NM_000187.4(HGD):c.342+25C>T
|
rs2551607
|
0.82473
|
NM_000187.4(HGD):c.240A>T (p.Gln80His)
|
rs2255543
|
0.75354
|
NM_000187.4(HGD):c.879+18A>G
|
rs1800700
|
0.03754
|
NM_000187.4(HGD):c.1191A>C (p.Ala397=)
|
rs137923025
|
0.02463
|
NM_000187.4(HGD):c.372C>T (p.Asp124=)
|
rs140977117
|
0.02164
|
NM_000187.4(HGD):c.1221G>A (p.Ala407=)
|
rs146206905
|
0.01639
|
NM_000187.4(HGD):c.142G>T (p.Ala48Ser)
|
rs138846036
|
0.01021
|
NM_000187.4(HGD):c.650-85A>G
|
rs2075504
|
0.00999
|
NM_000187.4(HGD):c.1179T>C (p.Asp393=)
|
rs146482816
|
0.00886
|
NM_000187.4(HGD):c.283-4C>T
|
rs7652072
|
0.00530
|
NM_000187.4(HGD):c.260A>C (p.Glu87Ala)
|
rs35702995
|
0.00416
|
NM_000187.3(HGD):c.-207G>A
|
rs147272996
|
0.00306
|
NM_000187.4(HGD):c.711C>A (p.Arg237=)
|
rs147204182
|
0.00302
|
NM_000187.4(HGD):c.129G>A (p.Gln43=)
|
rs142789485
|
0.00165
|
NM_000187.4(HGD):c.919C>T (p.Arg307Cys)
|
rs143556739
|
0.00124
|
NM_000187.3(HGD):c.-452G>T
|
rs142298361
|
0.00099
|
NM_000187.3(HGD):c.-383C>G
|
rs148732655
|
0.00089
|
NM_000187.3(HGD):c.*210G>A
|
rs768955353
|
0.00061
|
NM_000187.4(HGD):c.1128C>G (p.Asp376Glu)
|
rs150145204
|
0.00060
|
NM_000187.4(HGD):c.360T>C (p.Cys120=)
|
rs149165166
|
0.00054
|
NM_000187.4(HGD):c.*32G>A
|
rs376051958
|
0.00035
|
NM_000187.4(HGD):c.1102A>G (p.Met368Val)
|
rs120074173
|
0.00031
|
NM_000187.4(HGD):c.221A>T (p.Glu74Val)
|
rs141965690
|
0.00027
|
NM_000187.3(HGD):c.-221G>A
|
rs535973482
|
0.00026
|
NM_000187.4(HGD):c.835C>A (p.Leu279Met)
|
rs200382812
|
0.00022
|
NM_000187.4(HGD):c.8A>C (p.Glu3Ala)
|
rs200412910
|
0.00022
|
NM_000187.4(HGD):c.481G>A (p.Gly161Arg)
|
rs28941783
|
0.00016
|
NM_000187.4(HGD):c.1176C>T (p.Ala392=)
|
rs368805723
|
0.00013
|
NM_000187.4(HGD):c.231C>T (p.Asp77=)
|
rs147017317
|
0.00013
|
NM_000187.4(HGD):c.567C>G (p.Ser189Arg)
|
rs750428921
|
0.00013
|
NM_000187.3(HGD):c.-218A>G
|
rs553200191
|
0.00012
|
NM_000187.4(HGD):c.1112A>G (p.His371Arg)
|
rs120074172
|
0.00012
|
NM_000187.4(HGD):c.*155A>G
|
rs776810530
|
0.00011
|
NM_000187.4(HGD):c.141G>A (p.Ser47=)
|
rs541268108
|
0.00011
|
NM_000187.4(HGD):c.752G>A (p.Gly251Asp)
|
rs781011621
|
0.00011
|
NM_000187.4(HGD):c.111C>T (p.Tyr37=)
|
rs772792095
|
0.00010
|
NM_000187.4(HGD):c.1080G>A (p.Gly360=)
|
rs752713602
|
0.00009
|
NM_000187.4(HGD):c.1206A>G (p.Ser402=)
|
rs140500816
|
0.00009
|
NM_000187.4(HGD):c.993T>C (p.Pro331=)
|
rs747288180
|
0.00009
|
NM_000187.4(HGD):c.969G>A (p.Gly323=)
|
rs376724242
|
0.00008
|
NM_000187.4(HGD):c.125A>C (p.Glu42Ala)
|
rs373921680
|
0.00007
|
NM_000187.4(HGD):c.-19C>T
|
rs376849236
|
0.00006
|
NM_000187.4(HGD):c.158G>A (p.Arg53Gln)
|
rs200808744
|
0.00006
|
NM_000187.4(HGD):c.365C>T (p.Ala122Val)
|
rs544956641
|
0.00006
|
NM_000187.4(HGD):c.501C>T (p.Thr167=)
|
rs146878140
|
0.00006
|
NM_000187.4(HGD):c.550-14G>C
|
rs769000073
|
0.00006
|
NM_000187.4(HGD):c.786G>A (p.Pro262=)
|
rs747648606
|
0.00006
|
NM_000187.4(HGD):c.794T>C (p.Val265Ala)
|
rs554816026
|
0.00006
|
NM_000187.4(HGD):c.808G>A (p.Gly270Arg)
|
rs120074174
|
0.00006
|
NM_000187.4(HGD):c.396T>A (p.Ala132=)
|
rs768585616
|
0.00005
|
NM_000187.4(HGD):c.*145C>T
|
rs1011081332
|
0.00004
|
NM_000187.4(HGD):c.1027A>C (p.Met343Leu)
|
rs755078457
|
0.00004
|
NM_000187.4(HGD):c.16-1G>A
|
rs397515347
|
0.00004
|
NM_000187.4(HGD):c.177-5T>C
|
rs768308376
|
0.00004
|
NM_000187.4(HGD):c.24T>C (p.Ser8=)
|
rs745386219
|
0.00004
|
NM_000187.4(HGD):c.347T>C (p.Leu116Pro)
|
rs569846003
|
0.00004
|
NM_000187.4(HGD):c.359G>T (p.Cys120Phe)
|
rs752153829
|
0.00004
|
NM_000187.4(HGD):c.502G>A (p.Glu168Lys)
|
rs375283568
|
0.00004
|
NM_000187.4(HGD):c.6T>A (p.Ala2=)
|
rs1308413187
|
0.00004
|
NM_000187.4(HGD):c.807C>T (p.His269=)
|
rs758567130
|
0.00004
|
NM_000187.3(HGD):c.-446G>T
|
rs541656880
|
0.00003
|
NM_000187.4(HGD):c.-100G>A
|
rs547960368
|
0.00003
|
NM_000187.4(HGD):c.477G>A (p.Gln159=)
|
rs1351109217
|
0.00003
|
NM_000187.4(HGD):c.688C>T (p.Pro230Ser)
|
rs28942100
|
0.00003
|
NM_000187.4(HGD):c.709C>T (p.Arg237Cys)
|
rs1171237852
|
0.00003
|
NM_000187.4(HGD):c.765T>C (p.Ala255=)
|
rs747764475
|
0.00003
|
NM_000187.4(HGD):c.920G>A (p.Arg307His)
|
rs752719362
|
0.00003
|
NM_000187.4(HGD):c.990G>T (p.Arg330Ser)
|
rs120074171
|
0.00003
|
NM_000187.4(HGD):c.1305T>C (p.Thr435=)
|
rs571129573
|
0.00002
|
NM_000187.4(HGD):c.1336T>C (p.Ter446Arg)
|
rs143370662
|
0.00002
|
NM_000187.4(HGD):c.342+1G>T
|
rs397515518
|
0.00002
|
NM_000187.4(HGD):c.367G>A (p.Gly123Arg)
|
rs564979861
|
0.00002
|
NM_000187.4(HGD):c.469+2T>C
|
rs745333667
|
0.00002
|
NM_000187.4(HGD):c.58C>T (p.Arg20Cys)
|
rs755454185
|
0.00002
|
NM_000187.4(HGD):c.732G>A (p.Thr244=)
|
rs769516009
|
0.00002
|
NM_000187.3(HGD):c.-255G>T
|
rs886057820
|
0.00001
|
NM_000187.4(HGD):c.-13G>C
|
rs775087041
|
0.00001
|
NM_000187.4(HGD):c.-18A>G
|
rs755624842
|
0.00001
|
NM_000187.4(HGD):c.1007-2A>T
|
rs1559781702
|
0.00001
|
NM_000187.4(HGD):c.1078G>C (p.Gly360Arg)
|
rs368717991
|
0.00001
|
NM_000187.4(HGD):c.1107C>A (p.Thr369=)
|
rs1165278353
|
0.00001
|
NM_000187.4(HGD):c.1110C>A (p.Pro370=)
|
rs760307527
|
0.00001
|
NM_000187.4(HGD):c.1188+1G>A
|
rs760206323
|
0.00001
|
NM_000187.4(HGD):c.11T>A (p.Leu4Ter)
|
rs786204422
|
0.00001
|
NM_000187.4(HGD):c.120T>C (p.Tyr40=)
|
rs369064890
|
0.00001
|
NM_000187.4(HGD):c.1266C>T (p.Asn422=)
|
rs1417213536
|
0.00001
|
NM_000187.4(HGD):c.1335T>C (p.Asn445=)
|
rs187614203
|
0.00001
|
NM_000187.4(HGD):c.157C>T (p.Arg53Trp)
|
rs759435977
|
0.00001
|
NM_000187.4(HGD):c.16-2063A>C
|
rs1168687230
|
0.00001
|
NM_000187.4(HGD):c.168T>C (p.Asn56=)
|
rs773277281
|
0.00001
|
NM_000187.4(HGD):c.27A>T (p.Gly9=)
|
rs780784207
|
0.00001
|
NM_000187.4(HGD):c.288A>G (p.Arg96=)
|
rs776344570
|
0.00001
|
NM_000187.4(HGD):c.291G>A (p.Trp97Ter)
|
rs766714128
|
0.00001
|
NM_000187.4(HGD):c.307C>A (p.Pro103Thr)
|
rs559502955
|
0.00001
|
NM_000187.4(HGD):c.327A>G (p.Lys109=)
|
rs774514092
|
0.00001
|
NM_000187.4(HGD):c.343-5C>T
|
rs779590565
|
0.00001
|
NM_000187.4(HGD):c.343G>C (p.Gly115Arg)
|
rs755734596
|
0.00001
|
NM_000187.4(HGD):c.390G>T (p.Gly130=)
|
rs774183442
|
0.00001
|
NM_000187.4(HGD):c.434+8G>T
|
rs745572601
|
0.00001
|
NM_000187.4(HGD):c.473C>T (p.Pro158Leu)
|
rs375396766
|
0.00001
|
NM_000187.4(HGD):c.536T>G (p.Ile179Ser)
|
rs1031569954
|
0.00001
|
NM_000187.4(HGD):c.540C>T (p.Cys180=)
|
rs1447439273
|
0.00001
|
NM_000187.4(HGD):c.561G>A (p.Arg187=)
|
rs1436826620
|
0.00001
|
NM_000187.4(HGD):c.587C>T (p.Thr196Ile)
|
rs781491692
|
0.00001
|
NM_000187.4(HGD):c.612T>C (p.Tyr204=)
|
rs765182260
|
0.00001
|
NM_000187.4(HGD):c.673C>T (p.Arg225Cys)
|
rs756789146
|
0.00001
|
NM_000187.4(HGD):c.674G>A (p.Arg225His)
|
rs562853291
|
0.00001
|
NM_000187.4(HGD):c.682T>C (p.Leu228=)
|
rs1282585373
|
0.00001
|
NM_000187.4(HGD):c.702T>C (p.Tyr234=)
|
rs771518151
|
0.00001
|
NM_000187.4(HGD):c.710G>A (p.Arg237His)
|
rs866509210
|
0.00001
|
NM_000187.4(HGD):c.810G>A (p.Gly270=)
|
rs1940985320
|
0.00001
|
NM_000187.4(HGD):c.816T>C (p.Tyr272=)
|
rs1036188406
|
0.00001
|
NM_000187.4(HGD):c.821C>T (p.Pro274Leu)
|
rs1397264922
|
0.00001
|
NM_000187.4(HGD):c.834C>T (p.Asn278=)
|
rs1194280787
|
0.00001
|
NM_000187.4(HGD):c.879+9G>T
|
rs915477284
|
0.00001
|
NM_000187.4(HGD):c.880-5C>T
|
rs746239685
|
0.00001
|
NM_000187.4(HGD):c.912G>A (p.Lys304=)
|
rs1189623213
|
0.00001
|
NM_000187.4(HGD):c.915T>C (p.Ser305=)
|
rs144158342
|
0.00001
|
NM_000187.4(HGD):c.923C>G (p.Pro308Arg)
|
rs201529624
|
0.00001
|
NM_000187.4(HGD):c.967G>A (p.Gly323Arg)
|
rs762564483
|
0.00001
|
NC_000003.11:g.(?_120347227)_(120347417_?)del
|
|
|
NC_000003.11:g.(?_120393728)_(120394730_?)del
|
|
|
NC_000003.11:g.(?_120394619)_(120394730_?)del
|
|
|
NC_000003.11:g.(?_120400924)_(120400958_?)del
|
|
|
NC_000003.12:g.(?_120633127)_(120633348_?)del
|
|
|
NC_000003.12:g.(?_120647857)_(120647931_?)del
|
|
|
NC_000003.12:g.120644443_120644444del
|
rs786204662
|
|
NC_000003.12:g.120655369_120682240del
|
|
|
NM_000187.3(HGD):c.-163C>G
|
rs556156265
|
|
NM_000187.3(HGD):c.-241A>G
|
rs886057819
|
|
NM_000187.3(HGD):c.-407C>T
|
rs886057821
|
|
NM_000187.4(HGD):c.*117G>A
|
rs1940481443
|
|
NM_000187.4(HGD):c.1006+2T>A
|
rs1320184173
|
|
NM_000187.4(HGD):c.1006+6T>C
|
|
|
NM_000187.4(HGD):c.1006+9C>T
|
|
|
NM_000187.4(HGD):c.1007-1709_1188+1121del
|
|
|
NM_000187.4(HGD):c.1007-18C>T
|
|
|
NM_000187.4(HGD):c.1007-3del
|
rs1261269370
|
|
NM_000187.4(HGD):c.1007G>A (p.Arg336Lys)
|
|
|
NM_000187.4(HGD):c.1007G>C (p.Arg336Thr)
|
|
|
NM_000187.4(HGD):c.1008dup
|
|
|
NM_000187.4(HGD):c.1009A>G (p.Asn337Asp)
|
|
|
NM_000187.4(HGD):c.100del (p.Val34fs)
|
|
|
NM_000187.4(HGD):c.1016del (p.Met339fs)
|
|
|
NM_000187.4(HGD):c.1017_1019delinsTA (p.Met339fs)
|
rs1057517081
|
|
NM_000187.4(HGD):c.1019G>T (p.Ser340Ile)
|
|
|
NM_000187.4(HGD):c.1031del (p.Gly344fs)
|
rs1295089623
|
|
NM_000187.4(HGD):c.1034T>C (p.Leu345Pro)
|
|
|
NM_000187.4(HGD):c.1034T>G (p.Leu345Arg)
|
|
|
NM_000187.4(HGD):c.1037T>C (p.Ile346Thr)
|
|
|
NM_000187.4(HGD):c.1039C>T (p.Arg347Ter)
|
rs975005146
|
|
NM_000187.4(HGD):c.1040G>A (p.Arg347Gln)
|
|
|
NM_000187.4(HGD):c.1040G>C (p.Arg347Pro)
|
|
|
NM_000187.4(HGD):c.1049A>G (p.Tyr350Cys)
|
|
|
NM_000187.4(HGD):c.1057A>C (p.Lys353Gln)
|
|
|
NM_000187.4(HGD):c.105C>A (p.Cys35Ter)
|
|
|
NM_000187.4(HGD):c.1060C>T (p.Gln354Ter)
|
|
|
NM_000187.4(HGD):c.1061A>C (p.Gln354Pro)
|
|
|
NM_000187.4(HGD):c.1061A>G (p.Gln354Arg)
|
|
|
NM_000187.4(HGD):c.1064dup (p.Gly356fs)
|
rs1057516847
|
|
NM_000187.4(HGD):c.1068G>A (p.Gly356=)
|
rs1940648400
|
|
NM_000187.4(HGD):c.1075C>T (p.Pro359Ser)
|
|
|
NM_000187.4(HGD):c.1076C>T (p.Pro359Leu)
|
|
|
NM_000187.4(HGD):c.1079G>C (p.Gly360Ala)
|
|
|
NM_000187.4(HGD):c.1080G>C (p.Gly360=)
|
rs752713602
|
|
NM_000187.4(HGD):c.1081G>A (p.Gly361Arg)
|
rs765219004
|
|
NM_000187.4(HGD):c.1084G>A (p.Gly362Arg)
|
rs2107489383
|
|
NM_000187.4(HGD):c.1085G>A (p.Gly362Glu)
|
|
|
NM_000187.4(HGD):c.1095_1100dup (p.Thr367_Met368insSerThr)
|
|
|
NM_000187.4(HGD):c.1097G>A (p.Ser366Asn)
|
|
|
NM_000187.4(HGD):c.1098C>T (p.Ser366=)
|
|
|
NM_000187.4(HGD):c.109T>G (p.Tyr37Asp)
|
|
|
NM_000187.4(HGD):c.1106C>A (p.Thr369Asn)
|
rs765912447
|
|
NM_000187.4(HGD):c.1110C>T (p.Pro370=)
|
|
|
NM_000187.4(HGD):c.1111del (p.His371fs)
|
rs397515516
|
|
NM_000187.4(HGD):c.1111dup (p.His371fs)
|
rs397515516
|
|
NM_000187.4(HGD):c.1112dup (p.His371fs)
|
|
|
NM_000187.4(HGD):c.1114G>A (p.Gly372Arg)
|
rs1940645842
|
|
NM_000187.4(HGD):c.1115G>T (p.Gly372Val)
|
rs1940645751
|
|
NM_000187.4(HGD):c.1115_1117del (p.Gly372_Pro373delinsAla)
|
|
|
NM_000187.4(HGD):c.1118C>T (p.Pro373Leu)
|
|
|
NM_000187.4(HGD):c.1120G>C (p.Asp374His)
|
rs981454067
|
|
NM_000187.4(HGD):c.1131C>A (p.Cys377Ter)
|
|
|
NM_000187.4(HGD):c.1157_1160del (p.Leu386fs)
|
|
|
NM_000187.4(HGD):c.1162C>T (p.Pro388Ser)
|
|
|
NM_000187.4(HGD):c.1185del (p.Met396fs)
|
rs2107489196
|
|
NM_000187.4(HGD):c.1188+1G>T
|
rs760206323
|
|
NM_000187.4(HGD):c.1188+2T>A
|
|
|
NM_000187.4(HGD):c.1188+7A>T
|
|
|
NM_000187.4(HGD):c.1188+8T>A
|
|
|
NM_000187.4(HGD):c.1188+8T>C
|
rs1940642048
|
|
NM_000187.4(HGD):c.1189-14G>A
|
|
|
NM_000187.4(HGD):c.1189-20C>G
|
|
|
NM_000187.4(HGD):c.1189-41_1248del
|
|
|
NM_000187.4(HGD):c.1189-4C>T
|
rs1940489783
|
|
NM_000187.4(HGD):c.1189-8T>A
|
rs2107483848
|
|
NM_000187.4(HGD):c.1191A>G (p.Ala397=)
|
|
|
NM_000187.4(HGD):c.119A>C (p.Tyr40Ser)
|
|
|
NM_000187.4(HGD):c.11T>C (p.Leu4Ser)
|
rs786204422
|
|
NM_000187.4(HGD):c.1201G>C (p.Glu401Gln)
|
rs767159114
|
|
NM_000187.4(HGD):c.1230G>A (p.Lys410=)
|
|
|
NM_000187.4(HGD):c.1242G>A (p.Lys414=)
|
|
|
NM_000187.4(HGD):c.1245del (p.Ser416fs)
|
rs2107483736
|
|
NM_000187.4(HGD):c.1248C>T (p.Ser416=)
|
rs2107483728
|
|
NM_000187.4(HGD):c.1249A>C (p.Arg417=)
|
|
|
NM_000187.4(HGD):c.1269C>A (p.Tyr423Ter)
|
rs1186509068
|
|
NM_000187.4(HGD):c.1275G>A (p.Lys425=)
|
|
|
NM_000187.4(HGD):c.127C>G (p.Gln43Glu)
|
rs1243059404
|
|
NM_000187.4(HGD):c.1281G>A (p.Trp427Ter)
|
|
|
NM_000187.4(HGD):c.1287A>T (p.Pro429=)
|
rs2107483639
|
|
NM_000187.4(HGD):c.1288del (p.Leu430fs)
|
rs2107483632
|
|
NM_000187.4(HGD):c.1290C>T (p.Leu430=)
|
rs2107483622
|
|
NM_000187.4(HGD):c.1290_1300del (p.Lys431fs)
|
rs1553715351
|
|
NM_000187.4(HGD):c.1299C>T (p.His433=)
|
rs2107483607
|
|
NM_000187.4(HGD):c.130C>T (p.Leu44Phe)
|
|
|
NM_000187.4(HGD):c.1314C>T (p.Ser438=)
|
|
|
NM_000187.4(HGD):c.131T>C (p.Leu44Pro)
|
rs1708095030
|
|
NM_000187.4(HGD):c.1320C>T (p.Asn440=)
|
|
|
NM_000187.4(HGD):c.132C>T (p.Leu44=)
|
rs1413985635
|
|
NM_000187.4(HGD):c.1332T>C (p.Pro444=)
|
|
|
NM_000187.4(HGD):c.133del (p.Ser45fs)
|
|
|
NM_000187.4(HGD):c.140C>T (p.Ser47Leu)
|
rs369517993
|
|
NM_000187.4(HGD):c.148_149del (p.Thr50fs)
|
|
|
NM_000187.4(HGD):c.15+15G>A
|
|
|
NM_000187.4(HGD):c.15+16A>T
|
|
|
NM_000187.4(HGD):c.15+1G>A
|
rs552207335
|
|
NM_000187.4(HGD):c.15+8del
|
rs771784891
|
|
NM_000187.4(HGD):c.15G>A (p.Lys5=)
|
|
|
NM_000187.4(HGD):c.16-272_87+305del
|
rs1553721650
|
|
NM_000187.4(HGD):c.164_166del (p.Thr55del)
|
rs1708093744
|
|
NM_000187.4(HGD):c.165C>T (p.Thr55=)
|
|
|
NM_000187.4(HGD):c.170del (p.Lys57fs)
|
|
|
NM_000187.4(HGD):c.171G>C (p.Lys57Asn)
|
|
|
NM_000187.4(HGD):c.174A>T (p.Arg58Ser)
|
|
|
NM_000187.4(HGD):c.175del (p.Ser59fs)
|
rs397515517
|
|
NM_000187.4(HGD):c.176+13G>C
|
|
|
NM_000187.4(HGD):c.176+14A>T
|
|
|
NM_000187.4(HGD):c.177-14_177-11del
|
|
|
NM_000187.4(HGD):c.177-16A>G
|
|
|
NM_000187.4(HGD):c.177-17T>C
|
|
|
NM_000187.4(HGD):c.177-18G>C
|
|
|
NM_000187.4(HGD):c.177-19T>C
|
|
|
NM_000187.4(HGD):c.177-1G>A
|
rs1057517370
|
|
NM_000187.4(HGD):c.177-1G>T
|
|
|
NM_000187.4(HGD):c.177-2A>G
|
|
|
NM_000187.4(HGD):c.177-4C>T
|
|
|
NM_000187.4(HGD):c.177-9T>C
|
rs2107548928
|
|
NM_000187.4(HGD):c.178T>G (p.Trp60Gly)
|
|
|
NM_000187.4(HGD):c.179G>A (p.Trp60Ter)
|
rs1057516467
|
|
NM_000187.4(HGD):c.180G>A (p.Trp60Ter)
|
|
|
NM_000187.4(HGD):c.182T>C (p.Leu61Pro)
|
|
|
NM_000187.4(HGD):c.184T>A (p.Tyr62Asn)
|
|
|
NM_000187.4(HGD):c.184_187dup (p.Arg63delinsIleTer)
|
|
|
NM_000187.4(HGD):c.185A>G (p.Tyr62Cys)
|
|
|
NM_000187.4(HGD):c.186T>A (p.Tyr62Ter)
|
|
|
NM_000187.4(HGD):c.186T>C (p.Tyr62=)
|
|
|
NM_000187.4(HGD):c.186T>G (p.Tyr62Ter)
|
rs2107548853
|
|
NM_000187.4(HGD):c.189G>A (p.Arg63=)
|
|
|
NM_000187.4(HGD):c.189G>T (p.Arg63Ser)
|
rs1390061303
|
|
NM_000187.4(HGD):c.18C>T (p.Tyr6=)
|
rs769728875
|
|
NM_000187.4(HGD):c.198T>C (p.Pro66=)
|
rs2107548808
|
|
NM_000187.4(HGD):c.1A>G (p.Met1Val)
|
rs1708240463
|
|
NM_000187.4(HGD):c.210C>T (p.His70=)
|
|
|
NM_000187.4(HGD):c.216C>T (p.Pro72=)
|
|
|
NM_000187.4(HGD):c.217T>C (p.Phe73Leu)
|
|
|
NM_000187.4(HGD):c.225C>T (p.Ser75=)
|
rs2107548752
|
|
NM_000187.4(HGD):c.228T>C (p.Ile76=)
|
rs2107548724
|
|
NM_000187.4(HGD):c.237C>T (p.Gly79=)
|
|
|
NM_000187.4(HGD):c.237_240del (p.Gln80fs)
|
|
|
NM_000187.4(HGD):c.243C>T (p.Val81=)
|
rs377043265
|
|
NM_000187.4(HGD):c.255G>A (p.Trp85Ter)
|
|
|
NM_000187.4(HGD):c.274C>A (p.Pro92Thr)
|
|
|
NM_000187.4(HGD):c.278A>G (p.Asn93Ser)
|
|
|
NM_000187.4(HGD):c.279C>T (p.Asn93=)
|
|
|
NM_000187.4(HGD):c.282+11C>T
|
|
|
NM_000187.4(HGD):c.282+14G>A
|
|
|
NM_000187.4(HGD):c.282+5C>A
|
|
|
NM_000187.4(HGD):c.283-12dup
|
rs777429123
|
|
NM_000187.4(HGD):c.283-13A>T
|
|
|
NM_000187.4(HGD):c.283-18T>A
|
|
|
NM_000187.4(HGD):c.283-18T>C
|
|
|
NM_000187.4(HGD):c.283-1G>A
|
rs2107522179
|
|
NM_000187.4(HGD):c.283-20T>C
|
|
|
NM_000187.4(HGD):c.283-5del
|
rs777429123
|
|
NM_000187.4(HGD):c.289T>C (p.Trp97Arg)
|
|
|
NM_000187.4(HGD):c.289T>G (p.Trp97Gly)
|
|
|
NM_000187.4(HGD):c.291G>C (p.Trp97Cys)
|
|
|
NM_000187.4(HGD):c.299T>C (p.Phe100Ser)
|
|
|
NM_000187.4(HGD):c.302_303insTG (p.Glu101fs)
|
|
|
NM_000187.4(HGD):c.31_32delinsATT (p.Gly11fs)
|
rs1057516362
|
|
NM_000187.4(HGD):c.334T>G (p.Phe112Val)
|
|
|
NM_000187.4(HGD):c.335T>C (p.Phe112Ser)
|
|
|
NM_000187.4(HGD):c.339_342+2del
|
rs1057516662
|
|
NM_000187.4(HGD):c.33G>C (p.Gly11=)
|
rs886415775
|
|
NM_000187.4(HGD):c.342+15T>A
|
|
|
NM_000187.4(HGD):c.342+16_342+17del
|
|
|
NM_000187.4(HGD):c.342+19C>T
|
|
|
NM_000187.4(HGD):c.342+1G>A
|
rs397515518
|
|
NM_000187.4(HGD):c.342+20A>G
|
|
|
NM_000187.4(HGD):c.342+2T>C
|
|
|
NM_000187.4(HGD):c.342+3A>C
|
|
|
NM_000187.4(HGD):c.342+9G>T
|
rs1941376798
|
|
NM_000187.4(HGD):c.343-11G>A
|
rs143223637
|
|
NM_000187.4(HGD):c.343-11G>T
|
|
|
NM_000187.4(HGD):c.343-11del
|
|
|
NM_000187.4(HGD):c.343-20_343-19del
|
|
|
NM_000187.4(HGD):c.343-6T>A
|
rs753344566
|
|
NM_000187.4(HGD):c.346del (p.Leu116fs)
|
rs1057516911
|
|
NM_000187.4(HGD):c.357dup (p.Cys120fs)
|
|
|
NM_000187.4(HGD):c.360T>G (p.Cys120Trp)
|
rs149165166
|
|
NM_000187.4(HGD):c.362G>A (p.Gly121Glu)
|
|
|
NM_000187.4(HGD):c.365C>A (p.Ala122Asp)
|
|
|
NM_000187.4(HGD):c.368G>A (p.Gly123Glu)
|
rs374473331
|
|
NM_000187.4(HGD):c.368G>C (p.Gly123Ala)
|
|
|
NM_000187.4(HGD):c.375A>T (p.Ile125=)
|
|
|
NM_000187.4(HGD):c.376_377del (p.Lys126fs)
|
rs1057516976
|
|
NM_000187.4(HGD):c.378del (p.Lys126fs)
|
|
|
NM_000187.4(HGD):c.37G>A (p.Glu13Lys)
|
|
|
NM_000187.4(HGD):c.390del (p.Ala132fs)
|
rs1057516352
|
|
NM_000187.4(HGD):c.398del (p.Ile133fs)
|
|
|
NM_000187.4(HGD):c.3G>C (p.Met1Ile)
|
rs1057516355
|
|
NM_000187.4(HGD):c.401A>G (p.His134Arg)
|
|
|
NM_000187.4(HGD):c.407T>A (p.Phe136Tyr)
|
|
|
NM_000187.4(HGD):c.409del (p.Leu137fs)
|
rs1057516921
|
|
NM_000187.4(HGD):c.410T>C (p.Leu137Pro)
|
|
|
NM_000187.4(HGD):c.413G>A (p.Cys138Tyr)
|
rs1941316527
|
|
NM_000187.4(HGD):c.413_434+35del
|
|
|
NM_000187.4(HGD):c.420C>T (p.Thr140=)
|
|
|
NM_000187.4(HGD):c.433A>T (p.Arg145Ter)
|
|
|
NM_000187.4(HGD):c.434+12A>G
|
|
|
NM_000187.4(HGD):c.434+13G>C
|
|
|
NM_000187.4(HGD):c.434+14T>C
|
|
|
NM_000187.4(HGD):c.434+19G>A
|
|
|
NM_000187.4(HGD):c.434+19G>T
|
|
|
NM_000187.4(HGD):c.434+1del
|
|
|
NM_000187.4(HGD):c.434+20G>A
|
|
|
NM_000187.4(HGD):c.435-1G>C
|
|
|
NM_000187.4(HGD):c.43T>C (p.Ser15Pro)
|
rs2107557717
|
|
NM_000187.4(HGD):c.440T>C (p.Phe147Ser)
|
|
|
NM_000187.4(HGD):c.447T>A (p.Asn149Lys)
|
rs2107513499
|
|
NM_000187.4(HGD):c.448del (p.Ser150fs)
|
|
|
NM_000187.4(HGD):c.449C>T (p.Ser150Leu)
|
|
|
NM_000187.4(HGD):c.454G>A (p.Gly152Arg)
|
|
|
NM_000187.4(HGD):c.455G>C (p.Gly152Ala)
|
rs1553717936
|
|
NM_000187.4(HGD):c.457G>A (p.Asp153Asn)
|
|
|
NM_000187.4(HGD):c.457dup (p.Asp153fs)
|
rs397515346
|
|
NM_000187.4(HGD):c.458A>G (p.Asp153Gly)
|
|
|
NM_000187.4(HGD):c.469+15C>G
|
|
|
NM_000187.4(HGD):c.469+1G>C
|
rs1260545974
|
|
NM_000187.4(HGD):c.469+5G>A
|
|
|
NM_000187.4(HGD):c.469+6T>C
|
|
|
NM_000187.4(HGD):c.469G>T (p.Val157Phe)
|
|
|
NM_000187.4(HGD):c.470-11T>G
|
|
|
NM_000187.4(HGD):c.470-18C>T
|
|
|
NM_000187.4(HGD):c.470-1G>A
|
|
|
NM_000187.4(HGD):c.470-1_470insA
|
|
|
NM_000187.4(HGD):c.470-5G>A
|
rs980173157
|
|
NM_000187.4(HGD):c.470-6del
|
|
|
NM_000187.4(HGD):c.472_496del (p.Pro158fs)
|
|
|
NM_000187.4(HGD):c.473C>G (p.Pro158Arg)
|
|
|
NM_000187.4(HGD):c.474G>A (p.Pro158=)
|
rs2293734
|
|
NM_000187.4(HGD):c.474G>T (p.Pro158=)
|
rs2293734
|
|
NM_000187.4(HGD):c.480A>G (p.Lys160=)
|
|
|
NM_000187.4(HGD):c.482G>A (p.Gly161Glu)
|
|
|
NM_000187.4(HGD):c.48A>G (p.Ser16=)
|
rs886057818
|
|
NM_000187.4(HGD):c.499A>G (p.Thr167Ala)
|
|
|
NM_000187.4(HGD):c.500C>T (p.Thr167Ile)
|
|
|
NM_000187.4(HGD):c.502G>T (p.Glu168Ter)
|
rs375283568
|
|
NM_000187.4(HGD):c.504G>C (p.Glu168Asp)
|
|
|
NM_000187.4(HGD):c.507T>C (p.Phe169=)
|
|
|
NM_000187.4(HGD):c.508G>A (p.Gly170Ser)
|
|
|
NM_000187.4(HGD):c.509G>C (p.Gly170Ala)
|
|
|
NM_000187.4(HGD):c.513G>T (p.Lys171Asn)
|
|
|
NM_000187.4(HGD):c.515T>C (p.Met172Thr)
|
|
|
NM_000187.4(HGD):c.518T>A (p.Leu173His)
|
|
|
NM_000187.4(HGD):c.518T>C (p.Leu173Pro)
|
|
|
NM_000187.4(HGD):c.525G>A (p.Gln175=)
|
|
|
NM_000187.4(HGD):c.52G>A (p.Asp18Asn)
|
|
|
NM_000187.4(HGD):c.52G>T (p.Asp18Tyr)
|
|
|
NM_000187.4(HGD):c.532G>T (p.Glu178Ter)
|
rs1941184654
|
|
NM_000187.4(HGD):c.533A>G (p.Glu178Gly)
|
|
|
NM_000187.4(HGD):c.541G>A (p.Val181Ile)
|
|
|
NM_000187.4(HGD):c.541G>T (p.Val181Phe)
|
|
|
NM_000187.4(HGD):c.549+1G>A
|
|
|
NM_000187.4(HGD):c.549+1G>T
|
|
|
NM_000187.4(HGD):c.549G>T (p.Gln183His)
|
|
|
NM_000187.4(HGD):c.54T>A (p.Asp18Glu)
|
|
|
NM_000187.4(HGD):c.550-2A>C
|
|
|
NM_000187.4(HGD):c.550-2A>G
|
|
|
NM_000187.4(HGD):c.550-7A>C
|
|
|
NM_000187.4(HGD):c.550-9C>A
|
|
|
NM_000187.4(HGD):c.553G>A (p.Gly185Arg)
|
|
|
NM_000187.4(HGD):c.557T>A (p.Met186Lys)
|
|
|
NM_000187.4(HGD):c.559C>A (p.Arg187=)
|
rs756255206
|
|
NM_000187.4(HGD):c.559C>G (p.Arg187Gly)
|
rs756255206
|
|
NM_000187.4(HGD):c.566G>T (p.Ser189Ile)
|
rs2107510544
|
|
NM_000187.4(HGD):c.57T>G (p.Pro19=)
|
|
|
NM_000187.4(HGD):c.583G>T (p.Glu195Ter)
|
rs1184695718
|
|
NM_000187.4(HGD):c.588_597del (p.Arg197fs)
|
|
|
NM_000187.4(HGD):c.588del (p.Arg197fs)
|
|
|
NM_000187.4(HGD):c.589A>G (p.Arg197Gly)
|
|
|
NM_000187.4(HGD):c.58del (p.Arg20fs)
|
rs1057516849
|
|
NM_000187.4(HGD):c.593G>A (p.Gly198Asp)
|
|
|
NM_000187.4(HGD):c.614G>A (p.Gly205Asp)
|
|
|
NM_000187.4(HGD):c.614G>T (p.Gly205Val)
|
|
|
NM_000187.4(HGD):c.624T>C (p.Phe208=)
|
rs1576295648
|
|
NM_000187.4(HGD):c.626_635del (p.Glu209fs)
|
|
|
NM_000187.4(HGD):c.633T>C (p.Pro211=)
|
|
|
NM_000187.4(HGD):c.647T>C (p.Ile216Thr)
|
|
|
NM_000187.4(HGD):c.649+13T>C
|
|
|
NM_000187.4(HGD):c.649+13T>G
|
|
|
NM_000187.4(HGD):c.649+18G>A
|
|
|
NM_000187.4(HGD):c.649+1G>A
|
|
|
NM_000187.4(HGD):c.649+2T>C
|
rs1057516307
|
|
NM_000187.4(HGD):c.649+39T>G
|
|
|
NM_000187.4(HGD):c.649G>T (p.Gly217Trp)
|
|
|
NM_000187.4(HGD):c.650-13T>G
|
|
|
NM_000187.4(HGD):c.650-17G>A
|
|
|
NM_000187.4(HGD):c.650-56G>A
|
|
|
NM_000187.4(HGD):c.652del
|
rs786204662
|
|
NM_000187.4(HGD):c.656A>G (p.Asn219Ser)
|
|
|
NM_000187.4(HGD):c.656_657insAATCAA (p.Ala218_Asn219insLysIle)
|
|
|
NM_000187.4(HGD):c.659G>T (p.Gly220Val)
|
|
|
NM_000187.4(HGD):c.660C>G (p.Gly220=)
|
|
|
NM_000187.4(HGD):c.662T>A (p.Leu221Ter)
|
|
|
NM_000187.4(HGD):c.663G>A (p.Leu221=)
|
rs755921083
|
|
NM_000187.4(HGD):c.664_674dup (p.Asp226fs)
|
|
|
NM_000187.4(HGD):c.665C>A (p.Ala222Asp)
|
rs1576294110
|
|
NM_000187.4(HGD):c.666C>G (p.Ala222=)
|
|
|
NM_000187.4(HGD):c.672T>C (p.Pro224=)
|
|
|
NM_000187.4(HGD):c.673del (p.Arg225fs)
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NM_000187.4(HGD):c.674G>C (p.Arg225Pro)
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NM_000187.4(HGD):c.674G>T (p.Arg225Leu)
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NM_000187.4(HGD):c.679T>C (p.Phe227Leu)
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NM_000187.4(HGD):c.680T>C (p.Phe227Ser)
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rs1941093400
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NM_000187.4(HGD):c.684G>A (p.Leu228=)
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NM_000187.4(HGD):c.688C>A (p.Pro230Thr)
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NM_000187.4(HGD):c.699G>A (p.Trp233Ter)
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NM_000187.4(HGD):c.702T>G (p.Tyr234Ter)
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NM_000187.4(HGD):c.714A>G (p.Gln238=)
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rs1194507329
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NM_000187.4(HGD):c.717A>T (p.Val239=)
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NM_000187.4(HGD):c.733G>T (p.Val245Phe)
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NM_000187.4(HGD):c.735C>T (p.Val245=)
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NM_000187.4(HGD):c.742A>G (p.Lys248Glu)
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NM_000187.4(HGD):c.747C>A (p.Tyr249Ter)
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NM_000187.4(HGD):c.748del (p.Gln250fs)
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NM_000187.4(HGD):c.74T>C (p.Leu25Pro)
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NM_000187.4(HGD):c.753C>T (p.Gly251=)
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rs1357020990
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NM_000187.4(HGD):c.756G>A (p.Lys252=)
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NM_000187.4(HGD):c.773A>C (p.Gln258Pro)
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NM_000187.4(HGD):c.774+17G>C
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NM_000187.4(HGD):c.774+1G>T
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NM_000187.4(HGD):c.774+20A>C
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NM_000187.4(HGD):c.774+7T>C
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NM_000187.4(HGD):c.775-15G>A
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NM_000187.4(HGD):c.775-15G>T
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NM_000187.4(HGD):c.775-16T>A
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NM_000187.4(HGD):c.775-1G>A
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rs2107502859
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NM_000187.4(HGD):c.781dup (p.Ser261fs)
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rs1057517418
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NM_000187.4(HGD):c.787T>C (p.Phe263Leu)
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NM_000187.4(HGD):c.791A>G (p.Asn264Ser)
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NM_000187.4(HGD):c.792T>C (p.Asn264=)
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rs2107502799
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NM_000187.4(HGD):c.800C>T (p.Ala267Val)
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NM_000187.4(HGD):c.804G>C (p.Trp268Cys)
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NM_000187.4(HGD):c.806A>G (p.His269Arg)
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NM_000187.4(HGD):c.815A>G (p.Tyr272Cys)
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NM_000187.4(HGD):c.820C>A (p.Pro274Thr)
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NM_000187.4(HGD):c.824del (p.Tyr275fs)
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NM_000187.4(HGD):c.828G>C (p.Lys276Asn)
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NM_000187.4(HGD):c.831C>T (p.Tyr277=)
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rs1940984085
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NM_000187.4(HGD):c.832A>G (p.Asn278Asp)
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NM_000187.4(HGD):c.852T>C (p.Val284=)
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NM_000187.4(HGD):c.85del (p.Gln29fs)
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NM_000187.4(HGD):c.860C>A (p.Ser287Ter)
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NM_000187.4(HGD):c.87+13A>G
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NM_000187.4(HGD):c.87+1G>A
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NM_000187.4(HGD):c.87+7G>A
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rs1576319604
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NM_000187.4(HGD):c.87+8C>T
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NM_000187.4(HGD):c.87+8_88-31del
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NM_000187.4(HGD):c.873C>A (p.Asp291Glu)
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NM_000187.4(HGD):c.875A>G (p.His292Arg)
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NM_000187.4(HGD):c.879+14C>T
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NM_000187.4(HGD):c.879+14del
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NM_000187.4(HGD):c.879+1G>A
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rs1553716979
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NM_000187.4(HGD):c.879+9G>A
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rs915477284
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NM_000187.4(HGD):c.88-20T>A
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NM_000187.4(HGD):c.88-7G>T
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rs759234521
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NM_000187.4(HGD):c.880-20C>A
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NM_000187.4(HGD):c.880-23_880-18del
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NM_000187.4(HGD):c.880-2A>G
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NM_000187.4(HGD):c.880-4A>G
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rs781667761
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NM_000187.4(HGD):c.891T>C (p.Ile297=)
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NM_000187.4(HGD):c.897A>G (p.Thr299=)
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NM_000187.4(HGD):c.898G>C (p.Val300Leu)
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NM_000187.4(HGD):c.899T>G (p.Val300Gly)
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rs120074170
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NM_000187.4(HGD):c.900A>G (p.Val300=)
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NM_000187.4(HGD):c.914C>T (p.Ser305Phe)
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NM_000187.4(HGD):c.926G>T (p.Gly309Val)
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NM_000187.4(HGD):c.931G>A (p.Ala311Thr)
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NM_000187.4(HGD):c.946G>A (p.Val316Ile)
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NM_000187.4(HGD):c.948C>A (p.Val316=)
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rs1576289221
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NM_000187.4(HGD):c.956del (p.Pro319fs)
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rs1057517089
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NM_000187.4(HGD):c.95C>A (p.Pro32His)
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NM_000187.4(HGD):c.960T>G (p.Pro320=)
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rs2107498220
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NM_000187.4(HGD):c.961C>T (p.Arg321Ter)
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NM_000187.4(HGD):c.962G>A (p.Arg321Gln)
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NM_000187.4(HGD):c.963A>G (p.Arg321=)
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NM_000187.4(HGD):c.964T>C (p.Trp322Arg)
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NM_000187.4(HGD):c.970dup (p.Val324fs)
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rs34214309
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NM_000187.4(HGD):c.972T>G (p.Val324=)
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NM_000187.4(HGD):c.986T>G (p.Phe329Cys)
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NM_000187.4(HGD):c.98A>G (p.Gln33Arg)
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NM_000187.4(HGD):c.990G>C (p.Arg330Ser)
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NM_000187.4(HGD):c.995C>G (p.Pro332Arg)
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NM_000187.4(HGD):c.999T>C (p.Tyr333=)
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NM_000187.4:c.283-9199_434+1688del
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