ClinVar Miner

List of variants in gene KIAA1549 studied for not provided

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Gene type:
ClinVar version:
Total variants: 1298
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HGVS dbSNP gnomAD frequency
NM_001164665.2(KIAA1549):c.3708G>T (p.Pro1236=) rs7802841 0.71421
NM_001164665.2(KIAA1549):c.2973C>T (p.Tyr991=) rs6969074 0.54454
NM_001164665.2(KIAA1549):c.1849A>G (p.Arg617Gly) rs2774962 0.52408
NM_001164665.2(KIAA1549):c.2546C>T (p.Ser849Leu) rs2251220 0.43675
NM_001164665.2(KIAA1549):c.1955C>T (p.Pro652Leu) rs2774960 0.41799
NM_001164665.2(KIAA1549):c.1456C>G (p.Pro486Ala) rs2718131 0.21208
NM_001164665.2(KIAA1549):c.5136C>T (p.Pro1712=) rs12707399 0.09704
NM_001164665.2(KIAA1549):c.2301T>C (p.Thr767=) rs61746879 0.08707
NM_001164665.2(KIAA1549):c.3036C>T (p.Ser1012=) rs16873582 0.08470
NM_001164665.2(KIAA1549):c.2800G>A (p.Asp934Asn) rs2150283 0.05297
NM_001164665.2(KIAA1549):c.2666G>T (p.Gly889Val) rs2354336 0.05287
NM_001164665.2(KIAA1549):c.1940C>G (p.Ser647Cys) rs61734132 0.05285
NM_001164665.2(KIAA1549):c.4033-11G>C rs10227679 0.04084
NM_001164665.2(KIAA1549):c.42G>A (p.Glu14=) rs536040543 0.02962
NM_001164665.2(KIAA1549):c.2799C>T (p.Val933=) rs61995719 0.02724
NM_001164665.2(KIAA1549):c.3461-15C>T rs117618554 0.02338
NM_001164665.2(KIAA1549):c.3195C>T (p.Thr1065=) rs10277735 0.01777
NM_001164665.2(KIAA1549):c.2523C>T (p.Asp841=) rs6962973 0.01475
NM_001164665.2(KIAA1549):c.958G>A (p.Asp320Asn) rs61978615 0.01092
NM_001164665.2(KIAA1549):c.3593A>G (p.Gln1198Arg) rs144488000 0.01007
NM_001164665.2(KIAA1549):c.875C>T (p.Pro292Leu) rs140890453 0.00764
NM_001164665.2(KIAA1549):c.4716C>T (p.Ile1572=) rs28523576 0.00683
NM_001164665.2(KIAA1549):c.1769C>T (p.Thr590Met) rs144262582 0.00620
NM_001164665.2(KIAA1549):c.658G>C (p.Ala220Pro) rs79731548 0.00602
NM_001164665.2(KIAA1549):c.4532G>C (p.Ser1511Thr) rs61744110 0.00589
NM_001164665.2(KIAA1549):c.4648G>A (p.Val1550Ile) rs116788555 0.00585
NM_001164665.2(KIAA1549):c.3052A>T (p.Ile1018Leu) rs185695096 0.00534
NM_001164665.2(KIAA1549):c.1399G>A (p.Val467Ile) rs61736034 0.00519
NM_001164665.2(KIAA1549):c.4930-14A>G rs80130913 0.00514
NM_001164665.2(KIAA1549):c.261C>T (p.His87=) rs141812444 0.00418
NM_001164665.2(KIAA1549):c.3453C>T (p.Ile1151=) rs61744112 0.00408
NM_001164665.2(KIAA1549):c.5662G>A (p.Gly1888Ser) rs115152294 0.00399
NM_001164665.2(KIAA1549):c.2770G>A (p.Val924Met) rs148827805 0.00397
NM_001164665.2(KIAA1549):c.4158G>A (p.Thr1386=) rs142709120 0.00351
NM_001164665.2(KIAA1549):c.5157C>T (p.Pro1719=) rs148849089 0.00307
NM_001164665.2(KIAA1549):c.1123A>G (p.Thr375Ala) rs144913038 0.00303
NM_001164665.2(KIAA1549):c.2713G>C (p.Ala905Pro) rs148007950 0.00295
NM_001164665.2(KIAA1549):c.130C>T (p.Leu44=) rs188225028 0.00291
NM_001164665.2(KIAA1549):c.2640C>T (p.Ser880=) rs115066019 0.00287
NM_001164665.2(KIAA1549):c.1656C>T (p.Ser552=) rs113045455 0.00233
NM_001164665.2(KIAA1549):c.4552-20dup rs536450000 0.00231
NM_001164665.2(KIAA1549):c.5186G>A (p.Arg1729Lys) rs60797311 0.00231
NM_001164665.2(KIAA1549):c.5520C>A (p.Ile1840=) rs372228871 0.00189
NM_001164665.2(KIAA1549):c.885C>T (p.Asp295=) rs79934303 0.00167
NM_001164665.2(KIAA1549):c.1155C>T (p.Ser385=) rs140043575 0.00157
NM_001164665.2(KIAA1549):c.2105T>A (p.Leu702Gln) rs141831128 0.00157
NM_001164665.2(KIAA1549):c.1802C>T (p.Ser601Leu) rs149565300 0.00132
NM_001164665.2(KIAA1549):c.1136C>G (p.Ser379Cys) rs149876667 0.00128
NM_001164665.2(KIAA1549):c.660G>A (p.Ala220=) rs77986377 0.00116
NM_001164665.2(KIAA1549):c.404C>A (p.Pro135His) rs79234060 0.00113
NM_001164665.2(KIAA1549):c.2689G>A (p.Asp897Asn) rs141705276 0.00112
NM_001164665.2(KIAA1549):c.1746C>T (p.Ala582=) rs148743027 0.00106
NM_001164665.2(KIAA1549):c.5228C>T (p.Thr1743Met) rs201514543 0.00105
NM_001164665.2(KIAA1549):c.4301C>T (p.Pro1434Leu) rs200150763 0.00100
NM_001164665.2(KIAA1549):c.3875C>T (p.Pro1292Leu) rs139052197 0.00099
NM_001164665.2(KIAA1549):c.1201G>A (p.Gly401Ser) rs151118504 0.00094
NM_001164665.2(KIAA1549):c.5261A>G (p.Tyr1754Cys) rs199604464 0.00091
NM_001164665.2(KIAA1549):c.3276+9A>G rs369690093 0.00088
NM_001164665.2(KIAA1549):c.2879-19G>T rs372555864 0.00087
NM_001164665.2(KIAA1549):c.4184G>A (p.Ser1395Asn) rs139412672 0.00086
NM_001164665.2(KIAA1549):c.2642C>T (p.Thr881Met) rs138709216 0.00081
NM_001164665.2(KIAA1549):c.2688C>T (p.Leu896=) rs144765229 0.00074
NM_001164665.2(KIAA1549):c.4164G>A (p.Ser1388=) rs183617317 0.00074
NM_001164665.2(KIAA1549):c.2761C>T (p.Leu921=) rs143475803 0.00073
NM_001164665.2(KIAA1549):c.692C>T (p.Thr231Ile) rs140350435 0.00073
NM_001164665.2(KIAA1549):c.819A>G (p.Leu273=) rs144704761 0.00073
NM_001164665.2(KIAA1549):c.2181C>T (p.Leu727=) rs201109912 0.00072
NM_001164665.2(KIAA1549):c.2710G>A (p.Ala904Thr) rs117908080 0.00070
NM_001164665.2(KIAA1549):c.4744G>A (p.Val1582Met) rs200964689 0.00070
NM_001164665.2(KIAA1549):c.3669+6C>T rs191565282 0.00060
NM_001164665.2(KIAA1549):c.3684G>A (p.Ser1228=) rs372805366 0.00058
NM_001164665.2(KIAA1549):c.4214T>C (p.Val1405Ala) rs555092681 0.00055
NM_001164665.2(KIAA1549):c.4743C>T (p.Ser1581=) rs372552870 0.00055
NM_001164665.2(KIAA1549):c.1854T>C (p.Gly618=) rs61732262 0.00053
NM_001164665.2(KIAA1549):c.5832C>T (p.Thr1944=) rs375087417 0.00053
NM_001164665.2(KIAA1549):c.5469C>T (p.His1823=) rs565452410 0.00048
NM_001164665.2(KIAA1549):c.899C>T (p.Pro300Leu) rs201014208 0.00047
NM_001164665.2(KIAA1549):c.3327G>A (p.Pro1109=) rs376796935 0.00045
NM_001164665.2(KIAA1549):c.2100C>T (p.Ser700=) rs3735012 0.00044
NM_001164665.2(KIAA1549):c.5453-13A>G rs368397855 0.00044
NM_001164665.2(KIAA1549):c.5513T>C (p.Val1838Ala) rs199665965 0.00044
NM_001164665.2(KIAA1549):c.598A>G (p.Met200Val) rs371772877 0.00041
NM_001164665.2(KIAA1549):c.1344C>T (p.Ala448=) rs183368912 0.00039
NM_001164665.2(KIAA1549):c.2857G>A (p.Asp953Asn) rs61734245 0.00039
NM_001164665.2(KIAA1549):c.5242T>G (p.Cys1748Gly) rs373630539 0.00035
NM_001164665.2(KIAA1549):c.4872C>T (p.Ser1624=) rs372640527 0.00034
NM_001164665.2(KIAA1549):c.2553T>G (p.Val851=) rs372811623 0.00033
NM_001164665.2(KIAA1549):c.4311C>T (p.Val1437=) rs745650437 0.00032
NM_001164665.2(KIAA1549):c.116G>A (p.Arg39His) rs867020397 0.00030
NM_001164665.2(KIAA1549):c.3771G>A (p.Ser1257=) rs368186139 0.00030
NM_001164665.2(KIAA1549):c.3275A>T (p.Gln1092Leu) rs201583319 0.00029
NM_001164665.2(KIAA1549):c.4229+16T>C rs371623703 0.00029
NM_001164665.2(KIAA1549):c.3199C>T (p.Arg1067Cys) rs376870832 0.00028
NM_001164665.2(KIAA1549):c.630G>A (p.Ser210=) rs372624833 0.00028
NM_001164665.2(KIAA1549):c.2314C>T (p.Pro772Ser) rs200244255 0.00026
NM_001164665.2(KIAA1549):c.3940G>A (p.Val1314Met) rs368652460 0.00026
NM_001164665.2(KIAA1549):c.5294+6G>A rs117006285 0.00025
NM_001164665.2(KIAA1549):c.2082G>A (p.Ser694=) rs146280134 0.00024
NM_001164665.2(KIAA1549):c.2195C>T (p.Ala732Val) rs375118283 0.00024
NM_001164665.2(KIAA1549):c.2382C>T (p.His794=) rs368858886 0.00024
NM_001164665.2(KIAA1549):c.4428G>A (p.Pro1476=) rs145725555 0.00024
NM_001164665.2(KIAA1549):c.627A>G (p.Thr209=) rs368226879 0.00024
NM_001164665.2(KIAA1549):c.1220A>G (p.His407Arg) rs375361081 0.00023
NM_001164665.2(KIAA1549):c.5312G>C (p.Gly1771Ala) rs200895778 0.00022
NM_001164665.2(KIAA1549):c.5699A>T (p.His1900Leu) rs146544027 0.00022
NM_001164665.2(KIAA1549):c.5121C>T (p.Thr1707=) rs371885622 0.00021
NM_001164665.2(KIAA1549):c.5279C>T (p.Thr1760Met) rs201894165 0.00021
NM_001164665.2(KIAA1549):c.5568C>T (p.Tyr1856=) rs370609747 0.00021
NM_001164665.2(KIAA1549):c.856C>T (p.Arg286Trp) rs546465395 0.00021
NM_001164665.2(KIAA1549):c.87C>T (p.Gly29=) rs906143559 0.00021
NM_001164665.2(KIAA1549):c.1401C>T (p.Val467=) rs370500022 0.00019
NM_001164665.2(KIAA1549):c.4842T>C (p.Ala1614=) rs373308664 0.00019
NM_001164665.2(KIAA1549):c.5717C>G (p.Pro1906Arg) rs199760888 0.00019
NM_001164665.2(KIAA1549):c.2525C>T (p.Ala842Val) rs202114551 0.00018
NM_001164665.2(KIAA1549):c.1652C>G (p.Ser551Cys) rs369401473 0.00016
NM_001164665.2(KIAA1549):c.4441C>T (p.Arg1481Trp) rs776449063 0.00016
NM_001164665.2(KIAA1549):c.5577C>T (p.Asp1859=) rs762072316 0.00016
NM_001164665.2(KIAA1549):c.5599-10T>C rs374886205 0.00016
NM_001164665.2(KIAA1549):c.650G>A (p.Arg217Gln) rs374819009 0.00016
NM_001164665.2(KIAA1549):c.2387C>T (p.Thr796Met) rs189823881 0.00015
NM_001164665.2(KIAA1549):c.2595C>T (p.Val865=) rs547681622 0.00015
NM_001164665.2(KIAA1549):c.4308C>T (p.Ala1436=) rs377359028 0.00015
NM_001164665.2(KIAA1549):c.931C>T (p.Pro311Ser) rs80222245 0.00015
NM_001164665.2(KIAA1549):c.1398C>T (p.Ser466=) rs572555872 0.00014
NM_001164665.2(KIAA1549):c.1595C>T (p.Ala532Val) rs199729909 0.00014
NM_001164665.2(KIAA1549):c.1739C>T (p.Ser580Leu) rs374265964 0.00014
NM_001164665.2(KIAA1549):c.3146T>A (p.Val1049Glu) rs200468254 0.00014
NM_001164665.2(KIAA1549):c.3388G>A (p.Glu1130Lys) rs563835891 0.00014
NM_001164665.2(KIAA1549):c.3957C>T (p.Leu1319=) rs779392132 0.00014
NM_001164665.2(KIAA1549):c.4365G>A (p.Ser1455=) rs565142164 0.00014
NM_001164665.2(KIAA1549):c.5008G>A (p.Ala1670Thr) rs372568067 0.00014
NM_001164665.2(KIAA1549):c.5253C>T (p.Tyr1751=) rs376589057 0.00013
NM_001164665.2(KIAA1549):c.5588G>A (p.Arg1863Gln) rs201508644 0.00013
NM_001164665.2(KIAA1549):c.63C>T (p.Val21=) rs1056751986 0.00013
NM_001164665.2(KIAA1549):c.3163C>T (p.Pro1055Ser) rs534004542 0.00012
NM_001164665.2(KIAA1549):c.4266A>G (p.Glu1422=) rs374513712 0.00012
NM_001164665.2(KIAA1549):c.1156G>A (p.Asp386Asn) rs566170382 0.00011
NM_001164665.2(KIAA1549):c.2716A>G (p.Ser906Gly) rs201853693 0.00011
NM_001164665.2(KIAA1549):c.2818A>G (p.Thr940Ala) rs200912083 0.00011
NM_001164665.2(KIAA1549):c.3740A>T (p.Asp1247Val) rs370733502 0.00011
NM_001164665.2(KIAA1549):c.4479G>A (p.Pro1493=) rs551844143 0.00011
NM_001164665.2(KIAA1549):c.4807C>T (p.Arg1603Trp) rs376775987 0.00011
NM_001164665.2(KIAA1549):c.5137G>A (p.Gly1713Arg) rs191771685 0.00011
NM_001164665.2(KIAA1549):c.5426G>A (p.Arg1809Gln) rs368163898 0.00011
NM_001164665.2(KIAA1549):c.829G>A (p.Val277Met) rs371968423 0.00011
NM_001164665.2(KIAA1549):c.297C>T (p.Pro99=) rs148061561 0.00010
NM_001164665.2(KIAA1549):c.4244A>G (p.Asp1415Gly) rs374468612 0.00010
NM_001164665.2(KIAA1549):c.4314C>T (p.Asn1438=) rs370231729 0.00010
NM_001164665.2(KIAA1549):c.5234A>G (p.Asn1745Ser) rs376508722 0.00010
NM_001164665.2(KIAA1549):c.1043C>T (p.Ser348Leu) rs376618613 0.00009
NM_001164665.2(KIAA1549):c.1233G>A (p.Pro411=) rs369482729 0.00009
NM_001164665.2(KIAA1549):c.1266G>A (p.Ala422=) rs377103292 0.00009
NM_001164665.2(KIAA1549):c.1592C>T (p.Pro531Leu) rs189593274 0.00009
NM_001164665.2(KIAA1549):c.1906G>A (p.Gly636Ser) rs756575861 0.00009
NM_001164665.2(KIAA1549):c.2214G>A (p.Thr738=) rs370783426 0.00009
NM_001164665.2(KIAA1549):c.3377C>T (p.Ser1126Leu) rs199547264 0.00009
NM_001164665.2(KIAA1549):c.3405G>C (p.Leu1135Phe) rs774563155 0.00009
NM_001164665.2(KIAA1549):c.3523C>G (p.Leu1175Val) rs766057548 0.00009
NM_001164665.2(KIAA1549):c.3570C>T (p.Ala1190=) rs368853660 0.00009
NM_001164665.2(KIAA1549):c.4154C>T (p.Thr1385Ile) rs377071564 0.00009
NM_001164665.2(KIAA1549):c.4370A>G (p.Asn1457Ser) rs200600633 0.00009
NM_001164665.2(KIAA1549):c.4482C>T (p.Ile1494=) rs370673449 0.00009
NM_001164665.2(KIAA1549):c.5076C>T (p.Asp1692=) rs768260879 0.00009
NM_001164665.2(KIAA1549):c.558C>T (p.Pro186=) rs768597905 0.00009
NM_001164665.2(KIAA1549):c.5833G>A (p.Val1945Met) rs370670659 0.00009
NM_001164665.2(KIAA1549):c.996C>T (p.Ser332=) rs539622888 0.00009
NM_001164665.2(KIAA1549):c.1593G>A (p.Pro531=) rs535056336 0.00008
NM_001164665.2(KIAA1549):c.1855G>A (p.Ala619Thr) rs1391910709 0.00008
NM_001164665.2(KIAA1549):c.2200A>G (p.Thr734Ala) rs370735796 0.00008
NM_001164665.2(KIAA1549):c.2292C>T (p.Ser764=) rs769555899 0.00008
NM_001164665.2(KIAA1549):c.2951G>A (p.Arg984His) rs778279675 0.00008
NM_001164665.2(KIAA1549):c.386C>T (p.Thr129Ile) rs201427037 0.00008
NM_001164665.2(KIAA1549):c.3985C>T (p.Leu1329=) rs767113485 0.00008
NM_001164665.2(KIAA1549):c.4230-11T>C rs528016022 0.00008
NM_001164665.2(KIAA1549):c.4404C>T (p.His1468=) rs543122883 0.00008
NM_001164665.2(KIAA1549):c.4775+18G>A rs372793233 0.00008
NM_001164665.2(KIAA1549):c.726C>T (p.Ile242=) rs752657504 0.00008
NM_001164665.2(KIAA1549):c.860C>G (p.Ser287Cys) rs369303006 0.00008
NM_001164665.2(KIAA1549):c.2137C>T (p.Arg713Cys) rs766782097 0.00007
NM_001164665.2(KIAA1549):c.2962C>T (p.Leu988=) rs376231988 0.00007
NM_001164665.2(KIAA1549):c.3115G>A (p.Val1039Met) rs780276189 0.00007
NM_001164665.2(KIAA1549):c.3928C>T (p.Leu1310=) rs377097891 0.00007
NM_001164665.2(KIAA1549):c.4033-9A>G rs774577473 0.00007
NM_001164665.2(KIAA1549):c.4098C>T (p.Asp1366=) rs528591379 0.00007
NM_001164665.2(KIAA1549):c.4213G>A (p.Val1405Ile) rs765766724 0.00007
NM_001164665.2(KIAA1549):c.4345+7G>A rs371434340 0.00007
NM_001164665.2(KIAA1549):c.4362T>C (p.Ser1454=) rs750667002 0.00007
NM_001164665.2(KIAA1549):c.4439G>A (p.Arg1480Gln) rs375098757 0.00007
NM_001164665.2(KIAA1549):c.4839C>T (p.Asp1613=) rs558880858 0.00007
NM_001164665.2(KIAA1549):c.5148C>T (p.Pro1716=) rs762223691 0.00007
NM_001164665.2(KIAA1549):c.1314G>A (p.Met438Ile) rs759007729 0.00006
NM_001164665.2(KIAA1549):c.1362C>T (p.Thr454=) rs367943588 0.00006
NM_001164665.2(KIAA1549):c.183C>T (p.Ala61=) rs1021898588 0.00006
NM_001164665.2(KIAA1549):c.1982A>T (p.Gln661Leu) rs375009657 0.00006
NM_001164665.2(KIAA1549):c.2196G>A (p.Ala732=) rs771197119 0.00006
NM_001164665.2(KIAA1549):c.235C>T (p.Leu79Phe) rs775923220 0.00006
NM_001164665.2(KIAA1549):c.2828C>T (p.Pro943Leu) rs374914142 0.00006
NM_001164665.2(KIAA1549):c.2968-9T>C rs761069492 0.00006
NM_001164665.2(KIAA1549):c.3164C>T (p.Pro1055Leu) rs368584498 0.00006
NM_001164665.2(KIAA1549):c.336G>A (p.Pro112=) rs573490426 0.00006
NM_001164665.2(KIAA1549):c.426C>T (p.Tyr142=) rs183634909 0.00006
NM_001164665.2(KIAA1549):c.4298C>T (p.Thr1433Met) rs141076075 0.00006
NM_001164665.2(KIAA1549):c.4367G>T (p.Gly1456Val) rs375185179 0.00006
NM_001164665.2(KIAA1549):c.5258A>T (p.Asp1753Val) rs369296872 0.00006
NM_001164665.2(KIAA1549):c.5402C>T (p.Ser1801Leu) rs749931272 0.00006
NM_001164665.2(KIAA1549):c.5509C>A (p.Pro1837Thr) rs369732459 0.00006
NM_001164665.2(KIAA1549):c.5590A>G (p.Arg1864Gly) rs377654979 0.00006
NM_001164665.2(KIAA1549):c.5631T>C (p.Ser1877=) rs780143018 0.00006
NM_001164665.2(KIAA1549):c.5701C>T (p.Arg1901Trp) rs372780314 0.00006
NM_001164665.2(KIAA1549):c.867G>A (p.Met289Ile) rs376472972 0.00006
NM_001164665.2(KIAA1549):c.1021A>G (p.Thr341Ala) rs370573254 0.00005
NM_001164665.2(KIAA1549):c.1325T>C (p.Val442Ala) rs754588582 0.00005
NM_001164665.2(KIAA1549):c.1477C>G (p.Leu493Val) rs537387549 0.00005
NM_001164665.2(KIAA1549):c.1543A>G (p.Ser515Gly) rs749802183 0.00005
NM_001164665.2(KIAA1549):c.1763T>G (p.Val588Gly) rs749161217 0.00005
NM_001164665.2(KIAA1549):c.1803A>C (p.Ser601=) rs766865954 0.00005
NM_001164665.2(KIAA1549):c.338C>T (p.Pro113Leu) rs373095200 0.00005
NM_001164665.2(KIAA1549):c.359C>A (p.Thr120Lys) rs764738621 0.00005
NM_001164665.2(KIAA1549):c.3848-21_3848-20del rs896360179 0.00005
NM_001164665.2(KIAA1549):c.4192T>A (p.Ser1398Thr) rs368895293 0.00005
NM_001164665.2(KIAA1549):c.4398C>T (p.Phe1466=) rs562894245 0.00005
NM_001164665.2(KIAA1549):c.4494C>T (p.Pro1498=) rs764543415 0.00005
NM_001164665.2(KIAA1549):c.4805G>A (p.Arg1602His) rs775488624 0.00005
NM_001164665.2(KIAA1549):c.5685C>T (p.Ser1895=) rs368209132 0.00005
NM_001164665.2(KIAA1549):c.5744C>T (p.Thr1915Met) rs374243471 0.00005
NM_001164665.2(KIAA1549):c.689A>C (p.His230Pro) rs377268089 0.00005
NM_001164665.2(KIAA1549):c.883G>A (p.Asp295Asn) rs753808111 0.00005
NM_001164665.2(KIAA1549):c.1059A>G (p.Ala353=) rs774795805 0.00004
NM_001164665.2(KIAA1549):c.1304C>T (p.Thr435Met) rs368659824 0.00004
NM_001164665.2(KIAA1549):c.1575C>T (p.His525=) rs767593887 0.00004
NM_001164665.2(KIAA1549):c.1696C>G (p.Leu566Val) rs144764234 0.00004
NM_001164665.2(KIAA1549):c.189T>A (p.Asp63Glu) rs375343699 0.00004
NM_001164665.2(KIAA1549):c.1920G>A (p.Ser640=) rs377365626 0.00004
NM_001164665.2(KIAA1549):c.1925C>T (p.Ser642Leu) rs563536889 0.00004
NM_001164665.2(KIAA1549):c.200C>T (p.Pro67Leu) rs762407683 0.00004
NM_001164665.2(KIAA1549):c.2432C>T (p.Pro811Leu) rs769266453 0.00004
NM_001164665.2(KIAA1549):c.2592C>T (p.Thr864=) rs771763355 0.00004
NM_001164665.2(KIAA1549):c.2596G>A (p.Val866Met) rs367579842 0.00004
NM_001164665.2(KIAA1549):c.2622G>A (p.Glu874=) rs200117856 0.00004
NM_001164665.2(KIAA1549):c.2702T>C (p.Met901Thr) rs186506715 0.00004
NM_001164665.2(KIAA1549):c.2712C>T (p.Ala904=) rs199967133 0.00004
NM_001164665.2(KIAA1549):c.2742T>C (p.Ala914=) rs749769056 0.00004
NM_001164665.2(KIAA1549):c.2743G>T (p.Ala915Ser) rs780665573 0.00004
NM_001164665.2(KIAA1549):c.2765G>A (p.Arg922His) rs762326899 0.00004
NM_001164665.2(KIAA1549):c.2829G>A (p.Pro943=) rs752132619 0.00004
NM_001164665.2(KIAA1549):c.2878+20C>T rs763273856 0.00004
NM_001164665.2(KIAA1549):c.291T>C (p.Thr97=) rs551046302 0.00004
NM_001164665.2(KIAA1549):c.3009C>T (p.Ser1003=) rs374262068 0.00004
NM_001164665.2(KIAA1549):c.3037G>A (p.Val1013Ile) rs762313878 0.00004
NM_001164665.2(KIAA1549):c.3344C>T (p.Ala1115Val) rs374288943 0.00004
NM_001164665.2(KIAA1549):c.3571G>A (p.Glu1191Lys) rs182282554 0.00004
NM_001164665.2(KIAA1549):c.368T>C (p.Phe123Ser) rs770597852 0.00004
NM_001164665.2(KIAA1549):c.3732G>A (p.Glu1244=) rs1044459213 0.00004
NM_001164665.2(KIAA1549):c.3783C>T (p.Asn1261=) rs375104518 0.00004
NM_001164665.2(KIAA1549):c.3834T>C (p.Gly1278=) rs185026022 0.00004
NM_001164665.2(KIAA1549):c.4025G>A (p.Arg1342His) rs371501280 0.00004
NM_001164665.2(KIAA1549):c.4032+5C>T rs373889793 0.00004
NM_001164665.2(KIAA1549):c.4125G>A (p.Ala1375=) rs377023001 0.00004
NM_001164665.2(KIAA1549):c.4157C>T (p.Thr1386Met) rs746712955 0.00004
NM_001164665.2(KIAA1549):c.4216C>T (p.Arg1406Cys) rs776957854 0.00004
NM_001164665.2(KIAA1549):c.4256C>T (p.Thr1419Met) rs371532655 0.00004
NM_001164665.2(KIAA1549):c.4292A>T (p.Asp1431Val) rs377594285 0.00004
NM_001164665.2(KIAA1549):c.4299G>A (p.Thr1433=) rs138549974 0.00004
NM_001164665.2(KIAA1549):c.438G>A (p.Thr146=) rs778022746 0.00004
NM_001164665.2(KIAA1549):c.4438C>T (p.Arg1480Trp) rs751853285 0.00004
NM_001164665.2(KIAA1549):c.4526C>T (p.Ala1509Val) rs770998536 0.00004
NM_001164665.2(KIAA1549):c.4614C>T (p.Arg1538=) rs373515937 0.00004
NM_001164665.2(KIAA1549):c.4673C>G (p.Thr1558Ser) rs775905372 0.00004
NM_001164665.2(KIAA1549):c.4708A>C (p.Met1570Leu) rs369609078 0.00004
NM_001164665.2(KIAA1549):c.4753G>A (p.Val1585Met) rs766001165 0.00004
NM_001164665.2(KIAA1549):c.4824C>T (p.Asn1608=) rs1057338725 0.00004
NM_001164665.2(KIAA1549):c.4836C>T (p.Ala1612=) rs752810128 0.00004
NM_001164665.2(KIAA1549):c.4896C>T (p.Pro1632=) rs773979108 0.00004
NM_001164665.2(KIAA1549):c.4900G>A (p.Val1634Ile) rs750742481 0.00004
NM_001164665.2(KIAA1549):c.4959G>A (p.Gln1653=) rs184005645 0.00004
NM_001164665.2(KIAA1549):c.5085T>C (p.Phe1695=) rs1009885317 0.00004
NM_001164665.2(KIAA1549):c.5569G>A (p.Gly1857Arg) rs377591352 0.00004
NM_001164665.2(KIAA1549):c.5598C>T (p.Ala1866=) rs1336694554 0.00004
NM_001164665.2(KIAA1549):c.5610C>T (p.Leu1870=) rs764234582 0.00004
NM_001164665.2(KIAA1549):c.5636C>T (p.Pro1879Leu) rs770391646 0.00004
NM_001164665.2(KIAA1549):c.577A>G (p.Met193Val) rs201399789 0.00004
NM_001164665.2(KIAA1549):c.647C>T (p.Thr216Met) rs145518942 0.00004
NM_001164665.2(KIAA1549):c.697C>T (p.Arg233Trp) rs369822469 0.00004
NM_001164665.2(KIAA1549):c.886G>A (p.Gly296Ser) rs756111934 0.00004
NM_001164665.2(KIAA1549):c.903G>A (p.Leu301=) rs759660071 0.00004
NM_001164665.2(KIAA1549):c.913G>T (p.Gly305Trp) rs761267287 0.00004
NM_001164665.2(KIAA1549):c.1098T>G (p.Leu366=) rs777566268 0.00003
NM_001164665.2(KIAA1549):c.1107G>A (p.Ala369=) rs370830770 0.00003
NM_001164665.2(KIAA1549):c.1173C>T (p.Ser391=) rs769166476 0.00003
NM_001164665.2(KIAA1549):c.1217C>T (p.Thr406Ile) rs757772617 0.00003
NM_001164665.2(KIAA1549):c.1232C>T (p.Pro411Leu) rs374082447 0.00003
NM_001164665.2(KIAA1549):c.1363G>A (p.Val455Met) rs778018617 0.00003
NM_001164665.2(KIAA1549):c.1527C>T (p.Ala509=) rs373138309 0.00003
NM_001164665.2(KIAA1549):c.1550C>A (p.Thr517Lys) rs780751915 0.00003
NM_001164665.2(KIAA1549):c.1701C>G (p.Asp567Glu) rs779927503 0.00003
NM_001164665.2(KIAA1549):c.1770G>A (p.Thr590=) rs371545926 0.00003
NM_001164665.2(KIAA1549):c.1822C>T (p.Arg608Cys) rs750757143 0.00003
NM_001164665.2(KIAA1549):c.2090A>G (p.Gln697Arg) rs1207692305 0.00003
NM_001164665.2(KIAA1549):c.2220A>G (p.Ser740=) rs547715850 0.00003
NM_001164665.2(KIAA1549):c.2419A>T (p.Thr807Ser) rs371582835 0.00003
NM_001164665.2(KIAA1549):c.2422C>G (p.Leu808Val) rs369452998 0.00003
NM_001164665.2(KIAA1549):c.2948A>G (p.Asn983Ser) rs748690147 0.00003
NM_001164665.2(KIAA1549):c.3019G>A (p.Val1007Ile) rs376801932 0.00003
NM_001164665.2(KIAA1549):c.3079A>G (p.Thr1027Ala) rs368169470 0.00003
NM_001164665.2(KIAA1549):c.309C>T (p.His103=) rs542413742 0.00003
NM_001164665.2(KIAA1549):c.3198G>T (p.Gln1066His) rs371131658 0.00003
NM_001164665.2(KIAA1549):c.3277-14C>G rs779242495 0.00003
NM_001164665.2(KIAA1549):c.3580C>T (p.Arg1194Cys) rs759929427 0.00003
NM_001164665.2(KIAA1549):c.3683C>T (p.Ser1228Leu) rs377196939 0.00003
NM_001164665.2(KIAA1549):c.3795C>G (p.Leu1265=) rs568706447 0.00003
NM_001164665.2(KIAA1549):c.3830A>G (p.Gln1277Arg) rs745883556 0.00003
NM_001164665.2(KIAA1549):c.405C>T (p.Pro135=) rs771954107 0.00003
NM_001164665.2(KIAA1549):c.4229+17C>T rs1414629765 0.00003
NM_001164665.2(KIAA1549):c.4242A>G (p.Ser1414=) rs1255408448 0.00003
NM_001164665.2(KIAA1549):c.4392C>T (p.Ser1464=) rs1810930325 0.00003
NM_001164665.2(KIAA1549):c.4467C>T (p.Ile1489=) rs558389108 0.00003
NM_001164665.2(KIAA1549):c.4568G>A (p.Arg1523Gln) rs780742461 0.00003
NM_001164665.2(KIAA1549):c.4626C>T (p.Arg1542=) rs577570180 0.00003
NM_001164665.2(KIAA1549):c.4897G>A (p.Gly1633Ser) rs369244498 0.00003
NM_001164665.2(KIAA1549):c.4932G>A (p.Ser1644=) rs764841633 0.00003
NM_001164665.2(KIAA1549):c.4963C>T (p.Pro1655Ser) rs769880542 0.00003
NM_001164665.2(KIAA1549):c.5006C>T (p.Pro1669Leu) rs750198727 0.00003
NM_001164665.2(KIAA1549):c.5097C>T (p.Ala1699=) rs781133155 0.00003
NM_001164665.2(KIAA1549):c.5197C>A (p.Gln1733Lys) rs572611406 0.00003
NM_001164665.2(KIAA1549):c.5583G>A (p.Ala1861=) rs762944250 0.00003
NM_001164665.2(KIAA1549):c.629C>T (p.Ser210Leu) rs749770202 0.00003
NM_001164665.2(KIAA1549):c.71C>T (p.Ala24Val) rs1814540873 0.00003
NM_001164665.2(KIAA1549):c.730C>G (p.Pro244Ala) rs759573104 0.00003
NM_001164665.2(KIAA1549):c.843T>A (p.Leu281=) rs751777187 0.00003
NM_001164665.2(KIAA1549):c.857G>A (p.Arg286Gln) rs577418835 0.00003
NM_001164665.2(KIAA1549):c.1023A>G (p.Thr341=) rs757135426 0.00002
NM_001164665.2(KIAA1549):c.1044G>A (p.Ser348=) rs757468687 0.00002
NM_001164665.2(KIAA1549):c.1106C>T (p.Ala369Val) rs755135715 0.00002
NM_001164665.2(KIAA1549):c.1215C>T (p.Asn405=) rs781146282 0.00002
NM_001164665.2(KIAA1549):c.1458C>T (p.Pro486=) rs773356951 0.00002
NM_001164665.2(KIAA1549):c.1523C>G (p.Ser508Cys) rs760971422 0.00002
NM_001164665.2(KIAA1549):c.1524T>C (p.Ser508=) rs376015144 0.00002
NM_001164665.2(KIAA1549):c.1736C>T (p.Pro579Leu) rs368176243 0.00002
NM_001164665.2(KIAA1549):c.1758G>A (p.Pro586=) rs751547233 0.00002
NM_001164665.2(KIAA1549):c.1767T>C (p.Phe589=) rs780080011 0.00002
NM_001164665.2(KIAA1549):c.1794G>A (p.Val598=) rs376038326 0.00002
NM_001164665.2(KIAA1549):c.1826C>G (p.Ser609Cys) rs1284648305 0.00002
NM_001164665.2(KIAA1549):c.1870T>C (p.Ser624Pro) rs1363778670 0.00002
NM_001164665.2(KIAA1549):c.1885A>G (p.Thr629Ala) rs576958226 0.00002
NM_001164665.2(KIAA1549):c.1893G>A (p.Pro631=) rs1331337813 0.00002
NM_001164665.2(KIAA1549):c.1912A>G (p.Ile638Val) rs367951483 0.00002
NM_001164665.2(KIAA1549):c.1963T>C (p.Leu655=) rs780177819 0.00002
NM_001164665.2(KIAA1549):c.2139T>C (p.Arg713=) rs1163889306 0.00002
NM_001164665.2(KIAA1549):c.2267A>G (p.Glu756Gly) rs1812363500 0.00002
NM_001164665.2(KIAA1549):c.237C>T (p.Leu79=) rs776230190 0.00002
NM_001164665.2(KIAA1549):c.2457C>T (p.Asp819=) rs746916296 0.00002
NM_001164665.2(KIAA1549):c.2494A>T (p.Ile832Phe) rs561146216 0.00002
NM_001164665.2(KIAA1549):c.2643G>A (p.Thr881=) rs754161697 0.00002
NM_001164665.2(KIAA1549):c.265G>A (p.Ala89Thr) rs766634159 0.00002
NM_001164665.2(KIAA1549):c.2727C>G (p.Pro909=) rs776428143 0.00002
NM_001164665.2(KIAA1549):c.3129G>A (p.Arg1043=) rs756306646 0.00002
NM_001164665.2(KIAA1549):c.315T>C (p.Ser105=) rs770477212 0.00002
NM_001164665.2(KIAA1549):c.3188A>G (p.Asn1063Ser) rs199814331 0.00002
NM_001164665.2(KIAA1549):c.3247C>T (p.His1083Tyr) rs768385516 0.00002
NM_001164665.2(KIAA1549):c.3320G>A (p.Arg1107Gln) rs769622475 0.00002
NM_001164665.2(KIAA1549):c.3520+15T>C rs772852094 0.00002
NM_001164665.2(KIAA1549):c.3594G>T (p.Gln1198His) rs773567342 0.00002
NM_001164665.2(KIAA1549):c.360A>G (p.Thr120=) rs763587460 0.00002
NM_001164665.2(KIAA1549):c.3847+14G>T rs758641716 0.00002
NM_001164665.2(KIAA1549):c.3922C>T (p.Pro1308Ser) rs369470245 0.00002
NM_001164665.2(KIAA1549):c.3951C>T (p.Val1317=) rs772442257 0.00002
NM_001164665.2(KIAA1549):c.3973C>T (p.Arg1325Cys) rs779518864 0.00002
NM_001164665.2(KIAA1549):c.3998C>T (p.Pro1333Leu) rs751457130 0.00002
NM_001164665.2(KIAA1549):c.4131G>A (p.Leu1377=) rs372751840 0.00002
NM_001164665.2(KIAA1549):c.4195A>G (p.Lys1399Glu) rs1321362337 0.00002
NM_001164665.2(KIAA1549):c.4285G>A (p.Ala1429Thr) rs370611779 0.00002
NM_001164665.2(KIAA1549):c.4372G>A (p.Glu1458Lys) rs781740183 0.00002
NM_001164665.2(KIAA1549):c.4491T>C (p.Pro1497=) rs748537234 0.00002
NM_001164665.2(KIAA1549):c.4515C>T (p.Ala1505=) rs376635509 0.00002
NM_001164665.2(KIAA1549):c.454G>A (p.Val152Ile) rs765692579 0.00002
NM_001164665.2(KIAA1549):c.4592A>G (p.His1531Arg) rs777591312 0.00002
NM_001164665.2(KIAA1549):c.4606C>T (p.Arg1536Cys) rs766618778 0.00002
NM_001164665.2(KIAA1549):c.4653C>T (p.Asp1551=) rs575482000 0.00002
NM_001164665.2(KIAA1549):c.4669G>A (p.Asp1557Asn) rs566691710 0.00002
NM_001164665.2(KIAA1549):c.4717G>A (p.Asp1573Asn) rs757490511 0.00002
NM_001164665.2(KIAA1549):c.4799A>G (p.Lys1600Arg) rs1023696884 0.00002
NM_001164665.2(KIAA1549):c.4852C>T (p.Arg1618Trp) rs769771844 0.00002
NM_001164665.2(KIAA1549):c.499A>G (p.Thr167Ala) rs537853829 0.00002
NM_001164665.2(KIAA1549):c.5040C>T (p.Ile1680=) rs759077852 0.00002
NM_001164665.2(KIAA1549):c.5191G>C (p.Ala1731Pro) rs145489214 0.00002
NM_001164665.2(KIAA1549):c.5247+15T>C rs545570868 0.00002
NM_001164665.2(KIAA1549):c.536C>G (p.Thr179Arg) rs771595820 0.00002
NM_001164665.2(KIAA1549):c.543C>T (p.Ser181=) rs754186597 0.00002
NM_001164665.2(KIAA1549):c.5488G>A (p.Ala1830Thr) rs772340167 0.00002
NM_001164665.2(KIAA1549):c.5578G>A (p.Glu1860Lys) rs373881826 0.00002
NM_001164665.2(KIAA1549):c.5582C>T (p.Ala1861Val) rs534527332 0.00002
NM_001164665.2(KIAA1549):c.5599-19C>T rs551568744 0.00002
NM_001164665.2(KIAA1549):c.5664C>G (p.Gly1888=) rs747394542 0.00002
NM_001164665.2(KIAA1549):c.567A>G (p.Ala189=) rs1475758624 0.00002
NM_001164665.2(KIAA1549):c.5775C>T (p.Ala1925=) rs367742461 0.00002
NM_001164665.2(KIAA1549):c.5819A>G (p.Gln1940Arg) rs201971121 0.00002
NM_001164665.2(KIAA1549):c.619G>C (p.Glu207Gln) rs747558389 0.00002
NM_001164665.2(KIAA1549):c.659C>T (p.Ala220Val) rs1040243371 0.00002
NM_001164665.2(KIAA1549):c.1070C>A (p.Thr357Lys) rs117227363 0.00001
NM_001164665.2(KIAA1549):c.1127A>G (p.Asp376Gly) rs1257359843 0.00001
NM_001164665.2(KIAA1549):c.1168A>T (p.Thr390Ser) rs949757161 0.00001
NM_001164665.2(KIAA1549):c.1198C>T (p.Pro400Ser) rs949215134 0.00001
NM_001164665.2(KIAA1549):c.1238C>T (p.Ser413Phe) rs1017830269 0.00001
NM_001164665.2(KIAA1549):c.1265C>T (p.Ala422Val) rs776144844 0.00001
NM_001164665.2(KIAA1549):c.1268C>G (p.Ala423Gly) rs760600723 0.00001
NM_001164665.2(KIAA1549):c.1289A>T (p.Gln430Leu) rs770001154 0.00001
NM_001164665.2(KIAA1549):c.1302C>T (p.Ala434=) rs372588818 0.00001
NM_001164665.2(KIAA1549):c.1312A>G (p.Met438Val) rs778467957 0.00001
NM_001164665.2(KIAA1549):c.1323C>T (p.Asp441=) rs568574494 0.00001
NM_001164665.2(KIAA1549):c.1345G>A (p.Glu449Lys) rs746094701 0.00001
NM_001164665.2(KIAA1549):c.1402G>A (p.Val468Ile) rs545645203 0.00001
NM_001164665.2(KIAA1549):c.1418A>G (p.Glu473Gly) rs1276774049 0.00001
NM_001164665.2(KIAA1549):c.1448C>T (p.Thr483Met) rs763932528 0.00001
NM_001164665.2(KIAA1549):c.1492A>G (p.Met498Val) rs373028258 0.00001
NM_001164665.2(KIAA1549):c.1494G>A (p.Met498Ile) rs750143457 0.00001
NM_001164665.2(KIAA1549):c.1559A>T (p.Gln520Leu) rs1033378020 0.00001
NM_001164665.2(KIAA1549):c.1564C>A (p.Pro522Thr) rs759452417 0.00001
NM_001164665.2(KIAA1549):c.1591C>T (p.Pro531Ser) rs770435815 0.00001
NM_001164665.2(KIAA1549):c.1596G>A (p.Ala532=) rs376964458 0.00001
NM_001164665.2(KIAA1549):c.1646C>T (p.Thr549Met) rs764137081 0.00001
NM_001164665.2(KIAA1549):c.1653C>A (p.Ser551=) rs1286883199 0.00001
NM_001164665.2(KIAA1549):c.1676C>T (p.Ser559Leu) rs1435117068 0.00001
NM_001164665.2(KIAA1549):c.1705T>C (p.Ser569Pro) rs751701887 0.00001
NM_001164665.2(KIAA1549):c.1737G>A (p.Pro579=) rs570277151 0.00001
NM_001164665.2(KIAA1549):c.1740G>A (p.Ser580=) rs185123082 0.00001
NM_001164665.2(KIAA1549):c.1757C>T (p.Pro586Leu) rs777901817 0.00001
NM_001164665.2(KIAA1549):c.1759A>G (p.Ser587Gly) rs552493889 0.00001
NM_001164665.2(KIAA1549):c.1791A>G (p.Ser597=) rs752987108 0.00001
NM_001164665.2(KIAA1549):c.187+9C>T rs1242751857 0.00001
NM_001164665.2(KIAA1549):c.1889C>T (p.Pro630Leu) rs758892072 0.00001
NM_001164665.2(KIAA1549):c.1892C>T (p.Pro631Leu) rs753905366 0.00001
NM_001164665.2(KIAA1549):c.1905C>T (p.Ser635=) rs780011710 0.00001
NM_001164665.2(KIAA1549):c.1907G>A (p.Gly636Asp) rs1255883365 0.00001
NM_001164665.2(KIAA1549):c.1933C>T (p.Pro645Ser) rs959892003 0.00001
NM_001164665.2(KIAA1549):c.1977A>G (p.Thr659=) rs751918568 0.00001
NM_001164665.2(KIAA1549):c.2013A>G (p.Thr671=) rs751963902 0.00001
NM_001164665.2(KIAA1549):c.201G>A (p.Pro67=) rs533338378 0.00001
NM_001164665.2(KIAA1549):c.2073T>G (p.Leu691=) rs772991700 0.00001
NM_001164665.2(KIAA1549):c.2081C>T (p.Ser694Leu) rs749512218 0.00001
NM_001164665.2(KIAA1549):c.2088C>G (p.Leu696=) rs375195157 0.00001
NM_001164665.2(KIAA1549):c.2101G>A (p.Glu701Lys) rs997771011 0.00001
NM_001164665.2(KIAA1549):c.2122A>G (p.Met708Val) rs1308287799 0.00001
NM_001164665.2(KIAA1549):c.2148G>T (p.Val716=) rs753283721 0.00001
NM_001164665.2(KIAA1549):c.2201C>T (p.Thr734Met) rs952569464 0.00001
NM_001164665.2(KIAA1549):c.2202G>A (p.Thr734=) rs772661539 0.00001
NM_001164665.2(KIAA1549):c.2213C>T (p.Thr738Met) rs779260078 0.00001
NM_001164665.2(KIAA1549):c.2255C>T (p.Thr752Ile) rs767309794 0.00001
NM_001164665.2(KIAA1549):c.229A>G (p.Met77Val) rs1215112744 0.00001
NM_001164665.2(KIAA1549):c.2305C>T (p.Leu769=) rs773360115 0.00001
NM_001164665.2(KIAA1549):c.2339T>C (p.Leu780Ser) rs755814342 0.00001
NM_001164665.2(KIAA1549):c.2346C>T (p.Ala782=) rs551976861 0.00001
NM_001164665.2(KIAA1549):c.2371A>G (p.Thr791Ala) rs751606674 0.00001
NM_001164665.2(KIAA1549):c.238G>A (p.Val80Met) rs1449932411 0.00001
NM_001164665.2(KIAA1549):c.23G>C (p.Arg8Pro) rs1814543677 0.00001
NM_001164665.2(KIAA1549):c.2410T>C (p.Leu804=) rs1812357461 0.00001
NM_001164665.2(KIAA1549):c.2463C>T (p.His821=) rs953876043 0.00001
NM_001164665.2(KIAA1549):c.2512T>G (p.Leu838Val) rs572342171 0.00001
NM_001164665.2(KIAA1549):c.2526G>A (p.Ala842=) rs757485290 0.00001
NM_001164665.2(KIAA1549):c.2535A>G (p.Pro845=) rs753299249 0.00001
NM_001164665.2(KIAA1549):c.253A>T (p.Thr85Ser) rs780786909 0.00001
NM_001164665.2(KIAA1549):c.255T>C (p.Thr85=) rs373245068 0.00001
NM_001164665.2(KIAA1549):c.2567C>A (p.Pro856His) rs760405182 0.00001
NM_001164665.2(KIAA1549):c.2602C>G (p.Pro868Ala) rs370498848 0.00001
NM_001164665.2(KIAA1549):c.264C>T (p.Ser88=) rs758254683 0.00001
NM_001164665.2(KIAA1549):c.2656A>G (p.Thr886Ala) rs939857891 0.00001
NM_001164665.2(KIAA1549):c.2678G>T (p.Gly893Val) rs563358033 0.00001
NM_001164665.2(KIAA1549):c.2725C>T (p.Pro909Ser) rs775449098 0.00001
NM_001164665.2(KIAA1549):c.2733G>A (p.Glu911=) rs373323741 0.00001
NM_001164665.2(KIAA1549):c.2826G>A (p.Lys942=) rs777240021 0.00001
NM_001164665.2(KIAA1549):c.2836G>T (p.Val946Phe) rs1050854391 0.00001
NM_001164665.2(KIAA1549):c.2907C>T (p.Tyr969=) rs554031248 0.00001
NM_001164665.2(KIAA1549):c.2950C>T (p.Arg984Cys) rs779620701 0.00001
NM_001164665.2(KIAA1549):c.2958G>A (p.Val986=) rs1034441767 0.00001
NM_001164665.2(KIAA1549):c.2967+8C>T rs1180483117 0.00001
NM_001164665.2(KIAA1549):c.2974G>A (p.Glu992Lys) rs377080144 0.00001
NM_001164665.2(KIAA1549):c.3006A>G (p.Thr1002=) rs755689944 0.00001
NM_001164665.2(KIAA1549):c.3070C>T (p.Arg1024Cys) rs745323375 0.00001
NM_001164665.2(KIAA1549):c.317C>T (p.Pro106Leu) rs777742105 0.00001
NM_001164665.2(KIAA1549):c.3228C>G (p.Leu1076=) rs760217499 0.00001
NM_001164665.2(KIAA1549):c.3237G>A (p.Val1079=) rs773811464 0.00001
NM_001164665.2(KIAA1549):c.3286A>G (p.Ile1096Val) rs954626846 0.00001
NM_001164665.2(KIAA1549):c.3292A>G (p.Ile1098Val) rs1370495815 0.00001
NM_001164665.2(KIAA1549):c.332C>A (p.Ala111Asp) rs778707938 0.00001
NM_001164665.2(KIAA1549):c.3357A>G (p.Thr1119=) rs1256515937 0.00001
NM_001164665.2(KIAA1549):c.3378G>A (p.Ser1126=) rs374799059 0.00001
NM_001164665.2(KIAA1549):c.3381A>G (p.Glu1127=) rs752668097 0.00001
NM_001164665.2(KIAA1549):c.3387C>T (p.Ser1129=) rs373877771 0.00001
NM_001164665.2(KIAA1549):c.3406A>G (p.Ser1136Gly) rs543944276 0.00001
NM_001164665.2(KIAA1549):c.3450G>C (p.Gln1150His) rs377434618 0.00001
NM_001164665.2(KIAA1549):c.3498G>A (p.Leu1166=) rs1206032145 0.00001
NM_001164665.2(KIAA1549):c.3520+16G>A rs1489934148 0.00001
NM_001164665.2(KIAA1549):c.3539A>C (p.Glu1180Ala) rs764356219 0.00001
NM_001164665.2(KIAA1549):c.356A>C (p.Asp119Ala) rs1563078315 0.00001
NM_001164665.2(KIAA1549):c.358A>G (p.Thr120Ala) rs751988712 0.00001
NM_001164665.2(KIAA1549):c.3640A>G (p.Thr1214Ala) rs752173419 0.00001
NM_001164665.2(KIAA1549):c.3670-5T>C rs1239905982 0.00001
NM_001164665.2(KIAA1549):c.3707C>T (p.Pro1236Leu) rs367571312 0.00001
NM_001164665.2(KIAA1549):c.374A>G (p.Gln125Arg) rs765709005 0.00001
NM_001164665.2(KIAA1549):c.3793C>G (p.Leu1265Val) rs746975099 0.00001
NM_001164665.2(KIAA1549):c.3843C>G (p.Ala1281=) rs532278616 0.00001
NM_001164665.2(KIAA1549):c.3848-14T>A rs372708101 0.00001
NM_001164665.2(KIAA1549):c.3870G>A (p.Pro1290=) rs1389609981 0.00001
NM_001164665.2(KIAA1549):c.3890A>G (p.Asn1297Ser) rs904843871 0.00001
NM_001164665.2(KIAA1549):c.3904A>G (p.Ile1302Val) rs566560350 0.00001
NM_001164665.2(KIAA1549):c.3913G>A (p.Val1305Met) rs373413285 0.00001
NM_001164665.2(KIAA1549):c.3952A>G (p.Ile1318Val) rs748711231 0.00001
NM_001164665.2(KIAA1549):c.3966A>G (p.Lys1322=) rs1262887211 0.00001
NM_001164665.2(KIAA1549):c.3969A>G (p.Leu1323=) rs535270038 0.00001
NM_001164665.2(KIAA1549):c.3974G>A (p.Arg1325His) rs986194090 0.00001
NM_001164665.2(KIAA1549):c.3981C>T (p.Asp1327=) rs755796080 0.00001
NM_001164665.2(KIAA1549):c.4032+6G>A rs370789874 0.00001
NM_001164665.2(KIAA1549):c.4033-19G>A rs558572322 0.00001
NM_001164665.2(KIAA1549):c.406A>G (p.Ser136Gly) rs748103024 0.00001
NM_001164665.2(KIAA1549):c.4104A>T (p.Ile1368=) rs1365618145 0.00001
NM_001164665.2(KIAA1549):c.4124C>T (p.Ala1375Val) rs762192541 0.00001
NM_001164665.2(KIAA1549):c.4148A>T (p.Asp1383Val) rs770213038 0.00001
NM_001164665.2(KIAA1549):c.4155C>T (p.Thr1385=) rs770557711 0.00001
NM_001164665.2(KIAA1549):c.4163C>T (p.Ser1388Leu) rs1419586011 0.00001
NM_001164665.2(KIAA1549):c.418G>A (p.Ala140Thr) rs1316064182 0.00001
NM_001164665.2(KIAA1549):c.4208A>G (p.Lys1403Arg) rs752720614 0.00001
NM_001164665.2(KIAA1549):c.4210A>C (p.Asn1404His) rs1220003118 0.00001
NM_001164665.2(KIAA1549):c.4275C>T (p.Ser1425=) rs752751300 0.00001
NM_001164665.2(KIAA1549):c.4284C>T (p.Asp1428=) rs1344695964 0.00001
NM_001164665.2(KIAA1549):c.4330A>G (p.Arg1444Gly) rs779226827 0.00001
NM_001164665.2(KIAA1549):c.4337C>T (p.Pro1446Leu) rs767585578 0.00001
NM_001164665.2(KIAA1549):c.4364C>T (p.Ser1455Leu) rs368254955 0.00001
NM_001164665.2(KIAA1549):c.4378C>T (p.His1460Tyr) rs908169146 0.00001
NM_001164665.2(KIAA1549):c.4379A>T (p.His1460Leu) rs372285192 0.00001
NM_001164665.2(KIAA1549):c.4385C>T (p.Ser1462Leu) rs752229213 0.00001
NM_001164665.2(KIAA1549):c.4405G>A (p.Val1469Met) rs770912507 0.00001
NM_001164665.2(KIAA1549):c.4421G>A (p.Arg1474His) rs749561002 0.00001
NM_001164665.2(KIAA1549):c.4442G>A (p.Arg1481Gln) rs866370222 0.00001
NM_001164665.2(KIAA1549):c.4478C>T (p.Pro1493Leu) rs770070506 0.00001
NM_001164665.2(KIAA1549):c.4502G>A (p.Arg1501His) rs750321409 0.00001
NM_001164665.2(KIAA1549):c.4510C>T (p.Pro1504Ser) rs555764778 0.00001
NM_001164665.2(KIAA1549):c.4527G>A (p.Ala1509=) rs747104568 0.00001
NM_001164665.2(KIAA1549):c.453C>T (p.Ala151=) rs753259423 0.00001
NM_001164665.2(KIAA1549):c.4552-10C>A rs748715293 0.00001
NM_001164665.2(KIAA1549):c.4562C>T (p.Ala1521Val) rs749638172 0.00001
NM_001164665.2(KIAA1549):c.4567C>T (p.Arg1523Trp) rs745381545 0.00001
NM_001164665.2(KIAA1549):c.4569G>A (p.Arg1523=) rs757150961 0.00001
NM_001164665.2(KIAA1549):c.4584C>T (p.Ile1528=) rs751453388 0.00001
NM_001164665.2(KIAA1549):c.4609C>T (p.Leu1537=) rs1380448025 0.00001
NM_001164665.2(KIAA1549):c.4619A>G (p.Lys1540Arg) rs376555455 0.00001
NM_001164665.2(KIAA1549):c.4627G>A (p.Gly1543Arg) rs780850827 0.00001
NM_001164665.2(KIAA1549):c.4632C>T (p.His1544=) rs368842643 0.00001
NM_001164665.2(KIAA1549):c.4635C>T (p.Tyr1545=) rs746511422 0.00001
NM_001164665.2(KIAA1549):c.4636G>A (p.Glu1546Lys) rs777698134 0.00001
NM_001164665.2(KIAA1549):c.463G>A (p.Asp155Asn) rs1039059048 0.00001
NM_001164665.2(KIAA1549):c.4650A>G (p.Val1550=) rs750634364 0.00001
NM_001164665.2(KIAA1549):c.4652A>G (p.Asp1551Gly) rs988555427 0.00001
NM_001164665.2(KIAA1549):c.4687C>T (p.Arg1563Trp) rs770572143 0.00001
NM_001164665.2(KIAA1549):c.4746G>A (p.Val1582=) rs759826074 0.00001
NM_001164665.2(KIAA1549):c.4752C>T (p.Ser1584=) rs1026839471 0.00001
NM_001164665.2(KIAA1549):c.475A>G (p.Asn159Asp) rs761737159 0.00001
NM_001164665.2(KIAA1549):c.4775+17C>T rs905757596 0.00001
NM_001164665.2(KIAA1549):c.4793C>G (p.Ser1598Cys) rs1280447639 0.00001
NM_001164665.2(KIAA1549):c.4884C>T (p.Tyr1628=) rs1458530542 0.00001
NM_001164665.2(KIAA1549):c.4921G>A (p.Gly1641Arg) rs770015513 0.00001
NM_001164665.2(KIAA1549):c.4929+12C>T rs765070644 0.00001
NM_001164665.2(KIAA1549):c.4929+19A>G rs766121846 0.00001
NM_001164665.2(KIAA1549):c.4951G>A (p.Asp1651Asn) rs551170524 0.00001
NM_001164665.2(KIAA1549):c.5007G>A (p.Pro1669=) rs767343156 0.00001
NM_001164665.2(KIAA1549):c.5012C>T (p.Ser1671Phe) rs914714655 0.00001
NM_001164665.2(KIAA1549):c.5034G>A (p.Pro1678=) rs878930737 0.00001
NM_001164665.2(KIAA1549):c.5119A>G (p.Thr1707Ala) rs1275341667 0.00001
NM_001164665.2(KIAA1549):c.5123C>T (p.Ala1708Val) rs1810564621 0.00001
NM_001164665.2(KIAA1549):c.5133C>T (p.Gly1711=) rs766525015 0.00001
NM_001164665.2(KIAA1549):c.5158G>A (p.Ala1720Thr) rs748987822 0.00001
NM_001164665.2(KIAA1549):c.5229G>A (p.Thr1743=) rs933271585 0.00001
NM_001164665.2(KIAA1549):c.5248-3C>T rs1232105574 0.00001
NM_001164665.2(KIAA1549):c.5276C>T (p.Pro1759Leu) rs756471211 0.00001
NM_001164665.2(KIAA1549):c.5290C>T (p.Pro1764Ser) rs764663624 0.00001
NM_001164665.2(KIAA1549):c.5294+3A>C rs763241142 0.00001
NM_001164665.2(KIAA1549):c.5353C>G (p.Gln1785Glu) rs772102879 0.00001
NM_001164665.2(KIAA1549):c.5370C>T (p.Ala1790=) rs747050979 0.00001
NM_001164665.2(KIAA1549):c.5385T>C (p.Ala1795=) rs753165164 0.00001
NM_001164665.2(KIAA1549):c.5412G>A (p.Met1804Ile) rs1276097408 0.00001
NM_001164665.2(KIAA1549):c.5447C>A (p.Thr1816Asn) rs1221915922 0.00001
NM_001164665.2(KIAA1549):c.5467C>T (p.His1823Tyr) rs755108382 0.00001
NM_001164665.2(KIAA1549):c.5503G>C (p.Ala1835Pro) rs748223745 0.00001
NM_001164665.2(KIAA1549):c.5550G>A (p.Gly1850=) rs757881671 0.00001
NM_001164665.2(KIAA1549):c.5565G>A (p.Ser1855=) rs765103445 0.00001
NM_001164665.2(KIAA1549):c.5603A>G (p.His1868Arg) rs1404433735 0.00001
NM_001164665.2(KIAA1549):c.560G>A (p.Arg187Lys) rs762823216 0.00001
NM_001164665.2(KIAA1549):c.565G>A (p.Ala189Thr) rs1812454637 0.00001
NM_001164665.2(KIAA1549):c.5686G>A (p.Gly1896Arg) rs778336268 0.00001
NM_001164665.2(KIAA1549):c.5698C>T (p.His1900Tyr) rs573970210 0.00001
NM_001164665.2(KIAA1549):c.5709G>T (p.Leu1903=) rs1809793044 0.00001
NM_001164665.2(KIAA1549):c.5745G>A (p.Thr1915=) rs370194290 0.00001
NM_001164665.2(KIAA1549):c.5772G>A (p.Ser1924=) rs748810208 0.00001
NM_001164665.2(KIAA1549):c.5794C>T (p.Arg1932Cys) rs959724135 0.00001
NM_001164665.2(KIAA1549):c.5796C>T (p.Arg1932=) rs577677915 0.00001
NM_001164665.2(KIAA1549):c.5815T>G (p.Ser1939Ala) rs557851564 0.00001
NM_001164665.2(KIAA1549):c.675C>T (p.Ser225=) rs759452499 0.00001
NM_001164665.2(KIAA1549):c.739G>A (p.Gly247Ser) rs963558781 0.00001
NM_001164665.2(KIAA1549):c.778C>A (p.His260Asn) rs770237102 0.00001
NM_001164665.2(KIAA1549):c.799C>T (p.Pro267Ser) rs746657582 0.00001
NM_001164665.2(KIAA1549):c.815C>G (p.Ser272Cys) rs1024678845 0.00001
NM_001164665.2(KIAA1549):c.850A>G (p.Ser284Gly) rs764185862 0.00001
NM_001164665.2(KIAA1549):c.876G>A (p.Pro292=) rs574932009 0.00001
NM_001164665.2(KIAA1549):c.882C>T (p.Gly294=) rs368485537 0.00001
NM_001164665.2(KIAA1549):c.93G>T (p.Arg31=) rs931505462 0.00001
NM_001164665.2(KIAA1549):c.949A>G (p.Thr317Ala) rs1341082936 0.00001
NC_000007.13:g.(?_138536949)_(138537035_?)del
NC_000007.13:g.(?_138588314)_(138597226_?)del
NM_001164665.2(KIAA1549):c.-12_9del (p.Met1_Gly3del)
NM_001164665.2(KIAA1549):c.1001A>C (p.Glu334Ala) rs1812430091
NM_001164665.2(KIAA1549):c.1002A>G (p.Glu334=)
NM_001164665.2(KIAA1549):c.1028C>G (p.Pro343Arg) rs1812428962
NM_001164665.2(KIAA1549):c.102C>T (p.Ala34=) rs2130587582
NM_001164665.2(KIAA1549):c.1032T>C (p.Thr344=) rs1812428766
NM_001164665.2(KIAA1549):c.103C>T (p.Arg35Cys)
NM_001164665.2(KIAA1549):c.1059A>C (p.Ala353=)
NM_001164665.2(KIAA1549):c.1059A>T (p.Ala353=) rs774795805
NM_001164665.2(KIAA1549):c.105C>T (p.Arg35=)
NM_001164665.2(KIAA1549):c.1071A>G (p.Thr357=)
NM_001164665.2(KIAA1549):c.1080A>G (p.Pro360=)
NM_001164665.2(KIAA1549):c.1090A>G (p.Thr364Ala) rs59985563
NM_001164665.2(KIAA1549):c.1090A>T (p.Thr364Ser) rs59985563
NM_001164665.2(KIAA1549):c.109_117dup (p.Arg39_Arg40insAlaArgArg)
NM_001164665.2(KIAA1549):c.1111T>G (p.Ser371Ala) rs2130481940
NM_001164665.2(KIAA1549):c.111C>T (p.Ala37=) rs1814536604
NM_001164665.2(KIAA1549):c.113GCC[5] (p.Arg41dup) rs986818086
NM_001164665.2(KIAA1549):c.1147C>G (p.Leu383Val)
NM_001164665.2(KIAA1549):c.1170A>T (p.Thr390=)
NM_001164665.2(KIAA1549):c.1174G>A (p.Glu392Lys)
NM_001164665.2(KIAA1549):c.1176A>G (p.Glu392=) rs917486205
NM_001164665.2(KIAA1549):c.1184G>A (p.Ser395Asn)
NM_001164665.2(KIAA1549):c.1184G>T (p.Ser395Ile) rs776032942
NM_001164665.2(KIAA1549):c.1193C>T (p.Ala398Val)
NM_001164665.2(KIAA1549):c.1197C>G (p.Leu399=)
NM_001164665.2(KIAA1549):c.1199C>G (p.Pro400Arg) rs1812421420
NM_001164665.2(KIAA1549):c.11C>A (p.Ala4Glu)
NM_001164665.2(KIAA1549):c.1200C>T (p.Pro400=) rs372716380
NM_001164665.2(KIAA1549):c.1203T>C (p.Gly401=)
NM_001164665.2(KIAA1549):c.1207G>A (p.Val403Met) rs532759133
NM_001164665.2(KIAA1549):c.121C>T (p.Arg41Cys)
NM_001164665.2(KIAA1549):c.1234G>A (p.Val412Met)
NM_001164665.2(KIAA1549):c.1237T>A (p.Ser413Thr) rs1812419167
NM_001164665.2(KIAA1549):c.123C>G (p.Arg41=)
NM_001164665.2(KIAA1549):c.1255A>G (p.Thr419Ala)
NM_001164665.2(KIAA1549):c.1263T>C (p.Cys421=) rs1584755914
NM_001164665.2(KIAA1549):c.126G>A (p.Pro42=)
NM_001164665.2(KIAA1549):c.1271G>A (p.Cys424Tyr) rs2130481453
NM_001164665.2(KIAA1549):c.1283C>G (p.Ser428Ter) rs1812417172
NM_001164665.2(KIAA1549):c.1284A>C (p.Ser428=)
NM_001164665.2(KIAA1549):c.1290G>T (p.Gln430His) rs954885486
NM_001164665.2(KIAA1549):c.1293A>C (p.Gln431His)
NM_001164665.2(KIAA1549):c.1294G>A (p.Val432Ile) rs2130481362
NM_001164665.2(KIAA1549):c.1297C>A (p.Leu433Met) rs1563077386
NM_001164665.2(KIAA1549):c.1305G>A (p.Thr435=)
NM_001164665.2(KIAA1549):c.130C>A (p.Leu44Met)
NM_001164665.2(KIAA1549):c.1324G>A (p.Val442Met)
NM_001164665.2(KIAA1549):c.1324G>T (p.Val442Leu) rs145624760
NM_001164665.2(KIAA1549):c.1326G>A (p.Val442=)
NM_001164665.2(KIAA1549):c.1332A>C (p.Ser444=)
NM_001164665.2(KIAA1549):c.1351C>G (p.Leu451Val) rs1812413905
NM_001164665.2(KIAA1549):c.1367T>C (p.Leu456Pro) rs905085418
NM_001164665.2(KIAA1549):c.136C>T (p.Leu46Phe) rs2130587443
NM_001164665.2(KIAA1549):c.1405G>A (p.Ala469Thr)
NM_001164665.2(KIAA1549):c.1431T>A (p.Asp477Glu)
NM_001164665.2(KIAA1549):c.1438G>A (p.Val480Ile)
NM_001164665.2(KIAA1549):c.1455_1456delinsTG (p.Pro486Ala)
NM_001164665.2(KIAA1549):c.1460C>T (p.Ser487Phe)
NM_001164665.2(KIAA1549):c.1463G>T (p.Arg488Ile)
NM_001164665.2(KIAA1549):c.1466C>G (p.Pro489Arg)
NM_001164665.2(KIAA1549):c.1468A>G (p.Ile490Val)
NM_001164665.2(KIAA1549):c.1470C>T (p.Ile490=)
NM_001164665.2(KIAA1549):c.1471G>A (p.Val491Ile)
NM_001164665.2(KIAA1549):c.14G>A (p.Arg5Gln)
NM_001164665.2(KIAA1549):c.1500C>T (p.Ile500=)
NM_001164665.2(KIAA1549):c.1503A>C (p.Ser501=)
NM_001164665.2(KIAA1549):c.1517G>A (p.Gly506Asp)
NM_001164665.2(KIAA1549):c.1519A>G (p.Ile507Val) rs1812406150
NM_001164665.2(KIAA1549):c.151CTG[5] (p.Leu54_Ala55insLeu)
NM_001164665.2(KIAA1549):c.1528G>A (p.Glu510Lys)
NM_001164665.2(KIAA1549):c.1531G>A (p.Val511Met) rs2130480614
NM_001164665.2(KIAA1549):c.1535A>C (p.Asp512Ala)
NM_001164665.2(KIAA1549):c.1545T>C (p.Ser515=)
NM_001164665.2(KIAA1549):c.1557A>G (p.Thr519=) rs777359193
NM_001164665.2(KIAA1549):c.1559A>G (p.Gln520Arg)
NM_001164665.2(KIAA1549):c.1562T>A (p.Val521Asp)
NM_001164665.2(KIAA1549):c.1562T>C (p.Val521Ala) rs377033404
NM_001164665.2(KIAA1549):c.1576G>A (p.Gly526Ser)
NM_001164665.2(KIAA1549):c.1579C>T (p.Arg527Cys) rs768849251
NM_001164665.2(KIAA1549):c.1580G>A (p.Arg527His)
NM_001164665.2(KIAA1549):c.1580G>C (p.Arg527Pro) rs373550190
NM_001164665.2(KIAA1549):c.1584C>T (p.Leu528=)
NM_001164665.2(KIAA1549):c.1607C>T (p.Pro536Leu)
NM_001164665.2(KIAA1549):c.160C>T (p.Leu54=) rs1814533767
NM_001164665.2(KIAA1549):c.1617C>T (p.Gly539=)
NM_001164665.2(KIAA1549):c.1619C>G (p.Ser540Cys)
NM_001164665.2(KIAA1549):c.1622T>C (p.Leu541Ser) rs1181178656
NM_001164665.2(KIAA1549):c.1627G>C (p.Val543Leu)
NM_001164665.2(KIAA1549):c.163G>A (p.Ala55Thr) rs1814533414
NM_001164665.2(KIAA1549):c.1640A>G (p.Gln547Arg)
NM_001164665.2(KIAA1549):c.1653C>T (p.Ser551=)
NM_001164665.2(KIAA1549):c.166C>T (p.Arg56Trp)
NM_001164665.2(KIAA1549):c.1677G>A (p.Ser559=) rs367601456
NM_001164665.2(KIAA1549):c.1690A>C (p.Ile564Leu) rs1342788818
NM_001164665.2(KIAA1549):c.1695C>T (p.Leu565=)
NM_001164665.2(KIAA1549):c.1704A>T (p.Ser568=) rs755986683
NM_001164665.2(KIAA1549):c.1726A>C (p.Lys576Gln) rs2130479939
NM_001164665.2(KIAA1549):c.1741C>G (p.Leu581Val) rs758077678
NM_001164665.2(KIAA1549):c.1769C>A (p.Thr590Lys) rs144262582
NM_001164665.2(KIAA1549):c.176C>T (p.Ser59Leu)
NM_001164665.2(KIAA1549):c.1776T>C (p.Tyr592=) rs780983646
NM_001164665.2(KIAA1549):c.1778G>A (p.Ser593Asn)
NM_001164665.2(KIAA1549):c.1779T>G (p.Ser593Arg)
NM_001164665.2(KIAA1549):c.17_35del (p.Arg6fs) rs1252714012
NM_001164665.2(KIAA1549):c.1807T>G (p.Phe603Val) rs1239710738
NM_001164665.2(KIAA1549):c.1821A>C (p.Glu607Asp)
NM_001164665.2(KIAA1549):c.1823G>A (p.Arg608His)
NM_001164665.2(KIAA1549):c.1823G>T (p.Arg608Leu) rs370628698
NM_001164665.2(KIAA1549):c.1830T>A (p.Ser610Arg) rs774198545
NM_001164665.2(KIAA1549):c.1835C>T (p.Ser612Phe) rs2130479571
NM_001164665.2(KIAA1549):c.183C>G (p.Ala61=) rs1021898588
NM_001164665.2(KIAA1549):c.1846C>T (p.Pro616Ser) rs1584754941
NM_001164665.2(KIAA1549):c.1848_1849inv (p.Arg617Gly)
NM_001164665.2(KIAA1549):c.1869A>C (p.Ala623=) rs752370713
NM_001164665.2(KIAA1549):c.187+10G>A rs2130587263
NM_001164665.2(KIAA1549):c.187+12C>G
NM_001164665.2(KIAA1549):c.187+17C>G
NM_001164665.2(KIAA1549):c.187+9_187+28del
NM_001164665.2(KIAA1549):c.188-20A>G rs2130484583
NM_001164665.2(KIAA1549):c.1886C>A (p.Thr629Lys)
NM_001164665.2(KIAA1549):c.1888C>G (p.Pro630Ala) rs369518019
NM_001164665.2(KIAA1549):c.1891C>G (p.Pro631Ala)
NM_001164665.2(KIAA1549):c.1893G>T (p.Pro631=) rs1331337813
NM_001164665.2(KIAA1549):c.1902C>T (p.Leu634=)
NM_001164665.2(KIAA1549):c.1910C>T (p.Ser637Phe)
NM_001164665.2(KIAA1549):c.1923T>C (p.Pro641=) rs2130479266
NM_001164665.2(KIAA1549):c.1926G>A (p.Ser642=) rs764962649
NM_001164665.2(KIAA1549):c.1926G>C (p.Ser642=) rs764962649
NM_001164665.2(KIAA1549):c.1926G>T (p.Ser642=) rs764962649
NM_001164665.2(KIAA1549):c.1948C>G (p.Leu650Val) rs2130479154
NM_001164665.2(KIAA1549):c.195C>T (p.Leu65=) rs2130484506
NM_001164665.2(KIAA1549):c.1968C>T (p.Ser656=)
NM_001164665.2(KIAA1549):c.1969C>T (p.Pro657Ser)
NM_001164665.2(KIAA1549):c.1972T>A (p.Phe658Ile)
NM_001164665.2(KIAA1549):c.1999G>C (p.Val667Leu) rs1298775203
NM_001164665.2(KIAA1549):c.19C>G (p.Arg7Gly)
NM_001164665.2(KIAA1549):c.201G>C (p.Pro67=)
NM_001164665.2(KIAA1549):c.2030A>T (p.Asp677Val)
NM_001164665.2(KIAA1549):c.2035C>A (p.Gln679Lys) rs2130478916
NM_001164665.2(KIAA1549):c.2077T>A (p.Phe693Ile) rs2130478836
NM_001164665.2(KIAA1549):c.2116A>G (p.Thr706Ala)
NM_001164665.2(KIAA1549):c.2130A>C (p.Leu710=) rs1584754458
NM_001164665.2(KIAA1549):c.2138G>A (p.Arg713His)
NM_001164665.2(KIAA1549):c.2175T>G (p.Asp725Glu) rs1812368128
NM_001164665.2(KIAA1549):c.2177C>T (p.Ser726Phe) rs2130478533
NM_001164665.2(KIAA1549):c.2185T>C (p.Phe729Leu) rs1812367588
NM_001164665.2(KIAA1549):c.21A>G (p.Arg7=)
NM_001164665.2(KIAA1549):c.2209C>A (p.Leu737Met)
NM_001164665.2(KIAA1549):c.2209C>T (p.Leu737=)
NM_001164665.2(KIAA1549):c.2221G>A (p.Glu741Lys) rs2130478383
NM_001164665.2(KIAA1549):c.2238A>G (p.Ser746=)
NM_001164665.2(KIAA1549):c.2256C>G (p.Thr752=)
NM_001164665.2(KIAA1549):c.2266G>A (p.Glu756Lys)
NM_001164665.2(KIAA1549):c.2274A>G (p.Ser758=)
NM_001164665.2(KIAA1549):c.2284C>A (p.His762Asn) rs764051623
NM_001164665.2(KIAA1549):c.2285A>G (p.His762Arg)
NM_001164665.2(KIAA1549):c.2307G>A (p.Leu769=) rs1482001618
NM_001164665.2(KIAA1549):c.2307G>C (p.Leu769=) rs1482001618
NM_001164665.2(KIAA1549):c.2312C>T (p.Pro771Leu)
NM_001164665.2(KIAA1549):c.2313C>T (p.Pro771=)
NM_001164665.2(KIAA1549):c.2315C>A (p.Pro772His)
NM_001164665.2(KIAA1549):c.2316C>T (p.Pro772=) rs61746877
NM_001164665.2(KIAA1549):c.2366C>T (p.Pro789Leu) rs1012382417
NM_001164665.2(KIAA1549):c.2373C>A (p.Thr791=)
NM_001164665.2(KIAA1549):c.2373C>G (p.Thr791=) rs375579009
NM_001164665.2(KIAA1549):c.2373C>T (p.Thr791=) rs375579009
NM_001164665.2(KIAA1549):c.2375C>T (p.Thr792Ile)
NM_001164665.2(KIAA1549):c.2400T>G (p.Thr800=) rs1044614437
NM_001164665.2(KIAA1549):c.2405CTT[1] (p.Ser803del) rs2130477855
NM_001164665.2(KIAA1549):c.2406T>G (p.Ser802=)
NM_001164665.2(KIAA1549):c.2427A>G (p.Thr809=)
NM_001164665.2(KIAA1549):c.2436C>T (p.Asp812=)
NM_001164665.2(KIAA1549):c.2437G>A (p.Asp813Asn)
NM_001164665.2(KIAA1549):c.2438A>G (p.Asp813Gly) rs2130477741
NM_001164665.2(KIAA1549):c.2451T>C (p.Ala817=)
NM_001164665.2(KIAA1549):c.2453dup (p.Asp819fs)
NM_001164665.2(KIAA1549):c.2459G>A (p.Gly820Asp)
NM_001164665.2(KIAA1549):c.2464G>A (p.Val822Met)
NM_001164665.2(KIAA1549):c.2464G>T (p.Val822Leu) rs752478743
NM_001164665.2(KIAA1549):c.2471T>A (p.Val824Asp) rs750713293
NM_001164665.2(KIAA1549):c.2471T>C (p.Val824Ala)
NM_001164665.2(KIAA1549):c.2493C>T (p.Ala831=) rs2130477522
NM_001164665.2(KIAA1549):c.2503G>C (p.Gly835Arg)
NM_001164665.2(KIAA1549):c.2505T>C (p.Gly835=)
NM_001164665.2(KIAA1549):c.2508G>A (p.Thr836=)
NM_001164665.2(KIAA1549):c.2530C>T (p.Leu844=)
NM_001164665.2(KIAA1549):c.2538A>G (p.Ser846=) rs2130477360
NM_001164665.2(KIAA1549):c.2566C>G (p.Pro856Ala)
NM_001164665.2(KIAA1549):c.2567C>T (p.Pro856Leu)
NM_001164665.2(KIAA1549):c.2568del (p.Phe857fs) rs1812346717
NM_001164665.2(KIAA1549):c.2591C>G (p.Thr864Ser)
NM_001164665.2(KIAA1549):c.25_30dup (p.Arg9_Gly10dup) rs1483139806
NM_001164665.2(KIAA1549):c.2613A>G (p.Thr871=)
NM_001164665.2(KIAA1549):c.2624T>C (p.Val875Ala)
NM_001164665.2(KIAA1549):c.2641A>G (p.Thr881Ala)
NM_001164665.2(KIAA1549):c.2646A>C (p.Glu882Asp)
NM_001164665.2(KIAA1549):c.2666G>A (p.Gly889Asp)
NM_001164665.2(KIAA1549):c.2709C>A (p.Asp903Glu) rs201768497
NM_001164665.2(KIAA1549):c.2709C>T (p.Asp903=) rs201768497
NM_001164665.2(KIAA1549):c.2710G>C (p.Ala904Pro) rs117908080
NM_001164665.2(KIAA1549):c.2713G>A (p.Ala905Thr) rs148007950
NM_001164665.2(KIAA1549):c.271C>G (p.Gln91Glu) rs1812476755
NM_001164665.2(KIAA1549):c.2744C>T (p.Ala915Val)
NM_001164665.2(KIAA1549):c.2749C>T (p.Pro917Ser)
NM_001164665.2(KIAA1549):c.2764C>T (p.Arg922Cys)
NM_001164665.2(KIAA1549):c.2769C>T (p.Pro923=)
NM_001164665.2(KIAA1549):c.2770G>T (p.Val924Leu)
NM_001164665.2(KIAA1549):c.2782del (p.Thr928fs)
NM_001164665.2(KIAA1549):c.2792C>T (p.Ala931Val) rs1812334799
NM_001164665.2(KIAA1549):c.2794A>G (p.Thr932Ala) rs1812334716
NM_001164665.2(KIAA1549):c.27A>G (p.Arg9=)
NM_001164665.2(KIAA1549):c.2810C>T (p.Thr937Ile)
NM_001164665.2(KIAA1549):c.2834A>G (p.Tyr945Cys) rs1812332498
NM_001164665.2(KIAA1549):c.2860G>T (p.Ala954Ser) rs558202161
NM_001164665.2(KIAA1549):c.2871C>A (p.Ile957=) rs773083708
NM_001164665.2(KIAA1549):c.2876C>T (p.Thr959Ile)
NM_001164665.2(KIAA1549):c.2877T>G (p.Thr959=) rs2130476284
NM_001164665.2(KIAA1549):c.2878+1G>A rs2130476276
NM_001164665.2(KIAA1549):c.287A>G (p.Glu96Gly)
NM_001164665.2(KIAA1549):c.2884G>T (p.Ala962Ser)
NM_001164665.2(KIAA1549):c.2890del (p.Arg964fs)
NM_001164665.2(KIAA1549):c.2892A>G (p.Arg964=)
NM_001164665.2(KIAA1549):c.2899C>G (p.Gln967Glu)
NM_001164665.2(KIAA1549):c.2911A>G (p.Ile971Val)
NM_001164665.2(KIAA1549):c.2912T>C (p.Ile971Thr)
NM_001164665.2(KIAA1549):c.2920A>G (p.Ile974Val) rs778499446
NM_001164665.2(KIAA1549):c.2930T>C (p.Val977Ala)
NM_001164665.2(KIAA1549):c.2955A>C (p.Ala985=) rs370490539
NM_001164665.2(KIAA1549):c.2960A>T (p.Glu987Val) rs2130468322
NM_001164665.2(KIAA1549):c.2967+3G>A
NM_001164665.2(KIAA1549):c.2968-5C>T rs1299726927
NM_001164665.2(KIAA1549):c.2979A>G (p.Leu993=)
NM_001164665.2(KIAA1549):c.298G>A (p.Gly100Ser)
NM_001164665.2(KIAA1549):c.298G>T (p.Gly100Cys)
NM_001164665.2(KIAA1549):c.299G>A (p.Gly100Asp) rs1812474081
NM_001164665.2(KIAA1549):c.29_31dup (p.Gly10dup) rs2130587865
NM_001164665.2(KIAA1549):c.3005C>T (p.Thr1002Ile)
NM_001164665.2(KIAA1549):c.3008C>G (p.Ser1003Cys)
NM_001164665.2(KIAA1549):c.3018C>T (p.Phe1006=) rs369870112
NM_001164665.2(KIAA1549):c.3029C>G (p.Ala1010Gly)
NM_001164665.2(KIAA1549):c.303C>A (p.Ser101=) rs926013337
NM_001164665.2(KIAA1549):c.303C>T (p.Ser101=)
NM_001164665.2(KIAA1549):c.3052A>G (p.Ile1018Val) rs185695096
NM_001164665.2(KIAA1549):c.3066T>G (p.Leu1022=)
NM_001164665.2(KIAA1549):c.3103C>A (p.Pro1035Thr) rs1812160468
NM_001164665.2(KIAA1549):c.3107C>G (p.Ser1036Cys) rs2130465924
NM_001164665.2(KIAA1549):c.3114T>C (p.Leu1038=)
NM_001164665.2(KIAA1549):c.3115G>C (p.Val1039Leu)
NM_001164665.2(KIAA1549):c.3118C>A (p.Pro1040Thr) rs2130465900
NM_001164665.2(KIAA1549):c.3118C>T (p.Pro1040Ser)
NM_001164665.2(KIAA1549):c.3129G>T (p.Arg1043Ser)
NM_001164665.2(KIAA1549):c.3136G>A (p.Val1046Ile) rs1430870322
NM_001164665.2(KIAA1549):c.3145+16A>C
NM_001164665.2(KIAA1549):c.3156T>C (p.Phe1052=)
NM_001164665.2(KIAA1549):c.3161C>T (p.Pro1054Leu) rs1812095295
NM_001164665.2(KIAA1549):c.3164C>G (p.Pro1055Arg) rs368584498
NM_001164665.2(KIAA1549):c.3167G>A (p.Ser1056Asn) rs1353794929
NM_001164665.2(KIAA1549):c.3171G>A (p.Val1057=)
NM_001164665.2(KIAA1549):c.317C>G (p.Pro106Arg) rs777742105
NM_001164665.2(KIAA1549):c.3188A>C (p.Asn1063Thr)
NM_001164665.2(KIAA1549):c.3194C>G (p.Thr1065Ser)
NM_001164665.2(KIAA1549):c.3214C>G (p.Leu1072Val) rs2130461801
NM_001164665.2(KIAA1549):c.324T>C (p.His108=)
NM_001164665.2(KIAA1549):c.3254G>A (p.Gly1085Glu) rs1812090971
NM_001164665.2(KIAA1549):c.3258G>T (p.Thr1086=)
NM_001164665.2(KIAA1549):c.3269C>A (p.Thr1090Lys) rs377595061
NM_001164665.2(KIAA1549):c.3269C>T (p.Thr1090Met) rs377595061
NM_001164665.2(KIAA1549):c.3276+20C>T
NM_001164665.2(KIAA1549):c.3276+8T>A
NM_001164665.2(KIAA1549):c.3277-11T>A
NM_001164665.2(KIAA1549):c.3277-8del rs1448708672
NM_001164665.2(KIAA1549):c.3277A>G (p.Ile1093Val) rs1184294789
NM_001164665.2(KIAA1549):c.3291C>T (p.Thr1097=) rs1242364727
NM_001164665.2(KIAA1549):c.3305G>A (p.Arg1102Lys) rs1812027670
NM_001164665.2(KIAA1549):c.3306G>C (p.Arg1102Ser) rs1812027560
NM_001164665.2(KIAA1549):c.3316C>T (p.Arg1106Trp)
NM_001164665.2(KIAA1549):c.3317G>A (p.Arg1106Gln) rs200423257
NM_001164665.2(KIAA1549):c.3317G>T (p.Arg1106Leu) rs200423257
NM_001164665.2(KIAA1549):c.3319C>G (p.Arg1107Gly) rs775250591
NM_001164665.2(KIAA1549):c.3319C>T (p.Arg1107Trp)
NM_001164665.2(KIAA1549):c.3323G>T (p.Gly1108Val) rs760918674
NM_001164665.2(KIAA1549):c.3326C>G (p.Pro1109Arg) rs532793851
NM_001164665.2(KIAA1549):c.3326C>T (p.Pro1109Leu) rs532793851
NM_001164665.2(KIAA1549):c.3350A>G (p.Lys1117Arg)
NM_001164665.2(KIAA1549):c.335C>T (p.Pro112Leu)
NM_001164665.2(KIAA1549):c.3398G>A (p.Arg1133Lys)
NM_001164665.2(KIAA1549):c.3399A>C (p.Arg1133Ser) rs1416758816
NM_001164665.2(KIAA1549):c.3409G>C (p.Val1137Leu) rs1379089715
NM_001164665.2(KIAA1549):c.3418T>C (p.Phe1140Leu) rs904897191
NM_001164665.2(KIAA1549):c.3445C>T (p.Leu1149=) rs2130457767
NM_001164665.2(KIAA1549):c.3450G>A (p.Gln1150=) rs377434618
NM_001164665.2(KIAA1549):c.3451A>G (p.Ile1151Val)
NM_001164665.2(KIAA1549):c.3460+13dup
NM_001164665.2(KIAA1549):c.3460+17T>A rs2130457696
NM_001164665.2(KIAA1549):c.3461-11C>G rs1388117935
NM_001164665.2(KIAA1549):c.3461-4G>A
NM_001164665.2(KIAA1549):c.346A>G (p.Thr116Ala) rs2130484085
NM_001164665.2(KIAA1549):c.3474A>G (p.Pro1158=)
NM_001164665.2(KIAA1549):c.3477G>A (p.Gln1159=)
NM_001164665.2(KIAA1549):c.3480C>G (p.Leu1160=)
NM_001164665.2(KIAA1549):c.3503C>A (p.Ser1168Tyr)
NM_001164665.2(KIAA1549):c.3506C>T (p.Ser1169Phe)
NM_001164665.2(KIAA1549):c.3513C>T (p.Val1171=)
NM_001164665.2(KIAA1549):c.3515G>T (p.Arg1172Ile)
NM_001164665.2(KIAA1549):c.3520+15T>G
NM_001164665.2(KIAA1549):c.3521-4G>A
NM_001164665.2(KIAA1549):c.3525C>T (p.Leu1175=)
NM_001164665.2(KIAA1549):c.3560T>C (p.Val1187Ala) rs763332062
NM_001164665.2(KIAA1549):c.3561G>C (p.Val1187=) rs1584743300
NM_001164665.2(KIAA1549):c.3581G>A (p.Arg1194His)
NM_001164665.2(KIAA1549):c.3603C>T (p.Ser1201=)
NM_001164665.2(KIAA1549):c.3649G>A (p.Ala1217Thr) rs756135808
NM_001164665.2(KIAA1549):c.3655A>G (p.Asn1219Asp) rs1811904559
NM_001164665.2(KIAA1549):c.3670-10T>C
NM_001164665.2(KIAA1549):c.3670-8T>C
NM_001164665.2(KIAA1549):c.3670-9A>G rs577155301
NM_001164665.2(KIAA1549):c.3688C>G (p.Leu1230Val) rs1811771533
NM_001164665.2(KIAA1549):c.3702C>A (p.Asp1234Glu) rs746749231
NM_001164665.2(KIAA1549):c.3706C>T (p.Pro1236Ser) rs2130442604
NM_001164665.2(KIAA1549):c.3708G>A (p.Pro1236=) rs7802841
NM_001164665.2(KIAA1549):c.3783C>A (p.Asn1261Lys)
NM_001164665.2(KIAA1549):c.3816G>C (p.Leu1272Phe)
NM_001164665.2(KIAA1549):c.3816G>T (p.Leu1272Phe) rs1195508927
NM_001164665.2(KIAA1549):c.3827T>C (p.Ile1276Thr)
NM_001164665.2(KIAA1549):c.3838A>G (p.Ile1280Val) rs1811765687
NM_001164665.2(KIAA1549):c.3843C>T (p.Ala1281=) rs532278616
NM_001164665.2(KIAA1549):c.3847+14G>A rs758641716
NM_001164665.2(KIAA1549):c.3847+14del rs541855481
NM_001164665.2(KIAA1549):c.3847+16G>A
NM_001164665.2(KIAA1549):c.3847+18_3847+20del rs771481978
NM_001164665.2(KIAA1549):c.3847+9C>T
NM_001164665.2(KIAA1549):c.3847C>T (p.Pro1283Ser)
NM_001164665.2(KIAA1549):c.3848-11del rs1056139838
NM_001164665.2(KIAA1549):c.3848-19C>G
NM_001164665.2(KIAA1549):c.3848C>T (p.Pro1283Leu)
NM_001164665.2(KIAA1549):c.3852C>T (p.Val1284=)
NM_001164665.2(KIAA1549):c.3869C>T (p.Pro1290Leu) rs984290862
NM_001164665.2(KIAA1549):c.3885G>A (p.Gln1295=) rs2130433597
NM_001164665.2(KIAA1549):c.3893A>G (p.Asn1298Ser)
NM_001164665.2(KIAA1549):c.389A>G (p.Lys130Arg)
NM_001164665.2(KIAA1549):c.3901G>A (p.Val1301Ile)
NM_001164665.2(KIAA1549):c.3901G>C (p.Val1301Leu)
NM_001164665.2(KIAA1549):c.3905T>C (p.Ile1302Thr)
NM_001164665.2(KIAA1549):c.3912C>T (p.Gly1304=)
NM_001164665.2(KIAA1549):c.391A>G (p.Ser131Gly) rs1158477076
NM_001164665.2(KIAA1549):c.3945T>A (p.Ile1315=)
NM_001164665.2(KIAA1549):c.3954C>A (p.Ile1318=)
NM_001164665.2(KIAA1549):c.3957C>A (p.Leu1319=)
NM_001164665.2(KIAA1549):c.3958T>C (p.Tyr1320His) rs2130433441
NM_001164665.2(KIAA1549):c.3977C>T (p.Thr1326Ile) rs1811626473
NM_001164665.2(KIAA1549):c.397G>T (p.Ala133Ser)
NM_001164665.2(KIAA1549):c.3993del (p.Gln1332fs) rs1554417054
NM_001164665.2(KIAA1549):c.4033-14T>C rs2130407340
NM_001164665.2(KIAA1549):c.4033-9_4033-8del rs750350878
NM_001164665.2(KIAA1549):c.4058T>C (p.Phe1353Ser)
NM_001164665.2(KIAA1549):c.4059C>T (p.Phe1353=)
NM_001164665.2(KIAA1549):c.4065T>C (p.Phe1355=)
NM_001164665.2(KIAA1549):c.4068T>A (p.Ala1356=) rs1563061243
NM_001164665.2(KIAA1549):c.4078C>T (p.Leu1360=)
NM_001164665.2(KIAA1549):c.4090A>G (p.Asn1364Asp) rs2130407111
NM_001164665.2(KIAA1549):c.4099G>A (p.Asp1367Asn)
NM_001164665.2(KIAA1549):c.4099G>T (p.Asp1367Tyr) rs765115844
NM_001164665.2(KIAA1549):c.4102A>G (p.Ile1368Val) rs1423632158
NM_001164665.2(KIAA1549):c.4114C>T (p.His1372Tyr) rs1811243484
NM_001164665.2(KIAA1549):c.4125G>C (p.Ala1375=) rs377023001
NM_001164665.2(KIAA1549):c.4134A>G (p.Pro1378=)
NM_001164665.2(KIAA1549):c.4150C>A (p.His1384Asn) rs1387844837
NM_001164665.2(KIAA1549):c.4176C>T (p.Asp1392=)
NM_001164665.2(KIAA1549):c.4177G>A (p.Val1393Met) rs563679165
NM_001164665.2(KIAA1549):c.4179G>C (p.Val1393=)
NM_001164665.2(KIAA1549):c.4201C>G (p.Pro1401Ala)
NM_001164665.2(KIAA1549):c.4217G>T (p.Arg1406Leu) rs375872081
NM_001164665.2(KIAA1549):c.4245T>C (p.Asp1415=)
NM_001164665.2(KIAA1549):c.4248T>A (p.Ala1416=)
NM_001164665.2(KIAA1549):c.4248T>G (p.Ala1416=) rs1198210018
NM_001164665.2(KIAA1549):c.4253C>G (p.Ser1418Cys) rs1584725579
NM_001164665.2(KIAA1549):c.4257G>A (p.Thr1419=) rs146930653
NM_001164665.2(KIAA1549):c.4257G>C (p.Thr1419=) rs146930653
NM_001164665.2(KIAA1549):c.4257G>T (p.Thr1419=) rs146930653
NM_001164665.2(KIAA1549):c.4264G>C (p.Glu1422Gln)
NM_001164665.2(KIAA1549):c.4264_4269del (p.Glu1422_Glu1423del) rs1811186824
NM_001164665.2(KIAA1549):c.4274G>A (p.Ser1425Asn) rs1384335593
NM_001164665.2(KIAA1549):c.4276G>A (p.Glu1426Lys)
NM_001164665.2(KIAA1549):c.427G>A (p.Val143Met)
NM_001164665.2(KIAA1549):c.4281G>A (p.Arg1427=)
NM_001164665.2(KIAA1549):c.4295A>G (p.Lys1432Arg) rs1811185008
NM_001164665.2(KIAA1549):c.4302G>A (p.Pro1434=)
NM_001164665.2(KIAA1549):c.4305A>G (p.Gly1435=)
NM_001164665.2(KIAA1549):c.4309G>A (p.Val1437Ile) rs373307907
NM_001164665.2(KIAA1549):c.4320C>G (p.Gly1440=)
NM_001164665.2(KIAA1549):c.4338G>A (p.Pro1446=)
NM_001164665.2(KIAA1549):c.4338G>T (p.Pro1446=)
NM_001164665.2(KIAA1549):c.4345+11C>G
NM_001164665.2(KIAA1549):c.4345+17G>A rs1251155781
NM_001164665.2(KIAA1549):c.4346-17T>G rs1810933901
NM_001164665.2(KIAA1549):c.4346-9C>G
NM_001164665.2(KIAA1549):c.4351C>T (p.Pro1451Ser)
NM_001164665.2(KIAA1549):c.4353A>G (p.Pro1451=) rs2130386279
NM_001164665.2(KIAA1549):c.4380C>A (p.His1460Gln) rs138395431
NM_001164665.2(KIAA1549):c.4380C>T (p.His1460=) rs138395431
NM_001164665.2(KIAA1549):c.4382C>T (p.Ser1461Leu) rs1810930977
NM_001164665.2(KIAA1549):c.4395C>G (p.Ile1465Met) rs1810930151
NM_001164665.2(KIAA1549):c.4399G>A (p.Glu1467Lys)
NM_001164665.2(KIAA1549):c.440G>A (p.Ser147Asn) rs1053608567
NM_001164665.2(KIAA1549):c.4420C>T (p.Arg1474Cys)
NM_001164665.2(KIAA1549):c.4422C>T (p.Arg1474=)
NM_001164665.2(KIAA1549):c.4427C>T (p.Pro1476Leu) rs201971426
NM_001164665.2(KIAA1549):c.4427dup (p.Glu1477fs) rs752867430
NM_001164665.2(KIAA1549):c.4428G>C (p.Pro1476=)
NM_001164665.2(KIAA1549):c.4436G>A (p.Ser1479Asn)
NM_001164665.2(KIAA1549):c.4442G>T (p.Arg1481Leu)
NM_001164665.2(KIAA1549):c.4443G>A (p.Arg1481=)
NM_001164665.2(KIAA1549):c.4444G>A (p.Val1482Ile)
NM_001164665.2(KIAA1549):c.4446C>A (p.Val1482=)
NM_001164665.2(KIAA1549):c.4447C>T (p.Pro1483Ser)
NM_001164665.2(KIAA1549):c.4448C>T (p.Pro1483Leu) rs758910705
NM_001164665.2(KIAA1549):c.4467_4470del (p.Ala1490fs) rs1810925849
NM_001164665.2(KIAA1549):c.4468G>T (p.Ala1490Ser) rs772969704
NM_001164665.2(KIAA1549):c.4475A>T (p.Gln1492Leu)
NM_001164665.2(KIAA1549):c.4476G>A (p.Gln1492=) rs1425791226
NM_001164665.2(KIAA1549):c.447G>A (p.Glu149=)
NM_001164665.2(KIAA1549):c.4480A>G (p.Ile1494Val) rs901044318
NM_001164665.2(KIAA1549):c.4484C>T (p.Pro1495Leu) rs747587403
NM_001164665.2(KIAA1549):c.4485G>A (p.Pro1495=)
NM_001164665.2(KIAA1549):c.4488A>G (p.Ala1496=)
NM_001164665.2(KIAA1549):c.4497C>G (p.Val1499=)
NM_001164665.2(KIAA1549):c.4506C>T (p.Pro1502=) rs930998056
NM_001164665.2(KIAA1549):c.4511C>T (p.Pro1504Leu) rs1347857306
NM_001164665.2(KIAA1549):c.4519C>A (p.Arg1507=) rs759848796
NM_001164665.2(KIAA1549):c.4520G>C (p.Arg1507Pro)
NM_001164665.2(KIAA1549):c.4521A>G (p.Arg1507=)
NM_001164665.2(KIAA1549):c.4525G>T (p.Ala1509Ser)
NM_001164665.2(KIAA1549):c.4537A>G (p.Lys1513Glu)
NM_001164665.2(KIAA1549):c.4547A>G (p.Lys1516Arg) rs1335968571
NM_001164665.2(KIAA1549):c.4551+11T>G
NM_001164665.2(KIAA1549):c.4552-15C>A
NM_001164665.2(KIAA1549):c.4554T>C (p.Ile1518=)
NM_001164665.2(KIAA1549):c.4563G>A (p.Ala1521=) rs528797020
NM_001164665.2(KIAA1549):c.4563G>T (p.Ala1521=)
NM_001164665.2(KIAA1549):c.4566G>A (p.Leu1522=) rs2130382769
NM_001164665.2(KIAA1549):c.458A>G (p.Asn153Ser) rs577561839
NM_001164665.2(KIAA1549):c.460G>A (p.Asp154Asn) rs1812460305
NM_001164665.2(KIAA1549):c.4624C>T (p.Arg1542Cys) rs775789437
NM_001164665.2(KIAA1549):c.4625G>T (p.Arg1542Leu) rs769427032
NM_001164665.2(KIAA1549):c.462C>G (p.Asp154Glu) rs191728209
NM_001164665.2(KIAA1549):c.462C>T (p.Asp154=) rs191728209
NM_001164665.2(KIAA1549):c.4641C>T (p.Phe1547=)
NM_001164665.2(KIAA1549):c.4658T>C (p.Leu1553Pro)
NM_001164665.2(KIAA1549):c.4664C>T (p.Ser1555Leu)
NM_001164665.2(KIAA1549):c.4665G>A (p.Ser1555=)
NM_001164665.2(KIAA1549):c.4665G>T (p.Ser1555=) rs764659668
NM_001164665.2(KIAA1549):c.4668C>T (p.Gly1556=)
NM_001164665.2(KIAA1549):c.4678_4680del (p.Glu1560del) rs1810864065
NM_001164665.2(KIAA1549):c.468G>A (p.Glu156=) rs2130483764
NM_001164665.2(KIAA1549):c.4690G>T (p.Val1564Leu) rs1204039344
NM_001164665.2(KIAA1549):c.4696C>T (p.Arg1566Cys)
NM_001164665.2(KIAA1549):c.469A>G (p.Met157Val) rs2130483755
NM_001164665.2(KIAA1549):c.472G>A (p.Asp158Asn)
NM_001164665.2(KIAA1549):c.4736C>A (p.Thr1579Lys) rs572212859
NM_001164665.2(KIAA1549):c.4736C>T (p.Thr1579Met) rs572212859
NM_001164665.2(KIAA1549):c.4737G>A (p.Thr1579=) rs1810861031
NM_001164665.2(KIAA1549):c.4741A>G (p.Ser1581Gly) rs1179069821
NM_001164665.2(KIAA1549):c.4775+11del rs747636400
NM_001164665.2(KIAA1549):c.4776-14_4776-13del
NM_001164665.2(KIAA1549):c.4776-16C>A
NM_001164665.2(KIAA1549):c.4778C>T (p.Ser1593Leu)
NM_001164665.2(KIAA1549):c.4780C>T (p.Arg1594Trp)
NM_001164665.2(KIAA1549):c.4785A>G (p.Ile1595Met) rs745684585
NM_001164665.2(KIAA1549):c.4790G>A (p.Arg1597His)
NM_001164665.2(KIAA1549):c.4798A>G (p.Lys1600Glu)
NM_001164665.2(KIAA1549):c.47A>C (p.Lys16Thr) rs1814542657
NM_001164665.2(KIAA1549):c.4804C>T (p.Arg1602Cys)
NM_001164665.2(KIAA1549):c.4813C>T (p.His1605Tyr) rs1810804322
NM_001164665.2(KIAA1549):c.4818G>C (p.Gln1606His) rs2130379056
NM_001164665.2(KIAA1549):c.4822A>G (p.Asn1608Asp) rs1158842038
NM_001164665.2(KIAA1549):c.4827C>T (p.Gly1609=)
NM_001164665.2(KIAA1549):c.4829G>A (p.Cys1610Tyr) rs1810803568
NM_001164665.2(KIAA1549):c.4853G>A (p.Arg1618Gln) rs371041410
NM_001164665.2(KIAA1549):c.4853G>T (p.Arg1618Leu) rs371041410
NM_001164665.2(KIAA1549):c.4857C>T (p.Leu1619=)
NM_001164665.2(KIAA1549):c.4873G>A (p.Asp1625Asn) rs768672940
NM_001164665.2(KIAA1549):c.4873G>T (p.Asp1625Tyr) rs768672940
NM_001164665.2(KIAA1549):c.4883A>G (p.Tyr1628Cys)
NM_001164665.2(KIAA1549):c.4887G>A (p.Arg1629=) rs2130378815
NM_001164665.2(KIAA1549):c.4892C>T (p.Pro1631Leu) rs2130378806
NM_001164665.2(KIAA1549):c.4899C>T (p.Gly1633=) rs923183360
NM_001164665.2(KIAA1549):c.48G>T (p.Lys16Asn) rs1814542565
NM_001164665.2(KIAA1549):c.4902C>T (p.Val1634=) rs2130378747
NM_001164665.2(KIAA1549):c.4909_4910del (p.Ala1638fs) rs2130378727
NM_001164665.2(KIAA1549):c.4920C>T (p.Ile1640=)
NM_001164665.2(KIAA1549):c.4926C>T (p.Cys1642=)
NM_001164665.2(KIAA1549):c.4929+4C>T
NM_001164665.2(KIAA1549):c.4930-8C>T
NM_001164665.2(KIAA1549):c.4950C>G (p.Ala1650=)
NM_001164665.2(KIAA1549):c.4950C>T (p.Ala1650=) rs534454945
NM_001164665.2(KIAA1549):c.4971G>A (p.Ser1657=) rs758091343
NM_001164665.2(KIAA1549):c.4980G>A (p.Leu1660=)
NM_001164665.2(KIAA1549):c.4981G>A (p.Gly1661Arg)
NM_001164665.2(KIAA1549):c.4983G>A (p.Gly1661=)
NM_001164665.2(KIAA1549):c.4989T>G (p.Tyr1663Ter) rs1584710731
NM_001164665.2(KIAA1549):c.4995C>T (p.Ala1665=)
NM_001164665.2(KIAA1549):c.49C>G (p.Pro17Ala) rs2130587812
NM_001164665.2(KIAA1549):c.5000C>A (p.Pro1667His)
NM_001164665.2(KIAA1549):c.500C>G (p.Thr167Ser) rs1812458608
NM_001164665.2(KIAA1549):c.5015A>G (p.Gln1672Arg)
NM_001164665.2(KIAA1549):c.5023C>T (p.Pro1675Ser) rs2130366572
NM_001164665.2(KIAA1549):c.5041G>A (p.Glu1681Lys)
NM_001164665.2(KIAA1549):c.504T>C (p.Thr168=) rs2130483677
NM_001164665.2(KIAA1549):c.5051G>A (p.Arg1684His) rs1810568289
NM_001164665.2(KIAA1549):c.5064C>T (p.His1688=) rs995929097
NM_001164665.2(KIAA1549):c.5070C>T (p.Leu1690=)
NM_001164665.2(KIAA1549):c.5074G>A (p.Asp1692Asn)
NM_001164665.2(KIAA1549):c.5077G>A (p.Asp1693Asn)
NM_001164665.2(KIAA1549):c.5079C>T (p.Asp1693=) rs552002443
NM_001164665.2(KIAA1549):c.5087C>T (p.Ala1696Val)
NM_001164665.2(KIAA1549):c.508C>T (p.Arg170Trp)
NM_001164665.2(KIAA1549):c.5091C>T (p.Leu1697=)
NM_001164665.2(KIAA1549):c.50C>T (p.Pro17Leu)
NM_001164665.2(KIAA1549):c.5122G>T (p.Ala1708Ser) rs773867004
NM_001164665.2(KIAA1549):c.5152C>T (p.Leu1718=) rs1370799378
NM_001164665.2(KIAA1549):c.5154G>T (p.Leu1718=)
NM_001164665.2(KIAA1549):c.5157C>G (p.Pro1719=) rs148849089
NM_001164665.2(KIAA1549):c.5165G>A (p.Ser1722Asn) rs1810562213
NM_001164665.2(KIAA1549):c.5198A>C (p.Gln1733Pro) rs946277260
NM_001164665.2(KIAA1549):c.5208C>T (p.Ser1736=)
NM_001164665.2(KIAA1549):c.5247+19G>T rs2130365841
NM_001164665.2(KIAA1549):c.5247+20A>G rs1810557823
NM_001164665.2(KIAA1549):c.5247+5G>T
NM_001164665.2(KIAA1549):c.5248-15T>C
NM_001164665.2(KIAA1549):c.5255A>G (p.Glu1752Gly) rs902568442
NM_001164665.2(KIAA1549):c.5262T>C (p.Tyr1754=)
NM_001164665.2(KIAA1549):c.5266A>G (p.Met1756Val)
NM_001164665.2(KIAA1549):c.5272C>T (p.Pro1758Ser)
NM_001164665.2(KIAA1549):c.5277G>A (p.Pro1759=)
NM_001164665.2(KIAA1549):c.5280G>A (p.Thr1760=)
NM_001164665.2(KIAA1549):c.5286A>T (p.Pro1762=)
NM_001164665.2(KIAA1549):c.5294+4A>G rs1159635854
NM_001164665.2(KIAA1549):c.5294G>A (p.Arg1765Lys) rs1398615498
NM_001164665.2(KIAA1549):c.5295-5T>C
NM_001164665.2(KIAA1549):c.52C>A (p.Arg18Ser) rs1311170771
NM_001164665.2(KIAA1549):c.530A>G (p.Tyr177Cys) rs2130483601
NM_001164665.2(KIAA1549):c.5319G>A (p.Leu1773=)
NM_001164665.2(KIAA1549):c.5330A>G (p.Glu1777Gly) rs2130334450
NM_001164665.2(KIAA1549):c.5338C>T (p.Pro1780Ser)
NM_001164665.2(KIAA1549):c.5339C>G (p.Pro1780Arg) rs1460244178
NM_001164665.2(KIAA1549):c.5341C>G (p.Pro1781Ala)
NM_001164665.2(KIAA1549):c.5351A>G (p.Gln1784Arg)
NM_001164665.2(KIAA1549):c.5351A>T (p.Gln1784Leu) rs374950423
NM_001164665.2(KIAA1549):c.5370C>G (p.Ala1790=)
NM_001164665.2(KIAA1549):c.5371G>A (p.Glu1791Lys)
NM_001164665.2(KIAA1549):c.5383G>C (p.Ala1795Pro) rs1231664155
NM_001164665.2(KIAA1549):c.53G>T (p.Arg18Leu) rs1814542023
NM_001164665.2(KIAA1549):c.5403G>A (p.Ser1801=) rs1381129838
NM_001164665.2(KIAA1549):c.5408A>C (p.Glu1803Ala) rs2130333942
NM_001164665.2(KIAA1549):c.540C>T (p.Val180=) rs1812456334
NM_001164665.2(KIAA1549):c.5418G>C (p.Ser1806=) rs774362698
NM_001164665.2(KIAA1549):c.5419G>A (p.Val1807Met) rs1259444057
NM_001164665.2(KIAA1549):c.5420T>A (p.Val1807Glu) rs759851100
NM_001164665.2(KIAA1549):c.5439C>T (p.Val1813=) rs1810007671
NM_001164665.2(KIAA1549):c.5440G>A (p.Gly1814Arg)
NM_001164665.2(KIAA1549):c.5440G>C (p.Gly1814Arg) rs747209602
NM_001164665.2(KIAA1549):c.5441G>C (p.Gly1814Ala) rs773456867
NM_001164665.2(KIAA1549):c.5442G>C (p.Gly1814=)
NM_001164665.2(KIAA1549):c.5448C>T (p.Thr1816=)
NM_001164665.2(KIAA1549):c.5450C>T (p.Thr1817Ile)
NM_001164665.2(KIAA1549):c.5452+10G>A rs1227638111
NM_001164665.2(KIAA1549):c.5452+16T>A
NM_001164665.2(KIAA1549):c.5452+5A>G
NM_001164665.2(KIAA1549):c.5453-12T>C rs2130325078
NM_001164665.2(KIAA1549):c.5463C>T (p.Ile1821=) rs1809875438
NM_001164665.2(KIAA1549):c.5481G>A (p.Val1827=) rs918753452
NM_001164665.2(KIAA1549):c.5481G>C (p.Val1827=)
NM_001164665.2(KIAA1549):c.5485A>C (p.Ile1829Leu)
NM_001164665.2(KIAA1549):c.5507A>C (p.Gln1836Pro) rs1434454611
NM_001164665.2(KIAA1549):c.5523G>A (p.Pro1841=) rs199869689
NM_001164665.2(KIAA1549):c.5523G>T (p.Pro1841=) rs199869689
NM_001164665.2(KIAA1549):c.552G>C (p.Gly184=)
NM_001164665.2(KIAA1549):c.5535C>G (p.Gly1845=)
NM_001164665.2(KIAA1549):c.5538C>T (p.Ser1846=) rs926490123
NM_001164665.2(KIAA1549):c.5541G>T (p.Gln1847His)
NM_001164665.2(KIAA1549):c.5545G>A (p.Gly1849Arg)
NM_001164665.2(KIAA1549):c.5545G>T (p.Gly1849Trp) rs751078785
NM_001164665.2(KIAA1549):c.5554G>C (p.Gly1852Arg) rs2130324696
NM_001164665.2(KIAA1549):c.5564C>T (p.Ser1855Leu)
NM_001164665.2(KIAA1549):c.5572G>A (p.Glu1858Lys) rs2130324591
NM_001164665.2(KIAA1549):c.5576A>G (p.Asp1859Gly)
NM_001164665.2(KIAA1549):c.5586G>T (p.Gly1862=)
NM_001164665.2(KIAA1549):c.5587C>T (p.Arg1863Ter)
NM_001164665.2(KIAA1549):c.5598+13T>C
NM_001164665.2(KIAA1549):c.5598+17T>G
NM_001164665.2(KIAA1549):c.5598+5G>A
NM_001164665.2(KIAA1549):c.5598+7A>G
NM_001164665.2(KIAA1549):c.5599-11A>G
NM_001164665.2(KIAA1549):c.5599-18G>A
NM_001164665.2(KIAA1549):c.5599-18G>T
NM_001164665.2(KIAA1549):c.5599A>G (p.Thr1867Ala) rs960830188
NM_001164665.2(KIAA1549):c.5605A>G (p.Met1869Val) rs1391101344
NM_001164665.2(KIAA1549):c.560G>T (p.Arg187Met) rs762823216
NM_001164665.2(KIAA1549):c.5611G>A (p.Gly1871Arg)
NM_001164665.2(KIAA1549):c.5613A>G (p.Gly1871=)
NM_001164665.2(KIAA1549):c.5617C>G (p.Gln1873Glu)
NM_001164665.2(KIAA1549):c.5625TTC[2] (p.Ser1878del)
NM_001164665.2(KIAA1549):c.5627C>A (p.Ser1876Tyr)
NM_001164665.2(KIAA1549):c.5627C>G (p.Ser1876Cys)
NM_001164665.2(KIAA1549):c.5632T>C (p.Ser1878Pro)
NM_001164665.2(KIAA1549):c.5637G>A (p.Pro1879=) rs760166055
NM_001164665.2(KIAA1549):c.5673C>T (p.Pro1891=)
NM_001164665.2(KIAA1549):c.5686G>T (p.Gly1896Trp)
NM_001164665.2(KIAA1549):c.5687G>C (p.Gly1896Ala)
NM_001164665.2(KIAA1549):c.5698C>G (p.His1900Asp) rs573970210
NM_001164665.2(KIAA1549):c.5730C>T (p.Tyr1910=) rs767053561
NM_001164665.2(KIAA1549):c.5731C>T (p.Pro1911Ser) rs1809791012
NM_001164665.2(KIAA1549):c.5734A>G (p.Thr1912Ala)
NM_001164665.2(KIAA1549):c.5761G>C (p.Gly1921Arg) rs1211496955
NM_001164665.2(KIAA1549):c.5764C>A (p.His1922Asn)
NM_001164665.2(KIAA1549):c.5765A>G (p.His1922Arg) rs1809788517
NM_001164665.2(KIAA1549):c.5768C>T (p.Ser1923Phe)
NM_001164665.2(KIAA1549):c.5778T>C (p.Ser1926=) rs991090136
NM_001164665.2(KIAA1549):c.5781C>A (p.Leu1927=) rs2130318971
NM_001164665.2(KIAA1549):c.5795G>A (p.Arg1932His) rs757094385
NM_001164665.2(KIAA1549):c.5796C>A (p.Arg1932=) rs577677915
NM_001164665.2(KIAA1549):c.5809C>T (p.Arg1937Trp)
NM_001164665.2(KIAA1549):c.5810G>A (p.Arg1937Gln)
NM_001164665.2(KIAA1549):c.5814C>T (p.Leu1938=) rs1413548368
NM_001164665.2(KIAA1549):c.5822A>G (p.Lys1941Arg) rs2130318838
NM_001164665.2(KIAA1549):c.5826G>C (p.Gln1942His)
NM_001164665.2(KIAA1549):c.5831C>T (p.Thr1944Ile) rs1370272885
NM_001164665.2(KIAA1549):c.5841C>G (p.Asn1947Lys)
NM_001164665.2(KIAA1549):c.5844C>T (p.Phe1948=)
NM_001164665.2(KIAA1549):c.588A>G (p.Pro196=)
NM_001164665.2(KIAA1549):c.5C>T (p.Pro2Leu)
NM_001164665.2(KIAA1549):c.60G>A (p.Gly20=)
NM_001164665.2(KIAA1549):c.60G>T (p.Gly20=)
NM_001164665.2(KIAA1549):c.61G>A (p.Val21Ile)
NM_001164665.2(KIAA1549):c.655C>G (p.Pro219Ala)
NM_001164665.2(KIAA1549):c.657A>T (p.Pro219=) rs1812449528
NM_001164665.2(KIAA1549):c.666T>C (p.Tyr222=) rs374615402
NM_001164665.2(KIAA1549):c.676G>C (p.Ala226Pro)
NM_001164665.2(KIAA1549):c.676G>T (p.Ala226Ser)
NM_001164665.2(KIAA1549):c.678C>T (p.Ala226=)
NM_001164665.2(KIAA1549):c.687C>T (p.Phe229=)
NM_001164665.2(KIAA1549):c.68T>A (p.Leu23Gln) rs1348595902
NM_001164665.2(KIAA1549):c.691A>G (p.Thr231Ala) rs780477884
NM_001164665.2(KIAA1549):c.6G>A (p.Pro2=) rs1457832385
NM_001164665.2(KIAA1549):c.701C>T (p.Ser234Leu) rs1812446495
NM_001164665.2(KIAA1549):c.702A>G (p.Ser234=)
NM_001164665.2(KIAA1549):c.709C>T (p.Arg237Cys)
NM_001164665.2(KIAA1549):c.710G>A (p.Arg237His) rs112263100
NM_001164665.2(KIAA1549):c.710G>C (p.Arg237Pro)
NM_001164665.2(KIAA1549):c.710G>T (p.Arg237Leu) rs112263100
NM_001164665.2(KIAA1549):c.721G>A (p.Gly241Ser)
NM_001164665.2(KIAA1549):c.730C>A (p.Pro244Thr) rs759573104
NM_001164665.2(KIAA1549):c.73C>T (p.Pro25Ser)
NM_001164665.2(KIAA1549):c.742A>G (p.Arg248Gly) rs766287099
NM_001164665.2(KIAA1549):c.746A>G (p.Asn249Ser)
NM_001164665.2(KIAA1549):c.74C>G (p.Pro25Arg)
NM_001164665.2(KIAA1549):c.74C>T (p.Pro25Leu)
NM_001164665.2(KIAA1549):c.751G>A (p.Val251Met)
NM_001164665.2(KIAA1549):c.751G>C (p.Val251Leu)
NM_001164665.2(KIAA1549):c.763A>C (p.Thr255Pro)
NM_001164665.2(KIAA1549):c.778C>T (p.His260Tyr)
NM_001164665.2(KIAA1549):c.77G>A (p.Gly26Glu)
NM_001164665.2(KIAA1549):c.78G>A (p.Gly26=)
NM_001164665.2(KIAA1549):c.792G>C (p.Arg264Ser) rs771354824
NM_001164665.2(KIAA1549):c.798G>A (p.Leu266=) rs2130482846
NM_001164665.2(KIAA1549):c.813T>C (p.Ala271=) rs980521202
NM_001164665.2(KIAA1549):c.81G>C (p.Pro27=)
NM_001164665.2(KIAA1549):c.841C>G (p.Leu281Val)
NM_001164665.2(KIAA1549):c.852C>T (p.Ser284=)
NM_001164665.2(KIAA1549):c.854C>T (p.Ser285Phe)
NM_001164665.2(KIAA1549):c.858G>T (p.Arg286=)
NM_001164665.2(KIAA1549):c.85G>T (p.Gly29Cys)
NM_001164665.2(KIAA1549):c.873G>A (p.Gln291=)
NM_001164665.2(KIAA1549):c.88C>A (p.Arg30=)
NM_001164665.2(KIAA1549):c.893C>G (p.Thr298Ser)
NM_001164665.2(KIAA1549):c.895A>G (p.Ile299Val) rs767358584
NM_001164665.2(KIAA1549):c.8G>A (p.Gly3Glu) rs1814544586
NM_001164665.2(KIAA1549):c.900G>A (p.Pro300=)
NM_001164665.2(KIAA1549):c.912G>A (p.Leu304=)
NM_001164665.2(KIAA1549):c.915G>A (p.Gly305=)
NM_001164665.2(KIAA1549):c.916G>A (p.Glu306Lys) rs2130482418
NM_001164665.2(KIAA1549):c.927G>T (p.Gln309His) rs2130482405
NM_001164665.2(KIAA1549):c.929C>T (p.Pro310Leu)
NM_001164665.2(KIAA1549):c.92G>A (p.Arg31Gln)
NM_001164665.2(KIAA1549):c.92G>C (p.Arg31Pro) rs1044503944
NM_001164665.2(KIAA1549):c.937del (p.Glu313fs) rs1812432416
NM_001164665.2(KIAA1549):c.958G>C (p.Asp320His) rs61978615
NM_001164665.2(KIAA1549):c.984G>A (p.Val328=)
NM_001164665.2(KIAA1549):c.987G>A (p.Leu329=) rs2130482250
NM_001164665.2(KIAA1549):c.988A>G (p.Ser330Gly) rs2130482244
NM_001164665.2(KIAA1549):c.99C>T (p.Ser33=) rs2130587599

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