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.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.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.699A>G (p.Glu233=)
|
rs188787788
|
0.00010
|
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.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_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_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.2849+14C>T
|
rs398124196
|
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.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.5335A>G (p.Met1779Val)
|
rs772132735
|
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.2881C>T (p.Arg961Trp)
|
rs80338758
|
|
NM_005120.3(MED12):c.3760G>A (p.Gly1254Arg)
|
rs1459632977
|
|
NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del)
|
rs757160341
|
|
NM_005120.3(MED12):c.6397_6408delTCCCAGCCCCAG (p.Ser2133_Gln2136del)
|
rs2092347427
|
|
NM_012330.4(KAT6B):c.101A>G (p.His34Arg)
|
|
|
NM_012330.4(KAT6B):c.1025T>A (p.Ile342Asn)
|
rs182392778
|
|
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.1341T>G (p.Asp447Glu)
|
|
|
NM_012330.4(KAT6B):c.1351T>A (p.Ser451Thr)
|
|
|
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.1739C>T (p.Thr580Met)
|
|
|
NM_012330.4(KAT6B):c.1782A>G (p.Arg594=)
|
rs376823181
|
|
NM_012330.4(KAT6B):c.1993+5G>A
|
|
|
NM_012330.4(KAT6B):c.2038A>T (p.Asn680Tyr)
|
|
|
NM_012330.4(KAT6B):c.2066C>T (p.Thr689Ile)
|
|
|
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.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.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.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.299A>G (p.Asn100Ser)
|
rs2548334531
|
|
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.3155G>A (p.Arg1052Gln)
|
|
|
NM_012330.4(KAT6B):c.3210AGA[2] (p.Glu1076del)
|
rs765976563
|
|
NM_012330.4(KAT6B):c.3227A>T (p.Glu1076Val)
|
rs2549169829
|
|
NM_012330.4(KAT6B):c.3249_3257del (p.Glu1087_Glu1089del)
|
rs780405690
|
|
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.3341C>T (p.Thr1114Met)
|
rs755451488
|
|
NM_012330.4(KAT6B):c.3409C>T (p.Arg1137Cys)
|
|
|
NM_012330.4(KAT6B):c.3418A>T (p.Ile1140Phe)
|
|
|
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)
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rs761285524
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NM_012330.4(KAT6B):c.3574G>C (p.Ala1192Pro)
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NM_012330.4(KAT6B):c.3604C>G (p.Gln1202Glu)
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NM_012330.4(KAT6B):c.3629A>T (p.Asp1210Val)
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NM_012330.4(KAT6B):c.3653A>C (p.Asp1218Ala)
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NM_012330.4(KAT6B):c.3654C>A (p.Asp1218Glu)
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NM_012330.4(KAT6B):c.3717C>G (p.Pro1239=)
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rs147746065
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NM_012330.4(KAT6B):c.3722C>G (p.Pro1241Arg)
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NM_012330.4(KAT6B):c.3763G>A (p.Gly1255Ser)
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rs147574112
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NM_012330.4(KAT6B):c.3949G>A (p.Ala1317Thr)
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NM_012330.4(KAT6B):c.3962A>C (p.Gln1321Pro)
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NM_012330.4(KAT6B):c.4052A>G (p.Glu1351Gly)
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NM_012330.4(KAT6B):c.4062_4064del (p.Glu1368del)
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rs772530975
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NM_012330.4(KAT6B):c.4065GGA[3] (p.Glu1367_Glu1368del)
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rs367634881
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NM_012330.4(KAT6B):c.4101_4103del (p.Glu1368del)
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rs2134237417
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NM_012330.4(KAT6B):c.4153G>A (p.Ala1385Thr)
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NM_012330.4(KAT6B):c.4230GGA[2] (p.Glu1414del)
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rs745314195
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NM_012330.4(KAT6B):c.4231G>C (p.Glu1411Gln)
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NM_012330.4(KAT6B):c.423C>G (p.Ser141Arg)
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rs779662050
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NM_012330.4(KAT6B):c.4330C>G (p.Leu1444Val)
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NM_012330.4(KAT6B):c.4406C>T (p.Ser1469Leu)
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NM_012330.4(KAT6B):c.446A>T (p.Gln149Leu)
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NM_012330.4(KAT6B):c.4599_4601del (p.Thr1534del)
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NM_012330.4(KAT6B):c.4616C>G (p.Ser1539Cys)
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NM_012330.4(KAT6B):c.4727C>A (p.Thr1576Asn)
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rs368252918
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NM_012330.4(KAT6B):c.4752T>G (p.Ile1584Met)
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NM_012330.4(KAT6B):c.4772G>A (p.Cys1591Tyr)
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NM_012330.4(KAT6B):c.4885A>G (p.Ile1629Val)
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rs1273966358
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NM_012330.4(KAT6B):c.4987G>C (p.Val1663Leu)
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NM_012330.4(KAT6B):c.5068A>G (p.Met1690Val)
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rs775327432
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NM_012330.4(KAT6B):c.5117A>G (p.Tyr1706Cys)
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NM_012330.4(KAT6B):c.5169G>C (p.Gln1723His)
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NM_012330.4(KAT6B):c.521T>C (p.Val174Ala)
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NM_012330.4(KAT6B):c.5221A>G (p.Ser1741Gly)
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rs886047245
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NM_012330.4(KAT6B):c.5230C>T (p.Pro1744Ser)
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NM_012330.4(KAT6B):c.524A>G (p.Asn175Ser)
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NM_012330.4(KAT6B):c.5251C>G (p.Pro1751Ala)
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rs772074863
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NM_012330.4(KAT6B):c.5304G>T (p.Gln1768His)
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rs1329717155
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NM_012330.4(KAT6B):c.5339A>C (p.Gln1780Pro)
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NM_012330.4(KAT6B):c.5488C>T (p.His1830Tyr)
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rs752572188
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NM_012330.4(KAT6B):c.5512G>A (p.Ala1838Thr)
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NM_012330.4(KAT6B):c.5698A>G (p.Met1900Val)
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rs779320993
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NM_012330.4(KAT6B):c.575C>T (p.Pro192Leu)
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NM_012330.4(KAT6B):c.5839T>C (p.Ser1947Pro)
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NM_012330.4(KAT6B):c.586C>G (p.Pro196Ala)
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rs2132075785
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NM_012330.4(KAT6B):c.5873C>G (p.Thr1958Ser)
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NM_012330.4(KAT6B):c.5947A>C (p.Asn1983His)
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NM_012330.4(KAT6B):c.5991G>A (p.Met1997Ile)
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NM_012330.4(KAT6B):c.6047C>T (p.Thr2016Met)
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NM_012330.4(KAT6B):c.6050C>T (p.Pro2017Leu)
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NM_012330.4(KAT6B):c.6058C>T (p.Pro2020Ser)
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rs770958025
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NM_012330.4(KAT6B):c.6109C>A (p.Pro2037Thr)
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rs202007260
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NM_012330.4(KAT6B):c.6116A>G (p.Gln2039Arg)
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NM_012330.4(KAT6B):c.6119C>T (p.Thr2040Ile)
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NM_012330.4(KAT6B):c.6179G>C (p.Gly2060Ala)
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NM_012330.4(KAT6B):c.698A>G (p.Glu233Gly)
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NM_012330.4(KAT6B):c.77G>A (p.Arg26Lys)
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