| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.70946064_70946175delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT | CA1554172347 | SMN1 | c.724-2_833delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT c.628-2_737delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT n.291-2_400delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT c.523-2_632delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT n.241-2_350delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT c.427-2_536delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT | |
| 5 | g.70946066_70946176del | CA645372410 | SMN1 | c.724_834del c.628_738del n.291_401del c.523_633del n.241_351del c.427_537del | ClinVar dbSNP |
| 5 | g.70946066_70951991del | CA1139658875 | SMN1 | c.724_885del c.628_789del c.724_835-448del c.724_*59-448del c.523_684del c.427_588del c.628_739-448del | ClinVar |
| 5 | g.70946127G>A | CA360096956 | SMN1 | c.785G>A (p.Ser262Asn) c.689G>A (p.Ser230Asn) n.39G>A n.352G>A c.584G>A (p.Ser195Asn) n.302G>A c.488G>A (p.Ser163Asn) | |
| 5 | g.70946127G>C | CA360096960 | SMN1 | c.785G>C (p.Ser262Thr) c.689G>C (p.Ser230Thr) n.39G>C n.352G>C c.584G>C (p.Ser195Thr) n.302G>C c.488G>C (p.Ser163Thr) | |
| 5 | g.70946127G= | CA1554172353 | SMN1 | c.785G= (p.Ser262=) c.689G= (p.Ser230=) n.39G= n.352G= c.584G= (p.Ser195=) n.302G= c.488G= (p.Ser163=) | |
| 5 | g.70946127G>T | CA254675 | SMN1 | c.785G>T (p.Ser262Ile) c.689G>T (p.Ser230Ile) n.39G>T n.352G>T c.584G>T (p.Ser195Ile) n.302G>T c.488G>T (p.Ser163Ile) | ClinVar dbSNP |
| 5 | g.70946128T>A | CA360096964 | SMN1 | c.786T>A (p.Ser262Arg) c.690T>A (p.Ser230Arg) n.40T>A n.353T>A c.585T>A (p.Ser195Arg) n.303T>A c.489T>A (p.Ser163Arg) | |
| 5 | g.70946128T>C | CA444972852 | SMN1 | c.786T>C (p.Ser262=) c.690T>C (p.Ser230=) n.40T>C n.353T>C c.585T>C (p.Ser195=) n.303T>C c.489T>C (p.Ser163=) | |
| 5 | g.70946128T>G | CA360096967 | SMN1 | c.786T>G (p.Ser262Arg) c.690T>G (p.Ser230Arg) n.40T>G n.353T>G c.585T>G (p.Ser195Arg) n.303T>G c.489T>G (p.Ser163Arg) | |
| 5 | g.70946129A>C | CA360096971 | SMN1 | c.787A>C (p.Met263Leu) c.691A>C (p.Met231Leu) n.41A>C n.354A>C c.586A>C (p.Met196Leu) n.304A>C c.490A>C (p.Met164Leu) | |
| 5 | g.70946129A>G | CA360096977 | SMN1 | c.787A>G (p.Met263Val) c.691A>G (p.Met231Val) n.41A>G n.354A>G c.586A>G (p.Met196Val) n.304A>G c.490A>G (p.Met164Val) | |
| 5 | g.70946129A>T | CA360096974 | SMN1 | c.787A>T (p.Met263Leu) c.691A>T (p.Met231Leu) n.41A>T n.354A>T c.586A>T (p.Met196Leu) n.304A>T c.490A>T (p.Met164Leu) | gnomAD v3 gnomAD v4 |
| 5 | g.70946130T>A | CA360096982 | SMN1 | c.788T>A (p.Met263Lys) c.692T>A (p.Met231Lys) n.42T>A n.355T>A c.587T>A (p.Met196Lys) n.305T>A c.491T>A (p.Met164Lys) | |
| 5 | g.70946130T>C | CA360096984 | SMN1 | c.788T>C (p.Met263Thr) c.692T>C (p.Met231Thr) n.42T>C n.355T>C c.587T>C (p.Met196Thr) n.305T>C c.491T>C (p.Met164Thr) | |
| 5 | g.70946130T>G | CA360096988 | SMN1 | c.788T>G (p.Met263Arg) c.692T>G (p.Met231Arg) n.42T>G n.355T>G c.587T>G (p.Met196Arg) n.305T>G c.491T>G (p.Met164Arg) | |
| 5 | g.70946131G>A | CA360096994 | SMN1 | c.789G>A (p.Met263Ile) c.693G>A (p.Met231Ile) n.43G>A n.356G>A c.588G>A (p.Met196Ile) n.306G>A c.492G>A (p.Met164Ile) | |
| 5 | g.70946131G>C | CA360096995 | SMN1 | c.789G>C (p.Met263Ile) c.693G>C (p.Met231Ile) n.43G>C n.356G>C c.588G>C (p.Met196Ile) n.306G>C c.492G>C (p.Met164Ile) | |
| 5 | g.70946131G>T | CA360096996 | SMN1 | c.789G>T (p.Met263Ile) c.693G>T (p.Met231Ile) n.43G>T n.356G>T c.588G>T (p.Met196Ile) n.306G>T c.492G>T (p.Met164Ile) | |
| 5 | g.70946132T>A | CA360096999 | SMN1 | c.790T>A (p.Leu264Ile) c.694T>A (p.Leu232Ile) n.44T>A n.357T>A c.589T>A (p.Leu197Ile) n.307T>A c.493T>A (p.Leu165Ile) | |
| 5 | g.70946132T>C | CA444972912 | SMN1 | c.790T>C (p.Leu264=) c.694T>C (p.Leu232=) n.44T>C n.357T>C c.589T>C (p.Leu197=) n.307T>C c.493T>C (p.Leu165=) | |
| 5 | g.70946132T>G | CA360097002 | SMN1 | c.790T>G (p.Leu264Val) c.694T>G (p.Leu232Val) n.44T>G n.357T>G c.589T>G (p.Leu197Val) n.307T>G c.493T>G (p.Leu165Val) | |
| 5 | g.70946133T>A | CA360097007 | SMN1 | c.791T>A (p.Leu264Ter) c.695T>A (p.Leu232Ter) n.45T>A n.358T>A c.590T>A (p.Leu197Ter) n.308T>A c.494T>A (p.Leu165Ter) | |
| 5 | g.70946133T>C | CA360097009 | SMN1 | c.791T>C (p.Leu264Ser) c.695T>C (p.Leu232Ser) n.45T>C n.358T>C c.590T>C (p.Leu197Ser) n.308T>C c.494T>C (p.Leu165Ser) | |
| 5 | g.70946133T>G | CA360097010 | SMN1 | c.791T>G (p.Leu264Ter) c.695T>G (p.Leu232Ter) n.45T>G n.358T>G c.590T>G (p.Leu197Ter) n.308T>G c.494T>G (p.Leu165Ter) | |
| 5 | g.70946134A>C | CA360097012 | SMN1 | c.792A>C (p.Leu264Phe) c.696A>C (p.Leu232Phe) n.46A>C n.359A>C c.591A>C (p.Leu197Phe) n.309A>C c.495A>C (p.Leu165Phe) | gnomAD v4 |
| 5 | g.70946134A>G | CA444972926 | SMN1 | c.792A>G (p.Leu264=) c.696A>G (p.Leu232=) n.46A>G n.359A>G c.591A>G (p.Leu197=) n.309A>G c.495A>G (p.Leu165=) | |
| 5 | g.70946134A>T | CA360097014 | SMN1 | c.792A>T (p.Leu264Phe) c.696A>T (p.Leu232Phe) n.46A>T n.359A>T c.591A>T (p.Leu197Phe) n.309A>T c.495A>T (p.Leu165Phe) | |
| 5 | g.70946135A>C | CA360097024 | SMN1 | c.793A>C (p.Ile265Leu) c.697A>C (p.Ile233Leu) n.47A>C n.360A>C c.592A>C (p.Ile198Leu) n.310A>C c.496A>C (p.Ile166Leu) | |
| 5 | g.70946135A>G | CA360097021 | SMN1 | c.793A>G (p.Ile265Val) c.697A>G (p.Ile233Val) n.47A>G n.360A>G c.592A>G (p.Ile198Val) n.310A>G c.496A>G (p.Ile166Val) | |
| 5 | g.70946135A>T | CA360097018 | SMN1 | c.793A>T (p.Ile265Phe) c.697A>T (p.Ile233Phe) n.47A>T n.360A>T c.592A>T (p.Ile198Phe) n.310A>T c.496A>T (p.Ile166Phe) | |
| 5 | g.70946136T>A | CA360097029 | SMN1 | c.794T>A (p.Ile265Asn) c.698T>A (p.Ile233Asn) n.48T>A n.361T>A c.593T>A (p.Ile198Asn) n.311T>A c.497T>A (p.Ile166Asn) | |
| 5 | g.70946136T>C | CA360097037 | SMN1 | c.794T>C (p.Ile265Thr) c.698T>C (p.Ile233Thr) n.48T>C n.361T>C c.593T>C (p.Ile198Thr) n.311T>C c.497T>C (p.Ile166Thr) | |
| 5 | g.70946136T>G | CA360097041 | SMN1 | c.794T>G (p.Ile265Ser) c.698T>G (p.Ile233Ser) n.48T>G n.361T>G c.593T>G (p.Ile198Ser) n.311T>G c.497T>G (p.Ile166Ser) | |
| 5 | g.70946137T>A | CA444972963 | SMN1 | c.795T>A (p.Ile265=) c.699T>A (p.Ile233=) n.49T>A n.362T>A c.594T>A (p.Ile198=) n.312T>A c.498T>A (p.Ile166=) | |
| 5 | g.70946137T>C | CA444972972 | SMN1 | c.795T>C (p.Ile265=) c.699T>C (p.Ile233=) n.49T>C n.362T>C c.594T>C (p.Ile198=) n.312T>C c.498T>C (p.Ile166=) | |
| 5 | g.70946137T>G | CA360097046 | SMN1 | c.795T>G (p.Ile265Met) c.699T>G (p.Ile233Met) n.49T>G n.362T>G c.594T>G (p.Ile198Met) n.312T>G c.498T>G (p.Ile166Met) | |
| 5 | g.70946138T>A | CA360097049 | SMN1 | c.796T>A (p.Ser266Thr) c.700T>A (p.Ser234Thr) n.50T>A n.363T>A c.595T>A (p.Ser199Thr) n.313T>A c.499T>A (p.Ser167Thr) | |
| 5 | g.70946138T>C | CA360097052 | SMN1 | c.796T>C (p.Ser266Pro) c.700T>C (p.Ser234Pro) n.50T>C n.363T>C c.595T>C (p.Ser199Pro) n.313T>C c.499T>C (p.Ser167Pro) | ClinVar dbSNP |
| 5 | g.70946138T>G | CA360097055 | SMN1 | c.796T>G (p.Ser266Ala) c.700T>G (p.Ser234Ala) n.50T>G n.363T>G c.595T>G (p.Ser199Ala) n.313T>G c.499T>G (p.Ser167Ala) | |
| 5 | g.70946138T= | CA1554172354 | SMN1 | c.796T= (p.Ser266=) c.700T= (p.Ser234=) n.50T= n.363T= c.595T= (p.Ser199=) n.313T= c.499T= (p.Ser167=) | |
| 5 | g.70946139C>A | CA360097059 | SMN1 | c.797C>A (p.Ser266Ter) c.701C>A (p.Ser234Ter) n.51C>A n.364C>A c.596C>A (p.Ser199Ter) n.314C>A c.500C>A (p.Ser167Ter) | |
| 5 | g.70946139C>G | CA360097069 | SMN1 | c.797C>G (p.Ser266Ter) c.701C>G (p.Ser234Ter) n.51C>G n.364C>G c.596C>G (p.Ser199Ter) n.314C>G c.500C>G (p.Ser167Ter) | |
| 5 | g.70946139C>T | CA360097072 | SMN1 | c.797C>T (p.Ser266Leu) c.701C>T (p.Ser234Leu) n.51C>T n.364C>T c.596C>T (p.Ser199Leu) n.314C>T c.500C>T (p.Ser167Leu) | |
| 5 | g.70946140A>C | CA444972992 | SMN1 | c.798A>C (p.Ser266=) c.702A>C (p.Ser234=) n.52A>C n.365A>C c.597A>C (p.Ser199=) n.315A>C c.501A>C (p.Ser167=) | |
| 5 | g.70946140A>G | CA444973003 | SMN1 | c.798A>G (p.Ser266=) c.702A>G (p.Ser234=) n.52A>G n.365A>G c.597A>G (p.Ser199=) n.315A>G c.501A>G (p.Ser167=) | gnomAD v4 |
| 5 | g.70946140A>T | CA444972997 | SMN1 | c.798A>T (p.Ser266=) c.702A>T (p.Ser234=) n.52A>T n.365A>T c.597A>T (p.Ser199=) n.315A>T c.501A>T (p.Ser167=) | |
| 5 | g.70946141T>A | CA360097077 | SMN1 | c.799T>A (p.Trp267Arg) c.703T>A (p.Trp235Arg) n.53T>A n.366T>A c.598T>A (p.Trp200Arg) n.316T>A c.502T>A (p.Trp168Arg) | |
| 5 | g.70946141T>C | CA360097082 | SMN1 | c.799T>C (p.Trp267Arg) c.703T>C (p.Trp235Arg) n.53T>C n.366T>C c.598T>C (p.Trp200Arg) n.316T>C c.502T>C (p.Trp168Arg) | |
| 5 | g.70946141T>G | CA360097085 | SMN1 | c.799T>G (p.Trp267Gly) c.703T>G (p.Trp235Gly) n.53T>G n.366T>G c.598T>G (p.Trp200Gly) n.316T>G c.502T>G (p.Trp168Gly) |