Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.70946064_70946175delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATATCA1554172347SMN1c.724-2_833delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT
c.628-2_737delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT
n.291-2_400delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT
c.523-2_632delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT
n.241-2_350delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT
c.427-2_536delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT
5g.70946066_70946176delCA645372410SMN1c.724_834del
c.628_738del
n.291_401del
c.523_633del
n.241_351del
c.427_537del
 ClinVar dbSNP
5g.70946066_70951991delCA1139658875SMN1c.724_885del
c.628_789del
c.724_835-448del
c.724_*59-448del
c.523_684del
c.427_588del
c.628_739-448del
 ClinVar
5g.70946133T>ACA360097007SMN1c.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)
5g.70946133T>CCA360097009SMN1c.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)
5g.70946133T>GCA360097010SMN1c.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)
5g.70946134A>CCA360097012SMN1c.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
5g.70946134A>GCA444972926SMN1c.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=)
5g.70946134A>TCA360097014SMN1c.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)
5g.70946135A>CCA360097024SMN1c.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)
5g.70946135A>GCA360097021SMN1c.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)
5g.70946135A>TCA360097018SMN1c.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)
5g.70946136T>ACA360097029SMN1c.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)
5g.70946136T>CCA360097037SMN1c.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)
5g.70946136T>GCA360097041SMN1c.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)
5g.70946137T>ACA444972963SMN1c.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=)
5g.70946137T>CCA444972972SMN1c.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=)
5g.70946137T>GCA360097046SMN1c.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)
5g.70946138T>ACA360097049SMN1c.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)
5g.70946138T>CCA360097052SMN1c.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
5g.70946138T>GCA360097055SMN1c.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)
5g.70946138T=CA1554172354SMN1c.796T= (p.Ser266=)
c.700T= (p.Ser234=)
n.50T=
n.363T=
c.595T= (p.Ser199=)
n.313T=
c.499T= (p.Ser167=)
5g.70946139C>ACA360097059SMN1c.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)
5g.70946139C>GCA360097069SMN1c.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)
5g.70946139C>TCA360097072SMN1c.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)
5g.70946140A>CCA444972992SMN1c.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=)
5g.70946140A>GCA444973003SMN1c.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
5g.70946140A>TCA444972997SMN1c.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=)
5g.70946141T>ACA360097077SMN1c.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)
5g.70946141T>CCA360097082SMN1c.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)
5g.70946141T>GCA360097085SMN1c.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)
5g.70946142G>ACA360097092SMN1c.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)
5g.70946142G>CCA360097095SMN1c.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)
5g.70946142G>TCA360097088SMN1c.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)
5g.70946143G>ACA360097099SMN1c.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
5g.70946143G>CCA360097101SMN1c.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)
5g.70946143G>TCA360097106SMN1c.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
5g.70946144T>ACA360097109SMN1c.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)
5g.70946144T>CCA360097112SMN1c.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)
5g.70946144T>GCA360097115SMN1c.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)
5g.70946145A=CA1554172355SMN1c.803A= (p.Tyr268=)
c.707A= (p.Tyr236=)
n.57A=
n.370A=
c.602A= (p.Tyr201=)
n.320A=
c.506A= (p.Tyr169=)
5g.70946145A>CCA360097118SMN1c.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)
5g.70946145A>GCA360097121SMN1c.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
5g.70946145A>TCA360097124SMN1c.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)
5g.70946146C>ACA360097129SMN1c.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)
5g.70946146C>GCA360097132SMN1c.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)
5g.70946146C>TCA444973064SMN1c.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=)
5g.70946147A>CCA360097143SMN1c.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)
5g.70946147A>GCA360097140SMN1c.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)
5g.70946147A>TCA360097137SMN1c.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)
5g.70946148T>ACA360097148SMN1c.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)
5g.70946148T>CCA360097150SMN1c.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)
5g.70946148T>GCA360097152SMN1c.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)
5g.70946149G>ACA360097155SMN1c.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)
5g.70946149G>CCA360097158SMN1c.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)
5g.70946149G>TCA360097161SMN1c.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)
5g.70946150A>CCA360097167SMN1c.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)
5g.70946150A>GCA360097170SMN1c.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)
5g.70946150A>TCA360097173SMN1c.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)
5g.70946151G>ACA360097178SMN1c.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)
5g.70946151G>CCA360097182SMN1c.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)
5g.70946151G>TCA360097185SMN1c.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)
5g.70946152T>ACA360097189SMN1c.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)
5g.70946152T>CCA444973126SMN1c.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=)
5g.70946152T>GCA360097190SMN1c.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)
5g.70946153_70946156dupCA2695204561SMN1c.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)
5g.70946153G>ACA360097195SMN1c.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)
5g.70946153G>CCA360097201SMN1c.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)
5g.70946153G>TCA360097197SMN1c.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)
5g.70946154G>ACA360097206SMN1c.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)
5g.70946154G>CCA360097208SMN1c.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)
5g.70946154G>TCA360097212SMN1c.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)
5g.70946155C>ACA444973153SMN1c.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=)
5g.70946155C>GCA444973144SMN1c.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=)
5g.70946155C>TCA444973147SMN1c.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=)
5g.70946156T>ACA360097215SMN1c.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)
5g.70946156T>CCA360097218SMN1c.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)
5g.70946156T>GCA360097220SMN1c.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)
5g.70946157A=CA1554172356SMN1c.815A= (p.Tyr272=)
c.719A= (p.Tyr240=)
n.69A=
n.382A=
c.614A= (p.Tyr205=)
n.332A=
c.518A= (p.Tyr173=)
5g.70946157A>CCA360097225SMN1c.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)
5g.70946157A>GCA254677SMN1c.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
5g.70946157A>TCA360097233SMN1c.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)
5g.70946158T>ACA360097237SMN1c.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)
5g.70946158T>CCA444973189SMN1c.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=)
5g.70946158T>GCA360097240SMN1c.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)
5g.70946159C>ACA360097250SMN1c.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)
5g.70946159C>GCA360097245SMN1c.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)
5g.70946159C>TCA360097247SMN1c.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)
5g.70946160A=CA1554172357SMN1c.818A= (p.His273=)
c.722A= (p.His241=)
n.72A=
n.385A=
c.617A= (p.His206=)
n.335A=
c.521A= (p.His174=)
5g.70946160A>CCA360097255SMN1c.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)
5g.70946160A>GCA360097258SMN1c.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)
5g.70946160A>TCA360097259SMN1c.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
5g.70946161T>ACA360097264SMN1c.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)
5g.70946161T>CCA444973216SMN1c.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=)
5g.70946161T>GCA360097266SMN1c.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)
5g.70946161dupCA2695204562SMN1c.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)
5g.70946162A>CCA360097271SMN1c.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)
5g.70946162A>GCA360097273SMN1c.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)
5g.70946162A>TCA360097275SMN1c.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)
5g.70946163C>ACA360097279SMN1c.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)
5g.70946163C=CA1554172358SMN1c.821C= (p.Thr274=)
c.725C= (p.Thr242=)
n.75C=
n.388C=
c.620C= (p.Thr207=)
n.338C=
c.524C= (p.Thr175=)
5g.70946163C>GCA360097282SMN1c.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)
5g.70946163C>TCA254673SMN1c.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
5g.70946164T>ACA444973245SMN1c.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=)
5g.70946164T>CCA444973250SMN1c.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=)
5g.70946164T>GCA444973266SMN1c.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=)
5g.70946165G>ACA120725213SMN1c.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
5g.70946165G>CCA360097293SMN1c.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)
5g.70946165G=CA1554172359SMN1c.823G= (p.Gly275=)
c.727G= (p.Gly243=)
n.77G=
n.390G=
c.622G= (p.Gly208=)
n.340G=
c.526G= (p.Gly176=)
5g.70946165G>TCA360097288SMN1c.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)
5g.70946166G>ACA360097300SMN1c.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
5g.70946166G>CCA360097303SMN1c.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)
5g.70946166G=CA1554172360SMN1c.824G= (p.Gly275=)
c.728G= (p.Gly243=)
n.78G=
n.391G=
c.623G= (p.Gly208=)
n.341G=
c.527G= (p.Gly176=)
5g.70946166G>TCA360097305SMN1c.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)
5g.70946167C>ACA444973291SMN1c.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=)
5g.70946167C>GCA444973294SMN1c.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=)
5g.70946167C>TCA444973307SMN1c.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=)
5g.70946168T>ACA360097309SMN1c.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)
5g.70946168T>CCA360097312SMN1c.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)
5g.70946168T>GCA360097315SMN1c.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)
5g.70946169A>CCA360097326SMN1c.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)
5g.70946169A>GCA360097322SMN1c.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)
5g.70946169A>TCA360097325SMN1c.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)
5g.70946170T>ACA360097331SMN1c.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)
5g.70946170T>CCA444973314SMN1c.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=)
5g.70946170T>GCA360097332SMN1c.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)
5g.70946171T>ACA360097341SMN1c.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)
5g.70946171T>CCA360097344SMN1c.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)
5g.70946171T>GCA360097347SMN1c.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)
5g.70946172A>CCA360097352SMN1c.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)
5g.70946172A>GCA360097358SMN1c.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)
5g.70946172A>TCA360097355SMN1c.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)
5g.70946173T>ACA360097362SMN1c.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)
5g.70946173T>CCA444973354SMN1c.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=)
5g.70946173T>GCA360097365SMN1c.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)
5g.70946174A>CCA360097368SMN1c.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)
5g.70946174A>GCA360097371SMN1c.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)
5g.70946174A>TCA360097374SMN1c.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)
5g.70946175T>ACA360097377SMN1c.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)
5g.70946175T>CCA360097378SMN1c.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)
5g.70946175T>GCA360097379SMN1c.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)
5g.70946176G>ACA360097381SMN1c.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)
5g.70946176G>CCA360097384SMN1c.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)
5g.70946176G>TCA360097387SMN1c.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)
5g.70946177G>ACA360097396SMN1c.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)
5g.70946177G>CCA360097395SMN1c.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)
5g.70946177G>TCA360097392SMN1c.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)
5g.70946178T>ACA360097397SMN1c.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)
5g.70946178T>CCA360097401SMN1c.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)
5g.70946178T>GCA360097399SMN1c.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)
5g.70946182T>GCA2573052525SMN1c.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
5g.70946187A>GCA2674135113SMN1c.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
5g.70946206C>ACA120725214SMN1c.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
5g.70946206C=CA1554172361SMN1c.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=)
5g.70946206C>GCA2766929487SMN1c.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)
5g.70946207A=CA1554172362SMN1c.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=)
5g.70946207A>CCA120725215SMN1c.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
5g.70946209T>ACA560282265SMN1c.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
5g.70946209T=CA1554172363SMN1c.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=)
5g.70946211T>ACA2766929488SMN1c.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)
5g.70946222A>TCA2766929489SMN1c.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)
5g.70946224G>ACA1554172365SMN1c.834+48G>A (n.834+48G>A)
c.738+48G>A (n.738+48G>A)
n.88+48G>A
n.449G>A
c.633+48G>A (n.633+48G>A)
n.399G>A
c.537+48G>A (n.537+48G>A)
 dbSNP
5g.70946224G=CA1554172364SMN1c.834+48G= (n.834+48G=)
c.738+48G= (n.738+48G=)
n.88+48G=
n.449G=
c.633+48G= (n.633+48G=)
n.399G=
c.537+48G= (n.537+48G=)
5g.70946231T>CCA1077297646SMN1c.834+55T>C (n.834+55T>C)
c.738+55T>C (n.738+55T>C)
n.88+55T>C
n.456T>C
c.633+55T>C (n.633+55T>C)
n.406T>C
c.537+55T>C (n.537+55T>C)
 gnomAD v3 gnomAD v4

Number of alleles fetched