ClinVar Miner

List of variants in gene KAT6B reported as uncertain significance for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 420
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HGVS dbSNP gnomAD frequency
NM_012330.4(KAT6B):c.3962A>T (p.Gln1321Leu) rs138030591 0.00021
NM_012330.4(KAT6B):c.1512C>A (p.Ser504Arg) rs769903041 0.00019
NM_012330.4(KAT6B):c.3028C>T (p.Arg1010Trp) rs142309185 0.00016
NM_012330.4(KAT6B):c.307C>T (p.Arg103Cys) rs374549966 0.00015
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.4510G>A (p.Glu1504Lys) rs200393557 0.00011
NM_012330.4(KAT6B):c.1282A>C (p.Asn428His) rs368259149 0.00010
NM_012330.4(KAT6B):c.3410G>A (p.Arg1137His) rs143090869 0.00010
NM_012330.4(KAT6B):c.5368G>A (p.Ala1790Thr) rs766117254 0.00010
NM_012330.4(KAT6B):c.3326C>T (p.Ser1109Phe) rs199963389 0.00009
NM_012330.4(KAT6B):c.1927A>T (p.Met643Leu) rs778899637 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.3559C>T (p.Pro1187Ser) rs370725802 0.00006
NM_012330.4(KAT6B):c.4118A>G (p.Glu1373Gly) rs373140884 0.00006
NM_012330.4(KAT6B):c.4807G>A (p.Val1603Ile) rs142688976 0.00006
NM_012330.4(KAT6B):c.6187A>C (p.Lys2063Gln) rs773473193 0.00006
NM_012330.4(KAT6B):c.5192G>C (p.Ser1731Thr) rs778770748 0.00005
NM_012330.4(KAT6B):c.1798C>T (p.His600Tyr) rs187153114 0.00004
NM_012330.4(KAT6B):c.2629+9A>G rs745942441 0.00004
NM_012330.4(KAT6B):c.4523C>A (p.Pro1508Gln) rs1014954135 0.00004
NM_012330.4(KAT6B):c.5879C>T (p.Thr1960Met) rs147168060 0.00004
NM_012330.4(KAT6B):c.1439C>T (p.Ala480Val) rs749428929 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.3847C>G (p.Pro1283Ala) rs371747862 0.00003
NM_012330.4(KAT6B):c.3994C>T (p.Pro1332Ser) rs764565963 0.00003
NM_012330.4(KAT6B):c.4879G>A (p.Ala1627Thr) rs199792793 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.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.1754C>T (p.Ala585Val) rs780418110 0.00002
NM_012330.4(KAT6B):c.281G>A (p.Gly94Glu) rs370028079 0.00002
NM_012330.4(KAT6B):c.3293A>G (p.Glu1098Gly) rs774138994 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.5360C>T (p.Thr1787Met) rs765731378 0.00002
NM_012330.4(KAT6B):c.86A>T (p.Glu29Val) rs1167009272 0.00002
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.1387C>T (p.Arg463Cys) rs1222902525 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.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.2116-9A>G rs747646395 0.00001
NM_012330.4(KAT6B):c.2143G>C (p.Asp715His) rs1842357931 0.00001
NM_012330.4(KAT6B):c.2734G>A (p.Glu912Lys) rs375276786 0.00001
NM_012330.4(KAT6B):c.2879G>A (p.Arg960Gln) rs753695521 0.00001
NM_012330.4(KAT6B):c.3523A>G (p.Thr1175Ala) rs1389778097 0.00001
NM_012330.4(KAT6B):c.362C>T (p.Pro121Leu) rs201828896 0.00001
NM_012330.4(KAT6B):c.3718G>A (p.Glu1240Lys) rs140989004 0.00001
NM_012330.4(KAT6B):c.385A>G (p.Ile129Val) rs778694892 0.00001
NM_012330.4(KAT6B):c.4046A>G (p.Lys1349Arg) rs377300582 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.452G>A (p.Arg151Gln) rs761606204 0.00001
NM_012330.4(KAT6B):c.4570G>A (p.Asp1524Asn) rs545973592 0.00001
NM_012330.4(KAT6B):c.5138G>A (p.Ser1713Asn) rs1211985137 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.5662C>T (p.Pro1888Ser) rs372648542 0.00001
NM_012330.4(KAT6B):c.5809G>T (p.Ala1937Ser) rs772444140 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.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.782C>T (p.Ala261Val) rs935089030 0.00001
NC_000010.10:g.(?_76780320)_(76790804_?)dup
NM_012330.4(KAT6B):c.1009C>T (p.Arg337Ter)
NM_012330.4(KAT6B):c.1025T>A (p.Ile342Asn) rs182392778
NM_012330.4(KAT6B):c.1070C>A (p.Thr357Asn) rs2133719323
NM_012330.4(KAT6B):c.1087A>G (p.Met363Val)
NM_012330.4(KAT6B):c.109A>G (p.Ser37Gly) rs770545156
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.1184C>T (p.Ser395Leu) rs1157587933
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.1252A>G (p.Thr418Ala) rs2133721937
NM_012330.4(KAT6B):c.1278_1283del (p.Lys426_Val427del) rs760375622
NM_012330.4(KAT6B):c.1366A>C (p.Ile456Leu) rs763282624
NM_012330.4(KAT6B):c.1449_1451del (p.Thr484del)
NM_012330.4(KAT6B):c.1475C>T (p.Ser492Phe)
NM_012330.4(KAT6B):c.1495C>T (p.Pro499Ser)
NM_012330.4(KAT6B):c.1513C>G (p.Pro505Ala) rs1842122441
NM_012330.4(KAT6B):c.1527G>C (p.Lys509Asn)
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.1576T>A (p.Cys526Ser)
NM_012330.4(KAT6B):c.160A>G (p.Ser54Gly)
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.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.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.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.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.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.1901G>C (p.Arg634Thr)
NM_012330.4(KAT6B):c.1906A>G (p.Lys636Glu)
NM_012330.4(KAT6B):c.1914A>T (p.Lys638Asn)
NM_012330.4(KAT6B):c.1947G>T (p.Gly649=)
NM_012330.4(KAT6B):c.1996A>G (p.Thr666Ala)
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.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.2282A>G (p.Lys761Arg)
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.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.2506G>A (p.Gly836Ser)
NM_012330.4(KAT6B):c.2509T>C (p.Cys837Arg)
NM_012330.4(KAT6B):c.2555A>G (p.Lys852Arg)
NM_012330.4(KAT6B):c.2576T>C (p.Met859Thr)
NM_012330.4(KAT6B):c.2611C>T (p.Arg871Trp)
NM_012330.4(KAT6B):c.2615T>G (p.Phe872Cys)
NM_012330.4(KAT6B):c.2666C>G (p.Ser889Cys)
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.2726T>C (p.Val909Ala)
NM_012330.4(KAT6B):c.2742_2743del (p.Tyr915fs) rs2134154014
NM_012330.4(KAT6B):c.2744A>C (p.Tyr915Ser)
NM_012330.4(KAT6B):c.279G>C (p.Lys93Asn)
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.2861G>A (p.Arg954Lys)
NM_012330.4(KAT6B):c.2903T>C (p.Met968Thr)
NM_012330.4(KAT6B):c.2920T>C (p.Cys974Arg)
NM_012330.4(KAT6B):c.292T>A (p.Ser98Thr)
NM_012330.4(KAT6B):c.2933A>G (p.Asn978Ser)
NM_012330.4(KAT6B):c.293C>T (p.Ser98Leu)
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.3021+6G>A
NM_012330.4(KAT6B):c.3052T>C (p.Trp1018Arg)
NM_012330.4(KAT6B):c.3056A>G (p.Glu1019Gly)
NM_012330.4(KAT6B):c.308G>T (p.Arg103Leu)
NM_012330.4(KAT6B):c.310A>T (p.Asn104Tyr) rs1841861253
NM_012330.4(KAT6B):c.3128A>G (p.Asn1043Ser)
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.3173G>A (p.Arg1058Gln)
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.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.3235G>A (p.Glu1079Lys)
NM_012330.4(KAT6B):c.3249_3257del (p.Glu1087_Glu1089del)
NM_012330.4(KAT6B):c.3252_3269del (p.Glu1084_Glu1089del)
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.3267_3293dup (p.Glu1098_Glu1099insAspGluGluGluGluGluGluGluGlu)
NM_012330.4(KAT6B):c.3270T>A (p.Asp1090Glu)
NM_012330.4(KAT6B):c.3275A>G (p.Glu1092Gly)
NM_012330.4(KAT6B):c.3279G>T (p.Glu1093Asp)
NM_012330.4(KAT6B):c.3286G>A (p.Glu1096Lys)
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.3293_3294insGGATGAAGAGGAGGA (p.Glu1098_Glu1099insAspGluGluGluGlu)
NM_012330.4(KAT6B):c.3296A>G (p.Glu1099Gly)
NM_012330.4(KAT6B):c.3296_3297insGGAAGA (p.Glu1104_Asn1105insGluGlu)
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.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.3355G>C (p.Val1119Leu)
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.3415A>G (p.Arg1139Gly)
NM_012330.4(KAT6B):c.3455C>T (p.Thr1152Met)
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.3518A>G (p.Glu1173Gly)
NM_012330.4(KAT6B):c.3543G>C (p.Glu1181Asp)
NM_012330.4(KAT6B):c.3562G>A (p.Val1188Ile)
NM_012330.4(KAT6B):c.3601A>G (p.Arg1201Gly)
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.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.3694A>G (p.Lys1232Glu) rs762337174
NM_012330.4(KAT6B):c.3704G>A (p.Ser1235Asn)
NM_012330.4(KAT6B):c.3712A>G (p.Asn1238Asp)
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.376C>A (p.Leu126Met)
NM_012330.4(KAT6B):c.3770C>G (p.Ser1257Cys) rs1424209939
NM_012330.4(KAT6B):c.3855G>T (p.Glu1285Asp)
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.3943G>C (p.Gly1315Arg)
NM_012330.4(KAT6B):c.395_397dup (p.Tyr132_Leu133insHis)
NM_012330.4(KAT6B):c.3962A>G (p.Gln1321Arg)
NM_012330.4(KAT6B):c.3997G>A (p.Val1333Ile)
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.4051G>C (p.Glu1351Gln)
NM_012330.4(KAT6B):c.4053G>C (p.Glu1351Asp) rs1314906622
NM_012330.4(KAT6B):c.4065GGA[4] (p.Glu1368del) rs367634881
NM_012330.4(KAT6B):c.4068_4085dup (p.Glu1368_Gly1369insGluGluGluGluGluGlu)
NM_012330.4(KAT6B):c.4079AAGAGGAAG[5] (p.Glu1363_Glu1368dup) rs375513122
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.4171G>A (p.Glu1391Lys)
NM_012330.4(KAT6B):c.4177C>T (p.Pro1393Ser)
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.425C>T (p.Thr142Ile) rs1054836015
NM_012330.4(KAT6B):c.427A>G (p.Thr143Ala)
NM_012330.4(KAT6B):c.428C>T (p.Thr143Ile)
NM_012330.4(KAT6B):c.4297C>T (p.His1433Tyr)
NM_012330.4(KAT6B):c.431A>C (p.Asn144Thr)
NM_012330.4(KAT6B):c.4372A>G (p.Thr1458Ala)
NM_012330.4(KAT6B):c.4402C>T (p.His1468Tyr)
NM_012330.4(KAT6B):c.4414G>C (p.Glu1472Gln)
NM_012330.4(KAT6B):c.4420T>G (p.Leu1474Val) rs1846124520
NM_012330.4(KAT6B):c.4438G>C (p.Asp1480His)
NM_012330.4(KAT6B):c.4492G>T (p.Ala1498Ser)
NM_012330.4(KAT6B):c.4495_4496inv (p.Val1499Thr)
NM_012330.4(KAT6B):c.4514A>G (p.Glu1505Gly) rs2134241318
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.4549C>A (p.Gln1517Lys)
NM_012330.4(KAT6B):c.4555A>C (p.Asn1519His)
NM_012330.4(KAT6B):c.457C>T (p.Arg153Ter) rs1564516087
NM_012330.4(KAT6B):c.460C>G (p.Leu154Val)
NM_012330.4(KAT6B):c.4648C>G (p.Gln1550Glu)
NM_012330.4(KAT6B):c.4660G>A (p.Glu1554Lys) rs761295315
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.4690G>A (p.Glu1564Lys)
NM_012330.4(KAT6B):c.4694C>T (p.Thr1565Ile)
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.4739A>G (p.Gln1580Arg)
NM_012330.4(KAT6B):c.4760C>A (p.Thr1587Lys)
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.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.4852A>G (p.Ser1618Gly) rs370040258
NM_012330.4(KAT6B):c.4885A>G (p.Ile1629Val)
NM_012330.4(KAT6B):c.4898A>C (p.Gln1633Pro)
NM_012330.4(KAT6B):c.4936A>G (p.Thr1646Ala)
NM_012330.4(KAT6B):c.4994G>A (p.Ser1665Asn)
NM_012330.4(KAT6B):c.5057A>G (p.Tyr1686Cys)
NM_012330.4(KAT6B):c.5070G>A (p.Met1690Ile)
NM_012330.4(KAT6B):c.5083T>A (p.Cys1695Ser) rs1408947850
NM_012330.4(KAT6B):c.5093G>A (p.Gly1698Asp)
NM_012330.4(KAT6B):c.509C>G (p.Pro170Arg)
NM_012330.4(KAT6B):c.5200_5241dup (p.Ser1747_Val1748insMetLeuGlnGlnThrSerIleSerSerProProThrCysSer)
NM_012330.4(KAT6B):c.5228C>T (p.Pro1743Leu)
NM_012330.4(KAT6B):c.5254C>G (p.Gln1752Glu)
NM_012330.4(KAT6B):c.5257G>T (p.Gly1753Cys)
NM_012330.4(KAT6B):c.5263G>A (p.Val1755Met)
NM_012330.4(KAT6B):c.527A>G (p.Tyr176Cys)
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.533G>T (p.Ser178Ile)
NM_012330.4(KAT6B):c.5356G>A (p.Glu1786Lys)
NM_012330.4(KAT6B):c.5371A>G (p.Asn1791Asp)
NM_012330.4(KAT6B):c.5423A>G (p.Tyr1808Cys)
NM_012330.4(KAT6B):c.5432C>T (p.Pro1811Leu)
NM_012330.4(KAT6B):c.5434T>C (p.Ser1812Pro)
NM_012330.4(KAT6B):c.5476A>G (p.Thr1826Ala)
NM_012330.4(KAT6B):c.5488C>T (p.His1830Tyr) rs752572188
NM_012330.4(KAT6B):c.5506C>A (p.His1836Asn)
NM_012330.4(KAT6B):c.550G>A (p.Ala184Thr)
NM_012330.4(KAT6B):c.5547G>T (p.Leu1849Phe)
NM_012330.4(KAT6B):c.5554C>T (p.Pro1852Ser)
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.5665A>G (p.Met1889Val)
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.5731C>T (p.Gln1911Ter) rs1564633281
NM_012330.4(KAT6B):c.573C>G (p.Phe191Leu)
NM_012330.4(KAT6B):c.577T>C (p.Ser193Pro)
NM_012330.4(KAT6B):c.5788G>A (p.Ala1930Thr)
NM_012330.4(KAT6B):c.5806G>A (p.Ala1936Thr)
NM_012330.4(KAT6B):c.5806G>C (p.Ala1936Pro)
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.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.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.5949C>A (p.Asn1983Lys) rs745470061
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.6001A>G (p.Met2001Val)
NM_012330.4(KAT6B):c.6037A>G (p.Met2013Val) rs1846270592
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.6109C>A (p.Pro2037Thr)
NM_012330.4(KAT6B):c.6112A>G (p.Met2038Val)
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.6196C>G (p.Leu2066Val) rs901914485
NM_012330.4(KAT6B):c.6200A>G (p.Asn2067Ser)
NM_012330.4(KAT6B):c.622-53842A>G rs2132837198
NM_012330.4(KAT6B):c.6221A>G (p.Ter2074Trp)
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.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.758C>T (p.Pro253Leu)
NM_012330.4(KAT6B):c.779A>G (p.Lys260Arg)
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.881G>A (p.Gly294Glu)
NM_012330.4(KAT6B):c.928+1G>T

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