GRCh37/hg19 17q21.31(chr17:44166455-44291399)x3
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NM_015443.4(KANSL1):c.*3G>A
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rs372125138
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NM_015443.4(KANSL1):c.-47C>T
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rs765669550
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NM_015443.4(KANSL1):c.-89-303A>G
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NM_015443.4(KANSL1):c.-89-337A>G
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NM_015443.4(KANSL1):c.-90+512del
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NM_015443.4(KANSL1):c.1000A>G (p.Asn334Asp)
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rs112150341
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NM_015443.4(KANSL1):c.1022G>A (p.Arg341Gln)
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rs371321182
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NM_015443.4(KANSL1):c.1049C>G (p.Ala350Gly)
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NM_015443.4(KANSL1):c.1057G>A (p.Ala353Thr)
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NM_015443.4(KANSL1):c.1080G>A (p.Glu360=)
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rs1232525310
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NM_015443.4(KANSL1):c.1087A>G (p.Thr363Ala)
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NM_015443.4(KANSL1):c.1106A>G (p.Asn369Ser)
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rs139564524
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NM_015443.4(KANSL1):c.1124C>T (p.Ser375Leu)
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rs142696045
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NM_015443.4(KANSL1):c.112G>A (p.Gly38Ser)
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rs770738115
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NM_015443.4(KANSL1):c.1152A>G (p.Thr384=)
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rs1597870803
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NM_015443.4(KANSL1):c.1157G>T (p.Ser386Ile)
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rs143589497
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NM_015443.4(KANSL1):c.1180A>G (p.Ser394Gly)
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rs751709708
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NM_015443.4(KANSL1):c.1185A>G (p.Glu395=)
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rs199820469
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NM_015443.4(KANSL1):c.1187A>T (p.Gln396Leu)
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rs149302199
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NM_015443.4(KANSL1):c.1189G>A (p.Ala397Thr)
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rs138565467
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NM_015443.4(KANSL1):c.118G>A (p.Ala40Thr)
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rs376632173
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NM_015443.4(KANSL1):c.122A>G (p.Asn41Ser)
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rs142587760
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NM_015443.4(KANSL1):c.1269C>T (p.Pro423=)
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rs750165871
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NM_015443.4(KANSL1):c.1276C>T (p.Arg426Cys)
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rs757224600
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NM_015443.4(KANSL1):c.1285C>A (p.Pro429Thr)
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rs142062936
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NM_015443.4(KANSL1):c.12G>A (p.Met4Ile)
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rs146472353
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NM_015443.4(KANSL1):c.1432-140G>T
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NM_015443.4(KANSL1):c.1491A>C (p.Pro497=)
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NM_015443.4(KANSL1):c.1512A>G (p.Thr504=)
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rs1483287405
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NM_015443.4(KANSL1):c.1522A>T (p.Thr508Ser)
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rs1598573095
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NM_015443.4(KANSL1):c.1533+161G>A
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rs117475340
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NM_015443.4(KANSL1):c.1534-300CT[5]
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rs144435729
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NM_015443.4(KANSL1):c.1613C>T (p.Ser538Leu)
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rs142435060
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NM_015443.4(KANSL1):c.1652+48T>C
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NM_015443.4(KANSL1):c.1653-177A>G
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rs111288789
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NM_015443.4(KANSL1):c.1671A>G (p.Ala557=)
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rs769241683
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NM_015443.4(KANSL1):c.1672G>C (p.Asp558His)
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rs796052594
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NM_015443.4(KANSL1):c.1673A>T (p.Asp558Val)
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rs551923672
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NM_015443.4(KANSL1):c.1751C>T (p.Ser584Phe)
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rs544459109
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NM_015443.4(KANSL1):c.1794C>A (p.Ser598Arg)
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rs749811911
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NM_015443.4(KANSL1):c.1826G>A (p.Ser609Asn)
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rs138698439
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NM_015443.4(KANSL1):c.1830C>A (p.Ile610=)
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rs150800846
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NM_015443.4(KANSL1):c.1839T>C (p.Leu613=)
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rs1598526728
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NM_015443.4(KANSL1):c.1849-283A>G
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rs147080346
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NM_015443.4(KANSL1):c.1899C>T (p.Cys633=)
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NM_015443.4(KANSL1):c.1929C>T (p.Thr643=)
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rs937831873
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NM_015443.4(KANSL1):c.19G>A (p.Ala7Thr)
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rs768152581
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NM_015443.4(KANSL1):c.2021-234A>C
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NM_015443.4(KANSL1):c.2067G>T (p.Trp689Cys)
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rs755418917
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NM_015443.4(KANSL1):c.2110T>C (p.Ser704Pro)
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rs202231419
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NM_015443.4(KANSL1):c.213C>T (p.Asp71=)
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rs1041951554
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NM_015443.4(KANSL1):c.2158C>T (p.Arg720Cys)
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rs376233499
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NM_015443.4(KANSL1):c.2203+75G>A
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NM_015443.4(KANSL1):c.2204-11C>A
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rs373489007
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NM_015443.4(KANSL1):c.2224C>T (p.Arg742Trp)
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rs150282556
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NM_015443.4(KANSL1):c.2233A>G (p.Arg745Gly)
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rs796052596
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NM_015443.4(KANSL1):c.2256C>T (p.Asp752=)
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rs760224197
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NM_015443.4(KANSL1):c.2271G>A (p.Val757=)
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rs1598456648
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NM_015443.4(KANSL1):c.2294C>T (p.Ala765Val)
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rs151099014
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NM_015443.4(KANSL1):c.2298A>G (p.Pro766=)
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rs367624499
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NM_015443.4(KANSL1):c.22C>G (p.Leu8Val)
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NM_015443.4(KANSL1):c.2393-9C>A
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rs1004017370
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NM_015443.4(KANSL1):c.2424G>A (p.Ser808=)
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rs570967215
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NM_015443.4(KANSL1):c.2481C>T (p.Ser827=)
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rs143653891
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NM_015443.4(KANSL1):c.2502A>G (p.Ala834=)
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rs749802464
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NM_015443.4(KANSL1):c.2509A>G (p.Ser837Gly)
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rs776349500
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NM_015443.4(KANSL1):c.2589C>T (p.Asn863=)
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rs1555731788
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NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del)
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rs551968687
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NM_015443.4(KANSL1):c.2755G>A (p.Ala919Thr)
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rs776547113
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NM_015443.4(KANSL1):c.2837+7G>T
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rs780476310
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NM_015443.4(KANSL1):c.2856C>T (p.Asp952=)
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rs1431158114
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NM_015443.4(KANSL1):c.3002C>T (p.Pro1001Leu)
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rs1037585739
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NM_015443.4(KANSL1):c.3031C>A (p.Arg1011=)
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rs779686052
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NM_015443.4(KANSL1):c.3038T>C (p.Leu1013Ser)
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rs138490347
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NM_015443.4(KANSL1):c.3056G>A (p.Arg1019His)
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rs781056926
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NM_015443.4(KANSL1):c.3057T>C (p.Arg1019=)
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rs1598441174
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NM_015443.4(KANSL1):c.3090+43A>G
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NM_015443.4(KANSL1):c.3091-10C>T
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rs199901217
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NM_015443.4(KANSL1):c.3091-167C>T
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NM_015443.4(KANSL1):c.3091-5_3091-2dup
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rs760084513
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NM_015443.4(KANSL1):c.3123C>G (p.Pro1041=)
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rs960036500
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NM_015443.4(KANSL1):c.3146A>G (p.Glu1049Gly)
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rs771796347
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NM_015443.4(KANSL1):c.3260C>T (p.Pro1087Leu)
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rs781609742
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NM_015443.4(KANSL1):c.3264C>T (p.Leu1088=)
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rs370904425
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NM_015443.4(KANSL1):c.3266A>G (p.Lys1089Arg)
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rs1568364868
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NM_015443.4(KANSL1):c.37G>A (p.Ala13Thr)
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rs528026295
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NM_015443.4(KANSL1):c.387A>G (p.Pro129=)
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rs753493307
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NM_015443.4(KANSL1):c.399_400insAAT (p.Ser134_Leu135insAsn)
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rs770503769
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NM_015443.4(KANSL1):c.477G>T (p.Lys159Asn)
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rs188294801
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NM_015443.4(KANSL1):c.500A>G (p.His167Arg)
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rs779594202
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NM_015443.4(KANSL1):c.525C>T (p.Ser175=)
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rs148321376
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NM_015443.4(KANSL1):c.530A>G (p.Asn177Ser)
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rs765213873
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NM_015443.4(KANSL1):c.541C>T (p.Arg181Trp)
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rs375225315
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NM_015443.4(KANSL1):c.570G>A (p.Gly190=)
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rs1365962710
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NM_015443.4(KANSL1):c.610G>A (p.Gly204Ser)
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rs1057520810
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NM_015443.4(KANSL1):c.620A>G (p.Asn207Ser)
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rs144882998
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NM_015443.4(KANSL1):c.669T>C (p.Tyr223=)
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rs778659171
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NM_015443.4(KANSL1):c.701T>C (p.Val234Ala)
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rs199948200
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NM_015443.4(KANSL1):c.702C>A (p.Val234=)
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rs1057521846
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NM_015443.4(KANSL1):c.719C>T (p.Pro240Leu)
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rs767565501
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NM_015443.4(KANSL1):c.727C>A (p.Gln243Lys)
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rs142096969
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NM_015443.4(KANSL1):c.736A>G (p.Ser246Gly)
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rs141969887
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NM_015443.4(KANSL1):c.773T>C (p.Leu258Ser)
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rs145714368
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NM_015443.4(KANSL1):c.778G>A (p.Gly260Ser)
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rs1159067199
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NM_015443.4(KANSL1):c.850A>G (p.Ile284Val)
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rs766991003
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NM_015443.4(KANSL1):c.889C>T (p.Arg297Cys)
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rs772236084
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NM_015443.4(KANSL1):c.930C>T (p.Ala310=)
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rs763673329
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NM_015443.4(KANSL1):c.954A>G (p.Gln318=)
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rs773332161
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