Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.70936291_70945268delCA915943371SMN1c.82-2548_723+515del
c.82-2548_628-798del
c.82-2548_522+515del
c.82-2548_427-798del
ClinVar
5g.70942356_70942367delinsAGTGGAAAGTTGCA1554171485SMN1c.274-2_283delinsAGTGGAAAGTTG
c.274-362_274-351delinsAGTGGAAAGTTG (n.274-362_274-351delinsAGTGGAAAGTTG)
5g.70942358_70942368delCA913189520SMN1c.274_284del
c.274-360_274-350del (n.274-360_274-350del)
ClinVar dbSNP
5g.70942367G>ACA360093339SMN1c.283G>A (p.Gly95Arg)
c.274-351G>A (n.274-351G>A)
5g.70942367G>CCA254690SMN1c.283G>C (p.Gly95Arg)
c.274-351G>C (n.274-351G>C)
ClinVar dbSNP
5g.70942367G=CA1554171488SMN1c.283G= (p.Gly95=)
c.274-351G= (n.274-351G=)
5g.70942367G>TCA360093345SMN1c.283G>T (p.Gly95Trp)
c.274-351G>T (n.274-351G>T)
5g.70942370delCA2695204541SMN1c.286del (p.Asp96ThrfsTer?)
c.274-348del (n.274-348del)
5g.70942368G>ACA360093350SMN1c.284G>A (p.Gly95Glu)
c.274-350G>A (n.274-350G>A)
5g.70942368G>CCA360093352SMN1c.284G>C (p.Gly95Ala)
c.274-350G>C (n.274-350G>C)
5g.70942368G>TCA360093354SMN1c.284G>T (p.Gly95Val)
c.274-350G>T (n.274-350G>T)
5g.70942369G>ACA444965964SMN1c.285G>A (p.Gly95=)
c.274-349G>A (n.274-349G>A)
5g.70942369G>CCA444965968SMN1c.285G>C (p.Gly95=)
c.274-349G>C (n.274-349G>C)
5g.70942369G>TCA444965967SMN1c.285G>T (p.Gly95=)
c.274-349G>T (n.274-349G>T)
5g.70942370G>ACA360093359SMN1c.286G>A (p.Asp96Asn)
c.274-348G>A (n.274-348G>A)
5g.70942370G>CCA360093362SMN1c.286G>C (p.Asp96His)
c.274-348G>C (n.274-348G>C)
5g.70942370G>TCA360093365SMN1c.286G>T (p.Asp96Tyr)
c.274-348G>T (n.274-348G>T)
5g.70942371A>CCA360093368SMN1c.287A>C (p.Asp96Ala)
c.274-347A>C (n.274-347A>C)
5g.70942371A>GCA360093371SMN1c.287A>G (p.Asp96Gly)
c.274-347A>G (n.274-347A>G)
5g.70942371A>TCA360093373SMN1c.287A>T (p.Asp96Val)
c.274-347A>T (n.274-347A>T)
5g.70942372C>ACA360093381SMN1c.288C>A (p.Asp96Glu)
c.274-346C>A (n.274-346C>A)
5g.70942372C>GCA360093378SMN1c.288C>G (p.Asp96Glu)
c.274-346C>G (n.274-346C>G)
5g.70942372C>TCA444965977SMN1c.288C>T (p.Asp96=)
c.274-346C>T (n.274-346C>T)
5g.70942373A>CCA360093384SMN1c.289A>C (p.Lys97Gln)
c.274-345A>C (n.274-345A>C)
5g.70942373A>GCA360093388SMN1c.289A>G (p.Lys97Glu)
c.274-345A>G (n.274-345A>G)
5g.70942373A>TCA360093393SMN1c.289A>T (p.Lys97Ter)
c.274-345A>T (n.274-345A>T)
5g.70942375delCA2573050771SMN1c.291del (p.Lys97AsnfsTer?)
c.274-343del (n.274-343del)
ClinVar dbSNP
5g.70942374A>CCA360093396SMN1c.290A>C (p.Lys97Thr)
c.274-344A>C (n.274-344A>C)
5g.70942374A>GCA360093400SMN1c.290A>G (p.Lys97Arg)
c.274-344A>G (n.274-344A>G)
5g.70942374A>TCA360093402SMN1c.290A>T (p.Lys97Ile)
c.274-344A>T (n.274-344A>T)
5g.70942375A>CCA360093407SMN1c.291A>C (p.Lys97Asn)
c.274-343A>C (n.274-343A>C)
5g.70942375A>GCA444965999SMN1c.291A>G (p.Lys97=)
c.274-343A>G (n.274-343A>G)
5g.70942375A>TCA360093410SMN1c.291A>T (p.Lys97Asn)
c.274-343A>T (n.274-343A>T)
5g.70942376T>ACA360093421SMN1c.292T>A (p.Cys98Ser)
c.274-342T>A (n.274-342T>A)
5g.70942376T>CCA360093426SMN1c.292T>C (p.Cys98Arg)
c.274-342T>C (n.274-342T>C)
5g.70942376T>GCA360093428SMN1c.292T>G (p.Cys98Gly)
c.274-342T>G (n.274-342T>G)
5g.70942377G>ACA360093439SMN1c.293G>A (p.Cys98Tyr)
c.274-341G>A (n.274-341G>A)
5g.70942377G>CCA360093437SMN1c.293G>C (p.Cys98Ser)
c.274-341G>C (n.274-341G>C)
5g.70942377G>TCA360093434SMN1c.293G>T (p.Cys98Phe)
c.274-341G>T (n.274-341G>T)
5g.70942378T>ACA360093444SMN1c.294T>A (p.Cys98Ter)
c.274-340T>A (n.274-340T>A)
5g.70942378T>CCA444966020SMN1c.294T>C (p.Cys98=)
c.274-340T>C (n.274-340T>C)
5g.70942378T>GCA360093446SMN1c.294T>G (p.Cys98Trp)
c.274-340T>G (n.274-340T>G)
5g.70942379T>ACA360093452SMN1c.295T>A (p.Ser99Thr)
c.274-339T>A (n.274-339T>A)
5g.70942379T>CCA360093455SMN1c.295T>C (p.Ser99Pro)
c.274-339T>C (n.274-339T>C)
5g.70942379T>GCA360093457SMN1c.295T>G (p.Ser99Ala)
c.274-339T>G (n.274-339T>G)
5g.70942380C>ACA360093463SMN1c.296C>A (p.Ser99Tyr)
c.274-338C>A (n.274-338C>A)
5g.70942380C>GCA360093466SMN1c.296C>G (p.Ser99Cys)
c.274-338C>G (n.274-338C>G)
5g.70942380C>TCA360093468SMN1c.296C>T (p.Ser99Phe)
c.274-338C>T (n.274-338C>T)
5g.70942381T>ACA444966054SMN1c.297T>A (p.Ser99=)
c.274-337T>A (n.274-337T>A)
5g.70942381T>CCA444966057SMN1c.297T>C (p.Ser99=)
c.274-337T>C (n.274-337T>C)

Number of alleles fetched