Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.71686430T>C | CA1032079912 | DYSF | c.3736-24T>C (n.3736-24T>C) c.2953-24T>C (n.2953-24T>C) c.3061-24T>C (n.3061-24T>C) c.6205-24T>C (n.6205-24T>C) c.6322-24T>C (n.6322-24T>C) c.6208-24T>C (n.6208-24T>C) c.6271-24T>C (n.6271-24T>C) c.6319-24T>C (n.6319-24T>C) c.6301-24T>C (n.6301-24T>C) c.6229-24T>C (n.6229-24T>C) c.6256-24T>C (n.6256-24T>C) c.6259-24T>C (n.6259-24T>C) c.6298-24T>C (n.6298-24T>C) c.6268-24T>C (n.6268-24T>C) n.3090-24T>C c.6163-24T>C (n.6163-24T>C) c.6226-24T>C (n.6226-24T>C) c.6166-24T>C (n.6166-24T>C) c.6364-24T>C (n.6364-24T>C) c.6361-24T>C (n.6361-24T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71686430T>G | CA2659556525 | DYSF | c.3736-24T>G (n.3736-24T>G) c.2953-24T>G (n.2953-24T>G) c.3061-24T>G (n.3061-24T>G) c.6205-24T>G (n.6205-24T>G) c.6322-24T>G (n.6322-24T>G) c.6208-24T>G (n.6208-24T>G) c.6271-24T>G (n.6271-24T>G) c.6319-24T>G (n.6319-24T>G) c.6301-24T>G (n.6301-24T>G) c.6229-24T>G (n.6229-24T>G) c.6256-24T>G (n.6256-24T>G) c.6259-24T>G (n.6259-24T>G) c.6298-24T>G (n.6298-24T>G) c.6268-24T>G (n.6268-24T>G) n.3090-24T>G c.6163-24T>G (n.6163-24T>G) c.6226-24T>G (n.6226-24T>G) c.6166-24T>G (n.6166-24T>G) c.6364-24T>G (n.6364-24T>G) c.6361-24T>G (n.6361-24T>G) | gnomAD v4 |
2 | g.71686430T= | CA1260160325 | DYSF | c.3736-24T= (n.3736-24T=) c.2953-24T= (n.2953-24T=) c.3061-24T= (n.3061-24T=) c.6205-24T= (n.6205-24T=) c.6322-24T= (n.6322-24T=) c.6208-24T= (n.6208-24T=) c.6271-24T= (n.6271-24T=) c.6319-24T= (n.6319-24T=) c.6301-24T= (n.6301-24T=) c.6229-24T= (n.6229-24T=) c.6256-24T= (n.6256-24T=) c.6259-24T= (n.6259-24T=) c.6298-24T= (n.6298-24T=) c.6268-24T= (n.6268-24T=) n.3090-24T= c.6163-24T= (n.6163-24T=) c.6226-24T= (n.6226-24T=) c.6166-24T= (n.6166-24T=) c.6364-24T= (n.6364-24T=) c.6361-24T= (n.6361-24T=) | |
2 | g.71686431C>A | CA2840635894 | DYSF | c.3736-23C>A (n.3736-23C>A) c.2953-23C>A (n.2953-23C>A) c.3061-23C>A (n.3061-23C>A) c.6205-23C>A (n.6205-23C>A) c.6322-23C>A (n.6322-23C>A) c.6208-23C>A (n.6208-23C>A) c.6271-23C>A (n.6271-23C>A) c.6319-23C>A (n.6319-23C>A) c.6301-23C>A (n.6301-23C>A) c.6229-23C>A (n.6229-23C>A) c.6256-23C>A (n.6256-23C>A) c.6259-23C>A (n.6259-23C>A) c.6298-23C>A (n.6298-23C>A) c.6268-23C>A (n.6268-23C>A) n.3090-23C>A c.6163-23C>A (n.6163-23C>A) c.6226-23C>A (n.6226-23C>A) c.6166-23C>A (n.6166-23C>A) c.6364-23C>A (n.6364-23C>A) c.6361-23C>A (n.6361-23C>A) | |
2 | g.71686431C>T | CA2840635893 | DYSF | c.3736-23C>T (n.3736-23C>T) c.2953-23C>T (n.2953-23C>T) c.3061-23C>T (n.3061-23C>T) c.6205-23C>T (n.6205-23C>T) c.6322-23C>T (n.6322-23C>T) c.6208-23C>T (n.6208-23C>T) c.6271-23C>T (n.6271-23C>T) c.6319-23C>T (n.6319-23C>T) c.6301-23C>T (n.6301-23C>T) c.6229-23C>T (n.6229-23C>T) c.6256-23C>T (n.6256-23C>T) c.6259-23C>T (n.6259-23C>T) c.6298-23C>T (n.6298-23C>T) c.6268-23C>T (n.6268-23C>T) n.3090-23C>T c.6163-23C>T (n.6163-23C>T) c.6226-23C>T (n.6226-23C>T) c.6166-23C>T (n.6166-23C>T) c.6364-23C>T (n.6364-23C>T) c.6361-23C>T (n.6361-23C>T) | |
2 | g.71686432C>A | CA2659556526 | DYSF | c.3736-22C>A (n.3736-22C>A) c.2953-22C>A (n.2953-22C>A) c.3061-22C>A (n.3061-22C>A) c.6205-22C>A (n.6205-22C>A) c.6322-22C>A (n.6322-22C>A) c.6208-22C>A (n.6208-22C>A) c.6271-22C>A (n.6271-22C>A) c.6319-22C>A (n.6319-22C>A) c.6301-22C>A (n.6301-22C>A) c.6229-22C>A (n.6229-22C>A) c.6256-22C>A (n.6256-22C>A) c.6259-22C>A (n.6259-22C>A) c.6298-22C>A (n.6298-22C>A) c.6268-22C>A (n.6268-22C>A) n.3090-22C>A c.6163-22C>A (n.6163-22C>A) c.6226-22C>A (n.6226-22C>A) c.6166-22C>A (n.6166-22C>A) c.6364-22C>A (n.6364-22C>A) c.6361-22C>A (n.6361-22C>A) | gnomAD v4 |
2 | g.71686432C= | CA1260160326 | DYSF | c.3736-22C= (n.3736-22C=) c.2953-22C= (n.2953-22C=) c.3061-22C= (n.3061-22C=) c.6205-22C= (n.6205-22C=) c.6322-22C= (n.6322-22C=) c.6208-22C= (n.6208-22C=) c.6271-22C= (n.6271-22C=) c.6319-22C= (n.6319-22C=) c.6301-22C= (n.6301-22C=) c.6229-22C= (n.6229-22C=) c.6256-22C= (n.6256-22C=) c.6259-22C= (n.6259-22C=) c.6298-22C= (n.6298-22C=) c.6268-22C= (n.6268-22C=) n.3090-22C= c.6163-22C= (n.6163-22C=) c.6226-22C= (n.6226-22C=) c.6166-22C= (n.6166-22C=) c.6364-22C= (n.6364-22C=) c.6361-22C= (n.6361-22C=) | |
2 | g.71686432C>G | CA1032079913 | DYSF | c.3736-22C>G (n.3736-22C>G) c.2953-22C>G (n.2953-22C>G) c.3061-22C>G (n.3061-22C>G) c.6205-22C>G (n.6205-22C>G) c.6322-22C>G (n.6322-22C>G) c.6208-22C>G (n.6208-22C>G) c.6271-22C>G (n.6271-22C>G) c.6319-22C>G (n.6319-22C>G) c.6301-22C>G (n.6301-22C>G) c.6229-22C>G (n.6229-22C>G) c.6256-22C>G (n.6256-22C>G) c.6259-22C>G (n.6259-22C>G) c.6298-22C>G (n.6298-22C>G) c.6268-22C>G (n.6268-22C>G) n.3090-22C>G c.6163-22C>G (n.6163-22C>G) c.6226-22C>G (n.6226-22C>G) c.6166-22C>G (n.6166-22C>G) c.6364-22C>G (n.6364-22C>G) c.6361-22C>G (n.6361-22C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71686433C>T | CA2659556527 | DYSF | c.3736-21C>T (n.3736-21C>T) c.2953-21C>T (n.2953-21C>T) c.3061-21C>T (n.3061-21C>T) c.6205-21C>T (n.6205-21C>T) c.6322-21C>T (n.6322-21C>T) c.6208-21C>T (n.6208-21C>T) c.6271-21C>T (n.6271-21C>T) c.6319-21C>T (n.6319-21C>T) c.6301-21C>T (n.6301-21C>T) c.6229-21C>T (n.6229-21C>T) c.6256-21C>T (n.6256-21C>T) c.6259-21C>T (n.6259-21C>T) c.6298-21C>T (n.6298-21C>T) c.6268-21C>T (n.6268-21C>T) n.3090-21C>T c.6163-21C>T (n.6163-21C>T) c.6226-21C>T (n.6226-21C>T) c.6166-21C>T (n.6166-21C>T) c.6364-21C>T (n.6364-21C>T) c.6361-21C>T (n.6361-21C>T) | gnomAD v4 |
2 | g.71686434T>A | CA2659556528 | DYSF | c.3736-20T>A (n.3736-20T>A) c.2953-20T>A (n.2953-20T>A) c.3061-20T>A (n.3061-20T>A) c.6205-20T>A (n.6205-20T>A) c.6322-20T>A (n.6322-20T>A) c.6208-20T>A (n.6208-20T>A) c.6271-20T>A (n.6271-20T>A) c.6319-20T>A (n.6319-20T>A) c.6301-20T>A (n.6301-20T>A) c.6229-20T>A (n.6229-20T>A) c.6256-20T>A (n.6256-20T>A) c.6259-20T>A (n.6259-20T>A) c.6298-20T>A (n.6298-20T>A) c.6268-20T>A (n.6268-20T>A) n.3090-20T>A c.6163-20T>A (n.6163-20T>A) c.6226-20T>A (n.6226-20T>A) c.6166-20T>A (n.6166-20T>A) c.6364-20T>A (n.6364-20T>A) c.6361-20T>A (n.6361-20T>A) | gnomAD v4 |
2 | g.71686435G>C | CA2659556529 | DYSF | c.3736-19G>C (n.3736-19G>C) c.2953-19G>C (n.2953-19G>C) c.3061-19G>C (n.3061-19G>C) c.6205-19G>C (n.6205-19G>C) c.6322-19G>C (n.6322-19G>C) c.6208-19G>C (n.6208-19G>C) c.6271-19G>C (n.6271-19G>C) c.6319-19G>C (n.6319-19G>C) c.6301-19G>C (n.6301-19G>C) c.6229-19G>C (n.6229-19G>C) c.6256-19G>C (n.6256-19G>C) c.6259-19G>C (n.6259-19G>C) c.6298-19G>C (n.6298-19G>C) c.6268-19G>C (n.6268-19G>C) n.3090-19G>C c.6163-19G>C (n.6163-19G>C) c.6226-19G>C (n.6226-19G>C) c.6166-19G>C (n.6166-19G>C) c.6364-19G>C (n.6364-19G>C) c.6361-19G>C (n.6361-19G>C) | gnomAD v4 |
2 | g.71686435G= | CA1260160327 | DYSF | c.3736-19G= (n.3736-19G=) c.2953-19G= (n.2953-19G=) c.3061-19G= (n.3061-19G=) c.6205-19G= (n.6205-19G=) c.6322-19G= (n.6322-19G=) c.6208-19G= (n.6208-19G=) c.6271-19G= (n.6271-19G=) c.6319-19G= (n.6319-19G=) c.6301-19G= (n.6301-19G=) c.6229-19G= (n.6229-19G=) c.6256-19G= (n.6256-19G=) c.6259-19G= (n.6259-19G=) c.6298-19G= (n.6298-19G=) c.6268-19G= (n.6268-19G=) n.3090-19G= c.6163-19G= (n.6163-19G=) c.6226-19G= (n.6226-19G=) c.6166-19G= (n.6166-19G=) c.6364-19G= (n.6364-19G=) c.6361-19G= (n.6361-19G=) | |
2 | g.71686435G>T | CA1707684 | DYSF | c.3736-19G>T (n.3736-19G>T) c.2953-19G>T (n.2953-19G>T) c.3061-19G>T (n.3061-19G>T) c.6205-19G>T (n.6205-19G>T) c.6322-19G>T (n.6322-19G>T) c.6208-19G>T (n.6208-19G>T) c.6271-19G>T (n.6271-19G>T) c.6319-19G>T (n.6319-19G>T) c.6301-19G>T (n.6301-19G>T) c.6229-19G>T (n.6229-19G>T) c.6256-19G>T (n.6256-19G>T) c.6259-19G>T (n.6259-19G>T) c.6298-19G>T (n.6298-19G>T) c.6268-19G>T (n.6268-19G>T) n.3090-19G>T c.6163-19G>T (n.6163-19G>T) c.6226-19G>T (n.6226-19G>T) c.6166-19G>T (n.6166-19G>T) c.6364-19G>T (n.6364-19G>T) c.6361-19G>T (n.6361-19G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71686436T>A | CA533267556 | DYSF | c.3736-18T>A (n.3736-18T>A) c.2953-18T>A (n.2953-18T>A) c.3061-18T>A (n.3061-18T>A) c.6205-18T>A (n.6205-18T>A) c.6322-18T>A (n.6322-18T>A) c.6208-18T>A (n.6208-18T>A) c.6271-18T>A (n.6271-18T>A) c.6319-18T>A (n.6319-18T>A) c.6301-18T>A (n.6301-18T>A) c.6229-18T>A (n.6229-18T>A) c.6256-18T>A (n.6256-18T>A) c.6259-18T>A (n.6259-18T>A) c.6298-18T>A (n.6298-18T>A) c.6268-18T>A (n.6268-18T>A) n.3090-18T>A c.6163-18T>A (n.6163-18T>A) c.6226-18T>A (n.6226-18T>A) c.6166-18T>A (n.6166-18T>A) c.6364-18T>A (n.6364-18T>A) c.6361-18T>A (n.6361-18T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71686436T= | CA1260160328 | DYSF | c.3736-18T= (n.3736-18T=) c.2953-18T= (n.2953-18T=) c.3061-18T= (n.3061-18T=) c.6205-18T= (n.6205-18T=) c.6322-18T= (n.6322-18T=) c.6208-18T= (n.6208-18T=) c.6271-18T= (n.6271-18T=) c.6319-18T= (n.6319-18T=) c.6301-18T= (n.6301-18T=) c.6229-18T= (n.6229-18T=) c.6256-18T= (n.6256-18T=) c.6259-18T= (n.6259-18T=) c.6298-18T= (n.6298-18T=) c.6268-18T= (n.6268-18T=) n.3090-18T= c.6163-18T= (n.6163-18T=) c.6226-18T= (n.6226-18T=) c.6166-18T= (n.6166-18T=) c.6364-18T= (n.6364-18T=) c.6361-18T= (n.6361-18T=) | |
2 | g.71686437C>A | CA2659556530 | DYSF | c.3736-17C>A (n.3736-17C>A) c.2953-17C>A (n.2953-17C>A) c.3061-17C>A (n.3061-17C>A) c.6205-17C>A (n.6205-17C>A) c.6322-17C>A (n.6322-17C>A) c.6208-17C>A (n.6208-17C>A) c.6271-17C>A (n.6271-17C>A) c.6319-17C>A (n.6319-17C>A) c.6301-17C>A (n.6301-17C>A) c.6229-17C>A (n.6229-17C>A) c.6256-17C>A (n.6256-17C>A) c.6259-17C>A (n.6259-17C>A) c.6298-17C>A (n.6298-17C>A) c.6268-17C>A (n.6268-17C>A) n.3090-17C>A c.6163-17C>A (n.6163-17C>A) c.6226-17C>A (n.6226-17C>A) c.6166-17C>A (n.6166-17C>A) c.6364-17C>A (n.6364-17C>A) c.6361-17C>A (n.6361-17C>A) | gnomAD v4 |
2 | g.71686437C>T | CA2659556531 | DYSF | c.3736-17C>T (n.3736-17C>T) c.2953-17C>T (n.2953-17C>T) c.3061-17C>T (n.3061-17C>T) c.6205-17C>T (n.6205-17C>T) c.6322-17C>T (n.6322-17C>T) c.6208-17C>T (n.6208-17C>T) c.6271-17C>T (n.6271-17C>T) c.6319-17C>T (n.6319-17C>T) c.6301-17C>T (n.6301-17C>T) c.6229-17C>T (n.6229-17C>T) c.6256-17C>T (n.6256-17C>T) c.6259-17C>T (n.6259-17C>T) c.6298-17C>T (n.6298-17C>T) c.6268-17C>T (n.6268-17C>T) n.3090-17C>T c.6163-17C>T (n.6163-17C>T) c.6226-17C>T (n.6226-17C>T) c.6166-17C>T (n.6166-17C>T) c.6364-17C>T (n.6364-17C>T) c.6361-17C>T (n.6361-17C>T) | gnomAD v4 |
2 | g.71686438T= | CA1260160329 | DYSF | c.3736-16T= (n.3736-16T=) c.2953-16T= (n.2953-16T=) c.3061-16T= (n.3061-16T=) c.6205-16T= (n.6205-16T=) c.6322-16T= (n.6322-16T=) c.6208-16T= (n.6208-16T=) c.6271-16T= (n.6271-16T=) c.6319-16T= (n.6319-16T=) c.6301-16T= (n.6301-16T=) c.6229-16T= (n.6229-16T=) c.6256-16T= (n.6256-16T=) c.6259-16T= (n.6259-16T=) c.6298-16T= (n.6298-16T=) c.6268-16T= (n.6268-16T=) n.3090-16T= c.6163-16T= (n.6163-16T=) c.6226-16T= (n.6226-16T=) c.6166-16T= (n.6166-16T=) c.6364-16T= (n.6364-16T=) c.6361-16T= (n.6361-16T=) | |
2 | g.71686439C>A | CA2840635895 | DYSF | c.3736-15C>A (n.3736-15C>A) c.2953-15C>A (n.2953-15C>A) c.3061-15C>A (n.3061-15C>A) c.6205-15C>A (n.6205-15C>A) c.6322-15C>A (n.6322-15C>A) c.6208-15C>A (n.6208-15C>A) c.6271-15C>A (n.6271-15C>A) c.6319-15C>A (n.6319-15C>A) c.6301-15C>A (n.6301-15C>A) c.6229-15C>A (n.6229-15C>A) c.6256-15C>A (n.6256-15C>A) c.6259-15C>A (n.6259-15C>A) c.6298-15C>A (n.6298-15C>A) c.6268-15C>A (n.6268-15C>A) n.3090-15C>A c.6163-15C>A (n.6163-15C>A) c.6226-15C>A (n.6226-15C>A) c.6166-15C>A (n.6166-15C>A) c.6364-15C>A (n.6364-15C>A) c.6361-15C>A (n.6361-15C>A) | |
2 | g.71686439C= | CA1260160330 | DYSF | c.3736-15C= (n.3736-15C=) c.2953-15C= (n.2953-15C=) c.3061-15C= (n.3061-15C=) c.6205-15C= (n.6205-15C=) c.6322-15C= (n.6322-15C=) c.6208-15C= (n.6208-15C=) c.6271-15C= (n.6271-15C=) c.6319-15C= (n.6319-15C=) c.6301-15C= (n.6301-15C=) c.6229-15C= (n.6229-15C=) c.6256-15C= (n.6256-15C=) c.6259-15C= (n.6259-15C=) c.6298-15C= (n.6298-15C=) c.6268-15C= (n.6268-15C=) n.3090-15C= c.6163-15C= (n.6163-15C=) c.6226-15C= (n.6226-15C=) c.6166-15C= (n.6166-15C=) c.6364-15C= (n.6364-15C=) c.6361-15C= (n.6361-15C=) | |
2 | g.71686439C>G | CA2697548265 | DYSF | c.3736-15C>G (n.3736-15C>G) c.2953-15C>G (n.2953-15C>G) c.3061-15C>G (n.3061-15C>G) c.6205-15C>G (n.6205-15C>G) c.6322-15C>G (n.6322-15C>G) c.6208-15C>G (n.6208-15C>G) c.6271-15C>G (n.6271-15C>G) c.6319-15C>G (n.6319-15C>G) c.6301-15C>G (n.6301-15C>G) c.6229-15C>G (n.6229-15C>G) c.6256-15C>G (n.6256-15C>G) c.6259-15C>G (n.6259-15C>G) c.6298-15C>G (n.6298-15C>G) c.6268-15C>G (n.6268-15C>G) n.3090-15C>G c.6163-15C>G (n.6163-15C>G) c.6226-15C>G (n.6226-15C>G) c.6166-15C>G (n.6166-15C>G) c.6364-15C>G (n.6364-15C>G) c.6361-15C>G (n.6361-15C>G) | ClinVar |
2 | g.71686439C>T | CA1707685 | DYSF | c.3736-15C>T (n.3736-15C>T) c.2953-15C>T (n.2953-15C>T) c.3061-15C>T (n.3061-15C>T) c.6205-15C>T (n.6205-15C>T) c.6322-15C>T (n.6322-15C>T) c.6208-15C>T (n.6208-15C>T) c.6271-15C>T (n.6271-15C>T) c.6319-15C>T (n.6319-15C>T) c.6301-15C>T (n.6301-15C>T) c.6229-15C>T (n.6229-15C>T) c.6256-15C>T (n.6256-15C>T) c.6259-15C>T (n.6259-15C>T) c.6298-15C>T (n.6298-15C>T) c.6268-15C>T (n.6268-15C>T) n.3090-15C>T c.6163-15C>T (n.6163-15C>T) c.6226-15C>T (n.6226-15C>T) c.6166-15C>T (n.6166-15C>T) c.6364-15C>T (n.6364-15C>T) c.6361-15C>T (n.6361-15C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71686448_71686451dup | CA892689299 | DYSF | c.3736-6_3736-3dup (n.3736-6_3736-3dup) c.2953-6_2953-3dup (n.2953-6_2953-3dup) c.3061-6_3061-3dup (n.3061-6_3061-3dup) c.6205-6_6205-3dup (n.6205-6_6205-3dup) c.6322-6_6322-3dup (n.6322-6_6322-3dup) c.6208-6_6208-3dup (n.6208-6_6208-3dup) c.6271-6_6271-3dup (n.6271-6_6271-3dup) c.6319-6_6319-3dup (n.6319-6_6319-3dup) c.6301-6_6301-3dup (n.6301-6_6301-3dup) c.6229-6_6229-3dup (n.6229-6_6229-3dup) c.6256-6_6256-3dup (n.6256-6_6256-3dup) c.6259-6_6259-3dup (n.6259-6_6259-3dup) c.6298-6_6298-3dup (n.6298-6_6298-3dup) c.6268-6_6268-3dup (n.6268-6_6268-3dup) n.3090-6_3090-3dup c.6163-6_6163-3dup (n.6163-6_6163-3dup) c.6226-6_6226-3dup (n.6226-6_6226-3dup) c.6166-6_6166-3dup (n.6166-6_6166-3dup) c.6364-6_6364-3dup (n.6364-6_6364-3dup) c.6361-6_6361-3dup (n.6361-6_6361-3dup) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71686440C= | CA1260160331 | DYSF | c.3736-14C= (n.3736-14C=) c.2953-14C= (n.2953-14C=) c.3061-14C= (n.3061-14C=) c.6205-14C= (n.6205-14C=) c.6322-14C= (n.6322-14C=) c.6208-14C= (n.6208-14C=) c.6271-14C= (n.6271-14C=) c.6319-14C= (n.6319-14C=) c.6301-14C= (n.6301-14C=) c.6229-14C= (n.6229-14C=) c.6256-14C= (n.6256-14C=) c.6259-14C= (n.6259-14C=) c.6298-14C= (n.6298-14C=) c.6268-14C= (n.6268-14C=) n.3090-14C= c.6163-14C= (n.6163-14C=) c.6226-14C= (n.6226-14C=) c.6166-14C= (n.6166-14C=) c.6364-14C= (n.6364-14C=) c.6361-14C= (n.6361-14C=) | |
2 | g.71686440C>T | CA1707686 | DYSF | c.3736-14C>T (n.3736-14C>T) c.2953-14C>T (n.2953-14C>T) c.3061-14C>T (n.3061-14C>T) c.6205-14C>T (n.6205-14C>T) c.6322-14C>T (n.6322-14C>T) c.6208-14C>T (n.6208-14C>T) c.6271-14C>T (n.6271-14C>T) c.6319-14C>T (n.6319-14C>T) c.6301-14C>T (n.6301-14C>T) c.6229-14C>T (n.6229-14C>T) c.6256-14C>T (n.6256-14C>T) c.6259-14C>T (n.6259-14C>T) c.6298-14C>T (n.6298-14C>T) c.6268-14C>T (n.6268-14C>T) n.3090-14C>T c.6163-14C>T (n.6163-14C>T) c.6226-14C>T (n.6226-14C>T) c.6166-14C>T (n.6166-14C>T) c.6364-14C>T (n.6364-14C>T) c.6361-14C>T (n.6361-14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71686442C= | CA1260160332 | DYSF | c.3736-12C= (n.3736-12C=) c.2953-12C= (n.2953-12C=) c.3061-12C= (n.3061-12C=) c.6205-12C= (n.6205-12C=) c.6322-12C= (n.6322-12C=) c.6208-12C= (n.6208-12C=) c.6271-12C= (n.6271-12C=) c.6319-12C= (n.6319-12C=) c.6301-12C= (n.6301-12C=) c.6229-12C= (n.6229-12C=) c.6256-12C= (n.6256-12C=) c.6259-12C= (n.6259-12C=) c.6298-12C= (n.6298-12C=) c.6268-12C= (n.6268-12C=) n.3090-12C= c.6163-12C= (n.6163-12C=) c.6226-12C= (n.6226-12C=) c.6166-12C= (n.6166-12C=) c.6364-12C= (n.6364-12C=) c.6361-12C= (n.6361-12C=) | |
2 | g.71686442C>G | CA1707687 | DYSF | c.3736-12C>G (n.3736-12C>G) c.2953-12C>G (n.2953-12C>G) c.3061-12C>G (n.3061-12C>G) c.6205-12C>G (n.6205-12C>G) c.6322-12C>G (n.6322-12C>G) c.6208-12C>G (n.6208-12C>G) c.6271-12C>G (n.6271-12C>G) c.6319-12C>G (n.6319-12C>G) c.6301-12C>G (n.6301-12C>G) c.6229-12C>G (n.6229-12C>G) c.6256-12C>G (n.6256-12C>G) c.6259-12C>G (n.6259-12C>G) c.6298-12C>G (n.6298-12C>G) c.6268-12C>G (n.6268-12C>G) n.3090-12C>G c.6163-12C>G (n.6163-12C>G) c.6226-12C>G (n.6226-12C>G) c.6166-12C>G (n.6166-12C>G) c.6364-12C>G (n.6364-12C>G) c.6361-12C>G (n.6361-12C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71686442C>T | CA2750417999 | DYSF | c.3736-12C>T (n.3736-12C>T) c.2953-12C>T (n.2953-12C>T) c.3061-12C>T (n.3061-12C>T) c.6205-12C>T (n.6205-12C>T) c.6322-12C>T (n.6322-12C>T) c.6208-12C>T (n.6208-12C>T) c.6271-12C>T (n.6271-12C>T) c.6319-12C>T (n.6319-12C>T) c.6301-12C>T (n.6301-12C>T) c.6229-12C>T (n.6229-12C>T) c.6256-12C>T (n.6256-12C>T) c.6259-12C>T (n.6259-12C>T) c.6298-12C>T (n.6298-12C>T) c.6268-12C>T (n.6268-12C>T) n.3090-12C>T c.6163-12C>T (n.6163-12C>T) c.6226-12C>T (n.6226-12C>T) c.6166-12C>T (n.6166-12C>T) c.6364-12C>T (n.6364-12C>T) c.6361-12C>T (n.6361-12C>T) | |
2 | g.71686443C>A | CA533267558 | DYSF | c.3736-11C>A (n.3736-11C>A) c.2953-11C>A (n.2953-11C>A) c.3061-11C>A (n.3061-11C>A) c.6205-11C>A (n.6205-11C>A) c.6322-11C>A (n.6322-11C>A) c.6208-11C>A (n.6208-11C>A) c.6271-11C>A (n.6271-11C>A) c.6319-11C>A (n.6319-11C>A) c.6301-11C>A (n.6301-11C>A) c.6229-11C>A (n.6229-11C>A) c.6256-11C>A (n.6256-11C>A) c.6259-11C>A (n.6259-11C>A) c.6298-11C>A (n.6298-11C>A) c.6268-11C>A (n.6268-11C>A) n.3090-11C>A c.6163-11C>A (n.6163-11C>A) c.6226-11C>A (n.6226-11C>A) c.6166-11C>A (n.6166-11C>A) c.6364-11C>A (n.6364-11C>A) c.6361-11C>A (n.6361-11C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71686443C= | CA1260160333 | DYSF | c.3736-11C= (n.3736-11C=) c.2953-11C= (n.2953-11C=) c.3061-11C= (n.3061-11C=) c.6205-11C= (n.6205-11C=) c.6322-11C= (n.6322-11C=) c.6208-11C= (n.6208-11C=) c.6271-11C= (n.6271-11C=) c.6319-11C= (n.6319-11C=) c.6301-11C= (n.6301-11C=) c.6229-11C= (n.6229-11C=) c.6256-11C= (n.6256-11C=) c.6259-11C= (n.6259-11C=) c.6298-11C= (n.6298-11C=) c.6268-11C= (n.6268-11C=) n.3090-11C= c.6163-11C= (n.6163-11C=) c.6226-11C= (n.6226-11C=) c.6166-11C= (n.6166-11C=) c.6364-11C= (n.6364-11C=) c.6361-11C= (n.6361-11C=) | |
2 | g.71686443C>T | CA2659556532 | DYSF | c.3736-11C>T (n.3736-11C>T) c.2953-11C>T (n.2953-11C>T) c.3061-11C>T (n.3061-11C>T) c.6205-11C>T (n.6205-11C>T) c.6322-11C>T (n.6322-11C>T) c.6208-11C>T (n.6208-11C>T) c.6271-11C>T (n.6271-11C>T) c.6319-11C>T (n.6319-11C>T) c.6301-11C>T (n.6301-11C>T) c.6229-11C>T (n.6229-11C>T) c.6256-11C>T (n.6256-11C>T) c.6259-11C>T (n.6259-11C>T) c.6298-11C>T (n.6298-11C>T) c.6268-11C>T (n.6268-11C>T) n.3090-11C>T c.6163-11C>T (n.6163-11C>T) c.6226-11C>T (n.6226-11C>T) c.6166-11C>T (n.6166-11C>T) c.6364-11C>T (n.6364-11C>T) c.6361-11C>T (n.6361-11C>T) | gnomAD v4 |
2 | g.71686444C= | CA1260160334 | DYSF | c.3736-10C= (n.3736-10C=) c.2953-10C= (n.2953-10C=) c.3061-10C= (n.3061-10C=) c.6205-10C= (n.6205-10C=) c.6322-10C= (n.6322-10C=) c.6208-10C= (n.6208-10C=) c.6271-10C= (n.6271-10C=) c.6319-10C= (n.6319-10C=) c.6301-10C= (n.6301-10C=) c.6229-10C= (n.6229-10C=) c.6256-10C= (n.6256-10C=) c.6259-10C= (n.6259-10C=) c.6298-10C= (n.6298-10C=) c.6268-10C= (n.6268-10C=) n.3090-10C= c.6163-10C= (n.6163-10C=) c.6226-10C= (n.6226-10C=) c.6166-10C= (n.6166-10C=) c.6364-10C= (n.6364-10C=) c.6361-10C= (n.6361-10C=) | |
2 | g.71686444C>G | CA1707688 | DYSF | c.3736-10C>G (n.3736-10C>G) c.2953-10C>G (n.2953-10C>G) c.3061-10C>G (n.3061-10C>G) c.6205-10C>G (n.6205-10C>G) c.6322-10C>G (n.6322-10C>G) c.6208-10C>G (n.6208-10C>G) c.6271-10C>G (n.6271-10C>G) c.6319-10C>G (n.6319-10C>G) c.6301-10C>G (n.6301-10C>G) c.6229-10C>G (n.6229-10C>G) c.6256-10C>G (n.6256-10C>G) c.6259-10C>G (n.6259-10C>G) c.6298-10C>G (n.6298-10C>G) c.6268-10C>G (n.6268-10C>G) n.3090-10C>G c.6163-10C>G (n.6163-10C>G) c.6226-10C>G (n.6226-10C>G) c.6166-10C>G (n.6166-10C>G) c.6364-10C>G (n.6364-10C>G) c.6361-10C>G (n.6361-10C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71686444C>T | CA2659556533 | DYSF | c.3736-10C>T (n.3736-10C>T) c.2953-10C>T (n.2953-10C>T) c.3061-10C>T (n.3061-10C>T) c.6205-10C>T (n.6205-10C>T) c.6322-10C>T (n.6322-10C>T) c.6208-10C>T (n.6208-10C>T) c.6271-10C>T (n.6271-10C>T) c.6319-10C>T (n.6319-10C>T) c.6301-10C>T (n.6301-10C>T) c.6229-10C>T (n.6229-10C>T) c.6256-10C>T (n.6256-10C>T) c.6259-10C>T (n.6259-10C>T) c.6298-10C>T (n.6298-10C>T) c.6268-10C>T (n.6268-10C>T) n.3090-10C>T c.6163-10C>T (n.6163-10C>T) c.6226-10C>T (n.6226-10C>T) c.6166-10C>T (n.6166-10C>T) c.6364-10C>T (n.6364-10C>T) c.6361-10C>T (n.6361-10C>T) | ClinVar gnomAD v4 |
2 | g.71686446C= | CA1260160335 | DYSF | c.3736-8C= (n.3736-8C=) c.2953-8C= (n.2953-8C=) c.3061-8C= (n.3061-8C=) c.6205-8C= (n.6205-8C=) c.6322-8C= (n.6322-8C=) c.6208-8C= (n.6208-8C=) c.6271-8C= (n.6271-8C=) c.6319-8C= (n.6319-8C=) c.6301-8C= (n.6301-8C=) c.6229-8C= (n.6229-8C=) c.6256-8C= (n.6256-8C=) c.6259-8C= (n.6259-8C=) c.6298-8C= (n.6298-8C=) c.6268-8C= (n.6268-8C=) n.3090-8C= c.6163-8C= (n.6163-8C=) c.6226-8C= (n.6226-8C=) c.6166-8C= (n.6166-8C=) c.6364-8C= (n.6364-8C=) c.6361-8C= (n.6361-8C=) | |
2 | g.71686446C>T | CA1707689 | DYSF | c.3736-8C>T (n.3736-8C>T) c.2953-8C>T (n.2953-8C>T) c.3061-8C>T (n.3061-8C>T) c.6205-8C>T (n.6205-8C>T) c.6322-8C>T (n.6322-8C>T) c.6208-8C>T (n.6208-8C>T) c.6271-8C>T (n.6271-8C>T) c.6319-8C>T (n.6319-8C>T) c.6301-8C>T (n.6301-8C>T) c.6229-8C>T (n.6229-8C>T) c.6256-8C>T (n.6256-8C>T) c.6259-8C>T (n.6259-8C>T) c.6298-8C>T (n.6298-8C>T) c.6268-8C>T (n.6268-8C>T) n.3090-8C>T c.6163-8C>T (n.6163-8C>T) c.6226-8C>T (n.6226-8C>T) c.6166-8C>T (n.6166-8C>T) c.6364-8C>T (n.6364-8C>T) c.6361-8C>T (n.6361-8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71686447C= | CA1260160336 | DYSF | c.3736-7C= (n.3736-7C=) c.2953-7C= (n.2953-7C=) c.3061-7C= (n.3061-7C=) c.6205-7C= (n.6205-7C=) c.6322-7C= (n.6322-7C=) c.6208-7C= (n.6208-7C=) c.6271-7C= (n.6271-7C=) c.6319-7C= (n.6319-7C=) c.6301-7C= (n.6301-7C=) c.6229-7C= (n.6229-7C=) c.6256-7C= (n.6256-7C=) c.6259-7C= (n.6259-7C=) c.6298-7C= (n.6298-7C=) c.6268-7C= (n.6268-7C=) n.3090-7C= c.6163-7C= (n.6163-7C=) c.6226-7C= (n.6226-7C=) c.6166-7C= (n.6166-7C=) c.6364-7C= (n.6364-7C=) c.6361-7C= (n.6361-7C=) | |
2 | g.71686447C>T | CA1707690 | DYSF | c.3736-7C>T (n.3736-7C>T) c.2953-7C>T (n.2953-7C>T) c.3061-7C>T (n.3061-7C>T) c.6205-7C>T (n.6205-7C>T) c.6322-7C>T (n.6322-7C>T) c.6208-7C>T (n.6208-7C>T) c.6271-7C>T (n.6271-7C>T) c.6319-7C>T (n.6319-7C>T) c.6301-7C>T (n.6301-7C>T) c.6229-7C>T (n.6229-7C>T) c.6256-7C>T (n.6256-7C>T) c.6259-7C>T (n.6259-7C>T) c.6298-7C>T (n.6298-7C>T) c.6268-7C>T (n.6268-7C>T) n.3090-7C>T c.6163-7C>T (n.6163-7C>T) c.6226-7C>T (n.6226-7C>T) c.6166-7C>T (n.6166-7C>T) c.6364-7C>T (n.6364-7C>T) c.6361-7C>T (n.6361-7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71686448C>A | CA1707691 | DYSF | c.3736-6C>A (n.3736-6C>A) c.2953-6C>A (n.2953-6C>A) c.3061-6C>A (n.3061-6C>A) c.6205-6C>A (n.6205-6C>A) c.6322-6C>A (n.6322-6C>A) c.6208-6C>A (n.6208-6C>A) c.6271-6C>A (n.6271-6C>A) c.6319-6C>A (n.6319-6C>A) c.6301-6C>A (n.6301-6C>A) c.6229-6C>A (n.6229-6C>A) c.6256-6C>A (n.6256-6C>A) c.6259-6C>A (n.6259-6C>A) c.6298-6C>A (n.6298-6C>A) c.6268-6C>A (n.6268-6C>A) n.3090-6C>A c.6163-6C>A (n.6163-6C>A) c.6226-6C>A (n.6226-6C>A) c.6166-6C>A (n.6166-6C>A) c.6364-6C>A (n.6364-6C>A) c.6361-6C>A (n.6361-6C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71686448C= | CA1260160337 | DYSF | c.3736-6C= (n.3736-6C=) c.2953-6C= (n.2953-6C=) c.3061-6C= (n.3061-6C=) c.6205-6C= (n.6205-6C=) c.6322-6C= (n.6322-6C=) c.6208-6C= (n.6208-6C=) c.6271-6C= (n.6271-6C=) c.6319-6C= (n.6319-6C=) c.6301-6C= (n.6301-6C=) c.6229-6C= (n.6229-6C=) c.6256-6C= (n.6256-6C=) c.6259-6C= (n.6259-6C=) c.6298-6C= (n.6298-6C=) c.6268-6C= (n.6268-6C=) n.3090-6C= c.6163-6C= (n.6163-6C=) c.6226-6C= (n.6226-6C=) c.6166-6C= (n.6166-6C=) c.6364-6C= (n.6364-6C=) c.6361-6C= (n.6361-6C=) | |
2 | g.71686449T>C | CA2840635896 | DYSF | c.3736-5T>C (n.3736-5T>C) c.2953-5T>C (n.2953-5T>C) c.3061-5T>C (n.3061-5T>C) c.6205-5T>C (n.6205-5T>C) c.6322-5T>C (n.6322-5T>C) c.6208-5T>C (n.6208-5T>C) c.6271-5T>C (n.6271-5T>C) c.6319-5T>C (n.6319-5T>C) c.6301-5T>C (n.6301-5T>C) c.6229-5T>C (n.6229-5T>C) c.6256-5T>C (n.6256-5T>C) c.6259-5T>C (n.6259-5T>C) c.6298-5T>C (n.6298-5T>C) c.6268-5T>C (n.6268-5T>C) n.3090-5T>C c.6163-5T>C (n.6163-5T>C) c.6226-5T>C (n.6226-5T>C) c.6166-5T>C (n.6166-5T>C) c.6364-5T>C (n.6364-5T>C) c.6361-5T>C (n.6361-5T>C) | |
2 | g.71686450C= | CA1260160338 | DYSF | c.3736-4C= (n.3736-4C=) c.2953-4C= (n.2953-4C=) c.3061-4C= (n.3061-4C=) c.6205-4C= (n.6205-4C=) c.6322-4C= (n.6322-4C=) c.6208-4C= (n.6208-4C=) c.6271-4C= (n.6271-4C=) c.6319-4C= (n.6319-4C=) c.6301-4C= (n.6301-4C=) c.6229-4C= (n.6229-4C=) c.6256-4C= (n.6256-4C=) c.6259-4C= (n.6259-4C=) c.6298-4C= (n.6298-4C=) c.6268-4C= (n.6268-4C=) n.3090-4C= c.6163-4C= (n.6163-4C=) c.6226-4C= (n.6226-4C=) c.6166-4C= (n.6166-4C=) c.6364-4C= (n.6364-4C=) c.6361-4C= (n.6361-4C=) | |
2 | g.71686450C>T | CA1707692 | DYSF | c.3736-4C>T (n.3736-4C>T) c.2953-4C>T (n.2953-4C>T) c.3061-4C>T (n.3061-4C>T) c.6205-4C>T (n.6205-4C>T) c.6322-4C>T (n.6322-4C>T) c.6208-4C>T (n.6208-4C>T) c.6271-4C>T (n.6271-4C>T) c.6319-4C>T (n.6319-4C>T) c.6301-4C>T (n.6301-4C>T) c.6229-4C>T (n.6229-4C>T) c.6256-4C>T (n.6256-4C>T) c.6259-4C>T (n.6259-4C>T) c.6298-4C>T (n.6298-4C>T) c.6268-4C>T (n.6268-4C>T) n.3090-4C>T c.6163-4C>T (n.6163-4C>T) c.6226-4C>T (n.6226-4C>T) c.6166-4C>T (n.6166-4C>T) c.6364-4C>T (n.6364-4C>T) c.6361-4C>T (n.6361-4C>T) | ClinVar dbSNP ExAC gnomAD v4 |
2 | g.71686452A= | CA1260160339 | DYSF | c.3736-2A= (n.3736-2A=) c.2953-2A= (n.2953-2A=) c.3061-2A= (n.3061-2A=) c.6205-2A= (n.6205-2A=) c.6322-2A= (n.6322-2A=) c.6208-2A= (n.6208-2A=) c.6271-2A= (n.6271-2A=) c.6319-2A= (n.6319-2A=) c.6301-2A= (n.6301-2A=) c.6229-2A= (n.6229-2A=) c.6256-2A= (n.6256-2A=) c.6259-2A= (n.6259-2A=) c.6298-2A= (n.6298-2A=) c.6268-2A= (n.6268-2A=) n.3090-2A= c.6163-2A= (n.6163-2A=) c.6226-2A= (n.6226-2A=) c.6166-2A= (n.6166-2A=) c.6364-2A= (n.6364-2A=) c.6361-2A= (n.6361-2A=) | |
2 | g.71686452A>C | CA347227839 | DYSF | c.3736-2A>C (n.3736-2A>C) c.2953-2A>C (n.2953-2A>C) c.3061-2A>C (n.3061-2A>C) c.6205-2A>C (n.6205-2A>C) c.6322-2A>C (n.6322-2A>C) c.6208-2A>C (n.6208-2A>C) c.6271-2A>C (n.6271-2A>C) c.6319-2A>C (n.6319-2A>C) c.6301-2A>C (n.6301-2A>C) c.6229-2A>C (n.6229-2A>C) c.6256-2A>C (n.6256-2A>C) c.6259-2A>C (n.6259-2A>C) c.6298-2A>C (n.6298-2A>C) c.6268-2A>C (n.6268-2A>C) n.3090-2A>C c.6163-2A>C (n.6163-2A>C) c.6226-2A>C (n.6226-2A>C) c.6166-2A>C (n.6166-2A>C) c.6364-2A>C (n.6364-2A>C) c.6361-2A>C (n.6361-2A>C) | |
2 | g.71686452A>G | CA1707693 | DYSF | c.3736-2A>G (n.3736-2A>G) c.2953-2A>G (n.2953-2A>G) c.3061-2A>G (n.3061-2A>G) c.6205-2A>G (n.6205-2A>G) c.6322-2A>G (n.6322-2A>G) c.6208-2A>G (n.6208-2A>G) c.6271-2A>G (n.6271-2A>G) c.6319-2A>G (n.6319-2A>G) c.6301-2A>G (n.6301-2A>G) c.6229-2A>G (n.6229-2A>G) c.6256-2A>G (n.6256-2A>G) c.6259-2A>G (n.6259-2A>G) c.6298-2A>G (n.6298-2A>G) c.6268-2A>G (n.6268-2A>G) n.3090-2A>G c.6163-2A>G (n.6163-2A>G) c.6226-2A>G (n.6226-2A>G) c.6166-2A>G (n.6166-2A>G) c.6364-2A>G (n.6364-2A>G) c.6361-2A>G (n.6361-2A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71686452A>T | CA347227838 | DYSF | c.3736-2A>T (n.3736-2A>T) c.2953-2A>T (n.2953-2A>T) c.3061-2A>T (n.3061-2A>T) c.6205-2A>T (n.6205-2A>T) c.6322-2A>T (n.6322-2A>T) c.6208-2A>T (n.6208-2A>T) c.6271-2A>T (n.6271-2A>T) c.6319-2A>T (n.6319-2A>T) c.6301-2A>T (n.6301-2A>T) c.6229-2A>T (n.6229-2A>T) c.6256-2A>T (n.6256-2A>T) c.6259-2A>T (n.6259-2A>T) c.6298-2A>T (n.6298-2A>T) c.6268-2A>T (n.6268-2A>T) n.3090-2A>T c.6163-2A>T (n.6163-2A>T) c.6226-2A>T (n.6226-2A>T) c.6166-2A>T (n.6166-2A>T) c.6364-2A>T (n.6364-2A>T) c.6361-2A>T (n.6361-2A>T) | |
2 | g.71686453G>A | CA347227840 | DYSF | c.3736-1G>A (n.3736-1G>A) c.2953-1G>A (n.2953-1G>A) c.3061-1G>A (n.3061-1G>A) c.6205-1G>A (n.6205-1G>A) c.6322-1G>A (n.6322-1G>A) c.6208-1G>A (n.6208-1G>A) c.6271-1G>A (n.6271-1G>A) c.6319-1G>A (n.6319-1G>A) c.6301-1G>A (n.6301-1G>A) c.6229-1G>A (n.6229-1G>A) c.6256-1G>A (n.6256-1G>A) c.6259-1G>A (n.6259-1G>A) c.6298-1G>A (n.6298-1G>A) c.6268-1G>A (n.6268-1G>A) n.3090-1G>A c.6163-1G>A (n.6163-1G>A) c.6226-1G>A (n.6226-1G>A) c.6166-1G>A (n.6166-1G>A) c.6364-1G>A (n.6364-1G>A) c.6361-1G>A (n.6361-1G>A) | |
2 | g.71686453G>C | CA347227841 | DYSF | c.3736-1G>C (n.3736-1G>C) c.2953-1G>C (n.2953-1G>C) c.3061-1G>C (n.3061-1G>C) c.6205-1G>C (n.6205-1G>C) c.6322-1G>C (n.6322-1G>C) c.6208-1G>C (n.6208-1G>C) c.6271-1G>C (n.6271-1G>C) c.6319-1G>C (n.6319-1G>C) c.6301-1G>C (n.6301-1G>C) c.6229-1G>C (n.6229-1G>C) c.6256-1G>C (n.6256-1G>C) c.6259-1G>C (n.6259-1G>C) c.6298-1G>C (n.6298-1G>C) c.6268-1G>C (n.6268-1G>C) n.3090-1G>C c.6163-1G>C (n.6163-1G>C) c.6226-1G>C (n.6226-1G>C) c.6166-1G>C (n.6166-1G>C) c.6364-1G>C (n.6364-1G>C) c.6361-1G>C (n.6361-1G>C) | |
2 | g.71686453G>T | CA347227842 | DYSF | c.3736-1G>T (n.3736-1G>T) c.2953-1G>T (n.2953-1G>T) c.3061-1G>T (n.3061-1G>T) c.6205-1G>T (n.6205-1G>T) c.6322-1G>T (n.6322-1G>T) c.6208-1G>T (n.6208-1G>T) c.6271-1G>T (n.6271-1G>T) c.6319-1G>T (n.6319-1G>T) c.6301-1G>T (n.6301-1G>T) c.6229-1G>T (n.6229-1G>T) c.6256-1G>T (n.6256-1G>T) c.6259-1G>T (n.6259-1G>T) c.6298-1G>T (n.6298-1G>T) c.6268-1G>T (n.6268-1G>T) n.3090-1G>T c.6163-1G>T (n.6163-1G>T) c.6226-1G>T (n.6226-1G>T) c.6166-1G>T (n.6166-1G>T) c.6364-1G>T (n.6364-1G>T) c.6361-1G>T (n.6361-1G>T) | |
2 | g.71686454A>C | CA347227843 | DYSF | c.3736A>C (p.Asn1246His) c.2953A>C (p.Asn985His) c.3061A>C (p.Asn1021His) c.6205A>C (p.Asn2069His) c.6322A>C (p.Asn2108His) c.6208A>C (p.Asn2070His) c.6271A>C (p.Asn2091His) c.6319A>C (p.Asn2107His) c.6301A>C (p.Asn2101His) c.6229A>C (p.Asn2077His) c.6256A>C (p.Asn2086His) c.6259A>C (p.Asn2087His) c.6298A>C (p.Asn2100His) c.6268A>C (p.Asn2090His) n.3090A>C c.6163A>C (p.Asn2055His) c.6226A>C (p.Asn2076His) c.6166A>C (p.Asn2056His) c.6364A>C (p.Asn2122His) c.6361A>C (p.Asn2121His) | |
2 | g.71686454A>G | CA347227844 | DYSF | c.3736A>G (p.Asn1246Asp) c.2953A>G (p.Asn985Asp) c.3061A>G (p.Asn1021Asp) c.6205A>G (p.Asn2069Asp) c.6322A>G (p.Asn2108Asp) c.6208A>G (p.Asn2070Asp) c.6271A>G (p.Asn2091Asp) c.6319A>G (p.Asn2107Asp) c.6301A>G (p.Asn2101Asp) c.6229A>G (p.Asn2077Asp) c.6256A>G (p.Asn2086Asp) c.6259A>G (p.Asn2087Asp) c.6298A>G (p.Asn2100Asp) c.6268A>G (p.Asn2090Asp) n.3090A>G c.6163A>G (p.Asn2055Asp) c.6226A>G (p.Asn2076Asp) c.6166A>G (p.Asn2056Asp) c.6364A>G (p.Asn2122Asp) c.6361A>G (p.Asn2121Asp) | |
2 | g.71686454A>T | CA347227845 | DYSF | c.3736A>T (p.Asn1246Tyr) c.2953A>T (p.Asn985Tyr) c.3061A>T (p.Asn1021Tyr) c.6205A>T (p.Asn2069Tyr) c.6322A>T (p.Asn2108Tyr) c.6208A>T (p.Asn2070Tyr) c.6271A>T (p.Asn2091Tyr) c.6319A>T (p.Asn2107Tyr) c.6301A>T (p.Asn2101Tyr) c.6229A>T (p.Asn2077Tyr) c.6256A>T (p.Asn2086Tyr) c.6259A>T (p.Asn2087Tyr) c.6298A>T (p.Asn2100Tyr) c.6268A>T (p.Asn2090Tyr) n.3090A>T c.6163A>T (p.Asn2055Tyr) c.6226A>T (p.Asn2076Tyr) c.6166A>T (p.Asn2056Tyr) c.6364A>T (p.Asn2122Tyr) c.6361A>T (p.Asn2121Tyr) | |
2 | g.71686455A= | CA1260160340 | DYSF | c.3737A= (p.Asn1246=) c.2954A= (p.Asn985=) c.3062A= (p.Asn1021=) c.6206A= (p.Asn2069=) c.6323A= (p.Asn2108=) c.6209A= (p.Asn2070=) c.6272A= (p.Asn2091=) c.6320A= (p.Asn2107=) c.6302A= (p.Asn2101=) c.6230A= (p.Asn2077=) c.6257A= (p.Asn2086=) c.6260A= (p.Asn2087=) c.6299A= (p.Asn2100=) c.6269A= (p.Asn2090=) n.3091A= c.6164A= (p.Asn2055=) c.6227A= (p.Asn2076=) c.6167A= (p.Asn2056=) c.6365A= (p.Asn2122=) c.6362A= (p.Asn2121=) | |
2 | g.71686455A>C | CA347227846 | DYSF | c.3737A>C (p.Asn1246Thr) c.2954A>C (p.Asn985Thr) c.3062A>C (p.Asn1021Thr) c.6206A>C (p.Asn2069Thr) c.6323A>C (p.Asn2108Thr) c.6209A>C (p.Asn2070Thr) c.6272A>C (p.Asn2091Thr) c.6320A>C (p.Asn2107Thr) c.6302A>C (p.Asn2101Thr) c.6230A>C (p.Asn2077Thr) c.6257A>C (p.Asn2086Thr) c.6260A>C (p.Asn2087Thr) c.6299A>C (p.Asn2100Thr) c.6269A>C (p.Asn2090Thr) n.3091A>C c.6164A>C (p.Asn2055Thr) c.6227A>C (p.Asn2076Thr) c.6167A>C (p.Asn2056Thr) c.6365A>C (p.Asn2122Thr) c.6362A>C (p.Asn2121Thr) | dbSNP |
2 | g.71686455A>G | CA347227847 | DYSF | c.3737A>G (p.Asn1246Ser) c.2954A>G (p.Asn985Ser) c.3062A>G (p.Asn1021Ser) c.6206A>G (p.Asn2069Ser) c.6323A>G (p.Asn2108Ser) c.6209A>G (p.Asn2070Ser) c.6272A>G (p.Asn2091Ser) c.6320A>G (p.Asn2107Ser) c.6302A>G (p.Asn2101Ser) c.6230A>G (p.Asn2077Ser) c.6257A>G (p.Asn2086Ser) c.6260A>G (p.Asn2087Ser) c.6299A>G (p.Asn2100Ser) c.6269A>G (p.Asn2090Ser) n.3091A>G c.6164A>G (p.Asn2055Ser) c.6227A>G (p.Asn2076Ser) c.6167A>G (p.Asn2056Ser) c.6365A>G (p.Asn2122Ser) c.6362A>G (p.Asn2121Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71686455A>T | CA347227848 | DYSF | c.3737A>T (p.Asn1246Ile) c.2954A>T (p.Asn985Ile) c.3062A>T (p.Asn1021Ile) c.6206A>T (p.Asn2069Ile) c.6323A>T (p.Asn2108Ile) c.6209A>T (p.Asn2070Ile) c.6272A>T (p.Asn2091Ile) c.6320A>T (p.Asn2107Ile) c.6302A>T (p.Asn2101Ile) c.6230A>T (p.Asn2077Ile) c.6257A>T (p.Asn2086Ile) c.6260A>T (p.Asn2087Ile) c.6299A>T (p.Asn2100Ile) c.6269A>T (p.Asn2090Ile) n.3091A>T c.6164A>T (p.Asn2055Ile) c.6227A>T (p.Asn2076Ile) c.6167A>T (p.Asn2056Ile) c.6365A>T (p.Asn2122Ile) c.6362A>T (p.Asn2121Ile) | |
2 | g.71686456del | CA2586969383 | DYSF | c.3738del (p.Tyr1247MetfsTer4) c.2955del (p.Tyr986MetfsTer4) c.3063del (p.Tyr1022MetfsTer4) c.6207del (p.Tyr2070MetfsTer4) c.6324del (p.Tyr2109MetfsTer4) c.6210del (p.Tyr2071MetfsTer4) c.6273del (p.Tyr2092MetfsTer4) c.6321del (p.Tyr2108MetfsTer4) c.6303del (p.Tyr2102MetfsTer4) c.6231del (p.Tyr2078MetfsTer4) c.6258del (p.Tyr2087MetfsTer4) c.6261del (p.Tyr2088MetfsTer4) c.6300del (p.Tyr2101MetfsTer4) c.6270del (p.Tyr2091MetfsTer4) n.3092del c.6165del (p.Tyr2056MetfsTer4) c.6228del (p.Tyr2077MetfsTer4) c.6168del (p.Tyr2057MetfsTer4) c.6366del (p.Tyr2123MetfsTer4) c.6363del (p.Tyr2122MetfsTer4) | gnomAD v4 |
2 | g.71686456C>A | CA347227849 | DYSF | c.3738C>A (p.Asn1246Lys) c.2955C>A (p.Asn985Lys) c.3063C>A (p.Asn1021Lys) c.6207C>A (p.Asn2069Lys) c.6324C>A (p.Asn2108Lys) c.6210C>A (p.Asn2070Lys) c.6273C>A (p.Asn2091Lys) c.6321C>A (p.Asn2107Lys) c.6303C>A (p.Asn2101Lys) c.6231C>A (p.Asn2077Lys) c.6258C>A (p.Asn2086Lys) c.6261C>A (p.Asn2087Lys) c.6300C>A (p.Asn2100Lys) c.6270C>A (p.Asn2090Lys) n.3092C>A c.6165C>A (p.Asn2055Lys) c.6228C>A (p.Asn2076Lys) c.6168C>A (p.Asn2056Lys) c.6366C>A (p.Asn2122Lys) c.6363C>A (p.Asn2121Lys) | |
2 | g.71686456C= | CA1260160341 | DYSF | c.3738C= (p.Asn1246=) c.2955C= (p.Asn985=) c.3063C= (p.Asn1021=) c.6207C= (p.Asn2069=) c.6324C= (p.Asn2108=) c.6210C= (p.Asn2070=) c.6273C= (p.Asn2091=) c.6321C= (p.Asn2107=) c.6303C= (p.Asn2101=) c.6231C= (p.Asn2077=) c.6258C= (p.Asn2086=) c.6261C= (p.Asn2087=) c.6300C= (p.Asn2100=) c.6270C= (p.Asn2090=) n.3092C= c.6165C= (p.Asn2055=) c.6228C= (p.Asn2076=) c.6168C= (p.Asn2056=) c.6366C= (p.Asn2122=) c.6363C= (p.Asn2121=) | |
2 | g.71686456C>G | CA347227850 | DYSF | c.3738C>G (p.Asn1246Lys) c.2955C>G (p.Asn985Lys) c.3063C>G (p.Asn1021Lys) c.6207C>G (p.Asn2069Lys) c.6324C>G (p.Asn2108Lys) c.6210C>G (p.Asn2070Lys) c.6273C>G (p.Asn2091Lys) c.6321C>G (p.Asn2107Lys) c.6303C>G (p.Asn2101Lys) c.6231C>G (p.Asn2077Lys) c.6258C>G (p.Asn2086Lys) c.6261C>G (p.Asn2087Lys) c.6300C>G (p.Asn2100Lys) c.6270C>G (p.Asn2090Lys) n.3092C>G c.6165C>G (p.Asn2055Lys) c.6228C>G (p.Asn2076Lys) c.6168C>G (p.Asn2056Lys) c.6366C>G (p.Asn2122Lys) c.6363C>G (p.Asn2121Lys) | |
2 | g.71686456C>T | CA426705035 | DYSF | c.3738C>T (p.Asn1246=) c.2955C>T (p.Asn985=) c.3063C>T (p.Asn1021=) c.6207C>T (p.Asn2069=) c.6324C>T (p.Asn2108=) c.6210C>T (p.Asn2070=) c.6273C>T (p.Asn2091=) c.6321C>T (p.Asn2107=) c.6303C>T (p.Asn2101=) c.6231C>T (p.Asn2077=) c.6258C>T (p.Asn2086=) c.6261C>T (p.Asn2087=) c.6300C>T (p.Asn2100=) c.6270C>T (p.Asn2090=) n.3092C>T c.6165C>T (p.Asn2055=) c.6228C>T (p.Asn2076=) c.6168C>T (p.Asn2056=) c.6366C>T (p.Asn2122=) c.6363C>T (p.Asn2121=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71686457T>A | CA347227852 | DYSF | c.3739T>A (p.Tyr1247Asn) c.2956T>A (p.Tyr986Asn) c.3064T>A (p.Tyr1022Asn) c.6208T>A (p.Tyr2070Asn) c.6325T>A (p.Tyr2109Asn) c.6211T>A (p.Tyr2071Asn) c.6274T>A (p.Tyr2092Asn) c.6322T>A (p.Tyr2108Asn) c.6304T>A (p.Tyr2102Asn) c.6232T>A (p.Tyr2078Asn) c.6259T>A (p.Tyr2087Asn) c.6262T>A (p.Tyr2088Asn) c.6301T>A (p.Tyr2101Asn) c.6271T>A (p.Tyr2091Asn) n.3093T>A c.6166T>A (p.Tyr2056Asn) c.6229T>A (p.Tyr2077Asn) c.6169T>A (p.Tyr2057Asn) c.6367T>A (p.Tyr2123Asn) c.6364T>A (p.Tyr2122Asn) | |
2 | g.71686457T>C | CA347227853 | DYSF | c.3739T>C (p.Tyr1247His) c.2956T>C (p.Tyr986His) c.3064T>C (p.Tyr1022His) c.6208T>C (p.Tyr2070His) c.6325T>C (p.Tyr2109His) c.6211T>C (p.Tyr2071His) c.6274T>C (p.Tyr2092His) c.6322T>C (p.Tyr2108His) c.6304T>C (p.Tyr2102His) c.6232T>C (p.Tyr2078His) c.6259T>C (p.Tyr2087His) c.6262T>C (p.Tyr2088His) c.6301T>C (p.Tyr2101His) c.6271T>C (p.Tyr2091His) n.3093T>C c.6166T>C (p.Tyr2056His) c.6229T>C (p.Tyr2077His) c.6169T>C (p.Tyr2057His) c.6367T>C (p.Tyr2123His) c.6364T>C (p.Tyr2122His) | |
2 | g.71686457T>G | CA347227851 | DYSF | c.3739T>G (p.Tyr1247Asp) c.2956T>G (p.Tyr986Asp) c.3064T>G (p.Tyr1022Asp) c.6208T>G (p.Tyr2070Asp) c.6325T>G (p.Tyr2109Asp) c.6211T>G (p.Tyr2071Asp) c.6274T>G (p.Tyr2092Asp) c.6322T>G (p.Tyr2108Asp) c.6304T>G (p.Tyr2102Asp) c.6232T>G (p.Tyr2078Asp) c.6259T>G (p.Tyr2087Asp) c.6262T>G (p.Tyr2088Asp) c.6301T>G (p.Tyr2101Asp) c.6271T>G (p.Tyr2091Asp) n.3093T>G c.6166T>G (p.Tyr2056Asp) c.6229T>G (p.Tyr2077Asp) c.6169T>G (p.Tyr2057Asp) c.6367T>G (p.Tyr2123Asp) c.6364T>G (p.Tyr2122Asp) | |
2 | g.71686458A= | CA1260160342 | DYSF | c.3740A= (p.Tyr1247=) c.2957A= (p.Tyr986=) c.3065A= (p.Tyr1022=) c.6209A= (p.Tyr2070=) c.6326A= (p.Tyr2109=) c.6212A= (p.Tyr2071=) c.6275A= (p.Tyr2092=) c.6323A= (p.Tyr2108=) c.6305A= (p.Tyr2102=) c.6233A= (p.Tyr2078=) c.6260A= (p.Tyr2087=) c.6263A= (p.Tyr2088=) c.6302A= (p.Tyr2101=) c.6272A= (p.Tyr2091=) n.3094A= c.6167A= (p.Tyr2056=) c.6230A= (p.Tyr2077=) c.6170A= (p.Tyr2057=) c.6368A= (p.Tyr2123=) c.6365A= (p.Tyr2122=) | |
2 | g.71686458A>C | CA347227854 | DYSF | c.3740A>C (p.Tyr1247Ser) c.2957A>C (p.Tyr986Ser) c.3065A>C (p.Tyr1022Ser) c.6209A>C (p.Tyr2070Ser) c.6326A>C (p.Tyr2109Ser) c.6212A>C (p.Tyr2071Ser) c.6275A>C (p.Tyr2092Ser) c.6323A>C (p.Tyr2108Ser) c.6305A>C (p.Tyr2102Ser) c.6233A>C (p.Tyr2078Ser) c.6260A>C (p.Tyr2087Ser) c.6263A>C (p.Tyr2088Ser) c.6302A>C (p.Tyr2101Ser) c.6272A>C (p.Tyr2091Ser) n.3094A>C c.6167A>C (p.Tyr2056Ser) c.6230A>C (p.Tyr2077Ser) c.6170A>C (p.Tyr2057Ser) c.6368A>C (p.Tyr2123Ser) c.6365A>C (p.Tyr2122Ser) | |
2 | g.71686458A>G | CA1707694 | DYSF | c.3740A>G (p.Tyr1247Cys) c.2957A>G (p.Tyr986Cys) c.3065A>G (p.Tyr1022Cys) c.6209A>G (p.Tyr2070Cys) c.6326A>G (p.Tyr2109Cys) c.6212A>G (p.Tyr2071Cys) c.6275A>G (p.Tyr2092Cys) c.6323A>G (p.Tyr2108Cys) c.6305A>G (p.Tyr2102Cys) c.6233A>G (p.Tyr2078Cys) c.6260A>G (p.Tyr2087Cys) c.6263A>G (p.Tyr2088Cys) c.6302A>G (p.Tyr2101Cys) c.6272A>G (p.Tyr2091Cys) n.3094A>G c.6167A>G (p.Tyr2056Cys) c.6230A>G (p.Tyr2077Cys) c.6170A>G (p.Tyr2057Cys) c.6368A>G (p.Tyr2123Cys) c.6365A>G (p.Tyr2122Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71686458A>T | CA347227855 | DYSF | c.3740A>T (p.Tyr1247Phe) c.2957A>T (p.Tyr986Phe) c.3065A>T (p.Tyr1022Phe) c.6209A>T (p.Tyr2070Phe) c.6326A>T (p.Tyr2109Phe) c.6212A>T (p.Tyr2071Phe) c.6275A>T (p.Tyr2092Phe) c.6323A>T (p.Tyr2108Phe) c.6305A>T (p.Tyr2102Phe) c.6233A>T (p.Tyr2078Phe) c.6260A>T (p.Tyr2087Phe) c.6263A>T (p.Tyr2088Phe) c.6302A>T (p.Tyr2101Phe) c.6272A>T (p.Tyr2091Phe) n.3094A>T c.6167A>T (p.Tyr2056Phe) c.6230A>T (p.Tyr2077Phe) c.6170A>T (p.Tyr2057Phe) c.6368A>T (p.Tyr2123Phe) c.6365A>T (p.Tyr2122Phe) | |
2 | g.71686459T>A | CA347227856 | DYSF | c.3741T>A (p.Tyr1247Ter) c.2958T>A (p.Tyr986Ter) c.3066T>A (p.Tyr1022Ter) c.6210T>A (p.Tyr2070Ter) c.6327T>A (p.Tyr2109Ter) c.6213T>A (p.Tyr2071Ter) c.6276T>A (p.Tyr2092Ter) c.6324T>A (p.Tyr2108Ter) c.6306T>A (p.Tyr2102Ter) c.6234T>A (p.Tyr2078Ter) c.6261T>A (p.Tyr2087Ter) c.6264T>A (p.Tyr2088Ter) c.6303T>A (p.Tyr2101Ter) c.6273T>A (p.Tyr2091Ter) n.3095T>A c.6168T>A (p.Tyr2056Ter) c.6231T>A (p.Tyr2077Ter) c.6171T>A (p.Tyr2057Ter) c.6369T>A (p.Tyr2123Ter) c.6366T>A (p.Tyr2122Ter) | |
2 | g.71686459T>C | CA426705036 | DYSF | c.3741T>C (p.Tyr1247=) c.2958T>C (p.Tyr986=) c.3066T>C (p.Tyr1022=) c.6210T>C (p.Tyr2070=) c.6327T>C (p.Tyr2109=) c.6213T>C (p.Tyr2071=) c.6276T>C (p.Tyr2092=) c.6324T>C (p.Tyr2108=) c.6306T>C (p.Tyr2102=) c.6234T>C (p.Tyr2078=) c.6261T>C (p.Tyr2087=) c.6264T>C (p.Tyr2088=) c.6303T>C (p.Tyr2101=) c.6273T>C (p.Tyr2091=) n.3095T>C c.6168T>C (p.Tyr2056=) c.6231T>C (p.Tyr2077=) c.6171T>C (p.Tyr2057=) c.6369T>C (p.Tyr2123=) c.6366T>C (p.Tyr2122=) | dbSNP gnomAD v4 |
2 | g.71686459T>G | CA347227857 | DYSF | c.3741T>G (p.Tyr1247Ter) c.2958T>G (p.Tyr986Ter) c.3066T>G (p.Tyr1022Ter) c.6210T>G (p.Tyr2070Ter) c.6327T>G (p.Tyr2109Ter) c.6213T>G (p.Tyr2071Ter) c.6276T>G (p.Tyr2092Ter) c.6324T>G (p.Tyr2108Ter) c.6306T>G (p.Tyr2102Ter) c.6234T>G (p.Tyr2078Ter) c.6261T>G (p.Tyr2087Ter) c.6264T>G (p.Tyr2088Ter) c.6303T>G (p.Tyr2101Ter) c.6273T>G (p.Tyr2091Ter) n.3095T>G c.6168T>G (p.Tyr2056Ter) c.6231T>G (p.Tyr2077Ter) c.6171T>G (p.Tyr2057Ter) c.6369T>G (p.Tyr2123Ter) c.6366T>G (p.Tyr2122Ter) | |
2 | g.71686459T= | CA1260160343 | DYSF | c.3741T= (p.Tyr1247=) c.2958T= (p.Tyr986=) c.3066T= (p.Tyr1022=) c.6210T= (p.Tyr2070=) c.6327T= (p.Tyr2109=) c.6213T= (p.Tyr2071=) c.6276T= (p.Tyr2092=) c.6324T= (p.Tyr2108=) c.6306T= (p.Tyr2102=) c.6234T= (p.Tyr2078=) c.6261T= (p.Tyr2087=) c.6264T= (p.Tyr2088=) c.6303T= (p.Tyr2101=) c.6273T= (p.Tyr2091=) n.3095T= c.6168T= (p.Tyr2056=) c.6231T= (p.Tyr2077=) c.6171T= (p.Tyr2057=) c.6369T= (p.Tyr2123=) c.6366T= (p.Tyr2122=) | |
2 | g.71686460G>A | CA347227858 | DYSF | c.3742G>A (p.Ala1248Thr) c.2959G>A (p.Ala987Thr) c.3067G>A (p.Ala1023Thr) c.6211G>A (p.Ala2071Thr) c.6328G>A (p.Ala2110Thr) c.6214G>A (p.Ala2072Thr) c.6277G>A (p.Ala2093Thr) c.6325G>A (p.Ala2109Thr) c.6307G>A (p.Ala2103Thr) c.6235G>A (p.Ala2079Thr) c.6262G>A (p.Ala2088Thr) c.6265G>A (p.Ala2089Thr) c.6304G>A (p.Ala2102Thr) c.6274G>A (p.Ala2092Thr) n.3096G>A c.6169G>A (p.Ala2057Thr) c.6232G>A (p.Ala2078Thr) c.6172G>A (p.Ala2058Thr) c.6370G>A (p.Ala2124Thr) c.6367G>A (p.Ala2123Thr) | |
2 | g.71686460G>C | CA347227859 | DYSF | c.3742G>C (p.Ala1248Pro) c.2959G>C (p.Ala987Pro) c.3067G>C (p.Ala1023Pro) c.6211G>C (p.Ala2071Pro) c.6328G>C (p.Ala2110Pro) c.6214G>C (p.Ala2072Pro) c.6277G>C (p.Ala2093Pro) c.6325G>C (p.Ala2109Pro) c.6307G>C (p.Ala2103Pro) c.6235G>C (p.Ala2079Pro) c.6262G>C (p.Ala2088Pro) c.6265G>C (p.Ala2089Pro) c.6304G>C (p.Ala2102Pro) c.6274G>C (p.Ala2092Pro) n.3096G>C c.6169G>C (p.Ala2057Pro) c.6232G>C (p.Ala2078Pro) c.6172G>C (p.Ala2058Pro) c.6370G>C (p.Ala2124Pro) c.6367G>C (p.Ala2123Pro) | |
2 | g.71686460G>T | CA347227860 | DYSF | c.3742G>T (p.Ala1248Ser) c.2959G>T (p.Ala987Ser) c.3067G>T (p.Ala1023Ser) c.6211G>T (p.Ala2071Ser) c.6328G>T (p.Ala2110Ser) c.6214G>T (p.Ala2072Ser) c.6277G>T (p.Ala2093Ser) c.6325G>T (p.Ala2109Ser) c.6307G>T (p.Ala2103Ser) c.6235G>T (p.Ala2079Ser) c.6262G>T (p.Ala2088Ser) c.6265G>T (p.Ala2089Ser) c.6304G>T (p.Ala2102Ser) c.6274G>T (p.Ala2092Ser) n.3096G>T c.6169G>T (p.Ala2057Ser) c.6232G>T (p.Ala2078Ser) c.6172G>T (p.Ala2058Ser) c.6370G>T (p.Ala2124Ser) c.6367G>T (p.Ala2123Ser) | |
2 | g.71686460_71686461delinsGC | CA1260160344 | DYSF | c.3742_3743delinsGC (p.Ala1248=) c.2959_2960delinsGC (p.Ala987=) c.3067_3068delinsGC (p.Ala1023=) c.6211_6212delinsGC (p.Ala2071=) c.6328_6329delinsGC (p.Ala2110=) c.6214_6215delinsGC (p.Ala2072=) c.6277_6278delinsGC (p.Ala2093=) c.6325_6326delinsGC (p.Ala2109=) c.6307_6308delinsGC (p.Ala2103=) c.6235_6236delinsGC (p.Ala2079=) c.6262_6263delinsGC (p.Ala2088=) c.6265_6266delinsGC (p.Ala2089=) c.6304_6305delinsGC (p.Ala2102=) c.6274_6275delinsGC (p.Ala2092=) n.3096_3097delinsGC c.6169_6170delinsGC (p.Ala2057=) c.6232_6233delinsGC (p.Ala2078=) c.6172_6173delinsGC (p.Ala2058=) c.6370_6371delinsGC (p.Ala2124=) c.6367_6368delinsGC (p.Ala2123=) | |
2 | g.71686461del | CA10604963 | DYSF | c.3743del (p.Ala1248ValfsTer3) c.2960del (p.Ala987ValfsTer3) c.3068del (p.Ala1023ValfsTer3) c.6212del (p.Ala2071ValfsTer3) c.6329del (p.Ala2110ValfsTer3) c.6215del (p.Ala2072ValfsTer3) c.6278del (p.Ala2093ValfsTer3) c.6326del (p.Ala2109ValfsTer3) c.6308del (p.Ala2103ValfsTer3) c.6236del (p.Ala2079ValfsTer3) c.6263del (p.Ala2088ValfsTer3) c.6266del (p.Ala2089ValfsTer3) c.6305del (p.Ala2102ValfsTer3) c.6275del (p.Ala2092ValfsTer3) n.3097del c.6170del (p.Ala2057ValfsTer3) c.6233del (p.Ala2078ValfsTer3) c.6173del (p.Ala2058ValfsTer3) c.6371del (p.Ala2124ValfsTer3) c.6368del (p.Ala2123ValfsTer3) | ClinVar dbSNP |
2 | g.71686461C>A | CA347227861 | DYSF | c.3743C>A (p.Ala1248Asp) c.2960C>A (p.Ala987Asp) c.3068C>A (p.Ala1023Asp) c.6212C>A (p.Ala2071Asp) c.6329C>A (p.Ala2110Asp) c.6215C>A (p.Ala2072Asp) c.6278C>A (p.Ala2093Asp) c.6326C>A (p.Ala2109Asp) c.6308C>A (p.Ala2103Asp) c.6236C>A (p.Ala2079Asp) c.6263C>A (p.Ala2088Asp) c.6266C>A (p.Ala2089Asp) c.6305C>A (p.Ala2102Asp) c.6275C>A (p.Ala2092Asp) n.3097C>A c.6170C>A (p.Ala2057Asp) c.6233C>A (p.Ala2078Asp) c.6173C>A (p.Ala2058Asp) c.6371C>A (p.Ala2124Asp) c.6368C>A (p.Ala2123Asp) | |
2 | g.71686461C= | CA1260160345 | DYSF | c.3743C= (p.Ala1248=) c.2960C= (p.Ala987=) c.3068C= (p.Ala1023=) c.6212C= (p.Ala2071=) c.6329C= (p.Ala2110=) c.6215C= (p.Ala2072=) c.6278C= (p.Ala2093=) c.6326C= (p.Ala2109=) c.6308C= (p.Ala2103=) c.6236C= (p.Ala2079=) c.6263C= (p.Ala2088=) c.6266C= (p.Ala2089=) c.6305C= (p.Ala2102=) c.6275C= (p.Ala2092=) n.3097C= c.6170C= (p.Ala2057=) c.6233C= (p.Ala2078=) c.6173C= (p.Ala2058=) c.6371C= (p.Ala2124=) c.6368C= (p.Ala2123=) | |
2 | g.71686461C>G | CA347227862 | DYSF | c.3743C>G (p.Ala1248Gly) c.2960C>G (p.Ala987Gly) c.3068C>G (p.Ala1023Gly) c.6212C>G (p.Ala2071Gly) c.6329C>G (p.Ala2110Gly) c.6215C>G (p.Ala2072Gly) c.6278C>G (p.Ala2093Gly) c.6326C>G (p.Ala2109Gly) c.6308C>G (p.Ala2103Gly) c.6236C>G (p.Ala2079Gly) c.6263C>G (p.Ala2088Gly) c.6266C>G (p.Ala2089Gly) c.6305C>G (p.Ala2102Gly) c.6275C>G (p.Ala2092Gly) n.3097C>G c.6170C>G (p.Ala2057Gly) c.6233C>G (p.Ala2078Gly) c.6173C>G (p.Ala2058Gly) c.6371C>G (p.Ala2124Gly) c.6368C>G (p.Ala2123Gly) | |
2 | g.71686461C>T | CA1707695 | DYSF | c.3743C>T (p.Ala1248Val) c.2960C>T (p.Ala987Val) c.3068C>T (p.Ala1023Val) c.6212C>T (p.Ala2071Val) c.6329C>T (p.Ala2110Val) c.6215C>T (p.Ala2072Val) c.6278C>T (p.Ala2093Val) c.6326C>T (p.Ala2109Val) c.6308C>T (p.Ala2103Val) c.6236C>T (p.Ala2079Val) c.6263C>T (p.Ala2088Val) c.6266C>T (p.Ala2089Val) c.6305C>T (p.Ala2102Val) c.6275C>T (p.Ala2092Val) n.3097C>T c.6170C>T (p.Ala2057Val) c.6233C>T (p.Ala2078Val) c.6173C>T (p.Ala2058Val) c.6371C>T (p.Ala2124Val) c.6368C>T (p.Ala2123Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71686462T>A | CA426705038 | DYSF | c.3744T>A (p.Ala1248=) c.2961T>A (p.Ala987=) c.3069T>A (p.Ala1023=) c.6213T>A (p.Ala2071=) c.6330T>A (p.Ala2110=) c.6216T>A (p.Ala2072=) c.6279T>A (p.Ala2093=) c.6327T>A (p.Ala2109=) c.6309T>A (p.Ala2103=) c.6237T>A (p.Ala2079=) c.6264T>A (p.Ala2088=) c.6267T>A (p.Ala2089=) c.6306T>A (p.Ala2102=) c.6276T>A (p.Ala2092=) n.3098T>A c.6171T>A (p.Ala2057=) c.6234T>A (p.Ala2078=) c.6174T>A (p.Ala2058=) c.6372T>A (p.Ala2124=) c.6369T>A (p.Ala2123=) | |
2 | g.71686462T>C | CA426705037 | DYSF | c.3744T>C (p.Ala1248=) c.2961T>C (p.Ala987=) c.3069T>C (p.Ala1023=) c.6213T>C (p.Ala2071=) c.6330T>C (p.Ala2110=) c.6216T>C (p.Ala2072=) c.6279T>C (p.Ala2093=) c.6327T>C (p.Ala2109=) c.6309T>C (p.Ala2103=) c.6237T>C (p.Ala2079=) c.6264T>C (p.Ala2088=) c.6267T>C (p.Ala2089=) c.6306T>C (p.Ala2102=) c.6276T>C (p.Ala2092=) n.3098T>C c.6171T>C (p.Ala2057=) c.6234T>C (p.Ala2078=) c.6174T>C (p.Ala2058=) c.6372T>C (p.Ala2124=) c.6369T>C (p.Ala2123=) | ClinVar dbSNP gnomAD v4 |
2 | g.71686462T>G | CA426705039 | DYSF | c.3744T>G (p.Ala1248=) c.2961T>G (p.Ala987=) c.3069T>G (p.Ala1023=) c.6213T>G (p.Ala2071=) c.6330T>G (p.Ala2110=) c.6216T>G (p.Ala2072=) c.6279T>G (p.Ala2093=) c.6327T>G (p.Ala2109=) c.6309T>G (p.Ala2103=) c.6237T>G (p.Ala2079=) c.6264T>G (p.Ala2088=) c.6267T>G (p.Ala2089=) c.6306T>G (p.Ala2102=) c.6276T>G (p.Ala2092=) n.3098T>G c.6171T>G (p.Ala2057=) c.6234T>G (p.Ala2078=) c.6174T>G (p.Ala2058=) c.6372T>G (p.Ala2124=) c.6369T>G (p.Ala2123=) | |
2 | g.71686463G>A | CA347227865 | DYSF | c.3745G>A (p.Ala1249Thr) c.2962G>A (p.Ala988Thr) c.3070G>A (p.Ala1024Thr) c.6214G>A (p.Ala2072Thr) c.6331G>A (p.Ala2111Thr) c.6217G>A (p.Ala2073Thr) c.6280G>A (p.Ala2094Thr) c.6328G>A (p.Ala2110Thr) c.6310G>A (p.Ala2104Thr) c.6238G>A (p.Ala2080Thr) c.6265G>A (p.Ala2089Thr) c.6268G>A (p.Ala2090Thr) c.6307G>A (p.Ala2103Thr) c.6277G>A (p.Ala2093Thr) n.3099G>A c.6172G>A (p.Ala2058Thr) c.6235G>A (p.Ala2079Thr) c.6175G>A (p.Ala2059Thr) c.6373G>A (p.Ala2125Thr) c.6370G>A (p.Ala2124Thr) | |
2 | g.71686463G>C | CA347227863 | DYSF | c.3745G>C (p.Ala1249Pro) c.2962G>C (p.Ala988Pro) c.3070G>C (p.Ala1024Pro) c.6214G>C (p.Ala2072Pro) c.6331G>C (p.Ala2111Pro) c.6217G>C (p.Ala2073Pro) c.6280G>C (p.Ala2094Pro) c.6328G>C (p.Ala2110Pro) c.6310G>C (p.Ala2104Pro) c.6238G>C (p.Ala2080Pro) c.6265G>C (p.Ala2089Pro) c.6268G>C (p.Ala2090Pro) c.6307G>C (p.Ala2103Pro) c.6277G>C (p.Ala2093Pro) n.3099G>C c.6172G>C (p.Ala2058Pro) c.6235G>C (p.Ala2079Pro) c.6175G>C (p.Ala2059Pro) c.6373G>C (p.Ala2125Pro) c.6370G>C (p.Ala2124Pro) | |
2 | g.71686463G>T | CA347227864 | DYSF | c.3745G>T (p.Ala1249Ser) c.2962G>T (p.Ala988Ser) c.3070G>T (p.Ala1024Ser) c.6214G>T (p.Ala2072Ser) c.6331G>T (p.Ala2111Ser) c.6217G>T (p.Ala2073Ser) c.6280G>T (p.Ala2094Ser) c.6328G>T (p.Ala2110Ser) c.6310G>T (p.Ala2104Ser) c.6238G>T (p.Ala2080Ser) c.6265G>T (p.Ala2089Ser) c.6268G>T (p.Ala2090Ser) c.6307G>T (p.Ala2103Ser) c.6277G>T (p.Ala2093Ser) n.3099G>T c.6172G>T (p.Ala2058Ser) c.6235G>T (p.Ala2079Ser) c.6175G>T (p.Ala2059Ser) c.6373G>T (p.Ala2125Ser) c.6370G>T (p.Ala2124Ser) | |
2 | g.71686463_71686464delinsGC | CA1260160346 | DYSF | c.3745_3746delinsGC (p.Ala1249=) c.2962_2963delinsGC (p.Ala988=) c.3070_3071delinsGC (p.Ala1024=) c.6214_6215delinsGC (p.Ala2072=) c.6331_6332delinsGC (p.Ala2111=) c.6217_6218delinsGC (p.Ala2073=) c.6280_6281delinsGC (p.Ala2094=) c.6328_6329delinsGC (p.Ala2110=) c.6310_6311delinsGC (p.Ala2104=) c.6238_6239delinsGC (p.Ala2080=) c.6265_6266delinsGC (p.Ala2089=) c.6268_6269delinsGC (p.Ala2090=) c.6307_6308delinsGC (p.Ala2103=) c.6277_6278delinsGC (p.Ala2093=) n.3099_3100delinsGC c.6172_6173delinsGC (p.Ala2058=) c.6235_6236delinsGC (p.Ala2079=) c.6175_6176delinsGC (p.Ala2059=) c.6373_6374delinsGC (p.Ala2125=) c.6370_6371delinsGC (p.Ala2124=) | |
2 | g.71686464C>A | CA347227866 | DYSF | c.3746C>A (p.Ala1249Asp) c.2963C>A (p.Ala988Asp) c.3071C>A (p.Ala1024Asp) c.6215C>A (p.Ala2072Asp) c.6332C>A (p.Ala2111Asp) c.6218C>A (p.Ala2073Asp) c.6281C>A (p.Ala2094Asp) c.6329C>A (p.Ala2110Asp) c.6311C>A (p.Ala2104Asp) c.6239C>A (p.Ala2080Asp) c.6266C>A (p.Ala2089Asp) c.6269C>A (p.Ala2090Asp) c.6308C>A (p.Ala2103Asp) c.6278C>A (p.Ala2093Asp) n.3100C>A c.6173C>A (p.Ala2058Asp) c.6236C>A (p.Ala2079Asp) c.6176C>A (p.Ala2059Asp) c.6374C>A (p.Ala2125Asp) c.6371C>A (p.Ala2124Asp) | |
2 | g.71686464C= | CA1260160347 | DYSF | c.3746C= (p.Ala1249=) c.2963C= (p.Ala988=) c.3071C= (p.Ala1024=) c.6215C= (p.Ala2072=) c.6332C= (p.Ala2111=) c.6218C= (p.Ala2073=) c.6281C= (p.Ala2094=) c.6329C= (p.Ala2110=) c.6311C= (p.Ala2104=) c.6239C= (p.Ala2080=) c.6266C= (p.Ala2089=) c.6269C= (p.Ala2090=) c.6308C= (p.Ala2103=) c.6278C= (p.Ala2093=) n.3100C= c.6173C= (p.Ala2058=) c.6236C= (p.Ala2079=) c.6176C= (p.Ala2059=) c.6374C= (p.Ala2125=) c.6371C= (p.Ala2124=) | |
2 | g.71686464C>G | CA347227867 | DYSF | c.3746C>G (p.Ala1249Gly) c.2963C>G (p.Ala988Gly) c.3071C>G (p.Ala1024Gly) c.6215C>G (p.Ala2072Gly) c.6332C>G (p.Ala2111Gly) c.6218C>G (p.Ala2073Gly) c.6281C>G (p.Ala2094Gly) c.6329C>G (p.Ala2110Gly) c.6311C>G (p.Ala2104Gly) c.6239C>G (p.Ala2080Gly) c.6266C>G (p.Ala2089Gly) c.6269C>G (p.Ala2090Gly) c.6308C>G (p.Ala2103Gly) c.6278C>G (p.Ala2093Gly) n.3100C>G c.6173C>G (p.Ala2058Gly) c.6236C>G (p.Ala2079Gly) c.6176C>G (p.Ala2059Gly) c.6374C>G (p.Ala2125Gly) c.6371C>G (p.Ala2124Gly) | |
2 | g.71686464C>T | CA1707696 | DYSF | c.3746C>T (p.Ala1249Val) c.2963C>T (p.Ala988Val) c.3071C>T (p.Ala1024Val) c.6215C>T (p.Ala2072Val) c.6332C>T (p.Ala2111Val) c.6218C>T (p.Ala2073Val) c.6281C>T (p.Ala2094Val) c.6329C>T (p.Ala2110Val) c.6311C>T (p.Ala2104Val) c.6239C>T (p.Ala2080Val) c.6266C>T (p.Ala2089Val) c.6269C>T (p.Ala2090Val) c.6308C>T (p.Ala2103Val) c.6278C>T (p.Ala2093Val) n.3100C>T c.6173C>T (p.Ala2058Val) c.6236C>T (p.Ala2079Val) c.6176C>T (p.Ala2059Val) c.6374C>T (p.Ala2125Val) c.6371C>T (p.Ala2124Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71686465del | CA10606074 | DYSF | c.3747del (p.Met1250Ter) c.2964del (p.Met989Ter) c.3072del (p.Met1025Ter) c.6216del (p.Met2073Ter) c.6333del (p.Met2112Ter) c.6219del (p.Met2074Ter) c.6282del (p.Met2095Ter) c.6330del (p.Met2111Ter) c.6312del (p.Met2105Ter) c.6240del (p.Met2081Ter) c.6267del (p.Met2090Ter) c.6270del (p.Met2091Ter) c.6309del (p.Met2104Ter) c.6279del (p.Met2094Ter) n.3101del c.6174del (p.Met2059Ter) c.6237del (p.Met2080Ter) c.6177del (p.Met2060Ter) c.6375del (p.Met2126Ter) c.6372del (p.Met2125Ter) | ClinVar dbSNP |
2 | g.71686465C>A | CA426705040 | DYSF | c.3747C>A (p.Ala1249=) c.2964C>A (p.Ala988=) c.3072C>A (p.Ala1024=) c.6216C>A (p.Ala2072=) c.6333C>A (p.Ala2111=) c.6219C>A (p.Ala2073=) c.6282C>A (p.Ala2094=) c.6330C>A (p.Ala2110=) c.6312C>A (p.Ala2104=) c.6240C>A (p.Ala2080=) c.6267C>A (p.Ala2089=) c.6270C>A (p.Ala2090=) c.6309C>A (p.Ala2103=) c.6279C>A (p.Ala2093=) n.3101C>A c.6174C>A (p.Ala2058=) c.6237C>A (p.Ala2079=) c.6177C>A (p.Ala2059=) c.6375C>A (p.Ala2125=) c.6372C>A (p.Ala2124=) | |
2 | g.71686465C>G | CA426705041 | DYSF | c.3747C>G (p.Ala1249=) c.2964C>G (p.Ala988=) c.3072C>G (p.Ala1024=) c.6216C>G (p.Ala2072=) c.6333C>G (p.Ala2111=) c.6219C>G (p.Ala2073=) c.6282C>G (p.Ala2094=) c.6330C>G (p.Ala2110=) c.6312C>G (p.Ala2104=) c.6240C>G (p.Ala2080=) c.6267C>G (p.Ala2089=) c.6270C>G (p.Ala2090=) c.6309C>G (p.Ala2103=) c.6279C>G (p.Ala2093=) n.3101C>G c.6174C>G (p.Ala2058=) c.6237C>G (p.Ala2079=) c.6177C>G (p.Ala2059=) c.6375C>G (p.Ala2125=) c.6372C>G (p.Ala2124=) | |
2 | g.71686465C>T | CA426705042 | DYSF | c.3747C>T (p.Ala1249=) c.2964C>T (p.Ala988=) c.3072C>T (p.Ala1024=) c.6216C>T (p.Ala2072=) c.6333C>T (p.Ala2111=) c.6219C>T (p.Ala2073=) c.6282C>T (p.Ala2094=) c.6330C>T (p.Ala2110=) c.6312C>T (p.Ala2104=) c.6240C>T (p.Ala2080=) c.6267C>T (p.Ala2089=) c.6270C>T (p.Ala2090=) c.6309C>T (p.Ala2103=) c.6279C>T (p.Ala2093=) n.3101C>T c.6174C>T (p.Ala2058=) c.6237C>T (p.Ala2079=) c.6177C>T (p.Ala2059=) c.6375C>T (p.Ala2125=) c.6372C>T (p.Ala2124=) | ClinVar dbSNP |
2 | g.71686466A>C | CA347227868 | DYSF | c.3748A>C (p.Met1250Leu) c.2965A>C (p.Met989Leu) c.3073A>C (p.Met1025Leu) c.6217A>C (p.Met2073Leu) c.6334A>C (p.Met2112Leu) c.6220A>C (p.Met2074Leu) c.6283A>C (p.Met2095Leu) c.6331A>C (p.Met2111Leu) c.6313A>C (p.Met2105Leu) c.6241A>C (p.Met2081Leu) c.6268A>C (p.Met2090Leu) c.6271A>C (p.Met2091Leu) c.6310A>C (p.Met2104Leu) c.6280A>C (p.Met2094Leu) n.3102A>C c.6175A>C (p.Met2059Leu) c.6238A>C (p.Met2080Leu) c.6178A>C (p.Met2060Leu) c.6376A>C (p.Met2126Leu) c.6373A>C (p.Met2125Leu) | |
2 | g.71686466A>G | CA347227869 | DYSF | c.3748A>G (p.Met1250Val) c.2965A>G (p.Met989Val) c.3073A>G (p.Met1025Val) c.6217A>G (p.Met2073Val) c.6334A>G (p.Met2112Val) c.6220A>G (p.Met2074Val) c.6283A>G (p.Met2095Val) c.6331A>G (p.Met2111Val) c.6313A>G (p.Met2105Val) c.6241A>G (p.Met2081Val) c.6268A>G (p.Met2090Val) c.6271A>G (p.Met2091Val) c.6310A>G (p.Met2104Val) c.6280A>G (p.Met2094Val) n.3102A>G c.6175A>G (p.Met2059Val) c.6238A>G (p.Met2080Val) c.6178A>G (p.Met2060Val) c.6376A>G (p.Met2126Val) c.6373A>G (p.Met2125Val) | ClinVar dbSNP gnomAD v4 |
2 | g.71686466A>T | CA347227870 | DYSF | c.3748A>T (p.Met1250Leu) c.2965A>T (p.Met989Leu) c.3073A>T (p.Met1025Leu) c.6217A>T (p.Met2073Leu) c.6334A>T (p.Met2112Leu) c.6220A>T (p.Met2074Leu) c.6283A>T (p.Met2095Leu) c.6331A>T (p.Met2111Leu) c.6313A>T (p.Met2105Leu) c.6241A>T (p.Met2081Leu) c.6268A>T (p.Met2090Leu) c.6271A>T (p.Met2091Leu) c.6310A>T (p.Met2104Leu) c.6280A>T (p.Met2094Leu) n.3102A>T c.6175A>T (p.Met2059Leu) c.6238A>T (p.Met2080Leu) c.6178A>T (p.Met2060Leu) c.6376A>T (p.Met2126Leu) c.6373A>T (p.Met2125Leu) | gnomAD v4 |
2 | g.71686467T>A | CA347227871 | DYSF | c.3749T>A (p.Met1250Lys) c.2966T>A (p.Met989Lys) c.3074T>A (p.Met1025Lys) c.6218T>A (p.Met2073Lys) c.6335T>A (p.Met2112Lys) c.6221T>A (p.Met2074Lys) c.6284T>A (p.Met2095Lys) c.6332T>A (p.Met2111Lys) c.6314T>A (p.Met2105Lys) c.6242T>A (p.Met2081Lys) c.6269T>A (p.Met2090Lys) c.6272T>A (p.Met2091Lys) c.6311T>A (p.Met2104Lys) c.6281T>A (p.Met2094Lys) n.3103T>A c.6176T>A (p.Met2059Lys) c.6239T>A (p.Met2080Lys) c.6179T>A (p.Met2060Lys) c.6377T>A (p.Met2126Lys) c.6374T>A (p.Met2125Lys) | |
2 | g.71686467T>C | CA347227872 | DYSF | c.3749T>C (p.Met1250Thr) c.2966T>C (p.Met989Thr) c.3074T>C (p.Met1025Thr) c.6218T>C (p.Met2073Thr) c.6335T>C (p.Met2112Thr) c.6221T>C (p.Met2074Thr) c.6284T>C (p.Met2095Thr) c.6332T>C (p.Met2111Thr) c.6314T>C (p.Met2105Thr) c.6242T>C (p.Met2081Thr) c.6269T>C (p.Met2090Thr) c.6272T>C (p.Met2091Thr) c.6311T>C (p.Met2104Thr) c.6281T>C (p.Met2094Thr) n.3103T>C c.6176T>C (p.Met2059Thr) c.6239T>C (p.Met2080Thr) c.6179T>C (p.Met2060Thr) c.6377T>C (p.Met2126Thr) c.6374T>C (p.Met2125Thr) | gnomAD v4 |
2 | g.71686467T>G | CA347227873 | DYSF | c.3749T>G (p.Met1250Arg) c.2966T>G (p.Met989Arg) c.3074T>G (p.Met1025Arg) c.6218T>G (p.Met2073Arg) c.6335T>G (p.Met2112Arg) c.6221T>G (p.Met2074Arg) c.6284T>G (p.Met2095Arg) c.6332T>G (p.Met2111Arg) c.6314T>G (p.Met2105Arg) c.6242T>G (p.Met2081Arg) c.6269T>G (p.Met2090Arg) c.6272T>G (p.Met2091Arg) c.6311T>G (p.Met2104Arg) c.6281T>G (p.Met2094Arg) n.3103T>G c.6176T>G (p.Met2059Arg) c.6239T>G (p.Met2080Arg) c.6179T>G (p.Met2060Arg) c.6377T>G (p.Met2126Arg) c.6374T>G (p.Met2125Arg) | ClinVar |
2 | g.71686468G>A | CA347227874 | DYSF | c.3750G>A (p.Met1250Ile) c.2967G>A (p.Met989Ile) c.3075G>A (p.Met1025Ile) c.6219G>A (p.Met2073Ile) c.6336G>A (p.Met2112Ile) c.6222G>A (p.Met2074Ile) c.6285G>A (p.Met2095Ile) c.6333G>A (p.Met2111Ile) c.6315G>A (p.Met2105Ile) c.6243G>A (p.Met2081Ile) c.6270G>A (p.Met2090Ile) c.6273G>A (p.Met2091Ile) c.6312G>A (p.Met2104Ile) c.6282G>A (p.Met2094Ile) n.3104G>A c.6177G>A (p.Met2059Ile) c.6240G>A (p.Met2080Ile) c.6180G>A (p.Met2060Ile) c.6378G>A (p.Met2126Ile) c.6375G>A (p.Met2125Ile) | |
2 | g.71686468G>C | CA347227875 | DYSF | c.3750G>C (p.Met1250Ile) c.2967G>C (p.Met989Ile) c.3075G>C (p.Met1025Ile) c.6219G>C (p.Met2073Ile) c.6336G>C (p.Met2112Ile) c.6222G>C (p.Met2074Ile) c.6285G>C (p.Met2095Ile) c.6333G>C (p.Met2111Ile) c.6315G>C (p.Met2105Ile) c.6243G>C (p.Met2081Ile) c.6270G>C (p.Met2090Ile) c.6273G>C (p.Met2091Ile) c.6312G>C (p.Met2104Ile) c.6282G>C (p.Met2094Ile) n.3104G>C c.6177G>C (p.Met2059Ile) c.6240G>C (p.Met2080Ile) c.6180G>C (p.Met2060Ile) c.6378G>C (p.Met2126Ile) c.6375G>C (p.Met2125Ile) | |
2 | g.71686468G>T | CA347227876 | DYSF | c.3750G>T (p.Met1250Ile) c.2967G>T (p.Met989Ile) c.3075G>T (p.Met1025Ile) c.6219G>T (p.Met2073Ile) c.6336G>T (p.Met2112Ile) c.6222G>T (p.Met2074Ile) c.6285G>T (p.Met2095Ile) c.6333G>T (p.Met2111Ile) c.6315G>T (p.Met2105Ile) c.6243G>T (p.Met2081Ile) c.6270G>T (p.Met2090Ile) c.6273G>T (p.Met2091Ile) c.6312G>T (p.Met2104Ile) c.6282G>T (p.Met2094Ile) n.3104G>T c.6177G>T (p.Met2059Ile) c.6240G>T (p.Met2080Ile) c.6180G>T (p.Met2060Ile) c.6378G>T (p.Met2126Ile) c.6375G>T (p.Met2125Ile) | |
2 | g.71686469A>C | CA347227878 | DYSF | c.3751A>C (p.Lys1251Gln) c.2968A>C (p.Lys990Gln) c.3076A>C (p.Lys1026Gln) c.6220A>C (p.Lys2074Gln) c.6337A>C (p.Lys2113Gln) c.6223A>C (p.Lys2075Gln) c.6286A>C (p.Lys2096Gln) c.6334A>C (p.Lys2112Gln) c.6316A>C (p.Lys2106Gln) c.6244A>C (p.Lys2082Gln) c.6271A>C (p.Lys2091Gln) c.6274A>C (p.Lys2092Gln) c.6313A>C (p.Lys2105Gln) c.6283A>C (p.Lys2095Gln) n.3105A>C c.6178A>C (p.Lys2060Gln) c.6241A>C (p.Lys2081Gln) c.6181A>C (p.Lys2061Gln) c.6379A>C (p.Lys2127Gln) c.6376A>C (p.Lys2126Gln) | |
2 | g.71686469A>G | CA347227879 | DYSF | c.3751A>G (p.Lys1251Glu) c.2968A>G (p.Lys990Glu) c.3076A>G (p.Lys1026Glu) c.6220A>G (p.Lys2074Glu) c.6337A>G (p.Lys2113Glu) c.6223A>G (p.Lys2075Glu) c.6286A>G (p.Lys2096Glu) c.6334A>G (p.Lys2112Glu) c.6316A>G (p.Lys2106Glu) c.6244A>G (p.Lys2082Glu) c.6271A>G (p.Lys2091Glu) c.6274A>G (p.Lys2092Glu) c.6313A>G (p.Lys2105Glu) c.6283A>G (p.Lys2095Glu) n.3105A>G c.6178A>G (p.Lys2060Glu) c.6241A>G (p.Lys2081Glu) c.6181A>G (p.Lys2061Glu) c.6379A>G (p.Lys2127Glu) c.6376A>G (p.Lys2126Glu) | |
2 | g.71686469A>T | CA347227877 | DYSF | c.3751A>T (p.Lys1251Ter) c.2968A>T (p.Lys990Ter) c.3076A>T (p.Lys1026Ter) c.6220A>T (p.Lys2074Ter) c.6337A>T (p.Lys2113Ter) c.6223A>T (p.Lys2075Ter) c.6286A>T (p.Lys2096Ter) c.6334A>T (p.Lys2112Ter) c.6316A>T (p.Lys2106Ter) c.6244A>T (p.Lys2082Ter) c.6271A>T (p.Lys2091Ter) c.6274A>T (p.Lys2092Ter) c.6313A>T (p.Lys2105Ter) c.6283A>T (p.Lys2095Ter) n.3105A>T c.6178A>T (p.Lys2060Ter) c.6241A>T (p.Lys2081Ter) c.6181A>T (p.Lys2061Ter) c.6379A>T (p.Lys2127Ter) c.6376A>T (p.Lys2126Ter) | |
2 | g.71686470del | CA2659556534 | DYSF | c.3752del (p.Lys1251SerfsTer3) c.2969del (p.Lys990SerfsTer3) c.3077del (p.Lys1026SerfsTer3) c.6221del (p.Lys2074SerfsTer3) c.6338del (p.Lys2113SerfsTer3) c.6224del (p.Lys2075SerfsTer3) c.6287del (p.Lys2096SerfsTer3) c.6335del (p.Lys2112SerfsTer3) c.6317del (p.Lys2106SerfsTer3) c.6245del (p.Lys2082SerfsTer3) c.6272del (p.Lys2091SerfsTer3) c.6275del (p.Lys2092SerfsTer3) c.6314del (p.Lys2105SerfsTer3) c.6284del (p.Lys2095SerfsTer3) n.3106del c.6179del (p.Lys2060SerfsTer3) c.6242del (p.Lys2081SerfsTer3) c.6182del (p.Lys2061SerfsTer3) c.6380del (p.Lys2127SerfsTer3) c.6377del (p.Lys2126SerfsTer3) | gnomAD v4 |
2 | g.71686470A= | CA1260160348 | DYSF | c.3752A= (p.Lys1251=) c.2969A= (p.Lys990=) c.3077A= (p.Lys1026=) c.6221A= (p.Lys2074=) c.6338A= (p.Lys2113=) c.6224A= (p.Lys2075=) c.6287A= (p.Lys2096=) c.6335A= (p.Lys2112=) c.6317A= (p.Lys2106=) c.6245A= (p.Lys2082=) c.6272A= (p.Lys2091=) c.6275A= (p.Lys2092=) c.6314A= (p.Lys2105=) c.6284A= (p.Lys2095=) n.3106A= c.6179A= (p.Lys2060=) c.6242A= (p.Lys2081=) c.6182A= (p.Lys2061=) c.6380A= (p.Lys2127=) c.6377A= (p.Lys2126=) | |
2 | g.71686470A>C | CA347227881 | DYSF | c.3752A>C (p.Lys1251Thr) c.2969A>C (p.Lys990Thr) c.3077A>C (p.Lys1026Thr) c.6221A>C (p.Lys2074Thr) c.6338A>C (p.Lys2113Thr) c.6224A>C (p.Lys2075Thr) c.6287A>C (p.Lys2096Thr) c.6335A>C (p.Lys2112Thr) c.6317A>C (p.Lys2106Thr) c.6245A>C (p.Lys2082Thr) c.6272A>C (p.Lys2091Thr) c.6275A>C (p.Lys2092Thr) c.6314A>C (p.Lys2105Thr) c.6284A>C (p.Lys2095Thr) n.3106A>C c.6179A>C (p.Lys2060Thr) c.6242A>C (p.Lys2081Thr) c.6182A>C (p.Lys2061Thr) c.6380A>C (p.Lys2127Thr) c.6377A>C (p.Lys2126Thr) | |
2 | g.71686470A>G | CA49779629 | DYSF | c.3752A>G (p.Lys1251Arg) c.2969A>G (p.Lys990Arg) c.3077A>G (p.Lys1026Arg) c.6221A>G (p.Lys2074Arg) c.6338A>G (p.Lys2113Arg) c.6224A>G (p.Lys2075Arg) c.6287A>G (p.Lys2096Arg) c.6335A>G (p.Lys2112Arg) c.6317A>G (p.Lys2106Arg) c.6245A>G (p.Lys2082Arg) c.6272A>G (p.Lys2091Arg) c.6275A>G (p.Lys2092Arg) c.6314A>G (p.Lys2105Arg) c.6284A>G (p.Lys2095Arg) n.3106A>G c.6179A>G (p.Lys2060Arg) c.6242A>G (p.Lys2081Arg) c.6182A>G (p.Lys2061Arg) c.6380A>G (p.Lys2127Arg) c.6377A>G (p.Lys2126Arg) | dbSNP gnomAD v4 |
2 | g.71686470A>T | CA347227880 | DYSF | c.3752A>T (p.Lys1251Met) c.2969A>T (p.Lys990Met) c.3077A>T (p.Lys1026Met) c.6221A>T (p.Lys2074Met) c.6338A>T (p.Lys2113Met) c.6224A>T (p.Lys2075Met) c.6287A>T (p.Lys2096Met) c.6335A>T (p.Lys2112Met) c.6317A>T (p.Lys2106Met) c.6245A>T (p.Lys2082Met) c.6272A>T (p.Lys2091Met) c.6275A>T (p.Lys2092Met) c.6314A>T (p.Lys2105Met) c.6284A>T (p.Lys2095Met) n.3106A>T c.6179A>T (p.Lys2060Met) c.6242A>T (p.Lys2081Met) c.6182A>T (p.Lys2061Met) c.6380A>T (p.Lys2127Met) c.6377A>T (p.Lys2126Met) | |
2 | g.71686471G>A | CA426705043 | DYSF | c.3753G>A (p.Lys1251=) c.2970G>A (p.Lys990=) c.3078G>A (p.Lys1026=) c.6222G>A (p.Lys2074=) c.6339G>A (p.Lys2113=) c.6225G>A (p.Lys2075=) c.6288G>A (p.Lys2096=) c.6336G>A (p.Lys2112=) c.6318G>A (p.Lys2106=) c.6246G>A (p.Lys2082=) c.6273G>A (p.Lys2091=) c.6276G>A (p.Lys2092=) c.6315G>A (p.Lys2105=) c.6285G>A (p.Lys2095=) n.3107G>A c.6180G>A (p.Lys2060=) c.6243G>A (p.Lys2081=) c.6183G>A (p.Lys2061=) c.6381G>A (p.Lys2127=) c.6378G>A (p.Lys2126=) | dbSNP |
2 | g.71686471G>C | CA347227882 | DYSF | c.3753G>C (p.Lys1251Asn) c.2970G>C (p.Lys990Asn) c.3078G>C (p.Lys1026Asn) c.6222G>C (p.Lys2074Asn) c.6339G>C (p.Lys2113Asn) c.6225G>C (p.Lys2075Asn) c.6288G>C (p.Lys2096Asn) c.6336G>C (p.Lys2112Asn) c.6318G>C (p.Lys2106Asn) c.6246G>C (p.Lys2082Asn) c.6273G>C (p.Lys2091Asn) c.6276G>C (p.Lys2092Asn) c.6315G>C (p.Lys2105Asn) c.6285G>C (p.Lys2095Asn) n.3107G>C c.6180G>C (p.Lys2060Asn) c.6243G>C (p.Lys2081Asn) c.6183G>C (p.Lys2061Asn) c.6381G>C (p.Lys2127Asn) c.6378G>C (p.Lys2126Asn) | |
2 | g.71686471G= | CA1260160349 | DYSF | c.3753G= (p.Lys1251=) c.2970G= (p.Lys990=) c.3078G= (p.Lys1026=) c.6222G= (p.Lys2074=) c.6339G= (p.Lys2113=) c.6225G= (p.Lys2075=) c.6288G= (p.Lys2096=) c.6336G= (p.Lys2112=) c.6318G= (p.Lys2106=) c.6246G= (p.Lys2082=) c.6273G= (p.Lys2091=) c.6276G= (p.Lys2092=) c.6315G= (p.Lys2105=) c.6285G= (p.Lys2095=) n.3107G= c.6180G= (p.Lys2060=) c.6243G= (p.Lys2081=) c.6183G= (p.Lys2061=) c.6381G= (p.Lys2127=) c.6378G= (p.Lys2126=) | |
2 | g.71686471G>T | CA347227883 | DYSF | c.3753G>T (p.Lys1251Asn) c.2970G>T (p.Lys990Asn) c.3078G>T (p.Lys1026Asn) c.6222G>T (p.Lys2074Asn) c.6339G>T (p.Lys2113Asn) c.6225G>T (p.Lys2075Asn) c.6288G>T (p.Lys2096Asn) c.6336G>T (p.Lys2112Asn) c.6318G>T (p.Lys2106Asn) c.6246G>T (p.Lys2082Asn) c.6273G>T (p.Lys2091Asn) c.6276G>T (p.Lys2092Asn) c.6315G>T (p.Lys2105Asn) c.6285G>T (p.Lys2095Asn) n.3107G>T c.6180G>T (p.Lys2060Asn) c.6243G>T (p.Lys2081Asn) c.6183G>T (p.Lys2061Asn) c.6381G>T (p.Lys2127Asn) c.6378G>T (p.Lys2126Asn) | |
2 | g.71686472C>A | CA347227884 | DYSF | c.3754C>A (p.Leu1252Met) c.2971C>A (p.Leu991Met) c.3079C>A (p.Leu1027Met) c.6223C>A (p.Leu2075Met) c.6340C>A (p.Leu2114Met) c.6226C>A (p.Leu2076Met) c.6289C>A (p.Leu2097Met) c.6337C>A (p.Leu2113Met) c.6319C>A (p.Leu2107Met) c.6247C>A (p.Leu2083Met) c.6274C>A (p.Leu2092Met) c.6277C>A (p.Leu2093Met) c.6316C>A (p.Leu2106Met) c.6286C>A (p.Leu2096Met) n.3108C>A c.6181C>A (p.Leu2061Met) c.6244C>A (p.Leu2082Met) c.6184C>A (p.Leu2062Met) c.6382C>A (p.Leu2128Met) c.6379C>A (p.Leu2127Met) | |
2 | g.71686472C= | CA1260160350 | DYSF | c.3754C= (p.Leu1252=) c.2971C= (p.Leu991=) c.3079C= (p.Leu1027=) c.6223C= (p.Leu2075=) c.6340C= (p.Leu2114=) c.6226C= (p.Leu2076=) c.6289C= (p.Leu2097=) c.6337C= (p.Leu2113=) c.6319C= (p.Leu2107=) c.6247C= (p.Leu2083=) c.6274C= (p.Leu2092=) c.6277C= (p.Leu2093=) c.6316C= (p.Leu2106=) c.6286C= (p.Leu2096=) n.3108C= c.6181C= (p.Leu2061=) c.6244C= (p.Leu2082=) c.6184C= (p.Leu2062=) c.6382C= (p.Leu2128=) c.6379C= (p.Leu2127=) | |
2 | g.71686472C>G | CA347227885 | DYSF | c.3754C>G (p.Leu1252Val) c.2971C>G (p.Leu991Val) c.3079C>G (p.Leu1027Val) c.6223C>G (p.Leu2075Val) c.6340C>G (p.Leu2114Val) c.6226C>G (p.Leu2076Val) c.6289C>G (p.Leu2097Val) c.6337C>G (p.Leu2113Val) c.6319C>G (p.Leu2107Val) c.6247C>G (p.Leu2083Val) c.6274C>G (p.Leu2092Val) c.6277C>G (p.Leu2093Val) c.6316C>G (p.Leu2106Val) c.6286C>G (p.Leu2096Val) n.3108C>G c.6181C>G (p.Leu2061Val) c.6244C>G (p.Leu2082Val) c.6184C>G (p.Leu2062Val) c.6382C>G (p.Leu2128Val) c.6379C>G (p.Leu2127Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71686472C>T | CA426705044 | DYSF | c.3754C>T (p.Leu1252=) c.2971C>T (p.Leu991=) c.3079C>T (p.Leu1027=) c.6223C>T (p.Leu2075=) c.6340C>T (p.Leu2114=) c.6226C>T (p.Leu2076=) c.6289C>T (p.Leu2097=) c.6337C>T (p.Leu2113=) c.6319C>T (p.Leu2107=) c.6247C>T (p.Leu2083=) c.6274C>T (p.Leu2092=) c.6277C>T (p.Leu2093=) c.6316C>T (p.Leu2106=) c.6286C>T (p.Leu2096=) n.3108C>T c.6181C>T (p.Leu2061=) c.6244C>T (p.Leu2082=) c.6184C>T (p.Leu2062=) c.6382C>T (p.Leu2128=) c.6379C>T (p.Leu2127=) | ClinVar |
2 | g.71686473T>A | CA347227886 | DYSF | c.3755T>A (p.Leu1252Gln) c.2972T>A (p.Leu991Gln) c.3080T>A (p.Leu1027Gln) c.6224T>A (p.Leu2075Gln) c.6341T>A (p.Leu2114Gln) c.6227T>A (p.Leu2076Gln) c.6290T>A (p.Leu2097Gln) c.6338T>A (p.Leu2113Gln) c.6320T>A (p.Leu2107Gln) c.6248T>A (p.Leu2083Gln) c.6275T>A (p.Leu2092Gln) c.6278T>A (p.Leu2093Gln) c.6317T>A (p.Leu2106Gln) c.6287T>A (p.Leu2096Gln) n.3109T>A c.6182T>A (p.Leu2061Gln) c.6245T>A (p.Leu2082Gln) c.6185T>A (p.Leu2062Gln) c.6383T>A (p.Leu2128Gln) c.6380T>A (p.Leu2127Gln) | |
2 | g.71686473T>C | CA347227887 | DYSF | c.3755T>C (p.Leu1252Pro) c.2972T>C (p.Leu991Pro) c.3080T>C (p.Leu1027Pro) c.6224T>C (p.Leu2075Pro) c.6341T>C (p.Leu2114Pro) c.6227T>C (p.Leu2076Pro) c.6290T>C (p.Leu2097Pro) c.6338T>C (p.Leu2113Pro) c.6320T>C (p.Leu2107Pro) c.6248T>C (p.Leu2083Pro) c.6275T>C (p.Leu2092Pro) c.6278T>C (p.Leu2093Pro) c.6317T>C (p.Leu2106Pro) c.6287T>C (p.Leu2096Pro) n.3109T>C c.6182T>C (p.Leu2061Pro) c.6245T>C (p.Leu2082Pro) c.6185T>C (p.Leu2062Pro) c.6383T>C (p.Leu2128Pro) c.6380T>C (p.Leu2127Pro) | |
2 | g.71686473T>G | CA347227888 | DYSF | c.3755T>G (p.Leu1252Arg) c.2972T>G (p.Leu991Arg) c.3080T>G (p.Leu1027Arg) c.6224T>G (p.Leu2075Arg) c.6341T>G (p.Leu2114Arg) c.6227T>G (p.Leu2076Arg) c.6290T>G (p.Leu2097Arg) c.6338T>G (p.Leu2113Arg) c.6320T>G (p.Leu2107Arg) c.6248T>G (p.Leu2083Arg) c.6275T>G (p.Leu2092Arg) c.6278T>G (p.Leu2093Arg) c.6317T>G (p.Leu2106Arg) c.6287T>G (p.Leu2096Arg) n.3109T>G c.6182T>G (p.Leu2061Arg) c.6245T>G (p.Leu2082Arg) c.6185T>G (p.Leu2062Arg) c.6383T>G (p.Leu2128Arg) c.6380T>G (p.Leu2127Arg) | |
2 | g.71686474G>A | CA1707697 | DYSF | c.3756G>A (p.Leu1252=) c.2973G>A (p.Leu991=) c.3081G>A (p.Leu1027=) c.6225G>A (p.Leu2075=) c.6342G>A (p.Leu2114=) c.6228G>A (p.Leu2076=) c.6291G>A (p.Leu2097=) c.6339G>A (p.Leu2113=) c.6321G>A (p.Leu2107=) c.6249G>A (p.Leu2083=) c.6276G>A (p.Leu2092=) c.6279G>A (p.Leu2093=) c.6318G>A (p.Leu2106=) c.6288G>A (p.Leu2096=) n.3110G>A c.6183G>A (p.Leu2061=) c.6246G>A (p.Leu2082=) c.6186G>A (p.Leu2062=) c.6384G>A (p.Leu2128=) c.6381G>A (p.Leu2127=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71686474G>C | CA426705045 | DYSF | c.3756G>C (p.Leu1252=) c.2973G>C (p.Leu991=) c.3081G>C (p.Leu1027=) c.6225G>C (p.Leu2075=) c.6342G>C (p.Leu2114=) c.6228G>C (p.Leu2076=) c.6291G>C (p.Leu2097=) c.6339G>C (p.Leu2113=) c.6321G>C (p.Leu2107=) c.6249G>C (p.Leu2083=) c.6276G>C (p.Leu2092=) c.6279G>C (p.Leu2093=) c.6318G>C (p.Leu2106=) c.6288G>C (p.Leu2096=) n.3110G>C c.6183G>C (p.Leu2061=) c.6246G>C (p.Leu2082=) c.6186G>C (p.Leu2062=) c.6384G>C (p.Leu2128=) c.6381G>C (p.Leu2127=) | |
2 | g.71686474G= | CA1260160351 | DYSF | c.3756G= (p.Leu1252=) c.2973G= (p.Leu991=) c.3081G= (p.Leu1027=) c.6225G= (p.Leu2075=) c.6342G= (p.Leu2114=) c.6228G= (p.Leu2076=) c.6291G= (p.Leu2097=) c.6339G= (p.Leu2113=) c.6321G= (p.Leu2107=) c.6249G= (p.Leu2083=) c.6276G= (p.Leu2092=) c.6279G= (p.Leu2093=) c.6318G= (p.Leu2106=) c.6288G= (p.Leu2096=) n.3110G= c.6183G= (p.Leu2061=) c.6246G= (p.Leu2082=) c.6186G= (p.Leu2062=) c.6384G= (p.Leu2128=) c.6381G= (p.Leu2127=) | |
2 | g.71686474G>T | CA426705046 | DYSF | c.3756G>T (p.Leu1252=) c.2973G>T (p.Leu991=) c.3081G>T (p.Leu1027=) c.6225G>T (p.Leu2075=) c.6342G>T (p.Leu2114=) c.6228G>T (p.Leu2076=) c.6291G>T (p.Leu2097=) c.6339G>T (p.Leu2113=) c.6321G>T (p.Leu2107=) c.6249G>T (p.Leu2083=) c.6276G>T (p.Leu2092=) c.6279G>T (p.Leu2093=) c.6318G>T (p.Leu2106=) c.6288G>T (p.Leu2096=) n.3110G>T c.6183G>T (p.Leu2061=) c.6246G>T (p.Leu2082=) c.6186G>T (p.Leu2062=) c.6384G>T (p.Leu2128=) c.6381G>T (p.Leu2127=) | |
2 | g.71686475G>A | CA347227889 | DYSF | c.3757G>A (p.Val1253Met) c.2974G>A (p.Val992Met) c.3082G>A (p.Val1028Met) c.6226G>A (p.Val2076Met) c.6343G>A (p.Val2115Met) c.6229G>A (p.Val2077Met) c.6292G>A (p.Val2098Met) c.6340G>A (p.Val2114Met) c.6322G>A (p.Val2108Met) c.6250G>A (p.Val2084Met) c.6277G>A (p.Val2093Met) c.6280G>A (p.Val2094Met) c.6319G>A (p.Val2107Met) c.6289G>A (p.Val2097Met) n.3111G>A c.6184G>A (p.Val2062Met) c.6247G>A (p.Val2083Met) c.6187G>A (p.Val2063Met) c.6385G>A (p.Val2129Met) c.6382G>A (p.Val2128Met) | |
2 | g.71686475G>C | CA347227890 | DYSF | c.3757G>C (p.Val1253Leu) c.2974G>C (p.Val992Leu) c.3082G>C (p.Val1028Leu) c.6226G>C (p.Val2076Leu) c.6343G>C (p.Val2115Leu) c.6229G>C (p.Val2077Leu) c.6292G>C (p.Val2098Leu) c.6340G>C (p.Val2114Leu) c.6322G>C (p.Val2108Leu) c.6250G>C (p.Val2084Leu) c.6277G>C (p.Val2093Leu) c.6280G>C (p.Val2094Leu) c.6319G>C (p.Val2107Leu) c.6289G>C (p.Val2097Leu) n.3111G>C c.6184G>C (p.Val2062Leu) c.6247G>C (p.Val2083Leu) c.6187G>C (p.Val2063Leu) c.6385G>C (p.Val2129Leu) c.6382G>C (p.Val2128Leu) | |
2 | g.71686475G>T | CA347227891 | DYSF | c.3757G>T (p.Val1253Leu) c.2974G>T (p.Val992Leu) c.3082G>T (p.Val1028Leu) c.6226G>T (p.Val2076Leu) c.6343G>T (p.Val2115Leu) c.6229G>T (p.Val2077Leu) c.6292G>T (p.Val2098Leu) c.6340G>T (p.Val2114Leu) c.6322G>T (p.Val2108Leu) c.6250G>T (p.Val2084Leu) c.6277G>T (p.Val2093Leu) c.6280G>T (p.Val2094Leu) c.6319G>T (p.Val2107Leu) c.6289G>T (p.Val2097Leu) n.3111G>T c.6184G>T (p.Val2062Leu) c.6247G>T (p.Val2083Leu) c.6187G>T (p.Val2063Leu) c.6385G>T (p.Val2129Leu) c.6382G>T (p.Val2128Leu) | |
2 | g.71686476T>A | CA347227892 | DYSF | c.3758T>A (p.Val1253Glu) c.2975T>A (p.Val992Glu) c.3083T>A (p.Val1028Glu) c.6227T>A (p.Val2076Glu) c.6344T>A (p.Val2115Glu) c.6230T>A (p.Val2077Glu) c.6293T>A (p.Val2098Glu) c.6341T>A (p.Val2114Glu) c.6323T>A (p.Val2108Glu) c.6251T>A (p.Val2084Glu) c.6278T>A (p.Val2093Glu) c.6281T>A (p.Val2094Glu) c.6320T>A (p.Val2107Glu) c.6290T>A (p.Val2097Glu) n.3112T>A c.6185T>A (p.Val2062Glu) c.6248T>A (p.Val2083Glu) c.6188T>A (p.Val2063Glu) c.6386T>A (p.Val2129Glu) c.6383T>A (p.Val2128Glu) | |
2 | g.71686476T>C | CA347227894 | DYSF | c.3758T>C (p.Val1253Ala) c.2975T>C (p.Val992Ala) c.3083T>C (p.Val1028Ala) c.6227T>C (p.Val2076Ala) c.6344T>C (p.Val2115Ala) c.6230T>C (p.Val2077Ala) c.6293T>C (p.Val2098Ala) c.6341T>C (p.Val2114Ala) c.6323T>C (p.Val2108Ala) c.6251T>C (p.Val2084Ala) c.6278T>C (p.Val2093Ala) c.6281T>C (p.Val2094Ala) c.6320T>C (p.Val2107Ala) c.6290T>C (p.Val2097Ala) n.3112T>C c.6185T>C (p.Val2062Ala) c.6248T>C (p.Val2083Ala) c.6188T>C (p.Val2063Ala) c.6386T>C (p.Val2129Ala) c.6383T>C (p.Val2128Ala) | |
2 | g.71686476T>G | CA347227893 | DYSF | c.3758T>G (p.Val1253Gly) c.2975T>G (p.Val992Gly) c.3083T>G (p.Val1028Gly) c.6227T>G (p.Val2076Gly) c.6344T>G (p.Val2115Gly) c.6230T>G (p.Val2077Gly) c.6293T>G (p.Val2098Gly) c.6341T>G (p.Val2114Gly) c.6323T>G (p.Val2108Gly) c.6251T>G (p.Val2084Gly) c.6278T>G (p.Val2093Gly) c.6281T>G (p.Val2094Gly) c.6320T>G (p.Val2107Gly) c.6290T>G (p.Val2097Gly) n.3112T>G c.6185T>G (p.Val2062Gly) c.6248T>G (p.Val2083Gly) c.6188T>G (p.Val2063Gly) c.6386T>G (p.Val2129Gly) c.6383T>G (p.Val2128Gly) | |
2 | g.71686477G>A | CA426705049 | DYSF | c.3759G>A (p.Val1253=) c.2976G>A (p.Val992=) c.3084G>A (p.Val1028=) c.6228G>A (p.Val2076=) c.6345G>A (p.Val2115=) c.6231G>A (p.Val2077=) c.6294G>A (p.Val2098=) c.6342G>A (p.Val2114=) c.6324G>A (p.Val2108=) c.6252G>A (p.Val2084=) c.6279G>A (p.Val2093=) c.6282G>A (p.Val2094=) c.6321G>A (p.Val2107=) c.6291G>A (p.Val2097=) n.3113G>A c.6186G>A (p.Val2062=) c.6249G>A (p.Val2083=) c.6189G>A (p.Val2063=) c.6387G>A (p.Val2129=) c.6384G>A (p.Val2128=) | ClinVar |
2 | g.71686477G>C | CA426705047 | DYSF | c.3759G>C (p.Val1253=) c.2976G>C (p.Val992=) c.3084G>C (p.Val1028=) c.6228G>C (p.Val2076=) c.6345G>C (p.Val2115=) c.6231G>C (p.Val2077=) c.6294G>C (p.Val2098=) c.6342G>C (p.Val2114=) c.6324G>C (p.Val2108=) c.6252G>C (p.Val2084=) c.6279G>C (p.Val2093=) c.6282G>C (p.Val2094=) c.6321G>C (p.Val2107=) c.6291G>C (p.Val2097=) n.3113G>C c.6186G>C (p.Val2062=) c.6249G>C (p.Val2083=) c.6189G>C (p.Val2063=) c.6387G>C (p.Val2129=) c.6384G>C (p.Val2128=) | |
2 | g.71686477G>T | CA426705048 | DYSF | c.3759G>T (p.Val1253=) c.2976G>T (p.Val992=) c.3084G>T (p.Val1028=) c.6228G>T (p.Val2076=) c.6345G>T (p.Val2115=) c.6231G>T (p.Val2077=) c.6294G>T (p.Val2098=) c.6342G>T (p.Val2114=) c.6324G>T (p.Val2108=) c.6252G>T (p.Val2084=) c.6279G>T (p.Val2093=) c.6282G>T (p.Val2094=) c.6321G>T (p.Val2107=) c.6291G>T (p.Val2097=) n.3113G>T c.6186G>T (p.Val2062=) c.6249G>T (p.Val2083=) c.6189G>T (p.Val2063=) c.6387G>T (p.Val2129=) c.6384G>T (p.Val2128=) | |
2 | g.71686478A>C | CA347227895 | DYSF | c.3760A>C (p.Lys1254Gln) c.2977A>C (p.Lys993Gln) c.3085A>C (p.Lys1029Gln) c.6229A>C (p.Lys2077Gln) c.6346A>C (p.Lys2116Gln) c.6232A>C (p.Lys2078Gln) c.6295A>C (p.Lys2099Gln) c.6343A>C (p.Lys2115Gln) c.6325A>C (p.Lys2109Gln) c.6253A>C (p.Lys2085Gln) c.6280A>C (p.Lys2094Gln) c.6283A>C (p.Lys2095Gln) c.6322A>C (p.Lys2108Gln) c.6292A>C (p.Lys2098Gln) n.3114A>C c.6187A>C (p.Lys2063Gln) c.6250A>C (p.Lys2084Gln) c.6190A>C (p.Lys2064Gln) c.6388A>C (p.Lys2130Gln) c.6385A>C (p.Lys2129Gln) | |
2 | g.71686478A>G | CA347227896 | DYSF | c.3760A>G (p.Lys1254Glu) c.2977A>G (p.Lys993Glu) c.3085A>G (p.Lys1029Glu) c.6229A>G (p.Lys2077Glu) c.6346A>G (p.Lys2116Glu) c.6232A>G (p.Lys2078Glu) c.6295A>G (p.Lys2099Glu) c.6343A>G (p.Lys2115Glu) c.6325A>G (p.Lys2109Glu) c.6253A>G (p.Lys2085Glu) c.6280A>G (p.Lys2094Glu) c.6283A>G (p.Lys2095Glu) c.6322A>G (p.Lys2108Glu) c.6292A>G (p.Lys2098Glu) n.3114A>G c.6187A>G (p.Lys2063Glu) c.6250A>G (p.Lys2084Glu) c.6190A>G (p.Lys2064Glu) c.6388A>G (p.Lys2130Glu) c.6385A>G (p.Lys2129Glu) | |
2 | g.71686478A>T | CA347227897 | DYSF | c.3760A>T (p.Lys1254Ter) c.2977A>T (p.Lys993Ter) c.3085A>T (p.Lys1029Ter) c.6229A>T (p.Lys2077Ter) c.6346A>T (p.Lys2116Ter) c.6232A>T (p.Lys2078Ter) c.6295A>T (p.Lys2099Ter) c.6343A>T (p.Lys2115Ter) c.6325A>T (p.Lys2109Ter) c.6253A>T (p.Lys2085Ter) c.6280A>T (p.Lys2094Ter) c.6283A>T (p.Lys2095Ter) c.6322A>T (p.Lys2108Ter) c.6292A>T (p.Lys2098Ter) n.3114A>T c.6187A>T (p.Lys2063Ter) c.6250A>T (p.Lys2084Ter) c.6190A>T (p.Lys2064Ter) c.6388A>T (p.Lys2130Ter) c.6385A>T (p.Lys2129Ter) | |
2 | g.71686479A= | CA1260160352 | DYSF | c.3761A= (p.Lys1254=) c.2978A= (p.Lys993=) c.3086A= (p.Lys1029=) c.6230A= (p.Lys2077=) c.6347A= (p.Lys2116=) c.6233A= (p.Lys2078=) c.6296A= (p.Lys2099=) c.6344A= (p.Lys2115=) c.6326A= (p.Lys2109=) c.6254A= (p.Lys2085=) c.6281A= (p.Lys2094=) c.6284A= (p.Lys2095=) c.6323A= (p.Lys2108=) c.6293A= (p.Lys2098=) n.3115A= c.6188A= (p.Lys2063=) c.6251A= (p.Lys2084=) c.6191A= (p.Lys2064=) c.6389A= (p.Lys2130=) c.6386A= (p.Lys2129=) | |
2 | g.71686479A>C | CA347227898 | DYSF | c.3761A>C (p.Lys1254Thr) c.2978A>C (p.Lys993Thr) c.3086A>C (p.Lys1029Thr) c.6230A>C (p.Lys2077Thr) c.6347A>C (p.Lys2116Thr) c.6233A>C (p.Lys2078Thr) c.6296A>C (p.Lys2099Thr) c.6344A>C (p.Lys2115Thr) c.6326A>C (p.Lys2109Thr) c.6254A>C (p.Lys2085Thr) c.6281A>C (p.Lys2094Thr) c.6284A>C (p.Lys2095Thr) c.6323A>C (p.Lys2108Thr) c.6293A>C (p.Lys2098Thr) n.3115A>C c.6188A>C (p.Lys2063Thr) c.6251A>C (p.Lys2084Thr) c.6191A>C (p.Lys2064Thr) c.6389A>C (p.Lys2130Thr) c.6386A>C (p.Lys2129Thr) | |
2 | g.71686479A>G | CA347227899 | DYSF | c.3761A>G (p.Lys1254Arg) c.2978A>G (p.Lys993Arg) c.3086A>G (p.Lys1029Arg) c.6230A>G (p.Lys2077Arg) c.6347A>G (p.Lys2116Arg) c.6233A>G (p.Lys2078Arg) c.6296A>G (p.Lys2099Arg) c.6344A>G (p.Lys2115Arg) c.6326A>G (p.Lys2109Arg) c.6254A>G (p.Lys2085Arg) c.6281A>G (p.Lys2094Arg) c.6284A>G (p.Lys2095Arg) c.6323A>G (p.Lys2108Arg) c.6293A>G (p.Lys2098Arg) n.3115A>G c.6188A>G (p.Lys2063Arg) c.6251A>G (p.Lys2084Arg) c.6191A>G (p.Lys2064Arg) c.6389A>G (p.Lys2130Arg) c.6386A>G (p.Lys2129Arg) | |
2 | g.71686479A>T | CA347227900 | DYSF | c.3761A>T (p.Lys1254Met) c.2978A>T (p.Lys993Met) c.3086A>T (p.Lys1029Met) c.6230A>T (p.Lys2077Met) c.6347A>T (p.Lys2116Met) c.6233A>T (p.Lys2078Met) c.6296A>T (p.Lys2099Met) c.6344A>T (p.Lys2115Met) c.6326A>T (p.Lys2109Met) c.6254A>T (p.Lys2085Met) c.6281A>T (p.Lys2094Met) c.6284A>T (p.Lys2095Met) c.6323A>T (p.Lys2108Met) c.6293A>T (p.Lys2098Met) n.3115A>T c.6188A>T (p.Lys2063Met) c.6251A>T (p.Lys2084Met) c.6191A>T (p.Lys2064Met) c.6389A>T (p.Lys2130Met) c.6386A>T (p.Lys2129Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.71686482_71686489del | CA1139532906 | DYSF | c.3764_3771del (p.Pro1255LeufsTer?) c.2981_2988del (p.Pro994LeufsTer?) c.3089_3096del (p.Pro1030LeufsTer?) c.6233_6240del (p.Pro2078LeufsTer?) c.6350_6357del (p.Pro2117LeufsTer?) c.6236_6243del (p.Pro2079LeufsTer?) c.6299_6306del (p.Pro2100LeufsTer?) c.6347_6354del (p.Pro2116LeufsTer?) c.6329_6336del (p.Pro2110LeufsTer?) c.6257_6264del (p.Pro2086LeufsTer?) c.6284_6291del (p.Pro2095LeufsTer?) c.6287_6294del (p.Pro2096LeufsTer?) c.6326_6333del (p.Pro2109LeufsTer?) c.6296_6303del (p.Pro2099LeufsTer?) n.3118_3125del c.6191_6198del (p.Pro2064LeufsTer?) c.6254_6261del (p.Pro2085LeufsTer?) c.6194_6201del (p.Pro2065LeufsTer?) c.6392_6399del (p.Pro2131LeufsTer?) c.6389_6396del (p.Pro2130LeufsTer?) | |
2 | g.71686480G>A | CA426705050 | DYSF | c.3762G>A (p.Lys1254=) c.2979G>A (p.Lys993=) c.3087G>A (p.Lys1029=) c.6231G>A (p.Lys2077=) c.6348G>A (p.Lys2116=) c.6234G>A (p.Lys2078=) c.6297G>A (p.Lys2099=) c.6345G>A (p.Lys2115=) c.6327G>A (p.Lys2109=) c.6255G>A (p.Lys2085=) c.6282G>A (p.Lys2094=) c.6285G>A (p.Lys2095=) c.6324G>A (p.Lys2108=) c.6294G>A (p.Lys2098=) n.3116G>A c.6189G>A (p.Lys2063=) c.6252G>A (p.Lys2084=) c.6192G>A (p.Lys2064=) c.6390G>A (p.Lys2130=) c.6387G>A (p.Lys2129=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71686480G>C | CA347227901 | DYSF | c.3762G>C (p.Lys1254Asn) c.2979G>C (p.Lys993Asn) c.3087G>C (p.Lys1029Asn) c.6231G>C (p.Lys2077Asn) c.6348G>C (p.Lys2116Asn) c.6234G>C (p.Lys2078Asn) c.6297G>C (p.Lys2099Asn) c.6345G>C (p.Lys2115Asn) c.6327G>C (p.Lys2109Asn) c.6255G>C (p.Lys2085Asn) c.6282G>C (p.Lys2094Asn) c.6285G>C (p.Lys2095Asn) c.6324G>C (p.Lys2108Asn) c.6294G>C (p.Lys2098Asn) n.3116G>C c.6189G>C (p.Lys2063Asn) c.6252G>C (p.Lys2084Asn) c.6192G>C (p.Lys2064Asn) c.6390G>C (p.Lys2130Asn) c.6387G>C (p.Lys2129Asn) | |
2 | g.71686480G= | CA1260160353 | DYSF | c.3762G= (p.Lys1254=) c.2979G= (p.Lys993=) c.3087G= (p.Lys1029=) c.6231G= (p.Lys2077=) c.6348G= (p.Lys2116=) c.6234G= (p.Lys2078=) c.6297G= (p.Lys2099=) c.6345G= (p.Lys2115=) c.6327G= (p.Lys2109=) c.6255G= (p.Lys2085=) c.6282G= (p.Lys2094=) c.6285G= (p.Lys2095=) c.6324G= (p.Lys2108=) c.6294G= (p.Lys2098=) n.3116G= c.6189G= (p.Lys2063=) c.6252G= (p.Lys2084=) c.6192G= (p.Lys2064=) c.6390G= (p.Lys2130=) c.6387G= (p.Lys2129=) | |
2 | g.71686480G>T | CA347227902 | DYSF | c.3762G>T (p.Lys1254Asn) c.2979G>T (p.Lys993Asn) c.3087G>T (p.Lys1029Asn) c.6231G>T (p.Lys2077Asn) c.6348G>T (p.Lys2116Asn) c.6234G>T (p.Lys2078Asn) c.6297G>T (p.Lys2099Asn) c.6345G>T (p.Lys2115Asn) c.6327G>T (p.Lys2109Asn) c.6255G>T (p.Lys2085Asn) c.6282G>T (p.Lys2094Asn) c.6285G>T (p.Lys2095Asn) c.6324G>T (p.Lys2108Asn) c.6294G>T (p.Lys2098Asn) n.3116G>T c.6189G>T (p.Lys2063Asn) c.6252G>T (p.Lys2084Asn) c.6192G>T (p.Lys2064Asn) c.6390G>T (p.Lys2130Asn) c.6387G>T (p.Lys2129Asn) | |
2 | g.71686481C>A | CA347227903 | DYSF | c.3763C>A (p.Pro1255Thr) c.2980C>A (p.Pro994Thr) c.3088C>A (p.Pro1030Thr) c.6232C>A (p.Pro2078Thr) c.6349C>A (p.Pro2117Thr) c.6235C>A (p.Pro2079Thr) c.6298C>A (p.Pro2100Thr) c.6346C>A (p.Pro2116Thr) c.6328C>A (p.Pro2110Thr) c.6256C>A (p.Pro2086Thr) c.6283C>A (p.Pro2095Thr) c.6286C>A (p.Pro2096Thr) c.6325C>A (p.Pro2109Thr) c.6295C>A (p.Pro2099Thr) n.3117C>A c.6190C>A (p.Pro2064Thr) c.6253C>A (p.Pro2085Thr) c.6193C>A (p.Pro2065Thr) c.6391C>A (p.Pro2131Thr) c.6388C>A (p.Pro2130Thr) | |
2 | g.71686481C>G | CA347227904 | DYSF | c.3763C>G (p.Pro1255Ala) c.2980C>G (p.Pro994Ala) c.3088C>G (p.Pro1030Ala) c.6232C>G (p.Pro2078Ala) c.6349C>G (p.Pro2117Ala) c.6235C>G (p.Pro2079Ala) c.6298C>G (p.Pro2100Ala) c.6346C>G (p.Pro2116Ala) c.6328C>G (p.Pro2110Ala) c.6256C>G (p.Pro2086Ala) c.6283C>G (p.Pro2095Ala) c.6286C>G (p.Pro2096Ala) c.6325C>G (p.Pro2109Ala) c.6295C>G (p.Pro2099Ala) n.3117C>G c.6190C>G (p.Pro2064Ala) c.6253C>G (p.Pro2085Ala) c.6193C>G (p.Pro2065Ala) c.6391C>G (p.Pro2131Ala) c.6388C>G (p.Pro2130Ala) | |
2 | g.71686481C>T | CA347227905 | DYSF | c.3763C>T (p.Pro1255Ser) c.2980C>T (p.Pro994Ser) c.3088C>T (p.Pro1030Ser) c.6232C>T (p.Pro2078Ser) c.6349C>T (p.Pro2117Ser) c.6235C>T (p.Pro2079Ser) c.6298C>T (p.Pro2100Ser) c.6346C>T (p.Pro2116Ser) c.6328C>T (p.Pro2110Ser) c.6256C>T (p.Pro2086Ser) c.6283C>T (p.Pro2095Ser) c.6286C>T (p.Pro2096Ser) c.6325C>T (p.Pro2109Ser) c.6295C>T (p.Pro2099Ser) n.3117C>T c.6190C>T (p.Pro2064Ser) c.6253C>T (p.Pro2085Ser) c.6193C>T (p.Pro2065Ser) c.6391C>T (p.Pro2131Ser) c.6388C>T (p.Pro2130Ser) | gnomAD v4 |
2 | g.71686482C>A | CA347227907 | DYSF | c.3764C>A (p.Pro1255His) c.2981C>A (p.Pro994His) c.3089C>A (p.Pro1030His) c.6233C>A (p.Pro2078His) c.6350C>A (p.Pro2117His) c.6236C>A (p.Pro2079His) c.6299C>A (p.Pro2100His) c.6347C>A (p.Pro2116His) c.6329C>A (p.Pro2110His) c.6257C>A (p.Pro2086His) c.6284C>A (p.Pro2095His) c.6287C>A (p.Pro2096His) c.6326C>A (p.Pro2109His) c.6296C>A (p.Pro2099His) n.3118C>A c.6191C>A (p.Pro2064His) c.6254C>A (p.Pro2085His) c.6194C>A (p.Pro2065His) c.6392C>A (p.Pro2131His) c.6389C>A (p.Pro2130His) | |
2 | g.71686482C= | CA1260160354 | DYSF | c.3764C= (p.Pro1255=) c.2981C= (p.Pro994=) c.3089C= (p.Pro1030=) c.6233C= (p.Pro2078=) c.6350C= (p.Pro2117=) c.6236C= (p.Pro2079=) c.6299C= (p.Pro2100=) c.6347C= (p.Pro2116=) c.6329C= (p.Pro2110=) c.6257C= (p.Pro2086=) c.6284C= (p.Pro2095=) c.6287C= (p.Pro2096=) c.6326C= (p.Pro2109=) c.6296C= (p.Pro2099=) n.3118C= c.6191C= (p.Pro2064=) c.6254C= (p.Pro2085=) c.6194C= (p.Pro2065=) c.6392C= (p.Pro2131=) c.6389C= (p.Pro2130=) | |
2 | g.71686482C>G | CA347227908 | DYSF | c.3764C>G (p.Pro1255Arg) c.2981C>G (p.Pro994Arg) c.3089C>G (p.Pro1030Arg) c.6233C>G (p.Pro2078Arg) c.6350C>G (p.Pro2117Arg) c.6236C>G (p.Pro2079Arg) c.6299C>G (p.Pro2100Arg) c.6347C>G (p.Pro2116Arg) c.6329C>G (p.Pro2110Arg) c.6257C>G (p.Pro2086Arg) c.6284C>G (p.Pro2095Arg) c.6287C>G (p.Pro2096Arg) c.6326C>G (p.Pro2109Arg) c.6296C>G (p.Pro2099Arg) n.3118C>G c.6191C>G (p.Pro2064Arg) c.6254C>G (p.Pro2085Arg) c.6194C>G (p.Pro2065Arg) c.6392C>G (p.Pro2131Arg) c.6389C>G (p.Pro2130Arg) | |
2 | g.71686482C>T | CA347227906 | DYSF | c.3764C>T (p.Pro1255Leu) c.2981C>T (p.Pro994Leu) c.3089C>T (p.Pro1030Leu) c.6233C>T (p.Pro2078Leu) c.6350C>T (p.Pro2117Leu) c.6236C>T (p.Pro2079Leu) c.6299C>T (p.Pro2100Leu) c.6347C>T (p.Pro2116Leu) c.6329C>T (p.Pro2110Leu) c.6257C>T (p.Pro2086Leu) c.6284C>T (p.Pro2095Leu) c.6287C>T (p.Pro2096Leu) c.6326C>T (p.Pro2109Leu) c.6296C>T (p.Pro2099Leu) n.3118C>T c.6191C>T (p.Pro2064Leu) c.6254C>T (p.Pro2085Leu) c.6194C>T (p.Pro2065Leu) c.6392C>T (p.Pro2131Leu) c.6389C>T (p.Pro2130Leu) | dbSNP gnomAD v4 |
2 | g.71686483C>A | CA426705053 | DYSF | c.3765C>A (p.Pro1255=) c.2982C>A (p.Pro994=) c.3090C>A (p.Pro1030=) c.6234C>A (p.Pro2078=) c.6351C>A (p.Pro2117=) c.6237C>A (p.Pro2079=) c.6300C>A (p.Pro2100=) c.6348C>A (p.Pro2116=) c.6330C>A (p.Pro2110=) c.6258C>A (p.Pro2086=) c.6285C>A (p.Pro2095=) c.6288C>A (p.Pro2096=) c.6327C>A (p.Pro2109=) c.6297C>A (p.Pro2099=) n.3119C>A c.6192C>A (p.Pro2064=) c.6255C>A (p.Pro2085=) c.6195C>A (p.Pro2065=) c.6393C>A (p.Pro2131=) c.6390C>A (p.Pro2130=) | |
2 | g.71686483C= | CA1260160355 | DYSF | c.3765C= (p.Pro1255=) c.2982C= (p.Pro994=) c.3090C= (p.Pro1030=) c.6234C= (p.Pro2078=) c.6351C= (p.Pro2117=) c.6237C= (p.Pro2079=) c.6300C= (p.Pro2100=) c.6348C= (p.Pro2116=) c.6330C= (p.Pro2110=) c.6258C= (p.Pro2086=) c.6285C= (p.Pro2095=) c.6288C= (p.Pro2096=) c.6327C= (p.Pro2109=) c.6297C= (p.Pro2099=) n.3119C= c.6192C= (p.Pro2064=) c.6255C= (p.Pro2085=) c.6195C= (p.Pro2065=) c.6393C= (p.Pro2131=) c.6390C= (p.Pro2130=) | |
2 | g.71686483C>G | CA426705051 | DYSF | c.3765C>G (p.Pro1255=) c.2982C>G (p.Pro994=) c.3090C>G (p.Pro1030=) c.6234C>G (p.Pro2078=) c.6351C>G (p.Pro2117=) c.6237C>G (p.Pro2079=) c.6300C>G (p.Pro2100=) c.6348C>G (p.Pro2116=) c.6330C>G (p.Pro2110=) c.6258C>G (p.Pro2086=) c.6285C>G (p.Pro2095=) c.6288C>G (p.Pro2096=) c.6327C>G (p.Pro2109=) c.6297C>G (p.Pro2099=) n.3119C>G c.6192C>G (p.Pro2064=) c.6255C>G (p.Pro2085=) c.6195C>G (p.Pro2065=) c.6393C>G (p.Pro2131=) c.6390C>G (p.Pro2130=) | |
2 | g.71686483C>T | CA426705052 | DYSF | c.3765C>T (p.Pro1255=) c.2982C>T (p.Pro994=) c.3090C>T (p.Pro1030=) c.6234C>T (p.Pro2078=) c.6351C>T (p.Pro2117=) c.6237C>T (p.Pro2079=) c.6300C>T (p.Pro2100=) c.6348C>T (p.Pro2116=) c.6330C>T (p.Pro2110=) c.6258C>T (p.Pro2086=) c.6285C>T (p.Pro2095=) c.6288C>T (p.Pro2096=) c.6327C>T (p.Pro2109=) c.6297C>T (p.Pro2099=) n.3119C>T c.6192C>T (p.Pro2064=) c.6255C>T (p.Pro2085=) c.6195C>T (p.Pro2065=) c.6393C>T (p.Pro2131=) c.6390C>T (p.Pro2130=) | ClinVar dbSNP |
2 | g.71686484T>A | CA347227909 | DYSF | c.3766T>A (p.Phe1256Ile) c.2983T>A (p.Phe995Ile) c.3091T>A (p.Phe1031Ile) c.6235T>A (p.Phe2079Ile) c.6352T>A (p.Phe2118Ile) c.6238T>A (p.Phe2080Ile) c.6301T>A (p.Phe2101Ile) c.6349T>A (p.Phe2117Ile) c.6331T>A (p.Phe2111Ile) c.6259T>A (p.Phe2087Ile) c.6286T>A (p.Phe2096Ile) c.6289T>A (p.Phe2097Ile) c.6328T>A (p.Phe2110Ile) c.6298T>A (p.Phe2100Ile) n.3120T>A c.6193T>A (p.Phe2065Ile) c.6256T>A (p.Phe2086Ile) c.6196T>A (p.Phe2066Ile) c.6394T>A (p.Phe2132Ile) c.6391T>A (p.Phe2131Ile) | |
2 | g.71686484T>C | CA347227910 | DYSF | c.3766T>C (p.Phe1256Leu) c.2983T>C (p.Phe995Leu) c.3091T>C (p.Phe1031Leu) c.6235T>C (p.Phe2079Leu) c.6352T>C (p.Phe2118Leu) c.6238T>C (p.Phe2080Leu) c.6301T>C (p.Phe2101Leu) c.6349T>C (p.Phe2117Leu) c.6331T>C (p.Phe2111Leu) c.6259T>C (p.Phe2087Leu) c.6286T>C (p.Phe2096Leu) c.6289T>C (p.Phe2097Leu) c.6328T>C (p.Phe2110Leu) c.6298T>C (p.Phe2100Leu) n.3120T>C c.6193T>C (p.Phe2065Leu) c.6256T>C (p.Phe2086Leu) c.6196T>C (p.Phe2066Leu) c.6394T>C (p.Phe2132Leu) c.6391T>C (p.Phe2131Leu) | |
2 | g.71686484T>G | CA1707698 | DYSF | c.3766T>G (p.Phe1256Val) c.2983T>G (p.Phe995Val) c.3091T>G (p.Phe1031Val) c.6235T>G (p.Phe2079Val) c.6352T>G (p.Phe2118Val) c.6238T>G (p.Phe2080Val) c.6301T>G (p.Phe2101Val) c.6349T>G (p.Phe2117Val) c.6331T>G (p.Phe2111Val) c.6259T>G (p.Phe2087Val) c.6286T>G (p.Phe2096Val) c.6289T>G (p.Phe2097Val) c.6328T>G (p.Phe2110Val) c.6298T>G (p.Phe2100Val) n.3120T>G c.6193T>G (p.Phe2065Val) c.6256T>G (p.Phe2086Val) c.6196T>G (p.Phe2066Val) c.6394T>G (p.Phe2132Val) c.6391T>G (p.Phe2131Val) | dbSNP ExAC gnomAD v2 |
2 | g.71686484T= | CA1260160356 | DYSF | c.3766T= (p.Phe1256=) c.2983T= (p.Phe995=) c.3091T= (p.Phe1031=) c.6235T= (p.Phe2079=) c.6352T= (p.Phe2118=) c.6238T= (p.Phe2080=) c.6301T= (p.Phe2101=) c.6349T= (p.Phe2117=) c.6331T= (p.Phe2111=) c.6259T= (p.Phe2087=) c.6286T= (p.Phe2096=) c.6289T= (p.Phe2097=) c.6328T= (p.Phe2110=) c.6298T= (p.Phe2100=) n.3120T= c.6193T= (p.Phe2065=) c.6256T= (p.Phe2086=) c.6196T= (p.Phe2066=) c.6394T= (p.Phe2132=) c.6391T= (p.Phe2131=) | |
2 | g.71686485T>A | CA347227911 | DYSF | c.3767T>A (p.Phe1256Tyr) c.2984T>A (p.Phe995Tyr) c.3092T>A (p.Phe1031Tyr) c.6236T>A (p.Phe2079Tyr) c.6353T>A (p.Phe2118Tyr) c.6239T>A (p.Phe2080Tyr) c.6302T>A (p.Phe2101Tyr) c.6350T>A (p.Phe2117Tyr) c.6332T>A (p.Phe2111Tyr) c.6260T>A (p.Phe2087Tyr) c.6287T>A (p.Phe2096Tyr) c.6290T>A (p.Phe2097Tyr) c.6329T>A (p.Phe2110Tyr) c.6299T>A (p.Phe2100Tyr) n.3121T>A c.6194T>A (p.Phe2065Tyr) c.6257T>A (p.Phe2086Tyr) c.6197T>A (p.Phe2066Tyr) c.6395T>A (p.Phe2132Tyr) c.6392T>A (p.Phe2131Tyr) | |
2 | g.71686485T>C | CA347227912 | DYSF | c.3767T>C (p.Phe1256Ser) c.2984T>C (p.Phe995Ser) c.3092T>C (p.Phe1031Ser) c.6236T>C (p.Phe2079Ser) c.6353T>C (p.Phe2118Ser) c.6239T>C (p.Phe2080Ser) c.6302T>C (p.Phe2101Ser) c.6350T>C (p.Phe2117Ser) c.6332T>C (p.Phe2111Ser) c.6260T>C (p.Phe2087Ser) c.6287T>C (p.Phe2096Ser) c.6290T>C (p.Phe2097Ser) c.6329T>C (p.Phe2110Ser) c.6299T>C (p.Phe2100Ser) n.3121T>C c.6194T>C (p.Phe2065Ser) c.6257T>C (p.Phe2086Ser) c.6197T>C (p.Phe2066Ser) c.6395T>C (p.Phe2132Ser) c.6392T>C (p.Phe2131Ser) | |
2 | g.71686485T>G | CA347227913 | DYSF | c.3767T>G (p.Phe1256Cys) c.2984T>G (p.Phe995Cys) c.3092T>G (p.Phe1031Cys) c.6236T>G (p.Phe2079Cys) c.6353T>G (p.Phe2118Cys) c.6239T>G (p.Phe2080Cys) c.6302T>G (p.Phe2101Cys) c.6350T>G (p.Phe2117Cys) c.6332T>G (p.Phe2111Cys) c.6260T>G (p.Phe2087Cys) c.6287T>G (p.Phe2096Cys) c.6290T>G (p.Phe2097Cys) c.6329T>G (p.Phe2110Cys) c.6299T>G (p.Phe2100Cys) n.3121T>G c.6194T>G (p.Phe2065Cys) c.6257T>G (p.Phe2086Cys) c.6197T>G (p.Phe2066Cys) c.6395T>G (p.Phe2132Cys) c.6392T>G (p.Phe2131Cys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71686485T= | CA1260160357 | DYSF | c.3767T= (p.Phe1256=) c.2984T= (p.Phe995=) c.3092T= (p.Phe1031=) c.6236T= (p.Phe2079=) c.6353T= (p.Phe2118=) c.6239T= (p.Phe2080=) c.6302T= (p.Phe2101=) c.6350T= (p.Phe2117=) c.6332T= (p.Phe2111=) c.6260T= (p.Phe2087=) c.6287T= (p.Phe2096=) c.6290T= (p.Phe2097=) c.6329T= (p.Phe2110=) c.6299T= (p.Phe2100=) n.3121T= c.6194T= (p.Phe2065=) c.6257T= (p.Phe2086=) c.6197T= (p.Phe2066=) c.6395T= (p.Phe2132=) c.6392T= (p.Phe2131=) | |
2 | g.71686486C>A | CA347227914 | DYSF | c.3768C>A (p.Phe1256Leu) c.2985C>A (p.Phe995Leu) c.3093C>A (p.Phe1031Leu) c.6237C>A (p.Phe2079Leu) c.6354C>A (p.Phe2118Leu) c.6240C>A (p.Phe2080Leu) c.6303C>A (p.Phe2101Leu) c.6351C>A (p.Phe2117Leu) c.6333C>A (p.Phe2111Leu) c.6261C>A (p.Phe2087Leu) c.6288C>A (p.Phe2096Leu) c.6291C>A (p.Phe2097Leu) c.6330C>A (p.Phe2110Leu) c.6300C>A (p.Phe2100Leu) n.3122C>A c.6195C>A (p.Phe2065Leu) c.6258C>A (p.Phe2086Leu) c.6198C>A (p.Phe2066Leu) c.6396C>A (p.Phe2132Leu) c.6393C>A (p.Phe2131Leu) | |
2 | g.71686486C>G | CA347227915 | DYSF | c.3768C>G (p.Phe1256Leu) c.2985C>G (p.Phe995Leu) c.3093C>G (p.Phe1031Leu) c.6237C>G (p.Phe2079Leu) c.6354C>G (p.Phe2118Leu) c.6240C>G (p.Phe2080Leu) c.6303C>G (p.Phe2101Leu) c.6351C>G (p.Phe2117Leu) c.6333C>G (p.Phe2111Leu) c.6261C>G (p.Phe2087Leu) c.6288C>G (p.Phe2096Leu) c.6291C>G (p.Phe2097Leu) c.6330C>G (p.Phe2110Leu) c.6300C>G (p.Phe2100Leu) n.3122C>G c.6195C>G (p.Phe2065Leu) c.6258C>G (p.Phe2086Leu) c.6198C>G (p.Phe2066Leu) c.6396C>G (p.Phe2132Leu) c.6393C>G (p.Phe2131Leu) | |
2 | g.71686486C>T | CA426705054 | DYSF | c.3768C>T (p.Phe1256=) c.2985C>T (p.Phe995=) c.3093C>T (p.Phe1031=) c.6237C>T (p.Phe2079=) c.6354C>T (p.Phe2118=) c.6240C>T (p.Phe2080=) c.6303C>T (p.Phe2101=) c.6351C>T (p.Phe2117=) c.6333C>T (p.Phe2111=) c.6261C>T (p.Phe2087=) c.6288C>T (p.Phe2096=) c.6291C>T (p.Phe2097=) c.6330C>T (p.Phe2110=) c.6300C>T (p.Phe2100=) n.3122C>T c.6195C>T (p.Phe2065=) c.6258C>T (p.Phe2086=) c.6198C>T (p.Phe2066=) c.6396C>T (p.Phe2132=) c.6393C>T (p.Phe2131=) | COSMIC COSMIC |
2 | g.71686487A>C | CA347227916 | DYSF | c.3769A>C (p.Ser1257Arg) c.2986A>C (p.Ser996Arg) c.3094A>C (p.Ser1032Arg) c.6238A>C (p.Ser2080Arg) c.6355A>C (p.Ser2119Arg) c.6241A>C (p.Ser2081Arg) c.6304A>C (p.Ser2102Arg) c.6352A>C (p.Ser2118Arg) c.6334A>C (p.Ser2112Arg) c.6262A>C (p.Ser2088Arg) c.6289A>C (p.Ser2097Arg) c.6292A>C (p.Ser2098Arg) c.6331A>C (p.Ser2111Arg) c.6301A>C (p.Ser2101Arg) n.3123A>C c.6196A>C (p.Ser2066Arg) c.6259A>C (p.Ser2087Arg) c.6199A>C (p.Ser2067Arg) c.6397A>C (p.Ser2133Arg) c.6394A>C (p.Ser2132Arg) | |
2 | g.71686487A>G | CA347227917 | DYSF | c.3769A>G (p.Ser1257Gly) c.2986A>G (p.Ser996Gly) c.3094A>G (p.Ser1032Gly) c.6238A>G (p.Ser2080Gly) c.6355A>G (p.Ser2119Gly) c.6241A>G (p.Ser2081Gly) c.6304A>G (p.Ser2102Gly) c.6352A>G (p.Ser2118Gly) c.6334A>G (p.Ser2112Gly) c.6262A>G (p.Ser2088Gly) c.6289A>G (p.Ser2097Gly) c.6292A>G (p.Ser2098Gly) c.6331A>G (p.Ser2111Gly) c.6301A>G (p.Ser2101Gly) n.3123A>G c.6196A>G (p.Ser2066Gly) c.6259A>G (p.Ser2087Gly) c.6199A>G (p.Ser2067Gly) c.6397A>G (p.Ser2133Gly) c.6394A>G (p.Ser2132Gly) | gnomAD v4 |
2 | g.71686487A>T | CA347227918 | DYSF | c.3769A>T (p.Ser1257Cys) c.2986A>T (p.Ser996Cys) c.3094A>T (p.Ser1032Cys) c.6238A>T (p.Ser2080Cys) c.6355A>T (p.Ser2119Cys) c.6241A>T (p.Ser2081Cys) c.6304A>T (p.Ser2102Cys) c.6352A>T (p.Ser2118Cys) c.6334A>T (p.Ser2112Cys) c.6262A>T (p.Ser2088Cys) c.6289A>T (p.Ser2097Cys) c.6292A>T (p.Ser2098Cys) c.6331A>T (p.Ser2111Cys) c.6301A>T (p.Ser2101Cys) n.3123A>T c.6196A>T (p.Ser2066Cys) c.6259A>T (p.Ser2087Cys) c.6199A>T (p.Ser2067Cys) c.6397A>T (p.Ser2133Cys) c.6394A>T (p.Ser2132Cys) | |
2 | g.71686488G>A | CA347227919 | DYSF | c.3770G>A (p.Ser1257Asn) c.2987G>A (p.Ser996Asn) c.3095G>A (p.Ser1032Asn) c.6239G>A (p.Ser2080Asn) c.6356G>A (p.Ser2119Asn) c.6242G>A (p.Ser2081Asn) c.6305G>A (p.Ser2102Asn) c.6353G>A (p.Ser2118Asn) c.6335G>A (p.Ser2112Asn) c.6263G>A (p.Ser2088Asn) c.6290G>A (p.Ser2097Asn) c.6293G>A (p.Ser2098Asn) c.6332G>A (p.Ser2111Asn) c.6302G>A (p.Ser2101Asn) n.3124G>A c.6197G>A (p.Ser2066Asn) c.6260G>A (p.Ser2087Asn) c.6200G>A (p.Ser2067Asn) c.6398G>A (p.Ser2133Asn) c.6395G>A (p.Ser2132Asn) | |
2 | g.71686488G>C | CA347227920 | DYSF | c.3770G>C (p.Ser1257Thr) c.2987G>C (p.Ser996Thr) c.3095G>C (p.Ser1032Thr) c.6239G>C (p.Ser2080Thr) c.6356G>C (p.Ser2119Thr) c.6242G>C (p.Ser2081Thr) c.6305G>C (p.Ser2102Thr) c.6353G>C (p.Ser2118Thr) c.6335G>C (p.Ser2112Thr) c.6263G>C (p.Ser2088Thr) c.6290G>C (p.Ser2097Thr) c.6293G>C (p.Ser2098Thr) c.6332G>C (p.Ser2111Thr) c.6302G>C (p.Ser2101Thr) n.3124G>C c.6197G>C (p.Ser2066Thr) c.6260G>C (p.Ser2087Thr) c.6200G>C (p.Ser2067Thr) c.6398G>C (p.Ser2133Thr) c.6395G>C (p.Ser2132Thr) | |
2 | g.71686488G>T | CA347227921 | DYSF | c.3770G>T (p.Ser1257Ile) c.2987G>T (p.Ser996Ile) c.3095G>T (p.Ser1032Ile) c.6239G>T (p.Ser2080Ile) c.6356G>T (p.Ser2119Ile) c.6242G>T (p.Ser2081Ile) c.6305G>T (p.Ser2102Ile) c.6353G>T (p.Ser2118Ile) c.6335G>T (p.Ser2112Ile) c.6263G>T (p.Ser2088Ile) c.6290G>T (p.Ser2097Ile) c.6293G>T (p.Ser2098Ile) c.6332G>T (p.Ser2111Ile) c.6302G>T (p.Ser2101Ile) n.3124G>T c.6197G>T (p.Ser2066Ile) c.6260G>T (p.Ser2087Ile) c.6200G>T (p.Ser2067Ile) c.6398G>T (p.Ser2133Ile) c.6395G>T (p.Ser2132Ile) | |
2 | g.71686489C>A | CA347227922 | DYSF | c.3771C>A (p.Ser1257Arg) c.2988C>A (p.Ser996Arg) c.3096C>A (p.Ser1032Arg) c.6240C>A (p.Ser2080Arg) c.6357C>A (p.Ser2119Arg) c.6243C>A (p.Ser2081Arg) c.6306C>A (p.Ser2102Arg) c.6354C>A (p.Ser2118Arg) c.6336C>A (p.Ser2112Arg) c.6264C>A (p.Ser2088Arg) c.6291C>A (p.Ser2097Arg) c.6294C>A (p.Ser2098Arg) c.6333C>A (p.Ser2111Arg) c.6303C>A (p.Ser2101Arg) n.3125C>A c.6198C>A (p.Ser2066Arg) c.6261C>A (p.Ser2087Arg) c.6201C>A (p.Ser2067Arg) c.6399C>A (p.Ser2133Arg) c.6396C>A (p.Ser2132Arg) | |
2 | g.71686489C>G | CA347227924 | DYSF | c.3771C>G (p.Ser1257Arg) c.2988C>G (p.Ser996Arg) c.3096C>G (p.Ser1032Arg) c.6240C>G (p.Ser2080Arg) c.6357C>G (p.Ser2119Arg) c.6243C>G (p.Ser2081Arg) c.6306C>G (p.Ser2102Arg) c.6354C>G (p.Ser2118Arg) c.6336C>G (p.Ser2112Arg) c.6264C>G (p.Ser2088Arg) c.6291C>G (p.Ser2097Arg) c.6294C>G (p.Ser2098Arg) c.6333C>G (p.Ser2111Arg) c.6303C>G (p.Ser2101Arg) n.3125C>G c.6198C>G (p.Ser2066Arg) c.6261C>G (p.Ser2087Arg) c.6201C>G (p.Ser2067Arg) c.6399C>G (p.Ser2133Arg) c.6396C>G (p.Ser2132Arg) | |
2 | g.71686489C>T | CA426705055 | DYSF | c.3771C>T (p.Ser1257=) c.2988C>T (p.Ser996=) c.3096C>T (p.Ser1032=) c.6240C>T (p.Ser2080=) c.6357C>T (p.Ser2119=) c.6243C>T (p.Ser2081=) c.6306C>T (p.Ser2102=) c.6354C>T (p.Ser2118=) c.6336C>T (p.Ser2112=) c.6264C>T (p.Ser2088=) c.6291C>T (p.Ser2097=) c.6294C>T (p.Ser2098=) c.6333C>T (p.Ser2111=) c.6303C>T (p.Ser2101=) n.3125C>T c.6198C>T (p.Ser2066=) c.6261C>T (p.Ser2087=) c.6201C>T (p.Ser2067=) c.6399C>T (p.Ser2133=) c.6396C>T (p.Ser2132=) | |
2 | g.71686490T>A | CA347227925 | DYSF | c.3772T>A (p.Ter1258Arg) c.2989T>A (p.Ter997Arg) c.3097T>A (p.Ter1033Arg) c.6241T>A (p.Ter2081Arg) c.6358T>A (p.Ter2120Arg) c.6244T>A (p.Ter2082Arg) c.6307T>A (p.Ter2103Arg) c.6355T>A (p.Ter2119Arg) c.6337T>A (p.Ter2113Arg) c.6265T>A (p.Ter2089Arg) c.6292T>A (p.Ter2098Arg) c.6295T>A (p.Ter2099Arg) c.6334T>A (p.Ter2112Arg) c.6304T>A (p.Ter2102Arg) n.3126T>A c.6199T>A (p.Ter2067Arg) c.6262T>A (p.Ter2088Arg) c.6202T>A (p.Ter2068Arg) c.6400T>A (p.Ter2134Arg) c.6397T>A (p.Ter2133Arg) | |
2 | g.71686490T>C | CA347227927 | DYSF | c.3772T>C (p.Ter1258Arg) c.2989T>C (p.Ter997Arg) c.3097T>C (p.Ter1033Arg) c.6241T>C (p.Ter2081Arg) c.6358T>C (p.Ter2120Arg) c.6244T>C (p.Ter2082Arg) c.6307T>C (p.Ter2103Arg) c.6355T>C (p.Ter2119Arg) c.6337T>C (p.Ter2113Arg) c.6265T>C (p.Ter2089Arg) c.6292T>C (p.Ter2098Arg) c.6295T>C (p.Ter2099Arg) c.6334T>C (p.Ter2112Arg) c.6304T>C (p.Ter2102Arg) n.3126T>C c.6199T>C (p.Ter2067Arg) c.6262T>C (p.Ter2088Arg) c.6202T>C (p.Ter2068Arg) c.6400T>C (p.Ter2134Arg) c.6397T>C (p.Ter2133Arg) | |
2 | g.71686490T>G | CA347227929 | DYSF | c.3772T>G (p.Ter1258Gly) c.2989T>G (p.Ter997Gly) c.3097T>G (p.Ter1033Gly) c.6241T>G (p.Ter2081Gly) c.6358T>G (p.Ter2120Gly) c.6244T>G (p.Ter2082Gly) c.6307T>G (p.Ter2103Gly) c.6355T>G (p.Ter2119Gly) c.6337T>G (p.Ter2113Gly) c.6265T>G (p.Ter2089Gly) c.6292T>G (p.Ter2098Gly) c.6295T>G (p.Ter2099Gly) c.6334T>G (p.Ter2112Gly) c.6304T>G (p.Ter2102Gly) n.3126T>G c.6199T>G (p.Ter2067Gly) c.6262T>G (p.Ter2088Gly) c.6202T>G (p.Ter2068Gly) c.6400T>G (p.Ter2134Gly) c.6397T>G (p.Ter2133Gly) | ClinVar dbSNP |
2 | g.71686490T= | CA1260160358 | DYSF | c.3772T= (p.Ter1258=) c.2989T= (p.Ter997=) c.3097T= (p.Ter1033=) c.6241T= (p.Ter2081=) c.6358T= (p.Ter2120=) c.6244T= (p.Ter2082=) c.6307T= (p.Ter2103=) c.6355T= (p.Ter2119=) c.6337T= (p.Ter2113=) c.6265T= (p.Ter2089=) c.6292T= (p.Ter2098=) c.6295T= (p.Ter2099=) c.6334T= (p.Ter2112=) c.6304T= (p.Ter2102=) n.3126T= c.6199T= (p.Ter2067=) c.6262T= (p.Ter2088=) c.6202T= (p.Ter2068=) c.6400T= (p.Ter2134=) c.6397T= (p.Ter2133=) | |
2 | g.71686491G>A | CA1707699 | DYSF | c.3773G>A (p.Ter1258=) c.2990G>A (p.Ter997=) c.3098G>A (p.Ter1033=) c.6242G>A (p.Ter2081=) c.6359G>A (p.Ter2120=) c.6245G>A (p.Ter2082=) c.6308G>A (p.Ter2103=) c.6356G>A (p.Ter2119=) c.6338G>A (p.Ter2113=) c.6266G>A (p.Ter2089=) c.6293G>A (p.Ter2098=) c.6296G>A (p.Ter2099=) c.6335G>A (p.Ter2112=) c.6305G>A (p.Ter2102=) n.3127G>A c.6200G>A (p.Ter2067=) c.6263G>A (p.Ter2088=) c.6203G>A (p.Ter2068=) c.6401G>A (p.Ter2134=) c.6398G>A (p.Ter2133=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71686491G>C | CA347227931 | DYSF | c.3773G>C (p.Ter1258Ser) c.2990G>C (p.Ter997Ser) c.3098G>C (p.Ter1033Ser) c.6242G>C (p.Ter2081Ser) c.6359G>C (p.Ter2120Ser) c.6245G>C (p.Ter2082Ser) c.6308G>C (p.Ter2103Ser) c.6356G>C (p.Ter2119Ser) c.6338G>C (p.Ter2113Ser) c.6266G>C (p.Ter2089Ser) c.6293G>C (p.Ter2098Ser) c.6296G>C (p.Ter2099Ser) c.6335G>C (p.Ter2112Ser) c.6305G>C (p.Ter2102Ser) n.3127G>C c.6200G>C (p.Ter2067Ser) c.6263G>C (p.Ter2088Ser) c.6203G>C (p.Ter2068Ser) c.6401G>C (p.Ter2134Ser) c.6398G>C (p.Ter2133Ser) | |
2 | g.71686491G= | CA1260160359 | DYSF | c.3773G= (p.Ter1258=) c.2990G= (p.Ter997=) c.3098G= (p.Ter1033=) c.6242G= (p.Ter2081=) c.6359G= (p.Ter2120=) c.6245G= (p.Ter2082=) c.6308G= (p.Ter2103=) c.6356G= (p.Ter2119=) c.6338G= (p.Ter2113=) c.6266G= (p.Ter2089=) c.6293G= (p.Ter2098=) c.6296G= (p.Ter2099=) c.6335G= (p.Ter2112=) c.6305G= (p.Ter2102=) n.3127G= c.6200G= (p.Ter2067=) c.6263G= (p.Ter2088=) c.6203G= (p.Ter2068=) c.6401G= (p.Ter2134=) c.6398G= (p.Ter2133=) | |
2 | g.71686491G>T | CA347227933 | DYSF | c.3773G>T (p.Ter1258Leu) c.2990G>T (p.Ter997Leu) c.3098G>T (p.Ter1033Leu) c.6242G>T (p.Ter2081Leu) c.6359G>T (p.Ter2120Leu) c.6245G>T (p.Ter2082Leu) c.6308G>T (p.Ter2103Leu) c.6356G>T (p.Ter2119Leu) c.6338G>T (p.Ter2113Leu) c.6266G>T (p.Ter2089Leu) c.6293G>T (p.Ter2098Leu) c.6296G>T (p.Ter2099Leu) c.6335G>T (p.Ter2112Leu) c.6305G>T (p.Ter2102Leu) n.3127G>T c.6200G>T (p.Ter2067Leu) c.6263G>T (p.Ter2088Leu) c.6203G>T (p.Ter2068Leu) c.6401G>T (p.Ter2134Leu) c.6398G>T (p.Ter2133Leu) | |
2 | g.71686492A>C | CA347227935 | DYSF | c.3774A>C (p.Ter1258Cys) c.2991A>C (p.Ter997Cys) c.3099A>C (p.Ter1033Cys) c.6243A>C (p.Ter2081Cys) c.6360A>C (p.Ter2120Cys) c.6246A>C (p.Ter2082Cys) c.6309A>C (p.Ter2103Cys) c.6357A>C (p.Ter2119Cys) c.6339A>C (p.Ter2113Cys) c.6267A>C (p.Ter2089Cys) c.6294A>C (p.Ter2098Cys) c.6297A>C (p.Ter2099Cys) c.6336A>C (p.Ter2112Cys) c.6306A>C (p.Ter2102Cys) n.3128A>C c.6201A>C (p.Ter2067Cys) c.6264A>C (p.Ter2088Cys) c.6204A>C (p.Ter2068Cys) c.6402A>C (p.Ter2134Cys) c.6399A>C (p.Ter2133Cys) | |
2 | g.71686492A>G | CA347227937 | DYSF | c.3774A>G (p.Ter1258Trp) c.2991A>G (p.Ter997Trp) c.3099A>G (p.Ter1033Trp) c.6243A>G (p.Ter2081Trp) c.6360A>G (p.Ter2120Trp) c.6246A>G (p.Ter2082Trp) c.6309A>G (p.Ter2103Trp) c.6357A>G (p.Ter2119Trp) c.6339A>G (p.Ter2113Trp) c.6267A>G (p.Ter2089Trp) c.6294A>G (p.Ter2098Trp) c.6297A>G (p.Ter2099Trp) c.6336A>G (p.Ter2112Trp) c.6306A>G (p.Ter2102Trp) n.3128A>G c.6201A>G (p.Ter2067Trp) c.6264A>G (p.Ter2088Trp) c.6204A>G (p.Ter2068Trp) c.6402A>G (p.Ter2134Trp) c.6399A>G (p.Ter2133Trp) | |
2 | g.71686492A>T | CA347227938 | DYSF | c.3774A>T (p.Ter1258Cys) c.2991A>T (p.Ter997Cys) c.3099A>T (p.Ter1033Cys) c.6243A>T (p.Ter2081Cys) c.6360A>T (p.Ter2120Cys) c.6246A>T (p.Ter2082Cys) c.6309A>T (p.Ter2103Cys) c.6357A>T (p.Ter2119Cys) c.6339A>T (p.Ter2113Cys) c.6267A>T (p.Ter2089Cys) c.6294A>T (p.Ter2098Cys) c.6297A>T (p.Ter2099Cys) c.6336A>T (p.Ter2112Cys) c.6306A>T (p.Ter2102Cys) n.3128A>T c.6201A>T (p.Ter2067Cys) c.6264A>T (p.Ter2088Cys) c.6204A>T (p.Ter2068Cys) c.6402A>T (p.Ter2134Cys) c.6399A>T (p.Ter2133Cys) | |
2 | g.71686493G>A | CA2577000995 | DYSF | c.3775G>A (n.3775G>A) c.*1G>A (n.*1G>A) n.3129G>A | |
2 | g.71686494G>A | CA2659556535 | DYSF | c.3776G>A (n.3776G>A) c.*2G>A (n.*2G>A) n.3130G>A | gnomAD v4 |
2 | g.71686495A>C | CA2659556536 | DYSF | c.3777A>C (n.3777A>C) c.*3A>C (n.*3A>C) n.3131A>C | gnomAD v4 |
2 | g.71686495A>T | CA2840635897 | DYSF | c.3777A>T (n.3777A>T) c.*3A>T (n.*3A>T) n.3131A>T | |
2 | g.71686496C= | CA1260160360 | DYSF | c.3778C= (n.3778C=) c.*4C= (n.*4C=) n.3132C= | |
2 | g.71686496C>T | CA533267569 | DYSF | c.3778C>T (n.3778C>T) c.*4C>T (n.*4C>T) n.3132C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71686498C= | CA1260160361 | DYSF | c.3780C= (n.3780C=) c.*6C= (n.*6C=) n.3134C= | |
2 | g.71686498C>G | CA1707700 | DYSF | c.3780C>G (n.3780C>G) c.*6C>G (n.*6C>G) n.3134C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71686500C= | CA1260160362 | DYSF | c.3782C= (n.3782C=) c.*8C= (n.*8C=) n.3136C= | |
2 | g.71686500C>G | CA892689391 | DYSF | c.3782C>G (n.3782C>G) c.*8C>G (n.*8C>G) n.3136C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71686501C>A | CA2840635898 | DYSF | c.3783C>A (n.3783C>A) c.*9C>A (n.*9C>A) n.3137C>A | |
2 | g.71686501C= | CA1260160363 | DYSF | c.3783C= (n.3783C=) c.*9C= (n.*9C=) n.3137C= | |
2 | g.71686501C>G | CA1139657092 | DYSF | c.3783C>G (n.3783C>G) c.*9C>G (n.*9C>G) n.3137C>G | ClinVar dbSNP |
2 | g.71686501C>T | CA2838665270 | DYSF | c.3783C>T (n.3783C>T) c.*9C>T (n.*9C>T) n.3137C>T | |
2 | g.71686502T>A | CA2659556537 | DYSF | c.3784T>A (n.3784T>A) c.*10T>A (n.*10T>A) n.3138T>A | gnomAD v4 |
2 | g.71686503G>A | CA1260160365 | DYSF | c.3785G>A (n.3785G>A) c.*11G>A (n.*11G>A) n.3139G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71686503G= | CA1260160364 | DYSF | c.3785G= (n.3785G=) c.*11G= (n.*11G=) n.3139G= | |
2 | g.71686503G>T | CA2840635899 | DYSF | c.3785G>T (n.3785G>T) c.*11G>T (n.*11G>T) n.3139G>T | |
2 | g.71686504C>T | CA2659556538 | DYSF | c.3786C>T (n.3786C>T) c.*12C>T (n.*12C>T) n.3140C>T | gnomAD v4 |
2 | g.71686506C>T | CA2577000996 | DYSF | c.3788C>T (n.3788C>T) c.*14C>T (n.*14C>T) n.3142C>T | gnomAD v4 |
2 | g.71686507T>C | CA1707701 | DYSF | c.3789T>C (n.3789T>C) c.*15T>C (n.*15T>C) n.3143T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71686507T= | CA1260160366 | DYSF | c.3789T= (n.3789T=) c.*15T= (n.*15T=) n.3143T= | |
2 | g.71686508G>A | CA2659556539 | DYSF | c.3790G>A (n.3790G>A) c.*16G>A (n.*16G>A) n.3144G>A | gnomAD v4 |
2 | g.71686508G>T | CA2659556540 | DYSF | c.3790G>T (n.3790G>T) c.*16G>T (n.*16G>T) n.3144G>T | gnomAD v4 |
2 | g.71686509T>C | CA1707702 | DYSF | c.3791T>C (n.3791T>C) c.*17T>C (n.*17T>C) n.3145T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71686509T= | CA1260160367 | DYSF | c.3791T= (n.3791T=) c.*17T= (n.*17T=) n.3145T= | |
2 | g.71686510A= | CA1260160368 | DYSF | c.3792A= (n.3792A=) c.*18A= (n.*18A=) n.3146A= | |
2 | g.71686510A>G | CA16604380 | DYSF | c.3792A>G (n.3792A>G) c.*18A>G (n.*18A>G) n.3146A>G | ClinVar dbSNP |
2 | g.71686510A>T | CA2838383848 | DYSF | c.3792A>T (n.3792A>T) c.*18A>T (n.*18A>T) n.3146A>T | |
2 | g.71686511G>T | CA2839735448 | DYSF | c.3793G>T (n.3793G>T) c.*19G>T (n.*19G>T) n.3147G>T | |
2 | g.71686514G>T | CA2838665282 | DYSF | c.3796G>T (n.3796G>T) c.*22G>T (n.*22G>T) n.3150G>T | |
2 | g.71686517G>A | CA2577000997 | DYSF | c.3799G>A (n.3799G>A) c.*25G>A (n.*25G>A) n.3153G>A | gnomAD v4 |
2 | g.71686517G>T | CA2659556541 | DYSF | c.3799G>T (n.3799G>T) c.*25G>T (n.*25G>T) n.3153G>T | gnomAD v4 |
2 | g.71686518C>G | CA2699654263 | DYSF | c.3800C>G (n.3800C>G) c.*26C>G (n.*26C>G) n.3154C>G | dbSNP |
2 | g.71686519C= | CA1260160369 | DYSF | c.3801C= (n.3801C=) c.*27C= (n.*27C=) n.3155C= | |
2 | g.71686519C>T | CA1707703 | DYSF | c.3801C>T (n.3801C>T) c.*27C>T (n.*27C>T) n.3155C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71686520G>A | CA1707704 | DYSF | c.3802G>A (n.3802G>A) c.*28G>A (n.*28G>A) n.3156G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71686520G= | CA1260160370 | DYSF | c.3802G= (n.3802G=) c.*28G= (n.*28G=) n.3156G= | |
2 | g.71686521T>C | CA2839735449 | DYSF | c.3803T>C (n.3803T>C) c.*29T>C (n.*29T>C) n.3157T>C | |
2 | g.71686522G>T | CA2529892135 | DYSF | c.3804G>T (n.3804G>T) c.*30G>T (n.*30G>T) n.3158G>T | |
2 | g.71686525del | CA2577000998 | DYSF | c.3807del (n.3807del) c.*33del (n.*33del) n.3161del | |
2 | g.71686523G>C | CA1707705 | DYSF | c.3805G>C (n.3805G>C) c.*31G>C (n.*31G>C) n.3159G>C | dbSNP ExAC gnomAD v4 |
2 | g.71686523G= | CA1260160371 | DYSF | c.3805G= (n.3805G=) c.*31G= (n.*31G=) n.3159G= | |
2 | g.71686523G>T | CA49779692 | DYSF | c.3805G>T (n.3805G>T) c.*31G>T (n.*31G>T) n.3159G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71686524G>A | CA2659556542 | DYSF | c.3806G>A (n.3806G>A) c.*32G>A (n.*32G>A) n.3160G>A | gnomAD v4 |
2 | g.71686524G>T | CA2577000999 | DYSF | c.3806G>T (n.3806G>T) c.*32G>T (n.*32G>T) n.3160G>T | |
2 | g.71686525G>A | CA2659556543 | DYSF | c.3807G>A (n.3807G>A) c.*33G>A (n.*33G>A) n.3161G>A | gnomAD v4 |
2 | g.71686525G>T | CA2750418019 | DYSF | c.3807G>T (n.3807G>T) c.*33G>T (n.*33G>T) n.3161G>T | |
2 | g.71686527C>T | CA2838383845 | DYSF | c.3809C>T (n.3809C>T) c.*35C>T (n.*35C>T) n.3163C>T | |
2 | g.71686528C= | CA1260160372 | DYSF | c.3810C= (n.3810C=) c.*36C= (n.*36C=) n.3164C= | |
2 | g.71686528C>T | CA533267574 | DYSF | c.3810C>T (n.3810C>T) c.*36C>T (n.*36C>T) n.3164C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71686529C>A | CA2839460966 | DYSF | c.3811C>A (n.3811C>A) c.*37C>A (n.*37C>A) n.3165C>A | |
2 | g.71686530C>A | CA2659556544 | DYSF | c.3812C>A (n.3812C>A) c.*38C>A (n.*38C>A) n.3166C>A | gnomAD v4 |
2 | g.71686530C= | CA1260160373 | DYSF | c.3812C= (n.3812C=) c.*38C= (n.*38C=) n.3166C= | |
2 | g.71686530C>G | CA2840635900 | DYSF | c.3812C>G (n.3812C>G) c.*38C>G (n.*38C>G) n.3166C>G | |
2 | g.71686530C>T | CA1260160374 | DYSF | c.3812C>T (n.3812C>T) c.*38C>T (n.*38C>T) n.3166C>T | dbSNP gnomAD v4 |