Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71678997_71679008delinsGTGGCTACAGGCCA1260156792DYSFc.3299-60_3299-49delinsGTGGCTACAGGC (n.3299-60_3299-49delinsGTGGCTACAGGC)
c.2516-60_2516-49delinsGTGGCTACAGGC (n.2516-60_2516-49delinsGTGGCTACAGGC)
c.2624-60_2624-49delinsGTGGCTACAGGC (n.2624-60_2624-49delinsGTGGCTACAGGC)
c.5768-60_5768-49delinsGTGGCTACAGGC (n.5768-60_5768-49delinsGTGGCTACAGGC)
c.5885-60_5885-49delinsGTGGCTACAGGC (n.5885-60_5885-49delinsGTGGCTACAGGC)
c.5771-60_5771-49delinsGTGGCTACAGGC (n.5771-60_5771-49delinsGTGGCTACAGGC)
c.5834-60_5834-49delinsGTGGCTACAGGC (n.5834-60_5834-49delinsGTGGCTACAGGC)
c.5882-60_5882-49delinsGTGGCTACAGGC (n.5882-60_5882-49delinsGTGGCTACAGGC)
c.5864-60_5864-49delinsGTGGCTACAGGC (n.5864-60_5864-49delinsGTGGCTACAGGC)
c.5792-60_5792-49delinsGTGGCTACAGGC (n.5792-60_5792-49delinsGTGGCTACAGGC)
c.5819-60_5819-49delinsGTGGCTACAGGC (n.5819-60_5819-49delinsGTGGCTACAGGC)
c.5822-60_5822-49delinsGTGGCTACAGGC (n.5822-60_5822-49delinsGTGGCTACAGGC)
c.5861-60_5861-49delinsGTGGCTACAGGC (n.5861-60_5861-49delinsGTGGCTACAGGC)
c.5831-60_5831-49delinsGTGGCTACAGGC (n.5831-60_5831-49delinsGTGGCTACAGGC)
n.2653-60_2653-49delinsGTGGCTACAGGC
c.5726-60_5726-49delinsGTGGCTACAGGC (n.5726-60_5726-49delinsGTGGCTACAGGC)
c.5789-60_5789-49delinsGTGGCTACAGGC (n.5789-60_5789-49delinsGTGGCTACAGGC)
c.5729-60_5729-49delinsGTGGCTACAGGC (n.5729-60_5729-49delinsGTGGCTACAGGC)
c.5927-60_5927-49delinsGTGGCTACAGGC (n.5927-60_5927-49delinsGTGGCTACAGGC)
c.5924-60_5924-49delinsGTGGCTACAGGC (n.5924-60_5924-49delinsGTGGCTACAGGC)
2g.71679002_71679012delCA1260156793DYSFc.3299-55_3299-45del (n.3299-55_3299-45del)
c.2516-55_2516-45del (n.2516-55_2516-45del)
c.2624-55_2624-45del (n.2624-55_2624-45del)
c.5768-55_5768-45del (n.5768-55_5768-45del)
c.5885-55_5885-45del (n.5885-55_5885-45del)
c.5771-55_5771-45del (n.5771-55_5771-45del)
c.5834-55_5834-45del (n.5834-55_5834-45del)
c.5882-55_5882-45del (n.5882-55_5882-45del)
c.5864-55_5864-45del (n.5864-55_5864-45del)
c.5792-55_5792-45del (n.5792-55_5792-45del)
c.5819-55_5819-45del (n.5819-55_5819-45del)
c.5822-55_5822-45del (n.5822-55_5822-45del)
c.5861-55_5861-45del (n.5861-55_5861-45del)
c.5831-55_5831-45del (n.5831-55_5831-45del)
n.2653-55_2653-45del
c.5726-55_5726-45del (n.5726-55_5726-45del)
c.5789-55_5789-45del (n.5789-55_5789-45del)
c.5729-55_5729-45del (n.5729-55_5729-45del)
c.5927-55_5927-45del (n.5927-55_5927-45del)
c.5924-55_5924-45del (n.5924-55_5924-45del)
 dbSNP gnomAD v4
2g.71679003A>TCA2659556004DYSFc.3299-54A>T (n.3299-54A>T)
c.2516-54A>T (n.2516-54A>T)
c.2624-54A>T (n.2624-54A>T)
c.5768-54A>T (n.5768-54A>T)
c.5885-54A>T (n.5885-54A>T)
c.5771-54A>T (n.5771-54A>T)
c.5834-54A>T (n.5834-54A>T)
c.5882-54A>T (n.5882-54A>T)
c.5864-54A>T (n.5864-54A>T)
c.5792-54A>T (n.5792-54A>T)
c.5819-54A>T (n.5819-54A>T)
c.5822-54A>T (n.5822-54A>T)
c.5861-54A>T (n.5861-54A>T)
c.5831-54A>T (n.5831-54A>T)
n.2653-54A>T
c.5726-54A>T (n.5726-54A>T)
c.5789-54A>T (n.5789-54A>T)
c.5729-54A>T (n.5729-54A>T)
c.5927-54A>T (n.5927-54A>T)
c.5924-54A>T (n.5924-54A>T)
 gnomAD v4
2g.71679004C>ACA2659556005DYSFc.3299-53C>A (n.3299-53C>A)
c.2516-53C>A (n.2516-53C>A)
c.2624-53C>A (n.2624-53C>A)
c.5768-53C>A (n.5768-53C>A)
c.5885-53C>A (n.5885-53C>A)
c.5771-53C>A (n.5771-53C>A)
c.5834-53C>A (n.5834-53C>A)
c.5882-53C>A (n.5882-53C>A)
c.5864-53C>A (n.5864-53C>A)
c.5792-53C>A (n.5792-53C>A)
c.5819-53C>A (n.5819-53C>A)
c.5822-53C>A (n.5822-53C>A)
c.5861-53C>A (n.5861-53C>A)
c.5831-53C>A (n.5831-53C>A)
n.2653-53C>A
c.5726-53C>A (n.5726-53C>A)
c.5789-53C>A (n.5789-53C>A)
c.5729-53C>A (n.5729-53C>A)
c.5927-53C>A (n.5927-53C>A)
c.5924-53C>A (n.5924-53C>A)
 gnomAD v4
2g.71679004C=CA1260156797DYSFc.3299-53C= (n.3299-53C=)
c.2516-53C= (n.2516-53C=)
c.2624-53C= (n.2624-53C=)
c.5768-53C= (n.5768-53C=)
c.5885-53C= (n.5885-53C=)
c.5771-53C= (n.5771-53C=)
c.5834-53C= (n.5834-53C=)
c.5882-53C= (n.5882-53C=)
c.5864-53C= (n.5864-53C=)
c.5792-53C= (n.5792-53C=)
c.5819-53C= (n.5819-53C=)
c.5822-53C= (n.5822-53C=)
c.5861-53C= (n.5861-53C=)
c.5831-53C= (n.5831-53C=)
n.2653-53C=
c.5726-53C= (n.5726-53C=)
c.5789-53C= (n.5789-53C=)
c.5729-53C= (n.5729-53C=)
c.5927-53C= (n.5927-53C=)
c.5924-53C= (n.5924-53C=)
2g.71679004C>TCA2659556006DYSFc.3299-53C>T (n.3299-53C>T)
c.2516-53C>T (n.2516-53C>T)
c.2624-53C>T (n.2624-53C>T)
c.5768-53C>T (n.5768-53C>T)
c.5885-53C>T (n.5885-53C>T)
c.5771-53C>T (n.5771-53C>T)
c.5834-53C>T (n.5834-53C>T)
c.5882-53C>T (n.5882-53C>T)
c.5864-53C>T (n.5864-53C>T)
c.5792-53C>T (n.5792-53C>T)
c.5819-53C>T (n.5819-53C>T)
c.5822-53C>T (n.5822-53C>T)
c.5861-53C>T (n.5861-53C>T)
c.5831-53C>T (n.5831-53C>T)
n.2653-53C>T
c.5726-53C>T (n.5726-53C>T)
c.5789-53C>T (n.5789-53C>T)
c.5729-53C>T (n.5729-53C>T)
c.5927-53C>T (n.5927-53C>T)
c.5924-53C>T (n.5924-53C>T)
 gnomAD v4
2g.71679005A>TCA2659556007DYSFc.3299-52A>T (n.3299-52A>T)
c.2516-52A>T (n.2516-52A>T)
c.2624-52A>T (n.2624-52A>T)
c.5768-52A>T (n.5768-52A>T)
c.5885-52A>T (n.5885-52A>T)
c.5771-52A>T (n.5771-52A>T)
c.5834-52A>T (n.5834-52A>T)
c.5882-52A>T (n.5882-52A>T)
c.5864-52A>T (n.5864-52A>T)
c.5792-52A>T (n.5792-52A>T)
c.5819-52A>T (n.5819-52A>T)
c.5822-52A>T (n.5822-52A>T)
c.5861-52A>T (n.5861-52A>T)
c.5831-52A>T (n.5831-52A>T)
n.2653-52A>T
c.5726-52A>T (n.5726-52A>T)
c.5789-52A>T (n.5789-52A>T)
c.5729-52A>T (n.5729-52A>T)
c.5927-52A>T (n.5927-52A>T)
c.5924-52A>T (n.5924-52A>T)
 gnomAD v4
2g.71679005dupCA1032076659DYSFc.3299-52dup (n.3299-52dup)
c.2516-52dup (n.2516-52dup)
c.2624-52dup (n.2624-52dup)
c.5768-52dup (n.5768-52dup)
c.5885-52dup (n.5885-52dup)
c.5771-52dup (n.5771-52dup)
c.5834-52dup (n.5834-52dup)
c.5882-52dup (n.5882-52dup)
c.5864-52dup (n.5864-52dup)
c.5792-52dup (n.5792-52dup)
c.5819-52dup (n.5819-52dup)
c.5822-52dup (n.5822-52dup)
c.5861-52dup (n.5861-52dup)
c.5831-52dup (n.5831-52dup)
n.2653-52dup
c.5726-52dup (n.5726-52dup)
c.5789-52dup (n.5789-52dup)
c.5729-52dup (n.5729-52dup)
c.5927-52dup (n.5927-52dup)
c.5924-52dup (n.5924-52dup)
 dbSNP gnomAD v3 gnomAD v4
2g.71679006G>TCA2659556008DYSFc.3299-51G>T (n.3299-51G>T)
c.2516-51G>T (n.2516-51G>T)
c.2624-51G>T (n.2624-51G>T)
c.5768-51G>T (n.5768-51G>T)
c.5885-51G>T (n.5885-51G>T)
c.5771-51G>T (n.5771-51G>T)
c.5834-51G>T (n.5834-51G>T)
c.5882-51G>T (n.5882-51G>T)
c.5864-51G>T (n.5864-51G>T)
c.5792-51G>T (n.5792-51G>T)
c.5819-51G>T (n.5819-51G>T)
c.5822-51G>T (n.5822-51G>T)
c.5861-51G>T (n.5861-51G>T)
c.5831-51G>T (n.5831-51G>T)
n.2653-51G>T
c.5726-51G>T (n.5726-51G>T)
c.5789-51G>T (n.5789-51G>T)
c.5729-51G>T (n.5729-51G>T)
c.5927-51G>T (n.5927-51G>T)
c.5924-51G>T (n.5924-51G>T)
 gnomAD v4
2g.71679007G>ACA2659556009DYSFc.3299-50G>A (n.3299-50G>A)
c.2516-50G>A (n.2516-50G>A)
c.2624-50G>A (n.2624-50G>A)
c.5768-50G>A (n.5768-50G>A)
c.5885-50G>A (n.5885-50G>A)
c.5771-50G>A (n.5771-50G>A)
c.5834-50G>A (n.5834-50G>A)
c.5882-50G>A (n.5882-50G>A)
c.5864-50G>A (n.5864-50G>A)
c.5792-50G>A (n.5792-50G>A)
c.5819-50G>A (n.5819-50G>A)
c.5822-50G>A (n.5822-50G>A)
c.5861-50G>A (n.5861-50G>A)
c.5831-50G>A (n.5831-50G>A)
n.2653-50G>A
c.5726-50G>A (n.5726-50G>A)
c.5789-50G>A (n.5789-50G>A)
c.5729-50G>A (n.5729-50G>A)
c.5927-50G>A (n.5927-50G>A)
c.5924-50G>A (n.5924-50G>A)
 gnomAD v4
2g.71679007G=CA1260156798DYSFc.3299-50G= (n.3299-50G=)
c.2516-50G= (n.2516-50G=)
c.2624-50G= (n.2624-50G=)
c.5768-50G= (n.5768-50G=)
c.5885-50G= (n.5885-50G=)
c.5771-50G= (n.5771-50G=)
c.5834-50G= (n.5834-50G=)
c.5882-50G= (n.5882-50G=)
c.5864-50G= (n.5864-50G=)
c.5792-50G= (n.5792-50G=)
c.5819-50G= (n.5819-50G=)
c.5822-50G= (n.5822-50G=)
c.5861-50G= (n.5861-50G=)
c.5831-50G= (n.5831-50G=)
n.2653-50G=
c.5726-50G= (n.5726-50G=)
c.5789-50G= (n.5789-50G=)
c.5729-50G= (n.5729-50G=)
c.5927-50G= (n.5927-50G=)
c.5924-50G= (n.5924-50G=)
2g.71679007G>TCA1707532DYSFc.3299-50G>T (n.3299-50G>T)
c.2516-50G>T (n.2516-50G>T)
c.2624-50G>T (n.2624-50G>T)
c.5768-50G>T (n.5768-50G>T)
c.5885-50G>T (n.5885-50G>T)
c.5771-50G>T (n.5771-50G>T)
c.5834-50G>T (n.5834-50G>T)
c.5882-50G>T (n.5882-50G>T)
c.5864-50G>T (n.5864-50G>T)
c.5792-50G>T (n.5792-50G>T)
c.5819-50G>T (n.5819-50G>T)
c.5822-50G>T (n.5822-50G>T)
c.5861-50G>T (n.5861-50G>T)
c.5831-50G>T (n.5831-50G>T)
n.2653-50G>T
c.5726-50G>T (n.5726-50G>T)
c.5789-50G>T (n.5789-50G>T)
c.5729-50G>T (n.5729-50G>T)
c.5927-50G>T (n.5927-50G>T)
c.5924-50G>T (n.5924-50G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71679008C>ACA2659556010DYSFc.3299-49C>A (n.3299-49C>A)
c.2516-49C>A (n.2516-49C>A)
c.2624-49C>A (n.2624-49C>A)
c.5768-49C>A (n.5768-49C>A)
c.5885-49C>A (n.5885-49C>A)
c.5771-49C>A (n.5771-49C>A)
c.5834-49C>A (n.5834-49C>A)
c.5882-49C>A (n.5882-49C>A)
c.5864-49C>A (n.5864-49C>A)
c.5792-49C>A (n.5792-49C>A)
c.5819-49C>A (n.5819-49C>A)
c.5822-49C>A (n.5822-49C>A)
c.5861-49C>A (n.5861-49C>A)
c.5831-49C>A (n.5831-49C>A)
n.2653-49C>A
c.5726-49C>A (n.5726-49C>A)
c.5789-49C>A (n.5789-49C>A)
c.5729-49C>A (n.5729-49C>A)
c.5927-49C>A (n.5927-49C>A)
c.5924-49C>A (n.5924-49C>A)
 gnomAD v4
2g.71679010G>ACA2659556012DYSFc.3299-47G>A (n.3299-47G>A)
c.2516-47G>A (n.2516-47G>A)
c.2624-47G>A (n.2624-47G>A)
c.5768-47G>A (n.5768-47G>A)
c.5885-47G>A (n.5885-47G>A)
c.5771-47G>A (n.5771-47G>A)
c.5834-47G>A (n.5834-47G>A)
c.5882-47G>A (n.5882-47G>A)
c.5864-47G>A (n.5864-47G>A)
c.5792-47G>A (n.5792-47G>A)
c.5819-47G>A (n.5819-47G>A)
c.5822-47G>A (n.5822-47G>A)
c.5861-47G>A (n.5861-47G>A)
c.5831-47G>A (n.5831-47G>A)
n.2653-47G>A
c.5726-47G>A (n.5726-47G>A)
c.5789-47G>A (n.5789-47G>A)
c.5729-47G>A (n.5729-47G>A)
c.5927-47G>A (n.5927-47G>A)
c.5924-47G>A (n.5924-47G>A)
 gnomAD v4
2g.71679010G>TCA2659556011DYSFc.3299-47G>T (n.3299-47G>T)
c.2516-47G>T (n.2516-47G>T)
c.2624-47G>T (n.2624-47G>T)
c.5768-47G>T (n.5768-47G>T)
c.5885-47G>T (n.5885-47G>T)
c.5771-47G>T (n.5771-47G>T)
c.5834-47G>T (n.5834-47G>T)
c.5882-47G>T (n.5882-47G>T)
c.5864-47G>T (n.5864-47G>T)
c.5792-47G>T (n.5792-47G>T)
c.5819-47G>T (n.5819-47G>T)
c.5822-47G>T (n.5822-47G>T)
c.5861-47G>T (n.5861-47G>T)
c.5831-47G>T (n.5831-47G>T)
n.2653-47G>T
c.5726-47G>T (n.5726-47G>T)
c.5789-47G>T (n.5789-47G>T)
c.5729-47G>T (n.5729-47G>T)
c.5927-47G>T (n.5927-47G>T)
c.5924-47G>T (n.5924-47G>T)
 gnomAD v4
2g.71679011delCA2577000903DYSFc.3299-46del (n.3299-46del)
c.2516-46del (n.2516-46del)
c.2624-46del (n.2624-46del)
c.5768-46del (n.5768-46del)
c.5885-46del (n.5885-46del)
c.5771-46del (n.5771-46del)
c.5834-46del (n.5834-46del)
c.5882-46del (n.5882-46del)
c.5864-46del (n.5864-46del)
c.5792-46del (n.5792-46del)
c.5819-46del (n.5819-46del)
c.5822-46del (n.5822-46del)
c.5861-46del (n.5861-46del)
c.5831-46del (n.5831-46del)
n.2653-46del
c.5726-46del (n.5726-46del)
c.5789-46del (n.5789-46del)
c.5729-46del (n.5729-46del)
c.5927-46del (n.5927-46del)
c.5924-46del (n.5924-46del)
 gnomAD v4
2g.71679030_71679031insAGGCAGGGCAGTGATCGAGAAACCCTTCA2659556013DYSFc.3299-27_3299-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.3299-27_3299-26insAGGCAGGGCAGTGATCGAGAAACCCTT)
c.2516-27_2516-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.2516-27_2516-26insAGGCAGGGCAGTGATCGAGAAACCCTT)
c.2624-27_2624-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.2624-27_2624-26insAGGCAGGGCAGTGATCGAGAAACCCTT)
c.5768-27_5768-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5768-27_5768-26insAGGCAGGGCAGTGATCGAGAAACCCTT)
c.5885-27_5885-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5885-27_5885-26insAGGCAGGGCAGTGATCGAGAAACCCTT)
c.5771-27_5771-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5771-27_5771-26insAGGCAGGGCAGTGATCGAGAAACCCTT)
c.5834-27_5834-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5834-27_5834-26insAGGCAGGGCAGTGATCGAGAAACCCTT)
c.5882-27_5882-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5882-27_5882-26insAGGCAGGGCAGTGATCGAGAAACCCTT)
c.5864-27_5864-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5864-27_5864-26insAGGCAGGGCAGTGATCGAGAAACCCTT)
c.5792-27_5792-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5792-27_5792-26insAGGCAGGGCAGTGATCGAGAAACCCTT)
c.5819-27_5819-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5819-27_5819-26insAGGCAGGGCAGTGATCGAGAAACCCTT)
c.5822-27_5822-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5822-27_5822-26insAGGCAGGGCAGTGATCGAGAAACCCTT)
c.5861-27_5861-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5861-27_5861-26insAGGCAGGGCAGTGATCGAGAAACCCTT)
c.5831-27_5831-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5831-27_5831-26insAGGCAGGGCAGTGATCGAGAAACCCTT)
n.2653-27_2653-26insAGGCAGGGCAGTGATCGAGAAACCCTT
c.5726-27_5726-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5726-27_5726-26insAGGCAGGGCAGTGATCGAGAAACCCTT)
c.5789-27_5789-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5789-27_5789-26insAGGCAGGGCAGTGATCGAGAAACCCTT)
c.5729-27_5729-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5729-27_5729-26insAGGCAGGGCAGTGATCGAGAAACCCTT)
c.5927-27_5927-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5927-27_5927-26insAGGCAGGGCAGTGATCGAGAAACCCTT)
c.5924-27_5924-26insAGGCAGGGCAGTGATCGAGAAACCCTT (n.5924-27_5924-26insAGGCAGGGCAGTGATCGAGAAACCCTT)
 gnomAD v4
2g.71679011G>ACA533655818DYSFc.3299-46G>A (n.3299-46G>A)
c.2516-46G>A (n.2516-46G>A)
c.2624-46G>A (n.2624-46G>A)
c.5768-46G>A (n.5768-46G>A)
c.5885-46G>A (n.5885-46G>A)
c.5771-46G>A (n.5771-46G>A)
c.5834-46G>A (n.5834-46G>A)
c.5882-46G>A (n.5882-46G>A)
c.5864-46G>A (n.5864-46G>A)
c.5792-46G>A (n.5792-46G>A)
c.5819-46G>A (n.5819-46G>A)
c.5822-46G>A (n.5822-46G>A)
c.5861-46G>A (n.5861-46G>A)
c.5831-46G>A (n.5831-46G>A)
n.2653-46G>A
c.5726-46G>A (n.5726-46G>A)
c.5789-46G>A (n.5789-46G>A)
c.5729-46G>A (n.5729-46G>A)
c.5927-46G>A (n.5927-46G>A)
c.5924-46G>A (n.5924-46G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.71679011G=CA1260156799DYSFc.3299-46G= (n.3299-46G=)
c.2516-46G= (n.2516-46G=)
c.2624-46G= (n.2624-46G=)
c.5768-46G= (n.5768-46G=)
c.5885-46G= (n.5885-46G=)
c.5771-46G= (n.5771-46G=)
c.5834-46G= (n.5834-46G=)
c.5882-46G= (n.5882-46G=)
c.5864-46G= (n.5864-46G=)
c.5792-46G= (n.5792-46G=)
c.5819-46G= (n.5819-46G=)
c.5822-46G= (n.5822-46G=)
c.5861-46G= (n.5861-46G=)
c.5831-46G= (n.5831-46G=)
n.2653-46G=
c.5726-46G= (n.5726-46G=)
c.5789-46G= (n.5789-46G=)
c.5729-46G= (n.5729-46G=)
c.5927-46G= (n.5927-46G=)
c.5924-46G= (n.5924-46G=)
2g.71679011G>TCA1707533DYSFc.3299-46G>T (n.3299-46G>T)
c.2516-46G>T (n.2516-46G>T)
c.2624-46G>T (n.2624-46G>T)
c.5768-46G>T (n.5768-46G>T)
c.5885-46G>T (n.5885-46G>T)
c.5771-46G>T (n.5771-46G>T)
c.5834-46G>T (n.5834-46G>T)
c.5882-46G>T (n.5882-46G>T)
c.5864-46G>T (n.5864-46G>T)
c.5792-46G>T (n.5792-46G>T)
c.5819-46G>T (n.5819-46G>T)
c.5822-46G>T (n.5822-46G>T)
c.5861-46G>T (n.5861-46G>T)
c.5831-46G>T (n.5831-46G>T)
n.2653-46G>T
c.5726-46G>T (n.5726-46G>T)
c.5789-46G>T (n.5789-46G>T)
c.5729-46G>T (n.5729-46G>T)
c.5927-46G>T (n.5927-46G>T)
c.5924-46G>T (n.5924-46G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71679012C>ACA2659556014DYSFc.3299-45C>A (n.3299-45C>A)
c.2516-45C>A (n.2516-45C>A)
c.2624-45C>A (n.2624-45C>A)
c.5768-45C>A (n.5768-45C>A)
c.5885-45C>A (n.5885-45C>A)
c.5771-45C>A (n.5771-45C>A)
c.5834-45C>A (n.5834-45C>A)
c.5882-45C>A (n.5882-45C>A)
c.5864-45C>A (n.5864-45C>A)
c.5792-45C>A (n.5792-45C>A)
c.5819-45C>A (n.5819-45C>A)
c.5822-45C>A (n.5822-45C>A)
c.5861-45C>A (n.5861-45C>A)
c.5831-45C>A (n.5831-45C>A)
n.2653-45C>A
c.5726-45C>A (n.5726-45C>A)
c.5789-45C>A (n.5789-45C>A)
c.5729-45C>A (n.5729-45C>A)
c.5927-45C>A (n.5927-45C>A)
c.5924-45C>A (n.5924-45C>A)
 gnomAD v4
2g.71679012C>TCA2659556015DYSFc.3299-45C>T (n.3299-45C>T)
c.2516-45C>T (n.2516-45C>T)
c.2624-45C>T (n.2624-45C>T)
c.5768-45C>T (n.5768-45C>T)
c.5885-45C>T (n.5885-45C>T)
c.5771-45C>T (n.5771-45C>T)
c.5834-45C>T (n.5834-45C>T)
c.5882-45C>T (n.5882-45C>T)
c.5864-45C>T (n.5864-45C>T)
c.5792-45C>T (n.5792-45C>T)
c.5819-45C>T (n.5819-45C>T)
c.5822-45C>T (n.5822-45C>T)
c.5861-45C>T (n.5861-45C>T)
c.5831-45C>T (n.5831-45C>T)
n.2653-45C>T
c.5726-45C>T (n.5726-45C>T)
c.5789-45C>T (n.5789-45C>T)
c.5729-45C>T (n.5729-45C>T)
c.5927-45C>T (n.5927-45C>T)
c.5924-45C>T (n.5924-45C>T)
 dbSNP gnomAD v4
2g.71679013A=CA1260156800DYSFc.3299-44A= (n.3299-44A=)
c.2516-44A= (n.2516-44A=)
c.2624-44A= (n.2624-44A=)
c.5768-44A= (n.5768-44A=)
c.5885-44A= (n.5885-44A=)
c.5771-44A= (n.5771-44A=)
c.5834-44A= (n.5834-44A=)
c.5882-44A= (n.5882-44A=)
c.5864-44A= (n.5864-44A=)
c.5792-44A= (n.5792-44A=)
c.5819-44A= (n.5819-44A=)
c.5822-44A= (n.5822-44A=)
c.5861-44A= (n.5861-44A=)
c.5831-44A= (n.5831-44A=)
n.2653-44A=
c.5726-44A= (n.5726-44A=)
c.5789-44A= (n.5789-44A=)
c.5729-44A= (n.5729-44A=)
c.5927-44A= (n.5927-44A=)
c.5924-44A= (n.5924-44A=)
2g.71679013A>GCA533655819DYSFc.3299-44A>G (n.3299-44A>G)
c.2516-44A>G (n.2516-44A>G)
c.2624-44A>G (n.2624-44A>G)
c.5768-44A>G (n.5768-44A>G)
c.5885-44A>G (n.5885-44A>G)
c.5771-44A>G (n.5771-44A>G)
c.5834-44A>G (n.5834-44A>G)
c.5882-44A>G (n.5882-44A>G)
c.5864-44A>G (n.5864-44A>G)
c.5792-44A>G (n.5792-44A>G)
c.5819-44A>G (n.5819-44A>G)
c.5822-44A>G (n.5822-44A>G)
c.5861-44A>G (n.5861-44A>G)
c.5831-44A>G (n.5831-44A>G)
n.2653-44A>G
c.5726-44A>G (n.5726-44A>G)
c.5789-44A>G (n.5789-44A>G)
c.5729-44A>G (n.5729-44A>G)
c.5927-44A>G (n.5927-44A>G)
c.5924-44A>G (n.5924-44A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.71679014G>ACA2577000904DYSFc.3299-43G>A (n.3299-43G>A)
c.2516-43G>A (n.2516-43G>A)
c.2624-43G>A (n.2624-43G>A)
c.5768-43G>A (n.5768-43G>A)
c.5885-43G>A (n.5885-43G>A)
c.5771-43G>A (n.5771-43G>A)
c.5834-43G>A (n.5834-43G>A)
c.5882-43G>A (n.5882-43G>A)
c.5864-43G>A (n.5864-43G>A)
c.5792-43G>A (n.5792-43G>A)
c.5819-43G>A (n.5819-43G>A)
c.5822-43G>A (n.5822-43G>A)
c.5861-43G>A (n.5861-43G>A)
c.5831-43G>A (n.5831-43G>A)
n.2653-43G>A
c.5726-43G>A (n.5726-43G>A)
c.5789-43G>A (n.5789-43G>A)
c.5729-43G>A (n.5729-43G>A)
c.5927-43G>A (n.5927-43G>A)
c.5924-43G>A (n.5924-43G>A)
2g.71679015T>GCA2659556016DYSFc.3299-42T>G (n.3299-42T>G)
c.2516-42T>G (n.2516-42T>G)
c.2624-42T>G (n.2624-42T>G)
c.5768-42T>G (n.5768-42T>G)
c.5885-42T>G (n.5885-42T>G)
c.5771-42T>G (n.5771-42T>G)
c.5834-42T>G (n.5834-42T>G)
c.5882-42T>G (n.5882-42T>G)
c.5864-42T>G (n.5864-42T>G)
c.5792-42T>G (n.5792-42T>G)
c.5819-42T>G (n.5819-42T>G)
c.5822-42T>G (n.5822-42T>G)
c.5861-42T>G (n.5861-42T>G)
c.5831-42T>G (n.5831-42T>G)
n.2653-42T>G
c.5726-42T>G (n.5726-42T>G)
c.5789-42T>G (n.5789-42T>G)
c.5729-42T>G (n.5729-42T>G)
c.5927-42T>G (n.5927-42T>G)
c.5924-42T>G (n.5924-42T>G)
 gnomAD v4
2g.71679016G>ACA2659556017DYSFc.3299-41G>A (n.3299-41G>A)
c.2516-41G>A (n.2516-41G>A)
c.2624-41G>A (n.2624-41G>A)
c.5768-41G>A (n.5768-41G>A)
c.5885-41G>A (n.5885-41G>A)
c.5771-41G>A (n.5771-41G>A)
c.5834-41G>A (n.5834-41G>A)
c.5882-41G>A (n.5882-41G>A)
c.5864-41G>A (n.5864-41G>A)
c.5792-41G>A (n.5792-41G>A)
c.5819-41G>A (n.5819-41G>A)
c.5822-41G>A (n.5822-41G>A)
c.5861-41G>A (n.5861-41G>A)
c.5831-41G>A (n.5831-41G>A)
n.2653-41G>A
c.5726-41G>A (n.5726-41G>A)
c.5789-41G>A (n.5789-41G>A)
c.5729-41G>A (n.5729-41G>A)
c.5927-41G>A (n.5927-41G>A)
c.5924-41G>A (n.5924-41G>A)
 gnomAD v4
2g.71679016G>TCA2659556018DYSFc.3299-41G>T (n.3299-41G>T)
c.2516-41G>T (n.2516-41G>T)
c.2624-41G>T (n.2624-41G>T)
c.5768-41G>T (n.5768-41G>T)
c.5885-41G>T (n.5885-41G>T)
c.5771-41G>T (n.5771-41G>T)
c.5834-41G>T (n.5834-41G>T)
c.5882-41G>T (n.5882-41G>T)
c.5864-41G>T (n.5864-41G>T)
c.5792-41G>T (n.5792-41G>T)
c.5819-41G>T (n.5819-41G>T)
c.5822-41G>T (n.5822-41G>T)
c.5861-41G>T (n.5861-41G>T)
c.5831-41G>T (n.5831-41G>T)
n.2653-41G>T
c.5726-41G>T (n.5726-41G>T)
c.5789-41G>T (n.5789-41G>T)
c.5729-41G>T (n.5729-41G>T)
c.5927-41G>T (n.5927-41G>T)
c.5924-41G>T (n.5924-41G>T)
 gnomAD v4
2g.71679019C>ACA533655820DYSFc.3299-38C>A (n.3299-38C>A)
c.2516-38C>A (n.2516-38C>A)
c.2624-38C>A (n.2624-38C>A)
c.5768-38C>A (n.5768-38C>A)
c.5885-38C>A (n.5885-38C>A)
c.5771-38C>A (n.5771-38C>A)
c.5834-38C>A (n.5834-38C>A)
c.5882-38C>A (n.5882-38C>A)
c.5864-38C>A (n.5864-38C>A)
c.5792-38C>A (n.5792-38C>A)
c.5819-38C>A (n.5819-38C>A)
c.5822-38C>A (n.5822-38C>A)
c.5861-38C>A (n.5861-38C>A)
c.5831-38C>A (n.5831-38C>A)
n.2653-38C>A
c.5726-38C>A (n.5726-38C>A)
c.5789-38C>A (n.5789-38C>A)
c.5729-38C>A (n.5729-38C>A)
c.5927-38C>A (n.5927-38C>A)
c.5924-38C>A (n.5924-38C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.71679019C=CA1260156801DYSFc.3299-38C= (n.3299-38C=)
c.2516-38C= (n.2516-38C=)
c.2624-38C= (n.2624-38C=)
c.5768-38C= (n.5768-38C=)
c.5885-38C= (n.5885-38C=)
c.5771-38C= (n.5771-38C=)
c.5834-38C= (n.5834-38C=)
c.5882-38C= (n.5882-38C=)
c.5864-38C= (n.5864-38C=)
c.5792-38C= (n.5792-38C=)
c.5819-38C= (n.5819-38C=)
c.5822-38C= (n.5822-38C=)
c.5861-38C= (n.5861-38C=)
c.5831-38C= (n.5831-38C=)
n.2653-38C=
c.5726-38C= (n.5726-38C=)
c.5789-38C= (n.5789-38C=)
c.5729-38C= (n.5729-38C=)
c.5927-38C= (n.5927-38C=)
c.5924-38C= (n.5924-38C=)
2g.71679019C>GCA2600268705DYSFc.3299-38C>G (n.3299-38C>G)
c.2516-38C>G (n.2516-38C>G)
c.2624-38C>G (n.2624-38C>G)
c.5768-38C>G (n.5768-38C>G)
c.5885-38C>G (n.5885-38C>G)
c.5771-38C>G (n.5771-38C>G)
c.5834-38C>G (n.5834-38C>G)
c.5882-38C>G (n.5882-38C>G)
c.5864-38C>G (n.5864-38C>G)
c.5792-38C>G (n.5792-38C>G)
c.5819-38C>G (n.5819-38C>G)
c.5822-38C>G (n.5822-38C>G)
c.5861-38C>G (n.5861-38C>G)
c.5831-38C>G (n.5831-38C>G)
n.2653-38C>G
c.5726-38C>G (n.5726-38C>G)
c.5789-38C>G (n.5789-38C>G)
c.5729-38C>G (n.5729-38C>G)
c.5927-38C>G (n.5927-38C>G)
c.5924-38C>G (n.5924-38C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.71679019C>TCA1707534DYSFc.3299-38C>T (n.3299-38C>T)
c.2516-38C>T (n.2516-38C>T)
c.2624-38C>T (n.2624-38C>T)
c.5768-38C>T (n.5768-38C>T)
c.5885-38C>T (n.5885-38C>T)
c.5771-38C>T (n.5771-38C>T)
c.5834-38C>T (n.5834-38C>T)
c.5882-38C>T (n.5882-38C>T)
c.5864-38C>T (n.5864-38C>T)
c.5792-38C>T (n.5792-38C>T)
c.5819-38C>T (n.5819-38C>T)
c.5822-38C>T (n.5822-38C>T)
c.5861-38C>T (n.5861-38C>T)
c.5831-38C>T (n.5831-38C>T)
n.2653-38C>T
c.5726-38C>T (n.5726-38C>T)
c.5789-38C>T (n.5789-38C>T)
c.5729-38C>T (n.5729-38C>T)
c.5927-38C>T (n.5927-38C>T)
c.5924-38C>T (n.5924-38C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71679020G>ACA1707536DYSFc.3299-37G>A (n.3299-37G>A)
c.2516-37G>A (n.2516-37G>A)
c.2624-37G>A (n.2624-37G>A)
c.5768-37G>A (n.5768-37G>A)
c.5885-37G>A (n.5885-37G>A)
c.5771-37G>A (n.5771-37G>A)
c.5834-37G>A (n.5834-37G>A)
c.5882-37G>A (n.5882-37G>A)
c.5864-37G>A (n.5864-37G>A)
c.5792-37G>A (n.5792-37G>A)
c.5819-37G>A (n.5819-37G>A)
c.5822-37G>A (n.5822-37G>A)
c.5861-37G>A (n.5861-37G>A)
c.5831-37G>A (n.5831-37G>A)
n.2653-37G>A
c.5726-37G>A (n.5726-37G>A)
c.5789-37G>A (n.5789-37G>A)
c.5729-37G>A (n.5729-37G>A)
c.5927-37G>A (n.5927-37G>A)
c.5924-37G>A (n.5924-37G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71679020G>CCA1707537DYSFc.3299-37G>C (n.3299-37G>C)
c.2516-37G>C (n.2516-37G>C)
c.2624-37G>C (n.2624-37G>C)
c.5768-37G>C (n.5768-37G>C)
c.5885-37G>C (n.5885-37G>C)
c.5771-37G>C (n.5771-37G>C)
c.5834-37G>C (n.5834-37G>C)
c.5882-37G>C (n.5882-37G>C)
c.5864-37G>C (n.5864-37G>C)
c.5792-37G>C (n.5792-37G>C)
c.5819-37G>C (n.5819-37G>C)
c.5822-37G>C (n.5822-37G>C)
c.5861-37G>C (n.5861-37G>C)
c.5831-37G>C (n.5831-37G>C)
n.2653-37G>C
c.5726-37G>C (n.5726-37G>C)
c.5789-37G>C (n.5789-37G>C)
c.5729-37G>C (n.5729-37G>C)
c.5927-37G>C (n.5927-37G>C)
c.5924-37G>C (n.5924-37G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71679020G=CA1260156802DYSFc.3299-37G= (n.3299-37G=)
c.2516-37G= (n.2516-37G=)
c.2624-37G= (n.2624-37G=)
c.5768-37G= (n.5768-37G=)
c.5885-37G= (n.5885-37G=)
c.5771-37G= (n.5771-37G=)
c.5834-37G= (n.5834-37G=)
c.5882-37G= (n.5882-37G=)
c.5864-37G= (n.5864-37G=)
c.5792-37G= (n.5792-37G=)
c.5819-37G= (n.5819-37G=)
c.5822-37G= (n.5822-37G=)
c.5861-37G= (n.5861-37G=)
c.5831-37G= (n.5831-37G=)
n.2653-37G=
c.5726-37G= (n.5726-37G=)
c.5789-37G= (n.5789-37G=)
c.5729-37G= (n.5729-37G=)
c.5927-37G= (n.5927-37G=)
c.5924-37G= (n.5924-37G=)
2g.71679020G>TCA1707535DYSFc.3299-37G>T (n.3299-37G>T)
c.2516-37G>T (n.2516-37G>T)
c.2624-37G>T (n.2624-37G>T)
c.5768-37G>T (n.5768-37G>T)
c.5885-37G>T (n.5885-37G>T)
c.5771-37G>T (n.5771-37G>T)
c.5834-37G>T (n.5834-37G>T)
c.5882-37G>T (n.5882-37G>T)
c.5864-37G>T (n.5864-37G>T)
c.5792-37G>T (n.5792-37G>T)
c.5819-37G>T (n.5819-37G>T)
c.5822-37G>T (n.5822-37G>T)
c.5861-37G>T (n.5861-37G>T)
c.5831-37G>T (n.5831-37G>T)
n.2653-37G>T
c.5726-37G>T (n.5726-37G>T)
c.5789-37G>T (n.5789-37G>T)
c.5729-37G>T (n.5729-37G>T)
c.5927-37G>T (n.5927-37G>T)
c.5924-37G>T (n.5924-37G>T)
 dbSNP ExAC gnomAD v4
2g.71679021A>GCA2659556019DYSFc.3299-36A>G (n.3299-36A>G)
c.2516-36A>G (n.2516-36A>G)
c.2624-36A>G (n.2624-36A>G)
c.5768-36A>G (n.5768-36A>G)
c.5885-36A>G (n.5885-36A>G)
c.5771-36A>G (n.5771-36A>G)
c.5834-36A>G (n.5834-36A>G)
c.5882-36A>G (n.5882-36A>G)
c.5864-36A>G (n.5864-36A>G)
c.5792-36A>G (n.5792-36A>G)
c.5819-36A>G (n.5819-36A>G)
c.5822-36A>G (n.5822-36A>G)
c.5861-36A>G (n.5861-36A>G)
c.5831-36A>G (n.5831-36A>G)
n.2653-36A>G
c.5726-36A>G (n.5726-36A>G)
c.5789-36A>G (n.5789-36A>G)
c.5729-36A>G (n.5729-36A>G)
c.5927-36A>G (n.5927-36A>G)
c.5924-36A>G (n.5924-36A>G)
 gnomAD v4
2g.71679022G>ACA2659556020DYSFc.3299-35G>A (n.3299-35G>A)
c.2516-35G>A (n.2516-35G>A)
c.2624-35G>A (n.2624-35G>A)
c.5768-35G>A (n.5768-35G>A)
c.5885-35G>A (n.5885-35G>A)
c.5771-35G>A (n.5771-35G>A)
c.5834-35G>A (n.5834-35G>A)
c.5882-35G>A (n.5882-35G>A)
c.5864-35G>A (n.5864-35G>A)
c.5792-35G>A (n.5792-35G>A)
c.5819-35G>A (n.5819-35G>A)
c.5822-35G>A (n.5822-35G>A)
c.5861-35G>A (n.5861-35G>A)
c.5831-35G>A (n.5831-35G>A)
n.2653-35G>A
c.5726-35G>A (n.5726-35G>A)
c.5789-35G>A (n.5789-35G>A)
c.5729-35G>A (n.5729-35G>A)
c.5927-35G>A (n.5927-35G>A)
c.5924-35G>A (n.5924-35G>A)
 gnomAD v4
2g.71679022G>CCA2659556021DYSFc.3299-35G>C (n.3299-35G>C)
c.2516-35G>C (n.2516-35G>C)
c.2624-35G>C (n.2624-35G>C)
c.5768-35G>C (n.5768-35G>C)
c.5885-35G>C (n.5885-35G>C)
c.5771-35G>C (n.5771-35G>C)
c.5834-35G>C (n.5834-35G>C)
c.5882-35G>C (n.5882-35G>C)
c.5864-35G>C (n.5864-35G>C)
c.5792-35G>C (n.5792-35G>C)
c.5819-35G>C (n.5819-35G>C)
c.5822-35G>C (n.5822-35G>C)
c.5861-35G>C (n.5861-35G>C)
c.5831-35G>C (n.5831-35G>C)
n.2653-35G>C
c.5726-35G>C (n.5726-35G>C)
c.5789-35G>C (n.5789-35G>C)
c.5729-35G>C (n.5729-35G>C)
c.5927-35G>C (n.5927-35G>C)
c.5924-35G>C (n.5924-35G>C)
 gnomAD v4
2g.71679024A>CCA2659556022DYSFc.3299-33A>C (n.3299-33A>C)
c.2516-33A>C (n.2516-33A>C)
c.2624-33A>C (n.2624-33A>C)
c.5768-33A>C (n.5768-33A>C)
c.5885-33A>C (n.5885-33A>C)
c.5771-33A>C (n.5771-33A>C)
c.5834-33A>C (n.5834-33A>C)
c.5882-33A>C (n.5882-33A>C)
c.5864-33A>C (n.5864-33A>C)
c.5792-33A>C (n.5792-33A>C)
c.5819-33A>C (n.5819-33A>C)
c.5822-33A>C (n.5822-33A>C)
c.5861-33A>C (n.5861-33A>C)
c.5831-33A>C (n.5831-33A>C)
n.2653-33A>C
c.5726-33A>C (n.5726-33A>C)
c.5789-33A>C (n.5789-33A>C)
c.5729-33A>C (n.5729-33A>C)
c.5927-33A>C (n.5927-33A>C)
c.5924-33A>C (n.5924-33A>C)
 gnomAD v4
2g.71679025A=CA1260156804DYSFc.3299-32A= (n.3299-32A=)
c.2516-32A= (n.2516-32A=)
c.2624-32A= (n.2624-32A=)
c.5768-32A= (n.5768-32A=)
c.5885-32A= (n.5885-32A=)
c.5771-32A= (n.5771-32A=)
c.5834-32A= (n.5834-32A=)
c.5882-32A= (n.5882-32A=)
c.5864-32A= (n.5864-32A=)
c.5792-32A= (n.5792-32A=)
c.5819-32A= (n.5819-32A=)
c.5822-32A= (n.5822-32A=)
c.5861-32A= (n.5861-32A=)
c.5831-32A= (n.5831-32A=)
n.2653-32A=
c.5726-32A= (n.5726-32A=)
c.5789-32A= (n.5789-32A=)
c.5729-32A= (n.5729-32A=)
c.5927-32A= (n.5927-32A=)
c.5924-32A= (n.5924-32A=)
2g.71679025A>CCA1260156803DYSFc.3299-32A>C (n.3299-32A>C)
c.2516-32A>C (n.2516-32A>C)
c.2624-32A>C (n.2624-32A>C)
c.5768-32A>C (n.5768-32A>C)
c.5885-32A>C (n.5885-32A>C)
c.5771-32A>C (n.5771-32A>C)
c.5834-32A>C (n.5834-32A>C)
c.5882-32A>C (n.5882-32A>C)
c.5864-32A>C (n.5864-32A>C)
c.5792-32A>C (n.5792-32A>C)
c.5819-32A>C (n.5819-32A>C)
c.5822-32A>C (n.5822-32A>C)
c.5861-32A>C (n.5861-32A>C)
c.5831-32A>C (n.5831-32A>C)
n.2653-32A>C
c.5726-32A>C (n.5726-32A>C)
c.5789-32A>C (n.5789-32A>C)
c.5729-32A>C (n.5729-32A>C)
c.5927-32A>C (n.5927-32A>C)
c.5924-32A>C (n.5924-32A>C)
 dbSNP
2g.71679025A>GCA49774251DYSFc.3299-32A>G (n.3299-32A>G)
c.2516-32A>G (n.2516-32A>G)
c.2624-32A>G (n.2624-32A>G)
c.5768-32A>G (n.5768-32A>G)
c.5885-32A>G (n.5885-32A>G)
c.5771-32A>G (n.5771-32A>G)
c.5834-32A>G (n.5834-32A>G)
c.5882-32A>G (n.5882-32A>G)
c.5864-32A>G (n.5864-32A>G)
c.5792-32A>G (n.5792-32A>G)
c.5819-32A>G (n.5819-32A>G)
c.5822-32A>G (n.5822-32A>G)
c.5861-32A>G (n.5861-32A>G)
c.5831-32A>G (n.5831-32A>G)
n.2653-32A>G
c.5726-32A>G (n.5726-32A>G)
c.5789-32A>G (n.5789-32A>G)
c.5729-32A>G (n.5729-32A>G)
c.5927-32A>G (n.5927-32A>G)
c.5924-32A>G (n.5924-32A>G)
 ClinVar dbSNP
2g.71679026C>ACA1260156806DYSFc.3299-31C>A (n.3299-31C>A)
c.2516-31C>A (n.2516-31C>A)
c.2624-31C>A (n.2624-31C>A)
c.5768-31C>A (n.5768-31C>A)
c.5885-31C>A (n.5885-31C>A)
c.5771-31C>A (n.5771-31C>A)
c.5834-31C>A (n.5834-31C>A)
c.5882-31C>A (n.5882-31C>A)
c.5864-31C>A (n.5864-31C>A)
c.5792-31C>A (n.5792-31C>A)
c.5819-31C>A (n.5819-31C>A)
c.5822-31C>A (n.5822-31C>A)
c.5861-31C>A (n.5861-31C>A)
c.5831-31C>A (n.5831-31C>A)
n.2653-31C>A
c.5726-31C>A (n.5726-31C>A)
c.5789-31C>A (n.5789-31C>A)
c.5729-31C>A (n.5729-31C>A)
c.5927-31C>A (n.5927-31C>A)
c.5924-31C>A (n.5924-31C>A)
 dbSNP
2g.71679026C=CA1260156805DYSFc.3299-31C= (n.3299-31C=)
c.2516-31C= (n.2516-31C=)
c.2624-31C= (n.2624-31C=)
c.5768-31C= (n.5768-31C=)
c.5885-31C= (n.5885-31C=)
c.5771-31C= (n.5771-31C=)
c.5834-31C= (n.5834-31C=)
c.5882-31C= (n.5882-31C=)
c.5864-31C= (n.5864-31C=)
c.5792-31C= (n.5792-31C=)
c.5819-31C= (n.5819-31C=)
c.5822-31C= (n.5822-31C=)
c.5861-31C= (n.5861-31C=)
c.5831-31C= (n.5831-31C=)
n.2653-31C=
c.5726-31C= (n.5726-31C=)
c.5789-31C= (n.5789-31C=)
c.5729-31C= (n.5729-31C=)
c.5927-31C= (n.5927-31C=)
c.5924-31C= (n.5924-31C=)
2g.71679026C>TCA533655821DYSFc.3299-31C>T (n.3299-31C>T)
c.2516-31C>T (n.2516-31C>T)
c.2624-31C>T (n.2624-31C>T)
c.5768-31C>T (n.5768-31C>T)
c.5885-31C>T (n.5885-31C>T)
c.5771-31C>T (n.5771-31C>T)
c.5834-31C>T (n.5834-31C>T)
c.5882-31C>T (n.5882-31C>T)
c.5864-31C>T (n.5864-31C>T)
c.5792-31C>T (n.5792-31C>T)
c.5819-31C>T (n.5819-31C>T)
c.5822-31C>T (n.5822-31C>T)
c.5861-31C>T (n.5861-31C>T)
c.5831-31C>T (n.5831-31C>T)
n.2653-31C>T
c.5726-31C>T (n.5726-31C>T)
c.5789-31C>T (n.5789-31C>T)
c.5729-31C>T (n.5729-31C>T)
c.5927-31C>T (n.5927-31C>T)
c.5924-31C>T (n.5924-31C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.71679027C>ACA1707538DYSFc.3299-30C>A (n.3299-30C>A)
c.2516-30C>A (n.2516-30C>A)
c.2624-30C>A (n.2624-30C>A)
c.5768-30C>A (n.5768-30C>A)
c.5885-30C>A (n.5885-30C>A)
c.5771-30C>A (n.5771-30C>A)
c.5834-30C>A (n.5834-30C>A)
c.5882-30C>A (n.5882-30C>A)
c.5864-30C>A (n.5864-30C>A)
c.5792-30C>A (n.5792-30C>A)
c.5819-30C>A (n.5819-30C>A)
c.5822-30C>A (n.5822-30C>A)
c.5861-30C>A (n.5861-30C>A)
c.5831-30C>A (n.5831-30C>A)
n.2653-30C>A
c.5726-30C>A (n.5726-30C>A)
c.5789-30C>A (n.5789-30C>A)
c.5729-30C>A (n.5729-30C>A)
c.5927-30C>A (n.5927-30C>A)
c.5924-30C>A (n.5924-30C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71679027C=CA1260156807DYSFc.3299-30C= (n.3299-30C=)
c.2516-30C= (n.2516-30C=)
c.2624-30C= (n.2624-30C=)
c.5768-30C= (n.5768-30C=)
c.5885-30C= (n.5885-30C=)
c.5771-30C= (n.5771-30C=)
c.5834-30C= (n.5834-30C=)
c.5882-30C= (n.5882-30C=)
c.5864-30C= (n.5864-30C=)
c.5792-30C= (n.5792-30C=)
c.5819-30C= (n.5819-30C=)
c.5822-30C= (n.5822-30C=)
c.5861-30C= (n.5861-30C=)
c.5831-30C= (n.5831-30C=)
n.2653-30C=
c.5726-30C= (n.5726-30C=)
c.5789-30C= (n.5789-30C=)
c.5729-30C= (n.5729-30C=)
c.5927-30C= (n.5927-30C=)
c.5924-30C= (n.5924-30C=)
2g.71679028C>ACA2659556023DYSFc.3299-29C>A (n.3299-29C>A)
c.2516-29C>A (n.2516-29C>A)
c.2624-29C>A (n.2624-29C>A)
c.5768-29C>A (n.5768-29C>A)
c.5885-29C>A (n.5885-29C>A)
c.5771-29C>A (n.5771-29C>A)
c.5834-29C>A (n.5834-29C>A)
c.5882-29C>A (n.5882-29C>A)
c.5864-29C>A (n.5864-29C>A)
c.5792-29C>A (n.5792-29C>A)
c.5819-29C>A (n.5819-29C>A)
c.5822-29C>A (n.5822-29C>A)
c.5861-29C>A (n.5861-29C>A)
c.5831-29C>A (n.5831-29C>A)
n.2653-29C>A
c.5726-29C>A (n.5726-29C>A)
c.5789-29C>A (n.5789-29C>A)
c.5729-29C>A (n.5729-29C>A)
c.5927-29C>A (n.5927-29C>A)
c.5924-29C>A (n.5924-29C>A)
 gnomAD v4
2g.71679028C=CA1260156808DYSFc.3299-29C= (n.3299-29C=)
c.2516-29C= (n.2516-29C=)
c.2624-29C= (n.2624-29C=)
c.5768-29C= (n.5768-29C=)
c.5885-29C= (n.5885-29C=)
c.5771-29C= (n.5771-29C=)
c.5834-29C= (n.5834-29C=)
c.5882-29C= (n.5882-29C=)
c.5864-29C= (n.5864-29C=)
c.5792-29C= (n.5792-29C=)
c.5819-29C= (n.5819-29C=)
c.5822-29C= (n.5822-29C=)
c.5861-29C= (n.5861-29C=)
c.5831-29C= (n.5831-29C=)
n.2653-29C=
c.5726-29C= (n.5726-29C=)
c.5789-29C= (n.5789-29C=)
c.5729-29C= (n.5729-29C=)
c.5927-29C= (n.5927-29C=)
c.5924-29C= (n.5924-29C=)
2g.71679028C>TCA533655822DYSFc.3299-29C>T (n.3299-29C>T)
c.2516-29C>T (n.2516-29C>T)
c.2624-29C>T (n.2624-29C>T)
c.5768-29C>T (n.5768-29C>T)
c.5885-29C>T (n.5885-29C>T)
c.5771-29C>T (n.5771-29C>T)
c.5834-29C>T (n.5834-29C>T)
c.5882-29C>T (n.5882-29C>T)
c.5864-29C>T (n.5864-29C>T)
c.5792-29C>T (n.5792-29C>T)
c.5819-29C>T (n.5819-29C>T)
c.5822-29C>T (n.5822-29C>T)
c.5861-29C>T (n.5861-29C>T)
c.5831-29C>T (n.5831-29C>T)
n.2653-29C>T
c.5726-29C>T (n.5726-29C>T)
c.5789-29C>T (n.5789-29C>T)
c.5729-29C>T (n.5729-29C>T)
c.5927-29C>T (n.5927-29C>T)
c.5924-29C>T (n.5924-29C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.71679030delCA2577000905DYSFc.3299-27del (n.3299-27del)
c.2516-27del (n.2516-27del)
c.2624-27del (n.2624-27del)
c.5768-27del (n.5768-27del)
c.5885-27del (n.5885-27del)
c.5771-27del (n.5771-27del)
c.5834-27del (n.5834-27del)
c.5882-27del (n.5882-27del)
c.5864-27del (n.5864-27del)
c.5792-27del (n.5792-27del)
c.5819-27del (n.5819-27del)
c.5822-27del (n.5822-27del)
c.5861-27del (n.5861-27del)
c.5831-27del (n.5831-27del)
n.2653-27del
c.5726-27del (n.5726-27del)
c.5789-27del (n.5789-27del)
c.5729-27del (n.5729-27del)
c.5927-27del (n.5927-27del)
c.5924-27del (n.5924-27del)
2g.71679030T>GCA2659556024DYSFc.3299-27T>G (n.3299-27T>G)
c.2516-27T>G (n.2516-27T>G)
c.2624-27T>G (n.2624-27T>G)
c.5768-27T>G (n.5768-27T>G)
c.5885-27T>G (n.5885-27T>G)
c.5771-27T>G (n.5771-27T>G)
c.5834-27T>G (n.5834-27T>G)
c.5882-27T>G (n.5882-27T>G)
c.5864-27T>G (n.5864-27T>G)
c.5792-27T>G (n.5792-27T>G)
c.5819-27T>G (n.5819-27T>G)
c.5822-27T>G (n.5822-27T>G)
c.5861-27T>G (n.5861-27T>G)
c.5831-27T>G (n.5831-27T>G)
n.2653-27T>G
c.5726-27T>G (n.5726-27T>G)
c.5789-27T>G (n.5789-27T>G)
c.5729-27T>G (n.5729-27T>G)
c.5927-27T>G (n.5927-27T>G)
c.5924-27T>G (n.5924-27T>G)
 dbSNP gnomAD v4
2g.71679031G>TCA2577000906DYSFc.3299-26G>T (n.3299-26G>T)
c.2516-26G>T (n.2516-26G>T)
c.2624-26G>T (n.2624-26G>T)
c.5768-26G>T (n.5768-26G>T)
c.5885-26G>T (n.5885-26G>T)
c.5771-26G>T (n.5771-26G>T)
c.5834-26G>T (n.5834-26G>T)
c.5882-26G>T (n.5882-26G>T)
c.5864-26G>T (n.5864-26G>T)
c.5792-26G>T (n.5792-26G>T)
c.5819-26G>T (n.5819-26G>T)
c.5822-26G>T (n.5822-26G>T)
c.5861-26G>T (n.5861-26G>T)
c.5831-26G>T (n.5831-26G>T)
n.2653-26G>T
c.5726-26G>T (n.5726-26G>T)
c.5789-26G>T (n.5789-26G>T)
c.5729-26G>T (n.5729-26G>T)
c.5927-26G>T (n.5927-26G>T)
c.5924-26G>T (n.5924-26G>T)
2g.71679032G>ACA2659556025DYSFc.3299-25G>A (n.3299-25G>A)
c.2516-25G>A (n.2516-25G>A)
c.2624-25G>A (n.2624-25G>A)
c.5768-25G>A (n.5768-25G>A)
c.5885-25G>A (n.5885-25G>A)
c.5771-25G>A (n.5771-25G>A)
c.5834-25G>A (n.5834-25G>A)
c.5882-25G>A (n.5882-25G>A)
c.5864-25G>A (n.5864-25G>A)
c.5792-25G>A (n.5792-25G>A)
c.5819-25G>A (n.5819-25G>A)
c.5822-25G>A (n.5822-25G>A)
c.5861-25G>A (n.5861-25G>A)
c.5831-25G>A (n.5831-25G>A)
n.2653-25G>A
c.5726-25G>A (n.5726-25G>A)
c.5789-25G>A (n.5789-25G>A)
c.5729-25G>A (n.5729-25G>A)
c.5927-25G>A (n.5927-25G>A)
c.5924-25G>A (n.5924-25G>A)
 gnomAD v4
2g.71679032G=CA1260156809DYSFc.3299-25G= (n.3299-25G=)
c.2516-25G= (n.2516-25G=)
c.2624-25G= (n.2624-25G=)
c.5768-25G= (n.5768-25G=)
c.5885-25G= (n.5885-25G=)
c.5771-25G= (n.5771-25G=)
c.5834-25G= (n.5834-25G=)
c.5882-25G= (n.5882-25G=)
c.5864-25G= (n.5864-25G=)
c.5792-25G= (n.5792-25G=)
c.5819-25G= (n.5819-25G=)
c.5822-25G= (n.5822-25G=)
c.5861-25G= (n.5861-25G=)
c.5831-25G= (n.5831-25G=)
n.2653-25G=
c.5726-25G= (n.5726-25G=)
c.5789-25G= (n.5789-25G=)
c.5729-25G= (n.5729-25G=)
c.5927-25G= (n.5927-25G=)
c.5924-25G= (n.5924-25G=)
2g.71679032G>TCA533655823DYSFc.3299-25G>T (n.3299-25G>T)
c.2516-25G>T (n.2516-25G>T)
c.2624-25G>T (n.2624-25G>T)
c.5768-25G>T (n.5768-25G>T)
c.5885-25G>T (n.5885-25G>T)
c.5771-25G>T (n.5771-25G>T)
c.5834-25G>T (n.5834-25G>T)
c.5882-25G>T (n.5882-25G>T)
c.5864-25G>T (n.5864-25G>T)
c.5792-25G>T (n.5792-25G>T)
c.5819-25G>T (n.5819-25G>T)
c.5822-25G>T (n.5822-25G>T)
c.5861-25G>T (n.5861-25G>T)
c.5831-25G>T (n.5831-25G>T)
n.2653-25G>T
c.5726-25G>T (n.5726-25G>T)
c.5789-25G>T (n.5789-25G>T)
c.5729-25G>T (n.5729-25G>T)
c.5927-25G>T (n.5927-25G>T)
c.5924-25G>T (n.5924-25G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.71679033C>ACA2659556026DYSFc.3299-24C>A (n.3299-24C>A)
c.2516-24C>A (n.2516-24C>A)
c.2624-24C>A (n.2624-24C>A)
c.5768-24C>A (n.5768-24C>A)
c.5885-24C>A (n.5885-24C>A)
c.5771-24C>A (n.5771-24C>A)
c.5834-24C>A (n.5834-24C>A)
c.5882-24C>A (n.5882-24C>A)
c.5864-24C>A (n.5864-24C>A)
c.5792-24C>A (n.5792-24C>A)
c.5819-24C>A (n.5819-24C>A)
c.5822-24C>A (n.5822-24C>A)
c.5861-24C>A (n.5861-24C>A)
c.5831-24C>A (n.5831-24C>A)
n.2653-24C>A
c.5726-24C>A (n.5726-24C>A)
c.5789-24C>A (n.5789-24C>A)
c.5729-24C>A (n.5729-24C>A)
c.5927-24C>A (n.5927-24C>A)
c.5924-24C>A (n.5924-24C>A)
 gnomAD v4
2g.71679034C=CA1260156810DYSFc.3299-23C= (n.3299-23C=)
c.2516-23C= (n.2516-23C=)
c.2624-23C= (n.2624-23C=)
c.5768-23C= (n.5768-23C=)
c.5885-23C= (n.5885-23C=)
c.5771-23C= (n.5771-23C=)
c.5834-23C= (n.5834-23C=)
c.5882-23C= (n.5882-23C=)
c.5864-23C= (n.5864-23C=)
c.5792-23C= (n.5792-23C=)
c.5819-23C= (n.5819-23C=)
c.5822-23C= (n.5822-23C=)
c.5861-23C= (n.5861-23C=)
c.5831-23C= (n.5831-23C=)
n.2653-23C=
c.5726-23C= (n.5726-23C=)
c.5789-23C= (n.5789-23C=)
c.5729-23C= (n.5729-23C=)
c.5927-23C= (n.5927-23C=)
c.5924-23C= (n.5924-23C=)
2g.71679034C>TCA49774270DYSFc.3299-23C>T (n.3299-23C>T)
c.2516-23C>T (n.2516-23C>T)
c.2624-23C>T (n.2624-23C>T)
c.5768-23C>T (n.5768-23C>T)
c.5885-23C>T (n.5885-23C>T)
c.5771-23C>T (n.5771-23C>T)
c.5834-23C>T (n.5834-23C>T)
c.5882-23C>T (n.5882-23C>T)
c.5864-23C>T (n.5864-23C>T)
c.5792-23C>T (n.5792-23C>T)
c.5819-23C>T (n.5819-23C>T)
c.5822-23C>T (n.5822-23C>T)
c.5861-23C>T (n.5861-23C>T)
c.5831-23C>T (n.5831-23C>T)
n.2653-23C>T
c.5726-23C>T (n.5726-23C>T)
c.5789-23C>T (n.5789-23C>T)
c.5729-23C>T (n.5729-23C>T)
c.5927-23C>T (n.5927-23C>T)
c.5924-23C>T (n.5924-23C>T)
 dbSNP
2g.71679035A>GCA2659556028DYSFc.3299-22A>G (n.3299-22A>G)
c.2516-22A>G (n.2516-22A>G)
c.2624-22A>G (n.2624-22A>G)
c.5768-22A>G (n.5768-22A>G)
c.5885-22A>G (n.5885-22A>G)
c.5771-22A>G (n.5771-22A>G)
c.5834-22A>G (n.5834-22A>G)
c.5882-22A>G (n.5882-22A>G)
c.5864-22A>G (n.5864-22A>G)
c.5792-22A>G (n.5792-22A>G)
c.5819-22A>G (n.5819-22A>G)
c.5822-22A>G (n.5822-22A>G)
c.5861-22A>G (n.5861-22A>G)
c.5831-22A>G (n.5831-22A>G)
n.2653-22A>G
c.5726-22A>G (n.5726-22A>G)
c.5789-22A>G (n.5789-22A>G)
c.5729-22A>G (n.5729-22A>G)
c.5927-22A>G (n.5927-22A>G)
c.5924-22A>G (n.5924-22A>G)
 gnomAD v4
2g.71679035A>TCA2659556029DYSFc.3299-22A>T (n.3299-22A>T)
c.2516-22A>T (n.2516-22A>T)
c.2624-22A>T (n.2624-22A>T)
c.5768-22A>T (n.5768-22A>T)
c.5885-22A>T (n.5885-22A>T)
c.5771-22A>T (n.5771-22A>T)
c.5834-22A>T (n.5834-22A>T)
c.5882-22A>T (n.5882-22A>T)
c.5864-22A>T (n.5864-22A>T)
c.5792-22A>T (n.5792-22A>T)
c.5819-22A>T (n.5819-22A>T)
c.5822-22A>T (n.5822-22A>T)
c.5861-22A>T (n.5861-22A>T)
c.5831-22A>T (n.5831-22A>T)
n.2653-22A>T
c.5726-22A>T (n.5726-22A>T)
c.5789-22A>T (n.5789-22A>T)
c.5729-22A>T (n.5729-22A>T)
c.5927-22A>T (n.5927-22A>T)
c.5924-22A>T (n.5924-22A>T)
 gnomAD v4
2g.71679039delCA2659556027DYSFc.3299-18del (n.3299-18del)
c.2516-18del (n.2516-18del)
c.2624-18del (n.2624-18del)
c.5768-18del (n.5768-18del)
c.5885-18del (n.5885-18del)
c.5771-18del (n.5771-18del)
c.5834-18del (n.5834-18del)
c.5882-18del (n.5882-18del)
c.5864-18del (n.5864-18del)
c.5792-18del (n.5792-18del)
c.5819-18del (n.5819-18del)
c.5822-18del (n.5822-18del)
c.5861-18del (n.5861-18del)
c.5831-18del (n.5831-18del)
n.2653-18del
c.5726-18del (n.5726-18del)
c.5789-18del (n.5789-18del)
c.5729-18del (n.5729-18del)
c.5927-18del (n.5927-18del)
c.5924-18del (n.5924-18del)
 gnomAD v4
2g.71679036A>GCA2577000907DYSFc.3299-21A>G (n.3299-21A>G)
c.2516-21A>G (n.2516-21A>G)
c.2624-21A>G (n.2624-21A>G)
c.5768-21A>G (n.5768-21A>G)
c.5885-21A>G (n.5885-21A>G)
c.5771-21A>G (n.5771-21A>G)
c.5834-21A>G (n.5834-21A>G)
c.5882-21A>G (n.5882-21A>G)
c.5864-21A>G (n.5864-21A>G)
c.5792-21A>G (n.5792-21A>G)
c.5819-21A>G (n.5819-21A>G)
c.5822-21A>G (n.5822-21A>G)
c.5861-21A>G (n.5861-21A>G)
c.5831-21A>G (n.5831-21A>G)
n.2653-21A>G
c.5726-21A>G (n.5726-21A>G)
c.5789-21A>G (n.5789-21A>G)
c.5729-21A>G (n.5729-21A>G)
c.5927-21A>G (n.5927-21A>G)
c.5924-21A>G (n.5924-21A>G)
 gnomAD v4
2g.71679037A=CA1260156811DYSFc.3299-20A= (n.3299-20A=)
c.2516-20A= (n.2516-20A=)
c.2624-20A= (n.2624-20A=)
c.5768-20A= (n.5768-20A=)
c.5885-20A= (n.5885-20A=)
c.5771-20A= (n.5771-20A=)
c.5834-20A= (n.5834-20A=)
c.5882-20A= (n.5882-20A=)
c.5864-20A= (n.5864-20A=)
c.5792-20A= (n.5792-20A=)
c.5819-20A= (n.5819-20A=)
c.5822-20A= (n.5822-20A=)
c.5861-20A= (n.5861-20A=)
c.5831-20A= (n.5831-20A=)
n.2653-20A=
c.5726-20A= (n.5726-20A=)
c.5789-20A= (n.5789-20A=)
c.5729-20A= (n.5729-20A=)
c.5927-20A= (n.5927-20A=)
c.5924-20A= (n.5924-20A=)
2g.71679037A>GCA49774275DYSFc.3299-20A>G (n.3299-20A>G)
c.2516-20A>G (n.2516-20A>G)
c.2624-20A>G (n.2624-20A>G)
c.5768-20A>G (n.5768-20A>G)
c.5885-20A>G (n.5885-20A>G)
c.5771-20A>G (n.5771-20A>G)
c.5834-20A>G (n.5834-20A>G)
c.5882-20A>G (n.5882-20A>G)
c.5864-20A>G (n.5864-20A>G)
c.5792-20A>G (n.5792-20A>G)
c.5819-20A>G (n.5819-20A>G)
c.5822-20A>G (n.5822-20A>G)
c.5861-20A>G (n.5861-20A>G)
c.5831-20A>G (n.5831-20A>G)
n.2653-20A>G
c.5726-20A>G (n.5726-20A>G)
c.5789-20A>G (n.5789-20A>G)
c.5729-20A>G (n.5729-20A>G)
c.5927-20A>G (n.5927-20A>G)
c.5924-20A>G (n.5924-20A>G)
 dbSNP gnomAD v4
2g.71679040C>ACA2750418433DYSFc.3299-17C>A (n.3299-17C>A)
c.2516-17C>A (n.2516-17C>A)
c.2624-17C>A (n.2624-17C>A)
c.5768-17C>A (n.5768-17C>A)
c.5885-17C>A (n.5885-17C>A)
c.5771-17C>A (n.5771-17C>A)
c.5834-17C>A (n.5834-17C>A)
c.5882-17C>A (n.5882-17C>A)
c.5864-17C>A (n.5864-17C>A)
c.5792-17C>A (n.5792-17C>A)
c.5819-17C>A (n.5819-17C>A)
c.5822-17C>A (n.5822-17C>A)
c.5861-17C>A (n.5861-17C>A)
c.5831-17C>A (n.5831-17C>A)
n.2653-17C>A
c.5726-17C>A (n.5726-17C>A)
c.5789-17C>A (n.5789-17C>A)
c.5729-17C>A (n.5729-17C>A)
c.5927-17C>A (n.5927-17C>A)
c.5924-17C>A (n.5924-17C>A)
2g.71679040C=CA1260156812DYSFc.3299-17C= (n.3299-17C=)
c.2516-17C= (n.2516-17C=)
c.2624-17C= (n.2624-17C=)
c.5768-17C= (n.5768-17C=)
c.5885-17C= (n.5885-17C=)
c.5771-17C= (n.5771-17C=)
c.5834-17C= (n.5834-17C=)
c.5882-17C= (n.5882-17C=)
c.5864-17C= (n.5864-17C=)
c.5792-17C= (n.5792-17C=)
c.5819-17C= (n.5819-17C=)
c.5822-17C= (n.5822-17C=)
c.5861-17C= (n.5861-17C=)
c.5831-17C= (n.5831-17C=)
n.2653-17C=
c.5726-17C= (n.5726-17C=)
c.5789-17C= (n.5789-17C=)
c.5729-17C= (n.5729-17C=)
c.5927-17C= (n.5927-17C=)
c.5924-17C= (n.5924-17C=)
2g.71679040C>GCA1707539DYSFc.3299-17C>G (n.3299-17C>G)
c.2516-17C>G (n.2516-17C>G)
c.2624-17C>G (n.2624-17C>G)
c.5768-17C>G (n.5768-17C>G)
c.5885-17C>G (n.5885-17C>G)
c.5771-17C>G (n.5771-17C>G)
c.5834-17C>G (n.5834-17C>G)
c.5882-17C>G (n.5882-17C>G)
c.5864-17C>G (n.5864-17C>G)
c.5792-17C>G (n.5792-17C>G)
c.5819-17C>G (n.5819-17C>G)
c.5822-17C>G (n.5822-17C>G)
c.5861-17C>G (n.5861-17C>G)
c.5831-17C>G (n.5831-17C>G)
n.2653-17C>G
c.5726-17C>G (n.5726-17C>G)
c.5789-17C>G (n.5789-17C>G)
c.5729-17C>G (n.5729-17C>G)
c.5927-17C>G (n.5927-17C>G)
c.5924-17C>G (n.5924-17C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71679040C>TCA2577000908DYSFc.3299-17C>T (n.3299-17C>T)
c.2516-17C>T (n.2516-17C>T)
c.2624-17C>T (n.2624-17C>T)
c.5768-17C>T (n.5768-17C>T)
c.5885-17C>T (n.5885-17C>T)
c.5771-17C>T (n.5771-17C>T)
c.5834-17C>T (n.5834-17C>T)
c.5882-17C>T (n.5882-17C>T)
c.5864-17C>T (n.5864-17C>T)
c.5792-17C>T (n.5792-17C>T)
c.5819-17C>T (n.5819-17C>T)
c.5822-17C>T (n.5822-17C>T)
c.5861-17C>T (n.5861-17C>T)
c.5831-17C>T (n.5831-17C>T)
n.2653-17C>T
c.5726-17C>T (n.5726-17C>T)
c.5789-17C>T (n.5789-17C>T)
c.5729-17C>T (n.5729-17C>T)
c.5927-17C>T (n.5927-17C>T)
c.5924-17C>T (n.5924-17C>T)
 gnomAD v4
2g.71679040_71679041delinsGCCA2740095635DYSFc.3299-17_3299-16delinsGC (n.3299-17_3299-16delinsGC)
c.2516-17_2516-16delinsGC (n.2516-17_2516-16delinsGC)
c.2624-17_2624-16delinsGC (n.2624-17_2624-16delinsGC)
c.5768-17_5768-16delinsGC (n.5768-17_5768-16delinsGC)
c.5885-17_5885-16delinsGC (n.5885-17_5885-16delinsGC)
c.5771-17_5771-16delinsGC (n.5771-17_5771-16delinsGC)
c.5834-17_5834-16delinsGC (n.5834-17_5834-16delinsGC)
c.5882-17_5882-16delinsGC (n.5882-17_5882-16delinsGC)
c.5864-17_5864-16delinsGC (n.5864-17_5864-16delinsGC)
c.5792-17_5792-16delinsGC (n.5792-17_5792-16delinsGC)
c.5819-17_5819-16delinsGC (n.5819-17_5819-16delinsGC)
c.5822-17_5822-16delinsGC (n.5822-17_5822-16delinsGC)
c.5861-17_5861-16delinsGC (n.5861-17_5861-16delinsGC)
c.5831-17_5831-16delinsGC (n.5831-17_5831-16delinsGC)
n.2653-17_2653-16delinsGC
c.5726-17_5726-16delinsGC (n.5726-17_5726-16delinsGC)
c.5789-17_5789-16delinsGC (n.5789-17_5789-16delinsGC)
c.5729-17_5729-16delinsGC (n.5729-17_5729-16delinsGC)
c.5927-17_5927-16delinsGC (n.5927-17_5927-16delinsGC)
c.5924-17_5924-16delinsGC (n.5924-17_5924-16delinsGC)
 ClinVar
2g.71679041T>ACA1260156815DYSFc.3299-16T>A (n.3299-16T>A)
c.2516-16T>A (n.2516-16T>A)
c.2624-16T>A (n.2624-16T>A)
c.5768-16T>A (n.5768-16T>A)
c.5885-16T>A (n.5885-16T>A)
c.5771-16T>A (n.5771-16T>A)
c.5834-16T>A (n.5834-16T>A)
c.5882-16T>A (n.5882-16T>A)
c.5864-16T>A (n.5864-16T>A)
c.5792-16T>A (n.5792-16T>A)
c.5819-16T>A (n.5819-16T>A)
c.5822-16T>A (n.5822-16T>A)
c.5861-16T>A (n.5861-16T>A)
c.5831-16T>A (n.5831-16T>A)
n.2653-16T>A
c.5726-16T>A (n.5726-16T>A)
c.5789-16T>A (n.5789-16T>A)
c.5729-16T>A (n.5729-16T>A)
c.5927-16T>A (n.5927-16T>A)
c.5924-16T>A (n.5924-16T>A)
 dbSNP gnomAD v4
2g.71679041T>CCA147771DYSFc.3299-16T>C (n.3299-16T>C)
c.2516-16T>C (n.2516-16T>C)
c.2624-16T>C (n.2624-16T>C)
c.5768-16T>C (n.5768-16T>C)
c.5885-16T>C (n.5885-16T>C)
c.5771-16T>C (n.5771-16T>C)
c.5834-16T>C (n.5834-16T>C)
c.5882-16T>C (n.5882-16T>C)
c.5864-16T>C (n.5864-16T>C)
c.5792-16T>C (n.5792-16T>C)
c.5819-16T>C (n.5819-16T>C)
c.5822-16T>C (n.5822-16T>C)
c.5861-16T>C (n.5861-16T>C)
c.5831-16T>C (n.5831-16T>C)
n.2653-16T>C
c.5726-16T>C (n.5726-16T>C)
c.5789-16T>C (n.5789-16T>C)
c.5729-16T>C (n.5729-16T>C)
c.5927-16T>C (n.5927-16T>C)
c.5924-16T>C (n.5924-16T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71679041T>GCA1260156813DYSFc.3299-16T>G (n.3299-16T>G)
c.2516-16T>G (n.2516-16T>G)
c.2624-16T>G (n.2624-16T>G)
c.5768-16T>G (n.5768-16T>G)
c.5885-16T>G (n.5885-16T>G)
c.5771-16T>G (n.5771-16T>G)
c.5834-16T>G (n.5834-16T>G)
c.5882-16T>G (n.5882-16T>G)
c.5864-16T>G (n.5864-16T>G)
c.5792-16T>G (n.5792-16T>G)
c.5819-16T>G (n.5819-16T>G)
c.5822-16T>G (n.5822-16T>G)
c.5861-16T>G (n.5861-16T>G)
c.5831-16T>G (n.5831-16T>G)
n.2653-16T>G
c.5726-16T>G (n.5726-16T>G)
c.5789-16T>G (n.5789-16T>G)
c.5729-16T>G (n.5729-16T>G)
c.5927-16T>G (n.5927-16T>G)
c.5924-16T>G (n.5924-16T>G)
 dbSNP
2g.71679041T=CA1260156814DYSFc.3299-16T= (n.3299-16T=)
c.2516-16T= (n.2516-16T=)
c.2624-16T= (n.2624-16T=)
c.5768-16T= (n.5768-16T=)
c.5885-16T= (n.5885-16T=)
c.5771-16T= (n.5771-16T=)
c.5834-16T= (n.5834-16T=)
c.5882-16T= (n.5882-16T=)
c.5864-16T= (n.5864-16T=)
c.5792-16T= (n.5792-16T=)
c.5819-16T= (n.5819-16T=)
c.5822-16T= (n.5822-16T=)
c.5861-16T= (n.5861-16T=)
c.5831-16T= (n.5831-16T=)
n.2653-16T=
c.5726-16T= (n.5726-16T=)
c.5789-16T= (n.5789-16T=)
c.5729-16T= (n.5729-16T=)
c.5927-16T= (n.5927-16T=)
c.5924-16T= (n.5924-16T=)
2g.71679044C>ACA533655824DYSFc.3299-13C>A (n.3299-13C>A)
c.2516-13C>A (n.2516-13C>A)
c.2624-13C>A (n.2624-13C>A)
c.5768-13C>A (n.5768-13C>A)
c.5885-13C>A (n.5885-13C>A)
c.5771-13C>A (n.5771-13C>A)
c.5834-13C>A (n.5834-13C>A)
c.5882-13C>A (n.5882-13C>A)
c.5864-13C>A (n.5864-13C>A)
c.5792-13C>A (n.5792-13C>A)
c.5819-13C>A (n.5819-13C>A)
c.5822-13C>A (n.5822-13C>A)
c.5861-13C>A (n.5861-13C>A)
c.5831-13C>A (n.5831-13C>A)
n.2653-13C>A
c.5726-13C>A (n.5726-13C>A)
c.5789-13C>A (n.5789-13C>A)
c.5729-13C>A (n.5729-13C>A)
c.5927-13C>A (n.5927-13C>A)
c.5924-13C>A (n.5924-13C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.71679044C=CA1260156816DYSFc.3299-13C= (n.3299-13C=)
c.2516-13C= (n.2516-13C=)
c.2624-13C= (n.2624-13C=)
c.5768-13C= (n.5768-13C=)
c.5885-13C= (n.5885-13C=)
c.5771-13C= (n.5771-13C=)
c.5834-13C= (n.5834-13C=)
c.5882-13C= (n.5882-13C=)
c.5864-13C= (n.5864-13C=)
c.5792-13C= (n.5792-13C=)
c.5819-13C= (n.5819-13C=)
c.5822-13C= (n.5822-13C=)
c.5861-13C= (n.5861-13C=)
c.5831-13C= (n.5831-13C=)
n.2653-13C=
c.5726-13C= (n.5726-13C=)
c.5789-13C= (n.5789-13C=)
c.5729-13C= (n.5729-13C=)
c.5927-13C= (n.5927-13C=)
c.5924-13C= (n.5924-13C=)
2g.71679045T>ACA2697548261DYSFc.3299-12T>A (n.3299-12T>A)
c.2516-12T>A (n.2516-12T>A)
c.2624-12T>A (n.2624-12T>A)
c.5768-12T>A (n.5768-12T>A)
c.5885-12T>A (n.5885-12T>A)
c.5771-12T>A (n.5771-12T>A)
c.5834-12T>A (n.5834-12T>A)
c.5882-12T>A (n.5882-12T>A)
c.5864-12T>A (n.5864-12T>A)
c.5792-12T>A (n.5792-12T>A)
c.5819-12T>A (n.5819-12T>A)
c.5822-12T>A (n.5822-12T>A)
c.5861-12T>A (n.5861-12T>A)
c.5831-12T>A (n.5831-12T>A)
n.2653-12T>A
c.5726-12T>A (n.5726-12T>A)
c.5789-12T>A (n.5789-12T>A)
c.5729-12T>A (n.5729-12T>A)
c.5927-12T>A (n.5927-12T>A)
c.5924-12T>A (n.5924-12T>A)
 ClinVar
2g.71679045T>CCA2659556030DYSFc.3299-12T>C (n.3299-12T>C)
c.2516-12T>C (n.2516-12T>C)
c.2624-12T>C (n.2624-12T>C)
c.5768-12T>C (n.5768-12T>C)
c.5885-12T>C (n.5885-12T>C)
c.5771-12T>C (n.5771-12T>C)
c.5834-12T>C (n.5834-12T>C)
c.5882-12T>C (n.5882-12T>C)
c.5864-12T>C (n.5864-12T>C)
c.5792-12T>C (n.5792-12T>C)
c.5819-12T>C (n.5819-12T>C)
c.5822-12T>C (n.5822-12T>C)
c.5861-12T>C (n.5861-12T>C)
c.5831-12T>C (n.5831-12T>C)
n.2653-12T>C
c.5726-12T>C (n.5726-12T>C)
c.5789-12T>C (n.5789-12T>C)
c.5729-12T>C (n.5729-12T>C)
c.5927-12T>C (n.5927-12T>C)
c.5924-12T>C (n.5924-12T>C)
 ClinVar gnomAD v4
2g.71679046C>ACA2659556031DYSFc.3299-11C>A (n.3299-11C>A)
c.2516-11C>A (n.2516-11C>A)
c.2624-11C>A (n.2624-11C>A)
c.5768-11C>A (n.5768-11C>A)
c.5885-11C>A (n.5885-11C>A)
c.5771-11C>A (n.5771-11C>A)
c.5834-11C>A (n.5834-11C>A)
c.5882-11C>A (n.5882-11C>A)
c.5864-11C>A (n.5864-11C>A)
c.5792-11C>A (n.5792-11C>A)
c.5819-11C>A (n.5819-11C>A)
c.5822-11C>A (n.5822-11C>A)
c.5861-11C>A (n.5861-11C>A)
c.5831-11C>A (n.5831-11C>A)
n.2653-11C>A
c.5726-11C>A (n.5726-11C>A)
c.5789-11C>A (n.5789-11C>A)
c.5729-11C>A (n.5729-11C>A)
c.5927-11C>A (n.5927-11C>A)
c.5924-11C>A (n.5924-11C>A)
 gnomAD v4
2g.71679046C>GCA2659556032DYSFc.3299-11C>G (n.3299-11C>G)
c.2516-11C>G (n.2516-11C>G)
c.2624-11C>G (n.2624-11C>G)
c.5768-11C>G (n.5768-11C>G)
c.5885-11C>G (n.5885-11C>G)
c.5771-11C>G (n.5771-11C>G)
c.5834-11C>G (n.5834-11C>G)
c.5882-11C>G (n.5882-11C>G)
c.5864-11C>G (n.5864-11C>G)
c.5792-11C>G (n.5792-11C>G)
c.5819-11C>G (n.5819-11C>G)
c.5822-11C>G (n.5822-11C>G)
c.5861-11C>G (n.5861-11C>G)
c.5831-11C>G (n.5831-11C>G)
n.2653-11C>G
c.5726-11C>G (n.5726-11C>G)
c.5789-11C>G (n.5789-11C>G)
c.5729-11C>G (n.5729-11C>G)
c.5927-11C>G (n.5927-11C>G)
c.5924-11C>G (n.5924-11C>G)
 gnomAD v4
2g.71679048C>TCA2659556033DYSFc.3299-9C>T (n.3299-9C>T)
c.2516-9C>T (n.2516-9C>T)
c.2624-9C>T (n.2624-9C>T)
c.5768-9C>T (n.5768-9C>T)
c.5885-9C>T (n.5885-9C>T)
c.5771-9C>T (n.5771-9C>T)
c.5834-9C>T (n.5834-9C>T)
c.5882-9C>T (n.5882-9C>T)
c.5864-9C>T (n.5864-9C>T)
c.5792-9C>T (n.5792-9C>T)
c.5819-9C>T (n.5819-9C>T)
c.5822-9C>T (n.5822-9C>T)
c.5861-9C>T (n.5861-9C>T)
c.5831-9C>T (n.5831-9C>T)
n.2653-9C>T
c.5726-9C>T (n.5726-9C>T)
c.5789-9C>T (n.5789-9C>T)
c.5729-9C>T (n.5729-9C>T)
c.5927-9C>T (n.5927-9C>T)
c.5924-9C>T (n.5924-9C>T)
 gnomAD v4
2g.71679049T>CCA2573135975DYSFc.3299-8T>C (n.3299-8T>C)
c.2516-8T>C (n.2516-8T>C)
c.2624-8T>C (n.2624-8T>C)
c.5768-8T>C (n.5768-8T>C)
c.5885-8T>C (n.5885-8T>C)
c.5771-8T>C (n.5771-8T>C)
c.5834-8T>C (n.5834-8T>C)
c.5882-8T>C (n.5882-8T>C)
c.5864-8T>C (n.5864-8T>C)
c.5792-8T>C (n.5792-8T>C)
c.5819-8T>C (n.5819-8T>C)
c.5822-8T>C (n.5822-8T>C)
c.5861-8T>C (n.5861-8T>C)
c.5831-8T>C (n.5831-8T>C)
n.2653-8T>C
c.5726-8T>C (n.5726-8T>C)
c.5789-8T>C (n.5789-8T>C)
c.5729-8T>C (n.5729-8T>C)
c.5927-8T>C (n.5927-8T>C)
c.5924-8T>C (n.5924-8T>C)
 ClinVar dbSNP
2g.71679050G>ACA2580067933DYSFc.3299-7G>A (n.3299-7G>A)
c.2516-7G>A (n.2516-7G>A)
c.2624-7G>A (n.2624-7G>A)
c.5768-7G>A (n.5768-7G>A)
c.5885-7G>A (n.5885-7G>A)
c.5771-7G>A (n.5771-7G>A)
c.5834-7G>A (n.5834-7G>A)
c.5882-7G>A (n.5882-7G>A)
c.5864-7G>A (n.5864-7G>A)
c.5792-7G>A (n.5792-7G>A)
c.5819-7G>A (n.5819-7G>A)
c.5822-7G>A (n.5822-7G>A)
c.5861-7G>A (n.5861-7G>A)
c.5831-7G>A (n.5831-7G>A)
n.2653-7G>A
c.5726-7G>A (n.5726-7G>A)
c.5789-7G>A (n.5789-7G>A)
c.5729-7G>A (n.5729-7G>A)
c.5927-7G>A (n.5927-7G>A)
c.5924-7G>A (n.5924-7G>A)
 ClinVar
2g.71679050_71679051insCAAAAACCA2659556034DYSFc.3299-7_3299-6insCAAAAAC (n.3299-7_3299-6insCAAAAAC)
c.2516-7_2516-6insCAAAAAC (n.2516-7_2516-6insCAAAAAC)
c.2624-7_2624-6insCAAAAAC (n.2624-7_2624-6insCAAAAAC)
c.5768-7_5768-6insCAAAAAC (n.5768-7_5768-6insCAAAAAC)
c.5885-7_5885-6insCAAAAAC (n.5885-7_5885-6insCAAAAAC)
c.5771-7_5771-6insCAAAAAC (n.5771-7_5771-6insCAAAAAC)
c.5834-7_5834-6insCAAAAAC (n.5834-7_5834-6insCAAAAAC)
c.5882-7_5882-6insCAAAAAC (n.5882-7_5882-6insCAAAAAC)
c.5864-7_5864-6insCAAAAAC (n.5864-7_5864-6insCAAAAAC)
c.5792-7_5792-6insCAAAAAC (n.5792-7_5792-6insCAAAAAC)
c.5819-7_5819-6insCAAAAAC (n.5819-7_5819-6insCAAAAAC)
c.5822-7_5822-6insCAAAAAC (n.5822-7_5822-6insCAAAAAC)
c.5861-7_5861-6insCAAAAAC (n.5861-7_5861-6insCAAAAAC)
c.5831-7_5831-6insCAAAAAC (n.5831-7_5831-6insCAAAAAC)
n.2653-7_2653-6insCAAAAAC
c.5726-7_5726-6insCAAAAAC (n.5726-7_5726-6insCAAAAAC)
c.5789-7_5789-6insCAAAAAC (n.5789-7_5789-6insCAAAAAC)
c.5729-7_5729-6insCAAAAAC (n.5729-7_5729-6insCAAAAAC)
c.5927-7_5927-6insCAAAAAC (n.5927-7_5927-6insCAAAAAC)
c.5924-7_5924-6insCAAAAAC (n.5924-7_5924-6insCAAAAAC)
 gnomAD v4
2g.71679051T>ACA2659556035DYSFc.3299-6T>A (n.3299-6T>A)
c.2516-6T>A (n.2516-6T>A)
c.2624-6T>A (n.2624-6T>A)
c.5768-6T>A (n.5768-6T>A)
c.5885-6T>A (n.5885-6T>A)
c.5771-6T>A (n.5771-6T>A)
c.5834-6T>A (n.5834-6T>A)
c.5882-6T>A (n.5882-6T>A)
c.5864-6T>A (n.5864-6T>A)
c.5792-6T>A (n.5792-6T>A)
c.5819-6T>A (n.5819-6T>A)
c.5822-6T>A (n.5822-6T>A)
c.5861-6T>A (n.5861-6T>A)
c.5831-6T>A (n.5831-6T>A)
n.2653-6T>A
c.5726-6T>A (n.5726-6T>A)
c.5789-6T>A (n.5789-6T>A)
c.5729-6T>A (n.5729-6T>A)
c.5927-6T>A (n.5927-6T>A)
c.5924-6T>A (n.5924-6T>A)
 gnomAD v4
2g.71679051T>CCA892684979DYSFc.3299-6T>C (n.3299-6T>C)
c.2516-6T>C (n.2516-6T>C)
c.2624-6T>C (n.2624-6T>C)
c.5768-6T>C (n.5768-6T>C)
c.5885-6T>C (n.5885-6T>C)
c.5771-6T>C (n.5771-6T>C)
c.5834-6T>C (n.5834-6T>C)
c.5882-6T>C (n.5882-6T>C)
c.5864-6T>C (n.5864-6T>C)
c.5792-6T>C (n.5792-6T>C)
c.5819-6T>C (n.5819-6T>C)
c.5822-6T>C (n.5822-6T>C)
c.5861-6T>C (n.5861-6T>C)
c.5831-6T>C (n.5831-6T>C)
n.2653-6T>C
c.5726-6T>C (n.5726-6T>C)
c.5789-6T>C (n.5789-6T>C)
c.5729-6T>C (n.5729-6T>C)
c.5927-6T>C (n.5927-6T>C)
c.5924-6T>C (n.5924-6T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.71679051T=CA1260156817DYSFc.3299-6T= (n.3299-6T=)
c.2516-6T= (n.2516-6T=)
c.2624-6T= (n.2624-6T=)
c.5768-6T= (n.5768-6T=)
c.5885-6T= (n.5885-6T=)
c.5771-6T= (n.5771-6T=)
c.5834-6T= (n.5834-6T=)
c.5882-6T= (n.5882-6T=)
c.5864-6T= (n.5864-6T=)
c.5792-6T= (n.5792-6T=)
c.5819-6T= (n.5819-6T=)
c.5822-6T= (n.5822-6T=)
c.5861-6T= (n.5861-6T=)
c.5831-6T= (n.5831-6T=)
n.2653-6T=
c.5726-6T= (n.5726-6T=)
c.5789-6T= (n.5789-6T=)
c.5729-6T= (n.5729-6T=)
c.5927-6T= (n.5927-6T=)
c.5924-6T= (n.5924-6T=)
2g.71679053G=CA1260156818DYSFc.3299-4G= (n.3299-4G=)
c.2516-4G= (n.2516-4G=)
c.2624-4G= (n.2624-4G=)
c.5768-4G= (n.5768-4G=)
c.5885-4G= (n.5885-4G=)
c.5771-4G= (n.5771-4G=)
c.5834-4G= (n.5834-4G=)
c.5882-4G= (n.5882-4G=)
c.5864-4G= (n.5864-4G=)
c.5792-4G= (n.5792-4G=)
c.5819-4G= (n.5819-4G=)
c.5822-4G= (n.5822-4G=)
c.5861-4G= (n.5861-4G=)
c.5831-4G= (n.5831-4G=)
n.2653-4G=
c.5726-4G= (n.5726-4G=)
c.5789-4G= (n.5789-4G=)
c.5729-4G= (n.5729-4G=)
c.5927-4G= (n.5927-4G=)
c.5924-4G= (n.5924-4G=)
2g.71679053G>TCA1707540DYSFc.3299-4G>T (n.3299-4G>T)
c.2516-4G>T (n.2516-4G>T)
c.2624-4G>T (n.2624-4G>T)
c.5768-4G>T (n.5768-4G>T)
c.5885-4G>T (n.5885-4G>T)
c.5771-4G>T (n.5771-4G>T)
c.5834-4G>T (n.5834-4G>T)
c.5882-4G>T (n.5882-4G>T)
c.5864-4G>T (n.5864-4G>T)
c.5792-4G>T (n.5792-4G>T)
c.5819-4G>T (n.5819-4G>T)
c.5822-4G>T (n.5822-4G>T)
c.5861-4G>T (n.5861-4G>T)
c.5831-4G>T (n.5831-4G>T)
n.2653-4G>T
c.5726-4G>T (n.5726-4G>T)
c.5789-4G>T (n.5789-4G>T)
c.5729-4G>T (n.5729-4G>T)
c.5927-4G>T (n.5927-4G>T)
c.5924-4G>T (n.5924-4G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71679054C=CA1260156819DYSFc.3299-3C= (n.3299-3C=)
c.2516-3C= (n.2516-3C=)
c.2624-3C= (n.2624-3C=)
c.5768-3C= (n.5768-3C=)
c.5885-3C= (n.5885-3C=)
c.5771-3C= (n.5771-3C=)
c.5834-3C= (n.5834-3C=)
c.5882-3C= (n.5882-3C=)
c.5864-3C= (n.5864-3C=)
c.5792-3C= (n.5792-3C=)
c.5819-3C= (n.5819-3C=)
c.5822-3C= (n.5822-3C=)
c.5861-3C= (n.5861-3C=)
c.5831-3C= (n.5831-3C=)
n.2653-3C=
c.5726-3C= (n.5726-3C=)
c.5789-3C= (n.5789-3C=)
c.5729-3C= (n.5729-3C=)
c.5927-3C= (n.5927-3C=)
c.5924-3C= (n.5924-3C=)
2g.71679054C>TCA892684982DYSFc.3299-3C>T (n.3299-3C>T)
c.2516-3C>T (n.2516-3C>T)
c.2624-3C>T (n.2624-3C>T)
c.5768-3C>T (n.5768-3C>T)
c.5885-3C>T (n.5885-3C>T)
c.5771-3C>T (n.5771-3C>T)
c.5834-3C>T (n.5834-3C>T)
c.5882-3C>T (n.5882-3C>T)
c.5864-3C>T (n.5864-3C>T)
c.5792-3C>T (n.5792-3C>T)
c.5819-3C>T (n.5819-3C>T)
c.5822-3C>T (n.5822-3C>T)
c.5861-3C>T (n.5861-3C>T)
c.5831-3C>T (n.5831-3C>T)
n.2653-3C>T
c.5726-3C>T (n.5726-3C>T)
c.5789-3C>T (n.5789-3C>T)
c.5729-3C>T (n.5729-3C>T)
c.5927-3C>T (n.5927-3C>T)
c.5924-3C>T (n.5924-3C>T)
 dbSNP
2g.71679054_71679055insCAAAAACCCA2659556036DYSFc.3299-3_3299-2insCAAAAACC (n.3299-3_3299-2insCAAAAACC)
c.2516-3_2516-2insCAAAAACC (n.2516-3_2516-2insCAAAAACC)
c.2624-3_2624-2insCAAAAACC (n.2624-3_2624-2insCAAAAACC)
c.5768-3_5768-2insCAAAAACC (n.5768-3_5768-2insCAAAAACC)
c.5885-3_5885-2insCAAAAACC (n.5885-3_5885-2insCAAAAACC)
c.5771-3_5771-2insCAAAAACC (n.5771-3_5771-2insCAAAAACC)
c.5834-3_5834-2insCAAAAACC (n.5834-3_5834-2insCAAAAACC)
c.5882-3_5882-2insCAAAAACC (n.5882-3_5882-2insCAAAAACC)
c.5864-3_5864-2insCAAAAACC (n.5864-3_5864-2insCAAAAACC)
c.5792-3_5792-2insCAAAAACC (n.5792-3_5792-2insCAAAAACC)
c.5819-3_5819-2insCAAAAACC (n.5819-3_5819-2insCAAAAACC)
c.5822-3_5822-2insCAAAAACC (n.5822-3_5822-2insCAAAAACC)
c.5861-3_5861-2insCAAAAACC (n.5861-3_5861-2insCAAAAACC)
c.5831-3_5831-2insCAAAAACC (n.5831-3_5831-2insCAAAAACC)
n.2653-3_2653-2insCAAAAACC
c.5726-3_5726-2insCAAAAACC (n.5726-3_5726-2insCAAAAACC)
c.5789-3_5789-2insCAAAAACC (n.5789-3_5789-2insCAAAAACC)
c.5729-3_5729-2insCAAAAACC (n.5729-3_5729-2insCAAAAACC)
c.5927-3_5927-2insCAAAAACC (n.5927-3_5927-2insCAAAAACC)
c.5924-3_5924-2insCAAAAACC (n.5924-3_5924-2insCAAAAACC)
 gnomAD v4
2g.71679055A>CCA347226207DYSFc.3299-2A>C (n.3299-2A>C)
c.2516-2A>C (n.2516-2A>C)
c.2624-2A>C (n.2624-2A>C)
c.5768-2A>C (n.5768-2A>C)
c.5885-2A>C (n.5885-2A>C)
c.5771-2A>C (n.5771-2A>C)
c.5834-2A>C (n.5834-2A>C)
c.5882-2A>C (n.5882-2A>C)
c.5864-2A>C (n.5864-2A>C)
c.5792-2A>C (n.5792-2A>C)
c.5819-2A>C (n.5819-2A>C)
c.5822-2A>C (n.5822-2A>C)
c.5861-2A>C (n.5861-2A>C)
c.5831-2A>C (n.5831-2A>C)
n.2653-2A>C
c.5726-2A>C (n.5726-2A>C)
c.5789-2A>C (n.5789-2A>C)
c.5729-2A>C (n.5729-2A>C)
c.5927-2A>C (n.5927-2A>C)
c.5924-2A>C (n.5924-2A>C)
2g.71679055A>GCA347226208DYSFc.3299-2A>G (n.3299-2A>G)
c.2516-2A>G (n.2516-2A>G)
c.2624-2A>G (n.2624-2A>G)
c.5768-2A>G (n.5768-2A>G)
c.5885-2A>G (n.5885-2A>G)
c.5771-2A>G (n.5771-2A>G)
c.5834-2A>G (n.5834-2A>G)
c.5882-2A>G (n.5882-2A>G)
c.5864-2A>G (n.5864-2A>G)
c.5792-2A>G (n.5792-2A>G)
c.5819-2A>G (n.5819-2A>G)
c.5822-2A>G (n.5822-2A>G)
c.5861-2A>G (n.5861-2A>G)
c.5831-2A>G (n.5831-2A>G)
n.2653-2A>G
c.5726-2A>G (n.5726-2A>G)
c.5789-2A>G (n.5789-2A>G)
c.5729-2A>G (n.5729-2A>G)
c.5927-2A>G (n.5927-2A>G)
c.5924-2A>G (n.5924-2A>G)
2g.71679055A>TCA347226209DYSFc.3299-2A>T (n.3299-2A>T)
c.2516-2A>T (n.2516-2A>T)
c.2624-2A>T (n.2624-2A>T)
c.5768-2A>T (n.5768-2A>T)
c.5885-2A>T (n.5885-2A>T)
c.5771-2A>T (n.5771-2A>T)
c.5834-2A>T (n.5834-2A>T)
c.5882-2A>T (n.5882-2A>T)
c.5864-2A>T (n.5864-2A>T)
c.5792-2A>T (n.5792-2A>T)
c.5819-2A>T (n.5819-2A>T)
c.5822-2A>T (n.5822-2A>T)
c.5861-2A>T (n.5861-2A>T)
c.5831-2A>T (n.5831-2A>T)
n.2653-2A>T
c.5726-2A>T (n.5726-2A>T)
c.5789-2A>T (n.5789-2A>T)
c.5729-2A>T (n.5729-2A>T)
c.5927-2A>T (n.5927-2A>T)
c.5924-2A>T (n.5924-2A>T)
2g.71679056G>ACA347226210DYSFc.3299-1G>A (n.3299-1G>A)
c.2516-1G>A (n.2516-1G>A)
c.2624-1G>A (n.2624-1G>A)
c.5768-1G>A (n.5768-1G>A)
c.5885-1G>A (n.5885-1G>A)
c.5771-1G>A (n.5771-1G>A)
c.5834-1G>A (n.5834-1G>A)
c.5882-1G>A (n.5882-1G>A)
c.5864-1G>A (n.5864-1G>A)
c.5792-1G>A (n.5792-1G>A)
c.5819-1G>A (n.5819-1G>A)
c.5822-1G>A (n.5822-1G>A)
c.5861-1G>A (n.5861-1G>A)
c.5831-1G>A (n.5831-1G>A)
n.2653-1G>A
c.5726-1G>A (n.5726-1G>A)
c.5789-1G>A (n.5789-1G>A)
c.5729-1G>A (n.5729-1G>A)
c.5927-1G>A (n.5927-1G>A)
c.5924-1G>A (n.5924-1G>A)
 ClinVar
2g.71679056G>CCA1707541DYSFc.3299-1G>C (n.3299-1G>C)
c.2516-1G>C (n.2516-1G>C)
c.2624-1G>C (n.2624-1G>C)
c.5768-1G>C (n.5768-1G>C)
c.5885-1G>C (n.5885-1G>C)
c.5771-1G>C (n.5771-1G>C)
c.5834-1G>C (n.5834-1G>C)
c.5882-1G>C (n.5882-1G>C)
c.5864-1G>C (n.5864-1G>C)
c.5792-1G>C (n.5792-1G>C)
c.5819-1G>C (n.5819-1G>C)
c.5822-1G>C (n.5822-1G>C)
c.5861-1G>C (n.5861-1G>C)
c.5831-1G>C (n.5831-1G>C)
n.2653-1G>C
c.5726-1G>C (n.5726-1G>C)
c.5789-1G>C (n.5789-1G>C)
c.5729-1G>C (n.5729-1G>C)
c.5927-1G>C (n.5927-1G>C)
c.5924-1G>C (n.5924-1G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71679056G=CA1260156820DYSFc.3299-1G= (n.3299-1G=)
c.2516-1G= (n.2516-1G=)
c.2624-1G= (n.2624-1G=)
c.5768-1G= (n.5768-1G=)
c.5885-1G= (n.5885-1G=)
c.5771-1G= (n.5771-1G=)
c.5834-1G= (n.5834-1G=)
c.5882-1G= (n.5882-1G=)
c.5864-1G= (n.5864-1G=)
c.5792-1G= (n.5792-1G=)
c.5819-1G= (n.5819-1G=)
c.5822-1G= (n.5822-1G=)
c.5861-1G= (n.5861-1G=)
c.5831-1G= (n.5831-1G=)
n.2653-1G=
c.5726-1G= (n.5726-1G=)
c.5789-1G= (n.5789-1G=)
c.5729-1G= (n.5729-1G=)
c.5927-1G= (n.5927-1G=)
c.5924-1G= (n.5924-1G=)
2g.71679056G>TCA347226211DYSFc.3299-1G>T (n.3299-1G>T)
c.2516-1G>T (n.2516-1G>T)
c.2624-1G>T (n.2624-1G>T)
c.5768-1G>T (n.5768-1G>T)
c.5885-1G>T (n.5885-1G>T)
c.5771-1G>T (n.5771-1G>T)
c.5834-1G>T (n.5834-1G>T)
c.5882-1G>T (n.5882-1G>T)
c.5864-1G>T (n.5864-1G>T)
c.5792-1G>T (n.5792-1G>T)
c.5819-1G>T (n.5819-1G>T)
c.5822-1G>T (n.5822-1G>T)
c.5861-1G>T (n.5861-1G>T)
c.5831-1G>T (n.5831-1G>T)
n.2653-1G>T
c.5726-1G>T (n.5726-1G>T)
c.5789-1G>T (n.5789-1G>T)
c.5729-1G>T (n.5729-1G>T)
c.5927-1G>T (n.5927-1G>T)
c.5924-1G>T (n.5924-1G>T)
2g.71679057G>ACA347226212DYSFc.3299G>A (p.Gly1100Asp)
c.2516G>A (p.Gly839Asp)
c.2624G>A (p.Gly875Asp)
c.5768G>A (p.Gly1923Asp)
c.5885G>A (p.Gly1962Asp)
c.5771G>A (p.Gly1924Asp)
c.5834G>A (p.Gly1945Asp)
c.5882G>A (p.Gly1961Asp)
c.5864G>A (p.Gly1955Asp)
c.5792G>A (p.Gly1931Asp)
c.5819G>A (p.Gly1940Asp)
c.5822G>A (p.Gly1941Asp)
c.5861G>A (p.Gly1954Asp)
c.5831G>A (p.Gly1944Asp)
n.2653G>A
c.5726G>A (p.Gly1909Asp)
c.5789G>A (p.Gly1930Asp)
c.5729G>A (p.Gly1910Asp)
c.5927G>A (p.Gly1976Asp)
c.5924G>A (p.Gly1975Asp)
2g.71679057G>CCA347226214DYSFc.3299G>C (p.Gly1100Ala)
c.2516G>C (p.Gly839Ala)
c.2624G>C (p.Gly875Ala)
c.5768G>C (p.Gly1923Ala)
c.5885G>C (p.Gly1962Ala)
c.5771G>C (p.Gly1924Ala)
c.5834G>C (p.Gly1945Ala)
c.5882G>C (p.Gly1961Ala)
c.5864G>C (p.Gly1955Ala)
c.5792G>C (p.Gly1931Ala)
c.5819G>C (p.Gly1940Ala)
c.5822G>C (p.Gly1941Ala)
c.5861G>C (p.Gly1954Ala)
c.5831G>C (p.Gly1944Ala)
n.2653G>C
c.5726G>C (p.Gly1909Ala)
c.5789G>C (p.Gly1930Ala)
c.5729G>C (p.Gly1910Ala)
c.5927G>C (p.Gly1976Ala)
c.5924G>C (p.Gly1975Ala)
2g.71679057G>TCA347226213DYSFc.3299G>T (p.Gly1100Val)
c.2516G>T (p.Gly839Val)
c.2624G>T (p.Gly875Val)
c.5768G>T (p.Gly1923Val)
c.5885G>T (p.Gly1962Val)
c.5771G>T (p.Gly1924Val)
c.5834G>T (p.Gly1945Val)
c.5882G>T (p.Gly1961Val)
c.5864G>T (p.Gly1955Val)
c.5792G>T (p.Gly1931Val)
c.5819G>T (p.Gly1940Val)
c.5822G>T (p.Gly1941Val)
c.5861G>T (p.Gly1954Val)
c.5831G>T (p.Gly1944Val)
n.2653G>T
c.5726G>T (p.Gly1909Val)
c.5789G>T (p.Gly1930Val)
c.5729G>T (p.Gly1910Val)
c.5927G>T (p.Gly1976Val)
c.5924G>T (p.Gly1975Val)
2g.71679058C>ACA426704652DYSFc.3300C>A (p.Gly1100=)
c.2517C>A (p.Gly839=)
c.2625C>A (p.Gly875=)
c.5769C>A (p.Gly1923=)
c.5886C>A (p.Gly1962=)
c.5772C>A (p.Gly1924=)
c.5835C>A (p.Gly1945=)
c.5883C>A (p.Gly1961=)
c.5865C>A (p.Gly1955=)
c.5793C>A (p.Gly1931=)
c.5820C>A (p.Gly1940=)
c.5823C>A (p.Gly1941=)
c.5862C>A (p.Gly1954=)
c.5832C>A (p.Gly1944=)
n.2654C>A
c.5727C>A (p.Gly1909=)
c.5790C>A (p.Gly1930=)
c.5730C>A (p.Gly1910=)
c.5928C>A (p.Gly1976=)
c.5925C>A (p.Gly1975=)
 dbSNP
2g.71679058C=CA1260156821DYSFc.3300C= (p.Gly1100=)
c.2517C= (p.Gly839=)
c.2625C= (p.Gly875=)
c.5769C= (p.Gly1923=)
c.5886C= (p.Gly1962=)
c.5772C= (p.Gly1924=)
c.5835C= (p.Gly1945=)
c.5883C= (p.Gly1961=)
c.5865C= (p.Gly1955=)
c.5793C= (p.Gly1931=)
c.5820C= (p.Gly1940=)
c.5823C= (p.Gly1941=)
c.5862C= (p.Gly1954=)
c.5832C= (p.Gly1944=)
n.2654C=
c.5727C= (p.Gly1909=)
c.5790C= (p.Gly1930=)
c.5730C= (p.Gly1910=)
c.5928C= (p.Gly1976=)
c.5925C= (p.Gly1975=)
2g.71679058C>GCA426704653DYSFc.3300C>G (p.Gly1100=)
c.2517C>G (p.Gly839=)
c.2625C>G (p.Gly875=)
c.5769C>G (p.Gly1923=)
c.5886C>G (p.Gly1962=)
c.5772C>G (p.Gly1924=)
c.5835C>G (p.Gly1945=)
c.5883C>G (p.Gly1961=)
c.5865C>G (p.Gly1955=)
c.5793C>G (p.Gly1931=)
c.5820C>G (p.Gly1940=)
c.5823C>G (p.Gly1941=)
c.5862C>G (p.Gly1954=)
c.5832C>G (p.Gly1944=)
n.2654C>G
c.5727C>G (p.Gly1909=)
c.5790C>G (p.Gly1930=)
c.5730C>G (p.Gly1910=)
c.5928C>G (p.Gly1976=)
c.5925C>G (p.Gly1975=)
2g.71679058C>TCA426704654DYSFc.3300C>T (p.Gly1100=)
c.2517C>T (p.Gly839=)
c.2625C>T (p.Gly875=)
c.5769C>T (p.Gly1923=)
c.5886C>T (p.Gly1962=)
c.5772C>T (p.Gly1924=)
c.5835C>T (p.Gly1945=)
c.5883C>T (p.Gly1961=)
c.5865C>T (p.Gly1955=)
c.5793C>T (p.Gly1931=)
c.5820C>T (p.Gly1940=)
c.5823C>T (p.Gly1941=)
c.5862C>T (p.Gly1954=)
c.5832C>T (p.Gly1944=)
n.2654C>T
c.5727C>T (p.Gly1909=)
c.5790C>T (p.Gly1930=)
c.5730C>T (p.Gly1910=)
c.5928C>T (p.Gly1976=)
c.5925C>T (p.Gly1975=)
 gnomAD v4
2g.71679059T>ACA347226215DYSFc.3301T>A (p.Ser1101Thr)
c.2518T>A (p.Ser840Thr)
c.2626T>A (p.Ser876Thr)
c.5770T>A (p.Ser1924Thr)
c.5887T>A (p.Ser1963Thr)
c.5773T>A (p.Ser1925Thr)
c.5836T>A (p.Ser1946Thr)
c.5884T>A (p.Ser1962Thr)
c.5866T>A (p.Ser1956Thr)
c.5794T>A (p.Ser1932Thr)
c.5821T>A (p.Ser1941Thr)
c.5824T>A (p.Ser1942Thr)
c.5863T>A (p.Ser1955Thr)
c.5833T>A (p.Ser1945Thr)
n.2655T>A
c.5728T>A (p.Ser1910Thr)
c.5791T>A (p.Ser1931Thr)
c.5731T>A (p.Ser1911Thr)
c.5929T>A (p.Ser1977Thr)
c.5926T>A (p.Ser1976Thr)
2g.71679059T>CCA347226216DYSFc.3301T>C (p.Ser1101Pro)
c.2518T>C (p.Ser840Pro)
c.2626T>C (p.Ser876Pro)
c.5770T>C (p.Ser1924Pro)
c.5887T>C (p.Ser1963Pro)
c.5773T>C (p.Ser1925Pro)
c.5836T>C (p.Ser1946Pro)
c.5884T>C (p.Ser1962Pro)
c.5866T>C (p.Ser1956Pro)
c.5794T>C (p.Ser1932Pro)
c.5821T>C (p.Ser1941Pro)
c.5824T>C (p.Ser1942Pro)
c.5863T>C (p.Ser1955Pro)
c.5833T>C (p.Ser1945Pro)
n.2655T>C
c.5728T>C (p.Ser1910Pro)
c.5791T>C (p.Ser1931Pro)
c.5731T>C (p.Ser1911Pro)
c.5929T>C (p.Ser1977Pro)
c.5926T>C (p.Ser1976Pro)
 ClinVar dbSNP
2g.71679059T>GCA347226217DYSFc.3301T>G (p.Ser1101Ala)
c.2518T>G (p.Ser840Ala)
c.2626T>G (p.Ser876Ala)
c.5770T>G (p.Ser1924Ala)
c.5887T>G (p.Ser1963Ala)
c.5773T>G (p.Ser1925Ala)
c.5836T>G (p.Ser1946Ala)
c.5884T>G (p.Ser1962Ala)
c.5866T>G (p.Ser1956Ala)
c.5794T>G (p.Ser1932Ala)
c.5821T>G (p.Ser1941Ala)
c.5824T>G (p.Ser1942Ala)
c.5863T>G (p.Ser1955Ala)
c.5833T>G (p.Ser1945Ala)
n.2655T>G
c.5728T>G (p.Ser1910Ala)
c.5791T>G (p.Ser1931Ala)
c.5731T>G (p.Ser1911Ala)
c.5929T>G (p.Ser1977Ala)
c.5926T>G (p.Ser1976Ala)
2g.71679060C>ACA347226218DYSFc.3302C>A (p.Ser1101Tyr)
c.2519C>A (p.Ser840Tyr)
c.2627C>A (p.Ser876Tyr)
c.5771C>A (p.Ser1924Tyr)
c.5888C>A (p.Ser1963Tyr)
c.5774C>A (p.Ser1925Tyr)
c.5837C>A (p.Ser1946Tyr)
c.5885C>A (p.Ser1962Tyr)
c.5867C>A (p.Ser1956Tyr)
c.5795C>A (p.Ser1932Tyr)
c.5822C>A (p.Ser1941Tyr)
c.5825C>A (p.Ser1942Tyr)
c.5864C>A (p.Ser1955Tyr)
c.5834C>A (p.Ser1945Tyr)
n.2656C>A
c.5729C>A (p.Ser1910Tyr)
c.5792C>A (p.Ser1931Tyr)
c.5732C>A (p.Ser1911Tyr)
c.5930C>A (p.Ser1977Tyr)
c.5927C>A (p.Ser1976Tyr)
2g.71679060C=CA1260156822DYSFc.3302C= (p.Ser1101=)
c.2519C= (p.Ser840=)
c.2627C= (p.Ser876=)
c.5771C= (p.Ser1924=)
c.5888C= (p.Ser1963=)
c.5774C= (p.Ser1925=)
c.5837C= (p.Ser1946=)
c.5885C= (p.Ser1962=)
c.5867C= (p.Ser1956=)
c.5795C= (p.Ser1932=)
c.5822C= (p.Ser1941=)
c.5825C= (p.Ser1942=)
c.5864C= (p.Ser1955=)
c.5834C= (p.Ser1945=)
n.2656C=
c.5729C= (p.Ser1910=)
c.5792C= (p.Ser1931=)
c.5732C= (p.Ser1911=)
c.5930C= (p.Ser1977=)
c.5927C= (p.Ser1976=)
2g.71679060C>GCA347226219DYSFc.3302C>G (p.Ser1101Cys)
c.2519C>G (p.Ser840Cys)
c.2627C>G (p.Ser876Cys)
c.5771C>G (p.Ser1924Cys)
c.5888C>G (p.Ser1963Cys)
c.5774C>G (p.Ser1925Cys)
c.5837C>G (p.Ser1946Cys)
c.5885C>G (p.Ser1962Cys)
c.5867C>G (p.Ser1956Cys)
c.5795C>G (p.Ser1932Cys)
c.5822C>G (p.Ser1941Cys)
c.5825C>G (p.Ser1942Cys)
c.5864C>G (p.Ser1955Cys)
c.5834C>G (p.Ser1945Cys)
n.2656C>G
c.5729C>G (p.Ser1910Cys)
c.5792C>G (p.Ser1931Cys)
c.5732C>G (p.Ser1911Cys)
c.5930C>G (p.Ser1977Cys)
c.5927C>G (p.Ser1976Cys)
2g.71679060C>TCA1707542DYSFc.3302C>T (p.Ser1101Phe)
c.2519C>T (p.Ser840Phe)
c.2627C>T (p.Ser876Phe)
c.5771C>T (p.Ser1924Phe)
c.5888C>T (p.Ser1963Phe)
c.5774C>T (p.Ser1925Phe)
c.5837C>T (p.Ser1946Phe)
c.5885C>T (p.Ser1962Phe)
c.5867C>T (p.Ser1956Phe)
c.5795C>T (p.Ser1932Phe)
c.5822C>T (p.Ser1941Phe)
c.5825C>T (p.Ser1942Phe)
c.5864C>T (p.Ser1955Phe)
c.5834C>T (p.Ser1945Phe)
n.2656C>T
c.5729C>T (p.Ser1910Phe)
c.5792C>T (p.Ser1931Phe)
c.5732C>T (p.Ser1911Phe)
c.5930C>T (p.Ser1977Phe)
c.5927C>T (p.Ser1976Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71679061C>ACA426704657DYSFc.3303C>A (p.Ser1101=)
c.2520C>A (p.Ser840=)
c.2628C>A (p.Ser876=)
c.5772C>A (p.Ser1924=)
c.5889C>A (p.Ser1963=)
c.5775C>A (p.Ser1925=)
c.5838C>A (p.Ser1946=)
c.5886C>A (p.Ser1962=)
c.5868C>A (p.Ser1956=)
c.5796C>A (p.Ser1932=)
c.5823C>A (p.Ser1941=)
c.5826C>A (p.Ser1942=)
c.5865C>A (p.Ser1955=)
c.5835C>A (p.Ser1945=)
n.2657C>A
c.5730C>A (p.Ser1910=)
c.5793C>A (p.Ser1931=)
c.5733C>A (p.Ser1911=)
c.5931C>A (p.Ser1977=)
c.5928C>A (p.Ser1976=)
2g.71679061C>GCA426704658DYSFc.3303C>G (p.Ser1101=)
c.2520C>G (p.Ser840=)
c.2628C>G (p.Ser876=)
c.5772C>G (p.Ser1924=)
c.5889C>G (p.Ser1963=)
c.5775C>G (p.Ser1925=)
c.5838C>G (p.Ser1946=)
c.5886C>G (p.Ser1962=)
c.5868C>G (p.Ser1956=)
c.5796C>G (p.Ser1932=)
c.5823C>G (p.Ser1941=)
c.5826C>G (p.Ser1942=)
c.5865C>G (p.Ser1955=)
c.5835C>G (p.Ser1945=)
n.2657C>G
c.5730C>G (p.Ser1910=)
c.5793C>G (p.Ser1931=)
c.5733C>G (p.Ser1911=)
c.5931C>G (p.Ser1977=)
c.5928C>G (p.Ser1976=)
2g.71679061C>TCA426704659DYSFc.3303C>T (p.Ser1101=)
c.2520C>T (p.Ser840=)
c.2628C>T (p.Ser876=)
c.5772C>T (p.Ser1924=)
c.5889C>T (p.Ser1963=)
c.5775C>T (p.Ser1925=)
c.5838C>T (p.Ser1946=)
c.5886C>T (p.Ser1962=)
c.5868C>T (p.Ser1956=)
c.5796C>T (p.Ser1932=)
c.5823C>T (p.Ser1941=)
c.5826C>T (p.Ser1942=)
c.5865C>T (p.Ser1955=)
c.5835C>T (p.Ser1945=)
n.2657C>T
c.5730C>T (p.Ser1910=)
c.5793C>T (p.Ser1931=)
c.5733C>T (p.Ser1911=)
c.5931C>T (p.Ser1977=)
c.5928C>T (p.Ser1976=)
2g.71679062C>ACA347226220DYSFc.3304C>A (p.Leu1102Met)
c.2521C>A (p.Leu841Met)
c.2629C>A (p.Leu877Met)
c.5773C>A (p.Leu1925Met)
c.5890C>A (p.Leu1964Met)
c.5776C>A (p.Leu1926Met)
c.5839C>A (p.Leu1947Met)
c.5887C>A (p.Leu1963Met)
c.5869C>A (p.Leu1957Met)
c.5797C>A (p.Leu1933Met)
c.5824C>A (p.Leu1942Met)
c.5827C>A (p.Leu1943Met)
c.5866C>A (p.Leu1956Met)
c.5836C>A (p.Leu1946Met)
n.2658C>A
c.5731C>A (p.Leu1911Met)
c.5794C>A (p.Leu1932Met)
c.5734C>A (p.Leu1912Met)
c.5932C>A (p.Leu1978Met)
c.5929C>A (p.Leu1977Met)
 gnomAD v4
2g.71679062C>GCA347226221DYSFc.3304C>G (p.Leu1102Val)
c.2521C>G (p.Leu841Val)
c.2629C>G (p.Leu877Val)
c.5773C>G (p.Leu1925Val)
c.5890C>G (p.Leu1964Val)
c.5776C>G (p.Leu1926Val)
c.5839C>G (p.Leu1947Val)
c.5887C>G (p.Leu1963Val)
c.5869C>G (p.Leu1957Val)
c.5797C>G (p.Leu1933Val)
c.5824C>G (p.Leu1942Val)
c.5827C>G (p.Leu1943Val)
c.5866C>G (p.Leu1956Val)
c.5836C>G (p.Leu1946Val)
n.2658C>G
c.5731C>G (p.Leu1911Val)
c.5794C>G (p.Leu1932Val)
c.5734C>G (p.Leu1912Val)
c.5932C>G (p.Leu1978Val)
c.5929C>G (p.Leu1977Val)
2g.71679062C>TCA426704660DYSFc.3304C>T (p.Leu1102=)
c.2521C>T (p.Leu841=)
c.2629C>T (p.Leu877=)
c.5773C>T (p.Leu1925=)
c.5890C>T (p.Leu1964=)
c.5776C>T (p.Leu1926=)
c.5839C>T (p.Leu1947=)
c.5887C>T (p.Leu1963=)
c.5869C>T (p.Leu1957=)
c.5797C>T (p.Leu1933=)
c.5824C>T (p.Leu1942=)
c.5827C>T (p.Leu1943=)
c.5866C>T (p.Leu1956=)
c.5836C>T (p.Leu1946=)
n.2658C>T
c.5731C>T (p.Leu1911=)
c.5794C>T (p.Leu1932=)
c.5734C>T (p.Leu1912=)
c.5932C>T (p.Leu1978=)
c.5929C>T (p.Leu1977=)
2g.71679063T>ACA347226222DYSFc.3305T>A (p.Leu1102Gln)
c.2522T>A (p.Leu841Gln)
c.2630T>A (p.Leu877Gln)
c.5774T>A (p.Leu1925Gln)
c.5891T>A (p.Leu1964Gln)
c.5777T>A (p.Leu1926Gln)
c.5840T>A (p.Leu1947Gln)
c.5888T>A (p.Leu1963Gln)
c.5870T>A (p.Leu1957Gln)
c.5798T>A (p.Leu1933Gln)
c.5825T>A (p.Leu1942Gln)
c.5828T>A (p.Leu1943Gln)
c.5867T>A (p.Leu1956Gln)
c.5837T>A (p.Leu1946Gln)
n.2659T>A
c.5732T>A (p.Leu1911Gln)
c.5795T>A (p.Leu1932Gln)
c.5735T>A (p.Leu1912Gln)
c.5933T>A (p.Leu1978Gln)
c.5930T>A (p.Leu1977Gln)
2g.71679063T>CCA347226223DYSFc.3305T>C (p.Leu1102Pro)
c.2522T>C (p.Leu841Pro)
c.2630T>C (p.Leu877Pro)
c.5774T>C (p.Leu1925Pro)
c.5891T>C (p.Leu1964Pro)
c.5777T>C (p.Leu1926Pro)
c.5840T>C (p.Leu1947Pro)
c.5888T>C (p.Leu1963Pro)
c.5870T>C (p.Leu1957Pro)
c.5798T>C (p.Leu1933Pro)
c.5825T>C (p.Leu1942Pro)
c.5828T>C (p.Leu1943Pro)
c.5867T>C (p.Leu1956Pro)
c.5837T>C (p.Leu1946Pro)
n.2659T>C
c.5732T>C (p.Leu1911Pro)
c.5795T>C (p.Leu1932Pro)
c.5735T>C (p.Leu1912Pro)
c.5933T>C (p.Leu1978Pro)
c.5930T>C (p.Leu1977Pro)
 gnomAD v4
2g.71679063T>GCA347226224DYSFc.3305T>G (p.Leu1102Arg)
c.2522T>G (p.Leu841Arg)
c.2630T>G (p.Leu877Arg)
c.5774T>G (p.Leu1925Arg)
c.5891T>G (p.Leu1964Arg)
c.5777T>G (p.Leu1926Arg)
c.5840T>G (p.Leu1947Arg)
c.5888T>G (p.Leu1963Arg)
c.5870T>G (p.Leu1957Arg)
c.5798T>G (p.Leu1933Arg)
c.5825T>G (p.Leu1942Arg)
c.5828T>G (p.Leu1943Arg)
c.5867T>G (p.Leu1956Arg)
c.5837T>G (p.Leu1946Arg)
n.2659T>G
c.5732T>G (p.Leu1911Arg)
c.5795T>G (p.Leu1932Arg)
c.5735T>G (p.Leu1912Arg)
c.5933T>G (p.Leu1978Arg)
c.5930T>G (p.Leu1977Arg)
2g.71679064G>ACA426704663DYSFc.3306G>A (p.Leu1102=)
c.2523G>A (p.Leu841=)
c.2631G>A (p.Leu877=)
c.5775G>A (p.Leu1925=)
c.5892G>A (p.Leu1964=)
c.5778G>A (p.Leu1926=)
c.5841G>A (p.Leu1947=)
c.5889G>A (p.Leu1963=)
c.5871G>A (p.Leu1957=)
c.5799G>A (p.Leu1933=)
c.5826G>A (p.Leu1942=)
c.5829G>A (p.Leu1943=)
c.5868G>A (p.Leu1956=)
c.5838G>A (p.Leu1946=)
n.2660G>A
c.5733G>A (p.Leu1911=)
c.5796G>A (p.Leu1932=)
c.5736G>A (p.Leu1912=)
c.5934G>A (p.Leu1978=)
c.5931G>A (p.Leu1977=)
 ClinVar dbSNP gnomAD v4
2g.71679064G>CCA426704662DYSFc.3306G>C (p.Leu1102=)
c.2523G>C (p.Leu841=)
c.2631G>C (p.Leu877=)
c.5775G>C (p.Leu1925=)
c.5892G>C (p.Leu1964=)
c.5778G>C (p.Leu1926=)
c.5841G>C (p.Leu1947=)
c.5889G>C (p.Leu1963=)
c.5871G>C (p.Leu1957=)
c.5799G>C (p.Leu1933=)
c.5826G>C (p.Leu1942=)
c.5829G>C (p.Leu1943=)
c.5868G>C (p.Leu1956=)
c.5838G>C (p.Leu1946=)
n.2660G>C
c.5733G>C (p.Leu1911=)
c.5796G>C (p.Leu1932=)
c.5736G>C (p.Leu1912=)
c.5934G>C (p.Leu1978=)
c.5931G>C (p.Leu1977=)
2g.71679064G=CA1260156823DYSFc.3306G= (p.Leu1102=)
c.2523G= (p.Leu841=)
c.2631G= (p.Leu877=)
c.5775G= (p.Leu1925=)
c.5892G= (p.Leu1964=)
c.5778G= (p.Leu1926=)
c.5841G= (p.Leu1947=)
c.5889G= (p.Leu1963=)
c.5871G= (p.Leu1957=)
c.5799G= (p.Leu1933=)
c.5826G= (p.Leu1942=)
c.5829G= (p.Leu1943=)
c.5868G= (p.Leu1956=)
c.5838G= (p.Leu1946=)
n.2660G=
c.5733G= (p.Leu1911=)
c.5796G= (p.Leu1932=)
c.5736G= (p.Leu1912=)
c.5934G= (p.Leu1978=)
c.5931G= (p.Leu1977=)
2g.71679064G>TCA1707543DYSFc.3306G>T (p.Leu1102=)
c.2523G>T (p.Leu841=)
c.2631G>T (p.Leu877=)
c.5775G>T (p.Leu1925=)
c.5892G>T (p.Leu1964=)
c.5778G>T (p.Leu1926=)
c.5841G>T (p.Leu1947=)
c.5889G>T (p.Leu1963=)
c.5871G>T (p.Leu1957=)
c.5799G>T (p.Leu1933=)
c.5826G>T (p.Leu1942=)
c.5829G>T (p.Leu1943=)
c.5868G>T (p.Leu1956=)
c.5838G>T (p.Leu1946=)
n.2660G>T
c.5733G>T (p.Leu1911=)
c.5796G>T (p.Leu1932=)
c.5736G>T (p.Leu1912=)
c.5934G>T (p.Leu1978=)
c.5931G>T (p.Leu1977=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71679065C>ACA347226226DYSFc.3307C>A (p.Gln1103Lys)
c.2524C>A (p.Gln842Lys)
c.2632C>A (p.Gln878Lys)
c.5776C>A (p.Gln1926Lys)
c.5893C>A (p.Gln1965Lys)
c.5779C>A (p.Gln1927Lys)
c.5842C>A (p.Gln1948Lys)
c.5890C>A (p.Gln1964Lys)
c.5872C>A (p.Gln1958Lys)
c.5800C>A (p.Gln1934Lys)
c.5827C>A (p.Gln1943Lys)
c.5830C>A (p.Gln1944Lys)
c.5869C>A (p.Gln1957Lys)
c.5839C>A (p.Gln1947Lys)
n.2661C>A
c.5734C>A (p.Gln1912Lys)
c.5797C>A (p.Gln1933Lys)
c.5737C>A (p.Gln1913Lys)
c.5935C>A (p.Gln1979Lys)
c.5932C>A (p.Gln1978Lys)
2g.71679065C>GCA347226227DYSFc.3307C>G (p.Gln1103Glu)
c.2524C>G (p.Gln842Glu)
c.2632C>G (p.Gln878Glu)
c.5776C>G (p.Gln1926Glu)
c.5893C>G (p.Gln1965Glu)
c.5779C>G (p.Gln1927Glu)
c.5842C>G (p.Gln1948Glu)
c.5890C>G (p.Gln1964Glu)
c.5872C>G (p.Gln1958Glu)
c.5800C>G (p.Gln1934Glu)
c.5827C>G (p.Gln1943Glu)
c.5830C>G (p.Gln1944Glu)
c.5869C>G (p.Gln1957Glu)
c.5839C>G (p.Gln1947Glu)
n.2661C>G
c.5734C>G (p.Gln1912Glu)
c.5797C>G (p.Gln1933Glu)
c.5737C>G (p.Gln1913Glu)
c.5935C>G (p.Gln1979Glu)
c.5932C>G (p.Gln1978Glu)
2g.71679065C>TCA347226225DYSFc.3307C>T (p.Gln1103Ter)
c.2524C>T (p.Gln842Ter)
c.2632C>T (p.Gln878Ter)
c.5776C>T (p.Gln1926Ter)
c.5893C>T (p.Gln1965Ter)
c.5779C>T (p.Gln1927Ter)
c.5842C>T (p.Gln1948Ter)
c.5890C>T (p.Gln1964Ter)
c.5872C>T (p.Gln1958Ter)
c.5800C>T (p.Gln1934Ter)
c.5827C>T (p.Gln1943Ter)
c.5830C>T (p.Gln1944Ter)
c.5869C>T (p.Gln1957Ter)
c.5839C>T (p.Gln1947Ter)
n.2661C>T
c.5734C>T (p.Gln1912Ter)
c.5797C>T (p.Gln1933Ter)
c.5737C>T (p.Gln1913Ter)
c.5935C>T (p.Gln1979Ter)
c.5932C>T (p.Gln1978Ter)
 ClinVar dbSNP
2g.71679066A>CCA347226228DYSFc.3308A>C (p.Gln1103Pro)
c.2525A>C (p.Gln842Pro)
c.2633A>C (p.Gln878Pro)
c.5777A>C (p.Gln1926Pro)
c.5894A>C (p.Gln1965Pro)
c.5780A>C (p.Gln1927Pro)
c.5843A>C (p.Gln1948Pro)
c.5891A>C (p.Gln1964Pro)
c.5873A>C (p.Gln1958Pro)
c.5801A>C (p.Gln1934Pro)
c.5828A>C (p.Gln1943Pro)
c.5831A>C (p.Gln1944Pro)
c.5870A>C (p.Gln1957Pro)
c.5840A>C (p.Gln1947Pro)
n.2662A>C
c.5735A>C (p.Gln1912Pro)
c.5798A>C (p.Gln1933Pro)
c.5738A>C (p.Gln1913Pro)
c.5936A>C (p.Gln1979Pro)
c.5933A>C (p.Gln1978Pro)
2g.71679066A>GCA347226229DYSFc.3308A>G (p.Gln1103Arg)
c.2525A>G (p.Gln842Arg)
c.2633A>G (p.Gln878Arg)
c.5777A>G (p.Gln1926Arg)
c.5894A>G (p.Gln1965Arg)
c.5780A>G (p.Gln1927Arg)
c.5843A>G (p.Gln1948Arg)
c.5891A>G (p.Gln1964Arg)
c.5873A>G (p.Gln1958Arg)
c.5801A>G (p.Gln1934Arg)
c.5828A>G (p.Gln1943Arg)
c.5831A>G (p.Gln1944Arg)
c.5870A>G (p.Gln1957Arg)
c.5840A>G (p.Gln1947Arg)
n.2662A>G
c.5735A>G (p.Gln1912Arg)
c.5798A>G (p.Gln1933Arg)
c.5738A>G (p.Gln1913Arg)
c.5936A>G (p.Gln1979Arg)
c.5933A>G (p.Gln1978Arg)
2g.71679066A>TCA347226230DYSFc.3308A>T (p.Gln1103Leu)
c.2525A>T (p.Gln842Leu)
c.2633A>T (p.Gln878Leu)
c.5777A>T (p.Gln1926Leu)
c.5894A>T (p.Gln1965Leu)
c.5780A>T (p.Gln1927Leu)
c.5843A>T (p.Gln1948Leu)
c.5891A>T (p.Gln1964Leu)
c.5873A>T (p.Gln1958Leu)
c.5801A>T (p.Gln1934Leu)
c.5828A>T (p.Gln1943Leu)
c.5831A>T (p.Gln1944Leu)
c.5870A>T (p.Gln1957Leu)
c.5840A>T (p.Gln1947Leu)
n.2662A>T
c.5735A>T (p.Gln1912Leu)
c.5798A>T (p.Gln1933Leu)
c.5738A>T (p.Gln1913Leu)
c.5936A>T (p.Gln1979Leu)
c.5933A>T (p.Gln1978Leu)
2g.71679067G>ACA426704664DYSFc.3309G>A (p.Gln1103=)
c.2526G>A (p.Gln842=)
c.2634G>A (p.Gln878=)
c.5778G>A (p.Gln1926=)
c.5895G>A (p.Gln1965=)
c.5781G>A (p.Gln1927=)
c.5844G>A (p.Gln1948=)
c.5892G>A (p.Gln1964=)
c.5874G>A (p.Gln1958=)
c.5802G>A (p.Gln1934=)
c.5829G>A (p.Gln1943=)
c.5832G>A (p.Gln1944=)
c.5871G>A (p.Gln1957=)
c.5841G>A (p.Gln1947=)
n.2663G>A
c.5736G>A (p.Gln1912=)
c.5799G>A (p.Gln1933=)
c.5739G>A (p.Gln1913=)
c.5937G>A (p.Gln1979=)
c.5934G>A (p.Gln1978=)
2g.71679067G>CCA347226231DYSFc.3309G>C (p.Gln1103His)
c.2526G>C (p.Gln842His)
c.2634G>C (p.Gln878His)
c.5778G>C (p.Gln1926His)
c.5895G>C (p.Gln1965His)
c.5781G>C (p.Gln1927His)
c.5844G>C (p.Gln1948His)
c.5892G>C (p.Gln1964His)
c.5874G>C (p.Gln1958His)
c.5802G>C (p.Gln1934His)
c.5829G>C (p.Gln1943His)
c.5832G>C (p.Gln1944His)
c.5871G>C (p.Gln1957His)
c.5841G>C (p.Gln1947His)
n.2663G>C
c.5736G>C (p.Gln1912His)
c.5799G>C (p.Gln1933His)
c.5739G>C (p.Gln1913His)
c.5937G>C (p.Gln1979His)
c.5934G>C (p.Gln1978His)
 gnomAD v4
2g.71679067G>TCA347226232DYSFc.3309G>T (p.Gln1103His)
c.2526G>T (p.Gln842His)
c.2634G>T (p.Gln878His)
c.5778G>T (p.Gln1926His)
c.5895G>T (p.Gln1965His)
c.5781G>T (p.Gln1927His)
c.5844G>T (p.Gln1948His)
c.5892G>T (p.Gln1964His)
c.5874G>T (p.Gln1958His)
c.5802G>T (p.Gln1934His)
c.5829G>T (p.Gln1943His)
c.5832G>T (p.Gln1944His)
c.5871G>T (p.Gln1957His)
c.5841G>T (p.Gln1947His)
n.2663G>T
c.5736G>T (p.Gln1912His)
c.5799G>T (p.Gln1933His)
c.5739G>T (p.Gln1913His)
c.5937G>T (p.Gln1979His)
c.5934G>T (p.Gln1978His)
2g.71679068C>ACA347226235DYSFc.3310C>A (p.Leu1104Ile)
c.2527C>A (p.Leu843Ile)
c.2635C>A (p.Leu879Ile)
c.5779C>A (p.Leu1927Ile)
c.5896C>A (p.Leu1966Ile)
c.5782C>A (p.Leu1928Ile)
c.5845C>A (p.Leu1949Ile)
c.5893C>A (p.Leu1965Ile)
c.5875C>A (p.Leu1959Ile)
c.5803C>A (p.Leu1935Ile)
c.5830C>A (p.Leu1944Ile)
c.5833C>A (p.Leu1945Ile)
c.5872C>A (p.Leu1958Ile)
c.5842C>A (p.Leu1948Ile)
n.2664C>A
c.5737C>A (p.Leu1913Ile)
c.5800C>A (p.Leu1934Ile)
c.5740C>A (p.Leu1914Ile)
c.5938C>A (p.Leu1980Ile)
c.5935C>A (p.Leu1979Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.71679068C=CA1260156824DYSFc.3310C= (p.Leu1104=)
c.2527C= (p.Leu843=)
c.2635C= (p.Leu879=)
c.5779C= (p.Leu1927=)
c.5896C= (p.Leu1966=)
c.5782C= (p.Leu1928=)
c.5845C= (p.Leu1949=)
c.5893C= (p.Leu1965=)
c.5875C= (p.Leu1959=)
c.5803C= (p.Leu1935=)
c.5830C= (p.Leu1944=)
c.5833C= (p.Leu1945=)
c.5872C= (p.Leu1958=)
c.5842C= (p.Leu1948=)
n.2664C=
c.5737C= (p.Leu1913=)
c.5800C= (p.Leu1934=)
c.5740C= (p.Leu1914=)
c.5938C= (p.Leu1980=)
c.5935C= (p.Leu1979=)
2g.71679068C>GCA347226233DYSFc.3310C>G (p.Leu1104Val)
c.2527C>G (p.Leu843Val)
c.2635C>G (p.Leu879Val)
c.5779C>G (p.Leu1927Val)
c.5896C>G (p.Leu1966Val)
c.5782C>G (p.Leu1928Val)
c.5845C>G (p.Leu1949Val)
c.5893C>G (p.Leu1965Val)
c.5875C>G (p.Leu1959Val)
c.5803C>G (p.Leu1935Val)
c.5830C>G (p.Leu1944Val)
c.5833C>G (p.Leu1945Val)
c.5872C>G (p.Leu1958Val)
c.5842C>G (p.Leu1948Val)
n.2664C>G
c.5737C>G (p.Leu1913Val)
c.5800C>G (p.Leu1934Val)
c.5740C>G (p.Leu1914Val)
c.5938C>G (p.Leu1980Val)
c.5935C>G (p.Leu1979Val)
2g.71679068C>TCA347226234DYSFc.3310C>T (p.Leu1104Phe)
c.2527C>T (p.Leu843Phe)
c.2635C>T (p.Leu879Phe)
c.5779C>T (p.Leu1927Phe)
c.5896C>T (p.Leu1966Phe)
c.5782C>T (p.Leu1928Phe)
c.5845C>T (p.Leu1949Phe)
c.5893C>T (p.Leu1965Phe)
c.5875C>T (p.Leu1959Phe)
c.5803C>T (p.Leu1935Phe)
c.5830C>T (p.Leu1944Phe)
c.5833C>T (p.Leu1945Phe)
c.5872C>T (p.Leu1958Phe)
c.5842C>T (p.Leu1948Phe)
n.2664C>T
c.5737C>T (p.Leu1913Phe)
c.5800C>T (p.Leu1934Phe)
c.5740C>T (p.Leu1914Phe)
c.5938C>T (p.Leu1980Phe)
c.5935C>T (p.Leu1979Phe)
2g.71679069T>ACA347226236DYSFc.3311T>A (p.Leu1104His)
c.2528T>A (p.Leu843His)
c.2636T>A (p.Leu879His)
c.5780T>A (p.Leu1927His)
c.5897T>A (p.Leu1966His)
c.5783T>A (p.Leu1928His)
c.5846T>A (p.Leu1949His)
c.5894T>A (p.Leu1965His)
c.5876T>A (p.Leu1959His)
c.5804T>A (p.Leu1935His)
c.5831T>A (p.Leu1944His)
c.5834T>A (p.Leu1945His)
c.5873T>A (p.Leu1958His)
c.5843T>A (p.Leu1948His)
n.2665T>A
c.5738T>A (p.Leu1913His)
c.5801T>A (p.Leu1934His)
c.5741T>A (p.Leu1914His)
c.5939T>A (p.Leu1980His)
c.5936T>A (p.Leu1979His)
2g.71679069T>CCA347226237DYSFc.3311T>C (p.Leu1104Pro)
c.2528T>C (p.Leu843Pro)
c.2636T>C (p.Leu879Pro)
c.5780T>C (p.Leu1927Pro)
c.5897T>C (p.Leu1966Pro)
c.5783T>C (p.Leu1928Pro)
c.5846T>C (p.Leu1949Pro)
c.5894T>C (p.Leu1965Pro)
c.5876T>C (p.Leu1959Pro)
c.5804T>C (p.Leu1935Pro)
c.5831T>C (p.Leu1944Pro)
c.5834T>C (p.Leu1945Pro)
c.5873T>C (p.Leu1958Pro)
c.5843T>C (p.Leu1948Pro)
n.2665T>C
c.5738T>C (p.Leu1913Pro)
c.5801T>C (p.Leu1934Pro)
c.5741T>C (p.Leu1914Pro)
c.5939T>C (p.Leu1980Pro)
c.5936T>C (p.Leu1979Pro)
2g.71679069T>GCA347226238DYSFc.3311T>G (p.Leu1104Arg)
c.2528T>G (p.Leu843Arg)
c.2636T>G (p.Leu879Arg)
c.5780T>G (p.Leu1927Arg)
c.5897T>G (p.Leu1966Arg)
c.5783T>G (p.Leu1928Arg)
c.5846T>G (p.Leu1949Arg)
c.5894T>G (p.Leu1965Arg)
c.5876T>G (p.Leu1959Arg)
c.5804T>G (p.Leu1935Arg)
c.5831T>G (p.Leu1944Arg)
c.5834T>G (p.Leu1945Arg)
c.5873T>G (p.Leu1958Arg)
c.5843T>G (p.Leu1948Arg)
n.2665T>G
c.5738T>G (p.Leu1913Arg)
c.5801T>G (p.Leu1934Arg)
c.5741T>G (p.Leu1914Arg)
c.5939T>G (p.Leu1980Arg)
c.5936T>G (p.Leu1979Arg)
2g.71679071_71679074dupCA1707544DYSFc.3313_3316dup (p.Leu1106ArgfsTer22)
c.2530_2533dup (p.Leu845ArgfsTer22)
c.2638_2641dup (p.Leu881ArgfsTer22)
c.5782_5785dup (p.Leu1929ArgfsTer22)
c.5899_5902dup (p.Leu1968ArgfsTer22)
c.5785_5788dup (p.Leu1930ArgfsTer22)
c.5848_5851dup (p.Leu1951ArgfsTer22)
c.5896_5899dup (p.Leu1967ArgfsTer22)
c.5878_5881dup (p.Leu1961ArgfsTer22)
c.5806_5809dup (p.Leu1937ArgfsTer22)
c.5833_5836dup (p.Leu1946ArgfsTer22)
c.5836_5839dup (p.Leu1947ArgfsTer22)
c.5875_5878dup (p.Leu1960ArgfsTer22)
c.5845_5848dup (p.Leu1950ArgfsTer22)
n.2667_2670dup
c.5740_5743dup (p.Leu1915ArgfsTer22)
c.5803_5806dup (p.Leu1936ArgfsTer22)
c.5743_5746dup (p.Leu1916ArgfsTer22)
c.5941_5944dup (p.Leu1982ArgfsTer22)
c.5938_5941dup (p.Leu1981ArgfsTer22)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71679070C>ACA426704668DYSFc.3312C>A (p.Leu1104=)
c.2529C>A (p.Leu843=)
c.2637C>A (p.Leu879=)
c.5781C>A (p.Leu1927=)
c.5898C>A (p.Leu1966=)
c.5784C>A (p.Leu1928=)
c.5847C>A (p.Leu1949=)
c.5895C>A (p.Leu1965=)
c.5877C>A (p.Leu1959=)
c.5805C>A (p.Leu1935=)
c.5832C>A (p.Leu1944=)
c.5835C>A (p.Leu1945=)
c.5874C>A (p.Leu1958=)
c.5844C>A (p.Leu1948=)
n.2666C>A
c.5739C>A (p.Leu1913=)
c.5802C>A (p.Leu1934=)
c.5742C>A (p.Leu1914=)
c.5940C>A (p.Leu1980=)
c.5937C>A (p.Leu1979=)
2g.71679070C=CA1260156825DYSFc.3312C= (p.Leu1104=)
c.2529C= (p.Leu843=)
c.2637C= (p.Leu879=)
c.5781C= (p.Leu1927=)
c.5898C= (p.Leu1966=)
c.5784C= (p.Leu1928=)
c.5847C= (p.Leu1949=)
c.5895C= (p.Leu1965=)
c.5877C= (p.Leu1959=)
c.5805C= (p.Leu1935=)
c.5832C= (p.Leu1944=)
c.5835C= (p.Leu1945=)
c.5874C= (p.Leu1958=)
c.5844C= (p.Leu1948=)
n.2666C=
c.5739C= (p.Leu1913=)
c.5802C= (p.Leu1934=)
c.5742C= (p.Leu1914=)
c.5940C= (p.Leu1980=)
c.5937C= (p.Leu1979=)
2g.71679070C>GCA49774304DYSFc.3312C>G (p.Leu1104=)
c.2529C>G (p.Leu843=)
c.2637C>G (p.Leu879=)
c.5781C>G (p.Leu1927=)
c.5898C>G (p.Leu1966=)
c.5784C>G (p.Leu1928=)
c.5847C>G (p.Leu1949=)
c.5895C>G (p.Leu1965=)
c.5877C>G (p.Leu1959=)
c.5805C>G (p.Leu1935=)
c.5832C>G (p.Leu1944=)
c.5835C>G (p.Leu1945=)
c.5874C>G (p.Leu1958=)
c.5844C>G (p.Leu1948=)
n.2666C>G
c.5739C>G (p.Leu1913=)
c.5802C>G (p.Leu1934=)
c.5742C>G (p.Leu1914=)
c.5940C>G (p.Leu1980=)
c.5937C>G (p.Leu1979=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71679070C>TCA1707545DYSFc.3312C>T (p.Leu1104=)
c.2529C>T (p.Leu843=)
c.2637C>T (p.Leu879=)
c.5781C>T (p.Leu1927=)
c.5898C>T (p.Leu1966=)
c.5784C>T (p.Leu1928=)
c.5847C>T (p.Leu1949=)
c.5895C>T (p.Leu1965=)
c.5877C>T (p.Leu1959=)
c.5805C>T (p.Leu1935=)
c.5832C>T (p.Leu1944=)
c.5835C>T (p.Leu1945=)
c.5874C>T (p.Leu1958=)
c.5844C>T (p.Leu1948=)
n.2666C>T
c.5739C>T (p.Leu1913=)
c.5802C>T (p.Leu1934=)
c.5742C>T (p.Leu1914=)
c.5940C>T (p.Leu1980=)
c.5937C>T (p.Leu1979=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71679071G>ACA347226241DYSFc.3313G>A (p.Asp1105Asn)
c.2530G>A (p.Asp844Asn)
c.2638G>A (p.Asp880Asn)
c.5782G>A (p.Asp1928Asn)
c.5899G>A (p.Asp1967Asn)
c.5785G>A (p.Asp1929Asn)
c.5848G>A (p.Asp1950Asn)
c.5896G>A (p.Asp1966Asn)
c.5878G>A (p.Asp1960Asn)
c.5806G>A (p.Asp1936Asn)
c.5833G>A (p.Asp1945Asn)
c.5836G>A (p.Asp1946Asn)
c.5875G>A (p.Asp1959Asn)
c.5845G>A (p.Asp1949Asn)
n.2667G>A
c.5740G>A (p.Asp1914Asn)
c.5803G>A (p.Asp1935Asn)
c.5743G>A (p.Asp1915Asn)
c.5941G>A (p.Asp1981Asn)
c.5938G>A (p.Asp1980Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71679071G>CCA347226239DYSFc.3313G>C (p.Asp1105His)
c.2530G>C (p.Asp844His)
c.2638G>C (p.Asp880His)
c.5782G>C (p.Asp1928His)
c.5899G>C (p.Asp1967His)
c.5785G>C (p.Asp1929His)
c.5848G>C (p.Asp1950His)
c.5896G>C (p.Asp1966His)
c.5878G>C (p.Asp1960His)
c.5806G>C (p.Asp1936His)
c.5833G>C (p.Asp1945His)
c.5836G>C (p.Asp1946His)
c.5875G>C (p.Asp1959His)
c.5845G>C (p.Asp1949His)
n.2667G>C
c.5740G>C (p.Asp1914His)
c.5803G>C (p.Asp1935His)
c.5743G>C (p.Asp1915His)
c.5941G>C (p.Asp1981His)
c.5938G>C (p.Asp1980His)
2g.71679071G=CA1260156826DYSFc.3313G= (p.Asp1105=)
c.2530G= (p.Asp844=)
c.2638G= (p.Asp880=)
c.5782G= (p.Asp1928=)
c.5899G= (p.Asp1967=)
c.5785G= (p.Asp1929=)
c.5848G= (p.Asp1950=)
c.5896G= (p.Asp1966=)
c.5878G= (p.Asp1960=)
c.5806G= (p.Asp1936=)
c.5833G= (p.Asp1945=)
c.5836G= (p.Asp1946=)
c.5875G= (p.Asp1959=)
c.5845G= (p.Asp1949=)
n.2667G=
c.5740G= (p.Asp1914=)
c.5803G= (p.Asp1935=)
c.5743G= (p.Asp1915=)
c.5941G= (p.Asp1981=)
c.5938G= (p.Asp1980=)
2g.71679071G>TCA347226240DYSFc.3313G>T (p.Asp1105Tyr)
c.2530G>T (p.Asp844Tyr)
c.2638G>T (p.Asp880Tyr)
c.5782G>T (p.Asp1928Tyr)
c.5899G>T (p.Asp1967Tyr)
c.5785G>T (p.Asp1929Tyr)
c.5848G>T (p.Asp1950Tyr)
c.5896G>T (p.Asp1966Tyr)
c.5878G>T (p.Asp1960Tyr)
c.5806G>T (p.Asp1936Tyr)
c.5833G>T (p.Asp1945Tyr)
c.5836G>T (p.Asp1946Tyr)
c.5875G>T (p.Asp1959Tyr)
c.5845G>T (p.Asp1949Tyr)
n.2667G>T
c.5740G>T (p.Asp1914Tyr)
c.5803G>T (p.Asp1935Tyr)
c.5743G>T (p.Asp1915Tyr)
c.5941G>T (p.Asp1981Tyr)
c.5938G>T (p.Asp1980Tyr)
 dbSNP gnomAD v4
2g.71679072A>CCA347226242DYSFc.3314A>C (p.Asp1105Ala)
c.2531A>C (p.Asp844Ala)
c.2639A>C (p.Asp880Ala)
c.5783A>C (p.Asp1928Ala)
c.5900A>C (p.Asp1967Ala)
c.5786A>C (p.Asp1929Ala)
c.5849A>C (p.Asp1950Ala)
c.5897A>C (p.Asp1966Ala)
c.5879A>C (p.Asp1960Ala)
c.5807A>C (p.Asp1936Ala)
c.5834A>C (p.Asp1945Ala)
c.5837A>C (p.Asp1946Ala)
c.5876A>C (p.Asp1959Ala)
c.5846A>C (p.Asp1949Ala)
n.2668A>C
c.5741A>C (p.Asp1914Ala)
c.5804A>C (p.Asp1935Ala)
c.5744A>C (p.Asp1915Ala)
c.5942A>C (p.Asp1981Ala)
c.5939A>C (p.Asp1980Ala)
2g.71679072A>GCA347226243DYSFc.3314A>G (p.Asp1105Gly)
c.2531A>G (p.Asp844Gly)
c.2639A>G (p.Asp880Gly)
c.5783A>G (p.Asp1928Gly)
c.5900A>G (p.Asp1967Gly)
c.5786A>G (p.Asp1929Gly)
c.5849A>G (p.Asp1950Gly)
c.5897A>G (p.Asp1966Gly)
c.5879A>G (p.Asp1960Gly)
c.5807A>G (p.Asp1936Gly)
c.5834A>G (p.Asp1945Gly)
c.5837A>G (p.Asp1946Gly)
c.5876A>G (p.Asp1959Gly)
c.5846A>G (p.Asp1949Gly)
n.2668A>G
c.5741A>G (p.Asp1914Gly)
c.5804A>G (p.Asp1935Gly)
c.5744A>G (p.Asp1915Gly)
c.5942A>G (p.Asp1981Gly)
c.5939A>G (p.Asp1980Gly)
2g.71679072A>TCA347226244DYSFc.3314A>T (p.Asp1105Val)
c.2531A>T (p.Asp844Val)
c.2639A>T (p.Asp880Val)
c.5783A>T (p.Asp1928Val)
c.5900A>T (p.Asp1967Val)
c.5786A>T (p.Asp1929Val)
c.5849A>T (p.Asp1950Val)
c.5897A>T (p.Asp1966Val)
c.5879A>T (p.Asp1960Val)
c.5807A>T (p.Asp1936Val)
c.5834A>T (p.Asp1945Val)
c.5837A>T (p.Asp1946Val)
c.5876A>T (p.Asp1959Val)
c.5846A>T (p.Asp1949Val)
n.2668A>T
c.5741A>T (p.Asp1914Val)
c.5804A>T (p.Asp1935Val)
c.5744A>T (p.Asp1915Val)
c.5942A>T (p.Asp1981Val)
c.5939A>T (p.Asp1980Val)
2g.71679073T>ACA347226245DYSFc.3315T>A (p.Asp1105Glu)
c.2532T>A (p.Asp844Glu)
c.2640T>A (p.Asp880Glu)
c.5784T>A (p.Asp1928Glu)
c.5901T>A (p.Asp1967Glu)
c.5787T>A (p.Asp1929Glu)
c.5850T>A (p.Asp1950Glu)
c.5898T>A (p.Asp1966Glu)
c.5880T>A (p.Asp1960Glu)
c.5808T>A (p.Asp1936Glu)
c.5835T>A (p.Asp1945Glu)
c.5838T>A (p.Asp1946Glu)
c.5877T>A (p.Asp1959Glu)
c.5847T>A (p.Asp1949Glu)
n.2669T>A
c.5742T>A (p.Asp1914Glu)
c.5805T>A (p.Asp1935Glu)
c.5745T>A (p.Asp1915Glu)
c.5943T>A (p.Asp1981Glu)
c.5940T>A (p.Asp1980Glu)
2g.71679073T>CCA426704669DYSFc.3315T>C (p.Asp1105=)
c.2532T>C (p.Asp844=)
c.2640T>C (p.Asp880=)
c.5784T>C (p.Asp1928=)
c.5901T>C (p.Asp1967=)
c.5787T>C (p.Asp1929=)
c.5850T>C (p.Asp1950=)
c.5898T>C (p.Asp1966=)
c.5880T>C (p.Asp1960=)
c.5808T>C (p.Asp1936=)
c.5835T>C (p.Asp1945=)
c.5838T>C (p.Asp1946=)
c.5877T>C (p.Asp1959=)
c.5847T>C (p.Asp1949=)
n.2669T>C
c.5742T>C (p.Asp1914=)
c.5805T>C (p.Asp1935=)
c.5745T>C (p.Asp1915=)
c.5943T>C (p.Asp1981=)
c.5940T>C (p.Asp1980=)
2g.71679073T>GCA347226246DYSFc.3315T>G (p.Asp1105Glu)
c.2532T>G (p.Asp844Glu)
c.2640T>G (p.Asp880Glu)
c.5784T>G (p.Asp1928Glu)
c.5901T>G (p.Asp1967Glu)
c.5787T>G (p.Asp1929Glu)
c.5850T>G (p.Asp1950Glu)
c.5898T>G (p.Asp1966Glu)
c.5880T>G (p.Asp1960Glu)
c.5808T>G (p.Asp1936Glu)
c.5835T>G (p.Asp1945Glu)
c.5838T>G (p.Asp1946Glu)
c.5877T>G (p.Asp1959Glu)
c.5847T>G (p.Asp1949Glu)
n.2669T>G
c.5742T>G (p.Asp1914Glu)
c.5805T>G (p.Asp1935Glu)
c.5745T>G (p.Asp1915Glu)
c.5943T>G (p.Asp1981Glu)
c.5940T>G (p.Asp1980Glu)
2g.71679074C>ACA347226247DYSFc.3316C>A (p.Leu1106Ile)
c.2533C>A (p.Leu845Ile)
c.2641C>A (p.Leu881Ile)
c.5785C>A (p.Leu1929Ile)
c.5902C>A (p.Leu1968Ile)
c.5788C>A (p.Leu1930Ile)
c.5851C>A (p.Leu1951Ile)
c.5899C>A (p.Leu1967Ile)
c.5881C>A (p.Leu1961Ile)
c.5809C>A (p.Leu1937Ile)
c.5836C>A (p.Leu1946Ile)
c.5839C>A (p.Leu1947Ile)
c.5878C>A (p.Leu1960Ile)
c.5848C>A (p.Leu1950Ile)
n.2670C>A
c.5743C>A (p.Leu1915Ile)
c.5806C>A (p.Leu1936Ile)
c.5746C>A (p.Leu1916Ile)
c.5944C>A (p.Leu1982Ile)
c.5941C>A (p.Leu1981Ile)
 COSMIC COSMIC
2g.71679074C>GCA347226248DYSFc.3316C>G (p.Leu1106Val)
c.2533C>G (p.Leu845Val)
c.2641C>G (p.Leu881Val)
c.5785C>G (p.Leu1929Val)
c.5902C>G (p.Leu1968Val)
c.5788C>G (p.Leu1930Val)
c.5851C>G (p.Leu1951Val)
c.5899C>G (p.Leu1967Val)
c.5881C>G (p.Leu1961Val)
c.5809C>G (p.Leu1937Val)
c.5836C>G (p.Leu1946Val)
c.5839C>G (p.Leu1947Val)
c.5878C>G (p.Leu1960Val)
c.5848C>G (p.Leu1950Val)
n.2670C>G
c.5743C>G (p.Leu1915Val)
c.5806C>G (p.Leu1936Val)
c.5746C>G (p.Leu1916Val)
c.5944C>G (p.Leu1982Val)
c.5941C>G (p.Leu1981Val)
2g.71679074C>TCA347226249DYSFc.3316C>T (p.Leu1106Phe)
c.2533C>T (p.Leu845Phe)
c.2641C>T (p.Leu881Phe)
c.5785C>T (p.Leu1929Phe)
c.5902C>T (p.Leu1968Phe)
c.5788C>T (p.Leu1930Phe)
c.5851C>T (p.Leu1951Phe)
c.5899C>T (p.Leu1967Phe)
c.5881C>T (p.Leu1961Phe)
c.5809C>T (p.Leu1937Phe)
c.5836C>T (p.Leu1946Phe)
c.5839C>T (p.Leu1947Phe)
c.5878C>T (p.Leu1960Phe)
c.5848C>T (p.Leu1950Phe)
n.2670C>T
c.5743C>T (p.Leu1915Phe)
c.5806C>T (p.Leu1936Phe)
c.5746C>T (p.Leu1916Phe)
c.5944C>T (p.Leu1982Phe)
c.5941C>T (p.Leu1981Phe)
2g.71679075T>ACA347226250DYSFc.3317T>A (p.Leu1106His)
c.2534T>A (p.Leu845His)
c.2642T>A (p.Leu881His)
c.5786T>A (p.Leu1929His)
c.5903T>A (p.Leu1968His)
c.5789T>A (p.Leu1930His)
c.5852T>A (p.Leu1951His)
c.5900T>A (p.Leu1967His)
c.5882T>A (p.Leu1961His)
c.5810T>A (p.Leu1937His)
c.5837T>A (p.Leu1946His)
c.5840T>A (p.Leu1947His)
c.5879T>A (p.Leu1960His)
c.5849T>A (p.Leu1950His)
n.2671T>A
c.5744T>A (p.Leu1915His)
c.5807T>A (p.Leu1936His)
c.5747T>A (p.Leu1916His)
c.5945T>A (p.Leu1982His)
c.5942T>A (p.Leu1981His)
2g.71679075T>CCA347226251DYSFc.3317T>C (p.Leu1106Pro)
c.2534T>C (p.Leu845Pro)
c.2642T>C (p.Leu881Pro)
c.5786T>C (p.Leu1929Pro)
c.5903T>C (p.Leu1968Pro)
c.5789T>C (p.Leu1930Pro)
c.5852T>C (p.Leu1951Pro)
c.5900T>C (p.Leu1967Pro)
c.5882T>C (p.Leu1961Pro)
c.5810T>C (p.Leu1937Pro)
c.5837T>C (p.Leu1946Pro)
c.5840T>C (p.Leu1947Pro)
c.5879T>C (p.Leu1960Pro)
c.5849T>C (p.Leu1950Pro)
n.2671T>C
c.5744T>C (p.Leu1915Pro)
c.5807T>C (p.Leu1936Pro)
c.5747T>C (p.Leu1916Pro)
c.5945T>C (p.Leu1982Pro)
c.5942T>C (p.Leu1981Pro)
2g.71679075T>GCA347226252DYSFc.3317T>G (p.Leu1106Arg)
c.2534T>G (p.Leu845Arg)
c.2642T>G (p.Leu881Arg)
c.5786T>G (p.Leu1929Arg)
c.5903T>G (p.Leu1968Arg)
c.5789T>G (p.Leu1930Arg)
c.5852T>G (p.Leu1951Arg)
c.5900T>G (p.Leu1967Arg)
c.5882T>G (p.Leu1961Arg)
c.5810T>G (p.Leu1937Arg)
c.5837T>G (p.Leu1946Arg)
c.5840T>G (p.Leu1947Arg)
c.5879T>G (p.Leu1960Arg)
c.5849T>G (p.Leu1950Arg)
n.2671T>G
c.5744T>G (p.Leu1915Arg)
c.5807T>G (p.Leu1936Arg)
c.5747T>G (p.Leu1916Arg)
c.5945T>G (p.Leu1982Arg)
c.5942T>G (p.Leu1981Arg)
2g.71679076C>ACA426704670DYSFc.3318C>A (p.Leu1106=)
c.2535C>A (p.Leu845=)
c.2643C>A (p.Leu881=)
c.5787C>A (p.Leu1929=)
c.5904C>A (p.Leu1968=)
c.5790C>A (p.Leu1930=)
c.5853C>A (p.Leu1951=)
c.5901C>A (p.Leu1967=)
c.5883C>A (p.Leu1961=)
c.5811C>A (p.Leu1937=)
c.5838C>A (p.Leu1946=)
c.5841C>A (p.Leu1947=)
c.5880C>A (p.Leu1960=)
c.5850C>A (p.Leu1950=)
n.2672C>A
c.5745C>A (p.Leu1915=)
c.5808C>A (p.Leu1936=)
c.5748C>A (p.Leu1916=)
c.5946C>A (p.Leu1982=)
c.5943C>A (p.Leu1981=)
 gnomAD v4
2g.71679076C>GCA426704671DYSFc.3318C>G (p.Leu1106=)
c.2535C>G (p.Leu845=)
c.2643C>G (p.Leu881=)
c.5787C>G (p.Leu1929=)
c.5904C>G (p.Leu1968=)
c.5790C>G (p.Leu1930=)
c.5853C>G (p.Leu1951=)
c.5901C>G (p.Leu1967=)
c.5883C>G (p.Leu1961=)
c.5811C>G (p.Leu1937=)
c.5838C>G (p.Leu1946=)
c.5841C>G (p.Leu1947=)
c.5880C>G (p.Leu1960=)
c.5850C>G (p.Leu1950=)
n.2672C>G
c.5745C>G (p.Leu1915=)
c.5808C>G (p.Leu1936=)
c.5748C>G (p.Leu1916=)
c.5946C>G (p.Leu1982=)
c.5943C>G (p.Leu1981=)
2g.71679076C>TCA426704672DYSFc.3318C>T (p.Leu1106=)
c.2535C>T (p.Leu845=)
c.2643C>T (p.Leu881=)
c.5787C>T (p.Leu1929=)
c.5904C>T (p.Leu1968=)
c.5790C>T (p.Leu1930=)
c.5853C>T (p.Leu1951=)
c.5901C>T (p.Leu1967=)
c.5883C>T (p.Leu1961=)
c.5811C>T (p.Leu1937=)
c.5838C>T (p.Leu1946=)
c.5841C>T (p.Leu1947=)
c.5880C>T (p.Leu1960=)
c.5850C>T (p.Leu1950=)
n.2672C>T
c.5745C>T (p.Leu1915=)
c.5808C>T (p.Leu1936=)
c.5748C>T (p.Leu1916=)
c.5946C>T (p.Leu1982=)
c.5943C>T (p.Leu1981=)
 gnomAD v4
2g.71679077A>CCA347226253DYSFc.3319A>C (p.Asn1107His)
c.2536A>C (p.Asn846His)
c.2644A>C (p.Asn882His)
c.5788A>C (p.Asn1930His)
c.5905A>C (p.Asn1969His)
c.5791A>C (p.Asn1931His)
c.5854A>C (p.Asn1952His)
c.5902A>C (p.Asn1968His)
c.5884A>C (p.Asn1962His)
c.5812A>C (p.Asn1938His)
c.5839A>C (p.Asn1947His)
c.5842A>C (p.Asn1948His)
c.5881A>C (p.Asn1961His)
c.5851A>C (p.Asn1951His)
n.2673A>C
c.5746A>C (p.Asn1916His)
c.5809A>C (p.Asn1937His)
c.5749A>C (p.Asn1917His)
c.5947A>C (p.Asn1983His)
c.5944A>C (p.Asn1982His)
2g.71679077A>GCA347226254DYSFc.3319A>G (p.Asn1107Asp)
c.2536A>G (p.Asn846Asp)
c.2644A>G (p.Asn882Asp)
c.5788A>G (p.Asn1930Asp)
c.5905A>G (p.Asn1969Asp)
c.5791A>G (p.Asn1931Asp)
c.5854A>G (p.Asn1952Asp)
c.5902A>G (p.Asn1968Asp)
c.5884A>G (p.Asn1962Asp)
c.5812A>G (p.Asn1938Asp)
c.5839A>G (p.Asn1947Asp)
c.5842A>G (p.Asn1948Asp)
c.5881A>G (p.Asn1961Asp)
c.5851A>G (p.Asn1951Asp)
n.2673A>G
c.5746A>G (p.Asn1916Asp)
c.5809A>G (p.Asn1937Asp)
c.5749A>G (p.Asn1917Asp)
c.5947A>G (p.Asn1983Asp)
c.5944A>G (p.Asn1982Asp)
2g.71679077A>TCA347226255DYSFc.3319A>T (p.Asn1107Tyr)
c.2536A>T (p.Asn846Tyr)
c.2644A>T (p.Asn882Tyr)
c.5788A>T (p.Asn1930Tyr)
c.5905A>T (p.Asn1969Tyr)
c.5791A>T (p.Asn1931Tyr)
c.5854A>T (p.Asn1952Tyr)
c.5902A>T (p.Asn1968Tyr)
c.5884A>T (p.Asn1962Tyr)
c.5812A>T (p.Asn1938Tyr)
c.5839A>T (p.Asn1947Tyr)
c.5842A>T (p.Asn1948Tyr)
c.5881A>T (p.Asn1961Tyr)
c.5851A>T (p.Asn1951Tyr)
n.2673A>T
c.5746A>T (p.Asn1916Tyr)
c.5809A>T (p.Asn1937Tyr)
c.5749A>T (p.Asn1917Tyr)
c.5947A>T (p.Asn1983Tyr)
c.5944A>T (p.Asn1982Tyr)
2g.71679078A=CA1260156827DYSFc.3320A= (p.Asn1107=)
c.2537A= (p.Asn846=)
c.2645A= (p.Asn882=)
c.5789A= (p.Asn1930=)
c.5906A= (p.Asn1969=)
c.5792A= (p.Asn1931=)
c.5855A= (p.Asn1952=)
c.5903A= (p.Asn1968=)
c.5885A= (p.Asn1962=)
c.5813A= (p.Asn1938=)
c.5840A= (p.Asn1947=)
c.5843A= (p.Asn1948=)
c.5882A= (p.Asn1961=)
c.5852A= (p.Asn1951=)
n.2674A=
c.5747A= (p.Asn1916=)
c.5810A= (p.Asn1937=)
c.5750A= (p.Asn1917=)
c.5948A= (p.Asn1983=)
c.5945A= (p.Asn1982=)
2g.71679078A>CCA1707546DYSFc.3320A>C (p.Asn1107Thr)
c.2537A>C (p.Asn846Thr)
c.2645A>C (p.Asn882Thr)
c.5789A>C (p.Asn1930Thr)
c.5906A>C (p.Asn1969Thr)
c.5792A>C (p.Asn1931Thr)
c.5855A>C (p.Asn1952Thr)
c.5903A>C (p.Asn1968Thr)
c.5885A>C (p.Asn1962Thr)
c.5813A>C (p.Asn1938Thr)
c.5840A>C (p.Asn1947Thr)
c.5843A>C (p.Asn1948Thr)
c.5882A>C (p.Asn1961Thr)
c.5852A>C (p.Asn1951Thr)
n.2674A>C
c.5747A>C (p.Asn1916Thr)
c.5810A>C (p.Asn1937Thr)
c.5750A>C (p.Asn1917Thr)
c.5948A>C (p.Asn1983Thr)
c.5945A>C (p.Asn1982Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71679078A>GCA1707547DYSFc.3320A>G (p.Asn1107Ser)
c.2537A>G (p.Asn846Ser)
c.2645A>G (p.Asn882Ser)
c.5789A>G (p.Asn1930Ser)
c.5906A>G (p.Asn1969Ser)
c.5792A>G (p.Asn1931Ser)
c.5855A>G (p.Asn1952Ser)
c.5903A>G (p.Asn1968Ser)
c.5885A>G (p.Asn1962Ser)
c.5813A>G (p.Asn1938Ser)
c.5840A>G (p.Asn1947Ser)
c.5843A>G (p.Asn1948Ser)
c.5882A>G (p.Asn1961Ser)
c.5852A>G (p.Asn1951Ser)
n.2674A>G
c.5747A>G (p.Asn1916Ser)
c.5810A>G (p.Asn1937Ser)
c.5750A>G (p.Asn1917Ser)
c.5948A>G (p.Asn1983Ser)
c.5945A>G (p.Asn1982Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71679078A>TCA347226256DYSFc.3320A>T (p.Asn1107Ile)
c.2537A>T (p.Asn846Ile)
c.2645A>T (p.Asn882Ile)
c.5789A>T (p.Asn1930Ile)
c.5906A>T (p.Asn1969Ile)
c.5792A>T (p.Asn1931Ile)
c.5855A>T (p.Asn1952Ile)
c.5903A>T (p.Asn1968Ile)
c.5885A>T (p.Asn1962Ile)
c.5813A>T (p.Asn1938Ile)
c.5840A>T (p.Asn1947Ile)
c.5843A>T (p.Asn1948Ile)
c.5882A>T (p.Asn1961Ile)
c.5852A>T (p.Asn1951Ile)
n.2674A>T
c.5747A>T (p.Asn1916Ile)
c.5810A>T (p.Asn1937Ile)
c.5750A>T (p.Asn1917Ile)
c.5948A>T (p.Asn1983Ile)
c.5945A>T (p.Asn1982Ile)
2g.71679079C>ACA347226257DYSFc.3321C>A (p.Asn1107Lys)
c.2538C>A (p.Asn846Lys)
c.2646C>A (p.Asn882Lys)
c.5790C>A (p.Asn1930Lys)
c.5907C>A (p.Asn1969Lys)
c.5793C>A (p.Asn1931Lys)
c.5856C>A (p.Asn1952Lys)
c.5904C>A (p.Asn1968Lys)
c.5886C>A (p.Asn1962Lys)
c.5814C>A (p.Asn1938Lys)
c.5841C>A (p.Asn1947Lys)
c.5844C>A (p.Asn1948Lys)
c.5883C>A (p.Asn1961Lys)
c.5853C>A (p.Asn1951Lys)
n.2675C>A
c.5748C>A (p.Asn1916Lys)
c.5811C>A (p.Asn1937Lys)
c.5751C>A (p.Asn1917Lys)
c.5949C>A (p.Asn1983Lys)
c.5946C>A (p.Asn1982Lys)
2g.71679079C>GCA347226258DYSFc.3321C>G (p.Asn1107Lys)
c.2538C>G (p.Asn846Lys)
c.2646C>G (p.Asn882Lys)
c.5790C>G (p.Asn1930Lys)
c.5907C>G (p.Asn1969Lys)
c.5793C>G (p.Asn1931Lys)
c.5856C>G (p.Asn1952Lys)
c.5904C>G (p.Asn1968Lys)
c.5886C>G (p.Asn1962Lys)
c.5814C>G (p.Asn1938Lys)
c.5841C>G (p.Asn1947Lys)
c.5844C>G (p.Asn1948Lys)
c.5883C>G (p.Asn1961Lys)
c.5853C>G (p.Asn1951Lys)
n.2675C>G
c.5748C>G (p.Asn1916Lys)
c.5811C>G (p.Asn1937Lys)
c.5751C>G (p.Asn1917Lys)
c.5949C>G (p.Asn1983Lys)
c.5946C>G (p.Asn1982Lys)
2g.71679079C>TCA426704674DYSFc.3321C>T (p.Asn1107=)
c.2538C>T (p.Asn846=)
c.2646C>T (p.Asn882=)
c.5790C>T (p.Asn1930=)
c.5907C>T (p.Asn1969=)
c.5793C>T (p.Asn1931=)
c.5856C>T (p.Asn1952=)
c.5904C>T (p.Asn1968=)
c.5886C>T (p.Asn1962=)
c.5814C>T (p.Asn1938=)
c.5841C>T (p.Asn1947=)
c.5844C>T (p.Asn1948=)
c.5883C>T (p.Asn1961=)
c.5853C>T (p.Asn1951=)
n.2675C>T
c.5748C>T (p.Asn1916=)
c.5811C>T (p.Asn1937=)
c.5751C>T (p.Asn1917=)
c.5949C>T (p.Asn1983=)
c.5946C>T (p.Asn1982=)
 gnomAD v4
2g.71679080C>ACA347226259DYSFc.3322C>A (p.Arg1108Ser)
c.2539C>A (p.Arg847Ser)
c.2647C>A (p.Arg883Ser)
c.5791C>A (p.Arg1931Ser)
c.5908C>A (p.Arg1970Ser)
c.5794C>A (p.Arg1932Ser)
c.5857C>A (p.Arg1953Ser)
c.5905C>A (p.Arg1969Ser)
c.5887C>A (p.Arg1963Ser)
c.5815C>A (p.Arg1939Ser)
c.5842C>A (p.Arg1948Ser)
c.5845C>A (p.Arg1949Ser)
c.5884C>A (p.Arg1962Ser)
c.5854C>A (p.Arg1952Ser)
n.2676C>A
c.5749C>A (p.Arg1917Ser)
c.5812C>A (p.Arg1938Ser)
c.5752C>A (p.Arg1918Ser)
c.5950C>A (p.Arg1984Ser)
c.5947C>A (p.Arg1983Ser)
2g.71679080C=CA1260156828DYSFc.3322C= (p.Arg1108=)
c.2539C= (p.Arg847=)
c.2647C= (p.Arg883=)
c.5791C= (p.Arg1931=)
c.5908C= (p.Arg1970=)
c.5794C= (p.Arg1932=)
c.5857C= (p.Arg1953=)
c.5905C= (p.Arg1969=)
c.5887C= (p.Arg1963=)
c.5815C= (p.Arg1939=)
c.5842C= (p.Arg1948=)
c.5845C= (p.Arg1949=)
c.5884C= (p.Arg1962=)
c.5854C= (p.Arg1952=)
n.2676C=
c.5749C= (p.Arg1917=)
c.5812C= (p.Arg1938=)
c.5752C= (p.Arg1918=)
c.5950C= (p.Arg1984=)
c.5947C= (p.Arg1983=)
2g.71679080C>GCA347226260DYSFc.3322C>G (p.Arg1108Gly)
c.2539C>G (p.Arg847Gly)
c.2647C>G (p.Arg883Gly)
c.5791C>G (p.Arg1931Gly)
c.5908C>G (p.Arg1970Gly)
c.5794C>G (p.Arg1932Gly)
c.5857C>G (p.Arg1953Gly)
c.5905C>G (p.Arg1969Gly)
c.5887C>G (p.Arg1963Gly)
c.5815C>G (p.Arg1939Gly)
c.5842C>G (p.Arg1948Gly)
c.5845C>G (p.Arg1949Gly)
c.5884C>G (p.Arg1962Gly)
c.5854C>G (p.Arg1952Gly)
n.2676C>G
c.5749C>G (p.Arg1917Gly)
c.5812C>G (p.Arg1938Gly)
c.5752C>G (p.Arg1918Gly)
c.5950C>G (p.Arg1984Gly)
c.5947C>G (p.Arg1983Gly)
2g.71679080C>TCA1707548DYSFc.3322C>T (p.Arg1108Cys)
c.2539C>T (p.Arg847Cys)
c.2647C>T (p.Arg883Cys)
c.5791C>T (p.Arg1931Cys)
c.5908C>T (p.Arg1970Cys)
c.5794C>T (p.Arg1932Cys)
c.5857C>T (p.Arg1953Cys)
c.5905C>T (p.Arg1969Cys)
c.5887C>T (p.Arg1963Cys)
c.5815C>T (p.Arg1939Cys)
c.5842C>T (p.Arg1948Cys)
c.5845C>T (p.Arg1949Cys)
c.5884C>T (p.Arg1962Cys)
c.5854C>T (p.Arg1952Cys)
n.2676C>T
c.5749C>T (p.Arg1917Cys)
c.5812C>T (p.Arg1938Cys)
c.5752C>T (p.Arg1918Cys)
c.5950C>T (p.Arg1984Cys)
c.5947C>T (p.Arg1983Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71679081G>ACA347226261DYSFc.3323G>A (p.Arg1108His)
c.2540G>A (p.Arg847His)
c.2648G>A (p.Arg883His)
c.5792G>A (p.Arg1931His)
c.5909G>A (p.Arg1970His)
c.5795G>A (p.Arg1932His)
c.5858G>A (p.Arg1953His)
c.5906G>A (p.Arg1969His)
c.5888G>A (p.Arg1963His)
c.5816G>A (p.Arg1939His)
c.5843G>A (p.Arg1948His)
c.5846G>A (p.Arg1949His)
c.5885G>A (p.Arg1962His)
c.5855G>A (p.Arg1952His)
n.2677G>A
c.5750G>A (p.Arg1917His)
c.5813G>A (p.Arg1938His)
c.5753G>A (p.Arg1918His)
c.5951G>A (p.Arg1984His)
c.5948G>A (p.Arg1983His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71679081G>CCA347226262DYSFc.3323G>C (p.Arg1108Pro)
c.2540G>C (p.Arg847Pro)
c.2648G>C (p.Arg883Pro)
c.5792G>C (p.Arg1931Pro)
c.5909G>C (p.Arg1970Pro)
c.5795G>C (p.Arg1932Pro)
c.5858G>C (p.Arg1953Pro)
c.5906G>C (p.Arg1969Pro)
c.5888G>C (p.Arg1963Pro)
c.5816G>C (p.Arg1939Pro)
c.5843G>C (p.Arg1948Pro)
c.5846G>C (p.Arg1949Pro)
c.5885G>C (p.Arg1962Pro)
c.5855G>C (p.Arg1952Pro)
n.2677G>C
c.5750G>C (p.Arg1917Pro)
c.5813G>C (p.Arg1938Pro)
c.5753G>C (p.Arg1918Pro)
c.5951G>C (p.Arg1984Pro)
c.5948G>C (p.Arg1983Pro)
2g.71679081G=CA1260156829DYSFc.3323G= (p.Arg1108=)
c.2540G= (p.Arg847=)
c.2648G= (p.Arg883=)
c.5792G= (p.Arg1931=)
c.5909G= (p.Arg1970=)
c.5795G= (p.Arg1932=)
c.5858G= (p.Arg1953=)
c.5906G= (p.Arg1969=)
c.5888G= (p.Arg1963=)
c.5816G= (p.Arg1939=)
c.5843G= (p.Arg1948=)
c.5846G= (p.Arg1949=)
c.5885G= (p.Arg1962=)
c.5855G= (p.Arg1952=)
n.2677G=
c.5750G= (p.Arg1917=)
c.5813G= (p.Arg1938=)
c.5753G= (p.Arg1918=)
c.5951G= (p.Arg1984=)
c.5948G= (p.Arg1983=)
2g.71679081G>TCA347226263DYSFc.3323G>T (p.Arg1108Leu)
c.2540G>T (p.Arg847Leu)
c.2648G>T (p.Arg883Leu)
c.5792G>T (p.Arg1931Leu)
c.5909G>T (p.Arg1970Leu)
c.5795G>T (p.Arg1932Leu)
c.5858G>T (p.Arg1953Leu)
c.5906G>T (p.Arg1969Leu)
c.5888G>T (p.Arg1963Leu)
c.5816G>T (p.Arg1939Leu)
c.5843G>T (p.Arg1948Leu)
c.5846G>T (p.Arg1949Leu)
c.5885G>T (p.Arg1962Leu)
c.5855G>T (p.Arg1952Leu)
n.2677G>T
c.5750G>T (p.Arg1917Leu)
c.5813G>T (p.Arg1938Leu)
c.5753G>T (p.Arg1918Leu)
c.5951G>T (p.Arg1984Leu)
c.5948G>T (p.Arg1983Leu)
2g.71679082C>ACA426704675DYSFc.3324C>A (p.Arg1108=)
c.2541C>A (p.Arg847=)
c.2649C>A (p.Arg883=)
c.5793C>A (p.Arg1931=)
c.5910C>A (p.Arg1970=)
c.5796C>A (p.Arg1932=)
c.5859C>A (p.Arg1953=)
c.5907C>A (p.Arg1969=)
c.5889C>A (p.Arg1963=)
c.5817C>A (p.Arg1939=)
c.5844C>A (p.Arg1948=)
c.5847C>A (p.Arg1949=)
c.5886C>A (p.Arg1962=)
c.5856C>A (p.Arg1952=)
n.2678C>A
c.5751C>A (p.Arg1917=)
c.5814C>A (p.Arg1938=)
c.5754C>A (p.Arg1918=)
c.5952C>A (p.Arg1984=)
c.5949C>A (p.Arg1983=)
2g.71679082C>GCA426704676DYSFc.3324C>G (p.Arg1108=)
c.2541C>G (p.Arg847=)
c.2649C>G (p.Arg883=)
c.5793C>G (p.Arg1931=)
c.5910C>G (p.Arg1970=)
c.5796C>G (p.Arg1932=)
c.5859C>G (p.Arg1953=)
c.5907C>G (p.Arg1969=)
c.5889C>G (p.Arg1963=)
c.5817C>G (p.Arg1939=)
c.5844C>G (p.Arg1948=)
c.5847C>G (p.Arg1949=)
c.5886C>G (p.Arg1962=)
c.5856C>G (p.Arg1952=)
n.2678C>G
c.5751C>G (p.Arg1917=)
c.5814C>G (p.Arg1938=)
c.5754C>G (p.Arg1918=)
c.5952C>G (p.Arg1984=)
c.5949C>G (p.Arg1983=)
2g.71679082C>TCA426704677DYSFc.3324C>T (p.Arg1108=)
c.2541C>T (p.Arg847=)
c.2649C>T (p.Arg883=)
c.5793C>T (p.Arg1931=)
c.5910C>T (p.Arg1970=)
c.5796C>T (p.Arg1932=)
c.5859C>T (p.Arg1953=)
c.5907C>T (p.Arg1969=)
c.5889C>T (p.Arg1963=)
c.5817C>T (p.Arg1939=)
c.5844C>T (p.Arg1948=)
c.5847C>T (p.Arg1949=)
c.5886C>T (p.Arg1962=)
c.5856C>T (p.Arg1952=)
n.2678C>T
c.5751C>T (p.Arg1917=)
c.5814C>T (p.Arg1938=)
c.5754C>T (p.Arg1918=)
c.5952C>T (p.Arg1984=)
c.5949C>T (p.Arg1983=)
2g.71679083A=CA1260156830DYSFc.3325A= (p.Met1109=)
c.2542A= (p.Met848=)
c.2650A= (p.Met884=)
c.5794A= (p.Met1932=)
c.5911A= (p.Met1971=)
c.5797A= (p.Met1933=)
c.5860A= (p.Met1954=)
c.5908A= (p.Met1970=)
c.5890A= (p.Met1964=)
c.5818A= (p.Met1940=)
c.5845A= (p.Met1949=)
c.5848A= (p.Met1950=)
c.5887A= (p.Met1963=)
c.5857A= (p.Met1953=)
n.2679A=
c.5752A= (p.Met1918=)
c.5815A= (p.Met1939=)
c.5755A= (p.Met1919=)
c.5953A= (p.Met1985=)
c.5950A= (p.Met1984=)
2g.71679083A>CCA347226264DYSFc.3325A>C (p.Met1109Leu)
c.2542A>C (p.Met848Leu)
c.2650A>C (p.Met884Leu)
c.5794A>C (p.Met1932Leu)
c.5911A>C (p.Met1971Leu)
c.5797A>C (p.Met1933Leu)
c.5860A>C (p.Met1954Leu)
c.5908A>C (p.Met1970Leu)
c.5890A>C (p.Met1964Leu)
c.5818A>C (p.Met1940Leu)
c.5845A>C (p.Met1949Leu)
c.5848A>C (p.Met1950Leu)
c.5887A>C (p.Met1963Leu)
c.5857A>C (p.Met1953Leu)
n.2679A>C
c.5752A>C (p.Met1918Leu)
c.5815A>C (p.Met1939Leu)
c.5755A>C (p.Met1919Leu)
c.5953A>C (p.Met1985Leu)
c.5950A>C (p.Met1984Leu)
2g.71679083A>GCA1707549DYSFc.3325A>G (p.Met1109Val)
c.2542A>G (p.Met848Val)
c.2650A>G (p.Met884Val)
c.5794A>G (p.Met1932Val)
c.5911A>G (p.Met1971Val)
c.5797A>G (p.Met1933Val)
c.5860A>G (p.Met1954Val)
c.5908A>G (p.Met1970Val)
c.5890A>G (p.Met1964Val)
c.5818A>G (p.Met1940Val)
c.5845A>G (p.Met1949Val)
c.5848A>G (p.Met1950Val)
c.5887A>G (p.Met1963Val)
c.5857A>G (p.Met1953Val)
n.2679A>G
c.5752A>G (p.Met1918Val)
c.5815A>G (p.Met1939Val)
c.5755A>G (p.Met1919Val)
c.5953A>G (p.Met1985Val)
c.5950A>G (p.Met1984Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71679083A>TCA347226265DYSFc.3325A>T (p.Met1109Leu)
c.2542A>T (p.Met848Leu)
c.2650A>T (p.Met884Leu)
c.5794A>T (p.Met1932Leu)
c.5911A>T (p.Met1971Leu)
c.5797A>T (p.Met1933Leu)
c.5860A>T (p.Met1954Leu)
c.5908A>T (p.Met1970Leu)
c.5890A>T (p.Met1964Leu)
c.5818A>T (p.Met1940Leu)
c.5845A>T (p.Met1949Leu)
c.5848A>T (p.Met1950Leu)
c.5887A>T (p.Met1963Leu)
c.5857A>T (p.Met1953Leu)
n.2679A>T
c.5752A>T (p.Met1918Leu)
c.5815A>T (p.Met1939Leu)
c.5755A>T (p.Met1919Leu)
c.5953A>T (p.Met1985Leu)
c.5950A>T (p.Met1984Leu)
 gnomAD v4
2g.71679084T>ACA347226266DYSFc.3326T>A (p.Met1109Lys)
c.2543T>A (p.Met848Lys)
c.2651T>A (p.Met884Lys)
c.5795T>A (p.Met1932Lys)
c.5912T>A (p.Met1971Lys)
c.5798T>A (p.Met1933Lys)
c.5861T>A (p.Met1954Lys)
c.5909T>A (p.Met1970Lys)
c.5891T>A (p.Met1964Lys)
c.5819T>A (p.Met1940Lys)
c.5846T>A (p.Met1949Lys)
c.5849T>A (p.Met1950Lys)
c.5888T>A (p.Met1963Lys)
c.5858T>A (p.Met1953Lys)
n.2680T>A
c.5753T>A (p.Met1918Lys)
c.5816T>A (p.Met1939Lys)
c.5756T>A (p.Met1919Lys)
c.5954T>A (p.Met1985Lys)
c.5951T>A (p.Met1984Lys)
 ClinVar
2g.71679084T>CCA347226267DYSFc.3326T>C (p.Met1109Thr)
c.2543T>C (p.Met848Thr)
c.2651T>C (p.Met884Thr)
c.5795T>C (p.Met1932Thr)
c.5912T>C (p.Met1971Thr)
c.5798T>C (p.Met1933Thr)
c.5861T>C (p.Met1954Thr)
c.5909T>C (p.Met1970Thr)
c.5891T>C (p.Met1964Thr)
c.5819T>C (p.Met1940Thr)
c.5846T>C (p.Met1949Thr)
c.5849T>C (p.Met1950Thr)
c.5888T>C (p.Met1963Thr)
c.5858T>C (p.Met1953Thr)
n.2680T>C
c.5753T>C (p.Met1918Thr)
c.5816T>C (p.Met1939Thr)
c.5756T>C (p.Met1919Thr)
c.5954T>C (p.Met1985Thr)
c.5951T>C (p.Met1984Thr)
2g.71679084T>GCA347226268DYSFc.3326T>G (p.Met1109Arg)
c.2543T>G (p.Met848Arg)
c.2651T>G (p.Met884Arg)
c.5795T>G (p.Met1932Arg)
c.5912T>G (p.Met1971Arg)
c.5798T>G (p.Met1933Arg)
c.5861T>G (p.Met1954Arg)
c.5909T>G (p.Met1970Arg)
c.5891T>G (p.Met1964Arg)
c.5819T>G (p.Met1940Arg)
c.5846T>G (p.Met1949Arg)
c.5849T>G (p.Met1950Arg)
c.5888T>G (p.Met1963Arg)
c.5858T>G (p.Met1953Arg)
n.2680T>G
c.5753T>G (p.Met1918Arg)
c.5816T>G (p.Met1939Arg)
c.5756T>G (p.Met1919Arg)
c.5954T>G (p.Met1985Arg)
c.5951T>G (p.Met1984Arg)
2g.71679085G>ACA347226270DYSFc.3327G>A (p.Met1109Ile)
c.2544G>A (p.Met848Ile)
c.2652G>A (p.Met884Ile)
c.5796G>A (p.Met1932Ile)
c.5913G>A (p.Met1971Ile)
c.5799G>A (p.Met1933Ile)
c.5862G>A (p.Met1954Ile)
c.5910G>A (p.Met1970Ile)
c.5892G>A (p.Met1964Ile)
c.5820G>A (p.Met1940Ile)
c.5847G>A (p.Met1949Ile)
c.5850G>A (p.Met1950Ile)
c.5889G>A (p.Met1963Ile)
c.5859G>A (p.Met1953Ile)
n.2681G>A
c.5754G>A (p.Met1918Ile)
c.5817G>A (p.Met1939Ile)
c.5757G>A (p.Met1919Ile)
c.5955G>A (p.Met1985Ile)
c.5952G>A (p.Met1984Ile)
 dbSNP gnomAD v4
2g.71679085G>CCA347226271DYSFc.3327G>C (p.Met1109Ile)
c.2544G>C (p.Met848Ile)
c.2652G>C (p.Met884Ile)
c.5796G>C (p.Met1932Ile)
c.5913G>C (p.Met1971Ile)
c.5799G>C (p.Met1933Ile)
c.5862G>C (p.Met1954Ile)
c.5910G>C (p.Met1970Ile)
c.5892G>C (p.Met1964Ile)
c.5820G>C (p.Met1940Ile)
c.5847G>C (p.Met1949Ile)
c.5850G>C (p.Met1950Ile)
c.5889G>C (p.Met1963Ile)
c.5859G>C (p.Met1953Ile)
n.2681G>C
c.5754G>C (p.Met1918Ile)
c.5817G>C (p.Met1939Ile)
c.5757G>C (p.Met1919Ile)
c.5955G>C (p.Met1985Ile)
c.5952G>C (p.Met1984Ile)
2g.71679085G=CA1260156831DYSFc.3327G= (p.Met1109=)
c.2544G= (p.Met848=)
c.2652G= (p.Met884=)
c.5796G= (p.Met1932=)
c.5913G= (p.Met1971=)
c.5799G= (p.Met1933=)
c.5862G= (p.Met1954=)
c.5910G= (p.Met1970=)
c.5892G= (p.Met1964=)
c.5820G= (p.Met1940=)
c.5847G= (p.Met1949=)
c.5850G= (p.Met1950=)
c.5889G= (p.Met1963=)
c.5859G= (p.Met1953=)
n.2681G=
c.5754G= (p.Met1918=)
c.5817G= (p.Met1939=)
c.5757G= (p.Met1919=)
c.5955G= (p.Met1985=)
c.5952G= (p.Met1984=)
2g.71679085G>TCA347226269DYSFc.3327G>T (p.Met1109Ile)
c.2544G>T (p.Met848Ile)
c.2652G>T (p.Met884Ile)
c.5796G>T (p.Met1932Ile)
c.5913G>T (p.Met1971Ile)
c.5799G>T (p.Met1933Ile)
c.5862G>T (p.Met1954Ile)
c.5910G>T (p.Met1970Ile)
c.5892G>T (p.Met1964Ile)
c.5820G>T (p.Met1940Ile)
c.5847G>T (p.Met1949Ile)
c.5850G>T (p.Met1950Ile)
c.5889G>T (p.Met1963Ile)
c.5859G>T (p.Met1953Ile)
n.2681G>T
c.5754G>T (p.Met1918Ile)
c.5817G>T (p.Met1939Ile)
c.5757G>T (p.Met1919Ile)
c.5955G>T (p.Met1985Ile)
c.5952G>T (p.Met1984Ile)
2g.71679086C>ACA347226272DYSFc.3328C>A (p.Pro1110Thr)
c.2545C>A (p.Pro849Thr)
c.2653C>A (p.Pro885Thr)
c.5797C>A (p.Pro1933Thr)
c.5914C>A (p.Pro1972Thr)
c.5800C>A (p.Pro1934Thr)
c.5863C>A (p.Pro1955Thr)
c.5911C>A (p.Pro1971Thr)
c.5893C>A (p.Pro1965Thr)
c.5821C>A (p.Pro1941Thr)
c.5848C>A (p.Pro1950Thr)
c.5851C>A (p.Pro1951Thr)
c.5890C>A (p.Pro1964Thr)
c.5860C>A (p.Pro1954Thr)
n.2682C>A
c.5755C>A (p.Pro1919Thr)
c.5818C>A (p.Pro1940Thr)
c.5758C>A (p.Pro1920Thr)
c.5956C>A (p.Pro1986Thr)
c.5953C>A (p.Pro1985Thr)
2g.71679086C=CA1260156833DYSFc.3328C= (p.Pro1110=)
c.2545C= (p.Pro849=)
c.2653C= (p.Pro885=)
c.5797C= (p.Pro1933=)
c.5914C= (p.Pro1972=)
c.5800C= (p.Pro1934=)
c.5863C= (p.Pro1955=)
c.5911C= (p.Pro1971=)
c.5893C= (p.Pro1965=)
c.5821C= (p.Pro1941=)
c.5848C= (p.Pro1950=)
c.5851C= (p.Pro1951=)
c.5890C= (p.Pro1964=)
c.5860C= (p.Pro1954=)
n.2682C=
c.5755C= (p.Pro1919=)
c.5818C= (p.Pro1940=)
c.5758C= (p.Pro1920=)
c.5956C= (p.Pro1986=)
c.5953C= (p.Pro1985=)
2g.71679086C>GCA1707550DYSFc.3328C>G (p.Pro1110Ala)
c.2545C>G (p.Pro849Ala)
c.2653C>G (p.Pro885Ala)
c.5797C>G (p.Pro1933Ala)
c.5914C>G (p.Pro1972Ala)
c.5800C>G (p.Pro1934Ala)
c.5863C>G (p.Pro1955Ala)
c.5911C>G (p.Pro1971Ala)
c.5893C>G (p.Pro1965Ala)
c.5821C>G (p.Pro1941Ala)
c.5848C>G (p.Pro1950Ala)
c.5851C>G (p.Pro1951Ala)
c.5890C>G (p.Pro1964Ala)
c.5860C>G (p.Pro1954Ala)
n.2682C>G
c.5755C>G (p.Pro1919Ala)
c.5818C>G (p.Pro1940Ala)
c.5758C>G (p.Pro1920Ala)
c.5956C>G (p.Pro1986Ala)
c.5953C>G (p.Pro1985Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71679086C>TCA347226273DYSFc.3328C>T (p.Pro1110Ser)
c.2545C>T (p.Pro849Ser)
c.2653C>T (p.Pro885Ser)
c.5797C>T (p.Pro1933Ser)
c.5914C>T (p.Pro1972Ser)
c.5800C>T (p.Pro1934Ser)
c.5863C>T (p.Pro1955Ser)
c.5911C>T (p.Pro1971Ser)
c.5893C>T (p.Pro1965Ser)
c.5821C>T (p.Pro1941Ser)
c.5848C>T (p.Pro1950Ser)
c.5851C>T (p.Pro1951Ser)
c.5890C>T (p.Pro1964Ser)
c.5860C>T (p.Pro1954Ser)
n.2682C>T
c.5755C>T (p.Pro1919Ser)
c.5818C>T (p.Pro1940Ser)
c.5758C>T (p.Pro1920Ser)
c.5956C>T (p.Pro1986Ser)
c.5953C>T (p.Pro1985Ser)
2g.71679086_71679095delinsCCCAAGCCAGCA1260156832DYSFc.3328_3337delinsCCCAAGCCAG (p.Pro1110=)
c.2545_2554delinsCCCAAGCCAG (p.Pro849=)
c.2653_2662delinsCCCAAGCCAG (p.Pro885=)
c.5797_5806delinsCCCAAGCCAG (p.Pro1933=)
c.5914_5923delinsCCCAAGCCAG (p.Pro1972=)
c.5800_5809delinsCCCAAGCCAG (p.Pro1934=)
c.5863_5872delinsCCCAAGCCAG (p.Pro1955=)
c.5911_5920delinsCCCAAGCCAG (p.Pro1971=)
c.5893_5902delinsCCCAAGCCAG (p.Pro1965=)
c.5821_5830delinsCCCAAGCCAG (p.Pro1941=)
c.5848_5857delinsCCCAAGCCAG (p.Pro1950=)
c.5851_5860delinsCCCAAGCCAG (p.Pro1951=)
c.5890_5899delinsCCCAAGCCAG (p.Pro1964=)
c.5860_5869delinsCCCAAGCCAG (p.Pro1954=)
n.2682_2691delinsCCCAAGCCAG
c.5755_5764delinsCCCAAGCCAG (p.Pro1919=)
c.5818_5827delinsCCCAAGCCAG (p.Pro1940=)
c.5758_5767delinsCCCAAGCCAG (p.Pro1920=)
c.5956_5965delinsCCCAAGCCAG (p.Pro1986=)
c.5953_5962delinsCCCAAGCCAG (p.Pro1985=)
2g.71679087C>ACA347226274DYSFc.3329C>A (p.Pro1110His)
c.2546C>A (p.Pro849His)
c.2654C>A (p.Pro885His)
c.5798C>A (p.Pro1933His)
c.5915C>A (p.Pro1972His)
c.5801C>A (p.Pro1934His)
c.5864C>A (p.Pro1955His)
c.5912C>A (p.Pro1971His)
c.5894C>A (p.Pro1965His)
c.5822C>A (p.Pro1941His)
c.5849C>A (p.Pro1950His)
c.5852C>A (p.Pro1951His)
c.5891C>A (p.Pro1964His)
c.5861C>A (p.Pro1954His)
n.2683C>A
c.5756C>A (p.Pro1919His)
c.5819C>A (p.Pro1940His)
c.5759C>A (p.Pro1920His)
c.5957C>A (p.Pro1986His)
c.5954C>A (p.Pro1985His)
2g.71679087C=CA1260156835DYSFc.3329C= (p.Pro1110=)
c.2546C= (p.Pro849=)
c.2654C= (p.Pro885=)
c.5798C= (p.Pro1933=)
c.5915C= (p.Pro1972=)
c.5801C= (p.Pro1934=)
c.5864C= (p.Pro1955=)
c.5912C= (p.Pro1971=)
c.5894C= (p.Pro1965=)
c.5822C= (p.Pro1941=)
c.5849C= (p.Pro1950=)
c.5852C= (p.Pro1951=)
c.5891C= (p.Pro1964=)
c.5861C= (p.Pro1954=)
n.2683C=
c.5756C= (p.Pro1919=)
c.5819C= (p.Pro1940=)
c.5759C= (p.Pro1920=)
c.5957C= (p.Pro1986=)
c.5954C= (p.Pro1985=)
2g.71679087C>GCA347226275DYSFc.3329C>G (p.Pro1110Arg)
c.2546C>G (p.Pro849Arg)
c.2654C>G (p.Pro885Arg)
c.5798C>G (p.Pro1933Arg)
c.5915C>G (p.Pro1972Arg)
c.5801C>G (p.Pro1934Arg)
c.5864C>G (p.Pro1955Arg)
c.5912C>G (p.Pro1971Arg)
c.5894C>G (p.Pro1965Arg)
c.5822C>G (p.Pro1941Arg)
c.5849C>G (p.Pro1950Arg)
c.5852C>G (p.Pro1951Arg)
c.5891C>G (p.Pro1964Arg)
c.5861C>G (p.Pro1954Arg)
n.2683C>G
c.5756C>G (p.Pro1919Arg)
c.5819C>G (p.Pro1940Arg)
c.5759C>G (p.Pro1920Arg)
c.5957C>G (p.Pro1986Arg)
c.5954C>G (p.Pro1985Arg)
 dbSNP
2g.71679087C>TCA49774318DYSFc.3329C>T (p.Pro1110Leu)
c.2546C>T (p.Pro849Leu)
c.2654C>T (p.Pro885Leu)
c.5798C>T (p.Pro1933Leu)
c.5915C>T (p.Pro1972Leu)
c.5801C>T (p.Pro1934Leu)
c.5864C>T (p.Pro1955Leu)
c.5912C>T (p.Pro1971Leu)
c.5894C>T (p.Pro1965Leu)
c.5822C>T (p.Pro1941Leu)
c.5849C>T (p.Pro1950Leu)
c.5852C>T (p.Pro1951Leu)
c.5891C>T (p.Pro1964Leu)
c.5861C>T (p.Pro1954Leu)
n.2683C>T
c.5756C>T (p.Pro1919Leu)
c.5819C>T (p.Pro1940Leu)
c.5759C>T (p.Pro1920Leu)
c.5957C>T (p.Pro1986Leu)
c.5954C>T (p.Pro1985Leu)
 dbSNP
2g.71679092_71679100delCA1260156834DYSFc.3334_3342del (p.Pro1112_Lys1114del)
c.2551_2559del (p.Pro851_Lys853del)
c.2659_2667del (p.Pro887_Lys889del)
c.5803_5811del (p.Pro1935_Lys1937del)
c.5920_5928del (p.Pro1974_Lys1976del)
c.5806_5814del (p.Pro1936_Lys1938del)
c.5869_5877del (p.Pro1957_Lys1959del)
c.5917_5925del (p.Pro1973_Lys1975del)
c.5899_5907del (p.Pro1967_Lys1969del)
c.5827_5835del (p.Pro1943_Lys1945del)
c.5854_5862del (p.Pro1952_Lys1954del)
c.5857_5865del (p.Pro1953_Lys1955del)
c.5896_5904del (p.Pro1966_Lys1968del)
c.5866_5874del (p.Pro1956_Lys1958del)
n.2688_2696del
c.5761_5769del (p.Pro1921_Lys1923del)
c.5824_5832del (p.Pro1942_Lys1944del)
c.5764_5772del (p.Pro1922_Lys1924del)
c.5962_5970del (p.Pro1988_Lys1990del)
c.5959_5967del (p.Pro1987_Lys1989del)
 dbSNP gnomAD v4
2g.71679088C>ACA426704679DYSFc.3330C>A (p.Pro1110=)
c.2547C>A (p.Pro849=)
c.2655C>A (p.Pro885=)
c.5799C>A (p.Pro1933=)
c.5916C>A (p.Pro1972=)
c.5802C>A (p.Pro1934=)
c.5865C>A (p.Pro1955=)
c.5913C>A (p.Pro1971=)
c.5895C>A (p.Pro1965=)
c.5823C>A (p.Pro1941=)
c.5850C>A (p.Pro1950=)
c.5853C>A (p.Pro1951=)
c.5892C>A (p.Pro1964=)
c.5862C>A (p.Pro1954=)
n.2684C>A
c.5757C>A (p.Pro1919=)
c.5820C>A (p.Pro1940=)
c.5760C>A (p.Pro1920=)
c.5958C>A (p.Pro1986=)
c.5955C>A (p.Pro1985=)
2g.71679088C=CA1260156836DYSFc.3330C= (p.Pro1110=)
c.2547C= (p.Pro849=)
c.2655C= (p.Pro885=)
c.5799C= (p.Pro1933=)
c.5916C= (p.Pro1972=)
c.5802C= (p.Pro1934=)
c.5865C= (p.Pro1955=)
c.5913C= (p.Pro1971=)
c.5895C= (p.Pro1965=)
c.5823C= (p.Pro1941=)
c.5850C= (p.Pro1950=)
c.5853C= (p.Pro1951=)
c.5892C= (p.Pro1964=)
c.5862C= (p.Pro1954=)
n.2684C=
c.5757C= (p.Pro1919=)
c.5820C= (p.Pro1940=)
c.5760C= (p.Pro1920=)
c.5958C= (p.Pro1986=)
c.5955C= (p.Pro1985=)
2g.71679088C>GCA1707551DYSFc.3330C>G (p.Pro1110=)
c.2547C>G (p.Pro849=)
c.2655C>G (p.Pro885=)
c.5799C>G (p.Pro1933=)
c.5916C>G (p.Pro1972=)
c.5802C>G (p.Pro1934=)
c.5865C>G (p.Pro1955=)
c.5913C>G (p.Pro1971=)
c.5895C>G (p.Pro1965=)
c.5823C>G (p.Pro1941=)
c.5850C>G (p.Pro1950=)
c.5853C>G (p.Pro1951=)
c.5892C>G (p.Pro1964=)
c.5862C>G (p.Pro1954=)
n.2684C>G
c.5757C>G (p.Pro1919=)
c.5820C>G (p.Pro1940=)
c.5760C>G (p.Pro1920=)
c.5958C>G (p.Pro1986=)
c.5955C>G (p.Pro1985=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71679088C>TCA426704681DYSFc.3330C>T (p.Pro1110=)
c.2547C>T (p.Pro849=)
c.2655C>T (p.Pro885=)
c.5799C>T (p.Pro1933=)
c.5916C>T (p.Pro1972=)
c.5802C>T (p.Pro1934=)
c.5865C>T (p.Pro1955=)
c.5913C>T (p.Pro1971=)
c.5895C>T (p.Pro1965=)
c.5823C>T (p.Pro1941=)
c.5850C>T (p.Pro1950=)
c.5853C>T (p.Pro1951=)
c.5892C>T (p.Pro1964=)
c.5862C>T (p.Pro1954=)
n.2684C>T
c.5757C>T (p.Pro1919=)
c.5820C>T (p.Pro1940=)
c.5760C>T (p.Pro1920=)
c.5958C>T (p.Pro1986=)
c.5955C>T (p.Pro1985=)
2g.71679089A=CA1260156837DYSFc.3331A= (p.Lys1111=)
c.2548A= (p.Lys850=)
c.2656A= (p.Lys886=)
c.5800A= (p.Lys1934=)
c.5917A= (p.Lys1973=)
c.5803A= (p.Lys1935=)
c.5866A= (p.Lys1956=)
c.5914A= (p.Lys1972=)
c.5896A= (p.Lys1966=)
c.5824A= (p.Lys1942=)
c.5851A= (p.Lys1951=)
c.5854A= (p.Lys1952=)
c.5893A= (p.Lys1965=)
c.5863A= (p.Lys1955=)
n.2685A=
c.5758A= (p.Lys1920=)
c.5821A= (p.Lys1941=)
c.5761A= (p.Lys1921=)
c.5959A= (p.Lys1987=)
c.5956A= (p.Lys1986=)
2g.71679089A>CCA347226276DYSFc.3331A>C (p.Lys1111Gln)
c.2548A>C (p.Lys850Gln)
c.2656A>C (p.Lys886Gln)
c.5800A>C (p.Lys1934Gln)
c.5917A>C (p.Lys1973Gln)
c.5803A>C (p.Lys1935Gln)
c.5866A>C (p.Lys1956Gln)
c.5914A>C (p.Lys1972Gln)
c.5896A>C (p.Lys1966Gln)
c.5824A>C (p.Lys1942Gln)
c.5851A>C (p.Lys1951Gln)
c.5854A>C (p.Lys1952Gln)
c.5893A>C (p.Lys1965Gln)
c.5863A>C (p.Lys1955Gln)
n.2685A>C
c.5758A>C (p.Lys1920Gln)
c.5821A>C (p.Lys1941Gln)
c.5761A>C (p.Lys1921Gln)
c.5959A>C (p.Lys1987Gln)
c.5956A>C (p.Lys1986Gln)
2g.71679089A>GCA347226277DYSFc.3331A>G (p.Lys1111Glu)
c.2548A>G (p.Lys850Glu)
c.2656A>G (p.Lys886Glu)
c.5800A>G (p.Lys1934Glu)
c.5917A>G (p.Lys1973Glu)
c.5803A>G (p.Lys1935Glu)
c.5866A>G (p.Lys1956Glu)
c.5914A>G (p.Lys1972Glu)
c.5896A>G (p.Lys1966Glu)
c.5824A>G (p.Lys1942Glu)
c.5851A>G (p.Lys1951Glu)
c.5854A>G (p.Lys1952Glu)
c.5893A>G (p.Lys1965Glu)
c.5863A>G (p.Lys1955Glu)
n.2685A>G
c.5758A>G (p.Lys1920Glu)
c.5821A>G (p.Lys1941Glu)
c.5761A>G (p.Lys1921Glu)
c.5959A>G (p.Lys1987Glu)
c.5956A>G (p.Lys1986Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.71679089A>TCA347226278DYSFc.3331A>T (p.Lys1111Ter)
c.2548A>T (p.Lys850Ter)
c.2656A>T (p.Lys886Ter)
c.5800A>T (p.Lys1934Ter)
c.5917A>T (p.Lys1973Ter)
c.5803A>T (p.Lys1935Ter)
c.5866A>T (p.Lys1956Ter)
c.5914A>T (p.Lys1972Ter)
c.5896A>T (p.Lys1966Ter)
c.5824A>T (p.Lys1942Ter)
c.5851A>T (p.Lys1951Ter)
c.5854A>T (p.Lys1952Ter)
c.5893A>T (p.Lys1965Ter)
c.5863A>T (p.Lys1955Ter)
n.2685A>T
c.5758A>T (p.Lys1920Ter)
c.5821A>T (p.Lys1941Ter)
c.5761A>T (p.Lys1921Ter)
c.5959A>T (p.Lys1987Ter)
c.5956A>T (p.Lys1986Ter)
 dbSNP
2g.71679090A>CCA347226279DYSFc.3332A>C (p.Lys1111Thr)
c.2549A>C (p.Lys850Thr)
c.2657A>C (p.Lys886Thr)
c.5801A>C (p.Lys1934Thr)
c.5918A>C (p.Lys1973Thr)
c.5804A>C (p.Lys1935Thr)
c.5867A>C (p.Lys1956Thr)
c.5915A>C (p.Lys1972Thr)
c.5897A>C (p.Lys1966Thr)
c.5825A>C (p.Lys1942Thr)
c.5852A>C (p.Lys1951Thr)
c.5855A>C (p.Lys1952Thr)
c.5894A>C (p.Lys1965Thr)
c.5864A>C (p.Lys1955Thr)
n.2686A>C
c.5759A>C (p.Lys1920Thr)
c.5822A>C (p.Lys1941Thr)
c.5762A>C (p.Lys1921Thr)
c.5960A>C (p.Lys1987Thr)
c.5957A>C (p.Lys1986Thr)
2g.71679090A>GCA347226280DYSFc.3332A>G (p.Lys1111Arg)
c.2549A>G (p.Lys850Arg)
c.2657A>G (p.Lys886Arg)
c.5801A>G (p.Lys1934Arg)
c.5918A>G (p.Lys1973Arg)
c.5804A>G (p.Lys1935Arg)
c.5867A>G (p.Lys1956Arg)
c.5915A>G (p.Lys1972Arg)
c.5897A>G (p.Lys1966Arg)
c.5825A>G (p.Lys1942Arg)
c.5852A>G (p.Lys1951Arg)
c.5855A>G (p.Lys1952Arg)
c.5894A>G (p.Lys1965Arg)
c.5864A>G (p.Lys1955Arg)
n.2686A>G
c.5759A>G (p.Lys1920Arg)
c.5822A>G (p.Lys1941Arg)
c.5762A>G (p.Lys1921Arg)
c.5960A>G (p.Lys1987Arg)
c.5957A>G (p.Lys1986Arg)
2g.71679090A>TCA347226281DYSFc.3332A>T (p.Lys1111Met)
c.2549A>T (p.Lys850Met)
c.2657A>T (p.Lys886Met)
c.5801A>T (p.Lys1934Met)
c.5918A>T (p.Lys1973Met)
c.5804A>T (p.Lys1935Met)
c.5867A>T (p.Lys1956Met)
c.5915A>T (p.Lys1972Met)
c.5897A>T (p.Lys1966Met)
c.5825A>T (p.Lys1942Met)
c.5852A>T (p.Lys1951Met)
c.5855A>T (p.Lys1952Met)
c.5894A>T (p.Lys1965Met)
c.5864A>T (p.Lys1955Met)
n.2686A>T
c.5759A>T (p.Lys1920Met)
c.5822A>T (p.Lys1941Met)
c.5762A>T (p.Lys1921Met)
c.5960A>T (p.Lys1987Met)
c.5957A>T (p.Lys1986Met)
2g.71679091G>ACA426704682DYSFc.3333G>A (p.Lys1111=)
c.2550G>A (p.Lys850=)
c.2658G>A (p.Lys886=)
c.5802G>A (p.Lys1934=)
c.5919G>A (p.Lys1973=)
c.5805G>A (p.Lys1935=)
c.5868G>A (p.Lys1956=)
c.5916G>A (p.Lys1972=)
c.5898G>A (p.Lys1966=)
c.5826G>A (p.Lys1942=)
c.5853G>A (p.Lys1951=)
c.5856G>A (p.Lys1952=)
c.5895G>A (p.Lys1965=)
c.5865G>A (p.Lys1955=)
n.2687G>A
c.5760G>A (p.Lys1920=)
c.5823G>A (p.Lys1941=)
c.5763G>A (p.Lys1921=)
c.5961G>A (p.Lys1987=)
c.5958G>A (p.Lys1986=)
2g.71679091G>CCA49774324DYSFc.3333G>C (p.Lys1111Asn)
c.2550G>C (p.Lys850Asn)
c.2658G>C (p.Lys886Asn)
c.5802G>C (p.Lys1934Asn)
c.5919G>C (p.Lys1973Asn)
c.5805G>C (p.Lys1935Asn)
c.5868G>C (p.Lys1956Asn)
c.5916G>C (p.Lys1972Asn)
c.5898G>C (p.Lys1966Asn)
c.5826G>C (p.Lys1942Asn)
c.5853G>C (p.Lys1951Asn)
c.5856G>C (p.Lys1952Asn)
c.5895G>C (p.Lys1965Asn)
c.5865G>C (p.Lys1955Asn)
n.2687G>C
c.5760G>C (p.Lys1920Asn)
c.5823G>C (p.Lys1941Asn)
c.5763G>C (p.Lys1921Asn)
c.5961G>C (p.Lys1987Asn)
c.5958G>C (p.Lys1986Asn)
 dbSNP
2g.71679091G=CA1260156838DYSFc.3333G= (p.Lys1111=)
c.2550G= (p.Lys850=)
c.2658G= (p.Lys886=)
c.5802G= (p.Lys1934=)
c.5919G= (p.Lys1973=)
c.5805G= (p.Lys1935=)
c.5868G= (p.Lys1956=)
c.5916G= (p.Lys1972=)
c.5898G= (p.Lys1966=)
c.5826G= (p.Lys1942=)
c.5853G= (p.Lys1951=)
c.5856G= (p.Lys1952=)
c.5895G= (p.Lys1965=)
c.5865G= (p.Lys1955=)
n.2687G=
c.5760G= (p.Lys1920=)
c.5823G= (p.Lys1941=)
c.5763G= (p.Lys1921=)
c.5961G= (p.Lys1987=)
c.5958G= (p.Lys1986=)
2g.71679091G>TCA347226282DYSFc.3333G>T (p.Lys1111Asn)
c.2550G>T (p.Lys850Asn)
c.2658G>T (p.Lys886Asn)
c.5802G>T (p.Lys1934Asn)
c.5919G>T (p.Lys1973Asn)
c.5805G>T (p.Lys1935Asn)
c.5868G>T (p.Lys1956Asn)
c.5916G>T (p.Lys1972Asn)
c.5898G>T (p.Lys1966Asn)
c.5826G>T (p.Lys1942Asn)
c.5853G>T (p.Lys1951Asn)
c.5856G>T (p.Lys1952Asn)
c.5895G>T (p.Lys1965Asn)
c.5865G>T (p.Lys1955Asn)
n.2687G>T
c.5760G>T (p.Lys1920Asn)
c.5823G>T (p.Lys1941Asn)
c.5763G>T (p.Lys1921Asn)
c.5961G>T (p.Lys1987Asn)
c.5958G>T (p.Lys1986Asn)
2g.71679092C>ACA347226283DYSFc.3334C>A (p.Pro1112Thr)
c.2551C>A (p.Pro851Thr)
c.2659C>A (p.Pro887Thr)
c.5803C>A (p.Pro1935Thr)
c.5920C>A (p.Pro1974Thr)
c.5806C>A (p.Pro1936Thr)
c.5869C>A (p.Pro1957Thr)
c.5917C>A (p.Pro1973Thr)
c.5899C>A (p.Pro1967Thr)
c.5827C>A (p.Pro1943Thr)
c.5854C>A (p.Pro1952Thr)
c.5857C>A (p.Pro1953Thr)
c.5896C>A (p.Pro1966Thr)
c.5866C>A (p.Pro1956Thr)
n.2688C>A
c.5761C>A (p.Pro1921Thr)
c.5824C>A (p.Pro1942Thr)
c.5764C>A (p.Pro1922Thr)
c.5962C>A (p.Pro1988Thr)
c.5959C>A (p.Pro1987Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.71679092C=CA1260156839DYSFc.3334C= (p.Pro1112=)
c.2551C= (p.Pro851=)
c.2659C= (p.Pro887=)
c.5803C= (p.Pro1935=)
c.5920C= (p.Pro1974=)
c.5806C= (p.Pro1936=)
c.5869C= (p.Pro1957=)
c.5917C= (p.Pro1973=)
c.5899C= (p.Pro1967=)
c.5827C= (p.Pro1943=)
c.5854C= (p.Pro1952=)
c.5857C= (p.Pro1953=)
c.5896C= (p.Pro1966=)
c.5866C= (p.Pro1956=)
n.2688C=
c.5761C= (p.Pro1921=)
c.5824C= (p.Pro1942=)
c.5764C= (p.Pro1922=)
c.5962C= (p.Pro1988=)
c.5959C= (p.Pro1987=)
2g.71679092C>GCA347226284DYSFc.3334C>G (p.Pro1112Ala)
c.2551C>G (p.Pro851Ala)
c.2659C>G (p.Pro887Ala)
c.5803C>G (p.Pro1935Ala)
c.5920C>G (p.Pro1974Ala)
c.5806C>G (p.Pro1936Ala)
c.5869C>G (p.Pro1957Ala)
c.5917C>G (p.Pro1973Ala)
c.5899C>G (p.Pro1967Ala)
c.5827C>G (p.Pro1943Ala)
c.5854C>G (p.Pro1952Ala)
c.5857C>G (p.Pro1953Ala)
c.5896C>G (p.Pro1966Ala)
c.5866C>G (p.Pro1956Ala)
n.2688C>G
c.5761C>G (p.Pro1921Ala)
c.5824C>G (p.Pro1942Ala)
c.5764C>G (p.Pro1922Ala)
c.5962C>G (p.Pro1988Ala)
c.5959C>G (p.Pro1987Ala)
2g.71679092C>TCA347226285DYSFc.3334C>T (p.Pro1112Ser)
c.2551C>T (p.Pro851Ser)
c.2659C>T (p.Pro887Ser)
c.5803C>T (p.Pro1935Ser)
c.5920C>T (p.Pro1974Ser)
c.5806C>T (p.Pro1936Ser)
c.5869C>T (p.Pro1957Ser)
c.5917C>T (p.Pro1973Ser)
c.5899C>T (p.Pro1967Ser)
c.5827C>T (p.Pro1943Ser)
c.5854C>T (p.Pro1952Ser)
c.5857C>T (p.Pro1953Ser)
c.5896C>T (p.Pro1966Ser)
c.5866C>T (p.Pro1956Ser)
n.2688C>T
c.5761C>T (p.Pro1921Ser)
c.5824C>T (p.Pro1942Ser)
c.5764C>T (p.Pro1922Ser)
c.5962C>T (p.Pro1988Ser)
c.5959C>T (p.Pro1987Ser)
 gnomAD v4
2g.71679093C>ACA347226286DYSFc.3335C>A (p.Pro1112Gln)
c.2552C>A (p.Pro851Gln)
c.2660C>A (p.Pro887Gln)
c.5804C>A (p.Pro1935Gln)
c.5921C>A (p.Pro1974Gln)
c.5807C>A (p.Pro1936Gln)
c.5870C>A (p.Pro1957Gln)
c.5918C>A (p.Pro1973Gln)
c.5900C>A (p.Pro1967Gln)
c.5828C>A (p.Pro1943Gln)
c.5855C>A (p.Pro1952Gln)
c.5858C>A (p.Pro1953Gln)
c.5897C>A (p.Pro1966Gln)
c.5867C>A (p.Pro1956Gln)
n.2689C>A
c.5762C>A (p.Pro1921Gln)
c.5825C>A (p.Pro1942Gln)
c.5765C>A (p.Pro1922Gln)
c.5963C>A (p.Pro1988Gln)
c.5960C>A (p.Pro1987Gln)
2g.71679093C=CA1260156840DYSFc.3335C= (p.Pro1112=)
c.2552C= (p.Pro851=)
c.2660C= (p.Pro887=)
c.5804C= (p.Pro1935=)
c.5921C= (p.Pro1974=)
c.5807C= (p.Pro1936=)
c.5870C= (p.Pro1957=)
c.5918C= (p.Pro1973=)
c.5900C= (p.Pro1967=)
c.5828C= (p.Pro1943=)
c.5855C= (p.Pro1952=)
c.5858C= (p.Pro1953=)
c.5897C= (p.Pro1966=)
c.5867C= (p.Pro1956=)
n.2689C=
c.5762C= (p.Pro1921=)
c.5825C= (p.Pro1942=)
c.5765C= (p.Pro1922=)
c.5963C= (p.Pro1988=)
c.5960C= (p.Pro1987=)
2g.71679093C>GCA347226287DYSFc.3335C>G (p.Pro1112Arg)
c.2552C>G (p.Pro851Arg)
c.2660C>G (p.Pro887Arg)
c.5804C>G (p.Pro1935Arg)
c.5921C>G (p.Pro1974Arg)
c.5807C>G (p.Pro1936Arg)
c.5870C>G (p.Pro1957Arg)
c.5918C>G (p.Pro1973Arg)
c.5900C>G (p.Pro1967Arg)
c.5828C>G (p.Pro1943Arg)
c.5855C>G (p.Pro1952Arg)
c.5858C>G (p.Pro1953Arg)
c.5897C>G (p.Pro1966Arg)
c.5867C>G (p.Pro1956Arg)
n.2689C>G
c.5762C>G (p.Pro1921Arg)
c.5825C>G (p.Pro1942Arg)
c.5765C>G (p.Pro1922Arg)
c.5963C>G (p.Pro1988Arg)
c.5960C>G (p.Pro1987Arg)
2g.71679093C>TCA347226288DYSFc.3335C>T (p.Pro1112Leu)
c.2552C>T (p.Pro851Leu)
c.2660C>T (p.Pro887Leu)
c.5804C>T (p.Pro1935Leu)
c.5921C>T (p.Pro1974Leu)
c.5807C>T (p.Pro1936Leu)
c.5870C>T (p.Pro1957Leu)
c.5918C>T (p.Pro1973Leu)
c.5900C>T (p.Pro1967Leu)
c.5828C>T (p.Pro1943Leu)
c.5855C>T (p.Pro1952Leu)
c.5858C>T (p.Pro1953Leu)
c.5897C>T (p.Pro1966Leu)
c.5867C>T (p.Pro1956Leu)
n.2689C>T
c.5762C>T (p.Pro1921Leu)
c.5825C>T (p.Pro1942Leu)
c.5765C>T (p.Pro1922Leu)
c.5963C>T (p.Pro1988Leu)
c.5960C>T (p.Pro1987Leu)
 ClinVar dbSNP
2g.71679102_71679110dupCA2580611655DYSFc.3344_3352dup (p.Lys1117_Lys1118insThrAlaLys)
c.2561_2569dup (p.Lys856_Lys857insThrAlaLys)
c.2669_2677dup (p.Lys892_Lys893insThrAlaLys)
c.5813_5821dup (p.Lys1940_Lys1941insThrAlaLys)
c.5930_5938dup (p.Lys1979_Lys1980insThrAlaLys)
c.5816_5824dup (p.Lys1941_Lys1942insThrAlaLys)
c.5879_5887dup (p.Lys1962_Lys1963insThrAlaLys)
c.5927_5935dup (p.Lys1978_Lys1979insThrAlaLys)
c.5909_5917dup (p.Lys1972_Lys1973insThrAlaLys)
c.5837_5845dup (p.Lys1948_Lys1949insThrAlaLys)
c.5864_5872dup (p.Lys1957_Lys1958insThrAlaLys)
c.5867_5875dup (p.Lys1958_Lys1959insThrAlaLys)
c.5906_5914dup (p.Lys1971_Lys1972insThrAlaLys)
c.5876_5884dup (p.Lys1961_Lys1962insThrAlaLys)
n.2698_2706dup
c.5771_5779dup (p.Lys1926_Lys1927insThrAlaLys)
c.5834_5842dup (p.Lys1947_Lys1948insThrAlaLys)
c.5774_5782dup (p.Lys1927_Lys1928insThrAlaLys)
c.5972_5980dup (p.Lys1993_Lys1994insThrAlaLys)
c.5969_5977dup (p.Lys1992_Lys1993insThrAlaLys)
 ClinVar dbSNP
2g.71679102_71679110delCA1139532924DYSFc.3344_3352del (p.Thr1115_Lys1117del)
c.2561_2569del (p.Thr854_Lys856del)
c.2669_2677del (p.Thr890_Lys892del)
c.5813_5821del (p.Thr1938_Lys1940del)
c.5930_5938del (p.Thr1977_Lys1979del)
c.5816_5824del (p.Thr1939_Lys1941del)
c.5879_5887del (p.Thr1960_Lys1962del)
c.5927_5935del (p.Thr1976_Lys1978del)
c.5909_5917del (p.Thr1970_Lys1972del)
c.5837_5845del (p.Thr1946_Lys1948del)
c.5864_5872del (p.Thr1955_Lys1957del)
c.5867_5875del (p.Thr1956_Lys1958del)
c.5906_5914del (p.Thr1969_Lys1971del)
c.5876_5884del (p.Thr1959_Lys1961del)
n.2698_2706del
c.5771_5779del (p.Thr1924_Lys1926del)
c.5834_5842del (p.Thr1945_Lys1947del)
c.5774_5782del (p.Thr1925_Lys1927del)
c.5972_5980del (p.Thr1991_Lys1993del)
c.5969_5977del (p.Thr1990_Lys1992del)
 ClinVar
2g.71679094delCA2586969544DYSFc.3336del (p.Ala1113ProfsTer?)
c.2553del (p.Ala852ProfsTer?)
c.2661del (p.Ala888ProfsTer?)
c.5805del (p.Ala1936ProfsTer?)
c.5922del (p.Ala1975ProfsTer?)
c.5808del (p.Ala1937ProfsTer?)
c.5871del (p.Ala1958ProfsTer?)
c.5919del (p.Ala1974ProfsTer?)
c.5901del (p.Ala1968ProfsTer?)
c.5829del (p.Ala1944ProfsTer?)
c.5856del (p.Ala1953ProfsTer?)
c.5859del (p.Ala1954ProfsTer?)
c.5898del (p.Ala1967ProfsTer?)
c.5868del (p.Ala1957ProfsTer?)
n.2690del
c.5763del (p.Ala1922ProfsTer?)
c.5826del (p.Ala1943ProfsTer?)
c.5766del (p.Ala1923ProfsTer?)
c.5964del (p.Ala1989ProfsTer?)
c.5961del (p.Ala1988ProfsTer?)
2g.71679094A=CA1260156841DYSFc.3336A= (p.Pro1112=)
c.2553A= (p.Pro851=)
c.2661A= (p.Pro887=)
c.5805A= (p.Pro1935=)
c.5922A= (p.Pro1974=)
c.5808A= (p.Pro1936=)
c.5871A= (p.Pro1957=)
c.5919A= (p.Pro1973=)
c.5901A= (p.Pro1967=)
c.5829A= (p.Pro1943=)
c.5856A= (p.Pro1952=)
c.5859A= (p.Pro1953=)
c.5898A= (p.Pro1966=)
c.5868A= (p.Pro1956=)
n.2690A=
c.5763A= (p.Pro1921=)
c.5826A= (p.Pro1942=)
c.5766A= (p.Pro1922=)
c.5964A= (p.Pro1988=)
c.5961A= (p.Pro1987=)
2g.71679094A>CCA426704688DYSFc.3336A>C (p.Pro1112=)
c.2553A>C (p.Pro851=)
c.2661A>C (p.Pro887=)
c.5805A>C (p.Pro1935=)
c.5922A>C (p.Pro1974=)
c.5808A>C (p.Pro1936=)
c.5871A>C (p.Pro1957=)
c.5919A>C (p.Pro1973=)
c.5901A>C (p.Pro1967=)
c.5829A>C (p.Pro1943=)
c.5856A>C (p.Pro1952=)
c.5859A>C (p.Pro1953=)
c.5898A>C (p.Pro1966=)
c.5868A>C (p.Pro1956=)
n.2690A>C
c.5763A>C (p.Pro1921=)
c.5826A>C (p.Pro1942=)
c.5766A>C (p.Pro1922=)
c.5964A>C (p.Pro1988=)
c.5961A>C (p.Pro1987=)
2g.71679094A>GCA426704687DYSFc.3336A>G (p.Pro1112=)
c.2553A>G (p.Pro851=)
c.2661A>G (p.Pro887=)
c.5805A>G (p.Pro1935=)
c.5922A>G (p.Pro1974=)
c.5808A>G (p.Pro1936=)
c.5871A>G (p.Pro1957=)
c.5919A>G (p.Pro1973=)
c.5901A>G (p.Pro1967=)
c.5829A>G (p.Pro1943=)
c.5856A>G (p.Pro1952=)
c.5859A>G (p.Pro1953=)
c.5898A>G (p.Pro1966=)
c.5868A>G (p.Pro1956=)
n.2690A>G
c.5763A>G (p.Pro1921=)
c.5826A>G (p.Pro1942=)
c.5766A>G (p.Pro1922=)
c.5964A>G (p.Pro1988=)
c.5961A>G (p.Pro1987=)
2g.71679094A>TCA426704686DYSFc.3336A>T (p.Pro1112=)
c.2553A>T (p.Pro851=)
c.2661A>T (p.Pro887=)
c.5805A>T (p.Pro1935=)
c.5922A>T (p.Pro1974=)
c.5808A>T (p.Pro1936=)
c.5871A>T (p.Pro1957=)
c.5919A>T (p.Pro1973=)
c.5901A>T (p.Pro1967=)
c.5829A>T (p.Pro1943=)
c.5856A>T (p.Pro1952=)
c.5859A>T (p.Pro1953=)
c.5898A>T (p.Pro1966=)
c.5868A>T (p.Pro1956=)
n.2690A>T
c.5763A>T (p.Pro1921=)
c.5826A>T (p.Pro1942=)
c.5766A>T (p.Pro1922=)
c.5964A>T (p.Pro1988=)
c.5961A>T (p.Pro1987=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71679095G>ACA347226289DYSFc.3337G>A (p.Ala1113Thr)
c.2554G>A (p.Ala852Thr)
c.2662G>A (p.Ala888Thr)
c.5806G>A (p.Ala1936Thr)
c.5923G>A (p.Ala1975Thr)
c.5809G>A (p.Ala1937Thr)
c.5872G>A (p.Ala1958Thr)
c.5920G>A (p.Ala1974Thr)
c.5902G>A (p.Ala1968Thr)
c.5830G>A (p.Ala1944Thr)
c.5857G>A (p.Ala1953Thr)
c.5860G>A (p.Ala1954Thr)
c.5899G>A (p.Ala1967Thr)
c.5869G>A (p.Ala1957Thr)
n.2691G>A
c.5764G>A (p.Ala1922Thr)
c.5827G>A (p.Ala1943Thr)
c.5767G>A (p.Ala1923Thr)
c.5965G>A (p.Ala1989Thr)
c.5962G>A (p.Ala1988Thr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.71679095G>CCA347226290DYSFc.3337G>C (p.Ala1113Pro)
c.2554G>C (p.Ala852Pro)
c.2662G>C (p.Ala888Pro)
c.5806G>C (p.Ala1936Pro)
c.5923G>C (p.Ala1975Pro)
c.5809G>C (p.Ala1937Pro)
c.5872G>C (p.Ala1958Pro)
c.5920G>C (p.Ala1974Pro)
c.5902G>C (p.Ala1968Pro)
c.5830G>C (p.Ala1944Pro)
c.5857G>C (p.Ala1953Pro)
c.5860G>C (p.Ala1954Pro)
c.5899G>C (p.Ala1967Pro)
c.5869G>C (p.Ala1957Pro)
n.2691G>C
c.5764G>C (p.Ala1922Pro)
c.5827G>C (p.Ala1943Pro)
c.5767G>C (p.Ala1923Pro)
c.5965G>C (p.Ala1989Pro)
c.5962G>C (p.Ala1988Pro)
2g.71679095G=CA1260156842DYSFc.3337G= (p.Ala1113=)
c.2554G= (p.Ala852=)
c.2662G= (p.Ala888=)
c.5806G= (p.Ala1936=)
c.5923G= (p.Ala1975=)
c.5809G= (p.Ala1937=)
c.5872G= (p.Ala1958=)
c.5920G= (p.Ala1974=)
c.5902G= (p.Ala1968=)
c.5830G= (p.Ala1944=)
c.5857G= (p.Ala1953=)
c.5860G= (p.Ala1954=)
c.5899G= (p.Ala1967=)
c.5869G= (p.Ala1957=)
n.2691G=
c.5764G= (p.Ala1922=)
c.5827G= (p.Ala1943=)
c.5767G= (p.Ala1923=)
c.5965G= (p.Ala1989=)
c.5962G= (p.Ala1988=)
2g.71679095G>TCA347226291DYSFc.3337G>T (p.Ala1113Ser)
c.2554G>T (p.Ala852Ser)
c.2662G>T (p.Ala888Ser)
c.5806G>T (p.Ala1936Ser)
c.5923G>T (p.Ala1975Ser)
c.5809G>T (p.Ala1937Ser)
c.5872G>T (p.Ala1958Ser)
c.5920G>T (p.Ala1974Ser)
c.5902G>T (p.Ala1968Ser)
c.5830G>T (p.Ala1944Ser)
c.5857G>T (p.Ala1953Ser)
c.5860G>T (p.Ala1954Ser)
c.5899G>T (p.Ala1967Ser)
c.5869G>T (p.Ala1957Ser)
n.2691G>T
c.5764G>T (p.Ala1922Ser)
c.5827G>T (p.Ala1943Ser)
c.5767G>T (p.Ala1923Ser)
c.5965G>T (p.Ala1989Ser)
c.5962G>T (p.Ala1988Ser)
2g.71679096C>ACA347226292DYSFc.3338C>A (p.Ala1113Asp)
c.2555C>A (p.Ala852Asp)
c.2663C>A (p.Ala888Asp)
c.5807C>A (p.Ala1936Asp)
c.5924C>A (p.Ala1975Asp)
c.5810C>A (p.Ala1937Asp)
c.5873C>A (p.Ala1958Asp)
c.5921C>A (p.Ala1974Asp)
c.5903C>A (p.Ala1968Asp)
c.5831C>A (p.Ala1944Asp)
c.5858C>A (p.Ala1953Asp)
c.5861C>A (p.Ala1954Asp)
c.5900C>A (p.Ala1967Asp)
c.5870C>A (p.Ala1957Asp)
n.2692C>A
c.5765C>A (p.Ala1922Asp)
c.5828C>A (p.Ala1943Asp)
c.5768C>A (p.Ala1923Asp)
c.5966C>A (p.Ala1989Asp)
c.5963C>A (p.Ala1988Asp)
2g.71679096C>GCA347226293DYSFc.3338C>G (p.Ala1113Gly)
c.2555C>G (p.Ala852Gly)
c.2663C>G (p.Ala888Gly)
c.5807C>G (p.Ala1936Gly)
c.5924C>G (p.Ala1975Gly)
c.5810C>G (p.Ala1937Gly)
c.5873C>G (p.Ala1958Gly)
c.5921C>G (p.Ala1974Gly)
c.5903C>G (p.Ala1968Gly)
c.5831C>G (p.Ala1944Gly)
c.5858C>G (p.Ala1953Gly)
c.5861C>G (p.Ala1954Gly)
c.5900C>G (p.Ala1967Gly)
c.5870C>G (p.Ala1957Gly)
n.2692C>G
c.5765C>G (p.Ala1922Gly)
c.5828C>G (p.Ala1943Gly)
c.5768C>G (p.Ala1923Gly)
c.5966C>G (p.Ala1989Gly)
c.5963C>G (p.Ala1988Gly)
2g.71679096C>TCA347226294DYSFc.3338C>T (p.Ala1113Val)
c.2555C>T (p.Ala852Val)
c.2663C>T (p.Ala888Val)
c.5807C>T (p.Ala1936Val)
c.5924C>T (p.Ala1975Val)
c.5810C>T (p.Ala1937Val)
c.5873C>T (p.Ala1958Val)
c.5921C>T (p.Ala1974Val)
c.5903C>T (p.Ala1968Val)
c.5831C>T (p.Ala1944Val)
c.5858C>T (p.Ala1953Val)
c.5861C>T (p.Ala1954Val)
c.5900C>T (p.Ala1967Val)
c.5870C>T (p.Ala1957Val)
n.2692C>T
c.5765C>T (p.Ala1922Val)
c.5828C>T (p.Ala1943Val)
c.5768C>T (p.Ala1923Val)
c.5966C>T (p.Ala1989Val)
c.5963C>T (p.Ala1988Val)
2g.71679097C>ACA426704690DYSFc.3339C>A (p.Ala1113=)
c.2556C>A (p.Ala852=)
c.2664C>A (p.Ala888=)
c.5808C>A (p.Ala1936=)
c.5925C>A (p.Ala1975=)
c.5811C>A (p.Ala1937=)
c.5874C>A (p.Ala1958=)
c.5922C>A (p.Ala1974=)
c.5904C>A (p.Ala1968=)
c.5832C>A (p.Ala1944=)
c.5859C>A (p.Ala1953=)
c.5862C>A (p.Ala1954=)
c.5901C>A (p.Ala1967=)
c.5871C>A (p.Ala1957=)
n.2693C>A
c.5766C>A (p.Ala1922=)
c.5829C>A (p.Ala1943=)
c.5769C>A (p.Ala1923=)
c.5967C>A (p.Ala1989=)
c.5964C>A (p.Ala1988=)
2g.71679097C>GCA426704692DYSFc.3339C>G (p.Ala1113=)
c.2556C>G (p.Ala852=)
c.2664C>G (p.Ala888=)
c.5808C>G (p.Ala1936=)
c.5925C>G (p.Ala1975=)
c.5811C>G (p.Ala1937=)
c.5874C>G (p.Ala1958=)
c.5922C>G (p.Ala1974=)
c.5904C>G (p.Ala1968=)
c.5832C>G (p.Ala1944=)
c.5859C>G (p.Ala1953=)
c.5862C>G (p.Ala1954=)
c.5901C>G (p.Ala1967=)
c.5871C>G (p.Ala1957=)
n.2693C>G
c.5766C>G (p.Ala1922=)
c.5829C>G (p.Ala1943=)
c.5769C>G (p.Ala1923=)
c.5967C>G (p.Ala1989=)
c.5964C>G (p.Ala1988=)
2g.71679097C>TCA426704691DYSFc.3339C>T (p.Ala1113=)
c.2556C>T (p.Ala852=)
c.2664C>T (p.Ala888=)
c.5808C>T (p.Ala1936=)
c.5925C>T (p.Ala1975=)
c.5811C>T (p.Ala1937=)
c.5874C>T (p.Ala1958=)
c.5922C>T (p.Ala1974=)
c.5904C>T (p.Ala1968=)
c.5832C>T (p.Ala1944=)
c.5859C>T (p.Ala1953=)
c.5862C>T (p.Ala1954=)
c.5901C>T (p.Ala1967=)
c.5871C>T (p.Ala1957=)
n.2693C>T
c.5766C>T (p.Ala1922=)
c.5829C>T (p.Ala1943=)
c.5769C>T (p.Ala1923=)
c.5967C>T (p.Ala1989=)
c.5964C>T (p.Ala1988=)
2g.71679098A=CA1260156843DYSFc.3340A= (p.Lys1114=)
c.2557A= (p.Lys853=)
c.2665A= (p.Lys889=)
c.5809A= (p.Lys1937=)
c.5926A= (p.Lys1976=)
c.5812A= (p.Lys1938=)
c.5875A= (p.Lys1959=)
c.5923A= (p.Lys1975=)
c.5905A= (p.Lys1969=)
c.5833A= (p.Lys1945=)
c.5860A= (p.Lys1954=)
c.5863A= (p.Lys1955=)
c.5902A= (p.Lys1968=)
c.5872A= (p.Lys1958=)
n.2694A=
c.5767A= (p.Lys1923=)
c.5830A= (p.Lys1944=)
c.5770A= (p.Lys1924=)
c.5968A= (p.Lys1990=)
c.5965A= (p.Lys1989=)
2g.71679098A>CCA347226295DYSFc.3340A>C (p.Lys1114Gln)
c.2557A>C (p.Lys853Gln)
c.2665A>C (p.Lys889Gln)
c.5809A>C (p.Lys1937Gln)
c.5926A>C (p.Lys1976Gln)
c.5812A>C (p.Lys1938Gln)
c.5875A>C (p.Lys1959Gln)
c.5923A>C (p.Lys1975Gln)
c.5905A>C (p.Lys1969Gln)
c.5833A>C (p.Lys1945Gln)
c.5860A>C (p.Lys1954Gln)
c.5863A>C (p.Lys1955Gln)
c.5902A>C (p.Lys1968Gln)
c.5872A>C (p.Lys1958Gln)
n.2694A>C
c.5767A>C (p.Lys1923Gln)
c.5830A>C (p.Lys1944Gln)
c.5770A>C (p.Lys1924Gln)
c.5968A>C (p.Lys1990Gln)
c.5965A>C (p.Lys1989Gln)
2g.71679098A>GCA347226297DYSFc.3340A>G (p.Lys1114Glu)
c.2557A>G (p.Lys853Glu)
c.2665A>G (p.Lys889Glu)
c.5809A>G (p.Lys1937Glu)
c.5926A>G (p.Lys1976Glu)
c.5812A>G (p.Lys1938Glu)
c.5875A>G (p.Lys1959Glu)
c.5923A>G (p.Lys1975Glu)
c.5905A>G (p.Lys1969Glu)
c.5833A>G (p.Lys1945Glu)
c.5860A>G (p.Lys1954Glu)
c.5863A>G (p.Lys1955Glu)
c.5902A>G (p.Lys1968Glu)
c.5872A>G (p.Lys1958Glu)
n.2694A>G
c.5767A>G (p.Lys1923Glu)
c.5830A>G (p.Lys1944Glu)
c.5770A>G (p.Lys1924Glu)
c.5968A>G (p.Lys1990Glu)
c.5965A>G (p.Lys1989Glu)
 ClinVar dbSNP gnomAD v4
2g.71679098A>TCA347226296DYSFc.3340A>T (p.Lys1114Ter)
c.2557A>T (p.Lys853Ter)
c.2665A>T (p.Lys889Ter)
c.5809A>T (p.Lys1937Ter)
c.5926A>T (p.Lys1976Ter)
c.5812A>T (p.Lys1938Ter)
c.5875A>T (p.Lys1959Ter)
c.5923A>T (p.Lys1975Ter)
c.5905A>T (p.Lys1969Ter)
c.5833A>T (p.Lys1945Ter)
c.5860A>T (p.Lys1954Ter)
c.5863A>T (p.Lys1955Ter)
c.5902A>T (p.Lys1968Ter)
c.5872A>T (p.Lys1958Ter)
n.2694A>T
c.5767A>T (p.Lys1923Ter)
c.5830A>T (p.Lys1944Ter)
c.5770A>T (p.Lys1924Ter)
c.5968A>T (p.Lys1990Ter)
c.5965A>T (p.Lys1989Ter)
2g.71679099A>CCA347226298DYSFc.3341A>C (p.Lys1114Thr)
c.2558A>C (p.Lys853Thr)
c.2666A>C (p.Lys889Thr)
c.5810A>C (p.Lys1937Thr)
c.5927A>C (p.Lys1976Thr)
c.5813A>C (p.Lys1938Thr)
c.5876A>C (p.Lys1959Thr)
c.5924A>C (p.Lys1975Thr)
c.5906A>C (p.Lys1969Thr)
c.5834A>C (p.Lys1945Thr)
c.5861A>C (p.Lys1954Thr)
c.5864A>C (p.Lys1955Thr)
c.5903A>C (p.Lys1968Thr)
c.5873A>C (p.Lys1958Thr)
n.2695A>C
c.5768A>C (p.Lys1923Thr)
c.5831A>C (p.Lys1944Thr)
c.5771A>C (p.Lys1924Thr)
c.5969A>C (p.Lys1990Thr)
c.5966A>C (p.Lys1989Thr)
2g.71679099A>GCA347226300DYSFc.3341A>G (p.Lys1114Arg)
c.2558A>G (p.Lys853Arg)
c.2666A>G (p.Lys889Arg)
c.5810A>G (p.Lys1937Arg)
c.5927A>G (p.Lys1976Arg)
c.5813A>G (p.Lys1938Arg)
c.5876A>G (p.Lys1959Arg)
c.5924A>G (p.Lys1975Arg)
c.5906A>G (p.Lys1969Arg)
c.5834A>G (p.Lys1945Arg)
c.5861A>G (p.Lys1954Arg)
c.5864A>G (p.Lys1955Arg)
c.5903A>G (p.Lys1968Arg)
c.5873A>G (p.Lys1958Arg)
n.2695A>G
c.5768A>G (p.Lys1923Arg)
c.5831A>G (p.Lys1944Arg)
c.5771A>G (p.Lys1924Arg)
c.5969A>G (p.Lys1990Arg)
c.5966A>G (p.Lys1989Arg)
2g.71679099A>TCA347226299DYSFc.3341A>T (p.Lys1114Met)
c.2558A>T (p.Lys853Met)
c.2666A>T (p.Lys889Met)
c.5810A>T (p.Lys1937Met)
c.5927A>T (p.Lys1976Met)
c.5813A>T (p.Lys1938Met)
c.5876A>T (p.Lys1959Met)
c.5924A>T (p.Lys1975Met)
c.5906A>T (p.Lys1969Met)
c.5834A>T (p.Lys1945Met)
c.5861A>T (p.Lys1954Met)
c.5864A>T (p.Lys1955Met)
c.5903A>T (p.Lys1968Met)
c.5873A>T (p.Lys1958Met)
n.2695A>T
c.5768A>T (p.Lys1923Met)
c.5831A>T (p.Lys1944Met)
c.5771A>T (p.Lys1924Met)
c.5969A>T (p.Lys1990Met)
c.5966A>T (p.Lys1989Met)
2g.71679100G>ACA426704693DYSFc.3342G>A (p.Lys1114=)
c.2559G>A (p.Lys853=)
c.2667G>A (p.Lys889=)
c.5811G>A (p.Lys1937=)
c.5928G>A (p.Lys1976=)
c.5814G>A (p.Lys1938=)
c.5877G>A (p.Lys1959=)
c.5925G>A (p.Lys1975=)
c.5907G>A (p.Lys1969=)
c.5835G>A (p.Lys1945=)
c.5862G>A (p.Lys1954=)
c.5865G>A (p.Lys1955=)
c.5904G>A (p.Lys1968=)
c.5874G>A (p.Lys1958=)
n.2696G>A
c.5769G>A (p.Lys1923=)
c.5832G>A (p.Lys1944=)
c.5772G>A (p.Lys1924=)
c.5970G>A (p.Lys1990=)
c.5967G>A (p.Lys1989=)
2g.71679100G>CCA347226301DYSFc.3342G>C (p.Lys1114Asn)
c.2559G>C (p.Lys853Asn)
c.2667G>C (p.Lys889Asn)
c.5811G>C (p.Lys1937Asn)
c.5928G>C (p.Lys1976Asn)
c.5814G>C (p.Lys1938Asn)
c.5877G>C (p.Lys1959Asn)
c.5925G>C (p.Lys1975Asn)
c.5907G>C (p.Lys1969Asn)
c.5835G>C (p.Lys1945Asn)
c.5862G>C (p.Lys1954Asn)
c.5865G>C (p.Lys1955Asn)
c.5904G>C (p.Lys1968Asn)
c.5874G>C (p.Lys1958Asn)
n.2696G>C
c.5769G>C (p.Lys1923Asn)
c.5832G>C (p.Lys1944Asn)
c.5772G>C (p.Lys1924Asn)
c.5970G>C (p.Lys1990Asn)
c.5967G>C (p.Lys1989Asn)
2g.71679100G>TCA347226302DYSFc.3342G>T (p.Lys1114Asn)
c.2559G>T (p.Lys853Asn)
c.2667G>T (p.Lys889Asn)
c.5811G>T (p.Lys1937Asn)
c.5928G>T (p.Lys1976Asn)
c.5814G>T (p.Lys1938Asn)
c.5877G>T (p.Lys1959Asn)
c.5925G>T (p.Lys1975Asn)
c.5907G>T (p.Lys1969Asn)
c.5835G>T (p.Lys1945Asn)
c.5862G>T (p.Lys1954Asn)
c.5865G>T (p.Lys1955Asn)
c.5904G>T (p.Lys1968Asn)
c.5874G>T (p.Lys1958Asn)
n.2696G>T
c.5769G>T (p.Lys1923Asn)
c.5832G>T (p.Lys1944Asn)
c.5772G>T (p.Lys1924Asn)
c.5970G>T (p.Lys1990Asn)
c.5967G>T (p.Lys1989Asn)
2g.71679101A=CA1260156844DYSFc.3343A= (p.Thr1115=)
c.2560A= (p.Thr854=)
c.2668A= (p.Thr890=)
c.5812A= (p.Thr1938=)
c.5929A= (p.Thr1977=)
c.5815A= (p.Thr1939=)
c.5878A= (p.Thr1960=)
c.5926A= (p.Thr1976=)
c.5908A= (p.Thr1970=)
c.5836A= (p.Thr1946=)
c.5863A= (p.Thr1955=)
c.5866A= (p.Thr1956=)
c.5905A= (p.Thr1969=)
c.5875A= (p.Thr1959=)
n.2697A=
c.5770A= (p.Thr1924=)
c.5833A= (p.Thr1945=)
c.5773A= (p.Thr1925=)
c.5971A= (p.Thr1991=)
c.5968A= (p.Thr1990=)
2g.71679101A>CCA347226303DYSFc.3343A>C (p.Thr1115Pro)
c.2560A>C (p.Thr854Pro)
c.2668A>C (p.Thr890Pro)
c.5812A>C (p.Thr1938Pro)
c.5929A>C (p.Thr1977Pro)
c.5815A>C (p.Thr1939Pro)
c.5878A>C (p.Thr1960Pro)
c.5926A>C (p.Thr1976Pro)
c.5908A>C (p.Thr1970Pro)
c.5836A>C (p.Thr1946Pro)
c.5863A>C (p.Thr1955Pro)
c.5866A>C (p.Thr1956Pro)
c.5905A>C (p.Thr1969Pro)
c.5875A>C (p.Thr1959Pro)
n.2697A>C
c.5770A>C (p.Thr1924Pro)
c.5833A>C (p.Thr1945Pro)
c.5773A>C (p.Thr1925Pro)
c.5971A>C (p.Thr1991Pro)
c.5968A>C (p.Thr1990Pro)
2g.71679101A>GCA347226304DYSFc.3343A>G (p.Thr1115Ala)
c.2560A>G (p.Thr854Ala)
c.2668A>G (p.Thr890Ala)
c.5812A>G (p.Thr1938Ala)
c.5929A>G (p.Thr1977Ala)
c.5815A>G (p.Thr1939Ala)
c.5878A>G (p.Thr1960Ala)
c.5926A>G (p.Thr1976Ala)
c.5908A>G (p.Thr1970Ala)
c.5836A>G (p.Thr1946Ala)
c.5863A>G (p.Thr1955Ala)
c.5866A>G (p.Thr1956Ala)
c.5905A>G (p.Thr1969Ala)
c.5875A>G (p.Thr1959Ala)
n.2697A>G
c.5770A>G (p.Thr1924Ala)
c.5833A>G (p.Thr1945Ala)
c.5773A>G (p.Thr1925Ala)
c.5971A>G (p.Thr1991Ala)
c.5968A>G (p.Thr1990Ala)
 dbSNP
2g.71679101A>TCA347226305DYSFc.3343A>T (p.Thr1115Ser)
c.2560A>T (p.Thr854Ser)
c.2668A>T (p.Thr890Ser)
c.5812A>T (p.Thr1938Ser)
c.5929A>T (p.Thr1977Ser)
c.5815A>T (p.Thr1939Ser)
c.5878A>T (p.Thr1960Ser)
c.5926A>T (p.Thr1976Ser)
c.5908A>T (p.Thr1970Ser)
c.5836A>T (p.Thr1946Ser)
c.5863A>T (p.Thr1955Ser)
c.5866A>T (p.Thr1956Ser)
c.5905A>T (p.Thr1969Ser)
c.5875A>T (p.Thr1959Ser)
n.2697A>T
c.5770A>T (p.Thr1924Ser)
c.5833A>T (p.Thr1945Ser)
c.5773A>T (p.Thr1925Ser)
c.5971A>T (p.Thr1991Ser)
c.5968A>T (p.Thr1990Ser)

Number of alleles fetched