ClinVar Miner

List of variants in gene KAT6A studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1520
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HGVS dbSNP gnomAD frequency
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.2760G>C (p.Leu920=) rs200864330 0.00030
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.1342A>G (p.Ser448Gly) rs149459548 0.00017
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.3802C>T (p.Pro1268Ser) rs769120352 0.00009
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.4560C>T (p.Ser1520=) rs370577877 0.00007
NM_006766.5(KAT6A):c.5572C>T (p.Arg1858Cys) rs374807145 0.00007
NM_006766.5(KAT6A):c.1996+8T>A rs201261699 0.00006
NM_006766.5(KAT6A):c.2517T>C (p.Ala839=) rs141724678 0.00006
NM_006766.5(KAT6A):c.2911C>T (p.Arg971Cys) rs146209687 0.00006
NM_006766.5(KAT6A):c.2983G>A (p.Glu995Lys) rs779315883 0.00006
NM_006766.5(KAT6A):c.3256C>T (p.Arg1086Cys) rs61753683 0.00006
NM_006766.5(KAT6A):c.4503C>T (p.Asn1501=) rs1035776343 0.00006
NM_006766.5(KAT6A):c.4768G>A (p.Gly1590Ser) rs751096264 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.2710G>A (p.Glu904Lys) rs755856755 0.00004
NM_006766.5(KAT6A):c.2791G>A (p.Gly931Arg) rs779101695 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.4988C>T (p.Pro1663Leu) rs755968563 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.5921G>A (p.Gly1974Glu) rs374003917 0.00004
NM_006766.5(KAT6A):c.1043T>G (p.Val348Gly) rs764318325 0.00003
NM_006766.5(KAT6A):c.2241C>A (p.Ile747=) rs747658625 0.00003
NM_006766.5(KAT6A):c.3982A>G (p.Lys1328Glu) rs199709098 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.4870G>A (p.Val1624Ile) rs144720569 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.5601G>T (p.Ala1867=) rs140666969 0.00003
NM_006766.5(KAT6A):c.107T>C (p.Val36Ala) rs367773799 0.00002
NM_006766.5(KAT6A):c.2843G>A (p.Arg948Gln) rs200762586 0.00002
NM_006766.5(KAT6A):c.2869G>T (p.Ala957Ser) rs374802138 0.00002
NM_006766.5(KAT6A):c.3077G>A (p.Arg1026His) rs764202707 0.00002
NM_006766.5(KAT6A):c.3989A>G (p.Lys1330Arg) rs746406926 0.00002
NM_006766.5(KAT6A):c.4512C>T (p.Ala1504=) rs375447531 0.00002
NM_006766.5(KAT6A):c.4722C>T (p.Gly1574=) rs778163959 0.00002
NM_006766.5(KAT6A):c.893C>T (p.Thr298Ile) rs199732997 0.00002
NM_006766.5(KAT6A):c.1364-9T>A rs75568702 0.00001
NM_006766.5(KAT6A):c.2459A>G (p.Glu820Gly) rs769304001 0.00001
NM_006766.5(KAT6A):c.2505A>G (p.Pro835=) rs539733080 0.00001
NM_006766.5(KAT6A):c.2689G>C (p.Glu897Gln) rs1367238054 0.00001
NM_006766.5(KAT6A):c.3002C>T (p.Ser1001Leu) rs1050725078 0.00001
NM_006766.5(KAT6A):c.3010A>G (p.Ile1004Val) rs560767148 0.00001
NM_006766.5(KAT6A):c.3026C>T (p.Thr1009Met) rs750975358 0.00001
NM_006766.5(KAT6A):c.3299C>G (p.Ser1100Cys) rs758083988 0.00001
NM_006766.5(KAT6A):c.3553C>G (p.Gln1185Glu) rs374290942 0.00001
NM_006766.5(KAT6A):c.3679G>A (p.Glu1227Lys) rs749567571 0.00001
NM_006766.5(KAT6A):c.3705G>A (p.Glu1235=) rs202171204 0.00001
NM_006766.5(KAT6A):c.3742G>A (p.Glu1248Lys) rs761598652 0.00001
NM_006766.5(KAT6A):c.3936C>T (p.Asp1312=) rs755916373 0.00001
NM_006766.5(KAT6A):c.4058A>G (p.Asp1353Gly) rs764284203 0.00001
NM_006766.5(KAT6A):c.458G>A (p.Arg153His) rs770241643 0.00001
NM_006766.5(KAT6A):c.4767C>T (p.Tyr1589=) rs754428979 0.00001
NM_006766.5(KAT6A):c.4804A>G (p.Ser1602Gly) rs369072402 0.00001
NM_006766.5(KAT6A):c.4841G>A (p.Ser1614Asn) rs1198819132 0.00001
NM_006766.5(KAT6A):c.4962G>A (p.Pro1654=) rs1053179239 0.00001
NM_006766.5(KAT6A):c.523A>G (p.Asn175Asp) rs1237996435 0.00001
NM_006766.5(KAT6A):c.5299C>G (p.His1767Asp) rs1821629207 0.00001
NM_006766.5(KAT6A):c.5549C>T (p.Pro1850Leu) rs1374405049 0.00001
NM_006766.5(KAT6A):c.5630G>A (p.Arg1877His) rs1308362424 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.5688C>T (p.Gly1896=) rs944533001 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.661G>A (p.Glu221Lys) rs774910975 0.00001
NM_006766.5(KAT6A):c.-199T>A rs7006698
NM_006766.5(KAT6A):c.-2C>T rs750971344
NM_006766.5(KAT6A):c.1003A>G (p.Ile335Val)
NM_006766.5(KAT6A):c.1004T>G (p.Ile335Arg)
NM_006766.5(KAT6A):c.1009C>A (p.Arg337Ser)
NM_006766.5(KAT6A):c.1009C>T (p.Arg337Cys)
NM_006766.5(KAT6A):c.101A>G (p.Asn34Ser)
NM_006766.5(KAT6A):c.1028A>T (p.Lys343Met)
NM_006766.5(KAT6A):c.1040C>T (p.Thr347Met)
NM_006766.5(KAT6A):c.1043+10A>G
NM_006766.5(KAT6A):c.1043+14G>T
NM_006766.5(KAT6A):c.1043+4dup
NM_006766.5(KAT6A):c.1043+5G>A
NM_006766.5(KAT6A):c.1044-10A>T
NM_006766.5(KAT6A):c.1044-10_1044-7del
NM_006766.5(KAT6A):c.1044-180G>T rs143119525
NM_006766.5(KAT6A):c.1044-18C>T
NM_006766.5(KAT6A):c.1044-4T>G
NM_006766.5(KAT6A):c.1051G>T (p.Gly351Cys)
NM_006766.5(KAT6A):c.1054C>G (p.Pro352Ala)
NM_006766.5(KAT6A):c.1056C>T (p.Pro352=)
NM_006766.5(KAT6A):c.1060A>C (p.Ser354Arg)
NM_006766.5(KAT6A):c.1063A>C (p.Lys355Gln)
NM_006766.5(KAT6A):c.1065A>G (p.Lys355=)
NM_006766.5(KAT6A):c.1070G>A (p.Arg357Gln)
NM_006766.5(KAT6A):c.1082G>T (p.Gly361Val)
NM_006766.5(KAT6A):c.1085_1089dup (p.Arg364fs) rs1554688570
NM_006766.5(KAT6A):c.1089_1091del (p.Arg364del)
NM_006766.5(KAT6A):c.1096C>T (p.Arg366Ter) rs1564034820
NM_006766.5(KAT6A):c.1097G>A (p.Arg366Gln) rs1181854686
NM_006766.5(KAT6A):c.1100A>G (p.Lys367Arg)
NM_006766.5(KAT6A):c.1102A>G (p.Ile368Val)
NM_006766.5(KAT6A):c.1107T>A (p.Thr369=)
NM_006766.5(KAT6A):c.1108C>G (p.Leu370Val)
NM_006766.5(KAT6A):c.1112C>A (p.Ser371Tyr)
NM_006766.5(KAT6A):c.1114A>G (p.Ser372Gly)
NM_006766.5(KAT6A):c.1115G>T (p.Ser372Ile)
NM_006766.5(KAT6A):c.1119A>G (p.Gln373=)
NM_006766.5(KAT6A):c.1121C>T (p.Ser374Leu)
NM_006766.5(KAT6A):c.1122A>G (p.Ser374=)
NM_006766.5(KAT6A):c.1125A>C (p.Ala375=)
NM_006766.5(KAT6A):c.1126T>G (p.Ser376Ala)
NM_006766.5(KAT6A):c.1131A>G (p.Ser377=)
NM_006766.5(KAT6A):c.1133C>G (p.Ser378Ter) rs2150886525
NM_006766.5(KAT6A):c.1135T>C (p.Ser379Pro)
NM_006766.5(KAT6A):c.1136C>G (p.Ser379Ter)
NM_006766.5(KAT6A):c.1138_1139inv (p.Glu380Ser)
NM_006766.5(KAT6A):c.1139AAG[1] (p.Glu381del)
NM_006766.5(KAT6A):c.1156C>T (p.Arg386Trp)
NM_006766.5(KAT6A):c.1171G>T (p.Asp391Tyr)
NM_006766.5(KAT6A):c.1176del (p.Cys393fs) rs1554688473
NM_006766.5(KAT6A):c.1179C>G (p.Cys393Trp)
NM_006766.5(KAT6A):c.1179C>T (p.Cys393=)
NM_006766.5(KAT6A):c.1190A>G (p.Asn397Ser)
NM_006766.5(KAT6A):c.1191T>C (p.Asn397=)
NM_006766.5(KAT6A):c.1208A>G (p.Asn403Ser)
NM_006766.5(KAT6A):c.1211A>G (p.Lys404Arg)
NM_006766.5(KAT6A):c.1212G>C (p.Lys404Asn) rs1824096489
NM_006766.5(KAT6A):c.1219A>G (p.Lys407Glu)
NM_006766.5(KAT6A):c.1224G>A (p.Gly408=)
NM_006766.5(KAT6A):c.1228A>G (p.Ile410Val)
NM_006766.5(KAT6A):c.1229T>C (p.Ile410Thr)
NM_006766.5(KAT6A):c.123C>T (p.Gly41=)
NM_006766.5(KAT6A):c.1266T>A (p.Asp422Glu)
NM_006766.5(KAT6A):c.1269G>T (p.Gly423=)
NM_006766.5(KAT6A):c.1271G>T (p.Arg424Leu)
NM_006766.5(KAT6A):c.1280G>T (p.Arg427Leu) rs1131691878
NM_006766.5(KAT6A):c.1287A>C (p.Glu429Asp)
NM_006766.5(KAT6A):c.1291G>C (p.Val431Leu)
NM_006766.5(KAT6A):c.1299C>T (p.Tyr433=)
NM_006766.5(KAT6A):c.12C>T (p.Leu4=)
NM_006766.5(KAT6A):c.1302T>C (p.Ser434=)
NM_006766.5(KAT6A):c.1302_1303del (p.Glu435fs)
NM_006766.5(KAT6A):c.1307A>G (p.Gln436Arg)
NM_006766.5(KAT6A):c.1308A>C (p.Gln436His)
NM_006766.5(KAT6A):c.1308A>G (p.Gln436=)
NM_006766.5(KAT6A):c.130C>T (p.Arg44Cys)
NM_006766.5(KAT6A):c.1311T>C (p.Tyr437=)
NM_006766.5(KAT6A):c.1313G>A (p.Arg438Gln)
NM_006766.5(KAT6A):c.131G>A (p.Arg44His)
NM_006766.5(KAT6A):c.1326G>A (p.Arg442=)
NM_006766.5(KAT6A):c.1327G>C (p.Gly443Arg)
NM_006766.5(KAT6A):c.1328G>A (p.Gly443Asp)
NM_006766.5(KAT6A):c.1328G>T (p.Gly443Val)
NM_006766.5(KAT6A):c.1343G>A (p.Ser448Asn)
NM_006766.5(KAT6A):c.1353T>C (p.Asp451=)
NM_006766.5(KAT6A):c.1354T>G (p.Trp452Gly)
NM_006766.5(KAT6A):c.1355G>T (p.Trp452Leu)
NM_006766.5(KAT6A):c.1360A>G (p.Thr454Ala)
NM_006766.5(KAT6A):c.1363+15_1363+16del
NM_006766.5(KAT6A):c.1363+7G>A
NM_006766.5(KAT6A):c.1364-8A>G
NM_006766.5(KAT6A):c.1367A>G (p.Asn456Ser)
NM_006766.5(KAT6A):c.1369C>G (p.Gln457Glu) rs2150884989
NM_006766.5(KAT6A):c.1373A>T (p.Asp458Val)
NM_006766.5(KAT6A):c.137C>G (p.Thr46Ser)
NM_006766.5(KAT6A):c.139G>A (p.Val47Ile)
NM_006766.5(KAT6A):c.1400A>C (p.Glu467Ala)
NM_006766.5(KAT6A):c.1401G>C (p.Glu467Asp)
NM_006766.5(KAT6A):c.1405C>T (p.Arg469Ter) rs2150884950
NM_006766.5(KAT6A):c.1406G>A (p.Arg469Gln)
NM_006766.5(KAT6A):c.1406G>T (p.Arg469Leu)
NM_006766.5(KAT6A):c.1408C>G (p.Leu470Val)
NM_006766.5(KAT6A):c.1409T>A (p.Leu470His)
NM_006766.5(KAT6A):c.1409T>C (p.Leu470Pro)
NM_006766.5(KAT6A):c.1413T>C (p.Phe471=)
NM_006766.5(KAT6A):c.1419C>T (p.Ser473=)
NM_006766.5(KAT6A):c.141T>G (p.Val47=)
NM_006766.5(KAT6A):c.1421A>G (p.Gln474Arg)
NM_006766.5(KAT6A):c.142T>G (p.Leu48Val)
NM_006766.5(KAT6A):c.1433C>T (p.Thr478Ile) rs1554688023
NM_006766.5(KAT6A):c.1438A>G (p.Lys480Glu)
NM_006766.5(KAT6A):c.1444A>G (p.Met482Val)
NM_006766.5(KAT6A):c.1445T>A (p.Met482Lys) rs138707191
NM_006766.5(KAT6A):c.1445T>C (p.Met482Thr)
NM_006766.5(KAT6A):c.1445T>G (p.Met482Arg) rs138707191
NM_006766.5(KAT6A):c.1453T>C (p.Phe485Leu)
NM_006766.5(KAT6A):c.1456C>T (p.Arg486Cys) rs267601926
NM_006766.5(KAT6A):c.1457G>A (p.Arg486His)
NM_006766.5(KAT6A):c.1462A>G (p.Ile488Val)
NM_006766.5(KAT6A):c.1465_1471del (p.Gln489fs) rs1823961696
NM_006766.5(KAT6A):c.1467A>G (p.Gln489=)
NM_006766.5(KAT6A):c.1473_1476dup (p.Leu493fs) rs1587767856
NM_006766.5(KAT6A):c.1475C>T (p.Ala492Val)
NM_006766.5(KAT6A):c.147A>G (p.Glu49=)
NM_006766.5(KAT6A):c.1482+12T>C
NM_006766.5(KAT6A):c.1482+16_1482+18dup
NM_006766.5(KAT6A):c.1482+238dup rs371228495
NM_006766.5(KAT6A):c.1483-18T>G
NM_006766.5(KAT6A):c.1483-7T>C
NM_006766.5(KAT6A):c.1483A>G (p.Lys495Glu)
NM_006766.5(KAT6A):c.1488T>C (p.Val496=)
NM_006766.5(KAT6A):c.1494G>A (p.Val498=)
NM_006766.5(KAT6A):c.1501C>G (p.Pro501Ala)
NM_006766.5(KAT6A):c.1501C>T (p.Pro501Ser)
NM_006766.5(KAT6A):c.1512A>G (p.Pro504=)
NM_006766.5(KAT6A):c.1519C>T (p.Arg507Cys)
NM_006766.5(KAT6A):c.1525C>G (p.Pro509Ala)
NM_006766.5(KAT6A):c.1527C>G (p.Pro509=)
NM_006766.5(KAT6A):c.1530T>C (p.Ser510=)
NM_006766.5(KAT6A):c.1536dup (p.Glu513Ter) rs886041809
NM_006766.5(KAT6A):c.1539G>A (p.Glu513=)
NM_006766.5(KAT6A):c.1547A>G (p.Lys516Arg)
NM_006766.5(KAT6A):c.1550A>G (p.Tyr517Cys)
NM_006766.5(KAT6A):c.1550_1555dup (p.Glu518_Ile519insAsnGlu)
NM_006766.5(KAT6A):c.1570T>C (p.Ser524Pro)
NM_006766.5(KAT6A):c.1571C>T (p.Ser524Phe)
NM_006766.5(KAT6A):c.1579T>C (p.Tyr527His)
NM_006766.5(KAT6A):c.1597A>G (p.Arg533Gly)
NM_006766.5(KAT6A):c.1598+15del
NM_006766.5(KAT6A):c.1598+18del
NM_006766.5(KAT6A):c.1598+263dup rs71239085
NM_006766.5(KAT6A):c.1599-11A>C
NM_006766.5(KAT6A):c.1599-20del
NM_006766.5(KAT6A):c.1600C>T (p.Leu534=)
NM_006766.5(KAT6A):c.1605C>G (p.Pro535=)
NM_006766.5(KAT6A):c.1621G>A (p.Glu541Lys)
NM_006766.5(KAT6A):c.1641G>A (p.Met547Ile)
NM_006766.5(KAT6A):c.1657C>T (p.Leu553=)
NM_006766.5(KAT6A):c.1658T>C (p.Leu553Pro) rs2150867576
NM_006766.5(KAT6A):c.1668C>T (p.His556=)
NM_006766.5(KAT6A):c.1669A>G (p.Met557Val)
NM_006766.5(KAT6A):c.1671G>A (p.Met557Ile)
NM_006766.5(KAT6A):c.1677A>G (p.Lys559=)
NM_006766.5(KAT6A):c.1688T>A (p.Phe563Tyr)
NM_006766.5(KAT6A):c.1703A>G (p.Asn568Ser)
NM_006766.5(KAT6A):c.1718A>G (p.Lys573Arg)
NM_006766.5(KAT6A):c.171T>C (p.Asp57=)
NM_006766.5(KAT6A):c.1720A>C (p.Asn574His)
NM_006766.5(KAT6A):c.1721A>G (p.Asn574Ser)
NM_006766.5(KAT6A):c.1722T>C (p.Asn574=)
NM_006766.5(KAT6A):c.1724A>G (p.Asn575Ser)
NM_006766.5(KAT6A):c.1725T>C (p.Asn575=)
NM_006766.5(KAT6A):c.1732G>C (p.Val578Leu)
NM_006766.5(KAT6A):c.1736T>G (p.Phe579Cys) rs2150867525
NM_006766.5(KAT6A):c.1740+10A>G
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.1740+6G>A
NM_006766.5(KAT6A):c.1740+9G>A
NM_006766.5(KAT6A):c.1740+9G>C
NM_006766.5(KAT6A):c.1741-14G>A
NM_006766.5(KAT6A):c.1741-16_1741-12del
NM_006766.5(KAT6A):c.1741-20del
NM_006766.5(KAT6A):c.1745A>G (p.Asp582Gly)
NM_006766.5(KAT6A):c.1751A>T (p.Asn584Ile)
NM_006766.5(KAT6A):c.1757G>A (p.Ser586Asn)
NM_006766.5(KAT6A):c.1764T>G (p.Ile588Met)
NM_006766.5(KAT6A):c.1769G>A (p.Cys590Tyr)
NM_006766.5(KAT6A):c.1793A>G (p.Lys598Arg)
NM_006766.5(KAT6A):c.1815C>T (p.Thr605=)
NM_006766.5(KAT6A):c.1824C>T (p.Tyr608=)
NM_006766.5(KAT6A):c.1825G>C (p.Asp609His)
NM_006766.5(KAT6A):c.1827T>C (p.Asp609=)
NM_006766.5(KAT6A):c.1828G>T (p.Val610Leu)
NM_006766.5(KAT6A):c.1831G>C (p.Glu611Gln)
NM_006766.5(KAT6A):c.1847A>T (p.Tyr616Phe)
NM_006766.5(KAT6A):c.1854A>G (p.Leu618=)
NM_006766.5(KAT6A):c.1881C>T (p.His627=)
NM_006766.5(KAT6A):c.1882C>A (p.Leu628Ile) rs1177403114
NM_006766.5(KAT6A):c.1885G>A (p.Val629Ile)
NM_006766.5(KAT6A):c.1892A>G (p.Tyr631Cys)
NM_006766.5(KAT6A):c.1899T>C (p.Ser633=)
NM_006766.5(KAT6A):c.1902+13G>C
NM_006766.5(KAT6A):c.1902+14C>A
NM_006766.5(KAT6A):c.1902+15T>C
NM_006766.5(KAT6A):c.1902+19A>G
NM_006766.5(KAT6A):c.1902+7A>G
NM_006766.5(KAT6A):c.1902+8T>C
NM_006766.5(KAT6A):c.1902+9G>A
NM_006766.5(KAT6A):c.1903-12T>A
NM_006766.5(KAT6A):c.1903-14G>A
NM_006766.5(KAT6A):c.1903-206C>T rs77695125
NM_006766.5(KAT6A):c.1903-3C>T
NM_006766.5(KAT6A):c.1903-8T>A
NM_006766.5(KAT6A):c.1903G>A (p.Glu635Lys)
NM_006766.5(KAT6A):c.1923G>A (p.Lys641=)
NM_006766.5(KAT6A):c.1928A>G (p.Asn643Ser) rs1822412202
NM_006766.5(KAT6A):c.1929T>C (p.Asn643=)
NM_006766.5(KAT6A):c.192A>C (p.Ser64=)
NM_006766.5(KAT6A):c.1938T>C (p.Cys646=)
NM_006766.5(KAT6A):c.1956A>G (p.Gln652=)
NM_006766.5(KAT6A):c.1989C>T (p.Ile663=)
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.1997-12G>C
NM_006766.5(KAT6A):c.1997-19G>A
NM_006766.5(KAT6A):c.1997-19G>T
NM_006766.5(KAT6A):c.1997-5T>G
NM_006766.5(KAT6A):c.1997-6C>T rs1564013075
NM_006766.5(KAT6A):c.19C>T (p.Pro7Ser)
NM_006766.5(KAT6A):c.2004G>C (p.Leu668Phe) rs2150863583
NM_006766.5(KAT6A):c.2007A>G (p.Leu669=)
NM_006766.5(KAT6A):c.2007del (p.Leu669fs) rs1564013046
NM_006766.5(KAT6A):c.2008T>C (p.Ser670Pro) rs2150863577
NM_006766.5(KAT6A):c.2014C>T (p.Arg672Cys)
NM_006766.5(KAT6A):c.2021G>A (p.Gly674Asp)
NM_006766.5(KAT6A):c.2023C>T (p.Gln675Ter)
NM_006766.5(KAT6A):c.2025A>G (p.Gln675=)
NM_006766.5(KAT6A):c.2028A>T (p.Ala676=)
NM_006766.5(KAT6A):c.2031G>A (p.Gly677=)
NM_006766.5(KAT6A):c.2040G>T (p.Glu680Asp)
NM_006766.5(KAT6A):c.2045C>T (p.Pro682Leu)
NM_006766.5(KAT6A):c.2046G>A (p.Pro682=)
NM_006766.5(KAT6A):c.2046G>C (p.Pro682=)
NM_006766.5(KAT6A):c.2050T>C (p.Ser684Pro)
NM_006766.5(KAT6A):c.2055T>C (p.Asp685=)
NM_006766.5(KAT6A):c.205A>C (p.Asn69His) rs1257924800
NM_006766.5(KAT6A):c.2062C>T (p.Arg688Cys)
NM_006766.5(KAT6A):c.2063G>A (p.Arg688His)
NM_006766.5(KAT6A):c.2065C>G (p.Leu689Val)
NM_006766.5(KAT6A):c.206A>G (p.Asn69Ser)
NM_006766.5(KAT6A):c.2074A>G (p.Met692Val)
NM_006766.5(KAT6A):c.2079A>G (p.Ala693=)
NM_006766.5(KAT6A):c.2081A>G (p.Tyr694Cys)
NM_006766.5(KAT6A):c.2088A>T (p.Lys696Asn)
NM_006766.5(KAT6A):c.2098T>C (p.Leu700=)
NM_006766.5(KAT6A):c.209C>T (p.Ser70Phe)
NM_006766.5(KAT6A):c.20C>T (p.Pro7Leu)
NM_006766.5(KAT6A):c.2109T>A (p.Leu703=)
NM_006766.5(KAT6A):c.2113C>T (p.His705Tyr)
NM_006766.5(KAT6A):c.2120A>G (p.Asn707Ser)
NM_006766.5(KAT6A):c.2122G>A (p.Asp708Asn)
NM_006766.5(KAT6A):c.2124C>T (p.Asp708=)
NM_006766.5(KAT6A):c.2140AAG[1] (p.Lys715del) rs1554682073
NM_006766.5(KAT6A):c.2153A>C (p.Lys718Thr) rs2150863478
NM_006766.5(KAT6A):c.2154G>A (p.Lys718=)
NM_006766.5(KAT6A):c.2155T>C (p.Leu719=)
NM_006766.5(KAT6A):c.2163A>C (p.Gly721=)
NM_006766.5(KAT6A):c.2169C>T (p.Cys723=)
NM_006766.5(KAT6A):c.2170C>T (p.Pro724Ser)
NM_006766.5(KAT6A):c.21G>A (p.Pro7=)
NM_006766.5(KAT6A):c.2202A>G (p.Leu734=)
NM_006766.5(KAT6A):c.2203C>T (p.Arg735Ter)
NM_006766.5(KAT6A):c.220C>G (p.Pro74Ala)
NM_006766.5(KAT6A):c.2217C>G (p.Phe739Leu)
NM_006766.5(KAT6A):c.2217C>T (p.Phe739=)
NM_006766.5(KAT6A):c.2225A>G (p.Asp742Gly)
NM_006766.5(KAT6A):c.2228+6T>G
NM_006766.5(KAT6A):c.2229-14T>C
NM_006766.5(KAT6A):c.2229-17C>A
NM_006766.5(KAT6A):c.2232del (p.Phe744fs)
NM_006766.5(KAT6A):c.2233G>T (p.Val745Leu)
NM_006766.5(KAT6A):c.2249A>G (p.Glu750Gly)
NM_006766.5(KAT6A):c.2256T>C (p.Leu752=)
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.2283G>A (p.Gln761=)
NM_006766.5(KAT6A):c.2283G>C (p.Gln761His)
NM_006766.5(KAT6A):c.2287A>G (p.Asn763Asp)
NM_006766.5(KAT6A):c.2302G>C (p.Asp768His)
NM_006766.5(KAT6A):c.2323C>T (p.Arg775Cys)
NM_006766.5(KAT6A):c.2324G>A (p.Arg775His)
NM_006766.5(KAT6A):c.2338A>G (p.Ile780Val)
NM_006766.5(KAT6A):c.2341G>T (p.Val781Leu)
NM_006766.5(KAT6A):c.2364G>A (p.Glu788=)
NM_006766.5(KAT6A):c.2366A>G (p.Glu789Gly) rs1017972143
NM_006766.5(KAT6A):c.2367G>A (p.Glu789=)
NM_006766.5(KAT6A):c.2370AGA[1] (p.Glu793del)
NM_006766.5(KAT6A):c.2384A>C (p.Glu795Ala)
NM_006766.5(KAT6A):c.2385G>C (p.Glu795Asp)
NM_006766.5(KAT6A):c.2389G>A (p.Gly797Arg)
NM_006766.5(KAT6A):c.2397C>G (p.Asn799Lys)
NM_006766.5(KAT6A):c.2397C>T (p.Asn799=)
NM_006766.5(KAT6A):c.2404C>T (p.Pro802Ser)
NM_006766.5(KAT6A):c.2408A>G (p.Gln803Arg)
NM_006766.5(KAT6A):c.2413C>G (p.Gln805Glu)
NM_006766.5(KAT6A):c.2416G>C (p.Glu806Gln)
NM_006766.5(KAT6A):c.2418A>C (p.Glu806Asp)
NM_006766.5(KAT6A):c.2422G>A (p.Glu808Lys) rs2150862750
NM_006766.5(KAT6A):c.2424A>G (p.Glu808=)
NM_006766.5(KAT6A):c.2436+13A>T
NM_006766.5(KAT6A):c.2436+17T>C
NM_006766.5(KAT6A):c.2436+2dup rs1822202286
NM_006766.5(KAT6A):c.2436+9A>G
NM_006766.5(KAT6A):c.2437-14T>A
NM_006766.5(KAT6A):c.2437-15A>G
NM_006766.5(KAT6A):c.2437-16del
NM_006766.5(KAT6A):c.2437-19T>A
NM_006766.5(KAT6A):c.2437-19T>C
NM_006766.5(KAT6A):c.2437-1G>A rs1822131416
NM_006766.5(KAT6A):c.2437-318T>C rs12543801
NM_006766.5(KAT6A):c.2437-3C>G rs1057524340
NM_006766.5(KAT6A):c.2440G>A (p.Gly814Arg)
NM_006766.5(KAT6A):c.2444A>G (p.Lys815Arg) rs1237194366
NM_006766.5(KAT6A):c.2463C>A (p.Asn821Lys)
NM_006766.5(KAT6A):c.2464A>G (p.Lys822Glu)
NM_006766.5(KAT6A):c.2473G>A (p.Asp825Asn)
NM_006766.5(KAT6A):c.2476T>C (p.Ser826Pro)
NM_006766.5(KAT6A):c.247C>T (p.Pro83Ser) rs1057518385
NM_006766.5(KAT6A):c.2480A>G (p.Tyr827Cys)
NM_006766.5(KAT6A):c.2481T>C (p.Tyr827=)
NM_006766.5(KAT6A):c.2486T>C (p.Val829Ala)
NM_006766.5(KAT6A):c.2489A>T (p.Glu830Val)
NM_006766.5(KAT6A):c.248C>G (p.Pro83Arg) rs2150932905
NM_006766.5(KAT6A):c.2493T>G (p.Ser831Arg)
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.24T>G (p.Leu8=)
NM_006766.5(KAT6A):c.250A>G (p.Lys84Glu) rs1224203245
NM_006766.5(KAT6A):c.2513T>C (p.Met838Thr)
NM_006766.5(KAT6A):c.2518C>T (p.Pro840Ser)
NM_006766.5(KAT6A):c.251A>G (p.Lys84Arg)
NM_006766.5(KAT6A):c.252G>A (p.Lys84=)
NM_006766.5(KAT6A):c.2532A>G (p.Thr844=)
NM_006766.5(KAT6A):c.2533C>G (p.Arg845Gly)
NM_006766.5(KAT6A):c.2534G>A (p.Arg845His)
NM_006766.5(KAT6A):c.2535T>G (p.Arg845=)
NM_006766.5(KAT6A):c.2536T>C (p.Leu846=)
NM_006766.5(KAT6A):c.2540G>A (p.Ser847Asn)
NM_006766.5(KAT6A):c.2546A>G (p.Gln849Arg)
NM_006766.5(KAT6A):c.2555C>G (p.Pro852Arg)
NM_006766.5(KAT6A):c.2558A>G (p.His853Arg)
NM_006766.5(KAT6A):c.2562T>C (p.Asp854=)
NM_006766.5(KAT6A):c.2563A>T (p.Ser855Cys)
NM_006766.5(KAT6A):c.2567T>C (p.Leu856Pro)
NM_006766.5(KAT6A):c.2569C>T (p.Pro857Ser)
NM_006766.5(KAT6A):c.256C>T (p.Arg86Trp)
NM_006766.5(KAT6A):c.257G>A (p.Arg86Gln)
NM_006766.5(KAT6A):c.2583G>A (p.Gln861=)
NM_006766.5(KAT6A):c.2583G>T (p.Gln861His)
NM_006766.5(KAT6A):c.2584C>T (p.Pro862Ser)
NM_006766.5(KAT6A):c.2590C>T (p.Arg864Trp)
NM_006766.5(KAT6A):c.2597G>T (p.Gly866Val)
NM_006766.5(KAT6A):c.2599C>T (p.Arg867Cys)
NM_006766.5(KAT6A):c.2603G>C (p.Trp868Ser)
NM_006766.5(KAT6A):c.2604G>C (p.Trp868Cys)
NM_006766.5(KAT6A):c.2609G>A (p.Arg870Lys)
NM_006766.5(KAT6A):c.2612A>T (p.Lys871Met)
NM_006766.5(KAT6A):c.2623A>G (p.Thr875Ala)
NM_006766.5(KAT6A):c.2625C>A (p.Thr875=)
NM_006766.5(KAT6A):c.2627A>C (p.Gln876Pro) rs537857698
NM_006766.5(KAT6A):c.2632C>T (p.Arg878Cys)
NM_006766.5(KAT6A):c.263A>G (p.His88Arg)
NM_006766.5(KAT6A):c.2641G>A (p.Asp881Asn)
NM_006766.5(KAT6A):c.2642A>G (p.Asp881Gly)
NM_006766.5(KAT6A):c.2644A>G (p.Lys882Glu)
NM_006766.5(KAT6A):c.2651C>T (p.Ser884Phe)
NM_006766.5(KAT6A):c.2654A>T (p.Lys885Ile)
NM_006766.5(KAT6A):c.2656C>G (p.Leu886Val)
NM_006766.5(KAT6A):c.2656C>T (p.Leu886=)
NM_006766.5(KAT6A):c.2657T>A (p.Leu886Gln)
NM_006766.5(KAT6A):c.2657T>G (p.Leu886Arg)
NM_006766.5(KAT6A):c.2660T>C (p.Leu887Pro)
NM_006766.5(KAT6A):c.2673G>A (p.Thr891=)
NM_006766.5(KAT6A):c.2676T>G (p.Ser892=)
NM_006766.5(KAT6A):c.267A>G (p.Gly89=)
NM_006766.5(KAT6A):c.2696A>G (p.Tyr899Cys) rs745933378
NM_006766.5(KAT6A):c.2697T>C (p.Tyr899=)
NM_006766.5(KAT6A):c.26A>G (p.Tyr9Cys) rs2150932978
NM_006766.5(KAT6A):c.2700A>T (p.Gly900=)
NM_006766.5(KAT6A):c.2712G>A (p.Glu904=)
NM_006766.5(KAT6A):c.2729A>G (p.Gln910Arg)
NM_006766.5(KAT6A):c.2730G>A (p.Gln910=)
NM_006766.5(KAT6A):c.2736A>G (p.Gln912=)
NM_006766.5(KAT6A):c.2738A>G (p.Tyr913Cys)
NM_006766.5(KAT6A):c.2741C>G (p.Thr914Ser)
NM_006766.5(KAT6A):c.2747G>A (p.Ser916Asn)
NM_006766.5(KAT6A):c.274G>A (p.Asp92Asn)
NM_006766.5(KAT6A):c.2761G>C (p.Val921Leu)
NM_006766.5(KAT6A):c.2764G>A (p.Ala922Thr)
NM_006766.5(KAT6A):c.2764G>T (p.Ala922Ser)
NM_006766.5(KAT6A):c.276T>G (p.Asp92Glu)
NM_006766.5(KAT6A):c.2775G>C (p.Glu925Asp)
NM_006766.5(KAT6A):c.2790C>G (p.Asp930Glu)
NM_006766.5(KAT6A):c.2790C>T (p.Asp930=)
NM_006766.5(KAT6A):c.2796A>T (p.Lys932Asn)
NM_006766.5(KAT6A):c.2798C>G (p.Pro933Arg)
NM_006766.5(KAT6A):c.279T>C (p.Asn93=)
NM_006766.5(KAT6A):c.2802C>T (p.Asp934=)
NM_006766.5(KAT6A):c.2803C>T (p.Leu935Phe)
NM_006766.5(KAT6A):c.2806C>A (p.Pro936Thr) rs367785766
NM_006766.5(KAT6A):c.2809A>G (p.Lys937Glu)
NM_006766.5(KAT6A):c.2812A>G (p.Arg938Gly)
NM_006766.5(KAT6A):c.2817A>G (p.Arg939=)
NM_006766.5(KAT6A):c.2818C>A (p.Leu940Ile)
NM_006766.5(KAT6A):c.2821A>G (p.Ser941Gly)
NM_006766.5(KAT6A):c.2826G>T (p.Glu942Asp)
NM_006766.5(KAT6A):c.2827G>A (p.Gly943Arg)
NM_006766.5(KAT6A):c.2829G>T (p.Gly943=)
NM_006766.5(KAT6A):c.2830G>A (p.Val944Ile)
NM_006766.5(KAT6A):c.2830_2831delinsTG (p.Val944Cys)
NM_006766.5(KAT6A):c.2835G>A (p.Glu945=)
NM_006766.5(KAT6A):c.283_286del (p.Gln95fs)
NM_006766.5(KAT6A):c.2843G>C (p.Arg948Pro)
NM_006766.5(KAT6A):c.2849A>G (p.Gln950Arg)
NM_006766.5(KAT6A):c.2864C>G (p.Pro955Arg) rs761588463
NM_006766.5(KAT6A):c.2864C>T (p.Pro955Leu) rs761588463
NM_006766.5(KAT6A):c.2868_2891dup (p.Glu964_Gly965insAlaLeuLysCysArgLeuThrGlu)
NM_006766.5(KAT6A):c.2869G>C (p.Ala957Pro) rs374802138
NM_006766.5(KAT6A):c.2869_2870delinsTT (p.Ala957Phe)
NM_006766.5(KAT6A):c.2872C>T (p.Leu958=)
NM_006766.5(KAT6A):c.2878T>A (p.Cys960Ser)
NM_006766.5(KAT6A):c.2881_2916del (p.Arg961_Arg972del)
NM_006766.5(KAT6A):c.2884T>G (p.Leu962Val)
NM_006766.5(KAT6A):c.2896A>G (p.Ser966Gly)
NM_006766.5(KAT6A):c.2898T>G (p.Ser966Arg)
NM_006766.5(KAT6A):c.2900A>C (p.Glu967Ala)
NM_006766.5(KAT6A):c.2908C>T (p.Pro970Ser)
NM_006766.5(KAT6A):c.2911C>G (p.Arg971Gly)
NM_006766.5(KAT6A):c.2912G>A (p.Arg971His)
NM_006766.5(KAT6A):c.2913T>A (p.Arg971=)
NM_006766.5(KAT6A):c.2913T>C (p.Arg971=)
NM_006766.5(KAT6A):c.2913_2915del (p.Arg972del)
NM_006766.5(KAT6A):c.2913_2915dup (p.Arg972_Tyr973insArg)
NM_006766.5(KAT6A):c.2914C>A (p.Arg972Ser)
NM_006766.5(KAT6A):c.2914C>G (p.Arg972Gly)
NM_006766.5(KAT6A):c.2914C>T (p.Arg972Cys)
NM_006766.5(KAT6A):c.2915G>A (p.Arg972His)
NM_006766.5(KAT6A):c.2915G>C (p.Arg972Pro) rs376411038
NM_006766.5(KAT6A):c.2918A>G (p.Tyr973Cys)
NM_006766.5(KAT6A):c.2920A>G (p.Ser974Gly)
NM_006766.5(KAT6A):c.2927G>A (p.Gly976Asp)
NM_006766.5(KAT6A):c.2930A>G (p.Asp977Gly)
NM_006766.5(KAT6A):c.2936C>T (p.Ala979Val)
NM_006766.5(KAT6A):c.293A>C (p.Asp98Ala)
NM_006766.5(KAT6A):c.2940C>T (p.Val980=)
NM_006766.5(KAT6A):c.2941C>T (p.Leu981Phe)
NM_006766.5(KAT6A):c.2943C>T (p.Leu981=)
NM_006766.5(KAT6A):c.2949C>T (p.Gly983=)
NM_006766.5(KAT6A):c.294T>C (p.Asp98=)
NM_006766.5(KAT6A):c.2964C>T (p.Ser988=)
NM_006766.5(KAT6A):c.2965G>C (p.Glu989Gln)
NM_006766.5(KAT6A):c.2965GAG[4] (p.Glu993del) rs139076845
NM_006766.5(KAT6A):c.2965GAG[6] (p.Glu993_Pro994insGlu)
NM_006766.5(KAT6A):c.296G>A (p.Trp99Ter) rs1554702654
NM_006766.5(KAT6A):c.2970G>A (p.Glu990=)
NM_006766.5(KAT6A):c.2970G>C (p.Glu990Asp)
NM_006766.5(KAT6A):c.2976G>A (p.Glu992=)
NM_006766.5(KAT6A):c.2978A>C (p.Glu993Ala)
NM_006766.5(KAT6A):c.2980C>T (p.Pro994Ser)
NM_006766.5(KAT6A):c.2981C>A (p.Pro994Gln)
NM_006766.5(KAT6A):c.2981C>T (p.Pro994Leu)
NM_006766.5(KAT6A):c.2986A>T (p.Ser996Cys)
NM_006766.5(KAT6A):c.2992C>T (p.Arg998Trp)
NM_006766.5(KAT6A):c.2993G>A (p.Arg998Gln)
NM_006766.5(KAT6A):c.2995T>G (p.Ser999Ala)
NM_006766.5(KAT6A):c.3003G>A (p.Ser1001=)
NM_006766.5(KAT6A):c.3004C>A (p.Pro1002Thr)
NM_006766.5(KAT6A):c.3006A>G (p.Pro1002=)
NM_006766.5(KAT6A):c.3008C>T (p.Pro1003Leu)
NM_006766.5(KAT6A):c.3009A>G (p.Pro1003=)
NM_006766.5(KAT6A):c.3010A>T (p.Ile1004Phe)
NM_006766.5(KAT6A):c.3015C>T (p.Leu1005=)
NM_006766.5(KAT6A):c.3032A>C (p.Lys1011Thr) rs1822080060
NM_006766.5(KAT6A):c.3034C>T (p.Arg1012Ter) rs768856558
NM_006766.5(KAT6A):c.3035G>A (p.Arg1012Gln)
NM_006766.5(KAT6A):c.3038A>G (p.Lys1013Arg)
NM_006766.5(KAT6A):c.3039+11T>A
NM_006766.5(KAT6A):c.3039+158C>A rs2929896
NM_006766.5(KAT6A):c.3039+18_3039+19del
NM_006766.5(KAT6A):c.3039+1G>T rs1554681382
NM_006766.5(KAT6A):c.3039+1del rs1554681385
NM_006766.5(KAT6A):c.3039+5C>G
NM_006766.5(KAT6A):c.3039+5C>T
NM_006766.5(KAT6A):c.3039+6G>A
NM_006766.5(KAT6A):c.3039+8A>G
NM_006766.5(KAT6A):c.3040-18G>C
NM_006766.5(KAT6A):c.3040-2A>G
NM_006766.5(KAT6A):c.3040-6A>G
NM_006766.5(KAT6A):c.3040-8T>C rs1472003509
NM_006766.5(KAT6A):c.3040-9_3040-8del rs1554680912
NM_006766.5(KAT6A):c.3045A>G (p.Pro1015=)
NM_006766.5(KAT6A):c.304C>G (p.Leu102Val) rs1164383666
NM_006766.5(KAT6A):c.3052C>T (p.His1018Tyr)
NM_006766.5(KAT6A):c.3052del (p.His1018fs)
NM_006766.5(KAT6A):c.3055C>T (p.Arg1019Ter) rs1554680902
NM_006766.5(KAT6A):c.3057A>T (p.Arg1019=)
NM_006766.5(KAT6A):c.3062G>A (p.Arg1021Lys)
NM_006766.5(KAT6A):c.3065G>C (p.Arg1022Thr)
NM_006766.5(KAT6A):c.3066A>G (p.Arg1022=)
NM_006766.5(KAT6A):c.3070C>T (p.Arg1024Ter) rs786200961
NM_006766.5(KAT6A):c.3071G>A (p.Arg1024Gln)
NM_006766.5(KAT6A):c.3078C>T (p.Arg1026=)
NM_006766.5(KAT6A):c.3081A>C (p.Lys1027Asn)
NM_006766.5(KAT6A):c.3086A>G (p.His1029Arg)
NM_006766.5(KAT6A):c.3090T>C (p.Asn1030=)
NM_006766.5(KAT6A):c.3131T>G (p.Val1044Gly) rs2150858888
NM_006766.5(KAT6A):c.313C>T (p.Arg105Trp)
NM_006766.5(KAT6A):c.314G>A (p.Arg105Gln)
NM_006766.5(KAT6A):c.3153T>C (p.Asp1051=)
NM_006766.5(KAT6A):c.3159C>G (p.Asp1053Glu)
NM_006766.5(KAT6A):c.3172A>G (p.Met1058Val)
NM_006766.5(KAT6A):c.3175C>T (p.Pro1059Ser)
NM_006766.5(KAT6A):c.3177A>G (p.Pro1059=)
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.318A>G (p.Ala106=)
NM_006766.5(KAT6A):c.3191C>T (p.Thr1064Met)
NM_006766.5(KAT6A):c.3194T>C (p.Phe1065Ser)
NM_006766.5(KAT6A):c.3196G>A (p.Glu1066Lys)
NM_006766.5(KAT6A):c.3201C>T (p.Ile1067=)
NM_006766.5(KAT6A):c.3202G>A (p.Asp1068Asn) rs187168141
NM_006766.5(KAT6A):c.3203A>G (p.Asp1068Gly)
NM_006766.5(KAT6A):c.3206A>G (p.Glu1069Gly)
NM_006766.5(KAT6A):c.3212A>C (p.Glu1071Ala) rs1131691516
NM_006766.5(KAT6A):c.3222G>A (p.Glu1074=)
NM_006766.5(KAT6A):c.3225T>C (p.Asp1075=) rs1564007788
NM_006766.5(KAT6A):c.3227A>C (p.Glu1076Ala)
NM_006766.5(KAT6A):c.3228A>G (p.Glu1076=)
NM_006766.5(KAT6A):c.3230del (p.Asn1077fs) rs2150858815
NM_006766.5(KAT6A):c.3235C>G (p.Leu1079Val)
NM_006766.5(KAT6A):c.3240C>G (p.Phe1080Leu)
NM_006766.5(KAT6A):c.3248A>G (p.Glu1083Gly)
NM_006766.5(KAT6A):c.3249A>G (p.Glu1083=)
NM_006766.5(KAT6A):c.3250T>C (p.Tyr1084His)
NM_006766.5(KAT6A):c.3256C>A (p.Arg1086Ser)
NM_006766.5(KAT6A):c.3257G>A (p.Arg1086His)
NM_006766.5(KAT6A):c.3259C>T (p.Arg1087Cys)
NM_006766.5(KAT6A):c.325G>A (p.Gly109Ser)
NM_006766.5(KAT6A):c.325G>T (p.Gly109Cys)
NM_006766.5(KAT6A):c.3260G>A (p.Arg1087His)
NM_006766.5(KAT6A):c.3263T>G (p.Leu1088Trp)
NM_006766.5(KAT6A):c.3264G>T (p.Leu1088Phe) rs978156504
NM_006766.5(KAT6A):c.3270G>C (p.Ser1090=)
NM_006766.5(KAT6A):c.3270G>T (p.Ser1090=)
NM_006766.5(KAT6A):c.3271C>A (p.Gln1091Lys)
NM_006766.5(KAT6A):c.3272A>G (p.Gln1091Arg)
NM_006766.5(KAT6A):c.327C>T (p.Gly109=)
NM_006766.5(KAT6A):c.3280C>G (p.Leu1094Val)
NM_006766.5(KAT6A):c.3285G>A (p.Arg1095=)
NM_006766.5(KAT6A):c.3287G>A (p.Cys1096Tyr)
NM_006766.5(KAT6A):c.3294C>G (p.Ser1098=)
NM_006766.5(KAT6A):c.3316G>A (p.Asp1106Asn)
NM_006766.5(KAT6A):c.3318T>A (p.Asp1106Glu)
NM_006766.5(KAT6A):c.3321AGA[1] (p.Glu1108_Glu1109del)
NM_006766.5(KAT6A):c.3321AGA[2] (p.Glu1109del) rs3837198
NM_006766.5(KAT6A):c.3327A>T (p.Glu1109Asp)
NM_006766.5(KAT6A):c.3328G>T (p.Asp1110Tyr)
NM_006766.5(KAT6A):c.3333A>G (p.Glu1111=)
NM_006766.5(KAT6A):c.3344A>C (p.Asp1115Ala) rs2150858728
NM_006766.5(KAT6A):c.3347C>G (p.Ala1116Gly)
NM_006766.5(KAT6A):c.3348_3349dup (p.Asp1117fs)
NM_006766.5(KAT6A):c.334G>A (p.Glu112Lys)
NM_006766.5(KAT6A):c.3351T>C (p.Asp1117=)
NM_006766.5(KAT6A):c.3352+10A>G
NM_006766.5(KAT6A):c.3352+3A>G
NM_006766.5(KAT6A):c.3352+4T>G
NM_006766.5(KAT6A):c.3352+6T>G
NM_006766.5(KAT6A):c.3353-16_3353-15insC
NM_006766.5(KAT6A):c.3353-17T>A
NM_006766.5(KAT6A):c.3353-1G>A rs1351334408
NM_006766.5(KAT6A):c.3353-22_3353-19del
NM_006766.5(KAT6A):c.3353-22_3353-19dup
NM_006766.5(KAT6A):c.3353-3T>C
NM_006766.5(KAT6A):c.3353-3_3353dup rs1554680316
NM_006766.5(KAT6A):c.3353-4A>G rs762302738
NM_006766.5(KAT6A):c.3353-9C>G
NM_006766.5(KAT6A):c.3353A>G (p.Asp1118Gly)
NM_006766.5(KAT6A):c.3356C>G (p.Thr1119Ser)
NM_006766.5(KAT6A):c.335A>T (p.Glu112Val)
NM_006766.5(KAT6A):c.3361A>G (p.Ile1121Val)
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) rs786200960
NM_006766.5(KAT6A):c.3389A>G (p.Lys1130Arg)
NM_006766.5(KAT6A):c.3395A>G (p.Asp1132Gly)
NM_006766.5(KAT6A):c.3397G>A (p.Val1133Met)
NM_006766.5(KAT6A):c.339T>C (p.Ser113=)
NM_006766.5(KAT6A):c.3402G>A (p.Lys1134=)
NM_006766.5(KAT6A):c.3409C>T (p.Pro1137Ser)
NM_006766.5(KAT6A):c.3410C>T (p.Pro1137Leu)
NM_006766.5(KAT6A):c.3412C>T (p.Leu1138Phe) rs1821769106
NM_006766.5(KAT6A):c.3412del (p.Glu1139fs) rs1554680267
NM_006766.5(KAT6A):c.3413T>C (p.Leu1138Pro)
NM_006766.5(KAT6A):c.3414T>C (p.Leu1138=)
NM_006766.5(KAT6A):c.3417G>A (p.Glu1139=)
NM_006766.5(KAT6A):c.3422A>G (p.Asp1141Gly)
NM_006766.5(KAT6A):c.3422A>T (p.Asp1141Val)
NM_006766.5(KAT6A):c.3430A>G (p.Thr1144Ala)
NM_006766.5(KAT6A):c.3432dup (p.Pro1145fs) rs886041731
NM_006766.5(KAT6A):c.3474C>G (p.Arg1158=)
NM_006766.5(KAT6A):c.3481A>G (p.Ile1161Val)
NM_006766.5(KAT6A):c.3481A>T (p.Ile1161Phe)
NM_006766.5(KAT6A):c.3485A>T (p.His1162Leu) rs1821764895
NM_006766.5(KAT6A):c.348A>T (p.Ser116=)
NM_006766.5(KAT6A):c.3495A>G (p.Lys1165=)
NM_006766.5(KAT6A):c.3505C>T (p.Arg1169Ter) rs886042000
NM_006766.5(KAT6A):c.3506G>A (p.Arg1169Gln)
NM_006766.5(KAT6A):c.3525G>T (p.Leu1175Phe)
NM_006766.5(KAT6A):c.3529C>T (p.Arg1177Trp)
NM_006766.5(KAT6A):c.3530G>A (p.Arg1177Gln)
NM_006766.5(KAT6A):c.3535A>G (p.Ile1179Val)
NM_006766.5(KAT6A):c.3553C>T (p.Gln1185Ter) rs374290942
NM_006766.5(KAT6A):c.3562G>A (p.Val1188Ile)
NM_006766.5(KAT6A):c.3569A>C (p.Glu1190Ala)
NM_006766.5(KAT6A):c.3572C>A (p.Pro1191His)
NM_006766.5(KAT6A):c.3576C>A (p.Ile1192=)
NM_006766.5(KAT6A):c.3576C>T (p.Ile1192=) rs61753682
NM_006766.5(KAT6A):c.3589A>G (p.Lys1197Glu)
NM_006766.5(KAT6A):c.3598C>T (p.Arg1200Cys)
NM_006766.5(KAT6A):c.3599G>A (p.Arg1200His)
NM_006766.5(KAT6A):c.3599G>C (p.Arg1200Pro)
NM_006766.5(KAT6A):c.3609dup (p.Ile1204fs)
NM_006766.5(KAT6A):c.3612C>G (p.Ile1204Met)
NM_006766.5(KAT6A):c.3612C>T (p.Ile1204=)
NM_006766.5(KAT6A):c.3614A>G (p.Gln1205Arg)
NM_006766.5(KAT6A):c.3615G>A (p.Gln1205=)
NM_006766.5(KAT6A):c.3628A>G (p.Thr1210Ala)
NM_006766.5(KAT6A):c.3634G>A (p.Glu1212Lys)
NM_006766.5(KAT6A):c.3638C>G (p.Pro1213Arg)
NM_006766.5(KAT6A):c.3638C>T (p.Pro1213Leu)
NM_006766.5(KAT6A):c.3653C>G (p.Pro1218Arg)
NM_006766.5(KAT6A):c.3653C>T (p.Pro1218Leu)
NM_006766.5(KAT6A):c.3654C>A (p.Pro1218=)
NM_006766.5(KAT6A):c.3661G>A (p.Glu1221Lys)
NM_006766.5(KAT6A):c.3661G>T (p.Glu1221Ter) rs139494583
NM_006766.5(KAT6A):c.3666G>C (p.Glu1222Asp)
NM_006766.5(KAT6A):c.3670A>G (p.Lys1224Glu)
NM_006766.5(KAT6A):c.3670_3675del (p.Lys1224_Glu1225del) rs1821752448
NM_006766.5(KAT6A):c.3671A>G (p.Lys1224Arg)
NM_006766.5(KAT6A):c.3673GAG[3] (p.Glu1228del)
NM_006766.5(KAT6A):c.3673GAG[5] (p.Glu1228_Met1229insGlu)
NM_006766.5(KAT6A):c.367C>T (p.Arg123Cys)
NM_006766.5(KAT6A):c.3688C>G (p.Gln1230Glu)
NM_006766.5(KAT6A):c.368G>A (p.Arg123His)
NM_006766.5(KAT6A):c.3699_3707del (p.1233AEE[1])
NM_006766.5(KAT6A):c.3699_3719del (p.Ala1236_Glu1242del)
NM_006766.5(KAT6A):c.3716G>A (p.Gly1239Asp)
NM_006766.5(KAT6A):c.3717T>A (p.Gly1239=)
NM_006766.5(KAT6A):c.3723A>G (p.Glu1241=)
NM_006766.5(KAT6A):c.3728A>G (p.Asp1243Gly)
NM_006766.5(KAT6A):c.3736A>T (p.Ser1246Cys)
NM_006766.5(KAT6A):c.3739A>C (p.Ser1247Arg)
NM_006766.5(KAT6A):c.3739A>G (p.Ser1247Gly)
NM_006766.5(KAT6A):c.3746T>G (p.Val1249Gly)
NM_006766.5(KAT6A):c.3747_3758del (p.Ala1252_Ala1255del)
NM_006766.5(KAT6A):c.3754G>C (p.Ala1252Pro)
NM_006766.5(KAT6A):c.3760C>T (p.Pro1254Ser)
NM_006766.5(KAT6A):c.3766G>A (p.Asp1256Asn)
NM_006766.5(KAT6A):c.3767A>T (p.Asp1256Val)
NM_006766.5(KAT6A):c.3775A>G (p.Asn1259Asp) rs1240578716
NM_006766.5(KAT6A):c.3776A>G (p.Asn1259Ser)
NM_006766.5(KAT6A):c.3778A>G (p.Ser1260Gly) rs774544767
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.3788C>T (p.Thr1263Ile)
NM_006766.5(KAT6A):c.3789C>T (p.Thr1263=)
NM_006766.5(KAT6A):c.3797A>G (p.Lys1266Arg)
NM_006766.5(KAT6A):c.3798G>A (p.Lys1266=)
NM_006766.5(KAT6A):c.3801G>C (p.Glu1267Asp)
NM_006766.5(KAT6A):c.3806A>G (p.Glu1269Gly)
NM_006766.5(KAT6A):c.3808G>A (p.Val1270Met)
NM_006766.5(KAT6A):c.3808G>T (p.Val1270Leu) rs780558768
NM_006766.5(KAT6A):c.3809T>G (p.Val1270Gly)
NM_006766.5(KAT6A):c.380G>T (p.Gly127Val)
NM_006766.5(KAT6A):c.3813G>A (p.Glu1271=)
NM_006766.5(KAT6A):c.3819A>G (p.Glu1273=)
NM_006766.5(KAT6A):c.3823G>C (p.Glu1275Gln)
NM_006766.5(KAT6A):c.3824A>C (p.Glu1275Ala)
NM_006766.5(KAT6A):c.3830C>T (p.Pro1277Leu)
NM_006766.5(KAT6A):c.3830_3831insTT (p.Arg1278fs) rs786200955
NM_006766.5(KAT6A):c.3832C>T (p.Arg1278Cys)
NM_006766.5(KAT6A):c.3834T>C (p.Arg1278=)
NM_006766.5(KAT6A):c.3837C>T (p.Val1279=)
NM_006766.5(KAT6A):c.3846G>C (p.Glu1282Asp)
NM_006766.5(KAT6A):c.3847_3864del (p.Gln1283_Glu1288del)
NM_006766.5(KAT6A):c.3852G>A (p.Arg1284=)
NM_006766.5(KAT6A):c.3856_3859del (p.Ser1286fs)
NM_006766.5(KAT6A):c.3859GAG[2] (p.Glu1289del) rs747034971
NM_006766.5(KAT6A):c.3860A>T (p.Glu1287Val)
NM_006766.5(KAT6A):c.3861G>A (p.Glu1287=)
NM_006766.5(KAT6A):c.3862G>A (p.Glu1288Lys)
NM_006766.5(KAT6A):c.3865G>A (p.Glu1289Lys)
NM_006766.5(KAT6A):c.3872A>G (p.Gln1291Arg)
NM_006766.5(KAT6A):c.3874G>A (p.Glu1292Lys)
NM_006766.5(KAT6A):c.3885G>A (p.Glu1295=)
NM_006766.5(KAT6A):c.3886CCAGAG[3] (p.Glu1299_Glu1300insProGlu)
NM_006766.5(KAT6A):c.3889G>A (p.Glu1297Lys)
NM_006766.5(KAT6A):c.388G>T (p.Asp130Tyr)
NM_006766.5(KAT6A):c.3891G>A (p.Glu1297=)
NM_006766.5(KAT6A):c.3900G>C (p.Glu1300Asp)
NM_006766.5(KAT6A):c.3907G>T (p.Asp1303Tyr)
NM_006766.5(KAT6A):c.3910G>A (p.Ala1304Thr)
NM_006766.5(KAT6A):c.3915T>C (p.Ala1305=)
NM_006766.5(KAT6A):c.3915T>G (p.Ala1305=)
NM_006766.5(KAT6A):c.3927C>T (p.Ala1309=)
NM_006766.5(KAT6A):c.3937G>A (p.Asp1313Asn)
NM_006766.5(KAT6A):c.3937G>T (p.Asp1313Tyr)
NM_006766.5(KAT6A):c.3942C>T (p.His1314=)
NM_006766.5(KAT6A):c.3945C>T (p.Asp1315=)
NM_006766.5(KAT6A):c.3946G>A (p.Ala1316Thr)
NM_006766.5(KAT6A):c.3955G>A (p.Glu1319Lys)
NM_006766.5(KAT6A):c.3960T>C (p.Asp1320=)
NM_006766.5(KAT6A):c.3964G>A (p.Gly1322Ser)
NM_006766.5(KAT6A):c.3970C>G (p.Leu1324Val)
NM_006766.5(KAT6A):c.3973G>T (p.Glu1325Ter) rs563126698
NM_006766.5(KAT6A):c.3976T>A (p.Ser1326Thr)
NM_006766.5(KAT6A):c.3985A>G (p.Lys1329Glu)
NM_006766.5(KAT6A):c.3991G>A (p.Glu1331Lys)
NM_006766.5(KAT6A):c.3995T>C (p.Leu1332Pro)
NM_006766.5(KAT6A):c.399A>G (p.Ala133=)
NM_006766.5(KAT6A):c.4000G>A (p.Glu1334Lys)
NM_006766.5(KAT6A):c.4003C>T (p.Gln1335Ter)
NM_006766.5(KAT6A):c.4010C>T (p.Thr1337Met)
NM_006766.5(KAT6A):c.4011G>A (p.Thr1337=)
NM_006766.5(KAT6A):c.4011G>C (p.Thr1337=)
NM_006766.5(KAT6A):c.4015G>C (p.Glu1339Gln)
NM_006766.5(KAT6A):c.4016A>G (p.Glu1339Gly)
NM_006766.5(KAT6A):c.4025del (p.Lys1342fs) rs1064793955
NM_006766.5(KAT6A):c.4032G>C (p.Glu1344Asp)
NM_006766.5(KAT6A):c.4036G>A (p.Gly1346Ser)
NM_006766.5(KAT6A):c.4037del (p.Gly1346fs) rs1587709269
NM_006766.5(KAT6A):c.4038del (p.Val1347fs) rs1564005155
NM_006766.5(KAT6A):c.4044A>G (p.Gln1348=)
NM_006766.5(KAT6A):c.4047G>C (p.Glu1349Asp)
NM_006766.5(KAT6A):c.4055del (p.Phe1351_Leu1352insTer)
NM_006766.5(KAT6A):c.405C>T (p.Phe135=)
NM_006766.5(KAT6A):c.4061C>G (p.Ala1354Gly)
NM_006766.5(KAT6A):c.406G>A (p.Gly136Arg) rs1471098185
NM_006766.5(KAT6A):c.4076G>A (p.Ser1359Asn)
NM_006766.5(KAT6A):c.4081G>A (p.Glu1361Lys)
NM_006766.5(KAT6A):c.4082A>G (p.Glu1361Gly)
NM_006766.5(KAT6A):c.4085del (p.Lys1362fs) rs2150856458
NM_006766.5(KAT6A):c.408A>T (p.Gly136=)
NM_006766.5(KAT6A):c.4092G>A (p.Lys1364=)
NM_006766.5(KAT6A):c.4094A>G (p.Asp1365Gly)
NM_006766.5(KAT6A):c.4096A>G (p.Lys1366Glu)
NM_006766.5(KAT6A):c.4103A>T (p.Glu1368Val)
NM_006766.5(KAT6A):c.4106C>T (p.Thr1369Ile)
NM_006766.5(KAT6A):c.4107C>T (p.Thr1369=)
NM_006766.5(KAT6A):c.4108G>A (p.Glu1370Lys)
NM_006766.5(KAT6A):c.4108G>C (p.Glu1370Gln)
NM_006766.5(KAT6A):c.4108G>T (p.Glu1370Ter) rs138944476
NM_006766.5(KAT6A):c.4113G>C (p.Leu1371=)
NM_006766.5(KAT6A):c.4118_4119delinsTT (p.Ser1373Phe)
NM_006766.5(KAT6A):c.4124A>G (p.Glu1375Gly)
NM_006766.5(KAT6A):c.4130A>C (p.Gln1377Pro)
NM_006766.5(KAT6A):c.4133C>T (p.Pro1378Leu)
NM_006766.5(KAT6A):c.4136C>A (p.Ser1379Tyr)
NM_006766.5(KAT6A):c.4137C>G (p.Ser1379=)
NM_006766.5(KAT6A):c.4138C>T (p.His1380Tyr)
NM_006766.5(KAT6A):c.4139A>G (p.His1380Arg)
NM_006766.5(KAT6A):c.413G>A (p.Ser138Asn)
NM_006766.5(KAT6A):c.4145C>T (p.Thr1382Met)
NM_006766.5(KAT6A):c.4154T>C (p.Val1385Ala)
NM_006766.5(KAT6A):c.4155G>A (p.Val1385=)
NM_006766.5(KAT6A):c.4164G>C (p.Gln1388His)
NM_006766.5(KAT6A):c.4183G>A (p.Asp1395Asn)
NM_006766.5(KAT6A):c.4185C>T (p.Asp1395=)
NM_006766.5(KAT6A):c.4186C>T (p.His1396Tyr)
NM_006766.5(KAT6A):c.4188C>G (p.His1396Gln) rs780955932
NM_006766.5(KAT6A):c.4188C>T (p.His1396=)
NM_006766.5(KAT6A):c.4189G>A (p.Glu1397Lys)
NM_006766.5(KAT6A):c.4191A>G (p.Glu1397=)
NM_006766.5(KAT6A):c.4193A>G (p.Glu1398Gly)
NM_006766.5(KAT6A):c.4198T>A (p.Ser1400Thr)
NM_006766.5(KAT6A):c.4203C>A (p.His1401Gln)
NM_006766.5(KAT6A):c.4210dup (p.Glu1404fs) rs1057518543
NM_006766.5(KAT6A):c.4212A>G (p.Glu1404=)
NM_006766.5(KAT6A):c.4216T>A (p.Leu1406Ile)
NM_006766.5(KAT6A):c.4217T>C (p.Leu1406Ser)
NM_006766.5(KAT6A):c.4221C>A (p.Ile1407=)
NM_006766.5(KAT6A):c.4221C>T (p.Ile1407=)
NM_006766.5(KAT6A):c.4223A>C (p.Glu1408Ala)
NM_006766.5(KAT6A):c.4225T>C (p.Leu1409=)
NM_006766.5(KAT6A):c.4228_4232del (p.Lys1410fs) rs1554679889
NM_006766.5(KAT6A):c.4233GGA[1] (p.Glu1414del)
NM_006766.5(KAT6A):c.4235A>T (p.Glu1412Val)
NM_006766.5(KAT6A):c.4242G>C (p.Glu1414Asp)
NM_006766.5(KAT6A):c.4249C>G (p.His1417Asp)
NM_006766.5(KAT6A):c.4250A>G (p.His1417Arg)
NM_006766.5(KAT6A):c.4251T>C (p.His1417=)
NM_006766.5(KAT6A):c.4256_4260dup (p.Asp1421fs) rs1587708739
NM_006766.5(KAT6A):c.4259T>C (p.Leu1420Pro)
NM_006766.5(KAT6A):c.4266G>A (p.Leu1422=)
NM_006766.5(KAT6A):c.4273_4274del (p.Val1425fs) rs2150856278
NM_006766.5(KAT6A):c.4277A>T (p.Gln1426Leu)
NM_006766.5(KAT6A):c.4284G>T (p.Val1428=)
NM_006766.5(KAT6A):c.4292dup (p.Leu1431fs) rs786200956
NM_006766.5(KAT6A):c.4299A>G (p.Gln1433=)
NM_006766.5(KAT6A):c.4308C>T (p.Ser1436=) rs750902324
NM_006766.5(KAT6A):c.4311T>C (p.Ser1437=)
NM_006766.5(KAT6A):c.4316A>C (p.His1439Pro)
NM_006766.5(KAT6A):c.431A>T (p.His144Leu)
NM_006766.5(KAT6A):c.4323C>T (p.Gly1441=)
NM_006766.5(KAT6A):c.4341G>A (p.Glu1447=)
NM_006766.5(KAT6A):c.4342G>A (p.Glu1448Lys)
NM_006766.5(KAT6A):c.4348C>G (p.Leu1450Val)
NM_006766.5(KAT6A):c.4348_4349del (p.Leu1450fs)
NM_006766.5(KAT6A):c.4352C>T (p.Ala1451Val)
NM_006766.5(KAT6A):c.4353G>A (p.Ala1451=)
NM_006766.5(KAT6A):c.4355C>T (p.Ala1452Val)
NM_006766.5(KAT6A):c.4356G>A (p.Ala1452=)
NM_006766.5(KAT6A):c.4358G>A (p.Cys1453Tyr)
NM_006766.5(KAT6A):c.4358G>T (p.Cys1453Phe)
NM_006766.5(KAT6A):c.4361dup (p.Thr1455fs) rs1554679835
NM_006766.5(KAT6A):c.4364C>T (p.Thr1455Ile)
NM_006766.5(KAT6A):c.4366C>T (p.Leu1456=)
NM_006766.5(KAT6A):c.4370A>G (p.Gln1457Arg)
NM_006766.5(KAT6A):c.4371G>T (p.Gln1457His)
NM_006766.5(KAT6A):c.4372_4373del (p.Ser1458fs) rs1587708558
NM_006766.5(KAT6A):c.4372_4383del (p.Ser1458_Gln1461del)
NM_006766.5(KAT6A):c.4377C>T (p.Tyr1459=)
NM_006766.5(KAT6A):c.4380C>G (p.Thr1460=)
NM_006766.5(KAT6A):c.4381C>T (p.Gln1461Ter) rs1057524195
NM_006766.5(KAT6A):c.4382A>G (p.Gln1461Arg)
NM_006766.5(KAT6A):c.4390G>A (p.Glu1464Lys)
NM_006766.5(KAT6A):c.4395C>A (p.Asp1465Glu)
NM_006766.5(KAT6A):c.4395C>T (p.Asp1465=)
NM_006766.5(KAT6A):c.4396C>T (p.Pro1466Ser)
NM_006766.5(KAT6A):c.4399C>T (p.Gln1467Ter) rs1064795648
NM_006766.5(KAT6A):c.4410G>C (p.Met1470Ile)
NM_006766.5(KAT6A):c.4411G>A (p.Val1471Ile)
NM_006766.5(KAT6A):c.4412T>C (p.Val1471Ala)
NM_006766.5(KAT6A):c.4420T>A (p.Cys1474Ser) rs1821692071
NM_006766.5(KAT6A):c.4424A>G (p.His1475Arg)
NM_006766.5(KAT6A):c.4425T>C (p.His1475=)
NM_006766.5(KAT6A):c.4427C>A (p.Ala1476Glu)
NM_006766.5(KAT6A):c.4427C>T (p.Ala1476Val)
NM_006766.5(KAT6A):c.4428G>A (p.Ala1476=)
NM_006766.5(KAT6A):c.4437T>C (p.His1479=)
NM_006766.5(KAT6A):c.443G>C (p.Arg148Pro)
NM_006766.5(KAT6A):c.4443C>A (p.Ser1481Arg)
NM_006766.5(KAT6A):c.4443C>T (p.Ser1481=)
NM_006766.5(KAT6A):c.4444C>T (p.Pro1482Ser)
NM_006766.5(KAT6A):c.4446T>C (p.Pro1482=)
NM_006766.5(KAT6A):c.444A>G (p.Arg148=)
NM_006766.5(KAT6A):c.4451C>G (p.Ser1484Cys)
NM_006766.5(KAT6A):c.4453T>A (p.Ser1485Thr)
NM_006766.5(KAT6A):c.4456G>A (p.Val1486Ile)
NM_006766.5(KAT6A):c.445T>C (p.Leu149=)
NM_006766.5(KAT6A):c.4469C>A (p.Pro1490His)
NM_006766.5(KAT6A):c.4469C>T (p.Pro1490Leu)
NM_006766.5(KAT6A):c.4475A>G (p.Gln1492Arg)
NM_006766.5(KAT6A):c.4483C>T (p.Arg1495Cys)
NM_006766.5(KAT6A):c.4484G>A (p.Arg1495His)
NM_006766.5(KAT6A):c.4488G>A (p.Ser1496=)
NM_006766.5(KAT6A):c.4488G>T (p.Ser1496=)
NM_006766.5(KAT6A):c.4502A>G (p.Asn1501Ser)
NM_006766.5(KAT6A):c.4504G>A (p.Val1502Met)
NM_006766.5(KAT6A):c.4507C>T (p.Pro1503Ser)
NM_006766.5(KAT6A):c.4510G>A (p.Ala1504Thr)
NM_006766.5(KAT6A):c.4517A>G (p.Glu1506Gly)
NM_006766.5(KAT6A):c.4518G>A (p.Glu1506=)
NM_006766.5(KAT6A):c.4519A>G (p.Ser1507Gly)
NM_006766.5(KAT6A):c.451A>G (p.Ile151Val)
NM_006766.5(KAT6A):c.4525T>C (p.Tyr1509His)
NM_006766.5(KAT6A):c.4527C>T (p.Tyr1509=)
NM_006766.5(KAT6A):c.4529C>T (p.Thr1510Ile) rs1281540872
NM_006766.5(KAT6A):c.4534A>G (p.Ile1512Val)
NM_006766.5(KAT6A):c.4543G>C (p.Glu1515Gln)
NM_006766.5(KAT6A):c.4550G>A (p.Gly1517Glu)
NM_006766.5(KAT6A):c.4550G>T (p.Gly1517Val)
NM_006766.5(KAT6A):c.4552T>C (p.Ser1518Pro)
NM_006766.5(KAT6A):c.4561G>A (p.Ala1521Thr)
NM_006766.5(KAT6A):c.4568C>T (p.Ser1523Phe)
NM_006766.5(KAT6A):c.4571T>C (p.Met1524Thr)
NM_006766.5(KAT6A):c.4575G>A (p.Gln1525=)
NM_006766.5(KAT6A):c.4579A>G (p.Met1527Val)
NM_006766.5(KAT6A):c.4586C>G (p.Thr1529Ser)
NM_006766.5(KAT6A):c.4592C>G (p.Pro1531Arg)
NM_006766.5(KAT6A):c.4593C>T (p.Pro1531=)
NM_006766.5(KAT6A):c.4594A>T (p.Met1532Leu) rs1476341397
NM_006766.5(KAT6A):c.4598T>C (p.Met1533Thr) rs1821679735
NM_006766.5(KAT6A):c.4612G>A (p.Val1538Ile)
NM_006766.5(KAT6A):c.4626T>G (p.Ser1542=)
NM_006766.5(KAT6A):c.4633G>A (p.Val1545Met)
NM_006766.5(KAT6A):c.4637T>C (p.Val1546Ala)
NM_006766.5(KAT6A):c.4638G>A (p.Val1546=)
NM_006766.5(KAT6A):c.4641C>T (p.Asp1547=)
NM_006766.5(KAT6A):c.4642A>C (p.Ser1548Arg)
NM_006766.5(KAT6A):c.4644C>T (p.Ser1548=)
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser) rs1064794000
NM_006766.5(KAT6A):c.464T>C (p.Ile155Thr)
NM_006766.5(KAT6A):c.4658T>C (p.Leu1553Pro)
NM_006766.5(KAT6A):c.4669G>A (p.Glu1557Lys)
NM_006766.5(KAT6A):c.4671G>A (p.Glu1557=)
NM_006766.5(KAT6A):c.4677C>T (p.Thr1559=)
NM_006766.5(KAT6A):c.4680T>C (p.Thr1560=)
NM_006766.5(KAT6A):c.4682A>C (p.Glu1561Ala)
NM_006766.5(KAT6A):c.4688A>T (p.Tyr1563Phe) rs1821676544
NM_006766.5(KAT6A):c.4692G>A (p.Glu1564=)
NM_006766.5(KAT6A):c.4707C>G (p.Tyr1569Ter)
NM_006766.5(KAT6A):c.4708G>A (p.Asp1570Asn)
NM_006766.5(KAT6A):c.4715C>T (p.Thr1572Met)
NM_006766.5(KAT6A):c.4716G>A (p.Thr1572=)
NM_006766.5(KAT6A):c.471C>T (p.His157=)
NM_006766.5(KAT6A):c.4720G>A (p.Gly1574Ser)
NM_006766.5(KAT6A):c.4723G>A (p.Gly1575Ser)
NM_006766.5(KAT6A):c.4727G>A (p.Ser1576Asn)
NM_006766.5(KAT6A):c.4737G>A (p.Gly1579=)
NM_006766.5(KAT6A):c.4740C>T (p.Asn1580=)
NM_006766.5(KAT6A):c.4742G>C (p.Ser1581Thr)
NM_006766.5(KAT6A):c.4746T>G (p.Ser1582=)
NM_006766.5(KAT6A):c.4752G>C (p.Gln1584His) rs2150855858
NM_006766.5(KAT6A):c.4754G>A (p.Ser1585Asn)
NM_006766.5(KAT6A):c.4764C>G (p.Ser1588=)
NM_006766.5(KAT6A):c.4769G>T (p.Gly1590Val)
NM_006766.5(KAT6A):c.4774C>T (p.Leu1592=)
NM_006766.5(KAT6A):c.4776GTC[1] (p.Ser1597del) rs779024326
NM_006766.5(KAT6A):c.4778C>T (p.Ser1593Leu)
NM_006766.5(KAT6A):c.4792C>A (p.Leu1598Ile)
NM_006766.5(KAT6A):c.4795A>T (p.Thr1599Ser)
NM_006766.5(KAT6A):c.479T>C (p.Leu160Pro)
NM_006766.5(KAT6A):c.4801A>G (p.Ser1601Gly)
NM_006766.5(KAT6A):c.4808G>A (p.Cys1603Tyr)
NM_006766.5(KAT6A):c.4808G>C (p.Cys1603Ser)
NM_006766.5(KAT6A):c.480C>T (p.Leu160=)
NM_006766.5(KAT6A):c.4819C>T (p.Gln1607Ter) rs1554679654
NM_006766.5(KAT6A):c.4834A>T (p.Met1612Leu)
NM_006766.5(KAT6A):c.4836G>A (p.Met1612Ile)
NM_006766.5(KAT6A):c.4837_4854del (p.Gly1613_Met1618del)
NM_006766.5(KAT6A):c.4837_4854dup (p.Gly1613_Met1618dup) rs1821666176
NM_006766.5(KAT6A):c.4842C>A (p.Ser1614Arg)
NM_006766.5(KAT6A):c.4845C>T (p.Ser1615=)
NM_006766.5(KAT6A):c.484A>G (p.Lys162Glu)
NM_006766.5(KAT6A):c.4857G>A (p.Met1619Ile)
NM_006766.5(KAT6A):c.4859A>G (p.Gln1620Arg)
NM_006766.5(KAT6A):c.4860G>A (p.Gln1620=)
NM_006766.5(KAT6A):c.4869C>T (p.Ser1623=)
NM_006766.5(KAT6A):c.4880C>G (p.Ala1627Gly)
NM_006766.5(KAT6A):c.4882G>A (p.Ala1628Thr)
NM_006766.5(KAT6A):c.4884C>G (p.Ala1628=)
NM_006766.5(KAT6A):c.4890C>G (p.Cys1630Trp)
NM_006766.5(KAT6A):c.4898A>G (p.Lys1633Arg)
NM_006766.5(KAT6A):c.4904C>T (p.Pro1635Leu)
NM_006766.5(KAT6A):c.4909A>T (p.Ser1637Cys)
NM_006766.5(KAT6A):c.4915G>A (p.Val1639Met)
NM_006766.5(KAT6A):c.4916T>C (p.Val1639Ala)
NM_006766.5(KAT6A):c.4931C>T (p.Pro1644Leu)
NM_006766.5(KAT6A):c.4932C>T (p.Pro1644=)
NM_006766.5(KAT6A):c.4938C>T (p.Asn1646=)
NM_006766.5(KAT6A):c.4938_4940dup (p.Asn1646_Gln1647insHis)
NM_006766.5(KAT6A):c.4940AGC[5] (p.Gln1650dup) rs542184116
NM_006766.5(KAT6A):c.4949A>C (p.Gln1650Pro) rs2150855649
NM_006766.5(KAT6A):c.4951C>T (p.Pro1651Ser)
NM_006766.5(KAT6A):c.4953G>A (p.Pro1651=)
NM_006766.5(KAT6A):c.4953G>T (p.Pro1651=)
NM_006766.5(KAT6A):c.4953_4976del (p.Pro1652_Pro1659del) rs779701073
NM_006766.5(KAT6A):c.4953_5015del (p.Pro1655_Pro1675del)
NM_006766.5(KAT6A):c.4957C>T (p.Pro1653Ser)
NM_006766.5(KAT6A):c.4958C>T (p.Pro1653Leu)
NM_006766.5(KAT6A):c.4959A>C (p.Pro1653=)
NM_006766.5(KAT6A):c.4959A>G (p.Pro1653=)
NM_006766.5(KAT6A):c.4961C>T (p.Pro1654Leu)
NM_006766.5(KAT6A):c.4966C>T (p.Pro1656Ser)
NM_006766.5(KAT6A):c.4968A>T (p.Pro1656=)
NM_006766.5(KAT6A):c.4968_4982dup (p.Gln1657_Pro1661dup) rs750049486
NM_006766.5(KAT6A):c.4971_4994dup (p.Gln1665_Pro1666insGlnProGlnProProProProGln)
NM_006766.5(KAT6A):c.4973_4981dup (p.Gln1660_Pro1661insGlnProGln)
NM_006766.5(KAT6A):c.4977_4985dup (p.Gln1660_Pro1662dup) rs1587707288
NM_006766.5(KAT6A):c.4979A>T (p.Gln1660Leu)
NM_006766.5(KAT6A):c.4985C>A (p.Pro1662Gln)
NM_006766.5(KAT6A):c.4985C>T (p.Pro1662Leu)
NM_006766.5(KAT6A):c.4986G>A (p.Pro1662=)
NM_006766.5(KAT6A):c.4989G>A (p.Pro1663=)
NM_006766.5(KAT6A):c.498T>G (p.Leu166=)
NM_006766.5(KAT6A):c.4993CAACCA[3] (p.Pro1668_Ala1669insGlnPro)
NM_006766.5(KAT6A):c.4995A>G (p.Gln1665=)
NM_006766.5(KAT6A):c.4998A>G (p.Pro1666=)
NM_006766.5(KAT6A):c.4G>C (p.Val2Leu)
NM_006766.5(KAT6A):c.5009C>A (p.Pro1670Gln) rs765421683
NM_006766.5(KAT6A):c.5010A>G (p.Pro1670=)
NM_006766.5(KAT6A):c.5018C>T (p.Pro1673Leu)
NM_006766.5(KAT6A):c.5019A>T (p.Pro1673=)
NM_006766.5(KAT6A):c.5019ACC[3] (p.Pro1675dup) rs758188280
NM_006766.5(KAT6A):c.5020C>G (p.Pro1674Ala)
NM_006766.5(KAT6A):c.5022_5033del (p.1677QQPQ[1])
NM_006766.5(KAT6A):c.5023C>G (p.Pro1675Ala)
NM_006766.5(KAT6A):c.502C>G (p.Arg168Gly)
NM_006766.5(KAT6A):c.5037G>A (p.Pro1679=)
NM_006766.5(KAT6A):c.5039A>T (p.Gln1680Leu)
NM_006766.5(KAT6A):c.503G>A (p.Arg168Gln)
NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1]) rs548231613
NM_006766.5(KAT6A):c.5042AGC[1] (p.Gln1682del)
NM_006766.5(KAT6A):c.5049G>A (p.Pro1683=)
NM_006766.5(KAT6A):c.504G>C (p.Arg168=)
NM_006766.5(KAT6A):c.5061C>T (p.Pro1687=)
NM_006766.5(KAT6A):c.5064G>A (p.Gln1688=)
NM_006766.5(KAT6A):c.5067G>A (p.Gln1689=)
NM_006766.5(KAT6A):c.5067G>C (p.Gln1689His)
NM_006766.5(KAT6A):c.5073A>G (p.Pro1691=)
NM_006766.5(KAT6A):c.5075C>T (p.Pro1692Leu)
NM_006766.5(KAT6A):c.5078C>A (p.Pro1693Gln)
NM_006766.5(KAT6A):c.5078C>T (p.Pro1693Leu)
NM_006766.5(KAT6A):c.507C>T (p.Leu169=)
NM_006766.5(KAT6A):c.5084C>G (p.Pro1695Arg)
NM_006766.5(KAT6A):c.5097_5099dup (p.Pro1701_Leu1702insPro)
NM_006766.5(KAT6A):c.5101C>A (p.Pro1701Thr)
NM_006766.5(KAT6A):c.5102C>A (p.Pro1701Gln)
NM_006766.5(KAT6A):c.5102C>T (p.Pro1701Leu)
NM_006766.5(KAT6A):c.5103G>A (p.Pro1701=)
NM_006766.5(KAT6A):c.5111A>G (p.Gln1704Arg)
NM_006766.5(KAT6A):c.5112G>C (p.Gln1704His)
NM_006766.5(KAT6A):c.5123A>G (p.Asn1708Ser)
NM_006766.5(KAT6A):c.5126A>C (p.Asn1709Thr)
NM_006766.5(KAT6A):c.5128A>T (p.Ser1710Cys)
NM_006766.5(KAT6A):c.5132T>G (p.Phe1711Cys)
NM_006766.5(KAT6A):c.5135C>T (p.Thr1712Ile) rs2150855310
NM_006766.5(KAT6A):c.5136C>T (p.Thr1712=)
NM_006766.5(KAT6A):c.5139A>G (p.Pro1713=)
NM_006766.5(KAT6A):c.513T>C (p.Thr171=)
NM_006766.5(KAT6A):c.5140G>A (p.Ala1714Thr)
NM_006766.5(KAT6A):c.5146A>G (p.Met1716Val)
NM_006766.5(KAT6A):c.5161C>T (p.Pro1721Ser)
NM_006766.5(KAT6A):c.5170G>A (p.Gly1724Arg)
NM_006766.5(KAT6A):c.5175C>T (p.Ser1725=)
NM_006766.5(KAT6A):c.5180G>C (p.Gly1727Ala)
NM_006766.5(KAT6A):c.5183A>G (p.Asn1728Ser)
NM_006766.5(KAT6A):c.5185A>G (p.Ile1729Val)
NM_006766.5(KAT6A):c.518C>T (p.Ala173Val)
NM_006766.5(KAT6A):c.5191A>G (p.Ile1731Val)
NM_006766.5(KAT6A):c.5195A>G (p.Tyr1732Cys)
NM_006766.5(KAT6A):c.5206C>T (p.Pro1736Ser)
NM_006766.5(KAT6A):c.5208A>G (p.Pro1736=)
NM_006766.5(KAT6A):c.520A>G (p.Thr174Ala)
NM_006766.5(KAT6A):c.5210G>A (p.Gly1737Glu)
NM_006766.5(KAT6A):c.5211G>A (p.Gly1737=)
NM_006766.5(KAT6A):c.5222C>T (p.Ala1741Val)
NM_006766.5(KAT6A):c.5223C>A (p.Ala1741=)
NM_006766.5(KAT6A):c.5223C>T (p.Ala1741=)
NM_006766.5(KAT6A):c.5224G>A (p.Gly1742Ser)
NM_006766.5(KAT6A):c.5228G>C (p.Ser1743Thr)
NM_006766.5(KAT6A):c.5228G>T (p.Ser1743Ile)
NM_006766.5(KAT6A):c.5231A>G (p.Tyr1744Cys)
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.525C>T (p.Asn175=)
NM_006766.5(KAT6A):c.5268G>A (p.Leu1756=)
NM_006766.5(KAT6A):c.5270A>G (p.Gln1757Arg) rs1821630800
NM_006766.5(KAT6A):c.5271G>C (p.Gln1757His)
NM_006766.5(KAT6A):c.5273A>T (p.Gln1758Leu)
NM_006766.5(KAT6A):c.5282_5283insT (p.Thr1762fs)
NM_006766.5(KAT6A):c.5287A>T (p.Ile1763Phe)
NM_006766.5(KAT6A):c.5295C>T (p.Asp1765=)
NM_006766.5(KAT6A):c.5299_5310del (p.His1767_Pro1770del)
NM_006766.5(KAT6A):c.530A>G (p.Asp177Gly)
NM_006766.5(KAT6A):c.5311T>C (p.Tyr1771His)
NM_006766.5(KAT6A):c.5313T>C (p.Tyr1771=)
NM_006766.5(KAT6A):c.5322T>C (p.Ser1774=)
NM_006766.5(KAT6A):c.5323C>G (p.Pro1775Ala)
NM_006766.5(KAT6A):c.5330T>C (p.Val1777Ala)
NM_006766.5(KAT6A):c.5331G>T (p.Val1777=)
NM_006766.5(KAT6A):c.5356C>G (p.Leu1786Val)
NM_006766.5(KAT6A):c.5361C>T (p.Ser1787=)
NM_006766.5(KAT6A):c.5363A>G (p.Asn1788Ser)
NM_006766.5(KAT6A):c.5366C>G (p.Thr1789Arg) rs1488170324
NM_006766.5(KAT6A):c.5383G>A (p.Ala1795Thr)
NM_006766.5(KAT6A):c.5386C>G (p.Pro1796Ala)
NM_006766.5(KAT6A):c.5388A>G (p.Pro1796=)
NM_006766.5(KAT6A):c.5395C>G (p.Pro1799Ala)
NM_006766.5(KAT6A):c.5406G>A (p.Gly1802=)
NM_006766.5(KAT6A):c.5406G>T (p.Gly1802=)
NM_006766.5(KAT6A):c.5409T>C (p.Thr1803=)
NM_006766.5(KAT6A):c.540G>C (p.Glu180Asp)
NM_006766.5(KAT6A):c.5413C>A (p.Gln1805Lys)
NM_006766.5(KAT6A):c.5417C>T (p.Ala1806Val)
NM_006766.5(KAT6A):c.5425A>G (p.Thr1809Ala)
NM_006766.5(KAT6A):c.5430G>T (p.Met1810Ile)
NM_006766.5(KAT6A):c.5433G>A (p.Thr1811=)
NM_006766.5(KAT6A):c.5439C>T (p.Pro1813=)
NM_006766.5(KAT6A):c.5449G>A (p.Ala1817Thr)
NM_006766.5(KAT6A):c.5449G>T (p.Ala1817Ser)
NM_006766.5(KAT6A):c.5458A>G (p.Thr1820Ala)
NM_006766.5(KAT6A):c.5459C>A (p.Thr1820Asn)
NM_006766.5(KAT6A):c.545G>A (p.Cys182Tyr)
NM_006766.5(KAT6A):c.5461A>G (p.Met1821Val)
NM_006766.5(KAT6A):c.5465A>G (p.Asn1822Ser)
NM_006766.5(KAT6A):c.5467C>T (p.Leu1823Phe)
NM_006766.5(KAT6A):c.5474CTC[1] (p.Pro1826del)
NM_006766.5(KAT6A):c.5492A>G (p.Asn1831Ser)
NM_006766.5(KAT6A):c.5507A>C (p.Asn1836Thr)
NM_006766.5(KAT6A):c.5510T>C (p.Ile1837Thr)
NM_006766.5(KAT6A):c.5511T>G (p.Ile1837Met)
NM_006766.5(KAT6A):c.5525C>T (p.Thr1842Met)
NM_006766.5(KAT6A):c.5528A>G (p.Gln1843Arg)
NM_006766.5(KAT6A):c.5535G>T (p.Leu1845Phe)
NM_006766.5(KAT6A):c.553C>G (p.Leu185Val)
NM_006766.5(KAT6A):c.553C>T (p.Leu185Phe)
NM_006766.5(KAT6A):c.5545A>G (p.Met1849Val)
NM_006766.5(KAT6A):c.5546_5555del (p.Met1849fs) rs886041480
NM_006766.5(KAT6A):c.5548C>T (p.Pro1850Ser)
NM_006766.5(KAT6A):c.554T>G (p.Leu185Arg)
NM_006766.5(KAT6A):c.5554A>G (p.Lys1852Glu)
NM_006766.5(KAT6A):c.5566del (p.Ser1856fs) rs1587706119
NM_006766.5(KAT6A):c.5568C>T (p.Ser1856=)
NM_006766.5(KAT6A):c.5570T>C (p.Ile1857Thr)
NM_006766.5(KAT6A):c.5573G>A (p.Arg1858His)
NM_006766.5(KAT6A):c.5574C>T (p.Arg1858=)
NM_006766.5(KAT6A):c.5577C>G (p.Ser1859=)
NM_006766.5(KAT6A):c.557C>G (p.Ser186Cys)
NM_006766.5(KAT6A):c.5594C>T (p.Pro1865Leu) rs2150854866
NM_006766.5(KAT6A):c.5595C>T (p.Pro1865=)
NM_006766.5(KAT6A):c.5598T>C (p.Ser1866=)
NM_006766.5(KAT6A):c.5600C>T (p.Ala1867Val)
NM_006766.5(KAT6A):c.5601G>A (p.Ala1867=) rs140666969
NM_006766.5(KAT6A):c.560G>C (p.Cys187Ser)
NM_006766.5(KAT6A):c.5625T>C (p.Tyr1875=)
NM_006766.5(KAT6A):c.5628C>T (p.Gly1876=)
NM_006766.5(KAT6A):c.5629C>G (p.Arg1877Gly)
NM_006766.5(KAT6A):c.5629C>T (p.Arg1877Cys)
NM_006766.5(KAT6A):c.5637A>G (p.Pro1879=)
NM_006766.5(KAT6A):c.5639C>A (p.Ser1880Ter) rs201870299
NM_006766.5(KAT6A):c.5639C>T (p.Ser1880Leu)
NM_006766.5(KAT6A):c.5640G>A (p.Ser1880=)
NM_006766.5(KAT6A):c.5641G>T (p.Ala1881Ser)
NM_006766.5(KAT6A):c.5643A>G (p.Ala1881=) rs1821606466
NM_006766.5(KAT6A):c.5643A>T (p.Ala1881=)
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.5650A>G (p.Met1884Val)
NM_006766.5(KAT6A):c.5662C>G (p.Pro1888Ala)
NM_006766.5(KAT6A):c.5662C>T (p.Pro1888Ser)
NM_006766.5(KAT6A):c.5665C>T (p.Arg1889Cys)
NM_006766.5(KAT6A):c.5667C>T (p.Arg1889=)
NM_006766.5(KAT6A):c.5668G>A (p.Ala1890Thr) rs766320012
NM_006766.5(KAT6A):c.5668G>T (p.Ala1890Ser)
NM_006766.5(KAT6A):c.566C>T (p.Pro189Leu)
NM_006766.5(KAT6A):c.5677G>T (p.Val1893Phe)
NM_006766.5(KAT6A):c.5679T>C (p.Val1893=)
NM_006766.5(KAT6A):c.5684G>A (p.Arg1895His)
NM_006766.5(KAT6A):c.5693A>G (p.Asn1898Ser)
NM_006766.5(KAT6A):c.5694C>T (p.Asn1898=)
NM_006766.5(KAT6A):c.5695A>G (p.Met1899Val)
NM_006766.5(KAT6A):c.5696T>C (p.Met1899Thr)
NM_006766.5(KAT6A):c.5700G>A (p.Gly1900=)
NM_006766.5(KAT6A):c.5701G>C (p.Val1901Leu)
NM_006766.5(KAT6A):c.571G>T (p.Val191Leu) rs1057523324
NM_006766.5(KAT6A):c.5721C>G (p.Pro1907=)
NM_006766.5(KAT6A):c.5722G>A (p.Ala1908Thr) rs1359574944
NM_006766.5(KAT6A):c.5726A>G (p.Tyr1909Cys)
NM_006766.5(KAT6A):c.5731G>A (p.Val1911Ile)
NM_006766.5(KAT6A):c.5735A>G (p.Asn1912Ser)
NM_006766.5(KAT6A):c.5749A>G (p.Asn1917Asp)
NM_006766.5(KAT6A):c.5754C>T (p.Thr1918=)
NM_006766.5(KAT6A):c.5761G>A (p.Ala1921Thr)
NM_006766.5(KAT6A):c.5764A>G (p.Met1922Val)
NM_006766.5(KAT6A):c.5765T>C (p.Met1922Thr)
NM_006766.5(KAT6A):c.576C>T (p.Ser192=)
NM_006766.5(KAT6A):c.5777G>A (p.Arg1926Gln)
NM_006766.5(KAT6A):c.5787G>A (p.Gln1929=)
NM_006766.5(KAT6A):c.5788C>T (p.Pro1930Ser)
NM_006766.5(KAT6A):c.5791A>G (p.Met1931Val)
NM_006766.5(KAT6A):c.5795T>C (p.Met1932Thr)
NM_006766.5(KAT6A):c.5816A>G (p.Asn1939Ser)
NM_006766.5(KAT6A):c.5817C>A (p.Asn1939Lys) rs2150854586
NM_006766.5(KAT6A):c.5819C>T (p.Pro1940Leu)
NM_006766.5(KAT6A):c.5825A>T (p.Tyr1942Phe)
NM_006766.5(KAT6A):c.5827A>G (p.Met1943Val)
NM_006766.5(KAT6A):c.5838A>G (p.Thr1946=)
NM_006766.5(KAT6A):c.5843A>G (p.Gln1948Arg)
NM_006766.5(KAT6A):c.5848C>A (p.Pro1950Thr)
NM_006766.5(KAT6A):c.584C>T (p.Pro195Leu)
NM_006766.5(KAT6A):c.5851A>G (p.Met1951Val)
NM_006766.5(KAT6A):c.5857A>G (p.Met1953Val)
NM_006766.5(KAT6A):c.585A>C (p.Pro195=)
NM_006766.5(KAT6A):c.585A>G (p.Pro195=)
NM_006766.5(KAT6A):c.5877G>A (p.Gly1959=)
NM_006766.5(KAT6A):c.5878A>C (p.Ser1960Arg) rs1057523241
NM_006766.5(KAT6A):c.5879G>A (p.Ser1960Asn)
NM_006766.5(KAT6A):c.5884G>A (p.Ala1962Thr)
NM_006766.5(KAT6A):c.5902A>C (p.Met1968Leu)
NM_006766.5(KAT6A):c.5902A>G (p.Met1968Val)
NM_006766.5(KAT6A):c.5904G>A (p.Met1968Ile)
NM_006766.5(KAT6A):c.5905C>T (p.Gln1969Ter)
NM_006766.5(KAT6A):c.5910T>C (p.Pro1970=)
NM_006766.5(KAT6A):c.5914C>T (p.Pro1972Ser)
NM_006766.5(KAT6A):c.5926A>G (p.Met1976Val)
NM_006766.5(KAT6A):c.5928G>A (p.Met1976Ile)
NM_006766.5(KAT6A):c.5929A>G (p.Met1977Val)
NM_006766.5(KAT6A):c.5930T>C (p.Met1977Thr)
NM_006766.5(KAT6A):c.593A>C (p.Lys198Thr)
NM_006766.5(KAT6A):c.593A>G (p.Lys198Arg)
NM_006766.5(KAT6A):c.5940C>A (p.Gly1980=)
NM_006766.5(KAT6A):c.5943C>T (p.Pro1981=)
NM_006766.5(KAT6A):c.594G>T (p.Lys198Asn)
NM_006766.5(KAT6A):c.5955C>G (p.Ser1985Arg)
NM_006766.5(KAT6A):c.5959A>G (p.Met1987Val)
NM_006766.5(KAT6A):c.5961G>A (p.Met1987Ile)
NM_006766.5(KAT6A):c.5963A>G (p.Asn1988Ser) rs2150854436
NM_006766.5(KAT6A):c.5964C>T (p.Asn1988=)
NM_006766.5(KAT6A):c.5966C>G (p.Ala1989Gly) rs2150854430
NM_006766.5(KAT6A):c.5966C>T (p.Ala1989Val)
NM_006766.5(KAT6A):c.5968G>A (p.Ala1990Thr)
NM_006766.5(KAT6A):c.5972G>T (p.Gly1991Val)
NM_006766.5(KAT6A):c.5973C>T (p.Gly1991=)
NM_006766.5(KAT6A):c.5974G>A (p.Val1992Met)
NM_006766.5(KAT6A):c.5974G>C (p.Val1992Leu) rs1050612463
NM_006766.5(KAT6A):c.5978C>G (p.Pro1993Arg)
NM_006766.5(KAT6A):c.5979C>T (p.Pro1993=)
NM_006766.5(KAT6A):c.5981A>G (p.Lys1994Arg)
NM_006766.5(KAT6A):c.5984A>C (p.Gln1995Pro)
NM_006766.5(KAT6A):c.5988A>G (p.Ser1996=)
NM_006766.5(KAT6A):c.5993A>G (p.Asn1998Ser)
NM_006766.5(KAT6A):c.5995G>A (p.Gly1999Arg)
NM_006766.5(KAT6A):c.5997A>T (p.Gly1999=)
NM_006766.5(KAT6A):c.600+10G>A
NM_006766.5(KAT6A):c.600+12A>G
NM_006766.5(KAT6A):c.600+14A>G
NM_006766.5(KAT6A):c.600+17C>T
NM_006766.5(KAT6A):c.600+20C>T
NM_006766.5(KAT6A):c.600+3A>G
NM_006766.5(KAT6A):c.600+7A>G
NM_006766.5(KAT6A):c.6000T>G (p.Pro2000=)
NM_006766.5(KAT6A):c.6004A>G (p.Met2002Val)
NM_006766.5(KAT6A):c.6008G>T (p.Arg2003Ile)
NM_006766.5(KAT6A):c.601-3C>T rs1824684118
NM_006766.5(KAT6A):c.601-4A>G
NM_006766.5(KAT6A):c.6011G>C (p.Arg2004Thr)
NM_006766.5(KAT6A):c.6013T>A (p.Ter2005Arg)
NM_006766.5(KAT6A):c.602C>T (p.Pro201Leu)
NM_006766.5(KAT6A):c.616A>G (p.Ile206Val)
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.659G>T (p.Arg220Leu)
NM_006766.5(KAT6A):c.678A>G (p.Glu226=)
NM_006766.5(KAT6A):c.688T>C (p.Cys230Arg)
NM_006766.5(KAT6A):c.68A>G (p.Gln23Arg) rs2150932970
NM_006766.5(KAT6A):c.693C>T (p.Ala231=)
NM_006766.5(KAT6A):c.709+12C>T rs112340515
NM_006766.5(KAT6A):c.709+16C>T
NM_006766.5(KAT6A):c.709+6T>C
NM_006766.5(KAT6A):c.710-14C>G rs142223557
NM_006766.5(KAT6A):c.710-14C>T
NM_006766.5(KAT6A):c.710-17_710-16insGAA
NM_006766.5(KAT6A):c.710-18T>C
NM_006766.5(KAT6A):c.710-2_710-1insAAAC
NM_006766.5(KAT6A):c.710-6T>A
NM_006766.5(KAT6A):c.710-7G>A
NM_006766.5(KAT6A):c.710-8C>T
NM_006766.5(KAT6A):c.711C>T (p.Gly237=)
NM_006766.5(KAT6A):c.717A>G (p.Pro239=)
NM_006766.5(KAT6A):c.737C>A (p.Pro246His)
NM_006766.5(KAT6A):c.738T>C (p.Pro246=)
NM_006766.5(KAT6A):c.744A>G (p.Leu248=)
NM_006766.5(KAT6A):c.745A>G (p.Thr249Ala)
NM_006766.5(KAT6A):c.746C>T (p.Thr249Met)
NM_006766.5(KAT6A):c.747G>A (p.Thr249=)
NM_006766.5(KAT6A):c.749T>C (p.Val250Ala)
NM_006766.5(KAT6A):c.752G>A (p.Arg251Gln) rs1824373842
NM_006766.5(KAT6A):c.758A>G (p.Lys253Arg)
NM_006766.5(KAT6A):c.771G>A (p.Trp257Ter)
NM_006766.5(KAT6A):c.774G>A (p.Gln258=)
NM_006766.5(KAT6A):c.780C>T (p.Ile260=)
NM_006766.5(KAT6A):c.799T>C (p.Ser267Pro)
NM_006766.5(KAT6A):c.805C>T (p.Arg269Ter) rs1564039543
NM_006766.5(KAT6A):c.806G>A (p.Arg269Gln)
NM_006766.5(KAT6A):c.811C>G (p.Gln271Glu)
NM_006766.5(KAT6A):c.815G>A (p.Gly272Asp)
NM_006766.5(KAT6A):c.816C>T (p.Gly272=)
NM_006766.5(KAT6A):c.818A>C (p.Lys273Thr)
NM_006766.5(KAT6A):c.824C>T (p.Ala275Val) rs1220943324
NM_006766.5(KAT6A):c.825+15C>T
NM_006766.5(KAT6A):c.825+18C>G
NM_006766.5(KAT6A):c.825+18C>T
NM_006766.5(KAT6A):c.825+2T>C
NM_006766.5(KAT6A):c.825+53G>C rs148680744
NM_006766.5(KAT6A):c.825+6T>C
NM_006766.5(KAT6A):c.825+9C>G
NM_006766.5(KAT6A):c.825G>A (p.Ala275=)
NM_006766.5(KAT6A):c.826-14C>G
NM_006766.5(KAT6A):c.826-14_826-11del
NM_006766.5(KAT6A):c.826-15T>C
NM_006766.5(KAT6A):c.826-236_826-232del rs547040506
NM_006766.5(KAT6A):c.826-4A>G
NM_006766.5(KAT6A):c.826-58C>T rs11990460
NM_006766.5(KAT6A):c.826-5A>G
NM_006766.5(KAT6A):c.826-6T>C
NM_006766.5(KAT6A):c.826-8T>C
NM_006766.5(KAT6A):c.830A>G (p.Asn277Ser)
NM_006766.5(KAT6A):c.835C>G (p.Leu279Val)
NM_006766.5(KAT6A):c.837C>T (p.Leu279=)
NM_006766.5(KAT6A):c.84A>G (p.Ser28=)
NM_006766.5(KAT6A):c.856C>T (p.Arg286Ter) rs1564038539
NM_006766.5(KAT6A):c.871G>A (p.Glu291Lys)
NM_006766.5(KAT6A):c.879T>C (p.Cys293=)
NM_006766.5(KAT6A):c.87A>G (p.Glu29=)
NM_006766.5(KAT6A):c.884C>T (p.Pro295Leu)
NM_006766.5(KAT6A):c.885G>A (p.Pro295=)
NM_006766.5(KAT6A):c.893C>A (p.Thr298Asn)
NM_006766.5(KAT6A):c.896G>A (p.Arg299His)
NM_006766.5(KAT6A):c.896G>T (p.Arg299Leu)
NM_006766.5(KAT6A):c.903A>G (p.Pro301=)
NM_006766.5(KAT6A):c.907+10A>G
NM_006766.5(KAT6A):c.907+12T>C
NM_006766.5(KAT6A):c.907+13T>A
NM_006766.5(KAT6A):c.907+20A>G
NM_006766.5(KAT6A):c.907+9T>C
NM_006766.5(KAT6A):c.908-19G>A
NM_006766.5(KAT6A):c.908-5del
NM_006766.5(KAT6A):c.908-5dup
NM_006766.5(KAT6A):c.908G>A (p.Gly303Asp)
NM_006766.5(KAT6A):c.910A>G (p.Met304Val)
NM_006766.5(KAT6A):c.924A>T (p.Gln308His)
NM_006766.5(KAT6A):c.927A>G (p.Ile309Met)
NM_006766.5(KAT6A):c.928T>A (p.Cys310Ser)
NM_006766.5(KAT6A):c.931C>T (p.Arg311Ter) rs1064793721
NM_006766.5(KAT6A):c.932G>A (p.Arg311Gln)
NM_006766.5(KAT6A):c.933A>G (p.Arg311=)
NM_006766.5(KAT6A):c.939G>A (p.Arg313=)
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter) rs1554688879
NM_006766.5(KAT6A):c.950G>A (p.Arg317Gln)
NM_006766.5(KAT6A):c.955C>A (p.Leu319Ile)
NM_006766.5(KAT6A):c.958C>G (p.Leu320Val) rs1175748950
NM_006766.5(KAT6A):c.966G>A (p.Lys322=)
NM_006766.5(KAT6A):c.96A>G (p.Ile32Met) rs1802455492
NM_006766.5(KAT6A):c.971C>A (p.Ala324Glu)
NM_006766.5(KAT6A):c.972A>T (p.Ala324=)
NM_006766.5(KAT6A):c.974C>T (p.Ala325Val)
NM_006766.5(KAT6A):c.979A>T (p.Ile327Leu)
NM_006766.5(KAT6A):c.985C>T (p.Arg329Trp)
NM_006766.5(KAT6A):c.987G>A (p.Arg329=)
NM_006766.5(KAT6A):c.988C>T (p.Arg330Cys)
NM_006766.5(KAT6A):c.989G>A (p.Arg330His)
NM_006766.5(KAT6A):c.995C>G (p.Thr332Ser)
NM_006766.5(KAT6A):c.9A>G (p.Lys3=)

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