NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)
|
rs104894077
|
0.00015
|
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)
|
rs121908114
|
0.00015
|
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
|
rs104894080
|
0.00004
|
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg)
|
rs775622226
|
0.00004
|
NM_018972.4(GDAP1):c.311-1G>A
|
rs1370011538
|
0.00001
|
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr)
|
rs936681187
|
0.00001
|
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu)
|
rs538412810
|
0.00001
|
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter)
|
rs770501034
|
0.00001
|
NC_000008.10:g.(?_75272366)_(75272551_?)del
|
|
|
NM_018972.4(GDAP1):c.118-1G>A
|
|
|
NM_018972.4(GDAP1):c.157G>T (p.Glu53Ter)
|
rs746609932
|
|
NM_018972.4(GDAP1):c.169A>C (p.Ser57Arg)
|
rs863224774
|
|
NM_018972.4(GDAP1):c.193G>A (p.Glu65Lys)
|
rs1808862287
|
|
NM_018972.4(GDAP1):c.194A>G (p.Glu65Gly)
|
rs2131496131
|
|
NM_018972.4(GDAP1):c.196C>T (p.Pro66Ser)
|
rs773136934
|
|
NM_018972.4(GDAP1):c.246_256del (p.Gly83fs)
|
|
|
NM_018972.4(GDAP1):c.272_274delinsTTT (p.Thr91_Gln92delinsIleTer)
|
rs1808869772
|
|
NM_018972.4(GDAP1):c.287A>G (p.Tyr96Cys)
|
rs1586795440
|
|
NM_018972.4(GDAP1):c.308A>T (p.Asp103Val)
|
rs1064793135
|
|
NM_018972.4(GDAP1):c.311-1790_408del
|
|
|
NM_018972.4(GDAP1):c.359G>T (p.Arg120Leu)
|
rs1174933176
|
|
NM_018972.4(GDAP1):c.368A>G (p.His123Arg)
|
rs397515442
|
|
NM_018972.4(GDAP1):c.372C>G (p.Tyr124Ter)
|
rs786205590
|
|
NM_018972.4(GDAP1):c.393G>C (p.Leu131Phe)
|
rs1586803187
|
|
NM_018972.4(GDAP1):c.431C>T (p.Pro144Leu)
|
rs786205591
|
|
NM_018972.4(GDAP1):c.445G>C (p.Asp149His)
|
rs1443963090
|
|
NM_018972.4(GDAP1):c.457C>T (p.Pro153Ser)
|
rs2131512957
|
|
NM_018972.4(GDAP1):c.466G>T (p.Ala156Ser)
|
rs1809302381
|
|
NM_018972.4(GDAP1):c.482G>A (p.Arg161His)
|
rs104894076
|
|
NM_018972.4(GDAP1):c.485-2del
|
|
|
NM_018972.4(GDAP1):c.533A>G (p.Asn178Ser)
|
rs1586804849
|
|
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter)
|
rs1554547986
|
|
NM_018972.4(GDAP1):c.653A>G (p.Gln218Arg)
|
rs556827873
|
|
NM_018972.4(GDAP1):c.674GAA[1] (p.Arg226del)
|
rs1586806238
|
|
NM_018972.4(GDAP1):c.694+1G>A
|
rs1183978180
|
|
NM_018972.4(GDAP1):c.716T>C (p.Leu239Pro)
|
|
|
NM_018972.4(GDAP1):c.720C>A (p.Cys240Ter)
|
|
|
NM_018972.4(GDAP1):c.737T>G (p.Leu246Arg)
|
|
|
NM_018972.4(GDAP1):c.760dup (p.Thr254fs)
|
|
|
NM_018972.4(GDAP1):c.774del (p.Lys259fs)
|
rs2131521557
|
|
NM_018972.4(GDAP1):c.786del (p.Phe263fs)
|
rs1060500978
|
|
NM_018972.4(GDAP1):c.802_803del (p.Trp268fs)
|
rs765346218
|
|
NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly)
|
rs150989205
|
|
NM_018972.4(GDAP1):c.818G>A (p.Arg273Gln)
|
rs879254192
|
|
NM_018972.4(GDAP1):c.825del (p.Leu276fs)
|
rs2131521760
|
|
NM_018972.4(GDAP1):c.917C>T (p.Pro306Leu)
|
rs1586807529
|
|
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp)
|
rs397515432
|
|