NC_000015.10:g.51622937C>T
|
rs1902597
|
0.99220
|
NM_001378457.1(DMXL2):c.-36A>C
|
rs6493514
|
0.81214
|
NM_001378457.1(DMXL2):c.8337+180G>C
|
rs7164999
|
0.75369
|
NM_001378457.1(DMXL2):c.747-198G>A
|
rs8031903
|
0.50858
|
NM_001378457.1(DMXL2):c.4908A>G (p.Gly1636=)
|
rs10851500
|
0.50188
|
NM_001378457.1(DMXL2):c.4673-248T>C
|
rs10467924
|
0.50119
|
NM_001378457.1(DMXL2):c.8338-44T>C
|
rs3736485
|
0.50114
|
NM_001378457.1(DMXL2):c.3862T>C (p.Ser1288Pro)
|
rs12102203
|
0.49370
|
NM_001378457.1(DMXL2):c.7392+171G>C
|
rs11070851
|
0.48192
|
NM_001378457.1(DMXL2):c.27A>G (p.Gly9=)
|
rs2278989
|
0.47808
|
NM_001378457.1(DMXL2):c.81C>T (p.Pro27=)
|
rs2278990
|
0.47740
|
NM_001378457.1(DMXL2):c.8198+51C>T
|
rs11630842
|
0.46714
|
NM_001378457.1(DMXL2):c.8077-22C>T
|
rs7165887
|
0.46698
|
NM_001378457.1(DMXL2):c.8198+94G>A
|
rs11630743
|
0.46695
|
NM_001378457.1(DMXL2):c.2823C>T (p.Asn941=)
|
rs12592889
|
0.46637
|
NM_001378457.1(DMXL2):c.93T>C (p.Tyr31=)
|
rs2414105
|
0.46408
|
NM_001378457.1(DMXL2):c.8968-189G>A
|
rs12593979
|
0.45898
|
NM_001378457.1(DMXL2):c.7606+142C>T
|
rs1080394
|
0.45661
|
NM_001378457.1(DMXL2):c.4784-37C>G
|
rs12101858
|
0.43863
|
NM_001378457.1(DMXL2):c.364+65G>A
|
rs11070857
|
0.38991
|
NM_001378457.1(DMXL2):c.8749+124A>G
|
rs16964357
|
0.23216
|
NM_001378457.1(DMXL2):c.8526+117A>G
|
rs2061425
|
0.19456
|
NM_001378457.1(DMXL2):c.1346-39A>G
|
rs12904173
|
0.18855
|
NM_001378457.1(DMXL2):c.1490C>T (p.Thr497Met)
|
rs17524906
|
0.18836
|
NM_001378457.1(DMXL2):c.5051+23G>A
|
rs17524750
|
0.18767
|
NM_001378457.1(DMXL2):c.8696+137_8696+138del
|
rs76051381
|
0.15756
|
NM_001378457.1(DMXL2):c.*125C>T
|
rs3751585
|
0.15738
|
NM_001378457.1(DMXL2):c.746+107_746+114del
|
rs72283649
|
0.10981
|
NM_001378457.1(DMXL2):c.7393-74_7393-73del
|
rs138473578
|
0.06405
|
NM_001378457.1(DMXL2):c.7213+62T>C
|
rs2271676
|
0.06140
|
NM_001378457.1(DMXL2):c.2314+188C>G
|
rs117763590
|
0.05296
|
NM_001378457.1(DMXL2):c.8199-99A>C
|
rs2271674
|
0.04347
|
NM_001378457.1(DMXL2):c.8338-17A>T
|
rs3736484
|
0.04309
|
NM_001378457.1(DMXL2):c.177A>G (p.Gln59=)
|
rs34998785
|
0.02865
|
NC_000015.10:g.51622992C>T
|
rs1902598
|
0.02379
|
NM_001378457.1(DMXL2):c.8340T>C (p.Leu2780=)
|
rs76659258
|
0.02267
|
NM_001378457.1(DMXL2):c.6756+180G>A
|
rs8025629
|
0.01914
|
NM_001378457.1(DMXL2):c.8526+123T>G
|
rs7180470
|
0.01867
|
NM_001378457.1(DMXL2):c.8527-181A>C
|
rs76919677
|
0.01714
|
NM_001378457.1(DMXL2):c.6408C>A (p.Ala2136=)
|
rs78376092
|
0.01091
|
NM_001378457.1(DMXL2):c.1008C>T (p.Pro336=)
|
rs139211716
|
0.01029
|
NM_001378457.1(DMXL2):c.1491G>C (p.Thr497=)
|
rs114265876
|
0.00972
|
NM_001378457.1(DMXL2):c.430G>C (p.Glu144Gln)
|
rs35097381
|
0.00970
|
NM_001378457.1(DMXL2):c.5976T>A (p.Asp1992Glu)
|
rs148062616
|
0.00932
|
NM_001378457.1(DMXL2):c.7454A>G (p.Asp2485Gly)
|
rs114516513
|
0.00851
|
NM_001378457.1(DMXL2):c.4334T>C (p.Ile1445Thr)
|
rs61995718
|
0.00825
|
NM_001378457.1(DMXL2):c.4442A>G (p.Asp1481Gly)
|
rs35349640
|
0.00789
|
NM_001378457.1(DMXL2):c.2866C>A (p.Pro956Thr)
|
rs74013274
|
0.00687
|
NM_001378457.1(DMXL2):c.2707A>G (p.Asn903Asp)
|
rs16953073
|
0.00576
|
NM_001378457.1(DMXL2):c.6565-11A>G
|
rs146606788
|
0.00493
|
NM_001378457.1(DMXL2):c.3935T>C (p.Val1312Ala)
|
rs142580160
|
0.00406
|
NM_001378457.1(DMXL2):c.5136T>G (p.Ala1712=)
|
rs35347764
|
0.00369
|
NM_001378457.1(DMXL2):c.3887A>G (p.Gln1296Arg)
|
rs139492658
|
0.00350
|
NM_001378457.1(DMXL2):c.368A>G (p.Asn123Ser)
|
rs151034852
|
0.00344
|
NM_001378457.1(DMXL2):c.6965-20G>A
|
rs141108334
|
0.00275
|
NM_001378457.1(DMXL2):c.7542A>G (p.Thr2514=)
|
rs139788071
|
0.00232
|
NM_001378457.1(DMXL2):c.2055A>C (p.Ser685=)
|
rs141558477
|
0.00202
|
NM_001378457.1(DMXL2):c.8169C>T (p.Ile2723=)
|
rs79159118
|
0.00201
|
NM_001378457.1(DMXL2):c.6561A>G (p.Gln2187=)
|
rs73399548
|
0.00200
|
NM_001378457.1(DMXL2):c.3860G>T (p.Ser1287Ile)
|
rs78240149
|
0.00190
|
NM_001378457.1(DMXL2):c.3880G>A (p.Ala1294Thr)
|
rs149666891
|
0.00168
|
NM_001378457.1(DMXL2):c.6046G>A (p.Asp2016Asn)
|
rs146972389
|
0.00163
|
NM_001378457.1(DMXL2):c.4187C>T (p.Ser1396Phe)
|
rs143033674
|
0.00157
|
NM_001378457.1(DMXL2):c.7225C>T (p.Leu2409Phe)
|
rs140921435
|
0.00140
|
NM_001378457.1(DMXL2):c.5946C>T (p.His1982=)
|
rs3751584
|
0.00121
|
NM_001378457.1(DMXL2):c.7071G>A (p.Leu2357=)
|
rs146625172
|
0.00121
|
NM_001378457.1(DMXL2):c.3624G>A (p.Lys1208=)
|
rs143088657
|
0.00106
|
NM_001378457.1(DMXL2):c.1702A>G (p.Ile568Val)
|
rs139285700
|
0.00101
|
NM_001378457.1(DMXL2):c.7213+10G>A
|
rs143174282
|
0.00088
|
NM_001378457.1(DMXL2):c.6166A>C (p.Arg2056=)
|
rs150163605
|
0.00073
|
NM_001378457.1(DMXL2):c.4299A>G (p.Ala1433=)
|
rs149348132
|
0.00068
|
NM_001378457.1(DMXL2):c.3859A>G (p.Ser1287Gly)
|
rs35167754
|
0.00067
|
NM_001378457.1(DMXL2):c.6965-7C>T
|
rs73399542
|
0.00063
|
NM_001378457.1(DMXL2):c.6463C>T (p.Leu2155=)
|
rs145831743
|
0.00058
|
NM_001378457.1(DMXL2):c.7543A>G (p.Met2515Val)
|
rs72729259
|
0.00054
|
NM_001378457.1(DMXL2):c.8697-18dup
|
rs778017577
|
0.00051
|
NM_001378457.1(DMXL2):c.1617+12T>G
|
rs775391613
|
0.00048
|
NM_001378457.1(DMXL2):c.7148C>G (p.Ala2383Gly)
|
rs140233306
|
0.00043
|
NM_001378457.1(DMXL2):c.2096T>C (p.Ile699Thr)
|
rs117017152
|
0.00040
|
NM_001378457.1(DMXL2):c.6438G>A (p.Ser2146=)
|
rs139670739
|
0.00040
|
NM_001378457.1(DMXL2):c.7809-5A>G
|
rs200732334
|
0.00040
|
NM_001378457.1(DMXL2):c.6930C>T (p.His2310=)
|
rs138901067
|
0.00038
|
NM_001378457.1(DMXL2):c.6946T>C (p.Ser2316Pro)
|
rs143148315
|
0.00038
|
NM_001378457.1(DMXL2):c.3949A>G (p.Ile1317Val)
|
rs148766950
|
0.00037
|
NM_001378457.1(DMXL2):c.5340A>T (p.Gln1780His)
|
rs78309240
|
0.00036
|
NM_001378457.1(DMXL2):c.1339G>A (p.Asp447Asn)
|
rs149014761
|
0.00031
|
NM_001378457.1(DMXL2):c.2806G>A (p.Val936Ile)
|
rs139439554
|
0.00030
|
NM_001378457.1(DMXL2):c.4672+13G>A
|
rs202189965
|
0.00029
|
NM_001378457.1(DMXL2):c.1731G>A (p.Thr577=)
|
rs148694560
|
0.00026
|
NM_001378457.1(DMXL2):c.3567G>A (p.Ala1189=)
|
rs201138302
|
0.00026
|
NM_001378457.1(DMXL2):c.9150C>A (p.Ile3050=)
|
rs201934903
|
0.00026
|
NM_001378457.1(DMXL2):c.364+8G>A
|
rs200029287
|
0.00024
|
NM_001378457.1(DMXL2):c.7275C>T (p.Leu2425=)
|
rs374085536
|
0.00024
|
NM_001378457.1(DMXL2):c.861C>T (p.Thr287=)
|
rs146664990
|
0.00024
|
NM_001378457.1(DMXL2):c.9096C>T (p.Ser3032=)
|
rs150017189
|
0.00023
|
NM_001378457.1(DMXL2):c.2251T>C (p.Leu751=)
|
rs879354023
|
0.00021
|
NM_001378457.1(DMXL2):c.6497G>A (p.Gly2166Glu)
|
rs149842282
|
0.00021
|
NM_001378457.1(DMXL2):c.8538G>A (p.Ala2846=)
|
rs151096557
|
0.00021
|
NM_001378457.1(DMXL2):c.7360G>A (p.Glu2454Lys)
|
rs145710046
|
0.00020
|
NM_001378457.1(DMXL2):c.6896G>A (p.Arg2299His)
|
rs200609180
|
0.00019
|
NM_001378457.1(DMXL2):c.1114A>C (p.Asn372His)
|
rs143811213
|
0.00018
|
NM_001378457.1(DMXL2):c.8418C>T (p.Asp2806=)
|
rs373337134
|
0.00018
|
NM_001378457.1(DMXL2):c.231T>C (p.Gly77=)
|
rs142324215
|
0.00017
|
NM_001378457.1(DMXL2):c.4380A>G (p.Thr1460=)
|
rs111450341
|
0.00017
|
NM_001378457.1(DMXL2):c.457G>T (p.Val153Phe)
|
rs138368622
|
0.00017
|
NM_001378457.1(DMXL2):c.3896C>T (p.Ser1299Leu)
|
rs774515934
|
0.00016
|
NM_001378457.1(DMXL2):c.4954-13A>G
|
rs371737302
|
0.00016
|
NM_001378457.1(DMXL2):c.8701G>C (p.Val2901Leu)
|
rs747567052
|
0.00016
|
NM_001378457.1(DMXL2):c.3459A>G (p.Ala1153=)
|
rs146147668
|
0.00014
|
NM_001378457.1(DMXL2):c.4953+5C>G
|
rs367760250
|
0.00014
|
NM_001378457.1(DMXL2):c.5974G>A (p.Asp1992Asn)
|
rs144241909
|
0.00014
|
NM_001378457.1(DMXL2):c.1427C>G (p.Thr476Ser)
|
rs757537450
|
0.00013
|
NM_001378457.1(DMXL2):c.5448G>T (p.Leu1816=)
|
rs557800420
|
0.00013
|
NM_001378457.1(DMXL2):c.2603T>C (p.Met868Thr)
|
rs139597576
|
0.00012
|
NM_001378457.1(DMXL2):c.2109G>A (p.Ser703=)
|
rs141206641
|
0.00011
|
NM_001378457.1(DMXL2):c.2508C>T (p.Leu836=)
|
rs145547072
|
0.00011
|
NM_001378457.1(DMXL2):c.5052-11T>C
|
rs771740440
|
0.00011
|
NM_001378457.1(DMXL2):c.8399-8T>G
|
rs370064925
|
0.00011
|
NM_001378457.1(DMXL2):c.1290T>G (p.Asp430Glu)
|
rs775660410
|
0.00010
|
NM_001378457.1(DMXL2):c.1095C>T (p.Asn365=)
|
rs148151320
|
0.00009
|
NM_001378457.1(DMXL2):c.1730C>T (p.Thr577Met)
|
rs142203983
|
0.00009
|
NM_001378457.1(DMXL2):c.6376C>T (p.Arg2126Cys)
|
rs143448138
|
0.00009
|
NM_001378457.1(DMXL2):c.7420G>C (p.Val2474Leu)
|
rs144695767
|
0.00009
|
NM_001378457.1(DMXL2):c.8691C>T (p.Asp2897=)
|
rs368467532
|
0.00009
|
NM_001378457.1(DMXL2):c.9163C>T (p.Leu3055Phe)
|
rs139139263
|
0.00009
|
NM_001378457.1(DMXL2):c.2136T>G (p.Thr712=)
|
rs752442992
|
0.00008
|
NM_001378457.1(DMXL2):c.4931C>T (p.Thr1644Met)
|
rs375484629
|
0.00007
|
NM_001378457.1(DMXL2):c.7990G>C (p.Val2664Leu)
|
rs745532251
|
0.00007
|
NM_001378457.1(DMXL2):c.812C>G (p.Thr271Ser)
|
rs563619175
|
0.00007
|
NM_001378457.1(DMXL2):c.1687A>G (p.Met563Val)
|
rs772129232
|
0.00006
|
NM_001378457.1(DMXL2):c.2115A>G (p.Gln705=)
|
rs749067748
|
0.00006
|
NM_001378457.1(DMXL2):c.3102C>A (p.Asn1034Lys)
|
rs375142338
|
0.00006
|
NM_001378457.1(DMXL2):c.6984T>C (p.Asn2328=)
|
rs566873822
|
0.00006
|
NM_001378457.1(DMXL2):c.213+20T>C
|
rs749038034
|
0.00005
|
NM_001378457.1(DMXL2):c.2388A>G (p.Val796=)
|
rs759617424
|
0.00005
|
NM_001378457.1(DMXL2):c.3982A>G (p.Ile1328Val)
|
rs761335663
|
0.00005
|
NM_001378457.1(DMXL2):c.5061T>C (p.His1687=)
|
rs745907142
|
0.00005
|
NM_001378457.1(DMXL2):c.660C>T (p.Ser220=)
|
rs1019612334
|
0.00005
|
NM_001378457.1(DMXL2):c.6834-11A>G
|
rs577551247
|
0.00005
|
NM_001378457.1(DMXL2):c.8035C>T (p.His2679Tyr)
|
rs199806210
|
0.00005
|
NM_001378457.1(DMXL2):c.1682A>G (p.Asn561Ser)
|
rs750656460
|
0.00004
|
NM_001378457.1(DMXL2):c.1922C>G (p.Ser641Cys)
|
rs113890461
|
0.00004
|
NM_001378457.1(DMXL2):c.2526+15G>A
|
rs764104999
|
0.00004
|
NM_001378457.1(DMXL2):c.3104C>G (p.Pro1035Arg)
|
rs372199887
|
0.00004
|
NM_001378457.1(DMXL2):c.3108G>T (p.Glu1036Asp)
|
rs376728796
|
0.00004
|
NM_001378457.1(DMXL2):c.3367A>G (p.Ile1123Val)
|
rs749622472
|
0.00004
|
NM_001378457.1(DMXL2):c.4953+7T>C
|
rs749132591
|
0.00004
|
NM_001378457.1(DMXL2):c.4966T>G (p.Ser1656Ala)
|
rs748052252
|
0.00004
|
NM_001378457.1(DMXL2):c.6367T>G (p.Ser2123Ala)
|
rs150924530
|
0.00004
|
NM_001378457.1(DMXL2):c.7047T>G (p.Val2349=)
|
rs143144405
|
0.00004
|
NM_001378457.1(DMXL2):c.7769G>A (p.Arg2590Gln)
|
rs910460840
|
0.00004
|
NM_001378457.1(DMXL2):c.1235G>A (p.Arg412Gln)
|
rs201307767
|
0.00003
|
NM_001378457.1(DMXL2):c.1464G>T (p.Thr488=)
|
rs776657525
|
0.00003
|
NM_001378457.1(DMXL2):c.3347A>G (p.Glu1116Gly)
|
rs370563573
|
0.00003
|
NM_001378457.1(DMXL2):c.4436C>T (p.Thr1479Met)
|
rs774209955
|
0.00003
|
NM_001378457.1(DMXL2):c.6889A>G (p.Ser2297Gly)
|
rs377682060
|
0.00003
|
NM_001378457.1(DMXL2):c.7250G>A (p.Arg2417His)
|
rs754786373
|
0.00003
|
NM_001378457.1(DMXL2):c.7392+9T>C
|
rs374828630
|
0.00003
|
NM_001378457.1(DMXL2):c.8025G>A (p.Ala2675=)
|
rs748012247
|
0.00003
|
NM_001378457.1(DMXL2):c.8195A>G (p.Lys2732Arg)
|
rs767565572
|
0.00003
|
NM_001378457.1(DMXL2):c.8746C>T (p.His2916Tyr)
|
rs749578324
|
0.00003
|
NM_001378457.1(DMXL2):c.9044T>C (p.Ile3015Thr)
|
rs555894284
|
0.00003
|
NM_001378457.1(DMXL2):c.110T>C (p.Ile37Thr)
|
rs754558170
|
0.00002
|
NM_001378457.1(DMXL2):c.1278A>G (p.Ala426=)
|
rs554788458
|
0.00002
|
NM_001378457.1(DMXL2):c.213+4A>T
|
rs1317865985
|
0.00002
|
NM_001378457.1(DMXL2):c.2644+7T>C
|
rs370072037
|
0.00002
|
NM_001378457.1(DMXL2):c.2864T>C (p.Met955Thr)
|
rs766782558
|
0.00002
|
NM_001378457.1(DMXL2):c.3667A>C (p.Lys1223Gln)
|
rs781647659
|
0.00002
|
NM_001378457.1(DMXL2):c.4995T>G (p.Asp1665Glu)
|
rs545604038
|
0.00002
|
NM_001378457.1(DMXL2):c.6014A>G (p.Glu2005Gly)
|
rs1448308171
|
0.00002
|
NM_001378457.1(DMXL2):c.6040G>C (p.Ala2014Pro)
|
rs199547673
|
0.00002
|
NM_001378457.1(DMXL2):c.7312C>T (p.Pro2438Ser)
|
rs142404836
|
0.00002
|
NM_001378457.1(DMXL2):c.7565A>G (p.Asn2522Ser)
|
rs774081788
|
0.00002
|
NM_001378457.1(DMXL2):c.7703C>A (p.Pro2568Gln)
|
rs746177867
|
0.00002
|
NM_001378457.1(DMXL2):c.8446C>T (p.Arg2816Trp)
|
rs749487323
|
0.00002
|
NM_001378457.1(DMXL2):c.1105+12A>C
|
rs368010687
|
0.00001
|
NM_001378457.1(DMXL2):c.1436G>A (p.Arg479Gln)
|
rs1331583394
|
0.00001
|
NM_001378457.1(DMXL2):c.2019T>C (p.Ala673=)
|
rs370202198
|
0.00001
|
NM_001378457.1(DMXL2):c.2041T>G (p.Cys681Gly)
|
rs201747716
|
0.00001
|
NM_001378457.1(DMXL2):c.2064A>G (p.Lys688=)
|
rs376949761
|
0.00001
|
NM_001378457.1(DMXL2):c.2099A>G (p.Lys700Arg)
|
rs763416367
|
0.00001
|
NM_001378457.1(DMXL2):c.212G>C (p.Arg71Thr)
|
rs374560525
|
0.00001
|
NM_001378457.1(DMXL2):c.225A>G (p.Ser75=)
|
rs760608162
|
0.00001
|
NM_001378457.1(DMXL2):c.2486G>A (p.Arg829Gln)
|
rs773900028
|
0.00001
|
NM_001378457.1(DMXL2):c.2526+9A>G
|
rs912831110
|
0.00001
|
NM_001378457.1(DMXL2):c.2608A>G (p.Lys870Glu)
|
rs765925991
|
0.00001
|
NM_001378457.1(DMXL2):c.2765-19T>G
|
rs377149205
|
0.00001
|
NM_001378457.1(DMXL2):c.2881A>G (p.Ile961Val)
|
rs750559484
|
0.00001
|
NM_001378457.1(DMXL2):c.3141T>C (p.His1047=)
|
rs746493304
|
0.00001
|
NM_001378457.1(DMXL2):c.3635C>T (p.Ala1212Val)
|
rs138187723
|
0.00001
|
NM_001378457.1(DMXL2):c.3819G>A (p.Gln1273=)
|
rs779202019
|
0.00001
|
NM_001378457.1(DMXL2):c.3922A>G (p.Arg1308Gly)
|
rs779889954
|
0.00001
|
NM_001378457.1(DMXL2):c.3932T>G (p.Val1311Gly)
|
rs758029703
|
0.00001
|
NM_001378457.1(DMXL2):c.4016T>G (p.Val1339Gly)
|
rs200839633
|
0.00001
|
NM_001378457.1(DMXL2):c.4135G>A (p.Val1379Ile)
|
rs928589877
|
0.00001
|
NM_001378457.1(DMXL2):c.4410G>A (p.Glu1470=)
|
rs1166462667
|
0.00001
|
NM_001378457.1(DMXL2):c.4437G>A (p.Thr1479=)
|
rs183800427
|
0.00001
|
NM_001378457.1(DMXL2):c.5018T>C (p.Met1673Thr)
|
rs756526278
|
0.00001
|
NM_001378457.1(DMXL2):c.5052-10C>T
|
rs1159592412
|
0.00001
|
NM_001378457.1(DMXL2):c.5135C>G (p.Ala1712Gly)
|
rs372749193
|
0.00001
|
NM_001378457.1(DMXL2):c.5159G>A (p.Arg1720His)
|
rs545336146
|
0.00001
|
NM_001378457.1(DMXL2):c.5286T>G (p.Phe1762Leu)
|
rs974469060
|
0.00001
|
NM_001378457.1(DMXL2):c.5451A>G (p.Glu1817=)
|
rs777925964
|
0.00001
|
NM_001378457.1(DMXL2):c.5482+8G>A
|
rs766231528
|
0.00001
|
NM_001378457.1(DMXL2):c.5616C>T (p.Asn1872=)
|
rs1339825061
|
0.00001
|
NM_001378457.1(DMXL2):c.568-13A>G
|
rs200368899
|
0.00001
|
NM_001378457.1(DMXL2):c.5836G>A (p.Gly1946Arg)
|
rs770842272
|
0.00001
|
NM_001378457.1(DMXL2):c.5949C>T (p.Asp1983=)
|
rs780795858
|
0.00001
|
NM_001378457.1(DMXL2):c.619A>G (p.Ile207Val)
|
rs150515203
|
0.00001
|
NM_001378457.1(DMXL2):c.6400T>C (p.Leu2134=)
|
rs1353816985
|
0.00001
|
NM_001378457.1(DMXL2):c.6692A>G (p.His2231Arg)
|
rs756919423
|
0.00001
|
NM_001378457.1(DMXL2):c.6756+8A>G
|
rs946016300
|
0.00001
|
NM_001378457.1(DMXL2):c.6953C>T (p.Ala2318Val)
|
rs2041603102
|
0.00001
|
NM_001378457.1(DMXL2):c.7112G>A (p.Arg2371Gln)
|
rs760199215
|
0.00001
|
NM_001378457.1(DMXL2):c.7178T>G (p.Val2393Gly)
|
rs1169208650
|
0.00001
|
NM_001378457.1(DMXL2):c.7190G>A (p.Arg2397Gln)
|
rs202019976
|
0.00001
|
NM_001378457.1(DMXL2):c.7214-12A>G
|
rs762316218
|
0.00001
|
NM_001378457.1(DMXL2):c.746+18T>C
|
rs775519138
|
0.00001
|
NM_001378457.1(DMXL2):c.7557A>G (p.Ala2519=)
|
rs759524189
|
0.00001
|
NM_001378457.1(DMXL2):c.7717A>G (p.Ile2573Val)
|
rs202154593
|
0.00001
|
NM_001378457.1(DMXL2):c.798G>A (p.Arg266=)
|
rs748927947
|
0.00001
|
NM_001378457.1(DMXL2):c.7990-9dup
|
rs757400385
|
0.00001
|
NM_001378457.1(DMXL2):c.8034C>T (p.Ile2678=)
|
rs1211279672
|
0.00001
|
NM_001378457.1(DMXL2):c.8199-5C>T
|
rs781703939
|
0.00001
|
NM_001378457.1(DMXL2):c.8338-6T>C
|
rs1167513388
|
0.00001
|
NM_001378457.1(DMXL2):c.8399-14del
|
rs555921038
|
0.00001
|
NM_001378457.1(DMXL2):c.8406A>T (p.Thr2802=)
|
rs750197901
|
0.00001
|
NM_001378457.1(DMXL2):c.8550T>A (p.Gly2850=)
|
rs754554055
|
0.00001
|
NM_001378457.1(DMXL2):c.8718A>G (p.Thr2906=)
|
rs1341645453
|
0.00001
|
NM_001378457.1(DMXL2):c.9174A>G (p.Leu3058=)
|
rs533771747
|
0.00001
|
NM_001378457.1(DMXL2):c.928G>C (p.Glu310Gln)
|
rs2048843609
|
0.00001
|
NM_001378457.1(DMXL2):c.942T>C (p.His314=)
|
rs575530325
|
0.00001
|
NM_001378457.1(DMXL2):c.981T>G (p.Val327=)
|
rs762778607
|
0.00001
|
GRCh37/hg19 15q21.2(chr15:51708028-51874928)x3
|
|
|
GRCh37/hg19 15q21.2(chr15:51717028-51792612)x3
|
|
|
NC_000015.10:g.51451683_51451698del
|
|
|
NC_000015.9:g.(?_51741181)_(51787351_?)dup
|
|
|
NC_000015.9:g.(?_51741181)_(51792448_?)dup
|
|
|
NC_000015.9:g.(?_51745727)_(51745858_?)del
|
|
|
NC_000015.9:g.(?_51745727)_(51914742_?)dup
|
|
|
NC_000015.9:g.(?_51755556)_(51773840_?)del
|
|
|
NC_000015.9:g.(?_51755556)_(51773840_?)dup
|
|
|
NC_000015.9:g.(?_51837760)_(51839625_?)del
|
|
|
NC_000015.9:g.(?_51855558)_(51868398_?)dup
|
|
|
NC_000015.9:g.(?_51856302)_(51914742_?)dup
|
|
|
NM_001378457.1(DMXL2):c.1009G>A (p.Asp337Asn)
|
|
|
NM_001378457.1(DMXL2):c.1016C>T (p.Thr339Ile)
|
|
|
NM_001378457.1(DMXL2):c.1021A>G (p.Met341Val)
|
|
|
NM_001378457.1(DMXL2):c.1024C>A (p.His342Asn)
|
|
|
NM_001378457.1(DMXL2):c.1035A>G (p.Gln345=)
|
|
|
NM_001378457.1(DMXL2):c.1056A>C (p.Ala352=)
|
|
|
NM_001378457.1(DMXL2):c.1057A>G (p.Asn353Asp)
|
|
|
NM_001378457.1(DMXL2):c.1061C>G (p.Ala354Gly)
|
|
|
NM_001378457.1(DMXL2):c.1065C>T (p.Leu355=)
|
|
|
NM_001378457.1(DMXL2):c.1075C>A (p.His359Asn)
|
rs2140914010
|
|
NM_001378457.1(DMXL2):c.1094A>G (p.Asn365Ser)
|
|
|
NM_001378457.1(DMXL2):c.109A>C (p.Ile37Leu)
|
|
|
NM_001378457.1(DMXL2):c.1105+15T>C
|
|
|
NM_001378457.1(DMXL2):c.1105+6G>T
|
|
|
NM_001378457.1(DMXL2):c.1105+8A>G
|
|
|
NM_001378457.1(DMXL2):c.1106-15_1106-14del
|
|
|
NM_001378457.1(DMXL2):c.1108A>G (p.Ile370Val)
|
|
|
NM_001378457.1(DMXL2):c.1119C>G (p.Val373=)
|
|
|
NM_001378457.1(DMXL2):c.1128C>T (p.Gly376=)
|
|
|
NM_001378457.1(DMXL2):c.1147G>T (p.Asp383Tyr)
|
|
|
NM_001378457.1(DMXL2):c.1155T>C (p.Asn385=)
|
|
|
NM_001378457.1(DMXL2):c.1161C>T (p.Gly387=)
|
|
|
NM_001378457.1(DMXL2):c.1182C>T (p.Asn394=)
|
|
|
NM_001378457.1(DMXL2):c.1198T>C (p.Phe400Leu)
|
|
|
NM_001378457.1(DMXL2):c.1206A>G (p.Ser402=)
|
|
|
NM_001378457.1(DMXL2):c.1217T>C (p.Val406Ala)
|
|
|
NM_001378457.1(DMXL2):c.1219T>G (p.Phe407Val)
|
|
|
NM_001378457.1(DMXL2):c.1243T>G (p.Ser415Ala)
|
|
|
NM_001378457.1(DMXL2):c.1251G>A (p.Lys417=)
|
|
|
NM_001378457.1(DMXL2):c.1262A>T (p.His421Leu)
|
|
|
NM_001378457.1(DMXL2):c.1271A>G (p.Asp424Gly)
|
|
|
NM_001378457.1(DMXL2):c.1279G>A (p.Asp427Asn)
|
|
|
NM_001378457.1(DMXL2):c.1280A>G (p.Asp427Gly)
|
|
|
NM_001378457.1(DMXL2):c.1293G>A (p.Glu431=)
|
|
|
NM_001378457.1(DMXL2):c.1308G>T (p.Glu436Asp)
|
|
|
NM_001378457.1(DMXL2):c.1315G>T (p.Glu439Ter)
|
|
|
NM_001378457.1(DMXL2):c.1318C>T (p.Arg440Trp)
|
|
|
NM_001378457.1(DMXL2):c.1322G>T (p.Gly441Val)
|
|
|
NM_001378457.1(DMXL2):c.1328A>G (p.His443Arg)
|
|
|
NM_001378457.1(DMXL2):c.1330A>G (p.Met444Val)
|
|
|
NM_001378457.1(DMXL2):c.1345+11T>A
|
|
|
NM_001378457.1(DMXL2):c.1345+14G>A
|
|
|
NM_001378457.1(DMXL2):c.1345+17C>G
|
|
|
NM_001378457.1(DMXL2):c.1346-15T>C
|
|
|
NM_001378457.1(DMXL2):c.1346-15T>G
|
|
|
NM_001378457.1(DMXL2):c.1346-18A>G
|
|
|
NM_001378457.1(DMXL2):c.1346-4T>G
|
rs2048363133
|
|
NM_001378457.1(DMXL2):c.1346-5T>C
|
|
|
NM_001378457.1(DMXL2):c.1346-7G>C
|
rs772097137
|
|
NM_001378457.1(DMXL2):c.1346-8T>C
|
rs2140887548
|
|
NM_001378457.1(DMXL2):c.1353C>T (p.Ser451=)
|
|
|
NM_001378457.1(DMXL2):c.1370A>C (p.Glu457Ala)
|
|
|
NM_001378457.1(DMXL2):c.1378A>G (p.Thr460Ala)
|
|
|
NM_001378457.1(DMXL2):c.1386A>G (p.Ser462=)
|
|
|
NM_001378457.1(DMXL2):c.1410A>G (p.Arg470=)
|
|
|
NM_001378457.1(DMXL2):c.141A>G (p.Val47=)
|
|
|
NM_001378457.1(DMXL2):c.141A>T (p.Val47=)
|
|
|
NM_001378457.1(DMXL2):c.1421C>T (p.Pro474Leu)
|
|
|
NM_001378457.1(DMXL2):c.1438C>T (p.Leu480Phe)
|
|
|
NM_001378457.1(DMXL2):c.1456C>T (p.Leu486=)
|
|
|
NM_001378457.1(DMXL2):c.1463C>T (p.Thr488Met)
|
|
|
NM_001378457.1(DMXL2):c.1477C>A (p.Arg493=)
|
|
|
NM_001378457.1(DMXL2):c.1477C>T (p.Arg493Trp)
|
|
|
NM_001378457.1(DMXL2):c.1478G>A (p.Arg493Gln)
|
|
|
NM_001378457.1(DMXL2):c.1491G>A (p.Thr497=)
|
rs114265876
|
|
NM_001378457.1(DMXL2):c.1519_1520insGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATCCTG (p.Asp507fs)
|
|
|
NM_001378457.1(DMXL2):c.1523T>A (p.Met508Lys)
|
|
|
NM_001378457.1(DMXL2):c.1534A>G (p.Ile512Val)
|
|
|
NM_001378457.1(DMXL2):c.1535T>C (p.Ile512Thr)
|
|
|
NM_001378457.1(DMXL2):c.1537C>T (p.His513Tyr)
|
rs753093141
|
|
NM_001378457.1(DMXL2):c.1539C>G (p.His513Gln)
|
|
|
NM_001378457.1(DMXL2):c.1539C>T (p.His513=)
|
|
|
NM_001378457.1(DMXL2):c.1558C>T (p.Leu520=)
|
|
|
NM_001378457.1(DMXL2):c.1563G>A (p.Val521=)
|
|
|
NM_001378457.1(DMXL2):c.159T>A (p.Ala53=)
|
|
|
NM_001378457.1(DMXL2):c.1611A>G (p.Gln537=)
|
|
|
NM_001378457.1(DMXL2):c.1617+10A>G
|
|
|
NM_001378457.1(DMXL2):c.1617+13G>C
|
|
|
NM_001378457.1(DMXL2):c.1617+18A>C
|
|
|
NM_001378457.1(DMXL2):c.1617+19A>G
|
|
|
NM_001378457.1(DMXL2):c.1617+20T>C
|
|
|
NM_001378457.1(DMXL2):c.1617+4T>C
|
|
|
NM_001378457.1(DMXL2):c.1617+7T>C
|
|
|
NM_001378457.1(DMXL2):c.1618-10T>A
|
|
|
NM_001378457.1(DMXL2):c.1618-17A>G
|
|
|
NM_001378457.1(DMXL2):c.1618-19A>G
|
|
|
NM_001378457.1(DMXL2):c.1618-4T>G
|
|
|
NM_001378457.1(DMXL2):c.1623T>A (p.Ser541=)
|
|
|
NM_001378457.1(DMXL2):c.1631C>T (p.Ser544Phe)
|
|
|
NM_001378457.1(DMXL2):c.1634G>A (p.Arg545Gln)
|
|
|
NM_001378457.1(DMXL2):c.1642G>A (p.Val548Ile)
|
|
|
NM_001378457.1(DMXL2):c.1654T>C (p.Ser552Pro)
|
|
|
NM_001378457.1(DMXL2):c.1662T>C (p.Asp554=)
|
|
|
NM_001378457.1(DMXL2):c.1663G>A (p.Ala555Thr)
|
rs2140881682
|
|
NM_001378457.1(DMXL2):c.1709C>G (p.Ala570Gly)
|
|
|
NM_001378457.1(DMXL2):c.1711A>G (p.Thr571Ala)
|
|
|
NM_001378457.1(DMXL2):c.1721C>G (p.Ser574Cys)
|
|
|
NM_001378457.1(DMXL2):c.1721C>T (p.Ser574Phe)
|
|
|
NM_001378457.1(DMXL2):c.1725C>T (p.His575=)
|
|
|
NM_001378457.1(DMXL2):c.173T>G (p.Ile58Ser)
|
|
|
NM_001378457.1(DMXL2):c.1740C>G (p.His580Gln)
|
|
|
NM_001378457.1(DMXL2):c.1748G>T (p.Gly583Val)
|
|
|
NM_001378457.1(DMXL2):c.1766C>T (p.Pro589Leu)
|
|
|
NM_001378457.1(DMXL2):c.1770C>T (p.His590=)
|
|
|
NM_001378457.1(DMXL2):c.1771G>A (p.Gly591Arg)
|
|
|
NM_001378457.1(DMXL2):c.1776A>C (p.Ser592=)
|
|
|
NM_001378457.1(DMXL2):c.1787C>G (p.Ser596Cys)
|
rs143850714
|
|
NM_001378457.1(DMXL2):c.1791A>G (p.Arg597=)
|
|
|
NM_001378457.1(DMXL2):c.1794C>T (p.Ser598=)
|
|
|
NM_001378457.1(DMXL2):c.1807A>G (p.Met603Val)
|
|
|
NM_001378457.1(DMXL2):c.1808T>C (p.Met603Thr)
|
|
|
NM_001378457.1(DMXL2):c.1815C>T (p.Ile605=)
|
|
|
NM_001378457.1(DMXL2):c.1840T>C (p.Ser614Pro)
|
|
|
NM_001378457.1(DMXL2):c.1845A>G (p.Lys615=)
|
|
|
NM_001378457.1(DMXL2):c.1845_1853dup (p.Ile617_Asp618insGluHisIle)
|
rs1469022960
|
|
NM_001378457.1(DMXL2):c.1849A>G (p.Ile617Val)
|
|
|
NM_001378457.1(DMXL2):c.1855G>C (p.Gly619Arg)
|
|
|
NM_001378457.1(DMXL2):c.1869G>A (p.Gln623=)
|
|
|
NM_001378457.1(DMXL2):c.1873G>T (p.Ala625Ser)
|
|
|
NM_001378457.1(DMXL2):c.1878C>T (p.Val626=)
|
|
|
NM_001378457.1(DMXL2):c.1893G>A (p.Lys631=)
|
|
|
NM_001378457.1(DMXL2):c.1895C>G (p.Ser632Cys)
|
rs147376349
|
|
NM_001378457.1(DMXL2):c.1896T>A (p.Ser632=)
|
|
|
NM_001378457.1(DMXL2):c.1898C>A (p.Ala633Asp)
|
|
|
NM_001378457.1(DMXL2):c.189G>T (p.Val63=)
|
|
|
NM_001378457.1(DMXL2):c.18C>G (p.Val6=)
|
|
|
NM_001378457.1(DMXL2):c.1909G>C (p.Val637Leu)
|
|
|
NM_001378457.1(DMXL2):c.1911T>C (p.Val637=)
|
|
|
NM_001378457.1(DMXL2):c.1912C>G (p.Leu638Val)
|
|
|
NM_001378457.1(DMXL2):c.1929A>G (p.Lys643=)
|
|
|
NM_001378457.1(DMXL2):c.192G>A (p.Glu64=)
|
|
|
NM_001378457.1(DMXL2):c.1938T>C (p.Tyr646=)
|
|
|
NM_001378457.1(DMXL2):c.1941C>T (p.Cys647=)
|
|
|
NM_001378457.1(DMXL2):c.1942G>A (p.Gly648Ser)
|
|
|
NM_001378457.1(DMXL2):c.1961A>G (p.Asn654Ser)
|
|
|
NM_001378457.1(DMXL2):c.1979C>T (p.Ser660Leu)
|
|
|
NM_001378457.1(DMXL2):c.1989A>G (p.Pro663=)
|
|
|
NM_001378457.1(DMXL2):c.1990C>T (p.Leu664=)
|
|
|
NM_001378457.1(DMXL2):c.1993T>C (p.Leu665=)
|
|
|
NM_001378457.1(DMXL2):c.1993T>G (p.Leu665Val)
|
rs200046847
|
|
NM_001378457.1(DMXL2):c.1996T>C (p.Leu666=)
|
|
|
NM_001378457.1(DMXL2):c.199A>G (p.Asn67Asp)
|
|
|
NM_001378457.1(DMXL2):c.2004C>T (p.Ser668=)
|
|
|
NM_001378457.1(DMXL2):c.2008C>T (p.His670Tyr)
|
|
|
NM_001378457.1(DMXL2):c.2013T>C (p.His671=)
|
|
|
NM_001378457.1(DMXL2):c.201C>G (p.Asn67Lys)
|
|
|
NM_001378457.1(DMXL2):c.2020C>G (p.Leu674Val)
|
|
|
NM_001378457.1(DMXL2):c.2022A>G (p.Leu674=)
|
|
|
NM_001378457.1(DMXL2):c.2027C>T (p.Thr676Ile)
|
|
|
NM_001378457.1(DMXL2):c.2029C>T (p.Pro677Ser)
|
|
|
NM_001378457.1(DMXL2):c.203A>C (p.Gln68Pro)
|
|
|
NM_001378457.1(DMXL2):c.2065T>C (p.Leu689=)
|
|
|
NM_001378457.1(DMXL2):c.2082C>T (p.Asp694=)
|
|
|
NM_001378457.1(DMXL2):c.2083C>T (p.Pro695Ser)
|
|
|
NM_001378457.1(DMXL2):c.2087T>G (p.Val696Gly)
|
|
|
NM_001378457.1(DMXL2):c.2102G>C (p.Gly701Ala)
|
|
|
NM_001378457.1(DMXL2):c.2102G>T (p.Gly701Val)
|
|
|
NM_001378457.1(DMXL2):c.2108C>T (p.Ser703Leu)
|
|
|
NM_001378457.1(DMXL2):c.2114A>C (p.Gln705Pro)
|
|
|
NM_001378457.1(DMXL2):c.213+12A>C
|
|
|
NM_001378457.1(DMXL2):c.213+17C>A
|
|
|
NM_001378457.1(DMXL2):c.213+19T>G
|
|
|
NM_001378457.1(DMXL2):c.213+4A>G
|
|
|
NM_001378457.1(DMXL2):c.2137C>T (p.Arg713Cys)
|
|
|
NM_001378457.1(DMXL2):c.2138G>A (p.Arg713His)
|
|
|
NM_001378457.1(DMXL2):c.2139T>G (p.Arg713=)
|
|
|
NM_001378457.1(DMXL2):c.214-18G>A
|
|
|
NM_001378457.1(DMXL2):c.2142A>G (p.Thr714=)
|
|
|
NM_001378457.1(DMXL2):c.2153C>T (p.Pro718Leu)
|
|
|
NM_001378457.1(DMXL2):c.2161A>G (p.Ile721Val)
|
|
|
NM_001378457.1(DMXL2):c.2163C>A (p.Ile721=)
|
|
|
NM_001378457.1(DMXL2):c.2165A>G (p.Tyr722Cys)
|
|
|
NM_001378457.1(DMXL2):c.2186G>A (p.Arg729His)
|
|
|
NM_001378457.1(DMXL2):c.2190A>G (p.Val730=)
|
|
|
NM_001378457.1(DMXL2):c.2193C>T (p.Asp731=)
|
|
|
NM_001378457.1(DMXL2):c.2195C>T (p.Pro732Leu)
|
|
|
NM_001378457.1(DMXL2):c.2196A>G (p.Pro732=)
|
|
|
NM_001378457.1(DMXL2):c.219A>C (p.Ala73=)
|
|
|
NM_001378457.1(DMXL2):c.21C>T (p.Leu7=)
|
|
|
NM_001378457.1(DMXL2):c.2210C>T (p.Ser737Leu)
|
|
|
NM_001378457.1(DMXL2):c.2215A>G (p.Thr739Ala)
|
|
|
NM_001378457.1(DMXL2):c.2223A>G (p.Gly741=)
|
rs1176070509
|
|
NM_001378457.1(DMXL2):c.222T>C (p.Ala74=)
|
|
|
NM_001378457.1(DMXL2):c.2241A>G (p.Arg747=)
|
|
|
NM_001378457.1(DMXL2):c.2255A>G (p.His752Arg)
|
rs2048280186
|
|
NM_001378457.1(DMXL2):c.2259C>T (p.Thr753=)
|
|
|
NM_001378457.1(DMXL2):c.2262A>C (p.Ser754=)
|
|
|
NM_001378457.1(DMXL2):c.2262A>G (p.Ser754=)
|
|
|
NM_001378457.1(DMXL2):c.2265G>A (p.Ala755=)
|
|
|
NM_001378457.1(DMXL2):c.2274T>C (p.Asn758=)
|
|
|
NM_001378457.1(DMXL2):c.2310T>C (p.Cys770=)
|
|
|
NM_001378457.1(DMXL2):c.2313A>G (p.Leu771=)
|
|
|
NM_001378457.1(DMXL2):c.2314+11A>G
|
|
|
NM_001378457.1(DMXL2):c.2314+18T>C
|
|
|
NM_001378457.1(DMXL2):c.2314+4A>G
|
|
|
NM_001378457.1(DMXL2):c.2314+6T>C
|
|
|
NM_001378457.1(DMXL2):c.2314+6T>G
|
|
|
NM_001378457.1(DMXL2):c.2315-18C>T
|
|
|
NM_001378457.1(DMXL2):c.2315-20G>A
|
|
|
NM_001378457.1(DMXL2):c.2327A>G (p.Asn776Ser)
|
|
|
NM_001378457.1(DMXL2):c.2343C>T (p.Cys781=)
|
|
|
NM_001378457.1(DMXL2):c.2350G>T (p.Ala784Ser)
|
|
|
NM_001378457.1(DMXL2):c.2355T>C (p.Ser785=)
|
|
|
NM_001378457.1(DMXL2):c.2368C>T (p.Leu790=)
|
|
|
NM_001378457.1(DMXL2):c.2370G>A (p.Leu790=)
|
|
|
NM_001378457.1(DMXL2):c.23C>G (p.Thr8Ser)
|
rs75378828
|
|
NM_001378457.1(DMXL2):c.2418G>T (p.Leu806Phe)
|
|
|
NM_001378457.1(DMXL2):c.2424C>T (p.Asp808=)
|
|
|
NM_001378457.1(DMXL2):c.2427A>C (p.Pro809=)
|
|
|
NM_001378457.1(DMXL2):c.2427A>G (p.Pro809=)
|
|
|
NM_001378457.1(DMXL2):c.2436+14_2436+16del
|
|
|
NM_001378457.1(DMXL2):c.2436+15A>T
|
|
|
NM_001378457.1(DMXL2):c.2436+18T>G
|
|
|
NM_001378457.1(DMXL2):c.2436+4_2436+7del
|
|
|
NM_001378457.1(DMXL2):c.2437-17G>A
|
|
|
NM_001378457.1(DMXL2):c.2437-4A>G
|
rs2140677190
|
|
NM_001378457.1(DMXL2):c.2437-9T>A
|
|
|
NM_001378457.1(DMXL2):c.2443A>T (p.Ile815Phe)
|
|
|
NM_001378457.1(DMXL2):c.2444T>C (p.Ile815Thr)
|
|
|
NM_001378457.1(DMXL2):c.244A>G (p.Ile82Val)
|
|
|
NM_001378457.1(DMXL2):c.2457dup (p.Asn820Ter)
|
|
|
NM_001378457.1(DMXL2):c.2463T>C (p.Ile821=)
|
|
|
NM_001378457.1(DMXL2):c.2466G>T (p.Val822=)
|
|
|
NM_001378457.1(DMXL2):c.2481T>G (p.Thr827=)
|
|
|
NM_001378457.1(DMXL2):c.2485C>T (p.Arg829Ter)
|
|
|
NM_001378457.1(DMXL2):c.2488C>G (p.Pro830Ala)
|
|
|
NM_001378457.1(DMXL2):c.2493C>T (p.Gly831=)
|
|
|
NM_001378457.1(DMXL2):c.2497A>G (p.Ile833Val)
|
|
|
NM_001378457.1(DMXL2):c.2502T>G (p.Ile834Met)
|
|
|
NM_001378457.1(DMXL2):c.2506C>T (p.Leu836Phe)
|
|
|
NM_001378457.1(DMXL2):c.2512G>A (p.Ala838Thr)
|
|
|
NM_001378457.1(DMXL2):c.2515A>G (p.Ile839Val)
|
|
|
NM_001378457.1(DMXL2):c.2526+12C>T
|
|
|
NM_001378457.1(DMXL2):c.2526+14T>C
|
|
|
NM_001378457.1(DMXL2):c.2526+7A>G
|
|
|
NM_001378457.1(DMXL2):c.2526+8C>A
|
rs374431723
|
|
NM_001378457.1(DMXL2):c.2526+8C>T
|
|
|
NM_001378457.1(DMXL2):c.2527-11T>G
|
|
|
NM_001378457.1(DMXL2):c.2527-11del
|
|
|
NM_001378457.1(DMXL2):c.2527-11dup
|
rs199971472
|
|
NM_001378457.1(DMXL2):c.2527-20A>G
|
|
|
NM_001378457.1(DMXL2):c.2527-20A>T
|
|
|
NM_001378457.1(DMXL2):c.2527-7T>A
|
|
|
NM_001378457.1(DMXL2):c.2527-9T>G
|
|
|
NM_001378457.1(DMXL2):c.252G>C (p.Glu84Asp)
|
|
|
NM_001378457.1(DMXL2):c.2544G>A (p.Gln848=)
|
|
|
NM_001378457.1(DMXL2):c.2576T>C (p.Ile859Thr)
|
|
|
NM_001378457.1(DMXL2):c.257T>C (p.Leu86Ser)
|
|
|
NM_001378457.1(DMXL2):c.2591A>C (p.His864Pro)
|
rs2046923279
|
|
NM_001378457.1(DMXL2):c.2594A>C (p.Lys865Thr)
|
|
|
NM_001378457.1(DMXL2):c.2613G>A (p.Lys871=)
|
|
|
NM_001378457.1(DMXL2):c.261C>T (p.Gly87=)
|
|
|
NM_001378457.1(DMXL2):c.2620_2621del (p.Glu874fs)
|
|
|
NM_001378457.1(DMXL2):c.2625A>C (p.Ile875=)
|
|
|
NM_001378457.1(DMXL2):c.2644+14A>G
|
|
|
NM_001378457.1(DMXL2):c.2644+14del
|
|
|
NM_001378457.1(DMXL2):c.2644+14dup
|
|
|
NM_001378457.1(DMXL2):c.2644+7T>A
|
|
|
NM_001378457.1(DMXL2):c.2644+9A>C
|
|
|
NM_001378457.1(DMXL2):c.2645-15T>G
|
|
|
NM_001378457.1(DMXL2):c.2645-19C>T
|
|
|
NM_001378457.1(DMXL2):c.264A>G (p.Ile88Met)
|
|
|
NM_001378457.1(DMXL2):c.2650C>T (p.Arg884Cys)
|
|
|
NM_001378457.1(DMXL2):c.2651G>A (p.Arg884His)
|
|
|
NM_001378457.1(DMXL2):c.2658A>G (p.Pro886=)
|
|
|
NM_001378457.1(DMXL2):c.2659C>T (p.Pro887Ser)
|
|
|
NM_001378457.1(DMXL2):c.2661A>G (p.Pro887=)
|
|
|
NM_001378457.1(DMXL2):c.2669A>T (p.Glu890Val)
|
|
|
NM_001378457.1(DMXL2):c.2676C>G (p.Phe892Leu)
|
|
|
NM_001378457.1(DMXL2):c.2682A>C (p.Leu894=)
|
|
|
NM_001378457.1(DMXL2):c.2695A>G (p.Lys899Glu)
|
|
|
NM_001378457.1(DMXL2):c.2697G>A (p.Lys899=)
|
|
|
NM_001378457.1(DMXL2):c.2703C>T (p.Ser901=)
|
|
|
NM_001378457.1(DMXL2):c.2704A>G (p.Asn902Asp)
|
|
|
NM_001378457.1(DMXL2):c.2709T>C (p.Asn903=)
|
|
|
NM_001378457.1(DMXL2):c.2719C>T (p.Leu907=)
|
|
|
NM_001378457.1(DMXL2):c.2733C>A (p.His911Gln)
|
|
|
NM_001378457.1(DMXL2):c.2734C>T (p.Leu912Phe)
|
|
|
NM_001378457.1(DMXL2):c.2738A>G (p.His913Arg)
|
|
|
NM_001378457.1(DMXL2):c.2758T>C (p.Cys920Arg)
|
|
|
NM_001378457.1(DMXL2):c.275A>T (p.Lys92Ile)
|
rs1398164275
|
|
NM_001378457.1(DMXL2):c.2764+16T>A
|
|
|
NM_001378457.1(DMXL2):c.2764+19A>C
|
|
|
NM_001378457.1(DMXL2):c.2764+20T>A
|
|
|
NM_001378457.1(DMXL2):c.2764+8A>G
|
|
|
NM_001378457.1(DMXL2):c.2764_2764+3del
|
rs2140551864
|
|
NM_001378457.1(DMXL2):c.2765-12T>G
|
|
|
NM_001378457.1(DMXL2):c.2765-18T>G
|
|
|
NM_001378457.1(DMXL2):c.2770G>T (p.Ala924Ser)
|
|
|
NM_001378457.1(DMXL2):c.2778del (p.Ala928fs)
|
|
|
NM_001378457.1(DMXL2):c.2787C>G (p.Ser929=)
|
|
|
NM_001378457.1(DMXL2):c.278G>T (p.Arg93Ile)
|
|
|
NM_001378457.1(DMXL2):c.2799A>G (p.Leu933=)
|
|
|
NM_001378457.1(DMXL2):c.27A>C (p.Gly9=)
|
rs2278989
|
|
NM_001378457.1(DMXL2):c.2812G>C (p.Gly938Arg)
|
rs2140515333
|
|
NM_001378457.1(DMXL2):c.2816A>G (p.Gln939Arg)
|
|
|
NM_001378457.1(DMXL2):c.2824G>T (p.Val942Leu)
|
rs144279316
|
|
NM_001378457.1(DMXL2):c.2835T>C (p.Ser945=)
|
|
|
NM_001378457.1(DMXL2):c.2847T>G (p.Ser949=)
|
|
|
NM_001378457.1(DMXL2):c.285+15A>G
|
|
|
NM_001378457.1(DMXL2):c.285+17A>G
|
|
|
NM_001378457.1(DMXL2):c.2851A>C (p.Ser951Arg)
|
|
|
NM_001378457.1(DMXL2):c.2851A>G (p.Ser951Gly)
|
|
|
NM_001378457.1(DMXL2):c.286-10C>T
|
|
|
NM_001378457.1(DMXL2):c.286-11A>G
|
|
|
NM_001378457.1(DMXL2):c.286-15G>A
|
|
|
NM_001378457.1(DMXL2):c.2860C>G (p.Pro954Ala)
|
|
|
NM_001378457.1(DMXL2):c.2874T>C (p.Ser958=)
|
rs2140514722
|
|
NM_001378457.1(DMXL2):c.2888A>G (p.Asn963Ser)
|
|
|
NM_001378457.1(DMXL2):c.2891T>A (p.Leu964His)
|
|
|
NM_001378457.1(DMXL2):c.2901C>T (p.Ala967=)
|
|
|
NM_001378457.1(DMXL2):c.2912T>A (p.Ile971Asn)
|
|
|
NM_001378457.1(DMXL2):c.291C>T (p.Leu97=)
|
|
|
NM_001378457.1(DMXL2):c.2923A>C (p.Arg975=)
|
|
|
NM_001378457.1(DMXL2):c.2923A>G (p.Arg975Gly)
|
|
|
NM_001378457.1(DMXL2):c.2930T>C (p.Val977Ala)
|
rs2140514328
|
|
NM_001378457.1(DMXL2):c.2947G>C (p.Asp983His)
|
|
|
NM_001378457.1(DMXL2):c.2981C>T (p.Thr994Met)
|
|
|
NM_001378457.1(DMXL2):c.2982G>A (p.Thr994=)
|
|
|
NM_001378457.1(DMXL2):c.2992+10C>T
|
|
|
NM_001378457.1(DMXL2):c.2992+2T>C
|
|
|
NM_001378457.1(DMXL2):c.2992+8C>T
|
|
|
NM_001378457.1(DMXL2):c.2993-4T>C
|
|
|
NM_001378457.1(DMXL2):c.2993-7T>A
|
|
|
NM_001378457.1(DMXL2):c.2994C>T (p.Gly998=)
|
|
|
NM_001378457.1(DMXL2):c.299A>T (p.Gln100Leu)
|
rs2141049474
|
|
NM_001378457.1(DMXL2):c.300G>A (p.Gln100=)
|
|
|
NM_001378457.1(DMXL2):c.3013A>G (p.Ile1005Val)
|
rs368879102
|
|
NM_001378457.1(DMXL2):c.3057T>C (p.Cys1019=)
|
|
|
NM_001378457.1(DMXL2):c.3074G>A (p.Arg1025His)
|
|
|
NM_001378457.1(DMXL2):c.3080G>A (p.Trp1027Ter)
|
|
|
NM_001378457.1(DMXL2):c.3103C>A (p.Pro1035Thr)
|
rs1230775234
|
|
NM_001378457.1(DMXL2):c.3110G>A (p.Cys1037Tyr)
|
|
|
NM_001378457.1(DMXL2):c.3113A>G (p.Asn1038Ser)
|
|
|
NM_001378457.1(DMXL2):c.3116A>G (p.Lys1039Arg)
|
|
|
NM_001378457.1(DMXL2):c.3129A>G (p.Lys1043=)
|
|
|
NM_001378457.1(DMXL2):c.3130G>A (p.Glu1044Lys)
|
|
|
NM_001378457.1(DMXL2):c.3140A>G (p.His1047Arg)
|
|
|
NM_001378457.1(DMXL2):c.3165T>C (p.Asn1055=)
|
|
|
NM_001378457.1(DMXL2):c.3170_3172del (p.Glu1057del)
|
|
|
NM_001378457.1(DMXL2):c.3184A>G (p.Ser1062Gly)
|
|
|
NM_001378457.1(DMXL2):c.3185G>T (p.Ser1062Ile)
|
|
|
NM_001378457.1(DMXL2):c.3190A>G (p.Thr1064Ala)
|
|
|
NM_001378457.1(DMXL2):c.3199A>G (p.Ile1067Val)
|
|
|
NM_001378457.1(DMXL2):c.3200T>C (p.Ile1067Thr)
|
rs2043471170
|
|
NM_001378457.1(DMXL2):c.3202G>A (p.Val1068Met)
|
|
|
NM_001378457.1(DMXL2):c.3218C>T (p.Ala1073Val)
|
|
|
NM_001378457.1(DMXL2):c.321T>C (p.Phe107=)
|
rs774770175
|
|
NM_001378457.1(DMXL2):c.3225C>T (p.Ser1075=)
|
|
|
NM_001378457.1(DMXL2):c.3228T>C (p.Cys1076=)
|
|
|
NM_001378457.1(DMXL2):c.3240T>G (p.Gly1080=)
|
|
|
NM_001378457.1(DMXL2):c.3252G>A (p.Val1084=)
|
rs764280315
|
|
NM_001378457.1(DMXL2):c.3257A>G (p.Tyr1086Cys)
|
rs374283589
|
|
NM_001378457.1(DMXL2):c.325T>C (p.Leu109=)
|
|
|
NM_001378457.1(DMXL2):c.3260A>C (p.Lys1087Thr)
|
rs1229074552
|
|
NM_001378457.1(DMXL2):c.3263A>G (p.Gln1088Arg)
|
rs2140491047
|
|
NM_001378457.1(DMXL2):c.3264G>C (p.Gln1088His)
|
|
|
NM_001378457.1(DMXL2):c.3265C>G (p.Pro1089Ala)
|
|
|
NM_001378457.1(DMXL2):c.3268A>G (p.Ile1090Val)
|
|
|
NM_001378457.1(DMXL2):c.326del (p.Phe108_Leu109insTer)
|
|
|
NM_001378457.1(DMXL2):c.326dup (p.Leu109fs)
|
|
|
NM_001378457.1(DMXL2):c.3285T>C (p.Phe1095=)
|
|
|
NM_001378457.1(DMXL2):c.3309T>C (p.His1103=)
|
|
|
NM_001378457.1(DMXL2):c.3321T>A (p.Phe1107Leu)
|
|
|
NM_001378457.1(DMXL2):c.3332C>T (p.Ser1111Phe)
|
|
|
NM_001378457.1(DMXL2):c.3334A>G (p.Thr1112Ala)
|
|
|
NM_001378457.1(DMXL2):c.3336A>G (p.Thr1112=)
|
|
|
NM_001378457.1(DMXL2):c.3345A>G (p.Ser1115=)
|
|
|
NM_001378457.1(DMXL2):c.3348G>A (p.Glu1116=)
|
|
|
NM_001378457.1(DMXL2):c.3354T>A (p.Val1118=)
|
|
|
NM_001378457.1(DMXL2):c.3366A>G (p.Thr1122=)
|
|
|
NM_001378457.1(DMXL2):c.3375T>G (p.Leu1125=)
|
|
|
NM_001378457.1(DMXL2):c.3385G>A (p.Val1129Ile)
|
rs2043456849
|
|
NM_001378457.1(DMXL2):c.339A>T (p.Thr113=)
|
|
|
NM_001378457.1(DMXL2):c.3419G>C (p.Ser1140Thr)
|
|
|
NM_001378457.1(DMXL2):c.3420C>A (p.Ser1140Arg)
|
|
|
NM_001378457.1(DMXL2):c.3420C>T (p.Ser1140=)
|
rs368031898
|
|
NM_001378457.1(DMXL2):c.3421G>A (p.Val1141Ile)
|
|
|
NM_001378457.1(DMXL2):c.3423C>T (p.Val1141=)
|
|
|
NM_001378457.1(DMXL2):c.342C>G (p.Tyr114Ter)
|
|
|
NM_001378457.1(DMXL2):c.3433C>T (p.Leu1145=)
|
|
|
NM_001378457.1(DMXL2):c.3435G>C (p.Leu1145=)
|
rs2140490027
|
|
NM_001378457.1(DMXL2):c.3437_3440del (p.Phe1146fs)
|
|
|
NM_001378457.1(DMXL2):c.3441G>A (p.Val1147=)
|
|
|
NM_001378457.1(DMXL2):c.344A>G (p.Asn115Ser)
|
|
|
NM_001378457.1(DMXL2):c.3453A>G (p.Ser1151=)
|
|
|
NM_001378457.1(DMXL2):c.3459A>C (p.Ala1153=)
|
|
|
NM_001378457.1(DMXL2):c.3477A>G (p.Arg1159=)
|
|
|
NM_001378457.1(DMXL2):c.3480T>C (p.Tyr1160=)
|
|
|
NM_001378457.1(DMXL2):c.3481C>G (p.Leu1161Val)
|
|
|
NM_001378457.1(DMXL2):c.3488C>A (p.Pro1163Gln)
|
|
|
NM_001378457.1(DMXL2):c.3488C>T (p.Pro1163Leu)
|
|
|
NM_001378457.1(DMXL2):c.3489G>A (p.Pro1163=)
|
|
|
NM_001378457.1(DMXL2):c.3490A>T (p.Asn1164Tyr)
|
|
|
NM_001378457.1(DMXL2):c.3491A>G (p.Asn1164Ser)
|
rs2140489540
|
|
NM_001378457.1(DMXL2):c.3497A>C (p.Lys1166Thr)
|
rs781292284
|
|
NM_001378457.1(DMXL2):c.3497A>G (p.Lys1166Arg)
|
|
|
NM_001378457.1(DMXL2):c.3517T>G (p.Trp1173Gly)
|
|
|
NM_001378457.1(DMXL2):c.3549T>C (p.Leu1183=)
|
|
|
NM_001378457.1(DMXL2):c.3578T>C (p.Met1193Thr)
|
|
|
NM_001378457.1(DMXL2):c.3579G>A (p.Met1193Ile)
|
|
|
NM_001378457.1(DMXL2):c.3606T>A (p.Thr1202=)
|
|
|
NM_001378457.1(DMXL2):c.3615C>G (p.Thr1205=)
|
|
|
NM_001378457.1(DMXL2):c.3616A>C (p.Asn1206His)
|
|
|
NM_001378457.1(DMXL2):c.364+11A>T
|
|
|
NM_001378457.1(DMXL2):c.364+18T>G
|
|
|
NM_001378457.1(DMXL2):c.365-2A>C
|
|
|
NM_001378457.1(DMXL2):c.3670C>G (p.Gln1224Glu)
|
|
|
NM_001378457.1(DMXL2):c.3676G>T (p.Val1226Phe)
|
|
|
NM_001378457.1(DMXL2):c.3694C>G (p.Leu1232Val)
|
|
|
NM_001378457.1(DMXL2):c.3694C>T (p.Leu1232Phe)
|
|
|
NM_001378457.1(DMXL2):c.3696T>A (p.Leu1232=)
|
|
|
NM_001378457.1(DMXL2):c.3706A>G (p.Ile1236Val)
|
rs1193446493
|
|
NM_001378457.1(DMXL2):c.370A>G (p.Arg124Gly)
|
|
|
NM_001378457.1(DMXL2):c.3717A>G (p.Val1239=)
|
|
|
NM_001378457.1(DMXL2):c.3719C>T (p.Ser1240Phe)
|
rs1261453652
|
|
NM_001378457.1(DMXL2):c.3736C>G (p.Pro1246Ala)
|
|
|
NM_001378457.1(DMXL2):c.3757T>G (p.Ser1253Ala)
|
|
|
NM_001378457.1(DMXL2):c.3759_3760del (p.Trp1254fs)
|
|
|
NM_001378457.1(DMXL2):c.375G>T (p.Leu125Phe)
|
|
|
NM_001378457.1(DMXL2):c.3774G>C (p.Gly1258=)
|
|
|
NM_001378457.1(DMXL2):c.3778T>C (p.Leu1260=)
|
|
|
NM_001378457.1(DMXL2):c.3784G>A (p.Val1262Ile)
|
|
|
NM_001378457.1(DMXL2):c.3790A>G (p.Met1264Val)
|
|
|
NM_001378457.1(DMXL2):c.3810A>G (p.Val1270=)
|
|
|
NM_001378457.1(DMXL2):c.3824A>G (p.Lys1275Arg)
|
|
|
NM_001378457.1(DMXL2):c.3847A>T (p.Thr1283Ser)
|
|
|
NM_001378457.1(DMXL2):c.3848C>G (p.Thr1283Ser)
|
|
|
NM_001378457.1(DMXL2):c.3848C>T (p.Thr1283Ile)
|
|
|
NM_001378457.1(DMXL2):c.3867T>C (p.Asn1289=)
|
|
|
NM_001378457.1(DMXL2):c.3879A>T (p.Ala1293=)
|
|
|
NM_001378457.1(DMXL2):c.387T>C (p.Thr129=)
|
|
|
NM_001378457.1(DMXL2):c.3881C>G (p.Ala1294Gly)
|
|
|
NM_001378457.1(DMXL2):c.3883A>G (p.Met1295Val)
|
|
|
NM_001378457.1(DMXL2):c.3893A>G (p.His1298Arg)
|
|
|
NM_001378457.1(DMXL2):c.3893A>T (p.His1298Leu)
|
rs2140487294
|
|
NM_001378457.1(DMXL2):c.3897G>A (p.Ser1299=)
|
|
|
NM_001378457.1(DMXL2):c.389A>T (p.Asp130Val)
|
|
|
NM_001378457.1(DMXL2):c.3900C>A (p.Thr1300=)
|
|
|
NM_001378457.1(DMXL2):c.3903T>C (p.Phe1301=)
|
|
|
NM_001378457.1(DMXL2):c.3909T>C (p.Ser1303=)
|
|
|
NM_001378457.1(DMXL2):c.3917T>C (p.Leu1306Pro)
|
|
|
NM_001378457.1(DMXL2):c.3927A>C (p.Lys1309Asn)
|
rs2140487036
|
|
NM_001378457.1(DMXL2):c.3954T>G (p.Ser1318=)
|
|
|
NM_001378457.1(DMXL2):c.3960T>C (p.Asp1320=)
|
|
|
NM_001378457.1(DMXL2):c.3976A>G (p.Thr1326Ala)
|
rs1014186205
|
|
NM_001378457.1(DMXL2):c.399G>T (p.Gln133His)
|
rs2141043683
|
|
NM_001378457.1(DMXL2):c.4003G>C (p.Glu1335Gln)
|
|
|
NM_001378457.1(DMXL2):c.4005G>A (p.Glu1335=)
|
|
|
NM_001378457.1(DMXL2):c.4011A>G (p.Ala1337=)
|
|
|
NM_001378457.1(DMXL2):c.4015G>T (p.Val1339Leu)
|
rs1262143694
|
|
NM_001378457.1(DMXL2):c.4026T>C (p.Pro1342=)
|
|
|
NM_001378457.1(DMXL2):c.402G>A (p.Leu134=)
|
|
|
NM_001378457.1(DMXL2):c.4084C>A (p.Arg1362=)
|
|
|
NM_001378457.1(DMXL2):c.409C>A (p.Pro137Thr)
|
|
|
NM_001378457.1(DMXL2):c.411T>G (p.Pro137=)
|
|
|
NM_001378457.1(DMXL2):c.4137A>C (p.Val1379=)
|
|
|
NM_001378457.1(DMXL2):c.4140A>G (p.Ala1380=)
|
|
|
NM_001378457.1(DMXL2):c.414A>C (p.Pro138=)
|
|
|
NM_001378457.1(DMXL2):c.4156G>C (p.Asp1386His)
|
rs753387419
|
|
NM_001378457.1(DMXL2):c.4162G>A (p.Gly1388Arg)
|
|
|
NM_001378457.1(DMXL2):c.4173T>C (p.Thr1391=)
|
|
|
NM_001378457.1(DMXL2):c.4177C>A (p.Arg1393=)
|
|
|
NM_001378457.1(DMXL2):c.4177C>G (p.Arg1393Gly)
|
|
|
NM_001378457.1(DMXL2):c.4209C>T (p.Gly1403=)
|
|
|
NM_001378457.1(DMXL2):c.4212T>C (p.Ser1404=)
|
|
|
NM_001378457.1(DMXL2):c.4213A>G (p.Thr1405Ala)
|
rs760535254
|
|
NM_001378457.1(DMXL2):c.421G>A (p.Asp141Asn)
|
|
|
NM_001378457.1(DMXL2):c.421G>C (p.Asp141His)
|
|
|
NM_001378457.1(DMXL2):c.4224A>G (p.Glu1408=)
|
|
|
NM_001378457.1(DMXL2):c.4233C>T (p.Thr1411=)
|
|
|
NM_001378457.1(DMXL2):c.4243G>T (p.Asp1415Tyr)
|
rs370151145
|
|
NM_001378457.1(DMXL2):c.4244A>G (p.Asp1415Gly)
|
|
|
NM_001378457.1(DMXL2):c.4245T>C (p.Asp1415=)
|
|
|
NM_001378457.1(DMXL2):c.4247G>A (p.Gly1416Asp)
|
|
|
NM_001378457.1(DMXL2):c.4248T>C (p.Gly1416=)
|
|
|
NM_001378457.1(DMXL2):c.4252C>A (p.Arg1418=)
|
|
|
NM_001378457.1(DMXL2):c.4252C>T (p.Arg1418Ter)
|
|
|
NM_001378457.1(DMXL2):c.4260T>C (p.Tyr1420=)
|
|
|
NM_001378457.1(DMXL2):c.4261A>G (p.Thr1421Ala)
|
|
|
NM_001378457.1(DMXL2):c.4284A>G (p.Pro1428=)
|
|
|
NM_001378457.1(DMXL2):c.4291C>T (p.Leu1431=)
|
|
|
NM_001378457.1(DMXL2):c.4293A>G (p.Leu1431=)
|
|
|
NM_001378457.1(DMXL2):c.4316A>G (p.Gln1439Arg)
|
|
|
NM_001378457.1(DMXL2):c.4319A>G (p.Asp1440Gly)
|
|
|
NM_001378457.1(DMXL2):c.4323A>G (p.Thr1441=)
|
|
|
NM_001378457.1(DMXL2):c.432A>G (p.Glu144=)
|
|
|
NM_001378457.1(DMXL2):c.4335T>G (p.Ile1445Met)
|
|
|
NM_001378457.1(DMXL2):c.4346G>A (p.Ser1449Asn)
|
|
|
NM_001378457.1(DMXL2):c.4362G>C (p.Gln1454His)
|
|
|
NM_001378457.1(DMXL2):c.4376A>G (p.Gln1459Arg)
|
|
|
NM_001378457.1(DMXL2):c.4379C>G (p.Thr1460Arg)
|
|
|
NM_001378457.1(DMXL2):c.4389A>G (p.Gln1463=)
|
|
|
NM_001378457.1(DMXL2):c.4390C>A (p.Pro1464Thr)
|
|
|
NM_001378457.1(DMXL2):c.4397A>G (p.Asp1466Gly)
|
|
|
NM_001378457.1(DMXL2):c.440A>G (p.Glu147Gly)
|
|
|
NM_001378457.1(DMXL2):c.4411C>T (p.Leu1471=)
|
|
|
NM_001378457.1(DMXL2):c.4419A>C (p.Gln1473His)
|
|
|
NM_001378457.1(DMXL2):c.4427A>G (p.Asp1476Gly)
|
|
|
NM_001378457.1(DMXL2):c.4441G>T (p.Asp1481Tyr)
|
|
|
NM_001378457.1(DMXL2):c.4444A>G (p.Ile1482Val)
|
|
|
NM_001378457.1(DMXL2):c.4488A>C (p.Ile1496=)
|
|
|
NM_001378457.1(DMXL2):c.4490A>T (p.Asn1497Ile)
|
|
|
NM_001378457.1(DMXL2):c.449A>T (p.Asp150Val)
|
|
|
NM_001378457.1(DMXL2):c.4500A>G (p.Gln1500=)
|
|
|
NM_001378457.1(DMXL2):c.4521C>G (p.Gly1507=)
|
|
|
NM_001378457.1(DMXL2):c.4525G>A (p.Glu1509Lys)
|
|
|
NM_001378457.1(DMXL2):c.452A>G (p.Asn151Ser)
|
|
|
NM_001378457.1(DMXL2):c.4530T>C (p.His1510=)
|
|
|
NM_001378457.1(DMXL2):c.4560C>T (p.His1520=)
|
|
|
NM_001378457.1(DMXL2):c.4593G>A (p.Gln1531=)
|
|
|
NM_001378457.1(DMXL2):c.4607C>G (p.Ala1536Gly)
|
|
|
NM_001378457.1(DMXL2):c.460C>G (p.Pro154Ala)
|
|
|
NM_001378457.1(DMXL2):c.4645G>C (p.Asp1549His)
|
|
|
NM_001378457.1(DMXL2):c.4647T>G (p.Asp1549Glu)
|
|
|
NM_001378457.1(DMXL2):c.465T>G (p.Pro155=)
|
|
|
NM_001378457.1(DMXL2):c.4668C>T (p.Cys1556=)
|
|
|
NM_001378457.1(DMXL2):c.4670C>T (p.Ser1557Leu)
|
|
|
NM_001378457.1(DMXL2):c.4672+12C>T
|
|
|
NM_001378457.1(DMXL2):c.4672+15T>G
|
|
|
NM_001378457.1(DMXL2):c.4672+9T>A
|
|
|
NM_001378457.1(DMXL2):c.4673-14del
|
|
|
NM_001378457.1(DMXL2):c.4683A>G (p.Thr1561=)
|
|
|
NM_001378457.1(DMXL2):c.4694G>A (p.Cys1565Tyr)
|
|
|
NM_001378457.1(DMXL2):c.4722C>T (p.Arg1574=)
|
|
|
NM_001378457.1(DMXL2):c.4731A>G (p.Thr1577=)
|
|
|
NM_001378457.1(DMXL2):c.4735C>T (p.Leu1579Phe)
|
|
|
NM_001378457.1(DMXL2):c.4739T>A (p.Leu1580Ter)
|
|
|
NM_001378457.1(DMXL2):c.4762C>T (p.Arg1588Ter)
|
|
|
NM_001378457.1(DMXL2):c.4767G>A (p.Val1589=)
|
rs1596003551
|
|
NM_001378457.1(DMXL2):c.4768C>T (p.Gln1590Ter)
|
|
|
NM_001378457.1(DMXL2):c.4774C>T (p.Leu1592Phe)
|
|
|
NM_001378457.1(DMXL2):c.4777C>A (p.His1593Asn)
|
|
|
NM_001378457.1(DMXL2):c.477T>C (p.Asp159=)
|
|
|
NM_001378457.1(DMXL2):c.4783+12A>C
|
|
|
NM_001378457.1(DMXL2):c.4783+19G>A
|
|
|
NM_001378457.1(DMXL2):c.4783+7C>T
|
|
|
NM_001378457.1(DMXL2):c.4784-10T>C
|
|
|
NM_001378457.1(DMXL2):c.4784-10T>G
|
|
|
NM_001378457.1(DMXL2):c.4784-19T>C
|
rs1217947159
|
|
NM_001378457.1(DMXL2):c.4784-20_4784-13del
|
|
|
NM_001378457.1(DMXL2):c.478T>A (p.Trp160Arg)
|
|
|
NM_001378457.1(DMXL2):c.4791T>C (p.Ser1597=)
|
rs375193472
|
|
NM_001378457.1(DMXL2):c.4806C>T (p.Ala1602=)
|
|
|
NM_001378457.1(DMXL2):c.4836A>G (p.Glu1612=)
|
|
|
NM_001378457.1(DMXL2):c.4840A>G (p.Ile1614Val)
|
|
|
NM_001378457.1(DMXL2):c.4842T>A (p.Ile1614=)
|
|
|
NM_001378457.1(DMXL2):c.4872C>A (p.Asp1624Glu)
|
|
|
NM_001378457.1(DMXL2):c.4876C>T (p.Gln1626Ter)
|
|
|
NM_001378457.1(DMXL2):c.4920G>A (p.Arg1640=)
|
|
|
NM_001378457.1(DMXL2):c.4932G>A (p.Thr1644=)
|
|
|
NM_001378457.1(DMXL2):c.4953+13T>C
|
|
|
NM_001378457.1(DMXL2):c.4953+18G>T
|
|
|
NM_001378457.1(DMXL2):c.4953+8T>G
|
|
|
NM_001378457.1(DMXL2):c.4954-20A>G
|
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NM_001378457.1(DMXL2):c.4954-9A>T
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NM_001378457.1(DMXL2):c.4955T>C (p.Val1652Ala)
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NM_001378457.1(DMXL2):c.4962A>G (p.Lys1654=)
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NM_001378457.1(DMXL2):c.4974A>G (p.Gln1658=)
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NM_001378457.1(DMXL2):c.4980C>T (p.Asn1660=)
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NM_001378457.1(DMXL2):c.4983T>C (p.Asn1661=)
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NM_001378457.1(DMXL2):c.4987G>A (p.Ala1663Thr)
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NM_001378457.1(DMXL2):c.4997C>T (p.Ala1666Val)
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NM_001378457.1(DMXL2):c.500+11A>G
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NM_001378457.1(DMXL2):c.500+131del
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rs60259473
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NM_001378457.1(DMXL2):c.500+16T>G
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NM_001378457.1(DMXL2):c.500+17A>T
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NM_001378457.1(DMXL2):c.500+20_500+22del
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rs759082180
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NM_001378457.1(DMXL2):c.500+7G>A
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NM_001378457.1(DMXL2):c.5004A>G (p.Leu1668=)
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NM_001378457.1(DMXL2):c.501-11C>T
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NM_001378457.1(DMXL2):c.501-12T>G
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NM_001378457.1(DMXL2):c.501-14T>A
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NM_001378457.1(DMXL2):c.501-15CT[3]
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NM_001378457.1(DMXL2):c.501-17A>T
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NM_001378457.1(DMXL2):c.5015C>T (p.Ser1672Leu)
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NM_001378457.1(DMXL2):c.5017A>G (p.Met1673Val)
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NM_001378457.1(DMXL2):c.5020A>C (p.Lys1674Gln)
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rs1438220307
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NM_001378457.1(DMXL2):c.5028A>G (p.Lys1676=)
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NM_001378457.1(DMXL2):c.5044C>T (p.Leu1682=)
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NM_001378457.1(DMXL2):c.5049T>C (p.Phe1683=)
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NM_001378457.1(DMXL2):c.504C>G (p.Thr168=)
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NM_001378457.1(DMXL2):c.5051+12T>A
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NM_001378457.1(DMXL2):c.5052-13G>T
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NM_001378457.1(DMXL2):c.5052-18_5052-13del
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NM_001378457.1(DMXL2):c.5052-4C>T
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rs745518613
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NM_001378457.1(DMXL2):c.5078C>T (p.Thr1693Ile)
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NM_001378457.1(DMXL2):c.5093A>G (p.Asn1698Ser)
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NM_001378457.1(DMXL2):c.5103A>G (p.Glu1701=)
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NM_001378457.1(DMXL2):c.5106T>C (p.Asp1702=)
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NM_001378457.1(DMXL2):c.5109A>G (p.Arg1703=)
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NM_001378457.1(DMXL2):c.5112G>A (p.Trp1704Ter)
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NM_001378457.1(DMXL2):c.5114G>A (p.Arg1705Gln)
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NM_001378457.1(DMXL2):c.5121T>C (p.Ala1707=)
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NM_001378457.1(DMXL2):c.5136T>A (p.Ala1712=)
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NM_001378457.1(DMXL2):c.5138T>A (p.Phe1713Tyr)
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NM_001378457.1(DMXL2):c.5158C>T (p.Arg1720Cys)
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NM_001378457.1(DMXL2):c.5163T>C (p.Phe1721=)
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NM_001378457.1(DMXL2):c.516A>G (p.Val172=)
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NM_001378457.1(DMXL2):c.5172G>A (p.Ser1724=)
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NM_001378457.1(DMXL2):c.5199A>C (p.Ser1733=)
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NM_001378457.1(DMXL2):c.5200T>C (p.Leu1734=)
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NM_001378457.1(DMXL2):c.5207A>G (p.Asp1736Gly)
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NM_001378457.1(DMXL2):c.5217+20C>T
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NM_001378457.1(DMXL2):c.5217+7A>G
|
rs2140415294
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NM_001378457.1(DMXL2):c.5217+8T>C
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NM_001378457.1(DMXL2):c.5217G>A (p.Glu1739=)
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NM_001378457.1(DMXL2):c.5218-10A>G
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NM_001378457.1(DMXL2):c.5218-19T>C
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NM_001378457.1(DMXL2):c.5218-21_5218-18del
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NM_001378457.1(DMXL2):c.5220A>G (p.Val1740=)
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NM_001378457.1(DMXL2):c.5229A>G (p.Glu1743=)
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NM_001378457.1(DMXL2):c.5235G>A (p.Met1745Ile)
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NM_001378457.1(DMXL2):c.5243T>C (p.Ile1748Thr)
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NM_001378457.1(DMXL2):c.524T>C (p.Met175Thr)
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NM_001378457.1(DMXL2):c.5253C>A (p.Ala1751=)
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NM_001378457.1(DMXL2):c.5256G>A (p.Met1752Ile)
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NM_001378457.1(DMXL2):c.5294C>G (p.Ser1765Ter)
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NM_001378457.1(DMXL2):c.5295A>C (p.Ser1765=)
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NM_001378457.1(DMXL2):c.5295A>G (p.Ser1765=)
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NM_001378457.1(DMXL2):c.5304T>C (p.Tyr1768=)
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NM_001378457.1(DMXL2):c.5313C>T (p.Ile1771=)
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NM_001378457.1(DMXL2):c.5333G>A (p.Gly1778Asp)
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rs186940430
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NM_001378457.1(DMXL2):c.5333G>C (p.Gly1778Ala)
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NM_001378457.1(DMXL2):c.5340A>G (p.Gln1780=)
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NM_001378457.1(DMXL2):c.5342A>C (p.Lys1781Thr)
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NM_001378457.1(DMXL2):c.5343G>A (p.Lys1781=)
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NM_001378457.1(DMXL2):c.5345A>T (p.Asp1782Val)
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NM_001378457.1(DMXL2):c.5349C>T (p.Gly1783=)
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NM_001378457.1(DMXL2):c.535C>T (p.Pro179Ser)
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NM_001378457.1(DMXL2):c.5360G>T (p.Ser1787Ile)
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NM_001378457.1(DMXL2):c.5361T>C (p.Ser1787=)
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NM_001378457.1(DMXL2):c.5364C>G (p.Cys1788Trp)
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NM_001378457.1(DMXL2):c.5364C>T (p.Cys1788=)
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NM_001378457.1(DMXL2):c.5379T>C (p.Pro1793=)
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NM_001378457.1(DMXL2):c.537T>C (p.Pro179=)
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NM_001378457.1(DMXL2):c.5388C>T (p.Phe1796=)
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NM_001378457.1(DMXL2):c.5428C>G (p.Arg1810Gly)
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NM_001378457.1(DMXL2):c.5428C>T (p.Arg1810Ter)
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NM_001378457.1(DMXL2):c.5429G>A (p.Arg1810Gln)
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NM_001378457.1(DMXL2):c.5442A>G (p.Thr1814=)
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NM_001378457.1(DMXL2):c.5457A>G (p.Thr1819=)
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NM_001378457.1(DMXL2):c.5482+7C>T
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NM_001378457.1(DMXL2):c.5483-10A>T
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NM_001378457.1(DMXL2):c.5483-11G>A
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NM_001378457.1(DMXL2):c.5483-11G>T
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NM_001378457.1(DMXL2):c.5483-12T>G
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NM_001378457.1(DMXL2):c.5483-20dup
|
rs779589118
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NM_001378457.1(DMXL2):c.5483-5T>A
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NM_001378457.1(DMXL2):c.5483-5T>C
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NM_001378457.1(DMXL2):c.5483-9T>C
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NM_001378457.1(DMXL2):c.5486TCA[1] (p.Ile1830del)
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NM_001378457.1(DMXL2):c.5492A>G (p.Lys1831Arg)
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NM_001378457.1(DMXL2):c.5493G>A (p.Lys1831=)
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NM_001378457.1(DMXL2):c.54C>T (p.Tyr18=)
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NM_001378457.1(DMXL2):c.5504C>T (p.Pro1835Leu)
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NM_001378457.1(DMXL2):c.5505G>A (p.Pro1835=)
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NM_001378457.1(DMXL2):c.5540A>T (p.His1847Leu)
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NM_001378457.1(DMXL2):c.5544T>A (p.Pro1848=)
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NM_001378457.1(DMXL2):c.5554C>T (p.Arg1852Ter)
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NM_001378457.1(DMXL2):c.5555G>A (p.Arg1852Gln)
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NM_001378457.1(DMXL2):c.555T>C (p.Ala185=)
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NM_001378457.1(DMXL2):c.5577A>G (p.Glu1859=)
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NM_001378457.1(DMXL2):c.5581A>G (p.Thr1861Ala)
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NM_001378457.1(DMXL2):c.5583T>A (p.Thr1861=)
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NM_001378457.1(DMXL2):c.5590A>G (p.Thr1864Ala)
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NM_001378457.1(DMXL2):c.5591C>A (p.Thr1864Asn)
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NM_001378457.1(DMXL2):c.5602A>G (p.Lys1868Glu)
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NM_001378457.1(DMXL2):c.5609A>G (p.Glu1870Gly)
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NM_001378457.1(DMXL2):c.5610GAA[1] (p.Lys1871del)
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NM_001378457.1(DMXL2):c.5619T>C (p.Phe1873=)
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NM_001378457.1(DMXL2):c.5622T>A (p.Val1874=)
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NM_001378457.1(DMXL2):c.567+14C>G
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NM_001378457.1(DMXL2):c.568-15C>G
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NM_001378457.1(DMXL2):c.568-9A>T
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NM_001378457.1(DMXL2):c.568G>A (p.Asp190Asn)
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NM_001378457.1(DMXL2):c.569A>G (p.Asp190Gly)
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NM_001378457.1(DMXL2):c.5709G>A (p.Glu1903=)
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NM_001378457.1(DMXL2):c.570T>C (p.Asp190=)
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NM_001378457.1(DMXL2):c.5710G>A (p.Val1904Ile)
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NM_001378457.1(DMXL2):c.5715C>T (p.Leu1905=)
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NM_001378457.1(DMXL2):c.5720A>G (p.Lys1907Arg)
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NM_001378457.1(DMXL2):c.5728A>G (p.Lys1910Glu)
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NM_001378457.1(DMXL2):c.5742A>G (p.Thr1914=)
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NM_001378457.1(DMXL2):c.5769G>A (p.Gln1923=)
|
rs139727538
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NM_001378457.1(DMXL2):c.57C>T (p.Ser19=)
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NM_001378457.1(DMXL2):c.5802A>G (p.Val1934=)
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NM_001378457.1(DMXL2):c.5823G>T (p.Leu1941=)
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NM_001378457.1(DMXL2):c.5827_5841del (p.Asp1943_Ser1947del)
|
rs606231461
|
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NM_001378457.1(DMXL2):c.5829T>C (p.Asp1943=)
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NM_001378457.1(DMXL2):c.5847C>G (p.Gly1949=)
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NM_001378457.1(DMXL2):c.5847C>T (p.Gly1949=)
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NM_001378457.1(DMXL2):c.5854T>A (p.Trp1952Arg)
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NM_001378457.1(DMXL2):c.5855G>C (p.Trp1952Ser)
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NM_001378457.1(DMXL2):c.5862T>C (p.Asn1954=)
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NM_001378457.1(DMXL2):c.5865A>G (p.Val1955=)
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NM_001378457.1(DMXL2):c.5868T>C (p.Thr1956=)
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NM_001378457.1(DMXL2):c.5868_5870del (p.Ser1958del)
|
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NM_001378457.1(DMXL2):c.5877G>A (p.Gln1959=)
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NM_001378457.1(DMXL2):c.5879A>G (p.Tyr1960Cys)
|
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NM_001378457.1(DMXL2):c.589T>C (p.Trp197Arg)
|
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NM_001378457.1(DMXL2):c.5909A>T (p.Asp1970Val)
|
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NM_001378457.1(DMXL2):c.5917C>T (p.Pro1973Ser)
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NM_001378457.1(DMXL2):c.5918C>T (p.Pro1973Leu)
|
rs2140368098
|
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NM_001378457.1(DMXL2):c.5923A>G (p.Asn1975Asp)
|
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|
NM_001378457.1(DMXL2):c.5947G>A (p.Asp1983Asn)
|
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NM_001378457.1(DMXL2):c.5970A>T (p.Glu1990Asp)
|
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NM_001378457.1(DMXL2):c.5973C>T (p.Asp1991=)
|
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NM_001378457.1(DMXL2):c.598A>G (p.Met200Val)
|
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NM_001378457.1(DMXL2):c.5997A>G (p.Lys1999=)
|
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|
NM_001378457.1(DMXL2):c.6007G>A (p.Ala2003Thr)
|
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NM_001378457.1(DMXL2):c.6016A>C (p.Lys2006Gln)
|
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NM_001378457.1(DMXL2):c.6019G>A (p.Asp2007Asn)
|
rs1286715544
|
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NM_001378457.1(DMXL2):c.6035A>C (p.Gln2012Pro)
|
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|
NM_001378457.1(DMXL2):c.6042C>T (p.Ala2014=)
|
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NM_001378457.1(DMXL2):c.6060A>T (p.Leu2020Phe)
|
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NM_001378457.1(DMXL2):c.6065C>T (p.Thr2022Ile)
|
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|
NM_001378457.1(DMXL2):c.6066A>T (p.Thr2022=)
|
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NM_001378457.1(DMXL2):c.6077A>G (p.Glu2026Gly)
|
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NM_001378457.1(DMXL2):c.6084T>A (p.Asp2028Glu)
|
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NM_001378457.1(DMXL2):c.6094G>C (p.Asp2032His)
|
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NM_001378457.1(DMXL2):c.6098C>G (p.Thr2033Ser)
|
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|
NM_001378457.1(DMXL2):c.60G>C (p.Val20=)
|
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|
NM_001378457.1(DMXL2):c.6108T>C (p.Asp2036=)
|
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|
NM_001378457.1(DMXL2):c.6109G>A (p.Val2037Met)
|
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|
NM_001378457.1(DMXL2):c.6110T>A (p.Val2037Glu)
|
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|
NM_001378457.1(DMXL2):c.6111G>C (p.Val2037=)
|
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NM_001378457.1(DMXL2):c.6120A>G (p.Glu2040=)
|
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|
NM_001378457.1(DMXL2):c.6126A>G (p.Leu2042=)
|
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|
NM_001378457.1(DMXL2):c.612G>T (p.Lys204Asn)
|
|
|
NM_001378457.1(DMXL2):c.6159T>C (p.Thr2053=)
|
rs1048796976
|
|
NM_001378457.1(DMXL2):c.6172T>C (p.Leu2058=)
|
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|
NM_001378457.1(DMXL2):c.6177T>C (p.Ala2059=)
|
|
|
NM_001378457.1(DMXL2):c.6187G>A (p.Glu2063Lys)
|
|
|
NM_001378457.1(DMXL2):c.6190G>A (p.Val2064Ile)
|
|
|
NM_001378457.1(DMXL2):c.6195T>C (p.Asp2065=)
|
|
|
NM_001378457.1(DMXL2):c.6216A>G (p.Gln2072=)
|
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|
NM_001378457.1(DMXL2):c.6219C>G (p.Leu2073=)
|
|
|
NM_001378457.1(DMXL2):c.6247G>A (p.Ala2083Thr)
|
rs778580507
|
|
NM_001378457.1(DMXL2):c.6261A>C (p.Ile2087=)
|
|
|
NM_001378457.1(DMXL2):c.6270T>A (p.His2090Gln)
|
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|
NM_001378457.1(DMXL2):c.6270T>C (p.His2090=)
|
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|
NM_001378457.1(DMXL2):c.6273A>T (p.Glu2091Asp)
|
rs1284143090
|
|
NM_001378457.1(DMXL2):c.6275C>T (p.Ser2092Leu)
|
rs2140366363
|
|
NM_001378457.1(DMXL2):c.6279T>C (p.Val2093=)
|
|
|
NM_001378457.1(DMXL2):c.6306T>C (p.Tyr2102=)
|
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|
NM_001378457.1(DMXL2):c.6308C>T (p.Ser2103Phe)
|
|
|
NM_001378457.1(DMXL2):c.6318G>A (p.Glu2106=)
|
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|
NM_001378457.1(DMXL2):c.6319_6320del (p.Glu2106_Ser2107insTer)
|
|
|
NM_001378457.1(DMXL2):c.6328C>G (p.Leu2110Val)
|
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|
NM_001378457.1(DMXL2):c.6343A>G (p.Met2115Val)
|
|
|
NM_001378457.1(DMXL2):c.6350A>G (p.Asp2117Gly)
|
|
|
NM_001378457.1(DMXL2):c.6351C>T (p.Asp2117=)
|
|
|
NM_001378457.1(DMXL2):c.6363T>C (p.Ile2121=)
|
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|
NM_001378457.1(DMXL2):c.6371A>G (p.Tyr2124Cys)
|
|
|
NM_001378457.1(DMXL2):c.6373G>C (p.Glu2125Gln)
|
|
|
NM_001378457.1(DMXL2):c.6377G>A (p.Arg2126His)
|
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|
NM_001378457.1(DMXL2):c.6403C>A (p.Gln2135Lys)
|
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|
NM_001378457.1(DMXL2):c.6406G>A (p.Ala2136Thr)
|
|
|
NM_001378457.1(DMXL2):c.6420T>C (p.His2140=)
|
|
|
NM_001378457.1(DMXL2):c.6423A>G (p.Ala2141=)
|
rs767377074
|
|
NM_001378457.1(DMXL2):c.642A>C (p.Glu214Asp)
|
|
|
NM_001378457.1(DMXL2):c.6430C>T (p.Arg2144Ter)
|
rs1372482877
|
|
NM_001378457.1(DMXL2):c.6431G>A (p.Arg2144Gln)
|
|
|
NM_001378457.1(DMXL2):c.6437C>T (p.Ser2146Leu)
|
|
|
NM_001378457.1(DMXL2):c.6453C>T (p.Asn2151=)
|
|
|
NM_001378457.1(DMXL2):c.645A>G (p.Val215=)
|
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|
NM_001378457.1(DMXL2):c.6466A>G (p.Arg2156Gly)
|
|
|
NM_001378457.1(DMXL2):c.6489C>T (p.Ser2163=)
|
rs2140364949
|
|
NM_001378457.1(DMXL2):c.648A>G (p.Lys216=)
|
rs2140942463
|
|
NM_001378457.1(DMXL2):c.6494A>G (p.His2165Arg)
|
|
|
NM_001378457.1(DMXL2):c.6495T>C (p.His2165=)
|
|
|
NM_001378457.1(DMXL2):c.6501C>T (p.Ala2167=)
|
|
|
NM_001378457.1(DMXL2):c.6529A>T (p.Met2177Leu)
|
|
|
NM_001378457.1(DMXL2):c.6537C>A (p.Leu2179=)
|
|
|
NM_001378457.1(DMXL2):c.6549A>G (p.Leu2183=)
|
|
|
NM_001378457.1(DMXL2):c.6552A>G (p.Gln2184=)
|
|
|
NM_001378457.1(DMXL2):c.6564G>A (p.Gln2188=)
|
|
|
NM_001378457.1(DMXL2):c.6565-18A>T
|
|
|
NM_001378457.1(DMXL2):c.6566A>G (p.Glu2189Gly)
|
|
|
NM_001378457.1(DMXL2):c.6570T>C (p.Thr2190=)
|
|
|
NM_001378457.1(DMXL2):c.6585C>G (p.Leu2195=)
|
|
|
NM_001378457.1(DMXL2):c.6597A>G (p.Leu2199=)
|
|
|
NM_001378457.1(DMXL2):c.6600A>G (p.Pro2200=)
|
|
|
NM_001378457.1(DMXL2):c.6615A>C (p.Leu2205=)
|
rs761183085
|
|
NM_001378457.1(DMXL2):c.661T>C (p.Ser221Pro)
|
|
|
NM_001378457.1(DMXL2):c.6638C>T (p.Ala2213Val)
|
|
|
NM_001378457.1(DMXL2):c.6639G>A (p.Ala2213=)
|
|
|
NM_001378457.1(DMXL2):c.6654C>G (p.Val2218=)
|
|
|
NM_001378457.1(DMXL2):c.6666T>A (p.Pro2222=)
|
|
|
NM_001378457.1(DMXL2):c.6672G>C (p.Leu2224Phe)
|
|
|
NM_001378457.1(DMXL2):c.669A>G (p.Gln223=)
|
|
|
NM_001378457.1(DMXL2):c.6709A>G (p.Ile2237Val)
|
|
|
NM_001378457.1(DMXL2):c.6719T>A (p.Met2240Lys)
|
|
|
NM_001378457.1(DMXL2):c.6725C>T (p.Thr2242Ile)
|
|
|
NM_001378457.1(DMXL2):c.6726A>G (p.Thr2242=)
|
|
|
NM_001378457.1(DMXL2):c.6756+10A>G
|
|
|
NM_001378457.1(DMXL2):c.6756+11del
|
|
|
NM_001378457.1(DMXL2):c.6756+20C>G
|
|
|
NM_001378457.1(DMXL2):c.6756+9A>C
|
|
|
NM_001378457.1(DMXL2):c.6757-18T>C
|
|
|
NM_001378457.1(DMXL2):c.678T>C (p.Phe226=)
|
|
|
NM_001378457.1(DMXL2):c.6795A>T (p.Ala2265=)
|
|
|
NM_001378457.1(DMXL2):c.67G>A (p.Val23Ile)
|
rs1331994383
|
|
NM_001378457.1(DMXL2):c.6810A>G (p.Ala2270=)
|
|
|
NM_001378457.1(DMXL2):c.6833+10_6833+11del
|
|
|
NM_001378457.1(DMXL2):c.6833+11A>T
|
|
|
NM_001378457.1(DMXL2):c.6833+11del
|
rs11291027
|
|
NM_001378457.1(DMXL2):c.6833+11dup
|
rs11291027
|
|
NM_001378457.1(DMXL2):c.6833+13del
|
|
|
NM_001378457.1(DMXL2):c.6834-11A>T
|
|
|
NM_001378457.1(DMXL2):c.6834-15A>C
|
|
|
NM_001378457.1(DMXL2):c.6834-1G>T
|
|
|
NM_001378457.1(DMXL2):c.6834-7G>A
|
|
|
NM_001378457.1(DMXL2):c.6849A>C (p.Gly2283=)
|
rs776786543
|
|
NM_001378457.1(DMXL2):c.6849A>G (p.Gly2283=)
|
|
|
NM_001378457.1(DMXL2):c.6870T>C (p.Ala2290=)
|
|
|
NM_001378457.1(DMXL2):c.6874C>A (p.Gln2292Lys)
|
|
|
NM_001378457.1(DMXL2):c.6895C>T (p.Arg2299Cys)
|
|
|
NM_001378457.1(DMXL2):c.6897T>C (p.Arg2299=)
|
|
|
NM_001378457.1(DMXL2):c.6898A>G (p.Arg2300Gly)
|
|
|
NM_001378457.1(DMXL2):c.6912A>C (p.Thr2304=)
|
|
|
NM_001378457.1(DMXL2):c.6920T>C (p.Ile2307Thr)
|
|
|
NM_001378457.1(DMXL2):c.6931G>A (p.Ala2311Thr)
|
|
|
NM_001378457.1(DMXL2):c.6932C>G (p.Ala2311Gly)
|
|
|
NM_001378457.1(DMXL2):c.6955C>T (p.Gln2319Ter)
|
rs1303032996
|
|
NM_001378457.1(DMXL2):c.6957A>G (p.Gln2319=)
|
|
|
NM_001378457.1(DMXL2):c.6960G>A (p.Trp2320Ter)
|
|
|
NM_001378457.1(DMXL2):c.6964+15G>A
|
rs1392560047
|
|
NM_001378457.1(DMXL2):c.6964+19A>C
|
|
|
NM_001378457.1(DMXL2):c.6964+3G>A
|
|
|
NM_001378457.1(DMXL2):c.6965-12A>G
|
|
|
NM_001378457.1(DMXL2):c.6965-138_6965-135del
|
rs148108403
|
|
NM_001378457.1(DMXL2):c.6965-14A>G
|
|
|
NM_001378457.1(DMXL2):c.6965-9C>A
|
|
|
NM_001378457.1(DMXL2):c.698G>A (p.Arg233Gln)
|
|
|
NM_001378457.1(DMXL2):c.6999C>G (p.Ala2333=)
|
|
|
NM_001378457.1(DMXL2):c.699A>C (p.Arg233=)
|
|
|
NM_001378457.1(DMXL2):c.69C>T (p.Val23=)
|
|
|
NM_001378457.1(DMXL2):c.7002A>G (p.Gln2334=)
|
|
|
NM_001378457.1(DMXL2):c.7020A>G (p.Lys2340=)
|
|
|
NM_001378457.1(DMXL2):c.7023G>A (p.Leu2341=)
|
|
|
NM_001378457.1(DMXL2):c.7031del (p.Leu2344fs)
|
|
|
NM_001378457.1(DMXL2):c.7035A>G (p.Leu2345=)
|
rs771622423
|
|
NM_001378457.1(DMXL2):c.7036T>G (p.Cys2346Gly)
|
|
|
NM_001378457.1(DMXL2):c.7071G>T (p.Leu2357Phe)
|
|
|
NM_001378457.1(DMXL2):c.7074A>T (p.Ile2358=)
|
|
|
NM_001378457.1(DMXL2):c.7103A>T (p.Glu2368Val)
|
rs753513520
|
|
NM_001378457.1(DMXL2):c.710del (p.Gly237fs)
|
|
|
NM_001378457.1(DMXL2):c.7111C>T (p.Arg2371Trp)
|
|
|
NM_001378457.1(DMXL2):c.7113G>A (p.Arg2371=)
|
|
|
NM_001378457.1(DMXL2):c.7113G>T (p.Arg2371=)
|
|
|
NM_001378457.1(DMXL2):c.7130T>G (p.Leu2377Ter)
|
rs2140326306
|
|
NM_001378457.1(DMXL2):c.7138C>T (p.Arg2380Ter)
|
|
|
NM_001378457.1(DMXL2):c.7139G>A (p.Arg2380Gln)
|
|
|
NM_001378457.1(DMXL2):c.7149T>G (p.Ala2383=)
|
|
|
NM_001378457.1(DMXL2):c.7164C>T (p.Gly2388=)
|
|
|
NM_001378457.1(DMXL2):c.7165G>A (p.Gly2389Ser)
|
|
|
NM_001378457.1(DMXL2):c.7175T>C (p.Leu2392Pro)
|
rs760703966
|
|
NM_001378457.1(DMXL2):c.717G>A (p.Ser239=)
|
|
|
NM_001378457.1(DMXL2):c.717G>C (p.Ser239=)
|
|
|
NM_001378457.1(DMXL2):c.7190G>C (p.Arg2397Pro)
|
|
|
NM_001378457.1(DMXL2):c.7196A>G (p.Gln2399Arg)
|
|
|
NM_001378457.1(DMXL2):c.7207A>G (p.Ile2403Val)
|
|
|
NM_001378457.1(DMXL2):c.7213+15A>G
|
|
|
NM_001378457.1(DMXL2):c.7213+9C>A
|
|
|
NM_001378457.1(DMXL2):c.7213+9C>T
|
|
|
NM_001378457.1(DMXL2):c.7214-10C>A
|
|
|
NM_001378457.1(DMXL2):c.7214-12A>C
|
|
|
NM_001378457.1(DMXL2):c.7214-14C>T
|
|
|
NM_001378457.1(DMXL2):c.7214-17del
|
|
|
NM_001378457.1(DMXL2):c.7214-19del
|
rs748680037
|
|
NM_001378457.1(DMXL2):c.7214-19dup
|
rs748680037
|
|
NM_001378457.1(DMXL2):c.7214-1G>T
|
|
|
NM_001378457.1(DMXL2):c.7214-2A>G
|
|
|
NM_001378457.1(DMXL2):c.7220C>T (p.Pro2407Leu)
|
|
|
NM_001378457.1(DMXL2):c.7234G>T (p.Asp2412Tyr)
|
|
|
NM_001378457.1(DMXL2):c.7242T>C (p.Asp2414=)
|
|
|
NM_001378457.1(DMXL2):c.7246C>T (p.His2416Tyr)
|
rs2140308932
|
|
NM_001378457.1(DMXL2):c.7268G>T (p.Arg2423Ile)
|
|
|
NM_001378457.1(DMXL2):c.7276G>A (p.Val2426Ile)
|
|
|
NM_001378457.1(DMXL2):c.7278C>T (p.Val2426=)
|
|
|
NM_001378457.1(DMXL2):c.7293A>G (p.Val2431=)
|
|
|
NM_001378457.1(DMXL2):c.7304C>T (p.Thr2435Ile)
|
|
|
NM_001378457.1(DMXL2):c.7305C>G (p.Thr2435=)
|
|
|
NM_001378457.1(DMXL2):c.7313C>T (p.Pro2438Leu)
|
|
|
NM_001378457.1(DMXL2):c.7314G>A (p.Pro2438=)
|
rs149207084
|
|
NM_001378457.1(DMXL2):c.7314G>T (p.Pro2438=)
|
rs149207084
|
|
NM_001378457.1(DMXL2):c.7319C>T (p.Pro2440Leu)
|
|
|
NM_001378457.1(DMXL2):c.7323A>G (p.Ala2441=)
|
|
|
NM_001378457.1(DMXL2):c.7329A>G (p.Arg2443=)
|
|
|
NM_001378457.1(DMXL2):c.7332A>G (p.Pro2444=)
|
|
|
NM_001378457.1(DMXL2):c.7334C>A (p.Ser2445Tyr)
|
|
|
NM_001378457.1(DMXL2):c.7335T>C (p.Ser2445=)
|
|
|
NM_001378457.1(DMXL2):c.7359C>A (p.Pro2453=)
|
|
|
NM_001378457.1(DMXL2):c.7359C>T (p.Pro2453=)
|
|
|
NM_001378457.1(DMXL2):c.7365del (p.Ser2456fs)
|
|
|
NM_001378457.1(DMXL2):c.7383T>C (p.Phe2461=)
|
|
|
NM_001378457.1(DMXL2):c.7388C>A (p.Ala2463Glu)
|
|
|
NM_001378457.1(DMXL2):c.7391A>C (p.Lys2464Thr)
|
|
|
NM_001378457.1(DMXL2):c.7392+15G>T
|
|
|
NM_001378457.1(DMXL2):c.7392+20C>T
|
|
|
NM_001378457.1(DMXL2):c.7392+8G>A
|
|
|
NM_001378457.1(DMXL2):c.7393-15T>C
|
|
|
NM_001378457.1(DMXL2):c.7393-20A>C
|
|
|
NM_001378457.1(DMXL2):c.7393-5T>C
|
|
|
NM_001378457.1(DMXL2):c.7393-8del
|
rs774058318
|
|
NM_001378457.1(DMXL2):c.73G>A (p.Asp25Asn)
|
|
|
NM_001378457.1(DMXL2):c.73G>C (p.Asp25His)
|
|
|
NM_001378457.1(DMXL2):c.7417_7418dup (p.Ile2475fs)
|
|
|
NM_001378457.1(DMXL2):c.7437T>G (p.Asp2479Glu)
|
|
|
NM_001378457.1(DMXL2):c.7442G>A (p.Ser2481Asn)
|
|
|
NM_001378457.1(DMXL2):c.7443C>T (p.Ser2481=)
|
|
|
NM_001378457.1(DMXL2):c.746+10A>G
|
rs746897413
|
|
NM_001378457.1(DMXL2):c.746+11T>C
|
|
|
NM_001378457.1(DMXL2):c.746+13A>T
|
|
|
NM_001378457.1(DMXL2):c.746+17A>G
|
|
|
NM_001378457.1(DMXL2):c.746+19G>A
|
|
|
NM_001378457.1(DMXL2):c.746+7T>G
|
|
|
NM_001378457.1(DMXL2):c.747-13T>A
|
|
|
NM_001378457.1(DMXL2):c.747-16T>C
|
|
|
NM_001378457.1(DMXL2):c.747-18_747-15del
|
|
|
NM_001378457.1(DMXL2):c.747-3T>C
|
|
|
NM_001378457.1(DMXL2):c.747-9T>G
|
|
|
NM_001378457.1(DMXL2):c.7484C>G (p.Thr2495Arg)
|
rs1356800244
|
|
NM_001378457.1(DMXL2):c.7485A>G (p.Thr2495=)
|
|
|
NM_001378457.1(DMXL2):c.7493A>C (p.Gln2498Pro)
|
|
|
NM_001378457.1(DMXL2):c.749G>A (p.Gly250Asp)
|
|
|
NM_001378457.1(DMXL2):c.749G>C (p.Gly250Ala)
|
|
|
NM_001378457.1(DMXL2):c.7500C>A (p.His2500Gln)
|
rs765432880
|
|
NM_001378457.1(DMXL2):c.7519A>G (p.Ser2507Gly)
|
|
|
NM_001378457.1(DMXL2):c.7520+16C>G
|
|
|
NM_001378457.1(DMXL2):c.7520+35del
|
rs10706765
|
|
NM_001378457.1(DMXL2):c.7521-12C>T
|
|
|
NM_001378457.1(DMXL2):c.7521-15C>A
|
|
|
NM_001378457.1(DMXL2):c.7521-17dup
|
|
|
NM_001378457.1(DMXL2):c.7521-20T>C
|
|
|
NM_001378457.1(DMXL2):c.7535A>T (p.His2512Leu)
|
|
|
NM_001378457.1(DMXL2):c.7555G>A (p.Ala2519Thr)
|
|
|
NM_001378457.1(DMXL2):c.7566T>C (p.Asn2522=)
|
|
|
NM_001378457.1(DMXL2):c.7567G>A (p.Val2523Ile)
|
|
|
NM_001378457.1(DMXL2):c.7582C>G (p.Pro2528Ala)
|
|
|
NM_001378457.1(DMXL2):c.7585A>G (p.Ile2529Val)
|
|
|
NM_001378457.1(DMXL2):c.7587T>C (p.Ile2529=)
|
|
|
NM_001378457.1(DMXL2):c.7591G>C (p.Gly2531Arg)
|
|
|
NM_001378457.1(DMXL2):c.7594C>G (p.Leu2532Val)
|
|
|
NM_001378457.1(DMXL2):c.7607-10C>T
|
|
|
NM_001378457.1(DMXL2):c.7607-4G>A
|
|
|
NM_001378457.1(DMXL2):c.7611G>A (p.Leu2537=)
|
|
|
NM_001378457.1(DMXL2):c.7626A>G (p.Pro2542=)
|
|
|
NM_001378457.1(DMXL2):c.7633A>G (p.Ile2545Val)
|
|
|
NM_001378457.1(DMXL2):c.7689T>G (p.Asp2563Glu)
|
|
|
NM_001378457.1(DMXL2):c.7689del (p.Gln2564fs)
|
|
|
NM_001378457.1(DMXL2):c.768G>C (p.Leu256Phe)
|
rs2140934597
|
|
NM_001378457.1(DMXL2):c.7704A>G (p.Pro2568=)
|
|
|
NM_001378457.1(DMXL2):c.7708C>A (p.Pro2570Thr)
|
|
|
NM_001378457.1(DMXL2):c.7709C>G (p.Pro2570Arg)
|
|
|
NM_001378457.1(DMXL2):c.7723A>G (p.Thr2575Ala)
|
|
|
NM_001378457.1(DMXL2):c.7727A>G (p.Tyr2576Cys)
|
|
|
NM_001378457.1(DMXL2):c.7728T>C (p.Tyr2576=)
|
|
|
NM_001378457.1(DMXL2):c.773C>G (p.Thr258Ser)
|
rs775220583
|
|
NM_001378457.1(DMXL2):c.7746G>C (p.Val2582=)
|
|
|
NM_001378457.1(DMXL2):c.7750G>A (p.Ala2584Thr)
|
rs1038852453
|
|
NM_001378457.1(DMXL2):c.7755A>T (p.Gly2585=)
|
|
|
NM_001378457.1(DMXL2):c.777A>G (p.Ser259=)
|
|
|
NM_001378457.1(DMXL2):c.7783C>A (p.Leu2595Ile)
|
|
|
NM_001378457.1(DMXL2):c.7789C>A (p.Pro2597Thr)
|
|
|
NM_001378457.1(DMXL2):c.7794A>G (p.Glu2598=)
|
|
|
NM_001378457.1(DMXL2):c.7808+14T>A
|
|
|
NM_001378457.1(DMXL2):c.7808+14T>C
|
|
|
NM_001378457.1(DMXL2):c.7808+16T>C
|
|
|
NM_001378457.1(DMXL2):c.7808+19T>G
|
|
|
NM_001378457.1(DMXL2):c.7808A>G (p.Lys2603Arg)
|
|
|
NM_001378457.1(DMXL2):c.7809-20A>G
|
|
|
NM_001378457.1(DMXL2):c.7809-3T>C
|
|
|
NM_001378457.1(DMXL2):c.7809-6del
|
rs746074258
|
|
NM_001378457.1(DMXL2):c.7809-6dup
|
|
|
NM_001378457.1(DMXL2):c.7814G>A (p.Arg2605Gln)
|
|
|
NM_001378457.1(DMXL2):c.7821T>A (p.Ser2607=)
|
|
|
NM_001378457.1(DMXL2):c.7840C>G (p.Arg2614Gly)
|
rs2140261684
|
|
NM_001378457.1(DMXL2):c.784G>C (p.Asp262His)
|
|
|
NM_001378457.1(DMXL2):c.7864C>G (p.Gln2622Glu)
|
|
|
NM_001378457.1(DMXL2):c.7870G>T (p.Val2624Phe)
|
|
|
NM_001378457.1(DMXL2):c.787G>A (p.Gly263Ser)
|
|
|
NM_001378457.1(DMXL2):c.7881G>A (p.Glu2627=)
|
|
|
NM_001378457.1(DMXL2):c.788G>A (p.Gly263Asp)
|
|
|
NM_001378457.1(DMXL2):c.7896T>C (p.Tyr2632=)
|
|
|
NM_001378457.1(DMXL2):c.78C>T (p.Val26=)
|
|
|
NM_001378457.1(DMXL2):c.790G>A (p.Val264Met)
|
|
|
NM_001378457.1(DMXL2):c.7923T>A (p.Ser2641Arg)
|
|
|
NM_001378457.1(DMXL2):c.7926+9A>G
|
|
|
NM_001378457.1(DMXL2):c.795C>T (p.Cys265=)
|
|
|
NM_001378457.1(DMXL2):c.7990-123GCT[6]
|
rs3830518
|
|
NM_001378457.1(DMXL2):c.7990-13G>C
|
|
|
NM_001378457.1(DMXL2):c.7994A>G (p.Glu2665Gly)
|
|
|
NM_001378457.1(DMXL2):c.79C>A (p.Pro27Thr)
|
|
|
NM_001378457.1(DMXL2):c.7C>G (p.Leu3Val)
|
|
|
NM_001378457.1(DMXL2):c.8001T>C (p.Asp2667=)
|
|
|
NM_001378457.1(DMXL2):c.8004G>A (p.Leu2668=)
|
rs2140236019
|
|
NM_001378457.1(DMXL2):c.8007C>T (p.Gly2669=)
|
|
|
NM_001378457.1(DMXL2):c.8031C>T (p.Val2677=)
|
|
|
NM_001378457.1(DMXL2):c.8043A>T (p.Glu2681Asp)
|
|
|
NM_001378457.1(DMXL2):c.8052G>T (p.Met2684Ile)
|
|
|
NM_001378457.1(DMXL2):c.8055C>A (p.Ile2685=)
|
|
|
NM_001378457.1(DMXL2):c.8061A>G (p.Ala2687=)
|
|
|
NM_001378457.1(DMXL2):c.8067T>G (p.Ser2689=)
|
|
|
NM_001378457.1(DMXL2):c.8074A>G (p.Lys2692Glu)
|
|
|
NM_001378457.1(DMXL2):c.8076+10C>A
|
|
|
NM_001378457.1(DMXL2):c.8076+10C>G
|
|
|
NM_001378457.1(DMXL2):c.8076+10C>T
|
|
|
NM_001378457.1(DMXL2):c.8076+12C>T
|
|
|
NM_001378457.1(DMXL2):c.8076+13A>G
|
|
|
NM_001378457.1(DMXL2):c.8076+16A>G
|
|
|
NM_001378457.1(DMXL2):c.8076+5A>G
|
|
|
NM_001378457.1(DMXL2):c.8076+8C>T
|
|
|
NM_001378457.1(DMXL2):c.8076+9T>A
|
|
|
NM_001378457.1(DMXL2):c.8077-11T>C
|
|
|
NM_001378457.1(DMXL2):c.8077-4A>G
|
|
|
NM_001378457.1(DMXL2):c.8077-4A>T
|
|
|
NM_001378457.1(DMXL2):c.8077-9G>A
|
|
|
NM_001378457.1(DMXL2):c.8081A>G (p.Asn2694Ser)
|
|
|
NM_001378457.1(DMXL2):c.8086A>T (p.Asn2696Tyr)
|
|
|
NM_001378457.1(DMXL2):c.8098T>C (p.Leu2700=)
|
|
|
NM_001378457.1(DMXL2):c.8099T>C (p.Leu2700Ser)
|
|
|
NM_001378457.1(DMXL2):c.809A>T (p.Glu270Val)
|
|
|
NM_001378457.1(DMXL2):c.8103T>C (p.Ala2701=)
|
|
|
NM_001378457.1(DMXL2):c.8112T>C (p.His2704=)
|
|
|
NM_001378457.1(DMXL2):c.8121A>G (p.Gln2707=)
|
|
|
NM_001378457.1(DMXL2):c.8127T>C (p.Leu2709=)
|
|
|
NM_001378457.1(DMXL2):c.8131G>A (p.Val2711Ile)
|
|
|
NM_001378457.1(DMXL2):c.8132T>A (p.Val2711Asp)
|
|
|
NM_001378457.1(DMXL2):c.8157A>C (p.Ser2719=)
|
|
|
NM_001378457.1(DMXL2):c.8164T>C (p.Trp2722Arg)
|
|
|
NM_001378457.1(DMXL2):c.8170G>A (p.Gly2724Arg)
|
|
|
NM_001378457.1(DMXL2):c.8178A>C (p.Glu2726Asp)
|
|
|
NM_001378457.1(DMXL2):c.8178A>T (p.Glu2726Asp)
|
|
|
NM_001378457.1(DMXL2):c.8180_8181del (p.Glu2726_Tyr2727insTer)
|
|
|
NM_001378457.1(DMXL2):c.8182G>C (p.Asp2728His)
|
|
|
NM_001378457.1(DMXL2):c.8183A>T (p.Asp2728Val)
|
|
|
NM_001378457.1(DMXL2):c.8185A>C (p.Arg2729=)
|
|
|
NM_001378457.1(DMXL2):c.8193C>T (p.Ser2731=)
|
rs1595888357
|
|
NM_001378457.1(DMXL2):c.8194A>G (p.Lys2732Glu)
|
|
|
NM_001378457.1(DMXL2):c.8198+13G>A
|
|
|
NM_001378457.1(DMXL2):c.8198+15C>T
|
|
|
NM_001378457.1(DMXL2):c.8198+16A>C
|
|
|
NM_001378457.1(DMXL2):c.8198+17C>T
|
|
|
NM_001378457.1(DMXL2):c.8198+5G>A
|
|
|
NM_001378457.1(DMXL2):c.8198+9C>T
|
|
|
NM_001378457.1(DMXL2):c.8199-16T>A
|
|
|
NM_001378457.1(DMXL2):c.8199-17A>G
|
|
|
NM_001378457.1(DMXL2):c.8199-20C>T
|
|
|
NM_001378457.1(DMXL2):c.8199-3C>T
|
rs1288929403
|
|
NM_001378457.1(DMXL2):c.8199-63T>G
|
rs930920
|
|
NM_001378457.1(DMXL2):c.8199-6T>C
|
|
|
NM_001378457.1(DMXL2):c.8211T>A (p.Val2737=)
|
|
|
NM_001378457.1(DMXL2):c.8218C>T (p.Arg2740Cys)
|
|
|
NM_001378457.1(DMXL2):c.8219G>A (p.Arg2740His)
|
|
|
NM_001378457.1(DMXL2):c.8226C>T (p.Ser2742=)
|
|
|
NM_001378457.1(DMXL2):c.8234C>G (p.Thr2745Ser)
|
|
|
NM_001378457.1(DMXL2):c.8244A>G (p.Gln2748=)
|
|
|
NM_001378457.1(DMXL2):c.8257T>G (p.Ser2753Ala)
|
|
|
NM_001378457.1(DMXL2):c.825A>G (p.Glu275=)
|
|
|
NM_001378457.1(DMXL2):c.8266G>A (p.Ala2756Thr)
|
|
|
NM_001378457.1(DMXL2):c.8274G>A (p.Gln2758=)
|
|
|
NM_001378457.1(DMXL2):c.8275G>T (p.Val2759Leu)
|
|
|
NM_001378457.1(DMXL2):c.8282C>T (p.Pro2761Leu)
|
|
|
NM_001378457.1(DMXL2):c.8295G>C (p.Leu2765=)
|
|
|
NM_001378457.1(DMXL2):c.8298A>G (p.Pro2766=)
|
|
|
NM_001378457.1(DMXL2):c.8302C>T (p.Leu2768=)
|
|
|
NM_001378457.1(DMXL2):c.8305G>A (p.Gly2769Ser)
|
|
|
NM_001378457.1(DMXL2):c.8307C>T (p.Gly2769=)
|
|
|
NM_001378457.1(DMXL2):c.8321G>T (p.Ser2774Ile)
|
|
|
NM_001378457.1(DMXL2):c.8330C>T (p.Ala2777Val)
|
|
|
NM_001378457.1(DMXL2):c.8332A>T (p.Ser2778Cys)
|
|
|
NM_001378457.1(DMXL2):c.8335G>A (p.Val2779Met)
|
|
|
NM_001378457.1(DMXL2):c.8337+17T>C
|
|
|
NM_001378457.1(DMXL2):c.8338-13T>C
|
|
|
NM_001378457.1(DMXL2):c.8338-18T>G
|
|
|
NM_001378457.1(DMXL2):c.8338-20T>C
|
|
|
NM_001378457.1(DMXL2):c.8338-20_8338-18del
|
|
|
NM_001378457.1(DMXL2):c.8349G>T (p.Arg2783Ser)
|
rs1223308863
|
|
NM_001378457.1(DMXL2):c.8362G>A (p.Val2788Ile)
|
|
|
NM_001378457.1(DMXL2):c.8373G>A (p.Met2791Ile)
|
rs2141210690
|
|
NM_001378457.1(DMXL2):c.8382C>T (p.His2794=)
|
rs2141210643
|
|
NM_001378457.1(DMXL2):c.8386G>A (p.Val2796Ile)
|
|
|
NM_001378457.1(DMXL2):c.8390A>G (p.His2797Arg)
|
|
|
NM_001378457.1(DMXL2):c.8398+16C>T
|
rs144407842
|
|
NM_001378457.1(DMXL2):c.8398+18A>C
|
|
|
NM_001378457.1(DMXL2):c.8398+8T>C
|
|
|
NM_001378457.1(DMXL2):c.8399-11T>A
|
|
|
NM_001378457.1(DMXL2):c.8399-11_8399-10del
|
|
|
NM_001378457.1(DMXL2):c.8399-15T>C
|
|
|
NM_001378457.1(DMXL2):c.8399-19T>A
|
|
|
NM_001378457.1(DMXL2):c.8399-21_8399-18dup
|
rs200181576
|
|
NM_001378457.1(DMXL2):c.8399-5T>C
|
|
|
NM_001378457.1(DMXL2):c.8399-7G>A
|
|
|
NM_001378457.1(DMXL2):c.8399-9G>C
|
|
|
NM_001378457.1(DMXL2):c.8408G>T (p.Gly2803Val)
|
|
|
NM_001378457.1(DMXL2):c.8412T>G (p.Ala2804=)
|
|
|
NM_001378457.1(DMXL2):c.8424T>C (p.Ser2808=)
|
|
|
NM_001378457.1(DMXL2):c.8444C>T (p.Thr2815Met)
|
|
|
NM_001378457.1(DMXL2):c.8445G>A (p.Thr2815=)
|
|
|
NM_001378457.1(DMXL2):c.8447G>A (p.Arg2816Gln)
|
|
|
NM_001378457.1(DMXL2):c.8448G>T (p.Arg2816=)
|
rs971197899
|
|
NM_001378457.1(DMXL2):c.8454G>A (p.Gln2818=)
|
|
|
NM_001378457.1(DMXL2):c.8457A>G (p.Gln2819=)
|
|
|
NM_001378457.1(DMXL2):c.8470C>T (p.Arg2824Cys)
|
|
|
NM_001378457.1(DMXL2):c.8471G>A (p.Arg2824His)
|
|
|
NM_001378457.1(DMXL2):c.8478T>G (p.Ala2826=)
|
|
|
NM_001378457.1(DMXL2):c.8479G>A (p.Gly2827Ser)
|
|
|
NM_001378457.1(DMXL2):c.8483A>C (p.Asn2828Thr)
|
|
|
NM_001378457.1(DMXL2):c.8483A>G (p.Asn2828Ser)
|
|
|
NM_001378457.1(DMXL2):c.8484T>C (p.Asn2828=)
|
|
|
NM_001378457.1(DMXL2):c.8486C>G (p.Ala2829Gly)
|
rs757637147
|
|
NM_001378457.1(DMXL2):c.8487A>G (p.Ala2829=)
|
|
|
NM_001378457.1(DMXL2):c.8487A>T (p.Ala2829=)
|
|
|
NM_001378457.1(DMXL2):c.8500T>C (p.Leu2834=)
|
|
|
NM_001378457.1(DMXL2):c.8502A>G (p.Leu2834=)
|
|
|
NM_001378457.1(DMXL2):c.8505T>C (p.Tyr2835=)
|
|
|
NM_001378457.1(DMXL2):c.8521A>C (p.Asn2841His)
|
|
|
NM_001378457.1(DMXL2):c.8526+13G>T
|
|
|
NM_001378457.1(DMXL2):c.8526+15G>T
|
|
|
NM_001378457.1(DMXL2):c.8526+20T>C
|
|
|
NM_001378457.1(DMXL2):c.8526+2T>C
|
|
|
NM_001378457.1(DMXL2):c.8526+8T>C
|
rs768003104
|
|
NM_001378457.1(DMXL2):c.8527-13A>G
|
|
|
NM_001378457.1(DMXL2):c.8527-2A>G
|
|
|
NM_001378457.1(DMXL2):c.8527-7C>G
|
|
|
NM_001378457.1(DMXL2):c.8527-8T>C
|
|
|
NM_001378457.1(DMXL2):c.8541T>C (p.Asp2847=)
|
|
|
NM_001378457.1(DMXL2):c.8542G>T (p.Gly2848Ter)
|
|
|
NM_001378457.1(DMXL2):c.8547G>A (p.Glu2849=)
|
|
|
NM_001378457.1(DMXL2):c.8550T>G (p.Gly2850=)
|
|
|
NM_001378457.1(DMXL2):c.8573A>T (p.Asn2858Ile)
|
|
|
NM_001378457.1(DMXL2):c.8586A>G (p.Ser2862=)
|
|
|
NM_001378457.1(DMXL2):c.859A>G (p.Thr287Ala)
|
|
|
NM_001378457.1(DMXL2):c.8604+11C>A
|
|
|
NM_001378457.1(DMXL2):c.8604+13A>C
|
|
|
NM_001378457.1(DMXL2):c.8604+15A>G
|
|
|
NM_001378457.1(DMXL2):c.8604+15_8604+17del
|
|
|
NM_001378457.1(DMXL2):c.8604+16T>C
|
|
|
NM_001378457.1(DMXL2):c.8604+20C>T
|
|
|
NM_001378457.1(DMXL2):c.8604+8_8604+12dup
|
|
|
NM_001378457.1(DMXL2):c.8605-18G>C
|
|
|
NM_001378457.1(DMXL2):c.8605-4G>A
|
|
|
NM_001378457.1(DMXL2):c.8605-4G>T
|
|
|
NM_001378457.1(DMXL2):c.8605-5C>T
|
|
|
NM_001378457.1(DMXL2):c.8605A>G (p.Ser2869Gly)
|
rs2141195655
|
|
NM_001378457.1(DMXL2):c.860C>A (p.Thr287Asn)
|
|
|
NM_001378457.1(DMXL2):c.8613G>A (p.Gln2871=)
|
|
|
NM_001378457.1(DMXL2):c.8618A>G (p.His2873Arg)
|
|
|
NM_001378457.1(DMXL2):c.8629A>G (p.Thr2877Ala)
|
|
|
NM_001378457.1(DMXL2):c.8686A>G (p.Asn2896Asp)
|
|
|
NM_001378457.1(DMXL2):c.8696+10C>G
|
|
|
NM_001378457.1(DMXL2):c.8696+12G>A
|
|
|
NM_001378457.1(DMXL2):c.8696+17G>A
|
|
|
NM_001378457.1(DMXL2):c.8697-15G>T
|
|
|
NM_001378457.1(DMXL2):c.8697-20T>C
|
|
|
NM_001378457.1(DMXL2):c.8697-5A>C
|
|
|
NM_001378457.1(DMXL2):c.8697-6T>C
|
rs1484377145
|
|
NM_001378457.1(DMXL2):c.87+10G>A
|
|
|
NM_001378457.1(DMXL2):c.87+12C>A
|
|
|
NM_001378457.1(DMXL2):c.87+13C>T
|
|
|
NM_001378457.1(DMXL2):c.87+14G>C
|
|
|
NM_001378457.1(DMXL2):c.87+15G>A
|
|
|
NM_001378457.1(DMXL2):c.8701G>A (p.Val2901Ile)
|
|
|
NM_001378457.1(DMXL2):c.8719T>C (p.Leu2907=)
|
|
|
NM_001378457.1(DMXL2):c.8730C>T (p.Pro2910=)
|
|
|
NM_001378457.1(DMXL2):c.8740C>G (p.Leu2914Val)
|
|
|
NM_001378457.1(DMXL2):c.8749+10G>T
|
|
|
NM_001378457.1(DMXL2):c.8749+11G>T
|
|
|
NM_001378457.1(DMXL2):c.8749+13C>G
|
|
|
NM_001378457.1(DMXL2):c.8749+15A>G
|
|
|
NM_001378457.1(DMXL2):c.8749+19T>C
|
|
|
NM_001378457.1(DMXL2):c.88-10_88-3dup
|
rs3078066
|
|
NM_001378457.1(DMXL2):c.88-10_88-9insTTTTTTTTTTTTTA
|
|
|
NM_001378457.1(DMXL2):c.88-11_88-3del
|
|
|
NM_001378457.1(DMXL2):c.88-11_88-3dup
|
rs3078066
|
|
NM_001378457.1(DMXL2):c.88-12_88-3dup
|
rs3078066
|
|
NM_001378457.1(DMXL2):c.88-13_88-3dup
|
rs3078066
|
|
NM_001378457.1(DMXL2):c.88-14_88-3dup
|
rs3078066
|
|
NM_001378457.1(DMXL2):c.88-15_88-3dup
|
rs3078066
|
|
NM_001378457.1(DMXL2):c.88-16_88-3dup
|
rs3078066
|
|
NM_001378457.1(DMXL2):c.88-17_88-3dup
|
rs3078066
|
|
NM_001378457.1(DMXL2):c.88-18_88-3dup
|
rs3078066
|
|
NM_001378457.1(DMXL2):c.88-19_88-3dup
|
rs3078066
|
|
NM_001378457.1(DMXL2):c.88-20T>C
|
|
|
NM_001378457.1(DMXL2):c.88-20_88-3dup
|
rs3078066
|
|
NM_001378457.1(DMXL2):c.88-21_88-20insC
|
|
|
NM_001378457.1(DMXL2):c.88-21_88-3dup
|
|
|
NM_001378457.1(DMXL2):c.88-22_88-3dup
|
|
|
NM_001378457.1(DMXL2):c.88-3_88-2insTTTTTTTTTTTTTTTTTTTTT
|
|
|
NM_001378457.1(DMXL2):c.88-3_88-2insTTTTTTTTTTTTTTTTTTTTTT
|
|
|
NM_001378457.1(DMXL2):c.88-3_88-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
|
|
|
NM_001378457.1(DMXL2):c.88-3_88-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
|
rs3078066
|
|
NM_001378457.1(DMXL2):c.88-3del
|
rs3078066
|
|
NM_001378457.1(DMXL2):c.88-3dup
|
|
|
NM_001378457.1(DMXL2):c.88-4_88-3del
|
|
|
NM_001378457.1(DMXL2):c.88-4_88-3dup
|
rs3078066
|
|
NM_001378457.1(DMXL2):c.88-5_88-3del
|
|
|
NM_001378457.1(DMXL2):c.88-5_88-3dup
|
rs3078066
|
|
NM_001378457.1(DMXL2):c.88-6_88-3del
|
|
|
NM_001378457.1(DMXL2):c.88-6_88-3dup
|
rs3078066
|
|
NM_001378457.1(DMXL2):c.88-7_88-3dup
|
rs3078066
|
|
NM_001378457.1(DMXL2):c.88-8_88-3dup
|
rs3078066
|
|
NM_001378457.1(DMXL2):c.88-9_88-3del
|
|
|
NM_001378457.1(DMXL2):c.88-9_88-3dup
|
rs3078066
|
|
NM_001378457.1(DMXL2):c.887C>T (p.Ser296Phe)
|
|
|
NM_001378457.1(DMXL2):c.890A>T (p.His297Leu)
|
|
|
NM_001378457.1(DMXL2):c.891T>C (p.His297=)
|
|
|
NM_001378457.1(DMXL2):c.8968-12G>C
|
|
|
NM_001378457.1(DMXL2):c.8968-36_8968-8dup
|
|
|
NM_001378457.1(DMXL2):c.8968-3T>C
|
|
|
NM_001378457.1(DMXL2):c.8968-6C>T
|
|
|
NM_001378457.1(DMXL2):c.8994A>G (p.Leu2998=)
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NM_001378457.1(DMXL2):c.9015A>C (p.Glu3005Asp)
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NM_001378457.1(DMXL2):c.9021T>C (p.Ala3007=)
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NM_001378457.1(DMXL2):c.9027G>A (p.Gln3009=)
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NM_001378457.1(DMXL2):c.9027G>C (p.Gln3009His)
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NM_001378457.1(DMXL2):c.9042C>T (p.Asn3014=)
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NM_001378457.1(DMXL2):c.9047G>A (p.Gly3016Glu)
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NM_001378457.1(DMXL2):c.9063G>A (p.Gln3021=)
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NM_001378457.1(DMXL2):c.9080G>A (p.Gly3027Asp)
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NM_001378457.1(DMXL2):c.9080del (p.Gly3027fs)
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NM_001378457.1(DMXL2):c.9083A>G (p.Asn3028Ser)
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NM_001378457.1(DMXL2):c.9090C>T (p.Leu3030=)
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NM_001378457.1(DMXL2):c.9094T>G (p.Ser3032Ala)
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NM_001378457.1(DMXL2):c.909C>A (p.Asp303Glu)
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rs1596202156
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NM_001378457.1(DMXL2):c.90A>G (p.Ala30=)
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rs1388317201
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NM_001378457.1(DMXL2):c.90A>T (p.Ala30=)
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NM_001378457.1(DMXL2):c.9114G>A (p.Thr3038=)
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NM_001378457.1(DMXL2):c.9120A>G (p.Lys3040=)
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NM_001378457.1(DMXL2):c.9134C>T (p.Pro3045Leu)
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NM_001378457.1(DMXL2):c.913A>G (p.Ile305Val)
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NM_001378457.1(DMXL2):c.9151C>T (p.Pro3051Ser)
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NM_001378457.1(DMXL2):c.915A>T (p.Ile305=)
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NM_001378457.1(DMXL2):c.9163_9165del (p.Leu3055del)
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NM_001378457.1(DMXL2):c.9164T>G (p.Leu3055Arg)
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NM_001378457.1(DMXL2):c.9167A>G (p.Asp3056Gly)
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NM_001378457.1(DMXL2):c.9172C>T (p.Leu3058=)
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NM_001378457.1(DMXL2):c.919C>T (p.His307Tyr)
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NM_001378457.1(DMXL2):c.91T>C (p.Tyr31His)
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NM_001378457.1(DMXL2):c.930+5T>G
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NM_001378457.1(DMXL2):c.930+6A>G
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NM_001378457.1(DMXL2):c.930+8A>G
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NM_001378457.1(DMXL2):c.931-10T>C
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NM_001378457.1(DMXL2):c.931-15A>G
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NM_001378457.1(DMXL2):c.931-16T>C
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NM_001378457.1(DMXL2):c.931-16T>G
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NM_001378457.1(DMXL2):c.931-20C>A
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NM_001378457.1(DMXL2):c.931-6T>C
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NM_001378457.1(DMXL2):c.934A>G (p.Ile312Val)
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NM_001378457.1(DMXL2):c.937C>T (p.His313Tyr)
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NM_001378457.1(DMXL2):c.963A>C (p.Gly321=)
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NM_001378457.1(DMXL2):c.96A>G (p.Gly32=)
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rs2051014731
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NM_001378457.1(DMXL2):c.96A>T (p.Gly32=)
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NM_001378457.1(DMXL2):c.985G>A (p.Val329Ile)
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NM_001378457.1(DMXL2):c.992A>G (p.His331Arg)
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NM_001378457.1(DMXL2):c.9G>A (p.Leu3=)
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rs1297353738
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