NM_001378120.1(MBD5):c.2519-20T>G
|
rs775650772
|
0.01348
|
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn)
|
rs114314967
|
0.00198
|
NM_001211.6(BUB1B):c.10G>A (p.Val4Met)
|
rs147549987
|
0.00192
|
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser)
|
rs77618751
|
0.00188
|
NM_001379200.1(TBX1):c.1159G>A (p.Gly387Ser)
|
rs565927787
|
0.00107
|
NM_000057.4(BLM):c.3592G>A (p.Val1198Met)
|
rs142928725
|
0.00090
|
NM_001379200.1(TBX1):c.1037-15C>T
|
rs533097263
|
0.00087
|
NM_022455.5(NSD1):c.1574G>A (p.Arg525Gln)
|
rs138405802
|
0.00087
|
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe)
|
rs115722008
|
0.00086
|
NM_001211.6(BUB1B):c.772C>T (p.Leu258Phe)
|
rs146387899
|
0.00085
|
NM_001211.6(BUB1B):c.1628+9T>C
|
rs112600564
|
0.00075
|
NM_001378120.1(MBD5):c.4595G>A (p.Arg1532Gln)
|
rs35934694
|
0.00074
|
NM_001211.6(BUB1B):c.1539C>T (p.Asn513=)
|
rs140534961
|
0.00071
|
NM_001378120.1(MBD5):c.3743A>G (p.Gln1248Arg)
|
rs143028540
|
0.00068
|
NM_000057.4(BLM):c.2919C>T (p.Tyr973=)
|
rs181161119
|
0.00066
|
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_001211.6(BUB1B):c.1058+11T>G
|
rs369003469
|
0.00059
|
NM_001379200.1(TBX1):c.238C>G (p.Pro80Ala)
|
rs952890575
|
0.00059
|
NM_022455.5(NSD1):c.3389A>G (p.Glu1130Gly)
|
rs113856002
|
0.00058
|
NM_001379200.1(TBX1):c.540-8C>T
|
rs72646960
|
0.00049
|
NM_000057.4(BLM):c.3020-15C>T
|
rs200210516
|
0.00047
|
NM_001378120.1(MBD5):c.1055C>T (p.Thr352Ile)
|
rs145808884
|
0.00047
|
NM_000057.4(BLM):c.645C>T (p.Ser215=)
|
rs56218710
|
0.00045
|
NM_000057.4(BLM):c.1883-17G>A
|
rs376931510
|
0.00044
|
NM_024426.6(WT1):c.1063T>C (p.Cys355Arg)
|
rs142059681
|
0.00044
|
NM_001211.6(BUB1B):c.2385+13C>G
|
rs191736357
|
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_014679.5(CEP57):c.886-7C>A
|
rs150303764
|
0.00041
|
NM_001378120.1(MBD5):c.471A>G (p.Thr157=)
|
rs138433455
|
0.00040
|
NM_000057.4(BLM):c.3813G>A (p.Leu1271=)
|
rs376082823
|
0.00039
|
NM_001378120.1(MBD5):c.4401C>T (p.Val1467=)
|
rs144957555
|
0.00038
|
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg)
|
rs201857437
|
0.00038
|
NM_001211.6(BUB1B):c.36-14_36-13insG
|
rs373264516
|
0.00036
|
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln)
|
rs28932180
|
0.00036
|
NM_001172509.2(SATB2):c.1071C>T (p.Ser357=)
|
rs148055910
|
0.00035
|
NM_022455.5(NSD1):c.3722G>C (p.Ser1241Thr)
|
rs138641637
|
0.00035
|
NM_000057.4(BLM):c.759G>A (p.Gln253=)
|
rs34580216
|
0.00034
|
NM_000057.4(BLM):c.780T>C (p.Thr260=)
|
rs55763079
|
0.00034
|
NM_024426.6(WT1):c.662-6C>A
|
rs372418954
|
0.00034
|
NM_001211.6(BUB1B):c.1371A>G (p.Gln457=)
|
rs141013408
|
0.00033
|
NM_000057.4(BLM):c.2115T>C (p.Val705=)
|
rs142787700
|
0.00029
|
NM_000057.4(BLM):c.43C>T (p.Arg15Cys)
|
rs148545569
|
0.00029
|
NM_001172509.2(SATB2):c.1257G>A (p.Gln419=)
|
rs367947535
|
0.00029
|
NM_001211.6(BUB1B):c.1746A>C (p.Thr582=)
|
rs373105304
|
0.00029
|
NM_001211.6(BUB1B):c.752-13T>C
|
rs201927813
|
0.00029
|
NM_001378120.1(MBD5):c.1961A>T (p.Asp654Val)
|
rs115495710
|
0.00029
|
NM_022455.5(NSD1):c.2696T>C (p.Ile899Thr)
|
rs142703625
|
0.00028
|
NM_001379200.1(TBX1):c.941G>A (p.Arg314Gln)
|
rs555522870
|
0.00026
|
NM_000057.4(BLM):c.3225A>G (p.Arg1075=)
|
rs7171673
|
0.00024
|
NM_001172509.2(SATB2):c.333G>C (p.Ala111=)
|
rs140116634
|
0.00024
|
NM_022455.5(NSD1):c.1666A>G (p.Asn556Asp)
|
rs143571876
|
0.00024
|
NM_000057.4(BLM):c.174T>C (p.Pro58=)
|
rs576862402
|
0.00023
|
NM_001211.6(BUB1B):c.1734+18T>C
|
rs185839024
|
0.00023
|
NM_001211.6(BUB1B):c.1413G>T (p.Thr471=)
|
rs374560564
|
0.00022
|
NM_022455.5(NSD1):c.2968G>A (p.Glu990Lys)
|
rs138673583
|
0.00022
|
NM_001211.6(BUB1B):c.2009+17_2009+18insC
|
rs577967976
|
0.00021
|
NM_001378120.1(MBD5):c.2010C>G (p.Leu670=)
|
rs371014306
|
0.00021
|
NM_001378120.1(MBD5):c.2502A>C (p.Gln834His)
|
rs147272790
|
0.00021
|
NM_002397.5(MEF2C):c.27G>A (p.Thr9=)
|
rs540349899
|
0.00021
|
NM_014679.5(CEP57):c.95C>T (p.Ser32Phe)
|
rs139110744
|
0.00021
|
NM_022455.5(NSD1):c.6463+8C>A
|
rs147592452
|
0.00021
|
NM_001211.6(BUB1B):c.3147T>C (p.Phe1049=)
|
rs376467292
|
0.00019
|
NM_001378120.1(MBD5):c.1234G>A (p.Val412Ile)
|
rs761118931
|
0.00019
|
NM_022455.5(NSD1):c.6444T>C (p.Asn2148=)
|
rs146601031
|
0.00019
|
NM_022455.5(NSD1):c.6464-5T>C
|
rs545039997
|
0.00019
|
NM_022455.5(NSD1):c.6464-8G>T
|
rs577262396
|
0.00019
|
NM_022455.5(NSD1):c.6991G>A (p.Asp2331Asn)
|
rs772981865
|
0.00019
|
NM_024426.6(WT1):c.124G>A (p.Gly42Ser)
|
rs762288656
|
0.00019
|
NM_000057.4(BLM):c.807C>T (p.Ser269=)
|
rs147850738
|
0.00018
|
NM_022455.5(NSD1):c.7352G>A (p.Arg2451Lys)
|
rs200115665
|
0.00018
|
NM_014679.5(CEP57):c.46-10T>C
|
rs540711314
|
0.00017
|
NM_022455.5(NSD1):c.1558G>A (p.Ala520Thr)
|
rs559617787
|
0.00017
|
NM_000057.4(BLM):c.3751+10C>T
|
rs199685140
|
0.00016
|
NM_001172509.2(SATB2):c.1740+12C>T
|
rs201101830
|
0.00016
|
NM_022455.5(NSD1):c.3088T>C (p.Leu1030=)
|
rs61756006
|
0.00016
|
NM_024426.6(WT1):c.567G>T (p.Pro189=)
|
rs141135091
|
0.00016
|
NM_001172509.2(SATB2):c.1572G>A (p.Lys524=)
|
rs376557576
|
0.00015
|
NM_001378120.1(MBD5):c.4857C>T (p.Gly1619=)
|
rs543329958
|
0.00015
|
NM_001378120.1(MBD5):c.4963-11C>T
|
rs147291009
|
0.00015
|
NM_001379200.1(TBX1):c.913C>A (p.Arg305=)
|
rs751339103
|
0.00015
|
NM_001172509.2(SATB2):c.585C>T (p.Cys195=)
|
rs376383948
|
0.00014
|
NM_001211.6(BUB1B):c.1628+17T>G
|
rs375854305
|
0.00014
|
NM_001378120.1(MBD5):c.826C>T (p.Pro276Ser)
|
rs376756158
|
0.00014
|
NM_001379200.1(TBX1):c.1178C>A (p.Pro393Gln)
|
rs918788695
|
0.00014
|
NM_014679.5(CEP57):c.501A>G (p.Lys167=)
|
rs140524256
|
0.00014
|
NM_022455.5(NSD1):c.816C>A (p.Asn272Lys)
|
rs144524958
|
0.00014
|
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_001172509.2(SATB2):c.381C>A (p.Pro127=)
|
rs746473092
|
0.00013
|
NM_001379200.1(TBX1):c.594G>A (p.Thr198=)
|
rs138724943
|
0.00013
|
NM_000057.4(BLM):c.2194-13C>T
|
rs746930460
|
0.00012
|
NM_001172509.2(SATB2):c.1173+6A>G
|
rs747745210
|
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_022455.5(NSD1):c.6276G>A (p.Thr2092=)
|
rs138041618
|
0.00012
|
NM_022455.5(NSD1):c.786C>T (p.Asp262=)
|
rs370328602
|
0.00012
|
NM_024426.6(WT1):c.1017-15T>C
|
rs374441355
|
0.00012
|
NM_000057.4(BLM):c.1086C>T (p.Asp362=)
|
rs375632163
|
0.00011
|
NM_001211.6(BUB1B):c.1261C>T (p.Arg421Trp)
|
rs201251790
|
0.00011
|
NM_001378120.1(MBD5):c.217-16G>C
|
rs377517776
|
0.00011
|
NM_001379200.1(TBX1):c.936-8G>T
|
rs753380966
|
0.00011
|
NM_001379200.1(TBX1):c.96C>T (p.Ala32=)
|
rs931429492
|
0.00011
|
NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu)
|
rs140583358
|
0.00011
|
NM_000057.4(BLM):c.2598A>T (p.Val866=)
|
rs574053990
|
0.00010
|
NM_000057.4(BLM):c.2839A>G (p.Ile947Val)
|
rs189925962
|
0.00010
|
NM_000057.4(BLM):c.3426C>T (p.Ala1142=)
|
rs147148171
|
0.00010
|
NM_001172509.2(SATB2):c.1173+5A>G
|
rs569655648
|
0.00010
|
NM_001172509.2(SATB2):c.2088C>T (p.Thr696=)
|
rs143484322
|
0.00010
|
NM_001378120.1(MBD5):c.4182A>G (p.Ser1394=)
|
rs775314520
|
0.00010
|
NM_001379200.1(TBX1):c.915G>C (p.Arg305=)
|
rs146109202
|
0.00010
|
NM_002397.5(MEF2C):c.258+7G>C
|
rs372739987
|
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_024426.6(WT1):c.1264+19C>T
|
rs2234592
|
0.00010
|
NM_024426.6(WT1):c.849C>T (p.Thr283=)
|
rs145425799
|
0.00010
|
NM_000057.4(BLM):c.2293G>A (p.Val765Ile)
|
rs191789336
|
0.00009
|
NM_000057.4(BLM):c.2739C>T (p.Leu913=)
|
rs759223856
|
0.00009
|
NM_001172509.2(SATB2):c.1248G>A (p.Arg416=)
|
rs371524081
|
0.00009
|
NM_001172509.2(SATB2):c.1935C>T (p.Ile645=)
|
rs183727190
|
0.00009
|
NM_001211.6(BUB1B):c.966+14G>C
|
rs377647421
|
0.00009
|
NM_001378120.1(MBD5):c.1458T>C (p.Ile486=)
|
rs144232195
|
0.00009
|
NM_001378120.1(MBD5):c.1965A>C (p.Ala655=)
|
rs774148814
|
0.00009
|
NM_001378120.1(MBD5):c.4258T>G (p.Ser1420Ala)
|
rs756608508
|
0.00009
|
NM_001379200.1(TBX1):c.539+7G>A
|
rs780062926
|
0.00009
|
NM_001379200.1(TBX1):c.540-15C>G
|
rs45561334
|
0.00009
|
NM_002397.5(MEF2C):c.54+13A>T
|
rs374788140
|
0.00009
|
NM_022455.5(NSD1):c.3271C>A (p.Leu1091Ile)
|
rs35597015
|
0.00009
|
NM_022455.5(NSD1):c.4665G>A (p.Leu1555=)
|
rs779537845
|
0.00009
|
NM_022455.5(NSD1):c.6429C>T (p.His2143=)
|
rs121908068
|
0.00009
|
NM_022455.5(NSD1):c.6795C>T (p.Ser2265=)
|
rs148585227
|
0.00009
|
NM_022455.5(NSD1):c.72C>T (p.Ala24=)
|
rs147146776
|
0.00009
|
NM_024426.6(WT1):c.1158G>A (p.Ser386=)
|
rs377446096
|
0.00009
|
NM_024426.6(WT1):c.966-20C>T
|
rs374791135
|
0.00009
|
NM_000057.4(BLM):c.1088-14T>C
|
rs781351856
|
0.00008
|
NM_000057.4(BLM):c.664G>A (p.Glu222Lys)
|
rs774075577
|
0.00008
|
NM_001172509.2(SATB2):c.1740+20G>A
|
rs375950005
|
0.00008
|
NM_001172509.2(SATB2):c.2109C>T (p.Ser703=)
|
rs148851926
|
0.00008
|
NM_001211.6(BUB1B):c.2673A>G (p.Arg891=)
|
rs140574971
|
0.00008
|
NM_001211.6(BUB1B):c.2857C>T (p.Leu953=)
|
rs1055481142
|
0.00008
|
NM_001379200.1(TBX1):c.1077C>T (p.Gly359=)
|
rs1443686047
|
0.00008
|
NM_002397.5(MEF2C):c.780A>G (p.Pro260=)
|
rs776117674
|
0.00008
|
NM_014679.5(CEP57):c.426A>G (p.Leu142=)
|
rs148894464
|
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.1140C>A (p.Ala380=)
|
rs147126640
|
0.00008
|
NM_024426.6(WT1):c.1264+12C>T
|
rs369633552
|
0.00008
|
NM_024426.6(WT1):c.314C>G (p.Ala105Gly)
|
rs948061247
|
0.00008
|
NM_024426.6(WT1):c.888-16G>C
|
rs371814667
|
0.00008
|
NM_000057.4(BLM):c.2856G>A (p.Gly952=)
|
rs140559841
|
0.00007
|
NM_000057.4(BLM):c.3751+9A>C
|
rs774368488
|
0.00007
|
NM_001172509.2(SATB2):c.1387-6T>C
|
rs769072507
|
0.00007
|
NM_001172509.2(SATB2):c.1947G>A (p.Ser649=)
|
rs781765799
|
0.00007
|
NM_001211.6(BUB1B):c.1437A>G (p.Lys479=)
|
rs56292726
|
0.00007
|
NM_001211.6(BUB1B):c.1735-19T>C
|
rs750579205
|
0.00007
|
NM_001211.6(BUB1B):c.219C>T (p.Asp73=)
|
rs548540749
|
0.00007
|
NM_001211.6(BUB1B):c.678A>G (p.Thr226=)
|
rs142284213
|
0.00007
|
NM_001378120.1(MBD5):c.3681G>A (p.Ala1227=)
|
rs572893308
|
0.00007
|
NM_001378120.1(MBD5):c.3690A>G (p.Gly1230=)
|
rs139379552
|
0.00007
|
NM_001378120.1(MBD5):c.4963-10C>T
|
rs201439677
|
0.00007
|
NM_001379200.1(TBX1):c.961C>T (p.Leu321=)
|
rs745951558
|
0.00007
|
NM_014679.5(CEP57):c.540A>G (p.Thr180=)
|
rs376792493
|
0.00007
|
NM_022455.5(NSD1):c.142A>G (p.Met48Val)
|
rs200735877
|
0.00007
|
NM_022455.5(NSD1):c.4765+15G>A
|
rs766201833
|
0.00007
|
NM_024426.6(WT1):c.1020C>T (p.His340=)
|
rs375114529
|
0.00007
|
NM_000057.4(BLM):c.114A>G (p.Lys38=)
|
rs770017301
|
0.00006
|
NM_000057.4(BLM):c.2194-11T>G
|
rs8038505
|
0.00006
|
NM_000057.4(BLM):c.2407-6A>G
|
rs1478497820
|
0.00006
|
NM_000057.4(BLM):c.2475G>A (p.Pro825=)
|
rs147587050
|
0.00006
|
NM_000057.4(BLM):c.2555+14C>T
|
rs372929243
|
0.00006
|
NM_000057.4(BLM):c.2877A>C (p.Arg959=)
|
rs773582992
|
0.00006
|
NM_000057.4(BLM):c.4186T>C (p.Leu1396=)
|
rs376734461
|
0.00006
|
NM_000057.4(BLM):c.450C>T (p.Thr150=)
|
rs148861300
|
0.00006
|
NM_001172509.2(SATB2):c.1174-18T>A
|
rs1194654045
|
0.00006
|
NM_001172509.2(SATB2):c.1778G>A (p.Ser593Asn)
|
rs751007411
|
0.00006
|
NM_001172509.2(SATB2):c.2019C>T (p.His673=)
|
rs752933023
|
0.00006
|
NM_001172509.2(SATB2):c.2052G>A (p.Val684=)
|
rs200632115
|
0.00006
|
NM_001172509.2(SATB2):c.787T>C (p.Ser263Pro)
|
rs12619995
|
0.00006
|
NM_001211.6(BUB1B):c.1032G>A (p.Val344=)
|
rs756307061
|
0.00006
|
NM_001211.6(BUB1B):c.1443A>G (p.Gln481=)
|
rs754657047
|
0.00006
|
NM_001211.6(BUB1B):c.2010-11G>T
|
rs370832226
|
0.00006
|
NM_001211.6(BUB1B):c.2284+18C>T
|
rs113609246
|
0.00006
|
NM_001378120.1(MBD5):c.1536C>T (p.Ser512=)
|
rs147908860
|
0.00006
|
NM_001378120.1(MBD5):c.1999T>C (p.Leu667=)
|
rs529715710
|
0.00006
|
NM_001378120.1(MBD5):c.267T>C (p.Asp89=)
|
rs143333632
|
0.00006
|
NM_001378120.1(MBD5):c.3726C>T (p.Pro1242=)
|
rs144464864
|
0.00006
|
NM_001378120.1(MBD5):c.4139G>A (p.Arg1380Gln)
|
rs368605084
|
0.00006
|
NM_001379200.1(TBX1):c.1352G>C (p.Arg451Pro)
|
rs755937050
|
0.00006
|
NM_001379200.1(TBX1):c.198C>T (p.Ala66=)
|
rs1398031445
|
0.00006
|
NM_001379200.1(TBX1):c.540-13C>T
|
rs200902332
|
0.00006
|
NM_001379200.1(TBX1):c.657C>T (p.Ile219=)
|
rs141186024
|
0.00006
|
NM_001379200.1(TBX1):c.666C>T (p.Phe222=)
|
rs546513284
|
0.00006
|
NM_002397.5(MEF2C):c.309G>A (p.Ala103=)
|
rs567797470
|
0.00006
|
NM_002397.5(MEF2C):c.759A>G (p.Pro253=)
|
rs368575766
|
0.00006
|
NM_014679.5(CEP57):c.985A>G (p.Ser329Gly)
|
rs193213400
|
0.00006
|
NM_022455.5(NSD1):c.2031T>G (p.Ser677=)
|
rs143705256
|
0.00006
|
NM_022455.5(NSD1):c.395G>C (p.Cys132Ser)
|
rs28932174
|
0.00006
|
NM_022455.5(NSD1):c.4379-5C>T
|
rs763154004
|
0.00006
|
NM_022455.5(NSD1):c.5010C>T (p.Ala1670=)
|
rs1351246894
|
0.00006
|
NM_022455.5(NSD1):c.7160C>T (p.Pro2387Leu)
|
rs766700264
|
0.00006
|
NM_024426.6(WT1):c.1146T>A (p.Thr382=)
|
rs371168589
|
0.00006
|
NM_024426.6(WT1):c.117G>A (p.Arg39=)
|
rs537150542
|
0.00006
|
NM_024426.6(WT1):c.1269G>A (p.Glu423=)
|
rs767850636
|
0.00006
|
NM_024426.6(WT1):c.1404C>T (p.Ser468=)
|
rs374799820
|
0.00006
|
NM_000057.4(BLM):c.1194C>T (p.Asn398=)
|
rs202103556
|
0.00005
|
NM_000057.4(BLM):c.1881T>C (p.Thr627=)
|
rs148678729
|
0.00005
|
NM_000057.4(BLM):c.2025G>A (p.Ala675=)
|
rs781424357
|
0.00005
|
NM_000057.4(BLM):c.2049A>G (p.Glu683=)
|
rs201440695
|
0.00005
|
NM_000057.4(BLM):c.2599T>C (p.Leu867=)
|
rs370713907
|
0.00005
|
NM_000057.4(BLM):c.3359-12T>A
|
rs370837480
|
0.00005
|
NM_000057.4(BLM):c.4077-5T>C
|
rs200653178
|
0.00005
|
NM_000057.4(BLM):c.4224G>A (p.Pro1408=)
|
rs774367622
|
0.00005
|
NM_001211.6(BUB1B):c.2535+19A>G
|
rs748758973
|
0.00005
|
NM_001211.6(BUB1B):c.255A>G (p.Thr85=)
|
rs140273483
|
0.00005
|
NM_001211.6(BUB1B):c.783A>G (p.Pro261=)
|
rs376912927
|
0.00005
|
NM_001378120.1(MBD5):c.1449T>C (p.Ser483=)
|
rs777754350
|
0.00005
|
NM_001378120.1(MBD5):c.183G>A (p.Lys61=)
|
rs140522551
|
0.00005
|
NM_001379200.1(TBX1):c.624G>A (p.Ser208=)
|
rs754390970
|
0.00005
|
NM_001379200.1(TBX1):c.978C>T (p.Ala326=)
|
rs772039142
|
0.00005
|
NM_002397.5(MEF2C):c.980G>C (p.Ser327Thr)
|
rs796052726
|
0.00005
|
NM_014679.5(CEP57):c.1062C>T (p.Asn354=)
|
rs377021503
|
0.00005
|
NM_022455.5(NSD1):c.2266A>G (p.Asn756Asp)
|
rs142657029
|
0.00005
|
NM_022455.5(NSD1):c.3068G>A (p.Arg1023Gln)
|
rs756022347
|
0.00005
|
NM_022455.5(NSD1):c.4303-4A>G
|
rs775759198
|
0.00005
|
NM_024426.6(WT1):c.1059C>T (p.Ile353=)
|
rs527655625
|
0.00005
|
NM_024426.6(WT1):c.510C>T (p.Ser170=)
|
rs772890986
|
0.00005
|
NM_024426.6(WT1):c.615C>G (p.Pro205=)
|
rs769467940
|
0.00005
|
NM_000057.4(BLM):c.1221-8C>T
|
rs1895945158
|
0.00004
|
NM_000057.4(BLM):c.1883-13A>G
|
rs575410334
|
0.00004
|
NM_000057.4(BLM):c.201T>C (p.Val67=)
|
rs563887813
|
0.00004
|
NM_000057.4(BLM):c.2074+20A>G
|
rs375831667
|
0.00004
|
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu)
|
rs201427280
|
0.00004
|
NM_000057.4(BLM):c.2555+19C>G
|
rs769922498
|
0.00004
|
NM_000057.4(BLM):c.2721G>A (p.Thr907=)
|
rs1009065257
|
0.00004
|
NM_000057.4(BLM):c.3117A>G (p.Ile1039Met)
|
rs576199850
|
0.00004
|
NM_001172509.2(SATB2):c.1335G>A (p.Val445=)
|
rs547239131
|
0.00004
|
NM_001172509.2(SATB2):c.1387-4G>T
|
rs749603983
|
0.00004
|
NM_001172509.2(SATB2):c.1467C>T (p.Asp489=)
|
rs370291268
|
0.00004
|
NM_001172509.2(SATB2):c.1530A>G (p.Ala510=)
|
rs377035208
|
0.00004
|
NM_001172509.2(SATB2):c.1740+19C>T
|
rs757980261
|
0.00004
|
NM_001172509.2(SATB2):c.2055C>T (p.Asp685=)
|
rs747832215
|
0.00004
|
NM_001172509.2(SATB2):c.219T>G (p.Leu73=)
|
rs150919931
|
0.00004
|
NM_001172509.2(SATB2):c.408C>T (p.Asp136=)
|
rs756417252
|
0.00004
|
NM_001172509.2(SATB2):c.420C>T (p.Ala140=)
|
rs202223477
|
0.00004
|
NM_001172509.2(SATB2):c.42C>G (p.Pro14=)
|
rs773072163
|
0.00004
|
NM_001172509.2(SATB2):c.453G>A (p.Thr151=)
|
rs973674250
|
0.00004
|
NM_001211.6(BUB1B):c.1290C>T (p.Ala430=)
|
rs376379876
|
0.00004
|
NM_001211.6(BUB1B):c.1533G>A (p.Ala511=)
|
rs779879463
|
0.00004
|
NM_001211.6(BUB1B):c.1568-16G>A
|
rs372690199
|
0.00004
|
NM_001211.6(BUB1B):c.2535+16A>G
|
rs777426066
|
0.00004
|
NM_001211.6(BUB1B):c.2994G>A (p.Val998=)
|
rs771453874
|
0.00004
|
NM_001378120.1(MBD5):c.113+4A>G
|
rs201821636
|
0.00004
|
NM_001378120.1(MBD5):c.2148T>C (p.Ser716=)
|
rs746698199
|
0.00004
|
NM_001378120.1(MBD5):c.2370C>T (p.Ser790=)
|
rs376037852
|
0.00004
|
NM_001378120.1(MBD5):c.2454G>A (p.Thr818=)
|
rs769275989
|
0.00004
|
NM_001378120.1(MBD5):c.274G>A (p.Ala92Thr)
|
rs770801894
|
0.00004
|
NM_001378120.1(MBD5):c.327G>A (p.Val109=)
|
rs760258675
|
0.00004
|
NM_001378120.1(MBD5):c.3663G>T (p.Gly1221=)
|
rs774912000
|
0.00004
|
NM_001378120.1(MBD5):c.3669G>A (p.Gln1223=)
|
rs143854410
|
0.00004
|
NM_001378120.1(MBD5):c.385G>A (p.Gly129Arg)
|
rs370534487
|
0.00004
|
NM_001378120.1(MBD5):c.3881C>T (p.Pro1294Leu)
|
rs375158010
|
0.00004
|
NM_001378120.1(MBD5):c.397+20G>A
|
rs201763502
|
0.00004
|
NM_001378120.1(MBD5):c.4088T>C (p.Ile1363Thr)
|
rs748142226
|
0.00004
|
NM_001378120.1(MBD5):c.4161T>C (p.His1387=)
|
rs748321288
|
0.00004
|
NM_001378120.1(MBD5):c.4505A>G (p.Tyr1502Cys)
|
rs773873513
|
0.00004
|
NM_001378120.1(MBD5):c.4970C>A (p.Pro1657His)
|
rs775673512
|
0.00004
|
NM_001378120.1(MBD5):c.980T>C (p.Met327Thr)
|
rs776228346
|
0.00004
|
NM_001379200.1(TBX1):c.1161C>T (p.Gly387=)
|
rs941116789
|
0.00004
|
NM_001379200.1(TBX1):c.201C>G (p.Pro67=)
|
rs1310802135
|
0.00004
|
NM_001379200.1(TBX1):c.438-5C>G
|
rs972035685
|
0.00004
|
NM_001379200.1(TBX1):c.489C>T (p.Ala163=)
|
rs41298816
|
0.00004
|
NM_001379200.1(TBX1):c.867+11G>A
|
rs180798122
|
0.00004
|
NM_002397.5(MEF2C):c.111G>A (p.Val37=)
|
rs759783899
|
0.00004
|
NM_002397.5(MEF2C):c.1332C>T (p.His444=)
|
rs376439815
|
0.00004
|
NM_002397.5(MEF2C):c.252C>T (p.Ile84=)
|
rs780952466
|
0.00004
|
NM_002397.5(MEF2C):c.312C>T (p.Asp104=)
|
rs587781034
|
0.00004
|
NM_002397.5(MEF2C):c.609C>T (p.Asp203=)
|
rs997965581
|
0.00004
|
NM_002397.5(MEF2C):c.871T>C (p.Leu291=)
|
rs747980554
|
0.00004
|
NM_014679.5(CEP57):c.1273-14G>A
|
rs765062367
|
0.00004
|
NM_014679.5(CEP57):c.48C>T (p.Asn16=)
|
rs974481023
|
0.00004
|
NM_014679.5(CEP57):c.808-6A>G
|
rs372413990
|
0.00004
|
NM_014679.5(CEP57):c.885+18C>T
|
rs765633450
|
0.00004
|
NM_022455.5(NSD1):c.1605A>G (p.Leu535=)
|
rs746977419
|
0.00004
|
NM_022455.5(NSD1):c.2425G>A (p.Glu809Lys)
|
rs371421105
|
0.00004
|
NM_022455.5(NSD1):c.2586C>T (p.Ser862=)
|
rs752997132
|
0.00004
|
NM_022455.5(NSD1):c.2766G>A (p.Thr922=)
|
rs369705297
|
0.00004
|
NM_022455.5(NSD1):c.3092G>A (p.Arg1031Gln)
|
rs780306768
|
0.00004
|
NM_022455.5(NSD1):c.3178C>T (p.Pro1060Ser)
|
rs188847458
|
0.00004
|
NM_022455.5(NSD1):c.5007C>T (p.His1669=)
|
rs146414176
|
0.00004
|
NM_022455.5(NSD1):c.6259-20G>A
|
rs369478260
|
0.00004
|
NM_022455.5(NSD1):c.7145C>T (p.Thr2382Ile)
|
rs148027433
|
0.00004
|
NM_024426.6(WT1):c.1016+15C>T
|
rs752756426
|
0.00004
|
NM_024426.6(WT1):c.813G>C (p.Pro271=)
|
rs1341857958
|
0.00004
|
NM_000057.4(BLM):c.1245T>C (p.Asp415=)
|
rs768154708
|
0.00003
|
NM_000057.4(BLM):c.129A>G (p.Ser43=)
|
rs767605181
|
0.00003
|
NM_000057.4(BLM):c.1563A>G (p.Pro521=)
|
rs763118109
|
0.00003
|
NM_000057.4(BLM):c.2106T>A (p.Pro702=)
|
rs529421306
|
0.00003
|
NM_000057.4(BLM):c.2307+13A>G
|
rs371859766
|
0.00003
|
NM_000057.4(BLM):c.345G>A (p.Pro115=)
|
rs374578971
|
0.00003
|
NM_000057.4(BLM):c.3501G>A (p.Ala1167=)
|
rs752559933
|
0.00003
|
NM_000057.4(BLM):c.3729C>T (p.Thr1243=)
|
rs747293738
|
0.00003
|
NM_000057.4(BLM):c.3921C>T (p.Pro1307=)
|
rs149286215
|
0.00003
|
NM_000057.4(BLM):c.799+16T>G
|
rs370608122
|
0.00003
|
NM_001172509.2(SATB2):c.1174-6A>T
|
rs368537092
|
0.00003
|
NM_001172509.2(SATB2):c.1236A>G (p.Leu412=)
|
rs767544833
|
0.00003
|
NM_001172509.2(SATB2):c.1398G>A (p.Ser466=)
|
rs377059710
|
0.00003
|
NM_001172509.2(SATB2):c.1435G>A (p.Ala479Thr)
|
rs772617927
|
0.00003
|
NM_001172509.2(SATB2):c.1542+13T>A
|
rs1046713591
|
0.00003
|
NM_001172509.2(SATB2):c.1551G>T (p.Leu517=)
|
rs760937399
|
0.00003
|
NM_001172509.2(SATB2):c.163G>C (p.Val55Leu)
|
rs748892556
|
0.00003
|
NM_001172509.2(SATB2):c.172T>C (p.Leu58=)
|
rs761710516
|
0.00003
|
NM_001172509.2(SATB2):c.2103C>T (p.Asn701=)
|
rs529621505
|
0.00003
|
NM_001172509.2(SATB2):c.243C>T (p.His81=)
|
rs372121244
|
0.00003
|
NM_001172509.2(SATB2):c.45C>T (p.Asp15=)
|
rs771997100
|
0.00003
|
NM_001211.6(BUB1B):c.1058+9G>A
|
rs375125450
|
0.00003
|
NM_001211.6(BUB1B):c.1289-8G>A
|
rs375564551
|
0.00003
|
NM_001211.6(BUB1B):c.1308A>G (p.Ala436=)
|
rs756405366
|
0.00003
|
NM_001211.6(BUB1B):c.1368C>T (p.Ile456=)
|
rs201813238
|
0.00003
|
NM_001211.6(BUB1B):c.2536-9A>G
|
rs368585401
|
0.00003
|
NM_001211.6(BUB1B):c.2628A>G (p.Ala876=)
|
rs768648860
|
0.00003
|
NM_001211.6(BUB1B):c.2817A>G (p.Gln939=)
|
rs777802023
|
0.00003
|
NM_001211.6(BUB1B):c.387G>T (p.Gly129=)
|
rs149153123
|
0.00003
|
NM_001211.6(BUB1B):c.846T>G (p.Ala282=)
|
rs773703818
|
0.00003
|
NM_001378120.1(MBD5):c.1074T>C (p.Leu358=)
|
rs751940096
|
0.00003
|
NM_001378120.1(MBD5):c.1198G>A (p.Val400Ile)
|
rs377568191
|
0.00003
|
NM_001378120.1(MBD5):c.1304C>T (p.Ser435Phe)
|
rs768225923
|
0.00003
|
NM_001378120.1(MBD5):c.1327G>A (p.Val443Met)
|
rs137977565
|
0.00003
|
NM_001378120.1(MBD5):c.1367C>T (p.Ser456Leu)
|
rs775742332
|
0.00003
|
NM_001378120.1(MBD5):c.1902A>G (p.Thr634=)
|
rs150800810
|
0.00003
|
NM_001378120.1(MBD5):c.1962C>T (p.Asp654=)
|
rs139953766
|
0.00003
|
NM_001378120.1(MBD5):c.2519-17T>C
|
rs1038628491
|
0.00003
|
NM_001378120.1(MBD5):c.3603G>A (p.Ser1201=)
|
rs138058889
|
0.00003
|
NM_001378120.1(MBD5):c.4047C>T (p.Pro1349=)
|
rs367766748
|
0.00003
|
NM_001378120.1(MBD5):c.4125G>A (p.Ala1375=)
|
rs142981321
|
0.00003
|
NM_001378120.1(MBD5):c.4215T>C (p.His1405=)
|
rs768977000
|
0.00003
|
NM_001378120.1(MBD5):c.422G>A (p.Arg141Gln)
|
rs200245855
|
0.00003
|
NM_001378120.1(MBD5):c.4566C>T (p.His1522=)
|
rs1354346236
|
0.00003
|
NM_001378120.1(MBD5):c.4746G>T (p.Val1582=)
|
rs138337378
|
0.00003
|
NM_001378120.1(MBD5):c.4887G>A (p.Leu1629=)
|
rs779662045
|
0.00003
|
NM_001378120.1(MBD5):c.4920C>T (p.Asp1640=)
|
rs768363712
|
0.00003
|
NM_001378120.1(MBD5):c.5058T>C (p.His1686=)
|
rs1466985995
|
0.00003
|
NM_001378120.1(MBD5):c.81T>G (p.Arg27=)
|
rs746075256
|
0.00003
|
NM_001378120.1(MBD5):c.884C>G (p.Thr295Ser)
|
rs368339420
|
0.00003
|
NM_001378120.1(MBD5):c.943T>G (p.Cys315Gly)
|
rs770076687
|
0.00003
|
NM_001378120.1(MBD5):c.961A>G (p.Met321Val)
|
rs369869865
|
0.00003
|
NM_001379200.1(TBX1):c.1244G>A (p.Gly415Asp)
|
rs756543718
|
0.00003
|
NM_001379200.1(TBX1):c.1359C>T (p.His453=)
|
rs1220689917
|
0.00003
|
NM_001379200.1(TBX1):c.1401C>G (p.Pro467=)
|
rs753192876
|
0.00003
|
NM_001379200.1(TBX1):c.1440A>C (p.Ala480=)
|
rs777313046
|
0.00003
|
NM_001379200.1(TBX1):c.711+7G>A
|
rs369332029
|
0.00003
|
NM_002397.5(MEF2C):c.1299G>C (p.Gly433=)
|
rs771241026
|
0.00003
|
NM_002397.5(MEF2C):c.225G>A (p.Pro75=)
|
rs779924552
|
0.00003
|
NM_002397.5(MEF2C):c.397T>C (p.Leu133=)
|
rs1345329569
|
0.00003
|
NM_002397.5(MEF2C):c.637+19C>G
|
rs371668591
|
0.00003
|
NM_002397.5(MEF2C):c.810+14A>G
|
rs376014780
|
0.00003
|
NM_014679.5(CEP57):c.1008A>G (p.Val336=)
|
rs933546735
|
0.00003
|
NM_022455.5(NSD1):c.1830A>G (p.Gln610=)
|
rs759706066
|
0.00003
|
NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg)
|
rs570278983
|
0.00003
|
NM_022455.5(NSD1):c.3588G>T (p.Val1196=)
|
rs549662786
|
0.00003
|
NM_022455.5(NSD1):c.3698G>A (p.Arg1233Gln)
|
rs774868314
|
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.454C>T (p.His152Tyr)
|
rs765845162
|
0.00003
|
NM_022455.5(NSD1):c.5532G>A (p.Arg1844=)
|
rs201357386
|
0.00003
|
NM_022455.5(NSD1):c.5934A>G (p.Glu1978=)
|
rs747791387
|
0.00003
|
NM_022455.5(NSD1):c.6001C>T (p.Leu2001=)
|
rs587784172
|
0.00003
|
NM_022455.5(NSD1):c.6468A>G (p.Lys2156=)
|
rs752628095
|
0.00003
|
NM_022455.5(NSD1):c.682C>G (p.Pro228Ala)
|
rs770522999
|
0.00003
|
NM_022455.5(NSD1):c.7025C>T (p.Ser2342Leu)
|
rs201609442
|
0.00003
|
NM_022455.5(NSD1):c.7452A>G (p.Pro2484=)
|
rs146676933
|
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.1017-8G>A
|
rs561297778
|
0.00003
|
NM_024426.6(WT1):c.1038C>T (p.Ser346=)
|
rs750018485
|
0.00003
|
NM_024426.6(WT1):c.1116T>C (p.Asp372=)
|
rs901264376
|
0.00003
|
NM_024426.6(WT1):c.258C>T (p.Pro86=)
|
rs1389359790
|
0.00003
|
NM_024426.6(WT1):c.273G>A (p.Leu91=)
|
rs1396104394
|
0.00003
|
NM_024426.6(WT1):c.327G>C (p.Pro109=)
|
rs777059515
|
0.00003
|
NM_024426.6(WT1):c.432C>T (p.Phe144=)
|
rs754173303
|
0.00003
|
NM_080647.1(TBX1):c.15C>A (p.Thr5=)
|
rs764497467
|
0.00003
|
NM_000057.4(BLM):c.1134C>T (p.His378=)
|
rs757896754
|
0.00002
|
NM_000057.4(BLM):c.1220+14C>T
|
rs762528536
|
0.00002
|
NM_000057.4(BLM):c.1220+9A>G
|
rs775121844
|
0.00002
|
NM_000057.4(BLM):c.1236G>A (p.Thr412=)
|
rs762617509
|
0.00002
|
NM_000057.4(BLM):c.1308T>C (p.Asp436=)
|
rs140178590
|
0.00002
|
NM_000057.4(BLM):c.2194-14A>G
|
rs778980650
|
0.00002
|
NM_000057.4(BLM):c.2407-9T>C
|
rs749544427
|
0.00002
|
NM_000057.4(BLM):c.2655C>T (p.His885=)
|
rs1404506326
|
0.00002
|
NM_000057.4(BLM):c.2823+16A>C
|
rs375317070
|
0.00002
|
NM_000057.4(BLM):c.2871C>T (p.Asp957=)
|
rs878853554
|
0.00002
|
NM_000057.4(BLM):c.3019+11C>A
|
rs776916080
|
0.00002
|
NM_000057.4(BLM):c.3019+7T>C
|
rs761087545
|
0.00002
|
NM_000057.4(BLM):c.3237C>T (p.Asp1079=)
|
rs148237075
|
0.00002
|
NM_000057.4(BLM):c.3504C>T (p.Ile1168=)
|
rs758199564
|
0.00002
|
NM_000057.4(BLM):c.3558+15A>G
|
rs557695835
|
0.00002
|
NM_000057.4(BLM):c.3559-13C>G
|
rs368473682
|
0.00002
|
NM_000057.4(BLM):c.3951G>A (p.Glu1317=)
|
rs138188609
|
0.00002
|
NM_000057.4(BLM):c.4128C>T (p.Ile1376=)
|
rs1314592673
|
0.00002
|
NM_000057.4(BLM):c.792T>C (p.Asp264=)
|
rs764442592
|
0.00002
|
NM_000057.4(BLM):c.894G>A (p.Thr298=)
|
rs762144355
|
0.00002
|
NM_000057.4(BLM):c.918A>G (p.Glu306=)
|
rs760806762
|
0.00002
|
NM_000057.4(BLM):c.963G>A (p.Thr321=)
|
rs779461745
|
0.00002
|
NM_001172509.2(SATB2):c.1212T>C (p.Pro404=)
|
rs1486060390
|
0.00002
|
NM_001172509.2(SATB2):c.1239A>G (p.Val413=)
|
rs148608261
|
0.00002
|
NM_001172509.2(SATB2):c.1404G>A (p.Pro468=)
|
rs542911998
|
0.00002
|
NM_001172509.2(SATB2):c.1509C>T (p.Ala503=)
|
rs771083610
|
0.00002
|
NM_001172509.2(SATB2):c.1543-20G>A
|
rs776839849
|
0.00002
|
NM_001172509.2(SATB2):c.1740+16C>T
|
rs777264256
|
0.00002
|
NM_001172509.2(SATB2):c.1740+9C>T
|
rs745695602
|
0.00002
|
NM_001172509.2(SATB2):c.1761T>C (p.Ser587=)
|
rs752279524
|
0.00002
|
NM_001172509.2(SATB2):c.1830T>C (p.Ser610=)
|
rs759470075
|
0.00002
|
NM_001172509.2(SATB2):c.1842G>A (p.Lys614=)
|
rs756772038
|
0.00002
|
NM_001172509.2(SATB2):c.1851T>C (p.Ser617=)
|
rs188200171
|
0.00002
|
NM_001172509.2(SATB2):c.1938C>T (p.His646=)
|
rs764543183
|
0.00002
|
NM_001172509.2(SATB2):c.2007C>T (p.His669=)
|
rs764418629
|
0.00002
|
NM_001172509.2(SATB2):c.2046C>T (p.Ser682=)
|
rs1378818036
|
0.00002
|
NM_001172509.2(SATB2):c.381C>T (p.Pro127=)
|
rs746473092
|
0.00002
|
NM_001172509.2(SATB2):c.411G>A (p.Ala137=)
|
rs781353036
|
0.00002
|
NM_001172509.2(SATB2):c.756A>G (p.Pro252=)
|
rs375364851
|
0.00002
|
NM_001172509.2(SATB2):c.846C>T (p.Ile282=)
|
rs373578751
|
0.00002
|
NM_001172509.2(SATB2):c.915A>G (p.Gln305=)
|
rs1440871358
|
0.00002
|
NM_001211.6(BUB1B):c.1401+18A>G
|
rs2037541338
|
0.00002
|
NM_001211.6(BUB1B):c.2143+16C>A
|
rs768994715
|
0.00002
|
NM_001211.6(BUB1B):c.2143+20A>G
|
rs993334844
|
0.00002
|
NM_001211.6(BUB1B):c.2385+7C>T
|
rs779458273
|
0.00002
|
NM_001211.6(BUB1B):c.2481A>G (p.Gln827=)
|
rs76294284
|
0.00002
|
NM_001211.6(BUB1B):c.2760G>C (p.Val920=)
|
rs151035388
|
0.00002
|
NM_001211.6(BUB1B):c.2958-10A>G
|
rs759331631
|
0.00002
|
NM_001211.6(BUB1B):c.576G>A (p.Gln192=)
|
rs761648006
|
0.00002
|
NM_001211.6(BUB1B):c.751+9G>A
|
rs372133651
|
0.00002
|
NM_001211.6(BUB1B):c.810T>C (p.Ser270=)
|
rs1205669680
|
0.00002
|
NM_001378120.1(MBD5):c.1008A>G (p.Pro336=)
|
rs1451243161
|
0.00002
|
NM_001378120.1(MBD5):c.1591A>G (p.Asn531Asp)
|
rs757922781
|
0.00002
|
NM_001378120.1(MBD5):c.1606C>G (p.Pro536Ala)
|
rs748471992
|
0.00002
|
NM_001378120.1(MBD5):c.1653A>G (p.Val551=)
|
rs765225789
|
0.00002
|
NM_001378120.1(MBD5):c.1700A>G (p.Asn567Ser)
|
rs116095017
|
0.00002
|
NM_001378120.1(MBD5):c.1803C>T (p.Ser601=)
|
rs772321704
|
0.00002
|
NM_001378120.1(MBD5):c.1827C>T (p.Ala609=)
|
rs761655364
|
0.00002
|
NM_001378120.1(MBD5):c.1920T>C (p.Gly640=)
|
rs1031744379
|
0.00002
|
NM_001378120.1(MBD5):c.2274C>T (p.Ala758=)
|
rs374820728
|
0.00002
|
NM_001378120.1(MBD5):c.2286C>T (p.His762=)
|
rs370574043
|
0.00002
|
NM_001378120.1(MBD5):c.258C>T (p.Thr86=)
|
rs542137271
|
0.00002
|
NM_001378120.1(MBD5):c.2627G>A (p.Gly876Glu)
|
rs766460176
|
0.00002
|
NM_001378120.1(MBD5):c.2678G>A (p.Gly893Asp)
|
rs753761893
|
0.00002
|
NM_001378120.1(MBD5):c.2751C>G (p.Ser917Arg)
|
rs935799783
|
0.00002
|
NM_001378120.1(MBD5):c.2789A>C (p.Gln930Pro)
|
rs564759063
|
0.00002
|
NM_001378120.1(MBD5):c.3578A>G (p.Asn1193Ser)
|
rs754193314
|
0.00002
|
NM_001378120.1(MBD5):c.3585A>G (p.Gln1195=)
|
rs762160418
|
0.00002
|
NM_001378120.1(MBD5):c.3586C>G (p.Leu1196Val)
|
rs765790042
|
0.00002
|
NM_001378120.1(MBD5):c.3924C>T (p.Leu1308=)
|
rs146096552
|
0.00002
|
NM_001378120.1(MBD5):c.3951C>T (p.Ser1317=)
|
rs762115057
|
0.00002
|
NM_001378120.1(MBD5):c.4306C>T (p.Pro1436Ser)
|
rs776446296
|
0.00002
|
NM_001378120.1(MBD5):c.4351C>T (p.His1451Tyr)
|
rs753060251
|
0.00002
|
NM_001378120.1(MBD5):c.5092C>T (p.Leu1698=)
|
rs763196924
|
0.00002
|
NM_001378120.1(MBD5):c.5097C>T (p.Asp1699=)
|
rs755570293
|
0.00002
|
NM_001378120.1(MBD5):c.675G>A (p.Ala225=)
|
rs775582219
|
0.00002
|
NM_001378120.1(MBD5):c.707C>T (p.Ser236Leu)
|
rs766179352
|
0.00002
|
NM_001378120.1(MBD5):c.720G>A (p.Arg240=)
|
rs727503997
|
0.00002
|
NM_001378120.1(MBD5):c.917A>G (p.Lys306Arg)
|
rs1278028464
|
0.00002
|
NM_001378120.1(MBD5):c.936A>C (p.Lys312Asn)
|
rs142815487
|
0.00002
|
NM_001379200.1(TBX1):c.1041G>T (p.Ala347=)
|
rs1381402015
|
0.00002
|
NM_001379200.1(TBX1):c.1170C>T (p.Gly390=)
|
rs1936852453
|
0.00002
|
NM_001379200.1(TBX1):c.1253A>G (p.Glu418Gly)
|
rs745858331
|
0.00002
|
NM_001379200.1(TBX1):c.1485G>T (p.Pro495=)
|
rs750574356
|
0.00002
|
NM_001379200.1(TBX1):c.270C>A (p.Ser90Arg)
|
rs1478778776
|
0.00002
|
NM_001379200.1(TBX1):c.393G>A (p.Glu131=)
|
rs892270450
|
0.00002
|
NM_001379200.1(TBX1):c.540-12G>A
|
rs1243576480
|
0.00002
|
NM_001379200.1(TBX1):c.543C>T (p.Tyr181=)
|
rs772390067
|
0.00002
|
NM_001379200.1(TBX1):c.582C>T (p.Ala194=)
|
rs775502763
|
0.00002
|
NM_001379200.1(TBX1):c.618G>A (p.Pro206=)
|
rs1177792242
|
0.00002
|
NM_002397.5(MEF2C):c.1020C>T (p.Ser340=)
|
rs756799434
|
0.00002
|
NM_002397.5(MEF2C):c.489A>G (p.Ser163=)
|
rs781632867
|
0.00002
|
NM_002397.5(MEF2C):c.615G>A (p.Thr205=)
|
rs776496777
|
0.00002
|
NM_002397.5(MEF2C):c.639G>C (p.Gly213=)
|
rs757188352
|
0.00002
|
NM_002397.5(MEF2C):c.810+10A>T
|
rs587783748
|
0.00002
|
NM_002397.5(MEF2C):c.822C>T (p.Val274=)
|
rs1282449699
|
0.00002
|
NM_002397.5(MEF2C):c.834+16G>A
|
rs760064638
|
0.00002
|
NM_002397.5(MEF2C):c.994T>C (p.Ser332Pro)
|
rs200887424
|
0.00002
|
NM_014679.5(CEP57):c.1128-10T>C
|
rs754694620
|
0.00002
|
NM_014679.5(CEP57):c.46-8T>A
|
rs755051766
|
0.00002
|
NM_014679.5(CEP57):c.633A>G (p.Gln211=)
|
rs200535773
|
0.00002
|
NM_022455.5(NSD1):c.1176C>T (p.Phe392=)
|
rs763543904
|
0.00002
|
NM_022455.5(NSD1):c.1500A>G (p.Arg500=)
|
rs1469000222
|
0.00002
|
NM_022455.5(NSD1):c.1763A>G (p.Asp588Gly)
|
rs1046371505
|
0.00002
|
NM_022455.5(NSD1):c.1992A>G (p.Glu664=)
|
rs770274186
|
0.00002
|
NM_022455.5(NSD1):c.2170G>A (p.Glu724Lys)
|
rs771456995
|
0.00002
|
NM_022455.5(NSD1):c.222A>G (p.Arg74=)
|
rs201780407
|
0.00002
|
NM_022455.5(NSD1):c.241A>G (p.Met81Val)
|
rs763781326
|
0.00002
|
NM_022455.5(NSD1):c.2991C>T (p.Gly997=)
|
rs751017119
|
0.00002
|
NM_022455.5(NSD1):c.3267T>A (p.Asp1089Glu)
|
rs1406037834
|
0.00002
|
NM_022455.5(NSD1):c.3286C>T (p.His1096Tyr)
|
rs202208033
|
0.00002
|
NM_022455.5(NSD1):c.5082C>T (p.Thr1694=)
|
rs587784136
|
0.00002
|
NM_022455.5(NSD1):c.5147-20A>C
|
rs1239151310
|
0.00002
|
NM_022455.5(NSD1):c.5510-10G>A
|
rs767198805
|
0.00002
|
NM_022455.5(NSD1):c.6848T>C (p.Leu2283Pro)
|
rs776592297
|
0.00002
|
NM_022455.5(NSD1):c.7164G>A (p.Pro2388=)
|
rs780619128
|
0.00002
|
NM_022455.5(NSD1):c.7923T>C (p.Ala2641=)
|
rs147033795
|
0.00002
|
NM_022455.5(NSD1):c.8025A>G (p.Gln2675=)
|
rs199895437
|
0.00002
|
NM_024426.6(WT1):c.1017-4G>C
|
rs1043846933
|
0.00002
|
NM_024426.6(WT1):c.1114-15A>T
|
rs776971636
|
0.00002
|
NM_024426.6(WT1):c.1264+13G>A
|
rs769034786
|
0.00002
|
NM_024426.6(WT1):c.1515C>A (p.Val505=)
|
rs1338629886
|
0.00002
|
NM_024426.6(WT1):c.1563G>A (p.Ala521=)
|
rs202118284
|
0.00002
|
NM_024426.6(WT1):c.159C>T (p.Ala53=)
|
rs1021307133
|
0.00002
|
NM_024426.6(WT1):c.198G>T (p.Ala66=)
|
rs955105743
|
0.00002
|
NM_024426.6(WT1):c.297G>A (p.Leu99=)
|
rs1407193832
|
0.00002
|
NM_024426.6(WT1):c.417G>A (p.Pro139=)
|
rs758361767
|
0.00002
|
NM_024426.6(WT1):c.627C>T (p.Ser209=)
|
rs761530541
|
0.00002
|
NM_024426.6(WT1):c.675C>T (p.Val225=)
|
rs1172028723
|
0.00002
|
NM_024426.6(WT1):c.687G>C (p.Gly229=)
|
rs760001898
|
0.00002
|
NM_024426.6(WT1):c.711C>T (p.Pro237=)
|
rs183263057
|
0.00002
|
NM_024426.6(WT1):c.714G>T (p.Ser238=)
|
rs772409488
|
0.00002
|
NM_024426.6(WT1):c.784+11G>A
|
rs376463157
|
0.00002
|
NM_024426.6(WT1):c.78G>A (p.Gly26=)
|
rs1240715155
|
0.00002
|
NM_024426.6(WT1):c.852C>G (p.Gly284=)
|
rs548704325
|
0.00002
|
NM_024426.6(WT1):c.996A>G (p.Lys332=)
|
rs758410591
|
0.00002
|
NM_000057.4(BLM):c.1038G>A (p.Glu346=)
|
rs1181692024
|
0.00001
|
NM_000057.4(BLM):c.1088-15A>G
|
rs757626398
|
0.00001
|
NM_000057.4(BLM):c.1088-20A>G
|
rs1895929728
|
0.00001
|
NM_000057.4(BLM):c.1191G>C (p.Gly397=)
|
rs780393464
|
0.00001
|
NM_000057.4(BLM):c.1220+17C>T
|
rs763676199
|
0.00001
|
NM_000057.4(BLM):c.1266T>C (p.Ser422=)
|
rs1895947616
|
0.00001
|
NM_000057.4(BLM):c.1275C>A (p.Gly425=)
|
rs1475915995
|
0.00001
|
NM_000057.4(BLM):c.1305T>C (p.Leu435=)
|
rs778967807
|
0.00001
|
NM_000057.4(BLM):c.1419C>T (p.Thr473=)
|
rs200051680
|
0.00001
|
NM_000057.4(BLM):c.1482C>A (p.Thr494=)
|
rs1596229985
|
0.00001
|
NM_000057.4(BLM):c.1486T>C (p.Leu496=)
|
rs1596229989
|
0.00001
|
NM_000057.4(BLM):c.1497C>T (p.Ser499=)
|
rs540772424
|
0.00001
|
NM_000057.4(BLM):c.1536A>G (p.Gly512=)
|
rs777277614
|
0.00001
|
NM_000057.4(BLM):c.1551C>T (p.Ser517=)
|
rs775878725
|
0.00001
|
NM_000057.4(BLM):c.1566A>G (p.Gly522=)
|
rs1895965477
|
0.00001
|
NM_000057.4(BLM):c.159A>G (p.Ser53=)
|
rs753606820
|
0.00001
|
NM_000057.4(BLM):c.1674A>T (p.Ile558=)
|
rs770573584
|
0.00001
|
NM_000057.4(BLM):c.1695T>C (p.Asp565=)
|
rs1343910502
|
0.00001
|
NM_000057.4(BLM):c.1785A>T (p.Ser595=)
|
rs79871543
|
0.00001
|
NM_000057.4(BLM):c.1791A>G (p.Ser597=)
|
rs1895976551
|
0.00001
|
NM_000057.4(BLM):c.1797A>G (p.Arg599=)
|
rs745353821
|
0.00001
|
NM_000057.4(BLM):c.1833A>G (p.Ser611=)
|
rs747181657
|
0.00001
|
NM_000057.4(BLM):c.1854C>T (p.Asn618=)
|
rs371519654
|
0.00001
|
NM_000057.4(BLM):c.1863G>A (p.Glu621=)
|
rs374965438
|
0.00001
|
NM_000057.4(BLM):c.1878T>C (p.Tyr626=)
|
rs1176677177
|
0.00001
|
NM_000057.4(BLM):c.1882+20A>T
|
rs773201778
|
0.00001
|
NM_000057.4(BLM):c.1905A>G (p.Ala635=)
|
rs747122267
|
0.00001
|
NM_000057.4(BLM):c.1926G>A (p.Glu642=)
|
rs763017658
|
0.00001
|
NM_000057.4(BLM):c.2017C>T (p.Leu673=)
|
rs1896030349
|
0.00001
|
NM_000057.4(BLM):c.2038C>T (p.Leu680=)
|
rs1250342410
|
0.00001
|
NM_000057.4(BLM):c.2058T>C (p.Phe686=)
|
rs748410729
|
0.00001
|
NM_000057.4(BLM):c.2070G>A (p.Pro690=)
|
rs148078150
|
0.00001
|
NM_000057.4(BLM):c.2118T>C (p.Ser706=)
|
rs1896094006
|
0.00001
|
NM_000057.4(BLM):c.2169A>G (p.Gln723=)
|
rs781635047
|
0.00001
|
NM_000057.4(BLM):c.2193+17C>T
|
rs749297090
|
0.00001
|
NM_000057.4(BLM):c.2193+19A>G
|
rs374456610
|
0.00001
|
NM_000057.4(BLM):c.2193+9T>C
|
rs780311860
|
0.00001
|
NM_000057.4(BLM):c.2194-20T>C
|
rs754006696
|
0.00001
|
NM_000057.4(BLM):c.2194-6A>G
|
rs946104255
|
0.00001
|
NM_000057.4(BLM):c.2202T>C (p.Ala734=)
|
rs1596235728
|
0.00001
|
NM_000057.4(BLM):c.2211G>C (p.Leu737=)
|
rs933356579
|
0.00001
|
NM_000057.4(BLM):c.2241A>G (p.Thr747=)
|
rs1060503987
|
0.00001
|
NM_000057.4(BLM):c.2244T>C (p.Asn748=)
|
rs1223636319
|
0.00001
|
NM_000057.4(BLM):c.2277C>T (p.Ile759=)
|
rs761106964
|
0.00001
|
NM_000057.4(BLM):c.227C>T (p.Pro76Leu)
|
rs774515970
|
0.00001
|
NM_000057.4(BLM):c.2289A>G (p.Leu763=)
|
rs1567044034
|
0.00001
|
NM_000057.4(BLM):c.2307+10T>G
|
rs755168095
|
0.00001
|
NM_000057.4(BLM):c.2308-5C>T
|
rs957805754
|
0.00001
|
NM_000057.4(BLM):c.2308-6G>A
|
rs1219227761
|
0.00001
|
NM_000057.4(BLM):c.2310C>T (p.Ile770=)
|
rs759705000
|
0.00001
|
NM_000057.4(BLM):c.2325A>G (p.Arg775=)
|
rs1182162934
|
0.00001
|
NM_000057.4(BLM):c.2370A>G (p.Ala790=)
|
rs747537954
|
0.00001
|
NM_000057.4(BLM):c.2397T>C (p.Cys799=)
|
rs771209978
|
0.00001
|
NM_000057.4(BLM):c.2406+12T>C
|
rs988984153
|
0.00001
|
NM_000057.4(BLM):c.2407-20G>A
|
rs374279601
|
0.00001
|
NM_000057.4(BLM):c.2454C>G (p.Arg818=)
|
rs746409922
|
0.00001
|
NM_000057.4(BLM):c.2490G>A (p.Thr830=)
|
rs765233032
|
0.00001
|
NM_000057.4(BLM):c.2505C>G (p.Pro835=)
|
rs1023396216
|
0.00001
|
NM_000057.4(BLM):c.2517G>A (p.Lys839=)
|
rs1353519492
|
0.00001
|
NM_000057.4(BLM):c.252A>G (p.Gln84=)
|
rs370062646
|
0.00001
|
NM_000057.4(BLM):c.2550T>C (p.Pro850=)
|
rs749718344
|
0.00001
|
NM_000057.4(BLM):c.2555+15G>A
|
rs376896850
|
0.00001
|
NM_000057.4(BLM):c.2555+20G>A
|
rs762930185
|
0.00001
|
NM_000057.4(BLM):c.2555+8G>A
|
rs1388713132
|
0.00001
|
NM_000057.4(BLM):c.2604G>A (p.Pro868=)
|
rs768447097
|
0.00001
|
NM_000057.4(BLM):c.2610G>A (p.Lys870=)
|
rs905435014
|
0.00001
|
NM_000057.4(BLM):c.261G>A (p.Lys87=)
|
rs372668612
|
0.00001
|
NM_000057.4(BLM):c.2647A>C (p.Arg883=)
|
rs1035944262
|
0.00001
|
NM_000057.4(BLM):c.2661A>G (p.Pro887=)
|
rs753160480
|
0.00001
|
NM_000057.4(BLM):c.2662+13A>G
|
rs778144758
|
0.00001
|
NM_000057.4(BLM):c.2662+8C>G
|
rs1330037075
|
0.00001
|
NM_000057.4(BLM):c.2663-5G>C
|
rs1161787867
|
0.00001
|
NM_000057.4(BLM):c.2679T>C (p.Ile893=)
|
rs751945434
|
0.00001
|
NM_000057.4(BLM):c.267C>T (p.Phe89=)
|
rs758297574
|
0.00001
|
NM_000057.4(BLM):c.2691C>T (p.Ser897=)
|
rs756155242
|
0.00001
|
NM_000057.4(BLM):c.2709C>A (p.Thr903=)
|
rs1555422522
|
0.00001
|
NM_000057.4(BLM):c.2763C>T (p.Gly921=)
|
rs1170782980
|
0.00001
|
NM_000057.4(BLM):c.2784T>C (p.Asp928=)
|
rs1032746564
|
0.00001
|
NM_000057.4(BLM):c.2787A>G (p.Glu929=)
|
rs764679551
|
0.00001
|
NM_000057.4(BLM):c.2823+8T>C
|
rs767928947
|
0.00001
|
NM_000057.4(BLM):c.2824-18C>A
|
rs958623858
|
0.00001
|
NM_000057.4(BLM):c.2868G>A (p.Pro956=)
|
rs199861261
|
0.00001
|
NM_000057.4(BLM):c.2979T>C (p.Tyr993=)
|
rs1896887595
|
0.00001
|
NM_000057.4(BLM):c.2985T>C (p.Tyr995=)
|
rs1367612540
|
0.00001
|
NM_000057.4(BLM):c.3019+16T>C
|
rs759695033
|
0.00001
|
NM_000057.4(BLM):c.3020-11A>G
|
rs1331229405
|
0.00001
|
NM_000057.4(BLM):c.3042T>C (p.His1014=)
|
rs1060503986
|
0.00001
|
NM_000057.4(BLM):c.3060C>T (p.Phe1020=)
|
rs763020597
|
0.00001
|
NM_000057.4(BLM):c.309A>T (p.Gly103=)
|
rs1596218155
|
0.00001
|
NM_000057.4(BLM):c.3195T>C (p.Asn1065=)
|
rs1297274221
|
0.00001
|
NM_000057.4(BLM):c.3210+10G>T
|
rs765057634
|
0.00001
|
NM_000057.4(BLM):c.3210+4A>G
|
rs776621429
|
0.00001
|
NM_000057.4(BLM):c.3211-11T>C
|
rs1205725795
|
0.00001
|
NM_000057.4(BLM):c.3211-14C>G
|
rs756488961
|
0.00001
|
NM_000057.4(BLM):c.3240T>C (p.Asp1080=)
|
rs1436960569
|
0.00001
|
NM_000057.4(BLM):c.3252T>C (p.Ile1084=)
|
rs751147296
|
0.00001
|
NM_000057.4(BLM):c.3267A>G (p.Gln1089=)
|
rs1396484162
|
0.00001
|
NM_000057.4(BLM):c.3345C>T (p.Val1115=)
|
rs773893026
|
0.00001
|
NM_000057.4(BLM):c.3348C>T (p.Asp1116=)
|
rs372697241
|
0.00001
|
NM_000057.4(BLM):c.3358+15T>C
|
rs761215968
|
0.00001
|
NM_000057.4(BLM):c.3358+16T>C
|
rs766854886
|
0.00001
|
NM_000057.4(BLM):c.3359-17C>T
|
rs1001673659
|
0.00001
|
NM_000057.4(BLM):c.3359-9T>C
|
rs1060503988
|
0.00001
|
NM_000057.4(BLM):c.3396A>G (p.Gly1132=)
|
rs1897213577
|
0.00001
|
NM_000057.4(BLM):c.3468T>C (p.Asp1156=)
|
rs1325465971
|
0.00001
|
NM_000057.4(BLM):c.3474C>T (p.Asp1158=)
|
rs1158977476
|
0.00001
|
NM_000057.4(BLM):c.3492T>C (p.Asn1164=)
|
rs762058424
|
0.00001
|
NM_000057.4(BLM):c.3510T>C (p.Tyr1170=)
|
rs771325448
|
0.00001
|
NM_000057.4(BLM):c.3513G>A (p.Val1171=)
|
rs780615126
|
0.00001
|
NM_000057.4(BLM):c.3519C>T (p.Leu1173=)
|
rs769119431
|
0.00001
|
NM_000057.4(BLM):c.3534A>G (p.Gln1178=)
|
rs769177306
|
0.00001
|
NM_000057.4(BLM):c.3585C>T (p.Ser1195=)
|
rs1023322113
|
0.00001
|
NM_000057.4(BLM):c.3609G>A (p.Ala1203=)
|
rs151114049
|
0.00001
|
NM_000057.4(BLM):c.3660A>G (p.Gly1220=)
|
rs779564538
|
0.00001
|
NM_000057.4(BLM):c.3690G>A (p.Gly1230=)
|
rs1177156588
|
0.00001
|
NM_000057.4(BLM):c.3699T>C (p.Phe1233=)
|
rs773406498
|
0.00001
|
NM_000057.4(BLM):c.372C>T (p.Asn124=)
|
rs776602757
|
0.00001
|
NM_000057.4(BLM):c.3752-6G>A
|
rs747358693
|
0.00001
|
NM_000057.4(BLM):c.3756T>A (p.Ser1252=)
|
rs771209895
|
0.00001
|
NM_000057.4(BLM):c.3822T>C (p.Tyr1274=)
|
rs578242272
|
0.00001
|
NM_000057.4(BLM):c.3825T>C (p.Gly1275=)
|
rs1330805869
|
0.00001
|
NM_000057.4(BLM):c.3840A>G (p.Ser1280=)
|
rs759221501
|
0.00001
|
NM_000057.4(BLM):c.3867A>G (p.Thr1289=)
|
rs759000443
|
0.00001
|
NM_000057.4(BLM):c.3874+12G>A
|
rs563655888
|
0.00001
|
NM_000057.4(BLM):c.3874+14C>T
|
rs200469326
|
0.00001
|
NM_000057.4(BLM):c.3874+18del
|
rs760501703
|
0.00001
|
NM_000057.4(BLM):c.3874+19G>A
|
rs1352718454
|
0.00001
|
NM_000057.4(BLM):c.3875-6T>C
|
rs1021714718
|
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.4023C>T (p.Ala1341=)
|
rs1596273681
|
0.00001
|
NM_000057.4(BLM):c.405T>C (p.Ala135=)
|
rs1489975728
|
0.00001
|
NM_000057.4(BLM):c.4119C>G (p.Ser1373=)
|
rs1210181566
|
0.00001
|
NM_000057.4(BLM):c.4158T>G (p.Ser1386=)
|
rs746522338
|
0.00001
|
NM_000057.4(BLM):c.417A>G (p.Leu139=)
|
rs756759106
|
0.00001
|
NM_000057.4(BLM):c.4188G>A (p.Leu1396=)
|
rs1226163466
|
0.00001
|
NM_000057.4(BLM):c.4206G>A (p.Pro1402=)
|
rs775975894
|
0.00001
|
NM_000057.4(BLM):c.437A>T (p.Asp146Val)
|
rs902876126
|
0.00001
|
NM_000057.4(BLM):c.453C>A (p.Ile151=)
|
rs1200887609
|
0.00001
|
NM_000057.4(BLM):c.45T>C (p.Arg15=)
|
rs1458732220
|
0.00001
|
NM_000057.4(BLM):c.528C>T (p.His176=)
|
rs1414955135
|
0.00001
|
NM_000057.4(BLM):c.540A>T (p.Val180=)
|
rs763776756
|
0.00001
|
NM_000057.4(BLM):c.558A>C (p.Ser186=)
|
rs982183816
|
0.00001
|
NM_000057.4(BLM):c.609A>G (p.Thr203=)
|
rs1448719185
|
0.00001
|
NM_000057.4(BLM):c.696C>A (p.Ser232Arg)
|
rs201845548
|
0.00001
|
NM_000057.4(BLM):c.702T>C (p.Asp234=)
|
rs1271054585
|
0.00001
|
NM_000057.4(BLM):c.711C>T (p.Cys237=)
|
rs752961612
|
0.00001
|
NM_000057.4(BLM):c.870A>G (p.Glu290=)
|
rs757016773
|
0.00001
|
NM_000057.4(BLM):c.888T>C (p.Tyr296=)
|
rs139277089
|
0.00001
|
NM_000057.4(BLM):c.909T>C (p.Pro303=)
|
rs767770187
|
0.00001
|
NM_000057.4(BLM):c.933T>C (p.Ala311=)
|
rs1413246062
|
0.00001
|
NM_000057.4(BLM):c.959+17A>G
|
rs1263627625
|
0.00001
|
NM_000057.4(BLM):c.959+7T>C
|
rs1274044135
|
0.00001
|
NM_000057.4(BLM):c.960-8A>G
|
rs1895773501
|
0.00001
|
NM_001172509.2(SATB2):c.1320C>T (p.Ser440=)
|
rs770384540
|
0.00001
|
NM_001172509.2(SATB2):c.1380C>T (p.Thr460=)
|
rs996522781
|
0.00001
|
NM_001172509.2(SATB2):c.1386+13C>T
|
rs1403696762
|
0.00001
|
NM_001172509.2(SATB2):c.1428G>A (p.Val476=)
|
rs753471227
|
0.00001
|
NM_001172509.2(SATB2):c.1543-10C>G
|
rs747190227
|
0.00001
|
NM_001172509.2(SATB2):c.156C>T (p.Ala52=)
|
rs1401683566
|
0.00001
|
NM_001172509.2(SATB2):c.1624C>T (p.Arg542Cys)
|
rs767163210
|
0.00001
|
NM_001172509.2(SATB2):c.1656G>A (p.Arg552=)
|
rs763647963
|
0.00001
|
NM_001172509.2(SATB2):c.169+7G>A
|
rs1038173269
|
0.00001
|
NM_001172509.2(SATB2):c.1734G>A (p.Pro578=)
|
rs937895148
|
0.00001
|
NM_001172509.2(SATB2):c.1770C>A (p.Ala590=)
|
rs143857389
|
0.00001
|
NM_001172509.2(SATB2):c.1773G>A (p.Lys591=)
|
rs371490566
|
0.00001
|
NM_001172509.2(SATB2):c.1827C>T (p.Asp609=)
|
rs1268971989
|
0.00001
|
NM_001172509.2(SATB2):c.1999C>A (p.Arg667=)
|
rs751977362
|
0.00001
|
NM_001172509.2(SATB2):c.2073C>T (p.Asp691=)
|
rs1692184330
|
0.00001
|
NM_001172509.2(SATB2):c.2145T>C (p.Ala715=)
|
rs753933552
|
0.00001
|
NM_001172509.2(SATB2):c.223T>C (p.Tyr75His)
|
rs760905348
|
0.00001
|
NM_001172509.2(SATB2):c.267A>G (p.Lys89=)
|
rs991579763
|
0.00001
|
NM_001172509.2(SATB2):c.303C>G (p.Leu101=)
|
rs770551232
|
0.00001
|
NM_001172509.2(SATB2):c.33G>A (p.Arg11=)
|
rs1361297597
|
0.00001
|
NM_001172509.2(SATB2):c.342C>A (p.Ala114=)
|
rs756540212
|
0.00001
|
NM_001172509.2(SATB2):c.346+15C>T
|
rs1389213053
|
0.00001
|
NM_001172509.2(SATB2):c.372C>T (p.Asn124=)
|
rs770710917
|
0.00001
|
NM_001172509.2(SATB2):c.441T>C (p.Tyr147=)
|
rs367590994
|
0.00001
|
NM_001172509.2(SATB2):c.454T>C (p.Leu152=)
|
rs759337821
|
0.00001
|
NM_001172509.2(SATB2):c.474-16T>C
|
rs754983790
|
0.00001
|
NM_001172509.2(SATB2):c.501G>A (p.Ala167=)
|
rs761351033
|
0.00001
|
NM_001172509.2(SATB2):c.588T>C (p.Pro196=)
|
rs1689733456
|
0.00001
|
NM_001172509.2(SATB2):c.598-10T>C
|
rs995048972
|
0.00001
|
NM_001172509.2(SATB2):c.639T>C (p.Asn213=)
|
rs1409791746
|
0.00001
|
NM_001172509.2(SATB2):c.804C>T (p.Asn268=)
|
rs760068691
|
0.00001
|
NM_001211.6(BUB1B):c.1008G>A (p.Val336=)
|
rs765922572
|
0.00001
|
NM_001211.6(BUB1B):c.1038G>A (p.Glu346=)
|
rs1566820458
|
0.00001
|
NM_001211.6(BUB1B):c.1058+7G>T
|
rs904070234
|
0.00001
|
NM_001211.6(BUB1B):c.1059-10G>A
|
rs200485522
|
0.00001
|
NM_001211.6(BUB1B):c.1113T>C (p.Pro371=)
|
rs780663453
|
0.00001
|
NM_001211.6(BUB1B):c.1288+13C>T
|
rs778499288
|
0.00001
|
NM_001211.6(BUB1B):c.1289-9T>C
|
rs763327688
|
0.00001
|
NM_001211.6(BUB1B):c.132A>G (p.Ala44=)
|
rs371958222
|
0.00001
|
NM_001211.6(BUB1B):c.1419T>C (p.Pro473=)
|
rs1004969635
|
0.00001
|
NM_001211.6(BUB1B):c.1517+7C>G
|
rs752429596
|
0.00001
|
NM_001211.6(BUB1B):c.156C>T (p.Asn52=)
|
rs1214786359
|
0.00001
|
NM_001211.6(BUB1B):c.1587C>T (p.Ser529=)
|
rs374320185
|
0.00001
|
NM_001211.6(BUB1B):c.15G>A (p.Lys5=)
|
rs374433718
|
0.00001
|
NM_001211.6(BUB1B):c.1628+8del
|
rs1159029463
|
0.00001
|
NM_001211.6(BUB1B):c.1671C>G (p.Pro557=)
|
rs1236664633
|
0.00001
|
NM_001211.6(BUB1B):c.1725A>C (p.Pro575=)
|
rs1042674657
|
0.00001
|
NM_001211.6(BUB1B):c.180-7A>G
|
rs750125592
|
0.00001
|
NM_001211.6(BUB1B):c.1977C>A (p.Ile659=)
|
rs992499879
|
0.00001
|
NM_001211.6(BUB1B):c.2010-19T>A
|
rs769699093
|
0.00001
|
NM_001211.6(BUB1B):c.2144-14C>T
|
rs753821747
|
0.00001
|
NM_001211.6(BUB1B):c.2163A>G (p.Pro721=)
|
rs746054575
|
0.00001
|
NM_001211.6(BUB1B):c.2285-12C>T
|
rs761247619
|
0.00001
|
NM_001211.6(BUB1B):c.2386-4A>G
|
rs752871512
|
0.00001
|
NM_001211.6(BUB1B):c.2386-6T>C
|
rs767742757
|
0.00001
|
NM_001211.6(BUB1B):c.2386-9G>A
|
rs1189315798
|
0.00001
|
NM_001211.6(BUB1B):c.240-11C>T
|
rs779021486
|
0.00001
|
NM_001211.6(BUB1B):c.240-9C>A
|
rs372081557
|
0.00001
|
NM_001211.6(BUB1B):c.2406A>G (p.Pro802=)
|
rs757885158
|
0.00001
|
NM_001211.6(BUB1B):c.2454T>C (p.Asp818=)
|
rs749203600
|
0.00001
|
NM_001211.6(BUB1B):c.2535+15A>G
|
rs1446976292
|
0.00001
|
NM_001211.6(BUB1B):c.2634A>C (p.Ile878=)
|
rs1233769017
|
0.00001
|
NM_001211.6(BUB1B):c.2667T>C (p.Ile889=)
|
rs901161308
|
0.00001
|
NM_001211.6(BUB1B):c.2784C>T (p.Ser928=)
|
rs139066741
|
0.00001
|
NM_001211.6(BUB1B):c.2849A>G (p.Gln950Arg)
|
rs772525026
|
0.00001
|
NM_001211.6(BUB1B):c.2889A>G (p.Leu963=)
|
rs768869879
|
0.00001
|
NM_001211.6(BUB1B):c.2957+16T>C
|
rs767194740
|
0.00001
|
NM_001211.6(BUB1B):c.2957+17G>A
|
rs752575105
|
0.00001
|
NM_001211.6(BUB1B):c.3105A>G (p.Leu1035=)
|
rs576684184
|
0.00001
|
NM_001211.6(BUB1B):c.330A>G (p.Gln110=)
|
rs758347429
|
0.00001
|
NM_001211.6(BUB1B):c.36-8C>T
|
rs780399190
|
0.00001
|
NM_001211.6(BUB1B):c.567A>G (p.Leu189=)
|
rs779639976
|
0.00001
|
NM_001211.6(BUB1B):c.582-14T>A
|
rs756555949
|
0.00001
|
NM_001211.6(BUB1B):c.60T>C (p.Asp20=)
|
rs770968419
|
0.00001
|
NM_001211.6(BUB1B):c.636A>G (p.Glu212=)
|
rs769213287
|
0.00001
|
NM_001211.6(BUB1B):c.669A>G (p.Gln223=)
|
rs534752806
|
0.00001
|
NM_001211.6(BUB1B):c.732T>A (p.Arg244=)
|
rs780852497
|
0.00001
|
NM_001211.6(BUB1B):c.751+12A>C
|
rs771058347
|
0.00001
|
NM_001211.6(BUB1B):c.967-4C>G
|
rs1199649373
|
0.00001
|
NM_001378120.1(MBD5):c.1104A>C (p.Pro368=)
|
rs756273559
|
0.00001
|
NM_001378120.1(MBD5):c.1128T>C (p.Ile376=)
|
rs1680695737
|
0.00001
|
NM_001378120.1(MBD5):c.113+14A>G
|
rs759575165
|
0.00001
|
NM_001378120.1(MBD5):c.114-19T>G
|
rs745877259
|
0.00001
|
NM_001378120.1(MBD5):c.1147T>C (p.Ser383Pro)
|
rs1553518530
|
0.00001
|
NM_001378120.1(MBD5):c.1194T>G (p.Pro398=)
|
rs1559086405
|
0.00001
|
NM_001378120.1(MBD5):c.1232C>T (p.Thr411Ile)
|
rs535000990
|
0.00001
|
NM_001378120.1(MBD5):c.1245T>C (p.Gly415=)
|
rs1483172185
|
0.00001
|
NM_001378120.1(MBD5):c.1266T>C (p.His422=)
|
rs371026811
|
0.00001
|
NM_001378120.1(MBD5):c.1269A>T (p.Val423=)
|
rs746576866
|
0.00001
|
NM_001378120.1(MBD5):c.1326C>T (p.Pro442=)
|
rs190279556
|
0.00001
|
NM_001378120.1(MBD5):c.1468C>G (p.Pro490Ala)
|
rs1165270808
|
0.00001
|
NM_001378120.1(MBD5):c.1509A>G (p.Ser503=)
|
rs1465502500
|
0.00001
|
NM_001378120.1(MBD5):c.1524T>A (p.Pro508=)
|
rs773043343
|
0.00001
|
NM_001378120.1(MBD5):c.1537G>A (p.Asp513Asn)
|
rs1465733702
|
0.00001
|
NM_001378120.1(MBD5):c.1602T>C (p.Asn534=)
|
rs768359954
|
0.00001
|
NM_001378120.1(MBD5):c.1663C>A (p.Pro555Thr)
|
rs1422887607
|
0.00001
|
NM_001378120.1(MBD5):c.171T>C (p.Asp57=)
|
rs1707126434
|
0.00001
|
NM_001378120.1(MBD5):c.1793A>G (p.Asn598Ser)
|
rs774519380
|
0.00001
|
NM_001378120.1(MBD5):c.1884C>G (p.Ala628=)
|
rs906942779
|
0.00001
|
NM_001378120.1(MBD5):c.195A>G (p.Glu65=)
|
rs1480609393
|
0.00001
|
NM_001378120.1(MBD5):c.1969C>A (p.Arg657=)
|
rs112334672
|
0.00001
|
NM_001378120.1(MBD5):c.19T>A (p.Cys7Ser)
|
rs766104877
|
0.00001
|
NM_001378120.1(MBD5):c.2004T>C (p.Ser668=)
|
rs1451790598
|
0.00001
|
NM_001378120.1(MBD5):c.2011A>G (p.Arg671Gly)
|
rs1376331579
|
0.00001
|
NM_001378120.1(MBD5):c.2097T>C (p.Ser699=)
|
rs1171949031
|
0.00001
|
NM_001378120.1(MBD5):c.211C>T (p.Pro71Ser)
|
rs770840755
|
0.00001
|
NM_001378120.1(MBD5):c.216+15A>G
|
rs759004187
|
0.00001
|
NM_001378120.1(MBD5):c.2198C>T (p.Ser733Phe)
|
rs1438163020
|
0.00001
|
NM_001378120.1(MBD5):c.2277G>A (p.Val759=)
|
rs750839601
|
0.00001
|
NM_001378120.1(MBD5):c.2295C>T (p.Asn765=)
|
rs752044751
|
0.00001
|
NM_001378120.1(MBD5):c.2304T>C (p.Phe768=)
|
rs115385046
|
0.00001
|
NM_001378120.1(MBD5):c.24C>T (p.Asp8=)
|
rs751181406
|
0.00001
|
NM_001378120.1(MBD5):c.2519-7A>G
|
rs200412749
|
0.00001
|
NM_001378120.1(MBD5):c.2520C>T (p.Gly840=)
|
rs201649831
|
0.00001
|
NM_001378120.1(MBD5):c.2550A>G (p.Ile850Met)
|
rs756787235
|
0.00001
|
NM_001378120.1(MBD5):c.2553G>A (p.Ala851=)
|
rs559879867
|
0.00001
|
NM_001378120.1(MBD5):c.2604C>T (p.Gly868=)
|
rs762047043
|
0.00001
|
NM_001378120.1(MBD5):c.2647C>T (p.Leu883=)
|
rs1378904136
|
0.00001
|
NM_001378120.1(MBD5):c.264A>G (p.Glu88=)
|
rs1385855105
|
0.00001
|
NM_001378120.1(MBD5):c.2688C>T (p.His896=)
|
rs1681222021
|
0.00001
|
NM_001378120.1(MBD5):c.2689G>T (p.Ala897Ser)
|
rs778516851
|
0.00001
|
NM_001378120.1(MBD5):c.3545-10C>G
|
rs1574479997
|
0.00001
|
NM_001378120.1(MBD5):c.3597A>G (p.Leu1199=)
|
rs968871300
|
0.00001
|
NM_001378120.1(MBD5):c.3651A>G (p.Gln1217=)
|
rs777597807
|
0.00001
|
NM_001378120.1(MBD5):c.3753+18G>A
|
rs768223778
|
0.00001
|
NM_001378120.1(MBD5):c.3754-6T>C
|
rs149825755
|
0.00001
|
NM_001378120.1(MBD5):c.3762G>A (p.Met1254Ile)
|
rs373991655
|
0.00001
|
NM_001378120.1(MBD5):c.384C>T (p.Pro128=)
|
rs753595652
|
0.00001
|
NM_001378120.1(MBD5):c.3874T>C (p.Leu1292=)
|
rs959320564
|
0.00001
|
NM_001378120.1(MBD5):c.3882G>A (p.Pro1294=)
|
rs752275705
|
0.00001
|
NM_001378120.1(MBD5):c.3891C>T (p.Asp1297=)
|
rs1359066274
|
0.00001
|
NM_001378120.1(MBD5):c.3897T>C (p.Ser1299=)
|
rs1377963134
|
0.00001
|
NM_001378120.1(MBD5):c.3918T>C (p.Asp1306=)
|
rs1004247100
|
0.00001
|
NM_001378120.1(MBD5):c.3927T>A (p.Val1309=)
|
rs1574484414
|
0.00001
|
NM_001378120.1(MBD5):c.3930G>T (p.Val1310=)
|
rs776127313
|
0.00001
|
NM_001378120.1(MBD5):c.3965A>G (p.Tyr1322Cys)
|
rs1234231456
|
0.00001
|
NM_001378120.1(MBD5):c.397+14T>G
|
rs376866744
|
0.00001
|
NM_001378120.1(MBD5):c.3979G>A (p.Asp1327Asn)
|
rs752647756
|
0.00001
|
NM_001378120.1(MBD5):c.4029T>C (p.Ser1343=)
|
rs1316838361
|
0.00001
|
NM_001378120.1(MBD5):c.4106T>C (p.Leu1369Pro)
|
rs1406103855
|
0.00001
|
NM_001378120.1(MBD5):c.4131T>C (p.Ile1377=)
|
rs1489981026
|
0.00001
|
NM_001378120.1(MBD5):c.4134T>C (p.His1378=)
|
rs1051689897
|
0.00001
|
NM_001378120.1(MBD5):c.4193G>A (p.Arg1398Gln)
|
rs727503999
|
0.00001
|
NM_001378120.1(MBD5):c.4218G>A (p.Gly1406=)
|
rs1014000010
|
0.00001
|
NM_001378120.1(MBD5):c.4231G>A (p.Glu1411Lys)
|
rs571209967
|
0.00001
|
NM_001378120.1(MBD5):c.4318C>A (p.Arg1440=)
|
rs978179634
|
0.00001
|
NM_001378120.1(MBD5):c.4335C>T (p.Tyr1445=)
|
rs368825815
|
0.00001
|
NM_001378120.1(MBD5):c.4396A>G (p.Asn1466Asp)
|
rs778221567
|
0.00001
|
NM_001378120.1(MBD5):c.4466G>A (p.Gly1489Glu)
|
rs773267074
|
0.00001
|
NM_001378120.1(MBD5):c.4467G>T (p.Gly1489=)
|
rs376625886
|
0.00001
|
NM_001378120.1(MBD5):c.4592G>T (p.Ser1531Ile)
|
rs750493021
|
0.00001
|
NM_001378120.1(MBD5):c.4626G>A (p.Lys1542=)
|
rs1467670256
|
0.00001
|
NM_001378120.1(MBD5):c.46C>A (p.Leu16Ile)
|
rs749436847
|
0.00001
|
NM_001378120.1(MBD5):c.4713A>G (p.Gly1571=)
|
rs1470745744
|
0.00001
|
NM_001378120.1(MBD5):c.4737T>C (p.Asn1579=)
|
rs147744781
|
0.00001
|
NM_001378120.1(MBD5):c.4827A>C (p.Ile1609=)
|
rs768275565
|
0.00001
|
NM_001378120.1(MBD5):c.4923C>T (p.Asp1641=)
|
rs747736779
|
0.00001
|
NM_001378120.1(MBD5):c.4929C>T (p.His1643=)
|
rs773406626
|
0.00001
|
NM_001378120.1(MBD5):c.4951G>A (p.Glu1651Lys)
|
rs577955398
|
0.00001
|
NM_001378120.1(MBD5):c.4971C>T (p.Pro1657=)
|
rs761003936
|
0.00001
|
NM_001378120.1(MBD5):c.5014C>T (p.Arg1672Cys)
|
rs767034398
|
0.00001
|
NM_001378120.1(MBD5):c.5015G>A (p.Arg1672His)
|
rs150519311
|
0.00001
|
NM_001378120.1(MBD5):c.502T>C (p.Phe168Leu)
|
rs1225184691
|
0.00001
|
NM_001378120.1(MBD5):c.5113-10T>G
|
rs775307238
|
0.00001
|
NM_001378120.1(MBD5):c.5163G>A (p.Lys1721=)
|
rs1057522299
|
0.00001
|
NM_001378120.1(MBD5):c.520T>A (p.Ser174Thr)
|
rs773716719
|
0.00001
|
NM_001378120.1(MBD5):c.549A>G (p.Val183=)
|
rs1327901967
|
0.00001
|
NM_001378120.1(MBD5):c.573A>G (p.Gln191=)
|
rs188689135
|
0.00001
|
NM_001378120.1(MBD5):c.580C>A (p.Leu194Ile)
|
rs767622325
|
0.00001
|
NM_001378120.1(MBD5):c.588T>C (p.Pro196=)
|
rs373675091
|
0.00001
|
NM_001378120.1(MBD5):c.607T>C (p.Leu203=)
|
rs766270027
|
0.00001
|
NM_001378120.1(MBD5):c.60A>G (p.Gln20=)
|
rs1057522537
|
0.00001
|
NM_001378120.1(MBD5):c.682G>A (p.Gly228Ser)
|
rs1321017970
|
0.00001
|
NM_001378120.1(MBD5):c.693A>T (p.Ile231=)
|
rs1016661590
|
0.00001
|
NM_001378120.1(MBD5):c.798T>A (p.Ile266=)
|
rs1208664164
|
0.00001
|
NM_001378120.1(MBD5):c.974G>A (p.Arg325Gln)
|
rs374866920
|
0.00001
|
NM_001379200.1(TBX1):c.1008C>G (p.Ser336=)
|
rs1489288021
|
0.00001
|
NM_001379200.1(TBX1):c.1026C>A (p.Gly342=)
|
rs1360989561
|
0.00001
|
NM_001379200.1(TBX1):c.1037-10C>T
|
rs1187093140
|
0.00001
|
NM_001379200.1(TBX1):c.1037-18C>T
|
rs1464749962
|
0.00001
|
NM_001379200.1(TBX1):c.1188C>T (p.Gly396=)
|
rs1046003511
|
0.00001
|
NM_001379200.1(TBX1):c.1221C>T (p.Pro407=)
|
rs1305509653
|
0.00001
|
NM_001379200.1(TBX1):c.1240C>T (p.Pro414Ser)
|
rs757648761
|
0.00001
|
NM_001379200.1(TBX1):c.1245C>T (p.Gly415=)
|
rs780344405
|
0.00001
|
NM_001379200.1(TBX1):c.1248A>G (p.Ala416=)
|
rs755047093
|
0.00001
|
NM_001379200.1(TBX1):c.1251G>A (p.Ser417=)
|
rs770781746
|
0.00001
|
NM_001379200.1(TBX1):c.1323G>A (p.Arg441=)
|
rs1228904807
|
0.00001
|
NM_001379200.1(TBX1):c.1329G>A (p.Ala443=)
|
rs772860144
|
0.00001
|
NM_001379200.1(TBX1):c.1371G>A (p.Pro457=)
|
rs768572721
|
0.00001
|
NM_001379200.1(TBX1):c.1377G>C (p.Ala459=)
|
rs771540171
|
0.00001
|
NM_001379200.1(TBX1):c.1392C>T (p.His464=)
|
rs777103863
|
0.00001
|
NM_001379200.1(TBX1):c.1425C>T (p.Ala475=)
|
rs754705790
|
0.00001
|
NM_001379200.1(TBX1):c.1437C>T (p.Ala479=)
|
rs1415301935
|
0.00001
|
NM_001379200.1(TBX1):c.1446C>G (p.Ala482=)
|
rs770702512
|
0.00001
|
NM_001379200.1(TBX1):c.1446C>T (p.Ala482=)
|
rs770702512
|
0.00001
|
NM_001379200.1(TBX1):c.279C>T (p.Ala93=)
|
rs1191392752
|
0.00001
|
NM_001379200.1(TBX1):c.318C>G (p.Ala106=)
|
rs767905417
|
0.00001
|
NM_001379200.1(TBX1):c.437+10C>T
|
rs765377233
|
0.00001
|
NM_001379200.1(TBX1):c.438-7C>A
|
rs199903273
|
0.00001
|
NM_001379200.1(TBX1):c.525C>T (p.Asp175=)
|
rs538317719
|
0.00001
|
NM_001379200.1(TBX1):c.549C>T (p.Phe183=)
|
rs1468073803
|
0.00001
|
NM_001379200.1(TBX1):c.588T>C (p.Pro196=)
|
rs1936758322
|
0.00001
|
NM_001379200.1(TBX1):c.636C>T (p.Gly212=)
|
rs779173153
|
0.00001
|
NM_001379200.1(TBX1):c.663C>T (p.Ser221=)
|
rs1438172581
|
0.00001
|
NM_001379200.1(TBX1):c.699C>T (p.Asp233=)
|
rs367657296
|
0.00001
|
NM_001379200.1(TBX1):c.69G>C (p.Thr23=)
|
rs1482857023
|
0.00001
|
NM_001379200.1(TBX1):c.768C>T (p.Asp256=)
|
rs1266161483
|
0.00001
|
NM_001379200.1(TBX1):c.780T>C (p.Asp260=)
|
rs1936784892
|
0.00001
|
NM_001379200.1(TBX1):c.822C>T (p.Phe274=)
|
rs763559631
|
0.00001
|
NM_001379200.1(TBX1):c.831A>T (p.Thr277=)
|
rs1182771166
|
0.00001
|
NM_001379200.1(TBX1):c.868-11C>T
|
rs1936811503
|
0.00001
|
NM_001379200.1(TBX1):c.868-19C>T
|
rs1201011175
|
0.00001
|
NM_001379200.1(TBX1):c.935+13C>T
|
rs779209396
|
0.00001
|
NM_001379200.1(TBX1):c.936-11C>A
|
rs917326981
|
0.00001
|
NM_002397.5(MEF2C):c.1005G>C (p.Gly335=)
|
rs1053127005
|
0.00001
|
NM_002397.5(MEF2C):c.1014C>T (p.Thr338=)
|
rs1404943567
|
0.00001
|
NM_002397.5(MEF2C):c.1041A>C (p.Val347=)
|
rs1426509656
|
0.00001
|
NM_002397.5(MEF2C):c.1218G>A (p.Ser406=)
|
rs759655835
|
0.00001
|
NM_002397.5(MEF2C):c.1290G>C (p.Ser430=)
|
rs745534524
|
0.00001
|
NM_002397.5(MEF2C):c.1296C>T (p.Asp432=)
|
rs756839313
|
0.00001
|
NM_002397.5(MEF2C):c.1416A>G (p.Ala472=)
|
rs1353760829
|
0.00001
|
NM_002397.5(MEF2C):c.210G>A (p.Thr70=)
|
rs1250050314
|
0.00001
|
NM_002397.5(MEF2C):c.219C>T (p.Asn73=)
|
rs768621677
|
0.00001
|
NM_002397.5(MEF2C):c.237G>A (p.Arg79=)
|
rs1799619981
|
0.00001
|
NM_002397.5(MEF2C):c.258+14C>T
|
rs779827174
|
0.00001
|
NM_002397.5(MEF2C):c.261G>A (p.Thr87=)
|
rs777529202
|
0.00001
|
NM_002397.5(MEF2C):c.308C>T (p.Ala103Val)
|
rs755436703
|
0.00001
|
NM_002397.5(MEF2C):c.423C>T (p.Phe141=)
|
rs774945849
|
0.00001
|
NM_002397.5(MEF2C):c.447G>C (p.Val149=)
|
rs1554112223
|
0.00001
|
NM_002397.5(MEF2C):c.450C>T (p.Ser150=)
|
rs1380809389
|
0.00001
|
NM_002397.5(MEF2C):c.465G>A (p.Leu155=)
|
rs1256206599
|
0.00001
|
NM_002397.5(MEF2C):c.531G>A (p.Leu177=)
|
rs371858773
|
0.00001
|
NM_002397.5(MEF2C):c.54+16T>A
|
rs953851573
|
0.00001
|
NM_002397.5(MEF2C):c.55-9T>G
|
rs1328901581
|
0.00001
|
NM_002397.5(MEF2C):c.585C>T (p.Asn195=)
|
rs398123686
|
0.00001
|
NM_002397.5(MEF2C):c.589+19G>A
|
rs1460049267
|
0.00001
|
NM_002397.5(MEF2C):c.645G>T (p.Gly215=)
|
rs1406989584
|
0.00001
|
NM_002397.5(MEF2C):c.798G>A (p.Thr266=)
|
rs761222463
|
0.00001
|
NM_002397.5(MEF2C):c.861G>A (p.Ser287=)
|
rs185655344
|
0.00001
|
NM_002397.5(MEF2C):c.887T>C (p.Val296Ala)
|
rs765881880
|
0.00001
|
NM_002397.5(MEF2C):c.936A>G (p.Pro312=)
|
rs763339882
|
0.00001
|
NM_014679.5(CEP57):c.1078T>C (p.Leu360=)
|
rs769977771
|
0.00001
|
NM_014679.5(CEP57):c.111A>G (p.Val37=)
|
rs1400701790
|
0.00001
|
NM_014679.5(CEP57):c.1134C>T (p.His378=)
|
rs1326479813
|
0.00001
|
NM_014679.5(CEP57):c.1164G>A (p.Ser388=)
|
rs1463857205
|
0.00001
|
NM_014679.5(CEP57):c.1233A>G (p.Lys411=)
|
rs753801234
|
0.00001
|
NM_014679.5(CEP57):c.123G>A (p.Ser41=)
|
rs200083050
|
0.00001
|
NM_014679.5(CEP57):c.1272+12T>G
|
rs768991658
|
0.00001
|
NM_014679.5(CEP57):c.1374G>A (p.Gly458=)
|
rs1364380694
|
0.00001
|
NM_014679.5(CEP57):c.1377C>T (p.Thr459=)
|
rs144292940
|
0.00001
|
NM_014679.5(CEP57):c.150A>C (p.Leu50=)
|
rs190360114
|
0.00001
|
NM_014679.5(CEP57):c.174A>G (p.Thr58=)
|
rs772710410
|
0.00001
|
NM_014679.5(CEP57):c.303A>G (p.Thr101=)
|
rs775279360
|
0.00001
|
NM_014679.5(CEP57):c.36T>A (p.Ser12=)
|
rs749098441
|
0.00001
|
NM_014679.5(CEP57):c.383-11A>T
|
rs549865234
|
0.00001
|
NM_014679.5(CEP57):c.427T>C (p.Leu143=)
|
rs899359299
|
0.00001
|
NM_014679.5(CEP57):c.46-9A>T
|
rs780066541
|
0.00001
|
NM_014679.5(CEP57):c.471C>T (p.Ala157=)
|
rs753111395
|
0.00001
|
NM_014679.5(CEP57):c.510C>G (p.Ser170=)
|
rs201373134
|
0.00001
|
NM_014679.5(CEP57):c.51C>T (p.Ser17=)
|
rs781312646
|
0.00001
|
NM_014679.5(CEP57):c.561A>G (p.Glu187=)
|
rs1471190034
|
0.00001
|
NM_014679.5(CEP57):c.565T>C (p.Leu189=)
|
rs759061888
|
0.00001
|
NM_014679.5(CEP57):c.621+7G>T
|
rs1029266260
|
0.00001
|
NM_014679.5(CEP57):c.669A>G (p.Glu223=)
|
rs751672542
|
0.00001
|
NM_014679.5(CEP57):c.732C>A (p.Ile244=)
|
rs537497503
|
0.00001
|
NM_014679.5(CEP57):c.885+19G>A
|
rs750852994
|
0.00001
|
NM_014679.5(CEP57):c.925C>T (p.Leu309Phe)
|
rs548800686
|
0.00001
|
NM_022455.5(NSD1):c.1035G>A (p.Pro345=)
|
rs776701573
|
0.00001
|
NM_022455.5(NSD1):c.1173A>G (p.Gln391=)
|
rs146581653
|
0.00001
|
NM_022455.5(NSD1):c.1230G>A (p.Arg410=)
|
rs1312457601
|
0.00001
|
NM_022455.5(NSD1):c.1252T>C (p.Leu418=)
|
rs201329783
|
0.00001
|
NM_022455.5(NSD1):c.1290G>A (p.Gln430=)
|
rs535674820
|
0.00001
|
NM_022455.5(NSD1):c.1716C>T (p.Ser572=)
|
rs375093905
|
0.00001
|
NM_022455.5(NSD1):c.1842G>A (p.Val614=)
|
rs761181063
|
0.00001
|
NM_022455.5(NSD1):c.2007C>T (p.Phe669=)
|
rs530934556
|
0.00001
|
NM_022455.5(NSD1):c.2103G>A (p.Lys701=)
|
rs727504053
|
0.00001
|
NM_022455.5(NSD1):c.2331A>C (p.Leu777=)
|
rs772447375
|
0.00001
|
NM_022455.5(NSD1):c.2340G>A (p.Ser780=)
|
rs766703389
|
0.00001
|
NM_022455.5(NSD1):c.2475C>T (p.Ala825=)
|
rs781498491
|
0.00001
|
NM_022455.5(NSD1):c.3201A>G (p.Val1067=)
|
rs771361976
|
0.00001
|
NM_022455.5(NSD1):c.331A>G (p.Ile111Val)
|
rs1201715787
|
0.00001
|
NM_022455.5(NSD1):c.3426C>T (p.Asn1142=)
|
rs1182714953
|
0.00001
|
NM_022455.5(NSD1):c.352C>G (p.Pro118Ala)
|
rs587784102
|
0.00001
|
NM_022455.5(NSD1):c.3921+9C>T
|
rs192246663
|
0.00001
|
NM_022455.5(NSD1):c.4074G>A (p.Gln1358=)
|
rs777941389
|
0.00001
|
NM_022455.5(NSD1):c.4081C>G (p.Leu1361Val)
|
rs748973344
|
0.00001
|
NM_022455.5(NSD1):c.4551A>G (p.Glu1517=)
|
rs377275787
|
0.00001
|
NM_022455.5(NSD1):c.4966+15T>C
|
rs587784130
|
0.00001
|
NM_022455.5(NSD1):c.5067C>T (p.Cys1689=)
|
rs1313604020
|
0.00001
|
NM_022455.5(NSD1):c.5610T>C (p.Tyr1870=)
|
rs1581507735
|
0.00001
|
NM_022455.5(NSD1):c.6043T>C (p.Tyr2015His)
|
rs587784175
|
0.00001
|
NM_022455.5(NSD1):c.6387G>A (p.Gln2129=)
|
rs998492947
|
0.00001
|
NM_022455.5(NSD1):c.6408A>G (p.Pro2136=)
|
rs771993179
|
0.00001
|
NM_022455.5(NSD1):c.6480G>A (p.Pro2160=)
|
rs587784203
|
0.00001
|
NM_022455.5(NSD1):c.7152G>C (p.Leu2384=)
|
rs758847471
|
0.00001
|
NM_022455.5(NSD1):c.7753G>A (p.Gly2585Arg)
|
rs140839289
|
0.00001
|
NM_022455.5(NSD1):c.7779C>T (p.Ala2593=)
|
rs398124388
|
0.00001
|
NM_022455.5(NSD1):c.7780G>A (p.Ala2594Thr)
|
rs146010779
|
0.00001
|
NM_022455.5(NSD1):c.7809C>G (p.Leu2603=)
|
rs769301382
|
0.00001
|
NM_024426.6(WT1):c.1008G>A (p.Gly336=)
|
rs1369099437
|
0.00001
|
NM_024426.6(WT1):c.1016+9A>G
|
rs772132710
|
0.00001
|
NM_024426.6(WT1):c.1017-19C>T
|
rs1398407708
|
0.00001
|
NM_024426.6(WT1):c.1029G>A (p.Gly343=)
|
rs752102247
|
0.00001
|
NM_024426.6(WT1):c.1035G>A (p.Glu345=)
|
rs757962229
|
0.00001
|
NM_024426.6(WT1):c.1053G>A (p.Thr351=)
|
rs1260693060
|
0.00001
|
NM_024426.6(WT1):c.1113+20C>T
|
rs1852095690
|
0.00001
|
NM_024426.6(WT1):c.115C>A (p.Arg39=)
|
rs763147828
|
0.00001
|
NM_024426.6(WT1):c.120C>T (p.Asp40=)
|
rs1431129227
|
0.00001
|
NM_024426.6(WT1):c.1278C>T (p.Tyr426=)
|
rs759955361
|
0.00001
|
NM_024426.6(WT1):c.1281G>A (p.Gln427=)
|
rs774650640
|
0.00001
|
NM_024426.6(WT1):c.1355-7C>T
|
rs767729335
|
0.00001
|
NM_024426.6(WT1):c.1371G>A (p.Gln457=)
|
rs546743811
|
0.00001
|
NM_024426.6(WT1):c.1410C>T (p.His470=)
|
rs1450267173
|
0.00001
|
NM_024426.6(WT1):c.1434T>C (p.His478=)
|
rs761414130
|
0.00001
|
NM_024426.6(WT1):c.1447+20C>T
|
rs776384327
|
0.00001
|
NM_024426.6(WT1):c.1448-7T>C
|
rs1392191365
|
0.00001
|
NM_024426.6(WT1):c.1458C>A (p.Pro486=)
|
rs1220372055
|
0.00001
|
NM_024426.6(WT1):c.1554C>T (p.Leu518=)
|
rs267602848
|
0.00001
|
NM_024426.6(WT1):c.1568G>A (p.Ter523=)
|
rs148856160
|
0.00001
|
NM_024426.6(WT1):c.186G>A (p.Arg62=)
|
rs1294714508
|
0.00001
|
NM_024426.6(WT1):c.195G>A (p.Gly65=)
|
rs1439699290
|
0.00001
|
NM_024426.6(WT1):c.246C>T (p.Asn82=)
|
rs1205117425
|
0.00001
|
NM_024426.6(WT1):c.255G>A (p.Leu85=)
|
rs1239647129
|
0.00001
|
NM_024426.6(WT1):c.27G>A (p.Pro9=)
|
rs556835183
|
0.00001
|
NM_024426.6(WT1):c.300T>A (p.Pro100=)
|
rs1255257323
|
0.00001
|
NM_024426.6(WT1):c.333G>T (p.Leu111=)
|
rs1853459139
|
0.00001
|
NM_024426.6(WT1):c.33C>T (p.Ser11=)
|
rs1352278629
|
0.00001
|
NM_024426.6(WT1):c.366G>A (p.Gly122=)
|
rs1362739411
|
0.00001
|
NM_024426.6(WT1):c.369G>C (p.Ser123=)
|
rs1485992444
|
0.00001
|
NM_024426.6(WT1):c.36G>T (p.Thr12=)
|
rs1313371480
|
0.00001
|
NM_024426.6(WT1):c.429C>G (p.Ser143=)
|
rs531076591
|
0.00001
|
NM_024426.6(WT1):c.444G>A (p.Glu148=)
|
rs761166030
|
0.00001
|
NM_024426.6(WT1):c.459C>T (p.Gly153=)
|
rs1309250331
|
0.00001
|
NM_024426.6(WT1):c.468G>T (p.Pro156=)
|
rs961309280
|
0.00001
|
NM_024426.6(WT1):c.480G>A (p.Gln160=)
|
rs758900425
|
0.00001
|
NM_024426.6(WT1):c.531C>T (p.Ala177=)
|
rs1354094843
|
0.00001
|
NM_024426.6(WT1):c.549G>A (p.Gly183=)
|
rs1199167878
|
0.00001
|
NM_024426.6(WT1):c.54G>A (p.Ala18=)
|
rs1409626312
|
0.00001
|
NM_024426.6(WT1):c.585C>T (p.Ser195=)
|
rs1332888095
|
0.00001
|
NM_024426.6(WT1):c.588C>A (p.Gly196=)
|
rs1853436844
|
0.00001
|
NM_024426.6(WT1):c.619C>T (p.Leu207=)
|
rs1060504180
|
0.00001
|
NM_024426.6(WT1):c.661+8G>A
|
rs1313565005
|
0.00001
|
NM_024426.6(WT1):c.662-17C>T
|
rs776846827
|
0.00001
|
NM_024426.6(WT1):c.662-19C>T
|
rs761813691
|
0.00001
|
NM_024426.6(WT1):c.662-5C>T
|
rs780259089
|
0.00001
|
NM_024426.6(WT1):c.672G>C (p.Thr224=)
|
rs756695525
|
0.00001
|
NM_024426.6(WT1):c.741C>T (p.His247=)
|
rs1050903370
|
0.00001
|
NM_024426.6(WT1):c.75C>T (p.Ser25=)
|
rs1417997475
|
0.00001
|
NM_024426.6(WT1):c.777C>T (p.Gly259=)
|
rs1395854761
|
0.00001
|
NM_024426.6(WT1):c.780G>T (p.Ser260=)
|
rs1403311573
|
0.00001
|
NM_024426.6(WT1):c.784+17A>G
|
rs1458877359
|
0.00001
|
NM_024426.6(WT1):c.810C>A (p.Pro270=)
|
rs1357760274
|
0.00001
|
NM_024426.6(WT1):c.819T>C (p.Tyr273=)
|
rs766642594
|
0.00001
|
NM_024426.6(WT1):c.81T>C (p.Pro27=)
|
rs755007049
|
0.00001
|
NM_024426.6(WT1):c.846C>T (p.Cys282=)
|
rs1281989931
|
0.00001
|
NM_024426.6(WT1):c.887+11G>T
|
rs1286407878
|
0.00001
|
NM_024426.6(WT1):c.887+19C>G
|
rs755113185
|
0.00001
|
NM_024426.6(WT1):c.887+7A>G
|
rs1301545818
|
0.00001
|
NM_024426.6(WT1):c.945C>T (p.Asn315=)
|
rs775085343
|
0.00001
|
NM_024426.6(WT1):c.965+11C>A
|
rs905888905
|
0.00001
|
NM_024426.6(WT1):c.966-16T>A
|
rs1224574539
|
0.00001
|
NM_024426.6(WT1):c.966-17C>T
|
rs1247254852
|
0.00001
|
NM_024426.6(WT1):c.966-19A>T
|
rs1488183155
|
0.00001
|
NC_000002.11:g.(?_149216328)_(149270510_?)dup
|
|
|
NC_000002.11:g.(?_200136934)_(200320760_?)dup
|
|
|
NC_000015.9:g.(?_91305197)_(91306180_?)del
|
|
|
NM_000057.4(BLM):c.1008C>T (p.Ser336=)
|
rs1490955099
|
|
NM_000057.4(BLM):c.1011A>T (p.Thr337=)
|
rs773511833
|
|
NM_000057.4(BLM):c.1014A>C (p.Ser338=)
|
rs1251803802
|
|
NM_000057.4(BLM):c.1023T>C (p.Leu341=)
|
|
|
NM_000057.4(BLM):c.1023T>G (p.Leu341=)
|
rs28385006
|
|
NM_000057.4(BLM):c.1041A>G (p.Lys347=)
|
|
|
NM_000057.4(BLM):c.1071C>T (p.Thr357=)
|
rs1596223942
|
|
NM_000057.4(BLM):c.1074C>T (p.Ser358=)
|
rs372459059
|
|
NM_000057.4(BLM):c.1077A>G (p.Thr359=)
|
rs1361847926
|
|
NM_000057.4(BLM):c.1083T>C (p.Cys361=)
|
|
|
NM_000057.4(BLM):c.1087+11T>C
|
rs2151152365
|
|
NM_000057.4(BLM):c.1087+12A>G
|
|
|
NM_000057.4(BLM):c.1087+15T>G
|
|
|
NM_000057.4(BLM):c.1087+19A>G
|
|
|
NM_000057.4(BLM):c.1087+20C>T
|
rs1186216476
|
|
NM_000057.4(BLM):c.1087+7G>A
|
rs2151152360
|
|
NM_000057.4(BLM):c.1087+8C>A
|
rs1895780097
|
|
NM_000057.4(BLM):c.1087+9A>C
|
|
|
NM_000057.4(BLM):c.1088-13A>T
|
|
|
NM_000057.4(BLM):c.1088-17A>G
|
rs747396397
|
|
NM_000057.4(BLM):c.1088-17_1088-15del
|
rs750254937
|
|
NM_000057.4(BLM):c.1088-18A>G
|
rs2151157054
|
|
NM_000057.4(BLM):c.1088-19C>G
|
|
|
NM_000057.4(BLM):c.1088-9A>T
|
|
|
NM_000057.4(BLM):c.1089T>C (p.Ala363=)
|
rs2151157107
|
|
NM_000057.4(BLM):c.1092A>G (p.Arg364=)
|
rs2151157122
|
|
NM_000057.4(BLM):c.1101T>C (p.Ser367=)
|
|
|
NM_000057.4(BLM):c.1107G>A (p.Gln369=)
|
rs1895931307
|
|
NM_000057.4(BLM):c.1110G>A (p.Gln370=)
|
rs2151157206
|
|
NM_000057.4(BLM):c.1113G>A (p.Gln371=)
|
rs760446922
|
|
NM_000057.4(BLM):c.1125G>A (p.Val375=)
|
rs2151157267
|
|
NM_000057.4(BLM):c.1131G>A (p.Glu377=)
|
rs764842587
|
|
NM_000057.4(BLM):c.1164T>C (p.Asp388=)
|
rs2151157391
|
|
NM_000057.4(BLM):c.1180T>C (p.Leu394=)
|
rs2151157434
|
|
NM_000057.4(BLM):c.1185T>C (p.Asp395=)
|
rs2151157439
|
|
NM_000057.4(BLM):c.1188T>C (p.Cys396=)
|
rs756454608
|
|
NM_000057.4(BLM):c.1209G>A (p.Gln403=)
|
rs1555419741
|
|
NM_000057.4(BLM):c.1212G>A (p.Arg404=)
|
|
|
NM_000057.4(BLM):c.1212G>C (p.Arg404=)
|
|
|
NM_000057.4(BLM):c.1212G>T (p.Arg404=)
|
rs759308711
|
|
NM_000057.4(BLM):c.1218A>C (p.Ile406=)
|
|
|
NM_000057.4(BLM):c.1220+11T>A
|
|
|
NM_000057.4(BLM):c.1220+11T>G
|
|
|
NM_000057.4(BLM):c.1220+14C>A
|
|
|
NM_000057.4(BLM):c.1220+14C>G
|
|
|
NM_000057.4(BLM):c.1220+17C>G
|
|
|
NM_000057.4(BLM):c.1220+18C>T
|
|
|
NM_000057.4(BLM):c.1221-11T>C
|
|
|
NM_000057.4(BLM):c.1221-12_1221-11del
|
rs1895945037
|
|
NM_000057.4(BLM):c.1221-15C>G
|
rs1038629873
|
|
NM_000057.4(BLM):c.1221-16T>C
|
rs2151157723
|
|
NM_000057.4(BLM):c.1221-20G>A
|
rs2151157720
|
|
NM_000057.4(BLM):c.1221-6C>A
|
|
|
NM_000057.4(BLM):c.1221-6C>G
|
rs1555419778
|
|
NM_000057.4(BLM):c.1221-6C>T
|
rs1555419778
|
|
NM_000057.4(BLM):c.1221-8C>G
|
|
|
NM_000057.4(BLM):c.1236G>T (p.Thr412=)
|
rs762617509
|
|
NM_000057.4(BLM):c.1251T>C (p.Asn417=)
|
rs1555419791
|
|
NM_000057.4(BLM):c.1269T>C (p.Leu423=)
|
|
|
NM_000057.4(BLM):c.1278A>C (p.Ser426=)
|
rs1596229500
|
|
NM_000057.4(BLM):c.1278A>G (p.Ser426=)
|
rs1596229500
|
|
NM_000057.4(BLM):c.1279T>C (p.Leu427=)
|
rs2151157855
|
|
NM_000057.4(BLM):c.1281G>A (p.Leu427=)
|
rs2151157860
|
|
NM_000057.4(BLM):c.1290C>T (p.Tyr430=)
|
rs766861351
|
|
NM_000057.4(BLM):c.1296T>C (p.Pro432=)
|
rs1555419811
|
|
NM_000057.4(BLM):c.1296T>G (p.Pro432=)
|
|
|
NM_000057.4(BLM):c.1299T>C (p.Asp433=)
|
|
|
NM_000057.4(BLM):c.1305T>G (p.Leu435=)
|
rs778967807
|
|
NM_000057.4(BLM):c.1314T>C (p.Pro438=)
|
rs1225205444
|
|
NM_000057.4(BLM):c.1326T>C (p.Asp442=)
|
rs2151158008
|
|
NM_000057.4(BLM):c.1329C>A (p.Ser443=)
|
|
|
NM_000057.4(BLM):c.1329C>T (p.Ser443=)
|
|
|
NM_000057.4(BLM):c.1332C>T (p.Cys444=)
|
rs1895952071
|
|
NM_000057.4(BLM):c.1338A>G (p.Thr446=)
|
rs2151158038
|
|
NM_000057.4(BLM):c.1347T>C (p.Ser449=)
|
rs1481709366
|
|
NM_000057.4(BLM):c.1356G>A (p.Glu452=)
|
|
|
NM_000057.4(BLM):c.135C>T (p.Asn45=)
|
rs2151146713
|
|
NM_000057.4(BLM):c.1362T>C (p.Asn454=)
|
rs1156488243
|
|
NM_000057.4(BLM):c.1365T>C (p.Phe455=)
|
|
|
NM_000057.4(BLM):c.1368A>T (p.Ser456=)
|
|
|
NM_000057.4(BLM):c.1371C>T (p.His457=)
|
|
|
NM_000057.4(BLM):c.1374T>G (p.Leu458=)
|
rs753456624
|
|
NM_000057.4(BLM):c.1383T>C (p.Asn461=)
|
rs2151158124
|
|
NM_000057.4(BLM):c.138T>C (p.Asn46=)
|
rs1895600929
|
|
NM_000057.4(BLM):c.1392T>C (p.Ser464=)
|
rs2151158131
|
|
NM_000057.4(BLM):c.1395T>C (p.Pro465=)
|
|
|
NM_000057.4(BLM):c.1398G>A (p.Gly466=)
|
rs1596229756
|
|
NM_000057.4(BLM):c.1404T>C (p.Cys468=)
|
rs1236929438
|
|
NM_000057.4(BLM):c.1416C>A (p.Thr472=)
|
|
|
NM_000057.4(BLM):c.1419C>G (p.Thr473=)
|
rs200051680
|
|
NM_000057.4(BLM):c.141A>C (p.Val47=)
|
|
|
NM_000057.4(BLM):c.1425A>G (p.Gly475=)
|
|
|
NM_000057.4(BLM):c.1437C>T (p.Phe479=)
|
|
|
NM_000057.4(BLM):c.1446C>T (p.Thr482=)
|
rs2151158251
|
|
NM_000057.4(BLM):c.1449G>A (p.Arg483=)
|
rs1596229906
|
|
NM_000057.4(BLM):c.1461T>C (p.Phe487=)
|
|
|
NM_000057.4(BLM):c.1470T>C (p.Pro490=)
|
|
|
NM_000057.4(BLM):c.1473A>G (p.Leu491=)
|
|
|
NM_000057.4(BLM):c.1479T>C (p.Asn493=)
|
|
|
NM_000057.4(BLM):c.147A>C (p.Val49=)
|
|
|
NM_000057.4(BLM):c.1482C>T (p.Thr494=)
|
rs1596229985
|
|
NM_000057.4(BLM):c.1485T>C (p.His495=)
|
rs2151158313
|
|
NM_000057.4(BLM):c.1488A>G (p.Leu496=)
|
|
|
NM_000057.4(BLM):c.1494G>A (p.Lys498=)
|
|
|
NM_000057.4(BLM):c.1497C>A (p.Ser499=)
|
rs540772424
|
|
NM_000057.4(BLM):c.1500T>C (p.Phe500=)
|
|
|
NM_000057.4(BLM):c.1533A>C (p.Leu511=)
|
|
|
NM_000057.4(BLM):c.153T>C (p.Asn51=)
|
|
|
NM_000057.4(BLM):c.1554T>A (p.Ser518=)
|
rs2151158475
|
|
NM_000057.4(BLM):c.1557T>C (p.Tyr519=)
|
|
|
NM_000057.4(BLM):c.1560C>T (p.Phe520=)
|
rs2151158484
|
|
NM_000057.4(BLM):c.1563A>C (p.Pro521=)
|
|
|
NM_000057.4(BLM):c.156G>A (p.Val52=)
|
|
|
NM_000057.4(BLM):c.156G>T (p.Val52=)
|
rs2151146748
|
|
NM_000057.4(BLM):c.1584T>G (p.Thr528=)
|
rs766369993
|
|
NM_000057.4(BLM):c.1590G>A (p.Val530=)
|
|
|
NM_000057.4(BLM):c.1599G>A (p.Gln533=)
|
rs2151158575
|
|
NM_000057.4(BLM):c.1611T>C (p.Thr537=)
|
rs1895967311
|
|
NM_000057.4(BLM):c.1626C>T (p.Asp542=)
|
rs1895968518
|
|
NM_000057.4(BLM):c.1641C>G (p.Thr547=)
|
|
|
NM_000057.4(BLM):c.1641C>T (p.Thr547=)
|
rs2151158651
|
|
NM_000057.4(BLM):c.1644A>G (p.Gln548=)
|
|
|
NM_000057.4(BLM):c.1647T>C (p.Pro549=)
|
|
|
NM_000057.4(BLM):c.1653T>C (p.Tyr551=)
|
|
|
NM_000057.4(BLM):c.1674A>C (p.Ile558=)
|
|
|
NM_000057.4(BLM):c.1683T>C (p.Phe561=)
|
|
|
NM_000057.4(BLM):c.1686T>C (p.Asp562=)
|
|
|
NM_000057.4(BLM):c.1689T>C (p.Asp563=)
|
|
|
NM_000057.4(BLM):c.1707C>T (p.Asp569=)
|
rs1596230402
|
|
NM_000057.4(BLM):c.171A>T (p.Thr57=)
|
|
|
NM_000057.4(BLM):c.1725A>G (p.Ala575=)
|
rs2151158860
|
|
NM_000057.4(BLM):c.1734A>G (p.Lys578=)
|
|
|
NM_000057.4(BLM):c.1737T>G (p.Ser579=)
|
rs2151158878
|
|
NM_000057.4(BLM):c.1749C>G (p.Ala583=)
|
rs369660800
|
|
NM_000057.4(BLM):c.1749C>T (p.Ala583=)
|
rs369660800
|
|
NM_000057.4(BLM):c.1764G>A (p.Lys588=)
|
rs1596230518
|
|
NM_000057.4(BLM):c.1767A>G (p.Glu589=)
|
rs2151158940
|
|
NM_000057.4(BLM):c.1770T>C (p.Gly590=)
|
|
|
NM_000057.4(BLM):c.1773G>A (p.Arg591=)
|
rs1161912678
|
|
NM_000057.4(BLM):c.1788A>G (p.Val596=)
|
rs1555419972
|
|
NM_000057.4(BLM):c.1803C>T (p.Ser601=)
|
|
|
NM_000057.4(BLM):c.1806A>G (p.Ser602=)
|
|
|
NM_000057.4(BLM):c.1809C>G (p.Ala603=)
|
rs1596230587
|
|
NM_000057.4(BLM):c.1812G>A (p.Lys604=)
|
|
|
NM_000057.4(BLM):c.1818C>T (p.Asp606=)
|
rs1343649830
|
|
NM_000057.4(BLM):c.1827A>G (p.Pro609=)
|
rs1035455107
|
|
NM_000057.4(BLM):c.1827A>T (p.Pro609=)
|
|
|
NM_000057.4(BLM):c.1836T>C (p.Ser612=)
|
|
|
NM_000057.4(BLM):c.1839T>C (p.Thr613=)
|
rs2151159114
|
|
NM_000057.4(BLM):c.1845A>G (p.Gln615=)
|
|
|
NM_000057.4(BLM):c.1857C>T (p.Phe619=)
|
rs1218260888
|
|
NM_000057.4(BLM):c.1860A>C (p.Ser620=)
|
rs1286518338
|
|
NM_000057.4(BLM):c.1866A>G (p.Ser622=)
|
rs2151159183
|
|
NM_000057.4(BLM):c.1875T>C (p.Asn625=)
|
rs2151159204
|
|
NM_000057.4(BLM):c.1882+15A>C
|
|
|
NM_000057.4(BLM):c.1882+15A>G
|
|
|
NM_000057.4(BLM):c.1882+17T>A
|
rs2151159231
|
|
NM_000057.4(BLM):c.1882+18T>C
|
|
|
NM_000057.4(BLM):c.1882+19G>A
|
|
|
NM_000057.4(BLM):c.1883-10A>G
|
|
|
NM_000057.4(BLM):c.1883-11T>A
|
rs2151160467
|
|
NM_000057.4(BLM):c.1883-14G>A
|
rs1459105649
|
|
NM_000057.4(BLM):c.1883-14G>T
|
|
|
NM_000057.4(BLM):c.1883-14_1883-11del
|
|
|
NM_000057.4(BLM):c.1883-18C>T
|
rs755428003
|
|
NM_000057.4(BLM):c.1883-6T>C
|
rs1596232042
|
|
NM_000057.4(BLM):c.1883-7T>C
|
rs1384842732
|
|
NM_000057.4(BLM):c.1883-8T>G
|
|
|
NM_000057.4(BLM):c.18A>G (p.Gln6=)
|
rs372771577
|
|
NM_000057.4(BLM):c.1908C>A (p.Ser636=)
|
|
|
NM_000057.4(BLM):c.1908C>T (p.Ser636=)
|
rs1409930066
|
|
NM_000057.4(BLM):c.1917G>A (p.Leu639=)
|
rs771059822
|
|
NM_000057.4(BLM):c.1929T>C (p.Arg643=)
|
|
|
NM_000057.4(BLM):c.192T>C (p.Asp64=)
|
rs2151146805
|
|
NM_000057.4(BLM):c.1953T>C (p.His651=)
|
rs755517718
|
|
NM_000057.4(BLM):c.1956A>C (p.Thr652=)
|
rs1567042229
|
|
NM_000057.4(BLM):c.1956A>G (p.Thr652=)
|
rs1567042229
|
|
NM_000057.4(BLM):c.1959G>A (p.Lys653=)
|
|
|
NM_000057.4(BLM):c.1977T>C (p.Phe659=)
|
rs1596232235
|
|
NM_000057.4(BLM):c.1986A>G (p.Lys662=)
|
|
|
NM_000057.4(BLM):c.198T>C (p.Asn66=)
|
rs1410899563
|
|
NM_000057.4(BLM):c.1992C>G (p.Gly664=)
|
rs886043359
|
|
NM_000057.4(BLM):c.1993C>T (p.Leu665=)
|
rs2151160690
|
|
NM_000057.4(BLM):c.1995G>A (p.Leu665=)
|
|
|
NM_000057.4(BLM):c.1995G>C (p.Leu665=)
|
rs2151160697
|
|
NM_000057.4(BLM):c.2004T>C (p.Phe668=)
|
|
|
NM_000057.4(BLM):c.2016G>A (p.Gln672=)
|
rs986590937
|
|
NM_000057.4(BLM):c.2019A>G (p.Leu673=)
|
rs2151160712
|
|
NM_000057.4(BLM):c.2022G>A (p.Glu674=)
|
rs1596232275
|
|
NM_000057.4(BLM):c.2028C>T (p.Ile676=)
|
rs2151160730
|
|
NM_000057.4(BLM):c.2031T>C (p.Asn677=)
|
|
|
NM_000057.4(BLM):c.2034T>C (p.Ala678=)
|
rs2151160740
|
|
NM_000057.4(BLM):c.2037A>C (p.Ala679=)
|
|
|
NM_000057.4(BLM):c.2043T>C (p.Leu681=)
|
rs2151160770
|
|
NM_000057.4(BLM):c.2046T>C (p.Gly682=)
|
|
|
NM_000057.4(BLM):c.2046T>G (p.Gly682=)
|
rs2151160778
|
|
NM_000057.4(BLM):c.204C>A (p.Thr68=)
|
rs199927688
|
|
NM_000057.4(BLM):c.204C>G (p.Thr68=)
|
rs199927688
|
|
NM_000057.4(BLM):c.2070G>T (p.Pro690=)
|
rs148078150
|
|
NM_000057.4(BLM):c.2074+10T>C
|
|
|
NM_000057.4(BLM):c.2074+13A>G
|
|
|
NM_000057.4(BLM):c.2074+14G>C
|
|
|
NM_000057.4(BLM):c.2074+17G>C
|
rs902634692
|
|
NM_000057.4(BLM):c.2074+18T>C
|
rs2151160869
|
|
NM_000057.4(BLM):c.2074+31_2074+32insATCCCCCTCTGTGAGAAACACCCAAGAATGATCAATAAAAAAAAAAAAAAAAGAAAGAAAATAACATTCGTAACTTTGAGGAAACAGAATAAATAGGAGATTTATTAAATAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGTGAATTGGCAGGAA
|
rs1567042315
|
|
NM_000057.4(BLM):c.2074+7A>G
|
rs1279559326
|
|
NM_000057.4(BLM):c.2074+9T>A
|
rs2151160844
|
|
NM_000057.4(BLM):c.2075-15A>C
|
|
|
NM_000057.4(BLM):c.2075-16del
|
|
|
NM_000057.4(BLM):c.2075-18T>G
|
rs2151162302
|
|
NM_000057.4(BLM):c.2075-6T>G
|
|
|
NM_000057.4(BLM):c.2075-7C>T
|
|
|
NM_000057.4(BLM):c.2075-8T>C
|
|
|
NM_000057.4(BLM):c.2075-9C>G
|
rs1449433488
|
|
NM_000057.4(BLM):c.2076A>G (p.Gly692=)
|
|
|
NM_000057.4(BLM):c.2088T>C (p.Ser696=)
|
rs2151162337
|
|
NM_000057.4(BLM):c.2091G>A (p.Leu697=)
|
rs2151162344
|
|
NM_000057.4(BLM):c.2103C>A (p.Leu701=)
|
rs1596234139
|
|
NM_000057.4(BLM):c.2103C>T (p.Leu701=)
|
rs1596234139
|
|
NM_000057.4(BLM):c.2109C>A (p.Ala703=)
|
|
|
NM_000057.4(BLM):c.210C>T (p.Asp70=)
|
|
|
NM_000057.4(BLM):c.2115T>A (p.Val705=)
|
rs142787700
|
|
NM_000057.4(BLM):c.2121T>C (p.Pro707=)
|
|
|
NM_000057.4(BLM):c.2127C>T (p.Val709=)
|
rs2151162440
|
|
NM_000057.4(BLM):c.2148G>A (p.Leu716=)
|
rs2151162471
|
|
NM_000057.4(BLM):c.2163A>G (p.Val721=)
|
|
|
NM_000057.4(BLM):c.2172C>T (p.Val724=)
|
rs2151162509
|
|
NM_000057.4(BLM):c.2181G>T (p.Leu727=)
|
rs2151162511
|
|
NM_000057.4(BLM):c.2188T>C (p.Leu730=)
|
rs2151162528
|
|
NM_000057.4(BLM):c.2193+15T>C
|
|
|
NM_000057.4(BLM):c.2193+16A>C
|
rs1567043236
|
|
NM_000057.4(BLM):c.2193+16A>G
|
|
|
NM_000057.4(BLM):c.2193+17C>A
|
|
|
NM_000057.4(BLM):c.2193+8A>G
|
rs2151162549
|
|
NM_000057.4(BLM):c.2194-12T>A
|
|
|
NM_000057.4(BLM):c.2194-13C>A
|
|
|
NM_000057.4(BLM):c.2194-16C>A
|
|
|
NM_000057.4(BLM):c.2194-16C>T
|
|
|
NM_000057.4(BLM):c.2194-17A>G
|
rs755003821
|
|
NM_000057.4(BLM):c.2194-7T>C
|
|
|
NM_000057.4(BLM):c.2194-8A>C
|
|
|
NM_000057.4(BLM):c.2194-8A>G
|
rs1896143206
|
|
NM_000057.4(BLM):c.2199A>G (p.Pro733=)
|
|
|
NM_000057.4(BLM):c.2205A>G (p.Thr735=)
|
rs757134420
|
|
NM_000057.4(BLM):c.2205A>T (p.Thr735=)
|
rs757134420
|
|
NM_000057.4(BLM):c.2209C>T (p.Leu737=)
|
rs901867383
|
|
NM_000057.4(BLM):c.2211G>T (p.Leu737=)
|
rs933356579
|
|
NM_000057.4(BLM):c.2214A>G (p.Thr738=)
|
|
|
NM_000057.4(BLM):c.2217T>C (p.Gly739=)
|
|
|
NM_000057.4(BLM):c.2217T>G (p.Gly739=)
|
rs1217701232
|
|
NM_000057.4(BLM):c.2220T>C (p.Asp740=)
|
rs2151163848
|
|
NM_000057.4(BLM):c.2226T>C (p.Thr742=)
|
rs2151163862
|
|
NM_000057.4(BLM):c.2229C>T (p.Asp743=)
|
rs889046632
|
|
NM_000057.4(BLM):c.222T>C (p.Ser74=)
|
rs2151146878
|
|
NM_000057.4(BLM):c.2232A>G (p.Ser744=)
|
|
|
NM_000057.4(BLM):c.2235A>G (p.Glu745=)
|
rs1596235875
|
|
NM_000057.4(BLM):c.2253C>A (p.Leu751=)
|
rs2151163921
|
|
NM_000057.4(BLM):c.2253C>G (p.Leu751=)
|
rs2151163921
|
|
NM_000057.4(BLM):c.2259A>G (p.Leu753=)
|
|
|
NM_000057.4(BLM):c.225A>G (p.Glu75=)
|
rs2151146880
|
|
NM_000057.4(BLM):c.2265A>G (p.Lys755=)
|
rs773864863
|
|
NM_000057.4(BLM):c.2277C>A (p.Ile759=)
|
|
|
NM_000057.4(BLM):c.2280A>C (p.Ile760=)
|
rs1596236007
|
|
NM_000057.4(BLM):c.2287C>T (p.Leu763=)
|
rs896043726
|
|
NM_000057.4(BLM):c.2289A>C (p.Leu763=)
|
rs1567044034
|
|
NM_000057.4(BLM):c.2289A>T (p.Leu763=)
|
|
|
NM_000057.4(BLM):c.2298T>A (p.Thr766=)
|
rs2151164033
|
|
NM_000057.4(BLM):c.2298T>C (p.Thr766=)
|
|
|
NM_000057.4(BLM):c.2301A>C (p.Pro767=)
|
|
|
NM_000057.4(BLM):c.2307+15C>A
|
|
|
NM_000057.4(BLM):c.2307+16A>G
|
|
|
NM_000057.4(BLM):c.2307+7A>G
|
|
|
NM_000057.4(BLM):c.2308-12T>C
|
|
|
NM_000057.4(BLM):c.2308-15G>A
|
rs761194653
|
|
NM_000057.4(BLM):c.2308-20C>G
|
|
|
NM_000057.4(BLM):c.2308-9C>T
|
rs771208627
|
|
NM_000057.4(BLM):c.2316A>G (p.Ala772=)
|
rs752835659
|
|
NM_000057.4(BLM):c.231A>C (p.Leu77=)
|
|
|
NM_000057.4(BLM):c.231A>G (p.Leu77=)
|
rs760696149
|
|
NM_000057.4(BLM):c.2337T>C (p.Thr779=)
|
rs1896223602
|
|
NM_000057.4(BLM):c.2346T>C (p.Asn782=)
|
rs2151165716
|
|
NM_000057.4(BLM):c.234C>G (p.Pro78=)
|
rs970793829
|
|
NM_000057.4(BLM):c.234C>T (p.Pro78=)
|
rs970793829
|
|
NM_000057.4(BLM):c.2352T>C (p.Tyr784=)
|
|
|
NM_000057.4(BLM):c.2358G>A (p.Arg786=)
|
|
|
NM_000057.4(BLM):c.2367G>A (p.Leu789=)
|
rs1060500651
|
|
NM_000057.4(BLM):c.237C>T (p.Asn79=)
|
|
|
NM_000057.4(BLM):c.2385T>C (p.Asp795=)
|
|
|
NM_000057.4(BLM):c.2391A>C (p.Ala797=)
|
|
|
NM_000057.4(BLM):c.2391A>G (p.Ala797=)
|
|
|
NM_000057.4(BLM):c.2394T>C (p.His798=)
|
|
|
NM_000057.4(BLM):c.2400C>T (p.Val800=)
|
|
|
NM_000057.4(BLM):c.2406+10G>C
|
|
|
NM_000057.4(BLM):c.2406+11T>A
|
|
|
NM_000057.4(BLM):c.2406+11T>G
|
rs1896228357
|
|
NM_000057.4(BLM):c.2406+14T>A
|
|
|
NM_000057.4(BLM):c.2406+19A>G
|
rs2151165875
|
|
NM_000057.4(BLM):c.2406+5A>G
|
rs763104913
|
|
NM_000057.4(BLM):c.2406+8C>G
|
rs764181989
|
|
NM_000057.4(BLM):c.2406+8C>T
|
rs764181989
|
|
NM_000057.4(BLM):c.2406+9T>A
|
rs2151165855
|
|
NM_000057.4(BLM):c.2407-14T>A
|
|
|
NM_000057.4(BLM):c.2407-16T>G
|
rs2151166035
|
|
NM_000057.4(BLM):c.2407-17T>C
|
|
|
NM_000057.4(BLM):c.2407-17_2407-16insG
|
|
|
NM_000057.4(BLM):c.2407-18A>T
|
|
|
NM_000057.4(BLM):c.2407-6A>T
|
rs1478497820
|
|
NM_000057.4(BLM):c.2407-7C>G
|
|
|
NM_000057.4(BLM):c.2407-7C>T
|
rs768836369
|
|
NM_000057.4(BLM):c.2407-8C>T
|
|
|
NM_000057.4(BLM):c.240C>T (p.Thr80=)
|
rs1895606265
|
|
NM_000057.4(BLM):c.2415T>C (p.His805=)
|
rs1896235784
|
|
NM_000057.4(BLM):c.2421T>C (p.Phe807=)
|
rs2151166092
|
|
NM_000057.4(BLM):c.2433C>T (p.Tyr811=)
|
rs377542595
|
|
NM_000057.4(BLM):c.2439A>G (p.Arg813=)
|
|
|
NM_000057.4(BLM):c.2454C>A (p.Arg818=)
|
rs746409922
|
|
NM_000057.4(BLM):c.2469T>C (p.Ser823=)
|
rs780438135
|
|
NM_000057.4(BLM):c.2472T>A (p.Val824=)
|
|
|
NM_000057.4(BLM):c.2475G>C (p.Pro825=)
|
rs147587050
|
|
NM_000057.4(BLM):c.2478G>A (p.Val826=)
|
|
|
NM_000057.4(BLM):c.2490G>T (p.Thr830=)
|
|
|
NM_000057.4(BLM):c.2493C>T (p.Ala831=)
|
rs2151166253
|
|
NM_000057.4(BLM):c.2496A>C (p.Thr832=)
|
rs762840557
|
|
NM_000057.4(BLM):c.2499T>C (p.Ala833=)
|
|
|
NM_000057.4(BLM):c.249G>A (p.Gln83=)
|
rs1430623511
|
|
NM_000057.4(BLM):c.2502T>C (p.Asn834=)
|
rs2151166275
|
|
NM_000057.4(BLM):c.2508G>A (p.Arg836=)
|
rs2151166304
|
|
NM_000057.4(BLM):c.2514G>A (p.Gln838=)
|
rs2151166322
|
|
NM_000057.4(BLM):c.2520C>T (p.Asp840=)
|
|
|
NM_000057.4(BLM):c.2523C>T (p.Ile841=)
|
|
|
NM_000057.4(BLM):c.2529T>C (p.Thr843=)
|
rs2151166372
|
|
NM_000057.4(BLM):c.2544C>G (p.Leu848=)
|
|
|
NM_000057.4(BLM):c.2555+10T>C
|
rs2151166449
|
|
NM_000057.4(BLM):c.2555+13A>C
|
|
|
NM_000057.4(BLM):c.2555+13A>G
|
|
|
NM_000057.4(BLM):c.2555+13A>T
|
|
|
NM_000057.4(BLM):c.2555+15G>C
|
rs376896850
|
|
NM_000057.4(BLM):c.2555+16_2555+17delinsAT
|
rs2151166465
|
|
NM_000057.4(BLM):c.2555+17C>G
|
rs747061490
|
|
NM_000057.4(BLM):c.2555+17C>T
|
|
|
NM_000057.4(BLM):c.2555+17del
|
|
|
NM_000057.4(BLM):c.2555+19C>A
|
|
|
NM_000057.4(BLM):c.2555+19C>T
|
|
|
NM_000057.4(BLM):c.2555+20G>C
|
|
|
NM_000057.4(BLM):c.2555+20G>T
|
rs762930185
|
|
NM_000057.4(BLM):c.2555+7_2555+8inv
|
|
|
NM_000057.4(BLM):c.2556-10A>G
|
|
|
NM_000057.4(BLM):c.2556-11G>A
|
|
|
NM_000057.4(BLM):c.2556-11G>C
|
|
|
NM_000057.4(BLM):c.2556-12G>C
|
rs2151177995
|
|
NM_000057.4(BLM):c.2556-18T>C
|
|
|
NM_000057.4(BLM):c.2556-19A>G
|
|
|
NM_000057.4(BLM):c.2556-19A>T
|
|
|
NM_000057.4(BLM):c.2556-7T>C
|
|
|
NM_000057.4(BLM):c.2556-8T>C
|
rs1567052156
|
|
NM_000057.4(BLM):c.2556-8T>G
|
rs1567052156
|
|
NM_000057.4(BLM):c.255G>A (p.Arg85=)
|
|
|
NM_000057.4(BLM):c.2583T>C (p.Asn861=)
|
rs1896651230
|
|
NM_000057.4(BLM):c.2595T>C (p.Tyr865=)
|
rs1060503989
|
|
NM_000057.4(BLM):c.2598A>G (p.Val866=)
|
rs574053990
|
|
NM_000057.4(BLM):c.25C>T (p.Leu9=)
|
rs1596215640
|
|
NM_000057.4(BLM):c.2622G>A (p.Val874=)
|
rs760261440
|
|
NM_000057.4(BLM):c.2637A>G (p.Leu879=)
|
rs1896653550
|
|
NM_000057.4(BLM):c.2640A>G (p.Glu880=)
|
rs1301492880
|
|
NM_000057.4(BLM):c.2646C>T (p.Ile882=)
|
rs760072975
|
|
NM_000057.4(BLM):c.2649A>G (p.Arg883=)
|
|
|
NM_000057.4(BLM):c.264C>T (p.Asp88=)
|
rs757984551
|
|
NM_000057.4(BLM):c.2652G>A (p.Lys884=)
|
rs1596250475
|
|
NM_000057.4(BLM):c.2662+11C>G
|
|
|
NM_000057.4(BLM):c.2662+11C>T
|
|
|
NM_000057.4(BLM):c.2662+14T>C
|
|
|
NM_000057.4(BLM):c.2662+15G>A
|
rs1335538618
|
|
NM_000057.4(BLM):c.2662+18A>G
|
rs2151178213
|
|
NM_000057.4(BLM):c.2662+19T>C
|
|
|
NM_000057.4(BLM):c.2662+20T>A
|
rs2151178215
|
|
NM_000057.4(BLM):c.2663-12G>A
|
rs2151179669
|
|
NM_000057.4(BLM):c.2663-15T>C
|
rs1896705664
|
|
NM_000057.4(BLM):c.2663-4G>A
|
rs2151179676
|
|
NM_000057.4(BLM):c.2663-6T>C
|
rs2151179672
|
|
NM_000057.4(BLM):c.2688C>T (p.Leu896=)
|
rs1488182321
|
|
NM_000057.4(BLM):c.2694G>A (p.Arg898=)
|
rs2151179730
|
|
NM_000057.4(BLM):c.2695C>A (p.Arg899=)
|
|
|
NM_000057.4(BLM):c.2706C>T (p.Asp902=)
|
rs1219646041
|
|
NM_000057.4(BLM):c.2709C>G (p.Thr903=)
|
rs1555422522
|
|
NM_000057.4(BLM):c.2709C>T (p.Thr903=)
|
rs1555422522
|
|
NM_000057.4(BLM):c.2715T>C (p.Ala905=)
|
|
|
NM_000057.4(BLM):c.2722T>C (p.Leu908=)
|
|
|
NM_000057.4(BLM):c.2724A>G (p.Leu908=)
|
rs1052357089
|
|
NM_000057.4(BLM):c.2727G>A (p.Gln909=)
|
rs2151179788
|
|
NM_000057.4(BLM):c.2730A>G (p.Arg910=)
|
|
|
NM_000057.4(BLM):c.2733T>C (p.Asp911=)
|
|
|
NM_000057.4(BLM):c.2739C>A (p.Leu913=)
|
rs759223856
|
|
NM_000057.4(BLM):c.2742T>C (p.Ala914=)
|
|
|
NM_000057.4(BLM):c.2748T>G (p.Leu916=)
|
rs2151179825
|
|
NM_000057.4(BLM):c.2757T>C (p.His919=)
|
rs2151179837
|
|
NM_000057.4(BLM):c.2760T>C (p.Ala920=)
|
rs1321253830
|
|
NM_000057.4(BLM):c.2760T>G (p.Ala920=)
|
rs1321253830
|
|
NM_000057.4(BLM):c.2769T>C (p.Ser923=)
|
rs1596252204
|
|
NM_000057.4(BLM):c.2775T>C (p.Ser925=)
|
rs1596252208
|
|
NM_000057.4(BLM):c.2778C>G (p.Ala926=)
|
|
|
NM_000057.4(BLM):c.2790G>A (p.Val930=)
|
|
|
NM_000057.4(BLM):c.2793G>A (p.Gln931=)
|
rs1192168118
|
|
NM_000057.4(BLM):c.27A>G (p.Leu9=)
|
rs2151145006
|
|
NM_000057.4(BLM):c.2823+11T>A
|
|
|
NM_000057.4(BLM):c.2823+12A>G
|
|
|
NM_000057.4(BLM):c.2823+15G>C
|
rs750620938
|
|
NM_000057.4(BLM):c.2823+19A>T
|
|
|
NM_000057.4(BLM):c.2823+20A>C
|
|
|
NM_000057.4(BLM):c.2823+21_2823+24del
|
rs2151179993
|
|
NM_000057.4(BLM):c.2823+9T>C
|
|
|
NM_000057.4(BLM):c.2824-10T>C
|
|
|
NM_000057.4(BLM):c.2824-12C>T
|
rs1314614444
|
|
NM_000057.4(BLM):c.2824-14T>C
|
|
|
NM_000057.4(BLM):c.2824-17T>G
|
|
|
NM_000057.4(BLM):c.2824-7A>G
|
rs374616797
|
|
NM_000057.4(BLM):c.2824-7A>T
|
rs374616797
|
|
NM_000057.4(BLM):c.2832T>C (p.Cys944=)
|
|
|
NM_000057.4(BLM):c.2835T>C (p.Ala945=)
|
|
|
NM_000057.4(BLM):c.2838A>T (p.Thr946=)
|
rs200850440
|
|
NM_000057.4(BLM):c.2844A>G (p.Ala948=)
|
|
|
NM_000057.4(BLM):c.2859T>C (p.Ile953=)
|
|
|
NM_000057.4(BLM):c.2862C>T (p.Asp954=)
|
rs907953613
|
|
NM_000057.4(BLM):c.2865A>G (p.Lys955=)
|
rs1896882039
|
|
NM_000057.4(BLM):c.2874G>A (p.Val958=)
|
rs2151184510
|
|
NM_000057.4(BLM):c.2877A>T (p.Arg959=)
|
|
|
NM_000057.4(BLM):c.2889T>C (p.His963=)
|
|
|
NM_000057.4(BLM):c.288A>G (p.Gly96=)
|
rs2151147023
|
|
NM_000057.4(BLM):c.2892A>C (p.Ala964=)
|
rs973389134
|
|
NM_000057.4(BLM):c.2892A>G (p.Ala964=)
|
rs973389134
|
|
NM_000057.4(BLM):c.2895T>A (p.Ser965=)
|
rs2151184545
|
|
NM_000057.4(BLM):c.2898C>T (p.Leu966=)
|
rs201220226
|
|
NM_000057.4(BLM):c.2901T>A (p.Pro967=)
|
|
|
NM_000057.4(BLM):c.2934C>A (p.Gly978=)
|
rs2151184603
|
|
NM_000057.4(BLM):c.2940T>C (p.Ala980=)
|
rs1596257223
|
|
NM_000057.4(BLM):c.2940T>G (p.Ala980=)
|
rs1596257223
|
|
NM_000057.4(BLM):c.2949T>C (p.Asp983=)
|
rs2151184627
|
|
NM_000057.4(BLM):c.294A>G (p.Glu98=)
|
rs2151147036
|
|
NM_000057.4(BLM):c.2952G>A (p.Gly984=)
|
|
|
NM_000057.4(BLM):c.2968C>T (p.Leu990=)
|
|
|
NM_000057.4(BLM):c.2970G>A (p.Leu990=)
|
|
|
NM_000057.4(BLM):c.2973T>C (p.Leu991=)
|
rs2151184673
|
|
NM_000057.4(BLM):c.2982C>G (p.Thr994=)
|
rs2151184697
|
|
NM_000057.4(BLM):c.2994G>A (p.Val998=)
|
rs1596257300
|
|
NM_000057.4(BLM):c.300G>A (p.Gln100=)
|
rs2151147068
|
|
NM_000057.4(BLM):c.3012T>C (p.Leu1004=)
|
rs2151184763
|
|
NM_000057.4(BLM):c.3019+10G>T
|
|
|
NM_000057.4(BLM):c.3019+12T>G
|
|
|
NM_000057.4(BLM):c.3019+13C>T
|
rs942808732
|
|
NM_000057.4(BLM):c.3019+14C>T
|
|
|
NM_000057.4(BLM):c.3019+15A>G
|
|
|
NM_000057.4(BLM):c.3019+19T>C
|
rs1896890749
|
|
NM_000057.4(BLM):c.3019+20A>G
|
|
|
NM_000057.4(BLM):c.3019+23_3019+24del
|
|
|
NM_000057.4(BLM):c.3019+7T>A
|
rs761087545
|
|
NM_000057.4(BLM):c.3019+9G>A
|
rs771124658
|
|
NM_000057.4(BLM):c.3019+9G>C
|
rs771124658
|
|
NM_000057.4(BLM):c.3020-11A>C
|
rs1331229405
|
|
NM_000057.4(BLM):c.3020-16T>G
|
|
|
NM_000057.4(BLM):c.3020-19T>A
|
rs1896970434
|
|
NM_000057.4(BLM):c.3020-19T>C
|
|
|
NM_000057.4(BLM):c.3020-20A>G
|
rs2151187095
|
|
NM_000057.4(BLM):c.3020-4T>A
|
|
|
NM_000057.4(BLM):c.3020-4T>C
|
|
|
NM_000057.4(BLM):c.3020-4T>G
|
|
|
NM_000057.4(BLM):c.3020-7C>G
|
rs1596259789
|
|
NM_000057.4(BLM):c.3020-7C>T
|
rs1596259789
|
|
NM_000057.4(BLM):c.3036C>T (p.Asn1012=)
|
|
|
NM_000057.4(BLM):c.3039T>C (p.His1013=)
|
rs747406569
|
|
NM_000057.4(BLM):c.3045A>G (p.Thr1015=)
|
rs966206627
|
|
NM_000057.4(BLM):c.3048A>G (p.Arg1016=)
|
|
|
NM_000057.4(BLM):c.3057C>T (p.His1019=)
|
rs539573731
|
|
NM_000057.4(BLM):c.3081A>G (p.Val1027=)
|
|
|
NM_000057.4(BLM):c.3087C>T (p.Tyr1029=)
|
|
|
NM_000057.4(BLM):c.3093A>G (p.Glu1031=)
|
rs2151187267
|
|
NM_000057.4(BLM):c.30G>A (p.Gln10=)
|
rs2151145010
|
|
NM_000057.4(BLM):c.3120G>A (p.Gln1040=)
|
rs1567058364
|
|
NM_000057.4(BLM):c.3129C>T (p.Ala1043=)
|
rs1896977206
|
|
NM_000057.4(BLM):c.312A>G (p.Ser104=)
|
rs2151147095
|
|
NM_000057.4(BLM):c.3132C>T (p.Tyr1044=)
|
rs2151187348
|
|
NM_000057.4(BLM):c.3135T>C (p.Phe1045=)
|
rs1596260013
|
|
NM_000057.4(BLM):c.3141A>G (p.Glu1047=)
|
rs1596260028
|
|
NM_000057.4(BLM):c.3147A>G (p.Gly1049=)
|
|
|
NM_000057.4(BLM):c.3153T>C (p.Asn1051=)
|
rs1262516507
|
|
NM_000057.4(BLM):c.315A>G (p.Lys105=)
|
rs2151147097
|
|
NM_000057.4(BLM):c.3171A>G (p.Lys1057=)
|
rs2151187399
|
|
NM_000057.4(BLM):c.3174C>T (p.His1058=)
|
|
|
NM_000057.4(BLM):c.3180T>C (p.Asp1060=)
|
rs749458622
|
|
NM_000057.4(BLM):c.3186T>A (p.Ser1062=)
|
rs774258877
|
|
NM_000057.4(BLM):c.3189T>C (p.Cys1063=)
|
|
|
NM_000057.4(BLM):c.318A>C (p.Ser106=)
|
rs2151147103
|
|
NM_000057.4(BLM):c.3201T>C (p.Cys1067=)
|
|
|
NM_000057.4(BLM):c.3207A>G (p.Thr1069=)
|
|
|
NM_000057.4(BLM):c.3210+10_3210+11del
|
|
|
NM_000057.4(BLM):c.3210+11_3210+13del
|
rs1896980675
|
|
NM_000057.4(BLM):c.3210+14T>G
|
rs2151187475
|
|
NM_000057.4(BLM):c.3210+15T>G
|
|
|
NM_000057.4(BLM):c.3210+16T>G
|
|
|
NM_000057.4(BLM):c.3210+17T>C
|
|
|
NM_000057.4(BLM):c.3210+20A>C
|
rs2151187481
|
|
NM_000057.4(BLM):c.3210+8A>G
|
|
|
NM_000057.4(BLM):c.3211-14_3211-13del
|
|
|
NM_000057.4(BLM):c.3211-4A>G
|
rs2151190224
|
|
NM_000057.4(BLM):c.3211-5C>G
|
|
|
NM_000057.4(BLM):c.3211-7T>A
|
|
|
NM_000057.4(BLM):c.3211-8A>C
|
rs2151190221
|
|
NM_000057.4(BLM):c.3211-8A>G
|
|
|
NM_000057.4(BLM):c.3213T>C (p.Asp1071=)
|
rs2151190236
|
|
NM_000057.4(BLM):c.322T>C (p.Leu108=)
|
rs1596218180
|
|
NM_000057.4(BLM):c.3231G>C (p.Val1077=)
|
|
|
NM_000057.4(BLM):c.3234T>C (p.Thr1078=)
|
rs2151190271
|
|
NM_000057.4(BLM):c.3249T>C (p.Ser1083=)
|
rs763642876
|
|
NM_000057.4(BLM):c.3261T>C (p.Phe1087=)
|
|
|
NM_000057.4(BLM):c.3279A>G (p.Ser1093=)
|
|
|
NM_000057.4(BLM):c.327A>G (p.Pro109=)
|
rs2151147129
|
|
NM_000057.4(BLM):c.3288A>G (p.Gly1096=)
|
rs1897079440
|
|
NM_000057.4(BLM):c.3306T>C (p.His1102=)
|
|
|
NM_000057.4(BLM):c.3309A>C (p.Val1103=)
|
rs772290769
|
|
NM_000057.4(BLM):c.3315T>C (p.Pro1105=)
|
rs2151190437
|
|
NM_000057.4(BLM):c.3330T>A (p.Thr1110=)
|
|
|
NM_000057.4(BLM):c.333C>T (p.Phe111=)
|
rs1895610686
|
|
NM_000057.4(BLM):c.3340C>T (p.Leu1114=)
|
rs1567060305
|
|
NM_000057.4(BLM):c.3345C>G (p.Val1115=)
|
rs773893026
|
|
NM_000057.4(BLM):c.3355T>C (p.Leu1119=)
|
rs201847046
|
|
NM_000057.4(BLM):c.3358+10C>G
|
rs2151190528
|
|
NM_000057.4(BLM):c.3358+13T>C
|
|
|
NM_000057.4(BLM):c.3358+16T>G
|
rs766854886
|
|
NM_000057.4(BLM):c.3358+18A>C
|
|
|
NM_000057.4(BLM):c.3358+7C>T
|
rs2151190522
|
|
NM_000057.4(BLM):c.3358+7_3358+13del
|
rs1555423799
|
|
NM_000057.4(BLM):c.3358+9T>C
|
rs1555423800
|
|
NM_000057.4(BLM):c.3359-10T>G
|
rs2151194125
|
|
NM_000057.4(BLM):c.3359-15G>A
|
rs2151194113
|
|
NM_000057.4(BLM):c.3359-16T>G
|
|
|
NM_000057.4(BLM):c.3359-18C>T
|
rs2151194105
|
|
NM_000057.4(BLM):c.3359-19T>C
|
rs2151194101
|
|
NM_000057.4(BLM):c.3359-4T>A
|
rs2151194132
|
|
NM_000057.4(BLM):c.3359-5A>G
|
rs1278436608
|
|
NM_000057.4(BLM):c.3359-6T>C
|
|
|
NM_000057.4(BLM):c.3359-7T>A
|
|
|
NM_000057.4(BLM):c.3359-7T>C
|
|
|
NM_000057.4(BLM):c.3359-8C>G
|
rs2151194128
|
|
NM_000057.4(BLM):c.3360G>A (p.Gly1120=)
|
rs1567062602
|
|
NM_000057.4(BLM):c.3360G>T (p.Gly1120=)
|
rs1567062602
|
|
NM_000057.4(BLM):c.3372A>G (p.Ala1124=)
|
rs1897212519
|
|
NM_000057.4(BLM):c.3384A>G (p.Ser1128=)
|
rs2151194181
|
|
NM_000057.4(BLM):c.3399A>G (p.Lys1133=)
|
rs2151194213
|
|
NM_000057.4(BLM):c.339G>A (p.Gln113=)
|
|
|
NM_000057.4(BLM):c.33G>A (p.Glu11=)
|
rs1895533244
|
|
NM_000057.4(BLM):c.3411T>C (p.Tyr1137=)
|
|
|
NM_000057.4(BLM):c.3416G>C (p.Arg1139Pro)
|
rs771776126
|
|
NM_000057.4(BLM):c.3426C>G (p.Ala1142=)
|
rs147148171
|
|
NM_000057.4(BLM):c.342T>C (p.Thr114=)
|
rs746257638
|
|
NM_000057.4(BLM):c.3447G>A (p.Leu1149=)
|
rs1195487968
|
|
NM_000057.4(BLM):c.3450A>T (p.Ile1150=)
|
|
|
NM_000057.4(BLM):c.345G>C (p.Pro115=)
|
rs374578971
|
|
NM_000057.4(BLM):c.3477A>G (p.Leu1159=)
|
rs2151194319
|
|
NM_000057.4(BLM):c.3486T>C (p.Asn1162=)
|
|
|
NM_000057.4(BLM):c.348G>A (p.Lys116=)
|
rs749535664
|
|
NM_000057.4(BLM):c.3495C>G (p.Asp1165Glu)
|
rs767536788
|
|
NM_000057.4(BLM):c.3495C>T (p.Asp1165=)
|
|
|
NM_000057.4(BLM):c.3498G>A (p.Gln1166=)
|
|
|
NM_000057.4(BLM):c.3501G>T (p.Ala1167=)
|
rs752559933
|
|
NM_000057.4(BLM):c.3504C>A (p.Ile1168=)
|
rs758199564
|
|
NM_000057.4(BLM):c.3519C>A (p.Leu1173=)
|
|
|
NM_000057.4(BLM):c.3525T>C (p.Asn1175=)
|
|
|
NM_000057.4(BLM):c.3531C>T (p.Ala1177=)
|
rs2227934
|
|
NM_000057.4(BLM):c.3541C>T (p.Leu1181=)
|
|
|
NM_000057.4(BLM):c.3546T>C (p.Asn1182=)
|
rs1596267753
|
|
NM_000057.4(BLM):c.3549C>A (p.Gly1183=)
|
|
|
NM_000057.4(BLM):c.3552T>C (p.Asn1184=)
|
|
|
NM_000057.4(BLM):c.3555A>G (p.Leu1185=)
|
|
|
NM_000057.4(BLM):c.3558+10T>C
|
|
|
NM_000057.4(BLM):c.3558+12_3558+13del
|
rs773935119
|
|
NM_000057.4(BLM):c.3558+18T>A
|
rs2151194478
|
|
NM_000057.4(BLM):c.3558+24_3558+28del
|
rs745676299
|
|
NM_000057.4(BLM):c.3558+8A>G
|
rs1567062884
|
|
NM_000057.4(BLM):c.3558+9T>C
|
|
|
NM_000057.4(BLM):c.3559-11C>G
|
|
|
NM_000057.4(BLM):c.3559-13C>A
|
rs368473682
|
|
NM_000057.4(BLM):c.3559-13C>T
|
|
|
NM_000057.4(BLM):c.3559-14TC[3]
|
|
|
NM_000057.4(BLM):c.3559-15T>C
|
|
|
NM_000057.4(BLM):c.3559-16T>C
|
|
|
NM_000057.4(BLM):c.3559-17G>A
|
|
|
NM_000057.4(BLM):c.3559-18T>C
|
|
|
NM_000057.4(BLM):c.3559-4A>G
|
rs760756587
|
|
NM_000057.4(BLM):c.3559-6A>C
|
rs773492985
|
|
NM_000057.4(BLM):c.3559-6A>G
|
rs773492985
|
|
NM_000057.4(BLM):c.3559-7C>A
|
rs772254909
|
|
NM_000057.4(BLM):c.3559-7C>T
|
rs772254909
|
|
NM_000057.4(BLM):c.3559-9C>T
|
|
|
NM_000057.4(BLM):c.3561A>T (p.Val1187=)
|
rs762924653
|
|
NM_000057.4(BLM):c.3564C>T (p.Asp1188=)
|
|
|
NM_000057.4(BLM):c.357A>G (p.Val119=)
|
|
|
NM_000057.4(BLM):c.357A>T (p.Val119=)
|
rs1279217509
|
|
NM_000057.4(BLM):c.3591T>C (p.Ser1197=)
|
rs1596268143
|
|
NM_000057.4(BLM):c.3603A>G (p.Gln1201=)
|
rs2151194830
|
|
NM_000057.4(BLM):c.3606A>G (p.Lys1202=)
|
|
|
NM_000057.4(BLM):c.3609G>C (p.Ala1203=)
|
rs151114049
|
|
NM_000057.4(BLM):c.3618A>C (p.Ala1206=)
|
rs1384318181
|
|
NM_000057.4(BLM):c.3618A>G (p.Ala1206=)
|
|
|
NM_000057.4(BLM):c.3636A>G (p.Glu1212=)
|
rs1897234564
|
|
NM_000057.4(BLM):c.3639G>A (p.Glu1213=)
|
|
|
NM_000057.4(BLM):c.3651A>G (p.Lys1217=)
|
rs587779887
|
|
NM_000057.4(BLM):c.3654T>C (p.Cys1218=)
|
rs2151194910
|
|
NM_000057.4(BLM):c.3657T>C (p.Leu1219=)
|
|
|
NM_000057.4(BLM):c.3663A>G (p.Glu1221=)
|
|
|
NM_000057.4(BLM):c.3666T>A (p.Leu1222=)
|
rs1301144106
|
|
NM_000057.4(BLM):c.3702T>C (p.Gly1234=)
|
rs2151194969
|
|
NM_000057.4(BLM):c.3717T>C (p.Asn1239=)
|
|
|
NM_000057.4(BLM):c.3726T>C (p.Asn1242=)
|
rs1567063258
|
|
NM_000057.4(BLM):c.3735T>A (p.Thr1245=)
|
|
|
NM_000057.4(BLM):c.3735T>G (p.Thr1245=)
|
|
|
NM_000057.4(BLM):c.3741G>A (p.Lys1247=)
|
rs2151195000
|
|
NM_000057.4(BLM):c.3744G>A (p.Lys1248=)
|
rs1596268347
|
|
NM_000057.4(BLM):c.3747T>A (p.Leu1249=)
|
rs776748831
|
|
NM_000057.4(BLM):c.3751+10C>A
|
rs199685140
|
|
NM_000057.4(BLM):c.3751+10C>G
|
rs199685140
|
|
NM_000057.4(BLM):c.3751+11A>G
|
rs1275107089
|
|
NM_000057.4(BLM):c.3751+11del
|
|
|
NM_000057.4(BLM):c.3751+12T>C
|
|
|
NM_000057.4(BLM):c.3751+13G>T
|
rs2151195051
|
|
NM_000057.4(BLM):c.3751+14T>C
|
rs2151195056
|
|
NM_000057.4(BLM):c.3751+15A>G
|
|
|
NM_000057.4(BLM):c.3751+17C>T
|
|
|
NM_000057.4(BLM):c.3751+18C>G
|
rs2151195059
|
|
NM_000057.4(BLM):c.3751+18C>T
|
|
|
NM_000057.4(BLM):c.3751+21del
|
|
|
NM_000057.4(BLM):c.3751+7dup
|
|
|
NM_000057.4(BLM):c.3751+8C>T
|
rs765243972
|
|
NM_000057.4(BLM):c.3752-10C>T
|
|
|
NM_000057.4(BLM):c.3752-12G>T
|
|
|
NM_000057.4(BLM):c.3752-14A>G
|
|
|
NM_000057.4(BLM):c.3752-14A>T
|
rs1897346689
|
|
NM_000057.4(BLM):c.3752-15T>G
|
|
|
NM_000057.4(BLM):c.3752-18T>C
|
rs1897346458
|
|
NM_000057.4(BLM):c.3752-4A>G
|
rs1489122577
|
|
NM_000057.4(BLM):c.3752-5C>A
|
|
|
NM_000057.4(BLM):c.3752-5C>T
|
rs2151198253
|
|
NM_000057.4(BLM):c.3752-8T>C
|
rs1897346891
|
|
NM_000057.4(BLM):c.3752-9T>C
|
|
|
NM_000057.4(BLM):c.3759A>G (p.Leu1253=)
|
rs1596271761
|
|
NM_000057.4(BLM):c.3768T>C (p.Asp1256=)
|
rs2151198276
|
|
NM_000057.4(BLM):c.3774G>A (p.Glu1258=)
|
rs1596271783
|
|
NM_000057.4(BLM):c.3777T>A (p.Val1259=)
|
rs2151198287
|
|
NM_000057.4(BLM):c.3778T>C (p.Leu1260=)
|
rs2151198289
|
|
NM_000057.4(BLM):c.378A>G (p.Pro126=)
|
|
|
NM_000057.4(BLM):c.3798T>C (p.Val1266=)
|
|
|
NM_000057.4(BLM):c.3801T>G (p.Thr1267=)
|
|
|
NM_000057.4(BLM):c.3810A>G (p.Lys1270=)
|
|
|
NM_000057.4(BLM):c.3831A>G (p.Glu1277=)
|
rs2151198335
|
|
NM_000057.4(BLM):c.3834G>C (p.Val1278=)
|
rs2151198344
|
|
NM_000057.4(BLM):c.3834G>T (p.Val1278=)
|
|
|
NM_000057.4(BLM):c.3843A>G (p.Val1281=)
|
rs764839828
|
|
NM_000057.4(BLM):c.3844T>C (p.Leu1282=)
|
|
|
NM_000057.4(BLM):c.384A>G (p.Val128=)
|
rs2151147254
|
|
NM_000057.4(BLM):c.3855C>T (p.Tyr1285=)
|
rs1057516728
|
|
NM_000057.4(BLM):c.3861A>G (p.Glu1287=)
|
rs977539638
|
|
NM_000057.4(BLM):c.3870G>A (p.Ser1290=)
|
rs1250145765
|
|
NM_000057.4(BLM):c.3870G>T (p.Ser1290=)
|
|
|
NM_000057.4(BLM):c.3874+10C>A
|
|
|
NM_000057.4(BLM):c.3874+10C>T
|
rs746130539
|
|
NM_000057.4(BLM):c.3874+11del
|
|
|
NM_000057.4(BLM):c.3874+13C>G
|
|
|
NM_000057.4(BLM):c.3874+13C>T
|
rs1415763304
|
|
NM_000057.4(BLM):c.3874+15A>G
|
|
|
NM_000057.4(BLM):c.3874+16T>C
|
|
|
NM_000057.4(BLM):c.3874+16TG[2]
|
rs2151198446
|
|
NM_000057.4(BLM):c.3874+17G>T
|
rs773040544
|
|
NM_000057.4(BLM):c.3874+20T>A
|
|
|
NM_000057.4(BLM):c.3874+3T>C
|
rs2151198427
|
|
NM_000057.4(BLM):c.3875-14T>C
|
rs1897405940
|
|
NM_000057.4(BLM):c.3875-19C>A
|
rs746113158
|
|
NM_000057.4(BLM):c.3875-20T>A
|
|
|
NM_000057.4(BLM):c.3875-7T>C
|
rs2151199681
|
|
NM_000057.4(BLM):c.3875-8A>C
|
rs1897406255
|
|
NM_000057.4(BLM):c.3876T>C (p.Ala1292=)
|
rs1596273405
|
|
NM_000057.4(BLM):c.387_389del (p.Lys130del)
|
rs587778105
|
|
NM_000057.4(BLM):c.3882C>T (p.Asp1294=)
|
|
|
NM_000057.4(BLM):c.3885T>C (p.Ser1295=)
|
|
|
NM_000057.4(BLM):c.3888C>A (p.Ser1296=)
|
rs2151199719
|
|
NM_000057.4(BLM):c.3894G>A (p.Gly1298=)
|
|
|
NM_000057.4(BLM):c.3894G>C (p.Gly1298=)
|
rs1596273453
|
|
NM_000057.4(BLM):c.3897A>C (p.Ile1299=)
|
|
|
NM_000057.4(BLM):c.3900C>T (p.Ser1300=)
|
rs769564626
|
|
NM_000057.4(BLM):c.3901C>T (p.Leu1301=)
|
|
|
NM_000057.4(BLM):c.3906C>A (p.Ser1302=)
|
rs2151199747
|
|
NM_000057.4(BLM):c.3906C>T (p.Ser1302=)
|
|
|
NM_000057.4(BLM):c.3909C>T (p.Ser1303=)
|
rs1897408551
|
|
NM_000057.4(BLM):c.3912C>T (p.Ser1304=)
|
|
|
NM_000057.4(BLM):c.3918C>T (p.Gly1306=)
|
rs1393792078
|
|
NM_000057.4(BLM):c.3921C>G (p.Pro1307=)
|
|
|
NM_000057.4(BLM):c.3936T>A (p.Ala1312=)
|
rs1034211979
|
|
NM_000057.4(BLM):c.3936T>C (p.Ala1312=)
|
rs1034211979
|
|
NM_000057.4(BLM):c.3936T>G (p.Ala1312=)
|
|
|
NM_000057.4(BLM):c.3939G>A (p.Glu1313=)
|
rs2151199812
|
|
NM_000057.4(BLM):c.393C>T (p.Ser131=)
|
rs1596218349
|
|
NM_000057.4(BLM):c.3945C>G (p.Leu1315=)
|
|
|
NM_000057.4(BLM):c.3948C>T (p.Asp1316=)
|
rs375896520
|
|
NM_000057.4(BLM):c.3957A>T (p.Ile1319=)
|
rs1555425082
|
|
NM_000057.4(BLM):c.3960C>G (p.Pro1320=)
|
|
|
NM_000057.4(BLM):c.3963A>G (p.Val1321=)
|
rs1325601639
|
|
NM_000057.4(BLM):c.396G>A (p.Arg132=)
|
rs2151147285
|
|
NM_000057.4(BLM):c.3978T>C (p.Phe1326=)
|
rs1265868495
|
|
NM_000057.4(BLM):c.3990C>G (p.Thr1330=)
|
rs2151199889
|
|
NM_000057.4(BLM):c.3990C>T (p.Thr1330=)
|
rs2151199889
|
|
NM_000057.4(BLM):c.399T>C (p.Asp133=)
|
|
|
NM_000057.4(BLM):c.4002G>A (p.Arg1334=)
|
|
|
NM_000057.4(BLM):c.4005G>A (p.Lys1335=)
|
rs1449845656
|
|
NM_000057.4(BLM):c.4023C>A (p.Ala1341=)
|
rs1596273681
|
|
NM_000057.4(BLM):c.4026C>T (p.Ser1342=)
|
rs766689783
|
|
NM_000057.4(BLM):c.4029A>G (p.Gln1343=)
|
rs1596273696
|
|
NM_000057.4(BLM):c.4038G>A (p.Lys1346=)
|
rs2151199967
|
|
NM_000057.4(BLM):c.4041G>A (p.Arg1347=)
|
|
|
NM_000057.4(BLM):c.4050T>C (p.Thr1350=)
|
|
|
NM_000057.4(BLM):c.4068G>A (p.Lys1356=)
|
rs587779890
|
|
NM_000057.4(BLM):c.4074G>A (p.Lys1358=)
|
|
|
NM_000057.4(BLM):c.4076+10G>A
|
rs376445417
|
|
NM_000057.4(BLM):c.4076+10G>C
|
rs376445417
|
|
NM_000057.4(BLM):c.4076+15A>G
|
rs1897418799
|
|
NM_000057.4(BLM):c.4076+17C>A
|
rs2151200054
|
|
NM_000057.4(BLM):c.4076+17C>G
|
|
|
NM_000057.4(BLM):c.4076+19T>C
|
|
|
NM_000057.4(BLM):c.4076+9T>C
|
rs1272366101
|
|
NM_000057.4(BLM):c.4077-11T>C
|
|
|
NM_000057.4(BLM):c.4077-13dup
|
|
|
NM_000057.4(BLM):c.4077-17T>C
|
|
|
NM_000057.4(BLM):c.4077-6T>A
|
|
|
NM_000057.4(BLM):c.4077-8C>T
|
rs2151202218
|
|
NM_000057.4(BLM):c.4077-9A>G
|
|
|
NM_000057.4(BLM):c.4080G>T (p.Gly1360=)
|
|
|
NM_000057.4(BLM):c.4089A>G (p.Thr1363=)
|
rs2151202237
|
|
NM_000057.4(BLM):c.4089A>T (p.Thr1363=)
|
rs2151202237
|
|
NM_000057.4(BLM):c.4098G>A (p.Lys1366=)
|
|
|
NM_000057.4(BLM):c.4104T>G (p.Ser1368=)
|
rs2151202259
|
|
NM_000057.4(BLM):c.4107C>T (p.Ser1369=)
|
|
|
NM_000057.4(BLM):c.4110A>G (p.Lys1370=)
|
rs1555425406
|
|
NM_000057.4(BLM):c.4113G>T (p.Thr1371=)
|
rs61754135
|
|
NM_000057.4(BLM):c.4116A>G (p.Lys1372=)
|
rs753664070
|
|
NM_000057.4(BLM):c.4119C>T (p.Ser1373=)
|
rs1210181566
|
|
NM_000057.4(BLM):c.411G>A (p.Lys137=)
|
|
|
NM_000057.4(BLM):c.4122C>T (p.Ser1374=)
|
rs145277875
|
|
NM_000057.4(BLM):c.4125C>T (p.Ser1375=)
|
|
|
NM_000057.4(BLM):c.4131T>C (p.Ile1377=)
|
|
|
NM_000057.4(BLM):c.4134A>T (p.Gly1378=)
|
rs2151202294
|
|
NM_000057.4(BLM):c.4140T>C (p.Ser1380=)
|
rs747834576
|
|
NM_000057.4(BLM):c.4146C>T (p.Ala1382=)
|
|
|
NM_000057.4(BLM):c.4155T>C (p.Thr1385=)
|
|
|
NM_000057.4(BLM):c.4158T>A (p.Ser1386=)
|
rs746522338
|
|
NM_000057.4(BLM):c.4164G>A (p.Ala1388=)
|
rs1429829646
|
|
NM_000057.4(BLM):c.4164G>C (p.Ala1388=)
|
|
|
NM_000057.4(BLM):c.4164G>T (p.Ala1388=)
|
rs1429829646
|
|
NM_000057.4(BLM):c.4167A>C (p.Thr1389=)
|
rs2151202360
|
|
NM_000057.4(BLM):c.4170A>G (p.Ser1390=)
|
|
|
NM_000057.4(BLM):c.4176C>T (p.Ala1392=)
|
|
|
NM_000057.4(BLM):c.4179T>C (p.Asn1393=)
|
rs1596276561
|
|
NM_000057.4(BLM):c.4191G>A (p.Gly1397=)
|
rs1596276580
|
|
NM_000057.4(BLM):c.4200T>C (p.Ala1400=)
|
rs1596276585
|
|
NM_000057.4(BLM):c.4209G>A (p.Lys1403=)
|
rs1254277623
|
|
NM_000057.4(BLM):c.420A>G (p.Glu140=)
|
rs1895615618
|
|
NM_000057.4(BLM):c.4215A>T (p.Ile1405=)
|
rs1596276635
|
|
NM_000057.4(BLM):c.4218T>C (p.Asn1406=)
|
rs2151202425
|
|
NM_000057.4(BLM):c.4233G>A (p.Lys1411=)
|
rs2151202450
|
|
NM_000057.4(BLM):c.4242T>C (p.Tyr1414=)
|
rs2151202466
|
|
NM_000057.4(BLM):c.4248C>T (p.Phe1416=)
|
rs1567069125
|
|
NM_000057.4(BLM):c.4251A>C (p.Ser1417=)
|
rs886051553
|
|
NM_000057.4(BLM):c.4251A>G (p.Ser1417=)
|
rs886051553
|
|
NM_000057.4(BLM):c.4251A>T (p.Ser1417=)
|
|
|
NM_000057.4(BLM):c.426T>C (p.Ser142=)
|
rs2151147337
|
|
NM_000057.4(BLM):c.42A>G (p.Glu14=)
|
rs2151145021
|
|
NM_000057.4(BLM):c.432A>G (p.Ser144=)
|
|
|
NM_000057.4(BLM):c.435A>G (p.Pro145=)
|
|
|
NM_000057.4(BLM):c.444A>G (p.Leu148=)
|
|
|
NM_000057.4(BLM):c.456T>C (p.Asn152=)
|
rs1316621251
|
|
NM_000057.4(BLM):c.459T>C (p.Asp153=)
|
rs779259379
|
|
NM_000057.4(BLM):c.45T>A (p.Arg15=)
|
rs1458732220
|
|
NM_000057.4(BLM):c.468T>C (p.Asp156=)
|
|
|
NM_000057.4(BLM):c.477C>T (p.Asp159=)
|
rs1276097571
|
|
NM_000057.4(BLM):c.480T>C (p.Phe160=)
|
rs1251281091
|
|
NM_000057.4(BLM):c.483T>C (p.Asp161=)
|
rs2151147439
|
|
NM_000057.4(BLM):c.486T>C (p.Thr162=)
|
rs1596218608
|
|
NM_000057.4(BLM):c.489T>C (p.Ser163=)
|
rs781044650
|
|
NM_000057.4(BLM):c.48C>T (p.His16=)
|
rs757172775
|
|
NM_000057.4(BLM):c.498A>G (p.Ser166=)
|
|
|
NM_000057.4(BLM):c.501A>G (p.Lys167=)
|
rs1895621474
|
|
NM_000057.4(BLM):c.504A>T (p.Ser168=)
|
rs1596218655
|
|
NM_000057.4(BLM):c.510T>C (p.Val170=)
|
|
|
NM_000057.4(BLM):c.510T>G (p.Val170=)
|
|
|
NM_000057.4(BLM):c.513A>G (p.Thr171=)
|
|
|
NM_000057.4(BLM):c.513A>T (p.Thr171=)
|
rs2151147499
|
|
NM_000057.4(BLM):c.531T>C (p.Phe177=)
|
|
|
NM_000057.4(BLM):c.540A>C (p.Val180=)
|
rs763776756
|
|
NM_000057.4(BLM):c.543C>T (p.Ser181=)
|
rs761288442
|
|
NM_000057.4(BLM):c.555A>G (p.Lys185=)
|
rs766947105
|
|
NM_000057.4(BLM):c.558A>G (p.Ser186=)
|
rs982183816
|
|
NM_000057.4(BLM):c.561A>G (p.Lys187=)
|
rs2151147608
|
|
NM_000057.4(BLM):c.564G>A (p.Lys188=)
|
rs1596218841
|
|
NM_000057.4(BLM):c.570G>A (p.Lys190=)
|
rs2151147630
|
|
NM_000057.4(BLM):c.573A>G (p.Arg191=)
|
|
|
NM_000057.4(BLM):c.579T>C (p.Phe193=)
|
|
|
NM_000057.4(BLM):c.582T>C (p.Phe194=)
|
rs1895626638
|
|
NM_000057.4(BLM):c.588A>G (p.Ala196=)
|
|
|
NM_000057.4(BLM):c.600A>C (p.Thr200=)
|
rs1427442721
|
|
NM_000057.4(BLM):c.600A>G (p.Thr200=)
|
|
|
NM_000057.4(BLM):c.612A>G (p.Val204=)
|
rs2151147738
|
|
NM_000057.4(BLM):c.624G>A (p.Leu208=)
|
|
|
NM_000057.4(BLM):c.627T>C (p.Pro209=)
|
|
|
NM_000057.4(BLM):c.633C>A (p.Pro211=)
|
|
|
NM_000057.4(BLM):c.633C>T (p.Pro211=)
|
rs2151147807
|
|
NM_000057.4(BLM):c.636C>G (p.Ser212=)
|
|
|
NM_000057.4(BLM):c.648G>A (p.Glu216=)
|
rs1208450024
|
|
NM_000057.4(BLM):c.651A>G (p.Gln217=)
|
|
|
NM_000057.4(BLM):c.666G>A (p.Glu222=)
|
rs1419771771
|
|
NM_000057.4(BLM):c.672G>A (p.Gln224=)
|
rs1596219135
|
|
NM_000057.4(BLM):c.675G>A (p.Lys225=)
|
rs2151147912
|
|
NM_000057.4(BLM):c.678T>C (p.Asp226=)
|
|
|
NM_000057.4(BLM):c.691T>C (p.Leu231=)
|
|
|
NM_000057.4(BLM):c.699C>T (p.Ser233=)
|
rs200125311
|
|
NM_000057.4(BLM):c.714C>T (p.Ile238=)
|
|
|
NM_000057.4(BLM):c.726C>A (p.Pro242=)
|
rs2151148064
|
|
NM_000057.4(BLM):c.726C>T (p.Pro242=)
|
rs2151148064
|
|
NM_000057.4(BLM):c.732T>C (p.Ala244=)
|
rs2151148080
|
|
NM_000057.4(BLM):c.738G>A (p.Val246=)
|
rs2151148091
|
|
NM_000057.4(BLM):c.756T>C (p.Ala252=)
|
rs1895638603
|
|
NM_000057.4(BLM):c.75A>G (p.Leu25=)
|
rs1276887266
|
|
NM_000057.4(BLM):c.762A>G (p.Glu254=)
|
|
|
NM_000057.4(BLM):c.768C>T (p.Asp256=)
|
rs765788538
|
|
NM_000057.4(BLM):c.789A>G (p.Glu263=)
|
rs1596219365
|
|
NM_000057.4(BLM):c.795A>G (p.Glu265=)
|
rs2151148221
|
|
NM_000057.4(BLM):c.799+12T>C
|
|
|
NM_000057.4(BLM):c.799+14T>A
|
|
|
NM_000057.4(BLM):c.799+15A>G
|
rs2151148258
|
|
NM_000057.4(BLM):c.799+17C>T
|
|
|
NM_000057.4(BLM):c.799+7_799+10del
|
rs1218966283
|
|
NM_000057.4(BLM):c.800-11T>C
|
|
|
NM_000057.4(BLM):c.800-13T>G
|
|
|
NM_000057.4(BLM):c.800-14C>T
|
|
|
NM_000057.4(BLM):c.800-15A>T
|
|
|
NM_000057.4(BLM):c.800-18_800-17delinsAA
|
rs2151149459
|
|
NM_000057.4(BLM):c.800-20T>C
|
|
|
NM_000057.4(BLM):c.800-20_800-18del
|
rs2151149455
|
|
NM_000057.4(BLM):c.800-4G>A
|
rs1338362749
|
|
NM_000057.4(BLM):c.800-5T>C
|
rs1596220949
|
|
NM_000057.4(BLM):c.800-9T>C
|
|
|
NM_000057.4(BLM):c.804T>C (p.Asn268=)
|
|
|
NM_000057.4(BLM):c.810A>G (p.Glu270=)
|
rs1596220978
|
|
NM_000057.4(BLM):c.822T>C (p.Asn274=)
|
rs1596221010
|
|
NM_000057.4(BLM):c.823T>C (p.Leu275=)
|
|
|
NM_000057.4(BLM):c.837A>G (p.Glu279=)
|
rs756158096
|
|
NM_000057.4(BLM):c.84A>G (p.Ser28=)
|
rs1166385360
|
|
NM_000057.4(BLM):c.852G>A (p.Glu284=)
|
rs2151149592
|
|
NM_000057.4(BLM):c.855A>G (p.Lys285=)
|
|
|
NM_000057.4(BLM):c.861A>G (p.Pro287=)
|
rs1555418666
|
|
NM_000057.4(BLM):c.873T>C (p.Phe291=)
|
rs1006578287
|
|
NM_000057.4(BLM):c.876T>C (p.Asp292=)
|
rs1336155306
|
|
NM_000057.4(BLM):c.87A>G (p.Lys29=)
|
rs1895535691
|
|
NM_000057.4(BLM):c.882T>C (p.Asp294=)
|
rs201168622
|
|
NM_000057.4(BLM):c.891T>C (p.Asp297=)
|
rs2151149684
|
|
NM_000057.4(BLM):c.903T>A (p.Val301=)
|
rs2151149711
|
|
NM_000057.4(BLM):c.903T>C (p.Val301=)
|
rs2151149711
|
|
NM_000057.4(BLM):c.909T>G (p.Pro303=)
|
|
|
NM_000057.4(BLM):c.90A>G (p.Pro30=)
|
rs2151145112
|
|
NM_000057.4(BLM):c.930T>C (p.Ser310=)
|
rs1471248156
|
|
NM_000057.4(BLM):c.93A>G (p.Lys31=)
|
rs2151145115
|
|
NM_000057.4(BLM):c.942C>G (p.Ser314=)
|
|
|
NM_000057.4(BLM):c.945T>C (p.Ser315=)
|
rs2151149787
|
|
NM_000057.4(BLM):c.959+10C>A
|
rs2151149826
|
|
NM_000057.4(BLM):c.959+12A>G
|
|
|
NM_000057.4(BLM):c.959+19T>C
|
|
|
NM_000057.4(BLM):c.959+20A>G
|
|
|
NM_000057.4(BLM):c.959+20A>T
|
|
|
NM_000057.4(BLM):c.959+9G>C
|
|
|
NM_000057.4(BLM):c.960-10T>G
|
|
|
NM_000057.4(BLM):c.960-16T>A
|
|
|
NM_000057.4(BLM):c.960-17A>T
|
rs1567037887
|
|
NM_000057.4(BLM):c.960-3C>T
|
rs878962653
|
|
NM_000057.4(BLM):c.960-4G>A
|
rs1555418976
|
|
NM_000057.4(BLM):c.960-7T>C
|
rs2151152020
|
|
NM_000057.4(BLM):c.960-9T>A
|
|
|
NM_000057.4(BLM):c.960-9dup
|
rs758366991
|
|
NM_000057.4(BLM):c.966A>G (p.Leu322=)
|
rs1361231725
|
|
NM_000057.4(BLM):c.96T>C (p.Phe32=)
|
rs2151145118
|
|
NM_000057.4(BLM):c.972C>T (p.Asp324=)
|
rs769094708
|
|
NM_000057.4(BLM):c.975T>C (p.Leu325=)
|
|
|
NM_000057.4(BLM):c.98+15T>C
|
rs2151145139
|
|
NM_000057.4(BLM):c.98+16G>A
|
|
|
NM_000057.4(BLM):c.98+7G>A
|
|
|
NM_000057.4(BLM):c.981C>G (p.Thr327=)
|
rs1140119
|
|
NM_000057.4(BLM):c.981C>T (p.Thr327=)
|
rs1140119
|
|
NM_000057.4(BLM):c.99-15T>C
|
rs2151146672
|
|
NM_000057.4(BLM):c.99-20G>A
|
|
|
NM_000057.4(BLM):c.99-20G>C
|
|
|
NM_000057.4(BLM):c.99-9A>T
|
rs1419730289
|
|
NM_000057.4(BLM):c.99-9_99-7del
|
rs1229333064
|
|
NM_000057.4(BLM):c.990A>G (p.Arg330=)
|
|
|
NM_000057.4(BLM):c.993A>G (p.Lys331=)
|
rs2151152140
|
|
NM_000057.4(BLM):c.996G>A (p.Glu332=)
|
rs2151152149
|
|
NM_000057.4(BLM):c.9T>C (p.Ala3=)
|
rs1596215598
|
|
NM_001172509.2(SATB2):c.1005C>T (p.Ile335=)
|
rs2105823089
|
|
NM_001172509.2(SATB2):c.1008C>T (p.Asn336=)
|
|
|
NM_001172509.2(SATB2):c.1053A>G (p.Pro351=)
|
|
|
NM_001172509.2(SATB2):c.1059A>C (p.Pro353=)
|
rs1277703220
|
|
NM_001172509.2(SATB2):c.1064A>C (p.Asn355Thr)
|
rs1283962528
|
|
NM_001172509.2(SATB2):c.1074G>T (p.Val358=)
|
|
|
NM_001172509.2(SATB2):c.1128T>C (p.Ser376=)
|
rs776791250
|
|
NM_001172509.2(SATB2):c.112G>T (p.Gly38Cys)
|
rs1458922428
|
|
NM_001172509.2(SATB2):c.1155G>A (p.Val385=)
|
|
|
NM_001172509.2(SATB2):c.1173+10G>A
|
|
|
NM_001172509.2(SATB2):c.1173+8T>A
|
rs2105822763
|
|
NM_001172509.2(SATB2):c.1174-12C>G
|
|
|
NM_001172509.2(SATB2):c.1174-13C>A
|
|
|
NM_001172509.2(SATB2):c.1174-18T>C
|
|
|
NM_001172509.2(SATB2):c.1179G>A (p.Leu393=)
|
|
|
NM_001172509.2(SATB2):c.117C>T (p.Ser39=)
|
|
|
NM_001172509.2(SATB2):c.118C>G (p.Pro40Ala)
|
rs1191904885
|
|
NM_001172509.2(SATB2):c.1203A>G (p.Glu401=)
|
rs1574511020
|
|
NM_001172509.2(SATB2):c.1221C>T (p.Ala407=)
|
|
|
NM_001172509.2(SATB2):c.1290T>C (p.Asp430=)
|
|
|
NM_001172509.2(SATB2):c.1332T>C (p.Asn444=)
|
rs955130914
|
|
NM_001172509.2(SATB2):c.1350G>A (p.Ser450=)
|
|
|
NM_001172509.2(SATB2):c.1387-10C>T
|
rs1574506260
|
|
NM_001172509.2(SATB2):c.1387-27ATT[2]
|
|
|
NM_001172509.2(SATB2):c.1389C>T (p.Ala463=)
|
|
|
NM_001172509.2(SATB2):c.1401A>G (p.Thr467=)
|
|
|
NM_001172509.2(SATB2):c.1407A>G (p.Thr469=)
|
rs373031055
|
|
NM_001172509.2(SATB2):c.1407A>T (p.Thr469=)
|
rs373031055
|
|
NM_001172509.2(SATB2):c.1410A>G (p.Thr470=)
|
rs2105789287
|
|
NM_001172509.2(SATB2):c.1413C>T (p.Asp471=)
|
|
|
NM_001172509.2(SATB2):c.1431C>T (p.Asp477=)
|
rs765952558
|
|
NM_001172509.2(SATB2):c.1443C>T (p.Ile481=)
|
|
|
NM_001172509.2(SATB2):c.1452A>G (p.Thr484=)
|
rs2105789191
|
|
NM_001172509.2(SATB2):c.1497G>A (p.Lys499=)
|
|
|
NM_001172509.2(SATB2):c.1503T>C (p.Ser501=)
|
|
|
NM_001172509.2(SATB2):c.150C>G (p.Ala50=)
|
rs778660613
|
|
NM_001172509.2(SATB2):c.150C>T (p.Ala50=)
|
rs778660613
|
|
NM_001172509.2(SATB2):c.1524G>C (p.Val508=)
|
rs1574506012
|
|
NM_001172509.2(SATB2):c.1542+18A>C
|
rs1687956913
|
|
NM_001172509.2(SATB2):c.1542+9T>C
|
rs1306705746
|
|
NM_001172509.2(SATB2):c.1543-18G>A
|
|
|
NM_001172509.2(SATB2):c.1543-19C>T
|
|
|
NM_001172509.2(SATB2):c.1551G>A (p.Leu517=)
|
rs760937399
|
|
NM_001172509.2(SATB2):c.1558C>T (p.Leu520=)
|
|
|
NM_001172509.2(SATB2):c.1577A>T (p.Asn526Ile)
|
rs2105769212
|
|
NM_001172509.2(SATB2):c.1600C>T (p.Leu534Phe)
|
rs2105769179
|
|
NM_001172509.2(SATB2):c.162C>T (p.Ala54=)
|
rs2105957105
|
|
NM_001172509.2(SATB2):c.1658A>G (p.Asp553Gly)
|
|
|
NM_001172509.2(SATB2):c.1662C>T (p.Val554=)
|
|
|
NM_001172509.2(SATB2):c.169+14G>A
|
|
|
NM_001172509.2(SATB2):c.169+9C>T
|
|
|
NM_001172509.2(SATB2):c.1695C>T (p.Ser565=)
|
rs1687513099
|
|
NM_001172509.2(SATB2):c.170-11T>C
|
|
|
NM_001172509.2(SATB2):c.170-17G>T
|
|
|
NM_001172509.2(SATB2):c.1701C>T (p.Arg567=)
|
rs2105768987
|
|
NM_001172509.2(SATB2):c.1710C>T (p.His570=)
|
rs764708410
|
|
NM_001172509.2(SATB2):c.1728T>C (p.Pro576=)
|
rs1452404773
|
|
NM_001172509.2(SATB2):c.1731G>A (p.Glu577=)
|
|
|
NM_001172509.2(SATB2):c.1740+11C>T
|
|
|
NM_001172509.2(SATB2):c.1740+13G>A
|
|
|
NM_001172509.2(SATB2):c.1740+16C>A
|
|
|
NM_001172509.2(SATB2):c.1740+17G>A
|
|
|
NM_001172509.2(SATB2):c.1740+20_1740+29del
|
rs749467784
|
|
NM_001172509.2(SATB2):c.1740+8T>C
|
rs2105768843
|
|
NM_001172509.2(SATB2):c.1741-11T>G
|
|
|
NM_001172509.2(SATB2):c.1741-16C>T
|
rs2105707669
|
|
NM_001172509.2(SATB2):c.1741-6T>C
|
rs1692196719
|
|
NM_001172509.2(SATB2):c.1779T>C (p.Ser593=)
|
|
|
NM_001172509.2(SATB2):c.1800G>A (p.Ala600=)
|
rs764410137
|
|
NM_001172509.2(SATB2):c.1800G>T (p.Ala600=)
|
rs764410137
|
|
NM_001172509.2(SATB2):c.1806C>G (p.Pro602=)
|
|
|
NM_001172509.2(SATB2):c.1806C>T (p.Pro602=)
|
rs1046317203
|
|
NM_001172509.2(SATB2):c.1818G>A (p.Pro606=)
|
rs141436870
|
|
NM_001172509.2(SATB2):c.1853G>A (p.Arg618His)
|
rs1223479618
|
|
NM_001172509.2(SATB2):c.1881G>A (p.Gly627=)
|
|
|
NM_001172509.2(SATB2):c.1887C>T (p.Leu629=)
|
rs2105707174
|
|
NM_001172509.2(SATB2):c.1905T>C (p.Asp635=)
|
|
|
NM_001172509.2(SATB2):c.1962C>T (p.Leu654=)
|
|
|
NM_001172509.2(SATB2):c.1977C>T (p.Ile659=)
|
rs1574458924
|
|
NM_001172509.2(SATB2):c.1995C>A (p.Asn665Lys)
|
rs1692187554
|
|
NM_001172509.2(SATB2):c.2010G>A (p.Val670=)
|
|
|
NM_001172509.2(SATB2):c.201G>A (p.Glu67=)
|
rs924915744
|
|
NM_001172509.2(SATB2):c.2049G>A (p.Ala683=)
|
|
|
NM_001172509.2(SATB2):c.204G>A (p.Gln68=)
|
rs2105929040
|
|
NM_001172509.2(SATB2):c.205T>C (p.Leu69=)
|
rs745323861
|
|
NM_001172509.2(SATB2):c.2088C>A (p.Thr696=)
|
rs143484322
|
|
NM_001172509.2(SATB2):c.2116G>A (p.Gly706Ser)
|
rs1553538875
|
|
NM_001172509.2(SATB2):c.2151G>A (p.Glu717=)
|
|
|
NM_001172509.2(SATB2):c.2172G>A (p.Lys724=)
|
rs915648697
|
|
NM_001172509.2(SATB2):c.2178A>G (p.Ala726=)
|
rs768447747
|
|
NM_001172509.2(SATB2):c.2184C>A (p.Ala728=)
|
|
|
NM_001172509.2(SATB2):c.2190T>A (p.Ile730=)
|
rs1692178208
|
|
NM_001172509.2(SATB2):c.225T>C (p.Tyr75=)
|
rs1357010510
|
|
NM_001172509.2(SATB2):c.232A>C (p.Arg78=)
|
|
|
NM_001172509.2(SATB2):c.246C>T (p.Ala82=)
|
rs146889022
|
|
NM_001172509.2(SATB2):c.273G>A (p.Val91=)
|
|
|
NM_001172509.2(SATB2):c.282C>T (p.Ser94=)
|
|
|
NM_001172509.2(SATB2):c.297T>C (p.Thr99=)
|
rs2105928877
|
|
NM_001172509.2(SATB2):c.304C>T (p.Leu102=)
|
rs1574625153
|
|
NM_001172509.2(SATB2):c.318T>C (p.Tyr106=)
|
rs1330378388
|
|
NM_001172509.2(SATB2):c.333G>A (p.Ala111=)
|
rs140116634
|
|
NM_001172509.2(SATB2):c.346+11C>T
|
|
|
NM_001172509.2(SATB2):c.346+18C>A
|
|
|
NM_001172509.2(SATB2):c.347-20T>C
|
rs1309984102
|
|
NM_001172509.2(SATB2):c.347-4G>A
|
|
|
NM_001172509.2(SATB2):c.357G>A (p.Lys119=)
|
rs1185687010
|
|
NM_001172509.2(SATB2):c.390T>C (p.Tyr130=)
|
|
|
NM_001172509.2(SATB2):c.399T>G (p.Asp133Glu)
|
rs1574568652
|
|
NM_001172509.2(SATB2):c.402A>G (p.Ala134=)
|
|
|
NM_001172509.2(SATB2):c.424A>G (p.Met142Val)
|
rs751779659
|
|
NM_001172509.2(SATB2):c.429A>G (p.Leu143=)
|
rs758472659
|
|
NM_001172509.2(SATB2):c.429A>T (p.Leu143=)
|
rs758472659
|
|
NM_001172509.2(SATB2):c.438C>A (p.Val146=)
|
rs1553496383
|
|
NM_001172509.2(SATB2):c.444T>C (p.His148=)
|
|
|
NM_001172509.2(SATB2):c.46C>A (p.Arg16=)
|
rs937799874
|
|
NM_001172509.2(SATB2):c.473+10T>C
|
rs1257456365
|
|
NM_001172509.2(SATB2):c.473+15_473+17del
|
|
|
NM_001172509.2(SATB2):c.473+16C>T
|
|
|
NM_001172509.2(SATB2):c.473+17A>T
|
|
|
NM_001172509.2(SATB2):c.474-11C>G
|
|
|
NM_001172509.2(SATB2):c.474-14G>A
|
|
|
NM_001172509.2(SATB2):c.51G>A (p.Arg17=)
|
|
|
NM_001172509.2(SATB2):c.537A>G (p.Leu179=)
|
rs2105865933
|
|
NM_001172509.2(SATB2):c.540G>A (p.Lys180=)
|
rs1459002785
|
|
NM_001172509.2(SATB2):c.543A>G (p.Glu181=)
|
|
|
NM_001172509.2(SATB2):c.552A>G (p.Lys184=)
|
|
|
NM_001172509.2(SATB2):c.591C>T (p.Leu197=)
|
rs1574566787
|
|
NM_001172509.2(SATB2):c.594C>G (p.Ser198=)
|
rs747345430
|
|
NM_001172509.2(SATB2):c.597+15G>A
|
|
|
NM_001172509.2(SATB2):c.597+18G>A
|
|
|
NM_001172509.2(SATB2):c.597+20G>A
|
|
|
NM_001172509.2(SATB2):c.598-13T>C
|
|
|
NM_001172509.2(SATB2):c.598-17A>G
|
|
|
NM_001172509.2(SATB2):c.598-4T>C
|
|
|
NM_001172509.2(SATB2):c.598-4del
|
rs199978702
|
|
NM_001172509.2(SATB2):c.612C>T (p.Ser204=)
|
rs2105850112
|
|
NM_001172509.2(SATB2):c.627A>G (p.Thr209=)
|
rs1689357972
|
|
NM_001172509.2(SATB2):c.63G>A (p.Pro21=)
|
rs2105957272
|
|
NM_001172509.2(SATB2):c.663G>A (p.Glu221=)
|
|
|
NM_001172509.2(SATB2):c.678T>C (p.Tyr226=)
|
|
|
NM_001172509.2(SATB2):c.6G>A (p.Glu2=)
|
|
|
NM_001172509.2(SATB2):c.700+11T>C
|
|
|
NM_001172509.2(SATB2):c.700+20T>C
|
|
|
NM_001172509.2(SATB2):c.700+9dup
|
|
|
NM_001172509.2(SATB2):c.701-8C>T
|
rs2105823726
|
|
NM_001172509.2(SATB2):c.723C>T (p.Asn241=)
|
|
|
NM_001172509.2(SATB2):c.729A>G (p.Ser243=)
|
|
|
NM_001172509.2(SATB2):c.750G>A (p.Gln250=)
|
rs1688739636
|
|
NM_001172509.2(SATB2):c.78T>G (p.Pro26=)
|
|
|
NM_001172509.2(SATB2):c.790C>T (p.Leu264=)
|
rs1316738790
|
|
NM_001172509.2(SATB2):c.792G>A (p.Leu264=)
|
|
|
NM_001172509.2(SATB2):c.801C>T (p.Thr267=)
|
|
|
NM_001172509.2(SATB2):c.813T>C (p.Ser271=)
|
rs777362152
|
|
NM_001172509.2(SATB2):c.81C>T (p.Pro27=)
|
|
|
NM_001172509.2(SATB2):c.825A>G (p.Gln275=)
|
rs995750176
|
|
NM_001172509.2(SATB2):c.833A>G (p.His278Arg)
|
rs1688736232
|
|
NM_001172509.2(SATB2):c.855A>G (p.Gln285=)
|
rs904363589
|
|
NM_001172509.2(SATB2):c.861C>T (p.Pro287=)
|
rs762230959
|
|
NM_001172509.2(SATB2):c.909T>C (p.Ser303=)
|
|
|
NM_001172509.2(SATB2):c.912A>T (p.Pro304=)
|
|
|
NM_001172509.2(SATB2):c.927A>G (p.Gln309=)
|
|
|
NM_001172509.2(SATB2):c.942C>G (p.Ala314=)
|
|
|
NM_001172509.2(SATB2):c.966C>A (p.Ala322=)
|
rs139350909
|
|
NM_001172509.2(SATB2):c.966C>T (p.Ala322=)
|
|
|
NM_001172509.2(SATB2):c.972C>T (p.Ser324=)
|
|
|
NM_001172509.2(SATB2):c.974G>A (p.Arg325Gln)
|
rs1559175031
|
|
NM_001172509.2(SATB2):c.983C>A (p.Ala328Asp)
|
rs2105823140
|
|
NM_001172509.2(SATB2):c.994C>A (p.Pro332Thr)
|
|
|
NM_001172509.2(SATB2):c.996T>A (p.Pro332=)
|
|
|
NM_001172509.2(SATB2):c.9G>A (p.Arg3=)
|
rs1204178808
|
|
NM_001211.6(BUB1B):c.1002C>T (p.Pro334=)
|
|
|
NM_001211.6(BUB1B):c.1014C>T (p.Pro338=)
|
|
|
NM_001211.6(BUB1B):c.1058+16G>C
|
|
|
NM_001211.6(BUB1B):c.1058+17G>A
|
|
|
NM_001211.6(BUB1B):c.1058+7G>A
|
|
|
NM_001211.6(BUB1B):c.1058+8_1058+9del
|
rs1217693564
|
|
NM_001211.6(BUB1B):c.1059-7del
|
rs770579508
|
|
NM_001211.6(BUB1B):c.105G>C (p.Gly35=)
|
|
|
NM_001211.6(BUB1B):c.106C>A (p.Arg36=)
|
|
|
NM_001211.6(BUB1B):c.1071A>G (p.Lys357=)
|
rs1595526276
|
|
NM_001211.6(BUB1B):c.1137A>G (p.Leu379=)
|
rs770658836
|
|
NM_001211.6(BUB1B):c.1164G>T (p.Ala388=)
|
rs1047130
|
|
NM_001211.6(BUB1B):c.1176G>A (p.Lys392=)
|
|
|
NM_001211.6(BUB1B):c.1179A>G (p.Lys393=)
|
|
|
NM_001211.6(BUB1B):c.1209T>A (p.Ile403=)
|
rs765503426
|
|
NM_001211.6(BUB1B):c.120G>A (p.Thr40=)
|
rs960840123
|
|
NM_001211.6(BUB1B):c.1246C>A (p.Arg416=)
|
|
|
NM_001211.6(BUB1B):c.1288+12T>C
|
rs994138926
|
|
NM_001211.6(BUB1B):c.1288+18T>G
|
|
|
NM_001211.6(BUB1B):c.1289-11A>C
|
|
|
NM_001211.6(BUB1B):c.1296A>G (p.Leu432=)
|
rs908144833
|
|
NM_001211.6(BUB1B):c.1338T>C (p.Ile446=)
|
|
|
NM_001211.6(BUB1B):c.1401+20A>G
|
|
|
NM_001211.6(BUB1B):c.1413G>A (p.Thr471=)
|
rs374560564
|
|
NM_001211.6(BUB1B):c.1449T>C (p.Ala483=)
|
rs755711414
|
|
NM_001211.6(BUB1B):c.1482A>G (p.Leu494=)
|
|
|
NM_001211.6(BUB1B):c.1515C>T (p.Ala505=)
|
|
|
NM_001211.6(BUB1B):c.1517+10C>T
|
rs373689524
|
|
NM_001211.6(BUB1B):c.1517+15G>C
|
|
|
NM_001211.6(BUB1B):c.1517+20del
|
|
|
NM_001211.6(BUB1B):c.1517+9A>G
|
|
|
NM_001211.6(BUB1B):c.1518-5T>C
|
|
|
NM_001211.6(BUB1B):c.1568-12C>G
|
|
|
NM_001211.6(BUB1B):c.1568-16G>T
|
rs372690199
|
|
NM_001211.6(BUB1B):c.1568-5T>A
|
rs2140901848
|
|
NM_001211.6(BUB1B):c.1575T>C (p.Ser525=)
|
|
|
NM_001211.6(BUB1B):c.1590T>A (p.Ile530=)
|
rs777968728
|
|
NM_001211.6(BUB1B):c.159T>C (p.Asn53=)
|
|
|
NM_001211.6(BUB1B):c.1611A>G (p.Ser537=)
|
rs1595529407
|
|
NM_001211.6(BUB1B):c.1620G>A (p.Lys540=)
|
rs2140901896
|
|
NM_001211.6(BUB1B):c.1628+11T>C
|
|
|
NM_001211.6(BUB1B):c.1628+15T>G
|
|
|
NM_001211.6(BUB1B):c.1628+16G>T
|
|
|
NM_001211.6(BUB1B):c.1628+17_1628+24del
|
rs755262880
|
|
NM_001211.6(BUB1B):c.1628+18T>G
|
|
|
NM_001211.6(BUB1B):c.1628+20T>C
|
|
|
NM_001211.6(BUB1B):c.1628+24_1628+31del
|
|
|
NM_001211.6(BUB1B):c.1628+24_1628+32del
|
rs555567065
|
|
NM_001211.6(BUB1B):c.1628+8G>A
|
|
|
NM_001211.6(BUB1B):c.1629-17G>A
|
|
|
NM_001211.6(BUB1B):c.1677A>G (p.Ala559=)
|
|
|
NM_001211.6(BUB1B):c.171G>A (p.Gln57=)
|
rs777530306
|
|
NM_001211.6(BUB1B):c.1734+16C>T
|
|
|
NM_001211.6(BUB1B):c.1734+9C>T
|
|
|
NM_001211.6(BUB1B):c.1735-20T>A
|
|
|
NM_001211.6(BUB1B):c.1764C>T (p.Ser588=)
|
rs759148358
|
|
NM_001211.6(BUB1B):c.179+15T>C
|
rs1425948264
|
|
NM_001211.6(BUB1B):c.179+8G>A
|
|
|
NM_001211.6(BUB1B):c.180-15C>T
|
|
|
NM_001211.6(BUB1B):c.1815A>T (p.Pro605=)
|
rs778374888
|
|
NM_001211.6(BUB1B):c.1842A>G (p.Ala614=)
|
rs2037635438
|
|
NM_001211.6(BUB1B):c.1938A>G (p.Val646=)
|
rs1189177411
|
|
NM_001211.6(BUB1B):c.1962A>G (p.Thr654=)
|
|
|
NM_001211.6(BUB1B):c.1971C>T (p.Gly657=)
|
|
|
NM_001211.6(BUB1B):c.1980C>T (p.Tyr660=)
|
rs564719711
|
|
NM_001211.6(BUB1B):c.2007G>A (p.Leu669=)
|
rs2140904163
|
|
NM_001211.6(BUB1B):c.2009+10G>A
|
|
|
NM_001211.6(BUB1B):c.2010-16T>C
|
|
|
NM_001211.6(BUB1B):c.2025C>T (p.Asp675=)
|
rs143559902
|
|
NM_001211.6(BUB1B):c.2037C>T (p.Ala679=)
|
rs1595532884
|
|
NM_001211.6(BUB1B):c.2046C>T (p.Ser682=)
|
rs2140905546
|
|
NM_001211.6(BUB1B):c.2073G>A (p.Ser691=)
|
rs765906277
|
|
NM_001211.6(BUB1B):c.2073G>T (p.Ser691=)
|
|
|
NM_001211.6(BUB1B):c.2119C>T (p.Leu707=)
|
rs1595532945
|
|
NM_001211.6(BUB1B):c.2139T>C (p.Thr713=)
|
|
|
NM_001211.6(BUB1B):c.2144-13C>T
|
|
|
NM_001211.6(BUB1B):c.2144-14C>G
|
|
|
NM_001211.6(BUB1B):c.2144-4G>A
|
rs778833334
|
|
NM_001211.6(BUB1B):c.2144-6T>C
|
rs1595533439
|
|
NM_001211.6(BUB1B):c.2160A>T (p.Ser720=)
|
rs1042530525
|
|
NM_001211.6(BUB1B):c.2208G>A (p.Glu736=)
|
rs2037685574
|
|
NM_001211.6(BUB1B):c.2238A>G (p.Glu746=)
|
|
|
NM_001211.6(BUB1B):c.2256G>A (p.Lys752=)
|
rs1555383502
|
|
NM_001211.6(BUB1B):c.2257T>C (p.Leu753=)
|
|
|
NM_001211.6(BUB1B):c.2284+13G>A
|
|
|
NM_001211.6(BUB1B):c.2284+17T>A
|
|
|
NM_001211.6(BUB1B):c.2284+8C>A
|
|
|
NM_001211.6(BUB1B):c.2292G>A (p.Glu764=)
|
rs2140906462
|
|
NM_001211.6(BUB1B):c.2337G>A (p.Lys779=)
|
rs1301115559
|
|
NM_001211.6(BUB1B):c.2352G>A (p.Ala784=)
|
|
|
NM_001211.6(BUB1B):c.2352G>T (p.Ala784=)
|
|
|
NM_001211.6(BUB1B):c.2386-10T>C
|
|
|
NM_001211.6(BUB1B):c.2386-5T>C
|
|
|
NM_001211.6(BUB1B):c.2391T>C (p.Ser797=)
|
rs764329961
|
|
NM_001211.6(BUB1B):c.2391T>G (p.Ser797=)
|
rs764329961
|
|
NM_001211.6(BUB1B):c.240-18C>A
|
|
|
NM_001211.6(BUB1B):c.240-8C>T
|
rs2140881724
|
|
NM_001211.6(BUB1B):c.2412C>T (p.Asp804=)
|
rs1555383645
|
|
NM_001211.6(BUB1B):c.2448T>C (p.Asn816=)
|
rs1595534924
|
|
NM_001211.6(BUB1B):c.2496T>C (p.Cys832=)
|
|
|
NM_001211.6(BUB1B):c.2511A>G (p.Gln837=)
|
|
|
NM_001211.6(BUB1B):c.2520C>T (p.Asn840=)
|
rs1385699061
|
|
NM_001211.6(BUB1B):c.2535+10A>C
|
rs1197837468
|
|
NM_001211.6(BUB1B):c.2535+8A>G
|
rs2140907808
|
|
NM_001211.6(BUB1B):c.2565C>T (p.Thr855=)
|
|
|
NM_001211.6(BUB1B):c.2580G>A (p.Val860=)
|
|
|
NM_001211.6(BUB1B):c.2617C>T (p.Leu873=)
|
|
|
NM_001211.6(BUB1B):c.2678+13C>G
|
|
|
NM_001211.6(BUB1B):c.2703C>T (p.Asn901=)
|
|
|
NM_001211.6(BUB1B):c.270T>G (p.Pro90=)
|
|
|
NM_001211.6(BUB1B):c.2799A>G (p.Val933=)
|
rs755014372
|
|
NM_001211.6(BUB1B):c.2820G>A (p.Lys940=)
|
|
|
NM_001211.6(BUB1B):c.2829T>C (p.Ala943=)
|
|
|
NM_001211.6(BUB1B):c.2850+18C>T
|
|
|
NM_001211.6(BUB1B):c.2850+9A>G
|
rs760887408
|
|
NM_001211.6(BUB1B):c.2851-14T>C
|
|
|
NM_001211.6(BUB1B):c.2851-16C>T
|
rs1173983809
|
|
NM_001211.6(BUB1B):c.2862T>C (p.Phe954=)
|
rs2140912298
|
|
NM_001211.6(BUB1B):c.2931C>T (p.Phe977=)
|
|
|
NM_001211.6(BUB1B):c.2957+19C>T
|
|
|
NM_001211.6(BUB1B):c.2957+8T>C
|
rs2037835582
|
|
NM_001211.6(BUB1B):c.2958-13T>A
|
|
|
NM_001211.6(BUB1B):c.2988C>T (p.Phe996=)
|
|
|
NM_001211.6(BUB1B):c.2997G>A (p.Arg999=)
|
rs2140914718
|
|
NM_001211.6(BUB1B):c.300G>A (p.Thr100=)
|
|
|
NM_001211.6(BUB1B):c.3024A>G (p.Thr1008=)
|
rs2140914771
|
|
NM_001211.6(BUB1B):c.303A>G (p.Leu101=)
|
rs2140881797
|
|
NM_001211.6(BUB1B):c.3045T>C (p.Leu1015=)
|
|
|
NM_001211.6(BUB1B):c.318A>G (p.Val106=)
|
|
|
NM_001211.6(BUB1B):c.327A>G (p.Leu109=)
|
|
|
NM_001211.6(BUB1B):c.35+9G>A
|
rs762785947
|
|
NM_001211.6(BUB1B):c.366C>T (p.Leu122=)
|
|
|
NM_001211.6(BUB1B):c.384+13C>T
|
|
|
NM_001211.6(BUB1B):c.384+9_384+12del
|
rs777147964
|
|
NM_001211.6(BUB1B):c.385-19G>A
|
|
|
NM_001211.6(BUB1B):c.385-7G>C
|
rs2140885381
|
|
NM_001211.6(BUB1B):c.480A>G (p.Glu160=)
|
|
|
NM_001211.6(BUB1B):c.495A>G (p.Arg165=)
|
rs1446251301
|
|
NM_001211.6(BUB1B):c.504T>C (p.Phe168=)
|
|
|
NM_001211.6(BUB1B):c.519G>A (p.Ala173=)
|
rs1595514496
|
|
NM_001211.6(BUB1B):c.540A>G (p.Gln180=)
|
rs1595514520
|
|
NM_001211.6(BUB1B):c.581+10_581+13del
|
rs762654787
|
|
NM_001211.6(BUB1B):c.581+18C>T
|
|
|
NM_001211.6(BUB1B):c.581+7T>G
|
rs1595514579
|
|
NM_001211.6(BUB1B):c.591A>G (p.Gln197=)
|
rs2140889748
|
|
NM_001211.6(BUB1B):c.615G>T (p.Leu205=)
|
|
|
NM_001211.6(BUB1B):c.627G>A (p.Glu209=)
|
rs1354561256
|
|
NM_001211.6(BUB1B):c.630A>G (p.Lys210=)
|
|
|
NM_001211.6(BUB1B):c.663A>G (p.Val221=)
|
rs774346563
|
|
NM_001211.6(BUB1B):c.679C>T (p.Leu227=)
|
rs1211327766
|
|
NM_001211.6(BUB1B):c.684T>C (p.Ala228=)
|
|
|
NM_001211.6(BUB1B):c.6G>A (p.Ala2=)
|
|
|
NM_001211.6(BUB1B):c.714A>C (p.Ala238=)
|
|
|
NM_001211.6(BUB1B):c.751+9G>C
|
rs372133651
|
|
NM_001211.6(BUB1B):c.752-5C>T
|
rs2140890656
|
|
NM_001211.6(BUB1B):c.752-6T>C
|
rs2140890655
|
|
NM_001211.6(BUB1B):c.774C>T (p.Leu258=)
|
|
|
NM_001211.6(BUB1B):c.783A>C (p.Pro261=)
|
|
|
NM_001211.6(BUB1B):c.795G>A (p.Gln265=)
|
|
|
NM_001211.6(BUB1B):c.837T>C (p.Ala279=)
|
|
|
NM_001211.6(BUB1B):c.882A>C (p.Pro294=)
|
rs1595519781
|
|
NM_001211.6(BUB1B):c.882A>G (p.Pro294=)
|
|
|
NM_001211.6(BUB1B):c.897C>A (p.Pro299=)
|
|
|
NM_001211.6(BUB1B):c.897C>G (p.Pro299=)
|
rs374307209
|
|
NM_001211.6(BUB1B):c.903C>T (p.Pro301=)
|
rs2140890815
|
|
NM_001211.6(BUB1B):c.966+20G>T
|
|
|
NM_001211.6(BUB1B):c.966+7A>C
|
rs1595519855
|
|
NM_001211.6(BUB1B):c.967-17TTC[2]
|
rs748654731
|
|
NM_001211.6(BUB1B):c.967-8A>C
|
rs2037349939
|
|
NM_001211.6(BUB1B):c.967-8A>G
|
|
|
NM_001211.6(BUB1B):c.99G>A (p.Arg33=)
|
|
|
NM_001378120.1(MBD5):c.1023A>C (p.Pro341=)
|
|
|
NM_001378120.1(MBD5):c.1035T>C (p.Ala345=)
|
rs2105628565
|
|
NM_001378120.1(MBD5):c.1041G>A (p.Gln347=)
|
|
|
NM_001378120.1(MBD5):c.1041G>T (p.Gln347His)
|
rs746751148
|
|
NM_001378120.1(MBD5):c.1053A>G (p.Leu351=)
|
|
|
NM_001378120.1(MBD5):c.1116C>T (p.Asn372=)
|
|
|
NM_001378120.1(MBD5):c.1117C>G (p.Pro373Ala)
|
rs2105629390
|
|
NM_001378120.1(MBD5):c.1119T>C (p.Pro373=)
|
rs1574459848
|
|
NM_001378120.1(MBD5):c.113+8C>A
|
rs886054908
|
|
NM_001378120.1(MBD5):c.113+8C>T
|
|
|
NM_001378120.1(MBD5):c.113+9T>C
|
|
|
NM_001378120.1(MBD5):c.113+9T>G
|
rs1313785203
|
|
NM_001378120.1(MBD5):c.113+9TTA[2]
|
|
|
NM_001378120.1(MBD5):c.1130A>G (p.Asn377Ser)
|
rs2105629613
|
|
NM_001378120.1(MBD5):c.114-20T>G
|
|
|
NM_001378120.1(MBD5):c.1149A>G (p.Ser383=)
|
|
|
NM_001378120.1(MBD5):c.1170T>C (p.Pro390=)
|
|
|
NM_001378120.1(MBD5):c.1185C>T (p.Ser395=)
|
|
|
NM_001378120.1(MBD5):c.1260G>C (p.Gly420=)
|
rs2105631059
|
|
NM_001378120.1(MBD5):c.1278T>C (p.Val426=)
|
|
|
NM_001378120.1(MBD5):c.1311T>A (p.Ser437=)
|
rs1574460166
|
|
NM_001378120.1(MBD5):c.1344T>C (p.Thr448=)
|
|
|
NM_001378120.1(MBD5):c.1356G>A (p.Arg452=)
|
|
|
NM_001378120.1(MBD5):c.1365A>G (p.Ala455=)
|
|
|
NM_001378120.1(MBD5):c.1386A>G (p.Ser462=)
|
rs2105632499
|
|
NM_001378120.1(MBD5):c.1388C>A (p.Ser463Tyr)
|
rs2105632518
|
|
NM_001378120.1(MBD5):c.1398A>T (p.Ser466=)
|
|
|
NM_001378120.1(MBD5):c.1406A>C (p.His469Pro)
|
rs766571687
|
|
NM_001378120.1(MBD5):c.1407T>C (p.His469=)
|
rs1365232702
|
|
NM_001378120.1(MBD5):c.1413T>C (p.Asn471=)
|
|
|
NM_001378120.1(MBD5):c.1443C>T (p.Ala481=)
|
|
|
NM_001378120.1(MBD5):c.1462G>C (p.Val488Leu)
|
rs778427674
|
|
NM_001378120.1(MBD5):c.1476_1496del (p.Ser495_Arg501del)
|
rs1680712835
|
|
NM_001378120.1(MBD5):c.1484CAA[1] (p.Thr496del)
|
rs1680713005
|
|
NM_001378120.1(MBD5):c.1503G>A (p.Arg501=)
|
|
|
NM_001378120.1(MBD5):c.1539T>C (p.Asp513=)
|
|
|
NM_001378120.1(MBD5):c.1551G>A (p.Gln517=)
|
rs751801483
|
|
NM_001378120.1(MBD5):c.1563C>T (p.Ile521=)
|
rs2105634281
|
|
NM_001378120.1(MBD5):c.1578T>A (p.Ile526=)
|
rs2105634428
|
|
NM_001378120.1(MBD5):c.1589G>A (p.Ser530Asn)
|
rs558138423
|
|
NM_001378120.1(MBD5):c.1593T>C (p.Asn531=)
|
|
|
NM_001378120.1(MBD5):c.162G>C (p.Leu54=)
|
|
|
NM_001378120.1(MBD5):c.1663C>G (p.Pro555Ala)
|
rs1422887607
|
|
NM_001378120.1(MBD5):c.1677A>G (p.Gly559=)
|
|
|
NM_001378120.1(MBD5):c.1682C>T (p.Pro561Leu)
|
rs1680723459
|
|
NM_001378120.1(MBD5):c.1710T>C (p.Asn570=)
|
|
|
NM_001378120.1(MBD5):c.1713T>G (p.Ala571=)
|
rs1436943242
|
|
NM_001378120.1(MBD5):c.1735T>C (p.Leu579=)
|
rs1229800294
|
|
NM_001378120.1(MBD5):c.1773A>G (p.Gln591=)
|
|
|
NM_001378120.1(MBD5):c.1818A>G (p.Gly606=)
|
rs2105636898
|
|
NM_001378120.1(MBD5):c.1828G>T (p.Gly610Cys)
|
rs142495834
|
|
NM_001378120.1(MBD5):c.1837A>G (p.Asn613Asp)
|
rs398124341
|
|
NM_001378120.1(MBD5):c.1842T>C (p.Thr614=)
|
rs1553518662
|
|
NM_001378120.1(MBD5):c.1865C>T (p.Thr622Ile)
|
rs2105637430
|
|
NM_001378120.1(MBD5):c.1872C>T (p.Phe624=)
|
rs540529414
|
|
NM_001378120.1(MBD5):c.189C>T (p.Gly63=)
|
rs1707127066
|
|
NM_001378120.1(MBD5):c.18G>A (p.Glu6=)
|
|
|
NM_001378120.1(MBD5):c.1911G>A (p.Gly637=)
|
rs772127604
|
|
NM_001378120.1(MBD5):c.1913A>G (p.Gln638Arg)
|
rs1680733017
|
|
NM_001378120.1(MBD5):c.1941G>A (p.Lys647=)
|
rs2105638169
|
|
NM_001378120.1(MBD5):c.1966T>C (p.Leu656=)
|
|
|
NM_001378120.1(MBD5):c.1974A>G (p.Lys658=)
|
rs2105638538
|
|
NM_001378120.1(MBD5):c.1989T>C (p.Pro663=)
|
rs2105638695
|
|
NM_001378120.1(MBD5):c.198T>C (p.Cys66=)
|
rs2105571649
|
|
NM_001378120.1(MBD5):c.2108A>G (p.Gln703Arg)
|
rs1553518707
|
|
NM_001378120.1(MBD5):c.2109G>C (p.Gln703His)
|
rs767521281
|
|
NM_001378120.1(MBD5):c.2115A>G (p.Leu705=)
|
rs1680742184
|
|
NM_001378120.1(MBD5):c.2121T>C (p.Ser707=)
|
rs377427161
|
|
NM_001378120.1(MBD5):c.2160C>G (p.Thr720=)
|
rs1680743868
|
|
NM_001378120.1(MBD5):c.2163G>T (p.Pro721=)
|
rs1241365384
|
|
NM_001378120.1(MBD5):c.2170G>A (p.Gly724Arg)
|
rs1553518717
|
|
NM_001378120.1(MBD5):c.2172G>A (p.Gly724=)
|
|
|
NM_001378120.1(MBD5):c.2187T>G (p.Ala729=)
|
rs561323622
|
|
NM_001378120.1(MBD5):c.2268G>A (p.Gly756=)
|
|
|
NM_001378120.1(MBD5):c.2271A>G (p.Glu757=)
|
rs2105641334
|
|
NM_001378120.1(MBD5):c.2322A>G (p.Pro774=)
|
|
|
NM_001378120.1(MBD5):c.2370C>A (p.Ser790Arg)
|
rs376037852
|
|
NM_001378120.1(MBD5):c.2373G>A (p.Gly791=)
|
rs772842301
|
|
NM_001378120.1(MBD5):c.2373G>C (p.Gly791=)
|
|
|
NM_001378120.1(MBD5):c.2376C>T (p.Asn792=)
|
|
|
NM_001378120.1(MBD5):c.2384T>C (p.Met795Thr)
|
rs1446479503
|
|
NM_001378120.1(MBD5):c.2388C>T (p.Leu796=)
|
|
|
NM_001378120.1(MBD5):c.2396C>G (p.Ser799Trp)
|
rs759990854
|
|
NM_001378120.1(MBD5):c.2397G>A (p.Ser799=)
|
rs2105642607
|
|
NM_001378120.1(MBD5):c.2415T>C (p.Asn805=)
|
|
|
NM_001378120.1(MBD5):c.2429A>G (p.Asn810Ser)
|
rs754126406
|
|
NM_001378120.1(MBD5):c.2439G>A (p.Gln813=)
|
|
|
NM_001378120.1(MBD5):c.2442A>G (p.Ser814=)
|
rs2105643173
|
|
NM_001378120.1(MBD5):c.2472A>C (p.Ile824=)
|
rs1574462288
|
|
NM_001378120.1(MBD5):c.2508T>C (p.Ser836=)
|
|
|
NM_001378120.1(MBD5):c.2518+16A>G
|
|
|
NM_001378120.1(MBD5):c.2518+7T>A
|
|
|
NM_001378120.1(MBD5):c.2519-10T>C
|
|
|
NM_001378120.1(MBD5):c.2519-16T>G
|
|
|
NM_001378120.1(MBD5):c.2519-8C>T
|
rs761957089
|
|
NM_001378120.1(MBD5):c.2519-8del
|
rs1467351680
|
|
NM_001378120.1(MBD5):c.2526A>G (p.Ser842=)
|
|
|
NM_001378120.1(MBD5):c.2530C>T (p.Pro844Ser)
|
rs1283171716
|
|
NM_001378120.1(MBD5):c.253A>C (p.Arg85=)
|
|
|
NM_001378120.1(MBD5):c.2541C>A (p.Ser847=)
|
rs1574476656
|
|
NM_001378120.1(MBD5):c.2552C>T (p.Ala851Val)
|
rs144557654
|
|
NM_001378120.1(MBD5):c.2558C>A (p.Thr853Asn)
|
rs780490918
|
|
NM_001378120.1(MBD5):c.2559C>A (p.Thr853=)
|
rs1681216580
|
|
NM_001378120.1(MBD5):c.2565C>T (p.His855=)
|
rs2105071741
|
|
NM_001378120.1(MBD5):c.2577A>G (p.Thr859=)
|
rs2105071848
|
|
NM_001378120.1(MBD5):c.2586A>C (p.Thr862=)
|
rs1681217813
|
|
NM_001378120.1(MBD5):c.2595T>A (p.Leu865=)
|
rs2105072069
|
|
NM_001378120.1(MBD5):c.2598A>G (p.Gln866=)
|
|
|
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile)
|
rs116207524
|
|
NM_001378120.1(MBD5):c.2637G>C (p.Leu879=)
|
rs2105072411
|
|
NM_001378120.1(MBD5):c.2646G>A (p.Gln882=)
|
|
|
NM_001378120.1(MBD5):c.2648T>C (p.Leu883Pro)
|
rs1681220458
|
|
NM_001378120.1(MBD5):c.2649A>G (p.Leu883=)
|
rs1681220561
|
|
NM_001378120.1(MBD5):c.2685G>A (p.Glu895=)
|
rs2105072801
|
|
NM_001378120.1(MBD5):c.2689G>A (p.Ala897Thr)
|
rs778516851
|
|
NM_001378120.1(MBD5):c.2724C>G (p.Asn908Lys)
|
rs779824788
|
|
NM_001378120.1(MBD5):c.2727T>A (p.His909Gln)
|
rs1681223550
|
|
NM_001378120.1(MBD5):c.2772C>T (p.Ile924=)
|
|
|
NM_001378120.1(MBD5):c.2778G>A (p.Leu926=)
|
rs760520878
|
|
NM_001378120.1(MBD5):c.27A>T (p.Gly9=)
|
|
|
NM_001378120.1(MBD5):c.2814A>G (p.Leu938=)
|
|
|
NM_001378120.1(MBD5):c.2829G>A (p.Gln943=)
|
|
|
NM_001378120.1(MBD5):c.2856G>A (p.Glu952=)
|
|
|
NM_001378120.1(MBD5):c.2861A>G (p.Asn954Ser)
|
|
|
NM_001378120.1(MBD5):c.30G>A (p.Gly10=)
|
|
|
NM_001378120.1(MBD5):c.332C>T (p.Thr111Ile)
|
rs1707174997
|
|
NM_001378120.1(MBD5):c.3555A>G (p.Ser1185=)
|
|
|
NM_001378120.1(MBD5):c.3558A>C (p.Ser1186=)
|
|
|
NM_001378120.1(MBD5):c.3567T>C (p.Asn1189=)
|
|
|
NM_001378120.1(MBD5):c.3595C>T (p.Leu1199=)
|
rs2105093530
|
|
NM_001378120.1(MBD5):c.3603G>T (p.Ser1201=)
|
rs138058889
|
|
NM_001378120.1(MBD5):c.3607T>C (p.Leu1203=)
|
rs1574480161
|
|
NM_001378120.1(MBD5):c.3636T>C (p.Asn1212=)
|
|
|
NM_001378120.1(MBD5):c.3642A>T (p.Gln1214His)
|
rs1465735521
|
|
NM_001378120.1(MBD5):c.3657C>T (p.Leu1219=)
|
|
|
NM_001378120.1(MBD5):c.3663G>A (p.Gly1221=)
|
rs774912000
|
|
NM_001378120.1(MBD5):c.3666C>T (p.Tyr1222=)
|
rs781114483
|
|
NM_001378120.1(MBD5):c.3675C>G (p.Leu1225=)
|
rs1681323012
|
|
NM_001378120.1(MBD5):c.3699A>G (p.Thr1233=)
|
rs2105094289
|
|
NM_001378120.1(MBD5):c.3707G>T (p.Cys1236Phe)
|
rs2105094326
|
|
NM_001378120.1(MBD5):c.3714T>C (p.Ala1238=)
|
|
|
NM_001378120.1(MBD5):c.3753+11C>A
|
|
|
NM_001378120.1(MBD5):c.3753+15T>A
|
rs1057524750
|
|
NM_001378120.1(MBD5):c.3754-15_3754-12del
|
|
|
NM_001378120.1(MBD5):c.3754-20T>C
|
|
|
NM_001378120.1(MBD5):c.3768A>G (p.Glu1256=)
|
rs1681443066
|
|
NM_001378120.1(MBD5):c.3786C>G (p.Asn1262Lys)
|
rs771343592
|
|
NM_001378120.1(MBD5):c.3786C>T (p.Asn1262=)
|
rs771343592
|
|
NM_001378120.1(MBD5):c.3793A>G (p.Ile1265Val)
|
rs774513612
|
|
NM_001378120.1(MBD5):c.3803A>C (p.Gln1268Pro)
|
rs1559098476
|
|
NM_001378120.1(MBD5):c.3837C>T (p.Asn1279=)
|
rs772658882
|
|
NM_001378120.1(MBD5):c.3840T>C (p.Thr1280=)
|
rs1681446139
|
|
NM_001378120.1(MBD5):c.3864A>C (p.Thr1288=)
|
|
|
NM_001378120.1(MBD5):c.3894A>C (p.Pro1298=)
|
|
|
NM_001378120.1(MBD5):c.3920G>T (p.Gly1307Val)
|
rs2105124889
|
|
NM_001378120.1(MBD5):c.3936C>T (p.Gly1312=)
|
|
|
NM_001378120.1(MBD5):c.3959C>T (p.Ala1320Val)
|
rs1479424507
|
|
NM_001378120.1(MBD5):c.3963T>C (p.Ile1321=)
|
rs2105125356
|
|
NM_001378120.1(MBD5):c.397+10A>T
|
rs2105582849
|
|
NM_001378120.1(MBD5):c.397+8A>G
|
|
|
NM_001378120.1(MBD5):c.398-11T>C
|
|
|
NM_001378120.1(MBD5):c.398-18T>C
|
|
|
NM_001378120.1(MBD5):c.398-5A>G
|
|
|
NM_001378120.1(MBD5):c.3988A>G (p.Ser1330Gly)
|
rs753239849
|
|
NM_001378120.1(MBD5):c.4002G>A (p.Gln1334=)
|
|
|
NM_001378120.1(MBD5):c.4017T>C (p.Thr1339=)
|
rs2105125745
|
|
NM_001378120.1(MBD5):c.4020A>G (p.Ala1340=)
|
rs1273991401
|
|
NM_001378120.1(MBD5):c.4032A>C (p.Thr1344=)
|
|
|
NM_001378120.1(MBD5):c.4083C>T (p.Ala1361=)
|
rs2105126139
|
|
NM_001378120.1(MBD5):c.4098A>G (p.Pro1366=)
|
rs2105126312
|
|
NM_001378120.1(MBD5):c.4116T>C (p.Ala1372=)
|
|
|
NM_001378120.1(MBD5):c.4122T>C (p.Ser1374=)
|
rs2105126495
|
|
NM_001378120.1(MBD5):c.4127T>A (p.Val1376Asp)
|
rs1227323118
|
|
NM_001378120.1(MBD5):c.4134T>G (p.His1378Gln)
|
rs1051689897
|
|
NM_001378120.1(MBD5):c.4159C>A (p.His1387Asn)
|
rs2105127038
|
|
NM_001378120.1(MBD5):c.4170G>A (p.Arg1390=)
|
rs1312513915
|
|
NM_001378120.1(MBD5):c.417T>C (p.Pro139=)
|
|
|
NM_001378120.1(MBD5):c.4183A>C (p.Arg1395=)
|
|
|
NM_001378120.1(MBD5):c.4188G>A (p.Gly1396=)
|
rs1443120715
|
|
NM_001378120.1(MBD5):c.4194G>A (p.Arg1398=)
|
rs2105127403
|
|
NM_001378120.1(MBD5):c.4209A>G (p.Leu1403=)
|
|
|
NM_001378120.1(MBD5):c.4230C>T (p.Asn1410=)
|
|
|
NM_001378120.1(MBD5):c.4238A>T (p.Asp1413Val)
|
rs752035001
|
|
NM_001378120.1(MBD5):c.4275A>C (p.Thr1425=)
|
|
|
NM_001378120.1(MBD5):c.4293C>T (p.Asp1431=)
|
|
|
NM_001378120.1(MBD5):c.4294G>C (p.Gly1432Arg)
|
rs201334086
|
|
NM_001378120.1(MBD5):c.4296G>A (p.Gly1432=)
|
|
|
NM_001378120.1(MBD5):c.4296G>C (p.Gly1432=)
|
rs746043647
|
|
NM_001378120.1(MBD5):c.4326G>A (p.Arg1442=)
|
rs766189023
|
|
NM_001378120.1(MBD5):c.4347A>G (p.Leu1449=)
|
rs2105128674
|
|
NM_001378120.1(MBD5):c.4410G>A (p.Leu1470=)
|
|
|
NM_001378120.1(MBD5):c.4419G>T (p.Leu1473=)
|
rs748173028
|
|
NM_001378120.1(MBD5):c.4441C>T (p.Leu1481=)
|
|
|
NM_001378120.1(MBD5):c.4446A>G (p.Leu1482=)
|
|
|
NM_001378120.1(MBD5):c.4464A>G (p.Pro1488=)
|
rs2105129699
|
|
NM_001378120.1(MBD5):c.4475T>G (p.Ile1492Ser)
|
rs762922278
|
|
NM_001378120.1(MBD5):c.4516A>G (p.Met1506Val)
|
rs898923113
|
|
NM_001378120.1(MBD5):c.4548T>C (p.Thr1516=)
|
rs1681478115
|
|
NM_001378120.1(MBD5):c.4557A>G (p.Arg1519=)
|
rs1681478303
|
|
NM_001378120.1(MBD5):c.457C>T (p.His153Tyr)
|
rs2105622546
|
|
NM_001378120.1(MBD5):c.4581A>G (p.Arg1527=)
|
rs1055672536
|
|
NM_001378120.1(MBD5):c.4589A>G (p.Gln1530Arg)
|
rs1681479202
|
|
NM_001378120.1(MBD5):c.4590G>A (p.Gln1530=)
|
rs1057521419
|
|
NM_001378120.1(MBD5):c.4596G>A (p.Arg1532=)
|
rs2105130693
|
|
NM_001378120.1(MBD5):c.4623A>G (p.Ala1541=)
|
rs1574485595
|
|
NM_001378120.1(MBD5):c.4634T>C (p.Leu1545Pro)
|
rs1474107442
|
|
NM_001378120.1(MBD5):c.4644G>A (p.Glu1548=)
|
|
|
NM_001378120.1(MBD5):c.4647G>A (p.Glu1549=)
|
|
|
NM_001378120.1(MBD5):c.4718T>G (p.Phe1573Cys)
|
rs1406467148
|
|
NM_001378120.1(MBD5):c.4722T>C (p.Asn1574=)
|
|
|
NM_001378120.1(MBD5):c.4733T>G (p.Val1578Gly)
|
rs1681484970
|
|
NM_001378120.1(MBD5):c.4749T>C (p.Pro1583=)
|
rs1057523104
|
|
NM_001378120.1(MBD5):c.477T>C (p.Ser159=)
|
rs2105622763
|
|
NM_001378120.1(MBD5):c.4800A>G (p.Pro1600=)
|
rs1553520655
|
|
NM_001378120.1(MBD5):c.4845G>A (p.Thr1615=)
|
rs759890387
|
|
NM_001378120.1(MBD5):c.4878C>T (p.Ile1626=)
|
|
|
NM_001378120.1(MBD5):c.4889C>A (p.Thr1630Asn)
|
rs2105133001
|
|
NM_001378120.1(MBD5):c.4890T>C (p.Thr1630=)
|
|
|
NM_001378120.1(MBD5):c.4935A>C (p.Ser1645=)
|
rs149419174
|
|
NM_001378120.1(MBD5):c.4935A>G (p.Ser1645=)
|
rs149419174
|
|
NM_001378120.1(MBD5):c.4950C>G (p.Pro1650=)
|
rs148394839
|
|
NM_001378120.1(MBD5):c.4950C>T (p.Pro1650=)
|
rs148394839
|
|
NM_001378120.1(MBD5):c.4962+7C>T
|
|
|
NM_001378120.1(MBD5):c.4995A>G (p.Glu1665=)
|
rs1057521520
|
|
NM_001378120.1(MBD5):c.5007C>T (p.Ala1669=)
|
rs2105226035
|
|
NM_001378120.1(MBD5):c.5010C>T (p.Tyr1670=)
|
rs1057523158
|
|
NM_001378120.1(MBD5):c.5025A>G (p.Lys1675=)
|
rs1574497842
|
|
NM_001378120.1(MBD5):c.5033G>T (p.Arg1678Ile)
|
rs749723920
|
|
NM_001378120.1(MBD5):c.5036+8del
|
|
|
NM_001378120.1(MBD5):c.5037-12C>T
|
|
|
NM_001378120.1(MBD5):c.5037-19T>G
|
|
|
NM_001378120.1(MBD5):c.5049A>C (p.Leu1683=)
|
|
|
NM_001378120.1(MBD5):c.504C>A (p.Phe168Leu)
|
rs2105622881
|
|
NM_001378120.1(MBD5):c.5073T>A (p.Ile1691=)
|
|
|
NM_001378120.1(MBD5):c.5109G>A (p.Gly1703=)
|
|
|
NM_001378120.1(MBD5):c.5112+11T>G
|
rs2105278869
|
|
NM_001378120.1(MBD5):c.5113-16A>G
|
|
|
NM_001378120.1(MBD5):c.5113-18C>T
|
|
|
NM_001378120.1(MBD5):c.5151C>T (p.Pro1717=)
|
|
|
NM_001378120.1(MBD5):c.516T>C (p.Ile172=)
|
|
|
NM_001378120.1(MBD5):c.5181A>G (p.Arg1727=)
|
|
|
NM_001378120.1(MBD5):c.528T>C (p.Asn176=)
|
rs1574458750
|
|
NM_001378120.1(MBD5):c.531C>T (p.Ala177=)
|
rs2105623085
|
|
NM_001378120.1(MBD5):c.537A>G (p.Gly179=)
|
rs1204024575
|
|
NM_001378120.1(MBD5):c.539G>A (p.Arg180Lys)
|
rs1680666184
|
|
NM_001378120.1(MBD5):c.543A>G (p.Leu181=)
|
|
|
NM_001378120.1(MBD5):c.589G>T (p.Val197Phe)
|
rs760892595
|
|
NM_001378120.1(MBD5):c.599G>T (p.Arg200Leu)
|
rs149278000
|
|
NM_001378120.1(MBD5):c.603G>A (p.Gln201=)
|
|
|
NM_001378120.1(MBD5):c.606A>T (p.Arg202Ser)
|
rs1553518446
|
|
NM_001378120.1(MBD5):c.638C>T (p.Pro213Leu)
|
rs755861220
|
|
NM_001378120.1(MBD5):c.644G>A (p.Arg215His)
|
rs771325235
|
|
NM_001378120.1(MBD5):c.648C>A (p.Gly216=)
|
rs1188063685
|
|
NM_001378120.1(MBD5):c.654T>C (p.His218=)
|
rs1353208243
|
|
NM_001378120.1(MBD5):c.666C>T (p.Pro222=)
|
rs1349108004
|
|
NM_001378120.1(MBD5):c.66T>C (p.Pro22=)
|
|
|
NM_001378120.1(MBD5):c.670C>T (p.Pro224Ser)
|
rs1680672685
|
|
NM_001378120.1(MBD5):c.696T>C (p.Tyr232=)
|
|
|
NM_001378120.1(MBD5):c.774T>C (p.His258=)
|
|
|
NM_001378120.1(MBD5):c.798T>C (p.Ile266=)
|
rs1208664164
|
|
NM_001378120.1(MBD5):c.805A>T (p.Asn269Tyr)
|
rs768720064
|
|
NM_001378120.1(MBD5):c.81T>C (p.Arg27=)
|
rs746075256
|
|
NM_001378120.1(MBD5):c.825A>G (p.Pro275=)
|
|
|
NM_001378120.1(MBD5):c.840A>G (p.Leu280=)
|
rs2105626382
|
|
NM_001378120.1(MBD5):c.864C>G (p.Ser288=)
|
|
|
NM_001378120.1(MBD5):c.869C>G (p.Ala290Gly)
|
rs1559085941
|
|
NM_001378120.1(MBD5):c.900C>T (p.Ser300=)
|
rs2105626982
|
|
NM_001378120.1(MBD5):c.924A>C (p.Pro308=)
|
rs778385281
|
|
NM_001378120.1(MBD5):c.939A>G (p.Pro313=)
|
rs781250091
|
|
NM_001378120.1(MBD5):c.941T>C (p.Met314Thr)
|
rs1168673827
|
|
NM_001378120.1(MBD5):c.987C>T (p.His329=)
|
rs1574459598
|
|
NM_001379200.1(TBX1):c.1008C>T (p.Ser336=)
|
|
|
NM_001379200.1(TBX1):c.1011G>A (p.Pro337=)
|
|
|
NM_001379200.1(TBX1):c.1020C>T (p.Pro340=)
|
|
|
NM_001379200.1(TBX1):c.1023C>T (p.Ser341=)
|
rs1227296562
|
|
NM_001379200.1(TBX1):c.1029G>A (p.Thr343=)
|
|
|
NM_001379200.1(TBX1):c.1036+11G>A
|
|
|
NM_001379200.1(TBX1):c.1036+17G>A
|
rs1601292943
|
|
NM_001379200.1(TBX1):c.1036+18G>A
|
|
|
NM_001379200.1(TBX1):c.1036+18G>C
|
rs2145837264
|
|
NM_001379200.1(TBX1):c.1037-12C>T
|
|
|
NM_001379200.1(TBX1):c.1037-14G>T
|
|
|
NM_001379200.1(TBX1):c.1037-15C>G
|
|
|
NM_001379200.1(TBX1):c.1037-17C>G
|
|
|
NM_001379200.1(TBX1):c.1037-6C>T
|
|
|
NM_001379200.1(TBX1):c.1051C>A (p.Arg351=)
|
|
|
NM_001379200.1(TBX1):c.1074G>C (p.Ala358=)
|
|
|
NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp)
|
rs781731042
|
|
NM_001379200.1(TBX1):c.108C>T (p.Phe36=)
|
rs1378203817
|
|
NM_001379200.1(TBX1):c.1095G>A (p.Gly365=)
|
|
|
NM_001379200.1(TBX1):c.1101G>A (p.Pro367=)
|
rs1010293843
|
|
NM_001379200.1(TBX1):c.1104G>C (p.Ala368=)
|
|
|
NM_001379200.1(TBX1):c.1120C>T (p.Leu374=)
|
|
|
NM_001379200.1(TBX1):c.1125C>T (p.Ala375=)
|
rs1936849382
|
|
NM_001379200.1(TBX1):c.1137C>T (p.Ser379=)
|
|
|
NM_001379200.1(TBX1):c.114C>A (p.Gly38=)
|
|
|
NM_001379200.1(TBX1):c.114C>T (p.Gly38=)
|
|
|
NM_001379200.1(TBX1):c.1152G>C (p.Gly384=)
|
rs1354472648
|
|
NM_001379200.1(TBX1):c.1153GCCGGCGGC[3] (p.385AGG[3])
|
rs1288296547
|
|
NM_001379200.1(TBX1):c.1158C>T (p.Gly386=)
|
|
|
NM_001379200.1(TBX1):c.1161C>G (p.Gly387=)
|
|
|
NM_001379200.1(TBX1):c.1167C>A (p.Gly389=)
|
rs111605258
|
|
NM_001379200.1(TBX1):c.1167C>T (p.Gly389=)
|
|
|
NM_001379200.1(TBX1):c.117C>T (p.Ala39=)
|
|
|
NM_001379200.1(TBX1):c.1185C>T (p.Pro395=)
|
|
|
NM_001379200.1(TBX1):c.1194C>T (p.Pro398=)
|
|
|
NM_001379200.1(TBX1):c.1212C>T (p.Pro404=)
|
rs1168835856
|
|
NM_001379200.1(TBX1):c.1214C>A (p.Pro405Gln)
|
rs746812421
|
|
NM_001379200.1(TBX1):c.1221C>A (p.Pro407=)
|
rs1305509653
|
|
NM_001379200.1(TBX1):c.1224G>A (p.Glu408=)
|
|
|
NM_001379200.1(TBX1):c.1231C>T (p.Leu411=)
|
rs2145838647
|
|
NM_001379200.1(TBX1):c.1239G>A (p.Ala413=)
|
rs1228513970
|
|
NM_001379200.1(TBX1):c.1239G>C (p.Ala413=)
|
|
|
NM_001379200.1(TBX1):c.1239G>T (p.Ala413=)
|
|
|
NM_001379200.1(TBX1):c.1242C>A (p.Pro414=)
|
rs200135498
|
|
NM_001379200.1(TBX1):c.1242C>G (p.Pro414=)
|
rs200135498
|
|
NM_001379200.1(TBX1):c.1251G>C (p.Ser417=)
|
rs770781746
|
|
NM_001379200.1(TBX1):c.1260G>A (p.Leu420=)
|
|
|
NM_001379200.1(TBX1):c.1263C>T (p.His421=)
|
|
|
NM_001379200.1(TBX1):c.1269C>T (p.His423=)
|
rs761327170
|
|
NM_001379200.1(TBX1):c.126C>T (p.Pro42=)
|
|
|
NM_001379200.1(TBX1):c.1275C>T (p.Tyr425=)
|
rs2145838867
|
|
NM_001379200.1(TBX1):c.1296C>T (p.Tyr432=)
|
|
|
NM_001379200.1(TBX1):c.1311G>A (p.Gly437=)
|
|
|
NM_001379200.1(TBX1):c.1317G>A (p.Lys439=)
|
|
|
NM_001379200.1(TBX1):c.1341G>T (p.Leu447=)
|
|
|
NM_001379200.1(TBX1):c.1356C>T (p.Gly452=)
|
|
|
NM_001379200.1(TBX1):c.1368_1379dup (p.Ala459_His462dup)
|
rs774578030
|
|
NM_001379200.1(TBX1):c.1377G>A (p.Ala459=)
|
|
|
NM_001379200.1(TBX1):c.1377G>T (p.Ala459=)
|
rs771540171
|
|
NM_001379200.1(TBX1):c.1385ACC[4] (p.His466del)
|
rs753713234
|
|
NM_001379200.1(TBX1):c.1401C>T (p.Pro467=)
|
rs753192876
|
|
NM_001379200.1(TBX1):c.1402G>T (p.Val468Leu)
|
rs764197422
|
|
NM_001379200.1(TBX1):c.1410A>G (p.Pro470=)
|
|
|
NM_001379200.1(TBX1):c.1410_1448del (p.Ala473_Ala485del)
|
rs764911027
|
|
NM_001379200.1(TBX1):c.1419_1427del (p.Ala483_Ala485del)
|
rs777514486
|
|
NM_001379200.1(TBX1):c.141C>T (p.Tyr47=)
|
|
|
NM_001379200.1(TBX1):c.1422C>T (p.Ala474=)
|
|
|
NM_001379200.1(TBX1):c.1422CGC[1] (p.Ala483_Ala485del)
|
|
|
NM_001379200.1(TBX1):c.1428C>T (p.Ala476=)
|
|
|
NM_001379200.1(TBX1):c.1431C>A (p.Ala477=)
|
|
|
NM_001379200.1(TBX1):c.1431_1439del (p.Ala483_Ala485del)
|
rs774489872
|
|
NM_001379200.1(TBX1):c.1434T>C (p.Ala478=)
|
|
|
NM_001379200.1(TBX1):c.1434T>G (p.Ala478=)
|
|
|
NM_001379200.1(TBX1):c.1437C>G (p.Ala479=)
|
|
|
NM_001379200.1(TBX1):c.1440A>G (p.Ala480=)
|
|
|
NM_001379200.1(TBX1):c.1440_1448del (p.Ala483_Ala485del)
|
rs748434309
|
|
NM_001379200.1(TBX1):c.1443T>C (p.Ala481=)
|
|
|
NM_001379200.1(TBX1):c.1473C>T (p.Ala491=)
|
rs775895785
|
|
NM_001379200.1(TBX1):c.1488C>T (p.Pro496=)
|
|
|
NM_001379200.1(TBX1):c.1500C>T (p.Asp500=)
|
|
|
NM_001379200.1(TBX1):c.153G>A (p.Glu51=)
|
|
|
NM_001379200.1(TBX1):c.156C>A (p.Pro52=)
|
|
|
NM_001379200.1(TBX1):c.156C>T (p.Pro52=)
|
|
|
NM_001379200.1(TBX1):c.158CGC[6] (p.Pro57dup)
|
rs886038791
|
|
NM_001379200.1(TBX1):c.183G>T (p.Pro61=)
|
rs1422322991
|
|
NM_001379200.1(TBX1):c.195C>A (p.Ala65=)
|
|
|
NM_001379200.1(TBX1):c.225G>C (p.Pro75=)
|
|
|
NM_001379200.1(TBX1):c.228G>T (p.Pro76=)
|
|
|
NM_001379200.1(TBX1):c.234C>T (p.Ala78=)
|
|
|
NM_001379200.1(TBX1):c.237C>T (p.Tyr79=)
|
|
|
NM_001379200.1(TBX1):c.240G>A (p.Pro80=)
|
|
|
NM_001379200.1(TBX1):c.246G>T (p.Ala82=)
|
rs1201666534
|
|
NM_001379200.1(TBX1):c.258G>A (p.Gly86=)
|
|
|
NM_001379200.1(TBX1):c.258G>C (p.Gly86=)
|
|
|
NM_001379200.1(TBX1):c.273C>T (p.Ala91=)
|
rs1936644941
|
|
NM_001379200.1(TBX1):c.285C>G (p.Pro95=)
|
|
|
NM_001379200.1(TBX1):c.297G>A (p.Gly99=)
|
|
|
NM_001379200.1(TBX1):c.306C>T (p.Cys102=)
|
|
|
NM_001379200.1(TBX1):c.324G>T (p.Ala108=)
|
|
|
NM_001379200.1(TBX1):c.363G>T (p.Val121=)
|
|
|
NM_001379200.1(TBX1):c.369A>G (p.Leu123=)
|
rs541899328
|
|
NM_001379200.1(TBX1):c.381G>T (p.Ala127=)
|
|
|
NM_001379200.1(TBX1):c.399C>T (p.Asn133=)
|
rs2145828636
|
|
NM_001379200.1(TBX1):c.429G>A (p.Lys143=)
|
|
|
NM_001379200.1(TBX1):c.432C>T (p.Ala144=)
|
|
|
NM_001379200.1(TBX1):c.437+18C>G
|
|
|
NM_001379200.1(TBX1):c.437+18C>T
|
|
|
NM_001379200.1(TBX1):c.437+8C>T
|
|
|
NM_001379200.1(TBX1):c.45T>C (p.His15=)
|
|
|
NM_001379200.1(TBX1):c.465G>A (p.Lys155=)
|
|
|
NM_001379200.1(TBX1):c.474C>T (p.Gly158=)
|
|
|
NM_001379200.1(TBX1):c.483C>G (p.Pro161=)
|
|
|
NM_001379200.1(TBX1):c.49T>C (p.Cys17Arg)
|
|
|
NM_001379200.1(TBX1):c.513C>T (p.Phe171=)
|
rs764371266
|
|
NM_001379200.1(TBX1):c.519G>T (p.Pro173=)
|
|
|
NM_001379200.1(TBX1):c.51C>T (p.Cys17=)
|
rs2145827460
|
|
NM_001379200.1(TBX1):c.539+14dup
|
|
|
NM_001379200.1(TBX1):c.539+16dup
|
|
|
NM_001379200.1(TBX1):c.539+7G>C
|
rs780062926
|
|
NM_001379200.1(TBX1):c.539+8A>T
|
|
|
NM_001379200.1(TBX1):c.539+8_539+10dup
|
rs2145832489
|
|
NM_001379200.1(TBX1):c.540-12G>C
|
|
|
NM_001379200.1(TBX1):c.540-18C>T
|
|
|
NM_001379200.1(TBX1):c.546C>T (p.Ala182=)
|
rs1035684349
|
|
NM_001379200.1(TBX1):c.573G>C (p.Ala191=)
|
|
|
NM_001379200.1(TBX1):c.591C>T (p.Ala197=)
|
rs1601289330
|
|
NM_001379200.1(TBX1):c.603C>T (p.Arg201=)
|
rs761495882
|
|
NM_001379200.1(TBX1):c.606G>A (p.Val202=)
|
|
|
NM_001379200.1(TBX1):c.612C>T (p.Tyr204=)
|
|
|
NM_001379200.1(TBX1):c.615C>T (p.His205=)
|
|
|
NM_001379200.1(TBX1):c.627T>C (p.Pro209=)
|
|
|
NM_001379200.1(TBX1):c.639G>A (p.Ala213=)
|
|
|
NM_001379200.1(TBX1):c.639G>T (p.Ala213=)
|
rs778071107
|
|
NM_001379200.1(TBX1):c.654A>G (p.Gln218=)
|
rs2145834016
|
|
NM_001379200.1(TBX1):c.657C>A (p.Ile219=)
|
|
|
NM_001379200.1(TBX1):c.660G>A (p.Val220=)
|
|
|
NM_001379200.1(TBX1):c.679C>T (p.Leu227=)
|
|
|
NM_001379200.1(TBX1):c.684C>A (p.Thr228=)
|
|
|
NM_001379200.1(TBX1):c.702C>T (p.Asp234=)
|
rs2145834112
|
|
NM_001379200.1(TBX1):c.708C>G (p.Gly236=)
|
|
|
NM_001379200.1(TBX1):c.711+13C>T
|
|
|
NM_001379200.1(TBX1):c.711+16C>T
|
|
|
NM_001379200.1(TBX1):c.712-12C>T
|
|
|
NM_001379200.1(TBX1):c.712-4C>G
|
|
|
NM_001379200.1(TBX1):c.754G>A (p.Val252Met)
|
|
|
NM_001379200.1(TBX1):c.762T>C (p.Tyr254=)
|
|
|
NM_001379200.1(TBX1):c.795C>T (p.Ala265=)
|
|
|
NM_001379200.1(TBX1):c.813C>T (p.Thr271=)
|
rs989667101
|
|
NM_001379200.1(TBX1):c.840C>G (p.Thr280=)
|
|
|
NM_001379200.1(TBX1):c.843G>A (p.Ala281=)
|
|
|
NM_001379200.1(TBX1):c.867+12_867+24del
|
|
|
NM_001379200.1(TBX1):c.867+18G>A
|
|
|
NM_001379200.1(TBX1):c.868-16A>T
|
|
|
NM_001379200.1(TBX1):c.868-19CA[3]
|
|
|
NM_001379200.1(TBX1):c.868-20T>G
|
rs2145836392
|
|
NM_001379200.1(TBX1):c.868-4G>A
|
|
|
NM_001379200.1(TBX1):c.868-6C>T
|
|
|
NM_001379200.1(TBX1):c.868-7C>T
|
|
|
NM_001379200.1(TBX1):c.870C>A (p.Ile290=)
|
|
|
NM_001379200.1(TBX1):c.876G>A (p.Gln292=)
|
|
|
NM_001379200.1(TBX1):c.897C>T (p.Pro299=)
|
|
|
NM_001379200.1(TBX1):c.909C>T (p.Gly303=)
|
|
|
NM_001379200.1(TBX1):c.930G>A (p.Glu310=)
|
rs1185050794
|
|
NM_001379200.1(TBX1):c.935+14C>T
|
|
|
NM_001379200.1(TBX1):c.935+15C>T
|
|
|
NM_001379200.1(TBX1):c.935+17G>A
|
|
|
NM_001379200.1(TBX1):c.935+17del
|
|
|
NM_001379200.1(TBX1):c.935+19G>C
|
|
|
NM_001379200.1(TBX1):c.936-15G>A
|
|
|
NM_001379200.1(TBX1):c.936-15G>C
|
|
|
NM_001379200.1(TBX1):c.936-16C>A
|
|
|
NM_001379200.1(TBX1):c.936-4G>C
|
|
|
NM_001379200.1(TBX1):c.936-6C>T
|
|
|
NM_001379200.1(TBX1):c.936-8G>A
|
rs753380966
|
|
NM_001379200.1(TBX1):c.936-9C>G
|
|
|
NM_001379200.1(TBX1):c.936-9C>T
|
|
|
NM_001379200.1(TBX1):c.942G>T (p.Arg314=)
|
|
|
NM_001379200.1(TBX1):c.966G>A (p.Pro322=)
|
|
|
NM_001379200.1(TBX1):c.990G>A (p.Ser330=)
|
|
|
NM_002397.5(MEF2C):c.1002T>C (p.Ser334=)
|
rs2152208828
|
|
NM_002397.5(MEF2C):c.1005G>T (p.Gly335=)
|
|
|
NM_002397.5(MEF2C):c.1011C>T (p.Asn337=)
|
|
|
NM_002397.5(MEF2C):c.1017C>T (p.Ala339=)
|
rs1581323265
|
|
NM_002397.5(MEF2C):c.1030C>T (p.Leu344Phe)
|
rs980341351
|
|
NM_002397.5(MEF2C):c.1038A>T (p.Ser346=)
|
|
|
NM_002397.5(MEF2C):c.1056G>A (p.Gln352=)
|
|
|
NM_002397.5(MEF2C):c.105G>A (p.Leu35=)
|
|
|
NM_002397.5(MEF2C):c.108C>T (p.Ser36=)
|
rs143129901
|
|
NM_002397.5(MEF2C):c.1100+17T>C
|
|
|
NM_002397.5(MEF2C):c.1100+18T>C
|
|
|
NM_002397.5(MEF2C):c.1101-20G>A
|
|
|
NM_002397.5(MEF2C):c.1119T>C (p.His373=)
|
rs2152046393
|
|
NM_002397.5(MEF2C):c.1203T>C (p.Arg401=)
|
rs34381004
|
|
NM_002397.5(MEF2C):c.1218G>T (p.Ser406=)
|
rs759655835
|
|
NM_002397.5(MEF2C):c.1233C>T (p.His411=)
|
|
|
NM_002397.5(MEF2C):c.1236G>A (p.Thr412=)
|
|
|
NM_002397.5(MEF2C):c.1239C>A (p.Arg413=)
|
|
|
NM_002397.5(MEF2C):c.1299G>A (p.Gly433=)
|
rs771241026
|
|
NM_002397.5(MEF2C):c.1302C>T (p.Ser434=)
|
|
|
NM_002397.5(MEF2C):c.1341T>C (p.Ile447=)
|
|
|
NM_002397.5(MEF2C):c.1353A>G (p.Arg451=)
|
|
|
NM_002397.5(MEF2C):c.1354C>A (p.Pro452Thr)
|
|
|
NM_002397.5(MEF2C):c.1359G>T (p.Ser453=)
|
rs1224709005
|
|
NM_002397.5(MEF2C):c.1377T>C (p.Ser459=)
|
rs2152041593
|
|
NM_002397.5(MEF2C):c.1383A>T (p.Ser461=)
|
rs2152041410
|
|
NM_002397.5(MEF2C):c.1396C>A (p.Arg466=)
|
|
|
NM_002397.5(MEF2C):c.1398A>G (p.Arg466=)
|
rs2152041098
|
|
NM_002397.5(MEF2C):c.1401T>G (p.Leu467=)
|
rs1291920482
|
|
NM_002397.5(MEF2C):c.168G>A (p.Gln56=)
|
|
|
NM_002397.5(MEF2C):c.194T>C (p.Val65Ala)
|
rs1580988074
|
|
NM_002397.5(MEF2C):c.195G>T (p.Val65=)
|
rs1186763422
|
|
NM_002397.5(MEF2C):c.204G>A (p.Lys68=)
|
rs1580987960
|
|
NM_002397.5(MEF2C):c.225G>T (p.Pro75=)
|
rs779924552
|
|
NM_002397.5(MEF2C):c.235C>A (p.Arg79=)
|
rs1021588454
|
|
NM_002397.5(MEF2C):c.243C>T (p.Asn81=)
|
|
|
NM_002397.5(MEF2C):c.249C>T (p.Asp83=)
|
|
|
NM_002397.5(MEF2C):c.258+13_258+14delinsAT
|
rs2153073599
|
|
NM_002397.5(MEF2C):c.259-16A>T
|
|
|
NM_002397.5(MEF2C):c.259-17C>T
|
|
|
NM_002397.5(MEF2C):c.259-19T>C
|
|
|
NM_002397.5(MEF2C):c.303C>G (p.Pro101=)
|
|
|
NM_002397.5(MEF2C):c.306T>C (p.Asp102=)
|
|
|
NM_002397.5(MEF2C):c.30G>A (p.Arg10=)
|
rs2153222913
|
|
NM_002397.5(MEF2C):c.318C>T (p.Ser106=)
|
rs760986750
|
|
NM_002397.5(MEF2C):c.352A>C (p.Arg118=)
|
|
|
NM_002397.5(MEF2C):c.402+19del
|
|
|
NM_002397.5(MEF2C):c.402+8C>T
|
rs1777690728
|
|
NM_002397.5(MEF2C):c.402+9T>G
|
rs2152672913
|
|
NM_002397.5(MEF2C):c.403-14T>G
|
|
|
NM_002397.5(MEF2C):c.403-8T>A
|
rs1581754208
|
|
NM_002397.5(MEF2C):c.456C>T (p.His152=)
|
rs1554112204
|
|
NM_002397.5(MEF2C):c.463T>C (p.Leu155=)
|
rs927377195
|
|
NM_002397.5(MEF2C):c.471C>T (p.Tyr157=)
|
|
|
NM_002397.5(MEF2C):c.490C>T (p.Leu164=)
|
rs1390261667
|
|
NM_002397.5(MEF2C):c.514C>T (p.Leu172=)
|
rs1772969049
|
|
NM_002397.5(MEF2C):c.51A>G (p.Arg17=)
|
|
|
NM_002397.5(MEF2C):c.522C>T (p.His174=)
|
|
|
NM_002397.5(MEF2C):c.534G>A (p.Gln178=)
|
|
|
NM_002397.5(MEF2C):c.54+11T>C
|
|
|
NM_002397.5(MEF2C):c.54+12A>C
|
|
|
NM_002397.5(MEF2C):c.54+13A>G
|
|
|
NM_002397.5(MEF2C):c.54+8G>T
|
rs2153222799
|
|
NM_002397.5(MEF2C):c.55-14T>C
|
|
|
NM_002397.5(MEF2C):c.566G>A (p.Arg189Gln)
|
|
|
NM_002397.5(MEF2C):c.589+16G>T
|
|
|
NM_002397.5(MEF2C):c.590-15C>G
|
|
|
NM_002397.5(MEF2C):c.590-4A>G
|
|
|
NM_002397.5(MEF2C):c.595C>T (p.Leu199=)
|
rs1472815211
|
|
NM_002397.5(MEF2C):c.611T>G (p.Leu204Arg)
|
rs2152497517
|
|
NM_002397.5(MEF2C):c.612C>G (p.Leu204=)
|
rs1771367792
|
|
NM_002397.5(MEF2C):c.637+9A>G
|
rs1581701842
|
|
NM_002397.5(MEF2C):c.638-11T>C
|
|
|
NM_002397.5(MEF2C):c.638-14T>C
|
|
|
NM_002397.5(MEF2C):c.638-15G>A
|
|
|
NM_002397.5(MEF2C):c.638-7T>C
|
|
|
NM_002397.5(MEF2C):c.645G>A (p.Gly215=)
|
rs1406989584
|
|
NM_002397.5(MEF2C):c.651C>A (p.Gly217=)
|
rs929360766
|
|
NM_002397.5(MEF2C):c.657C>T (p.Pro219=)
|
rs1477294607
|
|
NM_002397.5(MEF2C):c.66A>G (p.Thr22=)
|
rs2153075042
|
|
NM_002397.5(MEF2C):c.690T>C (p.Gly230=)
|
rs1168200349
|
|
NM_002397.5(MEF2C):c.699C>T (p.Asn233=)
|
rs2152280530
|
|
NM_002397.5(MEF2C):c.729A>G (p.Pro243=)
|
|
|
NM_002397.5(MEF2C):c.72G>A (p.Arg24=)
|
rs1057522729
|
|
NM_002397.5(MEF2C):c.750C>T (p.Asn250=)
|
|
|
NM_002397.5(MEF2C):c.768A>G (p.Arg256=)
|
rs2152279899
|
|
NM_002397.5(MEF2C):c.773T>A (p.Leu258His)
|
rs1268731100
|
|
NM_002397.5(MEF2C):c.810+13T>G
|
|
|
NM_002397.5(MEF2C):c.811-14C>T
|
|
|
NM_002397.5(MEF2C):c.811-17C>T
|
|
|
NM_002397.5(MEF2C):c.834+13A>G
|
|
|
NM_002397.5(MEF2C):c.835-10_835-7del
|
rs1291357632
|
|
NM_002397.5(MEF2C):c.835-20C>A
|
|
|
NM_002397.5(MEF2C):c.855C>T (p.Ser285=)
|
|
|
NM_002397.5(MEF2C):c.864T>C (p.Ala288=)
|
rs2152224964
|
|
NM_002397.5(MEF2C):c.891C>T (p.Ser297=)
|
rs755665375
|
|
NM_002397.5(MEF2C):c.900T>A (p.Thr300=)
|
|
|
NM_002397.5(MEF2C):c.965-10T>G
|
|
|
NM_002397.5(MEF2C):c.965-15T>C
|
rs2152209795
|
|
NM_002397.5(MEF2C):c.965-19_965-17del
|
|
|
NM_002397.5(MEF2C):c.965-6A>C
|
rs2152209415
|
|
NM_002397.5(MEF2C):c.988C>T (p.Leu330=)
|
|
|
NM_002397.5(MEF2C):c.990G>T (p.Leu330=)
|
|
|
NM_002397.5(MEF2C):c.99T>C (p.Tyr33=)
|
|
|
NM_014679.5(CEP57):c.1011T>G (p.Ser337=)
|
|
|
NM_014679.5(CEP57):c.1020T>C (p.Gly340=)
|
rs1420610366
|
|
NM_014679.5(CEP57):c.1065T>C (p.Gly355=)
|
rs1555053912
|
|
NM_014679.5(CEP57):c.1099T>C (p.Leu367=)
|
rs759922227
|
|
NM_014679.5(CEP57):c.1104G>A (p.Gln368=)
|
rs1590958462
|
|
NM_014679.5(CEP57):c.1127+11_1127+14del
|
rs1862827042
|
|
NM_014679.5(CEP57):c.1128-16_1128-14del
|
|
|
NM_014679.5(CEP57):c.1128-17T>A
|
|
|
NM_014679.5(CEP57):c.1128-19A>G
|
|
|
NM_014679.5(CEP57):c.1128-4A>C
|
rs1862886218
|
|
NM_014679.5(CEP57):c.1128-4A>G
|
rs1862886218
|
|
NM_014679.5(CEP57):c.1137G>A (p.Gln379=)
|
rs2135378484
|
|
NM_014679.5(CEP57):c.1170C>T (p.Thr390=)
|
rs1262812878
|
|
NM_014679.5(CEP57):c.1179G>T (p.Leu393=)
|
|
|
NM_014679.5(CEP57):c.1201T>C (p.Leu401=)
|
|
|
NM_014679.5(CEP57):c.1206G>A (p.Glu402=)
|
|
|
NM_014679.5(CEP57):c.1209A>C (p.Ala403=)
|
rs2135378884
|
|
NM_014679.5(CEP57):c.1236C>G (p.Ala412=)
|
|
|
NM_014679.5(CEP57):c.1272+10T>C
|
rs2135379159
|
|
NM_014679.5(CEP57):c.1272+12_1272+13del
|
|
|
NM_014679.5(CEP57):c.1272+13T>G
|
|
|
NM_014679.5(CEP57):c.1323A>G (p.Lys441=)
|
|
|
NM_014679.5(CEP57):c.1329T>G (p.Thr443=)
|
rs2135384084
|
|
NM_014679.5(CEP57):c.132T>C (p.Pro44=)
|
|
|
NM_014679.5(CEP57):c.1335T>C (p.Asp445=)
|
|
|
NM_014679.5(CEP57):c.1344A>G (p.Arg448=)
|
rs2135384164
|
|
NM_014679.5(CEP57):c.1347C>T (p.Asn449=)
|
|
|
NM_014679.5(CEP57):c.138T>G (p.Leu46=)
|
rs2135259669
|
|
NM_014679.5(CEP57):c.1392T>C (p.Asp464=)
|
rs2135384405
|
|
NM_014679.5(CEP57):c.1404G>C (p.Leu468=)
|
rs2135384476
|
|
NM_014679.5(CEP57):c.144T>C (p.Ser48=)
|
rs952135399
|
|
NM_014679.5(CEP57):c.1455A>G (p.Gln485=)
|
|
|
NM_014679.5(CEP57):c.148C>T (p.Leu50=)
|
|
|
NM_014679.5(CEP57):c.1491T>C (p.Cys497=)
|
|
|
NM_014679.5(CEP57):c.15T>G (p.Ser5=)
|
rs1860990343
|
|
NM_014679.5(CEP57):c.18C>G (p.Val6=)
|
|
|
NM_014679.5(CEP57):c.202+16G>A
|
|
|
NM_014679.5(CEP57):c.202+17A>C
|
|
|
NM_014679.5(CEP57):c.203-15G>A
|
|
|
NM_014679.5(CEP57):c.21T>C (p.Ser7=)
|
|
|
NM_014679.5(CEP57):c.247T>C (p.Leu83=)
|
|
|
NM_014679.5(CEP57):c.249G>A (p.Leu83=)
|
|
|
NM_014679.5(CEP57):c.33T>G (p.Gly11=)
|
|
|
NM_014679.5(CEP57):c.382+10_382+12del
|
rs750802143
|
|
NM_014679.5(CEP57):c.382+14G>T
|
|
|
NM_014679.5(CEP57):c.382+9del
|
|
|
NM_014679.5(CEP57):c.383-10T>C
|
|
|
NM_014679.5(CEP57):c.383-15A>G
|
|
|
NM_014679.5(CEP57):c.417A>G (p.Lys139=)
|
rs1248749562
|
|
NM_014679.5(CEP57):c.42G>A (p.Leu14=)
|
|
|
NM_014679.5(CEP57):c.438A>G (p.Gln146=)
|
|
|
NM_014679.5(CEP57):c.45+16C>T
|
rs374203661
|
|
NM_014679.5(CEP57):c.45+17G>A
|
|
|
NM_014679.5(CEP57):c.45+17G>C
|
|
|
NM_014679.5(CEP57):c.451C>A (p.Arg151=)
|
rs771182933
|
|
NM_014679.5(CEP57):c.46-10dup
|
|
|
NM_014679.5(CEP57):c.46-11T>C
|
rs1298510341
|
|
NM_014679.5(CEP57):c.46-9A>C
|
rs780066541
|
|
NM_014679.5(CEP57):c.504+19A>C
|
rs777827395
|
|
NM_014679.5(CEP57):c.516A>G (p.Glu172=)
|
rs772095352
|
|
NM_014679.5(CEP57):c.552C>T (p.Ser184=)
|
rs765801435
|
|
NM_014679.5(CEP57):c.555A>G (p.Gln185=)
|
rs773682444
|
|
NM_014679.5(CEP57):c.57T>A (p.Ala19=)
|
|
|
NM_014679.5(CEP57):c.622-12T>C
|
|
|
NM_014679.5(CEP57):c.63A>G (p.Pro21=)
|
rs1861471358
|
|
NM_014679.5(CEP57):c.645A>G (p.Ala215=)
|
rs2135342060
|
|
NM_014679.5(CEP57):c.654T>C (p.His218=)
|
|
|
NM_014679.5(CEP57):c.657A>G (p.Glu219=)
|
rs142615007
|
|
NM_014679.5(CEP57):c.65C>T (p.Ser22Leu)
|
rs554897859
|
|
NM_014679.5(CEP57):c.666G>A (p.Gln222=)
|
|
|
NM_014679.5(CEP57):c.699+7T>C
|
|
|
NM_014679.5(CEP57):c.700-19A>C
|
|
|
NM_014679.5(CEP57):c.700-4C>T
|
rs2135351739
|
|
NM_014679.5(CEP57):c.711T>A (p.Gly237=)
|
rs2135351805
|
|
NM_014679.5(CEP57):c.723T>C (p.Asn241=)
|
rs76411609
|
|
NM_014679.5(CEP57):c.729T>C (p.Leu243=)
|
|
|
NM_014679.5(CEP57):c.753G>C (p.Pro251=)
|
rs11742
|
|
NM_014679.5(CEP57):c.75T>C (p.Asn25=)
|
rs770013483
|
|
NM_014679.5(CEP57):c.772A>C (p.Arg258=)
|
|
|
NM_014679.5(CEP57):c.798A>T (p.Pro266=)
|
|
|
NM_014679.5(CEP57):c.807+16C>A
|
|
|
NM_014679.5(CEP57):c.886-7C>T
|
|
|
NM_014679.5(CEP57):c.88C>A (p.Arg30=)
|
rs749693319
|
|
NM_014679.5(CEP57):c.909G>A (p.Val303=)
|
rs1862809034
|
|
NM_014679.5(CEP57):c.90G>C (p.Arg30=)
|
rs560835162
|
|
NM_014679.5(CEP57):c.915C>G (p.Ala305=)
|
|
|
NM_014679.5(CEP57):c.915C>T (p.Ala305=)
|
|
|
NM_014679.5(CEP57):c.918T>C (p.Asn306=)
|
rs984460249
|
|
NM_022455.5(NSD1):c.1064-10C>T
|
rs1057523596
|
|
NM_022455.5(NSD1):c.1064-6A>T
|
|
|
NM_022455.5(NSD1):c.1064-9C>T
|
|
|
NM_022455.5(NSD1):c.1236+17G>A
|
rs886038671
|
|
NM_022455.5(NSD1):c.1236+9C>T
|
|
|
NM_022455.5(NSD1):c.1338A>T (p.Ser446=)
|
rs2149842674
|
|
NM_022455.5(NSD1):c.1395G>A (p.Glu465=)
|
|
|
NM_022455.5(NSD1):c.1407C>A (p.Asp469Glu)
|
|
|
NM_022455.5(NSD1):c.1410G>A (p.Leu470=)
|
|
|
NM_022455.5(NSD1):c.141T>C (p.Thr47=)
|
|
|
NM_022455.5(NSD1):c.1483G>A (p.Ala495Thr)
|
rs752490855
|
|
NM_022455.5(NSD1):c.151T>C (p.Ser51Pro)
|
|
|
NM_022455.5(NSD1):c.1634C>T (p.Thr545Met)
|
|
|
NM_022455.5(NSD1):c.1783G>A (p.Glu595Lys)
|
|
|
NM_022455.5(NSD1):c.1800A>C (p.Ser600=)
|
rs2149843727
|
|
NM_022455.5(NSD1):c.1811G>A (p.Arg604Gln)
|
rs61744451
|
|
NM_022455.5(NSD1):c.1813G>C (p.Glu605Gln)
|
rs971996804
|
|
NM_022455.5(NSD1):c.1874G>A (p.Gly625Glu)
|
|
|
NM_022455.5(NSD1):c.1925C>T (p.Ser642Phe)
|
|
|
NM_022455.5(NSD1):c.2026T>C (p.Leu676=)
|
|
|
NM_022455.5(NSD1):c.2073C>T (p.Ala691=)
|
rs1054023528
|
|
NM_022455.5(NSD1):c.2091A>G (p.Lys697=)
|
|
|
NM_022455.5(NSD1):c.2155G>A (p.Ala719Thr)
|
|
|
NM_022455.5(NSD1):c.2175G>A (p.Thr725=)
|
|
|
NM_022455.5(NSD1):c.2175_2176inv (p.Ser726Pro)
|
|
|
NM_022455.5(NSD1):c.2241A>G (p.Thr747=)
|
|
|
NM_022455.5(NSD1):c.2249C>T (p.Ala750Val)
|
|
|
NM_022455.5(NSD1):c.2250T>A (p.Ala750=)
|
|
|
NM_022455.5(NSD1):c.2376C>T (p.Cys792=)
|
rs368839996
|
|
NM_022455.5(NSD1):c.2401G>A (p.Ala801Thr)
|
|
|
NM_022455.5(NSD1):c.2417T>C (p.Ile806Thr)
|
|
|
NM_022455.5(NSD1):c.252A>G (p.Val84=)
|
|
|
NM_022455.5(NSD1):c.2565A>G (p.Ala855=)
|
|
|
NM_022455.5(NSD1):c.2652A>G (p.Pro884=)
|
rs1060504243
|
|
NM_022455.5(NSD1):c.2669T>A (p.Phe890Tyr)
|
|
|
NM_022455.5(NSD1):c.2776C>T (p.Arg926Trp)
|
rs886038674
|
|
NM_022455.5(NSD1):c.2805T>C (p.Ser935=)
|
|
|
NM_022455.5(NSD1):c.2853A>C (p.Gly951=)
|
|
|
NM_022455.5(NSD1):c.290T>A (p.Phe97Tyr)
|
|
|
NM_022455.5(NSD1):c.2930A>G (p.Asn977Ser)
|
|
|
NM_022455.5(NSD1):c.2970G>T (p.Glu990Asp)
|
|
|
NM_022455.5(NSD1):c.2976T>A (p.Ser992=)
|
|
|
NM_022455.5(NSD1):c.3034C>T (p.Arg1012Cys)
|
|
|
NM_022455.5(NSD1):c.3151G>A (p.Glu1051Lys)
|
|
|
NM_022455.5(NSD1):c.3155G>A (p.Arg1052His)
|
|
|
NM_022455.5(NSD1):c.3226G>A (p.Gly1076Ser)
|
|
|
NM_022455.5(NSD1):c.3321T>C (p.Asp1107=)
|
|
|
NM_022455.5(NSD1):c.3348A>G (p.Gln1116=)
|
|
|
NM_022455.5(NSD1):c.3383C>T (p.Ser1128Phe)
|
rs559441081
|
|
NM_022455.5(NSD1):c.3409C>T (p.Leu1137=)
|
|
|
NM_022455.5(NSD1):c.3446A>C (p.Asn1149Thr)
|
|
|
NM_022455.5(NSD1):c.3511C>T (p.Arg1171Cys)
|
|
|
NM_022455.5(NSD1):c.3639A>G (p.Ile1213Met)
|
rs1425698482
|
|
NM_022455.5(NSD1):c.3664A>G (p.Asn1222Asp)
|
|
|
NM_022455.5(NSD1):c.3762C>T (p.Pro1254=)
|
rs794727734
|
|
NM_022455.5(NSD1):c.3771A>G (p.Thr1257=)
|
|
|
NM_022455.5(NSD1):c.3819C>T (p.Arg1273=)
|
|
|
NM_022455.5(NSD1):c.3921+18A>G
|
|
|
NM_022455.5(NSD1):c.3965G>C (p.Arg1322Pro)
|
rs750684515
|
|
NM_022455.5(NSD1):c.3966A>C (p.Arg1322=)
|
|
|
NM_022455.5(NSD1):c.405C>T (p.Ser135=)
|
|
|
NM_022455.5(NSD1):c.4107G>A (p.Pro1369=)
|
|
|
NM_022455.5(NSD1):c.4193-17A>G
|
|
|
NM_022455.5(NSD1):c.4193-8C>T
|
|
|
NM_022455.5(NSD1):c.4257C>A (p.Asp1419Glu)
|
|
|
NM_022455.5(NSD1):c.4303-8A>G
|
|
|
NM_022455.5(NSD1):c.4308T>C (p.Tyr1436=)
|
|
|
NM_022455.5(NSD1):c.4378+15_4378+16del
|
rs2149894868
|
|
NM_022455.5(NSD1):c.4458G>A (p.Val1486=)
|
|
|
NM_022455.5(NSD1):c.4473G>A (p.Ser1491=)
|
rs150920473
|
|
NM_022455.5(NSD1):c.451C>T (p.Leu151=)
|
|
|
NM_022455.5(NSD1):c.4563C>T (p.His1521=)
|
|
|
NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr)
|
rs201483724
|
|
NM_022455.5(NSD1):c.4722T>G (p.Thr1574=)
|
rs1279409189
|
|
NM_022455.5(NSD1):c.4765+18C>T
|
rs751340849
|
|
NM_022455.5(NSD1):c.4765+19G>A
|
|
|
NM_022455.5(NSD1):c.4766-7T>C
|
rs2149912243
|
|
NM_022455.5(NSD1):c.4766-9G>T
|
rs747358179
|
|
NM_022455.5(NSD1):c.4818C>T (p.Cys1606=)
|
|
|
NM_022455.5(NSD1):c.4860C>T (p.Val1620=)
|
rs1756523594
|
|
NM_022455.5(NSD1):c.487G>A (p.Asp163Asn)
|
|
|
NM_022455.5(NSD1):c.4959A>G (p.Ala1653=)
|
|
|
NM_022455.5(NSD1):c.4966+7A>G
|
rs2149912804
|
|
NM_022455.5(NSD1):c.4967-12T>A
|
|
|
NM_022455.5(NSD1):c.4995T>C (p.Pro1665=)
|
|
|
NM_022455.5(NSD1):c.5147-12T>G
|
|
|
NM_022455.5(NSD1):c.5218G>A (p.Glu1740Lys)
|
|
|
NM_022455.5(NSD1):c.5235C>T (p.Cys1745=)
|
|
|
NM_022455.5(NSD1):c.5269A>C (p.Arg1757=)
|
rs1280607631
|
|
NM_022455.5(NSD1):c.530A>G (p.Asp177Gly)
|
rs538618950
|
|
NM_022455.5(NSD1):c.5382C>T (p.Phe1794=)
|
rs878855076
|
|
NM_022455.5(NSD1):c.549C>T (p.Ile183=)
|
rs758535770
|
|
NM_022455.5(NSD1):c.5502T>C (p.Tyr1834=)
|
|
|
NM_022455.5(NSD1):c.560C>G (p.Thr187Ser)
|
|
|
NM_022455.5(NSD1):c.567C>T (p.Thr189=)
|
rs769162062
|
|
NM_022455.5(NSD1):c.5682T>C (p.Arg1894=)
|
|
|
NM_022455.5(NSD1):c.5769A>C (p.Thr1923=)
|
rs1448380303
|
|
NM_022455.5(NSD1):c.5979C>A (p.Ile1993=)
|
|
|
NM_022455.5(NSD1):c.6075C>T (p.Pro2025=)
|
|
|
NM_022455.5(NSD1):c.6087A>T (p.Thr2029=)
|
|
|
NM_022455.5(NSD1):c.6151+10A>T
|
|
|
NM_022455.5(NSD1):c.6151+18A>T
|
|
|
NM_022455.5(NSD1):c.6259-4G>T
|
rs764710462
|
|
NM_022455.5(NSD1):c.6432A>G (p.Ala2144=)
|
rs757619678
|
|
NM_022455.5(NSD1):c.6464-13T>C
|
|
|
NM_022455.5(NSD1):c.6606T>C (p.Cys2202=)
|
|
|
NM_022455.5(NSD1):c.6674C>A (p.Pro2225Gln)
|
rs755013078
|
|
NM_022455.5(NSD1):c.6681G>A (p.Pro2227=)
|
|
|
NM_022455.5(NSD1):c.672G>A (p.Ser224=)
|
rs1320622588
|
|
NM_022455.5(NSD1):c.6804T>G (p.Ala2268=)
|
|
|
NM_022455.5(NSD1):c.6829T>A (p.Leu2277Met)
|
rs28580074
|
|
NM_022455.5(NSD1):c.6898G>A (p.Ala2300Thr)
|
|
|
NM_022455.5(NSD1):c.7041C>G (p.Ser2347=)
|
|
|
NM_022455.5(NSD1):c.7045C>T (p.Pro2349Ser)
|
|
|
NM_022455.5(NSD1):c.7122A>T (p.Ser2374=)
|
|
|
NM_022455.5(NSD1):c.717G>A (p.Lys239=)
|
|
|
NM_022455.5(NSD1):c.7182T>C (p.Ile2394=)
|
rs1760115755
|
|
NM_022455.5(NSD1):c.7218T>C (p.Pro2406=)
|
|
|
NM_022455.5(NSD1):c.7329C>T (p.Asp2443=)
|
|
|
NM_022455.5(NSD1):c.7356T>C (p.Ala2452=)
|
|
|
NM_022455.5(NSD1):c.7398G>A (p.Lys2466=)
|
rs2127282700
|
|
NM_022455.5(NSD1):c.7401G>A (p.Glu2467=)
|
|
|
NM_022455.5(NSD1):c.7410T>C (p.Ala2470=)
|
|
|
NM_022455.5(NSD1):c.757C>G (p.Leu253Val)
|
|
|
NM_022455.5(NSD1):c.7596A>G (p.Ser2532=)
|
rs2127283671
|
|
NM_022455.5(NSD1):c.7721C>T (p.Pro2574Leu)
|
|
|
NM_022455.5(NSD1):c.7752C>T (p.Val2584=)
|
rs1175003950
|
|
NM_022455.5(NSD1):c.7799T>C (p.Phe2600Ser)
|
|
|
NM_022455.5(NSD1):c.7809C>T (p.Leu2603=)
|
rs769301382
|
|
NM_022455.5(NSD1):c.7810G>A (p.Gly2604Arg)
|
|
|
NM_022455.5(NSD1):c.793A>G (p.Ile265Val)
|
rs771587260
|
|
NM_022455.5(NSD1):c.7942_7980del (p.Ser2648_Gln2660del)
|
rs762472610
|
|
NM_022455.5(NSD1):c.7995T>C (p.Leu2665=)
|
|
|
NM_022455.5(NSD1):c.887C>G (p.Pro296Arg)
|
rs1189702665
|
|
NM_022455.5(NSD1):c.897A>T (p.Ser299=)
|
|
|
NM_022455.5(NSD1):c.91C>G (p.Pro31Ala)
|
rs905320202
|
|
NM_022455.5(NSD1):c.928-8G>C
|
rs1761722744
|
|
NM_022455.5(NSD1):c.951G>A (p.Thr317=)
|
|
|
NM_022455.5(NSD1):c.952C>T (p.Pro318Ser)
|
|
|
NM_024426.6(WT1):c.1002A>T (p.Thr334=)
|
rs1590373446
|
|
NM_024426.6(WT1):c.1011G>A (p.Gln337=)
|
rs1590373398
|
|
NM_024426.6(WT1):c.1016+12A>G
|
rs2133032183
|
|
NM_024426.6(WT1):c.1016+13T>C
|
rs1425896469
|
|
NM_024426.6(WT1):c.1016+14_1016+15delinsAA
|
|
|
NM_024426.6(WT1):c.1016+15C>A
|
|
|
NM_024426.6(WT1):c.1016+16G>A
|
|
|
NM_024426.6(WT1):c.1016+20A>G
|
|
|
NM_024426.6(WT1):c.1016+7G>A
|
|
|
NM_024426.6(WT1):c.1016+8G>A
|
|
|
NM_024426.6(WT1):c.1016+8dup
|
|
|
NM_024426.6(WT1):c.1017-10G>T
|
rs2132959474
|
|
NM_024426.6(WT1):c.1017-11T>C
|
rs1564975924
|
|
NM_024426.6(WT1):c.1017-18C>G
|
|
|
NM_024426.6(WT1):c.1017-19C>A
|
|
|
NM_024426.6(WT1):c.1017-20T>C
|
|
|
NM_024426.6(WT1):c.1017-8G>C
|
|
|
NM_024426.6(WT1):c.1029G>T (p.Gly343=)
|
rs752102247
|
|
NM_024426.6(WT1):c.1032C>T (p.Tyr344=)
|
rs1338914258
|
|
NM_024426.6(WT1):c.1041T>C (p.Asp347=)
|
rs1159089816
|
|
NM_024426.6(WT1):c.1044C>T (p.Asn348=)
|
|
|
NM_024426.6(WT1):c.1053G>C (p.Thr351=)
|
rs1260693060
|
|
NM_024426.6(WT1):c.1056C>T (p.Pro352=)
|
rs2132958298
|
|
NM_024426.6(WT1):c.1068A>G (p.Gly356=)
|
|
|
NM_024426.6(WT1):c.1071C>G (p.Ala357=)
|
|
|
NM_024426.6(WT1):c.1089G>A (p.Thr363=)
|
rs1564975679
|
|
NM_024426.6(WT1):c.1089G>T (p.Thr363=)
|
rs1564975679
|
|
NM_024426.6(WT1):c.108G>A (p.Gln36=)
|
rs2133107241
|
|
NM_024426.6(WT1):c.1092C>T (p.His364=)
|
rs587778756
|
|
NM_024426.6(WT1):c.1113+10C>T
|
|
|
NM_024426.6(WT1):c.1113+13_1113+16del
|
rs781613684
|
|
NM_024426.6(WT1):c.1113+14C>T
|
|
|
NM_024426.6(WT1):c.1113+7A>G
|
|
|
NM_024426.6(WT1):c.1113+8C>T
|
rs2132956703
|
|
NM_024426.6(WT1):c.1113+9A>C
|
|
|
NM_024426.6(WT1):c.1113+9A>G
|
|
|
NM_024426.6(WT1):c.1114-13T>C
|
rs2132942587
|
|
NM_024426.6(WT1):c.1114-14C>T
|
|
|
NM_024426.6(WT1):c.1114-14CT[2]
|
rs994248697
|
|
NM_024426.6(WT1):c.1114-15A>C
|
|
|
NM_024426.6(WT1):c.1114-15A>G
|
rs776971636
|
|
NM_024426.6(WT1):c.1114-4G>A
|
rs2132942410
|
|
NM_024426.6(WT1):c.1114-6C>T
|
rs2132942429
|
|
NM_024426.6(WT1):c.1114-7C>G
|
|
|
NM_024426.6(WT1):c.1119G>A (p.Val373=)
|
rs780497248
|
|
NM_024426.6(WT1):c.111A>G (p.Gly37=)
|
|
|
NM_024426.6(WT1):c.1134A>G (p.Gly378=)
|
rs965752073
|
|
NM_024426.6(WT1):c.1143G>A (p.Pro381=)
|
rs1554939849
|
|
NM_024426.6(WT1):c.1146T>C (p.Thr382=)
|
rs371168589
|
|
NM_024426.6(WT1):c.114C>G (p.Val38=)
|
|
|
NM_024426.6(WT1):c.1152A>G (p.Val384=)
|
rs2132941316
|
|
NM_024426.6(WT1):c.1155G>A (p.Arg385=)
|
rs776651253
|
|
NM_024426.6(WT1):c.1161A>T (p.Ala387=)
|
rs141834493
|
|
NM_024426.6(WT1):c.1164T>C (p.Ser388=)
|
|
|
NM_024426.6(WT1):c.117G>T (p.Arg39=)
|
|
|
NM_024426.6(WT1):c.1182C>G (p.Arg394=)
|
rs147939483
|
|
NM_024426.6(WT1):c.1188C>T (p.Phe396=)
|
rs200539928
|
|
NM_024426.6(WT1):c.1200C>T (p.Tyr400=)
|
rs886048227
|
|
NM_024426.6(WT1):c.1206C>G (p.Gly402=)
|
rs2132940083
|
|
NM_024426.6(WT1):c.1215G>A (p.Lys405=)
|
rs2132939936
|
|
NM_024426.6(WT1):c.1224T>C (p.Phe408=)
|
|
|
NM_024426.6(WT1):c.1227G>A (p.Lys409=)
|
rs1554939791
|
|
NM_024426.6(WT1):c.1230G>A (p.Leu410=)
|
rs1851967232
|
|
NM_024426.6(WT1):c.1233C>A (p.Ser411=)
|
|
|
NM_024426.6(WT1):c.1233C>G (p.Ser411=)
|
|
|
NM_024426.6(WT1):c.123G>A (p.Pro41=)
|
rs555140661
|
|
NM_024426.6(WT1):c.1260C>T (p.His420=)
|
rs1554939784
|
|
NM_024426.6(WT1):c.1264+15T>C
|
|
|
NM_024426.6(WT1):c.1264+16G>C
|
|
|
NM_024426.6(WT1):c.1264+20A>T
|
rs1227250951
|
|
NM_024426.6(WT1):c.1264+9G>A
|
rs2132938978
|
|
NM_024426.6(WT1):c.1265-10C>G
|
|
|
NM_024426.6(WT1):c.1265-12G>C
|
rs2132921730
|
|
NM_024426.6(WT1):c.1265-15T>C
|
rs933629326
|
|
NM_024426.6(WT1):c.1265-16_1265-15del
|
rs1447574915
|
|
NM_024426.6(WT1):c.1265-4C>T
|
rs918343735
|
|
NM_024426.6(WT1):c.1265-6C>T
|
rs1590332639
|
|
NM_024426.6(WT1):c.126C>A (p.Gly42=)
|
|
|
NM_024426.6(WT1):c.126C>T (p.Gly42=)
|
rs1853476071
|
|
NM_024426.6(WT1):c.1275A>G (p.Pro425=)
|
rs2132921460
|
|
NM_024426.6(WT1):c.1287C>T (p.Asp429=)
|
|
|
NM_024426.6(WT1):c.1293G>A (p.Lys431=)
|
|
|
NM_024426.6(WT1):c.1305A>G (p.Arg435=)
|
|
|
NM_024426.6(WT1):c.1306A>C (p.Arg436=)
|
|
|
NM_024426.6(WT1):c.1320A>G (p.Ser440=)
|
|
|
NM_024426.6(WT1):c.1329C>A (p.Leu443=)
|
|
|
NM_024426.6(WT1):c.1332A>G (p.Lys444=)
|
rs1319380075
|
|
NM_024426.6(WT1):c.1341A>G (p.Gln447=)
|
rs772822466
|
|
NM_024426.6(WT1):c.1344G>A (p.Arg448=)
|
rs1236598690
|
|
NM_024426.6(WT1):c.1345A>C (p.Arg449=)
|
rs2132919527
|
|
NM_024426.6(WT1):c.1350T>C (p.His450=)
|
|
|
NM_024426.6(WT1):c.1354+10T>C
|
rs2132919152
|
|
NM_024426.6(WT1):c.1354+12C>T
|
|
|
NM_024426.6(WT1):c.1354+14C>T
|
|
|
NM_024426.6(WT1):c.1354+15T>G
|
rs747790701
|
|
NM_024426.6(WT1):c.1354+19C>T
|
rs2132918999
|
|
NM_024426.6(WT1):c.1354+20A>G
|
|
|
NM_024426.6(WT1):c.1354+9G>A
|
rs765187288
|
|
NM_024426.6(WT1):c.1355-10G>A
|
|
|
NM_024426.6(WT1):c.1355-10G>C
|
rs1590331597
|
|
NM_024426.6(WT1):c.1355-19A>T
|
|
|
NM_024426.6(WT1):c.1355-24_1355-20del
|
|
|
NM_024426.6(WT1):c.1355-6_1355-5del
|
|
|
NM_024426.6(WT1):c.1355-8C>T
|
rs1851834598
|
|
NM_024426.6(WT1):c.1389A>G (p.Arg463=)
|
rs1851833175
|
|
NM_024426.6(WT1):c.1389A>T (p.Arg463=)
|
|
|
NM_024426.6(WT1):c.138C>A (p.Ala46=)
|
rs2133106888
|
|
NM_024426.6(WT1):c.1395C>T (p.Phe465=)
|
rs1430665640
|
|
NM_024426.6(WT1):c.1398C>G (p.Ser466=)
|
rs2132914513
|
|
NM_024426.6(WT1):c.1401G>A (p.Arg467=)
|
rs2132914457
|
|
NM_024426.6(WT1):c.1407C>T (p.Asp469=)
|
|
|
NM_024426.6(WT1):c.1411C>T (p.Leu471=)
|
rs1851831198
|
|
NM_024426.6(WT1):c.1422C>T (p.His474=)
|
rs1554939066
|
|
NM_024426.6(WT1):c.1425C>G (p.Thr475=)
|
rs2132913876
|
|
NM_024426.6(WT1):c.1425C>T (p.Thr475=)
|
|
|
NM_024426.6(WT1):c.1426A>C (p.Arg476=)
|
rs2132913863
|
|
NM_024426.6(WT1):c.1428G>A (p.Arg476=)
|
|
|
NM_024426.6(WT1):c.1447+13T>C
|
rs2132913405
|
|
NM_024426.6(WT1):c.1447+15C>T
|
|
|
NM_024426.6(WT1):c.1447+16_1447+18del
|
rs1235706040
|
|
NM_024426.6(WT1):c.1447+19A>G
|
rs2132913356
|
|
NM_024426.6(WT1):c.1447+7A>G
|
rs2132913455
|
|
NM_024426.6(WT1):c.1448-10G>T
|
rs185744719
|
|
NM_024426.6(WT1):c.1448-13A>G
|
|
|
NM_024426.6(WT1):c.1448-13A>T
|
rs768449767
|
|
NM_024426.6(WT1):c.1448-18T>C
|
|
|
NM_024426.6(WT1):c.1448-18T>G
|
|
|
NM_024426.6(WT1):c.1448-19C>A
|
|
|
NM_024426.6(WT1):c.1448-9T>C
|
rs1590326385
|
|
NM_024426.6(WT1):c.1449T>C (p.Ser483=)
|
rs2132900047
|
|
NM_024426.6(WT1):c.1458C>T (p.Pro486=)
|
|
|
NM_024426.6(WT1):c.1464C>T (p.Ser488=)
|
rs1590326329
|
|
NM_024426.6(WT1):c.1467T>C (p.Cys489=)
|
rs2132899651
|
|
NM_024426.6(WT1):c.1476A>G (p.Pro492=)
|
rs2132899419
|
|
NM_024426.6(WT1):c.1479T>C (p.Ser493=)
|
rs1334930117
|
|
NM_024426.6(WT1):c.147C>A (p.Gly49=)
|
rs2133106795
|
|
NM_024426.6(WT1):c.1500G>C (p.Arg500=)
|
rs2132898861
|
|
NM_024426.6(WT1):c.150C>A (p.Ala50=)
|
rs1554946724
|
|
NM_024426.6(WT1):c.150C>T (p.Ala50=)
|
rs1554946724
|
|
NM_024426.6(WT1):c.1518C>G (p.Arg506=)
|
|
|
NM_024426.6(WT1):c.153C>A (p.Ala51=)
|
|
|
NM_024426.6(WT1):c.153C>T (p.Ala51=)
|
rs1590411186
|
|
NM_024426.6(WT1):c.1551A>G (p.Lys517=)
|
|
|
NM_024426.6(WT1):c.1557G>A (p.Gln519=)
|
rs2132897298
|
|
NM_024426.6(WT1):c.1563G>C (p.Ala521=)
|
|
|
NM_024426.6(WT1):c.1563G>T (p.Ala521=)
|
rs202118284
|
|
NM_024426.6(WT1):c.162C>T (p.Ser54=)
|
|
|
NM_024426.6(WT1):c.174C>G (p.Leu58=)
|
rs886048232
|
|
NM_024426.6(WT1):c.189C>T (p.Ser63=)
|
rs1215127008
|
|
NM_024426.6(WT1):c.198G>A (p.Ala66=)
|
rs955105743
|
|
NM_024426.6(WT1):c.201C>T (p.Ser67=)
|
rs771769393
|
|
NM_024426.6(WT1):c.204G>A (p.Gly68=)
|
rs1554946680
|
|
NM_024426.6(WT1):c.216G>A (p.Gln72=)
|
|
|
NM_024426.6(WT1):c.225C>A (p.Gly75=)
|
rs1590410808
|
|
NM_024426.6(WT1):c.225C>G (p.Gly75=)
|
rs1590410808
|
|
NM_024426.6(WT1):c.225C>T (p.Gly75=)
|
rs1590410808
|
|
NM_024426.6(WT1):c.228C>T (p.Ser76=)
|
rs2133105899
|
|
NM_024426.6(WT1):c.231C>T (p.Asp77=)
|
rs1193574882
|
|
NM_024426.6(WT1):c.237G>A (p.Arg79=)
|
|
|
NM_024426.6(WT1):c.237G>C (p.Arg79=)
|
rs1590410776
|
|
NM_024426.6(WT1):c.241C>T (p.Leu81=)
|
rs777617460
|
|
NM_024426.6(WT1):c.249G>A (p.Ala83=)
|
rs1233220797
|
|
NM_024426.6(WT1):c.249G>T (p.Ala83=)
|
|
|
NM_024426.6(WT1):c.24C>T (p.Asp8=)
|
|
|
NM_024426.6(WT1):c.250C>T (p.Leu84=)
|
rs756055892
|
|
NM_024426.6(WT1):c.258C>A (p.Pro86=)
|
rs1389359790
|
|
NM_024426.6(WT1):c.259G>A (p.Ala87Thr)
|
rs752686863
|
|
NM_024426.6(WT1):c.261C>A (p.Ala87=)
|
|
|
NM_024426.6(WT1):c.261C>G (p.Ala87=)
|
|
|
NM_024426.6(WT1):c.261C>T (p.Ala87=)
|
rs1298313010
|
|
NM_024426.6(WT1):c.267C>T (p.Pro89=)
|
rs1172336462
|
|
NM_024426.6(WT1):c.270C>G (p.Ser90=)
|
|
|
NM_024426.6(WT1):c.270C>T (p.Ser90=)
|
rs766441234
|
|
NM_024426.6(WT1):c.271C>T (p.Leu91=)
|
|
|
NM_024426.6(WT1):c.279C>A (p.Gly93=)
|
rs1590410564
|
|
NM_024426.6(WT1):c.279C>T (p.Gly93=)
|
rs1590410564
|
|
NM_024426.6(WT1):c.282C>T (p.Gly94=)
|
rs1565001990
|
|
NM_024426.6(WT1):c.291T>C (p.Cys97=)
|
rs750588084
|
|
NM_024426.6(WT1):c.294C>T (p.Ala98=)
|
rs887998910
|
|
NM_024426.6(WT1):c.303G>A (p.Val101=)
|
|
|
NM_024426.6(WT1):c.312G>A (p.Ala104=)
|
rs1590410376
|
|
NM_024426.6(WT1):c.312G>T (p.Ala104=)
|
|
|
NM_024426.6(WT1):c.315G>A (p.Ala105=)
|
rs1554946607
|
|
NM_024426.6(WT1):c.315G>T (p.Ala105=)
|
rs1554946607
|
|
NM_024426.6(WT1):c.324G>A (p.Ala108=)
|
rs1229643010
|
|
NM_024426.6(WT1):c.330G>A (p.Val110=)
|
|
|
NM_024426.6(WT1):c.331C>T (p.Leu111=)
|
rs2133104719
|
|
NM_024426.6(WT1):c.336C>T (p.Asp112=)
|
rs2133104640
|
|
NM_024426.6(WT1):c.339T>C (p.Phe113=)
|
rs2133104617
|
|
NM_024426.6(WT1):c.33C>A (p.Ser11=)
|
|
|
NM_024426.6(WT1):c.342G>C (p.Ala114=)
|
rs1414764839
|
|
NM_024426.6(WT1):c.342G>T (p.Ala114=)
|
rs1414764839
|
|
NM_024426.6(WT1):c.348G>C (p.Pro116=)
|
|
|
NM_024426.6(WT1):c.351C>A (p.Gly117=)
|
|
|
NM_024426.6(WT1):c.357G>T (p.Ser119=)
|
|
|
NM_024426.6(WT1):c.363C>T (p.Tyr121=)
|
rs977632626
|
|
NM_024426.6(WT1):c.366G>T (p.Gly122=)
|
|
|
NM_024426.6(WT1):c.369G>A (p.Ser123=)
|
rs1485992444
|
|
NM_024426.6(WT1):c.369G>T (p.Ser123=)
|
rs1485992444
|
|
NM_024426.6(WT1):c.36G>A (p.Thr12=)
|
|
|
NM_024426.6(WT1):c.36G>C (p.Thr12=)
|
|
|
NM_024426.6(WT1):c.370T>C (p.Leu124=)
|
|
|
NM_024426.6(WT1):c.381C>A (p.Pro127=)
|
rs771681406
|
|
NM_024426.6(WT1):c.381C>T (p.Pro127=)
|
rs771681406
|
|
NM_024426.6(WT1):c.384G>A (p.Ala128=)
|
|
|
NM_024426.6(WT1):c.387G>T (p.Pro129=)
|
rs1590410053
|
|
NM_024426.6(WT1):c.390A>G (p.Pro130=)
|
rs886048228
|
|
NM_024426.6(WT1):c.393G>C (p.Pro131=)
|
rs1229890218
|
|
NM_024426.6(WT1):c.393G>T (p.Pro131=)
|
rs1229890218
|
|
NM_024426.6(WT1):c.399G>T (p.Pro133=)
|
rs2133103876
|
|
NM_024426.6(WT1):c.402G>A (p.Pro134=)
|
rs777527675
|
|
NM_024426.6(WT1):c.402G>T (p.Pro134=)
|
|
|
NM_024426.6(WT1):c.408C>A (p.Pro136=)
|
|
|
NM_024426.6(WT1):c.408C>T (p.Pro136=)
|
|
|
NM_024426.6(WT1):c.414G>A (p.Pro138=)
|
|
|
NM_024426.6(WT1):c.417G>T (p.Pro139=)
|
rs758361767
|
|
NM_024426.6(WT1):c.420G>T (p.Pro140=)
|
|
|
NM_024426.6(WT1):c.423T>G (p.Pro141=)
|
|
|
NM_024426.6(WT1):c.429C>T (p.Ser143=)
|
rs531076591
|
|
NM_024426.6(WT1):c.42C>T (p.Val14=)
|
rs1343194102
|
|
NM_024426.6(WT1):c.441G>A (p.Gln147=)
|
|
|
NM_024426.6(WT1):c.447G>A (p.Pro149=)
|
|
|
NM_024426.6(WT1):c.450C>T (p.Ser150=)
|
rs1213710686
|
|
NM_024426.6(WT1):c.456C>A (p.Gly152=)
|
rs2133103187
|
|
NM_024426.6(WT1):c.456C>T (p.Gly152=)
|
rs2133103187
|
|
NM_024426.6(WT1):c.45G>A (p.Pro15=)
|
rs1158182061
|
|
NM_024426.6(WT1):c.462G>A (p.Ala154=)
|
rs2133103125
|
|
NM_024426.6(WT1):c.465G>A (p.Glu155=)
|
rs1590409614
|
|
NM_024426.6(WT1):c.468G>A (p.Pro156=)
|
rs961309280
|
|
NM_024426.6(WT1):c.471C>T (p.His157=)
|
rs753238865
|
|
NM_024426.6(WT1):c.474G>A (p.Glu158=)
|
rs997224171
|
|
NM_024426.6(WT1):c.477G>A (p.Glu159=)
|
rs2133102935
|
|
NM_024426.6(WT1):c.483C>T (p.Cys161=)
|
|
|
NM_024426.6(WT1):c.484C>T (p.Leu162=)
|
|
|
NM_024426.6(WT1):c.489C>T (p.Ser163=)
|
rs908414065
|
|
NM_024426.6(WT1):c.48G>A (p.Glu16=)
|
|
|
NM_024426.6(WT1):c.498T>C (p.Thr166=)
|
rs1554946487
|
|
NM_024426.6(WT1):c.510C>G (p.Ser170=)
|
rs772890986
|
|
NM_024426.6(WT1):c.513C>T (p.Gly171=)
|
|
|
NM_024426.6(WT1):c.51G>A (p.Pro17=)
|
rs1590411695
|
|
NM_024426.6(WT1):c.51G>C (p.Pro17=)
|
rs1590411695
|
|
NM_024426.6(WT1):c.522T>C (p.Thr174=)
|
rs747958111
|
|
NM_024426.6(WT1):c.531C>G (p.Ala177=)
|
rs1354094843
|
|
NM_024426.6(WT1):c.534A>G (p.Gly178=)
|
|
|
NM_024426.6(WT1):c.546C>T (p.Tyr182=)
|
|
|
NM_024426.6(WT1):c.549G>T (p.Gly183=)
|
rs1199167878
|
|
NM_024426.6(WT1):c.555C>T (p.Phe185=)
|
rs1554946465
|
|
NM_024426.6(WT1):c.561T>C (p.Pro187=)
|
rs2133102109
|
|
NM_024426.6(WT1):c.564T>A (p.Pro188=)
|
rs1060504178
|
|
NM_024426.6(WT1):c.567G>A (p.Pro189=)
|
|
|
NM_024426.6(WT1):c.569C>T (p.Pro190Leu)
|
rs757349907
|
|
NM_024426.6(WT1):c.570C>T (p.Pro190=)
|
|
|
NM_024426.6(WT1):c.579G>A (p.Ala193=)
|
rs2133101885
|
|
NM_024426.6(WT1):c.582A>C (p.Ser194=)
|
rs1302907380
|
|
NM_024426.6(WT1):c.582A>T (p.Ser194=)
|
rs1302907380
|
|
NM_024426.6(WT1):c.597G>A (p.Arg199=)
|
rs762418497
|
|
NM_024426.6(WT1):c.612G>A (p.Ala204=)
|
|
|
NM_024426.6(WT1):c.612G>T (p.Ala204=)
|
rs2133101498
|
|
NM_024426.6(WT1):c.618C>T (p.Tyr206=)
|
rs1853434598
|
|
NM_024426.6(WT1):c.624C>T (p.Pro208=)
|
|
|
NM_024426.6(WT1):c.630C>T (p.Cys210=)
|
rs1590408912
|
|
NM_024426.6(WT1):c.633C>G (p.Leu211=)
|
rs576677344
|
|
NM_024426.6(WT1):c.633C>T (p.Leu211=)
|
rs576677344
|
|
NM_024426.6(WT1):c.63C>T (p.His21=)
|
rs2133107593
|
|
NM_024426.6(WT1):c.645C>A (p.Pro215=)
|
|
|
NM_024426.6(WT1):c.645C>G (p.Pro215=)
|
rs749405227
|
|
NM_024426.6(WT1):c.645C>T (p.Pro215=)
|
|
|
NM_024426.6(WT1):c.654C>T (p.Arg218=)
|
|
|
NM_024426.6(WT1):c.661+10C>T
|
rs1853430393
|
|
NM_024426.6(WT1):c.661+11C>A
|
|
|
NM_024426.6(WT1):c.661+11del
|
rs778200475
|
|
NM_024426.6(WT1):c.661+12G>A
|
|
|
NM_024426.6(WT1):c.661+12G>C
|
|
|
NM_024426.6(WT1):c.661+13G>A
|
rs1405273217
|
|
NM_024426.6(WT1):c.661+13G>C
|
rs1405273217
|
|
NM_024426.6(WT1):c.661+14G>A
|
|
|
NM_024426.6(WT1):c.661+15G>T
|
rs1362460137
|
|
NM_024426.6(WT1):c.661+17G>T
|
|
|
NM_024426.6(WT1):c.661+18C>T
|
rs369162648
|
|
NM_024426.6(WT1):c.661+19G>A
|
rs1413587778
|
|
NM_024426.6(WT1):c.661+7A>G
|
rs538357126
|
|
NM_024426.6(WT1):c.661+9G>A
|
rs755336626
|
|
NM_024426.6(WT1):c.661+9G>T
|
rs755336626
|
|
NM_024426.6(WT1):c.661+9del
|
|
|
NM_024426.6(WT1):c.662-10G>T
|
rs1554945255
|
|
NM_024426.6(WT1):c.662-11C>T
|
|
|
NM_024426.6(WT1):c.662-12C>A
|
rs2133076430
|
|
NM_024426.6(WT1):c.662-13G>A
|
|
|
NM_024426.6(WT1):c.662-16T>A
|
|
|
NM_024426.6(WT1):c.662-4G>A
|
rs938242205
|
|
NM_024426.6(WT1):c.662-4G>T
|
rs938242205
|
|
NM_024426.6(WT1):c.662-7C>T
|
|
|
NM_024426.6(WT1):c.666C>T (p.Tyr222=)
|
rs1590396134
|
|
NM_024426.6(WT1):c.66G>T (p.Thr22=)
|
rs1214646426
|
|
NM_024426.6(WT1):c.672G>A (p.Thr224=)
|
rs756695525
|
|
NM_024426.6(WT1):c.672G>T (p.Thr224=)
|
rs756695525
|
|
NM_024426.6(WT1):c.678C>G (p.Thr226=)
|
|
|
NM_024426.6(WT1):c.678C>T (p.Thr226=)
|
|
|
NM_024426.6(WT1):c.690G>A (p.Thr230=)
|
rs1277854204
|
|
NM_024426.6(WT1):c.690G>T (p.Thr230=)
|
|
|
NM_024426.6(WT1):c.693C>T (p.Pro231=)
|
|
|
NM_024426.6(WT1):c.699C>T (p.Tyr233=)
|
rs1349302999
|
|
NM_024426.6(WT1):c.705C>T (p.His235=)
|
|
|
NM_024426.6(WT1):c.708G>A (p.Thr236=)
|
rs768828897
|
|
NM_024426.6(WT1):c.708G>C (p.Thr236=)
|
|
|
NM_024426.6(WT1):c.723G>C (p.Ala241=)
|
|
|
NM_024426.6(WT1):c.726G>T (p.Ala242=)
|
rs1473494675
|
|
NM_024426.6(WT1):c.729G>A (p.Gln243=)
|
|
|
NM_024426.6(WT1):c.738C>T (p.Asn246=)
|
rs2133075363
|
|
NM_024426.6(WT1):c.744A>G (p.Ser248=)
|
rs2133075308
|
|
NM_024426.6(WT1):c.750G>A (p.Lys250=)
|
rs1853143486
|
|
NM_024426.6(WT1):c.756G>A (p.Glu252=)
|
rs1406109697
|
|
NM_024426.6(WT1):c.75C>G (p.Ser25=)
|
rs1417997475
|
|
NM_024426.6(WT1):c.764T>A (p.Met255Lys)
|
rs377573993
|
|
NM_024426.6(WT1):c.771G>A (p.Gln257=)
|
rs1853140764
|
|
NM_024426.6(WT1):c.774G>A (p.Gln258=)
|
|
|
NM_024426.6(WT1):c.777C>A (p.Gly259=)
|
rs1395854761
|
|
NM_024426.6(WT1):c.780G>A (p.Ser260=)
|
rs1403311573
|
|
NM_024426.6(WT1):c.780G>C (p.Ser260=)
|
rs1403311573
|
|
NM_024426.6(WT1):c.783G>A (p.Leu261=)
|
rs2133074898
|
|
NM_024426.6(WT1):c.784+10C>A
|
rs1554945172
|
|
NM_024426.6(WT1):c.784+13A>G
|
rs2133074798
|
|
NM_024426.6(WT1):c.784+15C>G
|
|
|
NM_024426.6(WT1):c.784+15C>T
|
rs1160084869
|
|
NM_024426.6(WT1):c.784+20T>C
|
|
|
NM_024426.6(WT1):c.784+7G>C
|
rs1033235205
|
|
NM_024426.6(WT1):c.784+7G>T
|
rs1033235205
|
|
NM_024426.6(WT1):c.784+7del
|
rs2133074842
|
|
NM_024426.6(WT1):c.785-10C>T
|
rs2133073171
|
|
NM_024426.6(WT1):c.785-14G>C
|
rs375514482
|
|
NM_024426.6(WT1):c.785-14G>T
|
rs375514482
|
|
NM_024426.6(WT1):c.785-15C>T
|
|
|
NM_024426.6(WT1):c.785-17T>G
|
|
|
NM_024426.6(WT1):c.785-19T>A
|
|
|
NM_024426.6(WT1):c.785-20G>A
|
|
|
NM_024426.6(WT1):c.785-6C>T
|
rs2133073137
|
|
NM_024426.6(WT1):c.785-7T>C
|
rs758280375
|
|
NM_024426.6(WT1):c.785-7T>G
|
rs758280375
|
|
NM_024426.6(WT1):c.785-8C>A
|
rs1204125933
|
|
NM_024426.6(WT1):c.786T>C (p.Gly262=)
|
|
|
NM_024426.6(WT1):c.789G>A (p.Glu263=)
|
rs878855087
|
|
NM_024426.6(WT1):c.798C>T (p.Tyr266=)
|
rs2133073037
|
|
NM_024426.6(WT1):c.801G>A (p.Ser267=)
|
|
|
NM_024426.6(WT1):c.804G>A (p.Val268=)
|
rs1060504179
|
|
NM_024426.6(WT1):c.816C>A (p.Val272=)
|
rs536750501
|
|
NM_024426.6(WT1):c.816C>G (p.Val272=)
|
|
|
NM_024426.6(WT1):c.825C>T (p.Cys275=)
|
|
|
NM_024426.6(WT1):c.834C>G (p.Pro278=)
|
rs2133072527
|
|
NM_024426.6(WT1):c.837C>T (p.Thr279=)
|
rs747613465
|
|
NM_024426.6(WT1):c.849C>A (p.Thr283=)
|
rs145425799
|
|
NM_024426.6(WT1):c.849C>G (p.Thr283=)
|
|
|
NM_024426.6(WT1):c.84G>C (p.Gly28=)
|
|
|
NM_024426.6(WT1):c.855C>T (p.Ser285=)
|
rs1320428764
|
|
NM_024426.6(WT1):c.865C>T (p.Leu289=)
|
rs1554945037
|
|
NM_024426.6(WT1):c.867G>A (p.Leu289=)
|
rs1590394212
|
|
NM_024426.6(WT1):c.868C>T (p.Leu290=)
|
|
|
NM_024426.6(WT1):c.876G>A (p.Thr292=)
|
rs1343218741
|
|
NM_024426.6(WT1):c.876G>C (p.Thr292=)
|
rs1343218741
|
|
NM_024426.6(WT1):c.876G>T (p.Thr292=)
|
rs1343218741
|
|
NM_024426.6(WT1):c.879C>T (p.Pro293=)
|
rs1274468551
|
|
NM_024426.6(WT1):c.87C>T (p.Cys29=)
|
rs1554946770
|
|
NM_024426.6(WT1):c.882C>T (p.Tyr294=)
|
rs1554945031
|
|
NM_024426.6(WT1):c.887+11G>A
|
rs1286407878
|
|
NM_024426.6(WT1):c.887+12C>T
|
|
|
NM_024426.6(WT1):c.887+17C>T
|
|
|
NM_024426.6(WT1):c.887+18T>C
|
|
|
NM_024426.6(WT1):c.887+20T>C
|
|
|
NM_024426.6(WT1):c.887+6_887+8dup
|
|
|
NM_024426.6(WT1):c.887+9G>A
|
|
|
NM_024426.6(WT1):c.888-13G>T
|
|
|
NM_024426.6(WT1):c.888-16G>A
|
|
|
NM_024426.6(WT1):c.888-20T>A
|
rs2133037949
|
|
NM_024426.6(WT1):c.888-5A>C
|
rs751693310
|
|
NM_024426.6(WT1):c.888-6T>C
|
|
|
NM_024426.6(WT1):c.888-8T>C
|
|
|
NM_024426.6(WT1):c.888-9T>C
|
rs1852720933
|
|
NM_024426.6(WT1):c.900C>T (p.Tyr300=)
|
rs190440703
|
|
NM_024426.6(WT1):c.903A>G (p.Gln301=)
|
|
|
NM_024426.6(WT1):c.909A>G (p.Thr303=)
|
rs2133037516
|
|
NM_024426.6(WT1):c.912C>A (p.Ser304=)
|
|
|
NM_024426.6(WT1):c.912C>T (p.Ser304=)
|
|
|
NM_024426.6(WT1):c.930C>G (p.Thr310=)
|
|
|
NM_024426.6(WT1):c.930C>T (p.Thr310=)
|
rs1268419525
|
|
NM_024426.6(WT1):c.939G>A (p.Gln313=)
|
|
|
NM_024426.6(WT1):c.951A>C (p.Gly317=)
|
rs2133036838
|
|
NM_024426.6(WT1):c.965+13C>T
|
rs1159065961
|
|
NM_024426.6(WT1):c.965+20A>C
|
|
|
NM_024426.6(WT1):c.965+20A>G
|
|
|
NM_024426.6(WT1):c.965+7T>C
|
rs1590375400
|
|
NM_024426.6(WT1):c.965+7T>G
|
rs1590375400
|
|
NM_024426.6(WT1):c.966-12C>A
|
rs2133032805
|
|
NM_024426.6(WT1):c.966-15CTT[2]
|
rs1316773733
|
|
NM_024426.6(WT1):c.966-4C>G
|
rs1590373580
|
|
NM_024426.6(WT1):c.966-4del
|
rs1438888966
|
|
NM_024426.6(WT1):c.966-8T>C
|
rs1273567991
|
|
NM_024426.6(WT1):c.978G>A (p.Gly326=)
|
rs2133032654
|
|
NM_024426.6(WT1):c.981C>T (p.Ser327=)
|
|
|
NM_024426.6(WT1):c.987C>T (p.Ser329=)
|
|
|
NM_024426.6(WT1):c.99A>G (p.Pro33=)
|
rs2133107306
|
|
NM_080647.1(TBX1):c.15C>T (p.Thr5=)
|
rs764497467
|
|
NM_080647.1(TBX1):c.34+12G>A
|
|
|
NM_080647.1(TBX1):c.34+17T>A
|
|
|
NM_080647.1(TBX1):c.34+18G>C
|
|
|