NM_001363.5(DKC1):c.369G>T (p.Thr123=)
|
rs2728532
|
0.99384
|
NM_001363.5(DKC1):c.*6G>A
|
rs1800533
|
0.14655
|
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg)
|
rs146700772
|
0.00028
|
NM_001363.5(DKC1):c.1075G>A (p.Asp359Asn)
|
rs199422249
|
0.00001
|
NM_001363.5(DKC1):c.1318G>A (p.Glu440Lys)
|
rs782193188
|
0.00001
|
NC_000023.11:g.(154776372_154776374)_(154778317_154778319)del
|
|
|
NM_001363.5(DKC1):c.1049T>C (p.Met350Thr)
|
rs121912300
|
|
NM_001363.5(DKC1):c.1050G>A (p.Met350Ile)
|
rs121912298
|
|
NM_001363.5(DKC1):c.1054A>G (p.Thr352Ala)
|
rs1114167422
|
|
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val)
|
rs121912288
|
|
NM_001363.5(DKC1):c.1069A>G (p.Thr357Ala)
|
rs137854492
|
|
NM_001363.5(DKC1):c.106T>G (p.Phe36Val)
|
rs121912293
|
|
NM_001363.5(DKC1):c.109_111del (p.Leu37del)
|
rs137854489
|
|
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln)
|
rs1057520719
|
|
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr)
|
rs28936072
|
|
NM_001363.5(DKC1):c.114C>G (p.Ile38Met)
|
|
|
NM_001363.5(DKC1):c.1150C>T (p.Pro384Ser)
|
rs199422250
|
|
NM_001363.5(DKC1):c.1151C>T (p.Pro384Leu)
|
rs199422251
|
|
NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr)
|
rs199422252
|
|
NM_001363.5(DKC1):c.115A>G (p.Lys39Glu)
|
rs121912296
|
|
NM_001363.5(DKC1):c.1193T>C (p.Leu398Pro)
|
rs199422253
|
|
NM_001363.5(DKC1):c.1195G>C (p.Asp399His)
|
rs2071871731
|
|
NM_001363.5(DKC1):c.119C>G (p.Pro40Arg)
|
rs121912292
|
|
NM_001363.5(DKC1):c.1204G>A (p.Gly402Arg)
|
rs121912299
|
|
NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu)
|
rs121912295
|
|
NM_001363.5(DKC1):c.1214C>T (p.Thr405Ile)
|
|
|
NM_001363.5(DKC1):c.121G>A (p.Glu41Lys)
|
rs121912302
|
|
NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile)
|
rs199422254
|
|
NM_001363.5(DKC1):c.1225C>T (p.Pro409Ser)
|
rs2148516431
|
|
NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu)
|
rs121912289
|
|
NM_001363.5(DKC1):c.1240C>G (p.Gln414Glu)
|
|
|
NM_001363.5(DKC1):c.1255T>A (p.Tyr419Asn)
|
rs1557265435
|
|
NM_001363.5(DKC1):c.1259+1G>A
|
rs1569558616
|
|
NM_001363.5(DKC1):c.127A>G (p.Lys43Glu)
|
rs199422243
|
|
NM_001363.5(DKC1):c.133G>A (p.Ala45Thr)
|
rs2071733846
|
|
NM_001363.5(DKC1):c.1429AAG[1] (p.Lys478del)
|
rs2148517599
|
|
NM_001363.5(DKC1):c.146C>T (p.Thr49Met)
|
rs121912304
|
|
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del)
|
rs782576893
|
|
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup)
|
rs782576893
|
|
NM_001363.5(DKC1):c.16+592C>G
|
rs1603429348
|
|
NM_001363.5(DKC1):c.166_167delinsTC (p.Leu56Ser)
|
rs121912287
|
|
NM_001363.5(DKC1):c.194G>C (p.Arg65Thr)
|
rs121912301
|
|
NM_001363.5(DKC1):c.196A>G (p.Thr66Ala)
|
rs121912297
|
|
NM_001363.5(DKC1):c.200C>T (p.Thr67Ile)
|
rs199422244
|
|
NM_001363.5(DKC1):c.203A>G (p.His68Arg)
|
rs1557264102
|
|
NM_001363.5(DKC1):c.204C>A (p.His68Gln)
|
rs199422245
|
|
NM_001363.5(DKC1):c.204C>G (p.His68Gln)
|
rs199422245
|
|
NM_001363.5(DKC1):c.214C>T (p.Leu72Phe)
|
rs121912306
|
|
NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr)
|
rs121912294
|
|
NM_001363.5(DKC1):c.29C>T (p.Pro10Leu)
|
rs199422242
|
|
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly)
|
rs121912305
|
|
NM_001363.5(DKC1):c.42GAA[1] (p.Lys17del)
|
rs782201995
|
|
NM_001363.5(DKC1):c.472C>T (p.Arg158Trp)
|
rs199422246
|
|
NM_001363.5(DKC1):c.487A>C (p.Ile163Leu)
|
rs782159247
|
|
NM_001363.5(DKC1):c.559A>C (p.Ile187Leu)
|
|
|
NM_001363.5(DKC1):c.5C>T (p.Ala2Val)
|
rs121912303
|
|
NM_001363.5(DKC1):c.911G>A (p.Ser304Asn)
|
rs199422247
|
|
NM_001363.5(DKC1):c.91C>A (p.Gln31Lys)
|
rs137854491
|
|
NM_001363.5(DKC1):c.91C>G (p.Gln31Glu)
|
rs137854491
|
|
NM_001363.5(DKC1):c.941A>G (p.Lys314Arg)
|
rs199422248
|
|
NM_001363.5(DKC1):c.949C>G (p.Leu317Val)
|
rs121912290
|
|
NM_001363.5(DKC1):c.949C>T (p.Leu317Phe)
|
rs121912290
|
|
NM_001363.5(DKC1):c.961C>G (p.Leu321Val)
|
rs2728726
|
|
NM_001363.5(DKC1):c.964C>T (p.Arg322Ter)
|
|
|
NM_001363.5(DKC1):c.965G>A (p.Arg322Gln)
|
rs121912291
|
|