|
NM_001082971.2(DDC):c.49A>G (p.Met17Val)
|
rs6264
|
0.99398
|
|
NM_001082971.2(DDC):c.715-22C>T
|
rs11575375
|
0.36243
|
|
NM_001082971.2(DDC):c.436-16C>T
|
rs6950777
|
0.27949
|
|
NM_001082971.2(DDC):c.1041+8G>A
|
rs4490786
|
0.21464
|
|
NM_001082971.2(DDC):c.*341C>T
|
rs11575553
|
0.07793
|
|
NM_001082971.2(DDC):c.234C>T (p.Ala78=)
|
rs11575302
|
0.05323
|
|
NM_001082971.2(DDC):c.1385G>A (p.Arg462Gln)
|
rs11575542
|
0.05076
|
|
NM_001082971.2(DDC):c.*297T>C
|
rs11575551
|
0.03903
|
|
NM_001082971.2(DDC):c.649A>G (p.Met217Val)
|
rs6263
|
0.03032
|
|
NM_001082971.2(DDC):c.*314T>C
|
rs11575552
|
0.02306
|
|
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu)
|
rs6262
|
0.01372
|
|
NM_001082971.2(DDC):c.436-12T>C
|
rs144962948
|
0.00650
|
|
NM_001082971.2(DDC):c.183G>T (p.Glu61Asp)
|
rs11575292
|
0.00411
|
|
NM_001082971.2(DDC):c.96C>T (p.Asp32=)
|
rs11575290
|
0.00319
|
|
NM_001082971.2(DDC):c.717G>T (p.Met239Ile)
|
rs11575377
|
0.00230
|
|
NM_001082971.2(DDC):c.715A>T (p.Met239Leu)
|
rs11575376
|
0.00069
|
|
NM_001082971.2(DDC):c.1022-6C>T
|
rs193227256
|
0.00062
|
|
NM_001082971.2(DDC):c.435+6G>T
|
rs373041067
|
0.00046
|
|
NM_001082971.2(DDC):c.207G>A (p.Thr69=)
|
rs61731774
|
0.00041
|
|
NM_001082971.2(DDC):c.*36G>C
|
rs187404471
|
0.00039
|
|
NM_001082971.2(DDC):c.1242+11A>G
|
rs113510841
|
0.00026
|
|
NM_001082971.2(DDC):c.1361C>T (p.Thr454Met)
|
rs147562019
|
0.00025
|
|
NM_001082971.2(DDC):c.571-18C>G
|
rs199781526
|
0.00022
|
|
NM_001082971.2(DDC):c.132C>T (p.Ala44=)
|
rs369201549
|
0.00020
|
|
NM_001082971.2(DDC):c.807C>T (p.His269=)
|
rs138333052
|
0.00017
|
|
NM_001082971.2(DDC):c.808G>A (p.Val270Ile)
|
rs150447169
|
0.00017
|
|
NM_001082971.2(DDC):c.1435A>G (p.Arg479Gly)
|
rs200450773
|
0.00016
|
|
NM_001082971.2(DDC):c.854G>A (p.Arg285Gln)
|
rs573103547
|
0.00016
|
|
NM_001082971.2(DDC):c.366C>T (p.Leu122=)
|
rs377528325
|
0.00014
|
|
NM_001082971.2(DDC):c.-29+4264G>A
|
rs886062377
|
0.00013
|
|
NM_001082971.2(DDC):c.550G>C (p.Val184Leu)
|
rs139433641
|
0.00011
|
|
NM_001082971.2(DDC):c.1426C>T (p.Arg476Ter)
|
rs148472208
|
0.00010
|
|
NM_001082971.2(DDC):c.1181A>G (p.Gln394Arg)
|
rs200295408
|
0.00009
|
|
NM_001082971.2(DDC):c.1296A>T (p.Lys432Asn)
|
rs199872159
|
0.00009
|
|
NM_001082971.2(DDC):c.20G>A (p.Arg7Gln)
|
rs200792455
|
0.00009
|
|
NM_001082971.2(DDC):c.201+8T>C
|
rs757343696
|
0.00008
|
|
NM_001082971.2(DDC):c.316-7A>C
|
rs11575318
|
0.00008
|
|
NM_001082971.2(DDC):c.202-3C>T
|
rs199573720
|
0.00007
|
|
NM_001082971.2(DDC):c.120G>A (p.Pro40=)
|
rs373640169
|
0.00006
|
|
NM_001082971.2(DDC):c.121C>A (p.Leu41Met)
|
rs748932346
|
0.00006
|
|
NM_001082971.2(DDC):c.135T>C (p.Ala45=)
|
rs11575291
|
0.00006
|
|
NM_001082971.2(DDC):c.1412C>T (p.Ala471Val)
|
rs752911552
|
0.00006
|
|
NM_001082971.2(DDC):c.315+11G>A
|
rs753275419
|
0.00006
|
|
NM_001082971.2(DDC):c.565G>C (p.Asp189His)
|
rs539762148
|
0.00006
|
|
NM_001082971.2(DDC):c.816A>C (p.Ala272=)
|
rs767990522
|
0.00006
|
|
NM_001082971.2(DDC):c.900T>C (p.Asn300=)
|
rs766824418
|
0.00006
|
|
NM_001082971.2(DDC):c.1136G>A (p.Arg379His)
|
rs147937771
|
0.00005
|
|
NM_001082971.2(DDC):c.435+19G>C
|
rs575698722
|
0.00005
|
|
NM_001082971.2(DDC):c.687C>T (p.Asp229=)
|
rs760646534
|
0.00005
|
|
NM_001082971.2(DDC):c.714+4A>T
|
rs200362242
|
0.00005
|
|
NM_001082971.2(DDC):c.876+20T>C
|
rs1321999395
|
0.00005
|
|
NM_001082971.2(DDC):c.1044T>C (p.His348=)
|
rs527805112
|
0.00004
|
|
NM_001082971.2(DDC):c.119C>T (p.Pro40Leu)
|
rs778431076
|
0.00004
|
|
NM_001082971.2(DDC):c.1362G>A (p.Thr454=)
|
rs772812241
|
0.00004
|
|
NM_001082971.2(DDC):c.1392G>C (p.Trp464Cys)
|
rs372970018
|
0.00004
|
|
NM_001082971.2(DDC):c.174C>T (p.Asn58=)
|
rs200233157
|
0.00004
|
|
NM_001082971.2(DDC):c.178G>A (p.Val60Ile)
|
rs142925706
|
0.00004
|
|
NM_001082971.2(DDC):c.272C>T (p.Ala91Val)
|
rs137853211
|
0.00004
|
|
NM_001082971.2(DDC):c.286G>A (p.Gly96Arg)
|
rs1285477390
|
0.00004
|
|
NM_001082971.2(DDC):c.315+10C>T
|
rs369907099
|
0.00004
|
|
NM_001082971.2(DDC):c.315+14T>C
|
rs201015793
|
0.00004
|
|
NM_001082971.2(DDC):c.316-6C>T
|
rs377474761
|
0.00004
|
|
NM_001082971.2(DDC):c.771C>T (p.Val257=)
|
rs117436059
|
0.00004
|
|
NM_001082971.2(DDC):c.822C>T (p.Tyr274=)
|
rs746729797
|
0.00004
|
|
NM_001082971.2(DDC):c.968C>T (p.Thr323Met)
|
rs140562157
|
0.00004
|
|
NM_001082971.2(DDC):c.*116T>G
|
rs886062370
|
0.00003
|
|
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln)
|
rs201951824
|
0.00003
|
|
NM_001082971.2(DDC):c.1041+5G>A
|
rs1006854027
|
0.00003
|
|
NM_001082971.2(DDC):c.1190G>A (p.Arg397His)
|
rs144293557
|
0.00003
|
|
NM_001082971.2(DDC):c.1243-17T>C
|
rs770471152
|
0.00003
|
|
NM_001082971.2(DDC):c.1389C>G (p.Ala463=)
|
rs757662816
|
0.00003
|
|
NM_001082971.2(DDC):c.153C>T (p.Asp51=)
|
rs559913213
|
0.00003
|
|
NM_001082971.2(DDC):c.156G>A (p.Thr52=)
|
rs369020209
|
0.00003
|
|
NM_001082971.2(DDC):c.232G>T (p.Ala78Ser)
|
rs140276979
|
0.00003
|
|
NM_001082971.2(DDC):c.6C>T (p.Asn2=)
|
rs749246611
|
0.00003
|
|
NM_001082971.2(DDC):c.726C>T (p.Thr242=)
|
rs151222677
|
0.00003
|
|
NM_001082971.2(DDC):c.823G>A (p.Ala275Thr)
|
rs137853212
|
0.00003
|
|
NM_001082971.2(DDC):c.85G>A (p.Val29Ile)
|
rs780962952
|
0.00003
|
|
NM_001082971.2(DDC):c.876+15C>T
|
rs758371217
|
0.00003
|
|
NM_001082971.2(DDC):c.969G>A (p.Thr323=)
|
rs1463739427
|
0.00003
|
|
NM_001082971.2(DDC):c.1021+12G>C
|
rs761895984
|
0.00002
|
|
NM_001082971.2(DDC):c.1042-7A>G
|
rs972908643
|
0.00002
|
|
NM_001082971.2(DDC):c.1143T>C (p.His381=)
|
rs756891812
|
0.00002
|
|
NM_001082971.2(DDC):c.1167G>A (p.Glu389=)
|
rs1025795093
|
0.00002
|
|
NM_001082971.2(DDC):c.1243-20C>T
|
rs745796650
|
0.00002
|
|
NM_001082971.2(DDC):c.206C>T (p.Thr69Met)
|
rs777956037
|
0.00002
|
|
NM_001082971.2(DDC):c.216C>T (p.His72=)
|
rs752936791
|
0.00002
|
|
NM_001082971.2(DDC):c.231C>T (p.Phe77=)
|
rs751519679
|
0.00002
|
|
NM_001082971.2(DDC):c.260C>T (p.Pro87Leu)
|
rs746244631
|
0.00002
|
|
NM_001082971.2(DDC):c.261G>A (p.Pro87=)
|
rs200437940
|
0.00002
|
|
NM_001082971.2(DDC):c.265A>G (p.Met89Val)
|
rs886062376
|
0.00002
|
|
NM_001082971.2(DDC):c.424G>A (p.Gly142Arg)
|
rs757220196
|
0.00002
|
|
NM_001082971.2(DDC):c.446G>C (p.Ser149Thr)
|
rs971183744
|
0.00002
|
|
NM_001082971.2(DDC):c.476C>T (p.Ala159Val)
|
rs201828034
|
0.00002
|
|
NM_001082971.2(DDC):c.586G>A (p.Glu196Lys)
|
rs368618312
|
0.00002
|
|
NM_001082971.2(DDC):c.714+19G>A
|
rs368647422
|
0.00002
|
|
NM_001082971.2(DDC):c.714+8C>G
|
rs765510502
|
0.00002
|
|
NM_001082971.2(DDC):c.714+9G>A
|
rs757500557
|
0.00002
|
|
NM_001082971.2(DDC):c.739A>G (p.Thr247Ala)
|
rs754766575
|
0.00002
|
|
NM_001082971.2(DDC):c.7G>A (p.Ala3Thr)
|
rs766408460
|
0.00002
|
|
NM_001082971.2(DDC):c.*155C>T
|
rs886062369
|
0.00001
|
|
NM_001082971.2(DDC):c.*23C>A
|
rs560640944
|
0.00001
|
|
NM_001082971.2(DDC):c.-29+4222C>T
|
rs539605396
|
0.00001
|
|
NM_001082971.2(DDC):c.1009C>T (p.His337Tyr)
|
rs751531676
|
0.00001
|
|
NM_001082971.2(DDC):c.1041+6T>C
|
rs1218896783
|
0.00001
|
|
NM_001082971.2(DDC):c.105C>T (p.Pro35=)
|
rs751163340
|
0.00001
|
|
NM_001082971.2(DDC):c.1073G>A (p.Arg358His)
|
rs771317809
|
0.00001
|
|
NM_001082971.2(DDC):c.1106A>G (p.Tyr369Cys)
|
rs886062371
|
0.00001
|
|
NM_001082971.2(DDC):c.112C>T (p.Leu38=)
|
rs199586683
|
0.00001
|
|
NM_001082971.2(DDC):c.1132A>G (p.Ile378Val)
|
rs755858178
|
0.00001
|
|
NM_001082971.2(DDC):c.1135C>T (p.Arg379Cys)
|
rs201783949
|
0.00001
|
|
NM_001082971.2(DDC):c.1164T>C (p.Phe388=)
|
rs369370213
|
0.00001
|
|
NM_001082971.2(DDC):c.1177C>T (p.Arg393Cys)
|
rs375309190
|
0.00001
|
|
NM_001082971.2(DDC):c.1178G>A (p.Arg393His)
|
rs752108612
|
0.00001
|
|
NM_001082971.2(DDC):c.1218G>A (p.Leu406=)
|
rs746737558
|
0.00001
|
|
NM_001082971.2(DDC):c.1234C>T (p.Arg412Trp)
|
rs542063660
|
0.00001
|
|
NM_001082971.2(DDC):c.1235G>A (p.Arg412Gln)
|
rs756907276
|
0.00001
|
|
NM_001082971.2(DDC):c.1307T>C (p.Val436Ala)
|
rs753862164
|
0.00001
|
|
NM_001082971.2(DDC):c.1357C>T (p.Arg453Cys)
|
rs142110773
|
0.00001
|
|
NM_001082971.2(DDC):c.1384C>T (p.Arg462Trp)
|
rs746158022
|
0.00001
|
|
NM_001082971.2(DDC):c.1386G>A (p.Arg462=)
|
rs1025539290
|
0.00001
|
|
NM_001082971.2(DDC):c.1413G>A (p.Ala471=)
|
rs528137159
|
0.00001
|
|
NM_001082971.2(DDC):c.1417G>A (p.Asp473Asn)
|
rs759389542
|
0.00001
|
|
NM_001082971.2(DDC):c.1427G>A (p.Arg476Gln)
|
rs769418481
|
0.00001
|
|
NM_001082971.2(DDC):c.1437G>T (p.Arg479Ser)
|
rs2042321931
|
0.00001
|
|
NM_001082971.2(DDC):c.171C>A (p.Ile57=)
|
rs1270014886
|
0.00001
|
|
NM_001082971.2(DDC):c.200G>A (p.Gly67Glu)
|
rs147802058
|
0.00001
|
|
NM_001082971.2(DDC):c.201+1G>C
|
rs1450673278
|
0.00001
|
|
NM_001082971.2(DDC):c.221C>T (p.Pro74Leu)
|
rs1045841207
|
0.00001
|
|
NM_001082971.2(DDC):c.224A>T (p.Tyr75Phe)
|
rs754791023
|
0.00001
|
|
NM_001082971.2(DDC):c.268C>G (p.Leu90Val)
|
rs771493217
|
0.00001
|
|
NM_001082971.2(DDC):c.303C>T (p.Ile101=)
|
rs779672487
|
0.00001
|
|
NM_001082971.2(DDC):c.304G>A (p.Gly102Ser)
|
rs137853207
|
0.00001
|
|
NM_001082971.2(DDC):c.315+13A>T
|
rs983582853
|
0.00001
|
|
NM_001082971.2(DDC):c.317C>T (p.Ala106Val)
|
rs752272988
|
0.00001
|
|
NM_001082971.2(DDC):c.361T>C (p.Trp121Arg)
|
rs371117662
|
0.00001
|
|
NM_001082971.2(DDC):c.367G>A (p.Gly123Arg)
|
rs768596169
|
0.00001
|
|
NM_001082971.2(DDC):c.42G>A (p.Val14=)
|
rs1234378528
|
0.00001
|
|
NM_001082971.2(DDC):c.457C>T (p.Leu153=)
|
rs200657003
|
0.00001
|
|
NM_001082971.2(DDC):c.526C>A (p.Gln176Lys)
|
rs773004040
|
0.00001
|
|
NM_001082971.2(DDC):c.527A>G (p.Gln176Arg)
|
rs764207146
|
0.00001
|
|
NM_001082971.2(DDC):c.531C>T (p.Ala177=)
|
rs548757623
|
0.00001
|
|
NM_001082971.2(DDC):c.53C>T (p.Ala18Val)
|
rs1179044502
|
0.00001
|
|
NM_001082971.2(DDC):c.564C>T (p.Ser188=)
|
rs371336321
|
0.00001
|
|
NM_001082971.2(DDC):c.569A>T (p.Gln190Leu)
|
rs778157048
|
0.00001
|
|
NM_001082971.2(DDC):c.652C>A (p.Arg218Ser)
|
rs765007524
|
0.00001
|
|
NM_001082971.2(DDC):c.674C>T (p.Ala225Val)
|
rs141265809
|
0.00001
|
|
NM_001082971.2(DDC):c.73G>A (p.Glu25Lys)
|
rs756869400
|
0.00001
|
|
NM_001082971.2(DDC):c.758A>G (p.Asn253Ser)
|
rs761040177
|
0.00001
|
|
NM_001082971.2(DDC):c.772G>A (p.Gly258Ser)
|
rs766285406
|
0.00001
|
|
NM_001082971.2(DDC):c.79C>T (p.Arg27Cys)
|
rs752474261
|
0.00001
|
|
NM_001082971.2(DDC):c.804G>A (p.Leu268=)
|
rs764694910
|
0.00001
|
|
NM_001082971.2(DDC):c.82C>T (p.Gln28Ter)
|
rs755511752
|
0.00001
|
|
NM_001082971.2(DDC):c.853C>T (p.Arg285Trp)
|
rs886062372
|
0.00001
|
|
NM_001082971.2(DDC):c.876+11C>T
|
rs369667328
|
0.00001
|
|
NM_001082971.2(DDC):c.876G>A (p.Glu292=)
|
rs1237793828
|
0.00001
|
|
NM_001082971.2(DDC):c.923A>T (p.Asn308Ile)
|
rs375716771
|
0.00001
|
|
NM_001082971.2(DDC):c.945-15G>T
|
rs755244033
|
0.00001
|
|
NC_000007.13:g.(?_50530929)_(50535023_?)dup
|
|
|
|
NC_000007.13:g.(?_50563038)_(50563125_?)del
|
|
|
|
NC_000007.13:g.(?_50571671)_(50571777_?)del
|
|
|
|
NC_000007.13:g.(?_50605538)_(50611783_?)del
|
|
|
|
NM_000790.4(DDC):c.316del
|
rs1364054304
|
|
|
NM_001082971.2(DDC):c.*113C>T
|
rs2042178275
|
|
|
NM_001082971.2(DDC):c.*274G>A
|
rs2042175929
|
|
|
NM_001082971.2(DDC):c.-29+4233AG[3]
|
rs3837091
|
|
|
NM_001082971.2(DDC):c.-29+4263C>T
|
rs570617223
|
|
|
NM_001082971.2(DDC):c.1005C>T (p.His335=)
|
rs748632382
|
|
|
NM_001082971.2(DDC):c.1010A>G (p.His337Arg)
|
rs373966178
|
|
|
NM_001082971.2(DDC):c.1013_1016dup (p.Asp339fs)
|
|
|
|
NM_001082971.2(DDC):c.1021+12G>A
|
|
|
|
NM_001082971.2(DDC):c.1021+14C>T
|
|
|
|
NM_001082971.2(DDC):c.1021+7T>C
|
|
|
|
NM_001082971.2(DDC):c.1022-17_1022-16del
|
|
|
|
NM_001082971.2(DDC):c.1022-1G>A
|
|
|
|
NM_001082971.2(DDC):c.1022-7T>C
|
|
|
|
NM_001082971.2(DDC):c.1028T>C (p.Ile343Thr)
|
|
|
|
NM_001082971.2(DDC):c.1037A>G (p.Tyr346Cys)
|
rs1585151568
|
|
|
NM_001082971.2(DDC):c.1039C>T (p.Arg347Trp)
|
rs773990125
|
|
|
NM_001082971.2(DDC):c.1041+12A>T
|
rs2042651349
|
|
|
NM_001082971.2(DDC):c.1041+15C>T
|
|
|
|
NM_001082971.2(DDC):c.1041+1G>A
|
|
|
|
NM_001082971.2(DDC):c.1041+1G>C
|
rs1209062363
|
|
|
NM_001082971.2(DDC):c.1041+20G>A
|
|
|
|
NM_001082971.2(DDC):c.1041+3A>G
|
|
|
|
NM_001082971.2(DDC):c.1041+6_1041+9del
|
|
|
|
NM_001082971.2(DDC):c.1042-16T>A
|
rs762555334
|
|
|
NM_001082971.2(DDC):c.1042-16T>C
|
rs762555334
|
|
|
NM_001082971.2(DDC):c.1042-2A>G
|
rs1276093487
|
|
|
NM_001082971.2(DDC):c.1042-9T>C
|
|
|
|
NM_001082971.2(DDC):c.1042C>T (p.His348Tyr)
|
|
|
|
NM_001082971.2(DDC):c.1048C>G (p.Gln350Glu)
|
rs2153534357
|
|
|
NM_001082971.2(DDC):c.1055del (p.Pro352fs)
|
rs2042497215
|
|
|
NM_001082971.2(DDC):c.105C>G (p.Pro35=)
|
|
|
|
NM_001082971.2(DDC):c.1061G>C (p.Gly354Ala)
|
rs774532449
|
|
|
NM_001082971.2(DDC):c.1062C>A (p.Gly354=)
|
rs2042496890
|
|
|
NM_001082971.2(DDC):c.1067G>T (p.Arg356Ile)
|
|
|
|
NM_001082971.2(DDC):c.1072C>T (p.Arg358Cys)
|
|
|
|
NM_001082971.2(DDC):c.1074C>A (p.Arg358=)
|
|
|
|
NM_001082971.2(DDC):c.1085T>C (p.Met362Thr)
|
rs1017626453
|
|
|
NM_001082971.2(DDC):c.1107T>A (p.Tyr369Ter)
|
|
|
|
NM_001082971.2(DDC):c.1123C>T (p.Gln375Ter)
|
rs777681757
|
|
|
NM_001082971.2(DDC):c.1134C>T (p.Ile378=)
|
|
|
|
NM_001082971.2(DDC):c.1140+17T>G
|
|
|
|
NM_001082971.2(DDC):c.1141-15C>T
|
|
|
|
NM_001082971.2(DDC):c.1141-18dup
|
|
|
|
NM_001082971.2(DDC):c.1146C>A (p.Val382=)
|
|
|
|
NM_001082971.2(DDC):c.1155C>T (p.Ser385=)
|
|
|
|
NM_001082971.2(DDC):c.115C>A (p.Arg39=)
|
rs151088825
|
|
|
NM_001082971.2(DDC):c.115C>T (p.Arg39Trp)
|
rs151088825
|
|
|
NM_001082971.2(DDC):c.116G>A (p.Arg39Gln)
|
rs376647978
|
|
|
NM_001082971.2(DDC):c.116G>C (p.Arg39Pro)
|
rs376647978
|
|
|
NM_001082971.2(DDC):c.1177C>G (p.Arg393Gly)
|
|
|
|
NM_001082971.2(DDC):c.1179C>T (p.Arg393=)
|
|
|
|
NM_001082971.2(DDC):c.1185T>A (p.Asp395Glu)
|
|
|
|
NM_001082971.2(DDC):c.1185T>C (p.Asp395=)
|
|
|
|
NM_001082971.2(DDC):c.1189C>T (p.Arg397Cys)
|
|
|
|
NM_001082971.2(DDC):c.1202G>C (p.Cys401Ser)
|
|
|
|
NM_001082971.2(DDC):c.1206G>C (p.Val402=)
|
|
|
|
NM_001082971.2(DDC):c.1217T>A (p.Leu406Gln)
|
rs2153533796
|
|
|
NM_001082971.2(DDC):c.1228T>G (p.Cys410Gly)
|
rs2042419194
|
|
|
NM_001082971.2(DDC):c.1233del (p.Arg412fs)
|
rs1344017069
|
|
|
NM_001082971.2(DDC):c.1241dup (p.Ser416fs)
|
|
|
|
NM_001082971.2(DDC):c.1242+10C>T
|
rs1302258110
|
|
|
NM_001082971.2(DDC):c.1242+18C>T
|
|
|
|
NM_001082971.2(DDC):c.1242+20A>G
|
|
|
|
NM_001082971.2(DDC):c.1242+5G>C
|
|
|
|
NM_001082971.2(DDC):c.1242+9A>G
|
|
|
|
NM_001082971.2(DDC):c.1242G>A (p.Lys414=)
|
|
|
|
NM_001082971.2(DDC):c.1243-10A>G
|
|
|
|
NM_001082971.2(DDC):c.1243-4C>T
|
|
|
|
NM_001082971.2(DDC):c.1243G>T (p.Gly415Cys)
|
|
|
|
NM_001082971.2(DDC):c.1244G>A (p.Gly415Asp)
|
rs780538527
|
|
|
NM_001082971.2(DDC):c.1245T>C (p.Gly415=)
|
|
|
|
NM_001082971.2(DDC):c.1251C>T (p.Asn417=)
|
|
|
|
NM_001082971.2(DDC):c.1257G>A (p.Val419=)
|
|
|
|
NM_001082971.2(DDC):c.1264G>A (p.Ala422Thr)
|
|
|
|
NM_001082971.2(DDC):c.1265C>T (p.Ala422Val)
|
rs984449557
|
|
|
NM_001082971.2(DDC):c.1280T>G (p.Ile427Arg)
|
|
|
|
NM_001082971.2(DDC):c.1286G>A (p.Ser429Asn)
|
rs2153533017
|
|
|
NM_001082971.2(DDC):c.128C>G (p.Pro43Arg)
|
rs2044719409
|
|
|
NM_001082971.2(DDC):c.128del (p.Pro43fs)
|
|
|
|
NM_001082971.2(DDC):c.1297dup (p.Ile433fs)
|
rs760629324
|
|
|
NM_001082971.2(DDC):c.129T>C (p.Pro43=)
|
|
|
|
NM_001082971.2(DDC):c.1303_1317del (p.Val436_Leu440del)
|
rs2153533010
|
|
|
NM_001082971.2(DDC):c.1311A>G (p.Pro437=)
|
|
|
|
NM_001082971.2(DDC):c.1324G>T (p.Asp442Tyr)
|
rs2042326828
|
|
|
NM_001082971.2(DDC):c.1339C>A (p.Arg447Ser)
|
|
|
|
NM_001082971.2(DDC):c.1339C>T (p.Arg447Cys)
|
|
|
|
NM_001082971.2(DDC):c.133G>A (p.Ala45Thr)
|
|
|
|
NM_001082971.2(DDC):c.1340G>A (p.Arg447His)
|
|
|
|
NM_001082971.2(DDC):c.134C>T (p.Ala45Val)
|
rs2044718776
|
|
|
NM_001082971.2(DDC):c.1352G>T (p.Cys451Phe)
|
rs1554411234
|
|
|
NM_001082971.2(DDC):c.1358G>A (p.Arg453His)
|
rs770717871
|
|
|
NM_001082971.2(DDC):c.1365G>A (p.Val455=)
|
|
|
|
NM_001082971.2(DDC):c.1367A>T (p.Glu456Val)
|
rs1049290384
|
|
|
NM_001082971.2(DDC):c.1368A>G (p.Glu456=)
|
|
|
|
NM_001082971.2(DDC):c.1377T>C (p.His459=)
|
|
|
|
NM_001082971.2(DDC):c.1377T>G (p.His459Gln)
|
|
|
|
NM_001082971.2(DDC):c.1379T>G (p.Val460Gly)
|
|
|
|
NM_001082971.2(DDC):c.1384C>A (p.Arg462=)
|
|
|
|
NM_001082971.2(DDC):c.1385G>C (p.Arg462Pro)
|
|
|
|
NM_001082971.2(DDC):c.139C>A (p.Pro47Thr)
|
|
|
|
NM_001082971.2(DDC):c.140C>A (p.Pro47His)
|
|
|
|
NM_001082971.2(DDC):c.1410G>A (p.Leu470=)
|
rs2042323799
|
|
|
NM_001082971.2(DDC):c.1413G>T (p.Ala471=)
|
rs528137159
|
|
|
NM_001082971.2(DDC):c.1416C>T (p.Ala472=)
|
|
|
|
NM_001082971.2(DDC):c.1419C>T (p.Asp473=)
|
|
|
|
NM_001082971.2(DDC):c.1420G>A (p.Val474Met)
|
|
|
|
NM_001082971.2(DDC):c.1421T>G (p.Val474Gly)
|
rs2153532982
|
|
|
NM_001082971.2(DDC):c.1436G>A (p.Arg479Lys)
|
|
|
|
NM_001082971.2(DDC):c.144G>A (p.Gln48=)
|
|
|
|
NM_001082971.2(DDC):c.147G>A (p.Glu49=)
|
|
|
|
NM_001082971.2(DDC):c.151G>A (p.Asp51Asn)
|
rs2153550405
|
|
|
NM_001082971.2(DDC):c.165C>T (p.Asp55=)
|
|
|
|
NM_001082971.2(DDC):c.169A>G (p.Ile57Val)
|
rs2153550391
|
|
|
NM_001082971.2(DDC):c.175G>A (p.Asp59Asn)
|
rs931702374
|
|
|
NM_001082971.2(DDC):c.175G>C (p.Asp59His)
|
rs931702374
|
|
|
NM_001082971.2(DDC):c.177C>T (p.Asp59=)
|
|
|
|
NM_001082971.2(DDC):c.180T>C (p.Val60=)
|
rs2153550384
|
|
|
NM_001082971.2(DDC):c.187A>G (p.Ile63Val)
|
|
|
|
NM_001082971.2(DDC):c.187A>T (p.Ile63Leu)
|
rs769369623
|
|
|
NM_001082971.2(DDC):c.195G>A (p.Met65Ile)
|
|
|
|
NM_001082971.2(DDC):c.19C>T (p.Arg7Ter)
|
rs138828136
|
|
|
NM_001082971.2(DDC):c.201+11A>G
|
|
|
|
NM_001082971.2(DDC):c.201+4A>G
|
|
|
|
NM_001082971.2(DDC):c.201+5G>C
|
rs2044715580
|
|
|
NM_001082971.2(DDC):c.201+7G>T
|
rs1172420809
|
|
|
NM_001082971.2(DDC):c.201+8T>G
|
rs757343696
|
|
|
NM_001082971.2(DDC):c.202-10T>G
|
|
|
|
NM_001082971.2(DDC):c.202-18C>G
|
|
|
|
NM_001082971.2(DDC):c.202-5T>C
|
|
|
|
NM_001082971.2(DDC):c.202-8C>T
|
rs2153549160
|
|
|
NM_001082971.2(DDC):c.212G>C (p.Trp71Ser)
|
|
|
|
NM_001082971.2(DDC):c.212G>T (p.Trp71Leu)
|
rs1220708031
|
|
|
NM_001082971.2(DDC):c.220C>A (p.Pro74Thr)
|
|
|
|
NM_001082971.2(DDC):c.220C>G (p.Pro74Ala)
|
|
|
|
NM_001082971.2(DDC):c.231C>A (p.Phe77Leu)
|
rs751519679
|
|
|
NM_001082971.2(DDC):c.232G>A (p.Ala78Thr)
|
rs140276979
|
|
|
NM_001082971.2(DDC):c.238T>C (p.Phe80Leu)
|
|
|
|
NM_001082971.2(DDC):c.239T>G (p.Phe80Cys)
|
|
|
|
NM_001082971.2(DDC):c.242C>T (p.Pro81Leu)
|
rs935725316
|
|
|
NM_001082971.2(DDC):c.243C>A (p.Pro81=)
|
|
|
|
NM_001082971.2(DDC):c.251G>A (p.Ser84Asn)
|
rs2044566817
|
|
|
NM_001082971.2(DDC):c.254C>A (p.Ser85Ter)
|
|
|
|
NM_001082971.2(DDC):c.255G>A (p.Ser85=)
|
rs367959876
|
|
|
NM_001082971.2(DDC):c.255G>C (p.Ser85=)
|
|
|
|
NM_001082971.2(DDC):c.266T>C (p.Met89Thr)
|
|
|
|
NM_001082971.2(DDC):c.270_281dup (p.Ala91_Leu94dup)
|
rs2044565422
|
|
|
NM_001082971.2(DDC):c.273G>A (p.Ala91=)
|
|
|
|
NM_001082971.2(DDC):c.276C>T (p.Asp92=)
|
|
|
|
NM_001082971.2(DDC):c.285C>A (p.Cys95Ter)
|
rs748439275
|
|
|
NM_001082971.2(DDC):c.285C>T (p.Cys95=)
|
|
|
|
NM_001082971.2(DDC):c.288G>T (p.Gly96=)
|
|
|
|
NM_001082971.2(DDC):c.292A>G (p.Ile98Val)
|
|
|
|
NM_001082971.2(DDC):c.299G>C (p.Cys100Ser)
|
|
|
|
NM_001082971.2(DDC):c.300C>T (p.Cys100=)
|
|
|
|
NM_001082971.2(DDC):c.315+10C>G
|
|
|
|
NM_001082971.2(DDC):c.315+11G>C
|
|
|
|
NM_001082971.2(DDC):c.316-11C>T
|
|
|
|
NM_001082971.2(DDC):c.316-18T>C
|
rs2153548546
|
|
|
NM_001082971.2(DDC):c.316-4A>G
|
|
|
|
NM_001082971.2(DDC):c.316-5G>A
|
rs2044474558
|
|
|
NM_001082971.2(DDC):c.316-5G>C
|
rs2044474558
|
|
|
NM_001082971.2(DDC):c.316-8C>A
|
|
|
|
NM_001082971.2(DDC):c.316-8C>G
|
|
|
|
NM_001082971.2(DDC):c.316-8C>T
|
|
|
|
NM_001082971.2(DDC):c.318G>A (p.Ala106=)
|
|
|
|
NM_001082971.2(DDC):c.322A>C (p.Ser108Arg)
|
rs1364989731
|
|
|
NM_001082971.2(DDC):c.323G>A (p.Ser108Asn)
|
|
|
|
NM_001082971.2(DDC):c.326C>T (p.Pro109Leu)
|
rs2153548527
|
|
|
NM_001082971.2(DDC):c.331T>C (p.Cys111Arg)
|
|
|
|
NM_001082971.2(DDC):c.351G>C (p.Val117=)
|
|
|
|
NM_001082971.2(DDC):c.362G>A (p.Trp121Ter)
|
|
|
|
NM_001082971.2(DDC):c.367G>C (p.Gly123Arg)
|
|
|
|
NM_001082971.2(DDC):c.375G>A (p.Met125Ile)
|
|
|
|
NM_001082971.2(DDC):c.379G>A (p.Glu127Lys)
|
rs2153548503
|
|
|
NM_001082971.2(DDC):c.388A>C (p.Lys130Gln)
|
|
|
|
NM_001082971.2(DDC):c.390G>A (p.Lys130=)
|
rs2153548501
|
|
|
NM_001082971.2(DDC):c.391G>T (p.Ala131Ser)
|
rs2044471850
|
|
|
NM_001082971.2(DDC):c.393A>G (p.Ala131=)
|
|
|
|
NM_001082971.2(DDC):c.39G>A (p.Met13Ile)
|
rs2044724081
|
|
|
NM_001082971.2(DDC):c.410C>A (p.Ala137Asp)
|
rs2153548496
|
|
|
NM_001082971.2(DDC):c.412G>A (p.Gly138Arg)
|
rs886062375
|
|
|
NM_001082971.2(DDC):c.418G>A (p.Gly140Arg)
|
rs2153548491
|
|
|
NM_001082971.2(DDC):c.418G>C (p.Gly140Arg)
|
rs2153548491
|
|
|
NM_001082971.2(DDC):c.419G>A (p.Gly140Glu)
|
rs866336739
|
|
|
NM_001082971.2(DDC):c.428T>C (p.Val143Ala)
|
|
|
|
NM_001082971.2(DDC):c.429G>A (p.Val143=)
|
|
|
|
NM_001082971.2(DDC):c.435+15G>A
|
|
|
|
NM_001082971.2(DDC):c.435+5G>T
|
rs749195794
|
|
|
NM_001082971.2(DDC):c.436-17C>A
|
|
|
|
NM_001082971.2(DDC):c.436-18A>G
|
rs2153545989
|
|
|
NM_001082971.2(DDC):c.436-6A>G
|
rs770694855
|
|
|
NM_001082971.2(DDC):c.439A>C (p.Ser147Arg)
|
rs137853210
|
|
|
NM_001082971.2(DDC):c.440G>T (p.Ser147Ile)
|
rs1585237892
|
|
|
NM_001082971.2(DDC):c.455C>A (p.Thr152Asn)
|
rs571159150
|
|
|
NM_001082971.2(DDC):c.456C>T (p.Thr152=)
|
|
|
|
NM_001082971.2(DDC):c.459G>A (p.Leu153=)
|
|
|
|
NM_001082971.2(DDC):c.459G>C (p.Leu153=)
|
rs780705506
|
|
|
NM_001082971.2(DDC):c.463G>T (p.Ala155Ser)
|
rs754716883
|
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NM_001082971.2(DDC):c.469C>T (p.Leu157=)
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|
NM_001082971.2(DDC):c.478C>T (p.Arg160Trp)
|
rs886062374
|
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NM_001082971.2(DDC):c.479G>A (p.Arg160Gln)
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NM_001082971.2(DDC):c.480del (p.Thr161fs)
|
rs2044130662
|
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NM_001082971.2(DDC):c.483C>A (p.Thr161=)
|
rs2153545967
|
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NM_001082971.2(DDC):c.485A>C (p.Lys162Thr)
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NM_001082971.2(DDC):c.486A>C (p.Lys162Asn)
|
rs764518800
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NM_001082971.2(DDC):c.48C>T (p.Tyr16=)
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NM_001082971.2(DDC):c.48_49delinsAG (p.Tyr16_Met17delinsTer)
|
rs2153550461
|
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NM_001082971.2(DDC):c.494A>G (p.His165Arg)
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NM_001082971.2(DDC):c.496C>T (p.Arg166Trp)
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NM_001082971.2(DDC):c.497G>A (p.Arg166Gln)
|
rs767557648
|
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NM_001082971.2(DDC):c.49= (p.Met17=)
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NM_001082971.2(DDC):c.507A>G (p.Ala169=)
|
rs2153545951
|
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NM_001082971.2(DDC):c.510G>A (p.Ala170=)
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NM_001082971.2(DDC):c.526C>G (p.Gln176Glu)
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NM_001082971.2(DDC):c.526C>T (p.Gln176Ter)
|
rs773004040
|
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NM_001082971.2(DDC):c.531C>G (p.Ala177=)
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NM_001082971.2(DDC):c.533C>A (p.Ala178Asp)
|
rs202191889
|
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NM_001082971.2(DDC):c.535A>C (p.Ile179Leu)
|
rs886062373
|
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NM_001082971.2(DDC):c.538A>G (p.Met180Val)
|
rs2153545936
|
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NM_001082971.2(DDC):c.553G>A (p.Ala185Thr)
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NM_001082971.2(DDC):c.561A>G (p.Ser187=)
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NM_001082971.2(DDC):c.564_568dup (p.Gln190fs)
|
rs2044127544
|
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NM_001082971.2(DDC):c.568C>T (p.Gln190Ter)
|
rs2153545926
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NM_001082971.2(DDC):c.570+18G>T
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NM_001082971.2(DDC):c.570+18dup
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NM_001082971.2(DDC):c.570+5G>C
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NM_001082971.2(DDC):c.571-19T>G
|
rs1563029656
|
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NM_001082971.2(DDC):c.571-2A>G
|
rs2044098060
|
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|
NM_001082971.2(DDC):c.571-3C>G
|
rs779659084
|
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NM_001082971.2(DDC):c.571-3C>T
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NM_001082971.2(DDC):c.574C>T (p.His192Tyr)
|
rs2153545672
|
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NM_001082971.2(DDC):c.587A>G (p.Glu196Gly)
|
rs2153545667
|
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NM_001082971.2(DDC):c.600A>G (p.Leu200=)
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NM_001082971.2(DDC):c.612G>T (p.Val204=)
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NM_001082971.2(DDC):c.615A>G (p.Lys205=)
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|
NM_001082971.2(DDC):c.61A>G (p.Met21Val)
|
rs951039438
|
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NM_001082971.2(DDC):c.623C>A (p.Ala208Asp)
|
rs1166528896
|
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NM_001082971.2(DDC):c.627C>A (p.Ile209=)
|
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NM_001082971.2(DDC):c.630C>G (p.Pro210=)
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NM_001082971.2(DDC):c.630C>T (p.Pro210=)
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|
NM_001082971.2(DDC):c.645C>T (p.Phe215=)
|
rs766408554
|
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NM_001082971.2(DDC):c.647C>T (p.Ala216Val)
|
rs2044095507
|
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NM_001082971.2(DDC):c.652C>T (p.Arg218Cys)
|
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|
|
NM_001082971.2(DDC):c.657G>A (p.Ala219=)
|
rs1262172516
|
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NM_001082971.2(DDC):c.665T>C (p.Leu222Pro)
|
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|
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NM_001082971.2(DDC):c.666G>T (p.Leu222=)
|
rs761672337
|
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NM_001082971.2(DDC):c.672A>G (p.Glu224=)
|
rs1585235665
|
|
|
NM_001082971.2(DDC):c.682A>G (p.Arg228Gly)
|
|
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|
NM_001082971.2(DDC):c.684A>G (p.Arg228=)
|
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|
|
NM_001082971.2(DDC):c.685G>C (p.Asp229His)
|
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NM_001082971.2(DDC):c.68G>A (p.Gly23Asp)
|
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|
|
NM_001082971.2(DDC):c.68G>T (p.Gly23Val)
|
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|
NM_001082971.2(DDC):c.693G>A (p.Ala231=)
|
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|
NM_001082971.2(DDC):c.693G>T (p.Ala231=)
|
rs138287031
|
|
|
NM_001082971.2(DDC):c.697G>A (p.Gly233Ser)
|
|
|
|
NM_001082971.2(DDC):c.699C>A (p.Gly233=)
|
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|
NM_001082971.2(DDC):c.700C>T (p.Leu234=)
|
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|
NM_001082971.2(DDC):c.702G>C (p.Leu234=)
|
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|
NM_001082971.2(DDC):c.714+14C>T
|
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|
NM_001082971.2(DDC):c.714+17T>C
|
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|
|
NM_001082971.2(DDC):c.714+18T>A
|
rs2153545602
|
|
|
NM_001082971.2(DDC):c.714+4A>G
|
rs200362242
|
|
|
NM_001082971.2(DDC):c.714+8C>T
|
rs765510502
|
|
|
NM_001082971.2(DDC):c.715-12T>C
|
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|
NM_001082971.2(DDC):c.715-3T>C
|
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|
NM_001082971.2(DDC):c.715-7C>T
|
rs2043327056
|
|
|
NM_001082971.2(DDC):c.718G>T (p.Val240Phe)
|
rs2153540570
|
|
|
NM_001082971.2(DDC):c.720T>C (p.Val240=)
|
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|
|
NM_001082971.2(DDC):c.721G>A (p.Ala241Thr)
|
rs2153540569
|
|
|
NM_001082971.2(DDC):c.734C>T (p.Thr245Ile)
|
|
|
|
NM_001082971.2(DDC):c.741A>G (p.Thr247=)
|
rs2153540565
|
|
|
NM_001082971.2(DDC):c.749C>T (p.Ser250Phe)
|
rs137853208
|
|
|
NM_001082971.2(DDC):c.763T>G (p.Leu255Val)
|
|
|
|
NM_001082971.2(DDC):c.764T>A (p.Leu255Ter)
|
|
|
|
NM_001082971.2(DDC):c.776C>T (p.Pro259Leu)
|
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|
|
NM_001082971.2(DDC):c.781+10C>G
|
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|
|
NM_001082971.2(DDC):c.781+10C>T
|
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|
|
NM_001082971.2(DDC):c.781+11G>A
|
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NM_001082971.2(DDC):c.781+8T>A
|
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|
NM_001082971.2(DDC):c.781+9C>A
|
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|
NM_001082971.2(DDC):c.781+9C>T
|
|
|
|
NM_001082971.2(DDC):c.782-2A>T
|
|
|
|
NM_001082971.2(DDC):c.782-6C>T
|
rs2153539686
|
|
|
NM_001082971.2(DDC):c.789G>A (p.Lys263=)
|
|
|
|
NM_001082971.2(DDC):c.792A>G (p.Glu264=)
|
|
|
|
NM_001082971.2(DDC):c.793G>A (p.Asp265Asn)
|
|
|
|
NM_001082971.2(DDC):c.801G>A (p.Trp267Ter)
|
|
|
|
NM_001082971.2(DDC):c.80G>A (p.Arg27His)
|
rs781573378
|
|
|
NM_001082971.2(DDC):c.819C>T (p.Ala273=)
|
|
|
|
NM_001082971.2(DDC):c.826G>A (p.Gly276Ser)
|
rs2043193191
|
|
|
NM_001082971.2(DDC):c.834A>C (p.Ala278=)
|
|
|
|
NM_001082971.2(DDC):c.852C>T (p.Phe284=)
|
|
|
|
NM_001082971.2(DDC):c.855G>A (p.Arg285=)
|
rs2043191670
|
|
|
NM_001082971.2(DDC):c.858C>G (p.His286Gln)
|
|
|
|
NM_001082971.2(DDC):c.858C>T (p.His286=)
|
|
|
|
NM_001082971.2(DDC):c.867_871TGGAG[1] (p.Glu292fs)
|
|
|
|
NM_001082971.2(DDC):c.876+16G>A
|
|
|
|
NM_001082971.2(DDC):c.876+1G>T
|
|
|
|
NM_001082971.2(DDC):c.876+2T>G
|
rs915727399
|
|
|
NM_001082971.2(DDC):c.876+8C>T
|
|
|
|
NM_001082971.2(DDC):c.877-10T>G
|
rs2153538984
|
|
|
NM_001082971.2(DDC):c.877-12G>T
|
|
|
|
NM_001082971.2(DDC):c.877-13T>C
|
|
|
|
NM_001082971.2(DDC):c.877-15C>T
|
rs1052574079
|
|
|
NM_001082971.2(DDC):c.87C>G (p.Val29=)
|
|
|
|
NM_001082971.2(DDC):c.884A>G (p.Asp295Gly)
|
rs914115218
|
|
|
NM_001082971.2(DDC):c.893A>G (p.Asn298Ser)
|
|
|
|
NM_001082971.2(DDC):c.896T>C (p.Phe299Ser)
|
rs2153538978
|
|
|
NM_001082971.2(DDC):c.903C>T (p.Pro301=)
|
|
|
|
NM_001082971.2(DDC):c.913C>T (p.Leu305=)
|
|
|
|
NM_001082971.2(DDC):c.916T>G (p.Leu306Val)
|
rs1353941471
|
|
|
NM_001082971.2(DDC):c.925T>C (p.Phe309Leu)
|
rs137853209
|
|
|
NM_001082971.2(DDC):c.939C>T (p.Ala313=)
|
|
|
|
NM_001082971.2(DDC):c.944+18C>T
|
|
|
|
NM_001082971.2(DDC):c.944+19A>C
|
rs2153538960
|
|
|
NM_001082971.2(DDC):c.945-13T>A
|
rs751797399
|
|
|
NM_001082971.2(DDC):c.945-13T>C
|
|
|
|
NM_001082971.2(DDC):c.945-14T>C
|
rs2042728905
|
|
|
NM_001082971.2(DDC):c.945-1G>C
|
rs2042728719
|
|
|
NM_001082971.2(DDC):c.945-20C>G
|
|
|
|
NM_001082971.2(DDC):c.945-23T>G
|
rs11575457
|
|
|
NM_001082971.2(DDC):c.94G>T (p.Asp32Tyr)
|
|
|
|
NM_001082971.2(DDC):c.966A>G (p.Leu322=)
|
|
|
|
NM_001082971.2(DDC):c.988C>A (p.Pro330Thr)
|
rs1316356550
|
|
|
NM_001082971.2(DDC):c.995A>G (p.Tyr332Cys)
|
rs2153536214
|
|
|
NM_001242889.2(DDC):c.435+8518_435+8519del
|
|
|