ClinVar Miner

List of variants in gene KIAA0586 reported as uncertain significance for cerebellar ataxia

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 587
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HGVS dbSNP gnomAD frequency
NM_001329943.3(KIAA0586):c.4482_4483del (p.Val1496fs) rs777199366 0.00056
NM_001329943.3(KIAA0586):c.4160C>T (p.Thr1387Ile) rs376795880 0.00049
NM_001329943.3(KIAA0586):c.1522A>G (p.Ile508Val) rs61745095 0.00048
NM_001244189.2(KIAA0586):c.5T>G (p.Phe2Cys) rs551740936 0.00041
NM_001329943.3(KIAA0586):c.4325A>G (p.Tyr1442Cys) rs200127338 0.00039
NM_001329943.3(KIAA0586):c.1407G>T (p.Gln469His) rs200446131 0.00032
NM_001329943.3(KIAA0586):c.2503C>G (p.Leu835Val) rs113040775 0.00029
NM_001329943.3(KIAA0586):c.3407T>C (p.Ile1136Thr) rs200148591 0.00029
NM_001329943.3(KIAA0586):c.3355A>G (p.Thr1119Ala) rs896789657 0.00024
NM_001329943.3(KIAA0586):c.3374C>T (p.Ala1125Val) rs201898983 0.00024
NM_001244189.2(KIAA0586):c.3G>A (p.Met1Ile) rs753810786 0.00020
NM_001329943.3(KIAA0586):c.1237C>T (p.Pro413Ser) rs377325998 0.00019
NM_001329943.3(KIAA0586):c.411-1363G>C rs570489575 0.00019
NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys) rs199537542 0.00018
NM_001329943.3(KIAA0586):c.730G>C (p.Glu244Gln) rs376338487 0.00018
NM_001329943.3(KIAA0586):c.411-1369A>G rs1044844835 0.00016
NM_001329943.3(KIAA0586):c.3377C>T (p.Ala1126Val) rs750969059 0.00015
NM_001329943.3(KIAA0586):c.1259C>T (p.Pro420Leu) rs187783779 0.00014
NM_001329943.3(KIAA0586):c.1490A>G (p.Asn497Ser) rs753633031 0.00014
NM_001329943.3(KIAA0586):c.395C>G (p.Thr132Arg) rs200627657 0.00014
NM_001329943.3(KIAA0586):c.3980A>G (p.Tyr1327Cys) rs201929144 0.00014
NM_001329943.3(KIAA0586):c.2287C>T (p.Pro763Ser) rs776790149 0.00013
NM_001329943.3(KIAA0586):c.1987C>T (p.Pro663Ser) rs370560098 0.00012
NM_001329943.3(KIAA0586):c.1393C>T (p.Pro465Ser) rs376681702 0.00011
NM_001329943.3(KIAA0586):c.2077A>G (p.Ile693Val) rs200735064 0.00011
NM_001329943.3(KIAA0586):c.215C>T (p.Thr72Ile) rs201393625 0.00011
NM_001329943.3(KIAA0586):c.1080G>C (p.Arg360Ser) rs200094677 0.00010
NM_001329943.3(KIAA0586):c.2903T>C (p.Val968Ala) rs753972803 0.00010
NM_001329943.3(KIAA0586):c.36A>C (p.Lys12Asn) rs372215354 0.00010
NM_001329943.3(KIAA0586):c.3841C>T (p.His1281Tyr) rs371424977 0.00009
NM_001329943.3(KIAA0586):c.411-1359T>G rs1051790402 0.00009
NM_001329943.3(KIAA0586):c.2831A>T (p.Glu944Val) rs181400417 0.00008
NM_001329943.3(KIAA0586):c.3047C>T (p.Thr1016Ile) rs372259984 0.00008
NM_001329943.3(KIAA0586):c.347A>G (p.Asp116Gly) rs376113173 0.00008
NM_001329943.3(KIAA0586):c.4162G>A (p.Val1388Ile) rs369067010 0.00008
NM_001329943.3(KIAA0586):c.4315T>G (p.Phe1439Val) rs200405048 0.00008
NM_001329943.3(KIAA0586):c.1846G>T (p.Gly616Cys) rs766453312 0.00007
NM_001329943.3(KIAA0586):c.2943T>G (p.Ile981Met) rs370778483 0.00007
NM_001329943.3(KIAA0586):c.1657G>C (p.Asp553His) rs1214561950 0.00006
NM_001329943.3(KIAA0586):c.1917T>G (p.Asp639Glu) rs376649351 0.00006
NM_001329943.3(KIAA0586):c.3031G>A (p.Glu1011Lys) rs755889131 0.00006
NM_001329943.3(KIAA0586):c.3698C>G (p.Thr1233Ser) rs201702546 0.00006
NM_001329943.3(KIAA0586):c.3988G>A (p.Glu1330Lys) rs373649439 0.00006
NM_001329943.3(KIAA0586):c.568G>A (p.Ala190Thr) rs755205238 0.00006
NM_001329943.3(KIAA0586):c.667C>T (p.Arg223Cys) rs573870218 0.00006
NM_001329943.3(KIAA0586):c.807+3A>T rs771308299 0.00006
NM_001329943.3(KIAA0586):c.914T>C (p.Leu305Pro) rs553130671 0.00006
NM_001329943.3(KIAA0586):c.938A>G (p.Tyr313Cys) rs191232589 0.00006
NM_001329943.3(KIAA0586):c.1253+3A>G rs762698768 0.00005
NM_001329943.3(KIAA0586):c.928C>T (p.Pro310Ser) rs1054781365 0.00005
NM_001329943.3(KIAA0586):c.968T>C (p.Leu323Ser) rs563531719 0.00005
NM_001329943.3(KIAA0586):c.1031G>A (p.Arg344His) rs773375756 0.00004
NM_001329943.3(KIAA0586):c.1433A>G (p.Asn478Ser) rs773524165 0.00004
NM_001329943.3(KIAA0586):c.1847G>C (p.Gly616Ala) rs774592908 0.00004
NM_001329943.3(KIAA0586):c.2015C>G (p.Pro672Arg) rs749825699 0.00004
NM_001329943.3(KIAA0586):c.2026C>T (p.Pro676Ser) rs967603971 0.00004
NM_001329943.3(KIAA0586):c.2531C>A (p.Pro844His) rs200490147 0.00004
NM_001329943.3(KIAA0586):c.3257C>T (p.Ser1086Leu) rs772256006 0.00004
NM_001329943.3(KIAA0586):c.3261T>A (p.Asp1087Glu) rs1049863128 0.00004
NM_001329943.3(KIAA0586):c.3556C>A (p.Pro1186Thr) rs368136238 0.00004
NM_001329943.3(KIAA0586):c.3682A>G (p.Ser1228Gly) rs761946256 0.00004
NM_001329943.3(KIAA0586):c.4436C>G (p.Pro1479Arg) rs374096160 0.00004
NM_001329943.3(KIAA0586):c.4495+3791G>A rs924361010 0.00004
NM_001329943.3(KIAA0586):c.620T>C (p.Val207Ala) rs199837404 0.00004
NM_001329943.3(KIAA0586):c.1160A>G (p.Asn387Ser) rs1168640996 0.00003
NM_001329943.3(KIAA0586):c.1444T>C (p.Ser482Pro) rs375472516 0.00003
NM_001329943.3(KIAA0586):c.1797A>T (p.Lys599Asn) rs556030955 0.00003
NM_001329943.3(KIAA0586):c.2198T>C (p.Met733Thr) rs752363556 0.00003
NM_001329943.3(KIAA0586):c.2354G>A (p.Arg785Gln) rs372212501 0.00003
NM_001329943.3(KIAA0586):c.2623G>A (p.Asp875Asn) rs770913768 0.00003
NM_001329943.3(KIAA0586):c.2965G>A (p.Ala989Thr) rs767605168 0.00003
NM_001329943.3(KIAA0586):c.3526A>G (p.Ile1176Val) rs777965178 0.00003
NM_001329943.3(KIAA0586):c.3908A>G (p.Lys1303Arg) rs767855931 0.00003
NM_001329943.3(KIAA0586):c.4261A>G (p.Thr1421Ala) rs962979142 0.00003
NM_001329943.3(KIAA0586):c.4573G>A (p.Glu1525Lys) rs375085808 0.00003
NM_001329943.3(KIAA0586):c.518T>C (p.Ile173Thr) rs773960033 0.00003
NM_001329943.3(KIAA0586):c.986C>T (p.Thr329Met) rs747277541 0.00003
NM_001244189.2(KIAA0586):c.4T>C (p.Phe2Leu) rs1251319519 0.00002
NM_001244189.2(KIAA0586):c.9+1G>A rs1490434047 0.00002
NM_001329943.3(KIAA0586):c.1478G>C (p.Gly493Ala) rs780301208 0.00002
NM_001329943.3(KIAA0586):c.1529G>A (p.Arg510His) rs749710241 0.00002
NM_001329943.3(KIAA0586):c.2033G>A (p.Arg678Lys) rs1040832003 0.00002
NM_001329943.3(KIAA0586):c.2171A>G (p.Gln724Arg) rs758553529 0.00002
NM_001329943.3(KIAA0586):c.2201C>G (p.Pro734Arg) rs372160214 0.00002
NM_001329943.3(KIAA0586):c.2269A>G (p.Asn757Asp) rs770532816 0.00002
NM_001329943.3(KIAA0586):c.2279C>A (p.Thr760Asn) rs745459956 0.00002
NM_001329943.3(KIAA0586):c.2288C>T (p.Pro763Leu) rs762324359 0.00002
NM_001329943.3(KIAA0586):c.2338A>G (p.Ile780Val) rs752597351 0.00002
NM_001329943.3(KIAA0586):c.2634+4A>G rs1373493143 0.00002
NM_001329943.3(KIAA0586):c.269G>A (p.Ser90Asn) rs780403471 0.00002
NM_001329943.3(KIAA0586):c.2743G>A (p.Ala915Thr) rs757075176 0.00002
NM_001329943.3(KIAA0586):c.2765C>T (p.Ala922Val) rs778611816 0.00002
NM_001329943.3(KIAA0586):c.2810A>G (p.Asn937Ser) rs1287641719 0.00002
NM_001329943.3(KIAA0586):c.2984A>G (p.Asp995Gly) rs368583200 0.00002
NM_001329943.3(KIAA0586):c.3259G>A (p.Asp1087Asn) rs780444812 0.00002
NM_001329943.3(KIAA0586):c.3260A>G (p.Asp1087Gly) rs747213685 0.00002
NM_001329943.3(KIAA0586):c.3343A>G (p.Thr1115Ala) rs773967297 0.00002
NM_001329943.3(KIAA0586):c.3511C>G (p.Leu1171Val) rs752970542 0.00002
NM_001329943.3(KIAA0586):c.3971A>G (p.Gln1324Arg) rs554032625 0.00002
NM_001329943.3(KIAA0586):c.4093C>T (p.Pro1365Ser) rs776582851 0.00002
NM_001329943.3(KIAA0586):c.411-1420A>G rs1037899594 0.00002
NM_001329943.3(KIAA0586):c.4207A>G (p.Met1403Val) rs890327400 0.00002
NM_001329943.3(KIAA0586):c.4451G>A (p.Arg1484Gln) rs746312329 0.00002
NM_001329943.3(KIAA0586):c.768G>C (p.Arg256Ser) rs757161449 0.00002
NM_001329943.3(KIAA0586):c.836C>T (p.Thr279Ile) rs779264142 0.00002
NM_001329943.3(KIAA0586):c.*10G>A rs1280881561 0.00001
NM_001329943.3(KIAA0586):c.*24del rs775748329 0.00001
NM_001329943.3(KIAA0586):c.1007C>G (p.Ser336Cys) rs781781110 0.00001
NM_001329943.3(KIAA0586):c.103T>A (p.Leu35Met) rs769423672 0.00001
NM_001329943.3(KIAA0586):c.1045G>A (p.Val349Ile) rs771000156 0.00001
NM_001329943.3(KIAA0586):c.1048_1049insACA (p.Pro350delinsHisThr) rs1406399353 0.00001
NM_001329943.3(KIAA0586):c.1078A>T (p.Arg360Trp) rs932782936 0.00001
NM_001329943.3(KIAA0586):c.1253+4A>G rs1182604650 0.00001
NM_001329943.3(KIAA0586):c.1396G>A (p.Asp466Asn) rs757196467 0.00001
NM_001329943.3(KIAA0586):c.1414G>A (p.Val472Ile) rs779792778 0.00001
NM_001329943.3(KIAA0586):c.1516G>A (p.Glu506Lys) rs746704306 0.00001
NM_001329943.3(KIAA0586):c.1528C>T (p.Arg510Cys) rs778123212 0.00001
NM_001329943.3(KIAA0586):c.154C>T (p.Arg52Cys) rs1445118511 0.00001
NM_001329943.3(KIAA0586):c.155G>A (p.Arg52His) rs753917457 0.00001
NM_001329943.3(KIAA0586):c.1574C>G (p.Ser525Cys) rs1173352052 0.00001
NM_001329943.3(KIAA0586):c.1588A>T (p.Met530Leu) rs747120591 0.00001
NM_001329943.3(KIAA0586):c.1676A>G (p.Asp559Gly) rs1020004939 0.00001
NM_001329943.3(KIAA0586):c.1738A>G (p.Lys580Glu) rs1297075839 0.00001
NM_001329943.3(KIAA0586):c.1745T>C (p.Ile582Thr) rs1039498791 0.00001
NM_001329943.3(KIAA0586):c.1918G>A (p.Glu640Lys) rs1595193868 0.00001
NM_001329943.3(KIAA0586):c.1967G>A (p.Arg656Gln) rs1047721846 0.00001
NM_001329943.3(KIAA0586):c.199+6T>A rs764690540 0.00001
NM_001329943.3(KIAA0586):c.2051G>A (p.Arg684Gln) rs547990270 0.00001
NM_001329943.3(KIAA0586):c.2092G>T (p.Asp698Tyr) rs371583234 0.00001
NM_001329943.3(KIAA0586):c.2104A>G (p.Thr702Ala) rs558410911 0.00001
NM_001329943.3(KIAA0586):c.2119A>G (p.Met707Val) rs1200934389 0.00001
NM_001329943.3(KIAA0586):c.2123A>G (p.Asp708Gly) rs373601253 0.00001
NM_001329943.3(KIAA0586):c.2228A>T (p.His743Leu) rs1190897774 0.00001
NM_001329943.3(KIAA0586):c.2402T>A (p.Met801Lys) rs1267499182 0.00001
NM_001329943.3(KIAA0586):c.2417A>G (p.Lys806Arg) rs773759282 0.00001
NM_001329943.3(KIAA0586):c.2418G>C (p.Lys806Asn) rs922088604 0.00001
NM_001329943.3(KIAA0586):c.245T>C (p.Leu82Ser) rs955530356 0.00001
NM_001329943.3(KIAA0586):c.2511C>A (p.Ser837Arg) rs377409718 0.00001
NM_001329943.3(KIAA0586):c.2533C>T (p.Pro845Ser) rs377023593 0.00001
NM_001329943.3(KIAA0586):c.2629A>C (p.Ile877Leu) rs1338718674 0.00001
NM_001329943.3(KIAA0586):c.2654A>G (p.Glu885Gly) rs770688785 0.00001
NM_001329943.3(KIAA0586):c.2719A>G (p.Asn907Asp) rs1261333772 0.00001
NM_001329943.3(KIAA0586):c.2728C>T (p.Pro910Ser) rs752882356 0.00001
NM_001329943.3(KIAA0586):c.2804T>A (p.Leu935Gln) rs537951340 0.00001
NM_001329943.3(KIAA0586):c.2822A>T (p.Gln941Leu) rs768032063 0.00001
NM_001329943.3(KIAA0586):c.2866T>C (p.Phe956Leu) rs943207254 0.00001
NM_001329943.3(KIAA0586):c.2908G>A (p.Val970Ile) rs368808852 0.00001
NM_001329943.3(KIAA0586):c.2938G>C (p.Asp980His) rs754818478 0.00001
NM_001329943.3(KIAA0586):c.2947G>A (p.Glu983Lys) rs563109987 0.00001
NM_001329943.3(KIAA0586):c.3143C>T (p.Pro1048Leu) rs369859399 0.00001
NM_001329943.3(KIAA0586):c.3170C>T (p.Thr1057Ile) rs772489368 0.00001
NM_001329943.3(KIAA0586):c.3205C>T (p.Pro1069Ser) rs766060506 0.00001
NM_001329943.3(KIAA0586):c.3247C>T (p.Pro1083Ser) rs373431045 0.00001
NM_001329943.3(KIAA0586):c.3325A>G (p.Met1109Val) rs773159825 0.00001
NM_001329943.3(KIAA0586):c.3350C>A (p.Thr1117Asn) rs758962196 0.00001
NM_001329943.3(KIAA0586):c.3391C>T (p.Pro1131Ser) rs1413013409 0.00001
NM_001329943.3(KIAA0586):c.3404A>G (p.Asp1135Gly) rs751729993 0.00001
NM_001329943.3(KIAA0586):c.3422T>C (p.Leu1141Ser) rs755937342 0.00001
NM_001329943.3(KIAA0586):c.3450G>C (p.Lys1150Asn) rs199517530 0.00001
NM_001329943.3(KIAA0586):c.3515A>T (p.His1172Leu) rs1190269049 0.00001
NM_001329943.3(KIAA0586):c.3542C>G (p.Ala1181Gly) rs910865335 0.00001
NM_001329943.3(KIAA0586):c.3599C>T (p.Pro1200Leu) rs539304161 0.00001
NM_001329943.3(KIAA0586):c.3679G>C (p.Glu1227Gln) rs560315226 0.00001
NM_001329943.3(KIAA0586):c.3715A>G (p.Thr1239Ala) rs201889432 0.00001
NM_001329943.3(KIAA0586):c.3791A>T (p.Asp1264Val) rs1223415414 0.00001
NM_001329943.3(KIAA0586):c.3797G>C (p.Gly1266Ala) rs1256817386 0.00001
NM_001329943.3(KIAA0586):c.3857T>C (p.Met1286Thr) rs1256644781 0.00001
NM_001329943.3(KIAA0586):c.3884A>G (p.Gln1295Arg) rs1019828731 0.00001
NM_001329943.3(KIAA0586):c.3885A>C (p.Gln1295His) rs779179754 0.00001
NM_001329943.3(KIAA0586):c.3910T>A (p.Phe1304Ile) rs1441855459 0.00001
NM_001329943.3(KIAA0586):c.3914A>T (p.His1305Leu) rs966912655 0.00001
NM_001329943.3(KIAA0586):c.3935T>C (p.Phe1312Ser) rs912168236 0.00001
NM_001329943.3(KIAA0586):c.3G>A (p.Met1Ile) rs775143643 0.00001
NM_001329943.3(KIAA0586):c.4060A>G (p.Ile1354Val) rs1446993944 0.00001
NM_001329943.3(KIAA0586):c.4067T>C (p.Met1356Thr) rs1188851321 0.00001
NM_001329943.3(KIAA0586):c.4094C>T (p.Pro1365Leu) rs752429234 0.00001
NM_001329943.3(KIAA0586):c.4147C>T (p.Arg1383Trp) rs1015444951 0.00001
NM_001329943.3(KIAA0586):c.419G>A (p.Ser140Asn) rs754191741 0.00001
NM_001329943.3(KIAA0586):c.4496-3808A>C rs181384924 0.00001
NM_001329943.3(KIAA0586):c.4512A>G (p.Pro1504=) rs1476732636 0.00001
NM_001329943.3(KIAA0586):c.4572C>T (p.Leu1524=) rs371910625 0.00001
NM_001329943.3(KIAA0586):c.484G>A (p.Val162Ile) rs540188519 0.00001
NM_001329943.3(KIAA0586):c.52G>A (p.Val18Met) rs1260723288 0.00001
NM_001329943.3(KIAA0586):c.556G>C (p.Ala186Pro) rs758886732 0.00001
NM_001329943.3(KIAA0586):c.592A>C (p.Ser198Arg) rs375374719 0.00001
NM_001329943.3(KIAA0586):c.668G>A (p.Arg223His) rs779062959 0.00001
NM_001329943.3(KIAA0586):c.70G>T (p.Val24Leu) rs780198735 0.00001
NM_001329943.3(KIAA0586):c.848A>G (p.Gln283Arg) rs772425621 0.00001
NM_001329943.3(KIAA0586):c.868T>G (p.Ser290Ala) rs1372486181 0.00001
NM_001329943.3(KIAA0586):c.881A>G (p.Glu294Gly) rs765495285 0.00001
NM_001329943.3(KIAA0586):c.892G>A (p.Val298Ile) rs751564059 0.00001
NM_001329943.3(KIAA0586):c.956A>G (p.Lys319Arg) rs1297972335 0.00001
NC_000014.8:g.(?_58894347)_(58894375_?)del
NC_000014.8:g.(?_58894347)_(58899195_?)dup
NC_000014.8:g.(?_58894347)_(58917484_?)dup
NC_000014.8:g.(?_58894347)_(59014694_?)dup
NC_000014.8:g.(?_58910652)_(58910913_?)del
NC_000014.8:g.(?_59010581)_(59014694_?)dup
NM_001244189.2(KIAA0586):c.9+4A>C rs1029046238
NM_001244189.2(KIAA0586):c.9+5G>C
NM_001329943.3(KIAA0586):c.*3G>A rs748083468
NM_001329943.3(KIAA0586):c.-20C>T
NM_001329943.3(KIAA0586):c.-28G>A
NM_001329943.3(KIAA0586):c.-2A>G
NM_001329943.3(KIAA0586):c.-33C>G rs1246692312
NM_001329943.3(KIAA0586):c.-4C>G
NM_001329943.3(KIAA0586):c.100G>A (p.Val34Ile) rs186659284
NM_001329943.3(KIAA0586):c.1030C>T (p.Arg344Cys)
NM_001329943.3(KIAA0586):c.1088T>C (p.Leu363Pro)
NM_001329943.3(KIAA0586):c.1096G>A (p.Glu366Lys)
NM_001329943.3(KIAA0586):c.1099A>C (p.Lys367Gln)
NM_001329943.3(KIAA0586):c.1129+6A>C
NM_001329943.3(KIAA0586):c.1130G>A (p.Gly377Glu)
NM_001329943.3(KIAA0586):c.1133A>G (p.Asn378Ser)
NM_001329943.3(KIAA0586):c.1133A>T (p.Asn378Ile)
NM_001329943.3(KIAA0586):c.1152A>C (p.Gln384His) rs963677243
NM_001329943.3(KIAA0586):c.1163A>G (p.Asn388Ser)
NM_001329943.3(KIAA0586):c.1172C>G (p.Ser391Cys) rs2039563292
NM_001329943.3(KIAA0586):c.117G>C (p.Glu39Asp) rs190089844
NM_001329943.3(KIAA0586):c.1182A>C (p.Arg394Ser)
NM_001329943.3(KIAA0586):c.1187G>A (p.Ser396Asn) rs1349839476
NM_001329943.3(KIAA0586):c.1189G>A (p.Glu397Lys)
NM_001329943.3(KIAA0586):c.1196C>T (p.Ser399Leu) rs2140763302
NM_001329943.3(KIAA0586):c.1225A>G (p.Ile409Val)
NM_001329943.3(KIAA0586):c.1233G>T (p.Trp411Cys) rs548318176
NM_001329943.3(KIAA0586):c.1254-19A>T rs2140825179
NM_001329943.3(KIAA0586):c.125G>A (p.Cys42Tyr)
NM_001329943.3(KIAA0586):c.1273C>G (p.Leu425Val)
NM_001329943.3(KIAA0586):c.127G>A (p.Val43Ile)
NM_001329943.3(KIAA0586):c.1369G>C (p.Glu457Gln) rs2140843404
NM_001329943.3(KIAA0586):c.1373C>A (p.Ser458Tyr)
NM_001329943.3(KIAA0586):c.1405C>A (p.Gln469Lys) rs1323358756
NM_001329943.3(KIAA0586):c.1409A>G (p.Asn470Ser) rs1245858530
NM_001329943.3(KIAA0586):c.1424A>T (p.Gln475Leu)
NM_001329943.3(KIAA0586):c.143C>T (p.Ser48Phe) rs761150154
NM_001329943.3(KIAA0586):c.1443A>G (p.Arg481=)
NM_001329943.3(KIAA0586):c.1445C>T (p.Ser482Phe) rs369211190
NM_001329943.3(KIAA0586):c.1447G>A (p.Val483Ile)
NM_001329943.3(KIAA0586):c.1459G>T (p.Ala487Ser)
NM_001329943.3(KIAA0586):c.1484A>G (p.Gln495Arg) rs2040004897
NM_001329943.3(KIAA0586):c.1487A>G (p.Asn496Ser)
NM_001329943.3(KIAA0586):c.1501C>T (p.Leu501Phe)
NM_001329943.3(KIAA0586):c.1508A>G (p.Glu503Gly)
NM_001329943.3(KIAA0586):c.1512C>A (p.Asn504Lys)
NM_001329943.3(KIAA0586):c.1513C>G (p.Leu505Val)
NM_001329943.3(KIAA0586):c.1538A>G (p.Asp513Gly)
NM_001329943.3(KIAA0586):c.1573T>C (p.Ser525Pro)
NM_001329943.3(KIAA0586):c.1576A>T (p.Thr526Ser)
NM_001329943.3(KIAA0586):c.1631T>G (p.Ile544Ser) rs2140854100
NM_001329943.3(KIAA0586):c.1651A>G (p.Ile551Val)
NM_001329943.3(KIAA0586):c.1667C>T (p.Ser556Leu)
NM_001329943.3(KIAA0586):c.167G>A (p.Gly56Glu)
NM_001329943.3(KIAA0586):c.1745T>G (p.Ile582Ser)
NM_001329943.3(KIAA0586):c.1775A>G (p.Asn592Ser) rs2140874422
NM_001329943.3(KIAA0586):c.1799A>C (p.His600Pro)
NM_001329943.3(KIAA0586):c.1799A>G (p.His600Arg) rs780461594
NM_001329943.3(KIAA0586):c.1810C>G (p.Gln604Glu)
NM_001329943.3(KIAA0586):c.1852C>G (p.Pro618Ala)
NM_001329943.3(KIAA0586):c.1861A>G (p.Ser621Gly)
NM_001329943.3(KIAA0586):c.1870A>G (p.Lys624Glu)
NM_001329943.3(KIAA0586):c.1886G>A (p.Gly629Glu) rs940229482
NM_001329943.3(KIAA0586):c.1903A>G (p.Thr635Ala)
NM_001329943.3(KIAA0586):c.1916A>G (p.Asp639Gly) rs1210187670
NM_001329943.3(KIAA0586):c.1932A>T (p.Leu644Phe) rs2140886222
NM_001329943.3(KIAA0586):c.193T>C (p.Ser65Pro) rs1473572852
NM_001329943.3(KIAA0586):c.1964A>G (p.His655Arg) rs769913250
NM_001329943.3(KIAA0586):c.1999T>C (p.Phe667Leu)
NM_001329943.3(KIAA0586):c.199G>A (p.Gly67Ser) rs2140375856
NM_001329943.3(KIAA0586):c.2002A>T (p.Asn668Tyr)
NM_001329943.3(KIAA0586):c.2012C>G (p.Ser671Cys)
NM_001329943.3(KIAA0586):c.2017A>G (p.Lys673Glu)
NM_001329943.3(KIAA0586):c.2024G>A (p.Arg675Lys)
NM_001329943.3(KIAA0586):c.2041G>C (p.Val681Leu)
NM_001329943.3(KIAA0586):c.2044A>T (p.Ile682Leu) rs751924115
NM_001329943.3(KIAA0586):c.2059G>T (p.Gly687Cys)
NM_001329943.3(KIAA0586):c.2060G>T (p.Gly687Val)
NM_001329943.3(KIAA0586):c.2062A>G (p.Thr688Ala) rs2140939104
NM_001329943.3(KIAA0586):c.2063C>A (p.Thr688Asn) rs1868384082
NM_001329943.3(KIAA0586):c.2105C>T (p.Thr702Ile)
NM_001329943.3(KIAA0586):c.2131A>G (p.Met711Val)
NM_001329943.3(KIAA0586):c.213_270+11dup
NM_001329943.3(KIAA0586):c.2141C>G (p.Ser714Cys) rs2140939862
NM_001329943.3(KIAA0586):c.2153T>C (p.Leu718Ser)
NM_001329943.3(KIAA0586):c.2158C>T (p.His720Tyr) rs757373300
NM_001329943.3(KIAA0586):c.215C>A (p.Thr72Asn)
NM_001329943.3(KIAA0586):c.2164G>A (p.Asp722Asn)
NM_001329943.3(KIAA0586):c.2164G>T (p.Asp722Tyr) rs750671663
NM_001329943.3(KIAA0586):c.2185C>T (p.Pro729Ser) rs2140940326
NM_001329943.3(KIAA0586):c.2203A>G (p.Thr735Ala) rs1489902309
NM_001329943.3(KIAA0586):c.2207T>A (p.Phe736Tyr)
NM_001329943.3(KIAA0586):c.2213G>T (p.Gly738Val)
NM_001329943.3(KIAA0586):c.2239A>G (p.Met747Val)
NM_001329943.3(KIAA0586):c.2255-3T>C rs2140956887
NM_001329943.3(KIAA0586):c.2260A>T (p.Thr754Ser)
NM_001329943.3(KIAA0586):c.2270A>G (p.Asn757Ser)
NM_001329943.3(KIAA0586):c.2320G>A (p.Val774Ile)
NM_001329943.3(KIAA0586):c.2324C>A (p.Thr775Asn) rs2140957750
NM_001329943.3(KIAA0586):c.2348C>T (p.Ser783Leu)
NM_001329943.3(KIAA0586):c.2362G>A (p.Glu788Lys)
NM_001329943.3(KIAA0586):c.2380C>T (p.Pro794Ser)
NM_001329943.3(KIAA0586):c.2388A>G (p.Ile796Met)
NM_001329943.3(KIAA0586):c.2411A>G (p.Glu804Gly) rs1302610013
NM_001329943.3(KIAA0586):c.2411A>T (p.Glu804Val) rs1302610013
NM_001329943.3(KIAA0586):c.2413A>G (p.Lys805Glu)
NM_001329943.3(KIAA0586):c.241C>G (p.Leu81Val) rs2140391234
NM_001329943.3(KIAA0586):c.2426C>T (p.Pro809Leu)
NM_001329943.3(KIAA0586):c.2435C>A (p.Thr812Asn)
NM_001329943.3(KIAA0586):c.2437G>A (p.Val813Met)
NM_001329943.3(KIAA0586):c.2449C>G (p.Pro817Ala)
NM_001329943.3(KIAA0586):c.2461A>G (p.Ile821Val)
NM_001329943.3(KIAA0586):c.2462T>C (p.Ile821Thr) rs1320727649
NM_001329943.3(KIAA0586):c.2465A>G (p.Asp822Gly)
NM_001329943.3(KIAA0586):c.2469C>A (p.Ser823Arg)
NM_001329943.3(KIAA0586):c.2469_2483del (p.Ile824_Ser828del) rs750244824
NM_001329943.3(KIAA0586):c.2476A>C (p.Asn826His) rs763982126
NM_001329943.3(KIAA0586):c.2476A>G (p.Asn826Asp)
NM_001329943.3(KIAA0586):c.2480G>A (p.Ser827Asn)
NM_001329943.3(KIAA0586):c.2486C>A (p.Ala829Asp)
NM_001329943.3(KIAA0586):c.2486C>T (p.Ala829Val) rs200219991
NM_001329943.3(KIAA0586):c.2521G>A (p.Ala841Thr) rs2140987094
NM_001329943.3(KIAA0586):c.2525C>T (p.Ser842Phe) rs749680733
NM_001329943.3(KIAA0586):c.253C>T (p.Pro85Ser)
NM_001329943.3(KIAA0586):c.2553+6T>C
NM_001329943.3(KIAA0586):c.2553G>A (p.Lys851=) rs1024217852
NM_001329943.3(KIAA0586):c.2553G>T (p.Lys851Asn)
NM_001329943.3(KIAA0586):c.2554-14A>G
NM_001329943.3(KIAA0586):c.2557C>T (p.Pro853Ser)
NM_001329943.3(KIAA0586):c.257T>G (p.Met86Arg) rs74055693
NM_001329943.3(KIAA0586):c.2617A>G (p.Ile873Val) rs2041278053
NM_001329943.3(KIAA0586):c.2622C>G (p.Ile874Met)
NM_001329943.3(KIAA0586):c.2624A>T (p.Asp875Val) rs868621645
NM_001329943.3(KIAA0586):c.2630T>C (p.Ile877Thr)
NM_001329943.3(KIAA0586):c.2634+10C>G
NM_001329943.3(KIAA0586):c.2634+5C>G
NM_001329943.3(KIAA0586):c.2650G>A (p.Asp884Asn)
NM_001329943.3(KIAA0586):c.2693G>A (p.Ser898Asn) rs760087214
NM_001329943.3(KIAA0586):c.269G>C (p.Ser90Thr) rs780403471
NM_001329943.3(KIAA0586):c.270+3A>G rs2140391500
NM_001329943.3(KIAA0586):c.270+7A>C
NM_001329943.3(KIAA0586):c.2708C>A (p.Ser903Tyr)
NM_001329943.3(KIAA0586):c.2717A>G (p.Tyr906Cys)
NM_001329943.3(KIAA0586):c.2723G>C (p.Gly908Ala) rs753434086
NM_001329943.3(KIAA0586):c.2729C>T (p.Pro910Leu)
NM_001329943.3(KIAA0586):c.272A>G (p.Asp91Gly)
NM_001329943.3(KIAA0586):c.2749A>G (p.Thr917Ala)
NM_001329943.3(KIAA0586):c.2756A>G (p.Gln919Arg) rs2141025129
NM_001329943.3(KIAA0586):c.2758C>G (p.Pro920Ala)
NM_001329943.3(KIAA0586):c.2786T>C (p.Ile929Thr)
NM_001329943.3(KIAA0586):c.2788_2802del (p.Glu930_Thr934del) rs2141025393
NM_001329943.3(KIAA0586):c.2822A>G (p.Gln941Arg)
NM_001329943.3(KIAA0586):c.2826-8C>A rs2141053167
NM_001329943.3(KIAA0586):c.2839A>G (p.Ile947Val)
NM_001329943.3(KIAA0586):c.2849G>T (p.Arg950Ile) rs2141053576
NM_001329943.3(KIAA0586):c.2860G>T (p.Gly954Trp)
NM_001329943.3(KIAA0586):c.2885T>C (p.Ile962Thr)
NM_001329943.3(KIAA0586):c.2890C>T (p.Pro964Ser)
NM_001329943.3(KIAA0586):c.2894G>T (p.Ser965Ile) rs1161690227
NM_001329943.3(KIAA0586):c.2924A>G (p.Glu975Gly) rs2141054763
NM_001329943.3(KIAA0586):c.2936C>T (p.Ser979Phe)
NM_001329943.3(KIAA0586):c.2953A>G (p.Thr985Ala)
NM_001329943.3(KIAA0586):c.2960G>A (p.Ser987Asn)
NM_001329943.3(KIAA0586):c.2977T>C (p.Phe993Leu)
NM_001329943.3(KIAA0586):c.2990G>T (p.Gly997Val)
NM_001329943.3(KIAA0586):c.2T>A (p.Met1Lys) rs2140372595
NM_001329943.3(KIAA0586):c.3037C>G (p.Leu1013Val)
NM_001329943.3(KIAA0586):c.3053C>A (p.Ala1018Asp) rs182274649
NM_001329943.3(KIAA0586):c.3058A>G (p.Met1020Val) rs767378597
NM_001329943.3(KIAA0586):c.3077C>T (p.Ala1026Val)
NM_001329943.3(KIAA0586):c.3089G>A (p.Gly1030Asp) rs2042116751
NM_001329943.3(KIAA0586):c.3110C>G (p.Ser1037Cys) rs367811307
NM_001329943.3(KIAA0586):c.3144+3A>G rs956345090
NM_001329943.3(KIAA0586):c.3145-6_3145-2del
NM_001329943.3(KIAA0586):c.3149G>A (p.Arg1050Lys) rs1472123420
NM_001329943.3(KIAA0586):c.3152T>C (p.Val1051Ala)
NM_001329943.3(KIAA0586):c.3164T>C (p.Leu1055Pro) rs1453619075
NM_001329943.3(KIAA0586):c.3169_3171dup (p.Thr1057_Pro1058insThr)
NM_001329943.3(KIAA0586):c.3179C>G (p.Pro1060Arg)
NM_001329943.3(KIAA0586):c.3182C>T (p.Thr1061Met)
NM_001329943.3(KIAA0586):c.3185C>T (p.Pro1062Leu)
NM_001329943.3(KIAA0586):c.3190T>A (p.Cys1064Ser)
NM_001329943.3(KIAA0586):c.319G>A (p.Glu107Lys) rs2140404760
NM_001329943.3(KIAA0586):c.3206C>T (p.Pro1069Leu) rs2141182370
NM_001329943.3(KIAA0586):c.3226G>A (p.Val1076Ile)
NM_001329943.3(KIAA0586):c.3226G>T (p.Val1076Leu)
NM_001329943.3(KIAA0586):c.322G>A (p.Glu108Lys)
NM_001329943.3(KIAA0586):c.3232A>G (p.Thr1078Ala)
NM_001329943.3(KIAA0586):c.3238G>A (p.Asp1080Asn) rs2042507801
NM_001329943.3(KIAA0586):c.3250T>C (p.Cys1084Arg)
NM_001329943.3(KIAA0586):c.3266A>G (p.Asp1089Gly) rs187091758
NM_001329943.3(KIAA0586):c.3300A>T (p.Glu1100Asp)
NM_001329943.3(KIAA0586):c.3304+5A>C
NM_001329943.3(KIAA0586):c.3304G>A (p.Gly1102Arg)
NM_001329943.3(KIAA0586):c.3305-3T>C
NM_001329943.3(KIAA0586):c.3307G>A (p.Asp1103Asn) rs2141192396
NM_001329943.3(KIAA0586):c.3322A>G (p.Ile1108Val)
NM_001329943.3(KIAA0586):c.3326T>C (p.Met1109Thr)
NM_001329943.3(KIAA0586):c.3338C>T (p.Thr1113Ile)
NM_001329943.3(KIAA0586):c.335A>G (p.Gln112Arg)
NM_001329943.3(KIAA0586):c.3362C>T (p.Thr1121Ile) rs2141193303
NM_001329943.3(KIAA0586):c.3366TCC[1] (p.Pro1124del) rs770153870
NM_001329943.3(KIAA0586):c.3371C>T (p.Pro1124Leu)
NM_001329943.3(KIAA0586):c.3373G>A (p.Ala1125Thr) rs2141193523
NM_001329943.3(KIAA0586):c.3394A>G (p.Thr1132Ala)
NM_001329943.3(KIAA0586):c.3399G>T (p.Leu1133Phe) rs1409454378
NM_001329943.3(KIAA0586):c.33A>T (p.Lys11Asn)
NM_001329943.3(KIAA0586):c.3405T>G (p.Asp1135Glu)
NM_001329943.3(KIAA0586):c.3415_3416delinsTG (p.Asp1139Cys) rs2141194171
NM_001329943.3(KIAA0586):c.3418A>G (p.Lys1140Glu)
NM_001329943.3(KIAA0586):c.3427G>T (p.Val1143Leu)
NM_001329943.3(KIAA0586):c.3433A>T (p.Ser1145Cys)
NM_001329943.3(KIAA0586):c.3437C>T (p.Pro1146Leu) rs2042587558
NM_001329943.3(KIAA0586):c.344A>C (p.Asn115Thr)
NM_001329943.3(KIAA0586):c.3451C>A (p.Pro1151Thr) rs2141194729
NM_001329943.3(KIAA0586):c.3458G>T (p.Gly1153Val) rs2141194889
NM_001329943.3(KIAA0586):c.345T>A (p.Asn115Lys) rs778492541
NM_001329943.3(KIAA0586):c.3461A>T (p.Asp1154Val)
NM_001329943.3(KIAA0586):c.3479A>C (p.Glu1160Ala)
NM_001329943.3(KIAA0586):c.3490C>T (p.Pro1164Ser)
NM_001329943.3(KIAA0586):c.3500C>T (p.Pro1167Leu)
NM_001329943.3(KIAA0586):c.3505GAA[1] (p.Glu1170del) rs778377845
NM_001329943.3(KIAA0586):c.3510A>T (p.Glu1170Asp)
NM_001329943.3(KIAA0586):c.3518C>G (p.Pro1173Arg) rs2141195740
NM_001329943.3(KIAA0586):c.3544A>G (p.Lys1182Glu)
NM_001329943.3(KIAA0586):c.3562A>T (p.Ser1188Cys)
NM_001329943.3(KIAA0586):c.3566T>C (p.Met1189Thr)
NM_001329943.3(KIAA0586):c.3574C>T (p.Pro1192Ser)
NM_001329943.3(KIAA0586):c.3589C>T (p.Pro1197Ser)
NM_001329943.3(KIAA0586):c.3598C>G (p.Pro1200Ala)
NM_001329943.3(KIAA0586):c.3620C>T (p.Pro1207Leu) rs750251144
NM_001329943.3(KIAA0586):c.362A>T (p.Gln121Leu)
NM_001329943.3(KIAA0586):c.3631A>C (p.Lys1211Gln) rs754567597
NM_001329943.3(KIAA0586):c.3633G>C (p.Lys1211Asn) rs780785984
NM_001329943.3(KIAA0586):c.363G>T (p.Gln121His) rs368352741
NM_001329943.3(KIAA0586):c.365A>G (p.Tyr122Cys) rs746136288
NM_001329943.3(KIAA0586):c.3670T>G (p.Ser1224Ala) rs1292752792
NM_001329943.3(KIAA0586):c.3673A>G (p.Thr1225Ala)
NM_001329943.3(KIAA0586):c.367A>T (p.Thr123Ser) rs183240083
NM_001329943.3(KIAA0586):c.3685A>C (p.Thr1229Pro)
NM_001329943.3(KIAA0586):c.368C>A (p.Thr123Lys) rs2140422825
NM_001329943.3(KIAA0586):c.3704C>T (p.Thr1235Ile)
NM_001329943.3(KIAA0586):c.370A>G (p.Met124Val) rs2037453984
NM_001329943.3(KIAA0586):c.3716C>T (p.Thr1239Ile)
NM_001329943.3(KIAA0586):c.3739G>A (p.Gly1247Arg) rs1595348112
NM_001329943.3(KIAA0586):c.374G>A (p.Gly125Glu)
NM_001329943.3(KIAA0586):c.3780G>A (p.Lys1260=)
NM_001329943.3(KIAA0586):c.3794T>C (p.Ile1265Thr) rs756960694
NM_001329943.3(KIAA0586):c.3799C>G (p.Leu1267Val) rs1425457941
NM_001329943.3(KIAA0586):c.3808A>G (p.Thr1270Ala)
NM_001329943.3(KIAA0586):c.3820_3822del (p.Asp1274del) rs1399193101
NM_001329943.3(KIAA0586):c.3821A>G (p.Asp1274Gly)
NM_001329943.3(KIAA0586):c.3824G>C (p.Ser1275Thr) rs748648408
NM_001329943.3(KIAA0586):c.3843T>A (p.His1281Gln)
NM_001329943.3(KIAA0586):c.3850G>A (p.Val1284Ile)
NM_001329943.3(KIAA0586):c.3858+4A>G rs2042748796
NM_001329943.3(KIAA0586):c.3868_3869delinsGT (p.Pro1290Val)
NM_001329943.3(KIAA0586):c.3871C>T (p.Pro1291Ser)
NM_001329943.3(KIAA0586):c.3883C>G (p.Gln1295Glu) rs2141237535
NM_001329943.3(KIAA0586):c.3885A>G (p.Gln1295=) rs779179754
NM_001329943.3(KIAA0586):c.3886G>A (p.Val1296Met)
NM_001329943.3(KIAA0586):c.3896T>C (p.Met1299Thr)
NM_001329943.3(KIAA0586):c.3917C>T (p.Ala1306Val) rs1369311999
NM_001329943.3(KIAA0586):c.3940A>C (p.Lys1314Gln) rs1270703288
NM_001329943.3(KIAA0586):c.3940A>G (p.Lys1314Glu)
NM_001329943.3(KIAA0586):c.3968A>G (p.Gln1323Arg)
NM_001329943.3(KIAA0586):c.3990G>A (p.Glu1330=)
NM_001329943.3(KIAA0586):c.3997G>A (p.Glu1333Lys)
NM_001329943.3(KIAA0586):c.4001A>G (p.Asn1334Ser)
NM_001329943.3(KIAA0586):c.4028A>G (p.Gln1343Arg)
NM_001329943.3(KIAA0586):c.4033C>A (p.Pro1345Thr)
NM_001329943.3(KIAA0586):c.4048G>A (p.Ala1350Thr)
NM_001329943.3(KIAA0586):c.4049C>A (p.Ala1350Glu)
NM_001329943.3(KIAA0586):c.4054G>A (p.Glu1352Lys)
NM_001329943.3(KIAA0586):c.4073A>G (p.His1358Arg) rs1260148388
NM_001329943.3(KIAA0586):c.4089G>C (p.Gln1363His) rs2043350107
NM_001329943.3(KIAA0586):c.4096G>A (p.Val1366Ile) rs2043350903
NM_001329943.3(KIAA0586):c.410+3A>G
NM_001329943.3(KIAA0586):c.411-1364A>G
NM_001329943.3(KIAA0586):c.411-1381C>T rs749413114
NM_001329943.3(KIAA0586):c.411-1404G>A
NM_001329943.3(KIAA0586):c.411-1405T>C
NM_001329943.3(KIAA0586):c.411-1409C>T rs2140521828
NM_001329943.3(KIAA0586):c.411-1427A>G
NM_001329943.3(KIAA0586):c.411-1431C>G
NM_001329943.3(KIAA0586):c.411-1448G>A
NM_001329943.3(KIAA0586):c.411-1494C>A
NM_001329943.3(KIAA0586):c.4111T>A (p.Ser1371Thr)
NM_001329943.3(KIAA0586):c.4148G>A (p.Arg1383Gln)
NM_001329943.3(KIAA0586):c.4156G>T (p.Asp1386Tyr) rs2141310739
NM_001329943.3(KIAA0586):c.4168+5A>G
NM_001329943.3(KIAA0586):c.4168+6C>T
NM_001329943.3(KIAA0586):c.4205C>A (p.Pro1402Gln)
NM_001329943.3(KIAA0586):c.421A>G (p.Met141Val) rs1164983892
NM_001329943.3(KIAA0586):c.4226A>G (p.Glu1409Gly) rs2141430559
NM_001329943.3(KIAA0586):c.4227G>T (p.Glu1409Asp) rs746899731
NM_001329943.3(KIAA0586):c.4231G>A (p.Glu1411Lys)
NM_001329943.3(KIAA0586):c.4241C>T (p.Ser1414Phe)
NM_001329943.3(KIAA0586):c.4249G>A (p.Val1417Ile) rs1356513118
NM_001329943.3(KIAA0586):c.4286A>G (p.Asp1429Gly) rs548063080
NM_001329943.3(KIAA0586):c.4306G>A (p.Ala1436Thr)
NM_001329943.3(KIAA0586):c.4316T>C (p.Phe1439Ser) rs2141431422
NM_001329943.3(KIAA0586):c.4323+3A>G
NM_001329943.3(KIAA0586):c.4323+4C>T rs2044176022
NM_001329943.3(KIAA0586):c.4323+5C>G rs2141431529
NM_001329943.3(KIAA0586):c.4324-4T>G rs1429230924
NM_001329943.3(KIAA0586):c.4345G>T (p.Asp1449Tyr)
NM_001329943.3(KIAA0586):c.4346A>T (p.Asp1449Val) rs2141479700
NM_001329943.3(KIAA0586):c.4352A>G (p.Lys1451Arg)
NM_001329943.3(KIAA0586):c.4363_4364delinsAT (p.His1455Ile) rs2141479904
NM_001329943.3(KIAA0586):c.4365C>G (p.His1455Gln) rs1051498929
NM_001329943.3(KIAA0586):c.4399A>C (p.Lys1467Gln)
NM_001329943.3(KIAA0586):c.4429+4A>G rs1017273332
NM_001329943.3(KIAA0586):c.4435C>T (p.Pro1479Ser)
NM_001329943.3(KIAA0586):c.4444A>G (p.Met1482Val)
NM_001329943.3(KIAA0586):c.4446G>A (p.Met1482Ile)
NM_001329943.3(KIAA0586):c.444G>T (p.Lys148Asn)
NM_001329943.3(KIAA0586):c.4458A>T (p.Gln1486His) rs2140098041
NM_001329943.3(KIAA0586):c.4472C>T (p.Pro1491Leu) rs370303493
NM_001329943.3(KIAA0586):c.4492T>A (p.Ser1498Thr)
NM_001329943.3(KIAA0586):c.4495+3762T>C
NM_001329943.3(KIAA0586):c.4495+3779A>G rs968172462
NM_001329943.3(KIAA0586):c.4495+3779A>T rs968172462
NM_001329943.3(KIAA0586):c.4495+3795_4495+3796inv
NM_001329943.3(KIAA0586):c.4495+3797T>C
NM_001329943.3(KIAA0586):c.4495+4A>G
NM_001329943.3(KIAA0586):c.4495+6A>G
NM_001329943.3(KIAA0586):c.4496-3814G>A rs2140128786
NM_001329943.3(KIAA0586):c.4496G>T (p.Gly1499Val)
NM_001329943.3(KIAA0586):c.4506A>G (p.Ala1502=)
NM_001329943.3(KIAA0586):c.4515C>G (p.Leu1505=) rs2140156234
NM_001329943.3(KIAA0586):c.4518C>T (p.Ser1506=)
NM_001329943.3(KIAA0586):c.4524A>G (p.Ser1508=)
NM_001329943.3(KIAA0586):c.4525C>G (p.Gln1509Glu)
NM_001329943.3(KIAA0586):c.4531C>A (p.Pro1511Thr) rs2140156359
NM_001329943.3(KIAA0586):c.4539C>G (p.Ala1513=)
NM_001329943.3(KIAA0586):c.4564G>C (p.Val1522Leu)
NM_001329943.3(KIAA0586):c.4564G>T (p.Val1522Leu) rs542432352
NM_001329943.3(KIAA0586):c.4575_4576delinsAC (p.Asp1526His) rs2140156856
NM_001329943.3(KIAA0586):c.4585C>T (p.Gln1529Ter)
NM_001329943.3(KIAA0586):c.4590T>G (p.Ser1530=) rs2140157005
NM_001329943.3(KIAA0586):c.4596T>C (p.Ser1532=)
NM_001329943.3(KIAA0586):c.4641C>T (p.Thr1547=) rs1301341396
NM_001329943.3(KIAA0586):c.4641del (p.Phe1548fs)
NM_001329943.3(KIAA0586):c.4644C>G (p.Phe1548Leu)
NM_001329943.3(KIAA0586):c.479A>G (p.Asp160Gly)
NM_001329943.3(KIAA0586):c.480T>A (p.Asp160Glu) rs1202184988
NM_001329943.3(KIAA0586):c.502A>G (p.Ile168Val)
NM_001329943.3(KIAA0586):c.508C>T (p.Pro170Ser)
NM_001329943.3(KIAA0586):c.524C>T (p.Ser175Leu)
NM_001329943.3(KIAA0586):c.575C>T (p.Pro192Leu) rs748340175
NM_001329943.3(KIAA0586):c.585+10_585+11insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATATTTTT
NM_001329943.3(KIAA0586):c.586G>T (p.Val196Leu)
NM_001329943.3(KIAA0586):c.602A>G (p.Glu201Gly) rs2038635110
NM_001329943.3(KIAA0586):c.605C>T (p.Ala202Val)
NM_001329943.3(KIAA0586):c.625G>C (p.Glu209Gln)
NM_001329943.3(KIAA0586):c.62T>A (p.Leu21His)
NM_001329943.3(KIAA0586):c.63_64delinsAA (p.Arg22Ser) rs2140373651
NM_001329943.3(KIAA0586):c.64C>T (p.Arg22Cys) rs202124602
NM_001329943.3(KIAA0586):c.655A>G (p.Lys219Glu) rs1373940232
NM_001329943.3(KIAA0586):c.658C>T (p.His220Tyr)
NM_001329943.3(KIAA0586):c.65G>C (p.Arg22Pro)
NM_001329943.3(KIAA0586):c.666A>G (p.Gln222=)
NM_001329943.3(KIAA0586):c.701A>G (p.Lys234Arg)
NM_001329943.3(KIAA0586):c.729C>G (p.His243Gln) rs774888789
NM_001329943.3(KIAA0586):c.745G>A (p.Val249Met) rs2140567428
NM_001329943.3(KIAA0586):c.768G>T (p.Arg256Ser)
NM_001329943.3(KIAA0586):c.784CAA[3] (p.Gln265del) rs1290912165
NM_001329943.3(KIAA0586):c.792A>T (p.Gln264His) rs2140568101
NM_001329943.3(KIAA0586):c.811C>A (p.His271Asn)
NM_001329943.3(KIAA0586):c.811C>T (p.His271Tyr) rs1417240682
NM_001329943.3(KIAA0586):c.815T>G (p.Phe272Cys) rs2039078597
NM_001329943.3(KIAA0586):c.82A>C (p.Asn28His)
NM_001329943.3(KIAA0586):c.832A>G (p.Lys278Glu) rs769369839
NM_001329943.3(KIAA0586):c.835A>C (p.Thr279Pro)
NM_001329943.3(KIAA0586):c.839G>C (p.Ser280Thr) rs2039080763
NM_001329943.3(KIAA0586):c.853G>C (p.Val285Leu)
NM_001329943.3(KIAA0586):c.857G>A (p.Ser286Asn)
NM_001329943.3(KIAA0586):c.859A>C (p.Met287Leu) rs2140662489
NM_001329943.3(KIAA0586):c.85C>T (p.His29Tyr)
NM_001329943.3(KIAA0586):c.869C>G (p.Ser290Cys)
NM_001329943.3(KIAA0586):c.86A>G (p.His29Arg)
NM_001329943.3(KIAA0586):c.913C>T (p.Leu305Phe)
NM_001329943.3(KIAA0586):c.919A>G (p.Ser307Gly) rs2140663692
NM_001329943.3(KIAA0586):c.953C>T (p.Ser318Phe) rs2140664162
NM_001329943.3(KIAA0586):c.961+6_961+7del rs1308763926
NM_001329943.3(KIAA0586):c.962-3A>C
NM_001329943.3(KIAA0586):c.976G>A (p.Val326Ile) rs1317366636
NM_001329943.3(KIAA0586):c.983A>T (p.Asp328Val) rs780810159

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