NM_001368894.2(PAX6):c.*356T>A
|
rs774392481
|
0.00945
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_005573.4(LMNB1):c.*284T>G
|
rs550205958
|
0.00297
|
NM_000057.4(BLM):c.1928G>A (p.Arg643His)
|
rs12720097
|
0.00278
|
NM_022455.5(NSD1):c.1149C>T (p.Ile383=)
|
rs34921128
|
0.00190
|
NM_001368894.2(PAX6):c.*357A>T
|
rs774473337
|
0.00189
|
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00172
|
NM_014679.5(CEP57):c.677G>A (p.Arg226His)
|
rs143711180
|
0.00168
|
NM_000057.4(BLM):c.2268A>G (p.Lys756=)
|
rs146013879
|
0.00163
|
NM_000304.4(PMP22):c.*205C>A
|
rs189734097
|
0.00154
|
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter)
|
rs147622517
|
0.00154
|
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser)
|
rs199784029
|
0.00138
|
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)
|
rs140524886
|
0.00115
|
NM_004715.5(CTDP1):c.1219T>C (p.Trp407Arg)
|
rs149090172
|
0.00103
|
NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00102
|
NM_001378120.1(MBD5):c.3754-9T>C
|
rs370173652
|
0.00100
|
NM_005573.4(LMNB1):c.*54A>T
|
rs370551700
|
0.00099
|
NM_000057.4(BLM):c.3879A>G (p.Glu1293=)
|
rs28377085
|
0.00098
|
NM_000057.4(BLM):c.3359-13A>G
|
rs200250931
|
0.00093
|
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)
|
rs35224686
|
0.00092
|
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile)
|
rs149754073
|
0.00086
|
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His)
|
rs34700927
|
0.00077
|
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=)
|
rs150296373
|
0.00077
|
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser)
|
rs200792504
|
0.00074
|
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=)
|
rs140815139
|
0.00073
|
NM_019066.5(MAGEL2):c.959C>A (p.Ala320Asp)
|
rs541606785
|
0.00070
|
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr)
|
rs199784139
|
0.00064
|
NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu)
|
rs141953425
|
0.00063
|
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu)
|
rs34995577
|
0.00061
|
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)
|
rs146504061
|
0.00056
|
NM_001211.6(BUB1B):c.1003G>C (p.Ala335Pro)
|
rs145184714
|
0.00056
|
NM_022455.5(NSD1):c.4473G>T (p.Ser1491=)
|
rs150920473
|
0.00054
|
NM_022455.5(NSD1):c.3000C>T (p.Ser1000=)
|
rs150854966
|
0.00052
|
NM_003836.7(DLK1):c.194A>G (p.His65Arg)
|
rs147224004
|
0.00051
|
NM_014679.5(CEP57):c.410A>C (p.Glu137Ala)
|
rs147712450
|
0.00051
|
NM_019040.5(ELP4):c.*3523del
|
rs886048188
|
0.00050
|
NM_014679.5(CEP57):c.572T>A (p.Leu191His)
|
rs150399616
|
0.00048
|
NM_000057.4(BLM):c.3020-15C>T
|
rs200210516
|
0.00047
|
NM_001211.6(BUB1B):c.2785G>A (p.Gly929Ser)
|
rs143232848
|
0.00045
|
NM_019066.5(MAGEL2):c.494C>T (p.Pro165Leu)
|
rs572249702
|
0.00045
|
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met)
|
rs201818223
|
0.00044
|
NM_000057.4(BLM):c.3798T>G (p.Val1266=)
|
rs138831180
|
0.00043
|
NM_000304.4(PMP22):c.*542C>T
|
rs184928176
|
0.00042
|
NM_001378120.1(MBD5):c.1382G>A (p.Arg461His)
|
rs139964770
|
0.00042
|
NM_001211.6(BUB1B):c.805A>G (p.Asn269Asp)
|
rs148159407
|
0.00041
|
NM_019066.5(MAGEL2):c.1423G>T (p.Ala475Ser)
|
rs760039339
|
0.00040
|
NM_000304.4(PMP22):c.-34-5C>T
|
rs375105159
|
0.00037
|
NM_181703.4(GJA5):c.995G>A (p.Arg332His)
|
rs116551187
|
0.00037
|
NM_001211.6(BUB1B):c.2389T>G (p.Ser797Ala)
|
rs150707631
|
0.00036
|
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln)
|
rs28932180
|
0.00036
|
NM_000304.4(PMP22):c.*1049C>G
|
rs750733887
|
0.00035
|
NM_000057.4(BLM):c.1467G>A (p.Arg489=)
|
rs56257041
|
0.00034
|
NM_000501.4(ELN):c.1358-199G>A
|
rs781963901
|
0.00034
|
NM_000501.4(ELN):c.647G>T (p.Gly216Val)
|
rs145612009
|
0.00034
|
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)
|
rs145022945
|
0.00032
|
NM_005573.4(LMNB1):c.676C>T (p.Arg226Cys)
|
rs142016804
|
0.00032
|
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)
|
rs1801256
|
0.00031
|
NM_004667.6(HERC2):c.10424C>T (p.Ser3475Phe)
|
rs148150960
|
0.00031
|
NM_019040.5(ELP4):c.*5016T>G
|
rs776894983
|
0.00031
|
NM_001002295.2(GATA3):c.-495G>C
|
rs556347150
|
0.00030
|
NM_001378414.1(HDAC4):c.1748C>T (p.Pro583Leu)
|
rs201187772
|
0.00030
|
NM_000057.4(BLM):c.43C>T (p.Arg15Cys)
|
rs148545569
|
0.00029
|
NM_001002295.2(GATA3):c.*575A>C
|
rs552915242
|
0.00029
|
NM_001211.6(BUB1B):c.2763G>C (p.Gln921His)
|
rs28989183
|
0.00029
|
NM_001211.6(BUB1B):c.1412C>T (p.Thr471Met)
|
rs117485407
|
0.00028
|
NM_001211.6(BUB1B):c.1227A>C (p.Glu409Asp)
|
rs28989188
|
0.00027
|
NM_000057.4(BLM):c.191A>T (p.Asp64Val)
|
rs140382474
|
0.00026
|
NM_001379200.1(TBX1):c.1336C>T (p.Pro446Ser)
|
rs201993443
|
0.00026
|
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg)
|
rs370633684
|
0.00026
|
NM_001330078.2(NRXN1):c.2190G>T (p.Gln730His)
|
rs199978276
|
0.00025
|
NM_001330078.2(NRXN1):c.3365-109939C>T
|
rs766942777
|
0.00024
|
NM_014679.5(CEP57):c.422A>G (p.Asn141Ser)
|
rs149196489
|
0.00024
|
NM_014679.5(CEP57):c.949C>T (p.His317Tyr)
|
rs140320103
|
0.00024
|
NM_022039.4(FBXW4):c.192G>A (p.Thr64=)
|
rs886046647
|
0.00024
|
NM_030665.4(RAI1):c.109G>A (p.Gly37Arg)
|
rs201393598
|
0.00024
|
NM_030665.4(RAI1):c.3589G>C (p.Gly1197Arg)
|
rs200719553
|
0.00024
|
NM_000057.4(BLM):c.4220G>A (p.Arg1407Lys)
|
rs557057587
|
0.00023
|
NM_004667.6(HERC2):c.5374A>G (p.Met1792Val)
|
rs138177581
|
0.00023
|
NM_000304.4(PMP22):c.*894C>T
|
rs916402753
|
0.00021
|
NM_000501.4(ELN):c.1373C>A (p.Ala458Glu)
|
rs149117932
|
0.00021
|
NM_001330078.2(NRXN1):c.1700T>G (p.Leu567Trp)
|
rs372311299
|
0.00021
|
NM_014679.5(CEP57):c.95C>T (p.Ser32Phe)
|
rs139110744
|
0.00021
|
NM_022039.4(FBXW4):c.1657G>A (p.Ala553Thr)
|
rs200476624
|
0.00021
|
NM_001368894.2(PAX6):c.*335T>C
|
rs766518284
|
0.00020
|
NM_001378454.1(ALMS1):c.8240T>G (p.Val2747Gly)
|
rs188857186
|
0.00020
|
NM_001379200.1(TBX1):c.1214C>T (p.Pro405Leu)
|
rs746812421
|
0.00020
|
NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu)
|
rs141065357
|
0.00020
|
NM_000057.4(BLM):c.-65C>T
|
rs577293550
|
0.00019
|
NM_001330078.2(NRXN1):c.302C>G (p.Ala101Gly)
|
rs200184823
|
0.00019
|
NM_014679.5(CEP57):c.1403T>A (p.Leu468Gln)
|
rs146538238
|
0.00019
|
NM_024426.6(WT1):c.193G>A (p.Gly65Arg)
|
rs374404615
|
0.00019
|
NM_000057.4(BLM):c.1927C>T (p.Arg643Cys)
|
rs373090621
|
0.00018
|
NM_000057.4(BLM):c.807C>T (p.Ser269=)
|
rs147850738
|
0.00018
|
NM_001211.6(BUB1B):c.179+5G>A
|
rs368869250
|
0.00018
|
NM_022455.5(NSD1):c.7352G>A (p.Arg2451Lys)
|
rs200115665
|
0.00018
|
NM_022455.5(NSD1):c.8071G>A (p.Ala2691Thr)
|
rs201823140
|
0.00018
|
NM_001002295.2(GATA3):c.*383T>G
|
rs116910852
|
0.00017
|
NM_001211.6(BUB1B):c.2777C>T (p.Thr926Ile)
|
rs74380950
|
0.00017
|
NM_022455.5(NSD1):c.1558G>A (p.Ala520Thr)
|
rs559617787
|
0.00017
|
NM_000057.4(BLM):c.3397A>G (p.Lys1133Glu)
|
rs145027663
|
0.00016
|
NM_000057.4(BLM):c.3751+10C>T
|
rs199685140
|
0.00016
|
NM_000304.4(PMP22):c.*3C>T
|
rs373690370
|
0.00016
|
NM_001211.6(BUB1B):c.1943C>T (p.Thr648Ile)
|
rs148348158
|
0.00016
|
NM_001378414.1(HDAC4):c.155G>A (p.Arg52His)
|
rs777568201
|
0.00016
|
NM_014679.5(CEP57):c.25G>A (p.Ala9Thr)
|
rs150749300
|
0.00016
|
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser)
|
rs373932824
|
0.00016
|
NM_144997.7(FLCN):c.113G>T (p.Ser38Ile)
|
rs139418842
|
0.00016
|
NM_144997.7(FLCN):c.1364A>G (p.Glu455Gly)
|
rs199786696
|
0.00016
|
NM_000057.4(BLM):c.274A>G (p.Asn92Asp)
|
rs200690226
|
0.00015
|
NM_000501.4(ELN):c.1675G>A (p.Val559Ile)
|
rs560081099
|
0.00015
|
NM_001378120.1(MBD5):c.4857C>T (p.Gly1619=)
|
rs543329958
|
0.00015
|
NM_022455.5(NSD1):c.8048A>G (p.Gln2683Arg)
|
rs374110615
|
0.00015
|
NM_000057.4(BLM):c.1702G>C (p.Glu568Gln)
|
rs1360373872
|
0.00014
|
NM_000057.4(BLM):c.842A>C (p.His281Pro)
|
rs202042636
|
0.00014
|
NM_000304.3(PMP22):c.-223C>T
|
rs549380262
|
0.00014
|
NM_001002295.2(GATA3):c.*952G>A
|
rs773450577
|
0.00014
|
NM_001211.6(BUB1B):c.2762A>T (p.Gln921Leu)
|
rs141119531
|
0.00014
|
NM_001378120.1(MBD5):c.826C>T (p.Pro276Ser)
|
rs376756158
|
0.00014
|
NM_014679.5(CEP57):c.1306G>C (p.Glu436Gln)
|
rs200955895
|
0.00014
|
NM_016111.4(TELO2):c.238C>A (p.His80Asn)
|
rs199863486
|
0.00014
|
NM_019066.5(MAGEL2):c.2660G>A (p.Arg887Gln)
|
rs199772480
|
0.00014
|
NM_019066.5(MAGEL2):c.539T>C (p.Val180Ala)
|
rs58729661
|
0.00014
|
NM_022039.4(FBXW4):c.*600G>A
|
rs1022774144
|
0.00014
|
NM_022455.5(NSD1):c.816C>A (p.Asn272Lys)
|
rs144524958
|
0.00014
|
NM_030665.4(RAI1):c.5653G>A (p.Asp1885Asn)
|
rs147844401
|
0.00014
|
NM_000057.4(BLM):c.-70G>T
|
rs552669203
|
0.00013
|
NM_000057.4(BLM):c.1519G>A (p.Glu507Lys)
|
rs192491153
|
0.00013
|
NM_000057.4(BLM):c.3044C>T (p.Thr1015Ile)
|
rs202196488
|
0.00013
|
NM_000057.4(BLM):c.3828G>A (p.Ala1276=)
|
rs369383272
|
0.00013
|
NM_000057.4(BLM):c.4113G>A (p.Thr1371=)
|
rs61754135
|
0.00013
|
NM_000304.4(PMP22):c.-134G>A
|
rs754758124
|
0.00013
|
NM_001002295.2(GATA3):c.990G>A (p.Arg330=)
|
rs374947324
|
0.00013
|
NM_001211.6(BUB1B):c.2351C>T (p.Ala784Val)
|
rs142705245
|
0.00013
|
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn)
|
rs80293130
|
0.00013
|
NM_005573.4(LMNB1):c.*270T>C
|
rs1021872186
|
0.00013
|
NM_000057.4(BLM):c.*142T>C
|
rs1040068612
|
0.00012
|
NM_000057.4(BLM):c.1087G>A (p.Ala363Thr)
|
rs200364297
|
0.00012
|
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys)
|
rs139610577
|
0.00012
|
NM_000304.4(PMP22):c.*243C>T
|
rs533987307
|
0.00012
|
NM_000501.4(ELN):c.35G>T (p.Gly12Val)
|
rs367634266
|
0.00012
|
NM_001378120.1(MBD5):c.763C>T (p.Pro255Ser)
|
rs183855575
|
0.00012
|
NM_014679.5(CEP57):c.764A>G (p.Asn255Ser)
|
rs768269976
|
0.00012
|
NM_016111.4(TELO2):c.1129C>T (p.Arg377Trp)
|
rs200293618
|
0.00012
|
NM_000057.4(BLM):c.1097T>C (p.Ile366Thr)
|
rs571152089
|
0.00011
|
NM_000057.4(BLM):c.1315A>G (p.Met439Val)
|
rs201231857
|
0.00011
|
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln)
|
rs201770808
|
0.00011
|
NM_000501.4(ELN):c.202G>A (p.Gly68Arg)
|
rs372566075
|
0.00011
|
NM_001211.6(BUB1B):c.1478C>T (p.Thr493Ile)
|
rs146795655
|
0.00011
|
NM_001211.6(BUB1B):c.1630C>T (p.Pro544Ser)
|
rs138332995
|
0.00011
|
NM_005573.4(LMNB1):c.*301T>C
|
rs960666703
|
0.00011
|
NM_022039.4(FBXW4):c.726-12G>T
|
rs755969920
|
0.00011
|
NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu)
|
rs140583358
|
0.00011
|
NM_024426.6(WT1):c.343C>T (p.Pro115Ser)
|
rs916583720
|
0.00011
|
NM_032322.4(RNF135):c.857G>A (p.Arg286His)
|
rs121918162
|
0.00011
|
NM_000057.4(BLM):c.2839A>G (p.Ile947Val)
|
rs189925962
|
0.00010
|
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly)
|
rs150631940
|
0.00010
|
NM_001211.6(BUB1B):c.2385+4G>C
|
rs202108787
|
0.00010
|
NM_016111.4(TELO2):c.2296G>A (p.Val766Met)
|
rs371675497
|
0.00010
|
NM_022455.5(NSD1):c.3500G>A (p.Arg1167His)
|
rs763399938
|
0.00010
|
NM_022455.5(NSD1):c.4605C>T (p.Arg1535=)
|
rs140229717
|
0.00010
|
NM_022455.5(NSD1):c.4966+6G>A
|
rs373129093
|
0.00010
|
NM_000057.4(BLM):c.2739C>T (p.Leu913=)
|
rs759223856
|
0.00009
|
NM_001378120.1(MBD5):c.2257C>A (p.Pro753Thr)
|
rs370340010
|
0.00009
|
NM_001378120.1(MBD5):c.935A>T (p.Lys312Ile)
|
rs146031838
|
0.00009
|
NM_001379200.1(TBX1):c.1402G>C (p.Val468Leu)
|
rs764197422
|
0.00009
|
NM_001379200.1(TBX1):c.284C>T (p.Pro95Leu)
|
rs775295536
|
0.00009
|
NM_001379200.1(TBX1):c.711C>T (p.His237=)
|
rs200021644
|
0.00009
|
NM_014679.5(CEP57):c.1057T>A (p.Ser353Thr)
|
rs544014488
|
0.00009
|
NM_014679.5(CEP57):c.818G>T (p.Arg273Met)
|
rs377308306
|
0.00009
|
NM_019066.5(MAGEL2):c.1468C>G (p.Pro490Ala)
|
rs933647897
|
0.00009
|
NM_022455.5(NSD1):c.4187C>T (p.Thr1396Met)
|
rs747298351
|
0.00009
|
NM_024426.6(WT1):c.1158G>A (p.Ser386=)
|
rs377446096
|
0.00009
|
NM_024426.6(WT1):c.421C>T (p.Pro141Ser)
|
rs750548251
|
0.00009
|
NM_030665.4(RAI1):c.3883C>T (p.Pro1295Ser)
|
rs372337877
|
0.00009
|
NM_000057.4(BLM):c.3310G>A (p.Gly1104Ser)
|
rs141269464
|
0.00008
|
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys)
|
rs140387675
|
0.00008
|
NM_000057.4(BLM):c.664G>A (p.Glu222Lys)
|
rs774075577
|
0.00008
|
NM_000304.4(PMP22):c.*544C>T
|
rs1329536994
|
0.00008
|
NM_000304.4(PMP22):c.*985C>T
|
rs886052610
|
0.00008
|
NM_001002295.2(GATA3):c.*656G>A
|
rs929190496
|
0.00008
|
NM_001211.6(BUB1B):c.1123G>A (p.Glu375Lys)
|
rs981618923
|
0.00008
|
NM_001211.6(BUB1B):c.2805C>G (p.Ile935Met)
|
rs550832943
|
0.00008
|
NM_001330078.2(NRXN1):c.1978G>A (p.Ala660Thr)
|
rs199939303
|
0.00008
|
NM_001378120.1(MBD5):c.1564C>T (p.Pro522Ser)
|
rs1161083244
|
0.00008
|
NM_001379200.1(TBX1):c.1252G>C (p.Glu418Gln)
|
rs776268518
|
0.00008
|
NM_014679.5(CEP57):c.1123A>C (p.Ser375Arg)
|
rs145833953
|
0.00008
|
NM_022455.5(NSD1):c.6259-8A>T
|
rs370529039
|
0.00008
|
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val)
|
rs398124386
|
0.00008
|
NM_024426.6(WT1):c.314C>G (p.Ala105Gly)
|
rs948061247
|
0.00008
|
NM_000057.4(BLM):c.1495T>A (p.Ser499Thr)
|
rs371965329
|
0.00007
|
NM_000057.4(BLM):c.2720C>T (p.Thr907Met)
|
rs367953471
|
0.00007
|
NM_000057.4(BLM):c.3358G>A (p.Gly1120Arg)
|
rs139773499
|
0.00007
|
NM_000501.4(ELN):c.403G>A (p.Gly135Arg)
|
rs373650953
|
0.00007
|
NM_001378120.1(MBD5):c.2840G>A (p.Gly947Glu)
|
rs114359726
|
0.00007
|
NM_001379200.1(TBX1):c.95C>T (p.Ala32Val)
|
rs1415687525
|
0.00007
|
NM_019040.5(ELP4):c.*2502G>A
|
rs886048185
|
0.00007
|
NM_022455.5(NSD1):c.142A>G (p.Met48Val)
|
rs200735877
|
0.00007
|
NM_024426.6(WT1):c.*574del
|
rs5030319
|
0.00007
|
NM_144997.7(FLCN):c.802C>T (p.Arg268Trp)
|
rs762370059
|
0.00007
|
NM_000057.4(BLM):c.1237G>A (p.Glu413Lys)
|
rs887921909
|
0.00006
|
NM_000057.4(BLM):c.1838C>T (p.Thr613Ile)
|
rs550417200
|
0.00006
|
NM_000057.4(BLM):c.1931T>A (p.Phe644Tyr)
|
rs371023654
|
0.00006
|
NM_000057.4(BLM):c.2237C>T (p.Ala746Val)
|
rs769498533
|
0.00006
|
NM_000057.4(BLM):c.2315C>T (p.Ala772Val)
|
rs765478171
|
0.00006
|
NM_000057.4(BLM):c.2475G>A (p.Pro825=)
|
rs147587050
|
0.00006
|
NM_000057.4(BLM):c.2619G>C (p.Lys873Asn)
|
rs146723808
|
0.00006
|
NM_000057.4(BLM):c.2898C>G (p.Leu966=)
|
rs201220226
|
0.00006
|
NM_000057.4(BLM):c.3062A>G (p.Asn1021Ser)
|
rs369629509
|
0.00006
|
NM_000057.4(BLM):c.3071A>G (p.Tyr1024Cys)
|
rs201676342
|
0.00006
|
NM_000057.4(BLM):c.3558+1G>T
|
rs148969222
|
0.00006
|
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr)
|
rs527291754
|
0.00006
|
NM_000057.4(BLM):c.4126A>G (p.Ile1376Val)
|
rs587779892
|
0.00006
|
NM_000057.4(BLM):c.542G>T (p.Ser181Ile)
|
rs587779893
|
0.00006
|
NM_000057.4(BLM):c.715G>A (p.Asp239Asn)
|
rs200756519
|
0.00006
|
NM_000057.4(BLM):c.800-3T>G
|
rs377266736
|
0.00006
|
NM_000057.4(BLM):c.808G>A (p.Glu270Lys)
|
rs762053925
|
0.00006
|
NM_000501.4(ELN):c.1543G>A (p.Val515Met)
|
rs376258672
|
0.00006
|
NM_001002295.2(GATA3):c.-40G>A
|
rs201178566
|
0.00006
|
NM_001042424.3(NSD2):c.*1922dup
|
rs886059331
|
0.00006
|
NM_001211.6(BUB1B):c.3028T>C (p.Ser1010Pro)
|
rs374968269
|
0.00006
|
NM_001211.6(BUB1B):c.464A>G (p.Tyr155Cys)
|
rs764923350
|
0.00006
|
NM_001211.6(BUB1B):c.907G>A (p.Ala303Thr)
|
rs746825915
|
0.00006
|
NM_001330078.2(NRXN1):c.4011G>C (p.Glu1337Asp)
|
rs200935246
|
0.00006
|
NM_001368894.2(PAX6):c.-368G>A
|
rs886048206
|
0.00006
|
NM_001378120.1(MBD5):c.1141T>C (p.Phe381Leu)
|
rs768570356
|
0.00006
|
NM_001378414.1(HDAC4):c.1649C>T (p.Pro550Leu)
|
rs151167488
|
0.00006
|
NM_001379200.1(TBX1):c.711+3G>A
|
rs376779775
|
0.00006
|
NM_004715.5(CTDP1):c.431C>T (p.Pro144Leu)
|
rs758618193
|
0.00006
|
NM_016111.4(TELO2):c.392G>A (p.Gly131Asp)
|
rs187225056
|
0.00006
|
NM_022039.4(FBXW4):c.1465G>A (p.Glu489Lys)
|
rs770518721
|
0.00006
|
NM_022455.5(NSD1):c.113A>G (p.Asn38Ser)
|
rs368524494
|
0.00006
|
NM_024426.6(WT1):c.121C>T (p.Pro41Ser)
|
rs926668379
|
0.00006
|
NM_024426.6(WT1):c.162C>G (p.Ser54Arg)
|
rs776954184
|
0.00006
|
NM_024426.6(WT1):c.29C>T (p.Ala10Val)
|
rs997104313
|
0.00006
|
NM_024426.6(WT1):c.689C>T (p.Thr230Met)
|
rs777166391
|
0.00006
|
NM_030665.4(RAI1):c.2594T>C (p.Leu865Pro)
|
rs138173790
|
0.00006
|
NM_030665.4(RAI1):c.3895G>A (p.Asp1299Asn)
|
rs750911924
|
0.00006
|
NM_030665.4(RAI1):c.5528T>C (p.Phe1843Ser)
|
rs145732429
|
0.00006
|
NM_144997.7(FLCN):c.1283C>T (p.Pro428Leu)
|
rs199889477
|
0.00006
|
NM_000057.4(BLM):c.1121A>G (p.His374Arg)
|
rs776225502
|
0.00005
|
NM_000057.4(BLM):c.1261G>A (p.Ala421Thr)
|
rs587779879
|
0.00005
|
NM_000057.4(BLM):c.1924G>A (p.Glu642Lys)
|
rs201458487
|
0.00005
|
NM_000057.4(BLM):c.3136G>A (p.Gly1046Ser)
|
rs373241803
|
0.00005
|
NM_000057.4(BLM):c.3229G>A (p.Val1077Met)
|
rs779096973
|
0.00005
|
NM_000057.4(BLM):c.361A>C (p.Thr121Pro)
|
rs774608080
|
0.00005
|
NM_000057.4(BLM):c.368A>G (p.Gln123Arg)
|
rs371223446
|
0.00005
|
NM_000057.4(BLM):c.371A>G (p.Asn124Ser)
|
rs770825975
|
0.00005
|
NM_000057.4(BLM):c.934T>G (p.Ser312Ala)
|
rs372454889
|
0.00005
|
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln)
|
rs145790362
|
0.00005
|
NM_001211.6(BUB1B):c.2995C>T (p.Arg999Trp)
|
rs201246315
|
0.00005
|
NM_001211.6(BUB1B):c.959A>G (p.Glu320Gly)
|
rs771382233
|
0.00005
|
NM_001330078.2(NRXN1):c.270G>T (p.Gln90His)
|
rs199960045
|
0.00005
|
NM_001378120.1(MBD5):c.370G>C (p.Val124Leu)
|
rs751595371
|
0.00005
|
NM_001378120.1(MBD5):c.4519A>G (p.Met1507Val)
|
rs572436251
|
0.00005
|
NM_001379200.1(TBX1):c.1082C>T (p.Pro361Leu)
|
rs1001921296
|
0.00005
|
NM_001379200.1(TBX1):c.1374C>G (p.His458Gln)
|
rs747623105
|
0.00005
|
NM_001379200.1(TBX1):c.1474G>A (p.Gly492Arg)
|
rs541198585
|
0.00005
|
NM_002049.4(GATA1):c.94G>A (p.Val32Ile)
|
rs782698349
|
0.00005
|
NM_004667.6(HERC2):c.8399G>A (p.Arg2800His)
|
rs368463146
|
0.00005
|
NM_005573.4(LMNB1):c.1010G>A (p.Arg337His)
|
rs994236399
|
0.00005
|
NM_014679.5(CEP57):c.676C>T (p.Arg226Cys)
|
rs144903440
|
0.00005
|
NM_014679.5(CEP57):c.751C>T (p.Pro251Ser)
|
rs149293164
|
0.00005
|
NM_022455.5(NSD1):c.*1014dup
|
rs886060448
|
0.00005
|
NM_022455.5(NSD1):c.2266A>G (p.Asn756Asp)
|
rs142657029
|
0.00005
|
NM_022455.5(NSD1):c.2399T>C (p.Met800Thr)
|
rs142023792
|
0.00005
|
NM_022455.5(NSD1):c.3068G>A (p.Arg1023Gln)
|
rs756022347
|
0.00005
|
NM_024426.6(WT1):c.730T>A (p.Phe244Ile)
|
rs771455202
|
0.00005
|
NM_144997.7(FLCN):c.86T>C (p.Leu29Pro)
|
rs150051278
|
0.00005
|
NM_144997.7(FLCN):c.952G>A (p.Glu318Lys)
|
rs756787389
|
0.00005
|
NM_153700.2(STRC):c.3275G>A (p.Cys1092Tyr)
|
rs727503447
|
0.00005
|
NM_000057.4(BLM):c.1415C>A (p.Thr472Asn)
|
rs368967327
|
0.00004
|
NM_000057.4(BLM):c.1630G>A (p.Glu544Lys)
|
rs752494229
|
0.00004
|
NM_000057.4(BLM):c.226C>A (p.Pro76Thr)
|
rs768843912
|
0.00004
|
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys)
|
rs55880859
|
0.00004
|
NM_000057.4(BLM):c.2432A>G (p.Tyr811Cys)
|
rs145029382
|
0.00004
|
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu)
|
rs201427280
|
0.00004
|
NM_000057.4(BLM):c.2696G>A (p.Arg899Gln)
|
rs748054605
|
0.00004
|
NM_000057.4(BLM):c.2950G>A (p.Gly984Arg)
|
rs755784410
|
0.00004
|
NM_000057.4(BLM):c.3031G>A (p.Gly1011Arg)
|
rs370073229
|
0.00004
|
NM_000057.4(BLM):c.3210+2dup
|
rs755232267
|
0.00004
|
NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu)
|
rs750532596
|
0.00004
|
NM_000057.4(BLM):c.3872C>T (p.Pro1291Leu)
|
rs373003917
|
0.00004
|
NM_000057.4(BLM):c.4061G>C (p.Gly1354Ala)
|
rs891751726
|
0.00004
|
NM_000057.4(BLM):c.4102T>A (p.Ser1368Thr)
|
rs587778104
|
0.00004
|
NM_000057.4(BLM):c.451A>G (p.Ile151Val)
|
rs780472557
|
0.00004
|
NM_000057.4(BLM):c.457G>C (p.Asp153His)
|
rs368158276
|
0.00004
|
NM_000057.4(BLM):c.722G>A (p.Gly241Asp)
|
rs200897029
|
0.00004
|
NM_000057.4(BLM):c.724C>T (p.Pro242Ser)
|
rs768513523
|
0.00004
|
NM_000057.4(BLM):c.847A>G (p.Thr283Ala)
|
rs149598003
|
0.00004
|
NM_000057.4(BLM):c.98C>T (p.Ser33Leu)
|
rs139282091
|
0.00004
|
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)
|
rs756046682
|
0.00004
|
NM_001002295.2(GATA3):c.*857A>T
|
rs886047304
|
0.00004
|
NM_001042424.3(NSD2):c.1902C>T (p.Asp634=)
|
rs746926553
|
0.00004
|
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp)
|
rs61750239
|
0.00004
|
NM_001211.6(BUB1B):c.1150A>G (p.Ser384Gly)
|
rs202114756
|
0.00004
|
NM_001211.6(BUB1B):c.125A>G (p.Gln42Arg)
|
rs368079817
|
0.00004
|
NM_001211.6(BUB1B):c.1361A>G (p.Lys454Arg)
|
rs373256667
|
0.00004
|
NM_001211.6(BUB1B):c.1382A>C (p.Gln461Pro)
|
rs747886467
|
0.00004
|
NM_001211.6(BUB1B):c.1973C>T (p.Thr658Ile)
|
rs373789523
|
0.00004
|
NM_001211.6(BUB1B):c.2030G>A (p.Arg677His)
|
rs557521971
|
0.00004
|
NM_001211.6(BUB1B):c.2658G>C (p.Arg886Ser)
|
rs146821149
|
0.00004
|
NM_001211.6(BUB1B):c.2866A>G (p.Ile956Val)
|
rs775844666
|
0.00004
|
NM_001211.6(BUB1B):c.2996G>A (p.Arg999Gln)
|
rs377612791
|
0.00004
|
NM_001211.6(BUB1B):c.542A>G (p.Gln181Arg)
|
rs375798678
|
0.00004
|
NM_001330078.2(NRXN1):c.3365-109902C>T
|
rs113067443
|
0.00004
|
NM_001330078.2(NRXN1):c.3407C>T (p.Thr1136Met)
|
rs138261348
|
0.00004
|
NM_001330078.2(NRXN1):c.4237G>A (p.Gly1413Ser)
|
rs200604893
|
0.00004
|
NM_001378120.1(MBD5):c.1489A>G (p.Ile497Val)
|
rs771672174
|
0.00004
|
NM_001378120.1(MBD5):c.2196C>G (p.Cys732Trp)
|
rs748328427
|
0.00004
|
NM_001378120.1(MBD5):c.2711G>A (p.Ser904Asn)
|
rs398124344
|
0.00004
|
NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile)
|
rs199626531
|
0.00004
|
NM_001378120.1(MBD5):c.4088T>C (p.Ile1363Thr)
|
rs748142226
|
0.00004
|
NM_001378120.1(MBD5):c.4505A>G (p.Tyr1502Cys)
|
rs773873513
|
0.00004
|
NM_001378120.1(MBD5):c.4732G>A (p.Val1578Ile)
|
rs376249586
|
0.00004
|
NM_001379200.1(TBX1):c.1085C>G (p.Ala362Gly)
|
rs569581176
|
0.00004
|
NM_001379200.1(TBX1):c.1127G>A (p.Arg376Gln)
|
rs548714133
|
0.00004
|
NM_001379200.1(TBX1):c.113G>A (p.Gly38Asp)
|
rs908778553
|
0.00004
|
NM_001379200.1(TBX1):c.544G>A (p.Ala182Thr)
|
rs1342897153
|
0.00004
|
NM_002397.5(MEF2C):c.34A>G (p.Met12Val)
|
rs965091526
|
0.00004
|
NM_002397.5(MEF2C):c.480T>C (p.Pro160=)
|
rs200518765
|
0.00004
|
NM_004667.6(HERC2):c.13612G>A (p.Val4538Met)
|
rs149338352
|
0.00004
|
NM_014679.5(CEP57):c.100T>C (p.Ser34Pro)
|
rs760029883
|
0.00004
|
NM_014679.5(CEP57):c.1256G>A (p.Arg419Gln)
|
rs780215823
|
0.00004
|
NM_014679.5(CEP57):c.440T>C (p.Leu147Ser)
|
rs143361668
|
0.00004
|
NM_014679.5(CEP57):c.926T>G (p.Leu309Arg)
|
rs567427808
|
0.00004
|
NM_016111.4(TELO2):c.1747G>A (p.Val583Ile)
|
rs775272837
|
0.00004
|
NM_022039.4(FBXW4):c.*606A>C
|
rs886046641
|
0.00004
|
NM_022455.5(NSD1):c.2350C>G (p.Gln784Glu)
|
rs374740802
|
0.00004
|
NM_022455.5(NSD1):c.3121A>G (p.Asn1041Asp)
|
rs770541943
|
0.00004
|
NM_022455.5(NSD1):c.3178C>T (p.Pro1060Ser)
|
rs188847458
|
0.00004
|
NM_022455.5(NSD1):c.3311A>G (p.His1104Arg)
|
rs758125212
|
0.00004
|
NM_022455.5(NSD1):c.4307A>G (p.Tyr1436Cys)
|
rs574641900
|
0.00004
|
NM_022455.5(NSD1):c.5635A>G (p.Ile1879Val)
|
rs746599803
|
0.00004
|
NM_022455.5(NSD1):c.7049T>C (p.Leu2350Pro)
|
rs750785772
|
0.00004
|
NM_024426.6(WT1):c.1150G>A (p.Val384Ile)
|
rs977244044
|
0.00004
|
NM_024426.6(WT1):c.70C>T (p.Arg24Cys)
|
rs878855086
|
0.00004
|
NM_024426.6(WT1):c.925A>G (p.Met309Val)
|
rs754336808
|
0.00004
|
NM_030665.4(RAI1):c.2200G>A (p.Ala734Thr)
|
rs780371904
|
0.00004
|
NM_030665.4(RAI1):c.4849C>T (p.Pro1617Ser)
|
rs767535015
|
0.00004
|
NM_144997.7(FLCN):c.707A>G (p.Asn236Ser)
|
rs1194767470
|
0.00004
|
NM_144997.7(FLCN):c.716G>A (p.Arg239His)
|
rs753948488
|
0.00004
|
NM_144997.7(FLCN):c.82C>T (p.Pro28Ser)
|
rs749758787
|
0.00004
|
NM_000057.4(BLM):c.-29C>T
|
rs886051549
|
0.00003
|
NM_000057.4(BLM):c.1100G>A (p.Ser367Asn)
|
rs772176483
|
0.00003
|
NM_000057.4(BLM):c.1387G>A (p.Val463Ile)
|
rs1028963834
|
0.00003
|
NM_000057.4(BLM):c.1396G>A (p.Gly466Arg)
|
rs747760482
|
0.00003
|
NM_000057.4(BLM):c.1544A>C (p.Asn515Thr)
|
rs765536045
|
0.00003
|
NM_000057.4(BLM):c.1936A>G (p.Ser646Gly)
|
rs370293537
|
0.00003
|
NM_000057.4(BLM):c.2452C>G (p.Arg818Gly)
|
rs1279814185
|
0.00003
|
NM_000057.4(BLM):c.2594A>G (p.Tyr865Cys)
|
rs777842626
|
0.00003
|
NM_000057.4(BLM):c.2822A>G (p.Gln941Arg)
|
rs762267785
|
0.00003
|
NM_000057.4(BLM):c.2840T>C (p.Ile947Thr)
|
rs1024172175
|
0.00003
|
NM_000057.4(BLM):c.3210+2del
|
rs587779886
|
0.00003
|
NM_000057.4(BLM):c.3422A>G (p.Asn1141Ser)
|
rs770370129
|
0.00003
|
NM_000057.4(BLM):c.3922G>A (p.Gly1308Arg)
|
rs768010078
|
0.00003
|
NM_000057.4(BLM):c.4022C>T (p.Ala1341Val)
|
rs201149857
|
0.00003
|
NM_000057.4(BLM):c.403G>T (p.Ala135Ser)
|
rs373832397
|
0.00003
|
NM_000057.4(BLM):c.4112C>T (p.Thr1371Met)
|
rs587779891
|
0.00003
|
NM_000057.4(BLM):c.4240T>C (p.Tyr1414His)
|
rs753800694
|
0.00003
|
NM_000057.4(BLM):c.820A>G (p.Asn274Asp)
|
rs750551907
|
0.00003
|
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu)
|
rs140085632
|
0.00003
|
NM_001002295.2(GATA3):c.*105A>G
|
rs886047300
|
0.00003
|
NM_001002295.2(GATA3):c.*746C>T
|
rs545858251
|
0.00003
|
NM_001002295.2(GATA3):c.-369-11C>T
|
rs886047297
|
0.00003
|
NM_001002295.2(GATA3):c.359C>T (p.Thr120Met)
|
rs750735308
|
0.00003
|
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser)
|
rs140258520
|
0.00003
|
NM_001145358.2(SIN3A):c.2783G>A (p.Arg928Gln)
|
rs367989965
|
0.00003
|
NM_001172509.2(SATB2):c.1660G>A (p.Val554Ile)
|
rs1201673032
|
0.00003
|
NM_001172509.2(SATB2):c.2182G>C (p.Ala728Pro)
|
rs377368865
|
0.00003
|
NM_001211.6(BUB1B):c.1220T>G (p.Val407Gly)
|
rs750703763
|
0.00003
|
NM_001211.6(BUB1B):c.1288+5G>A
|
rs770077868
|
0.00003
|
NM_001211.6(BUB1B):c.1535A>G (p.Glu512Gly)
|
rs747225593
|
0.00003
|
NM_001211.6(BUB1B):c.1847G>A (p.Arg616His)
|
rs556193159
|
0.00003
|
NM_001211.6(BUB1B):c.2072C>T (p.Ser691Leu)
|
rs200060772
|
0.00003
|
NM_001211.6(BUB1B):c.2092A>G (p.Ile698Val)
|
rs754481856
|
0.00003
|
NM_001211.6(BUB1B):c.2164T>C (p.Trp722Arg)
|
rs758664966
|
0.00003
|
NM_001211.6(BUB1B):c.2386-11A>G
|
rs751421137
|
0.00003
|
NM_001211.6(BUB1B):c.440T>C (p.Ile147Thr)
|
rs763623522
|
0.00003
|
NM_001211.6(BUB1B):c.484T>C (p.Tyr162His)
|
rs77520855
|
0.00003
|
NM_001211.6(BUB1B):c.517G>A (p.Ala173Thr)
|
rs756702953
|
0.00003
|
NM_001211.6(BUB1B):c.730C>T (p.Arg244Cys)
|
rs867444045
|
0.00003
|
NM_001211.6(BUB1B):c.814A>G (p.Ile272Val)
|
rs775204194
|
0.00003
|
NM_001330078.2(NRXN1):c.338C>T (p.Ala113Val)
|
rs201542547
|
0.00003
|
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=)
|
rs201481698
|
0.00003
|
NM_001372044.2(SHANK3):c.766C>T (p.Arg256Cys)
|
rs1030097250
|
0.00003
|
NM_001378120.1(MBD5):c.1135A>G (p.Thr379Ala)
|
rs959566693
|
0.00003
|
NM_001378120.1(MBD5):c.1198G>A (p.Val400Ile)
|
rs377568191
|
0.00003
|
NM_001378120.1(MBD5):c.1335G>C (p.Met445Ile)
|
rs748835022
|
0.00003
|
NM_001378120.1(MBD5):c.1633T>C (p.Ser545Pro)
|
rs775791197
|
0.00003
|
NM_001378120.1(MBD5):c.1849C>T (p.His617Tyr)
|
rs367876435
|
0.00003
|
NM_001378120.1(MBD5):c.2101A>G (p.Met701Val)
|
rs398124343
|
0.00003
|
NM_001378120.1(MBD5):c.2122A>G (p.Met708Val)
|
rs796052721
|
0.00003
|
NM_001378120.1(MBD5):c.2165G>A (p.Gly722Asp)
|
rs1276079664
|
0.00003
|
NM_001378120.1(MBD5):c.2371G>A (p.Gly791Arg)
|
rs769480362
|
0.00003
|
NM_001378120.1(MBD5):c.2543T>G (p.Ile848Arg)
|
rs184415910
|
0.00003
|
NM_001378120.1(MBD5):c.2569G>A (p.Ala857Thr)
|
rs769330358
|
0.00003
|
NM_001378120.1(MBD5):c.2621C>A (p.Ala874Glu)
|
rs907317201
|
0.00003
|
NM_001378120.1(MBD5):c.3602C>T (p.Ser1201Leu)
|
rs200985982
|
0.00003
|
NM_001378120.1(MBD5):c.3680C>T (p.Ala1227Val)
|
rs773522192
|
0.00003
|
NM_001378120.1(MBD5):c.4586G>A (p.Arg1529Gln)
|
rs727504000
|
0.00003
|
NM_001378120.1(MBD5):c.4697A>G (p.Tyr1566Cys)
|
rs373234696
|
0.00003
|
NM_001378120.1(MBD5):c.4858G>A (p.Asp1620Asn)
|
rs750381367
|
0.00003
|
NM_001378120.1(MBD5):c.709A>G (p.Ile237Val)
|
rs751251720
|
0.00003
|
NM_001378120.1(MBD5):c.884C>G (p.Thr295Ser)
|
rs368339420
|
0.00003
|
NM_001378120.1(MBD5):c.961A>G (p.Met321Val)
|
rs369869865
|
0.00003
|
NM_001379200.1(TBX1):c.1401C>G (p.Pro467=)
|
rs753192876
|
0.00003
|
NM_001379200.1(TBX1):c.164C>T (p.Pro55Leu)
|
rs1464455403
|
0.00003
|
NM_001379200.1(TBX1):c.197C>T (p.Ala66Val)
|
rs1383914204
|
0.00003
|
NM_001379200.1(TBX1):c.351C>T (p.Ala117=)
|
rs757290764
|
0.00003
|
NM_004667.6(HERC2):c.7069+3G>A
|
rs778173804
|
0.00003
|
NM_004667.6(HERC2):c.8012C>G (p.Ala2671Gly)
|
rs759661460
|
0.00003
|
NM_014679.5(CEP57):c.1029T>A (p.Ser343Arg)
|
rs539891523
|
0.00003
|
NM_014679.5(CEP57):c.1171G>A (p.Val391Ile)
|
rs776303543
|
0.00003
|
NM_014679.5(CEP57):c.304A>G (p.Ile102Val)
|
rs760541284
|
0.00003
|
NM_014679.5(CEP57):c.37C>T (p.His13Tyr)
|
rs770949915
|
0.00003
|
NM_014679.5(CEP57):c.701T>G (p.Leu234Trp)
|
rs750192070
|
0.00003
|
NM_019040.5(ELP4):c.*1877A>G
|
rs745626044
|
0.00003
|
NM_019040.5(ELP4):c.*3504T>C
|
rs886048187
|
0.00003
|
NM_019040.5(ELP4):c.*3920C>T
|
rs886048191
|
0.00003
|
NM_022039.4(FBXW4):c.1549C>T (p.Arg517Trp)
|
rs140286143
|
0.00003
|
NM_022455.5(NSD1):c.*4596del
|
rs886060459
|
0.00003
|
NM_022455.5(NSD1):c.1224A>G (p.Gly408=)
|
rs587784069
|
0.00003
|
NM_022455.5(NSD1):c.2032A>G (p.Met678Val)
|
rs773904155
|
0.00003
|
NM_022455.5(NSD1):c.3272T>G (p.Leu1091Arg)
|
rs764231926
|
0.00003
|
NM_022455.5(NSD1):c.3649C>T (p.Pro1217Ser)
|
rs372004424
|
0.00003
|
NM_022455.5(NSD1):c.4328A>G (p.Asn1443Ser)
|
rs141911573
|
0.00003
|
NM_022455.5(NSD1):c.4332C>T (p.Gly1444=)
|
rs147235302
|
0.00003
|
NM_022455.5(NSD1):c.4858G>A (p.Val1620Ile)
|
rs774169673
|
0.00003
|
NM_022455.5(NSD1):c.6845C>G (p.Pro2282Arg)
|
rs539453877
|
0.00003
|
NM_022455.5(NSD1):c.7500G>C (p.Met2500Ile)
|
rs770120153
|
0.00003
|
NM_022455.5(NSD1):c.7531G>C (p.Asp2511His)
|
rs575229932
|
0.00003
|
NM_024426.6(WT1):c.1123C>T (p.Arg375Cys)
|
rs1172760612
|
0.00003
|
NM_024426.6(WT1):c.1124G>A (p.Arg375His)
|
rs554416372
|
0.00003
|
NM_024426.6(WT1):c.1142C>T (p.Pro381Leu)
|
rs1014605516
|
0.00003
|
NM_024426.6(WT1):c.1154G>A (p.Arg385Gln)
|
rs147241955
|
0.00003
|
NM_024426.6(WT1):c.151del (p.Ala51fs)
|
rs776155094
|
0.00003
|
NM_024426.6(WT1):c.397C>A (p.Pro133Thr)
|
rs1202603651
|
0.00003
|
NM_024426.6(WT1):c.419C>T (p.Pro140Leu)
|
rs1164390603
|
0.00003
|
NM_024426.6(WT1):c.475G>A (p.Glu159Lys)
|
rs768165877
|
0.00003
|
NM_024426.6(WT1):c.661+6T>C
|
rs557166021
|
0.00003
|
NM_030665.4(RAI1):c.1787G>A (p.Arg596Gln)
|
rs200001615
|
0.00003
|
NM_030665.4(RAI1):c.817C>T (p.Arg273Cys)
|
rs758637644
|
0.00003
|
NM_032322.4(RNF135):c.727C>T (p.Gln243Ter)
|
rs121918161
|
0.00003
|
NM_144997.7(FLCN):c.134C>G (p.Ala45Gly)
|
rs556510460
|
0.00003
|
NM_144997.7(FLCN):c.1373A>G (p.Gln458Arg)
|
rs150439088
|
0.00003
|
NM_144997.7(FLCN):c.139G>C (p.Glu47Gln)
|
rs369115472
|
0.00003
|
NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln)
|
rs748878853
|
0.00003
|
NM_144997.7(FLCN):c.1637A>G (p.Asn546Ser)
|
rs775149348
|
0.00003
|
NM_144997.7(FLCN):c.536G>A (p.Arg179Gln)
|
rs369906553
|
0.00003
|
NM_144997.7(FLCN):c.604G>A (p.Gly202Ser)
|
rs774491699
|
0.00003
|
NM_144997.7(FLCN):c.634C>A (p.Gln212Lys)
|
rs558699420
|
0.00003
|
NM_144997.7(FLCN):c.673G>A (p.Ala225Thr)
|
rs769250170
|
0.00003
|
NM_144997.7(FLCN):c.779+5C>T
|
rs745645385
|
0.00003
|
NM_000057.4(BLM):c.1148T>C (p.Ile383Thr)
|
rs556577644
|
0.00002
|
NM_000057.4(BLM):c.1208A>G (p.Gln403Arg)
|
rs375342874
|
0.00002
|
NM_000057.4(BLM):c.1235C>T (p.Thr412Met)
|
rs775209685
|
0.00002
|
NM_000057.4(BLM):c.124T>C (p.Ser42Pro)
|
rs1291378382
|
0.00002
|
NM_000057.4(BLM):c.1864T>C (p.Ser622Pro)
|
rs1033751385
|
0.00002
|
NM_000057.4(BLM):c.1877A>T (p.Tyr626Phe)
|
rs374569385
|
0.00002
|
NM_000057.4(BLM):c.1964T>C (p.Met655Thr)
|
rs748567176
|
0.00002
|
NM_000057.4(BLM):c.203C>A (p.Thr68Asn)
|
rs144134597
|
0.00002
|
NM_000057.4(BLM):c.2078G>A (p.Gly693Asp)
|
rs771864442
|
0.00002
|
NM_000057.4(BLM):c.2171T>C (p.Val724Ala)
|
rs750687788
|
0.00002
|
NM_000057.4(BLM):c.2350T>A (p.Tyr784Asn)
|
rs779746222
|
0.00002
|
NM_000057.4(BLM):c.2434A>C (p.Lys812Gln)
|
rs763827222
|
0.00002
|
NM_000057.4(BLM):c.2552A>G (p.Gln851Arg)
|
rs1454270314
|
0.00002
|
NM_000057.4(BLM):c.2633G>C (p.Cys878Ser)
|
rs966788239
|
0.00002
|
NM_000057.4(BLM):c.2795A>G (p.Gln932Arg)
|
rs1427273201
|
0.00002
|
NM_000057.4(BLM):c.3299T>G (p.Ile1100Arg)
|
rs755282763
|
0.00002
|
NM_000057.4(BLM):c.3305A>G (p.His1102Arg)
|
rs778994524
|
0.00002
|
NM_000057.4(BLM):c.3311G>A (p.Gly1104Asp)
|
rs150784889
|
0.00002
|
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln)
|
rs587779888
|
0.00002
|
NM_000057.4(BLM):c.3760T>G (p.Ser1254Ala)
|
rs781396294
|
0.00002
|
NM_000057.4(BLM):c.3770C>T (p.Pro1257Leu)
|
rs372134818
|
0.00002
|
NM_000057.4(BLM):c.3926G>C (p.Arg1309Thr)
|
rs1280067298
|
0.00002
|
NM_000057.4(BLM):c.3949G>A (p.Glu1317Lys)
|
rs730880251
|
0.00002
|
NM_000057.4(BLM):c.395G>A (p.Arg132Gln)
|
rs775197136
|
0.00002
|
NM_000057.4(BLM):c.397G>A (p.Asp133Asn)
|
rs762621627
|
0.00002
|
NM_000057.4(BLM):c.4016T>C (p.Met1339Thr)
|
rs761320085
|
0.00002
|
NM_000057.4(BLM):c.4237T>C (p.Ser1413Pro)
|
rs767443059
|
0.00002
|
NM_000057.4(BLM):c.467A>G (p.Asp156Gly)
|
rs772175681
|
0.00002
|
NM_000057.4(BLM):c.488C>T (p.Ser163Phe)
|
rs745819553
|
0.00002
|
NM_000057.4(BLM):c.493A>T (p.Thr165Ser)
|
rs769575660
|
0.00002
|
NM_000057.4(BLM):c.820A>T (p.Asn274Tyr)
|
rs750551907
|
0.00002
|
NM_000057.4(BLM):c.914C>G (p.Pro305Arg)
|
rs773421970
|
0.00002
|
NM_000304.4(PMP22):c.*174G>A
|
rs1386490077
|
0.00002
|
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp)
|
rs755701957
|
0.00002
|
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser)
|
rs375449671
|
0.00002
|
NM_001002295.2(GATA3):c.*1029C>T
|
rs530772797
|
0.00002
|
NM_001002295.2(GATA3):c.*1072C>A
|
rs886047306
|
0.00002
|
NM_001002295.2(GATA3):c.-561G>T
|
rs1486145282
|
0.00002
|
NM_001002295.2(GATA3):c.57C>T (p.Leu19=)
|
rs749900784
|
0.00002
|
NM_001002295.2(GATA3):c.605G>A (p.Arg202His)
|
rs767671768
|
0.00002
|
NM_001002295.2(GATA3):c.631G>A (p.Ala211Thr)
|
rs778421571
|
0.00002
|
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser)
|
rs786204313
|
0.00002
|
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala)
|
rs61748427
|
0.00002
|
NM_001172509.2(SATB2):c.1060A>G (p.Thr354Ala)
|
rs764552856
|
0.00002
|
NM_001172509.2(SATB2):c.211G>A (p.Gly71Ser)
|
rs756865617
|
0.00002
|
NM_001211.6(BUB1B):c.1262G>A (p.Arg421Gln)
|
rs150983783
|
0.00002
|
NM_001211.6(BUB1B):c.1444A>G (p.Ile482Val)
|
rs780725534
|
0.00002
|
NM_001211.6(BUB1B):c.1628+4C>T
|
rs1029721957
|
0.00002
|
NM_001211.6(BUB1B):c.1706C>T (p.Ser569Leu)
|
rs750961031
|
0.00002
|
NM_001211.6(BUB1B):c.1875A>G (p.Ile625Met)
|
rs541881263
|
0.00002
|
NM_001211.6(BUB1B):c.2477A>G (p.Tyr826Cys)
|
rs1268467915
|
0.00002
|
NM_001211.6(BUB1B):c.2530C>T (p.Leu844Phe)
|
rs28989181
|
0.00002
|
NM_001211.6(BUB1B):c.2810A>G (p.Glu937Gly)
|
rs755941900
|
0.00002
|
NM_001211.6(BUB1B):c.3020C>G (p.Ala1007Gly)
|
rs370506288
|
0.00002
|
NM_001211.6(BUB1B):c.3074C>T (p.Thr1025Ile)
|
rs770219125
|
0.00002
|
NM_001211.6(BUB1B):c.3082C>G (p.Gln1028Glu)
|
rs2037890025
|
0.00002
|
NM_001211.6(BUB1B):c.3113T>C (p.Val1038Ala)
|
rs776542291
|
0.00002
|
NM_001211.6(BUB1B):c.341G>A (p.Arg114Gln)
|
rs1372115983
|
0.00002
|
NM_001211.6(BUB1B):c.388C>T (p.Arg130Cys)
|
rs587778144
|
0.00002
|
NM_001211.6(BUB1B):c.389G>A (p.Arg130His)
|
rs748721987
|
0.00002
|
NM_001211.6(BUB1B):c.44T>C (p.Met15Thr)
|
rs1392369693
|
0.00002
|
NM_001211.6(BUB1B):c.463T>C (p.Tyr155His)
|
rs761819521
|
0.00002
|
NM_001211.6(BUB1B):c.572C>A (p.Ser191Tyr)
|
rs587778145
|
0.00002
|
NM_001211.6(BUB1B):c.581G>A (p.Arg194Gln)
|
rs567916146
|
0.00002
|
NM_001211.6(BUB1B):c.611C>G (p.Thr204Ser)
|
rs780541154
|
0.00002
|
NM_001211.6(BUB1B):c.751+4A>G
|
rs1248348421
|
0.00002
|
NM_001211.6(BUB1B):c.892C>T (p.Pro298Ser)
|
rs756759220
|
0.00002
|
NM_001211.6(BUB1B):c.922C>G (p.Leu308Val)
|
rs781357180
|
0.00002
|
NM_001211.6(BUB1B):c.954C>A (p.Ser318=)
|
rs556678544
|
0.00002
|
NM_001368894.2(PAX6):c.-430G>C
|
rs886048207
|
0.00002
|
NM_001378120.1(MBD5):c.1510A>G (p.Met504Val)
|
rs114251920
|
0.00002
|
NM_001378120.1(MBD5):c.1873C>T (p.Pro625Ser)
|
rs749574412
|
0.00002
|
NM_001378120.1(MBD5):c.2396C>T (p.Ser799Leu)
|
rs759990854
|
0.00002
|
NM_001378120.1(MBD5):c.2561A>G (p.Asn854Ser)
|
rs1358383505
|
0.00002
|
NM_001378120.1(MBD5):c.2632C>G (p.Pro878Ala)
|
rs752535474
|
0.00002
|
NM_001378120.1(MBD5):c.2770A>G (p.Ile924Val)
|
rs150408488
|
0.00002
|
NM_001378120.1(MBD5):c.3569C>A (p.Thr1190Asn)
|
rs774999439
|
0.00002
|
NM_001378120.1(MBD5):c.379A>C (p.Ser127Arg)
|
rs781432636
|
0.00002
|
NM_001378120.1(MBD5):c.3847C>G (p.Pro1283Ala)
|
rs764468729
|
0.00002
|
NM_001378120.1(MBD5):c.4138C>T (p.Arg1380Trp)
|
rs142293829
|
0.00002
|
NM_001378120.1(MBD5):c.4319G>A (p.Arg1440Gln)
|
rs139042949
|
0.00002
|
NM_001378120.1(MBD5):c.476C>T (p.Ser159Phe)
|
rs780774076
|
0.00002
|
NM_001378120.1(MBD5):c.4811C>T (p.Ser1604Phe)
|
rs774820392
|
0.00002
|
NM_001378120.1(MBD5):c.718A>G (p.Arg240Gly)
|
rs767317924
|
0.00002
|
NM_001378120.1(MBD5):c.952T>C (p.Ser318Pro)
|
rs745715010
|
0.00002
|
NM_001379200.1(TBX1):c.1186G>C (p.Gly396Arg)
|
rs1377774172
|
0.00002
|
NM_001379200.1(TBX1):c.1271C>G (p.Pro424Arg)
|
rs767961877
|
0.00002
|
NM_001379200.1(TBX1):c.1346G>A (p.Gly449Asp)
|
rs1177085596
|
0.00002
|
NM_001379200.1(TBX1):c.1386C>A (p.His462Gln)
|
rs1172793466
|
0.00002
|
NM_001379200.1(TBX1):c.1433C>T (p.Ala478Val)
|
rs757867291
|
0.00002
|
NM_001379200.1(TBX1):c.1462T>C (p.Tyr488His)
|
rs746250147
|
0.00002
|
NM_001379200.1(TBX1):c.1508C>G (p.Pro503Arg)
|
rs756769832
|
0.00002
|
NM_001379200.1(TBX1):c.286G>C (p.Glu96Gln)
|
rs762629442
|
0.00002
|
NM_001379200.1(TBX1):c.472G>A (p.Gly158Ser)
|
rs909599095
|
0.00002
|
NM_001379200.1(TBX1):c.922G>C (p.Asp308His)
|
rs750330152
|
0.00002
|
NM_001379200.1(TBX1):c.97G>T (p.Ala33Ser)
|
rs1359119941
|
0.00002
|
NM_002397.5(MEF2C):c.1100+3A>G
|
rs779821248
|
0.00002
|
NM_004237.4(TRIP13):c.712G>A (p.Asp238Asn)
|
rs769856470
|
0.00002
|
NM_004715.5(CTDP1):c.440C>T (p.Thr147Met)
|
rs143464787
|
0.00002
|
NM_005573.4(LMNB1):c.1161-6A>G
|
rs765920630
|
0.00002
|
NM_005573.4(LMNB1):c.360-8T>C
|
rs376081850
|
0.00002
|
NM_005573.4(LMNB1):c.853A>G (p.Thr285Ala)
|
rs374998378
|
0.00002
|
NM_014679.5(CEP57):c.1214T>C (p.Val405Ala)
|
rs763862458
|
0.00002
|
NM_014679.5(CEP57):c.1246A>G (p.Thr416Ala)
|
rs1370845733
|
0.00002
|
NM_014679.5(CEP57):c.1292A>C (p.Glu431Ala)
|
rs367799359
|
0.00002
|
NM_014679.5(CEP57):c.1354A>C (p.Ser452Arg)
|
rs1328502690
|
0.00002
|
NM_014679.5(CEP57):c.1415A>G (p.Glu472Gly)
|
rs554513774
|
0.00002
|
NM_014679.5(CEP57):c.1488G>C (p.Leu496Phe)
|
rs756433197
|
0.00002
|
NM_014679.5(CEP57):c.226C>G (p.Leu76Val)
|
rs368273217
|
0.00002
|
NM_014679.5(CEP57):c.23C>T (p.Ala8Val)
|
rs751018904
|
0.00002
|
NM_014679.5(CEP57):c.245G>A (p.Arg82His)
|
rs140149031
|
0.00002
|
NM_014679.5(CEP57):c.444A>C (p.Glu148Asp)
|
rs763144202
|
0.00002
|
NM_014679.5(CEP57):c.452G>A (p.Arg151Gln)
|
rs774404375
|
0.00002
|
NM_014679.5(CEP57):c.458T>C (p.Met153Thr)
|
rs759867272
|
0.00002
|
NM_014679.5(CEP57):c.504A>G (p.Gln168=)
|
rs754676360
|
0.00002
|
NM_014679.5(CEP57):c.524G>A (p.Arg175Gln)
|
rs768997831
|
0.00002
|
NM_014679.5(CEP57):c.581A>G (p.Gln194Arg)
|
rs1467274670
|
0.00002
|
NM_014679.5(CEP57):c.628A>G (p.Met210Val)
|
rs374700509
|
0.00002
|
NM_014679.5(CEP57):c.670A>G (p.Arg224Gly)
|
rs755140070
|
0.00002
|
NM_014679.5(CEP57):c.752C>T (p.Pro251Leu)
|
rs779531903
|
0.00002
|
NM_016628.5(WAC):c.140G>A (p.Arg47Gln)
|
rs374821442
|
0.00002
|
NM_016628.5(WAC):c.367A>C (p.Lys123Gln)
|
rs949649739
|
0.00002
|
NM_019066.5(MAGEL2):c.1640C>T (p.Pro547Leu)
|
rs1267794670
|
0.00002
|
NM_022455.5(NSD1):c.1801A>G (p.Lys601Glu)
|
rs780179136
|
0.00002
|
NM_022455.5(NSD1):c.209T>G (p.Ile70Ser)
|
rs760029045
|
0.00002
|
NM_022455.5(NSD1):c.2174C>T (p.Thr725Met)
|
rs774810620
|
0.00002
|
NM_022455.5(NSD1):c.2297C>T (p.Ser766Leu)
|
rs773591859
|
0.00002
|
NM_022455.5(NSD1):c.241A>G (p.Met81Val)
|
rs763781326
|
0.00002
|
NM_022455.5(NSD1):c.3599G>A (p.Arg1200Gln)
|
rs753389957
|
0.00002
|
NM_022455.5(NSD1):c.3697C>T (p.Arg1233Trp)
|
rs771467409
|
0.00002
|
NM_022455.5(NSD1):c.6848T>C (p.Leu2283Pro)
|
rs776592297
|
0.00002
|
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala)
|
rs754309202
|
0.00002
|
NM_022455.5(NSD1):c.7696A>G (p.Thr2566Ala)
|
rs778841211
|
0.00002
|
NM_022455.5(NSD1):c.7923T>C (p.Ala2641=)
|
rs147033795
|
0.00002
|
NM_024426.6(WT1):c.1092C>A (p.His364Gln)
|
rs587778756
|
0.00002
|
NM_024426.6(WT1):c.1121G>A (p.Arg374Gln)
|
rs772590420
|
0.00002
|
NM_024426.6(WT1):c.1304G>A (p.Arg435Gln)
|
rs144788858
|
0.00002
|
NM_024426.6(WT1):c.146G>T (p.Gly49Val)
|
rs1475923286
|
0.00002
|
NM_024426.6(WT1):c.218A>T (p.Gln73Leu)
|
rs1036899554
|
0.00002
|
NM_024426.6(WT1):c.248C>T (p.Ala83Val)
|
rs1278102757
|
0.00002
|
NM_024426.6(WT1):c.406C>A (p.Pro136Thr)
|
rs748045691
|
0.00002
|
NM_024426.6(WT1):c.586G>A (p.Gly196Ser)
|
rs756501972
|
0.00002
|
NM_024426.6(WT1):c.587G>A (p.Gly196Asp)
|
rs753112302
|
0.00002
|
NM_024426.6(WT1):c.628T>G (p.Cys210Gly)
|
rs776426005
|
0.00002
|
NM_024426.6(WT1):c.736A>G (p.Asn246Asp)
|
rs1285224919
|
0.00002
|
NM_024426.6(WT1):c.779C>T (p.Ser260Leu)
|
rs1444869026
|
0.00002
|
NM_024426.6(WT1):c.806C>G (p.Pro269Arg)
|
rs756078681
|
0.00002
|
NM_024426.6(WT1):c.830C>T (p.Thr277Ile)
|
rs138073760
|
0.00002
|
NM_024426.6(WT1):c.887+4G>A
|
rs778673400
|
0.00002
|
NM_030665.4(RAI1):c.239G>A (p.Arg80Gln)
|
rs372896387
|
0.00002
|
NM_030665.4(RAI1):c.3146C>T (p.Ser1049Leu)
|
rs755152385
|
0.00002
|
NM_030665.4(RAI1):c.3590G>T (p.Gly1197Val)
|
rs368975225
|
0.00002
|
NM_030665.4(RAI1):c.4051G>T (p.Ala1351Ser)
|
rs778842491
|
0.00002
|
NM_030665.4(RAI1):c.458C>T (p.Pro153Leu)
|
rs1468262694
|
0.00002
|
NM_030665.4(RAI1):c.5225G>T (p.Gly1742Val)
|
rs558768145
|
0.00002
|
NM_080680.3(COL11A2):c.3706C>T (p.Arg1236Cys)
|
rs751612997
|
0.00002
|
NM_144997.7(FLCN):c.1049G>A (p.Arg350Gln)
|
rs190786280
|
0.00002
|
NM_144997.7(FLCN):c.1084C>T (p.Arg362Cys)
|
rs557336321
|
0.00002
|
NM_144997.7(FLCN):c.1193G>C (p.Gly398Ala)
|
rs766801011
|
0.00002
|
NM_144997.7(FLCN):c.249+2C>T
|
rs939223011
|
0.00002
|
NM_144997.7(FLCN):c.396+6C>T
|
rs747922795
|
0.00002
|
NM_000057.4(BLM):c.*14A>G
|
rs746586885
|
0.00001
|
NM_000057.4(BLM):c.-59T>A
|
rs1438250598
|
0.00001
|
NM_000057.4(BLM):c.1006A>G (p.Ser336Gly)
|
rs1567037959
|
0.00001
|
NM_000057.4(BLM):c.1010C>T (p.Thr337Ile)
|
rs1176242752
|
0.00001
|
NM_000057.4(BLM):c.1027T>G (p.Ser343Ala)
|
rs776620199
|
0.00001
|
NM_000057.4(BLM):c.1032A>T (p.Lys344Asn)
|
rs148701303
|
0.00001
|
NM_000057.4(BLM):c.1039A>G (p.Lys347Glu)
|
rs375250788
|
0.00001
|
NM_000057.4(BLM):c.106A>G (p.Thr36Ala)
|
rs1714362154
|
0.00001
|
NM_000057.4(BLM):c.1091G>A (p.Arg364Lys)
|
rs1374291628
|
0.00001
|
NM_000057.4(BLM):c.1117A>G (p.Ile373Val)
|
rs766212032
|
0.00001
|
NM_000057.4(BLM):c.1154C>A (p.Thr385Asn)
|
rs202009716
|
0.00001
|
NM_000057.4(BLM):c.1156A>G (p.Ile386Val)
|
rs757636363
|
0.00001
|
NM_000057.4(BLM):c.1210C>T (p.Arg404Trp)
|
rs770721765
|
0.00001
|
NM_000057.4(BLM):c.1211G>A (p.Arg404Gln)
|
rs776516663
|
0.00001
|
NM_000057.4(BLM):c.1220+5C>G
|
rs1596229075
|
0.00001
|
NM_000057.4(BLM):c.1220G>T (p.Arg407Ile)
|
rs1350192744
|
0.00001
|
NM_000057.4(BLM):c.1223G>A (p.Arg408Lys)
|
rs1338335954
|
0.00001
|
NM_000057.4(BLM):c.122C>T (p.Thr41Ile)
|
rs533736036
|
0.00001
|
NM_000057.4(BLM):c.1238A>T (p.Glu413Val)
|
rs1215111361
|
0.00001
|
NM_000057.4(BLM):c.1277C>T (p.Ser426Leu)
|
rs768127491
|
0.00001
|
NM_000057.4(BLM):c.1288T>C (p.Tyr430His)
|
rs1314473930
|
0.00001
|
NM_000057.4(BLM):c.1303C>T (p.Leu435Phe)
|
rs755256088
|
0.00001
|
NM_000057.4(BLM):c.1337C>A (p.Thr446Lys)
|
rs1447973805
|
0.00001
|
NM_000057.4(BLM):c.1348A>G (p.Met450Val)
|
rs200385935
|
0.00001
|
NM_000057.4(BLM):c.137A>G (p.Asn46Ser)
|
rs1237910576
|
0.00001
|
NM_000057.4(BLM):c.1412C>T (p.Thr471Ile)
|
rs1281556342
|
0.00001
|
NM_000057.4(BLM):c.1417A>G (p.Thr473Ala)
|
rs1596229797
|
0.00001
|
NM_000057.4(BLM):c.1418C>T (p.Thr473Ile)
|
rs761284618
|
0.00001
|
NM_000057.4(BLM):c.1432G>A (p.Gly478Arg)
|
rs1490929990
|
0.00001
|
NM_000057.4(BLM):c.1433G>C (p.Gly478Ala)
|
rs759810567
|
0.00001
|
NM_000057.4(BLM):c.1436T>G (p.Phe479Cys)
|
rs1418071613
|
0.00001
|
NM_000057.4(BLM):c.1459T>C (p.Phe487Leu)
|
rs765565919
|
0.00001
|
NM_000057.4(BLM):c.1474T>C (p.Phe492Leu)
|
rs764182382
|
0.00001
|
NM_000057.4(BLM):c.1480A>G (p.Thr494Ala)
|
rs1596229967
|
0.00001
|
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg)
|
rs368547042
|
0.00001
|
NM_000057.4(BLM):c.1496C>T (p.Ser499Phe)
|
rs778700833
|
0.00001
|
NM_000057.4(BLM):c.1502T>A (p.Val501Glu)
|
rs1247170438
|
0.00001
|
NM_000057.4(BLM):c.1541A>G (p.Lys514Arg)
|
rs550463714
|
0.00001
|
NM_000057.4(BLM):c.1568A>T (p.Asn523Ile)
|
rs1385248707
|
0.00001
|
NM_000057.4(BLM):c.1612G>C (p.Ala538Pro)
|
rs1318049766
|
0.00001
|
NM_000057.4(BLM):c.1613C>T (p.Ala538Val)
|
rs778593808
|
0.00001
|
NM_000057.4(BLM):c.1640C>T (p.Thr547Ile)
|
rs758161226
|
0.00001
|
NM_000057.4(BLM):c.1652A>G (p.Tyr551Cys)
|
rs746571244
|
0.00001
|
NM_000057.4(BLM):c.1661A>T (p.Asp554Val)
|
rs1266070433
|
0.00001
|
NM_000057.4(BLM):c.1674A>T (p.Ile558=)
|
rs770573584
|
0.00001
|
NM_000057.4(BLM):c.1677T>A (p.Asp559Glu)
|
rs780794194
|
0.00001
|
NM_000057.4(BLM):c.1708A>T (p.Ile570Leu)
|
rs775758928
|
0.00001
|
NM_000057.4(BLM):c.1724C>T (p.Ala575Val)
|
rs774551420
|
0.00001
|
NM_000057.4(BLM):c.1739C>G (p.Ser580Cys)
|
rs1895974290
|
0.00001
|
NM_000057.4(BLM):c.1741A>G (p.Thr581Ala)
|
rs587778108
|
0.00001
|
NM_000057.4(BLM):c.1751A>G (p.Tyr584Cys)
|
rs765187809
|
0.00001
|
NM_000057.4(BLM):c.1769G>C (p.Gly590Ala)
|
rs758250947
|
0.00001
|
NM_000057.4(BLM):c.1771C>T (p.Arg591Trp)
|
rs777647725
|
0.00001
|
NM_000057.4(BLM):c.1772G>A (p.Arg591Gln)
|
rs28385012
|
0.00001
|
NM_000057.4(BLM):c.1774C>T (p.Pro592Ser)
|
rs1197143678
|
0.00001
|
NM_000057.4(BLM):c.1784C>T (p.Ser595Leu)
|
rs138943954
|
0.00001
|
NM_000057.4(BLM):c.1785A>T (p.Ser595=)
|
rs79871543
|
0.00001
|
NM_000057.4(BLM):c.1821T>G (p.Cys607Trp)
|
rs1207886252
|
0.00001
|
NM_000057.4(BLM):c.1825C>A (p.Pro609Thr)
|
rs770255643
|
0.00001
|
NM_000057.4(BLM):c.182G>C (p.Arg61Thr)
|
rs1060500644
|
0.00001
|
NM_000057.4(BLM):c.1833A>G (p.Ser611=)
|
rs747181657
|
0.00001
|
NM_000057.4(BLM):c.1841C>T (p.Ala614Val)
|
rs1285727934
|
0.00001
|
NM_000057.4(BLM):c.1849A>T (p.Ile617Leu)
|
rs1219301379
|
0.00001
|
NM_000057.4(BLM):c.186T>G (p.Asn62Lys)
|
rs146735953
|
0.00001
|
NM_000057.4(BLM):c.1913A>C (p.Asn638Thr)
|
rs587778110
|
0.00001
|
NM_000057.4(BLM):c.1954A>G (p.Thr652Ala)
|
rs779368359
|
0.00001
|
NM_000057.4(BLM):c.1955C>G (p.Thr652Arg)
|
rs1475280501
|
0.00001
|
NM_000057.4(BLM):c.1969A>G (p.Lys657Glu)
|
rs758782238
|
0.00001
|
NM_000057.4(BLM):c.2041C>T (p.Leu681Phe)
|
rs768774375
|
0.00001
|
NM_000057.4(BLM):c.2045G>A (p.Gly682Asp)
|
rs1342307269
|
0.00001
|
NM_000057.4(BLM):c.2051A>C (p.Asp684Ala)
|
rs1262628899
|
0.00001
|
NM_000057.4(BLM):c.2075G>T (p.Gly692Val)
|
rs1200392081
|
0.00001
|
NM_000057.4(BLM):c.2087G>A (p.Ser696Asn)
|
rs773097986
|
0.00001
|
NM_000057.4(BLM):c.214T>G (p.Ser72Ala)
|
rs146521411
|
0.00001
|
NM_000057.4(BLM):c.2161G>A (p.Val721Ile)
|
rs559554788
|
0.00001
|
NM_000057.4(BLM):c.2169A>G (p.Gln723=)
|
rs781635047
|
0.00001
|
NM_000057.4(BLM):c.2182A>G (p.Thr728Ala)
|
rs1440142847
|
0.00001
|
NM_000057.4(BLM):c.2193T>G (p.Asp731Glu)
|
rs756354696
|
0.00001
|
NM_000057.4(BLM):c.2207A>G (p.Tyr736Cys)
|
rs781008303
|
0.00001
|
NM_000057.4(BLM):c.2211G>C (p.Leu737=)
|
rs933356579
|
0.00001
|
NM_000057.4(BLM):c.2213C>G (p.Thr738Arg)
|
rs1474290499
|
0.00001
|
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)
|
rs786204471
|
0.00001
|
NM_000057.4(BLM):c.2271C>G (p.Asp757Glu)
|
rs773761682
|
0.00001
|
NM_000057.4(BLM):c.2308-5C>T
|
rs957805754
|
0.00001
|
NM_000057.4(BLM):c.2321A>G (p.Asn774Ser)
|
rs1245556905
|
0.00001
|
NM_000057.4(BLM):c.2326C>T (p.Leu776Phe)
|
rs1483824560
|
0.00001
|
NM_000057.4(BLM):c.2340G>A (p.Leu780=)
|
rs756031754
|
0.00001
|
NM_000057.4(BLM):c.2347C>T (p.Leu783Phe)
|
rs1430052148
|
0.00001
|
NM_000057.4(BLM):c.2351A>G (p.Tyr784Cys)
|
rs753635754
|
0.00001
|
NM_000057.4(BLM):c.2357G>A (p.Arg786Lys)
|
rs369065966
|
0.00001
|
NM_000057.4(BLM):c.2360A>G (p.Lys787Arg)
|
rs778695045
|
0.00001
|
NM_000057.4(BLM):c.2367G>C (p.Leu789Phe)
|
rs1060500651
|
0.00001
|
NM_000057.4(BLM):c.2372G>A (p.Arg791His)
|
rs1322472868
|
0.00001
|
NM_000057.4(BLM):c.2381T>C (p.Ile794Thr)
|
rs373819952
|
0.00001
|
NM_000057.4(BLM):c.2407T>C (p.Trp803Arg)
|
rs148394770
|
0.00001
|
NM_000057.4(BLM):c.2422C>T (p.Arg808Cys)
|
rs759330541
|
0.00001
|
NM_000057.4(BLM):c.2423G>A (p.Arg808His)
|
rs1399382807
|
0.00001
|
NM_000057.4(BLM):c.2428G>C (p.Asp810His)
|
rs765143263
|
0.00001
|
NM_000057.4(BLM):c.2446A>G (p.Met816Val)
|
rs751100504
|
0.00001
|
NM_000057.4(BLM):c.2447T>A (p.Met816Lys)
|
rs1896237707
|
0.00001
|
NM_000057.4(BLM):c.2453G>A (p.Arg818His)
|
rs780514723
|
0.00001
|
NM_000057.4(BLM):c.2456A>G (p.Gln819Arg)
|
rs1265964518
|
0.00001
|
NM_000057.4(BLM):c.2474C>T (p.Pro825Leu)
|
rs749632465
|
0.00001
|
NM_000057.4(BLM):c.2489C>T (p.Thr830Met)
|
rs759545027
|
0.00001
|
NM_000057.4(BLM):c.2490G>A (p.Thr830=)
|
rs765233032
|
0.00001
|
NM_000057.4(BLM):c.2497G>A (p.Ala833Thr)
|
rs763918749
|
0.00001
|
NM_000057.4(BLM):c.2524C>A (p.Leu842Met)
|
rs1209722688
|
0.00001
|
NM_000057.4(BLM):c.2546G>A (p.Arg849Lys)
|
rs780523899
|
0.00001
|
NM_000057.4(BLM):c.2551C>G (p.Gln851Glu)
|
rs767638712
|
0.00001
|
NM_000057.4(BLM):c.2555+8G>A
|
rs1388713132
|
0.00001
|
NM_000057.4(BLM):c.2560A>G (p.Ser854Gly)
|
rs752969832
|
0.00001
|
NM_000057.4(BLM):c.2561G>A (p.Ser854Asn)
|
rs758692622
|
0.00001
|
NM_000057.4(BLM):c.2635C>G (p.Leu879Val)
|
rs1461606733
|
0.00001
|
NM_000057.4(BLM):c.264C>A (p.Asp88Glu)
|
rs757984551
|
0.00001
|
NM_000057.4(BLM):c.2656C>A (p.His886Asn)
|
rs765636566
|
0.00001
|
NM_000057.4(BLM):c.2657A>C (p.His886Pro)
|
rs1420145471
|
0.00001
|
NM_000057.4(BLM):c.2662T>C (p.Tyr888His)
|
rs758696992
|
0.00001
|
NM_000057.4(BLM):c.2674A>G (p.Ile892Val)
|
rs764587569
|
0.00001
|
NM_000057.4(BLM):c.2717A>T (p.Asp906Val)
|
rs996189487
|
0.00001
|
NM_000057.4(BLM):c.2732A>G (p.Asp911Gly)
|
rs1596252149
|
0.00001
|
NM_000057.4(BLM):c.2740G>A (p.Ala914Thr)
|
rs372013507
|
0.00001
|
NM_000057.4(BLM):c.2744C>T (p.Ala915Val)
|
rs775026151
|
0.00001
|
NM_000057.4(BLM):c.2803A>G (p.Ile935Val)
|
rs774916971
|
0.00001
|
NM_000057.4(BLM):c.2806A>G (p.Asn936Asp)
|
rs1422513540
|
0.00001
|
NM_000057.4(BLM):c.2827A>G (p.Ile943Val)
|
rs1301812486
|
0.00001
|
NM_000057.4(BLM):c.2867C>T (p.Pro956Leu)
|
rs962069708
|
0.00001
|
NM_000057.4(BLM):c.2872G>A (p.Val958Met)
|
rs775006576
|
0.00001
|
NM_000057.4(BLM):c.2876G>A (p.Arg959Gln)
|
rs772585415
|
0.00001
|
NM_000057.4(BLM):c.2894C>G (p.Ser965Cys)
|
rs1567056595
|
0.00001
|
NM_000057.4(BLM):c.2915G>T (p.Gly972Val)
|
rs150475674
|
0.00001
|
NM_000057.4(BLM):c.2923C>G (p.Gln975Glu)
|
rs757148522
|
0.00001
|
NM_000057.4(BLM):c.2956A>G (p.Ile986Val)
|
rs1567056667
|
0.00001
|
NM_000057.4(BLM):c.2975T>C (p.Phe992Ser)
|
rs371418699
|
0.00001
|
NM_000057.4(BLM):c.2983T>C (p.Tyr995His)
|
rs142723411
|
0.00001
|
NM_000057.4(BLM):c.2987A>G (p.His996Arg)
|
rs1451226538
|
0.00001
|
NM_000057.4(BLM):c.3014T>C (p.Ile1005Thr)
|
rs772671554
|
0.00001
|
NM_000057.4(BLM):c.3017T>C (p.Met1006Thr)
|
rs1896890020
|
0.00001
|
NM_000057.4(BLM):c.3019+6C>G
|
rs773494621
|
0.00001
|
NM_000057.4(BLM):c.3021G>A (p.Met1007Ile)
|
rs1244649224
|
0.00001
|
NM_000057.4(BLM):c.302G>C (p.Arg101Thr)
|
rs781707344
|
0.00001
|
NM_000057.4(BLM):c.3076A>G (p.Met1026Val)
|
rs766225961
|
0.00001
|
NM_000057.4(BLM):c.3079G>A (p.Val1027Ile)
|
rs1300299815
|
0.00001
|
NM_000057.4(BLM):c.3098T>C (p.Ile1033Thr)
|
rs1060500647
|
0.00001
|
NM_000057.4(BLM):c.3103G>C (p.Glu1035Gln)
|
rs764965627
|
0.00001
|
NM_000057.4(BLM):c.3110G>A (p.Arg1037Lys)
|
rs990520268
|
0.00001
|
NM_000057.4(BLM):c.311C>T (p.Ser104Leu)
|
rs367543030
|
0.00001
|
NM_000057.4(BLM):c.3131A>G (p.Tyr1044Cys)
|
rs747571272
|
0.00001
|
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg)
|
rs746218707
|
0.00001
|
NM_000057.4(BLM):c.3172C>G (p.His1058Asp)
|
rs1351087442
|
0.00001
|
NM_000057.4(BLM):c.3210+4A>G
|
rs776621429
|
0.00001
|
NM_000057.4(BLM):c.3211G>T (p.Asp1071Tyr)
|
rs794727180
|
0.00001
|
NM_000057.4(BLM):c.3221C>T (p.Thr1074Ile)
|
rs144021705
|
0.00001
|
NM_000057.4(BLM):c.3226G>A (p.Asp1076Asn)
|
rs1306187879
|
0.00001
|
NM_000057.4(BLM):c.3236A>G (p.Asp1079Gly)
|
rs776714693
|
0.00001
|
NM_000057.4(BLM):c.3267A>G (p.Gln1089=)
|
rs1396484162
|
0.00001
|
NM_000057.4(BLM):c.3271C>T (p.His1091Tyr)
|
rs766959096
|
0.00001
|
NM_000057.4(BLM):c.3278C>T (p.Ser1093Leu)
|
rs367543017
|
0.00001
|
NM_000057.4(BLM):c.3293G>A (p.Arg1098Lys)
|
rs912777535
|
0.00001
|
NM_000057.4(BLM):c.3298A>G (p.Ile1100Val)
|
rs1897079693
|
0.00001
|
NM_000057.4(BLM):c.329A>G (p.Asp110Gly)
|
rs1292239409
|
0.00001
|
NM_000057.4(BLM):c.3307G>A (p.Val1103Ile)
|
rs748331529
|
0.00001
|
NM_000057.4(BLM):c.3308T>C (p.Val1103Ala)
|
rs1481919924
|
0.00001
|
NM_000057.4(BLM):c.3317C>G (p.Ser1106Cys)
|
rs769834593
|
0.00001
|
NM_000057.4(BLM):c.3331A>G (p.Met1111Val)
|
rs1169507483
|
0.00001
|
NM_000057.4(BLM):c.3341T>C (p.Leu1114Pro)
|
rs1444338168
|
0.00001
|
NM_000057.4(BLM):c.3371C>G (p.Ala1124Gly)
|
rs751765688
|
0.00001
|
NM_000057.4(BLM):c.3416G>A (p.Arg1139Gln)
|
rs771776126
|
0.00001
|
NM_000057.4(BLM):c.343C>T (p.Pro115Ser)
|
rs1173491187
|
0.00001
|
NM_000057.4(BLM):c.3449T>C (p.Ile1150Thr)
|
rs1378138456
|
0.00001
|
NM_000057.4(BLM):c.344C>T (p.Pro115Leu)
|
rs371100621
|
0.00001
|
NM_000057.4(BLM):c.3451C>T (p.Leu1151Phe)
|
rs1469527799
|
0.00001
|
NM_000057.4(BLM):c.3454G>T (p.Asp1152Tyr)
|
rs1156919580
|
0.00001
|
NM_000057.4(BLM):c.3478T>C (p.Tyr1160His)
|
rs752389778
|
0.00001
|
NM_000057.4(BLM):c.3485A>G (p.Asn1162Ser)
|
rs1237460907
|
0.00001
|
NM_000057.4(BLM):c.3491A>G (p.Asn1164Ser)
|
rs751855048
|
0.00001
|
NM_000057.4(BLM):c.3505G>A (p.Ala1169Thr)
|
rs777492549
|
0.00001
|
NM_000057.4(BLM):c.3509A>C (p.Tyr1170Ser)
|
rs746692894
|
0.00001
|
NM_000057.4(BLM):c.353T>C (p.Val118Ala)
|
rs768933887
|
0.00001
|
NM_000057.4(BLM):c.3558+3A>G
|
rs766386042
|
0.00001
|
NM_000057.4(BLM):c.3559G>A (p.Val1187Ile)
|
rs547814390
|
0.00001
|
NM_000057.4(BLM):c.3568A>G (p.Met1190Val)
|
rs764005828
|
0.00001
|
NM_000057.4(BLM):c.3569T>C (p.Met1190Thr)
|
rs1555424373
|
0.00001
|
NM_000057.4(BLM):c.3572A>G (p.Glu1191Gly)
|
rs1897232513
|
0.00001
|
NM_000057.4(BLM):c.3585C>T (p.Ser1195=)
|
rs1023322113
|
0.00001
|
NM_000057.4(BLM):c.3608C>T (p.Ala1203Val)
|
rs757088548
|
0.00001
|
NM_000057.4(BLM):c.3609G>A (p.Ala1203=)
|
rs151114049
|
0.00001
|
NM_000057.4(BLM):c.3636A>C (p.Glu1212Asp)
|
rs1897234564
|
0.00001
|
NM_000057.4(BLM):c.3637G>A (p.Glu1213Lys)
|
rs28385142
|
0.00001
|
NM_000057.4(BLM):c.3642G>A (p.Met1214Ile)
|
rs377253486
|
0.00001
|
NM_000057.4(BLM):c.3655C>G (p.Leu1219Val)
|
rs960821931
|
0.00001
|
NM_000057.4(BLM):c.3728C>T (p.Thr1243Ile)
|
rs972145772
|
0.00001
|
NM_000057.4(BLM):c.3752-13T>G
|
rs778248812
|
0.00001
|
NM_000057.4(BLM):c.377C>T (p.Pro126Leu)
|
rs1060500650
|
0.00001
|
NM_000057.4(BLM):c.3827C>T (p.Ala1276Val)
|
rs760554566
|
0.00001
|
NM_000057.4(BLM):c.3865A>T (p.Thr1289Ser)
|
rs1060500645
|
0.00001
|
NM_000057.4(BLM):c.3869C>T (p.Ser1290Leu)
|
rs1031421025
|
0.00001
|
NM_000057.4(BLM):c.3874G>A (p.Ala1292Thr)
|
rs757641454
|
0.00001
|
NM_000057.4(BLM):c.3875-2A>G
|
rs150421256
|
0.00001
|
NM_000057.4(BLM):c.3892G>A (p.Gly1298Arg)
|
rs587779889
|
0.00001
|
NM_000057.4(BLM):c.3923G>A (p.Gly1308Glu)
|
rs750865930
|
0.00001
|
NM_000057.4(BLM):c.3924A>T (p.Gly1308=)
|
rs1019687102
|
0.00001
|
NM_000057.4(BLM):c.3933C>T (p.Ala1311=)
|
rs756451802
|
0.00001
|
NM_000057.4(BLM):c.394C>T (p.Arg132Trp)
|
rs765089689
|
0.00001
|
NM_000057.4(BLM):c.3970C>T (p.His1324Tyr)
|
rs748943489
|
0.00001
|
NM_000057.4(BLM):c.3976T>A (p.Phe1326Ile)
|
rs1222912167
|
0.00001
|
NM_000057.4(BLM):c.3985A>G (p.Lys1329Glu)
|
rs190652985
|
0.00001
|
NM_000057.4(BLM):c.4017G>C (p.Met1339Ile)
|
rs1247422719
|
0.00001
|
NM_000057.4(BLM):c.4019C>T (p.Pro1340Leu)
|
rs766959130
|
0.00001
|
NM_000057.4(BLM):c.4024T>C (p.Ser1342Pro)
|
rs1596273687
|
0.00001
|
NM_000057.4(BLM):c.4025C>T (p.Ser1342Phe)
|
rs761200006
|
0.00001
|
NM_000057.4(BLM):c.4059T>A (p.Ser1353Arg)
|
rs1060500646
|
0.00001
|
NM_000057.4(BLM):c.4067A>G (p.Lys1356Arg)
|
rs945181516
|
0.00001
|
NM_000057.4(BLM):c.4076+3A>G
|
rs758564326
|
0.00001
|
NM_000057.4(BLM):c.4076G>A (p.Gly1359Glu)
|
rs1308799871
|
0.00001
|
NM_000057.4(BLM):c.4087A>G (p.Thr1363Ala)
|
rs1897524369
|
0.00001
|
NM_000057.4(BLM):c.4088C>T (p.Thr1363Ile)
|
rs1060500649
|
0.00001
|
NM_000057.4(BLM):c.4093A>G (p.Arg1365Gly)
|
rs759982203
|
0.00001
|
NM_000057.4(BLM):c.4094G>A (p.Arg1365Lys)
|
rs753011288
|
0.00001
|
NM_000057.4(BLM):c.4116A>C (p.Lys1372Asn)
|
rs753664070
|
0.00001
|
NM_000057.4(BLM):c.4130T>C (p.Ile1377Thr)
|
rs1555425416
|
0.00001
|
NM_000057.4(BLM):c.4140T>G (p.Ser1380Arg)
|
rs747834576
|
0.00001
|
NM_000057.4(BLM):c.4144G>C (p.Ala1382Pro)
|
rs771686396
|
0.00001
|
NM_000057.4(BLM):c.4177A>G (p.Asn1393Asp)
|
rs548600410
|
0.00001
|
NM_000057.4(BLM):c.4198G>A (p.Ala1400Thr)
|
rs370588118
|
0.00001
|
NM_000057.4(BLM):c.4205C>T (p.Pro1402Leu)
|
rs770313956
|
0.00001
|
NM_000057.4(BLM):c.4250C>T (p.Ser1417Leu)
|
rs1897533974
|
0.00001
|
NM_000057.4(BLM):c.437A>T (p.Asp146Val)
|
rs902876126
|
0.00001
|
NM_000057.4(BLM):c.44G>A (p.Arg15His)
|
rs752755503
|
0.00001
|
NM_000057.4(BLM):c.470T>C (p.Met157Thr)
|
rs773103759
|
0.00001
|
NM_000057.4(BLM):c.472G>A (p.Asp158Asn)
|
rs1210664602
|
0.00001
|
NM_000057.4(BLM):c.499A>G (p.Lys167Glu)
|
rs775285496
|
0.00001
|
NM_000057.4(BLM):c.506T>G (p.Phe169Cys)
|
rs1013299710
|
0.00001
|
NM_000057.4(BLM):c.555A>T (p.Lys185Asn)
|
rs766947105
|
0.00001
|
NM_000057.4(BLM):c.566G>A (p.Gly189Asp)
|
rs754306004
|
0.00001
|
NM_000057.4(BLM):c.572G>T (p.Arg191Ile)
|
rs569086568
|
0.00001
|
NM_000057.4(BLM):c.577T>C (p.Phe193Leu)
|
rs779348937
|
0.00001
|
NM_000057.4(BLM):c.607A>G (p.Thr203Ala)
|
rs1060500633
|
0.00001
|
NM_000057.4(BLM):c.632C>T (p.Pro211Leu)
|
rs758478914
|
0.00001
|
NM_000057.4(BLM):c.635C>T (p.Ser212Phe)
|
rs777938065
|
0.00001
|
NM_000057.4(BLM):c.641A>G (p.Glu214Gly)
|
rs1230930956
|
0.00001
|
NM_000057.4(BLM):c.646G>A (p.Glu216Lys)
|
rs779934502
|
0.00001
|
NM_000057.4(BLM):c.656A>G (p.Asp219Gly)
|
rs1246909789
|
0.00001
|
NM_000057.4(BLM):c.657T>G (p.Asp219Glu)
|
rs1447056195
|
0.00001
|
NM_000057.4(BLM):c.671A>C (p.Gln224Pro)
|
rs770111029
|
0.00001
|
NM_000057.4(BLM):c.671A>G (p.Gln224Arg)
|
rs770111029
|
0.00001
|
NM_000057.4(BLM):c.696C>A (p.Ser232Arg)
|
rs201845548
|
0.00001
|
NM_000057.4(BLM):c.700G>A (p.Asp234Asn)
|
rs878853555
|
0.00001
|
NM_000057.4(BLM):c.716A>G (p.Asp239Gly)
|
rs751699247
|
0.00001
|
NM_000057.4(BLM):c.725C>G (p.Pro242Arg)
|
rs1060500642
|
0.00001
|
NM_000057.4(BLM):c.727A>G (p.Ile243Val)
|
rs201722470
|
0.00001
|
NM_000057.4(BLM):c.763A>G (p.Ser255Gly)
|
rs1567035814
|
0.00001
|
NM_000057.4(BLM):c.790G>A (p.Asp264Asn)
|
rs763195731
|
0.00001
|
NM_000057.4(BLM):c.803A>G (p.Asn268Ser)
|
rs763432949
|
0.00001
|
NM_000057.4(BLM):c.805A>G (p.Ser269Gly)
|
rs141411463
|
0.00001
|
NM_000057.4(BLM):c.896A>G (p.Asp299Gly)
|
rs1418306226
|
0.00001
|
NM_000057.4(BLM):c.931G>T (p.Ala311Ser)
|
rs753911420
|
0.00001
|
NM_000057.4(BLM):c.98+6T>G
|
rs886051550
|
0.00001
|
NM_000057.4(BLM):c.992A>C (p.Lys331Thr)
|
rs1351404875
|
0.00001
|
NM_000304.4(PMP22):c.*907C>A
|
rs963622100
|
0.00001
|
NM_000304.4(PMP22):c.344C>T (p.Ala115Val)
|
rs148822354
|
0.00001
|
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys)
|
rs1022583382
|
0.00001
|
NM_000304.4(PMP22):c.74T>G (p.Val25Gly)
|
rs765741053
|
0.00001
|
NM_000501.4(ELN):c.1138G>A (p.Ala380Thr)
|
rs973649598
|
0.00001
|
NM_000501.4(ELN):c.1150G>A (p.Gly384Arg)
|
rs782359367
|
0.00001
|
NM_000501.4(ELN):c.134-16T>C
|
rs782791376
|
0.00001
|
NM_000501.4(ELN):c.893T>C (p.Val298Ala)
|
rs782205353
|
0.00001
|
NM_001002295.2(GATA3):c.*267G>A
|
rs886047301
|
0.00001
|
NM_001002295.2(GATA3):c.*320T>C
|
rs1003189936
|
0.00001
|
NM_001002295.2(GATA3):c.-148A>G
|
rs886047299
|
0.00001
|
NM_001002295.2(GATA3):c.1173G>A (p.Ser391=)
|
rs150229374
|
0.00001
|
NM_001002295.2(GATA3):c.1223C>T (p.Ser408Leu)
|
rs752977342
|
0.00001
|
NM_001002295.2(GATA3):c.1266G>A (p.Pro422=)
|
rs541782074
|
0.00001
|
NM_001002295.2(GATA3):c.209C>A (p.Ala70Asp)
|
rs761676499
|
0.00001
|
NM_001002295.2(GATA3):c.436G>A (p.Ala146Thr)
|
rs752779081
|
0.00001
|
NM_001002295.2(GATA3):c.489G>A (p.Pro163=)
|
rs766774125
|
0.00001
|
NM_001002295.2(GATA3):c.71C>T (p.Pro24Leu)
|
rs1485724723
|
0.00001
|
NM_001042424.3(NSD2):c.4090G>A (p.Gly1364Ser)
|
rs548852837
|
0.00001
|
NM_001089.3(ABCA3):c.4868C>T (p.Ala1623Val)
|
rs577998828
|
0.00001
|
NM_001145358.2(SIN3A):c.286G>A (p.Gly96Ser)
|
rs761104318
|
0.00001
|
NM_001145358.2(SIN3A):c.3614G>A (p.Arg1205His)
|
rs747873220
|
0.00001
|
NM_001172509.2(SATB2):c.1000G>A (p.Ala334Thr)
|
rs754385480
|
0.00001
|
NM_001172509.2(SATB2):c.1322T>C (p.Met441Thr)
|
rs1294387707
|
0.00001
|
NM_001172509.2(SATB2):c.1379C>A (p.Thr460Asn)
|
rs1329250891
|
0.00001
|
NM_001172509.2(SATB2):c.1397C>T (p.Ser466Leu)
|
rs780366664
|
0.00001
|
NM_001172509.2(SATB2):c.1402C>A (p.Pro468Thr)
|
rs770212471
|
0.00001
|
NM_001172509.2(SATB2):c.1403C>T (p.Pro468Leu)
|
rs746076990
|
0.00001
|
NM_001172509.2(SATB2):c.1447A>G (p.Ile483Val)
|
rs1367720345
|
0.00001
|
NM_001172509.2(SATB2):c.1671G>C (p.Glu557Asp)
|
rs377609161
|
0.00001
|
NM_001172509.2(SATB2):c.1704G>A (p.Met568Ile)
|
rs1042085577
|
0.00001
|
NM_001172509.2(SATB2):c.2047G>A (p.Ala683Thr)
|
rs372032415
|
0.00001
|
NM_001172509.2(SATB2):c.2183C>G (p.Ala728Gly)
|
rs140532313
|
0.00001
|
NM_001172509.2(SATB2):c.2196G>T (p.Gln732His)
|
rs778160560
|
0.00001
|
NM_001172509.2(SATB2):c.389A>G (p.Tyr130Cys)
|
rs372822699
|
0.00001
|
NM_001172509.2(SATB2):c.391G>C (p.Val131Leu)
|
rs1689785051
|
0.00001
|
NM_001172509.2(SATB2):c.410C>T (p.Ala137Val)
|
rs746240750
|
0.00001
|
NM_001172509.2(SATB2):c.638A>G (p.Asn213Ser)
|
rs1371535617
|
0.00001
|
NM_001172509.2(SATB2):c.650C>T (p.Thr217Ile)
|
rs777062011
|
0.00001
|
NM_001172509.2(SATB2):c.71A>G (p.Lys24Arg)
|
rs1176416627
|
0.00001
|
NM_001172509.2(SATB2):c.739G>A (p.Val247Ile)
|
rs767767817
|
0.00001
|
NM_001172509.2(SATB2):c.743T>G (p.Leu248Arg)
|
rs200620268
|
0.00001
|
NM_001172509.2(SATB2):c.76C>G (p.Pro26Ala)
|
rs1473042227
|
0.00001
|
NM_001172509.2(SATB2):c.772A>G (p.Met258Val)
|
rs200074373
|
0.00001
|
NM_001172509.2(SATB2):c.799A>G (p.Thr267Ala)
|
rs1410113037
|
0.00001
|
NM_001211.6(BUB1B):c.1043C>T (p.Ala348Val)
|
rs545784401
|
0.00001
|
NM_001211.6(BUB1B):c.107G>A (p.Arg36Gln)
|
rs534297115
|
0.00001
|
NM_001211.6(BUB1B):c.1083T>G (p.Ser361Arg)
|
rs1306309896
|
0.00001
|
NM_001211.6(BUB1B):c.1163C>T (p.Ala388Val)
|
rs771602632
|
0.00001
|
NM_001211.6(BUB1B):c.1246C>T (p.Arg416Trp)
|
rs755579898
|
0.00001
|
NM_001211.6(BUB1B):c.1291G>A (p.Glu431Lys)
|
rs781689041
|
0.00001
|
NM_001211.6(BUB1B):c.1299G>C (p.Leu433Phe)
|
rs753178226
|
0.00001
|
NM_001211.6(BUB1B):c.137C>G (p.Ala46Gly)
|
rs889926604
|
0.00001
|
NM_001211.6(BUB1B):c.1442A>C (p.Gln481Pro)
|
rs1060499944
|
0.00001
|
NM_001211.6(BUB1B):c.1451C>G (p.Ser484Cys)
|
rs777814938
|
0.00001
|
NM_001211.6(BUB1B):c.1464A>T (p.Lys488Asn)
|
rs368023159
|
0.00001
|
NM_001211.6(BUB1B):c.1513G>A (p.Ala505Thr)
|
rs1158168896
|
0.00001
|
NM_001211.6(BUB1B):c.1520A>G (p.Glu507Gly)
|
rs750377734
|
0.00001
|
NM_001211.6(BUB1B):c.1532C>T (p.Ala511Val)
|
rs758067530
|
0.00001
|
NM_001211.6(BUB1B):c.1628+5G>A
|
rs368202270
|
0.00001
|
NM_001211.6(BUB1B):c.1642C>T (p.Pro548Ser)
|
rs759527622
|
0.00001
|
NM_001211.6(BUB1B):c.1717G>C (p.Val573Leu)
|
rs1390700281
|
0.00001
|
NM_001211.6(BUB1B):c.178C>T (p.Arg60Trp)
|
rs748915007
|
0.00001
|
NM_001211.6(BUB1B):c.1825T>G (p.Cys609Gly)
|
rs1217885669
|
0.00001
|
NM_001211.6(BUB1B):c.1826G>T (p.Cys609Phe)
|
rs1260445282
|
0.00001
|
NM_001211.6(BUB1B):c.1919C>T (p.Pro640Leu)
|
rs370388424
|
0.00001
|
NM_001211.6(BUB1B):c.1922A>T (p.Glu641Val)
|
rs527987333
|
0.00001
|
NM_001211.6(BUB1B):c.1936G>A (p.Val646Ile)
|
rs1349171668
|
0.00001
|
NM_001211.6(BUB1B):c.1979A>G (p.Tyr660Cys)
|
rs756309201
|
0.00001
|
NM_001211.6(BUB1B):c.1993A>C (p.Ser665Arg)
|
rs776731111
|
0.00001
|
NM_001211.6(BUB1B):c.200G>A (p.Arg67Gln)
|
rs781034323
|
0.00001
|
NM_001211.6(BUB1B):c.2097A>C (p.Lys699Asn)
|
rs752678855
|
0.00001
|
NM_001211.6(BUB1B):c.212G>A (p.Gly71Glu)
|
rs777922307
|
0.00001
|
NM_001211.6(BUB1B):c.2132A>G (p.Asn711Ser)
|
rs1416579359
|
0.00001
|
NM_001211.6(BUB1B):c.2143+5G>A
|
rs543227658
|
0.00001
|
NM_001211.6(BUB1B):c.2144-7C>G
|
rs1409374402
|
0.00001
|
NM_001211.6(BUB1B):c.2233A>G (p.Ile745Val)
|
rs763676435
|
0.00001
|
NM_001211.6(BUB1B):c.2271G>T (p.Lys757Asn)
|
rs1007572176
|
0.00001
|
NM_001211.6(BUB1B):c.229G>A (p.Val77Ile)
|
rs774353130
|
0.00001
|
NM_001211.6(BUB1B):c.2309G>A (p.Arg770Gln)
|
rs1422532977
|
0.00001
|
NM_001211.6(BUB1B):c.2323T>G (p.Cys775Gly)
|
rs1025942169
|
0.00001
|
NM_001211.6(BUB1B):c.2341T>C (p.Phe781Leu)
|
rs368996088
|
0.00001
|
NM_001211.6(BUB1B):c.234G>T (p.Trp78Cys)
|
rs760085736
|
0.00001
|
NM_001211.6(BUB1B):c.2397A>G (p.Gln799=)
|
rs754363122
|
0.00001
|
NM_001211.6(BUB1B):c.2398C>T (p.Pro800Ser)
|
rs139226455
|
0.00001
|
NM_001211.6(BUB1B):c.2404C>T (p.Pro802Ser)
|
rs1341275919
|
0.00001
|
NM_001211.6(BUB1B):c.240G>A (p.Arg80=)
|
rs772218663
|
0.00001
|
NM_001211.6(BUB1B):c.242A>G (p.Tyr81Cys)
|
rs1212671249
|
0.00001
|
NM_001211.6(BUB1B):c.2506C>T (p.His836Tyr)
|
rs546607638
|
0.00001
|
NM_001211.6(BUB1B):c.2508C>G (p.His836Gln)
|
rs181352808
|
0.00001
|
NM_001211.6(BUB1B):c.2557T>C (p.Tyr853His)
|
rs1264165576
|
0.00001
|
NM_001211.6(BUB1B):c.2560A>G (p.Ile854Val)
|
rs375105548
|
0.00001
|
NM_001211.6(BUB1B):c.2572A>G (p.Ile858Val)
|
rs867416581
|
0.00001
|
NM_001211.6(BUB1B):c.2608G>A (p.Val870Met)
|
rs1360702866
|
0.00001
|
NM_001211.6(BUB1B):c.2693A>G (p.Tyr898Cys)
|
rs757927200
|
0.00001
|
NM_001211.6(BUB1B):c.2752C>G (p.Leu918Val)
|
rs145639700
|
0.00001
|
NM_001211.6(BUB1B):c.2783G>C (p.Ser928Thr)
|
rs950826338
|
0.00001
|
NM_001211.6(BUB1B):c.2792G>A (p.Arg931Gln)
|
rs751509832
|
0.00001
|
NM_001211.6(BUB1B):c.2801A>G (p.Gln934Arg)
|
rs781299320
|
0.00001
|
NM_001211.6(BUB1B):c.2933G>T (p.Trp978Leu)
|
rs1191638586
|
0.00001
|
NM_001211.6(BUB1B):c.2979G>T (p.Trp993Cys)
|
rs1060499945
|
0.00001
|
NM_001211.6(BUB1B):c.3022A>G (p.Thr1008Ala)
|
rs750610809
|
0.00001
|
NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro)
|
rs28989185
|
0.00001
|
NM_001211.6(BUB1B):c.3049G>A (p.Ala1017Thr)
|
rs748723428
|
0.00001
|
NM_001211.6(BUB1B):c.3076A>G (p.Thr1026Ala)
|
rs771709698
|
0.00001
|
NM_001211.6(BUB1B):c.3146T>C (p.Phe1049Ser)
|
rs751744682
|
0.00001
|
NM_001211.6(BUB1B):c.322G>A (p.Ala108Thr)
|
rs373830262
|
0.00001
|
NM_001211.6(BUB1B):c.343T>C (p.Tyr115His)
|
rs748512524
|
0.00001
|
NM_001211.6(BUB1B):c.359G>A (p.Arg120Gln)
|
rs1349349252
|
0.00001
|
NM_001211.6(BUB1B):c.368A>G (p.Asn123Ser)
|
rs759232092
|
0.00001
|
NM_001211.6(BUB1B):c.430A>G (p.Asn144Asp)
|
rs2037225429
|
0.00001
|
NM_001211.6(BUB1B):c.580C>T (p.Arg194Ter)
|
rs28989186
|
0.00001
|
NM_001211.6(BUB1B):c.585A>G (p.Gln195=)
|
rs1595518738
|
0.00001
|
NM_001211.6(BUB1B):c.596G>A (p.Arg199Gln)
|
rs779260067
|
0.00001
|
NM_001211.6(BUB1B):c.604C>T (p.Arg202Trp)
|
rs746647687
|
0.00001
|
NM_001211.6(BUB1B):c.605G>A (p.Arg202Gln)
|
rs768417752
|
0.00001
|
NM_001211.6(BUB1B):c.655T>C (p.Ser219Pro)
|
rs893191577
|
0.00001
|
NM_001211.6(BUB1B):c.671G>A (p.Arg224Gln)
|
rs760391628
|
0.00001
|
NM_001211.6(BUB1B):c.676A>C (p.Thr226Pro)
|
rs587778146
|
0.00001
|
NM_001211.6(BUB1B):c.767G>T (p.Arg256Ile)
|
rs531786139
|
0.00001
|
NM_001211.6(BUB1B):c.806A>G (p.Asn269Ser)
|
rs1429987495
|
0.00001
|
NM_001211.6(BUB1B):c.827A>G (p.Asp276Gly)
|
rs768901850
|
0.00001
|
NM_001211.6(BUB1B):c.833A>G (p.Asn278Ser)
|
rs776666761
|
0.00001
|
NM_001211.6(BUB1B):c.843G>C (p.Glu281Asp)
|
rs1411409004
|
0.00001
|
NM_001211.6(BUB1B):c.895C>G (p.Pro299Ala)
|
rs1263513288
|
0.00001
|
NM_001211.6(BUB1B):c.944C>T (p.Thr315Ile)
|
rs1369363382
|
0.00001
|
NM_001211.6(BUB1B):c.974G>A (p.Gly325Asp)
|
rs749377720
|
0.00001
|
NM_001211.6(BUB1B):c.977A>G (p.Asn326Ser)
|
rs774654439
|
0.00001
|
NM_001256447.2(BCAP31):c.716G>A (p.Gly239Asp)
|
rs1557047235
|
0.00001
|
NM_001330078.2(NRXN1):c.1546C>A (p.Leu516Ile)
|
rs781442387
|
0.00001
|
NM_001330078.2(NRXN1):c.1784G>A (p.Arg595His)
|
rs761279630
|
0.00001
|
NM_001330078.2(NRXN1):c.262C>G (p.Arg88Gly)
|
rs748684256
|
0.00001
|
NM_001330078.2(NRXN1):c.3375A>G (p.Thr1125=)
|
rs757748286
|
0.00001
|
NM_001368894.2(PAX6):c.*207G>A
|
rs886048199
|
0.00001
|
NM_001368894.2(PAX6):c.*226T>C
|
rs753595935
|
0.00001
|
NM_001368894.2(PAX6):c.-59G>T
|
rs886048204
|
0.00001
|
NM_001372044.2(SHANK3):c.1144G>T (p.Ala382Ser)
|
rs1234645097
|
0.00001
|
NM_001372044.2(SHANK3):c.1312G>A (p.Gly438Ser)
|
rs368073391
|
0.00001
|
NM_001372044.2(SHANK3):c.3852C>T (p.Leu1284=)
|
rs753765611
|
0.00001
|
NM_001372044.2(SHANK3):c.4600G>A (p.Gly1534Arg)
|
rs1440735830
|
0.00001
|
NM_001378120.1(MBD5):c.1012C>T (p.Pro338Ser)
|
rs755505551
|
0.00001
|
NM_001378120.1(MBD5):c.103C>A (p.Leu35Ile)
|
rs1201462027
|
0.00001
|
NM_001378120.1(MBD5):c.1153G>T (p.Val385Phe)
|
rs1230879827
|
0.00001
|
NM_001378120.1(MBD5):c.1259G>A (p.Gly420Glu)
|
rs142661175
|
0.00001
|
NM_001378120.1(MBD5):c.1372C>A (p.Gln458Lys)
|
rs990365646
|
0.00001
|
NM_001378120.1(MBD5):c.1406A>G (p.His469Arg)
|
rs766571687
|
0.00001
|
NM_001378120.1(MBD5):c.1420A>G (p.Met474Val)
|
rs577567411
|
0.00001
|
NM_001378120.1(MBD5):c.1537G>A (p.Asp513Asn)
|
rs1465733702
|
0.00001
|
NM_001378120.1(MBD5):c.1639G>A (p.Gly547Arg)
|
rs116235310
|
0.00001
|
NM_001378120.1(MBD5):c.1663C>A (p.Pro555Thr)
|
rs1422887607
|
0.00001
|
NM_001378120.1(MBD5):c.1709A>G (p.Asn570Ser)
|
rs1277304345
|
0.00001
|
NM_001378120.1(MBD5):c.1828G>A (p.Gly610Ser)
|
rs142495834
|
0.00001
|
NM_001378120.1(MBD5):c.1850A>G (p.His617Arg)
|
rs1370214658
|
0.00001
|
NM_001378120.1(MBD5):c.1909G>T (p.Gly637Trp)
|
rs750882049
|
0.00001
|
NM_001378120.1(MBD5):c.1935A>C (p.Arg645Ser)
|
rs775494046
|
0.00001
|
NM_001378120.1(MBD5):c.1955A>G (p.Gln652Arg)
|
rs398124342
|
0.00001
|
NM_001378120.1(MBD5):c.1969C>T (p.Arg657Trp)
|
rs112334672
|
0.00001
|
NM_001378120.1(MBD5):c.1990A>G (p.Thr664Ala)
|
rs142431261
|
0.00001
|
NM_001378120.1(MBD5):c.19T>A (p.Cys7Ser)
|
rs766104877
|
0.00001
|
NM_001378120.1(MBD5):c.2011A>G (p.Arg671Gly)
|
rs1376331579
|
0.00001
|
NM_001378120.1(MBD5):c.205A>G (p.Ile69Val)
|
rs749163361
|
0.00001
|
NM_001378120.1(MBD5):c.2074G>A (p.Gly692Ser)
|
rs983507514
|
0.00001
|
NM_001378120.1(MBD5):c.2081G>T (p.Gly694Val)
|
rs1417817158
|
0.00001
|
NM_001378120.1(MBD5):c.2140C>G (p.His714Asp)
|
rs886054909
|
0.00001
|
NM_001378120.1(MBD5):c.2173G>T (p.Ala725Ser)
|
rs747127657
|
0.00001
|
NM_001378120.1(MBD5):c.2213A>G (p.His738Arg)
|
rs528789050
|
0.00001
|
NM_001378120.1(MBD5):c.2227A>C (p.Ser743Arg)
|
rs1442226073
|
0.00001
|
NM_001378120.1(MBD5):c.2240G>C (p.Ser747Thr)
|
rs1031639264
|
0.00001
|
NM_001378120.1(MBD5):c.2272G>A (p.Ala758Thr)
|
rs921434746
|
0.00001
|
NM_001378120.1(MBD5):c.2288A>G (p.Asn763Ser)
|
rs1294270968
|
0.00001
|
NM_001378120.1(MBD5):c.2308C>T (p.His770Tyr)
|
rs778118780
|
0.00001
|
NM_001378120.1(MBD5):c.2311A>G (p.Ser771Gly)
|
rs777686665
|
0.00001
|
NM_001378120.1(MBD5):c.2330A>G (p.Asn777Ser)
|
rs768601611
|
0.00001
|
NM_001378120.1(MBD5):c.2331C>A (p.Asn777Lys)
|
rs865860163
|
0.00001
|
NM_001378120.1(MBD5):c.2381G>A (p.Gly794Glu)
|
rs369612300
|
0.00001
|
NM_001378120.1(MBD5):c.2384T>A (p.Met795Lys)
|
rs1446479503
|
0.00001
|
NM_001378120.1(MBD5):c.2402T>C (p.Met801Thr)
|
rs756231796
|
0.00001
|
NM_001378120.1(MBD5):c.2452A>G (p.Thr818Ala)
|
rs139911474
|
0.00001
|
NM_001378120.1(MBD5):c.2471T>C (p.Ile824Thr)
|
rs1286239142
|
0.00001
|
NM_001378120.1(MBD5):c.2514A>C (p.Glu838Asp)
|
rs1216163190
|
0.00001
|
NM_001378120.1(MBD5):c.2522G>A (p.Gly841Asp)
|
rs756065878
|
0.00001
|
NM_001378120.1(MBD5):c.2558C>T (p.Thr853Ile)
|
rs780490918
|
0.00001
|
NM_001378120.1(MBD5):c.2688C>T (p.His896=)
|
rs1681222021
|
0.00001
|
NM_001378120.1(MBD5):c.2740T>G (p.Leu914Val)
|
rs1346667597
|
0.00001
|
NM_001378120.1(MBD5):c.2750G>A (p.Ser917Asn)
|
rs748689212
|
0.00001
|
NM_001378120.1(MBD5):c.2795A>G (p.His932Arg)
|
rs140228960
|
0.00001
|
NM_001378120.1(MBD5):c.2828A>G (p.Gln943Arg)
|
rs377062993
|
0.00001
|
NM_001378120.1(MBD5):c.3673C>A (p.Leu1225Ile)
|
rs776251206
|
0.00001
|
NM_001378120.1(MBD5):c.3695C>A (p.Ser1232Tyr)
|
rs1681324168
|
0.00001
|
NM_001378120.1(MBD5):c.3758G>A (p.Arg1253Lys)
|
rs758196921
|
0.00001
|
NM_001378120.1(MBD5):c.3791G>T (p.Arg1264Ile)
|
rs1553520435
|
0.00001
|
NM_001378120.1(MBD5):c.4054G>T (p.Ala1352Ser)
|
rs373177231
|
0.00001
|
NM_001378120.1(MBD5):c.4066A>G (p.Met1356Val)
|
rs1057518375
|
0.00001
|
NM_001378120.1(MBD5):c.4112G>A (p.Ser1371Asn)
|
rs1037868450
|
0.00001
|
NM_001378120.1(MBD5):c.4124C>T (p.Ala1375Val)
|
rs767306594
|
0.00001
|
NM_001378120.1(MBD5):c.4133A>G (p.His1378Arg)
|
rs760629404
|
0.00001
|
NM_001378120.1(MBD5):c.4168A>G (p.Arg1390Gly)
|
rs773278945
|
0.00001
|
NM_001378120.1(MBD5):c.4170G>T (p.Arg1390Ser)
|
rs1312513915
|
0.00001
|
NM_001378120.1(MBD5):c.4284A>T (p.Lys1428Asn)
|
rs749348330
|
0.00001
|
NM_001378120.1(MBD5):c.428C>T (p.Ala143Val)
|
rs750151785
|
0.00001
|
NM_001378120.1(MBD5):c.437G>T (p.Arg146Ile)
|
rs1411318062
|
0.00001
|
NM_001378120.1(MBD5):c.4417C>G (p.Leu1473Val)
|
rs1400713495
|
0.00001
|
NM_001378120.1(MBD5):c.4447C>A (p.Pro1483Thr)
|
rs142913108
|
0.00001
|
NM_001378120.1(MBD5):c.4594C>T (p.Arg1532Trp)
|
rs370659853
|
0.00001
|
NM_001378120.1(MBD5):c.4597G>A (p.Gly1533Arg)
|
rs747948310
|
0.00001
|
NM_001378120.1(MBD5):c.4601T>C (p.Phe1534Ser)
|
rs755983540
|
0.00001
|
NM_001378120.1(MBD5):c.4648C>A (p.Gln1550Lys)
|
rs764472472
|
0.00001
|
NM_001378120.1(MBD5):c.4730G>A (p.Ser1577Asn)
|
rs755214586
|
0.00001
|
NM_001378120.1(MBD5):c.4820A>T (p.Glu1607Val)
|
rs1470442862
|
0.00001
|
NM_001378120.1(MBD5):c.4838C>A (p.Pro1613Gln)
|
rs763299719
|
0.00001
|
NM_001378120.1(MBD5):c.4915G>A (p.Glu1639Lys)
|
rs1395912880
|
0.00001
|
NM_001378120.1(MBD5):c.4921G>A (p.Asp1641Asn)
|
rs780805788
|
0.00001
|
NM_001378120.1(MBD5):c.4924G>A (p.Val1642Ile)
|
rs770196931
|
0.00001
|
NM_001378120.1(MBD5):c.4963G>A (p.Val1655Met)
|
rs957554797
|
0.00001
|
NM_001378120.1(MBD5):c.5021G>A (p.Arg1674Gln)
|
rs750291645
|
0.00001
|
NM_001378120.1(MBD5):c.5036+6C>T
|
rs372049573
|
0.00001
|
NM_001378120.1(MBD5):c.5147G>A (p.Arg1716Lys)
|
rs534850589
|
0.00001
|
NM_001378120.1(MBD5):c.5179A>G (p.Arg1727Gly)
|
rs1243468520
|
0.00001
|
NM_001378120.1(MBD5):c.57A>G (p.Ile19Met)
|
rs757256547
|
0.00001
|
NM_001378120.1(MBD5):c.643C>T (p.Arg215Cys)
|
rs777516937
|
0.00001
|
NM_001378120.1(MBD5):c.677C>T (p.Ser226Leu)
|
rs1680672960
|
0.00001
|
NM_001378120.1(MBD5):c.742G>C (p.Asp248His)
|
rs753529014
|
0.00001
|
NM_001378120.1(MBD5):c.801C>G (p.His267Gln)
|
rs747135508
|
0.00001
|
NM_001378120.1(MBD5):c.817C>T (p.Leu273Phe)
|
rs776894242
|
0.00001
|
NM_001378120.1(MBD5):c.83G>A (p.Arg28His)
|
rs201699340
|
0.00001
|
NM_001378120.1(MBD5):c.860C>T (p.Ser287Leu)
|
rs1411303556
|
0.00001
|
NM_001378120.1(MBD5):c.932A>C (p.Lys311Thr)
|
rs200561241
|
0.00001
|
NM_001378120.1(MBD5):c.962T>C (p.Met321Thr)
|
rs140978568
|
0.00001
|
NM_001378120.1(MBD5):c.964G>C (p.Glu322Gln)
|
rs760694122
|
0.00001
|
NM_001379200.1(TBX1):c.1003G>T (p.Ala335Ser)
|
rs892172437
|
0.00001
|
NM_001379200.1(TBX1):c.1010C>T (p.Pro337Leu)
|
rs1300317275
|
0.00001
|
NM_001379200.1(TBX1):c.1025G>A (p.Gly342Asp)
|
rs1191464098
|
0.00001
|
NM_001379200.1(TBX1):c.1069G>T (p.Asp357Tyr)
|
rs1407996016
|
0.00001
|
NM_001379200.1(TBX1):c.1103C>A (p.Ala368Glu)
|
rs1157536437
|
0.00001
|
NM_001379200.1(TBX1):c.1195G>A (p.Gly399Arg)
|
rs1196576937
|
0.00001
|
NM_001379200.1(TBX1):c.1196G>C (p.Gly399Ala)
|
rs1274082696
|
0.00001
|
NM_001379200.1(TBX1):c.1199G>C (p.Gly400Ala)
|
rs1238160485
|
0.00001
|
NM_001379200.1(TBX1):c.119C>T (p.Ala40Val)
|
rs745369694
|
0.00001
|
NM_001379200.1(TBX1):c.1286C>T (p.Ala429Val)
|
rs754328637
|
0.00001
|
NM_001379200.1(TBX1):c.1295A>G (p.Tyr432Cys)
|
rs1163307521
|
0.00001
|
NM_001379200.1(TBX1):c.1297G>A (p.Asp433Asn)
|
rs758517884
|
0.00001
|
NM_001379200.1(TBX1):c.1304A>G (p.Tyr435Cys)
|
rs1386894564
|
0.00001
|
NM_001379200.1(TBX1):c.137C>T (p.Pro46Leu)
|
rs1169037254
|
0.00001
|
NM_001379200.1(TBX1):c.1469C>T (p.Ser490Leu)
|
rs770129913
|
0.00001
|
NM_001379200.1(TBX1):c.1472C>T (p.Ala491Val)
|
rs373987708
|
0.00001
|
NM_001379200.1(TBX1):c.1500C>G (p.Asp500Glu)
|
rs777213879
|
0.00001
|
NM_001379200.1(TBX1):c.158C>T (p.Pro53Leu)
|
rs1403071771
|
0.00001
|
NM_001379200.1(TBX1):c.200C>T (p.Pro67Leu)
|
rs1936641756
|
0.00001
|
NM_001379200.1(TBX1):c.226C>A (p.Pro76Thr)
|
rs1936643083
|
0.00001
|
NM_001379200.1(TBX1):c.303C>G (p.Ser101Arg)
|
rs774556411
|
0.00001
|
NM_001379200.1(TBX1):c.407G>A (p.Gly136Asp)
|
rs761127806
|
0.00001
|
NM_001379200.1(TBX1):c.480T>A (p.Asp160Glu)
|
rs778041960
|
0.00001
|
NM_001379200.1(TBX1):c.523G>A (p.Asp175Asn)
|
rs371125236
|
0.00001
|
NM_001379200.1(TBX1):c.632A>G (p.Lys211Arg)
|
rs755518264
|
0.00001
|
NM_001379200.1(TBX1):c.637G>A (p.Ala213Thr)
|
rs748232668
|
0.00001
|
NM_001379200.1(TBX1):c.658G>A (p.Val220Met)
|
rs749275495
|
0.00001
|
NM_001379200.1(TBX1):c.700G>A (p.Asp234Asn)
|
rs765827737
|
0.00001
|
NM_001379200.1(TBX1):c.740A>G (p.Gln247Arg)
|
rs373539086
|
0.00001
|
NM_001379200.1(TBX1):c.956G>C (p.Gly319Ala)
|
rs747565599
|
0.00001
|
NM_001379200.1(TBX1):c.986G>C (p.Arg329Pro)
|
rs1271930172
|
0.00001
|
NM_002397.5(MEF2C):c.1015G>A (p.Ala339Thr)
|
rs778783316
|
0.00001
|
NM_002397.5(MEF2C):c.1340T>C (p.Ile447Thr)
|
rs753156153
|
0.00001
|
NM_002397.5(MEF2C):c.319G>A (p.Val107Ile)
|
rs750647048
|
0.00001
|
NM_002397.5(MEF2C):c.440T>G (p.Ile147Ser)
|
rs1366038563
|
0.00001
|
NM_002397.5(MEF2C):c.544A>G (p.Met182Val)
|
rs1250885583
|
0.00001
|
NM_002397.5(MEF2C):c.585C>T (p.Asn195=)
|
rs398123686
|
0.00001
|
NM_002397.5(MEF2C):c.860C>T (p.Ser287Leu)
|
rs777826971
|
0.00001
|
NM_004667.6(HERC2):c.5351G>A (p.Arg1784His)
|
rs1377524842
|
0.00001
|
NM_004667.6(HERC2):c.8598C>G (p.Ile2866Met)
|
rs1009967374
|
0.00001
|
NM_005068.3(SIM1):c.*1484T>C
|
rs886060891
|
0.00001
|
NM_005068.3(SIM1):c.743+10C>G
|
rs886060897
|
0.00001
|
NM_005267.5(GJA8):c.1033G>A (p.Glu345Lys)
|
rs1553242966
|
0.00001
|
NM_005573.4(LMNB1):c.*640G>A
|
rs1294635743
|
0.00001
|
NM_005573.4(LMNB1):c.411A>T (p.Glu137Asp)
|
rs1205547665
|
0.00001
|
NM_005573.4(LMNB1):c.775C>T (p.Leu259=)
|
rs575662572
|
0.00001
|
NM_006940.6(SOX5):c.1129G>A (p.Asp377Asn)
|
rs371364235
|
0.00001
|
NM_006940.6(SOX5):c.1226C>A (p.Pro409His)
|
rs1565958110
|
0.00001
|
NM_006940.6(SOX5):c.179A>G (p.Asn60Ser)
|
rs764767423
|
0.00001
|
NM_014679.5(CEP57):c.1009T>C (p.Ser337Pro)
|
rs1453457813
|
0.00001
|
NM_014679.5(CEP57):c.1031A>G (p.Lys344Arg)
|
rs185181743
|
0.00001
|
NM_014679.5(CEP57):c.1046C>T (p.Thr349Ile)
|
rs768090594
|
0.00001
|
NM_014679.5(CEP57):c.1051C>A (p.Pro351Thr)
|
rs1227528568
|
0.00001
|
NM_014679.5(CEP57):c.1063G>T (p.Gly355Cys)
|
rs202115720
|
0.00001
|
NM_014679.5(CEP57):c.1084G>A (p.Glu362Lys)
|
rs749400630
|
0.00001
|
NM_014679.5(CEP57):c.1122G>T (p.Met374Ile)
|
rs764662402
|
0.00001
|
NM_014679.5(CEP57):c.1160A>C (p.Glu387Ala)
|
rs749225516
|
0.00001
|
NM_014679.5(CEP57):c.1172T>C (p.Val391Ala)
|
rs374317740
|
0.00001
|
NM_014679.5(CEP57):c.1174G>A (p.Glu392Lys)
|
rs747350287
|
0.00001
|
NM_014679.5(CEP57):c.1196G>A (p.Cys399Tyr)
|
rs1862891504
|
0.00001
|
NM_014679.5(CEP57):c.1207G>A (p.Ala403Thr)
|
rs752448256
|
0.00001
|
NM_014679.5(CEP57):c.122C>T (p.Ser41Leu)
|
rs993520814
|
0.00001
|
NM_014679.5(CEP57):c.1247C>G (p.Thr416Ser)
|
rs758520624
|
0.00001
|
NM_014679.5(CEP57):c.1272+4A>C
|
rs1465357317
|
0.00001
|
NM_014679.5(CEP57):c.1273C>T (p.Leu425=)
|
rs758465541
|
0.00001
|
NM_014679.5(CEP57):c.145G>A (p.Asp49Asn)
|
rs368437597
|
0.00001
|
NM_014679.5(CEP57):c.1496A>G (p.Asp499Gly)
|
rs778341440
|
0.00001
|
NM_014679.5(CEP57):c.152G>A (p.Arg51Gln)
|
rs549840259
|
0.00001
|
NM_014679.5(CEP57):c.154C>T (p.Arg52Cys)
|
rs749519225
|
0.00001
|
NM_014679.5(CEP57):c.155G>A (p.Arg52His)
|
rs771323616
|
0.00001
|
NM_014679.5(CEP57):c.170C>G (p.Pro57Arg)
|
rs1861478889
|
0.00001
|
NM_014679.5(CEP57):c.233A>G (p.Asp78Gly)
|
rs750728317
|
0.00001
|
NM_014679.5(CEP57):c.242G>A (p.Arg81Gln)
|
rs1221295374
|
0.00001
|
NM_014679.5(CEP57):c.244C>T (p.Arg82Cys)
|
rs372530656
|
0.00001
|
NM_014679.5(CEP57):c.258G>C (p.Glu86Asp)
|
rs912374722
|
0.00001
|
NM_014679.5(CEP57):c.26C>T (p.Ala9Val)
|
rs1171650821
|
0.00001
|
NM_014679.5(CEP57):c.31G>C (p.Gly11Arg)
|
rs755854165
|
0.00001
|
NM_014679.5(CEP57):c.337C>G (p.Gln113Glu)
|
rs1361128223
|
0.00001
|
NM_014679.5(CEP57):c.358A>G (p.Asn120Asp)
|
rs201590491
|
0.00001
|
NM_014679.5(CEP57):c.366A>C (p.Glu122Asp)
|
rs375567801
|
0.00001
|
NM_014679.5(CEP57):c.373C>T (p.His125Tyr)
|
rs751973626
|
0.00001
|
NM_014679.5(CEP57):c.382+4T>C
|
rs572758334
|
0.00001
|
NM_014679.5(CEP57):c.3G>A (p.Met1Ile)
|
rs1017500720
|
0.00001
|
NM_014679.5(CEP57):c.45+5G>A
|
rs1347618392
|
0.00001
|
NM_014679.5(CEP57):c.472G>A (p.Glu158Lys)
|
rs761049103
|
0.00001
|
NM_014679.5(CEP57):c.478G>A (p.Glu160Lys)
|
rs754392500
|
0.00001
|
NM_014679.5(CEP57):c.550A>G (p.Ser184Gly)
|
rs1336581104
|
0.00001
|
NM_014679.5(CEP57):c.566T>C (p.Leu189Ser)
|
rs928707774
|
0.00001
|
NM_014679.5(CEP57):c.824A>G (p.Tyr275Cys)
|
rs759400733
|
0.00001
|
NM_014679.5(CEP57):c.896C>G (p.Pro299Arg)
|
rs776778777
|
0.00001
|
NM_014679.5(CEP57):c.89G>A (p.Arg30Gln)
|
rs577173144
|
0.00001
|
NM_014679.5(CEP57):c.917A>G (p.Asn306Ser)
|
rs557536640
|
0.00001
|
NM_014679.5(CEP57):c.918T>A (p.Asn306Lys)
|
rs984460249
|
0.00001
|
NM_014679.5(CEP57):c.968A>G (p.Asn323Ser)
|
rs1266159669
|
0.00001
|
NM_014679.5(CEP57):c.98C>T (p.Ser33Leu)
|
rs562909477
|
0.00001
|
NM_016111.4(TELO2):c.2003G>A (p.Arg668Gln)
|
rs150934316
|
0.00001
|
NM_016628.5(WAC):c.31C>T (p.Leu11Phe)
|
rs139935489
|
0.00001
|
NM_019040.5(ELP4):c.*3859G>A
|
rs886048190
|
0.00001
|
NM_019040.5(ELP4):c.*4023C>A
|
rs886048194
|
0.00001
|
NM_019040.5(ELP4):c.*4889G>A
|
rs886048196
|
0.00001
|
NM_019040.5(ELP4):c.*5357A>G
|
rs886048197
|
0.00001
|
NM_019040.5(ELP4):c.*5471T>C
|
rs886048198
|
0.00001
|
NM_019066.5(MAGEL2):c.1145_1147dup (p.Trp382_Gln383insArg)
|
rs1397065690
|
0.00001
|
NM_019066.5(MAGEL2):c.1220C>T (p.Pro407Leu)
|
rs964772041
|
0.00001
|
NM_019066.5(MAGEL2):c.220G>A (p.Ala74Thr)
|
rs1216919340
|
0.00001
|
NM_019066.5(MAGEL2):c.2343G>T (p.Glu781Asp)
|
rs772413215
|
0.00001
|
NM_019066.5(MAGEL2):c.2363G>T (p.Ser788Ile)
|
rs984557516
|
0.00001
|
NM_022039.4(FBXW4):c.1181A>G (p.His394Arg)
|
rs151048089
|
0.00001
|
NM_022039.4(FBXW4):c.710G>A (p.Arg237Gln)
|
rs886046642
|
0.00001
|
NM_022455.5(NSD1):c.1063+10dup
|
rs762416925
|
0.00001
|
NM_022455.5(NSD1):c.1085G>A (p.Arg362Gln)
|
rs769733603
|
0.00001
|
NM_022455.5(NSD1):c.108A>G (p.Gln36=)
|
rs549091873
|
0.00001
|
NM_022455.5(NSD1):c.1237-10T>C
|
rs587784070
|
0.00001
|
NM_022455.5(NSD1):c.1471G>A (p.Glu491Lys)
|
rs587784074
|
0.00001
|
NM_022455.5(NSD1):c.1573C>T (p.Arg525Trp)
|
rs1215568879
|
0.00001
|
NM_022455.5(NSD1):c.1579G>A (p.Gly527Arg)
|
rs1488271424
|
0.00001
|
NM_022455.5(NSD1):c.1646A>C (p.Asn549Thr)
|
rs756449994
|
0.00001
|
NM_022455.5(NSD1):c.1882G>A (p.Asp628Asn)
|
rs1763231304
|
0.00001
|
NM_022455.5(NSD1):c.1976A>G (p.Asp659Gly)
|
rs754514832
|
0.00001
|
NM_022455.5(NSD1):c.19C>A (p.Leu7Ile)
|
rs368345846
|
0.00001
|
NM_022455.5(NSD1):c.2079C>G (p.Asn693Lys)
|
rs766184697
|
0.00001
|
NM_022455.5(NSD1):c.2153G>A (p.Ser718Asn)
|
rs781142476
|
0.00001
|
NM_022455.5(NSD1):c.2363G>A (p.Arg788Gln)
|
rs751258086
|
0.00001
|
NM_022455.5(NSD1):c.2685T>G (p.Ser895Arg)
|
rs1442977122
|
0.00001
|
NM_022455.5(NSD1):c.2809C>T (p.Arg937Trp)
|
rs780991637
|
0.00001
|
NM_022455.5(NSD1):c.2925C>T (p.Ser975=)
|
rs587784090
|
0.00001
|
NM_022455.5(NSD1):c.3352G>A (p.Asp1118Asn)
|
rs1348023231
|
0.00001
|
NM_022455.5(NSD1):c.3404C>T (p.Pro1135Leu)
|
rs1021852466
|
0.00001
|
NM_022455.5(NSD1):c.3512G>A (p.Arg1171His)
|
rs111638717
|
0.00001
|
NM_022455.5(NSD1):c.3558C>G (p.Ala1186=)
|
rs398124377
|
0.00001
|
NM_022455.5(NSD1):c.3770C>T (p.Thr1257Ile)
|
rs1249385869
|
0.00001
|
NM_022455.5(NSD1):c.3959G>A (p.Arg1320Gln)
|
rs1388537733
|
0.00001
|
NM_022455.5(NSD1):c.4150C>T (p.Arg1384Trp)
|
rs1765619618
|
0.00001
|
NM_022455.5(NSD1):c.4380C>T (p.Gly1460=)
|
rs1251583221
|
0.00001
|
NM_022455.5(NSD1):c.4411C>G (p.Arg1471Gly)
|
rs570278338
|
0.00001
|
NM_022455.5(NSD1):c.4436C>T (p.Ala1479Val)
|
rs1766327804
|
0.00001
|
NM_022455.5(NSD1):c.4487C>T (p.Pro1496Leu)
|
rs1766333203
|
0.00001
|
NM_022455.5(NSD1):c.4966+15T>C
|
rs587784130
|
0.00001
|
NM_022455.5(NSD1):c.5204A>G (p.Asn1735Ser)
|
rs746925986
|
0.00001
|
NM_022455.5(NSD1):c.5420C>T (p.Thr1807Ile)
|
rs759106773
|
0.00001
|
NM_022455.5(NSD1):c.5843G>A (p.Arg1948His)
|
rs746726463
|
0.00001
|
NM_022455.5(NSD1):c.5892+6A>G
|
rs1231700818
|
0.00001
|
NM_022455.5(NSD1):c.6320G>A (p.Arg2107His)
|
rs1401142770
|
0.00001
|
NM_022455.5(NSD1):c.653G>T (p.Arg218Ile)
|
rs1240149522
|
0.00001
|
NM_022455.5(NSD1):c.6673C>G (p.Pro2225Ala)
|
rs1418961998
|
0.00001
|
NM_022455.5(NSD1):c.6680C>T (p.Pro2227Leu)
|
rs748597598
|
0.00001
|
NM_022455.5(NSD1):c.670T>C (p.Ser224Pro)
|
rs770174512
|
0.00001
|
NM_022455.5(NSD1):c.7076C>T (p.Pro2359Leu)
|
rs769699822
|
0.00001
|
NM_022455.5(NSD1):c.7331A>G (p.Gln2444Arg)
|
rs921266576
|
0.00001
|
NM_022455.5(NSD1):c.7379A>G (p.Asp2460Gly)
|
rs1406542990
|
0.00001
|
NM_022455.5(NSD1):c.7391G>A (p.Arg2464His)
|
rs587784216
|
0.00001
|
NM_022455.5(NSD1):c.7618T>C (p.Ser2540Pro)
|
rs750441093
|
0.00001
|
NM_022455.5(NSD1):c.7678T>C (p.Ser2560Pro)
|
rs1388409083
|
0.00001
|
NM_022455.5(NSD1):c.7739C>T (p.Ala2580Val)
|
rs755285941
|
0.00001
|
NM_022455.5(NSD1):c.7897C>T (p.Arg2633Trp)
|
rs758475990
|
0.00001
|
NM_024426.6(WT1):c.1013G>A (p.Ser338Asn)
|
rs748112905
|
0.00001
|
NM_024426.6(WT1):c.1016+4A>C
|
rs776489080
|
0.00001
|
NM_024426.6(WT1):c.1033G>A (p.Glu345Lys)
|
rs547783372
|
0.00001
|
NM_024426.6(WT1):c.1069G>C (p.Ala357Pro)
|
rs1362066206
|
0.00001
|
NM_024426.6(WT1):c.1094G>A (p.Gly365Asp)
|
rs769934402
|
0.00001
|
NM_024426.6(WT1):c.109G>A (p.Gly37Arg)
|
rs1397886023
|
0.00001
|
NM_024426.6(WT1):c.1100T>G (p.Phe367Cys)
|
rs150194429
|
0.00001
|
NM_024426.6(WT1):c.1104A>T (p.Arg368Ser)
|
rs544966826
|
0.00001
|
NM_024426.6(WT1):c.1113+5G>A
|
rs930795675
|
0.00001
|
NM_024426.6(WT1):c.1114-7C>A
|
rs1396821797
|
0.00001
|
NM_024426.6(WT1):c.1117G>A (p.Val373Met)
|
rs747377024
|
0.00001
|
NM_024426.6(WT1):c.112G>C (p.Val38Leu)
|
rs1229949294
|
0.00001
|
NM_024426.6(WT1):c.1135G>A (p.Val379Ile)
|
rs755936509
|
0.00001
|
NM_024426.6(WT1):c.1153C>T (p.Arg385Trp)
|
rs765218093
|
0.00001
|
NM_024426.6(WT1):c.116G>A (p.Arg39Gln)
|
rs1590411426
|
0.00001
|
NM_024426.6(WT1):c.1198T>C (p.Tyr400His)
|
rs746353651
|
0.00001
|
NM_024426.6(WT1):c.1202C>T (p.Pro401Leu)
|
rs1060501258
|
0.00001
|
NM_024426.6(WT1):c.1210A>C (p.Asn404His)
|
rs774976881
|
0.00001
|
NM_024426.6(WT1):c.1211A>C (p.Asn404Thr)
|
rs748864758
|
0.00001
|
NM_024426.6(WT1):c.122C>T (p.Pro41Leu)
|
rs773550149
|
0.00001
|
NM_024426.6(WT1):c.1253G>T (p.Arg418Met)
|
rs373176048
|
0.00001
|
NM_024426.6(WT1):c.133T>C (p.Trp45Arg)
|
rs1186470250
|
0.00001
|
NM_024426.6(WT1):c.1385A>T (p.Gln462Leu)
|
rs533043871
|
0.00001
|
NM_024426.6(WT1):c.1469G>A (p.Arg490Gln)
|
rs139893274
|
0.00001
|
NM_024426.6(WT1):c.1477A>G (p.Ser493Gly)
|
rs776256676
|
0.00001
|
NM_024426.6(WT1):c.1487A>G (p.Lys496Arg)
|
rs760370132
|
0.00001
|
NM_024426.6(WT1):c.149C>A (p.Ala50Asp)
|
rs967658170
|
0.00001
|
NM_024426.6(WT1):c.1513G>C (p.Val505Leu)
|
rs1399910889
|
0.00001
|
NM_024426.6(WT1):c.154G>A (p.Glu52Lys)
|
rs1212035248
|
0.00001
|
NM_024426.6(WT1):c.1555C>T (p.Gln519Ter)
|
rs866837692
|
0.00001
|
NM_024426.6(WT1):c.1559T>C (p.Leu520Pro)
|
rs774228907
|
0.00001
|
NM_024426.6(WT1):c.1562C>T (p.Ala521Val)
|
rs749266841
|
0.00001
|
NM_024426.6(WT1):c.172C>G (p.Leu58Val)
|
rs1412425868
|
0.00001
|
NM_024426.6(WT1):c.200C>G (p.Ser67Cys)
|
rs1327516147
|
0.00001
|
NM_024426.6(WT1):c.202G>A (p.Gly68Arg)
|
rs1353446740
|
0.00001
|
NM_024426.6(WT1):c.211C>A (p.Pro71Thr)
|
rs1392405207
|
0.00001
|
NM_024426.6(WT1):c.223G>A (p.Gly75Ser)
|
rs528076586
|
0.00001
|
NM_024426.6(WT1):c.231C>A (p.Asp77Glu)
|
rs1193574882
|
0.00001
|
NM_024426.6(WT1):c.262G>A (p.Val88Ile)
|
rs1410971862
|
0.00001
|
NM_024426.6(WT1):c.26C>T (p.Pro9Leu)
|
rs948132360
|
0.00001
|
NM_024426.6(WT1):c.284G>T (p.Gly95Val)
|
rs1454795891
|
0.00001
|
NM_024426.6(WT1):c.286G>A (p.Gly96Ser)
|
rs1060501254
|
0.00001
|
NM_024426.6(WT1):c.304A>G (p.Ser102Gly)
|
rs1336319420
|
0.00001
|
NM_024426.6(WT1):c.311C>G (p.Ala104Gly)
|
rs1044394214
|
0.00001
|
NM_024426.6(WT1):c.326C>G (p.Pro109Arg)
|
rs1853459569
|
0.00001
|
NM_024426.6(WT1):c.32C>G (p.Ser11Cys)
|
rs1412950681
|
0.00001
|
NM_024426.6(WT1):c.341C>A (p.Ala114Glu)
|
rs1311557029
|
0.00001
|
NM_024426.6(WT1):c.34A>C (p.Thr12Pro)
|
rs764111950
|
0.00001
|
NM_024426.6(WT1):c.350G>A (p.Gly117Asp)
|
rs939385459
|
0.00001
|
NM_024426.6(WT1):c.352G>C (p.Ala118Pro)
|
rs1253163678
|
0.00001
|
NM_024426.6(WT1):c.355T>C (p.Ser119Pro)
|
rs1187111469
|
0.00001
|
NM_024426.6(WT1):c.380C>G (p.Pro127Arg)
|
rs1387576357
|
0.00001
|
NM_024426.6(WT1):c.386C>A (p.Pro129Gln)
|
rs745435848
|
0.00001
|
NM_024426.6(WT1):c.392C>G (p.Pro131Arg)
|
rs1443423967
|
0.00001
|
NM_024426.6(WT1):c.404C>T (p.Pro135Leu)
|
rs769642496
|
0.00001
|
NM_024426.6(WT1):c.412C>T (p.Pro138Ser)
|
rs544477985
|
0.00001
|
NM_024426.6(WT1):c.439C>G (p.Gln147Glu)
|
rs953087575
|
0.00001
|
NM_024426.6(WT1):c.440A>G (p.Gln147Arg)
|
rs764552529
|
0.00001
|
NM_024426.6(WT1):c.459C>T (p.Gly153=)
|
rs1309250331
|
0.00001
|
NM_024426.6(WT1):c.489C>A (p.Ser163Arg)
|
rs908414065
|
0.00001
|
NM_024426.6(WT1):c.499G>A (p.Val167Ile)
|
rs1474496518
|
0.00001
|
NM_024426.6(WT1):c.53C>T (p.Ala18Val)
|
rs1853481284
|
0.00001
|
NM_024426.6(WT1):c.566C>T (p.Pro189Leu)
|
rs745879965
|
0.00001
|
NM_024426.6(WT1):c.584C>G (p.Ser195Cys)
|
rs778194188
|
0.00001
|
NM_024426.6(WT1):c.595A>G (p.Arg199Gly)
|
rs1307678573
|
0.00001
|
NM_024426.6(WT1):c.620T>G (p.Leu207Arg)
|
rs1258754686
|
0.00001
|
NM_024426.6(WT1):c.627C>G (p.Ser209Arg)
|
rs761530541
|
0.00001
|
NM_024426.6(WT1):c.641A>C (p.Gln214Pro)
|
rs771024882
|
0.00001
|
NM_024426.6(WT1):c.646G>A (p.Ala216Thr)
|
rs778069787
|
0.00001
|
NM_024426.6(WT1):c.650T>G (p.Ile217Ser)
|
rs1853431800
|
0.00001
|
NM_024426.6(WT1):c.658C>A (p.Gln220Lys)
|
rs373935628
|
0.00001
|
NM_024426.6(WT1):c.662G>A (p.Gly221Asp)
|
rs369444006
|
0.00001
|
NM_024426.6(WT1):c.685G>A (p.Gly229Arg)
|
rs767419243
|
0.00001
|
NM_024426.6(WT1):c.691C>T (p.Pro231Ser)
|
rs766425764
|
0.00001
|
NM_024426.6(WT1):c.710C>T (p.Pro237Leu)
|
rs760776653
|
0.00001
|
NM_024426.6(WT1):c.71G>A (p.Arg24His)
|
rs1330792627
|
0.00001
|
NM_024426.6(WT1):c.724G>A (p.Ala242Thr)
|
rs1590395740
|
0.00001
|
NM_024426.6(WT1):c.761C>T (p.Pro254Leu)
|
rs1213160959
|
0.00001
|
NM_024426.6(WT1):c.763A>G (p.Met255Val)
|
rs142653301
|
0.00001
|
NM_024426.6(WT1):c.76G>A (p.Gly26Arg)
|
rs1189241211
|
0.00001
|
NM_024426.6(WT1):c.771G>T (p.Gln257His)
|
rs1853140764
|
0.00001
|
NM_024426.6(WT1):c.77G>A (p.Gly26Glu)
|
rs1484558172
|
0.00001
|
NM_024426.6(WT1):c.803T>G (p.Val268Gly)
|
rs765230888
|
0.00001
|
NM_024426.6(WT1):c.815T>C (p.Val272Ala)
|
rs1298646630
|
0.00001
|
NM_024426.6(WT1):c.832C>G (p.Pro278Ala)
|
rs773527284
|
0.00001
|
NM_024426.6(WT1):c.83G>A (p.Gly28Glu)
|
rs751641518
|
0.00001
|
NM_024426.6(WT1):c.850G>A (p.Gly284Ser)
|
rs1271732325
|
0.00001
|
NM_024426.6(WT1):c.86G>A (p.Cys29Tyr)
|
rs992227366
|
0.00001
|
NM_024426.6(WT1):c.887+19C>G
|
rs755113185
|
0.00001
|
NM_024426.6(WT1):c.973G>A (p.Ala325Thr)
|
rs1712081462
|
0.00001
|
NM_024426.6(WT1):c.977G>C (p.Gly326Ala)
|
rs766054482
|
0.00001
|
NM_024426.6(WT1):c.980G>A (p.Ser327Asn)
|
rs1308955642
|
0.00001
|
NM_030665.4(RAI1):c.1471G>A (p.Glu491Lys)
|
rs527757515
|
0.00001
|
NM_030665.4(RAI1):c.226G>A (p.Asp76Asn)
|
rs936181213
|
0.00001
|
NM_030665.4(RAI1):c.3401C>T (p.Pro1134Leu)
|
rs2032247780
|
0.00001
|
NM_030665.4(RAI1):c.4114G>A (p.Gly1372Arg)
|
rs149839441
|
0.00001
|
NM_030665.4(RAI1):c.454C>A (p.Pro152Thr)
|
rs755899326
|
0.00001
|
NM_030665.4(RAI1):c.4963G>A (p.Gly1655Ser)
|
rs794727522
|
0.00001
|
NM_030665.4(RAI1):c.514C>T (p.His172Tyr)
|
rs143161740
|
0.00001
|
NM_032322.4(RNF135):c.575C>T (p.Thr192Ile)
|
rs1907708509
|
0.00001
|
NM_078480.3(PUF60):c.1489A>G (p.Ile497Val)
|
rs756399764
|
0.00001
|
NM_078480.3(PUF60):c.239A>G (p.Lys80Arg)
|
rs1411433335
|
0.00001
|
NM_080647.1(TBX1):c.34+6C>T
|
rs1263773731
|
0.00001
|
NM_144997.7(FLCN):c.1087A>T (p.Met363Leu)
|
rs1313891453
|
0.00001
|
NM_144997.7(FLCN):c.1315G>A (p.Val439Met)
|
rs112980409
|
0.00001
|
NM_144997.7(FLCN):c.1363G>A (p.Glu455Lys)
|
rs759637055
|
0.00001
|
NM_144997.7(FLCN):c.1635C>G (p.Asp545Glu)
|
rs760329266
|
0.00001
|
NM_144997.7(FLCN):c.1709G>A (p.Arg570His)
|
rs201056799
|
0.00001
|
NM_144997.7(FLCN):c.175C>T (p.Arg59Cys)
|
rs778275358
|
0.00001
|
NM_144997.7(FLCN):c.179C>T (p.Ala60Val)
|
rs779900587
|
0.00001
|
NM_144997.7(FLCN):c.221C>T (p.Pro74Leu)
|
rs773648142
|
0.00001
|
NM_144997.7(FLCN):c.230A>C (p.Lys77Thr)
|
rs746556970
|
0.00001
|
NM_144997.7(FLCN):c.251G>T (p.Gly84Val)
|
rs1386417463
|
0.00001
|
NM_144997.7(FLCN):c.451G>A (p.Val151Met)
|
rs147164515
|
0.00001
|
NM_144997.7(FLCN):c.498C>G (p.Phe166Leu)
|
rs1040675580
|
0.00001
|
NM_144997.7(FLCN):c.49C>T (p.Arg17Cys)
|
rs765251703
|
0.00001
|
NM_144997.7(FLCN):c.535C>T (p.Arg179Trp)
|
rs774358971
|
0.00001
|
NM_144997.7(FLCN):c.562T>A (p.Phe188Ile)
|
rs1407566775
|
0.00001
|
NM_144997.7(FLCN):c.581G>A (p.Arg194Gln)
|
rs756807584
|
0.00001
|
NM_144997.7(FLCN):c.644G>A (p.Cys215Tyr)
|
rs370074267
|
0.00001
|
NM_144997.7(FLCN):c.734C>A (p.Thr245Lys)
|
rs371401039
|
0.00001
|
NM_144997.7(FLCN):c.748C>A (p.Leu250Met)
|
rs898441209
|
0.00001
|
NM_144997.7(FLCN):c.833C>T (p.Pro278Leu)
|
rs748031634
|
0.00001
|
NM_144997.7(FLCN):c.986C>T (p.Ser329Phe)
|
rs770027312
|
0.00001
|
46;XY;t(12;14)(q15;q13)mat
|
|
|
46;XY;t(20;22)(q13.3;q11.2)
|
|
|
GRCh37/hg19 15q11.2(chr15:22744149-23407579)x3
|
|
|
GRCh37/hg19 22q11.21-11.22(chr22:21905051-22989041)x3
|
|
|
GRCh37/hg19 3q21.2-21.3(chr3:124981934-126093700)x3
|
|
|
GRCh37/hg19 3q29(chr3:194790394-197961930)x3
|
|
|
GRCh37/hg19 5p15.1(chr5:15086014-15868591)x3
|
|
|
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)
|
|
|
GRCh38/hg38 15q11.2(chr15:22781888-23030923)
|
|
|
GRCh38/hg38 15q11.2(chr15:22787668-23051531)
|
|
|
GRCh38/hg38 15q11.2(chr15:22787849-23051049)
|
|
|
GRCh38/hg38 22q11.21(chr22:19334035-19430073)
|
|
|
GRCh38/hg38 2q23.1(chr2:148120444-148180182)
|
|
|
NC_000002.11:g.(?_149216308)_(149270530_?)dup
|
|
|
NC_000002.11:g.(?_200136914)_(200298257_?)dup
|
|
|
NC_000002.11:g.(?_200136934)_(200246563_?)dup
|
|
|
NC_000002.11:g.(?_200173463)_(200320780_?)dup
|
|
|
NC_000002.11:g.(?_200245067)_(200320760_?)dup
|
|
|
NC_000005.9:g.(?_175158654)_(179263593_?)dup
|
|
|
NC_000005.9:g.(?_176618865)_(177036696_?)dup
|
|
|
NC_000011.10:g.(?_32416480)_(32417664_?)del
|
|
|
NC_000011.9:g.(?_32410594)_(32421600_?)dup
|
|
|
NC_000011.9:g.(?_32410604)_(32410745_?)dup
|
|
|
NC_000011.9:g.(?_95523863)_(95569448_?)dup
|
|
|
NC_000011.9:g.(?_95550941)_(95551077_?)del
|
|
|
NC_000014.9:g.20013858_20436718dup
|
|
|
NC_000015.10:g.(?_40183704)_(40185652_?)del
|
|
|
NC_000015.10:g.(?_90747383)_(90769596_?)dup
|
|
|
NC_000015.10:g.(?_90766904)_(90767029_?)del
|
|
|
NC_000015.10:g.(?_90782812)_(90968837_?)dup
|
|
|
NC_000015.10:g.31722025_32224686dup
|
|
|
NC_000015.9:g.(?_32964879)_(91358519_?)dup
|
|
|
NC_000015.9:g.(?_40453416)_(40512966_?)dup
|
|
|
NC_000015.9:g.(?_40453422)_(40512960_?)dup
|
|
|
NC_000015.9:g.(?_40457244)_(40457407_?)dup
|
|
|
NC_000015.9:g.(?_91259558)_(91359692_?)dup
|
|
|
NC_000015.9:g.(?_91290613)_(91298178_?)dup
|
|
|
NC_000015.9:g.(?_91290617)_(91358515_?)dup
|
|
|
NC_000015.9:g.(?_91290623)_(91358509_?)dup
|
|
|
NC_000015.9:g.(?_91290623)_(91512067_?)dup
|
|
|
NC_000015.9:g.(?_91310130)_(91310263_?)del
|
|
|
NC_000015.9:g.(?_91310130)_(91312471_?)dup
|
|
|
NC_000015.9:g.(?_91310134)_(91310259_?)del
|
|
|
NC_000015.9:g.(?_91341410)_(91358509_?)dup
|
|
|
NC_000015.9:g.(?_91358322)_(91358509_?)dup
|
|
|
NC_000015.9:g.(?_91358322)_(91358519_?)del
|
|
|
NC_000022.10:g.(?_18900668)_(19770565_?)dup
|
|
|
NC_000022.10:g.(?_18900688)_(21351637_?)dup
|
|
|
NC_000022.10:g.(?_18910310)_(19770565_?)dup
|
|
|
NC_000022.10:g.(?_19743226)_(19755855_?)dup
|
|
|
NC_000023.11:g.(?_144988272)_(145271978_?)dup
|
|
|
NM_000057.4(BLM):c.-33G>C
|
rs938444227
|
|
NM_000057.4(BLM):c.-4-2A>T
|
rs866546098
|
|
NM_000057.4(BLM):c.1001T>A (p.Val334Asp)
|
rs1895775882
|
|
NM_000057.4(BLM):c.1003C>G (p.Leu335Val)
|
rs1265514490
|
|
NM_000057.4(BLM):c.1007G>A (p.Ser336Asn)
|
rs2151152181
|
|
NM_000057.4(BLM):c.1012T>C (p.Ser338Pro)
|
|
|
NM_000057.4(BLM):c.1012T>G (p.Ser338Ala)
|
rs2151152195
|
|
NM_000057.4(BLM):c.1015A>G (p.Lys339Glu)
|
rs1596223833
|
|
NM_000057.4(BLM):c.1018G>A (p.Asp340Asn)
|
rs1596223836
|
|
NM_000057.4(BLM):c.1018G>C (p.Asp340His)
|
rs1596223836
|
|
NM_000057.4(BLM):c.1020T>A (p.Asp340Glu)
|
rs2151152205
|
|
NM_000057.4(BLM):c.1021C>A (p.Leu341Ile)
|
|
|
NM_000057.4(BLM):c.1021C>T (p.Leu341Phe)
|
rs2151152210
|
|
NM_000057.4(BLM):c.1025T>C (p.Leu342Ser)
|
rs1596223853
|
|
NM_000057.4(BLM):c.1027T>A (p.Ser343Thr)
|
rs776620199
|
|
NM_000057.4(BLM):c.1034C>T (p.Pro345Leu)
|
|
|
NM_000057.4(BLM):c.1037A>C (p.Glu346Ala)
|
rs1946402648
|
|
NM_000057.4(BLM):c.1043T>C (p.Met348Thr)
|
|
|
NM_000057.4(BLM):c.1044G>T (p.Met348Ile)
|
rs184657475
|
|
NM_000057.4(BLM):c.1045A>G (p.Ser349Gly)
|
rs1895778101
|
|
NM_000057.4(BLM):c.1045_1050del (p.Ser349_Met350del)
|
|
|
NM_000057.4(BLM):c.1046G>A (p.Ser349Asn)
|
rs761783430
|
|
NM_000057.4(BLM):c.1049T>C (p.Met350Thr)
|
|
|
NM_000057.4(BLM):c.1052A>G (p.Gln351Arg)
|
|
|
NM_000057.4(BLM):c.1054G>A (p.Glu352Lys)
|
rs369583279
|
|
NM_000057.4(BLM):c.1057C>G (p.Leu353Val)
|
rs1895778737
|
|
NM_000057.4(BLM):c.1063C>G (p.Pro355Ala)
|
rs1895778825
|
|
NM_000057.4(BLM):c.1064C>A (p.Pro355Gln)
|
|
|
NM_000057.4(BLM):c.1064C>G (p.Pro355Arg)
|
rs1022898915
|
|
NM_000057.4(BLM):c.1064C>T (p.Pro355Leu)
|
rs1022898915
|
|
NM_000057.4(BLM):c.1070C>T (p.Thr357Ile)
|
rs1555419001
|
|
NM_000057.4(BLM):c.1072A>C (p.Ser358Arg)
|
rs1336484885
|
|
NM_000057.4(BLM):c.1073G>A (p.Ser358Asn)
|
|
|
NM_000057.4(BLM):c.1073G>T (p.Ser358Ile)
|
rs750203166
|
|
NM_000057.4(BLM):c.1075A>C (p.Thr359Pro)
|
rs1332024999
|
|
NM_000057.4(BLM):c.1079A>G (p.Asp360Gly)
|
|
|
NM_000057.4(BLM):c.107C>G (p.Thr36Ser)
|
rs1895599706
|
|
NM_000057.4(BLM):c.1087+5A>G
|
|
|
NM_000057.4(BLM):c.1088-35C>T
|
rs1359919212
|
|
NM_000057.4(BLM):c.1088-5T>A
|
|
|
NM_000057.4(BLM):c.1088-5del
|
rs1596228766
|
|
NM_000057.4(BLM):c.1088-8T>G
|
rs1596228765
|
|
NM_000057.4(BLM):c.1088C>T (p.Ala363Val)
|
rs1567040460
|
|
NM_000057.4(BLM):c.1095G>A (p.Gln365=)
|
|
|
NM_000057.4(BLM):c.1096A>C (p.Ile366Leu)
|
rs552913880
|
|
NM_000057.4(BLM):c.1098A>G (p.Ile366Met)
|
|
|
NM_000057.4(BLM):c.10G>A (p.Val4Ile)
|
rs1466614215
|
|
NM_000057.4(BLM):c.10G>C (p.Val4Leu)
|
rs1466614215
|
|
NM_000057.4(BLM):c.10G>T (p.Val4Phe)
|
rs1466614215
|
|
NM_000057.4(BLM):c.1100G>C (p.Ser367Thr)
|
|
|
NM_000057.4(BLM):c.1105C>A (p.Gln369Lys)
|
rs1049658021
|
|
NM_000057.4(BLM):c.1105C>G (p.Gln369Glu)
|
|
|
NM_000057.4(BLM):c.1107G>T (p.Gln369His)
|
rs1895931307
|
|
NM_000057.4(BLM):c.1109A>C (p.Gln370Pro)
|
rs773198283
|
|
NM_000057.4(BLM):c.1114C>A (p.Leu372Ile)
|
rs1480729955
|
|
NM_000057.4(BLM):c.1114C>T (p.Leu372Phe)
|
rs1480729955
|
|
NM_000057.4(BLM):c.1115T>C (p.Leu372Pro)
|
|
|
NM_000057.4(BLM):c.1118T>A (p.Ile373Asn)
|
rs1060500630
|
|
NM_000057.4(BLM):c.1118T>C (p.Ile373Thr)
|
|
|
NM_000057.4(BLM):c.1120C>G (p.His374Asp)
|
rs2151157246
|
|
NM_000057.4(BLM):c.1123G>C (p.Val375Leu)
|
rs1596228852
|
|
NM_000057.4(BLM):c.1126A>C (p.Met376Leu)
|
rs1895932695
|
|
NM_000057.4(BLM):c.1127T>C (p.Met376Thr)
|
rs2151157273
|
|
NM_000057.4(BLM):c.1128G>A (p.Met376Ile)
|
|
|
NM_000057.4(BLM):c.1131G>C (p.Glu377Asp)
|
rs764842587
|
|
NM_000057.4(BLM):c.1132_1134delinsTAT (p.His378Tyr)
|
rs1555419713
|
|
NM_000057.4(BLM):c.1135A>G (p.Ile379Val)
|
rs1895933431
|
|
NM_000057.4(BLM):c.1136T>G (p.Ile379Ser)
|
rs1408233877
|
|
NM_000057.4(BLM):c.1137C>G (p.Ile379Met)
|
rs1178783782
|
|
NM_000057.4(BLM):c.1137C>T (p.Ile379=)
|
|
|
NM_000057.4(BLM):c.1139G>A (p.Cys380Tyr)
|
|
|
NM_000057.4(BLM):c.113A>C (p.Lys38Thr)
|
rs2151146691
|
|
NM_000057.4(BLM):c.113A>G (p.Lys38Arg)
|
rs2151146691
|
|
NM_000057.4(BLM):c.1147A>G (p.Ile383Val)
|
rs1895933936
|
|
NM_000057.4(BLM):c.1150G>A (p.Asp384Asn)
|
|
|
NM_000057.4(BLM):c.1150G>C (p.Asp384His)
|
rs1895934142
|
|
NM_000057.4(BLM):c.1153A>G (p.Thr385Ala)
|
rs1895934308
|
|
NM_000057.4(BLM):c.1157T>G (p.Ile386Ser)
|
rs2151157373
|
|
NM_000057.4(BLM):c.1159C>A (p.Pro387Thr)
|
|
|
NM_000057.4(BLM):c.1163A>G (p.Asp388Gly)
|
|
|
NM_000057.4(BLM):c.1165G>C (p.Asp389His)
|
rs746170218
|
|
NM_000057.4(BLM):c.1166A>G (p.Asp389Gly)
|
rs1555419732
|
|
NM_000057.4(BLM):c.1169A>C (p.Lys390Thr)
|
rs1596228946
|
|
NM_000057.4(BLM):c.1177C>T (p.Leu393Phe)
|
rs1895935448
|
|
NM_000057.4(BLM):c.1190G>A (p.Gly397Glu)
|
rs1596228978
|
|
NM_000057.4(BLM):c.1195G>A (p.Glu399Lys)
|
rs538728271
|
|
NM_000057.4(BLM):c.1197A>T (p.Glu399Asp)
|
rs1596228991
|
|
NM_000057.4(BLM):c.1198C>G (p.Leu400Val)
|
|
|
NM_000057.4(BLM):c.11T>A (p.Val4Asp)
|
rs144706057
|
|
NM_000057.4(BLM):c.1201C>T (p.Leu401Phe)
|
rs151150267
|
|
NM_000057.4(BLM):c.1204C>G (p.Gln402Glu)
|
|
|
NM_000057.4(BLM):c.1205A>G (p.Gln402Arg)
|
|
|
NM_000057.4(BLM):c.1205A>T (p.Gln402Leu)
|
|
|
NM_000057.4(BLM):c.1208A>C (p.Gln403Pro)
|
|
|
NM_000057.4(BLM):c.1209G>C (p.Gln403His)
|
rs1555419741
|
|
NM_000057.4(BLM):c.1211G>T (p.Arg404Leu)
|
rs776516663
|
|
NM_000057.4(BLM):c.1214A>G (p.Asn405Ser)
|
rs752223894
|
|
NM_000057.4(BLM):c.1217T>C (p.Ile406Thr)
|
rs2151157512
|
|
NM_000057.4(BLM):c.1220+3A>T
|
|
|
NM_000057.4(BLM):c.1220G>A (p.Arg407Lys)
|
rs1350192744
|
|
NM_000057.4(BLM):c.1220G>C (p.Arg407Thr)
|
rs1350192744
|
|
NM_000057.4(BLM):c.1221-2A>C
|
rs1555419779
|
|
NM_000057.4(BLM):c.1221-3C>T
|
|
|
NM_000057.4(BLM):c.1221-7T>G
|
|
|
NM_000057.4(BLM):c.1221A>C (p.Arg407Ser)
|
rs900060314
|
|
NM_000057.4(BLM):c.1221A>G (p.Arg407=)
|
rs900060314
|
|
NM_000057.4(BLM):c.1225A>G (p.Lys409Glu)
|
|
|
NM_000057.4(BLM):c.1228C>G (p.Leu410Val)
|
rs200688933
|
|
NM_000057.4(BLM):c.1228C>T (p.Leu410Phe)
|
rs200688933
|
|
NM_000057.4(BLM):c.1231C>G (p.Leu411Val)
|
rs1567040779
|
|
NM_000057.4(BLM):c.1237G>C (p.Glu413Gln)
|
rs887921909
|
|
NM_000057.4(BLM):c.1243G>C (p.Asp415His)
|
|
|
NM_000057.4(BLM):c.1250A>G (p.Asn417Ser)
|
rs2151157798
|
|
NM_000057.4(BLM):c.1253A>T (p.Lys418Ile)
|
|
|
NM_000057.4(BLM):c.1258G>C (p.Asp420His)
|
rs1895947012
|
|
NM_000057.4(BLM):c.1259A>G (p.Asp420Gly)
|
rs773952896
|
|
NM_000057.4(BLM):c.125C>T (p.Ser42Phe)
|
rs763065919
|
|
NM_000057.4(BLM):c.1261G>T (p.Ala421Ser)
|
rs587779879
|
|
NM_000057.4(BLM):c.1262C>G (p.Ala421Gly)
|
|
|
NM_000057.4(BLM):c.1267CTT[1] (p.Leu424del)
|
rs777886082
|
|
NM_000057.4(BLM):c.1274G>A (p.Gly425Asp)
|
rs1244225539
|
|
NM_000057.4(BLM):c.1280T>G (p.Leu427Trp)
|
|
|
NM_000057.4(BLM):c.1287A>C (p.Arg429Ser)
|
|
|
NM_000057.4(BLM):c.1287A>T (p.Arg429Ser)
|
rs1895949043
|
|
NM_000057.4(BLM):c.1289A>T (p.Tyr430Phe)
|
|
|
NM_000057.4(BLM):c.1299T>A (p.Asp433Glu)
|
|
|
NM_000057.4(BLM):c.129_130insTAT (p.Ser43_Asp44insTyr)
|
rs778786003
|
|
NM_000057.4(BLM):c.1304T>C (p.Leu435Pro)
|
|
|
NM_000057.4(BLM):c.1308T>G (p.Asp436Glu)
|
rs140178590
|
|
NM_000057.4(BLM):c.130G>A (p.Asp44Asn)
|
|
|
NM_000057.4(BLM):c.130G>T (p.Asp44Tyr)
|
rs1249086421
|
|
NM_000057.4(BLM):c.1312C>T (p.Pro438Ser)
|
|
|
NM_000057.4(BLM):c.1313C>T (p.Pro438Leu)
|
|
|
NM_000057.4(BLM):c.1319A>G (p.Glu440Gly)
|
rs1567040910
|
|
NM_000057.4(BLM):c.131A>G (p.Asp44Gly)
|
rs1895600607
|
|
NM_000057.4(BLM):c.1321G>A (p.Gly441Ser)
|
|
|
NM_000057.4(BLM):c.1322G>T (p.Gly441Val)
|
rs2151157998
|
|
NM_000057.4(BLM):c.1330T>G (p.Cys444Gly)
|
rs745820610
|
|
NM_000057.4(BLM):c.1331G>A (p.Cys444Tyr)
|
|
|
NM_000057.4(BLM):c.1331G>T (p.Cys444Phe)
|
rs1555419834
|
|
NM_000057.4(BLM):c.1336A>G (p.Thr446Ala)
|
|
|
NM_000057.4(BLM):c.1336A>T (p.Thr446Ser)
|
rs1567040932
|
|
NM_000057.4(BLM):c.1337C>T (p.Thr446Ile)
|
|
|
NM_000057.4(BLM):c.1339G>T (p.Gly447Trp)
|
|
|
NM_000057.4(BLM):c.133A>G (p.Asn45Asp)
|
|
|
NM_000057.4(BLM):c.1341G>T (p.Gly447=)
|
|
|
NM_000057.4(BLM):c.1345T>A (p.Ser449Thr)
|
rs1895952979
|
|
NM_000057.4(BLM):c.1346C>A (p.Ser449Tyr)
|
rs967698170
|
|
NM_000057.4(BLM):c.1346C>G (p.Ser449Cys)
|
rs967698170
|
|
NM_000057.4(BLM):c.1348A>C (p.Met450Leu)
|
|
|
NM_000057.4(BLM):c.1349T>A (p.Met450Lys)
|
rs2151158079
|
|
NM_000057.4(BLM):c.1349T>C (p.Met450Thr)
|
rs2151158079
|
|
NM_000057.4(BLM):c.134A>G (p.Asn45Ser)
|
rs1555418242
|
|
NM_000057.4(BLM):c.1358T>C (p.Leu453Ser)
|
|
|
NM_000057.4(BLM):c.1360A>C (p.Asn454His)
|
|
|
NM_000057.4(BLM):c.1361A>G (p.Asn454Ser)
|
rs1895953927
|
|
NM_000057.4(BLM):c.1364T>G (p.Phe455Cys)
|
|
|
NM_000057.4(BLM):c.1367C>T (p.Ser456Leu)
|
|
|
NM_000057.4(BLM):c.1369C>T (p.His457Tyr)
|
rs1895954255
|
|
NM_000057.4(BLM):c.1370A>C (p.His457Pro)
|
|
|
NM_000057.4(BLM):c.1370A>G (p.His457Arg)
|
rs2151158103
|
|
NM_000057.4(BLM):c.1372C>T (p.Leu458Phe)
|
|
|
NM_000057.4(BLM):c.1376C>A (p.Pro459His)
|
rs1302320494
|
|
NM_000057.4(BLM):c.1388T>G (p.Val463Gly)
|
rs1555419857
|
|
NM_000057.4(BLM):c.138T>G (p.Asn46Lys)
|
rs1895600929
|
|
NM_000057.4(BLM):c.1391C>T (p.Ser464Phe)
|
rs1303724070
|
|
NM_000057.4(BLM):c.1394C>A (p.Pro465His)
|
rs561545349
|
|
NM_000057.4(BLM):c.1397G>A (p.Gly466Glu)
|
rs1567041006
|
|
NM_000057.4(BLM):c.13C>T (p.Pro5Ser)
|
rs760982604
|
|
NM_000057.4(BLM):c.1404T>G (p.Cys468Trp)
|
rs1236929438
|
|
NM_000057.4(BLM):c.1411A>G (p.Thr471Ala)
|
rs2151158175
|
|
NM_000057.4(BLM):c.1421T>C (p.Leu474Pro)
|
|
|
NM_000057.4(BLM):c.1427A>G (p.Lys476Arg)
|
rs2151158198
|
|
NM_000057.4(BLM):c.142T>A (p.Ser48Thr)
|
rs1895601138
|
|
NM_000057.4(BLM):c.1430C>T (p.Thr477Ile)
|
rs1567041041
|
|
NM_000057.4(BLM):c.1432G>C (p.Gly478Arg)
|
rs1490929990
|
|
NM_000057.4(BLM):c.1433G>T (p.Gly478Val)
|
|
|
NM_000057.4(BLM):c.1436T>A (p.Phe479Tyr)
|
rs1418071613
|
|
NM_000057.4(BLM):c.1437C>G (p.Phe479Leu)
|
rs1567041060
|
|
NM_000057.4(BLM):c.1438T>C (p.Ser480Pro)
|
rs1555419877
|
|
NM_000057.4(BLM):c.1439C>T (p.Ser480Phe)
|
rs2151158229
|
|
NM_000057.4(BLM):c.1441G>A (p.Ala481Thr)
|
|
|
NM_000057.4(BLM):c.1444A>C (p.Thr482Pro)
|
|
|
NM_000057.4(BLM):c.1445C>A (p.Thr482Asn)
|
|
|
NM_000057.4(BLM):c.1448G>A (p.Arg483Lys)
|
|
|
NM_000057.4(BLM):c.1449G>C (p.Arg483Ser)
|
|
|
NM_000057.4(BLM):c.1455T>G (p.Asn485Lys)
|
rs2151158261
|
|
NM_000057.4(BLM):c.145G>A (p.Val49Ile)
|
rs558379347
|
|
NM_000057.4(BLM):c.1460T>C (p.Phe487Ser)
|
rs992038495
|
|
NM_000057.4(BLM):c.1462G>A (p.Glu488Lys)
|
rs1477193473
|
|
NM_000057.4(BLM):c.1468C>T (p.Pro490Ser)
|
rs1567041087
|
|
NM_000057.4(BLM):c.1469C>G (p.Pro490Arg)
|
rs878853553
|
|
NM_000057.4(BLM):c.146T>C (p.Val49Ala)
|
rs1895601341
|
|
NM_000057.4(BLM):c.1476C>G (p.Phe492Leu)
|
|
|
NM_000057.4(BLM):c.1476_1487del (p.Phe492_His495del)
|
rs1895959648
|
|
NM_000057.4(BLM):c.1481C>T (p.Thr494Ile)
|
rs751600686
|
|
NM_000057.4(BLM):c.1484A>G (p.His495Arg)
|
rs2151158309
|
|
NM_000057.4(BLM):c.1490A>C (p.Gln497Pro)
|
rs368547042
|
|
NM_000057.4(BLM):c.1491G>T (p.Gln497His)
|
|
|
NM_000057.4(BLM):c.14C>T (p.Pro5Leu)
|
rs1567034056
|
|
NM_000057.4(BLM):c.1501G>A (p.Val501Ile)
|
rs1596230032
|
|
NM_000057.4(BLM):c.1505G>A (p.Ser502Asn)
|
|
|
NM_000057.4(BLM):c.1505G>C (p.Ser502Thr)
|
rs908599703
|
|
NM_000057.4(BLM):c.1508G>A (p.Ser503Asn)
|
rs1352036324
|
|
NM_000057.4(BLM):c.1510A>C (p.Asn504His)
|
|
|
NM_000057.4(BLM):c.1515G>T (p.Trp505Cys)
|
rs1286401716
|
|
NM_000057.4(BLM):c.1525C>A (p.Pro509Thr)
|
|
|
NM_000057.4(BLM):c.1526C>T (p.Pro509Leu)
|
rs1457782246
|
|
NM_000057.4(BLM):c.1530A>T (p.Arg510Ser)
|
|
|
NM_000057.4(BLM):c.1532T>A (p.Leu511Gln)
|
rs1446287900
|
|
NM_000057.4(BLM):c.1532T>G (p.Leu511Arg)
|
rs1446287900
|
|
NM_000057.4(BLM):c.1541A>T (p.Lys514Ile)
|
rs550463714
|
|
NM_000057.4(BLM):c.1542A>C (p.Lys514Asn)
|
|
|
NM_000057.4(BLM):c.1546G>A (p.Glu516Lys)
|
|
|
NM_000057.4(BLM):c.154G>A (p.Val52Met)
|
rs2151146745
|
|
NM_000057.4(BLM):c.1550G>C (p.Ser517Thr)
|
rs2151158461
|
|
NM_000057.4(BLM):c.1552T>C (p.Ser518Pro)
|
rs1596230139
|
|
NM_000057.4(BLM):c.1553C>T (p.Ser518Phe)
|
rs1596230143
|
|
NM_000057.4(BLM):c.1555T>G (p.Tyr519Asp)
|
rs1895964366
|
|
NM_000057.4(BLM):c.1559T>C (p.Phe520Ser)
|
rs1410283592
|
|
NM_000057.4(BLM):c.1561C>T (p.Pro521Ser)
|
rs1451973495
|
|
NM_000057.4(BLM):c.1564G>A (p.Gly522Arg)
|
rs1895965135
|
|
NM_000057.4(BLM):c.1573C>G (p.Leu525Val)
|
rs2151158518
|
|
NM_000057.4(BLM):c.1579A>C (p.Ser527Arg)
|
|
|
NM_000057.4(BLM):c.157T>A (p.Ser53Thr)
|
rs1555418248
|
|
NM_000057.4(BLM):c.1582_1583insTTG (p.Thr528delinsIleAla)
|
|
|
NM_000057.4(BLM):c.1583C>T (p.Thr528Ile)
|
rs1596230185
|
|
NM_000057.4(BLM):c.1585G>A (p.Ala529Thr)
|
|
|
NM_000057.4(BLM):c.1589T>C (p.Val530Ala)
|
rs2151158554
|
|
NM_000057.4(BLM):c.1592A>C (p.Lys531Thr)
|
rs1895966276
|
|
NM_000057.4(BLM):c.1593A>T (p.Lys531Asn)
|
rs1239709333
|
|
NM_000057.4(BLM):c.1594G>A (p.Asp532Asn)
|
|
|
NM_000057.4(BLM):c.1594G>C (p.Asp532His)
|
rs753723424
|
|
NM_000057.4(BLM):c.1595A>G (p.Asp532Gly)
|
rs1895966610
|
|
NM_000057.4(BLM):c.1596_1598del (p.Asp532_Gln533delinsGlu)
|
rs1895966710
|
|
NM_000057.4(BLM):c.1610C>A (p.Thr537Asn)
|
rs1555419928
|
|
NM_000057.4(BLM):c.1612G>A (p.Ala538Thr)
|
rs1318049766
|
|
NM_000057.4(BLM):c.1618A>G (p.Ile540Val)
|
rs1060500641
|
|
NM_000057.4(BLM):c.1619T>A (p.Ile540Lys)
|
rs1596230232
|
|
NM_000057.4(BLM):c.1620A>G (p.Ile540Met)
|
rs1596230234
|
|
NM_000057.4(BLM):c.1622A>G (p.Asn541Ser)
|
rs1240946873
|
|
NM_000057.4(BLM):c.1624G>A (p.Asp542Asn)
|
|
|
NM_000057.4(BLM):c.1624G>T (p.Asp542Tyr)
|
rs1555419932
|
|
NM_000057.4(BLM):c.1626C>A (p.Asp542Glu)
|
rs1895968518
|
|
NM_000057.4(BLM):c.1631A>G (p.Glu544Gly)
|
rs1567041307
|
|
NM_000057.4(BLM):c.1633A>G (p.Arg545Gly)
|
rs1596230280
|
|
NM_000057.4(BLM):c.1634G>A (p.Arg545Lys)
|
|
|
NM_000057.4(BLM):c.1634_1639del (p.Arg545_Glu546del)
|
rs1555419934
|
|
NM_000057.4(BLM):c.164C>G (p.Ala55Gly)
|
rs1895601835
|
|
NM_000057.4(BLM):c.164C>T (p.Ala55Val)
|
rs1895601835
|
|
NM_000057.4(BLM):c.1657A>G (p.Ile553Val)
|
rs778873363
|
|
NM_000057.4(BLM):c.1660G>A (p.Asp554Asn)
|
rs2151158694
|
|
NM_000057.4(BLM):c.1672A>G (p.Ile558Val)
|
|
|
NM_000057.4(BLM):c.1673T>C (p.Ile558Thr)
|
rs1469407831
|
|
NM_000057.4(BLM):c.1675_1676delinsTT (p.Asp559Phe)
|
rs2151158719
|
|
NM_000057.4(BLM):c.1676A>G (p.Asp559Gly)
|
rs1596230337
|
|
NM_000057.4(BLM):c.1676A>T (p.Asp559Val)
|
rs1596230337
|
|
NM_000057.4(BLM):c.1678G>A (p.Asp560Asn)
|
rs746386524
|
|
NM_000057.4(BLM):c.1678G>C (p.Asp560His)
|
rs746386524
|
|
NM_000057.4(BLM):c.1679A>C (p.Asp560Ala)
|
|
|
NM_000057.4(BLM):c.1680_1691del (p.Phe561_Asp564del)
|
|
|
NM_000057.4(BLM):c.1681_1682delinsGA (p.Phe561Asp)
|
rs1895970884
|
|
NM_000057.4(BLM):c.1683TGA[4] (p.Asp566del)
|
rs768095141
|
|
NM_000057.4(BLM):c.1683TGA[6] (p.Asp566dup)
|
rs768095141
|
|
NM_000057.4(BLM):c.1685A>T (p.Asp562Val)
|
rs2151158749
|
|
NM_000057.4(BLM):c.1686T>A (p.Asp562Glu)
|
rs1895971165
|
|
NM_000057.4(BLM):c.1688A>T (p.Asp563Val)
|
rs1288457938
|
|
NM_000057.4(BLM):c.1690G>A (p.Asp564Asn)
|
|
|
NM_000057.4(BLM):c.1691A>G (p.Asp564Gly)
|
rs1555419944
|
|
NM_000057.4(BLM):c.1691A>T (p.Asp564Val)
|
rs1555419944
|
|
NM_000057.4(BLM):c.1705G>A (p.Asp569Asn)
|
|
|
NM_000057.4(BLM):c.1706A>G (p.Asp569Gly)
|
rs1895971955
|
|
NM_000057.4(BLM):c.1708A>C (p.Ile570Leu)
|
rs775758928
|
|
NM_000057.4(BLM):c.1708A>G (p.Ile570Val)
|
rs775758928
|
|
NM_000057.4(BLM):c.1709T>C (p.Ile570Thr)
|
rs1567041376
|
|
NM_000057.4(BLM):c.1712T>C (p.Met571Thr)
|
rs587778109
|
|
NM_000057.4(BLM):c.1715A>C (p.His572Pro)
|
rs763355238
|
|
NM_000057.4(BLM):c.1715A>G (p.His572Arg)
|
rs763355238
|
|
NM_000057.4(BLM):c.1717A>C (p.Asn573His)
|
|
|
NM_000057.4(BLM):c.1719T>A (p.Asn573Lys)
|
rs1895973169
|
|
NM_000057.4(BLM):c.1726G>A (p.Ala576Thr)
|
|
|
NM_000057.4(BLM):c.1729A>C (p.Ser577Arg)
|
rs761955701
|
|
NM_000057.4(BLM):c.172C>A (p.Pro58Thr)
|
rs1596217837
|
|
NM_000057.4(BLM):c.172C>T (p.Pro58Ser)
|
rs1596217837
|
|
NM_000057.4(BLM):c.1730G>A (p.Ser577Asn)
|
rs1567041417
|
|
NM_000057.4(BLM):c.1733A>C (p.Lys578Thr)
|
rs2151158873
|
|
NM_000057.4(BLM):c.1733A>G (p.Lys578Arg)
|
|
|
NM_000057.4(BLM):c.1734A>C (p.Lys578Asn)
|
rs1895974192
|
|
NM_000057.4(BLM):c.1734A>T (p.Lys578Asn)
|
|
|
NM_000057.4(BLM):c.1739C>T (p.Ser580Phe)
|
|
|
NM_000057.4(BLM):c.1744G>C (p.Ala582Pro)
|
|
|
NM_000057.4(BLM):c.1747G>T (p.Ala583Ser)
|
rs1043484811
|
|
NM_000057.4(BLM):c.1748C>T (p.Ala583Val)
|
|
|
NM_000057.4(BLM):c.1753C>A (p.Gln585Lys)
|
|
|
NM_000057.4(BLM):c.1756C>T (p.Pro586Ser)
|
rs1895975290
|
|
NM_000057.4(BLM):c.1761C>G (p.Ile587Met)
|
rs2151158924
|
|
NM_000057.4(BLM):c.1770_1772dup (p.Arg591_Pro592insArg)
|
|
|
NM_000057.4(BLM):c.1771C>G (p.Arg591Gly)
|
|
|
NM_000057.4(BLM):c.1781A>T (p.Lys594Ile)
|
rs2151158958
|
|
NM_000057.4(BLM):c.1786G>A (p.Val596Ile)
|
rs1596230556
|
|
NM_000057.4(BLM):c.1796G>C (p.Arg599Thr)
|
|
|
NM_000057.4(BLM):c.1798C>T (p.Leu600Phe)
|
rs1466022684
|
|
NM_000057.4(BLM):c.17A>C (p.Gln6Pro)
|
rs1248128883
|
|
NM_000057.4(BLM):c.1802C>A (p.Ser601Tyr)
|
rs751951251
|
|
NM_000057.4(BLM):c.1802C>G (p.Ser601Cys)
|
rs751951251
|
|
NM_000057.4(BLM):c.1802C>T (p.Ser601Phe)
|
rs751951251
|
|
NM_000057.4(BLM):c.1804T>G (p.Ser602Ala)
|
rs1895977282
|
|
NM_000057.4(BLM):c.1805C>T (p.Ser602Leu)
|
rs2151159026
|
|
NM_000057.4(BLM):c.1808C>A (p.Ala603Asp)
|
rs1567041486
|
|
NM_000057.4(BLM):c.1808C>G (p.Ala603Gly)
|
rs1567041486
|
|
NM_000057.4(BLM):c.1810A>G (p.Lys604Glu)
|
|
|
NM_000057.4(BLM):c.1817A>T (p.Asp606Val)
|
|
|
NM_000057.4(BLM):c.1818C>G (p.Asp606Glu)
|
|
|
NM_000057.4(BLM):c.1819T>C (p.Cys607Arg)
|
|
|
NM_000057.4(BLM):c.1825C>T (p.Pro609Ser)
|
|
|
NM_000057.4(BLM):c.1826C>T (p.Pro609Leu)
|
rs1895978264
|
|
NM_000057.4(BLM):c.182G>T (p.Arg61Ile)
|
rs1060500644
|
|
NM_000057.4(BLM):c.1832C>T (p.Ser611Leu)
|
rs1895978539
|
|
NM_000057.4(BLM):c.1837A>C (p.Thr613Pro)
|
|
|
NM_000057.4(BLM):c.1840G>A (p.Ala614Thr)
|
rs1895978868
|
|
NM_000057.4(BLM):c.1840G>C (p.Ala614Pro)
|
|
|
NM_000057.4(BLM):c.1844A>G (p.Gln615Arg)
|
rs1895978967
|
|
NM_000057.4(BLM):c.1846A>T (p.Asn616Tyr)
|
rs1895979171
|
|
NM_000057.4(BLM):c.1849A>G (p.Ile617Val)
|
|
|
NM_000057.4(BLM):c.1850T>C (p.Ile617Thr)
|
rs868510206
|
|
NM_000057.4(BLM):c.1856_1858del (p.Phe619del)
|
rs1555419996
|
|
NM_000057.4(BLM):c.1857C>G (p.Phe619Leu)
|
|
|
NM_000057.4(BLM):c.1863G>C (p.Glu621Asp)
|
rs374965438
|
|
NM_000057.4(BLM):c.1868T>C (p.Ile623Thr)
|
rs1567041556
|
|
NM_000057.4(BLM):c.186T>A (p.Asn62Lys)
|
rs146735953
|
|
NM_000057.4(BLM):c.1871A>G (p.Gln624Arg)
|
rs2151159195
|
|
NM_000057.4(BLM):c.1879A>G (p.Thr627Ala)
|
rs1895981084
|
|
NM_000057.4(BLM):c.1880C>T (p.Thr627Ile)
|
|
|
NM_000057.4(BLM):c.1882G>A (p.Asp628Asn)
|
|
|
NM_000057.4(BLM):c.1883-19A>G
|
|
|
NM_000057.4(BLM):c.1888T>A (p.Ser630Thr)
|
rs1567042153
|
|
NM_000057.4(BLM):c.1888T>C (p.Ser630Pro)
|
rs1567042153
|
|
NM_000057.4(BLM):c.1891G>C (p.Ala631Pro)
|
|
|
NM_000057.4(BLM):c.1894C>A (p.Gln632Lys)
|
rs746857727
|
|
NM_000057.4(BLM):c.1895A>C (p.Gln632Pro)
|
rs1896025240
|
|
NM_000057.4(BLM):c.1907C>G (p.Ser636Cys)
|
rs1596232081
|
|
NM_000057.4(BLM):c.1909A>G (p.Arg637Gly)
|
|
|
NM_000057.4(BLM):c.190G>C (p.Asp64His)
|
rs1895602796
|
|
NM_000057.4(BLM):c.1913A>G (p.Asn638Ser)
|
rs587778110
|
|
NM_000057.4(BLM):c.1915C>A (p.Leu639Met)
|
|
|
NM_000057.4(BLM):c.1918A>G (p.Lys640Glu)
|
|
|
NM_000057.4(BLM):c.191A>C (p.Asp64Ala)
|
rs140382474
|
|
NM_000057.4(BLM):c.1922A>T (p.His641Leu)
|
rs2151160545
|
|
NM_000057.4(BLM):c.1927C>A (p.Arg643Ser)
|
rs373090621
|
|
NM_000057.4(BLM):c.1928G>T (p.Arg643Leu)
|
|
|
NM_000057.4(BLM):c.1934A>G (p.Gln645Arg)
|
rs377563699
|
|
NM_000057.4(BLM):c.1934A>T (p.Gln645Leu)
|
rs377563699
|
|
NM_000057.4(BLM):c.1937G>C (p.Ser646Thr)
|
|
|
NM_000057.4(BLM):c.1939C>G (p.Leu647Val)
|
rs1896027269
|
|
NM_000057.4(BLM):c.1939C>T (p.Leu647Phe)
|
rs1896027269
|
|
NM_000057.4(BLM):c.193G>A (p.Val65Ile)
|
rs1895603124
|
|
NM_000057.4(BLM):c.1940T>C (p.Leu647Pro)
|
rs1555420162
|
|
NM_000057.4(BLM):c.1949C>T (p.Pro650Leu)
|
rs2151160613
|
|
NM_000057.4(BLM):c.1958A>C (p.Lys653Thr)
|
rs1896028357
|
|
NM_000057.4(BLM):c.1958A>T (p.Lys653Met)
|
rs1896028357
|
|
NM_000057.4(BLM):c.1964TGA[1] (p.Met656del)
|
rs1555420164
|
|
NM_000057.4(BLM):c.1965G>C (p.Met655Ile)
|
rs369777747
|
|
NM_000057.4(BLM):c.1966A>G (p.Met656Val)
|
rs2151160648
|
|
NM_000057.4(BLM):c.196A>G (p.Asn66Asp)
|
|
|
NM_000057.4(BLM):c.1970A>T (p.Lys657Met)
|
rs1896029053
|
|
NM_000057.4(BLM):c.1972A>G (p.Ile658Val)
|
rs1567042248
|
|
NM_000057.4(BLM):c.1973T>C (p.Ile658Thr)
|
rs187379039
|
|
NM_000057.4(BLM):c.1978C>T (p.His660Tyr)
|
rs139688226
|
|
NM_000057.4(BLM):c.1979A>G (p.His660Arg)
|
rs1896029572
|
|
NM_000057.4(BLM):c.1987T>A (p.Phe663Ile)
|
|
|
NM_000057.4(BLM):c.1995G>T (p.Leu665=)
|
|
|
NM_000057.4(BLM):c.199G>A (p.Val67Ile)
|
rs991350762
|
|
NM_000057.4(BLM):c.1A>G (p.Met1Val)
|
|
|
NM_000057.4(BLM):c.2016G>C (p.Gln672His)
|
|
|
NM_000057.4(BLM):c.2024C>G (p.Ala675Gly)
|
|
|
NM_000057.4(BLM):c.2032G>T (p.Ala678Ser)
|
|
|
NM_000057.4(BLM):c.2035G>A (p.Ala679Thr)
|
rs1896031109
|
|
NM_000057.4(BLM):c.2050G>A (p.Asp684Asn)
|
rs2151160786
|
|
NM_000057.4(BLM):c.2054G>A (p.Cys685Tyr)
|
rs1896032110
|
|
NM_000057.4(BLM):c.2056T>C (p.Phe686Leu)
|
rs1896032220
|
|
NM_000057.4(BLM):c.205G>A (p.Glu69Lys)
|
rs746195311
|
|
NM_000057.4(BLM):c.2060T>C (p.Ile687Thr)
|
|
|
NM_000057.4(BLM):c.2061C>G (p.Ile687Met)
|
rs2151160806
|
|
NM_000057.4(BLM):c.2063T>C (p.Leu688Pro)
|
|
|
NM_000057.4(BLM):c.2069C>T (p.Pro690Leu)
|
rs761589072
|
|
NM_000057.4(BLM):c.2071A>T (p.Thr691Ser)
|
rs2151160830
|
|
NM_000057.4(BLM):c.2072C>T (p.Thr691Ile)
|
rs1896032772
|
|
NM_000057.4(BLM):c.2074+5_2074+8del
|
|
|
NM_000057.4(BLM):c.2075-14T>G
|
|
|
NM_000057.4(BLM):c.2075-3C>T
|
rs1896091271
|
|
NM_000057.4(BLM):c.2077G>A (p.Gly693Ser)
|
rs565078630
|
|
NM_000057.4(BLM):c.2084A>G (p.Lys695Arg)
|
rs2151162329
|
|
NM_000057.4(BLM):c.2086A>G (p.Ser696Gly)
|
rs1896091802
|
|
NM_000057.4(BLM):c.208G>A (p.Asp70Asn)
|
rs769957028
|
|
NM_000057.4(BLM):c.2090T>C (p.Leu697Ser)
|
rs1896092004
|
|
NM_000057.4(BLM):c.2096A>G (p.Tyr699Cys)
|
|
|
NM_000057.4(BLM):c.209A>G (p.Asp70Gly)
|
rs2151146849
|
|
NM_000057.4(BLM):c.2101C>A (p.Leu701Ile)
|
|
|
NM_000057.4(BLM):c.2102T>G (p.Leu701Arg)
|
rs759414733
|
|
NM_000057.4(BLM):c.2110T>C (p.Cys704Arg)
|
|
|
NM_000057.4(BLM):c.2113G>C (p.Val705Leu)
|
rs767321886
|
|
NM_000057.4(BLM):c.2114T>A (p.Val705Asp)
|
rs1596234166
|
|
NM_000057.4(BLM):c.2117C>T (p.Ser706Phe)
|
rs1596234178
|
|
NM_000057.4(BLM):c.211T>A (p.Phe71Ile)
|
|
|
NM_000057.4(BLM):c.211T>C (p.Phe71Leu)
|
rs2151146855
|
|
NM_000057.4(BLM):c.2122G>A (p.Gly708Arg)
|
rs1555420390
|
|
NM_000057.4(BLM):c.2122G>C (p.Gly708Arg)
|
rs1555420390
|
|
NM_000057.4(BLM):c.2123G>A (p.Gly708Glu)
|
rs763559820
|
|
NM_000057.4(BLM):c.2126T>A (p.Val709Asp)
|
rs1896094774
|
|
NM_000057.4(BLM):c.2131G>A (p.Val711Ile)
|
rs2151162449
|
|
NM_000057.4(BLM):c.2134_2136del (p.Val712del)
|
|
|
NM_000057.4(BLM):c.2137A>G (p.Ile713Val)
|
rs1896094984
|
|
NM_000057.4(BLM):c.2139T>G (p.Ile713Met)
|
rs1896095110
|
|
NM_000057.4(BLM):c.2141C>G (p.Ser714Cys)
|
|
|
NM_000057.4(BLM):c.2143C>T (p.Pro715Ser)
|
rs1060500636
|
|
NM_000057.4(BLM):c.2150G>C (p.Arg717Thr)
|
rs28406486
|
|
NM_000057.4(BLM):c.2155C>T (p.Leu719Phe)
|
rs587779881
|
|
NM_000057.4(BLM):c.2159T>C (p.Ile720Thr)
|
|
|
NM_000057.4(BLM):c.2165A>G (p.Asp722Gly)
|
rs1896096525
|
|
NM_000057.4(BLM):c.2167C>G (p.Gln723Glu)
|
rs2151162501
|
|
NM_000057.4(BLM):c.2170G>A (p.Val724Ile)
|
rs1896096762
|
|
NM_000057.4(BLM):c.2171T>G (p.Val724Gly)
|
|
|
NM_000057.4(BLM):c.2183C>A (p.Thr728Asn)
|
rs1567043208
|
|
NM_000057.4(BLM):c.2183C>G (p.Thr728Ser)
|
rs1567043208
|
|
NM_000057.4(BLM):c.2185T>G (p.Ser729Ala)
|
rs2151162523
|
|
NM_000057.4(BLM):c.2186C>T (p.Ser729Phe)
|
|
|
NM_000057.4(BLM):c.2191G>A (p.Asp731Asn)
|
rs1459619445
|
|
NM_000057.4(BLM):c.2193+5G>C
|
|
|
NM_000057.4(BLM):c.2194A>T (p.Ile732Phe)
|
rs1555420546
|
|
NM_000057.4(BLM):c.2197C>T (p.Pro733Ser)
|
|
|
NM_000057.4(BLM):c.2200G>A (p.Ala734Thr)
|
rs1301298294
|
|
NM_000057.4(BLM):c.2200G>T (p.Ala734Ser)
|
rs1301298294
|
|
NM_000057.4(BLM):c.2204C>T (p.Thr735Ile)
|
rs1596235743
|
|
NM_000057.4(BLM):c.2205A>G (p.Thr735=)
|
rs757134420
|
|
NM_000057.4(BLM):c.2206T>C (p.Tyr736His)
|
rs2151163786
|
|
NM_000057.4(BLM):c.220A>G (p.Ser74Gly)
|
rs1895604535
|
|
NM_000057.4(BLM):c.2212A>G (p.Thr738Ala)
|
rs1050741211
|
|
NM_000057.4(BLM):c.2213C>T (p.Thr738Ile)
|
|
|
NM_000057.4(BLM):c.2215G>A (p.Gly739Ser)
|
rs745642690
|
|
NM_000057.4(BLM):c.221G>T (p.Ser74Ile)
|
|
|
NM_000057.4(BLM):c.2224A>T (p.Thr742Ser)
|
rs1596235858
|
|
NM_000057.4(BLM):c.2234A>G (p.Glu745Gly)
|
|
|
NM_000057.4(BLM):c.2236G>A (p.Ala746Thr)
|
rs1896147300
|
|
NM_000057.4(BLM):c.2239A>G (p.Thr747Ala)
|
|
|
NM_000057.4(BLM):c.223G>C (p.Glu75Gln)
|
rs1205667946
|
|
NM_000057.4(BLM):c.2240C>A (p.Thr747Lys)
|
|
|
NM_000057.4(BLM):c.2246T>C (p.Ile749Thr)
|
|
|
NM_000057.4(BLM):c.2251C>T (p.Leu751Phe)
|
rs1292127075
|
|
NM_000057.4(BLM):c.2254C>A (p.Gln752Lys)
|
rs1424485988
|
|
NM_000057.4(BLM):c.2260T>C (p.Ser754Pro)
|
rs2151163946
|
|
NM_000057.4(BLM):c.2269G>C (p.Asp757His)
|
rs2151163965
|
|
NM_000057.4(BLM):c.226C>T (p.Pro76Ser)
|
rs768843912
|
|
NM_000057.4(BLM):c.2271C>A (p.Asp757Glu)
|
|
|
NM_000057.4(BLM):c.2273C>T (p.Pro758Leu)
|
rs2151163980
|
|
NM_000057.4(BLM):c.2275A>G (p.Ile759Val)
|
|
|
NM_000057.4(BLM):c.2276T>C (p.Ile759Thr)
|
rs1056077835
|
|
NM_000057.4(BLM):c.2278A>G (p.Ile760Val)
|
rs1896150112
|
|
NM_000057.4(BLM):c.2278A>T (p.Ile760Leu)
|
|
|
NM_000057.4(BLM):c.2283A>T (p.Lys761Asn)
|
rs1896150452
|
|
NM_000057.4(BLM):c.2288T>A (p.Leu763Gln)
|
|
|
NM_000057.4(BLM):c.228_233del (p.Leu77_Pro78del)
|
rs1555418278
|
|
NM_000057.4(BLM):c.2291A>G (p.Tyr764Cys)
|
|
|
NM_000057.4(BLM):c.229C>G (p.Leu77Val)
|
rs1555418283
|
|
NM_000057.4(BLM):c.2300C>T (p.Pro767Leu)
|
|
|
NM_000057.4(BLM):c.2302G>A (p.Glu768Lys)
|
rs1060500640
|
|
NM_000057.4(BLM):c.2307+1G>C
|
|
|
NM_000057.4(BLM):c.2307+5G>A
|
rs1596236061
|
|
NM_000057.4(BLM):c.2307+5G>C
|
rs1596236061
|
|
NM_000057.4(BLM):c.2307G>A (p.Lys769=)
|
|
|
NM_000057.4(BLM):c.2308-17A>G
|
|
|
NM_000057.4(BLM):c.2312G>A (p.Cys771Tyr)
|
rs1555420831
|
|
NM_000057.4(BLM):c.2312G>T (p.Cys771Phe)
|
|
|
NM_000057.4(BLM):c.2314G>A (p.Ala772Thr)
|
|
|
NM_000057.4(BLM):c.2317A>G (p.Ser773Gly)
|
|
|
NM_000057.4(BLM):c.2318G>A (p.Ser773Asn)
|
rs1896222659
|
|
NM_000057.4(BLM):c.2326C>G (p.Leu776Val)
|
rs1483824560
|
|
NM_000057.4(BLM):c.2329A>G (p.Ile777Val)
|
rs764097842
|
|
NM_000057.4(BLM):c.232C>T (p.Pro78Ser)
|
|
|
NM_000057.4(BLM):c.2330T>C (p.Ile777Thr)
|
rs2151165699
|
|
NM_000057.4(BLM):c.2331T>G (p.Ile777Met)
|
|
|
NM_000057.4(BLM):c.233C>G (p.Pro78Arg)
|
rs2151146905
|
|
NM_000057.4(BLM):c.2344A>G (p.Asn782Asp)
|
|
|
NM_000057.4(BLM):c.2345A>G (p.Asn782Ser)
|
rs1896223925
|
|
NM_000057.4(BLM):c.2350T>C (p.Tyr784His)
|
|
|
NM_000057.4(BLM):c.2351A>T (p.Tyr784Phe)
|
|
|
NM_000057.4(BLM):c.2359A>G (p.Lys787Glu)
|
rs2151165751
|
|
NM_000057.4(BLM):c.2362C>G (p.Leu788Val)
|
rs149754073
|
|
NM_000057.4(BLM):c.2362C>T (p.Leu788Phe)
|
rs149754073
|
|
NM_000057.4(BLM):c.2368G>A (p.Ala790Thr)
|
|
|
NM_000057.4(BLM):c.2368G>C (p.Ala790Pro)
|
|
|
NM_000057.4(BLM):c.2368G>T (p.Ala790Ser)
|
rs777355959
|
|
NM_000057.4(BLM):c.2369C>A (p.Ala790Glu)
|
|
|
NM_000057.4(BLM):c.2369C>T (p.Ala790Val)
|
rs2151165767
|
|
NM_000057.4(BLM):c.2374T>G (p.Phe792Val)
|
rs982156188
|
|
NM_000057.4(BLM):c.2375T>G (p.Phe792Cys)
|
|
|
NM_000057.4(BLM):c.2377G>A (p.Val793Ile)
|
rs1198070682
|
|
NM_000057.4(BLM):c.2383G>A (p.Asp795Asn)
|
|
|
NM_000057.4(BLM):c.2384A>C (p.Asp795Ala)
|
|
|
NM_000057.4(BLM):c.2384A>G (p.Asp795Gly)
|
rs1596238327
|
|
NM_000057.4(BLM):c.2389G>A (p.Ala797Thr)
|
|
|
NM_000057.4(BLM):c.2389G>C (p.Ala797Pro)
|
|
|
NM_000057.4(BLM):c.238A>G (p.Thr80Ala)
|
rs1555418290
|
|
NM_000057.4(BLM):c.2390C>T (p.Ala797Val)
|
rs1896226916
|
|
NM_000057.4(BLM):c.2392C>G (p.His798Asp)
|
rs1896227131
|
|
NM_000057.4(BLM):c.2393A>G (p.His798Arg)
|
rs1596238349
|
|
NM_000057.4(BLM):c.2393A>T (p.His798Leu)
|
rs1596238349
|
|
NM_000057.4(BLM):c.239C>T (p.Thr80Ile)
|
rs766303926
|
|
NM_000057.4(BLM):c.2400C>A (p.Val800=)
|
|
|
NM_000057.4(BLM):c.2402G>C (p.Ser801Thr)
|
rs1348827963
|
|
NM_000057.4(BLM):c.2407-5A>G
|
rs1555420870
|
|
NM_000057.4(BLM):c.2407-7del
|
rs769184675
|
|
NM_000057.4(BLM):c.2407-9del
|
rs747699258
|
|
NM_000057.4(BLM):c.2407T>A (p.Trp803Arg)
|
rs148394770
|
|
NM_000057.4(BLM):c.2414A>G (p.His805Arg)
|
rs766292814
|
|
NM_000057.4(BLM):c.2415T>A (p.His805Gln)
|
rs1896235784
|
|
NM_000057.4(BLM):c.2419T>C (p.Phe807Leu)
|
|
|
NM_000057.4(BLM):c.241A>G (p.Thr81Ala)
|
rs1060500637
|
|
NM_000057.4(BLM):c.2420T>G (p.Phe807Cys)
|
|
|
NM_000057.4(BLM):c.2422C>G (p.Arg808Gly)
|
|
|
NM_000057.4(BLM):c.2427A>G (p.Gln809=)
|
rs1896236372
|
|
NM_000057.4(BLM):c.242C>A (p.Thr81Lys)
|
|
|
NM_000057.4(BLM):c.242C>G (p.Thr81Arg)
|
rs1895606466
|
|
NM_000057.4(BLM):c.2434A>G (p.Lys812Glu)
|
rs763827222
|
|
NM_000057.4(BLM):c.2435A>G (p.Lys812Arg)
|
|
|
NM_000057.4(BLM):c.2438G>C (p.Arg813Thr)
|
|
|
NM_000057.4(BLM):c.2441T>C (p.Met814Thr)
|
rs1596238678
|
|
NM_000057.4(BLM):c.2442G>T (p.Met814Ile)
|
rs1896237351
|
|
NM_000057.4(BLM):c.2445T>G (p.Asn815Lys)
|
rs1896237458
|
|
NM_000057.4(BLM):c.2448G>A (p.Met816Ile)
|
|
|
NM_000057.4(BLM):c.2449C>G (p.Leu817Val)
|
|
|
NM_000057.4(BLM):c.244A>T (p.Asn82Tyr)
|
rs2151146930
|
|
NM_000057.4(BLM):c.2452C>T (p.Arg818Cys)
|
rs1279814185
|
|
NM_000057.4(BLM):c.2453G>T (p.Arg818Leu)
|
rs780514723
|
|
NM_000057.4(BLM):c.2456A>C (p.Gln819Pro)
|
|
|
NM_000057.4(BLM):c.2459A>G (p.Lys820Arg)
|
rs1896238883
|
|
NM_000057.4(BLM):c.245A>G (p.Asn82Ser)
|
rs1555418292
|
|
NM_000057.4(BLM):c.2460G>T (p.Lys820Asn)
|
rs1596238751
|
|
NM_000057.4(BLM):c.2465C>G (p.Pro822Arg)
|
rs2151166181
|
|
NM_000057.4(BLM):c.2468C>G (p.Ser823Cys)
|
|
|
NM_000057.4(BLM):c.2476G>T (p.Val826Leu)
|
rs1319281718
|
|
NM_000057.4(BLM):c.2480T>A (p.Met827Lys)
|
rs748250819
|
|
NM_000057.4(BLM):c.2480T>C (p.Met827Thr)
|
rs748250819
|
|
NM_000057.4(BLM):c.2483C>T (p.Ala828Val)
|
rs2151166225
|
|
NM_000057.4(BLM):c.2485C>T (p.Leu829Phe)
|
|
|
NM_000057.4(BLM):c.2489C>A (p.Thr830Lys)
|
rs759545027
|
|
NM_000057.4(BLM):c.2489C>G (p.Thr830Arg)
|
rs759545027
|
|
NM_000057.4(BLM):c.248A>G (p.Gln83Arg)
|
rs377192173
|
|
NM_000057.4(BLM):c.2491G>A (p.Ala831Thr)
|
rs2151166245
|
|
NM_000057.4(BLM):c.2491G>C (p.Ala831Pro)
|
|
|
NM_000057.4(BLM):c.2492C>T (p.Ala831Val)
|
|
|
NM_000057.4(BLM):c.2495C>T (p.Thr832Ile)
|
|
|
NM_000057.4(BLM):c.24T>G (p.Asn8Lys)
|
rs1060500635
|
|
NM_000057.4(BLM):c.2501A>C (p.Asn834Thr)
|
rs1896241238
|
|
NM_000057.4(BLM):c.2503C>T (p.Pro835Ser)
|
rs2151166278
|
|
NM_000057.4(BLM):c.2506A>G (p.Arg836Gly)
|
rs577806633
|
|
NM_000057.4(BLM):c.2512C>A (p.Gln838Lys)
|
rs2151166312
|
|
NM_000057.4(BLM):c.2515_2517del (p.Lys839del)
|
|
|
NM_000057.4(BLM):c.2516A>C (p.Lys839Thr)
|
|
|
NM_000057.4(BLM):c.2516A>G (p.Lys839Arg)
|
rs756815062
|
|
NM_000057.4(BLM):c.2518G>A (p.Asp840Asn)
|
rs1238410843
|
|
NM_000057.4(BLM):c.2518G>C (p.Asp840His)
|
rs1238410843
|
|
NM_000057.4(BLM):c.2519A>C (p.Asp840Ala)
|
rs1896242514
|
|
NM_000057.4(BLM):c.2528C>T (p.Thr843Ile)
|
rs137853152
|
|
NM_000057.4(BLM):c.252A>C (p.Gln84His)
|
rs370062646
|
|
NM_000057.4(BLM):c.2532G>T (p.Gln844His)
|
rs1596238939
|
|
NM_000057.4(BLM):c.2534T>C (p.Leu845Pro)
|
|
|
NM_000057.4(BLM):c.2536A>G (p.Lys846Glu)
|
rs2151166388
|
|
NM_000057.4(BLM):c.2537A>C (p.Lys846Thr)
|
rs2151166394
|
|
NM_000057.4(BLM):c.2539A>C (p.Ile847Leu)
|
rs1896243843
|
|
NM_000057.4(BLM):c.2539A>T (p.Ile847Phe)
|
rs1896243843
|
|
NM_000057.4(BLM):c.2540T>G (p.Ile847Ser)
|
rs756664681
|
|
NM_000057.4(BLM):c.2543T>G (p.Leu848Arg)
|
rs2151166410
|
|
NM_000057.4(BLM):c.2548C>T (p.Pro850Ser)
|
|
|
NM_000057.4(BLM):c.2549C>G (p.Pro850Arg)
|
|
|
NM_000057.4(BLM):c.2549C>T (p.Pro850Leu)
|
rs1896244485
|
|
NM_000057.4(BLM):c.254G>A (p.Arg85Lys)
|
|
|
NM_000057.4(BLM):c.2553G>C (p.Gln851His)
|
|
|
NM_000057.4(BLM):c.2553G>T (p.Gln851His)
|
rs1896244976
|
|
NM_000057.4(BLM):c.2554G>C (p.Val852Leu)
|
rs1896245090
|
|
NM_000057.4(BLM):c.2555+5del
|
|
|
NM_000057.4(BLM):c.2555+6T>C
|
rs1596238993
|
|
NM_000057.4(BLM):c.2556-12G>A
|
|
|
NM_000057.4(BLM):c.2556-18T>G
|
rs2151177989
|
|
NM_000057.4(BLM):c.2556-8T>A
|
rs1567052156
|
|
NM_000057.4(BLM):c.2556G>T (p.Val852=)
|
rs1896650229
|
|
NM_000057.4(BLM):c.2561G>T (p.Ser854Ile)
|
|
|
NM_000057.4(BLM):c.2563A>G (p.Met855Val)
|
rs1567052166
|
|
NM_000057.4(BLM):c.2565G>C (p.Met855Ile)
|
|
|
NM_000057.4(BLM):c.256G>C (p.Val86Leu)
|
rs1596218041
|
|
NM_000057.4(BLM):c.2570T>C (p.Phe857Ser)
|
rs1567052169
|
|
NM_000057.4(BLM):c.2572A>G (p.Asn858Asp)
|
rs1555422355
|
|
NM_000057.4(BLM):c.2574C>T (p.Asn858=)
|
|
|
NM_000057.4(BLM):c.2576G>A (p.Arg859Lys)
|
|
|
NM_000057.4(BLM):c.2579A>G (p.His860Arg)
|
|
|
NM_000057.4(BLM):c.2583T>C (p.Asn861=)
|
rs1896651230
|
|
NM_000057.4(BLM):c.2584C>A (p.Leu862Met)
|
|
|
NM_000057.4(BLM):c.2584C>G (p.Leu862Val)
|
rs1596250300
|
|
NM_000057.4(BLM):c.2594A>C (p.Tyr865Ser)
|
rs777842626
|
|
NM_000057.4(BLM):c.2596G>A (p.Val866Ile)
|
rs1316728192
|
|
NM_000057.4(BLM):c.2601A>C (p.Leu867Phe)
|
|
|
NM_000057.4(BLM):c.2603C>A (p.Pro868Gln)
|
rs2227935
|
|
NM_000057.4(BLM):c.2603C>G (p.Pro868Arg)
|
rs2227935
|
|
NM_000057.4(BLM):c.2605A>C (p.Lys869Gln)
|
rs1555422363
|
|
NM_000057.4(BLM):c.2605A>G (p.Lys869Glu)
|
|
|
NM_000057.4(BLM):c.2608A>C (p.Lys870Gln)
|
rs2151178094
|
|
NM_000057.4(BLM):c.2614A>G (p.Lys872Glu)
|
|
|
NM_000057.4(BLM):c.2617A>G (p.Lys873Glu)
|
rs2151178110
|
|
NM_000057.4(BLM):c.2618A>T (p.Lys873Met)
|
|
|
NM_000057.4(BLM):c.2620G>A (p.Val874Met)
|
rs1896652959
|
|
NM_000057.4(BLM):c.2624C>A (p.Ala875Glu)
|
rs1596250413
|
|
NM_000057.4(BLM):c.2629G>T (p.Asp877Tyr)
|
|
|
NM_000057.4(BLM):c.262G>C (p.Asp88His)
|
rs752379441
|
|
NM_000057.4(BLM):c.262G>T (p.Asp88Tyr)
|
|
|
NM_000057.4(BLM):c.2630A>G (p.Asp877Gly)
|
rs1373872204
|
|
NM_000057.4(BLM):c.2633G>A (p.Cys878Tyr)
|
|
|
NM_000057.4(BLM):c.2639A>G (p.Glu880Gly)
|
rs2151178151
|
|
NM_000057.4(BLM):c.2643G>C (p.Trp881Cys)
|
rs367543039
|
|
NM_000057.4(BLM):c.2643G>T (p.Trp881Cys)
|
|
|
NM_000057.4(BLM):c.2647A>G (p.Arg883Gly)
|
rs1035944262
|
|
NM_000057.4(BLM):c.264CTT[1] (p.Phe90del)
|
rs1555418301
|
|
NM_000057.4(BLM):c.2653C>T (p.His885Tyr)
|
rs2151178164
|
|
NM_000057.4(BLM):c.2656C>T (p.His886Tyr)
|
|
|
NM_000057.4(BLM):c.265T>A (p.Phe89Ile)
|
rs1895607752
|
|
NM_000057.4(BLM):c.2662+3G>A
|
rs1297020716
|
|
NM_000057.4(BLM):c.2662+6T>C
|
|
|
NM_000057.4(BLM):c.2663-13G>A
|
|
|
NM_000057.4(BLM):c.2663-5G>A
|
rs1161787867
|
|
NM_000057.4(BLM):c.2671G>A (p.Gly891Arg)
|
|
|
NM_000057.4(BLM):c.2672G>A (p.Gly891Glu)
|
rs763471784
|
|
NM_000057.4(BLM):c.2673G>T (p.Gly891=)
|
|
|
NM_000057.4(BLM):c.2676A>G (p.Ile892Met)
|
|
|
NM_000057.4(BLM):c.267C>A (p.Phe89Leu)
|
|
|
NM_000057.4(BLM):c.2683T>G (p.Cys895Gly)
|
rs587779883
|
|
NM_000057.4(BLM):c.2686C>G (p.Leu896Val)
|
rs151309611
|
|
NM_000057.4(BLM):c.2686C>T (p.Leu896Phe)
|
rs151309611
|
|
NM_000057.4(BLM):c.2689T>C (p.Ser897Pro)
|
rs1896706876
|
|
NM_000057.4(BLM):c.2695C>G (p.Arg899Gly)
|
rs587779884
|
|
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr)
|
rs758311406
|
|
NM_000057.4(BLM):c.2702G>T (p.Cys901Phe)
|
rs758311406
|
|
NM_000057.4(BLM):c.2705A>G (p.Asp902Gly)
|
|
|
NM_000057.4(BLM):c.2708C>A (p.Thr903Asn)
|
rs777584683
|
|
NM_000057.4(BLM):c.2711T>C (p.Met904Thr)
|
|
|
NM_000057.4(BLM):c.2713G>A (p.Ala905Thr)
|
rs1596252085
|
|
NM_000057.4(BLM):c.2716G>A (p.Asp906Asn)
|
rs2151179756
|
|
NM_000057.4(BLM):c.2718C>A (p.Asp906Glu)
|
|
|
NM_000057.4(BLM):c.2719A>G (p.Thr907Ala)
|
rs2151179767
|
|
NM_000057.4(BLM):c.271A>G (p.Lys91Glu)
|
|
|
NM_000057.4(BLM):c.2725C>G (p.Gln909Glu)
|
rs1456964727
|
|
NM_000057.4(BLM):c.2725_2751del (p.Gln909_Ala917del)
|
|
|
NM_000057.4(BLM):c.2726A>C (p.Gln909Pro)
|
rs770627241
|
|
NM_000057.4(BLM):c.2729G>C (p.Arg910Thr)
|
rs1567053290
|
|
NM_000057.4(BLM):c.2732A>T (p.Asp911Val)
|
rs1596252149
|
|
NM_000057.4(BLM):c.2735G>A (p.Gly912Glu)
|
rs2151179803
|
|
NM_000057.4(BLM):c.2743G>A (p.Ala915Thr)
|
rs1896709530
|
|
NM_000057.4(BLM):c.2743G>C (p.Ala915Pro)
|
|
|
NM_000057.4(BLM):c.2746C>G (p.Leu916Val)
|
rs1424143421
|
|
NM_000057.4(BLM):c.2755C>A (p.His919Asn)
|
rs1284859576
|
|
NM_000057.4(BLM):c.2755C>G (p.His919Asp)
|
|
|
NM_000057.4(BLM):c.2759C>G (p.Ala920Gly)
|
|
|
NM_000057.4(BLM):c.2762G>T (p.Gly921Val)
|
|
|
NM_000057.4(BLM):c.2768G>A (p.Ser923Asn)
|
rs1219485932
|
|
NM_000057.4(BLM):c.2768G>C (p.Ser923Thr)
|
rs1219485932
|
|
NM_000057.4(BLM):c.2769T>A (p.Ser923Arg)
|
|
|
NM_000057.4(BLM):c.2773T>G (p.Ser925Ala)
|
rs1896710618
|
|
NM_000057.4(BLM):c.2774C>A (p.Ser925Tyr)
|
rs2151179877
|
|
NM_000057.4(BLM):c.2774C>T (p.Ser925Phe)
|
|
|
NM_000057.4(BLM):c.2776G>T (p.Ala926Ser)
|
rs1896710799
|
|
NM_000057.4(BLM):c.2779A>G (p.Arg927Gly)
|
rs1896710903
|
|
NM_000057.4(BLM):c.277G>A (p.Ala93Thr)
|
|
|
NM_000057.4(BLM):c.2780G>C (p.Arg927Thr)
|
|
|
NM_000057.4(BLM):c.2782G>T (p.Asp928Tyr)
|
|
|
NM_000057.4(BLM):c.2783A>G (p.Asp928Gly)
|
rs1896711135
|
|
NM_000057.4(BLM):c.2787A>C (p.Glu929Asp)
|
rs764679551
|
|
NM_000057.4(BLM):c.2789T>G (p.Val930Gly)
|
rs2151179915
|
|
NM_000057.4(BLM):c.278C>A (p.Ala93Asp)
|
rs2151147003
|
|
NM_000057.4(BLM):c.2792A>G (p.Gln931Arg)
|
rs1178355159
|
|
NM_000057.4(BLM):c.2797A>G (p.Lys933Glu)
|
|
|
NM_000057.4(BLM):c.2802G>T (p.Trp934Cys)
|
rs2151179931
|
|
NM_000057.4(BLM):c.280C>T (p.Pro94Ser)
|
rs1417089374
|
|
NM_000057.4(BLM):c.2814T>A (p.Asp938Glu)
|
|
|
NM_000057.4(BLM):c.2823G>A (p.Gln941=)
|
|
|
NM_000057.4(BLM):c.2824-3C>T
|
rs2151184427
|
|
NM_000057.4(BLM):c.2824-7A>G
|
rs374616797
|
|
NM_000057.4(BLM):c.2824G>C (p.Val942Leu)
|
|
|
NM_000057.4(BLM):c.2825T>C (p.Val942Ala)
|
|
|
NM_000057.4(BLM):c.2829C>G (p.Ile943Met)
|
rs1596257034
|
|
NM_000057.4(BLM):c.2833G>A (p.Ala945Thr)
|
rs1896880211
|
|
NM_000057.4(BLM):c.2833G>T (p.Ala945Ser)
|
|
|
NM_000057.4(BLM):c.2837C>A (p.Thr946Lys)
|
rs2151184440
|
|
NM_000057.4(BLM):c.2837C>T (p.Thr946Ile)
|
rs2151184440
|
|
NM_000057.4(BLM):c.283G>A (p.Ala95Thr)
|
rs1432459834
|
|
NM_000057.4(BLM):c.2843C>A (p.Ala948Glu)
|
rs1156545383
|
|
NM_000057.4(BLM):c.2849G>A (p.Gly950Glu)
|
|
|
NM_000057.4(BLM):c.284C>A (p.Ala95Glu)
|
rs751028188
|
|
NM_000057.4(BLM):c.284C>T (p.Ala95Val)
|
rs751028188
|
|
NM_000057.4(BLM):c.2853G>C (p.Met951Ile)
|
|
|
NM_000057.4(BLM):c.2853G>T (p.Met951Ile)
|
rs1896881384
|
|
NM_000057.4(BLM):c.2858T>C (p.Ile953Thr)
|
rs587778102
|
|
NM_000057.4(BLM):c.2872G>T (p.Val958Leu)
|
|
|
NM_000057.4(BLM):c.2873T>A (p.Val958Glu)
|
rs1555423088
|
|
NM_000057.4(BLM):c.2875C>A (p.Arg959=)
|
rs762354041
|
|
NM_000057.4(BLM):c.2881G>A (p.Val961Met)
|
|
|
NM_000057.4(BLM):c.2881G>T (p.Val961Leu)
|
rs1060500639
|
|
NM_000057.4(BLM):c.2882T>C (p.Val961Ala)
|
rs1567056582
|
|
NM_000057.4(BLM):c.2884A>T (p.Ile962Phe)
|
rs1896883323
|
|
NM_000057.4(BLM):c.2887C>A (p.His963Asn)
|
|
|
NM_000057.4(BLM):c.2887C>T (p.His963Tyr)
|
rs367543023
|
|
NM_000057.4(BLM):c.2890G>A (p.Ala964Thr)
|
|
|
NM_000057.4(BLM):c.2891C>T (p.Ala964Val)
|
|
|
NM_000057.4(BLM):c.2893T>A (p.Ser965Thr)
|
rs1349078237
|
|
NM_000057.4(BLM):c.2897T>C (p.Leu966Pro)
|
|
|
NM_000057.4(BLM):c.2900C>A (p.Pro967His)
|
rs2151184560
|
|
NM_000057.4(BLM):c.2900C>G (p.Pro967Arg)
|
|
|
NM_000057.4(BLM):c.2905T>A (p.Ser969Thr)
|
|
|
NM_000057.4(BLM):c.290A>C (p.Gln97Pro)
|
|
|
NM_000057.4(BLM):c.2911G>A (p.Glu971Lys)
|
rs2151184569
|
|
NM_000057.4(BLM):c.2917T>A (p.Tyr973Asn)
|
rs1555423104
|
|
NM_000057.4(BLM):c.2921A>C (p.Tyr974Ser)
|
rs1051102270
|
|
NM_000057.4(BLM):c.2925A>T (p.Gln975His)
|
|
|
NM_000057.4(BLM):c.2929T>G (p.Ser977Ala)
|
rs912097353
|
|
NM_000057.4(BLM):c.292G>A (p.Glu98Lys)
|
rs1895608811
|
|
NM_000057.4(BLM):c.2936G>A (p.Arg979Lys)
|
rs944867688
|
|
NM_000057.4(BLM):c.2938G>A (p.Ala980Thr)
|
rs1041847799
|
|
NM_000057.4(BLM):c.2939C>T (p.Ala980Val)
|
|
|
NM_000057.4(BLM):c.2942G>C (p.Gly981Ala)
|
|
|
NM_000057.4(BLM):c.2945G>A (p.Arg982Lys)
|
rs1281589498
|
|
NM_000057.4(BLM):c.2947G>T (p.Asp983Tyr)
|
rs1896886181
|
|
NM_000057.4(BLM):c.2948A>T (p.Asp983Val)
|
rs1896886266
|
|
NM_000057.4(BLM):c.2955A>C (p.Glu985Asp)
|
|
|
NM_000057.4(BLM):c.2957T>C (p.Ile986Thr)
|
rs1060500631
|
|
NM_000057.4(BLM):c.2960C>G (p.Ser987Cys)
|
rs1555423111
|
|
NM_000057.4(BLM):c.2960C>T (p.Ser987Phe)
|
rs1555423111
|
|
NM_000057.4(BLM):c.2962C>T (p.His988Tyr)
|
rs1896886993
|
|
NM_000057.4(BLM):c.2965T>C (p.Cys989Arg)
|
rs1555423112
|
|
NM_000057.4(BLM):c.2966G>T (p.Cys989Phe)
|
|
|
NM_000057.4(BLM):c.2974T>C (p.Phe992Leu)
|
rs2151184675
|
|
NM_000057.4(BLM):c.2980A>G (p.Thr994Ala)
|
rs1060500632
|
|
NM_000057.4(BLM):c.2983T>A (p.Tyr995Asn)
|
rs142723411
|
|
NM_000057.4(BLM):c.2984A>G (p.Tyr995Cys)
|
rs779755994
|
|
NM_000057.4(BLM):c.2984A>T (p.Tyr995Phe)
|
rs779755994
|
|
NM_000057.4(BLM):c.2986C>T (p.His996Tyr)
|
|
|
NM_000057.4(BLM):c.2988T>G (p.His996Gln)
|
|
|
NM_000057.4(BLM):c.2996C>G (p.Thr999Ser)
|
rs1567056730
|
|
NM_000057.4(BLM):c.2996C>T (p.Thr999Ile)
|
rs1567056730
|
|
NM_000057.4(BLM):c.2999G>C (p.Arg1000Thr)
|
rs1596257309
|
|
NM_000057.4(BLM):c.3000A>T (p.Arg1000Ser)
|
rs1395403568
|
|
NM_000057.4(BLM):c.3010C>T (p.Leu1004Phe)
|
rs778515103
|
|
NM_000057.4(BLM):c.3011T>A (p.Leu1004His)
|
rs2151184755
|
|
NM_000057.4(BLM):c.3012_3014dup (p.Ile1005_Met1006insIle)
|
|
|
NM_000057.4(BLM):c.3013A>G (p.Ile1005Val)
|
rs201829983
|
|
NM_000057.4(BLM):c.3014T>A (p.Ile1005Lys)
|
rs772671554
|
|
NM_000057.4(BLM):c.3015A>G (p.Ile1005Met)
|
rs1567056762
|
|
NM_000057.4(BLM):c.3015_3017del (p.Ile1005del)
|
rs2151184770
|
|
NM_000057.4(BLM):c.3017T>A (p.Met1006Lys)
|
rs1896890020
|
|
NM_000057.4(BLM):c.3020-3T>C
|
rs1896971029
|
|
NM_000057.4(BLM):c.3020-4_3020-3del
|
rs1596259793
|
|
NM_000057.4(BLM):c.3020-7_3020-5del
|
rs1596259785
|
|
NM_000057.4(BLM):c.3023A>T (p.Glu1008Val)
|
rs1896971371
|
|
NM_000057.4(BLM):c.3029A>T (p.Asp1010Val)
|
rs1459742200
|
|
NM_000057.4(BLM):c.3035A>G (p.Asn1012Ser)
|
rs1896971948
|
|
NM_000057.4(BLM):c.3038A>G (p.His1013Arg)
|
rs2151187153
|
|
NM_000057.4(BLM):c.3039T>C (p.His1013=)
|
rs747406569
|
|
NM_000057.4(BLM):c.3040C>G (p.His1014Asp)
|
rs1896972234
|
|
NM_000057.4(BLM):c.3043A>G (p.Thr1015Ala)
|
rs1896972529
|
|
NM_000057.4(BLM):c.3044C>A (p.Thr1015Lys)
|
|
|
NM_000057.4(BLM):c.3046A>G (p.Arg1016Gly)
|
rs1596259855
|
|
NM_000057.4(BLM):c.3047G>C (p.Arg1016Thr)
|
rs2151187181
|
|
NM_000057.4(BLM):c.3049G>C (p.Glu1017Gln)
|
|
|
NM_000057.4(BLM):c.304G>A (p.Gly102Ser)
|
rs1215126785
|
|
NM_000057.4(BLM):c.3050A>G (p.Glu1017Gly)
|
rs2151187186
|
|
NM_000057.4(BLM):c.3052A>G (p.Thr1018Ala)
|
rs1896972868
|
|
NM_000057.4(BLM):c.3055C>G (p.His1019Asp)
|
|
|
NM_000057.4(BLM):c.3056A>C (p.His1019Pro)
|
rs769982824
|
|
NM_000057.4(BLM):c.305G>A (p.Gly102Asp)
|
rs1186813751
|
|
NM_000057.4(BLM):c.3061A>G (p.Asn1021Asp)
|
rs374105075
|
|
NM_000057.4(BLM):c.3062A>T (p.Asn1021Ile)
|
rs369629509
|
|
NM_000057.4(BLM):c.3065A>C (p.Asn1022Thr)
|
rs1567058281
|
|
NM_000057.4(BLM):c.3078G>A (p.Met1026Ile)
|
rs2151187237
|
|
NM_000057.4(BLM):c.3078G>T (p.Met1026Ile)
|
rs2151187237
|
|
NM_000057.4(BLM):c.3080T>C (p.Val1027Ala)
|
rs373868675
|
|
NM_000057.4(BLM):c.3083A>G (p.His1028Arg)
|
rs1487267563
|
|
NM_000057.4(BLM):c.3083A>T (p.His1028Leu)
|
|
|
NM_000057.4(BLM):c.3088T>G (p.Cys1030Gly)
|
rs1896974604
|
|
NM_000057.4(BLM):c.3091G>A (p.Glu1031Lys)
|
rs1396000294
|
|
NM_000057.4(BLM):c.3092A>G (p.Glu1031Gly)
|
rs2151187263
|
|
NM_000057.4(BLM):c.3094A>T (p.Asn1032Tyr)
|
rs1311585637
|
|
NM_000057.4(BLM):c.3101C>A (p.Thr1034Lys)
|
rs753652339
|
|
NM_000057.4(BLM):c.3101C>T (p.Thr1034Met)
|
rs753652339
|
|
NM_000057.4(BLM):c.3106T>A (p.Cys1036Ser)
|
|
|
NM_000057.4(BLM):c.3109A>G (p.Arg1037Gly)
|
rs2151187299
|
|
NM_000057.4(BLM):c.3113G>C (p.Arg1038Thr)
|
rs1555423425
|
|
NM_000057.4(BLM):c.3114A>C (p.Arg1038Ser)
|
rs1896976226
|
|
NM_000057.4(BLM):c.3116T>A (p.Ile1039Lys)
|
rs1896976347
|
|
NM_000057.4(BLM):c.3121C>T (p.Leu1041Phe)
|
rs1224723855
|
|
NM_000057.4(BLM):c.3128C>T (p.Ala1043Val)
|
rs2229035
|
|
NM_000057.4(BLM):c.3131A>C (p.Tyr1044Ser)
|
|
|
NM_000057.4(BLM):c.3135T>G (p.Phe1045Leu)
|
|
|
NM_000057.4(BLM):c.3136G>C (p.Gly1046Arg)
|
rs373241803
|
|
NM_000057.4(BLM):c.3143A>G (p.Asn1048Ser)
|
|
|
NM_000057.4(BLM):c.3146G>A (p.Gly1049Glu)
|
rs2151187363
|
|
NM_000057.4(BLM):c.3148T>C (p.Phe1050Leu)
|
rs2151187365
|
|
NM_000057.4(BLM):c.3153T>A (p.Asn1051Lys)
|
rs1262516507
|
|
NM_000057.4(BLM):c.3154C>A (p.Pro1052Thr)
|
rs1596260044
|
|
NM_000057.4(BLM):c.3154C>T (p.Pro1052Ser)
|
|
|
NM_000057.4(BLM):c.3157G>A (p.Asp1053Asn)
|
|
|
NM_000057.4(BLM):c.3160T>G (p.Phe1054Val)
|
rs2151187383
|
|
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr)
|
rs367543029
|
|
NM_000057.4(BLM):c.3167A>G (p.Lys1056Arg)
|
rs1465842377
|
|
NM_000057.4(BLM):c.3171A>T (p.Lys1057Asn)
|
|
|
NM_000057.4(BLM):c.3181G>A (p.Val1061Ile)
|
|
|
NM_000057.4(BLM):c.3181G>T (p.Val1061Phe)
|
|
|
NM_000057.4(BLM):c.3188G>A (p.Cys1063Tyr)
|
rs2151187434
|
|
NM_000057.4(BLM):c.3188G>T (p.Cys1063Phe)
|
|
|
NM_000057.4(BLM):c.318ATT[1] (p.Leu108del)
|
rs1555418313
|
|
NM_000057.4(BLM):c.3190G>A (p.Asp1064Asn)
|
rs1896979510
|
|
NM_000057.4(BLM):c.3191A>G (p.Asp1064Gly)
|
rs367543032
|
|
NM_000057.4(BLM):c.3199T>C (p.Cys1067Arg)
|
rs1896980012
|
|
NM_000057.4(BLM):c.3200G>A (p.Cys1067Tyr)
|
rs587779885
|
|
NM_000057.4(BLM):c.3210+3A>G
|
|
|
NM_000057.4(BLM):c.3210+3A>T
|
rs2151187459
|
|
NM_000057.4(BLM):c.3211-3T>C
|
rs1897074828
|
|
NM_000057.4(BLM):c.3212A>G (p.Asp1071Gly)
|
rs1897075069
|
|
NM_000057.4(BLM):c.3215A>T (p.Tyr1072Phe)
|
|
|
NM_000057.4(BLM):c.3221C>G (p.Thr1074Arg)
|
rs144021705
|
|
NM_000057.4(BLM):c.3224G>A (p.Arg1075Lys)
|
rs749559270
|
|
NM_000057.4(BLM):c.3227A>T (p.Asp1076Val)
|
rs1897075823
|
|
NM_000057.4(BLM):c.3228T>G (p.Asp1076Glu)
|
rs2151190260
|
|
NM_000057.4(BLM):c.3229G>T (p.Val1077Leu)
|
rs779096973
|
|
NM_000057.4(BLM):c.3230T>C (p.Val1077Ala)
|
|
|
NM_000057.4(BLM):c.3233C>G (p.Thr1078Ser)
|
rs1897076116
|
|
NM_000057.4(BLM):c.3238G>A (p.Asp1080Asn)
|
rs771767745
|
|
NM_000057.4(BLM):c.3238G>C (p.Asp1080His)
|
rs771767745
|
|
NM_000057.4(BLM):c.3239A>C (p.Asp1080Ala)
|
rs775383361
|
|
NM_000057.4(BLM):c.3239A>T (p.Asp1080Val)
|
rs775383361
|
|
NM_000057.4(BLM):c.3242T>A (p.Val1081Glu)
|
rs762716289
|
|
NM_000057.4(BLM):c.3242T>G (p.Val1081Gly)
|
rs762716289
|
|
NM_000057.4(BLM):c.3247A>C (p.Ser1083Arg)
|
rs2151190310
|
|
NM_000057.4(BLM):c.324G>T (p.Leu108Phe)
|
rs1198433222
|
|
NM_000057.4(BLM):c.3250A>G (p.Ile1084Val)
|
|
|
NM_000057.4(BLM):c.3253G>T (p.Val1085Leu)
|
rs761235042
|
|
NM_000057.4(BLM):c.3254T>G (p.Val1085Gly)
|
rs2151190324
|
|
NM_000057.4(BLM):c.3259T>C (p.Phe1087Leu)
|
|
|
NM_000057.4(BLM):c.325C>T (p.Pro109Ser)
|
|
|
NM_000057.4(BLM):c.3260T>G (p.Phe1087Cys)
|
|
|
NM_000057.4(BLM):c.3262G>A (p.Val1088Ile)
|
rs934966838
|
|
NM_000057.4(BLM):c.3262G>C (p.Val1088Leu)
|
rs934966838
|
|
NM_000057.4(BLM):c.3262G>T (p.Val1088Phe)
|
rs934966838
|
|
NM_000057.4(BLM):c.3263T>C (p.Val1088Ala)
|
|
|
NM_000057.4(BLM):c.3265C>G (p.Gln1089Glu)
|
rs1406087403
|
|
NM_000057.4(BLM):c.326C>G (p.Pro109Arg)
|
rs1555418317
|
|
NM_000057.4(BLM):c.3271C>A (p.His1091Asn)
|
rs766959096
|
|
NM_000057.4(BLM):c.3272A>G (p.His1091Arg)
|
rs750954124
|
|
NM_000057.4(BLM):c.3281C>T (p.Ser1094Leu)
|
rs1472603091
|
|
NM_000057.4(BLM):c.3286G>A (p.Gly1096Arg)
|
rs1334208387
|
|
NM_000057.4(BLM):c.3287G>A (p.Gly1096Glu)
|
rs893352310
|
|
NM_000057.4(BLM):c.3287G>C (p.Gly1096Ala)
|
rs893352310
|
|
NM_000057.4(BLM):c.3287G>T (p.Gly1096Val)
|
rs893352310
|
|
NM_000057.4(BLM):c.328G>C (p.Asp110His)
|
|
|
NM_000057.4(BLM):c.328G>T (p.Asp110Tyr)
|
|
|
NM_000057.4(BLM):c.3297T>G (p.Asn1099Lys)
|
rs1596263307
|
|
NM_000057.4(BLM):c.3298A>C (p.Ile1100Leu)
|
rs1897079693
|
|
NM_000057.4(BLM):c.3299T>C (p.Ile1100Thr)
|
|
|
NM_000057.4(BLM):c.3304C>T (p.His1102Tyr)
|
|
|
NM_000057.4(BLM):c.3313C>G (p.Pro1105Ala)
|
|
|
NM_000057.4(BLM):c.3314C>T (p.Pro1105Leu)
|
|
|
NM_000057.4(BLM):c.3317C>T (p.Ser1106Phe)
|
rs769834593
|
|
NM_000057.4(BLM):c.3320G>A (p.Gly1107Glu)
|
|
|
NM_000057.4(BLM):c.3324A>G (p.Arg1108=)
|
rs1596263375
|
|
NM_000057.4(BLM):c.3324A>T (p.Arg1108Ser)
|
rs1596263375
|
|
NM_000057.4(BLM):c.332T>C (p.Phe111Ser)
|
|
|
NM_000057.4(BLM):c.3332T>C (p.Met1111Thr)
|
|
|
NM_000057.4(BLM):c.3334A>G (p.Asn1112Asp)
|
rs1352520577
|
|
NM_000057.4(BLM):c.3335A>G (p.Asn1112Ser)
|
rs1897081867
|
|
NM_000057.4(BLM):c.3336T>A (p.Asn1112Lys)
|
|
|
NM_000057.4(BLM):c.3340C>T (p.Leu1114=)
|
rs1567060305
|
|
NM_000057.4(BLM):c.3346G>A (p.Asp1116Asn)
|
|
|
NM_000057.4(BLM):c.3346G>C (p.Asp1116His)
|
rs936749145
|
|
NM_000057.4(BLM):c.3347A>T (p.Asp1116Val)
|
|
|
NM_000057.4(BLM):c.3352T>G (p.Phe1118Val)
|
rs2151190485
|
|
NM_000057.4(BLM):c.3354C>A (p.Phe1118Leu)
|
rs1351493073
|
|
NM_000057.4(BLM):c.3357G>C (p.Leu1119Phe)
|
|
|
NM_000057.4(BLM):c.3358+4A>G
|
rs1897083090
|
|
NM_000057.4(BLM):c.3358+5G>C
|
rs2151190518
|
|
NM_000057.4(BLM):c.3358G>C (p.Gly1120Arg)
|
rs139773499
|
|
NM_000057.4(BLM):c.3359-3C>G
|
rs765552044
|
|
NM_000057.4(BLM):c.335T>C (p.Leu112Ser)
|
rs1038386076
|
|
NM_000057.4(BLM):c.3362G>A (p.Ser1121Asn)
|
|
|
NM_000057.4(BLM):c.3362G>C (p.Ser1121Thr)
|
rs758753168
|
|
NM_000057.4(BLM):c.3362G>T (p.Ser1121Ile)
|
rs758753168
|
|
NM_000057.4(BLM):c.3365A>C (p.Lys1122Thr)
|
rs1175406197
|
|
NM_000057.4(BLM):c.3367A>C (p.Ser1123Arg)
|
rs1897212324
|
|
NM_000057.4(BLM):c.3367A>T (p.Ser1123Cys)
|
rs1897212324
|
|
NM_000057.4(BLM):c.3371C>T (p.Ala1124Val)
|
rs751765688
|
|
NM_000057.4(BLM):c.3381G>T (p.Gln1127His)
|
rs1596267417
|
|
NM_000057.4(BLM):c.3383_3384delinsATATTTGTATACTT (p.Ser1128delinsTyrIleCysIleLeu)
|
rs1596267423
|
|
NM_000057.4(BLM):c.3385G>C (p.Gly1129Arg)
|
rs781287681
|
|
NM_000057.4(BLM):c.3386G>A (p.Gly1129Asp)
|
rs375841213
|
|
NM_000057.4(BLM):c.3386G>T (p.Gly1129Val)
|
rs375841213
|
|
NM_000057.4(BLM):c.3388A>C (p.Ile1130Leu)
|
|
|
NM_000057.4(BLM):c.3388A>G (p.Ile1130Val)
|
rs1897213239
|
|
NM_000057.4(BLM):c.3388A>T (p.Ile1130Leu)
|
|
|
NM_000057.4(BLM):c.3389T>C (p.Ile1130Thr)
|
|
|
NM_000057.4(BLM):c.338A>G (p.Gln113Arg)
|
rs2151147149
|
|
NM_000057.4(BLM):c.3390A>G (p.Ile1130Met)
|
|
|
NM_000057.4(BLM):c.3394G>C (p.Gly1132Arg)
|
|
|
NM_000057.4(BLM):c.3399A>C (p.Lys1133Asn)
|
|
|
NM_000057.4(BLM):c.3400G>A (p.Gly1134Arg)
|
rs1057516774
|
|
NM_000057.4(BLM):c.3401G>A (p.Gly1134Glu)
|
rs1555424286
|
|
NM_000057.4(BLM):c.3404C>A (p.Ser1135Tyr)
|
|
|
NM_000057.4(BLM):c.3406_3407delinsTT (p.Ala1136Phe)
|
rs2151194224
|
|
NM_000057.4(BLM):c.3412T>G (p.Ser1138Ala)
|
|
|
NM_000057.4(BLM):c.3413C>T (p.Ser1138Leu)
|
|
|
NM_000057.4(BLM):c.3416G>C (p.Arg1139Pro)
|
rs771776126
|
|
NM_000057.4(BLM):c.3418C>T (p.His1140Tyr)
|
rs746602812
|
|
NM_000057.4(BLM):c.3419A>G (p.His1140Arg)
|
rs1897214323
|
|
NM_000057.4(BLM):c.3421A>C (p.Asn1141His)
|
|
|
NM_000057.4(BLM):c.3421A>G (p.Asn1141Asp)
|
|
|
NM_000057.4(BLM):c.3430A>G (p.Arg1144Gly)
|
|
|
NM_000057.4(BLM):c.3431G>T (p.Arg1144Ile)
|
rs1897214758
|
|
NM_000057.4(BLM):c.3434T>C (p.Leu1145Pro)
|
rs1596267524
|
|
NM_000057.4(BLM):c.3436T>C (p.Phe1146Leu)
|
|
|
NM_000057.4(BLM):c.3437T>C (p.Phe1146Ser)
|
|
|
NM_000057.4(BLM):c.343C>A (p.Pro115Thr)
|
rs1173491187
|
|
NM_000057.4(BLM):c.3442A>G (p.Lys1148Glu)
|
rs1596267545
|
|
NM_000057.4(BLM):c.3443A>C (p.Lys1148Thr)
|
rs1897215421
|
|
NM_000057.4(BLM):c.344C>A (p.Pro115Gln)
|
|
|
NM_000057.4(BLM):c.3452T>G (p.Leu1151Arg)
|
rs1897215897
|
|
NM_000057.4(BLM):c.3456C>A (p.Asp1152Glu)
|
rs1897216087
|
|
NM_000057.4(BLM):c.3456C>G (p.Asp1152Glu)
|
rs1897216087
|
|
NM_000057.4(BLM):c.3457A>G (p.Lys1153Glu)
|
rs1897216200
|
|
NM_000057.4(BLM):c.3458A>T (p.Lys1153Met)
|
rs1897216390
|
|
NM_000057.4(BLM):c.3460A>G (p.Ile1154Val)
|
rs2151194288
|
|
NM_000057.4(BLM):c.3467A>T (p.Asp1156Val)
|
rs2151194299
|
|
NM_000057.4(BLM):c.3468T>A (p.Asp1156Glu)
|
rs1325465971
|
|
NM_000057.4(BLM):c.3472G>A (p.Asp1158Asn)
|
rs1567062737
|
|
NM_000057.4(BLM):c.3472G>C (p.Asp1158His)
|
rs1567062737
|
|
NM_000057.4(BLM):c.3478T>A (p.Tyr1160Asn)
|
rs752389778
|
|
NM_000057.4(BLM):c.3481A>G (p.Ile1161Val)
|
rs1897217586
|
|
NM_000057.4(BLM):c.3486T>G (p.Asn1162Lys)
|
|
|
NM_000057.4(BLM):c.348G>C (p.Lys116Asn)
|
rs749535664
|
|
NM_000057.4(BLM):c.3490A>G (p.Asn1164Asp)
|
rs1897217918
|
|
NM_000057.4(BLM):c.3496C>G (p.Gln1166Glu)
|
rs1596267627
|
|
NM_000057.4(BLM):c.3497A>G (p.Gln1166Arg)
|
|
|
NM_000057.4(BLM):c.3497A>T (p.Gln1166Leu)
|
rs371774802
|
|
NM_000057.4(BLM):c.3500C>G (p.Ala1167Gly)
|
rs987150263
|
|
NM_000057.4(BLM):c.3502A>T (p.Ile1168Phe)
|
|
|
NM_000057.4(BLM):c.3503T>C (p.Ile1168Thr)
|
rs1897218823
|
|
NM_000057.4(BLM):c.3509A>T (p.Tyr1170Phe)
|
rs746692894
|
|
NM_000057.4(BLM):c.3511G>A (p.Val1171Met)
|
rs770585247
|
|
NM_000057.4(BLM):c.3512T>G (p.Val1171Gly)
|
|
|
NM_000057.4(BLM):c.3514A>C (p.Met1172Leu)
|
rs745380387
|
|
NM_000057.4(BLM):c.3520G>A (p.Gly1174Arg)
|
rs776156059
|
|
NM_000057.4(BLM):c.3521G>A (p.Gly1174Glu)
|
|
|
NM_000057.4(BLM):c.3524A>G (p.Asn1175Ser)
|
rs1596267710
|
|
NM_000057.4(BLM):c.3529G>A (p.Ala1177Thr)
|
rs1897220102
|
|
NM_000057.4(BLM):c.352G>A (p.Val118Ile)
|
|
|
NM_000057.4(BLM):c.3530C>T (p.Ala1177Val)
|
|
|
NM_000057.4(BLM):c.3533A>C (p.Gln1178Pro)
|
rs1897220395
|
|
NM_000057.4(BLM):c.3535A>G (p.Thr1179Ala)
|
rs1344786638
|
|
NM_000057.4(BLM):c.3536C>T (p.Thr1179Ile)
|
rs1555424324
|
|
NM_000057.4(BLM):c.3545A>G (p.Asn1182Ser)
|
rs767771169
|
|
NM_000057.4(BLM):c.3548G>C (p.Gly1183Ala)
|
|
|
NM_000057.4(BLM):c.3550A>G (p.Asn1184Asp)
|
rs1463025227
|
|
NM_000057.4(BLM):c.3550A>T (p.Asn1184Tyr)
|
rs1463025227
|
|
NM_000057.4(BLM):c.3551A>G (p.Asn1184Ser)
|
rs1596267777
|
|
NM_000057.4(BLM):c.3557A>G (p.Lys1186Arg)
|
rs1897221872
|
|
NM_000057.4(BLM):c.3558+5A>G
|
|
|
NM_000057.4(BLM):c.3558+6G>A
|
rs2151194465
|
|
NM_000057.4(BLM):c.3559G>C (p.Val1187Leu)
|
rs547814390
|
|
NM_000057.4(BLM):c.3560T>C (p.Val1187Ala)
|
|
|
NM_000057.4(BLM):c.3563A>G (p.Asp1188Gly)
|
rs899745787
|
|
NM_000057.4(BLM):c.3574A>C (p.Thr1192Pro)
|
|
|
NM_000057.4(BLM):c.3580A>G (p.Asn1194Asp)
|
|
|
NM_000057.4(BLM):c.3582T>A (p.Asn1194Lys)
|
|
|
NM_000057.4(BLM):c.3584C>G (p.Ser1195Cys)
|
|
|
NM_000057.4(BLM):c.3586A>C (p.Ser1196Arg)
|
|
|
NM_000057.4(BLM):c.3589A>T (p.Ser1197Cys)
|
rs1596268133
|
|
NM_000057.4(BLM):c.3593T>C (p.Val1198Ala)
|
|
|
NM_000057.4(BLM):c.3601_3603del (p.Gln1201del)
|
|
|
NM_000057.4(BLM):c.3604A>G (p.Lys1202Glu)
|
rs1897233454
|
|
NM_000057.4(BLM):c.3606A>C (p.Lys1202Asn)
|
rs1897233523
|
|
NM_000057.4(BLM):c.3608C>G (p.Ala1203Gly)
|
rs757088548
|
|
NM_000057.4(BLM):c.3611T>C (p.Leu1204Ser)
|
|
|
NM_000057.4(BLM):c.3613G>C (p.Val1205Leu)
|
rs28385141
|
|
NM_000057.4(BLM):c.3616G>A (p.Ala1206Thr)
|
rs1897234089
|
|
NM_000057.4(BLM):c.3617C>A (p.Ala1206Glu)
|
rs1319362226
|
|
NM_000057.4(BLM):c.3619A>G (p.Lys1207Glu)
|
|
|
NM_000057.4(BLM):c.3622G>A (p.Val1208Met)
|
|
|
NM_000057.4(BLM):c.362C>G (p.Thr121Ser)
|
rs1567035318
|
|
NM_000057.4(BLM):c.3634G>C (p.Glu1212Gln)
|
rs1897234496
|
|
NM_000057.4(BLM):c.3640A>T (p.Met1214Leu)
|
rs2151194887
|
|
NM_000057.4(BLM):c.3641T>C (p.Met1214Thr)
|
rs1596268211
|
|
NM_000057.4(BLM):c.3643G>T (p.Val1215Phe)
|
|
|
NM_000057.4(BLM):c.3647A>C (p.Lys1216Thr)
|
rs748798772
|
|
NM_000057.4(BLM):c.3647A>G (p.Lys1216Arg)
|
|
|
NM_000057.4(BLM):c.3651A>T (p.Lys1217Asn)
|
rs587779887
|
|
NM_000057.4(BLM):c.3658G>A (p.Gly1220Arg)
|
rs1567063212
|
|
NM_000057.4(BLM):c.3659G>A (p.Gly1220Glu)
|
|
|
NM_000057.4(BLM):c.3659G>C (p.Gly1220Ala)
|
rs1897235538
|
|
NM_000057.4(BLM):c.3668C>A (p.Thr1223Lys)
|
rs772506214
|
|
NM_000057.4(BLM):c.3668C>G (p.Thr1223Arg)
|
rs772506214
|
|
NM_000057.4(BLM):c.3668C>T (p.Thr1223Ile)
|
rs772506214
|
|
NM_000057.4(BLM):c.3671A>C (p.Glu1224Ala)
|
rs1596268259
|
|
NM_000057.4(BLM):c.3683C>A (p.Ser1228Tyr)
|
rs1897236482
|
|
NM_000057.4(BLM):c.3683C>G (p.Ser1228Cys)
|
rs1897236482
|
|
NM_000057.4(BLM):c.3683C>T (p.Ser1228Phe)
|
|
|
NM_000057.4(BLM):c.3685C>G (p.Leu1229Val)
|
rs1555424395
|
|
NM_000057.4(BLM):c.3694G>A (p.Val1232Ile)
|
rs1897236925
|
|
NM_000057.4(BLM):c.369A>G (p.Gln123=)
|
rs1895612419
|
|
NM_000057.4(BLM):c.3700G>A (p.Gly1234Ser)
|
|
|
NM_000057.4(BLM):c.3701G>A (p.Gly1234Asp)
|
|
|
NM_000057.4(BLM):c.3707A>G (p.His1236Arg)
|
|
|
NM_000057.4(BLM):c.370A>C (p.Asn124His)
|
rs2151147208
|
|
NM_000057.4(BLM):c.3730G>A (p.Val1244Ile)
|
rs1249106324
|
|
NM_000057.4(BLM):c.3730G>T (p.Val1244Phe)
|
rs1249106324
|
|
NM_000057.4(BLM):c.3731T>C (p.Val1244Ala)
|
rs771117920
|
|
NM_000057.4(BLM):c.3733A>T (p.Thr1245Ser)
|
rs1555424403
|
|
NM_000057.4(BLM):c.373A>G (p.Thr125Ala)
|
rs1895612811
|
|
NM_000057.4(BLM):c.3740A>G (p.Lys1247Arg)
|
|
|
NM_000057.4(BLM):c.3743A>T (p.Lys1248Met)
|
rs1555424404
|
|
NM_000057.4(BLM):c.3744G>C (p.Lys1248Asn)
|
|
|
NM_000057.4(BLM):c.3748G>A (p.Ala1250Thr)
|
|
|
NM_000057.4(BLM):c.3749C>G (p.Ala1250Gly)
|
|
|
NM_000057.4(BLM):c.3750A>G (p.Ala1250=)
|
rs2151195022
|
|
NM_000057.4(BLM):c.3751+10C>G
|
rs199685140
|
|
NM_000057.4(BLM):c.3751+3G>A
|
|
|
NM_000057.4(BLM):c.3751G>A (p.Glu1251Lys)
|
rs587779888
|
|
NM_000057.4(BLM):c.3752-3C>T
|
|
|
NM_000057.4(BLM):c.3752-7T>G
|
rs1897346976
|
|
NM_000057.4(BLM):c.3757T>G (p.Leu1253Val)
|
rs1249288071
|
|
NM_000057.4(BLM):c.3758T>C (p.Leu1253Ser)
|
rs2151198266
|
|
NM_000057.4(BLM):c.3760T>C (p.Ser1254Pro)
|
|
|
NM_000057.4(BLM):c.3764C>G (p.Ser1255Cys)
|
rs1897347737
|
|
NM_000057.4(BLM):c.3764C>T (p.Ser1255Phe)
|
rs1897347737
|
|
NM_000057.4(BLM):c.3769C>G (p.Pro1257Ala)
|
rs144964365
|
|
NM_000057.4(BLM):c.376C>G (p.Pro126Ala)
|
rs587778106
|
|
NM_000057.4(BLM):c.376C>T (p.Pro126Ser)
|
rs587778106
|
|
NM_000057.4(BLM):c.3774G>C (p.Glu1258Asp)
|
rs1596271783
|
|
NM_000057.4(BLM):c.3775G>A (p.Val1259Ile)
|
rs1897348236
|
|
NM_000057.4(BLM):c.3778T>G (p.Leu1260Val)
|
rs2151198289
|
|
NM_000057.4(BLM):c.377C>G (p.Pro126Arg)
|
rs1060500650
|
|
NM_000057.4(BLM):c.3781C>T (p.Leu1261Phe)
|
rs1567065644
|
|
NM_000057.4(BLM):c.3785A>G (p.Gln1262Arg)
|
|
|
NM_000057.4(BLM):c.3786A>G (p.Gln1262=)
|
rs1567065650
|
|
NM_000057.4(BLM):c.379A>G (p.Thr127Ala)
|
rs528474170
|
|
NM_000057.4(BLM):c.379A>T (p.Thr127Ser)
|
|
|
NM_000057.4(BLM):c.3803A>T (p.Glu1268Val)
|
rs1897348799
|
|
NM_000057.4(BLM):c.380C>T (p.Thr127Ile)
|
rs1895613545
|
|
NM_000057.4(BLM):c.3826G>A (p.Ala1276Thr)
|
rs1567065690
|
|
NM_000057.4(BLM):c.3827C>A (p.Ala1276Glu)
|
rs760554566
|
|
NM_000057.4(BLM):c.382G>A (p.Val128Ile)
|
rs1269873284
|
|
NM_000057.4(BLM):c.3841G>A (p.Val1281Ile)
|
rs1018540956
|
|
NM_000057.4(BLM):c.3841G>T (p.Val1281Leu)
|
|
|
NM_000057.4(BLM):c.3856T>C (p.Ser1286Pro)
|
rs1897350617
|
|
NM_000057.4(BLM):c.3856T>G (p.Ser1286Ala)
|
|
|
NM_000057.4(BLM):c.3857C>A (p.Ser1286Tyr)
|
|
|
NM_000057.4(BLM):c.3857C>G (p.Ser1286Cys)
|
rs1423327905
|
|
NM_000057.4(BLM):c.3859G>C (p.Glu1287Gln)
|
|
|
NM_000057.4(BLM):c.3862T>C (p.Trp1288Arg)
|
rs1897350898
|
|
NM_000057.4(BLM):c.3871C>A (p.Pro1291Thr)
|
rs1234718913
|
|
NM_000057.4(BLM):c.3875-5T>C
|
rs1596273395
|
|
NM_000057.4(BLM):c.3875C>A (p.Ala1292Asp)
|
rs1567066745
|
|
NM_000057.4(BLM):c.3876T>C (p.Ala1292=)
|
rs1596273405
|
|
NM_000057.4(BLM):c.387G>T (p.Lys129Asn)
|
rs2151147257
|
|
NM_000057.4(BLM):c.3880G>A (p.Asp1294Asn)
|
rs560132774
|
|
NM_000057.4(BLM):c.3880G>T (p.Asp1294Tyr)
|
rs560132774
|
|
NM_000057.4(BLM):c.3883A>G (p.Ser1295Gly)
|
|
|
NM_000057.4(BLM):c.3887C>T (p.Ser1296Phe)
|
rs2151199713
|
|
NM_000057.4(BLM):c.3897A>G (p.Ile1299Met)
|
rs1596273455
|
|
NM_000057.4(BLM):c.3899G>A (p.Ser1300Asn)
|
rs1897407938
|
|
NM_000057.4(BLM):c.3899G>C (p.Ser1300Thr)
|
|
|
NM_000057.4(BLM):c.3900C>G (p.Ser1300Arg)
|
rs769564626
|
|
NM_000057.4(BLM):c.3905C>T (p.Ser1302Phe)
|
rs1897408433
|
|
NM_000057.4(BLM):c.3909C>A (p.Ser1303Arg)
|
rs1897408551
|
|
NM_000057.4(BLM):c.3917G>A (p.Gly1306Asp)
|
rs2151199760
|
|
NM_000057.4(BLM):c.3922G>C (p.Gly1308Arg)
|
rs768010078
|
|
NM_000057.4(BLM):c.3923G>C (p.Gly1308Ala)
|
|
|
NM_000057.4(BLM):c.3928A>C (p.Ser1310Arg)
|
|
|
NM_000057.4(BLM):c.392C>T (p.Ser131Phe)
|
|
|
NM_000057.4(BLM):c.3930T>A (p.Ser1310Arg)
|
|
|
NM_000057.4(BLM):c.3930T>G (p.Ser1310Arg)
|
rs886051552
|
|
NM_000057.4(BLM):c.3935C>T (p.Ala1312Val)
|
rs2151199800
|
|
NM_000057.4(BLM):c.3938A>C (p.Glu1313Ala)
|
rs754033839
|
|
NM_000057.4(BLM):c.3943C>T (p.Leu1315Phe)
|
rs959925706
|
|
NM_000057.4(BLM):c.3944_3945delinsCT (p.Leu1315Pro)
|
rs1567066844
|
|
NM_000057.4(BLM):c.3946G>A (p.Asp1316Asn)
|
rs779179608
|
|
NM_000057.4(BLM):c.3946G>C (p.Asp1316His)
|
rs779179608
|
|
NM_000057.4(BLM):c.3948C>A (p.Asp1316Glu)
|
rs375896520
|
|
NM_000057.4(BLM):c.3952G>A (p.Glu1318Lys)
|
|
|
NM_000057.4(BLM):c.3953A>G (p.Glu1318Gly)
|
rs2151199835
|
|
NM_000057.4(BLM):c.3955A>G (p.Ile1319Val)
|
|
|
NM_000057.4(BLM):c.3958C>A (p.Pro1320Thr)
|
rs1596273579
|
|
NM_000057.4(BLM):c.3958C>T (p.Pro1320Ser)
|
|
|
NM_000057.4(BLM):c.3959C>A (p.Pro1320His)
|
rs2151199849
|
|
NM_000057.4(BLM):c.3961G>C (p.Val1321Leu)
|
rs7167216
|
|
NM_000057.4(BLM):c.3961G>T (p.Val1321Leu)
|
|
|
NM_000057.4(BLM):c.3965C>T (p.Ser1322Phe)
|
rs1362006078
|
|
NM_000057.4(BLM):c.3979G>A (p.Ala1327Thr)
|
|
|
NM_000057.4(BLM):c.3979G>T (p.Ala1327Ser)
|
rs2151199875
|
|
NM_000057.4(BLM):c.397G>T (p.Asp133Tyr)
|
rs762621627
|
|
NM_000057.4(BLM):c.3983G>A (p.Ser1328Asn)
|
|
|
NM_000057.4(BLM):c.398A>G (p.Asp133Gly)
|
rs1895614433
|
|
NM_000057.4(BLM):c.3992G>A (p.Arg1331Lys)
|
rs1060500648
|
|
NM_000057.4(BLM):c.3992G>C (p.Arg1331Thr)
|
|
|
NM_000057.4(BLM):c.3993A>C (p.Arg1331Ser)
|
|
|
NM_000057.4(BLM):c.3995A>T (p.Asn1332Ile)
|
|
|
NM_000057.4(BLM):c.4006A>G (p.Arg1336Gly)
|
rs1897414526
|
|
NM_000057.4(BLM):c.4009A>G (p.Lys1337Glu)
|
rs2151199902
|
|
NM_000057.4(BLM):c.4014G>C (p.Lys1338Asn)
|
|
|
NM_000057.4(BLM):c.4016T>G (p.Met1339Arg)
|
rs761320085
|
|
NM_000057.4(BLM):c.4017G>A (p.Met1339Ile)
|
|
|
NM_000057.4(BLM):c.4021G>T (p.Ala1341Ser)
|
rs1596273669
|
|
NM_000057.4(BLM):c.4027C>G (p.Gln1343Glu)
|
|
|
NM_000057.4(BLM):c.4028A>G (p.Gln1343Arg)
|
rs2151199942
|
|
NM_000057.4(BLM):c.4037A>G (p.Lys1346Arg)
|
rs1596273706
|
|
NM_000057.4(BLM):c.4039A>G (p.Arg1347Gly)
|
rs1596273711
|
|
NM_000057.4(BLM):c.4039_4048del (p.Arg1347fs)
|
rs1555425105
|
|
NM_000057.4(BLM):c.403G>A (p.Ala135Thr)
|
|
|
NM_000057.4(BLM):c.403G>C (p.Ala135Pro)
|
rs373832397
|
|
NM_000057.4(BLM):c.4049C>G (p.Thr1350Ser)
|
|
|
NM_000057.4(BLM):c.4057A>G (p.Ser1353Gly)
|
|
|
NM_000057.4(BLM):c.4058G>A (p.Ser1353Asn)
|
rs1897417072
|
|
NM_000057.4(BLM):c.4060_4062del (p.Gly1354del)
|
rs2151200003
|
|
NM_000057.4(BLM):c.4061G>A (p.Gly1354Asp)
|
rs891751726
|
|
NM_000057.4(BLM):c.4061G>T (p.Gly1354Val)
|
rs891751726
|
|
NM_000057.4(BLM):c.4064C>T (p.Ser1355Phe)
|
|
|
NM_000057.4(BLM):c.4068G>C (p.Lys1356Asn)
|
rs587779890
|
|
NM_000057.4(BLM):c.4069G>C (p.Ala1357Pro)
|
rs587778103
|
|
NM_000057.4(BLM):c.406C>T (p.Leu136Phe)
|
|
|
NM_000057.4(BLM):c.4076+1G>C
|
rs752899566
|
|
NM_000057.4(BLM):c.4076+1G>T
|
rs752899566
|
|
NM_000057.4(BLM):c.4076+1del
|
rs763072825
|
|
NM_000057.4(BLM):c.4076+4T>A
|
|
|
NM_000057.4(BLM):c.4076+4T>C
|
rs183176301
|
|
NM_000057.4(BLM):c.4076+6T>A
|
|
|
NM_000057.4(BLM):c.4077-2del
|
|
|
NM_000057.4(BLM):c.4077-8C>G
|
|
|
NM_000057.4(BLM):c.4078G>A (p.Gly1360Arg)
|
rs1897524090
|
|
NM_000057.4(BLM):c.4079G>A (p.Gly1360Glu)
|
rs1258712808
|
|
NM_000057.4(BLM):c.4081T>C (p.Ser1361Pro)
|
|
|
NM_000057.4(BLM):c.4085C>G (p.Ala1362Gly)
|
rs2151202232
|
|
NM_000057.4(BLM):c.4090T>C (p.Cys1364Arg)
|
rs1596276396
|
|
NM_000057.4(BLM):c.4091G>A (p.Cys1364Tyr)
|
|
|
NM_000057.4(BLM):c.4099A>G (p.Ile1367Val)
|
|
|
NM_000057.4(BLM):c.40G>A (p.Glu14Lys)
|
|
|
NM_000057.4(BLM):c.4101A>G (p.Ile1367Met)
|
rs1897525152
|
|
NM_000057.4(BLM):c.4102T>C (p.Ser1368Pro)
|
rs587778104
|
|
NM_000057.4(BLM):c.4118C>A (p.Ser1373Tyr)
|
|
|
NM_000057.4(BLM):c.411_413del (p.Lys138del)
|
rs1895614861
|
|
NM_000057.4(BLM):c.4121C>T (p.Ser1374Phe)
|
rs1897526347
|
|
NM_000057.4(BLM):c.4123A>G (p.Ser1375Gly)
|
rs1897526575
|
|
NM_000057.4(BLM):c.4123del (p.Ser1375fs)
|
rs1555425410
|
|
NM_000057.4(BLM):c.4124G>A (p.Ser1375Asn)
|
rs139115275
|
|
NM_000057.4(BLM):c.4124G>T (p.Ser1375Ile)
|
|
|
NM_000057.4(BLM):c.4132G>T (p.Gly1378Ter)
|
rs1555425417
|
|
NM_000057.4(BLM):c.4136C>T (p.Ser1379Phe)
|
|
|
NM_000057.4(BLM):c.4138A>G (p.Ser1380Gly)
|
|
|
NM_000057.4(BLM):c.4139G>A (p.Ser1380Asn)
|
rs2151202301
|
|
NM_000057.4(BLM):c.413A>G (p.Lys138Arg)
|
rs1895615140
|
|
NM_000057.4(BLM):c.4142C>T (p.Ser1381Leu)
|
rs1277229461
|
|
NM_000057.4(BLM):c.4148C>G (p.Ser1383Ter)
|
rs1567068960
|
|
NM_000057.4(BLM):c.4150C>T (p.His1384Tyr)
|
|
|
NM_000057.4(BLM):c.4151A>T (p.His1384Leu)
|
|
|
NM_000057.4(BLM):c.4152T>A (p.His1384Gln)
|
rs1897528380
|
|
NM_000057.4(BLM):c.4153A>G (p.Thr1385Ala)
|
rs1382270916
|
|
NM_000057.4(BLM):c.4154C>T (p.Thr1385Ile)
|
rs1596276510
|
|
NM_000057.4(BLM):c.4162G>A (p.Ala1388Thr)
|
rs1567068979
|
|
NM_000057.4(BLM):c.4162G>C (p.Ala1388Pro)
|
rs1567068979
|
|
NM_000057.4(BLM):c.4163C>G (p.Ala1388Gly)
|
rs1567068992
|
|
NM_000057.4(BLM):c.4163C>T (p.Ala1388Val)
|
rs1567068992
|
|
NM_000057.4(BLM):c.416T>C (p.Leu139Ser)
|
rs1596218397
|
|
NM_000057.4(BLM):c.4171G>A (p.Gly1391Arg)
|
rs2151202363
|
|
NM_000057.4(BLM):c.4172G>A (p.Gly1391Glu)
|
|
|
NM_000057.4(BLM):c.4175C>G (p.Ala1392Gly)
|
rs1397394866
|
|
NM_000057.4(BLM):c.4177A>C (p.Asn1393His)
|
|
|
NM_000057.4(BLM):c.4178A>G (p.Asn1393Ser)
|
rs1897529855
|
|
NM_000057.4(BLM):c.4181G>A (p.Ser1394Asn)
|
rs2151202380
|
|
NM_000057.4(BLM):c.4193T>C (p.Ile1398Thr)
|
rs2151202391
|
|
NM_000057.4(BLM):c.4196T>C (p.Met1399Thr)
|
rs1567069030
|
|
NM_000057.4(BLM):c.4201C>G (p.Pro1401Ala)
|
|
|
NM_000057.4(BLM):c.4210C>T (p.Pro1404Ser)
|
rs1567069054
|
|
NM_000057.4(BLM):c.4211C>T (p.Pro1404Leu)
|
|
|
NM_000057.4(BLM):c.4214T>C (p.Ile1405Thr)
|
rs763323767
|
|
NM_000057.4(BLM):c.4216_4217del (p.Ile1405_Asn1406insTer)
|
rs1567069065
|
|
NM_000057.4(BLM):c.4220G>C (p.Arg1407Thr)
|
rs557057587
|
|
NM_000057.4(BLM):c.4221A>C (p.Arg1407Ser)
|
rs1567069076
|
|
NM_000057.4(BLM):c.4222C>T (p.Pro1408Ser)
|
|
|
NM_000057.4(BLM):c.4223C>G (p.Pro1408Arg)
|
rs1022266595
|
|
NM_000057.4(BLM):c.4223C>T (p.Pro1408Leu)
|
rs1022266595
|
|
NM_000057.4(BLM):c.4225T>C (p.Phe1409Leu)
|
|
|
NM_000057.4(BLM):c.4228C>T (p.Leu1410Phe)
|
rs1897532582
|
|
NM_000057.4(BLM):c.4229T>G (p.Leu1410Arg)
|
rs2151202442
|
|
NM_000057.4(BLM):c.4230_4231insTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGGCACCTCGGGAGGCCGAGGCTGGCAGATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACACCGTCTCCACCAAAAAAATAAATAGACCGTTTCTT (p.Leu1410_Lys1411insPhePhePhePhePhePheXaaXaaXaaXaaAlaProArgGluAlaGluAlaGlyArgSerLeuAlaValArgSerTrpArgProAlaArgProThrGlnArgAsnThrValSerThrLysLysIleAsnArgProPheLeu)
|
|
|
NM_000057.4(BLM):c.4231A>T (p.Lys1411Ter)
|
rs2151202445
|
|
NM_000057.4(BLM):c.4232A>G (p.Lys1411Arg)
|
rs1897532698
|
|
NM_000057.4(BLM):c.4232A>T (p.Lys1411Met)
|
rs1897532698
|
|
NM_000057.4(BLM):c.4234C>A (p.Pro1412Thr)
|
rs1249221595
|
|
NM_000057.4(BLM):c.4234C>G (p.Pro1412Ala)
|
rs1249221595
|
|
NM_000057.4(BLM):c.4234C>T (p.Pro1412Ser)
|
|
|
NM_000057.4(BLM):c.4235C>T (p.Pro1412Leu)
|
|
|
NM_000057.4(BLM):c.4237del (p.Ser1413fs)
|
rs1454179023
|
|
NM_000057.4(BLM):c.4239A>G (p.Ser1413=)
|
rs1897533354
|
|
NM_000057.4(BLM):c.4241A>G (p.Tyr1414Cys)
|
|
|
NM_000057.4(BLM):c.4248C>G (p.Phe1416Leu)
|
rs1567069125
|
|
NM_000057.4(BLM):c.4251A>C (p.Ser1417=)
|
rs886051553
|
|
NM_000057.4(BLM):c.4252T>A (p.Ter1418Lys)
|
rs1555425441
|
|
NM_000057.4(BLM):c.428C>A (p.Ser143Tyr)
|
rs1488217859
|
|
NM_000057.4(BLM):c.430T>A (p.Ser144Thr)
|
|
|
NM_000057.4(BLM):c.431C>T (p.Ser144Leu)
|
rs1596218439
|
|
NM_000057.4(BLM):c.433C>G (p.Pro145Ala)
|
rs1555418335
|
|
NM_000057.4(BLM):c.434C>A (p.Pro145Gln)
|
rs1895616094
|
|
NM_000057.4(BLM):c.434C>G (p.Pro145Arg)
|
rs1895616094
|
|
NM_000057.4(BLM):c.436G>C (p.Asp146His)
|
rs1895616204
|
|
NM_000057.4(BLM):c.437A>C (p.Asp146Ala)
|
rs902876126
|
|
NM_000057.4(BLM):c.437A>G (p.Asp146Gly)
|
|
|
NM_000057.4(BLM):c.43C>A (p.Arg15Ser)
|
rs148545569
|
|
NM_000057.4(BLM):c.446G>A (p.Ser149Asn)
|
|
|
NM_000057.4(BLM):c.446G>C (p.Ser149Thr)
|
|
|
NM_000057.4(BLM):c.448A>G (p.Thr150Ala)
|
rs1567035400
|
|
NM_000057.4(BLM):c.449C>T (p.Thr150Ile)
|
|
|
NM_000057.4(BLM):c.452T>A (p.Ile151Asn)
|
rs2151147375
|
|
NM_000057.4(BLM):c.454A>G (p.Asn152Asp)
|
rs2151147384
|
|
NM_000057.4(BLM):c.460T>C (p.Trp154Arg)
|
rs1226287991
|
|
NM_000057.4(BLM):c.462G>C (p.Trp154Cys)
|
rs2151147399
|
|
NM_000057.4(BLM):c.463G>T (p.Asp155Tyr)
|
rs2151147403
|
|
NM_000057.4(BLM):c.469A>G (p.Met157Val)
|
rs2151147416
|
|
NM_000057.4(BLM):c.46C>G (p.His16Asp)
|
rs1895533888
|
|
NM_000057.4(BLM):c.46C>T (p.His16Tyr)
|
|
|
NM_000057.4(BLM):c.470T>G (p.Met157Arg)
|
rs773103759
|
|
NM_000057.4(BLM):c.479T>C (p.Phe160Ser)
|
|
|
NM_000057.4(BLM):c.483_491del (p.Asp161_Ser163del)
|
rs773427744
|
|
NM_000057.4(BLM):c.485C>T (p.Thr162Ile)
|
rs1596218602
|
|
NM_000057.4(BLM):c.489T>A (p.Ser163=)
|
rs781044650
|
|
NM_000057.4(BLM):c.489_497dup (p.Glu164_Ser166dup)
|
rs1555418362
|
|
NM_000057.4(BLM):c.491A>C (p.Glu164Ala)
|
rs1555418365
|
|
NM_000057.4(BLM):c.492G>C (p.Glu164Asp)
|
|
|
NM_000057.4(BLM):c.494C>G (p.Thr165Ser)
|
|
|
NM_000057.4(BLM):c.497C>T (p.Ser166Leu)
|
rs896357448
|
|
NM_000057.4(BLM):c.4G>T (p.Ala2Ser)
|
rs199769364
|
|
NM_000057.4(BLM):c.506T>A (p.Phe169Tyr)
|
rs1013299710
|
|
NM_000057.4(BLM):c.507T>G (p.Phe169Leu)
|
|
|
NM_000057.4(BLM):c.50C>T (p.Ser17Leu)
|
rs2151145042
|
|
NM_000057.4(BLM):c.511A>G (p.Thr171Ala)
|
rs1895622104
|
|
NM_000057.4(BLM):c.512C>T (p.Thr171Ile)
|
|
|
NM_000057.4(BLM):c.514C>G (p.Pro172Ala)
|
rs1163233988
|
|
NM_000057.4(BLM):c.514C>T (p.Pro172Ser)
|
|
|
NM_000057.4(BLM):c.517C>A (p.Pro173Thr)
|
rs1458936595
|
|
NM_000057.4(BLM):c.517C>T (p.Pro173Ser)
|
|
|
NM_000057.4(BLM):c.518C>A (p.Pro173His)
|
rs762713320
|
|
NM_000057.4(BLM):c.518C>G (p.Pro173Arg)
|
rs762713320
|
|
NM_000057.4(BLM):c.521A>G (p.Gln174Arg)
|
rs1895622909
|
|
NM_000057.4(BLM):c.524G>A (p.Ser175Asn)
|
rs2151147521
|
|
NM_000057.4(BLM):c.527A>C (p.His176Pro)
|
|
|
NM_000057.4(BLM):c.532G>A (p.Val178Ile)
|
rs1191794374
|
|
NM_000057.4(BLM):c.53C>T (p.Ala18Val)
|
|
|
NM_000057.4(BLM):c.543C>A (p.Ser181Arg)
|
rs761288442
|
|
NM_000057.4(BLM):c.544A>G (p.Thr182Ala)
|
rs1060500643
|
|
NM_000057.4(BLM):c.545C>T (p.Thr182Ile)
|
rs749838731
|
|
NM_000057.4(BLM):c.550C>G (p.Gln184Glu)
|
|
|
NM_000057.4(BLM):c.556T>C (p.Ser186Pro)
|
rs1253019128
|
|
NM_000057.4(BLM):c.559A>C (p.Lys187Gln)
|
|
|
NM_000057.4(BLM):c.559A>G (p.Lys187Glu)
|
rs1895625606
|
|
NM_000057.4(BLM):c.561A>C (p.Lys187Asn)
|
rs2151147608
|
|
NM_000057.4(BLM):c.563A>G (p.Lys188Arg)
|
rs907949967
|
|
NM_000057.4(BLM):c.564G>C (p.Lys188Asn)
|
rs1596218841
|
|
NM_000057.4(BLM):c.565G>A (p.Gly189Ser)
|
rs1180631656
|
|
NM_000057.4(BLM):c.566G>T (p.Gly189Val)
|
|
|
NM_000057.4(BLM):c.568A>G (p.Lys190Glu)
|
rs1895626152
|
|
NM_000057.4(BLM):c.56G>A (p.Arg19Lys)
|
rs2151145055
|
|
NM_000057.4(BLM):c.570G>T (p.Lys190Asn)
|
rs2151147630
|
|
NM_000057.4(BLM):c.574A>T (p.Asn192Tyr)
|
rs2151147636
|
|
NM_000057.4(BLM):c.578T>G (p.Phe193Cys)
|
|
|
NM_000057.4(BLM):c.57A>T (p.Arg19Ser)
|
rs1555418008
|
|
NM_000057.4(BLM):c.582T>A (p.Phe194Leu)
|
rs1895626638
|
|
NM_000057.4(BLM):c.586G>A (p.Ala196Thr)
|
rs1567035597
|
|
NM_000057.4(BLM):c.586G>C (p.Ala196Pro)
|
|
|
NM_000057.4(BLM):c.587C>A (p.Ala196Glu)
|
rs1895626846
|
|
NM_000057.4(BLM):c.592C>G (p.Leu198Val)
|
rs1346738369
|
|
NM_000057.4(BLM):c.598A>G (p.Thr200Ala)
|
rs1895627174
|
|
NM_000057.4(BLM):c.598A>T (p.Thr200Ser)
|
rs1895627174
|
|
NM_000057.4(BLM):c.601A>G (p.Thr201Ala)
|
rs1895627520
|
|
NM_000057.4(BLM):c.604A>C (p.Asn202His)
|
|
|
NM_000057.4(BLM):c.605A>T (p.Asn202Ile)
|
rs1596218921
|
|
NM_000057.4(BLM):c.608C>G (p.Thr203Arg)
|
|
|
NM_000057.4(BLM):c.60_61delinsTG (p.Leu21Val)
|
|
|
NM_000057.4(BLM):c.613A>G (p.Lys205Glu)
|
|
|
NM_000057.4(BLM):c.614A>G (p.Lys205Arg)
|
rs1895628645
|
|
NM_000057.4(BLM):c.615G>C (p.Lys205Asn)
|
rs28903082
|
|
NM_000057.4(BLM):c.615G>T (p.Lys205Asn)
|
rs28903082
|
|
NM_000057.4(BLM):c.617C>A (p.Thr206Asn)
|
|
|
NM_000057.4(BLM):c.617C>T (p.Thr206Ile)
|
|
|
NM_000057.4(BLM):c.620A>T (p.Asp207Val)
|
rs1895629239
|
|
NM_000057.4(BLM):c.623T>G (p.Leu208Trp)
|
rs1555418411
|
|
NM_000057.4(BLM):c.624G>T (p.Leu208Phe)
|
|
|
NM_000057.4(BLM):c.633CTC[1] (p.Ser213del)
|
rs760096957
|
|
NM_000057.4(BLM):c.637T>C (p.Ser213Pro)
|
|
|
NM_000057.4(BLM):c.63TAA[2] (p.Asn23del)
|
|
|
NM_000057.4(BLM):c.645C>G (p.Ser215Arg)
|
rs56218710
|
|
NM_000057.4(BLM):c.64A>G (p.Asn22Asp)
|
rs1370338581
|
|
NM_000057.4(BLM):c.650A>C (p.Gln217Pro)
|
rs1895630967
|
|
NM_000057.4(BLM):c.651A>C (p.Gln217His)
|
rs1258361408
|
|
NM_000057.4(BLM):c.653T>C (p.Ile218Thr)
|
|
|
NM_000057.4(BLM):c.655G>C (p.Asp219His)
|
rs190228320
|
|
NM_000057.4(BLM):c.656A>C (p.Asp219Ala)
|
rs1246909789
|
|
NM_000057.4(BLM):c.656A>T (p.Asp219Val)
|
|
|
NM_000057.4(BLM):c.658T>A (p.Leu220Met)
|
|
|
NM_000057.4(BLM):c.661A>T (p.Thr221Ser)
|
rs1895631812
|
|
NM_000057.4(BLM):c.662C>A (p.Thr221Asn)
|
rs1407804704
|
|
NM_000057.4(BLM):c.662C>G (p.Thr221Ser)
|
|
|
NM_000057.4(BLM):c.667G>A (p.Glu223Lys)
|
rs761533210
|
|
NM_000057.4(BLM):c.668A>G (p.Glu223Gly)
|
rs1895632421
|
|
NM_000057.4(BLM):c.672G>C (p.Gln224His)
|
rs1596219135
|
|
NM_000057.4(BLM):c.676G>T (p.Asp226Tyr)
|
rs2151147916
|
|
NM_000057.4(BLM):c.678_680dup (p.Asp227dup)
|
rs1555418424
|
|
NM_000057.4(BLM):c.679G>A (p.Asp227Asn)
|
rs1555418427
|
|
NM_000057.4(BLM):c.685G>A (p.Glu229Lys)
|
rs1555418428
|
|
NM_000057.4(BLM):c.685G>C (p.Glu229Gln)
|
rs1555418428
|
|
NM_000057.4(BLM):c.687A>C (p.Glu229Asp)
|
|
|
NM_000057.4(BLM):c.690G>T (p.Trp230Cys)
|
rs1895633501
|
|
NM_000057.4(BLM):c.695G>A (p.Ser232Asn)
|
|
|
NM_000057.4(BLM):c.701A>G (p.Asp234Gly)
|
|
|
NM_000057.4(BLM):c.701A>T (p.Asp234Val)
|
rs1895634297
|
|
NM_000057.4(BLM):c.702T>G (p.Asp234Glu)
|
rs1271054585
|
|
NM_000057.4(BLM):c.703G>A (p.Val235Met)
|
rs765696829
|
|
NM_000057.4(BLM):c.706A>C (p.Ile236Leu)
|
rs2151148002
|
|
NM_000057.4(BLM):c.707T>C (p.Ile236Thr)
|
rs1895634770
|
|
NM_000057.4(BLM):c.713T>C (p.Ile238Thr)
|
rs1895635327
|
|
NM_000057.4(BLM):c.715G>C (p.Asp239His)
|
rs200756519
|
|
NM_000057.4(BLM):c.716A>C (p.Asp239Ala)
|
|
|
NM_000057.4(BLM):c.716A>T (p.Asp239Val)
|
rs751699247
|
|
NM_000057.4(BLM):c.719A>G (p.Asp240Gly)
|
rs757324067
|
|
NM_000057.4(BLM):c.719A>T (p.Asp240Val)
|
rs757324067
|
|
NM_000057.4(BLM):c.722G>C (p.Gly241Ala)
|
|
|
NM_000057.4(BLM):c.728T>C (p.Ile243Thr)
|
rs200000438
|
|
NM_000057.4(BLM):c.731C>T (p.Ala244Val)
|
|
|
NM_000057.4(BLM):c.733G>A (p.Glu245Lys)
|
rs772711706
|
|
NM_000057.4(BLM):c.734A>T (p.Glu245Val)
|
|
|
NM_000057.4(BLM):c.736G>C (p.Val246Leu)
|
rs1895637254
|
|
NM_000057.4(BLM):c.739C>T (p.His247Tyr)
|
|
|
NM_000057.4(BLM):c.742A>G (p.Ile248Val)
|
rs558524280
|
|
NM_000057.4(BLM):c.742A>T (p.Ile248Leu)
|
rs558524280
|
|
NM_000057.4(BLM):c.743T>C (p.Ile248Thr)
|
|
|
NM_000057.4(BLM):c.745A>G (p.Asn249Asp)
|
|
|
NM_000057.4(BLM):c.74T>C (p.Leu25Ser)
|
rs1895534883
|
|
NM_000057.4(BLM):c.752A>G (p.Asp251Gly)
|
rs1555418456
|
|
NM_000057.4(BLM):c.752A>T (p.Asp251Val)
|
rs1555418456
|
|
NM_000057.4(BLM):c.754G>A (p.Ala252Thr)
|
rs1895638377
|
|
NM_000057.4(BLM):c.754G>C (p.Ala252Pro)
|
|
|
NM_000057.4(BLM):c.760G>C (p.Glu254Gln)
|
rs181892828
|
|
NM_000057.4(BLM):c.764G>C (p.Ser255Thr)
|
|
|
NM_000057.4(BLM):c.768C>A (p.Asp256Glu)
|
|
|
NM_000057.4(BLM):c.772C>A (p.Leu258Met)
|
rs1895639952
|
|
NM_000057.4(BLM):c.778A>T (p.Thr260Ser)
|
|
|
NM_000057.4(BLM):c.779C>A (p.Thr260Asn)
|
rs2151148184
|
|
NM_000057.4(BLM):c.781C>T (p.His261Tyr)
|
rs1895640326
|
|
NM_000057.4(BLM):c.782A>G (p.His261Arg)
|
rs763166861
|
|
NM_000057.4(BLM):c.793G>C (p.Glu265Gln)
|
rs751718191
|
|
NM_000057.4(BLM):c.794A>G (p.Glu265Gly)
|
rs907073579
|
|
NM_000057.4(BLM):c.796A>G (p.Arg266Gly)
|
rs1895641246
|
|
NM_000057.4(BLM):c.799+4A>C
|
rs1895641639
|
|
NM_000057.4(BLM):c.799+4_799+5delinsCA
|
rs1895641733
|
|
NM_000057.4(BLM):c.799+5C>A
|
|
|
NM_000057.4(BLM):c.79C>T (p.Leu27Phe)
|
|
|
NM_000057.4(BLM):c.7G>A (p.Ala3Thr)
|
rs1895531822
|
|
NM_000057.4(BLM):c.800-13T>A
|
|
|
NM_000057.4(BLM):c.800-6C>A
|
rs2151149470
|
|
NM_000057.4(BLM):c.806G>A (p.Ser269Asn)
|
rs2151149490
|
|
NM_000057.4(BLM):c.809A>G (p.Glu270Gly)
|
rs1895690744
|
|
NM_000057.4(BLM):c.811A>G (p.Lys271Glu)
|
rs1895690937
|
|
NM_000057.4(BLM):c.813GAA[2] (p.Lys273del)
|
rs587779895
|
|
NM_000057.4(BLM):c.813GAA[4] (p.Lys273dup)
|
rs587779895
|
|
NM_000057.4(BLM):c.815A>G (p.Lys272Arg)
|
rs2151149524
|
|
NM_000057.4(BLM):c.819G>T (p.Lys273Asn)
|
rs2151149532
|
|
NM_000057.4(BLM):c.827A>G (p.Glu276Gly)
|
rs2151149556
|
|
NM_000057.4(BLM):c.833C>T (p.Ala278Val)
|
rs1895692100
|
|
NM_000057.4(BLM):c.841C>A (p.His281Asn)
|
|
|
NM_000057.4(BLM):c.841C>T (p.His281Tyr)
|
|
|
NM_000057.4(BLM):c.842A>G (p.His281Arg)
|
rs202042636
|
|
NM_000057.4(BLM):c.843T>G (p.His281Gln)
|
rs1567036601
|
|
NM_000057.4(BLM):c.848C>G (p.Thr283Ser)
|
rs1567036612
|
|
NM_000057.4(BLM):c.853A>G (p.Lys285Glu)
|
|
|
NM_000057.4(BLM):c.856G>A (p.Val286Ile)
|
|
|
NM_000057.4(BLM):c.856G>T (p.Val286Phe)
|
rs758301305
|
|
NM_000057.4(BLM):c.857T>C (p.Val286Ala)
|
|
|
NM_000057.4(BLM):c.859C>A (p.Pro287Thr)
|
rs746748670
|
|
NM_000057.4(BLM):c.862T>A (p.Cys288Ser)
|
rs2151149624
|
|
NM_000057.4(BLM):c.862T>G (p.Cys288Gly)
|
|
|
NM_000057.4(BLM):c.863G>C (p.Cys288Ser)
|
rs1260150929
|
|
NM_000057.4(BLM):c.865A>G (p.Ile289Val)
|
rs1895693953
|
|
NM_000057.4(BLM):c.86A>G (p.Lys29Arg)
|
rs1895535585
|
|
NM_000057.4(BLM):c.874G>C (p.Asp292His)
|
|
|
NM_000057.4(BLM):c.874GAT[3] (p.Asp295del)
|
rs1208432656
|
|
NM_000057.4(BLM):c.874GAT[5] (p.Asp295dup)
|
rs1208432656
|
|
NM_000057.4(BLM):c.881A>G (p.Asp294Gly)
|
rs1895694767
|
|
NM_000057.4(BLM):c.883G>A (p.Asp295Asn)
|
rs146096923
|
|
NM_000057.4(BLM):c.883G>T (p.Asp295Tyr)
|
rs146096923
|
|
NM_000057.4(BLM):c.885T>A (p.Asp295Glu)
|
rs2151149661
|
|
NM_000057.4(BLM):c.886T>C (p.Tyr296His)
|
rs1596221177
|
|
NM_000057.4(BLM):c.887A>G (p.Tyr296Cys)
|
rs775005766
|
|
NM_000057.4(BLM):c.887A>T (p.Tyr296Phe)
|
rs775005766
|
|
NM_000057.4(BLM):c.889G>T (p.Asp297Tyr)
|
|
|
NM_000057.4(BLM):c.895G>A (p.Asp299Asn)
|
|
|
NM_000057.4(BLM):c.899T>C (p.Phe300Ser)
|
|
|
NM_000057.4(BLM):c.905C>T (p.Pro302Leu)
|
rs1895696337
|
|
NM_000057.4(BLM):c.907C>T (p.Pro303Ser)
|
|
|
NM_000057.4(BLM):c.910T>G (p.Ser304Ala)
|
rs2151149729
|
|
NM_000057.4(BLM):c.913C>T (p.Pro305Ser)
|
rs1895696721
|
|
NM_000057.4(BLM):c.917A>G (p.Glu306Gly)
|
rs2151149738
|
|
NM_000057.4(BLM):c.922A>G (p.Ile308Val)
|
rs1596221274
|
|
NM_000057.4(BLM):c.925A>G (p.Ile309Val)
|
|
|
NM_000057.4(BLM):c.926T>C (p.Ile309Thr)
|
rs1895697384
|
|
NM_000057.4(BLM):c.932C>T (p.Ala311Val)
|
|
|
NM_000057.4(BLM):c.933TTC[2] (p.Ser316del)
|
rs564966225
|
|
NM_000057.4(BLM):c.934T>A (p.Ser312Thr)
|
rs372454889
|
|
NM_000057.4(BLM):c.941C>T (p.Ser314Phe)
|
|
|
NM_000057.4(BLM):c.943T>G (p.Ser315Ala)
|
|
|
NM_000057.4(BLM):c.944C>T (p.Ser315Phe)
|
rs1895698325
|
|
NM_000057.4(BLM):c.952T>C (p.Cys318Arg)
|
|
|
NM_000057.4(BLM):c.953G>A (p.Cys318Tyr)
|
|
|
NM_000057.4(BLM):c.954C>G (p.Cys318Trp)
|
rs1596221322
|
|
NM_000057.4(BLM):c.955C>T (p.Leu319Phe)
|
rs1567036793
|
|
NM_000057.4(BLM):c.959+2_959+3insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC
|
|
|
NM_000057.4(BLM):c.959G>C (p.Ser320Thr)
|
rs757112333
|
|
NM_000057.4(BLM):c.962C>T (p.Thr321Met)
|
|
|
NM_000057.4(BLM):c.967A>C (p.Lys323Gln)
|
rs2151152050
|
|
NM_000057.4(BLM):c.972C>A (p.Asp324Glu)
|
|
|
NM_000057.4(BLM):c.976G>A (p.Asp326Asn)
|
rs1013220474
|
|
NM_000057.4(BLM):c.976G>T (p.Asp326Tyr)
|
|
|
NM_000057.4(BLM):c.978C>A (p.Asp326Glu)
|
|
|
NM_000057.4(BLM):c.98+2_98+3insCT
|
|
|
NM_000057.4(BLM):c.98+2dup
|
rs1555418016
|
|
NM_000057.4(BLM):c.98+3_98+6del
|
rs1555418015
|
|
NM_000057.4(BLM):c.980C>A (p.Thr327Asn)
|
rs748581308
|
|
NM_000057.4(BLM):c.980C>G (p.Thr327Ser)
|
rs748581308
|
|
NM_000057.4(BLM):c.980C>T (p.Thr327Ile)
|
|
|
NM_000057.4(BLM):c.982T>G (p.Ser328Ala)
|
rs2151152087
|
|
NM_000057.4(BLM):c.983C>T (p.Ser328Phe)
|
rs2151152099
|
|
NM_000057.4(BLM):c.985G>A (p.Asp329Asn)
|
rs1895774818
|
|
NM_000057.4(BLM):c.985G>C (p.Asp329His)
|
rs1895774818
|
|
NM_000057.4(BLM):c.988A>G (p.Arg330Gly)
|
|
|
NM_000057.4(BLM):c.99-9_99-7del
|
rs1229333064
|
|
NM_000057.4(BLM):c.991A>G (p.Lys331Glu)
|
rs1596223773
|
|
NM_000057.4(BLM):c.994G>C (p.Glu332Gln)
|
rs1596223780
|
|
NM_000057.4(BLM):c.995A>T (p.Glu332Val)
|
rs2151152146
|
|
NM_000057.4(BLM):c.997G>T (p.Asp333Tyr)
|
rs1567037944
|
|
NM_000304.4(PMP22):c.*596G>T
|
rs1205135654
|
|
NM_000304.4(PMP22):c.*63A>C
|
rs1906244590
|
|
NM_000304.4(PMP22):c.*818T>C
|
rs529200588
|
|
NM_000304.4(PMP22):c.*911C>T
|
rs1015965333
|
|
NM_000304.4(PMP22):c.*961C>G
|
rs760879114
|
|
NM_000304.4(PMP22):c.102C>A (p.His34Gln)
|
rs779654897
|
|
NM_000304.4(PMP22):c.124T>C (p.Cys42Arg)
|
|
|
NM_000304.4(PMP22):c.197A>C (p.Gln66Pro)
|
rs1907131144
|
|
NM_000304.4(PMP22):c.266C>A (p.Thr89Asn)
|
rs189205303
|
|
NM_000304.4(PMP22):c.281dup (p.Arg95fs)
|
rs80338763
|
|
NM_000304.4(PMP22):c.341C>T (p.Ala114Val)
|
rs1217342392
|
|
NM_000304.4(PMP22):c.371G>A (p.Trp124Ter)
|
rs1597597683
|
|
NM_000304.4(PMP22):c.372G>A (p.Trp124Ter)
|
rs1597597678
|
|
NM_000304.4(PMP22):c.433dup (p.Leu145fs)
|
rs1567698872
|
|
NM_000501.3(ELN):c.-70G>C
|
rs537200597
|
|
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del)
|
rs781838239
|
|
NM_000501.4(ELN):c.1591_1592delinsTT (p.Ala531Phe)
|
rs863223529
|
|
NM_000612.6(IGF2):c.199G>A (p.Val67Ile)
|
rs1564894953
|
|
NM_000612.6(IGF2):c.27del (p.Met9fs)
|
rs1858943428
|
|
NM_000746.6(CHRNA7):c.992C>T (p.Thr331Ile)
|
|
|
NM_001002295.2(GATA3):c.*264_*265dup
|
rs3839918
|
|
NM_001002295.2(GATA3):c.*265dup
|
rs3839918
|
|
NM_001002295.2(GATA3):c.*356G>A
|
rs886047302
|
|
NM_001002295.2(GATA3):c.*588C>A
|
rs1832985629
|
|
NM_001002295.2(GATA3):c.*592G>A
|
rs1832985780
|
|
NM_001002295.2(GATA3):c.*598G>A
|
rs187150410
|
|
NM_001002295.2(GATA3):c.*647A>G
|
rs563624409
|
|
NM_001002295.2(GATA3):c.*714G>A
|
rs886047303
|
|
NM_001002295.2(GATA3):c.*747G>A
|
rs899862408
|
|
NM_001002295.2(GATA3):c.*863T>A
|
rs1832990708
|
|
NM_001002295.2(GATA3):c.*895T>G
|
rs886047305
|
|
NM_001002295.2(GATA3):c.-287G>A
|
rs886047298
|
|
NM_001002295.2(GATA3):c.-370+28dup
|
rs397846644
|
|
NM_001002295.2(GATA3):c.-413C>T
|
rs540527013
|
|
NM_001002295.2(GATA3):c.-503_-502dup
|
rs60098638
|
|
NM_001002295.2(GATA3):c.-80C>T
|
rs569360560
|
|
NM_001002295.2(GATA3):c.1058G>A (p.Arg353Lys)
|
rs1564405163
|
|
NM_001002295.2(GATA3):c.1256C>T (p.Thr419Met)
|
|
|
NM_001002295.2(GATA3):c.1306C>G (p.Pro436Ala)
|
rs1832975214
|
|
NM_001002295.2(GATA3):c.257G>A (p.Arg86His)
|
rs1245137314
|
|
NM_001002295.2(GATA3):c.273T>A (p.His91Gln)
|
rs2131488207
|
|
NM_001002295.2(GATA3):c.327C>T (p.Ala109=)
|
rs1832681004
|
|
NM_001002295.2(GATA3):c.473C>T (p.Pro158Leu)
|
|
|
NM_001002295.2(GATA3):c.492C>T (p.Asp164=)
|
rs1832688600
|
|
NM_001002295.2(GATA3):c.52G>A (p.Val18Met)
|
|
|
NM_001002295.2(GATA3):c.706C>A (p.Pro236Thr)
|
rs148835259
|
|
NM_001002295.2(GATA3):c.706C>T (p.Pro236Ser)
|
rs148835259
|
|
NM_001002295.2(GATA3):c.708C>A (p.Pro236=)
|
rs143582578
|
|
NM_001002295.2(GATA3):c.827G>T (p.Arg276Leu)
|
|
|
NM_001002295.2(GATA3):c.859G>A (p.Ala287Thr)
|
|
|
NM_001002295.2(GATA3):c.924+3_924+6del
|
|
|
NM_001004356.3(FGFRL1):c.842T>G (p.Leu281Arg)
|
rs1716385543
|
|
NM_001042424.3(NSD2):c.*1370dup
|
rs886059325
|
|
NM_001042424.3(NSD2):c.*2012dup
|
rs766138833
|
|
NM_001042424.3(NSD2):c.-29-6901dup
|
rs886059308
|
|
NM_001042424.3(NSD2):c.2675G>A (p.Arg892Lys)
|
rs2108958817
|
|
NM_001042424.3(NSD2):c.3271G>A (p.Glu1091Lys)
|
rs2108976523
|
|
NM_001110792.2(MECP2):c.1147C>T (p.His383Tyr)
|
rs2148661028
|
|
NM_001110792.2(MECP2):c.818C>G (p.Pro273Arg)
|
|
|
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val)
|
rs61750249
|
|
NM_001110792.2(MECP2):c.991G>A (p.Val331Met)
|
rs1569548388
|
|
NM_001134673.4(NFIA):c.186T>G (p.Ser62Arg)
|
|
|
NM_001134673.4(NFIA):c.293A>G (p.Lys98Arg)
|
|
|
NM_001134673.4(NFIA):c.310G>T (p.Val104Phe)
|
|
|
NM_001134673.4(NFIA):c.467G>C (p.Cys156Ser)
|
|
|
NM_001134673.4(NFIA):c.504A>G (p.Ile168Met)
|
|
|
NM_001145358.2(SIN3A):c.1051C>T (p.Pro351Ser)
|
rs2073605317
|
|
NM_001145358.2(SIN3A):c.1250C>T (p.Pro417Leu)
|
|
|
NM_001145358.2(SIN3A):c.1373A>G (p.His458Arg)
|
rs768415150
|
|
NM_001145358.2(SIN3A):c.1430C>T (p.Ala477Val)
|
|
|
NM_001145358.2(SIN3A):c.2063C>T (p.Pro688Leu)
|
rs2141438345
|
|
NM_001145358.2(SIN3A):c.212C>T (p.Ser71Phe)
|
rs2073861256
|
|
NM_001145358.2(SIN3A):c.2152C>T (p.Arg718Ter)
|
rs1444395453
|
|
NM_001145358.2(SIN3A):c.2197G>C (p.Gly733Arg)
|
rs1567338837
|
|
NM_001145358.2(SIN3A):c.2310T>C (p.Gly770=)
|
|
|
NM_001145358.2(SIN3A):c.2485G>C (p.Gly829Arg)
|
rs2073227641
|
|
NM_001145358.2(SIN3A):c.2498A>T (p.Asp833Val)
|
|
|
NM_001145358.2(SIN3A):c.2842A>G (p.Lys948Glu)
|
rs2073219406
|
|
NM_001145358.2(SIN3A):c.2915G>T (p.Gly972Val)
|
|
|
NM_001145358.2(SIN3A):c.3200T>C (p.Met1067Thr)
|
|
|
NM_001145358.2(SIN3A):c.3346C>T (p.Arg1116Cys)
|
rs760200525
|
|
NM_001145358.2(SIN3A):c.3591G>A (p.Gln1197=)
|
rs2141368447
|
|
NM_001145358.2(SIN3A):c.3620A>G (p.His1207Arg)
|
|
|
NM_001145358.2(SIN3A):c.3640G>A (p.Val1214Ile)
|
rs750796375
|
|
NM_001145358.2(SIN3A):c.3653C>G (p.Thr1218Ser)
|
|
|
NM_001145358.2(SIN3A):c.619C>G (p.Gln207Glu)
|
|
|
NM_001145358.2(SIN3A):c.776A>C (p.His259Pro)
|
rs1180165033
|
|
NM_001145512.2(NFIA):c.104+5G>C
|
rs992223479
|
|
NM_001172509.2(SATB2):c.1003A>G (p.Ile335Val)
|
|
|
NM_001172509.2(SATB2):c.1007A>G (p.Asn336Ser)
|
|
|
NM_001172509.2(SATB2):c.1075G>C (p.Glu359Gln)
|
|
|
NM_001172509.2(SATB2):c.1082C>T (p.Ser361Phe)
|
|
|
NM_001172509.2(SATB2):c.108G>C (p.Gln36His)
|
|
|
NM_001172509.2(SATB2):c.1118A>G (p.Lys373Arg)
|
|
|
NM_001172509.2(SATB2):c.1127G>T (p.Ser376Ile)
|
rs1688727085
|
|
NM_001172509.2(SATB2):c.1247G>A (p.Arg416Lys)
|
rs1341868380
|
|
NM_001172509.2(SATB2):c.1252A>G (p.Met418Val)
|
rs1574510913
|
|
NM_001172509.2(SATB2):c.1276_1277inv (p.Glu426Ser)
|
|
|
NM_001172509.2(SATB2):c.1278A>C (p.Glu426Asp)
|
rs775219160
|
|
NM_001172509.2(SATB2):c.1279G>T (p.Val427Leu)
|
rs1306994967
|
|
NM_001172509.2(SATB2):c.1280T>C (p.Val427Ala)
|
rs2105795391
|
|
NM_001172509.2(SATB2):c.1291C>T (p.Arg431Cys)
|
|
|
NM_001172509.2(SATB2):c.1321A>G (p.Met441Val)
|
|
|
NM_001172509.2(SATB2):c.1328C>T (p.Pro443Leu)
|
|
|
NM_001172509.2(SATB2):c.1349C>T (p.Ser450Leu)
|
|
|
NM_001172509.2(SATB2):c.1391A>G (p.Lys464Arg)
|
|
|
NM_001172509.2(SATB2):c.1396T>A (p.Ser466Thr)
|
rs1402503767
|
|
NM_001172509.2(SATB2):c.140C>T (p.Pro47Leu)
|
rs1692259118
|
|
NM_001172509.2(SATB2):c.1420A>G (p.Ile474Val)
|
rs765116524
|
|
NM_001172509.2(SATB2):c.1426G>T (p.Val476Leu)
|
|
|
NM_001172509.2(SATB2):c.143A>C (p.Asn48Thr)
|
|
|
NM_001172509.2(SATB2):c.147C>T (p.Gly49=)
|
|
|
NM_001172509.2(SATB2):c.1481A>T (p.Glu494Val)
|
rs1057524205
|
|
NM_001172509.2(SATB2):c.1486A>G (p.Lys496Glu)
|
|
|
NM_001172509.2(SATB2):c.14G>A (p.Ser5Asn)
|
|
|
NM_001172509.2(SATB2):c.1558C>G (p.Leu520Val)
|
|
|
NM_001172509.2(SATB2):c.158A>G (p.Lys53Arg)
|
|
|
NM_001172509.2(SATB2):c.1594C>T (p.Arg532Cys)
|
rs2105769188
|
|
NM_001172509.2(SATB2):c.1595G>A (p.Arg532His)
|
rs1574492405
|
|
NM_001172509.2(SATB2):c.15C>G (p.Ser5Arg)
|
|
|
NM_001172509.2(SATB2):c.1625G>A (p.Arg542His)
|
rs2105769137
|
|
NM_001172509.2(SATB2):c.1628G>A (p.Arg543His)
|
|
|
NM_001172509.2(SATB2):c.1634T>C (p.Leu545Pro)
|
|
|
NM_001172509.2(SATB2):c.1639C>T (p.Leu547Phe)
|
|
|
NM_001172509.2(SATB2):c.1642C>T (p.Pro548Ser)
|
|
|
NM_001172509.2(SATB2):c.164T>C (p.Val55Ala)
|
|
|
NM_001172509.2(SATB2):c.1681A>G (p.Arg561Gly)
|
|
|
NM_001172509.2(SATB2):c.1702A>T (p.Met568Leu)
|
|
|
NM_001172509.2(SATB2):c.1726C>A (p.Pro576Thr)
|
|
|
NM_001172509.2(SATB2):c.1726C>G (p.Pro576Ala)
|
|
|
NM_001172509.2(SATB2):c.1735G>T (p.Val579Leu)
|
|
|
NM_001172509.2(SATB2):c.1741G>A (p.Val581Ile)
|
|
|
NM_001172509.2(SATB2):c.1751G>A (p.Arg584Lys)
|
rs2105707604
|
|
NM_001172509.2(SATB2):c.1754A>G (p.Gln585Arg)
|
rs1692196085
|
|
NM_001172509.2(SATB2):c.1774G>A (p.Glu592Lys)
|
rs2105707521
|
|
NM_001172509.2(SATB2):c.1795G>A (p.Glu599Lys)
|
|
|
NM_001172509.2(SATB2):c.1808C>T (p.Pro603Leu)
|
|
|
NM_001172509.2(SATB2):c.1843C>A (p.Pro615Thr)
|
|
|
NM_001172509.2(SATB2):c.1852C>T (p.Arg618Cys)
|
rs2105707260
|
|
NM_001172509.2(SATB2):c.1865C>T (p.Ser622Phe)
|
|
|
NM_001172509.2(SATB2):c.1918C>T (p.Pro640Ser)
|
|
|
NM_001172509.2(SATB2):c.1940C>A (p.Thr647Asn)
|
|
|
NM_001172509.2(SATB2):c.2000G>T (p.Arg667Leu)
|
rs1559136030
|
|
NM_001172509.2(SATB2):c.2015A>G (p.His672Arg)
|
|
|
NM_001172509.2(SATB2):c.2020G>A (p.Gly674Arg)
|
|
|
NM_001172509.2(SATB2):c.2024A>C (p.Lys675Thr)
|
|
|
NM_001172509.2(SATB2):c.2026C>A (p.Leu676Met)
|
|
|
NM_001172509.2(SATB2):c.202C>G (p.Gln68Glu)
|
|
|
NM_001172509.2(SATB2):c.2038C>G (p.Leu680Val)
|
|
|
NM_001172509.2(SATB2):c.2074G>A (p.Glu692Lys)
|
rs1559135904
|
|
NM_001172509.2(SATB2):c.2089G>A (p.Glu697Lys)
|
|
|
NM_001172509.2(SATB2):c.2104G>A (p.Asp702Asn)
|
|
|
NM_001172509.2(SATB2):c.2119T>C (p.Ser707Pro)
|
|
|
NM_001172509.2(SATB2):c.2125G>A (p.Glu709Lys)
|
rs1574458712
|
|
NM_001172509.2(SATB2):c.2126A>G (p.Glu709Gly)
|
rs2105706602
|
|
NM_001172509.2(SATB2):c.2130G>C (p.Met710Ile)
|
rs1286415699
|
|
NM_001172509.2(SATB2):c.214T>C (p.Ser72Pro)
|
|
|
NM_001172509.2(SATB2):c.2158G>A (p.Ala720Thr)
|
rs531933724
|
|
NM_001172509.2(SATB2):c.215C>G (p.Ser72Cys)
|
|
|
NM_001172509.2(SATB2):c.2164A>C (p.Lys722Gln)
|
rs2105706499
|
|
NM_001172509.2(SATB2):c.2167del (p.Ser723fs)
|
|
|
NM_001172509.2(SATB2):c.2174C>T (p.Ala725Val)
|
rs767329844
|
|
NM_001172509.2(SATB2):c.2185G>A (p.Glu729Lys)
|
rs1489038642
|
|
NM_001172509.2(SATB2):c.2189T>C (p.Ile730Thr)
|
rs373319001
|
|
NM_001172509.2(SATB2):c.244G>T (p.Ala82Ser)
|
|
|
NM_001172509.2(SATB2):c.263G>A (p.Arg88Gln)
|
rs530118484
|
|
NM_001172509.2(SATB2):c.266A>G (p.Lys89Arg)
|
|
|
NM_001172509.2(SATB2):c.332C>T (p.Ala111Val)
|
|
|
NM_001172509.2(SATB2):c.343C>G (p.Gln115Glu)
|
rs1559052032
|
|
NM_001172509.2(SATB2):c.365G>C (p.Arg122Thr)
|
rs1182083147
|
|
NM_001172509.2(SATB2):c.376C>T (p.Leu126Phe)
|
rs1574568704
|
|
NM_001172509.2(SATB2):c.424A>G (p.Met142Val)
|
rs751779659
|
|
NM_001172509.2(SATB2):c.426G>A (p.Met142Ile)
|
rs764205432
|
|
NM_001172509.2(SATB2):c.452C>T (p.Thr151Met)
|
|
|
NM_001172509.2(SATB2):c.47G>C (p.Arg16Pro)
|
|
|
NM_001172509.2(SATB2):c.526C>T (p.Arg176Cys)
|
|
|
NM_001172509.2(SATB2):c.555G>T (p.Glu185Asp)
|
|
|
NM_001172509.2(SATB2):c.634G>T (p.Ala212Ser)
|
|
|
NM_001172509.2(SATB2):c.674G>A (p.Trp225Ter)
|
rs1553493553
|
|
NM_001172509.2(SATB2):c.67G>C (p.Val23Leu)
|
|
|
NM_001172509.2(SATB2):c.67G>T (p.Val23Phe)
|
|
|
NM_001172509.2(SATB2):c.700+17G>A
|
rs1689356095
|
|
NM_001172509.2(SATB2):c.700+5290A>G
|
rs2105843329
|
|
NM_001172509.2(SATB2):c.700+6del
|
rs1574554422
|
|
NM_001172509.2(SATB2):c.701-12A>T
|
rs116585116
|
|
NM_001172509.2(SATB2):c.723C>A (p.Asn241Lys)
|
rs752232729
|
|
NM_001172509.2(SATB2):c.734A>G (p.Tyr245Cys)
|
|
|
NM_001172509.2(SATB2):c.770A>G (p.Asn257Ser)
|
rs2105823534
|
|
NM_001172509.2(SATB2):c.773T>C (p.Met258Thr)
|
|
|
NM_001172509.2(SATB2):c.779A>C (p.Gln260Pro)
|
|
|
NM_001172509.2(SATB2):c.803A>G (p.Asn268Ser)
|
rs375141410
|
|
NM_001172509.2(SATB2):c.806A>C (p.Glu269Ala)
|
|
|
NM_001172509.2(SATB2):c.829C>G (p.His277Asp)
|
|
|
NM_001172509.2(SATB2):c.841C>G (p.Pro281Ala)
|
rs752392251
|
|
NM_001172509.2(SATB2):c.848G>A (p.Arg283Gln)
|
|
|
NM_001172509.2(SATB2):c.859C>T (p.Pro287Ser)
|
rs768080548
|
|
NM_001172509.2(SATB2):c.874A>C (p.Ile292Leu)
|
|
|
NM_001172509.2(SATB2):c.879G>A (p.Met293Ile)
|
|
|
NM_001172509.2(SATB2):c.881G>A (p.Ser294Asn)
|
|
|
NM_001172509.2(SATB2):c.889C>T (p.Leu297Phe)
|
rs759677622
|
|
NM_001172509.2(SATB2):c.88A>G (p.Lys30Glu)
|
rs1574645369
|
|
NM_001172509.2(SATB2):c.8G>C (p.Arg3Pro)
|
|
|
NM_001172509.2(SATB2):c.911C>T (p.Pro304Leu)
|
rs2105823252
|
|
NM_001172509.2(SATB2):c.917T>A (p.Leu306His)
|
rs1688732391
|
|
NM_001172509.2(SATB2):c.927A>C (p.Gln309His)
|
|
|
NM_001172509.2(SATB2):c.967G>A (p.Val323Ile)
|
|
|
NM_001211.6(BUB1B):c.1003G>A (p.Ala335Thr)
|
rs145184714
|
|
NM_001211.6(BUB1B):c.1004C>G (p.Ala335Gly)
|
rs762332962
|
|
NM_001211.6(BUB1B):c.1030G>A (p.Val344Met)
|
|
|
NM_001211.6(BUB1B):c.1042G>A (p.Ala348Thr)
|
|
|
NM_001211.6(BUB1B):c.1042G>C (p.Ala348Pro)
|
rs777810016
|
|
NM_001211.6(BUB1B):c.1052C>T (p.Pro351Leu)
|
rs1453705308
|
|
NM_001211.6(BUB1B):c.1059-3T>C
|
|
|
NM_001211.6(BUB1B):c.1060A>G (p.Thr354Ala)
|
|
|
NM_001211.6(BUB1B):c.1069A>C (p.Lys357Gln)
|
rs1264518438
|
|
NM_001211.6(BUB1B):c.106C>T (p.Arg36Trp)
|
|
|
NM_001211.6(BUB1B):c.1079C>G (p.Pro360Arg)
|
rs1060499942
|
|
NM_001211.6(BUB1B):c.1088A>G (p.Asn363Ser)
|
|
|
NM_001211.6(BUB1B):c.1100G>A (p.Ser367Asn)
|
rs1365938809
|
|
NM_001211.6(BUB1B):c.1127_1128delinsTT (p.Gly376Val)
|
rs386783327
|
|
NM_001211.6(BUB1B):c.1139A>C (p.Gln380Pro)
|
rs990478595
|
|
NM_001211.6(BUB1B):c.114G>C (p.Met38Ile)
|
rs2140878505
|
|
NM_001211.6(BUB1B):c.1168GAG[1] (p.Glu391del)
|
rs778590557
|
|
NM_001211.6(BUB1B):c.1184A>G (p.Lys395Arg)
|
rs2037501965
|
|
NM_001211.6(BUB1B):c.1187T>C (p.Met396Thr)
|
rs923688322
|
|
NM_001211.6(BUB1B):c.1189A>T (p.Met397Leu)
|
|
|
NM_001211.6(BUB1B):c.1203G>C (p.Glu401Asp)
|
rs1595526383
|
|
NM_001211.6(BUB1B):c.1213G>T (p.Ala405Ser)
|
rs1333792633
|
|
NM_001211.6(BUB1B):c.1228T>C (p.Phe410Leu)
|
rs2140898509
|
|
NM_001211.6(BUB1B):c.1243A>G (p.Ile415Val)
|
rs2140898521
|
|
NM_001211.6(BUB1B):c.1247G>T (p.Arg416Leu)
|
rs763272400
|
|
NM_001211.6(BUB1B):c.1255G>T (p.Val419Phe)
|
rs2037503291
|
|
NM_001211.6(BUB1B):c.1259T>C (p.Phe420Ser)
|
rs2140898529
|
|
NM_001211.6(BUB1B):c.1265A>G (p.Lys422Arg)
|
|
|
NM_001211.6(BUB1B):c.1280A>G (p.Gln427Arg)
|
rs2037503673
|
|
NM_001211.6(BUB1B):c.128G>A (p.Gly43Glu)
|
|
|
NM_001211.6(BUB1B):c.1310A>G (p.Glu437Gly)
|
|
|
NM_001211.6(BUB1B):c.1346T>C (p.Met449Thr)
|
|
|
NM_001211.6(BUB1B):c.1351A>G (p.Lys451Glu)
|
rs1566824564
|
|
NM_001211.6(BUB1B):c.136G>A (p.Ala46Thr)
|
rs750858057
|
|
NM_001211.6(BUB1B):c.1373C>G (p.Thr458Ser)
|
|
|
NM_001211.6(BUB1B):c.1375A>C (p.Thr459Pro)
|
|
|
NM_001211.6(BUB1B):c.1391C>T (p.Thr464Ile)
|
rs1431082197
|
|
NM_001211.6(BUB1B):c.1393G>C (p.Gly465Arg)
|
rs948366328
|
|
NM_001211.6(BUB1B):c.1397A>C (p.Asp466Ala)
|
rs587778140
|
|
NM_001211.6(BUB1B):c.139C>A (p.Gln47Lys)
|
|
|
NM_001211.6(BUB1B):c.1400A>G (p.Gln467Arg)
|
|
|
NM_001211.6(BUB1B):c.140A>C (p.Gln47Pro)
|
|
|
NM_001211.6(BUB1B):c.1414A>C (p.Met472Leu)
|
rs2037548728
|
|
NM_001211.6(BUB1B):c.1453G>A (p.Glu485Lys)
|
rs770704003
|
|
NM_001211.6(BUB1B):c.1454A>C (p.Glu485Ala)
|
rs778632806
|
|
NM_001211.6(BUB1B):c.1492_1493delinsTA (p.Val498Tyr)
|
rs2037550680
|
|
NM_001211.6(BUB1B):c.1508G>A (p.Cys503Tyr)
|
rs765632100
|
|
NM_001211.6(BUB1B):c.1512T>G (p.Cys504Trp)
|
|
|
NM_001211.6(BUB1B):c.1517G>A (p.Arg506Lys)
|
rs2140900695
|
|
NM_001211.6(BUB1B):c.1519G>A (p.Glu507Lys)
|
|
|
NM_001211.6(BUB1B):c.1538A>G (p.Asn513Ser)
|
|
|
NM_001211.6(BUB1B):c.1542T>G (p.Ile514Met)
|
|
|
NM_001211.6(BUB1B):c.1546C>G (p.Gln516Glu)
|
rs1384516309
|
|
NM_001211.6(BUB1B):c.1568-15TC[2]
|
|
|
NM_001211.6(BUB1B):c.1568-3T>C
|
rs1326404435
|
|
NM_001211.6(BUB1B):c.1568-8_1568-5del
|
rs751787026
|
|
NM_001211.6(BUB1B):c.1568G>T (p.Gly523Val)
|
|
|
NM_001211.6(BUB1B):c.1590T>G (p.Ile530Met)
|
|
|
NM_001211.6(BUB1B):c.1602T>G (p.Phe534Leu)
|
|
|
NM_001211.6(BUB1B):c.1617GAA[1] (p.Lys540del)
|
rs587778141
|
|
NM_001211.6(BUB1B):c.1624A>G (p.Lys542Glu)
|
rs1446416934
|
|
NM_001211.6(BUB1B):c.1637C>T (p.Ala546Val)
|
|
|
NM_001211.6(BUB1B):c.1638A>G (p.Ala546=)
|
|
|
NM_001211.6(BUB1B):c.163C>G (p.Leu55Val)
|
rs2037081264
|
|
NM_001211.6(BUB1B):c.164T>C (p.Leu55Pro)
|
rs1221553263
|
|
NM_001211.6(BUB1B):c.1652T>G (p.Val551Gly)
|
rs2037587414
|
|
NM_001211.6(BUB1B):c.1664G>C (p.Arg555Pro)
|
|
|
NM_001211.6(BUB1B):c.1670C>G (p.Pro557Arg)
|
rs943659464
|
|
NM_001211.6(BUB1B):c.1678G>A (p.Val560Ile)
|
rs1221831901
|
|
NM_001211.6(BUB1B):c.1682T>C (p.Leu561Pro)
|
|
|
NM_001211.6(BUB1B):c.1685A>G (p.Lys562Arg)
|
rs1289685422
|
|
NM_001211.6(BUB1B):c.1688C>A (p.Thr563Asn)
|
|
|
NM_001211.6(BUB1B):c.1690T>A (p.Ser564Thr)
|
rs2037588264
|
|
NM_001211.6(BUB1B):c.1693G>A (p.Glu565Lys)
|
|
|
NM_001211.6(BUB1B):c.1693G>C (p.Glu565Gln)
|
rs893593630
|
|
NM_001211.6(BUB1B):c.171G>C (p.Gln57His)
|
|
|
NM_001211.6(BUB1B):c.172C>A (p.Gln58Lys)
|
rs1308870659
|
|
NM_001211.6(BUB1B):c.1734T>G (p.Cys578Trp)
|
rs2037589344
|
|
NM_001211.6(BUB1B):c.1757C>G (p.Pro586Arg)
|
|
|
NM_001211.6(BUB1B):c.1760T>G (p.Leu587Trp)
|
|
|
NM_001211.6(BUB1B):c.1763G>A (p.Ser588Asn)
|
|
|
NM_001211.6(BUB1B):c.1765G>A (p.Glu589Lys)
|
rs1295030829
|
|
NM_001211.6(BUB1B):c.1774A>G (p.Ile592Val)
|
|
|
NM_001211.6(BUB1B):c.1783G>A (p.Gly595Ser)
|
|
|
NM_001211.6(BUB1B):c.178C>G (p.Arg60Gly)
|
rs748915007
|
|
NM_001211.6(BUB1B):c.1792A>T (p.Asn598Tyr)
|
|
|
NM_001211.6(BUB1B):c.179G>A (p.Arg60Gln)
|
|
|
NM_001211.6(BUB1B):c.180-3C>G
|
|
|
NM_001211.6(BUB1B):c.1801A>G (p.Ile601Val)
|
rs1425763171
|
|
NM_001211.6(BUB1B):c.1846C>T (p.Arg616Cys)
|
rs1429608588
|
|
NM_001211.6(BUB1B):c.1847G>C (p.Arg616Pro)
|
rs556193159
|
|
NM_001211.6(BUB1B):c.184T>C (p.Phe62Leu)
|
|
|
NM_001211.6(BUB1B):c.1873A>G (p.Ile625Val)
|
rs1431396417
|
|
NM_001211.6(BUB1B):c.1877T>C (p.Met626Thr)
|
rs1359983479
|
|
NM_001211.6(BUB1B):c.1879T>C (p.Ser627Pro)
|
rs587778142
|
|
NM_001211.6(BUB1B):c.1897T>A (p.Ser633Thr)
|
rs765505645
|
|
NM_001211.6(BUB1B):c.1910G>A (p.Arg637Lys)
|
rs2140904085
|
|
NM_001211.6(BUB1B):c.1955A>G (p.Gln652Arg)
|
rs1158333848
|
|
NM_001211.6(BUB1B):c.1982G>A (p.Ser661Asn)
|
rs746933398
|
|
NM_001211.6(BUB1B):c.1982G>C (p.Ser661Thr)
|
rs746933398
|
|
NM_001211.6(BUB1B):c.1983_1994del (p.Gln662_Ser665del)
|
|
|
NM_001211.6(BUB1B):c.1985A>G (p.Gln662Arg)
|
rs2037638055
|
|
NM_001211.6(BUB1B):c.1988C>T (p.Thr663Ile)
|
rs2037638096
|
|
NM_001211.6(BUB1B):c.19G>A (p.Glu7Lys)
|
rs1218056057
|
|
NM_001211.6(BUB1B):c.2029C>T (p.Arg677Cys)
|
|
|
NM_001211.6(BUB1B):c.2042A>C (p.His681Pro)
|
rs761234125
|
|
NM_001211.6(BUB1B):c.2045C>T (p.Ser682Phe)
|
|
|
NM_001211.6(BUB1B):c.2062T>A (p.Ser688Thr)
|
rs2037668271
|
|
NM_001211.6(BUB1B):c.2099G>A (p.Cys700Tyr)
|
|
|
NM_001211.6(BUB1B):c.209C>T (p.Thr70Ile)
|
rs769980774
|
|
NM_001211.6(BUB1B):c.2111C>T (p.Pro704Leu)
|
rs1225413973
|
|
NM_001211.6(BUB1B):c.211G>A (p.Gly71Arg)
|
rs2037144496
|
|
NM_001211.6(BUB1B):c.2122G>C (p.Glu708Gln)
|
|
|
NM_001211.6(BUB1B):c.2123A>G (p.Glu708Gly)
|
|
|
NM_001211.6(BUB1B):c.2137A>C (p.Thr713Pro)
|
rs2140905623
|
|
NM_001211.6(BUB1B):c.2140T>G (p.Ser714Ala)
|
|
|
NM_001211.6(BUB1B):c.2142A>G (p.Ser714=)
|
rs778939108
|
|
NM_001211.6(BUB1B):c.2143+15_2143+16delinsTT
|
|
|
NM_001211.6(BUB1B):c.2143+4G>C
|
|
|
NM_001211.6(BUB1B):c.2143G>A (p.Glu715Lys)
|
rs2037670357
|
|
NM_001211.6(BUB1B):c.2144-2dup
|
|
|
NM_001211.6(BUB1B):c.2144-4_2144-3del
|
|
|
NM_001211.6(BUB1B):c.2144-5G>A
|
rs2037684260
|
|
NM_001211.6(BUB1B):c.2156A>T (p.Gln719Leu)
|
|
|
NM_001211.6(BUB1B):c.2174A>C (p.Gln725Pro)
|
rs2140906180
|
|
NM_001211.6(BUB1B):c.2175G>A (p.Gln725=)
|
|
|
NM_001211.6(BUB1B):c.2179C>T (p.Arg727Cys)
|
rs577591919
|
|
NM_001211.6(BUB1B):c.218A>G (p.Asp73Gly)
|
rs2140881461
|
|
NM_001211.6(BUB1B):c.2192T>G (p.Leu731Arg)
|
|
|
NM_001211.6(BUB1B):c.21A>C (p.Glu7Asp)
|
rs1819687564
|
|
NM_001211.6(BUB1B):c.2231G>A (p.Cys744Tyr)
|
|
|
NM_001211.6(BUB1B):c.2264T>C (p.Ile755Thr)
|
|
|
NM_001211.6(BUB1B):c.2275A>G (p.Ile759Val)
|
|
|
NM_001211.6(BUB1B):c.2285-3C>A
|
rs2037692138
|
|
NM_001211.6(BUB1B):c.2285-3C>T
|
rs2037692138
|
|
NM_001211.6(BUB1B):c.2285-4A>G
|
rs1555383523
|
|
NM_001211.6(BUB1B):c.2294A>G (p.Asp765Gly)
|
rs765119108
|
|
NM_001211.6(BUB1B):c.2299T>C (p.Cys767Arg)
|
rs1429881927
|
|
NM_001211.6(BUB1B):c.22G>T (p.Gly8Trp)
|
|
|
NM_001211.6(BUB1B):c.2323T>C (p.Cys775Arg)
|
rs1025942169
|
|
NM_001211.6(BUB1B):c.2328A>C (p.Glu776Asp)
|
rs2140906494
|
|
NM_001211.6(BUB1B):c.2347G>A (p.Val783Met)
|
rs1338798216
|
|
NM_001211.6(BUB1B):c.2385+6A>C
|
rs1432486988
|
|
NM_001211.6(BUB1B):c.2385G>A (p.Lys795=)
|
|
|
NM_001211.6(BUB1B):c.2385G>C (p.Lys795Asn)
|
rs1427050449
|
|
NM_001211.6(BUB1B):c.23G>C (p.Gly8Ala)
|
rs554782320
|
|
NM_001211.6(BUB1B):c.2402T>C (p.Val801Ala)
|
|
|
NM_001211.6(BUB1B):c.2405C>T (p.Pro802Leu)
|
rs878854277
|
|
NM_001211.6(BUB1B):c.240G>C (p.Arg80Ser)
|
|
|
NM_001211.6(BUB1B):c.2414T>C (p.Phe805Ser)
|
rs1060499948
|
|
NM_001211.6(BUB1B):c.2415T>G (p.Phe805Leu)
|
|
|
NM_001211.6(BUB1B):c.2419A>G (p.Ile807Val)
|
|
|
NM_001211.6(BUB1B):c.2425C>G (p.Leu809Val)
|
|
|
NM_001211.6(BUB1B):c.2430G>C (p.Lys810Asn)
|
|
|
NM_001211.6(BUB1B):c.2432T>C (p.Leu811Ser)
|
rs975163412
|
|
NM_001211.6(BUB1B):c.2437G>C (p.Glu813Gln)
|
|
|
NM_001211.6(BUB1B):c.2440C>G (p.Arg814Gly)
|
rs769288048
|
|
NM_001211.6(BUB1B):c.2447A>G (p.Asn816Ser)
|
|
|
NM_001211.6(BUB1B):c.2447A>T (p.Asn816Ile)
|
|
|
NM_001211.6(BUB1B):c.244A>G (p.Ile82Val)
|
rs2140881732
|
|
NM_001211.6(BUB1B):c.2450A>G (p.Glu817Gly)
|
rs772750245
|
|
NM_001211.6(BUB1B):c.2463T>A (p.His821Gln)
|
|
|
NM_001211.6(BUB1B):c.247A>C (p.Ser83Arg)
|
rs147832586
|
|
NM_001211.6(BUB1B):c.2509C>A (p.Gln837Lys)
|
rs2140907776
|
|
NM_001211.6(BUB1B):c.2511A>T (p.Gln837His)
|
|
|
NM_001211.6(BUB1B):c.2513A>G (p.Tyr838Cys)
|
rs753916523
|
|
NM_001211.6(BUB1B):c.2528C>T (p.Thr843Ile)
|
|
|
NM_001211.6(BUB1B):c.2534A>G (p.Gln845Arg)
|
rs758774329
|
|
NM_001211.6(BUB1B):c.2536-8A>G
|
rs750936919
|
|
NM_001211.6(BUB1B):c.2549A>G (p.His850Arg)
|
|
|
NM_001211.6(BUB1B):c.2563A>G (p.Thr855Ala)
|
|
|
NM_001211.6(BUB1B):c.256G>A (p.Glu86Lys)
|
rs2037149727
|
|
NM_001211.6(BUB1B):c.2582T>G (p.Leu861Trp)
|
rs1566828619
|
|
NM_001211.6(BUB1B):c.2605A>G (p.Ile869Val)
|
rs1595535434
|
|
NM_001211.6(BUB1B):c.2612A>T (p.Glu871Val)
|
|
|
NM_001211.6(BUB1B):c.2626G>A (p.Ala876Thr)
|
|
|
NM_001211.6(BUB1B):c.2648T>C (p.Leu883Ser)
|
rs2140908215
|
|
NM_001211.6(BUB1B):c.2652T>A (p.Ser884Arg)
|
|
|
NM_001211.6(BUB1B):c.2656A>G (p.Arg886Gly)
|
rs1342870693
|
|
NM_001211.6(BUB1B):c.2658G>T (p.Arg886Ser)
|
rs146821149
|
|
NM_001211.6(BUB1B):c.2669T>G (p.Leu890Arg)
|
|
|
NM_001211.6(BUB1B):c.2678+15T>G
|
rs1363805902
|
|
NM_001211.6(BUB1B):c.2679A>G (p.Arg893=)
|
rs2140911352
|
|
NM_001211.6(BUB1B):c.2681T>A (p.Ile894Asn)
|
|
|
NM_001211.6(BUB1B):c.26G>A (p.Gly9Asp)
|
|
|
NM_001211.6(BUB1B):c.26G>C (p.Gly9Ala)
|
rs768279736
|
|
NM_001211.6(BUB1B):c.26G>T (p.Gly9Val)
|
rs768279736
|
|
NM_001211.6(BUB1B):c.2706G>C (p.Lys902Asn)
|
|
|
NM_001211.6(BUB1B):c.2708A>G (p.Asn903Ser)
|
|
|
NM_001211.6(BUB1B):c.2729T>A (p.Val910Glu)
|
rs747000103
|
|
NM_001211.6(BUB1B):c.2737T>G (p.Ser913Ala)
|
|
|
NM_001211.6(BUB1B):c.273A>T (p.Gln91His)
|
rs751056896
|
|
NM_001211.6(BUB1B):c.2745T>A (p.Ser915Arg)
|
rs2037812878
|
|
NM_001211.6(BUB1B):c.2752C>T (p.Leu918Phe)
|
rs145639700
|
|
NM_001211.6(BUB1B):c.275G>C (p.Gly92Ala)
|
rs1595511034
|
|
NM_001211.6(BUB1B):c.2791C>T (p.Arg931Trp)
|
rs766052877
|
|
NM_001211.6(BUB1B):c.2792G>C (p.Arg931Pro)
|
rs751509832
|
|
NM_001211.6(BUB1B):c.2804T>C (p.Ile935Thr)
|
|
|
NM_001211.6(BUB1B):c.2807T>C (p.Leu936Pro)
|
rs964545269
|
|
NM_001211.6(BUB1B):c.2816A>C (p.Gln939Pro)
|
|
|
NM_001211.6(BUB1B):c.2820G>C (p.Lys940Asn)
|
|
|
NM_001211.6(BUB1B):c.2820G>T (p.Lys940Asn)
|
|
|
NM_001211.6(BUB1B):c.2827G>A (p.Ala943Thr)
|
|
|
NM_001211.6(BUB1B):c.2828C>G (p.Ala943Gly)
|
|
|
NM_001211.6(BUB1B):c.2828C>T (p.Ala943Val)
|
|
|
NM_001211.6(BUB1B):c.2834G>A (p.Cys945Tyr)
|
rs974385539
|
|
NM_001211.6(BUB1B):c.2851-5T>C
|
|
|
NM_001211.6(BUB1B):c.2854G>C (p.Asp952His)
|
rs2140912289
|
|
NM_001211.6(BUB1B):c.286A>G (p.Ser96Gly)
|
rs998599773
|
|
NM_001211.6(BUB1B):c.2870C>G (p.Ala957Gly)
|
|
|
NM_001211.6(BUB1B):c.2885T>C (p.Leu962Ser)
|
|
|
NM_001211.6(BUB1B):c.2897A>G (p.Lys966Arg)
|
rs2037833828
|
|
NM_001211.6(BUB1B):c.289A>G (p.Asn97Asp)
|
|
|
NM_001211.6(BUB1B):c.2901A>T (p.Glu967Asp)
|
rs762290287
|
|
NM_001211.6(BUB1B):c.2902C>T (p.His968Tyr)
|
|
|
NM_001211.6(BUB1B):c.2904C>A (p.His968Gln)
|
rs1284860869
|
|
NM_001211.6(BUB1B):c.2921A>C (p.Asp974Ala)
|
|
|
NM_001211.6(BUB1B):c.2933G>A (p.Trp978Ter)
|
rs1191638586
|
|
NM_001211.6(BUB1B):c.293T>A (p.Met98Lys)
|
rs1446063325
|
|
NM_001211.6(BUB1B):c.2957+1G>A
|
rs1595540180
|
|
NM_001211.6(BUB1B):c.2957+5G>A
|
|
|
NM_001211.6(BUB1B):c.2962A>G (p.Lys988Glu)
|
rs2140914660
|
|
NM_001211.6(BUB1B):c.299C>T (p.Thr100Met)
|
|
|
NM_001211.6(BUB1B):c.29C>T (p.Ala10Val)
|
|
|
NM_001211.6(BUB1B):c.2dup (p.Met1fs)
|
rs2037039121
|
|
NM_001211.6(BUB1B):c.3013G>C (p.Asp1005His)
|
|
|
NM_001211.6(BUB1B):c.3015T>G (p.Asp1005Glu)
|
|
|
NM_001211.6(BUB1B):c.3029C>G (p.Ser1010Cys)
|
|
|
NM_001211.6(BUB1B):c.3055A>G (p.Met1019Val)
|
rs1566831785
|
|
NM_001211.6(BUB1B):c.3062G>C (p.Gly1021Ala)
|
|
|
NM_001211.6(BUB1B):c.3067T>G (p.Phe1023Val)
|
rs1566831798
|
|
NM_001211.6(BUB1B):c.3074C>A (p.Thr1025Asn)
|
rs770219125
|
|
NM_001211.6(BUB1B):c.3084A>G (p.Gln1028=)
|
rs1566831810
|
|
NM_001211.6(BUB1B):c.3105A>C (p.Leu1035Phe)
|
rs576684184
|
|
NM_001211.6(BUB1B):c.3107G>T (p.Trp1036Leu)
|
|
|
NM_001211.6(BUB1B):c.310A>G (p.Arg104Gly)
|
rs2037150605
|
|
NM_001211.6(BUB1B):c.3124A>G (p.Thr1042Ala)
|
rs761776038
|
|
NM_001211.6(BUB1B):c.3133G>C (p.Gly1045Arg)
|
rs2140914939
|
|
NM_001211.6(BUB1B):c.3149A>G (p.Gln1050Arg)
|
|
|
NM_001211.6(BUB1B):c.32T>G (p.Leu11Arg)
|
|
|
NM_001211.6(BUB1B):c.339A>C (p.Lys113Asn)
|
|
|
NM_001211.6(BUB1B):c.35+4G>A
|
rs769117219
|
|
NM_001211.6(BUB1B):c.35+4G>T
|
|
|
NM_001211.6(BUB1B):c.375G>C (p.Trp125Cys)
|
|
|
NM_001211.6(BUB1B):c.384+6T>A
|
rs2140881867
|
|
NM_001211.6(BUB1B):c.384+6T>C
|
|
|
NM_001211.6(BUB1B):c.385-10T>G
|
rs2037224613
|
|
NM_001211.6(BUB1B):c.391T>G (p.Leu131Val)
|
rs946027171
|
|
NM_001211.6(BUB1B):c.408G>A (p.Leu136=)
|
|
|
NM_001211.6(BUB1B):c.414G>A (p.Met138Ile)
|
|
|
NM_001211.6(BUB1B):c.418A>C (p.Ser140Arg)
|
rs2037225300
|
|
NM_001211.6(BUB1B):c.451C>G (p.Leu151Val)
|
rs2140885458
|
|
NM_001211.6(BUB1B):c.451C>T (p.Leu151Phe)
|
rs2140885458
|
|
NM_001211.6(BUB1B):c.458A>G (p.Gln153Arg)
|
rs776363221
|
|
NM_001211.6(BUB1B):c.458A>T (p.Gln153Leu)
|
rs776363221
|
|
NM_001211.6(BUB1B):c.45G>C (p.Met15Ile)
|
|
|
NM_001211.6(BUB1B):c.466A>G (p.Ile156Val)
|
rs546538543
|
|
NM_001211.6(BUB1B):c.470C>T (p.Ser157Leu)
|
rs2140885475
|
|
NM_001211.6(BUB1B):c.47C>T (p.Ser16Phe)
|
rs1364339094
|
|
NM_001211.6(BUB1B):c.483A>T (p.Glu161Asp)
|
rs758667204
|
|
NM_001211.6(BUB1B):c.485A>G (p.Tyr162Cys)
|
rs1555381180
|
|
NM_001211.6(BUB1B):c.505A>G (p.Arg169Gly)
|
rs2037226561
|
|
NM_001211.6(BUB1B):c.508A>G (p.Lys170Glu)
|
rs532319590
|
|
NM_001211.6(BUB1B):c.511G>C (p.Ala171Pro)
|
rs2037226711
|
|
NM_001211.6(BUB1B):c.518C>T (p.Ala173Val)
|
rs552380700
|
|
NM_001211.6(BUB1B):c.545_546delinsCA (p.Lys182Thr)
|
|
|
NM_001211.6(BUB1B):c.547G>A (p.Ala183Thr)
|
rs1442788795
|
|
NM_001211.6(BUB1B):c.547G>C (p.Ala183Pro)
|
rs1442788795
|
|
NM_001211.6(BUB1B):c.54G>C (p.Glu18Asp)
|
rs777141944
|
|
NM_001211.6(BUB1B):c.550G>A (p.Glu184Lys)
|
rs145028054
|
|
NM_001211.6(BUB1B):c.582-3T>C
|
rs2037323557
|
|
NM_001211.6(BUB1B):c.583C>G (p.Gln195Glu)
|
|
|
NM_001211.6(BUB1B):c.596G>C (p.Arg199Pro)
|
rs779260067
|
|
NM_001211.6(BUB1B):c.596G>T (p.Arg199Leu)
|
|
|
NM_001211.6(BUB1B):c.630AGA[2] (p.Glu215del)
|
rs751339245
|
|
NM_001211.6(BUB1B):c.631G>C (p.Glu211Gln)
|
rs1566819827
|
|
NM_001211.6(BUB1B):c.636A>C (p.Glu212Asp)
|
rs769213287
|
|
NM_001211.6(BUB1B):c.639GGA[1] (p.Glu215del)
|
|
|
NM_001211.6(BUB1B):c.647T>G (p.Val216Gly)
|
rs1203645365
|
|
NM_001211.6(BUB1B):c.650T>A (p.Phe217Tyr)
|
rs2140889790
|
|
NM_001211.6(BUB1B):c.665_667del (p.Pro222del)
|
rs767511302
|
|
NM_001211.6(BUB1B):c.698A>G (p.Lys233Arg)
|
rs960109358
|
|
NM_001211.6(BUB1B):c.699A>C (p.Lys233Asn)
|
rs2140889861
|
|
NM_001211.6(BUB1B):c.737G>A (p.Gly246Glu)
|
rs1407334063
|
|
NM_001211.6(BUB1B):c.74G>A (p.Ser25Asn)
|
|
|
NM_001211.6(BUB1B):c.750G>A (p.Lys250=)
|
rs1440328650
|
|
NM_001211.6(BUB1B):c.750G>C (p.Lys250Asn)
|
rs1440328650
|
|
NM_001211.6(BUB1B):c.797T>G (p.Met266Arg)
|
rs745796231
|
|
NM_001211.6(BUB1B):c.812G>A (p.Arg271Lys)
|
|
|
NM_001211.6(BUB1B):c.820G>A (p.Val274Ile)
|
rs2037344658
|
|
NM_001211.6(BUB1B):c.838G>C (p.Asp280His)
|
rs2037344931
|
|
NM_001211.6(BUB1B):c.839A>T (p.Asp280Val)
|
rs2037344963
|
|
NM_001211.6(BUB1B):c.850A>G (p.Thr284Ala)
|
rs1369362790
|
|
NM_001211.6(BUB1B):c.854C>A (p.Ala285Glu)
|
|
|
NM_001211.6(BUB1B):c.857A>G (p.Glu286Gly)
|
rs2037345499
|
|
NM_001211.6(BUB1B):c.862T>C (p.Ser288Pro)
|
rs763386438
|
|
NM_001211.6(BUB1B):c.868C>A (p.Pro290Thr)
|
rs1411048840
|
|
NM_001211.6(BUB1B):c.874G>A (p.Val292Ile)
|
rs760345452
|
|
NM_001211.6(BUB1B):c.878A>G (p.Gln293Arg)
|
|
|
NM_001211.6(BUB1B):c.889G>A (p.Ala297Thr)
|
rs2140890789
|
|
NM_001211.6(BUB1B):c.911A>G (p.Lys304Arg)
|
rs2140890830
|
|
NM_001211.6(BUB1B):c.917A>G (p.Asn306Ser)
|
rs2140890832
|
|
NM_001211.6(BUB1B):c.932G>T (p.Gly311Val)
|
|
|
NM_001211.6(BUB1B):c.950G>A (p.Arg317Lys)
|
rs2140890864
|
|
NM_001211.6(BUB1B):c.966G>A (p.Arg322=)
|
rs2037347512
|
|
NM_001211.6(BUB1B):c.967-3C>T
|
|
|
NM_001211.6(BUB1B):c.970C>G (p.Arg324Gly)
|
|
|
NM_001211.6(BUB1B):c.970C>T (p.Arg324Cys)
|
|
|
NM_001211.6(BUB1B):c.980C>A (p.Thr327Lys)
|
|
|
NM_001211.6(BUB1B):c.982G>A (p.Ala328Thr)
|
rs2037350544
|
|
NM_001211.6(BUB1B):c.992T>C (p.Ile331Thr)
|
|
|
NM_001256447.2(BCAP31):c.317C>T (p.Ala106Val)
|
rs2091621117
|
|
NM_001256447.2(BCAP31):c.477+8del
|
|
|
NM_001256447.2(BCAP31):c.492C>G (p.Asp164Glu)
|
rs782648908
|
|
NM_001256447.2(BCAP31):c.709G>C (p.Val237Leu)
|
|
|
NM_001330078.2(NRXN1):c.1783C>T (p.Arg595Cys)
|
rs1156747096
|
|
NM_001330078.2(NRXN1):c.2509G>C (p.Gly837Arg)
|
rs2104921155
|
|
NM_001330078.2(NRXN1):c.2597T>C (p.Ile866Thr)
|
rs796052779
|
|
NM_001330078.2(NRXN1):c.314C>G (p.Ala105Gly)
|
|
|
NM_001330078.2(NRXN1):c.3542A>G (p.His1181Arg)
|
rs200915287
|
|
NM_001330078.2(NRXN1):c.4247C>G (p.Pro1416Arg)
|
rs199697191
|
|
NM_001330078.2(NRXN1):c.665_673dup (p.Glu222_Glu224dup)
|
rs774230140
|
|
NM_001368894.2(PAX6):c.*107G>C
|
rs886048201
|
|
NM_001368894.2(PAX6):c.*183dup
|
rs886048200
|
|
NM_001368894.2(PAX6):c.*356del
|
rs200391530
|
|
NM_001368894.2(PAX6):c.-147_-146dup
|
rs886048205
|
|
NM_001368894.2(PAX6):c.-501del
|
rs886048208
|
|
NM_001368894.2(PAX6):c.-507T>C
|
rs886048209
|
|
NM_001368894.2(PAX6):c.184-8C>T
|
rs886048203
|
|
NM_001368894.2(PAX6):c.308A>C (p.Gln103Pro)
|
rs1167005463
|
|
NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del)
|
rs747077748
|
|
NM_001368894.2(PAX6):c.589G>C (p.Gly197Arg)
|
rs886048202
|
|
NM_001372044.2(SHANK3):c.1012G>A (p.Val338Met)
|
|
|
NM_001372044.2(SHANK3):c.1040A>G (p.Tyr347Cys)
|
rs1555905749
|
|
NM_001372044.2(SHANK3):c.1124G>T (p.Arg375Leu)
|
rs2124372210
|
|
NM_001372044.2(SHANK3):c.1181C>T (p.Ala394Val)
|
rs2124372229
|
|
NM_001372044.2(SHANK3):c.1235C>G
|
rs869312715
|
|
NM_001372044.2(SHANK3):c.1530-280dup
|
rs745950788
|
|
NM_001372044.2(SHANK3):c.155G>A (p.Gly52Glu)
|
|
|
NM_001372044.2(SHANK3):c.1878C>A (p.Tyr626Ter)
|
rs2083140779
|
|
NM_001372044.2(SHANK3):c.2228C>G (p.Pro743Arg)
|
|
|
NM_001372044.2(SHANK3):c.2300+4_2300+12del
|
|
|
NM_001372044.2(SHANK3):c.2365C>T (p.Leu789=)
|
rs1447758824
|
|
NM_001372044.2(SHANK3):c.2648G>C (p.Arg883Pro)
|
rs2083272071
|
|
NM_001372044.2(SHANK3):c.2881C>T (p.Gln961Ter)
|
rs2083274586
|
|
NM_001372044.2(SHANK3):c.3014C>T (p.Pro1005Leu)
|
rs2083276245
|
|
NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser)
|
rs530255181
|
|
NM_001372044.2(SHANK3):c.319G>T (p.Val107Leu)
|
rs2082908926
|
|
NM_001372044.2(SHANK3):c.3226G>A (p.Ala1076Thr)
|
rs1555910078
|
|
NM_001372044.2(SHANK3):c.3597C>G (p.Pro1199=)
|
|
|
NM_001372044.2(SHANK3):c.3689C>G (p.Ser1230Cys)
|
|
|
NM_001372044.2(SHANK3):c.3989G>A (p.Arg1330Gln)
|
|
|
NM_001372044.2(SHANK3):c.4052A>C (p.Glu1351Ala)
|
|
|
NM_001372044.2(SHANK3):c.4108GAG[1] (p.Glu1371del)
|
rs1462066038
|
|
NM_001372044.2(SHANK3):c.4150C>T (p.Pro1384Ser)
|
rs1482351235
|
|
NM_001372044.2(SHANK3):c.415G>A (p.Ala139Thr)
|
rs2082909895
|
|
NM_001372044.2(SHANK3):c.4477C>T (p.Leu1493Phe)
|
|
|
NM_001372044.2(SHANK3):c.4613dup (p.Arg1539fs)
|
|
|
NM_001372044.2(SHANK3):c.4730A>G (p.Gln1577Arg)
|
|
|
NM_001372044.2(SHANK3):c.4889C>T (p.Pro1630Leu)
|
rs1329146990
|
|
NM_001372044.2(SHANK3):c.4904C>G (p.Ser1635Trp)
|
|
|
NM_001372044.2(SHANK3):c.5057C>G (p.Ser1686Trp)
|
rs2083359701
|
|
NM_001372044.2(SHANK3):c.5307_5310del (p.Ile1769fs)
|
rs2083362101
|
|
NM_001372044.2(SHANK3):c.542A>C (p.Gln181Pro)
|
rs1555905307
|
|
NM_001372044.2(SHANK3):c.575A>G (p.Lys192Arg)
|
|
|
NM_001372044.2(SHANK3):c.592G>A (p.Val198Ile)
|
|
|
NM_001372044.2(SHANK3):c.623G>A (p.Arg208His)
|
|
|
NM_001372044.2(SHANK3):c.781G>A (p.Ala261Thr)
|
|
|
NM_001372044.2(SHANK3):c.800G>A (p.Arg267His)
|
|
|
NM_001372044.2(SHANK3):c.938A>G (p.His313Arg)
|
|
|
NM_001372044.2(SHANK3):c.974G>T (p.Gly325Val)
|
|
|
NM_001378120.1(MBD5):c.1010C>A (p.Pro337His)
|
|
|
NM_001378120.1(MBD5):c.1016C>A (p.Pro339His)
|
|
|
NM_001378120.1(MBD5):c.1016C>T (p.Pro339Leu)
|
rs748307129
|
|
NM_001378120.1(MBD5):c.1017TCC[1] (p.Pro342del)
|
rs1388983985
|
|
NM_001378120.1(MBD5):c.1025C>A (p.Pro342His)
|
rs1406381561
|
|
NM_001378120.1(MBD5):c.103C>T (p.Leu35Phe)
|
rs1201462027
|
|
NM_001378120.1(MBD5):c.1042A>G (p.Lys348Glu)
|
|
|
NM_001378120.1(MBD5):c.1058C>G (p.Ser353Cys)
|
rs1448983984
|
|
NM_001378120.1(MBD5):c.1081C>T (p.Leu361Phe)
|
rs2105629006
|
|
NM_001378120.1(MBD5):c.1084G>A (p.Asp362Asn)
|
rs1335443686
|
|
NM_001378120.1(MBD5):c.1084G>C (p.Asp362His)
|
rs1335443686
|
|
NM_001378120.1(MBD5):c.1093C>G (p.Pro365Ala)
|
|
|
NM_001378120.1(MBD5):c.1094C>T (p.Pro365Leu)
|
rs794727974
|
|
NM_001378120.1(MBD5):c.1100A>G (p.Lys367Arg)
|
|
|
NM_001378120.1(MBD5):c.1101A>C (p.Lys367Asn)
|
|
|
NM_001378120.1(MBD5):c.1109A>G (p.Asn370Ser)
|
|
|
NM_001378120.1(MBD5):c.1115A>G (p.Asn372Ser)
|
|
|
NM_001378120.1(MBD5):c.113+5G>A
|
|
|
NM_001378120.1(MBD5):c.1138A>G (p.Ser380Gly)
|
rs1680696075
|
|
NM_001378120.1(MBD5):c.1150A>G (p.Asn384Asp)
|
|
|
NM_001378120.1(MBD5):c.1151A>G (p.Asn384Ser)
|
|
|
NM_001378120.1(MBD5):c.1163A>G (p.Gln388Arg)
|
|
|
NM_001378120.1(MBD5):c.1168C>T (p.Pro390Ser)
|
|
|
NM_001378120.1(MBD5):c.1205C>T (p.Pro402Leu)
|
|
|
NM_001378120.1(MBD5):c.1213A>G (p.Ser405Gly)
|
rs1311216238
|
|
NM_001378120.1(MBD5):c.1223C>T (p.Pro408Leu)
|
|
|
NM_001378120.1(MBD5):c.1237A>G (p.Lys413Glu)
|
|
|
NM_001378120.1(MBD5):c.1240C>A (p.Pro414Thr)
|
|
|
NM_001378120.1(MBD5):c.1249_1263del (p.Met417_Ser421del)
|
rs1559086500
|
|
NM_001378120.1(MBD5):c.1250T>C (p.Met417Thr)
|
rs1574460069
|
|
NM_001378120.1(MBD5):c.1251G>A (p.Met417Ile)
|
|
|
NM_001378120.1(MBD5):c.1251G>C (p.Met417Ile)
|
rs1559086508
|
|
NM_001378120.1(MBD5):c.1255C>T (p.His419Tyr)
|
|
|
NM_001378120.1(MBD5):c.1256A>G (p.His419Arg)
|
rs1680702734
|
|
NM_001378120.1(MBD5):c.1258G>A (p.Gly420Arg)
|
rs1352167434
|
|
NM_001378120.1(MBD5):c.1262G>A (p.Ser421Asn)
|
rs2105631080
|
|
NM_001378120.1(MBD5):c.1271A>T (p.Gln424Leu)
|
rs2105631231
|
|
NM_001378120.1(MBD5):c.1288G>T (p.Ala430Ser)
|
rs2105631326
|
|
NM_001378120.1(MBD5):c.1294A>G (p.Thr432Ala)
|
|
|
NM_001378120.1(MBD5):c.1297T>A (p.Ser433Thr)
|
rs2105631414
|
|
NM_001378120.1(MBD5):c.1318A>G (p.Thr440Ala)
|
|
|
NM_001378120.1(MBD5):c.1319C>G (p.Thr440Arg)
|
rs1247282095
|
|
NM_001378120.1(MBD5):c.1321T>C (p.Ser441Pro)
|
|
|
NM_001378120.1(MBD5):c.1327G>T (p.Val443Leu)
|
rs137977565
|
|
NM_001378120.1(MBD5):c.1336A>G (p.Met446Val)
|
|
|
NM_001378120.1(MBD5):c.133T>A (p.Ser45Thr)
|
|
|
NM_001378120.1(MBD5):c.1363G>A (p.Ala455Thr)
|
rs2105632032
|
|
NM_001378120.1(MBD5):c.1369C>T (p.Pro457Ser)
|
|
|
NM_001378120.1(MBD5):c.136T>C (p.Cys46Arg)
|
rs139186486
|
|
NM_001378120.1(MBD5):c.1379C>T (p.Ser460Leu)
|
rs878910680
|
|
NM_001378120.1(MBD5):c.1381C>T (p.Arg461Cys)
|
rs796052709
|
|
NM_001378120.1(MBD5):c.138C>T (p.Cys46=)
|
|
|
NM_001378120.1(MBD5):c.1408G>A (p.Gly470Arg)
|
|
|
NM_001378120.1(MBD5):c.1417A>G (p.Met473Val)
|
rs1064796951
|
|
NM_001378120.1(MBD5):c.1417ATG[1] (p.Met474del)
|
rs1680710056
|
|
NM_001378120.1(MBD5):c.1433G>A (p.Gly478Glu)
|
|
|
NM_001378120.1(MBD5):c.1441G>C (p.Ala481Pro)
|
|
|
NM_001378120.1(MBD5):c.1453G>A (p.Gly485Ser)
|
|
|
NM_001378120.1(MBD5):c.1457T>A (p.Ile486Asn)
|
rs1680712001
|
|
NM_001378120.1(MBD5):c.1462G>A (p.Val488Ile)
|
rs778427674
|
|
NM_001378120.1(MBD5):c.1468C>T (p.Pro490Ser)
|
|
|
NM_001378120.1(MBD5):c.1472G>C (p.Arg491Thr)
|
rs1024254683
|
|
NM_001378120.1(MBD5):c.1475C>T (p.Ser492Leu)
|
|
|
NM_001378120.1(MBD5):c.1507T>A (p.Ser503Thr)
|
|
|
NM_001378120.1(MBD5):c.1520G>A (p.Ser507Asn)
|
|
|
NM_001378120.1(MBD5):c.1528A>G (p.Thr510Ala)
|
rs762417251
|
|
NM_001378120.1(MBD5):c.1544A>G (p.His515Arg)
|
|
|
NM_001378120.1(MBD5):c.1551G>C (p.Gln517His)
|
|
|
NM_001378120.1(MBD5):c.1560T>G (p.Asp520Glu)
|
rs113472052
|
|
NM_001378120.1(MBD5):c.1570C>T (p.Pro524Ser)
|
rs727503998
|
|
NM_001378120.1(MBD5):c.1583G>A (p.Gly528Glu)
|
rs1300246516
|
|
NM_001378120.1(MBD5):c.1588A>C (p.Ser530Arg)
|
|
|
NM_001378120.1(MBD5):c.1603A>G (p.Thr535Ala)
|
|
|
NM_001378120.1(MBD5):c.1609A>G (p.Ser537Gly)
|
|
|
NM_001378120.1(MBD5):c.1627A>C (p.Thr543Pro)
|
rs1414607857
|
|
NM_001378120.1(MBD5):c.1634C>G (p.Ser545Cys)
|
rs1553518618
|
|
NM_001378120.1(MBD5):c.1637C>A (p.Ala546Asp)
|
|
|
NM_001378120.1(MBD5):c.1646G>A (p.Ser549Asn)
|
rs2105635382
|
|
NM_001378120.1(MBD5):c.1667G>A (p.Gly556Asp)
|
rs750365107
|
|
NM_001378120.1(MBD5):c.1669T>A (p.Leu557Met)
|
rs2105635656
|
|
NM_001378120.1(MBD5):c.1671G>C (p.Leu557Phe)
|
|
|
NM_001378120.1(MBD5):c.1676G>A (p.Gly559Glu)
|
|
|
NM_001378120.1(MBD5):c.1680G>T (p.Met560Ile)
|
rs1574460777
|
|
NM_001378120.1(MBD5):c.1695C>G (p.Ile565Met)
|
|
|
NM_001378120.1(MBD5):c.1697T>G (p.Leu566Trp)
|
|
|
NM_001378120.1(MBD5):c.1698G>C (p.Leu566Phe)
|
|
|
NM_001378120.1(MBD5):c.16G>C (p.Glu6Gln)
|
|
|
NM_001378120.1(MBD5):c.1702C>G (p.Gln568Glu)
|
|
|
NM_001378120.1(MBD5):c.1706A>G (p.His569Arg)
|
|
|
NM_001378120.1(MBD5):c.1718C>T (p.Ser573Phe)
|
rs540723139
|
|
NM_001378120.1(MBD5):c.1729A>G (p.Ser577Gly)
|
|
|
NM_001378120.1(MBD5):c.1732A>G (p.Ser578Gly)
|
|
|
NM_001378120.1(MBD5):c.1772A>G (p.Gln591Arg)
|
|
|
NM_001378120.1(MBD5):c.1783G>T (p.Ala595Ser)
|
rs1302791673
|
|
NM_001378120.1(MBD5):c.1811A>G (p.Asn604Ser)
|
|
|
NM_001378120.1(MBD5):c.1837A>G (p.Asn613Asp)
|
rs398124341
|
|
NM_001378120.1(MBD5):c.1842_1865del (p.Glu615_Thr622del)
|
rs780715275
|
|
NM_001378120.1(MBD5):c.1859T>C (p.Leu620Ser)
|
|
|
NM_001378120.1(MBD5):c.1862A>T (p.Asn621Ile)
|
|
|
NM_001378120.1(MBD5):c.1867A>G (p.Met623Val)
|
|
|
NM_001378120.1(MBD5):c.1868T>C (p.Met623Thr)
|
rs1036713038
|
|
NM_001378120.1(MBD5):c.1869G>A (p.Met623Ile)
|
rs1680731400
|
|
NM_001378120.1(MBD5):c.1877C>T (p.Pro626Leu)
|
|
|
NM_001378120.1(MBD5):c.1879A>G (p.Thr627Ala)
|
rs779256872
|
|
NM_001378120.1(MBD5):c.1890G>T (p.Met630Ile)
|
rs1475773218
|
|
NM_001378120.1(MBD5):c.1892T>C (p.Leu631Pro)
|
|
|
NM_001378120.1(MBD5):c.1910G>A (p.Gly637Glu)
|
|
|
NM_001378120.1(MBD5):c.1927G>T (p.Ala643Ser)
|
|
|
NM_001378120.1(MBD5):c.1961A>G (p.Asp654Gly)
|
|
|
NM_001378120.1(MBD5):c.1962C>A (p.Asp654Glu)
|
rs139953766
|
|
NM_001378120.1(MBD5):c.1963G>T (p.Ala655Ser)
|
|
|
NM_001378120.1(MBD5):c.1969C>G (p.Arg657Gly)
|
rs112334672
|
|
NM_001378120.1(MBD5):c.1975A>G (p.Arg659Gly)
|
|
|
NM_001378120.1(MBD5):c.1985C>A (p.Pro662Gln)
|
rs1280684603
|
|
NM_001378120.1(MBD5):c.1987C>A (p.Pro663Thr)
|
|
|
NM_001378120.1(MBD5):c.1987C>T (p.Pro663Ser)
|
rs1057520996
|
|
NM_001378120.1(MBD5):c.1991C>T (p.Thr664Met)
|
rs755862882
|
|
NM_001378120.1(MBD5):c.1999T>A (p.Leu667Met)
|
rs529715710
|
|
NM_001378120.1(MBD5):c.19T>C (p.Cys7Arg)
|
rs766104877
|
|
NM_001378120.1(MBD5):c.2003G>A (p.Ser668Asn)
|
|
|
NM_001378120.1(MBD5):c.2015A>G (p.Gln672Arg)
|
|
|
NM_001378120.1(MBD5):c.2025G>C (p.Met675Ile)
|
|
|
NM_001378120.1(MBD5):c.2038G>A (p.Val680Ile)
|
|
|
NM_001378120.1(MBD5):c.2038G>T (p.Val680Phe)
|
|
|
NM_001378120.1(MBD5):c.2045A>G (p.Lys682Arg)
|
|
|
NM_001378120.1(MBD5):c.2051G>A (p.Gly684Glu)
|
rs1680739908
|
|
NM_001378120.1(MBD5):c.2060T>G (p.Leu687Trp)
|
|
|
NM_001378120.1(MBD5):c.2081G>A (p.Gly694Asp)
|
|
|
NM_001378120.1(MBD5):c.2086T>C (p.Phe696Leu)
|
|
|
NM_001378120.1(MBD5):c.2087T>G (p.Phe696Cys)
|
|
|
NM_001378120.1(MBD5):c.2109G>C (p.Gln703His)
|
rs767521281
|
|
NM_001378120.1(MBD5):c.2119T>G (p.Ser707Ala)
|
rs1394309796
|
|
NM_001378120.1(MBD5):c.2120C>T (p.Ser707Phe)
|
rs2105639837
|
|
NM_001378120.1(MBD5):c.2122A>T (p.Met708Leu)
|
rs796052721
|
|
NM_001378120.1(MBD5):c.2124_2125delinsTT (p.Met708_Ser709delinsIleCys)
|
|
|
NM_001378120.1(MBD5):c.2126G>A (p.Ser709Asn)
|
|
|
NM_001378120.1(MBD5):c.2127T>G (p.Ser709Arg)
|
rs763873615
|
|
NM_001378120.1(MBD5):c.2147G>A (p.Ser716Asn)
|
|
|
NM_001378120.1(MBD5):c.2153A>G (p.Asn718Ser)
|
|
|
NM_001378120.1(MBD5):c.2164G>C (p.Gly722Arg)
|
|
|
NM_001378120.1(MBD5):c.2164G>T (p.Gly722Cys)
|
rs143584574
|
|
NM_001378120.1(MBD5):c.2168G>T (p.Cys723Phe)
|
|
|
NM_001378120.1(MBD5):c.2177C>T (p.Ser726Leu)
|
rs781532539
|
|
NM_001378120.1(MBD5):c.2200G>A (p.Ala734Thr)
|
|
|
NM_001378120.1(MBD5):c.2234A>G (p.Asn745Ser)
|
|
|
NM_001378120.1(MBD5):c.2237C>G (p.Ser746Cys)
|
rs2105641052
|
|
NM_001378120.1(MBD5):c.224A>G (p.Asn75Ser)
|
rs2105581271
|
|
NM_001378120.1(MBD5):c.2252A>G (p.Asn751Ser)
|
|
|
NM_001378120.1(MBD5):c.2278C>T (p.His760Tyr)
|
rs1060501150
|
|
NM_001378120.1(MBD5):c.2296A>G (p.Thr766Ala)
|
|
|
NM_001378120.1(MBD5):c.2297C>G (p.Thr766Ser)
|
|
|
NM_001378120.1(MBD5):c.2305G>A (p.Val769Ile)
|
|
|
NM_001378120.1(MBD5):c.2350A>G (p.Ile784Val)
|
|
|
NM_001378120.1(MBD5):c.2358G>T (p.Gln786His)
|
rs1574462092
|
|
NM_001378120.1(MBD5):c.2359A>T (p.Ile787Phe)
|
|
|
NM_001378120.1(MBD5):c.236G>T (p.Gly79Val)
|
|
|
NM_001378120.1(MBD5):c.2380G>A (p.Gly794Arg)
|
rs2105642407
|
|
NM_001378120.1(MBD5):c.2381G>T (p.Gly794Val)
|
|
|
NM_001378120.1(MBD5):c.2390G>T (p.Ser797Ile)
|
rs1187810931
|
|
NM_001378120.1(MBD5):c.2393A>G (p.Gln798Arg)
|
rs1680753685
|
|
NM_001378120.1(MBD5):c.2414A>T (p.Asn805Ile)
|
|
|
NM_001378120.1(MBD5):c.2426C>G (p.Pro809Arg)
|
rs1060501152
|
|
NM_001378120.1(MBD5):c.244G>T (p.Val82Leu)
|
|
|
NM_001378120.1(MBD5):c.2453C>G (p.Thr818Arg)
|
rs1413186409
|
|
NM_001378120.1(MBD5):c.2453C>T (p.Thr818Met)
|
|
|
NM_001378120.1(MBD5):c.2462C>T (p.Thr821Ile)
|
|
|
NM_001378120.1(MBD5):c.2465C>T (p.Pro822Leu)
|
rs2105643339
|
|
NM_001378120.1(MBD5):c.2472A>G (p.Ile824Met)
|
rs1574462288
|
|
NM_001378120.1(MBD5):c.247A>G (p.Lys83Glu)
|
rs1559083055
|
|
NM_001378120.1(MBD5):c.2482A>C (p.Ile828Leu)
|
rs2105643462
|
|
NM_001378120.1(MBD5):c.2495A>G (p.Tyr832Cys)
|
rs954814725
|
|
NM_001378120.1(MBD5):c.2518+6G>A
|
|
|
NM_001378120.1(MBD5):c.2519G>C (p.Gly840Ala)
|
rs2105071209
|
|
NM_001378120.1(MBD5):c.2523_2528del (p.Ser842_Gly843del)
|
rs1681214533
|
|
NM_001378120.1(MBD5):c.2527G>A (p.Gly843Arg)
|
|
|
NM_001378120.1(MBD5):c.2527_2529dup (p.Gly843dup)
|
rs2105071357
|
|
NM_001378120.1(MBD5):c.2528G>A (p.Gly843Glu)
|
rs2105071391
|
|
NM_001378120.1(MBD5):c.2539T>C (p.Ser847Pro)
|
rs2105071445
|
|
NM_001378120.1(MBD5):c.2546C>T (p.Ala849Val)
|
|
|
NM_001378120.1(MBD5):c.2548A>G (p.Ile850Val)
|
rs1574476665
|
|
NM_001378120.1(MBD5):c.2552C>A (p.Ala851Glu)
|
rs144557654
|
|
NM_001378120.1(MBD5):c.2565C>G (p.His855Gln)
|
rs2105071741
|
|
NM_001378120.1(MBD5):c.2581ACA[1] (p.Thr862del)
|
|
|
NM_001378120.1(MBD5):c.2585C>T (p.Thr862Ile)
|
rs1681217722
|
|
NM_001378120.1(MBD5):c.2596C>G (p.Gln866Glu)
|
|
|
NM_001378120.1(MBD5):c.259G>A (p.Ala87Thr)
|
rs755990856
|
|
NM_001378120.1(MBD5):c.25G>A (p.Gly9Arg)
|
rs143952512
|
|
NM_001378120.1(MBD5):c.25G>C (p.Gly9Arg)
|
rs143952512
|
|
NM_001378120.1(MBD5):c.2605G>T (p.Val869Phe)
|
rs116207524
|
|
NM_001378120.1(MBD5):c.2612T>C (p.Val871Ala)
|
rs753164504
|
|
NM_001378120.1(MBD5):c.2617A>G (p.Thr873Ala)
|
|
|
NM_001378120.1(MBD5):c.2632C>A (p.Pro878Thr)
|
rs752535474
|
|
NM_001378120.1(MBD5):c.2636T>G (p.Leu879Arg)
|
|
|
NM_001378120.1(MBD5):c.2642G>A (p.Ser881Asn)
|
rs1559094826
|
|
NM_001378120.1(MBD5):c.2645A>T (p.Gln882Leu)
|
rs151173122
|
|
NM_001378120.1(MBD5):c.2653A>G (p.Ile885Val)
|
rs2105072567
|
|
NM_001378120.1(MBD5):c.2686C>A (p.His896Asn)
|
|
|
NM_001378120.1(MBD5):c.268G>A (p.Val90Ile)
|
rs1329667912
|
|
NM_001378120.1(MBD5):c.2692C>T (p.Leu898Phe)
|
|
|
NM_001378120.1(MBD5):c.2720A>G (p.Asn907Ser)
|
rs2105073027
|
|
NM_001378120.1(MBD5):c.2721C>A (p.Asn907Lys)
|
|
|
NM_001378120.1(MBD5):c.2725C>T (p.His909Tyr)
|
|
|
NM_001378120.1(MBD5):c.2728C>G (p.Leu910Val)
|
|
|
NM_001378120.1(MBD5):c.2734C>T (p.His912Tyr)
|
rs1681223936
|
|
NM_001378120.1(MBD5):c.2736C>A (p.His912Gln)
|
rs756653034
|
|
NM_001378120.1(MBD5):c.2738C>T (p.Pro913Leu)
|
|
|
NM_001378120.1(MBD5):c.2750G>C (p.Ser917Thr)
|
|
|
NM_001378120.1(MBD5):c.2752C>T (p.Leu918Phe)
|
|
|
NM_001378120.1(MBD5):c.2762C>G (p.Ser921Cys)
|
|
|
NM_001378120.1(MBD5):c.2773T>A (p.Ser925Thr)
|
|
|
NM_001378120.1(MBD5):c.278A>G (p.Asp93Gly)
|
|
|
NM_001378120.1(MBD5):c.2824C>T (p.Leu942Phe)
|
|
|
NM_001378120.1(MBD5):c.2827C>G (p.Gln943Glu)
|
|
|
NM_001378120.1(MBD5):c.2830C>G (p.Pro944Ala)
|
|
|
NM_001378120.1(MBD5):c.2839G>A (p.Gly947Arg)
|
|
|
NM_001378120.1(MBD5):c.28G>A (p.Gly10Arg)
|
rs1706964102
|
|
NM_001378120.1(MBD5):c.290C>T (p.Thr97Ile)
|
rs1341554170
|
|
NM_001378120.1(MBD5):c.302T>C (p.Ile101Thr)
|
rs1559083106
|
|
NM_001378120.1(MBD5):c.308A>G (p.Lys103Arg)
|
|
|
NM_001378120.1(MBD5):c.321T>G (p.Ile107Met)
|
rs1553517962
|
|
NM_001378120.1(MBD5):c.32A>G (p.Asp11Gly)
|
|
|
NM_001378120.1(MBD5):c.337C>A (p.His113Asn)
|
|
|
NM_001378120.1(MBD5):c.337C>T (p.His113Tyr)
|
|
|
NM_001378120.1(MBD5):c.353C>A (p.Ala118Asp)
|
rs765892446
|
|
NM_001378120.1(MBD5):c.3545-3T>C
|
|
|
NM_001378120.1(MBD5):c.3547G>A (p.Asp1183Asn)
|
|
|
NM_001378120.1(MBD5):c.3551T>C (p.Met1184Thr)
|
rs1681317802
|
|
NM_001378120.1(MBD5):c.3564C>A (p.Asn1188Lys)
|
rs1559096615
|
|
NM_001378120.1(MBD5):c.3579C>A (p.Asn1193Lys)
|
|
|
NM_001378120.1(MBD5):c.3583C>A (p.Gln1195Lys)
|
rs1200329763
|
|
NM_001378120.1(MBD5):c.3590C>A (p.Thr1197Asn)
|
|
|
NM_001378120.1(MBD5):c.3590C>T (p.Thr1197Ile)
|
rs750939401
|
|
NM_001378120.1(MBD5):c.3617A>G (p.Asn1206Ser)
|
|
|
NM_001378120.1(MBD5):c.3624G>A (p.Met1208Ile)
|
|
|
NM_001378120.1(MBD5):c.3650A>G (p.Gln1217Arg)
|
rs1681321643
|
|
NM_001378120.1(MBD5):c.3650_3652del (p.Gln1217del)
|
rs2105093794
|
|
NM_001378120.1(MBD5):c.365C>T (p.Ser122Phe)
|
|
|
NM_001378120.1(MBD5):c.3677A>G (p.Gln1226Arg)
|
|
|
NM_001378120.1(MBD5):c.3679G>A (p.Ala1227Thr)
|
|
|
NM_001378120.1(MBD5):c.3685C>A (p.Gln1229Lys)
|
rs2105094167
|
|
NM_001378120.1(MBD5):c.3689G>A (p.Gly1230Glu)
|
rs1429887811
|
|
NM_001378120.1(MBD5):c.3692A>C (p.Gln1231Pro)
|
|
|
NM_001378120.1(MBD5):c.3718A>G (p.Asn1240Asp)
|
|
|
NM_001378120.1(MBD5):c.3719A>G (p.Asn1240Ser)
|
|
|
NM_001378120.1(MBD5):c.3727A>G (p.Met1243Val)
|
rs1681325771
|
|
NM_001378120.1(MBD5):c.3728T>C (p.Met1243Thr)
|
rs1435405119
|
|
NM_001378120.1(MBD5):c.3730G>A (p.Ala1244Thr)
|
rs1386609853
|
|
NM_001378120.1(MBD5):c.3734G>A (p.Cys1245Tyr)
|
rs1559096858
|
|
NM_001378120.1(MBD5):c.3737T>C (p.Leu1246Pro)
|
|
|
NM_001378120.1(MBD5):c.3761T>G (p.Met1254Arg)
|
|
|
NM_001378120.1(MBD5):c.3764A>C (p.Gln1255Pro)
|
|
|
NM_001378120.1(MBD5):c.3766G>A (p.Glu1256Lys)
|
rs1064796473
|
|
NM_001378120.1(MBD5):c.3770A>T (p.Asp1257Val)
|
rs1681443164
|
|
NM_001378120.1(MBD5):c.3772G>T (p.Ala1258Ser)
|
rs1553520432
|
|
NM_001378120.1(MBD5):c.3791G>C (p.Arg1264Thr)
|
|
|
NM_001378120.1(MBD5):c.3797G>T (p.Ser1266Ile)
|
rs2105123807
|
|
NM_001378120.1(MBD5):c.3800C>T (p.Thr1267Ile)
|
rs1681444814
|
|
NM_001378120.1(MBD5):c.3812T>C (p.Leu1271Pro)
|
rs963277503
|
|
NM_001378120.1(MBD5):c.3856C>G (p.Gln1286Glu)
|
|
|
NM_001378120.1(MBD5):c.3881C>A (p.Pro1294Gln)
|
|
|
NM_001378120.1(MBD5):c.3902G>A (p.Gly1301Asp)
|
|
|
NM_001378120.1(MBD5):c.3904C>A (p.Gln1302Lys)
|
rs796052715
|
|
NM_001378120.1(MBD5):c.3917A>T (p.Asp1306Val)
|
|
|
NM_001378120.1(MBD5):c.3925G>T (p.Val1309Phe)
|
|
|
NM_001378120.1(MBD5):c.3931G>T (p.Gly1311Cys)
|
|
|
NM_001378120.1(MBD5):c.3932G>A (p.Gly1311Asp)
|
rs1352862206
|
|
NM_001378120.1(MBD5):c.3934G>T (p.Gly1312Cys)
|
rs1172686822
|
|
NM_001378120.1(MBD5):c.3935_3936delinsTT (p.Gly1312Val)
|
|
|
NM_001378120.1(MBD5):c.3938C>G (p.Pro1313Arg)
|
|
|
NM_001378120.1(MBD5):c.3940G>C (p.Gly1314Arg)
|
|
|
NM_001378120.1(MBD5):c.394A>G (p.Thr132Ala)
|
rs1707177360
|
|
NM_001378120.1(MBD5):c.3974T>A (p.Val1325Asp)
|
|
|
NM_001378120.1(MBD5):c.398-3C>T
|
|
|
NM_001378120.1(MBD5):c.3985G>A (p.Ala1329Thr)
|
|
|
NM_001378120.1(MBD5):c.4002G>T (p.Gln1334His)
|
rs1681454577
|
|
NM_001378120.1(MBD5):c.4013C>T (p.Thr1338Ile)
|
|
|
NM_001378120.1(MBD5):c.4031C>T (p.Thr1344Ile)
|
|
|
NM_001378120.1(MBD5):c.4048A>G (p.Ile1350Val)
|
|
|
NM_001378120.1(MBD5):c.4051C>T (p.Pro1351Ser)
|
rs886054912
|
|
NM_001378120.1(MBD5):c.4071T>A (p.Ser1357Arg)
|
|
|
NM_001378120.1(MBD5):c.4087A>G (p.Ile1363Val)
|
|
|
NM_001378120.1(MBD5):c.4091G>A (p.Gly1364Asp)
|
rs2105126261
|
|
NM_001378120.1(MBD5):c.4094A>G (p.Asp1365Gly)
|
|
|
NM_001378120.1(MBD5):c.4096C>T (p.Pro1366Ser)
|
|
|
NM_001378120.1(MBD5):c.4097C>G (p.Pro1366Arg)
|
rs2105126294
|
|
NM_001378120.1(MBD5):c.4115C>T (p.Ala1372Val)
|
rs1363547537
|
|
NM_001378120.1(MBD5):c.4122T>A (p.Ser1374Arg)
|
|
|
NM_001378120.1(MBD5):c.4126G>A (p.Val1376Ile)
|
|
|
NM_001378120.1(MBD5):c.4135G>C (p.Gly1379Arg)
|
rs1559098890
|
|
NM_001378120.1(MBD5):c.413T>C (p.Val138Ala)
|
rs2105622190
|
|
NM_001378120.1(MBD5):c.4141A>G (p.Asn1381Asp)
|
|
|
NM_001378120.1(MBD5):c.4142A>G (p.Asn1381Ser)
|
|
|
NM_001378120.1(MBD5):c.4143C>G (p.Asn1381Lys)
|
rs758083193
|
|
NM_001378120.1(MBD5):c.4151G>A (p.Gly1384Asp)
|
|
|
NM_001378120.1(MBD5):c.4160A>G (p.His1387Arg)
|
|
|
NM_001378120.1(MBD5):c.416C>G (p.Pro139Arg)
|
|
|
NM_001378120.1(MBD5):c.4185A>C (p.Arg1395Ser)
|
|
|
NM_001378120.1(MBD5):c.4187G>A (p.Gly1396Glu)
|
|
|
NM_001378120.1(MBD5):c.4204A>C (p.Asn1402His)
|
|
|
NM_001378120.1(MBD5):c.4219A>G (p.Lys1407Glu)
|
|
|
NM_001378120.1(MBD5):c.4237G>A (p.Asp1413Asn)
|
rs2105127714
|
|
NM_001378120.1(MBD5):c.4238A>T (p.Asp1413Val)
|
rs752035001
|
|
NM_001378120.1(MBD5):c.4247A>C (p.Glu1416Ala)
|
|
|
NM_001378120.1(MBD5):c.4248A>C (p.Glu1416Asp)
|
rs201465308
|
|
NM_001378120.1(MBD5):c.424G>A (p.Ala142Thr)
|
|
|
NM_001378120.1(MBD5):c.4265G>A (p.Ser1422Asn)
|
|
|
NM_001378120.1(MBD5):c.4268G>T (p.Cys1423Phe)
|
rs1486727511
|
|
NM_001378120.1(MBD5):c.4276T>G (p.Ser1426Ala)
|
rs1681466995
|
|
NM_001378120.1(MBD5):c.4277C>A (p.Ser1426Tyr)
|
|
|
NM_001378120.1(MBD5):c.4285C>G (p.Gln1429Glu)
|
rs1681467295
|
|
NM_001378120.1(MBD5):c.4288T>C (p.Trp1430Arg)
|
|
|
NM_001378120.1(MBD5):c.4292A>G (p.Asp1431Gly)
|
rs1681467352
|
|
NM_001378120.1(MBD5):c.4293C>G (p.Asp1431Glu)
|
|
|
NM_001378120.1(MBD5):c.4313G>A (p.Gly1438Glu)
|
rs1559099144
|
|
NM_001378120.1(MBD5):c.4313G>T (p.Gly1438Val)
|
rs1559099144
|
|
NM_001378120.1(MBD5):c.4317G>T (p.Glu1439Asp)
|
|
|
NM_001378120.1(MBD5):c.431C>T (p.Thr144Ile)
|
rs1553518402
|
|
NM_001378120.1(MBD5):c.4322A>G (p.Asn1441Ser)
|
rs1574485128
|
|
NM_001378120.1(MBD5):c.4333T>G (p.Tyr1445Asp)
|
rs1681469923
|
|
NM_001378120.1(MBD5):c.4336G>A (p.Glu1446Lys)
|
|
|
NM_001378120.1(MBD5):c.4372A>G (p.Ser1458Gly)
|
|
|
NM_001378120.1(MBD5):c.4387A>G (p.Arg1463Gly)
|
|
|
NM_001378120.1(MBD5):c.4387A>T (p.Arg1463Trp)
|
|
|
NM_001378120.1(MBD5):c.4389G>T (p.Arg1463Ser)
|
rs1371018820
|
|
NM_001378120.1(MBD5):c.4390C>T (p.Pro1464Ser)
|
|
|
NM_001378120.1(MBD5):c.4397A>G (p.Asn1466Ser)
|
rs1681472341
|
|
NM_001378120.1(MBD5):c.440C>T (p.Ser147Leu)
|
|
|
NM_001378120.1(MBD5):c.4414T>C (p.Phe1472Leu)
|
|
|
NM_001378120.1(MBD5):c.4431_4432delinsAA (p.His1478Asn)
|
rs2105129435
|
|
NM_001378120.1(MBD5):c.4439T>C (p.Ile1480Thr)
|
|
|
NM_001378120.1(MBD5):c.443T>C (p.Val148Ala)
|
|
|
NM_001378120.1(MBD5):c.4455A>C (p.Arg1485Ser)
|
rs747940875
|
|
NM_001378120.1(MBD5):c.4457A>C (p.Asn1486Thr)
|
rs1681475025
|
|
NM_001378120.1(MBD5):c.4471A>G (p.Lys1491Glu)
|
|
|
NM_001378120.1(MBD5):c.4474A>C (p.Ile1492Leu)
|
rs370231736
|
|
NM_001378120.1(MBD5):c.4483G>A (p.Glu1495Lys)
|
|
|
NM_001378120.1(MBD5):c.4492A>G (p.Arg1498Gly)
|
rs1165120864
|
|
NM_001378120.1(MBD5):c.4498A>G (p.Asn1500Asp)
|
|
|
NM_001378120.1(MBD5):c.4499A>T (p.Asn1500Ile)
|
|
|
NM_001378120.1(MBD5):c.4507A>G (p.Lys1503Glu)
|
rs1574485440
|
|
NM_001378120.1(MBD5):c.4520T>C (p.Met1507Thr)
|
|
|
NM_001378120.1(MBD5):c.4521G>T (p.Met1507Ile)
|
|
|
NM_001378120.1(MBD5):c.4523G>A (p.Ser1508Asn)
|
|
|
NM_001378120.1(MBD5):c.4540G>C (p.Glu1514Gln)
|
rs1296916399
|
|
NM_001378120.1(MBD5):c.4548T>C (p.Thr1516=)
|
rs1681478115
|
|
NM_001378120.1(MBD5):c.4591A>G (p.Ser1531Gly)
|
rs781154198
|
|
NM_001378120.1(MBD5):c.4618A>T (p.Thr1540Ser)
|
|
|
NM_001378120.1(MBD5):c.4637T>C (p.Val1546Ala)
|
|
|
NM_001378120.1(MBD5):c.4642G>A (p.Glu1548Lys)
|
|
|
NM_001378120.1(MBD5):c.4645G>A (p.Glu1549Lys)
|
|
|
NM_001378120.1(MBD5):c.4651T>C (p.Ser1551Pro)
|
|
|
NM_001378120.1(MBD5):c.4654C>T (p.Pro1552Ser)
|
|
|
NM_001378120.1(MBD5):c.4669A>G (p.Ser1557Gly)
|
|
|
NM_001378120.1(MBD5):c.4670G>A (p.Ser1557Asn)
|
rs1278585545
|
|
NM_001378120.1(MBD5):c.4679A>T (p.Asn1560Ile)
|
rs1559099606
|
|
NM_001378120.1(MBD5):c.467T>C (p.Ile156Thr)
|
rs1465957655
|
|
NM_001378120.1(MBD5):c.4682C>A (p.Ser1561Tyr)
|
|
|
NM_001378120.1(MBD5):c.4691A>G (p.Lys1564Arg)
|
|
|
NM_001378120.1(MBD5):c.4692A>C (p.Lys1564Asn)
|
rs1553520621
|
|
NM_001378120.1(MBD5):c.4703A>G (p.His1568Arg)
|
rs999944646
|
|
NM_001378120.1(MBD5):c.4704T>A (p.His1568Gln)
|
|
|
NM_001378120.1(MBD5):c.4709A>G (p.Asn1570Ser)
|
|
|
NM_001378120.1(MBD5):c.4741T>C (p.Cys1581Arg)
|
rs1396512077
|
|
NM_001378120.1(MBD5):c.4769G>A (p.Ser1590Asn)
|
rs2105131988
|
|
NM_001378120.1(MBD5):c.4833T>C (p.Tyr1611=)
|
rs1681489070
|
|
NM_001378120.1(MBD5):c.4837C>A (p.Pro1613Thr)
|
rs773779478
|
|
NM_001378120.1(MBD5):c.4837C>G (p.Pro1613Ala)
|
rs773779478
|
|
NM_001378120.1(MBD5):c.4848C>G (p.Phe1616Leu)
|
|
|
NM_001378120.1(MBD5):c.4849A>G (p.Asn1617Asp)
|
rs1681490063
|
|
NM_001378120.1(MBD5):c.4850A>C (p.Asn1617Thr)
|
rs753754490
|
|
NM_001378120.1(MBD5):c.4880A>G (p.Lys1627Arg)
|
|
|
NM_001378120.1(MBD5):c.4904A>T (p.Lys1635Ile)
|
rs1681492416
|
|
NM_001378120.1(MBD5):c.490T>C (p.Cys164Arg)
|
|
|
NM_001378120.1(MBD5):c.4920C>A (p.Asp1640Glu)
|
rs768363712
|
|
NM_001378120.1(MBD5):c.4924G>T (p.Val1642Phe)
|
rs770196931
|
|
NM_001378120.1(MBD5):c.4931A>T (p.Asn1644Ile)
|
|
|
NM_001378120.1(MBD5):c.4962+6C>A
|
rs2105133581
|
|
NM_001378120.1(MBD5):c.4963-2A>T
|
rs2105225632
|
|
NM_001378120.1(MBD5):c.4966G>C (p.Glu1656Gln)
|
|
|
NM_001378120.1(MBD5):c.4991C>G (p.Thr1664Arg)
|
|
|
NM_001378120.1(MBD5):c.4996G>A (p.Gly1666Ser)
|
|
|
NM_001378120.1(MBD5):c.5021G>C (p.Arg1674Pro)
|
|
|
NM_001378120.1(MBD5):c.503T>C (p.Phe168Ser)
|
|
|
NM_001378120.1(MBD5):c.5050A>T (p.Asn1684Tyr)
|
|
|
NM_001378120.1(MBD5):c.5071_5073dup (p.Ile1691_His1692insIle)
|
|
|
NM_001378120.1(MBD5):c.5085G>A (p.Met1695Ile)
|
rs1682172933
|
|
NM_001378120.1(MBD5):c.5086A>G (p.Ser1696Gly)
|
|
|
NM_001378120.1(MBD5):c.50C>A (p.Pro17Gln)
|
|
|
NM_001378120.1(MBD5):c.50C>T (p.Pro17Leu)
|
rs1706964965
|
|
NM_001378120.1(MBD5):c.5103_5104del (p.Met1701fs)
|
|
|
NM_001378120.1(MBD5):c.5104T>C (p.Ser1702Pro)
|
rs1131691294
|
|
NM_001378120.1(MBD5):c.5104_5107del (p.Ser1702fs)
|
|
|
NM_001378120.1(MBD5):c.5130G>C (p.Gln1710His)
|
rs2105294933
|
|
NM_001378120.1(MBD5):c.5138G>A (p.Arg1713Lys)
|
rs913152551
|
|
NM_001378120.1(MBD5):c.513G>A (p.Met171Ile)
|
rs1301707163
|
|
NM_001378120.1(MBD5):c.5140C>A (p.Gln1714Lys)
|
|
|
NM_001378120.1(MBD5):c.5140C>T (p.Gln1714Ter)
|
|
|
NM_001378120.1(MBD5):c.5149C>T (p.Pro1717Ser)
|
|
|
NM_001378120.1(MBD5):c.5153C>T (p.Pro1718Leu)
|
rs1682261070
|
|
NM_001378120.1(MBD5):c.5154dup (p.Lys1719fs)
|
|
|
NM_001378120.1(MBD5):c.5157A>T (p.Lys1719Asn)
|
rs1553523408
|
|
NM_001378120.1(MBD5):c.5159C>T (p.Pro1720Leu)
|
rs2105295194
|
|
NM_001378120.1(MBD5):c.515T>C (p.Ile172Thr)
|
rs1481914876
|
|
NM_001378120.1(MBD5):c.5175C>G (p.Ile1725Met)
|
|
|
NM_001378120.1(MBD5):c.5182T>A (p.Ter1728Lys)
|
|
|
NM_001378120.1(MBD5):c.521C>T (p.Ser174Leu)
|
|
|
NM_001378120.1(MBD5):c.524C>T (p.Ser175Leu)
|
|
|
NM_001378120.1(MBD5):c.540G>C (p.Arg180Ser)
|
|
|
NM_001378120.1(MBD5):c.540_541delinsTA (p.Arg180_Leu181delinsSerIle)
|
rs1680666363
|
|
NM_001378120.1(MBD5):c.55A>G (p.Ile19Val)
|
rs1559080667
|
|
NM_001378120.1(MBD5):c.560C>A (p.Pro187His)
|
rs2105623463
|
|
NM_001378120.1(MBD5):c.568CAA[2] (p.Gln192del)
|
|
|
NM_001378120.1(MBD5):c.577G>C (p.Glu193Gln)
|
|
|
NM_001378120.1(MBD5):c.601C>A (p.Gln201Lys)
|
|
|
NM_001378120.1(MBD5):c.611G>A (p.Gly204Asp)
|
rs2105624053
|
|
NM_001378120.1(MBD5):c.622C>T (p.His208Tyr)
|
rs1574458957
|
|
NM_001378120.1(MBD5):c.623A>G (p.His208Arg)
|
|
|
NM_001378120.1(MBD5):c.629A>G (p.Gln210Arg)
|
|
|
NM_001378120.1(MBD5):c.644G>A (p.Arg215His)
|
rs771325235
|
|
NM_001378120.1(MBD5):c.64C>T (p.Pro22Ser)
|
|
|
NM_001378120.1(MBD5):c.651C>G (p.Ser217Arg)
|
|
|
NM_001378120.1(MBD5):c.655G>A (p.Gly219Arg)
|
|
|
NM_001378120.1(MBD5):c.674C>T (p.Ala225Val)
|
rs1680672762
|
|
NM_001378120.1(MBD5):c.695A>G (p.Tyr232Cys)
|
|
|
NM_001378120.1(MBD5):c.698G>A (p.Gly233Glu)
|
rs1680673882
|
|
NM_001378120.1(MBD5):c.706T>C (p.Ser236Pro)
|
|
|
NM_001378120.1(MBD5):c.706T>G (p.Ser236Ala)
|
rs1680674275
|
|
NM_001378120.1(MBD5):c.70G>T (p.Gly24Cys)
|
rs2105537073
|
|
NM_001378120.1(MBD5):c.728C>T (p.Pro243Leu)
|
|
|
NM_001378120.1(MBD5):c.742G>A (p.Asp248Asn)
|
|
|
NM_001378120.1(MBD5):c.754A>G (p.Arg252Gly)
|
|
|
NM_001378120.1(MBD5):c.755G>A (p.Arg252Lys)
|
rs1680677784
|
|
NM_001378120.1(MBD5):c.759T>G (p.Ser253Arg)
|
|
|
NM_001378120.1(MBD5):c.779C>A (p.Ala260Asp)
|
|
|
NM_001378120.1(MBD5):c.788C>G (p.Ser263Cys)
|
|
|
NM_001378120.1(MBD5):c.797T>G (p.Ile266Ser)
|
rs2105626027
|
|
NM_001378120.1(MBD5):c.800A>G (p.His267Arg)
|
rs796052708
|
|
NM_001378120.1(MBD5):c.809G>A (p.Arg270Lys)
|
|
|
NM_001378120.1(MBD5):c.80G>A (p.Arg27His)
|
rs1706965994
|
|
NM_001378120.1(MBD5):c.811A>G (p.Thr271Ala)
|
rs899476247
|
|
NM_001378120.1(MBD5):c.814C>T (p.Pro272Ser)
|
|
|
NM_001378120.1(MBD5):c.817C>G (p.Leu273Val)
|
rs776894242
|
|
NM_001378120.1(MBD5):c.826C>G (p.Pro276Ala)
|
|
|
NM_001378120.1(MBD5):c.82C>T (p.Arg28Cys)
|
|
|
NM_001378120.1(MBD5):c.845G>A (p.Gly282Asp)
|
rs759201974
|
|
NM_001378120.1(MBD5):c.857A>G (p.Gln286Arg)
|
|
|
NM_001378120.1(MBD5):c.887A>G (p.Asn296Ser)
|
rs990703439
|
|
NM_001378120.1(MBD5):c.889A>C (p.Ile297Leu)
|
rs2105626905
|
|
NM_001378120.1(MBD5):c.889A>G (p.Ile297Val)
|
rs2105626905
|
|
NM_001378120.1(MBD5):c.893C>T (p.Pro298Leu)
|
|
|
NM_001378120.1(MBD5):c.8G>T (p.Gly3Val)
|
rs794727807
|
|
NM_001378120.1(MBD5):c.920G>A (p.Ser307Asn)
|
|
|
NM_001378120.1(MBD5):c.923C>A (p.Pro308Gln)
|
|
|
NM_001378120.1(MBD5):c.937C>A (p.Pro313Thr)
|
|
|
NM_001378120.1(MBD5):c.942G>A (p.Met314Ile)
|
|
|
NM_001378120.1(MBD5):c.948T>A (p.Asn316Lys)
|
|
|
NM_001378120.1(MBD5):c.971C>G (p.Pro324Arg)
|
|
|
NM_001378120.1(MBD5):c.979A>G (p.Met327Val)
|
rs1680685772
|
|
NM_001378120.1(MBD5):c.989A>G (p.His330Arg)
|
rs750043178
|
|
NM_001378414.1(HDAC4):c.1387C>T (p.Gln463Ter)
|
rs2040205774
|
|
NM_001378414.1(HDAC4):c.2414dup (p.Gly806fs)
|
rs748900140
|
|
NM_001378414.1(HDAC4):c.490+56_490+120del
|
|
|
NM_001379200.1(TBX1):c.1000G>A (p.Val334Met)
|
|
|
NM_001379200.1(TBX1):c.1004C>T (p.Ala335Val)
|
|
|
NM_001379200.1(TBX1):c.101G>C (p.Gly34Ala)
|
rs1335862067
|
|
NM_001379200.1(TBX1):c.1024G>T (p.Gly342Cys)
|
rs1294861011
|
|
NM_001379200.1(TBX1):c.1026C>T (p.Gly342=)
|
|
|
NM_001379200.1(TBX1):c.1028C>A (p.Thr343Lys)
|
|
|
NM_001379200.1(TBX1):c.1030G>A (p.Glu344Lys)
|
|
|
NM_001379200.1(TBX1):c.1036+4G>T
|
rs1936826165
|
|
NM_001379200.1(TBX1):c.1036+6G>A
|
|
|
NM_001379200.1(TBX1):c.1036G>A (p.Asp346Asn)
|
|
|
NM_001379200.1(TBX1):c.1037-11C>T
|
|
|
NM_001379200.1(TBX1):c.1037-1G>A
|
rs1936844527
|
|
NM_001379200.1(TBX1):c.1037-7_1037-6del
|
rs1037168604
|
|
NM_001379200.1(TBX1):c.1041G>A (p.Ala347=)
|
|
|
NM_001379200.1(TBX1):c.1045G>A (p.Glu349Lys)
|
|
|
NM_001379200.1(TBX1):c.1046A>T (p.Glu349Val)
|
rs751917634
|
|
NM_001379200.1(TBX1):c.104G>A (p.Gly35Asp)
|
|
|
NM_001379200.1(TBX1):c.104G>T (p.Gly35Val)
|
|
|
NM_001379200.1(TBX1):c.1051C>T (p.Arg351Trp)
|
|
|
NM_001379200.1(TBX1):c.1066C>A (p.Arg356Ser)
|
rs1046395605
|
|
NM_001379200.1(TBX1):c.1067G>A (p.Arg356His)
|
|
|
NM_001379200.1(TBX1):c.1070A>G (p.Asp357Gly)
|
|
|
NM_001379200.1(TBX1):c.1071C>A (p.Asp357Glu)
|
|
|
NM_001379200.1(TBX1):c.1072G>A (p.Ala358Thr)
|
|
|
NM_001379200.1(TBX1):c.1073C>G (p.Ala358Gly)
|
rs1452987245
|
|
NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp)
|
rs781731042
|
|
NM_001379200.1(TBX1):c.1076G>T (p.Gly359Val)
|
rs781731042
|
|
NM_001379200.1(TBX1):c.1085C>T (p.Ala362Val)
|
rs569581176
|
|
NM_001379200.1(TBX1):c.1089_1090delinsAA (p.Leu364Ile)
|
|
|
NM_001379200.1(TBX1):c.1090C>T (p.Leu364Phe)
|
rs1200093941
|
|
NM_001379200.1(TBX1):c.1096G>A (p.Asp366Asn)
|
|
|
NM_001379200.1(TBX1):c.1099C>G (p.Pro367Ala)
|
rs2145838185
|
|
NM_001379200.1(TBX1):c.109C>A (p.Pro37Thr)
|
rs2145827634
|
|
NM_001379200.1(TBX1):c.1105C>T (p.His369Tyr)
|
rs1936848458
|
|
NM_001379200.1(TBX1):c.1112C>T (p.Pro371Leu)
|
|
|
NM_001379200.1(TBX1):c.1118T>A (p.Leu373Gln)
|
|
|
NM_001379200.1(TBX1):c.1121T>C (p.Leu374Pro)
|
|
|
NM_001379200.1(TBX1):c.1135A>G (p.Ser379Gly)
|
rs2145838292
|
|
NM_001379200.1(TBX1):c.1138C>T (p.Pro380Ser)
|
rs922499443
|
|
NM_001379200.1(TBX1):c.1142C>T (p.Ser381Leu)
|
rs1936850184
|
|
NM_001379200.1(TBX1):c.1145T>C (p.Leu382Pro)
|
rs2145838313
|
|
NM_001379200.1(TBX1):c.1148C>A (p.Pro383His)
|
rs953761540
|
|
NM_001379200.1(TBX1):c.1149_1150insAGGGCCGGC (p.Pro383_Gly384insArgAlaGly)
|
rs1192078635
|
|
NM_001379200.1(TBX1):c.1150_1152delinsAGGGCCGGCGGC (p.Pro383_Gly384insArgAlaGly)
|
rs1555896709
|
|
NM_001379200.1(TBX1):c.1152_1160dup (p.Gly390_Leu391insAlaGlyGly)
|
|
|
NM_001379200.1(TBX1):c.1153GCCGGCGGC[1] (p.385AGG[1])
|
rs1288296547
|
|
NM_001379200.1(TBX1):c.115G>A (p.Ala39Thr)
|
|
|
NM_001379200.1(TBX1):c.115_213del (p.Ala39_Gly71del)
|
|
|
NM_001379200.1(TBX1):c.1160G>A (p.Gly387Asp)
|
rs2145838410
|
|
NM_001379200.1(TBX1):c.1165G>A (p.Gly389Ser)
|
|
|
NM_001379200.1(TBX1):c.1168G>C (p.Gly390Arg)
|
rs1408610906
|
|
NM_001379200.1(TBX1):c.1177C>T (p.Pro393Ser)
|
rs1936852709
|
|
NM_001379200.1(TBX1):c.1178C>G (p.Pro393Arg)
|
|
|
NM_001379200.1(TBX1):c.1180C>A (p.Leu394Met)
|
|
|
NM_001379200.1(TBX1):c.1189G>A (p.Ala397Thr)
|
rs2145838479
|
|
NM_001379200.1(TBX1):c.1196G>A (p.Gly399Glu)
|
rs1274082696
|
|
NM_001379200.1(TBX1):c.1196G>T (p.Gly399Val)
|
|
|
NM_001379200.1(TBX1):c.1198G>C (p.Gly400Arg)
|
rs1936854182
|
|
NM_001379200.1(TBX1):c.1202G>A (p.Arg401Gln)
|
rs1270901790
|
|
NM_001379200.1(TBX1):c.1204C>T (p.Pro402Ser)
|
rs1485590152
|
|
NM_001379200.1(TBX1):c.1205C>G (p.Pro402Arg)
|
rs1936854828
|
|
NM_001379200.1(TBX1):c.1208G>A (p.Ser403Asn)
|
rs749558577
|
|
NM_001379200.1(TBX1):c.1210C>T (p.Pro404Ser)
|
|
|
NM_001379200.1(TBX1):c.1214C>G (p.Pro405Arg)
|
|
|
NM_001379200.1(TBX1):c.1217A>G (p.Asn406Ser)
|
rs1936855908
|
|
NM_001379200.1(TBX1):c.1238C>T (p.Ala413Val)
|
|
|
NM_001379200.1(TBX1):c.1247C>T (p.Ala416Val)
|
|
|
NM_001379200.1(TBX1):c.124C>T (p.Pro42Ser)
|
rs2145827697
|
|
NM_001379200.1(TBX1):c.1250C>T (p.Ser417Leu)
|
rs779281442
|
|
NM_001379200.1(TBX1):c.1254G>T (p.Glu418Asp)
|
|
|
NM_001379200.1(TBX1):c.1256C>T (p.Pro419Leu)
|
|
|
NM_001379200.1(TBX1):c.1261C>A (p.His421Asn)
|
rs985907694
|
|
NM_001379200.1(TBX1):c.1265A>G (p.His422Arg)
|
|
|
NM_001379200.1(TBX1):c.1266_1267delinsAT (p.His422_His423delinsGlnTyr)
|
|
|
NM_001379200.1(TBX1):c.1268A>C (p.His423Pro)
|
|
|
NM_001379200.1(TBX1):c.1273T>C (p.Tyr425His)
|
rs1243986502
|
|
NM_001379200.1(TBX1):c.1276A>C (p.Lys426Gln)
|
|
|
NM_001379200.1(TBX1):c.127G>A (p.Gly43Ser)
|
rs1936637392
|
|
NM_001379200.1(TBX1):c.127G>T (p.Gly43Cys)
|
rs1936637392
|
|
NM_001379200.1(TBX1):c.1280A>T (p.Tyr427Phe)
|
rs1601294456
|
|
NM_001379200.1(TBX1):c.1282C>T (p.Pro428Ser)
|
|
|
NM_001379200.1(TBX1):c.1283C>G (p.Pro428Arg)
|
|
|
NM_001379200.1(TBX1):c.1297G>T (p.Asp433Tyr)
|
rs758517884
|
|
NM_001379200.1(TBX1):c.1299C>A (p.Asp433Glu)
|
|
|
NM_001379200.1(TBX1):c.1301A>C (p.His434Pro)
|
|
|
NM_001379200.1(TBX1):c.1301A>G (p.His434Arg)
|
|
|
NM_001379200.1(TBX1):c.1302_1304del (p.Tyr435del)
|
rs1936861633
|
|
NM_001379200.1(TBX1):c.1306C>T (p.Leu436Phe)
|
|
|
NM_001379200.1(TBX1):c.1309G>T (p.Gly437Trp)
|
|
|
NM_001379200.1(TBX1):c.1312G>T (p.Ala438Ser)
|
|
|
NM_001379200.1(TBX1):c.1320C>G (p.Ser440Arg)
|
rs2145838985
|
|
NM_001379200.1(TBX1):c.1321C>T (p.Arg441Trp)
|
|
|
NM_001379200.1(TBX1):c.1342C>A (p.Pro448Thr)
|
|
|
NM_001379200.1(TBX1):c.1345G>A (p.Gly449Ser)
|
rs777873225
|
|
NM_001379200.1(TBX1):c.1345G>C (p.Gly449Arg)
|
rs777873225
|
|
NM_001379200.1(TBX1):c.1348C>G (p.Leu450Val)
|
rs751740430
|
|
NM_001379200.1(TBX1):c.1361_1375del (p.Gly454_His458del)
|
|
|
NM_001379200.1(TBX1):c.1361_1384dup (p.Pro461_His462insArgTyrHisProHisAlaHisPro)
|
|
|
NM_001379200.1(TBX1):c.1363T>C (p.Tyr455His)
|
|
|
NM_001379200.1(TBX1):c.1368C>A (p.His456Gln)
|
rs1601294758
|
|
NM_001379200.1(TBX1):c.1369C>T (p.Pro457Ser)
|
|
|
NM_001379200.1(TBX1):c.1370C>G (p.Pro457Arg)
|
|
|
NM_001379200.1(TBX1):c.1375_1386dup (p.His462_His463insAlaHisProHis)
|
|
|
NM_001379200.1(TBX1):c.1375dup (p.Ala459fs)
|
|
|
NM_001379200.1(TBX1):c.1376C>T (p.Ala459Val)
|
rs1936866904
|
|
NM_001379200.1(TBX1):c.1379A>T (p.His460Leu)
|
rs1384737337
|
|
NM_001379200.1(TBX1):c.1380T>A (p.His460Gln)
|
|
|
NM_001379200.1(TBX1):c.1380T>G (p.His460Gln)
|
rs367711718
|
|
NM_001379200.1(TBX1):c.1381C>T (p.Pro461Ser)
|
|
|
NM_001379200.1(TBX1):c.1382C>T (p.Pro461Leu)
|
rs1936867566
|
|
NM_001379200.1(TBX1):c.1385ACC[3] (p.His465_His466del)
|
rs753713234
|
|
NM_001379200.1(TBX1):c.1385ACC[6] (p.His466_Pro467insHis)
|
|
|
NM_001379200.1(TBX1):c.1385ACC[7] (p.His466_Pro467insHisHis)
|
|
|
NM_001379200.1(TBX1):c.1387C>A (p.His463Asn)
|
|
|
NM_001379200.1(TBX1):c.1388A>G (p.His463Arg)
|
|
|
NM_001379200.1(TBX1):c.1393C>G (p.His465Asp)
|
rs2145839292
|
|
NM_001379200.1(TBX1):c.1394_1397dup (p.His466fs)
|
|
|
NM_001379200.1(TBX1):c.1399C>A (p.Pro467Thr)
|
rs765827356
|
|
NM_001379200.1(TBX1):c.1399C>T (p.Pro467Ser)
|
|
|
NM_001379200.1(TBX1):c.1400C>T (p.Pro467Leu)
|
rs1936869060
|
|
NM_001379200.1(TBX1):c.1408_1416del (p.Pro470_Ala472del)
|
|
|
NM_001379200.1(TBX1):c.1408_1446del (p.Pro470_Ala482del)
|
rs1238730283
|
|
NM_001379200.1(TBX1):c.1414_1415del (p.Ala472fs)
|
|
|
NM_001379200.1(TBX1):c.1417G>T (p.Ala473Ser)
|
|
|
NM_001379200.1(TBX1):c.1419_1421dup (p.Ala485_Asn486insAla)
|
|
|
NM_001379200.1(TBX1):c.1419_1424dup (p.Ala484_Ala485dup)
|
rs1478207118
|
|
NM_001379200.1(TBX1):c.1419_1427dup (p.Ala485_Asn486insAlaAlaAla)
|
|
|
NM_001379200.1(TBX1):c.1419_1433del (p.Ala481_Ala485del)
|
rs780815537
|
|
NM_001379200.1(TBX1):c.1421C>T (p.Ala474Val)
|
|
|
NM_001379200.1(TBX1):c.1422CGC[5] (p.Ala485dup)
|
rs756680878
|
|
NM_001379200.1(TBX1):c.1422CGC[6] (p.Ala485_Asn486insAlaAla)
|
|
|
NM_001379200.1(TBX1):c.1423G>A (p.Ala475Thr)
|
|
|
NM_001379200.1(TBX1):c.1426_1455del (p.Ala476_Ala485del)
|
rs746335599
|
|
NM_001379200.1(TBX1):c.1426_1455dup (p.Ala485_Asn486insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
|
rs746335599
|
|
NM_001379200.1(TBX1):c.1436_1474dup (p.Ala479_Ala491dup)
|
rs1569024504
|
|
NM_001379200.1(TBX1):c.143G>T (p.Gly48Val)
|
|
|
NM_001379200.1(TBX1):c.1440_1448dup (p.Ala483_Ala485dup)
|
rs748434309
|
|
NM_001379200.1(TBX1):c.1440_1454dup (p.Ala485_Asn486insAlaAlaAlaAlaAla)
|
|
|
NM_001379200.1(TBX1):c.1443_1451dup (p.Ala483_Ala485dup)
|
rs760701410
|
|
NM_001379200.1(TBX1):c.1447G>T (p.Ala483Ser)
|
|
|
NM_001379200.1(TBX1):c.1451C>T (p.Ala484Val)
|
rs1407079342
|
|
NM_001379200.1(TBX1):c.1459A>G (p.Met487Val)
|
|
|
NM_001379200.1(TBX1):c.1459A>T (p.Met487Leu)
|
rs1936874664
|
|
NM_001379200.1(TBX1):c.1461G>A (p.Met487Ile)
|
rs371506174
|
|
NM_001379200.1(TBX1):c.1465T>C (p.Ser489Pro)
|
|
|
NM_001379200.1(TBX1):c.1465TCG[1] (p.Ser490del)
|
|
|
NM_001379200.1(TBX1):c.1466C>T (p.Ser489Leu)
|
rs2145839683
|
|
NM_001379200.1(TBX1):c.1468T>C (p.Ser490Pro)
|
|
|
NM_001379200.1(TBX1):c.1474G>T (p.Gly492Ter)
|
rs541198585
|
|
NM_001379200.1(TBX1):c.1483_1488del (p.Pro495_Pro496del)
|
|
|
NM_001379200.1(TBX1):c.1484C>A (p.Pro495Gln)
|
rs762076391
|
|
NM_001379200.1(TBX1):c.1495T>G (p.Tyr499Asp)
|
|
|
NM_001379200.1(TBX1):c.1501T>A (p.Tyr501Asn)
|
|
|
NM_001379200.1(TBX1):c.1502A>G (p.Tyr501Cys)
|
|
|
NM_001379200.1(TBX1):c.1508C>T (p.Pro503Leu)
|
|
|
NM_001379200.1(TBX1):c.152_232del (p.Glu51_His77del)
|
rs1601282938
|
|
NM_001379200.1(TBX1):c.154C>A (p.Pro52Thr)
|
|
|
NM_001379200.1(TBX1):c.157C>T (p.Pro53Ser)
|
rs1936638931
|
|
NM_001379200.1(TBX1):c.158CGC[3] (p.Pro56_Pro57del)
|
rs886038791
|
|
NM_001379200.1(TBX1):c.166C>T (p.Pro56Ser)
|
|
|
NM_001379200.1(TBX1):c.167_229del (p.Pro56_Pro76del)
|
rs2145827836
|
|
NM_001379200.1(TBX1):c.170C>T (p.Pro57Leu)
|
|
|
NM_001379200.1(TBX1):c.170_229del (p.Pro57_Pro76del)
|
|
|
NM_001379200.1(TBX1):c.173_229del (p.Arg58_Pro76del)
|
rs1569018211
|
|
NM_001379200.1(TBX1):c.182C>T (p.Pro61Leu)
|
rs1936640287
|
|
NM_001379200.1(TBX1):c.185G>A (p.Cys62Tyr)
|
|
|
NM_001379200.1(TBX1):c.187GCC[3] (p.Ala66del)
|
|
|
NM_001379200.1(TBX1):c.187GCC[5] (p.Ala66dup)
|
rs1032291296
|
|
NM_001379200.1(TBX1):c.187GCC[6] (p.Ala65_Ala66dup)
|
rs1032291296
|
|
NM_001379200.1(TBX1):c.187GCC[7] (p.Ala64_Ala66dup)
|
rs1032291296
|
|
NM_001379200.1(TBX1):c.194_202del (p.Ala65_Pro67del)
|
rs1601283061
|
|
NM_001379200.1(TBX1):c.203G>A (p.Gly68Asp)
|
|
|
NM_001379200.1(TBX1):c.212G>A (p.Gly71Asp)
|
|
|
NM_001379200.1(TBX1):c.215CGC[4] (p.Pro76del)
|
|
|
NM_001379200.1(TBX1):c.215CGC[7] (p.Pro75_Pro76dup)
|
rs1009463279
|
|
NM_001379200.1(TBX1):c.218C>T (p.Pro73Leu)
|
rs1936642852
|
|
NM_001379200.1(TBX1):c.220C>T (p.Pro74Ser)
|
rs1936642931
|
|
NM_001379200.1(TBX1):c.221C>T (p.Pro74Leu)
|
|
|
NM_001379200.1(TBX1):c.224C>T (p.Pro75Leu)
|
|
|
NM_001379200.1(TBX1):c.227C>T (p.Pro76Leu)
|
|
|
NM_001379200.1(TBX1):c.230A>C (p.His77Pro)
|
|
|
NM_001379200.1(TBX1):c.230A>T (p.His77Leu)
|
|
|
NM_001379200.1(TBX1):c.232G>A (p.Ala78Thr)
|
rs1028072654
|
|
NM_001379200.1(TBX1):c.239C>A (p.Pro80Gln)
|
|
|
NM_001379200.1(TBX1):c.239C>G (p.Pro80Arg)
|
rs984681986
|
|
NM_001379200.1(TBX1):c.245C>A (p.Ala82Glu)
|
|
|
NM_001379200.1(TBX1):c.247C>T (p.Pro83Ser)
|
|
|
NM_001379200.1(TBX1):c.253G>A (p.Ala85Thr)
|
rs769629385
|
|
NM_001379200.1(TBX1):c.259G>T (p.Ala87Ser)
|
|
|
NM_001379200.1(TBX1):c.262G>A (p.Ala88Thr)
|
|
|
NM_001379200.1(TBX1):c.265_276del (p.Thr89_Ala92del)
|
|
|
NM_001379200.1(TBX1):c.277_278delinsAA (p.Ala93Asn)
|
|
|
NM_001379200.1(TBX1):c.284C>G (p.Pro95Arg)
|
rs775295536
|
|
NM_001379200.1(TBX1):c.290G>A (p.Gly97Asp)
|
|
|
NM_001379200.1(TBX1):c.302G>C (p.Ser101Thr)
|
|
|
NM_001379200.1(TBX1):c.310G>A (p.Ala104Thr)
|
rs1936647003
|
|
NM_001379200.1(TBX1):c.323C>A (p.Ala108Glu)
|
|
|
NM_001379200.1(TBX1):c.326C>T (p.Pro109Leu)
|
rs754087937
|
|
NM_001379200.1(TBX1):c.328G>T (p.Val110Leu)
|
rs1221938042
|
|
NM_001379200.1(TBX1):c.341C>A (p.Ala114Glu)
|
|
|
NM_001379200.1(TBX1):c.341C>T (p.Ala114Val)
|
|
|
NM_001379200.1(TBX1):c.353G>A (p.Gly118Asp)
|
|
|
NM_001379200.1(TBX1):c.366G>C (p.Gln122His)
|
|
|
NM_001379200.1(TBX1):c.370G>C (p.Glu124Gln)
|
|
|
NM_001379200.1(TBX1):c.373A>T (p.Met125Leu)
|
|
|
NM_001379200.1(TBX1):c.380C>T (p.Ala127Val)
|
rs1601283489
|
|
NM_001379200.1(TBX1):c.390C>G (p.Asp130Glu)
|
rs772419022
|
|
NM_001379200.1(TBX1):c.402G>C (p.Gln134His)
|
|
|
NM_001379200.1(TBX1):c.412G>A (p.Glu138Lys)
|
rs1445910672
|
|
NM_001379200.1(TBX1):c.421G>C (p.Val141Leu)
|
|
|
NM_001379200.1(TBX1):c.428A>G (p.Lys143Arg)
|
|
|
NM_001379200.1(TBX1):c.42G>T (p.Ser14=)
|
|
|
NM_001379200.1(TBX1):c.433G>A (p.Gly145Ser)
|
|
|
NM_001379200.1(TBX1):c.437+3C>G
|
rs759797253
|
|
NM_001379200.1(TBX1):c.437+3C>T
|
rs759797253
|
|
NM_001379200.1(TBX1):c.438-14C>G
|
|
|
NM_001379200.1(TBX1):c.438-5C>A
|
rs972035685
|
|
NM_001379200.1(TBX1):c.438G>A (p.Arg146=)
|
rs2145832204
|
|
NM_001379200.1(TBX1):c.439C>T (p.Arg147Trp)
|
rs1936724586
|
|
NM_001379200.1(TBX1):c.447T>G (p.Phe149Leu)
|
rs41298814
|
|
NM_001379200.1(TBX1):c.448C>T (p.Pro150Ser)
|
rs1936725102
|
|
NM_001379200.1(TBX1):c.465G>C (p.Lys155Asn)
|
|
|
NM_001379200.1(TBX1):c.470T>C (p.Phe157Ser)
|
|
|
NM_001379200.1(TBX1):c.473G>A (p.Gly158Asp)
|
|
|
NM_001379200.1(TBX1):c.485T>C (p.Met162Thr)
|
|
|
NM_001379200.1(TBX1):c.490G>A (p.Asp164Asn)
|
|
|
NM_001379200.1(TBX1):c.496A>G (p.Met166Val)
|
|
|
NM_001379200.1(TBX1):c.502C>T (p.Leu168Phe)
|
|
|
NM_001379200.1(TBX1):c.507G>A (p.Met169Ile)
|
|
|
NM_001379200.1(TBX1):c.511T>A (p.Phe171Ile)
|
rs2145832375
|
|
NM_001379200.1(TBX1):c.514G>A (p.Val172Met)
|
|
|
NM_001379200.1(TBX1):c.518C>A (p.Pro173Gln)
|
rs766205381
|
|
NM_001379200.1(TBX1):c.526G>A (p.Asp176Asn)
|
|
|
NM_001379200.1(TBX1):c.527A>G (p.Asp176Gly)
|
|
|
NM_001379200.1(TBX1):c.538C>A (p.Arg180=)
|
rs746384751
|
|
NM_001379200.1(TBX1):c.538C>T (p.Arg180Trp)
|
|
|
NM_001379200.1(TBX1):c.539+6C>T
|
|
|
NM_001379200.1(TBX1):c.539G>A (p.Arg180Gln)
|
rs770313856
|
|
NM_001379200.1(TBX1):c.562T>C (p.Trp188Arg)
|
|
|
NM_001379200.1(TBX1):c.569T>C (p.Val190Ala)
|
|
|
NM_001379200.1(TBX1):c.570G>A (p.Val190=)
|
rs2145833805
|
|
NM_001379200.1(TBX1):c.595C>T (p.Pro199Ser)
|
|
|
NM_001379200.1(TBX1):c.604G>A (p.Val202Met)
|
|
|
NM_001379200.1(TBX1):c.608A>G (p.His203Arg)
|
|
|
NM_001379200.1(TBX1):c.616C>G (p.Pro206Ala)
|
|
|
NM_001379200.1(TBX1):c.638C>T (p.Ala213Val)
|
|
|
NM_001379200.1(TBX1):c.646A>G (p.Met216Val)
|
rs1224140312
|
|
NM_001379200.1(TBX1):c.667G>A (p.Asp223Asn)
|
rs2145834053
|
|
NM_001379200.1(TBX1):c.68C>A (p.Thr23Lys)
|
|
|
NM_001379200.1(TBX1):c.706G>A (p.Gly236Ser)
|
rs1294894854
|
|
NM_001379200.1(TBX1):c.70G>A (p.Ala24Thr)
|
rs965143242
|
|
NM_001379200.1(TBX1):c.711+6C>T
|
|
|
NM_001379200.1(TBX1):c.732C>T (p.His244=)
|
|
|
NM_001379200.1(TBX1):c.736T>C (p.Tyr246His)
|
|
|
NM_001379200.1(TBX1):c.761A>C (p.Tyr254Ser)
|
|
|
NM_001379200.1(TBX1):c.761A>G (p.Tyr254Cys)
|
|
|
NM_001379200.1(TBX1):c.772C>T (p.Arg258Cys)
|
|
|
NM_001379200.1(TBX1):c.784G>C (p.Glu262Gln)
|
rs553807294
|
|
NM_001379200.1(TBX1):c.796G>A (p.Glu266Lys)
|
|
|
NM_001379200.1(TBX1):c.801G>T (p.Glu267Asp)
|
|
|
NM_001379200.1(TBX1):c.820T>C (p.Phe274Leu)
|
|
|
NM_001379200.1(TBX1):c.823G>A (p.Glu275Lys)
|
rs144848597
|
|
NM_001379200.1(TBX1):c.823G>C (p.Glu275Gln)
|
|
|
NM_001379200.1(TBX1):c.848C>G (p.Thr283Ser)
|
rs2145835312
|
|
NM_001379200.1(TBX1):c.884T>C (p.Ile295Thr)
|
|
|
NM_001379200.1(TBX1):c.911T>C (p.Phe304Ser)
|
|
|
NM_001379200.1(TBX1):c.925C>A (p.Pro309Thr)
|
rs1936813859
|
|
NM_001379200.1(TBX1):c.92G>T (p.Gly31Val)
|
|
|
NM_001379200.1(TBX1):c.935+16C>A
|
rs200879129
|
|
NM_001379200.1(TBX1):c.935+17GA[2]
|
rs770044781
|
|
NM_001379200.1(TBX1):c.938C>A (p.Pro313His)
|
rs1014592830
|
|
NM_001379200.1(TBX1):c.938C>T (p.Pro313Leu)
|
|
|
NM_001379200.1(TBX1):c.949C>G (p.Arg317Gly)
|
|
|
NM_001379200.1(TBX1):c.950G>T (p.Arg317Leu)
|
|
|
NM_001379200.1(TBX1):c.954_965del (p.Gly319_Pro322del)
|
|
|
NM_001379200.1(TBX1):c.955G>T (p.Gly319Cys)
|
rs41298838
|
|
NM_001379200.1(TBX1):c.962T>C (p.Leu321Pro)
|
rs2145836969
|
|
NM_001379200.1(TBX1):c.965C>A (p.Pro322Gln)
|
|
|
NM_001379200.1(TBX1):c.971T>G (p.Met324Arg)
|
|
|
NM_001379200.1(TBX1):c.972G>C (p.Met324Ile)
|
|
|
NM_001379200.1(TBX1):c.974G>C (p.Ser325Thr)
|
rs775788782
|
|
NM_001379200.1(TBX1):c.985C>T (p.Arg329Cys)
|
rs773107514
|
|
NM_001379291.1(BRD4):c.629C>G (p.Thr210Ser)
|
rs745976416
|
|
NM_001386298.1(CIC):c.2917C>T (p.His973Tyr)
|
|
|
NM_002049.4(GATA1):c.893G>A (p.Arg298Gln)
|
rs2147307511
|
|
NM_002049.4(GATA1):c.944A>G (p.Lys315Arg)
|
rs782326935
|
|
NM_002397.5(MEF2C):c.-142-25787T>G
|
rs2153377579
|
|
NM_002397.5(MEF2C):c.1037C>T (p.Ser346Leu)
|
|
|
NM_002397.5(MEF2C):c.1072A>G (p.Met358Val)
|
|
|
NM_002397.5(MEF2C):c.1084G>T (p.Ala362Ser)
|
rs1481007836
|
|
NM_002397.5(MEF2C):c.109G>A (p.Val37Met)
|
|
|
NM_002397.5(MEF2C):c.110T>C (p.Val37Ala)
|
rs1799677960
|
|
NM_002397.5(MEF2C):c.1128G>C (p.Gln376His)
|
rs1756837959
|
|
NM_002397.5(MEF2C):c.1135A>C (p.Asn379His)
|
|
|
NM_002397.5(MEF2C):c.1138C>A (p.Leu380Ile)
|
|
|
NM_002397.5(MEF2C):c.1139T>A (p.Leu380His)
|
|
|
NM_002397.5(MEF2C):c.119A>G (p.Asp40Gly)
|
rs2153074606
|
|
NM_002397.5(MEF2C):c.1207A>T (p.Thr403Ser)
|
|
|
NM_002397.5(MEF2C):c.1211C>A (p.Thr404Asn)
|
rs1756812909
|
|
NM_002397.5(MEF2C):c.1247C>T (p.Ala416Val)
|
rs768570497
|
|
NM_002397.5(MEF2C):c.1258C>T (p.Pro420Ser)
|
|
|
NM_002397.5(MEF2C):c.128T>G (p.Ile43Ser)
|
|
|
NM_002397.5(MEF2C):c.1298_1303dup (p.Gly433_Ser434dup)
|
rs1272732104
|
|
NM_002397.5(MEF2C):c.1301G>A (p.Ser434Asn)
|
|
|
NM_002397.5(MEF2C):c.1319G>A (p.Arg440Gln)
|
rs1360994640
|
|
NM_002397.5(MEF2C):c.131C>A (p.Ala44Glu)
|
|
|
NM_002397.5(MEF2C):c.131C>T (p.Ala44Val)
|
rs1799664202
|
|
NM_002397.5(MEF2C):c.1337C>G (p.Pro446Arg)
|
rs2152042647
|
|
NM_002397.5(MEF2C):c.1337C>T (p.Pro446Leu)
|
|
|
NM_002397.5(MEF2C):c.1339A>G (p.Ile447Val)
|
rs1756753374
|
|
NM_002397.5(MEF2C):c.1366G>T (p.Glu456Ter)
|
|
|
NM_002397.5(MEF2C):c.1368A>C (p.Glu456Asp)
|
|
|
NM_002397.5(MEF2C):c.137T>A (p.Ile46Asn)
|
rs1799660837
|
|
NM_002397.5(MEF2C):c.1382C>A (p.Ser461Ter)
|
rs2152041454
|
|
NM_002397.5(MEF2C):c.1403C>T (p.Ser468Phe)
|
rs607159
|
|
NM_002397.5(MEF2C):c.1A>G (p.Met1Val)
|
rs1432291994
|
|
NM_002397.5(MEF2C):c.206A>T (p.Tyr69Phe)
|
rs2153074116
|
|
NM_002397.5(MEF2C):c.21G>T (p.Gln7His)
|
rs1554150584
|
|
NM_002397.5(MEF2C):c.258+20G>A
|
|
|
NM_002397.5(MEF2C):c.258+3G>A
|
|
|
NM_002397.5(MEF2C):c.26C>T (p.Thr9Met)
|
rs2153222916
|
|
NM_002397.5(MEF2C):c.280A>G (p.Asn94Asp)
|
rs1777743502
|
|
NM_002397.5(MEF2C):c.304G>C (p.Asp102His)
|
rs2152674244
|
|
NM_002397.5(MEF2C):c.312C>A (p.Asp104Glu)
|
|
|
NM_002397.5(MEF2C):c.320T>C (p.Val107Ala)
|
|
|
NM_002397.5(MEF2C):c.345C>G (p.Asp115Glu)
|
|
|
NM_002397.5(MEF2C):c.346A>G (p.Lys116Glu)
|
rs1777713411
|
|
NM_002397.5(MEF2C):c.387C>G (p.Ser129Arg)
|
rs2152673311
|
|
NM_002397.5(MEF2C):c.399G>T (p.Leu133Phe)
|
rs2152673081
|
|
NM_002397.5(MEF2C):c.3G>C (p.Met1Ile)
|
rs1554150607
|
|
NM_002397.5(MEF2C):c.402+145A>G
|
rs1777617806
|
|
NM_002397.5(MEF2C):c.40G>A (p.Glu14Lys)
|
|
|
NM_002397.5(MEF2C):c.413C>A (p.Pro138His)
|
|
|
NM_002397.5(MEF2C):c.43C>G (p.Arg15Gly)
|
|
|
NM_002397.5(MEF2C):c.446T>C (p.Val149Ala)
|
rs1057349061
|
|
NM_002397.5(MEF2C):c.44G>A (p.Arg15His)
|
rs1202957297
|
|
NM_002397.5(MEF2C):c.461G>T (p.Ser154Ile)
|
|
|
NM_002397.5(MEF2C):c.478C>T (p.Pro160Ser)
|
rs1772995609
|
|
NM_002397.5(MEF2C):c.511C>T (p.Pro171Ser)
|
|
|
NM_002397.5(MEF2C):c.517G>A (p.Ala173Thr)
|
|
|
NM_002397.5(MEF2C):c.53A>G (p.Gln18Arg)
|
|
|
NM_002397.5(MEF2C):c.54+5G>A
|
|
|
NM_002397.5(MEF2C):c.54+6T>C
|
|
|
NM_002397.5(MEF2C):c.541A>G (p.Ser181Gly)
|
|
|
NM_002397.5(MEF2C):c.576T>A (p.Ser192Arg)
|
rs1772929062
|
|
NM_002397.5(MEF2C):c.579A>G (p.Ala193=)
|
|
|
NM_002397.5(MEF2C):c.583A>G (p.Asn195Asp)
|
|
|
NM_002397.5(MEF2C):c.589+6T>A
|
rs1370610061
|
|
NM_002397.5(MEF2C):c.58A>G (p.Thr20Ala)
|
rs1554139870
|
|
NM_002397.5(MEF2C):c.592G>A (p.Gly198Ser)
|
rs1029856807
|
|
NM_002397.5(MEF2C):c.595C>G (p.Leu199Val)
|
|
|
NM_002397.5(MEF2C):c.59C>T (p.Thr20Ile)
|
rs2153075088
|
|
NM_002397.5(MEF2C):c.614C>T (p.Thr205Met)
|
|
|
NM_002397.5(MEF2C):c.614_626delinsGTCTCCAC (p.Thr205fs)
|
rs1554110298
|
|
NM_002397.5(MEF2C):c.626_627insTCTCCAC (p.Thr210fs)
|
rs2152497336
|
|
NM_002397.5(MEF2C):c.655C>A (p.Pro219Thr)
|
|
|
NM_002397.5(MEF2C):c.656C>T (p.Pro219Leu)
|
rs1761821562
|
|
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter)
|
rs1761818173
|
|
NM_002397.5(MEF2C):c.664T>C (p.Ser222Pro)
|
|
|
NM_002397.5(MEF2C):c.685C>A (p.Pro229Thr)
|
|
|
NM_002397.5(MEF2C):c.685C>T (p.Pro229Ser)
|
|
|
NM_002397.5(MEF2C):c.724C>G (p.Pro242Ala)
|
|
|
NM_002397.5(MEF2C):c.746A>G (p.Asn249Ser)
|
|
|
NM_002397.5(MEF2C):c.751C>T (p.Arg251Cys)
|
rs1761787183
|
|
NM_002397.5(MEF2C):c.767G>A (p.Arg256Gln)
|
rs1761775496
|
|
NM_002397.5(MEF2C):c.769G>C (p.Val257Leu)
|
|
|
NM_002397.5(MEF2C):c.775A>G (p.Ile259Val)
|
|
|
NM_002397.5(MEF2C):c.788G>T (p.Ser263Ile)
|
rs2152279598
|
|
NM_002397.5(MEF2C):c.811-5C>G
|
rs1760866808
|
|
NM_002397.5(MEF2C):c.823G>C (p.Asp275His)
|
|
|
NM_002397.5(MEF2C):c.892G>A (p.Val298Ile)
|
|
|
NM_002397.5(MEF2C):c.919G>C (p.Gly307Arg)
|
|
|
NM_002397.5(MEF2C):c.91A>G (p.Lys31Glu)
|
|
|
NM_002397.5(MEF2C):c.940G>T (p.Ala314Ser)
|
|
|
NM_002397.5(MEF2C):c.992C>T (p.Ser331Leu)
|
|
|
NM_002487.3(NDN):c.212A>G (p.Gln71Arg)
|
rs1891161078
|
|
NM_002487.3(NDN):c.472dup (p.Thr158fs)
|
rs1891151702
|
|
NM_002487.3(NDN):c.533G>A (p.Arg178Lys)
|
rs1555376130
|
|
NM_002487.3(NDN):c.871C>A (p.Pro291Thr)
|
rs2140756886
|
|
NM_002655.3(PLAG1):c.758dup (p.Phe254fs)
|
rs2129224472
|
|
NM_003483.6(HMGA2):c.111+6T>A
|
|
|
NM_003836.7(DLK1):c.103G>C (p.Gly35Arg)
|
rs762558665
|
|
NM_004237.4(TRIP13):c.1016T>C (p.Met339Thr)
|
|
|
NM_004237.4(TRIP13):c.759+1G>T
|
|
|
NM_004654.4(USP9Y):c.3835C>G (p.Leu1279Val)
|
|
|
NM_004654.4(USP9Y):c.5924C>T (p.Thr1975Ile)
|
|
|
NM_004654.4(USP9Y):c.6343G>T (p.Gly2115Cys)
|
|
|
NM_004715.5(CTDP1):c.1023A>G (p.Arg341=)
|
|
|
NM_004715.5(CTDP1):c.1915A>G (p.Ile639Val)
|
|
|
NM_004715.5(CTDP1):c.398A>G (p.Gln133Arg)
|
|
|
NM_004933.3(CDH15):c.160G>T (p.Val54Leu)
|
|
|
NM_005068.3(SIM1):c.*1447TG[4]
|
rs886060892
|
|
NM_005068.3(SIM1):c.-200del
|
rs146022425
|
|
NM_005411.5(SFTPA1):c.292G>A (p.Gly98Arg)
|
rs1589239722
|
|
NM_005573.4(LMNB1):c.*189T>G
|
rs1752249694
|
|
NM_005573.4(LMNB1):c.*629G>A
|
rs761208282
|
|
NM_005573.4(LMNB1):c.*629G>C
|
rs761208282
|
|
NM_005573.4(LMNB1):c.*631G>A
|
rs569902214
|
|
NM_005573.4(LMNB1):c.*634A>G
|
rs1382551348
|
|
NM_005573.4(LMNB1):c.-159C>G
|
rs886059857
|
|
NM_005573.4(LMNB1):c.-76G>T
|
rs1371898314
|
|
NM_005573.4(LMNB1):c.1387-3T>C
|
rs886059859
|
|
NM_005573.4(LMNB1):c.227C>T (p.Thr76Ile)
|
|
|
NM_005573.4(LMNB1):c.889C>T (p.Arg297Cys)
|
|
|
NM_005573.4(LMNB1):c.916C>T (p.Gln306Ter)
|
|
|
NM_005573.4(LMNB1):c.987T>C (p.Ala329=)
|
rs1751792373
|
|
NM_005634.3(SOX3):c.64C>G (p.Arg22Gly)
|
|
|
NM_006940.6(SOX5):c.1017G>A (p.Gln339=)
|
rs2138723102
|
|
NM_006940.6(SOX5):c.1050G>C (p.Gln350His)
|
rs1566239985
|
|
NM_006940.6(SOX5):c.1075G>A (p.Gly359Ser)
|
rs754590341
|
|
NM_006940.6(SOX5):c.1280G>A (p.Gly427Asp)
|
|
|
NM_006940.6(SOX5):c.1280G>T (p.Gly427Val)
|
rs780885506
|
|
NM_006940.6(SOX5):c.1292C>T (p.Ala431Val)
|
|
|
NM_006940.6(SOX5):c.1303G>T (p.Ala435Ser)
|
|
|
NM_006940.6(SOX5):c.1343-4733C>T
|
rs1947477250
|
|
NM_006940.6(SOX5):c.1411C>T (p.Arg471Ter)
|
rs1592099852
|
|
NM_006940.6(SOX5):c.1856A>G (p.Lys619Arg)
|
rs1341736288
|
|
NM_006940.6(SOX5):c.1864G>A (p.Asp622Asn)
|
|
|
NM_006940.6(SOX5):c.211T>C (p.Ser71Pro)
|
rs2097171827
|
|
NM_006940.6(SOX5):c.2149G>A (p.Gly717Arg)
|
|
|
NM_006940.6(SOX5):c.2283A>C (p.Gln761His)
|
|
|
NM_006940.6(SOX5):c.251C>T (p.Thr84Ile)
|
rs772035716
|
|
NM_006940.6(SOX5):c.291del (p.Met98fs)
|
|
|
NM_006940.6(SOX5):c.347G>C (p.Gly116Ala)
|
|
|
NM_006940.6(SOX5):c.353G>T (p.Arg118Leu)
|
rs1217393451
|
|
NM_006940.6(SOX5):c.576C>T (p.Pro192=)
|
|
|
NM_006940.6(SOX5):c.5T>G (p.Leu2Arg)
|
|
|
NM_006940.6(SOX5):c.616A>G (p.Ile206Val)
|
rs2093775713
|
|
NM_006940.6(SOX5):c.693T>G (p.Ile231Met)
|
|
|
NM_006940.6(SOX5):c.798G>T (p.Gln266His)
|
rs2093521806
|
|
NM_006940.6(SOX5):c.913A>G (p.Ser305Gly)
|
|
|
NM_006940.6(SOX5):c.914G>A (p.Ser305Asn)
|
|
|
NM_006940.6(SOX5):c.988A>G (p.Thr330Ala)
|
rs1224542564
|
|
NM_012318.3(LETM1):c.1261A>T (p.Met421Leu)
|
rs1711880083
|
|
NM_014679.5(CEP57):c.1000A>G (p.Lys334Glu)
|
rs2135373567
|
|
NM_014679.5(CEP57):c.1003C>G (p.Gln335Glu)
|
|
|
NM_014679.5(CEP57):c.1021G>A (p.Gly341Ser)
|
rs1862818339
|
|
NM_014679.5(CEP57):c.1028G>C (p.Ser343Thr)
|
rs527528444
|
|
NM_014679.5(CEP57):c.1045A>C (p.Thr349Pro)
|
rs759919170
|
|
NM_014679.5(CEP57):c.1058C>T (p.Ser353Phe)
|
rs1555053893
|
|
NM_014679.5(CEP57):c.1063G>A (p.Gly355Ser)
|
rs202115720
|
|
NM_014679.5(CEP57):c.1068T>G (p.Ile356Met)
|
|
|
NM_014679.5(CEP57):c.1075G>A (p.Glu359Lys)
|
rs781248377
|
|
NM_014679.5(CEP57):c.1075_1076delinsTT (p.Glu359Leu)
|
rs1862823036
|
|
NM_014679.5(CEP57):c.1099T>A (p.Leu367Ile)
|
rs759922227
|
|
NM_014679.5(CEP57):c.1127+3G>A
|
rs2135374408
|
|
NM_014679.5(CEP57):c.1127+5G>A
|
|
|
NM_014679.5(CEP57):c.1128T>C (p.Phe376=)
|
|
|
NM_014679.5(CEP57):c.1147A>G (p.Lys383Glu)
|
|
|
NM_014679.5(CEP57):c.1163C>T (p.Ser388Leu)
|
rs778871999
|
|
NM_014679.5(CEP57):c.1165C>G (p.Pro389Ala)
|
|
|
NM_014679.5(CEP57):c.1165C>T (p.Pro389Ser)
|
rs1590960094
|
|
NM_014679.5(CEP57):c.1187A>G (p.Lys396Arg)
|
rs2135378752
|
|
NM_014679.5(CEP57):c.11C>G (p.Ala4Gly)
|
rs563708574
|
|
NM_014679.5(CEP57):c.1208C>T (p.Ala403Val)
|
rs898167932
|
|
NM_014679.5(CEP57):c.1212A>C (p.Leu404Phe)
|
rs1414836328
|
|
NM_014679.5(CEP57):c.1220G>A (p.Arg407Lys)
|
rs1862894107
|
|
NM_014679.5(CEP57):c.1231A>G (p.Lys411Glu)
|
rs2135378928
|
|
NM_014679.5(CEP57):c.1234G>A (p.Ala412Thr)
|
|
|
NM_014679.5(CEP57):c.1255C>T (p.Arg419Ter)
|
|
|
NM_014679.5(CEP57):c.1263C>A (p.Tyr421Ter)
|
|
|
NM_014679.5(CEP57):c.1267G>A (p.Ala423Thr)
|
|
|
NM_014679.5(CEP57):c.1273-7G>A
|
rs1328841524
|
|
NM_014679.5(CEP57):c.1281_1295del (p.425LEKQK[1])
|
rs767882667
|
|
NM_014679.5(CEP57):c.1282C>G (p.Gln428Glu)
|
rs2135383836
|
|
NM_014679.5(CEP57):c.1286dup (p.Leu430fs)
|
rs1862984152
|
|
NM_014679.5(CEP57):c.1294A>G (p.Lys432Glu)
|
rs550796220
|
|
NM_014679.5(CEP57):c.1296G>C (p.Lys432Asn)
|
|
|
NM_014679.5(CEP57):c.1297_1305del (p.Gln433_Lys435del)
|
rs761197192
|
|
NM_014679.5(CEP57):c.1301A>C (p.Lys434Thr)
|
|
|
NM_014679.5(CEP57):c.131C>T (p.Pro44Leu)
|
rs2135259624
|
|
NM_014679.5(CEP57):c.1325del (p.Lys442fs)
|
|
|
NM_014679.5(CEP57):c.1331T>C (p.Leu444Pro)
|
|
|
NM_014679.5(CEP57):c.1334A>G (p.Asp445Gly)
|
rs748485985
|
|
NM_014679.5(CEP57):c.1339G>A (p.Glu447Lys)
|
rs756553344
|
|
NM_014679.5(CEP57):c.1342_1362del (p.Arg448_Ser454del)
|
|
|
NM_014679.5(CEP57):c.1357C>G (p.Arg453Gly)
|
rs1395763725
|
|
NM_014679.5(CEP57):c.1357_1362del (p.Arg453_Ser454del)
|
|
|
NM_014679.5(CEP57):c.1358G>A (p.Arg453His)
|
|
|
NM_014679.5(CEP57):c.1363G>A (p.Gly455Arg)
|
|
|
NM_014679.5(CEP57):c.1364G>A (p.Gly455Glu)
|
rs1565336775
|
|
NM_014679.5(CEP57):c.1387A>G (p.Lys463Glu)
|
|
|
NM_014679.5(CEP57):c.1396A>G (p.Met466Val)
|
|
|
NM_014679.5(CEP57):c.1406G>A (p.Arg469Lys)
|
|
|
NM_014679.5(CEP57):c.1421_1430del (p.Arg474fs)
|
rs1477051347
|
|
NM_014679.5(CEP57):c.142A>T (p.Ser48Cys)
|
|
|
NM_014679.5(CEP57):c.1430dup (p.Asn477fs)
|
|
|
NM_014679.5(CEP57):c.1433T>A (p.Leu478His)
|
rs1862992904
|
|
NM_014679.5(CEP57):c.1450A>C (p.Met484Leu)
|
rs930693151
|
|
NM_014679.5(CEP57):c.1453C>A (p.Gln485Lys)
|
rs1862993704
|
|
NM_014679.5(CEP57):c.1459A>G (p.Ile487Val)
|
|
|
NM_014679.5(CEP57):c.1463A>G (p.Gln488Arg)
|
|
|
NM_014679.5(CEP57):c.1466A>G (p.Asn489Ser)
|
rs1050934936
|
|
NM_014679.5(CEP57):c.1484G>A (p.Ser495Asn)
|
rs753006983
|
|
NM_014679.5(CEP57):c.148C>A (p.Leu50Ile)
|
|
|
NM_014679.5(CEP57):c.152G>T (p.Arg51Leu)
|
|
|
NM_014679.5(CEP57):c.163A>G (p.Ser55Gly)
|
|
|
NM_014679.5(CEP57):c.185C>T (p.Pro62Leu)
|
rs2135260052
|
|
NM_014679.5(CEP57):c.191G>A (p.Ser64Asn)
|
|
|
NM_014679.5(CEP57):c.195C>T (p.Asn65=)
|
|
|
NM_014679.5(CEP57):c.202+6C>T
|
rs1185295732
|
|
NM_014679.5(CEP57):c.205A>G (p.Ile69Val)
|
rs1862131344
|
|
NM_014679.5(CEP57):c.207A>G (p.Ile69Met)
|
|
|
NM_014679.5(CEP57):c.20C>T (p.Ser7Phe)
|
|
|
NM_014679.5(CEP57):c.215C>T (p.Ala72Val)
|
|
|
NM_014679.5(CEP57):c.217C>T (p.Leu73Phe)
|
rs1862131809
|
|
NM_014679.5(CEP57):c.256G>C (p.Glu86Gln)
|
|
|
NM_014679.5(CEP57):c.263T>C (p.Ile88Thr)
|
rs1862134368
|
|
NM_014679.5(CEP57):c.274G>A (p.Glu92Lys)
|
|
|
NM_014679.5(CEP57):c.274G>C (p.Glu92Gln)
|
|
|
NM_014679.5(CEP57):c.292T>C (p.Ser98Pro)
|
rs1862135682
|
|
NM_014679.5(CEP57):c.297A>T (p.Arg99Ser)
|
|
|
NM_014679.5(CEP57):c.29C>T (p.Ser10Phe)
|
rs752283181
|
|
NM_014679.5(CEP57):c.305T>C (p.Ile102Thr)
|
|
|
NM_014679.5(CEP57):c.32G>T (p.Gly11Val)
|
rs2135220118
|
|
NM_014679.5(CEP57):c.335T>A (p.Ile112Lys)
|
rs1296533991
|
|
NM_014679.5(CEP57):c.341A>G (p.Glu114Gly)
|
|
|
NM_014679.5(CEP57):c.341A>T (p.Glu114Val)
|
|
|
NM_014679.5(CEP57):c.347A>G (p.Glu116Gly)
|
rs2135318947
|
|
NM_014679.5(CEP57):c.35C>T (p.Ser12Phe)
|
|
|
NM_014679.5(CEP57):c.365A>C (p.Glu122Ala)
|
rs758749076
|
|
NM_014679.5(CEP57):c.378T>A (p.Asn126Lys)
|
rs1233148579
|
|
NM_014679.5(CEP57):c.381A>C (p.Gln127His)
|
|
|
NM_014679.5(CEP57):c.382+6T>C
|
|
|
NM_014679.5(CEP57):c.391T>A (p.Ser131Thr)
|
|
|
NM_014679.5(CEP57):c.39C>G (p.His13Gln)
|
rs531068389
|
|
NM_014679.5(CEP57):c.402A>C (p.Leu134Phe)
|
|
|
NM_014679.5(CEP57):c.413A>G (p.Asn138Ser)
|
|
|
NM_014679.5(CEP57):c.421A>C (p.Asn141His)
|
|
|
NM_014679.5(CEP57):c.422A>T (p.Asn141Ile)
|
|
|
NM_014679.5(CEP57):c.424C>A (p.Leu142Ile)
|
|
|
NM_014679.5(CEP57):c.448A>T (p.Met150Leu)
|
rs1392775846
|
|
NM_014679.5(CEP57):c.44C>T (p.Ser15Leu)
|
|
|
NM_014679.5(CEP57):c.45+11_45+12insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGCAG
|
|
|
NM_014679.5(CEP57):c.461T>C (p.Ile154Thr)
|
rs889087291
|
|
NM_014679.5(CEP57):c.486A>G (p.Thr162=)
|
rs2135321587
|
|
NM_014679.5(CEP57):c.487T>C (p.Ser163Pro)
|
|
|
NM_014679.5(CEP57):c.48C>A (p.Asn16Lys)
|
|
|
NM_014679.5(CEP57):c.499A>G (p.Lys167Glu)
|
|
|
NM_014679.5(CEP57):c.4G>A (p.Ala2Thr)
|
rs878854985
|
|
NM_014679.5(CEP57):c.502C>A (p.Gln168Lys)
|
rs1241266950
|
|
NM_014679.5(CEP57):c.503A>T (p.Gln168Leu)
|
rs1433730979
|
|
NM_014679.5(CEP57):c.504+3A>G
|
|
|
NM_014679.5(CEP57):c.504+4A>G
|
|
|
NM_014679.5(CEP57):c.504+5G>A
|
rs1252981393
|
|
NM_014679.5(CEP57):c.504+6T>G
|
|
|
NM_014679.5(CEP57):c.505-9_505-6del
|
rs1565326346
|
|
NM_014679.5(CEP57):c.505G>A (p.Val169Ile)
|
|
|
NM_014679.5(CEP57):c.50G>C (p.Ser17Thr)
|
rs1565311619
|
|
NM_014679.5(CEP57):c.515A>G (p.Glu172Gly)
|
rs2135337872
|
|
NM_014679.5(CEP57):c.520G>C (p.Glu174Gln)
|
rs1060501986
|
|
NM_014679.5(CEP57):c.526C>G (p.Gln176Glu)
|
|
|
NM_014679.5(CEP57):c.542A>G (p.His181Arg)
|
rs1862363329
|
|
NM_014679.5(CEP57):c.544G>A (p.Val182Ile)
|
rs2135338078
|
|
NM_014679.5(CEP57):c.545T>A (p.Val182Asp)
|
|
|
NM_014679.5(CEP57):c.552C>A (p.Ser184Arg)
|
rs765801435
|
|
NM_014679.5(CEP57):c.559G>A (p.Glu187Lys)
|
rs1862364446
|
|
NM_014679.5(CEP57):c.568G>A (p.Asp190Asn)
|
|
|
NM_014679.5(CEP57):c.56C>G (p.Ala19Gly)
|
|
|
NM_014679.5(CEP57):c.575T>C (p.Leu192Pro)
|
rs1862365071
|
|
NM_014679.5(CEP57):c.599C>A (p.Thr200Asn)
|
rs757212650
|
|
NM_014679.5(CEP57):c.599C>T (p.Thr200Ile)
|
|
|
NM_014679.5(CEP57):c.601A>G (p.Thr201Ala)
|
rs2135338342
|
|
NM_014679.5(CEP57):c.605T>A (p.Met202Lys)
|
|
|
NM_014679.5(CEP57):c.61C>T (p.Pro21Ser)
|
|
|
NM_014679.5(CEP57):c.621+13G>A
|
|
|
NM_014679.5(CEP57):c.621+8C>T
|
|
|
NM_014679.5(CEP57):c.621+9A>G
|
rs1472625294
|
|
NM_014679.5(CEP57):c.626A>C (p.Lys209Thr)
|
rs1862408972
|
|
NM_014679.5(CEP57):c.628A>T (p.Met210Leu)
|
rs374700509
|
|
NM_014679.5(CEP57):c.652C>T (p.His218Tyr)
|
|
|
NM_014679.5(CEP57):c.680T>C (p.Met227Thr)
|
rs1338577560
|
|
NM_014679.5(CEP57):c.684A>C (p.Gln228His)
|
rs2135342248
|
|
NM_014679.5(CEP57):c.698A>T (p.Glu233Val)
|
|
|
NM_014679.5(CEP57):c.69G>T (p.Arg23Ser)
|
|
|
NM_014679.5(CEP57):c.704A>G (p.Gln235Arg)
|
rs2135351781
|
|
NM_014679.5(CEP57):c.707C>A (p.Thr236Asn)
|
|
|
NM_014679.5(CEP57):c.718A>G (p.Thr240Ala)
|
|
|
NM_014679.5(CEP57):c.723T>G (p.Asn241Lys)
|
rs76411609
|
|
NM_014679.5(CEP57):c.742A>G (p.Lys248Glu)
|
rs2135352017
|
|
NM_014679.5(CEP57):c.746C>T (p.Ala249Val)
|
rs1862532841
|
|
NM_014679.5(CEP57):c.755G>T (p.Cys252Phe)
|
|
|
NM_014679.5(CEP57):c.763A>T (p.Asn255Tyr)
|
|
|
NM_014679.5(CEP57):c.767C>T (p.Ala256Val)
|
rs2135352101
|
|
NM_014679.5(CEP57):c.781A>G (p.Lys261Glu)
|
|
|
NM_014679.5(CEP57):c.784A>C (p.Lys262Gln)
|
|
|
NM_014679.5(CEP57):c.787A>C (p.Lys263Gln)
|
rs1555052344
|
|
NM_014679.5(CEP57):c.808-11_808-7del
|
|
|
NM_014679.5(CEP57):c.812G>C (p.Ser271Thr)
|
|
|
NM_014679.5(CEP57):c.81C>A (p.Ser27Arg)
|
|
|
NM_014679.5(CEP57):c.821A>G (p.Asn274Ser)
|
rs2135354357
|
|
NM_014679.5(CEP57):c.832G>A (p.Ala278Thr)
|
|
|
NM_014679.5(CEP57):c.833C>T (p.Ala278Val)
|
rs1862559102
|
|
NM_014679.5(CEP57):c.836_838del (p.Gln279del)
|
rs1379170788
|
|
NM_014679.5(CEP57):c.841C>T (p.His281Tyr)
|
rs1862559486
|
|
NM_014679.5(CEP57):c.846T>C (p.Tyr282=)
|
rs775590763
|
|
NM_014679.5(CEP57):c.858G>T (p.Leu286Phe)
|
rs1308139720
|
|
NM_014679.5(CEP57):c.862G>A (p.Asp288Asn)
|
|
|
NM_014679.5(CEP57):c.866T>C (p.Met289Thr)
|
|
|
NM_014679.5(CEP57):c.86T>G (p.Val29Gly)
|
|
|
NM_014679.5(CEP57):c.880G>A (p.Gly294Arg)
|
rs2135354636
|
|
NM_014679.5(CEP57):c.88C>T (p.Arg30Trp)
|
rs749693319
|
|
NM_014679.5(CEP57):c.896C>A (p.Pro299His)
|
rs776778777
|
|
NM_014679.5(CEP57):c.89G>C (p.Arg30Pro)
|
rs577173144
|
|
NM_014679.5(CEP57):c.8C>T (p.Ala3Val)
|
rs1351785176
|
|
NM_014679.5(CEP57):c.905C>A (p.Ala302Asp)
|
|
|
NM_014679.5(CEP57):c.908T>C (p.Val303Ala)
|
|
|
NM_014679.5(CEP57):c.911T>C (p.Val304Ala)
|
|
|
NM_014679.5(CEP57):c.923A>G (p.Gln308Arg)
|
rs2135373107
|
|
NM_014679.5(CEP57):c.952A>G (p.Ser318Gly)
|
|
|
NM_014679.5(CEP57):c.974G>A (p.Arg325Gln)
|
rs1047306549
|
|
NM_014679.5(CEP57):c.974G>C (p.Arg325Pro)
|
|
|
NM_014679.5(CEP57):c.983A>G (p.Asn328Ser)
|
|
|
NM_014679.5(CEP57):c.998C>T (p.Ala333Val)
|
|
|
NM_015570.4(AUTS2):c.3169G>A (p.Gly1057Ser)
|
rs1057522609
|
|
NM_016111.4(TELO2):c.1382C>T (p.Thr461Met)
|
rs199748546
|
|
NM_016111.4(TELO2):c.1476T>G (p.Asp492Glu)
|
rs2039707751
|
|
NM_016111.4(TELO2):c.2002C>T (p.Arg668Trp)
|
|
|
NM_016111.4(TELO2):c.2449G>A (p.Ala817Thr)
|
rs2040070431
|
|
NM_016111.4(TELO2):c.340A>C (p.Ser114Arg)
|
|
|
NM_016111.4(TELO2):c.490C>T (p.Pro164Ser)
|
|
|
NM_016111.4(TELO2):c.925C>T (p.Arg309Trp)
|
|
|
NM_016111.4(TELO2):c.967G>C (p.Ala323Pro)
|
rs750187494
|
|
NM_016628.5(WAC):c.1012A>G (p.Thr338Ala)
|
|
|
NM_016628.5(WAC):c.1295C>T (p.Pro432Leu)
|
|
|
NM_016628.5(WAC):c.1549C>T (p.Arg517Cys)
|
|
|
NM_016628.5(WAC):c.1558A>G (p.Ser520Gly)
|
|
|
NM_016628.5(WAC):c.1597A>G (p.Asn533Asp)
|
rs1841460217
|
|
NM_016628.5(WAC):c.1865G>A (p.Arg622Gln)
|
|
|
NM_016628.5(WAC):c.1877T>A (p.Ile626Lys)
|
|
|
NM_016628.5(WAC):c.275-22319G>T
|
rs2132485043
|
|
NM_016628.5(WAC):c.381+4_381+7del
|
rs1564400647
|
|
NM_016628.5(WAC):c.460G>A (p.Val154Ile)
|
rs2132669331
|
|
NM_016628.5(WAC):c.469T>C (p.Trp157Arg)
|
|
|
NM_016628.5(WAC):c.665C>A (p.Ser222Tyr)
|
|
|
NM_018328.4:c.-925+35305_-557+13791del
|
|
|
NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTG
|
rs886048180
|
|
NM_019040.5(ELP4):c.*2049A>G
|
rs886048181
|
|
NM_019040.5(ELP4):c.*2282G>A
|
rs886048182
|
|
NM_019040.5(ELP4):c.*2334T>G
|
rs886048183
|
|
NM_019040.5(ELP4):c.*2407C>A
|
rs886048184
|
|
NM_019040.5(ELP4):c.*2710CA[2]
|
rs886048186
|
|
NM_019040.5(ELP4):c.*3703_*3705del
|
rs886048189
|
|
NM_019040.5(ELP4):c.*3978T>C
|
rs886048192
|
|
NM_019040.5(ELP4):c.*4017A>G
|
rs886048193
|
|
NM_019040.5(ELP4):c.*4025C>G
|
rs886048195
|
|
NM_019066.5(MAGEL2):c.1051G>A (p.Val351Ile)
|
|
|
NM_019066.5(MAGEL2):c.1112C>T (p.Thr371Ile)
|
|
|
NM_019066.5(MAGEL2):c.113G>A (p.Arg38Gln)
|
|
|
NM_019066.5(MAGEL2):c.1171A>T (p.Thr391Ser)
|
|
|
NM_019066.5(MAGEL2):c.1188G>A (p.Trp396Ter)
|
rs1890410630
|
|
NM_019066.5(MAGEL2):c.1248C>T (p.Ile416=)
|
|
|
NM_019066.5(MAGEL2):c.1249C>T (p.Arg417Cys)
|
|
|
NM_019066.5(MAGEL2):c.1262C>G (p.Pro421Arg)
|
rs2140716697
|
|
NM_019066.5(MAGEL2):c.1276G>A (p.Gly426Ser)
|
rs1890407784
|
|
NM_019066.5(MAGEL2):c.1298C>A (p.Ala433Asp)
|
|
|
NM_019066.5(MAGEL2):c.1321C>T (p.Pro441Ser)
|
|
|
NM_019066.5(MAGEL2):c.1430C>G (p.Pro477Arg)
|
|
|
NM_019066.5(MAGEL2):c.1445C>T (p.Ala482Val)
|
rs2140716042
|
|
NM_019066.5(MAGEL2):c.16A>G (p.Lys6Glu)
|
|
|
NM_019066.5(MAGEL2):c.1715C>T (p.Ala572Val)
|
rs1064797195
|
|
NM_019066.5(MAGEL2):c.1742A>C (p.His581Pro)
|
|
|
NM_019066.5(MAGEL2):c.1766C>A (p.Ala589Asp)
|
|
|
NM_019066.5(MAGEL2):c.1772A>G (p.Lys591Arg)
|
|
|
NM_019066.5(MAGEL2):c.1784C>T (p.Pro595Leu)
|
|
|
NM_019066.5(MAGEL2):c.1895C>A (p.Ala632Asp)
|
|
|
NM_019066.5(MAGEL2):c.1963T>C (p.Ser655Pro)
|
|
|
NM_019066.5(MAGEL2):c.1972G>A (p.Ala658Thr)
|
rs1890385864
|
|
NM_019066.5(MAGEL2):c.1991C>T (p.Pro664Leu)
|
rs201935129
|
|
NM_019066.5(MAGEL2):c.2107G>C (p.Ala703Pro)
|
|
|
NM_019066.5(MAGEL2):c.2119C>T (p.Pro707Ser)
|
|
|
NM_019066.5(MAGEL2):c.2120C>T (p.Pro707Leu)
|
|
|
NM_019066.5(MAGEL2):c.2147C>T (p.Thr716Ile)
|
|
|
NM_019066.5(MAGEL2):c.2170_2232dup (p.Ser724_Ala744dup)
|
rs1566784117
|
|
NM_019066.5(MAGEL2):c.220G>C (p.Ala74Pro)
|
|
|
NM_019066.5(MAGEL2):c.2212_2232dup (p.Ser738_Ala744dup)
|
rs768384701
|
|
NM_019066.5(MAGEL2):c.2296C>G (p.Arg766Gly)
|
|
|
NM_019066.5(MAGEL2):c.2572A>T (p.Thr858Ser)
|
rs1343066533
|
|
NM_019066.5(MAGEL2):c.2587C>A (p.Gln863Lys)
|
|
|
NM_019066.5(MAGEL2):c.2701C>T (p.His901Tyr)
|
|
|
NM_019066.5(MAGEL2):c.272C>T (p.Pro91Leu)
|
|
|
NM_019066.5(MAGEL2):c.2745G>T (p.Glu915Asp)
|
|
|
NM_019066.5(MAGEL2):c.2746A>G (p.Asn916Asp)
|
rs2140713261
|
|
NM_019066.5(MAGEL2):c.2839G>C (p.Glu947Gln)
|
rs1890360315
|
|
NM_019066.5(MAGEL2):c.293_294delinsAT (p.Pro98His)
|
|
|
NM_019066.5(MAGEL2):c.3035T>A (p.Val1012Glu)
|
|
|
NM_019066.5(MAGEL2):c.3131C>T (p.Ser1044Leu)
|
rs1267004913
|
|
NM_019066.5(MAGEL2):c.3257C>A (p.Ala1086Asp)
|
|
|
NM_019066.5(MAGEL2):c.3384G>C (p.Arg1128Ser)
|
rs1357977229
|
|
NM_019066.5(MAGEL2):c.353C>T (p.Pro118Leu)
|
rs1131691985
|
|
NM_019066.5(MAGEL2):c.3633C>A (p.Ser1211Arg)
|
|
|
NM_019066.5(MAGEL2):c.3661G>A (p.Ala1221Thr)
|
rs779840896
|
|
NM_019066.5(MAGEL2):c.3720C>A (p.His1240Gln)
|
|
|
NM_019066.5(MAGEL2):c.3727A>G (p.Thr1243Ala)
|
|
|
NM_019066.5(MAGEL2):c.451C>A (p.His151Asn)
|
|
|
NM_019066.5(MAGEL2):c.465G>A (p.Pro155=)
|
|
|
NM_019066.5(MAGEL2):c.48G>T (p.Glu16Asp)
|
rs2140719597
|
|
NM_019066.5(MAGEL2):c.509_510delinsTG (p.Ala170Val)
|
rs2140718561
|
|
NM_019066.5(MAGEL2):c.539_568del (p.Val180_Met189del)
|
rs779748148
|
|
NM_019066.5(MAGEL2):c.623C>A (p.Pro208Gln)
|
|
|
NM_019066.5(MAGEL2):c.626T>C (p.Met209Thr)
|
|
|
NM_019066.5(MAGEL2):c.877G>A (p.Gly293Ser)
|
rs983547801
|
|
NM_019066.5(MAGEL2):c.959C>T (p.Ala320Val)
|
|
|
NM_019066.5(MAGEL2):c.992C>T (p.Pro331Leu)
|
|
|
NM_022039.4(FBXW4):c.*381C>G
|
rs2063775084
|
|
NM_022039.4(FBXW4):c.1170G>T (p.Gly390=)
|
rs2064322238
|
|
NM_022039.4(FBXW4):c.1302-9C>T
|
rs771930157
|
|
NM_022039.4(FBXW4):c.1473C>T (p.His491=)
|
rs147424741
|
|
NM_022039.4(FBXW4):c.316G>T (p.Ala106Ser)
|
rs2064658916
|
|
NM_022039.4(FBXW4):c.409A>G (p.Arg137Gly)
|
rs886046645
|
|
NM_022039.4(FBXW4):c.437G>A (p.Trp146Ter)
|
rs886046644
|
|
NM_022039.4(FBXW4):c.493G>A (p.Glu165Lys)
|
rs886046643
|
|
NM_022039.4(FBXW4):c.507G>A (p.Ala169=)
|
rs1404824736
|
|
NM_022039.4(FBXW4):c.715G>A (p.Gly239Ser)
|
rs759941552
|
|
NM_022039.4(FBXW4):c.923G>A (p.Arg308His)
|
rs771654851
|
|
NM_022455.5(NSD1):c.*216CCAA[1]
|
rs886060444
|
|
NM_022455.5(NSD1):c.*4609_*4611del
|
rs60995782
|
|
NM_022455.5(NSD1):c.*4610_*4611del
|
rs60995782
|
|
NM_022455.5(NSD1):c.*4610_*4611dup
|
rs60995782
|
|
NM_022455.5(NSD1):c.*4611dup
|
rs60995782
|
|
NM_022455.5(NSD1):c.*4612del
|
rs886060465
|
|
NM_022455.5(NSD1):c.*565del
|
rs886060446
|
|
NM_022455.5(NSD1):c.*839dup
|
rs886060447
|
|
NM_022455.5(NSD1):c.1028C>G (p.Ser343Cys)
|
rs1761727286
|
|
NM_022455.5(NSD1):c.1078C>G (p.Pro360Ala)
|
|
|
NM_022455.5(NSD1):c.1105T>C (p.Phe369Leu)
|
rs1762710997
|
|
NM_022455.5(NSD1):c.1129T>C (p.Trp377Arg)
|
rs1762711811
|
|
NM_022455.5(NSD1):c.1159G>C (p.Glu387Gln)
|
rs1374361789
|
|
NM_022455.5(NSD1):c.1171C>G (p.Gln391Glu)
|
|
|
NM_022455.5(NSD1):c.1249A>T (p.Ile417Phe)
|
|
|
NM_022455.5(NSD1):c.1286A>G (p.Glu429Gly)
|
|
|
NM_022455.5(NSD1):c.1288C>G (p.Gln430Glu)
|
rs367809750
|
|
NM_022455.5(NSD1):c.1291T>C (p.Tyr431His)
|
rs1763178149
|
|
NM_022455.5(NSD1):c.1325G>A (p.Cys442Tyr)
|
rs1763180633
|
|
NM_022455.5(NSD1):c.1325G>C (p.Cys442Ser)
|
|
|
NM_022455.5(NSD1):c.1333G>C (p.Gly445Arg)
|
rs757392008
|
|
NM_022455.5(NSD1):c.1363A>G (p.Met455Val)
|
rs546116718
|
|
NM_022455.5(NSD1):c.1367C>T (p.Pro456Leu)
|
rs775730406
|
|
NM_022455.5(NSD1):c.1382C>T (p.Thr461Ile)
|
rs776330654
|
|
NM_022455.5(NSD1):c.1414C>T (p.Leu472Phe)
|
rs371775975
|
|
NM_022455.5(NSD1):c.1428G>A (p.Leu476=)
|
rs587784072
|
|
NM_022455.5(NSD1):c.145C>T (p.Gln49Ter)
|
rs1336273625
|
|
NM_022455.5(NSD1):c.1487A>G (p.Lys496Arg)
|
|
|
NM_022455.5(NSD1):c.1606A>C (p.Asn536His)
|
rs1554188985
|
|
NM_022455.5(NSD1):c.1607A>G (p.Asn536Ser)
|
|
|
NM_022455.5(NSD1):c.1664C>T (p.Ala555Val)
|
rs925398929
|
|
NM_022455.5(NSD1):c.1687A>C (p.Thr563Pro)
|
rs1763212012
|
|
NM_022455.5(NSD1):c.1699A>G (p.Ser567Gly)
|
|
|
NM_022455.5(NSD1):c.1729A>T (p.Thr577Ser)
|
rs370153971
|
|
NM_022455.5(NSD1):c.1744T>G (p.Phe582Val)
|
|
|
NM_022455.5(NSD1):c.1760G>C (p.Gly587Ala)
|
|
|
NM_022455.5(NSD1):c.1786G>C (p.Gly596Arg)
|
|
|
NM_022455.5(NSD1):c.1814A>G (p.Glu605Gly)
|
|
|
NM_022455.5(NSD1):c.1820A>G (p.Asn607Ser)
|
rs1265667423
|
|
NM_022455.5(NSD1):c.1843T>G (p.Cys615Gly)
|
|
|
NM_022455.5(NSD1):c.1871T>C (p.Ile624Thr)
|
|
|
NM_022455.5(NSD1):c.1879G>A (p.Gly627Ser)
|
rs1449506408
|
|
NM_022455.5(NSD1):c.1906A>G (p.Ile636Val)
|
rs1410310481
|
|
NM_022455.5(NSD1):c.1921A>G (p.Thr641Ala)
|
rs1763234813
|
|
NM_022455.5(NSD1):c.199T>A (p.Ser67Thr)
|
|
|
NM_022455.5(NSD1):c.2008G>A (p.Asp670Asn)
|
rs1554189230
|
|
NM_022455.5(NSD1):c.2025G>A (p.Met675Ile)
|
|
|
NM_022455.5(NSD1):c.2051T>G (p.Ile684Arg)
|
rs1281302772
|
|
NM_022455.5(NSD1):c.2077A>G (p.Asn693Asp)
|
rs773782115
|
|
NM_022455.5(NSD1):c.2083A>G (p.Arg695Gly)
|
rs1581318727
|
|
NM_022455.5(NSD1):c.2215_2217del (p.Val739del)
|
rs1763260903
|
|
NM_022455.5(NSD1):c.2231C>T (p.Ser744Leu)
|
rs1581319591
|
|
NM_022455.5(NSD1):c.2240C>T (p.Thr747Ile)
|
|
|
NM_022455.5(NSD1):c.2267A>T (p.Asn756Ile)
|
rs139085502
|
|
NM_022455.5(NSD1):c.2279G>C (p.Ser760Thr)
|
rs1763266375
|
|
NM_022455.5(NSD1):c.2290G>C (p.Glu764Gln)
|
|
|
NM_022455.5(NSD1):c.2300TAA[1] (p.Ile768del)
|
|
|
NM_022455.5(NSD1):c.2308G>A (p.Gly770Ser)
|
|
|
NM_022455.5(NSD1):c.2352_2353delinsAA (p.Pro785Thr)
|
rs1763273634
|
|
NM_022455.5(NSD1):c.2362C>G (p.Arg788Gly)
|
|
|
NM_022455.5(NSD1):c.2416A>G (p.Ile806Val)
|
rs1562208925
|
|
NM_022455.5(NSD1):c.2428T>C (p.Cys810Arg)
|
|
|
NM_022455.5(NSD1):c.2429G>T (p.Cys810Phe)
|
rs1763281290
|
|
NM_022455.5(NSD1):c.243G>C (p.Met81Ile)
|
rs886042530
|
|
NM_022455.5(NSD1):c.2564C>T (p.Ala855Val)
|
rs2149845759
|
|
NM_022455.5(NSD1):c.2742G>T (p.Leu914Phe)
|
|
|
NM_022455.5(NSD1):c.2800G>A (p.Val934Ile)
|
|
|
NM_022455.5(NSD1):c.2834C>A (p.Ser945Tyr)
|
rs2095343853
|
|
NM_022455.5(NSD1):c.2912G>A (p.Gly971Asp)
|
rs371226812
|
|
NM_022455.5(NSD1):c.2944G>T (p.Gly982Trp)
|
rs587784091
|
|
NM_022455.5(NSD1):c.2963C>T (p.Ser988Phe)
|
rs1465577289
|
|
NM_022455.5(NSD1):c.29G>A (p.Arg10Lys)
|
rs1581089074
|
|
NM_022455.5(NSD1):c.3002A>G (p.Asp1001Gly)
|
|
|
NM_022455.5(NSD1):c.3014T>G (p.Leu1005Arg)
|
|
|
NM_022455.5(NSD1):c.3029A>G (p.Lys1010Arg)
|
|
|
NM_022455.5(NSD1):c.3089_3090delinsCT (p.Leu1030Ser)
|
|
|
NM_022455.5(NSD1):c.3114G>T (p.Met1038Ile)
|
rs1581324163
|
|
NM_022455.5(NSD1):c.3238G>A (p.Gly1080Ser)
|
|
|
NM_022455.5(NSD1):c.3275A>G (p.Gln1092Arg)
|
|
|
NM_022455.5(NSD1):c.3331G>T (p.Asp1111Tyr)
|
rs151165525
|
|
NM_022455.5(NSD1):c.3335G>A (p.Ser1112Asn)
|
|
|
NM_022455.5(NSD1):c.3344A>G (p.Lys1115Arg)
|
|
|
NM_022455.5(NSD1):c.334G>T (p.Val112Phe)
|
rs1756231832
|
|
NM_022455.5(NSD1):c.340A>C (p.Thr114Pro)
|
rs749444972
|
|
NM_022455.5(NSD1):c.3418G>A (p.Val1140Ile)
|
rs1763367854
|
|
NM_022455.5(NSD1):c.3438T>G (p.Asp1146Glu)
|
rs1180409864
|
|
NM_022455.5(NSD1):c.3440A>G (p.Glu1147Gly)
|
|
|
NM_022455.5(NSD1):c.3473A>G (p.Lys1158Arg)
|
|
|
NM_022455.5(NSD1):c.3525C>G (p.Asn1175Lys)
|
|
|
NM_022455.5(NSD1):c.353C>T (p.Pro118Leu)
|
|
|
NM_022455.5(NSD1):c.3556_3557delinsAT (p.Ala1186Ile)
|
rs797044760
|
|
NM_022455.5(NSD1):c.3577A>G (p.Ser1193Gly)
|
|
|
NM_022455.5(NSD1):c.3578G>A (p.Ser1193Asn)
|
|
|
NM_022455.5(NSD1):c.3649C>A (p.Pro1217Thr)
|
rs372004424
|
|
NM_022455.5(NSD1):c.3682G>C (p.Asp1228His)
|
rs1161564727
|
|
NM_022455.5(NSD1):c.3757A>G (p.Ile1253Val)
|
rs1581327291
|
|
NM_022455.5(NSD1):c.3813G>T (p.Lys1271Asn)
|
|
|
NM_022455.5(NSD1):c.3837G>T (p.Lys1279Asn)
|
|
|
NM_022455.5(NSD1):c.3869A>C (p.Gln1290Pro)
|
rs1562242250
|
|
NM_022455.5(NSD1):c.3922-9T>A
|
|
|
NM_022455.5(NSD1):c.3949C>G (p.Leu1317Val)
|
|
|
NM_022455.5(NSD1):c.3965G>C (p.Arg1322Pro)
|
rs750684515
|
|
NM_022455.5(NSD1):c.3992A>G (p.Asp1331Gly)
|
rs587784108
|
|
NM_022455.5(NSD1):c.3994G>C (p.Glu1332Gln)
|
|
|
NM_022455.5(NSD1):c.4091G>T (p.Gly1364Val)
|
rs1554195876
|
|
NM_022455.5(NSD1):c.4118T>C (p.Leu1373Ser)
|
rs1554195885
|
|
NM_022455.5(NSD1):c.417G>A (p.Gln139=)
|
|
|
NM_022455.5(NSD1):c.4205G>A (p.Ser1402Asn)
|
|
|
NM_022455.5(NSD1):c.4259C>G (p.Pro1420Arg)
|
|
|
NM_022455.5(NSD1):c.4273A>C (p.Lys1425Gln)
|
|
|
NM_022455.5(NSD1):c.4301A>G (p.Lys1434Arg)
|
|
|
NM_022455.5(NSD1):c.4302+3A>T
|
|
|
NM_022455.5(NSD1):c.4306T>C (p.Tyr1436His)
|
rs1435199225
|
|
NM_022455.5(NSD1):c.4363A>G (p.Lys1455Glu)
|
rs587784113
|
|
NM_022455.5(NSD1):c.4378+7A>G
|
rs587784116
|
|
NM_022455.5(NSD1):c.4398C>G (p.Asp1466Glu)
|
|
|
NM_022455.5(NSD1):c.4403C>T (p.Pro1468Leu)
|
|
|
NM_022455.5(NSD1):c.4428T>A (p.His1476Gln)
|
rs1581430053
|
|
NM_022455.5(NSD1):c.4459A>G (p.Lys1487Glu)
|
|
|
NM_022455.5(NSD1):c.4521_4522delinsTT (p.Ala1508Ser)
|
rs1766449552
|
|
NM_022455.5(NSD1):c.4523C>A (p.Ala1508Asp)
|
rs1766450095
|
|
NM_022455.5(NSD1):c.4546G>C (p.Glu1516Gln)
|
rs2149899575
|
|
NM_022455.5(NSD1):c.4552G>A (p.Gly1518Ser)
|
|
|
NM_022455.5(NSD1):c.4561C>A (p.His1521Asn)
|
rs1401885898
|
|
NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr)
|
rs201483724
|
|
NM_022455.5(NSD1):c.4574T>C (p.Met1525Thr)
|
rs1060501491
|
|
NM_022455.5(NSD1):c.4583C>T (p.Ser1528Phe)
|
rs1581433960
|
|
NM_022455.5(NSD1):c.4591A>G (p.Met1531Val)
|
|
|
NM_022455.5(NSD1):c.4604G>A (p.Arg1535His)
|
|
|
NM_022455.5(NSD1):c.4645T>G (p.Cys1549Gly)
|
rs1562259810
|
|
NM_022455.5(NSD1):c.4709G>C (p.Cys1570Ser)
|
rs1755989003
|
|
NM_022455.5(NSD1):c.4732A>G (p.Arg1578Gly)
|
rs2149904592
|
|
NM_022455.5(NSD1):c.4764A>G (p.Thr1588=)
|
|
|
NM_022455.5(NSD1):c.4766-2A>C
|
|
|
NM_022455.5(NSD1):c.4777T>A (p.Cys1593Ser)
|
rs1060501495
|
|
NM_022455.5(NSD1):c.4786T>A (p.Cys1596Ser)
|
rs1554199383
|
|
NM_022455.5(NSD1):c.4843T>A (p.Tyr1615Asn)
|
rs1756521704
|
|
NM_022455.5(NSD1):c.4856G>A (p.Cys1619Tyr)
|
rs1554199411
|
|
NM_022455.5(NSD1):c.4865A>G (p.Lys1622Arg)
|
|
|
NM_022455.5(NSD1):c.4912C>T (p.His1638Tyr)
|
rs1064796568
|
|
NM_022455.5(NSD1):c.4946C>G (p.Ala1649Gly)
|
|
|
NM_022455.5(NSD1):c.4961C>G (p.Ser1654Cys)
|
|
|
NM_022455.5(NSD1):c.4970G>A (p.Arg1657Gln)
|
rs1756860552
|
|
NM_022455.5(NSD1):c.4988G>A (p.Arg1663His)
|
rs1562269357
|
|
NM_022455.5(NSD1):c.5007C>G (p.His1669Gln)
|
rs146414176
|
|
NM_022455.5(NSD1):c.5033G>C (p.Gly1678Ala)
|
|
|
NM_022455.5(NSD1):c.5066G>T (p.Cys1689Phe)
|
rs1756866850
|
|
NM_022455.5(NSD1):c.5069C>G (p.Pro1690Arg)
|
rs1554200207
|
|
NM_022455.5(NSD1):c.5120T>A (p.Val1707Asp)
|
rs2149918094
|
|
NM_022455.5(NSD1):c.5121T>C (p.Val1707=)
|
rs1756870315
|
|
NM_022455.5(NSD1):c.5146+2dup
|
rs1581468671
|
|
NM_022455.5(NSD1):c.5154C>G (p.Ser1718Arg)
|
rs1043343803
|
|
NM_022455.5(NSD1):c.5180C>A (p.Ala1727Asp)
|
|
|
NM_022455.5(NSD1):c.524C>T (p.Thr175Ile)
|
rs1554167548
|
|
NM_022455.5(NSD1):c.5273A>G (p.Glu1758Gly)
|
rs1581491894
|
|
NM_022455.5(NSD1):c.5281T>C (p.Trp1761Arg)
|
rs1060501489
|
|
NM_022455.5(NSD1):c.5289A>T (p.Lys1763Asn)
|
rs1135401952
|
|
NM_022455.5(NSD1):c.529G>A (p.Asp177Asn)
|
|
|
NM_022455.5(NSD1):c.5310G>C (p.Trp1770Cys)
|
rs1060501496
|
|
NM_022455.5(NSD1):c.5408A>G (p.Asp1803Gly)
|
rs2149934442
|
|
NM_022455.5(NSD1):c.5462G>A (p.Ser1821Asn)
|
rs1757805156
|
|
NM_022455.5(NSD1):c.5549C>T (p.Ala1850Val)
|
rs2127241862
|
|
NM_022455.5(NSD1):c.557A>T (p.Glu186Val)
|
rs1756255240
|
|
NM_022455.5(NSD1):c.5612A>G (p.Lys1871Arg)
|
|
|
NM_022455.5(NSD1):c.569A>T (p.Asn190Ile)
|
|
|
NM_022455.5(NSD1):c.56C>T (p.Pro19Leu)
|
rs1756207246
|
|
NM_022455.5(NSD1):c.5710C>A (p.Pro1904Thr)
|
|
|
NM_022455.5(NSD1):c.5714G>A (p.Cys1905Tyr)
|
rs1554204110
|
|
NM_022455.5(NSD1):c.5714G>C (p.Cys1905Ser)
|
rs1554204110
|
|
NM_022455.5(NSD1):c.5757G>T (p.Glu1919Asp)
|
rs528069420
|
|
NM_022455.5(NSD1):c.5774G>A (p.Cys1925Tyr)
|
rs1758804006
|
|
NM_022455.5(NSD1):c.5779G>C (p.Ala1927Pro)
|
rs1554204128
|
|
NM_022455.5(NSD1):c.5789G>A (p.Arg1930His)
|
rs1391504793
|
|
NM_022455.5(NSD1):c.5799C>A (p.Asn1933Lys)
|
rs1758806559
|
|
NM_022455.5(NSD1):c.5809T>C (p.Ser1937Pro)
|
rs587784159
|
|
NM_022455.5(NSD1):c.58G>T (p.Val20Leu)
|
rs377302741
|
|
NM_022455.5(NSD1):c.5975A>G (p.Asp1992Gly)
|
|
|
NM_022455.5(NSD1):c.6009+3A>C
|
rs2127261070
|
|
NM_022455.5(NSD1):c.6026C>T (p.Ala2009Val)
|
rs1581535417
|
|
NM_022455.5(NSD1):c.6037G>A (p.Gly2013Arg)
|
rs2127262871
|
|
NM_022455.5(NSD1):c.6063T>A (p.His2021Gln)
|
|
|
NM_022455.5(NSD1):c.6107_6109dup (p.Gly2036_Asp2037insGly)
|
rs1554204958
|
|
NM_022455.5(NSD1):c.6115C>T (p.Arg2039Cys)
|
rs2127263139
|
|
NM_022455.5(NSD1):c.6128T>C (p.Phe2043Ser)
|
rs2127263182
|
|
NM_022455.5(NSD1):c.6152-14G>A
|
rs587784182
|
|
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys)
|
rs398124380
|
|
NM_022455.5(NSD1):c.6176A>G (p.Asn2059Ser)
|
|
|
NM_022455.5(NSD1):c.6200A>T (p.Lys2067Met)
|
rs1759549616
|
|
NM_022455.5(NSD1):c.6258G>T (p.Lys2086Asn)
|
rs1581548127
|
|
NM_022455.5(NSD1):c.6370T>G (p.Cys2124Gly)
|
rs1562305665
|
|
NM_022455.5(NSD1):c.6397T>C (p.Cys2133Arg)
|
|
|
NM_022455.5(NSD1):c.6413G>A (p.Cys2138Tyr)
|
rs587784195
|
|
NM_022455.5(NSD1):c.6413G>C (p.Cys2138Ser)
|
rs587784195
|
|
NM_022455.5(NSD1):c.641C>T (p.Thr214Ile)
|
rs1208967470
|
|
NM_022455.5(NSD1):c.6454C>G (p.Arg2152Gly)
|
rs587784199
|
|
NM_022455.5(NSD1):c.6463G>A (p.Gly2155Arg)
|
rs1554206845
|
|
NM_022455.5(NSD1):c.6464-1G>A
|
rs1760055914
|
|
NM_022455.5(NSD1):c.649_650del (p.Glu216_Ser217insTer)
|
rs1562098870
|
|
NM_022455.5(NSD1):c.6500G>A (p.Cys2167Tyr)
|
rs587784205
|
|
NM_022455.5(NSD1):c.6504_6512del (p.Lys2169_Ala2171del)
|
|
|
NM_022455.5(NSD1):c.6524G>A (p.Cys2175Tyr)
|
rs1581562963
|
|
NM_022455.5(NSD1):c.6542C>A (p.Ser2181Tyr)
|
|
|
NM_022455.5(NSD1):c.658_666del (p.Gly220_Val222del)
|
rs1756266305
|
|
NM_022455.5(NSD1):c.661G>T (p.Ala221Ser)
|
|
|
NM_022455.5(NSD1):c.6620C>T (p.Pro2207Leu)
|
|
|
NM_022455.5(NSD1):c.6625G>T (p.Gly2209Trp)
|
rs1760067330
|
|
NM_022455.5(NSD1):c.6632A>G (p.Asn2211Ser)
|
rs2127279586
|
|
NM_022455.5(NSD1):c.6637C>G (p.Leu2213Val)
|
rs587784212
|
|
NM_022455.5(NSD1):c.6640G>A (p.Glu2214Lys)
|
rs587784213
|
|
NM_022455.5(NSD1):c.6654C>G (p.Ile2218Met)
|
|
|
NM_022455.5(NSD1):c.6674C>A (p.Pro2225Gln)
|
rs755013078
|
|
NM_022455.5(NSD1):c.6683_6684delinsCT (p.Leu2228Pro)
|
rs1760072488
|
|
NM_022455.5(NSD1):c.6733G>A (p.Ala2245Thr)
|
|
|
NM_022455.5(NSD1):c.6753A>G (p.Ser2251=)
|
rs587784215
|
|
NM_022455.5(NSD1):c.6760CCT[1] (p.Pro2255del)
|
|
|
NM_022455.5(NSD1):c.6836C>T (p.Pro2279Leu)
|
|
|
NM_022455.5(NSD1):c.6871_6873delinsTAT (p.Gln2291Tyr)
|
rs2127280285
|
|
NM_022455.5(NSD1):c.6889A>G (p.Arg2297Gly)
|
|
|
NM_022455.5(NSD1):c.6905C>T (p.Ser2302Leu)
|
|
|
NM_022455.5(NSD1):c.6920A>C (p.Gln2307Pro)
|
rs2127280443
|
|
NM_022455.5(NSD1):c.6971G>C (p.Gly2324Ala)
|
|
|
NM_022455.5(NSD1):c.7016C>T (p.Pro2339Leu)
|
rs1581564675
|
|
NM_022455.5(NSD1):c.7022C>T (p.Ser2341Phe)
|
rs1319472971
|
|
NM_022455.5(NSD1):c.709A>G (p.Lys237Glu)
|
rs1756273326
|
|
NM_022455.5(NSD1):c.7144A>G (p.Thr2382Ala)
|
rs765876148
|
|
NM_022455.5(NSD1):c.7159C>G (p.Pro2387Ala)
|
rs1416255762
|
|
NM_022455.5(NSD1):c.7220C>G (p.Thr2407Ser)
|
|
|
NM_022455.5(NSD1):c.7321C>G (p.Pro2441Ala)
|
|
|
NM_022455.5(NSD1):c.7352G>C (p.Arg2451Thr)
|
rs200115665
|
|
NM_022455.5(NSD1):c.7454T>C (p.Val2485Ala)
|
|
|
NM_022455.5(NSD1):c.750AGC[1] (p.Ala252del)
|
rs398124385
|
|
NM_022455.5(NSD1):c.7510G>A (p.Val2504Ile)
|
rs1005975383
|
|
NM_022455.5(NSD1):c.7554AGC[2] (p.Ala2521del)
|
|
|
NM_022455.5(NSD1):c.7595C>T (p.Ser2532Leu)
|
|
|
NM_022455.5(NSD1):c.7615C>G (p.Leu2539Val)
|
rs1760151289
|
|
NM_022455.5(NSD1):c.7648G>A (p.Glu2550Lys)
|
rs1180593710
|
|
NM_022455.5(NSD1):c.7663G>A (p.Ala2555Thr)
|
rs1450153384
|
|
NM_022455.5(NSD1):c.7669G>A (p.Gly2557Arg)
|
|
|
NM_022455.5(NSD1):c.7675G>A (p.Ala2559Thr)
|
|
|
NM_022455.5(NSD1):c.769C>T (p.Pro257Ser)
|
rs1756280868
|
|
NM_022455.5(NSD1):c.7700C>G (p.Pro2567Arg)
|
|
|
NM_022455.5(NSD1):c.7706C>G (p.Pro2569Arg)
|
|
|
NM_022455.5(NSD1):c.7748del (p.Met2583fs)
|
rs1562311573
|
|
NM_022455.5(NSD1):c.7768C>G (p.Pro2590Ala)
|
|
|
NM_022455.5(NSD1):c.7778C>A (p.Ala2593Asp)
|
|
|
NM_022455.5(NSD1):c.7889C>A (p.Ala2630Asp)
|
|
|
NM_022455.5(NSD1):c.788_789del (p.Thr263fs)
|
rs1756282703
|
|
NM_022455.5(NSD1):c.7922C>T (p.Ala2641Val)
|
rs1371700950
|
|
NM_022455.5(NSD1):c.793A>G (p.Ile265Val)
|
rs771587260
|
|
NM_022455.5(NSD1):c.8018C>G (p.Pro2673Arg)
|
rs1554208207
|
|
NM_022455.5(NSD1):c.805G>A (p.Glu269Lys)
|
rs751787444
|
|
NM_022455.5(NSD1):c.890G>C (p.Gly297Ala)
|
rs1709968423
|
|
NM_022455.5(NSD1):c.922C>G (p.Pro308Ala)
|
|
|
NM_022455.5(NSD1):c.934C>T (p.Pro312Ser)
|
|
|
NM_022455.5(NSD1):c.97G>A (p.Gly33Ser)
|
|
|
NM_024426.6(WT1):c.*1021GT[14]
|
rs58549495
|
|
NM_024426.6(WT1):c.*1021GT[15]
|
rs58549495
|
|
NM_024426.6(WT1):c.*1021GT[18]
|
rs58549495
|
|
NM_024426.6(WT1):c.*1021GT[19]
|
rs58549495
|
|
NM_024426.6(WT1):c.*1021GT[20]
|
rs58549495
|
|
NM_024426.6(WT1):c.*1058G>T
|
rs886048211
|
|
NM_024426.6(WT1):c.*269G>T
|
rs886048225
|
|
NM_024426.6(WT1):c.*354G>T
|
rs886048224
|
|
NM_024426.6(WT1):c.*366C>A
|
rs886048223
|
|
NM_024426.6(WT1):c.*393G>T
|
rs886048222
|
|
NM_024426.6(WT1):c.*685G>T
|
rs886048218
|
|
NM_024426.6(WT1):c.*707C>A
|
rs886048217
|
|
NM_024426.6(WT1):c.*741G>T
|
rs886048216
|
|
NM_024426.6(WT1):c.*768A>C
|
rs886048215
|
|
NM_024426.6(WT1):c.*841C>A
|
rs886048213
|
|
NM_024426.6(WT1):c.-31G>T
|
rs886048234
|
|
NM_024426.6(WT1):c.-82A>C
|
rs886048236
|
|
NM_024426.6(WT1):c.-86T>C
|
rs886048237
|
|
NM_024426.6(WT1):c.-90T>C
|
rs886048238
|
|
NM_024426.6(WT1):c.-94G>C
|
rs886048239
|
|
NM_024426.6(WT1):c.1000A>G (p.Thr334Ala)
|
|
|
NM_024426.6(WT1):c.1004A>G (p.Glu335Gly)
|
rs2133032382
|
|
NM_024426.6(WT1):c.1012A>C (p.Ser338Arg)
|
rs1852674776
|
|
NM_024426.6(WT1):c.1012A>G (p.Ser338Gly)
|
rs1852674776
|
|
NM_024426.6(WT1):c.1015A>G (p.Asn339Asp)
|
rs1852674511
|
|
NM_024426.6(WT1):c.1016+6T>C
|
|
|
NM_024426.6(WT1):c.1016A>G (p.Asn339Ser)
|
|
|
NM_024426.6(WT1):c.1017-1G>A
|
rs868047507
|
|
NM_024426.6(WT1):c.1017-2A>G
|
|
|
NM_024426.6(WT1):c.1017-3C>T
|
rs1554940545
|
|
NM_024426.6(WT1):c.1017C>G (p.Asn339Lys)
|
|
|
NM_024426.6(WT1):c.1020_1021delinsAC (p.His340_Ser341delinsGlnArg)
|
rs1564975891
|
|
NM_024426.6(WT1):c.1022G>A (p.Ser341Asn)
|
rs371021920
|
|
NM_024426.6(WT1):c.1028G>A (p.Gly343Glu)
|
rs2132959011
|
|
NM_024426.6(WT1):c.1031A>G (p.Tyr344Cys)
|
rs1852103005
|
|
NM_024426.6(WT1):c.1035_1036delinsAT (p.Ser346Cys)
|
rs2132958801
|
|
NM_024426.6(WT1):c.1038C>G (p.Ser346Arg)
|
rs750018485
|
|
NM_024426.6(WT1):c.1039G>A (p.Asp347Asn)
|
rs267602851
|
|
NM_024426.6(WT1):c.1043A>G (p.Asn348Ser)
|
|
|
NM_024426.6(WT1):c.1049C>G (p.Thr350Arg)
|
|
|
NM_024426.6(WT1):c.1049C>T (p.Thr350Ile)
|
|
|
NM_024426.6(WT1):c.1051A>G (p.Thr351Ala)
|
rs2132958406
|
|
NM_024426.6(WT1):c.1052C>A (p.Thr351Lys)
|
|
|
NM_024426.6(WT1):c.1052C>T (p.Thr351Met)
|
rs761627098
|
|
NM_024426.6(WT1):c.1054C>G (p.Pro352Ala)
|
|
|
NM_024426.6(WT1):c.1057A>G (p.Ile353Val)
|
rs1554940527
|
|
NM_024426.6(WT1):c.105G>T (p.Gln35His)
|
|
|
NM_024426.6(WT1):c.1060C>T (p.Leu354Phe)
|
|
|
NM_024426.6(WT1):c.1067G>A (p.Gly356Glu)
|
rs760654956
|
|
NM_024426.6(WT1):c.1069G>A (p.Ala357Thr)
|
|
|
NM_024426.6(WT1):c.1070C>A (p.Ala357Asp)
|
|
|
NM_024426.6(WT1):c.1072C>G (p.Gln358Glu)
|
rs771117558
|
|
NM_024426.6(WT1):c.1073A>G (p.Gln358Arg)
|
rs1554940518
|
|
NM_024426.6(WT1):c.1078A>G (p.Arg360Gly)
|
rs1852099254
|
|
NM_024426.6(WT1):c.107A>T (p.Gln36Leu)
|
|
|
NM_024426.6(WT1):c.1082T>C (p.Ile361Thr)
|
rs2132957665
|
|
NM_024426.6(WT1):c.1086C>G (p.His362Gln)
|
rs1421853816
|
|
NM_024426.6(WT1):c.1087A>T (p.Thr363Ser)
|
|
|
NM_024426.6(WT1):c.1088C>A (p.Thr363Lys)
|
|
|
NM_024426.6(WT1):c.1088C>G (p.Thr363Arg)
|
rs1852098454
|
|
NM_024426.6(WT1):c.1088C>T (p.Thr363Met)
|
|
|
NM_024426.6(WT1):c.1089_1090delinsAA (p.His364Asn)
|
rs2132957418
|
|
NM_024426.6(WT1):c.1093G>A (p.Gly365Ser)
|
|
|
NM_024426.6(WT1):c.1093G>C (p.Gly365Arg)
|
|
|
NM_024426.6(WT1):c.1108A>T (p.Ile370Phe)
|
|
|
NM_024426.6(WT1):c.1109T>G (p.Ile370Ser)
|
rs1852096499
|
|
NM_024426.6(WT1):c.110G>A (p.Gly37Glu)
|
|
|
NM_024426.6(WT1):c.110G>C (p.Gly37Ala)
|
rs1853477982
|
|
NM_024426.6(WT1):c.1112A>G (p.Gln371Arg)
|
rs1852096219
|
|
NM_024426.6(WT1):c.1113+3G>A
|
|
|
NM_024426.6(WT1):c.1113+5G>C
|
rs930795675
|
|
NM_024426.6(WT1):c.1114G>C (p.Asp372His)
|
|
|
NM_024426.6(WT1):c.1120C>G (p.Arg374Gly)
|
|
|
NM_024426.6(WT1):c.1121_1122delinsAG (p.Arg374Gln)
|
rs2132942126
|
|
NM_024426.6(WT1):c.1122_1123inv (p.Arg375Cys)
|
|
|
NM_024426.6(WT1):c.1122_1124delinsGTA (p.Arg375Tyr)
|
|
|
NM_024426.6(WT1):c.1124G>C (p.Arg375Pro)
|
rs554416372
|
|
NM_024426.6(WT1):c.1124G>T (p.Arg375Leu)
|
rs554416372
|
|
NM_024426.6(WT1):c.1126G>A (p.Val376Met)
|
|
|
NM_024426.6(WT1):c.1127T>C (p.Val376Ala)
|
rs1180529775
|
|
NM_024426.6(WT1):c.1129C>T (p.Pro377Ser)
|
|
|
NM_024426.6(WT1):c.112G>A (p.Val38Ile)
|
|
|
NM_024426.6(WT1):c.112G>T (p.Val38Phe)
|
rs1229949294
|
|
NM_024426.6(WT1):c.1130C>A (p.Pro377His)
|
rs1590339111
|
|
NM_024426.6(WT1):c.1139C>A (p.Ala380Asp)
|
rs2132941654
|
|
NM_024426.6(WT1):c.1139C>T (p.Ala380Val)
|
rs2132941654
|
|
NM_024426.6(WT1):c.1141C>G (p.Pro381Ala)
|
|
|
NM_024426.6(WT1):c.1141C>T (p.Pro381Ser)
|
|
|
NM_024426.6(WT1):c.1143_1151dup (p.Val384_Arg385insThrLeuVal)
|
|
|
NM_024426.6(WT1):c.1144A>G (p.Thr382Ala)
|
rs1851973152
|
|
NM_024426.6(WT1):c.1145C>T (p.Thr382Ile)
|
rs2132941453
|
|
NM_024426.6(WT1):c.1154G>C (p.Arg385Pro)
|
rs147241955
|
|
NM_024426.6(WT1):c.1154G>T (p.Arg385Leu)
|
rs147241955
|
|
NM_024426.6(WT1):c.1157C>T (p.Ser386Leu)
|
|
|
NM_024426.6(WT1):c.1159G>A (p.Ala387Thr)
|
rs1412336417
|
|
NM_024426.6(WT1):c.1162T>C (p.Ser388Pro)
|
rs992930804
|
|
NM_024426.6(WT1):c.1163C>G (p.Ser388Cys)
|
|
|
NM_024426.6(WT1):c.1168A>G (p.Thr390Ala)
|
|
|
NM_024426.6(WT1):c.116G>C (p.Arg39Pro)
|
|
|
NM_024426.6(WT1):c.1173T>A (p.Ser391Arg)
|
|
|
NM_024426.6(WT1):c.1173T>G (p.Ser391Arg)
|
|
|
NM_024426.6(WT1):c.1174G>A (p.Glu392Lys)
|
rs1851970123
|
|
NM_024426.6(WT1):c.1180C>T (p.Arg394Cys)
|
rs1564972874
|
|
NM_024426.6(WT1):c.1183C>A (p.Pro395Thr)
|
rs267602850
|
|
NM_024426.6(WT1):c.1184C>T (p.Pro395Leu)
|
rs1851969544
|
|
NM_024426.6(WT1):c.1188C>A (p.Phe396Leu)
|
rs200539928
|
|
NM_024426.6(WT1):c.1189A>G (p.Met397Val)
|
|
|
NM_024426.6(WT1):c.118G>C (p.Asp40His)
|
rs1853477193
|
|
NM_024426.6(WT1):c.118del (p.Asp40fs)
|
rs2133107122
|
|
NM_024426.6(WT1):c.1190T>C (p.Met397Thr)
|
rs2132940385
|
|
NM_024426.6(WT1):c.1190T>G (p.Met397Arg)
|
|
|
NM_024426.6(WT1):c.1191G>A (p.Met397Ile)
|
rs2132940348
|
|
NM_024426.6(WT1):c.1192T>A (p.Cys398Ser)
|
rs2132940315
|
|
NM_024426.6(WT1):c.1196C>G (p.Ala399Gly)
|
rs1590338798
|
|
NM_024426.6(WT1):c.1196C>T (p.Ala399Val)
|
rs1590338798
|
|
NM_024426.6(WT1):c.119A>C (p.Asp40Ala)
|
|
|
NM_024426.6(WT1):c.1202C>A (p.Pro401Gln)
|
|
|
NM_024426.6(WT1):c.1211A>G (p.Asn404Ser)
|
rs748864758
|
|
NM_024426.6(WT1):c.1217G>A (p.Arg406Lys)
|
rs1851967853
|
|
NM_024426.6(WT1):c.1218A>C (p.Arg406Ser)
|
rs1554939793
|
|
NM_024426.6(WT1):c.1219T>C (p.Tyr407His)
|
|
|
NM_024426.6(WT1):c.121C>G (p.Pro41Ala)
|
rs926668379
|
|
NM_024426.6(WT1):c.1249A>G (p.Ser417Gly)
|
|
|
NM_024426.6(WT1):c.1261A>G (p.Thr421Ala)
|
|
|
NM_024426.6(WT1):c.1261A>T (p.Thr421Ser)
|
|
|
NM_024426.6(WT1):c.1262C>G (p.Thr421Ser)
|
|
|
NM_024426.6(WT1):c.1264+3A>G
|
|
|
NM_024426.6(WT1):c.1264+6T>A
|
rs1366602349
|
|
NM_024426.6(WT1):c.1265-18A>G
|
|
|
NM_024426.6(WT1):c.1274C>G (p.Pro425Arg)
|
rs2132921474
|
|
NM_024426.6(WT1):c.127G>A (p.Gly43Ser)
|
|
|
NM_024426.6(WT1):c.127G>C (p.Gly43Arg)
|
|
|
NM_024426.6(WT1):c.127G>T (p.Gly43Cys)
|
rs1166553415
|
|
NM_024426.6(WT1):c.1280A>C (p.Gln427Pro)
|
rs1358408901
|
|
NM_024426.6(WT1):c.1285G>A (p.Asp429Asn)
|
|
|
NM_024426.6(WT1):c.1289T>G (p.Phe430Cys)
|
|
|
NM_024426.6(WT1):c.128G>T (p.Gly43Val)
|
|
|
NM_024426.6(WT1):c.1307G>A (p.Arg436Lys)
|
rs2132920559
|
|
NM_024426.6(WT1):c.1313C>G (p.Ser438Cys)
|
rs2132920415
|
|
NM_024426.6(WT1):c.1331A>G (p.Lys444Arg)
|
rs1851852482
|
|
NM_024426.6(WT1):c.133T>G (p.Trp45Gly)
|
rs1186470250
|
|
NM_024426.6(WT1):c.1341A>C (p.Gln447His)
|
rs772822466
|
|
NM_024426.6(WT1):c.1344G>C (p.Arg448Ser)
|
|
|
NM_024426.6(WT1):c.1351A>T (p.Thr451Ser)
|
|
|
NM_024426.6(WT1):c.136G>A (p.Ala46Thr)
|
rs886048233
|
|
NM_024426.6(WT1):c.136G>T (p.Ala46Ser)
|
rs886048233
|
|
NM_024426.6(WT1):c.1373G>C (p.Cys458Ser)
|
rs2132915129
|
|
NM_024426.6(WT1):c.1376A>G (p.Lys459Arg)
|
rs1851834162
|
|
NM_024426.6(WT1):c.1379C>A (p.Thr460Asn)
|
|
|
NM_024426.6(WT1):c.1379C>T (p.Thr460Ile)
|
|
|
NM_024426.6(WT1):c.1388G>A (p.Arg463Gln)
|
rs1037084691
|
|
NM_024426.6(WT1):c.1408C>T (p.His470Tyr)
|
rs1554939072
|
|
NM_024426.6(WT1):c.1424C>T (p.Thr475Ile)
|
|
|
NM_024426.6(WT1):c.1433A>T (p.His478Leu)
|
|
|
NM_024426.6(WT1):c.143T>C (p.Leu48Ser)
|
rs1565002394
|
|
NM_024426.6(WT1):c.143T>G (p.Leu48Ter)
|
|
|
NM_024426.6(WT1):c.1447+3G>A
|
rs2132913499
|
|
NM_024426.6(WT1):c.1448-3C>A
|
rs904330511
|
|
NM_024426.6(WT1):c.1448-3C>T
|
|
|
NM_024426.6(WT1):c.1448-6C>G
|
|
|
NM_024426.6(WT1):c.1463G>A (p.Ser488Asn)
|
rs267602849
|
|
NM_024426.6(WT1):c.1468C>T (p.Arg490Trp)
|
rs1315549918
|
|
NM_024426.6(WT1):c.1474C>T (p.Pro492Ser)
|
rs761360324
|
|
NM_024426.6(WT1):c.1477A>C (p.Ser493Arg)
|
rs776256676
|
|
NM_024426.6(WT1):c.1478G>A (p.Ser493Asn)
|
rs763551837
|
|
NM_024426.6(WT1):c.1485G>T (p.Gln495His)
|
|
|
NM_024426.6(WT1):c.1496C>G (p.Ala499Gly)
|
rs2132898997
|
|
NM_024426.6(WT1):c.1505A>G (p.Asp502Gly)
|
|
|
NM_024426.6(WT1):c.150del (p.Ala51fs)
|
rs2133106747
|
|
NM_024426.6(WT1):c.1510T>G (p.Leu504Val)
|
|
|
NM_024426.6(WT1):c.1513G>A (p.Val505Ile)
|
|
|
NM_024426.6(WT1):c.1516C>T (p.Arg506Cys)
|
|
|
NM_024426.6(WT1):c.1517G>T (p.Arg506Leu)
|
rs1851744303
|
|
NM_024426.6(WT1):c.1519del (p.His507fs)
|
|
|
NM_024426.6(WT1):c.151G>A (p.Ala51Thr)
|
rs1853473868
|
|
NM_024426.6(WT1):c.151_152delinsAA (p.Ala51Asn)
|
rs2133106703
|
|
NM_024426.6(WT1):c.1524C>A (p.His508Gln)
|
rs1451629862
|
|
NM_024426.6(WT1):c.1526A>T (p.Asn509Ile)
|
rs2132898041
|
|
NM_024426.6(WT1):c.1528A>G (p.Met510Val)
|
rs1554938534
|
|
NM_024426.6(WT1):c.1529T>A (p.Met510Lys)
|
rs1851743827
|
|
NM_024426.6(WT1):c.1538G>C (p.Arg513Thr)
|
rs1363144688
|
|
NM_024426.6(WT1):c.1541A>C (p.Asn514Thr)
|
|
|
NM_024426.6(WT1):c.1541A>G (p.Asn514Ser)
|
rs1554938531
|
|
NM_024426.6(WT1):c.1541A>T (p.Asn514Ile)
|
rs1554938531
|
|
NM_024426.6(WT1):c.1545G>A (p.Met515Ile)
|
rs2132897547
|
|
NM_024426.6(WT1):c.1561G>C (p.Ala521Pro)
|
rs1851742668
|
|
NM_024426.6(WT1):c.1569A>G (p.Ter523Trp)
|
rs1851742229
|
|
NM_024426.6(WT1):c.161G>C (p.Ser54Thr)
|
|
|
NM_024426.6(WT1):c.162C>A (p.Ser54Arg)
|
rs776954184
|
|
NM_024426.6(WT1):c.163G>A (p.Ala55Thr)
|
|
|
NM_024426.6(WT1):c.163G>T (p.Ala55Ser)
|
|
|
NM_024426.6(WT1):c.164_165delinsTG (p.Ala55Val)
|
rs2133106545
|
|
NM_024426.6(WT1):c.166G>C (p.Glu56Gln)
|
|
|
NM_024426.6(WT1):c.169C>A (p.Arg57Ser)
|
rs961526551
|
|
NM_024426.6(WT1):c.169C>G (p.Arg57Gly)
|
rs961526551
|
|
NM_024426.6(WT1):c.16C>T (p.Leu6=)
|
|
|
NM_024426.6(WT1):c.16_17delinsGG (p.Leu6Gly)
|
|
|
NM_024426.6(WT1):c.170G>A (p.Arg57His)
|
rs1011628259
|
|
NM_024426.6(WT1):c.170G>T (p.Arg57Leu)
|
rs1011628259
|
|
NM_024426.6(WT1):c.172C>T (p.Leu58Phe)
|
rs1412425868
|
|
NM_024426.6(WT1):c.173T>G (p.Leu58Arg)
|
|
|
NM_024426.6(WT1):c.176A>G (p.Gln59Arg)
|
rs2133106426
|
|
NM_024426.6(WT1):c.177G>A (p.Gln59=)
|
rs1311704660
|
|
NM_024426.6(WT1):c.177G>C (p.Gln59His)
|
rs1311704660
|
|
NM_024426.6(WT1):c.17T>C (p.Leu6Pro)
|
|
|
NM_024426.6(WT1):c.181C>T (p.Arg61Trp)
|
|
|
NM_024426.6(WT1):c.181_182delinsTA (p.Arg61Ter)
|
|
|
NM_024426.6(WT1):c.182G>A (p.Arg61Gln)
|
|
|
NM_024426.6(WT1):c.182G>C (p.Arg61Pro)
|
|
|
NM_024426.6(WT1):c.185G>A (p.Arg62Lys)
|
rs1295712217
|
|
NM_024426.6(WT1):c.189C>A (p.Ser63Arg)
|
rs1215127008
|
|
NM_024426.6(WT1):c.191G>A (p.Arg64His)
|
rs1853471149
|
|
NM_024426.6(WT1):c.193G>T (p.Gly65Trp)
|
rs374404615
|
|
NM_024426.6(WT1):c.194G>A (p.Gly65Glu)
|
rs1853470727
|
|
NM_024426.6(WT1):c.196G>A (p.Ala66Thr)
|
rs1590410967
|
|
NM_024426.6(WT1):c.196del (p.Ala66fs)
|
|
|
NM_024426.6(WT1):c.197C>A (p.Ala66Glu)
|
rs1341675324
|
|
NM_024426.6(WT1):c.197C>T (p.Ala66Val)
|
|
|
NM_024426.6(WT1):c.19C>A (p.Gln7Lys)
|
rs2133108011
|
|
NM_024426.6(WT1):c.19C>T (p.Gln7Ter)
|
rs2133108011
|
|
NM_024426.6(WT1):c.200C>T (p.Ser67Phe)
|
rs1327516147
|
|
NM_024426.6(WT1):c.202G>C (p.Gly68Arg)
|
rs1353446740
|
|
NM_024426.6(WT1):c.203G>A (p.Gly68Glu)
|
rs1170323988
|
|
NM_024426.6(WT1):c.210G>C (p.Glu70Asp)
|
rs745506215
|
|
NM_024426.6(WT1):c.211C>T (p.Pro71Ser)
|
rs1392405207
|
|
NM_024426.6(WT1):c.215A>T (p.Gln72Leu)
|
rs2133106001
|
|
NM_024426.6(WT1):c.216G>C (p.Gln72His)
|
rs5030135
|
|
NM_024426.6(WT1):c.230A>T (p.Asp77Val)
|
|
|
NM_024426.6(WT1):c.232G>A (p.Val78Met)
|
rs1590410789
|
|
NM_024426.6(WT1):c.236G>A (p.Arg79Gln)
|
rs1853467176
|
|
NM_024426.6(WT1):c.238G>C (p.Asp80His)
|
|
|
NM_024426.6(WT1):c.23A>T (p.Asp8Val)
|
|
|
NM_024426.6(WT1):c.240C>G (p.Asp80Glu)
|
rs2133105820
|
|
NM_024426.6(WT1):c.241C>A (p.Leu81Met)
|
rs777617460
|
|
NM_024426.6(WT1):c.242T>G (p.Leu81Arg)
|
rs2133105795
|
|
NM_024426.6(WT1):c.244A>G (p.Asn82Asp)
|
|
|
NM_024426.6(WT1):c.246C>A (p.Asn82Lys)
|
|
|
NM_024426.6(WT1):c.246C>G (p.Asn82Lys)
|
|
|
NM_024426.6(WT1):c.247G>A (p.Ala83Thr)
|
|
|
NM_024426.6(WT1):c.247G>C (p.Ala83Pro)
|
rs886048231
|
|
NM_024426.6(WT1):c.247G>T (p.Ala83Ser)
|
rs886048231
|
|
NM_024426.6(WT1):c.247_248delinsCT (p.Ala83Leu)
|
|
|
NM_024426.6(WT1):c.24C>A (p.Asp8Glu)
|
rs1393437791
|
|
NM_024426.6(WT1):c.24C>G (p.Asp8Glu)
|
rs1393437791
|
|
NM_024426.6(WT1):c.254T>C (p.Leu85Pro)
|
|
|
NM_024426.6(WT1):c.257C>T (p.Pro86Leu)
|
|
|
NM_024426.6(WT1):c.25C>A (p.Pro9Thr)
|
rs1314273962
|
|
NM_024426.6(WT1):c.261_262delinsTT (p.Val88Phe)
|
|
|
NM_024426.6(WT1):c.262G>T (p.Val88Phe)
|
rs1410971862
|
|
NM_024426.6(WT1):c.263T>A (p.Val88Asp)
|
|
|
NM_024426.6(WT1):c.265C>A (p.Pro89Thr)
|
|
|
NM_024426.6(WT1):c.266C>T (p.Pro89Leu)
|
|
|
NM_024426.6(WT1):c.268T>C (p.Ser90Pro)
|
rs1590410623
|
|
NM_024426.6(WT1):c.269C>T (p.Ser90Phe)
|
rs1853464700
|
|
NM_024426.6(WT1):c.26C>G (p.Pro9Arg)
|
rs948132360
|
|
NM_024426.6(WT1):c.277GGC[3] (p.Gly96del)
|
rs770519620
|
|
NM_024426.6(WT1):c.277GGC[5] (p.Gly96dup)
|
rs770519620
|
|
NM_024426.6(WT1):c.278G>A (p.Gly93Asp)
|
rs1590410578
|
|
NM_024426.6(WT1):c.280G>A (p.Gly94Ser)
|
rs758512604
|
|
NM_024426.6(WT1):c.284G>A (p.Gly95Asp)
|
|
|
NM_024426.6(WT1):c.285C>T (p.Gly95=)
|
rs886048230
|
|
NM_024426.6(WT1):c.286G>T (p.Gly96Cys)
|
rs1060501254
|
|
NM_024426.6(WT1):c.288_289insGGA (p.Gly96_Cys97insGly)
|
|
|
NM_024426.6(WT1):c.289T>C (p.Cys97Arg)
|
rs1383360383
|
|
NM_024426.6(WT1):c.28G>A (p.Ala10Thr)
|
|
|
NM_024426.6(WT1):c.28G>T (p.Ala10Ser)
|
rs1351753257
|
|
NM_024426.6(WT1):c.28_29delinsAT (p.Ala10Ile)
|
rs1554946803
|
|
NM_024426.6(WT1):c.28_29delinsTA (p.Ala10Tyr)
|
rs1554946803
|
|
NM_024426.6(WT1):c.290G>C (p.Cys97Ser)
|
rs1853462998
|
|
NM_024426.6(WT1):c.293C>G (p.Ala98Gly)
|
rs1853462729
|
|
NM_024426.6(WT1):c.293C>T (p.Ala98Val)
|
rs1853462729
|
|
NM_024426.6(WT1):c.295C>G (p.Leu99Val)
|
|
|
NM_024426.6(WT1):c.296T>A (p.Leu99Gln)
|
rs1565001942
|
|
NM_024426.6(WT1):c.296T>C (p.Leu99Pro)
|
rs1565001942
|
|
NM_024426.6(WT1):c.298C>A (p.Pro100Thr)
|
rs567200038
|
|
NM_024426.6(WT1):c.298C>T (p.Pro100Ser)
|
rs567200038
|
|
NM_024426.6(WT1):c.299C>G (p.Pro100Arg)
|
|
|
NM_024426.6(WT1):c.301G>C (p.Val101Leu)
|
rs1853461708
|
|
NM_024426.6(WT1):c.305G>A (p.Ser102Asn)
|
rs1210117032
|
|
NM_024426.6(WT1):c.306C>A (p.Ser102Arg)
|
|
|
NM_024426.6(WT1):c.307G>T (p.Gly103Cys)
|
rs1348287926
|
|
NM_024426.6(WT1):c.310G>A (p.Ala104Thr)
|
rs1853461168
|
|
NM_024426.6(WT1):c.311C>T (p.Ala104Val)
|
|
|
NM_024426.6(WT1):c.313G>T (p.Ala105Ser)
|
rs1236417259
|
|
NM_024426.6(WT1):c.319T>G (p.Trp107Gly)
|
rs1853460114
|
|
NM_024426.6(WT1):c.320G>T (p.Trp107Leu)
|
rs1009810769
|
|
NM_024426.6(WT1):c.322G>A (p.Ala108Thr)
|
|
|
NM_024426.6(WT1):c.325C>G (p.Pro109Ala)
|
|
|
NM_024426.6(WT1):c.325C>T (p.Pro109Ser)
|
|
|
NM_024426.6(WT1):c.326C>A (p.Pro109Gln)
|
rs1853459569
|
|
NM_024426.6(WT1):c.329T>C (p.Val110Ala)
|
rs1853459284
|
|
NM_024426.6(WT1):c.32C>T (p.Ser11Phe)
|
|
|
NM_024426.6(WT1):c.332T>C (p.Leu111Pro)
|
|
|
NM_024426.6(WT1):c.338T>A (p.Phe113Tyr)
|
|
|
NM_024426.6(WT1):c.338T>C (p.Phe113Ser)
|
|
|
NM_024426.6(WT1):c.33_34delinsAC (p.Thr12Pro)
|
rs2133107830
|
|
NM_024426.6(WT1):c.340G>A (p.Ala114Thr)
|
rs1590410300
|
|
NM_024426.6(WT1):c.341C>T (p.Ala114Val)
|
rs1311557029
|
|
NM_024426.6(WT1):c.343C>A (p.Pro115Thr)
|
rs916583720
|
|
NM_024426.6(WT1):c.344C>A (p.Pro115His)
|
rs1565001804
|
|
NM_024426.6(WT1):c.346C>A (p.Pro116Thr)
|
rs1554946595
|
|
NM_024426.6(WT1):c.347C>G (p.Pro116Arg)
|
|
|
NM_024426.6(WT1):c.347C>T (p.Pro116Leu)
|
rs886048229
|
|
NM_024426.6(WT1):c.34A>G (p.Thr12Ala)
|
|
|
NM_024426.6(WT1):c.351C>T (p.Gly117=)
|
rs1473590912
|
|
NM_024426.6(WT1):c.352G>A (p.Ala118Thr)
|
rs1253163678
|
|
NM_024426.6(WT1):c.356C>G (p.Ser119Trp)
|
rs1853456180
|
|
NM_024426.6(WT1):c.356C>T (p.Ser119Leu)
|
|
|
NM_024426.6(WT1):c.358G>A (p.Ala120Thr)
|
rs1590410151
|
|
NM_024426.6(WT1):c.35C>A (p.Thr12Lys)
|
|
|
NM_024426.6(WT1):c.35C>T (p.Thr12Met)
|
rs2133107793
|
|
NM_024426.6(WT1):c.368C>T (p.Ser123Leu)
|
rs2133104248
|
|
NM_024426.6(WT1):c.372G>T (p.Leu124Phe)
|
|
|
NM_024426.6(WT1):c.376G>A (p.Gly126Ser)
|
rs1853454814
|
|
NM_024426.6(WT1):c.376G>C (p.Gly126Arg)
|
|
|
NM_024426.6(WT1):c.376G>T (p.Gly126Cys)
|
rs1853454814
|
|
NM_024426.6(WT1):c.377G>A (p.Gly126Asp)
|
|
|
NM_024426.6(WT1):c.377G>C (p.Gly126Ala)
|
rs2133104145
|
|
NM_024426.6(WT1):c.379C>A (p.Pro127Thr)
|
rs1554946578
|
|
NM_024426.6(WT1):c.379C>T (p.Pro127Ser)
|
|
|
NM_024426.6(WT1):c.380C>T (p.Pro127Leu)
|
|
|
NM_024426.6(WT1):c.382G>A (p.Ala128Thr)
|
rs1853454136
|
|
NM_024426.6(WT1):c.383C>A (p.Ala128Glu)
|
|
|
NM_024426.6(WT1):c.386C>T (p.Pro129Leu)
|
rs745435848
|
|
NM_024426.6(WT1):c.388C>T (p.Pro130Ser)
|
rs1554946573
|
|
NM_024426.6(WT1):c.389C>T (p.Pro130Leu)
|
|
|
NM_024426.6(WT1):c.390_401dup (p.128APPP[3])
|
rs2133103848
|
|
NM_024426.6(WT1):c.391C>A (p.Pro131Thr)
|
|
|
NM_024426.6(WT1):c.391C>T (p.Pro131Ser)
|
rs564706633
|
|
NM_024426.6(WT1):c.392C>T (p.Pro131Leu)
|
|
|
NM_024426.6(WT1):c.393G>A (p.Pro131=)
|
rs1229890218
|
|
NM_024426.6(WT1):c.393_407del (p.Ala132_Pro136del)
|
rs1853451296
|
|
NM_024426.6(WT1):c.393_407dup (p.Ala132_Pro136dup)
|
rs1853451296
|
|
NM_024426.6(WT1):c.394G>T (p.Ala132Ser)
|
|
|
NM_024426.6(WT1):c.395C>G (p.Ala132Gly)
|
|
|
NM_024426.6(WT1):c.397C>T (p.Pro133Ser)
|
rs1202603651
|
|
NM_024426.6(WT1):c.398C>A (p.Pro133Gln)
|
|
|
NM_024426.6(WT1):c.400C>T (p.Pro134Ser)
|
rs2133103862
|
|
NM_024426.6(WT1):c.401C>G (p.Pro134Arg)
|
rs748974419
|
|
NM_024426.6(WT1):c.401C>T (p.Pro134Leu)
|
|
|
NM_024426.6(WT1):c.405_413dup (p.Pro141_His142insProProPro)
|
|
|
NM_024426.6(WT1):c.405_416dup (p.Pro138_Pro141dup)
|
rs1469499452
|
|
NM_024426.6(WT1):c.405_419del (p.Pro137_Pro141del)
|
rs2133103594
|
|
NM_024426.6(WT1):c.405_422dup (p.Pro136_Pro141dup)
|
rs1853449457
|
|
NM_024426.6(WT1):c.406C>T (p.Pro136Ser)
|
|
|
NM_024426.6(WT1):c.409C>G (p.Pro137Ala)
|
rs1853451078
|
|
NM_024426.6(WT1):c.40G>C (p.Val14Leu)
|
|
|
NM_024426.6(WT1):c.411GCC[5] (p.Pro141dup)
|
rs760304811
|
|
NM_024426.6(WT1):c.413C>A (p.Pro138Gln)
|
rs1853450493
|
|
NM_024426.6(WT1):c.413C>G (p.Pro138Arg)
|
rs1853450493
|
|
NM_024426.6(WT1):c.413C>T (p.Pro138Leu)
|
|
|
NM_024426.6(WT1):c.416C>A (p.Pro139Gln)
|
|
|
NM_024426.6(WT1):c.416C>G (p.Pro139Arg)
|
rs878855085
|
|
NM_024426.6(WT1):c.422C>T (p.Pro141Leu)
|
|
|
NM_024426.6(WT1):c.424C>T (p.His142Tyr)
|
|
|
NM_024426.6(WT1):c.425A>C (p.His142Pro)
|
rs1565001515
|
|
NM_024426.6(WT1):c.425A>T (p.His142Leu)
|
rs1565001515
|
|
NM_024426.6(WT1):c.426C>G (p.His142Gln)
|
rs1183359726
|
|
NM_024426.6(WT1):c.427T>C (p.Ser143Pro)
|
rs778937284
|
|
NM_024426.6(WT1):c.428C>G (p.Ser143Cys)
|
|
|
NM_024426.6(WT1):c.430_432del (p.Phe144del)
|
|
|
NM_024426.6(WT1):c.433A>G (p.Ile145Val)
|
rs2133103410
|
|
NM_024426.6(WT1):c.445C>T (p.Pro149Ser)
|
rs1554946517
|
|
NM_024426.6(WT1):c.446C>A (p.Pro149Gln)
|
rs1853447771
|
|
NM_024426.6(WT1):c.446C>G (p.Pro149Arg)
|
rs1853447771
|
|
NM_024426.6(WT1):c.448A>G (p.Ser150Gly)
|
rs1853447534
|
|
NM_024426.6(WT1):c.449G>A (p.Ser150Asn)
|
rs1853447426
|
|
NM_024426.6(WT1):c.449G>T (p.Ser150Ile)
|
|
|
NM_024426.6(WT1):c.44C>T (p.Pro15Leu)
|
rs2133107749
|
|
NM_024426.6(WT1):c.450C>A (p.Ser150Arg)
|
rs1213710686
|
|
NM_024426.6(WT1):c.451T>A (p.Trp151Arg)
|
rs1853446972
|
|
NM_024426.6(WT1):c.455G>A (p.Gly152Asp)
|
rs1853446628
|
|
NM_024426.6(WT1):c.463G>A (p.Glu155Lys)
|
rs1853446395
|
|
NM_024426.6(WT1):c.466C>T (p.Pro156Ser)
|
rs1353428791
|
|
NM_024426.6(WT1):c.467C>A (p.Pro156Gln)
|
rs1225927150
|
|
NM_024426.6(WT1):c.467C>T (p.Pro156Leu)
|
rs1225927150
|
|
NM_024426.6(WT1):c.46G>A (p.Glu16Lys)
|
rs2133107724
|
|
NM_024426.6(WT1):c.471C>A (p.His157Gln)
|
rs753238865
|
|
NM_024426.6(WT1):c.471C>G (p.His157Gln)
|
rs753238865
|
|
NM_024426.6(WT1):c.472G>A (p.Glu158Lys)
|
rs1565001383
|
|
NM_024426.6(WT1):c.472G>C (p.Glu158Gln)
|
rs1565001383
|
|
NM_024426.6(WT1):c.476A>G (p.Glu159Gly)
|
|
|
NM_024426.6(WT1):c.477G>C (p.Glu159Asp)
|
rs2133102935
|
|
NM_024426.6(WT1):c.478C>G (p.Gln160Glu)
|
rs1554946500
|
|
NM_024426.6(WT1):c.480G>C (p.Gln160His)
|
rs758900425
|
|
NM_024426.6(WT1):c.481T>G (p.Cys161Gly)
|
|
|
NM_024426.6(WT1):c.482G>T (p.Cys161Phe)
|
rs1201988298
|
|
NM_024426.6(WT1):c.488G>A (p.Ser163Asn)
|
rs1853444119
|
|
NM_024426.6(WT1):c.489C>G (p.Ser163Arg)
|
|
|
NM_024426.6(WT1):c.490G>C (p.Ala164Pro)
|
rs986597775
|
|
NM_024426.6(WT1):c.496A>G (p.Thr166Ala)
|
rs1853443725
|
|
NM_024426.6(WT1):c.497C>G (p.Thr166Ser)
|
|
|
NM_024426.6(WT1):c.49C>T (p.Pro17Ser)
|
|
|
NM_024426.6(WT1):c.500T>C (p.Val167Ala)
|
|
|
NM_024426.6(WT1):c.503A>G (p.His168Arg)
|
rs762660918
|
|
NM_024426.6(WT1):c.505T>C (p.Phe169Leu)
|
rs2133102637
|
|
NM_024426.6(WT1):c.506T>C (p.Phe169Ser)
|
|
|
NM_024426.6(WT1):c.50C>T (p.Pro17Leu)
|
rs1853481697
|
|
NM_024426.6(WT1):c.511G>C (p.Gly171Arg)
|
|
|
NM_024426.6(WT1):c.519C>A (p.Phe173Leu)
|
|
|
NM_024426.6(WT1):c.520A>G (p.Thr174Ala)
|
rs955122145
|
|
NM_024426.6(WT1):c.524G>A (p.Gly175Asp)
|
rs1853442286
|
|
NM_024426.6(WT1):c.527C>T (p.Thr176Ile)
|
rs1853442157
|
|
NM_024426.6(WT1):c.529G>T (p.Ala177Ser)
|
|
|
NM_024426.6(WT1):c.52G>C (p.Ala18Pro)
|
rs1590411684
|
|
NM_024426.6(WT1):c.52G>T (p.Ala18Ser)
|
|
|
NM_024426.6(WT1):c.532G>A (p.Gly178Arg)
|
|
|
NM_024426.6(WT1):c.533G>A (p.Gly178Glu)
|
|
|
NM_024426.6(WT1):c.535G>A (p.Ala179Thr)
|
rs2133102397
|
|
NM_024426.6(WT1):c.539G>A (p.Cys180Tyr)
|
|
|
NM_024426.6(WT1):c.53C>A (p.Ala18Glu)
|
|
|
NM_024426.6(WT1):c.541C>A (p.Arg181Ser)
|
rs1565001278
|
|
NM_024426.6(WT1):c.541C>G (p.Arg181Gly)
|
|
|
NM_024426.6(WT1):c.542G>C (p.Arg181Pro)
|
rs1853441270
|
|
NM_024426.6(WT1):c.544T>C (p.Tyr182His)
|
|
|
NM_024426.6(WT1):c.547G>C (p.Gly183Arg)
|
rs1462705405
|
|
NM_024426.6(WT1):c.548G>A (p.Gly183Glu)
|
rs1060501256
|
|
NM_024426.6(WT1):c.553T>G (p.Phe185Val)
|
|
|
NM_024426.6(WT1):c.554T>G (p.Phe185Cys)
|
|
|
NM_024426.6(WT1):c.555C>G (p.Phe185Leu)
|
|
|
NM_024426.6(WT1):c.556G>A (p.Gly186Ser)
|
rs768644520
|
|
NM_024426.6(WT1):c.557G>A (p.Gly186Asp)
|
|
|
NM_024426.6(WT1):c.563C>T (p.Pro188Leu)
|
rs2133102091
|
|
NM_024426.6(WT1):c.565C>G (p.Pro189Ala)
|
rs1853439331
|
|
NM_024426.6(WT1):c.565C>T (p.Pro189Ser)
|
rs1853439331
|
|
NM_024426.6(WT1):c.566C>A (p.Pro189Gln)
|
|
|
NM_024426.6(WT1):c.566C>G (p.Pro189Arg)
|
rs745879965
|
|
NM_024426.6(WT1):c.56C>G (p.Ser19Cys)
|
|
|
NM_024426.6(WT1):c.572G>C (p.Ser191Thr)
|
rs2133101967
|
|
NM_024426.6(WT1):c.575A>G (p.Gln192Arg)
|
rs1853438394
|
|
NM_024426.6(WT1):c.577G>A (p.Ala193Thr)
|
rs1590409175
|
|
NM_024426.6(WT1):c.577G>C (p.Ala193Pro)
|
rs1590409175
|
|
NM_024426.6(WT1):c.577_582dup (p.Ser194_Ser195insAlaSer)
|
|
|
NM_024426.6(WT1):c.578C>A (p.Ala193Glu)
|
|
|
NM_024426.6(WT1):c.578C>G (p.Ala193Gly)
|
rs572926487
|
|
NM_024426.6(WT1):c.578C>T (p.Ala193Val)
|
|
|
NM_024426.6(WT1):c.581C>T (p.Ser194Leu)
|
rs2133101846
|
|
NM_024426.6(WT1):c.583T>G (p.Ser195Ala)
|
|
|
NM_024426.6(WT1):c.584C>T (p.Ser195Phe)
|
rs778194188
|
|
NM_024426.6(WT1):c.589C>A (p.Gln197Lys)
|
rs2133101720
|
|
NM_024426.6(WT1):c.590A>G (p.Gln197Arg)
|
rs1853436737
|
|
NM_024426.6(WT1):c.591G>T (p.Gln197His)
|
rs767850217
|
|
NM_024426.6(WT1):c.593C>T (p.Ala198Val)
|
rs1853436133
|
|
NM_024426.6(WT1):c.598A>G (p.Met200Val)
|
|
|
NM_024426.6(WT1):c.598A>T (p.Met200Leu)
|
rs1853435610
|
|
NM_024426.6(WT1):c.599T>G (p.Met200Arg)
|
rs2133101589
|
|
NM_024426.6(WT1):c.59A>T (p.Gln20Leu)
|
|
|
NM_024426.6(WT1):c.600G>A (p.Met200Ile)
|
rs1060501257
|
|
NM_024426.6(WT1):c.604C>T (p.Pro202Ser)
|
rs1853435385
|
|
NM_024426.6(WT1):c.609C>A (p.Asn203Lys)
|
|
|
NM_024426.6(WT1):c.609C>G (p.Asn203Lys)
|
rs2234583
|
|
NM_024426.6(WT1):c.611C>T (p.Ala204Val)
|
rs1277548839
|
|
NM_024426.6(WT1):c.616T>C (p.Tyr206His)
|
|
|
NM_024426.6(WT1):c.62A>G (p.His21Arg)
|
rs1853481014
|
|
NM_024426.6(WT1):c.62A>T (p.His21Leu)
|
rs1853481014
|
|
NM_024426.6(WT1):c.631C>T (p.Leu211Phe)
|
rs1853433365
|
|
NM_024426.6(WT1):c.635A>G (p.Glu212Gly)
|
rs2133101294
|
|
NM_024426.6(WT1):c.636G>C (p.Glu212Asp)
|
|
|
NM_024426.6(WT1):c.638G>A (p.Ser213Asn)
|
rs746964440
|
|
NM_024426.6(WT1):c.639C>A (p.Ser213Arg)
|
|
|
NM_024426.6(WT1):c.643C>A (p.Pro215Thr)
|
|
|
NM_024426.6(WT1):c.649A>C (p.Ile217Leu)
|
rs1384974578
|
|
NM_024426.6(WT1):c.649A>G (p.Ile217Val)
|
rs1384974578
|
|
NM_024426.6(WT1):c.649A>T (p.Ile217Phe)
|
rs1384974578
|
|
NM_024426.6(WT1):c.64A>G (p.Thr22Ala)
|
rs2133107584
|
|
NM_024426.6(WT1):c.652C>A (p.Arg218Ser)
|
rs2133101131
|
|
NM_024426.6(WT1):c.652C>T (p.Arg218Cys)
|
|
|
NM_024426.6(WT1):c.653G>A (p.Arg218His)
|
rs756414084
|
|
NM_024426.6(WT1):c.653G>T (p.Arg218Leu)
|
rs756414084
|
|
NM_024426.6(WT1):c.655A>C (p.Asn219His)
|
rs748435329
|
|
NM_024426.6(WT1):c.656A>G (p.Asn219Ser)
|
|
|
NM_024426.6(WT1):c.659A>G (p.Gln220Arg)
|
rs1554946409
|
|
NM_024426.6(WT1):c.659A>T (p.Gln220Leu)
|
rs1554946409
|
|
NM_024426.6(WT1):c.660G>A (p.Gln220=)
|
|
|
NM_024426.6(WT1):c.661+15G>T
|
rs1362460137
|
|
NM_024426.6(WT1):c.661+3A>G
|
|
|
NM_024426.6(WT1):c.661G>A (p.Gly221Ser)
|
|
|
NM_024426.6(WT1):c.661G>T (p.Gly221Cys)
|
|
|
NM_024426.6(WT1):c.662-3C>T
|
rs1853152059
|
|
NM_024426.6(WT1):c.662G>T (p.Gly221Val)
|
|
|
NM_024426.6(WT1):c.664T>C (p.Tyr222His)
|
rs746367691
|
|
NM_024426.6(WT1):c.667A>G (p.Ser223Gly)
|
|
|
NM_024426.6(WT1):c.670A>T (p.Thr224Ser)
|
rs1554945246
|
|
NM_024426.6(WT1):c.671C>T (p.Thr224Met)
|
rs779451877
|
|
NM_024426.6(WT1):c.674T>C (p.Val225Ala)
|
|
|
NM_024426.6(WT1):c.676A>C (p.Thr226Pro)
|
rs1853150433
|
|
NM_024426.6(WT1):c.677C>A (p.Thr226Asn)
|
rs556804456
|
|
NM_024426.6(WT1):c.677C>T (p.Thr226Ile)
|
rs556804456
|
|
NM_024426.6(WT1):c.67C>T (p.Leu23Phe)
|
rs2133107546
|
|
NM_024426.6(WT1):c.680T>C (p.Phe227Ser)
|
rs1554945235
|
|
NM_024426.6(WT1):c.682G>A (p.Asp228Asn)
|
rs1193052708
|
|
NM_024426.6(WT1):c.685G>C (p.Gly229Arg)
|
rs767419243
|
|
NM_024426.6(WT1):c.689C>A (p.Thr230Lys)
|
|
|
NM_024426.6(WT1):c.689C>G (p.Thr230Arg)
|
rs777166391
|
|
NM_024426.6(WT1):c.690_691delinsTT (p.Pro231Ser)
|
rs1853148368
|
|
NM_024426.6(WT1):c.691C>G (p.Pro231Ala)
|
rs766425764
|
|
NM_024426.6(WT1):c.694A>G (p.Ser232Gly)
|
|
|
NM_024426.6(WT1):c.694_699dup (p.Tyr233_Gly234insSerTyr)
|
rs1853147640
|
|
NM_024426.6(WT1):c.698A>G (p.Tyr233Cys)
|
|
|
NM_024426.6(WT1):c.700G>C (p.Gly234Arg)
|
rs1307992683
|
|
NM_024426.6(WT1):c.700G>T (p.Gly234Cys)
|
rs1307992683
|
|
NM_024426.6(WT1):c.707C>T (p.Thr236Met)
|
rs1372808262
|
|
NM_024426.6(WT1):c.709C>T (p.Pro237Ser)
|
rs2133075717
|
|
NM_024426.6(WT1):c.70C>A (p.Arg24Ser)
|
|
|
NM_024426.6(WT1):c.718C>T (p.His240Tyr)
|
rs2133075605
|
|
NM_024426.6(WT1):c.719A>G (p.His240Arg)
|
rs886932571
|
|
NM_024426.6(WT1):c.719A>T (p.His240Leu)
|
rs886932571
|
|
NM_024426.6(WT1):c.71G>C (p.Arg24Pro)
|
|
|
NM_024426.6(WT1):c.721G>A (p.Ala241Thr)
|
rs1853145802
|
|
NM_024426.6(WT1):c.722C>T (p.Ala241Val)
|
rs1190263054
|
|
NM_024426.6(WT1):c.725C>T (p.Ala242Val)
|
rs1853145265
|
|
NM_024426.6(WT1):c.730T>C (p.Phe244Leu)
|
rs771455202
|
|
NM_024426.6(WT1):c.733C>T (p.Pro245Ser)
|
rs2133075412
|
|
NM_024426.6(WT1):c.73T>C (p.Ser25Pro)
|
|
|
NM_024426.6(WT1):c.740A>G (p.His247Arg)
|
rs749860238
|
|
NM_024426.6(WT1):c.740A>T (p.His247Leu)
|
rs749860238
|
|
NM_024426.6(WT1):c.742T>G (p.Ser248Ala)
|
|
|
NM_024426.6(WT1):c.745T>A (p.Phe249Ile)
|
rs2133075297
|
|
NM_024426.6(WT1):c.746T>G (p.Phe249Cys)
|
rs777119782
|
|
NM_024426.6(WT1):c.747C>G (p.Phe249Leu)
|
rs1060501259
|
|
NM_024426.6(WT1):c.752A>G (p.His251Arg)
|
rs914029023
|
|
NM_024426.6(WT1):c.752A>T (p.His251Leu)
|
rs914029023
|
|
NM_024426.6(WT1):c.757G>A (p.Asp253Asn)
|
rs1853142313
|
|
NM_024426.6(WT1):c.758A>T (p.Asp253Val)
|
|
|
NM_024426.6(WT1):c.760C>A (p.Pro254Thr)
|
rs2234584
|
|
NM_024426.6(WT1):c.763A>C (p.Met255Leu)
|
rs142653301
|
|
NM_024426.6(WT1):c.763A>T (p.Met255Leu)
|
rs142653301
|
|
NM_024426.6(WT1):c.765G>C (p.Met255Ile)
|
rs1060501255
|
|
NM_024426.6(WT1):c.765G>T (p.Met255Ile)
|
rs1060501255
|
|
NM_024426.6(WT1):c.767G>A (p.Gly256Asp)
|
|
|
NM_024426.6(WT1):c.767G>T (p.Gly256Val)
|
rs1554945190
|
|
NM_024426.6(WT1):c.76G>C (p.Gly26Arg)
|
rs1189241211
|
|
NM_024426.6(WT1):c.773A>G (p.Gln258Arg)
|
rs1853140674
|
|
NM_024426.6(WT1):c.774G>C (p.Gln258His)
|
rs1853140429
|
|
NM_024426.6(WT1):c.776G>A (p.Gly259Asp)
|
rs1311184469
|
|
NM_024426.6(WT1):c.781C>G (p.Leu261Val)
|
|
|
NM_024426.6(WT1):c.784+5G>A
|
|
|
NM_024426.6(WT1):c.784+6C>T
|
rs1455790542
|
|
NM_024426.6(WT1):c.784G>T (p.Gly262Cys)
|
|
|
NM_024426.6(WT1):c.785-14G>A
|
rs375514482
|
|
NM_024426.6(WT1):c.785-3C>T
|
rs1590394595
|
|
NM_024426.6(WT1):c.791A>C (p.Gln264Pro)
|
|
|
NM_024426.6(WT1):c.799T>G (p.Ser267Ala)
|
|
|
NM_024426.6(WT1):c.800C>T (p.Ser267Leu)
|
rs2133073025
|
|
NM_024426.6(WT1):c.806C>T (p.Pro269Leu)
|
rs756078681
|
|
NM_024426.6(WT1):c.809C>T (p.Pro270Leu)
|
rs1853120541
|
|
NM_024426.6(WT1):c.812C>A (p.Pro271Gln)
|
|
|
NM_024426.6(WT1):c.820G>A (p.Gly274Ser)
|
|
|
NM_024426.6(WT1):c.825C>G (p.Cys275Trp)
|
rs200222400
|
|
NM_024426.6(WT1):c.830C>A (p.Thr277Asn)
|
rs138073760
|
|
NM_024426.6(WT1):c.836C>T (p.Thr279Ile)
|
|
|
NM_024426.6(WT1):c.840C>G (p.Asp280Glu)
|
|
|
NM_024426.6(WT1):c.842G>C (p.Ser281Thr)
|
|
|
NM_024426.6(WT1):c.845G>T (p.Cys282Phe)
|
|
|
NM_024426.6(WT1):c.848C>T (p.Thr283Ile)
|
rs776258782
|
|
NM_024426.6(WT1):c.854G>A (p.Ser285Asn)
|
rs779813097
|
|
NM_024426.6(WT1):c.854G>C (p.Ser285Thr)
|
rs779813097
|
|
NM_024426.6(WT1):c.855C>A (p.Ser285Arg)
|
rs1320428764
|
|
NM_024426.6(WT1):c.857A>C (p.Gln286Pro)
|
rs2133072249
|
|
NM_024426.6(WT1):c.859G>C (p.Ala287Pro)
|
rs368452754
|
|
NM_024426.6(WT1):c.866T>C (p.Leu289Pro)
|
rs2133072199
|
|
NM_024426.6(WT1):c.869T>G (p.Leu290Arg)
|
|
|
NM_024426.6(WT1):c.874A>G (p.Thr292Ala)
|
rs1853114494
|
|
NM_024426.6(WT1):c.875C>A (p.Thr292Lys)
|
rs1853114358
|
|
NM_024426.6(WT1):c.875C>T (p.Thr292Met)
|
rs1853114358
|
|
NM_024426.6(WT1):c.877C>T (p.Pro293Ser)
|
|
|
NM_024426.6(WT1):c.87C>A (p.Cys29Ter)
|
rs1554946770
|
|
NM_024426.6(WT1):c.883A>G (p.Ser295Gly)
|
rs1853113579
|
|
NM_024426.6(WT1):c.884G>A (p.Ser295Asn)
|
|
|
NM_024426.6(WT1):c.887+15_887+16delinsAA
|
|
|
NM_024426.6(WT1):c.888-1G>A
|
|
|
NM_024426.6(WT1):c.888-9T>A
|
rs1852720933
|
|
NM_024426.6(WT1):c.891C>A (p.Asp297Glu)
|
rs2133037806
|
|
NM_024426.6(WT1):c.892A>G (p.Asn298Asp)
|
rs1554943492
|
|
NM_024426.6(WT1):c.893A>G (p.Asn298Ser)
|
rs907964605
|
|
NM_024426.6(WT1):c.905T>A (p.Met302Lys)
|
rs1208241960
|
|
NM_024426.6(WT1):c.905T>G (p.Met302Arg)
|
|
|
NM_024426.6(WT1):c.906G>T (p.Met302Ile)
|
|
|
NM_024426.6(WT1):c.907A>G (p.Thr303Ala)
|
|
|
NM_024426.6(WT1):c.908C>T (p.Thr303Ile)
|
|
|
NM_024426.6(WT1):c.910T>C (p.Ser304Pro)
|
|
|
NM_024426.6(WT1):c.916C>A (p.Leu306Ile)
|
rs2133037398
|
|
NM_024426.6(WT1):c.919G>C (p.Glu307Gln)
|
rs1852718651
|
|
NM_024426.6(WT1):c.91C>G (p.Gln31Glu)
|
|
|
NM_024426.6(WT1):c.91C>T (p.Gln31Ter)
|
rs914057243
|
|
NM_024426.6(WT1):c.922T>G (p.Cys308Gly)
|
rs1852718495
|
|
NM_024426.6(WT1):c.923G>A (p.Cys308Tyr)
|
|
|
NM_024426.6(WT1):c.928A>C (p.Thr310Pro)
|
|
|
NM_024426.6(WT1):c.941T>G (p.Met314Arg)
|
|
|
NM_024426.6(WT1):c.946T>A (p.Leu316Ile)
|
rs2133036912
|
|
NM_024426.6(WT1):c.94C>A (p.Gln32Lys)
|
|
|
NM_024426.6(WT1):c.953C>G (p.Ala318Gly)
|
rs1201042140
|
|
NM_024426.6(WT1):c.955A>G (p.Thr319Ala)
|
rs1852716784
|
|
NM_024426.6(WT1):c.956C>A (p.Thr319Asn)
|
rs372630828
|
|
NM_024426.6(WT1):c.962A>C (p.Lys321Thr)
|
|
|
NM_024426.6(WT1):c.964G>A (p.Gly322Arg)
|
|
|
NM_024426.6(WT1):c.965+5G>A
|
rs2133036572
|
|
NM_024426.6(WT1):c.965+6G>A
|
|
|
NM_024426.6(WT1):c.965G>A (p.Gly322Glu)
|
|
|
NM_024426.6(WT1):c.966-1G>A
|
rs773989805
|
|
NM_024426.6(WT1):c.966-3T>C
|
|
|
NM_024426.6(WT1):c.968T>C (p.Val323Ala)
|
rs1852677213
|
|
NM_024426.6(WT1):c.970G>T (p.Ala324Ser)
|
|
|
NM_024426.6(WT1):c.973G>T (p.Ala325Ser)
|
|
|
NM_024426.6(WT1):c.976G>C (p.Gly326Arg)
|
|
|
NM_024426.6(WT1):c.979A>C (p.Ser327Arg)
|
rs1590373542
|
|
NM_024426.6(WT1):c.985A>G (p.Ser329Gly)
|
|
|
NM_024426.6(WT1):c.987C>G (p.Ser329Arg)
|
rs2133032527
|
|
NM_024426.6(WT1):c.988T>C (p.Ser330Pro)
|
rs879279620
|
|
NM_024426.6(WT1):c.989C>T (p.Ser330Leu)
|
rs762688982
|
|
NM_024426.6(WT1):c.98C>A (p.Pro33Gln)
|
|
|
NM_024426.6(WT1):c.992T>C (p.Val331Ala)
|
|
|
NM_024426.6(WT1):c.996A>T (p.Lys332Asn)
|
rs758410591
|
|
NM_024426.6(WT1):c.997T>C (p.Trp333Arg)
|
|
|
NM_030665.4(RAI1):c.1618G>T (p.Ala540Ser)
|
|
|
NM_030665.4(RAI1):c.1658T>C (p.Val553Ala)
|
|
|
NM_030665.4(RAI1):c.1748G>A (p.Ser583Asn)
|
rs1057519065
|
|
NM_030665.4(RAI1):c.1777G>T (p.Asp593Tyr)
|
|
|
NM_030665.4(RAI1):c.1888C>G (p.Pro630Ala)
|
rs1184373480
|
|
NM_030665.4(RAI1):c.2468G>A (p.Gly823Asp)
|
|
|
NM_030665.4(RAI1):c.274C>A (p.Gln92Lys)
|
|
|
NM_030665.4(RAI1):c.282G>T (p.Arg94Ser)
|
|
|
NM_030665.4(RAI1):c.2918C>G (p.Ala973Gly)
|
rs2032220904
|
|
NM_030665.4(RAI1):c.3168T>G (p.Cys1056Trp)
|
rs2143002559
|
|
NM_030665.4(RAI1):c.3272C>A (p.Ala1091Asp)
|
rs2143002601
|
|
NM_030665.4(RAI1):c.3649C>T (p.Arg1217Trp)
|
rs898986244
|
|
NM_030665.4(RAI1):c.3660T>A (p.His1220Gln)
|
rs745379131
|
|
NM_030665.4(RAI1):c.424G>T (p.Asp142Tyr)
|
rs2032095988
|
|
NM_030665.4(RAI1):c.4415C>G (p.Ala1472Gly)
|
|
|
NM_030665.4(RAI1):c.4462A>G (p.Ser1488Gly)
|
|
|
NM_030665.4(RAI1):c.4967C>G (p.Ser1656Cys)
|
rs774532013
|
|
NM_030665.4(RAI1):c.5407C>G (p.Arg1803Gly)
|
|
|
NM_030665.4(RAI1):c.5698C>G (p.Pro1900Ala)
|
rs1039699590
|
|
NM_030665.4(RAI1):c.619A>T (p.Thr207Ser)
|
rs1434136369
|
|
NM_032322.4(RNF135):c.1015del (p.Val339fs)
|
rs724159978
|
|
NM_032322.4(RNF135):c.742del (p.Leu248fs)
|
rs724159977
|
|
NM_032408.4(BAZ1B):c.760C>T (p.Arg254Ter)
|
rs2116378500
|
|
NM_032776.3(JMJD1C):c.1919del (p.Pro640fs)
|
|
|
NM_033380.3(COL4A5):c.989A>G (p.Lys330Arg)
|
|
|
NM_078480.3(PUF60):c.1046G>C (p.Gly349Ala)
|
|
|
NM_078480.3(PUF60):c.1187C>T (p.Ser396Leu)
|
|
|
NM_078480.3(PUF60):c.11C>G (p.Ala4Gly)
|
|
|
NM_078480.3(PUF60):c.1292C>T (p.Pro431Leu)
|
rs1816390931
|
|
NM_078480.3(PUF60):c.1376A>G (p.Gln459Arg)
|
|
|
NM_078480.3(PUF60):c.1381-3_1381-2del
|
|
|
NM_078480.3(PUF60):c.1384A>G (p.Thr462Ala)
|
|
|
NM_078480.3(PUF60):c.24+1G>C
|
rs1064795388
|
|
NM_078480.3(PUF60):c.361C>T (p.Arg121Trp)
|
rs2130258570
|
|
NM_078480.3(PUF60):c.530A>G (p.Tyr177Cys)
|
|
|
NM_078480.3(PUF60):c.603G>A (p.Lys201=)
|
rs1816591218
|
|
NM_078480.3(PUF60):c.613C>T (p.Pro205Ser)
|
rs1439430129
|
|
NM_078480.3(PUF60):c.668G>A (p.Arg223Gln)
|
rs1317244394
|
|
NM_078480.3(PUF60):c.914C>T (p.Pro305Leu)
|
|
|
NM_080647.1(TBX1):c.-4_6del (p.Met1fs)
|
|
|
NM_080647.1(TBX1):c.28A>G (p.Met10Val)
|
rs1936578247
|
|
NM_080647.1(TBX1):c.855G>C (p.Lys285Asn)
|
rs2145836461
|
|
NM_138435.4(FAM83F):c.671G>A (p.Arg224His)
|
|
|
NM_144997.7(FLCN):c.1040A>G (p.Lys347Arg)
|
rs752337482
|
|
NM_144997.7(FLCN):c.10A>G (p.Ile4Val)
|
rs1555611575
|
|
NM_144997.7(FLCN):c.1283C>A (p.Pro428His)
|
rs199889477
|
|
NM_144997.7(FLCN):c.1285C>G (p.His429Asp)
|
rs375082054
|
|
NM_144997.7(FLCN):c.1285C>T (p.His429Tyr)
|
rs375082054
|
|
NM_144997.7(FLCN):c.1300+4C>T
|
rs1207963576
|
|
NM_144997.7(FLCN):c.1309G>C (p.Val437Leu)
|
rs772207015
|
|
NM_144997.7(FLCN):c.1337G>A (p.Arg446His)
|
rs750104212
|
|
NM_144997.7(FLCN):c.134C>T (p.Ala45Val)
|
rs556510460
|
|
NM_144997.7(FLCN):c.1351C>T (p.Pro451Ser)
|
rs2046880742
|
|
NM_144997.7(FLCN):c.1487C>T (p.Ser496Phe)
|
rs750535468
|
|
NM_144997.7(FLCN):c.1519C>T (p.Leu507Phe)
|
rs1360467783
|
|
NM_144997.7(FLCN):c.1547A>G (p.Lys516Arg)
|
rs2046824022
|
|
NM_144997.7(FLCN):c.1709G>T (p.Arg570Leu)
|
rs201056799
|
|
NM_144997.7(FLCN):c.1715C>A (p.Pro572His)
|
rs1567804824
|
|
NM_144997.7(FLCN):c.1733G>A (p.Arg578Gln)
|
rs1048214486
|
|
NM_144997.7(FLCN):c.202A>C (p.Ser68Arg)
|
rs587778365
|
|
NM_144997.7(FLCN):c.380G>A (p.Arg127Gln)
|
rs1567822604
|
|
NM_144997.7(FLCN):c.598C>T (p.Leu200Phe)
|
rs1229735191
|
|
NM_144997.7(FLCN):c.614T>C (p.Leu205Pro)
|
rs878855219
|
|
NM_144997.7(FLCN):c.718TCGCTGACA[1] (p.241LTS[1])
|
rs1209487287
|
|
NM_144997.7(FLCN):c.728C>T (p.Ser243Leu)
|
rs1026067642
|
|
NM_144997.7(FLCN):c.798C>T (p.Gly266=)
|
rs2047092959
|
|
NM_144997.7(FLCN):c.79G>T (p.Ala27Ser)
|
rs779449668
|
|
NM_144997.7(FLCN):c.833C>G (p.Pro278Arg)
|
rs748031634
|
|
NM_145697.3(NUF2):c.908T>C (p.Leu303Pro)
|
|
|
NM_152989.5(SOX5):c.-1-87764T>C
|
rs1949815031
|
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NM_152989.5(SOX5):c.-175-344A>G
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rs2136240323
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NM_170707.4(LMNA):c.1535T>C (p.Leu512Pro)
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rs57877560
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NM_172349.5(NSD1):c.-151+112_-151+113del
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rs1581082075
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Single allele
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