Table 1 Mutations in SMN1
From: High-throughput screening reveals novel mutations in spinal muscular atrophy patients
| Position | MT | Ex-In | Function | REF > ALT | dbSNP | cHGVS | AAChange | Frequency |
|---|---|---|---|---|---|---|---|---|
| 70,234,668 | snv | exon2 | synonymous | C > T | NA | c.[84C > T] | NA | 3.61% (3/83) |
| 70,220,892 | snv | exon3 | stop-gain | C > T | NA | c.[271C > T] | p.[Gln91X] | 2.41% (2/83) |
| 70,238,373 | snv | exon4 | synonymous | A > G | rs4915 | c.[462A > G] | NA | 83.13% (69/83) |
| 70,220,892 | snv | UTR5 | unknown | A > G | NA | c.[−39A > G] | NA | 4.82% (4/83) |
| 70,240,639 | snv | intron | unknown | G > C | NA | g.[70240639G > C] | NA | 8.43% (7/83) |
| 70,247,937 | snv | intron | unknown | A > C | rs200563560 | g.[70247937A > C] | NA | 1.20% (1/83) |