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.70938739A= | CA1554171465 | SMN1 | c.82-100A= (n.82-100A=) | |
5 | g.70938739A>C | CA1554171466 | SMN1 | c.82-100A>C (n.82-100A>C) | dbSNP |
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) |