| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71681053G>A | CA1707599 | DYSF | c.3530G>A (p.Arg1177Gln) c.2747G>A (p.Arg916Gln) c.2855G>A (p.Arg952Gln) c.5999G>A (p.Arg2000Gln) c.6116G>A (p.Arg2039Gln) c.6002G>A (p.Arg2001Gln) c.6065G>A (p.Arg2022Gln) c.6113G>A (p.Arg2038Gln) c.6095G>A (p.Arg2032Gln) c.6023G>A (p.Arg2008Gln) c.6050G>A (p.Arg2017Gln) c.6053G>A (p.Arg2018Gln) c.6092G>A (p.Arg2031Gln) c.6062G>A (p.Arg2021Gln) n.2884G>A c.5957G>A (p.Arg1986Gln) c.6020G>A (p.Arg2007Gln) c.5960G>A (p.Arg1987Gln) c.6158G>A (p.Arg2053Gln) c.6155G>A (p.Arg2052Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71681053G= | CA1260157775 | DYSF | c.3530G= (p.Arg1177=) c.2747G= (p.Arg916=) c.2855G= (p.Arg952=) c.5999G= (p.Arg2000=) c.6116G= (p.Arg2039=) c.6002G= (p.Arg2001=) c.6065G= (p.Arg2022=) c.6113G= (p.Arg2038=) c.6095G= (p.Arg2032=) c.6023G= (p.Arg2008=) c.6050G= (p.Arg2017=) c.6053G= (p.Arg2018=) c.6092G= (p.Arg2031=) c.6062G= (p.Arg2021=) n.2884G= c.5957G= (p.Arg1986=) c.6020G= (p.Arg2007=) c.5960G= (p.Arg1987=) c.6158G= (p.Arg2053=) c.6155G= (p.Arg2052=) | dbSNP |
| 2 | g.71681053G>C | CA347226803 | DYSF | c.3530G>C (p.Arg1177Pro) c.2747G>C (p.Arg916Pro) c.2855G>C (p.Arg952Pro) c.5999G>C (p.Arg2000Pro) c.6116G>C (p.Arg2039Pro) c.6002G>C (p.Arg2001Pro) c.6065G>C (p.Arg2022Pro) c.6113G>C (p.Arg2038Pro) c.6095G>C (p.Arg2032Pro) c.6023G>C (p.Arg2008Pro) c.6050G>C (p.Arg2017Pro) c.6053G>C (p.Arg2018Pro) c.6092G>C (p.Arg2031Pro) c.6062G>C (p.Arg2021Pro) n.2884G>C c.5957G>C (p.Arg1986Pro) c.6020G>C (p.Arg2007Pro) c.5960G>C (p.Arg1987Pro) c.6158G>C (p.Arg2053Pro) c.6155G>C (p.Arg2052Pro) | dbSNP gnomAD v4 |