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.70938837A>CCA360091709SMN1c.82-2A>C (n.82-2A>C)
5g.70938837A>GCA360091712SMN1c.82-2A>G (n.82-2A>G)
5g.70938837A>TCA360091714SMN1c.82-2A>T (n.82-2A>T)
5g.70938838G>ACA360091717SMN1c.82-1G>A (n.82-1G>A)
5g.70938838G>CCA360091721SMN1c.82-1G>C (n.82-1G>C)
5g.70938838G>TCA360091724SMN1c.82-1G>T (n.82-1G>T)
5g.70938839A>CCA360091734SMN1c.82A>C (p.Ser28Arg)
5g.70938839A>GCA360091727SMN1c.82A>G (p.Ser28Gly)
5g.70938839A>TCA360091731SMN1c.82A>T (p.Ser28Cys)
5g.70938840G>ACA360091739SMN1c.83G>A (p.Ser28Asn)
5g.70938840G>CCA360091742SMN1c.83G>C (p.Ser28Thr)
5g.70938840G>TCA360091745SMN1c.83G>T (p.Ser28Ile)
5g.70938841C>ACA360091749SMN1c.84C>A (p.Ser28Arg)
5g.70938841C=CA1554171467SMN1c.84C= (p.Ser28=)
5g.70938841C>GCA360091752SMN1c.84C>G (p.Ser28Arg)
5g.70938841C>TCA444963683SMN1c.84C>T (p.Ser28=)
ClinVar dbSNP
5g.70938842G>ACA360091761SMN1c.85G>A (p.Asp29Asn)
5g.70938842G>CCA360091756SMN1c.85G>C (p.Asp29His)
5g.70938842G>TCA360091759SMN1c.85G>T (p.Asp29Tyr)
5g.70938843A>CCA360091765SMN1c.86A>C (p.Asp29Ala)
5g.70938843A>GCA360091767SMN1c.86A>G (p.Asp29Gly)
5g.70938843A>TCA360091769SMN1c.86A>T (p.Asp29Val)
5g.70938844T>ACA360091773SMN1c.87T>A (p.Asp29Glu)
5g.70938844T>CCA444963708SMN1c.87T>C (p.Asp29=)
5g.70938844T>GCA360091776SMN1c.87T>G (p.Asp29Glu)
5g.70938845G>ACA254688SMN1c.88G>A (p.Asp30Asn)
ClinVar dbSNP
5g.70938845G>CCA360091782SMN1c.88G>C (p.Asp30His)
5g.70938845G=CA1554171468SMN1c.88G= (p.Asp30=)
5g.70938845G>TCA360091785SMN1c.88G>T (p.Asp30Tyr)

Number of alleles fetched