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.70946112_70946122dup | CA891843195 | SMN1 | c.770_780dup (p.Gly261LeufsTer8) c.674_684dup (p.Gly229LeufsTer8) n.24_34dup n.337_347dup c.569_579dup (p.Gly194LeufsTer8) n.287_297dup c.473_483dup (p.Gly162LeufsTer8) | ClinVar dbSNP |
5 | g.70946122G>A | CA444972783 | SMN1 | c.780G>A (p.Leu260=) c.684G>A (p.Leu228=) n.34G>A n.347G>A c.579G>A (p.Leu193=) n.297G>A c.483G>A (p.Leu161=) | |
5 | g.70946122G>C | CA360096926 | SMN1 | c.780G>C (p.Leu260Phe) c.684G>C (p.Leu228Phe) n.34G>C n.347G>C c.579G>C (p.Leu193Phe) n.297G>C c.483G>C (p.Leu161Phe) | |
5 | g.70946122G>T | CA360096930 | SMN1 | c.780G>T (p.Leu260Phe) c.684G>T (p.Leu228Phe) n.34G>T n.347G>T c.579G>T (p.Leu193Phe) n.297G>T c.483G>T (p.Leu161Phe) | gnomAD v4 |
5 | g.70946123G>A | CA360096939 | SMN1 | c.781G>A (p.Gly261Arg) c.685G>A (p.Gly229Arg) n.35G>A n.348G>A c.580G>A (p.Gly194Arg) n.298G>A c.484G>A (p.Gly162Arg) | |
5 | g.70946123G>C | CA360096936 | SMN1 | c.781G>C (p.Gly261Arg) c.685G>C (p.Gly229Arg) n.35G>C n.348G>C c.580G>C (p.Gly194Arg) n.298G>C c.484G>C (p.Gly162Arg) | |
5 | g.70946123G>T | CA360096934 | SMN1 | c.781G>T (p.Gly261Ter) c.685G>T (p.Gly229Ter) n.35G>T n.348G>T c.580G>T (p.Gly194Ter) n.298G>T c.484G>T (p.Gly162Ter) | gnomAD v4 |
5 | g.70946124G>A | CA360096943 | SMN1 | c.782G>A (p.Gly261Glu) c.686G>A (p.Gly229Glu) n.36G>A n.349G>A c.581G>A (p.Gly194Glu) n.299G>A c.485G>A (p.Gly162Glu) | |
5 | g.70946124G>C | CA360096945 | SMN1 | c.782G>C (p.Gly261Ala) c.686G>C (p.Gly229Ala) n.36G>C n.349G>C c.581G>C (p.Gly194Ala) n.299G>C c.485G>C (p.Gly162Ala) | |
5 | g.70946124G>T | CA360096948 | SMN1 | c.782G>T (p.Gly261Val) c.686G>T (p.Gly229Val) n.36G>T n.349G>T c.581G>T (p.Gly194Val) n.299G>T c.485G>T (p.Gly162Val) | gnomAD v4 |
5 | g.70946125A>C | CA444972817 | SMN1 | c.783A>C (p.Gly261=) c.687A>C (p.Gly229=) n.37A>C n.350A>C c.582A>C (p.Gly194=) n.300A>C c.486A>C (p.Gly162=) | |
5 | g.70946125A>G | CA444972819 | SMN1 | c.783A>G (p.Gly261=) c.687A>G (p.Gly229=) n.37A>G n.350A>G c.582A>G (p.Gly194=) n.300A>G c.486A>G (p.Gly162=) | |
5 | g.70946125A>T | CA444972818 | SMN1 | c.783A>T (p.Gly261=) c.687A>T (p.Gly229=) n.37A>T n.350A>T c.582A>T (p.Gly194=) n.300A>T c.486A>T (p.Gly162=) | gnomAD v3 gnomAD v4 |
5 | g.70946126A= | CA1554172352 | SMN1 | c.784A= (p.Ser262=) c.688A= (p.Ser230=) n.38A= n.351A= c.583A= (p.Ser195=) n.301A= c.487A= (p.Ser163=) | |
5 | g.70946126A>C | CA360096952 | SMN1 | c.784A>C (p.Ser262Arg) c.688A>C (p.Ser230Arg) n.38A>C n.351A>C c.583A>C (p.Ser195Arg) n.301A>C c.487A>C (p.Ser163Arg) | |
5 | g.70946126A>G | CA254694 | SMN1 | c.784A>G (p.Ser262Gly) c.688A>G (p.Ser230Gly) n.38A>G n.351A>G c.583A>G (p.Ser195Gly) n.301A>G c.487A>G (p.Ser163Gly) | ClinVar dbSNP |
5 | g.70946126A>T | CA360096954 | SMN1 | c.784A>T (p.Ser262Cys) c.688A>T (p.Ser230Cys) n.38A>T n.351A>T c.583A>T (p.Ser195Cys) n.301A>T c.487A>T (p.Ser163Cys) | |
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) | |
5 | g.70946142G>A | CA360097092 | SMN1 | c.800G>A (p.Trp267Ter) c.704G>A (p.Trp235Ter) n.54G>A n.367G>A c.599G>A (p.Trp200Ter) n.317G>A c.503G>A (p.Trp168Ter) | |
5 | g.70946142G>C | CA360097095 | SMN1 | c.800G>C (p.Trp267Ser) c.704G>C (p.Trp235Ser) n.54G>C n.367G>C c.599G>C (p.Trp200Ser) n.317G>C c.503G>C (p.Trp168Ser) | |
5 | g.70946142G>T | CA360097088 | SMN1 | c.800G>T (p.Trp267Leu) c.704G>T (p.Trp235Leu) n.54G>T n.367G>T c.599G>T (p.Trp200Leu) n.317G>T c.503G>T (p.Trp168Leu) | |
5 | g.70946143G>A | CA360097099 | SMN1 | c.801G>A (p.Trp267Ter) c.705G>A (p.Trp235Ter) n.55G>A n.368G>A c.600G>A (p.Trp200Ter) n.318G>A c.504G>A (p.Trp168Ter) | ClinVar |
5 | g.70946143G>C | CA360097101 | SMN1 | c.801G>C (p.Trp267Cys) c.705G>C (p.Trp235Cys) n.55G>C n.368G>C c.600G>C (p.Trp200Cys) n.318G>C c.504G>C (p.Trp168Cys) | |
5 | g.70946143G>T | CA360097106 | SMN1 | c.801G>T (p.Trp267Cys) c.705G>T (p.Trp235Cys) n.55G>T n.368G>T c.600G>T (p.Trp200Cys) n.318G>T c.504G>T (p.Trp168Cys) | gnomAD v4 |
5 | g.70946144T>A | CA360097109 | SMN1 | c.802T>A (p.Tyr268Asn) c.706T>A (p.Tyr236Asn) n.56T>A n.369T>A c.601T>A (p.Tyr201Asn) n.319T>A c.505T>A (p.Tyr169Asn) | |
5 | g.70946144T>C | CA360097112 | SMN1 | c.802T>C (p.Tyr268His) c.706T>C (p.Tyr236His) n.56T>C n.369T>C c.601T>C (p.Tyr201His) n.319T>C c.505T>C (p.Tyr169His) | |
5 | g.70946144T>G | CA360097115 | SMN1 | c.802T>G (p.Tyr268Asp) c.706T>G (p.Tyr236Asp) n.56T>G n.369T>G c.601T>G (p.Tyr201Asp) n.319T>G c.505T>G (p.Tyr169Asp) | |
5 | g.70946145A= | CA1554172355 | SMN1 | c.803A= (p.Tyr268=) c.707A= (p.Tyr236=) n.57A= n.370A= c.602A= (p.Tyr201=) n.320A= c.506A= (p.Tyr169=) | |
5 | g.70946145A>C | CA360097118 | SMN1 | c.803A>C (p.Tyr268Ser) c.707A>C (p.Tyr236Ser) n.57A>C n.370A>C c.602A>C (p.Tyr201Ser) n.320A>C c.506A>C (p.Tyr169Ser) | |
5 | g.70946145A>G | CA360097121 | SMN1 | c.803A>G (p.Tyr268Cys) c.707A>G (p.Tyr236Cys) n.57A>G n.370A>G c.602A>G (p.Tyr201Cys) n.320A>G c.506A>G (p.Tyr169Cys) | ClinVar dbSNP |
5 | g.70946145A>T | CA360097124 | SMN1 | c.803A>T (p.Tyr268Phe) c.707A>T (p.Tyr236Phe) n.57A>T n.370A>T c.602A>T (p.Tyr201Phe) n.320A>T c.506A>T (p.Tyr169Phe) | |
5 | g.70946146C>A | CA360097129 | SMN1 | c.804C>A (p.Tyr268Ter) c.708C>A (p.Tyr236Ter) n.58C>A n.371C>A c.603C>A (p.Tyr201Ter) n.321C>A c.507C>A (p.Tyr169Ter) | |
5 | g.70946146C>G | CA360097132 | SMN1 | c.804C>G (p.Tyr268Ter) c.708C>G (p.Tyr236Ter) n.58C>G n.371C>G c.603C>G (p.Tyr201Ter) n.321C>G c.507C>G (p.Tyr169Ter) | |
5 | g.70946146C>T | CA444973064 | SMN1 | c.804C>T (p.Tyr268=) c.708C>T (p.Tyr236=) n.58C>T n.371C>T c.603C>T (p.Tyr201=) n.321C>T c.507C>T (p.Tyr169=) | |
5 | g.70946147A>C | CA360097143 | SMN1 | c.805A>C (p.Met269Leu) c.709A>C (p.Met237Leu) n.59A>C n.372A>C c.604A>C (p.Met202Leu) n.322A>C c.508A>C (p.Met170Leu) | |
5 | g.70946147A>G | CA360097140 | SMN1 | c.805A>G (p.Met269Val) c.709A>G (p.Met237Val) n.59A>G n.372A>G c.604A>G (p.Met202Val) n.322A>G c.508A>G (p.Met170Val) | |
5 | g.70946147A>T | CA360097137 | SMN1 | c.805A>T (p.Met269Leu) c.709A>T (p.Met237Leu) n.59A>T n.372A>T c.604A>T (p.Met202Leu) n.322A>T c.508A>T (p.Met170Leu) | |
5 | g.70946148T>A | CA360097148 | SMN1 | c.806T>A (p.Met269Lys) c.710T>A (p.Met237Lys) n.60T>A n.373T>A c.605T>A (p.Met202Lys) n.323T>A c.509T>A (p.Met170Lys) | |
5 | g.70946148T>C | CA360097150 | SMN1 | c.806T>C (p.Met269Thr) c.710T>C (p.Met237Thr) n.60T>C n.373T>C c.605T>C (p.Met202Thr) n.323T>C c.509T>C (p.Met170Thr) | |
5 | g.70946148T>G | CA360097152 | SMN1 | c.806T>G (p.Met269Arg) c.710T>G (p.Met237Arg) n.60T>G n.373T>G c.605T>G (p.Met202Arg) n.323T>G c.509T>G (p.Met170Arg) | |
5 | g.70946149G>A | CA360097155 | SMN1 | c.807G>A (p.Met269Ile) c.711G>A (p.Met237Ile) n.61G>A n.374G>A c.606G>A (p.Met202Ile) n.324G>A c.510G>A (p.Met170Ile) | |
5 | g.70946149G>C | CA360097158 | SMN1 | c.807G>C (p.Met269Ile) c.711G>C (p.Met237Ile) n.61G>C n.374G>C c.606G>C (p.Met202Ile) n.324G>C c.510G>C (p.Met170Ile) | |
5 | g.70946149G>T | CA360097161 | SMN1 | c.807G>T (p.Met269Ile) c.711G>T (p.Met237Ile) n.61G>T n.374G>T c.606G>T (p.Met202Ile) n.324G>T c.510G>T (p.Met170Ile) | |
5 | g.70946150A>C | CA360097167 | SMN1 | c.808A>C (p.Ser270Arg) c.712A>C (p.Ser238Arg) n.62A>C n.375A>C c.607A>C (p.Ser203Arg) n.325A>C c.511A>C (p.Ser171Arg) | |
5 | g.70946150A>G | CA360097170 | SMN1 | c.808A>G (p.Ser270Gly) c.712A>G (p.Ser238Gly) n.62A>G n.375A>G c.607A>G (p.Ser203Gly) n.325A>G c.511A>G (p.Ser171Gly) | |
5 | g.70946150A>T | CA360097173 | SMN1 | c.808A>T (p.Ser270Cys) c.712A>T (p.Ser238Cys) n.62A>T n.375A>T c.607A>T (p.Ser203Cys) n.325A>T c.511A>T (p.Ser171Cys) | |
5 | g.70946151G>A | CA360097178 | SMN1 | c.809G>A (p.Ser270Asn) c.713G>A (p.Ser238Asn) n.63G>A n.376G>A c.608G>A (p.Ser203Asn) n.326G>A c.512G>A (p.Ser171Asn) | |
5 | g.70946151G>C | CA360097182 | SMN1 | c.809G>C (p.Ser270Thr) c.713G>C (p.Ser238Thr) n.63G>C n.376G>C c.608G>C (p.Ser203Thr) n.326G>C c.512G>C (p.Ser171Thr) | |
5 | g.70946151G>T | CA360097185 | SMN1 | c.809G>T (p.Ser270Ile) c.713G>T (p.Ser238Ile) n.63G>T n.376G>T c.608G>T (p.Ser203Ile) n.326G>T c.512G>T (p.Ser171Ile) | |
5 | g.70946152T>A | CA360097189 | SMN1 | c.810T>A (p.Ser270Arg) c.714T>A (p.Ser238Arg) n.64T>A n.377T>A c.609T>A (p.Ser203Arg) n.327T>A c.513T>A (p.Ser171Arg) | |
5 | g.70946152T>C | CA444973126 | SMN1 | c.810T>C (p.Ser270=) c.714T>C (p.Ser238=) n.64T>C n.377T>C c.609T>C (p.Ser203=) n.327T>C c.513T>C (p.Ser171=) | |
5 | g.70946152T>G | CA360097190 | SMN1 | c.810T>G (p.Ser270Arg) c.714T>G (p.Ser238Arg) n.64T>G n.377T>G c.609T>G (p.Ser203Arg) n.327T>G c.513T>G (p.Ser171Arg) | |
5 | g.70946153_70946156dup | CA2695204561 | SMN1 | c.811_814dup (p.Tyr272TrpfsTer?) c.715_718dup (p.Tyr240TrpfsTer?) c.811_814dup (p.Tyr272TrpfsTer17) c.811_814dup (p.Tyr272TrpfsTer15) n.65_68dup n.378_381dup c.610_613dup (p.Tyr205TrpfsTer?) n.328_331dup c.514_517dup (p.Tyr173TrpfsTer?) c.715_718dup (p.Tyr240TrpfsTer17) | |
5 | g.70946153G>A | CA360097195 | SMN1 | c.811G>A (p.Gly271Ser) c.715G>A (p.Gly239Ser) n.65G>A n.378G>A c.610G>A (p.Gly204Ser) n.328G>A c.514G>A (p.Gly172Ser) | |
5 | g.70946153G>C | CA360097201 | SMN1 | c.811G>C (p.Gly271Arg) c.715G>C (p.Gly239Arg) n.65G>C n.378G>C c.610G>C (p.Gly204Arg) n.328G>C c.514G>C (p.Gly172Arg) | |
5 | g.70946153G>T | CA360097197 | SMN1 | c.811G>T (p.Gly271Cys) c.715G>T (p.Gly239Cys) n.65G>T n.378G>T c.610G>T (p.Gly204Cys) n.328G>T c.514G>T (p.Gly172Cys) | |
5 | g.70946154G>A | CA360097206 | SMN1 | c.812G>A (p.Gly271Asp) c.716G>A (p.Gly239Asp) n.66G>A n.379G>A c.611G>A (p.Gly204Asp) n.329G>A c.515G>A (p.Gly172Asp) | |
5 | g.70946154G>C | CA360097208 | SMN1 | c.812G>C (p.Gly271Ala) c.716G>C (p.Gly239Ala) n.66G>C n.379G>C c.611G>C (p.Gly204Ala) n.329G>C c.515G>C (p.Gly172Ala) | |
5 | g.70946154G>T | CA360097212 | SMN1 | c.812G>T (p.Gly271Val) c.716G>T (p.Gly239Val) n.66G>T n.379G>T c.611G>T (p.Gly204Val) n.329G>T c.515G>T (p.Gly172Val) | |
5 | g.70946155C>A | CA444973153 | SMN1 | c.813C>A (p.Gly271=) c.717C>A (p.Gly239=) n.67C>A n.380C>A c.612C>A (p.Gly204=) n.330C>A c.516C>A (p.Gly172=) | |
5 | g.70946155C>G | CA444973144 | SMN1 | c.813C>G (p.Gly271=) c.717C>G (p.Gly239=) n.67C>G n.380C>G c.612C>G (p.Gly204=) n.330C>G c.516C>G (p.Gly172=) | |
5 | g.70946155C>T | CA444973147 | SMN1 | c.813C>T (p.Gly271=) c.717C>T (p.Gly239=) n.67C>T n.380C>T c.612C>T (p.Gly204=) n.330C>T c.516C>T (p.Gly172=) | |
5 | g.70946156T>A | CA360097215 | SMN1 | c.814T>A (p.Tyr272Asn) c.718T>A (p.Tyr240Asn) n.68T>A n.381T>A c.613T>A (p.Tyr205Asn) n.331T>A c.517T>A (p.Tyr173Asn) | |
5 | g.70946156T>C | CA360097218 | SMN1 | c.814T>C (p.Tyr272His) c.718T>C (p.Tyr240His) n.68T>C n.381T>C c.613T>C (p.Tyr205His) n.331T>C c.517T>C (p.Tyr173His) | |
5 | g.70946156T>G | CA360097220 | SMN1 | c.814T>G (p.Tyr272Asp) c.718T>G (p.Tyr240Asp) n.68T>G n.381T>G c.613T>G (p.Tyr205Asp) n.331T>G c.517T>G (p.Tyr173Asp) | |
5 | g.70946157A= | CA1554172356 | SMN1 | c.815A= (p.Tyr272=) c.719A= (p.Tyr240=) n.69A= n.382A= c.614A= (p.Tyr205=) n.332A= c.518A= (p.Tyr173=) | |
5 | g.70946157A>C | CA360097225 | SMN1 | c.815A>C (p.Tyr272Ser) c.719A>C (p.Tyr240Ser) n.69A>C n.382A>C c.614A>C (p.Tyr205Ser) n.332A>C c.518A>C (p.Tyr173Ser) | |
5 | g.70946157A>G | CA254677 | SMN1 | c.815A>G (p.Tyr272Cys) c.719A>G (p.Tyr240Cys) n.69A>G n.382A>G c.614A>G (p.Tyr205Cys) n.332A>G c.518A>G (p.Tyr173Cys) | ClinVar dbSNP gnomAD v4 |
5 | g.70946157A>T | CA360097233 | SMN1 | c.815A>T (p.Tyr272Phe) c.719A>T (p.Tyr240Phe) n.69A>T n.382A>T c.614A>T (p.Tyr205Phe) n.332A>T c.518A>T (p.Tyr173Phe) | |
5 | g.70946158T>A | CA360097237 | SMN1 | c.816T>A (p.Tyr272Ter) c.720T>A (p.Tyr240Ter) n.70T>A n.383T>A c.615T>A (p.Tyr205Ter) n.333T>A c.519T>A (p.Tyr173Ter) | |
5 | g.70946158T>C | CA444973189 | SMN1 | c.816T>C (p.Tyr272=) c.720T>C (p.Tyr240=) n.70T>C n.383T>C c.615T>C (p.Tyr205=) n.333T>C c.519T>C (p.Tyr173=) | |
5 | g.70946158T>G | CA360097240 | SMN1 | c.816T>G (p.Tyr272Ter) c.720T>G (p.Tyr240Ter) n.70T>G n.383T>G c.615T>G (p.Tyr205Ter) n.333T>G c.519T>G (p.Tyr173Ter) | |
5 | g.70946159C>A | CA360097250 | SMN1 | c.817C>A (p.His273Asn) c.721C>A (p.His241Asn) n.71C>A n.384C>A c.616C>A (p.His206Asn) n.334C>A c.520C>A (p.His174Asn) | |
5 | g.70946159C>G | CA360097245 | SMN1 | c.817C>G (p.His273Asp) c.721C>G (p.His241Asp) n.71C>G n.384C>G c.616C>G (p.His206Asp) n.334C>G c.520C>G (p.His174Asp) | |
5 | g.70946159C>T | CA360097247 | SMN1 | c.817C>T (p.His273Tyr) c.721C>T (p.His241Tyr) n.71C>T n.384C>T c.616C>T (p.His206Tyr) n.334C>T c.520C>T (p.His174Tyr) | |
5 | g.70946160A= | CA1554172357 | SMN1 | c.818A= (p.His273=) c.722A= (p.His241=) n.72A= n.385A= c.617A= (p.His206=) n.335A= c.521A= (p.His174=) | |
5 | g.70946160A>C | CA360097255 | SMN1 | c.818A>C (p.His273Pro) c.722A>C (p.His241Pro) n.72A>C n.385A>C c.617A>C (p.His206Pro) n.335A>C c.521A>C (p.His174Pro) | |
5 | g.70946160A>G | CA360097258 | SMN1 | c.818A>G (p.His273Arg) c.722A>G (p.His241Arg) n.72A>G n.385A>G c.617A>G (p.His206Arg) n.335A>G c.521A>G (p.His174Arg) | |
5 | g.70946160A>T | CA360097259 | SMN1 | c.818A>T (p.His273Leu) c.722A>T (p.His241Leu) n.72A>T n.385A>T c.617A>T (p.His206Leu) n.335A>T c.521A>T (p.His174Leu) | ClinVar dbSNP |
5 | g.70946161T>A | CA360097264 | SMN1 | c.819T>A (p.His273Gln) c.723T>A (p.His241Gln) n.73T>A n.386T>A c.618T>A (p.His206Gln) n.336T>A c.522T>A (p.His174Gln) | |
5 | g.70946161T>C | CA444973216 | SMN1 | c.819T>C (p.His273=) c.723T>C (p.His241=) n.73T>C n.386T>C c.618T>C (p.His206=) n.336T>C c.522T>C (p.His174=) | |
5 | g.70946161T>G | CA360097266 | SMN1 | c.819T>G (p.His273Gln) c.723T>G (p.His241Gln) n.73T>G n.386T>G c.618T>G (p.His206Gln) n.336T>G c.522T>G (p.His174Gln) | |
5 | g.70946161dup | CA2695204562 | SMN1 | c.819dup (p.Thr274TyrfsTer?) c.723dup (p.Thr242TyrfsTer?) c.819dup (p.Thr274TyrfsTer14) c.819dup (p.Thr274TyrfsTer12) n.73dup n.386dup c.618dup (p.Thr207TyrfsTer?) n.336dup c.522dup (p.Thr175TyrfsTer?) c.723dup (p.Thr242TyrfsTer14) | |
5 | g.70946162A>C | CA360097271 | SMN1 | c.820A>C (p.Thr274Pro) c.724A>C (p.Thr242Pro) n.74A>C n.387A>C c.619A>C (p.Thr207Pro) n.337A>C c.523A>C (p.Thr175Pro) | |
5 | g.70946162A>G | CA360097273 | SMN1 | c.820A>G (p.Thr274Ala) c.724A>G (p.Thr242Ala) n.74A>G n.387A>G c.619A>G (p.Thr207Ala) n.337A>G c.523A>G (p.Thr175Ala) | |
5 | g.70946162A>T | CA360097275 | SMN1 | c.820A>T (p.Thr274Ser) c.724A>T (p.Thr242Ser) n.74A>T n.387A>T c.619A>T (p.Thr207Ser) n.337A>T c.523A>T (p.Thr175Ser) | |
5 | g.70946163C>A | CA360097279 | SMN1 | c.821C>A (p.Thr274Asn) c.725C>A (p.Thr242Asn) n.75C>A n.388C>A c.620C>A (p.Thr207Asn) n.338C>A c.524C>A (p.Thr175Asn) | |
5 | g.70946163C= | CA1554172358 | SMN1 | c.821C= (p.Thr274=) c.725C= (p.Thr242=) n.75C= n.388C= c.620C= (p.Thr207=) n.338C= c.524C= (p.Thr175=) | |
5 | g.70946163C>G | CA360097282 | SMN1 | c.821C>G (p.Thr274Ser) c.725C>G (p.Thr242Ser) n.75C>G n.388C>G c.620C>G (p.Thr207Ser) n.338C>G c.524C>G (p.Thr175Ser) | |
5 | g.70946163C>T | CA254673 | SMN1 | c.821C>T (p.Thr274Ile) c.725C>T (p.Thr242Ile) n.75C>T n.388C>T c.620C>T (p.Thr207Ile) n.338C>T c.524C>T (p.Thr175Ile) | ClinVar dbSNP |
5 | g.70946164T>A | CA444973245 | SMN1 | c.822T>A (p.Thr274=) c.726T>A (p.Thr242=) n.76T>A n.389T>A c.621T>A (p.Thr207=) n.339T>A c.525T>A (p.Thr175=) | |
5 | g.70946164T>C | CA444973250 | SMN1 | c.822T>C (p.Thr274=) c.726T>C (p.Thr242=) n.76T>C n.389T>C c.621T>C (p.Thr207=) n.339T>C c.525T>C (p.Thr175=) | |
5 | g.70946164T>G | CA444973266 | SMN1 | c.822T>G (p.Thr274=) c.726T>G (p.Thr242=) n.76T>G n.389T>G c.621T>G (p.Thr207=) n.339T>G c.525T>G (p.Thr175=) | |
5 | g.70946165G>A | CA120725213 | SMN1 | c.823G>A (p.Gly275Ser) c.727G>A (p.Gly243Ser) n.77G>A n.390G>A c.622G>A (p.Gly208Ser) n.340G>A c.526G>A (p.Gly176Ser) | ClinVar dbSNP |
5 | g.70946165G>C | CA360097293 | SMN1 | c.823G>C (p.Gly275Arg) c.727G>C (p.Gly243Arg) n.77G>C n.390G>C c.622G>C (p.Gly208Arg) n.340G>C c.526G>C (p.Gly176Arg) | |
5 | g.70946165G= | CA1554172359 | SMN1 | c.823G= (p.Gly275=) c.727G= (p.Gly243=) n.77G= n.390G= c.622G= (p.Gly208=) n.340G= c.526G= (p.Gly176=) | |
5 | g.70946165G>T | CA360097288 | SMN1 | c.823G>T (p.Gly275Cys) c.727G>T (p.Gly243Cys) n.77G>T n.390G>T c.622G>T (p.Gly208Cys) n.340G>T c.526G>T (p.Gly176Cys) | |
5 | g.70946166G>A | CA360097300 | SMN1 | c.824G>A (p.Gly275Asp) c.728G>A (p.Gly243Asp) n.78G>A n.391G>A c.623G>A (p.Gly208Asp) n.341G>A c.527G>A (p.Gly176Asp) | ClinVar dbSNP |
5 | g.70946166G>C | CA360097303 | SMN1 | c.824G>C (p.Gly275Ala) c.728G>C (p.Gly243Ala) n.78G>C n.391G>C c.623G>C (p.Gly208Ala) n.341G>C c.527G>C (p.Gly176Ala) | |
5 | g.70946166G= | CA1554172360 | SMN1 | c.824G= (p.Gly275=) c.728G= (p.Gly243=) n.78G= n.391G= c.623G= (p.Gly208=) n.341G= c.527G= (p.Gly176=) | |
5 | g.70946166G>T | CA360097305 | SMN1 | c.824G>T (p.Gly275Val) c.728G>T (p.Gly243Val) n.78G>T n.391G>T c.623G>T (p.Gly208Val) n.341G>T c.527G>T (p.Gly176Val) | |
5 | g.70946167C>A | CA444973291 | SMN1 | c.825C>A (p.Gly275=) c.729C>A (p.Gly243=) n.79C>A n.392C>A c.624C>A (p.Gly208=) n.342C>A c.528C>A (p.Gly176=) | |
5 | g.70946167C>G | CA444973294 | SMN1 | c.825C>G (p.Gly275=) c.729C>G (p.Gly243=) n.79C>G n.392C>G c.624C>G (p.Gly208=) n.342C>G c.528C>G (p.Gly176=) | |
5 | g.70946167C>T | CA444973307 | SMN1 | c.825C>T (p.Gly275=) c.729C>T (p.Gly243=) n.79C>T n.392C>T c.624C>T (p.Gly208=) n.342C>T c.528C>T (p.Gly176=) | |
5 | g.70946168T>A | CA360097309 | SMN1 | c.826T>A (p.Tyr276Asn) c.730T>A (p.Tyr244Asn) n.80T>A n.393T>A c.625T>A (p.Tyr209Asn) n.343T>A c.529T>A (p.Tyr177Asn) | |
5 | g.70946168T>C | CA360097312 | SMN1 | c.826T>C (p.Tyr276His) c.730T>C (p.Tyr244His) n.80T>C n.393T>C c.625T>C (p.Tyr209His) n.343T>C c.529T>C (p.Tyr177His) | |
5 | g.70946168T>G | CA360097315 | SMN1 | c.826T>G (p.Tyr276Asp) c.730T>G (p.Tyr244Asp) n.80T>G n.393T>G c.625T>G (p.Tyr209Asp) n.343T>G c.529T>G (p.Tyr177Asp) | |
5 | g.70946169A>C | CA360097326 | SMN1 | c.827A>C (p.Tyr276Ser) c.731A>C (p.Tyr244Ser) n.81A>C n.394A>C c.626A>C (p.Tyr209Ser) n.344A>C c.530A>C (p.Tyr177Ser) | |
5 | g.70946169A>G | CA360097322 | SMN1 | c.827A>G (p.Tyr276Cys) c.731A>G (p.Tyr244Cys) n.81A>G n.394A>G c.626A>G (p.Tyr209Cys) n.344A>G c.530A>G (p.Tyr177Cys) | |
5 | g.70946169A>T | CA360097325 | SMN1 | c.827A>T (p.Tyr276Phe) c.731A>T (p.Tyr244Phe) n.81A>T n.394A>T c.626A>T (p.Tyr209Phe) n.344A>T c.530A>T (p.Tyr177Phe) | |
5 | g.70946170T>A | CA360097331 | SMN1 | c.828T>A (p.Tyr276Ter) c.732T>A (p.Tyr244Ter) n.82T>A n.395T>A c.627T>A (p.Tyr209Ter) n.345T>A c.531T>A (p.Tyr177Ter) | |
5 | g.70946170T>C | CA444973314 | SMN1 | c.828T>C (p.Tyr276=) c.732T>C (p.Tyr244=) n.82T>C n.395T>C c.627T>C (p.Tyr209=) n.345T>C c.531T>C (p.Tyr177=) | |
5 | g.70946170T>G | CA360097332 | SMN1 | c.828T>G (p.Tyr276Ter) c.732T>G (p.Tyr244Ter) n.82T>G n.395T>G c.627T>G (p.Tyr209Ter) n.345T>G c.531T>G (p.Tyr177Ter) | |
5 | g.70946171T>A | CA360097341 | SMN1 | c.829T>A (p.Tyr277Asn) c.733T>A (p.Tyr245Asn) n.83T>A n.396T>A c.628T>A (p.Tyr210Asn) n.346T>A c.532T>A (p.Tyr178Asn) | |
5 | g.70946171T>C | CA360097344 | SMN1 | c.829T>C (p.Tyr277His) c.733T>C (p.Tyr245His) n.83T>C n.396T>C c.628T>C (p.Tyr210His) n.346T>C c.532T>C (p.Tyr178His) | |
5 | g.70946171T>G | CA360097347 | SMN1 | c.829T>G (p.Tyr277Asp) c.733T>G (p.Tyr245Asp) n.83T>G n.396T>G c.628T>G (p.Tyr210Asp) n.346T>G c.532T>G (p.Tyr178Asp) | |
5 | g.70946172A>C | CA360097352 | SMN1 | c.830A>C (p.Tyr277Ser) c.734A>C (p.Tyr245Ser) n.84A>C n.397A>C c.629A>C (p.Tyr210Ser) n.347A>C c.533A>C (p.Tyr178Ser) | |
5 | g.70946172A>G | CA360097358 | SMN1 | c.830A>G (p.Tyr277Cys) c.734A>G (p.Tyr245Cys) n.84A>G n.397A>G c.629A>G (p.Tyr210Cys) n.347A>G c.533A>G (p.Tyr178Cys) | |
5 | g.70946172A>T | CA360097355 | SMN1 | c.830A>T (p.Tyr277Phe) c.734A>T (p.Tyr245Phe) n.84A>T n.397A>T c.629A>T (p.Tyr210Phe) n.347A>T c.533A>T (p.Tyr178Phe) | |
5 | g.70946173T>A | CA360097362 | SMN1 | c.831T>A (p.Tyr277Ter) c.735T>A (p.Tyr245Ter) n.85T>A n.398T>A c.630T>A (p.Tyr210Ter) n.348T>A c.534T>A (p.Tyr178Ter) | |
5 | g.70946173T>C | CA444973354 | SMN1 | c.831T>C (p.Tyr277=) c.735T>C (p.Tyr245=) n.85T>C n.398T>C c.630T>C (p.Tyr210=) n.348T>C c.534T>C (p.Tyr178=) | |
5 | g.70946173T>G | CA360097365 | SMN1 | c.831T>G (p.Tyr277Ter) c.735T>G (p.Tyr245Ter) n.85T>G n.398T>G c.630T>G (p.Tyr210Ter) n.348T>G c.534T>G (p.Tyr178Ter) | |
5 | g.70946174A>C | CA360097368 | SMN1 | c.832A>C (p.Met278Leu) c.736A>C (p.Met246Leu) n.86A>C n.399A>C c.631A>C (p.Met211Leu) n.349A>C c.535A>C (p.Met179Leu) | |
5 | g.70946174A>G | CA360097371 | SMN1 | c.832A>G (p.Met278Val) c.736A>G (p.Met246Val) n.86A>G n.399A>G c.631A>G (p.Met211Val) n.349A>G c.535A>G (p.Met179Val) | |
5 | g.70946174A>T | CA360097374 | SMN1 | c.832A>T (p.Met278Leu) c.736A>T (p.Met246Leu) n.86A>T n.399A>T c.631A>T (p.Met211Leu) n.349A>T c.535A>T (p.Met179Leu) | |
5 | g.70946175T>A | CA360097377 | SMN1 | c.833T>A (p.Met278Lys) c.737T>A (p.Met246Lys) n.87T>A n.400T>A c.632T>A (p.Met211Lys) n.350T>A c.536T>A (p.Met179Lys) | |
5 | g.70946175T>C | CA360097378 | SMN1 | c.833T>C (p.Met278Thr) c.737T>C (p.Met246Thr) n.87T>C n.400T>C c.632T>C (p.Met211Thr) n.350T>C c.536T>C (p.Met179Thr) | |
5 | g.70946175T>G | CA360097379 | SMN1 | c.833T>G (p.Met278Arg) c.737T>G (p.Met246Arg) n.87T>G n.400T>G c.632T>G (p.Met211Arg) n.350T>G c.536T>G (p.Met179Arg) | |
5 | g.70946176G>A | CA360097381 | SMN1 | c.834G>A (p.Met278Ile) c.738G>A (p.Met246Ile) n.88G>A n.401G>A c.633G>A (p.Met211Ile) n.351G>A c.537G>A (p.Met179Ile) | |
5 | g.70946176G>C | CA360097384 | SMN1 | c.834G>C (p.Met278Ile) c.738G>C (p.Met246Ile) n.88G>C n.401G>C c.633G>C (p.Met211Ile) n.351G>C c.537G>C (p.Met179Ile) | |
5 | g.70946176G>T | CA360097387 | SMN1 | c.834G>T (p.Met278Ile) c.738G>T (p.Met246Ile) n.88G>T n.401G>T c.633G>T (p.Met211Ile) n.351G>T c.537G>T (p.Met179Ile) | |
5 | g.70946177G>A | CA360097396 | SMN1 | c.834+1G>A (n.834+1G>A) c.738+1G>A (n.738+1G>A) n.88+1G>A n.402G>A c.633+1G>A (n.633+1G>A) n.352G>A c.537+1G>A (n.537+1G>A) | |
5 | g.70946177G>C | CA360097395 | SMN1 | c.834+1G>C (n.834+1G>C) c.738+1G>C (n.738+1G>C) n.88+1G>C n.402G>C c.633+1G>C (n.633+1G>C) n.352G>C c.537+1G>C (n.537+1G>C) | |
5 | g.70946177G>T | CA360097392 | SMN1 | c.834+1G>T (n.834+1G>T) c.738+1G>T (n.738+1G>T) n.88+1G>T n.402G>T c.633+1G>T (n.633+1G>T) n.352G>T c.537+1G>T (n.537+1G>T) | |
5 | g.70946178T>A | CA360097397 | SMN1 | c.834+2T>A (n.834+2T>A) c.738+2T>A (n.738+2T>A) n.88+2T>A n.403T>A c.633+2T>A (n.633+2T>A) n.353T>A c.537+2T>A (n.537+2T>A) | |
5 | g.70946178T>C | CA360097401 | SMN1 | c.834+2T>C (n.834+2T>C) c.738+2T>C (n.738+2T>C) n.88+2T>C n.403T>C c.633+2T>C (n.633+2T>C) n.353T>C c.537+2T>C (n.537+2T>C) | |
5 | g.70946178T>G | CA360097399 | SMN1 | c.834+2T>G (n.834+2T>G) c.738+2T>G (n.738+2T>G) n.88+2T>G n.403T>G c.633+2T>G (n.633+2T>G) n.353T>G c.537+2T>G (n.537+2T>G) | |
5 | g.70946181del | CA2831038914 | SMN1 | c.834+5del (n.834+5del) c.738+5del (n.738+5del) n.88+5del n.406del c.633+5del (n.633+5del) n.356del c.537+5del (n.537+5del) | |
5 | g.70946182T>G | CA2573052525 | SMN1 | c.834+6T>G (n.834+6T>G) c.738+6T>G (n.738+6T>G) n.88+6T>G n.407T>G c.633+6T>G (n.633+6T>G) n.357T>G c.537+6T>G (n.537+6T>G) | ClinVar dbSNP |
5 | g.70946186C>A | CA2845599719 | SMN1 | c.834+10C>A (n.834+10C>A) c.738+10C>A (n.738+10C>A) n.88+10C>A n.411C>A c.633+10C>A (n.633+10C>A) n.361C>A c.537+10C>A (n.537+10C>A) | |
5 | g.70946187A>G | CA2674135113 | SMN1 | c.834+11A>G (n.834+11A>G) c.738+11A>G (n.738+11A>G) n.88+11A>G n.412A>G c.633+11A>G (n.633+11A>G) n.362A>G c.537+11A>G (n.537+11A>G) | gnomAD v4 |
5 | g.70946200T>G | CA2845599722 | SMN1 | c.834+24T>G (n.834+24T>G) c.738+24T>G (n.738+24T>G) n.88+24T>G n.425T>G c.633+24T>G (n.633+24T>G) n.375T>G c.537+24T>G (n.537+24T>G) | |
5 | g.70946206C>A | CA120725214 | SMN1 | c.834+30C>A (n.834+30C>A) c.738+30C>A (n.738+30C>A) n.88+30C>A n.431C>A c.633+30C>A (n.633+30C>A) n.381C>A c.537+30C>A (n.537+30C>A) | dbSNP |
5 | g.70946206C= | CA1554172361 | SMN1 | c.834+30C= (n.834+30C=) c.738+30C= (n.738+30C=) n.88+30C= n.431C= c.633+30C= (n.633+30C=) n.381C= c.537+30C= (n.537+30C=) | |
5 | g.70946206C>G | CA2766929487 | SMN1 | c.834+30C>G (n.834+30C>G) c.738+30C>G (n.738+30C>G) n.88+30C>G n.431C>G c.633+30C>G (n.633+30C>G) n.381C>G c.537+30C>G (n.537+30C>G) | |
5 | g.70946207A= | CA1554172362 | SMN1 | c.834+31A= (n.834+31A=) c.738+31A= (n.738+31A=) n.88+31A= n.432A= c.633+31A= (n.633+31A=) n.382A= c.537+31A= (n.537+31A=) | |
5 | g.70946207A>C | CA120725215 | SMN1 | c.834+31A>C (n.834+31A>C) c.738+31A>C (n.738+31A>C) n.88+31A>C n.432A>C c.633+31A>C (n.633+31A>C) n.382A>C c.537+31A>C (n.537+31A>C) | dbSNP |
5 | g.70946209T>A | CA560282265 | SMN1 | c.834+33T>A (n.834+33T>A) c.738+33T>A (n.738+33T>A) n.88+33T>A n.434T>A c.633+33T>A (n.633+33T>A) n.384T>A c.537+33T>A (n.537+33T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.70946209T= | CA1554172363 | SMN1 | c.834+33T= (n.834+33T=) c.738+33T= (n.738+33T=) n.88+33T= n.434T= c.633+33T= (n.633+33T=) n.384T= c.537+33T= (n.537+33T=) | |
5 | g.70946211T>A | CA2766929488 | SMN1 | c.834+35T>A (n.834+35T>A) c.738+35T>A (n.738+35T>A) n.88+35T>A n.436T>A c.633+35T>A (n.633+35T>A) n.386T>A c.537+35T>A (n.537+35T>A) | |
5 | g.70946213T>G | CA2845599724 | SMN1 | c.834+37T>G (n.834+37T>G) c.738+37T>G (n.738+37T>G) n.88+37T>G n.438T>G c.633+37T>G (n.633+37T>G) n.388T>G c.537+37T>G (n.537+37T>G) | |
5 | g.70946216G>T | CA2845599725 | SMN1 | c.834+40G>T (n.834+40G>T) c.738+40G>T (n.738+40G>T) n.88+40G>T n.441G>T c.633+40G>T (n.633+40G>T) n.391G>T c.537+40G>T (n.537+40G>T) | |
5 | g.70946222A>T | CA2766929489 | SMN1 | c.834+46A>T (n.834+46A>T) c.738+46A>T (n.738+46A>T) n.88+46A>T n.447A>T c.633+46A>T (n.633+46A>T) n.397A>T c.537+46A>T (n.537+46A>T) |