| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.110800863G>C | CA198363956 | MUSK | c.2485G>C (p.Val829Leu) c.2227G>C (p.Val743Leu) c.2461G>C (p.Val821Leu) c.2197G>C (p.Val733Leu) c.2515G>C (p.Val839Leu) c.2491G>C (p.Val831Leu) c.2545G>C (p.Val849Leu) c.1249G>C (p.Val417Leu) c.2251G>C (p.Val751Leu) c.1225G>C (p.Val409Leu) | dbSNP |
| 9 | g.110800863G>T | CA153741 | MUSK | c.2485G>T (p.Val829Leu) c.2227G>T (p.Val743Leu) c.2461G>T (p.Val821Leu) c.2197G>T (p.Val733Leu) c.2515G>T (p.Val839Leu) c.2491G>T (p.Val831Leu) c.2545G>T (p.Val849Leu) c.1249G>T (p.Val417Leu) c.2251G>T (p.Val751Leu) c.1225G>T (p.Val409Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.110800863G>A | CA5184639 | MUSK | c.2485G>A (p.Val829Met) c.2227G>A (p.Val743Met) c.2461G>A (p.Val821Met) c.2197G>A (p.Val733Met) c.2515G>A (p.Val839Met) c.2491G>A (p.Val831Met) c.2545G>A (p.Val849Met) c.1249G>A (p.Val417Met) c.2251G>A (p.Val751Met) c.1225G>A (p.Val409Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.110800863G= | CA1872205796 | MUSK | c.2485G= (p.Val829=) c.2227G= (p.Val743=) c.2461G= (p.Val821=) c.2197G= (p.Val733=) c.2515G= (p.Val839=) c.2491G= (p.Val831=) c.2545G= (p.Val849=) c.1249G= (p.Val417=) c.2251G= (p.Val751=) c.1225G= (p.Val409=) | dbSNP |