| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133353793_133353794del | CA2695211601 | SURF1 | c.472_473del (p.Ser158TrpfsTer21) n.418_419del n.462_463del c.145_146del (p.Ser49TrpfsTer21) | |
| 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) | |
| 9 | g.133353796_133353797del | CA2695211602 | SURF1 | c.468_469del (p.Gln157GlufsTer22) n.414_415del n.458_459del c.141_142del (p.Gln48GlufsTer22) | |
| 9 | g.133353796A= | CA1882635644 | SURF1 | c.468T= (p.Thr156=) n.414T= n.458T= c.141T= (p.Thr47=) | |
| 9 | g.133353796A>G | CA200832985 | SURF1 | c.468T>C (p.Thr156=) n.414T>C n.458T>C c.141T>C (p.Thr47=) | ClinVar dbSNP dbSNP gnomAD v4 |
| 9 | g.133353797G>A | CA375694218 | SURF1 | c.467C>T (p.Thr156Ile) n.413C>T n.457C>T c.140C>T (p.Thr47Ile) | |
| 9 | g.133353797G>C | CA375694219 | SURF1 | c.467C>G (p.Thr156Ser) n.413C>G n.457C>G c.140C>G (p.Thr47Ser) | dbSNP |
| 9 | g.133353797G= | CA1882635645 | SURF1 | c.467C= (p.Thr156=) n.413C= n.457C= c.140C= (p.Thr47=) | |
| 9 | g.133353797G>T | CA375694220 | SURF1 | c.467C>A (p.Thr156Asn) n.413C>A n.457C>A c.140C>A (p.Thr47Asn) | |
| 9 | g.133353797_133353799delinsGTT | CA1882635646 | SURF1 | c.465_467delinsAAC (p.Ser155=) n.411_413delinsAAC n.455_457delinsAAC c.138_140delinsAAC (p.Ser46=) | |
| 9 | g.133353798T>A | CA375694221 | SURF1 | c.466A>T (p.Thr156Ser) n.412A>T n.456A>T c.139A>T (p.Thr47Ser) | |
| 9 | g.133353798T>C | CA375694222 | SURF1 | c.466A>G (p.Thr156Ala) n.412A>G n.456A>G c.139A>G (p.Thr47Ala) | |
| 9 | g.133353798T>G | CA375694223 | SURF1 | c.466A>C (p.Thr156Pro) n.412A>C n.456A>C c.139A>C (p.Thr47Pro) | |
| 9 | g.133353798_133353799del | CA913190175 | SURF1 | c.465_466del (p.Thr156SerfsTer23) n.411_412del n.455_456del c.138_139del (p.Thr47SerfsTer23) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133353798_133353809delinsTTGAGGAGGAGA | CA1882635649 | SURF1 | c.455_466delinsTCTCCTCCTCAA (p.Ile152=) n.401_412delinsTCTCCTCCTCAA n.445_456delinsTCTCCTCCTCAA c.128_139delinsTCTCCTCCTCAA (p.Ile43=) | |
| 9 | g.133353799_133353802delinsTGAG | CA1882635651 | SURF1 | c.462_465delinsCTCA (p.Ser154=) n.408_411delinsCTCA n.452_455delinsCTCA c.135_138delinsCTCA (p.Ser45=) | |
| 9 | g.133353804_133353814del | CA200832988 | SURF1 | c.455_465del (p.Ile152AsnfsTer24) n.401_411del n.445_455del c.128_138del (p.Ile43AsnfsTer24) | dbSNP gnomAD v4 |
| 9 | g.133353800G>A | CA375694225 | SURF1 | c.464C>T (p.Ser155Leu) n.410C>T n.454C>T c.137C>T (p.Ser46Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353800G>C | CA375694226 | SURF1 | c.464C>G (p.Ser155Ter) n.410C>G n.454C>G c.137C>G (p.Ser46Ter) | dbSNP |
| 9 | g.133353800G= | CA1882635653 | SURF1 | c.464C= (p.Ser155=) n.410C= n.454C= c.137C= (p.Ser46=) | |
| 9 | g.133353800G>T | CA375694224 | SURF1 | c.464C>A (p.Ser155Ter) n.410C>A n.454C>A c.137C>A (p.Ser46Ter) | |
| 9 | g.133353806_133353808del | CA200832991 | SURF1 | c.462_464del (p.Ser155del) n.408_410del n.452_454del c.135_137del (p.Ser46del) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353801A= | CA1882635655 | SURF1 | c.463T= (p.Ser155=) n.409T= n.453T= c.136T= (p.Ser46=) | |
| 9 | g.133353801A>C | CA375694228 | SURF1 | c.463T>G (p.Ser155Ala) n.409T>G n.453T>G c.136T>G (p.Ser46Ala) | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353801A>G | CA375694227 | SURF1 | c.463T>C (p.Ser155Pro) n.409T>C n.453T>C c.136T>C (p.Ser46Pro) | gnomAD v4 |
| 9 | g.133353801A>T | CA375694229 | SURF1 | c.463T>A (p.Ser155Thr) n.409T>A n.453T>A c.136T>A (p.Ser46Thr) | |
| 9 | g.133353802G>A | CA860709300 | SURF1 | c.462C>T (p.Ser154=) n.408C>T n.452C>T c.135C>T (p.Ser45=) | dbSNP gnomAD v4 |
| 9 | g.133353802G= | CA1882635657 | SURF1 | c.462C= (p.Ser154=) n.408C= n.452C= c.135C= (p.Ser45=) | |
| 9 | g.133353803G>A | CA375694230 | SURF1 | c.461C>T (p.Ser154Phe) n.407C>T n.451C>T c.134C>T (p.Ser45Phe) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353803G>C | CA375694232 | SURF1 | c.461C>G (p.Ser154Cys) n.407C>G n.451C>G c.134C>G (p.Ser45Cys) | |
| 9 | g.133353803G= | CA1882635658 | SURF1 | c.461C= (p.Ser154=) n.407C= n.451C= c.134C= (p.Ser45=) | |
| 9 | g.133353803G>T | CA375694231 | SURF1 | c.461C>A (p.Ser154Tyr) n.407C>A n.451C>A c.134C>A (p.Ser45Tyr) | |
| 9 | g.133353804A>C | CA375694233 | SURF1 | c.460T>G (p.Ser154Ala) n.406T>G n.450T>G c.133T>G (p.Ser45Ala) | |
| 9 | g.133353804A>G | CA375694235 | SURF1 | c.460T>C (p.Ser154Pro) n.406T>C n.450T>C c.133T>C (p.Ser45Pro) | |
| 9 | g.133353804A>T | CA375694234 | SURF1 | c.460T>A (p.Ser154Thr) n.406T>A n.450T>A c.133T>A (p.Ser45Thr) | |
| 9 | g.133353805G>T | CA2697558166 | SURF1 | c.459C>A (p.Ser153=) n.405C>A n.449C>A c.132C>A (p.Ser44=) | ClinVar |
| 9 | g.133353806G>A | CA375694236 | SURF1 | c.458C>T (p.Ser153Phe) n.404C>T n.448C>T c.131C>T (p.Ser44Phe) | gnomAD v4 |
| 9 | g.133353806G>C | CA375694238 | SURF1 | c.458C>G (p.Ser153Cys) n.404C>G n.448C>G c.131C>G (p.Ser44Cys) |