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.70946065G>ACA360096487SMN1c.724-1G>A (p.=)
n.724-1G>A (p.=)
c.628-1G>A (p.=)
n.418-1G>A (p.=)
n.291-1G>A
c.523-1G>A (p.=)
n.241-1G>A
c.427-1G>A (p.=)
5g.70946065G>CCA360096489SMN1c.724-1G>C (p.=)
n.724-1G>C (p.=)
c.628-1G>C (p.=)
n.418-1G>C (p.=)
n.291-1G>C
c.523-1G>C (p.=)
n.241-1G>C
c.427-1G>C (p.=)
5g.70946065G>TCA360096491SMN1c.724-1G>T (p.=)
n.724-1G>T (p.=)
c.628-1G>T (p.=)
n.418-1G>T (p.=)
n.291-1G>T
c.523-1G>T (p.=)
n.241-1G>T
c.427-1G>T (p.=)
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.70946066A>CCA360096494SMN1c.724A>C (p.Ile242Leu)
n.724A>C (p.Ile242Leu)
c.628A>C (p.Ile210Leu)
n.418A>C (p.=)
n.291A>C
c.523A>C (p.Ile175Leu)
n.241A>C
c.427A>C (p.Ile143Leu)
5g.70946066A>GCA360096496SMN1c.724A>G (p.Ile242Val)
n.724A>G (p.Ile242Val)
c.628A>G (p.Ile210Val)
n.418A>G (p.=)
n.291A>G
c.523A>G (p.Ile175Val)
n.241A>G
c.427A>G (p.Ile143Val)
5g.70946066A>TCA360096498SMN1c.724A>T (p.Ile242Leu)
n.724A>T (p.Ile242Leu)
c.628A>T (p.Ile210Leu)
n.418A>T (p.=)
n.291A>T
c.523A>T (p.Ile175Leu)
n.241A>T
c.427A>T (p.Ile143Leu)
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.70946067T>ACA360096500SMN1c.725T>A (p.Ile242Lys)
n.725T>A (p.Ile242Lys)
c.629T>A (p.Ile210Lys)
n.419T>A (p.=)
n.292T>A
c.524T>A (p.Ile175Lys)
n.242T>A
c.428T>A (p.Ile143Lys)
5g.70946067T>CCA360096504SMN1c.725T>C (p.Ile242Thr)
n.725T>C (p.Ile242Thr)
c.629T>C (p.Ile210Thr)
n.419T>C (p.=)
n.292T>C
c.524T>C (p.Ile175Thr)
n.242T>C
c.428T>C (p.Ile143Thr)
5g.70946067T>GCA360096505SMN1c.725T>G (p.Ile242Arg)
n.725T>G (p.Ile242Arg)
c.629T>G (p.Ile210Arg)
n.419T>G (p.=)
n.292T>G
c.524T>G (p.Ile175Arg)
n.242T>G
c.428T>G (p.Ile143Arg)
5g.70946068A>CCA444972070SMN1c.726A>C (p.Ile242=)
n.726A>C (p.Ile242=)
c.630A>C (p.Ile210=)
n.420A>C (p.=)
n.293A>C
c.525A>C (p.Ile175=)
n.243A>C
c.429A>C (p.Ile143=)
5g.70946068A>GCA360096506SMN1c.726A>G (p.Ile242Met)
n.726A>G (p.Ile242Met)
c.630A>G (p.Ile210Met)
n.420A>G (p.=)
n.293A>G
c.525A>G (p.Ile175Met)
n.243A>G
c.429A>G (p.Ile143Met)
5g.70946068A>TCA444972078SMN1c.726A>T (p.Ile242=)
n.726A>T (p.Ile242=)
c.630A>T (p.Ile210=)
n.420A>T (p.=)
n.293A>T
c.525A>T (p.Ile175=)
n.243A>T
c.429A>T (p.Ile143=)
5g.70946069A>CCA360096509SMN1c.727A>C (p.Ile243Leu)
n.727A>C (p.Ile243Leu)
c.631A>C (p.Ile211Leu)
n.421A>C (p.=)
n.294A>C
c.526A>C (p.Ile176Leu)
n.244A>C
c.430A>C (p.Ile144Leu)
5g.70946069A>GCA360096510SMN1c.727A>G (p.Ile243Val)
n.727A>G (p.Ile243Val)
c.631A>G (p.Ile211Val)
n.421A>G (p.=)
n.294A>G
c.526A>G (p.Ile176Val)
n.244A>G
c.430A>G (p.Ile144Val)
5g.70946069A>TCA360096512SMN1c.727A>T (p.Ile243Phe)
n.727A>T (p.Ile243Phe)
c.631A>T (p.Ile211Phe)
n.421A>T (p.=)
n.294A>T
c.526A>T (p.Ile176Phe)
n.244A>T
c.430A>T (p.Ile144Phe)
5g.70946070T>ACA360096518SMN1c.728T>A (p.Ile243Asn)
n.728T>A (p.Ile243Asn)
c.632T>A (p.Ile211Asn)
n.422T>A (p.=)
n.295T>A
c.527T>A (p.Ile176Asn)
n.245T>A
c.431T>A (p.Ile144Asn)
5g.70946070T>CCA360096520SMN1c.728T>C (p.Ile243Thr)
n.728T>C (p.Ile243Thr)
c.632T>C (p.Ile211Thr)
n.422T>C (p.=)
n.295T>C
c.527T>C (p.Ile176Thr)
n.245T>C
c.431T>C (p.Ile144Thr)
5g.70946070T>GCA360096515SMN1c.728T>G (p.Ile243Ser)
n.728T>G (p.Ile243Ser)
c.632T>G (p.Ile211Ser)
n.422T>G (p.=)
n.295T>G
c.527T>G (p.Ile176Ser)
n.245T>G
c.431T>G (p.Ile144Ser)
5g.70946071T>ACA444972106SMN1c.729T>A (p.Ile243=)
n.729T>A (p.Ile243=)
c.633T>A (p.Ile211=)
n.423T>A (p.=)
n.296T>A
c.528T>A (p.Ile176=)
n.246T>A
c.432T>A (p.Ile144=)
5g.70946071T>CCA444972122SMN1c.729T>C (p.Ile243=)
n.729T>C (p.Ile243=)
c.633T>C (p.Ile211=)
n.423T>C (p.=)
n.296T>C
c.528T>C (p.Ile176=)
n.246T>C
c.432T>C (p.Ile144=)
5g.70946071T>GCA360096525SMN1c.729T>G (p.Ile243Met)
n.729T>G (p.Ile243Met)
c.633T>G (p.Ile211Met)
n.423T>G (p.=)
n.296T>G
c.528T>G (p.Ile176Met)
n.246T>G
c.432T>G (p.Ile144Met)
5g.70946072C>ACA360096536SMN1c.730C>A (p.Pro244Thr)
n.730C>A (p.Pro244Thr)
c.634C>A (p.Pro212Thr)
n.424C>A (p.=)
n.297C>A
c.529C>A (p.Pro177Thr)
n.247C>A
c.433C>A (p.Pro145Thr)
5g.70946072C>GCA360096529SMN1c.730C>G (p.Pro244Ala)
n.730C>G (p.Pro244Ala)
c.634C>G (p.Pro212Ala)
n.424C>G (p.=)
n.297C>G
c.529C>G (p.Pro177Ala)
n.247C>G
c.433C>G (p.Pro145Ala)
5g.70946072C>TCA360096532SMN1c.730C>T (p.Pro244Ser)
n.730C>T (p.Pro244Ser)
c.634C>T (p.Pro212Ser)
n.424C>T (p.=)
n.297C>T
c.529C>T (p.Pro177Ser)
n.247C>T
c.433C>T (p.Pro145Ser)
5g.70946073C>ACA360096548SMN1c.731C>A (p.Pro244His)
n.731C>A (p.Pro244His)
c.635C>A (p.Pro212His)
n.425C>A (p.=)
n.298C>A
c.530C>A (p.Pro177His)
n.248C>A
c.434C>A (p.Pro145His)
5g.70946073C>GCA360096550SMN1c.731C>G (p.Pro244Arg)
n.731C>G (p.Pro244Arg)
c.635C>G (p.Pro212Arg)
n.425C>G (p.=)
n.298C>G
c.530C>G (p.Pro177Arg)
n.248C>G
c.434C>G (p.Pro145Arg)
5g.70946073C>TCA360096554SMN1c.731C>T (p.Pro244Leu)
n.731C>T (p.Pro244Leu)
c.635C>T (p.Pro212Leu)
n.425C>T (p.=)
n.298C>T
c.530C>T (p.Pro177Leu)
n.248C>T
c.434C>T (p.Pro145Leu)
5g.70946074C>ACA444972155SMN1c.732C>A (p.Pro244=)
n.732C>A (p.Pro244=)
c.636C>A (p.Pro212=)
n.426C>A (p.=)
n.299C>A
c.531C>A (p.Pro177=)
n.249C>A
c.435C>A (p.Pro145=)
5g.70946074C>GCA444972158SMN1c.732C>G (p.Pro244=)
n.732C>G (p.Pro244=)
c.636C>G (p.Pro212=)
n.426C>G (p.=)
n.299C>G
c.531C>G (p.Pro177=)
n.249C>G
c.435C>G (p.Pro145=)
5g.70946074C>TCA444972161SMN1c.732C>T (p.Pro244=)
n.732C>T (p.Pro244=)
c.636C>T (p.Pro212=)
n.426C>T (p.=)
n.299C>T
c.531C>T (p.Pro177=)
n.249C>T
c.435C>T (p.Pro145=)
5g.70946075C>ACA360096565SMN1c.733C>A (p.Pro245Thr)
n.733C>A (p.Pro245Thr)
c.637C>A (p.Pro213Thr)
n.427C>A (p.=)
n.300C>A
c.532C>A (p.Pro178Thr)
n.250C>A
c.436C>A (p.Pro146Thr)
5g.70946075C>GCA360096563SMN1c.733C>G (p.Pro245Ala)
n.733C>G (p.Pro245Ala)
c.637C>G (p.Pro213Ala)
n.427C>G (p.=)
n.300C>G
c.532C>G (p.Pro178Ala)
n.250C>G
c.436C>G (p.Pro146Ala)
5g.70946075C>TCA360096560SMN1c.733C>T (p.Pro245Ser)
n.733C>T (p.Pro245Ser)
c.637C>T (p.Pro213Ser)
n.427C>T (p.=)
n.300C>T
c.532C>T (p.Pro178Ser)
n.250C>T
c.436C>T (p.Pro146Ser)
5g.70946076C>ACA360096574SMN1c.734C>A (p.Pro245Gln)
n.734C>A (p.Pro245Gln)
c.638C>A (p.Pro213Gln)
n.428C>A (p.=)
n.301C>A
c.533C>A (p.Pro178Gln)
n.251C>A
c.437C>A (p.Pro146Gln)
5g.70946076C>GCA360096576SMN1c.734C>G (p.Pro245Arg)
n.734C>G (p.Pro245Arg)
c.638C>G (p.Pro213Arg)
n.428C>G (p.=)
n.301C>G
c.533C>G (p.Pro178Arg)
n.251C>G
c.437C>G (p.Pro146Arg)
5g.70946076C>TCA360096578SMN1c.734C>T (p.Pro245Leu)
n.734C>T (p.Pro245Leu)
c.638C>T (p.Pro213Leu)
n.428C>T (p.=)
n.301C>T
c.533C>T (p.Pro178Leu)
n.251C>T
c.437C>T (p.Pro146Leu)
5g.70946077A>CCA444972189SMN1c.735A>C (p.Pro245=)
n.735A>C (p.Pro245=)
c.639A>C (p.Pro213=)
n.429A>C (p.=)
n.302A>C
c.534A>C (p.Pro178=)
n.252A>C
c.438A>C (p.Pro146=)
5g.70946077A>GCA444972190SMN1c.735A>G (p.Pro245=)
n.735A>G (p.Pro245=)
c.639A>G (p.Pro213=)
n.429A>G (p.=)
n.302A>G
c.534A>G (p.Pro178=)
n.252A>G
c.438A>G (p.Pro146=)
5g.70946077A>TCA444972194SMN1c.735A>T (p.Pro245=)
n.735A>T (p.Pro245=)
c.639A>T (p.Pro213=)
n.429A>T (p.=)
n.302A>T
c.534A>T (p.Pro178=)
n.252A>T
c.438A>T (p.Pro146=)
5g.70946078C>ACA360096583SMN1c.736C>A (p.Pro246Thr)
n.736C>A (p.Pro246Thr)
c.640C>A (p.Pro214Thr)
n.430C>A (p.=)
n.303C>A
c.535C>A (p.Pro179Thr)
n.253C>A
c.439C>A (p.Pro147Thr)
5g.70946078C>GCA360096585SMN1c.736C>G (p.Pro246Ala)
n.736C>G (p.Pro246Ala)
c.640C>G (p.Pro214Ala)
n.430C>G (p.=)
n.303C>G
c.535C>G (p.Pro179Ala)
n.253C>G
c.439C>G (p.Pro147Ala)
5g.70946078C>TCA360096588SMN1c.736C>T (p.Pro246Ser)
n.736C>T (p.Pro246Ser)
c.640C>T (p.Pro214Ser)
n.430C>T (p.=)
n.303C>T
c.535C>T (p.Pro179Ser)
n.253C>T
c.439C>T (p.Pro147Ser)
5g.70946079C>ACA360096609SMN1c.737C>A (p.Pro246Gln)
n.737C>A (p.Pro246Gln)
c.641C>A (p.Pro214Gln)
n.431C>A (p.=)
n.304C>A
c.536C>A (p.Pro179Gln)
n.254C>A
c.440C>A (p.Pro147Gln)
5g.70946079C>GCA360096593SMN1c.737C>G (p.Pro246Arg)
n.737C>G (p.Pro246Arg)
c.641C>G (p.Pro214Arg)
n.431C>G (p.=)
n.304C>G
c.536C>G (p.Pro179Arg)
n.254C>G
c.440C>G (p.Pro147Arg)
5g.70946079C>TCA360096597SMN1c.737C>T (p.Pro246Leu)
n.737C>T (p.Pro246Leu)
c.641C>T (p.Pro214Leu)
n.431C>T (p.=)
n.304C>T
c.536C>T (p.Pro179Leu)
n.254C>T
c.440C>T (p.Pro147Leu)
5g.70946080A>CCA444972238SMN1c.738A>C (p.Pro246=)
n.738A>C (p.Pro246=)
c.642A>C (p.Pro214=)
n.305A>C
c.537A>C (p.Pro179=)
n.255A>C
c.441A>C (p.Pro147=)
COSMIC
5g.70946080A>GCA444972241SMN1c.738A>G (p.Pro246=)
n.738A>G (p.Pro246=)
c.642A>G (p.Pro214=)
n.305A>G
c.537A>G (p.Pro179=)
n.255A>G
c.441A>G (p.Pro147=)

Number of alleles fetched