Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71611453C=CA1260124115DYSFc.1474-12C= (n.1474-12C=)
c.691-12C= (n.691-12C=)
c.649-12C= (n.649-12C=)
c.4006-12C= (n.4006-12C=)
c.4060-12C= (n.4060-12C=)
c.4009-12C= (n.4009-12C=)
c.4057-12C= (n.4057-12C=)
c.4102-12C= (n.4102-12C=)
c.3967-12C= (n.3967-12C=)
c.4099-12C= (n.4099-12C=)
n.242-12C=
n.390-12C=
n.891-12C=
n.225-12C=
n.366-74C=
c.3964-12C= (n.3964-12C=)
n.4260-12C=
2g.71611453C>TCA1706884DYSFc.1474-12C>T (n.1474-12C>T)
c.691-12C>T (n.691-12C>T)
c.649-12C>T (n.649-12C>T)
c.4006-12C>T (n.4006-12C>T)
c.4060-12C>T (n.4060-12C>T)
c.4009-12C>T (n.4009-12C>T)
c.4057-12C>T (n.4057-12C>T)
c.4102-12C>T (n.4102-12C>T)
c.3967-12C>T (n.3967-12C>T)
c.4099-12C>T (n.4099-12C>T)
n.242-12C>T
n.390-12C>T
n.891-12C>T
n.225-12C>T
n.366-74C>T
c.3964-12C>T (n.3964-12C>T)
n.4260-12C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71611454T>GCA1260124117DYSFc.1474-11T>G (n.1474-11T>G)
c.691-11T>G (n.691-11T>G)
c.649-11T>G (n.649-11T>G)
c.4006-11T>G (n.4006-11T>G)
c.4060-11T>G (n.4060-11T>G)
c.4009-11T>G (n.4009-11T>G)
c.4057-11T>G (n.4057-11T>G)
c.4102-11T>G (n.4102-11T>G)
c.3967-11T>G (n.3967-11T>G)
c.4099-11T>G (n.4099-11T>G)
n.242-11T>G
n.390-11T>G
n.891-11T>G
n.225-11T>G
n.366-73T>G
c.3964-11T>G (n.3964-11T>G)
n.4260-11T>G
 dbSNP
2g.71611454T=CA1260124116DYSFc.1474-11T= (n.1474-11T=)
c.691-11T= (n.691-11T=)
c.649-11T= (n.649-11T=)
c.4006-11T= (n.4006-11T=)
c.4060-11T= (n.4060-11T=)
c.4009-11T= (n.4009-11T=)
c.4057-11T= (n.4057-11T=)
c.4102-11T= (n.4102-11T=)
c.3967-11T= (n.3967-11T=)
c.4099-11T= (n.4099-11T=)
n.242-11T=
n.390-11T=
n.891-11T=
n.225-11T=
n.366-73T=
c.3964-11T= (n.3964-11T=)
n.4260-11T=
2g.71611455G>ACA2659553252DYSFc.1474-10G>A (n.1474-10G>A)
c.691-10G>A (n.691-10G>A)
c.649-10G>A (n.649-10G>A)
c.4006-10G>A (n.4006-10G>A)
c.4060-10G>A (n.4060-10G>A)
c.4009-10G>A (n.4009-10G>A)
c.4057-10G>A (n.4057-10G>A)
c.4102-10G>A (n.4102-10G>A)
c.3967-10G>A (n.3967-10G>A)
c.4099-10G>A (n.4099-10G>A)
n.242-10G>A
n.390-10G>A
n.891-10G>A
n.225-10G>A
n.366-72G>A
c.3964-10G>A (n.3964-10G>A)
n.4260-10G>A
 gnomAD v4
2g.71611455G=CA1260124118DYSFc.1474-10G= (n.1474-10G=)
c.691-10G= (n.691-10G=)
c.649-10G= (n.649-10G=)
c.4006-10G= (n.4006-10G=)
c.4060-10G= (n.4060-10G=)
c.4009-10G= (n.4009-10G=)
c.4057-10G= (n.4057-10G=)
c.4102-10G= (n.4102-10G=)
c.3967-10G= (n.3967-10G=)
c.4099-10G= (n.4099-10G=)
n.242-10G=
n.390-10G=
n.891-10G=
n.225-10G=
n.366-72G=
c.3964-10G= (n.3964-10G=)
n.4260-10G=
2g.71611455G>TCA533655633DYSFc.1474-10G>T (n.1474-10G>T)
c.691-10G>T (n.691-10G>T)
c.649-10G>T (n.649-10G>T)
c.4006-10G>T (n.4006-10G>T)
c.4060-10G>T (n.4060-10G>T)
c.4009-10G>T (n.4009-10G>T)
c.4057-10G>T (n.4057-10G>T)
c.4102-10G>T (n.4102-10G>T)
c.3967-10G>T (n.3967-10G>T)
c.4099-10G>T (n.4099-10G>T)
n.242-10G>T
n.390-10G>T
n.891-10G>T
n.225-10G>T
n.366-72G>T
c.3964-10G>T (n.3964-10G>T)
n.4260-10G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71611456T>CCA2659553253DYSFc.1474-9T>C (n.1474-9T>C)
c.691-9T>C (n.691-9T>C)
c.649-9T>C (n.649-9T>C)
c.4006-9T>C (n.4006-9T>C)
c.4060-9T>C (n.4060-9T>C)
c.4009-9T>C (n.4009-9T>C)
c.4057-9T>C (n.4057-9T>C)
c.4102-9T>C (n.4102-9T>C)
c.3967-9T>C (n.3967-9T>C)
c.4099-9T>C (n.4099-9T>C)
n.242-9T>C
n.390-9T>C
n.891-9T>C
n.225-9T>C
n.366-71T>C
c.3964-9T>C (n.3964-9T>C)
n.4260-9T>C
 gnomAD v4
2g.71611457G=CA1260124119DYSFc.1474-8G= (n.1474-8G=)
c.691-8G= (n.691-8G=)
c.649-8G= (n.649-8G=)
c.4006-8G= (n.4006-8G=)
c.4060-8G= (n.4060-8G=)
c.4009-8G= (n.4009-8G=)
c.4057-8G= (n.4057-8G=)
c.4102-8G= (n.4102-8G=)
c.3967-8G= (n.3967-8G=)
c.4099-8G= (n.4099-8G=)
n.242-8G=
n.390-8G=
n.891-8G=
n.225-8G=
n.366-70G=
c.3964-8G= (n.3964-8G=)
n.4260-8G=
2g.71611457G>TCA49778910DYSFc.1474-8G>T (n.1474-8G>T)
c.691-8G>T (n.691-8G>T)
c.649-8G>T (n.649-8G>T)
c.4006-8G>T (n.4006-8G>T)
c.4060-8G>T (n.4060-8G>T)
c.4009-8G>T (n.4009-8G>T)
c.4057-8G>T (n.4057-8G>T)
c.4102-8G>T (n.4102-8G>T)
c.3967-8G>T (n.3967-8G>T)
c.4099-8G>T (n.4099-8G>T)
n.242-8G>T
n.390-8G>T
n.891-8G>T
n.225-8G>T
n.366-70G>T
c.3964-8G>T (n.3964-8G>T)
n.4260-8G>T
 dbSNP gnomAD v4 COSMIC COSMIC
2g.71611458T>ACA1706885DYSFc.1474-7T>A (n.1474-7T>A)
c.691-7T>A (n.691-7T>A)
c.649-7T>A (n.649-7T>A)
c.4006-7T>A (n.4006-7T>A)
c.4060-7T>A (n.4060-7T>A)
c.4009-7T>A (n.4009-7T>A)
c.4057-7T>A (n.4057-7T>A)
c.4102-7T>A (n.4102-7T>A)
c.3967-7T>A (n.3967-7T>A)
c.4099-7T>A (n.4099-7T>A)
n.242-7T>A
n.390-7T>A
n.891-7T>A
n.225-7T>A
n.366-69T>A
c.3964-7T>A (n.3964-7T>A)
n.4260-7T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71611458T=CA1260124120DYSFc.1474-7T= (n.1474-7T=)
c.691-7T= (n.691-7T=)
c.649-7T= (n.649-7T=)
c.4006-7T= (n.4006-7T=)
c.4060-7T= (n.4060-7T=)
c.4009-7T= (n.4009-7T=)
c.4057-7T= (n.4057-7T=)
c.4102-7T= (n.4102-7T=)
c.3967-7T= (n.3967-7T=)
c.4099-7T= (n.4099-7T=)
n.242-7T=
n.390-7T=
n.891-7T=
n.225-7T=
n.366-69T=
c.3964-7T= (n.3964-7T=)
n.4260-7T=
2g.71611460C=CA1260124121DYSFc.1474-5C= (n.1474-5C=)
c.691-5C= (n.691-5C=)
c.649-5C= (n.649-5C=)
c.4006-5C= (n.4006-5C=)
c.4060-5C= (n.4060-5C=)
c.4009-5C= (n.4009-5C=)
c.4057-5C= (n.4057-5C=)
c.4102-5C= (n.4102-5C=)
c.3967-5C= (n.3967-5C=)
c.4099-5C= (n.4099-5C=)
n.242-5C=
n.390-5C=
n.891-5C=
n.225-5C=
n.366-67C=
c.3964-5C= (n.3964-5C=)
n.4260-5C=
2g.71611460C>TCA1706886DYSFc.1474-5C>T (n.1474-5C>T)
c.691-5C>T (n.691-5C>T)
c.649-5C>T (n.649-5C>T)
c.4006-5C>T (n.4006-5C>T)
c.4060-5C>T (n.4060-5C>T)
c.4009-5C>T (n.4009-5C>T)
c.4057-5C>T (n.4057-5C>T)
c.4102-5C>T (n.4102-5C>T)
c.3967-5C>T (n.3967-5C>T)
c.4099-5C>T (n.4099-5C>T)
n.242-5C>T
n.390-5C>T
n.891-5C>T
n.225-5C>T
n.366-67C>T
c.3964-5C>T (n.3964-5C>T)
n.4260-5C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71611462_71611469delCA2659553254DYSFc.1474-3_1478del
c.691-3_695del
c.649-3_653del
c.4006-3_4010del
c.4060-3_4064del
c.4009-3_4013del
c.4057-3_4061del
c.4102-3_4106del
c.3967-3_3971del
c.4099-3_4103del
n.242-3_246del
n.390-3_394del
n.891-3_895del
n.225-3_229del
n.366-65_366-58del
c.3964-3_3968del
n.4260-3_4264del
 gnomAD v4
2g.71611461T>CCA2659553255DYSFc.1474-4T>C (n.1474-4T>C)
c.691-4T>C (n.691-4T>C)
c.649-4T>C (n.649-4T>C)
c.4006-4T>C (n.4006-4T>C)
c.4060-4T>C (n.4060-4T>C)
c.4009-4T>C (n.4009-4T>C)
c.4057-4T>C (n.4057-4T>C)
c.4102-4T>C (n.4102-4T>C)
c.3967-4T>C (n.3967-4T>C)
c.4099-4T>C (n.4099-4T>C)
n.242-4T>C
n.390-4T>C
n.891-4T>C
n.225-4T>C
n.366-66T>C
c.3964-4T>C (n.3964-4T>C)
n.4260-4T>C
 gnomAD v4
2g.71611463A=CA1260124122DYSFc.1474-2A= (n.1474-2A=)
c.691-2A= (n.691-2A=)
c.649-2A= (n.649-2A=)
c.4006-2A= (n.4006-2A=)
c.4060-2A= (n.4060-2A=)
c.4009-2A= (n.4009-2A=)
c.4057-2A= (n.4057-2A=)
c.4102-2A= (n.4102-2A=)
c.3967-2A= (n.3967-2A=)
c.4099-2A= (n.4099-2A=)
n.242-2A=
n.390-2A=
n.891-2A=
n.225-2A=
n.366-64A=
c.3964-2A= (n.3964-2A=)
n.4260-2A=
2g.71611463A>CCA347228374DYSFc.1474-2A>C (n.1474-2A>C)
c.691-2A>C (n.691-2A>C)
c.649-2A>C (n.649-2A>C)
c.4006-2A>C (n.4006-2A>C)
c.4060-2A>C (n.4060-2A>C)
c.4009-2A>C (n.4009-2A>C)
c.4057-2A>C (n.4057-2A>C)
c.4102-2A>C (n.4102-2A>C)
c.3967-2A>C (n.3967-2A>C)
c.4099-2A>C (n.4099-2A>C)
n.242-2A>C
n.390-2A>C
n.891-2A>C
n.225-2A>C
n.366-64A>C
c.3964-2A>C (n.3964-2A>C)
n.4260-2A>C
2g.71611463A>GCA347228375DYSFc.1474-2A>G (n.1474-2A>G)
c.691-2A>G (n.691-2A>G)
c.649-2A>G (n.649-2A>G)
c.4006-2A>G (n.4006-2A>G)
c.4060-2A>G (n.4060-2A>G)
c.4009-2A>G (n.4009-2A>G)
c.4057-2A>G (n.4057-2A>G)
c.4102-2A>G (n.4102-2A>G)
c.3967-2A>G (n.3967-2A>G)
c.4099-2A>G (n.4099-2A>G)
n.242-2A>G
n.390-2A>G
n.891-2A>G
n.225-2A>G
n.366-64A>G
c.3964-2A>G (n.3964-2A>G)
n.4260-2A>G
 dbSNP gnomAD v4
2g.71611463A>TCA347228376DYSFc.1474-2A>T (n.1474-2A>T)
c.691-2A>T (n.691-2A>T)
c.649-2A>T (n.649-2A>T)
c.4006-2A>T (n.4006-2A>T)
c.4060-2A>T (n.4060-2A>T)
c.4009-2A>T (n.4009-2A>T)
c.4057-2A>T (n.4057-2A>T)
c.4102-2A>T (n.4102-2A>T)
c.3967-2A>T (n.3967-2A>T)
c.4099-2A>T (n.4099-2A>T)
n.242-2A>T
n.390-2A>T
n.891-2A>T
n.225-2A>T
n.366-64A>T
c.3964-2A>T (n.3964-2A>T)
n.4260-2A>T
2g.71611464G>ACA347228378DYSFc.1474-1G>A (n.1474-1G>A)
c.691-1G>A (n.691-1G>A)
c.649-1G>A (n.649-1G>A)
c.4006-1G>A (n.4006-1G>A)
c.4060-1G>A (n.4060-1G>A)
c.4009-1G>A (n.4009-1G>A)
c.4057-1G>A (n.4057-1G>A)
c.4102-1G>A (n.4102-1G>A)
c.3967-1G>A (n.3967-1G>A)
c.4099-1G>A (n.4099-1G>A)
n.242-1G>A
n.390-1G>A
n.891-1G>A
n.225-1G>A
n.366-63G>A
c.3964-1G>A (n.3964-1G>A)
n.4260-1G>A
2g.71611464G>CCA347228379DYSFc.1474-1G>C (n.1474-1G>C)
c.691-1G>C (n.691-1G>C)
c.649-1G>C (n.649-1G>C)
c.4006-1G>C (n.4006-1G>C)
c.4060-1G>C (n.4060-1G>C)
c.4009-1G>C (n.4009-1G>C)
c.4057-1G>C (n.4057-1G>C)
c.4102-1G>C (n.4102-1G>C)
c.3967-1G>C (n.3967-1G>C)
c.4099-1G>C (n.4099-1G>C)
n.242-1G>C
n.390-1G>C
n.891-1G>C
n.225-1G>C
n.366-63G>C
c.3964-1G>C (n.3964-1G>C)
n.4260-1G>C
2g.71611464G>TCA347228377DYSFc.1474-1G>T (n.1474-1G>T)
c.691-1G>T (n.691-1G>T)
c.649-1G>T (n.649-1G>T)
c.4006-1G>T (n.4006-1G>T)
c.4060-1G>T (n.4060-1G>T)
c.4009-1G>T (n.4009-1G>T)
c.4057-1G>T (n.4057-1G>T)
c.4102-1G>T (n.4102-1G>T)
c.3967-1G>T (n.3967-1G>T)
c.4099-1G>T (n.4099-1G>T)
n.242-1G>T
n.390-1G>T
n.891-1G>T
n.225-1G>T
n.366-63G>T
c.3964-1G>T (n.3964-1G>T)
n.4260-1G>T
2g.71611465A>CCA347228382DYSFc.1474A>C (p.Ile492Leu)
c.691A>C (p.Ile231Leu)
c.649A>C (p.Ile217Leu)
c.4006A>C (p.Ile1336Leu)
c.4060A>C (p.Ile1354Leu)
c.4009A>C (p.Ile1337Leu)
c.4057A>C (p.Ile1353Leu)
c.4102A>C (p.Ile1368Leu)
c.3967A>C (p.Ile1323Leu)
c.4099A>C (p.Ile1367Leu)
n.242A>C
n.390A>C
n.891A>C
n.225A>C
n.366-62A>C
c.3964A>C (p.Ile1322Leu)
n.4260A>C
2g.71611465A>GCA347228380DYSFc.1474A>G (p.Ile492Val)
c.691A>G (p.Ile231Val)
c.649A>G (p.Ile217Val)
c.4006A>G (p.Ile1336Val)
c.4060A>G (p.Ile1354Val)
c.4009A>G (p.Ile1337Val)
c.4057A>G (p.Ile1353Val)
c.4102A>G (p.Ile1368Val)
c.3967A>G (p.Ile1323Val)
c.4099A>G (p.Ile1367Val)
n.242A>G
n.390A>G
n.891A>G
n.225A>G
n.366-62A>G
c.3964A>G (p.Ile1322Val)
n.4260A>G
2g.71611465A>TCA347228381DYSFc.1474A>T (p.Ile492Phe)
c.691A>T (p.Ile231Phe)
c.649A>T (p.Ile217Phe)
c.4006A>T (p.Ile1336Phe)
c.4060A>T (p.Ile1354Phe)
c.4009A>T (p.Ile1337Phe)
c.4057A>T (p.Ile1353Phe)
c.4102A>T (p.Ile1368Phe)
c.3967A>T (p.Ile1323Phe)
c.4099A>T (p.Ile1367Phe)
n.242A>T
n.390A>T
n.891A>T
n.225A>T
n.366-62A>T
c.3964A>T (p.Ile1322Phe)
n.4260A>T
2g.71611466T>ACA347228383DYSFc.1475T>A (p.Ile492Asn)
c.692T>A (p.Ile231Asn)
c.650T>A (p.Ile217Asn)
c.4007T>A (p.Ile1336Asn)
c.4061T>A (p.Ile1354Asn)
c.4010T>A (p.Ile1337Asn)
c.4058T>A (p.Ile1353Asn)
c.4103T>A (p.Ile1368Asn)
c.3968T>A (p.Ile1323Asn)
c.4100T>A (p.Ile1367Asn)
n.243T>A
n.391T>A
n.892T>A
n.226T>A
n.366-61T>A
c.3965T>A (p.Ile1322Asn)
n.4261T>A
2g.71611466T>CCA347228384DYSFc.1475T>C (p.Ile492Thr)
c.692T>C (p.Ile231Thr)
c.650T>C (p.Ile217Thr)
c.4007T>C (p.Ile1336Thr)
c.4061T>C (p.Ile1354Thr)
c.4010T>C (p.Ile1337Thr)
c.4058T>C (p.Ile1353Thr)
c.4103T>C (p.Ile1368Thr)
c.3968T>C (p.Ile1323Thr)
c.4100T>C (p.Ile1367Thr)
n.243T>C
n.391T>C
n.892T>C
n.226T>C
n.366-61T>C
c.3965T>C (p.Ile1322Thr)
n.4261T>C
2g.71611466T>GCA347228385DYSFc.1475T>G (p.Ile492Ser)
c.692T>G (p.Ile231Ser)
c.650T>G (p.Ile217Ser)
c.4007T>G (p.Ile1336Ser)
c.4061T>G (p.Ile1354Ser)
c.4010T>G (p.Ile1337Ser)
c.4058T>G (p.Ile1353Ser)
c.4103T>G (p.Ile1368Ser)
c.3968T>G (p.Ile1323Ser)
c.4100T>G (p.Ile1367Ser)
n.243T>G
n.391T>G
n.892T>G
n.226T>G
n.366-61T>G
c.3965T>G (p.Ile1322Ser)
n.4261T>G
2g.71611467C>ACA147755DYSFc.1476C>A (p.Ile492=)
c.693C>A (p.Ile231=)
c.651C>A (p.Ile217=)
c.4008C>A (p.Ile1336=)
c.4062C>A (p.Ile1354=)
c.4011C>A (p.Ile1337=)
c.4059C>A (p.Ile1353=)
c.4104C>A (p.Ile1368=)
c.3969C>A (p.Ile1323=)
c.4101C>A (p.Ile1367=)
n.244C>A
n.392C>A
n.893C>A
n.227C>A
n.366-60C>A
c.3966C>A (p.Ile1322=)
n.4262C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71611467C=CA1260124123DYSFc.1476C= (p.Ile492=)
c.693C= (p.Ile231=)
c.651C= (p.Ile217=)
c.4008C= (p.Ile1336=)
c.4062C= (p.Ile1354=)
c.4011C= (p.Ile1337=)
c.4059C= (p.Ile1353=)
c.4104C= (p.Ile1368=)
c.3969C= (p.Ile1323=)
c.4101C= (p.Ile1367=)
n.244C=
n.392C=
n.893C=
n.227C=
n.366-60C=
c.3966C= (p.Ile1322=)
n.4262C=
2g.71611467C>GCA347228386DYSFc.1476C>G (p.Ile492Met)
c.693C>G (p.Ile231Met)
c.651C>G (p.Ile217Met)
c.4008C>G (p.Ile1336Met)
c.4062C>G (p.Ile1354Met)
c.4011C>G (p.Ile1337Met)
c.4059C>G (p.Ile1353Met)
c.4104C>G (p.Ile1368Met)
c.3969C>G (p.Ile1323Met)
c.4101C>G (p.Ile1367Met)
n.244C>G
n.392C>G
n.893C>G
n.227C>G
n.366-60C>G
c.3966C>G (p.Ile1322Met)
n.4262C>G
 dbSNP
2g.71611467C>TCA426758799DYSFc.1476C>T (p.Ile492=)
c.693C>T (p.Ile231=)
c.651C>T (p.Ile217=)
c.4008C>T (p.Ile1336=)
c.4062C>T (p.Ile1354=)
c.4011C>T (p.Ile1337=)
c.4059C>T (p.Ile1353=)
c.4104C>T (p.Ile1368=)
c.3969C>T (p.Ile1323=)
c.4101C>T (p.Ile1367=)
n.244C>T
n.392C>T
n.893C>T
n.227C>T
n.366-60C>T
c.3966C>T (p.Ile1322=)
n.4262C>T
 gnomAD v4
2g.71611467_71611469delinsACCA2586969505DYSFc.1476_1478delinsAC (p.Leu493ArgfsTer8)
c.693_695delinsAC (p.Leu232ArgfsTer8)
c.651_653delinsAC (p.Leu218ArgfsTer8)
c.4008_4010delinsAC (p.Leu1337ArgfsTer8)
c.4062_4064delinsAC (p.Leu1355ArgfsTer8)
c.4011_4013delinsAC (p.Leu1338ArgfsTer8)
c.4059_4061delinsAC (p.Leu1354ArgfsTer8)
c.4104_4106delinsAC (p.Leu1369ArgfsTer8)
c.3969_3971delinsAC (p.Leu1324ArgfsTer8)
c.4101_4103delinsAC (p.Leu1368ArgfsTer8)
n.244_246delinsAC
n.392_394delinsAC
n.893_895delinsAC
n.227_229delinsAC
n.366-60_366-58delinsAC
c.3966_3968delinsAC (p.Leu1323ArgfsTer8)
n.4262_4264delinsAC
2g.71611468C>ACA347228387DYSFc.1477C>A (p.Leu493Met)
c.694C>A (p.Leu232Met)
c.652C>A (p.Leu218Met)
c.4009C>A (p.Leu1337Met)
c.4063C>A (p.Leu1355Met)
c.4012C>A (p.Leu1338Met)
c.4060C>A (p.Leu1354Met)
c.4105C>A (p.Leu1369Met)
c.3970C>A (p.Leu1324Met)
c.4102C>A (p.Leu1368Met)
n.245C>A
n.393C>A
n.894C>A
n.228C>A
n.366-59C>A
c.3967C>A (p.Leu1323Met)
n.4263C>A
2g.71611468C>GCA347228388DYSFc.1477C>G (p.Leu493Val)
c.694C>G (p.Leu232Val)
c.652C>G (p.Leu218Val)
c.4009C>G (p.Leu1337Val)
c.4063C>G (p.Leu1355Val)
c.4012C>G (p.Leu1338Val)
c.4060C>G (p.Leu1354Val)
c.4105C>G (p.Leu1369Val)
c.3970C>G (p.Leu1324Val)
c.4102C>G (p.Leu1368Val)
n.245C>G
n.393C>G
n.894C>G
n.228C>G
n.366-59C>G
c.3967C>G (p.Leu1323Val)
n.4263C>G
 gnomAD v4 COSMIC COSMIC
2g.71611468C>TCA426758802DYSFc.1477C>T (p.Leu493=)
c.694C>T (p.Leu232=)
c.652C>T (p.Leu218=)
c.4009C>T (p.Leu1337=)
c.4063C>T (p.Leu1355=)
c.4012C>T (p.Leu1338=)
c.4060C>T (p.Leu1354=)
c.4105C>T (p.Leu1369=)
c.3970C>T (p.Leu1324=)
c.4102C>T (p.Leu1368=)
n.245C>T
n.393C>T
n.894C>T
n.228C>T
n.366-59C>T
c.3967C>T (p.Leu1323=)
n.4263C>T
 ClinVar dbSNP gnomAD v4
2g.71611469delCA2573320690DYSFc.1478del (p.Leu493ArgfsTer8)
c.695del (p.Leu232ArgfsTer8)
c.653del (p.Leu218ArgfsTer8)
c.4010del (p.Leu1337ArgfsTer8)
c.4064del (p.Leu1355ArgfsTer8)
c.4013del (p.Leu1338ArgfsTer8)
c.4061del (p.Leu1354ArgfsTer8)
c.4106del (p.Leu1369ArgfsTer8)
c.3971del (p.Leu1324ArgfsTer8)
c.4103del (p.Leu1368ArgfsTer8)
n.246del
n.394del
n.895del
n.229del
n.366-58del
c.3968del (p.Leu1323ArgfsTer8)
n.4264del
2g.71611469T>ACA347228389DYSFc.1478T>A (p.Leu493Gln)
c.695T>A (p.Leu232Gln)
c.653T>A (p.Leu218Gln)
c.4010T>A (p.Leu1337Gln)
c.4064T>A (p.Leu1355Gln)
c.4013T>A (p.Leu1338Gln)
c.4061T>A (p.Leu1354Gln)
c.4106T>A (p.Leu1369Gln)
c.3971T>A (p.Leu1324Gln)
c.4103T>A (p.Leu1368Gln)
n.246T>A
n.394T>A
n.895T>A
n.229T>A
n.366-58T>A
c.3968T>A (p.Leu1323Gln)
n.4264T>A
2g.71611469T>CCA347228390DYSFc.1478T>C (p.Leu493Pro)
c.695T>C (p.Leu232Pro)
c.653T>C (p.Leu218Pro)
c.4010T>C (p.Leu1337Pro)
c.4064T>C (p.Leu1355Pro)
c.4013T>C (p.Leu1338Pro)
c.4061T>C (p.Leu1354Pro)
c.4106T>C (p.Leu1369Pro)
c.3971T>C (p.Leu1324Pro)
c.4103T>C (p.Leu1368Pro)
n.246T>C
n.394T>C
n.895T>C
n.229T>C
n.366-58T>C
c.3968T>C (p.Leu1323Pro)
n.4264T>C
2g.71611469T>GCA347228391DYSFc.1478T>G (p.Leu493Arg)
c.695T>G (p.Leu232Arg)
c.653T>G (p.Leu218Arg)
c.4010T>G (p.Leu1337Arg)
c.4064T>G (p.Leu1355Arg)
c.4013T>G (p.Leu1338Arg)
c.4061T>G (p.Leu1354Arg)
c.4106T>G (p.Leu1369Arg)
c.3971T>G (p.Leu1324Arg)
c.4103T>G (p.Leu1368Arg)
n.246T>G
n.394T>G
n.895T>G
n.229T>G
n.366-58T>G
c.3968T>G (p.Leu1323Arg)
n.4264T>G
2g.71611470G>ACA426758807DYSFc.1479G>A (p.Leu493=)
c.696G>A (p.Leu232=)
c.654G>A (p.Leu218=)
c.4011G>A (p.Leu1337=)
c.4065G>A (p.Leu1355=)
c.4014G>A (p.Leu1338=)
c.4062G>A (p.Leu1354=)
c.4107G>A (p.Leu1369=)
c.3972G>A (p.Leu1324=)
c.4104G>A (p.Leu1368=)
n.247G>A
n.395G>A
n.896G>A
n.230G>A
n.366-57G>A
c.3969G>A (p.Leu1323=)
n.4265G>A
2g.71611470G>CCA426758805DYSFc.1479G>C (p.Leu493=)
c.696G>C (p.Leu232=)
c.654G>C (p.Leu218=)
c.4011G>C (p.Leu1337=)
c.4065G>C (p.Leu1355=)
c.4014G>C (p.Leu1338=)
c.4062G>C (p.Leu1354=)
c.4107G>C (p.Leu1369=)
c.3972G>C (p.Leu1324=)
c.4104G>C (p.Leu1368=)
n.247G>C
n.395G>C
n.896G>C
n.230G>C
n.366-57G>C
c.3969G>C (p.Leu1323=)
n.4265G>C
2g.71611470G>TCA426758803DYSFc.1479G>T (p.Leu493=)
c.696G>T (p.Leu232=)
c.654G>T (p.Leu218=)
c.4011G>T (p.Leu1337=)
c.4065G>T (p.Leu1355=)
c.4014G>T (p.Leu1338=)
c.4062G>T (p.Leu1354=)
c.4107G>T (p.Leu1369=)
c.3972G>T (p.Leu1324=)
c.4104G>T (p.Leu1368=)
n.247G>T
n.395G>T
n.896G>T
n.230G>T
n.366-57G>T
c.3969G>T (p.Leu1323=)
n.4265G>T
2g.71611471delCA2586969506DYSFc.1480del (p.Ala494HisfsTer7)
c.697del (p.Ala233HisfsTer7)
c.655del (p.Ala219HisfsTer7)
c.4012del (p.Ala1338HisfsTer7)
c.4066del (p.Ala1356HisfsTer7)
c.4015del (p.Ala1339HisfsTer7)
c.4063del (p.Ala1355HisfsTer7)
c.4108del (p.Ala1370HisfsTer7)
c.3973del (p.Ala1325HisfsTer7)
c.4105del (p.Ala1369HisfsTer7)
n.248del
n.396del
n.897del
n.231del
n.366-56del
c.3970del (p.Ala1324HisfsTer7)
n.4266del
2g.71611471G>ACA347228394DYSFc.1480G>A (p.Ala494Thr)
c.697G>A (p.Ala233Thr)
c.655G>A (p.Ala219Thr)
c.4012G>A (p.Ala1338Thr)
c.4066G>A (p.Ala1356Thr)
c.4015G>A (p.Ala1339Thr)
c.4063G>A (p.Ala1355Thr)
c.4108G>A (p.Ala1370Thr)
c.3973G>A (p.Ala1325Thr)
c.4105G>A (p.Ala1369Thr)
n.248G>A
n.396G>A
n.897G>A
n.231G>A
n.366-56G>A
c.3970G>A (p.Ala1324Thr)
n.4266G>A
2g.71611471G>CCA347228392DYSFc.1480G>C (p.Ala494Pro)
c.697G>C (p.Ala233Pro)
c.655G>C (p.Ala219Pro)
c.4012G>C (p.Ala1338Pro)
c.4066G>C (p.Ala1356Pro)
c.4015G>C (p.Ala1339Pro)
c.4063G>C (p.Ala1355Pro)
c.4108G>C (p.Ala1370Pro)
c.3973G>C (p.Ala1325Pro)
c.4105G>C (p.Ala1369Pro)
n.248G>C
n.396G>C
n.897G>C
n.231G>C
n.366-56G>C
c.3970G>C (p.Ala1324Pro)
n.4266G>C
2g.71611471G>TCA347228393DYSFc.1480G>T (p.Ala494Ser)
c.697G>T (p.Ala233Ser)
c.655G>T (p.Ala219Ser)
c.4012G>T (p.Ala1338Ser)
c.4066G>T (p.Ala1356Ser)
c.4015G>T (p.Ala1339Ser)
c.4063G>T (p.Ala1355Ser)
c.4108G>T (p.Ala1370Ser)
c.3973G>T (p.Ala1325Ser)
c.4105G>T (p.Ala1369Ser)
n.248G>T
n.396G>T
n.897G>T
n.231G>T
n.366-56G>T
c.3970G>T (p.Ala1324Ser)
n.4266G>T
2g.71611472C>ACA347228395DYSFc.1481C>A (p.Ala494Glu)
c.698C>A (p.Ala233Glu)
c.656C>A (p.Ala219Glu)
c.4013C>A (p.Ala1338Glu)
c.4067C>A (p.Ala1356Glu)
c.4016C>A (p.Ala1339Glu)
c.4064C>A (p.Ala1355Glu)
c.4109C>A (p.Ala1370Glu)
c.3974C>A (p.Ala1325Glu)
c.4106C>A (p.Ala1369Glu)
n.249C>A
n.397C>A
n.898C>A
n.232C>A
n.366-55C>A
c.3971C>A (p.Ala1324Glu)
n.4267C>A
2g.71611472C=CA1260124124DYSFc.1481C= (p.Ala494=)
c.698C= (p.Ala233=)
c.656C= (p.Ala219=)
c.4013C= (p.Ala1338=)
c.4067C= (p.Ala1356=)
c.4016C= (p.Ala1339=)
c.4064C= (p.Ala1355=)
c.4109C= (p.Ala1370=)
c.3974C= (p.Ala1325=)
c.4106C= (p.Ala1369=)
n.249C=
n.397C=
n.898C=
n.232C=
n.366-55C=
c.3971C= (p.Ala1324=)
n.4267C=
2g.71611472C>GCA347228396DYSFc.1481C>G (p.Ala494Gly)
c.698C>G (p.Ala233Gly)
c.656C>G (p.Ala219Gly)
c.4013C>G (p.Ala1338Gly)
c.4067C>G (p.Ala1356Gly)
c.4016C>G (p.Ala1339Gly)
c.4064C>G (p.Ala1355Gly)
c.4109C>G (p.Ala1370Gly)
c.3974C>G (p.Ala1325Gly)
c.4106C>G (p.Ala1369Gly)
n.249C>G
n.397C>G
n.898C>G
n.232C>G
n.366-55C>G
c.3971C>G (p.Ala1324Gly)
n.4267C>G
2g.71611472C>TCA347228397DYSFc.1481C>T (p.Ala494Val)
c.698C>T (p.Ala233Val)
c.656C>T (p.Ala219Val)
c.4013C>T (p.Ala1338Val)
c.4067C>T (p.Ala1356Val)
c.4016C>T (p.Ala1339Val)
c.4064C>T (p.Ala1355Val)
c.4109C>T (p.Ala1370Val)
c.3974C>T (p.Ala1325Val)
c.4106C>T (p.Ala1369Val)
n.249C>T
n.397C>T
n.898C>T
n.232C>T
n.366-55C>T
c.3971C>T (p.Ala1324Val)
n.4267C>T
 dbSNP gnomAD v3 gnomAD v4
2g.71611473A=CA1260124125DYSFc.1482A= (p.Ala494=)
c.699A= (p.Ala233=)
c.657A= (p.Ala219=)
c.4014A= (p.Ala1338=)
c.4068A= (p.Ala1356=)
c.4017A= (p.Ala1339=)
c.4065A= (p.Ala1355=)
c.4110A= (p.Ala1370=)
c.3975A= (p.Ala1325=)
c.4107A= (p.Ala1369=)
n.250A=
n.398A=
n.899A=
n.233A=
n.366-54A=
c.3972A= (p.Ala1324=)
n.4268A=
2g.71611473A>CCA426758813DYSFc.1482A>C (p.Ala494=)
c.699A>C (p.Ala233=)
c.657A>C (p.Ala219=)
c.4014A>C (p.Ala1338=)
c.4068A>C (p.Ala1356=)
c.4017A>C (p.Ala1339=)
c.4065A>C (p.Ala1355=)
c.4110A>C (p.Ala1370=)
c.3975A>C (p.Ala1325=)
c.4107A>C (p.Ala1369=)
n.250A>C
n.398A>C
n.899A>C
n.233A>C
n.366-54A>C
c.3972A>C (p.Ala1324=)
n.4268A>C
2g.71611473A>GCA426758812DYSFc.1482A>G (p.Ala494=)
c.699A>G (p.Ala233=)
c.657A>G (p.Ala219=)
c.4014A>G (p.Ala1338=)
c.4068A>G (p.Ala1356=)
c.4017A>G (p.Ala1339=)
c.4065A>G (p.Ala1355=)
c.4110A>G (p.Ala1370=)
c.3975A>G (p.Ala1325=)
c.4107A>G (p.Ala1369=)
n.250A>G
n.398A>G
n.899A>G
n.233A>G
n.366-54A>G
c.3972A>G (p.Ala1324=)
n.4268A>G
 dbSNP gnomAD v3 gnomAD v4
2g.71611473A>TCA426758811DYSFc.1482A>T (p.Ala494=)
c.699A>T (p.Ala233=)
c.657A>T (p.Ala219=)
c.4014A>T (p.Ala1338=)
c.4068A>T (p.Ala1356=)
c.4017A>T (p.Ala1339=)
c.4065A>T (p.Ala1355=)
c.4110A>T (p.Ala1370=)
c.3975A>T (p.Ala1325=)
c.4107A>T (p.Ala1369=)
n.250A>T
n.398A>T
n.899A>T
n.233A>T
n.366-54A>T
c.3972A>T (p.Ala1324=)
n.4268A>T
2g.71611474T>ACA347228398DYSFc.1483T>A (p.Trp495Arg)
c.700T>A (p.Trp234Arg)
c.658T>A (p.Trp220Arg)
c.4015T>A (p.Trp1339Arg)
c.4069T>A (p.Trp1357Arg)
c.4018T>A (p.Trp1340Arg)
c.4066T>A (p.Trp1356Arg)
c.4111T>A (p.Trp1371Arg)
c.3976T>A (p.Trp1326Arg)
c.4108T>A (p.Trp1370Arg)
n.251T>A
n.399T>A
n.900T>A
n.234T>A
n.366-53T>A
c.3973T>A (p.Trp1325Arg)
n.4269T>A
2g.71611474T>CCA1706887DYSFc.1483T>C (p.Trp495Arg)
c.700T>C (p.Trp234Arg)
c.658T>C (p.Trp220Arg)
c.4015T>C (p.Trp1339Arg)
c.4069T>C (p.Trp1357Arg)
c.4018T>C (p.Trp1340Arg)
c.4066T>C (p.Trp1356Arg)
c.4111T>C (p.Trp1371Arg)
c.3976T>C (p.Trp1326Arg)
c.4108T>C (p.Trp1370Arg)
n.251T>C
n.399T>C
n.900T>C
n.234T>C
n.366-53T>C
c.3973T>C (p.Trp1325Arg)
n.4269T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71611474T>GCA347228399DYSFc.1483T>G (p.Trp495Gly)
c.700T>G (p.Trp234Gly)
c.658T>G (p.Trp220Gly)
c.4015T>G (p.Trp1339Gly)
c.4069T>G (p.Trp1357Gly)
c.4018T>G (p.Trp1340Gly)
c.4066T>G (p.Trp1356Gly)
c.4111T>G (p.Trp1371Gly)
c.3976T>G (p.Trp1326Gly)
c.4108T>G (p.Trp1370Gly)
n.251T>G
n.399T>G
n.900T>G
n.234T>G
n.366-53T>G
c.3973T>G (p.Trp1325Gly)
n.4269T>G
2g.71611474T=CA1260124126DYSFc.1483T= (p.Trp495=)
c.700T= (p.Trp234=)
c.658T= (p.Trp220=)
c.4015T= (p.Trp1339=)
c.4069T= (p.Trp1357=)
c.4018T= (p.Trp1340=)
c.4066T= (p.Trp1356=)
c.4111T= (p.Trp1371=)
c.3976T= (p.Trp1326=)
c.4108T= (p.Trp1370=)
n.251T=
n.399T=
n.900T=
n.234T=
n.366-53T=
c.3973T= (p.Trp1325=)
n.4269T=
2g.71611475G>ACA347228400DYSFc.1484G>A (p.Trp495Ter)
c.701G>A (p.Trp234Ter)
c.659G>A (p.Trp220Ter)
c.4016G>A (p.Trp1339Ter)
c.4070G>A (p.Trp1357Ter)
c.4019G>A (p.Trp1340Ter)
c.4067G>A (p.Trp1356Ter)
c.4112G>A (p.Trp1371Ter)
c.3977G>A (p.Trp1326Ter)
c.4109G>A (p.Trp1370Ter)
n.252G>A
n.400G>A
n.901G>A
n.235G>A
n.366-52G>A
c.3974G>A (p.Trp1325Ter)
n.4270G>A
2g.71611475G>CCA347228401DYSFc.1484G>C (p.Trp495Ser)
c.701G>C (p.Trp234Ser)
c.659G>C (p.Trp220Ser)
c.4016G>C (p.Trp1339Ser)
c.4070G>C (p.Trp1357Ser)
c.4019G>C (p.Trp1340Ser)
c.4067G>C (p.Trp1356Ser)
c.4112G>C (p.Trp1371Ser)
c.3977G>C (p.Trp1326Ser)
c.4109G>C (p.Trp1370Ser)
n.252G>C
n.400G>C
n.901G>C
n.235G>C
n.366-52G>C
c.3974G>C (p.Trp1325Ser)
n.4270G>C
2g.71611475G>TCA347228402DYSFc.1484G>T (p.Trp495Leu)
c.701G>T (p.Trp234Leu)
c.659G>T (p.Trp220Leu)
c.4016G>T (p.Trp1339Leu)
c.4070G>T (p.Trp1357Leu)
c.4019G>T (p.Trp1340Leu)
c.4067G>T (p.Trp1356Leu)
c.4112G>T (p.Trp1371Leu)
c.3977G>T (p.Trp1326Leu)
c.4109G>T (p.Trp1370Leu)
n.252G>T
n.400G>T
n.901G>T
n.235G>T
n.366-52G>T
c.3974G>T (p.Trp1325Leu)
n.4270G>T
2g.71611476G>ACA347228403DYSFc.1485G>A (p.Trp495Ter)
c.702G>A (p.Trp234Ter)
c.660G>A (p.Trp220Ter)
c.4017G>A (p.Trp1339Ter)
c.4071G>A (p.Trp1357Ter)
c.4020G>A (p.Trp1340Ter)
c.4068G>A (p.Trp1356Ter)
c.4113G>A (p.Trp1371Ter)
c.3978G>A (p.Trp1326Ter)
c.4110G>A (p.Trp1370Ter)
n.253G>A
n.401G>A
n.902G>A
n.236G>A
n.366-51G>A
c.3975G>A (p.Trp1325Ter)
n.4271G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71611476G>CCA347228404DYSFc.1485G>C (p.Trp495Cys)
c.702G>C (p.Trp234Cys)
c.660G>C (p.Trp220Cys)
c.4017G>C (p.Trp1339Cys)
c.4071G>C (p.Trp1357Cys)
c.4020G>C (p.Trp1340Cys)
c.4068G>C (p.Trp1356Cys)
c.4113G>C (p.Trp1371Cys)
c.3978G>C (p.Trp1326Cys)
c.4110G>C (p.Trp1370Cys)
n.253G>C
n.401G>C
n.902G>C
n.236G>C
n.366-51G>C
c.3975G>C (p.Trp1325Cys)
n.4271G>C
 gnomAD v4
2g.71611476G=CA1260124127DYSFc.1485G= (p.Trp495=)
c.702G= (p.Trp234=)
c.660G= (p.Trp220=)
c.4017G= (p.Trp1339=)
c.4071G= (p.Trp1357=)
c.4020G= (p.Trp1340=)
c.4068G= (p.Trp1356=)
c.4113G= (p.Trp1371=)
c.3978G= (p.Trp1326=)
c.4110G= (p.Trp1370=)
n.253G=
n.401G=
n.902G=
n.236G=
n.366-51G=
c.3975G= (p.Trp1325=)
n.4271G=
2g.71611476G>TCA347228405DYSFc.1485G>T (p.Trp495Cys)
c.702G>T (p.Trp234Cys)
c.660G>T (p.Trp220Cys)
c.4017G>T (p.Trp1339Cys)
c.4071G>T (p.Trp1357Cys)
c.4020G>T (p.Trp1340Cys)
c.4068G>T (p.Trp1356Cys)
c.4113G>T (p.Trp1371Cys)
c.3978G>T (p.Trp1326Cys)
c.4110G>T (p.Trp1370Cys)
n.253G>T
n.401G>T
n.902G>T
n.236G>T
n.366-51G>T
c.3975G>T (p.Trp1325Cys)
n.4271G>T
2g.71611477G>ACA347228407DYSFc.1486G>A (p.Gly496Ser)
c.703G>A (p.Gly235Ser)
c.661G>A (p.Gly221Ser)
c.4018G>A (p.Gly1340Ser)
c.4072G>A (p.Gly1358Ser)
c.4021G>A (p.Gly1341Ser)
c.4069G>A (p.Gly1357Ser)
c.4114G>A (p.Gly1372Ser)
c.3979G>A (p.Gly1327Ser)
c.4111G>A (p.Gly1371Ser)
n.254G>A
n.402G>A
n.903G>A
n.237G>A
n.366-50G>A
c.3976G>A (p.Gly1326Ser)
n.4272G>A
 gnomAD v4
2g.71611477G>CCA347228408DYSFc.1486G>C (p.Gly496Arg)
c.703G>C (p.Gly235Arg)
c.661G>C (p.Gly221Arg)
c.4018G>C (p.Gly1340Arg)
c.4072G>C (p.Gly1358Arg)
c.4021G>C (p.Gly1341Arg)
c.4069G>C (p.Gly1357Arg)
c.4114G>C (p.Gly1372Arg)
c.3979G>C (p.Gly1327Arg)
c.4111G>C (p.Gly1371Arg)
n.254G>C
n.402G>C
n.903G>C
n.237G>C
n.366-50G>C
c.3976G>C (p.Gly1326Arg)
n.4272G>C
2g.71611477G>TCA347228406DYSFc.1486G>T (p.Gly496Cys)
c.703G>T (p.Gly235Cys)
c.661G>T (p.Gly221Cys)
c.4018G>T (p.Gly1340Cys)
c.4072G>T (p.Gly1358Cys)
c.4021G>T (p.Gly1341Cys)
c.4069G>T (p.Gly1357Cys)
c.4114G>T (p.Gly1372Cys)
c.3979G>T (p.Gly1327Cys)
c.4111G>T (p.Gly1371Cys)
n.254G>T
n.402G>T
n.903G>T
n.237G>T
n.366-50G>T
c.3976G>T (p.Gly1326Cys)
n.4272G>T
2g.71611478G>ACA347228409DYSFc.1487G>A (p.Gly496Asp)
c.704G>A (p.Gly235Asp)
c.662G>A (p.Gly221Asp)
c.4019G>A (p.Gly1340Asp)
c.4073G>A (p.Gly1358Asp)
c.4022G>A (p.Gly1341Asp)
c.4070G>A (p.Gly1357Asp)
c.4115G>A (p.Gly1372Asp)
c.3980G>A (p.Gly1327Asp)
c.4112G>A (p.Gly1371Asp)
n.255G>A
n.403G>A
n.904G>A
n.238G>A
n.366-49G>A
c.3977G>A (p.Gly1326Asp)
n.4273G>A
2g.71611478G>CCA347228410DYSFc.1487G>C (p.Gly496Ala)
c.704G>C (p.Gly235Ala)
c.662G>C (p.Gly221Ala)
c.4019G>C (p.Gly1340Ala)
c.4073G>C (p.Gly1358Ala)
c.4022G>C (p.Gly1341Ala)
c.4070G>C (p.Gly1357Ala)
c.4115G>C (p.Gly1372Ala)
c.3980G>C (p.Gly1327Ala)
c.4112G>C (p.Gly1371Ala)
n.255G>C
n.403G>C
n.904G>C
n.238G>C
n.366-49G>C
c.3977G>C (p.Gly1326Ala)
n.4273G>C
2g.71611478G>TCA347228411DYSFc.1487G>T (p.Gly496Val)
c.704G>T (p.Gly235Val)
c.662G>T (p.Gly221Val)
c.4019G>T (p.Gly1340Val)
c.4073G>T (p.Gly1358Val)
c.4022G>T (p.Gly1341Val)
c.4070G>T (p.Gly1357Val)
c.4115G>T (p.Gly1372Val)
c.3980G>T (p.Gly1327Val)
c.4112G>T (p.Gly1371Val)
n.255G>T
n.403G>T
n.904G>T
n.238G>T
n.366-49G>T
c.3977G>T (p.Gly1326Val)
n.4273G>T
2g.71611479C>ACA426758819DYSFc.1488C>A (p.Gly496=)
c.705C>A (p.Gly235=)
c.663C>A (p.Gly221=)
c.4020C>A (p.Gly1340=)
c.4074C>A (p.Gly1358=)
c.4023C>A (p.Gly1341=)
c.4071C>A (p.Gly1357=)
c.4116C>A (p.Gly1372=)
c.3981C>A (p.Gly1327=)
c.4113C>A (p.Gly1371=)
n.256C>A
n.404C>A
n.905C>A
n.239C>A
n.366-48C>A
c.3978C>A (p.Gly1326=)
n.4274C>A
2g.71611479C=CA1260124128DYSFc.1488C= (p.Gly496=)
c.705C= (p.Gly235=)
c.663C= (p.Gly221=)
c.4020C= (p.Gly1340=)
c.4074C= (p.Gly1358=)
c.4023C= (p.Gly1341=)
c.4071C= (p.Gly1357=)
c.4116C= (p.Gly1372=)
c.3981C= (p.Gly1327=)
c.4113C= (p.Gly1371=)
n.256C=
n.404C=
n.905C=
n.239C=
n.366-48C=
c.3978C= (p.Gly1326=)
n.4274C=
2g.71611479C>GCA426758820DYSFc.1488C>G (p.Gly496=)
c.705C>G (p.Gly235=)
c.663C>G (p.Gly221=)
c.4020C>G (p.Gly1340=)
c.4074C>G (p.Gly1358=)
c.4023C>G (p.Gly1341=)
c.4071C>G (p.Gly1357=)
c.4116C>G (p.Gly1372=)
c.3981C>G (p.Gly1327=)
c.4113C>G (p.Gly1371=)
n.256C>G
n.404C>G
n.905C>G
n.239C>G
n.366-48C>G
c.3978C>G (p.Gly1326=)
n.4274C>G
2g.71611479C>TCA426758821DYSFc.1488C>T (p.Gly496=)
c.705C>T (p.Gly235=)
c.663C>T (p.Gly221=)
c.4020C>T (p.Gly1340=)
c.4074C>T (p.Gly1358=)
c.4023C>T (p.Gly1341=)
c.4071C>T (p.Gly1357=)
c.4116C>T (p.Gly1372=)
c.3981C>T (p.Gly1327=)
c.4113C>T (p.Gly1371=)
n.256C>T
n.404C>T
n.905C>T
n.239C>T
n.366-48C>T
c.3978C>T (p.Gly1326=)
n.4274C>T
 dbSNP gnomAD v2 gnomAD v4
2g.71611480C>ACA347228412DYSFc.1489C>A (p.Leu497Met)
c.706C>A (p.Leu236Met)
c.664C>A (p.Leu222Met)
c.4021C>A (p.Leu1341Met)
c.4075C>A (p.Leu1359Met)
c.4024C>A (p.Leu1342Met)
c.4072C>A (p.Leu1358Met)
c.4117C>A (p.Leu1373Met)
c.3982C>A (p.Leu1328Met)
c.4114C>A (p.Leu1372Met)
n.257C>A
n.405C>A
n.906C>A
n.240C>A
n.366-47C>A
c.3979C>A (p.Leu1327Met)
n.4275C>A
 COSMIC COSMIC
2g.71611480C>GCA347228413DYSFc.1489C>G (p.Leu497Val)
c.706C>G (p.Leu236Val)
c.664C>G (p.Leu222Val)
c.4021C>G (p.Leu1341Val)
c.4075C>G (p.Leu1359Val)
c.4024C>G (p.Leu1342Val)
c.4072C>G (p.Leu1358Val)
c.4117C>G (p.Leu1373Val)
c.3982C>G (p.Leu1328Val)
c.4114C>G (p.Leu1372Val)
n.257C>G
n.405C>G
n.906C>G
n.240C>G
n.366-47C>G
c.3979C>G (p.Leu1327Val)
n.4275C>G
2g.71611480C>TCA426758822DYSFc.1489C>T (p.Leu497=)
c.706C>T (p.Leu236=)
c.664C>T (p.Leu222=)
c.4021C>T (p.Leu1341=)
c.4075C>T (p.Leu1359=)
c.4024C>T (p.Leu1342=)
c.4072C>T (p.Leu1358=)
c.4117C>T (p.Leu1373=)
c.3982C>T (p.Leu1328=)
c.4114C>T (p.Leu1372=)
n.257C>T
n.405C>T
n.906C>T
n.240C>T
n.366-47C>T
c.3979C>T (p.Leu1327=)
n.4275C>T
 COSMIC COSMIC
2g.71611481T>ACA347228414DYSFc.1490T>A (p.Leu497Gln)
c.707T>A (p.Leu236Gln)
c.665T>A (p.Leu222Gln)
c.4022T>A (p.Leu1341Gln)
c.4076T>A (p.Leu1359Gln)
c.4025T>A (p.Leu1342Gln)
c.4073T>A (p.Leu1358Gln)
c.4118T>A (p.Leu1373Gln)
c.3983T>A (p.Leu1328Gln)
c.4115T>A (p.Leu1372Gln)
n.258T>A
n.406T>A
n.907T>A
n.241T>A
n.366-46T>A
c.3980T>A (p.Leu1327Gln)
n.4276T>A
2g.71611481T>CCA1706888DYSFc.1490T>C (p.Leu497Pro)
c.707T>C (p.Leu236Pro)
c.665T>C (p.Leu222Pro)
c.4022T>C (p.Leu1341Pro)
c.4076T>C (p.Leu1359Pro)
c.4025T>C (p.Leu1342Pro)
c.4073T>C (p.Leu1358Pro)
c.4118T>C (p.Leu1373Pro)
c.3983T>C (p.Leu1328Pro)
c.4115T>C (p.Leu1372Pro)
n.258T>C
n.406T>C
n.907T>C
n.241T>C
n.366-46T>C
c.3980T>C (p.Leu1327Pro)
n.4276T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71611481T>GCA347228415DYSFc.1490T>G (p.Leu497Arg)
c.707T>G (p.Leu236Arg)
c.665T>G (p.Leu222Arg)
c.4022T>G (p.Leu1341Arg)
c.4076T>G (p.Leu1359Arg)
c.4025T>G (p.Leu1342Arg)
c.4073T>G (p.Leu1358Arg)
c.4118T>G (p.Leu1373Arg)
c.3983T>G (p.Leu1328Arg)
c.4115T>G (p.Leu1372Arg)
n.258T>G
n.406T>G
n.907T>G
n.241T>G
n.366-46T>G
c.3980T>G (p.Leu1327Arg)
n.4276T>G
2g.71611481T=CA1260124129DYSFc.1490T= (p.Leu497=)
c.707T= (p.Leu236=)
c.665T= (p.Leu222=)
c.4022T= (p.Leu1341=)
c.4076T= (p.Leu1359=)
c.4025T= (p.Leu1342=)
c.4073T= (p.Leu1358=)
c.4118T= (p.Leu1373=)
c.3983T= (p.Leu1328=)
c.4115T= (p.Leu1372=)
n.258T=
n.406T=
n.907T=
n.241T=
n.366-46T=
c.3980T= (p.Leu1327=)
n.4276T=
2g.71611482G>ACA426758824DYSFc.1491G>A (p.Leu497=)
c.708G>A (p.Leu236=)
c.666G>A (p.Leu222=)
c.4023G>A (p.Leu1341=)
c.4077G>A (p.Leu1359=)
c.4026G>A (p.Leu1342=)
c.4074G>A (p.Leu1358=)
c.4119G>A (p.Leu1373=)
c.3984G>A (p.Leu1328=)
c.4116G>A (p.Leu1372=)
n.259G>A
n.407G>A
n.908G>A
n.242G>A
n.366-45G>A
c.3981G>A (p.Leu1327=)
n.4277G>A
 ClinVar dbSNP gnomAD v4
2g.71611482G>CCA426758825DYSFc.1491G>C (p.Leu497=)
c.708G>C (p.Leu236=)
c.666G>C (p.Leu222=)
c.4023G>C (p.Leu1341=)
c.4077G>C (p.Leu1359=)
c.4026G>C (p.Leu1342=)
c.4074G>C (p.Leu1358=)
c.4119G>C (p.Leu1373=)
c.3984G>C (p.Leu1328=)
c.4116G>C (p.Leu1372=)
n.259G>C
n.407G>C
n.908G>C
n.242G>C
n.366-45G>C
c.3981G>C (p.Leu1327=)
n.4277G>C
2g.71611482G=CA1260124130DYSFc.1491G= (p.Leu497=)
c.708G= (p.Leu236=)
c.666G= (p.Leu222=)
c.4023G= (p.Leu1341=)
c.4077G= (p.Leu1359=)
c.4026G= (p.Leu1342=)
c.4074G= (p.Leu1358=)
c.4119G= (p.Leu1373=)
c.3984G= (p.Leu1328=)
c.4116G= (p.Leu1372=)
n.259G=
n.407G=
n.908G=
n.242G=
n.366-45G=
c.3981G= (p.Leu1327=)
n.4277G=
2g.71611482G>TCA426758828DYSFc.1491G>T (p.Leu497=)
c.708G>T (p.Leu236=)
c.666G>T (p.Leu222=)
c.4023G>T (p.Leu1341=)
c.4077G>T (p.Leu1359=)
c.4026G>T (p.Leu1342=)
c.4074G>T (p.Leu1358=)
c.4119G>T (p.Leu1373=)
c.3984G>T (p.Leu1328=)
c.4116G>T (p.Leu1372=)
n.259G>T
n.407G>T
n.908G>T
n.242G>T
n.366-45G>T
c.3981G>T (p.Leu1327=)
n.4277G>T
2g.71611483C>ACA426758831DYSFc.1492C>A (p.Arg498=)
c.709C>A (p.Arg237=)
c.667C>A (p.Arg223=)
c.4024C>A (p.Arg1342=)
c.4078C>A (p.Arg1360=)
c.4027C>A (p.Arg1343=)
c.4075C>A (p.Arg1359=)
c.4120C>A (p.Arg1374=)
c.3985C>A (p.Arg1329=)
c.4117C>A (p.Arg1373=)
n.260C>A
n.408C>A
n.909C>A
n.243C>A
n.366-44C>A
c.3982C>A (p.Arg1328=)
n.4278C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.71611483C=CA1260124131DYSFc.1492C= (p.Arg498=)
c.709C= (p.Arg237=)
c.667C= (p.Arg223=)
c.4024C= (p.Arg1342=)
c.4078C= (p.Arg1360=)
c.4027C= (p.Arg1343=)
c.4075C= (p.Arg1359=)
c.4120C= (p.Arg1374=)
c.3985C= (p.Arg1329=)
c.4117C= (p.Arg1373=)
n.260C=
n.408C=
n.909C=
n.243C=
n.366-44C=
c.3982C= (p.Arg1328=)
n.4278C=
2g.71611483C>GCA347228416DYSFc.1492C>G (p.Arg498Gly)
c.709C>G (p.Arg237Gly)
c.667C>G (p.Arg223Gly)
c.4024C>G (p.Arg1342Gly)
c.4078C>G (p.Arg1360Gly)
c.4027C>G (p.Arg1343Gly)
c.4075C>G (p.Arg1359Gly)
c.4120C>G (p.Arg1374Gly)
c.3985C>G (p.Arg1329Gly)
c.4117C>G (p.Arg1373Gly)
n.260C>G
n.408C>G
n.909C>G
n.243C>G
n.366-44C>G
c.3982C>G (p.Arg1328Gly)
n.4278C>G
 ClinVar gnomAD v4
2g.71611483C>TCA1706889DYSFc.1492C>T (p.Arg498Trp)
c.709C>T (p.Arg237Trp)
c.667C>T (p.Arg223Trp)
c.4024C>T (p.Arg1342Trp)
c.4078C>T (p.Arg1360Trp)
c.4027C>T (p.Arg1343Trp)
c.4075C>T (p.Arg1359Trp)
c.4120C>T (p.Arg1374Trp)
c.3985C>T (p.Arg1329Trp)
c.4117C>T (p.Arg1373Trp)
n.260C>T
n.408C>T
n.909C>T
n.243C>T
n.366-44C>T
c.3982C>T (p.Arg1328Trp)
n.4278C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71611484G>ACA1706890DYSFc.1493G>A (p.Arg498Gln)
c.710G>A (p.Arg237Gln)
c.668G>A (p.Arg223Gln)
c.4025G>A (p.Arg1342Gln)
c.4079G>A (p.Arg1360Gln)
c.4028G>A (p.Arg1343Gln)
c.4076G>A (p.Arg1359Gln)
c.4121G>A (p.Arg1374Gln)
c.3986G>A (p.Arg1329Gln)
c.4118G>A (p.Arg1373Gln)
n.261G>A
n.409G>A
n.910G>A
n.244G>A
n.366-43G>A
c.3983G>A (p.Arg1328Gln)
n.4279G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71611484G>CCA347228417DYSFc.1493G>C (p.Arg498Pro)
c.710G>C (p.Arg237Pro)
c.668G>C (p.Arg223Pro)
c.4025G>C (p.Arg1342Pro)
c.4079G>C (p.Arg1360Pro)
c.4028G>C (p.Arg1343Pro)
c.4076G>C (p.Arg1359Pro)
c.4121G>C (p.Arg1374Pro)
c.3986G>C (p.Arg1329Pro)
c.4118G>C (p.Arg1373Pro)
n.261G>C
n.409G>C
n.910G>C
n.244G>C
n.366-43G>C
c.3983G>C (p.Arg1328Pro)
n.4279G>C
2g.71611484G=CA1260124132DYSFc.1493G= (p.Arg498=)
c.710G= (p.Arg237=)
c.668G= (p.Arg223=)
c.4025G= (p.Arg1342=)
c.4079G= (p.Arg1360=)
c.4028G= (p.Arg1343=)
c.4076G= (p.Arg1359=)
c.4121G= (p.Arg1374=)
c.3986G= (p.Arg1329=)
c.4118G= (p.Arg1373=)
n.261G=
n.409G=
n.910G=
n.244G=
n.366-43G=
c.3983G= (p.Arg1328=)
n.4279G=
2g.71611484G>TCA347228418DYSFc.1493G>T (p.Arg498Leu)
c.710G>T (p.Arg237Leu)
c.668G>T (p.Arg223Leu)
c.4025G>T (p.Arg1342Leu)
c.4079G>T (p.Arg1360Leu)
c.4028G>T (p.Arg1343Leu)
c.4076G>T (p.Arg1359Leu)
c.4121G>T (p.Arg1374Leu)
c.3986G>T (p.Arg1329Leu)
c.4118G>T (p.Arg1373Leu)
n.261G>T
n.409G>T
n.910G>T
n.244G>T
n.366-43G>T
c.3983G>T (p.Arg1328Leu)
n.4279G>T
2g.71611485G>ACA426758833DYSFc.1494G>A (p.Arg498=)
c.711G>A (p.Arg237=)
c.669G>A (p.Arg223=)
c.4026G>A (p.Arg1342=)
c.4080G>A (p.Arg1360=)
c.4029G>A (p.Arg1343=)
c.4077G>A (p.Arg1359=)
c.4122G>A (p.Arg1374=)
c.3987G>A (p.Arg1329=)
c.4119G>A (p.Arg1373=)
n.262G>A
n.410G>A
n.911G>A
n.245G>A
n.366-42G>A
c.3984G>A (p.Arg1328=)
n.4280G>A
2g.71611485G>CCA426758834DYSFc.1494G>C (p.Arg498=)
c.711G>C (p.Arg237=)
c.669G>C (p.Arg223=)
c.4026G>C (p.Arg1342=)
c.4080G>C (p.Arg1360=)
c.4029G>C (p.Arg1343=)
c.4077G>C (p.Arg1359=)
c.4122G>C (p.Arg1374=)
c.3987G>C (p.Arg1329=)
c.4119G>C (p.Arg1373=)
n.262G>C
n.410G>C
n.911G>C
n.245G>C
n.366-42G>C
c.3984G>C (p.Arg1328=)
n.4280G>C
2g.71611485G>TCA426758836DYSFc.1494G>T (p.Arg498=)
c.711G>T (p.Arg237=)
c.669G>T (p.Arg223=)
c.4026G>T (p.Arg1342=)
c.4080G>T (p.Arg1360=)
c.4029G>T (p.Arg1343=)
c.4077G>T (p.Arg1359=)
c.4122G>T (p.Arg1374=)
c.3987G>T (p.Arg1329=)
c.4119G>T (p.Arg1373=)
n.262G>T
n.410G>T
n.911G>T
n.245G>T
n.366-42G>T
c.3984G>T (p.Arg1328=)
n.4280G>T
2g.71611486A>CCA347228420DYSFc.1495A>C (p.Asn499His)
c.712A>C (p.Asn238His)
c.670A>C (p.Asn224His)
c.4027A>C (p.Asn1343His)
c.4081A>C (p.Asn1361His)
c.4030A>C (p.Asn1344His)
c.4078A>C (p.Asn1360His)
c.4123A>C (p.Asn1375His)
c.3988A>C (p.Asn1330His)
c.4120A>C (p.Asn1374His)
n.263A>C
n.411A>C
n.912A>C
n.246A>C
n.366-41A>C
c.3985A>C (p.Asn1329His)
n.4281A>C
2g.71611486A>GCA347228421DYSFc.1495A>G (p.Asn499Asp)
c.712A>G (p.Asn238Asp)
c.670A>G (p.Asn224Asp)
c.4027A>G (p.Asn1343Asp)
c.4081A>G (p.Asn1361Asp)
c.4030A>G (p.Asn1344Asp)
c.4078A>G (p.Asn1360Asp)
c.4123A>G (p.Asn1375Asp)
c.3988A>G (p.Asn1330Asp)
c.4120A>G (p.Asn1374Asp)
n.263A>G
n.411A>G
n.912A>G
n.246A>G
n.366-41A>G
c.3985A>G (p.Asn1329Asp)
n.4281A>G
2g.71611486A>TCA347228419DYSFc.1495A>T (p.Asn499Tyr)
c.712A>T (p.Asn238Tyr)
c.670A>T (p.Asn224Tyr)
c.4027A>T (p.Asn1343Tyr)
c.4081A>T (p.Asn1361Tyr)
c.4030A>T (p.Asn1344Tyr)
c.4078A>T (p.Asn1360Tyr)
c.4123A>T (p.Asn1375Tyr)
c.3988A>T (p.Asn1330Tyr)
c.4120A>T (p.Asn1374Tyr)
n.263A>T
n.411A>T
n.912A>T
n.246A>T
n.366-41A>T
c.3985A>T (p.Asn1329Tyr)
n.4281A>T
2g.71611487A>CCA347228422DYSFc.1496A>C (p.Asn499Thr)
c.713A>C (p.Asn238Thr)
c.671A>C (p.Asn224Thr)
c.4028A>C (p.Asn1343Thr)
c.4082A>C (p.Asn1361Thr)
c.4031A>C (p.Asn1344Thr)
c.4079A>C (p.Asn1360Thr)
c.4124A>C (p.Asn1375Thr)
c.3989A>C (p.Asn1330Thr)
c.4121A>C (p.Asn1374Thr)
n.264A>C
n.412A>C
n.913A>C
n.247A>C
n.366-40A>C
c.3986A>C (p.Asn1329Thr)
n.4282A>C
2g.71611487A>GCA347228423DYSFc.1496A>G (p.Asn499Ser)
c.713A>G (p.Asn238Ser)
c.671A>G (p.Asn224Ser)
c.4028A>G (p.Asn1343Ser)
c.4082A>G (p.Asn1361Ser)
c.4031A>G (p.Asn1344Ser)
c.4079A>G (p.Asn1360Ser)
c.4124A>G (p.Asn1375Ser)
c.3989A>G (p.Asn1330Ser)
c.4121A>G (p.Asn1374Ser)
n.264A>G
n.412A>G
n.913A>G
n.247A>G
n.366-40A>G
c.3986A>G (p.Asn1329Ser)
n.4282A>G
2g.71611487A>TCA347228424DYSFc.1496A>T (p.Asn499Ile)
c.713A>T (p.Asn238Ile)
c.671A>T (p.Asn224Ile)
c.4028A>T (p.Asn1343Ile)
c.4082A>T (p.Asn1361Ile)
c.4031A>T (p.Asn1344Ile)
c.4079A>T (p.Asn1360Ile)
c.4124A>T (p.Asn1375Ile)
c.3989A>T (p.Asn1330Ile)
c.4121A>T (p.Asn1374Ile)
n.264A>T
n.412A>T
n.913A>T
n.247A>T
n.366-40A>T
c.3986A>T (p.Asn1329Ile)
n.4282A>T
2g.71611488C>ACA347228425DYSFc.1497C>A (p.Asn499Lys)
c.714C>A (p.Asn238Lys)
c.672C>A (p.Asn224Lys)
c.4029C>A (p.Asn1343Lys)
c.4083C>A (p.Asn1361Lys)
c.4032C>A (p.Asn1344Lys)
c.4080C>A (p.Asn1360Lys)
c.4125C>A (p.Asn1375Lys)
c.3990C>A (p.Asn1330Lys)
c.4122C>A (p.Asn1374Lys)
n.265C>A
n.413C>A
n.914C>A
n.248C>A
n.366-39C>A
c.3987C>A (p.Asn1329Lys)
n.4283C>A
 gnomAD v4
2g.71611488C>GCA347228426DYSFc.1497C>G (p.Asn499Lys)
c.714C>G (p.Asn238Lys)
c.672C>G (p.Asn224Lys)
c.4029C>G (p.Asn1343Lys)
c.4083C>G (p.Asn1361Lys)
c.4032C>G (p.Asn1344Lys)
c.4080C>G (p.Asn1360Lys)
c.4125C>G (p.Asn1375Lys)
c.3990C>G (p.Asn1330Lys)
c.4122C>G (p.Asn1374Lys)
n.265C>G
n.413C>G
n.914C>G
n.248C>G
n.366-39C>G
c.3987C>G (p.Asn1329Lys)
n.4283C>G
 gnomAD v4
2g.71611488C>TCA426758843DYSFc.1497C>T (p.Asn499=)
c.714C>T (p.Asn238=)
c.672C>T (p.Asn224=)
c.4029C>T (p.Asn1343=)
c.4083C>T (p.Asn1361=)
c.4032C>T (p.Asn1344=)
c.4080C>T (p.Asn1360=)
c.4125C>T (p.Asn1375=)
c.3990C>T (p.Asn1330=)
c.4122C>T (p.Asn1374=)
n.265C>T
n.413C>T
n.914C>T
n.248C>T
n.366-39C>T
c.3987C>T (p.Asn1329=)
n.4283C>T
 gnomAD v4
2g.71611489A>CCA347228429DYSFc.1498A>C (p.Met500Leu)
c.715A>C (p.Met239Leu)
c.673A>C (p.Met225Leu)
c.4030A>C (p.Met1344Leu)
c.4084A>C (p.Met1362Leu)
c.4033A>C (p.Met1345Leu)
c.4081A>C (p.Met1361Leu)
c.4126A>C (p.Met1376Leu)
c.3991A>C (p.Met1331Leu)
c.4123A>C (p.Met1375Leu)
n.266A>C
n.414A>C
n.915A>C
n.249A>C
n.366-38A>C
c.3988A>C (p.Met1330Leu)
n.4284A>C
2g.71611489A>GCA347228428DYSFc.1498A>G (p.Met500Val)
c.715A>G (p.Met239Val)
c.673A>G (p.Met225Val)
c.4030A>G (p.Met1344Val)
c.4084A>G (p.Met1362Val)
c.4033A>G (p.Met1345Val)
c.4081A>G (p.Met1361Val)
c.4126A>G (p.Met1376Val)
c.3991A>G (p.Met1331Val)
c.4123A>G (p.Met1375Val)
n.266A>G
n.414A>G
n.915A>G
n.249A>G
n.366-38A>G
c.3988A>G (p.Met1330Val)
n.4284A>G
2g.71611489A>TCA347228427DYSFc.1498A>T (p.Met500Leu)
c.715A>T (p.Met239Leu)
c.673A>T (p.Met225Leu)
c.4030A>T (p.Met1344Leu)
c.4084A>T (p.Met1362Leu)
c.4033A>T (p.Met1345Leu)
c.4081A>T (p.Met1361Leu)
c.4126A>T (p.Met1376Leu)
c.3991A>T (p.Met1331Leu)
c.4123A>T (p.Met1375Leu)
n.266A>T
n.414A>T
n.915A>T
n.249A>T
n.366-38A>T
c.3988A>T (p.Met1330Leu)
n.4284A>T
2g.71611490T>ACA347228430DYSFc.1499T>A (p.Met500Lys)
c.716T>A (p.Met239Lys)
c.674T>A (p.Met225Lys)
c.4031T>A (p.Met1344Lys)
c.4085T>A (p.Met1362Lys)
c.4034T>A (p.Met1345Lys)
c.4082T>A (p.Met1361Lys)
c.4127T>A (p.Met1376Lys)
c.3992T>A (p.Met1331Lys)
c.4124T>A (p.Met1375Lys)
n.267T>A
n.415T>A
n.916T>A
n.250T>A
n.366-37T>A
c.3989T>A (p.Met1330Lys)
n.4285T>A
2g.71611490T>CCA347228431DYSFc.1499T>C (p.Met500Thr)
c.716T>C (p.Met239Thr)
c.674T>C (p.Met225Thr)
c.4031T>C (p.Met1344Thr)
c.4085T>C (p.Met1362Thr)
c.4034T>C (p.Met1345Thr)
c.4082T>C (p.Met1361Thr)
c.4127T>C (p.Met1376Thr)
c.3992T>C (p.Met1331Thr)
c.4124T>C (p.Met1375Thr)
n.267T>C
n.415T>C
n.916T>C
n.250T>C
n.366-37T>C
c.3989T>C (p.Met1330Thr)
n.4285T>C
2g.71611490T>GCA347228432DYSFc.1499T>G (p.Met500Arg)
c.716T>G (p.Met239Arg)
c.674T>G (p.Met225Arg)
c.4031T>G (p.Met1344Arg)
c.4085T>G (p.Met1362Arg)
c.4034T>G (p.Met1345Arg)
c.4082T>G (p.Met1361Arg)
c.4127T>G (p.Met1376Arg)
c.3992T>G (p.Met1331Arg)
c.4124T>G (p.Met1375Arg)
n.267T>G
n.415T>G
n.916T>G
n.250T>G
n.366-37T>G
c.3989T>G (p.Met1330Arg)
n.4285T>G
2g.71611491G>ACA347228433DYSFc.1500G>A (p.Met500Ile)
c.717G>A (p.Met239Ile)
c.675G>A (p.Met225Ile)
c.4032G>A (p.Met1344Ile)
c.4086G>A (p.Met1362Ile)
c.4035G>A (p.Met1345Ile)
c.4083G>A (p.Met1361Ile)
c.4128G>A (p.Met1376Ile)
c.3993G>A (p.Met1331Ile)
c.4125G>A (p.Met1375Ile)
n.268G>A
n.416G>A
n.917G>A
n.251G>A
n.366-36G>A
c.3990G>A (p.Met1330Ile)
n.4286G>A
2g.71611491G>CCA347228434DYSFc.1500G>C (p.Met500Ile)
c.717G>C (p.Met239Ile)
c.675G>C (p.Met225Ile)
c.4032G>C (p.Met1344Ile)
c.4086G>C (p.Met1362Ile)
c.4035G>C (p.Met1345Ile)
c.4083G>C (p.Met1361Ile)
c.4128G>C (p.Met1376Ile)
c.3993G>C (p.Met1331Ile)
c.4125G>C (p.Met1375Ile)
n.268G>C
n.416G>C
n.917G>C
n.251G>C
n.366-36G>C
c.3990G>C (p.Met1330Ile)
n.4286G>C
 ClinVar dbSNP gnomAD v4
2g.71611491G>TCA347228435DYSFc.1500G>T (p.Met500Ile)
c.717G>T (p.Met239Ile)
c.675G>T (p.Met225Ile)
c.4032G>T (p.Met1344Ile)
c.4086G>T (p.Met1362Ile)
c.4035G>T (p.Met1345Ile)
c.4083G>T (p.Met1361Ile)
c.4128G>T (p.Met1376Ile)
c.3993G>T (p.Met1331Ile)
c.4125G>T (p.Met1375Ile)
n.268G>T
n.416G>T
n.917G>T
n.251G>T
n.366-36G>T
c.3990G>T (p.Met1330Ile)
n.4286G>T
 gnomAD v4
2g.71611492A>CCA347228436DYSFc.1501A>C (p.Lys501Gln)
c.718A>C (p.Lys240Gln)
c.676A>C (p.Lys226Gln)
c.4033A>C (p.Lys1345Gln)
c.4087A>C (p.Lys1363Gln)
c.4036A>C (p.Lys1346Gln)
c.4084A>C (p.Lys1362Gln)
c.4129A>C (p.Lys1377Gln)
c.3994A>C (p.Lys1332Gln)
c.4126A>C (p.Lys1376Gln)
n.269A>C
n.417A>C
n.918A>C
n.252A>C
n.366-35A>C
c.3991A>C (p.Lys1331Gln)
n.4287A>C
2g.71611492A>GCA347228438DYSFc.1501A>G (p.Lys501Glu)
c.718A>G (p.Lys240Glu)
c.676A>G (p.Lys226Glu)
c.4033A>G (p.Lys1345Glu)
c.4087A>G (p.Lys1363Glu)
c.4036A>G (p.Lys1346Glu)
c.4084A>G (p.Lys1362Glu)
c.4129A>G (p.Lys1377Glu)
c.3994A>G (p.Lys1332Glu)
c.4126A>G (p.Lys1376Glu)
n.269A>G
n.417A>G
n.918A>G
n.252A>G
n.366-35A>G
c.3991A>G (p.Lys1331Glu)
n.4287A>G
2g.71611492A>TCA347228437DYSFc.1501A>T (p.Lys501Ter)
c.718A>T (p.Lys240Ter)
c.676A>T (p.Lys226Ter)
c.4033A>T (p.Lys1345Ter)
c.4087A>T (p.Lys1363Ter)
c.4036A>T (p.Lys1346Ter)
c.4084A>T (p.Lys1362Ter)
c.4129A>T (p.Lys1377Ter)
c.3994A>T (p.Lys1332Ter)
c.4126A>T (p.Lys1376Ter)
n.269A>T
n.417A>T
n.918A>T
n.252A>T
n.366-35A>T
c.3991A>T (p.Lys1331Ter)
n.4287A>T
2g.71611493A>CCA347228439DYSFc.1502A>C (p.Lys501Thr)
c.719A>C (p.Lys240Thr)
c.677A>C (p.Lys226Thr)
c.4034A>C (p.Lys1345Thr)
c.4088A>C (p.Lys1363Thr)
c.4037A>C (p.Lys1346Thr)
c.4085A>C (p.Lys1362Thr)
c.4130A>C (p.Lys1377Thr)
c.3995A>C (p.Lys1332Thr)
c.4127A>C (p.Lys1376Thr)
n.270A>C
n.418A>C
n.919A>C
n.253A>C
n.366-34A>C
c.3992A>C (p.Lys1331Thr)
n.4288A>C
2g.71611493A>GCA347228441DYSFc.1502A>G (p.Lys501Arg)
c.719A>G (p.Lys240Arg)
c.677A>G (p.Lys226Arg)
c.4034A>G (p.Lys1345Arg)
c.4088A>G (p.Lys1363Arg)
c.4037A>G (p.Lys1346Arg)
c.4085A>G (p.Lys1362Arg)
c.4130A>G (p.Lys1377Arg)
c.3995A>G (p.Lys1332Arg)
c.4127A>G (p.Lys1376Arg)
n.270A>G
n.418A>G
n.919A>G
n.253A>G
n.366-34A>G
c.3992A>G (p.Lys1331Arg)
n.4288A>G
2g.71611493A>TCA347228440DYSFc.1502A>T (p.Lys501Met)
c.719A>T (p.Lys240Met)
c.677A>T (p.Lys226Met)
c.4034A>T (p.Lys1345Met)
c.4088A>T (p.Lys1363Met)
c.4037A>T (p.Lys1346Met)
c.4085A>T (p.Lys1362Met)
c.4130A>T (p.Lys1377Met)
c.3995A>T (p.Lys1332Met)
c.4127A>T (p.Lys1376Met)
n.270A>T
n.418A>T
n.919A>T
n.253A>T
n.366-34A>T
c.3992A>T (p.Lys1331Met)
n.4288A>T
2g.71611494G>ACA49778944DYSFc.1503G>A (p.Lys501=)
c.720G>A (p.Lys240=)
c.678G>A (p.Lys226=)
c.4035G>A (p.Lys1345=)
c.4089G>A (p.Lys1363=)
c.4038G>A (p.Lys1346=)
c.4086G>A (p.Lys1362=)
c.4131G>A (p.Lys1377=)
c.3996G>A (p.Lys1332=)
c.4128G>A (p.Lys1376=)
n.271G>A
n.419G>A
n.920G>A
n.254G>A
n.366-33G>A
c.3993G>A (p.Lys1331=)
n.4289G>A
 ClinVar dbSNP
2g.71611494G>CCA347228443DYSFc.1503G>C (p.Lys501Asn)
c.720G>C (p.Lys240Asn)
c.678G>C (p.Lys226Asn)
c.4035G>C (p.Lys1345Asn)
c.4089G>C (p.Lys1363Asn)
c.4038G>C (p.Lys1346Asn)
c.4086G>C (p.Lys1362Asn)
c.4131G>C (p.Lys1377Asn)
c.3996G>C (p.Lys1332Asn)
c.4128G>C (p.Lys1376Asn)
n.271G>C
n.419G>C
n.920G>C
n.254G>C
n.366-33G>C
c.3993G>C (p.Lys1331Asn)
n.4289G>C
2g.71611494G=CA1260124133DYSFc.1503G= (p.Lys501=)
c.720G= (p.Lys240=)
c.678G= (p.Lys226=)
c.4035G= (p.Lys1345=)
c.4089G= (p.Lys1363=)
c.4038G= (p.Lys1346=)
c.4086G= (p.Lys1362=)
c.4131G= (p.Lys1377=)
c.3996G= (p.Lys1332=)
c.4128G= (p.Lys1376=)
n.271G=
n.419G=
n.920G=
n.254G=
n.366-33G=
c.3993G= (p.Lys1331=)
n.4289G=
2g.71611494G>TCA347228442DYSFc.1503G>T (p.Lys501Asn)
c.720G>T (p.Lys240Asn)
c.678G>T (p.Lys226Asn)
c.4035G>T (p.Lys1345Asn)
c.4089G>T (p.Lys1363Asn)
c.4038G>T (p.Lys1346Asn)
c.4086G>T (p.Lys1362Asn)
c.4131G>T (p.Lys1377Asn)
c.3996G>T (p.Lys1332Asn)
c.4128G>T (p.Lys1376Asn)
n.271G>T
n.419G>T
n.920G>T
n.254G>T
n.366-33G>T
c.3993G>T (p.Lys1331Asn)
n.4289G>T
2g.71611495A>CCA347228444DYSFc.1504A>C (p.Ser502Arg)
c.721A>C (p.Ser241Arg)
c.679A>C (p.Ser227Arg)
c.4036A>C (p.Ser1346Arg)
c.4090A>C (p.Ser1364Arg)
c.4039A>C (p.Ser1347Arg)
c.4087A>C (p.Ser1363Arg)
c.4132A>C (p.Ser1378Arg)
c.3997A>C (p.Ser1333Arg)
c.4129A>C (p.Ser1377Arg)
n.272A>C
n.420A>C
n.921A>C
n.255A>C
n.366-32A>C
c.3994A>C (p.Ser1332Arg)
n.4290A>C
 gnomAD v4
2g.71611495A>GCA347228446DYSFc.1504A>G (p.Ser502Gly)
c.721A>G (p.Ser241Gly)
c.679A>G (p.Ser227Gly)
c.4036A>G (p.Ser1346Gly)
c.4090A>G (p.Ser1364Gly)
c.4039A>G (p.Ser1347Gly)
c.4087A>G (p.Ser1363Gly)
c.4132A>G (p.Ser1378Gly)
c.3997A>G (p.Ser1333Gly)
c.4129A>G (p.Ser1377Gly)
n.272A>G
n.420A>G
n.921A>G
n.255A>G
n.366-32A>G
c.3994A>G (p.Ser1332Gly)
n.4290A>G
 gnomAD v4
2g.71611495A>TCA347228445DYSFc.1504A>T (p.Ser502Cys)
c.721A>T (p.Ser241Cys)
c.679A>T (p.Ser227Cys)
c.4036A>T (p.Ser1346Cys)
c.4090A>T (p.Ser1364Cys)
c.4039A>T (p.Ser1347Cys)
c.4087A>T (p.Ser1363Cys)
c.4132A>T (p.Ser1378Cys)
c.3997A>T (p.Ser1333Cys)
c.4129A>T (p.Ser1377Cys)
n.272A>T
n.420A>T
n.921A>T
n.255A>T
n.366-32A>T
c.3994A>T (p.Ser1332Cys)
n.4290A>T
 gnomAD v4
2g.71611496G>ACA347228447DYSFc.1505G>A (p.Ser502Asn)
c.722G>A (p.Ser241Asn)
c.680G>A (p.Ser227Asn)
c.4037G>A (p.Ser1346Asn)
c.4091G>A (p.Ser1364Asn)
c.4040G>A (p.Ser1347Asn)
c.4088G>A (p.Ser1363Asn)
c.4133G>A (p.Ser1378Asn)
c.3998G>A (p.Ser1333Asn)
c.4130G>A (p.Ser1377Asn)
n.273G>A
n.421G>A
n.922G>A
n.256G>A
n.366-31G>A
c.3995G>A (p.Ser1332Asn)
n.4291G>A
2g.71611496G>CCA347228448DYSFc.1505G>C (p.Ser502Thr)
c.722G>C (p.Ser241Thr)
c.680G>C (p.Ser227Thr)
c.4037G>C (p.Ser1346Thr)
c.4091G>C (p.Ser1364Thr)
c.4040G>C (p.Ser1347Thr)
c.4088G>C (p.Ser1363Thr)
c.4133G>C (p.Ser1378Thr)
c.3998G>C (p.Ser1333Thr)
c.4130G>C (p.Ser1377Thr)
n.273G>C
n.421G>C
n.922G>C
n.256G>C
n.366-31G>C
c.3995G>C (p.Ser1332Thr)
n.4291G>C
2g.71611496G>TCA347228449DYSFc.1505G>T (p.Ser502Ile)
c.722G>T (p.Ser241Ile)
c.680G>T (p.Ser227Ile)
c.4037G>T (p.Ser1346Ile)
c.4091G>T (p.Ser1364Ile)
c.4040G>T (p.Ser1347Ile)
c.4088G>T (p.Ser1363Ile)
c.4133G>T (p.Ser1378Ile)
c.3998G>T (p.Ser1333Ile)
c.4130G>T (p.Ser1377Ile)
n.273G>T
n.421G>T
n.922G>T
n.256G>T
n.366-31G>T
c.3995G>T (p.Ser1332Ile)
n.4291G>T
2g.71611497T>ACA347228450DYSFc.1506T>A (p.Ser502Arg)
c.723T>A (p.Ser241Arg)
c.681T>A (p.Ser227Arg)
c.4038T>A (p.Ser1346Arg)
c.4092T>A (p.Ser1364Arg)
c.4041T>A (p.Ser1347Arg)
c.4089T>A (p.Ser1363Arg)
c.4134T>A (p.Ser1378Arg)
c.3999T>A (p.Ser1333Arg)
c.4131T>A (p.Ser1377Arg)
n.274T>A
n.422T>A
n.923T>A
n.257T>A
n.366-30T>A
c.3996T>A (p.Ser1332Arg)
n.4292T>A
2g.71611497T>CCA426758857DYSFc.1506T>C (p.Ser502=)
c.723T>C (p.Ser241=)
c.681T>C (p.Ser227=)
c.4038T>C (p.Ser1346=)
c.4092T>C (p.Ser1364=)
c.4041T>C (p.Ser1347=)
c.4089T>C (p.Ser1363=)
c.4134T>C (p.Ser1378=)
c.3999T>C (p.Ser1333=)
c.4131T>C (p.Ser1377=)
n.274T>C
n.422T>C
n.923T>C
n.257T>C
n.366-30T>C
c.3996T>C (p.Ser1332=)
n.4292T>C
 dbSNP gnomAD v3 gnomAD v4
2g.71611497T>GCA347228451DYSFc.1506T>G (p.Ser502Arg)
c.723T>G (p.Ser241Arg)
c.681T>G (p.Ser227Arg)
c.4038T>G (p.Ser1346Arg)
c.4092T>G (p.Ser1364Arg)
c.4041T>G (p.Ser1347Arg)
c.4089T>G (p.Ser1363Arg)
c.4134T>G (p.Ser1378Arg)
c.3999T>G (p.Ser1333Arg)
c.4131T>G (p.Ser1377Arg)
n.274T>G
n.422T>G
n.923T>G
n.257T>G
n.366-30T>G
c.3996T>G (p.Ser1332Arg)
n.4292T>G
2g.71611497T=CA1260124134DYSFc.1506T= (p.Ser502=)
c.723T= (p.Ser241=)
c.681T= (p.Ser227=)
c.4038T= (p.Ser1346=)
c.4092T= (p.Ser1364=)
c.4041T= (p.Ser1347=)
c.4089T= (p.Ser1363=)
c.4134T= (p.Ser1378=)
c.3999T= (p.Ser1333=)
c.4131T= (p.Ser1377=)
n.274T=
n.422T=
n.923T=
n.257T=
n.366-30T=
c.3996T= (p.Ser1332=)
n.4292T=
2g.71611498T>ACA347228452DYSFc.1507T>A (p.Tyr503Asn)
c.724T>A (p.Tyr242Asn)
c.682T>A (p.Tyr228Asn)
c.4039T>A (p.Tyr1347Asn)
c.4093T>A (p.Tyr1365Asn)
c.4042T>A (p.Tyr1348Asn)
c.4090T>A (p.Tyr1364Asn)
c.4135T>A (p.Tyr1379Asn)
c.4000T>A (p.Tyr1334Asn)
c.4132T>A (p.Tyr1378Asn)
n.275T>A
n.423T>A
n.924T>A
n.258T>A
n.366-29T>A
c.3997T>A (p.Tyr1333Asn)
n.4293T>A
2g.71611498T>CCA347228453DYSFc.1507T>C (p.Tyr503His)
c.724T>C (p.Tyr242His)
c.682T>C (p.Tyr228His)
c.4039T>C (p.Tyr1347His)
c.4093T>C (p.Tyr1365His)
c.4042T>C (p.Tyr1348His)
c.4090T>C (p.Tyr1364His)
c.4135T>C (p.Tyr1379His)
c.4000T>C (p.Tyr1334His)
c.4132T>C (p.Tyr1378His)
n.275T>C
n.423T>C
n.924T>C
n.258T>C
n.366-29T>C
c.3997T>C (p.Tyr1333His)
n.4293T>C
2g.71611498T>GCA1706891DYSFc.1507T>G (p.Tyr503Asp)
c.724T>G (p.Tyr242Asp)
c.682T>G (p.Tyr228Asp)
c.4039T>G (p.Tyr1347Asp)
c.4093T>G (p.Tyr1365Asp)
c.4042T>G (p.Tyr1348Asp)
c.4090T>G (p.Tyr1364Asp)
c.4135T>G (p.Tyr1379Asp)
c.4000T>G (p.Tyr1334Asp)
c.4132T>G (p.Tyr1378Asp)
n.275T>G
n.423T>G
n.924T>G
n.258T>G
n.366-29T>G
c.3997T>G (p.Tyr1333Asp)
n.4293T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71611498T=CA1260124135DYSFc.1507T= (p.Tyr503=)
c.724T= (p.Tyr242=)
c.682T= (p.Tyr228=)
c.4039T= (p.Tyr1347=)
c.4093T= (p.Tyr1365=)
c.4042T= (p.Tyr1348=)
c.4090T= (p.Tyr1364=)
c.4135T= (p.Tyr1379=)
c.4000T= (p.Tyr1334=)
c.4132T= (p.Tyr1378=)
n.275T=
n.423T=
n.924T=
n.258T=
n.366-29T=
c.3997T= (p.Tyr1333=)
n.4293T=
2g.71611499A>CCA347228454DYSFc.1508A>C (p.Tyr503Ser)
c.725A>C (p.Tyr242Ser)
c.683A>C (p.Tyr228Ser)
c.4040A>C (p.Tyr1347Ser)
c.4094A>C (p.Tyr1365Ser)
c.4043A>C (p.Tyr1348Ser)
c.4091A>C (p.Tyr1364Ser)
c.4136A>C (p.Tyr1379Ser)
c.4001A>C (p.Tyr1334Ser)
c.4133A>C (p.Tyr1378Ser)
n.276A>C
n.424A>C
n.925A>C
n.259A>C
n.366-28A>C
c.3998A>C (p.Tyr1333Ser)
n.4294A>C
2g.71611499A>GCA347228455DYSFc.1508A>G (p.Tyr503Cys)
c.725A>G (p.Tyr242Cys)
c.683A>G (p.Tyr228Cys)
c.4040A>G (p.Tyr1347Cys)
c.4094A>G (p.Tyr1365Cys)
c.4043A>G (p.Tyr1348Cys)
c.4091A>G (p.Tyr1364Cys)
c.4136A>G (p.Tyr1379Cys)
c.4001A>G (p.Tyr1334Cys)
c.4133A>G (p.Tyr1378Cys)
n.276A>G
n.424A>G
n.925A>G
n.259A>G
n.366-28A>G
c.3998A>G (p.Tyr1333Cys)
n.4294A>G
2g.71611499A>TCA347228456DYSFc.1508A>T (p.Tyr503Phe)
c.725A>T (p.Tyr242Phe)
c.683A>T (p.Tyr228Phe)
c.4040A>T (p.Tyr1347Phe)
c.4094A>T (p.Tyr1365Phe)
c.4043A>T (p.Tyr1348Phe)
c.4091A>T (p.Tyr1364Phe)
c.4136A>T (p.Tyr1379Phe)
c.4001A>T (p.Tyr1334Phe)
c.4133A>T (p.Tyr1378Phe)
n.276A>T
n.424A>T
n.925A>T
n.259A>T
n.366-28A>T
c.3998A>T (p.Tyr1333Phe)
n.4294A>T
2g.71611500C>ACA347228457DYSFc.1509C>A (p.Tyr503Ter)
c.726C>A (p.Tyr242Ter)
c.684C>A (p.Tyr228Ter)
c.4041C>A (p.Tyr1347Ter)
c.4095C>A (p.Tyr1365Ter)
c.4044C>A (p.Tyr1348Ter)
c.4092C>A (p.Tyr1364Ter)
c.4137C>A (p.Tyr1379Ter)
c.4002C>A (p.Tyr1334Ter)
c.4134C>A (p.Tyr1378Ter)
n.277C>A
n.425C>A
n.926C>A
n.260C>A
n.366-27C>A
c.3999C>A (p.Tyr1333Ter)
n.4295C>A
 dbSNP gnomAD v2
2g.71611500C=CA1260124136DYSFc.1509C= (p.Tyr503=)
c.726C= (p.Tyr242=)
c.684C= (p.Tyr228=)
c.4041C= (p.Tyr1347=)
c.4095C= (p.Tyr1365=)
c.4044C= (p.Tyr1348=)
c.4092C= (p.Tyr1364=)
c.4137C= (p.Tyr1379=)
c.4002C= (p.Tyr1334=)
c.4134C= (p.Tyr1378=)
n.277C=
n.425C=
n.926C=
n.260C=
n.366-27C=
c.3999C= (p.Tyr1333=)
n.4295C=
2g.71611500C>GCA347228458DYSFc.1509C>G (p.Tyr503Ter)
c.726C>G (p.Tyr242Ter)
c.684C>G (p.Tyr228Ter)
c.4041C>G (p.Tyr1347Ter)
c.4095C>G (p.Tyr1365Ter)
c.4044C>G (p.Tyr1348Ter)
c.4092C>G (p.Tyr1364Ter)
c.4137C>G (p.Tyr1379Ter)
c.4002C>G (p.Tyr1334Ter)
c.4134C>G (p.Tyr1378Ter)
n.277C>G
n.425C>G
n.926C>G
n.260C>G
n.366-27C>G
c.3999C>G (p.Tyr1333Ter)
n.4295C>G
2g.71611500C>TCA426758864DYSFc.1509C>T (p.Tyr503=)
c.726C>T (p.Tyr242=)
c.684C>T (p.Tyr228=)
c.4041C>T (p.Tyr1347=)
c.4095C>T (p.Tyr1365=)
c.4044C>T (p.Tyr1348=)
c.4092C>T (p.Tyr1364=)
c.4137C>T (p.Tyr1379=)
c.4002C>T (p.Tyr1334=)
c.4134C>T (p.Tyr1378=)
n.277C>T
n.425C>T
n.926C>T
n.260C>T
n.366-27C>T
c.3999C>T (p.Tyr1333=)
n.4295C>T
 dbSNP
2g.71611501C>ACA347228459DYSFc.1510C>A (p.Gln504Lys)
c.727C>A (p.Gln243Lys)
c.685C>A (p.Gln229Lys)
c.4042C>A (p.Gln1348Lys)
c.4096C>A (p.Gln1366Lys)
c.4045C>A (p.Gln1349Lys)
c.4093C>A (p.Gln1365Lys)
c.4138C>A (p.Gln1380Lys)
c.4003C>A (p.Gln1335Lys)
c.4135C>A (p.Gln1379Lys)
n.278C>A
n.426C>A
n.927C>A
n.261C>A
n.366-26C>A
c.4000C>A (p.Gln1334Lys)
n.4296C>A
2g.71611501C>GCA347228460DYSFc.1510C>G (p.Gln504Glu)
c.727C>G (p.Gln243Glu)
c.685C>G (p.Gln229Glu)
c.4042C>G (p.Gln1348Glu)
c.4096C>G (p.Gln1366Glu)
c.4045C>G (p.Gln1349Glu)
c.4093C>G (p.Gln1365Glu)
c.4138C>G (p.Gln1380Glu)
c.4003C>G (p.Gln1335Glu)
c.4135C>G (p.Gln1379Glu)
n.278C>G
n.426C>G
n.927C>G
n.261C>G
n.366-26C>G
c.4000C>G (p.Gln1334Glu)
n.4296C>G
2g.71611501C>TCA347228461DYSFc.1510C>T (p.Gln504Ter)
c.727C>T (p.Gln243Ter)
c.685C>T (p.Gln229Ter)
c.4042C>T (p.Gln1348Ter)
c.4096C>T (p.Gln1366Ter)
c.4045C>T (p.Gln1349Ter)
c.4093C>T (p.Gln1365Ter)
c.4138C>T (p.Gln1380Ter)
c.4003C>T (p.Gln1335Ter)
c.4135C>T (p.Gln1379Ter)
n.278C>T
n.426C>T
n.927C>T
n.261C>T
n.366-26C>T
c.4000C>T (p.Gln1334Ter)
n.4296C>T
2g.71611502A>CCA347228462DYSFc.1511A>C (p.Gln504Pro)
c.728A>C (p.Gln243Pro)
c.686A>C (p.Gln229Pro)
c.4043A>C (p.Gln1348Pro)
c.4097A>C (p.Gln1366Pro)
c.4046A>C (p.Gln1349Pro)
c.4094A>C (p.Gln1365Pro)
c.4139A>C (p.Gln1380Pro)
c.4004A>C (p.Gln1335Pro)
c.4136A>C (p.Gln1379Pro)
n.279A>C
n.427A>C
n.928A>C
n.262A>C
n.366-25A>C
c.4001A>C (p.Gln1334Pro)
n.4297A>C
2g.71611502A>GCA347228463DYSFc.1511A>G (p.Gln504Arg)
c.728A>G (p.Gln243Arg)
c.686A>G (p.Gln229Arg)
c.4043A>G (p.Gln1348Arg)
c.4097A>G (p.Gln1366Arg)
c.4046A>G (p.Gln1349Arg)
c.4094A>G (p.Gln1365Arg)
c.4139A>G (p.Gln1380Arg)
c.4004A>G (p.Gln1335Arg)
c.4136A>G (p.Gln1379Arg)
n.279A>G
n.427A>G
n.928A>G
n.262A>G
n.366-25A>G
c.4001A>G (p.Gln1334Arg)
n.4297A>G
 gnomAD v4
2g.71611502A>TCA347228464DYSFc.1511A>T (p.Gln504Leu)
c.728A>T (p.Gln243Leu)
c.686A>T (p.Gln229Leu)
c.4043A>T (p.Gln1348Leu)
c.4097A>T (p.Gln1366Leu)
c.4046A>T (p.Gln1349Leu)
c.4094A>T (p.Gln1365Leu)
c.4139A>T (p.Gln1380Leu)
c.4004A>T (p.Gln1335Leu)
c.4136A>T (p.Gln1379Leu)
n.279A>T
n.427A>T
n.928A>T
n.262A>T
n.366-25A>T
c.4001A>T (p.Gln1334Leu)
n.4297A>T
2g.71611503G>ACA426758869DYSFc.1512G>A (p.Gln504=)
c.729G>A (p.Gln243=)
c.687G>A (p.Gln229=)
c.4044G>A (p.Gln1348=)
c.4098G>A (p.Gln1366=)
c.4047G>A (p.Gln1349=)
c.4095G>A (p.Gln1365=)
c.4140G>A (p.Gln1380=)
c.4005G>A (p.Gln1335=)
c.4137G>A (p.Gln1379=)
n.280G>A
n.428G>A
n.929G>A
n.263G>A
n.366-24G>A
c.4002G>A (p.Gln1334=)
n.4298G>A
2g.71611503G>CCA347228465DYSFc.1512G>C (p.Gln504His)
c.729G>C (p.Gln243His)
c.687G>C (p.Gln229His)
c.4044G>C (p.Gln1348His)
c.4098G>C (p.Gln1366His)
c.4047G>C (p.Gln1349His)
c.4095G>C (p.Gln1365His)
c.4140G>C (p.Gln1380His)
c.4005G>C (p.Gln1335His)
c.4137G>C (p.Gln1379His)
n.280G>C
n.428G>C
n.929G>C
n.263G>C
n.366-24G>C
c.4002G>C (p.Gln1334His)
n.4298G>C
2g.71611503G>TCA347228466DYSFc.1512G>T (p.Gln504His)
c.729G>T (p.Gln243His)
c.687G>T (p.Gln229His)
c.4044G>T (p.Gln1348His)
c.4098G>T (p.Gln1366His)
c.4047G>T (p.Gln1349His)
c.4095G>T (p.Gln1365His)
c.4140G>T (p.Gln1380His)
c.4005G>T (p.Gln1335His)
c.4137G>T (p.Gln1379His)
n.280G>T
n.428G>T
n.929G>T
n.263G>T
n.366-24G>T
c.4002G>T (p.Gln1334His)
n.4298G>T
2g.71611504C>ACA347228467DYSFc.1513C>A (p.Leu505Met)
c.730C>A (p.Leu244Met)
c.688C>A (p.Leu230Met)
c.4045C>A (p.Leu1349Met)
c.4099C>A (p.Leu1367Met)
c.4048C>A (p.Leu1350Met)
c.4096C>A (p.Leu1366Met)
c.4141C>A (p.Leu1381Met)
c.4006C>A (p.Leu1336Met)
c.4138C>A (p.Leu1380Met)
n.281C>A
n.429C>A
n.930C>A
n.264C>A
n.366-23C>A
c.4003C>A (p.Leu1335Met)
n.4299C>A
2g.71611504C>GCA347228468DYSFc.1513C>G (p.Leu505Val)
c.730C>G (p.Leu244Val)
c.688C>G (p.Leu230Val)
c.4045C>G (p.Leu1349Val)
c.4099C>G (p.Leu1367Val)
c.4048C>G (p.Leu1350Val)
c.4096C>G (p.Leu1366Val)
c.4141C>G (p.Leu1381Val)
c.4006C>G (p.Leu1336Val)
c.4138C>G (p.Leu1380Val)
n.281C>G
n.429C>G
n.930C>G
n.264C>G
n.366-23C>G
c.4003C>G (p.Leu1335Val)
n.4299C>G
 COSMIC
2g.71611504C>TCA426758870DYSFc.1513C>T (p.Leu505=)
c.730C>T (p.Leu244=)
c.688C>T (p.Leu230=)
c.4045C>T (p.Leu1349=)
c.4099C>T (p.Leu1367=)
c.4048C>T (p.Leu1350=)
c.4096C>T (p.Leu1366=)
c.4141C>T (p.Leu1381=)
c.4006C>T (p.Leu1336=)
c.4138C>T (p.Leu1380=)
n.281C>T
n.429C>T
n.930C>T
n.264C>T
n.366-23C>T
c.4003C>T (p.Leu1335=)
n.4299C>T
2g.71611505T>ACA347228470DYSFc.1514T>A (p.Leu505Gln)
c.731T>A (p.Leu244Gln)
c.689T>A (p.Leu230Gln)
c.4046T>A (p.Leu1349Gln)
c.4100T>A (p.Leu1367Gln)
c.4049T>A (p.Leu1350Gln)
c.4097T>A (p.Leu1366Gln)
c.4142T>A (p.Leu1381Gln)
c.4007T>A (p.Leu1336Gln)
c.4139T>A (p.Leu1380Gln)
n.282T>A
n.430T>A
n.931T>A
n.265T>A
n.366-22T>A
c.4004T>A (p.Leu1335Gln)
n.4300T>A
2g.71611505T>CCA347228471DYSFc.1514T>C (p.Leu505Pro)
c.731T>C (p.Leu244Pro)
c.689T>C (p.Leu230Pro)
c.4046T>C (p.Leu1349Pro)
c.4100T>C (p.Leu1367Pro)
c.4049T>C (p.Leu1350Pro)
c.4097T>C (p.Leu1366Pro)
c.4142T>C (p.Leu1381Pro)
c.4007T>C (p.Leu1336Pro)
c.4139T>C (p.Leu1380Pro)
n.282T>C
n.430T>C
n.931T>C
n.265T>C
n.366-22T>C
c.4004T>C (p.Leu1335Pro)
n.4300T>C
2g.71611505T>GCA347228469DYSFc.1514T>G (p.Leu505Arg)
c.731T>G (p.Leu244Arg)
c.689T>G (p.Leu230Arg)
c.4046T>G (p.Leu1349Arg)
c.4100T>G (p.Leu1367Arg)
c.4049T>G (p.Leu1350Arg)
c.4097T>G (p.Leu1366Arg)
c.4142T>G (p.Leu1381Arg)
c.4007T>G (p.Leu1336Arg)
c.4139T>G (p.Leu1380Arg)
n.282T>G
n.430T>G
n.931T>G
n.265T>G
n.366-22T>G
c.4004T>G (p.Leu1335Arg)
n.4300T>G
2g.71611506G>ACA426758871DYSFc.1515G>A (p.Leu505=)
c.732G>A (p.Leu244=)
c.690G>A (p.Leu230=)
c.4047G>A (p.Leu1349=)
c.4101G>A (p.Leu1367=)
c.4050G>A (p.Leu1350=)
c.4098G>A (p.Leu1366=)
c.4143G>A (p.Leu1381=)
c.4008G>A (p.Leu1336=)
c.4140G>A (p.Leu1380=)
n.283G>A
n.431G>A
n.932G>A
n.266G>A
n.366-21G>A
c.4005G>A (p.Leu1335=)
n.4301G>A
2g.71611506G>CCA426758872DYSFc.1515G>C (p.Leu505=)
c.732G>C (p.Leu244=)
c.690G>C (p.Leu230=)
c.4047G>C (p.Leu1349=)
c.4101G>C (p.Leu1367=)
c.4050G>C (p.Leu1350=)
c.4098G>C (p.Leu1366=)
c.4143G>C (p.Leu1381=)
c.4008G>C (p.Leu1336=)
c.4140G>C (p.Leu1380=)
n.283G>C
n.431G>C
n.932G>C
n.266G>C
n.366-21G>C
c.4005G>C (p.Leu1335=)
n.4301G>C
2g.71611506G>TCA426758873DYSFc.1515G>T (p.Leu505=)
c.732G>T (p.Leu244=)
c.690G>T (p.Leu230=)
c.4047G>T (p.Leu1349=)
c.4101G>T (p.Leu1367=)
c.4050G>T (p.Leu1350=)
c.4098G>T (p.Leu1366=)
c.4143G>T (p.Leu1381=)
c.4008G>T (p.Leu1336=)
c.4140G>T (p.Leu1380=)
n.283G>T
n.431G>T
n.932G>T
n.266G>T
n.366-21G>T
c.4005G>T (p.Leu1335=)
n.4301G>T
2g.71611507G>ACA347228472DYSFc.1516G>A (p.Ala506Thr)
c.733G>A (p.Ala245Thr)
c.691G>A (p.Ala231Thr)
c.4048G>A (p.Ala1350Thr)
c.4102G>A (p.Ala1368Thr)
c.4051G>A (p.Ala1351Thr)
c.4099G>A (p.Ala1367Thr)
c.4144G>A (p.Ala1382Thr)
c.4009G>A (p.Ala1337Thr)
c.4141G>A (p.Ala1381Thr)
n.284G>A
n.432G>A
n.933G>A
n.267G>A
n.366-20G>A
c.4006G>A (p.Ala1336Thr)
n.4302G>A
 dbSNP
2g.71611507G>CCA347228473DYSFc.1516G>C (p.Ala506Pro)
c.733G>C (p.Ala245Pro)
c.691G>C (p.Ala231Pro)
c.4048G>C (p.Ala1350Pro)
c.4102G>C (p.Ala1368Pro)
c.4051G>C (p.Ala1351Pro)
c.4099G>C (p.Ala1367Pro)
c.4144G>C (p.Ala1382Pro)
c.4009G>C (p.Ala1337Pro)
c.4141G>C (p.Ala1381Pro)
n.284G>C
n.432G>C
n.933G>C
n.267G>C
n.366-20G>C
c.4006G>C (p.Ala1336Pro)
n.4302G>C
2g.71611507G=CA1260124137DYSFc.1516G= (p.Ala506=)
c.733G= (p.Ala245=)
c.691G= (p.Ala231=)
c.4048G= (p.Ala1350=)
c.4102G= (p.Ala1368=)
c.4051G= (p.Ala1351=)
c.4099G= (p.Ala1367=)
c.4144G= (p.Ala1382=)
c.4009G= (p.Ala1337=)
c.4141G= (p.Ala1381=)
n.284G=
n.432G=
n.933G=
n.267G=
n.366-20G=
c.4006G= (p.Ala1336=)
n.4302G=
2g.71611507G>TCA347228474DYSFc.1516G>T (p.Ala506Ser)
c.733G>T (p.Ala245Ser)
c.691G>T (p.Ala231Ser)
c.4048G>T (p.Ala1350Ser)
c.4102G>T (p.Ala1368Ser)
c.4051G>T (p.Ala1351Ser)
c.4099G>T (p.Ala1367Ser)
c.4144G>T (p.Ala1382Ser)
c.4009G>T (p.Ala1337Ser)
c.4141G>T (p.Ala1381Ser)
n.284G>T
n.432G>T
n.933G>T
n.267G>T
n.366-20G>T
c.4006G>T (p.Ala1336Ser)
n.4302G>T
2g.71611508C>ACA347228475DYSFc.1517C>A (p.Ala506Asp)
c.734C>A (p.Ala245Asp)
c.692C>A (p.Ala231Asp)
c.4049C>A (p.Ala1350Asp)
c.4103C>A (p.Ala1368Asp)
c.4052C>A (p.Ala1351Asp)
c.4100C>A (p.Ala1367Asp)
c.4145C>A (p.Ala1382Asp)
c.4010C>A (p.Ala1337Asp)
c.4142C>A (p.Ala1381Asp)
n.285C>A
n.433C>A
n.934C>A
n.268C>A
n.366-19C>A
c.4007C>A (p.Ala1336Asp)
n.4303C>A
2g.71611508C>GCA347228476DYSFc.1517C>G (p.Ala506Gly)
c.734C>G (p.Ala245Gly)
c.692C>G (p.Ala231Gly)
c.4049C>G (p.Ala1350Gly)
c.4103C>G (p.Ala1368Gly)
c.4052C>G (p.Ala1351Gly)
c.4100C>G (p.Ala1367Gly)
c.4145C>G (p.Ala1382Gly)
c.4010C>G (p.Ala1337Gly)
c.4142C>G (p.Ala1381Gly)
n.285C>G
n.433C>G
n.934C>G
n.268C>G
n.366-19C>G
c.4007C>G (p.Ala1336Gly)
n.4303C>G
2g.71611508C>TCA347228477DYSFc.1517C>T (p.Ala506Val)
c.734C>T (p.Ala245Val)
c.692C>T (p.Ala231Val)
c.4049C>T (p.Ala1350Val)
c.4103C>T (p.Ala1368Val)
c.4052C>T (p.Ala1351Val)
c.4100C>T (p.Ala1367Val)
c.4145C>T (p.Ala1382Val)
c.4010C>T (p.Ala1337Val)
c.4142C>T (p.Ala1381Val)
n.285C>T
n.433C>T
n.934C>T
n.268C>T
n.366-19C>T
c.4007C>T (p.Ala1336Val)
n.4303C>T
 gnomAD v4
2g.71611509C>ACA426758875DYSFc.1518C>A (p.Ala506=)
c.735C>A (p.Ala245=)
c.693C>A (p.Ala231=)
c.4050C>A (p.Ala1350=)
c.4104C>A (p.Ala1368=)
c.4053C>A (p.Ala1351=)
c.4101C>A (p.Ala1367=)
c.4146C>A (p.Ala1382=)
c.4011C>A (p.Ala1337=)
c.4143C>A (p.Ala1381=)
n.286C>A
n.434C>A
n.935C>A
n.269C>A
n.366-18C>A
c.4008C>A (p.Ala1336=)
n.4304C>A
2g.71611509C>GCA426758876DYSFc.1518C>G (p.Ala506=)
c.735C>G (p.Ala245=)
c.693C>G (p.Ala231=)
c.4050C>G (p.Ala1350=)
c.4104C>G (p.Ala1368=)
c.4053C>G (p.Ala1351=)
c.4101C>G (p.Ala1367=)
c.4146C>G (p.Ala1382=)
c.4011C>G (p.Ala1337=)
c.4143C>G (p.Ala1381=)
n.286C>G
n.434C>G
n.935C>G
n.269C>G
n.366-18C>G
c.4008C>G (p.Ala1336=)
n.4304C>G
2g.71611509C>TCA426758877DYSFc.1518C>T (p.Ala506=)
c.735C>T (p.Ala245=)
c.693C>T (p.Ala231=)
c.4050C>T (p.Ala1350=)
c.4104C>T (p.Ala1368=)
c.4053C>T (p.Ala1351=)
c.4101C>T (p.Ala1367=)
c.4146C>T (p.Ala1382=)
c.4011C>T (p.Ala1337=)
c.4143C>T (p.Ala1381=)
n.286C>T
n.434C>T
n.935C>T
n.269C>T
n.366-18C>T
c.4008C>T (p.Ala1336=)
n.4304C>T
2g.71611509_71611510delinsCACA1260124138DYSFc.1518_1519delinsCA (p.Ala506=)
c.735_736delinsCA (p.Ala245=)
c.693_694delinsCA (p.Ala231=)
c.4050_4051delinsCA (p.Ala1350=)
c.4104_4105delinsCA (p.Ala1368=)
c.4053_4054delinsCA (p.Ala1351=)
c.4101_4102delinsCA (p.Ala1367=)
c.4146_4147delinsCA (p.Ala1382=)
c.4011_4012delinsCA (p.Ala1337=)
c.4143_4144delinsCA (p.Ala1381=)
n.286_287delinsCA
n.434_435delinsCA
n.935_936delinsCA
n.269_270delinsCA
n.366-18_366-17delinsCA
c.4008_4009delinsCA (p.Ala1336=)
n.4304_4305delinsCA
2g.71611511_71611513delCA1032074284DYSFc.1520_1522del (p.Asn507del)
c.737_739del (p.Asn246del)
c.695_697del (p.Asn232del)
c.4052_4054del (p.Asn1351del)
c.4106_4108del (p.Asn1369del)
c.4055_4057del (p.Asn1352del)
c.4103_4105del (p.Asn1368del)
c.4148_4150del (p.Asn1383del)
c.4013_4015del (p.Asn1338del)
c.4145_4147del (p.Asn1382del)
n.288_290del
n.436_438del
n.937_939del
n.271_273del
n.366-16_366-14del
c.4010_4012del (p.Asn1337del)
n.4306_4308del
 gnomAD v3 gnomAD v4
2g.71611510A>CCA347228478DYSFc.1519A>C (p.Asn507His)
c.736A>C (p.Asn246His)
c.694A>C (p.Asn232His)
c.4051A>C (p.Asn1351His)
c.4105A>C (p.Asn1369His)
c.4054A>C (p.Asn1352His)
c.4102A>C (p.Asn1368His)
c.4147A>C (p.Asn1383His)
c.4012A>C (p.Asn1338His)
c.4144A>C (p.Asn1382His)
n.287A>C
n.435A>C
n.936A>C
n.270A>C
n.366-17A>C
c.4009A>C (p.Asn1337His)
n.4305A>C
2g.71611510A>GCA347228479DYSFc.1519A>G (p.Asn507Asp)
c.736A>G (p.Asn246Asp)
c.694A>G (p.Asn232Asp)
c.4051A>G (p.Asn1351Asp)
c.4105A>G (p.Asn1369Asp)
c.4054A>G (p.Asn1352Asp)
c.4102A>G (p.Asn1368Asp)
c.4147A>G (p.Asn1383Asp)
c.4012A>G (p.Asn1338Asp)
c.4144A>G (p.Asn1382Asp)
n.287A>G
n.435A>G
n.936A>G
n.270A>G
n.366-17A>G
c.4009A>G (p.Asn1337Asp)
n.4305A>G
 gnomAD v4
2g.71611510A>TCA347228480DYSFc.1519A>T (p.Asn507Tyr)
c.736A>T (p.Asn246Tyr)
c.694A>T (p.Asn232Tyr)
c.4051A>T (p.Asn1351Tyr)
c.4105A>T (p.Asn1369Tyr)
c.4054A>T (p.Asn1352Tyr)
c.4102A>T (p.Asn1368Tyr)
c.4147A>T (p.Asn1383Tyr)
c.4012A>T (p.Asn1338Tyr)
c.4144A>T (p.Asn1382Tyr)
n.287A>T
n.435A>T
n.936A>T
n.270A>T
n.366-17A>T
c.4009A>T (p.Asn1337Tyr)
n.4305A>T
2g.71611511delCA1260124139DYSFc.1520del (p.Asn507ThrfsTer9)
c.737del (p.Asn246ThrfsTer9)
c.695del (p.Asn232ThrfsTer9)
c.4052del (p.Asn1351ThrfsTer9)
c.4106del (p.Asn1369ThrfsTer9)
c.4055del (p.Asn1352ThrfsTer9)
c.4103del (p.Asn1368ThrfsTer9)
c.4148del (p.Asn1383ThrfsTer9)
c.4013del (p.Asn1338ThrfsTer9)
c.4145del (p.Asn1382ThrfsTer9)
n.288del
n.436del
n.937del
n.271del
n.366-16del
c.4010del (p.Asn1337ThrfsTer9)
n.4306del
 dbSNP gnomAD v4
2g.71611511A=CA1260124140DYSFc.1520A= (p.Asn507=)
c.737A= (p.Asn246=)
c.695A= (p.Asn232=)
c.4052A= (p.Asn1351=)
c.4106A= (p.Asn1369=)
c.4055A= (p.Asn1352=)
c.4103A= (p.Asn1368=)
c.4148A= (p.Asn1383=)
c.4013A= (p.Asn1338=)
c.4145A= (p.Asn1382=)
n.288A=
n.436A=
n.937A=
n.271A=
n.366-16A=
c.4010A= (p.Asn1337=)
n.4306A=
2g.71611511A>CCA347228481DYSFc.1520A>C (p.Asn507Thr)
c.737A>C (p.Asn246Thr)
c.695A>C (p.Asn232Thr)
c.4052A>C (p.Asn1351Thr)
c.4106A>C (p.Asn1369Thr)
c.4055A>C (p.Asn1352Thr)
c.4103A>C (p.Asn1368Thr)
c.4148A>C (p.Asn1383Thr)
c.4013A>C (p.Asn1338Thr)
c.4145A>C (p.Asn1382Thr)
n.288A>C
n.436A>C
n.937A>C
n.271A>C
n.366-16A>C
c.4010A>C (p.Asn1337Thr)
n.4306A>C
2g.71611511A>GCA1706892DYSFc.1520A>G (p.Asn507Ser)
c.737A>G (p.Asn246Ser)
c.695A>G (p.Asn232Ser)
c.4052A>G (p.Asn1351Ser)
c.4106A>G (p.Asn1369Ser)
c.4055A>G (p.Asn1352Ser)
c.4103A>G (p.Asn1368Ser)
c.4148A>G (p.Asn1383Ser)
c.4013A>G (p.Asn1338Ser)
c.4145A>G (p.Asn1382Ser)
n.288A>G
n.436A>G
n.937A>G
n.271A>G
n.366-16A>G
c.4010A>G (p.Asn1337Ser)
n.4306A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71611511A>TCA347228482DYSFc.1520A>T (p.Asn507Ile)
c.737A>T (p.Asn246Ile)
c.695A>T (p.Asn232Ile)
c.4052A>T (p.Asn1351Ile)
c.4106A>T (p.Asn1369Ile)
c.4055A>T (p.Asn1352Ile)
c.4103A>T (p.Asn1368Ile)
c.4148A>T (p.Asn1383Ile)
c.4013A>T (p.Asn1338Ile)
c.4145A>T (p.Asn1382Ile)
n.288A>T
n.436A>T
n.937A>T
n.271A>T
n.366-16A>T
c.4010A>T (p.Asn1337Ile)
n.4306A>T
2g.71611512C>ACA347228484DYSFc.1521C>A (p.Asn507Lys)
c.738C>A (p.Asn246Lys)
c.696C>A (p.Asn232Lys)
c.4053C>A (p.Asn1351Lys)
c.4107C>A (p.Asn1369Lys)
c.4056C>A (p.Asn1352Lys)
c.4104C>A (p.Asn1368Lys)
c.4149C>A (p.Asn1383Lys)
c.4014C>A (p.Asn1338Lys)
c.4146C>A (p.Asn1382Lys)
n.289C>A
n.437C>A
n.938C>A
n.272C>A
n.366-15C>A
c.4011C>A (p.Asn1337Lys)
n.4307C>A
2g.71611512C>GCA347228483DYSFc.1521C>G (p.Asn507Lys)
c.738C>G (p.Asn246Lys)
c.696C>G (p.Asn232Lys)
c.4053C>G (p.Asn1351Lys)
c.4107C>G (p.Asn1369Lys)
c.4056C>G (p.Asn1352Lys)
c.4104C>G (p.Asn1368Lys)
c.4149C>G (p.Asn1383Lys)
c.4014C>G (p.Asn1338Lys)
c.4146C>G (p.Asn1382Lys)
n.289C>G
n.437C>G
n.938C>G
n.272C>G
n.366-15C>G
c.4011C>G (p.Asn1337Lys)
n.4307C>G
2g.71611512C>TCA426758880DYSFc.1521C>T (p.Asn507=)
c.738C>T (p.Asn246=)
c.696C>T (p.Asn232=)
c.4053C>T (p.Asn1351=)
c.4107C>T (p.Asn1369=)
c.4056C>T (p.Asn1352=)
c.4104C>T (p.Asn1368=)
c.4149C>T (p.Asn1383=)
c.4014C>T (p.Asn1338=)
c.4146C>T (p.Asn1382=)
n.289C>T
n.437C>T
n.938C>T
n.272C>T
n.366-15C>T
c.4011C>T (p.Asn1337=)
n.4307C>T
2g.71611513A>CCA347228485DYSFc.1522A>C (p.Ile508Leu)
c.739A>C (p.Ile247Leu)
c.697A>C (p.Ile233Leu)
c.4054A>C (p.Ile1352Leu)
c.4108A>C (p.Ile1370Leu)
c.4057A>C (p.Ile1353Leu)
c.4105A>C (p.Ile1369Leu)
c.4150A>C (p.Ile1384Leu)
c.4015A>C (p.Ile1339Leu)
c.4147A>C (p.Ile1383Leu)
n.290A>C
n.438A>C
n.939A>C
n.273A>C
n.366-14A>C
c.4012A>C (p.Ile1338Leu)
n.4308A>C
2g.71611513A>GCA347228486DYSFc.1522A>G (p.Ile508Val)
c.739A>G (p.Ile247Val)
c.697A>G (p.Ile233Val)
c.4054A>G (p.Ile1352Val)
c.4108A>G (p.Ile1370Val)
c.4057A>G (p.Ile1353Val)
c.4105A>G (p.Ile1369Val)
c.4150A>G (p.Ile1384Val)
c.4015A>G (p.Ile1339Val)
c.4147A>G (p.Ile1383Val)
n.290A>G
n.438A>G
n.939A>G
n.273A>G
n.366-14A>G
c.4012A>G (p.Ile1338Val)
n.4308A>G
 gnomAD v4
2g.71611513A>TCA347228487DYSFc.1522A>T (p.Ile508Phe)
c.739A>T (p.Ile247Phe)
c.697A>T (p.Ile233Phe)
c.4054A>T (p.Ile1352Phe)
c.4108A>T (p.Ile1370Phe)
c.4057A>T (p.Ile1353Phe)
c.4105A>T (p.Ile1369Phe)
c.4150A>T (p.Ile1384Phe)
c.4015A>T (p.Ile1339Phe)
c.4147A>T (p.Ile1383Phe)
n.290A>T
n.438A>T
n.939A>T
n.273A>T
n.366-14A>T
c.4012A>T (p.Ile1338Phe)
n.4308A>T
2g.71611514T>ACA347228488DYSFc.1523T>A (p.Ile508Asn)
c.740T>A (p.Ile247Asn)
c.698T>A (p.Ile233Asn)
c.4055T>A (p.Ile1352Asn)
c.4109T>A (p.Ile1370Asn)
c.4058T>A (p.Ile1353Asn)
c.4106T>A (p.Ile1369Asn)
c.4151T>A (p.Ile1384Asn)
c.4016T>A (p.Ile1339Asn)
c.4148T>A (p.Ile1383Asn)
n.291T>A
n.439T>A
n.940T>A
n.274T>A
n.366-13T>A
c.4013T>A (p.Ile1338Asn)
n.4309T>A
2g.71611514T>CCA347228489DYSFc.1523T>C (p.Ile508Thr)
c.740T>C (p.Ile247Thr)
c.698T>C (p.Ile233Thr)
c.4055T>C (p.Ile1352Thr)
c.4109T>C (p.Ile1370Thr)
c.4058T>C (p.Ile1353Thr)
c.4106T>C (p.Ile1369Thr)
c.4151T>C (p.Ile1384Thr)
c.4016T>C (p.Ile1339Thr)
c.4148T>C (p.Ile1383Thr)
n.291T>C
n.439T>C
n.940T>C
n.274T>C
n.366-13T>C
c.4013T>C (p.Ile1338Thr)
n.4309T>C
2g.71611514T>GCA347228490DYSFc.1523T>G (p.Ile508Ser)
c.740T>G (p.Ile247Ser)
c.698T>G (p.Ile233Ser)
c.4055T>G (p.Ile1352Ser)
c.4109T>G (p.Ile1370Ser)
c.4058T>G (p.Ile1353Ser)
c.4106T>G (p.Ile1369Ser)
c.4151T>G (p.Ile1384Ser)
c.4016T>G (p.Ile1339Ser)
c.4148T>G (p.Ile1383Ser)
n.291T>G
n.439T>G
n.940T>G
n.274T>G
n.366-13T>G
c.4013T>G (p.Ile1338Ser)
n.4309T>G
2g.71611514_71611517delinsTCTCCA1260124141DYSFc.1523_1526delinsTCTC (p.Ile508=)
c.740_743delinsTCTC (p.Ile247=)
c.698_701delinsTCTC (p.Ile233=)
c.4055_4058delinsTCTC (p.Ile1352=)
c.4109_4112delinsTCTC (p.Ile1370=)
c.4058_4061delinsTCTC (p.Ile1353=)
c.4106_4109delinsTCTC (p.Ile1369=)
c.4151_4154delinsTCTC (p.Ile1384=)
c.4016_4019delinsTCTC (p.Ile1339=)
c.4148_4151delinsTCTC (p.Ile1383=)
n.291_294delinsTCTC
n.439_442delinsTCTC
n.940_943delinsTCTC
n.274_277delinsTCTC
n.366-13_366-10delinsTCTC
c.4013_4016delinsTCTC (p.Ile1338=)
n.4309_4312delinsTCTC
2g.71611515C>ACA426758885DYSFc.1524C>A (p.Ile508=)
c.741C>A (p.Ile247=)
c.699C>A (p.Ile233=)
c.4056C>A (p.Ile1352=)
c.4110C>A (p.Ile1370=)
c.4059C>A (p.Ile1353=)
c.4107C>A (p.Ile1369=)
c.4152C>A (p.Ile1384=)
c.4017C>A (p.Ile1339=)
c.4149C>A (p.Ile1383=)
n.292C>A
n.440C>A
n.941C>A
n.275C>A
n.366-12C>A
c.4014C>A (p.Ile1338=)
n.4310C>A
2g.71611515C>GCA347228491DYSFc.1524C>G (p.Ile508Met)
c.741C>G (p.Ile247Met)
c.699C>G (p.Ile233Met)
c.4056C>G (p.Ile1352Met)
c.4110C>G (p.Ile1370Met)
c.4059C>G (p.Ile1353Met)
c.4107C>G (p.Ile1369Met)
c.4152C>G (p.Ile1384Met)
c.4017C>G (p.Ile1339Met)
c.4149C>G (p.Ile1383Met)
n.292C>G
n.440C>G
n.941C>G
n.275C>G
n.366-12C>G
c.4014C>G (p.Ile1338Met)
n.4310C>G
2g.71611515C>TCA426758884DYSFc.1524C>T (p.Ile508=)
c.741C>T (p.Ile247=)
c.699C>T (p.Ile233=)
c.4056C>T (p.Ile1352=)
c.4110C>T (p.Ile1370=)
c.4059C>T (p.Ile1353=)
c.4107C>T (p.Ile1369=)
c.4152C>T (p.Ile1384=)
c.4017C>T (p.Ile1339=)
c.4149C>T (p.Ile1383=)
n.292C>T
n.440C>T
n.941C>T
n.275C>T
n.366-12C>T
c.4014C>T (p.Ile1338=)
n.4310C>T
2g.71611519_71611521delCA222161DYSFc.1528_1530del (p.Ser510del)
c.745_747del (p.Ser249del)
c.703_705del (p.Ser235del)
c.4060_4062del (p.Ser1354del)
c.4114_4116del (p.Ser1372del)
c.4063_4065del (p.Ser1355del)
c.4111_4113del (p.Ser1371del)
c.4156_4158del (p.Ser1386del)
c.4021_4023del (p.Ser1341del)
c.4153_4155del (p.Ser1385del)
n.296_298del
n.444_446del
n.945_947del
n.279_281del
n.366-8_366-6del
c.4018_4020del (p.Ser1340del)
n.4314_4316del
 ClinVar dbSNP gnomAD v4
2g.71611516T>ACA347228492DYSFc.1525T>A (p.Ser509Thr)
c.742T>A (p.Ser248Thr)
c.700T>A (p.Ser234Thr)
c.4057T>A (p.Ser1353Thr)
c.4111T>A (p.Ser1371Thr)
c.4060T>A (p.Ser1354Thr)
c.4108T>A (p.Ser1370Thr)
c.4153T>A (p.Ser1385Thr)
c.4018T>A (p.Ser1340Thr)
c.4150T>A (p.Ser1384Thr)
n.293T>A
n.441T>A
n.942T>A
n.276T>A
n.366-11T>A
c.4015T>A (p.Ser1339Thr)
n.4311T>A
2g.71611516T>CCA347228493DYSFc.1525T>C (p.Ser509Pro)
c.742T>C (p.Ser248Pro)
c.700T>C (p.Ser234Pro)
c.4057T>C (p.Ser1353Pro)
c.4111T>C (p.Ser1371Pro)
c.4060T>C (p.Ser1354Pro)
c.4108T>C (p.Ser1370Pro)
c.4153T>C (p.Ser1385Pro)
c.4018T>C (p.Ser1340Pro)
c.4150T>C (p.Ser1384Pro)
n.293T>C
n.441T>C
n.942T>C
n.276T>C
n.366-11T>C
c.4015T>C (p.Ser1339Pro)
n.4311T>C
2g.71611516T>GCA347228494DYSFc.1525T>G (p.Ser509Ala)
c.742T>G (p.Ser248Ala)
c.700T>G (p.Ser234Ala)
c.4057T>G (p.Ser1353Ala)
c.4111T>G (p.Ser1371Ala)
c.4060T>G (p.Ser1354Ala)
c.4108T>G (p.Ser1370Ala)
c.4153T>G (p.Ser1385Ala)
c.4018T>G (p.Ser1340Ala)
c.4150T>G (p.Ser1384Ala)
n.293T>G
n.441T>G
n.942T>G
n.276T>G
n.366-11T>G
c.4015T>G (p.Ser1339Ala)
n.4311T>G
2g.71611517C>ACA49778978DYSFc.1526C>A (p.Ser509Tyr)
c.743C>A (p.Ser248Tyr)
c.701C>A (p.Ser234Tyr)
c.4058C>A (p.Ser1353Tyr)
c.4112C>A (p.Ser1371Tyr)
c.4061C>A (p.Ser1354Tyr)
c.4109C>A (p.Ser1370Tyr)
c.4154C>A (p.Ser1385Tyr)
c.4019C>A (p.Ser1340Tyr)
c.4151C>A (p.Ser1384Tyr)
n.294C>A
n.442C>A
n.943C>A
n.277C>A
n.366-10C>A
c.4016C>A (p.Ser1339Tyr)
n.4312C>A
 dbSNP gnomAD v3 gnomAD v4
2g.71611517C=CA1260124142DYSFc.1526C= (p.Ser509=)
c.743C= (p.Ser248=)
c.701C= (p.Ser234=)
c.4058C= (p.Ser1353=)
c.4112C= (p.Ser1371=)
c.4061C= (p.Ser1354=)
c.4109C= (p.Ser1370=)
c.4154C= (p.Ser1385=)
c.4019C= (p.Ser1340=)
c.4151C= (p.Ser1384=)
n.294C=
n.442C=
n.943C=
n.277C=
n.366-10C=
c.4016C= (p.Ser1339=)
n.4312C=
2g.71611517C>GCA347228495DYSFc.1526C>G (p.Ser509Cys)
c.743C>G (p.Ser248Cys)
c.701C>G (p.Ser234Cys)
c.4058C>G (p.Ser1353Cys)
c.4112C>G (p.Ser1371Cys)
c.4061C>G (p.Ser1354Cys)
c.4109C>G (p.Ser1370Cys)
c.4154C>G (p.Ser1385Cys)
c.4019C>G (p.Ser1340Cys)
c.4151C>G (p.Ser1384Cys)
n.294C>G
n.442C>G
n.943C>G
n.277C>G
n.366-10C>G
c.4016C>G (p.Ser1339Cys)
n.4312C>G
2g.71611517C>TCA347228496DYSFc.1526C>T (p.Ser509Phe)
c.743C>T (p.Ser248Phe)
c.701C>T (p.Ser234Phe)
c.4058C>T (p.Ser1353Phe)
c.4112C>T (p.Ser1371Phe)
c.4061C>T (p.Ser1354Phe)
c.4109C>T (p.Ser1370Phe)
c.4154C>T (p.Ser1385Phe)
c.4019C>T (p.Ser1340Phe)
c.4151C>T (p.Ser1384Phe)
n.294C>T
n.442C>T
n.943C>T
n.277C>T
n.366-10C>T
c.4016C>T (p.Ser1339Phe)
n.4312C>T
 ClinVar
2g.71611518C>ACA426758886DYSFc.1527C>A (p.Ser509=)
c.744C>A (p.Ser248=)
c.702C>A (p.Ser234=)
c.4059C>A (p.Ser1353=)
c.4113C>A (p.Ser1371=)
c.4062C>A (p.Ser1354=)
c.4110C>A (p.Ser1370=)
c.4155C>A (p.Ser1385=)
c.4020C>A (p.Ser1340=)
c.4152C>A (p.Ser1384=)
n.295C>A
n.443C>A
n.944C>A
n.278C>A
n.366-9C>A
c.4017C>A (p.Ser1339=)
n.4313C>A
 ClinVar dbSNP
2g.71611518C>GCA426758887DYSFc.1527C>G (p.Ser509=)
c.744C>G (p.Ser248=)
c.702C>G (p.Ser234=)
c.4059C>G (p.Ser1353=)
c.4113C>G (p.Ser1371=)
c.4062C>G (p.Ser1354=)
c.4110C>G (p.Ser1370=)
c.4155C>G (p.Ser1385=)
c.4020C>G (p.Ser1340=)
c.4152C>G (p.Ser1384=)
n.295C>G
n.443C>G
n.944C>G
n.278C>G
n.366-9C>G
c.4017C>G (p.Ser1339=)
n.4313C>G
2g.71611518C>TCA426758889DYSFc.1527C>T (p.Ser509=)
c.744C>T (p.Ser248=)
c.702C>T (p.Ser234=)
c.4059C>T (p.Ser1353=)
c.4113C>T (p.Ser1371=)
c.4062C>T (p.Ser1354=)
c.4110C>T (p.Ser1370=)
c.4155C>T (p.Ser1385=)
c.4020C>T (p.Ser1340=)
c.4152C>T (p.Ser1384=)
n.295C>T
n.443C>T
n.944C>T
n.278C>T
n.366-9C>T
c.4017C>T (p.Ser1339=)
n.4313C>T
2g.71611518_71611519delinsCTCA1260124143DYSFc.1527_1528delinsCT (p.Ser509=)
c.744_745delinsCT (p.Ser248=)
c.702_703delinsCT (p.Ser234=)
c.4059_4060delinsCT (p.Ser1353=)
c.4113_4114delinsCT (p.Ser1371=)
c.4062_4063delinsCT (p.Ser1354=)
c.4110_4111delinsCT (p.Ser1370=)
c.4155_4156delinsCT (p.Ser1385=)
c.4020_4021delinsCT (p.Ser1340=)
c.4152_4153delinsCT (p.Ser1384=)
n.295_296delinsCT
n.443_444delinsCT
n.944_945delinsCT
n.278_279delinsCT
n.366-9_366-8delinsCT
c.4017_4018delinsCT (p.Ser1339=)
n.4313_4314delinsCT
2g.71611519delCA1139532920DYSFc.1528del (p.Ser510ProfsTer6)
c.745del (p.Ser249ProfsTer6)
c.703del (p.Ser235ProfsTer6)
c.4060del (p.Ser1354ProfsTer6)
c.4114del (p.Ser1372ProfsTer6)
c.4063del (p.Ser1355ProfsTer6)
c.4111del (p.Ser1371ProfsTer6)
c.4156del (p.Ser1386ProfsTer6)
c.4021del (p.Ser1341ProfsTer6)
c.4153del (p.Ser1385ProfsTer6)
n.296del
n.444del
n.945del
n.279del
n.366-8del
c.4018del (p.Ser1340ProfsTer6)
n.4314del
 ClinVar dbSNP
2g.71611519T>ACA347228498DYSFc.1528T>A (p.Ser510Thr)
c.745T>A (p.Ser249Thr)
c.703T>A (p.Ser235Thr)
c.4060T>A (p.Ser1354Thr)
c.4114T>A (p.Ser1372Thr)
c.4063T>A (p.Ser1355Thr)
c.4111T>A (p.Ser1371Thr)
c.4156T>A (p.Ser1386Thr)
c.4021T>A (p.Ser1341Thr)
c.4153T>A (p.Ser1385Thr)
n.296T>A
n.444T>A
n.945T>A
n.279T>A
n.366-8T>A
c.4018T>A (p.Ser1340Thr)
n.4314T>A
2g.71611519T>CCA347228499DYSFc.1528T>C (p.Ser510Pro)
c.745T>C (p.Ser249Pro)
c.703T>C (p.Ser235Pro)
c.4060T>C (p.Ser1354Pro)
c.4114T>C (p.Ser1372Pro)
c.4063T>C (p.Ser1355Pro)
c.4111T>C (p.Ser1371Pro)
c.4156T>C (p.Ser1386Pro)
c.4021T>C (p.Ser1341Pro)
c.4153T>C (p.Ser1385Pro)
n.296T>C
n.444T>C
n.945T>C
n.279T>C
n.366-8T>C
c.4018T>C (p.Ser1340Pro)
n.4314T>C
 dbSNP gnomAD v4
2g.71611519T>GCA347228497DYSFc.1528T>G (p.Ser510Ala)
c.745T>G (p.Ser249Ala)
c.703T>G (p.Ser235Ala)
c.4060T>G (p.Ser1354Ala)
c.4114T>G (p.Ser1372Ala)
c.4063T>G (p.Ser1355Ala)
c.4111T>G (p.Ser1371Ala)
c.4156T>G (p.Ser1386Ala)
c.4021T>G (p.Ser1341Ala)
c.4153T>G (p.Ser1385Ala)
n.296T>G
n.444T>G
n.945T>G
n.279T>G
n.366-8T>G
c.4018T>G (p.Ser1340Ala)
n.4314T>G
2g.71611519T=CA1260124144DYSFc.1528T= (p.Ser510=)
c.745T= (p.Ser249=)
c.703T= (p.Ser235=)
c.4060T= (p.Ser1354=)
c.4114T= (p.Ser1372=)
c.4063T= (p.Ser1355=)
c.4111T= (p.Ser1371=)
c.4156T= (p.Ser1386=)
c.4021T= (p.Ser1341=)
c.4153T= (p.Ser1385=)
n.296T=
n.444T=
n.945T=
n.279T=
n.366-8T=
c.4018T= (p.Ser1340=)
n.4314T=
2g.71611520C>ACA347228502DYSFc.1529C>A (p.Ser510Tyr)
c.746C>A (p.Ser249Tyr)
c.704C>A (p.Ser235Tyr)
c.4061C>A (p.Ser1354Tyr)
c.4115C>A (p.Ser1372Tyr)
c.4064C>A (p.Ser1355Tyr)
c.4112C>A (p.Ser1371Tyr)
c.4157C>A (p.Ser1386Tyr)
c.4022C>A (p.Ser1341Tyr)
c.4154C>A (p.Ser1385Tyr)
n.297C>A
n.445C>A
n.946C>A
n.280C>A
n.366-7C>A
c.4019C>A (p.Ser1340Tyr)
n.4315C>A
2g.71611520C>GCA347228500DYSFc.1529C>G (p.Ser510Cys)
c.746C>G (p.Ser249Cys)
c.704C>G (p.Ser235Cys)
c.4061C>G (p.Ser1354Cys)
c.4115C>G (p.Ser1372Cys)
c.4064C>G (p.Ser1355Cys)
c.4112C>G (p.Ser1371Cys)
c.4157C>G (p.Ser1386Cys)
c.4022C>G (p.Ser1341Cys)
c.4154C>G (p.Ser1385Cys)
n.297C>G
n.445C>G
n.946C>G
n.280C>G
n.366-7C>G
c.4019C>G (p.Ser1340Cys)
n.4315C>G
2g.71611520C>TCA347228501DYSFc.1529C>T (p.Ser510Phe)
c.746C>T (p.Ser249Phe)
c.704C>T (p.Ser235Phe)
c.4061C>T (p.Ser1354Phe)
c.4115C>T (p.Ser1372Phe)
c.4064C>T (p.Ser1355Phe)
c.4112C>T (p.Ser1371Phe)
c.4157C>T (p.Ser1386Phe)
c.4022C>T (p.Ser1341Phe)
c.4154C>T (p.Ser1385Phe)
n.297C>T
n.445C>T
n.946C>T
n.280C>T
n.366-7C>T
c.4019C>T (p.Ser1340Phe)
n.4315C>T
2g.71611521C>ACA426758890DYSFc.1530C>A (p.Ser510=)
c.747C>A (p.Ser249=)
c.705C>A (p.Ser235=)
c.4062C>A (p.Ser1354=)
c.4116C>A (p.Ser1372=)
c.4065C>A (p.Ser1355=)
c.4113C>A (p.Ser1371=)
c.4158C>A (p.Ser1386=)
c.4023C>A (p.Ser1341=)
c.4155C>A (p.Ser1385=)
n.298C>A
n.446C>A
n.947C>A
n.281C>A
n.366-6C>A
c.4020C>A (p.Ser1340=)
n.4316C>A
2g.71611521C=CA1260124145DYSFc.1530C= (p.Ser510=)
c.747C= (p.Ser249=)
c.705C= (p.Ser235=)
c.4062C= (p.Ser1354=)
c.4116C= (p.Ser1372=)
c.4065C= (p.Ser1355=)
c.4113C= (p.Ser1371=)
c.4158C= (p.Ser1386=)
c.4023C= (p.Ser1341=)
c.4155C= (p.Ser1385=)
n.298C=
n.446C=
n.947C=
n.281C=
n.366-6C=
c.4020C= (p.Ser1340=)
n.4316C=
2g.71611521C>GCA426758891DYSFc.1530C>G (p.Ser510=)
c.747C>G (p.Ser249=)
c.705C>G (p.Ser235=)
c.4062C>G (p.Ser1354=)
c.4116C>G (p.Ser1372=)
c.4065C>G (p.Ser1355=)
c.4113C>G (p.Ser1371=)
c.4158C>G (p.Ser1386=)
c.4023C>G (p.Ser1341=)
c.4155C>G (p.Ser1385=)
n.298C>G
n.446C>G
n.947C>G
n.281C>G
n.366-6C>G
c.4020C>G (p.Ser1340=)
n.4316C>G
2g.71611521C>TCA1706893DYSFc.1530C>T (p.Ser510=)
c.747C>T (p.Ser249=)
c.705C>T (p.Ser235=)
c.4062C>T (p.Ser1354=)
c.4116C>T (p.Ser1372=)
c.4065C>T (p.Ser1355=)
c.4113C>T (p.Ser1371=)
c.4158C>T (p.Ser1386=)
c.4023C>T (p.Ser1341=)
c.4155C>T (p.Ser1385=)
n.298C>T
n.446C>T
n.947C>T
n.281C>T
n.366-6C>T
c.4020C>T (p.Ser1340=)
n.4316C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71611521_71611522insTCA2586969507DYSFc.1530_1531insT (p.Pro511SerfsTer27)
c.747_748insT (p.Pro250SerfsTer27)
c.705_706insT (p.Pro236SerfsTer27)
c.4062_4063insT (p.Pro1355SerfsTer27)
c.4116_4117insT (p.Pro1373SerfsTer27)
c.4065_4066insT (p.Pro1356SerfsTer27)
c.4113_4114insT (p.Pro1372SerfsTer27)
c.4158_4159insT (p.Pro1387SerfsTer27)
c.4023_4024insT (p.Pro1342SerfsTer27)
c.4155_4156insT (p.Pro1386SerfsTer27)
n.298_299insT
n.446_447insT
n.947_948insT
n.281_282insT
n.366-6_366-5insT
c.4020_4021insT (p.Pro1341SerfsTer27)
n.4316_4317insT
2g.71611522C>ACA1706894DYSFc.1531C>A (p.Pro511Thr)
c.748C>A (p.Pro250Thr)
c.706C>A (p.Pro236Thr)
c.4063C>A (p.Pro1355Thr)
c.4117C>A (p.Pro1373Thr)
c.4066C>A (p.Pro1356Thr)
c.4114C>A (p.Pro1372Thr)
c.4159C>A (p.Pro1387Thr)
c.4024C>A (p.Pro1342Thr)
c.4156C>A (p.Pro1386Thr)
n.299C>A
n.447C>A
n.948C>A
n.282C>A
n.366-5C>A
c.4021C>A (p.Pro1341Thr)
n.4317C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71611522C=CA1260124146DYSFc.1531C= (p.Pro511=)
c.748C= (p.Pro250=)
c.706C= (p.Pro236=)
c.4063C= (p.Pro1355=)
c.4117C= (p.Pro1373=)
c.4066C= (p.Pro1356=)
c.4114C= (p.Pro1372=)
c.4159C= (p.Pro1387=)
c.4024C= (p.Pro1342=)
c.4156C= (p.Pro1386=)
n.299C=
n.447C=
n.948C=
n.282C=
n.366-5C=
c.4021C= (p.Pro1341=)
n.4317C=
2g.71611522C>GCA347228503DYSFc.1531C>G (p.Pro511Ala)
c.748C>G (p.Pro250Ala)
c.706C>G (p.Pro236Ala)
c.4063C>G (p.Pro1355Ala)
c.4117C>G (p.Pro1373Ala)
c.4066C>G (p.Pro1356Ala)
c.4114C>G (p.Pro1372Ala)
c.4159C>G (p.Pro1387Ala)
c.4024C>G (p.Pro1342Ala)
c.4156C>G (p.Pro1386Ala)
n.299C>G
n.447C>G
n.948C>G
n.282C>G
n.366-5C>G
c.4021C>G (p.Pro1341Ala)
n.4317C>G
2g.71611522C>TCA347228504DYSFc.1531C>T (p.Pro511Ser)
c.748C>T (p.Pro250Ser)
c.706C>T (p.Pro236Ser)
c.4063C>T (p.Pro1355Ser)
c.4117C>T (p.Pro1373Ser)
c.4066C>T (p.Pro1356Ser)
c.4114C>T (p.Pro1372Ser)
c.4159C>T (p.Pro1387Ser)
c.4024C>T (p.Pro1342Ser)
c.4156C>T (p.Pro1386Ser)
n.299C>T
n.447C>T
n.948C>T
n.282C>T
n.366-5C>T
c.4021C>T (p.Pro1341Ser)
n.4317C>T
 gnomAD v4
2g.71611522_71611523insTCA2586969508DYSFc.1531_1532insT (p.Pro511LeufsTer27)
c.748_749insT (p.Pro250LeufsTer27)
c.706_707insT (p.Pro236LeufsTer27)
c.4063_4064insT (p.Pro1355LeufsTer27)
c.4117_4118insT (p.Pro1373LeufsTer27)
c.4066_4067insT (p.Pro1356LeufsTer27)
c.4114_4115insT (p.Pro1372LeufsTer27)
c.4159_4160insT (p.Pro1387LeufsTer27)
c.4024_4025insT (p.Pro1342LeufsTer27)
c.4156_4157insT (p.Pro1386LeufsTer27)
n.299_300insT
n.447_448insT
n.948_949insT
n.282_283insT
n.366-5_366-4insT
c.4021_4022insT (p.Pro1341LeufsTer27)
n.4317_4318insT
2g.71611523C>ACA347228505DYSFc.1532C>A (p.Pro511His)
c.749C>A (p.Pro250His)
c.707C>A (p.Pro236His)
c.4064C>A (p.Pro1355His)
c.4118C>A (p.Pro1373His)
c.4067C>A (p.Pro1356His)
c.4115C>A (p.Pro1372His)
c.4160C>A (p.Pro1387His)
c.4025C>A (p.Pro1342His)
c.4157C>A (p.Pro1386His)
n.300C>A
n.448C>A
n.949C>A
n.283C>A
n.366-4C>A
c.4022C>A (p.Pro1341His)
n.4318C>A
 dbSNP gnomAD v4
2g.71611523C=CA1260124147DYSFc.1532C= (p.Pro511=)
c.749C= (p.Pro250=)
c.707C= (p.Pro236=)
c.4064C= (p.Pro1355=)
c.4118C= (p.Pro1373=)
c.4067C= (p.Pro1356=)
c.4115C= (p.Pro1372=)
c.4160C= (p.Pro1387=)
c.4025C= (p.Pro1342=)
c.4157C= (p.Pro1386=)
n.300C=
n.448C=
n.949C=
n.283C=
n.366-4C=
c.4022C= (p.Pro1341=)
n.4318C=
2g.71611523C>GCA347228506DYSFc.1532C>G (p.Pro511Arg)
c.749C>G (p.Pro250Arg)
c.707C>G (p.Pro236Arg)
c.4064C>G (p.Pro1355Arg)
c.4118C>G (p.Pro1373Arg)
c.4067C>G (p.Pro1356Arg)
c.4115C>G (p.Pro1372Arg)
c.4160C>G (p.Pro1387Arg)
c.4025C>G (p.Pro1342Arg)
c.4157C>G (p.Pro1386Arg)
n.300C>G
n.448C>G
n.949C>G
n.283C>G
n.366-4C>G
c.4022C>G (p.Pro1341Arg)
n.4318C>G
2g.71611523C>TCA347228507DYSFc.1532C>T (p.Pro511Leu)
c.749C>T (p.Pro250Leu)
c.707C>T (p.Pro236Leu)
c.4064C>T (p.Pro1355Leu)
c.4118C>T (p.Pro1373Leu)
c.4067C>T (p.Pro1356Leu)
c.4115C>T (p.Pro1372Leu)
c.4160C>T (p.Pro1387Leu)
c.4025C>T (p.Pro1342Leu)
c.4157C>T (p.Pro1386Leu)
n.300C>T
n.448C>T
n.949C>T
n.283C>T
n.366-4C>T
c.4022C>T (p.Pro1341Leu)
n.4318C>T
 dbSNP gnomAD v3 gnomAD v4
2g.71611524C>ACA1706895DYSFc.1533C>A (p.Pro511=)
c.750C>A (p.Pro250=)
c.708C>A (p.Pro236=)
c.4065C>A (p.Pro1355=)
c.4119C>A (p.Pro1373=)
c.4068C>A (p.Pro1356=)
c.4116C>A (p.Pro1372=)
c.4161C>A (p.Pro1387=)
c.4026C>A (p.Pro1342=)
c.4158C>A (p.Pro1386=)
n.301C>A
n.449C>A
n.950C>A
n.284C>A
n.366-3C>A
c.4023C>A (p.Pro1341=)
n.4319C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71611524C=CA1260124148DYSFc.1533C= (p.Pro511=)
c.750C= (p.Pro250=)
c.708C= (p.Pro236=)
c.4065C= (p.Pro1355=)
c.4119C= (p.Pro1373=)
c.4068C= (p.Pro1356=)
c.4116C= (p.Pro1372=)
c.4161C= (p.Pro1387=)
c.4026C= (p.Pro1342=)
c.4158C= (p.Pro1386=)
n.301C=
n.449C=
n.950C=
n.284C=
n.366-3C=
c.4023C= (p.Pro1341=)
n.4319C=
2g.71611524C>GCA426758592DYSFc.1533C>G (p.Pro511=)
c.750C>G (p.Pro250=)
c.708C>G (p.Pro236=)
c.4065C>G (p.Pro1355=)
c.4119C>G (p.Pro1373=)
c.4068C>G (p.Pro1356=)
c.4116C>G (p.Pro1372=)
c.4161C>G (p.Pro1387=)
c.4026C>G (p.Pro1342=)
c.4158C>G (p.Pro1386=)
n.301C>G
n.449C>G
n.950C>G
n.284C>G
n.366-3C>G
c.4023C>G (p.Pro1341=)
n.4319C>G
2g.71611524C>TCA426758593DYSFc.1533C>T (p.Pro511=)
c.750C>T (p.Pro250=)
c.708C>T (p.Pro236=)
c.4065C>T (p.Pro1355=)
c.4119C>T (p.Pro1373=)
c.4068C>T (p.Pro1356=)
c.4116C>T (p.Pro1372=)
c.4161C>T (p.Pro1387=)
c.4026C>T (p.Pro1342=)
c.4158C>T (p.Pro1386=)
n.301C>T
n.449C>T
n.950C>T
n.284C>T
n.366-3C>T
c.4023C>T (p.Pro1341=)
n.4319C>T
 dbSNP gnomAD v4
2g.71611525A=CA1260124149DYSFc.1534A= (p.Ser512=)
c.751A= (p.Ser251=)
c.709A= (p.Ser237=)
c.4066A= (p.Ser1356=)
c.4120A= (p.Ser1374=)
c.4069A= (p.Ser1357=)
c.4117A= (p.Ser1373=)
c.4162A= (p.Ser1388=)
c.4027A= (p.Ser1343=)
c.4159A= (p.Ser1387=)
n.302A=
n.450A=
n.951A=
n.285A=
n.366-2A=
c.4024A= (p.Ser1342=)
n.4320A=
2g.71611525A>CCA347228508DYSFc.1534A>C (p.Ser512Arg)
c.751A>C (p.Ser251Arg)
c.709A>C (p.Ser237Arg)
c.4066A>C (p.Ser1356Arg)
c.4120A>C (p.Ser1374Arg)
c.4069A>C (p.Ser1357Arg)
c.4117A>C (p.Ser1373Arg)
c.4162A>C (p.Ser1388Arg)
c.4027A>C (p.Ser1343Arg)
c.4159A>C (p.Ser1387Arg)
n.302A>C
n.450A>C
n.951A>C
n.285A>C
n.366-2A>C
c.4024A>C (p.Ser1342Arg)
n.4320A>C
2g.71611525A>GCA347228509DYSFc.1534A>G (p.Ser512Gly)
c.751A>G (p.Ser251Gly)
c.709A>G (p.Ser237Gly)
c.4066A>G (p.Ser1356Gly)
c.4120A>G (p.Ser1374Gly)
c.4069A>G (p.Ser1357Gly)
c.4117A>G (p.Ser1373Gly)
c.4162A>G (p.Ser1388Gly)
c.4027A>G (p.Ser1343Gly)
c.4159A>G (p.Ser1387Gly)
n.302A>G
n.450A>G
n.951A>G
n.285A>G
n.366-2A>G
c.4024A>G (p.Ser1342Gly)
n.4320A>G
 dbSNP gnomAD v4
2g.71611525A>TCA347228510DYSFc.1534A>T (p.Ser512Cys)
c.751A>T (p.Ser251Cys)
c.709A>T (p.Ser237Cys)
c.4066A>T (p.Ser1356Cys)
c.4120A>T (p.Ser1374Cys)
c.4069A>T (p.Ser1357Cys)
c.4117A>T (p.Ser1373Cys)
c.4162A>T (p.Ser1388Cys)
c.4027A>T (p.Ser1343Cys)
c.4159A>T (p.Ser1387Cys)
n.302A>T
n.450A>T
n.951A>T
n.285A>T
n.366-2A>T
c.4024A>T (p.Ser1342Cys)
n.4320A>T
2g.71611526G>ACA347228511DYSFc.1535G>A (p.Ser512Asn)
c.752G>A (p.Ser251Asn)
c.710G>A (p.Ser237Asn)
c.4067G>A (p.Ser1356Asn)
c.4121G>A (p.Ser1374Asn)
c.4070G>A (p.Ser1357Asn)
c.4118G>A (p.Ser1373Asn)
c.4163G>A (p.Ser1388Asn)
c.4028G>A (p.Ser1343Asn)
c.4160G>A (p.Ser1387Asn)
n.303G>A
n.451G>A
n.952G>A
n.286G>A
n.366-1G>A
c.4025G>A (p.Ser1342Asn)
n.4321G>A
2g.71611526G>CCA347228513DYSFc.1535G>C (p.Ser512Thr)
c.752G>C (p.Ser251Thr)
c.710G>C (p.Ser237Thr)
c.4067G>C (p.Ser1356Thr)
c.4121G>C (p.Ser1374Thr)
c.4070G>C (p.Ser1357Thr)
c.4118G>C (p.Ser1373Thr)
c.4163G>C (p.Ser1388Thr)
c.4028G>C (p.Ser1343Thr)
c.4160G>C (p.Ser1387Thr)
n.303G>C
n.451G>C
n.952G>C
n.286G>C
n.366-1G>C
c.4025G>C (p.Ser1342Thr)
n.4321G>C
2g.71611526G>TCA347228512DYSFc.1535G>T (p.Ser512Ile)
c.752G>T (p.Ser251Ile)
c.710G>T (p.Ser237Ile)
c.4067G>T (p.Ser1356Ile)
c.4121G>T (p.Ser1374Ile)
c.4070G>T (p.Ser1357Ile)
c.4118G>T (p.Ser1373Ile)
c.4163G>T (p.Ser1388Ile)
c.4028G>T (p.Ser1343Ile)
c.4160G>T (p.Ser1387Ile)
n.303G>T
n.451G>T
n.952G>T
n.286G>T
n.366-1G>T
c.4025G>T (p.Ser1342Ile)
n.4321G>T
2g.71611527C>ACA347228514DYSFc.1536C>A (p.Ser512Arg)
c.753C>A (p.Ser251Arg)
c.711C>A (p.Ser237Arg)
c.4068C>A (p.Ser1356Arg)
c.4122C>A (p.Ser1374Arg)
c.4071C>A (p.Ser1357Arg)
c.4119C>A (p.Ser1373Arg)
c.4164C>A (p.Ser1388Arg)
c.4029C>A (p.Ser1343Arg)
c.4161C>A (p.Ser1387Arg)
n.304C>A
n.452C>A
n.953C>A
n.287C>A
n.366C>A
c.4026C>A (p.Ser1342Arg)
n.4322C>A
 dbSNP
2g.71611527C=CA1260124150DYSFc.1536C= (p.Ser512=)
c.753C= (p.Ser251=)
c.711C= (p.Ser237=)
c.4068C= (p.Ser1356=)
c.4122C= (p.Ser1374=)
c.4071C= (p.Ser1357=)
c.4119C= (p.Ser1373=)
c.4164C= (p.Ser1388=)
c.4029C= (p.Ser1343=)
c.4161C= (p.Ser1387=)
n.304C=
n.452C=
n.953C=
n.287C=
n.366C=
c.4026C= (p.Ser1342=)
n.4322C=
2g.71611527C>GCA347228515DYSFc.1536C>G (p.Ser512Arg)
c.753C>G (p.Ser251Arg)
c.711C>G (p.Ser237Arg)
c.4068C>G (p.Ser1356Arg)
c.4122C>G (p.Ser1374Arg)
c.4071C>G (p.Ser1357Arg)
c.4119C>G (p.Ser1373Arg)
c.4164C>G (p.Ser1388Arg)
c.4029C>G (p.Ser1343Arg)
c.4161C>G (p.Ser1387Arg)
n.304C>G
n.452C>G
n.953C>G
n.287C>G
n.366C>G
c.4026C>G (p.Ser1342Arg)
n.4322C>G
2g.71611527C>TCA147757DYSFc.1536C>T (p.Ser512=)
c.753C>T (p.Ser251=)
c.711C>T (p.Ser237=)
c.4068C>T (p.Ser1356=)
c.4122C>T (p.Ser1374=)
c.4071C>T (p.Ser1357=)
c.4119C>T (p.Ser1373=)
c.4164C>T (p.Ser1388=)
c.4029C>T (p.Ser1343=)
c.4161C>T (p.Ser1387=)
n.304C>T
n.452C>T
n.953C>T
n.287C>T
n.366C>T
c.4026C>T (p.Ser1342=)
n.4322C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71611528C>ACA347228516DYSFc.1537C>A (p.Leu513Ile)
c.754C>A (p.Leu252Ile)
c.712C>A (p.Leu238Ile)
c.4069C>A (p.Leu1357Ile)
c.4123C>A (p.Leu1375Ile)
c.4072C>A (p.Leu1358Ile)
c.4120C>A (p.Leu1374Ile)
c.4165C>A (p.Leu1389Ile)
c.4030C>A (p.Leu1344Ile)
c.4162C>A (p.Leu1388Ile)
n.305C>A
n.453C>A
n.954C>A
n.288C>A
n.367C>A
c.4027C>A (p.Leu1343Ile)
n.4323C>A
2g.71611528C=CA1260124151DYSFc.1537C= (p.Leu513=)
c.754C= (p.Leu252=)
c.712C= (p.Leu238=)
c.4069C= (p.Leu1357=)
c.4123C= (p.Leu1375=)
c.4072C= (p.Leu1358=)
c.4120C= (p.Leu1374=)
c.4165C= (p.Leu1389=)
c.4030C= (p.Leu1344=)
c.4162C= (p.Leu1388=)
n.305C=
n.453C=
n.954C=
n.288C=
n.367C=
c.4027C= (p.Leu1343=)
n.4323C=
2g.71611528C>GCA347228517DYSFc.1537C>G (p.Leu513Val)
c.754C>G (p.Leu252Val)
c.712C>G (p.Leu238Val)
c.4069C>G (p.Leu1357Val)
c.4123C>G (p.Leu1375Val)
c.4072C>G (p.Leu1358Val)
c.4120C>G (p.Leu1374Val)
c.4165C>G (p.Leu1389Val)
c.4030C>G (p.Leu1344Val)
c.4162C>G (p.Leu1388Val)
n.305C>G
n.453C>G
n.954C>G
n.288C>G
n.367C>G
c.4027C>G (p.Leu1343Val)
n.4323C>G
2g.71611528C>TCA1706896DYSFc.1537C>T (p.Leu513Phe)
c.754C>T (p.Leu252Phe)
c.712C>T (p.Leu238Phe)
c.4069C>T (p.Leu1357Phe)
c.4123C>T (p.Leu1375Phe)
c.4072C>T (p.Leu1358Phe)
c.4120C>T (p.Leu1374Phe)
c.4165C>T (p.Leu1389Phe)
c.4030C>T (p.Leu1344Phe)
c.4162C>T (p.Leu1388Phe)
n.305C>T
n.453C>T
n.954C>T
n.288C>T
n.367C>T
c.4027C>T (p.Leu1343Phe)
n.4323C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71611529T>ACA347228518DYSFc.1538T>A (p.Leu513His)
c.755T>A (p.Leu252His)
c.713T>A (p.Leu238His)
c.4070T>A (p.Leu1357His)
c.4124T>A (p.Leu1375His)
c.4073T>A (p.Leu1358His)
c.4121T>A (p.Leu1374His)
c.4166T>A (p.Leu1389His)
c.4031T>A (p.Leu1344His)
c.4163T>A (p.Leu1388His)
n.306T>A
n.454T>A
n.955T>A
n.289T>A
n.368T>A
c.4028T>A (p.Leu1343His)
n.4324T>A
2g.71611529T>CCA347228519DYSFc.1538T>C (p.Leu513Pro)
c.755T>C (p.Leu252Pro)
c.713T>C (p.Leu238Pro)
c.4070T>C (p.Leu1357Pro)
c.4124T>C (p.Leu1375Pro)
c.4073T>C (p.Leu1358Pro)
c.4121T>C (p.Leu1374Pro)
c.4166T>C (p.Leu1389Pro)
c.4031T>C (p.Leu1344Pro)
c.4163T>C (p.Leu1388Pro)
n.306T>C
n.454T>C
n.955T>C
n.289T>C
n.368T>C
c.4028T>C (p.Leu1343Pro)
n.4324T>C
2g.71611529T>GCA347228520DYSFc.1538T>G (p.Leu513Arg)
c.755T>G (p.Leu252Arg)
c.713T>G (p.Leu238Arg)
c.4070T>G (p.Leu1357Arg)
c.4124T>G (p.Leu1375Arg)
c.4073T>G (p.Leu1358Arg)
c.4121T>G (p.Leu1374Arg)
c.4166T>G (p.Leu1389Arg)
c.4031T>G (p.Leu1344Arg)
c.4163T>G (p.Leu1388Arg)
n.306T>G
n.454T>G
n.955T>G
n.289T>G
n.368T>G
c.4028T>G (p.Leu1343Arg)
n.4324T>G
2g.71611530C>ACA426758603DYSFc.1539C>A (p.Leu513=)
c.756C>A (p.Leu252=)
c.714C>A (p.Leu238=)
c.4071C>A (p.Leu1357=)
c.4125C>A (p.Leu1375=)
c.4074C>A (p.Leu1358=)
c.4122C>A (p.Leu1374=)
c.4167C>A (p.Leu1389=)
c.4032C>A (p.Leu1344=)
c.4164C>A (p.Leu1388=)
n.307C>A
n.455C>A
n.956C>A
n.290C>A
n.369C>A
c.4029C>A (p.Leu1343=)
n.4325C>A
2g.71611530C=CA1260124152DYSFc.1539C= (p.Leu513=)
c.756C= (p.Leu252=)
c.714C= (p.Leu238=)
c.4071C= (p.Leu1357=)
c.4125C= (p.Leu1375=)
c.4074C= (p.Leu1358=)
c.4122C= (p.Leu1374=)
c.4167C= (p.Leu1389=)
c.4032C= (p.Leu1344=)
c.4164C= (p.Leu1388=)
n.307C=
n.455C=
n.956C=
n.290C=
n.369C=
c.4029C= (p.Leu1343=)
n.4325C=
2g.71611530C>GCA426758604DYSFc.1539C>G (p.Leu513=)
c.756C>G (p.Leu252=)
c.714C>G (p.Leu238=)
c.4071C>G (p.Leu1357=)
c.4125C>G (p.Leu1375=)
c.4074C>G (p.Leu1358=)
c.4122C>G (p.Leu1374=)
c.4167C>G (p.Leu1389=)
c.4032C>G (p.Leu1344=)
c.4164C>G (p.Leu1388=)
n.307C>G
n.455C>G
n.956C>G
n.290C>G
n.369C>G
c.4029C>G (p.Leu1343=)
n.4325C>G
 gnomAD v3 gnomAD v4
2g.71611530C>TCA1706897DYSFc.1539C>T (p.Leu513=)
c.756C>T (p.Leu252=)
c.714C>T (p.Leu238=)
c.4071C>T (p.Leu1357=)
c.4125C>T (p.Leu1375=)
c.4074C>T (p.Leu1358=)
c.4122C>T (p.Leu1374=)
c.4167C>T (p.Leu1389=)
c.4032C>T (p.Leu1344=)
c.4164C>T (p.Leu1388=)
n.307C>T
n.455C>T
n.956C>T
n.290C>T
n.369C>T
c.4029C>T (p.Leu1343=)
n.4325C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71611531G>ACA1706898DYSFc.1540G>A (p.Val514Met)
c.757G>A (p.Val253Met)
c.715G>A (p.Val239Met)
c.4072G>A (p.Val1358Met)
c.4126G>A (p.Val1376Met)
c.4075G>A (p.Val1359Met)
c.4123G>A (p.Val1375Met)
c.4168G>A (p.Val1390Met)
c.4033G>A (p.Val1345Met)
c.4165G>A (p.Val1389Met)
n.308G>A
n.456G>A
n.957G>A
n.291G>A
n.370G>A
c.4030G>A (p.Val1344Met)
n.4326G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71611531G>CCA347228522DYSFc.1540G>C (p.Val514Leu)
c.757G>C (p.Val253Leu)
c.715G>C (p.Val239Leu)
c.4072G>C (p.Val1358Leu)
c.4126G>C (p.Val1376Leu)
c.4075G>C (p.Val1359Leu)
c.4123G>C (p.Val1375Leu)
c.4168G>C (p.Val1390Leu)
c.4033G>C (p.Val1345Leu)
c.4165G>C (p.Val1389Leu)
n.308G>C
n.456G>C
n.957G>C
n.291G>C
n.370G>C
c.4030G>C (p.Val1344Leu)
n.4326G>C
 dbSNP gnomAD v2 gnomAD v4
2g.71611531G=CA1260124153DYSFc.1540G= (p.Val514=)
c.757G= (p.Val253=)
c.715G= (p.Val239=)
c.4072G= (p.Val1358=)
c.4126G= (p.Val1376=)
c.4075G= (p.Val1359=)
c.4123G= (p.Val1375=)
c.4168G= (p.Val1390=)
c.4033G= (p.Val1345=)
c.4165G= (p.Val1389=)
n.308G=
n.456G=
n.957G=
n.291G=
n.370G=
c.4030G= (p.Val1344=)
n.4326G=
2g.71611531G>TCA347228521DYSFc.1540G>T (p.Val514Leu)
c.757G>T (p.Val253Leu)
c.715G>T (p.Val239Leu)
c.4072G>T (p.Val1358Leu)
c.4126G>T (p.Val1376Leu)
c.4075G>T (p.Val1359Leu)
c.4123G>T (p.Val1375Leu)
c.4168G>T (p.Val1390Leu)
c.4033G>T (p.Val1345Leu)
c.4165G>T (p.Val1389Leu)
n.308G>T
n.456G>T
n.957G>T
n.291G>T
n.370G>T
c.4030G>T (p.Val1344Leu)
n.4326G>T
2g.71611532T>ACA347228523DYSFc.1541T>A (p.Val514Glu)
c.758T>A (p.Val253Glu)
c.716T>A (p.Val239Glu)
c.4073T>A (p.Val1358Glu)
c.4127T>A (p.Val1376Glu)
c.4076T>A (p.Val1359Glu)
c.4124T>A (p.Val1375Glu)
c.4169T>A (p.Val1390Glu)
c.4034T>A (p.Val1345Glu)
c.4166T>A (p.Val1389Glu)
n.309T>A
n.457T>A
n.958T>A
n.292T>A
n.371T>A
c.4031T>A (p.Val1344Glu)
n.4327T>A
 ClinVar dbSNP gnomAD v4
2g.71611532T>CCA347228524DYSFc.1541T>C (p.Val514Ala)
c.758T>C (p.Val253Ala)
c.716T>C (p.Val239Ala)
c.4073T>C (p.Val1358Ala)
c.4127T>C (p.Val1376Ala)
c.4076T>C (p.Val1359Ala)
c.4124T>C (p.Val1375Ala)
c.4169T>C (p.Val1390Ala)
c.4034T>C (p.Val1345Ala)
c.4166T>C (p.Val1389Ala)
n.309T>C
n.457T>C
n.958T>C
n.292T>C
n.371T>C
c.4031T>C (p.Val1344Ala)
n.4327T>C
2g.71611532T>GCA347228525DYSFc.1541T>G (p.Val514Gly)
c.758T>G (p.Val253Gly)
c.716T>G (p.Val239Gly)
c.4073T>G (p.Val1358Gly)
c.4127T>G (p.Val1376Gly)
c.4076T>G (p.Val1359Gly)
c.4124T>G (p.Val1375Gly)
c.4169T>G (p.Val1390Gly)
c.4034T>G (p.Val1345Gly)
c.4166T>G (p.Val1389Gly)
n.309T>G
n.457T>G
n.958T>G
n.292T>G
n.371T>G
c.4031T>G (p.Val1344Gly)
n.4327T>G
2g.71611532T=CA1260124154DYSFc.1541T= (p.Val514=)
c.758T= (p.Val253=)
c.716T= (p.Val239=)
c.4073T= (p.Val1358=)
c.4127T= (p.Val1376=)
c.4076T= (p.Val1359=)
c.4124T= (p.Val1375=)
c.4169T= (p.Val1390=)
c.4034T= (p.Val1345=)
c.4166T= (p.Val1389=)
n.309T=
n.457T=
n.958T=
n.292T=
n.371T=
c.4031T= (p.Val1344=)
n.4327T=
2g.71611533G>ACA426758608DYSFc.1542G>A (p.Val514=)
c.759G>A (p.Val253=)
c.717G>A (p.Val239=)
c.4074G>A (p.Val1358=)
c.4128G>A (p.Val1376=)
c.4077G>A (p.Val1359=)
c.4125G>A (p.Val1375=)
c.4170G>A (p.Val1390=)
c.4035G>A (p.Val1345=)
c.4167G>A (p.Val1389=)
n.310G>A
n.458G>A
n.959G>A
n.293G>A
n.372G>A
c.4032G>A (p.Val1344=)
n.4328G>A
2g.71611533G>CCA426758609DYSFc.1542G>C (p.Val514=)
c.759G>C (p.Val253=)
c.717G>C (p.Val239=)
c.4074G>C (p.Val1358=)
c.4128G>C (p.Val1376=)
c.4077G>C (p.Val1359=)
c.4125G>C (p.Val1375=)
c.4170G>C (p.Val1390=)
c.4035G>C (p.Val1345=)
c.4167G>C (p.Val1389=)
n.310G>C
n.458G>C
n.959G>C
n.293G>C
n.372G>C
c.4032G>C (p.Val1344=)
n.4328G>C
2g.71611533G>TCA426758606DYSFc.1542G>T (p.Val514=)
c.759G>T (p.Val253=)
c.717G>T (p.Val239=)
c.4074G>T (p.Val1358=)
c.4128G>T (p.Val1376=)
c.4077G>T (p.Val1359=)
c.4125G>T (p.Val1375=)
c.4170G>T (p.Val1390=)
c.4035G>T (p.Val1345=)
c.4167G>T (p.Val1389=)
n.310G>T
n.458G>T
n.959G>T
n.293G>T
n.372G>T
c.4032G>T (p.Val1344=)
n.4328G>T
2g.71611534G>ACA1706899DYSFc.1543G>A (p.Val515Ile)
c.760G>A (p.Val254Ile)
c.718G>A (p.Val240Ile)
c.4075G>A (p.Val1359Ile)
c.4129G>A (p.Val1377Ile)
c.4078G>A (p.Val1360Ile)
c.4126G>A (p.Val1376Ile)
c.4171G>A (p.Val1391Ile)
c.4036G>A (p.Val1346Ile)
c.4168G>A (p.Val1390Ile)
n.311G>A
n.459G>A
n.960G>A
n.294G>A
n.373G>A
c.4033G>A (p.Val1345Ile)
n.4329G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71611534G>CCA347228526DYSFc.1543G>C (p.Val515Leu)
c.760G>C (p.Val254Leu)
c.718G>C (p.Val240Leu)
c.4075G>C (p.Val1359Leu)
c.4129G>C (p.Val1377Leu)
c.4078G>C (p.Val1360Leu)
c.4126G>C (p.Val1376Leu)
c.4171G>C (p.Val1391Leu)
c.4036G>C (p.Val1346Leu)
c.4168G>C (p.Val1390Leu)
n.311G>C
n.459G>C
n.960G>C
n.294G>C
n.373G>C
c.4033G>C (p.Val1345Leu)
n.4329G>C
2g.71611534G=CA1260124155DYSFc.1543G= (p.Val515=)
c.760G= (p.Val254=)
c.718G= (p.Val240=)
c.4075G= (p.Val1359=)
c.4129G= (p.Val1377=)
c.4078G= (p.Val1360=)
c.4126G= (p.Val1376=)
c.4171G= (p.Val1391=)
c.4036G= (p.Val1346=)
c.4168G= (p.Val1390=)
n.311G=
n.459G=
n.960G=
n.294G=
n.373G=
c.4033G= (p.Val1345=)
n.4329G=
2g.71611534G>TCA347228527DYSFc.1543G>T (p.Val515Leu)
c.760G>T (p.Val254Leu)
c.718G>T (p.Val240Leu)
c.4075G>T (p.Val1359Leu)
c.4129G>T (p.Val1377Leu)
c.4078G>T (p.Val1360Leu)
c.4126G>T (p.Val1376Leu)
c.4171G>T (p.Val1391Leu)
c.4036G>T (p.Val1346Leu)
c.4168G>T (p.Val1390Leu)
n.311G>T
n.459G>T
n.960G>T
n.294G>T
n.373G>T
c.4033G>T (p.Val1345Leu)
n.4329G>T
 dbSNP gnomAD v4
2g.71611535T>ACA347228528DYSFc.1544T>A (p.Val515Glu)
c.761T>A (p.Val254Glu)
c.719T>A (p.Val240Glu)
c.4076T>A (p.Val1359Glu)
c.4130T>A (p.Val1377Glu)
c.4079T>A (p.Val1360Glu)
c.4127T>A (p.Val1376Glu)
c.4172T>A (p.Val1391Glu)
c.4037T>A (p.Val1346Glu)
c.4169T>A (p.Val1390Glu)
n.312T>A
n.460T>A
n.961T>A
n.295T>A
n.374T>A
c.4034T>A (p.Val1345Glu)
n.4330T>A
2g.71611535T>CCA347228529DYSFc.1544T>C (p.Val515Ala)
c.761T>C (p.Val254Ala)
c.719T>C (p.Val240Ala)
c.4076T>C (p.Val1359Ala)
c.4130T>C (p.Val1377Ala)
c.4079T>C (p.Val1360Ala)
c.4127T>C (p.Val1376Ala)
c.4172T>C (p.Val1391Ala)
c.4037T>C (p.Val1346Ala)
c.4169T>C (p.Val1390Ala)
n.312T>C
n.460T>C
n.961T>C
n.295T>C
n.374T>C
c.4034T>C (p.Val1345Ala)
n.4330T>C
2g.71611535T>GCA347228530DYSFc.1544T>G (p.Val515Gly)
c.761T>G (p.Val254Gly)
c.719T>G (p.Val240Gly)
c.4076T>G (p.Val1359Gly)
c.4130T>G (p.Val1377Gly)
c.4079T>G (p.Val1360Gly)
c.4127T>G (p.Val1376Gly)
c.4172T>G (p.Val1391Gly)
c.4037T>G (p.Val1346Gly)
c.4169T>G (p.Val1390Gly)
n.312T>G
n.460T>G
n.961T>G
n.295T>G
n.374T>G
c.4034T>G (p.Val1345Gly)
n.4330T>G
2g.71611536A>CCA426758615DYSFc.1545A>C (p.Val515=)
c.762A>C (p.Val254=)
c.720A>C (p.Val240=)
c.4077A>C (p.Val1359=)
c.4131A>C (p.Val1377=)
c.4080A>C (p.Val1360=)
c.4128A>C (p.Val1376=)
c.4173A>C (p.Val1391=)
c.4038A>C (p.Val1346=)
c.4170A>C (p.Val1390=)
n.313A>C
n.461A>C
n.962A>C
n.296A>C
n.375A>C
c.4035A>C (p.Val1345=)
n.4331A>C
2g.71611536A>GCA426758614DYSFc.1545A>G (p.Val515=)
c.762A>G (p.Val254=)
c.720A>G (p.Val240=)
c.4077A>G (p.Val1359=)
c.4131A>G (p.Val1377=)
c.4080A>G (p.Val1360=)
c.4128A>G (p.Val1376=)
c.4173A>G (p.Val1391=)
c.4038A>G (p.Val1346=)
c.4170A>G (p.Val1390=)
n.313A>G
n.461A>G
n.962A>G
n.296A>G
n.375A>G
c.4035A>G (p.Val1345=)
n.4331A>G
2g.71611536A>TCA426758613DYSFc.1545A>T (p.Val515=)
c.762A>T (p.Val254=)
c.720A>T (p.Val240=)
c.4077A>T (p.Val1359=)
c.4131A>T (p.Val1377=)
c.4080A>T (p.Val1360=)
c.4128A>T (p.Val1376=)
c.4173A>T (p.Val1391=)
c.4038A>T (p.Val1346=)
c.4170A>T (p.Val1390=)
n.313A>T
n.461A>T
n.962A>T
n.296A>T
n.375A>T
c.4035A>T (p.Val1345=)
n.4331A>T
2g.71611537G>ACA347228531DYSFc.1546G>A (p.Glu516Lys)
c.763G>A (p.Glu255Lys)
c.721G>A (p.Glu241Lys)
c.4078G>A (p.Glu1360Lys)
c.4132G>A (p.Glu1378Lys)
c.4081G>A (p.Glu1361Lys)
c.4129G>A (p.Glu1377Lys)
c.4174G>A (p.Glu1392Lys)
c.4039G>A (p.Glu1347Lys)
c.4171G>A (p.Glu1391Lys)
n.314G>A
n.462G>A
n.963G>A
n.297G>A
n.376G>A
c.4036G>A (p.Glu1346Lys)
n.4332G>A
 gnomAD v4
2g.71611537G>CCA347228532DYSFc.1546G>C (p.Glu516Gln)
c.763G>C (p.Glu255Gln)
c.721G>C (p.Glu241Gln)
c.4078G>C (p.Glu1360Gln)
c.4132G>C (p.Glu1378Gln)
c.4081G>C (p.Glu1361Gln)
c.4129G>C (p.Glu1377Gln)
c.4174G>C (p.Glu1392Gln)
c.4039G>C (p.Glu1347Gln)
c.4171G>C (p.Glu1391Gln)
n.314G>C
n.462G>C
n.963G>C
n.297G>C
n.376G>C
c.4036G>C (p.Glu1346Gln)
n.4332G>C
2g.71611537G>TCA347228533DYSFc.1546G>T (p.Glu516Ter)
c.763G>T (p.Glu255Ter)
c.721G>T (p.Glu241Ter)
c.4078G>T (p.Glu1360Ter)
c.4132G>T (p.Glu1378Ter)
c.4081G>T (p.Glu1361Ter)
c.4129G>T (p.Glu1377Ter)
c.4174G>T (p.Glu1392Ter)
c.4039G>T (p.Glu1347Ter)
c.4171G>T (p.Glu1391Ter)
n.314G>T
n.462G>T
n.963G>T
n.297G>T
n.376G>T
c.4036G>T (p.Glu1346Ter)
n.4332G>T
2g.71611538A>CCA347228535DYSFc.1547A>C (p.Glu516Ala)
c.764A>C (p.Glu255Ala)
c.722A>C (p.Glu241Ala)
c.4079A>C (p.Glu1360Ala)
c.4133A>C (p.Glu1378Ala)
c.4082A>C (p.Glu1361Ala)
c.4130A>C (p.Glu1377Ala)
c.4175A>C (p.Glu1392Ala)
c.4040A>C (p.Glu1347Ala)
c.4172A>C (p.Glu1391Ala)
n.315A>C
n.463A>C
n.964A>C
n.298A>C
n.377A>C
c.4037A>C (p.Glu1346Ala)
n.4333A>C
 gnomAD v4
2g.71611538A>GCA347228536DYSFc.1547A>G (p.Glu516Gly)
c.764A>G (p.Glu255Gly)
c.722A>G (p.Glu241Gly)
c.4079A>G (p.Glu1360Gly)
c.4133A>G (p.Glu1378Gly)
c.4082A>G (p.Glu1361Gly)
c.4130A>G (p.Glu1377Gly)
c.4175A>G (p.Glu1392Gly)
c.4040A>G (p.Glu1347Gly)
c.4172A>G (p.Glu1391Gly)
n.315A>G
n.463A>G
n.964A>G
n.298A>G
n.377A>G
c.4037A>G (p.Glu1346Gly)
n.4333A>G
2g.71611538A>TCA347228534DYSFc.1547A>T (p.Glu516Val)
c.764A>T (p.Glu255Val)
c.722A>T (p.Glu241Val)
c.4079A>T (p.Glu1360Val)
c.4133A>T (p.Glu1378Val)
c.4082A>T (p.Glu1361Val)
c.4130A>T (p.Glu1377Val)
c.4175A>T (p.Glu1392Val)
c.4040A>T (p.Glu1347Val)
c.4172A>T (p.Glu1391Val)
n.315A>T
n.463A>T
n.964A>T
n.298A>T
n.377A>T
c.4037A>T (p.Glu1346Val)
n.4333A>T
2g.71611539G>ACA426758640DYSFc.1548G>A (p.Glu516=)
c.765G>A (p.Glu255=)
c.723G>A (p.Glu241=)
c.4080G>A (p.Glu1360=)
c.4134G>A (p.Glu1378=)
c.4083G>A (p.Glu1361=)
c.4131G>A (p.Glu1377=)
c.4176G>A (p.Glu1392=)
c.4041G>A (p.Glu1347=)
c.4173G>A (p.Glu1391=)
n.316G>A
n.464G>A
n.965G>A
n.299G>A
n.378G>A
c.4038G>A (p.Glu1346=)
n.4334G>A
 gnomAD v4
2g.71611539G>CCA347228537DYSFc.1548G>C (p.Glu516Asp)
c.765G>C (p.Glu255Asp)
c.723G>C (p.Glu241Asp)
c.4080G>C (p.Glu1360Asp)
c.4134G>C (p.Glu1378Asp)
c.4083G>C (p.Glu1361Asp)
c.4131G>C (p.Glu1377Asp)
c.4176G>C (p.Glu1392Asp)
c.4041G>C (p.Glu1347Asp)
c.4173G>C (p.Glu1391Asp)
n.316G>C
n.464G>C
n.965G>C
n.299G>C
n.378G>C
c.4038G>C (p.Glu1346Asp)
n.4334G>C
2g.71611539G>TCA347228538DYSFc.1548G>T (p.Glu516Asp)
c.765G>T (p.Glu255Asp)
c.723G>T (p.Glu241Asp)
c.4080G>T (p.Glu1360Asp)
c.4134G>T (p.Glu1378Asp)
c.4083G>T (p.Glu1361Asp)
c.4131G>T (p.Glu1377Asp)
c.4176G>T (p.Glu1392Asp)
c.4041G>T (p.Glu1347Asp)
c.4173G>T (p.Glu1391Asp)
n.316G>T
n.464G>T
n.965G>T
n.299G>T
n.378G>T
c.4038G>T (p.Glu1346Asp)
n.4334G>T
2g.71611540T>ACA347228539DYSFc.1549T>A (p.Cys517Ser)
c.766T>A (p.Cys256Ser)
c.724T>A (p.Cys242Ser)
c.4081T>A (p.Cys1361Ser)
c.4135T>A (p.Cys1379Ser)
c.4084T>A (p.Cys1362Ser)
c.4132T>A (p.Cys1378Ser)
c.4177T>A (p.Cys1393Ser)
c.4042T>A (p.Cys1348Ser)
c.4174T>A (p.Cys1392Ser)
n.317T>A
n.465T>A
n.966T>A
n.300T>A
n.379T>A
c.4039T>A (p.Cys1347Ser)
n.4335T>A
2g.71611540T>CCA1706900DYSFc.1549T>C (p.Cys517Arg)
c.766T>C (p.Cys256Arg)
c.724T>C (p.Cys242Arg)
c.4081T>C (p.Cys1361Arg)
c.4135T>C (p.Cys1379Arg)
c.4084T>C (p.Cys1362Arg)
c.4132T>C (p.Cys1378Arg)
c.4177T>C (p.Cys1393Arg)
c.4042T>C (p.Cys1348Arg)
c.4174T>C (p.Cys1392Arg)
n.317T>C
n.465T>C
n.966T>C
n.300T>C
n.379T>C
c.4039T>C (p.Cys1347Arg)
n.4335T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71611540T>GCA347228540DYSFc.1549T>G (p.Cys517Gly)
c.766T>G (p.Cys256Gly)
c.724T>G (p.Cys242Gly)
c.4081T>G (p.Cys1361Gly)
c.4135T>G (p.Cys1379Gly)
c.4084T>G (p.Cys1362Gly)
c.4132T>G (p.Cys1378Gly)
c.4177T>G (p.Cys1393Gly)
c.4042T>G (p.Cys1348Gly)
c.4174T>G (p.Cys1392Gly)
n.317T>G
n.465T>G
n.966T>G
n.300T>G
n.379T>G
c.4039T>G (p.Cys1347Gly)
n.4335T>G
 gnomAD v4
2g.71611540T=CA1260124156DYSFc.1549T= (p.Cys517=)
c.766T= (p.Cys256=)
c.724T= (p.Cys242=)
c.4081T= (p.Cys1361=)
c.4135T= (p.Cys1379=)
c.4084T= (p.Cys1362=)
c.4132T= (p.Cys1378=)
c.4177T= (p.Cys1393=)
c.4042T= (p.Cys1348=)
c.4174T= (p.Cys1392=)
n.317T=
n.465T=
n.966T=
n.300T=
n.379T=
c.4039T= (p.Cys1347=)
n.4335T=
2g.71611541G>ACA347228543DYSFc.1550G>A (p.Cys517Tyr)
c.767G>A (p.Cys256Tyr)
c.725G>A (p.Cys242Tyr)
c.4082G>A (p.Cys1361Tyr)
c.4136G>A (p.Cys1379Tyr)
c.4085G>A (p.Cys1362Tyr)
c.4133G>A (p.Cys1378Tyr)
c.4178G>A (p.Cys1393Tyr)
c.4043G>A (p.Cys1348Tyr)
c.4175G>A (p.Cys1392Tyr)
n.318G>A
n.466G>A
n.967G>A
n.301G>A
n.380G>A
c.4040G>A (p.Cys1347Tyr)
n.4336G>A
 gnomAD v4
2g.71611541G>CCA347228541DYSFc.1550G>C (p.Cys517Ser)
c.767G>C (p.Cys256Ser)
c.725G>C (p.Cys242Ser)
c.4082G>C (p.Cys1361Ser)
c.4136G>C (p.Cys1379Ser)
c.4085G>C (p.Cys1362Ser)
c.4133G>C (p.Cys1378Ser)
c.4178G>C (p.Cys1393Ser)
c.4043G>C (p.Cys1348Ser)
c.4175G>C (p.Cys1392Ser)
n.318G>C
n.466G>C
n.967G>C
n.301G>C
n.380G>C
c.4040G>C (p.Cys1347Ser)
n.4336G>C
2g.71611541G>TCA347228542DYSFc.1550G>T (p.Cys517Phe)
c.767G>T (p.Cys256Phe)
c.725G>T (p.Cys242Phe)
c.4082G>T (p.Cys1361Phe)
c.4136G>T (p.Cys1379Phe)
c.4085G>T (p.Cys1362Phe)
c.4133G>T (p.Cys1378Phe)
c.4178G>T (p.Cys1393Phe)
c.4043G>T (p.Cys1348Phe)
c.4175G>T (p.Cys1392Phe)
n.318G>T
n.466G>T
n.967G>T
n.301G>T
n.380G>T
c.4040G>T (p.Cys1347Phe)
n.4336G>T
2g.71611542delCA658820650DYSFc.1551del (p.Cys517TrpfsTer29)
c.768del (p.Cys256TrpfsTer29)
c.726del (p.Cys242TrpfsTer29)
c.4083del (p.Cys1361TrpfsTer29)
c.4137del (p.Cys1379TrpfsTer29)
c.4086del (p.Cys1362TrpfsTer29)
c.4134del (p.Cys1378TrpfsTer29)
c.4179del (p.Cys1393TrpfsTer29)
c.4044del (p.Cys1348TrpfsTer29)
c.4176del (p.Cys1392TrpfsTer29)
n.319del
n.467del
n.968del
n.302del
n.381del
c.4041del (p.Cys1347TrpfsTer29)
n.4337del
2g.71611542T>ACA347228544DYSFc.1551T>A (p.Cys517Ter)
c.768T>A (p.Cys256Ter)
c.726T>A (p.Cys242Ter)
c.4083T>A (p.Cys1361Ter)
c.4137T>A (p.Cys1379Ter)
c.4086T>A (p.Cys1362Ter)
c.4134T>A (p.Cys1378Ter)
c.4179T>A (p.Cys1393Ter)
c.4044T>A (p.Cys1348Ter)
c.4176T>A (p.Cys1392Ter)
n.319T>A
n.467T>A
n.968T>A
n.302T>A
n.381T>A
c.4041T>A (p.Cys1347Ter)
n.4337T>A
2g.71611542T>CCA426758647DYSFc.1551T>C (p.Cys517=)
c.768T>C (p.Cys256=)
c.726T>C (p.Cys242=)
c.4083T>C (p.Cys1361=)
c.4137T>C (p.Cys1379=)
c.4086T>C (p.Cys1362=)
c.4134T>C (p.Cys1378=)
c.4179T>C (p.Cys1393=)
c.4044T>C (p.Cys1348=)
c.4176T>C (p.Cys1392=)
n.319T>C
n.467T>C
n.968T>C
n.302T>C
n.381T>C
c.4041T>C (p.Cys1347=)
n.4337T>C
 gnomAD v4
2g.71611542T>GCA1706901DYSFc.1551T>G (p.Cys517Trp)
c.768T>G (p.Cys256Trp)
c.726T>G (p.Cys242Trp)
c.4083T>G (p.Cys1361Trp)
c.4137T>G (p.Cys1379Trp)
c.4086T>G (p.Cys1362Trp)
c.4134T>G (p.Cys1378Trp)
c.4179T>G (p.Cys1393Trp)
c.4044T>G (p.Cys1348Trp)
c.4176T>G (p.Cys1392Trp)
n.319T>G
n.467T>G
n.968T>G
n.302T>G
n.381T>G
c.4041T>G (p.Cys1347Trp)
n.4337T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71611542T=CA1260124157DYSFc.1551T= (p.Cys517=)
c.768T= (p.Cys256=)
c.726T= (p.Cys242=)
c.4083T= (p.Cys1361=)
c.4137T= (p.Cys1379=)
c.4086T= (p.Cys1362=)
c.4134T= (p.Cys1378=)
c.4179T= (p.Cys1393=)
c.4044T= (p.Cys1348=)
c.4176T= (p.Cys1392=)
n.319T=
n.467T=
n.968T=
n.302T=
n.381T=
c.4041T= (p.Cys1347=)
n.4337T=
2g.71611542dupCA2750416525DYSFc.1551dup (p.Gly518TrpfsTer20)
c.768dup (p.Gly257TrpfsTer20)
c.726dup (p.Gly243TrpfsTer20)
c.4083dup (p.Gly1362TrpfsTer20)
c.4137dup (p.Gly1380TrpfsTer20)
c.4086dup (p.Gly1363TrpfsTer20)
c.4134dup (p.Gly1379TrpfsTer20)
c.4179dup (p.Gly1394TrpfsTer20)
c.4044dup (p.Gly1349TrpfsTer20)
c.4176dup (p.Gly1393TrpfsTer20)
n.319dup
n.467dup
n.968dup
n.302dup
n.381dup
c.4041dup (p.Gly1348TrpfsTer20)
n.4337dup
2g.71611543G>ACA347228545DYSFc.1552G>A (p.Gly518Arg)
c.769G>A (p.Gly257Arg)
c.727G>A (p.Gly243Arg)
c.4084G>A (p.Gly1362Arg)
c.4138G>A (p.Gly1380Arg)
c.4087G>A (p.Gly1363Arg)
c.4135G>A (p.Gly1379Arg)
c.4180G>A (p.Gly1394Arg)
c.4045G>A (p.Gly1349Arg)
c.4177G>A (p.Gly1393Arg)
n.320G>A
n.468G>A
n.969G>A
n.303G>A
n.382G>A
c.4042G>A (p.Gly1348Arg)
n.4338G>A
 gnomAD v4
2g.71611543G>CCA347228546DYSFc.1552G>C (p.Gly518Arg)
c.769G>C (p.Gly257Arg)
c.727G>C (p.Gly243Arg)
c.4084G>C (p.Gly1362Arg)
c.4138G>C (p.Gly1380Arg)
c.4087G>C (p.Gly1363Arg)
c.4135G>C (p.Gly1379Arg)
c.4180G>C (p.Gly1394Arg)
c.4045G>C (p.Gly1349Arg)
c.4177G>C (p.Gly1393Arg)
n.320G>C
n.468G>C
n.969G>C
n.303G>C
n.382G>C
c.4042G>C (p.Gly1348Arg)
n.4338G>C
 dbSNP gnomAD v2
2g.71611543G=CA1260124158DYSFc.1552G= (p.Gly518=)
c.769G= (p.Gly257=)
c.727G= (p.Gly243=)
c.4084G= (p.Gly1362=)
c.4138G= (p.Gly1380=)
c.4087G= (p.Gly1363=)
c.4135G= (p.Gly1379=)
c.4180G= (p.Gly1394=)
c.4045G= (p.Gly1349=)
c.4177G= (p.Gly1393=)
n.320G=
n.468G=
n.969G=
n.303G=
n.382G=
c.4042G= (p.Gly1348=)
n.4338G=
2g.71611543G>TCA347228547DYSFc.1552G>T (p.Gly518Trp)
c.769G>T (p.Gly257Trp)
c.727G>T (p.Gly243Trp)
c.4084G>T (p.Gly1362Trp)
c.4138G>T (p.Gly1380Trp)
c.4087G>T (p.Gly1363Trp)
c.4135G>T (p.Gly1379Trp)
c.4180G>T (p.Gly1394Trp)
c.4045G>T (p.Gly1349Trp)
c.4177G>T (p.Gly1393Trp)
n.320G>T
n.468G>T
n.969G>T
n.303G>T
n.382G>T
c.4042G>T (p.Gly1348Trp)
n.4338G>T
2g.71611547dupCA2740095629DYSFc.1556dup (p.Gln520ProfsTer18)
c.773dup (p.Gln259ProfsTer18)
c.731dup (p.Gln245ProfsTer18)
c.4088dup (p.Gln1364ProfsTer18)
c.4142dup (p.Gln1382ProfsTer18)
c.4091dup (p.Gln1365ProfsTer18)
c.4139dup (p.Gln1381ProfsTer18)
c.4184dup (p.Gln1396ProfsTer18)
c.4049dup (p.Gln1351ProfsTer18)
c.4181dup (p.Gln1395ProfsTer18)
n.324dup
n.472dup
n.973dup
n.307dup
n.386dup
c.4046dup (p.Gln1350ProfsTer18)
n.4342dup
 ClinVar
2g.71611546_71611547delCA2697548250DYSFc.1555_1556del (p.Gly519ProfsTer18)
c.772_773del (p.Gly258ProfsTer18)
c.730_731del (p.Gly244ProfsTer18)
c.4087_4088del (p.Gly1363ProfsTer18)
c.4141_4142del (p.Gly1381ProfsTer18)
c.4090_4091del (p.Gly1364ProfsTer18)
c.4138_4139del (p.Gly1380ProfsTer18)
c.4183_4184del (p.Gly1395ProfsTer18)
c.4048_4049del (p.Gly1350ProfsTer18)
c.4180_4181del (p.Gly1394ProfsTer18)
n.323_324del
n.471_472del
n.972_973del
n.306_307del
n.385_386del
c.4045_4046del (p.Gly1349ProfsTer18)
n.4341_4342del
 ClinVar
2g.71611544G>ACA347228550DYSFc.1553G>A (p.Gly518Glu)
c.770G>A (p.Gly257Glu)
c.728G>A (p.Gly243Glu)
c.4085G>A (p.Gly1362Glu)
c.4139G>A (p.Gly1380Glu)
c.4088G>A (p.Gly1363Glu)
c.4136G>A (p.Gly1379Glu)
c.4181G>A (p.Gly1394Glu)
c.4046G>A (p.Gly1349Glu)
c.4178G>A (p.Gly1393Glu)
n.321G>A
n.469G>A
n.970G>A
n.304G>A
n.383G>A
c.4043G>A (p.Gly1348Glu)
n.4339G>A
2g.71611544G>CCA347228549DYSFc.1553G>C (p.Gly518Ala)
c.770G>C (p.Gly257Ala)
c.728G>C (p.Gly243Ala)
c.4085G>C (p.Gly1362Ala)
c.4139G>C (p.Gly1380Ala)
c.4088G>C (p.Gly1363Ala)
c.4136G>C (p.Gly1379Ala)
c.4181G>C (p.Gly1394Ala)
c.4046G>C (p.Gly1349Ala)
c.4178G>C (p.Gly1393Ala)
n.321G>C
n.469G>C
n.970G>C
n.304G>C
n.383G>C
c.4043G>C (p.Gly1348Ala)
n.4339G>C
2g.71611544G>TCA347228548DYSFc.1553G>T (p.Gly518Val)
c.770G>T (p.Gly257Val)
c.728G>T (p.Gly243Val)
c.4085G>T (p.Gly1362Val)
c.4139G>T (p.Gly1380Val)
c.4088G>T (p.Gly1363Val)
c.4136G>T (p.Gly1379Val)
c.4181G>T (p.Gly1394Val)
c.4046G>T (p.Gly1349Val)
c.4178G>T (p.Gly1393Val)
n.321G>T
n.469G>T
n.970G>T
n.304G>T
n.383G>T
c.4043G>T (p.Gly1348Val)
n.4339G>T
2g.71611545G>ACA426758653DYSFc.1554G>A (p.Gly518=)
c.771G>A (p.Gly257=)
c.729G>A (p.Gly243=)
c.4086G>A (p.Gly1362=)
c.4140G>A (p.Gly1380=)
c.4089G>A (p.Gly1363=)
c.4137G>A (p.Gly1379=)
c.4182G>A (p.Gly1394=)
c.4047G>A (p.Gly1349=)
c.4179G>A (p.Gly1393=)
n.322G>A
n.470G>A
n.971G>A
n.305G>A
n.384G>A
c.4044G>A (p.Gly1348=)
n.4340G>A
2g.71611545G>CCA426758655DYSFc.1554G>C (p.Gly518=)
c.771G>C (p.Gly257=)
c.729G>C (p.Gly243=)
c.4086G>C (p.Gly1362=)
c.4140G>C (p.Gly1380=)
c.4089G>C (p.Gly1363=)
c.4137G>C (p.Gly1379=)
c.4182G>C (p.Gly1394=)
c.4047G>C (p.Gly1349=)
c.4179G>C (p.Gly1393=)
n.322G>C
n.470G>C
n.971G>C
n.305G>C
n.384G>C
c.4044G>C (p.Gly1348=)
n.4340G>C
2g.71611545G>TCA426758657DYSFc.1554G>T (p.Gly518=)
c.771G>T (p.Gly257=)
c.729G>T (p.Gly243=)
c.4086G>T (p.Gly1362=)
c.4140G>T (p.Gly1380=)
c.4089G>T (p.Gly1363=)
c.4137G>T (p.Gly1379=)
c.4182G>T (p.Gly1394=)
c.4047G>T (p.Gly1349=)
c.4179G>T (p.Gly1393=)
n.322G>T
n.470G>T
n.971G>T
n.305G>T
n.384G>T
c.4044G>T (p.Gly1348=)
n.4340G>T
2g.71611546G>ACA347228551DYSFc.1555G>A (p.Gly519Ser)
c.772G>A (p.Gly258Ser)
c.730G>A (p.Gly244Ser)
c.4087G>A (p.Gly1363Ser)
c.4141G>A (p.Gly1381Ser)
c.4090G>A (p.Gly1364Ser)
c.4138G>A (p.Gly1380Ser)
c.4183G>A (p.Gly1395Ser)
c.4048G>A (p.Gly1350Ser)
c.4180G>A (p.Gly1394Ser)
n.323G>A
n.471G>A
n.972G>A
n.306G>A
n.385G>A
c.4045G>A (p.Gly1349Ser)
n.4341G>A
2g.71611546G>CCA347228553DYSFc.1555G>C (p.Gly519Arg)
c.772G>C (p.Gly258Arg)
c.730G>C (p.Gly244Arg)
c.4087G>C (p.Gly1363Arg)
c.4141G>C (p.Gly1381Arg)
c.4090G>C (p.Gly1364Arg)
c.4138G>C (p.Gly1380Arg)
c.4183G>C (p.Gly1395Arg)
c.4048G>C (p.Gly1350Arg)
c.4180G>C (p.Gly1394Arg)
n.323G>C
n.471G>C
n.972G>C
n.306G>C
n.385G>C
c.4045G>C (p.Gly1349Arg)
n.4341G>C
2g.71611546G>TCA347228552DYSFc.1555G>T (p.Gly519Cys)
c.772G>T (p.Gly258Cys)
c.730G>T (p.Gly244Cys)
c.4087G>T (p.Gly1363Cys)
c.4141G>T (p.Gly1381Cys)
c.4090G>T (p.Gly1364Cys)
c.4138G>T (p.Gly1380Cys)
c.4183G>T (p.Gly1395Cys)
c.4048G>T (p.Gly1350Cys)
c.4180G>T (p.Gly1394Cys)
n.323G>T
n.471G>T
n.972G>T
n.306G>T
n.385G>T
c.4045G>T (p.Gly1349Cys)
n.4341G>T
2g.71611547G>ACA347228554DYSFc.1556G>A (p.Gly519Asp)
c.773G>A (p.Gly258Asp)
c.731G>A (p.Gly244Asp)
c.4088G>A (p.Gly1363Asp)
c.4142G>A (p.Gly1381Asp)
c.4091G>A (p.Gly1364Asp)
c.4139G>A (p.Gly1380Asp)
c.4184G>A (p.Gly1395Asp)
c.4049G>A (p.Gly1350Asp)
c.4181G>A (p.Gly1394Asp)
n.324G>A
n.472G>A
n.973G>A
n.307G>A
n.386G>A
c.4046G>A (p.Gly1349Asp)
n.4342G>A
2g.71611547G>CCA1706902DYSFc.1556G>C (p.Gly519Ala)
c.773G>C (p.Gly258Ala)
c.731G>C (p.Gly244Ala)
c.4088G>C (p.Gly1363Ala)
c.4142G>C (p.Gly1381Ala)
c.4091G>C (p.Gly1364Ala)
c.4139G>C (p.Gly1380Ala)
c.4184G>C (p.Gly1395Ala)
c.4049G>C (p.Gly1350Ala)
c.4181G>C (p.Gly1394Ala)
n.324G>C
n.472G>C
n.973G>C
n.307G>C
n.386G>C
c.4046G>C (p.Gly1349Ala)
n.4342G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71611547G=CA1260124159DYSFc.1556G= (p.Gly519=)
c.773G= (p.Gly258=)
c.731G= (p.Gly244=)
c.4088G= (p.Gly1363=)
c.4142G= (p.Gly1381=)
c.4091G= (p.Gly1364=)
c.4139G= (p.Gly1380=)
c.4184G= (p.Gly1395=)
c.4049G= (p.Gly1350=)
c.4181G= (p.Gly1394=)
n.324G=
n.472G=
n.973G=
n.307G=
n.386G=
c.4046G= (p.Gly1349=)
n.4342G=
2g.71611547G>TCA347228555DYSFc.1556G>T (p.Gly519Val)
c.773G>T (p.Gly258Val)
c.731G>T (p.Gly244Val)
c.4088G>T (p.Gly1363Val)
c.4142G>T (p.Gly1381Val)
c.4091G>T (p.Gly1364Val)
c.4139G>T (p.Gly1380Val)
c.4184G>T (p.Gly1395Val)
c.4049G>T (p.Gly1350Val)
c.4181G>T (p.Gly1394Val)
n.324G>T
n.472G>T
n.973G>T
n.307G>T
n.386G>T
c.4046G>T (p.Gly1349Val)
n.4342G>T
2g.71611548C>ACA426758659DYSFc.1557C>A (p.Gly519=)
c.774C>A (p.Gly258=)
c.732C>A (p.Gly244=)
c.4089C>A (p.Gly1363=)
c.4143C>A (p.Gly1381=)
c.4092C>A (p.Gly1364=)
c.4140C>A (p.Gly1380=)
c.4185C>A (p.Gly1395=)
c.4050C>A (p.Gly1350=)
c.4182C>A (p.Gly1394=)
n.325C>A
n.473C>A
n.974C>A
n.308C>A
n.387C>A
c.4047C>A (p.Gly1349=)
n.4343C>A
2g.71611548C=CA1260124160DYSFc.1557C= (p.Gly519=)
c.774C= (p.Gly258=)
c.732C= (p.Gly244=)
c.4089C= (p.Gly1363=)
c.4143C= (p.Gly1381=)
c.4092C= (p.Gly1364=)
c.4140C= (p.Gly1380=)
c.4185C= (p.Gly1395=)
c.4050C= (p.Gly1350=)
c.4182C= (p.Gly1394=)
n.325C=
n.473C=
n.974C=
n.308C=
n.387C=
c.4047C= (p.Gly1349=)
n.4343C=
2g.71611548C>GCA426758664DYSFc.1557C>G (p.Gly519=)
c.774C>G (p.Gly258=)
c.732C>G (p.Gly244=)
c.4089C>G (p.Gly1363=)
c.4143C>G (p.Gly1381=)
c.4092C>G (p.Gly1364=)
c.4140C>G (p.Gly1380=)
c.4185C>G (p.Gly1395=)
c.4050C>G (p.Gly1350=)
c.4182C>G (p.Gly1394=)
n.325C>G
n.473C>G
n.974C>G
n.308C>G
n.387C>G
c.4047C>G (p.Gly1349=)
n.4343C>G
2g.71611548C>TCA1706903DYSFc.1557C>T (p.Gly519=)
c.774C>T (p.Gly258=)
c.732C>T (p.Gly244=)
c.4089C>T (p.Gly1363=)
c.4143C>T (p.Gly1381=)
c.4092C>T (p.Gly1364=)
c.4140C>T (p.Gly1380=)
c.4185C>T (p.Gly1395=)
c.4050C>T (p.Gly1350=)
c.4182C>T (p.Gly1394=)
n.325C>T
n.473C>T
n.974C>T
n.308C>T
n.387C>T
c.4047C>T (p.Gly1349=)
n.4343C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71611549C>ACA347228556DYSFc.1558C>A (p.Gln520Lys)
c.775C>A (p.Gln259Lys)
c.733C>A (p.Gln245Lys)
c.4090C>A (p.Gln1364Lys)
c.4144C>A (p.Gln1382Lys)
c.4093C>A (p.Gln1365Lys)
c.4141C>A (p.Gln1381Lys)
c.4186C>A (p.Gln1396Lys)
c.4051C>A (p.Gln1351Lys)
c.4183C>A (p.Gln1395Lys)
n.326C>A
n.474C>A
n.975C>A
n.309C>A
n.388C>A
c.4048C>A (p.Gln1350Lys)
n.4344C>A
2g.71611549C=CA1260124161DYSFc.1558C= (p.Gln520=)
c.775C= (p.Gln259=)
c.733C= (p.Gln245=)
c.4090C= (p.Gln1364=)
c.4144C= (p.Gln1382=)
c.4093C= (p.Gln1365=)
c.4141C= (p.Gln1381=)
c.4186C= (p.Gln1396=)
c.4051C= (p.Gln1351=)
c.4183C= (p.Gln1395=)
n.326C=
n.474C=
n.975C=
n.309C=
n.388C=
c.4048C= (p.Gln1350=)
n.4344C=
2g.71611549C>GCA347228557DYSFc.1558C>G (p.Gln520Glu)
c.775C>G (p.Gln259Glu)
c.733C>G (p.Gln245Glu)
c.4090C>G (p.Gln1364Glu)
c.4144C>G (p.Gln1382Glu)
c.4093C>G (p.Gln1365Glu)
c.4141C>G (p.Gln1381Glu)
c.4186C>G (p.Gln1396Glu)
c.4051C>G (p.Gln1351Glu)
c.4183C>G (p.Gln1395Glu)
n.326C>G
n.474C>G
n.975C>G
n.309C>G
n.388C>G
c.4048C>G (p.Gln1350Glu)
n.4344C>G
2g.71611549C>TCA10603803DYSFc.1558C>T (p.Gln520Ter)
c.775C>T (p.Gln259Ter)
c.733C>T (p.Gln245Ter)
c.4090C>T (p.Gln1364Ter)
c.4144C>T (p.Gln1382Ter)
c.4093C>T (p.Gln1365Ter)
c.4141C>T (p.Gln1381Ter)
c.4186C>T (p.Gln1396Ter)
c.4051C>T (p.Gln1351Ter)
c.4183C>T (p.Gln1395Ter)
n.326C>T
n.474C>T
n.975C>T
n.309C>T
n.388C>T
c.4048C>T (p.Gln1350Ter)
n.4344C>T
 ClinVar dbSNP gnomAD v4
2g.71611550A>CCA347228560DYSFc.1559A>C (p.Gln520Pro)
c.776A>C (p.Gln259Pro)
c.734A>C (p.Gln245Pro)
c.4091A>C (p.Gln1364Pro)
c.4145A>C (p.Gln1382Pro)
c.4094A>C (p.Gln1365Pro)
c.4142A>C (p.Gln1381Pro)
c.4187A>C (p.Gln1396Pro)
c.4052A>C (p.Gln1351Pro)
c.4184A>C (p.Gln1395Pro)
n.327A>C
n.475A>C
n.976A>C
n.310A>C
n.389A>C
c.4049A>C (p.Gln1350Pro)
n.4345A>C
2g.71611550A>GCA347228558DYSFc.1559A>G (p.Gln520Arg)
c.776A>G (p.Gln259Arg)
c.734A>G (p.Gln245Arg)
c.4091A>G (p.Gln1364Arg)
c.4145A>G (p.Gln1382Arg)
c.4094A>G (p.Gln1365Arg)
c.4142A>G (p.Gln1381Arg)
c.4187A>G (p.Gln1396Arg)
c.4052A>G (p.Gln1351Arg)
c.4184A>G (p.Gln1395Arg)
n.327A>G
n.475A>G
n.976A>G
n.310A>G
n.389A>G
c.4049A>G (p.Gln1350Arg)
n.4345A>G
2g.71611550A>TCA347228559DYSFc.1559A>T (p.Gln520Leu)
c.776A>T (p.Gln259Leu)
c.734A>T (p.Gln245Leu)
c.4091A>T (p.Gln1364Leu)
c.4145A>T (p.Gln1382Leu)
c.4094A>T (p.Gln1365Leu)
c.4142A>T (p.Gln1381Leu)
c.4187A>T (p.Gln1396Leu)
c.4052A>T (p.Gln1351Leu)
c.4184A>T (p.Gln1395Leu)
n.327A>T
n.475A>T
n.976A>T
n.310A>T
n.389A>T
c.4049A>T (p.Gln1350Leu)
n.4345A>T
2g.71611551G>ACA426758672DYSFc.1560G>A (p.Gln520=)
c.777G>A (p.Gln259=)
c.735G>A (p.Gln245=)
c.4092G>A (p.Gln1364=)
c.4146G>A (p.Gln1382=)
c.4095G>A (p.Gln1365=)
c.4143G>A (p.Gln1381=)
c.4188G>A (p.Gln1396=)
c.4053G>A (p.Gln1351=)
c.4185G>A (p.Gln1395=)
n.328G>A
n.476G>A
n.977G>A
n.311G>A
n.390G>A
c.4050G>A (p.Gln1350=)
n.4346G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71611551G>CCA347228561DYSFc.1560G>C (p.Gln520His)
c.777G>C (p.Gln259His)
c.735G>C (p.Gln245His)
c.4092G>C (p.Gln1364His)
c.4146G>C (p.Gln1382His)
c.4095G>C (p.Gln1365His)
c.4143G>C (p.Gln1381His)
c.4188G>C (p.Gln1396His)
c.4053G>C (p.Gln1351His)
c.4185G>C (p.Gln1395His)
n.328G>C
n.476G>C
n.977G>C
n.311G>C
n.390G>C
c.4050G>C (p.Gln1350His)
n.4346G>C
2g.71611551G=CA1260124162DYSFc.1560G= (p.Gln520=)
c.777G= (p.Gln259=)
c.735G= (p.Gln245=)
c.4092G= (p.Gln1364=)
c.4146G= (p.Gln1382=)
c.4095G= (p.Gln1365=)
c.4143G= (p.Gln1381=)
c.4188G= (p.Gln1396=)
c.4053G= (p.Gln1351=)
c.4185G= (p.Gln1395=)
n.328G=
n.476G=
n.977G=
n.311G=
n.390G=
c.4050G= (p.Gln1350=)
n.4346G=
2g.71611551G>TCA347228562DYSFc.1560G>T (p.Gln520His)
c.777G>T (p.Gln259His)
c.735G>T (p.Gln245His)
c.4092G>T (p.Gln1364His)
c.4146G>T (p.Gln1382His)
c.4095G>T (p.Gln1365His)
c.4143G>T (p.Gln1381His)
c.4188G>T (p.Gln1396His)
c.4053G>T (p.Gln1351His)
c.4185G>T (p.Gln1395His)
n.328G>T
n.476G>T
n.977G>T
n.311G>T
n.390G>T
c.4050G>T (p.Gln1350His)
n.4346G>T
2g.71611552A>CCA347228563DYSFc.1561A>C (p.Thr521Pro)
c.778A>C (p.Thr260Pro)
c.736A>C (p.Thr246Pro)
c.4093A>C (p.Thr1365Pro)
c.4147A>C (p.Thr1383Pro)
c.4096A>C (p.Thr1366Pro)
c.4144A>C (p.Thr1382Pro)
c.4189A>C (p.Thr1397Pro)
c.4054A>C (p.Thr1352Pro)
c.4186A>C (p.Thr1396Pro)
n.329A>C
n.477A>C
n.978A>C
n.312A>C
n.391A>C
c.4051A>C (p.Thr1351Pro)
n.4347A>C
2g.71611552A>GCA347228564DYSFc.1561A>G (p.Thr521Ala)
c.778A>G (p.Thr260Ala)
c.736A>G (p.Thr246Ala)
c.4093A>G (p.Thr1365Ala)
c.4147A>G (p.Thr1383Ala)
c.4096A>G (p.Thr1366Ala)
c.4144A>G (p.Thr1382Ala)
c.4189A>G (p.Thr1397Ala)
c.4054A>G (p.Thr1352Ala)
c.4186A>G (p.Thr1396Ala)
n.329A>G
n.477A>G
n.978A>G
n.312A>G
n.391A>G
c.4051A>G (p.Thr1351Ala)
n.4347A>G
 gnomAD v4
2g.71611552A>TCA347228565DYSFc.1561A>T (p.Thr521Ser)
c.778A>T (p.Thr260Ser)
c.736A>T (p.Thr246Ser)
c.4093A>T (p.Thr1365Ser)
c.4147A>T (p.Thr1383Ser)
c.4096A>T (p.Thr1366Ser)
c.4144A>T (p.Thr1382Ser)
c.4189A>T (p.Thr1397Ser)
c.4054A>T (p.Thr1352Ser)
c.4186A>T (p.Thr1396Ser)
n.329A>T
n.477A>T
n.978A>T
n.312A>T
n.391A>T
c.4051A>T (p.Thr1351Ser)
n.4347A>T
2g.71611553C>ACA347228566DYSFc.1562C>A (p.Thr521Lys)
c.779C>A (p.Thr260Lys)
c.737C>A (p.Thr246Lys)
c.4094C>A (p.Thr1365Lys)
c.4148C>A (p.Thr1383Lys)
c.4097C>A (p.Thr1366Lys)
c.4145C>A (p.Thr1382Lys)
c.4190C>A (p.Thr1397Lys)
c.4055C>A (p.Thr1352Lys)
c.4187C>A (p.Thr1396Lys)
n.330C>A
n.478C>A
n.979C>A
n.313C>A
n.392C>A
c.4052C>A (p.Thr1351Lys)
n.4348C>A
 dbSNP gnomAD v2 gnomAD v4
2g.71611553C=CA1260124163DYSFc.1562C= (p.Thr521=)
c.779C= (p.Thr260=)
c.737C= (p.Thr246=)
c.4094C= (p.Thr1365=)
c.4148C= (p.Thr1383=)
c.4097C= (p.Thr1366=)
c.4145C= (p.Thr1382=)
c.4190C= (p.Thr1397=)
c.4055C= (p.Thr1352=)
c.4187C= (p.Thr1396=)
n.330C=
n.478C=
n.979C=
n.313C=
n.392C=
c.4052C= (p.Thr1351=)
n.4348C=
2g.71611553C>GCA347228567DYSFc.1562C>G (p.Thr521Arg)
c.779C>G (p.Thr260Arg)
c.737C>G (p.Thr246Arg)
c.4094C>G (p.Thr1365Arg)
c.4148C>G (p.Thr1383Arg)
c.4097C>G (p.Thr1366Arg)
c.4145C>G (p.Thr1382Arg)
c.4190C>G (p.Thr1397Arg)
c.4055C>G (p.Thr1352Arg)
c.4187C>G (p.Thr1396Arg)
n.330C>G
n.478C>G
n.979C>G
n.313C>G
n.392C>G
c.4052C>G (p.Thr1351Arg)
n.4348C>G
 dbSNP gnomAD v4
2g.71611553C>TCA1706904DYSFc.1562C>T (p.Thr521Met)
c.779C>T (p.Thr260Met)
c.737C>T (p.Thr246Met)
c.4094C>T (p.Thr1365Met)
c.4148C>T (p.Thr1383Met)
c.4097C>T (p.Thr1366Met)
c.4145C>T (p.Thr1382Met)
c.4190C>T (p.Thr1397Met)
c.4055C>T (p.Thr1352Met)
c.4187C>T (p.Thr1396Met)
n.330C>T
n.478C>T
n.979C>T
n.313C>T
n.392C>T
c.4052C>T (p.Thr1351Met)
n.4348C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched