NM_006766.5(KAT6A):c.3192G>A (p.Thr1064=)
|
rs13748
|
0.28848
|
NM_006766.5(KAT6A):c.1902+20G>A
|
rs10504048
|
0.22683
|
NM_006766.5(KAT6A):c.*185C>G
|
rs1050991
|
0.16955
|
NM_006766.5(KAT6A):c.1043+233C>T
|
rs56706985
|
0.10771
|
NM_006766.5(KAT6A):c.-325-129A>G
|
rs78262152
|
0.09898
|
NM_006766.5(KAT6A):c.401T>C (p.Leu134Ser)
|
rs3824276
|
0.09866
|
NM_006766.5(KAT6A):c.2982G>A (p.Pro994=)
|
rs3824275
|
0.09852
|
NM_006766.5(KAT6A):c.4455C>T (p.Ser1485=)
|
rs3739365
|
0.09784
|
NM_006766.5(KAT6A):c.1996+62G>A
|
rs2980902
|
0.08948
|
NM_006766.5(KAT6A):c.1902+96T>G
|
rs56131485
|
0.08370
|
NM_006766.5(KAT6A):c.1044-57A>G
|
rs34473679
|
0.08033
|
NM_006766.5(KAT6A):c.1996+100A>G
|
rs62508251
|
0.05761
|
NM_006766.5(KAT6A):c.4872C>G (p.Val1624=)
|
rs2980901
|
0.03759
|
NM_006766.5(KAT6A):c.1902+268G>C
|
rs73628539
|
0.03080
|
NM_006766.5(KAT6A):c.709+330A>C
|
rs116883647
|
0.02863
|
NM_006766.5(KAT6A):c.4914C>T (p.Cys1638=)
|
rs61740920
|
0.02661
|
NM_006766.5(KAT6A):c.3039+30C>T
|
rs72640388
|
0.02358
|
NM_006766.5(KAT6A):c.600+283T>A
|
rs6997392
|
0.02303
|
NM_006766.5(KAT6A):c.2694A>G (p.Gln898=)
|
rs16890946
|
0.01679
|
NM_006766.5(KAT6A):c.3577G>A (p.Val1193Ile)
|
rs34620183
|
0.00973
|
NM_006766.5(KAT6A):c.-192G>C
|
rs114254134
|
0.00904
|
NM_006766.5(KAT6A):c.1599-8G>A
|
rs12114658
|
0.00898
|
NM_006766.5(KAT6A):c.710-215G>A
|
rs115005779
|
0.00898
|
NM_006766.5(KAT6A):c.601-183C>T
|
rs144082649
|
0.00895
|
NM_006766.5(KAT6A):c.-17A>G
|
rs141360124
|
0.00878
|
NM_006766.5(KAT6A):c.1044-280C>T
|
rs139919200
|
0.00871
|
NM_006766.5(KAT6A):c.4324G>A (p.Ala1442Thr)
|
rs113195648
|
0.00745
|
NM_006766.5(KAT6A):c.3040-83A>G
|
rs140066687
|
0.00715
|
NM_006766.5(KAT6A):c.1363+65T>C
|
rs147305025
|
0.00685
|
NM_006766.5(KAT6A):c.1996+278T>G
|
rs141380756
|
0.00665
|
NM_006766.5(KAT6A):c.2437-267A>G
|
rs6998779
|
0.00577
|
NM_006766.5(KAT6A):c.5379G>A (p.Gln1793=)
|
rs34566148
|
0.00553
|
NM_006766.5(KAT6A):c.2487A>G (p.Val829=)
|
rs10104089
|
0.00516
|
NM_006766.5(KAT6A):c.1599-9C>T
|
rs74337152
|
0.00424
|
NM_006766.5(KAT6A):c.5913C>T (p.Asn1971=)
|
rs140266175
|
0.00370
|
NM_006766.5(KAT6A):c.1741-182A>C
|
rs188459104
|
0.00369
|
NM_006766.5(KAT6A):c.1477C>T (p.Leu493=)
|
rs61753684
|
0.00201
|
NM_006766.5(KAT6A):c.4146G>A (p.Thr1382=)
|
rs75346307
|
0.00173
|
NM_006766.5(KAT6A):c.4952C>T (p.Pro1651Leu)
|
rs144417514
|
0.00145
|
NM_006766.5(KAT6A):c.5994C>T (p.Asn1998=)
|
rs117270099
|
0.00124
|
NM_006766.5(KAT6A):c.336G>C (p.Glu112Asp)
|
rs138399992
|
0.00121
|
NM_006766.5(KAT6A):c.5259A>G (p.Leu1753=)
|
rs148308447
|
0.00117
|
NM_006766.5(KAT6A):c.1134A>G (p.Ser378=)
|
rs147952562
|
0.00081
|
NM_006766.5(KAT6A):c.5526G>A (p.Thr1842=)
|
rs146496080
|
0.00081
|
NM_006766.5(KAT6A):c.1029G>T (p.Lys343Asn)
|
rs35529154
|
0.00068
|
NM_006766.5(KAT6A):c.3561C>T (p.Cys1187=)
|
rs368311389
|
0.00059
|
NM_006766.5(KAT6A):c.1741-10A>G
|
rs189761822
|
0.00058
|
NM_006766.5(KAT6A):c.5967T>C (p.Ala1989=)
|
rs143452263
|
0.00056
|
NM_006766.5(KAT6A):c.4956A>G (p.Pro1652=)
|
rs201475966
|
0.00046
|
NM_006766.5(KAT6A):c.2226C>T (p.Asp742=)
|
rs143212958
|
0.00039
|
NM_006766.5(KAT6A):c.2373A>C (p.Glu791Asp)
|
rs201345009
|
0.00038
|
NM_006766.5(KAT6A):c.1185T>G (p.Asp395Glu)
|
rs111806051
|
0.00036
|
NM_006766.5(KAT6A):c.1996+50G>C
|
rs775134756
|
0.00036
|
NM_006766.5(KAT6A):c.5241A>G (p.Pro1747=)
|
rs140894504
|
0.00036
|
NM_006766.5(KAT6A):c.3660C>T (p.Pro1220=)
|
rs113809048
|
0.00034
|
NM_006766.5(KAT6A):c.1364-11T>C
|
rs1475008472
|
0.00032
|
NM_006766.5(KAT6A):c.3242C>G (p.Pro1081Arg)
|
rs143819823
|
0.00031
|
NM_006766.5(KAT6A):c.3353-31C>A
|
rs376952242
|
0.00030
|
NM_006766.5(KAT6A):c.1482+6G>A
|
rs372494190
|
0.00026
|
NM_006766.5(KAT6A):c.1599-10T>C
|
rs144973262
|
0.00026
|
NM_006766.5(KAT6A):c.5036C>T (p.Pro1679Leu)
|
rs552834605
|
0.00026
|
NM_006766.5(KAT6A):c.2533C>T (p.Arg845Cys)
|
rs145797427
|
0.00024
|
NM_006766.5(KAT6A):c.3392G>A (p.Arg1131His)
|
rs141610909
|
0.00024
|
NM_006766.5(KAT6A):c.3440A>T (p.Lys1147Ile)
|
rs545152883
|
0.00023
|
NM_006766.5(KAT6A):c.4611C>T (p.Ser1537=)
|
rs200721745
|
0.00023
|
NM_006766.5(KAT6A):c.4779G>A (p.Ser1593=)
|
rs149912064
|
0.00022
|
NM_006766.5(KAT6A):c.1157G>A (p.Arg386Gln)
|
rs140780968
|
0.00020
|
NM_006766.5(KAT6A):c.1996+48C>G
|
rs530894531
|
0.00019
|
NM_006766.5(KAT6A):c.3855G>T (p.Gln1285His)
|
rs112277492
|
0.00019
|
NM_006766.5(KAT6A):c.5730T>C (p.Asn1910=)
|
rs144084994
|
0.00017
|
NM_006766.5(KAT6A):c.5185A>T (p.Ile1729Leu)
|
rs140560177
|
0.00015
|
NM_006766.5(KAT6A):c.4149C>T (p.Ser1383=)
|
rs35760242
|
0.00014
|
NM_006766.5(KAT6A):c.5597C>G (p.Ser1866Cys)
|
rs181712540
|
0.00014
|
NM_006766.5(KAT6A):c.600+5G>T
|
rs138578452
|
0.00014
|
NM_006766.5(KAT6A):c.603G>A (p.Pro201=)
|
rs148925079
|
0.00014
|
NM_006766.5(KAT6A):c.1996+49T>C
|
rs760439362
|
0.00013
|
NM_006766.5(KAT6A):c.3352+20C>T
|
rs374072283
|
0.00011
|
NM_006766.5(KAT6A):c.4119C>T (p.Ser1373=)
|
rs747714674
|
0.00011
|
NM_006766.5(KAT6A):c.2633G>A (p.Arg878His)
|
rs139942484
|
0.00010
|
NM_006766.5(KAT6A):c.3764C>G (p.Ala1255Gly)
|
rs373190705
|
0.00010
|
NM_006766.5(KAT6A):c.5740A>G (p.Met1914Val)
|
rs750315709
|
0.00010
|
NM_006766.5(KAT6A):c.4707C>T (p.Tyr1569=)
|
rs144938298
|
0.00009
|
NM_006766.5(KAT6A):c.3040-9A>G
|
rs369451043
|
0.00008
|
NM_006766.5(KAT6A):c.5494A>G (p.Met1832Val)
|
rs781560944
|
0.00008
|
NM_006766.5(KAT6A):c.2517T>C (p.Ala839=)
|
rs141724678
|
0.00006
|
NM_006766.5(KAT6A):c.3256C>T (p.Arg1086Cys)
|
rs61753683
|
0.00006
|
NM_006766.5(KAT6A):c.1010G>A (p.Arg337His)
|
rs570988959
|
0.00005
|
NM_006766.5(KAT6A):c.2672C>T (p.Thr891Met)
|
rs575371774
|
0.00005
|
NM_006766.5(KAT6A):c.3833G>A (p.Arg1278His)
|
rs547730885
|
0.00005
|
NM_006766.5(KAT6A):c.1065A>T (p.Lys355Asn)
|
rs140126559
|
0.00004
|
NM_006766.5(KAT6A):c.1603C>T (p.Pro535Ser)
|
rs753999434
|
0.00004
|
NM_006766.5(KAT6A):c.2986A>G (p.Ser996Gly)
|
rs183255462
|
0.00004
|
NM_006766.5(KAT6A):c.4182C>T (p.Asp1394=)
|
rs150230451
|
0.00004
|
NM_006766.5(KAT6A):c.4394A>G (p.Asp1465Gly)
|
rs201853658
|
0.00004
|
NM_006766.5(KAT6A):c.5585C>T (p.Ala1862Val)
|
rs759267222
|
0.00004
|
NM_006766.5(KAT6A):c.5586G>A (p.Ala1862=)
|
rs199854130
|
0.00004
|
NM_006766.5(KAT6A):c.2241C>A (p.Ile747=)
|
rs747658625
|
0.00003
|
NM_006766.5(KAT6A):c.4150G>A (p.Val1384Met)
|
rs752818339
|
0.00003
|
NM_006766.5(KAT6A):c.4222G>A (p.Glu1408Lys)
|
rs771962304
|
0.00003
|
NM_006766.5(KAT6A):c.4982C>T (p.Pro1661Leu)
|
rs544240461
|
0.00003
|
NM_006766.5(KAT6A):c.502C>T (p.Arg168Trp)
|
rs369777293
|
0.00003
|
NM_006766.5(KAT6A):c.5339A>G (p.Tyr1780Cys)
|
rs61753681
|
0.00003
|
NM_006766.5(KAT6A):c.3989A>G (p.Lys1330Arg)
|
rs746406926
|
0.00002
|
NM_006766.5(KAT6A):c.4722C>T (p.Gly1574=)
|
rs778163959
|
0.00002
|
NM_006766.5(KAT6A):c.1364-9T>A
|
rs75568702
|
0.00001
|
NM_006766.5(KAT6A):c.2505A>G (p.Pro835=)
|
rs539733080
|
0.00001
|
NM_006766.5(KAT6A):c.3010A>G (p.Ile1004Val)
|
rs560767148
|
0.00001
|
NM_006766.5(KAT6A):c.3936C>T (p.Asp1312=)
|
rs755916373
|
0.00001
|
NM_006766.5(KAT6A):c.458G>A (p.Arg153His)
|
rs770241643
|
0.00001
|
NM_006766.5(KAT6A):c.4804A>G (p.Ser1602Gly)
|
rs369072402
|
0.00001
|
NM_006766.5(KAT6A):c.523A>G (p.Asn175Asp)
|
rs1237996435
|
0.00001
|
NM_006766.5(KAT6A):c.5666G>A (p.Arg1889His)
|
rs1342950357
|
0.00001
|
NM_006766.5(KAT6A):c.5683C>T (p.Arg1895Cys)
|
rs773302173
|
0.00001
|
NM_006766.5(KAT6A):c.5776C>G (p.Arg1926Gly)
|
rs900174205
|
0.00001
|
NM_006766.5(KAT6A):c.5809C>T (p.His1937Tyr)
|
rs1821595441
|
0.00001
|
NM_006766.5(KAT6A):c.648A>G (p.Lys216=)
|
rs764533676
|
0.00001
|
NM_006766.5(KAT6A):c.-199T>A
|
rs7006698
|
|
NM_006766.5(KAT6A):c.-2C>T
|
rs750971344
|
|
NM_006766.5(KAT6A):c.1044-180G>T
|
rs143119525
|
|
NM_006766.5(KAT6A):c.1085_1089dup (p.Arg364fs)
|
rs1554688570
|
|
NM_006766.5(KAT6A):c.1096C>T (p.Arg366Ter)
|
rs1564034820
|
|
NM_006766.5(KAT6A):c.1102A>G (p.Ile368Val)
|
|
|
NM_006766.5(KAT6A):c.1115G>T (p.Ser372Ile)
|
|
|
NM_006766.5(KAT6A):c.1139AAG[1] (p.Glu381del)
|
|
|
NM_006766.5(KAT6A):c.1176del (p.Cys393fs)
|
rs1554688473
|
|
NM_006766.5(KAT6A):c.1212G>C (p.Lys404Asn)
|
rs1824096489
|
|
NM_006766.5(KAT6A):c.1228A>G (p.Ile410Val)
|
|
|
NM_006766.5(KAT6A):c.1280G>T (p.Arg427Leu)
|
rs1131691878
|
|
NM_006766.5(KAT6A):c.1405C>T (p.Arg469Ter)
|
rs2150884950
|
|
NM_006766.5(KAT6A):c.1433C>T (p.Thr478Ile)
|
rs1554688023
|
|
NM_006766.5(KAT6A):c.1445T>A (p.Met482Lys)
|
rs138707191
|
|
NM_006766.5(KAT6A):c.1445T>G (p.Met482Arg)
|
rs138707191
|
|
NM_006766.5(KAT6A):c.1453T>C (p.Phe485Leu)
|
|
|
NM_006766.5(KAT6A):c.1473_1476dup (p.Leu493fs)
|
rs1587767856
|
|
NM_006766.5(KAT6A):c.1482+238dup
|
rs371228495
|
|
NM_006766.5(KAT6A):c.1536dup (p.Glu513Ter)
|
rs886041809
|
|
NM_006766.5(KAT6A):c.1550_1555dup (p.Glu518_Ile519insAsnGlu)
|
|
|
NM_006766.5(KAT6A):c.1598+263dup
|
rs71239085
|
|
NM_006766.5(KAT6A):c.1740+294ATG[10]
|
rs34721456
|
|
NM_006766.5(KAT6A):c.1740+294ATG[11]
|
rs34721456
|
|
NM_006766.5(KAT6A):c.1740+294ATG[12]
|
rs34721456
|
|
NM_006766.5(KAT6A):c.1740+294ATG[8]
|
rs34721456
|
|
NM_006766.5(KAT6A):c.1764T>G (p.Ile588Met)
|
|
|
NM_006766.5(KAT6A):c.1885G>A (p.Val629Ile)
|
|
|
NM_006766.5(KAT6A):c.1903-206C>T
|
rs77695125
|
|
NM_006766.5(KAT6A):c.1903G>A (p.Glu635Lys)
|
|
|
NM_006766.5(KAT6A):c.1996+50GT[22]
|
rs60247515
|
|
NM_006766.5(KAT6A):c.1996+50GT[23]
|
rs60247515
|
|
NM_006766.5(KAT6A):c.1996+50GT[25]
|
rs60247515
|
|
NM_006766.5(KAT6A):c.1996+61_1996+62insTA
|
rs139721599
|
|
NM_006766.5(KAT6A):c.1996+61_1996+62insTGTA
|
rs1554682544
|
|
NM_006766.5(KAT6A):c.1996+61_1996+62insTGTGTGTA
|
rs1554682547
|
|
NM_006766.5(KAT6A):c.1996+88_1996+99del
|
rs377660286
|
|
NM_006766.5(KAT6A):c.1996+90_1996+101del
|
rs747120706
|
|
NM_006766.5(KAT6A):c.1996+90_1996+99del
|
rs71239084
|
|
NM_006766.5(KAT6A):c.1996+92_1996+101del
|
rs752582094
|
|
NM_006766.5(KAT6A):c.1996+94_1996+101del
|
rs535745252
|
|
NM_006766.5(KAT6A):c.1996+94_1996+99del
|
rs869046491
|
|
NM_006766.5(KAT6A):c.1996+98A>G
|
rs2929898
|
|
NM_006766.5(KAT6A):c.2004G>C (p.Leu668Phe)
|
rs2150863583
|
|
NM_006766.5(KAT6A):c.2008T>C (p.Ser670Pro)
|
rs2150863577
|
|
NM_006766.5(KAT6A):c.2021G>A (p.Gly674Asp)
|
|
|
NM_006766.5(KAT6A):c.2140AAG[1] (p.Lys715del)
|
rs1554682073
|
|
NM_006766.5(KAT6A):c.2170C>T (p.Pro724Ser)
|
|
|
NM_006766.5(KAT6A):c.2258T>C (p.Ile753Thr)
|
|
|
NM_006766.5(KAT6A):c.2266C>T (p.His756Tyr)
|
|
|
NM_006766.5(KAT6A):c.2272G>A (p.Ala758Thr)
|
|
|
NM_006766.5(KAT6A):c.2366A>G (p.Glu789Gly)
|
rs1017972143
|
|
NM_006766.5(KAT6A):c.2422G>A (p.Glu808Lys)
|
rs2150862750
|
|
NM_006766.5(KAT6A):c.2437-318T>C
|
rs12543801
|
|
NM_006766.5(KAT6A):c.2437-3C>G
|
rs1057524340
|
|
NM_006766.5(KAT6A):c.247C>T (p.Pro83Ser)
|
rs1057518385
|
|
NM_006766.5(KAT6A):c.248C>G (p.Pro83Arg)
|
rs2150932905
|
|
NM_006766.5(KAT6A):c.2496A>G (p.Glu832=)
|
rs2150861827
|
|
NM_006766.5(KAT6A):c.2498A>G (p.Lys833Arg)
|
rs1822125326
|
|
NM_006766.5(KAT6A):c.250A>G (p.Lys84Glu)
|
rs1224203245
|
|
NM_006766.5(KAT6A):c.2627A>C (p.Gln876Pro)
|
rs537857698
|
|
NM_006766.5(KAT6A):c.2806C>A (p.Pro936Thr)
|
rs367785766
|
|
NM_006766.5(KAT6A):c.2809A>G (p.Lys937Glu)
|
|
|
NM_006766.5(KAT6A):c.2864C>T (p.Pro955Leu)
|
rs761588463
|
|
NM_006766.5(KAT6A):c.2896A>G (p.Ser966Gly)
|
|
|
NM_006766.5(KAT6A):c.2965GAG[4] (p.Glu993del)
|
rs139076845
|
|
NM_006766.5(KAT6A):c.3032A>C (p.Lys1011Thr)
|
rs1822080060
|
|
NM_006766.5(KAT6A):c.3039+158C>A
|
rs2929896
|
|
NM_006766.5(KAT6A):c.3039+1del
|
rs1554681385
|
|
NM_006766.5(KAT6A):c.3040-8T>C
|
rs1472003509
|
|
NM_006766.5(KAT6A):c.304C>G (p.Leu102Val)
|
rs1164383666
|
|
NM_006766.5(KAT6A):c.3055C>T (p.Arg1019Ter)
|
rs1554680902
|
|
NM_006766.5(KAT6A):c.3065G>C (p.Arg1022Thr)
|
|
|
NM_006766.5(KAT6A):c.3070C>T (p.Arg1024Ter)
|
rs786200961
|
|
NM_006766.5(KAT6A):c.3182T>G (p.Leu1061Ter)
|
rs886041825
|
|
NM_006766.5(KAT6A):c.3184G>T (p.Glu1062Ter)
|
rs1554680840
|
|
NM_006766.5(KAT6A):c.3187C>T (p.Pro1063Ser)
|
rs1821908148
|
|
NM_006766.5(KAT6A):c.3212A>C (p.Glu1071Ala)
|
rs1131691516
|
|
NM_006766.5(KAT6A):c.3225T>C (p.Asp1075=)
|
rs1564007788
|
|
NM_006766.5(KAT6A):c.3230del (p.Asn1077fs)
|
rs2150858815
|
|
NM_006766.5(KAT6A):c.3264G>T (p.Leu1088Phe)
|
rs978156504
|
|
NM_006766.5(KAT6A):c.3321AGA[2] (p.Glu1109del)
|
rs3837198
|
|
NM_006766.5(KAT6A):c.3327A>T (p.Glu1109Asp)
|
|
|
NM_006766.5(KAT6A):c.3348_3349dup (p.Asp1117fs)
|
|
|
NM_006766.5(KAT6A):c.3353-1G>A
|
rs1351334408
|
|
NM_006766.5(KAT6A):c.3353-3_3353dup
|
rs1554680316
|
|
NM_006766.5(KAT6A):c.3412del (p.Glu1139fs)
|
rs1554680267
|
|
NM_006766.5(KAT6A):c.3432dup (p.Pro1145fs)
|
rs886041731
|
|
NM_006766.5(KAT6A):c.3505C>T (p.Arg1169Ter)
|
rs886042000
|
|
NM_006766.5(KAT6A):c.3553C>T (p.Gln1185Ter)
|
rs374290942
|
|
NM_006766.5(KAT6A):c.3576C>T (p.Ile1192=)
|
rs61753682
|
|
NM_006766.5(KAT6A):c.3614A>G (p.Gln1205Arg)
|
|
|
NM_006766.5(KAT6A):c.3661G>T (p.Glu1221Ter)
|
rs139494583
|
|
NM_006766.5(KAT6A):c.3670_3675del (p.Lys1224_Glu1225del)
|
rs1821752448
|
|
NM_006766.5(KAT6A):c.3780del (p.Pro1261fs)
|
rs1554680115
|
|
NM_006766.5(KAT6A):c.3781C>T (p.Pro1261Ser)
|
|
|
NM_006766.5(KAT6A):c.3782del (p.Pro1261fs)
|
rs1554680113
|
|
NM_006766.5(KAT6A):c.3830_3831insTT (p.Arg1278fs)
|
rs786200955
|
|
NM_006766.5(KAT6A):c.3859GAG[2] (p.Glu1289del)
|
rs747034971
|
|
NM_006766.5(KAT6A):c.4025del (p.Lys1342fs)
|
rs1064793955
|
|
NM_006766.5(KAT6A):c.4037del (p.Gly1346fs)
|
rs1587709269
|
|
NM_006766.5(KAT6A):c.4038del (p.Val1347fs)
|
rs1564005155
|
|
NM_006766.5(KAT6A):c.406G>A (p.Gly136Arg)
|
rs1471098185
|
|
NM_006766.5(KAT6A):c.4108G>T (p.Glu1370Ter)
|
rs138944476
|
|
NM_006766.5(KAT6A):c.4138C>T (p.His1380Tyr)
|
|
|
NM_006766.5(KAT6A):c.4139A>G (p.His1380Arg)
|
|
|
NM_006766.5(KAT6A):c.4188C>G (p.His1396Gln)
|
rs780955932
|
|
NM_006766.5(KAT6A):c.4210dup (p.Glu1404fs)
|
rs1057518543
|
|
NM_006766.5(KAT6A):c.4228_4232del (p.Lys1410fs)
|
rs1554679889
|
|
NM_006766.5(KAT6A):c.4233GGA[1] (p.Glu1414del)
|
|
|
NM_006766.5(KAT6A):c.4256_4260dup (p.Asp1421fs)
|
rs1587708739
|
|
NM_006766.5(KAT6A):c.4273_4274del (p.Val1425fs)
|
rs2150856278
|
|
NM_006766.5(KAT6A):c.4292dup (p.Leu1431fs)
|
rs786200956
|
|
NM_006766.5(KAT6A):c.4342G>A (p.Glu1448Lys)
|
|
|
NM_006766.5(KAT6A):c.4361dup (p.Thr1455fs)
|
rs1554679835
|
|
NM_006766.5(KAT6A):c.4370A>G (p.Gln1457Arg)
|
|
|
NM_006766.5(KAT6A):c.4372_4373del (p.Ser1458fs)
|
rs1587708558
|
|
NM_006766.5(KAT6A):c.4381C>T (p.Gln1461Ter)
|
rs1057524195
|
|
NM_006766.5(KAT6A):c.4396C>T (p.Pro1466Ser)
|
|
|
NM_006766.5(KAT6A):c.4399C>T (p.Gln1467Ter)
|
rs1064795648
|
|
NM_006766.5(KAT6A):c.4444C>T (p.Pro1482Ser)
|
|
|
NM_006766.5(KAT6A):c.451A>G (p.Ile151Val)
|
|
|
NM_006766.5(KAT6A):c.4529C>T (p.Thr1510Ile)
|
rs1281540872
|
|
NM_006766.5(KAT6A):c.4571T>C (p.Met1524Thr)
|
|
|
NM_006766.5(KAT6A):c.4592C>G (p.Pro1531Arg)
|
|
|
NM_006766.5(KAT6A):c.4594A>T (p.Met1532Leu)
|
rs1476341397
|
|
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser)
|
rs1064794000
|
|
NM_006766.5(KAT6A):c.4658T>C (p.Leu1553Pro)
|
|
|
NM_006766.5(KAT6A):c.4708G>A (p.Asp1570Asn)
|
|
|
NM_006766.5(KAT6A):c.4752G>C (p.Gln1584His)
|
rs2150855858
|
|
NM_006766.5(KAT6A):c.4819C>T (p.Gln1607Ter)
|
rs1554679654
|
|
NM_006766.5(KAT6A):c.4837_4854dup (p.Gly1613_Met1618dup)
|
rs1821666176
|
|
NM_006766.5(KAT6A):c.4859A>G (p.Gln1620Arg)
|
|
|
NM_006766.5(KAT6A):c.4882G>A (p.Ala1628Thr)
|
|
|
NM_006766.5(KAT6A):c.4940AGC[5] (p.Gln1650dup)
|
rs542184116
|
|
NM_006766.5(KAT6A):c.4953_4976del (p.Pro1652_Pro1659del)
|
rs779701073
|
|
NM_006766.5(KAT6A):c.4968_4982dup (p.Gln1657_Pro1661dup)
|
rs750049486
|
|
NM_006766.5(KAT6A):c.5019ACC[3] (p.Pro1675dup)
|
rs758188280
|
|
NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1])
|
rs548231613
|
|
NM_006766.5(KAT6A):c.5075C>T (p.Pro1692Leu)
|
|
|
NM_006766.5(KAT6A):c.5102C>T (p.Pro1701Leu)
|
|
|
NM_006766.5(KAT6A):c.5135C>T (p.Thr1712Ile)
|
rs2150855310
|
|
NM_006766.5(KAT6A):c.5195A>G (p.Tyr1732Cys)
|
|
|
NM_006766.5(KAT6A):c.5210G>A (p.Gly1737Glu)
|
|
|
NM_006766.5(KAT6A):c.5234C>G (p.Ser1745Cys)
|
|
|
NM_006766.5(KAT6A):c.5248_5257del (p.Ala1749_Thr1750insTer)
|
rs1554679415
|
|
NM_006766.5(KAT6A):c.524A>T (p.Asn175Ile)
|
|
|
NM_006766.5(KAT6A):c.5366C>G (p.Thr1789Arg)
|
rs1488170324
|
|
NM_006766.5(KAT6A):c.5449G>A (p.Ala1817Thr)
|
|
|
NM_006766.5(KAT6A):c.553C>G (p.Leu185Val)
|
|
|
NM_006766.5(KAT6A):c.5546_5555del (p.Met1849fs)
|
rs886041480
|
|
NM_006766.5(KAT6A):c.5554A>G (p.Lys1852Glu)
|
|
|
NM_006766.5(KAT6A):c.5566del (p.Ser1856fs)
|
rs1587706119
|
|
NM_006766.5(KAT6A):c.5570T>C (p.Ile1857Thr)
|
|
|
NM_006766.5(KAT6A):c.557C>G (p.Ser186Cys)
|
|
|
NM_006766.5(KAT6A):c.5594C>T (p.Pro1865Leu)
|
rs2150854866
|
|
NM_006766.5(KAT6A):c.5601G>A (p.Ala1867=)
|
rs140666969
|
|
NM_006766.5(KAT6A):c.5629C>T (p.Arg1877Cys)
|
|
|
NM_006766.5(KAT6A):c.5639C>A (p.Ser1880Ter)
|
rs201870299
|
|
NM_006766.5(KAT6A):c.5644G>A (p.Val1882Ile)
|
rs2150854801
|
|
NM_006766.5(KAT6A):c.5645_5646delinsGCTGGCCGTA (p.Val1882fs)
|
rs1587705905
|
|
NM_006766.5(KAT6A):c.5693A>G (p.Asn1898Ser)
|
|
|
NM_006766.5(KAT6A):c.5696T>C (p.Met1899Thr)
|
|
|
NM_006766.5(KAT6A):c.5701G>C (p.Val1901Leu)
|
|
|
NM_006766.5(KAT6A):c.571G>T (p.Val191Leu)
|
rs1057523324
|
|
NM_006766.5(KAT6A):c.5764A>G (p.Met1922Val)
|
|
|
NM_006766.5(KAT6A):c.5788C>T (p.Pro1930Ser)
|
|
|
NM_006766.5(KAT6A):c.5817C>A (p.Asn1939Lys)
|
rs2150854586
|
|
NM_006766.5(KAT6A):c.5819C>T (p.Pro1940Leu)
|
|
|
NM_006766.5(KAT6A):c.5878A>C (p.Ser1960Arg)
|
rs1057523241
|
|
NM_006766.5(KAT6A):c.5904G>A (p.Met1968Ile)
|
|
|
NM_006766.5(KAT6A):c.5966C>G (p.Ala1989Gly)
|
rs2150854430
|
|
NM_006766.5(KAT6A):c.5974G>C (p.Val1992Leu)
|
rs1050612463
|
|
NM_006766.5(KAT6A):c.638T>A (p.Leu213His)
|
rs2150893468
|
|
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter)
|
rs1395351821
|
|
NM_006766.5(KAT6A):c.68A>G (p.Gln23Arg)
|
rs2150932970
|
|
NM_006766.5(KAT6A):c.710-14C>G
|
rs142223557
|
|
NM_006766.5(KAT6A):c.745A>G (p.Thr249Ala)
|
|
|
NM_006766.5(KAT6A):c.758A>G (p.Lys253Arg)
|
|
|
NM_006766.5(KAT6A):c.799T>C (p.Ser267Pro)
|
|
|
NM_006766.5(KAT6A):c.805C>T (p.Arg269Ter)
|
rs1564039543
|
|
NM_006766.5(KAT6A):c.824C>T (p.Ala275Val)
|
rs1220943324
|
|
NM_006766.5(KAT6A):c.825+53G>C
|
rs148680744
|
|
NM_006766.5(KAT6A):c.826-236_826-232del
|
rs547040506
|
|
NM_006766.5(KAT6A):c.826-58C>T
|
rs11990460
|
|
NM_006766.5(KAT6A):c.856C>T (p.Arg286Ter)
|
rs1564038539
|
|
NM_006766.5(KAT6A):c.871G>A (p.Glu291Lys)
|
|
|
NM_006766.5(KAT6A):c.931C>T (p.Arg311Ter)
|
rs1064793721
|
|
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter)
|
rs1554688879
|
|
NM_006766.5(KAT6A):c.958C>G (p.Leu320Val)
|
rs1175748950
|
|
NM_006766.5(KAT6A):c.971C>A (p.Ala324Glu)
|
|
|
NM_006766.5(KAT6A):c.985C>T (p.Arg329Trp)
|
|
|