Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.70946064_70946175delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATATCA1554172347SMN1c.724-2_833delinsAGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT
n.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
n.724_834del
c.628_738del
n.291_401del
c.523_633del
n.241_351del
c.427_537del
ClinVar dbSNP
5g.70946066_70951991delCA1139658875SMN1c.724_885del
n.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.70946165G>ACA120725213SMN1c.823G>A (p.Gly275Ser)
n.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)
dbSNP
5g.70946165G>CCA360097293SMN1c.823G>C (p.Gly275Arg)
n.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=)
n.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)
n.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)
n.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
5g.70946166G>CCA360097303SMN1c.824G>C (p.Gly275Ala)
n.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=)
n.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)
n.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=)
n.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=)
n.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=)
n.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)
n.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)
n.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)
n.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)
n.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)
n.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)
n.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)
n.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=)
n.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)
n.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)
n.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)
n.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)
n.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)
n.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)
n.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)
n.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)
n.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=)
n.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)
n.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)
n.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)
n.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)
n.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)
n.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)
n.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)
n.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)
n.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)
n.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)
n.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 (p.=)
n.834+1G>A (p.=)
c.738+1G>A (p.=)
n.88+1G>A
n.402G>A
c.633+1G>A (p.=)
n.352G>A
c.537+1G>A (p.=)
5g.70946177G>CCA360097395SMN1c.834+1G>C (p.=)
n.834+1G>C (p.=)
c.738+1G>C (p.=)
n.88+1G>C
n.402G>C
c.633+1G>C (p.=)
n.352G>C
c.537+1G>C (p.=)
5g.70946177G>TCA360097392SMN1c.834+1G>T (p.=)
n.834+1G>T (p.=)
c.738+1G>T (p.=)
n.88+1G>T
n.402G>T
c.633+1G>T (p.=)
n.352G>T
c.537+1G>T (p.=)
5g.70946178T>ACA360097397SMN1c.834+2T>A (p.=)
n.834+2T>A (p.=)
c.738+2T>A (p.=)
n.88+2T>A
n.403T>A
c.633+2T>A (p.=)
n.353T>A
c.537+2T>A (p.=)
5g.70946178T>CCA360097401SMN1c.834+2T>C (p.=)
n.834+2T>C (p.=)
c.738+2T>C (p.=)
n.88+2T>C
n.403T>C
c.633+2T>C (p.=)
n.353T>C
c.537+2T>C (p.=)
5g.70946178T>GCA360097399SMN1c.834+2T>G (p.=)
n.834+2T>G (p.=)
c.738+2T>G (p.=)
n.88+2T>G
n.403T>G
c.633+2T>G (p.=)
n.353T>G
c.537+2T>G (p.=)
5g.70946206C>ACA120725214SMN1c.834+30C>A (p.=)
n.834+30C>A (p.=)
c.738+30C>A (p.=)
n.88+30C>A
n.431C>A
c.633+30C>A (p.=)
n.381C>A
c.537+30C>A (p.=)
dbSNP
5g.70946206C=CA1554172361SMN1c.834+30C= (p.=)
n.834+30C= (p.=)
c.738+30C= (p.=)
n.88+30C=
n.431C=
c.633+30C= (p.=)
n.381C=
c.537+30C= (p.=)
5g.70946207A=CA1554172362SMN1c.834+31A= (p.=)
n.834+31A= (p.=)
c.738+31A= (p.=)
n.88+31A=
n.432A=
c.633+31A= (p.=)
n.382A=
c.537+31A= (p.=)

Number of alleles fetched