NM_012330.4(KAT6B):c.4278C>T (p.Ala1426=)
|
rs3740322
|
0.03160
|
NM_012330.4(KAT6B):c.4495G>A (p.Val1499Ile)
|
rs3740321
|
0.03151
|
NM_012330.4(KAT6B):c.3649G>T (p.Ala1217Ser)
|
rs57372986
|
0.00678
|
NM_012330.4(KAT6B):c.929-12A>G
|
rs190502446
|
0.00571
|
NM_012330.4(KAT6B):c.4407G>A (p.Ser1469=)
|
rs114126792
|
0.00421
|
NM_012330.4(KAT6B):c.4835G>A (p.Arg1612His)
|
rs72803461
|
0.00277
|
NM_012330.4(KAT6B):c.375C>T (p.Ser125=)
|
rs41314998
|
0.00269
|
NM_012330.4(KAT6B):c.2231+9A>G
|
rs201260397
|
0.00101
|
NM_012330.4(KAT6B):c.1663G>A (p.Gly555Arg)
|
rs146395020
|
0.00054
|
NM_012330.4(KAT6B):c.1468C>T (p.Pro490Ser)
|
rs141930257
|
0.00046
|
NM_012330.4(KAT6B):c.5970C>T (p.Asn1990=)
|
rs140359323
|
0.00046
|
NM_012330.4(KAT6B):c.4441C>G (p.Leu1481Val)
|
rs567260713
|
0.00045
|
NM_012330.4(KAT6B):c.4239A>G (p.Glu1413=)
|
rs140636550
|
0.00038
|
NM_012330.4(KAT6B):c.3729G>C (p.Lys1243Asn)
|
rs550048327
|
0.00035
|
NM_012330.4(KAT6B):c.2374-10T>C
|
rs376833457
|
0.00034
|
NM_012330.4(KAT6B):c.4633G>A (p.Val1545Ile)
|
rs145158232
|
0.00033
|
NM_012330.4(KAT6B):c.4141G>C (p.Asp1381His)
|
rs376231865
|
0.00031
|
NM_012330.4(KAT6B):c.6162C>T (p.His2054=)
|
rs192237531
|
0.00030
|
NM_012330.4(KAT6B):c.3416G>A (p.Arg1139Lys)
|
rs149295701
|
0.00029
|
NM_012330.4(KAT6B):c.4390G>A (p.Val1464Met)
|
rs143733161
|
0.00028
|
NM_012330.4(KAT6B):c.4434C>T (p.Gly1478=)
|
rs148364222
|
0.00026
|
NM_012330.4(KAT6B):c.4611C>T (p.Ile1537=)
|
rs371945178
|
0.00024
|
NM_012330.4(KAT6B):c.5355C>T (p.Pro1785=)
|
rs138711901
|
0.00024
|
NM_012330.4(KAT6B):c.5749A>G (p.Ile1917Val)
|
rs199662367
|
0.00024
|
NM_012330.4(KAT6B):c.1025T>C (p.Ile342Thr)
|
rs182392778
|
0.00021
|
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.1268C>G (p.Ser423Cys)
|
rs770325540
|
0.00019
|
NM_012330.4(KAT6B):c.1512C>A (p.Ser504Arg)
|
rs769903041
|
0.00019
|
NM_012330.4(KAT6B):c.3828G>A (p.Pro1276=)
|
rs141935235
|
0.00019
|
NM_012330.4(KAT6B):c.625C>T (p.Arg209Cys)
|
rs572706456
|
0.00019
|
NM_012330.4(KAT6B):c.2448G>A (p.Thr816=)
|
rs372149429
|
0.00017
|
NM_012330.4(KAT6B):c.3028C>T (p.Arg1010Trp)
|
rs142309185
|
0.00016
|
NM_012330.4(KAT6B):c.3685A>G (p.Ser1229Gly)
|
rs182978198
|
0.00016
|
NM_012330.4(KAT6B):c.5922G>A (p.Ala1974=)
|
rs780751688
|
0.00016
|
NM_012330.4(KAT6B):c.6048G>A (p.Thr2016=)
|
rs116978399
|
0.00016
|
NM_012330.4(KAT6B):c.1689G>A (p.Pro563=)
|
rs139737811
|
0.00015
|
NM_012330.4(KAT6B):c.307C>T (p.Arg103Cys)
|
rs374549966
|
0.00015
|
NM_012330.4(KAT6B):c.1994-20C>T
|
rs373239366
|
0.00014
|
NM_012330.4(KAT6B):c.2272A>G (p.Met758Val)
|
rs766894762
|
0.00014
|
NM_012330.4(KAT6B):c.2833C>T (p.Leu945Phe)
|
rs200018142
|
0.00014
|
NM_012330.4(KAT6B):c.4659C>T (p.Ser1553=)
|
rs147158118
|
0.00014
|
NM_012330.4(KAT6B):c.730+7T>A
|
rs571475726
|
0.00014
|
NM_012330.4(KAT6B):c.4510G>A (p.Glu1504Lys)
|
rs200393557
|
0.00011
|
NM_012330.4(KAT6B):c.5679G>A (p.Pro1893=)
|
rs370977553
|
0.00011
|
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.4036G>T (p.Asp1346Tyr)
|
rs542036896
|
0.00010
|
NM_012330.4(KAT6B):c.5368G>A (p.Ala1790Thr)
|
rs766117254
|
0.00010
|
NM_012330.4(KAT6B):c.699A>G (p.Glu233=)
|
rs188787788
|
0.00010
|
NM_012330.4(KAT6B):c.147A>G (p.Glu49=)
|
rs1041827351
|
0.00009
|
NM_012330.4(KAT6B):c.3255A>G (p.Glu1085=)
|
rs933289359
|
0.00009
|
NM_012330.4(KAT6B):c.3258A>C (p.Glu1086Asp)
|
rs754680177
|
0.00009
|
NM_012330.4(KAT6B):c.3264A>G (p.Glu1088=)
|
rs551589427
|
0.00009
|
NM_012330.4(KAT6B):c.3326C>T (p.Ser1109Phe)
|
rs199963389
|
0.00009
|
NM_012330.4(KAT6B):c.4760C>T (p.Thr1587Met)
|
rs145636342
|
0.00009
|
NM_012330.4(KAT6B):c.5433G>A (p.Pro1811=)
|
rs201084874
|
0.00009
|
NM_012330.4(KAT6B):c.839G>A (p.Arg280Lys)
|
rs148243411
|
0.00009
|
NM_012330.4(KAT6B):c.1581T>G (p.Ser527Arg)
|
rs201681469
|
0.00007
|
NM_012330.4(KAT6B):c.1927A>T (p.Met643Leu)
|
rs778899637
|
0.00007
|
NM_012330.4(KAT6B):c.3477C>G (p.Pro1159=)
|
rs145574734
|
0.00007
|
NM_012330.4(KAT6B):c.4077G>A (p.Glu1359=)
|
rs560274634
|
0.00007
|
NM_012330.4(KAT6B):c.4478C>T (p.Ala1493Val)
|
rs369068910
|
0.00007
|
NM_012330.4(KAT6B):c.4776A>G (p.Gln1592=)
|
rs148492740
|
0.00007
|
NM_012330.4(KAT6B):c.1675A>G (p.Lys559Glu)
|
rs182593735
|
0.00006
|
NM_012330.4(KAT6B):c.1714C>T (p.Arg572Cys)
|
rs766989154
|
0.00006
|
NM_012330.4(KAT6B):c.2373+9G>A
|
rs200359469
|
0.00006
|
NM_012330.4(KAT6B):c.354T>C (p.Leu118=)
|
rs147013911
|
0.00006
|
NM_012330.4(KAT6B):c.3559C>T (p.Pro1187Ser)
|
rs370725802
|
0.00006
|
NM_012330.4(KAT6B):c.3697G>A (p.Glu1233Lys)
|
rs371178186
|
0.00006
|
NM_012330.4(KAT6B):c.3957G>T (p.Leu1319Phe)
|
rs150339818
|
0.00006
|
NM_012330.4(KAT6B):c.4118A>G (p.Glu1373Gly)
|
rs373140884
|
0.00006
|
NM_012330.4(KAT6B):c.4251G>A (p.Glu1417=)
|
rs770760304
|
0.00006
|
NM_012330.4(KAT6B):c.4807G>A (p.Val1603Ile)
|
rs142688976
|
0.00006
|
NM_012330.4(KAT6B):c.519G>A (p.Arg173=)
|
rs374557982
|
0.00006
|
NM_012330.4(KAT6B):c.5783A>G (p.Lys1928Arg)
|
rs374914802
|
0.00006
|
NM_012330.4(KAT6B):c.5967C>T (p.Leu1989=)
|
rs373882553
|
0.00006
|
NM_012330.4(KAT6B):c.6147G>A (p.Thr2049=)
|
rs533433915
|
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.1565C>A (p.Ser522Tyr)
|
rs200852439
|
0.00005
|
NM_012330.4(KAT6B):c.3762C>T (p.Arg1254=)
|
rs145119505
|
0.00005
|
NM_012330.4(KAT6B):c.3801C>T (p.Thr1267=)
|
rs375206291
|
0.00005
|
NM_012330.4(KAT6B):c.4878C>T (p.Tyr1626=)
|
rs146568876
|
0.00005
|
NM_012330.4(KAT6B):c.5192G>C (p.Ser1731Thr)
|
rs778770748
|
0.00005
|
NM_012330.4(KAT6B):c.5385C>T (p.Tyr1795=)
|
rs767336647
|
0.00005
|
NM_012330.4(KAT6B):c.1709G>A (p.Arg570His)
|
rs372742885
|
0.00004
|
NM_012330.4(KAT6B):c.1798C>T (p.His600Tyr)
|
rs187153114
|
0.00004
|
NM_012330.4(KAT6B):c.2463C>T (p.Val821=)
|
rs1470032014
|
0.00004
|
NM_012330.4(KAT6B):c.2629+9A>G
|
rs745942441
|
0.00004
|
NM_012330.4(KAT6B):c.3106C>A (p.Pro1036Thr)
|
rs764184204
|
0.00004
|
NM_012330.4(KAT6B):c.3216A>G (p.Glu1072=)
|
rs776709807
|
0.00004
|
NM_012330.4(KAT6B):c.4312G>A (p.Glu1438Lys)
|
rs377275320
|
0.00004
|
NM_012330.4(KAT6B):c.4523C>A (p.Pro1508Gln)
|
rs1014954135
|
0.00004
|
NM_012330.4(KAT6B):c.5364C>A (p.Ser1788Arg)
|
rs376103273
|
0.00004
|
NM_012330.4(KAT6B):c.5879C>T (p.Thr1960Met)
|
rs147168060
|
0.00004
|
NM_012330.4(KAT6B):c.6054A>G (p.Gln2018=)
|
rs1446331653
|
0.00004
|
NM_012330.4(KAT6B):c.6153C>T (p.Pro2051=)
|
rs544887456
|
0.00004
|
NM_012330.4(KAT6B):c.1439C>T (p.Ala480Val)
|
rs749428929
|
0.00003
|
NM_012330.4(KAT6B):c.1626A>G (p.Ala542=)
|
rs748080816
|
0.00003
|
NM_012330.4(KAT6B):c.2153G>A (p.Arg718Gln)
|
rs754128910
|
0.00003
|
NM_012330.4(KAT6B):c.2793G>A (p.Thr931=)
|
rs140113295
|
0.00003
|
NM_012330.4(KAT6B):c.3232G>A (p.Glu1078Lys)
|
rs184028635
|
0.00003
|
NM_012330.4(KAT6B):c.3358G>T (p.Ala1120Ser)
|
rs777180869
|
0.00003
|
NM_012330.4(KAT6B):c.3539T>G (p.Val1180Gly)
|
rs1213787718
|
0.00003
|
NM_012330.4(KAT6B):c.3741G>A (p.Val1247=)
|
rs957783395
|
0.00003
|
NM_012330.4(KAT6B):c.3847C>G (p.Pro1283Ala)
|
rs371747862
|
0.00003
|
NM_012330.4(KAT6B):c.3994C>T (p.Pro1332Ser)
|
rs764565963
|
0.00003
|
NM_012330.4(KAT6B):c.4263C>T (p.Asn1421=)
|
rs148928516
|
0.00003
|
NM_012330.4(KAT6B):c.4384C>A (p.Leu1462Ile)
|
rs374530664
|
0.00003
|
NM_012330.4(KAT6B):c.4879G>A (p.Ala1627Thr)
|
rs199792793
|
0.00003
|
NM_012330.4(KAT6B):c.5232G>A (p.Pro1744=)
|
rs569870263
|
0.00003
|
NM_012330.4(KAT6B):c.5487T>C (p.Asp1829=)
|
rs767046915
|
0.00003
|
NM_012330.4(KAT6B):c.5601C>T (p.Ser1867=)
|
rs138499019
|
0.00003
|
NM_012330.4(KAT6B):c.5831A>G (p.Tyr1944Cys)
|
rs143966521
|
0.00003
|
NM_012330.4(KAT6B):c.5863C>G (p.Pro1955Ala)
|
rs762788479
|
0.00003
|
NM_012330.4(KAT6B):c.603A>G (p.Leu201=)
|
rs913559908
|
0.00003
|
NM_012330.4(KAT6B):c.6211A>G (p.Met2071Val)
|
rs759978500
|
0.00003
|
NM_012330.4(KAT6B):c.836G>A (p.Gly279Asp)
|
rs370398832
|
0.00003
|
NM_012330.4(KAT6B):c.112A>G (p.Thr38Ala)
|
rs774022852
|
0.00002
|
NM_012330.4(KAT6B):c.1235A>G (p.Lys412Arg)
|
rs756609904
|
0.00002
|
NM_012330.4(KAT6B):c.1346G>A (p.Arg449His)
|
rs768502700
|
0.00002
|
NM_012330.4(KAT6B):c.1504G>A (p.Gly502Ser)
|
rs745726033
|
0.00002
|
NM_012330.4(KAT6B):c.1536G>A (p.Thr512=)
|
rs769547419
|
0.00002
|
NM_012330.4(KAT6B):c.1539C>T (p.Ala513=)
|
rs774605212
|
0.00002
|
NM_012330.4(KAT6B):c.1754C>T (p.Ala585Val)
|
rs780418110
|
0.00002
|
NM_012330.4(KAT6B):c.2250G>A (p.Leu750=)
|
rs773341895
|
0.00002
|
NM_012330.4(KAT6B):c.2643T>C (p.Ser881=)
|
rs1421625053
|
0.00002
|
NM_012330.4(KAT6B):c.281G>A (p.Gly94Glu)
|
rs370028079
|
0.00002
|
NM_012330.4(KAT6B):c.311A>G (p.Asn104Ser)
|
rs771668977
|
0.00002
|
NM_012330.4(KAT6B):c.3122C>T (p.Ser1041Leu)
|
rs377321963
|
0.00002
|
NM_012330.4(KAT6B):c.3293A>G (p.Glu1098Gly)
|
rs774138994
|
0.00002
|
NM_012330.4(KAT6B):c.3381T>C (p.Phe1127=)
|
rs370323472
|
0.00002
|
NM_012330.4(KAT6B):c.3465A>G (p.Val1155=)
|
rs749374416
|
0.00002
|
NM_012330.4(KAT6B):c.3987A>T (p.Thr1329=)
|
rs1244083662
|
0.00002
|
NM_012330.4(KAT6B):c.4252C>T (p.Pro1418Ser)
|
rs780199206
|
0.00002
|
NM_012330.4(KAT6B):c.4474C>G (p.Leu1492Val)
|
rs1253925939
|
0.00002
|
NM_012330.4(KAT6B):c.4834C>T (p.Arg1612Cys)
|
rs140992439
|
0.00002
|
NM_012330.4(KAT6B):c.4887C>T (p.Ile1629=)
|
rs775407900
|
0.00002
|
NM_012330.4(KAT6B):c.510G>A (p.Pro170=)
|
rs750020725
|
0.00002
|
NM_012330.4(KAT6B):c.5280G>A (p.Pro1760=)
|
rs530795452
|
0.00002
|
NM_012330.4(KAT6B):c.5327C>A (p.Thr1776Asn)
|
rs747908108
|
0.00002
|
NM_012330.4(KAT6B):c.5360C>T (p.Thr1787Met)
|
rs765731378
|
0.00002
|
NM_012330.4(KAT6B):c.5790G>A (p.Ala1930=)
|
rs369127534
|
0.00002
|
NM_012330.4(KAT6B):c.765A>G (p.Leu255=)
|
rs1338699123
|
0.00002
|
NM_012330.4(KAT6B):c.86A>T (p.Glu29Val)
|
rs1167009272
|
0.00002
|
NM_012330.4(KAT6B):c.876T>C (p.Asp292=)
|
rs367774560
|
0.00002
|
NM_012330.4(KAT6B):c.1011A>T (p.Arg337=)
|
rs927389645
|
0.00001
|
NM_012330.4(KAT6B):c.1189A>C (p.Ser397Arg)
|
rs1842093971
|
0.00001
|
NM_012330.4(KAT6B):c.119A>G (p.His40Arg)
|
rs1367725176
|
0.00001
|
NM_012330.4(KAT6B):c.121G>A (p.Gly41Arg)
|
rs759479262
|
0.00001
|
NM_012330.4(KAT6B):c.1367T>C (p.Ile456Thr)
|
rs766318986
|
0.00001
|
NM_012330.4(KAT6B):c.1387C>T (p.Arg463Cys)
|
rs1222902525
|
0.00001
|
NM_012330.4(KAT6B):c.1540A>G (p.Thr514Ala)
|
rs534868169
|
0.00001
|
NM_012330.4(KAT6B):c.1566T>C (p.Ser522=)
|
rs540521199
|
0.00001
|
NM_012330.4(KAT6B):c.1654A>G (p.Thr552Ala)
|
rs373962168
|
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.1727A>C (p.Glu576Ala)
|
rs990047621
|
0.00001
|
NM_012330.4(KAT6B):c.1782A>G (p.Arg594=)
|
rs376823181
|
0.00001
|
NM_012330.4(KAT6B):c.1865G>A (p.Arg622Gln)
|
rs773318837
|
0.00001
|
NM_012330.4(KAT6B):c.2014A>G (p.Ile672Val)
|
rs757770040
|
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.2143G>C (p.Asp715His)
|
rs1842357931
|
0.00001
|
NM_012330.4(KAT6B):c.2373+7G>A
|
rs555317263
|
0.00001
|
NM_012330.4(KAT6B):c.2501A>T (p.Glu834Val)
|
rs768402080
|
0.00001
|
NM_012330.4(KAT6B):c.2734G>A (p.Glu912Lys)
|
rs375276786
|
0.00001
|
NM_012330.4(KAT6B):c.282G>A (p.Gly94=)
|
rs569038847
|
0.00001
|
NM_012330.4(KAT6B):c.2879G>A (p.Arg960Gln)
|
rs753695521
|
0.00001
|
NM_012330.4(KAT6B):c.2926A>C (p.Arg976=)
|
rs749648834
|
0.00001
|
NM_012330.4(KAT6B):c.2991G>A (p.Val997=)
|
rs1421489322
|
0.00001
|
NM_012330.4(KAT6B):c.3029G>A (p.Arg1010Gln)
|
rs377645098
|
0.00001
|
NM_012330.4(KAT6B):c.3109G>A (p.Ala1037Thr)
|
rs754306389
|
0.00001
|
NM_012330.4(KAT6B):c.3117A>G (p.Val1039=)
|
rs779092722
|
0.00001
|
NM_012330.4(KAT6B):c.3120A>G (p.Gln1040=)
|
rs1244529911
|
0.00001
|
NM_012330.4(KAT6B):c.3154C>T (p.Arg1052Trp)
|
rs747968644
|
0.00001
|
NM_012330.4(KAT6B):c.3201G>A (p.Glu1067=)
|
rs764097613
|
0.00001
|
NM_012330.4(KAT6B):c.3226G>A (p.Glu1076Lys)
|
rs750930283
|
0.00001
|
NM_012330.4(KAT6B):c.3246A>G (p.Glu1082=)
|
rs533495849
|
0.00001
|
NM_012330.4(KAT6B):c.3523A>G (p.Thr1175Ala)
|
rs1389778097
|
0.00001
|
NM_012330.4(KAT6B):c.3533T>C (p.Ile1178Thr)
|
rs1264397368
|
0.00001
|
NM_012330.4(KAT6B):c.362C>T (p.Pro121Leu)
|
rs201828896
|
0.00001
|
NM_012330.4(KAT6B):c.363G>A (p.Pro121=)
|
rs756668320
|
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.3728A>G (p.Lys1243Arg)
|
rs758355954
|
0.00001
|
NM_012330.4(KAT6B):c.385A>G (p.Ile129Val)
|
rs778694892
|
0.00001
|
NM_012330.4(KAT6B):c.3900C>G (p.Thr1300=)
|
rs201742830
|
0.00001
|
NM_012330.4(KAT6B):c.4046A>G (p.Lys1349Arg)
|
rs377300582
|
0.00001
|
NM_012330.4(KAT6B):c.4080A>G (p.Glu1360=)
|
rs546432678
|
0.00001
|
NM_012330.4(KAT6B):c.4225G>A (p.Glu1409Lys)
|
rs370657796
|
0.00001
|
NM_012330.4(KAT6B):c.4271A>G (p.His1424Arg)
|
rs529353814
|
0.00001
|
NM_012330.4(KAT6B):c.4311C>T (p.Ala1437=)
|
rs774858121
|
0.00001
|
NM_012330.4(KAT6B):c.4435G>A (p.Val1479Ile)
|
rs775255115
|
0.00001
|
NM_012330.4(KAT6B):c.452G>A (p.Arg151Gln)
|
rs761606204
|
0.00001
|
NM_012330.4(KAT6B):c.4570G>A (p.Asp1524Asn)
|
rs545973592
|
0.00001
|
NM_012330.4(KAT6B):c.4656C>G (p.Ser1552Arg)
|
rs768290031
|
0.00001
|
NM_012330.4(KAT6B):c.465G>A (p.Gly155=)
|
rs143630427
|
0.00001
|
NM_012330.4(KAT6B):c.4830C>T (p.Ser1610=)
|
rs562072459
|
0.00001
|
NM_012330.4(KAT6B):c.5112C>T (p.Cys1704=)
|
rs767983250
|
0.00001
|
NM_012330.4(KAT6B):c.5138G>A (p.Ser1713Asn)
|
rs1211985137
|
0.00001
|
NM_012330.4(KAT6B):c.5262T>C (p.Cys1754=)
|
rs775997284
|
0.00001
|
NM_012330.4(KAT6B):c.5279C>T (p.Pro1760Leu)
|
rs1385883942
|
0.00001
|
NM_012330.4(KAT6B):c.5386G>A (p.Glu1796Lys)
|
rs201792033
|
0.00001
|
NM_012330.4(KAT6B):c.5426C>T (p.Pro1809Leu)
|
rs780359970
|
0.00001
|
NM_012330.4(KAT6B):c.5502C>T (p.Tyr1834=)
|
rs756031303
|
0.00001
|
NM_012330.4(KAT6B):c.5511C>T (p.Ser1837=)
|
rs757121198
|
0.00001
|
NM_012330.4(KAT6B):c.5662C>T (p.Pro1888Ser)
|
rs372648542
|
0.00001
|
NM_012330.4(KAT6B):c.5809G>T (p.Ala1937Ser)
|
rs772444140
|
0.00001
|
NM_012330.4(KAT6B):c.5889A>G (p.Arg1963=)
|
rs1846254881
|
0.00001
|
NM_012330.4(KAT6B):c.5971G>A (p.Ala1991Thr)
|
rs774281154
|
0.00001
|
NM_012330.4(KAT6B):c.6014G>A (p.Gly2005Asp)
|
rs141200092
|
0.00001
|
NM_012330.4(KAT6B):c.6024C>T (p.Ser2008=)
|
rs929348437
|
0.00001
|
NM_012330.4(KAT6B):c.6057C>T (p.Tyr2019=)
|
rs748866707
|
0.00001
|
NM_012330.4(KAT6B):c.609T>C (p.His203=)
|
rs766064284
|
0.00001
|
NM_012330.4(KAT6B):c.6129C>T (p.His2043=)
|
rs759909977
|
0.00001
|
NM_012330.4(KAT6B):c.6163G>A (p.Gly2055Ser)
|
rs201636977
|
0.00001
|
NM_012330.4(KAT6B):c.621+6C>T
|
rs754457692
|
0.00001
|
NM_012330.4(KAT6B):c.679C>T (p.Arg227Cys)
|
rs749252195
|
0.00001
|
NM_012330.4(KAT6B):c.717T>C (p.Asp239=)
|
rs1416245734
|
0.00001
|
NM_012330.4(KAT6B):c.782C>T (p.Ala261Val)
|
rs935089030
|
0.00001
|
NM_012330.4(KAT6B):c.801C>T (p.Ile267=)
|
rs1459841520
|
0.00001
|
NC_000010.10:g.(?_76780320)_(76790804_?)dup
|
|
|
NM_012330.3(KAT6B):c.3681_3696del16 (p.Asp1227Glufs)
|
rs199470469
|
|
NM_012330.4(KAT6B):c.1002A>C (p.Ile334=)
|
|
|
NM_012330.4(KAT6B):c.1009C>T (p.Arg337Ter)
|
|
|
NM_012330.4(KAT6B):c.1017A>G (p.Ala339=)
|
|
|
NM_012330.4(KAT6B):c.1025T>A (p.Ile342Asn)
|
rs182392778
|
|
NM_012330.4(KAT6B):c.1026T>C (p.Ile342=)
|
|
|
NM_012330.4(KAT6B):c.1030C>A (p.Arg344=)
|
|
|
NM_012330.4(KAT6B):c.1035G>A (p.Pro345=)
|
|
|
NM_012330.4(KAT6B):c.104C>T (p.Ala35Val)
|
|
|
NM_012330.4(KAT6B):c.1061+13C>A
|
|
|
NM_012330.4(KAT6B):c.1061+20A>C
|
|
|
NM_012330.4(KAT6B):c.1062-14A>G
|
rs1256928128
|
|
NM_012330.4(KAT6B):c.1062-16C>G
|
rs886038587
|
|
NM_012330.4(KAT6B):c.1070C>A (p.Thr357Asn)
|
rs2133719323
|
|
NM_012330.4(KAT6B):c.1073G>A (p.Ser358Asn)
|
|
|
NM_012330.4(KAT6B):c.1087A>G (p.Met363Val)
|
|
|
NM_012330.4(KAT6B):c.1098C>T (p.Phe366=)
|
|
|
NM_012330.4(KAT6B):c.109A>G (p.Ser37Gly)
|
rs770545156
|
|
NM_012330.4(KAT6B):c.1107G>A (p.Arg369=)
|
|
|
NM_012330.4(KAT6B):c.1145C>A (p.Thr382Asn)
|
|
|
NM_012330.4(KAT6B):c.1147A>G (p.Thr383Ala)
|
|
|
NM_012330.4(KAT6B):c.1159G>T (p.Gly387Cys)
|
|
|
NM_012330.4(KAT6B):c.1162C>T (p.His388Tyr)
|
rs2133720225
|
|
NM_012330.4(KAT6B):c.1170A>T (p.Ala390=)
|
|
|
NM_012330.4(KAT6B):c.1184C>T (p.Ser395Leu)
|
rs1157587933
|
|
NM_012330.4(KAT6B):c.1188C>T (p.Ser396=)
|
|
|
NM_012330.4(KAT6B):c.1210C>T (p.Pro404Ser)
|
|
|
NM_012330.4(KAT6B):c.1213A>C (p.Thr405Pro)
|
|
|
NM_012330.4(KAT6B):c.1216C>T (p.Arg406Trp)
|
|
|
NM_012330.4(KAT6B):c.1217G>A (p.Arg406Gln)
|
|
|
NM_012330.4(KAT6B):c.1228A>G (p.Thr410Ala)
|
|
|
NM_012330.4(KAT6B):c.1238T>C (p.Ile413Thr)
|
rs1842099343
|
|
NM_012330.4(KAT6B):c.1251C>T (p.Ser417=)
|
|
|
NM_012330.4(KAT6B):c.1252A>G (p.Thr418Ala)
|
rs2133721937
|
|
NM_012330.4(KAT6B):c.1278_1283del (p.Lys426_Val427del)
|
rs760375622
|
|
NM_012330.4(KAT6B):c.1308T>C (p.Asp436=)
|
|
|
NM_012330.4(KAT6B):c.1366A>C (p.Ile456Leu)
|
rs763282624
|
|
NM_012330.4(KAT6B):c.1388G>A (p.Arg463His)
|
|
|
NM_012330.4(KAT6B):c.1404C>T (p.Val468=)
|
|
|
NM_012330.4(KAT6B):c.1416G>A (p.Gln472=)
|
|
|
NM_012330.4(KAT6B):c.1449_1451del (p.Thr484del)
|
|
|
NM_012330.4(KAT6B):c.1475C>T (p.Ser492Phe)
|
|
|
NM_012330.4(KAT6B):c.1485A>G (p.Pro495=)
|
|
|
NM_012330.4(KAT6B):c.1491A>G (p.Pro497=)
|
|
|
NM_012330.4(KAT6B):c.1494C>T (p.Thr498=)
|
|
|
NM_012330.4(KAT6B):c.1495C>T (p.Pro499Ser)
|
|
|
NM_012330.4(KAT6B):c.1497C>T (p.Pro499=)
|
|
|
NM_012330.4(KAT6B):c.1503C>T (p.Ser501=)
|
|
|
NM_012330.4(KAT6B):c.1513C>G (p.Pro505Ala)
|
rs1842122441
|
|
NM_012330.4(KAT6B):c.1527G>C (p.Lys509Asn)
|
|
|
NM_012330.4(KAT6B):c.1533C>T (p.Ser511=)
|
|
|
NM_012330.4(KAT6B):c.1542_1543delinsCA (p.Ser515Thr)
|
rs2133726080
|
|
NM_012330.4(KAT6B):c.1543T>A (p.Ser515Thr)
|
|
|
NM_012330.4(KAT6B):c.1543TCT[1] (p.Ser516del)
|
|
|
NM_012330.4(KAT6B):c.1549C>T (p.Pro517Ser)
|
|
|
NM_012330.4(KAT6B):c.1551C>T (p.Pro517=)
|
|
|
NM_012330.4(KAT6B):c.1557C>G (p.Pro519=)
|
|
|
NM_012330.4(KAT6B):c.1568C>G (p.Ser523Cys)
|
|
|
NM_012330.4(KAT6B):c.1576T>A (p.Cys526Ser)
|
|
|
NM_012330.4(KAT6B):c.1584G>A (p.Val528=)
|
|
|
NM_012330.4(KAT6B):c.160A>G (p.Ser54Gly)
|
|
|
NM_012330.4(KAT6B):c.1646A>C (p.His549Pro)
|
rs755919401
|
|
NM_012330.4(KAT6B):c.1646A>G (p.His549Arg)
|
|
|
NM_012330.4(KAT6B):c.1662G>A (p.Gln554=)
|
rs1315521603
|
|
NM_012330.4(KAT6B):c.1673G>A (p.Arg558His)
|
|
|
NM_012330.4(KAT6B):c.1684C>T (p.His562Tyr)
|
|
|
NM_012330.4(KAT6B):c.1686C>T (p.His562=)
|
|
|
NM_012330.4(KAT6B):c.1695T>C (p.Tyr565=)
|
|
|
NM_012330.4(KAT6B):c.1697C>T (p.Ala566Val)
|
|
|
NM_012330.4(KAT6B):c.1708C>T (p.Arg570Cys)
|
|
|
NM_012330.4(KAT6B):c.1715G>A (p.Arg572His)
|
|
|
NM_012330.4(KAT6B):c.1728A>G (p.Glu576=)
|
|
|
NM_012330.4(KAT6B):c.1732T>C (p.Ser578Pro)
|
rs2133729503
|
|
NM_012330.4(KAT6B):c.1756C>G (p.His586Asp)
|
|
|
NM_012330.4(KAT6B):c.1757A>C (p.His586Pro)
|
|
|
NM_012330.4(KAT6B):c.1786C>T (p.Arg596Trp)
|
|
|
NM_012330.4(KAT6B):c.1788G>T (p.Arg596=)
|
|
|
NM_012330.4(KAT6B):c.1794T>C (p.Ile598=)
|
|
|
NM_012330.4(KAT6B):c.1800C>T (p.His600=)
|
|
|
NM_012330.4(KAT6B):c.1805C>A (p.Ser602Tyr)
|
|
|
NM_012330.4(KAT6B):c.1805C>T (p.Ser602Phe)
|
|
|
NM_012330.4(KAT6B):c.1808C>T (p.Ser603Phe)
|
|
|
NM_012330.4(KAT6B):c.1813A>C (p.Ser605Arg)
|
rs2133730853
|
|
NM_012330.4(KAT6B):c.1815C>T (p.Ser605=)
|
|
|
NM_012330.4(KAT6B):c.1839T>G (p.Ile613Met)
|
|
|
NM_012330.4(KAT6B):c.1844A>G (p.Lys615Arg)
|
|
|
NM_012330.4(KAT6B):c.1849A>C (p.Ile617Leu)
|
|
|
NM_012330.4(KAT6B):c.1849A>G (p.Ile617Val)
|
|
|
NM_012330.4(KAT6B):c.1851T>G (p.Ile617Met)
|
rs1842148699
|
|
NM_012330.4(KAT6B):c.1855C>G (p.His619Asp)
|
|
|
NM_012330.4(KAT6B):c.1874T>G (p.Phe625Cys)
|
rs760605044
|
|
NM_012330.4(KAT6B):c.1876C>T (p.Leu626Phe)
|
|
|
NM_012330.4(KAT6B):c.1887C>T (p.His629=)
|
rs886038588
|
|
NM_012330.4(KAT6B):c.1899C>T (p.Gly633=)
|
|
|
NM_012330.4(KAT6B):c.1901G>C (p.Arg634Thr)
|
|
|
NM_012330.4(KAT6B):c.1906A>G (p.Lys636Glu)
|
|
|
NM_012330.4(KAT6B):c.1911T>C (p.Tyr637=)
|
|
|
NM_012330.4(KAT6B):c.1914A>T (p.Lys638Asn)
|
|
|
NM_012330.4(KAT6B):c.1917G>A (p.Val639=)
|
|
|
NM_012330.4(KAT6B):c.1932G>A (p.Gly644=)
|
|
|
NM_012330.4(KAT6B):c.1935C>A (p.Thr645=)
|
|
|
NM_012330.4(KAT6B):c.1947G>T (p.Gly649=)
|
|
|
NM_012330.4(KAT6B):c.1957T>C (p.Leu653=)
|
rs2133732795
|
|
NM_012330.4(KAT6B):c.1974T>A (p.Ile658=)
|
|
|
NM_012330.4(KAT6B):c.1989T>C (p.Asp663=)
|
|
|
NM_012330.4(KAT6B):c.198A>G (p.Lys66=)
|
|
|
NM_012330.4(KAT6B):c.1994-18G>A
|
|
|
NM_012330.4(KAT6B):c.1994-8A>C
|
|
|
NM_012330.4(KAT6B):c.1996A>G (p.Thr666Ala)
|
|
|
NM_012330.4(KAT6B):c.2008A>G (p.Ile670Val)
|
|
|
NM_012330.4(KAT6B):c.2042T>A (p.Val681Glu)
|
|
|
NM_012330.4(KAT6B):c.2048G>A (p.Gly683Glu)
|
|
|
NM_012330.4(KAT6B):c.2084T>C (p.Val695Ala)
|
|
|
NM_012330.4(KAT6B):c.2095G>A (p.Ala699Thr)
|
|
|
NM_012330.4(KAT6B):c.2096C>T (p.Ala699Val)
|
rs2133747800
|
|
NM_012330.4(KAT6B):c.2101G>A (p.Glu701Lys)
|
|
|
NM_012330.4(KAT6B):c.2109T>G (p.Ser703=)
|
|
|
NM_012330.4(KAT6B):c.2115+10G>A
|
|
|
NM_012330.4(KAT6B):c.2116-11C>G
|
|
|
NM_012330.4(KAT6B):c.2116-5G>A
|
|
|
NM_012330.4(KAT6B):c.2124G>C (p.Glu708Asp)
|
|
|
NM_012330.4(KAT6B):c.2134G>T (p.Gly712Trp)
|
|
|
NM_012330.4(KAT6B):c.2152C>T (p.Arg718Trp)
|
rs1842359062
|
|
NM_012330.4(KAT6B):c.2168T>C (p.Ile723Thr)
|
|
|
NM_012330.4(KAT6B):c.2195C>G (p.Thr732Ser)
|
|
|
NM_012330.4(KAT6B):c.2220G>A (p.Gln740=)
|
|
|
NM_012330.4(KAT6B):c.222A>G (p.Pro74=)
|
|
|
NM_012330.4(KAT6B):c.2231+13G>A
|
|
|
NM_012330.4(KAT6B):c.2232-16T>A
|
rs2133796597
|
|
NM_012330.4(KAT6B):c.2232-6dup
|
rs1326976101
|
|
NM_012330.4(KAT6B):c.2238A>C (p.Pro746=)
|
|
|
NM_012330.4(KAT6B):c.2270A>G (p.Tyr757Cys)
|
|
|
NM_012330.4(KAT6B):c.2282A>G (p.Lys761Arg)
|
|
|
NM_012330.4(KAT6B):c.228C>T (p.Asn76=)
|
|
|
NM_012330.4(KAT6B):c.2299C>T (p.His767Tyr)
|
rs1589750251
|
|
NM_012330.4(KAT6B):c.2306A>G (p.Lys769Arg)
|
|
|
NM_012330.4(KAT6B):c.230del (p.Pro77fs)
|
|
|
NM_012330.4(KAT6B):c.2324A>T (p.His775Leu)
|
|
|
NM_012330.4(KAT6B):c.2348G>A (p.Arg783Gln)
|
|
|
NM_012330.4(KAT6B):c.2373+6C>A
|
rs192506542
|
|
NM_012330.4(KAT6B):c.2373+6C>T
|
rs192506542
|
|
NM_012330.4(KAT6B):c.2373+8C>T
|
|
|
NM_012330.4(KAT6B):c.2374-11C>G
|
|
|
NM_012330.4(KAT6B):c.2374-3T>C
|
|
|
NM_012330.4(KAT6B):c.2390G>A (p.Ser797Asn)
|
|
|
NM_012330.4(KAT6B):c.2405A>G (p.Gln802Arg)
|
|
|
NM_012330.4(KAT6B):c.2413T>C (p.Cys805Arg)
|
|
|
NM_012330.4(KAT6B):c.2469A>T (p.Pro823=)
|
|
|
NM_012330.4(KAT6B):c.2490A>G (p.Thr830=)
|
|
|
NM_012330.4(KAT6B):c.2495A>T (p.Asn832Ile)
|
|
|
NM_012330.4(KAT6B):c.2506G>A (p.Gly836Ser)
|
|
|
NM_012330.4(KAT6B):c.2509T>C (p.Cys837Arg)
|
|
|
NM_012330.4(KAT6B):c.2515C>T (p.Leu839=)
|
|
|
NM_012330.4(KAT6B):c.2535+10G>A
|
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NM_012330.4(KAT6B):c.2535+16G>C
|
|
|
NM_012330.4(KAT6B):c.2555A>G (p.Lys852Arg)
|
|
|
NM_012330.4(KAT6B):c.2568C>T (p.Ser856=)
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|
|
NM_012330.4(KAT6B):c.2576T>C (p.Met859Thr)
|
|
|
NM_012330.4(KAT6B):c.2611C>T (p.Arg871Trp)
|
|
|
NM_012330.4(KAT6B):c.2612G>A (p.Arg871Gln)
|
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|
NM_012330.4(KAT6B):c.2615T>G (p.Phe872Cys)
|
|
|
NM_012330.4(KAT6B):c.2630-11T>C
|
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|
NM_012330.4(KAT6B):c.2655C>A (p.Gly885=)
|
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NM_012330.4(KAT6B):c.2666C>G (p.Ser889Cys)
|
|
|
NM_012330.4(KAT6B):c.2676G>A (p.Lys892=)
|
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|
NM_012330.4(KAT6B):c.2686G>A (p.Asp896Asn)
|
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|
NM_012330.4(KAT6B):c.2696G>A (p.Arg899His)
|
|
|
NM_012330.4(KAT6B):c.2717G>A (p.Trp906Ter)
|
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NM_012330.4(KAT6B):c.2724C>T (p.Ser908=)
|
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|
NM_012330.4(KAT6B):c.2725G>A (p.Val909Ile)
|
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|
NM_012330.4(KAT6B):c.2726T>C (p.Val909Ala)
|
|
|
NM_012330.4(KAT6B):c.2727C>T (p.Val909=)
|
rs2134153879
|
|
NM_012330.4(KAT6B):c.2730C>T (p.Ile910=)
|
rs1845330653
|
|
NM_012330.4(KAT6B):c.2742_2743del (p.Tyr915fs)
|
rs2134154014
|
|
NM_012330.4(KAT6B):c.2744A>C (p.Tyr915Ser)
|
|
|
NM_012330.4(KAT6B):c.2744A>G (p.Tyr915Cys)
|
|
|
NM_012330.4(KAT6B):c.2750A>G (p.His917Arg)
|
|
|
NM_012330.4(KAT6B):c.2790G>A (p.Ala930=)
|
|
|
NM_012330.4(KAT6B):c.2790G>T (p.Ala930=)
|
rs765834987
|
|
NM_012330.4(KAT6B):c.279G>C (p.Lys93Asn)
|
|
|
NM_012330.4(KAT6B):c.27T>C (p.Tyr9=)
|
|
|
NM_012330.4(KAT6B):c.2807A>G (p.His936Arg)
|
|
|
NM_012330.4(KAT6B):c.2822C>T (p.Thr941Ile)
|
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|
NM_012330.4(KAT6B):c.2845G>A (p.Asp949Asn)
|
|
|
NM_012330.4(KAT6B):c.2861+15C>G
|
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|
NM_012330.4(KAT6B):c.2861+20G>C
|
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NM_012330.4(KAT6B):c.2861+8C>G
|
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|
NM_012330.4(KAT6B):c.2861G>A (p.Arg954Lys)
|
|
|
NM_012330.4(KAT6B):c.2862-10C>T
|
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|
NM_012330.4(KAT6B):c.2862-11T>C
|
|
|
NM_012330.4(KAT6B):c.2862-13_2862-11del
|
rs768625046
|
|
NM_012330.4(KAT6B):c.2878C>T (p.Arg960Trp)
|
rs147643220
|
|
NM_012330.4(KAT6B):c.2883A>G (p.Glu961=)
|
|
|
NM_012330.4(KAT6B):c.2893T>C (p.Leu965=)
|
|
|
NM_012330.4(KAT6B):c.2901C>T (p.His967=)
|
|
|
NM_012330.4(KAT6B):c.2903T>C (p.Met968Thr)
|
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|
NM_012330.4(KAT6B):c.291A>G (p.Gly97=)
|
|
|
NM_012330.4(KAT6B):c.2920T>C (p.Cys974Arg)
|
|
|
NM_012330.4(KAT6B):c.2925C>T (p.Ser975=)
|
|
|
NM_012330.4(KAT6B):c.292T>A (p.Ser98Thr)
|
|
|
NM_012330.4(KAT6B):c.2931C>T (p.Ala977=)
|
|
|
NM_012330.4(KAT6B):c.2933A>G (p.Asn978Ser)
|
|
|
NM_012330.4(KAT6B):c.293C>T (p.Ser98Leu)
|
|
|
NM_012330.4(KAT6B):c.2950A>T (p.Ser984Cys)
|
|
|
NM_012330.4(KAT6B):c.2963C>A (p.Thr988Asn)
|
|
|
NM_012330.4(KAT6B):c.2968A>G (p.Ile990Val)
|
|
|
NM_012330.4(KAT6B):c.2992T>A (p.Ser998Thr)
|
rs776774212
|
|
NM_012330.4(KAT6B):c.2997A>G (p.Glu999=)
|
|
|
NM_012330.4(KAT6B):c.299A>G (p.Asn100Ser)
|
|
|
NM_012330.4(KAT6B):c.3004_3005insTTAGC (p.Arg1002fs)
|
rs2134159675
|
|
NM_012330.4(KAT6B):c.3021+13T>G
|
|
|
NM_012330.4(KAT6B):c.3021+17T>C
|
|
|
NM_012330.4(KAT6B):c.3021+6G>A
|
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|
NM_012330.4(KAT6B):c.3022-1G>C
|
|
|
NM_012330.4(KAT6B):c.3052T>C (p.Trp1018Arg)
|
|
|
NM_012330.4(KAT6B):c.3056A>G (p.Glu1019Gly)
|
|
|
NM_012330.4(KAT6B):c.3069del (p.Glu1024fs)
|
|
|
NM_012330.4(KAT6B):c.3072A>G (p.Glu1024=)
|
|
|
NM_012330.4(KAT6B):c.308G>T (p.Arg103Leu)
|
|
|
NM_012330.4(KAT6B):c.3102A>G (p.Gln1034=)
|
|
|
NM_012330.4(KAT6B):c.310A>T (p.Asn104Tyr)
|
rs1841861253
|
|
NM_012330.4(KAT6B):c.3128A>G (p.Asn1043Ser)
|
|
|
NM_012330.4(KAT6B):c.3136T>C (p.Leu1046=)
|
|
|
NM_012330.4(KAT6B):c.3146C>T (p.Pro1049Leu)
|
|
|
NM_012330.4(KAT6B):c.3152G>C (p.Ser1051Thr)
|
|
|
NM_012330.4(KAT6B):c.3154_3169del (p.Arg1052fs)
|
rs1057519003
|
|
NM_012330.4(KAT6B):c.3155G>C (p.Arg1052Pro)
|
|
|
NM_012330.4(KAT6B):c.3157C>T (p.Pro1053Ser)
|
|
|
NM_012330.4(KAT6B):c.3165A>C (p.Thr1055=)
|
|
|
NM_012330.4(KAT6B):c.3169dup (p.Glu1057fs)
|
|
|
NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter)
|
rs1554843815
|
|
NM_012330.4(KAT6B):c.3173G>A (p.Arg1058Gln)
|
|
|
NM_012330.4(KAT6B):c.3183G>C (p.Leu1061=)
|
|
|
NM_012330.4(KAT6B):c.318T>C (p.Asp106=)
|
|
|
NM_012330.4(KAT6B):c.3192G>A (p.Leu1064=)
|
|
|
NM_012330.4(KAT6B):c.3210AGA[2] (p.Glu1076del)
|
rs765976563
|
|
NM_012330.4(KAT6B):c.3210AGA[4] (p.Glu1076_Asp1077insGlu)
|
|
|
NM_012330.4(KAT6B):c.3217G>C (p.Glu1073Gln)
|
|
|
NM_012330.4(KAT6B):c.3219GGA[3] (p.Glu1076del)
|
rs776286375
|
|
NM_012330.4(KAT6B):c.3227A>T (p.Glu1076Val)
|
|
|
NM_012330.4(KAT6B):c.3228_3242del (p.Asp1077_Glu1081del)
|
|
|
NM_012330.4(KAT6B):c.3231C>G (p.Asp1077Glu)
|
rs11001247
|
|
NM_012330.4(KAT6B):c.3231_3242del (p.Asp1077_Glu1080del)
|
rs569172957
|
|
NM_012330.4(KAT6B):c.3231_3242dup (p.Glu1080_Glu1081insAspGluGluGlu)
|
|
|
NM_012330.4(KAT6B):c.3234GGA[2] (p.Glu1089del)
|
|
|
NM_012330.4(KAT6B):c.3234_3245del (p.Glu1086_Glu1089del)
|
|
|
NM_012330.4(KAT6B):c.3235G>A (p.Glu1079Lys)
|
|
|
NM_012330.4(KAT6B):c.3237G>A (p.Glu1079=)
|
|
|
NM_012330.4(KAT6B):c.3240GGAAGAAGAGGA[1] (p.Glu1086_Glu1089del)
|
rs201769534
|
|
NM_012330.4(KAT6B):c.3240GGAAGAAGAGGA[3] (p.Glu1086_Glu1089dup)
|
rs201769534
|
|
NM_012330.4(KAT6B):c.3243A>G (p.Glu1081=)
|
|
|
NM_012330.4(KAT6B):c.3249GGA[1] (p.Glu1089del)
|
rs555280405
|
|
NM_012330.4(KAT6B):c.3249_3257del (p.Glu1087_Glu1089del)
|
|
|
NM_012330.4(KAT6B):c.3252G>A (p.Glu1084=)
|
|
|
NM_012330.4(KAT6B):c.3252_3269del (p.Glu1084_Glu1089del)
|
|
|
NM_012330.4(KAT6B):c.3252_3290dup (p.Glu1102_Glu1103insAspGluGluGluGluGluGluGluGluGluGluGluGlu)
|
|
|
NM_012330.4(KAT6B):c.3255AGA[3] (p.Glu1089_Asp1090insGlu)
|
|
|
NM_012330.4(KAT6B):c.3256G>C (p.Glu1086Gln)
|
|
|
NM_012330.4(KAT6B):c.3258A>T (p.Glu1086Asp)
|
|
|
NM_012330.4(KAT6B):c.3258_3266del (p.Glu1087_Glu1089del)
|
|
|
NM_012330.4(KAT6B):c.3261G>A (p.Glu1087=)
|
|
|
NM_012330.4(KAT6B):c.3261_3269del (p.Glu1087_Glu1089del)
|
|
|
NM_012330.4(KAT6B):c.3267_3293dup (p.Glu1098_Glu1099insAspGluGluGluGluGluGluGluGlu)
|
|
|
NM_012330.4(KAT6B):c.3270T>A (p.Asp1090Glu)
|
|
|
NM_012330.4(KAT6B):c.3270_3278del (p.Asp1090_Glu1092del)
|
rs771834072
|
|
NM_012330.4(KAT6B):c.3275A>G (p.Glu1092Gly)
|
|
|
NM_012330.4(KAT6B):c.3279G>A (p.Glu1093=)
|
|
|
NM_012330.4(KAT6B):c.3279G>T (p.Glu1093Asp)
|
|
|
NM_012330.4(KAT6B):c.3279GGAAGAAGA[1] (p.Glu1102_Glu1104del)
|
|
|
NM_012330.4(KAT6B):c.3282A>G (p.Glu1094=)
|
|
|
NM_012330.4(KAT6B):c.3286G>A (p.Glu1096Lys)
|
|
|
NM_012330.4(KAT6B):c.3288_3299del (p.Glu1101_Glu1104del)
|
|
|
NM_012330.4(KAT6B):c.3289GAA[10] (p.Glu1103_Glu1104dup)
|
rs71929101
|
|
NM_012330.4(KAT6B):c.3289GAA[12] (p.Glu1104_Asn1105insGluGluGluGlu)
|
|
|
NM_012330.4(KAT6B):c.3289GAA[4] (p.Glu1101_Glu1104del)
|
|
|
NM_012330.4(KAT6B):c.3289GAA[5] (p.Glu1102_Glu1104del)
|
rs71929101
|
|
NM_012330.4(KAT6B):c.3289GAA[6] (p.Glu1103_Glu1104del)
|
rs71929101
|
|
NM_012330.4(KAT6B):c.3289GAA[7] (p.Glu1104del)
|
rs71929101
|
|
NM_012330.4(KAT6B):c.3289GAA[9] (p.Glu1104dup)
|
rs71929101
|
|
NM_012330.4(KAT6B):c.3291A>G (p.Glu1097=)
|
|
|
NM_012330.4(KAT6B):c.3293_3294insGGATGAAGAGGAGGA (p.Glu1098_Glu1099insAspGluGluGluGlu)
|
|
|
NM_012330.4(KAT6B):c.3294A>G (p.Glu1098=)
|
|
|
NM_012330.4(KAT6B):c.3296A>G (p.Glu1099Gly)
|
|
|
NM_012330.4(KAT6B):c.3296_3297insGGAAGA (p.Glu1104_Asn1105insGluGlu)
|
|
|
NM_012330.4(KAT6B):c.3300A>G (p.Glu1100=)
|
|
|
NM_012330.4(KAT6B):c.3303A>G (p.Glu1101=)
|
|
|
NM_012330.4(KAT6B):c.3310G>A (p.Glu1104Lys)
|
|
|
NM_012330.4(KAT6B):c.3316A>G (p.Ile1106Val)
|
|
|
NM_012330.4(KAT6B):c.3328C>T (p.Pro1110Ser)
|
|
|
NM_012330.4(KAT6B):c.3329C>G (p.Pro1110Arg)
|
|
|
NM_012330.4(KAT6B):c.3330C>T (p.Pro1110=)
|
|
|
NM_012330.4(KAT6B):c.3331C>T (p.Pro1111Ser)
|
|
|
NM_012330.4(KAT6B):c.3334A>G (p.Arg1112Gly)
|
|
|
NM_012330.4(KAT6B):c.3335G>A (p.Arg1112Lys)
|
|
|
NM_012330.4(KAT6B):c.3341C>A (p.Thr1114Lys)
|
|
|
NM_012330.4(KAT6B):c.3341C>T (p.Thr1114Met)
|
rs755451488
|
|
NM_012330.4(KAT6B):c.3351G>A (p.Gln1117=)
|
|
|
NM_012330.4(KAT6B):c.3355G>C (p.Val1119Leu)
|
|
|
NM_012330.4(KAT6B):c.3366G>A (p.Lys1122=)
|
rs1400519520
|
|
NM_012330.4(KAT6B):c.3372+11G>A
|
|
|
NM_012330.4(KAT6B):c.3372+7G>T
|
rs2134170626
|
|
NM_012330.4(KAT6B):c.3373-13G>A
|
|
|
NM_012330.4(KAT6B):c.3373-14G>A
|
|
|
NM_012330.4(KAT6B):c.3373-18G>A
|
|
|
NM_012330.4(KAT6B):c.3373-1G>A
|
|
|
NM_012330.4(KAT6B):c.3373-20A>G
|
|
|
NM_012330.4(KAT6B):c.3376C>A (p.Pro1126Thr)
|
|
|
NM_012330.4(KAT6B):c.3381T>G (p.Phe1127Leu)
|
|
|
NM_012330.4(KAT6B):c.3382G>A (p.Val1128Ile)
|
|
|
NM_012330.4(KAT6B):c.338G>A (p.Arg113Lys)
|
|
|
NM_012330.4(KAT6B):c.3400G>A (p.Gly1134Ser)
|
|
|
NM_012330.4(KAT6B):c.3404G>A (p.Arg1135His)
|
rs138617006
|
|
NM_012330.4(KAT6B):c.3409C>A (p.Arg1137Ser)
|
|
|
NM_012330.4(KAT6B):c.3415A>G (p.Arg1139Gly)
|
|
|
NM_012330.4(KAT6B):c.3428del (p.Ser1143fs)
|
rs1845712748
|
|
NM_012330.4(KAT6B):c.3455C>T (p.Thr1152Met)
|
|
|
NM_012330.4(KAT6B):c.3456G>A (p.Thr1152=)
|
|
|
NM_012330.4(KAT6B):c.3489A>G (p.Ser1163=)
|
rs2134197611
|
|
NM_012330.4(KAT6B):c.3500G>A (p.Arg1167Lys)
|
|
|
NM_012330.4(KAT6B):c.3505A>G (p.Met1169Val)
|
|
|
NM_012330.4(KAT6B):c.3509C>T (p.Pro1170Leu)
|
|
|
NM_012330.4(KAT6B):c.3510A>G (p.Pro1170=)
|
|
|
NM_012330.4(KAT6B):c.3518A>G (p.Glu1173Gly)
|
|
|
NM_012330.4(KAT6B):c.3534T>C (p.Ile1178=)
|
rs2134198072
|
|
NM_012330.4(KAT6B):c.3543G>C (p.Glu1181Asp)
|
|
|
NM_012330.4(KAT6B):c.3562G>A (p.Val1188Ile)
|
|
|
NM_012330.4(KAT6B):c.3581del (p.Gln1194fs)
|
rs1564628365
|
|
NM_012330.4(KAT6B):c.3590del (p.Pro1197fs)
|
|
|
NM_012330.4(KAT6B):c.3594del (p.Lys1199fs)
|
|
|
NM_012330.4(KAT6B):c.3601A>G (p.Arg1201Gly)
|
|
|
NM_012330.4(KAT6B):c.3606_3609del (p.Thr1203fs)
|
rs1589832003
|
|
NM_012330.4(KAT6B):c.361C>T (p.Pro121Ser)
|
|
|
NM_012330.4(KAT6B):c.3623G>A (p.Gly1208Glu)
|
|
|
NM_012330.4(KAT6B):c.3632A>T (p.Asn1211Ile)
|
|
|
NM_012330.4(KAT6B):c.3659G>A (p.Cys1220Tyr)
|
|
|
NM_012330.4(KAT6B):c.3664+14T>A
|
|
|
NM_012330.4(KAT6B):c.3664+18A>G
|
|
|
NM_012330.4(KAT6B):c.3664+1G>A
|
rs1057516033
|
|
NM_012330.4(KAT6B):c.3665-10C>T
|
|
|
NM_012330.4(KAT6B):c.3665-1G>C
|
rs2134232474
|
|
NM_012330.4(KAT6B):c.3665-20G>A
|
|
|
NM_012330.4(KAT6B):c.3665-20del
|
|
|
NM_012330.4(KAT6B):c.3668A>G (p.Asn1223Ser)
|
|
|
NM_012330.4(KAT6B):c.3671T>A (p.Met1224Lys)
|
|
|
NM_012330.4(KAT6B):c.3671T>C (p.Met1224Thr)
|
rs367677006
|
|
NM_012330.4(KAT6B):c.3690C>T (p.Asn1230=)
|
rs2134232667
|
|
NM_012330.4(KAT6B):c.3690_3699del (p.Asn1230fs)
|
|
|
NM_012330.4(KAT6B):c.3694A>G (p.Lys1232Glu)
|
rs762337174
|
|
NM_012330.4(KAT6B):c.3702C>T (p.Gly1234=)
|
|
|
NM_012330.4(KAT6B):c.3704G>A (p.Ser1235Asn)
|
|
|
NM_012330.4(KAT6B):c.3712A>G (p.Asn1238Asp)
|
|
|
NM_012330.4(KAT6B):c.3717C>G (p.Pro1239=)
|
rs147746065
|
|
NM_012330.4(KAT6B):c.3717C>T (p.Pro1239=)
|
rs147746065
|
|
NM_012330.4(KAT6B):c.3730T>C (p.Cys1244Arg)
|
|
|
NM_012330.4(KAT6B):c.3730T>G (p.Cys1244Gly)
|
|
|
NM_012330.4(KAT6B):c.3737A>G (p.Gln1246Arg)
|
|
|
NM_012330.4(KAT6B):c.3761G>A (p.Arg1254His)
|
|
|
NM_012330.4(KAT6B):c.3763G>A (p.Gly1255Ser)
|
|
|
NM_012330.4(KAT6B):c.3763G>C (p.Gly1255Arg)
|
|
|
NM_012330.4(KAT6B):c.3768A>G (p.Leu1256=)
|
|
|
NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs)
|
rs199470470
|
|
NM_012330.4(KAT6B):c.376C>A (p.Leu126Met)
|
|
|
NM_012330.4(KAT6B):c.3770C>G (p.Ser1257Cys)
|
rs1424209939
|
|
NM_012330.4(KAT6B):c.3788_3789del (p.Lys1263fs)
|
rs199470472
|
|
NM_012330.4(KAT6B):c.3802G>T (p.Gly1268Ter)
|
rs199470473
|
|
NM_012330.4(KAT6B):c.3828G>T (p.Pro1276=)
|
|
|
NM_012330.4(KAT6B):c.3834A>G (p.Glu1278=)
|
|
|
NM_012330.4(KAT6B):c.3837A>G (p.Thr1279=)
|
rs766315089
|
|
NM_012330.4(KAT6B):c.3852C>T (p.Asp1284=)
|
|
|
NM_012330.4(KAT6B):c.3855G>T (p.Glu1285Asp)
|
|
|
NM_012330.4(KAT6B):c.3856C>T (p.Gln1286Ter)
|
|
|
NM_012330.4(KAT6B):c.3857del (p.Gln1286fs)
|
rs2134234642
|
|
NM_012330.4(KAT6B):c.3877A>G (p.Lys1293Glu)
|
|
|
NM_012330.4(KAT6B):c.387A>G (p.Ile129Met)
|
|
|
NM_012330.4(KAT6B):c.388G>A (p.Glu130Lys)
|
rs2132074046
|
|
NM_012330.4(KAT6B):c.3892G>T (p.Gly1298Ter)
|
rs199470475
|
|
NM_012330.4(KAT6B):c.3906del (p.Ser1303fs)
|
rs2134234910
|
|
NM_012330.4(KAT6B):c.3918G>A (p.Arg1306=)
|
|
|
NM_012330.4(KAT6B):c.3923AGG[2] (p.Glu1310del)
|
|
|
NM_012330.4(KAT6B):c.3943G>C (p.Gly1315Arg)
|
|
|
NM_012330.4(KAT6B):c.3954G>A (p.Leu1318=)
|
|
|
NM_012330.4(KAT6B):c.395_397dup (p.Tyr132_Leu133insHis)
|
|
|
NM_012330.4(KAT6B):c.3962A>G (p.Gln1321Arg)
|
|
|
NM_012330.4(KAT6B):c.3972C>T (p.Asn1324=)
|
|
|
NM_012330.4(KAT6B):c.3987_3988del (p.Ala1331fs)
|
rs2134235713
|
|
NM_012330.4(KAT6B):c.3992C>G (p.Ala1331Gly)
|
|
|
NM_012330.4(KAT6B):c.3995del (p.Pro1332fs)
|
rs2134235789
|
|
NM_012330.4(KAT6B):c.3997G>A (p.Val1333Ile)
|
|
|
NM_012330.4(KAT6B):c.3998dup (p.Ser1334fs)
|
|
|
NM_012330.4(KAT6B):c.4004C>T (p.Pro1335Leu)
|
|
|
NM_012330.4(KAT6B):c.4006A>G (p.Asn1336Asp)
|
rs2134235938
|
|
NM_012330.4(KAT6B):c.4033GAT[1] (p.Asp1346del)
|
|
|
NM_012330.4(KAT6B):c.4041C>G (p.Leu1347=)
|
|
|
NM_012330.4(KAT6B):c.4051G>C (p.Glu1351Gln)
|
|
|
NM_012330.4(KAT6B):c.4053G>C (p.Glu1351Asp)
|
rs1314906622
|
|
NM_012330.4(KAT6B):c.4062_4064del (p.Glu1368del)
|
rs772530975
|
|
NM_012330.4(KAT6B):c.4065GGA[2] (p.Glu1366_Glu1368del)
|
|
|
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.4065GGA[6] (p.Glu1368dup)
|
rs367634881
|
|
NM_012330.4(KAT6B):c.4068_4085dup (p.Glu1368_Gly1369insGluGluGluGluGluGlu)
|
|
|
NM_012330.4(KAT6B):c.4071G>A (p.Glu1357=)
|
|
|
NM_012330.4(KAT6B):c.4072G>T (p.Glu1358Ter)
|
rs774508465
|
|
NM_012330.4(KAT6B):c.4074G>A (p.Glu1358=)
|
|
|
NM_012330.4(KAT6B):c.4079AAGAGGAAG[2] (p.Glu1366_Glu1368del)
|
rs375513122
|
|
NM_012330.4(KAT6B):c.4079AAGAGGAAG[4] (p.Glu1366_Glu1368dup)
|
rs375513122
|
|
NM_012330.4(KAT6B):c.4079AAGAGGAAG[5] (p.Glu1363_Glu1368dup)
|
rs375513122
|
|
NM_012330.4(KAT6B):c.4086A>G (p.Glu1362=)
|
rs1564631023
|
|
NM_012330.4(KAT6B):c.4089_4092del (p.Glu1364fs)
|
rs1846092532
|
|
NM_012330.4(KAT6B):c.4099G>C (p.Glu1367Gln)
|
|
|
NM_012330.4(KAT6B):c.4101_4103del (p.Glu1368del)
|
rs2134237417
|
|
NM_012330.4(KAT6B):c.4109AAG[3] (p.Glu1373del)
|
rs751483850
|
|
NM_012330.4(KAT6B):c.4109AAG[5] (p.Glu1373dup)
|
rs751483850
|
|
NM_012330.4(KAT6B):c.4113A>G (p.Glu1371=)
|
|
|
NM_012330.4(KAT6B):c.4120GGA[2] (p.Gly1376del)
|
|
|
NM_012330.4(KAT6B):c.4144C>A (p.Pro1382Thr)
|
|
|
NM_012330.4(KAT6B):c.4148A>C (p.Asp1383Ala)
|
rs1846099902
|
|
NM_012330.4(KAT6B):c.4150G>A (p.Gly1384Ser)
|
|
|
NM_012330.4(KAT6B):c.4170A>G (p.Lys1390=)
|
|
|
NM_012330.4(KAT6B):c.4171G>A (p.Glu1391Lys)
|
|
|
NM_012330.4(KAT6B):c.4177C>T (p.Pro1393Ser)
|
|
|
NM_012330.4(KAT6B):c.4190C>G (p.Thr1397Arg)
|
rs201038511
|
|
NM_012330.4(KAT6B):c.4191G>A (p.Thr1397=)
|
|
|
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs)
|
rs199470477
|
|
NM_012330.4(KAT6B):c.4208C>T (p.Ala1403Val)
|
|
|
NM_012330.4(KAT6B):c.4211G>T (p.Arg1404Leu)
|
rs563033366
|
|
NM_012330.4(KAT6B):c.4217A>G (p.Asp1406Gly)
|
|
|
NM_012330.4(KAT6B):c.4230GGA[2] (p.Glu1414del)
|
rs745314195
|
|
NM_012330.4(KAT6B):c.423C>G (p.Ser141Arg)
|
|
|
NM_012330.4(KAT6B):c.4242G>A (p.Glu1414=)
|
|
|
NM_012330.4(KAT6B):c.425C>T (p.Thr142Ile)
|
rs1054836015
|
|
NM_012330.4(KAT6B):c.4279G>T (p.Asp1427Tyr)
|
|
|
NM_012330.4(KAT6B):c.427A>G (p.Thr143Ala)
|
|
|
NM_012330.4(KAT6B):c.4284C>T (p.Asp1428=)
|
|
|
NM_012330.4(KAT6B):c.4285G>A (p.Glu1429Lys)
|
rs1846114839
|
|
NM_012330.4(KAT6B):c.428C>T (p.Thr143Ile)
|
|
|
NM_012330.4(KAT6B):c.4297C>T (p.His1433Tyr)
|
|
|
NM_012330.4(KAT6B):c.4298A>T (p.His1433Leu)
|
rs2134239492
|
|
NM_012330.4(KAT6B):c.431A>C (p.Asn144Thr)
|
|
|
NM_012330.4(KAT6B):c.4357C>T (p.Leu1453=)
|
|
|
NM_012330.4(KAT6B):c.4360_4368delinsAAAAACCAAAA (p.Glu1454fs)
|
rs199470478
|
|
NM_012330.4(KAT6B):c.4372A>G (p.Thr1458Ala)
|
|
|
NM_012330.4(KAT6B):c.4376T>C (p.Phe1459Ser)
|
|
|
NM_012330.4(KAT6B):c.4392_4393delinsAA (p.Gln1465Lys)
|
rs2134240240
|
|
NM_012330.4(KAT6B):c.4397C>G (p.Pro1466Arg)
|
|
|
NM_012330.4(KAT6B):c.4402C>T (p.His1468Tyr)
|
|
|
NM_012330.4(KAT6B):c.4414G>C (p.Glu1472Gln)
|
|
|
NM_012330.4(KAT6B):c.441C>G (p.Ala147=)
|
|
|
NM_012330.4(KAT6B):c.4420T>G (p.Leu1474Val)
|
rs1846124520
|
|
NM_012330.4(KAT6B):c.4423A>G (p.Met1475Val)
|
rs774593261
|
|
NM_012330.4(KAT6B):c.4437C>T (p.Val1479=)
|
|
|
NM_012330.4(KAT6B):c.4438G>C (p.Asp1480His)
|
|
|
NM_012330.4(KAT6B):c.4447G>C (p.Ala1483Pro)
|
|
|
NM_012330.4(KAT6B):c.4461_4470del (p.Ser1487fs)
|
rs2134240789
|
|
NM_012330.4(KAT6B):c.4488T>G (p.Pro1496=)
|
rs2134241045
|
|
NM_012330.4(KAT6B):c.4492G>T (p.Ala1498Ser)
|
|
|
NM_012330.4(KAT6B):c.4495_4496inv (p.Val1499Thr)
|
|
|
NM_012330.4(KAT6B):c.4509C>T (p.Asp1503=)
|
|
|
NM_012330.4(KAT6B):c.4514A>G (p.Glu1505Gly)
|
rs2134241318
|
|
NM_012330.4(KAT6B):c.451C>A (p.Arg151=)
|
|
|
NM_012330.4(KAT6B):c.4526G>A (p.Gly1509Glu)
|
rs2134241407
|
|
NM_012330.4(KAT6B):c.4526_4528del (p.Gly1509del)
|
|
|
NM_012330.4(KAT6B):c.4528G>A (p.Glu1510Lys)
|
|
|
NM_012330.4(KAT6B):c.4528del (p.Glu1510fs)
|
|
|
NM_012330.4(KAT6B):c.4534G>C (p.Ala1512Pro)
|
|
|
NM_012330.4(KAT6B):c.4536A>T (p.Ala1512=)
|
|
|
NM_012330.4(KAT6B):c.4538dup (p.Lys1514fs)
|
rs1846135896
|
|
NM_012330.4(KAT6B):c.4549C>A (p.Gln1517Lys)
|
|
|
NM_012330.4(KAT6B):c.4555A>C (p.Asn1519His)
|
|
|
NM_012330.4(KAT6B):c.4563G>A (p.Lys1521=)
|
|
|
NM_012330.4(KAT6B):c.4566A>G (p.Glu1522=)
|
|
|
NM_012330.4(KAT6B):c.4569C>T (p.Val1523=)
|
rs1390141952
|
|
NM_012330.4(KAT6B):c.4573A>G (p.Thr1525Ala)
|
|
|
NM_012330.4(KAT6B):c.4575A>G (p.Thr1525=)
|
|
|
NM_012330.4(KAT6B):c.457C>T (p.Arg153Ter)
|
rs1564516087
|
|
NM_012330.4(KAT6B):c.4592del (p.Asn1531fs)
|
|
|
NM_012330.4(KAT6B):c.4596A>G (p.Pro1532=)
|
|
|
NM_012330.4(KAT6B):c.4602C>T (p.Thr1534=)
|
|
|
NM_012330.4(KAT6B):c.4609A>G (p.Ile1537Val)
|
|
|
NM_012330.4(KAT6B):c.460C>G (p.Leu154Val)
|
|
|
NM_012330.4(KAT6B):c.4623T>C (p.Thr1541=)
|
|
|
NM_012330.4(KAT6B):c.4632C>G (p.Ala1544=)
|
|
|
NM_012330.4(KAT6B):c.4648C>G (p.Gln1550Glu)
|
|
|
NM_012330.4(KAT6B):c.4657A>T (p.Ser1553Cys)
|
|
|
NM_012330.4(KAT6B):c.4660G>A (p.Glu1554Lys)
|
rs761295315
|
|
NM_012330.4(KAT6B):c.4668C>T (p.Asp1556=)
|
|
|
NM_012330.4(KAT6B):c.4669G>A (p.Asp1557Asn)
|
|
|
NM_012330.4(KAT6B):c.466G>A (p.Ala156Thr)
|
|
|
NM_012330.4(KAT6B):c.4670A>T (p.Asp1557Val)
|
|
|
NM_012330.4(KAT6B):c.467C>T (p.Ala156Val)
|
|
|
NM_012330.4(KAT6B):c.4689C>A (p.Ala1563=)
|
rs766030818
|
|
NM_012330.4(KAT6B):c.4689C>T (p.Ala1563=)
|
|
|
NM_012330.4(KAT6B):c.4690G>A (p.Glu1564Lys)
|
|
|
NM_012330.4(KAT6B):c.4694C>T (p.Thr1565Ile)
|
|
|
NM_012330.4(KAT6B):c.4727C>A (p.Thr1576Asn)
|
|
|
NM_012330.4(KAT6B):c.4727C>G (p.Thr1576Ser)
|
|
|
NM_012330.4(KAT6B):c.4729C>T (p.Arg1577Cys)
|
|
|
NM_012330.4(KAT6B):c.4730G>A (p.Arg1577His)
|
|
|
NM_012330.4(KAT6B):c.4737C>T (p.Asp1579=)
|
|
|
NM_012330.4(KAT6B):c.4739A>G (p.Gln1580Arg)
|
|
|
NM_012330.4(KAT6B):c.474C>T (p.Arg158=)
|
|
|
NM_012330.4(KAT6B):c.4755C>T (p.Ala1585=)
|
|
|
NM_012330.4(KAT6B):c.4758C>G (p.Thr1586=)
|
|
|
NM_012330.4(KAT6B):c.4760C>A (p.Thr1587Lys)
|
|
|
NM_012330.4(KAT6B):c.4762C>T (p.Leu1588Phe)
|
|
|
NM_012330.4(KAT6B):c.4764C>T (p.Leu1588=)
|
|
|
NM_012330.4(KAT6B):c.476C>G (p.Ala159Gly)
|
|
|
NM_012330.4(KAT6B):c.4778A>G (p.Gln1593Arg)
|
|
|
NM_012330.4(KAT6B):c.4783G>A (p.Asp1595Asn)
|
|
|
NM_012330.4(KAT6B):c.4806C>T (p.Ser1602=)
|
|
|
NM_012330.4(KAT6B):c.4812C>T (p.His1604=)
|
|
|
NM_012330.4(KAT6B):c.4816C>T (p.His1606Tyr)
|
|
|
NM_012330.4(KAT6B):c.4828T>C (p.Ser1610Pro)
|
|
|
NM_012330.4(KAT6B):c.4829C>G (p.Ser1610Cys)
|
|
|
NM_012330.4(KAT6B):c.4831G>A (p.Val1611Ile)
|
|
|
NM_012330.4(KAT6B):c.4852A>G (p.Ser1618Gly)
|
rs370040258
|
|
NM_012330.4(KAT6B):c.4861del (p.Ala1621fs)
|
rs1589844592
|
|
NM_012330.4(KAT6B):c.4885A>G (p.Ile1629Val)
|
|
|
NM_012330.4(KAT6B):c.4898A>C (p.Gln1633Pro)
|
|
|
NM_012330.4(KAT6B):c.48T>C (p.Ala16=)
|
|
|
NM_012330.4(KAT6B):c.4908C>T (p.Ile1636=)
|
|
|
NM_012330.4(KAT6B):c.4921C>T (p.Leu1641=)
|
|
|
NM_012330.4(KAT6B):c.4936A>G (p.Thr1646Ala)
|
|
|
NM_012330.4(KAT6B):c.4956C>T (p.Val1652=)
|
|
|
NM_012330.4(KAT6B):c.4977A>G (p.Ser1659=)
|
rs2134245049
|
|
NM_012330.4(KAT6B):c.4987G>A (p.Val1663Ile)
|
rs777433819
|
|
NM_012330.4(KAT6B):c.4989A>G (p.Val1663=)
|
rs1337079744
|
|
NM_012330.4(KAT6B):c.4993A>G (p.Ser1665Gly)
|
rs1589844927
|
|
NM_012330.4(KAT6B):c.4994G>A (p.Ser1665Asn)
|
|
|
NM_012330.4(KAT6B):c.5002A>G (p.Ser1668Gly)
|
|
|
NM_012330.4(KAT6B):c.5040C>T (p.Tyr1680=)
|
|
|
NM_012330.4(KAT6B):c.5052C>T (p.Ser1684=)
|
|
|
NM_012330.4(KAT6B):c.5057A>G (p.Tyr1686Cys)
|
|
|
NM_012330.4(KAT6B):c.5070G>A (p.Met1690Ile)
|
|
|
NM_012330.4(KAT6B):c.5076C>T (p.Gly1692=)
|
|
|
NM_012330.4(KAT6B):c.5083T>A (p.Cys1695Ser)
|
rs1408947850
|
|
NM_012330.4(KAT6B):c.5091C>T (p.Asn1697=)
|
|
|
NM_012330.4(KAT6B):c.5093G>A (p.Gly1698Asp)
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NM_012330.4(KAT6B):c.5095T>G (p.Ser1699Ala)
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NM_012330.4(KAT6B):c.509C>G (p.Pro170Arg)
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NM_012330.4(KAT6B):c.513G>A (p.Gln171=)
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NM_012330.4(KAT6B):c.5146_5147del (p.Gln1716fs)
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NM_012330.4(KAT6B):c.5187C>T (p.Ser1729=)
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NM_012330.4(KAT6B):c.5200_5241dup (p.Ser1747_Val1748insMetLeuGlnGlnThrSerIleSerSerProProThrCysSer)
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NM_012330.4(KAT6B):c.5208G>A (p.Gln1736=)
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NM_012330.4(KAT6B):c.5228C>T (p.Pro1743Leu)
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NM_012330.4(KAT6B):c.5235C>T (p.Thr1745=)
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NM_012330.4(KAT6B):c.5242G>A (p.Val1748Ile)
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NM_012330.4(KAT6B):c.5254C>G (p.Gln1752Glu)
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NM_012330.4(KAT6B):c.5257G>T (p.Gly1753Cys)
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NM_012330.4(KAT6B):c.5260T>G (p.Cys1754Gly)
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rs2134247487
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NM_012330.4(KAT6B):c.5263G>A (p.Val1755Met)
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NM_012330.4(KAT6B):c.527A>G (p.Tyr176Cys)
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NM_012330.4(KAT6B):c.5280G>T (p.Pro1760=)
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NM_012330.4(KAT6B):c.5290C>T (p.Gln1764Ter)
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rs1564632652
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NM_012330.4(KAT6B):c.5298G>A (p.Leu1766=)
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rs2134247976
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NM_012330.4(KAT6B):c.5304G>T (p.Gln1768His)
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NM_012330.4(KAT6B):c.530G>A (p.Gly177Glu)
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rs2132075192
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NM_012330.4(KAT6B):c.5330C>A (p.Pro1777Gln)
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NM_012330.4(KAT6B):c.5333C>G (p.Pro1778Arg)
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NM_012330.4(KAT6B):c.5335A>G (p.Met1779Val)
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NM_012330.4(KAT6B):c.533G>T (p.Ser178Ile)
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NM_012330.4(KAT6B):c.5356G>A (p.Glu1786Lys)
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NM_012330.4(KAT6B):c.5357A>C (p.Glu1786Ala)
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NM_012330.4(KAT6B):c.5367C>T (p.Asn1789=)
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NM_012330.4(KAT6B):c.5371A>G (p.Asn1791Asp)
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NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter)
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rs199470484
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NM_012330.4(KAT6B):c.5409del (p.Phe1803fs)
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rs2134249204
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NM_012330.4(KAT6B):c.5423A>G (p.Tyr1808Cys)
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NM_012330.4(KAT6B):c.5427G>A (p.Pro1809=)
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NM_012330.4(KAT6B):c.5427G>T (p.Pro1809=)
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rs370396484
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NM_012330.4(KAT6B):c.5432C>T (p.Pro1811Leu)
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NM_012330.4(KAT6B):c.5434T>C (p.Ser1812Pro)
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NM_012330.4(KAT6B):c.5454C>G (p.Ala1818=)
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rs1027643241
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NM_012330.4(KAT6B):c.5461C>T (p.Gln1821Ter)
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NM_012330.4(KAT6B):c.5476A>G (p.Thr1826Ala)
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NM_012330.4(KAT6B):c.5488C>T (p.His1830Tyr)
|
rs752572188
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NM_012330.4(KAT6B):c.5493A>G (p.Ser1831=)
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NM_012330.4(KAT6B):c.54G>A (p.Gln18=)
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NM_012330.4(KAT6B):c.5502del (p.Pro1833_Tyr1834insTer)
|
rs1589846743
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NM_012330.4(KAT6B):c.5506C>A (p.His1836Asn)
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NM_012330.4(KAT6B):c.5507A>G (p.His1836Arg)
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NM_012330.4(KAT6B):c.550G>A (p.Ala184Thr)
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NM_012330.4(KAT6B):c.552A>C (p.Ala184=)
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NM_012330.4(KAT6B):c.5547G>T (p.Leu1849Phe)
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NM_012330.4(KAT6B):c.5554C>T (p.Pro1852Ser)
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NM_012330.4(KAT6B):c.5559A>G (p.Leu1853=)
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NM_012330.4(KAT6B):c.5584T>C (p.Ser1862Pro)
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NM_012330.4(KAT6B):c.5602G>A (p.Val1868Ile)
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NM_012330.4(KAT6B):c.5634G>A (p.Met1878Ile)
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NM_012330.4(KAT6B):c.5641C>T (p.Pro1881Ser)
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NM_012330.4(KAT6B):c.5646C>A (p.Pro1882=)
|
rs1846229052
|
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NM_012330.4(KAT6B):c.5665A>G (p.Met1889Val)
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NM_012330.4(KAT6B):c.5676G>A (p.Pro1892=)
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NM_012330.4(KAT6B):c.5693G>A (p.Arg1898Gln)
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NM_012330.4(KAT6B):c.5698A>G (p.Met1900Val)
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NM_012330.4(KAT6B):c.569C>T (p.Ala190Val)
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NM_012330.4(KAT6B):c.5704G>A (p.Ala1902Thr)
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NM_012330.4(KAT6B):c.5706A>G (p.Ala1902=)
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NM_012330.4(KAT6B):c.570A>G (p.Ala190=)
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NM_012330.4(KAT6B):c.5731C>T (p.Gln1911Ter)
|
rs1564633281
|
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NM_012330.4(KAT6B):c.5733A>G (p.Gln1911=)
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NM_012330.4(KAT6B):c.573C>G (p.Phe191Leu)
|
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NM_012330.4(KAT6B):c.5754C>T (p.Ala1918=)
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NM_012330.4(KAT6B):c.577T>C (p.Ser193Pro)
|
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NM_012330.4(KAT6B):c.5784G>A (p.Lys1928=)
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NM_012330.4(KAT6B):c.5788G>A (p.Ala1930Thr)
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NM_012330.4(KAT6B):c.579C>A (p.Ser193=)
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NM_012330.4(KAT6B):c.5805C>T (p.Ala1935=)
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NM_012330.4(KAT6B):c.5806G>A (p.Ala1936Thr)
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NM_012330.4(KAT6B):c.5806G>C (p.Ala1936Pro)
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NM_012330.4(KAT6B):c.5806G>T (p.Ala1936Ser)
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NM_012330.4(KAT6B):c.5813C>T (p.Thr1938Ile)
|
rs376112744
|
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NM_012330.4(KAT6B):c.5818C>G (p.Gln1940Glu)
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NM_012330.4(KAT6B):c.581C>T (p.Ser194Leu)
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NM_012330.4(KAT6B):c.5826A>T (p.Gln1942His)
|
rs2134253644
|
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NM_012330.4(KAT6B):c.582G>A (p.Ser194=)
|
|
|
NM_012330.4(KAT6B):c.5831del (p.Tyr1944fs)
|
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NM_012330.4(KAT6B):c.5866G>A (p.Ala1956Thr)
|
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|
NM_012330.4(KAT6B):c.586C>G (p.Pro196Ala)
|
rs2132075785
|
|
NM_012330.4(KAT6B):c.5870G>A (p.Arg1957Gln)
|
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NM_012330.4(KAT6B):c.5880G>A (p.Thr1960=)
|
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NM_012330.4(KAT6B):c.5899A>G (p.Met1967Val)
|
rs750955934
|
|
NM_012330.4(KAT6B):c.5918C>G (p.Pro1973Arg)
|
|
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NM_012330.4(KAT6B):c.5920G>A (p.Ala1974Thr)
|
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NM_012330.4(KAT6B):c.592G>C (p.Val198Leu)
|
|
|
NM_012330.4(KAT6B):c.5949C>A (p.Asn1983Lys)
|
rs745470061
|
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NM_012330.4(KAT6B):c.5949C>T (p.Asn1983=)
|
|
|
NM_012330.4(KAT6B):c.5950A>G (p.Met1984Val)
|
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|
NM_012330.4(KAT6B):c.5984A>C (p.Tyr1995Ser)
|
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NM_012330.4(KAT6B):c.5987G>A (p.Ser1996Asn)
|
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|
NM_012330.4(KAT6B):c.5992T>C (p.Ser1998Pro)
|
|
|
NM_012330.4(KAT6B):c.6001A>G (p.Met2001Val)
|
|
|
NM_012330.4(KAT6B):c.6018C>T (p.Tyr2006=)
|
|
|
NM_012330.4(KAT6B):c.6037A>G (p.Met2013Val)
|
rs1846270592
|
|
NM_012330.4(KAT6B):c.6041A>G (p.Asn2014Ser)
|
|
|
NM_012330.4(KAT6B):c.6058C>G (p.Pro2020Ala)
|
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|
NM_012330.4(KAT6B):c.6061A>T (p.Met2021Leu)
|
|
|
NM_012330.4(KAT6B):c.6072G>T (p.Gln2024His)
|
|
|
NM_012330.4(KAT6B):c.6076G>T (p.Gly2026Cys)
|
|
|
NM_012330.4(KAT6B):c.6079A>G (p.Met2027Val)
|
rs1564633848
|
|
NM_012330.4(KAT6B):c.6086G>A (p.Gly2029Asp)
|
|
|
NM_012330.4(KAT6B):c.6109C>A (p.Pro2037Thr)
|
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|
NM_012330.4(KAT6B):c.6112A>G (p.Met2038Val)
|
|
|
NM_012330.4(KAT6B):c.6130G>A (p.Gly2044Ser)
|
|
|
NM_012330.4(KAT6B):c.6141G>A (p.Met2047Ile)
|
|
|
NM_012330.4(KAT6B):c.6149C>T (p.Ala2050Val)
|
|
|
NM_012330.4(KAT6B):c.6152C>G (p.Pro2051Arg)
|
|
|
NM_012330.4(KAT6B):c.6154G>A (p.Gly2052Arg)
|
|
|
NM_012330.4(KAT6B):c.6167A>G (p.Tyr2056Cys)
|
|
|
NM_012330.4(KAT6B):c.6172A>G (p.Asn2058Asp)
|
|
|
NM_012330.4(KAT6B):c.6186C>G (p.Ser2062=)
|
|
|
NM_012330.4(KAT6B):c.6196C>G (p.Leu2066Val)
|
rs901914485
|
|
NM_012330.4(KAT6B):c.6198C>T (p.Leu2066=)
|
|
|
NM_012330.4(KAT6B):c.6200A>G (p.Asn2067Ser)
|
|
|
NM_012330.4(KAT6B):c.621+17T>C
|
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|
NM_012330.4(KAT6B):c.621+7G>A
|
|
|
NM_012330.4(KAT6B):c.622-53842A>G
|
rs2132837198
|
|
NM_012330.4(KAT6B):c.622-7G>A
|
rs751195432
|
|
NM_012330.4(KAT6B):c.6221A>G (p.Ter2074Trp)
|
|
|
NM_012330.4(KAT6B):c.622C>T (p.Pro208Ser)
|
|
|
NM_012330.4(KAT6B):c.625C>G (p.Arg209Gly)
|
|
|
NM_012330.4(KAT6B):c.626G>A (p.Arg209His)
|
|
|
NM_012330.4(KAT6B):c.628G>A (p.Ala210Thr)
|
|
|
NM_012330.4(KAT6B):c.643A>G (p.Ile215Val)
|
rs2133519678
|
|
NM_012330.4(KAT6B):c.658T>C (p.Leu220=)
|
|
|
NM_012330.4(KAT6B):c.66G>A (p.Lys22=)
|
rs748479485
|
|
NM_012330.4(KAT6B):c.673T>G (p.Ser225Ala)
|
|
|
NM_012330.4(KAT6B):c.680G>A (p.Arg227His)
|
|
|
NM_012330.4(KAT6B):c.709_710delinsGT (p.Cys237Val)
|
|
|
NM_012330.4(KAT6B):c.728G>A (p.Ser243Asn)
|
|
|
NM_012330.4(KAT6B):c.730+15T>C
|
rs2133520898
|
|
NM_012330.4(KAT6B):c.730+19A>G
|
|
|
NM_012330.4(KAT6B):c.731-11del
|
rs772911843
|
|
NM_012330.4(KAT6B):c.731-14T>C
|
|
|
NM_012330.4(KAT6B):c.731-4A>G
|
rs1342415990
|
|
NM_012330.4(KAT6B):c.735C>T (p.His245=)
|
|
|
NM_012330.4(KAT6B):c.741C>T (p.Ser247=)
|
|
|
NM_012330.4(KAT6B):c.758C>T (p.Pro253Leu)
|
|
|
NM_012330.4(KAT6B):c.768A>G (p.Thr256=)
|
|
|
NM_012330.4(KAT6B):c.774T>C (p.Asn258=)
|
|
|
NM_012330.4(KAT6B):c.779A>G (p.Lys260Arg)
|
|
|
NM_012330.4(KAT6B):c.781G>A (p.Ala261Thr)
|
|
|
NM_012330.4(KAT6B):c.788G>T (p.Arg263Met)
|
|
|
NM_012330.4(KAT6B):c.799A>G (p.Ile267Val)
|
|
|
NM_012330.4(KAT6B):c.801C>A (p.Ile267=)
|
|
|
NM_012330.4(KAT6B):c.817A>G (p.Ser273Gly)
|
|
|
NM_012330.4(KAT6B):c.840A>C (p.Arg280Ser)
|
|
|
NM_012330.4(KAT6B):c.846+10G>T
|
|
|
NM_012330.4(KAT6B):c.846+14C>T
|
|
|
NM_012330.4(KAT6B):c.846T>C (p.Ala282=)
|
|
|
NM_012330.4(KAT6B):c.847-18T>C
|
|
|
NM_012330.4(KAT6B):c.848A>G (p.Asp283Gly)
|
|
|
NM_012330.4(KAT6B):c.869C>G (p.Ser290Cys)
|
|
|
NM_012330.4(KAT6B):c.881G>A (p.Gly294Glu)
|
|
|
NM_012330.4(KAT6B):c.894A>G (p.Glu298=)
|
|
|
NM_012330.4(KAT6B):c.928+1G>T
|
|
|
NM_012330.4(KAT6B):c.928+21_928+26del
|
|
|
NM_012330.4(KAT6B):c.928+6C>G
|
|
|
NM_012330.4(KAT6B):c.929-10A>G
|
|
|
NM_012330.4(KAT6B):c.929-16A>G
|
|
|
NM_012330.4(KAT6B):c.929-18AT[6]
|
|
|
NM_012330.4(KAT6B):c.930G>T (p.Gly310=)
|
|
|
NM_012330.4(KAT6B):c.933G>C (p.Met311Ile)
|
|
|
NM_012330.4(KAT6B):c.978A>C (p.Leu326=)
|
|
|
NM_012330.4(KAT6B):c.999A>G (p.Gln333=)
|
|
|