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.133353782T>A | CA375694186 | SURF1 | c.482A>T (p.Tyr161Phe) n.428A>T n.472A>T c.155A>T (p.Tyr52Phe) | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353782T>C | CA200832976 | SURF1 | c.482A>G (p.Tyr161Cys) n.428A>G n.472A>G c.155A>G (p.Tyr52Cys) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353782T>G | CA375694187 | SURF1 | c.482A>C (p.Tyr161Ser) n.428A>C n.472A>C c.155A>C (p.Tyr52Ser) | |
| 9 | g.133353782T= | CA1882635624 | SURF1 | c.482A= (p.Tyr161=) n.428A= n.472A= c.155A= (p.Tyr52=) | |
| 9 | g.133353783A>C | CA375694188 | SURF1 | c.481T>G (p.Tyr161Asp) n.427T>G n.471T>G c.154T>G (p.Tyr52Asp) | |
| 9 | g.133353783A>G | CA375694189 | SURF1 | c.481T>C (p.Tyr161His) n.427T>C n.471T>C c.154T>C (p.Tyr52His) | |
| 9 | g.133353783A>T | CA375694190 | SURF1 | c.481T>A (p.Tyr161Asn) n.427T>A n.471T>A c.154T>A (p.Tyr52Asn) | |
| 9 | g.133353784G>A | CA200832979 | SURF1 | c.480C>T (p.Ala160=) n.426C>T n.470C>T c.153C>T (p.Ala51=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133353784G= | CA1882635627 | SURF1 | c.480C= (p.Ala160=) n.426C= n.470C= c.153C= (p.Ala51=) | |
| 9 | g.133353784G>T | CA2692340439 | SURF1 | c.480C>A (p.Ala160=) n.426C>A n.470C>A c.153C>A (p.Ala51=) | gnomAD v4 |
| 9 | g.133353785G>A | CA375694191 | SURF1 | c.479C>T (p.Ala160Val) n.425C>T n.469C>T c.152C>T (p.Ala51Val) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353785G>C | CA375694192 | SURF1 | c.479C>G (p.Ala160Gly) n.425C>G n.469C>G c.152C>G (p.Ala51Gly) | |
| 9 | g.133353785G= | CA1882635629 | SURF1 | c.479C= (p.Ala160=) n.425C= n.469C= c.152C= (p.Ala51=) | |
| 9 | g.133353785G>T | CA375694193 | SURF1 | c.479C>A (p.Ala160Asp) n.425C>A n.469C>A c.152C>A (p.Ala51Asp) | |
| 9 | g.133353786C>A | CA375694194 | SURF1 | c.478G>T (p.Ala160Ser) n.424G>T n.468G>T c.151G>T (p.Ala51Ser) | |
| 9 | g.133353786C>G | CA375694195 | SURF1 | c.478G>C (p.Ala160Pro) n.424G>C n.468G>C c.151G>C (p.Ala51Pro) | |
| 9 | g.133353786C>T | CA375694196 | SURF1 | c.478G>A (p.Ala160Thr) n.424G>A n.468G>A c.151G>A (p.Ala51Thr) | gnomAD v4 |
| 9 | g.133353789dup | CA2692340443 | SURF1 | c.478dup (p.Ala160GlyfsTer20) n.424dup n.468dup c.151dup (p.Ala51GlyfsTer20) | gnomAD v4 |
| 9 | g.133353788C>A | CA375694198 | SURF1 | c.476G>T (p.Gly159Val) n.422G>T n.466G>T c.149G>T (p.Gly50Val) | |
| 9 | g.133353788C= | CA1882635630 | SURF1 | c.476G= (p.Gly159=) n.422G= n.466G= c.149G= (p.Gly50=) | |
| 9 | g.133353788C>G | CA375694199 | SURF1 | c.476G>C (p.Gly159Ala) n.422G>C n.466G>C c.149G>C (p.Gly50Ala) | |
| 9 | g.133353788C>T | CA375694197 | SURF1 | c.476G>A (p.Gly159Glu) n.422G>A n.466G>A c.149G>A (p.Gly50Glu) | dbSNP gnomAD v4 |
| 9 | g.133353789C>A | CA200832982 | SURF1 | c.475G>T (p.Gly159Trp) n.421G>T n.465G>T c.148G>T (p.Gly50Trp) | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353789C= | CA1882635632 | SURF1 | c.475G= (p.Gly159=) n.421G= n.465G= c.148G= (p.Gly50=) | |
| 9 | g.133353789C>G | CA375694200 | SURF1 | c.475G>C (p.Gly159Arg) n.421G>C n.465G>C c.148G>C (p.Gly50Arg) | |
| 9 | g.133353789C>T | CA375694201 | SURF1 | c.475G>A (p.Gly159Arg) n.421G>A n.465G>A c.148G>A (p.Gly50Arg) | |
| 9 | g.133353790A= | CA1882635634 | SURF1 | c.474T= (p.Ser158=) n.420T= n.464T= c.147T= (p.Ser49=) | |
| 9 | g.133353790A>C | CA375694202 | SURF1 | c.474T>G (p.Ser158Arg) n.420T>G n.464T>G c.147T>G (p.Ser49Arg) | |
| 9 | g.133353790A>G | CA200832984 | SURF1 | c.474T>C (p.Ser158=) n.420T>C n.464T>C c.147T>C (p.Ser49=) | dbSNP gnomAD v4 |
| 9 | g.133353790A>T | CA375694203 | SURF1 | c.474T>A (p.Ser158Arg) n.420T>A n.464T>A c.147T>A (p.Ser49Arg) | |
| 9 | g.133353791C>A | CA375694206 | SURF1 | c.473G>T (p.Ser158Ile) n.419G>T n.463G>T c.146G>T (p.Ser49Ile) | |
| 9 | g.133353791C>G | CA375694204 | SURF1 | c.473G>C (p.Ser158Thr) n.419G>C n.463G>C c.146G>C (p.Ser49Thr) | |
| 9 | g.133353791C>T | CA375694205 | SURF1 | c.473G>A (p.Ser158Asn) n.419G>A n.463G>A c.146G>A (p.Ser49Asn) | |
| 9 | g.133353793_133353794del | CA2695211601 | SURF1 | c.472_473del (p.Ser158TrpfsTer21) n.418_419del n.462_463del c.145_146del (p.Ser49TrpfsTer21) | |
| 9 | g.133353792T>A | CA375694207 | SURF1 | c.472A>T (p.Ser158Cys) n.418A>T n.462A>T c.145A>T (p.Ser49Cys) | |
| 9 | g.133353792T>C | CA375694208 | SURF1 | c.472A>G (p.Ser158Gly) n.418A>G n.462A>G c.145A>G (p.Ser49Gly) | |
| 9 | g.133353792T>G | CA375694209 | SURF1 | c.472A>C (p.Ser158Arg) n.418A>C n.462A>C c.145A>C (p.Ser49Arg) | |
| 9 | g.133353793C>A | CA375694210 | SURF1 | c.471G>T (p.Gln157His) n.417G>T n.461G>T c.144G>T (p.Gln48His) | |
| 9 | g.133353793C>G | CA375694211 | SURF1 | c.471G>C (p.Gln157His) n.417G>C n.461G>C c.144G>C (p.Gln48His) | |
| 9 | g.133353793C>T | CA2692340458 | SURF1 | c.471G>A (p.Gln157=) n.417G>A n.461G>A c.144G>A (p.Gln48=) | gnomAD v4 |
| 9 | g.133353793_133353795delinsCTG | CA1882635637 | SURF1 | c.469_471delinsCAG (p.Gln157=) n.415_417delinsCAG n.459_461delinsCAG c.142_144delinsCAG (p.Gln48=) | |
| 9 | g.133353794T>A | CA375694212 | SURF1 | c.470A>T (p.Gln157Leu) n.416A>T n.460A>T c.143A>T (p.Gln48Leu) | |
| 9 | g.133353794T>C | CA375694214 | SURF1 | c.470A>G (p.Gln157Arg) n.416A>G n.460A>G c.143A>G (p.Gln48Arg) | gnomAD v4 |
| 9 | g.133353794T>G | CA375694213 | SURF1 | c.470A>C (p.Gln157Pro) n.416A>C n.460A>C c.143A>C (p.Gln48Pro) | |
| 9 | g.133353794dup | CA2692340462 | SURF1 | c.470dup (p.Ser158GlufsTer22) n.416dup n.460dup c.143dup (p.Ser49GlufsTer22) | ClinVar gnomAD v4 |
| 9 | g.133353794_133353795del | CA1882635639 | SURF1 | c.469_470del (p.Gln157GlufsTer22) n.415_416del n.459_460del c.142_143del (p.Gln48GlufsTer22) | dbSNP |
| 9 | g.133353795G>A | CA375694215 | SURF1 | c.469C>T (p.Gln157Ter) n.415C>T n.459C>T c.142C>T (p.Gln48Ter) | dbSNP COSMIC |
| 9 | g.133353795G>C | CA375694216 | SURF1 | c.469C>G (p.Gln157Glu) n.415C>G n.459C>G c.142C>G (p.Gln48Glu) | |
| 9 | g.133353795G= | CA1882635642 | SURF1 | c.469C= (p.Gln157=) n.415C= n.459C= c.142C= (p.Gln48=) | |
| 9 | g.133353795G>T | CA375694217 | SURF1 | c.469C>A (p.Gln157Lys) n.415C>A n.459C>A c.142C>A (p.Gln48Lys) |