NM_005120.3(MED12):c.4415+29T>C
|
rs10521349
|
0.23097
|
NM_005120.3(MED12):c.736-8A>C
|
rs62609586
|
0.22423
|
NM_005120.3(MED12):c.3930A>C (p.Pro1310=)
|
rs5030619
|
0.21992
|
NM_005120.3(MED12):c.205-38C>T
|
rs12850852
|
0.21650
|
NM_005120.3(MED12):c.3354+27G>C
|
rs5030617
|
0.15058
|
NM_005120.3(MED12):c.2422+30C>T
|
rs2075790
|
0.12776
|
NM_012330.4(KAT6B):c.929-12A>G
|
rs190502446
|
0.00570
|
NM_012330.4(KAT6B):c.4407G>A (p.Ser1469=)
|
rs114126792
|
0.00389
|
NM_012330.4(KAT6B):c.375C>T (p.Ser125=)
|
rs41314998
|
0.00269
|
NM_005120.3(MED12):c.384A>G (p.Gln128=)
|
rs201566660
|
0.00225
|
NM_012330.4(KAT6B):c.1663G>A (p.Gly555Arg)
|
rs146395020
|
0.00107
|
NM_012330.4(KAT6B):c.2374-10T>C
|
rs376833457
|
0.00035
|
NM_012330.4(KAT6B):c.4080A>G (p.Glu1360=)
|
rs546432678
|
0.00030
|
NM_012330.4(KAT6B):c.6162C>T (p.His2054=)
|
rs192237531
|
0.00030
|
NM_012330.4(KAT6B):c.4434C>T (p.Gly1478=)
|
rs148364222
|
0.00029
|
NM_012330.4(KAT6B):c.5355C>T (p.Pro1785=)
|
rs138711901
|
0.00024
|
NM_012330.4(KAT6B):c.6048G>A (p.Thr2016=)
|
rs116978399
|
0.00024
|
NM_005120.3(MED12):c.3942T>C (p.Ser1314=)
|
rs3810670
|
0.00023
|
NM_012330.4(KAT6B):c.4611C>T (p.Ile1537=)
|
rs371945178
|
0.00022
|
NM_012330.4(KAT6B):c.3962A>T (p.Gln1321Leu)
|
rs138030591
|
0.00021
|
NM_012330.4(KAT6B):c.4211G>A (p.Arg1404His)
|
rs563033366
|
0.00021
|
NM_012330.4(KAT6B):c.5679G>A (p.Pro1893=)
|
rs370977553
|
0.00021
|
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser)
|
rs587778437
|
0.00018
|
NM_012330.4(KAT6B):c.3028C>T (p.Arg1010Trp)
|
rs142309185
|
0.00016
|
NM_012330.4(KAT6B):c.5922G>A (p.Ala1974=)
|
rs780751688
|
0.00016
|
NM_012330.4(KAT6B):c.1994-20C>T
|
rs373239366
|
0.00015
|
NM_012330.4(KAT6B):c.307C>T (p.Arg103Cys)
|
rs374549966
|
0.00015
|
NM_012330.4(KAT6B):c.4659C>T (p.Ser1553=)
|
rs147158118
|
0.00014
|
NM_005120.3(MED12):c.5805C>T (p.Ser1935=)
|
rs201608537
|
0.00013
|
NM_012330.4(KAT6B):c.2272A>G (p.Met758Val)
|
rs766894762
|
0.00012
|
NM_012330.4(KAT6B):c.1282A>C (p.Asn428His)
|
rs368259149
|
0.00010
|
NM_012330.4(KAT6B):c.3337T>C (p.Leu1113=)
|
rs751986009
|
0.00010
|
NM_012330.4(KAT6B):c.3410G>A (p.Arg1137His)
|
rs143090869
|
0.00010
|
NM_012330.4(KAT6B):c.3729G>C (p.Lys1243Asn)
|
rs550048327
|
0.00010
|
NM_012330.4(KAT6B):c.4036G>T (p.Asp1346Tyr)
|
rs542036896
|
0.00010
|
NM_012330.4(KAT6B):c.699A>G (p.Glu233=)
|
rs188787788
|
0.00010
|
NM_005120.3(MED12):c.1849A>G (p.Thr617Ala)
|
rs765417606
|
0.00009
|
NM_012330.4(KAT6B):c.5368G>A (p.Ala1790Thr)
|
rs766117254
|
0.00009
|
NM_012330.4(KAT6B):c.5433G>A (p.Pro1811=)
|
rs201084874
|
0.00009
|
NM_012330.4(KAT6B):c.4077G>A (p.Glu1359=)
|
rs560274634
|
0.00008
|
NM_005120.3(MED12):c.6097A>G (p.Met2033Val)
|
rs372606012
|
0.00007
|
NM_012330.4(KAT6B):c.147A>G (p.Glu49=)
|
rs1041827351
|
0.00007
|
NM_012330.4(KAT6B):c.1927A>T (p.Met643Leu)
|
rs778899637
|
0.00007
|
NM_012330.4(KAT6B):c.4478C>T (p.Ala1493Val)
|
rs369068910
|
0.00007
|
NM_012330.4(KAT6B):c.4807G>A (p.Val1603Ile)
|
rs142688976
|
0.00007
|
NM_012330.4(KAT6B):c.1714C>T (p.Arg572Cys)
|
rs766989154
|
0.00006
|
NM_012330.4(KAT6B):c.3477C>G (p.Pro1159=)
|
rs145574734
|
0.00006
|
NM_012330.4(KAT6B):c.4118A>G (p.Glu1373Gly)
|
rs373140884
|
0.00006
|
NM_012330.4(KAT6B):c.6187A>C (p.Lys2063Gln)
|
rs773473193
|
0.00006
|
NM_012330.4(KAT6B):c.846+16G>A
|
rs374506959
|
0.00006
|
NM_012330.4(KAT6B):c.282G>A (p.Gly94=)
|
rs569038847
|
0.00005
|
NM_012330.4(KAT6B):c.3801C>T (p.Thr1267=)
|
rs375206291
|
0.00005
|
NM_012330.4(KAT6B):c.4831G>A (p.Val1611Ile)
|
rs146494314
|
0.00005
|
NM_012330.4(KAT6B):c.4878C>T (p.Tyr1626=)
|
rs146568876
|
0.00005
|
NM_012330.4(KAT6B):c.519G>A (p.Arg173=)
|
rs374557982
|
0.00005
|
NM_012330.4(KAT6B):c.5434T>C (p.Ser1812Pro)
|
rs200728982
|
0.00005
|
NM_005120.3(MED12):c.1974+15C>T
|
rs186876895
|
0.00004
|
NM_012330.4(KAT6B):c.4523C>A (p.Pro1508Gln)
|
rs1014954135
|
0.00004
|
NM_012330.4(KAT6B):c.6153C>T (p.Pro2051=)
|
rs544887456
|
0.00004
|
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp)
|
rs368913305
|
0.00003
|
NM_005120.3(MED12):c.5873G>C (p.Gly1958Ala)
|
rs762846340
|
0.00003
|
NM_012330.4(KAT6B):c.1439C>T (p.Ala480Val)
|
rs749428929
|
0.00003
|
NM_012330.4(KAT6B):c.2153G>A (p.Arg718Gln)
|
rs754128910
|
0.00003
|
NM_012330.4(KAT6B):c.2324A>T (p.His775Leu)
|
rs752359931
|
0.00003
|
NM_012330.4(KAT6B):c.3216A>G (p.Glu1072=)
|
rs776709807
|
0.00003
|
NM_012330.4(KAT6B):c.3358G>T (p.Ala1120Ser)
|
rs777180869
|
0.00003
|
NM_012330.4(KAT6B):c.3737A>G (p.Gln1246Arg)
|
rs1362318886
|
0.00003
|
NM_012330.4(KAT6B):c.3994C>T (p.Pro1332Ser)
|
rs764565963
|
0.00003
|
NM_012330.4(KAT6B):c.4384C>A (p.Leu1462Ile)
|
rs374530664
|
0.00003
|
NM_012330.4(KAT6B):c.4834C>T (p.Arg1612Cys)
|
rs140992439
|
0.00003
|
NM_012330.4(KAT6B):c.4879G>A (p.Ala1627Thr)
|
rs199792793
|
0.00003
|
NM_012330.4(KAT6B):c.5863C>G (p.Pro1955Ala)
|
rs762788479
|
0.00003
|
NM_012330.4(KAT6B):c.836G>A (p.Gly279Asp)
|
rs370398832
|
0.00003
|
NM_005120.3(MED12):c.439G>A (p.Ala147Thr)
|
rs748453083
|
0.00002
|
NM_005120.3(MED12):c.6076A>G (p.Met2026Val)
|
rs1294140756
|
0.00002
|
NM_005120.3(MED12):c.6267+166G>A
|
rs1247198443
|
0.00002
|
NM_012330.4(KAT6B):c.1539C>T (p.Ala513=)
|
rs774605212
|
0.00002
|
NM_012330.4(KAT6B):c.1708C>T (p.Arg570Cys)
|
rs751283321
|
0.00002
|
NM_012330.4(KAT6B):c.1754C>T (p.Ala585Val)
|
rs780418110
|
0.00002
|
NM_012330.4(KAT6B):c.2845G>A (p.Asp949Asn)
|
rs903839861
|
0.00002
|
NM_012330.4(KAT6B):c.3122C>T (p.Ser1041Leu)
|
rs377321963
|
0.00002
|
NM_012330.4(KAT6B):c.3155G>C (p.Arg1052Pro)
|
rs368055515
|
0.00002
|
NM_012330.4(KAT6B):c.5327C>A (p.Thr1776Asn)
|
rs747908108
|
0.00002
|
NM_012330.4(KAT6B):c.5602G>A (p.Val1868Ile)
|
rs199806711
|
0.00002
|
NM_012330.4(KAT6B):c.5693G>A (p.Arg1898Gln)
|
rs749834266
|
0.00002
|
NM_012330.4(KAT6B):c.86A>T (p.Glu29Val)
|
rs1167009272
|
0.00002
|
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly)
|
rs752300879
|
0.00001
|
NM_005120.3(MED12):c.1376C>T (p.Thr459Ile)
|
rs2092292878
|
0.00001
|
NM_005120.3(MED12):c.2849+14C>T
|
rs398124196
|
0.00001
|
NM_005120.3(MED12):c.3210-27C>T
|
rs752463122
|
0.00001
|
NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln)
|
rs746705248
|
0.00001
|
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val)
|
rs1366165823
|
0.00001
|
NM_012330.4(KAT6B):c.1189A>C (p.Ser397Arg)
|
rs1842093971
|
0.00001
|
NM_012330.4(KAT6B):c.1213A>C (p.Thr405Pro)
|
rs755528779
|
0.00001
|
NM_012330.4(KAT6B):c.160A>G (p.Ser54Gly)
|
rs1248551392
|
0.00001
|
NM_012330.4(KAT6B):c.1662G>A (p.Gln554=)
|
rs1315521603
|
0.00001
|
NM_012330.4(KAT6B):c.1667A>T (p.Gln556Leu)
|
rs965354059
|
0.00001
|
NM_012330.4(KAT6B):c.1685A>G (p.His562Arg)
|
rs1019373559
|
0.00001
|
NM_012330.4(KAT6B):c.1717C>T (p.Arg573Cys)
|
rs756038238
|
0.00001
|
NM_012330.4(KAT6B):c.1865G>A (p.Arg622Gln)
|
rs773318837
|
0.00001
|
NM_012330.4(KAT6B):c.2099A>G (p.Gln700Arg)
|
rs371018598
|
0.00001
|
NM_012330.4(KAT6B):c.2115+13T>A
|
rs375539342
|
0.00001
|
NM_012330.4(KAT6B):c.2116-9A>G
|
rs747646395
|
0.00001
|
NM_012330.4(KAT6B):c.2348G>A (p.Arg783Gln)
|
rs1405330923
|
0.00001
|
NM_012330.4(KAT6B):c.2374-3T>C
|
rs918213648
|
0.00001
|
NM_012330.4(KAT6B):c.2405A>G (p.Gln802Arg)
|
rs778305732
|
0.00001
|
NM_012330.4(KAT6B):c.2557T>C (p.Tyr853His)
|
rs1350442176
|
0.00001
|
NM_012330.4(KAT6B):c.2695C>T (p.Arg899Cys)
|
rs559399976
|
0.00001
|
NM_012330.4(KAT6B):c.2696G>A (p.Arg899His)
|
rs761702778
|
0.00001
|
NM_012330.4(KAT6B):c.2879G>A (p.Arg960Gln)
|
rs753695521
|
0.00001
|
NM_012330.4(KAT6B):c.2991G>A (p.Val997=)
|
rs1421489322
|
0.00001
|
NM_012330.4(KAT6B):c.3117A>G (p.Val1039=)
|
rs779092722
|
0.00001
|
NM_012330.4(KAT6B):c.3226G>A (p.Glu1076Lys)
|
rs750930283
|
0.00001
|
NM_012330.4(KAT6B):c.3334A>G (p.Arg1112Gly)
|
rs763583481
|
0.00001
|
NM_012330.4(KAT6B):c.365A>G (p.Asn122Ser)
|
rs1287506606
|
0.00001
|
NM_012330.4(KAT6B):c.3718G>A (p.Glu1240Lys)
|
rs140989004
|
0.00001
|
NM_012330.4(KAT6B):c.385A>G (p.Ile129Val)
|
rs778694892
|
0.00001
|
NM_012330.4(KAT6B):c.4046A>G (p.Lys1349Arg)
|
rs377300582
|
0.00001
|
NM_012330.4(KAT6B):c.425C>T (p.Thr142Ile)
|
rs1054836015
|
0.00001
|
NM_012330.4(KAT6B):c.4570G>A (p.Asp1524Asn)
|
rs545973592
|
0.00001
|
NM_012330.4(KAT6B):c.4669G>A (p.Asp1557Asn)
|
rs772986982
|
0.00001
|
NM_012330.4(KAT6B):c.4729C>T (p.Arg1577Cys)
|
rs754132525
|
0.00001
|
NM_012330.4(KAT6B):c.4765G>A (p.Asp1589Asn)
|
rs747832667
|
0.00001
|
NM_012330.4(KAT6B):c.510G>A (p.Pro170=)
|
rs750020725
|
0.00001
|
NM_012330.4(KAT6B):c.5112C>T (p.Cys1704=)
|
rs767983250
|
0.00001
|
NM_012330.4(KAT6B):c.5242G>A (p.Val1748Ile)
|
rs774598396
|
0.00001
|
NM_012330.4(KAT6B):c.5335A>G (p.Met1779Val)
|
rs772132735
|
0.00001
|
NM_012330.4(KAT6B):c.5675C>T (p.Pro1892Leu)
|
rs1037774698
|
0.00001
|
NM_012330.4(KAT6B):c.5933A>G (p.Asn1978Ser)
|
rs747675518
|
0.00001
|
NM_012330.4(KAT6B):c.6014G>A (p.Gly2005Asp)
|
rs141200092
|
0.00001
|
NM_012330.4(KAT6B):c.622-7G>A
|
rs751195432
|
0.00001
|
NM_012330.4(KAT6B):c.679C>T (p.Arg227Cys)
|
rs749252195
|
0.00001
|
NM_012330.4(KAT6B):c.802G>A (p.Glu268Lys)
|
rs1427379278
|
0.00001
|
NM_005120.3(MED12):c.1102-6T>C
|
rs2519669678
|
|
NM_005120.3(MED12):c.1248+3A>G
|
rs2147782173
|
|
NM_005120.3(MED12):c.1547G>A (p.Arg516His)
|
rs1556334969
|
|
NM_005120.3(MED12):c.1996A>G (p.Met666Val)
|
rs1401003961
|
|
NM_005120.3(MED12):c.2023C>T (p.Leu675Phe)
|
rs1307587368
|
|
NM_005120.3(MED12):c.2545T>C (p.Ser849Pro)
|
rs1135401775
|
|
NM_005120.3(MED12):c.2669T>A (p.Ile890Asn)
|
rs2147796647
|
|
NM_005120.3(MED12):c.272G>T (p.Arg91Leu)
|
rs1057524478
|
|
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)
|
rs80338758
|
|
NM_005120.3(MED12):c.3129del (p.Ser1044fs)
|
|
|
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp)
|
rs1057523906
|
|
NM_005120.3(MED12):c.3443G>A (p.Arg1148His)
|
rs387907360
|
|
NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro)
|
rs387907361
|
|
NM_005120.3(MED12):c.3646G>A (p.Val1216Met)
|
rs2147805923
|
|
NM_005120.3(MED12):c.3760G>A (p.Gly1254Arg)
|
rs1459632977
|
|
NM_005120.3(MED12):c.3946C>G (p.Gln1316Glu)
|
rs2092313149
|
|
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr)
|
rs863223696
|
|
NM_005120.3(MED12):c.4413G>A (p.Lys1471=)
|
rs2092320033
|
|
NM_005120.3(MED12):c.4831C>T (p.Arg1611Cys)
|
rs727503868
|
|
NM_005120.3(MED12):c.5017AAG[1] (p.Lys1674del)
|
rs2519708968
|
|
NM_005120.3(MED12):c.5165G>A (p.Arg1722Gln)
|
rs2147826230
|
|
NM_005120.3(MED12):c.5185C>A (p.His1729Asn)
|
rs387907362
|
|
NM_005120.3(MED12):c.5310C>A (p.Asp1770Glu)
|
rs768875937
|
|
NM_005120.3(MED12):c.5578C>T (p.Pro1860Ser)
|
rs2092334822
|
|
NM_005120.3(MED12):c.6017A>G (p.Tyr2006Cys)
|
rs769232520
|
|
NM_005120.3(MED12):c.6062_6094del (p.Leu2021_Thr2031del)
|
|
|
NM_005120.3(MED12):c.616C>G (p.Arg206Gly)
|
rs1556334331
|
|
NM_005120.3(MED12):c.616C>T (p.Arg206Trp)
|
rs1556334331
|
|
NM_005120.3(MED12):c.6177_6191del (p.Gln2072_Gln2076del)
|
rs767827315
|
|
NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del)
|
rs757160341
|
|
NM_005120.3(MED12):c.628G>C (p.Ala210Pro)
|
rs1379201163
|
|
NM_005120.3(MED12):c.6352C>T (p.Gln2118Ter)
|
|
|
NM_005120.3(MED12):c.6397_6408delTCCCAGCCCCAG (p.Ser2133_Gln2136del)
|
rs2092347427
|
|
NM_005120.3(MED12):c.6407A>G (p.Gln2136Arg)
|
rs2092347481
|
|
NM_005120.3(MED12):c.6439C>T (p.Gln2147Ter)
|
|
|
NM_005120.3(MED12):c.6448C>T (p.Gln2150Ter)
|
rs2147844887
|
|
NM_005120.3(MED12):c.6472C>A (p.Leu2158Ile)
|
rs2147844978
|
|
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro)
|
rs1085307941
|
|
NM_005120.3(MED12):c.823C>G (p.Leu275Val)
|
rs2147778826
|
|
NM_005120.3(MED12):c.887G>A (p.Arg296Gln)
|
rs1556334519
|
|
NM_012330.4(KAT6B):c.101A>G (p.His34Arg)
|
|
|
NM_012330.4(KAT6B):c.1025T>A (p.Ile342Asn)
|
rs182392778
|
|
NM_012330.4(KAT6B):c.1030C>T (p.Arg344Ter)
|
rs1049569566
|
|
NM_012330.4(KAT6B):c.1040dup (p.Asn347fs)
|
|
|
NM_012330.4(KAT6B):c.1114C>T (p.Pro372Ser)
|
|
|
NM_012330.4(KAT6B):c.1168G>C (p.Ala390Pro)
|
|
|
NM_012330.4(KAT6B):c.1196T>C (p.Leu399Ser)
|
|
|
NM_012330.4(KAT6B):c.1210C>T (p.Pro404Ser)
|
rs2548951794
|
|
NM_012330.4(KAT6B):c.1214C>G (p.Thr405Ser)
|
|
|
NM_012330.4(KAT6B):c.1278_1283del (p.Lys426_Val427del)
|
rs760375622
|
|
NM_012330.4(KAT6B):c.130A>T (p.Lys44Ter)
|
rs2548333540
|
|
NM_012330.4(KAT6B):c.1341T>G (p.Asp447Glu)
|
|
|
NM_012330.4(KAT6B):c.1351T>A (p.Ser451Thr)
|
|
|
NM_012330.4(KAT6B):c.1400A>C (p.Lys467Thr)
|
rs2133723621
|
|
NM_012330.4(KAT6B):c.14C>G (p.Ala5Gly)
|
|
|
NM_012330.4(KAT6B):c.1512C>G (p.Ser504Arg)
|
|
|
NM_012330.4(KAT6B):c.1543TCT[1] (p.Ser516del)
|
rs752989133
|
|
NM_012330.4(KAT6B):c.1619T>C (p.Leu540Pro)
|
|
|
NM_012330.4(KAT6B):c.1673G>C (p.Arg558Pro)
|
|
|
NM_012330.4(KAT6B):c.1675A>T (p.Lys559Ter)
|
rs182593735
|
|
NM_012330.4(KAT6B):c.1739C>T (p.Thr580Met)
|
|
|
NM_012330.4(KAT6B):c.1782A>G (p.Arg594=)
|
rs376823181
|
|
NM_012330.4(KAT6B):c.1993+1G>A
|
rs2133733164
|
|
NM_012330.4(KAT6B):c.1993+5G>A
|
|
|
NM_012330.4(KAT6B):c.1A>G (p.Met1Val)
|
rs2548332680
|
|
NM_012330.4(KAT6B):c.2038A>T (p.Asn680Tyr)
|
|
|
NM_012330.4(KAT6B):c.2066C>T (p.Thr689Ile)
|
|
|
NM_012330.4(KAT6B):c.2154del (p.Tyr719fs)
|
rs2548975716
|
|
NM_012330.4(KAT6B):c.2186A>G (p.Glu729Gly)
|
rs1842361320
|
|
NM_012330.4(KAT6B):c.2209C>T (p.Pro737Ser)
|
|
|
NM_012330.4(KAT6B):c.223G>C (p.Asp75His)
|
|
|
NM_012330.4(KAT6B):c.2282A>G (p.Lys761Arg)
|
rs1842534871
|
|
NM_012330.4(KAT6B):c.2299C>T (p.His767Tyr)
|
rs1589750251
|
|
NM_012330.4(KAT6B):c.2347C>T (p.Arg783Ter)
|
rs2548990073
|
|
NM_012330.4(KAT6B):c.2373+6C>A
|
rs192506542
|
|
NM_012330.4(KAT6B):c.2373+6C>T
|
rs192506542
|
|
NM_012330.4(KAT6B):c.2377G>A (p.Asp793Asn)
|
|
|
NM_012330.4(KAT6B):c.246A>G (p.Ser82=)
|
|
|
NM_012330.4(KAT6B):c.2510del (p.Cys837fs)
|
rs1842737894
|
|
NM_012330.4(KAT6B):c.2515C>G (p.Leu839Val)
|
|
|
NM_012330.4(KAT6B):c.2528T>A (p.Phe843Tyr)
|
|
|
NM_012330.4(KAT6B):c.2590C>T (p.His864Tyr)
|
|
|
NM_012330.4(KAT6B):c.2598G>A (p.Arg866=)
|
rs1842975561
|
|
NM_012330.4(KAT6B):c.2623del (p.Asp875fs)
|
|
|
NM_012330.4(KAT6B):c.2707C>G (p.Leu903Val)
|
|
|
NM_012330.4(KAT6B):c.2752_2754del (p.His918del)
|
|
|
NM_012330.4(KAT6B):c.2753A>T (p.His918Leu)
|
|
|
NM_012330.4(KAT6B):c.2779A>G (p.Ile927Val)
|
|
|
NM_012330.4(KAT6B):c.2790G>T (p.Ala930=)
|
rs765834987
|
|
NM_012330.4(KAT6B):c.2808T>G (p.His936Gln)
|
|
|
NM_012330.4(KAT6B):c.2812A>G (p.Ile938Val)
|
|
|
NM_012330.4(KAT6B):c.2839A>G (p.Met947Val)
|
rs1845340492
|
|
NM_012330.4(KAT6B):c.2842A>T (p.Ile948Phe)
|
|
|
NM_012330.4(KAT6B):c.2869A>C (p.Ile957Leu)
|
|
|
NM_012330.4(KAT6B):c.2904G>A (p.Met968Ile)
|
|
|
NM_012330.4(KAT6B):c.2963C>A (p.Thr988Asn)
|
rs1845383523
|
|
NM_012330.4(KAT6B):c.299A>G (p.Asn100Ser)
|
rs2548334531
|
|
NM_012330.4(KAT6B):c.3018del (p.Glu1007fs)
|
rs199470468
|
|
NM_012330.4(KAT6B):c.3022-1G>A
|
rs1845433207
|
|
NM_012330.4(KAT6B):c.3022-5C>G
|
rs2134165271
|
|
NM_012330.4(KAT6B):c.3040C>T (p.Gln1014Ter)
|
rs2134165472
|
|
NM_012330.4(KAT6B):c.3041_3042del (p.Gln1014fs)
|
rs1589824355
|
|
NM_012330.4(KAT6B):c.304C>A (p.Leu102Ile)
|
rs1206614644
|
|
NM_012330.4(KAT6B):c.3050G>T (p.Cys1017Phe)
|
|
|
NM_012330.4(KAT6B):c.310A>T (p.Asn104Tyr)
|
rs1841861253
|
|
NM_012330.4(KAT6B):c.3147G>A (p.Pro1049=)
|
rs886041207
|
|
NM_012330.4(KAT6B):c.3155G>A (p.Arg1052Gln)
|
|
|
NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter)
|
rs1554843815
|
|
NM_012330.4(KAT6B):c.3210AGA[2] (p.Glu1076del)
|
rs765976563
|
|
NM_012330.4(KAT6B):c.3216del (p.Glu1073fs)
|
rs1554843829
|
|
NM_012330.4(KAT6B):c.3217G>T (p.Glu1073Ter)
|
rs761860621
|
|
NM_012330.4(KAT6B):c.3223G>T (p.Glu1075Ter)
|
rs2549169772
|
|
NM_012330.4(KAT6B):c.3227A>T (p.Glu1076Val)
|
rs2549169829
|
|
NM_012330.4(KAT6B):c.3231_3242del (p.Asp1077_Glu1080del)
|
rs569172957
|
|
NM_012330.4(KAT6B):c.3246del (p.Glu1083fs)
|
rs2549170103
|
|
NM_012330.4(KAT6B):c.3249_3257del (p.Glu1087_Glu1089del)
|
rs780405690
|
|
NM_012330.4(KAT6B):c.3253del (p.Glu1085fs)
|
rs1554843880
|
|
NM_012330.4(KAT6B):c.3256G>T (p.Glu1086Ter)
|
rs751215527
|
|
NM_012330.4(KAT6B):c.3258_3266del (p.Glu1087_Glu1089del)
|
rs754801098
|
|
NM_012330.4(KAT6B):c.3289GAA[10] (p.Glu1103_Glu1104dup)
|
rs71929101
|
|
NM_012330.4(KAT6B):c.3289GAA[6] (p.Glu1103_Glu1104del)
|
rs71929101
|
|
NM_012330.4(KAT6B):c.3295_3301del (p.Glu1099fs)
|
|
|
NM_012330.4(KAT6B):c.3341C>T (p.Thr1114Met)
|
rs755451488
|
|
NM_012330.4(KAT6B):c.3349_3350del (p.Gln1117fs)
|
rs2549171488
|
|
NM_012330.4(KAT6B):c.3372+2T>A
|
|
|
NM_012330.4(KAT6B):c.3409C>T (p.Arg1137Cys)
|
|
|
NM_012330.4(KAT6B):c.3418A>T (p.Ile1140Phe)
|
|
|
NM_012330.4(KAT6B):c.3477_3480dup (p.Asp1161delinsLeuTer)
|
rs1589831585
|
|
NM_012330.4(KAT6B):c.3485A>G (p.Asn1162Ser)
|
|
|
NM_012330.4(KAT6B):c.350G>T (p.Gly117Val)
|
|
|
NM_012330.4(KAT6B):c.3518A>G (p.Glu1173Gly)
|
rs761285524
|
|
NM_012330.4(KAT6B):c.3574G>C (p.Ala1192Pro)
|
|
|
NM_012330.4(KAT6B):c.3604C>G (p.Gln1202Glu)
|
|
|
NM_012330.4(KAT6B):c.3606_3609del (p.Thr1203fs)
|
rs1589832003
|
|
NM_012330.4(KAT6B):c.3629A>T (p.Asp1210Val)
|
|
|
NM_012330.4(KAT6B):c.3653A>C (p.Asp1218Ala)
|
|
|
NM_012330.4(KAT6B):c.3654C>A (p.Asp1218Glu)
|
|
|
NM_012330.4(KAT6B):c.3664+1G>A
|
rs1057516033
|
|
NM_012330.4(KAT6B):c.3664delA (p.Asn1222fs)
|
|
|
NM_012330.4(KAT6B):c.3668A>G (p.Asn1223Ser)
|
rs2549196597
|
|
NM_012330.4(KAT6B):c.3717C>G (p.Pro1239=)
|
rs147746065
|
|
NM_012330.4(KAT6B):c.3722C>G (p.Pro1241Arg)
|
|
|
NM_012330.4(KAT6B):c.3763G>A (p.Gly1255Ser)
|
rs147574112
|
|
NM_012330.4(KAT6B):c.3775T>G (p.Trp1259Gly)
|
|
|
NM_012330.4(KAT6B):c.3887C>A (p.Ser1296Ter)
|
|
|
NM_012330.4(KAT6B):c.388G>A (p.Glu130Lys)
|
rs2132074046
|
|
NM_012330.4(KAT6B):c.390G>T (p.Glu130Asp)
|
rs771449717
|
|
NM_012330.4(KAT6B):c.3949G>A (p.Ala1317Thr)
|
|
|
NM_012330.4(KAT6B):c.3962A>C (p.Gln1321Pro)
|
|
|
NM_012330.4(KAT6B):c.3962_3963del (p.Gln1321fs)
|
rs863224883
|
|
NM_012330.4(KAT6B):c.3998dup (p.Ser1334fs)
|
rs2549198858
|
|
NM_012330.4(KAT6B):c.4052A>G (p.Glu1351Gly)
|
|
|
NM_012330.4(KAT6B):c.4062_4064del (p.Glu1368del)
|
rs772530975
|
|
NM_012330.4(KAT6B):c.4065GGA[3] (p.Glu1367_Glu1368del)
|
rs367634881
|
|
NM_012330.4(KAT6B):c.4065GGA[4] (p.Glu1368del)
|
rs367634881
|
|
NM_012330.4(KAT6B):c.4069G>T (p.Glu1357Ter)
|
rs199470476
|
|
NM_012330.4(KAT6B):c.4089_4092del (p.Glu1364fs)
|
rs1846092532
|
|
NM_012330.4(KAT6B):c.4096G>T (p.Glu1366Ter)
|
rs754348627
|
|
NM_012330.4(KAT6B):c.4101_4103del (p.Glu1368del)
|
rs2134237417
|
|
NM_012330.4(KAT6B):c.4153G>A (p.Ala1385Thr)
|
|
|
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs)
|
rs199470477
|
|
NM_012330.4(KAT6B):c.4230GGA[2] (p.Glu1414del)
|
rs745314195
|
|
NM_012330.4(KAT6B):c.4231G>C (p.Glu1411Gln)
|
|
|
NM_012330.4(KAT6B):c.4237G>T (p.Glu1413Ter)
|
rs1169094796
|
|
NM_012330.4(KAT6B):c.423C>G (p.Ser141Arg)
|
rs779662050
|
|
NM_012330.4(KAT6B):c.4298_4304delinsTC (p.His1433fs)
|
rs1589842816
|
|
NM_012330.4(KAT6B):c.4330C>G (p.Leu1444Val)
|
|
|
NM_012330.4(KAT6B):c.4391_4392del (p.Val1464fs)
|
rs2134240152
|
|
NM_012330.4(KAT6B):c.4405dup (p.Ser1469fs)
|
rs199470479
|
|
NM_012330.4(KAT6B):c.4406C>T (p.Ser1469Leu)
|
|
|
NM_012330.4(KAT6B):c.4461_4470del (p.Ser1487fs)
|
rs2134240789
|
|
NM_012330.4(KAT6B):c.446A>T (p.Gln149Leu)
|
|
|
NM_012330.4(KAT6B):c.4506del (p.Asp1503fs)
|
rs2134241204
|
|
NM_012330.4(KAT6B):c.4554_4555dup (p.Asn1519fs)
|
rs1554845880
|
|
NM_012330.4(KAT6B):c.4584del (p.Glu1529fs)
|
rs1554845902
|
|
NM_012330.4(KAT6B):c.4592del (p.Asn1531fs)
|
rs2549203895
|
|
NM_012330.4(KAT6B):c.4599_4601del (p.Thr1534del)
|
|
|
NM_012330.4(KAT6B):c.4616C>G (p.Ser1539Cys)
|
|
|
NM_012330.4(KAT6B):c.4727C>A (p.Thr1576Asn)
|
rs368252918
|
|
NM_012330.4(KAT6B):c.4752T>G (p.Ile1584Met)
|
|
|
NM_012330.4(KAT6B):c.4772G>A (p.Cys1591Tyr)
|
|
|
NM_012330.4(KAT6B):c.4885A>G (p.Ile1629Val)
|
rs1273966358
|
|
NM_012330.4(KAT6B):c.4911_4921del (p.Val1638fs)
|
rs199470480
|
|
NM_012330.4(KAT6B):c.4987G>C (p.Val1663Leu)
|
|
|
NM_012330.4(KAT6B):c.5014A>G (p.Ser1672Gly)
|
|
|
NM_012330.4(KAT6B):c.5064_5071delinsCACA (p.Met1690fs)
|
rs387907364
|
|
NM_012330.4(KAT6B):c.5068A>G (p.Met1690Val)
|
rs775327432
|
|
NM_012330.4(KAT6B):c.5117A>G (p.Tyr1706Cys)
|
|
|
NM_012330.4(KAT6B):c.5167dup (p.Gln1723fs)
|
rs1589845386
|
|
NM_012330.4(KAT6B):c.5169G>C (p.Gln1723His)
|
|
|
NM_012330.4(KAT6B):c.5201_5210dup (p.Gln1737fs)
|
rs199470482
|
|
NM_012330.4(KAT6B):c.521T>C (p.Val174Ala)
|
|
|
NM_012330.4(KAT6B):c.5221A>G (p.Ser1741Gly)
|
rs886047245
|
|
NM_012330.4(KAT6B):c.5230C>T (p.Pro1744Ser)
|
|
|
NM_012330.4(KAT6B):c.524A>G (p.Asn175Ser)
|
|
|
NM_012330.4(KAT6B):c.5251C>G (p.Pro1751Ala)
|
rs772074863
|
|
NM_012330.4(KAT6B):c.5254C>T (p.Gln1752Ter)
|
rs924532501
|
|
NM_012330.4(KAT6B):c.5302C>T (p.Gln1768Ter)
|
rs1554846300
|
|
NM_012330.4(KAT6B):c.5304G>T (p.Gln1768His)
|
rs1329717155
|
|
NM_012330.4(KAT6B):c.5339A>C (p.Gln1780Pro)
|
|
|
NM_012330.4(KAT6B):c.5356G>T (p.Glu1786Ter)
|
rs906740657
|
|
NM_012330.4(KAT6B):c.5370_5373dup (p.Ile1792fs)
|
rs199470483
|
|
NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter)
|
rs199470484
|
|
NM_012330.4(KAT6B):c.5426del (p.Pro1809fs)
|
|
|
NM_012330.4(KAT6B):c.5488C>T (p.His1830Tyr)
|
rs752572188
|
|
NM_012330.4(KAT6B):c.5512G>A (p.Ala1838Thr)
|
|
|
NM_012330.4(KAT6B):c.5609G>C (p.Gly1870Ala)
|
rs2549212959
|
|
NM_012330.4(KAT6B):c.5646del (p.Asn1883fs)
|
rs2549213434
|
|
NM_012330.4(KAT6B):c.5698A>G (p.Met1900Val)
|
rs779320993
|
|
NM_012330.4(KAT6B):c.575C>T (p.Pro192Leu)
|
|
|
NM_012330.4(KAT6B):c.5762del (p.Gly1921fs)
|
rs2549214778
|
|
NM_012330.4(KAT6B):c.5839T>C (p.Ser1947Pro)
|
|
|
NM_012330.4(KAT6B):c.586C>G (p.Pro196Ala)
|
rs2132075785
|
|
NM_012330.4(KAT6B):c.5873C>G (p.Thr1958Ser)
|
|
|
NM_012330.4(KAT6B):c.5947A>C (p.Asn1983His)
|
|
|
NM_012330.4(KAT6B):c.5949C>A (p.Asn1983Lys)
|
rs745470061
|
|
NM_012330.4(KAT6B):c.5991G>A (p.Met1997Ile)
|
|
|
NM_012330.4(KAT6B):c.6047C>T (p.Thr2016Met)
|
|
|
NM_012330.4(KAT6B):c.6050C>T (p.Pro2017Leu)
|
|
|
NM_012330.4(KAT6B):c.6058C>T (p.Pro2020Ser)
|
rs770958025
|
|
NM_012330.4(KAT6B):c.6109C>A (p.Pro2037Thr)
|
rs202007260
|
|
NM_012330.4(KAT6B):c.6116A>G (p.Gln2039Arg)
|
|
|
NM_012330.4(KAT6B):c.6119C>T (p.Thr2040Ile)
|
|
|
NM_012330.4(KAT6B):c.6179G>C (p.Gly2060Ala)
|
|
|
NM_012330.4(KAT6B):c.698A>G (p.Glu233Gly)
|
|
|
NM_012330.4(KAT6B):c.77G>A (p.Arg26Lys)
|
|
|
NM_012330.4(KAT6B):c.847-2A>G
|
rs1841745686
|
|