ClinVar Miner

List of variants in gene KAT6B studied for bone development disease

Included ClinVar conditions (618):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 933
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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
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=)
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)
NM_012330.4(KAT6B):c.2615T>G (p.Phe872Cys)
NM_012330.4(KAT6B):c.2630-11T>C
NM_012330.4(KAT6B):c.2655C>A (p.Gly885=)
NM_012330.4(KAT6B):c.2666C>G (p.Ser889Cys)
NM_012330.4(KAT6B):c.2676G>A (p.Lys892=)
NM_012330.4(KAT6B):c.2686G>A (p.Asp896Asn)
NM_012330.4(KAT6B):c.2696G>A (p.Arg899His)
NM_012330.4(KAT6B):c.2717G>A (p.Trp906Ter)
NM_012330.4(KAT6B):c.2724C>T (p.Ser908=)
NM_012330.4(KAT6B):c.2725G>A (p.Val909Ile)
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)
NM_012330.4(KAT6B):c.2845G>A (p.Asp949Asn)
NM_012330.4(KAT6B):c.2861+15C>G
NM_012330.4(KAT6B):c.2861+20G>C
NM_012330.4(KAT6B):c.2861+8C>G
NM_012330.4(KAT6B):c.2861G>A (p.Arg954Lys)
NM_012330.4(KAT6B):c.2862-10C>T
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)
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
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)
NM_012330.4(KAT6B):c.5095T>G (p.Ser1699Ala)
NM_012330.4(KAT6B):c.509C>G (p.Pro170Arg)
NM_012330.4(KAT6B):c.513G>A (p.Gln171=)
NM_012330.4(KAT6B):c.5146_5147del (p.Gln1716fs)
NM_012330.4(KAT6B):c.5187C>T (p.Ser1729=)
NM_012330.4(KAT6B):c.5200_5241dup (p.Ser1747_Val1748insMetLeuGlnGlnThrSerIleSerSerProProThrCysSer)
NM_012330.4(KAT6B):c.5208G>A (p.Gln1736=)
NM_012330.4(KAT6B):c.5228C>T (p.Pro1743Leu)
NM_012330.4(KAT6B):c.5235C>T (p.Thr1745=)
NM_012330.4(KAT6B):c.5242G>A (p.Val1748Ile)
NM_012330.4(KAT6B):c.5254C>G (p.Gln1752Glu)
NM_012330.4(KAT6B):c.5257G>T (p.Gly1753Cys)
NM_012330.4(KAT6B):c.5260T>G (p.Cys1754Gly) rs2134247487
NM_012330.4(KAT6B):c.5263G>A (p.Val1755Met)
NM_012330.4(KAT6B):c.527A>G (p.Tyr176Cys)
NM_012330.4(KAT6B):c.5280G>T (p.Pro1760=)
NM_012330.4(KAT6B):c.5290C>T (p.Gln1764Ter) rs1564632652
NM_012330.4(KAT6B):c.5298G>A (p.Leu1766=) rs2134247976
NM_012330.4(KAT6B):c.5304G>T (p.Gln1768His)
NM_012330.4(KAT6B):c.530G>A (p.Gly177Glu) rs2132075192
NM_012330.4(KAT6B):c.5330C>A (p.Pro1777Gln)
NM_012330.4(KAT6B):c.5333C>G (p.Pro1778Arg)
NM_012330.4(KAT6B):c.5335A>G (p.Met1779Val)
NM_012330.4(KAT6B):c.533G>T (p.Ser178Ile)
NM_012330.4(KAT6B):c.5356G>A (p.Glu1786Lys)
NM_012330.4(KAT6B):c.5357A>C (p.Glu1786Ala)
NM_012330.4(KAT6B):c.5367C>T (p.Asn1789=)
NM_012330.4(KAT6B):c.5371A>G (p.Asn1791Asp)
NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter) rs199470484
NM_012330.4(KAT6B):c.5409del (p.Phe1803fs) rs2134249204
NM_012330.4(KAT6B):c.5423A>G (p.Tyr1808Cys)
NM_012330.4(KAT6B):c.5427G>A (p.Pro1809=)
NM_012330.4(KAT6B):c.5427G>T (p.Pro1809=) rs370396484
NM_012330.4(KAT6B):c.5432C>T (p.Pro1811Leu)
NM_012330.4(KAT6B):c.5434T>C (p.Ser1812Pro)
NM_012330.4(KAT6B):c.5454C>G (p.Ala1818=) rs1027643241
NM_012330.4(KAT6B):c.5461C>T (p.Gln1821Ter)
NM_012330.4(KAT6B):c.5476A>G (p.Thr1826Ala)
NM_012330.4(KAT6B):c.5488C>T (p.His1830Tyr) rs752572188
NM_012330.4(KAT6B):c.5493A>G (p.Ser1831=)
NM_012330.4(KAT6B):c.54G>A (p.Gln18=)
NM_012330.4(KAT6B):c.5502del (p.Pro1833_Tyr1834insTer) rs1589846743
NM_012330.4(KAT6B):c.5506C>A (p.His1836Asn)
NM_012330.4(KAT6B):c.5507A>G (p.His1836Arg)
NM_012330.4(KAT6B):c.550G>A (p.Ala184Thr)
NM_012330.4(KAT6B):c.552A>C (p.Ala184=)
NM_012330.4(KAT6B):c.5547G>T (p.Leu1849Phe)
NM_012330.4(KAT6B):c.5554C>T (p.Pro1852Ser)
NM_012330.4(KAT6B):c.5559A>G (p.Leu1853=)
NM_012330.4(KAT6B):c.5584T>C (p.Ser1862Pro)
NM_012330.4(KAT6B):c.5602G>A (p.Val1868Ile)
NM_012330.4(KAT6B):c.5634G>A (p.Met1878Ile)
NM_012330.4(KAT6B):c.5641C>T (p.Pro1881Ser)
NM_012330.4(KAT6B):c.5646C>A (p.Pro1882=) rs1846229052
NM_012330.4(KAT6B):c.5665A>G (p.Met1889Val)
NM_012330.4(KAT6B):c.5676G>A (p.Pro1892=)
NM_012330.4(KAT6B):c.5693G>A (p.Arg1898Gln)
NM_012330.4(KAT6B):c.5698A>G (p.Met1900Val)
NM_012330.4(KAT6B):c.569C>T (p.Ala190Val)
NM_012330.4(KAT6B):c.5704G>A (p.Ala1902Thr)
NM_012330.4(KAT6B):c.5706A>G (p.Ala1902=)
NM_012330.4(KAT6B):c.570A>G (p.Ala190=)
NM_012330.4(KAT6B):c.5731C>T (p.Gln1911Ter) rs1564633281
NM_012330.4(KAT6B):c.5733A>G (p.Gln1911=)
NM_012330.4(KAT6B):c.573C>G (p.Phe191Leu)
NM_012330.4(KAT6B):c.5754C>T (p.Ala1918=)
NM_012330.4(KAT6B):c.577T>C (p.Ser193Pro)
NM_012330.4(KAT6B):c.5784G>A (p.Lys1928=)
NM_012330.4(KAT6B):c.5788G>A (p.Ala1930Thr)
NM_012330.4(KAT6B):c.579C>A (p.Ser193=)
NM_012330.4(KAT6B):c.5805C>T (p.Ala1935=)
NM_012330.4(KAT6B):c.5806G>A (p.Ala1936Thr)
NM_012330.4(KAT6B):c.5806G>C (p.Ala1936Pro)
NM_012330.4(KAT6B):c.5806G>T (p.Ala1936Ser)
NM_012330.4(KAT6B):c.5813C>T (p.Thr1938Ile) rs376112744
NM_012330.4(KAT6B):c.5818C>G (p.Gln1940Glu)
NM_012330.4(KAT6B):c.581C>T (p.Ser194Leu)
NM_012330.4(KAT6B):c.5826A>T (p.Gln1942His) rs2134253644
NM_012330.4(KAT6B):c.582G>A (p.Ser194=)
NM_012330.4(KAT6B):c.5831del (p.Tyr1944fs)
NM_012330.4(KAT6B):c.5866G>A (p.Ala1956Thr)
NM_012330.4(KAT6B):c.586C>G (p.Pro196Ala) rs2132075785
NM_012330.4(KAT6B):c.5870G>A (p.Arg1957Gln)
NM_012330.4(KAT6B):c.5880G>A (p.Thr1960=)
NM_012330.4(KAT6B):c.5899A>G (p.Met1967Val) rs750955934
NM_012330.4(KAT6B):c.5918C>G (p.Pro1973Arg)
NM_012330.4(KAT6B):c.5920G>A (p.Ala1974Thr)
NM_012330.4(KAT6B):c.592G>C (p.Val198Leu)
NM_012330.4(KAT6B):c.5949C>A (p.Asn1983Lys) rs745470061
NM_012330.4(KAT6B):c.5949C>T (p.Asn1983=)
NM_012330.4(KAT6B):c.5950A>G (p.Met1984Val)
NM_012330.4(KAT6B):c.5984A>C (p.Tyr1995Ser)
NM_012330.4(KAT6B):c.5987G>A (p.Ser1996Asn)
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)
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)
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
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=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.