Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71686428G>ACA892689291DYSFc.3736-26G>A (n.3736-26G>A)
c.2953-26G>A (n.2953-26G>A)
c.3061-26G>A (n.3061-26G>A)
c.6205-26G>A (n.6205-26G>A)
c.6322-26G>A (n.6322-26G>A)
c.6208-26G>A (n.6208-26G>A)
c.6271-26G>A (n.6271-26G>A)
c.6319-26G>A (n.6319-26G>A)
c.6301-26G>A (n.6301-26G>A)
c.6229-26G>A (n.6229-26G>A)
c.6256-26G>A (n.6256-26G>A)
c.6259-26G>A (n.6259-26G>A)
c.6298-26G>A (n.6298-26G>A)
c.6268-26G>A (n.6268-26G>A)
n.3090-26G>A
c.6163-26G>A (n.6163-26G>A)
c.6226-26G>A (n.6226-26G>A)
c.6166-26G>A (n.6166-26G>A)
c.6364-26G>A (n.6364-26G>A)
c.6361-26G>A (n.6361-26G>A)
 dbSNP gnomAD v4
2g.71686428G=CA1260160324DYSFc.3736-26G= (n.3736-26G=)
c.2953-26G= (n.2953-26G=)
c.3061-26G= (n.3061-26G=)
c.6205-26G= (n.6205-26G=)
c.6322-26G= (n.6322-26G=)
c.6208-26G= (n.6208-26G=)
c.6271-26G= (n.6271-26G=)
c.6319-26G= (n.6319-26G=)
c.6301-26G= (n.6301-26G=)
c.6229-26G= (n.6229-26G=)
c.6256-26G= (n.6256-26G=)
c.6259-26G= (n.6259-26G=)
c.6298-26G= (n.6298-26G=)
c.6268-26G= (n.6268-26G=)
n.3090-26G=
c.6163-26G= (n.6163-26G=)
c.6226-26G= (n.6226-26G=)
c.6166-26G= (n.6166-26G=)
c.6364-26G= (n.6364-26G=)
c.6361-26G= (n.6361-26G=)
2g.71686428G>TCA1707683DYSFc.3736-26G>T (n.3736-26G>T)
c.2953-26G>T (n.2953-26G>T)
c.3061-26G>T (n.3061-26G>T)
c.6205-26G>T (n.6205-26G>T)
c.6322-26G>T (n.6322-26G>T)
c.6208-26G>T (n.6208-26G>T)
c.6271-26G>T (n.6271-26G>T)
c.6319-26G>T (n.6319-26G>T)
c.6301-26G>T (n.6301-26G>T)
c.6229-26G>T (n.6229-26G>T)
c.6256-26G>T (n.6256-26G>T)
c.6259-26G>T (n.6259-26G>T)
c.6298-26G>T (n.6298-26G>T)
c.6268-26G>T (n.6268-26G>T)
n.3090-26G>T
c.6163-26G>T (n.6163-26G>T)
c.6226-26G>T (n.6226-26G>T)
c.6166-26G>T (n.6166-26G>T)
c.6364-26G>T (n.6364-26G>T)
c.6361-26G>T (n.6361-26G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71686430T>CCA1032079912DYSFc.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
2g.71686430T>GCA2659556525DYSFc.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
2g.71686430T=CA1260160325DYSFc.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=)
2g.71686432C>ACA2659556526DYSFc.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
2g.71686432C=CA1260160326DYSFc.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=)
2g.71686432C>GCA1032079913DYSFc.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
2g.71686433C>TCA2659556527DYSFc.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
2g.71686434T>ACA2659556528DYSFc.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
2g.71686435G>CCA2659556529DYSFc.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
2g.71686435G=CA1260160327DYSFc.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=)
2g.71686435G>TCA1707684DYSFc.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
2g.71686436T>ACA533267556DYSFc.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
2g.71686436T=CA1260160328DYSFc.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=)
2g.71686437C>ACA2659556530DYSFc.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
2g.71686437C>TCA2659556531DYSFc.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
2g.71686438T=CA1260160329DYSFc.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=)
2g.71686439C=CA1260160330DYSFc.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=)
2g.71686439C>GCA2697548265DYSFc.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
2g.71686439C>TCA1707685DYSFc.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
2g.71686448_71686451dupCA892689299DYSFc.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
2g.71686440C=CA1260160331DYSFc.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=)
2g.71686440C>TCA1707686DYSFc.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
2g.71686442C=CA1260160332DYSFc.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=)
2g.71686442C>GCA1707687DYSFc.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
2g.71686442C>TCA2750417999DYSFc.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)
2g.71686443C>ACA533267558DYSFc.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
2g.71686443C=CA1260160333DYSFc.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=)
2g.71686443C>TCA2659556532DYSFc.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
2g.71686444C=CA1260160334DYSFc.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=)
2g.71686444C>GCA1707688DYSFc.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
2g.71686444C>TCA2659556533DYSFc.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
2g.71686446C=CA1260160335DYSFc.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=)
2g.71686446C>TCA1707689DYSFc.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
2g.71686447C=CA1260160336DYSFc.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=)
2g.71686447C>TCA1707690DYSFc.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
2g.71686448C>ACA1707691DYSFc.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
2g.71686448C=CA1260160337DYSFc.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=)
2g.71686450C=CA1260160338DYSFc.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=)
2g.71686450C>TCA1707692DYSFc.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
2g.71686452A=CA1260160339DYSFc.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=)
2g.71686452A>CCA347227839DYSFc.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)
2g.71686452A>GCA1707693DYSFc.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
2g.71686452A>TCA347227838DYSFc.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)
2g.71686453G>ACA347227840DYSFc.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)
2g.71686453G>CCA347227841DYSFc.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)
2g.71686453G>TCA347227842DYSFc.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)
2g.71686454A>CCA347227843DYSFc.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)
2g.71686454A>GCA347227844DYSFc.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)
2g.71686454A>TCA347227845DYSFc.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)
2g.71686455A=CA1260160340DYSFc.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=)
2g.71686455A>CCA347227846DYSFc.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
2g.71686455A>GCA347227847DYSFc.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
2g.71686455A>TCA347227848DYSFc.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)
2g.71686456delCA2586969383DYSFc.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
2g.71686456C>ACA347227849DYSFc.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)
2g.71686456C=CA1260160341DYSFc.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=)
2g.71686456C>GCA347227850DYSFc.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)
2g.71686456C>TCA426705035DYSFc.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
2g.71686457T>ACA347227852DYSFc.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)
2g.71686457T>CCA347227853DYSFc.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)
2g.71686457T>GCA347227851DYSFc.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)
2g.71686458A=CA1260160342DYSFc.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=)
2g.71686458A>CCA347227854DYSFc.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)
2g.71686458A>GCA1707694DYSFc.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
2g.71686458A>TCA347227855DYSFc.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)
2g.71686459T>ACA347227856DYSFc.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)
2g.71686459T>CCA426705036DYSFc.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
2g.71686459T>GCA347227857DYSFc.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)
2g.71686459T=CA1260160343DYSFc.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=)
2g.71686460G>ACA347227858DYSFc.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)
2g.71686460G>CCA347227859DYSFc.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)
2g.71686460G>TCA347227860DYSFc.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)
2g.71686460_71686461delinsGCCA1260160344DYSFc.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=)
2g.71686461delCA10604963DYSFc.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
2g.71686461C>ACA347227861DYSFc.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)
2g.71686461C=CA1260160345DYSFc.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=)
2g.71686461C>GCA347227862DYSFc.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)
2g.71686461C>TCA1707695DYSFc.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
2g.71686462T>ACA426705038DYSFc.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=)
2g.71686462T>CCA426705037DYSFc.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
2g.71686462T>GCA426705039DYSFc.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=)
2g.71686463G>ACA347227865DYSFc.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)
2g.71686463G>CCA347227863DYSFc.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)
2g.71686463G>TCA347227864DYSFc.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)
2g.71686463_71686464delinsGCCA1260160346DYSFc.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=)
2g.71686464C>ACA347227866DYSFc.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)
2g.71686464C=CA1260160347DYSFc.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=)
2g.71686464C>GCA347227867DYSFc.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)
2g.71686464C>TCA1707696DYSFc.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
2g.71686465delCA10606074DYSFc.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
2g.71686465C>ACA426705040DYSFc.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=)
2g.71686465C>GCA426705041DYSFc.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=)
2g.71686465C>TCA426705042DYSFc.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
2g.71686466A>CCA347227868DYSFc.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)
2g.71686466A>GCA347227869DYSFc.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
2g.71686466A>TCA347227870DYSFc.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
2g.71686467T>ACA347227871DYSFc.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)
2g.71686467T>CCA347227872DYSFc.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
2g.71686467T>GCA347227873DYSFc.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
2g.71686468G>ACA347227874DYSFc.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)
2g.71686468G>CCA347227875DYSFc.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)
2g.71686468G>TCA347227876DYSFc.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)
2g.71686469A>CCA347227878DYSFc.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)
2g.71686469A>GCA347227879DYSFc.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)
2g.71686469A>TCA347227877DYSFc.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)
2g.71686470delCA2659556534DYSFc.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
2g.71686470A=CA1260160348DYSFc.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=)
2g.71686470A>CCA347227881DYSFc.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)
2g.71686470A>GCA49779629DYSFc.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
2g.71686470A>TCA347227880DYSFc.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)
2g.71686471G>ACA426705043DYSFc.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
2g.71686471G>CCA347227882DYSFc.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)
2g.71686471G=CA1260160349DYSFc.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=)
2g.71686471G>TCA347227883DYSFc.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)
2g.71686472C>ACA347227884DYSFc.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)
2g.71686472C=CA1260160350DYSFc.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=)
2g.71686472C>GCA347227885DYSFc.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
2g.71686472C>TCA426705044DYSFc.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
2g.71686473T>ACA347227886DYSFc.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)
2g.71686473T>CCA347227887DYSFc.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)
2g.71686473T>GCA347227888DYSFc.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)
2g.71686474G>ACA1707697DYSFc.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
2g.71686474G>CCA426705045DYSFc.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=)
2g.71686474G=CA1260160351DYSFc.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=)
2g.71686474G>TCA426705046DYSFc.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=)
2g.71686475G>ACA347227889DYSFc.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)
2g.71686475G>CCA347227890DYSFc.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)
2g.71686475G>TCA347227891DYSFc.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)
2g.71686476T>ACA347227892DYSFc.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)
2g.71686476T>CCA347227894DYSFc.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)
2g.71686476T>GCA347227893DYSFc.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)
2g.71686477G>ACA426705049DYSFc.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
2g.71686477G>CCA426705047DYSFc.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=)
2g.71686477G>TCA426705048DYSFc.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=)
2g.71686478A>CCA347227895DYSFc.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)
2g.71686478A>GCA347227896DYSFc.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)
2g.71686478A>TCA347227897DYSFc.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)
2g.71686479A=CA1260160352DYSFc.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=)
2g.71686479A>CCA347227898DYSFc.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)
2g.71686479A>GCA347227899DYSFc.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)
2g.71686479A>TCA347227900DYSFc.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
2g.71686482_71686489delCA1139532906DYSFc.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?)
2g.71686480G>ACA426705050DYSFc.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
2g.71686480G>CCA347227901DYSFc.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)
2g.71686480G=CA1260160353DYSFc.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=)
2g.71686480G>TCA347227902DYSFc.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)
2g.71686481C>ACA347227903DYSFc.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)
2g.71686481C>GCA347227904DYSFc.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)
2g.71686481C>TCA347227905DYSFc.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
2g.71686482C>ACA347227907DYSFc.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)
2g.71686482C=CA1260160354DYSFc.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=)
2g.71686482C>GCA347227908DYSFc.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)
2g.71686482C>TCA347227906DYSFc.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
2g.71686483C>ACA426705053DYSFc.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=)
2g.71686483C=CA1260160355DYSFc.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=)
2g.71686483C>GCA426705051DYSFc.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=)
2g.71686483C>TCA426705052DYSFc.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
2g.71686484T>ACA347227909DYSFc.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)
2g.71686484T>CCA347227910DYSFc.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)
2g.71686484T>GCA1707698DYSFc.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
2g.71686484T=CA1260160356DYSFc.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=)
2g.71686485T>ACA347227911DYSFc.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)
2g.71686485T>CCA347227912DYSFc.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)
2g.71686485T>GCA347227913DYSFc.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
2g.71686485T=CA1260160357DYSFc.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=)
2g.71686486C>ACA347227914DYSFc.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)
2g.71686486C>GCA347227915DYSFc.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)
2g.71686486C>TCA426705054DYSFc.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
2g.71686487A>CCA347227916DYSFc.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)
2g.71686487A>GCA347227917DYSFc.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
2g.71686487A>TCA347227918DYSFc.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)
2g.71686488G>ACA347227919DYSFc.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)
2g.71686488G>CCA347227920DYSFc.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)
2g.71686488G>TCA347227921DYSFc.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)
2g.71686489C>ACA347227922DYSFc.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)
2g.71686489C>GCA347227924DYSFc.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)
2g.71686489C>TCA426705055DYSFc.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=)
2g.71686490T>ACA347227925DYSFc.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)
2g.71686490T>CCA347227927DYSFc.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)
2g.71686490T>GCA347227929DYSFc.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
2g.71686490T=CA1260160358DYSFc.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=)
2g.71686491G>ACA1707699DYSFc.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
2g.71686491G>CCA347227931DYSFc.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)
2g.71686491G=CA1260160359DYSFc.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=)
2g.71686491G>TCA347227933DYSFc.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)
2g.71686492A>CCA347227935DYSFc.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)
2g.71686492A>GCA347227937DYSFc.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)
2g.71686492A>TCA347227938DYSFc.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)
2g.71686493G>ACA2577000995DYSFc.3775G>A (n.3775G>A)
c.*1G>A (n.*1G>A)
n.3129G>A
2g.71686494G>ACA2659556535DYSFc.3776G>A (n.3776G>A)
c.*2G>A (n.*2G>A)
n.3130G>A
 gnomAD v4
2g.71686495A>CCA2659556536DYSFc.3777A>C (n.3777A>C)
c.*3A>C (n.*3A>C)
n.3131A>C
 gnomAD v4
2g.71686496C=CA1260160360DYSFc.3778C= (n.3778C=)
c.*4C= (n.*4C=)
n.3132C=
2g.71686496C>TCA533267569DYSFc.3778C>T (n.3778C>T)
c.*4C>T (n.*4C>T)
n.3132C>T
 dbSNP gnomAD v2 gnomAD v4
2g.71686498C=CA1260160361DYSFc.3780C= (n.3780C=)
c.*6C= (n.*6C=)
n.3134C=
2g.71686498C>GCA1707700DYSFc.3780C>G (n.3780C>G)
c.*6C>G (n.*6C>G)
n.3134C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71686500C=CA1260160362DYSFc.3782C= (n.3782C=)
c.*8C= (n.*8C=)
n.3136C=
2g.71686500C>GCA892689391DYSFc.3782C>G (n.3782C>G)
c.*8C>G (n.*8C>G)
n.3136C>G
 dbSNP gnomAD v3 gnomAD v4
2g.71686501C=CA1260160363DYSFc.3783C= (n.3783C=)
c.*9C= (n.*9C=)
n.3137C=
2g.71686501C>GCA1139657092DYSFc.3783C>G (n.3783C>G)
c.*9C>G (n.*9C>G)
n.3137C>G
 ClinVar dbSNP
2g.71686502T>ACA2659556537DYSFc.3784T>A (n.3784T>A)
c.*10T>A (n.*10T>A)
n.3138T>A
 gnomAD v4
2g.71686503G>ACA1260160365DYSFc.3785G>A (n.3785G>A)
c.*11G>A (n.*11G>A)
n.3139G>A
 dbSNP gnomAD v3 gnomAD v4
2g.71686503G=CA1260160364DYSFc.3785G= (n.3785G=)
c.*11G= (n.*11G=)
n.3139G=
2g.71686504C>TCA2659556538DYSFc.3786C>T (n.3786C>T)
c.*12C>T (n.*12C>T)
n.3140C>T
 gnomAD v4
2g.71686506C>TCA2577000996DYSFc.3788C>T (n.3788C>T)
c.*14C>T (n.*14C>T)
n.3142C>T
 gnomAD v4
2g.71686507T>CCA1707701DYSFc.3789T>C (n.3789T>C)
c.*15T>C (n.*15T>C)
n.3143T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71686507T=CA1260160366DYSFc.3789T= (n.3789T=)
c.*15T= (n.*15T=)
n.3143T=
2g.71686508G>ACA2659556539DYSFc.3790G>A (n.3790G>A)
c.*16G>A (n.*16G>A)
n.3144G>A
 gnomAD v4
2g.71686508G>TCA2659556540DYSFc.3790G>T (n.3790G>T)
c.*16G>T (n.*16G>T)
n.3144G>T
 gnomAD v4
2g.71686509T>CCA1707702DYSFc.3791T>C (n.3791T>C)
c.*17T>C (n.*17T>C)
n.3145T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71686509T=CA1260160367DYSFc.3791T= (n.3791T=)
c.*17T= (n.*17T=)
n.3145T=
2g.71686510A=CA1260160368DYSFc.3792A= (n.3792A=)
c.*18A= (n.*18A=)
n.3146A=
2g.71686510A>GCA16604380DYSFc.3792A>G (n.3792A>G)
c.*18A>G (n.*18A>G)
n.3146A>G
 ClinVar dbSNP
2g.71686517G>ACA2577000997DYSFc.3799G>A (n.3799G>A)
c.*25G>A (n.*25G>A)
n.3153G>A
 gnomAD v4
2g.71686517G>TCA2659556541DYSFc.3799G>T (n.3799G>T)
c.*25G>T (n.*25G>T)
n.3153G>T
 gnomAD v4
2g.71686518C>GCA2699654263DYSFc.3800C>G (n.3800C>G)
c.*26C>G (n.*26C>G)
n.3154C>G
 dbSNP
2g.71686519C=CA1260160369DYSFc.3801C= (n.3801C=)
c.*27C= (n.*27C=)
n.3155C=
2g.71686519C>TCA1707703DYSFc.3801C>T (n.3801C>T)
c.*27C>T (n.*27C>T)
n.3155C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71686520G>ACA1707704DYSFc.3802G>A (n.3802G>A)
c.*28G>A (n.*28G>A)
n.3156G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71686520G=CA1260160370DYSFc.3802G= (n.3802G=)
c.*28G= (n.*28G=)
n.3156G=
2g.71686522G>TCA2529892135DYSFc.3804G>T (n.3804G>T)
c.*30G>T (n.*30G>T)
n.3158G>T
2g.71686525delCA2577000998DYSFc.3807del (n.3807del)
c.*33del (n.*33del)
n.3161del
2g.71686523G>CCA1707705DYSFc.3805G>C (n.3805G>C)
c.*31G>C (n.*31G>C)
n.3159G>C
 dbSNP ExAC gnomAD v4
2g.71686523G=CA1260160371DYSFc.3805G= (n.3805G=)
c.*31G= (n.*31G=)
n.3159G=
2g.71686523G>TCA49779692DYSFc.3805G>T (n.3805G>T)
c.*31G>T (n.*31G>T)
n.3159G>T
 dbSNP gnomAD v3 gnomAD v4
2g.71686524G>ACA2659556542DYSFc.3806G>A (n.3806G>A)
c.*32G>A (n.*32G>A)
n.3160G>A
 gnomAD v4
2g.71686524G>TCA2577000999DYSFc.3806G>T (n.3806G>T)
c.*32G>T (n.*32G>T)
n.3160G>T
2g.71686525G>ACA2659556543DYSFc.3807G>A (n.3807G>A)
c.*33G>A (n.*33G>A)
n.3161G>A
 gnomAD v4
2g.71686525G>TCA2750418019DYSFc.3807G>T (n.3807G>T)
c.*33G>T (n.*33G>T)
n.3161G>T
2g.71686528C=CA1260160372DYSFc.3810C= (n.3810C=)
c.*36C= (n.*36C=)
n.3164C=
2g.71686528C>TCA533267574DYSFc.3810C>T (n.3810C>T)
c.*36C>T (n.*36C>T)
n.3164C>T
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched