| 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.70938888A= | CA1554171471 | SMN1 | c.131A= (p.Asp44=) | |
| 5 | g.70938888A>C | CA360092120 | SMN1 | c.131A>C (p.Asp44Ala) | |
| 5 | g.70938888A>G | CA360092123 | SMN1 | c.131A>G (p.Asp44Gly) | |
| 5 | g.70938888A>T | CA254683 | SMN1 | c.131A>T (p.Asp44Val) | ClinVar dbSNP |
| 5 | g.70938889T>A | CA360092126 | SMN1 | c.132T>A (p.Asp44Glu) | |
| 5 | g.70938889T>C | CA444964001 | SMN1 | c.132T>C (p.Asp44=) | |
| 5 | g.70938889T>G | CA360092128 | SMN1 | c.132T>G (p.Asp44Glu) | |
| 5 | g.70938889T= | CA1554171472 | SMN1 | c.132T= (p.Asp44=) | |
| 5 | g.70938890A>C | CA360092130 | SMN1 | c.133A>C (p.Lys45Gln) | |
| 5 | g.70938890A>G | CA360092132 | SMN1 | c.133A>G (p.Lys45Glu) | |
| 5 | g.70938890A>T | CA360092134 | SMN1 | c.133A>T (p.Lys45Ter) | |
| 5 | g.70938892dup | CA658657451 | SMN1 | c.135dup (p.Ala46SerfsTer6) | ClinVar dbSNP |
| 5 | g.70938891A>C | CA360092135 | SMN1 | c.134A>C (p.Lys45Thr) | |
| 5 | g.70938891A>G | CA360092138 | SMN1 | c.134A>G (p.Lys45Arg) | |
| 5 | g.70938891A>T | CA360092140 | SMN1 | c.134A>T (p.Lys45Ile) | |
| 5 | g.70938892A>C | CA360092142 | SMN1 | c.135A>C (p.Lys45Asn) | |
| 5 | g.70938892A>G | CA444964017 | SMN1 | c.135A>G (p.Lys45=) | |
| 5 | g.70938892A>T | CA360092144 | SMN1 | c.135A>T (p.Lys45Asn) | |
| 5 | g.70938893G>A | CA360092146 | SMN1 | c.136G>A (p.Ala46Thr) | |
| 5 | g.70938893G>C | CA360092148 | SMN1 | c.136G>C (p.Ala46Pro) | |
| 5 | g.70938893G>T | CA360092150 | SMN1 | c.136G>T (p.Ala46Ser) | |
| 5 | g.70938894C>A | CA360092157 | SMN1 | c.137C>A (p.Ala46Asp) | |
| 5 | g.70938894C>G | CA360092155 | SMN1 | c.137C>G (p.Ala46Gly) | |
| 5 | g.70938894C>T | CA360092153 | SMN1 | c.137C>T (p.Ala46Val) | |
| 5 | g.70938895T>A | CA444964035 | SMN1 | c.138T>A (p.Ala46=) | |
| 5 | g.70938895T>C | CA444964032 | SMN1 | c.138T>C (p.Ala46=) | |
| 5 | g.70938895T>G | CA444964031 | SMN1 | c.138T>G (p.Ala46=) | |
| 5 | g.70938896G>A | CA360092158 | SMN1 | c.139G>A (p.Val47Met) | |
| 5 | g.70938896G>C | CA360092159 | SMN1 | c.139G>C (p.Val47Leu) | |
| 5 | g.70938896G>T | CA360092161 | SMN1 | c.139G>T (p.Val47Leu) | |
| 5 | g.70938897T>A | CA360092164 | SMN1 | c.140T>A (p.Val47Glu) | |
| 5 | g.70938897T>C | CA360092165 | SMN1 | c.140T>C (p.Val47Ala) | |
| 5 | g.70938897T>G | CA360092167 | SMN1 | c.140T>G (p.Val47Gly) | |
| 5 | g.70938898G>A | CA444964049 | SMN1 | c.141G>A (p.Val47=) | |
| 5 | g.70938898G>C | CA444964050 | SMN1 | c.141G>C (p.Val47=) | |
| 5 | g.70938898G>T | CA444964053 | SMN1 | c.141G>T (p.Val47=) | |
| 5 | g.70938899G>A | CA360092170 | SMN1 | c.142G>A (p.Ala48Thr) | |
| 5 | g.70938899G>C | CA360092171 | SMN1 | c.142G>C (p.Ala48Pro) | |
| 5 | g.70938899G>T | CA360092173 | SMN1 | c.142G>T (p.Ala48Ser) | |
| 5 | g.70938900C>A | CA360092175 | SMN1 | c.143C>A (p.Ala48Asp) | |
| 5 | g.70938900C>G | CA360092178 | SMN1 | c.143C>G (p.Ala48Gly) | |
| 5 | g.70938900C>T | CA360092181 | SMN1 | c.143C>T (p.Ala48Val) | |
| 5 | g.70938901T>A | CA444964070 | SMN1 | c.144T>A (p.Ala48=) | |
| 5 | g.70938901T>C | CA444964075 | SMN1 | c.144T>C (p.Ala48=) | |
| 5 | g.70938901T>G | CA444964073 | SMN1 | c.144T>G (p.Ala48=) | |
| 5 | g.70938902T>A | CA360092191 | SMN1 | c.145T>A (p.Ser49Thr) | |
| 5 | g.70938902T>C | CA360092189 | SMN1 | c.145T>C (p.Ser49Pro) | |
| 5 | g.70938902T>G | CA360092186 | SMN1 | c.145T>G (p.Ser49Ala) | |
| 5 | g.70938903C>A | CA360092194 | SMN1 | c.146C>A (p.Ser49Ter) |