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.70946107T>ACA360096812SMN1c.765T>A (p.Asp255Glu)
c.669T>A (p.Asp223Glu)
n.19T>A
n.332T>A
c.564T>A (p.Asp188Glu)
n.282T>A
c.468T>A (p.Asp156Glu)
5g.70946107T>CCA444972569SMN1c.765T>C (p.Asp255=)
c.669T>C (p.Asp223=)
n.19T>C
n.332T>C
c.564T>C (p.Asp188=)
n.282T>C
c.468T>C (p.Asp156=)
 dbSNP
5g.70946107T>GCA360096815SMN1c.765T>G (p.Asp255Glu)
c.669T>G (p.Asp223Glu)
n.19T>G
n.332T>G
c.564T>G (p.Asp188Glu)
n.282T>G
c.468T>G (p.Asp156Glu)
5g.70946107T=CA1554172349SMN1c.765T= (p.Asp255=)
c.669T= (p.Asp223=)
n.19T=
n.332T=
c.564T= (p.Asp188=)
n.282T=
c.468T= (p.Asp156=)
5g.70946108G>ACA360096821SMN1c.766G>A (p.Asp256Asn)
c.670G>A (p.Asp224Asn)
n.20G>A
n.333G>A
c.565G>A (p.Asp189Asn)
n.283G>A
c.469G>A (p.Asp157Asn)
5g.70946108G>CCA360096824SMN1c.766G>C (p.Asp256His)
c.670G>C (p.Asp224His)
n.20G>C
n.333G>C
c.565G>C (p.Asp189His)
n.283G>C
c.469G>C (p.Asp157His)
5g.70946108G>TCA360096827SMN1c.766G>T (p.Asp256Tyr)
c.670G>T (p.Asp224Tyr)
n.20G>T
n.333G>T
c.565G>T (p.Asp189Tyr)
n.283G>T
c.469G>T (p.Asp157Tyr)
5g.70946109A=CA1554172350SMN1c.767A= (p.Asp256=)
c.671A= (p.Asp224=)
n.21A=
n.334A=
c.566A= (p.Asp189=)
n.284A=
c.470A= (p.Asp157=)
5g.70946109A>CCA360096831SMN1c.767A>C (p.Asp256Ala)
c.671A>C (p.Asp224Ala)
n.21A>C
n.334A>C
c.566A>C (p.Asp189Ala)
n.284A>C
c.470A>C (p.Asp157Ala)
5g.70946109A>GCA360096833SMN1c.767A>G (p.Asp256Gly)
c.671A>G (p.Asp224Gly)
n.21A>G
n.334A>G
c.566A>G (p.Asp189Gly)
n.284A>G
c.470A>G (p.Asp157Gly)
5g.70946109A>TCA360096835SMN1c.767A>T (p.Asp256Val)
c.671A>T (p.Asp224Val)
n.21A>T
n.334A>T
c.566A>T (p.Asp189Val)
n.284A>T
c.470A>T (p.Asp157Val)
5g.70946110T>ACA360096838SMN1c.768T>A (p.Asp256Glu)
c.672T>A (p.Asp224Glu)
n.22T>A
n.335T>A
c.567T>A (p.Asp189Glu)
n.285T>A
c.471T>A (p.Asp157Glu)
5g.70946110T>CCA444972612SMN1c.768T>C (p.Asp256=)
c.672T>C (p.Asp224=)
n.22T>C
n.335T>C
c.567T>C (p.Asp189=)
n.285T>C
c.471T>C (p.Asp157=)
5g.70946110T>GCA360096840SMN1c.768T>G (p.Asp256Glu)
c.672T>G (p.Asp224Glu)
n.22T>G
n.335T>G
c.567T>G (p.Asp189Glu)
n.285T>G
c.471T>G (p.Asp157Glu)
5g.70946112_70946122dupCA891843195SMN1c.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
5g.70946111G>ACA120725212SMN1c.769G>A (p.Ala257Thr)
c.673G>A (p.Ala225Thr)
n.23G>A
n.336G>A
c.568G>A (p.Ala190Thr)
n.286G>A
c.472G>A (p.Ala158Thr)
 dbSNP
5g.70946111G>CCA360096848SMN1c.769G>C (p.Ala257Pro)
c.673G>C (p.Ala225Pro)
n.23G>C
n.336G>C
c.568G>C (p.Ala190Pro)
n.286G>C
c.472G>C (p.Ala158Pro)
5g.70946111G=CA1554172351SMN1c.769G= (p.Ala257=)
c.673G= (p.Ala225=)
n.23G=
n.336G=
c.568G= (p.Ala190=)
n.286G=
c.472G= (p.Ala158=)
5g.70946111G>TCA360096851SMN1c.769G>T (p.Ala257Ser)
c.673G>T (p.Ala225Ser)
n.23G>T
n.336G>T
c.568G>T (p.Ala190Ser)
n.286G>T
c.472G>T (p.Ala158Ser)
5g.70946112C>ACA360096858SMN1c.770C>A (p.Ala257Asp)
c.674C>A (p.Ala225Asp)
n.24C>A
n.337C>A
c.569C>A (p.Ala190Asp)
n.287C>A
c.473C>A (p.Ala158Asp)
5g.70946112C>GCA360096861SMN1c.770C>G (p.Ala257Gly)
c.674C>G (p.Ala225Gly)
n.24C>G
n.337C>G
c.569C>G (p.Ala190Gly)
n.287C>G
c.473C>G (p.Ala158Gly)
5g.70946112C>TCA360096855SMN1c.770C>T (p.Ala257Val)
c.674C>T (p.Ala225Val)
n.24C>T
n.337C>T
c.569C>T (p.Ala190Val)
n.287C>T
c.473C>T (p.Ala158Val)
5g.70946113T>ACA444972677SMN1c.771T>A (p.Ala257=)
c.675T>A (p.Ala225=)
n.25T>A
n.338T>A
c.570T>A (p.Ala190=)
n.288T>A
c.474T>A (p.Ala158=)
5g.70946113T>CCA444972681SMN1c.771T>C (p.Ala257=)
c.675T>C (p.Ala225=)
n.25T>C
n.338T>C
c.570T>C (p.Ala190=)
n.288T>C
c.474T>C (p.Ala158=)
5g.70946113T>GCA444972682SMN1c.771T>G (p.Ala257=)
c.675T>G (p.Ala225=)
n.25T>G
n.338T>G
c.570T>G (p.Ala190=)
n.288T>G
c.474T>G (p.Ala158=)
5g.70946114G>ACA360096866SMN1c.772G>A (p.Asp258Asn)
c.676G>A (p.Asp226Asn)
n.26G>A
n.339G>A
c.571G>A (p.Asp191Asn)
n.289G>A
c.475G>A (p.Asp159Asn)
5g.70946114G>CCA360096868SMN1c.772G>C (p.Asp258His)
c.676G>C (p.Asp226His)
n.26G>C
n.339G>C
c.571G>C (p.Asp191His)
n.289G>C
c.475G>C (p.Asp159His)
5g.70946114G>TCA360096872SMN1c.772G>T (p.Asp258Tyr)
c.676G>T (p.Asp226Tyr)
n.26G>T
n.339G>T
c.571G>T (p.Asp191Tyr)
n.289G>T
c.475G>T (p.Asp159Tyr)
5g.70946115A>CCA360096878SMN1c.773A>C (p.Asp258Ala)
c.677A>C (p.Asp226Ala)
n.27A>C
n.340A>C
c.572A>C (p.Asp191Ala)
n.290A>C
c.476A>C (p.Asp159Ala)
5g.70946115A>GCA360096880SMN1c.773A>G (p.Asp258Gly)
c.677A>G (p.Asp226Gly)
n.27A>G
n.340A>G
c.572A>G (p.Asp191Gly)
n.290A>G
c.476A>G (p.Asp159Gly)
5g.70946115A>TCA360096883SMN1c.773A>T (p.Asp258Val)
c.677A>T (p.Asp226Val)
n.27A>T
n.340A>T
c.572A>T (p.Asp191Val)
n.290A>T
c.476A>T (p.Asp159Val)
5g.70946116T>ACA360096887SMN1c.774T>A (p.Asp258Glu)
c.678T>A (p.Asp226Glu)
n.28T>A
n.341T>A
c.573T>A (p.Asp191Glu)
n.291T>A
c.477T>A (p.Asp159Glu)
5g.70946116T>CCA444972704SMN1c.774T>C (p.Asp258=)
c.678T>C (p.Asp226=)
n.28T>C
n.341T>C
c.573T>C (p.Asp191=)
n.291T>C
c.477T>C (p.Asp159=)
5g.70946116T>GCA360096890SMN1c.774T>G (p.Asp258Glu)
c.678T>G (p.Asp226Glu)
n.28T>G
n.341T>G
c.573T>G (p.Asp191Glu)
n.291T>G
c.477T>G (p.Asp159Glu)
5g.70946117G>ACA360096895SMN1c.775G>A (p.Ala259Thr)
c.679G>A (p.Ala227Thr)
n.29G>A
n.342G>A
c.574G>A (p.Ala192Thr)
n.292G>A
c.478G>A (p.Ala160Thr)
5g.70946117G>CCA360096897SMN1c.775G>C (p.Ala259Pro)
c.679G>C (p.Ala227Pro)
n.29G>C
n.342G>C
c.574G>C (p.Ala192Pro)
n.292G>C
c.478G>C (p.Ala160Pro)
5g.70946117G>TCA360096899SMN1c.775G>T (p.Ala259Ser)
c.679G>T (p.Ala227Ser)
n.29G>T
n.342G>T
c.574G>T (p.Ala192Ser)
n.292G>T
c.478G>T (p.Ala160Ser)
5g.70946118C>ACA360096903SMN1c.776C>A (p.Ala259Asp)
c.680C>A (p.Ala227Asp)
n.30C>A
n.343C>A
c.575C>A (p.Ala192Asp)
n.293C>A
c.479C>A (p.Ala160Asp)
 gnomAD v4
5g.70946118C>GCA360096907SMN1c.776C>G (p.Ala259Gly)
c.680C>G (p.Ala227Gly)
n.30C>G
n.343C>G
c.575C>G (p.Ala192Gly)
n.293C>G
c.479C>G (p.Ala160Gly)
5g.70946118C>TCA360096909SMN1c.776C>T (p.Ala259Val)
c.680C>T (p.Ala227Val)
n.30C>T
n.343C>T
c.575C>T (p.Ala192Val)
n.293C>T
c.479C>T (p.Ala160Val)
5g.70946119T>ACA444972751SMN1c.777T>A (p.Ala259=)
c.681T>A (p.Ala227=)
n.31T>A
n.344T>A
c.576T>A (p.Ala192=)
n.294T>A
c.480T>A (p.Ala160=)
5g.70946119T>CCA444972764SMN1c.777T>C (p.Ala259=)
c.681T>C (p.Ala227=)
n.31T>C
n.344T>C
c.576T>C (p.Ala192=)
n.294T>C
c.480T>C (p.Ala160=)
5g.70946119T>GCA444972759SMN1c.777T>G (p.Ala259=)
c.681T>G (p.Ala227=)
n.31T>G
n.344T>G
c.576T>G (p.Ala192=)
n.294T>G
c.480T>G (p.Ala160=)
5g.70946120T>ACA360096916SMN1c.778T>A (p.Leu260Met)
c.682T>A (p.Leu228Met)
n.32T>A
n.345T>A
c.577T>A (p.Leu193Met)
n.295T>A
c.481T>A (p.Leu161Met)
5g.70946120T>CCA444972767SMN1c.778T>C (p.Leu260=)
c.682T>C (p.Leu228=)
n.32T>C
n.345T>C
c.577T>C (p.Leu193=)
n.295T>C
c.481T>C (p.Leu161=)
5g.70946120T>GCA360096914SMN1c.778T>G (p.Leu260Val)
c.682T>G (p.Leu228Val)
n.32T>G
n.345T>G
c.577T>G (p.Leu193Val)
n.295T>G
c.481T>G (p.Leu161Val)
5g.70946121T>ACA360096918SMN1c.779T>A (p.Leu260Ter)
c.683T>A (p.Leu228Ter)
n.33T>A
n.346T>A
c.578T>A (p.Leu193Ter)
n.296T>A
c.482T>A (p.Leu161Ter)
5g.70946121T>CCA360096920SMN1c.779T>C (p.Leu260Ser)
c.683T>C (p.Leu228Ser)
n.33T>C
n.346T>C
c.578T>C (p.Leu193Ser)
n.296T>C
c.482T>C (p.Leu161Ser)
5g.70946121T>GCA360096923SMN1c.779T>G (p.Leu260Trp)
c.683T>G (p.Leu228Trp)
n.33T>G
n.346T>G
c.578T>G (p.Leu193Trp)
n.296T>G
c.482T>G (p.Leu161Trp)
5g.70946122G>ACA444972783SMN1c.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=)
5g.70946122G>CCA360096926SMN1c.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)
5g.70946122G>TCA360096930SMN1c.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
5g.70946123G>ACA360096939SMN1c.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)
5g.70946123G>CCA360096936SMN1c.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)
5g.70946123G>TCA360096934SMN1c.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
5g.70946124G>ACA360096943SMN1c.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)
5g.70946124G>CCA360096945SMN1c.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)
5g.70946124G>TCA360096948SMN1c.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
5g.70946125A>CCA444972817SMN1c.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=)
5g.70946125A>GCA444972819SMN1c.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=)
5g.70946125A>TCA444972818SMN1c.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
5g.70946126A=CA1554172352SMN1c.784A= (p.Ser262=)
c.688A= (p.Ser230=)
n.38A=
n.351A=
c.583A= (p.Ser195=)
n.301A=
c.487A= (p.Ser163=)
5g.70946126A>CCA360096952SMN1c.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)
5g.70946126A>GCA254694SMN1c.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
5g.70946126A>TCA360096954SMN1c.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)
5g.70946127G>ACA360096956SMN1c.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)
5g.70946127G>CCA360096960SMN1c.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)
5g.70946127G=CA1554172353SMN1c.785G= (p.Ser262=)
c.689G= (p.Ser230=)
n.39G=
n.352G=
c.584G= (p.Ser195=)
n.302G=
c.488G= (p.Ser163=)
5g.70946127G>TCA254675SMN1c.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
5g.70946128T>ACA360096964SMN1c.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)
5g.70946128T>CCA444972852SMN1c.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=)
5g.70946128T>GCA360096967SMN1c.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)
5g.70946129A>CCA360096971SMN1c.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)
5g.70946129A>GCA360096977SMN1c.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)
5g.70946129A>TCA360096974SMN1c.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
5g.70946130T>ACA360096982SMN1c.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)
5g.70946130T>CCA360096984SMN1c.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)
5g.70946130T>GCA360096988SMN1c.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)
5g.70946131G>ACA360096994SMN1c.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)
5g.70946131G>CCA360096995SMN1c.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)
5g.70946131G>TCA360096996SMN1c.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)
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=)
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

Number of alleles fetched