Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.133352746_133352750delinsCTATT | CA1882634529 | SURF1 | c.532_536delinsAATAG (p.Asn178=) n.462-20_462-16delinsAATAG n.522_526delinsAATAG c.205_209delinsAATAG (p.Asn69=) | |
9 | g.133352748_133352749del | CA645372876 | SURF1 | c.534_535del (p.Asn178LysfsTer12) n.462-18_462-17del n.524_525del c.207_208del (p.Asn69LysfsTer12) | ClinVar dbSNP dbSNP gnomAD v4 |
9 | g.133352749_133352752del | CA16042768 | SURF1 | c.532_535del (p.Asn178GlufsTer9) n.462-20_462-17del n.522_525del c.205_208del (p.Asn69GlufsTer9) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.133352749T>A | CA375694076 | SURF1 | c.533A>T (p.Asn178Ile) n.462-19A>T n.523A>T c.206A>T (p.Asn69Ile) | |
9 | g.133352749T>C | CA375694074 | SURF1 | c.533A>G (p.Asn178Ser) n.462-19A>G n.523A>G c.206A>G (p.Asn69Ser) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133352749T>G | CA375694075 | SURF1 | c.533A>C (p.Asn178Thr) n.462-19A>C n.523A>C c.206A>C (p.Asn69Thr) | |
9 | g.133352749T= | CA1882634541 | SURF1 | c.533A= (p.Asn178=) n.462-19A= n.523A= c.206A= (p.Asn69=) | |
9 | g.133352751dup | CA2692339673 | SURF1 | c.533dup (p.Asn178LysfsTer2) n.462-19dup n.523dup c.206dup (p.Asn69LysfsTer2) | ClinVar gnomAD v4 |
9 | g.133352750T>A | CA375694077 | SURF1 | c.532A>T (p.Asn178Tyr) n.462-20A>T n.522A>T c.205A>T (p.Asn69Tyr) | ClinVar dbSNP |
9 | g.133352750T>C | CA200832526 | SURF1 | c.532A>G (p.Asn178Asp) n.462-20A>G n.522A>G c.205A>G (p.Asn69Asp) | dbSNP dbSNP gnomAD v3 gnomAD v4 |
9 | g.133352750T>G | CA375694078 | SURF1 | c.532A>C (p.Asn178His) n.462-20A>C n.522A>C c.205A>C (p.Asn69His) | |
9 | g.133352750T= | CA1882634547 | SURF1 | c.532A= (p.Asn178=) n.462-20A= n.522A= c.205A= (p.Asn69=) | |
9 | g.133352751T>C | CA860708421 | SURF1 | c.531A>G (p.Val177=) n.462-21A>G n.521A>G c.204A>G (p.Val68=) | ClinVar dbSNP |
9 | g.133352751T= | CA1882634549 | SURF1 | c.531A= (p.Val177=) n.462-21A= n.521A= c.204A= (p.Val68=) | |
9 | g.133352752A>C | CA375694079 | SURF1 | c.530T>G (p.Val177Gly) n.462-22T>G n.520T>G c.203T>G (p.Val68Gly) | |
9 | g.133352752A>G | CA375694080 | SURF1 | c.530T>C (p.Val177Ala) n.462-22T>C n.520T>C c.203T>C (p.Val68Ala) | |
9 | g.133352752A>T | CA375694081 | SURF1 | c.530T>A (p.Val177Glu) n.462-22T>A n.520T>A c.203T>A (p.Val68Glu) | |
9 | g.133352753C>A | CA375694083 | SURF1 | c.529G>T (p.Val177Leu) n.462-23G>T n.519G>T c.202G>T (p.Val68Leu) | |
9 | g.133352753C>G | CA375694084 | SURF1 | c.529G>C (p.Val177Leu) n.462-23G>C n.519G>C c.202G>C (p.Val68Leu) | |
9 | g.133352753C>T | CA375694082 | SURF1 | c.529G>A (p.Val177Ile) n.462-23G>A n.519G>A c.202G>A (p.Val68Ile) | |
9 | g.133352754del | CA2695211599 | SURF1 | c.529del (p.Val177Ter) n.462-23del n.519del c.202del (p.Val68Ter) | |
9 | g.133352754C= | CA1882634551 | SURF1 | c.528G= (p.Leu176=) n.462-24G= n.518G= c.201G= (p.Leu67=) | |
9 | g.133352754C>T | CA200832528 | SURF1 | c.528G>A (p.Leu176=) n.462-24G>A n.518G>A c.201G>A (p.Leu67=) | dbSNP gnomAD v4 |
9 | g.133352755del | CA2697558164 | SURF1 | c.527del (p.Leu176ArgfsTer2) n.462-25del n.517del c.200del (p.Leu67ArgfsTer2) | ClinVar |
9 | g.133352755A>C | CA375694085 | SURF1 | c.527T>G (p.Leu176Arg) n.462-25T>G n.517T>G c.200T>G (p.Leu67Arg) | |
9 | g.133352755A>G | CA375694087 | SURF1 | c.527T>C (p.Leu176Pro) n.462-25T>C n.517T>C c.200T>C (p.Leu67Pro) | |
9 | g.133352755A>T | CA375694086 | SURF1 | c.527T>A (p.Leu176Gln) n.462-25T>A n.517T>A c.200T>A (p.Leu67Gln) | |
9 | g.133352756G>A | CA2692339687 | SURF1 | c.526C>T (p.Leu176=) n.462-26C>T n.516C>T c.199C>T (p.Leu67=) | gnomAD v4 |
9 | g.133352756G>C | CA375694088 | SURF1 | c.526C>G (p.Leu176Val) n.462-26C>G n.516C>G c.199C>G (p.Leu67Val) | gnomAD v4 |
9 | g.133352756G>T | CA375694089 | SURF1 | c.526C>A (p.Leu176Met) n.462-26C>A n.516C>A c.199C>A (p.Leu67Met) | |
9 | g.133352757G>A | CA200832532 | SURF1 | c.525C>T (p.Ile175=) n.462-27C>T n.515C>T c.198C>T (p.Ile66=) | ClinVar dbSNP |
9 | g.133352757G>C | CA375694090 | SURF1 | c.525C>G (p.Ile175Met) n.462-27C>G n.515C>G c.198C>G (p.Ile66Met) | |
9 | g.133352757G= | CA1882634553 | SURF1 | c.525C= (p.Ile175=) n.462-27C= n.515C= c.198C= (p.Ile66=) | |
9 | g.133352758A= | CA1882634556 | SURF1 | c.524T= (p.Ile175=) n.462-28T= n.514T= c.197T= (p.Ile66=) | |
9 | g.133352758A>C | CA375694091 | SURF1 | c.524T>G (p.Ile175Ser) n.462-28T>G n.514T>G c.197T>G (p.Ile66Ser) | |
9 | g.133352758A>G | CA375694092 | SURF1 | c.524T>C (p.Ile175Thr) n.462-28T>C n.514T>C c.197T>C (p.Ile66Thr) | |
9 | g.133352758A>T | CA375694093 | SURF1 | c.524T>A (p.Ile175Asn) n.462-28T>A n.514T>A c.197T>A (p.Ile66Asn) | |
9 | g.133352759T>A | CA375694094 | SURF1 | c.523A>T (p.Ile175Phe) n.462-29A>T n.513A>T c.196A>T (p.Ile66Phe) | |
9 | g.133352759T>C | CA375694095 | SURF1 | c.523A>G (p.Ile175Val) n.462-29A>G n.513A>G c.196A>G (p.Ile66Val) | |
9 | g.133352759T>G | CA375694096 | SURF1 | c.523A>C (p.Ile175Leu) n.462-29A>C n.513A>C c.196A>C (p.Ile66Leu) | |
9 | g.133352759_133352762dup | CA860708437 | SURF1 | c.520_523dup (p.Ile175AsnfsTer6) n.462-32_462-29dup n.510_513dup c.193_196dup (p.Ile66AsnfsTer6) | dbSNP gnomAD v4 |
9 | g.133352761G>A | CA375694097 | SURF1 | c.521C>T (p.Thr174Ile) n.462-31C>T n.511C>T c.194C>T (p.Thr65Ile) | dbSNP dbSNP gnomAD v3 gnomAD v4 |
9 | g.133352761G>C | CA375694098 | SURF1 | c.521C>G (p.Thr174Ser) n.462-31C>G n.511C>G c.194C>G (p.Thr65Ser) | |
9 | g.133352761G= | CA1882634560 | SURF1 | c.521C= (p.Thr174=) n.462-31C= n.511C= c.194C= (p.Thr65=) | |
9 | g.133352761G>T | CA375694099 | SURF1 | c.521C>A (p.Thr174Asn) n.462-31C>A n.511C>A c.194C>A (p.Thr65Asn) | |
9 | g.133352762T>A | CA375694100 | SURF1 | c.520A>T (p.Thr174Ser) n.462-32A>T n.510A>T c.193A>T (p.Thr65Ser) | |
9 | g.133352762T>C | CA375694101 | SURF1 | c.520A>G (p.Thr174Ala) n.462-32A>G n.510A>G c.193A>G (p.Thr65Ala) | |
9 | g.133352762T>G | CA375694102 | SURF1 | c.520A>C (p.Thr174Pro) n.462-32A>C n.510A>C c.193A>C (p.Thr65Pro) | |
9 | g.133352764A>C | CA375694103 | SURF1 | c.518T>G (p.Val173Gly) n.462-34T>G n.508T>G c.191T>G (p.Val64Gly) | |
9 | g.133352764A>G | CA375694105 | SURF1 | c.518T>C (p.Val173Ala) n.462-34T>C n.508T>C c.191T>C (p.Val64Ala) |