCCAAACACACCCAACACA | CA2786166153 | SURF1 | c.590_591insGTGTTGGGTGTGTTTGGGT (p.Ile197MetfsTer8) n.500_501insGTGTTGGGTGTGTTTGGGT n.580_581insGTGTTGGGTGTGTTTGGGT c.263_264insGTGTTGGGTGTGTTTGGGT (p.Ile88MetfsTer8) | |
| 9 | g.133352608T>A | CA375693944 | SURF1 | c.589A>T (p.Ile197Phe) n.499A>T n.579A>T c.262A>T (p.Ile88Phe) | |
| 9 | g.133352608T>C | CA375693945 | SURF1 | c.589A>G (p.Ile197Val) n.499A>G n.579A>G c.262A>G (p.Ile88Val) | |
| 9 | g.133352608T>G | CA375693946 | SURF1 | c.589A>C (p.Ile197Leu) n.499A>C n.579A>C c.262A>C (p.Ile88Leu) | |
| 9 | g.133352609C>A | CA325187 | SURF1 | c.589-1G>T (n.589-1G>T) n.499-1G>T n.579-1G>T c.262-1G>T (n.262-1G>T) | ClinVar dbSNP dbSNP |
| 9 | g.133352609C= | CA1882634287 | SURF1 | c.589-1G= (n.589-1G=) n.499-1G= n.579-1G= c.262-1G= (n.262-1G=) | |
| 9 | g.133352609C>G | CA375693947 | SURF1 | c.589-1G>C (n.589-1G>C) n.499-1G>C n.579-1G>C c.262-1G>C (n.262-1G>C) | ClinVar |
| 9 | g.133352609C>T | CA375693948 | SURF1 | c.589-1G>A (n.589-1G>A) n.499-1G>A n.579-1G>A c.262-1G>A (n.262-1G>A) | |
| 9 | g.133352610T>A | CA375693949 | SURF1 | c.589-2A>T (n.589-2A>T) n.499-2A>T n.579-2A>T c.262-2A>T (n.262-2A>T) | |
| 9 | g.133352610T>C | CA200832424 | SURF1 | c.589-2A>G (n.589-2A>G) n.499-2A>G n.579-2A>G c.262-2A>G (n.262-2A>G) | dbSNP gnomAD v4 |
| 9 | g.133352610T>G | CA375693950 | SURF1 | c.589-2A>C (n.589-2A>C) n.499-2A>C n.579-2A>C c.262-2A>C (n.262-2A>C) | |
| 9 | g.133352610T= | CA1882634292 | SURF1 | c.589-2A= (n.589-2A=) n.499-2A= n.579-2A= c.262-2A= (n.262-2A=) | |
| 9 | g.133352612_133352613del | CA2692339295 | SURF1 | c.589-3_589-2del (n.589-3_589-2del) n.499-3_499-2del n.579-3_579-2del c.262-3_262-2del (n.262-3_262-2del) | gnomAD v4 |
| 9 | g.133352610_133352614delinsTATAA | CA1882634293 | SURF1 | c.589-6_589-2delinsTTATA (n.589-6_589-2delinsTTATA) n.499-6_499-2delinsTTATA n.579-6_579-2delinsTTATA c.262-6_262-2delinsTTATA (n.262-6_262-2delinsTTATA) | |
| 9 | g.133352611A= | CA1882634297 | SURF1 | c.589-3T= (n.589-3T=) n.499-3T= n.579-3T= c.262-3T= (n.262-3T=) | |
| 9 | g.133352611A>G | CA200832429 | SURF1 | c.589-3T>C (n.589-3T>C) n.499-3T>C n.579-3T>C c.262-3T>C (n.262-3T>C) | dbSNP dbSNP gnomAD v4 |
| 9 | g.133352612_133352615del | CA200832427 | SURF1 | c.589-6_589-3del (n.589-6_589-3del) n.499-6_499-3del n.579-6_579-3del c.262-6_262-3del (n.262-6_262-3del) | dbSNP gnomAD v4 |
| 9 | g.133352612T>C | CA2573144049 | SURF1 | c.589-4A>G (n.589-4A>G) n.499-4A>G n.579-4A>G c.262-4A>G (n.262-4A>G) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133352613A= | CA1882634301 | SURF1 | c.589-5T= (n.589-5T=) n.499-5T= n.579-5T= c.262-5T= (n.262-5T=) | |
| 9 | g.133352613A>G | CA200832431 | SURF1 | c.589-5T>C (n.589-5T>C) n.499-5T>C n.579-5T>C c.262-5T>C (n.262-5T>C) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352614A= | CA1882634302 | SURF1 | c.589-6T= (n.589-6T=) n.499-6T= n.579-6T= c.262-6T= (n.262-6T=) | |
| 9 | g.133352614A>G | CA1882634303 | SURF1 | c.589-6T>C (n.589-6T>C) n.499-6T>C n.579-6T>C c.262-6T>C (n.262-6T>C) | dbSNP gnomAD v4 |
| 9 | g.133352615A>G | CA2697558160 | SURF1 | c.589-7T>C (n.589-7T>C) n.499-7T>C n.579-7T>C c.262-7T>C (n.262-7T>C) | ClinVar |
| 9 | g.133352616G>A | CA200832433 | SURF1 | c.589-8C>T (n.589-8C>T) n.499-8C>T n.579-8C>T c.262-8C>T (n.262-8C>T) | ClinVar dbSNP dbSNP gnomAD v4 |
| 9 | g.133352616G= | CA1882634304 | SURF1 | c.589-8C= (n.589-8C=) n.499-8C= n.579-8C= c.262-8C= (n.262-8C=) |