Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71566439_71570715delCA1139532913DYSFc.2512-1512_3148del
c.2566-1512_3202del
c.2515-1512_3151del
c.2563-1512_3199del
c.2608-1512_3244del
c.2473-1512_3109del
c.2605-1512_3241del
c.2470-1512_3106del
n.2766-1512_3402del
2g.71566455_71570716delCA915942535DYSFc.2512-1496_3149del
c.2566-1496_3203del
c.2515-1496_3152del
c.2563-1496_3200del
c.2608-1496_3245del
c.2473-1496_3110del
c.2605-1496_3242del
c.2470-1496_3107del
n.2766-1496_3403del
ClinVar
2g.71566456_71570715delCA891842855DYSFc.2512-1495_3148del
c.2566-1495_3202del
c.2515-1495_3151del
c.2563-1495_3199del
c.2608-1495_3244del
c.2473-1495_3109del
c.2605-1495_3241del
c.2470-1495_3106del
n.2766-1495_3402del
ClinVar
2g.71570607T>ACA347216905DYSFc.466T>A (p.Tyr156Asn)
c.3040T>A (p.Tyr1014Asn)
c.3094T>A (p.Tyr1032Asn)
c.3043T>A (p.Tyr1015Asn)
c.3091T>A (p.Tyr1031Asn)
c.3136T>A (p.Tyr1046Asn)
c.3001T>A (p.Tyr1001Asn)
c.3133T>A (p.Tyr1045Asn)
n.206T>A
c.2998T>A (p.Tyr1000Asn)
n.3294T>A
2g.71570607T>CCA347216907DYSFc.466T>C (p.Tyr156His)
c.3040T>C (p.Tyr1014His)
c.3094T>C (p.Tyr1032His)
c.3043T>C (p.Tyr1015His)
c.3091T>C (p.Tyr1031His)
c.3136T>C (p.Tyr1046His)
c.3001T>C (p.Tyr1001His)
c.3133T>C (p.Tyr1045His)
n.206T>C
c.2998T>C (p.Tyr1000His)
n.3294T>C
2g.71570607T>GCA347216906DYSFc.466T>G (p.Tyr156Asp)
c.3040T>G (p.Tyr1014Asp)
c.3094T>G (p.Tyr1032Asp)
c.3043T>G (p.Tyr1015Asp)
c.3091T>G (p.Tyr1031Asp)
c.3136T>G (p.Tyr1046Asp)
c.3001T>G (p.Tyr1001Asp)
c.3133T>G (p.Tyr1045Asp)
n.206T>G
c.2998T>G (p.Tyr1000Asp)
n.3294T>G
2g.71570608A=CA1260104068DYSFc.467A= (p.Tyr156=)
c.3041A= (p.Tyr1014=)
c.3095A= (p.Tyr1032=)
c.3044A= (p.Tyr1015=)
c.3092A= (p.Tyr1031=)
c.3137A= (p.Tyr1046=)
c.3002A= (p.Tyr1001=)
c.3134A= (p.Tyr1045=)
n.207A=
c.2999A= (p.Tyr1000=)
n.3295A=
2g.71570608A>CCA347216908DYSFc.467A>C (p.Tyr156Ser)
c.3041A>C (p.Tyr1014Ser)
c.3095A>C (p.Tyr1032Ser)
c.3044A>C (p.Tyr1015Ser)
c.3092A>C (p.Tyr1031Ser)
c.3137A>C (p.Tyr1046Ser)
c.3002A>C (p.Tyr1001Ser)
c.3134A>C (p.Tyr1045Ser)
n.207A>C
c.2999A>C (p.Tyr1000Ser)
n.3295A>C
2g.71570608A>GCA275155DYSFc.467A>G (p.Tyr156Cys)
c.3041A>G (p.Tyr1014Cys)
c.3095A>G (p.Tyr1032Cys)
c.3044A>G (p.Tyr1015Cys)
c.3092A>G (p.Tyr1031Cys)
c.3137A>G (p.Tyr1046Cys)
c.3002A>G (p.Tyr1001Cys)
c.3134A>G (p.Tyr1045Cys)
n.207A>G
c.2999A>G (p.Tyr1000Cys)
n.3295A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570608A>TCA347216909DYSFc.467A>T (p.Tyr156Phe)
c.3041A>T (p.Tyr1014Phe)
c.3095A>T (p.Tyr1032Phe)
c.3044A>T (p.Tyr1015Phe)
c.3092A>T (p.Tyr1031Phe)
c.3137A>T (p.Tyr1046Phe)
c.3002A>T (p.Tyr1001Phe)
c.3134A>T (p.Tyr1045Phe)
n.207A>T
c.2999A>T (p.Tyr1000Phe)
n.3295A>T
2g.71570609T>ACA347216910DYSFc.468T>A (p.Tyr156Ter)
c.3042T>A (p.Tyr1014Ter)
c.3096T>A (p.Tyr1032Ter)
c.3045T>A (p.Tyr1015Ter)
c.3093T>A (p.Tyr1031Ter)
c.3138T>A (p.Tyr1046Ter)
c.3003T>A (p.Tyr1001Ter)
c.3135T>A (p.Tyr1045Ter)
n.208T>A
c.3000T>A (p.Tyr1000Ter)
n.3296T>A
2g.71570609T>CCA426702045DYSFc.468T>C (p.Tyr156=)
c.3042T>C (p.Tyr1014=)
c.3096T>C (p.Tyr1032=)
c.3045T>C (p.Tyr1015=)
c.3093T>C (p.Tyr1031=)
c.3138T>C (p.Tyr1046=)
c.3003T>C (p.Tyr1001=)
c.3135T>C (p.Tyr1045=)
n.208T>C
c.3000T>C (p.Tyr1000=)
n.3296T>C
ClinVar dbSNP gnomAD v4
2g.71570609T>GCA347216911DYSFc.468T>G (p.Tyr156Ter)
c.3042T>G (p.Tyr1014Ter)
c.3096T>G (p.Tyr1032Ter)
c.3045T>G (p.Tyr1015Ter)
c.3093T>G (p.Tyr1031Ter)
c.3138T>G (p.Tyr1046Ter)
c.3003T>G (p.Tyr1001Ter)
c.3135T>G (p.Tyr1045Ter)
n.208T>G
c.3000T>G (p.Tyr1000Ter)
n.3296T>G
2g.71570609T=CA1260104069DYSFc.468T= (p.Tyr156=)
c.3042T= (p.Tyr1014=)
c.3096T= (p.Tyr1032=)
c.3045T= (p.Tyr1015=)
c.3093T= (p.Tyr1031=)
c.3138T= (p.Tyr1046=)
c.3003T= (p.Tyr1001=)
c.3135T= (p.Tyr1045=)
n.208T=
c.3000T= (p.Tyr1000=)
n.3296T=
2g.71570609dupCA913090723DYSFc.468dup (p.Ser157Ter)
c.3042dup (p.Ser1015Ter)
c.3096dup (p.Ser1033Ter)
c.3045dup (p.Ser1016Ter)
c.3093dup (p.Ser1032Ter)
c.3138dup (p.Ser1047Ter)
c.3003dup (p.Ser1002Ter)
c.3135dup (p.Ser1046Ter)
n.208dup
c.3000dup (p.Ser1001Ter)
n.3296dup
2g.71570610A=CA1260104070DYSFc.469A= (p.Ser157=)
c.3043A= (p.Ser1015=)
c.3097A= (p.Ser1033=)
c.3046A= (p.Ser1016=)
c.3094A= (p.Ser1032=)
c.3139A= (p.Ser1047=)
c.3004A= (p.Ser1002=)
c.3136A= (p.Ser1046=)
n.209A=
c.3001A= (p.Ser1001=)
n.3297A=
2g.71570610A>CCA347216912DYSFc.469A>C (p.Ser157Arg)
c.3043A>C (p.Ser1015Arg)
c.3097A>C (p.Ser1033Arg)
c.3046A>C (p.Ser1016Arg)
c.3094A>C (p.Ser1032Arg)
c.3139A>C (p.Ser1047Arg)
c.3004A>C (p.Ser1002Arg)
c.3136A>C (p.Ser1046Arg)
n.209A>C
c.3001A>C (p.Ser1001Arg)
n.3297A>C
2g.71570610A>GCA1706421DYSFc.469A>G (p.Ser157Gly)
c.3043A>G (p.Ser1015Gly)
c.3097A>G (p.Ser1033Gly)
c.3046A>G (p.Ser1016Gly)
c.3094A>G (p.Ser1032Gly)
c.3139A>G (p.Ser1047Gly)
c.3004A>G (p.Ser1002Gly)
c.3136A>G (p.Ser1046Gly)
n.209A>G
c.3001A>G (p.Ser1001Gly)
n.3297A>G
dbSNP ExAC gnomAD v2
2g.71570610A>TCA347216913DYSFc.469A>T (p.Ser157Cys)
c.3043A>T (p.Ser1015Cys)
c.3097A>T (p.Ser1033Cys)
c.3046A>T (p.Ser1016Cys)
c.3094A>T (p.Ser1032Cys)
c.3139A>T (p.Ser1047Cys)
c.3004A>T (p.Ser1002Cys)
c.3136A>T (p.Ser1046Cys)
n.209A>T
c.3001A>T (p.Ser1001Cys)
n.3297A>T
2g.71570611_71570613dupCA2659549629DYSFc.470_472dup (p.Ser157_Ile158insSer)
c.3044_3046dup (p.Ser1015_Ile1016insSer)
c.3098_3100dup (p.Ser1033_Ile1034insSer)
c.3047_3049dup (p.Ser1016_Ile1017insSer)
c.3095_3097dup (p.Ser1032_Ile1033insSer)
c.3140_3142dup (p.Ser1047_Ile1048insSer)
c.3005_3007dup (p.Ser1002_Ile1003insSer)
c.3137_3139dup (p.Ser1046_Ile1047insSer)
n.210_212dup
c.3002_3004dup (p.Ser1001_Ile1002insSer)
n.3298_3300dup
gnomAD v4
2g.71570611_71570616dupCA658822442DYSFc.470_475dup (p.Ile158_Thr159insSerIle)
c.3044_3049dup (p.Ile1016_Thr1017insSerIle)
c.3098_3103dup (p.Ile1034_Thr1035insSerIle)
c.3047_3052dup (p.Ile1017_Thr1018insSerIle)
c.3095_3100dup (p.Ile1033_Thr1034insSerIle)
c.3140_3145dup (p.Ile1048_Thr1049insSerIle)
c.3005_3010dup (p.Ile1003_Thr1004insSerIle)
c.3137_3142dup (p.Ile1047_Thr1048insSerIle)
n.210_215dup
c.3002_3007dup (p.Ile1002_Thr1003insSerIle)
n.3298_3303dup
ClinVar dbSNP
2g.71570611G>ACA347216914DYSFc.470G>A (p.Ser157Asn)
c.3044G>A (p.Ser1015Asn)
c.3098G>A (p.Ser1033Asn)
c.3047G>A (p.Ser1016Asn)
c.3095G>A (p.Ser1032Asn)
c.3140G>A (p.Ser1047Asn)
c.3005G>A (p.Ser1002Asn)
c.3137G>A (p.Ser1046Asn)
n.210G>A
c.3002G>A (p.Ser1001Asn)
n.3298G>A
gnomAD v4
2g.71570611G>CCA347216915DYSFc.470G>C (p.Ser157Thr)
c.3044G>C (p.Ser1015Thr)
c.3098G>C (p.Ser1033Thr)
c.3047G>C (p.Ser1016Thr)
c.3095G>C (p.Ser1032Thr)
c.3140G>C (p.Ser1047Thr)
c.3005G>C (p.Ser1002Thr)
c.3137G>C (p.Ser1046Thr)
n.210G>C
c.3002G>C (p.Ser1001Thr)
n.3298G>C
2g.71570611G>TCA347216916DYSFc.470G>T (p.Ser157Ile)
c.3044G>T (p.Ser1015Ile)
c.3098G>T (p.Ser1033Ile)
c.3047G>T (p.Ser1016Ile)
c.3095G>T (p.Ser1032Ile)
c.3140G>T (p.Ser1047Ile)
c.3005G>T (p.Ser1002Ile)
c.3137G>T (p.Ser1046Ile)
n.210G>T
c.3002G>T (p.Ser1001Ile)
n.3298G>T
2g.71570612C>ACA347216917DYSFc.471C>A (p.Ser157Arg)
c.3045C>A (p.Ser1015Arg)
c.3099C>A (p.Ser1033Arg)
c.3048C>A (p.Ser1016Arg)
c.3096C>A (p.Ser1032Arg)
c.3141C>A (p.Ser1047Arg)
c.3006C>A (p.Ser1002Arg)
c.3138C>A (p.Ser1046Arg)
n.211C>A
c.3003C>A (p.Ser1001Arg)
n.3299C>A
2g.71570612C=CA1260104071DYSFc.471C= (p.Ser157=)
c.3045C= (p.Ser1015=)
c.3099C= (p.Ser1033=)
c.3048C= (p.Ser1016=)
c.3096C= (p.Ser1032=)
c.3141C= (p.Ser1047=)
c.3006C= (p.Ser1002=)
c.3138C= (p.Ser1046=)
n.211C=
c.3003C= (p.Ser1001=)
n.3299C=
2g.71570612C>GCA347216918DYSFc.471C>G (p.Ser157Arg)
c.3045C>G (p.Ser1015Arg)
c.3099C>G (p.Ser1033Arg)
c.3048C>G (p.Ser1016Arg)
c.3096C>G (p.Ser1032Arg)
c.3141C>G (p.Ser1047Arg)
c.3006C>G (p.Ser1002Arg)
c.3138C>G (p.Ser1046Arg)
n.211C>G
c.3003C>G (p.Ser1001Arg)
n.3299C>G
dbSNP
2g.71570612C>TCA426702046DYSFc.471C>T (p.Ser157=)
c.3045C>T (p.Ser1015=)
c.3099C>T (p.Ser1033=)
c.3048C>T (p.Ser1016=)
c.3096C>T (p.Ser1032=)
c.3141C>T (p.Ser1047=)
c.3006C>T (p.Ser1002=)
c.3138C>T (p.Ser1046=)
n.211C>T
c.3003C>T (p.Ser1001=)
n.3299C>T
2g.71570613A>CCA347216919DYSFc.472A>C (p.Ile158Leu)
c.3046A>C (p.Ile1016Leu)
c.3100A>C (p.Ile1034Leu)
c.3049A>C (p.Ile1017Leu)
c.3097A>C (p.Ile1033Leu)
c.3142A>C (p.Ile1048Leu)
c.3007A>C (p.Ile1003Leu)
c.3139A>C (p.Ile1047Leu)
n.212A>C
c.3004A>C (p.Ile1002Leu)
n.3300A>C
2g.71570613A>GCA347216921DYSFc.472A>G (p.Ile158Val)
c.3046A>G (p.Ile1016Val)
c.3100A>G (p.Ile1034Val)
c.3049A>G (p.Ile1017Val)
c.3097A>G (p.Ile1033Val)
c.3142A>G (p.Ile1048Val)
c.3007A>G (p.Ile1003Val)
c.3139A>G (p.Ile1047Val)
n.212A>G
c.3004A>G (p.Ile1002Val)
n.3300A>G
2g.71570613A>TCA347216920DYSFc.472A>T (p.Ile158Phe)
c.3046A>T (p.Ile1016Phe)
c.3100A>T (p.Ile1034Phe)
c.3049A>T (p.Ile1017Phe)
c.3097A>T (p.Ile1033Phe)
c.3142A>T (p.Ile1048Phe)
c.3007A>T (p.Ile1003Phe)
c.3139A>T (p.Ile1047Phe)
n.212A>T
c.3004A>T (p.Ile1002Phe)
n.3300A>T
2g.71570614T>ACA347216922DYSFc.473T>A (p.Ile158Asn)
c.3047T>A (p.Ile1016Asn)
c.3101T>A (p.Ile1034Asn)
c.3050T>A (p.Ile1017Asn)
c.3098T>A (p.Ile1033Asn)
c.3143T>A (p.Ile1048Asn)
c.3008T>A (p.Ile1003Asn)
c.3140T>A (p.Ile1047Asn)
n.213T>A
c.3005T>A (p.Ile1002Asn)
n.3301T>A
2g.71570614T>CCA1706422DYSFc.473T>C (p.Ile158Thr)
c.3047T>C (p.Ile1016Thr)
c.3101T>C (p.Ile1034Thr)
c.3050T>C (p.Ile1017Thr)
c.3098T>C (p.Ile1033Thr)
c.3143T>C (p.Ile1048Thr)
c.3008T>C (p.Ile1003Thr)
c.3140T>C (p.Ile1047Thr)
n.213T>C
c.3005T>C (p.Ile1002Thr)
n.3301T>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.71570614T>GCA347216923DYSFc.473T>G (p.Ile158Ser)
c.3047T>G (p.Ile1016Ser)
c.3101T>G (p.Ile1034Ser)
c.3050T>G (p.Ile1017Ser)
c.3098T>G (p.Ile1033Ser)
c.3143T>G (p.Ile1048Ser)
c.3008T>G (p.Ile1003Ser)
c.3140T>G (p.Ile1047Ser)
n.213T>G
c.3005T>G (p.Ile1002Ser)
n.3301T>G
2g.71570614T=CA1260104072DYSFc.473T= (p.Ile158=)
c.3047T= (p.Ile1016=)
c.3101T= (p.Ile1034=)
c.3050T= (p.Ile1017=)
c.3098T= (p.Ile1033=)
c.3143T= (p.Ile1048=)
c.3008T= (p.Ile1003=)
c.3140T= (p.Ile1047=)
n.213T=
c.3005T= (p.Ile1002=)
n.3301T=
2g.71570615C>ACA426702047DYSFc.474C>A (p.Ile158=)
c.3048C>A (p.Ile1016=)
c.3102C>A (p.Ile1034=)
c.3051C>A (p.Ile1017=)
c.3099C>A (p.Ile1033=)
c.3144C>A (p.Ile1048=)
c.3009C>A (p.Ile1003=)
c.3141C>A (p.Ile1047=)
n.214C>A
c.3006C>A (p.Ile1002=)
n.3302C>A
2g.71570615C=CA1260104073DYSFc.474C= (p.Ile158=)
c.3048C= (p.Ile1016=)
c.3102C= (p.Ile1034=)
c.3051C= (p.Ile1017=)
c.3099C= (p.Ile1033=)
c.3144C= (p.Ile1048=)
c.3009C= (p.Ile1003=)
c.3141C= (p.Ile1047=)
n.214C=
c.3006C= (p.Ile1002=)
n.3302C=
2g.71570615C>GCA1706423DYSFc.474C>G (p.Ile158Met)
c.3048C>G (p.Ile1016Met)
c.3102C>G (p.Ile1034Met)
c.3051C>G (p.Ile1017Met)
c.3099C>G (p.Ile1033Met)
c.3144C>G (p.Ile1048Met)
c.3009C>G (p.Ile1003Met)
c.3141C>G (p.Ile1047Met)
n.214C>G
c.3006C>G (p.Ile1002Met)
n.3302C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570615C>TCA426702048DYSFc.474C>T (p.Ile158=)
c.3048C>T (p.Ile1016=)
c.3102C>T (p.Ile1034=)
c.3051C>T (p.Ile1017=)
c.3099C>T (p.Ile1033=)
c.3144C>T (p.Ile1048=)
c.3009C>T (p.Ile1003=)
c.3141C>T (p.Ile1047=)
n.214C>T
c.3006C>T (p.Ile1002=)
n.3302C>T
dbSNP gnomAD v2 gnomAD v4
2g.71570616A=CA1260104074DYSFc.475A= (p.Thr159=)
c.3049A= (p.Thr1017=)
c.3103A= (p.Thr1035=)
c.3052A= (p.Thr1018=)
c.3100A= (p.Thr1034=)
c.3145A= (p.Thr1049=)
c.3010A= (p.Thr1004=)
c.3142A= (p.Thr1048=)
n.215A=
c.3007A= (p.Thr1003=)
n.3303A=
2g.71570616A>CCA347216924DYSFc.475A>C (p.Thr159Pro)
c.3049A>C (p.Thr1017Pro)
c.3103A>C (p.Thr1035Pro)
c.3052A>C (p.Thr1018Pro)
c.3100A>C (p.Thr1034Pro)
c.3145A>C (p.Thr1049Pro)
c.3010A>C (p.Thr1004Pro)
c.3142A>C (p.Thr1048Pro)
n.215A>C
c.3007A>C (p.Thr1003Pro)
n.3303A>C
dbSNP
2g.71570616A>GCA347216925DYSFc.475A>G (p.Thr159Ala)
c.3049A>G (p.Thr1017Ala)
c.3103A>G (p.Thr1035Ala)
c.3052A>G (p.Thr1018Ala)
c.3100A>G (p.Thr1034Ala)
c.3145A>G (p.Thr1049Ala)
c.3010A>G (p.Thr1004Ala)
c.3142A>G (p.Thr1048Ala)
n.215A>G
c.3007A>G (p.Thr1003Ala)
n.3303A>G
dbSNP gnomAD v2 gnomAD v4
2g.71570616A>TCA347216926DYSFc.475A>T (p.Thr159Ser)
c.3049A>T (p.Thr1017Ser)
c.3103A>T (p.Thr1035Ser)
c.3052A>T (p.Thr1018Ser)
c.3100A>T (p.Thr1034Ser)
c.3145A>T (p.Thr1049Ser)
c.3010A>T (p.Thr1004Ser)
c.3142A>T (p.Thr1048Ser)
n.215A>T
c.3007A>T (p.Thr1003Ser)
n.3303A>T
2g.71570617C>ACA347216927DYSFc.476C>A (p.Thr159Asn)
c.3050C>A (p.Thr1017Asn)
c.3104C>A (p.Thr1035Asn)
c.3053C>A (p.Thr1018Asn)
c.3101C>A (p.Thr1034Asn)
c.3146C>A (p.Thr1049Asn)
c.3011C>A (p.Thr1004Asn)
c.3143C>A (p.Thr1048Asn)
n.216C>A
c.3008C>A (p.Thr1003Asn)
n.3304C>A
2g.71570617C=CA1260104075DYSFc.476C= (p.Thr159=)
c.3050C= (p.Thr1017=)
c.3104C= (p.Thr1035=)
c.3053C= (p.Thr1018=)
c.3101C= (p.Thr1034=)
c.3146C= (p.Thr1049=)
c.3011C= (p.Thr1004=)
c.3143C= (p.Thr1048=)
n.216C=
c.3008C= (p.Thr1003=)
n.3304C=
2g.71570617C>GCA347216928DYSFc.476C>G (p.Thr159Ser)
c.3050C>G (p.Thr1017Ser)
c.3104C>G (p.Thr1035Ser)
c.3053C>G (p.Thr1018Ser)
c.3101C>G (p.Thr1034Ser)
c.3146C>G (p.Thr1049Ser)
c.3011C>G (p.Thr1004Ser)
c.3143C>G (p.Thr1048Ser)
n.216C>G
c.3008C>G (p.Thr1003Ser)
n.3304C>G
dbSNP
2g.71570617C>TCA347216929DYSFc.476C>T (p.Thr159Ile)
c.3050C>T (p.Thr1017Ile)
c.3104C>T (p.Thr1035Ile)
c.3053C>T (p.Thr1018Ile)
c.3101C>T (p.Thr1034Ile)
c.3146C>T (p.Thr1049Ile)
c.3011C>T (p.Thr1004Ile)
c.3143C>T (p.Thr1048Ile)
n.216C>T
c.3008C>T (p.Thr1003Ile)
n.3304C>T
2g.71570618dupCA1706424DYSFc.477dup (p.Ile160HisfsTer14)
c.3051dup (p.Ile1018HisfsTer14)
c.3105dup (p.Ile1036HisfsTer14)
c.3054dup (p.Ile1019HisfsTer14)
c.3102dup (p.Ile1035HisfsTer14)
c.3147dup (p.Ile1050HisfsTer14)
c.3012dup (p.Ile1005HisfsTer14)
c.3144dup (p.Ile1049HisfsTer14)
n.217dup
c.3009dup (p.Ile1004HisfsTer14)
n.3305dup
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570618C>ACA426702050DYSFc.477C>A (p.Thr159=)
c.3051C>A (p.Thr1017=)
c.3105C>A (p.Thr1035=)
c.3054C>A (p.Thr1018=)
c.3102C>A (p.Thr1034=)
c.3147C>A (p.Thr1049=)
c.3012C>A (p.Thr1004=)
c.3144C>A (p.Thr1048=)
n.217C>A
c.3009C>A (p.Thr1003=)
n.3305C>A
2g.71570618C=CA1260104076DYSFc.477C= (p.Thr159=)
c.3051C= (p.Thr1017=)
c.3105C= (p.Thr1035=)
c.3054C= (p.Thr1018=)
c.3102C= (p.Thr1034=)
c.3147C= (p.Thr1049=)
c.3012C= (p.Thr1004=)
c.3144C= (p.Thr1048=)
n.217C=
c.3009C= (p.Thr1003=)
n.3305C=
2g.71570618C>GCA426702049DYSFc.477C>G (p.Thr159=)
c.3051C>G (p.Thr1017=)
c.3105C>G (p.Thr1035=)
c.3054C>G (p.Thr1018=)
c.3102C>G (p.Thr1034=)
c.3147C>G (p.Thr1049=)
c.3012C>G (p.Thr1004=)
c.3144C>G (p.Thr1048=)
n.217C>G
c.3009C>G (p.Thr1003=)
n.3305C>G
2g.71570618C>TCA1706425DYSFc.477C>T (p.Thr159=)
c.3051C>T (p.Thr1017=)
c.3105C>T (p.Thr1035=)
c.3054C>T (p.Thr1018=)
c.3102C>T (p.Thr1034=)
c.3147C>T (p.Thr1049=)
c.3012C>T (p.Thr1004=)
c.3144C>T (p.Thr1048=)
n.217C>T
c.3009C>T (p.Thr1003=)
n.3305C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570619A=CA1260104077DYSFc.478A= (p.Ile160=)
c.3052A= (p.Ile1018=)
c.3106A= (p.Ile1036=)
c.3055A= (p.Ile1019=)
c.3103A= (p.Ile1035=)
c.3148A= (p.Ile1050=)
c.3013A= (p.Ile1005=)
c.3145A= (p.Ile1049=)
n.218A=
c.3010A= (p.Ile1004=)
n.3306A=
2g.71570619A>CCA347216930DYSFc.478A>C (p.Ile160Leu)
c.3052A>C (p.Ile1018Leu)
c.3106A>C (p.Ile1036Leu)
c.3055A>C (p.Ile1019Leu)
c.3103A>C (p.Ile1035Leu)
c.3148A>C (p.Ile1050Leu)
c.3013A>C (p.Ile1005Leu)
c.3145A>C (p.Ile1049Leu)
n.218A>C
c.3010A>C (p.Ile1004Leu)
n.3306A>C
2g.71570619A>GCA347216932DYSFc.478A>G (p.Ile160Val)
c.3052A>G (p.Ile1018Val)
c.3106A>G (p.Ile1036Val)
c.3055A>G (p.Ile1019Val)
c.3103A>G (p.Ile1035Val)
c.3148A>G (p.Ile1050Val)
c.3013A>G (p.Ile1005Val)
c.3145A>G (p.Ile1049Val)
n.218A>G
c.3010A>G (p.Ile1004Val)
n.3306A>G
2g.71570619A>TCA347216931DYSFc.478A>T (p.Ile160Phe)
c.3052A>T (p.Ile1018Phe)
c.3106A>T (p.Ile1036Phe)
c.3055A>T (p.Ile1019Phe)
c.3103A>T (p.Ile1035Phe)
c.3148A>T (p.Ile1050Phe)
c.3013A>T (p.Ile1005Phe)
c.3145A>T (p.Ile1049Phe)
n.218A>T
c.3010A>T (p.Ile1004Phe)
n.3306A>T
gnomAD v4
2g.71570620delCA2580067855DYSFc.479del (p.Ile160ThrfsTer?)
c.3053del (p.Ile1018ThrfsTer?)
c.3107del (p.Ile1036ThrfsTer?)
c.3056del (p.Ile1019ThrfsTer?)
c.3104del (p.Ile1035ThrfsTer?)
c.3149del (p.Ile1050ThrfsTer?)
c.3014del (p.Ile1005ThrfsTer?)
c.3146del (p.Ile1049ThrfsTer?)
n.219del
c.3011del (p.Ile1004ThrfsTer?)
n.3307del
ClinVar
2g.71570620T>ACA347216933DYSFc.479T>A (p.Ile160Asn)
c.3053T>A (p.Ile1018Asn)
c.3107T>A (p.Ile1036Asn)
c.3056T>A (p.Ile1019Asn)
c.3104T>A (p.Ile1035Asn)
c.3149T>A (p.Ile1050Asn)
c.3014T>A (p.Ile1005Asn)
c.3146T>A (p.Ile1049Asn)
n.219T>A
c.3011T>A (p.Ile1004Asn)
n.3307T>A
dbSNP
2g.71570620T>CCA347216934DYSFc.479T>C (p.Ile160Thr)
c.3053T>C (p.Ile1018Thr)
c.3107T>C (p.Ile1036Thr)
c.3056T>C (p.Ile1019Thr)
c.3104T>C (p.Ile1035Thr)
c.3149T>C (p.Ile1050Thr)
c.3014T>C (p.Ile1005Thr)
c.3146T>C (p.Ile1049Thr)
n.219T>C
c.3011T>C (p.Ile1004Thr)
n.3307T>C
dbSNP
2g.71570620T>GCA347216935DYSFc.479T>G (p.Ile160Ser)
c.3053T>G (p.Ile1018Ser)
c.3107T>G (p.Ile1036Ser)
c.3056T>G (p.Ile1019Ser)
c.3104T>G (p.Ile1035Ser)
c.3149T>G (p.Ile1050Ser)
c.3014T>G (p.Ile1005Ser)
c.3146T>G (p.Ile1049Ser)
n.219T>G
c.3011T>G (p.Ile1004Ser)
n.3307T>G
2g.71570620T=CA1260104079DYSFc.479T= (p.Ile160=)
c.3053T= (p.Ile1018=)
c.3107T= (p.Ile1036=)
c.3056T= (p.Ile1019=)
c.3104T= (p.Ile1035=)
c.3149T= (p.Ile1050=)
c.3014T= (p.Ile1005=)
c.3146T= (p.Ile1049=)
n.219T=
c.3011T= (p.Ile1004=)
n.3307T=
2g.71570620dupCA1706426DYSFc.479dup (p.Glu163GlyfsTer11)
c.3053dup (p.Glu1021GlyfsTer11)
c.3107dup (p.Glu1039GlyfsTer11)
c.3056dup (p.Glu1022GlyfsTer11)
c.3104dup (p.Glu1038GlyfsTer11)
c.3149dup (p.Glu1053GlyfsTer11)
c.3014dup (p.Glu1008GlyfsTer11)
c.3146dup (p.Glu1052GlyfsTer11)
n.219dup
c.3011dup (p.Glu1007GlyfsTer11)
n.3307dup
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570620_71570621delinsTCCA1260104078DYSFc.479_480delinsTC (p.Ile160=)
c.3053_3054delinsTC (p.Ile1018=)
c.3107_3108delinsTC (p.Ile1036=)
c.3056_3057delinsTC (p.Ile1019=)
c.3104_3105delinsTC (p.Ile1035=)
c.3149_3150delinsTC (p.Ile1050=)
c.3014_3015delinsTC (p.Ile1005=)
c.3146_3147delinsTC (p.Ile1049=)
n.219_220delinsTC
c.3011_3012delinsTC (p.Ile1004=)
n.3307_3308delinsTC
2g.71570621C>ACA426702051DYSFc.480C>A (p.Ile160=)
c.3054C>A (p.Ile1018=)
c.3108C>A (p.Ile1036=)
c.3057C>A (p.Ile1019=)
c.3105C>A (p.Ile1035=)
c.3150C>A (p.Ile1050=)
c.3015C>A (p.Ile1005=)
c.3147C>A (p.Ile1049=)
n.220C>A
c.3012C>A (p.Ile1004=)
n.3308C>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71570621C=CA1260104080DYSFc.480C= (p.Ile160=)
c.3054C= (p.Ile1018=)
c.3108C= (p.Ile1036=)
c.3057C= (p.Ile1019=)
c.3105C= (p.Ile1035=)
c.3150C= (p.Ile1050=)
c.3015C= (p.Ile1005=)
c.3147C= (p.Ile1049=)
n.220C=
c.3012C= (p.Ile1004=)
n.3308C=
2g.71570621C>GCA1706428DYSFc.480C>G (p.Ile160Met)
c.3054C>G (p.Ile1018Met)
c.3108C>G (p.Ile1036Met)
c.3057C>G (p.Ile1019Met)
c.3105C>G (p.Ile1035Met)
c.3150C>G (p.Ile1050Met)
c.3015C>G (p.Ile1005Met)
c.3147C>G (p.Ile1049Met)
n.220C>G
c.3012C>G (p.Ile1004Met)
n.3308C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570621C>TCA49746655DYSFc.480C>T (p.Ile160=)
c.3054C>T (p.Ile1018=)
c.3108C>T (p.Ile1036=)
c.3057C>T (p.Ile1019=)
c.3105C>T (p.Ile1035=)
c.3150C>T (p.Ile1050=)
c.3015C>T (p.Ile1005=)
c.3147C>T (p.Ile1049=)
n.220C>T
c.3012C>T (p.Ile1004=)
n.3308C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71570626dupCA1706427DYSFc.485dup (p.Glu163GlyfsTer11)
c.3059dup (p.Glu1021GlyfsTer11)
c.3113dup (p.Glu1039GlyfsTer11)
c.3062dup (p.Glu1022GlyfsTer11)
c.3110dup (p.Glu1038GlyfsTer11)
c.3155dup (p.Glu1053GlyfsTer11)
c.3020dup (p.Glu1008GlyfsTer11)
c.3152dup (p.Glu1052GlyfsTer11)
n.225dup
c.3017dup (p.Glu1007GlyfsTer11)
n.3313dup
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.71570626delCA426702052DYSFc.485del (p.Pro162ArgfsTer?)
c.3059del (p.Pro1020ArgfsTer?)
c.3113del (p.Pro1038ArgfsTer?)
c.3062del (p.Pro1021ArgfsTer?)
c.3110del (p.Pro1037ArgfsTer?)
c.3155del (p.Pro1052ArgfsTer?)
c.3020del (p.Pro1007ArgfsTer?)
c.3152del (p.Pro1051ArgfsTer?)
n.225del
c.3017del (p.Pro1006ArgfsTer?)
n.3313del
ClinVar dbSNP COSMIC COSMIC
2g.71570622C>ACA49746662DYSFc.481C>A (p.Pro161Thr)
c.3055C>A (p.Pro1019Thr)
c.3109C>A (p.Pro1037Thr)
c.3058C>A (p.Pro1020Thr)
c.3106C>A (p.Pro1036Thr)
c.3151C>A (p.Pro1051Thr)
c.3016C>A (p.Pro1006Thr)
c.3148C>A (p.Pro1050Thr)
n.221C>A
c.3013C>A (p.Pro1005Thr)
n.3309C>A
dbSNP gnomAD v3 gnomAD v4
2g.71570622C=CA1260104081DYSFc.481C= (p.Pro161=)
c.3055C= (p.Pro1019=)
c.3109C= (p.Pro1037=)
c.3058C= (p.Pro1020=)
c.3106C= (p.Pro1036=)
c.3151C= (p.Pro1051=)
c.3016C= (p.Pro1006=)
c.3148C= (p.Pro1050=)
n.221C=
c.3013C= (p.Pro1005=)
n.3309C=
2g.71570622C>GCA347216936DYSFc.481C>G (p.Pro161Ala)
c.3055C>G (p.Pro1019Ala)
c.3109C>G (p.Pro1037Ala)
c.3058C>G (p.Pro1020Ala)
c.3106C>G (p.Pro1036Ala)
c.3151C>G (p.Pro1051Ala)
c.3016C>G (p.Pro1006Ala)
c.3148C>G (p.Pro1050Ala)
n.221C>G
c.3013C>G (p.Pro1005Ala)
n.3309C>G
2g.71570622C>TCA347216937DYSFc.481C>T (p.Pro161Ser)
c.3055C>T (p.Pro1019Ser)
c.3109C>T (p.Pro1037Ser)
c.3058C>T (p.Pro1020Ser)
c.3106C>T (p.Pro1036Ser)
c.3151C>T (p.Pro1051Ser)
c.3016C>T (p.Pro1006Ser)
c.3148C>T (p.Pro1050Ser)
n.221C>T
c.3013C>T (p.Pro1005Ser)
n.3309C>T
dbSNP gnomAD v4
2g.71570623C>ACA347216938DYSFc.482C>A (p.Pro161His)
c.3056C>A (p.Pro1019His)
c.3110C>A (p.Pro1037His)
c.3059C>A (p.Pro1020His)
c.3107C>A (p.Pro1036His)
c.3152C>A (p.Pro1051His)
c.3017C>A (p.Pro1006His)
c.3149C>A (p.Pro1050His)
n.222C>A
c.3014C>A (p.Pro1005His)
n.3310C>A
gnomAD v4
2g.71570623C=CA1260104082DYSFc.482C= (p.Pro161=)
c.3056C= (p.Pro1019=)
c.3110C= (p.Pro1037=)
c.3059C= (p.Pro1020=)
c.3107C= (p.Pro1036=)
c.3152C= (p.Pro1051=)
c.3017C= (p.Pro1006=)
c.3149C= (p.Pro1050=)
n.222C=
c.3014C= (p.Pro1005=)
n.3310C=
2g.71570623C>GCA347216939DYSFc.482C>G (p.Pro161Arg)
c.3056C>G (p.Pro1019Arg)
c.3110C>G (p.Pro1037Arg)
c.3059C>G (p.Pro1020Arg)
c.3107C>G (p.Pro1036Arg)
c.3152C>G (p.Pro1051Arg)
c.3017C>G (p.Pro1006Arg)
c.3149C>G (p.Pro1050Arg)
n.222C>G
c.3014C>G (p.Pro1005Arg)
n.3310C>G
2g.71570623C>TCA1706429DYSFc.482C>T (p.Pro161Leu)
c.3056C>T (p.Pro1019Leu)
c.3110C>T (p.Pro1037Leu)
c.3059C>T (p.Pro1020Leu)
c.3107C>T (p.Pro1036Leu)
c.3152C>T (p.Pro1051Leu)
c.3017C>T (p.Pro1006Leu)
c.3149C>T (p.Pro1050Leu)
n.222C>T
c.3014C>T (p.Pro1005Leu)
n.3310C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.71570624C>ACA426702053DYSFc.483C>A (p.Pro161=)
c.3057C>A (p.Pro1019=)
c.3111C>A (p.Pro1037=)
c.3060C>A (p.Pro1020=)
c.3108C>A (p.Pro1036=)
c.3153C>A (p.Pro1051=)
c.3018C>A (p.Pro1006=)
c.3150C>A (p.Pro1050=)
n.223C>A
c.3015C>A (p.Pro1005=)
n.3311C>A
2g.71570624C=CA1260104083DYSFc.483C= (p.Pro161=)
c.3057C= (p.Pro1019=)
c.3111C= (p.Pro1037=)
c.3060C= (p.Pro1020=)
c.3108C= (p.Pro1036=)
c.3153C= (p.Pro1051=)
c.3018C= (p.Pro1006=)
c.3150C= (p.Pro1050=)
n.223C=
c.3015C= (p.Pro1005=)
n.3311C=
2g.71570624C>GCA426702054DYSFc.483C>G (p.Pro161=)
c.3057C>G (p.Pro1019=)
c.3111C>G (p.Pro1037=)
c.3060C>G (p.Pro1020=)
c.3108C>G (p.Pro1036=)
c.3153C>G (p.Pro1051=)
c.3018C>G (p.Pro1006=)
c.3150C>G (p.Pro1050=)
n.223C>G
c.3015C>G (p.Pro1005=)
n.3311C>G
gnomAD v4
2g.71570624C>TCA1706430DYSFc.483C>T (p.Pro161=)
c.3057C>T (p.Pro1019=)
c.3111C>T (p.Pro1037=)
c.3060C>T (p.Pro1020=)
c.3108C>T (p.Pro1036=)
c.3153C>T (p.Pro1051=)
c.3018C>T (p.Pro1006=)
c.3150C>T (p.Pro1050=)
n.223C>T
c.3015C>T (p.Pro1005=)
n.3311C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570625C>ACA347216940DYSFc.484C>A (p.Pro162Thr)
c.3058C>A (p.Pro1020Thr)
c.3112C>A (p.Pro1038Thr)
c.3061C>A (p.Pro1021Thr)
c.3109C>A (p.Pro1037Thr)
c.3154C>A (p.Pro1052Thr)
c.3019C>A (p.Pro1007Thr)
c.3151C>A (p.Pro1051Thr)
n.224C>A
c.3016C>A (p.Pro1006Thr)
n.3312C>A
2g.71570625C=CA1260104084DYSFc.484C= (p.Pro162=)
c.3058C= (p.Pro1020=)
c.3112C= (p.Pro1038=)
c.3061C= (p.Pro1021=)
c.3109C= (p.Pro1037=)
c.3154C= (p.Pro1052=)
c.3019C= (p.Pro1007=)
c.3151C= (p.Pro1051=)
n.224C=
c.3016C= (p.Pro1006=)
n.3312C=
2g.71570625C>GCA347216941DYSFc.484C>G (p.Pro162Ala)
c.3058C>G (p.Pro1020Ala)
c.3112C>G (p.Pro1038Ala)
c.3061C>G (p.Pro1021Ala)
c.3109C>G (p.Pro1037Ala)
c.3154C>G (p.Pro1052Ala)
c.3019C>G (p.Pro1007Ala)
c.3151C>G (p.Pro1051Ala)
n.224C>G
c.3016C>G (p.Pro1006Ala)
n.3312C>G
dbSNP gnomAD v4
2g.71570625C>TCA1706431DYSFc.484C>T (p.Pro162Ser)
c.3058C>T (p.Pro1020Ser)
c.3112C>T (p.Pro1038Ser)
c.3061C>T (p.Pro1021Ser)
c.3109C>T (p.Pro1037Ser)
c.3154C>T (p.Pro1052Ser)
c.3019C>T (p.Pro1007Ser)
c.3151C>T (p.Pro1051Ser)
n.224C>T
c.3016C>T (p.Pro1006Ser)
n.3312C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570626C>ACA347216942DYSFc.485C>A (p.Pro162Gln)
c.3059C>A (p.Pro1020Gln)
c.3113C>A (p.Pro1038Gln)
c.3062C>A (p.Pro1021Gln)
c.3110C>A (p.Pro1037Gln)
c.3155C>A (p.Pro1052Gln)
c.3020C>A (p.Pro1007Gln)
c.3152C>A (p.Pro1051Gln)
n.225C>A
c.3017C>A (p.Pro1006Gln)
n.3313C>A
ClinVar dbSNP gnomAD v4
2g.71570626C=CA1260104085DYSFc.485C= (p.Pro162=)
c.3059C= (p.Pro1020=)
c.3113C= (p.Pro1038=)
c.3062C= (p.Pro1021=)
c.3110C= (p.Pro1037=)
c.3155C= (p.Pro1052=)
c.3020C= (p.Pro1007=)
c.3152C= (p.Pro1051=)
n.225C=
c.3017C= (p.Pro1006=)
n.3313C=
2g.71570626C>GCA347216943DYSFc.485C>G (p.Pro162Arg)
c.3059C>G (p.Pro1020Arg)
c.3113C>G (p.Pro1038Arg)
c.3062C>G (p.Pro1021Arg)
c.3110C>G (p.Pro1037Arg)
c.3155C>G (p.Pro1052Arg)
c.3020C>G (p.Pro1007Arg)
c.3152C>G (p.Pro1051Arg)
n.225C>G
c.3017C>G (p.Pro1006Arg)
n.3313C>G
dbSNP gnomAD v4
2g.71570626C>TCA1706432DYSFc.485C>T (p.Pro162Leu)
c.3059C>T (p.Pro1020Leu)
c.3113C>T (p.Pro1038Leu)
c.3062C>T (p.Pro1021Leu)
c.3110C>T (p.Pro1037Leu)
c.3155C>T (p.Pro1052Leu)
c.3020C>T (p.Pro1007Leu)
c.3152C>T (p.Pro1051Leu)
n.225C>T
c.3017C>T (p.Pro1006Leu)
n.3313C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570627G>ACA222150DYSFc.486G>A (p.Pro162=)
c.3060G>A (p.Pro1020=)
c.3114G>A (p.Pro1038=)
c.3063G>A (p.Pro1021=)
c.3111G>A (p.Pro1037=)
c.3156G>A (p.Pro1052=)
c.3021G>A (p.Pro1007=)
c.3153G>A (p.Pro1051=)
n.226G>A
c.3018G>A (p.Pro1006=)
n.3314G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570627G>CCA426702056DYSFc.486G>C (p.Pro162=)
c.3060G>C (p.Pro1020=)
c.3114G>C (p.Pro1038=)
c.3063G>C (p.Pro1021=)
c.3111G>C (p.Pro1037=)
c.3156G>C (p.Pro1052=)
c.3021G>C (p.Pro1007=)
c.3153G>C (p.Pro1051=)
n.226G>C
c.3018G>C (p.Pro1006=)
n.3314G>C
2g.71570627G=CA1260104086DYSFc.486G= (p.Pro162=)
c.3060G= (p.Pro1020=)
c.3114G= (p.Pro1038=)
c.3063G= (p.Pro1021=)
c.3111G= (p.Pro1037=)
c.3156G= (p.Pro1052=)
c.3021G= (p.Pro1007=)
c.3153G= (p.Pro1051=)
n.226G=
c.3018G= (p.Pro1006=)
n.3314G=
2g.71570627G>TCA426702055DYSFc.486G>T (p.Pro162=)
c.3060G>T (p.Pro1020=)
c.3114G>T (p.Pro1038=)
c.3063G>T (p.Pro1021=)
c.3111G>T (p.Pro1037=)
c.3156G>T (p.Pro1052=)
c.3021G>T (p.Pro1007=)
c.3153G>T (p.Pro1051=)
n.226G>T
c.3018G>T (p.Pro1006=)
n.3314G>T
2g.71570628dupCA2580067857DYSFc.487dup (p.Glu163GlyfsTer11)
c.3061dup (p.Glu1021GlyfsTer11)
c.3115dup (p.Glu1039GlyfsTer11)
c.3064dup (p.Glu1022GlyfsTer11)
c.3112dup (p.Glu1038GlyfsTer11)
c.3157dup (p.Glu1053GlyfsTer11)
c.3022dup (p.Glu1008GlyfsTer11)
c.3154dup (p.Glu1052GlyfsTer11)
n.227dup
c.3019dup (p.Glu1007GlyfsTer11)
n.3315dup
ClinVar
2g.71570628G>ACA347216944DYSFc.487G>A (p.Glu163Lys)
c.3061G>A (p.Glu1021Lys)
c.3115G>A (p.Glu1039Lys)
c.3064G>A (p.Glu1022Lys)
c.3112G>A (p.Glu1038Lys)
c.3157G>A (p.Glu1053Lys)
c.3022G>A (p.Glu1008Lys)
c.3154G>A (p.Glu1052Lys)
n.227G>A
c.3019G>A (p.Glu1007Lys)
n.3315G>A
COSMIC COSMIC
2g.71570628G>CCA347216945DYSFc.487G>C (p.Glu163Gln)
c.3061G>C (p.Glu1021Gln)
c.3115G>C (p.Glu1039Gln)
c.3064G>C (p.Glu1022Gln)
c.3112G>C (p.Glu1038Gln)
c.3157G>C (p.Glu1053Gln)
c.3022G>C (p.Glu1008Gln)
c.3154G>C (p.Glu1052Gln)
n.227G>C
c.3019G>C (p.Glu1007Gln)
n.3315G>C
dbSNP gnomAD v2 gnomAD v4
2g.71570628G=CA1260104087DYSFc.487G= (p.Glu163=)
c.3061G= (p.Glu1021=)
c.3115G= (p.Glu1039=)
c.3064G= (p.Glu1022=)
c.3112G= (p.Glu1038=)
c.3157G= (p.Glu1053=)
c.3022G= (p.Glu1008=)
c.3154G= (p.Glu1052=)
n.227G=
c.3019G= (p.Glu1007=)
n.3315G=
2g.71570628G>TCA347216946DYSFc.487G>T (p.Glu163Ter)
c.3061G>T (p.Glu1021Ter)
c.3115G>T (p.Glu1039Ter)
c.3064G>T (p.Glu1022Ter)
c.3112G>T (p.Glu1038Ter)
c.3157G>T (p.Glu1053Ter)
c.3022G>T (p.Glu1008Ter)
c.3154G>T (p.Glu1052Ter)
n.227G>T
c.3019G>T (p.Glu1007Ter)
n.3315G>T
2g.71570629A=CA1260104088DYSFc.488A= (p.Glu163=)
c.3062A= (p.Glu1021=)
c.3116A= (p.Glu1039=)
c.3065A= (p.Glu1022=)
c.3113A= (p.Glu1038=)
c.3158A= (p.Glu1053=)
c.3023A= (p.Glu1008=)
c.3155A= (p.Glu1052=)
n.228A=
c.3020A= (p.Glu1007=)
n.3316A=
2g.71570629A>CCA347216947DYSFc.488A>C (p.Glu163Ala)
c.3062A>C (p.Glu1021Ala)
c.3116A>C (p.Glu1039Ala)
c.3065A>C (p.Glu1022Ala)
c.3113A>C (p.Glu1038Ala)
c.3158A>C (p.Glu1053Ala)
c.3023A>C (p.Glu1008Ala)
c.3155A>C (p.Glu1052Ala)
n.228A>C
c.3020A>C (p.Glu1007Ala)
n.3316A>C
2g.71570629A>GCA347216948DYSFc.488A>G (p.Glu163Gly)
c.3062A>G (p.Glu1021Gly)
c.3116A>G (p.Glu1039Gly)
c.3065A>G (p.Glu1022Gly)
c.3113A>G (p.Glu1038Gly)
c.3158A>G (p.Glu1053Gly)
c.3023A>G (p.Glu1008Gly)
c.3155A>G (p.Glu1052Gly)
n.228A>G
c.3020A>G (p.Glu1007Gly)
n.3316A>G
2g.71570629A>TCA347216949DYSFc.488A>T (p.Glu163Val)
c.3062A>T (p.Glu1021Val)
c.3116A>T (p.Glu1039Val)
c.3065A>T (p.Glu1022Val)
c.3113A>T (p.Glu1038Val)
c.3158A>T (p.Glu1053Val)
c.3023A>T (p.Glu1008Val)
c.3155A>T (p.Glu1052Val)
n.228A>T
c.3020A>T (p.Glu1007Val)
n.3316A>T
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71570630G>ACA426702057DYSFc.489G>A (p.Glu163=)
c.3063G>A (p.Glu1021=)
c.3117G>A (p.Glu1039=)
c.3066G>A (p.Glu1022=)
c.3114G>A (p.Glu1038=)
c.3159G>A (p.Glu1053=)
c.3024G>A (p.Glu1008=)
c.3156G>A (p.Glu1052=)
n.229G>A
c.3021G>A (p.Glu1007=)
n.3317G>A
2g.71570630G>CCA347216950DYSFc.489G>C (p.Glu163Asp)
c.3063G>C (p.Glu1021Asp)
c.3117G>C (p.Glu1039Asp)
c.3066G>C (p.Glu1022Asp)
c.3114G>C (p.Glu1038Asp)
c.3159G>C (p.Glu1053Asp)
c.3024G>C (p.Glu1008Asp)
c.3156G>C (p.Glu1052Asp)
n.229G>C
c.3021G>C (p.Glu1007Asp)
n.3317G>C
2g.71570630G>TCA347216951DYSFc.489G>T (p.Glu163Asp)
c.3063G>T (p.Glu1021Asp)
c.3117G>T (p.Glu1039Asp)
c.3066G>T (p.Glu1022Asp)
c.3114G>T (p.Glu1038Asp)
c.3159G>T (p.Glu1053Asp)
c.3024G>T (p.Glu1008Asp)
c.3156G>T (p.Glu1052Asp)
n.229G>T
c.3021G>T (p.Glu1007Asp)
n.3317G>T
2g.71570631delCA2659549632DYSFc.490del (p.Arg164GlyfsTer?)
c.3064del (p.Arg1022GlyfsTer?)
c.3118del (p.Arg1040GlyfsTer?)
c.3067del (p.Arg1023GlyfsTer?)
c.3115del (p.Arg1039GlyfsTer?)
c.3160del (p.Arg1054GlyfsTer?)
c.3025del (p.Arg1009GlyfsTer?)
c.3157del (p.Arg1053GlyfsTer?)
n.230del
c.3022del (p.Arg1008GlyfsTer?)
n.3318del
gnomAD v4
2g.71570631C>ACA426702058DYSFc.490C>A (p.Arg164=)
c.3064C>A (p.Arg1022=)
c.3118C>A (p.Arg1040=)
c.3067C>A (p.Arg1023=)
c.3115C>A (p.Arg1039=)
c.3160C>A (p.Arg1054=)
c.3025C>A (p.Arg1009=)
c.3157C>A (p.Arg1053=)
n.230C>A
c.3022C>A (p.Arg1008=)
n.3318C>A
gnomAD v4
2g.71570631C=CA1260104089DYSFc.490C= (p.Arg164=)
c.3064C= (p.Arg1022=)
c.3118C= (p.Arg1040=)
c.3067C= (p.Arg1023=)
c.3115C= (p.Arg1039=)
c.3160C= (p.Arg1054=)
c.3025C= (p.Arg1009=)
c.3157C= (p.Arg1053=)
n.230C=
c.3022C= (p.Arg1008=)
n.3318C=
2g.71570631C>GCA347216952DYSFc.490C>G (p.Arg164Gly)
c.3064C>G (p.Arg1022Gly)
c.3118C>G (p.Arg1040Gly)
c.3067C>G (p.Arg1023Gly)
c.3115C>G (p.Arg1039Gly)
c.3160C>G (p.Arg1054Gly)
c.3025C>G (p.Arg1009Gly)
c.3157C>G (p.Arg1053Gly)
n.230C>G
c.3022C>G (p.Arg1008Gly)
n.3318C>G
2g.71570631C>TCA1706433DYSFc.490C>T (p.Arg164Trp)
c.3064C>T (p.Arg1022Trp)
c.3118C>T (p.Arg1040Trp)
c.3067C>T (p.Arg1023Trp)
c.3115C>T (p.Arg1039Trp)
c.3160C>T (p.Arg1054Trp)
c.3025C>T (p.Arg1009Trp)
c.3157C>T (p.Arg1053Trp)
n.230C>T
c.3022C>T (p.Arg1008Trp)
n.3318C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570632G>ACA147743DYSFc.491G>A (p.Arg164Gln)
c.3065G>A (p.Arg1022Gln)
c.3119G>A (p.Arg1040Gln)
c.3068G>A (p.Arg1023Gln)
c.3116G>A (p.Arg1039Gln)
c.3161G>A (p.Arg1054Gln)
c.3026G>A (p.Arg1009Gln)
c.3158G>A (p.Arg1053Gln)
n.231G>A
c.3023G>A (p.Arg1008Gln)
n.3319G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570632G>CCA347216953DYSFc.491G>C (p.Arg164Pro)
c.3065G>C (p.Arg1022Pro)
c.3119G>C (p.Arg1040Pro)
c.3068G>C (p.Arg1023Pro)
c.3116G>C (p.Arg1039Pro)
c.3161G>C (p.Arg1054Pro)
c.3026G>C (p.Arg1009Pro)
c.3158G>C (p.Arg1053Pro)
n.231G>C
c.3023G>C (p.Arg1008Pro)
n.3319G>C
2g.71570632G=CA1260104090DYSFc.491G= (p.Arg164=)
c.3065G= (p.Arg1022=)
c.3119G= (p.Arg1040=)
c.3068G= (p.Arg1023=)
c.3116G= (p.Arg1039=)
c.3161G= (p.Arg1054=)
c.3026G= (p.Arg1009=)
c.3158G= (p.Arg1053=)
n.231G=
c.3023G= (p.Arg1008=)
n.3319G=
2g.71570632G>TCA347216954DYSFc.491G>T (p.Arg164Leu)
c.3065G>T (p.Arg1022Leu)
c.3119G>T (p.Arg1040Leu)
c.3068G>T (p.Arg1023Leu)
c.3116G>T (p.Arg1039Leu)
c.3161G>T (p.Arg1054Leu)
c.3026G>T (p.Arg1009Leu)
c.3158G>T (p.Arg1053Leu)
n.231G>T
c.3023G>T (p.Arg1008Leu)
n.3319G>T
2g.71570633G>ACA1706434DYSFc.492G>A (p.Arg164=)
c.3066G>A (p.Arg1022=)
c.3120G>A (p.Arg1040=)
c.3069G>A (p.Arg1023=)
c.3117G>A (p.Arg1039=)
c.3162G>A (p.Arg1054=)
c.3027G>A (p.Arg1009=)
c.3159G>A (p.Arg1053=)
n.232G>A
c.3024G>A (p.Arg1008=)
n.3320G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71570633G>CCA426702059DYSFc.492G>C (p.Arg164=)
c.3066G>C (p.Arg1022=)
c.3120G>C (p.Arg1040=)
c.3069G>C (p.Arg1023=)
c.3117G>C (p.Arg1039=)
c.3162G>C (p.Arg1054=)
c.3027G>C (p.Arg1009=)
c.3159G>C (p.Arg1053=)
n.232G>C
c.3024G>C (p.Arg1008=)
n.3320G>C
2g.71570633G=CA1260104091DYSFc.492G= (p.Arg164=)
c.3066G= (p.Arg1022=)
c.3120G= (p.Arg1040=)
c.3069G= (p.Arg1023=)
c.3117G= (p.Arg1039=)
c.3162G= (p.Arg1054=)
c.3027G= (p.Arg1009=)
c.3159G= (p.Arg1053=)
n.232G=
c.3024G= (p.Arg1008=)
n.3320G=
2g.71570633G>TCA426702060DYSFc.492G>T (p.Arg164=)
c.3066G>T (p.Arg1022=)
c.3120G>T (p.Arg1040=)
c.3069G>T (p.Arg1023=)
c.3117G>T (p.Arg1039=)
c.3162G>T (p.Arg1054=)
c.3027G>T (p.Arg1009=)
c.3159G>T (p.Arg1053=)
n.232G>T
c.3024G>T (p.Arg1008=)
n.3320G>T
2g.71570637_71570663dupCA2659549633DYSFc.496_522dup (p.Lys174_Met175insProLysHisTrpValProAlaGluLys)
c.3070_3096dup (p.Lys1032_Met1033insProLysHisTrpValProAlaGluLys)
c.3124_3150dup (p.Lys1050_Met1051insProLysHisTrpValProAlaGluLys)
c.3073_3099dup (p.Lys1033_Met1034insProLysHisTrpValProAlaGluLys)
c.3121_3147dup (p.Lys1049_Met1050insProLysHisTrpValProAlaGluLys)
c.3166_3192dup (p.Lys1064_Met1065insProLysHisTrpValProAlaGluLys)
c.3031_3057dup (p.Lys1019_Met1020insProLysHisTrpValProAlaGluLys)
c.3163_3189dup (p.Lys1063_Met1064insProLysHisTrpValProAlaGluLys)
n.236_262dup
c.3028_3054dup (p.Lys1018_Met1019insProLysHisTrpValProAlaGluLys)
n.3324_3350dup
gnomAD v4
2g.71570634A>CCA347216955DYSFc.493A>C (p.Lys165Gln)
c.3067A>C (p.Lys1023Gln)
c.3121A>C (p.Lys1041Gln)
c.3070A>C (p.Lys1024Gln)
c.3118A>C (p.Lys1040Gln)
c.3163A>C (p.Lys1055Gln)
c.3028A>C (p.Lys1010Gln)
c.3160A>C (p.Lys1054Gln)
n.233A>C
c.3025A>C (p.Lys1009Gln)
n.3321A>C
2g.71570634A>GCA347216956DYSFc.493A>G (p.Lys165Glu)
c.3067A>G (p.Lys1023Glu)
c.3121A>G (p.Lys1041Glu)
c.3070A>G (p.Lys1024Glu)
c.3118A>G (p.Lys1040Glu)
c.3163A>G (p.Lys1055Glu)
c.3028A>G (p.Lys1010Glu)
c.3160A>G (p.Lys1054Glu)
n.233A>G
c.3025A>G (p.Lys1009Glu)
n.3321A>G
2g.71570634A>TCA347216957DYSFc.493A>T (p.Lys165Ter)
c.3067A>T (p.Lys1023Ter)
c.3121A>T (p.Lys1041Ter)
c.3070A>T (p.Lys1024Ter)
c.3118A>T (p.Lys1040Ter)
c.3163A>T (p.Lys1055Ter)
c.3028A>T (p.Lys1010Ter)
c.3160A>T (p.Lys1054Ter)
n.233A>T
c.3025A>T (p.Lys1009Ter)
n.3321A>T
2g.71570635A>CCA347216958DYSFc.494A>C (p.Lys165Thr)
c.3068A>C (p.Lys1023Thr)
c.3122A>C (p.Lys1041Thr)
c.3071A>C (p.Lys1024Thr)
c.3119A>C (p.Lys1040Thr)
c.3164A>C (p.Lys1055Thr)
c.3029A>C (p.Lys1010Thr)
c.3161A>C (p.Lys1054Thr)
n.234A>C
c.3026A>C (p.Lys1009Thr)
n.3322A>C
2g.71570635A>GCA347216959DYSFc.494A>G (p.Lys165Arg)
c.3068A>G (p.Lys1023Arg)
c.3122A>G (p.Lys1041Arg)
c.3071A>G (p.Lys1024Arg)
c.3119A>G (p.Lys1040Arg)
c.3164A>G (p.Lys1055Arg)
c.3029A>G (p.Lys1010Arg)
c.3161A>G (p.Lys1054Arg)
n.234A>G
c.3026A>G (p.Lys1009Arg)
n.3322A>G
2g.71570635A>TCA347216960DYSFc.494A>T (p.Lys165Met)
c.3068A>T (p.Lys1023Met)
c.3122A>T (p.Lys1041Met)
c.3071A>T (p.Lys1024Met)
c.3119A>T (p.Lys1040Met)
c.3164A>T (p.Lys1055Met)
c.3029A>T (p.Lys1010Met)
c.3161A>T (p.Lys1054Met)
n.234A>T
c.3026A>T (p.Lys1009Met)
n.3322A>T
2g.71570636G>ACA426702061DYSFc.495G>A (p.Lys165=)
c.3069G>A (p.Lys1023=)
c.3123G>A (p.Lys1041=)
c.3072G>A (p.Lys1024=)
c.3120G>A (p.Lys1040=)
c.3165G>A (p.Lys1055=)
c.3030G>A (p.Lys1010=)
c.3162G>A (p.Lys1054=)
n.235G>A
c.3027G>A (p.Lys1009=)
n.3323G>A
2g.71570636G>CCA347216961DYSFc.495G>C (p.Lys165Asn)
c.3069G>C (p.Lys1023Asn)
c.3123G>C (p.Lys1041Asn)
c.3072G>C (p.Lys1024Asn)
c.3120G>C (p.Lys1040Asn)
c.3165G>C (p.Lys1055Asn)
c.3030G>C (p.Lys1010Asn)
c.3162G>C (p.Lys1054Asn)
n.235G>C
c.3027G>C (p.Lys1009Asn)
n.3323G>C
2g.71570636G>TCA347216962DYSFc.495G>T (p.Lys165Asn)
c.3069G>T (p.Lys1023Asn)
c.3123G>T (p.Lys1041Asn)
c.3072G>T (p.Lys1024Asn)
c.3120G>T (p.Lys1040Asn)
c.3165G>T (p.Lys1055Asn)
c.3030G>T (p.Lys1010Asn)
c.3162G>T (p.Lys1054Asn)
n.235G>T
c.3027G>T (p.Lys1009Asn)
n.3323G>T
2g.71570637C>ACA347216964DYSFc.496C>A (p.Pro166Thr)
c.3070C>A (p.Pro1024Thr)
c.3124C>A (p.Pro1042Thr)
c.3073C>A (p.Pro1025Thr)
c.3121C>A (p.Pro1041Thr)
c.3166C>A (p.Pro1056Thr)
c.3031C>A (p.Pro1011Thr)
c.3163C>A (p.Pro1055Thr)
n.236C>A
c.3028C>A (p.Pro1010Thr)
n.3324C>A
2g.71570637C>GCA347216965DYSFc.496C>G (p.Pro166Ala)
c.3070C>G (p.Pro1024Ala)
c.3124C>G (p.Pro1042Ala)
c.3073C>G (p.Pro1025Ala)
c.3121C>G (p.Pro1041Ala)
c.3166C>G (p.Pro1056Ala)
c.3031C>G (p.Pro1011Ala)
c.3163C>G (p.Pro1055Ala)
n.236C>G
c.3028C>G (p.Pro1010Ala)
n.3324C>G
2g.71570637C>TCA347216963DYSFc.496C>T (p.Pro166Ser)
c.3070C>T (p.Pro1024Ser)
c.3124C>T (p.Pro1042Ser)
c.3073C>T (p.Pro1025Ser)
c.3121C>T (p.Pro1041Ser)
c.3166C>T (p.Pro1056Ser)
c.3031C>T (p.Pro1011Ser)
c.3163C>T (p.Pro1055Ser)
n.236C>T
c.3028C>T (p.Pro1010Ser)
n.3324C>T
2g.71570638C>ACA347216967DYSFc.497C>A (p.Pro166Gln)
c.3071C>A (p.Pro1024Gln)
c.3125C>A (p.Pro1042Gln)
c.3074C>A (p.Pro1025Gln)
c.3122C>A (p.Pro1041Gln)
c.3167C>A (p.Pro1056Gln)
c.3032C>A (p.Pro1011Gln)
c.3164C>A (p.Pro1055Gln)
n.237C>A
c.3029C>A (p.Pro1010Gln)
n.3325C>A
2g.71570638C=CA1260104092DYSFc.497C= (p.Pro166=)
c.3071C= (p.Pro1024=)
c.3125C= (p.Pro1042=)
c.3074C= (p.Pro1025=)
c.3122C= (p.Pro1041=)
c.3167C= (p.Pro1056=)
c.3032C= (p.Pro1011=)
c.3164C= (p.Pro1055=)
n.237C=
c.3029C= (p.Pro1010=)
n.3325C=
2g.71570638C>GCA347216966DYSFc.497C>G (p.Pro166Arg)
c.3071C>G (p.Pro1024Arg)
c.3125C>G (p.Pro1042Arg)
c.3074C>G (p.Pro1025Arg)
c.3122C>G (p.Pro1041Arg)
c.3167C>G (p.Pro1056Arg)
c.3032C>G (p.Pro1011Arg)
c.3164C>G (p.Pro1055Arg)
n.237C>G
c.3029C>G (p.Pro1010Arg)
n.3325C>G
2g.71570638C>TCA1706435DYSFc.497C>T (p.Pro166Leu)
c.3071C>T (p.Pro1024Leu)
c.3125C>T (p.Pro1042Leu)
c.3074C>T (p.Pro1025Leu)
c.3122C>T (p.Pro1041Leu)
c.3167C>T (p.Pro1056Leu)
c.3032C>T (p.Pro1011Leu)
c.3164C>T (p.Pro1055Leu)
n.237C>T
c.3029C>T (p.Pro1010Leu)
n.3325C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71570639G>ACA1706436DYSFc.498G>A (p.Pro166=)
c.3072G>A (p.Pro1024=)
c.3126G>A (p.Pro1042=)
c.3075G>A (p.Pro1025=)
c.3123G>A (p.Pro1041=)
c.3168G>A (p.Pro1056=)
c.3033G>A (p.Pro1011=)
c.3165G>A (p.Pro1055=)
n.238G>A
c.3030G>A (p.Pro1010=)
n.3326G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570639G>CCA426702063DYSFc.498G>C (p.Pro166=)
c.3072G>C (p.Pro1024=)
c.3126G>C (p.Pro1042=)
c.3075G>C (p.Pro1025=)
c.3123G>C (p.Pro1041=)
c.3168G>C (p.Pro1056=)
c.3033G>C (p.Pro1011=)
c.3165G>C (p.Pro1055=)
n.238G>C
c.3030G>C (p.Pro1010=)
n.3326G>C
ClinVar dbSNP gnomAD v4
2g.71570639G=CA1260104093DYSFc.498G= (p.Pro166=)
c.3072G= (p.Pro1024=)
c.3126G= (p.Pro1042=)
c.3075G= (p.Pro1025=)
c.3123G= (p.Pro1041=)
c.3168G= (p.Pro1056=)
c.3033G= (p.Pro1011=)
c.3165G= (p.Pro1055=)
n.238G=
c.3030G= (p.Pro1010=)
n.3326G=
2g.71570639G>TCA426702062DYSFc.498G>T (p.Pro166=)
c.3072G>T (p.Pro1024=)
c.3126G>T (p.Pro1042=)
c.3075G>T (p.Pro1025=)
c.3123G>T (p.Pro1041=)
c.3168G>T (p.Pro1056=)
c.3033G>T (p.Pro1011=)
c.3165G>T (p.Pro1055=)
n.238G>T
c.3030G>T (p.Pro1010=)
n.3326G>T
2g.71570640A>CCA347216969DYSFc.499A>C (p.Lys167Gln)
c.3073A>C (p.Lys1025Gln)
c.3127A>C (p.Lys1043Gln)
c.3076A>C (p.Lys1026Gln)
c.3124A>C (p.Lys1042Gln)
c.3169A>C (p.Lys1057Gln)
c.3034A>C (p.Lys1012Gln)
c.3166A>C (p.Lys1056Gln)
n.239A>C
c.3031A>C (p.Lys1011Gln)
n.3327A>C
2g.71570640A>GCA347216968DYSFc.499A>G (p.Lys167Glu)
c.3073A>G (p.Lys1025Glu)
c.3127A>G (p.Lys1043Glu)
c.3076A>G (p.Lys1026Glu)
c.3124A>G (p.Lys1042Glu)
c.3169A>G (p.Lys1057Glu)
c.3034A>G (p.Lys1012Glu)
c.3166A>G (p.Lys1056Glu)
n.239A>G
c.3031A>G (p.Lys1011Glu)
n.3327A>G
gnomAD v4
2g.71570640A>TCA347216970DYSFc.499A>T (p.Lys167Ter)
c.3073A>T (p.Lys1025Ter)
c.3127A>T (p.Lys1043Ter)
c.3076A>T (p.Lys1026Ter)
c.3124A>T (p.Lys1042Ter)
c.3169A>T (p.Lys1057Ter)
c.3034A>T (p.Lys1012Ter)
c.3166A>T (p.Lys1056Ter)
n.239A>T
c.3031A>T (p.Lys1011Ter)
n.3327A>T
gnomAD v4
2g.71570641A>CCA347216971DYSFc.500A>C (p.Lys167Thr)
c.3074A>C (p.Lys1025Thr)
c.3128A>C (p.Lys1043Thr)
c.3077A>C (p.Lys1026Thr)
c.3125A>C (p.Lys1042Thr)
c.3170A>C (p.Lys1057Thr)
c.3035A>C (p.Lys1012Thr)
c.3167A>C (p.Lys1056Thr)
n.240A>C
c.3032A>C (p.Lys1011Thr)
n.3328A>C
2g.71570641A>GCA347216973DYSFc.500A>G (p.Lys167Arg)
c.3074A>G (p.Lys1025Arg)
c.3128A>G (p.Lys1043Arg)
c.3077A>G (p.Lys1026Arg)
c.3125A>G (p.Lys1042Arg)
c.3170A>G (p.Lys1057Arg)
c.3035A>G (p.Lys1012Arg)
c.3167A>G (p.Lys1056Arg)
n.240A>G
c.3032A>G (p.Lys1011Arg)
n.3328A>G
2g.71570641A>TCA347216972DYSFc.500A>T (p.Lys167Met)
c.3074A>T (p.Lys1025Met)
c.3128A>T (p.Lys1043Met)
c.3077A>T (p.Lys1026Met)
c.3125A>T (p.Lys1042Met)
c.3170A>T (p.Lys1057Met)
c.3035A>T (p.Lys1012Met)
c.3167A>T (p.Lys1056Met)
n.240A>T
c.3032A>T (p.Lys1011Met)
n.3328A>T
2g.71570642G>ACA426702064DYSFc.501G>A (p.Lys167=)
c.3075G>A (p.Lys1025=)
c.3129G>A (p.Lys1043=)
c.3078G>A (p.Lys1026=)
c.3126G>A (p.Lys1042=)
c.3171G>A (p.Lys1057=)
c.3036G>A (p.Lys1012=)
c.3168G>A (p.Lys1056=)
n.241G>A
c.3033G>A (p.Lys1011=)
n.3329G>A
dbSNP gnomAD v2 gnomAD v4
2g.71570642G>CCA347216974DYSFc.501G>C (p.Lys167Asn)
c.3075G>C (p.Lys1025Asn)
c.3129G>C (p.Lys1043Asn)
c.3078G>C (p.Lys1026Asn)
c.3126G>C (p.Lys1042Asn)
c.3171G>C (p.Lys1057Asn)
c.3036G>C (p.Lys1012Asn)
c.3168G>C (p.Lys1056Asn)
n.241G>C
c.3033G>C (p.Lys1011Asn)
n.3329G>C
2g.71570642G=CA1260104094DYSFc.501G= (p.Lys167=)
c.3075G= (p.Lys1025=)
c.3129G= (p.Lys1043=)
c.3078G= (p.Lys1026=)
c.3126G= (p.Lys1042=)
c.3171G= (p.Lys1057=)
c.3036G= (p.Lys1012=)
c.3168G= (p.Lys1056=)
n.241G=
c.3033G= (p.Lys1011=)
n.3329G=
2g.71570642G>TCA347216975DYSFc.501G>T (p.Lys167Asn)
c.3075G>T (p.Lys1025Asn)
c.3129G>T (p.Lys1043Asn)
c.3078G>T (p.Lys1026Asn)
c.3126G>T (p.Lys1042Asn)
c.3171G>T (p.Lys1057Asn)
c.3036G>T (p.Lys1012Asn)
c.3168G>T (p.Lys1056Asn)
n.241G>T
c.3033G>T (p.Lys1011Asn)
n.3329G>T
2g.71570643C>ACA347216976DYSFc.502C>A (p.His168Asn)
c.3076C>A (p.His1026Asn)
c.3130C>A (p.His1044Asn)
c.3079C>A (p.His1027Asn)
c.3127C>A (p.His1043Asn)
c.3172C>A (p.His1058Asn)
c.3037C>A (p.His1013Asn)
c.3169C>A (p.His1057Asn)
n.242C>A
c.3034C>A (p.His1012Asn)
n.3330C>A
2g.71570643C>GCA347216977DYSFc.502C>G (p.His168Asp)
c.3076C>G (p.His1026Asp)
c.3130C>G (p.His1044Asp)
c.3079C>G (p.His1027Asp)
c.3127C>G (p.His1043Asp)
c.3172C>G (p.His1058Asp)
c.3037C>G (p.His1013Asp)
c.3169C>G (p.His1057Asp)
n.242C>G
c.3034C>G (p.His1012Asp)
n.3330C>G
2g.71570643C>TCA347216978DYSFc.502C>T (p.His168Tyr)
c.3076C>T (p.His1026Tyr)
c.3130C>T (p.His1044Tyr)
c.3079C>T (p.His1027Tyr)
c.3127C>T (p.His1043Tyr)
c.3172C>T (p.His1058Tyr)
c.3037C>T (p.His1013Tyr)
c.3169C>T (p.His1057Tyr)
n.242C>T
c.3034C>T (p.His1012Tyr)
n.3330C>T
2g.71570644A=CA1260104095DYSFc.503A= (p.His168=)
c.3077A= (p.His1026=)
c.3131A= (p.His1044=)
c.3080A= (p.His1027=)
c.3128A= (p.His1043=)
c.3173A= (p.His1058=)
c.3038A= (p.His1013=)
c.3170A= (p.His1057=)
n.243A=
c.3035A= (p.His1012=)
n.3331A=
2g.71570644A>CCA347216979DYSFc.503A>C (p.His168Pro)
c.3077A>C (p.His1026Pro)
c.3131A>C (p.His1044Pro)
c.3080A>C (p.His1027Pro)
c.3128A>C (p.His1043Pro)
c.3173A>C (p.His1058Pro)
c.3038A>C (p.His1013Pro)
c.3170A>C (p.His1057Pro)
n.243A>C
c.3035A>C (p.His1012Pro)
n.3331A>C
ClinVar dbSNP gnomAD v4
2g.71570644A>GCA347216980DYSFc.503A>G (p.His168Arg)
c.3077A>G (p.His1026Arg)
c.3131A>G (p.His1044Arg)
c.3080A>G (p.His1027Arg)
c.3128A>G (p.His1043Arg)
c.3173A>G (p.His1058Arg)
c.3038A>G (p.His1013Arg)
c.3170A>G (p.His1057Arg)
n.243A>G
c.3035A>G (p.His1012Arg)
n.3331A>G
dbSNP
2g.71570644A>TCA347216981DYSFc.503A>T (p.His168Leu)
c.3077A>T (p.His1026Leu)
c.3131A>T (p.His1044Leu)
c.3080A>T (p.His1027Leu)
c.3128A>T (p.His1043Leu)
c.3173A>T (p.His1058Leu)
c.3038A>T (p.His1013Leu)
c.3170A>T (p.His1057Leu)
n.243A>T
c.3035A>T (p.His1012Leu)
n.3331A>T
2g.71570645C>ACA347216982DYSFc.504C>A (p.His168Gln)
c.3078C>A (p.His1026Gln)
c.3132C>A (p.His1044Gln)
c.3081C>A (p.His1027Gln)
c.3129C>A (p.His1043Gln)
c.3174C>A (p.His1058Gln)
c.3039C>A (p.His1013Gln)
c.3171C>A (p.His1057Gln)
n.244C>A
c.3036C>A (p.His1012Gln)
n.3332C>A
2g.71570645C>GCA347216983DYSFc.504C>G (p.His168Gln)
c.3078C>G (p.His1026Gln)
c.3132C>G (p.His1044Gln)
c.3081C>G (p.His1027Gln)
c.3129C>G (p.His1043Gln)
c.3174C>G (p.His1058Gln)
c.3039C>G (p.His1013Gln)
c.3171C>G (p.His1057Gln)
n.244C>G
c.3036C>G (p.His1012Gln)
n.3332C>G
2g.71570645C>TCA426702065DYSFc.504C>T (p.His168=)
c.3078C>T (p.His1026=)
c.3132C>T (p.His1044=)
c.3081C>T (p.His1027=)
c.3129C>T (p.His1043=)
c.3174C>T (p.His1058=)
c.3039C>T (p.His1013=)
c.3171C>T (p.His1057=)
n.244C>T
c.3036C>T (p.His1012=)
n.3332C>T
2g.71570646T>ACA347216986DYSFc.505T>A (p.Trp169Arg)
c.3079T>A (p.Trp1027Arg)
c.3133T>A (p.Trp1045Arg)
c.3082T>A (p.Trp1028Arg)
c.3130T>A (p.Trp1044Arg)
c.3175T>A (p.Trp1059Arg)
c.3040T>A (p.Trp1014Arg)
c.3172T>A (p.Trp1058Arg)
n.245T>A
c.3037T>A (p.Trp1013Arg)
n.3333T>A
2g.71570646T>CCA347216985DYSFc.505T>C (p.Trp169Arg)
c.3079T>C (p.Trp1027Arg)
c.3133T>C (p.Trp1045Arg)
c.3082T>C (p.Trp1028Arg)
c.3130T>C (p.Trp1044Arg)
c.3175T>C (p.Trp1059Arg)
c.3040T>C (p.Trp1014Arg)
c.3172T>C (p.Trp1058Arg)
n.245T>C
c.3037T>C (p.Trp1013Arg)
n.3333T>C
gnomAD v4
2g.71570646T>GCA347216984DYSFc.505T>G (p.Trp169Gly)
c.3079T>G (p.Trp1027Gly)
c.3133T>G (p.Trp1045Gly)
c.3082T>G (p.Trp1028Gly)
c.3130T>G (p.Trp1044Gly)
c.3175T>G (p.Trp1059Gly)
c.3040T>G (p.Trp1014Gly)
c.3172T>G (p.Trp1058Gly)
n.245T>G
c.3037T>G (p.Trp1013Gly)
n.3333T>G
2g.71570647G>ACA347216987DYSFc.506G>A (p.Trp169Ter)
c.3080G>A (p.Trp1027Ter)
c.3134G>A (p.Trp1045Ter)
c.3083G>A (p.Trp1028Ter)
c.3131G>A (p.Trp1044Ter)
c.3176G>A (p.Trp1059Ter)
c.3041G>A (p.Trp1014Ter)
c.3173G>A (p.Trp1058Ter)
n.246G>A
c.3038G>A (p.Trp1013Ter)
n.3334G>A
ClinVar dbSNP
2g.71570647G>CCA1706437DYSFc.506G>C (p.Trp169Ser)
c.3080G>C (p.Trp1027Ser)
c.3134G>C (p.Trp1045Ser)
c.3083G>C (p.Trp1028Ser)
c.3131G>C (p.Trp1044Ser)
c.3176G>C (p.Trp1059Ser)
c.3041G>C (p.Trp1014Ser)
c.3173G>C (p.Trp1058Ser)
n.246G>C
c.3038G>C (p.Trp1013Ser)
n.3334G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570647G=CA1260104096DYSFc.506G= (p.Trp169=)
c.3080G= (p.Trp1027=)
c.3134G= (p.Trp1045=)
c.3083G= (p.Trp1028=)
c.3131G= (p.Trp1044=)
c.3176G= (p.Trp1059=)
c.3041G= (p.Trp1014=)
c.3173G= (p.Trp1058=)
n.246G=
c.3038G= (p.Trp1013=)
n.3334G=
2g.71570647G>TCA347216988DYSFc.506G>T (p.Trp169Leu)
c.3080G>T (p.Trp1027Leu)
c.3134G>T (p.Trp1045Leu)
c.3083G>T (p.Trp1028Leu)
c.3131G>T (p.Trp1044Leu)
c.3176G>T (p.Trp1059Leu)
c.3041G>T (p.Trp1014Leu)
c.3173G>T (p.Trp1058Leu)
n.246G>T
c.3038G>T (p.Trp1013Leu)
n.3334G>T
2g.71570648G>ACA347216989DYSFc.507G>A (p.Trp169Ter)
c.3081G>A (p.Trp1027Ter)
c.3135G>A (p.Trp1045Ter)
c.3084G>A (p.Trp1028Ter)
c.3132G>A (p.Trp1044Ter)
c.3177G>A (p.Trp1059Ter)
c.3042G>A (p.Trp1014Ter)
c.3174G>A (p.Trp1058Ter)
n.247G>A
c.3039G>A (p.Trp1013Ter)
n.3335G>A
ClinVar
2g.71570648G>CCA347216990DYSFc.507G>C (p.Trp169Cys)
c.3081G>C (p.Trp1027Cys)
c.3135G>C (p.Trp1045Cys)
c.3084G>C (p.Trp1028Cys)
c.3132G>C (p.Trp1044Cys)
c.3177G>C (p.Trp1059Cys)
c.3042G>C (p.Trp1014Cys)
c.3174G>C (p.Trp1058Cys)
n.247G>C
c.3039G>C (p.Trp1013Cys)
n.3335G>C
2g.71570648G>TCA347216991DYSFc.507G>T (p.Trp169Cys)
c.3081G>T (p.Trp1027Cys)
c.3135G>T (p.Trp1045Cys)
c.3084G>T (p.Trp1028Cys)
c.3132G>T (p.Trp1044Cys)
c.3177G>T (p.Trp1059Cys)
c.3042G>T (p.Trp1014Cys)
c.3174G>T (p.Trp1058Cys)
n.247G>T
c.3039G>T (p.Trp1013Cys)
n.3335G>T
2g.71570649G>ACA347216992DYSFc.508G>A (p.Val170Ile)
c.3082G>A (p.Val1028Ile)
c.3136G>A (p.Val1046Ile)
c.3085G>A (p.Val1029Ile)
c.3133G>A (p.Val1045Ile)
c.3178G>A (p.Val1060Ile)
c.3043G>A (p.Val1015Ile)
c.3175G>A (p.Val1059Ile)
n.248G>A
c.3040G>A (p.Val1014Ile)
n.3336G>A
dbSNP
2g.71570649G>CCA347216993DYSFc.508G>C (p.Val170Leu)
c.3082G>C (p.Val1028Leu)
c.3136G>C (p.Val1046Leu)
c.3085G>C (p.Val1029Leu)
c.3133G>C (p.Val1045Leu)
c.3178G>C (p.Val1060Leu)
c.3043G>C (p.Val1015Leu)
c.3175G>C (p.Val1059Leu)
n.248G>C
c.3040G>C (p.Val1014Leu)
n.3336G>C
2g.71570649G=CA1260104097DYSFc.508G= (p.Val170=)
c.3082G= (p.Val1028=)
c.3136G= (p.Val1046=)
c.3085G= (p.Val1029=)
c.3133G= (p.Val1045=)
c.3178G= (p.Val1060=)
c.3043G= (p.Val1015=)
c.3175G= (p.Val1059=)
n.248G=
c.3040G= (p.Val1014=)
n.3336G=
2g.71570649G>TCA347216994DYSFc.508G>T (p.Val170Phe)
c.3082G>T (p.Val1028Phe)
c.3136G>T (p.Val1046Phe)
c.3085G>T (p.Val1029Phe)
c.3133G>T (p.Val1045Phe)
c.3178G>T (p.Val1060Phe)
c.3043G>T (p.Val1015Phe)
c.3175G>T (p.Val1059Phe)
n.248G>T
c.3040G>T (p.Val1014Phe)
n.3336G>T
2g.71570650T>ACA347216995DYSFc.509T>A (p.Val170Asp)
c.3083T>A (p.Val1028Asp)
c.3137T>A (p.Val1046Asp)
c.3086T>A (p.Val1029Asp)
c.3134T>A (p.Val1045Asp)
c.3179T>A (p.Val1060Asp)
c.3044T>A (p.Val1015Asp)
c.3176T>A (p.Val1059Asp)
n.249T>A
c.3041T>A (p.Val1014Asp)
n.3337T>A
2g.71570650T>CCA347216996DYSFc.509T>C (p.Val170Ala)
c.3083T>C (p.Val1028Ala)
c.3137T>C (p.Val1046Ala)
c.3086T>C (p.Val1029Ala)
c.3134T>C (p.Val1045Ala)
c.3179T>C (p.Val1060Ala)
c.3044T>C (p.Val1015Ala)
c.3176T>C (p.Val1059Ala)
n.249T>C
c.3041T>C (p.Val1014Ala)
n.3337T>C
2g.71570650T>GCA347216997DYSFc.509T>G (p.Val170Gly)
c.3083T>G (p.Val1028Gly)
c.3137T>G (p.Val1046Gly)
c.3086T>G (p.Val1029Gly)
c.3134T>G (p.Val1045Gly)
c.3179T>G (p.Val1060Gly)
c.3044T>G (p.Val1015Gly)
c.3176T>G (p.Val1059Gly)
n.249T>G
c.3041T>G (p.Val1014Gly)
n.3337T>G
dbSNP
2g.71570650T=CA1260104098DYSFc.509T= (p.Val170=)
c.3083T= (p.Val1028=)
c.3137T= (p.Val1046=)
c.3086T= (p.Val1029=)
c.3134T= (p.Val1045=)
c.3179T= (p.Val1060=)
c.3044T= (p.Val1015=)
c.3176T= (p.Val1059=)
n.249T=
c.3041T= (p.Val1014=)
n.3337T=
2g.71570651C>ACA426702066DYSFc.510C>A (p.Val170=)
c.3084C>A (p.Val1028=)
c.3138C>A (p.Val1046=)
c.3087C>A (p.Val1029=)
c.3135C>A (p.Val1045=)
c.3180C>A (p.Val1060=)
c.3045C>A (p.Val1015=)
c.3177C>A (p.Val1059=)
n.250C>A
c.3042C>A (p.Val1014=)
n.3338C>A
2g.71570651C=CA1260104099DYSFc.510C= (p.Val170=)
c.3084C= (p.Val1028=)
c.3138C= (p.Val1046=)
c.3087C= (p.Val1029=)
c.3135C= (p.Val1045=)
c.3180C= (p.Val1060=)
c.3045C= (p.Val1015=)
c.3177C= (p.Val1059=)
n.250C=
c.3042C= (p.Val1014=)
n.3338C=
2g.71570651C>GCA1706438DYSFc.510C>G (p.Val170=)
c.3084C>G (p.Val1028=)
c.3138C>G (p.Val1046=)
c.3087C>G (p.Val1029=)
c.3135C>G (p.Val1045=)
c.3180C>G (p.Val1060=)
c.3045C>G (p.Val1015=)
c.3177C>G (p.Val1059=)
n.250C>G
c.3042C>G (p.Val1014=)
n.3338C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570651C>TCA426702067DYSFc.510C>T (p.Val170=)
c.3084C>T (p.Val1028=)
c.3138C>T (p.Val1046=)
c.3087C>T (p.Val1029=)
c.3135C>T (p.Val1045=)
c.3180C>T (p.Val1060=)
c.3045C>T (p.Val1015=)
c.3177C>T (p.Val1059=)
n.250C>T
c.3042C>T (p.Val1014=)
n.3338C>T
2g.71570652C>ACA347217000DYSFc.511C>A (p.Pro171Thr)
c.3085C>A (p.Pro1029Thr)
c.3139C>A (p.Pro1047Thr)
c.3088C>A (p.Pro1030Thr)
c.3136C>A (p.Pro1046Thr)
c.3181C>A (p.Pro1061Thr)
c.3046C>A (p.Pro1016Thr)
c.3178C>A (p.Pro1060Thr)
n.251C>A
c.3043C>A (p.Pro1015Thr)
n.3339C>A
2g.71570652C=CA1260104100DYSFc.511C= (p.Pro171=)
c.3085C= (p.Pro1029=)
c.3139C= (p.Pro1047=)
c.3088C= (p.Pro1030=)
c.3136C= (p.Pro1046=)
c.3181C= (p.Pro1061=)
c.3046C= (p.Pro1016=)
c.3178C= (p.Pro1060=)
n.251C=
c.3043C= (p.Pro1015=)
n.3339C=
2g.71570652C>GCA347216998DYSFc.511C>G (p.Pro171Ala)
c.3085C>G (p.Pro1029Ala)
c.3139C>G (p.Pro1047Ala)
c.3088C>G (p.Pro1030Ala)
c.3136C>G (p.Pro1046Ala)
c.3181C>G (p.Pro1061Ala)
c.3046C>G (p.Pro1016Ala)
c.3178C>G (p.Pro1060Ala)
n.251C>G
c.3043C>G (p.Pro1015Ala)
n.3339C>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71570652C>TCA347216999DYSFc.511C>T (p.Pro171Ser)
c.3085C>T (p.Pro1029Ser)
c.3139C>T (p.Pro1047Ser)
c.3088C>T (p.Pro1030Ser)
c.3136C>T (p.Pro1046Ser)
c.3181C>T (p.Pro1061Ser)
c.3046C>T (p.Pro1016Ser)
c.3178C>T (p.Pro1060Ser)
n.251C>T
c.3043C>T (p.Pro1015Ser)
n.3339C>T
2g.71570653C>ACA347217001DYSFc.512C>A (p.Pro171His)
c.3086C>A (p.Pro1029His)
c.3140C>A (p.Pro1047His)
c.3089C>A (p.Pro1030His)
c.3137C>A (p.Pro1046His)
c.3182C>A (p.Pro1061His)
c.3047C>A (p.Pro1016His)
c.3179C>A (p.Pro1060His)
n.252C>A
c.3044C>A (p.Pro1015His)
n.3340C>A
2g.71570653C>GCA347217002DYSFc.512C>G (p.Pro171Arg)
c.3086C>G (p.Pro1029Arg)
c.3140C>G (p.Pro1047Arg)
c.3089C>G (p.Pro1030Arg)
c.3137C>G (p.Pro1046Arg)
c.3182C>G (p.Pro1061Arg)
c.3047C>G (p.Pro1016Arg)
c.3179C>G (p.Pro1060Arg)
n.252C>G
c.3044C>G (p.Pro1015Arg)
n.3340C>G
2g.71570653C>TCA347217003DYSFc.512C>T (p.Pro171Leu)
c.3086C>T (p.Pro1029Leu)
c.3140C>T (p.Pro1047Leu)
c.3089C>T (p.Pro1030Leu)
c.3137C>T (p.Pro1046Leu)
c.3182C>T (p.Pro1061Leu)
c.3047C>T (p.Pro1016Leu)
c.3179C>T (p.Pro1060Leu)
n.252C>T
c.3044C>T (p.Pro1015Leu)
n.3340C>T
2g.71570654T>ACA426702068DYSFc.513T>A (p.Pro171=)
c.3087T>A (p.Pro1029=)
c.3141T>A (p.Pro1047=)
c.3090T>A (p.Pro1030=)
c.3138T>A (p.Pro1046=)
c.3183T>A (p.Pro1061=)
c.3048T>A (p.Pro1016=)
c.3180T>A (p.Pro1060=)
n.253T>A
c.3045T>A (p.Pro1015=)
n.3341T>A
2g.71570654T>CCA426702069DYSFc.513T>C (p.Pro171=)
c.3087T>C (p.Pro1029=)
c.3141T>C (p.Pro1047=)
c.3090T>C (p.Pro1030=)
c.3138T>C (p.Pro1046=)
c.3183T>C (p.Pro1061=)
c.3048T>C (p.Pro1016=)
c.3180T>C (p.Pro1060=)
n.253T>C
c.3045T>C (p.Pro1015=)
n.3341T>C
ClinVar dbSNP
2g.71570654T>GCA1706439DYSFc.513T>G (p.Pro171=)
c.3087T>G (p.Pro1029=)
c.3141T>G (p.Pro1047=)
c.3090T>G (p.Pro1030=)
c.3138T>G (p.Pro1046=)
c.3183T>G (p.Pro1061=)
c.3048T>G (p.Pro1016=)
c.3180T>G (p.Pro1060=)
n.253T>G
c.3045T>G (p.Pro1015=)
n.3341T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71570654T=CA1260104101DYSFc.513T= (p.Pro171=)
c.3087T= (p.Pro1029=)
c.3141T= (p.Pro1047=)
c.3090T= (p.Pro1030=)
c.3138T= (p.Pro1046=)
c.3183T= (p.Pro1061=)
c.3048T= (p.Pro1016=)
c.3180T= (p.Pro1060=)
n.253T=
c.3045T= (p.Pro1015=)
n.3341T=
2g.71570655G>ACA347217004DYSFc.514G>A (p.Ala172Thr)
c.3088G>A (p.Ala1030Thr)
c.3142G>A (p.Ala1048Thr)
c.3091G>A (p.Ala1031Thr)
c.3139G>A (p.Ala1047Thr)
c.3184G>A (p.Ala1062Thr)
c.3049G>A (p.Ala1017Thr)
c.3181G>A (p.Ala1061Thr)
n.254G>A
c.3046G>A (p.Ala1016Thr)
n.3342G>A
2g.71570655G>CCA347217005DYSFc.514G>C (p.Ala172Pro)
c.3088G>C (p.Ala1030Pro)
c.3142G>C (p.Ala1048Pro)
c.3091G>C (p.Ala1031Pro)
c.3139G>C (p.Ala1047Pro)
c.3184G>C (p.Ala1062Pro)
c.3049G>C (p.Ala1017Pro)
c.3181G>C (p.Ala1061Pro)
n.254G>C
c.3046G>C (p.Ala1016Pro)
n.3342G>C
2g.71570655G>TCA347217006DYSFc.514G>T (p.Ala172Ser)
c.3088G>T (p.Ala1030Ser)
c.3142G>T (p.Ala1048Ser)
c.3091G>T (p.Ala1031Ser)
c.3139G>T (p.Ala1047Ser)
c.3184G>T (p.Ala1062Ser)
c.3049G>T (p.Ala1017Ser)
c.3181G>T (p.Ala1061Ser)
n.254G>T
c.3046G>T (p.Ala1016Ser)
n.3342G>T
gnomAD v4
2g.71570656C>ACA347217007DYSFc.515C>A (p.Ala172Asp)
c.3089C>A (p.Ala1030Asp)
c.3143C>A (p.Ala1048Asp)
c.3092C>A (p.Ala1031Asp)
c.3140C>A (p.Ala1047Asp)
c.3185C>A (p.Ala1062Asp)
c.3050C>A (p.Ala1017Asp)
c.3182C>A (p.Ala1061Asp)
n.255C>A
c.3047C>A (p.Ala1016Asp)
n.3343C>A
2g.71570656C>GCA347217008DYSFc.515C>G (p.Ala172Gly)
c.3089C>G (p.Ala1030Gly)
c.3143C>G (p.Ala1048Gly)
c.3092C>G (p.Ala1031Gly)
c.3140C>G (p.Ala1047Gly)
c.3185C>G (p.Ala1062Gly)
c.3050C>G (p.Ala1017Gly)
c.3182C>G (p.Ala1061Gly)
n.255C>G
c.3047C>G (p.Ala1016Gly)
n.3343C>G
2g.71570656C>TCA347217009DYSFc.515C>T (p.Ala172Val)
c.3089C>T (p.Ala1030Val)
c.3143C>T (p.Ala1048Val)
c.3092C>T (p.Ala1031Val)
c.3140C>T (p.Ala1047Val)
c.3185C>T (p.Ala1062Val)
c.3050C>T (p.Ala1017Val)
c.3182C>T (p.Ala1061Val)
n.255C>T
c.3047C>T (p.Ala1016Val)
n.3343C>T
gnomAD v4
2g.71570657T>ACA426702070DYSFc.516T>A (p.Ala172=)
c.3090T>A (p.Ala1030=)
c.3144T>A (p.Ala1048=)
c.3093T>A (p.Ala1031=)
c.3141T>A (p.Ala1047=)
c.3186T>A (p.Ala1062=)
c.3051T>A (p.Ala1017=)
c.3183T>A (p.Ala1061=)
n.256T>A
c.3048T>A (p.Ala1016=)
n.3344T>A
2g.71570657T>CCA49746706DYSFc.516T>C (p.Ala172=)
c.3090T>C (p.Ala1030=)
c.3144T>C (p.Ala1048=)
c.3093T>C (p.Ala1031=)
c.3141T>C (p.Ala1047=)
c.3186T>C (p.Ala1062=)
c.3051T>C (p.Ala1017=)
c.3183T>C (p.Ala1061=)
n.256T>C
c.3048T>C (p.Ala1016=)
n.3344T>C
ClinVar dbSNP
2g.71570657T>GCA426702071DYSFc.516T>G (p.Ala172=)
c.3090T>G (p.Ala1030=)
c.3144T>G (p.Ala1048=)
c.3093T>G (p.Ala1031=)
c.3141T>G (p.Ala1047=)
c.3186T>G (p.Ala1062=)
c.3051T>G (p.Ala1017=)
c.3183T>G (p.Ala1061=)
n.256T>G
c.3048T>G (p.Ala1016=)
n.3344T>G
2g.71570657T=CA1260104102DYSFc.516T= (p.Ala172=)
c.3090T= (p.Ala1030=)
c.3144T= (p.Ala1048=)
c.3093T= (p.Ala1031=)
c.3141T= (p.Ala1047=)
c.3186T= (p.Ala1062=)
c.3051T= (p.Ala1017=)
c.3183T= (p.Ala1061=)
n.256T=
c.3048T= (p.Ala1016=)
n.3344T=
2g.71570658G>ACA1706440DYSFc.517G>A (p.Glu173Lys)
c.3091G>A (p.Glu1031Lys)
c.3145G>A (p.Glu1049Lys)
c.3094G>A (p.Glu1032Lys)
c.3142G>A (p.Glu1048Lys)
c.3187G>A (p.Glu1063Lys)
c.3052G>A (p.Glu1018Lys)
c.3184G>A (p.Glu1062Lys)
n.257G>A
c.3049G>A (p.Glu1017Lys)
n.3345G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570658G>CCA347217011DYSFc.517G>C (p.Glu173Gln)
c.3091G>C (p.Glu1031Gln)
c.3145G>C (p.Glu1049Gln)
c.3094G>C (p.Glu1032Gln)
c.3142G>C (p.Glu1048Gln)
c.3187G>C (p.Glu1063Gln)
c.3052G>C (p.Glu1018Gln)
c.3184G>C (p.Glu1062Gln)
n.257G>C
c.3049G>C (p.Glu1017Gln)
n.3345G>C
2g.71570658G=CA1260104103DYSFc.517G= (p.Glu173=)
c.3091G= (p.Glu1031=)
c.3145G= (p.Glu1049=)
c.3094G= (p.Glu1032=)
c.3142G= (p.Glu1048=)
c.3187G= (p.Glu1063=)
c.3052G= (p.Glu1018=)
c.3184G= (p.Glu1062=)
n.257G=
c.3049G= (p.Glu1017=)
n.3345G=
2g.71570658G>TCA347217010DYSFc.517G>T (p.Glu173Ter)
c.3091G>T (p.Glu1031Ter)
c.3145G>T (p.Glu1049Ter)
c.3094G>T (p.Glu1032Ter)
c.3142G>T (p.Glu1048Ter)
c.3187G>T (p.Glu1063Ter)
c.3052G>T (p.Glu1018Ter)
c.3184G>T (p.Glu1062Ter)
n.257G>T
c.3049G>T (p.Glu1017Ter)
n.3345G>T
2g.71570659A>CCA347217012DYSFc.518A>C (p.Glu173Ala)
c.3092A>C (p.Glu1031Ala)
c.3146A>C (p.Glu1049Ala)
c.3095A>C (p.Glu1032Ala)
c.3143A>C (p.Glu1048Ala)
c.3188A>C (p.Glu1063Ala)
c.3053A>C (p.Glu1018Ala)
c.3185A>C (p.Glu1062Ala)
n.258A>C
c.3050A>C (p.Glu1017Ala)
n.3346A>C
2g.71570659A>GCA347217013DYSFc.518A>G (p.Glu173Gly)
c.3092A>G (p.Glu1031Gly)
c.3146A>G (p.Glu1049Gly)
c.3095A>G (p.Glu1032Gly)
c.3143A>G (p.Glu1048Gly)
c.3188A>G (p.Glu1063Gly)
c.3053A>G (p.Glu1018Gly)
c.3185A>G (p.Glu1062Gly)
n.258A>G
c.3050A>G (p.Glu1017Gly)
n.3346A>G
2g.71570659A>TCA347217014DYSFc.518A>T (p.Glu173Val)
c.3092A>T (p.Glu1031Val)
c.3146A>T (p.Glu1049Val)
c.3095A>T (p.Glu1032Val)
c.3143A>T (p.Glu1048Val)
c.3188A>T (p.Glu1063Val)
c.3053A>T (p.Glu1018Val)
c.3185A>T (p.Glu1062Val)
n.258A>T
c.3050A>T (p.Glu1017Val)
n.3346A>T
2g.71570662_71570664delCA2586969479DYSFc.521_523del (p.Lys174del)
c.3095_3097del (p.Lys1032del)
c.3149_3151del (p.Lys1050del)
c.3098_3100del (p.Lys1033del)
c.3146_3148del (p.Lys1049del)
c.3191_3193del (p.Lys1064del)
c.3056_3058del (p.Lys1019del)
c.3188_3190del (p.Lys1063del)
n.261_263del
c.3053_3055del (p.Lys1018del)
n.3349_3351del
gnomAD v4
2g.71570660G>ACA426702072DYSFc.519G>A (p.Glu173=)
c.3093G>A (p.Glu1031=)
c.3147G>A (p.Glu1049=)
c.3096G>A (p.Glu1032=)
c.3144G>A (p.Glu1048=)
c.3189G>A (p.Glu1063=)
c.3054G>A (p.Glu1018=)
c.3186G>A (p.Glu1062=)
n.259G>A
c.3051G>A (p.Glu1017=)
n.3347G>A
gnomAD v4
2g.71570660G>CCA347217015DYSFc.519G>C (p.Glu173Asp)
c.3093G>C (p.Glu1031Asp)
c.3147G>C (p.Glu1049Asp)
c.3096G>C (p.Glu1032Asp)
c.3144G>C (p.Glu1048Asp)
c.3189G>C (p.Glu1063Asp)
c.3054G>C (p.Glu1018Asp)
c.3186G>C (p.Glu1062Asp)
n.259G>C
c.3051G>C (p.Glu1017Asp)
n.3347G>C
2g.71570660G>TCA347217016DYSFc.519G>T (p.Glu173Asp)
c.3093G>T (p.Glu1031Asp)
c.3147G>T (p.Glu1049Asp)
c.3096G>T (p.Glu1032Asp)
c.3144G>T (p.Glu1048Asp)
c.3189G>T (p.Glu1063Asp)
c.3054G>T (p.Glu1018Asp)
c.3186G>T (p.Glu1062Asp)
n.259G>T
c.3051G>T (p.Glu1017Asp)
n.3347G>T
2g.71570661A=CA1260104104DYSFc.520A= (p.Lys174=)
c.3094A= (p.Lys1032=)
c.3148A= (p.Lys1050=)
c.3097A= (p.Lys1033=)
c.3145A= (p.Lys1049=)
c.3190A= (p.Lys1064=)
c.3055A= (p.Lys1019=)
c.3187A= (p.Lys1063=)
n.260A=
c.3052A= (p.Lys1018=)
n.3348A=
2g.71570661A>CCA347217017DYSFc.520A>C (p.Lys174Gln)
c.3094A>C (p.Lys1032Gln)
c.3148A>C (p.Lys1050Gln)
c.3097A>C (p.Lys1033Gln)
c.3145A>C (p.Lys1049Gln)
c.3190A>C (p.Lys1064Gln)
c.3055A>C (p.Lys1019Gln)
c.3187A>C (p.Lys1063Gln)
n.260A>C
c.3052A>C (p.Lys1018Gln)
n.3348A>C
2g.71570661A>GCA347217018DYSFc.520A>G (p.Lys174Glu)
c.3094A>G (p.Lys1032Glu)
c.3148A>G (p.Lys1050Glu)
c.3097A>G (p.Lys1033Glu)
c.3145A>G (p.Lys1049Glu)
c.3190A>G (p.Lys1064Glu)
c.3055A>G (p.Lys1019Glu)
c.3187A>G (p.Lys1063Glu)
n.260A>G
c.3052A>G (p.Lys1018Glu)
n.3348A>G
ClinVar dbSNP
2g.71570661A>TCA347217019DYSFc.520A>T (p.Lys174Ter)
c.3094A>T (p.Lys1032Ter)
c.3148A>T (p.Lys1050Ter)
c.3097A>T (p.Lys1033Ter)
c.3145A>T (p.Lys1049Ter)
c.3190A>T (p.Lys1064Ter)
c.3055A>T (p.Lys1019Ter)
c.3187A>T (p.Lys1063Ter)
n.260A>T
c.3052A>T (p.Lys1018Ter)
n.3348A>T
2g.71570662A=CA1260104105DYSFc.521A= (p.Lys174=)
c.3095A= (p.Lys1032=)
c.3149A= (p.Lys1050=)
c.3098A= (p.Lys1033=)
c.3146A= (p.Lys1049=)
c.3191A= (p.Lys1064=)
c.3056A= (p.Lys1019=)
c.3188A= (p.Lys1063=)
n.261A=
c.3053A= (p.Lys1018=)
n.3349A=
2g.71570662A>CCA347217020DYSFc.521A>C (p.Lys174Thr)
c.3095A>C (p.Lys1032Thr)
c.3149A>C (p.Lys1050Thr)
c.3098A>C (p.Lys1033Thr)
c.3146A>C (p.Lys1049Thr)
c.3191A>C (p.Lys1064Thr)
c.3056A>C (p.Lys1019Thr)
c.3188A>C (p.Lys1063Thr)
n.261A>C
c.3053A>C (p.Lys1018Thr)
n.3349A>C
gnomAD v4
2g.71570662A>GCA347217021DYSFc.521A>G (p.Lys174Arg)
c.3095A>G (p.Lys1032Arg)
c.3149A>G (p.Lys1050Arg)
c.3098A>G (p.Lys1033Arg)
c.3146A>G (p.Lys1049Arg)
c.3191A>G (p.Lys1064Arg)
c.3056A>G (p.Lys1019Arg)
c.3188A>G (p.Lys1063Arg)
n.261A>G
c.3053A>G (p.Lys1018Arg)
n.3349A>G
dbSNP gnomAD v2 gnomAD v4
2g.71570662A>TCA347217022DYSFc.521A>T (p.Lys174Met)
c.3095A>T (p.Lys1032Met)
c.3149A>T (p.Lys1050Met)
c.3098A>T (p.Lys1033Met)
c.3146A>T (p.Lys1049Met)
c.3191A>T (p.Lys1064Met)
c.3056A>T (p.Lys1019Met)
c.3188A>T (p.Lys1063Met)
n.261A>T
c.3053A>T (p.Lys1018Met)
n.3349A>T
ClinVar dbSNP
2g.71570663G>ACA1706442DYSFc.522G>A (p.Lys174=)
c.3096G>A (p.Lys1032=)
c.3150G>A (p.Lys1050=)
c.3099G>A (p.Lys1033=)
c.3147G>A (p.Lys1049=)
c.3192G>A (p.Lys1064=)
c.3057G>A (p.Lys1019=)
c.3189G>A (p.Lys1063=)
n.262G>A
c.3054G>A (p.Lys1018=)
n.3350G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570663G>CCA347217023DYSFc.522G>C (p.Lys174Asn)
c.3096G>C (p.Lys1032Asn)
c.3150G>C (p.Lys1050Asn)
c.3099G>C (p.Lys1033Asn)
c.3147G>C (p.Lys1049Asn)
c.3192G>C (p.Lys1064Asn)
c.3057G>C (p.Lys1019Asn)
c.3189G>C (p.Lys1063Asn)
n.262G>C
c.3054G>C (p.Lys1018Asn)
n.3350G>C
ClinVar gnomAD v4
2g.71570663G=CA1260104106DYSFc.522G= (p.Lys174=)
c.3096G= (p.Lys1032=)
c.3150G= (p.Lys1050=)
c.3099G= (p.Lys1033=)
c.3147G= (p.Lys1049=)
c.3192G= (p.Lys1064=)
c.3057G= (p.Lys1019=)
c.3189G= (p.Lys1063=)
n.262G=
c.3054G= (p.Lys1018=)
n.3350G=
2g.71570663G>TCA1706441DYSFc.522G>T (p.Lys174Asn)
c.3096G>T (p.Lys1032Asn)
c.3150G>T (p.Lys1050Asn)
c.3099G>T (p.Lys1033Asn)
c.3147G>T (p.Lys1049Asn)
c.3192G>T (p.Lys1064Asn)
c.3057G>T (p.Lys1019Asn)
c.3189G>T (p.Lys1063Asn)
n.262G>T
c.3054G>T (p.Lys1018Asn)
n.3350G>T
dbSNP ExAC gnomAD v2 gnomAD v4
2g.71570664A>CCA347217026DYSFc.523A>C (p.Met175Leu)
c.3097A>C (p.Met1033Leu)
c.3151A>C (p.Met1051Leu)
c.3100A>C (p.Met1034Leu)
c.3148A>C (p.Met1050Leu)
c.3193A>C (p.Met1065Leu)
c.3058A>C (p.Met1020Leu)
c.3190A>C (p.Met1064Leu)
n.263A>C
c.3055A>C (p.Met1019Leu)
n.3351A>C
2g.71570664A>GCA347217024DYSFc.523A>G (p.Met175Val)
c.3097A>G (p.Met1033Val)
c.3151A>G (p.Met1051Val)
c.3100A>G (p.Met1034Val)
c.3148A>G (p.Met1050Val)
c.3193A>G (p.Met1065Val)
c.3058A>G (p.Met1020Val)
c.3190A>G (p.Met1064Val)
n.263A>G
c.3055A>G (p.Met1019Val)
n.3351A>G
ClinVar
2g.71570664A>TCA347217025DYSFc.523A>T (p.Met175Leu)
c.3097A>T (p.Met1033Leu)
c.3151A>T (p.Met1051Leu)
c.3100A>T (p.Met1034Leu)
c.3148A>T (p.Met1050Leu)
c.3193A>T (p.Met1065Leu)
c.3058A>T (p.Met1020Leu)
c.3190A>T (p.Met1064Leu)
n.263A>T
c.3055A>T (p.Met1019Leu)
n.3351A>T
2g.71570665T>ACA347217027DYSFc.524T>A (p.Met175Lys)
c.3098T>A (p.Met1033Lys)
c.3152T>A (p.Met1051Lys)
c.3101T>A (p.Met1034Lys)
c.3149T>A (p.Met1050Lys)
c.3194T>A (p.Met1065Lys)
c.3059T>A (p.Met1020Lys)
c.3191T>A (p.Met1064Lys)
n.264T>A
c.3056T>A (p.Met1019Lys)
n.3352T>A
2g.71570665T>CCA347217028DYSFc.524T>C (p.Met175Thr)
c.3098T>C (p.Met1033Thr)
c.3152T>C (p.Met1051Thr)
c.3101T>C (p.Met1034Thr)
c.3149T>C (p.Met1050Thr)
c.3194T>C (p.Met1065Thr)
c.3059T>C (p.Met1020Thr)
c.3191T>C (p.Met1064Thr)
n.264T>C
c.3056T>C (p.Met1019Thr)
n.3352T>C
gnomAD v4
2g.71570665T>GCA347217029DYSFc.524T>G (p.Met175Arg)
c.3098T>G (p.Met1033Arg)
c.3152T>G (p.Met1051Arg)
c.3101T>G (p.Met1034Arg)
c.3149T>G (p.Met1050Arg)
c.3194T>G (p.Met1065Arg)
c.3059T>G (p.Met1020Arg)
c.3191T>G (p.Met1064Arg)
n.264T>G
c.3056T>G (p.Met1019Arg)
n.3352T>G
gnomAD v4
2g.71570666G>ACA347217030DYSFc.525G>A (p.Met175Ile)
c.3099G>A (p.Met1033Ile)
c.3153G>A (p.Met1051Ile)
c.3102G>A (p.Met1034Ile)
c.3150G>A (p.Met1050Ile)
c.3195G>A (p.Met1065Ile)
c.3060G>A (p.Met1020Ile)
c.3192G>A (p.Met1064Ile)
n.265G>A
c.3057G>A (p.Met1019Ile)
n.3353G>A
ClinVar dbSNP gnomAD v4
2g.71570666G>CCA347217031DYSFc.525G>C (p.Met175Ile)
c.3099G>C (p.Met1033Ile)
c.3153G>C (p.Met1051Ile)
c.3102G>C (p.Met1034Ile)
c.3150G>C (p.Met1050Ile)
c.3195G>C (p.Met1065Ile)
c.3060G>C (p.Met1020Ile)
c.3192G>C (p.Met1064Ile)
n.265G>C
c.3057G>C (p.Met1019Ile)
n.3353G>C
2g.71570666G=CA1260104107DYSFc.525G= (p.Met175=)
c.3099G= (p.Met1033=)
c.3153G= (p.Met1051=)
c.3102G= (p.Met1034=)
c.3150G= (p.Met1050=)
c.3195G= (p.Met1065=)
c.3060G= (p.Met1020=)
c.3192G= (p.Met1064=)
n.265G=
c.3057G= (p.Met1019=)
n.3353G=
2g.71570666G>TCA347217032DYSFc.525G>T (p.Met175Ile)
c.3099G>T (p.Met1033Ile)
c.3153G>T (p.Met1051Ile)
c.3102G>T (p.Met1034Ile)
c.3150G>T (p.Met1050Ile)
c.3195G>T (p.Met1065Ile)
c.3060G>T (p.Met1020Ile)
c.3192G>T (p.Met1064Ile)
n.265G>T
c.3057G>T (p.Met1019Ile)
n.3353G>T
2g.71570667T>ACA347217033DYSFc.526T>A (p.Tyr176Asn)
c.3100T>A (p.Tyr1034Asn)
c.3154T>A (p.Tyr1052Asn)
c.3103T>A (p.Tyr1035Asn)
c.3151T>A (p.Tyr1051Asn)
c.3196T>A (p.Tyr1066Asn)
c.3061T>A (p.Tyr1021Asn)
c.3193T>A (p.Tyr1065Asn)
n.266T>A
c.3058T>A (p.Tyr1020Asn)
n.3354T>A
COSMIC COSMIC
2g.71570667T>CCA347217034DYSFc.526T>C (p.Tyr176His)
c.3100T>C (p.Tyr1034His)
c.3154T>C (p.Tyr1052His)
c.3103T>C (p.Tyr1035His)
c.3151T>C (p.Tyr1051His)
c.3196T>C (p.Tyr1066His)
c.3061T>C (p.Tyr1021His)
c.3193T>C (p.Tyr1065His)
n.266T>C
c.3058T>C (p.Tyr1020His)
n.3354T>C
2g.71570667T>GCA347217035DYSFc.526T>G (p.Tyr176Asp)
c.3100T>G (p.Tyr1034Asp)
c.3154T>G (p.Tyr1052Asp)
c.3103T>G (p.Tyr1035Asp)
c.3151T>G (p.Tyr1051Asp)
c.3196T>G (p.Tyr1066Asp)
c.3061T>G (p.Tyr1021Asp)
c.3193T>G (p.Tyr1065Asp)
n.266T>G
c.3058T>G (p.Tyr1020Asp)
n.3354T>G
2g.71570668A=CA1260104108DYSFc.527A= (p.Tyr176=)
c.3101A= (p.Tyr1034=)
c.3155A= (p.Tyr1052=)
c.3104A= (p.Tyr1035=)
c.3152A= (p.Tyr1051=)
c.3197A= (p.Tyr1066=)
c.3062A= (p.Tyr1021=)
c.3194A= (p.Tyr1065=)
n.267A=
c.3059A= (p.Tyr1020=)
n.3355A=
2g.71570668A>CCA347217036DYSFc.527A>C (p.Tyr176Ser)
c.3101A>C (p.Tyr1034Ser)
c.3155A>C (p.Tyr1052Ser)
c.3104A>C (p.Tyr1035Ser)
c.3152A>C (p.Tyr1051Ser)
c.3197A>C (p.Tyr1066Ser)
c.3062A>C (p.Tyr1021Ser)
c.3194A>C (p.Tyr1065Ser)
n.267A>C
c.3059A>C (p.Tyr1020Ser)
n.3355A>C
2g.71570668A>GCA347217037DYSFc.527A>G (p.Tyr176Cys)
c.3101A>G (p.Tyr1034Cys)
c.3155A>G (p.Tyr1052Cys)
c.3104A>G (p.Tyr1035Cys)
c.3152A>G (p.Tyr1051Cys)
c.3197A>G (p.Tyr1066Cys)
c.3062A>G (p.Tyr1021Cys)
c.3194A>G (p.Tyr1065Cys)
n.267A>G
c.3059A>G (p.Tyr1020Cys)
n.3355A>G
ClinVar dbSNP gnomAD v4
2g.71570668A>TCA347217038DYSFc.527A>T (p.Tyr176Phe)
c.3101A>T (p.Tyr1034Phe)
c.3155A>T (p.Tyr1052Phe)
c.3104A>T (p.Tyr1035Phe)
c.3152A>T (p.Tyr1051Phe)
c.3197A>T (p.Tyr1066Phe)
c.3062A>T (p.Tyr1021Phe)
c.3194A>T (p.Tyr1065Phe)
n.267A>T
c.3059A>T (p.Tyr1020Phe)
n.3355A>T
2g.71570669C>ACA347217039DYSFc.528C>A (p.Tyr176Ter)
c.3102C>A (p.Tyr1034Ter)
c.3156C>A (p.Tyr1052Ter)
c.3105C>A (p.Tyr1035Ter)
c.3153C>A (p.Tyr1051Ter)
c.3198C>A (p.Tyr1066Ter)
c.3063C>A (p.Tyr1021Ter)
c.3195C>A (p.Tyr1065Ter)
n.268C>A
c.3060C>A (p.Tyr1020Ter)
n.3356C>A
2g.71570669C>GCA347217040DYSFc.528C>G (p.Tyr176Ter)
c.3102C>G (p.Tyr1034Ter)
c.3156C>G (p.Tyr1052Ter)
c.3105C>G (p.Tyr1035Ter)
c.3153C>G (p.Tyr1051Ter)
c.3198C>G (p.Tyr1066Ter)
c.3063C>G (p.Tyr1021Ter)
c.3195C>G (p.Tyr1065Ter)
n.268C>G
c.3060C>G (p.Tyr1020Ter)
n.3356C>G
2g.71570669C>TCA426702073DYSFc.528C>T (p.Tyr176=)
c.3102C>T (p.Tyr1034=)
c.3156C>T (p.Tyr1052=)
c.3105C>T (p.Tyr1035=)
c.3153C>T (p.Tyr1051=)
c.3198C>T (p.Tyr1066=)
c.3063C>T (p.Tyr1021=)
c.3195C>T (p.Tyr1065=)
n.268C>T
c.3060C>T (p.Tyr1020=)
n.3356C>T
2g.71570670T>ACA347217041DYSFc.529T>A (p.Tyr177Asn)
c.3103T>A (p.Tyr1035Asn)
c.3157T>A (p.Tyr1053Asn)
c.3106T>A (p.Tyr1036Asn)
c.3154T>A (p.Tyr1052Asn)
c.3199T>A (p.Tyr1067Asn)
c.3064T>A (p.Tyr1022Asn)
c.3196T>A (p.Tyr1066Asn)
n.269T>A
c.3061T>A (p.Tyr1021Asn)
n.3357T>A
2g.71570670T>CCA347217042DYSFc.529T>C (p.Tyr177His)
c.3103T>C (p.Tyr1035His)
c.3157T>C (p.Tyr1053His)
c.3106T>C (p.Tyr1036His)
c.3154T>C (p.Tyr1052His)
c.3199T>C (p.Tyr1067His)
c.3064T>C (p.Tyr1022His)
c.3196T>C (p.Tyr1066His)
n.269T>C
c.3061T>C (p.Tyr1021His)
n.3357T>C
2g.71570670T>GCA347217043DYSFc.529T>G (p.Tyr177Asp)
c.3103T>G (p.Tyr1035Asp)
c.3157T>G (p.Tyr1053Asp)
c.3106T>G (p.Tyr1036Asp)
c.3154T>G (p.Tyr1052Asp)
c.3199T>G (p.Tyr1067Asp)
c.3064T>G (p.Tyr1022Asp)
c.3196T>G (p.Tyr1066Asp)
n.269T>G
c.3061T>G (p.Tyr1021Asp)
n.3357T>G
2g.71570670_71570671delCA2695200816DYSFc.529_530del (p.Tyr177HisfsTer?)
c.3103_3104del (p.Tyr1035HisfsTer?)
c.3157_3158del (p.Tyr1053HisfsTer?)
c.3106_3107del (p.Tyr1036HisfsTer?)
c.3154_3155del (p.Tyr1052HisfsTer?)
c.3199_3200del (p.Tyr1067HisfsTer?)
c.3064_3065del (p.Tyr1022HisfsTer?)
c.3196_3197del (p.Tyr1066HisfsTer?)
n.269_270del
c.3061_3062del (p.Tyr1021HisfsTer?)
n.3357_3358del
ClinVar
2g.71570670_71570671delinsAGATCGCA2573105966DYSFc.529_530delinsAGATCG (p.Tyr177ArgfsTer?)
c.3103_3104delinsAGATCG (p.Tyr1035ArgfsTer?)
c.3157_3158delinsAGATCG (p.Tyr1053ArgfsTer?)
c.3106_3107delinsAGATCG (p.Tyr1036ArgfsTer?)
c.3154_3155delinsAGATCG (p.Tyr1052ArgfsTer?)
c.3199_3200delinsAGATCG (p.Tyr1067ArgfsTer?)
c.3064_3065delinsAGATCG (p.Tyr1022ArgfsTer?)
c.3196_3197delinsAGATCG (p.Tyr1066ArgfsTer?)
n.269_270delinsAGATCG
c.3061_3062delinsAGATCG (p.Tyr1021ArgfsTer?)
n.3357_3358delinsAGATCG
2g.71570671A>CCA347217044DYSFc.530A>C (p.Tyr177Ser)
c.3104A>C (p.Tyr1035Ser)
c.3158A>C (p.Tyr1053Ser)
c.3107A>C (p.Tyr1036Ser)
c.3155A>C (p.Tyr1052Ser)
c.3200A>C (p.Tyr1067Ser)
c.3065A>C (p.Tyr1022Ser)
c.3197A>C (p.Tyr1066Ser)
n.270A>C
c.3062A>C (p.Tyr1021Ser)
n.3358A>C
2g.71570671A>GCA347217045DYSFc.530A>G (p.Tyr177Cys)
c.3104A>G (p.Tyr1035Cys)
c.3158A>G (p.Tyr1053Cys)
c.3107A>G (p.Tyr1036Cys)
c.3155A>G (p.Tyr1052Cys)
c.3200A>G (p.Tyr1067Cys)
c.3065A>G (p.Tyr1022Cys)
c.3197A>G (p.Tyr1066Cys)
n.270A>G
c.3062A>G (p.Tyr1021Cys)
n.3358A>G
gnomAD v4
2g.71570671A>TCA347217046DYSFc.530A>T (p.Tyr177Phe)
c.3104A>T (p.Tyr1035Phe)
c.3158A>T (p.Tyr1053Phe)
c.3107A>T (p.Tyr1036Phe)
c.3155A>T (p.Tyr1052Phe)
c.3200A>T (p.Tyr1067Phe)
c.3065A>T (p.Tyr1022Phe)
c.3197A>T (p.Tyr1066Phe)
n.270A>T
c.3062A>T (p.Tyr1021Phe)
n.3358A>T
2g.71570677_71570678delCA2831039077DYSFc.536_537del (p.His179ProfsTer?)
c.3110_3111del (p.His1037ProfsTer?)
c.3164_3165del (p.His1055ProfsTer?)
c.3113_3114del (p.His1038ProfsTer?)
c.3161_3162del (p.His1054ProfsTer?)
c.3206_3207del (p.His1069ProfsTer?)
c.3071_3072del (p.His1024ProfsTer?)
c.3203_3204del (p.His1068ProfsTer?)
n.276_277del
c.3068_3069del (p.His1023ProfsTer?)
n.3364_3365del
2g.71570672C>ACA347217047DYSFc.531C>A (p.Tyr177Ter)
c.3105C>A (p.Tyr1035Ter)
c.3159C>A (p.Tyr1053Ter)
c.3108C>A (p.Tyr1036Ter)
c.3156C>A (p.Tyr1052Ter)
c.3201C>A (p.Tyr1067Ter)
c.3066C>A (p.Tyr1022Ter)
c.3198C>A (p.Tyr1066Ter)
n.271C>A
c.3063C>A (p.Tyr1021Ter)
n.3359C>A
ClinVar
2g.71570672C=CA1260104109DYSFc.531C= (p.Tyr177=)
c.3105C= (p.Tyr1035=)
c.3159C= (p.Tyr1053=)
c.3108C= (p.Tyr1036=)
c.3156C= (p.Tyr1052=)
c.3201C= (p.Tyr1067=)
c.3066C= (p.Tyr1022=)
c.3198C= (p.Tyr1066=)
n.271C=
c.3063C= (p.Tyr1021=)
n.3359C=
2g.71570672C>GCA347217048DYSFc.531C>G (p.Tyr177Ter)
c.3105C>G (p.Tyr1035Ter)
c.3159C>G (p.Tyr1053Ter)
c.3108C>G (p.Tyr1036Ter)
c.3156C>G (p.Tyr1052Ter)
c.3201C>G (p.Tyr1067Ter)
c.3066C>G (p.Tyr1022Ter)
c.3198C>G (p.Tyr1066Ter)
n.271C>G
c.3063C>G (p.Tyr1021Ter)
n.3359C>G
2g.71570672C>TCA426702074DYSFc.531C>T (p.Tyr177=)
c.3105C>T (p.Tyr1035=)
c.3159C>T (p.Tyr1053=)
c.3108C>T (p.Tyr1036=)
c.3156C>T (p.Tyr1052=)
c.3201C>T (p.Tyr1067=)
c.3066C>T (p.Tyr1022=)
c.3198C>T (p.Tyr1066=)
n.271C>T
c.3063C>T (p.Tyr1021=)
n.3359C>T
dbSNP gnomAD v3 gnomAD v4
2g.71570673A=CA1260104110DYSFc.532A= (p.Thr178=)
c.3106A= (p.Thr1036=)
c.3160A= (p.Thr1054=)
c.3109A= (p.Thr1037=)
c.3157A= (p.Thr1053=)
c.3202A= (p.Thr1068=)
c.3067A= (p.Thr1023=)
c.3199A= (p.Thr1067=)
n.272A=
c.3064A= (p.Thr1022=)
n.3360A=
2g.71570673A>CCA347217049DYSFc.532A>C (p.Thr178Pro)
c.3106A>C (p.Thr1036Pro)
c.3160A>C (p.Thr1054Pro)
c.3109A>C (p.Thr1037Pro)
c.3157A>C (p.Thr1053Pro)
c.3202A>C (p.Thr1068Pro)
c.3067A>C (p.Thr1023Pro)
c.3199A>C (p.Thr1067Pro)
n.272A>C
c.3064A>C (p.Thr1022Pro)
n.3360A>C
2g.71570673A>GCA1706443DYSFc.532A>G (p.Thr178Ala)
c.3106A>G (p.Thr1036Ala)
c.3160A>G (p.Thr1054Ala)
c.3109A>G (p.Thr1037Ala)
c.3157A>G (p.Thr1053Ala)
c.3202A>G (p.Thr1068Ala)
c.3067A>G (p.Thr1023Ala)
c.3199A>G (p.Thr1067Ala)
n.272A>G
c.3064A>G (p.Thr1022Ala)
n.3360A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570673A>TCA347217050DYSFc.532A>T (p.Thr178Ser)
c.3106A>T (p.Thr1036Ser)
c.3160A>T (p.Thr1054Ser)
c.3109A>T (p.Thr1037Ser)
c.3157A>T (p.Thr1053Ser)
c.3202A>T (p.Thr1068Ser)
c.3067A>T (p.Thr1023Ser)
c.3199A>T (p.Thr1067Ser)
n.272A>T
c.3064A>T (p.Thr1022Ser)
n.3360A>T
2g.71570674C>ACA347217051DYSFc.533C>A (p.Thr178Lys)
c.3107C>A (p.Thr1036Lys)
c.3161C>A (p.Thr1054Lys)
c.3110C>A (p.Thr1037Lys)
c.3158C>A (p.Thr1053Lys)
c.3203C>A (p.Thr1068Lys)
c.3068C>A (p.Thr1023Lys)
c.3200C>A (p.Thr1067Lys)
n.273C>A
c.3065C>A (p.Thr1022Lys)
n.3361C>A
2g.71570674C=CA1260104111DYSFc.533C= (p.Thr178=)
c.3107C= (p.Thr1036=)
c.3161C= (p.Thr1054=)
c.3110C= (p.Thr1037=)
c.3158C= (p.Thr1053=)
c.3203C= (p.Thr1068=)
c.3068C= (p.Thr1023=)
c.3200C= (p.Thr1067=)
n.273C=
c.3065C= (p.Thr1022=)
n.3361C=
2g.71570674C>GCA49746708DYSFc.533C>G (p.Thr178Arg)
c.3107C>G (p.Thr1036Arg)
c.3161C>G (p.Thr1054Arg)
c.3110C>G (p.Thr1037Arg)
c.3158C>G (p.Thr1053Arg)
c.3203C>G (p.Thr1068Arg)
c.3068C>G (p.Thr1023Arg)
c.3200C>G (p.Thr1067Arg)
n.273C>G
c.3065C>G (p.Thr1022Arg)
n.3361C>G
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71570674C>TCA1706444DYSFc.533C>T (p.Thr178Ile)
c.3107C>T (p.Thr1036Ile)
c.3161C>T (p.Thr1054Ile)
c.3110C>T (p.Thr1037Ile)
c.3158C>T (p.Thr1053Ile)
c.3203C>T (p.Thr1068Ile)
c.3068C>T (p.Thr1023Ile)
c.3200C>T (p.Thr1067Ile)
n.273C>T
c.3065C>T (p.Thr1022Ile)
n.3361C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570674_71570680delinsCACACCGCA1260104112DYSFc.533_539delinsCACACCG (p.Thr178=)
c.3107_3113delinsCACACCG (p.Thr1036=)
c.3161_3167delinsCACACCG (p.Thr1054=)
c.3110_3116delinsCACACCG (p.Thr1037=)
c.3158_3164delinsCACACCG (p.Thr1053=)
c.3203_3209delinsCACACCG (p.Thr1068=)
c.3068_3074delinsCACACCG (p.Thr1023=)
c.3200_3206delinsCACACCG (p.Thr1067=)
n.273_279delinsCACACCG
c.3065_3071delinsCACACCG (p.Thr1022=)
n.3361_3367delinsCACACCG
2g.71570675A=CA1260104113DYSFc.534A= (p.Thr178=)
c.3108A= (p.Thr1036=)
c.3162A= (p.Thr1054=)
c.3111A= (p.Thr1037=)
c.3159A= (p.Thr1053=)
c.3204A= (p.Thr1068=)
c.3069A= (p.Thr1023=)
c.3201A= (p.Thr1067=)
n.274A=
c.3066A= (p.Thr1022=)
n.3362A=
2g.71570675A>CCA426702075DYSFc.534A>C (p.Thr178=)
c.3108A>C (p.Thr1036=)
c.3162A>C (p.Thr1054=)
c.3111A>C (p.Thr1037=)
c.3159A>C (p.Thr1053=)
c.3204A>C (p.Thr1068=)
c.3069A>C (p.Thr1023=)
c.3201A>C (p.Thr1067=)
n.274A>C
c.3066A>C (p.Thr1022=)
n.3362A>C
ClinVar
2g.71570675A>GCA426702076DYSFc.534A>G (p.Thr178=)
c.3108A>G (p.Thr1036=)
c.3162A>G (p.Thr1054=)
c.3111A>G (p.Thr1037=)
c.3159A>G (p.Thr1053=)
c.3204A>G (p.Thr1068=)
c.3069A>G (p.Thr1023=)
c.3201A>G (p.Thr1067=)
n.274A>G
c.3066A>G (p.Thr1022=)
n.3362A>G
dbSNP gnomAD v2 gnomAD v4
2g.71570675A>TCA426702077DYSFc.534A>T (p.Thr178=)
c.3108A>T (p.Thr1036=)
c.3162A>T (p.Thr1054=)
c.3111A>T (p.Thr1037=)
c.3159A>T (p.Thr1053=)
c.3204A>T (p.Thr1068=)
c.3069A>T (p.Thr1023=)
c.3201A>T (p.Thr1067=)
n.274A>T
c.3066A>T (p.Thr1022=)
n.3362A>T
dbSNP gnomAD v3 gnomAD v4
2g.71570677_71570682delCA913189538DYSFc.536_541del (p.His179_Arg180del)
c.3110_3115del (p.His1037_Arg1038del)
c.3164_3169del (p.His1055_Arg1056del)
c.3113_3118del (p.His1038_Arg1039del)
c.3161_3166del (p.His1054_Arg1055del)
c.3206_3211del (p.His1069_Arg1070del)
c.3071_3076del (p.His1024_Arg1025del)
c.3203_3208del (p.His1068_Arg1069del)
n.276_281del
c.3068_3073del (p.His1023_Arg1024del)
n.3364_3369del
ClinVar dbSNP
2g.71570676C>ACA347217052DYSFc.535C>A (p.His179Asn)
c.3109C>A (p.His1037Asn)
c.3163C>A (p.His1055Asn)
c.3112C>A (p.His1038Asn)
c.3160C>A (p.His1054Asn)
c.3205C>A (p.His1069Asn)
c.3070C>A (p.His1024Asn)
c.3202C>A (p.His1068Asn)
n.275C>A
c.3067C>A (p.His1023Asn)
n.3363C>A
2g.71570676C=CA1260104114DYSFc.535C= (p.His179=)
c.3109C= (p.His1037=)
c.3163C= (p.His1055=)
c.3112C= (p.His1038=)
c.3160C= (p.His1054=)
c.3205C= (p.His1069=)
c.3070C= (p.His1024=)
c.3202C= (p.His1068=)
n.275C=
c.3067C= (p.His1023=)
n.3363C=
2g.71570676C>GCA347217053DYSFc.535C>G (p.His179Asp)
c.3109C>G (p.His1037Asp)
c.3163C>G (p.His1055Asp)
c.3112C>G (p.His1038Asp)
c.3160C>G (p.His1054Asp)
c.3205C>G (p.His1069Asp)
c.3070C>G (p.His1024Asp)
c.3202C>G (p.His1068Asp)
n.275C>G
c.3067C>G (p.His1023Asp)
n.3363C>G
2g.71570676C>TCA1706445DYSFc.535C>T (p.His179Tyr)
c.3109C>T (p.His1037Tyr)
c.3163C>T (p.His1055Tyr)
c.3112C>T (p.His1038Tyr)
c.3160C>T (p.His1054Tyr)
c.3205C>T (p.His1069Tyr)
c.3070C>T (p.His1024Tyr)
c.3202C>T (p.His1068Tyr)
n.275C>T
c.3067C>T (p.His1023Tyr)
n.3363C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71570677A>CCA347217054DYSFc.536A>C (p.His179Pro)
c.3110A>C (p.His1037Pro)
c.3164A>C (p.His1055Pro)
c.3113A>C (p.His1038Pro)
c.3161A>C (p.His1054Pro)
c.3206A>C (p.His1069Pro)
c.3071A>C (p.His1024Pro)
c.3203A>C (p.His1068Pro)
n.276A>C
c.3068A>C (p.His1023Pro)
n.3364A>C
2g.71570677A>GCA347217055DYSFc.536A>G (p.His179Arg)
c.3110A>G (p.His1037Arg)
c.3164A>G (p.His1055Arg)
c.3113A>G (p.His1038Arg)
c.3161A>G (p.His1054Arg)
c.3206A>G (p.His1069Arg)
c.3071A>G (p.His1024Arg)
c.3203A>G (p.His1068Arg)
n.276A>G
c.3068A>G (p.His1023Arg)
n.3364A>G
2g.71570677A>TCA347217056DYSFc.536A>T (p.His179Leu)
c.3110A>T (p.His1037Leu)
c.3164A>T (p.His1055Leu)
c.3113A>T (p.His1038Leu)
c.3161A>T (p.His1054Leu)
c.3206A>T (p.His1069Leu)
c.3071A>T (p.His1024Leu)
c.3203A>T (p.His1068Leu)
n.276A>T
c.3068A>T (p.His1023Leu)
n.3364A>T
2g.71570678C>ACA49746710DYSFc.537C>A (p.His179Gln)
c.3111C>A (p.His1037Gln)
c.3165C>A (p.His1055Gln)
c.3114C>A (p.His1038Gln)
c.3162C>A (p.His1054Gln)
c.3207C>A (p.His1069Gln)
c.3072C>A (p.His1024Gln)
c.3204C>A (p.His1068Gln)
n.277C>A
c.3069C>A (p.His1023Gln)
n.3365C>A
dbSNP gnomAD v4
2g.71570678C=CA1260104115DYSFc.537C= (p.His179=)
c.3111C= (p.His1037=)
c.3165C= (p.His1055=)
c.3114C= (p.His1038=)
c.3162C= (p.His1054=)
c.3207C= (p.His1069=)
c.3072C= (p.His1024=)
c.3204C= (p.His1068=)
n.277C=
c.3069C= (p.His1023=)
n.3365C=
2g.71570678C>GCA1706446DYSFc.537C>G (p.His179Gln)
c.3111C>G (p.His1037Gln)
c.3165C>G (p.His1055Gln)
c.3114C>G (p.His1038Gln)
c.3162C>G (p.His1054Gln)
c.3207C>G (p.His1069Gln)
c.3072C>G (p.His1024Gln)
c.3204C>G (p.His1068Gln)
n.277C>G
c.3069C>G (p.His1023Gln)
n.3365C>G
dbSNP ExAC gnomAD v4
2g.71570678C>TCA426702078DYSFc.537C>T (p.His179=)
c.3111C>T (p.His1037=)
c.3165C>T (p.His1055=)
c.3114C>T (p.His1038=)
c.3162C>T (p.His1054=)
c.3207C>T (p.His1069=)
c.3072C>T (p.His1024=)
c.3204C>T (p.His1068=)
n.277C>T
c.3069C>T (p.His1023=)
n.3365C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71570679C>ACA1706447DYSFc.538C>A (p.Arg180=)
c.3112C>A (p.Arg1038=)
c.3166C>A (p.Arg1056=)
c.3115C>A (p.Arg1039=)
c.3163C>A (p.Arg1055=)
c.3208C>A (p.Arg1070=)
c.3073C>A (p.Arg1025=)
c.3205C>A (p.Arg1069=)
n.278C>A
c.3070C>A (p.Arg1024=)
n.3366C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570679C=CA1260104116DYSFc.538C= (p.Arg180=)
c.3112C= (p.Arg1038=)
c.3166C= (p.Arg1056=)
c.3115C= (p.Arg1039=)
c.3163C= (p.Arg1055=)
c.3208C= (p.Arg1070=)
c.3073C= (p.Arg1025=)
c.3205C= (p.Arg1069=)
n.278C=
c.3070C= (p.Arg1024=)
n.3366C=
2g.71570679C>GCA347217057DYSFc.538C>G (p.Arg180Gly)
c.3112C>G (p.Arg1038Gly)
c.3166C>G (p.Arg1056Gly)
c.3115C>G (p.Arg1039Gly)
c.3163C>G (p.Arg1055Gly)
c.3208C>G (p.Arg1070Gly)
c.3073C>G (p.Arg1025Gly)
c.3205C>G (p.Arg1069Gly)
n.278C>G
c.3070C>G (p.Arg1024Gly)
n.3366C>G
2g.71570679C>TCA277609DYSFc.538C>T (p.Arg180Ter)
c.3112C>T (p.Arg1038Ter)
c.3166C>T (p.Arg1056Ter)
c.3115C>T (p.Arg1039Ter)
c.3163C>T (p.Arg1055Ter)
c.3208C>T (p.Arg1070Ter)
c.3073C>T (p.Arg1025Ter)
c.3205C>T (p.Arg1069Ter)
n.278C>T
c.3070C>T (p.Arg1024Ter)
n.3366C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71570680G>ACA1706448DYSFc.539G>A (p.Arg180Gln)
c.3113G>A (p.Arg1038Gln)
c.3167G>A (p.Arg1056Gln)
c.3116G>A (p.Arg1039Gln)
c.3164G>A (p.Arg1055Gln)
c.3209G>A (p.Arg1070Gln)
c.3074G>A (p.Arg1025Gln)
c.3206G>A (p.Arg1069Gln)
n.279G>A
c.3071G>A (p.Arg1024Gln)
n.3367G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71570680G>CCA347217058DYSFc.539G>C (p.Arg180Pro)
c.3113G>C (p.Arg1038Pro)
c.3167G>C (p.Arg1056Pro)
c.3116G>C (p.Arg1039Pro)
c.3164G>C (p.Arg1055Pro)
c.3209G>C (p.Arg1070Pro)
c.3074G>C (p.Arg1025Pro)
c.3206G>C (p.Arg1069Pro)
n.279G>C
c.3071G>C (p.Arg1024Pro)
n.3367G>C
ClinVar dbSNP gnomAD v4
2g.71570680G=CA1260104117DYSFc.539G= (p.Arg180=)
c.3113G= (p.Arg1038=)
c.3167G= (p.Arg1056=)
c.3116G= (p.Arg1039=)
c.3164G= (p.Arg1055=)
c.3209G= (p.Arg1070=)
c.3074G= (p.Arg1025=)
c.3206G= (p.Arg1069=)
n.279G=
c.3071G= (p.Arg1024=)
n.3367G=
2g.71570680G>TCA347217059DYSFc.539G>T (p.Arg180Leu)
c.3113G>T (p.Arg1038Leu)
c.3167G>T (p.Arg1056Leu)
c.3116G>T (p.Arg1039Leu)
c.3164G>T (p.Arg1055Leu)
c.3209G>T (p.Arg1070Leu)
c.3074G>T (p.Arg1025Leu)
c.3206G>T (p.Arg1069Leu)
n.279G>T
c.3071G>T (p.Arg1024Leu)
n.3367G>T
2g.71570681A=CA1260104118DYSFc.540A= (p.Arg180=)
c.3114A= (p.Arg1038=)
c.3168A= (p.Arg1056=)
c.3117A= (p.Arg1039=)
c.3165A= (p.Arg1055=)
c.3210A= (p.Arg1070=)
c.3075A= (p.Arg1025=)
c.3207A= (p.Arg1069=)
n.280A=
c.3072A= (p.Arg1024=)
n.3368A=
2g.71570681A>CCA426702079DYSFc.540A>C (p.Arg180=)
c.3114A>C (p.Arg1038=)
c.3168A>C (p.Arg1056=)
c.3117A>C (p.Arg1039=)
c.3165A>C (p.Arg1055=)
c.3210A>C (p.Arg1070=)
c.3075A>C (p.Arg1025=)
c.3207A>C (p.Arg1069=)
n.280A>C
c.3072A>C (p.Arg1024=)
n.3368A>C
gnomAD v4
2g.71570681A>GCA1706449DYSFc.540A>G (p.Arg180=)
c.3114A>G (p.Arg1038=)
c.3168A>G (p.Arg1056=)
c.3117A>G (p.Arg1039=)
c.3165A>G (p.Arg1055=)
c.3210A>G (p.Arg1070=)
c.3075A>G (p.Arg1025=)
c.3207A>G (p.Arg1069=)
n.280A>G
c.3072A>G (p.Arg1024=)
n.3368A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71570681A>TCA426702080DYSFc.540A>T (p.Arg180=)
c.3114A>T (p.Arg1038=)
c.3168A>T (p.Arg1056=)
c.3117A>T (p.Arg1039=)
c.3165A>T (p.Arg1055=)
c.3210A>T (p.Arg1070=)
c.3075A>T (p.Arg1025=)
c.3207A>T (p.Arg1069=)
n.280A>T
c.3072A>T (p.Arg1024=)
n.3368A>T
2g.71570682C>ACA426702081DYSFc.541C>A (p.Arg181=)
c.3115C>A (p.Arg1039=)
c.3169C>A (p.Arg1057=)
c.3118C>A (p.Arg1040=)
c.3166C>A (p.Arg1056=)
c.3211C>A (p.Arg1071=)
c.3076C>A (p.Arg1026=)
c.3208C>A (p.Arg1070=)
n.281C>A
c.3073C>A (p.Arg1025=)
n.3369C>A
2g.71570682C=CA1260104119DYSFc.541C= (p.Arg181=)
c.3115C= (p.Arg1039=)
c.3169C= (p.Arg1057=)
c.3118C= (p.Arg1040=)
c.3166C= (p.Arg1056=)
c.3211C= (p.Arg1071=)
c.3076C= (p.Arg1026=)
c.3208C= (p.Arg1070=)
n.281C=
c.3073C= (p.Arg1025=)
n.3369C=
2g.71570682C>GCA347217060DYSFc.541C>G (p.Arg181Gly)
c.3115C>G (p.Arg1039Gly)
c.3169C>G (p.Arg1057Gly)
c.3118C>G (p.Arg1040Gly)
c.3166C>G (p.Arg1056Gly)
c.3211C>G (p.Arg1071Gly)
c.3076C>G (p.Arg1026Gly)
c.3208C>G (p.Arg1070Gly)
n.281C>G
c.3073C>G (p.Arg1025Gly)
n.3369C>G
2g.71570682C>TCA1706450DYSFc.541C>T (p.Arg181Trp)
c.3115C>T (p.Arg1039Trp)
c.3169C>T (p.Arg1057Trp)
c.3118C>T (p.Arg1040Trp)
c.3166C>T (p.Arg1056Trp)
c.3211C>T (p.Arg1071Trp)
c.3076C>T (p.Arg1026Trp)
c.3208C>T (p.Arg1070Trp)
n.281C>T
c.3073C>T (p.Arg1025Trp)
n.3369C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570682_71570685dupCA2586969480DYSFc.541_544dup (p.Arg182ProfsTer?)
c.3115_3118dup (p.Arg1040ProfsTer?)
c.3169_3172dup (p.Arg1058ProfsTer?)
c.3118_3121dup (p.Arg1041ProfsTer?)
c.3166_3169dup (p.Arg1057ProfsTer?)
c.3211_3214dup (p.Arg1072ProfsTer?)
c.3076_3079dup (p.Arg1027ProfsTer?)
c.3208_3211dup (p.Arg1071ProfsTer?)
n.281_284dup
c.3073_3076dup (p.Arg1026ProfsTer?)
n.3369_3372dup
2g.71570683G>ACA1706451DYSFc.542G>A (p.Arg181Gln)
c.3116G>A (p.Arg1039Gln)
c.3170G>A (p.Arg1057Gln)
c.3119G>A (p.Arg1040Gln)
c.3167G>A (p.Arg1056Gln)
c.3212G>A (p.Arg1071Gln)
c.3077G>A (p.Arg1026Gln)
c.3209G>A (p.Arg1070Gln)
n.282G>A
c.3074G>A (p.Arg1025Gln)
n.3370G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570683G>CCA347217061DYSFc.542G>C (p.Arg181Pro)
c.3116G>C (p.Arg1039Pro)
c.3170G>C (p.Arg1057Pro)
c.3119G>C (p.Arg1040Pro)
c.3167G>C (p.Arg1056Pro)
c.3212G>C (p.Arg1071Pro)
c.3077G>C (p.Arg1026Pro)
c.3209G>C (p.Arg1070Pro)
n.282G>C
c.3074G>C (p.Arg1025Pro)
n.3370G>C
2g.71570683G=CA1260104120DYSFc.542G= (p.Arg181=)
c.3116G= (p.Arg1039=)
c.3170G= (p.Arg1057=)
c.3119G= (p.Arg1040=)
c.3167G= (p.Arg1056=)
c.3212G= (p.Arg1071=)
c.3077G= (p.Arg1026=)
c.3209G= (p.Arg1070=)
n.282G=
c.3074G= (p.Arg1025=)
n.3370G=
2g.71570683G>TCA347217062DYSFc.542G>T (p.Arg181Leu)
c.3116G>T (p.Arg1039Leu)
c.3170G>T (p.Arg1057Leu)
c.3119G>T (p.Arg1040Leu)
c.3167G>T (p.Arg1056Leu)
c.3212G>T (p.Arg1071Leu)
c.3077G>T (p.Arg1026Leu)
c.3209G>T (p.Arg1070Leu)
n.282G>T
c.3074G>T (p.Arg1025Leu)
n.3370G>T
ClinVar
2g.71570684G>ACA1706452DYSFc.543G>A (p.Arg181=)
c.3117G>A (p.Arg1039=)
c.3171G>A (p.Arg1057=)
c.3120G>A (p.Arg1040=)
c.3168G>A (p.Arg1056=)
c.3213G>A (p.Arg1071=)
c.3078G>A (p.Arg1026=)
c.3210G>A (p.Arg1070=)
n.283G>A
c.3075G>A (p.Arg1025=)
n.3371G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570684G>CCA426702082DYSFc.543G>C (p.Arg181=)
c.3117G>C (p.Arg1039=)
c.3171G>C (p.Arg1057=)
c.3120G>C (p.Arg1040=)
c.3168G>C (p.Arg1056=)
c.3213G>C (p.Arg1071=)
c.3078G>C (p.Arg1026=)
c.3210G>C (p.Arg1070=)
n.283G>C
c.3075G>C (p.Arg1025=)
n.3371G>C
2g.71570684G=CA1260104121DYSFc.543G= (p.Arg181=)
c.3117G= (p.Arg1039=)
c.3171G= (p.Arg1057=)
c.3120G= (p.Arg1040=)
c.3168G= (p.Arg1056=)
c.3213G= (p.Arg1071=)
c.3078G= (p.Arg1026=)
c.3210G= (p.Arg1070=)
n.283G=
c.3075G= (p.Arg1025=)
n.3371G=
2g.71570684G>TCA426702083DYSFc.543G>T (p.Arg181=)
c.3117G>T (p.Arg1039=)
c.3171G>T (p.Arg1057=)
c.3120G>T (p.Arg1040=)
c.3168G>T (p.Arg1056=)
c.3213G>T (p.Arg1071=)
c.3078G>T (p.Arg1026=)
c.3210G>T (p.Arg1070=)
n.283G>T
c.3075G>T (p.Arg1025=)
n.3371G>T
2g.71570686_71570690delCA2582342406DYSFc.545_549del (p.Arg182LeufsTer?)
c.3119_3123del (p.Arg1040LeufsTer?)
c.3173_3177del (p.Arg1058LeufsTer?)
c.3122_3126del (p.Arg1041LeufsTer?)
c.3170_3174del (p.Arg1057LeufsTer?)
c.3215_3219del (p.Arg1072LeufsTer?)
c.3080_3084del (p.Arg1027LeufsTer?)
c.3212_3216del (p.Arg1071LeufsTer?)
n.285_289del
c.3077_3081del (p.Arg1026LeufsTer?)
n.3373_3377del
ClinVar gnomAD v4
2g.71570687_71570704delCA2659549635DYSFc.546_563del (p.Arg183_Arg188del)
c.3120_3137del (p.Arg1041_Arg1046del)
c.3174_3191del (p.Arg1059_Arg1064del)
c.3123_3140del (p.Arg1042_Arg1047del)
c.3171_3188del (p.Arg1058_Arg1063del)
c.3216_3233del (p.Arg1073_Arg1078del)
c.3081_3098del (p.Arg1028_Arg1033del)
c.3213_3230del (p.Arg1072_Arg1077del)
n.286_303del
c.3078_3095del (p.Arg1027_Arg1032del)
n.3374_3391del
gnomAD v4
2g.71570685delCA2659549636DYSFc.544del (p.Arg182GlyfsTer17)
c.3118del (p.Arg1040GlyfsTer17)
c.3172del (p.Arg1058GlyfsTer17)
c.3121del (p.Arg1041GlyfsTer17)
c.3169del (p.Arg1057GlyfsTer17)
c.3214del (p.Arg1072GlyfsTer17)
c.3079del (p.Arg1027GlyfsTer17)
c.3211del (p.Arg1071GlyfsTer17)
n.284del
c.3076del (p.Arg1026GlyfsTer17)
n.3372del
gnomAD v4
2g.71570685C>ACA426702084DYSFc.544C>A (p.Arg182=)
c.3118C>A (p.Arg1040=)
c.3172C>A (p.Arg1058=)
c.3121C>A (p.Arg1041=)
c.3169C>A (p.Arg1057=)
c.3214C>A (p.Arg1072=)
c.3079C>A (p.Arg1027=)
c.3211C>A (p.Arg1071=)
n.284C>A
c.3076C>A (p.Arg1026=)
n.3372C>A
COSMIC
2g.71570685C=CA1260104122DYSFc.544C= (p.Arg182=)
c.3118C= (p.Arg1040=)
c.3172C= (p.Arg1058=)
c.3121C= (p.Arg1041=)
c.3169C= (p.Arg1057=)
c.3214C= (p.Arg1072=)
c.3079C= (p.Arg1027=)
c.3211C= (p.Arg1071=)
n.284C=
c.3076C= (p.Arg1026=)
n.3372C=
2g.71570685C>GCA347217063DYSFc.544C>G (p.Arg182Gly)
c.3118C>G (p.Arg1040Gly)
c.3172C>G (p.Arg1058Gly)
c.3121C>G (p.Arg1041Gly)
c.3169C>G (p.Arg1057Gly)
c.3214C>G (p.Arg1072Gly)
c.3079C>G (p.Arg1027Gly)
c.3211C>G (p.Arg1071Gly)
n.284C>G
c.3076C>G (p.Arg1026Gly)
n.3372C>G
2g.71570685C>TCA347217064DYSFc.544C>T (p.Arg182Trp)
c.3118C>T (p.Arg1040Trp)
c.3172C>T (p.Arg1058Trp)
c.3121C>T (p.Arg1041Trp)
c.3169C>T (p.Arg1057Trp)
c.3214C>T (p.Arg1072Trp)
c.3079C>T (p.Arg1027Trp)
c.3211C>T (p.Arg1071Trp)
n.284C>T
c.3076C>T (p.Arg1026Trp)
n.3372C>T
ClinVar dbSNP gnomAD v4
2g.71570686G>ACA1706453DYSFc.545G>A (p.Arg182Gln)
c.3119G>A (p.Arg1040Gln)
c.3173G>A (p.Arg1058Gln)
c.3122G>A (p.Arg1041Gln)
c.3170G>A (p.Arg1057Gln)
c.3215G>A (p.Arg1072Gln)
c.3080G>A (p.Arg1027Gln)
c.3212G>A (p.Arg1071Gln)
n.285G>A
c.3077G>A (p.Arg1026Gln)
n.3373G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570686G>CCA347217065DYSFc.545G>C (p.Arg182Pro)
c.3119G>C (p.Arg1040Pro)
c.3173G>C (p.Arg1058Pro)
c.3122G>C (p.Arg1041Pro)
c.3170G>C (p.Arg1057Pro)
c.3215G>C (p.Arg1072Pro)
c.3080G>C (p.Arg1027Pro)
c.3212G>C (p.Arg1071Pro)
n.285G>C
c.3077G>C (p.Arg1026Pro)
n.3373G>C
2g.71570686G=CA1260104123DYSFc.545G= (p.Arg182=)
c.3119G= (p.Arg1040=)
c.3173G= (p.Arg1058=)
c.3122G= (p.Arg1041=)
c.3170G= (p.Arg1057=)
c.3215G= (p.Arg1072=)
c.3080G= (p.Arg1027=)
c.3212G= (p.Arg1071=)
n.285G=
c.3077G= (p.Arg1026=)
n.3373G=
2g.71570686G>TCA347217066DYSFc.545G>T (p.Arg182Leu)
c.3119G>T (p.Arg1040Leu)
c.3173G>T (p.Arg1058Leu)
c.3122G>T (p.Arg1041Leu)
c.3170G>T (p.Arg1057Leu)
c.3215G>T (p.Arg1072Leu)
c.3080G>T (p.Arg1027Leu)
c.3212G>T (p.Arg1071Leu)
n.285G>T
c.3077G>T (p.Arg1026Leu)
n.3373G>T
2g.71570687G>ACA426702085DYSFc.546G>A (p.Arg182=)
c.3120G>A (p.Arg1040=)
c.3174G>A (p.Arg1058=)
c.3123G>A (p.Arg1041=)
c.3171G>A (p.Arg1057=)
c.3216G>A (p.Arg1072=)
c.3081G>A (p.Arg1027=)
c.3213G>A (p.Arg1071=)
n.286G>A
c.3078G>A (p.Arg1026=)
n.3374G>A
2g.71570687G>CCA426702086DYSFc.546G>C (p.Arg182=)
c.3120G>C (p.Arg1040=)
c.3174G>C (p.Arg1058=)
c.3123G>C (p.Arg1041=)
c.3171G>C (p.Arg1057=)
c.3216G>C (p.Arg1072=)
c.3081G>C (p.Arg1027=)
c.3213G>C (p.Arg1071=)
n.286G>C
c.3078G>C (p.Arg1026=)
n.3374G>C
2g.71570687G>TCA426702087DYSFc.546G>T (p.Arg182=)
c.3120G>T (p.Arg1040=)
c.3174G>T (p.Arg1058=)
c.3123G>T (p.Arg1041=)
c.3171G>T (p.Arg1057=)
c.3216G>T (p.Arg1072=)
c.3081G>T (p.Arg1027=)
c.3213G>T (p.Arg1071=)
n.286G>T
c.3078G>T (p.Arg1026=)
n.3374G>T
2g.71570688C>ACA347217067DYSFc.547C>A (p.Arg183Ser)
c.3121C>A (p.Arg1041Ser)
c.3175C>A (p.Arg1059Ser)
c.3124C>A (p.Arg1042Ser)
c.3172C>A (p.Arg1058Ser)
c.3217C>A (p.Arg1073Ser)
c.3082C>A (p.Arg1028Ser)
c.3214C>A (p.Arg1072Ser)
n.287C>A
c.3079C>A (p.Arg1027Ser)
n.3375C>A
2g.71570688C=CA1260104124DYSFc.547C= (p.Arg183=)
c.3121C= (p.Arg1041=)
c.3175C= (p.Arg1059=)
c.3124C= (p.Arg1042=)
c.3172C= (p.Arg1058=)
c.3217C= (p.Arg1073=)
c.3082C= (p.Arg1028=)
c.3214C= (p.Arg1072=)
n.287C=
c.3079C= (p.Arg1027=)
n.3375C=
2g.71570688C>GCA347217068DYSFc.547C>G (p.Arg183Gly)
c.3121C>G (p.Arg1041Gly)
c.3175C>G (p.Arg1059Gly)
c.3124C>G (p.Arg1042Gly)
c.3172C>G (p.Arg1058Gly)
c.3217C>G (p.Arg1073Gly)
c.3082C>G (p.Arg1028Gly)
c.3214C>G (p.Arg1072Gly)
n.287C>G
c.3079C>G (p.Arg1027Gly)
n.3375C>G
2g.71570688C>TCA1706454DYSFc.547C>T (p.Arg183Cys)
c.3121C>T (p.Arg1041Cys)
c.3175C>T (p.Arg1059Cys)
c.3124C>T (p.Arg1042Cys)
c.3172C>T (p.Arg1058Cys)
c.3217C>T (p.Arg1073Cys)
c.3082C>T (p.Arg1028Cys)
c.3214C>T (p.Arg1072Cys)
n.287C>T
c.3079C>T (p.Arg1027Cys)
n.3375C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570689G>ACA1706455DYSFc.548G>A (p.Arg183His)
c.3122G>A (p.Arg1041His)
c.3176G>A (p.Arg1059His)
c.3125G>A (p.Arg1042His)
c.3173G>A (p.Arg1058His)
c.3218G>A (p.Arg1073His)
c.3083G>A (p.Arg1028His)
c.3215G>A (p.Arg1072His)
n.288G>A
c.3080G>A (p.Arg1027His)
n.3376G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71570689G>CCA347217069DYSFc.548G>C (p.Arg183Pro)
c.3122G>C (p.Arg1041Pro)
c.3176G>C (p.Arg1059Pro)
c.3125G>C (p.Arg1042Pro)
c.3173G>C (p.Arg1058Pro)
c.3218G>C (p.Arg1073Pro)
c.3083G>C (p.Arg1028Pro)
c.3215G>C (p.Arg1072Pro)
n.288G>C
c.3080G>C (p.Arg1027Pro)
n.3376G>C
2g.71570689G=CA1260104125DYSFc.548G= (p.Arg183=)
c.3122G= (p.Arg1041=)
c.3176G= (p.Arg1059=)
c.3125G= (p.Arg1042=)
c.3173G= (p.Arg1058=)
c.3218G= (p.Arg1073=)
c.3083G= (p.Arg1028=)
c.3215G= (p.Arg1072=)
n.288G=
c.3080G= (p.Arg1027=)
n.3376G=
2g.71570689G>TCA1706456DYSFc.548G>T (p.Arg183Leu)
c.3122G>T (p.Arg1041Leu)
c.3176G>T (p.Arg1059Leu)
c.3125G>T (p.Arg1042Leu)
c.3173G>T (p.Arg1058Leu)
c.3218G>T (p.Arg1073Leu)
c.3083G>T (p.Arg1028Leu)
c.3215G>T (p.Arg1072Leu)
n.288G>T
c.3080G>T (p.Arg1027Leu)
n.3376G>T
dbSNP ExAC gnomAD v4
2g.71570689_71570690insACA49746785DYSFc.548_549insA (p.Trp184LeufsTer?)
c.3122_3123insA (p.Trp1042LeufsTer?)
c.3176_3177insA (p.Trp1060LeufsTer?)
c.3125_3126insA (p.Trp1043LeufsTer?)
c.3173_3174insA (p.Trp1059LeufsTer?)
c.3218_3219insA (p.Trp1074LeufsTer?)
c.3083_3084insA (p.Trp1029LeufsTer?)
c.3215_3216insA (p.Trp1073LeufsTer?)
n.288_289insA
c.3080_3081insA (p.Trp1028LeufsTer?)
n.3376_3377insA
dbSNP
2g.71570690C>ACA426702088DYSFc.549C>A (p.Arg183=)
c.3123C>A (p.Arg1041=)
c.3177C>A (p.Arg1059=)
c.3126C>A (p.Arg1042=)
c.3174C>A (p.Arg1058=)
c.3219C>A (p.Arg1073=)
c.3084C>A (p.Arg1028=)
c.3216C>A (p.Arg1072=)
n.289C>A
c.3081C>A (p.Arg1027=)
n.3377C>A
2g.71570690C>GCA426702089DYSFc.549C>G (p.Arg183=)
c.3123C>G (p.Arg1041=)
c.3177C>G (p.Arg1059=)
c.3126C>G (p.Arg1042=)
c.3174C>G (p.Arg1058=)
c.3219C>G (p.Arg1073=)
c.3084C>G (p.Arg1028=)
c.3216C>G (p.Arg1072=)
n.289C>G
c.3081C>G (p.Arg1027=)
n.3377C>G
2g.71570690C>TCA426702090DYSFc.549C>T (p.Arg183=)
c.3123C>T (p.Arg1041=)
c.3177C>T (p.Arg1059=)
c.3126C>T (p.Arg1042=)
c.3174C>T (p.Arg1058=)
c.3219C>T (p.Arg1073=)
c.3084C>T (p.Arg1028=)
c.3216C>T (p.Arg1072=)
n.289C>T
c.3081C>T (p.Arg1027=)
n.3377C>T
gnomAD v4
2g.71570691T>ACA347217070DYSFc.550T>A (p.Trp184Arg)
c.3124T>A (p.Trp1042Arg)
c.3178T>A (p.Trp1060Arg)
c.3127T>A (p.Trp1043Arg)
c.3175T>A (p.Trp1059Arg)
c.3220T>A (p.Trp1074Arg)
c.3085T>A (p.Trp1029Arg)
c.3217T>A (p.Trp1073Arg)
n.290T>A
c.3082T>A (p.Trp1028Arg)
n.3378T>A
2g.71570691T>CCA347217071DYSFc.550T>C (p.Trp184Arg)
c.3124T>C (p.Trp1042Arg)
c.3178T>C (p.Trp1060Arg)
c.3127T>C (p.Trp1043Arg)
c.3175T>C (p.Trp1059Arg)
c.3220T>C (p.Trp1074Arg)
c.3085T>C (p.Trp1029Arg)
c.3217T>C (p.Trp1073Arg)
n.290T>C
c.3082T>C (p.Trp1028Arg)
n.3378T>C
dbSNP gnomAD v4
2g.71570691T>GCA347217072DYSFc.550T>G (p.Trp184Gly)
c.3124T>G (p.Trp1042Gly)
c.3178T>G (p.Trp1060Gly)
c.3127T>G (p.Trp1043Gly)
c.3175T>G (p.Trp1059Gly)
c.3220T>G (p.Trp1074Gly)
c.3085T>G (p.Trp1029Gly)
c.3217T>G (p.Trp1073Gly)
n.290T>G
c.3082T>G (p.Trp1028Gly)
n.3378T>G
2g.71570691T=CA1260104127DYSFc.550T= (p.Trp184=)
c.3124T= (p.Trp1042=)
c.3178T= (p.Trp1060=)
c.3127T= (p.Trp1043=)
c.3175T= (p.Trp1059=)
c.3220T= (p.Trp1074=)
c.3085T= (p.Trp1029=)
c.3217T= (p.Trp1073=)
n.290T=
c.3082T= (p.Trp1028=)
n.3378T=
2g.71570691_71570692delinsTGCA1260104126DYSFc.550_551delinsTG (p.Trp184=)
c.3124_3125delinsTG (p.Trp1042=)
c.3178_3179delinsTG (p.Trp1060=)
c.3127_3128delinsTG (p.Trp1043=)
c.3175_3176delinsTG (p.Trp1059=)
c.3220_3221delinsTG (p.Trp1074=)
c.3085_3086delinsTG (p.Trp1029=)
c.3217_3218delinsTG (p.Trp1073=)
n.290_291delinsTG
c.3082_3083delinsTG (p.Trp1028=)
n.3378_3379delinsTG
2g.71570692G>ACA347217073DYSFc.551G>A (p.Trp184Ter)
c.3125G>A (p.Trp1042Ter)
c.3179G>A (p.Trp1060Ter)
c.3128G>A (p.Trp1043Ter)
c.3176G>A (p.Trp1059Ter)
c.3221G>A (p.Trp1074Ter)
c.3086G>A (p.Trp1029Ter)
c.3218G>A (p.Trp1073Ter)
n.291G>A
c.3083G>A (p.Trp1028Ter)
n.3379G>A
ClinVar dbSNP
2g.71570692G>CCA347217074DYSFc.551G>C (p.Trp184Ser)
c.3125G>C (p.Trp1042Ser)
c.3179G>C (p.Trp1060Ser)
c.3128G>C (p.Trp1043Ser)
c.3176G>C (p.Trp1059Ser)
c.3221G>C (p.Trp1074Ser)
c.3086G>C (p.Trp1029Ser)
c.3218G>C (p.Trp1073Ser)
n.291G>C
c.3083G>C (p.Trp1028Ser)
n.3379G>C
2g.71570692G=CA1260104128DYSFc.551G= (p.Trp184=)
c.3125G= (p.Trp1042=)
c.3179G= (p.Trp1060=)
c.3128G= (p.Trp1043=)
c.3176G= (p.Trp1059=)
c.3221G= (p.Trp1074=)
c.3086G= (p.Trp1029=)
c.3218G= (p.Trp1073=)
n.291G=
c.3083G= (p.Trp1028=)
n.3379G=
2g.71570692G>TCA347217075DYSFc.551G>T (p.Trp184Leu)
c.3125G>T (p.Trp1042Leu)
c.3179G>T (p.Trp1060Leu)
c.3128G>T (p.Trp1043Leu)
c.3176G>T (p.Trp1059Leu)
c.3221G>T (p.Trp1074Leu)
c.3086G>T (p.Trp1029Leu)
c.3218G>T (p.Trp1073Leu)
n.291G>T
c.3083G>T (p.Trp1028Leu)
n.3379G>T
COSMIC
2g.71570694delCA347217076DYSFc.553del (p.Val185CysfsTer14)
c.3127del (p.Val1043CysfsTer14)
c.3181del (p.Val1061CysfsTer14)
c.3130del (p.Val1044CysfsTer14)
c.3178del (p.Val1060CysfsTer14)
c.3223del (p.Val1075CysfsTer14)
c.3088del (p.Val1030CysfsTer14)
c.3220del (p.Val1074CysfsTer14)
n.293del
c.3085del (p.Val1029CysfsTer14)
n.3381del
dbSNP
2g.71570693G>ACA347217077DYSFc.552G>A (p.Trp184Ter)
c.3126G>A (p.Trp1042Ter)
c.3180G>A (p.Trp1060Ter)
c.3129G>A (p.Trp1043Ter)
c.3177G>A (p.Trp1059Ter)
c.3222G>A (p.Trp1074Ter)
c.3087G>A (p.Trp1029Ter)
c.3219G>A (p.Trp1073Ter)
n.292G>A
c.3084G>A (p.Trp1028Ter)
n.3380G>A
ClinVar
2g.71570693G>CCA347217079DYSFc.552G>C (p.Trp184Cys)
c.3126G>C (p.Trp1042Cys)
c.3180G>C (p.Trp1060Cys)
c.3129G>C (p.Trp1043Cys)
c.3177G>C (p.Trp1059Cys)
c.3222G>C (p.Trp1074Cys)
c.3087G>C (p.Trp1029Cys)
c.3219G>C (p.Trp1073Cys)
n.292G>C
c.3084G>C (p.Trp1028Cys)
n.3380G>C
dbSNP gnomAD v4
2g.71570693G=CA1260104129DYSFc.552G= (p.Trp184=)
c.3126G= (p.Trp1042=)
c.3180G= (p.Trp1060=)
c.3129G= (p.Trp1043=)
c.3177G= (p.Trp1059=)
c.3222G= (p.Trp1074=)
c.3087G= (p.Trp1029=)
c.3219G= (p.Trp1073=)
n.292G=
c.3084G= (p.Trp1028=)
n.3380G=
2g.71570693G>TCA347217078DYSFc.552G>T (p.Trp184Cys)
c.3126G>T (p.Trp1042Cys)
c.3180G>T (p.Trp1060Cys)
c.3129G>T (p.Trp1043Cys)
c.3177G>T (p.Trp1059Cys)
c.3222G>T (p.Trp1074Cys)
c.3087G>T (p.Trp1029Cys)
c.3219G>T (p.Trp1073Cys)
n.292G>T
c.3084G>T (p.Trp1028Cys)
n.3380G>T
2g.71570694G>ACA347217080DYSFc.553G>A (p.Val185Met)
c.3127G>A (p.Val1043Met)
c.3181G>A (p.Val1061Met)
c.3130G>A (p.Val1044Met)
c.3178G>A (p.Val1060Met)
c.3223G>A (p.Val1075Met)
c.3088G>A (p.Val1030Met)
c.3220G>A (p.Val1074Met)
n.293G>A
c.3085G>A (p.Val1029Met)
n.3381G>A
COSMIC COSMIC
2g.71570694G>CCA347217081DYSFc.553G>C (p.Val185Leu)
c.3127G>C (p.Val1043Leu)
c.3181G>C (p.Val1061Leu)
c.3130G>C (p.Val1044Leu)
c.3178G>C (p.Val1060Leu)
c.3223G>C (p.Val1075Leu)
c.3088G>C (p.Val1030Leu)
c.3220G>C (p.Val1074Leu)
n.293G>C
c.3085G>C (p.Val1029Leu)
n.3381G>C
2g.71570694G=CA1260104130DYSFc.553G= (p.Val185=)
c.3127G= (p.Val1043=)
c.3181G= (p.Val1061=)
c.3130G= (p.Val1044=)
c.3178G= (p.Val1060=)
c.3223G= (p.Val1075=)
c.3088G= (p.Val1030=)
c.3220G= (p.Val1074=)
n.293G=
c.3085G= (p.Val1029=)
n.3381G=
2g.71570694G>TCA49746795DYSFc.553G>T (p.Val185Leu)
c.3127G>T (p.Val1043Leu)
c.3181G>T (p.Val1061Leu)
c.3130G>T (p.Val1044Leu)
c.3178G>T (p.Val1060Leu)
c.3223G>T (p.Val1075Leu)
c.3088G>T (p.Val1030Leu)
c.3220G>T (p.Val1074Leu)
n.293G>T
c.3085G>T (p.Val1029Leu)
n.3381G>T
dbSNP
2g.71570695T>ACA347217084DYSFc.554T>A (p.Val185Glu)
c.3128T>A (p.Val1043Glu)
c.3182T>A (p.Val1061Glu)
c.3131T>A (p.Val1044Glu)
c.3179T>A (p.Val1060Glu)
c.3224T>A (p.Val1075Glu)
c.3089T>A (p.Val1030Glu)
c.3221T>A (p.Val1074Glu)
n.294T>A
c.3086T>A (p.Val1029Glu)
n.3382T>A
2g.71570695T>CCA347217082DYSFc.554T>C (p.Val185Ala)
c.3128T>C (p.Val1043Ala)
c.3182T>C (p.Val1061Ala)
c.3131T>C (p.Val1044Ala)
c.3179T>C (p.Val1060Ala)
c.3224T>C (p.Val1075Ala)
c.3089T>C (p.Val1030Ala)
c.3221T>C (p.Val1074Ala)
n.294T>C
c.3086T>C (p.Val1029Ala)
n.3382T>C
2g.71570695T>GCA347217083DYSFc.554T>G (p.Val185Gly)
c.3128T>G (p.Val1043Gly)
c.3182T>G (p.Val1061Gly)
c.3131T>G (p.Val1044Gly)
c.3179T>G (p.Val1060Gly)
c.3224T>G (p.Val1075Gly)
c.3089T>G (p.Val1030Gly)
c.3221T>G (p.Val1074Gly)
n.294T>G
c.3086T>G (p.Val1029Gly)
n.3382T>G
dbSNP
2g.71570695T=CA1260104131DYSFc.554T= (p.Val185=)
c.3128T= (p.Val1043=)
c.3182T= (p.Val1061=)
c.3131T= (p.Val1044=)
c.3179T= (p.Val1060=)
c.3224T= (p.Val1075=)
c.3089T= (p.Val1030=)
c.3221T= (p.Val1074=)
n.294T=
c.3086T= (p.Val1029=)
n.3382T=
2g.71570696G>ACA426702091DYSFc.555G>A (p.Val185=)
c.3129G>A (p.Val1043=)
c.3183G>A (p.Val1061=)
c.3132G>A (p.Val1044=)
c.3180G>A (p.Val1060=)
c.3225G>A (p.Val1075=)
c.3090G>A (p.Val1030=)
c.3222G>A (p.Val1074=)
n.295G>A
c.3087G>A (p.Val1029=)
n.3383G>A
2g.71570696G>CCA426702092DYSFc.555G>C (p.Val185=)
c.3129G>C (p.Val1043=)
c.3183G>C (p.Val1061=)
c.3132G>C (p.Val1044=)
c.3180G>C (p.Val1060=)
c.3225G>C (p.Val1075=)
c.3090G>C (p.Val1030=)
c.3222G>C (p.Val1074=)
n.295G>C
c.3087G>C (p.Val1029=)
n.3383G>C
dbSNP gnomAD v2 gnomAD v4
2g.71570696G=CA1260104132DYSFc.555G= (p.Val185=)
c.3129G= (p.Val1043=)
c.3183G= (p.Val1061=)
c.3132G= (p.Val1044=)
c.3180G= (p.Val1060=)
c.3225G= (p.Val1075=)
c.3090G= (p.Val1030=)
c.3222G= (p.Val1074=)
n.295G=
c.3087G= (p.Val1029=)
n.3383G=
2g.71570696G>TCA426702093DYSFc.555G>T (p.Val185=)
c.3129G>T (p.Val1043=)
c.3183G>T (p.Val1061=)
c.3132G>T (p.Val1044=)
c.3180G>T (p.Val1060=)
c.3225G>T (p.Val1075=)
c.3090G>T (p.Val1030=)
c.3222G>T (p.Val1074=)
n.295G>T
c.3087G>T (p.Val1029=)
n.3383G>T
2g.71570697C>ACA347217085DYSFc.556C>A (p.Arg186Ser)
c.3130C>A (p.Arg1044Ser)
c.3184C>A (p.Arg1062Ser)
c.3133C>A (p.Arg1045Ser)
c.3181C>A (p.Arg1061Ser)
c.3226C>A (p.Arg1076Ser)
c.3091C>A (p.Arg1031Ser)
c.3223C>A (p.Arg1075Ser)
n.296C>A
c.3088C>A (p.Arg1030Ser)
n.3384C>A
2g.71570697C=CA1260104133DYSFc.556C= (p.Arg186=)
c.3130C= (p.Arg1044=)
c.3184C= (p.Arg1062=)
c.3133C= (p.Arg1045=)
c.3181C= (p.Arg1061=)
c.3226C= (p.Arg1076=)
c.3091C= (p.Arg1031=)
c.3223C= (p.Arg1075=)
n.296C=
c.3088C= (p.Arg1030=)
n.3384C=
2g.71570697C>GCA347217086DYSFc.556C>G (p.Arg186Gly)
c.3130C>G (p.Arg1044Gly)
c.3184C>G (p.Arg1062Gly)
c.3133C>G (p.Arg1045Gly)
c.3181C>G (p.Arg1061Gly)
c.3226C>G (p.Arg1076Gly)
c.3091C>G (p.Arg1031Gly)
c.3223C>G (p.Arg1075Gly)
n.296C>G
c.3088C>G (p.Arg1030Gly)
n.3384C>G
2g.71570697C>TCA1706457DYSFc.556C>T (p.Arg186Cys)
c.3130C>T (p.Arg1044Cys)
c.3184C>T (p.Arg1062Cys)
c.3133C>T (p.Arg1045Cys)
c.3181C>T (p.Arg1061Cys)
c.3226C>T (p.Arg1076Cys)
c.3091C>T (p.Arg1031Cys)
c.3223C>T (p.Arg1075Cys)
n.296C>T
c.3088C>T (p.Arg1030Cys)
n.3384C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570698G>ACA1706458DYSFc.557G>A (p.Arg186His)
c.3131G>A (p.Arg1044His)
c.3185G>A (p.Arg1062His)
c.3134G>A (p.Arg1045His)
c.3182G>A (p.Arg1061His)
c.3227G>A (p.Arg1076His)
c.3092G>A (p.Arg1031His)
c.3224G>A (p.Arg1075His)
n.297G>A
c.3089G>A (p.Arg1030His)
n.3385G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570698G>CCA347217087DYSFc.557G>C (p.Arg186Pro)
c.3131G>C (p.Arg1044Pro)
c.3185G>C (p.Arg1062Pro)
c.3134G>C (p.Arg1045Pro)
c.3182G>C (p.Arg1061Pro)
c.3227G>C (p.Arg1076Pro)
c.3092G>C (p.Arg1031Pro)
c.3224G>C (p.Arg1075Pro)
n.297G>C
c.3089G>C (p.Arg1030Pro)
n.3385G>C
COSMIC COSMIC
2g.71570698G=CA1260104134DYSFc.557G= (p.Arg186=)
c.3131G= (p.Arg1044=)
c.3185G= (p.Arg1062=)
c.3134G= (p.Arg1045=)
c.3182G= (p.Arg1061=)
c.3227G= (p.Arg1076=)
c.3092G= (p.Arg1031=)
c.3224G= (p.Arg1075=)
n.297G=
c.3089G= (p.Arg1030=)
n.3385G=
2g.71570698G>TCA49746817DYSFc.557G>T (p.Arg186Leu)
c.3131G>T (p.Arg1044Leu)
c.3185G>T (p.Arg1062Leu)
c.3134G>T (p.Arg1045Leu)
c.3182G>T (p.Arg1061Leu)
c.3227G>T (p.Arg1076Leu)
c.3092G>T (p.Arg1031Leu)
c.3224G>T (p.Arg1075Leu)
n.297G>T
c.3089G>T (p.Arg1030Leu)
n.3385G>T
dbSNP
2g.71570699C>ACA426702094DYSFc.558C>A (p.Arg186=)
c.3132C>A (p.Arg1044=)
c.3186C>A (p.Arg1062=)
c.3135C>A (p.Arg1045=)
c.3183C>A (p.Arg1061=)
c.3228C>A (p.Arg1076=)
c.3093C>A (p.Arg1031=)
c.3225C>A (p.Arg1075=)
n.298C>A
c.3090C>A (p.Arg1030=)
n.3386C>A
dbSNP gnomAD v4
2g.71570699C=CA1260104135DYSFc.558C= (p.Arg186=)
c.3132C= (p.Arg1044=)
c.3186C= (p.Arg1062=)
c.3135C= (p.Arg1045=)
c.3183C= (p.Arg1061=)
c.3228C= (p.Arg1076=)
c.3093C= (p.Arg1031=)
c.3225C= (p.Arg1075=)
n.298C=
c.3090C= (p.Arg1030=)
n.3386C=
2g.71570699C>GCA426702095DYSFc.558C>G (p.Arg186=)
c.3132C>G (p.Arg1044=)
c.3186C>G (p.Arg1062=)
c.3135C>G (p.Arg1045=)
c.3183C>G (p.Arg1061=)
c.3228C>G (p.Arg1076=)
c.3093C>G (p.Arg1031=)
c.3225C>G (p.Arg1075=)
n.298C>G
c.3090C>G (p.Arg1030=)
n.3386C>G
2g.71570699C>TCA426702096DYSFc.558C>T (p.Arg186=)
c.3132C>T (p.Arg1044=)
c.3186C>T (p.Arg1062=)
c.3135C>T (p.Arg1045=)
c.3183C>T (p.Arg1061=)
c.3228C>T (p.Arg1076=)
c.3093C>T (p.Arg1031=)
c.3225C>T (p.Arg1075=)
n.298C>T
c.3090C>T (p.Arg1030=)
n.3386C>T
ClinVar dbSNP
2g.71570700delCA2659549638DYSFc.559del (p.Leu187CysfsTer12)
c.3133del (p.Leu1045CysfsTer12)
c.3187del (p.Leu1063CysfsTer12)
c.3136del (p.Leu1046CysfsTer12)
c.3184del (p.Leu1062CysfsTer12)
c.3229del (p.Leu1077CysfsTer12)
c.3094del (p.Leu1032CysfsTer12)
c.3226del (p.Leu1076CysfsTer12)
n.299del
c.3091del (p.Leu1031CysfsTer12)
n.3387del
gnomAD v4
2g.71570700C>ACA347217089DYSFc.559C>A (p.Leu187Met)
c.3133C>A (p.Leu1045Met)
c.3187C>A (p.Leu1063Met)
c.3136C>A (p.Leu1046Met)
c.3184C>A (p.Leu1062Met)
c.3229C>A (p.Leu1077Met)
c.3094C>A (p.Leu1032Met)
c.3226C>A (p.Leu1076Met)
n.299C>A
c.3091C>A (p.Leu1031Met)
n.3387C>A
2g.71570700C>GCA347217088DYSFc.559C>G (p.Leu187Val)
c.3133C>G (p.Leu1045Val)
c.3187C>G (p.Leu1063Val)
c.3136C>G (p.Leu1046Val)
c.3184C>G (p.Leu1062Val)
c.3229C>G (p.Leu1077Val)
c.3094C>G (p.Leu1032Val)
c.3226C>G (p.Leu1076Val)
n.299C>G
c.3091C>G (p.Leu1031Val)
n.3387C>G
2g.71570700C>TCA426702097DYSFc.559C>T (p.Leu187=)
c.3133C>T (p.Leu1045=)
c.3187C>T (p.Leu1063=)
c.3136C>T (p.Leu1046=)
c.3184C>T (p.Leu1062=)
c.3229C>T (p.Leu1077=)
c.3094C>T (p.Leu1032=)
c.3226C>T (p.Leu1076=)
n.299C>T
c.3091C>T (p.Leu1031=)
n.3387C>T
ClinVar dbSNP gnomAD v4
2g.71570701T>ACA347217090DYSFc.560T>A (p.Leu187Gln)
c.3134T>A (p.Leu1045Gln)
c.3188T>A (p.Leu1063Gln)
c.3137T>A (p.Leu1046Gln)
c.3185T>A (p.Leu1062Gln)
c.3230T>A (p.Leu1077Gln)
c.3095T>A (p.Leu1032Gln)
c.3227T>A (p.Leu1076Gln)
n.300T>A
c.3092T>A (p.Leu1031Gln)
n.3388T>A
2g.71570701T>CCA347217091DYSFc.560T>C (p.Leu187Pro)
c.3134T>C (p.Leu1045Pro)
c.3188T>C (p.Leu1063Pro)
c.3137T>C (p.Leu1046Pro)
c.3185T>C (p.Leu1062Pro)
c.3230T>C (p.Leu1077Pro)
c.3095T>C (p.Leu1032Pro)
c.3227T>C (p.Leu1076Pro)
n.300T>C
c.3092T>C (p.Leu1031Pro)
n.3388T>C
2g.71570701T>GCA49746818DYSFc.560T>G (p.Leu187Arg)
c.3134T>G (p.Leu1045Arg)
c.3188T>G (p.Leu1063Arg)
c.3137T>G (p.Leu1046Arg)
c.3185T>G (p.Leu1062Arg)
c.3230T>G (p.Leu1077Arg)
c.3095T>G (p.Leu1032Arg)
c.3227T>G (p.Leu1076Arg)
n.300T>G
c.3092T>G (p.Leu1031Arg)
n.3388T>G
dbSNP
2g.71570701T=CA1260104136DYSFc.560T= (p.Leu187=)
c.3134T= (p.Leu1045=)
c.3188T= (p.Leu1063=)
c.3137T= (p.Leu1046=)
c.3185T= (p.Leu1062=)
c.3230T= (p.Leu1077=)
c.3095T= (p.Leu1032=)
c.3227T= (p.Leu1076=)
n.300T=
c.3092T= (p.Leu1031=)
n.3388T=
2g.71570702G>ACA426702099DYSFc.561G>A (p.Leu187=)
c.3135G>A (p.Leu1045=)
c.3189G>A (p.Leu1063=)
c.3138G>A (p.Leu1046=)
c.3186G>A (p.Leu1062=)
c.3231G>A (p.Leu1077=)
c.3096G>A (p.Leu1032=)
c.3228G>A (p.Leu1076=)
n.301G>A
c.3093G>A (p.Leu1031=)
n.3389G>A
ClinVar dbSNP
2g.71570702G>CCA426702100DYSFc.561G>C (p.Leu187=)
c.3135G>C (p.Leu1045=)
c.3189G>C (p.Leu1063=)
c.3138G>C (p.Leu1046=)
c.3186G>C (p.Leu1062=)
c.3231G>C (p.Leu1077=)
c.3096G>C (p.Leu1032=)
c.3228G>C (p.Leu1076=)
n.301G>C
c.3093G>C (p.Leu1031=)
n.3389G>C
2g.71570702G>TCA426702098DYSFc.561G>T (p.Leu187=)
c.3135G>T (p.Leu1045=)
c.3189G>T (p.Leu1063=)
c.3138G>T (p.Leu1046=)
c.3186G>T (p.Leu1062=)
c.3231G>T (p.Leu1077=)
c.3096G>T (p.Leu1032=)
c.3228G>T (p.Leu1076=)
n.301G>T
c.3093G>T (p.Leu1031=)
n.3389G>T
ClinVar dbSNP gnomAD v4
2g.71570703C>ACA347217092DYSFc.562C>A (p.Arg188Ser)
c.3136C>A (p.Arg1046Ser)
c.3190C>A (p.Arg1064Ser)
c.3139C>A (p.Arg1047Ser)
c.3187C>A (p.Arg1063Ser)
c.3232C>A (p.Arg1078Ser)
c.3097C>A (p.Arg1033Ser)
c.3229C>A (p.Arg1077Ser)
n.302C>A
c.3094C>A (p.Arg1032Ser)
n.3390C>A
ClinVar
2g.71570703C=CA1260104137DYSFc.562C= (p.Arg188=)
c.3136C= (p.Arg1046=)
c.3190C= (p.Arg1064=)
c.3139C= (p.Arg1047=)
c.3187C= (p.Arg1063=)
c.3232C= (p.Arg1078=)
c.3097C= (p.Arg1033=)
c.3229C= (p.Arg1077=)
n.302C=
c.3094C= (p.Arg1032=)
n.3390C=
2g.71570703C>GCA347217093DYSFc.562C>G (p.Arg188Gly)
c.3136C>G (p.Arg1046Gly)
c.3190C>G (p.Arg1064Gly)
c.3139C>G (p.Arg1047Gly)
c.3187C>G (p.Arg1063Gly)
c.3232C>G (p.Arg1078Gly)
c.3097C>G (p.Arg1033Gly)
c.3229C>G (p.Arg1077Gly)
n.302C>G
c.3094C>G (p.Arg1032Gly)
n.3390C>G
2g.71570703C>TCA1706459DYSFc.562C>T (p.Arg188Cys)
c.3136C>T (p.Arg1046Cys)
c.3190C>T (p.Arg1064Cys)
c.3139C>T (p.Arg1047Cys)
c.3187C>T (p.Arg1063Cys)
c.3232C>T (p.Arg1078Cys)
c.3097C>T (p.Arg1033Cys)
c.3229C>T (p.Arg1077Cys)
n.302C>T
c.3094C>T (p.Arg1032Cys)
n.3390C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570704G>ACA222152DYSFc.563G>A (p.Arg188His)
c.3137G>A (p.Arg1046His)
c.3191G>A (p.Arg1064His)
c.3140G>A (p.Arg1047His)
c.3188G>A (p.Arg1063His)
c.3233G>A (p.Arg1078His)
c.3098G>A (p.Arg1033His)
c.3230G>A (p.Arg1077His)
n.303G>A
c.3095G>A (p.Arg1032His)
n.3391G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570704G>CCA347217095DYSFc.563G>C (p.Arg188Pro)
c.3137G>C (p.Arg1046Pro)
c.3191G>C (p.Arg1064Pro)
c.3140G>C (p.Arg1047Pro)
c.3188G>C (p.Arg1063Pro)
c.3233G>C (p.Arg1078Pro)
c.3098G>C (p.Arg1033Pro)
c.3230G>C (p.Arg1077Pro)
n.303G>C
c.3095G>C (p.Arg1032Pro)
n.3391G>C
2g.71570704G=CA1260104138DYSFc.563G= (p.Arg188=)
c.3137G= (p.Arg1046=)
c.3191G= (p.Arg1064=)
c.3140G= (p.Arg1047=)
c.3188G= (p.Arg1063=)
c.3233G= (p.Arg1078=)
c.3098G= (p.Arg1033=)
c.3230G= (p.Arg1077=)
n.303G=
c.3095G= (p.Arg1032=)
n.3391G=
2g.71570704G>TCA347217094DYSFc.563G>T (p.Arg188Leu)
c.3137G>T (p.Arg1046Leu)
c.3191G>T (p.Arg1064Leu)
c.3140G>T (p.Arg1047Leu)
c.3188G>T (p.Arg1063Leu)
c.3233G>T (p.Arg1078Leu)
c.3098G>T (p.Arg1033Leu)
c.3230G>T (p.Arg1077Leu)
n.303G>T
c.3095G>T (p.Arg1032Leu)
n.3391G>T
2g.71570705C>ACA426702103DYSFc.564C>A (p.Arg188=)
c.3138C>A (p.Arg1046=)
c.3192C>A (p.Arg1064=)
c.3141C>A (p.Arg1047=)
c.3189C>A (p.Arg1063=)
c.3234C>A (p.Arg1078=)
c.3099C>A (p.Arg1033=)
c.3231C>A (p.Arg1077=)
n.304C>A
c.3096C>A (p.Arg1032=)
n.3392C>A
2g.71570705C>GCA426702101DYSFc.564C>G (p.Arg188=)
c.3138C>G (p.Arg1046=)
c.3192C>G (p.Arg1064=)
c.3141C>G (p.Arg1047=)
c.3189C>G (p.Arg1063=)
c.3234C>G (p.Arg1078=)
c.3099C>G (p.Arg1033=)
c.3231C>G (p.Arg1077=)
n.304C>G
c.3096C>G (p.Arg1032=)
n.3392C>G
2g.71570705C>TCA426702102DYSFc.564C>T (p.Arg188=)
c.3138C>T (p.Arg1046=)
c.3192C>T (p.Arg1064=)
c.3141C>T (p.Arg1047=)
c.3189C>T (p.Arg1063=)
c.3234C>T (p.Arg1078=)
c.3099C>T (p.Arg1033=)
c.3231C>T (p.Arg1077=)
n.304C>T
c.3096C>T (p.Arg1032=)
n.3392C>T
2g.71570706A>CCA426702104DYSFc.565A>C (p.Arg189=)
c.3139A>C (p.Arg1047=)
c.3193A>C (p.Arg1065=)
c.3142A>C (p.Arg1048=)
c.3190A>C (p.Arg1064=)
c.3235A>C (p.Arg1079=)
c.3100A>C (p.Arg1034=)
c.3232A>C (p.Arg1078=)
n.305A>C
c.3097A>C (p.Arg1033=)
n.3393A>C
2g.71570706A>GCA347217096DYSFc.565A>G (p.Arg189Gly)
c.3139A>G (p.Arg1047Gly)
c.3193A>G (p.Arg1065Gly)
c.3142A>G (p.Arg1048Gly)
c.3190A>G (p.Arg1064Gly)
c.3235A>G (p.Arg1079Gly)
c.3100A>G (p.Arg1034Gly)
c.3232A>G (p.Arg1078Gly)
n.305A>G
c.3097A>G (p.Arg1033Gly)
n.3393A>G
2g.71570706A>TCA347217097DYSFc.565A>T (p.Arg189Trp)
c.3139A>T (p.Arg1047Trp)
c.3193A>T (p.Arg1065Trp)
c.3142A>T (p.Arg1048Trp)
c.3190A>T (p.Arg1064Trp)
c.3235A>T (p.Arg1079Trp)
c.3100A>T (p.Arg1034Trp)
c.3232A>T (p.Arg1078Trp)
n.305A>T
c.3097A>T (p.Arg1033Trp)
n.3393A>T
2g.71570707G>ACA347217098DYSFc.566G>A (p.Arg189Lys)
c.3140G>A (p.Arg1047Lys)
c.3194G>A (p.Arg1065Lys)
c.3143G>A (p.Arg1048Lys)
c.3191G>A (p.Arg1064Lys)
c.3236G>A (p.Arg1079Lys)
c.3101G>A (p.Arg1034Lys)
c.3233G>A (p.Arg1078Lys)
n.306G>A
c.3098G>A (p.Arg1033Lys)
n.3394G>A
2g.71570707G>CCA347217099DYSFc.566G>C (p.Arg189Thr)
c.3140G>C (p.Arg1047Thr)
c.3194G>C (p.Arg1065Thr)
c.3143G>C (p.Arg1048Thr)
c.3191G>C (p.Arg1064Thr)
c.3236G>C (p.Arg1079Thr)
c.3101G>C (p.Arg1034Thr)
c.3233G>C (p.Arg1078Thr)
n.306G>C
c.3098G>C (p.Arg1033Thr)
n.3394G>C
2g.71570707G>TCA347217100DYSFc.566G>T (p.Arg189Met)
c.3140G>T (p.Arg1047Met)
c.3194G>T (p.Arg1065Met)
c.3143G>T (p.Arg1048Met)
c.3191G>T (p.Arg1064Met)
c.3236G>T (p.Arg1079Met)
c.3101G>T (p.Arg1034Met)
c.3233G>T (p.Arg1078Met)
n.306G>T
c.3098G>T (p.Arg1033Met)
n.3394G>T

Number of alleles fetched