ClinVar Miner

List of variants in gene KAT6B studied for Genitopatellar syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1097
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HGVS dbSNP gnomAD frequency
NM_012330.4(KAT6B):c.4495G>A (p.Val1499Ile) rs3740321 0.03254
NM_012330.4(KAT6B):c.4278C>T (p.Ala1426=) rs3740322 0.03160
NM_012330.4(KAT6B):c.3649G>T (p.Ala1217Ser) rs57372986 0.00678
NM_012330.4(KAT6B):c.929-12A>G rs190502446 0.00570
NM_012330.4(KAT6B):c.4407G>A (p.Ser1469=) rs114126792 0.00389
NM_012330.4(KAT6B):c.375C>T (p.Ser125=) rs41314998 0.00269
NM_012330.4(KAT6B):c.4835G>A (p.Arg1612His) rs72803461 0.00257
NM_012330.4(KAT6B):c.1663G>A (p.Gly555Arg) rs146395020 0.00107
NM_012330.4(KAT6B):c.2231+9A>G rs201260397 0.00101
NM_012330.4(KAT6B):c.1468C>T (p.Pro490Ser) rs141930257 0.00045
NM_012330.4(KAT6B):c.5970C>T (p.Asn1990=) rs140359323 0.00044
NM_012330.4(KAT6B):c.2495A>T (p.Asn832Ile) rs746792857 0.00038
NM_012330.4(KAT6B):c.4239A>G (p.Glu1413=) rs140636550 0.00036
NM_012330.4(KAT6B):c.2374-10T>C rs376833457 0.00035
NM_012330.4(KAT6B):c.4141G>C (p.Asp1381His) rs376231865 0.00031
NM_012330.4(KAT6B):c.4633G>A (p.Val1545Ile) rs145158232 0.00031
NM_012330.4(KAT6B):c.3416G>A (p.Arg1139Lys) rs149295701 0.00030
NM_012330.4(KAT6B):c.4080A>G (p.Glu1360=) rs546432678 0.00030
NM_012330.4(KAT6B):c.6162C>T (p.His2054=) rs192237531 0.00030
NM_012330.4(KAT6B):c.4434C>T (p.Gly1478=) rs148364222 0.00029
NM_012330.4(KAT6B):c.4390G>A (p.Val1464Met) rs143733161 0.00027
NM_012330.4(KAT6B):c.2878C>T (p.Arg960Trp) rs147643220 0.00025
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.6048G>A (p.Thr2016=) rs116978399 0.00024
NM_012330.4(KAT6B):c.4611C>T (p.Ile1537=) rs371945178 0.00022
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.5679G>A (p.Pro1893=) rs370977553 0.00021
NM_012330.4(KAT6B):c.3685A>G (p.Ser1229Gly) rs182978198 0.00020
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.2676G>A (p.Lys892=) rs151160120 0.00017
NM_012330.4(KAT6B):c.2448G>A (p.Thr816=) rs372149429 0.00016
NM_012330.4(KAT6B):c.3028C>T (p.Arg1010Trp) rs142309185 0.00016
NM_012330.4(KAT6B):c.5922G>A (p.Ala1974=) rs780751688 0.00016
NM_012330.4(KAT6B):c.933G>C (p.Met311Ile) rs141914733 0.00016
NM_012330.4(KAT6B):c.1689G>A (p.Pro563=) rs139737811 0.00015
NM_012330.4(KAT6B):c.1994-20C>T rs373239366 0.00015
NM_012330.4(KAT6B):c.2612G>A (p.Arg871Gln) rs779336844 0.00015
NM_012330.4(KAT6B):c.307C>T (p.Arg103Cys) rs374549966 0.00015
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.2272A>G (p.Met758Val) rs766894762 0.00012
NM_012330.4(KAT6B):c.3652G>C (p.Asp1218His) rs375059527 0.00011
NM_012330.4(KAT6B):c.4510G>A (p.Glu1504Lys) rs200393557 0.00011
NM_012330.4(KAT6B):c.621+7G>A rs377304308 0.00011
NM_012330.4(KAT6B):c.1282A>C (p.Asn428His) rs368259149 0.00010
NM_012330.4(KAT6B):c.2042T>A (p.Val681Glu) rs376258409 0.00010
NM_012330.4(KAT6B):c.3258A>C (p.Glu1086Asp) rs754680177 0.00010
NM_012330.4(KAT6B):c.3337T>C (p.Leu1113=) rs751986009 0.00010
NM_012330.4(KAT6B):c.3410G>A (p.Arg1137His) rs143090869 0.00010
NM_012330.4(KAT6B):c.3729G>C (p.Lys1243Asn) rs550048327 0.00010
NM_012330.4(KAT6B):c.4036G>T (p.Asp1346Tyr) rs542036896 0.00010
NM_012330.4(KAT6B):c.699A>G (p.Glu233=) rs188787788 0.00010
NM_012330.4(KAT6B):c.3255A>G (p.Glu1085=) rs933289359 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.3409C>A (p.Arg1137Ser) rs373696238 0.00009
NM_012330.4(KAT6B):c.3852C>T (p.Asp1284=) rs376367047 0.00009
NM_012330.4(KAT6B):c.4737C>T (p.Asp1579=) rs576647301 0.00009
NM_012330.4(KAT6B):c.4760C>T (p.Thr1587Met) rs145636342 0.00009
NM_012330.4(KAT6B):c.5368G>A (p.Ala1790Thr) rs766117254 0.00009
NM_012330.4(KAT6B):c.5433G>A (p.Pro1811=) rs201084874 0.00009
NM_012330.4(KAT6B):c.4077G>A (p.Glu1359=) rs560274634 0.00008
NM_012330.4(KAT6B):c.147A>G (p.Glu49=) rs1041827351 0.00007
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.2807A>G (p.His936Arg) rs144976646 0.00007
NM_012330.4(KAT6B):c.4441C>G (p.Leu1481Val) rs567260713 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.4806C>T (p.Ser1602=) rs377200752 0.00007
NM_012330.4(KAT6B):c.4807G>A (p.Val1603Ile) rs142688976 0.00007
NM_012330.4(KAT6B):c.504C>T (p.Asp168=) rs576505982 0.00007
NM_012330.4(KAT6B):c.839G>A (p.Arg280Lys) rs148243411 0.00007
NM_012330.4(KAT6B):c.1485A>G (p.Pro495=) rs200878724 0.00006
NM_012330.4(KAT6B):c.1536G>A (p.Thr512=) rs769547419 0.00006
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.2095G>A (p.Ala699Thr) rs202037961 0.00006
NM_012330.4(KAT6B):c.3477C>G (p.Pro1159=) rs145574734 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.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.2062G>A (p.Val688Ile) rs550985531 0.00005
NM_012330.4(KAT6B):c.2611C>T (p.Arg871Trp) rs142131679 0.00005
NM_012330.4(KAT6B):c.282G>A (p.Gly94=) rs569038847 0.00005
NM_012330.4(KAT6B):c.3664+18A>G rs547896428 0.00005
NM_012330.4(KAT6B):c.3762C>T (p.Arg1254=) rs145119505 0.00005
NM_012330.4(KAT6B):c.3768A>G (p.Leu1256=) rs371467644 0.00005
NM_012330.4(KAT6B):c.3801C>T (p.Thr1267=) rs375206291 0.00005
NM_012330.4(KAT6B):c.4284C>T (p.Asp1428=) rs767258202 0.00005
NM_012330.4(KAT6B):c.4831G>A (p.Val1611Ile) rs146494314 0.00005
NM_012330.4(KAT6B):c.4878C>T (p.Tyr1626=) rs146568876 0.00005
NM_012330.4(KAT6B):c.5192G>C (p.Ser1731Thr) rs778770748 0.00005
NM_012330.4(KAT6B):c.519G>A (p.Arg173=) rs374557982 0.00005
NM_012330.4(KAT6B):c.5385C>T (p.Tyr1795=) rs767336647 0.00005
NM_012330.4(KAT6B):c.5434T>C (p.Ser1812Pro) rs200728982 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.2373+8C>T rs574141923 0.00004
NM_012330.4(KAT6B):c.2463C>T (p.Val821=) rs1470032014 0.00004
NM_012330.4(KAT6B):c.3106C>A (p.Pro1036Thr) rs764184204 0.00004
NM_012330.4(KAT6B):c.3543G>C (p.Glu1181Asp) rs149817329 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.4575A>G (p.Thr1525=) rs367789559 0.00004
NM_012330.4(KAT6B):c.4956C>T (p.Val1652=) rs768071253 0.00004
NM_012330.4(KAT6B):c.5364C>A (p.Ser1788Arg) rs376103273 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.730+7T>A rs571475726 0.00004
NM_012330.4(KAT6B):c.1216C>T (p.Arg406Trp) rs1362389122 0.00003
NM_012330.4(KAT6B):c.1439C>T (p.Ala480Val) rs749428929 0.00003
NM_012330.4(KAT6B):c.1503C>T (p.Ser501=) rs199846196 0.00003
NM_012330.4(KAT6B):c.1504G>A (p.Gly502Ser) rs745726033 0.00003
NM_012330.4(KAT6B):c.1533C>T (p.Ser511=) rs780910195 0.00003
NM_012330.4(KAT6B):c.1584G>A (p.Val528=) rs200122662 0.00003
NM_012330.4(KAT6B):c.1715G>A (p.Arg572His) rs752631205 0.00003
NM_012330.4(KAT6B):c.2153G>A (p.Arg718Gln) rs754128910 0.00003
NM_012330.4(KAT6B):c.2324A>T (p.His775Leu) rs752359931 0.00003
NM_012330.4(KAT6B):c.2373+9G>A rs200359469 0.00003
NM_012330.4(KAT6B):c.2490A>G (p.Thr830=) rs201465048 0.00003
NM_012330.4(KAT6B):c.2793G>A (p.Thr931=) rs140113295 0.00003
NM_012330.4(KAT6B):c.2925C>T (p.Ser975=) rs779222706 0.00003
NM_012330.4(KAT6B):c.3021+17T>C rs1217128690 0.00003
NM_012330.4(KAT6B):c.3029G>A (p.Arg1010Gln) rs377645098 0.00003
NM_012330.4(KAT6B):c.3216A>G (p.Glu1072=) rs776709807 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.3382G>A (p.Val1128Ile) rs760250655 0.00003
NM_012330.4(KAT6B):c.3465A>G (p.Val1155=) rs749374416 0.00003
NM_012330.4(KAT6B):c.3539T>G (p.Val1180Gly) rs1213787718 0.00003
NM_012330.4(KAT6B):c.361C>T (p.Pro121Ser) rs199812020 0.00003
NM_012330.4(KAT6B):c.362C>T (p.Pro121Leu) rs201828896 0.00003
NM_012330.4(KAT6B):c.3728A>G (p.Lys1243Arg) rs758355954 0.00003
NM_012330.4(KAT6B):c.3737A>G (p.Gln1246Arg) rs1362318886 0.00003
NM_012330.4(KAT6B):c.3741G>A (p.Val1247=) rs957783395 0.00003
NM_012330.4(KAT6B):c.3834A>G (p.Glu1278=) rs777272076 0.00003
NM_012330.4(KAT6B):c.3847C>G (p.Pro1283Ala) rs371747862 0.00003
NM_012330.4(KAT6B):c.3900C>G (p.Thr1300=) rs201742830 0.00003
NM_012330.4(KAT6B):c.3994C>T (p.Pro1332Ser) rs764565963 0.00003
NM_012330.4(KAT6B):c.4074G>A (p.Glu1358=) rs1037500252 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.4596A>G (p.Pro1532=) rs758083734 0.00003
NM_012330.4(KAT6B):c.4758C>G (p.Thr1586=) rs149654793 0.00003
NM_012330.4(KAT6B):c.4834C>T (p.Arg1612Cys) rs140992439 0.00003
NM_012330.4(KAT6B):c.4879G>A (p.Ala1627Thr) rs199792793 0.00003
NM_012330.4(KAT6B):c.5188G>A (p.Gly1730Arg) rs756953458 0.00003
NM_012330.4(KAT6B):c.5232G>A (p.Pro1744=) rs569870263 0.00003
NM_012330.4(KAT6B):c.5356G>A (p.Glu1786Lys) rs906740657 0.00003
NM_012330.4(KAT6B):c.5367C>T (p.Asn1789=) rs1411292601 0.00003
NM_012330.4(KAT6B):c.5547G>T (p.Leu1849Phe) rs927634610 0.00003
NM_012330.4(KAT6B):c.5601C>T (p.Ser1867=) rs138499019 0.00003
NM_012330.4(KAT6B):c.5676G>A (p.Pro1892=) rs756311715 0.00003
NM_012330.4(KAT6B):c.581C>T (p.Ser194Leu) rs760824486 0.00003
NM_012330.4(KAT6B):c.5826A>T (p.Gln1942His) rs2134253644 0.00003
NM_012330.4(KAT6B):c.5863C>G (p.Pro1955Ala) rs762788479 0.00003
NM_012330.4(KAT6B):c.5866G>A (p.Ala1956Thr) rs1007982536 0.00003
NM_012330.4(KAT6B):c.5879C>T (p.Thr1960Met) rs147168060 0.00003
NM_012330.4(KAT6B):c.6130G>A (p.Gly2044Ser) rs374969061 0.00003
NM_012330.4(KAT6B):c.6154G>A (p.Gly2052Arg) rs756847080 0.00003
NM_012330.4(KAT6B):c.6211A>G (p.Met2071Val) rs759978500 0.00003
NM_012330.4(KAT6B):c.730+19A>G rs773761026 0.00003
NM_012330.4(KAT6B):c.836G>A (p.Gly279Asp) rs370398832 0.00003
NM_012330.4(KAT6B):c.1188C>T (p.Ser396=) rs765667808 0.00002
NM_012330.4(KAT6B):c.1235A>G (p.Lys412Arg) rs756609904 0.00002
NM_012330.4(KAT6B):c.1491A>G (p.Pro497=) rs764515650 0.00002
NM_012330.4(KAT6B):c.1539C>T (p.Ala513=) rs774605212 0.00002
NM_012330.4(KAT6B):c.1708C>T (p.Arg570Cys) rs751283321 0.00002
NM_012330.4(KAT6B):c.1754C>T (p.Ala585Val) rs780418110 0.00002
NM_012330.4(KAT6B):c.1794T>C (p.Ile598=) rs376078007 0.00002
NM_012330.4(KAT6B):c.2008A>G (p.Ile670Val) rs145378526 0.00002
NM_012330.4(KAT6B):c.2248C>A (p.Leu750Met) rs368081386 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.2744A>G (p.Tyr915Cys) rs772829576 0.00002
NM_012330.4(KAT6B):c.281G>A (p.Gly94Glu) rs370028079 0.00002
NM_012330.4(KAT6B):c.2845G>A (p.Asp949Asn) rs903839861 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.3155G>C (p.Arg1052Pro) rs368055515 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.3505A>G (p.Met1169Val) rs1281390253 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.4668C>T (p.Asp1556=) rs769370576 0.00002
NM_012330.4(KAT6B):c.4689C>T (p.Ala1563=) rs766030818 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.5502C>T (p.Tyr1834=) rs756031303 0.00002
NM_012330.4(KAT6B):c.550G>A (p.Ala184Thr) rs375472679 0.00002
NM_012330.4(KAT6B):c.5602G>A (p.Val1868Ile) rs199806711 0.00002
NM_012330.4(KAT6B):c.5693G>A (p.Arg1898Gln) rs749834266 0.00002
NM_012330.4(KAT6B):c.5790G>A (p.Ala1930=) rs369127534 0.00002
NM_012330.4(KAT6B):c.5831A>G (p.Tyr1944Cys) rs143966521 0.00002
NM_012330.4(KAT6B):c.5880G>A (p.Thr1960=) rs200498444 0.00002
NM_012330.4(KAT6B):c.5984A>C (p.Tyr1995Ser) rs1465345668 0.00002
NM_012330.4(KAT6B):c.603A>G (p.Leu201=) rs913559908 0.00002
NM_012330.4(KAT6B):c.6167A>G (p.Tyr2056Cys) rs139014890 0.00002
NM_012330.4(KAT6B):c.847-18T>C rs760335256 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.1030C>A (p.Arg344=) rs1049569566 0.00001
NM_012330.4(KAT6B):c.104C>T (p.Ala35Val) rs772997103 0.00001
NM_012330.4(KAT6B):c.109A>G (p.Ser37Gly) rs770545156 0.00001
NM_012330.4(KAT6B):c.112A>G (p.Thr38Ala) rs774022852 0.00001
NM_012330.4(KAT6B):c.1159G>T (p.Gly387Cys) rs1209018258 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.1213A>C (p.Thr405Pro) rs755528779 0.00001
NM_012330.4(KAT6B):c.1217G>A (p.Arg406Gln) rs781347759 0.00001
NM_012330.4(KAT6B):c.121G>A (p.Gly41Arg) rs759479262 0.00001
NM_012330.4(KAT6B):c.1228A>G (p.Thr410Ala) rs1363245674 0.00001
NM_012330.4(KAT6B):c.1308T>C (p.Asp436=) rs1217987452 0.00001
NM_012330.4(KAT6B):c.1346G>A (p.Arg449His) rs768502700 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.1388G>A (p.Arg463His) rs768128984 0.00001
NM_012330.4(KAT6B):c.1404C>T (p.Val468=) rs1341160475 0.00001
NM_012330.4(KAT6B):c.1475C>T (p.Ser492Phe) rs759661084 0.00001
NM_012330.4(KAT6B):c.1495C>T (p.Pro499Ser) rs924443279 0.00001
NM_012330.4(KAT6B):c.1497C>T (p.Pro499=) rs756800603 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.160A>G (p.Ser54Gly) rs1248551392 0.00001
NM_012330.4(KAT6B):c.1626A>G (p.Ala542=) rs748080816 0.00001
NM_012330.4(KAT6B):c.1654A>G (p.Thr552Ala) rs373962168 0.00001
NM_012330.4(KAT6B):c.1662G>A (p.Gln554=) rs1315521603 0.00001
NM_012330.4(KAT6B):c.1667A>T (p.Gln556Leu) rs965354059 0.00001
NM_012330.4(KAT6B):c.1673G>A (p.Arg558His) rs768923495 0.00001
NM_012330.4(KAT6B):c.1685A>G (p.His562Arg) rs1019373559 0.00001
NM_012330.4(KAT6B):c.1686C>T (p.His562=) rs1356812636 0.00001
NM_012330.4(KAT6B):c.1697C>T (p.Ala566Val) rs144497246 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.1786C>T (p.Arg596Trp) rs773778673 0.00001
NM_012330.4(KAT6B):c.1788G>T (p.Arg596=) rs1179307644 0.00001
NM_012330.4(KAT6B):c.1815C>T (p.Ser605=) rs1457301708 0.00001
NM_012330.4(KAT6B):c.1839T>G (p.Ile613Met) rs2548956761 0.00001
NM_012330.4(KAT6B):c.1851T>G (p.Ile617Met) rs1842148699 0.00001
NM_012330.4(KAT6B):c.1865G>A (p.Arg622Gln) rs773318837 0.00001
NM_012330.4(KAT6B):c.1917G>A (p.Val639=) rs1184925299 0.00001
NM_012330.4(KAT6B):c.1932G>A (p.Gly644=) rs1356006219 0.00001
NM_012330.4(KAT6B):c.1935C>A (p.Thr645=) rs781265758 0.00001
NM_012330.4(KAT6B):c.1974T>A (p.Ile658=) rs756285825 0.00001
NM_012330.4(KAT6B):c.1989T>C (p.Asp663=) rs1842158899 0.00001
NM_012330.4(KAT6B):c.198A>G (p.Lys66=) rs766394284 0.00001
NM_012330.4(KAT6B):c.1996A>G (p.Thr666Ala) rs756126843 0.00001
NM_012330.4(KAT6B):c.2014A>G (p.Ile672Val) rs757770040 0.00001
NM_012330.4(KAT6B):c.2084T>C (p.Val695Ala) rs776307689 0.00001
NM_012330.4(KAT6B):c.2099A>G (p.Gln700Arg) rs371018598 0.00001
NM_012330.4(KAT6B):c.2101G>A (p.Glu701Lys) rs1274585455 0.00001
NM_012330.4(KAT6B):c.2115+10G>A rs752814442 0.00001
NM_012330.4(KAT6B):c.2115+13T>A rs375539342 0.00001
NM_012330.4(KAT6B):c.2116-5G>A rs773003470 0.00001
NM_012330.4(KAT6B):c.2116-9A>G rs747646395 0.00001
NM_012330.4(KAT6B):c.2134G>T (p.Gly712Trp) rs530449640 0.00001
NM_012330.4(KAT6B):c.2143G>C (p.Asp715His) rs1842357931 0.00001
NM_012330.4(KAT6B):c.222A>G (p.Pro74=) rs2132072488 0.00001
NM_012330.4(KAT6B):c.2238A>C (p.Pro746=) rs1317142041 0.00001
NM_012330.4(KAT6B):c.2270A>G (p.Tyr757Cys) rs758845436 0.00001
NM_012330.4(KAT6B):c.2348G>A (p.Arg783Gln) rs1405330923 0.00001
NM_012330.4(KAT6B):c.2373+7G>A rs555317263 0.00001
NM_012330.4(KAT6B):c.2374-3T>C rs918213648 0.00001
NM_012330.4(KAT6B):c.2390G>A (p.Ser797Asn) rs949515731 0.00001
NM_012330.4(KAT6B):c.2405A>G (p.Gln802Arg) rs778305732 0.00001
NM_012330.4(KAT6B):c.2501A>T (p.Glu834Val) rs768402080 0.00001
NM_012330.4(KAT6B):c.2568C>T (p.Ser856=) rs1476724433 0.00001
NM_012330.4(KAT6B):c.2629+9A>G rs745942441 0.00001
NM_012330.4(KAT6B):c.2696G>A (p.Arg899His) rs761702778 0.00001
NM_012330.4(KAT6B):c.2724C>T (p.Ser908=) rs769054123 0.00001
NM_012330.4(KAT6B):c.2725G>A (p.Val909Ile) rs777249348 0.00001
NM_012330.4(KAT6B):c.2726T>C (p.Val909Ala) rs1221996810 0.00001
NM_012330.4(KAT6B):c.2734G>A (p.Glu912Lys) rs375276786 0.00001
NM_012330.4(KAT6B):c.27T>C (p.Tyr9=) rs1230075335 0.00001
NM_012330.4(KAT6B):c.2862-10C>T rs1042546522 0.00001
NM_012330.4(KAT6B):c.2879G>A (p.Arg960Gln) rs753695521 0.00001
NM_012330.4(KAT6B):c.2883A>G (p.Glu961=) rs757171780 0.00001
NM_012330.4(KAT6B):c.2893T>C (p.Leu965=) rs766503557 0.00001
NM_012330.4(KAT6B):c.2901C>T (p.His967=) rs886534412 0.00001
NM_012330.4(KAT6B):c.2920T>C (p.Cys974Arg) rs376273379 0.00001
NM_012330.4(KAT6B):c.2926A>C (p.Arg976=) rs749648834 0.00001
NM_012330.4(KAT6B):c.2931C>T (p.Ala977=) rs200236204 0.00001
NM_012330.4(KAT6B):c.2933A>G (p.Asn978Ser) rs778411790 0.00001
NM_012330.4(KAT6B):c.2968A>G (p.Ile990Val) rs1845384425 0.00001
NM_012330.4(KAT6B):c.2991G>A (p.Val997=) rs1421489322 0.00001
NM_012330.4(KAT6B):c.2997A>G (p.Glu999=) rs974723472 0.00001
NM_012330.4(KAT6B):c.3005G>A (p.Arg1002Gln) rs201735610 0.00001
NM_012330.4(KAT6B):c.3052T>C (p.Trp1018Arg) rs1217910953 0.00001
NM_012330.4(KAT6B):c.3056A>G (p.Glu1019Gly) rs1238391914 0.00001
NM_012330.4(KAT6B):c.308G>T (p.Arg103Leu) rs773931583 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.3136T>C (p.Leu1046=) rs560182393 0.00001
NM_012330.4(KAT6B):c.3146C>T (p.Pro1049Leu) rs754487804 0.00001
NM_012330.4(KAT6B):c.3154C>T (p.Arg1052Trp) rs747968644 0.00001
NM_012330.4(KAT6B):c.3165A>C (p.Thr1055=) rs1009262971 0.00001
NM_012330.4(KAT6B):c.3173G>A (p.Arg1058Gln) rs749078569 0.00001
NM_012330.4(KAT6B):c.3201G>A (p.Glu1067=) rs764097613 0.00001
NM_012330.4(KAT6B):c.3217G>C (p.Glu1073Gln) rs761860621 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.3294A>G (p.Glu1098=) rs1442407573 0.00001
NM_012330.4(KAT6B):c.3310G>A (p.Glu1104Lys) rs1369563772 0.00001
NM_012330.4(KAT6B):c.3328C>T (p.Pro1110Ser) rs761917382 0.00001
NM_012330.4(KAT6B):c.3334A>G (p.Arg1112Gly) rs763583481 0.00001
NM_012330.4(KAT6B):c.3372+11G>A rs753960861 0.00001
NM_012330.4(KAT6B):c.338G>A (p.Arg113Lys) rs1371266454 0.00001
NM_012330.4(KAT6B):c.3400G>A (p.Gly1134Ser) rs1272819977 0.00001
NM_012330.4(KAT6B):c.3404G>A (p.Arg1135His) rs138617006 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.355G>C (p.Glu119Gln) rs377346332 0.00001
NM_012330.4(KAT6B):c.3632A>T (p.Asn1211Ile) rs1446113975 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.3665-20G>A rs1483845554 0.00001
NM_012330.4(KAT6B):c.3718G>A (p.Glu1240Lys) rs140989004 0.00001
NM_012330.4(KAT6B):c.3730T>C (p.Cys1244Arg) rs751941544 0.00001
NM_012330.4(KAT6B):c.3761G>A (p.Arg1254His) rs568525923 0.00001
NM_012330.4(KAT6B):c.385A>G (p.Ile129Val) rs778694892 0.00001
NM_012330.4(KAT6B):c.3943G>C (p.Gly1315Arg) rs756960480 0.00001
NM_012330.4(KAT6B):c.3972C>T (p.Asn1324=) rs573655531 0.00001
NM_012330.4(KAT6B):c.4004C>T (p.Pro1335Leu) rs757599670 0.00001
NM_012330.4(KAT6B):c.4046A>G (p.Lys1349Arg) rs377300582 0.00001
NM_012330.4(KAT6B):c.4144C>A (p.Pro1382Thr) rs746515922 0.00001
NM_012330.4(KAT6B):c.4150G>A (p.Gly1384Ser) rs754489276 0.00001
NM_012330.4(KAT6B):c.4170A>G (p.Lys1390=) rs748058655 0.00001
NM_012330.4(KAT6B):c.4191G>A (p.Thr1397=) rs777151582 0.00001
NM_012330.4(KAT6B):c.4225G>A (p.Glu1409Lys) rs370657796 0.00001
NM_012330.4(KAT6B):c.4242G>A (p.Glu1414=) rs749051216 0.00001
NM_012330.4(KAT6B):c.425C>T (p.Thr142Ile) rs1054836015 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.4397C>G (p.Pro1466Arg) rs368744240 0.00001
NM_012330.4(KAT6B):c.441C>G (p.Ala147=) rs746869008 0.00001
NM_012330.4(KAT6B):c.4423A>G (p.Met1475Val) rs774593261 0.00001
NM_012330.4(KAT6B):c.4435G>A (p.Val1479Ile) rs775255115 0.00001
NM_012330.4(KAT6B):c.4437C>T (p.Val1479=) rs555311731 0.00001
NM_012330.4(KAT6B):c.452G>A (p.Arg151Gln) rs761606204 0.00001
NM_012330.4(KAT6B):c.4534G>C (p.Ala1512Pro) rs772508131 0.00001
NM_012330.4(KAT6B):c.4570G>A (p.Asp1524Asn) rs545973592 0.00001
NM_012330.4(KAT6B):c.4573A>G (p.Thr1525Ala) rs920418680 0.00001
NM_012330.4(KAT6B):c.460C>G (p.Leu154Val) rs562996276 0.00001
NM_012330.4(KAT6B):c.4632C>T (p.Ala1544=) rs772255130 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.4669G>A (p.Asp1557Asn) rs772986982 0.00001
NM_012330.4(KAT6B):c.4690G>A (p.Glu1564Lys) rs1176532397 0.00001
NM_012330.4(KAT6B):c.4694C>T (p.Thr1565Ile) rs1212688824 0.00001
NM_012330.4(KAT6B):c.4729C>T (p.Arg1577Cys) rs754132525 0.00001
NM_012330.4(KAT6B):c.4730G>A (p.Arg1577His) rs757242396 0.00001
NM_012330.4(KAT6B):c.4762C>T (p.Leu1588Phe) rs1423474405 0.00001
NM_012330.4(KAT6B):c.4764C>T (p.Leu1588=) rs1289025205 0.00001
NM_012330.4(KAT6B):c.4812C>T (p.His1604=) rs1484952585 0.00001
NM_012330.4(KAT6B):c.4816C>T (p.His1606Tyr) rs765433545 0.00001
NM_012330.4(KAT6B):c.4830C>T (p.Ser1610=) rs562072459 0.00001
NM_012330.4(KAT6B):c.4887C>T (p.Ile1629=) rs775407900 0.00001
NM_012330.4(KAT6B):c.5040C>T (p.Tyr1680=) rs369027010 0.00001
NM_012330.4(KAT6B):c.5052C>T (p.Ser1684=) rs772127144 0.00001
NM_012330.4(KAT6B):c.5057A>G (p.Tyr1686Cys) rs1041940434 0.00001
NM_012330.4(KAT6B):c.5070G>A (p.Met1690Ile) rs746794208 0.00001
NM_012330.4(KAT6B):c.5091C>T (p.Asn1697=) rs200958499 0.00001
NM_012330.4(KAT6B):c.510G>A (p.Pro170=) rs750020725 0.00001
NM_012330.4(KAT6B):c.5112C>T (p.Cys1704=) rs767983250 0.00001
NM_012330.4(KAT6B):c.5138G>A (p.Ser1713Asn) rs1211985137 0.00001
NM_012330.4(KAT6B):c.5187C>T (p.Ser1729=) rs1018804506 0.00001
NM_012330.4(KAT6B):c.5208G>A (p.Gln1736=) rs1056327909 0.00001
NM_012330.4(KAT6B):c.5235C>T (p.Thr1745=) rs894650958 0.00001
NM_012330.4(KAT6B):c.5242G>A (p.Val1748Ile) rs774598396 0.00001
NM_012330.4(KAT6B):c.5257G>T (p.Gly1753Cys) rs1245630656 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.5293C>A (p.Gln1765Lys) rs764959222 0.00001
NM_012330.4(KAT6B):c.5330C>A (p.Pro1777Gln) rs769628283 0.00001
NM_012330.4(KAT6B):c.5333C>G (p.Pro1778Arg) rs746093193 0.00001
NM_012330.4(KAT6B):c.5335A>G (p.Met1779Val) rs772132735 0.00001
NM_012330.4(KAT6B):c.5371A>G (p.Asn1791Asp) rs113566014 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.5432C>T (p.Pro1811Leu) rs777234738 0.00001
NM_012330.4(KAT6B):c.5487T>C (p.Asp1829=) rs767046915 0.00001
NM_012330.4(KAT6B):c.5493A>G (p.Ser1831=) rs1225466190 0.00001
NM_012330.4(KAT6B):c.5506C>A (p.His1836Asn) rs764085512 0.00001
NM_012330.4(KAT6B):c.5507A>G (p.His1836Arg) rs189002123 0.00001
NM_012330.4(KAT6B):c.5511C>T (p.Ser1837=) rs757121198 0.00001
NM_012330.4(KAT6B):c.5559A>G (p.Leu1853=) rs1399445385 0.00001
NM_012330.4(KAT6B):c.5662C>T (p.Pro1888Ser) rs372648542 0.00001
NM_012330.4(KAT6B):c.5665A>G (p.Met1889Val) rs781631671 0.00001
NM_012330.4(KAT6B):c.569C>T (p.Ala190Val) rs374318351 0.00001
NM_012330.4(KAT6B):c.5706A>G (p.Ala1902=) rs1846235865 0.00001
NM_012330.4(KAT6B):c.577T>C (p.Ser193Pro) rs1028333030 0.00001
NM_012330.4(KAT6B):c.5784G>A (p.Lys1928=) rs762885368 0.00001
NM_012330.4(KAT6B):c.5805C>T (p.Ala1935=) rs958098239 0.00001
NM_012330.4(KAT6B):c.5809G>T (p.Ala1937Ser) rs772444140 0.00001
NM_012330.4(KAT6B):c.5870G>A (p.Arg1957Gln) rs766309420 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.5992T>C (p.Ser1998Pro) rs761909075 0.00001
NM_012330.4(KAT6B):c.6001A>G (p.Met2001Val) rs1022629615 0.00001
NM_012330.4(KAT6B):c.6014G>A (p.Gly2005Asp) rs141200092 0.00001
NM_012330.4(KAT6B):c.6018C>T (p.Tyr2006=) rs751893242 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.6149C>T (p.Ala2050Val) rs1165451072 0.00001
NM_012330.4(KAT6B):c.6163G>A (p.Gly2055Ser) rs201636977 0.00001
NM_012330.4(KAT6B):c.6172A>G (p.Asn2058Asp) rs149966353 0.00001
NM_012330.4(KAT6B):c.6186C>G (p.Ser2062=) rs544591486 0.00001
NM_012330.4(KAT6B):c.6196C>G (p.Leu2066Val) rs901914485 0.00001
NM_012330.4(KAT6B):c.6200A>G (p.Asn2067Ser) rs772686445 0.00001
NM_012330.4(KAT6B):c.621+6C>T rs754457692 0.00001
NM_012330.4(KAT6B):c.622-7G>A rs751195432 0.00001
NM_012330.4(KAT6B):c.626G>A (p.Arg209His) rs1286866874 0.00001
NM_012330.4(KAT6B):c.679C>T (p.Arg227Cys) rs749252195 0.00001
NM_012330.4(KAT6B):c.680G>A (p.Arg227His) rs1469497703 0.00001
NM_012330.4(KAT6B):c.717T>C (p.Asp239=) rs1416245734 0.00001
NM_012330.4(KAT6B):c.731-14T>C rs755190307 0.00001
NM_012330.4(KAT6B):c.735C>T (p.His245=) rs1229990214 0.00001
NM_012330.4(KAT6B):c.758C>T (p.Pro253Leu) rs377149439 0.00001
NM_012330.4(KAT6B):c.765A>G (p.Leu255=) rs1338699123 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
NM_012330.4(KAT6B):c.846+14C>T rs370768291 0.00001
NM_012330.4(KAT6B):c.978A>C (p.Leu326=) rs150637713 0.00001
NC_000010.10:g.(?_76737054)_(76790804_?)dup
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=) rs1479908870
NM_012330.4(KAT6B):c.1009C>T (p.Arg337Ter) rs1425905429
NM_012330.4(KAT6B):c.1017A>G (p.Ala339=) rs1841916964
NM_012330.4(KAT6B):c.1025T>A (p.Ile342Asn) rs182392778
NM_012330.4(KAT6B):c.1026T>C (p.Ile342=) rs759247786
NM_012330.4(KAT6B):c.1033C>A (p.Pro345Thr)
NM_012330.4(KAT6B):c.1035G>A (p.Pro345=) rs2548937627
NM_012330.4(KAT6B):c.1061+13C>A rs1841923079
NM_012330.4(KAT6B):c.1061+20A>C rs1841923232
NM_012330.4(KAT6B):c.1061+4G>A
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) rs1842087872
NM_012330.4(KAT6B):c.1087A>G (p.Met363Val) rs2548950882
NM_012330.4(KAT6B):c.1098C>T (p.Phe366=) rs2548950982
NM_012330.4(KAT6B):c.1107G>A (p.Arg369=) rs2548951003
NM_012330.4(KAT6B):c.1145C>A (p.Thr382Asn) rs774124384
NM_012330.4(KAT6B):c.1147A>G (p.Thr383Ala) rs759569291
NM_012330.4(KAT6B):c.1162C>T (p.His388Tyr) rs2133720225
NM_012330.4(KAT6B):c.1170A>T (p.Ala390=) rs1474177160
NM_012330.4(KAT6B):c.1181A>T (p.Asp394Val)
NM_012330.4(KAT6B):c.1184C>T (p.Ser395Leu) rs1157587933
NM_012330.4(KAT6B):c.1196T>C (p.Leu399Ser)
NM_012330.4(KAT6B):c.1210C>T (p.Pro404Ser) rs2548951794
NM_012330.4(KAT6B):c.1227C>T (p.Ala409=)
NM_012330.4(KAT6B):c.1238T>C (p.Ile413Thr) rs1842099343
NM_012330.4(KAT6B):c.1242C>T (p.Thr414=)
NM_012330.4(KAT6B):c.1251C>T (p.Ser417=) rs1842100809
NM_012330.4(KAT6B):c.1252A>G (p.Thr418Ala) rs2133721937
NM_012330.4(KAT6B):c.1256A>G (p.Tyr419Cys)
NM_012330.4(KAT6B):c.1278_1283del (p.Lys426_Val427del) rs760375622
NM_012330.4(KAT6B):c.1279G>A (p.Val427Ile)
NM_012330.4(KAT6B):c.127G>A (p.Asp43Asn)
NM_012330.4(KAT6B):c.1311C>G (p.Gly437=)
NM_012330.4(KAT6B):c.1328C>T (p.Thr443Ile)
NM_012330.4(KAT6B):c.1366A>C (p.Ile456Leu) rs763282624
NM_012330.4(KAT6B):c.1393A>G (p.Arg465Gly)
NM_012330.4(KAT6B):c.1402G>A (p.Val468Ile)
NM_012330.4(KAT6B):c.1416G>A (p.Gln472=) rs2548953454
NM_012330.4(KAT6B):c.1449_1451del (p.Thr484del) rs766029987
NM_012330.4(KAT6B):c.1494C>T (p.Thr498=) rs2548954090
NM_012330.4(KAT6B):c.1512C>T (p.Ser504=)
NM_012330.4(KAT6B):c.1513C>G (p.Pro505Ala) rs1842122441
NM_012330.4(KAT6B):c.1527G>C (p.Lys509Asn) rs1842123297
NM_012330.4(KAT6B):c.1535C>G (p.Thr512Arg)
NM_012330.4(KAT6B):c.1542_1543delinsCA (p.Ser515Thr) rs2133726080
NM_012330.4(KAT6B):c.1543T>A (p.Ser515Thr) rs772231278
NM_012330.4(KAT6B):c.1543TCT[1] (p.Ser516del) rs752989133
NM_012330.4(KAT6B):c.1549C>T (p.Pro517Ser) rs2548954697
NM_012330.4(KAT6B):c.1551C>T (p.Pro517=) rs2548954720
NM_012330.4(KAT6B):c.1557C>G (p.Pro519=) rs1004375663
NM_012330.4(KAT6B):c.1568C>G (p.Ser523Cys) rs762233541
NM_012330.4(KAT6B):c.1576T>A (p.Cys526Ser) rs2548954856
NM_012330.4(KAT6B):c.1646A>C (p.His549Pro) rs755919401
NM_012330.4(KAT6B):c.1646A>G (p.His549Arg) rs755919401
NM_012330.4(KAT6B):c.1684C>T (p.His562Tyr) rs1842136832
NM_012330.4(KAT6B):c.1695T>C (p.Tyr565=) rs1267373046
NM_012330.4(KAT6B):c.1726G>A (p.Glu576Lys)
NM_012330.4(KAT6B):c.1728A>G (p.Glu576=) rs1842141221
NM_012330.4(KAT6B):c.1732T>C (p.Ser578Pro) rs2133729503
NM_012330.4(KAT6B):c.1739C>G (p.Thr580Arg)
NM_012330.4(KAT6B):c.1739C>T (p.Thr580Met)
NM_012330.4(KAT6B):c.1756C>G (p.His586Asp) rs2548956212
NM_012330.4(KAT6B):c.1757A>C (p.His586Pro) rs1280436884
NM_012330.4(KAT6B):c.1766G>C (p.Gly589Ala)
NM_012330.4(KAT6B):c.1782A>G (p.Arg594=) rs376823181
NM_012330.4(KAT6B):c.1792A>C (p.Ile598Leu)
NM_012330.4(KAT6B):c.1800C>T (p.His600=) rs2548956470
NM_012330.4(KAT6B):c.1805C>A (p.Ser602Tyr) rs773974070
NM_012330.4(KAT6B):c.1805C>T (p.Ser602Phe) rs773974070
NM_012330.4(KAT6B):c.1808C>T (p.Ser603Phe) rs2548956536
NM_012330.4(KAT6B):c.1813A>C (p.Ser605Arg) rs2133730853
NM_012330.4(KAT6B):c.1827T>C (p.Ala609=)
NM_012330.4(KAT6B):c.1844A>G (p.Lys615Arg) rs2548956787
NM_012330.4(KAT6B):c.1849A>C (p.Ile617Leu) rs759212867
NM_012330.4(KAT6B):c.1849A>G (p.Ile617Val) rs759212867
NM_012330.4(KAT6B):c.1855C>G (p.His619Asp) rs2548956866
NM_012330.4(KAT6B):c.1864C>T (p.Arg622Ter) rs1383727273
NM_012330.4(KAT6B):c.1874T>C (p.Phe625Ser)
NM_012330.4(KAT6B):c.1874T>G (p.Phe625Cys) rs760605044
NM_012330.4(KAT6B):c.1876C>T (p.Leu626Phe) rs2548957127
NM_012330.4(KAT6B):c.1887C>T (p.His629=) rs886038588
NM_012330.4(KAT6B):c.1899C>T (p.Gly633=) rs2548957292
NM_012330.4(KAT6B):c.1901G>C (p.Arg634Thr) rs763927532
NM_012330.4(KAT6B):c.1906A>G (p.Lys636Glu) rs2548957345
NM_012330.4(KAT6B):c.1910A>T (p.Tyr637Phe)
NM_012330.4(KAT6B):c.1911T>C (p.Tyr637=) rs897983932
NM_012330.4(KAT6B):c.1914A>T (p.Lys638Asn) rs2548957398
NM_012330.4(KAT6B):c.1947G>T (p.Gly649=) rs2548957725
NM_012330.4(KAT6B):c.1957T>C (p.Leu653=) rs2133732795
NM_012330.4(KAT6B):c.1965C>T (p.Asp655=)
NM_012330.4(KAT6B):c.1983T>A (p.Asp661Glu)
NM_012330.4(KAT6B):c.1994-18G>A rs767618662
NM_012330.4(KAT6B):c.1994-8A>C rs2548964098
NM_012330.4(KAT6B):c.1998T>C (p.Thr666=)
NM_012330.4(KAT6B):c.2001AATAAA[1] (p.Lys669_Ile670del)
NM_012330.4(KAT6B):c.2048G>A (p.Gly683Glu) rs1484594353
NM_012330.4(KAT6B):c.2096C>T (p.Ala699Val) rs2133747800
NM_012330.4(KAT6B):c.2109T>G (p.Ser703=) rs2548964981
NM_012330.4(KAT6B):c.2111G>C (p.Trp704Ser)
NM_012330.4(KAT6B):c.2116-11C>G rs768427499
NM_012330.4(KAT6B):c.2124G>C (p.Glu708Asp) rs1842356298
NM_012330.4(KAT6B):c.2152C>T (p.Arg718Trp) rs1842359062
NM_012330.4(KAT6B):c.2168T>C (p.Ile723Thr) rs2548975803
NM_012330.4(KAT6B):c.2195C>G (p.Thr732Ser) rs2548975925
NM_012330.4(KAT6B):c.2211T>C (p.Pro737=)
NM_012330.4(KAT6B):c.2218C>A (p.Gln740Lys)
NM_012330.4(KAT6B):c.2219A>G (p.Gln740Arg)
NM_012330.4(KAT6B):c.2220G>A (p.Gln740=) rs2548976229
NM_012330.4(KAT6B):c.2231+13G>A rs1842364669
NM_012330.4(KAT6B):c.2232-16T>A rs2133796597
NM_012330.4(KAT6B):c.2232-6dup rs1326976101
NM_012330.4(KAT6B):c.2241G>C (p.Lys747Asn)
NM_012330.4(KAT6B):c.2245del (p.Tyr749fs)
NM_012330.4(KAT6B):c.2280T>C (p.Ser760=)
NM_012330.4(KAT6B):c.2282A>G (p.Lys761Arg) rs1842534871
NM_012330.4(KAT6B):c.228C>T (p.Asn76=) rs2548334014
NM_012330.4(KAT6B):c.2299C>T (p.His767Tyr) rs1589750251
NM_012330.4(KAT6B):c.2306A>G (p.Lys769Arg) rs1038304658
NM_012330.4(KAT6B):c.230del (p.Pro77fs) rs2548334026
NM_012330.4(KAT6B):c.2328T>A (p.Pro776=)
NM_012330.4(KAT6B):c.236G>A (p.Arg79His)
NM_012330.4(KAT6B):c.2373+23del
NM_012330.4(KAT6B):c.2373+6C>A rs192506542
NM_012330.4(KAT6B):c.2373+6C>T rs192506542
NM_012330.4(KAT6B):c.2373+9G>C
NM_012330.4(KAT6B):c.2374-11C>G rs756496905
NM_012330.4(KAT6B):c.2413T>C (p.Cys805Arg) rs2549007647
NM_012330.4(KAT6B):c.2421A>G (p.Leu807=)
NM_012330.4(KAT6B):c.2469A>T (p.Pro823=) rs1444901119
NM_012330.4(KAT6B):c.2496T>C (p.Asn832=)
NM_012330.4(KAT6B):c.2506G>A (p.Gly836Ser) rs376747397
NM_012330.4(KAT6B):c.2509T>C (p.Cys837Arg) rs2549008284
NM_012330.4(KAT6B):c.2514T>C (p.His838=)
NM_012330.4(KAT6B):c.2515C>T (p.Leu839=) rs2549008411
NM_012330.4(KAT6B):c.2535+10G>A rs2549008601
NM_012330.4(KAT6B):c.2535+16G>C rs1842739061
NM_012330.4(KAT6B):c.2536-13C>T
NM_012330.4(KAT6B):c.2555A>G (p.Lys852Arg) rs2549027881
NM_012330.4(KAT6B):c.2576T>C (p.Met859Thr) rs754778615
NM_012330.4(KAT6B):c.2615T>G (p.Phe872Cys) rs2549028404
NM_012330.4(KAT6B):c.2620A>T (p.Ile874Phe)
NM_012330.4(KAT6B):c.2630-11T>C rs2549160135
NM_012330.4(KAT6B):c.2652A>C (p.Glu884Asp)
NM_012330.4(KAT6B):c.2653G>A (p.Gly885Ser)
NM_012330.4(KAT6B):c.2655C>A (p.Gly885=) rs754877723
NM_012330.4(KAT6B):c.2666C>G (p.Ser889Cys) rs1158475738
NM_012330.4(KAT6B):c.2686G>A (p.Asp896Asn) rs779250787
NM_012330.4(KAT6B):c.2717G>A (p.Trp906Ter) rs2549160853
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) rs772829576
NM_012330.4(KAT6B):c.2750A>G (p.His917Arg) rs2549161122
NM_012330.4(KAT6B):c.2790G>A (p.Ala930=) rs765834987
NM_012330.4(KAT6B):c.2790G>T (p.Ala930=) rs765834987
NM_012330.4(KAT6B):c.279G>C (p.Lys93Asn) rs2548334297
NM_012330.4(KAT6B):c.2808T>G (p.His936Gln)
NM_012330.4(KAT6B):c.2822C>T (p.Thr941Ile) rs1416204019
NM_012330.4(KAT6B):c.2861+15C>G rs755149561
NM_012330.4(KAT6B):c.2861+20G>C rs781519333
NM_012330.4(KAT6B):c.2861+6T>A
NM_012330.4(KAT6B):c.2861+8C>G rs2549162187
NM_012330.4(KAT6B):c.2861G>A (p.Arg954Lys) rs2549162128
NM_012330.4(KAT6B):c.2862-11T>C rs760728315
NM_012330.4(KAT6B):c.2862-13_2862-11del rs768625046
NM_012330.4(KAT6B):c.2903T>C (p.Met968Thr) rs751844600
NM_012330.4(KAT6B):c.291A>G (p.Gly97=) rs748901348
NM_012330.4(KAT6B):c.292T>A (p.Ser98Thr) rs2548334463
NM_012330.4(KAT6B):c.293C>T (p.Ser98Leu) rs2548334480
NM_012330.4(KAT6B):c.2950A>T (p.Ser984Cys) rs2549165117
NM_012330.4(KAT6B):c.2957G>C (p.Arg986Thr)
NM_012330.4(KAT6B):c.2963C>A (p.Thr988Asn) rs1845383523
NM_012330.4(KAT6B):c.2992T>A (p.Ser998Thr) rs776774212
NM_012330.4(KAT6B):c.299A>G (p.Asn100Ser) rs2548334531
NM_012330.4(KAT6B):c.3004_3005insTTAGC (p.Arg1002fs) rs2134159675
NM_012330.4(KAT6B):c.3021+13T>G rs1310142141
NM_012330.4(KAT6B):c.3021+16A>G
NM_012330.4(KAT6B):c.3021+20T>A
NM_012330.4(KAT6B):c.3021+6G>A rs761666873
NM_012330.4(KAT6B):c.3022-1G>C rs1845433207
NM_012330.4(KAT6B):c.3069del (p.Glu1024fs) rs2549168678
NM_012330.4(KAT6B):c.3072A>G (p.Glu1024=) rs2549168693
NM_012330.4(KAT6B):c.3102A>G (p.Gln1034=) rs2549168844
NM_012330.4(KAT6B):c.310A>T (p.Asn104Tyr) rs1841861253
NM_012330.4(KAT6B):c.3123G>A (p.Ser1041=)
NM_012330.4(KAT6B):c.3125A>G (p.Lys1042Arg)
NM_012330.4(KAT6B):c.3128A>G (p.Asn1043Ser) rs2549168990
NM_012330.4(KAT6B):c.3152G>C (p.Ser1051Thr) rs2549169189
NM_012330.4(KAT6B):c.3157C>T (p.Pro1053Ser) rs1845446786
NM_012330.4(KAT6B):c.3169dup (p.Glu1057fs) rs2549169285
NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter) rs1554843815
NM_012330.4(KAT6B):c.3183G>C (p.Leu1061=) rs775641543
NM_012330.4(KAT6B):c.3187G>A (p.Glu1063Lys)
NM_012330.4(KAT6B):c.318T>C (p.Asp106=) rs2548334753
NM_012330.4(KAT6B):c.3192G>A (p.Leu1064=) rs1183588808
NM_012330.4(KAT6B):c.3194C>T (p.Ser1065Phe)
NM_012330.4(KAT6B):c.3196A>G (p.Lys1066Glu)
NM_012330.4(KAT6B):c.3210AGA[2] (p.Glu1076del) rs765976563
NM_012330.4(KAT6B):c.3210AGA[4] (p.Glu1076_Asp1077insGlu) rs765976563
NM_012330.4(KAT6B):c.3219GGA[3] (p.Glu1076del) rs776286375
NM_012330.4(KAT6B):c.3227A>T (p.Glu1076Val) rs2549169829
NM_012330.4(KAT6B):c.3228_3242del (p.Asp1077_Glu1081del) rs1845455560
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) rs569172957
NM_012330.4(KAT6B):c.3234GGA[2] (p.Glu1089del) rs752095426
NM_012330.4(KAT6B):c.3234_3245del (p.Glu1086_Glu1089del) rs2549169921
NM_012330.4(KAT6B):c.3235G>A (p.Glu1079Lys) rs2549169961
NM_012330.4(KAT6B):c.3237G>A (p.Glu1079=) rs1301619049
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=) rs11001248
NM_012330.4(KAT6B):c.3249GGA[1] (p.Glu1089del) rs555280405
NM_012330.4(KAT6B):c.3249_3257del (p.Glu1087_Glu1089del) rs780405690
NM_012330.4(KAT6B):c.3250G>A (p.Glu1084Lys)
NM_012330.4(KAT6B):c.3252G>A (p.Glu1084=) rs766869621
NM_012330.4(KAT6B):c.3252_3269del (p.Glu1084_Glu1089del) rs2549170089
NM_012330.4(KAT6B):c.3252_3290dup (p.Glu1102_Glu1103insAspGluGluGluGluGluGluGluGluGluGluGluGlu) rs1845459971
NM_012330.4(KAT6B):c.3255AGA[3] (p.Glu1089_Asp1090insGlu) rs1564626318
NM_012330.4(KAT6B):c.3256G>C (p.Glu1086Gln) rs751215527
NM_012330.4(KAT6B):c.3258A>T (p.Glu1086Asp) rs754680177
NM_012330.4(KAT6B):c.3258_3266del (p.Glu1087_Glu1089del) rs754801098
NM_012330.4(KAT6B):c.3261G>A (p.Glu1087=) rs2134168282
NM_012330.4(KAT6B):c.3261_3269del (p.Glu1087_Glu1089del) rs2549170337
NM_012330.4(KAT6B):c.3267_3293dup (p.Glu1098_Glu1099insAspGluGluGluGluGluGluGluGlu) rs756289189
NM_012330.4(KAT6B):c.3270T>A (p.Asp1090Glu) rs569909731
NM_012330.4(KAT6B):c.3270_3278del (p.Asp1090_Glu1092del) rs771834072
NM_012330.4(KAT6B):c.3270_3281del (p.Asp1090_Glu1093del)
NM_012330.4(KAT6B):c.3275A>G (p.Glu1092Gly) rs2549170525
NM_012330.4(KAT6B):c.3279G>A (p.Glu1093=) rs2549170567
NM_012330.4(KAT6B):c.3279G>T (p.Glu1093Asp) rs2549170567
NM_012330.4(KAT6B):c.3279GGAAGAAGA[1] (p.Glu1102_Glu1104del) rs746473801
NM_012330.4(KAT6B):c.3282A>G (p.Glu1094=) rs2549170624
NM_012330.4(KAT6B):c.3285A>G (p.Glu1095=)
NM_012330.4(KAT6B):c.3286G>A (p.Glu1096Lys) rs770674400
NM_012330.4(KAT6B):c.3288_3293del (p.Glu1103_Glu1104del)
NM_012330.4(KAT6B):c.3288_3299del (p.Glu1101_Glu1104del) rs1485273995
NM_012330.4(KAT6B):c.3289GAA[10] (p.Glu1103_Glu1104dup) rs71929101
NM_012330.4(KAT6B):c.3289GAA[12] (p.Glu1104_Asn1105insGluGluGluGlu) rs71929101
NM_012330.4(KAT6B):c.3289GAA[4] (p.Glu1101_Glu1104del) rs71929101
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=) rs79644703
NM_012330.4(KAT6B):c.3293_3294insGGATGAAGAGGAGGA (p.Glu1098_Glu1099insAspGluGluGluGlu) rs2549170799
NM_012330.4(KAT6B):c.3296A>G (p.Glu1099Gly) rs1845475217
NM_012330.4(KAT6B):c.3296_3297insGGAAGA (p.Glu1104_Asn1105insGluGlu) rs531782676
NM_012330.4(KAT6B):c.3297A>G (p.Glu1099=)
NM_012330.4(KAT6B):c.3300A>G (p.Glu1100=) rs1845476589
NM_012330.4(KAT6B):c.3303A>G (p.Glu1101=) rs768856595
NM_012330.4(KAT6B):c.3316A>G (p.Ile1106Val) rs2549171168
NM_012330.4(KAT6B):c.3317T>C (p.Ile1106Thr)
NM_012330.4(KAT6B):c.3329C>G (p.Pro1110Arg) rs1589825701
NM_012330.4(KAT6B):c.3330C>T (p.Pro1110=) rs2134169978
NM_012330.4(KAT6B):c.3331C>T (p.Pro1111Ser) rs765279291
NM_012330.4(KAT6B):c.3335G>A (p.Arg1112Lys) rs2549171375
NM_012330.4(KAT6B):c.3340A>G (p.Thr1114Ala)
NM_012330.4(KAT6B):c.3341C>A (p.Thr1114Lys) rs755451488
NM_012330.4(KAT6B):c.3341C>T (p.Thr1114Met) rs755451488
NM_012330.4(KAT6B):c.3351G>A (p.Gln1117=) rs755603844
NM_012330.4(KAT6B):c.3355G>C (p.Val1119Leu) rs1440381536
NM_012330.4(KAT6B):c.3360C>T (p.Ala1120=)
NM_012330.4(KAT6B):c.3366G>A (p.Lys1122=) rs1400519520
NM_012330.4(KAT6B):c.3372+7G>T rs2134170626
NM_012330.4(KAT6B):c.3373-13G>A rs918638679
NM_012330.4(KAT6B):c.3373-14G>A rs2549182848
NM_012330.4(KAT6B):c.3373-18G>A rs2549182841
NM_012330.4(KAT6B):c.3373-1G>A rs2549182881
NM_012330.4(KAT6B):c.3373-20A>G rs1589831231
NM_012330.4(KAT6B):c.3376C>A (p.Pro1126Thr) rs767796290
NM_012330.4(KAT6B):c.3381T>G (p.Phe1127Leu) rs370323472
NM_012330.4(KAT6B):c.3415A>G (p.Arg1139Gly) rs2549183140
NM_012330.4(KAT6B):c.3428del (p.Ser1143fs) rs1845712748
NM_012330.4(KAT6B):c.3455C>G (p.Thr1152Arg)
NM_012330.4(KAT6B):c.3455C>T (p.Thr1152Met) rs139898065
NM_012330.4(KAT6B):c.3456G>A (p.Thr1152=) rs769921454
NM_012330.4(KAT6B):c.3489A>G (p.Ser1163=) rs2134197611
NM_012330.4(KAT6B):c.3500G>A (p.Arg1167Lys) rs1845717740
NM_012330.4(KAT6B):c.3509C>T (p.Pro1170Leu) rs1845718784
NM_012330.4(KAT6B):c.3510A>G (p.Pro1170=) rs2549183594
NM_012330.4(KAT6B):c.3513G>A (p.Gln1171=)
NM_012330.4(KAT6B):c.3518A>G (p.Glu1173Gly) rs761285524
NM_012330.4(KAT6B):c.3534T>C (p.Ile1178=) rs2134198072
NM_012330.4(KAT6B):c.3562G>A (p.Val1188Ile) rs749543997
NM_012330.4(KAT6B):c.3581del (p.Gln1194fs) rs1564628365
NM_012330.4(KAT6B):c.3590del (p.Pro1197fs) rs2549184163
NM_012330.4(KAT6B):c.3594del (p.Lys1199fs) rs2549184173
NM_012330.4(KAT6B):c.3598A>G (p.Lys1200Glu)
NM_012330.4(KAT6B):c.3601A>G (p.Arg1201Gly) rs747308567
NM_012330.4(KAT6B):c.3623G>A (p.Gly1208Glu) rs2549184362
NM_012330.4(KAT6B):c.3636T>C (p.His1212=)
NM_012330.4(KAT6B):c.3659G>A (p.Cys1220Tyr) rs1380765718
NM_012330.4(KAT6B):c.3664+14T>A rs2549184762
NM_012330.4(KAT6B):c.3664+1G>A rs1057516033
NM_012330.4(KAT6B):c.3665-10C>T rs2549196551
NM_012330.4(KAT6B):c.3665-1G>C rs2134232474
NM_012330.4(KAT6B):c.3665-20del rs1564630324
NM_012330.4(KAT6B):c.366T>C (p.Asn122=)
NM_012330.4(KAT6B):c.3671T>A (p.Met1224Lys) rs367677006
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) rs2549196742
NM_012330.4(KAT6B):c.3694A>G (p.Lys1232Glu) rs762337174
NM_012330.4(KAT6B):c.3702C>T (p.Gly1234=) rs1356577410
NM_012330.4(KAT6B):c.3704G>A (p.Ser1235Asn) rs759522596
NM_012330.4(KAT6B):c.3712A>G (p.Asn1238Asp) rs2549196886
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>G (p.Cys1244Gly) rs751941544
NM_012330.4(KAT6B):c.3760C>G (p.Arg1254Gly)
NM_012330.4(KAT6B):c.3763G>A (p.Gly1255Ser) rs147574112
NM_012330.4(KAT6B):c.3763G>C (p.Gly1255Arg) rs147574112
NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs) rs199470470
NM_012330.4(KAT6B):c.376C>A (p.Leu126Met) rs1841867953
NM_012330.4(KAT6B):c.3770C>G (p.Ser1257Cys) rs1424209939
NM_012330.4(KAT6B):c.3785A>G (p.Asn1262Ser)
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.3822C>G (p.Tyr1274Ter) rs2549197648
NM_012330.4(KAT6B):c.3828G>T (p.Pro1276=) rs141935235
NM_012330.4(KAT6B):c.3837A>G (p.Thr1279=) rs766315089
NM_012330.4(KAT6B):c.3855G>T (p.Glu1285Asp) rs756421689
NM_012330.4(KAT6B):c.3856C>T (p.Gln1286Ter) rs2549197942
NM_012330.4(KAT6B):c.3857del (p.Gln1286fs) rs2134234642
NM_012330.4(KAT6B):c.3877A>G (p.Lys1293Glu) rs199470474
NM_012330.4(KAT6B):c.3877_3879del (p.Lys1293del)
NM_012330.4(KAT6B):c.387A>G (p.Ile129Met) rs2548335377
NM_012330.4(KAT6B):c.3892G>T (p.Gly1298Ter) rs199470475
NM_012330.4(KAT6B):c.3906del (p.Ser1303fs) rs2134234910
NM_012330.4(KAT6B):c.3907A>G (p.Ser1303Gly) rs1057520090
NM_012330.4(KAT6B):c.3918G>A (p.Arg1306=) rs2549198309
NM_012330.4(KAT6B):c.3923AGG[2] (p.Glu1310del) rs773216336
NM_012330.4(KAT6B):c.3942T>C (p.Thr1314=)
NM_012330.4(KAT6B):c.3944G>A (p.Gly1315Glu)
NM_012330.4(KAT6B):c.3952C>T (p.Leu1318=)
NM_012330.4(KAT6B):c.3954G>A (p.Leu1318=) rs776501920
NM_012330.4(KAT6B):c.395_397dup (p.Tyr132_Leu133insHis) rs2548335455
NM_012330.4(KAT6B):c.3962A>C (p.Gln1321Pro)
NM_012330.4(KAT6B):c.3962A>G (p.Gln1321Arg) rs138030591
NM_012330.4(KAT6B):c.3987_3988del (p.Ala1331fs) rs2134235713
NM_012330.4(KAT6B):c.3992C>G (p.Ala1331Gly) rs201891685
NM_012330.4(KAT6B):c.3995del (p.Pro1332fs) rs2134235789
NM_012330.4(KAT6B):c.3997G>A (p.Val1333Ile) rs997181148
NM_012330.4(KAT6B):c.3998dup (p.Ser1334fs) rs2549198858
NM_012330.4(KAT6B):c.4003C>T (p.Pro1335Ser)
NM_012330.4(KAT6B):c.4006A>G (p.Asn1336Asp) rs2134235938
NM_012330.4(KAT6B):c.4019G>T (p.Gly1340Val)
NM_012330.4(KAT6B):c.4033GAT[1] (p.Asp1346del) rs2549199096
NM_012330.4(KAT6B):c.4041C>G (p.Leu1347=) rs2549199174
NM_012330.4(KAT6B):c.4051G>C (p.Glu1351Gln) rs747945298
NM_012330.4(KAT6B):c.4053G>C (p.Glu1351Asp) rs1314906622
NM_012330.4(KAT6B):c.4056AGAGGA[1] (p.Glu1367_Glu1368del)
NM_012330.4(KAT6B):c.4062_4064del (p.Glu1368del) rs772530975
NM_012330.4(KAT6B):c.4065GGA[2] (p.Glu1366_Glu1368del) rs367634881
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) rs2549199356
NM_012330.4(KAT6B):c.4071G>A (p.Glu1357=) rs1346806408
NM_012330.4(KAT6B):c.4072G>T (p.Glu1358Ter) rs774508465
NM_012330.4(KAT6B):c.4076_4077insAGAGGA (p.Glu1368_Gly1369insGluGlu)
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.4084G>A (p.Glu1362Lys)
NM_012330.4(KAT6B):c.4086A>G (p.Glu1362=) rs1564631023
NM_012330.4(KAT6B):c.4099G>C (p.Glu1367Gln) rs2549199879
NM_012330.4(KAT6B):c.40C>A (p.Leu14Ile)
NM_012330.4(KAT6B):c.4101_4103del (p.Glu1368del) rs2134237417
NM_012330.4(KAT6B):c.4109A>C (p.Glu1370Ala)
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=) rs2549200041
NM_012330.4(KAT6B):c.4116A>G (p.Glu1372=)
NM_012330.4(KAT6B):c.411T>C (p.Ser137=)
NM_012330.4(KAT6B):c.4120GGA[2] (p.Gly1376del) rs1345473557
NM_012330.4(KAT6B):c.4148A>C (p.Asp1383Ala) rs1846099902
NM_012330.4(KAT6B):c.4155T>C (p.Ala1385=)
NM_012330.4(KAT6B):c.4171G>A (p.Glu1391Lys) rs1846101190
NM_012330.4(KAT6B):c.4173G>C (p.Glu1391Asp)
NM_012330.4(KAT6B):c.4177C>T (p.Pro1393Ser) rs1476008802
NM_012330.4(KAT6B):c.4188C>T (p.Ser1396=)
NM_012330.4(KAT6B):c.4190C>G (p.Thr1397Arg) rs201038511
NM_012330.4(KAT6B):c.4190C>T (p.Thr1397Met)
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs) rs199470477
NM_012330.4(KAT6B):c.4208C>T (p.Ala1403Val) rs1160037448
NM_012330.4(KAT6B):c.4211G>T (p.Arg1404Leu) rs563033366
NM_012330.4(KAT6B):c.4217A>G (p.Asp1406Gly) rs751307649
NM_012330.4(KAT6B):c.422G>A (p.Ser141Asn)
NM_012330.4(KAT6B):c.4230GGA[2] (p.Glu1414del) rs745314195
NM_012330.4(KAT6B):c.423C>G (p.Ser141Arg) rs779662050
NM_012330.4(KAT6B):c.424A>C (p.Thr142Pro)
NM_012330.4(KAT6B):c.4262A>G (p.Asn1421Ser) rs2549201152
NM_012330.4(KAT6B):c.4279G>T (p.Asp1427Tyr) rs533156310
NM_012330.4(KAT6B):c.427A>G (p.Thr143Ala) rs1415150379
NM_012330.4(KAT6B):c.4285G>A (p.Glu1429Lys) rs1846114839
NM_012330.4(KAT6B):c.428C>T (p.Thr143Ile) rs370236468
NM_012330.4(KAT6B):c.4297C>T (p.His1433Tyr) rs752143830
NM_012330.4(KAT6B):c.4298A>T (p.His1433Leu) rs2134239492
NM_012330.4(KAT6B):c.431A>C (p.Asn144Thr) rs2548335665
NM_012330.4(KAT6B):c.4357C>T (p.Leu1453=) rs542130688
NM_012330.4(KAT6B):c.4359G>A (p.Leu1453=)
NM_012330.4(KAT6B):c.4360_4368delinsAAAAACCAAAA (p.Glu1454fs) rs199470478
NM_012330.4(KAT6B):c.4366C>G (p.Gln1456Glu)
NM_012330.4(KAT6B):c.4367A>G (p.Gln1456Arg)
NM_012330.4(KAT6B):c.4372A>G (p.Thr1458Ala) rs2549201789
NM_012330.4(KAT6B):c.4376T>C (p.Phe1459Ser) rs1213932187
NM_012330.4(KAT6B):c.4377T>C (p.Phe1459=)
NM_012330.4(KAT6B):c.4392_4393delinsAA (p.Gln1465Lys) rs2134240240
NM_012330.4(KAT6B):c.4402C>T (p.His1468Tyr) rs2549201975
NM_012330.4(KAT6B):c.4414G>C (p.Glu1472Gln) rs771354799
NM_012330.4(KAT6B):c.4420T>G (p.Leu1474Val) rs1846124520
NM_012330.4(KAT6B):c.4438G>C (p.Asp1480His) rs868347104
NM_012330.4(KAT6B):c.4443G>A (p.Leu1481=)
NM_012330.4(KAT6B):c.4445C>T (p.Thr1482Ile)
NM_012330.4(KAT6B):c.4447G>C (p.Ala1483Pro) rs2549202331
NM_012330.4(KAT6B):c.4461_4470del (p.Ser1487fs) rs2134240789
NM_012330.4(KAT6B):c.4486C>A (p.Pro1496Thr)
NM_012330.4(KAT6B):c.4488T>G (p.Pro1496=) rs2134241045
NM_012330.4(KAT6B):c.4492G>T (p.Ala1498Ser) rs760653122
NM_012330.4(KAT6B):c.4495_4496inv (p.Val1499Thr)
NM_012330.4(KAT6B):c.4509C>T (p.Asp1503=) rs776954391
NM_012330.4(KAT6B):c.4514A>G (p.Glu1505Gly) rs2134241318
NM_012330.4(KAT6B):c.451C>A (p.Arg151=) rs1328912370
NM_012330.4(KAT6B):c.4526G>A (p.Gly1509Glu) rs2134241407
NM_012330.4(KAT6B):c.4526_4528del (p.Gly1509del) rs746334369
NM_012330.4(KAT6B):c.4528G>A (p.Glu1510Lys) rs1846134504
NM_012330.4(KAT6B):c.4528del (p.Glu1510fs) rs2467005062
NM_012330.4(KAT6B):c.4536A>T (p.Ala1512=) rs572347318
NM_012330.4(KAT6B):c.4538dup (p.Lys1514fs) rs1846135896
NM_012330.4(KAT6B):c.4549C>A (p.Gln1517Lys) rs2549203492
NM_012330.4(KAT6B):c.4555A>C (p.Asn1519His) rs2549203553
NM_012330.4(KAT6B):c.4563G>A (p.Lys1521=) rs1299268973
NM_012330.4(KAT6B):c.4566A>G (p.Glu1522=) rs1846137770
NM_012330.4(KAT6B):c.4569C>T (p.Val1523=) rs1390141952
NM_012330.4(KAT6B):c.457C>T (p.Arg153Ter) rs1564516087
NM_012330.4(KAT6B):c.4599_4601del (p.Thr1534del)
NM_012330.4(KAT6B):c.4602C>T (p.Thr1534=) rs766230039
NM_012330.4(KAT6B):c.4609A>G (p.Ile1537Val) rs1485842076
NM_012330.4(KAT6B):c.4623T>C (p.Thr1541=) rs779236437
NM_012330.4(KAT6B):c.4624G>C (p.Val1542Leu)
NM_012330.4(KAT6B):c.462G>A (p.Leu154=)
NM_012330.4(KAT6B):c.4632C>G (p.Ala1544=) rs772255130
NM_012330.4(KAT6B):c.4644G>A (p.Leu1548=)
NM_012330.4(KAT6B):c.4648C>G (p.Gln1550Glu) rs2549204459
NM_012330.4(KAT6B):c.4657A>T (p.Ser1553Cys) rs2549204542
NM_012330.4(KAT6B):c.4660G>A (p.Glu1554Lys) rs761295315
NM_012330.4(KAT6B):c.466G>A (p.Ala156Thr) rs1435731944
NM_012330.4(KAT6B):c.4670A>T (p.Asp1557Val) rs2549204660
NM_012330.4(KAT6B):c.4676T>C (p.Phe1559Ser)
NM_012330.4(KAT6B):c.467C>T (p.Ala156Val) rs2548335938
NM_012330.4(KAT6B):c.4689C>A (p.Ala1563=) rs766030818
NM_012330.4(KAT6B):c.4727C>A (p.Thr1576Asn) rs368252918
NM_012330.4(KAT6B):c.4727C>G (p.Thr1576Ser) rs368252918
NM_012330.4(KAT6B):c.4737C>G (p.Asp1579Glu)
NM_012330.4(KAT6B):c.4739A>G (p.Gln1580Arg) rs2549205395
NM_012330.4(KAT6B):c.474C>T (p.Arg158=) rs184609018
NM_012330.4(KAT6B):c.4750A>G (p.Ile1584Val) rs758921740
NM_012330.4(KAT6B):c.4755C>T (p.Ala1585=) rs1846154139
NM_012330.4(KAT6B):c.4760C>A (p.Thr1587Lys) rs145636342
NM_012330.4(KAT6B):c.476C>G (p.Ala159Gly) rs2548336058
NM_012330.4(KAT6B):c.4778A>G (p.Gln1593Arg) rs2549205800
NM_012330.4(KAT6B):c.477T>C (p.Ala159=)
NM_012330.4(KAT6B):c.4783G>A (p.Asp1595Asn) rs2549205865
NM_012330.4(KAT6B):c.4816del (p.His1606fs)
NM_012330.4(KAT6B):c.4828T>C (p.Ser1610Pro) rs2549206351
NM_012330.4(KAT6B):c.4829C>G (p.Ser1610Cys) rs2549206360
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) rs1273966358
NM_012330.4(KAT6B):c.4898A>C (p.Gln1633Pro) rs2549206886
NM_012330.4(KAT6B):c.48T>C (p.Ala16=) rs2548332947
NM_012330.4(KAT6B):c.4908C>T (p.Ile1636=) rs773357891
NM_012330.4(KAT6B):c.4921C>T (p.Leu1641=) rs2549207111
NM_012330.4(KAT6B):c.4936A>G (p.Thr1646Ala) rs2549207194
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) rs2549207663
NM_012330.4(KAT6B):c.5002A>G (p.Ser1668Gly) rs2549207711
NM_012330.4(KAT6B):c.5018T>A (p.Ile1673Asn)
NM_012330.4(KAT6B):c.5026A>T (p.Thr1676Ser)
NM_012330.4(KAT6B):c.5076C>T (p.Gly1692=) rs2549208268
NM_012330.4(KAT6B):c.5083T>A (p.Cys1695Ser) rs1408947850
NM_012330.4(KAT6B):c.5092G>A (p.Gly1698Ser)
NM_012330.4(KAT6B):c.5093G>A (p.Gly1698Asp) rs2549208435
NM_012330.4(KAT6B):c.5095T>G (p.Ser1699Ala) rs2549208473
NM_012330.4(KAT6B):c.509C>G (p.Pro170Arg) rs779373950
NM_012330.4(KAT6B):c.513G>A (p.Gln171=) rs1841877461
NM_012330.4(KAT6B):c.5140C>G (p.Leu1714Val)
NM_012330.4(KAT6B):c.5146_5147del (p.Gln1716fs) rs2549208798
NM_012330.4(KAT6B):c.5200_5241dup (p.Ser1747_Val1748insMetLeuGlnGlnThrSerIleSerSerProProThrCysSer) rs2549209081
NM_012330.4(KAT6B):c.5203C>G (p.Leu1735Val)
NM_012330.4(KAT6B):c.5203C>T (p.Leu1735=)
NM_012330.4(KAT6B):c.5214C>T (p.Thr1738=)
NM_012330.4(KAT6B):c.5222G>C (p.Ser1741Thr)
NM_012330.4(KAT6B):c.5228C>T (p.Pro1743Leu) rs2549209314
NM_012330.4(KAT6B):c.5241C>T (p.Ser1747=)
NM_012330.4(KAT6B):c.5251C>T (p.Pro1751Ser)
NM_012330.4(KAT6B):c.5254C>G (p.Gln1752Glu) rs924532501
NM_012330.4(KAT6B):c.5260T>G (p.Cys1754Gly) rs2134247487
NM_012330.4(KAT6B):c.5263G>A (p.Val1755Met) rs2549209644
NM_012330.4(KAT6B):c.527A>G (p.Tyr176Cys) rs2548336358
NM_012330.4(KAT6B):c.5280G>T (p.Pro1760=) rs530795452
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) rs1329717155
NM_012330.4(KAT6B):c.530G>A (p.Gly177Glu) rs2132075192
NM_012330.4(KAT6B):c.5311A>G (p.Met1771Val) rs1589846029
NM_012330.4(KAT6B):c.5317G>A (p.Ala1773Thr)
NM_012330.4(KAT6B):c.533G>T (p.Ser178Ile) rs2548336469
NM_012330.4(KAT6B):c.5357A>C (p.Glu1786Ala) rs1389265622
NM_012330.4(KAT6B):c.5374A>G (p.Ile1792Val)
NM_012330.4(KAT6B):c.5388G>A (p.Glu1796=)
NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter) rs199470484
NM_012330.4(KAT6B):c.5389_5394del (p.Arg1797_Met1798del)
NM_012330.4(KAT6B):c.5390G>A (p.Arg1797Gln)
NM_012330.4(KAT6B):c.5403T>G (p.Ser1801Arg)
NM_012330.4(KAT6B):c.5409del (p.Phe1803fs) rs2134249204
NM_012330.4(KAT6B):c.5423A>G (p.Tyr1808Cys) rs1589846469
NM_012330.4(KAT6B):c.5427G>A (p.Pro1809=) rs370396484
NM_012330.4(KAT6B):c.5427G>T (p.Pro1809=) rs370396484
NM_012330.4(KAT6B):c.544A>G (p.Lys182Glu)
NM_012330.4(KAT6B):c.5454C>G (p.Ala1818=) rs1027643241
NM_012330.4(KAT6B):c.5461C>T (p.Gln1821Ter) rs1314336566
NM_012330.4(KAT6B):c.5476A>G (p.Thr1826Ala) rs2549211762
NM_012330.4(KAT6B):c.54G>A (p.Gln18=) rs2548332984
NM_012330.4(KAT6B):c.5502del (p.Pro1833_Tyr1834insTer) rs1589846743
NM_012330.4(KAT6B):c.5528A>G (p.Tyr1843Cys)
NM_012330.4(KAT6B):c.552A>C (p.Ala184=) rs1279686368
NM_012330.4(KAT6B):c.5554C>T (p.Pro1852Ser) rs2549212518
NM_012330.4(KAT6B):c.5556A>G (p.Pro1852=)
NM_012330.4(KAT6B):c.5567C>T (p.Thr1856Ile)
NM_012330.4(KAT6B):c.5584T>C (p.Ser1862Pro) rs2549212718
NM_012330.4(KAT6B):c.5604C>T (p.Val1868=)
NM_012330.4(KAT6B):c.5609G>C (p.Gly1870Ala) rs2549212959
NM_012330.4(KAT6B):c.5634G>A (p.Met1878Ile) rs2549213290
NM_012330.4(KAT6B):c.5641C>T (p.Pro1881Ser) rs1846227833
NM_012330.4(KAT6B):c.5646C>A (p.Pro1882=) rs1846229052
NM_012330.4(KAT6B):c.5648A>G (p.Asn1883Ser)
NM_012330.4(KAT6B):c.5660C>T (p.Pro1887Leu)
NM_012330.4(KAT6B):c.5667G>A (p.Met1889Ile)
NM_012330.4(KAT6B):c.5698A>G (p.Met1900Val) rs779320993
NM_012330.4(KAT6B):c.5704G>A (p.Ala1902Thr) rs2549214087
NM_012330.4(KAT6B):c.570A>G (p.Ala190=) rs1841882538
NM_012330.4(KAT6B):c.5731C>T (p.Gln1911Ter) rs1564633281
NM_012330.4(KAT6B):c.5733A>G (p.Gln1911=) rs2549214480
NM_012330.4(KAT6B):c.573C>G (p.Phe191Leu) rs2548336910
NM_012330.4(KAT6B):c.5754C>T (p.Ala1918=) rs1846239890
NM_012330.4(KAT6B):c.5788G>A (p.Ala1930Thr) rs2549215061
NM_012330.4(KAT6B):c.5789C>T (p.Ala1930Val)
NM_012330.4(KAT6B):c.579C>A (p.Ser193=) rs2548336948
NM_012330.4(KAT6B):c.5806G>A (p.Ala1936Thr) rs372902605
NM_012330.4(KAT6B):c.5806G>C (p.Ala1936Pro) rs372902605
NM_012330.4(KAT6B):c.5806G>T (p.Ala1936Ser) rs372902605
NM_012330.4(KAT6B):c.5813C>T (p.Thr1938Ile) rs376112744
NM_012330.4(KAT6B):c.5818C>G (p.Gln1940Glu) rs1846246071
NM_012330.4(KAT6B):c.5827A>G (p.Ile1943Val)
NM_012330.4(KAT6B):c.5829C>G (p.Ile1943Met) rs2134253708
NM_012330.4(KAT6B):c.582G>A (p.Ser194=) rs764335792
NM_012330.4(KAT6B):c.5831del (p.Tyr1944fs) rs2549215567
NM_012330.4(KAT6B):c.5837G>A (p.Arg1946His)
NM_012330.4(KAT6B):c.5837G>T (p.Arg1946Leu)
NM_012330.4(KAT6B):c.5887A>G (p.Arg1963Gly)
NM_012330.4(KAT6B):c.5899A>G (p.Met1967Val) rs750955934
NM_012330.4(KAT6B):c.5918C>G (p.Pro1973Arg) rs2549216498
NM_012330.4(KAT6B):c.5920G>A (p.Ala1974Thr) rs2549216536
NM_012330.4(KAT6B):c.592G>C (p.Val198Leu) rs2548337064
NM_012330.4(KAT6B):c.5949C>T (p.Asn1983=) rs745470061
NM_012330.4(KAT6B):c.5950A>G (p.Met1984Val) rs866857179
NM_012330.4(KAT6B):c.5962A>G (p.Thr1988Ala) rs1846260900
NM_012330.4(KAT6B):c.5987G>A (p.Ser1996Asn) rs2549217233
NM_012330.4(KAT6B):c.6037A>G (p.Met2013Val) rs1846270592
NM_012330.4(KAT6B):c.6041A>G (p.Asn2014Ser) rs2549217744
NM_012330.4(KAT6B):c.6058C>G (p.Pro2020Ala) rs770958025
NM_012330.4(KAT6B):c.6061A>T (p.Met2021Leu) rs1477195408
NM_012330.4(KAT6B):c.6072G>A (p.Gln2024=)
NM_012330.4(KAT6B):c.6072G>T (p.Gln2024His) rs779040271
NM_012330.4(KAT6B):c.6076G>T (p.Gly2026Cys) rs2549217979
NM_012330.4(KAT6B):c.6079A>G (p.Met2027Val) rs1564633848
NM_012330.4(KAT6B):c.6086G>A (p.Gly2029Asp) rs771794910
NM_012330.4(KAT6B):c.6092A>G (p.Gln2031Arg)
NM_012330.4(KAT6B):c.6100G>T (p.Ala2034Ser)
NM_012330.4(KAT6B):c.6109C>A (p.Pro2037Thr) rs202007260
NM_012330.4(KAT6B):c.6112A>G (p.Met2038Val) rs1265658401
NM_012330.4(KAT6B):c.6138G>A (p.Met2046Ile)
NM_012330.4(KAT6B):c.6141G>A (p.Met2047Ile) rs1846281686
NM_012330.4(KAT6B):c.6152C>G (p.Pro2051Arg) rs2549218877
NM_012330.4(KAT6B):c.615A>G (p.Lys205=)
NM_012330.4(KAT6B):c.6171G>C (p.Met2057Ile)
NM_012330.4(KAT6B):c.6198C>T (p.Leu2066=) rs2549219391
NM_012330.4(KAT6B):c.621+17T>C rs781197272
NM_012330.4(KAT6B):c.622-10T>G
NM_012330.4(KAT6B):c.622-53842A>G rs2132837198
NM_012330.4(KAT6B):c.6221A>G (p.Ter2074Trp) rs2549219619
NM_012330.4(KAT6B):c.622C>T (p.Pro208Ser) rs2548879018
NM_012330.4(KAT6B):c.625C>G (p.Arg209Gly) rs572706456
NM_012330.4(KAT6B):c.628G>A (p.Ala210Thr) rs2548879077
NM_012330.4(KAT6B):c.643A>G (p.Ile215Val) rs2133519678
NM_012330.4(KAT6B):c.658T>C (p.Leu220=) rs899355890
NM_012330.4(KAT6B):c.66G>A (p.Lys22=) rs748479485
NM_012330.4(KAT6B):c.673T>G (p.Ser225Ala) rs2548879274
NM_012330.4(KAT6B):c.683A>G (p.Glu228Gly)
NM_012330.4(KAT6B):c.709_710delinsGT (p.Cys237Val) rs2548879534
NM_012330.4(KAT6B):c.728G>A (p.Ser243Asn) rs2548879660
NM_012330.4(KAT6B):c.730+15T>C rs2133520898
NM_012330.4(KAT6B):c.731-10A>T
NM_012330.4(KAT6B):c.731-11del rs772911843
NM_012330.4(KAT6B):c.731-4A>G rs1342415990
NM_012330.4(KAT6B):c.741C>T (p.Ser247=) rs748383369
NM_012330.4(KAT6B):c.763T>C (p.Leu255=)
NM_012330.4(KAT6B):c.768A>G (p.Thr256=) rs2548920549
NM_012330.4(KAT6B):c.774T>C (p.Asn258=) rs1200912620
NM_012330.4(KAT6B):c.779A>G (p.Lys260Arg) rs2548920623
NM_012330.4(KAT6B):c.781G>A (p.Ala261Thr) rs1841724879
NM_012330.4(KAT6B):c.788G>T (p.Arg263Met) rs2548920734
NM_012330.4(KAT6B):c.799A>G (p.Ile267Val) rs2548920796
NM_012330.4(KAT6B):c.801C>A (p.Ile267=) rs1459841520
NM_012330.4(KAT6B):c.804A>G (p.Glu268=)
NM_012330.4(KAT6B):c.813A>C (p.Thr271=)
NM_012330.4(KAT6B):c.817A>G (p.Ser273Gly) rs2548920958
NM_012330.4(KAT6B):c.840A>C (p.Arg280Ser) rs1554834891
NM_012330.4(KAT6B):c.846+10G>T rs760293261
NM_012330.4(KAT6B):c.846T>C (p.Ala282=) rs772494538
NM_012330.4(KAT6B):c.848A>G (p.Asp283Gly) rs2548924143
NM_012330.4(KAT6B):c.857T>C (p.Leu286Pro)
NM_012330.4(KAT6B):c.869C>G (p.Ser290Cys) rs2548924283
NM_012330.4(KAT6B):c.881G>A (p.Gly294Glu) rs2548924333
NM_012330.4(KAT6B):c.894A>G (p.Glu298=) rs2548924383
NM_012330.4(KAT6B):c.908C>T (p.Pro303Leu)
NM_012330.4(KAT6B):c.919A>T (p.Met307Leu)
NM_012330.4(KAT6B):c.928+1G>T rs1841749398
NM_012330.4(KAT6B):c.928+21_928+26del rs1841750741
NM_012330.4(KAT6B):c.928+6C>G rs1589727185
NM_012330.4(KAT6B):c.928+6C>T
NM_012330.4(KAT6B):c.928+7T>C
NM_012330.4(KAT6B):c.928G>T (p.Gly310Trp)
NM_012330.4(KAT6B):c.929-10A>G rs201402709
NM_012330.4(KAT6B):c.929-16A>G rs2548936430
NM_012330.4(KAT6B):c.929-18AT[6] rs2548936406
NM_012330.4(KAT6B):c.930G>T (p.Gly310=) rs996995485
NM_012330.4(KAT6B):c.931A>T (p.Met311Leu)
NM_012330.4(KAT6B):c.974A>G (p.Lys325Arg)
NM_012330.4(KAT6B):c.999A>G (p.Gln333=) rs2548936943

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