Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.70936291_70945268del | CA915943371 | SMN1 | c.82-2548_723+515del c.82-2548_628-798del c.82-2548_522+515del c.82-2548_427-798del | ClinVar |
5 | g.70938837A>C | CA360091709 | SMN1 | c.82-2A>C (n.82-2A>C) | |
5 | g.70938837A>G | CA360091712 | SMN1 | c.82-2A>G (n.82-2A>G) | |
5 | g.70938837A>T | CA360091714 | SMN1 | c.82-2A>T (n.82-2A>T) | |
5 | g.70938838G>A | CA360091717 | SMN1 | c.82-1G>A (n.82-1G>A) | |
5 | g.70938838G>C | CA360091721 | SMN1 | c.82-1G>C (n.82-1G>C) | |
5 | g.70938838G>T | CA360091724 | SMN1 | c.82-1G>T (n.82-1G>T) | |
5 | g.70938839A>C | CA360091734 | SMN1 | c.82A>C (p.Ser28Arg) | |
5 | g.70938839A>G | CA360091727 | SMN1 | c.82A>G (p.Ser28Gly) | |
5 | g.70938839A>T | CA360091731 | SMN1 | c.82A>T (p.Ser28Cys) | |
5 | g.70938840G>A | CA360091739 | SMN1 | c.83G>A (p.Ser28Asn) | |
5 | g.70938840G>C | CA360091742 | SMN1 | c.83G>C (p.Ser28Thr) | |
5 | g.70938840G>T | CA360091745 | SMN1 | c.83G>T (p.Ser28Ile) | |
5 | g.70938841C>A | CA360091749 | SMN1 | c.84C>A (p.Ser28Arg) | |
5 | g.70938841C= | CA1554171467 | SMN1 | c.84C= (p.Ser28=) | |
5 | g.70938841C>G | CA360091752 | SMN1 | c.84C>G (p.Ser28Arg) | |
5 | g.70938841C>T | CA444963683 | SMN1 | c.84C>T (p.Ser28=) | ClinVar dbSNP |
5 | g.70938842G>A | CA360091761 | SMN1 | c.85G>A (p.Asp29Asn) | |
5 | g.70938842G>C | CA360091756 | SMN1 | c.85G>C (p.Asp29His) | |
5 | g.70938842G>T | CA360091759 | SMN1 | c.85G>T (p.Asp29Tyr) | |
5 | g.70938843A>C | CA360091765 | SMN1 | c.86A>C (p.Asp29Ala) | |
5 | g.70938843A>G | CA360091767 | SMN1 | c.86A>G (p.Asp29Gly) | |
5 | g.70938843A>T | CA360091769 | SMN1 | c.86A>T (p.Asp29Val) | |
5 | g.70938844T>A | CA360091773 | SMN1 | c.87T>A (p.Asp29Glu) | |
5 | g.70938844T>C | CA444963708 | SMN1 | c.87T>C (p.Asp29=) | |
5 | g.70938844T>G | CA360091776 | SMN1 | c.87T>G (p.Asp29Glu) | |
5 | g.70938845G>A | CA254688 | SMN1 | c.88G>A (p.Asp30Asn) | ClinVar dbSNP |
5 | g.70938845G>C | CA360091782 | SMN1 | c.88G>C (p.Asp30His) | |
5 | g.70938845G= | CA1554171468 | SMN1 | c.88G= (p.Asp30=) | |
5 | g.70938845G>T | CA360091785 | SMN1 | c.88G>T (p.Asp30Tyr) |