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.70946132T>ACA360096999SMN1c.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)
5g.70946132T>CCA444972912SMN1c.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=)
5g.70946132T>GCA360097002SMN1c.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)
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=)

Number of alleles fetched