NM_001083116.3(PRF1):c.11G>A (p.Arg4His)
|
rs35418374
|
0.02616
|
NR_001566.1(TERC):n.58G>A
|
rs113487931
|
0.01733
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_002485.5(NBN):c.511A>G (p.Ile171Val)
|
rs61754966
|
0.00145
|
NM_001083116.3(PRF1):c.50del (p.Leu17fs)
|
rs147035858
|
0.00100
|
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)
|
rs77375493
|
0.00036
|
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)
|
rs28928907
|
0.00035
|
NM_005373.3(MPL):c.79+2T>A
|
rs146249964
|
0.00018
|
NM_001083116.3(PRF1):c.695G>A (p.Arg232His)
|
rs747380397
|
0.00013
|
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser)
|
rs768849283
|
0.00007
|
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser)
|
rs147462227
|
0.00007
|
NM_001083116.3(PRF1):c.666C>A (p.His222Gln)
|
rs751247865
|
0.00006
|
NM_005373.3(MPL):c.235_236del (p.Leu79fs)
|
rs587778514
|
0.00005
|
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter)
|
rs104894176
|
0.00003
|
NM_001083116.3(PRF1):c.1349C>T (p.Thr450Met)
|
rs189650890
|
0.00003
|
NM_001083116.3(PRF1):c.1337A>C (p.Gln446Pro)
|
rs751161742
|
0.00002
|
NM_001083116.3(PRF1):c.160C>T (p.Arg54Cys)
|
rs200430442
|
0.00002
|
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)
|
rs587782545
|
0.00002
|
NM_016038.4(SBDS):c.258+1G>C
|
rs113993992
|
0.00002
|
NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp)
|
rs752858869
|
0.00001
|
NM_001083116.3(PRF1):c.1090_1091del (p.Leu364fs)
|
rs771552960
|
0.00001
|
NM_001083116.3(PRF1):c.133G>A (p.Gly45Arg)
|
rs578092914
|
0.00001
|
NM_001083116.3(PRF1):c.658G>A (p.Gly220Ser)
|
rs776571416
|
0.00001
|
NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp)
|
rs28933973
|
0.00001
|
NM_001083116.3(PRF1):c.757G>A (p.Glu253Lys)
|
rs771076819
|
0.00001
|
NM_001083116.3(PRF1):c.895C>T (p.Arg299Cys)
|
rs902124045
|
0.00001
|
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)
|
rs767215758
|
0.00001
|
NM_002485.5(NBN):c.123del (p.Ser42fs)
|
rs587781891
|
0.00001
|
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)
|
rs730881857
|
0.00001
|
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)
|
rs730881864
|
0.00001
|
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)
|
rs1057516320
|
0.00001
|
NM_002485.5(NBN):c.842T>G (p.Leu281Ter)
|
rs786205135
|
0.00001
|
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu)
|
rs121913615
|
0.00001
|
NM_016038.4(SBDS):c.13del (p.Thr5fs)
|
rs772797192
|
0.00001
|
NM_016038.4(SBDS):c.652C>T (p.Arg218Ter)
|
rs113993998
|
0.00001
|
NR_001566.1(TERC):n.450G>A
|
rs199422287
|
0.00001
|
NM_000969.5(RPL5):c.74-1G>C
|
rs1553284997
|
|
NM_001083116.3(PRF1):c.1163G>T (p.Ser388Ile)
|
rs193302875
|
|
NM_001083116.3(PRF1):c.1168C>T (p.Arg390Ter)
|
rs760379846
|
|
NM_001083116.3(PRF1):c.1189_1190dup (p.His398fs)
|
rs1361687182
|
|
NM_001083116.3(PRF1):c.1246C>T (p.Gln416Ter)
|
rs193302876
|
|
NM_001083116.3(PRF1):c.1428del (p.Pro477_Leu478insTer)
|
|
|
NM_001083116.3(PRF1):c.148G>A (p.Val50Met)
|
rs776299562
|
|
NM_001083116.3(PRF1):c.150del (p.Thr51fs)
|
|
|
NM_001083116.3(PRF1):c.1519G>T (p.Glu507Ter)
|
|
|
NM_001083116.3(PRF1):c.185_195del (p.Asp62fs)
|
rs774071705
|
|
NM_001083116.3(PRF1):c.190C>T (p.Gln64Ter)
|
rs104894180
|
|
NM_001083116.3(PRF1):c.207del (p.Asp70fs)
|
rs786205093
|
|
NM_001083116.3(PRF1):c.394G>A (p.Gly132Arg)
|
|
|
NM_001083116.3(PRF1):c.449C>A (p.Ser150Ter)
|
|
|
NM_001083116.3(PRF1):c.657C>A (p.Tyr219Ter)
|
|
|
NM_001083116.3(PRF1):c.658G>C (p.Gly220Arg)
|
rs776571416
|
|
NM_001083116.3(PRF1):c.65del (p.Pro22fs)
|
|
|
NM_001083116.3(PRF1):c.694C>T (p.Arg232Cys)
|
|
|
NM_001083116.3(PRF1):c.806_812delinsCC (p.His269fs)
|
|
|
NM_001083116.3(PRF1):c.844AAG[3] (p.Lys285del)
|
rs745902829
|
|
NM_001083116.3(PRF1):c.916G>T (p.Gly306Cys)
|
|
|
NM_001083116.3(PRF1):c.938A>T (p.Asp313Val)
|
|
|
NM_001083116.3(PRF1):c.941_948delinsA (p.Leu314fs)
|
|
|
NM_002485.5(NBN):c.105_135del (p.Ile35fs)
|
rs730881840
|
|
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter)
|
rs121908974
|
|
NM_002485.5(NBN):c.1142del (p.Pro381fs)
|
rs587781969
|
|
NM_002485.5(NBN):c.1154_1155del (p.Lys385fs)
|
rs748513310
|
|
NM_002485.5(NBN):c.1397+1del
|
rs1060503467
|
|
NM_002485.5(NBN):c.1474C>T (p.Gln492Ter)
|
rs587782130
|
|
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs)
|
rs764884516
|
|
NM_002485.5(NBN):c.156_157del (p.Ser53fs)
|
rs767454740
|
|
NM_002485.5(NBN):c.1645A>T (p.Lys549Ter)
|
rs1810540992
|
|
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs)
|
rs766044684
|
|
NM_002485.5(NBN):c.1651dup (p.Arg551fs)
|
rs766044684
|
|
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter)
|
rs786201745
|
|
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)
|
rs864622143
|
|
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs)
|
rs762664474
|
|
NM_002485.5(NBN):c.317dup (p.Arg107fs)
|
rs745355767
|
|
NM_002485.5(NBN):c.589dup (p.Tyr197fs)
|
rs1586088924
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002485.5(NBN):c.698_701del (p.Lys233fs)
|
rs587780100
|
|
NM_002485.5(NBN):c.817dup (p.Thr273fs)
|
rs730881839
|
|
NM_002485.5(NBN):c.966C>A (p.Tyr322Ter)
|
rs748453607
|
|
NM_002485.5(NBN):c.974del (p.Pro325fs)
|
rs1554562110
|
|
NM_002485.5(NBN):c.995-2A>G
|
rs876659521
|
|
NM_002641.4(PIGA):c.1115del (p.Pro372fs)
|
rs587776725
|
|
NM_002641.4(PIGA):c.1188+1G>A
|
rs2147717286
|
|
NM_002641.4(PIGA):c.1188+2del
|
rs587776723
|
|
NM_002641.4(PIGA):c.1323_1324del (p.Leu442fs)
|
rs587776728
|
|
NM_002641.4(PIGA):c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA (p.Asp452delinsGluIleGluMetAspAspSerArgPheTyrHisTer)
|
rs786200912
|
|
NM_002641.4(PIGA):c.145G>A (p.Val49Met)
|
rs1569180100
|
|
NM_002641.4(PIGA):c.163C>T (p.Gln55Ter)
|
rs199422233
|
|
NM_002641.4(PIGA):c.249_250insGT (p.Thr84fs)
|
rs587776726
|
|
NM_002641.4(PIGA):c.294C>A (p.Tyr98Ter)
|
rs199422232
|
|
NM_002641.4(PIGA):c.350T>C (p.Phe117Ser)
|
rs2147723760
|
|
NM_002641.4(PIGA):c.431del (p.Thr144fs)
|
rs587776727
|
|
NM_002641.4(PIGA):c.459_460insA (p.His154fs)
|
rs587776724
|
|
NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs)
|
rs1555760738
|
|
NM_005373.3(MPL):c.1543_1544delinsAA (p.Trp515Lys)
|
rs121913616
|
|
NM_005373.3(MPL):c.1653+1del
|
rs755257605
|
|
NM_005373.3(MPL):c.367C>T (p.Arg123Ter)
|
rs1443655691
|
|
NM_005475.3(SH2B3):c.603_607del (p.Arg202fs)
|
rs587776885
|
|
NM_016038.4(SBDS):c.107del (p.Val36fs)
|
|
|
NM_016038.4(SBDS):c.120del (p.Ser41fs)
|
rs113993990
|
|
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)
|
rs113993991
|
|
NM_016038.4(SBDS):c.18del (p.Thr7fs)
|
rs1584439050
|
|
NM_016038.4(SBDS):c.297_300del (p.Glu99fs)
|
rs113993994
|
|
NM_016038.4(SBDS):c.307_308del (p.Gln103fs)
|
|
|
NR_001566.1(TERC):n.-100C>G
|
rs199422256
|
|
NR_001566.1(TERC):n.110_113del
|
rs199422270
|
|
NR_001566.1(TERC):n.117A>C
|
rs199422273
|
|
NR_001566.1(TERC):n.178G>A
|
rs199422275
|
|
NR_001566.1(TERC):n.180C>T
|
rs199422276
|
|
NR_001566.1(TERC):n.28_34del
|
rs199422259
|
|
NR_001566.1(TERC):n.305G>A
|
rs199422279
|
|
NR_001566.1(TERC):n.322G>A
|
rs199422280
|
|
NR_001566.1(TERC):n.323C>T
|
rs199422281
|
|
NR_001566.1(TERC):n.391_392del
|
rs199422283
|
|
NR_001566.1(TERC):n.72C>G
|
rs199422265
|
|