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.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)

Number of alleles fetched