Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.31444491T>ACA412655046DMDc.3920A>T (p.Lys1307Met)
c.1694A>T (p.Lys565Met)
n.2539A>T
n.2566A>T
c.929A>T (p.Lys310Met)
c.9074A>T (p.Lys3025Met)
c.5042A>T (p.Lys1681Met)
n.2735A>T
c.887A>T (p.Lys296Met)
c.2162A>T (p.Lys721Met)
c.9062A>T (p.Lys3021Met)
c.9059A>T (p.Lys3020Met)
c.9071A>T (p.Lys3024Met)
c.9050A>T (p.Lys3017Met)
c.8705A>T (p.Lys2902Met)
c.5051A>T (p.Lys1684Met)
c.8945A>T (p.Lys2982Met)
c.8936A>T (p.Lys2979Met)
c.8951A>T (p.Lys2984Met)
c.3248A>T (p.Lys1083Met)
Xg.31444491T>CCA10377930DMDc.3920A>G (p.Lys1307Arg)
c.1694A>G (p.Lys565Arg)
n.2539A>G
n.2566A>G
c.929A>G (p.Lys310Arg)
c.9074A>G (p.Lys3025Arg)
c.5042A>G (p.Lys1681Arg)
n.2735A>G
c.887A>G (p.Lys296Arg)
c.2162A>G (p.Lys721Arg)
c.9062A>G (p.Lys3021Arg)
c.9059A>G (p.Lys3020Arg)
c.9071A>G (p.Lys3024Arg)
c.9050A>G (p.Lys3017Arg)
c.8705A>G (p.Lys2902Arg)
c.5051A>G (p.Lys1684Arg)
c.8945A>G (p.Lys2982Arg)
c.8936A>G (p.Lys2979Arg)
c.8951A>G (p.Lys2984Arg)
c.3248A>G (p.Lys1083Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31444491T>GCA412655047DMDc.3920A>C (p.Lys1307Thr)
c.1694A>C (p.Lys565Thr)
n.2539A>C
n.2566A>C
c.929A>C (p.Lys310Thr)
c.9074A>C (p.Lys3025Thr)
c.5042A>C (p.Lys1681Thr)
n.2735A>C
c.887A>C (p.Lys296Thr)
c.2162A>C (p.Lys721Thr)
c.9062A>C (p.Lys3021Thr)
c.9059A>C (p.Lys3020Thr)
c.9071A>C (p.Lys3024Thr)
c.9050A>C (p.Lys3017Thr)
c.8705A>C (p.Lys2902Thr)
c.5051A>C (p.Lys1684Thr)
c.8945A>C (p.Lys2982Thr)
c.8936A>C (p.Lys2979Thr)
c.8951A>C (p.Lys2984Thr)
c.3248A>C (p.Lys1083Thr)
Xg.31444491T=CA2422434033DMDc.3920A= (p.Lys1307=)
c.1694A= (p.Lys565=)
n.2539A=
n.2566A=
c.929A= (p.Lys310=)
c.9074A= (p.Lys3025=)
c.5042A= (p.Lys1681=)
n.2735A=
c.887A= (p.Lys296=)
c.2162A= (p.Lys721=)
c.9062A= (p.Lys3021=)
c.9059A= (p.Lys3020=)
c.9071A= (p.Lys3024=)
c.9050A= (p.Lys3017=)
c.8705A= (p.Lys2902=)
c.5051A= (p.Lys1684=)
c.8945A= (p.Lys2982=)
c.8936A= (p.Lys2979=)
c.8951A= (p.Lys2984=)
c.3248A= (p.Lys1083=)
Xg.31444492T>ACA412655048DMDc.3919A>T (p.Lys1307Ter)
c.1693A>T (p.Lys565Ter)
n.2538A>T
n.2565A>T
c.928A>T (p.Lys310Ter)
c.9073A>T (p.Lys3025Ter)
c.5041A>T (p.Lys1681Ter)
n.2734A>T
c.886A>T (p.Lys296Ter)
c.2161A>T (p.Lys721Ter)
c.9061A>T (p.Lys3021Ter)
c.9058A>T (p.Lys3020Ter)
c.9070A>T (p.Lys3024Ter)
c.9049A>T (p.Lys3017Ter)
c.8704A>T (p.Lys2902Ter)
c.5050A>T (p.Lys1684Ter)
c.8944A>T (p.Lys2982Ter)
c.8935A>T (p.Lys2979Ter)
c.8950A>T (p.Lys2984Ter)
c.3247A>T (p.Lys1083Ter)
Xg.31444492T>CCA412655049DMDc.3919A>G (p.Lys1307Glu)
c.1693A>G (p.Lys565Glu)
n.2538A>G
n.2565A>G
c.928A>G (p.Lys310Glu)
c.9073A>G (p.Lys3025Glu)
c.5041A>G (p.Lys1681Glu)
n.2734A>G
c.886A>G (p.Lys296Glu)
c.2161A>G (p.Lys721Glu)
c.9061A>G (p.Lys3021Glu)
c.9058A>G (p.Lys3020Glu)
c.9070A>G (p.Lys3024Glu)
c.9049A>G (p.Lys3017Glu)
c.8704A>G (p.Lys2902Glu)
c.5050A>G (p.Lys1684Glu)
c.8944A>G (p.Lys2982Glu)
c.8935A>G (p.Lys2979Glu)
c.8950A>G (p.Lys2984Glu)
c.3247A>G (p.Lys1083Glu)
Xg.31444492T>GCA10377931DMDc.3919A>C (p.Lys1307Gln)
c.1693A>C (p.Lys565Gln)
n.2538A>C
n.2565A>C
c.928A>C (p.Lys310Gln)
c.9073A>C (p.Lys3025Gln)
c.5041A>C (p.Lys1681Gln)
n.2734A>C
c.886A>C (p.Lys296Gln)
c.2161A>C (p.Lys721Gln)
c.9061A>C (p.Lys3021Gln)
c.9058A>C (p.Lys3020Gln)
c.9070A>C (p.Lys3024Gln)
c.9049A>C (p.Lys3017Gln)
c.8704A>C (p.Lys2902Gln)
c.5050A>C (p.Lys1684Gln)
c.8944A>C (p.Lys2982Gln)
c.8935A>C (p.Lys2979Gln)
c.8950A>C (p.Lys2984Gln)
c.3247A>C (p.Lys1083Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31444492T=CA2422434034DMDc.3919A= (p.Lys1307=)
c.1693A= (p.Lys565=)
n.2538A=
n.2565A=
c.928A= (p.Lys310=)
c.9073A= (p.Lys3025=)
c.5041A= (p.Lys1681=)
n.2734A=
c.886A= (p.Lys296=)
c.2161A= (p.Lys721=)
c.9061A= (p.Lys3021=)
c.9058A= (p.Lys3020=)
c.9070A= (p.Lys3024=)
c.9049A= (p.Lys3017=)
c.8704A= (p.Lys2902=)
c.5050A= (p.Lys1684=)
c.8944A= (p.Lys2982=)
c.8935A= (p.Lys2979=)
c.8950A= (p.Lys2984=)
c.3247A= (p.Lys1083=)
Xg.31444493C>ACA412655050DMDc.3918G>T (p.Trp1306Cys)
c.1692G>T (p.Trp564Cys)
n.2537G>T
n.2564G>T
c.927G>T (p.Trp309Cys)
c.9072G>T (p.Trp3024Cys)
c.5040G>T (p.Trp1680Cys)
n.2733G>T
c.885G>T (p.Trp295Cys)
c.2160G>T (p.Trp720Cys)
c.9060G>T (p.Trp3020Cys)
c.9057G>T (p.Trp3019Cys)
c.9069G>T (p.Trp3023Cys)
c.9048G>T (p.Trp3016Cys)
c.8703G>T (p.Trp2901Cys)
c.5049G>T (p.Trp1683Cys)
c.8943G>T (p.Trp2981Cys)
c.8934G>T (p.Trp2978Cys)
c.8949G>T (p.Trp2983Cys)
c.3246G>T (p.Trp1082Cys)
Xg.31444493C>GCA412655051DMDc.3918G>C (p.Trp1306Cys)
c.1692G>C (p.Trp564Cys)
n.2537G>C
n.2564G>C
c.927G>C (p.Trp309Cys)
c.9072G>C (p.Trp3024Cys)
c.5040G>C (p.Trp1680Cys)
n.2733G>C
c.885G>C (p.Trp295Cys)
c.2160G>C (p.Trp720Cys)
c.9060G>C (p.Trp3020Cys)
c.9057G>C (p.Trp3019Cys)
c.9069G>C (p.Trp3023Cys)
c.9048G>C (p.Trp3016Cys)
c.8703G>C (p.Trp2901Cys)
c.5049G>C (p.Trp1683Cys)
c.8943G>C (p.Trp2981Cys)
c.8934G>C (p.Trp2978Cys)
c.8949G>C (p.Trp2983Cys)
c.3246G>C (p.Trp1082Cys)
Xg.31444493C>TCA412655052DMDc.3918G>A (p.Trp1306Ter)
c.1692G>A (p.Trp564Ter)
n.2537G>A
n.2564G>A
c.927G>A (p.Trp309Ter)
c.9072G>A (p.Trp3024Ter)
c.5040G>A (p.Trp1680Ter)
n.2733G>A
c.885G>A (p.Trp295Ter)
c.2160G>A (p.Trp720Ter)
c.9060G>A (p.Trp3020Ter)
c.9057G>A (p.Trp3019Ter)
c.9069G>A (p.Trp3023Ter)
c.9048G>A (p.Trp3016Ter)
c.8703G>A (p.Trp2901Ter)
c.5049G>A (p.Trp1683Ter)
c.8943G>A (p.Trp2981Ter)
c.8934G>A (p.Trp2978Ter)
c.8949G>A (p.Trp2983Ter)
c.3246G>A (p.Trp1082Ter)
 dbSNP
Xg.31444494C>ACA412655055DMDc.3917G>T (p.Trp1306Leu)
c.1691G>T (p.Trp564Leu)
n.2536G>T
n.2563G>T
c.926G>T (p.Trp309Leu)
c.9071G>T (p.Trp3024Leu)
c.5039G>T (p.Trp1680Leu)
n.2732G>T
c.884G>T (p.Trp295Leu)
c.2159G>T (p.Trp720Leu)
c.9059G>T (p.Trp3020Leu)
c.9056G>T (p.Trp3019Leu)
c.9068G>T (p.Trp3023Leu)
c.9047G>T (p.Trp3016Leu)
c.8702G>T (p.Trp2901Leu)
c.5048G>T (p.Trp1683Leu)
c.8942G>T (p.Trp2981Leu)
c.8933G>T (p.Trp2978Leu)
c.8948G>T (p.Trp2983Leu)
c.3245G>T (p.Trp1082Leu)
Xg.31444494C>GCA412655054DMDc.3917G>C (p.Trp1306Ser)
c.1691G>C (p.Trp564Ser)
n.2536G>C
n.2563G>C
c.926G>C (p.Trp309Ser)
c.9071G>C (p.Trp3024Ser)
c.5039G>C (p.Trp1680Ser)
n.2732G>C
c.884G>C (p.Trp295Ser)
c.2159G>C (p.Trp720Ser)
c.9059G>C (p.Trp3020Ser)
c.9056G>C (p.Trp3019Ser)
c.9068G>C (p.Trp3023Ser)
c.9047G>C (p.Trp3016Ser)
c.8702G>C (p.Trp2901Ser)
c.5048G>C (p.Trp1683Ser)
c.8942G>C (p.Trp2981Ser)
c.8933G>C (p.Trp2978Ser)
c.8948G>C (p.Trp2983Ser)
c.3245G>C (p.Trp1082Ser)
Xg.31444494C>TCA412655053DMDc.3917G>A (p.Trp1306Ter)
c.1691G>A (p.Trp564Ter)
n.2536G>A
n.2563G>A
c.926G>A (p.Trp309Ter)
c.9071G>A (p.Trp3024Ter)
c.5039G>A (p.Trp1680Ter)
n.2732G>A
c.884G>A (p.Trp295Ter)
c.2159G>A (p.Trp720Ter)
c.9059G>A (p.Trp3020Ter)
c.9056G>A (p.Trp3019Ter)
c.9068G>A (p.Trp3023Ter)
c.9047G>A (p.Trp3016Ter)
c.8702G>A (p.Trp2901Ter)
c.5048G>A (p.Trp1683Ter)
c.8942G>A (p.Trp2981Ter)
c.8933G>A (p.Trp2978Ter)
c.8948G>A (p.Trp2983Ter)
c.3245G>A (p.Trp1082Ter)
Xg.31444495A=CA2422434035DMDc.3916T= (p.Trp1306=)
c.1690T= (p.Trp564=)
n.2535T=
n.2562T=
c.925T= (p.Trp309=)
c.9070T= (p.Trp3024=)
c.5038T= (p.Trp1680=)
n.2731T=
c.883T= (p.Trp295=)
c.2158T= (p.Trp720=)
c.9058T= (p.Trp3020=)
c.9055T= (p.Trp3019=)
c.9067T= (p.Trp3023=)
c.9046T= (p.Trp3016=)
c.8701T= (p.Trp2901=)
c.5047T= (p.Trp1683=)
c.8941T= (p.Trp2981=)
c.8932T= (p.Trp2978=)
c.8947T= (p.Trp2983=)
c.3244T= (p.Trp1082=)
Xg.31444495A>CCA412655056DMDc.3916T>G (p.Trp1306Gly)
c.1690T>G (p.Trp564Gly)
n.2535T>G
n.2562T>G
c.925T>G (p.Trp309Gly)
c.9070T>G (p.Trp3024Gly)
c.5038T>G (p.Trp1680Gly)
n.2731T>G
c.883T>G (p.Trp295Gly)
c.2158T>G (p.Trp720Gly)
c.9058T>G (p.Trp3020Gly)
c.9055T>G (p.Trp3019Gly)
c.9067T>G (p.Trp3023Gly)
c.9046T>G (p.Trp3016Gly)
c.8701T>G (p.Trp2901Gly)
c.5047T>G (p.Trp1683Gly)
c.8941T>G (p.Trp2981Gly)
c.8932T>G (p.Trp2978Gly)
c.8947T>G (p.Trp2983Gly)
c.3244T>G (p.Trp1082Gly)
Xg.31444495A>GCA412655057DMDc.3916T>C (p.Trp1306Arg)
c.1690T>C (p.Trp564Arg)
n.2535T>C
n.2562T>C
c.925T>C (p.Trp309Arg)
c.9070T>C (p.Trp3024Arg)
c.5038T>C (p.Trp1680Arg)
n.2731T>C
c.883T>C (p.Trp295Arg)
c.2158T>C (p.Trp720Arg)
c.9058T>C (p.Trp3020Arg)
c.9055T>C (p.Trp3019Arg)
c.9067T>C (p.Trp3023Arg)
c.9046T>C (p.Trp3016Arg)
c.8701T>C (p.Trp2901Arg)
c.5047T>C (p.Trp1683Arg)
c.8941T>C (p.Trp2981Arg)
c.8932T>C (p.Trp2978Arg)
c.8947T>C (p.Trp2983Arg)
c.3244T>C (p.Trp1082Arg)
 dbSNP gnomAD v4
Xg.31444495A>TCA412655058DMDc.3916T>A (p.Trp1306Arg)
c.1690T>A (p.Trp564Arg)
n.2535T>A
n.2562T>A
c.925T>A (p.Trp309Arg)
c.9070T>A (p.Trp3024Arg)
c.5038T>A (p.Trp1680Arg)
n.2731T>A
c.883T>A (p.Trp295Arg)
c.2158T>A (p.Trp720Arg)
c.9058T>A (p.Trp3020Arg)
c.9055T>A (p.Trp3019Arg)
c.9067T>A (p.Trp3023Arg)
c.9046T>A (p.Trp3016Arg)
c.8701T>A (p.Trp2901Arg)
c.5047T>A (p.Trp1683Arg)
c.8941T>A (p.Trp2981Arg)
c.8932T>A (p.Trp2978Arg)
c.8947T>A (p.Trp2983Arg)
c.3244T>A (p.Trp1082Arg)
Xg.31444496T>ACA412655059DMDc.3915A>T (p.Arg1305Ser)
c.1689A>T (p.Arg563Ser)
n.2534A>T
n.2561A>T
c.924A>T (p.Arg308Ser)
c.9069A>T (p.Arg3023Ser)
c.5037A>T (p.Arg1679Ser)
n.2730A>T
c.882A>T (p.Arg294Ser)
c.2157A>T (p.Arg719Ser)
c.9057A>T (p.Arg3019Ser)
c.9054A>T (p.Arg3018Ser)
c.9066A>T (p.Arg3022Ser)
c.9045A>T (p.Arg3015Ser)
c.8700A>T (p.Arg2900Ser)
c.5046A>T (p.Arg1682Ser)
c.8940A>T (p.Arg2980Ser)
c.8931A>T (p.Arg2977Ser)
c.8946A>T (p.Arg2982Ser)
c.3243A>T (p.Arg1081Ser)
 gnomAD v4
Xg.31444496T>CCA515858185DMDc.3915A>G (p.Arg1305=)
c.1689A>G (p.Arg563=)
n.2534A>G
n.2561A>G
c.924A>G (p.Arg308=)
c.9069A>G (p.Arg3023=)
c.5037A>G (p.Arg1679=)
n.2730A>G
c.882A>G (p.Arg294=)
c.2157A>G (p.Arg719=)
c.9057A>G (p.Arg3019=)
c.9054A>G (p.Arg3018=)
c.9066A>G (p.Arg3022=)
c.9045A>G (p.Arg3015=)
c.8700A>G (p.Arg2900=)
c.5046A>G (p.Arg1682=)
c.8940A>G (p.Arg2980=)
c.8931A>G (p.Arg2977=)
c.8946A>G (p.Arg2982=)
c.3243A>G (p.Arg1081=)
 ClinVar dbSNP gnomAD v4
Xg.31444496T>GCA412655060DMDc.3915A>C (p.Arg1305Ser)
c.1689A>C (p.Arg563Ser)
n.2534A>C
n.2561A>C
c.924A>C (p.Arg308Ser)
c.9069A>C (p.Arg3023Ser)
c.5037A>C (p.Arg1679Ser)
n.2730A>C
c.882A>C (p.Arg294Ser)
c.2157A>C (p.Arg719Ser)
c.9057A>C (p.Arg3019Ser)
c.9054A>C (p.Arg3018Ser)
c.9066A>C (p.Arg3022Ser)
c.9045A>C (p.Arg3015Ser)
c.8700A>C (p.Arg2900Ser)
c.5046A>C (p.Arg1682Ser)
c.8940A>C (p.Arg2980Ser)
c.8931A>C (p.Arg2977Ser)
c.8946A>C (p.Arg2982Ser)
c.3243A>C (p.Arg1081Ser)
Xg.31444496T=CA2422434036DMDc.3915A= (p.Arg1305=)
c.1689A= (p.Arg563=)
n.2534A=
n.2561A=
c.924A= (p.Arg308=)
c.9069A= (p.Arg3023=)
c.5037A= (p.Arg1679=)
n.2730A=
c.882A= (p.Arg294=)
c.2157A= (p.Arg719=)
c.9057A= (p.Arg3019=)
c.9054A= (p.Arg3018=)
c.9066A= (p.Arg3022=)
c.9045A= (p.Arg3015=)
c.8700A= (p.Arg2900=)
c.5046A= (p.Arg1682=)
c.8940A= (p.Arg2980=)
c.8931A= (p.Arg2977=)
c.8946A= (p.Arg2982=)
c.3243A= (p.Arg1081=)
Xg.31444497C>ACA412655061DMDc.3914G>T (p.Arg1305Ile)
c.1688G>T (p.Arg563Ile)
n.2533G>T
n.2560G>T
c.923G>T (p.Arg308Ile)
c.9068G>T (p.Arg3023Ile)
c.5036G>T (p.Arg1679Ile)
n.2729G>T
c.881G>T (p.Arg294Ile)
c.2156G>T (p.Arg719Ile)
c.9056G>T (p.Arg3019Ile)
c.9053G>T (p.Arg3018Ile)
c.9065G>T (p.Arg3022Ile)
c.9044G>T (p.Arg3015Ile)
c.8699G>T (p.Arg2900Ile)
c.5045G>T (p.Arg1682Ile)
c.8939G>T (p.Arg2980Ile)
c.8930G>T (p.Arg2977Ile)
c.8945G>T (p.Arg2982Ile)
c.3242G>T (p.Arg1081Ile)
Xg.31444497C>GCA412655062DMDc.3914G>C (p.Arg1305Thr)
c.1688G>C (p.Arg563Thr)
n.2533G>C
n.2560G>C
c.923G>C (p.Arg308Thr)
c.9068G>C (p.Arg3023Thr)
c.5036G>C (p.Arg1679Thr)
n.2729G>C
c.881G>C (p.Arg294Thr)
c.2156G>C (p.Arg719Thr)
c.9056G>C (p.Arg3019Thr)
c.9053G>C (p.Arg3018Thr)
c.9065G>C (p.Arg3022Thr)
c.9044G>C (p.Arg3015Thr)
c.8699G>C (p.Arg2900Thr)
c.5045G>C (p.Arg1682Thr)
c.8939G>C (p.Arg2980Thr)
c.8930G>C (p.Arg2977Thr)
c.8945G>C (p.Arg2982Thr)
c.3242G>C (p.Arg1081Thr)
Xg.31444497C>TCA412655063DMDc.3914G>A (p.Arg1305Lys)
c.1688G>A (p.Arg563Lys)
n.2533G>A
n.2560G>A
c.923G>A (p.Arg308Lys)
c.9068G>A (p.Arg3023Lys)
c.5036G>A (p.Arg1679Lys)
n.2729G>A
c.881G>A (p.Arg294Lys)
c.2156G>A (p.Arg719Lys)
c.9056G>A (p.Arg3019Lys)
c.9053G>A (p.Arg3018Lys)
c.9065G>A (p.Arg3022Lys)
c.9044G>A (p.Arg3015Lys)
c.8699G>A (p.Arg2900Lys)
c.5045G>A (p.Arg1682Lys)
c.8939G>A (p.Arg2980Lys)
c.8930G>A (p.Arg2977Lys)
c.8945G>A (p.Arg2982Lys)
c.3242G>A (p.Arg1081Lys)
Xg.31444498T>ACA412655064DMDc.3913A>T (p.Arg1305Ter)
c.1687A>T (p.Arg563Ter)
n.2532A>T
n.2559A>T
c.922A>T (p.Arg308Ter)
c.9067A>T (p.Arg3023Ter)
c.5035A>T (p.Arg1679Ter)
n.2728A>T
c.880A>T (p.Arg294Ter)
c.2155A>T (p.Arg719Ter)
c.9055A>T (p.Arg3019Ter)
c.9052A>T (p.Arg3018Ter)
c.9064A>T (p.Arg3022Ter)
c.9043A>T (p.Arg3015Ter)
c.8698A>T (p.Arg2900Ter)
c.5044A>T (p.Arg1682Ter)
c.8938A>T (p.Arg2980Ter)
c.8929A>T (p.Arg2977Ter)
c.8944A>T (p.Arg2982Ter)
c.3241A>T (p.Arg1081Ter)
Xg.31444498T>CCA412655065DMDc.3913A>G (p.Arg1305Gly)
c.1687A>G (p.Arg563Gly)
n.2532A>G
n.2559A>G
c.922A>G (p.Arg308Gly)
c.9067A>G (p.Arg3023Gly)
c.5035A>G (p.Arg1679Gly)
n.2728A>G
c.880A>G (p.Arg294Gly)
c.2155A>G (p.Arg719Gly)
c.9055A>G (p.Arg3019Gly)
c.9052A>G (p.Arg3018Gly)
c.9064A>G (p.Arg3022Gly)
c.9043A>G (p.Arg3015Gly)
c.8698A>G (p.Arg2900Gly)
c.5044A>G (p.Arg1682Gly)
c.8938A>G (p.Arg2980Gly)
c.8929A>G (p.Arg2977Gly)
c.8944A>G (p.Arg2982Gly)
c.3241A>G (p.Arg1081Gly)
Xg.31444498T>GCA515858188DMDc.3913A>C (p.Arg1305=)
c.1687A>C (p.Arg563=)
n.2532A>C
n.2559A>C
c.922A>C (p.Arg308=)
c.9067A>C (p.Arg3023=)
c.5035A>C (p.Arg1679=)
n.2728A>C
c.880A>C (p.Arg294=)
c.2155A>C (p.Arg719=)
c.9055A>C (p.Arg3019=)
c.9052A>C (p.Arg3018=)
c.9064A>C (p.Arg3022=)
c.9043A>C (p.Arg3015=)
c.8698A>C (p.Arg2900=)
c.5044A>C (p.Arg1682=)
c.8938A>C (p.Arg2980=)
c.8929A>C (p.Arg2977=)
c.8944A>C (p.Arg2982=)
c.3241A>C (p.Arg1081=)
Xg.31444499G>ACA515858191DMDc.3912C>T (p.Thr1304=)
c.1686C>T (p.Thr562=)
n.2531C>T
n.2558C>T
c.921C>T (p.Thr307=)
c.9066C>T (p.Thr3022=)
c.5034C>T (p.Thr1678=)
n.2727C>T
c.879C>T (p.Thr293=)
c.2154C>T (p.Thr718=)
c.9054C>T (p.Thr3018=)
c.9051C>T (p.Thr3017=)
c.9063C>T (p.Thr3021=)
c.9042C>T (p.Thr3014=)
c.8697C>T (p.Thr2899=)
c.5043C>T (p.Thr1681=)
c.8937C>T (p.Thr2979=)
c.8928C>T (p.Thr2976=)
c.8943C>T (p.Thr2981=)
c.3240C>T (p.Thr1080=)
 dbSNP gnomAD v3 gnomAD v4
Xg.31444499G>CCA515858190DMDc.3912C>G (p.Thr1304=)
c.1686C>G (p.Thr562=)
n.2531C>G
n.2558C>G
c.921C>G (p.Thr307=)
c.9066C>G (p.Thr3022=)
c.5034C>G (p.Thr1678=)
n.2727C>G
c.879C>G (p.Thr293=)
c.2154C>G (p.Thr718=)
c.9054C>G (p.Thr3018=)
c.9051C>G (p.Thr3017=)
c.9063C>G (p.Thr3021=)
c.9042C>G (p.Thr3014=)
c.8697C>G (p.Thr2899=)
c.5043C>G (p.Thr1681=)
c.8937C>G (p.Thr2979=)
c.8928C>G (p.Thr2976=)
c.8943C>G (p.Thr2981=)
c.3240C>G (p.Thr1080=)
Xg.31444499G=CA2422434037DMDc.3912C= (p.Thr1304=)
c.1686C= (p.Thr562=)
n.2531C=
n.2558C=
c.921C= (p.Thr307=)
c.9066C= (p.Thr3022=)
c.5034C= (p.Thr1678=)
n.2727C=
c.879C= (p.Thr293=)
c.2154C= (p.Thr718=)
c.9054C= (p.Thr3018=)
c.9051C= (p.Thr3017=)
c.9063C= (p.Thr3021=)
c.9042C= (p.Thr3014=)
c.8697C= (p.Thr2899=)
c.5043C= (p.Thr1681=)
c.8937C= (p.Thr2979=)
c.8928C= (p.Thr2976=)
c.8943C= (p.Thr2981=)
c.3240C= (p.Thr1080=)
Xg.31444499G>TCA515858189DMDc.3912C>A (p.Thr1304=)
c.1686C>A (p.Thr562=)
n.2531C>A
n.2558C>A
c.921C>A (p.Thr307=)
c.9066C>A (p.Thr3022=)
c.5034C>A (p.Thr1678=)
n.2727C>A
c.879C>A (p.Thr293=)
c.2154C>A (p.Thr718=)
c.9054C>A (p.Thr3018=)
c.9051C>A (p.Thr3017=)
c.9063C>A (p.Thr3021=)
c.9042C>A (p.Thr3014=)
c.8697C>A (p.Thr2899=)
c.5043C>A (p.Thr1681=)
c.8937C>A (p.Thr2979=)
c.8928C>A (p.Thr2976=)
c.8943C>A (p.Thr2981=)
c.3240C>A (p.Thr1080=)
Xg.31444500G>ACA412655066DMDc.3911C>T (p.Thr1304Ile)
c.1685C>T (p.Thr562Ile)
n.2530C>T
n.2557C>T
c.920C>T (p.Thr307Ile)
c.9065C>T (p.Thr3022Ile)
c.5033C>T (p.Thr1678Ile)
n.2726C>T
c.878C>T (p.Thr293Ile)
c.2153C>T (p.Thr718Ile)
c.9053C>T (p.Thr3018Ile)
c.9050C>T (p.Thr3017Ile)
c.9062C>T (p.Thr3021Ile)
c.9041C>T (p.Thr3014Ile)
c.8696C>T (p.Thr2899Ile)
c.5042C>T (p.Thr1681Ile)
c.8936C>T (p.Thr2979Ile)
c.8927C>T (p.Thr2976Ile)
c.8942C>T (p.Thr2981Ile)
c.3239C>T (p.Thr1080Ile)
Xg.31444500G>CCA412655067DMDc.3911C>G (p.Thr1304Ser)
c.1685C>G (p.Thr562Ser)
n.2530C>G
n.2557C>G
c.920C>G (p.Thr307Ser)
c.9065C>G (p.Thr3022Ser)
c.5033C>G (p.Thr1678Ser)
n.2726C>G
c.878C>G (p.Thr293Ser)
c.2153C>G (p.Thr718Ser)
c.9053C>G (p.Thr3018Ser)
c.9050C>G (p.Thr3017Ser)
c.9062C>G (p.Thr3021Ser)
c.9041C>G (p.Thr3014Ser)
c.8696C>G (p.Thr2899Ser)
c.5042C>G (p.Thr1681Ser)
c.8936C>G (p.Thr2979Ser)
c.8927C>G (p.Thr2976Ser)
c.8942C>G (p.Thr2981Ser)
c.3239C>G (p.Thr1080Ser)
 gnomAD v4
Xg.31444500G>TCA412655068DMDc.3911C>A (p.Thr1304Asn)
c.1685C>A (p.Thr562Asn)
n.2530C>A
n.2557C>A
c.920C>A (p.Thr307Asn)
c.9065C>A (p.Thr3022Asn)
c.5033C>A (p.Thr1678Asn)
n.2726C>A
c.878C>A (p.Thr293Asn)
c.2153C>A (p.Thr718Asn)
c.9053C>A (p.Thr3018Asn)
c.9050C>A (p.Thr3017Asn)
c.9062C>A (p.Thr3021Asn)
c.9041C>A (p.Thr3014Asn)
c.8696C>A (p.Thr2899Asn)
c.5042C>A (p.Thr1681Asn)
c.8936C>A (p.Thr2979Asn)
c.8927C>A (p.Thr2976Asn)
c.8942C>A (p.Thr2981Asn)
c.3239C>A (p.Thr1080Asn)
 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31444501T>ACA412655071DMDc.3910A>T (p.Thr1304Ser)
c.1684A>T (p.Thr562Ser)
n.2529A>T
n.2556A>T
c.919A>T (p.Thr307Ser)
c.9064A>T (p.Thr3022Ser)
c.5032A>T (p.Thr1678Ser)
n.2725A>T
c.877A>T (p.Thr293Ser)
c.2152A>T (p.Thr718Ser)
c.9052A>T (p.Thr3018Ser)
c.9049A>T (p.Thr3017Ser)
c.9061A>T (p.Thr3021Ser)
c.9040A>T (p.Thr3014Ser)
c.8695A>T (p.Thr2899Ser)
c.5041A>T (p.Thr1681Ser)
c.8935A>T (p.Thr2979Ser)
c.8926A>T (p.Thr2976Ser)
c.8941A>T (p.Thr2981Ser)
c.3238A>T (p.Thr1080Ser)
Xg.31444501T>CCA412655069DMDc.3910A>G (p.Thr1304Ala)
c.1684A>G (p.Thr562Ala)
n.2529A>G
n.2556A>G
c.919A>G (p.Thr307Ala)
c.9064A>G (p.Thr3022Ala)
c.5032A>G (p.Thr1678Ala)
n.2725A>G
c.877A>G (p.Thr293Ala)
c.2152A>G (p.Thr718Ala)
c.9052A>G (p.Thr3018Ala)
c.9049A>G (p.Thr3017Ala)
c.9061A>G (p.Thr3021Ala)
c.9040A>G (p.Thr3014Ala)
c.8695A>G (p.Thr2899Ala)
c.5041A>G (p.Thr1681Ala)
c.8935A>G (p.Thr2979Ala)
c.8926A>G (p.Thr2976Ala)
c.8941A>G (p.Thr2981Ala)
c.3238A>G (p.Thr1080Ala)
 dbSNP gnomAD v2 gnomAD v4
Xg.31444501T>GCA412655070DMDc.3910A>C (p.Thr1304Pro)
c.1684A>C (p.Thr562Pro)
n.2529A>C
n.2556A>C
c.919A>C (p.Thr307Pro)
c.9064A>C (p.Thr3022Pro)
c.5032A>C (p.Thr1678Pro)
n.2725A>C
c.877A>C (p.Thr293Pro)
c.2152A>C (p.Thr718Pro)
c.9052A>C (p.Thr3018Pro)
c.9049A>C (p.Thr3017Pro)
c.9061A>C (p.Thr3021Pro)
c.9040A>C (p.Thr3014Pro)
c.8695A>C (p.Thr2899Pro)
c.5041A>C (p.Thr1681Pro)
c.8935A>C (p.Thr2979Pro)
c.8926A>C (p.Thr2976Pro)
c.8941A>C (p.Thr2981Pro)
c.3238A>C (p.Thr1080Pro)
Xg.31444501T=CA2422434038DMDc.3910A= (p.Thr1304=)
c.1684A= (p.Thr562=)
n.2529A=
n.2556A=
c.919A= (p.Thr307=)
c.9064A= (p.Thr3022=)
c.5032A= (p.Thr1678=)
n.2725A=
c.877A= (p.Thr293=)
c.2152A= (p.Thr718=)
c.9052A= (p.Thr3018=)
c.9049A= (p.Thr3017=)
c.9061A= (p.Thr3021=)
c.9040A= (p.Thr3014=)
c.8695A= (p.Thr2899=)
c.5041A= (p.Thr1681=)
c.8935A= (p.Thr2979=)
c.8926A= (p.Thr2976=)
c.8941A= (p.Thr2981=)
c.3238A= (p.Thr1080=)
Xg.31444502G>ACA515858192DMDc.3909C>T (p.Asn1303=)
c.1683C>T (p.Asn561=)
n.2528C>T
n.2555C>T
c.918C>T (p.Asn306=)
c.9063C>T (p.Asn3021=)
c.5031C>T (p.Asn1677=)
n.2724C>T
c.876C>T (p.Asn292=)
c.2151C>T (p.Asn717=)
c.9051C>T (p.Asn3017=)
c.9048C>T (p.Asn3016=)
c.9060C>T (p.Asn3020=)
c.9039C>T (p.Asn3013=)
c.8694C>T (p.Asn2898=)
c.5040C>T (p.Asn1680=)
c.8934C>T (p.Asn2978=)
c.8925C>T (p.Asn2975=)
c.8940C>T (p.Asn2980=)
c.3237C>T (p.Asn1079=)
Xg.31444502G>CCA412655072DMDc.3909C>G (p.Asn1303Lys)
c.1683C>G (p.Asn561Lys)
n.2528C>G
n.2555C>G
c.918C>G (p.Asn306Lys)
c.9063C>G (p.Asn3021Lys)
c.5031C>G (p.Asn1677Lys)
n.2724C>G
c.876C>G (p.Asn292Lys)
c.2151C>G (p.Asn717Lys)
c.9051C>G (p.Asn3017Lys)
c.9048C>G (p.Asn3016Lys)
c.9060C>G (p.Asn3020Lys)
c.9039C>G (p.Asn3013Lys)
c.8694C>G (p.Asn2898Lys)
c.5040C>G (p.Asn1680Lys)
c.8934C>G (p.Asn2978Lys)
c.8925C>G (p.Asn2975Lys)
c.8940C>G (p.Asn2980Lys)
c.3237C>G (p.Asn1079Lys)
Xg.31444502G>TCA412655073DMDc.3909C>A (p.Asn1303Lys)
c.1683C>A (p.Asn561Lys)
n.2528C>A
n.2555C>A
c.918C>A (p.Asn306Lys)
c.9063C>A (p.Asn3021Lys)
c.5031C>A (p.Asn1677Lys)
n.2724C>A
c.876C>A (p.Asn292Lys)
c.2151C>A (p.Asn717Lys)
c.9051C>A (p.Asn3017Lys)
c.9048C>A (p.Asn3016Lys)
c.9060C>A (p.Asn3020Lys)
c.9039C>A (p.Asn3013Lys)
c.8694C>A (p.Asn2898Lys)
c.5040C>A (p.Asn1680Lys)
c.8934C>A (p.Asn2978Lys)
c.8925C>A (p.Asn2975Lys)
c.8940C>A (p.Asn2980Lys)
c.3237C>A (p.Asn1079Lys)
Xg.31444503T>ACA412655074DMDc.3908A>T (p.Asn1303Ile)
c.1682A>T (p.Asn561Ile)
n.2527A>T
n.2554A>T
c.917A>T (p.Asn306Ile)
c.9062A>T (p.Asn3021Ile)
c.5030A>T (p.Asn1677Ile)
n.2723A>T
c.875A>T (p.Asn292Ile)
c.2150A>T (p.Asn717Ile)
c.9050A>T (p.Asn3017Ile)
c.9047A>T (p.Asn3016Ile)
c.9059A>T (p.Asn3020Ile)
c.9038A>T (p.Asn3013Ile)
c.8693A>T (p.Asn2898Ile)
c.5039A>T (p.Asn1680Ile)
c.8933A>T (p.Asn2978Ile)
c.8924A>T (p.Asn2975Ile)
c.8939A>T (p.Asn2980Ile)
c.3236A>T (p.Asn1079Ile)
Xg.31444503T>CCA412655075DMDc.3908A>G (p.Asn1303Ser)
c.1682A>G (p.Asn561Ser)
n.2527A>G
n.2554A>G
c.917A>G (p.Asn306Ser)
c.9062A>G (p.Asn3021Ser)
c.5030A>G (p.Asn1677Ser)
n.2723A>G
c.875A>G (p.Asn292Ser)
c.2150A>G (p.Asn717Ser)
c.9050A>G (p.Asn3017Ser)
c.9047A>G (p.Asn3016Ser)
c.9059A>G (p.Asn3020Ser)
c.9038A>G (p.Asn3013Ser)
c.8693A>G (p.Asn2898Ser)
c.5039A>G (p.Asn1680Ser)
c.8933A>G (p.Asn2978Ser)
c.8924A>G (p.Asn2975Ser)
c.8939A>G (p.Asn2980Ser)
c.3236A>G (p.Asn1079Ser)
 gnomAD v4
Xg.31444503T>GCA412655076DMDc.3908A>C (p.Asn1303Thr)
c.1682A>C (p.Asn561Thr)
n.2527A>C
n.2554A>C
c.917A>C (p.Asn306Thr)
c.9062A>C (p.Asn3021Thr)
c.5030A>C (p.Asn1677Thr)
n.2723A>C
c.875A>C (p.Asn292Thr)
c.2150A>C (p.Asn717Thr)
c.9050A>C (p.Asn3017Thr)
c.9047A>C (p.Asn3016Thr)
c.9059A>C (p.Asn3020Thr)
c.9038A>C (p.Asn3013Thr)
c.8693A>C (p.Asn2898Thr)
c.5039A>C (p.Asn1680Thr)
c.8933A>C (p.Asn2978Thr)
c.8924A>C (p.Asn2975Thr)
c.8939A>C (p.Asn2980Thr)
c.3236A>C (p.Asn1079Thr)
Xg.31444504T>ACA412655077DMDc.3907A>T (p.Asn1303Tyr)
c.1681A>T (p.Asn561Tyr)
n.2526A>T
n.2553A>T
c.916A>T (p.Asn306Tyr)
c.9061A>T (p.Asn3021Tyr)
c.5029A>T (p.Asn1677Tyr)
n.2722A>T
c.874A>T (p.Asn292Tyr)
c.2149A>T (p.Asn717Tyr)
c.9049A>T (p.Asn3017Tyr)
c.9046A>T (p.Asn3016Tyr)
c.9058A>T (p.Asn3020Tyr)
c.9037A>T (p.Asn3013Tyr)
c.8692A>T (p.Asn2898Tyr)
c.5038A>T (p.Asn1680Tyr)
c.8932A>T (p.Asn2978Tyr)
c.8923A>T (p.Asn2975Tyr)
c.8938A>T (p.Asn2980Tyr)
c.3235A>T (p.Asn1079Tyr)
Xg.31444504T>CCA412655078DMDc.3907A>G (p.Asn1303Asp)
c.1681A>G (p.Asn561Asp)
n.2526A>G
n.2553A>G
c.916A>G (p.Asn306Asp)
c.9061A>G (p.Asn3021Asp)
c.5029A>G (p.Asn1677Asp)
n.2722A>G
c.874A>G (p.Asn292Asp)
c.2149A>G (p.Asn717Asp)
c.9049A>G (p.Asn3017Asp)
c.9046A>G (p.Asn3016Asp)
c.9058A>G (p.Asn3020Asp)
c.9037A>G (p.Asn3013Asp)
c.8692A>G (p.Asn2898Asp)
c.5038A>G (p.Asn1680Asp)
c.8932A>G (p.Asn2978Asp)
c.8923A>G (p.Asn2975Asp)
c.8938A>G (p.Asn2980Asp)
c.3235A>G (p.Asn1079Asp)
Xg.31444504T>GCA412655079DMDc.3907A>C (p.Asn1303His)
c.1681A>C (p.Asn561His)
n.2526A>C
n.2553A>C
c.916A>C (p.Asn306His)
c.9061A>C (p.Asn3021His)
c.5029A>C (p.Asn1677His)
n.2722A>C
c.874A>C (p.Asn292His)
c.2149A>C (p.Asn717His)
c.9049A>C (p.Asn3017His)
c.9046A>C (p.Asn3016His)
c.9058A>C (p.Asn3020His)
c.9037A>C (p.Asn3013His)
c.8692A>C (p.Asn2898His)
c.5038A>C (p.Asn1680His)
c.8932A>C (p.Asn2978His)
c.8923A>C (p.Asn2975His)
c.8938A>C (p.Asn2980His)
c.3235A>C (p.Asn1079His)
Xg.31444505delCA2580100570DMDc.3906del (p.Asn1303ThrfsTer?)
c.1680del (p.Asn561ThrfsTer?)
n.2525del
n.2552del
c.915del (p.Asn306ThrfsTer?)
c.9060del (p.Asn3021ThrfsTer?)
c.5028del (p.Asn1677ThrfsTer?)
n.2721del
c.873del (p.Asn292ThrfsTer?)
c.2148del (p.Asn717ThrfsTer?)
c.9048del (p.Asn3017ThrfsTer?)
c.9045del (p.Asn3016ThrfsTer?)
c.9057del (p.Asn3020ThrfsTer?)
c.9036del (p.Asn3013ThrfsTer?)
c.8691del (p.Asn2898ThrfsTer?)
c.5037del (p.Asn1680ThrfsTer?)
c.8931del (p.Asn2978ThrfsTer?)
c.8922del (p.Asn2975ThrfsTer?)
c.8937del (p.Asn2980ThrfsTer?)
c.3234del (p.Asn1079ThrfsTer?)
 ClinVar
Xg.31444505C>ACA515858196DMDc.3906G>T (p.Leu1302=)
c.1680G>T (p.Leu560=)
n.2525G>T
n.2552G>T
c.915G>T (p.Leu305=)
c.9060G>T (p.Leu3020=)
c.5028G>T (p.Leu1676=)
n.2721G>T
c.873G>T (p.Leu291=)
c.2148G>T (p.Leu716=)
c.9048G>T (p.Leu3016=)
c.9045G>T (p.Leu3015=)
c.9057G>T (p.Leu3019=)
c.9036G>T (p.Leu3012=)
c.8691G>T (p.Leu2897=)
c.5037G>T (p.Leu1679=)
c.8931G>T (p.Leu2977=)
c.8922G>T (p.Leu2974=)
c.8937G>T (p.Leu2979=)
c.3234G>T (p.Leu1078=)
 dbSNP
Xg.31444505C>GCA515858198DMDc.3906G>C (p.Leu1302=)
c.1680G>C (p.Leu560=)
n.2525G>C
n.2552G>C
c.915G>C (p.Leu305=)
c.9060G>C (p.Leu3020=)
c.5028G>C (p.Leu1676=)
n.2721G>C
c.873G>C (p.Leu291=)
c.2148G>C (p.Leu716=)
c.9048G>C (p.Leu3016=)
c.9045G>C (p.Leu3015=)
c.9057G>C (p.Leu3019=)
c.9036G>C (p.Leu3012=)
c.8691G>C (p.Leu2897=)
c.5037G>C (p.Leu1679=)
c.8931G>C (p.Leu2977=)
c.8922G>C (p.Leu2974=)
c.8937G>C (p.Leu2979=)
c.3234G>C (p.Leu1078=)
Xg.31444505C>TCA515858197DMDc.3906G>A (p.Leu1302=)
c.1680G>A (p.Leu560=)
n.2525G>A
n.2552G>A
c.915G>A (p.Leu305=)
c.9060G>A (p.Leu3020=)
c.5028G>A (p.Leu1676=)
n.2721G>A
c.873G>A (p.Leu291=)
c.2148G>A (p.Leu716=)
c.9048G>A (p.Leu3016=)
c.9045G>A (p.Leu3015=)
c.9057G>A (p.Leu3019=)
c.9036G>A (p.Leu3012=)
c.8691G>A (p.Leu2897=)
c.5037G>A (p.Leu1679=)
c.8931G>A (p.Leu2977=)
c.8922G>A (p.Leu2974=)
c.8937G>A (p.Leu2979=)
c.3234G>A (p.Leu1078=)
 ClinVar dbSNP
Xg.31444506A>CCA412655080DMDc.3905T>G (p.Leu1302Arg)
c.1679T>G (p.Leu560Arg)
n.2524T>G
n.2551T>G
c.914T>G (p.Leu305Arg)
c.9059T>G (p.Leu3020Arg)
c.5027T>G (p.Leu1676Arg)
n.2720T>G
c.872T>G (p.Leu291Arg)
c.2147T>G (p.Leu716Arg)
c.9047T>G (p.Leu3016Arg)
c.9044T>G (p.Leu3015Arg)
c.9056T>G (p.Leu3019Arg)
c.9035T>G (p.Leu3012Arg)
c.8690T>G (p.Leu2897Arg)
c.5036T>G (p.Leu1679Arg)
c.8930T>G (p.Leu2977Arg)
c.8921T>G (p.Leu2974Arg)
c.8936T>G (p.Leu2979Arg)
c.3233T>G (p.Leu1078Arg)
Xg.31444506A>GCA412655081DMDc.3905T>C (p.Leu1302Pro)
c.1679T>C (p.Leu560Pro)
n.2524T>C
n.2551T>C
c.914T>C (p.Leu305Pro)
c.9059T>C (p.Leu3020Pro)
c.5027T>C (p.Leu1676Pro)
n.2720T>C
c.872T>C (p.Leu291Pro)
c.2147T>C (p.Leu716Pro)
c.9047T>C (p.Leu3016Pro)
c.9044T>C (p.Leu3015Pro)
c.9056T>C (p.Leu3019Pro)
c.9035T>C (p.Leu3012Pro)
c.8690T>C (p.Leu2897Pro)
c.5036T>C (p.Leu1679Pro)
c.8930T>C (p.Leu2977Pro)
c.8921T>C (p.Leu2974Pro)
c.8936T>C (p.Leu2979Pro)
c.3233T>C (p.Leu1078Pro)
Xg.31444506A>TCA412655082DMDc.3905T>A (p.Leu1302Gln)
c.1679T>A (p.Leu560Gln)
n.2524T>A
n.2551T>A
c.914T>A (p.Leu305Gln)
c.9059T>A (p.Leu3020Gln)
c.5027T>A (p.Leu1676Gln)
n.2720T>A
c.872T>A (p.Leu291Gln)
c.2147T>A (p.Leu716Gln)
c.9047T>A (p.Leu3016Gln)
c.9044T>A (p.Leu3015Gln)
c.9056T>A (p.Leu3019Gln)
c.9035T>A (p.Leu3012Gln)
c.8690T>A (p.Leu2897Gln)
c.5036T>A (p.Leu1679Gln)
c.8930T>A (p.Leu2977Gln)
c.8921T>A (p.Leu2974Gln)
c.8936T>A (p.Leu2979Gln)
c.3233T>A (p.Leu1078Gln)
Xg.31444507G>ACA515858199DMDc.3904C>T (p.Leu1302=)
c.1678C>T (p.Leu560=)
n.2523C>T
n.2550C>T
c.913C>T (p.Leu305=)
c.9058C>T (p.Leu3020=)
c.5026C>T (p.Leu1676=)
n.2719C>T
c.871C>T (p.Leu291=)
c.2146C>T (p.Leu716=)
c.9046C>T (p.Leu3016=)
c.9043C>T (p.Leu3015=)
c.9055C>T (p.Leu3019=)
c.9034C>T (p.Leu3012=)
c.8689C>T (p.Leu2897=)
c.5035C>T (p.Leu1679=)
c.8929C>T (p.Leu2977=)
c.8920C>T (p.Leu2974=)
c.8935C>T (p.Leu2979=)
c.3232C>T (p.Leu1078=)
Xg.31444507G>CCA412655083DMDc.3904C>G (p.Leu1302Val)
c.1678C>G (p.Leu560Val)
n.2523C>G
n.2550C>G
c.913C>G (p.Leu305Val)
c.9058C>G (p.Leu3020Val)
c.5026C>G (p.Leu1676Val)
n.2719C>G
c.871C>G (p.Leu291Val)
c.2146C>G (p.Leu716Val)
c.9046C>G (p.Leu3016Val)
c.9043C>G (p.Leu3015Val)
c.9055C>G (p.Leu3019Val)
c.9034C>G (p.Leu3012Val)
c.8689C>G (p.Leu2897Val)
c.5035C>G (p.Leu1679Val)
c.8929C>G (p.Leu2977Val)
c.8920C>G (p.Leu2974Val)
c.8935C>G (p.Leu2979Val)
c.3232C>G (p.Leu1078Val)
Xg.31444507G>TCA412655084DMDc.3904C>A (p.Leu1302Met)
c.1678C>A (p.Leu560Met)
n.2523C>A
n.2550C>A
c.913C>A (p.Leu305Met)
c.9058C>A (p.Leu3020Met)
c.5026C>A (p.Leu1676Met)
n.2719C>A
c.871C>A (p.Leu291Met)
c.2146C>A (p.Leu716Met)
c.9046C>A (p.Leu3016Met)
c.9043C>A (p.Leu3015Met)
c.9055C>A (p.Leu3019Met)
c.9034C>A (p.Leu3012Met)
c.8689C>A (p.Leu2897Met)
c.5035C>A (p.Leu1679Met)
c.8929C>A (p.Leu2977Met)
c.8920C>A (p.Leu2974Met)
c.8935C>A (p.Leu2979Met)
c.3232C>A (p.Leu1078Met)
Xg.31444508G>ACA515858201DMDc.3903C>T (p.Asp1301=)
c.1677C>T (p.Asp559=)
n.2522C>T
n.2549C>T
c.912C>T (p.Asp304=)
c.9057C>T (p.Asp3019=)
c.5025C>T (p.Asp1675=)
n.2718C>T
c.870C>T (p.Asp290=)
c.2145C>T (p.Asp715=)
c.9045C>T (p.Asp3015=)
c.9042C>T (p.Asp3014=)
c.9054C>T (p.Asp3018=)
c.9033C>T (p.Asp3011=)
c.8688C>T (p.Asp2896=)
c.5034C>T (p.Asp1678=)
c.8928C>T (p.Asp2976=)
c.8919C>T (p.Asp2973=)
c.8934C>T (p.Asp2978=)
c.3231C>T (p.Asp1077=)
 gnomAD v4
Xg.31444508G>CCA412655085DMDc.3903C>G (p.Asp1301Glu)
c.1677C>G (p.Asp559Glu)
n.2522C>G
n.2549C>G
c.912C>G (p.Asp304Glu)
c.9057C>G (p.Asp3019Glu)
c.5025C>G (p.Asp1675Glu)
n.2718C>G
c.870C>G (p.Asp290Glu)
c.2145C>G (p.Asp715Glu)
c.9045C>G (p.Asp3015Glu)
c.9042C>G (p.Asp3014Glu)
c.9054C>G (p.Asp3018Glu)
c.9033C>G (p.Asp3011Glu)
c.8688C>G (p.Asp2896Glu)
c.5034C>G (p.Asp1678Glu)
c.8928C>G (p.Asp2976Glu)
c.8919C>G (p.Asp2973Glu)
c.8934C>G (p.Asp2978Glu)
c.3231C>G (p.Asp1077Glu)
Xg.31444508G>TCA412655086DMDc.3903C>A (p.Asp1301Glu)
c.1677C>A (p.Asp559Glu)
n.2522C>A
n.2549C>A
c.912C>A (p.Asp304Glu)
c.9057C>A (p.Asp3019Glu)
c.5025C>A (p.Asp1675Glu)
n.2718C>A
c.870C>A (p.Asp290Glu)
c.2145C>A (p.Asp715Glu)
c.9045C>A (p.Asp3015Glu)
c.9042C>A (p.Asp3014Glu)
c.9054C>A (p.Asp3018Glu)
c.9033C>A (p.Asp3011Glu)
c.8688C>A (p.Asp2896Glu)
c.5034C>A (p.Asp1678Glu)
c.8928C>A (p.Asp2976Glu)
c.8919C>A (p.Asp2973Glu)
c.8934C>A (p.Asp2978Glu)
c.3231C>A (p.Asp1077Glu)
 gnomAD v4
Xg.31444509T>ACA412655087DMDc.3902A>T (p.Asp1301Val)
c.1676A>T (p.Asp559Val)
n.2521A>T
n.2548A>T
c.911A>T (p.Asp304Val)
c.9056A>T (p.Asp3019Val)
c.5024A>T (p.Asp1675Val)
n.2717A>T
c.869A>T (p.Asp290Val)
c.2144A>T (p.Asp715Val)
c.9044A>T (p.Asp3015Val)
c.9041A>T (p.Asp3014Val)
c.9053A>T (p.Asp3018Val)
c.9032A>T (p.Asp3011Val)
c.8687A>T (p.Asp2896Val)
c.5033A>T (p.Asp1678Val)
c.8927A>T (p.Asp2976Val)
c.8918A>T (p.Asp2973Val)
c.8933A>T (p.Asp2978Val)
c.3230A>T (p.Asp1077Val)
Xg.31444509T>CCA412655088DMDc.3902A>G (p.Asp1301Gly)
c.1676A>G (p.Asp559Gly)
n.2521A>G
n.2548A>G
c.911A>G (p.Asp304Gly)
c.9056A>G (p.Asp3019Gly)
c.5024A>G (p.Asp1675Gly)
n.2717A>G
c.869A>G (p.Asp290Gly)
c.2144A>G (p.Asp715Gly)
c.9044A>G (p.Asp3015Gly)
c.9041A>G (p.Asp3014Gly)
c.9053A>G (p.Asp3018Gly)
c.9032A>G (p.Asp3011Gly)
c.8687A>G (p.Asp2896Gly)
c.5033A>G (p.Asp1678Gly)
c.8927A>G (p.Asp2976Gly)
c.8918A>G (p.Asp2973Gly)
c.8933A>G (p.Asp2978Gly)
c.3230A>G (p.Asp1077Gly)
Xg.31444509T>GCA412655089DMDc.3902A>C (p.Asp1301Ala)
c.1676A>C (p.Asp559Ala)
n.2521A>C
n.2548A>C
c.911A>C (p.Asp304Ala)
c.9056A>C (p.Asp3019Ala)
c.5024A>C (p.Asp1675Ala)
n.2717A>C
c.869A>C (p.Asp290Ala)
c.2144A>C (p.Asp715Ala)
c.9044A>C (p.Asp3015Ala)
c.9041A>C (p.Asp3014Ala)
c.9053A>C (p.Asp3018Ala)
c.9032A>C (p.Asp3011Ala)
c.8687A>C (p.Asp2896Ala)
c.5033A>C (p.Asp1678Ala)
c.8927A>C (p.Asp2976Ala)
c.8918A>C (p.Asp2973Ala)
c.8933A>C (p.Asp2978Ala)
c.3230A>C (p.Asp1077Ala)
Xg.31444510delCA2695231833DMDc.3901del (p.Asp1301ThrfsTer2)
c.1675del (p.Asp559ThrfsTer2)
n.2520del
n.2547del
c.910del (p.Asp304ThrfsTer2)
c.9055del (p.Asp3019ThrfsTer2)
c.5023del (p.Asp1675ThrfsTer2)
n.2716del
c.868del (p.Asp290ThrfsTer2)
c.2143del (p.Asp715ThrfsTer2)
c.9043del (p.Asp3015ThrfsTer2)
c.9040del (p.Asp3014ThrfsTer2)
c.9052del (p.Asp3018ThrfsTer2)
c.9031del (p.Asp3011ThrfsTer2)
c.8686del (p.Asp2896ThrfsTer2)
c.5032del (p.Asp1678ThrfsTer2)
c.8926del (p.Asp2976ThrfsTer2)
c.8917del (p.Asp2973ThrfsTer2)
c.8932del (p.Asp2978ThrfsTer2)
c.3229del (p.Asp1077ThrfsTer2)
Xg.31444510C>ACA412655090DMDc.3901G>T (p.Asp1301Tyr)
c.1675G>T (p.Asp559Tyr)
n.2520G>T
n.2547G>T
c.910G>T (p.Asp304Tyr)
c.9055G>T (p.Asp3019Tyr)
c.5023G>T (p.Asp1675Tyr)
n.2716G>T
c.868G>T (p.Asp290Tyr)
c.2143G>T (p.Asp715Tyr)
c.9043G>T (p.Asp3015Tyr)
c.9040G>T (p.Asp3014Tyr)
c.9052G>T (p.Asp3018Tyr)
c.9031G>T (p.Asp3011Tyr)
c.8686G>T (p.Asp2896Tyr)
c.5032G>T (p.Asp1678Tyr)
c.8926G>T (p.Asp2976Tyr)
c.8917G>T (p.Asp2973Tyr)
c.8932G>T (p.Asp2978Tyr)
c.3229G>T (p.Asp1077Tyr)
Xg.31444510C>GCA412655091DMDc.3901G>C (p.Asp1301His)
c.1675G>C (p.Asp559His)
n.2520G>C
n.2547G>C
c.910G>C (p.Asp304His)
c.9055G>C (p.Asp3019His)
c.5023G>C (p.Asp1675His)
n.2716G>C
c.868G>C (p.Asp290His)
c.2143G>C (p.Asp715His)
c.9043G>C (p.Asp3015His)
c.9040G>C (p.Asp3014His)
c.9052G>C (p.Asp3018His)
c.9031G>C (p.Asp3011His)
c.8686G>C (p.Asp2896His)
c.5032G>C (p.Asp1678His)
c.8926G>C (p.Asp2976His)
c.8917G>C (p.Asp2973His)
c.8932G>C (p.Asp2978His)
c.3229G>C (p.Asp1077His)
Xg.31444510C>TCA412655092DMDc.3901G>A (p.Asp1301Asn)
c.1675G>A (p.Asp559Asn)
n.2520G>A
n.2547G>A
c.910G>A (p.Asp304Asn)
c.9055G>A (p.Asp3019Asn)
c.5023G>A (p.Asp1675Asn)
n.2716G>A
c.868G>A (p.Asp290Asn)
c.2143G>A (p.Asp715Asn)
c.9043G>A (p.Asp3015Asn)
c.9040G>A (p.Asp3014Asn)
c.9052G>A (p.Asp3018Asn)
c.9031G>A (p.Asp3011Asn)
c.8686G>A (p.Asp2896Asn)
c.5032G>A (p.Asp1678Asn)
c.8926G>A (p.Asp2976Asn)
c.8917G>A (p.Asp2973Asn)
c.8932G>A (p.Asp2978Asn)
c.3229G>A (p.Asp1077Asn)
Xg.31444511T>ACA412655093DMDc.3900A>T (p.Glu1300Asp)
c.1674A>T (p.Glu558Asp)
n.2519A>T
n.2546A>T
c.909A>T (p.Glu303Asp)
c.9054A>T (p.Glu3018Asp)
c.5022A>T (p.Glu1674Asp)
n.2715A>T
c.867A>T (p.Glu289Asp)
c.2142A>T (p.Glu714Asp)
c.9042A>T (p.Glu3014Asp)
c.9039A>T (p.Glu3013Asp)
c.9051A>T (p.Glu3017Asp)
c.9030A>T (p.Glu3010Asp)
c.8685A>T (p.Glu2895Asp)
c.5031A>T (p.Glu1677Asp)
c.8925A>T (p.Glu2975Asp)
c.8916A>T (p.Glu2972Asp)
c.8931A>T (p.Glu2977Asp)
c.3228A>T (p.Glu1076Asp)
Xg.31444511T>CCA515858203DMDc.3900A>G (p.Glu1300=)
c.1674A>G (p.Glu558=)
n.2519A>G
n.2546A>G
c.909A>G (p.Glu303=)
c.9054A>G (p.Glu3018=)
c.5022A>G (p.Glu1674=)
n.2715A>G
c.867A>G (p.Glu289=)
c.2142A>G (p.Glu714=)
c.9042A>G (p.Glu3014=)
c.9039A>G (p.Glu3013=)
c.9051A>G (p.Glu3017=)
c.9030A>G (p.Glu3010=)
c.8685A>G (p.Glu2895=)
c.5031A>G (p.Glu1677=)
c.8925A>G (p.Glu2975=)
c.8916A>G (p.Glu2972=)
c.8931A>G (p.Glu2977=)
c.3228A>G (p.Glu1076=)
Xg.31444511T>GCA412655094DMDc.3900A>C (p.Glu1300Asp)
c.1674A>C (p.Glu558Asp)
n.2519A>C
n.2546A>C
c.909A>C (p.Glu303Asp)
c.9054A>C (p.Glu3018Asp)
c.5022A>C (p.Glu1674Asp)
n.2715A>C
c.867A>C (p.Glu289Asp)
c.2142A>C (p.Glu714Asp)
c.9042A>C (p.Glu3014Asp)
c.9039A>C (p.Glu3013Asp)
c.9051A>C (p.Glu3017Asp)
c.9030A>C (p.Glu3010Asp)
c.8685A>C (p.Glu2895Asp)
c.5031A>C (p.Glu1677Asp)
c.8925A>C (p.Glu2975Asp)
c.8916A>C (p.Glu2972Asp)
c.8931A>C (p.Glu2977Asp)
c.3228A>C (p.Glu1076Asp)
Xg.31444512T>ACA412655095DMDc.3899A>T (p.Glu1300Val)
c.1673A>T (p.Glu558Val)
n.2518A>T
n.2545A>T
c.908A>T (p.Glu303Val)
c.9053A>T (p.Glu3018Val)
c.5021A>T (p.Glu1674Val)
n.2714A>T
c.866A>T (p.Glu289Val)
c.2141A>T (p.Glu714Val)
c.9041A>T (p.Glu3014Val)
c.9038A>T (p.Glu3013Val)
c.9050A>T (p.Glu3017Val)
c.9029A>T (p.Glu3010Val)
c.8684A>T (p.Glu2895Val)
c.5030A>T (p.Glu1677Val)
c.8924A>T (p.Glu2975Val)
c.8915A>T (p.Glu2972Val)
c.8930A>T (p.Glu2977Val)
c.3227A>T (p.Glu1076Val)
Xg.31444512T>CCA412655097DMDc.3899A>G (p.Glu1300Gly)
c.1673A>G (p.Glu558Gly)
n.2518A>G
n.2545A>G
c.908A>G (p.Glu303Gly)
c.9053A>G (p.Glu3018Gly)
c.5021A>G (p.Glu1674Gly)
n.2714A>G
c.866A>G (p.Glu289Gly)
c.2141A>G (p.Glu714Gly)
c.9041A>G (p.Glu3014Gly)
c.9038A>G (p.Glu3013Gly)
c.9050A>G (p.Glu3017Gly)
c.9029A>G (p.Glu3010Gly)
c.8684A>G (p.Glu2895Gly)
c.5030A>G (p.Glu1677Gly)
c.8924A>G (p.Glu2975Gly)
c.8915A>G (p.Glu2972Gly)
c.8930A>G (p.Glu2977Gly)
c.3227A>G (p.Glu1076Gly)
Xg.31444512T>GCA412655096DMDc.3899A>C (p.Glu1300Ala)
c.1673A>C (p.Glu558Ala)
n.2518A>C
n.2545A>C
c.908A>C (p.Glu303Ala)
c.9053A>C (p.Glu3018Ala)
c.5021A>C (p.Glu1674Ala)
n.2714A>C
c.866A>C (p.Glu289Ala)
c.2141A>C (p.Glu714Ala)
c.9041A>C (p.Glu3014Ala)
c.9038A>C (p.Glu3013Ala)
c.9050A>C (p.Glu3017Ala)
c.9029A>C (p.Glu3010Ala)
c.8684A>C (p.Glu2895Ala)
c.5030A>C (p.Glu1677Ala)
c.8924A>C (p.Glu2975Ala)
c.8915A>C (p.Glu2972Ala)
c.8930A>C (p.Glu2977Ala)
c.3227A>C (p.Glu1076Ala)
Xg.31444513C>ACA412655098DMDc.3898G>T (p.Glu1300Ter)
c.1672G>T (p.Glu558Ter)
n.2517G>T
n.2544G>T
c.907G>T (p.Glu303Ter)
c.9052G>T (p.Glu3018Ter)
c.5020G>T (p.Glu1674Ter)
n.2713G>T
c.865G>T (p.Glu289Ter)
c.2140G>T (p.Glu714Ter)
c.9040G>T (p.Glu3014Ter)
c.9037G>T (p.Glu3013Ter)
c.9049G>T (p.Glu3017Ter)
c.9028G>T (p.Glu3010Ter)
c.8683G>T (p.Glu2895Ter)
c.5029G>T (p.Glu1677Ter)
c.8923G>T (p.Glu2975Ter)
c.8914G>T (p.Glu2972Ter)
c.8929G>T (p.Glu2977Ter)
c.3226G>T (p.Glu1076Ter)
Xg.31444513C>GCA412655099DMDc.3898G>C (p.Glu1300Gln)
c.1672G>C (p.Glu558Gln)
n.2517G>C
n.2544G>C
c.907G>C (p.Glu303Gln)
c.9052G>C (p.Glu3018Gln)
c.5020G>C (p.Glu1674Gln)
n.2713G>C
c.865G>C (p.Glu289Gln)
c.2140G>C (p.Glu714Gln)
c.9040G>C (p.Glu3014Gln)
c.9037G>C (p.Glu3013Gln)
c.9049G>C (p.Glu3017Gln)
c.9028G>C (p.Glu3010Gln)
c.8683G>C (p.Glu2895Gln)
c.5029G>C (p.Glu1677Gln)
c.8923G>C (p.Glu2975Gln)
c.8914G>C (p.Glu2972Gln)
c.8929G>C (p.Glu2977Gln)
c.3226G>C (p.Glu1076Gln)
Xg.31444513C>TCA412655100DMDc.3898G>A (p.Glu1300Lys)
c.1672G>A (p.Glu558Lys)
n.2517G>A
n.2544G>A
c.907G>A (p.Glu303Lys)
c.9052G>A (p.Glu3018Lys)
c.5020G>A (p.Glu1674Lys)
n.2713G>A
c.865G>A (p.Glu289Lys)
c.2140G>A (p.Glu714Lys)
c.9040G>A (p.Glu3014Lys)
c.9037G>A (p.Glu3013Lys)
c.9049G>A (p.Glu3017Lys)
c.9028G>A (p.Glu3010Lys)
c.8683G>A (p.Glu2895Lys)
c.5029G>A (p.Glu1677Lys)
c.8923G>A (p.Glu2975Lys)
c.8914G>A (p.Glu2972Lys)
c.8929G>A (p.Glu2977Lys)
c.3226G>A (p.Glu1076Lys)
 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31444514delCA2573055257DMDc.3898del (p.Glu1300LysfsTer3)
c.1672del (p.Glu558LysfsTer3)
n.2517del
n.2544del
c.907del (p.Glu303LysfsTer3)
c.9052del (p.Glu3018LysfsTer3)
c.5020del (p.Glu1674LysfsTer3)
n.2713del
c.865del (p.Glu289LysfsTer3)
c.2140del (p.Glu714LysfsTer3)
c.9040del (p.Glu3014LysfsTer3)
c.9037del (p.Glu3013LysfsTer3)
c.9049del (p.Glu3017LysfsTer3)
c.9028del (p.Glu3010LysfsTer3)
c.8683del (p.Glu2895LysfsTer3)
c.5029del (p.Glu1677LysfsTer3)
c.8923del (p.Glu2975LysfsTer3)
c.8914del (p.Glu2972LysfsTer3)
c.8929del (p.Glu2977LysfsTer3)
c.3226del (p.Glu1076LysfsTer3)
 dbSNP
Xg.31444514C>ACA515858206DMDc.3897G>T (p.Leu1299=)
c.1671G>T (p.Leu557=)
n.2516G>T
n.2543G>T
c.906G>T (p.Leu302=)
c.9051G>T (p.Leu3017=)
c.5019G>T (p.Leu1673=)
n.2712G>T
c.864G>T (p.Leu288=)
c.2139G>T (p.Leu713=)
c.9039G>T (p.Leu3013=)
c.9036G>T (p.Leu3012=)
c.9048G>T (p.Leu3016=)
c.9027G>T (p.Leu3009=)
c.8682G>T (p.Leu2894=)
c.5028G>T (p.Leu1676=)
c.8922G>T (p.Leu2974=)
c.8913G>T (p.Leu2971=)
c.8928G>T (p.Leu2976=)
c.3225G>T (p.Leu1075=)
Xg.31444514C=CA2422434039DMDc.3897G= (p.Leu1299=)
c.1671G= (p.Leu557=)
n.2516G=
n.2543G=
c.906G= (p.Leu302=)
c.9051G= (p.Leu3017=)
c.5019G= (p.Leu1673=)
n.2712G=
c.864G= (p.Leu288=)
c.2139G= (p.Leu713=)
c.9039G= (p.Leu3013=)
c.9036G= (p.Leu3012=)
c.9048G= (p.Leu3016=)
c.9027G= (p.Leu3009=)
c.8682G= (p.Leu2894=)
c.5028G= (p.Leu1676=)
c.8922G= (p.Leu2974=)
c.8913G= (p.Leu2971=)
c.8928G= (p.Leu2976=)
c.3225G= (p.Leu1075=)
Xg.31444514C>GCA515858207DMDc.3897G>C (p.Leu1299=)
c.1671G>C (p.Leu557=)
n.2516G>C
n.2543G>C
c.906G>C (p.Leu302=)
c.9051G>C (p.Leu3017=)
c.5019G>C (p.Leu1673=)
n.2712G>C
c.864G>C (p.Leu288=)
c.2139G>C (p.Leu713=)
c.9039G>C (p.Leu3013=)
c.9036G>C (p.Leu3012=)
c.9048G>C (p.Leu3016=)
c.9027G>C (p.Leu3009=)
c.8682G>C (p.Leu2894=)
c.5028G>C (p.Leu1676=)
c.8922G>C (p.Leu2974=)
c.8913G>C (p.Leu2971=)
c.8928G>C (p.Leu2976=)
c.3225G>C (p.Leu1075=)
Xg.31444514C>TCA10377932DMDc.3897G>A (p.Leu1299=)
c.1671G>A (p.Leu557=)
n.2516G>A
n.2543G>A
c.906G>A (p.Leu302=)
c.9051G>A (p.Leu3017=)
c.5019G>A (p.Leu1673=)
n.2712G>A
c.864G>A (p.Leu288=)
c.2139G>A (p.Leu713=)
c.9039G>A (p.Leu3013=)
c.9036G>A (p.Leu3012=)
c.9048G>A (p.Leu3016=)
c.9027G>A (p.Leu3009=)
c.8682G>A (p.Leu2894=)
c.5028G>A (p.Leu1676=)
c.8922G>A (p.Leu2974=)
c.8913G>A (p.Leu2971=)
c.8928G>A (p.Leu2976=)
c.3225G>A (p.Leu1075=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31444515A>CCA412655103DMDc.3896T>G (p.Leu1299Arg)
c.1670T>G (p.Leu557Arg)
n.2515T>G
n.2542T>G
c.905T>G (p.Leu302Arg)
c.9050T>G (p.Leu3017Arg)
c.5018T>G (p.Leu1673Arg)
n.2711T>G
c.863T>G (p.Leu288Arg)
c.2138T>G (p.Leu713Arg)
c.9038T>G (p.Leu3013Arg)
c.9035T>G (p.Leu3012Arg)
c.9047T>G (p.Leu3016Arg)
c.9026T>G (p.Leu3009Arg)
c.8681T>G (p.Leu2894Arg)
c.5027T>G (p.Leu1676Arg)
c.8921T>G (p.Leu2974Arg)
c.8912T>G (p.Leu2971Arg)
c.8927T>G (p.Leu2976Arg)
c.3224T>G (p.Leu1075Arg)
Xg.31444515A>GCA412655101DMDc.3896T>C (p.Leu1299Pro)
c.1670T>C (p.Leu557Pro)
n.2515T>C
n.2542T>C
c.905T>C (p.Leu302Pro)
c.9050T>C (p.Leu3017Pro)
c.5018T>C (p.Leu1673Pro)
n.2711T>C
c.863T>C (p.Leu288Pro)
c.2138T>C (p.Leu713Pro)
c.9038T>C (p.Leu3013Pro)
c.9035T>C (p.Leu3012Pro)
c.9047T>C (p.Leu3016Pro)
c.9026T>C (p.Leu3009Pro)
c.8681T>C (p.Leu2894Pro)
c.5027T>C (p.Leu1676Pro)
c.8921T>C (p.Leu2974Pro)
c.8912T>C (p.Leu2971Pro)
c.8927T>C (p.Leu2976Pro)
c.3224T>C (p.Leu1075Pro)
Xg.31444515A>TCA412655102DMDc.3896T>A (p.Leu1299Gln)
c.1670T>A (p.Leu557Gln)
n.2515T>A
n.2542T>A
c.905T>A (p.Leu302Gln)
c.9050T>A (p.Leu3017Gln)
c.5018T>A (p.Leu1673Gln)
n.2711T>A
c.863T>A (p.Leu288Gln)
c.2138T>A (p.Leu713Gln)
c.9038T>A (p.Leu3013Gln)
c.9035T>A (p.Leu3012Gln)
c.9047T>A (p.Leu3016Gln)
c.9026T>A (p.Leu3009Gln)
c.8681T>A (p.Leu2894Gln)
c.5027T>A (p.Leu1676Gln)
c.8921T>A (p.Leu2974Gln)
c.8912T>A (p.Leu2971Gln)
c.8927T>A (p.Leu2976Gln)
c.3224T>A (p.Leu1075Gln)
Xg.31444516G>ACA515858208DMDc.3895C>T (p.Leu1299=)
c.1669C>T (p.Leu557=)
n.2514C>T
n.2541C>T
c.904C>T (p.Leu302=)
c.9049C>T (p.Leu3017=)
c.5017C>T (p.Leu1673=)
n.2710C>T
c.862C>T (p.Leu288=)
c.2137C>T (p.Leu713=)
c.9037C>T (p.Leu3013=)
c.9034C>T (p.Leu3012=)
c.9046C>T (p.Leu3016=)
c.9025C>T (p.Leu3009=)
c.8680C>T (p.Leu2894=)
c.5026C>T (p.Leu1676=)
c.8920C>T (p.Leu2974=)
c.8911C>T (p.Leu2971=)
c.8926C>T (p.Leu2976=)
c.3223C>T (p.Leu1075=)
Xg.31444516G>CCA412655104DMDc.3895C>G (p.Leu1299Val)
c.1669C>G (p.Leu557Val)
n.2514C>G
n.2541C>G
c.904C>G (p.Leu302Val)
c.9049C>G (p.Leu3017Val)
c.5017C>G (p.Leu1673Val)
n.2710C>G
c.862C>G (p.Leu288Val)
c.2137C>G (p.Leu713Val)
c.9037C>G (p.Leu3013Val)
c.9034C>G (p.Leu3012Val)
c.9046C>G (p.Leu3016Val)
c.9025C>G (p.Leu3009Val)
c.8680C>G (p.Leu2894Val)
c.5026C>G (p.Leu1676Val)
c.8920C>G (p.Leu2974Val)
c.8911C>G (p.Leu2971Val)
c.8926C>G (p.Leu2976Val)
c.3223C>G (p.Leu1075Val)
 gnomAD v4
Xg.31444516G>TCA412655105DMDc.3895C>A (p.Leu1299Met)
c.1669C>A (p.Leu557Met)
n.2514C>A
n.2541C>A
c.904C>A (p.Leu302Met)
c.9049C>A (p.Leu3017Met)
c.5017C>A (p.Leu1673Met)
n.2710C>A
c.862C>A (p.Leu288Met)
c.2137C>A (p.Leu713Met)
c.9037C>A (p.Leu3013Met)
c.9034C>A (p.Leu3012Met)
c.9046C>A (p.Leu3016Met)
c.9025C>A (p.Leu3009Met)
c.8680C>A (p.Leu2894Met)
c.5026C>A (p.Leu1676Met)
c.8920C>A (p.Leu2974Met)
c.8911C>A (p.Leu2971Met)
c.8926C>A (p.Leu2976Met)
c.3223C>A (p.Leu1075Met)
Xg.31444517A>CCA515858210DMDc.3894T>G (p.Thr1298=)
c.1668T>G (p.Thr556=)
n.2513T>G
n.2540T>G
c.903T>G (p.Thr301=)
c.9048T>G (p.Thr3016=)
c.5016T>G (p.Thr1672=)
n.2709T>G
c.861T>G (p.Thr287=)
c.2136T>G (p.Thr712=)
c.9036T>G (p.Thr3012=)
c.9033T>G (p.Thr3011=)
c.9045T>G (p.Thr3015=)
c.9024T>G (p.Thr3008=)
c.8679T>G (p.Thr2893=)
c.5025T>G (p.Thr1675=)
c.8919T>G (p.Thr2973=)
c.8910T>G (p.Thr2970=)
c.8925T>G (p.Thr2975=)
c.3222T>G (p.Thr1074=)
Xg.31444517A>GCA515858212DMDc.3894T>C (p.Thr1298=)
c.1668T>C (p.Thr556=)
n.2513T>C
n.2540T>C
c.903T>C (p.Thr301=)
c.9048T>C (p.Thr3016=)
c.5016T>C (p.Thr1672=)
n.2709T>C
c.861T>C (p.Thr287=)
c.2136T>C (p.Thr712=)
c.9036T>C (p.Thr3012=)
c.9033T>C (p.Thr3011=)
c.9045T>C (p.Thr3015=)
c.9024T>C (p.Thr3008=)
c.8679T>C (p.Thr2893=)
c.5025T>C (p.Thr1675=)
c.8919T>C (p.Thr2973=)
c.8910T>C (p.Thr2970=)
c.8925T>C (p.Thr2975=)
c.3222T>C (p.Thr1074=)
 ClinVar
Xg.31444517A>TCA515858213DMDc.3894T>A (p.Thr1298=)
c.1668T>A (p.Thr556=)
n.2513T>A
n.2540T>A
c.903T>A (p.Thr301=)
c.9048T>A (p.Thr3016=)
c.5016T>A (p.Thr1672=)
n.2709T>A
c.861T>A (p.Thr287=)
c.2136T>A (p.Thr712=)
c.9036T>A (p.Thr3012=)
c.9033T>A (p.Thr3011=)
c.9045T>A (p.Thr3015=)
c.9024T>A (p.Thr3008=)
c.8679T>A (p.Thr2893=)
c.5025T>A (p.Thr1675=)
c.8919T>A (p.Thr2973=)
c.8910T>A (p.Thr2970=)
c.8925T>A (p.Thr2975=)
c.3222T>A (p.Thr1074=)
Xg.31444518G>ACA412655106DMDc.3893C>T (p.Thr1298Ile)
c.1667C>T (p.Thr556Ile)
n.2512C>T
n.2539C>T
c.902C>T (p.Thr301Ile)
c.9047C>T (p.Thr3016Ile)
c.5015C>T (p.Thr1672Ile)
n.2708C>T
c.860C>T (p.Thr287Ile)
c.2135C>T (p.Thr712Ile)
c.9035C>T (p.Thr3012Ile)
c.9032C>T (p.Thr3011Ile)
c.9044C>T (p.Thr3015Ile)
c.9023C>T (p.Thr3008Ile)
c.8678C>T (p.Thr2893Ile)
c.5024C>T (p.Thr1675Ile)
c.8918C>T (p.Thr2973Ile)
c.8909C>T (p.Thr2970Ile)
c.8924C>T (p.Thr2975Ile)
c.3221C>T (p.Thr1074Ile)
 ClinVar gnomAD v4
Xg.31444518G>CCA328429787DMDc.3893C>G (p.Thr1298Ser)
c.1667C>G (p.Thr556Ser)
n.2512C>G
n.2539C>G
c.902C>G (p.Thr301Ser)
c.9047C>G (p.Thr3016Ser)
c.5015C>G (p.Thr1672Ser)
n.2708C>G
c.860C>G (p.Thr287Ser)
c.2135C>G (p.Thr712Ser)
c.9035C>G (p.Thr3012Ser)
c.9032C>G (p.Thr3011Ser)
c.9044C>G (p.Thr3015Ser)
c.9023C>G (p.Thr3008Ser)
c.8678C>G (p.Thr2893Ser)
c.5024C>G (p.Thr1675Ser)
c.8918C>G (p.Thr2973Ser)
c.8909C>G (p.Thr2970Ser)
c.8924C>G (p.Thr2975Ser)
c.3221C>G (p.Thr1074Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.31444518G=CA2422434040DMDc.3893C= (p.Thr1298=)
c.1667C= (p.Thr556=)
n.2512C=
n.2539C=
c.902C= (p.Thr301=)
c.9047C= (p.Thr3016=)
c.5015C= (p.Thr1672=)
n.2708C=
c.860C= (p.Thr287=)
c.2135C= (p.Thr712=)
c.9035C= (p.Thr3012=)
c.9032C= (p.Thr3011=)
c.9044C= (p.Thr3015=)
c.9023C= (p.Thr3008=)
c.8678C= (p.Thr2893=)
c.5024C= (p.Thr1675=)
c.8918C= (p.Thr2973=)
c.8909C= (p.Thr2970=)
c.8924C= (p.Thr2975=)
c.3221C= (p.Thr1074=)
Xg.31444518G>TCA412655107DMDc.3893C>A (p.Thr1298Asn)
c.1667C>A (p.Thr556Asn)
n.2512C>A
n.2539C>A
c.902C>A (p.Thr301Asn)
c.9047C>A (p.Thr3016Asn)
c.5015C>A (p.Thr1672Asn)
n.2708C>A
c.860C>A (p.Thr287Asn)
c.2135C>A (p.Thr712Asn)
c.9035C>A (p.Thr3012Asn)
c.9032C>A (p.Thr3011Asn)
c.9044C>A (p.Thr3015Asn)
c.9023C>A (p.Thr3008Asn)
c.8678C>A (p.Thr2893Asn)
c.5024C>A (p.Thr1675Asn)
c.8918C>A (p.Thr2973Asn)
c.8909C>A (p.Thr2970Asn)
c.8924C>A (p.Thr2975Asn)
c.3221C>A (p.Thr1074Asn)
Xg.31444519T>ACA412655108DMDc.3892A>T (p.Thr1298Ser)
c.1666A>T (p.Thr556Ser)
n.2511A>T
n.2538A>T
c.901A>T (p.Thr301Ser)
c.9046A>T (p.Thr3016Ser)
c.5014A>T (p.Thr1672Ser)
n.2707A>T
c.859A>T (p.Thr287Ser)
c.2134A>T (p.Thr712Ser)
c.9034A>T (p.Thr3012Ser)
c.9031A>T (p.Thr3011Ser)
c.9043A>T (p.Thr3015Ser)
c.9022A>T (p.Thr3008Ser)
c.8677A>T (p.Thr2893Ser)
c.5023A>T (p.Thr1675Ser)
c.8917A>T (p.Thr2973Ser)
c.8908A>T (p.Thr2970Ser)
c.8923A>T (p.Thr2975Ser)
c.3220A>T (p.Thr1074Ser)
Xg.31444519T>CCA412655109DMDc.3892A>G (p.Thr1298Ala)
c.1666A>G (p.Thr556Ala)
n.2511A>G
n.2538A>G
c.901A>G (p.Thr301Ala)
c.9046A>G (p.Thr3016Ala)
c.5014A>G (p.Thr1672Ala)
n.2707A>G
c.859A>G (p.Thr287Ala)
c.2134A>G (p.Thr712Ala)
c.9034A>G (p.Thr3012Ala)
c.9031A>G (p.Thr3011Ala)
c.9043A>G (p.Thr3015Ala)
c.9022A>G (p.Thr3008Ala)
c.8677A>G (p.Thr2893Ala)
c.5023A>G (p.Thr1675Ala)
c.8917A>G (p.Thr2973Ala)
c.8908A>G (p.Thr2970Ala)
c.8923A>G (p.Thr2975Ala)
c.3220A>G (p.Thr1074Ala)
Xg.31444519T>GCA412655110DMDc.3892A>C (p.Thr1298Pro)
c.1666A>C (p.Thr556Pro)
n.2511A>C
n.2538A>C
c.901A>C (p.Thr301Pro)
c.9046A>C (p.Thr3016Pro)
c.5014A>C (p.Thr1672Pro)
n.2707A>C
c.859A>C (p.Thr287Pro)
c.2134A>C (p.Thr712Pro)
c.9034A>C (p.Thr3012Pro)
c.9031A>C (p.Thr3011Pro)
c.9043A>C (p.Thr3015Pro)
c.9022A>C (p.Thr3008Pro)
c.8677A>C (p.Thr2893Pro)
c.5023A>C (p.Thr1675Pro)
c.8917A>C (p.Thr2973Pro)
c.8908A>C (p.Thr2970Pro)
c.8923A>C (p.Thr2975Pro)
c.3220A>C (p.Thr1074Pro)
Xg.31444520G>ACA515858215DMDc.3891C>T (p.Ser1297=)
c.1665C>T (p.Ser555=)
n.2510C>T
n.2537C>T
c.900C>T (p.Ser300=)
c.9045C>T (p.Ser3015=)
c.5013C>T (p.Ser1671=)
n.2706C>T
c.858C>T (p.Ser286=)
c.2133C>T (p.Ser711=)
c.9033C>T (p.Ser3011=)
c.9030C>T (p.Ser3010=)
c.9042C>T (p.Ser3014=)
c.9021C>T (p.Ser3007=)
c.8676C>T (p.Ser2892=)
c.5022C>T (p.Ser1674=)
c.8916C>T (p.Ser2972=)
c.8907C>T (p.Ser2969=)
c.8922C>T (p.Ser2974=)
c.3219C>T (p.Ser1073=)
 gnomAD v4
Xg.31444520G>CCA412655111DMDc.3891C>G (p.Ser1297Arg)
c.1665C>G (p.Ser555Arg)
n.2510C>G
n.2537C>G
c.900C>G (p.Ser300Arg)
c.9045C>G (p.Ser3015Arg)
c.5013C>G (p.Ser1671Arg)
n.2706C>G
c.858C>G (p.Ser286Arg)
c.2133C>G (p.Ser711Arg)
c.9033C>G (p.Ser3011Arg)
c.9030C>G (p.Ser3010Arg)
c.9042C>G (p.Ser3014Arg)
c.9021C>G (p.Ser3007Arg)
c.8676C>G (p.Ser2892Arg)
c.5022C>G (p.Ser1674Arg)
c.8916C>G (p.Ser2972Arg)
c.8907C>G (p.Ser2969Arg)
c.8922C>G (p.Ser2974Arg)
c.3219C>G (p.Ser1073Arg)
Xg.31444520G>TCA412655112DMDc.3891C>A (p.Ser1297Arg)
c.1665C>A (p.Ser555Arg)
n.2510C>A
n.2537C>A
c.900C>A (p.Ser300Arg)
c.9045C>A (p.Ser3015Arg)
c.5013C>A (p.Ser1671Arg)
n.2706C>A
c.858C>A (p.Ser286Arg)
c.2133C>A (p.Ser711Arg)
c.9033C>A (p.Ser3011Arg)
c.9030C>A (p.Ser3010Arg)
c.9042C>A (p.Ser3014Arg)
c.9021C>A (p.Ser3007Arg)
c.8676C>A (p.Ser2892Arg)
c.5022C>A (p.Ser1674Arg)
c.8916C>A (p.Ser2972Arg)
c.8907C>A (p.Ser2969Arg)
c.8922C>A (p.Ser2974Arg)
c.3219C>A (p.Ser1073Arg)
Xg.31444521C>ACA412655113DMDc.3890G>T (p.Ser1297Ile)
c.1664G>T (p.Ser555Ile)
n.2509G>T
n.2536G>T
c.899G>T (p.Ser300Ile)
c.9044G>T (p.Ser3015Ile)
c.5012G>T (p.Ser1671Ile)
n.2705G>T
c.857G>T (p.Ser286Ile)
c.2132G>T (p.Ser711Ile)
c.9032G>T (p.Ser3011Ile)
c.9029G>T (p.Ser3010Ile)
c.9041G>T (p.Ser3014Ile)
c.9020G>T (p.Ser3007Ile)
c.8675G>T (p.Ser2892Ile)
c.5021G>T (p.Ser1674Ile)
c.8915G>T (p.Ser2972Ile)
c.8906G>T (p.Ser2969Ile)
c.8921G>T (p.Ser2974Ile)
c.3218G>T (p.Ser1073Ile)
Xg.31444521C>GCA412655114DMDc.3890G>C (p.Ser1297Thr)
c.1664G>C (p.Ser555Thr)
n.2509G>C
n.2536G>C
c.899G>C (p.Ser300Thr)
c.9044G>C (p.Ser3015Thr)
c.5012G>C (p.Ser1671Thr)
n.2705G>C
c.857G>C (p.Ser286Thr)
c.2132G>C (p.Ser711Thr)
c.9032G>C (p.Ser3011Thr)
c.9029G>C (p.Ser3010Thr)
c.9041G>C (p.Ser3014Thr)
c.9020G>C (p.Ser3007Thr)
c.8675G>C (p.Ser2892Thr)
c.5021G>C (p.Ser1674Thr)
c.8915G>C (p.Ser2972Thr)
c.8906G>C (p.Ser2969Thr)
c.8921G>C (p.Ser2974Thr)
c.3218G>C (p.Ser1073Thr)
Xg.31444521C>TCA412655115DMDc.3890G>A (p.Ser1297Asn)
c.1664G>A (p.Ser555Asn)
n.2509G>A
n.2536G>A
c.899G>A (p.Ser300Asn)
c.9044G>A (p.Ser3015Asn)
c.5012G>A (p.Ser1671Asn)
n.2705G>A
c.857G>A (p.Ser286Asn)
c.2132G>A (p.Ser711Asn)
c.9032G>A (p.Ser3011Asn)
c.9029G>A (p.Ser3010Asn)
c.9041G>A (p.Ser3014Asn)
c.9020G>A (p.Ser3007Asn)
c.8675G>A (p.Ser2892Asn)
c.5021G>A (p.Ser1674Asn)
c.8915G>A (p.Ser2972Asn)
c.8906G>A (p.Ser2969Asn)
c.8921G>A (p.Ser2974Asn)
c.3218G>A (p.Ser1073Asn)
Xg.31444522T>ACA412655116DMDc.3889A>T (p.Ser1297Cys)
c.1663A>T (p.Ser555Cys)
n.2508A>T
n.2535A>T
c.898A>T (p.Ser300Cys)
c.9043A>T (p.Ser3015Cys)
c.5011A>T (p.Ser1671Cys)
n.2704A>T
c.856A>T (p.Ser286Cys)
c.2131A>T (p.Ser711Cys)
c.9031A>T (p.Ser3011Cys)
c.9028A>T (p.Ser3010Cys)
c.9040A>T (p.Ser3014Cys)
c.9019A>T (p.Ser3007Cys)
c.8674A>T (p.Ser2892Cys)
c.5020A>T (p.Ser1674Cys)
c.8914A>T (p.Ser2972Cys)
c.8905A>T (p.Ser2969Cys)
c.8920A>T (p.Ser2974Cys)
c.3217A>T (p.Ser1073Cys)
Xg.31444522T>CCA412655118DMDc.3889A>G (p.Ser1297Gly)
c.1663A>G (p.Ser555Gly)
n.2508A>G
n.2535A>G
c.898A>G (p.Ser300Gly)
c.9043A>G (p.Ser3015Gly)
c.5011A>G (p.Ser1671Gly)
n.2704A>G
c.856A>G (p.Ser286Gly)
c.2131A>G (p.Ser711Gly)
c.9031A>G (p.Ser3011Gly)
c.9028A>G (p.Ser3010Gly)
c.9040A>G (p.Ser3014Gly)
c.9019A>G (p.Ser3007Gly)
c.8674A>G (p.Ser2892Gly)
c.5020A>G (p.Ser1674Gly)
c.8914A>G (p.Ser2972Gly)
c.8905A>G (p.Ser2969Gly)
c.8920A>G (p.Ser2974Gly)
c.3217A>G (p.Ser1073Gly)
Xg.31444522T>GCA412655117DMDc.3889A>C (p.Ser1297Arg)
c.1663A>C (p.Ser555Arg)
n.2508A>C
n.2535A>C
c.898A>C (p.Ser300Arg)
c.9043A>C (p.Ser3015Arg)
c.5011A>C (p.Ser1671Arg)
n.2704A>C
c.856A>C (p.Ser286Arg)
c.2131A>C (p.Ser711Arg)
c.9031A>C (p.Ser3011Arg)
c.9028A>C (p.Ser3010Arg)
c.9040A>C (p.Ser3014Arg)
c.9019A>C (p.Ser3007Arg)
c.8674A>C (p.Ser2892Arg)
c.5020A>C (p.Ser1674Arg)
c.8914A>C (p.Ser2972Arg)
c.8905A>C (p.Ser2969Arg)
c.8920A>C (p.Ser2974Arg)
c.3217A>C (p.Ser1073Arg)
Xg.31444523G>ACA515858217DMDc.3888C>T (p.Leu1296=)
c.1662C>T (p.Leu554=)
n.2507C>T
n.2534C>T
c.897C>T (p.Leu299=)
c.9042C>T (p.Leu3014=)
c.5010C>T (p.Leu1670=)
n.2703C>T
c.855C>T (p.Leu285=)
c.2130C>T (p.Leu710=)
c.9030C>T (p.Leu3010=)
c.9027C>T (p.Leu3009=)
c.9039C>T (p.Leu3013=)
c.9018C>T (p.Leu3006=)
c.8673C>T (p.Leu2891=)
c.5019C>T (p.Leu1673=)
c.8913C>T (p.Leu2971=)
c.8904C>T (p.Leu2968=)
c.8919C>T (p.Leu2973=)
c.3216C>T (p.Leu1072=)
 dbSNP gnomAD v3 gnomAD v4
Xg.31444523G>CCA515858218DMDc.3888C>G (p.Leu1296=)
c.1662C>G (p.Leu554=)
n.2507C>G
n.2534C>G
c.897C>G (p.Leu299=)
c.9042C>G (p.Leu3014=)
c.5010C>G (p.Leu1670=)
n.2703C>G
c.855C>G (p.Leu285=)
c.2130C>G (p.Leu710=)
c.9030C>G (p.Leu3010=)
c.9027C>G (p.Leu3009=)
c.9039C>G (p.Leu3013=)
c.9018C>G (p.Leu3006=)
c.8673C>G (p.Leu2891=)
c.5019C>G (p.Leu1673=)
c.8913C>G (p.Leu2971=)
c.8904C>G (p.Leu2968=)
c.8919C>G (p.Leu2973=)
c.3216C>G (p.Leu1072=)
Xg.31444523G=CA2422434041DMDc.3888C= (p.Leu1296=)
c.1662C= (p.Leu554=)
n.2507C=
n.2534C=
c.897C= (p.Leu299=)
c.9042C= (p.Leu3014=)
c.5010C= (p.Leu1670=)
n.2703C=
c.855C= (p.Leu285=)
c.2130C= (p.Leu710=)
c.9030C= (p.Leu3010=)
c.9027C= (p.Leu3009=)
c.9039C= (p.Leu3013=)
c.9018C= (p.Leu3006=)
c.8673C= (p.Leu2891=)
c.5019C= (p.Leu1673=)
c.8913C= (p.Leu2971=)
c.8904C= (p.Leu2968=)
c.8919C= (p.Leu2973=)
c.3216C= (p.Leu1072=)
Xg.31444523G>TCA515858219DMDc.3888C>A (p.Leu1296=)
c.1662C>A (p.Leu554=)
n.2507C>A
n.2534C>A
c.897C>A (p.Leu299=)
c.9042C>A (p.Leu3014=)
c.5010C>A (p.Leu1670=)
n.2703C>A
c.855C>A (p.Leu285=)
c.2130C>A (p.Leu710=)
c.9030C>A (p.Leu3010=)
c.9027C>A (p.Leu3009=)
c.9039C>A (p.Leu3013=)
c.9018C>A (p.Leu3006=)
c.8673C>A (p.Leu2891=)
c.5019C>A (p.Leu1673=)
c.8913C>A (p.Leu2971=)
c.8904C>A (p.Leu2968=)
c.8919C>A (p.Leu2973=)
c.3216C>A (p.Leu1072=)
Xg.31444524A=CA2422434042DMDc.3887T= (p.Leu1296=)
c.1661T= (p.Leu554=)
n.2506T=
n.2533T=
c.896T= (p.Leu299=)
c.9041T= (p.Leu3014=)
c.5009T= (p.Leu1670=)
n.2702T=
c.854T= (p.Leu285=)
c.2129T= (p.Leu710=)
c.9029T= (p.Leu3010=)
c.9026T= (p.Leu3009=)
c.9038T= (p.Leu3013=)
c.9017T= (p.Leu3006=)
c.8672T= (p.Leu2891=)
c.5018T= (p.Leu1673=)
c.8912T= (p.Leu2971=)
c.8903T= (p.Leu2968=)
c.8918T= (p.Leu2973=)
c.3215T= (p.Leu1072=)
Xg.31444524A>CCA412655119DMDc.3887T>G (p.Leu1296Arg)
c.1661T>G (p.Leu554Arg)
n.2506T>G
n.2533T>G
c.896T>G (p.Leu299Arg)
c.9041T>G (p.Leu3014Arg)
c.5009T>G (p.Leu1670Arg)
n.2702T>G
c.854T>G (p.Leu285Arg)
c.2129T>G (p.Leu710Arg)
c.9029T>G (p.Leu3010Arg)
c.9026T>G (p.Leu3009Arg)
c.9038T>G (p.Leu3013Arg)
c.9017T>G (p.Leu3006Arg)
c.8672T>G (p.Leu2891Arg)
c.5018T>G (p.Leu1673Arg)
c.8912T>G (p.Leu2971Arg)
c.8903T>G (p.Leu2968Arg)
c.8918T>G (p.Leu2973Arg)
c.3215T>G (p.Leu1072Arg)
Xg.31444524A>GCA412655120DMDc.3887T>C (p.Leu1296Pro)
c.1661T>C (p.Leu554Pro)
n.2506T>C
n.2533T>C
c.896T>C (p.Leu299Pro)
c.9041T>C (p.Leu3014Pro)
c.5009T>C (p.Leu1670Pro)
n.2702T>C
c.854T>C (p.Leu285Pro)
c.2129T>C (p.Leu710Pro)
c.9029T>C (p.Leu3010Pro)
c.9026T>C (p.Leu3009Pro)
c.9038T>C (p.Leu3013Pro)
c.9017T>C (p.Leu3006Pro)
c.8672T>C (p.Leu2891Pro)
c.5018T>C (p.Leu1673Pro)
c.8912T>C (p.Leu2971Pro)
c.8903T>C (p.Leu2968Pro)
c.8918T>C (p.Leu2973Pro)
c.3215T>C (p.Leu1072Pro)
Xg.31444524A>TCA412655121DMDc.3887T>A (p.Leu1296His)
c.1661T>A (p.Leu554His)
n.2506T>A
n.2533T>A
c.896T>A (p.Leu299His)
c.9041T>A (p.Leu3014His)
c.5009T>A (p.Leu1670His)
n.2702T>A
c.854T>A (p.Leu285His)
c.2129T>A (p.Leu710His)
c.9029T>A (p.Leu3010His)
c.9026T>A (p.Leu3009His)
c.9038T>A (p.Leu3013His)
c.9017T>A (p.Leu3006His)
c.8672T>A (p.Leu2891His)
c.5018T>A (p.Leu1673His)
c.8912T>A (p.Leu2971His)
c.8903T>A (p.Leu2968His)
c.8918T>A (p.Leu2973His)
c.3215T>A (p.Leu1072His)
Xg.31444525_31444531delCA2573055258DMDc.3881_3887del (p.Tyr1294SerfsTer7)
c.1655_1661del (p.Tyr552SerfsTer7)
n.2500_2506del
n.2527_2533del
c.890_896del (p.Tyr297SerfsTer7)
c.9035_9041del (p.Tyr3012SerfsTer7)
c.5003_5009del (p.Tyr1668SerfsTer7)
n.2696_2702del
c.848_854del (p.Tyr283SerfsTer7)
c.2123_2129del (p.Tyr708SerfsTer7)
c.9023_9029del (p.Tyr3008SerfsTer7)
c.9020_9026del (p.Tyr3007SerfsTer7)
c.9032_9038del (p.Tyr3011SerfsTer7)
c.9011_9017del (p.Tyr3004SerfsTer7)
c.8666_8672del (p.Tyr2889SerfsTer7)
c.5012_5018del (p.Tyr1671SerfsTer7)
c.8906_8912del (p.Tyr2969SerfsTer7)
c.8897_8903del (p.Tyr2966SerfsTer7)
c.8912_8918del (p.Tyr2971SerfsTer7)
c.3209_3215del (p.Tyr1070SerfsTer7)
 dbSNP
Xg.31444524_31444532delinsAGGTTATACCA2422434043DMDc.3879_3887delinsGTATAACCT (p.Pro1293=)
c.1653_1661delinsGTATAACCT (p.Pro551=)
n.2498_2506delinsGTATAACCT
n.2525_2533delinsGTATAACCT
c.888_896delinsGTATAACCT (p.Pro296=)
c.9033_9041delinsGTATAACCT (p.Pro3011=)
c.5001_5009delinsGTATAACCT (p.Pro1667=)
n.2694_2702delinsGTATAACCT
c.846_854delinsGTATAACCT (p.Pro282=)
c.2121_2129delinsGTATAACCT (p.Pro707=)
c.9021_9029delinsGTATAACCT (p.Pro3007=)
c.9018_9026delinsGTATAACCT (p.Pro3006=)
c.9030_9038delinsGTATAACCT (p.Pro3010=)
c.9009_9017delinsGTATAACCT (p.Pro3003=)
c.8664_8672delinsGTATAACCT (p.Pro2888=)
c.5010_5018delinsGTATAACCT (p.Pro1670=)
c.8904_8912delinsGTATAACCT (p.Pro2968=)
c.8895_8903delinsGTATAACCT (p.Pro2965=)
c.8910_8918delinsGTATAACCT (p.Pro2970=)
c.3207_3215delinsGTATAACCT (p.Pro1069=)
Xg.31444525G>ACA10377933DMDc.3886C>T (p.Leu1296Phe)
c.1660C>T (p.Leu554Phe)
n.2505C>T
n.2532C>T
c.895C>T (p.Leu299Phe)
c.9040C>T (p.Leu3014Phe)
c.5008C>T (p.Leu1670Phe)
n.2701C>T
c.853C>T (p.Leu285Phe)
c.2128C>T (p.Leu710Phe)
c.9028C>T (p.Leu3010Phe)
c.9025C>T (p.Leu3009Phe)
c.9037C>T (p.Leu3013Phe)
c.9016C>T (p.Leu3006Phe)
c.8671C>T (p.Leu2891Phe)
c.5017C>T (p.Leu1673Phe)
c.8911C>T (p.Leu2971Phe)
c.8902C>T (p.Leu2968Phe)
c.8917C>T (p.Leu2973Phe)
c.3214C>T (p.Leu1072Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31444525G>CCA412655122DMDc.3886C>G (p.Leu1296Val)
c.1660C>G (p.Leu554Val)
n.2505C>G
n.2532C>G
c.895C>G (p.Leu299Val)
c.9040C>G (p.Leu3014Val)
c.5008C>G (p.Leu1670Val)
n.2701C>G
c.853C>G (p.Leu285Val)
c.2128C>G (p.Leu710Val)
c.9028C>G (p.Leu3010Val)
c.9025C>G (p.Leu3009Val)
c.9037C>G (p.Leu3013Val)
c.9016C>G (p.Leu3006Val)
c.8671C>G (p.Leu2891Val)
c.5017C>G (p.Leu1673Val)
c.8911C>G (p.Leu2971Val)
c.8902C>G (p.Leu2968Val)
c.8917C>G (p.Leu2973Val)
c.3214C>G (p.Leu1072Val)
Xg.31444525G=CA2422434044DMDc.3886C= (p.Leu1296=)
c.1660C= (p.Leu554=)
n.2505C=
n.2532C=
c.895C= (p.Leu299=)
c.9040C= (p.Leu3014=)
c.5008C= (p.Leu1670=)
n.2701C=
c.853C= (p.Leu285=)
c.2128C= (p.Leu710=)
c.9028C= (p.Leu3010=)
c.9025C= (p.Leu3009=)
c.9037C= (p.Leu3013=)
c.9016C= (p.Leu3006=)
c.8671C= (p.Leu2891=)
c.5017C= (p.Leu1673=)
c.8911C= (p.Leu2971=)
c.8902C= (p.Leu2968=)
c.8917C= (p.Leu2973=)
c.3214C= (p.Leu1072=)
Xg.31444525G>TCA412655123DMDc.3886C>A (p.Leu1296Ile)
c.1660C>A (p.Leu554Ile)
n.2505C>A
n.2532C>A
c.895C>A (p.Leu299Ile)
c.9040C>A (p.Leu3014Ile)
c.5008C>A (p.Leu1670Ile)
n.2701C>A
c.853C>A (p.Leu285Ile)
c.2128C>A (p.Leu710Ile)
c.9028C>A (p.Leu3010Ile)
c.9025C>A (p.Leu3009Ile)
c.9037C>A (p.Leu3013Ile)
c.9016C>A (p.Leu3006Ile)
c.8671C>A (p.Leu2891Ile)
c.5017C>A (p.Leu1673Ile)
c.8911C>A (p.Leu2971Ile)
c.8902C>A (p.Leu2968Ile)
c.8917C>A (p.Leu2973Ile)
c.3214C>A (p.Leu1072Ile)
Xg.31444526dupCA16616474DMDc.3886dup (p.Leu1296ProfsTer27)
c.1660dup (p.Leu554ProfsTer27)
n.2505dup
n.2532dup
c.895dup (p.Leu299ProfsTer27)
c.9040dup (p.Leu3014ProfsTer27)
c.5008dup (p.Leu1670ProfsTer27)
n.2701dup
c.853dup (p.Leu285ProfsTer27)
c.2128dup (p.Leu710ProfsTer27)
c.9028dup (p.Leu3010ProfsTer27)
c.9025dup (p.Leu3009ProfsTer27)
c.9037dup (p.Leu3013ProfsTer27)
c.9016dup (p.Leu3006ProfsTer27)
c.8671dup (p.Leu2891ProfsTer27)
c.5017dup (p.Leu1673ProfsTer27)
c.8911dup (p.Leu2971ProfsTer27)
c.8902dup (p.Leu2968ProfsTer27)
c.8917dup (p.Leu2973ProfsTer27)
c.3214dup (p.Leu1072ProfsTer27)
 ClinVar dbSNP
Xg.31444528_31444535delCA915950938DMDc.3879_3886del (p.Tyr1294GlnfsTer26)
c.1653_1660del (p.Tyr552GlnfsTer26)
n.2498_2505del
n.2525_2532del
c.888_895del (p.Tyr297GlnfsTer26)
c.9033_9040del (p.Tyr3012GlnfsTer26)
c.5001_5008del (p.Tyr1668GlnfsTer26)
n.2694_2701del
c.846_853del (p.Tyr283GlnfsTer26)
c.2121_2128del (p.Tyr708GlnfsTer26)
c.9021_9028del (p.Tyr3008GlnfsTer26)
c.9018_9025del (p.Tyr3007GlnfsTer26)
c.9030_9037del (p.Tyr3011GlnfsTer26)
c.9009_9016del (p.Tyr3004GlnfsTer26)
c.8664_8671del (p.Tyr2889GlnfsTer26)
c.5010_5017del (p.Tyr1671GlnfsTer26)
c.8904_8911del (p.Tyr2969GlnfsTer26)
c.8895_8902del (p.Tyr2966GlnfsTer26)
c.8910_8917del (p.Tyr2971GlnfsTer26)
c.3207_3214del (p.Tyr1070GlnfsTer26)
 ClinVar dbSNP
Xg.31444526G>ACA515858220DMDc.3885C>T (p.Asn1295=)
c.1659C>T (p.Asn553=)
n.2504C>T
n.2531C>T
c.894C>T (p.Asn298=)
c.9039C>T (p.Asn3013=)
c.5007C>T (p.Asn1669=)
n.2700C>T
c.852C>T (p.Asn284=)
c.2127C>T (p.Asn709=)
c.9027C>T (p.Asn3009=)
c.9024C>T (p.Asn3008=)
c.9036C>T (p.Asn3012=)
c.9015C>T (p.Asn3005=)
c.8670C>T (p.Asn2890=)
c.5016C>T (p.Asn1672=)
c.8910C>T (p.Asn2970=)
c.8901C>T (p.Asn2967=)
c.8916C>T (p.Asn2972=)
c.3213C>T (p.Asn1071=)
 ClinVar dbSNP
Xg.31444526G>CCA412655124DMDc.3885C>G (p.Asn1295Lys)
c.1659C>G (p.Asn553Lys)
n.2504C>G
n.2531C>G
c.894C>G (p.Asn298Lys)
c.9039C>G (p.Asn3013Lys)
c.5007C>G (p.Asn1669Lys)
n.2700C>G
c.852C>G (p.Asn284Lys)
c.2127C>G (p.Asn709Lys)
c.9027C>G (p.Asn3009Lys)
c.9024C>G (p.Asn3008Lys)
c.9036C>G (p.Asn3012Lys)
c.9015C>G (p.Asn3005Lys)
c.8670C>G (p.Asn2890Lys)
c.5016C>G (p.Asn1672Lys)
c.8910C>G (p.Asn2970Lys)
c.8901C>G (p.Asn2967Lys)
c.8916C>G (p.Asn2972Lys)
c.3213C>G (p.Asn1071Lys)
Xg.31444526G=CA2422434045DMDc.3885C= (p.Asn1295=)
c.1659C= (p.Asn553=)
n.2504C=
n.2531C=
c.894C= (p.Asn298=)
c.9039C= (p.Asn3013=)
c.5007C= (p.Asn1669=)
n.2700C=
c.852C= (p.Asn284=)
c.2127C= (p.Asn709=)
c.9027C= (p.Asn3009=)
c.9024C= (p.Asn3008=)
c.9036C= (p.Asn3012=)
c.9015C= (p.Asn3005=)
c.8670C= (p.Asn2890=)
c.5016C= (p.Asn1672=)
c.8910C= (p.Asn2970=)
c.8901C= (p.Asn2967=)
c.8916C= (p.Asn2972=)
c.3213C= (p.Asn1071=)
Xg.31444526G>TCA412655125DMDc.3885C>A (p.Asn1295Lys)
c.1659C>A (p.Asn553Lys)
n.2504C>A
n.2531C>A
c.894C>A (p.Asn298Lys)
c.9039C>A (p.Asn3013Lys)
c.5007C>A (p.Asn1669Lys)
n.2700C>A
c.852C>A (p.Asn284Lys)
c.2127C>A (p.Asn709Lys)
c.9027C>A (p.Asn3009Lys)
c.9024C>A (p.Asn3008Lys)
c.9036C>A (p.Asn3012Lys)
c.9015C>A (p.Asn3005Lys)
c.8670C>A (p.Asn2890Lys)
c.5016C>A (p.Asn1672Lys)
c.8910C>A (p.Asn2970Lys)
c.8901C>A (p.Asn2967Lys)
c.8916C>A (p.Asn2972Lys)
c.3213C>A (p.Asn1071Lys)
Xg.31444526_31444527insATAGGATATTTTATATTAGTCA2422434046DMDc.3884_3885insACTAATATAAAATATCCTAT (p.Asn1295LysfsTer4)
c.1658_1659insACTAATATAAAATATCCTAT (p.Asn553LysfsTer4)
n.2503_2504insACTAATATAAAATATCCTAT
n.2530_2531insACTAATATAAAATATCCTAT
c.893_894insACTAATATAAAATATCCTAT (p.Asn298LysfsTer4)
c.9038_9039insACTAATATAAAATATCCTAT (p.Asn3013LysfsTer4)
c.5006_5007insACTAATATAAAATATCCTAT (p.Asn1669LysfsTer4)
n.2699_2700insACTAATATAAAATATCCTAT
c.851_852insACTAATATAAAATATCCTAT (p.Asn284LysfsTer4)
c.2126_2127insACTAATATAAAATATCCTAT (p.Asn709LysfsTer4)
c.9026_9027insACTAATATAAAATATCCTAT (p.Asn3009LysfsTer4)
c.9023_9024insACTAATATAAAATATCCTAT (p.Asn3008LysfsTer4)
c.9035_9036insACTAATATAAAATATCCTAT (p.Asn3012LysfsTer4)
c.9014_9015insACTAATATAAAATATCCTAT (p.Asn3005LysfsTer4)
c.8669_8670insACTAATATAAAATATCCTAT (p.Asn2890LysfsTer4)
c.5015_5016insACTAATATAAAATATCCTAT (p.Asn1672LysfsTer4)
c.8909_8910insACTAATATAAAATATCCTAT (p.Asn2970LysfsTer4)
c.8900_8901insACTAATATAAAATATCCTAT (p.Asn2967LysfsTer4)
c.8915_8916insACTAATATAAAATATCCTAT (p.Asn2972LysfsTer4)
c.3212_3213insACTAATATAAAATATCCTAT (p.Asn1071LysfsTer4)
 dbSNP
Xg.31444527T>ACA412655126DMDc.3884A>T (p.Asn1295Ile)
c.1658A>T (p.Asn553Ile)
n.2503A>T
n.2530A>T
c.893A>T (p.Asn298Ile)
c.9038A>T (p.Asn3013Ile)
c.5006A>T (p.Asn1669Ile)
n.2699A>T
c.851A>T (p.Asn284Ile)
c.2126A>T (p.Asn709Ile)
c.9026A>T (p.Asn3009Ile)
c.9023A>T (p.Asn3008Ile)
c.9035A>T (p.Asn3012Ile)
c.9014A>T (p.Asn3005Ile)
c.8669A>T (p.Asn2890Ile)
c.5015A>T (p.Asn1672Ile)
c.8909A>T (p.Asn2970Ile)
c.8900A>T (p.Asn2967Ile)
c.8915A>T (p.Asn2972Ile)
c.3212A>T (p.Asn1071Ile)
Xg.31444527T>CCA412655127DMDc.3884A>G (p.Asn1295Ser)
c.1658A>G (p.Asn553Ser)
n.2503A>G
n.2530A>G
c.893A>G (p.Asn298Ser)
c.9038A>G (p.Asn3013Ser)
c.5006A>G (p.Asn1669Ser)
n.2699A>G
c.851A>G (p.Asn284Ser)
c.2126A>G (p.Asn709Ser)
c.9026A>G (p.Asn3009Ser)
c.9023A>G (p.Asn3008Ser)
c.9035A>G (p.Asn3012Ser)
c.9014A>G (p.Asn3005Ser)
c.8669A>G (p.Asn2890Ser)
c.5015A>G (p.Asn1672Ser)
c.8909A>G (p.Asn2970Ser)
c.8900A>G (p.Asn2967Ser)
c.8915A>G (p.Asn2972Ser)
c.3212A>G (p.Asn1071Ser)
Xg.31444527T>GCA412655128DMDc.3884A>C (p.Asn1295Thr)
c.1658A>C (p.Asn553Thr)
n.2503A>C
n.2530A>C
c.893A>C (p.Asn298Thr)
c.9038A>C (p.Asn3013Thr)
c.5006A>C (p.Asn1669Thr)
n.2699A>C
c.851A>C (p.Asn284Thr)
c.2126A>C (p.Asn709Thr)
c.9026A>C (p.Asn3009Thr)
c.9023A>C (p.Asn3008Thr)
c.9035A>C (p.Asn3012Thr)
c.9014A>C (p.Asn3005Thr)
c.8669A>C (p.Asn2890Thr)
c.5015A>C (p.Asn1672Thr)
c.8909A>C (p.Asn2970Thr)
c.8900A>C (p.Asn2967Thr)
c.8915A>C (p.Asn2972Thr)
c.3212A>C (p.Asn1071Thr)
Xg.31444528_31444542dupCA10377934DMDc.3870_3884dup (p.Tyr1294_Asn1295insLysLeuSerProTyr)
c.1644_1658dup (p.Tyr552_Asn553insLysLeuSerProTyr)
n.2489_2503dup
n.2516_2530dup
c.879_893dup (p.Tyr297_Asn298insLysLeuSerProTyr)
c.9024_9038dup (p.Tyr3012_Asn3013insLysLeuSerProTyr)
c.4992_5006dup (p.Tyr1668_Asn1669insLysLeuSerProTyr)
n.2685_2699dup
c.837_851dup (p.Tyr283_Asn284insLysLeuSerProTyr)
c.2112_2126dup (p.Tyr708_Asn709insLysLeuSerProTyr)
c.9012_9026dup (p.Tyr3008_Asn3009insLysLeuSerProTyr)
c.9009_9023dup (p.Tyr3007_Asn3008insLysLeuSerProTyr)
c.9021_9035dup (p.Tyr3011_Asn3012insLysLeuSerProTyr)
c.9000_9014dup (p.Tyr3004_Asn3005insLysLeuSerProTyr)
c.8655_8669dup (p.Tyr2889_Asn2890insLysLeuSerProTyr)
c.5001_5015dup (p.Tyr1671_Asn1672insLysLeuSerProTyr)
c.8895_8909dup (p.Tyr2969_Asn2970insLysLeuSerProTyr)
c.8886_8900dup (p.Tyr2966_Asn2967insLysLeuSerProTyr)
c.8901_8915dup (p.Tyr2971_Asn2972insLysLeuSerProTyr)
c.3198_3212dup (p.Tyr1070_Asn1071insLysLeuSerProTyr)
 dbSNP ExAC
Xg.31444528T>ACA412655131DMDc.3883A>T (p.Asn1295Tyr)
c.1657A>T (p.Asn553Tyr)
n.2502A>T
n.2529A>T
c.892A>T (p.Asn298Tyr)
c.9037A>T (p.Asn3013Tyr)
c.5005A>T (p.Asn1669Tyr)
n.2698A>T
c.850A>T (p.Asn284Tyr)
c.2125A>T (p.Asn709Tyr)
c.9025A>T (p.Asn3009Tyr)
c.9022A>T (p.Asn3008Tyr)
c.9034A>T (p.Asn3012Tyr)
c.9013A>T (p.Asn3005Tyr)
c.8668A>T (p.Asn2890Tyr)
c.5014A>T (p.Asn1672Tyr)
c.8908A>T (p.Asn2970Tyr)
c.8899A>T (p.Asn2967Tyr)
c.8914A>T (p.Asn2972Tyr)
c.3211A>T (p.Asn1071Tyr)
Xg.31444528T>CCA412655130DMDc.3883A>G (p.Asn1295Asp)
c.1657A>G (p.Asn553Asp)
n.2502A>G
n.2529A>G
c.892A>G (p.Asn298Asp)
c.9037A>G (p.Asn3013Asp)
c.5005A>G (p.Asn1669Asp)
n.2698A>G
c.850A>G (p.Asn284Asp)
c.2125A>G (p.Asn709Asp)
c.9025A>G (p.Asn3009Asp)
c.9022A>G (p.Asn3008Asp)
c.9034A>G (p.Asn3012Asp)
c.9013A>G (p.Asn3005Asp)
c.8668A>G (p.Asn2890Asp)
c.5014A>G (p.Asn1672Asp)
c.8908A>G (p.Asn2970Asp)
c.8899A>G (p.Asn2967Asp)
c.8914A>G (p.Asn2972Asp)
c.3211A>G (p.Asn1071Asp)
Xg.31444528T>GCA412655129DMDc.3883A>C (p.Asn1295His)
c.1657A>C (p.Asn553His)
n.2502A>C
n.2529A>C
c.892A>C (p.Asn298His)
c.9037A>C (p.Asn3013His)
c.5005A>C (p.Asn1669His)
n.2698A>C
c.850A>C (p.Asn284His)
c.2125A>C (p.Asn709His)
c.9025A>C (p.Asn3009His)
c.9022A>C (p.Asn3008His)
c.9034A>C (p.Asn3012His)
c.9013A>C (p.Asn3005His)
c.8668A>C (p.Asn2890His)
c.5014A>C (p.Asn1672His)
c.8908A>C (p.Asn2970His)
c.8899A>C (p.Asn2967His)
c.8914A>C (p.Asn2972His)
c.3211A>C (p.Asn1071His)
Xg.31444529A>CCA412655132DMDc.3882T>G (p.Tyr1294Ter)
c.1656T>G (p.Tyr552Ter)
n.2501T>G
n.2528T>G
c.891T>G (p.Tyr297Ter)
c.9036T>G (p.Tyr3012Ter)
c.5004T>G (p.Tyr1668Ter)
n.2697T>G
c.849T>G (p.Tyr283Ter)
c.2124T>G (p.Tyr708Ter)
c.9024T>G (p.Tyr3008Ter)
c.9021T>G (p.Tyr3007Ter)
c.9033T>G (p.Tyr3011Ter)
c.9012T>G (p.Tyr3004Ter)
c.8667T>G (p.Tyr2889Ter)
c.5013T>G (p.Tyr1671Ter)
c.8907T>G (p.Tyr2969Ter)
c.8898T>G (p.Tyr2966Ter)
c.8913T>G (p.Tyr2971Ter)
c.3210T>G (p.Tyr1070Ter)
Xg.31444529A>GCA515858222DMDc.3882T>C (p.Tyr1294=)
c.1656T>C (p.Tyr552=)
n.2501T>C
n.2528T>C
c.891T>C (p.Tyr297=)
c.9036T>C (p.Tyr3012=)
c.5004T>C (p.Tyr1668=)
n.2697T>C
c.849T>C (p.Tyr283=)
c.2124T>C (p.Tyr708=)
c.9024T>C (p.Tyr3008=)
c.9021T>C (p.Tyr3007=)
c.9033T>C (p.Tyr3011=)
c.9012T>C (p.Tyr3004=)
c.8667T>C (p.Tyr2889=)
c.5013T>C (p.Tyr1671=)
c.8907T>C (p.Tyr2969=)
c.8898T>C (p.Tyr2966=)
c.8913T>C (p.Tyr2971=)
c.3210T>C (p.Tyr1070=)
Xg.31444529A>TCA412655133DMDc.3882T>A (p.Tyr1294Ter)
c.1656T>A (p.Tyr552Ter)
n.2501T>A
n.2528T>A
c.891T>A (p.Tyr297Ter)
c.9036T>A (p.Tyr3012Ter)
c.5004T>A (p.Tyr1668Ter)
n.2697T>A
c.849T>A (p.Tyr283Ter)
c.2124T>A (p.Tyr708Ter)
c.9024T>A (p.Tyr3008Ter)
c.9021T>A (p.Tyr3007Ter)
c.9033T>A (p.Tyr3011Ter)
c.9012T>A (p.Tyr3004Ter)
c.8667T>A (p.Tyr2889Ter)
c.5013T>A (p.Tyr1671Ter)
c.8907T>A (p.Tyr2969Ter)
c.8898T>A (p.Tyr2966Ter)
c.8913T>A (p.Tyr2971Ter)
c.3210T>A (p.Tyr1070Ter)
 dbSNP
Xg.31444530T>ACA412655134DMDc.3881A>T (p.Tyr1294Phe)
c.1655A>T (p.Tyr552Phe)
n.2500A>T
n.2527A>T
c.890A>T (p.Tyr297Phe)
c.9035A>T (p.Tyr3012Phe)
c.5003A>T (p.Tyr1668Phe)
n.2696A>T
c.848A>T (p.Tyr283Phe)
c.2123A>T (p.Tyr708Phe)
c.9023A>T (p.Tyr3008Phe)
c.9020A>T (p.Tyr3007Phe)
c.9032A>T (p.Tyr3011Phe)
c.9011A>T (p.Tyr3004Phe)
c.8666A>T (p.Tyr2889Phe)
c.5012A>T (p.Tyr1671Phe)
c.8906A>T (p.Tyr2969Phe)
c.8897A>T (p.Tyr2966Phe)
c.8912A>T (p.Tyr2971Phe)
c.3209A>T (p.Tyr1070Phe)
Xg.31444530T>CCA412655135DMDc.3881A>G (p.Tyr1294Cys)
c.1655A>G (p.Tyr552Cys)
n.2500A>G
n.2527A>G
c.890A>G (p.Tyr297Cys)
c.9035A>G (p.Tyr3012Cys)
c.5003A>G (p.Tyr1668Cys)
n.2696A>G
c.848A>G (p.Tyr283Cys)
c.2123A>G (p.Tyr708Cys)
c.9023A>G (p.Tyr3008Cys)
c.9020A>G (p.Tyr3007Cys)
c.9032A>G (p.Tyr3011Cys)
c.9011A>G (p.Tyr3004Cys)
c.8666A>G (p.Tyr2889Cys)
c.5012A>G (p.Tyr1671Cys)
c.8906A>G (p.Tyr2969Cys)
c.8897A>G (p.Tyr2966Cys)
c.8912A>G (p.Tyr2971Cys)
c.3209A>G (p.Tyr1070Cys)
Xg.31444530T>GCA412655136DMDc.3881A>C (p.Tyr1294Ser)
c.1655A>C (p.Tyr552Ser)
n.2500A>C
n.2527A>C
c.890A>C (p.Tyr297Ser)
c.9035A>C (p.Tyr3012Ser)
c.5003A>C (p.Tyr1668Ser)
n.2696A>C
c.848A>C (p.Tyr283Ser)
c.2123A>C (p.Tyr708Ser)
c.9023A>C (p.Tyr3008Ser)
c.9020A>C (p.Tyr3007Ser)
c.9032A>C (p.Tyr3011Ser)
c.9011A>C (p.Tyr3004Ser)
c.8666A>C (p.Tyr2889Ser)
c.5012A>C (p.Tyr1671Ser)
c.8906A>C (p.Tyr2969Ser)
c.8897A>C (p.Tyr2966Ser)
c.8912A>C (p.Tyr2971Ser)
c.3209A>C (p.Tyr1070Ser)
Xg.31444531A>CCA412655137DMDc.3880T>G (p.Tyr1294Asp)
c.1654T>G (p.Tyr552Asp)
n.2499T>G
n.2526T>G
c.889T>G (p.Tyr297Asp)
c.9034T>G (p.Tyr3012Asp)
c.5002T>G (p.Tyr1668Asp)
n.2695T>G
c.847T>G (p.Tyr283Asp)
c.2122T>G (p.Tyr708Asp)
c.9022T>G (p.Tyr3008Asp)
c.9019T>G (p.Tyr3007Asp)
c.9031T>G (p.Tyr3011Asp)
c.9010T>G (p.Tyr3004Asp)
c.8665T>G (p.Tyr2889Asp)
c.5011T>G (p.Tyr1671Asp)
c.8905T>G (p.Tyr2969Asp)
c.8896T>G (p.Tyr2966Asp)
c.8911T>G (p.Tyr2971Asp)
c.3208T>G (p.Tyr1070Asp)
Xg.31444531A>GCA412655138DMDc.3880T>C (p.Tyr1294His)
c.1654T>C (p.Tyr552His)
n.2499T>C
n.2526T>C
c.889T>C (p.Tyr297His)
c.9034T>C (p.Tyr3012His)
c.5002T>C (p.Tyr1668His)
n.2695T>C
c.847T>C (p.Tyr283His)
c.2122T>C (p.Tyr708His)
c.9022T>C (p.Tyr3008His)
c.9019T>C (p.Tyr3007His)
c.9031T>C (p.Tyr3011His)
c.9010T>C (p.Tyr3004His)
c.8665T>C (p.Tyr2889His)
c.5011T>C (p.Tyr1671His)
c.8905T>C (p.Tyr2969His)
c.8896T>C (p.Tyr2966His)
c.8911T>C (p.Tyr2971His)
c.3208T>C (p.Tyr1070His)
Xg.31444531A>TCA412655139DMDc.3880T>A (p.Tyr1294Asn)
c.1654T>A (p.Tyr552Asn)
n.2499T>A
n.2526T>A
c.889T>A (p.Tyr297Asn)
c.9034T>A (p.Tyr3012Asn)
c.5002T>A (p.Tyr1668Asn)
n.2695T>A
c.847T>A (p.Tyr283Asn)
c.2122T>A (p.Tyr708Asn)
c.9022T>A (p.Tyr3008Asn)
c.9019T>A (p.Tyr3007Asn)
c.9031T>A (p.Tyr3011Asn)
c.9010T>A (p.Tyr3004Asn)
c.8665T>A (p.Tyr2889Asn)
c.5011T>A (p.Tyr1671Asn)
c.8905T>A (p.Tyr2969Asn)
c.8896T>A (p.Tyr2966Asn)
c.8911T>A (p.Tyr2971Asn)
c.3208T>A (p.Tyr1070Asn)
Xg.31444532C>ACA515858224DMDc.3879G>T (p.Pro1293=)
c.1653G>T (p.Pro551=)
n.2498G>T
n.2525G>T
c.888G>T (p.Pro296=)
c.9033G>T (p.Pro3011=)
c.5001G>T (p.Pro1667=)
n.2694G>T
c.846G>T (p.Pro282=)
c.2121G>T (p.Pro707=)
c.9021G>T (p.Pro3007=)
c.9018G>T (p.Pro3006=)
c.9030G>T (p.Pro3010=)
c.9009G>T (p.Pro3003=)
c.8664G>T (p.Pro2888=)
c.5010G>T (p.Pro1670=)
c.8904G>T (p.Pro2968=)
c.8895G>T (p.Pro2965=)
c.8910G>T (p.Pro2970=)
c.3207G>T (p.Pro1069=)
 gnomAD v4
Xg.31444532C=CA2422434047DMDc.3879G= (p.Pro1293=)
c.1653G= (p.Pro551=)
n.2498G=
n.2525G=
c.888G= (p.Pro296=)
c.9033G= (p.Pro3011=)
c.5001G= (p.Pro1667=)
n.2694G=
c.846G= (p.Pro282=)
c.2121G= (p.Pro707=)
c.9021G= (p.Pro3007=)
c.9018G= (p.Pro3006=)
c.9030G= (p.Pro3010=)
c.9009G= (p.Pro3003=)
c.8664G= (p.Pro2888=)
c.5010G= (p.Pro1670=)
c.8904G= (p.Pro2968=)
c.8895G= (p.Pro2965=)
c.8910G= (p.Pro2970=)
c.3207G= (p.Pro1069=)
Xg.31444532C>GCA515858225DMDc.3879G>C (p.Pro1293=)
c.1653G>C (p.Pro551=)
n.2498G>C
n.2525G>C
c.888G>C (p.Pro296=)
c.9033G>C (p.Pro3011=)
c.5001G>C (p.Pro1667=)
n.2694G>C
c.846G>C (p.Pro282=)
c.2121G>C (p.Pro707=)
c.9021G>C (p.Pro3007=)
c.9018G>C (p.Pro3006=)
c.9030G>C (p.Pro3010=)
c.9009G>C (p.Pro3003=)
c.8664G>C (p.Pro2888=)
c.5010G>C (p.Pro1670=)
c.8904G>C (p.Pro2968=)
c.8895G>C (p.Pro2965=)
c.8910G>C (p.Pro2970=)
c.3207G>C (p.Pro1069=)
Xg.31444532C>TCA10377935DMDc.3879G>A (p.Pro1293=)
c.1653G>A (p.Pro551=)
n.2498G>A
n.2525G>A
c.888G>A (p.Pro296=)
c.9033G>A (p.Pro3011=)
c.5001G>A (p.Pro1667=)
n.2694G>A
c.846G>A (p.Pro282=)
c.2121G>A (p.Pro707=)
c.9021G>A (p.Pro3007=)
c.9018G>A (p.Pro3006=)
c.9030G>A (p.Pro3010=)
c.9009G>A (p.Pro3003=)
c.8664G>A (p.Pro2888=)
c.5010G>A (p.Pro1670=)
c.8904G>A (p.Pro2968=)
c.8895G>A (p.Pro2965=)
c.8910G>A (p.Pro2970=)
c.3207G>A (p.Pro1069=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31444533G>ACA246864DMDc.3878C>T (p.Pro1293Leu)
c.1652C>T (p.Pro551Leu)
n.2497C>T
n.2524C>T
c.887C>T (p.Pro296Leu)
c.9032C>T (p.Pro3011Leu)
c.5000C>T (p.Pro1667Leu)
n.2693C>T
c.845C>T (p.Pro282Leu)
c.2120C>T (p.Pro707Leu)
c.9020C>T (p.Pro3007Leu)
c.9017C>T (p.Pro3006Leu)
c.9029C>T (p.Pro3010Leu)
c.9008C>T (p.Pro3003Leu)
c.8663C>T (p.Pro2888Leu)
c.5009C>T (p.Pro1670Leu)
c.8903C>T (p.Pro2968Leu)
c.8894C>T (p.Pro2965Leu)
c.8909C>T (p.Pro2970Leu)
c.3206C>T (p.Pro1069Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31444533G>CCA412655140DMDc.3878C>G (p.Pro1293Arg)
c.1652C>G (p.Pro551Arg)
n.2497C>G
n.2524C>G
c.887C>G (p.Pro296Arg)
c.9032C>G (p.Pro3011Arg)
c.5000C>G (p.Pro1667Arg)
n.2693C>G
c.845C>G (p.Pro282Arg)
c.2120C>G (p.Pro707Arg)
c.9020C>G (p.Pro3007Arg)
c.9017C>G (p.Pro3006Arg)
c.9029C>G (p.Pro3010Arg)
c.9008C>G (p.Pro3003Arg)
c.8663C>G (p.Pro2888Arg)
c.5009C>G (p.Pro1670Arg)
c.8903C>G (p.Pro2968Arg)
c.8894C>G (p.Pro2965Arg)
c.8909C>G (p.Pro2970Arg)
c.3206C>G (p.Pro1069Arg)
 gnomAD v4
Xg.31444533G=CA2422434048DMDc.3878C= (p.Pro1293=)
c.1652C= (p.Pro551=)
n.2497C=
n.2524C=
c.887C= (p.Pro296=)
c.9032C= (p.Pro3011=)
c.5000C= (p.Pro1667=)
n.2693C=
c.845C= (p.Pro282=)
c.2120C= (p.Pro707=)
c.9020C= (p.Pro3007=)
c.9017C= (p.Pro3006=)
c.9029C= (p.Pro3010=)
c.9008C= (p.Pro3003=)
c.8663C= (p.Pro2888=)
c.5009C= (p.Pro1670=)
c.8903C= (p.Pro2968=)
c.8894C= (p.Pro2965=)
c.8909C= (p.Pro2970=)
c.3206C= (p.Pro1069=)
Xg.31444533G>TCA412655141DMDc.3878C>A (p.Pro1293Gln)
c.1652C>A (p.Pro551Gln)
n.2497C>A
n.2524C>A
c.887C>A (p.Pro296Gln)
c.9032C>A (p.Pro3011Gln)
c.5000C>A (p.Pro1667Gln)
n.2693C>A
c.845C>A (p.Pro282Gln)
c.2120C>A (p.Pro707Gln)
c.9020C>A (p.Pro3007Gln)
c.9017C>A (p.Pro3006Gln)
c.9029C>A (p.Pro3010Gln)
c.9008C>A (p.Pro3003Gln)
c.8663C>A (p.Pro2888Gln)
c.5009C>A (p.Pro1670Gln)
c.8903C>A (p.Pro2968Gln)
c.8894C>A (p.Pro2965Gln)
c.8909C>A (p.Pro2970Gln)
c.3206C>A (p.Pro1069Gln)
 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31444534G>ACA328429788DMDc.3877C>T (p.Pro1293Ser)
c.1651C>T (p.Pro551Ser)
n.2496C>T
n.2523C>T
c.886C>T (p.Pro296Ser)
c.9031C>T (p.Pro3011Ser)
c.4999C>T (p.Pro1667Ser)
n.2692C>T
c.844C>T (p.Pro282Ser)
c.2119C>T (p.Pro707Ser)
c.9019C>T (p.Pro3007Ser)
c.9016C>T (p.Pro3006Ser)
c.9028C>T (p.Pro3010Ser)
c.9007C>T (p.Pro3003Ser)
c.8662C>T (p.Pro2888Ser)
c.5008C>T (p.Pro1670Ser)
c.8902C>T (p.Pro2968Ser)
c.8893C>T (p.Pro2965Ser)
c.8908C>T (p.Pro2970Ser)
c.3205C>T (p.Pro1069Ser)
 dbSNP
Xg.31444534G>CCA412655142DMDc.3877C>G (p.Pro1293Ala)
c.1651C>G (p.Pro551Ala)
n.2496C>G
n.2523C>G
c.886C>G (p.Pro296Ala)
c.9031C>G (p.Pro3011Ala)
c.4999C>G (p.Pro1667Ala)
n.2692C>G
c.844C>G (p.Pro282Ala)
c.2119C>G (p.Pro707Ala)
c.9019C>G (p.Pro3007Ala)
c.9016C>G (p.Pro3006Ala)
c.9028C>G (p.Pro3010Ala)
c.9007C>G (p.Pro3003Ala)
c.8662C>G (p.Pro2888Ala)
c.5008C>G (p.Pro1670Ala)
c.8902C>G (p.Pro2968Ala)
c.8893C>G (p.Pro2965Ala)
c.8908C>G (p.Pro2970Ala)
c.3205C>G (p.Pro1069Ala)
Xg.31444534G=CA2422434049DMDc.3877C= (p.Pro1293=)
c.1651C= (p.Pro551=)
n.2496C=
n.2523C=
c.886C= (p.Pro296=)
c.9031C= (p.Pro3011=)
c.4999C= (p.Pro1667=)
n.2692C=
c.844C= (p.Pro282=)
c.2119C= (p.Pro707=)
c.9019C= (p.Pro3007=)
c.9016C= (p.Pro3006=)
c.9028C= (p.Pro3010=)
c.9007C= (p.Pro3003=)
c.8662C= (p.Pro2888=)
c.5008C= (p.Pro1670=)
c.8902C= (p.Pro2968=)
c.8893C= (p.Pro2965=)
c.8908C= (p.Pro2970=)
c.3205C= (p.Pro1069=)
Xg.31444534G>TCA328429789DMDc.3877C>A (p.Pro1293Thr)
c.1651C>A (p.Pro551Thr)
n.2496C>A
n.2523C>A
c.886C>A (p.Pro296Thr)
c.9031C>A (p.Pro3011Thr)
c.4999C>A (p.Pro1667Thr)
n.2692C>A
c.844C>A (p.Pro282Thr)
c.2119C>A (p.Pro707Thr)
c.9019C>A (p.Pro3007Thr)
c.9016C>A (p.Pro3006Thr)
c.9028C>A (p.Pro3010Thr)
c.9007C>A (p.Pro3003Thr)
c.8662C>A (p.Pro2888Thr)
c.5008C>A (p.Pro1670Thr)
c.8902C>A (p.Pro2968Thr)
c.8893C>A (p.Pro2965Thr)
c.8908C>A (p.Pro2970Thr)
c.3205C>A (p.Pro1069Thr)
 dbSNP
Xg.31444535T>ACA515858227DMDc.3876A>T (p.Ser1292=)
c.1650A>T (p.Ser550=)
n.2495A>T
n.2522A>T
c.885A>T (p.Ser295=)
c.9030A>T (p.Ser3010=)
c.4998A>T (p.Ser1666=)
n.2691A>T
c.843A>T (p.Ser281=)
c.2118A>T (p.Ser706=)
c.9018A>T (p.Ser3006=)
c.9015A>T (p.Ser3005=)
c.9027A>T (p.Ser3009=)
c.9006A>T (p.Ser3002=)
c.8661A>T (p.Ser2887=)
c.5007A>T (p.Ser1669=)
c.8901A>T (p.Ser2967=)
c.8892A>T (p.Ser2964=)
c.8907A>T (p.Ser2969=)
c.3204A>T (p.Ser1068=)
 ClinVar
Xg.31444535T>CCA515858228DMDc.3876A>G (p.Ser1292=)
c.1650A>G (p.Ser550=)
n.2495A>G
n.2522A>G
c.885A>G (p.Ser295=)
c.9030A>G (p.Ser3010=)
c.4998A>G (p.Ser1666=)
n.2691A>G
c.843A>G (p.Ser281=)
c.2118A>G (p.Ser706=)
c.9018A>G (p.Ser3006=)
c.9015A>G (p.Ser3005=)
c.9027A>G (p.Ser3009=)
c.9006A>G (p.Ser3002=)
c.8661A>G (p.Ser2887=)
c.5007A>G (p.Ser1669=)
c.8901A>G (p.Ser2967=)
c.8892A>G (p.Ser2964=)
c.8907A>G (p.Ser2969=)
c.3204A>G (p.Ser1068=)
 ClinVar
Xg.31444535T>GCA515858229DMDc.3876A>C (p.Ser1292=)
c.1650A>C (p.Ser550=)
n.2495A>C
n.2522A>C
c.885A>C (p.Ser295=)
c.9030A>C (p.Ser3010=)
c.4998A>C (p.Ser1666=)
n.2691A>C
c.843A>C (p.Ser281=)
c.2118A>C (p.Ser706=)
c.9018A>C (p.Ser3006=)
c.9015A>C (p.Ser3005=)
c.9027A>C (p.Ser3009=)
c.9006A>C (p.Ser3002=)
c.8661A>C (p.Ser2887=)
c.5007A>C (p.Ser1669=)
c.8901A>C (p.Ser2967=)
c.8892A>C (p.Ser2964=)
c.8907A>C (p.Ser2969=)
c.3204A>C (p.Ser1068=)
Xg.31444536G>ACA412655143DMDc.3875C>T (p.Ser1292Leu)
c.1649C>T (p.Ser550Leu)
n.2494C>T
n.2521C>T
c.884C>T (p.Ser295Leu)
c.9029C>T (p.Ser3010Leu)
c.4997C>T (p.Ser1666Leu)
n.2690C>T
c.842C>T (p.Ser281Leu)
c.2117C>T (p.Ser706Leu)
c.9017C>T (p.Ser3006Leu)
c.9014C>T (p.Ser3005Leu)
c.9026C>T (p.Ser3009Leu)
c.9005C>T (p.Ser3002Leu)
c.8660C>T (p.Ser2887Leu)
c.5006C>T (p.Ser1669Leu)
c.8900C>T (p.Ser2967Leu)
c.8891C>T (p.Ser2964Leu)
c.8906C>T (p.Ser2969Leu)
c.3203C>T (p.Ser1068Leu)
 gnomAD v4
Xg.31444536G>CCA412655145DMDc.3875C>G (p.Ser1292Ter)
c.1649C>G (p.Ser550Ter)
n.2494C>G
n.2521C>G
c.884C>G (p.Ser295Ter)
c.9029C>G (p.Ser3010Ter)
c.4997C>G (p.Ser1666Ter)
n.2690C>G
c.842C>G (p.Ser281Ter)
c.2117C>G (p.Ser706Ter)
c.9017C>G (p.Ser3006Ter)
c.9014C>G (p.Ser3005Ter)
c.9026C>G (p.Ser3009Ter)
c.9005C>G (p.Ser3002Ter)
c.8660C>G (p.Ser2887Ter)
c.5006C>G (p.Ser1669Ter)
c.8900C>G (p.Ser2967Ter)
c.8891C>G (p.Ser2964Ter)
c.8906C>G (p.Ser2969Ter)
c.3203C>G (p.Ser1068Ter)
 dbSNP
Xg.31444536G>TCA412655144DMDc.3875C>A (p.Ser1292Ter)
c.1649C>A (p.Ser550Ter)
n.2494C>A
n.2521C>A
c.884C>A (p.Ser295Ter)
c.9029C>A (p.Ser3010Ter)
c.4997C>A (p.Ser1666Ter)
n.2690C>A
c.842C>A (p.Ser281Ter)
c.2117C>A (p.Ser706Ter)
c.9017C>A (p.Ser3006Ter)
c.9014C>A (p.Ser3005Ter)
c.9026C>A (p.Ser3009Ter)
c.9005C>A (p.Ser3002Ter)
c.8660C>A (p.Ser2887Ter)
c.5006C>A (p.Ser1669Ter)
c.8900C>A (p.Ser2967Ter)
c.8891C>A (p.Ser2964Ter)
c.8906C>A (p.Ser2969Ter)
c.3203C>A (p.Ser1068Ter)
Xg.31444537A>CCA412655146DMDc.3874T>G (p.Ser1292Ala)
c.1648T>G (p.Ser550Ala)
n.2493T>G
n.2520T>G
c.883T>G (p.Ser295Ala)
c.9028T>G (p.Ser3010Ala)
c.4996T>G (p.Ser1666Ala)
n.2689T>G
c.841T>G (p.Ser281Ala)
c.2116T>G (p.Ser706Ala)
c.9016T>G (p.Ser3006Ala)
c.9013T>G (p.Ser3005Ala)
c.9025T>G (p.Ser3009Ala)
c.9004T>G (p.Ser3002Ala)
c.8659T>G (p.Ser2887Ala)
c.5005T>G (p.Ser1669Ala)
c.8899T>G (p.Ser2967Ala)
c.8890T>G (p.Ser2964Ala)
c.8905T>G (p.Ser2969Ala)
c.3202T>G (p.Ser1068Ala)
Xg.31444537A>GCA412655148DMDc.3874T>C (p.Ser1292Pro)
c.1648T>C (p.Ser550Pro)
n.2493T>C
n.2520T>C
c.883T>C (p.Ser295Pro)
c.9028T>C (p.Ser3010Pro)
c.4996T>C (p.Ser1666Pro)
n.2689T>C
c.841T>C (p.Ser281Pro)
c.2116T>C (p.Ser706Pro)
c.9016T>C (p.Ser3006Pro)
c.9013T>C (p.Ser3005Pro)
c.9025T>C (p.Ser3009Pro)
c.9004T>C (p.Ser3002Pro)
c.8659T>C (p.Ser2887Pro)
c.5005T>C (p.Ser1669Pro)
c.8899T>C (p.Ser2967Pro)
c.8890T>C (p.Ser2964Pro)
c.8905T>C (p.Ser2969Pro)
c.3202T>C (p.Ser1068Pro)
Xg.31444537A>TCA412655147DMDc.3874T>A (p.Ser1292Thr)
c.1648T>A (p.Ser550Thr)
n.2493T>A
n.2520T>A
c.883T>A (p.Ser295Thr)
c.9028T>A (p.Ser3010Thr)
c.4996T>A (p.Ser1666Thr)
n.2689T>A
c.841T>A (p.Ser281Thr)
c.2116T>A (p.Ser706Thr)
c.9016T>A (p.Ser3006Thr)
c.9013T>A (p.Ser3005Thr)
c.9025T>A (p.Ser3009Thr)
c.9004T>A (p.Ser3002Thr)
c.8659T>A (p.Ser2887Thr)
c.5005T>A (p.Ser1669Thr)
c.8899T>A (p.Ser2967Thr)
c.8890T>A (p.Ser2964Thr)
c.8905T>A (p.Ser2969Thr)
c.3202T>A (p.Ser1068Thr)
Xg.31444538G>ACA515858230DMDc.3873C>T (p.Leu1291=)
c.1647C>T (p.Leu549=)
n.2492C>T
n.2519C>T
c.882C>T (p.Leu294=)
c.9027C>T (p.Leu3009=)
c.4995C>T (p.Leu1665=)
n.2688C>T
c.840C>T (p.Leu280=)
c.2115C>T (p.Leu705=)
c.9015C>T (p.Leu3005=)
c.9012C>T (p.Leu3004=)
c.9024C>T (p.Leu3008=)
c.9003C>T (p.Leu3001=)
c.8658C>T (p.Leu2886=)
c.5004C>T (p.Leu1668=)
c.8898C>T (p.Leu2966=)
c.8889C>T (p.Leu2963=)
c.8904C>T (p.Leu2968=)
c.3201C>T (p.Leu1067=)
Xg.31444538G>CCA515858231DMDc.3873C>G (p.Leu1291=)
c.1647C>G (p.Leu549=)
n.2492C>G
n.2519C>G
c.882C>G (p.Leu294=)
c.9027C>G (p.Leu3009=)
c.4995C>G (p.Leu1665=)
n.2688C>G
c.840C>G (p.Leu280=)
c.2115C>G (p.Leu705=)
c.9015C>G (p.Leu3005=)
c.9012C>G (p.Leu3004=)
c.9024C>G (p.Leu3008=)
c.9003C>G (p.Leu3001=)
c.8658C>G (p.Leu2886=)
c.5004C>G (p.Leu1668=)
c.8898C>G (p.Leu2966=)
c.8889C>G (p.Leu2963=)
c.8904C>G (p.Leu2968=)
c.3201C>G (p.Leu1067=)
Xg.31444538G>TCA515858232DMDc.3873C>A (p.Leu1291=)
c.1647C>A (p.Leu549=)
n.2492C>A
n.2519C>A
c.882C>A (p.Leu294=)
c.9027C>A (p.Leu3009=)
c.4995C>A (p.Leu1665=)
n.2688C>A
c.840C>A (p.Leu280=)
c.2115C>A (p.Leu705=)
c.9015C>A (p.Leu3005=)
c.9012C>A (p.Leu3004=)
c.9024C>A (p.Leu3008=)
c.9003C>A (p.Leu3001=)
c.8658C>A (p.Leu2886=)
c.5004C>A (p.Leu1668=)
c.8898C>A (p.Leu2966=)
c.8889C>A (p.Leu2963=)
c.8904C>A (p.Leu2968=)
c.3201C>A (p.Leu1067=)
Xg.31444539A>CCA412655149DMDc.3872T>G (p.Leu1291Arg)
c.1646T>G (p.Leu549Arg)
n.2491T>G
n.2518T>G
c.881T>G (p.Leu294Arg)
c.9026T>G (p.Leu3009Arg)
c.4994T>G (p.Leu1665Arg)
n.2687T>G
c.839T>G (p.Leu280Arg)
c.2114T>G (p.Leu705Arg)
c.9014T>G (p.Leu3005Arg)
c.9011T>G (p.Leu3004Arg)
c.9023T>G (p.Leu3008Arg)
c.9002T>G (p.Leu3001Arg)
c.8657T>G (p.Leu2886Arg)
c.5003T>G (p.Leu1668Arg)
c.8897T>G (p.Leu2966Arg)
c.8888T>G (p.Leu2963Arg)
c.8903T>G (p.Leu2968Arg)
c.3200T>G (p.Leu1067Arg)
Xg.31444539A>GCA412655150DMDc.3872T>C (p.Leu1291Pro)
c.1646T>C (p.Leu549Pro)
n.2491T>C
n.2518T>C
c.881T>C (p.Leu294Pro)
c.9026T>C (p.Leu3009Pro)
c.4994T>C (p.Leu1665Pro)
n.2687T>C
c.839T>C (p.Leu280Pro)
c.2114T>C (p.Leu705Pro)
c.9014T>C (p.Leu3005Pro)
c.9011T>C (p.Leu3004Pro)
c.9023T>C (p.Leu3008Pro)
c.9002T>C (p.Leu3001Pro)
c.8657T>C (p.Leu2886Pro)
c.5003T>C (p.Leu1668Pro)
c.8897T>C (p.Leu2966Pro)
c.8888T>C (p.Leu2963Pro)
c.8903T>C (p.Leu2968Pro)
c.3200T>C (p.Leu1067Pro)
Xg.31444539A>TCA412655151DMDc.3872T>A (p.Leu1291His)
c.1646T>A (p.Leu549His)
n.2491T>A
n.2518T>A
c.881T>A (p.Leu294His)
c.9026T>A (p.Leu3009His)
c.4994T>A (p.Leu1665His)
n.2687T>A
c.839T>A (p.Leu280His)
c.2114T>A (p.Leu705His)
c.9014T>A (p.Leu3005His)
c.9011T>A (p.Leu3004His)
c.9023T>A (p.Leu3008His)
c.9002T>A (p.Leu3001His)
c.8657T>A (p.Leu2886His)
c.5003T>A (p.Leu1668His)
c.8897T>A (p.Leu2966His)
c.8888T>A (p.Leu2963His)
c.8903T>A (p.Leu2968His)
c.3200T>A (p.Leu1067His)
 gnomAD v4
Xg.31444540G>ACA412655152DMDc.3871C>T (p.Leu1291Phe)
c.1645C>T (p.Leu549Phe)
n.2490C>T
n.2517C>T
c.880C>T (p.Leu294Phe)
c.9025C>T (p.Leu3009Phe)
c.4993C>T (p.Leu1665Phe)
n.2686C>T
c.838C>T (p.Leu280Phe)
c.2113C>T (p.Leu705Phe)
c.9013C>T (p.Leu3005Phe)
c.9010C>T (p.Leu3004Phe)
c.9022C>T (p.Leu3008Phe)
c.9001C>T (p.Leu3001Phe)
c.8656C>T (p.Leu2886Phe)
c.5002C>T (p.Leu1668Phe)
c.8896C>T (p.Leu2966Phe)
c.8887C>T (p.Leu2963Phe)
c.8902C>T (p.Leu2968Phe)
c.3199C>T (p.Leu1067Phe)
Xg.31444540G>CCA412655153DMDc.3871C>G (p.Leu1291Val)
c.1645C>G (p.Leu549Val)
n.2490C>G
n.2517C>G
c.880C>G (p.Leu294Val)
c.9025C>G (p.Leu3009Val)
c.4993C>G (p.Leu1665Val)
n.2686C>G
c.838C>G (p.Leu280Val)
c.2113C>G (p.Leu705Val)
c.9013C>G (p.Leu3005Val)
c.9010C>G (p.Leu3004Val)
c.9022C>G (p.Leu3008Val)
c.9001C>G (p.Leu3001Val)
c.8656C>G (p.Leu2886Val)
c.5002C>G (p.Leu1668Val)
c.8896C>G (p.Leu2966Val)
c.8887C>G (p.Leu2963Val)
c.8902C>G (p.Leu2968Val)
c.3199C>G (p.Leu1067Val)
Xg.31444540G>TCA412655154DMDc.3871C>A (p.Leu1291Ile)
c.1645C>A (p.Leu549Ile)
n.2490C>A
n.2517C>A
c.880C>A (p.Leu294Ile)
c.9025C>A (p.Leu3009Ile)
c.4993C>A (p.Leu1665Ile)
n.2686C>A
c.838C>A (p.Leu280Ile)
c.2113C>A (p.Leu705Ile)
c.9013C>A (p.Leu3005Ile)
c.9010C>A (p.Leu3004Ile)
c.9022C>A (p.Leu3008Ile)
c.9001C>A (p.Leu3001Ile)
c.8656C>A (p.Leu2886Ile)
c.5002C>A (p.Leu1668Ile)
c.8896C>A (p.Leu2966Ile)
c.8887C>A (p.Leu2963Ile)
c.8902C>A (p.Leu2968Ile)
c.3199C>A (p.Leu1067Ile)
 ClinVar dbSNP gnomAD v4
Xg.31444541C>ACA412655155DMDc.3870G>T (p.Gln1290His)
c.1644G>T (p.Gln548His)
n.2489G>T
n.2516G>T
c.879G>T (p.Gln293His)
c.9024G>T (p.Gln3008His)
c.4992G>T (p.Gln1664His)
n.2685G>T
c.837G>T (p.Gln279His)
c.2112G>T (p.Gln704His)
c.9012G>T (p.Gln3004His)
c.9009G>T (p.Gln3003His)
c.9021G>T (p.Gln3007His)
c.9000G>T (p.Gln3000His)
c.8655G>T (p.Gln2885His)
c.5001G>T (p.Gln1667His)
c.8895G>T (p.Gln2965His)
c.8886G>T (p.Gln2962His)
c.8901G>T (p.Gln2967His)
c.3198G>T (p.Gln1066His)
Xg.31444541C>GCA412655156DMDc.3870G>C (p.Gln1290His)
c.1644G>C (p.Gln548His)
n.2489G>C
n.2516G>C
c.879G>C (p.Gln293His)
c.9024G>C (p.Gln3008His)
c.4992G>C (p.Gln1664His)
n.2685G>C
c.837G>C (p.Gln279His)
c.2112G>C (p.Gln704His)
c.9012G>C (p.Gln3004His)
c.9009G>C (p.Gln3003His)
c.9021G>C (p.Gln3007His)
c.9000G>C (p.Gln3000His)
c.8655G>C (p.Gln2885His)
c.5001G>C (p.Gln1667His)
c.8895G>C (p.Gln2965His)
c.8886G>C (p.Gln2962His)
c.8901G>C (p.Gln2967His)
c.3198G>C (p.Gln1066His)
Xg.31444541C>TCA515858235DMDc.3870G>A (p.Gln1290=)
c.1644G>A (p.Gln548=)
n.2489G>A
n.2516G>A
c.879G>A (p.Gln293=)
c.9024G>A (p.Gln3008=)
c.4992G>A (p.Gln1664=)
n.2685G>A
c.837G>A (p.Gln279=)
c.2112G>A (p.Gln704=)
c.9012G>A (p.Gln3004=)
c.9009G>A (p.Gln3003=)
c.9021G>A (p.Gln3007=)
c.9000G>A (p.Gln3000=)
c.8655G>A (p.Gln2885=)
c.5001G>A (p.Gln1667=)
c.8895G>A (p.Gln2965=)
c.8886G>A (p.Gln2962=)
c.8901G>A (p.Gln2967=)
c.3198G>A (p.Gln1066=)
 gnomAD v4
Xg.31444542T>ACA412655157DMDc.3869A>T (p.Gln1290Leu)
c.1643A>T (p.Gln548Leu)
n.2488A>T
n.2515A>T
c.878A>T (p.Gln293Leu)
c.9023A>T (p.Gln3008Leu)
c.4991A>T (p.Gln1664Leu)
n.2684A>T
c.836A>T (p.Gln279Leu)
c.2111A>T (p.Gln704Leu)
c.9011A>T (p.Gln3004Leu)
c.9008A>T (p.Gln3003Leu)
c.9020A>T (p.Gln3007Leu)
c.8999A>T (p.Gln3000Leu)
c.8654A>T (p.Gln2885Leu)
c.5000A>T (p.Gln1667Leu)
c.8894A>T (p.Gln2965Leu)
c.8885A>T (p.Gln2962Leu)
c.8900A>T (p.Gln2967Leu)
c.3197A>T (p.Gln1066Leu)
Xg.31444542T>CCA412655158DMDc.3869A>G (p.Gln1290Arg)
c.1643A>G (p.Gln548Arg)
n.2488A>G
n.2515A>G
c.878A>G (p.Gln293Arg)
c.9023A>G (p.Gln3008Arg)
c.4991A>G (p.Gln1664Arg)
n.2684A>G
c.836A>G (p.Gln279Arg)
c.2111A>G (p.Gln704Arg)
c.9011A>G (p.Gln3004Arg)
c.9008A>G (p.Gln3003Arg)
c.9020A>G (p.Gln3007Arg)
c.8999A>G (p.Gln3000Arg)
c.8654A>G (p.Gln2885Arg)
c.5000A>G (p.Gln1667Arg)
c.8894A>G (p.Gln2965Arg)
c.8885A>G (p.Gln2962Arg)
c.8900A>G (p.Gln2967Arg)
c.3197A>G (p.Gln1066Arg)
 gnomAD v4
Xg.31444542T>GCA412655159DMDc.3869A>C (p.Gln1290Pro)
c.1643A>C (p.Gln548Pro)
n.2488A>C
n.2515A>C
c.878A>C (p.Gln293Pro)
c.9023A>C (p.Gln3008Pro)
c.4991A>C (p.Gln1664Pro)
n.2684A>C
c.836A>C (p.Gln279Pro)
c.2111A>C (p.Gln704Pro)
c.9011A>C (p.Gln3004Pro)
c.9008A>C (p.Gln3003Pro)
c.9020A>C (p.Gln3007Pro)
c.8999A>C (p.Gln3000Pro)
c.8654A>C (p.Gln2885Pro)
c.5000A>C (p.Gln1667Pro)
c.8894A>C (p.Gln2965Pro)
c.8885A>C (p.Gln2962Pro)
c.8900A>C (p.Gln2967Pro)
c.3197A>C (p.Gln1066Pro)
Xg.31444543G>ACA412655162DMDc.3868C>T (p.Gln1290Ter)
c.1642C>T (p.Gln548Ter)
n.2487C>T
n.2514C>T
c.877C>T (p.Gln293Ter)
c.9022C>T (p.Gln3008Ter)
c.4990C>T (p.Gln1664Ter)
n.2683C>T
c.835C>T (p.Gln279Ter)
c.2110C>T (p.Gln704Ter)
c.9010C>T (p.Gln3004Ter)
c.9007C>T (p.Gln3003Ter)
c.9019C>T (p.Gln3007Ter)
c.8998C>T (p.Gln3000Ter)
c.8653C>T (p.Gln2885Ter)
c.4999C>T (p.Gln1667Ter)
c.8893C>T (p.Gln2965Ter)
c.8884C>T (p.Gln2962Ter)
c.8899C>T (p.Gln2967Ter)
c.3196C>T (p.Gln1066Ter)
 ClinVar dbSNP
Xg.31444543G>CCA412655160DMDc.3868C>G (p.Gln1290Glu)
c.1642C>G (p.Gln548Glu)
n.2487C>G
n.2514C>G
c.877C>G (p.Gln293Glu)
c.9022C>G (p.Gln3008Glu)
c.4990C>G (p.Gln1664Glu)
n.2683C>G
c.835C>G (p.Gln279Glu)
c.2110C>G (p.Gln704Glu)
c.9010C>G (p.Gln3004Glu)
c.9007C>G (p.Gln3003Glu)
c.9019C>G (p.Gln3007Glu)
c.8998C>G (p.Gln3000Glu)
c.8653C>G (p.Gln2885Glu)
c.4999C>G (p.Gln1667Glu)
c.8893C>G (p.Gln2965Glu)
c.8884C>G (p.Gln2962Glu)
c.8899C>G (p.Gln2967Glu)
c.3196C>G (p.Gln1066Glu)
Xg.31444543G=CA2422434050DMDc.3868C= (p.Gln1290=)
c.1642C= (p.Gln548=)
n.2487C=
n.2514C=
c.877C= (p.Gln293=)
c.9022C= (p.Gln3008=)
c.4990C= (p.Gln1664=)
n.2683C=
c.835C= (p.Gln279=)
c.2110C= (p.Gln704=)
c.9010C= (p.Gln3004=)
c.9007C= (p.Gln3003=)
c.9019C= (p.Gln3007=)
c.8998C= (p.Gln3000=)
c.8653C= (p.Gln2885=)
c.4999C= (p.Gln1667=)
c.8893C= (p.Gln2965=)
c.8884C= (p.Gln2962=)
c.8899C= (p.Gln2967=)
c.3196C= (p.Gln1066=)
Xg.31444543G>TCA412655161DMDc.3868C>A (p.Gln1290Lys)
c.1642C>A (p.Gln548Lys)
n.2487C>A
n.2514C>A
c.877C>A (p.Gln293Lys)
c.9022C>A (p.Gln3008Lys)
c.4990C>A (p.Gln1664Lys)
n.2683C>A
c.835C>A (p.Gln279Lys)
c.2110C>A (p.Gln704Lys)
c.9010C>A (p.Gln3004Lys)
c.9007C>A (p.Gln3003Lys)
c.9019C>A (p.Gln3007Lys)
c.8998C>A (p.Gln3000Lys)
c.8653C>A (p.Gln2885Lys)
c.4999C>A (p.Gln1667Lys)
c.8893C>A (p.Gln2965Lys)
c.8884C>A (p.Gln2962Lys)
c.8899C>A (p.Gln2967Lys)
c.3196C>A (p.Gln1066Lys)
Xg.31444544A>CCA412655163DMDc.3867T>G (p.Ile1289Met)
c.1641T>G (p.Ile547Met)
n.2486T>G
n.2513T>G
c.876T>G (p.Ile292Met)
c.9021T>G (p.Ile3007Met)
c.4989T>G (p.Ile1663Met)
n.2682T>G
c.834T>G (p.Ile278Met)
c.2109T>G (p.Ile703Met)
c.9009T>G (p.Ile3003Met)
c.9006T>G (p.Ile3002Met)
c.9018T>G (p.Ile3006Met)
c.8997T>G (p.Ile2999Met)
c.8652T>G (p.Ile2884Met)
c.4998T>G (p.Ile1666Met)
c.8892T>G (p.Ile2964Met)
c.8883T>G (p.Ile2961Met)
c.8898T>G (p.Ile2966Met)
c.3195T>G (p.Ile1065Met)
Xg.31444544A>GCA515858237DMDc.3867T>C (p.Ile1289=)
c.1641T>C (p.Ile547=)
n.2486T>C
n.2513T>C
c.876T>C (p.Ile292=)
c.9021T>C (p.Ile3007=)
c.4989T>C (p.Ile1663=)
n.2682T>C
c.834T>C (p.Ile278=)
c.2109T>C (p.Ile703=)
c.9009T>C (p.Ile3003=)
c.9006T>C (p.Ile3002=)
c.9018T>C (p.Ile3006=)
c.8997T>C (p.Ile2999=)
c.8652T>C (p.Ile2884=)
c.4998T>C (p.Ile1666=)
c.8892T>C (p.Ile2964=)
c.8883T>C (p.Ile2961=)
c.8898T>C (p.Ile2966=)
c.3195T>C (p.Ile1065=)
Xg.31444544A>TCA515858238DMDc.3867T>A (p.Ile1289=)
c.1641T>A (p.Ile547=)
n.2486T>A
n.2513T>A
c.876T>A (p.Ile292=)
c.9021T>A (p.Ile3007=)
c.4989T>A (p.Ile1663=)
n.2682T>A
c.834T>A (p.Ile278=)
c.2109T>A (p.Ile703=)
c.9009T>A (p.Ile3003=)
c.9006T>A (p.Ile3002=)
c.9018T>A (p.Ile3006=)
c.8997T>A (p.Ile2999=)
c.8652T>A (p.Ile2884=)
c.4998T>A (p.Ile1666=)
c.8892T>A (p.Ile2964=)
c.8883T>A (p.Ile2961=)
c.8898T>A (p.Ile2966=)
c.3195T>A (p.Ile1065=)
Xg.31444545delCA2573055259DMDc.3867del (p.Gln1290SerfsTer13)
c.1641del (p.Gln548SerfsTer13)
n.2486del
n.2513del
c.876del (p.Gln293SerfsTer13)
c.9021del (p.Gln3008SerfsTer13)
c.4989del (p.Gln1664SerfsTer13)
n.2682del
c.834del (p.Gln279SerfsTer13)
c.2109del (p.Gln704SerfsTer13)
c.9009del (p.Gln3004SerfsTer13)
c.9006del (p.Gln3003SerfsTer13)
c.9018del (p.Gln3007SerfsTer13)
c.8997del (p.Gln3000SerfsTer13)
c.8652del (p.Gln2885SerfsTer13)
c.4998del (p.Gln1667SerfsTer13)
c.8892del (p.Gln2965SerfsTer13)
c.8883del (p.Gln2962SerfsTer13)
c.8898del (p.Gln2967SerfsTer13)
c.3195del (p.Gln1066SerfsTer13)
 dbSNP
Xg.31444545A>CCA412655164DMDc.3866T>G (p.Ile1289Ser)
c.1640T>G (p.Ile547Ser)
n.2485T>G
n.2512T>G
c.875T>G (p.Ile292Ser)
c.9020T>G (p.Ile3007Ser)
c.4988T>G (p.Ile1663Ser)
n.2681T>G
c.833T>G (p.Ile278Ser)
c.2108T>G (p.Ile703Ser)
c.9008T>G (p.Ile3003Ser)
c.9005T>G (p.Ile3002Ser)
c.9017T>G (p.Ile3006Ser)
c.8996T>G (p.Ile2999Ser)
c.8651T>G (p.Ile2884Ser)
c.4997T>G (p.Ile1666Ser)
c.8891T>G (p.Ile2964Ser)
c.8882T>G (p.Ile2961Ser)
c.8897T>G (p.Ile2966Ser)
c.3194T>G (p.Ile1065Ser)
Xg.31444545A>GCA412655165DMDc.3866T>C (p.Ile1289Thr)
c.1640T>C (p.Ile547Thr)
n.2485T>C
n.2512T>C
c.875T>C (p.Ile292Thr)
c.9020T>C (p.Ile3007Thr)
c.4988T>C (p.Ile1663Thr)
n.2681T>C
c.833T>C (p.Ile278Thr)
c.2108T>C (p.Ile703Thr)
c.9008T>C (p.Ile3003Thr)
c.9005T>C (p.Ile3002Thr)
c.9017T>C (p.Ile3006Thr)
c.8996T>C (p.Ile2999Thr)
c.8651T>C (p.Ile2884Thr)
c.4997T>C (p.Ile1666Thr)
c.8891T>C (p.Ile2964Thr)
c.8882T>C (p.Ile2961Thr)
c.8897T>C (p.Ile2966Thr)
c.3194T>C (p.Ile1065Thr)
Xg.31444545A>TCA412655166DMDc.3866T>A (p.Ile1289Asn)
c.1640T>A (p.Ile547Asn)
n.2485T>A
n.2512T>A
c.875T>A (p.Ile292Asn)
c.9020T>A (p.Ile3007Asn)
c.4988T>A (p.Ile1663Asn)
n.2681T>A
c.833T>A (p.Ile278Asn)
c.2108T>A (p.Ile703Asn)
c.9008T>A (p.Ile3003Asn)
c.9005T>A (p.Ile3002Asn)
c.9017T>A (p.Ile3006Asn)
c.8996T>A (p.Ile2999Asn)
c.8651T>A (p.Ile2884Asn)
c.4997T>A (p.Ile1666Asn)
c.8891T>A (p.Ile2964Asn)
c.8882T>A (p.Ile2961Asn)
c.8897T>A (p.Ile2966Asn)
c.3194T>A (p.Ile1065Asn)
Xg.31444546T>ACA412655167DMDc.3865A>T (p.Ile1289Phe)
c.1639A>T (p.Ile547Phe)
n.2484A>T
n.2511A>T
c.874A>T (p.Ile292Phe)
c.9019A>T (p.Ile3007Phe)
c.4987A>T (p.Ile1663Phe)
n.2680A>T
c.832A>T (p.Ile278Phe)
c.2107A>T (p.Ile703Phe)
c.9007A>T (p.Ile3003Phe)
c.9004A>T (p.Ile3002Phe)
c.9016A>T (p.Ile3006Phe)
c.8995A>T (p.Ile2999Phe)
c.8650A>T (p.Ile2884Phe)
c.4996A>T (p.Ile1666Phe)
c.8890A>T (p.Ile2964Phe)
c.8881A>T (p.Ile2961Phe)
c.8896A>T (p.Ile2966Phe)
c.3193A>T (p.Ile1065Phe)
Xg.31444546T>CCA412655168DMDc.3865A>G (p.Ile1289Val)
c.1639A>G (p.Ile547Val)
n.2484A>G
n.2511A>G
c.874A>G (p.Ile292Val)
c.9019A>G (p.Ile3007Val)
c.4987A>G (p.Ile1663Val)
n.2680A>G
c.832A>G (p.Ile278Val)
c.2107A>G (p.Ile703Val)
c.9007A>G (p.Ile3003Val)
c.9004A>G (p.Ile3002Val)
c.9016A>G (p.Ile3006Val)
c.8995A>G (p.Ile2999Val)
c.8650A>G (p.Ile2884Val)
c.4996A>G (p.Ile1666Val)
c.8890A>G (p.Ile2964Val)
c.8881A>G (p.Ile2961Val)
c.8896A>G (p.Ile2966Val)
c.3193A>G (p.Ile1065Val)
Xg.31444546T>GCA412655169DMDc.3865A>C (p.Ile1289Leu)
c.1639A>C (p.Ile547Leu)
n.2484A>C
n.2511A>C
c.874A>C (p.Ile292Leu)
c.9019A>C (p.Ile3007Leu)
c.4987A>C (p.Ile1663Leu)
n.2680A>C
c.832A>C (p.Ile278Leu)
c.2107A>C (p.Ile703Leu)
c.9007A>C (p.Ile3003Leu)
c.9004A>C (p.Ile3002Leu)
c.9016A>C (p.Ile3006Leu)
c.8995A>C (p.Ile2999Leu)
c.8650A>C (p.Ile2884Leu)
c.4996A>C (p.Ile1666Leu)
c.8890A>C (p.Ile2964Leu)
c.8881A>C (p.Ile2961Leu)
c.8896A>C (p.Ile2966Leu)
c.3193A>C (p.Ile1065Leu)
Xg.31444547G>ACA515858239DMDc.3864C>T (p.Gly1288=)
c.1638C>T (p.Gly546=)
n.2483C>T
n.2510C>T
c.873C>T (p.Gly291=)
c.9018C>T (p.Gly3006=)
c.4986C>T (p.Gly1662=)
n.2679C>T
c.831C>T (p.Gly277=)
c.2106C>T (p.Gly702=)
c.9006C>T (p.Gly3002=)
c.9003C>T (p.Gly3001=)
c.9015C>T (p.Gly3005=)
c.8994C>T (p.Gly2998=)
c.8649C>T (p.Gly2883=)
c.4995C>T (p.Gly1665=)
c.8889C>T (p.Gly2963=)
c.8880C>T (p.Gly2960=)
c.8895C>T (p.Gly2965=)
c.3192C>T (p.Gly1064=)
Xg.31444547G>CCA515858240DMDc.3864C>G (p.Gly1288=)
c.1638C>G (p.Gly546=)
n.2483C>G
n.2510C>G
c.873C>G (p.Gly291=)
c.9018C>G (p.Gly3006=)
c.4986C>G (p.Gly1662=)
n.2679C>G
c.831C>G (p.Gly277=)
c.2106C>G (p.Gly702=)
c.9006C>G (p.Gly3002=)
c.9003C>G (p.Gly3001=)
c.9015C>G (p.Gly3005=)
c.8994C>G (p.Gly2998=)
c.8649C>G (p.Gly2883=)
c.4995C>G (p.Gly1665=)
c.8889C>G (p.Gly2963=)
c.8880C>G (p.Gly2960=)
c.8895C>G (p.Gly2965=)
c.3192C>G (p.Gly1064=)
Xg.31444547G>TCA515858241DMDc.3864C>A (p.Gly1288=)
c.1638C>A (p.Gly546=)
n.2483C>A
n.2510C>A
c.873C>A (p.Gly291=)
c.9018C>A (p.Gly3006=)
c.4986C>A (p.Gly1662=)
n.2679C>A
c.831C>A (p.Gly277=)
c.2106C>A (p.Gly702=)
c.9006C>A (p.Gly3002=)
c.9003C>A (p.Gly3001=)
c.9015C>A (p.Gly3005=)
c.8994C>A (p.Gly2998=)
c.8649C>A (p.Gly2883=)
c.4995C>A (p.Gly1665=)
c.8889C>A (p.Gly2963=)
c.8880C>A (p.Gly2960=)
c.8895C>A (p.Gly2965=)
c.3192C>A (p.Gly1064=)
Xg.31444548C>ACA412655170DMDc.3863G>T (p.Gly1288Val)
c.1637G>T (p.Gly546Val)
n.2482G>T
n.2509G>T
c.872G>T (p.Gly291Val)
c.9017G>T (p.Gly3006Val)
c.4985G>T (p.Gly1662Val)
n.2678G>T
c.830G>T (p.Gly277Val)
c.2105G>T (p.Gly702Val)
c.9005G>T (p.Gly3002Val)
c.9002G>T (p.Gly3001Val)
c.9014G>T (p.Gly3005Val)
c.8993G>T (p.Gly2998Val)
c.8648G>T (p.Gly2883Val)
c.4994G>T (p.Gly1665Val)
c.8888G>T (p.Gly2963Val)
c.8879G>T (p.Gly2960Val)
c.8894G>T (p.Gly2965Val)
c.3191G>T (p.Gly1064Val)
Xg.31444548C=CA2422434051DMDc.3863G= (p.Gly1288=)
c.1637G= (p.Gly546=)
n.2482G=
n.2509G=
c.872G= (p.Gly291=)
c.9017G= (p.Gly3006=)
c.4985G= (p.Gly1662=)
n.2678G=
c.830G= (p.Gly277=)
c.2105G= (p.Gly702=)
c.9005G= (p.Gly3002=)
c.9002G= (p.Gly3001=)
c.9014G= (p.Gly3005=)
c.8993G= (p.Gly2998=)
c.8648G= (p.Gly2883=)
c.4994G= (p.Gly1665=)
c.8888G= (p.Gly2963=)
c.8879G= (p.Gly2960=)
c.8894G= (p.Gly2965=)
c.3191G= (p.Gly1064=)
Xg.31444548C>GCA412655171DMDc.3863G>C (p.Gly1288Ala)
c.1637G>C (p.Gly546Ala)
n.2482G>C
n.2509G>C
c.872G>C (p.Gly291Ala)
c.9017G>C (p.Gly3006Ala)
c.4985G>C (p.Gly1662Ala)
n.2678G>C
c.830G>C (p.Gly277Ala)
c.2105G>C (p.Gly702Ala)
c.9005G>C (p.Gly3002Ala)
c.9002G>C (p.Gly3001Ala)
c.9014G>C (p.Gly3005Ala)
c.8993G>C (p.Gly2998Ala)
c.8648G>C (p.Gly2883Ala)
c.4994G>C (p.Gly1665Ala)
c.8888G>C (p.Gly2963Ala)
c.8879G>C (p.Gly2960Ala)
c.8894G>C (p.Gly2965Ala)
c.3191G>C (p.Gly1064Ala)
Xg.31444548C>TCA412655172DMDc.3863G>A (p.Gly1288Asp)
c.1637G>A (p.Gly546Asp)
n.2482G>A
n.2509G>A
c.872G>A (p.Gly291Asp)
c.9017G>A (p.Gly3006Asp)
c.4985G>A (p.Gly1662Asp)
n.2678G>A
c.830G>A (p.Gly277Asp)
c.2105G>A (p.Gly702Asp)
c.9005G>A (p.Gly3002Asp)
c.9002G>A (p.Gly3001Asp)
c.9014G>A (p.Gly3005Asp)
c.8993G>A (p.Gly2998Asp)
c.8648G>A (p.Gly2883Asp)
c.4994G>A (p.Gly1665Asp)
c.8888G>A (p.Gly2963Asp)
c.8879G>A (p.Gly2960Asp)
c.8894G>A (p.Gly2965Asp)
c.3191G>A (p.Gly1064Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.31444549C>ACA412655174DMDc.3862G>T (p.Gly1288Cys)
c.1636G>T (p.Gly546Cys)
n.2481G>T
n.2508G>T
c.871G>T (p.Gly291Cys)
c.9016G>T (p.Gly3006Cys)
c.4984G>T (p.Gly1662Cys)
n.2677G>T
c.829G>T (p.Gly277Cys)
c.2104G>T (p.Gly702Cys)
c.9004G>T (p.Gly3002Cys)
c.9001G>T (p.Gly3001Cys)
c.9013G>T (p.Gly3005Cys)
c.8992G>T (p.Gly2998Cys)
c.8647G>T (p.Gly2883Cys)
c.4993G>T (p.Gly1665Cys)
c.8887G>T (p.Gly2963Cys)
c.8878G>T (p.Gly2960Cys)
c.8893G>T (p.Gly2965Cys)
c.3190G>T (p.Gly1064Cys)
Xg.31444549C>GCA412655175DMDc.3862G>C (p.Gly1288Arg)
c.1636G>C (p.Gly546Arg)
n.2481G>C
n.2508G>C
c.871G>C (p.Gly291Arg)
c.9016G>C (p.Gly3006Arg)
c.4984G>C (p.Gly1662Arg)
n.2677G>C
c.829G>C (p.Gly277Arg)
c.2104G>C (p.Gly702Arg)
c.9004G>C (p.Gly3002Arg)
c.9001G>C (p.Gly3001Arg)
c.9013G>C (p.Gly3005Arg)
c.8992G>C (p.Gly2998Arg)
c.8647G>C (p.Gly2883Arg)
c.4993G>C (p.Gly1665Arg)
c.8887G>C (p.Gly2963Arg)
c.8878G>C (p.Gly2960Arg)
c.8893G>C (p.Gly2965Arg)
c.3190G>C (p.Gly1064Arg)
Xg.31444549C>TCA412655173DMDc.3862G>A (p.Gly1288Ser)
c.1636G>A (p.Gly546Ser)
n.2481G>A
n.2508G>A
c.871G>A (p.Gly291Ser)
c.9016G>A (p.Gly3006Ser)
c.4984G>A (p.Gly1662Ser)
n.2677G>A
c.829G>A (p.Gly277Ser)
c.2104G>A (p.Gly702Ser)
c.9004G>A (p.Gly3002Ser)
c.9001G>A (p.Gly3001Ser)
c.9013G>A (p.Gly3005Ser)
c.8992G>A (p.Gly2998Ser)
c.8647G>A (p.Gly2883Ser)
c.4993G>A (p.Gly1665Ser)
c.8887G>A (p.Gly2963Ser)
c.8878G>A (p.Gly2960Ser)
c.8893G>A (p.Gly2965Ser)
c.3190G>A (p.Gly1064Ser)
Xg.31444550C>ACA412655176DMDc.3861G>T (p.Leu1287Phe)
c.1635G>T (p.Leu545Phe)
n.2480G>T
n.2507G>T
c.870G>T (p.Leu290Phe)
c.9015G>T (p.Leu3005Phe)
c.4983G>T (p.Leu1661Phe)
n.2676G>T
c.828G>T (p.Leu276Phe)
c.2103G>T (p.Leu701Phe)
c.9003G>T (p.Leu3001Phe)
c.9000G>T (p.Leu3000Phe)
c.9012G>T (p.Leu3004Phe)
c.8991G>T (p.Leu2997Phe)
c.8646G>T (p.Leu2882Phe)
c.4992G>T (p.Leu1664Phe)
c.8886G>T (p.Leu2962Phe)
c.8877G>T (p.Leu2959Phe)
c.8892G>T (p.Leu2964Phe)
c.3189G>T (p.Leu1063Phe)
Xg.31444550C=CA2422434052DMDc.3861G= (p.Leu1287=)
c.1635G= (p.Leu545=)
n.2480G=
n.2507G=
c.870G= (p.Leu290=)
c.9015G= (p.Leu3005=)
c.4983G= (p.Leu1661=)
n.2676G=
c.828G= (p.Leu276=)
c.2103G= (p.Leu701=)
c.9003G= (p.Leu3001=)
c.9000G= (p.Leu3000=)
c.9012G= (p.Leu3004=)
c.8991G= (p.Leu2997=)
c.8646G= (p.Leu2882=)
c.4992G= (p.Leu1664=)
c.8886G= (p.Leu2962=)
c.8877G= (p.Leu2959=)
c.8892G= (p.Leu2964=)
c.3189G= (p.Leu1063=)
Xg.31444550C>GCA412655177DMDc.3861G>C (p.Leu1287Phe)
c.1635G>C (p.Leu545Phe)
n.2480G>C
n.2507G>C
c.870G>C (p.Leu290Phe)
c.9015G>C (p.Leu3005Phe)
c.4983G>C (p.Leu1661Phe)
n.2676G>C
c.828G>C (p.Leu276Phe)
c.2103G>C (p.Leu701Phe)
c.9003G>C (p.Leu3001Phe)
c.9000G>C (p.Leu3000Phe)
c.9012G>C (p.Leu3004Phe)
c.8991G>C (p.Leu2997Phe)
c.8646G>C (p.Leu2882Phe)
c.4992G>C (p.Leu1664Phe)
c.8886G>C (p.Leu2962Phe)
c.8877G>C (p.Leu2959Phe)
c.8892G>C (p.Leu2964Phe)
c.3189G>C (p.Leu1063Phe)
Xg.31444550C>TCA10377936DMDc.3861G>A (p.Leu1287=)
c.1635G>A (p.Leu545=)
n.2480G>A
n.2507G>A
c.870G>A (p.Leu290=)
c.9015G>A (p.Leu3005=)
c.4983G>A (p.Leu1661=)
n.2676G>A
c.828G>A (p.Leu276=)
c.2103G>A (p.Leu701=)
c.9003G>A (p.Leu3001=)
c.9000G>A (p.Leu3000=)
c.9012G>A (p.Leu3004=)
c.8991G>A (p.Leu2997=)
c.8646G>A (p.Leu2882=)
c.4992G>A (p.Leu1664=)
c.8886G>A (p.Leu2962=)
c.8877G>A (p.Leu2959=)
c.8892G>A (p.Leu2964=)
c.3189G>A (p.Leu1063=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31444551A=CA2422434053DMDc.3860T= (p.Leu1287=)
c.1634T= (p.Leu545=)
n.2479T=
n.2506T=
c.869T= (p.Leu290=)
c.9014T= (p.Leu3005=)
c.4982T= (p.Leu1661=)
n.2675T=
c.827T= (p.Leu276=)
c.2102T= (p.Leu701=)
c.9002T= (p.Leu3001=)
c.8999T= (p.Leu3000=)
c.9011T= (p.Leu3004=)
c.8990T= (p.Leu2997=)
c.8645T= (p.Leu2882=)
c.4991T= (p.Leu1664=)
c.8885T= (p.Leu2962=)
c.8876T= (p.Leu2959=)
c.8891T= (p.Leu2964=)
c.3188T= (p.Leu1063=)
Xg.31444551A>CCA412655178DMDc.3860T>G (p.Leu1287Trp)
c.1634T>G (p.Leu545Trp)
n.2479T>G
n.2506T>G
c.869T>G (p.Leu290Trp)
c.9014T>G (p.Leu3005Trp)
c.4982T>G (p.Leu1661Trp)
n.2675T>G
c.827T>G (p.Leu276Trp)
c.2102T>G (p.Leu701Trp)
c.9002T>G (p.Leu3001Trp)
c.8999T>G (p.Leu3000Trp)
c.9011T>G (p.Leu3004Trp)
c.8990T>G (p.Leu2997Trp)
c.8645T>G (p.Leu2882Trp)
c.4991T>G (p.Leu1664Trp)
c.8885T>G (p.Leu2962Trp)
c.8876T>G (p.Leu2959Trp)
c.8891T>G (p.Leu2964Trp)
c.3188T>G (p.Leu1063Trp)
Xg.31444551A>GCA412655179DMDc.3860T>C (p.Leu1287Ser)
c.1634T>C (p.Leu545Ser)
n.2479T>C
n.2506T>C
c.869T>C (p.Leu290Ser)
c.9014T>C (p.Leu3005Ser)
c.4982T>C (p.Leu1661Ser)
n.2675T>C
c.827T>C (p.Leu276Ser)
c.2102T>C (p.Leu701Ser)
c.9002T>C (p.Leu3001Ser)
c.8999T>C (p.Leu3000Ser)
c.9011T>C (p.Leu3004Ser)
c.8990T>C (p.Leu2997Ser)
c.8645T>C (p.Leu2882Ser)
c.4991T>C (p.Leu1664Ser)
c.8885T>C (p.Leu2962Ser)
c.8876T>C (p.Leu2959Ser)
c.8891T>C (p.Leu2964Ser)
c.3188T>C (p.Leu1063Ser)
Xg.31444551A>TCA412655180DMDc.3860T>A (p.Leu1287Ter)
c.1634T>A (p.Leu545Ter)
n.2479T>A
n.2506T>A
c.869T>A (p.Leu290Ter)
c.9014T>A (p.Leu3005Ter)
c.4982T>A (p.Leu1661Ter)
n.2675T>A
c.827T>A (p.Leu276Ter)
c.2102T>A (p.Leu701Ter)
c.9002T>A (p.Leu3001Ter)
c.8999T>A (p.Leu3000Ter)
c.9011T>A (p.Leu3004Ter)
c.8990T>A (p.Leu2997Ter)
c.8645T>A (p.Leu2882Ter)
c.4991T>A (p.Leu1664Ter)
c.8885T>A (p.Leu2962Ter)
c.8876T>A (p.Leu2959Ter)
c.8891T>A (p.Leu2964Ter)
c.3188T>A (p.Leu1063Ter)
 ClinVar dbSNP
Xg.31444552A>CCA412655182DMDc.3859T>G (p.Leu1287Val)
c.1633T>G (p.Leu545Val)
n.2478T>G
n.2505T>G
c.868T>G (p.Leu290Val)
c.9013T>G (p.Leu3005Val)
c.4981T>G (p.Leu1661Val)
n.2674T>G
c.826T>G (p.Leu276Val)
c.2101T>G (p.Leu701Val)
c.9001T>G (p.Leu3001Val)
c.8998T>G (p.Leu3000Val)
c.9010T>G (p.Leu3004Val)
c.8989T>G (p.Leu2997Val)
c.8644T>G (p.Leu2882Val)
c.4990T>G (p.Leu1664Val)
c.8884T>G (p.Leu2962Val)
c.8875T>G (p.Leu2959Val)
c.8890T>G (p.Leu2964Val)
c.3187T>G (p.Leu1063Val)
Xg.31444552A>GCA515858243DMDc.3859T>C (p.Leu1287=)
c.1633T>C (p.Leu545=)
n.2478T>C
n.2505T>C
c.868T>C (p.Leu290=)
c.9013T>C (p.Leu3005=)
c.4981T>C (p.Leu1661=)
n.2674T>C
c.826T>C (p.Leu276=)
c.2101T>C (p.Leu701=)
c.9001T>C (p.Leu3001=)
c.8998T>C (p.Leu3000=)
c.9010T>C (p.Leu3004=)
c.8989T>C (p.Leu2997=)
c.8644T>C (p.Leu2882=)
c.4990T>C (p.Leu1664=)
c.8884T>C (p.Leu2962=)
c.8875T>C (p.Leu2959=)
c.8890T>C (p.Leu2964=)
c.3187T>C (p.Leu1063=)
Xg.31444552A>TCA412655181DMDc.3859T>A (p.Leu1287Met)
c.1633T>A (p.Leu545Met)
n.2478T>A
n.2505T>A
c.868T>A (p.Leu290Met)
c.9013T>A (p.Leu3005Met)
c.4981T>A (p.Leu1661Met)
n.2674T>A
c.826T>A (p.Leu276Met)
c.2101T>A (p.Leu701Met)
c.9001T>A (p.Leu3001Met)
c.8998T>A (p.Leu3000Met)
c.9010T>A (p.Leu3004Met)
c.8989T>A (p.Leu2997Met)
c.8644T>A (p.Leu2882Met)
c.4990T>A (p.Leu1664Met)
c.8884T>A (p.Leu2962Met)
c.8875T>A (p.Leu2959Met)
c.8890T>A (p.Leu2964Met)
c.3187T>A (p.Leu1063Met)
Xg.31444553A>CCA515858244DMDc.3858T>G (p.Thr1286=)
c.1632T>G (p.Thr544=)
n.2477T>G
n.2504T>G
c.867T>G (p.Thr289=)
c.9012T>G (p.Thr3004=)
c.4980T>G (p.Thr1660=)
n.2673T>G
c.825T>G (p.Thr275=)
c.2100T>G (p.Thr700=)
c.9000T>G (p.Thr3000=)
c.8997T>G (p.Thr2999=)
c.9009T>G (p.Thr3003=)
c.8988T>G (p.Thr2996=)
c.8643T>G (p.Thr2881=)
c.4989T>G (p.Thr1663=)
c.8883T>G (p.Thr2961=)
c.8874T>G (p.Thr2958=)
c.8889T>G (p.Thr2963=)
c.3186T>G (p.Thr1062=)
Xg.31444553A>GCA515858246DMDc.3858T>C (p.Thr1286=)
c.1632T>C (p.Thr544=)
n.2477T>C
n.2504T>C
c.867T>C (p.Thr289=)
c.9012T>C (p.Thr3004=)
c.4980T>C (p.Thr1660=)
n.2673T>C
c.825T>C (p.Thr275=)
c.2100T>C (p.Thr700=)
c.9000T>C (p.Thr3000=)
c.8997T>C (p.Thr2999=)
c.9009T>C (p.Thr3003=)
c.8988T>C (p.Thr2996=)
c.8643T>C (p.Thr2881=)
c.4989T>C (p.Thr1663=)
c.8883T>C (p.Thr2961=)
c.8874T>C (p.Thr2958=)
c.8889T>C (p.Thr2963=)
c.3186T>C (p.Thr1062=)
Xg.31444553A>TCA515858245DMDc.3858T>A (p.Thr1286=)
c.1632T>A (p.Thr544=)
n.2477T>A
n.2504T>A
c.867T>A (p.Thr289=)
c.9012T>A (p.Thr3004=)
c.4980T>A (p.Thr1660=)
n.2673T>A
c.825T>A (p.Thr275=)
c.2100T>A (p.Thr700=)
c.9000T>A (p.Thr3000=)
c.8997T>A (p.Thr2999=)
c.9009T>A (p.Thr3003=)
c.8988T>A (p.Thr2996=)
c.8643T>A (p.Thr2881=)
c.4989T>A (p.Thr1663=)
c.8883T>A (p.Thr2961=)
c.8874T>A (p.Thr2958=)
c.8889T>A (p.Thr2963=)
c.3186T>A (p.Thr1062=)
Xg.31444554G>ACA412655183DMDc.3857C>T (p.Thr1286Ile)
c.1631C>T (p.Thr544Ile)
n.2476C>T
n.2503C>T
c.866C>T (p.Thr289Ile)
c.9011C>T (p.Thr3004Ile)
c.4979C>T (p.Thr1660Ile)
n.2672C>T
c.824C>T (p.Thr275Ile)
c.2099C>T (p.Thr700Ile)
c.8999C>T (p.Thr3000Ile)
c.8996C>T (p.Thr2999Ile)
c.9008C>T (p.Thr3003Ile)
c.8987C>T (p.Thr2996Ile)
c.8642C>T (p.Thr2881Ile)
c.4988C>T (p.Thr1663Ile)
c.8882C>T (p.Thr2961Ile)
c.8873C>T (p.Thr2958Ile)
c.8888C>T (p.Thr2963Ile)
c.3185C>T (p.Thr1062Ile)
Xg.31444554G>CCA412655184DMDc.3857C>G (p.Thr1286Ser)
c.1631C>G (p.Thr544Ser)
n.2476C>G
n.2503C>G
c.866C>G (p.Thr289Ser)
c.9011C>G (p.Thr3004Ser)
c.4979C>G (p.Thr1660Ser)
n.2672C>G
c.824C>G (p.Thr275Ser)
c.2099C>G (p.Thr700Ser)
c.8999C>G (p.Thr3000Ser)
c.8996C>G (p.Thr2999Ser)
c.9008C>G (p.Thr3003Ser)
c.8987C>G (p.Thr2996Ser)
c.8642C>G (p.Thr2881Ser)
c.4988C>G (p.Thr1663Ser)
c.8882C>G (p.Thr2961Ser)
c.8873C>G (p.Thr2958Ser)
c.8888C>G (p.Thr2963Ser)
c.3185C>G (p.Thr1062Ser)
Xg.31444554G>TCA412655185DMDc.3857C>A (p.Thr1286Asn)
c.1631C>A (p.Thr544Asn)
n.2476C>A
n.2503C>A
c.866C>A (p.Thr289Asn)
c.9011C>A (p.Thr3004Asn)
c.4979C>A (p.Thr1660Asn)
n.2672C>A
c.824C>A (p.Thr275Asn)
c.2099C>A (p.Thr700Asn)
c.8999C>A (p.Thr3000Asn)
c.8996C>A (p.Thr2999Asn)
c.9008C>A (p.Thr3003Asn)
c.8987C>A (p.Thr2996Asn)
c.8642C>A (p.Thr2881Asn)
c.4988C>A (p.Thr1663Asn)
c.8882C>A (p.Thr2961Asn)
c.8873C>A (p.Thr2958Asn)
c.8888C>A (p.Thr2963Asn)
c.3185C>A (p.Thr1062Asn)
Xg.31444555T>ACA10377937DMDc.3856A>T (p.Thr1286Ser)
c.1630A>T (p.Thr544Ser)
n.2475A>T
n.2502A>T
c.865A>T (p.Thr289Ser)
c.9010A>T (p.Thr3004Ser)
c.4978A>T (p.Thr1660Ser)
n.2671A>T
c.823A>T (p.Thr275Ser)
c.2098A>T (p.Thr700Ser)
c.8998A>T (p.Thr3000Ser)
c.8995A>T (p.Thr2999Ser)
c.9007A>T (p.Thr3003Ser)
c.8986A>T (p.Thr2996Ser)
c.8641A>T (p.Thr2881Ser)
c.4987A>T (p.Thr1663Ser)
c.8881A>T (p.Thr2961Ser)
c.8872A>T (p.Thr2958Ser)
c.8887A>T (p.Thr2963Ser)
c.3184A>T (p.Thr1062Ser)
 dbSNP ExAC
Xg.31444555T>CCA412655186DMDc.3856A>G (p.Thr1286Ala)
c.1630A>G (p.Thr544Ala)
n.2475A>G
n.2502A>G
c.865A>G (p.Thr289Ala)
c.9010A>G (p.Thr3004Ala)
c.4978A>G (p.Thr1660Ala)
n.2671A>G
c.823A>G (p.Thr275Ala)
c.2098A>G (p.Thr700Ala)
c.8998A>G (p.Thr3000Ala)
c.8995A>G (p.Thr2999Ala)
c.9007A>G (p.Thr3003Ala)
c.8986A>G (p.Thr2996Ala)
c.8641A>G (p.Thr2881Ala)
c.4987A>G (p.Thr1663Ala)
c.8881A>G (p.Thr2961Ala)
c.8872A>G (p.Thr2958Ala)
c.8887A>G (p.Thr2963Ala)
c.3184A>G (p.Thr1062Ala)
 gnomAD v4
Xg.31444555T>GCA412655187DMDc.3856A>C (p.Thr1286Pro)
c.1630A>C (p.Thr544Pro)
n.2475A>C
n.2502A>C
c.865A>C (p.Thr289Pro)
c.9010A>C (p.Thr3004Pro)
c.4978A>C (p.Thr1660Pro)
n.2671A>C
c.823A>C (p.Thr275Pro)
c.2098A>C (p.Thr700Pro)
c.8998A>C (p.Thr3000Pro)
c.8995A>C (p.Thr2999Pro)
c.9007A>C (p.Thr3003Pro)
c.8986A>C (p.Thr2996Pro)
c.8641A>C (p.Thr2881Pro)
c.4987A>C (p.Thr1663Pro)
c.8881A>C (p.Thr2961Pro)
c.8872A>C (p.Thr2958Pro)
c.8887A>C (p.Thr2963Pro)
c.3184A>C (p.Thr1062Pro)
Xg.31444555T=CA2422434054DMDc.3856A= (p.Thr1286=)
c.1630A= (p.Thr544=)
n.2475A=
n.2502A=
c.865A= (p.Thr289=)
c.9010A= (p.Thr3004=)
c.4978A= (p.Thr1660=)
n.2671A=
c.823A= (p.Thr275=)
c.2098A= (p.Thr700=)
c.8998A= (p.Thr3000=)
c.8995A= (p.Thr2999=)
c.9007A= (p.Thr3003=)
c.8986A= (p.Thr2996=)
c.8641A= (p.Thr2881=)
c.4987A= (p.Thr1663=)
c.8881A= (p.Thr2961=)
c.8872A= (p.Thr2958=)
c.8887A= (p.Thr2963=)
c.3184A= (p.Thr1062=)
Xg.31444556G>ACA515858248DMDc.3855C>T (p.Thr1285=)
c.1629C>T (p.Thr543=)
n.2474C>T
n.2501C>T
c.864C>T (p.Thr288=)
c.9009C>T (p.Thr3003=)
c.4977C>T (p.Thr1659=)
n.2670C>T
c.822C>T (p.Thr274=)
c.2097C>T (p.Thr699=)
c.8997C>T (p.Thr2999=)
c.8994C>T (p.Thr2998=)
c.9006C>T (p.Thr3002=)
c.8985C>T (p.Thr2995=)
c.8640C>T (p.Thr2880=)
c.4986C>T (p.Thr1662=)
c.8880C>T (p.Thr2960=)
c.8871C>T (p.Thr2957=)
c.8886C>T (p.Thr2962=)
c.3183C>T (p.Thr1061=)
 gnomAD v4
Xg.31444556G>CCA515858249DMDc.3855C>G (p.Thr1285=)
c.1629C>G (p.Thr543=)
n.2474C>G
n.2501C>G
c.864C>G (p.Thr288=)
c.9009C>G (p.Thr3003=)
c.4977C>G (p.Thr1659=)
n.2670C>G
c.822C>G (p.Thr274=)
c.2097C>G (p.Thr699=)
c.8997C>G (p.Thr2999=)
c.8994C>G (p.Thr2998=)
c.9006C>G (p.Thr3002=)
c.8985C>G (p.Thr2995=)
c.8640C>G (p.Thr2880=)
c.4986C>G (p.Thr1662=)
c.8880C>G (p.Thr2960=)
c.8871C>G (p.Thr2957=)
c.8886C>G (p.Thr2962=)
c.3183C>G (p.Thr1061=)
Xg.31444556G>TCA515858250DMDc.3855C>A (p.Thr1285=)
c.1629C>A (p.Thr543=)
n.2474C>A
n.2501C>A
c.864C>A (p.Thr288=)
c.9009C>A (p.Thr3003=)
c.4977C>A (p.Thr1659=)
n.2670C>A
c.822C>A (p.Thr274=)
c.2097C>A (p.Thr699=)
c.8997C>A (p.Thr2999=)
c.8994C>A (p.Thr2998=)
c.9006C>A (p.Thr3002=)
c.8985C>A (p.Thr2995=)
c.8640C>A (p.Thr2880=)
c.4986C>A (p.Thr1662=)
c.8880C>A (p.Thr2960=)
c.8871C>A (p.Thr2957=)
c.8886C>A (p.Thr2962=)
c.3183C>A (p.Thr1061=)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31444557delCA2573055260DMDc.3855del (p.Thr1286LeufsTer17)
c.1629del (p.Thr544LeufsTer17)
n.2474del
n.2501del
c.864del (p.Thr289LeufsTer17)
c.9009del (p.Thr3004LeufsTer17)
c.4977del (p.Thr1660LeufsTer17)
n.2670del
c.822del (p.Thr275LeufsTer17)
c.2097del (p.Thr700LeufsTer17)
c.8997del (p.Thr3000LeufsTer17)
c.8994del (p.Thr2999LeufsTer17)
c.9006del (p.Thr3003LeufsTer17)
c.8985del (p.Thr2996LeufsTer17)
c.8640del (p.Thr2881LeufsTer17)
c.4986del (p.Thr1663LeufsTer17)
c.8880del (p.Thr2961LeufsTer17)
c.8871del (p.Thr2958LeufsTer17)
c.8886del (p.Thr2963LeufsTer17)
c.3183del (p.Thr1062LeufsTer17)
 dbSNP
Xg.31444557G>ACA10377938DMDc.3854C>T (p.Thr1285Ile)
c.1628C>T (p.Thr543Ile)
n.2473C>T
n.2500C>T
c.863C>T (p.Thr288Ile)
c.9008C>T (p.Thr3003Ile)
c.4976C>T (p.Thr1659Ile)
n.2669C>T
c.821C>T (p.Thr274Ile)
c.2096C>T (p.Thr699Ile)
c.8996C>T (p.Thr2999Ile)
c.8993C>T (p.Thr2998Ile)
c.9005C>T (p.Thr3002Ile)
c.8984C>T (p.Thr2995Ile)
c.8639C>T (p.Thr2880Ile)
c.4985C>T (p.Thr1662Ile)
c.8879C>T (p.Thr2960Ile)
c.8870C>T (p.Thr2957Ile)
c.8885C>T (p.Thr2962Ile)
c.3182C>T (p.Thr1061Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31444557G>CCA412655189DMDc.3854C>G (p.Thr1285Ser)
c.1628C>G (p.Thr543Ser)
n.2473C>G
n.2500C>G
c.863C>G (p.Thr288Ser)
c.9008C>G (p.Thr3003Ser)
c.4976C>G (p.Thr1659Ser)
n.2669C>G
c.821C>G (p.Thr274Ser)
c.2096C>G (p.Thr699Ser)
c.8996C>G (p.Thr2999Ser)
c.8993C>G (p.Thr2998Ser)
c.9005C>G (p.Thr3002Ser)
c.8984C>G (p.Thr2995Ser)
c.8639C>G (p.Thr2880Ser)
c.4985C>G (p.Thr1662Ser)
c.8879C>G (p.Thr2960Ser)
c.8870C>G (p.Thr2957Ser)
c.8885C>G (p.Thr2962Ser)
c.3182C>G (p.Thr1061Ser)
Xg.31444557G=CA2422434055DMDc.3854C= (p.Thr1285=)
c.1628C= (p.Thr543=)
n.2473C=
n.2500C=
c.863C= (p.Thr288=)
c.9008C= (p.Thr3003=)
c.4976C= (p.Thr1659=)
n.2669C=
c.821C= (p.Thr274=)
c.2096C= (p.Thr699=)
c.8996C= (p.Thr2999=)
c.8993C= (p.Thr2998=)
c.9005C= (p.Thr3002=)
c.8984C= (p.Thr2995=)
c.8639C= (p.Thr2880=)
c.4985C= (p.Thr1662=)
c.8879C= (p.Thr2960=)
c.8870C= (p.Thr2957=)
c.8885C= (p.Thr2962=)
c.3182C= (p.Thr1061=)
Xg.31444557G>TCA412655188DMDc.3854C>A (p.Thr1285Asn)
c.1628C>A (p.Thr543Asn)
n.2473C>A
n.2500C>A
c.863C>A (p.Thr288Asn)
c.9008C>A (p.Thr3003Asn)
c.4976C>A (p.Thr1659Asn)
n.2669C>A
c.821C>A (p.Thr274Asn)
c.2096C>A (p.Thr699Asn)
c.8996C>A (p.Thr2999Asn)
c.8993C>A (p.Thr2998Asn)
c.9005C>A (p.Thr3002Asn)
c.8984C>A (p.Thr2995Asn)
c.8639C>A (p.Thr2880Asn)
c.4985C>A (p.Thr1662Asn)
c.8879C>A (p.Thr2960Asn)
c.8870C>A (p.Thr2957Asn)
c.8885C>A (p.Thr2962Asn)
c.3182C>A (p.Thr1061Asn)
 ClinVar dbSNP
Xg.31444558T>ACA412655190DMDc.3853A>T (p.Thr1285Ser)
c.1627A>T (p.Thr543Ser)
n.2472A>T
n.2499A>T
c.862A>T (p.Thr288Ser)
c.9007A>T (p.Thr3003Ser)
c.4975A>T (p.Thr1659Ser)
n.2668A>T
c.820A>T (p.Thr274Ser)
c.2095A>T (p.Thr699Ser)
c.8995A>T (p.Thr2999Ser)
c.8992A>T (p.Thr2998Ser)
c.9004A>T (p.Thr3002Ser)
c.8983A>T (p.Thr2995Ser)
c.8638A>T (p.Thr2880Ser)
c.4984A>T (p.Thr1662Ser)
c.8878A>T (p.Thr2960Ser)
c.8869A>T (p.Thr2957Ser)
c.8884A>T (p.Thr2962Ser)
c.3181A>T (p.Thr1061Ser)
Xg.31444558T>CCA412655191DMDc.3853A>G (p.Thr1285Ala)
c.1627A>G (p.Thr543Ala)
n.2472A>G
n.2499A>G
c.862A>G (p.Thr288Ala)
c.9007A>G (p.Thr3003Ala)
c.4975A>G (p.Thr1659Ala)
n.2668A>G
c.820A>G (p.Thr274Ala)
c.2095A>G (p.Thr699Ala)
c.8995A>G (p.Thr2999Ala)
c.8992A>G (p.Thr2998Ala)
c.9004A>G (p.Thr3002Ala)
c.8983A>G (p.Thr2995Ala)
c.8638A>G (p.Thr2880Ala)
c.4984A>G (p.Thr1662Ala)
c.8878A>G (p.Thr2960Ala)
c.8869A>G (p.Thr2957Ala)
c.8884A>G (p.Thr2962Ala)
c.3181A>G (p.Thr1061Ala)
Xg.31444558T>GCA412655192DMDc.3853A>C (p.Thr1285Pro)
c.1627A>C (p.Thr543Pro)
n.2472A>C
n.2499A>C
c.862A>C (p.Thr288Pro)
c.9007A>C (p.Thr3003Pro)
c.4975A>C (p.Thr1659Pro)
n.2668A>C
c.820A>C (p.Thr274Pro)
c.2095A>C (p.Thr699Pro)
c.8995A>C (p.Thr2999Pro)
c.8992A>C (p.Thr2998Pro)
c.9004A>C (p.Thr3002Pro)
c.8983A>C (p.Thr2995Pro)
c.8638A>C (p.Thr2880Pro)
c.4984A>C (p.Thr1662Pro)
c.8878A>C (p.Thr2960Pro)
c.8869A>C (p.Thr2957Pro)
c.8884A>C (p.Thr2962Pro)
c.3181A>C (p.Thr1061Pro)
Xg.31444559A>CCA515858251DMDc.3852T>G (p.Leu1284=)
c.1626T>G (p.Leu542=)
n.2471T>G
n.2498T>G
c.861T>G (p.Leu287=)
c.9006T>G (p.Leu3002=)
c.4974T>G (p.Leu1658=)
n.2667T>G
c.819T>G (p.Leu273=)
c.2094T>G (p.Leu698=)
c.8994T>G (p.Leu2998=)
c.8991T>G (p.Leu2997=)
c.9003T>G (p.Leu3001=)
c.8982T>G (p.Leu2994=)
c.8637T>G (p.Leu2879=)
c.4983T>G (p.Leu1661=)
c.8877T>G (p.Leu2959=)
c.8868T>G (p.Leu2956=)
c.8883T>G (p.Leu2961=)
c.3180T>G (p.Leu1060=)
Xg.31444559A>GCA515858252DMDc.3852T>C (p.Leu1284=)
c.1626T>C (p.Leu542=)
n.2471T>C
n.2498T>C
c.861T>C (p.Leu287=)
c.9006T>C (p.Leu3002=)
c.4974T>C (p.Leu1658=)
n.2667T>C
c.819T>C (p.Leu273=)
c.2094T>C (p.Leu698=)
c.8994T>C (p.Leu2998=)
c.8991T>C (p.Leu2997=)
c.9003T>C (p.Leu3001=)
c.8982T>C (p.Leu2994=)
c.8637T>C (p.Leu2879=)
c.4983T>C (p.Leu1661=)
c.8877T>C (p.Leu2959=)
c.8868T>C (p.Leu2956=)
c.8883T>C (p.Leu2961=)
c.3180T>C (p.Leu1060=)
Xg.31444559A>TCA515858253DMDc.3852T>A (p.Leu1284=)
c.1626T>A (p.Leu542=)
n.2471T>A
n.2498T>A
c.861T>A (p.Leu287=)
c.9006T>A (p.Leu3002=)
c.4974T>A (p.Leu1658=)
n.2667T>A
c.819T>A (p.Leu273=)
c.2094T>A (p.Leu698=)
c.8994T>A (p.Leu2998=)
c.8991T>A (p.Leu2997=)
c.9003T>A (p.Leu3001=)
c.8982T>A (p.Leu2994=)
c.8637T>A (p.Leu2879=)
c.4983T>A (p.Leu1661=)
c.8877T>A (p.Leu2959=)
c.8868T>A (p.Leu2956=)
c.8883T>A (p.Leu2961=)
c.3180T>A (p.Leu1060=)
Xg.31444560A>CCA412655193DMDc.3851T>G (p.Leu1284Arg)
c.1625T>G (p.Leu542Arg)
n.2470T>G
n.2497T>G
c.860T>G (p.Leu287Arg)
c.9005T>G (p.Leu3002Arg)
c.4973T>G (p.Leu1658Arg)
n.2666T>G
c.818T>G (p.Leu273Arg)
c.2093T>G (p.Leu698Arg)
c.8993T>G (p.Leu2998Arg)
c.8990T>G (p.Leu2997Arg)
c.9002T>G (p.Leu3001Arg)
c.8981T>G (p.Leu2994Arg)
c.8636T>G (p.Leu2879Arg)
c.4982T>G (p.Leu1661Arg)
c.8876T>G (p.Leu2959Arg)
c.8867T>G (p.Leu2956Arg)
c.8882T>G (p.Leu2961Arg)
c.3179T>G (p.Leu1060Arg)
Xg.31444560A>GCA412655194DMDc.3851T>C (p.Leu1284Pro)
c.1625T>C (p.Leu542Pro)
n.2470T>C
n.2497T>C
c.860T>C (p.Leu287Pro)
c.9005T>C (p.Leu3002Pro)
c.4973T>C (p.Leu1658Pro)
n.2666T>C
c.818T>C (p.Leu273Pro)
c.2093T>C (p.Leu698Pro)
c.8993T>C (p.Leu2998Pro)
c.8990T>C (p.Leu2997Pro)
c.9002T>C (p.Leu3001Pro)
c.8981T>C (p.Leu2994Pro)
c.8636T>C (p.Leu2879Pro)
c.4982T>C (p.Leu1661Pro)
c.8876T>C (p.Leu2959Pro)
c.8867T>C (p.Leu2956Pro)
c.8882T>C (p.Leu2961Pro)
c.3179T>C (p.Leu1060Pro)
Xg.31444560A>TCA412655195DMDc.3851T>A (p.Leu1284His)
c.1625T>A (p.Leu542His)
n.2470T>A
n.2497T>A
c.860T>A (p.Leu287His)
c.9005T>A (p.Leu3002His)
c.4973T>A (p.Leu1658His)
n.2666T>A
c.818T>A (p.Leu273His)
c.2093T>A (p.Leu698His)
c.8993T>A (p.Leu2998His)
c.8990T>A (p.Leu2997His)
c.9002T>A (p.Leu3001His)
c.8981T>A (p.Leu2994His)
c.8636T>A (p.Leu2879His)
c.4982T>A (p.Leu1661His)
c.8876T>A (p.Leu2959His)
c.8867T>A (p.Leu2956His)
c.8882T>A (p.Leu2961His)
c.3179T>A (p.Leu1060His)
Xg.31444561G>ACA412655196DMDc.3850C>T (p.Leu1284Phe)
c.1624C>T (p.Leu542Phe)
n.2469C>T
n.2496C>T
c.859C>T (p.Leu287Phe)
c.9004C>T (p.Leu3002Phe)
c.4972C>T (p.Leu1658Phe)
n.2665C>T
c.817C>T (p.Leu273Phe)
c.2092C>T (p.Leu698Phe)
c.8992C>T (p.Leu2998Phe)
c.8989C>T (p.Leu2997Phe)
c.9001C>T (p.Leu3001Phe)
c.8980C>T (p.Leu2994Phe)
c.8635C>T (p.Leu2879Phe)
c.4981C>T (p.Leu1661Phe)
c.8875C>T (p.Leu2959Phe)
c.8866C>T (p.Leu2956Phe)
c.8881C>T (p.Leu2961Phe)
c.3178C>T (p.Leu1060Phe)
Xg.31444561G>CCA412655197DMDc.3850C>G (p.Leu1284Val)
c.1624C>G (p.Leu542Val)
n.2469C>G
n.2496C>G
c.859C>G (p.Leu287Val)
c.9004C>G (p.Leu3002Val)
c.4972C>G (p.Leu1658Val)
n.2665C>G
c.817C>G (p.Leu273Val)
c.2092C>G (p.Leu698Val)
c.8992C>G (p.Leu2998Val)
c.8989C>G (p.Leu2997Val)
c.9001C>G (p.Leu3001Val)
c.8980C>G (p.Leu2994Val)
c.8635C>G (p.Leu2879Val)
c.4981C>G (p.Leu1661Val)
c.8875C>G (p.Leu2959Val)
c.8866C>G (p.Leu2956Val)
c.8881C>G (p.Leu2961Val)
c.3178C>G (p.Leu1060Val)
Xg.31444561G>TCA412655198DMDc.3850C>A (p.Leu1284Ile)
c.1624C>A (p.Leu542Ile)
n.2469C>A
n.2496C>A
c.859C>A (p.Leu287Ile)
c.9004C>A (p.Leu3002Ile)
c.4972C>A (p.Leu1658Ile)
n.2665C>A
c.817C>A (p.Leu273Ile)
c.2092C>A (p.Leu698Ile)
c.8992C>A (p.Leu2998Ile)
c.8989C>A (p.Leu2997Ile)
c.9001C>A (p.Leu3001Ile)
c.8980C>A (p.Leu2994Ile)
c.8635C>A (p.Leu2879Ile)
c.4981C>A (p.Leu1661Ile)
c.8875C>A (p.Leu2959Ile)
c.8866C>A (p.Leu2956Ile)
c.8881C>A (p.Leu2961Ile)
c.3178C>A (p.Leu1060Ile)
Xg.31444562C>ACA412655199DMDc.3849G>T (p.Gln1283His)
c.1623G>T (p.Gln541His)
n.2468G>T
n.2495G>T
c.858G>T (p.Gln286His)
c.9003G>T (p.Gln3001His)
c.4971G>T (p.Gln1657His)
n.2664G>T
c.816G>T (p.Gln272His)
c.2091G>T (p.Gln697His)
c.8991G>T (p.Gln2997His)
c.8988G>T (p.Gln2996His)
c.9000G>T (p.Gln3000His)
c.8979G>T (p.Gln2993His)
c.8634G>T (p.Gln2878His)
c.4980G>T (p.Gln1660His)
c.8874G>T (p.Gln2958His)
c.8865G>T (p.Gln2955His)
c.8880G>T (p.Gln2960His)
c.3177G>T (p.Gln1059His)
Xg.31444562C>GCA412655200DMDc.3849G>C (p.Gln1283His)
c.1623G>C (p.Gln541His)
n.2468G>C
n.2495G>C
c.858G>C (p.Gln286His)
c.9003G>C (p.Gln3001His)
c.4971G>C (p.Gln1657His)
n.2664G>C
c.816G>C (p.Gln272His)
c.2091G>C (p.Gln697His)
c.8991G>C (p.Gln2997His)
c.8988G>C (p.Gln2996His)
c.9000G>C (p.Gln3000His)
c.8979G>C (p.Gln2993His)
c.8634G>C (p.Gln2878His)
c.4980G>C (p.Gln1660His)
c.8874G>C (p.Gln2958His)
c.8865G>C (p.Gln2955His)
c.8880G>C (p.Gln2960His)
c.3177G>C (p.Gln1059His)
 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31444562C>TCA515858257DMDc.3849G>A (p.Gln1283=)
c.1623G>A (p.Gln541=)
n.2468G>A
n.2495G>A
c.858G>A (p.Gln286=)
c.9003G>A (p.Gln3001=)
c.4971G>A (p.Gln1657=)
n.2664G>A
c.816G>A (p.Gln272=)
c.2091G>A (p.Gln697=)
c.8991G>A (p.Gln2997=)
c.8988G>A (p.Gln2996=)
c.9000G>A (p.Gln3000=)
c.8979G>A (p.Gln2993=)
c.8634G>A (p.Gln2878=)
c.4980G>A (p.Gln1660=)
c.8874G>A (p.Gln2958=)
c.8865G>A (p.Gln2955=)
c.8880G>A (p.Gln2960=)
c.3177G>A (p.Gln1059=)
Xg.31444563T>ACA412655203DMDc.3848A>T (p.Gln1283Leu)
c.1622A>T (p.Gln541Leu)
n.2467A>T
n.2494A>T
c.857A>T (p.Gln286Leu)
c.9002A>T (p.Gln3001Leu)
c.4970A>T (p.Gln1657Leu)
n.2663A>T
c.815A>T (p.Gln272Leu)
c.2090A>T (p.Gln697Leu)
c.8990A>T (p.Gln2997Leu)
c.8987A>T (p.Gln2996Leu)
c.8999A>T (p.Gln3000Leu)
c.8978A>T (p.Gln2993Leu)
c.8633A>T (p.Gln2878Leu)
c.4979A>T (p.Gln1660Leu)
c.8873A>T (p.Gln2958Leu)
c.8864A>T (p.Gln2955Leu)
c.8879A>T (p.Gln2960Leu)
c.3176A>T (p.Gln1059Leu)
Xg.31444563T>CCA412655202DMDc.3848A>G (p.Gln1283Arg)
c.1622A>G (p.Gln541Arg)
n.2467A>G
n.2494A>G
c.857A>G (p.Gln286Arg)
c.9002A>G (p.Gln3001Arg)
c.4970A>G (p.Gln1657Arg)
n.2663A>G
c.815A>G (p.Gln272Arg)
c.2090A>G (p.Gln697Arg)
c.8990A>G (p.Gln2997Arg)
c.8987A>G (p.Gln2996Arg)
c.8999A>G (p.Gln3000Arg)
c.8978A>G (p.Gln2993Arg)
c.8633A>G (p.Gln2878Arg)
c.4979A>G (p.Gln1660Arg)
c.8873A>G (p.Gln2958Arg)
c.8864A>G (p.Gln2955Arg)
c.8879A>G (p.Gln2960Arg)
c.3176A>G (p.Gln1059Arg)
Xg.31444563T>GCA412655201DMDc.3848A>C (p.Gln1283Pro)
c.1622A>C (p.Gln541Pro)
n.2467A>C
n.2494A>C
c.857A>C (p.Gln286Pro)
c.9002A>C (p.Gln3001Pro)
c.4970A>C (p.Gln1657Pro)
n.2663A>C
c.815A>C (p.Gln272Pro)
c.2090A>C (p.Gln697Pro)
c.8990A>C (p.Gln2997Pro)
c.8987A>C (p.Gln2996Pro)
c.8999A>C (p.Gln3000Pro)
c.8978A>C (p.Gln2993Pro)
c.8633A>C (p.Gln2878Pro)
c.4979A>C (p.Gln1660Pro)
c.8873A>C (p.Gln2958Pro)
c.8864A>C (p.Gln2955Pro)
c.8879A>C (p.Gln2960Pro)
c.3176A>C (p.Gln1059Pro)
 ClinVar gnomAD v4
Xg.31444564G>ACA412655204DMDc.3847C>T (p.Gln1283Ter)
c.1621C>T (p.Gln541Ter)
n.2466C>T
n.2493C>T
c.856C>T (p.Gln286Ter)
c.9001C>T (p.Gln3001Ter)
c.4969C>T (p.Gln1657Ter)
n.2662C>T
c.814C>T (p.Gln272Ter)
c.2089C>T (p.Gln697Ter)
c.8989C>T (p.Gln2997Ter)
c.8986C>T (p.Gln2996Ter)
c.8998C>T (p.Gln3000Ter)
c.8977C>T (p.Gln2993Ter)
c.8632C>T (p.Gln2878Ter)
c.4978C>T (p.Gln1660Ter)
c.8872C>T (p.Gln2958Ter)
c.8863C>T (p.Gln2955Ter)
c.8878C>T (p.Gln2960Ter)
c.3175C>T (p.Gln1059Ter)
 dbSNP
Xg.31444564G>CCA412655206DMDc.3847C>G (p.Gln1283Glu)
c.1621C>G (p.Gln541Glu)
n.2466C>G
n.2493C>G
c.856C>G (p.Gln286Glu)
c.9001C>G (p.Gln3001Glu)
c.4969C>G (p.Gln1657Glu)
n.2662C>G
c.814C>G (p.Gln272Glu)
c.2089C>G (p.Gln697Glu)
c.8989C>G (p.Gln2997Glu)
c.8986C>G (p.Gln2996Glu)
c.8998C>G (p.Gln3000Glu)
c.8977C>G (p.Gln2993Glu)
c.8632C>G (p.Gln2878Glu)
c.4978C>G (p.Gln1660Glu)
c.8872C>G (p.Gln2958Glu)
c.8863C>G (p.Gln2955Glu)
c.8878C>G (p.Gln2960Glu)
c.3175C>G (p.Gln1059Glu)
Xg.31444564G>TCA412655205DMDc.3847C>A (p.Gln1283Lys)
c.1621C>A (p.Gln541Lys)
n.2466C>A
n.2493C>A
c.856C>A (p.Gln286Lys)
c.9001C>A (p.Gln3001Lys)
c.4969C>A (p.Gln1657Lys)
n.2662C>A
c.814C>A (p.Gln272Lys)
c.2089C>A (p.Gln697Lys)
c.8989C>A (p.Gln2997Lys)
c.8986C>A (p.Gln2996Lys)
c.8998C>A (p.Gln3000Lys)
c.8977C>A (p.Gln2993Lys)
c.8632C>A (p.Gln2878Lys)
c.4978C>A (p.Gln1660Lys)
c.8872C>A (p.Gln2958Lys)
c.8863C>A (p.Gln2955Lys)
c.8878C>A (p.Gln2960Lys)
c.3175C>A (p.Gln1059Lys)
 ClinVar
Xg.31444564_31444565insCAGTTTCCTCAGAGGCATACCTTCTGCATCCTGTTGGAAAGGAGAAAATTGGAAAGGAGAGAAAATCA2693362098DMDc.3846_3847insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg1282_Gln1283insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.1620_1621insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg540_Gln541insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
n.2465_2466insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG
n.2492_2493insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG
c.855_856insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg285_Gln286insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.9000_9001insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg3000_Gln3001insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.4968_4969insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg1656_Gln1657insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
n.2661_2662insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG
c.813_814insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg271_Gln272insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.2088_2089insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg696_Gln697insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.8988_8989insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg2996_Gln2997insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.8985_8986insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg2995_Gln2996insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.8997_8998insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg2999_Gln3000insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.8976_8977insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg2992_Gln2993insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.8631_8632insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg2877_Gln2878insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.4977_4978insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg1659_Gln1660insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.8871_8872insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg2957_Gln2958insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.8862_8863insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg2954_Gln2955insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.8877_8878insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg2959_Gln2960insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.3174_3175insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg1058_Gln1059insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
 gnomAD v4
Xg.31444565G>ACA515858259DMDc.3846C>T (p.Arg1282=)
c.1620C>T (p.Arg540=)
n.2465C>T
n.2492C>T
c.855C>T (p.Arg285=)
c.9000C>T (p.Arg3000=)
c.4968C>T (p.Arg1656=)
n.2661C>T
c.813C>T (p.Arg271=)
c.2088C>T (p.Arg696=)
c.8988C>T (p.Arg2996=)
c.8985C>T (p.Arg2995=)
c.8997C>T (p.Arg2999=)
c.8976C>T (p.Arg2992=)
c.8631C>T (p.Arg2877=)
c.4977C>T (p.Arg1659=)
c.8871C>T (p.Arg2957=)
c.8862C>T (p.Arg2954=)
c.8877C>T (p.Arg2959=)
c.3174C>T (p.Arg1058=)
Xg.31444565G>CCA515858260DMDc.3846C>G (p.Arg1282=)
c.1620C>G (p.Arg540=)
n.2465C>G
n.2492C>G
c.855C>G (p.Arg285=)
c.9000C>G (p.Arg3000=)
c.4968C>G (p.Arg1656=)
n.2661C>G
c.813C>G (p.Arg271=)
c.2088C>G (p.Arg696=)
c.8988C>G (p.Arg2996=)
c.8985C>G (p.Arg2995=)
c.8997C>G (p.Arg2999=)
c.8976C>G (p.Arg2992=)
c.8631C>G (p.Arg2877=)
c.4977C>G (p.Arg1659=)
c.8871C>G (p.Arg2957=)
c.8862C>G (p.Arg2954=)
c.8877C>G (p.Arg2959=)
c.3174C>G (p.Arg1058=)
Xg.31444565G>TCA515858261DMDc.3846C>A (p.Arg1282=)
c.1620C>A (p.Arg540=)
n.2465C>A
n.2492C>A
c.855C>A (p.Arg285=)
c.9000C>A (p.Arg3000=)
c.4968C>A (p.Arg1656=)
n.2661C>A
c.813C>A (p.Arg271=)
c.2088C>A (p.Arg696=)
c.8988C>A (p.Arg2996=)
c.8985C>A (p.Arg2995=)
c.8997C>A (p.Arg2999=)
c.8976C>A (p.Arg2992=)
c.8631C>A (p.Arg2877=)
c.4977C>A (p.Arg1659=)
c.8871C>A (p.Arg2957=)
c.8862C>A (p.Arg2954=)
c.8877C>A (p.Arg2959=)
c.3174C>A (p.Arg1058=)
Xg.31444566C>ACA412655207DMDc.3845G>T (p.Arg1282Leu)
c.1619G>T (p.Arg540Leu)
n.2464G>T
n.2491G>T
c.854G>T (p.Arg285Leu)
c.8999G>T (p.Arg3000Leu)
c.4967G>T (p.Arg1656Leu)
n.2660G>T
c.812G>T (p.Arg271Leu)
c.2087G>T (p.Arg696Leu)
c.8987G>T (p.Arg2996Leu)
c.8984G>T (p.Arg2995Leu)
c.8996G>T (p.Arg2999Leu)
c.8975G>T (p.Arg2992Leu)
c.8630G>T (p.Arg2877Leu)
c.4976G>T (p.Arg1659Leu)
c.8870G>T (p.Arg2957Leu)
c.8861G>T (p.Arg2954Leu)
c.8876G>T (p.Arg2959Leu)
c.3173G>T (p.Arg1058Leu)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31444566C=CA2422434056DMDc.3845G= (p.Arg1282=)
c.1619G= (p.Arg540=)
n.2464G=
n.2491G=
c.854G= (p.Arg285=)
c.8999G= (p.Arg3000=)
c.4967G= (p.Arg1656=)
n.2660G=
c.812G= (p.Arg271=)
c.2087G= (p.Arg696=)
c.8987G= (p.Arg2996=)
c.8984G= (p.Arg2995=)
c.8996G= (p.Arg2999=)
c.8975G= (p.Arg2992=)
c.8630G= (p.Arg2877=)
c.4976G= (p.Arg1659=)
c.8870G= (p.Arg2957=)
c.8861G= (p.Arg2954=)
c.8876G= (p.Arg2959=)
c.3173G= (p.Arg1058=)
Xg.31444566C>GCA412655208DMDc.3845G>C (p.Arg1282Pro)
c.1619G>C (p.Arg540Pro)
n.2464G>C
n.2491G>C
c.854G>C (p.Arg285Pro)
c.8999G>C (p.Arg3000Pro)
c.4967G>C (p.Arg1656Pro)
n.2660G>C
c.812G>C (p.Arg271Pro)
c.2087G>C (p.Arg696Pro)
c.8987G>C (p.Arg2996Pro)
c.8984G>C (p.Arg2995Pro)
c.8996G>C (p.Arg2999Pro)
c.8975G>C (p.Arg2992Pro)
c.8630G>C (p.Arg2877Pro)
c.4976G>C (p.Arg1659Pro)
c.8870G>C (p.Arg2957Pro)
c.8861G>C (p.Arg2954Pro)
c.8876G>C (p.Arg2959Pro)
c.3173G>C (p.Arg1058Pro)
Xg.31444566C>TCA10377939DMDc.3845G>A (p.Arg1282His)
c.1619G>A (p.Arg540His)
n.2464G>A
n.2491G>A
c.854G>A (p.Arg285His)
c.8999G>A (p.Arg3000His)
c.4967G>A (p.Arg1656His)
n.2660G>A
c.812G>A (p.Arg271His)
c.2087G>A (p.Arg696His)
c.8987G>A (p.Arg2996His)
c.8984G>A (p.Arg2995His)
c.8996G>A (p.Arg2999His)
c.8975G>A (p.Arg2992His)
c.8630G>A (p.Arg2877His)
c.4976G>A (p.Arg1659His)
c.8870G>A (p.Arg2957His)
c.8861G>A (p.Arg2954His)
c.8876G>A (p.Arg2959His)
c.3173G>A (p.Arg1058His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31444567G>ACA412655209DMDc.3844C>T (p.Arg1282Cys)
c.1618C>T (p.Arg540Cys)
n.2463C>T
n.2490C>T
c.853C>T (p.Arg285Cys)
c.8998C>T (p.Arg3000Cys)
c.4966C>T (p.Arg1656Cys)
n.2659C>T
c.811C>T (p.Arg271Cys)
c.2086C>T (p.Arg696Cys)
c.8986C>T (p.Arg2996Cys)
c.8983C>T (p.Arg2995Cys)
c.8995C>T (p.Arg2999Cys)
c.8974C>T (p.Arg2992Cys)
c.8629C>T (p.Arg2877Cys)
c.4975C>T (p.Arg1659Cys)
c.8869C>T (p.Arg2957Cys)
c.8860C>T (p.Arg2954Cys)
c.8875C>T (p.Arg2959Cys)
c.3172C>T (p.Arg1058Cys)
 ClinVar dbSNP gnomAD v4
Xg.31444567G>CCA412655210DMDc.3844C>G (p.Arg1282Gly)
c.1618C>G (p.Arg540Gly)
n.2463C>G
n.2490C>G
c.853C>G (p.Arg285Gly)
c.8998C>G (p.Arg3000Gly)
c.4966C>G (p.Arg1656Gly)
n.2659C>G
c.811C>G (p.Arg271Gly)
c.2086C>G (p.Arg696Gly)
c.8986C>G (p.Arg2996Gly)
c.8983C>G (p.Arg2995Gly)
c.8995C>G (p.Arg2999Gly)
c.8974C>G (p.Arg2992Gly)
c.8629C>G (p.Arg2877Gly)
c.4975C>G (p.Arg1659Gly)
c.8869C>G (p.Arg2957Gly)
c.8860C>G (p.Arg2954Gly)
c.8875C>G (p.Arg2959Gly)
c.3172C>G (p.Arg1058Gly)
Xg.31444567G>TCA412655211DMDc.3844C>A (p.Arg1282Ser)
c.1618C>A (p.Arg540Ser)
n.2463C>A
n.2490C>A
c.853C>A (p.Arg285Ser)
c.8998C>A (p.Arg3000Ser)
c.4966C>A (p.Arg1656Ser)
n.2659C>A
c.811C>A (p.Arg271Ser)
c.2086C>A (p.Arg696Ser)
c.8986C>A (p.Arg2996Ser)
c.8983C>A (p.Arg2995Ser)
c.8995C>A (p.Arg2999Ser)
c.8974C>A (p.Arg2992Ser)
c.8629C>A (p.Arg2877Ser)
c.4975C>A (p.Arg1659Ser)
c.8869C>A (p.Arg2957Ser)
c.8860C>A (p.Arg2954Ser)
c.8875C>A (p.Arg2959Ser)
c.3172C>A (p.Arg1058Ser)
Xg.31444568A=CA2422434057DMDc.3843T= (p.Ala1281=)
c.1617T= (p.Ala539=)
n.2462T=
n.2489T=
c.852T= (p.Ala284=)
c.8997T= (p.Ala2999=)
c.4965T= (p.Ala1655=)
n.2658T=
c.810T= (p.Ala270=)
c.2085T= (p.Ala695=)
c.8985T= (p.Ala2995=)
c.8982T= (p.Ala2994=)
c.8994T= (p.Ala2998=)
c.8973T= (p.Ala2991=)
c.8628T= (p.Ala2876=)
c.4974T= (p.Ala1658=)
c.8868T= (p.Ala2956=)
c.8859T= (p.Ala2953=)
c.8874T= (p.Ala2958=)
c.3171T= (p.Ala1057=)
Xg.31444568A>CCA515858262DMDc.3843T>G (p.Ala1281=)
c.1617T>G (p.Ala539=)
n.2462T>G
n.2489T>G
c.852T>G (p.Ala284=)
c.8997T>G (p.Ala2999=)
c.4965T>G (p.Ala1655=)
n.2658T>G
c.810T>G (p.Ala270=)
c.2085T>G (p.Ala695=)
c.8985T>G (p.Ala2995=)
c.8982T>G (p.Ala2994=)
c.8994T>G (p.Ala2998=)
c.8973T>G (p.Ala2991=)
c.8628T>G (p.Ala2876=)
c.4974T>G (p.Ala1658=)
c.8868T>G (p.Ala2956=)
c.8859T>G (p.Ala2953=)
c.8874T>G (p.Ala2958=)
c.3171T>G (p.Ala1057=)
Xg.31444568A>GCA515858263DMDc.3843T>C (p.Ala1281=)
c.1617T>C (p.Ala539=)
n.2462T>C
n.2489T>C
c.852T>C (p.Ala284=)
c.8997T>C (p.Ala2999=)
c.4965T>C (p.Ala1655=)
n.2658T>C
c.810T>C (p.Ala270=)
c.2085T>C (p.Ala695=)
c.8985T>C (p.Ala2995=)
c.8982T>C (p.Ala2994=)
c.8994T>C (p.Ala2998=)
c.8973T>C (p.Ala2991=)
c.8628T>C (p.Ala2876=)
c.4974T>C (p.Ala1658=)
c.8868T>C (p.Ala2956=)
c.8859T>C (p.Ala2953=)
c.8874T>C (p.Ala2958=)
c.3171T>C (p.Ala1057=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.31444568A>TCA515858264DMDc.3843T>A (p.Ala1281=)
c.1617T>A (p.Ala539=)
n.2462T>A
n.2489T>A
c.852T>A (p.Ala284=)
c.8997T>A (p.Ala2999=)
c.4965T>A (p.Ala1655=)
n.2658T>A
c.810T>A (p.Ala270=)
c.2085T>A (p.Ala695=)
c.8985T>A (p.Ala2995=)
c.8982T>A (p.Ala2994=)
c.8994T>A (p.Ala2998=)
c.8973T>A (p.Ala2991=)
c.8628T>A (p.Ala2876=)
c.4974T>A (p.Ala1658=)
c.8868T>A (p.Ala2956=)
c.8859T>A (p.Ala2953=)
c.8874T>A (p.Ala2958=)
c.3171T>A (p.Ala1057=)
Xg.31444569G>ACA10377940DMDc.3842C>T (p.Ala1281Val)
c.1616C>T (p.Ala539Val)
n.2461C>T
n.2488C>T
c.851C>T (p.Ala284Val)
c.8996C>T (p.Ala2999Val)
c.4964C>T (p.Ala1655Val)
n.2657C>T
c.809C>T (p.Ala270Val)
c.2084C>T (p.Ala695Val)
c.8984C>T (p.Ala2995Val)
c.8981C>T (p.Ala2994Val)
c.8993C>T (p.Ala2998Val)
c.8972C>T (p.Ala2991Val)
c.8627C>T (p.Ala2876Val)
c.4973C>T (p.Ala1658Val)
c.8867C>T (p.Ala2956Val)
c.8858C>T (p.Ala2953Val)
c.8873C>T (p.Ala2958Val)
c.3170C>T (p.Ala1057Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31444569G>CCA412655212DMDc.3842C>G (p.Ala1281Gly)
c.1616C>G (p.Ala539Gly)
n.2461C>G
n.2488C>G
c.851C>G (p.Ala284Gly)
c.8996C>G (p.Ala2999Gly)
c.4964C>G (p.Ala1655Gly)
n.2657C>G
c.809C>G (p.Ala270Gly)
c.2084C>G (p.Ala695Gly)
c.8984C>G (p.Ala2995Gly)
c.8981C>G (p.Ala2994Gly)
c.8993C>G (p.Ala2998Gly)
c.8972C>G (p.Ala2991Gly)
c.8627C>G (p.Ala2876Gly)
c.4973C>G (p.Ala1658Gly)
c.8867C>G (p.Ala2956Gly)
c.8858C>G (p.Ala2953Gly)
c.8873C>G (p.Ala2958Gly)
c.3170C>G (p.Ala1057Gly)
Xg.31444569G=CA2422434058DMDc.3842C= (p.Ala1281=)
c.1616C= (p.Ala539=)
n.2461C=
n.2488C=
c.851C= (p.Ala284=)
c.8996C= (p.Ala2999=)
c.4964C= (p.Ala1655=)
n.2657C=
c.809C= (p.Ala270=)
c.2084C= (p.Ala695=)
c.8984C= (p.Ala2995=)
c.8981C= (p.Ala2994=)
c.8993C= (p.Ala2998=)
c.8972C= (p.Ala2991=)
c.8627C= (p.Ala2876=)
c.4973C= (p.Ala1658=)
c.8867C= (p.Ala2956=)
c.8858C= (p.Ala2953=)
c.8873C= (p.Ala2958=)
c.3170C= (p.Ala1057=)
Xg.31444569G>TCA412655213DMDc.3842C>A (p.Ala1281Asp)
c.1616C>A (p.Ala539Asp)
n.2461C>A
n.2488C>A
c.851C>A (p.Ala284Asp)
c.8996C>A (p.Ala2999Asp)
c.4964C>A (p.Ala1655Asp)
n.2657C>A
c.809C>A (p.Ala270Asp)
c.2084C>A (p.Ala695Asp)
c.8984C>A (p.Ala2995Asp)
c.8981C>A (p.Ala2994Asp)
c.8993C>A (p.Ala2998Asp)
c.8972C>A (p.Ala2991Asp)
c.8627C>A (p.Ala2876Asp)
c.4973C>A (p.Ala1658Asp)
c.8867C>A (p.Ala2956Asp)
c.8858C>A (p.Ala2953Asp)
c.8873C>A (p.Ala2958Asp)
c.3170C>A (p.Ala1057Asp)
Xg.31444570C>ACA412655214DMDc.3841G>T (p.Ala1281Ser)
c.1615G>T (p.Ala539Ser)
n.2460G>T
n.2487G>T
c.850G>T (p.Ala284Ser)
c.8995G>T (p.Ala2999Ser)
c.4963G>T (p.Ala1655Ser)
n.2656G>T
c.808G>T (p.Ala270Ser)
c.2083G>T (p.Ala695Ser)
c.8983G>T (p.Ala2995Ser)
c.8980G>T (p.Ala2994Ser)
c.8992G>T (p.Ala2998Ser)
c.8971G>T (p.Ala2991Ser)
c.8626G>T (p.Ala2876Ser)
c.4972G>T (p.Ala1658Ser)
c.8866G>T (p.Ala2956Ser)
c.8857G>T (p.Ala2953Ser)
c.8872G>T (p.Ala2958Ser)
c.3169G>T (p.Ala1057Ser)
 dbSNP
Xg.31444570C=CA2422434059DMDc.3841G= (p.Ala1281=)
c.1615G= (p.Ala539=)
n.2460G=
n.2487G=
c.850G= (p.Ala284=)
c.8995G= (p.Ala2999=)
c.4963G= (p.Ala1655=)
n.2656G=
c.808G= (p.Ala270=)
c.2083G= (p.Ala695=)
c.8983G= (p.Ala2995=)
c.8980G= (p.Ala2994=)
c.8992G= (p.Ala2998=)
c.8971G= (p.Ala2991=)
c.8626G= (p.Ala2876=)
c.4972G= (p.Ala1658=)
c.8866G= (p.Ala2956=)
c.8857G= (p.Ala2953=)
c.8872G= (p.Ala2958=)
c.3169G= (p.Ala1057=)
Xg.31444570C>GCA328429790DMDc.3841G>C (p.Ala1281Pro)
c.1615G>C (p.Ala539Pro)
n.2460G>C
n.2487G>C
c.850G>C (p.Ala284Pro)
c.8995G>C (p.Ala2999Pro)
c.4963G>C (p.Ala1655Pro)
n.2656G>C
c.808G>C (p.Ala270Pro)
c.2083G>C (p.Ala695Pro)
c.8983G>C (p.Ala2995Pro)
c.8980G>C (p.Ala2994Pro)
c.8992G>C (p.Ala2998Pro)
c.8971G>C (p.Ala2991Pro)
c.8626G>C (p.Ala2876Pro)
c.4972G>C (p.Ala1658Pro)
c.8866G>C (p.Ala2956Pro)
c.8857G>C (p.Ala2953Pro)
c.8872G>C (p.Ala2958Pro)
c.3169G>C (p.Ala1057Pro)
 dbSNP
Xg.31444570C>TCA412655215DMDc.3841G>A (p.Ala1281Thr)
c.1615G>A (p.Ala539Thr)
n.2460G>A
n.2487G>A
c.850G>A (p.Ala284Thr)
c.8995G>A (p.Ala2999Thr)
c.4963G>A (p.Ala1655Thr)
n.2656G>A
c.808G>A (p.Ala270Thr)
c.2083G>A (p.Ala695Thr)
c.8983G>A (p.Ala2995Thr)
c.8980G>A (p.Ala2994Thr)
c.8992G>A (p.Ala2998Thr)
c.8971G>A (p.Ala2991Thr)
c.8626G>A (p.Ala2876Thr)
c.4972G>A (p.Ala1658Thr)
c.8866G>A (p.Ala2956Thr)
c.8857G>A (p.Ala2953Thr)
c.8872G>A (p.Ala2958Thr)
c.3169G>A (p.Ala1057Thr)
 dbSNP gnomAD v4
Xg.31444571A>CCA515858266DMDc.3840T>G (p.Leu1280=)
c.1614T>G (p.Leu538=)
n.2459T>G
n.2486T>G
c.849T>G (p.Leu283=)
c.8994T>G (p.Leu2998=)
c.4962T>G (p.Leu1654=)
n.2655T>G
c.807T>G (p.Leu269=)
c.2082T>G (p.Leu694=)
c.8982T>G (p.Leu2994=)
c.8979T>G (p.Leu2993=)
c.8991T>G (p.Leu2997=)
c.8970T>G (p.Leu2990=)
c.8625T>G (p.Leu2875=)
c.4971T>G (p.Leu1657=)
c.8865T>G (p.Leu2955=)
c.8856T>G (p.Leu2952=)
c.8871T>G (p.Leu2957=)
c.3168T>G (p.Leu1056=)
Xg.31444571A>GCA515858267DMDc.3840T>C (p.Leu1280=)
c.1614T>C (p.Leu538=)
n.2459T>C
n.2486T>C
c.849T>C (p.Leu283=)
c.8994T>C (p.Leu2998=)
c.4962T>C (p.Leu1654=)
n.2655T>C
c.807T>C (p.Leu269=)
c.2082T>C (p.Leu694=)
c.8982T>C (p.Leu2994=)
c.8979T>C (p.Leu2993=)
c.8991T>C (p.Leu2997=)
c.8970T>C (p.Leu2990=)
c.8625T>C (p.Leu2875=)
c.4971T>C (p.Leu1657=)
c.8865T>C (p.Leu2955=)
c.8856T>C (p.Leu2952=)
c.8871T>C (p.Leu2957=)
c.3168T>C (p.Leu1056=)
Xg.31444571A>TCA515858268DMDc.3840T>A (p.Leu1280=)
c.1614T>A (p.Leu538=)
n.2459T>A
n.2486T>A
c.849T>A (p.Leu283=)
c.8994T>A (p.Leu2998=)
c.4962T>A (p.Leu1654=)
n.2655T>A
c.807T>A (p.Leu269=)
c.2082T>A (p.Leu694=)
c.8982T>A (p.Leu2994=)
c.8979T>A (p.Leu2993=)
c.8991T>A (p.Leu2997=)
c.8970T>A (p.Leu2990=)
c.8625T>A (p.Leu2875=)
c.4971T>A (p.Leu1657=)
c.8865T>A (p.Leu2955=)
c.8856T>A (p.Leu2952=)
c.8871T>A (p.Leu2957=)
c.3168T>A (p.Leu1056=)
Xg.31444572A>CCA412655218DMDc.3839T>G (p.Leu1280Arg)
c.1613T>G (p.Leu538Arg)
n.2458T>G
n.2485T>G
c.848T>G (p.Leu283Arg)
c.8993T>G (p.Leu2998Arg)
c.4961T>G (p.Leu1654Arg)
n.2654T>G
c.806T>G (p.Leu269Arg)
c.2081T>G (p.Leu694Arg)
c.8981T>G (p.Leu2994Arg)
c.8978T>G (p.Leu2993Arg)
c.8990T>G (p.Leu2997Arg)
c.8969T>G (p.Leu2990Arg)
c.8624T>G (p.Leu2875Arg)
c.4970T>G (p.Leu1657Arg)
c.8864T>G (p.Leu2955Arg)
c.8855T>G (p.Leu2952Arg)
c.8870T>G (p.Leu2957Arg)
c.3167T>G (p.Leu1056Arg)
Xg.31444572A>GCA412655216DMDc.3839T>C (p.Leu1280Pro)
c.1613T>C (p.Leu538Pro)
n.2458T>C
n.2485T>C
c.848T>C (p.Leu283Pro)
c.8993T>C (p.Leu2998Pro)
c.4961T>C (p.Leu1654Pro)
n.2654T>C
c.806T>C (p.Leu269Pro)
c.2081T>C (p.Leu694Pro)
c.8981T>C (p.Leu2994Pro)
c.8978T>C (p.Leu2993Pro)
c.8990T>C (p.Leu2997Pro)
c.8969T>C (p.Leu2990Pro)
c.8624T>C (p.Leu2875Pro)
c.4970T>C (p.Leu1657Pro)
c.8864T>C (p.Leu2955Pro)
c.8855T>C (p.Leu2952Pro)
c.8870T>C (p.Leu2957Pro)
c.3167T>C (p.Leu1056Pro)
Xg.31444572A>TCA412655217DMDc.3839T>A (p.Leu1280His)
c.1613T>A (p.Leu538His)
n.2458T>A
n.2485T>A
c.848T>A (p.Leu283His)
c.8993T>A (p.Leu2998His)
c.4961T>A (p.Leu1654His)
n.2654T>A
c.806T>A (p.Leu269His)
c.2081T>A (p.Leu694His)
c.8981T>A (p.Leu2994His)
c.8978T>A (p.Leu2993His)
c.8990T>A (p.Leu2997His)
c.8969T>A (p.Leu2990His)
c.8624T>A (p.Leu2875His)
c.4970T>A (p.Leu1657His)
c.8864T>A (p.Leu2955His)
c.8855T>A (p.Leu2952His)
c.8870T>A (p.Leu2957His)
c.3167T>A (p.Leu1056His)
Xg.31444572_31444573delinsAGCA2422434060DMDc.3838_3839delinsCT (p.Leu1280=)
c.1612_1613delinsCT (p.Leu538=)
n.2457_2458delinsCT
n.2484_2485delinsCT
c.847_848delinsCT (p.Leu283=)
c.8992_8993delinsCT (p.Leu2998=)
c.4960_4961delinsCT (p.Leu1654=)
n.2653_2654delinsCT
c.805_806delinsCT (p.Leu269=)
c.2080_2081delinsCT (p.Leu694=)
c.8980_8981delinsCT (p.Leu2994=)
c.8977_8978delinsCT (p.Leu2993=)
c.8989_8990delinsCT (p.Leu2997=)
c.8968_8969delinsCT (p.Leu2990=)
c.8623_8624delinsCT (p.Leu2875=)
c.4969_4970delinsCT (p.Leu1657=)
c.8863_8864delinsCT (p.Leu2955=)
c.8854_8855delinsCT (p.Leu2952=)
c.8869_8870delinsCT (p.Leu2957=)
c.3166_3167delinsCT (p.Leu1056=)
Xg.31444573G>ACA412655219DMDc.3838C>T (p.Leu1280Phe)
c.1612C>T (p.Leu538Phe)
n.2457C>T
n.2484C>T
c.847C>T (p.Leu283Phe)
c.8992C>T (p.Leu2998Phe)
c.4960C>T (p.Leu1654Phe)
n.2653C>T
c.805C>T (p.Leu269Phe)
c.2080C>T (p.Leu694Phe)
c.8980C>T (p.Leu2994Phe)
c.8977C>T (p.Leu2993Phe)
c.8989C>T (p.Leu2997Phe)
c.8968C>T (p.Leu2990Phe)
c.8623C>T (p.Leu2875Phe)
c.4969C>T (p.Leu1657Phe)
c.8863C>T (p.Leu2955Phe)
c.8854C>T (p.Leu2952Phe)
c.8869C>T (p.Leu2957Phe)
c.3166C>T (p.Leu1056Phe)
Xg.31444573G>CCA412655220DMDc.3838C>G (p.Leu1280Val)
c.1612C>G (p.Leu538Val)
n.2457C>G
n.2484C>G
c.847C>G (p.Leu283Val)
c.8992C>G (p.Leu2998Val)
c.4960C>G (p.Leu1654Val)
n.2653C>G
c.805C>G (p.Leu269Val)
c.2080C>G (p.Leu694Val)
c.8980C>G (p.Leu2994Val)
c.8977C>G (p.Leu2993Val)
c.8989C>G (p.Leu2997Val)
c.8968C>G (p.Leu2990Val)
c.8623C>G (p.Leu2875Val)
c.4969C>G (p.Leu1657Val)
c.8863C>G (p.Leu2955Val)
c.8854C>G (p.Leu2952Val)
c.8869C>G (p.Leu2957Val)
c.3166C>G (p.Leu1056Val)
 dbSNP gnomAD v3 gnomAD v4
Xg.31444573G=CA2422434061DMDc.3838C= (p.Leu1280=)
c.1612C= (p.Leu538=)
n.2457C=
n.2484C=
c.847C= (p.Leu283=)
c.8992C= (p.Leu2998=)
c.4960C= (p.Leu1654=)
n.2653C=
c.805C= (p.Leu269=)
c.2080C= (p.Leu694=)
c.8980C= (p.Leu2994=)
c.8977C= (p.Leu2993=)
c.8989C= (p.Leu2997=)
c.8968C= (p.Leu2990=)
c.8623C= (p.Leu2875=)
c.4969C= (p.Leu1657=)
c.8863C= (p.Leu2955=)
c.8854C= (p.Leu2952=)
c.8869C= (p.Leu2957=)
c.3166C= (p.Leu1056=)
Xg.31444573G>TCA412655221DMDc.3838C>A (p.Leu1280Ile)
c.1612C>A (p.Leu538Ile)
n.2457C>A
n.2484C>A
c.847C>A (p.Leu283Ile)
c.8992C>A (p.Leu2998Ile)
c.4960C>A (p.Leu1654Ile)
n.2653C>A
c.805C>A (p.Leu269Ile)
c.2080C>A (p.Leu694Ile)
c.8980C>A (p.Leu2994Ile)
c.8977C>A (p.Leu2993Ile)
c.8989C>A (p.Leu2997Ile)
c.8968C>A (p.Leu2990Ile)
c.8623C>A (p.Leu2875Ile)
c.4969C>A (p.Leu1657Ile)
c.8863C>A (p.Leu2955Ile)
c.8854C>A (p.Leu2952Ile)
c.8869C>A (p.Leu2957Ile)
c.3166C>A (p.Leu1056Ile)
Xg.31444574delCA915950939DMDc.3838del (p.Ala1281LeufsTer22)
c.1612del (p.Ala539LeufsTer22)
n.2457del
n.2484del
c.847del (p.Ala284LeufsTer22)
c.8992del (p.Ala2999LeufsTer22)
c.4960del (p.Ala1655LeufsTer22)
n.2653del
c.805del (p.Ala270LeufsTer22)
c.2080del (p.Ala695LeufsTer22)
c.8980del (p.Ala2995LeufsTer22)
c.8977del (p.Ala2994LeufsTer22)
c.8989del (p.Ala2998LeufsTer22)
c.8968del (p.Ala2991LeufsTer22)
c.8623del (p.Ala2876LeufsTer22)
c.4969del (p.Ala1658LeufsTer22)
c.8863del (p.Ala2956LeufsTer22)
c.8854del (p.Ala2953LeufsTer22)
c.8869del (p.Ala2958LeufsTer22)
c.3166del (p.Ala1057LeufsTer22)
 ClinVar dbSNP
Xg.31444574G>ACA515858269DMDc.3837C>T (p.Asp1279=)
c.1611C>T (p.Asp537=)
n.2456C>T
n.2483C>T
c.846C>T (p.Asp282=)
c.8991C>T (p.Asp2997=)
c.4959C>T (p.Asp1653=)
n.2652C>T
c.804C>T (p.Asp268=)
c.2079C>T (p.Asp693=)
c.8979C>T (p.Asp2993=)
c.8976C>T (p.Asp2992=)
c.8988C>T (p.Asp2996=)
c.8967C>T (p.Asp2989=)
c.8622C>T (p.Asp2874=)
c.4968C>T (p.Asp1656=)
c.8862C>T (p.Asp2954=)
c.8853C>T (p.Asp2951=)
c.8868C>T (p.Asp2956=)
c.3165C>T (p.Asp1055=)
Xg.31444574G>CCA412655222DMDc.3837C>G (p.Asp1279Glu)
c.1611C>G (p.Asp537Glu)
n.2456C>G
n.2483C>G
c.846C>G (p.Asp282Glu)
c.8991C>G (p.Asp2997Glu)
c.4959C>G (p.Asp1653Glu)
n.2652C>G
c.804C>G (p.Asp268Glu)
c.2079C>G (p.Asp693Glu)
c.8979C>G (p.Asp2993Glu)
c.8976C>G (p.Asp2992Glu)
c.8988C>G (p.Asp2996Glu)
c.8967C>G (p.Asp2989Glu)
c.8622C>G (p.Asp2874Glu)
c.4968C>G (p.Asp1656Glu)
c.8862C>G (p.Asp2954Glu)
c.8853C>G (p.Asp2951Glu)
c.8868C>G (p.Asp2956Glu)
c.3165C>G (p.Asp1055Glu)
Xg.31444574G>TCA412655223DMDc.3837C>A (p.Asp1279Glu)
c.1611C>A (p.Asp537Glu)
n.2456C>A
n.2483C>A
c.846C>A (p.Asp282Glu)
c.8991C>A (p.Asp2997Glu)
c.4959C>A (p.Asp1653Glu)
n.2652C>A
c.804C>A (p.Asp268Glu)
c.2079C>A (p.Asp693Glu)
c.8979C>A (p.Asp2993Glu)
c.8976C>A (p.Asp2992Glu)
c.8988C>A (p.Asp2996Glu)
c.8967C>A (p.Asp2989Glu)
c.8622C>A (p.Asp2874Glu)
c.4968C>A (p.Asp1656Glu)
c.8862C>A (p.Asp2954Glu)
c.8853C>A (p.Asp2951Glu)
c.8868C>A (p.Asp2956Glu)
c.3165C>A (p.Asp1055Glu)
Xg.31444575T>ACA412655224DMDc.3836A>T (p.Asp1279Val)
c.1610A>T (p.Asp537Val)
n.2455A>T
n.2482A>T
c.845A>T (p.Asp282Val)
c.8990A>T (p.Asp2997Val)
c.4958A>T (p.Asp1653Val)
n.2651A>T
c.803A>T (p.Asp268Val)
c.2078A>T (p.Asp693Val)
c.8978A>T (p.Asp2993Val)
c.8975A>T (p.Asp2992Val)
c.8987A>T (p.Asp2996Val)
c.8966A>T (p.Asp2989Val)
c.8621A>T (p.Asp2874Val)
c.4967A>T (p.Asp1656Val)
c.8861A>T (p.Asp2954Val)
c.8852A>T (p.Asp2951Val)
c.8867A>T (p.Asp2956Val)
c.3164A>T (p.Asp1055Val)
Xg.31444575T>CCA412655225DMDc.3836A>G (p.Asp1279Gly)
c.1610A>G (p.Asp537Gly)
n.2455A>G
n.2482A>G
c.845A>G (p.Asp282Gly)
c.8990A>G (p.Asp2997Gly)
c.4958A>G (p.Asp1653Gly)
n.2651A>G
c.803A>G (p.Asp268Gly)
c.2078A>G (p.Asp693Gly)
c.8978A>G (p.Asp2993Gly)
c.8975A>G (p.Asp2992Gly)
c.8987A>G (p.Asp2996Gly)
c.8966A>G (p.Asp2989Gly)
c.8621A>G (p.Asp2874Gly)
c.4967A>G (p.Asp1656Gly)
c.8861A>G (p.Asp2954Gly)
c.8852A>G (p.Asp2951Gly)
c.8867A>G (p.Asp2956Gly)
c.3164A>G (p.Asp1055Gly)
 gnomAD v4
Xg.31444575T>GCA412655226DMDc.3836A>C (p.Asp1279Ala)
c.1610A>C (p.Asp537Ala)
n.2455A>C
n.2482A>C
c.845A>C (p.Asp282Ala)
c.8990A>C (p.Asp2997Ala)
c.4958A>C (p.Asp1653Ala)
n.2651A>C
c.803A>C (p.Asp268Ala)
c.2078A>C (p.Asp693Ala)
c.8978A>C (p.Asp2993Ala)
c.8975A>C (p.Asp2992Ala)
c.8987A>C (p.Asp2996Ala)
c.8966A>C (p.Asp2989Ala)
c.8621A>C (p.Asp2874Ala)
c.4967A>C (p.Asp1656Ala)
c.8861A>C (p.Asp2954Ala)
c.8852A>C (p.Asp2951Ala)
c.8867A>C (p.Asp2956Ala)
c.3164A>C (p.Asp1055Ala)
Xg.31444576C>ACA412655227DMDc.3835G>T (p.Asp1279Tyr)
c.1609G>T (p.Asp537Tyr)
n.2454G>T
n.2481G>T
c.844G>T (p.Asp282Tyr)
c.8989G>T (p.Asp2997Tyr)
c.4957G>T (p.Asp1653Tyr)
n.2650G>T
c.802G>T (p.Asp268Tyr)
c.2077G>T (p.Asp693Tyr)
c.8977G>T (p.Asp2993Tyr)
c.8974G>T (p.Asp2992Tyr)
c.8986G>T (p.Asp2996Tyr)
c.8965G>T (p.Asp2989Tyr)
c.8620G>T (p.Asp2874Tyr)
c.4966G>T (p.Asp1656Tyr)
c.8860G>T (p.Asp2954Tyr)
c.8851G>T (p.Asp2951Tyr)
c.8866G>T (p.Asp2956Tyr)
c.3163G>T (p.Asp1055Tyr)
 gnomAD v4
Xg.31444576C=CA2422434062DMDc.3835G= (p.Asp1279=)
c.1609G= (p.Asp537=)
n.2454G=
n.2481G=
c.844G= (p.Asp282=)
c.8989G= (p.Asp2997=)
c.4957G= (p.Asp1653=)
n.2650G=
c.802G= (p.Asp268=)
c.2077G= (p.Asp693=)
c.8977G= (p.Asp2993=)
c.8974G= (p.Asp2992=)
c.8986G= (p.Asp2996=)
c.8965G= (p.Asp2989=)
c.8620G= (p.Asp2874=)
c.4966G= (p.Asp1656=)
c.8860G= (p.Asp2954=)
c.8851G= (p.Asp2951=)
c.8866G= (p.Asp2956=)
c.3163G= (p.Asp1055=)
Xg.31444576C>GCA412655228DMDc.3835G>C (p.Asp1279His)
c.1609G>C (p.Asp537His)
n.2454G>C
n.2481G>C
c.844G>C (p.Asp282His)
c.8989G>C (p.Asp2997His)
c.4957G>C (p.Asp1653His)
n.2650G>C
c.802G>C (p.Asp268His)
c.2077G>C (p.Asp693His)
c.8977G>C (p.Asp2993His)
c.8974G>C (p.Asp2992His)
c.8986G>C (p.Asp2996His)
c.8965G>C (p.Asp2989His)
c.8620G>C (p.Asp2874His)
c.4966G>C (p.Asp1656His)
c.8860G>C (p.Asp2954His)
c.8851G>C (p.Asp2951His)
c.8866G>C (p.Asp2956His)
c.3163G>C (p.Asp1055His)
 dbSNP
Xg.31444576C>TCA412655229DMDc.3835G>A (p.Asp1279Asn)
c.1609G>A (p.Asp537Asn)
n.2454G>A
n.2481G>A
c.844G>A (p.Asp282Asn)
c.8989G>A (p.Asp2997Asn)
c.4957G>A (p.Asp1653Asn)
n.2650G>A
c.802G>A (p.Asp268Asn)
c.2077G>A (p.Asp693Asn)
c.8977G>A (p.Asp2993Asn)
c.8974G>A (p.Asp2992Asn)
c.8986G>A (p.Asp2996Asn)
c.8965G>A (p.Asp2989Asn)
c.8620G>A (p.Asp2874Asn)
c.4966G>A (p.Asp1656Asn)
c.8860G>A (p.Asp2954Asn)
c.8851G>A (p.Asp2951Asn)
c.8866G>A (p.Asp2956Asn)
c.3163G>A (p.Asp1055Asn)
Xg.31444577A>CCA412655231DMDc.3834T>G (p.Asn1278Lys)
c.1608T>G (p.Asn536Lys)
n.2453T>G
n.2480T>G
c.843T>G (p.Asn281Lys)
c.8988T>G (p.Asn2996Lys)
c.4956T>G (p.Asn1652Lys)
n.2649T>G
c.801T>G (p.Asn267Lys)
c.2076T>G (p.Asn692Lys)
c.8976T>G (p.Asn2992Lys)
c.8973T>G (p.Asn2991Lys)
c.8985T>G (p.Asn2995Lys)
c.8964T>G (p.Asn2988Lys)
c.8619T>G (p.Asn2873Lys)
c.4965T>G (p.Asn1655Lys)
c.8859T>G (p.Asn2953Lys)
c.8850T>G (p.Asn2950Lys)
c.8865T>G (p.Asn2955Lys)
c.3162T>G (p.Asn1054Lys)
Xg.31444577A>GCA515858271DMDc.3834T>C (p.Asn1278=)
c.1608T>C (p.Asn536=)
n.2453T>C
n.2480T>C
c.843T>C (p.Asn281=)
c.8988T>C (p.Asn2996=)
c.4956T>C (p.Asn1652=)
n.2649T>C
c.801T>C (p.Asn267=)
c.2076T>C (p.Asn692=)
c.8976T>C (p.Asn2992=)
c.8973T>C (p.Asn2991=)
c.8985T>C (p.Asn2995=)
c.8964T>C (p.Asn2988=)
c.8619T>C (p.Asn2873=)
c.4965T>C (p.Asn1655=)
c.8859T>C (p.Asn2953=)
c.8850T>C (p.Asn2950=)
c.8865T>C (p.Asn2955=)
c.3162T>C (p.Asn1054=)
 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31444577A>TCA412655230DMDc.3834T>A (p.Asn1278Lys)
c.1608T>A (p.Asn536Lys)
n.2453T>A
n.2480T>A
c.843T>A (p.Asn281Lys)
c.8988T>A (p.Asn2996Lys)
c.4956T>A (p.Asn1652Lys)
n.2649T>A
c.801T>A (p.Asn267Lys)
c.2076T>A (p.Asn692Lys)
c.8976T>A (p.Asn2992Lys)
c.8973T>A (p.Asn2991Lys)
c.8985T>A (p.Asn2995Lys)
c.8964T>A (p.Asn2988Lys)
c.8619T>A (p.Asn2873Lys)
c.4965T>A (p.Asn1655Lys)
c.8859T>A (p.Asn2953Lys)
c.8850T>A (p.Asn2950Lys)
c.8865T>A (p.Asn2955Lys)
c.3162T>A (p.Asn1054Lys)
Xg.31444578T>ACA412655232DMDc.3833A>T (p.Asn1278Ile)
c.1607A>T (p.Asn536Ile)
n.2452A>T
n.2479A>T
c.842A>T (p.Asn281Ile)
c.8987A>T (p.Asn2996Ile)
c.4955A>T (p.Asn1652Ile)
n.2648A>T
c.800A>T (p.Asn267Ile)
c.2075A>T (p.Asn692Ile)
c.8975A>T (p.Asn2992Ile)
c.8972A>T (p.Asn2991Ile)
c.8984A>T (p.Asn2995Ile)
c.8963A>T (p.Asn2988Ile)
c.8618A>T (p.Asn2873Ile)
c.4964A>T (p.Asn1655Ile)
c.8858A>T (p.Asn2953Ile)
c.8849A>T (p.Asn2950Ile)
c.8864A>T (p.Asn2955Ile)
c.3161A>T (p.Asn1054Ile)
Xg.31444578T>CCA412655233DMDc.3833A>G (p.Asn1278Ser)
c.1607A>G (p.Asn536Ser)
n.2452A>G
n.2479A>G
c.842A>G (p.Asn281Ser)
c.8987A>G (p.Asn2996Ser)
c.4955A>G (p.Asn1652Ser)
n.2648A>G
c.800A>G (p.Asn267Ser)
c.2075A>G (p.Asn692Ser)
c.8975A>G (p.Asn2992Ser)
c.8972A>G (p.Asn2991Ser)
c.8984A>G (p.Asn2995Ser)
c.8963A>G (p.Asn2988Ser)
c.8618A>G (p.Asn2873Ser)
c.4964A>G (p.Asn1655Ser)
c.8858A>G (p.Asn2953Ser)
c.8849A>G (p.Asn2950Ser)
c.8864A>G (p.Asn2955Ser)
c.3161A>G (p.Asn1054Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.31444578T>GCA412655234DMDc.3833A>C (p.Asn1278Thr)
c.1607A>C (p.Asn536Thr)
n.2452A>C
n.2479A>C
c.842A>C (p.Asn281Thr)
c.8987A>C (p.Asn2996Thr)
c.4955A>C (p.Asn1652Thr)
n.2648A>C
c.800A>C (p.Asn267Thr)
c.2075A>C (p.Asn692Thr)
c.8975A>C (p.Asn2992Thr)
c.8972A>C (p.Asn2991Thr)
c.8984A>C (p.Asn2995Thr)
c.8963A>C (p.Asn2988Thr)
c.8618A>C (p.Asn2873Thr)
c.4964A>C (p.Asn1655Thr)
c.8858A>C (p.Asn2953Thr)
c.8849A>C (p.Asn2950Thr)
c.8864A>C (p.Asn2955Thr)
c.3161A>C (p.Asn1054Thr)
Xg.31444578T=CA2422434063DMDc.3833A= (p.Asn1278=)
c.1607A= (p.Asn536=)
n.2452A=
n.2479A=
c.842A= (p.Asn281=)
c.8987A= (p.Asn2996=)
c.4955A= (p.Asn1652=)
n.2648A=
c.800A= (p.Asn267=)
c.2075A= (p.Asn692=)
c.8975A= (p.Asn2992=)
c.8972A= (p.Asn2991=)
c.8984A= (p.Asn2995=)
c.8963A= (p.Asn2988=)
c.8618A= (p.Asn2873=)
c.4964A= (p.Asn1655=)
c.8858A= (p.Asn2953=)
c.8849A= (p.Asn2950=)
c.8864A= (p.Asn2955=)
c.3161A= (p.Asn1054=)
Xg.31444579T>ACA412655235DMDc.3832A>T (p.Asn1278Tyr)
c.1606A>T (p.Asn536Tyr)
n.2451A>T
n.2478A>T
c.841A>T (p.Asn281Tyr)
c.8986A>T (p.Asn2996Tyr)
c.4954A>T (p.Asn1652Tyr)
n.2647A>T
c.799A>T (p.Asn267Tyr)
c.2074A>T (p.Asn692Tyr)
c.8974A>T (p.Asn2992Tyr)
c.8971A>T (p.Asn2991Tyr)
c.8983A>T (p.Asn2995Tyr)
c.8962A>T (p.Asn2988Tyr)
c.8617A>T (p.Asn2873Tyr)
c.4963A>T (p.Asn1655Tyr)
c.8857A>T (p.Asn2953Tyr)
c.8848A>T (p.Asn2950Tyr)
c.8863A>T (p.Asn2955Tyr)
c.3160A>T (p.Asn1054Tyr)
Xg.31444579T>CCA412655236DMDc.3832A>G (p.Asn1278Asp)
c.1606A>G (p.Asn536Asp)
n.2451A>G
n.2478A>G
c.841A>G (p.Asn281Asp)
c.8986A>G (p.Asn2996Asp)
c.4954A>G (p.Asn1652Asp)
n.2647A>G
c.799A>G (p.Asn267Asp)
c.2074A>G (p.Asn692Asp)
c.8974A>G (p.Asn2992Asp)
c.8971A>G (p.Asn2991Asp)
c.8983A>G (p.Asn2995Asp)
c.8962A>G (p.Asn2988Asp)
c.8617A>G (p.Asn2873Asp)
c.4963A>G (p.Asn1655Asp)
c.8857A>G (p.Asn2953Asp)
c.8848A>G (p.Asn2950Asp)
c.8863A>G (p.Asn2955Asp)
c.3160A>G (p.Asn1054Asp)
 gnomAD v4
Xg.31444579T>GCA412655237DMDc.3832A>C (p.Asn1278His)
c.1606A>C (p.Asn536His)
n.2451A>C
n.2478A>C
c.841A>C (p.Asn281His)
c.8986A>C (p.Asn2996His)
c.4954A>C (p.Asn1652His)
n.2647A>C
c.799A>C (p.Asn267His)
c.2074A>C (p.Asn692His)
c.8974A>C (p.Asn2992His)
c.8971A>C (p.Asn2991His)
c.8983A>C (p.Asn2995His)
c.8962A>C (p.Asn2988His)
c.8617A>C (p.Asn2873His)
c.4963A>C (p.Asn1655His)
c.8857A>C (p.Asn2953His)
c.8848A>C (p.Asn2950His)
c.8863A>C (p.Asn2955His)
c.3160A>C (p.Asn1054His)
Xg.31444580G>ACA515858275DMDc.3831C>T (p.Val1277=)
c.1605C>T (p.Val535=)
n.2450C>T
n.2477C>T
c.840C>T (p.Val280=)
c.8985C>T (p.Val2995=)
c.4953C>T (p.Val1651=)
n.2646C>T
c.798C>T (p.Val266=)
c.2073C>T (p.Val691=)
c.8973C>T (p.Val2991=)
c.8970C>T (p.Val2990=)
c.8982C>T (p.Val2994=)
c.8961C>T (p.Val2987=)
c.8616C>T (p.Val2872=)
c.4962C>T (p.Val1654=)
c.8856C>T (p.Val2952=)
c.8847C>T (p.Val2949=)
c.8862C>T (p.Val2954=)
c.3159C>T (p.Val1053=)
 dbSNP gnomAD v2 gnomAD v4
Xg.31444580G>CCA515858276DMDc.3831C>G (p.Val1277=)
c.1605C>G (p.Val535=)
n.2450C>G
n.2477C>G
c.840C>G (p.Val280=)
c.8985C>G (p.Val2995=)
c.4953C>G (p.Val1651=)
n.2646C>G
c.798C>G (p.Val266=)
c.2073C>G (p.Val691=)
c.8973C>G (p.Val2991=)
c.8970C>G (p.Val2990=)
c.8982C>G (p.Val2994=)
c.8961C>G (p.Val2987=)
c.8616C>G (p.Val2872=)
c.4962C>G (p.Val1654=)
c.8856C>G (p.Val2952=)
c.8847C>G (p.Val2949=)
c.8862C>G (p.Val2954=)
c.3159C>G (p.Val1053=)
Xg.31444580G=CA2422434064DMDc.3831C= (p.Val1277=)
c.1605C= (p.Val535=)
n.2450C=
n.2477C=
c.840C= (p.Val280=)
c.8985C= (p.Val2995=)
c.4953C= (p.Val1651=)
n.2646C=
c.798C= (p.Val266=)
c.2073C= (p.Val691=)
c.8973C= (p.Val2991=)
c.8970C= (p.Val2990=)
c.8982C= (p.Val2994=)
c.8961C= (p.Val2987=)
c.8616C= (p.Val2872=)
c.4962C= (p.Val1654=)
c.8856C= (p.Val2952=)
c.8847C= (p.Val2949=)
c.8862C= (p.Val2954=)
c.3159C= (p.Val1053=)
Xg.31444580G>TCA515858277DMDc.3831C>A (p.Val1277=)
c.1605C>A (p.Val535=)
n.2450C>A
n.2477C>A
c.840C>A (p.Val280=)
c.8985C>A (p.Val2995=)
c.4953C>A (p.Val1651=)
n.2646C>A
c.798C>A (p.Val266=)
c.2073C>A (p.Val691=)
c.8973C>A (p.Val2991=)
c.8970C>A (p.Val2990=)
c.8982C>A (p.Val2994=)
c.8961C>A (p.Val2987=)
c.8616C>A (p.Val2872=)
c.4962C>A (p.Val1654=)
c.8856C>A (p.Val2952=)
c.8847C>A (p.Val2949=)
c.8862C>A (p.Val2954=)
c.3159C>A (p.Val1053=)
 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31444581A>CCA412655240DMDc.3830T>G (p.Val1277Gly)
c.1604T>G (p.Val535Gly)
n.2449T>G
n.2476T>G
c.839T>G (p.Val280Gly)
c.8984T>G (p.Val2995Gly)
c.4952T>G (p.Val1651Gly)
n.2645T>G
c.797T>G (p.Val266Gly)
c.2072T>G (p.Val691Gly)
c.8972T>G (p.Val2991Gly)
c.8969T>G (p.Val2990Gly)
c.8981T>G (p.Val2994Gly)
c.8960T>G (p.Val2987Gly)
c.8615T>G (p.Val2872Gly)
c.4961T>G (p.Val1654Gly)
c.8855T>G (p.Val2952Gly)
c.8846T>G (p.Val2949Gly)
c.8861T>G (p.Val2954Gly)
c.3158T>G (p.Val1053Gly)
Xg.31444581A>GCA412655238DMDc.3830T>C (p.Val1277Ala)
c.1604T>C (p.Val535Ala)
n.2449T>C
n.2476T>C
c.839T>C (p.Val280Ala)
c.8984T>C (p.Val2995Ala)
c.4952T>C (p.Val1651Ala)
n.2645T>C
c.797T>C (p.Val266Ala)
c.2072T>C (p.Val691Ala)
c.8972T>C (p.Val2991Ala)
c.8969T>C (p.Val2990Ala)
c.8981T>C (p.Val2994Ala)
c.8960T>C (p.Val2987Ala)
c.8615T>C (p.Val2872Ala)
c.4961T>C (p.Val1654Ala)
c.8855T>C (p.Val2952Ala)
c.8846T>C (p.Val2949Ala)
c.8861T>C (p.Val2954Ala)
c.3158T>C (p.Val1053Ala)
 ClinVar gnomAD v4
Xg.31444581A>TCA412655239DMDc.3830T>A (p.Val1277Asp)
c.1604T>A (p.Val535Asp)
n.2449T>A
n.2476T>A
c.839T>A (p.Val280Asp)
c.8984T>A (p.Val2995Asp)
c.4952T>A (p.Val1651Asp)
n.2645T>A
c.797T>A (p.Val266Asp)
c.2072T>A (p.Val691Asp)
c.8972T>A (p.Val2991Asp)
c.8969T>A (p.Val2990Asp)
c.8981T>A (p.Val2994Asp)
c.8960T>A (p.Val2987Asp)
c.8615T>A (p.Val2872Asp)
c.4961T>A (p.Val1654Asp)
c.8855T>A (p.Val2952Asp)
c.8846T>A (p.Val2949Asp)
c.8861T>A (p.Val2954Asp)
c.3158T>A (p.Val1053Asp)
Xg.31444582C>ACA412655241DMDc.3829G>T (p.Val1277Phe)
c.1603G>T (p.Val535Phe)
n.2448G>T
n.2475G>T
c.838G>T (p.Val280Phe)
c.8983G>T (p.Val2995Phe)
c.4951G>T (p.Val1651Phe)
n.2644G>T
c.796G>T (p.Val266Phe)
c.2071G>T (p.Val691Phe)
c.8971G>T (p.Val2991Phe)
c.8968G>T (p.Val2990Phe)
c.8980G>T (p.Val2994Phe)
c.8959G>T (p.Val2987Phe)
c.8614G>T (p.Val2872Phe)
c.4960G>T (p.Val1654Phe)
c.8854G>T (p.Val2952Phe)
c.8845G>T (p.Val2949Phe)
c.8860G>T (p.Val2954Phe)
c.3157G>T (p.Val1053Phe)
Xg.31444582C=CA2422434065DMDc.3829G= (p.Val1277=)
c.1603G= (p.Val535=)
n.2448G=
n.2475G=
c.838G= (p.Val280=)
c.8983G= (p.Val2995=)
c.4951G= (p.Val1651=)
n.2644G=
c.796G= (p.Val266=)
c.2071G= (p.Val691=)
c.8971G= (p.Val2991=)
c.8968G= (p.Val2990=)
c.8980G= (p.Val2994=)
c.8959G= (p.Val2987=)
c.8614G= (p.Val2872=)
c.4960G= (p.Val1654=)
c.8854G= (p.Val2952=)
c.8845G= (p.Val2949=)
c.8860G= (p.Val2954=)
c.3157G= (p.Val1053=)
Xg.31444582C>GCA412655242DMDc.3829G>C (p.Val1277Leu)
c.1603G>C (p.Val535Leu)
n.2448G>C
n.2475G>C
c.838G>C (p.Val280Leu)
c.8983G>C (p.Val2995Leu)
c.4951G>C (p.Val1651Leu)
n.2644G>C
c.796G>C (p.Val266Leu)
c.2071G>C (p.Val691Leu)
c.8971G>C (p.Val2991Leu)
c.8968G>C (p.Val2990Leu)
c.8980G>C (p.Val2994Leu)
c.8959G>C (p.Val2987Leu)
c.8614G>C (p.Val2872Leu)
c.4960G>C (p.Val1654Leu)
c.8854G>C (p.Val2952Leu)
c.8845G>C (p.Val2949Leu)
c.8860G>C (p.Val2954Leu)
c.3157G>C (p.Val1053Leu)
Xg.31444582C>TCA10377941DMDc.3829G>A (p.Val1277Ile)
c.1603G>A (p.Val535Ile)
n.2448G>A
n.2475G>A
c.838G>A (p.Val280Ile)
c.8983G>A (p.Val2995Ile)
c.4951G>A (p.Val1651Ile)
n.2644G>A
c.796G>A (p.Val266Ile)
c.2071G>A (p.Val691Ile)
c.8971G>A (p.Val2991Ile)
c.8968G>A (p.Val2990Ile)
c.8980G>A (p.Val2994Ile)
c.8959G>A (p.Val2987Ile)
c.8614G>A (p.Val2872Ile)
c.4960G>A (p.Val1654Ile)
c.8854G>A (p.Val2952Ile)
c.8845G>A (p.Val2949Ile)
c.8860G>A (p.Val2954Ile)
c.3157G>A (p.Val1053Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.31444583G>ACA515858279DMDc.3828C>T (p.His1276=)
c.1602C>T (p.His534=)
n.2447C>T
n.2474C>T
c.837C>T (p.His279=)
c.8982C>T (p.His2994=)
c.4950C>T (p.His1650=)
n.2643C>T
c.795C>T (p.His265=)
c.2070C>T (p.His690=)
c.8970C>T (p.His2990=)
c.8967C>T (p.His2989=)
c.8979C>T (p.His2993=)
c.8958C>T (p.His2986=)
c.8613C>T (p.His2871=)
c.4959C>T (p.His1653=)
c.8853C>T (p.His2951=)
c.8844C>T (p.His2948=)
c.8859C>T (p.His2953=)
c.3156C>T (p.His1052=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.31444583G>CCA412655243DMDc.3828C>G (p.His1276Gln)
c.1602C>G (p.His534Gln)
n.2447C>G
n.2474C>G
c.837C>G (p.His279Gln)
c.8982C>G (p.His2994Gln)
c.4950C>G (p.His1650Gln)
n.2643C>G
c.795C>G (p.His265Gln)
c.2070C>G (p.His690Gln)
c.8970C>G (p.His2990Gln)
c.8967C>G (p.His2989Gln)
c.8979C>G (p.His2993Gln)
c.8958C>G (p.His2986Gln)
c.8613C>G (p.His2871Gln)
c.4959C>G (p.His1653Gln)
c.8853C>G (p.His2951Gln)
c.8844C>G (p.His2948Gln)
c.8859C>G (p.His2953Gln)
c.3156C>G (p.His1052Gln)
Xg.31444583G=CA2422434066DMDc.3828C= (p.His1276=)
c.1602C= (p.His534=)
n.2447C=
n.2474C=
c.837C= (p.His279=)
c.8982C= (p.His2994=)
c.4950C= (p.His1650=)
n.2643C=
c.795C= (p.His265=)
c.2070C= (p.His690=)
c.8970C= (p.His2990=)
c.8967C= (p.His2989=)
c.8979C= (p.His2993=)
c.8958C= (p.His2986=)
c.8613C= (p.His2871=)
c.4959C= (p.His1653=)
c.8853C= (p.His2951=)
c.8844C= (p.His2948=)
c.8859C= (p.His2953=)
c.3156C= (p.His1052=)
Xg.31444583G>TCA412655244DMDc.3828C>A (p.His1276Gln)
c.1602C>A (p.His534Gln)
n.2447C>A
n.2474C>A
c.837C>A (p.His279Gln)
c.8982C>A (p.His2994Gln)
c.4950C>A (p.His1650Gln)
n.2643C>A
c.795C>A (p.His265Gln)
c.2070C>A (p.His690Gln)
c.8970C>A (p.His2990Gln)
c.8967C>A (p.His2989Gln)
c.8979C>A (p.His2993Gln)
c.8958C>A (p.His2986Gln)
c.8613C>A (p.His2871Gln)
c.4959C>A (p.His1653Gln)
c.8853C>A (p.His2951Gln)
c.8844C>A (p.His2948Gln)
c.8859C>A (p.His2953Gln)
c.3156C>A (p.His1052Gln)
Xg.31444584T>ACA412655245DMDc.3827A>T (p.His1276Leu)
c.1601A>T (p.His534Leu)
n.2446A>T
n.2473A>T
c.836A>T (p.His279Leu)
c.8981A>T (p.His2994Leu)
c.4949A>T (p.His1650Leu)
n.2642A>T
c.794A>T (p.His265Leu)
c.2069A>T (p.His690Leu)
c.8969A>T (p.His2990Leu)
c.8966A>T (p.His2989Leu)
c.8978A>T (p.His2993Leu)
c.8957A>T (p.His2986Leu)
c.8612A>T (p.His2871Leu)
c.4958A>T (p.His1653Leu)
c.8852A>T (p.His2951Leu)
c.8843A>T (p.His2948Leu)
c.8858A>T (p.His2953Leu)
c.3155A>T (p.His1052Leu)
Xg.31444584T>CCA412655247DMDc.3827A>G (p.His1276Arg)
c.1601A>G (p.His534Arg)
n.2446A>G
n.2473A>G
c.836A>G (p.His279Arg)
c.8981A>G (p.His2994Arg)
c.4949A>G (p.His1650Arg)
n.2642A>G
c.794A>G (p.His265Arg)
c.2069A>G (p.His690Arg)
c.8969A>G (p.His2990Arg)
c.8966A>G (p.His2989Arg)
c.8978A>G (p.His2993Arg)
c.8957A>G (p.His2986Arg)
c.8612A>G (p.His2871Arg)
c.4958A>G (p.His1653Arg)
c.8852A>G (p.His2951Arg)
c.8843A>G (p.His2948Arg)
c.8858A>G (p.His2953Arg)
c.3155A>G (p.His1052Arg)
Xg.31444584T>GCA412655246DMDc.3827A>C (p.His1276Pro)
c.1601A>C (p.His534Pro)
n.2446A>C
n.2473A>C
c.836A>C (p.His279Pro)
c.8981A>C (p.His2994Pro)
c.4949A>C (p.His1650Pro)
n.2642A>C
c.794A>C (p.His265Pro)
c.2069A>C (p.His690Pro)
c.8969A>C (p.His2990Pro)
c.8966A>C (p.His2989Pro)
c.8978A>C (p.His2993Pro)
c.8957A>C (p.His2986Pro)
c.8612A>C (p.His2871Pro)
c.4958A>C (p.His1653Pro)
c.8852A>C (p.His2951Pro)
c.8843A>C (p.His2948Pro)
c.8858A>C (p.His2953Pro)
c.3155A>C (p.His1052Pro)
Xg.31444585G>ACA412655248DMDc.3826C>T (p.His1276Tyr)
c.1600C>T (p.His534Tyr)
n.2445C>T
n.2472C>T
c.835C>T (p.His279Tyr)
c.8980C>T (p.His2994Tyr)
c.4948C>T (p.His1650Tyr)
n.2641C>T
c.793C>T (p.His265Tyr)
c.2068C>T (p.His690Tyr)
c.8968C>T (p.His2990Tyr)
c.8965C>T (p.His2989Tyr)
c.8977C>T (p.His2993Tyr)
c.8956C>T (p.His2986Tyr)
c.8611C>T (p.His2871Tyr)
c.4957C>T (p.His1653Tyr)
c.8851C>T (p.His2951Tyr)
c.8842C>T (p.His2948Tyr)
c.8857C>T (p.His2953Tyr)
c.3154C>T (p.His1052Tyr)
Xg.31444585G>CCA412655249DMDc.3826C>G (p.His1276Asp)
c.1600C>G (p.His534Asp)
n.2445C>G
n.2472C>G
c.835C>G (p.His279Asp)
c.8980C>G (p.His2994Asp)
c.4948C>G (p.His1650Asp)
n.2641C>G
c.793C>G (p.His265Asp)
c.2068C>G (p.His690Asp)
c.8968C>G (p.His2990Asp)
c.8965C>G (p.His2989Asp)
c.8977C>G (p.His2993Asp)
c.8956C>G (p.His2986Asp)
c.8611C>G (p.His2871Asp)
c.4957C>G (p.His1653Asp)
c.8851C>G (p.His2951Asp)
c.8842C>G (p.His2948Asp)
c.8857C>G (p.His2953Asp)
c.3154C>G (p.His1052Asp)
Xg.31444585G>TCA412655250DMDc.3826C>A (p.His1276Asn)
c.1600C>A (p.His534Asn)
n.2445C>A
n.2472C>A
c.835C>A (p.His279Asn)
c.8980C>A (p.His2994Asn)
c.4948C>A (p.His1650Asn)
n.2641C>A
c.793C>A (p.His265Asn)
c.2068C>A (p.His690Asn)
c.8968C>A (p.His2990Asn)
c.8965C>A (p.His2989Asn)
c.8977C>A (p.His2993Asn)
c.8956C>A (p.His2986Asn)
c.8611C>A (p.His2871Asn)
c.4957C>A (p.His1653Asn)
c.8851C>A (p.His2951Asn)
c.8842C>A (p.His2948Asn)
c.8857C>A (p.His2953Asn)
c.3154C>A (p.His1052Asn)
Xg.31444586G>ACA515858282DMDc.3825C>T (p.Ser1275=)
c.1599C>T (p.Ser533=)
n.2444C>T
n.2471C>T
c.834C>T (p.Ser278=)
c.8979C>T (p.Ser2993=)
c.4947C>T (p.Ser1649=)
n.2640C>T
c.792C>T (p.Ser264=)
c.2067C>T (p.Ser689=)
c.8967C>T (p.Ser2989=)
c.8964C>T (p.Ser2988=)
c.8976C>T (p.Ser2992=)
c.8955C>T (p.Ser2985=)
c.8610C>T (p.Ser2870=)
c.4956C>T (p.Ser1652=)
c.8850C>T (p.Ser2950=)
c.8841C>T (p.Ser2947=)
c.8856C>T (p.Ser2952=)
c.3153C>T (p.Ser1051=)
Xg.31444586G>CCA412655251DMDc.3825C>G (p.Ser1275Arg)
c.1599C>G (p.Ser533Arg)
n.2444C>G
n.2471C>G
c.834C>G (p.Ser278Arg)
c.8979C>G (p.Ser2993Arg)
c.4947C>G (p.Ser1649Arg)
n.2640C>G
c.792C>G (p.Ser264Arg)
c.2067C>G (p.Ser689Arg)
c.8967C>G (p.Ser2989Arg)
c.8964C>G (p.Ser2988Arg)
c.8976C>G (p.Ser2992Arg)
c.8955C>G (p.Ser2985Arg)
c.8610C>G (p.Ser2870Arg)
c.4956C>G (p.Ser1652Arg)
c.8850C>G (p.Ser2950Arg)
c.8841C>G (p.Ser2947Arg)
c.8856C>G (p.Ser2952Arg)
c.3153C>G (p.Ser1051Arg)
Xg.31444586G>TCA412655252DMDc.3825C>A (p.Ser1275Arg)
c.1599C>A (p.Ser533Arg)
n.2444C>A
n.2471C>A
c.834C>A (p.Ser278Arg)
c.8979C>A (p.Ser2993Arg)
c.4947C>A (p.Ser1649Arg)
n.2640C>A
c.792C>A (p.Ser264Arg)
c.2067C>A (p.Ser689Arg)
c.8967C>A (p.Ser2989Arg)
c.8964C>A (p.Ser2988Arg)
c.8976C>A (p.Ser2992Arg)
c.8955C>A (p.Ser2985Arg)
c.8610C>A (p.Ser2870Arg)
c.4956C>A (p.Ser1652Arg)
c.8850C>A (p.Ser2950Arg)
c.8841C>A (p.Ser2947Arg)
c.8856C>A (p.Ser2952Arg)
c.3153C>A (p.Ser1051Arg)
Xg.31444587C>ACA412655253DMDc.3824G>T (p.Ser1275Ile)
c.1598G>T (p.Ser533Ile)
n.2443G>T
n.2470G>T
c.833G>T (p.Ser278Ile)
c.8978G>T (p.Ser2993Ile)
c.4946G>T (p.Ser1649Ile)
n.2639G>T
c.791G>T (p.Ser264Ile)
c.2066G>T (p.Ser689Ile)
c.8966G>T (p.Ser2989Ile)
c.8963G>T (p.Ser2988Ile)
c.8975G>T (p.Ser2992Ile)
c.8954G>T (p.Ser2985Ile)
c.8609G>T (p.Ser2870Ile)
c.4955G>T (p.Ser1652Ile)
c.8849G>T (p.Ser2950Ile)
c.8840G>T (p.Ser2947Ile)
c.8855G>T (p.Ser2952Ile)
c.3152G>T (p.Ser1051Ile)
Xg.31444587C>GCA412655254DMDc.3824G>C (p.Ser1275Thr)
c.1598G>C (p.Ser533Thr)
n.2443G>C
n.2470G>C
c.833G>C (p.Ser278Thr)
c.8978G>C (p.Ser2993Thr)
c.4946G>C (p.Ser1649Thr)
n.2639G>C
c.791G>C (p.Ser264Thr)
c.2066G>C (p.Ser689Thr)
c.8966G>C (p.Ser2989Thr)
c.8963G>C (p.Ser2988Thr)
c.8975G>C (p.Ser2992Thr)
c.8954G>C (p.Ser2985Thr)
c.8609G>C (p.Ser2870Thr)
c.4955G>C (p.Ser1652Thr)
c.8849G>C (p.Ser2950Thr)
c.8840G>C (p.Ser2947Thr)
c.8855G>C (p.Ser2952Thr)
c.3152G>C (p.Ser1051Thr)
Xg.31444587C>TCA412655255DMDc.3824G>A (p.Ser1275Asn)
c.1598G>A (p.Ser533Asn)
n.2443G>A
n.2470G>A
c.833G>A (p.Ser278Asn)
c.8978G>A (p.Ser2993Asn)
c.4946G>A (p.Ser1649Asn)
n.2639G>A
c.791G>A (p.Ser264Asn)
c.2066G>A (p.Ser689Asn)
c.8966G>A (p.Ser2989Asn)
c.8963G>A (p.Ser2988Asn)
c.8975G>A (p.Ser2992Asn)
c.8954G>A (p.Ser2985Asn)
c.8609G>A (p.Ser2870Asn)
c.4955G>A (p.Ser1652Asn)
c.8849G>A (p.Ser2950Asn)
c.8840G>A (p.Ser2947Asn)
c.8855G>A (p.Ser2952Asn)
c.3152G>A (p.Ser1051Asn)
 gnomAD v4
Xg.31444588T>ACA412655256DMDc.3823A>T (p.Ser1275Cys)
c.1597A>T (p.Ser533Cys)
n.2442A>T
n.2469A>T
c.832A>T (p.Ser278Cys)
c.8977A>T (p.Ser2993Cys)
c.4945A>T (p.Ser1649Cys)
n.2638A>T
c.790A>T (p.Ser264Cys)
c.2065A>T (p.Ser689Cys)
c.8965A>T (p.Ser2989Cys)
c.8962A>T (p.Ser2988Cys)
c.8974A>T (p.Ser2992Cys)
c.8953A>T (p.Ser2985Cys)
c.8608A>T (p.Ser2870Cys)
c.4954A>T (p.Ser1652Cys)
c.8848A>T (p.Ser2950Cys)
c.8839A>T (p.Ser2947Cys)
c.8854A>T (p.Ser2952Cys)
c.3151A>T (p.Ser1051Cys)
 gnomAD v4
Xg.31444588T>CCA412655257DMDc.3823A>G (p.Ser1275Gly)
c.1597A>G (p.Ser533Gly)
n.2442A>G
n.2469A>G
c.832A>G (p.Ser278Gly)
c.8977A>G (p.Ser2993Gly)
c.4945A>G (p.Ser1649Gly)
n.2638A>G
c.790A>G (p.Ser264Gly)
c.2065A>G (p.Ser689Gly)
c.8965A>G (p.Ser2989Gly)
c.8962A>G (p.Ser2988Gly)
c.8974A>G (p.Ser2992Gly)
c.8953A>G (p.Ser2985Gly)
c.8608A>G (p.Ser2870Gly)
c.4954A>G (p.Ser1652Gly)
c.8848A>G (p.Ser2950Gly)
c.8839A>G (p.Ser2947Gly)
c.8854A>G (p.Ser2952Gly)
c.3151A>G (p.Ser1051Gly)
Xg.31444588T>GCA412655258DMDc.3823A>C (p.Ser1275Arg)
c.1597A>C (p.Ser533Arg)
n.2442A>C
n.2469A>C
c.832A>C (p.Ser278Arg)
c.8977A>C (p.Ser2993Arg)
c.4945A>C (p.Ser1649Arg)
n.2638A>C
c.790A>C (p.Ser264Arg)
c.2065A>C (p.Ser689Arg)
c.8965A>C (p.Ser2989Arg)
c.8962A>C (p.Ser2988Arg)
c.8974A>C (p.Ser2992Arg)
c.8953A>C (p.Ser2985Arg)
c.8608A>C (p.Ser2870Arg)
c.4954A>C (p.Ser1652Arg)
c.8848A>C (p.Ser2950Arg)
c.8839A>C (p.Ser2947Arg)
c.8854A>C (p.Ser2952Arg)
c.3151A>C (p.Ser1051Arg)
Xg.31444589C>ACA515858284DMDc.3822G>T (p.Val1274=)
c.1596G>T (p.Val532=)
n.2441G>T
n.2468G>T
c.831G>T (p.Val277=)
c.8976G>T (p.Val2992=)
c.4944G>T (p.Val1648=)
n.2637G>T
c.789G>T (p.Val263=)
c.2064G>T (p.Val688=)
c.8964G>T (p.Val2988=)
c.8961G>T (p.Val2987=)
c.8973G>T (p.Val2991=)
c.8952G>T (p.Val2984=)
c.8607G>T (p.Val2869=)
c.4953G>T (p.Val1651=)
c.8847G>T (p.Val2949=)
c.8838G>T (p.Val2946=)
c.8853G>T (p.Val2951=)
c.3150G>T (p.Val1050=)
Xg.31444589C=CA2422434067DMDc.3822G= (p.Val1274=)
c.1596G= (p.Val532=)
n.2441G=
n.2468G=
c.831G= (p.Val277=)
c.8976G= (p.Val2992=)
c.4944G= (p.Val1648=)
n.2637G=
c.789G= (p.Val263=)
c.2064G= (p.Val688=)
c.8964G= (p.Val2988=)
c.8961G= (p.Val2987=)
c.8973G= (p.Val2991=)
c.8952G= (p.Val2984=)
c.8607G= (p.Val2869=)
c.4953G= (p.Val1651=)
c.8847G= (p.Val2949=)
c.8838G= (p.Val2946=)
c.8853G= (p.Val2951=)
c.3150G= (p.Val1050=)
Xg.31444589C>GCA515858285DMDc.3822G>C (p.Val1274=)
c.1596G>C (p.Val532=)
n.2441G>C
n.2468G>C
c.831G>C (p.Val277=)
c.8976G>C (p.Val2992=)
c.4944G>C (p.Val1648=)
n.2637G>C
c.789G>C (p.Val263=)
c.2064G>C (p.Val688=)
c.8964G>C (p.Val2988=)
c.8961G>C (p.Val2987=)
c.8973G>C (p.Val2991=)
c.8952G>C (p.Val2984=)
c.8607G>C (p.Val2869=)
c.4953G>C (p.Val1651=)
c.8847G>C (p.Val2949=)
c.8838G>C (p.Val2946=)
c.8853G>C (p.Val2951=)
c.3150G>C (p.Val1050=)
Xg.31444589C>TCA328429791DMDc.3822G>A (p.Val1274=)
c.1596G>A (p.Val532=)
n.2441G>A
n.2468G>A
c.831G>A (p.Val277=)
c.8976G>A (p.Val2992=)
c.4944G>A (p.Val1648=)
n.2637G>A
c.789G>A (p.Val263=)
c.2064G>A (p.Val688=)
c.8964G>A (p.Val2988=)
c.8961G>A (p.Val2987=)
c.8973G>A (p.Val2991=)
c.8952G>A (p.Val2984=)
c.8607G>A (p.Val2869=)
c.4953G>A (p.Val1651=)
c.8847G>A (p.Val2949=)
c.8838G>A (p.Val2946=)
c.8853G>A (p.Val2951=)
c.3150G>A (p.Val1050=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.31444590A>CCA412655261DMDc.3821T>G (p.Val1274Gly)
c.1595T>G (p.Val532Gly)
n.2440T>G
n.2467T>G
c.830T>G (p.Val277Gly)
c.8975T>G (p.Val2992Gly)
c.4943T>G (p.Val1648Gly)
n.2636T>G
c.788T>G (p.Val263Gly)
c.2063T>G (p.Val688Gly)
c.8963T>G (p.Val2988Gly)
c.8960T>G (p.Val2987Gly)
c.8972T>G (p.Val2991Gly)
c.8951T>G (p.Val2984Gly)
c.8606T>G (p.Val2869Gly)
c.4952T>G (p.Val1651Gly)
c.8846T>G (p.Val2949Gly)
c.8837T>G (p.Val2946Gly)
c.8852T>G (p.Val2951Gly)
c.3149T>G (p.Val1050Gly)
Xg.31444590A>GCA412655260DMDc.3821T>C (p.Val1274Ala)
c.1595T>C (p.Val532Ala)
n.2440T>C
n.2467T>C
c.830T>C (p.Val277Ala)
c.8975T>C (p.Val2992Ala)
c.4943T>C (p.Val1648Ala)
n.2636T>C
c.788T>C (p.Val263Ala)
c.2063T>C (p.Val688Ala)
c.8963T>C (p.Val2988Ala)
c.8960T>C (p.Val2987Ala)
c.8972T>C (p.Val2991Ala)
c.8951T>C (p.Val2984Ala)
c.8606T>C (p.Val2869Ala)
c.4952T>C (p.Val1651Ala)
c.8846T>C (p.Val2949Ala)
c.8837T>C (p.Val2946Ala)
c.8852T>C (p.Val2951Ala)
c.3149T>C (p.Val1050Ala)
Xg.31444590A>TCA412655259DMDc.3821T>A (p.Val1274Glu)
c.1595T>A (p.Val532Glu)
n.2440T>A
n.2467T>A
c.830T>A (p.Val277Glu)
c.8975T>A (p.Val2992Glu)
c.4943T>A (p.Val1648Glu)
n.2636T>A
c.788T>A (p.Val263Glu)
c.2063T>A (p.Val688Glu)
c.8963T>A (p.Val2988Glu)
c.8960T>A (p.Val2987Glu)
c.8972T>A (p.Val2991Glu)
c.8951T>A (p.Val2984Glu)
c.8606T>A (p.Val2869Glu)
c.4952T>A (p.Val1651Glu)
c.8846T>A (p.Val2949Glu)
c.8837T>A (p.Val2946Glu)
c.8852T>A (p.Val2951Glu)
c.3149T>A (p.Val1050Glu)
Xg.31444591C>ACA412655262DMDc.3820G>T (p.Val1274Leu)
c.1594G>T (p.Val532Leu)
n.2439G>T
n.2466G>T
c.829G>T (p.Val277Leu)
c.8974G>T (p.Val2992Leu)
c.4942G>T (p.Val1648Leu)
n.2635G>T
c.787G>T (p.Val263Leu)
c.2062G>T (p.Val688Leu)
c.8962G>T (p.Val2988Leu)
c.8959G>T (p.Val2987Leu)
c.8971G>T (p.Val2991Leu)
c.8950G>T (p.Val2984Leu)
c.8605G>T (p.Val2869Leu)
c.4951G>T (p.Val1651Leu)
c.8845G>T (p.Val2949Leu)
c.8836G>T (p.Val2946Leu)
c.8851G>T (p.Val2951Leu)
c.3148G>T (p.Val1050Leu)
Xg.31444591C=CA2422434068DMDc.3820G= (p.Val1274=)
c.1594G= (p.Val532=)
n.2439G=
n.2466G=
c.829G= (p.Val277=)
c.8974G= (p.Val2992=)
c.4942G= (p.Val1648=)
n.2635G=
c.787G= (p.Val263=)
c.2062G= (p.Val688=)
c.8962G= (p.Val2988=)
c.8959G= (p.Val2987=)
c.8971G= (p.Val2991=)
c.8950G= (p.Val2984=)
c.8605G= (p.Val2869=)
c.4951G= (p.Val1651=)
c.8845G= (p.Val2949=)
c.8836G= (p.Val2946=)
c.8851G= (p.Val2951=)
c.3148G= (p.Val1050=)
Xg.31444591C>GCA412655263DMDc.3820G>C (p.Val1274Leu)
c.1594G>C (p.Val532Leu)
n.2439G>C
n.2466G>C
c.829G>C (p.Val277Leu)
c.8974G>C (p.Val2992Leu)
c.4942G>C (p.Val1648Leu)
n.2635G>C
c.787G>C (p.Val263Leu)
c.2062G>C (p.Val688Leu)
c.8962G>C (p.Val2988Leu)
c.8959G>C (p.Val2987Leu)
c.8971G>C (p.Val2991Leu)
c.8950G>C (p.Val2984Leu)
c.8605G>C (p.Val2869Leu)
c.4951G>C (p.Val1651Leu)
c.8845G>C (p.Val2949Leu)
c.8836G>C (p.Val2946Leu)
c.8851G>C (p.Val2951Leu)
c.3148G>C (p.Val1050Leu)
Xg.31444591C>TCA308370DMDc.3820G>A (p.Val1274Met)
c.1594G>A (p.Val532Met)
n.2439G>A
n.2466G>A
c.829G>A (p.Val277Met)
c.8974G>A (p.Val2992Met)
c.4942G>A (p.Val1648Met)
n.2635G>A
c.787G>A (p.Val263Met)
c.2062G>A (p.Val688Met)
c.8962G>A (p.Val2988Met)
c.8959G>A (p.Val2987Met)
c.8971G>A (p.Val2991Met)
c.8950G>A (p.Val2984Met)
c.8605G>A (p.Val2869Met)
c.4951G>A (p.Val1651Met)
c.8845G>A (p.Val2949Met)
c.8836G>A (p.Val2946Met)
c.8851G>A (p.Val2951Met)
c.3148G>A (p.Val1050Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC

Number of alleles fetched