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.71570541_71570569delCA2577000232DYSFc.458-58_458-30del (n.458-58_458-30del)
c.3032-58_3032-30del (n.3032-58_3032-30del)
c.3086-58_3086-30del (n.3086-58_3086-30del)
c.3035-58_3035-30del (n.3035-58_3035-30del)
c.3083-58_3083-30del (n.3083-58_3083-30del)
c.3128-58_3128-30del (n.3128-58_3128-30del)
c.2993-58_2993-30del (n.2993-58_2993-30del)
c.3125-58_3125-30del (n.3125-58_3125-30del)
n.198-58_198-30del
c.2990-58_2990-30del (n.2990-58_2990-30del)
n.3286-58_3286-30del
 gnomAD v4
2g.71570565C>ACA2577000235DYSFc.458-34C>A (n.458-34C>A)
c.3032-34C>A (n.3032-34C>A)
c.3086-34C>A (n.3086-34C>A)
c.3035-34C>A (n.3035-34C>A)
c.3083-34C>A (n.3083-34C>A)
c.3128-34C>A (n.3128-34C>A)
c.2993-34C>A (n.2993-34C>A)
c.3125-34C>A (n.3125-34C>A)
n.198-34C>A
c.2990-34C>A (n.2990-34C>A)
n.3286-34C>A
2g.71570566C=CA1260104038DYSFc.458-33C= (n.458-33C=)
c.3032-33C= (n.3032-33C=)
c.3086-33C= (n.3086-33C=)
c.3035-33C= (n.3035-33C=)
c.3083-33C= (n.3083-33C=)
c.3128-33C= (n.3128-33C=)
c.2993-33C= (n.2993-33C=)
c.3125-33C= (n.3125-33C=)
n.198-33C=
c.2990-33C= (n.2990-33C=)
n.3286-33C=
2g.71570566C>TCA533655742DYSFc.458-33C>T (n.458-33C>T)
c.3032-33C>T (n.3032-33C>T)
c.3086-33C>T (n.3086-33C>T)
c.3035-33C>T (n.3035-33C>T)
c.3083-33C>T (n.3083-33C>T)
c.3128-33C>T (n.3128-33C>T)
c.2993-33C>T (n.2993-33C>T)
c.3125-33C>T (n.3125-33C>T)
n.198-33C>T
c.2990-33C>T (n.2990-33C>T)
n.3286-33C>T
 dbSNP gnomAD v2 gnomAD v4
2g.71570567A=CA1260104039DYSFc.458-32A= (n.458-32A=)
c.3032-32A= (n.3032-32A=)
c.3086-32A= (n.3086-32A=)
c.3035-32A= (n.3035-32A=)
c.3083-32A= (n.3083-32A=)
c.3128-32A= (n.3128-32A=)
c.2993-32A= (n.2993-32A=)
c.3125-32A= (n.3125-32A=)
n.198-32A=
c.2990-32A= (n.2990-32A=)
n.3286-32A=
2g.71570567A>GCA1260104040DYSFc.458-32A>G (n.458-32A>G)
c.3032-32A>G (n.3032-32A>G)
c.3086-32A>G (n.3086-32A>G)
c.3035-32A>G (n.3035-32A>G)
c.3083-32A>G (n.3083-32A>G)
c.3128-32A>G (n.3128-32A>G)
c.2993-32A>G (n.2993-32A>G)
c.3125-32A>G (n.3125-32A>G)
n.198-32A>G
c.2990-32A>G (n.2990-32A>G)
n.3286-32A>G
 dbSNP gnomAD v4
2g.71570568A>GCA2659549591DYSFc.458-31A>G (n.458-31A>G)
c.3032-31A>G (n.3032-31A>G)
c.3086-31A>G (n.3086-31A>G)
c.3035-31A>G (n.3035-31A>G)
c.3083-31A>G (n.3083-31A>G)
c.3128-31A>G (n.3128-31A>G)
c.2993-31A>G (n.2993-31A>G)
c.3125-31A>G (n.3125-31A>G)
n.198-31A>G
c.2990-31A>G (n.2990-31A>G)
n.3286-31A>G
 gnomAD v4
2g.71570569G>ACA2559206525DYSFc.458-30G>A (n.458-30G>A)
c.3032-30G>A (n.3032-30G>A)
c.3086-30G>A (n.3086-30G>A)
c.3035-30G>A (n.3035-30G>A)
c.3083-30G>A (n.3083-30G>A)
c.3128-30G>A (n.3128-30G>A)
c.2993-30G>A (n.2993-30G>A)
c.3125-30G>A (n.3125-30G>A)
n.198-30G>A
c.2990-30G>A (n.2990-30G>A)
n.3286-30G>A
2g.71570569G>CCA2659549592DYSFc.458-30G>C (n.458-30G>C)
c.3032-30G>C (n.3032-30G>C)
c.3086-30G>C (n.3086-30G>C)
c.3035-30G>C (n.3035-30G>C)
c.3083-30G>C (n.3083-30G>C)
c.3128-30G>C (n.3128-30G>C)
c.2993-30G>C (n.2993-30G>C)
c.3125-30G>C (n.3125-30G>C)
n.198-30G>C
c.2990-30G>C (n.2990-30G>C)
n.3286-30G>C
 gnomAD v4
2g.71570571A=CA1260104041DYSFc.458-28A= (n.458-28A=)
c.3032-28A= (n.3032-28A=)
c.3086-28A= (n.3086-28A=)
c.3035-28A= (n.3035-28A=)
c.3083-28A= (n.3083-28A=)
c.3128-28A= (n.3128-28A=)
c.2993-28A= (n.2993-28A=)
c.3125-28A= (n.3125-28A=)
n.198-28A=
c.2990-28A= (n.2990-28A=)
n.3286-28A=
2g.71570571A>CCA1706406DYSFc.458-28A>C (n.458-28A>C)
c.3032-28A>C (n.3032-28A>C)
c.3086-28A>C (n.3086-28A>C)
c.3035-28A>C (n.3035-28A>C)
c.3083-28A>C (n.3083-28A>C)
c.3128-28A>C (n.3128-28A>C)
c.2993-28A>C (n.2993-28A>C)
c.3125-28A>C (n.3125-28A>C)
n.198-28A>C
c.2990-28A>C (n.2990-28A>C)
n.3286-28A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570571A>GCA1260104042DYSFc.458-28A>G (n.458-28A>G)
c.3032-28A>G (n.3032-28A>G)
c.3086-28A>G (n.3086-28A>G)
c.3035-28A>G (n.3035-28A>G)
c.3083-28A>G (n.3083-28A>G)
c.3128-28A>G (n.3128-28A>G)
c.2993-28A>G (n.2993-28A>G)
c.3125-28A>G (n.3125-28A>G)
n.198-28A>G
c.2990-28A>G (n.2990-28A>G)
n.3286-28A>G
 dbSNP gnomAD v4
2g.71570572A>GCA2659549595DYSFc.458-27A>G (n.458-27A>G)
c.3032-27A>G (n.3032-27A>G)
c.3086-27A>G (n.3086-27A>G)
c.3035-27A>G (n.3035-27A>G)
c.3083-27A>G (n.3083-27A>G)
c.3128-27A>G (n.3128-27A>G)
c.2993-27A>G (n.2993-27A>G)
c.3125-27A>G (n.3125-27A>G)
n.198-27A>G
c.2990-27A>G (n.2990-27A>G)
n.3286-27A>G
 gnomAD v4
2g.71570573T>ACA2577000236DYSFc.458-26T>A (n.458-26T>A)
c.3032-26T>A (n.3032-26T>A)
c.3086-26T>A (n.3086-26T>A)
c.3035-26T>A (n.3035-26T>A)
c.3083-26T>A (n.3083-26T>A)
c.3128-26T>A (n.3128-26T>A)
c.2993-26T>A (n.2993-26T>A)
c.3125-26T>A (n.3125-26T>A)
n.198-26T>A
c.2990-26T>A (n.2990-26T>A)
n.3286-26T>A
 gnomAD v4
2g.71570576_71570579delCA2659549596DYSFc.458-23_458-20del (n.458-23_458-20del)
c.3032-23_3032-20del (n.3032-23_3032-20del)
c.3086-23_3086-20del (n.3086-23_3086-20del)
c.3035-23_3035-20del (n.3035-23_3035-20del)
c.3083-23_3083-20del (n.3083-23_3083-20del)
c.3128-23_3128-20del (n.3128-23_3128-20del)
c.2993-23_2993-20del (n.2993-23_2993-20del)
c.3125-23_3125-20del (n.3125-23_3125-20del)
n.198-23_198-20del
c.2990-23_2990-20del (n.2990-23_2990-20del)
n.3286-23_3286-20del
 gnomAD v4
2g.71570574G>CCA2659549597DYSFc.458-25G>C (n.458-25G>C)
c.3032-25G>C (n.3032-25G>C)
c.3086-25G>C (n.3086-25G>C)
c.3035-25G>C (n.3035-25G>C)
c.3083-25G>C (n.3083-25G>C)
c.3128-25G>C (n.3128-25G>C)
c.2993-25G>C (n.2993-25G>C)
c.3125-25G>C (n.3125-25G>C)
n.198-25G>C
c.2990-25G>C (n.2990-25G>C)
n.3286-25G>C
 gnomAD v4
2g.71570574G>TCA2659549599DYSFc.458-25G>T (n.458-25G>T)
c.3032-25G>T (n.3032-25G>T)
c.3086-25G>T (n.3086-25G>T)
c.3035-25G>T (n.3035-25G>T)
c.3083-25G>T (n.3083-25G>T)
c.3128-25G>T (n.3128-25G>T)
c.2993-25G>T (n.2993-25G>T)
c.3125-25G>T (n.3125-25G>T)
n.198-25G>T
c.2990-25G>T (n.2990-25G>T)
n.3286-25G>T
 gnomAD v4
2g.71570576G>ACA2659549601DYSFc.458-23G>A (n.458-23G>A)
c.3032-23G>A (n.3032-23G>A)
c.3086-23G>A (n.3086-23G>A)
c.3035-23G>A (n.3035-23G>A)
c.3083-23G>A (n.3083-23G>A)
c.3128-23G>A (n.3128-23G>A)
c.2993-23G>A (n.2993-23G>A)
c.3125-23G>A (n.3125-23G>A)
n.198-23G>A
c.2990-23G>A (n.2990-23G>A)
n.3286-23G>A
 gnomAD v4
2g.71570576G>CCA2577000237DYSFc.458-23G>C (n.458-23G>C)
c.3032-23G>C (n.3032-23G>C)
c.3086-23G>C (n.3086-23G>C)
c.3035-23G>C (n.3035-23G>C)
c.3083-23G>C (n.3083-23G>C)
c.3128-23G>C (n.3128-23G>C)
c.2993-23G>C (n.2993-23G>C)
c.3125-23G>C (n.3125-23G>C)
n.198-23G>C
c.2990-23G>C (n.2990-23G>C)
n.3286-23G>C
2g.71570578G>CCA1706407DYSFc.458-21G>C (n.458-21G>C)
c.3032-21G>C (n.3032-21G>C)
c.3086-21G>C (n.3086-21G>C)
c.3035-21G>C (n.3035-21G>C)
c.3083-21G>C (n.3083-21G>C)
c.3128-21G>C (n.3128-21G>C)
c.2993-21G>C (n.2993-21G>C)
c.3125-21G>C (n.3125-21G>C)
n.198-21G>C
c.2990-21G>C (n.2990-21G>C)
n.3286-21G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71570578G=CA1260104043DYSFc.458-21G= (n.458-21G=)
c.3032-21G= (n.3032-21G=)
c.3086-21G= (n.3086-21G=)
c.3035-21G= (n.3035-21G=)
c.3083-21G= (n.3083-21G=)
c.3128-21G= (n.3128-21G=)
c.2993-21G= (n.2993-21G=)
c.3125-21G= (n.3125-21G=)
n.198-21G=
c.2990-21G= (n.2990-21G=)
n.3286-21G=
2g.71570578G>TCA533655743DYSFc.458-21G>T (n.458-21G>T)
c.3032-21G>T (n.3032-21G>T)
c.3086-21G>T (n.3086-21G>T)
c.3035-21G>T (n.3035-21G>T)
c.3083-21G>T (n.3083-21G>T)
c.3128-21G>T (n.3128-21G>T)
c.2993-21G>T (n.2993-21G>T)
c.3125-21G>T (n.3125-21G>T)
n.198-21G>T
c.2990-21G>T (n.2990-21G>T)
n.3286-21G>T
 dbSNP gnomAD v2 gnomAD v4
2g.71570579A>TCA2659549602DYSFc.458-20A>T (n.458-20A>T)
c.3032-20A>T (n.3032-20A>T)
c.3086-20A>T (n.3086-20A>T)
c.3035-20A>T (n.3035-20A>T)
c.3083-20A>T (n.3083-20A>T)
c.3128-20A>T (n.3128-20A>T)
c.2993-20A>T (n.2993-20A>T)
c.3125-20A>T (n.3125-20A>T)
n.198-20A>T
c.2990-20A>T (n.2990-20A>T)
n.3286-20A>T
 gnomAD v4
2g.71570579_71570580delinsACCA1260104044DYSFc.458-20_458-19delinsAC (n.458-20_458-19delinsAC)
c.3032-20_3032-19delinsAC (n.3032-20_3032-19delinsAC)
c.3086-20_3086-19delinsAC (n.3086-20_3086-19delinsAC)
c.3035-20_3035-19delinsAC (n.3035-20_3035-19delinsAC)
c.3083-20_3083-19delinsAC (n.3083-20_3083-19delinsAC)
c.3128-20_3128-19delinsAC (n.3128-20_3128-19delinsAC)
c.2993-20_2993-19delinsAC (n.2993-20_2993-19delinsAC)
c.3125-20_3125-19delinsAC (n.3125-20_3125-19delinsAC)
n.198-20_198-19delinsAC
c.2990-20_2990-19delinsAC (n.2990-20_2990-19delinsAC)
n.3286-20_3286-19delinsAC
2g.71570580C>ACA1706409DYSFc.458-19C>A (n.458-19C>A)
c.3032-19C>A (n.3032-19C>A)
c.3086-19C>A (n.3086-19C>A)
c.3035-19C>A (n.3035-19C>A)
c.3083-19C>A (n.3083-19C>A)
c.3128-19C>A (n.3128-19C>A)
c.2993-19C>A (n.2993-19C>A)
c.3125-19C>A (n.3125-19C>A)
n.198-19C>A
c.2990-19C>A (n.2990-19C>A)
n.3286-19C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570580C=CA1260104045DYSFc.458-19C= (n.458-19C=)
c.3032-19C= (n.3032-19C=)
c.3086-19C= (n.3086-19C=)
c.3035-19C= (n.3035-19C=)
c.3083-19C= (n.3083-19C=)
c.3128-19C= (n.3128-19C=)
c.2993-19C= (n.2993-19C=)
c.3125-19C= (n.3125-19C=)
n.198-19C=
c.2990-19C= (n.2990-19C=)
n.3286-19C=
2g.71570580C>TCA2659549603DYSFc.458-19C>T (n.458-19C>T)
c.3032-19C>T (n.3032-19C>T)
c.3086-19C>T (n.3086-19C>T)
c.3035-19C>T (n.3035-19C>T)
c.3083-19C>T (n.3083-19C>T)
c.3128-19C>T (n.3128-19C>T)
c.2993-19C>T (n.2993-19C>T)
c.3125-19C>T (n.3125-19C>T)
n.198-19C>T
c.2990-19C>T (n.2990-19C>T)
n.3286-19C>T
 gnomAD v4
2g.71570581delCA1706408DYSFc.458-18del (n.458-18del)
c.3032-18del (n.3032-18del)
c.3086-18del (n.3086-18del)
c.3035-18del (n.3035-18del)
c.3083-18del (n.3083-18del)
c.3128-18del (n.3128-18del)
c.2993-18del (n.2993-18del)
c.3125-18del (n.3125-18del)
n.198-18del
c.2990-18del (n.2990-18del)
n.3286-18del
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71570581C>ACA1706411DYSFc.458-18C>A (n.458-18C>A)
c.3032-18C>A (n.3032-18C>A)
c.3086-18C>A (n.3086-18C>A)
c.3035-18C>A (n.3035-18C>A)
c.3083-18C>A (n.3083-18C>A)
c.3128-18C>A (n.3128-18C>A)
c.2993-18C>A (n.2993-18C>A)
c.3125-18C>A (n.3125-18C>A)
n.198-18C>A
c.2990-18C>A (n.2990-18C>A)
n.3286-18C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570581C=CA1260104046DYSFc.458-18C= (n.458-18C=)
c.3032-18C= (n.3032-18C=)
c.3086-18C= (n.3086-18C=)
c.3035-18C= (n.3035-18C=)
c.3083-18C= (n.3083-18C=)
c.3128-18C= (n.3128-18C=)
c.2993-18C= (n.2993-18C=)
c.3125-18C= (n.3125-18C=)
n.198-18C=
c.2990-18C= (n.2990-18C=)
n.3286-18C=
2g.71570581C>TCA1706410DYSFc.458-18C>T (n.458-18C>T)
c.3032-18C>T (n.3032-18C>T)
c.3086-18C>T (n.3086-18C>T)
c.3035-18C>T (n.3035-18C>T)
c.3083-18C>T (n.3083-18C>T)
c.3128-18C>T (n.3128-18C>T)
c.2993-18C>T (n.2993-18C>T)
c.3125-18C>T (n.3125-18C>T)
n.198-18C>T
c.2990-18C>T (n.2990-18C>T)
n.3286-18C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570582G>ACA147742DYSFc.458-17G>A (n.458-17G>A)
c.3032-17G>A (n.3032-17G>A)
c.3086-17G>A (n.3086-17G>A)
c.3035-17G>A (n.3035-17G>A)
c.3083-17G>A (n.3083-17G>A)
c.3128-17G>A (n.3128-17G>A)
c.2993-17G>A (n.2993-17G>A)
c.3125-17G>A (n.3125-17G>A)
n.198-17G>A
c.2990-17G>A (n.2990-17G>A)
n.3286-17G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570582G>CCA2581777583DYSFc.458-17G>C (n.458-17G>C)
c.3032-17G>C (n.3032-17G>C)
c.3086-17G>C (n.3086-17G>C)
c.3035-17G>C (n.3035-17G>C)
c.3083-17G>C (n.3083-17G>C)
c.3128-17G>C (n.3128-17G>C)
c.2993-17G>C (n.2993-17G>C)
c.3125-17G>C (n.3125-17G>C)
n.198-17G>C
c.2990-17G>C (n.2990-17G>C)
n.3286-17G>C
 gnomAD v4
2g.71570582G=CA1260104047DYSFc.458-17G= (n.458-17G=)
c.3032-17G= (n.3032-17G=)
c.3086-17G= (n.3086-17G=)
c.3035-17G= (n.3035-17G=)
c.3083-17G= (n.3083-17G=)
c.3128-17G= (n.3128-17G=)
c.2993-17G= (n.2993-17G=)
c.3125-17G= (n.3125-17G=)
n.198-17G=
c.2990-17G= (n.2990-17G=)
n.3286-17G=
2g.71570582G>TCA222149DYSFc.458-17G>T (n.458-17G>T)
c.3032-17G>T (n.3032-17G>T)
c.3086-17G>T (n.3086-17G>T)
c.3035-17G>T (n.3035-17G>T)
c.3083-17G>T (n.3083-17G>T)
c.3128-17G>T (n.3128-17G>T)
c.2993-17G>T (n.2993-17G>T)
c.3125-17G>T (n.3125-17G>T)
n.198-17G>T
c.2990-17G>T (n.2990-17G>T)
n.3286-17G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71570583G=CA1260104048DYSFc.458-16G= (n.458-16G=)
c.3032-16G= (n.3032-16G=)
c.3086-16G= (n.3086-16G=)
c.3035-16G= (n.3035-16G=)
c.3083-16G= (n.3083-16G=)
c.3128-16G= (n.3128-16G=)
c.2993-16G= (n.2993-16G=)
c.3125-16G= (n.3125-16G=)
n.198-16G=
c.2990-16G= (n.2990-16G=)
n.3286-16G=
2g.71570583G>TCA1706412DYSFc.458-16G>T (n.458-16G>T)
c.3032-16G>T (n.3032-16G>T)
c.3086-16G>T (n.3086-16G>T)
c.3035-16G>T (n.3035-16G>T)
c.3083-16G>T (n.3083-16G>T)
c.3128-16G>T (n.3128-16G>T)
c.2993-16G>T (n.2993-16G>T)
c.3125-16G>T (n.3125-16G>T)
n.198-16G>T
c.2990-16G>T (n.2990-16G>T)
n.3286-16G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570584T>CCA1260104049DYSFc.458-15T>C (n.458-15T>C)
c.3032-15T>C (n.3032-15T>C)
c.3086-15T>C (n.3086-15T>C)
c.3035-15T>C (n.3035-15T>C)
c.3083-15T>C (n.3083-15T>C)
c.3128-15T>C (n.3128-15T>C)
c.2993-15T>C (n.2993-15T>C)
c.3125-15T>C (n.3125-15T>C)
n.198-15T>C
c.2990-15T>C (n.2990-15T>C)
n.3286-15T>C
 dbSNP
2g.71570584T=CA1260104050DYSFc.458-15T= (n.458-15T=)
c.3032-15T= (n.3032-15T=)
c.3086-15T= (n.3086-15T=)
c.3035-15T= (n.3035-15T=)
c.3083-15T= (n.3083-15T=)
c.3128-15T= (n.3128-15T=)
c.2993-15T= (n.2993-15T=)
c.3125-15T= (n.3125-15T=)
n.198-15T=
c.2990-15T= (n.2990-15T=)
n.3286-15T=
2g.71570585T>CCA1260104052DYSFc.458-14T>C (n.458-14T>C)
c.3032-14T>C (n.3032-14T>C)
c.3086-14T>C (n.3086-14T>C)
c.3035-14T>C (n.3035-14T>C)
c.3083-14T>C (n.3083-14T>C)
c.3128-14T>C (n.3128-14T>C)
c.2993-14T>C (n.2993-14T>C)
c.3125-14T>C (n.3125-14T>C)
n.198-14T>C
c.2990-14T>C (n.2990-14T>C)
n.3286-14T>C
 dbSNP
2g.71570585T=CA1260104051DYSFc.458-14T= (n.458-14T=)
c.3032-14T= (n.3032-14T=)
c.3086-14T= (n.3086-14T=)
c.3035-14T= (n.3035-14T=)
c.3083-14T= (n.3083-14T=)
c.3128-14T= (n.3128-14T=)
c.2993-14T= (n.2993-14T=)
c.3125-14T= (n.3125-14T=)
n.198-14T=
c.2990-14T= (n.2990-14T=)
n.3286-14T=
2g.71570586C>ACA2659549611DYSFc.458-13C>A (n.458-13C>A)
c.3032-13C>A (n.3032-13C>A)
c.3086-13C>A (n.3086-13C>A)
c.3035-13C>A (n.3035-13C>A)
c.3083-13C>A (n.3083-13C>A)
c.3128-13C>A (n.3128-13C>A)
c.2993-13C>A (n.2993-13C>A)
c.3125-13C>A (n.3125-13C>A)
n.198-13C>A
c.2990-13C>A (n.2990-13C>A)
n.3286-13C>A
 gnomAD v4
2g.71570586C=CA1260104053DYSFc.458-13C= (n.458-13C=)
c.3032-13C= (n.3032-13C=)
c.3086-13C= (n.3086-13C=)
c.3035-13C= (n.3035-13C=)
c.3083-13C= (n.3083-13C=)
c.3128-13C= (n.3128-13C=)
c.2993-13C= (n.2993-13C=)
c.3125-13C= (n.3125-13C=)
n.198-13C=
c.2990-13C= (n.2990-13C=)
n.3286-13C=
2g.71570586C>GCA1706414DYSFc.458-13C>G (n.458-13C>G)
c.3032-13C>G (n.3032-13C>G)
c.3086-13C>G (n.3086-13C>G)
c.3035-13C>G (n.3035-13C>G)
c.3083-13C>G (n.3083-13C>G)
c.3128-13C>G (n.3128-13C>G)
c.2993-13C>G (n.2993-13C>G)
c.3125-13C>G (n.3125-13C>G)
n.198-13C>G
c.2990-13C>G (n.2990-13C>G)
n.3286-13C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570586C>TCA1706413DYSFc.458-13C>T (n.458-13C>T)
c.3032-13C>T (n.3032-13C>T)
c.3086-13C>T (n.3086-13C>T)
c.3035-13C>T (n.3035-13C>T)
c.3083-13C>T (n.3083-13C>T)
c.3128-13C>T (n.3128-13C>T)
c.2993-13C>T (n.2993-13C>T)
c.3125-13C>T (n.3125-13C>T)
n.198-13C>T
c.2990-13C>T (n.2990-13C>T)
n.3286-13C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570590delCA2659549610DYSFc.458-9del (n.458-9del)
c.3032-9del (n.3032-9del)
c.3086-9del (n.3086-9del)
c.3035-9del (n.3035-9del)
c.3083-9del (n.3083-9del)
c.3128-9del (n.3128-9del)
c.2993-9del (n.2993-9del)
c.3125-9del (n.3125-9del)
n.198-9del
c.2990-9del (n.2990-9del)
n.3286-9del
 gnomAD v4
2g.71570587C=CA1260104054DYSFc.458-12C= (n.458-12C=)
c.3032-12C= (n.3032-12C=)
c.3086-12C= (n.3086-12C=)
c.3035-12C= (n.3035-12C=)
c.3083-12C= (n.3083-12C=)
c.3128-12C= (n.3128-12C=)
c.2993-12C= (n.2993-12C=)
c.3125-12C= (n.3125-12C=)
n.198-12C=
c.2990-12C= (n.2990-12C=)
n.3286-12C=
2g.71570587C>GCA2659549614DYSFc.458-12C>G (n.458-12C>G)
c.3032-12C>G (n.3032-12C>G)
c.3086-12C>G (n.3086-12C>G)
c.3035-12C>G (n.3035-12C>G)
c.3083-12C>G (n.3083-12C>G)
c.3128-12C>G (n.3128-12C>G)
c.2993-12C>G (n.2993-12C>G)
c.3125-12C>G (n.3125-12C>G)
n.198-12C>G
c.2990-12C>G (n.2990-12C>G)
n.3286-12C>G
 gnomAD v4
2g.71570587C>TCA533655744DYSFc.458-12C>T (n.458-12C>T)
c.3032-12C>T (n.3032-12C>T)
c.3086-12C>T (n.3086-12C>T)
c.3035-12C>T (n.3035-12C>T)
c.3083-12C>T (n.3083-12C>T)
c.3128-12C>T (n.3128-12C>T)
c.2993-12C>T (n.2993-12C>T)
c.3125-12C>T (n.3125-12C>T)
n.198-12C>T
c.2990-12C>T (n.2990-12C>T)
n.3286-12C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71570588C=CA1260104055DYSFc.458-11C= (n.458-11C=)
c.3032-11C= (n.3032-11C=)
c.3086-11C= (n.3086-11C=)
c.3035-11C= (n.3035-11C=)
c.3083-11C= (n.3083-11C=)
c.3128-11C= (n.3128-11C=)
c.2993-11C= (n.2993-11C=)
c.3125-11C= (n.3125-11C=)
n.198-11C=
c.2990-11C= (n.2990-11C=)
n.3286-11C=
2g.71570588C>GCA1706415DYSFc.458-11C>G (n.458-11C>G)
c.3032-11C>G (n.3032-11C>G)
c.3086-11C>G (n.3086-11C>G)
c.3035-11C>G (n.3035-11C>G)
c.3083-11C>G (n.3083-11C>G)
c.3128-11C>G (n.3128-11C>G)
c.2993-11C>G (n.2993-11C>G)
c.3125-11C>G (n.3125-11C>G)
n.198-11C>G
c.2990-11C>G (n.2990-11C>G)
n.3286-11C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570588C>TCA892700347DYSFc.458-11C>T (n.458-11C>T)
c.3032-11C>T (n.3032-11C>T)
c.3086-11C>T (n.3086-11C>T)
c.3035-11C>T (n.3035-11C>T)
c.3083-11C>T (n.3083-11C>T)
c.3128-11C>T (n.3128-11C>T)
c.2993-11C>T (n.2993-11C>T)
c.3125-11C>T (n.3125-11C>T)
n.198-11C>T
c.2990-11C>T (n.2990-11C>T)
n.3286-11C>T
 dbSNP gnomAD v3 gnomAD v4
2g.71570589C=CA1260104056DYSFc.458-10C= (n.458-10C=)
c.3032-10C= (n.3032-10C=)
c.3086-10C= (n.3086-10C=)
c.3035-10C= (n.3035-10C=)
c.3083-10C= (n.3083-10C=)
c.3128-10C= (n.3128-10C=)
c.2993-10C= (n.2993-10C=)
c.3125-10C= (n.3125-10C=)
n.198-10C=
c.2990-10C= (n.2990-10C=)
n.3286-10C=
2g.71570589C>GCA533655745DYSFc.458-10C>G (n.458-10C>G)
c.3032-10C>G (n.3032-10C>G)
c.3086-10C>G (n.3086-10C>G)
c.3035-10C>G (n.3035-10C>G)
c.3083-10C>G (n.3083-10C>G)
c.3128-10C>G (n.3128-10C>G)
c.2993-10C>G (n.2993-10C>G)
c.3125-10C>G (n.3125-10C>G)
n.198-10C>G
c.2990-10C>G (n.2990-10C>G)
n.3286-10C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71570589C>TCA49746569DYSFc.458-10C>T (n.458-10C>T)
c.3032-10C>T (n.3032-10C>T)
c.3086-10C>T (n.3086-10C>T)
c.3035-10C>T (n.3035-10C>T)
c.3083-10C>T (n.3083-10C>T)
c.3128-10C>T (n.3128-10C>T)
c.2993-10C>T (n.2993-10C>T)
c.3125-10C>T (n.3125-10C>T)
n.198-10C>T
c.2990-10C>T (n.2990-10C>T)
n.3286-10C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71570590C>ACA1706416DYSFc.458-9C>A (n.458-9C>A)
c.3032-9C>A (n.3032-9C>A)
c.3086-9C>A (n.3086-9C>A)
c.3035-9C>A (n.3035-9C>A)
c.3083-9C>A (n.3083-9C>A)
c.3128-9C>A (n.3128-9C>A)
c.2993-9C>A (n.2993-9C>A)
c.3125-9C>A (n.3125-9C>A)
n.198-9C>A
c.2990-9C>A (n.2990-9C>A)
n.3286-9C>A
 ClinVar dbSNP ExAC gnomAD v4
2g.71570590C=CA1260104057DYSFc.458-9C= (n.458-9C=)
c.3032-9C= (n.3032-9C=)
c.3086-9C= (n.3086-9C=)
c.3035-9C= (n.3035-9C=)
c.3083-9C= (n.3083-9C=)
c.3128-9C= (n.3128-9C=)
c.2993-9C= (n.2993-9C=)
c.3125-9C= (n.3125-9C=)
n.198-9C=
c.2990-9C= (n.2990-9C=)
n.3286-9C=
2g.71570590C>TCA243042DYSFc.458-9C>T (n.458-9C>T)
c.3032-9C>T (n.3032-9C>T)
c.3086-9C>T (n.3086-9C>T)
c.3035-9C>T (n.3035-9C>T)
c.3083-9C>T (n.3083-9C>T)
c.3128-9C>T (n.3128-9C>T)
c.2993-9C>T (n.2993-9C>T)
c.3125-9C>T (n.3125-9C>T)
n.198-9C>T
c.2990-9C>T (n.2990-9C>T)
n.3286-9C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570592C>ACA1706417DYSFc.458-7C>A (n.458-7C>A)
c.3032-7C>A (n.3032-7C>A)
c.3086-7C>A (n.3086-7C>A)
c.3035-7C>A (n.3035-7C>A)
c.3083-7C>A (n.3083-7C>A)
c.3128-7C>A (n.3128-7C>A)
c.2993-7C>A (n.2993-7C>A)
c.3125-7C>A (n.3125-7C>A)
n.198-7C>A
c.2990-7C>A (n.2990-7C>A)
n.3286-7C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71570592C=CA1260104058DYSFc.458-7C= (n.458-7C=)
c.3032-7C= (n.3032-7C=)
c.3086-7C= (n.3086-7C=)
c.3035-7C= (n.3035-7C=)
c.3083-7C= (n.3083-7C=)
c.3128-7C= (n.3128-7C=)
c.2993-7C= (n.2993-7C=)
c.3125-7C= (n.3125-7C=)
n.198-7C=
c.2990-7C= (n.2990-7C=)
n.3286-7C=
2g.71570592C>TCA1032076604DYSFc.458-7C>T (n.458-7C>T)
c.3032-7C>T (n.3032-7C>T)
c.3086-7C>T (n.3086-7C>T)
c.3035-7C>T (n.3035-7C>T)
c.3083-7C>T (n.3083-7C>T)
c.3128-7C>T (n.3128-7C>T)
c.2993-7C>T (n.2993-7C>T)
c.3125-7C>T (n.3125-7C>T)
n.198-7C>T
c.2990-7C>T (n.2990-7C>T)
n.3286-7C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.71570596delCA2659549617DYSFc.458-3del (n.458-3del)
c.3032-3del (n.3032-3del)
c.3086-3del (n.3086-3del)
c.3035-3del (n.3035-3del)
c.3083-3del (n.3083-3del)
c.3128-3del (n.3128-3del)
c.2993-3del (n.2993-3del)
c.3125-3del (n.3125-3del)
n.198-3del
c.2990-3del (n.2990-3del)
n.3286-3del
 gnomAD v4
2g.71570593C=CA1260104059DYSFc.458-6C= (n.458-6C=)
c.3032-6C= (n.3032-6C=)
c.3086-6C= (n.3086-6C=)
c.3035-6C= (n.3035-6C=)
c.3083-6C= (n.3083-6C=)
c.3128-6C= (n.3128-6C=)
c.2993-6C= (n.2993-6C=)
c.3125-6C= (n.3125-6C=)
n.198-6C=
c.2990-6C= (n.2990-6C=)
n.3286-6C=
2g.71570593C>TCA1706418DYSFc.458-6C>T (n.458-6C>T)
c.3032-6C>T (n.3032-6C>T)
c.3086-6C>T (n.3086-6C>T)
c.3035-6C>T (n.3035-6C>T)
c.3083-6C>T (n.3083-6C>T)
c.3128-6C>T (n.3128-6C>T)
c.2993-6C>T (n.2993-6C>T)
c.3125-6C>T (n.3125-6C>T)
n.198-6C>T
c.2990-6C>T (n.2990-6C>T)
n.3286-6C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71570594C>ACA2659549618DYSFc.458-5C>A (n.458-5C>A)
c.3032-5C>A (n.3032-5C>A)
c.3086-5C>A (n.3086-5C>A)
c.3035-5C>A (n.3035-5C>A)
c.3083-5C>A (n.3083-5C>A)
c.3128-5C>A (n.3128-5C>A)
c.2993-5C>A (n.2993-5C>A)
c.3125-5C>A (n.3125-5C>A)
n.198-5C>A
c.2990-5C>A (n.2990-5C>A)
n.3286-5C>A
 gnomAD v4
2g.71570595C>ACA2659549619DYSFc.458-4C>A (n.458-4C>A)
c.3032-4C>A (n.3032-4C>A)
c.3086-4C>A (n.3086-4C>A)
c.3035-4C>A (n.3035-4C>A)
c.3083-4C>A (n.3083-4C>A)
c.3128-4C>A (n.3128-4C>A)
c.2993-4C>A (n.2993-4C>A)
c.3125-4C>A (n.3125-4C>A)
n.198-4C>A
c.2990-4C>A (n.2990-4C>A)
n.3286-4C>A
 gnomAD v4
2g.71570595C=CA1260104060DYSFc.458-4C= (n.458-4C=)
c.3032-4C= (n.3032-4C=)
c.3086-4C= (n.3086-4C=)
c.3035-4C= (n.3035-4C=)
c.3083-4C= (n.3083-4C=)
c.3128-4C= (n.3128-4C=)
c.2993-4C= (n.2993-4C=)
c.3125-4C= (n.3125-4C=)
n.198-4C=
c.2990-4C= (n.2990-4C=)
n.3286-4C=
2g.71570595C>TCA1032076610DYSFc.458-4C>T (n.458-4C>T)
c.3032-4C>T (n.3032-4C>T)
c.3086-4C>T (n.3086-4C>T)
c.3035-4C>T (n.3035-4C>T)
c.3083-4C>T (n.3083-4C>T)
c.3128-4C>T (n.3128-4C>T)
c.2993-4C>T (n.2993-4C>T)
c.3125-4C>T (n.3125-4C>T)
n.198-4C>T
c.2990-4C>T (n.2990-4C>T)
n.3286-4C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.71570596C>ACA1706419DYSFc.458-3C>A (n.458-3C>A)
c.3032-3C>A (n.3032-3C>A)
c.3086-3C>A (n.3086-3C>A)
c.3035-3C>A (n.3035-3C>A)
c.3083-3C>A (n.3083-3C>A)
c.3128-3C>A (n.3128-3C>A)
c.2993-3C>A (n.2993-3C>A)
c.3125-3C>A (n.3125-3C>A)
n.198-3C>A
c.2990-3C>A (n.2990-3C>A)
n.3286-3C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71570596C=CA1260104061DYSFc.458-3C= (n.458-3C=)
c.3032-3C= (n.3032-3C=)
c.3086-3C= (n.3086-3C=)
c.3035-3C= (n.3035-3C=)
c.3083-3C= (n.3083-3C=)
c.3128-3C= (n.3128-3C=)
c.2993-3C= (n.2993-3C=)
c.3125-3C= (n.3125-3C=)
n.198-3C=
c.2990-3C= (n.2990-3C=)
n.3286-3C=
2g.71570596C>GCA2586969475DYSFc.458-3C>G (n.458-3C>G)
c.3032-3C>G (n.3032-3C>G)
c.3086-3C>G (n.3086-3C>G)
c.3035-3C>G (n.3035-3C>G)
c.3083-3C>G (n.3083-3C>G)
c.3128-3C>G (n.3128-3C>G)
c.2993-3C>G (n.2993-3C>G)
c.3125-3C>G (n.3125-3C>G)
n.198-3C>G
c.2990-3C>G (n.2990-3C>G)
n.3286-3C>G
2g.71570596C>TCA1706420DYSFc.458-3C>T (n.458-3C>T)
c.3032-3C>T (n.3032-3C>T)
c.3086-3C>T (n.3086-3C>T)
c.3035-3C>T (n.3035-3C>T)
c.3083-3C>T (n.3083-3C>T)
c.3128-3C>T (n.3128-3C>T)
c.2993-3C>T (n.2993-3C>T)
c.3125-3C>T (n.3125-3C>T)
n.198-3C>T
c.2990-3C>T (n.2990-3C>T)
n.3286-3C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71570597A=CA1260104062DYSFc.458-2A= (n.458-2A=)
c.3032-2A= (n.3032-2A=)
c.3086-2A= (n.3086-2A=)
c.3035-2A= (n.3035-2A=)
c.3083-2A= (n.3083-2A=)
c.3128-2A= (n.3128-2A=)
c.2993-2A= (n.2993-2A=)
c.3125-2A= (n.3125-2A=)
n.198-2A=
c.2990-2A= (n.2990-2A=)
n.3286-2A=
2g.71570597A>CCA347216879DYSFc.458-2A>C (n.458-2A>C)
c.3032-2A>C (n.3032-2A>C)
c.3086-2A>C (n.3086-2A>C)
c.3035-2A>C (n.3035-2A>C)
c.3083-2A>C (n.3083-2A>C)
c.3128-2A>C (n.3128-2A>C)
c.2993-2A>C (n.2993-2A>C)
c.3125-2A>C (n.3125-2A>C)
n.198-2A>C
c.2990-2A>C (n.2990-2A>C)
n.3286-2A>C
2g.71570597A>GCA347216880DYSFc.458-2A>G (n.458-2A>G)
c.3032-2A>G (n.3032-2A>G)
c.3086-2A>G (n.3086-2A>G)
c.3035-2A>G (n.3035-2A>G)
c.3083-2A>G (n.3083-2A>G)
c.3128-2A>G (n.3128-2A>G)
c.2993-2A>G (n.2993-2A>G)
c.3125-2A>G (n.3125-2A>G)
n.198-2A>G
c.2990-2A>G (n.2990-2A>G)
n.3286-2A>G
 ClinVar dbSNP gnomAD v4
2g.71570597A>TCA347216881DYSFc.458-2A>T (n.458-2A>T)
c.3032-2A>T (n.3032-2A>T)
c.3086-2A>T (n.3086-2A>T)
c.3035-2A>T (n.3035-2A>T)
c.3083-2A>T (n.3083-2A>T)
c.3128-2A>T (n.3128-2A>T)
c.2993-2A>T (n.2993-2A>T)
c.3125-2A>T (n.3125-2A>T)
n.198-2A>T
c.2990-2A>T (n.2990-2A>T)
n.3286-2A>T
2g.71570598G>ACA347216882DYSFc.458-1G>A (n.458-1G>A)
c.3032-1G>A (n.3032-1G>A)
c.3086-1G>A (n.3086-1G>A)
c.3035-1G>A (n.3035-1G>A)
c.3083-1G>A (n.3083-1G>A)
c.3128-1G>A (n.3128-1G>A)
c.2993-1G>A (n.2993-1G>A)
c.3125-1G>A (n.3125-1G>A)
n.198-1G>A
c.2990-1G>A (n.2990-1G>A)
n.3286-1G>A
 dbSNP gnomAD v2 gnomAD v4
2g.71570598G>CCA347216883DYSFc.458-1G>C (n.458-1G>C)
c.3032-1G>C (n.3032-1G>C)
c.3086-1G>C (n.3086-1G>C)
c.3035-1G>C (n.3035-1G>C)
c.3083-1G>C (n.3083-1G>C)
c.3128-1G>C (n.3128-1G>C)
c.2993-1G>C (n.2993-1G>C)
c.3125-1G>C (n.3125-1G>C)
n.198-1G>C
c.2990-1G>C (n.2990-1G>C)
n.3286-1G>C
2g.71570598G=CA1260104063DYSFc.458-1G= (n.458-1G=)
c.3032-1G= (n.3032-1G=)
c.3086-1G= (n.3086-1G=)
c.3035-1G= (n.3035-1G=)
c.3083-1G= (n.3083-1G=)
c.3128-1G= (n.3128-1G=)
c.2993-1G= (n.2993-1G=)
c.3125-1G= (n.3125-1G=)
n.198-1G=
c.2990-1G= (n.2990-1G=)
n.3286-1G=
2g.71570598G>TCA347216884DYSFc.458-1G>T (n.458-1G>T)
c.3032-1G>T (n.3032-1G>T)
c.3086-1G>T (n.3086-1G>T)
c.3035-1G>T (n.3035-1G>T)
c.3083-1G>T (n.3083-1G>T)
c.3128-1G>T (n.3128-1G>T)
c.2993-1G>T (n.2993-1G>T)
c.3125-1G>T (n.3125-1G>T)
n.198-1G>T
c.2990-1G>T (n.2990-1G>T)
n.3286-1G>T
2g.71570599G>ACA347216885DYSFc.458G>A (p.Gly153Asp)
c.3032G>A (p.Gly1011Asp)
c.3086G>A (p.Gly1029Asp)
c.3035G>A (p.Gly1012Asp)
c.3083G>A (p.Gly1028Asp)
c.3128G>A (p.Gly1043Asp)
c.2993G>A (p.Gly998Asp)
c.3125G>A (p.Gly1042Asp)
n.198G>A
c.2990G>A (p.Gly997Asp)
n.3286G>A
2g.71570599G>CCA347216886DYSFc.458G>C (p.Gly153Ala)
c.3032G>C (p.Gly1011Ala)
c.3086G>C (p.Gly1029Ala)
c.3035G>C (p.Gly1012Ala)
c.3083G>C (p.Gly1028Ala)
c.3128G>C (p.Gly1043Ala)
c.2993G>C (p.Gly998Ala)
c.3125G>C (p.Gly1042Ala)
n.198G>C
c.2990G>C (p.Gly997Ala)
n.3286G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71570599G=CA1260104064DYSFc.458G= (p.Gly153=)
c.3032G= (p.Gly1011=)
c.3086G= (p.Gly1029=)
c.3035G= (p.Gly1012=)
c.3083G= (p.Gly1028=)
c.3128G= (p.Gly1043=)
c.2993G= (p.Gly998=)
c.3125G= (p.Gly1042=)
n.198G=
c.2990G= (p.Gly997=)
n.3286G=
2g.71570599G>TCA347216887DYSFc.458G>T (p.Gly153Val)
c.3032G>T (p.Gly1011Val)
c.3086G>T (p.Gly1029Val)
c.3035G>T (p.Gly1012Val)
c.3083G>T (p.Gly1028Val)
c.3128G>T (p.Gly1043Val)
c.2993G>T (p.Gly998Val)
c.3125G>T (p.Gly1042Val)
n.198G>T
c.2990G>T (p.Gly997Val)
n.3286G>T
2g.71570600C>ACA426702042DYSFc.459C>A (p.Gly153=)
c.3033C>A (p.Gly1011=)
c.3087C>A (p.Gly1029=)
c.3036C>A (p.Gly1012=)
c.3084C>A (p.Gly1028=)
c.3129C>A (p.Gly1043=)
c.2994C>A (p.Gly998=)
c.3126C>A (p.Gly1042=)
n.199C>A
c.2991C>A (p.Gly997=)
n.3287C>A
2g.71570600C=CA1260104065DYSFc.459C= (p.Gly153=)
c.3033C= (p.Gly1011=)
c.3087C= (p.Gly1029=)
c.3036C= (p.Gly1012=)
c.3084C= (p.Gly1028=)
c.3129C= (p.Gly1043=)
c.2994C= (p.Gly998=)
c.3126C= (p.Gly1042=)
n.199C=
c.2991C= (p.Gly997=)
n.3287C=
2g.71570600C>GCA49746598DYSFc.459C>G (p.Gly153=)
c.3033C>G (p.Gly1011=)
c.3087C>G (p.Gly1029=)
c.3036C>G (p.Gly1012=)
c.3084C>G (p.Gly1028=)
c.3129C>G (p.Gly1043=)
c.2994C>G (p.Gly998=)
c.3126C>G (p.Gly1042=)
n.199C>G
c.2991C>G (p.Gly997=)
n.3287C>G
 dbSNP
2g.71570600C>TCA426702043DYSFc.459C>T (p.Gly153=)
c.3033C>T (p.Gly1011=)
c.3087C>T (p.Gly1029=)
c.3036C>T (p.Gly1012=)
c.3084C>T (p.Gly1028=)
c.3129C>T (p.Gly1043=)
c.2994C>T (p.Gly998=)
c.3126C>T (p.Gly1042=)
n.199C>T
c.2991C>T (p.Gly997=)
n.3287C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.71570601T>ACA347216890DYSFc.460T>A (p.Trp154Arg)
c.3034T>A (p.Trp1012Arg)
c.3088T>A (p.Trp1030Arg)
c.3037T>A (p.Trp1013Arg)
c.3085T>A (p.Trp1029Arg)
c.3130T>A (p.Trp1044Arg)
c.2995T>A (p.Trp999Arg)
c.3127T>A (p.Trp1043Arg)
n.200T>A
c.2992T>A (p.Trp998Arg)
n.3288T>A
2g.71570601T>CCA347216889DYSFc.460T>C (p.Trp154Arg)
c.3034T>C (p.Trp1012Arg)
c.3088T>C (p.Trp1030Arg)
c.3037T>C (p.Trp1013Arg)
c.3085T>C (p.Trp1029Arg)
c.3130T>C (p.Trp1044Arg)
c.2995T>C (p.Trp999Arg)
c.3127T>C (p.Trp1043Arg)
n.200T>C
c.2992T>C (p.Trp998Arg)
n.3288T>C
2g.71570601T>GCA347216888DYSFc.460T>G (p.Trp154Gly)
c.3034T>G (p.Trp1012Gly)
c.3088T>G (p.Trp1030Gly)
c.3037T>G (p.Trp1013Gly)
c.3085T>G (p.Trp1029Gly)
c.3130T>G (p.Trp1044Gly)
c.2995T>G (p.Trp999Gly)
c.3127T>G (p.Trp1043Gly)
n.200T>G
c.2992T>G (p.Trp998Gly)
n.3288T>G
2g.71570602G>ACA347216891DYSFc.461G>A (p.Trp154Ter)
c.3035G>A (p.Trp1012Ter)
c.3089G>A (p.Trp1030Ter)
c.3038G>A (p.Trp1013Ter)
c.3086G>A (p.Trp1029Ter)
c.3131G>A (p.Trp1044Ter)
c.2996G>A (p.Trp999Ter)
c.3128G>A (p.Trp1043Ter)
n.201G>A
c.2993G>A (p.Trp998Ter)
n.3289G>A
2g.71570602G>CCA347216892DYSFc.461G>C (p.Trp154Ser)
c.3035G>C (p.Trp1012Ser)
c.3089G>C (p.Trp1030Ser)
c.3038G>C (p.Trp1013Ser)
c.3086G>C (p.Trp1029Ser)
c.3131G>C (p.Trp1044Ser)
c.2996G>C (p.Trp999Ser)
c.3128G>C (p.Trp1043Ser)
n.201G>C
c.2993G>C (p.Trp998Ser)
n.3289G>C
2g.71570602G>TCA347216893DYSFc.461G>T (p.Trp154Leu)
c.3035G>T (p.Trp1012Leu)
c.3089G>T (p.Trp1030Leu)
c.3038G>T (p.Trp1013Leu)
c.3086G>T (p.Trp1029Leu)
c.3131G>T (p.Trp1044Leu)
c.2996G>T (p.Trp999Leu)
c.3128G>T (p.Trp1043Leu)
n.201G>T
c.2993G>T (p.Trp998Leu)
n.3289G>T
 gnomAD v4
2g.71570604delCA2580067854DYSFc.463del (p.Glu155SerfsTer?)
c.3037del (p.Glu1013SerfsTer?)
c.3091del (p.Glu1031SerfsTer?)
c.3040del (p.Glu1014SerfsTer?)
c.3088del (p.Glu1030SerfsTer?)
c.3133del (p.Glu1045SerfsTer?)
c.2998del (p.Glu1000SerfsTer?)
c.3130del (p.Glu1044SerfsTer?)
n.203del
c.2995del (p.Glu999SerfsTer?)
n.3291del
 ClinVar
2g.71570603G>ACA347216894DYSFc.462G>A (p.Trp154Ter)
c.3036G>A (p.Trp1012Ter)
c.3090G>A (p.Trp1030Ter)
c.3039G>A (p.Trp1013Ter)
c.3087G>A (p.Trp1029Ter)
c.3132G>A (p.Trp1044Ter)
c.2997G>A (p.Trp999Ter)
c.3129G>A (p.Trp1043Ter)
n.202G>A
c.2994G>A (p.Trp998Ter)
n.3290G>A
 gnomAD v4
2g.71570603G>CCA347216895DYSFc.462G>C (p.Trp154Cys)
c.3036G>C (p.Trp1012Cys)
c.3090G>C (p.Trp1030Cys)
c.3039G>C (p.Trp1013Cys)
c.3087G>C (p.Trp1029Cys)
c.3132G>C (p.Trp1044Cys)
c.2997G>C (p.Trp999Cys)
c.3129G>C (p.Trp1043Cys)
n.202G>C
c.2994G>C (p.Trp998Cys)
n.3290G>C
2g.71570603G>TCA347216896DYSFc.462G>T (p.Trp154Cys)
c.3036G>T (p.Trp1012Cys)
c.3090G>T (p.Trp1030Cys)
c.3039G>T (p.Trp1013Cys)
c.3087G>T (p.Trp1029Cys)
c.3132G>T (p.Trp1044Cys)
c.2997G>T (p.Trp999Cys)
c.3129G>T (p.Trp1043Cys)
n.202G>T
c.2994G>T (p.Trp998Cys)
n.3290G>T
2g.71570604G>ACA347216899DYSFc.463G>A (p.Glu155Lys)
c.3037G>A (p.Glu1013Lys)
c.3091G>A (p.Glu1031Lys)
c.3040G>A (p.Glu1014Lys)
c.3088G>A (p.Glu1030Lys)
c.3133G>A (p.Glu1045Lys)
c.2998G>A (p.Glu1000Lys)
c.3130G>A (p.Glu1044Lys)
n.203G>A
c.2995G>A (p.Glu999Lys)
n.3291G>A
 COSMIC COSMIC
2g.71570604G>CCA347216897DYSFc.463G>C (p.Glu155Gln)
c.3037G>C (p.Glu1013Gln)
c.3091G>C (p.Glu1031Gln)
c.3040G>C (p.Glu1014Gln)
c.3088G>C (p.Glu1030Gln)
c.3133G>C (p.Glu1045Gln)
c.2998G>C (p.Glu1000Gln)
c.3130G>C (p.Glu1044Gln)
n.203G>C
c.2995G>C (p.Glu999Gln)
n.3291G>C
 gnomAD v4
2g.71570604G=CA1260104066DYSFc.463G= (p.Glu155=)
c.3037G= (p.Glu1013=)
c.3091G= (p.Glu1031=)
c.3040G= (p.Glu1014=)
c.3088G= (p.Glu1030=)
c.3133G= (p.Glu1045=)
c.2998G= (p.Glu1000=)
c.3130G= (p.Glu1044=)
n.203G=
c.2995G= (p.Glu999=)
n.3291G=
2g.71570604G>TCA347216898DYSFc.463G>T (p.Glu155Ter)
c.3037G>T (p.Glu1013Ter)
c.3091G>T (p.Glu1031Ter)
c.3040G>T (p.Glu1014Ter)
c.3088G>T (p.Glu1030Ter)
c.3133G>T (p.Glu1045Ter)
c.2998G>T (p.Glu1000Ter)
c.3130G>T (p.Glu1044Ter)
n.203G>T
c.2995G>T (p.Glu999Ter)
n.3291G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71570605A>CCA347216900DYSFc.464A>C (p.Glu155Ala)
c.3038A>C (p.Glu1013Ala)
c.3092A>C (p.Glu1031Ala)
c.3041A>C (p.Glu1014Ala)
c.3089A>C (p.Glu1030Ala)
c.3134A>C (p.Glu1045Ala)
c.2999A>C (p.Glu1000Ala)
c.3131A>C (p.Glu1044Ala)
n.204A>C
c.2996A>C (p.Glu999Ala)
n.3292A>C
2g.71570605A>GCA347216901DYSFc.464A>G (p.Glu155Gly)
c.3038A>G (p.Glu1013Gly)
c.3092A>G (p.Glu1031Gly)
c.3041A>G (p.Glu1014Gly)
c.3089A>G (p.Glu1030Gly)
c.3134A>G (p.Glu1045Gly)
c.2999A>G (p.Glu1000Gly)
c.3131A>G (p.Glu1044Gly)
n.204A>G
c.2996A>G (p.Glu999Gly)
n.3292A>G
 ClinVar dbSNP
2g.71570605A>TCA347216902DYSFc.464A>T (p.Glu155Val)
c.3038A>T (p.Glu1013Val)
c.3092A>T (p.Glu1031Val)
c.3041A>T (p.Glu1014Val)
c.3089A>T (p.Glu1030Val)
c.3134A>T (p.Glu1045Val)
c.2999A>T (p.Glu1000Val)
c.3131A>T (p.Glu1044Val)
n.204A>T
c.2996A>T (p.Glu999Val)
n.3292A>T
2g.71570606G>ACA426702044DYSFc.465G>A (p.Glu155=)
c.3039G>A (p.Glu1013=)
c.3093G>A (p.Glu1031=)
c.3042G>A (p.Glu1014=)
c.3090G>A (p.Glu1030=)
c.3135G>A (p.Glu1045=)
c.3000G>A (p.Glu1000=)
c.3132G>A (p.Glu1044=)
n.205G>A
c.2997G>A (p.Glu999=)
n.3293G>A
 ClinVar dbSNP
2g.71570606G>CCA347216903DYSFc.465G>C (p.Glu155Asp)
c.3039G>C (p.Glu1013Asp)
c.3093G>C (p.Glu1031Asp)
c.3042G>C (p.Glu1014Asp)
c.3090G>C (p.Glu1030Asp)
c.3135G>C (p.Glu1045Asp)
c.3000G>C (p.Glu1000Asp)
c.3132G>C (p.Glu1044Asp)
n.205G>C
c.2997G>C (p.Glu999Asp)
n.3293G>C
 dbSNP gnomAD v2 gnomAD v4
2g.71570606G=CA1260104067DYSFc.465G= (p.Glu155=)
c.3039G= (p.Glu1013=)
c.3093G= (p.Glu1031=)
c.3042G= (p.Glu1014=)
c.3090G= (p.Glu1030=)
c.3135G= (p.Glu1045=)
c.3000G= (p.Glu1000=)
c.3132G= (p.Glu1044=)
n.205G=
c.2997G= (p.Glu999=)
n.3293G=
2g.71570606G>TCA347216904DYSFc.465G>T (p.Glu155Asp)
c.3039G>T (p.Glu1013Asp)
c.3093G>T (p.Glu1031Asp)
c.3042G>T (p.Glu1014Asp)
c.3090G>T (p.Glu1030Asp)
c.3135G>T (p.Glu1045Asp)
c.3000G>T (p.Glu1000Asp)
c.3132G>T (p.Glu1044Asp)
n.205G>T
c.2997G>T (p.Glu999Asp)
n.3293G>T
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

Number of alleles fetched