ClinVar Miner

List of variants in gene PC

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1357
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001040716.2(PC):c.1022+154C>A rs45625436 0.04358
NM_001040716.2(PC):c.2224-9T>G rs45560936 0.03311
NM_001040716.2(PC):c.903+298T>G rs117910719 0.01537
NM_001040716.2(PC):c.1-237C>A rs142296495 0.01427
NM_001040716.2(PC):c.1-245G>C rs116480910 0.01387
NM_001040716.2(PC):c.2580C>T (p.Asp860=) rs45584036 0.01323
NM_001040716.2(PC):c.1825+22C>T rs45620032 0.01202
NM_001040716.2(PC):c.2619C>T (p.Asn873=) rs2229745 0.01182
NM_001040716.2(PC):c.1185+172G>A rs116177198 0.01092
NM_001040716.2(PC):c.752-153C>T rs114092976 0.00981
NM_001040716.2(PC):c.1368+142T>C rs7114229 0.00978
NM_001040716.2(PC):c.1022+283G>A rs6591224 0.00977
NM_001040716.2(PC):c.1023-231A>G rs114433027 0.00977
NM_001040716.2(PC):c.1368+294G>A rs112362874 0.00973
NM_001040716.2(PC):c.1185+111G>A rs45549542 0.00972
NM_001040716.2(PC):c.1023-33C>T rs116706384 0.00971
NM_001040716.2(PC):c.1983-92A>T rs115582831 0.00912
NM_001040716.2(PC):c.1983-91G>T rs75171422 0.00911
NM_001040716.2(PC):c.2249C>T (p.Thr750Met) rs145400751 0.00662
NM_001040716.2(PC):c.2682T>C (p.Tyr894=) rs56705397 0.00598
NM_001040716.2(PC):c.1514-51G>A rs141970908 0.00425
NM_001040716.2(PC):c.85G>A (p.Val29Ile) rs45471099 0.00394
NM_001040716.2(PC):c.1023-57C>T rs45589939 0.00392
NM_001040716.2(PC):c.321+5G>A rs200766019 0.00264
NM_001040716.2(PC):c.1608G>A (p.Pro536=) rs139074169 0.00210
NM_001040716.2(PC):c.*13C>T rs58032722 0.00173
NM_001040716.2(PC):c.1344G>A (p.Ala448=) rs148281644 0.00158
NM_001040716.2(PC):c.2223+19C>T rs45457699 0.00153
NM_001040716.2(PC):c.951C>T (p.His317=) rs142309583 0.00147
NM_001040716.2(PC):c.616G>T (p.Val206Leu) rs147945506 0.00126
NM_001040716.2(PC):c.*89G>A rs186152567 0.00123
NM_001040716.2(PC):c.1604-17G>A rs79317761 0.00103
NM_001040716.2(PC):c.1513+13del rs755170894 0.00099
NM_001040716.2(PC):c.3342G>A (p.Ala1114=) rs141978731 0.00088
NM_001040716.2(PC):c.52C>A (p.Arg18=) rs144583275 0.00086
NM_001040716.2(PC):c.904-17C>T rs199565222 0.00083
NM_001040716.2(PC):c.2550C>T (p.Cys850=) rs61749179 0.00080
NM_001040716.2(PC):c.2856C>T (p.Ile952=) rs183661331 0.00065
NM_001040716.2(PC):c.1-35650G>A rs78739472 0.00061
NM_001040716.2(PC):c.496G>A (p.Val166Ile) rs147697454 0.00060
NM_001040716.2(PC):c.216G>A (p.Thr72=) rs117711892 0.00058
NM_001040716.2(PC):c.3107G>A (p.Arg1036His) rs141237842 0.00057
NM_001040716.2(PC):c.2319C>T (p.His773=) rs201257475 0.00052
NM_001040716.2(PC):c.2718+9G>A rs201942341 0.00051
NM_001040716.2(PC):c.3391G>A (p.Val1131Met) rs116518022 0.00051
NM_001040716.2(PC):c.486G>A (p.Ala162=) rs142416378 0.00041
NM_001040716.2(PC):c.3258C>G (p.Ser1086=) rs138238125 0.00039
NM_001040716.2(PC):c.2898+20G>A rs144273133 0.00038
NM_001040716.2(PC):c.3147+15C>T rs371879809 0.00038
NM_001040716.2(PC):c.1551C>T (p.Pro517=) rs140746469 0.00031
NM_001040716.2(PC):c.3198C>T (p.Ser1066=) rs144087445 0.00031
NM_001040716.2(PC):c.2577G>A (p.Ser859=) rs199879375 0.00029
NM_001040716.2(PC):c.1401C>T (p.Asn467=) rs45623237 0.00028
NM_001040716.2(PC):c.*15G>A rs45501894 0.00027
NM_001040716.2(PC):c.2325G>A (p.Thr775=) rs371093155 0.00026
NM_001040716.2(PC):c.2748C>T (p.Asp916=) rs149689543 0.00025
NM_001040716.2(PC):c.715A>G (p.Ile239Val) rs148805312 0.00024
NM_001040716.2(PC):c.*373C>T rs189863040 0.00021
NM_001040716.2(PC):c.1446C>T (p.Asp482=) rs145891535 0.00021
NM_001040716.2(PC):c.*353A>G rs557595819 0.00019
NM_001040716.2(PC):c.1266C>T (p.Tyr422=) rs141324828 0.00019
NM_001040716.2(PC):c.1683G>A (p.Pro561=) rs113071273 0.00019
NM_001040716.2(PC):c.2000A>C (p.Lys667Thr) rs138760063 0.00019
NM_001040716.2(PC):c.89G>A (p.Arg30Gln) rs199616332 0.00019
NM_001040716.2(PC):c.1702A>G (p.Thr568Ala) rs199969388 0.00016
NM_001040716.2(PC):c.1716C>T (p.Asp572=) rs577570512 0.00016
NM_001040716.2(PC):c.2804C>T (p.Ala935Val) rs139540331 0.00016
NM_001040716.2(PC):c.786G>T (p.Glu262Asp) rs200030109 0.00015
NM_001040716.2(PC):c.1494A>G (p.Gln498=) rs761935997 0.00014
NM_001040716.2(PC):c.190G>A (p.Val64Ile) rs35698729 0.00014
NM_001040716.2(PC):c.3341C>T (p.Ala1114Val) rs148492494 0.00014
NM_001040716.2(PC):c.571A>G (p.Ile191Val) rs141543771 0.00014
NM_001040716.2(PC):c.1575G>A (p.Thr525=) rs143833575 0.00013
NM_001040716.2(PC):c.843C>T (p.Ala281=) rs150040684 0.00012
NM_001040716.2(PC):c.1640G>A (p.Arg547Gln) rs142036463 0.00011
NM_001040716.2(PC):c.1771G>A (p.Ala591Thr) rs139795235 0.00011
NM_001040716.2(PC):c.2304G>C (p.Leu768=) rs61731787 0.00011
NM_001040716.2(PC):c.2783G>A (p.Arg928Gln) rs755385132 0.00011
NM_001040716.2(PC):c.3473G>A (p.Arg1158His) rs149054698 0.00011
NM_001040716.2(PC):c.904-11C>T rs200473405 0.00011
NM_001040716.2(PC):c.*185G>A rs573667993 0.00010
NM_001040716.2(PC):c.2223+20G>A rs550066048 0.00010
NM_001040716.2(PC):c.2224-14C>T rs780315450 0.00010
NM_001040716.2(PC):c.2586T>C (p.Tyr862=) rs191620803 0.00009
NM_001040716.2(PC):c.2718+14G>A rs745905844 0.00009
NM_001040716.2(PC):c.1874G>A (p.Arg625Gln) rs199568784 0.00008
NM_001040716.2(PC):c.474C>T (p.Ile158=) rs767537673 0.00008
NM_001040716.2(PC):c.1409A>G (p.Gln470Arg) rs940286072 0.00007
NM_001040716.2(PC):c.1513+10G>A rs200660481 0.00007
NM_001040716.2(PC):c.1833G>A (p.Thr611=) rs138796998 0.00007
NM_001040716.2(PC):c.322-10C>T rs371834866 0.00007
NM_001040716.2(PC):c.3321C>T (p.Asp1107=) rs758911778 0.00007
NM_001040716.2(PC):c.50G>A (p.Arg17His) rs375282341 0.00007
NM_001040716.2(PC):c.918C>T (p.Asn306=) rs372125858 0.00007
NM_001040716.2(PC):c.1512C>T (p.Leu504=) rs763298490 0.00006
NM_001040716.2(PC):c.1589C>T (p.Pro530Leu) rs370248734 0.00006
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln) rs113994145 0.00006
NM_001040716.2(PC):c.3042C>T (p.Pro1014=) rs370090137 0.00006
NM_001040716.2(PC):c.3513C>T (p.Asp1171=) rs763623526 0.00006
NM_001040716.2(PC):c.975C>G (p.Val325=) rs374244283 0.00006
NM_001040716.2(PC):c.1023-4A>G rs1294415190 0.00005
NM_001040716.2(PC):c.1149C>T (p.Pro383=) rs942544161 0.00005
NM_001040716.2(PC):c.1233C>T (p.Ser411=) rs747247743 0.00005
NM_001040716.2(PC):c.1317C>T (p.Ala439=) rs772463388 0.00005
NM_001040716.2(PC):c.1368+11G>A rs371731636 0.00005
NM_001040716.2(PC):c.1514-6C>T rs745563711 0.00005
NM_001040716.2(PC):c.1701C>T (p.Asp567=) rs376240725 0.00005
NM_001040716.2(PC):c.2469C>T (p.Asp823=) rs145654496 0.00005
NM_001040716.2(PC):c.2886C>T (p.Pro962=) rs780732004 0.00005
NM_001040716.2(PC):c.3072T>C (p.Thr1024=) rs147432626 0.00005
NM_001040716.2(PC):c.3171G>A (p.Thr1057=) rs147550265 0.00005
NM_001040716.2(PC):c.3192C>T (p.Ala1064=) rs751541124 0.00005
NM_001040716.2(PC):c.751+13G>A rs374607634 0.00005
NM_001040716.2(PC):c.*188G>A rs553630251 0.00004
NM_001040716.2(PC):c.1074C>T (p.Pro358=) rs749417596 0.00004
NM_001040716.2(PC):c.1140C>T (p.Thr380=) rs369657359 0.00004
NM_001040716.2(PC):c.1185+13C>T rs369097493 0.00004
NM_001040716.2(PC):c.1296C>T (p.His432=) rs751412938 0.00004
NM_001040716.2(PC):c.1370C>G (p.Thr457Ser) rs200676705 0.00004
NM_001040716.2(PC):c.1607C>T (p.Pro536Leu) rs751657066 0.00004
NM_001040716.2(PC):c.1614G>A (p.Pro538=) rs35235415 0.00004
NM_001040716.2(PC):c.1704G>A (p.Thr568=) rs549934922 0.00004
NM_001040716.2(PC):c.1767G>T (p.Lys589Asn) rs143725101 0.00004
NM_001040716.2(PC):c.1842C>T (p.Val614=) rs142817472 0.00004
NM_001040716.2(PC):c.2489G>A (p.Arg830His) rs773519800 0.00004
NM_001040716.2(PC):c.258C>T (p.Ile86=) rs982214658 0.00004
NM_001040716.2(PC):c.2899-9G>A rs372755874 0.00004
NM_001040716.2(PC):c.3009G>A (p.Thr1003=) rs377272205 0.00004
NM_001040716.2(PC):c.3137A>G (p.Glu1046Gly) rs771700107 0.00004
NM_001040716.2(PC):c.3147+11C>G rs376612922 0.00004
NM_001040716.2(PC):c.3383G>C (p.Gly1128Ala) rs138990904 0.00004
NM_001040716.2(PC):c.495C>T (p.Pro165=) rs372522645 0.00004
NM_001040716.2(PC):c.561C>T (p.Tyr187=) rs145333590 0.00004
NM_001040716.2(PC):c.879C>T (p.Ser293=) rs183131461 0.00004
NM_001040716.2(PC):c.895G>A (p.Ala299Thr) rs761643820 0.00004
NM_001040716.2(PC):c.904-16G>A rs189690730 0.00004
NM_001040716.2(PC):c.1297G>A (p.Gly433Ser) rs908978048 0.00003
NM_001040716.2(PC):c.1519G>A (p.Val507Ile) rs555210692 0.00003
NM_001040716.2(PC):c.1530C>T (p.Asn510=) rs755162836 0.00003
NM_001040716.2(PC):c.1581C>T (p.Pro527=) rs570919766 0.00003
NM_001040716.2(PC):c.1770C>T (p.Ile590=) rs199923862 0.00003
NM_001040716.2(PC):c.1902C>T (p.Ile634=) rs756874373 0.00003
NM_001040716.2(PC):c.2076G>A (p.Ala692=) rs753064456 0.00003
NM_001040716.2(PC):c.2095G>A (p.Val699Met) rs760108147 0.00003
NM_001040716.2(PC):c.2124C>T (p.Gly708=) rs200488501 0.00003
NM_001040716.2(PC):c.2128G>A (p.Val710Met) rs749176333 0.00003
NM_001040716.2(PC):c.2133C>T (p.Ala711=) rs201327739 0.00003
NM_001040716.2(PC):c.2224-4C>T rs750993796 0.00003
NM_001040716.2(PC):c.2247C>T (p.Pro749=) rs776576677 0.00003
NM_001040716.2(PC):c.264C>T (p.Arg88=) rs757830976 0.00003
NM_001040716.2(PC):c.2703G>A (p.Leu901=) rs187166676 0.00003
NM_001040716.2(PC):c.3064G>A (p.Asp1022Asn) rs747786536 0.00003
NM_001040716.2(PC):c.3336C>T (p.Ile1112=) rs776196411 0.00003
NM_001040716.2(PC):c.3396C>G (p.Ala1132=) rs553914941 0.00003
NM_001040716.2(PC):c.3435G>T (p.Met1145Ile) rs201796252 0.00003
NM_001040716.2(PC):c.3483T>C (p.His1161=) rs190223302 0.00003
NM_001040716.2(PC):c.3514G>A (p.Asp1172Asn) rs568925019 0.00003
NM_001040716.2(PC):c.440G>A (p.Arg147His) rs748987495 0.00003
NM_001040716.2(PC):c.752-5C>T rs770994083 0.00003
NM_001040716.2(PC):c.841G>A (p.Ala281Thr) rs773369359 0.00003
NM_001040716.2(PC):c.*43C>T rs751861809 0.00002
NM_001040716.2(PC):c.1150G>A (p.Ala384Thr) rs1464614105 0.00002
NM_001040716.2(PC):c.1167G>A (p.Pro389=) rs556534486 0.00002
NM_001040716.2(PC):c.1185+14G>A rs375290516 0.00002
NM_001040716.2(PC):c.1353C>T (p.Arg451=) rs542353629 0.00002
NM_001040716.2(PC):c.1354G>A (p.Val452Ile) rs779387492 0.00002
NM_001040716.2(PC):c.1377C>T (p.Ile459=) rs201776268 0.00002
NM_001040716.2(PC):c.1425T>C (p.Thr475=) rs781599048 0.00002
NM_001040716.2(PC):c.1514-13G>A rs773976056 0.00002
NM_001040716.2(PC):c.1650T>C (p.Pro550=) rs1164560956 0.00002
NM_001040716.2(PC):c.1664G>A (p.Arg555Gln) rs148613404 0.00002
NM_001040716.2(PC):c.1690C>T (p.Leu564=) rs1233418840 0.00002
NM_001040716.2(PC):c.1718C>G (p.Ala573Gly) rs1372423236 0.00002
NM_001040716.2(PC):c.171G>A (p.Thr57=) rs373105398 0.00002
NM_001040716.2(PC):c.1755C>T (p.His585=) rs760538194 0.00002
NM_001040716.2(PC):c.1866C>T (p.Cys622=) rs1945519559 0.00002
NM_001040716.2(PC):c.1899C>A (p.Leu633=) rs780830234 0.00002
NM_001040716.2(PC):c.189C>T (p.Thr63=) rs762631892 0.00002
NM_001040716.2(PC):c.1935G>A (p.Gly645=) rs750469404 0.00002
NM_001040716.2(PC):c.1944T>C (p.Ala648=) rs774759089 0.00002
NM_001040716.2(PC):c.1962C>T (p.Tyr654=) rs763471198 0.00002
NM_001040716.2(PC):c.2127C>T (p.Asp709=) rs768324552 0.00002
NM_001040716.2(PC):c.2154C>T (p.Tyr718=) rs1293856380 0.00002
NM_001040716.2(PC):c.2211C>T (p.Ile737=) rs762599900 0.00002
NM_001040716.2(PC):c.228C>T (p.His76=) rs774618137 0.00002
NM_001040716.2(PC):c.24T>C (p.His8=) rs765578958 0.00002
NM_001040716.2(PC):c.2707G>A (p.Asp903Asn) rs758910766 0.00002
NM_001040716.2(PC):c.2890C>T (p.Arg964Cys) rs192822072 0.00002
NM_001040716.2(PC):c.3008C>T (p.Thr1003Met) rs145046106 0.00002
NM_001040716.2(PC):c.3012G>A (p.Pro1004=) rs112030121 0.00002
NM_001040716.2(PC):c.3033T>C (p.Ala1011=) rs139740019 0.00002
NM_001040716.2(PC):c.3034A>G (p.Met1012Val) rs1030212351 0.00002
NM_001040716.2(PC):c.3213C>T (p.Ala1071=) rs774982916 0.00002
NM_001040716.2(PC):c.3214G>A (p.Gly1072Ser) rs768048602 0.00002
NM_001040716.2(PC):c.3242A>G (p.Asn1081Ser) rs745626388 0.00002
NM_001040716.2(PC):c.3327G>A (p.Lys1109=) rs202085529 0.00002
NM_001040716.2(PC):c.3409C>G (p.Leu1137Val) rs777927070 0.00002
NM_001040716.2(PC):c.543C>T (p.His181=) rs139717038 0.00002
NM_001040716.2(PC):c.634-10G>A rs751946688 0.00002
NM_001040716.2(PC):c.783C>T (p.Tyr261=) rs144330590 0.00002
NM_001040716.2(PC):c.837C>T (p.Pro279=) rs369972881 0.00002
NM_001040716.2(PC):c.855G>A (p.Pro285=) rs200478006 0.00002
NM_001040716.2(PC):c.87C>A (p.Val29=) rs777754654 0.00002
NM_001040716.2(PC):c.903+19G>A rs201507432 0.00002
NM_001040716.2(PC):c.969C>T (p.Ile323=) rs752996978 0.00002
NM_001040716.2(PC):c.*161C>T rs886048554 0.00001
NM_001040716.2(PC):c.1-4C>A rs1313846853 0.00001
NM_001040716.2(PC):c.1043del (p.Gln348fs) rs1064796030 0.00001
NM_001040716.2(PC):c.1082G>T (p.Gly361Val) rs377766602 0.00001
NM_001040716.2(PC):c.1088G>A (p.Arg363Gln) rs752041697 0.00001
NM_001040716.2(PC):c.108C>T (p.Pro36=) rs1226912880 0.00001
NM_001040716.2(PC):c.1092G>A (p.Gln364=) rs1192644624 0.00001
NM_001040716.2(PC):c.1098C>T (p.Asn366=) rs775182284 0.00001
NM_001040716.2(PC):c.1110C>T (p.Asn370=) rs776429910 0.00001
NM_001040716.2(PC):c.1152G>A (p.Ala384=) rs373053724 0.00001
NM_001040716.2(PC):c.1153C>T (p.Arg385Cys) rs773109008 0.00001
NM_001040716.2(PC):c.1155C>A (p.Arg385=) rs1179773551 0.00001
NM_001040716.2(PC):c.1173C>T (p.Thr391=) rs202135326 0.00001
NM_001040716.2(PC):c.1185+7G>A rs764854894 0.00001
NM_001040716.2(PC):c.1186-19C>T rs200472867 0.00001
NM_001040716.2(PC):c.1197C>T (p.Ser399=) rs776840589 0.00001
NM_001040716.2(PC):c.1221G>A (p.Leu407=) rs771046930 0.00001
NM_001040716.2(PC):c.1234G>A (p.Ala412Thr) rs773645433 0.00001
NM_001040716.2(PC):c.1248C>T (p.Ala416=) rs372061505 0.00001
NM_001040716.2(PC):c.1257G>A (p.Ser419=) rs1417266857 0.00001
NM_001040716.2(PC):c.1267G>A (p.Asp423Asn) rs1057524862 0.00001
NM_001040716.2(PC):c.1269C>T (p.Asp423=) rs1387760011 0.00001
NM_001040716.2(PC):c.1272C>T (p.Ser424=) rs767255097 0.00001
NM_001040716.2(PC):c.1273C>T (p.Leu425=) rs1397701009 0.00001
NM_001040716.2(PC):c.127G>A (p.Ala43Thr) rs756621649 0.00001
NM_001040716.2(PC):c.1292C>G (p.Ala431Gly) rs796052031 0.00001
NM_001040716.2(PC):c.1299C>G (p.Gly433=) rs763937652 0.00001
NM_001040716.2(PC):c.1311C>G (p.Pro437=) rs766485640 0.00001
NM_001040716.2(PC):c.136+8C>T rs944736105 0.00001
NM_001040716.2(PC):c.136+9C>T rs749948216 0.00001
NM_001040716.2(PC):c.1368+1G>T rs755640269 0.00001
NM_001040716.2(PC):c.1431C>T (p.Asp477=) rs746568602 0.00001
NM_001040716.2(PC):c.1443C>T (p.Ile481=) rs375389054 0.00001
NM_001040716.2(PC):c.1461G>A (p.Leu487=) rs1209304828 0.00001
NM_001040716.2(PC):c.1471C>T (p.Arg491Trp) rs1190212614 0.00001
NM_001040716.2(PC):c.1485C>T (p.Asn495=) rs766290468 0.00001
NM_001040716.2(PC):c.14G>A (p.Arg5Gln) rs753072659 0.00001
NM_001040716.2(PC):c.1503G>A (p.Leu501=) rs200108233 0.00001
NM_001040716.2(PC):c.1514-9T>C rs769129894 0.00001
NM_001040716.2(PC):c.1518T>C (p.His506=) rs781319350 0.00001
NM_001040716.2(PC):c.1524G>A (p.Met508Ile) rs765499560 0.00001
NM_001040716.2(PC):c.1545G>A (p.Pro515=) rs761154786 0.00001
NM_001040716.2(PC):c.159C>T (p.Phe53=) rs749641310 0.00001
NM_001040716.2(PC):c.1603+12C>G rs755182246 0.00001
NM_001040716.2(PC):c.1604-16C>A rs769556316 0.00001
NM_001040716.2(PC):c.1613C>T (p.Pro538Leu) rs151174961 0.00001
NM_001040716.2(PC):c.1620T>C (p.Gly540=) rs781570011 0.00001
NM_001040716.2(PC):c.1647G>A (p.Gly549=) rs763282432 0.00001
NM_001040716.2(PC):c.1663C>T (p.Arg555Ter) rs766242199 0.00001
NM_001040716.2(PC):c.1673G>A (p.Arg558Gln) rs773005705 0.00001
NM_001040716.2(PC):c.1684G>C (p.Gly562Arg) rs746060650 0.00001
NM_001040716.2(PC):c.1713G>A (p.Arg571=) rs924296015 0.00001
NM_001040716.2(PC):c.1719C>T (p.Ala573=) rs1168306694 0.00001
NM_001040716.2(PC):c.1756G>A (p.Asp586Asn) rs371922891 0.00001
NM_001040716.2(PC):c.1826-5T>C rs750069032 0.00001
NM_001040716.2(PC):c.1826-6G>A rs377766432 0.00001
NM_001040716.2(PC):c.1832C>T (p.Thr611Met) rs757071897 0.00001
NM_001040716.2(PC):c.1839C>T (p.Asp613=) rs369234869 0.00001
NM_001040716.2(PC):c.1971C>T (p.Asn657=) rs776137762 0.00001
NM_001040716.2(PC):c.1974G>C (p.Val658=) rs745327162 0.00001
NM_001040716.2(PC):c.1982+10G>A rs373251486 0.00001
NM_001040716.2(PC):c.1983-9C>T rs747875763 0.00001
NM_001040716.2(PC):c.2024G>A (p.Arg675His) rs375528540 0.00001
NM_001040716.2(PC):c.2088C>T (p.Ala696=) rs975494289 0.00001
NM_001040716.2(PC):c.2167T>C (p.Tyr723His) rs1366191657 0.00001
NM_001040716.2(PC):c.2190G>C (p.Leu730=) rs926210262 0.00001
NM_001040716.2(PC):c.2194C>T (p.Arg732Ter) rs112948607 0.00001
NM_001040716.2(PC):c.2195G>A (p.Arg732Gln) rs773872994 0.00001
NM_001040716.2(PC):c.2214G>A (p.Leu738=) rs202134233 0.00001
NM_001040716.2(PC):c.2224-18C>A rs768718604 0.00001
NM_001040716.2(PC):c.2226C>T (p.Asp742=) rs1445463369 0.00001
NM_001040716.2(PC):c.2265G>T (p.Leu755=) rs1226564535 0.00001
NM_001040716.2(PC):c.2268C>T (p.Val756=) rs183729868 0.00001
NM_001040716.2(PC):c.2274C>T (p.Ser758=) rs930022211 0.00001
NM_001040716.2(PC):c.2280G>A (p.Arg760=) rs1322102414 0.00001
NM_001040716.2(PC):c.2292C>T (p.Pro764=) rs757918962 0.00001
NM_001040716.2(PC):c.2365G>C (p.Ala789Pro) rs1945435067 0.00001
NM_001040716.2(PC):c.2409G>A (p.Gly803=) rs778275619 0.00001
NM_001040716.2(PC):c.2473+8G>A rs371135064 0.00001
NM_001040716.2(PC):c.2493G>A (p.Val831=) rs1366257079 0.00001
NM_001040716.2(PC):c.2505T>C (p.Ser835=) rs750588691 0.00001
NM_001040716.2(PC):c.2535C>T (p.Tyr845=) rs534635326 0.00001
NM_001040716.2(PC):c.2574C>T (p.Asn858=) rs753913817 0.00001
NM_001040716.2(PC):c.2589A>G (p.Glu863=) rs767914748 0.00001
NM_001040716.2(PC):c.2637C>T (p.His879=) rs1255657554 0.00001
NM_001040716.2(PC):c.2652C>T (p.Gly884=) rs777576274 0.00001
NM_001040716.2(PC):c.2657A>G (p.Lys886Arg) rs796052027 0.00001
NM_001040716.2(PC):c.2706C>T (p.Gly902=) rs73489729 0.00001
NM_001040716.2(PC):c.2719-11C>A rs767201118 0.00001
NM_001040716.2(PC):c.2724G>A (p.Thr908=) rs573985170 0.00001
NM_001040716.2(PC):c.2727C>T (p.Pro909=) rs1288499682 0.00001
NM_001040716.2(PC):c.2730C>T (p.Ser910=) rs554090254 0.00001
NM_001040716.2(PC):c.2739C>T (p.Ile913=) rs145489836 0.00001
NM_001040716.2(PC):c.2740G>A (p.Val914Met) rs775626599 0.00001
NM_001040716.2(PC):c.2754C>T (p.Ala918=) rs534275006 0.00001
NM_001040716.2(PC):c.2776T>C (p.Leu926=) rs912867186 0.00001
NM_001040716.2(PC):c.2786C>G (p.Ala929Gly) rs565678903 0.00001
NM_001040716.2(PC):c.2793C>T (p.Ala931=) rs749960473 0.00001
NM_001040716.2(PC):c.2805G>A (p.Ala935=) rs1278630981 0.00001
NM_001040716.2(PC):c.2829C>T (p.Ser943=) rs769867981 0.00001
NM_001040716.2(PC):c.2838G>A (p.Glu946=) rs1945378120 0.00001
NM_001040716.2(PC):c.2844G>A (p.Leu948=) rs753274377 0.00001
NM_001040716.2(PC):c.2880C>T (p.Pro960=) rs549991937 0.00001
NM_001040716.2(PC):c.289C>T (p.Leu97=) rs368549197 0.00001
NM_001040716.2(PC):c.2922G>A (p.Val974=) rs752435667 0.00001
NM_001040716.2(PC):c.2976G>A (p.Lys992=) rs368895283 0.00001
NM_001040716.2(PC):c.2997G>A (p.Gly999=) rs1945359016 0.00001
NM_001040716.2(PC):c.3024C>T (p.Leu1008=) rs1418975965 0.00001
NM_001040716.2(PC):c.3043G>A (p.Asp1015Asn) rs746490033 0.00001
NM_001040716.2(PC):c.3078C>T (p.Thr1026=) rs750411329 0.00001
NM_001040716.2(PC):c.3084C>A (p.Gly1028=) rs375994634 0.00001
NM_001040716.2(PC):c.3132C>T (p.Ile1044=) rs771370242 0.00001
NM_001040716.2(PC):c.3147+17C>T rs767447355 0.00001
NM_001040716.2(PC):c.3148-10C>T rs772718644 0.00001
NM_001040716.2(PC):c.3148-14C>T rs773784306 0.00001
NM_001040716.2(PC):c.3177C>T (p.His1059=) rs769512871 0.00001
NM_001040716.2(PC):c.3234T>C (p.Phe1078=) rs531640812 0.00001
NM_001040716.2(PC):c.3262T>C (p.Leu1088=) rs910028001 0.00001
NM_001040716.2(PC):c.3279G>A (p.Gln1093=) rs754942279 0.00001
NM_001040716.2(PC):c.3288+20C>T rs750712278 0.00001
NM_001040716.2(PC):c.3288+9T>A rs1233044534 0.00001
NM_001040716.2(PC):c.331G>A (p.Val111Ile) rs753573264 0.00001
NM_001040716.2(PC):c.3357G>A (p.Lys1119=) rs960938078 0.00001
NM_001040716.2(PC):c.3364G>C (p.Asp1122His) rs745961257 0.00001
NM_001040716.2(PC):c.3429G>T (p.Met1143Ile) rs1057520117 0.00001
NM_001040716.2(PC):c.3504G>A (p.Leu1168=) rs1309122730 0.00001
NM_001040716.2(PC):c.354C>T (p.Tyr118=) rs756061375 0.00001
NM_001040716.2(PC):c.374C>T (p.Ala125Val) rs199678394 0.00001
NM_001040716.2(PC):c.375G>A (p.Ala125=) rs775684836 0.00001
NM_001040716.2(PC):c.381C>T (p.Phe127=) rs367957543 0.00001
NM_001040716.2(PC):c.435G>A (p.Val145=) rs778555357 0.00001
NM_001040716.2(PC):c.462G>A (p.Glu154=) rs1240619530 0.00001
NM_001040716.2(PC):c.467G>A (p.Arg156Gln) rs119103241 0.00001
NM_001040716.2(PC):c.487+7A>G rs766680971 0.00001
NM_001040716.2(PC):c.576C>A (p.Ile192=) rs758308970 0.00001
NM_001040716.2(PC):c.630C>T (p.Tyr210=) rs751914905 0.00001
NM_001040716.2(PC):c.633+2T>C rs763433647 0.00001
NM_001040716.2(PC):c.634-5C>T rs373145902 0.00001
NM_001040716.2(PC):c.63C>T (p.Thr21=) rs1283060530 0.00001
NM_001040716.2(PC):c.642G>A (p.Glu214=) rs1213652361 0.00001
NM_001040716.2(PC):c.64G>A (p.Ala22Thr) rs767170503 0.00001
NM_001040716.2(PC):c.678C>T (p.Ala226=) rs760305529 0.00001
NM_001040716.2(PC):c.679G>A (p.Ala227Thr) rs773004288 0.00001
NM_001040716.2(PC):c.696G>A (p.Ala232=) rs768625636 0.00001
NM_001040716.2(PC):c.717C>T (p.Ile239=) rs568909850 0.00001
NM_001040716.2(PC):c.720G>A (p.Glu240=) rs549056241 0.00001
NM_001040716.2(PC):c.735C>T (p.Ile245=) rs1212408282 0.00001
NM_001040716.2(PC):c.741G>A (p.Val247=) rs753387559 0.00001
NM_001040716.2(PC):c.753G>C (p.Gly251=) rs1351471340 0.00001
NM_001040716.2(PC):c.784G>A (p.Glu262Lys) rs1324553572 0.00001
NM_001040716.2(PC):c.78C>A (p.Ser26=) rs1161512784 0.00001
NM_001040716.2(PC):c.806G>A (p.Arg269Gln) rs1349343839 0.00001
NM_001040716.2(PC):c.819G>A (p.Lys273=) rs780734661 0.00001
NM_001040716.2(PC):c.825C>T (p.Val275=) rs546067067 0.00001
NM_001040716.2(PC):c.894C>T (p.Leu298=) rs369445102 0.00001
NM_001040716.2(PC):c.904-10G>A rs377642026 0.00001
NM_001040716.2(PC):c.912C>T (p.Tyr304=) rs541901384 0.00001
NM_001040716.2(PC):c.920C>T (p.Ala307Val) rs1247838963 0.00001
NM_001040716.2(PC):c.921A>C (p.Ala307=) rs754821702 0.00001
NM_001040716.2(PC):c.927C>T (p.Thr309=) rs373717650 0.00001
NM_001040716.2(PC):c.*101G>A rs561169212
NM_001040716.2(PC):c.*106G>T rs45505701
NM_001040716.2(PC):c.*164dup rs762257488
NM_001040716.2(PC):c.*203T>C rs886048553
NM_001040716.2(PC):c.*88G>A rs1945295941
NM_001040716.2(PC):c.-228+18T>C rs1301376384
NM_001040716.2(PC):c.-228+9C>T rs1555053361
NM_001040716.2(PC):c.1-35661G>T rs1555040359
NM_001040716.2(PC):c.1-37A>C rs781186745
NM_001040716.2(PC):c.1023-13C>A
NM_001040716.2(PC):c.1023-13C>T
NM_001040716.2(PC):c.1023-14C>A rs111858832
NM_001040716.2(PC):c.1023-14C>G rs111858832
NM_001040716.2(PC):c.1023-14C>T
NM_001040716.2(PC):c.1023-14_1023-6del rs2135917623
NM_001040716.2(PC):c.1023-15C>G
NM_001040716.2(PC):c.1023-1G>A rs2135917561
NM_001040716.2(PC):c.1023-5T>G
NM_001040716.2(PC):c.1023C>T (p.Asp341=)
NM_001040716.2(PC):c.1024G>A (p.Val342Ile)
NM_001040716.2(PC):c.1032G>A (p.Leu344=)
NM_001040716.2(PC):c.1038T>C (p.His346=) rs2135917465
NM_001040716.2(PC):c.1042C>T (p.Gln348Ter) rs2135917452
NM_001040716.2(PC):c.1048C>G (p.His350Asp) rs866715653
NM_001040716.2(PC):c.1050C>T (p.His350=) rs770612085
NM_001040716.2(PC):c.1052T>C (p.Val351Ala) rs1261989853
NM_001040716.2(PC):c.105G>A (p.Lys35=)
NM_001040716.2(PC):c.1067_1070delinsTCCACGTGGCTGAGGGCAGGCAG (p.Ser356fs) rs2135917229
NM_001040716.2(PC):c.106_107delinsAGACAGT (p.Pro36fs)
NM_001040716.2(PC):c.1072C>T (p.Pro358Ser)
NM_001040716.2(PC):c.1073C>G (p.Pro358Arg)
NM_001040716.2(PC):c.1075G>A (p.Asp359Asn) rs780215837
NM_001040716.2(PC):c.1084del (p.Leu362fs) rs2135917031
NM_001040716.2(PC):c.1089G>A (p.Arg363=)
NM_001040716.2(PC):c.1093_1095del (p.Glu365del)
NM_001040716.2(PC):c.1095G>A (p.Glu365=)
NM_001040716.2(PC):c.1103G>A (p.Arg368His)
NM_001040716.2(PC):c.1104C>T (p.Arg368=)
NM_001040716.2(PC):c.110T>C (p.Ile37Thr)
NM_001040716.2(PC):c.111C>A (p.Ile37=)
NM_001040716.2(PC):c.111C>G (p.Ile37Met)
NM_001040716.2(PC):c.111C>T (p.Ile37=)
NM_001040716.2(PC):c.1123C>T (p.Gln375Ter) rs1310884700
NM_001040716.2(PC):c.112A>C (p.Lys38Gln)
NM_001040716.2(PC):c.1131G>A (p.Arg377=)
NM_001040716.2(PC):c.1131G>T (p.Arg377=) rs1387922807
NM_001040716.2(PC):c.1132G>T (p.Val378Phe)
NM_001040716.2(PC):c.1140C>A (p.Thr380=) rs369657359
NM_001040716.2(PC):c.1146C>T (p.Asp382=) rs958449027
NM_001040716.2(PC):c.1149C>G (p.Pro383=)
NM_001040716.2(PC):c.1151C>T (p.Ala384Val)
NM_001040716.2(PC):c.1154_1155del (p.Arg385fs) rs1482845179
NM_001040716.2(PC):c.1167G>C (p.Pro389=) rs556534486
NM_001040716.2(PC):c.1168dup (p.Asp390fs) rs1946484568
NM_001040716.2(PC):c.1170C>T (p.Asp390=)
NM_001040716.2(PC):c.1177C>T (p.Arg393Cys)
NM_001040716.2(PC):c.1178G>A (p.Arg393His)
NM_001040716.2(PC):c.1181T>C (p.Ile394Thr) rs1057520687
NM_001040716.2(PC):c.1185+14G>C
NM_001040716.2(PC):c.1185+5_1185+8del rs748620956
NM_001040716.2(PC):c.1186-10C>G
NM_001040716.2(PC):c.1186-12C>A
NM_001040716.2(PC):c.1186-18G>A
NM_001040716.2(PC):c.1186-1G>T rs2135904801
NM_001040716.2(PC):c.1186-5C>T
NM_001040716.2(PC):c.1186-5del
NM_001040716.2(PC):c.1186-8T>A
NM_001040716.2(PC):c.1188G>T (p.Val396=)
NM_001040716.2(PC):c.118G>C (p.Val40Leu) rs2135943669
NM_001040716.2(PC):c.1192C>T (p.Arg398Trp)
NM_001040716.2(PC):c.1194G>C (p.Arg398=)
NM_001040716.2(PC):c.1216C>T (p.Arg406Cys) rs1358651584
NM_001040716.2(PC):c.1217G>A (p.Arg406His)
NM_001040716.2(PC):c.1219C>T (p.Leu407=)
NM_001040716.2(PC):c.1225_1227del (p.Asn409del) rs1555023879
NM_001040716.2(PC):c.1236C>T (p.Ala412=)
NM_001040716.2(PC):c.1249G>A (p.Val417Ile)
NM_001040716.2(PC):c.1251C>T (p.Val417=)
NM_001040716.2(PC):c.1257G>C (p.Ser419=)
NM_001040716.2(PC):c.1293C>A (p.Ala431=)
NM_001040716.2(PC):c.1295A>G (p.His432Arg)
NM_001040716.2(PC):c.1296_1304delinsGGCC (p.His432fs)
NM_001040716.2(PC):c.1308C>T (p.His436=) rs776517996
NM_001040716.2(PC):c.1313C>T (p.Thr438Met)
NM_001040716.2(PC):c.1314G>A (p.Thr438=) rs199877852
NM_001040716.2(PC):c.1323C>A (p.Thr441=) rs2135903937
NM_001040716.2(PC):c.1326G>A (p.Lys442=) rs1458972426
NM_001040716.2(PC):c.1333del (p.Arg445fs)
NM_001040716.2(PC):c.1335G>A (p.Arg445=)
NM_001040716.2(PC):c.1338C>T (p.Ala446=) rs2135903866
NM_001040716.2(PC):c.1339del (p.Ala448fs)
NM_001040716.2(PC):c.1341T>C (p.Leu447=) rs1272780127
NM_001040716.2(PC):c.1343C>T (p.Ala448Val)
NM_001040716.2(PC):c.1344G>T (p.Ala448=)
NM_001040716.2(PC):c.1345G>T (p.Glu449Ter) rs2135903791
NM_001040716.2(PC):c.1351C>T (p.Arg451Cys) rs113994143
NM_001040716.2(PC):c.1352G>A (p.Arg451His)
NM_001040716.2(PC):c.1353C>A (p.Arg451=) rs542353629
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter) rs768514713
NM_001040716.2(PC):c.1358G>A (p.Arg453Gln)
NM_001040716.2(PC):c.136+11G>T
NM_001040716.2(PC):c.136+12T>G rs201652131
NM_001040716.2(PC):c.136+18C>T
NM_001040716.2(PC):c.136+18del
NM_001040716.2(PC):c.136+19G>A
NM_001040716.2(PC):c.136+1G>T
NM_001040716.2(PC):c.136+8C>G rs944736105
NM_001040716.2(PC):c.136+9C>G rs749948216
NM_001040716.2(PC):c.1368+14G>A
NM_001040716.2(PC):c.1368+17C>G
NM_001040716.2(PC):c.1368+17C>T
NM_001040716.2(PC):c.1368+19C>T
NM_001040716.2(PC):c.1368+19del
NM_001040716.2(PC):c.1368+1G>A rs755640269
NM_001040716.2(PC):c.1368+20G>A
NM_001040716.2(PC):c.1368+20G>T
NM_001040716.2(PC):c.1368+20del
NM_001040716.2(PC):c.1368+7G>C rs2135903631
NM_001040716.2(PC):c.1369-15G>A
NM_001040716.2(PC):c.1369-16C>T
NM_001040716.2(PC):c.1369-17C>T
NM_001040716.2(PC):c.1369-1G>C rs2135822173
NM_001040716.2(PC):c.1369-20C>T
NM_001040716.2(PC):c.1369-4G>A rs2135822186
NM_001040716.2(PC):c.1369-5T>C rs2135822203
NM_001040716.2(PC):c.1369-6C>T rs1591127516
NM_001040716.2(PC):c.1369-7C>T rs2135822235
NM_001040716.2(PC):c.1369-8T>A
NM_001040716.2(PC):c.1369-9G>A rs2135822255
NM_001040716.2(PC):c.137-12T>C
NM_001040716.2(PC):c.137-13C>T
NM_001040716.2(PC):c.137-4C>T
NM_001040716.2(PC):c.137-5T>A
NM_001040716.2(PC):c.137-5T>G
NM_001040716.2(PC):c.137-6C>T rs779304016
NM_001040716.2(PC):c.1372A>G (p.Asn458Asp) rs2135822119
NM_001040716.2(PC):c.1383C>T (p.Phe461=)
NM_001040716.2(PC):c.1395G>A (p.Val465=)
NM_001040716.2(PC):c.1395G>T (p.Val465=) rs1945622051
NM_001040716.2(PC):c.1405C>T (p.Gln469Ter)
NM_001040716.2(PC):c.1408C>T (p.Gln470Ter)
NM_001040716.2(PC):c.1413C>T (p.Phe471=)
NM_001040716.2(PC):c.1435C>T (p.Gln479Ter)
NM_001040716.2(PC):c.1458G>A (p.Glu486=) rs2135821279
NM_001040716.2(PC):c.1465del (p.Gln489fs)
NM_001040716.2(PC):c.1470G>A (p.Leu490=)
NM_001040716.2(PC):c.1474C>A (p.Pro492Thr)
NM_001040716.2(PC):c.1476T>C (p.Pro492=) rs1281726180
NM_001040716.2(PC):c.1479A>C (p.Ala493=)
NM_001040716.2(PC):c.1479A>G (p.Ala493=) rs2135821105
NM_001040716.2(PC):c.147C>T (p.Ala49=)
NM_001040716.2(PC):c.1480C>T (p.Gln494Ter) rs1945617407
NM_001040716.2(PC):c.1486C>T (p.Arg496Trp) rs947957837
NM_001040716.2(PC):c.1487_1492del (p.Arg496_Ala497del)
NM_001040716.2(PC):c.1497G>A (p.Lys499=)
NM_001040716.2(PC):c.1509C>T (p.Tyr503=)
NM_001040716.2(PC):c.150C>A (p.Ile50=)
NM_001040716.2(PC):c.1513+10G>C rs200660481
NM_001040716.2(PC):c.1513+14C>T rs1945613813
NM_001040716.2(PC):c.1513+15T>C
NM_001040716.2(PC):c.1513+17C>T
NM_001040716.2(PC):c.1513+18C>T
NM_001040716.2(PC):c.1513+1G>A rs1358550062
NM_001040716.2(PC):c.1513+28CCTCC[2] rs373326379
NM_001040716.2(PC):c.1513+6G>A rs566545355
NM_001040716.2(PC):c.1513+9C>A rs45580638
NM_001040716.2(PC):c.1513+9C>T rs45580638
NM_001040716.2(PC):c.1514-12C>T
NM_001040716.2(PC):c.1514-13G>C
NM_001040716.2(PC):c.1514-14C>T
NM_001040716.2(PC):c.1514-15C>T
NM_001040716.2(PC):c.1514-2A>G rs1945585636
NM_001040716.2(PC):c.1514-7T>A
NM_001040716.2(PC):c.1514-8C>T rs779743894
NM_001040716.2(PC):c.1517A>C (p.His506Pro) rs1565216103
NM_001040716.2(PC):c.1520del (p.Val507fs)
NM_001040716.2(PC):c.1526_1529del (p.Val509fs)
NM_001040716.2(PC):c.1527A>G (p.Val509=)
NM_001040716.2(PC):c.1533_1549del (p.Pro512fs)
NM_001040716.2(PC):c.1536_1537insG (p.Thr513fs)
NM_001040716.2(PC):c.1539C>T (p.Thr513=) rs1251522964
NM_001040716.2(PC):c.1542C>T (p.Thr514=) rs2135817170
NM_001040716.2(PC):c.1544C>T (p.Pro515Leu)
NM_001040716.2(PC):c.1552G>A (p.Val518Ile)
NM_001040716.2(PC):c.1560C>A (p.Ala520=) rs1591125381
NM_001040716.2(PC):c.1560del (p.Ser521fs)
NM_001040716.2(PC):c.1563C>T (p.Ser521=)
NM_001040716.2(PC):c.1564_1565insAG (p.Pro522fs)
NM_001040716.2(PC):c.156G>A (p.Val52=)
NM_001040716.2(PC):c.156dup (p.Phe53fs)
NM_001040716.2(PC):c.1573A>G (p.Thr525Ala)
NM_001040716.2(PC):c.1574C>T (p.Thr525Met)
NM_001040716.2(PC):c.1574del (p.Thr525fs)
NM_001040716.2(PC):c.1575G>T (p.Thr525=) rs143833575
NM_001040716.2(PC):c.1581C>G (p.Pro527=) rs570919766
NM_001040716.2(PC):c.1582G>A (p.Val528Ile)
NM_001040716.2(PC):c.1584T>C (p.Val528=)
NM_001040716.2(PC):c.1596G>A (p.Val532=)
NM_001040716.2(PC):c.1599C>T (p.Pro533=)
NM_001040716.2(PC):c.15A>G (p.Arg5=) rs2135944522
NM_001040716.2(PC):c.1603+17C>T
NM_001040716.2(PC):c.1603+18T>G
NM_001040716.2(PC):c.1603+4G>T rs923731755
NM_001040716.2(PC):c.1604-12T>C
NM_001040716.2(PC):c.1604-13_1604-12del
NM_001040716.2(PC):c.1604-14C>T
NM_001040716.2(PC):c.1604-15C>T
NM_001040716.2(PC):c.1604-4C>T
NM_001040716.2(PC):c.1604-6C>T rs746971709
NM_001040716.2(PC):c.1604-7A>T rs2135815923
NM_001040716.2(PC):c.1604-8T>A
NM_001040716.2(PC):c.1604-9C>T rs1439987432
NM_001040716.2(PC):c.1605C>A (p.Gly535=)
NM_001040716.2(PC):c.160C>T (p.Arg54Trp)
NM_001040716.2(PC):c.1621_1623delinsAT (p.Phe541fs)
NM_001040716.2(PC):c.1628A>G (p.Asp543Gly)
NM_001040716.2(PC):c.1638G>A (p.Leu546=)
NM_001040716.2(PC):c.1638G>T (p.Leu546=)
NM_001040716.2(PC):c.1639C>T (p.Arg547Ter)
NM_001040716.2(PC):c.1646G>A (p.Gly549Glu) rs886048556
NM_001040716.2(PC):c.1668T>G (p.Ala556=) rs1945568303
NM_001040716.2(PC):c.1672C>A (p.Arg558=) rs752901945
NM_001040716.2(PC):c.1672C>T (p.Arg558Trp)
NM_001040716.2(PC):c.1680C>T (p.His560=)
NM_001040716.2(PC):c.1682C>T (p.Pro561Leu)
NM_001040716.2(PC):c.1683G>C (p.Pro561=)
NM_001040716.2(PC):c.1683G>T (p.Pro561=) rs113071273
NM_001040716.2(PC):c.1687C>T (p.Leu563=) rs2135814981
NM_001040716.2(PC):c.1689G>C (p.Leu563=)
NM_001040716.2(PC):c.169A>G (p.Thr57Ala)
NM_001040716.2(PC):c.1702_1706del (p.Thr568fs) rs2135814786
NM_001040716.2(PC):c.1717G>A (p.Ala573Thr) rs796052029
NM_001040716.2(PC):c.1722C>T (p.His574=) rs2135814600
NM_001040716.2(PC):c.1737C>T (p.Ala579=) rs2135814504
NM_001040716.2(PC):c.1741C>T (p.Arg581Cys)
NM_001040716.2(PC):c.1742G>A (p.Arg581His)
NM_001040716.2(PC):c.1745_1746del (p.Val582fs)
NM_001040716.2(PC):c.1747C>T (p.Arg583Cys)
NM_001040716.2(PC):c.1748G>T (p.Arg583Leu) rs119103242
NM_001040716.2(PC):c.177G>A (p.Leu59=)
NM_001040716.2(PC):c.1783G>T (p.Ala595Ser)
NM_001040716.2(PC):c.1791C>T (p.Asn597=)
NM_001040716.2(PC):c.1794C>T (p.Phe598=)
NM_001040716.2(PC):c.1799dup (p.Leu601fs)
NM_001040716.2(PC):c.1803C>G (p.Leu601=)
NM_001040716.2(PC):c.1804T>C (p.Phe602Leu) rs2135813970
NM_001040716.2(PC):c.1806C>T (p.Phe602=)
NM_001040716.2(PC):c.1815G>A (p.Glu605=)
NM_001040716.2(PC):c.1825+10C>T
NM_001040716.2(PC):c.1825+14C>G
NM_001040716.2(PC):c.1825+17C>T
NM_001040716.2(PC):c.1825+18G>A
NM_001040716.2(PC):c.1825+18G>T
NM_001040716.2(PC):c.1825+1G>A rs1565214970
NM_001040716.2(PC):c.1825+2T>G
NM_001040716.2(PC):c.1825+2_1825+5del rs2135813862
NM_001040716.2(PC):c.1825+3A>C rs1945555370
NM_001040716.2(PC):c.1825+7T>C rs2135813847
NM_001040716.2(PC):c.1826-14C>T
NM_001040716.2(PC):c.1826-18C>T
NM_001040716.2(PC):c.1826-1G>C
NM_001040716.2(PC):c.1826-4G>A
NM_001040716.2(PC):c.1826-6G>C
NM_001040716.2(PC):c.1826-8C>T
NM_001040716.2(PC):c.1826-9C>T rs572703070
NM_001040716.2(PC):c.1828G>A (p.Ala610Thr) rs28940589
NM_001040716.2(PC):c.1830C>T (p.Ala610=)
NM_001040716.2(PC):c.1833G>C (p.Thr611=) rs138796998
NM_001040716.2(PC):c.183C>T (p.Ile61=)
NM_001040716.2(PC):c.1843G>A (p.Ala615Thr) rs773466708
NM_001040716.2(PC):c.1843G>T (p.Ala615Ser)
NM_001040716.2(PC):c.1851C>T (p.Arg617=) rs2135810236
NM_001040716.2(PC):c.1857G>A (p.Leu619=)
NM_001040716.2(PC):c.1860T>C (p.Tyr620=)
NM_001040716.2(PC):c.1873C>A (p.Arg625=)
NM_001040716.2(PC):c.1876C>T (p.Arg626Trp) rs1591122325
NM_001040716.2(PC):c.1877G>A (p.Arg626Gln) rs780759271
NM_001040716.2(PC):c.1878G>A (p.Arg626=)
NM_001040716.2(PC):c.1890C>T (p.Leu630=) rs1284772953
NM_001040716.2(PC):c.1891C>T (p.Arg631Trp)
NM_001040716.2(PC):c.1896G>A (p.Glu632=) rs745438957
NM_001040716.2(PC):c.1899C>G (p.Leu633=)
NM_001040716.2(PC):c.1907A>G (p.Asn636Ser)
NM_001040716.2(PC):c.1908C>T (p.Asn636=) rs2135809462
NM_001040716.2(PC):c.1917C>T (p.Phe639=)
NM_001040716.2(PC):c.1918C>T (p.Gln640Ter) rs2135809396
NM_001040716.2(PC):c.1924C>T (p.Leu642=) rs2135809346
NM_001040716.2(PC):c.1929G>A (p.Leu643=)
NM_001040716.2(PC):c.1930C>A (p.Arg644=) rs1468189989
NM_001040716.2(PC):c.1932G>C (p.Arg644=) rs1591122081
NM_001040716.2(PC):c.1937C>G (p.Ala646Gly) rs1565213970
NM_001040716.2(PC):c.1940A>G (p.Asn647Ser)
NM_001040716.2(PC):c.1953C>T (p.Tyr651=) rs1945510204
NM_001040716.2(PC):c.1968C>T (p.Asp656=) rs2135808762
NM_001040716.2(PC):c.196A>G (p.Ile66Val) rs1409511654
NM_001040716.2(PC):c.1972G>A (p.Val658Met)
NM_001040716.2(PC):c.1974G>A (p.Val658=) rs745327162
NM_001040716.2(PC):c.1980del (p.Phe660fs)
NM_001040716.2(PC):c.1982+12G>A
NM_001040716.2(PC):c.1982+13T>G
NM_001040716.2(PC):c.1982+15G>T
NM_001040716.2(PC):c.1982+16G>C
NM_001040716.2(PC):c.1982+17G>A
NM_001040716.2(PC):c.1982+18T>C
NM_001040716.2(PC):c.1982+7C>G
NM_001040716.2(PC):c.1983-10A>G rs2135804777
NM_001040716.2(PC):c.1983-116C>T rs2135805611
NM_001040716.2(PC):c.1983-11C>T
NM_001040716.2(PC):c.1983-15C>G
NM_001040716.2(PC):c.1983-16T>G
NM_001040716.2(PC):c.1983-18G>A
NM_001040716.2(PC):c.1983-18G>C
NM_001040716.2(PC):c.1983-19G>C
NM_001040716.2(PC):c.1983-5T>G
NM_001040716.2(PC):c.1983-7C>G rs2135804751
NM_001040716.2(PC):c.1983-8C>T
NM_001040716.2(PC):c.1989_1990dup (p.Glu664fs)
NM_001040716.2(PC):c.2000A>G (p.Lys667Arg)
NM_001040716.2(PC):c.2004_2005del (p.Asn669fs)
NM_001040716.2(PC):c.200_201del (p.Tyr67fs)
NM_001040716.2(PC):c.2016T>C (p.Asp672=)
NM_001040716.2(PC):c.2019C>A (p.Val673=) rs1591119887
NM_001040716.2(PC):c.2019C>T (p.Val673=) rs1591119887
NM_001040716.2(PC):c.201C>T (p.Tyr67=)
NM_001040716.2(PC):c.2026G>A (p.Val676Met)
NM_001040716.2(PC):c.2031T>C (p.Phe677=) rs2135804499
NM_001040716.2(PC):c.2034C>T (p.Asp678=) rs2135804486
NM_001040716.2(PC):c.2037C>A (p.Ser679=) rs2135804472
NM_001040716.2(PC):c.203C>T (p.Ser68Phe)
NM_001040716.2(PC):c.2040C>T (p.Leu680=) rs1945471644
NM_001040716.2(PC):c.2046C>T (p.Tyr682=)
NM_001040716.2(PC):c.204T>G (p.Ser68=) rs372697822
NM_001040716.2(PC):c.2067C>T (p.Gly689=)
NM_001040716.2(PC):c.2075C>T (p.Ala692Val)
NM_001040716.2(PC):c.2085T>C (p.Ser695=) rs2135804147
NM_001040716.2(PC):c.2100G>T (p.Val700=)
NM_001040716.2(PC):c.2103G>A (p.Glu701=)
NM_001040716.2(PC):c.2113_2114del (p.Ser705fs)
NM_001040716.2(PC):c.2114C>A (p.Ser705Ter) rs113994146
NM_001040716.2(PC):c.2118C>T (p.Tyr706=) rs771659705
NM_001040716.2(PC):c.2121G>C (p.Thr707=)
NM_001040716.2(PC):c.2130G>T (p.Val710=) rs2135803710
NM_001040716.2(PC):c.2134G>A (p.Asp712Asn)
NM_001040716.2(PC):c.2136C>T (p.Asp712=)
NM_001040716.2(PC):c.2139C>T (p.Pro713=) rs1212515265
NM_001040716.2(PC):c.213C>T (p.Asp71=) rs2135942518
NM_001040716.2(PC):c.2142C>G (p.Ser714Arg) rs1945464815
NM_001040716.2(PC):c.2143C>T (p.Arg715Cys) rs1945464671
NM_001040716.2(PC):c.2151G>A (p.Lys717=) rs1591119216
NM_001040716.2(PC):c.2156_2159del (p.Ser719fs) rs2135803326
NM_001040716.2(PC):c.2157A>G (p.Ser719=) rs2135803352
NM_001040716.2(PC):c.215C>T (p.Thr72Met)
NM_001040716.2(PC):c.2160G>A (p.Leu720=) rs1945463615
NM_001040716.2(PC):c.2163G>A (p.Gln721=)
NM_001040716.2(PC):c.2164T>C (p.Tyr722His)
NM_001040716.2(PC):c.216G>C (p.Thr72=) rs117711892
NM_001040716.2(PC):c.2170A>T (p.Met724Leu)
NM_001040716.2(PC):c.2178G>A (p.Leu726=)
NM_001040716.2(PC):c.2181C>T (p.Ala727=) rs761189138
NM_001040716.2(PC):c.2182G>A (p.Glu728Lys) rs193271416
NM_001040716.2(PC):c.2185del (p.Glu729fs)
NM_001040716.2(PC):c.2187G>A (p.Glu729=)
NM_001040716.2(PC):c.2192T>C (p.Val731Ala)
NM_001040716.2(PC):c.2193G>C (p.Val731=)
NM_001040716.2(PC):c.2205C>T (p.Thr735=) rs2135802801
NM_001040716.2(PC):c.2209A>G (p.Ile737Val)
NM_001040716.2(PC):c.220C>T (p.Gln74Ter)
NM_001040716.2(PC):c.2223+11C>G
NM_001040716.2(PC):c.2223+13C>T rs2135802616
NM_001040716.2(PC):c.2223+17T>C
NM_001040716.2(PC):c.2223+18C>T
NM_001040716.2(PC):c.2223+4C>A
NM_001040716.2(PC):c.2223+7G>T
NM_001040716.2(PC):c.2223+8G>A
NM_001040716.2(PC):c.2223+9G>A
NM_001040716.2(PC):c.2224-13C>T
NM_001040716.2(PC):c.2224-13_2224-12del
NM_001040716.2(PC):c.2224-15T>A
NM_001040716.2(PC):c.2224-15T>C
NM_001040716.2(PC):c.2224-16_2224-9dup rs2135801603
NM_001040716.2(PC):c.2224-18C>T
NM_001040716.2(PC):c.2224-20C>G
NM_001040716.2(PC):c.2224-20C>T
NM_001040716.2(PC):c.2224-31TC[10] rs139065746
NM_001040716.2(PC):c.2224-31TC[11] rs139065746
NM_001040716.2(PC):c.2224-31TC[12]
NM_001040716.2(PC):c.2224-31TC[7]
NM_001040716.2(PC):c.2224-31TC[8] rs139065746
NM_001040716.2(PC):c.2224-3del rs1292656088
NM_001040716.2(PC):c.2224-6C>T
NM_001040716.2(PC):c.2224-7C>T rs375657263
NM_001040716.2(PC):c.2224-9T>C
NM_001040716.2(PC):c.2227A>G (p.Met743Val) rs1591118129
NM_001040716.2(PC):c.2229G>T (p.Met743Ile) rs28940590
NM_001040716.2(PC):c.2231C>T (p.Ala744Val) rs1565212112
NM_001040716.2(PC):c.2232C>G (p.Ala744=) rs763631086
NM_001040716.2(PC):c.2232C>T (p.Ala744=) rs763631086
NM_001040716.2(PC):c.2244G>A (p.Lys748=)
NM_001040716.2(PC):c.2250G>A (p.Thr750=) rs760695580
NM_001040716.2(PC):c.2253C>T (p.Ala751=) rs773060730
NM_001040716.2(PC):c.2253del (p.Cys752fs)
NM_001040716.2(PC):c.2256C>T (p.Cys752=) rs1209420938
NM_001040716.2(PC):c.2265G>C (p.Leu755=)
NM_001040716.2(PC):c.2269A>C (p.Ser757Arg)
NM_001040716.2(PC):c.2271C>T (p.Ser757=)
NM_001040716.2(PC):c.2274C>A (p.Ser758=) rs930022211
NM_001040716.2(PC):c.2278C>T (p.Arg760Trp) rs563526275
NM_001040716.2(PC):c.2281G>A (p.Asp761Asn) rs1945442151
NM_001040716.2(PC):c.2285G>A (p.Arg762His)
NM_001040716.2(PC):c.2285G>C (p.Arg762Pro)
NM_001040716.2(PC):c.2292C>G (p.Pro764=) rs757918962
NM_001040716.2(PC):c.2292del (p.Asp765fs)
NM_001040716.2(PC):c.2293G>A (p.Asp765Asn)
NM_001040716.2(PC):c.2298C>A (p.Leu766=) rs2135800527
NM_001040716.2(PC):c.229C>T (p.Arg77Trp) rs928225163
NM_001040716.2(PC):c.2306A>T (p.His769Leu) rs1591117575
NM_001040716.2(PC):c.2320G>A (p.Asp774Asn) rs1453225876
NM_001040716.2(PC):c.2328A>G (p.Ser776=)
NM_001040716.2(PC):c.2328_2329del (p.Ala778fs) rs2135800153
NM_001040716.2(PC):c.2333C>T (p.Ala778Val) rs1272540070
NM_001040716.2(PC):c.2337C>T (p.Gly779=)
NM_001040716.2(PC):c.2338G>T (p.Val780Leu) rs572440768
NM_001040716.2(PC):c.2342C>T (p.Ala781Val) rs2135799932
NM_001040716.2(PC):c.2355C>A (p.Ala785=)
NM_001040716.2(PC):c.2355C>T (p.Ala785=) rs1591117204
NM_001040716.2(PC):c.2359dup (p.Ala787fs)
NM_001040716.2(PC):c.2369del (p.Gly790fs)
NM_001040716.2(PC):c.2379G>A (p.Val793=) rs1002940972
NM_001040716.2(PC):c.2380G>C (p.Val794Leu)
NM_001040716.2(PC):c.2385T>C (p.Asp795=)
NM_001040716.2(PC):c.239_240insCTTGA (p.Asp81fs)
NM_001040716.2(PC):c.2401A>T (p.Met801Leu)
NM_001040716.2(PC):c.240A>G (p.Ala80=)
NM_001040716.2(PC):c.240A>T (p.Ala80=) rs768997498
NM_001040716.2(PC):c.2413_2415delinsTGTATAAGAGACAG (p.Thr805fs)
NM_001040716.2(PC):c.2423C>A (p.Pro808His) rs1591116883
NM_001040716.2(PC):c.2424C>G (p.Pro808=) rs2135798968
NM_001040716.2(PC):c.2433G>T (p.Gly811=) rs2135798894
NM_001040716.2(PC):c.2435C>A (p.Ala812Asp) rs2135798857
NM_001040716.2(PC):c.2436C>T (p.Ala812=)
NM_001040716.2(PC):c.2447G>A (p.Cys816Tyr) rs1235315835
NM_001040716.2(PC):c.2448T>C (p.Cys816=)
NM_001040716.2(PC):c.2453G>C (p.Arg818Thr)
NM_001040716.2(PC):c.2454A>G (p.Arg818=)
NM_001040716.2(PC):c.2457G>A (p.Gly819=)
NM_001040716.2(PC):c.2463C>T (p.Pro821=) rs2135798570
NM_001040716.2(PC):c.2466G>C (p.Leu822=)
NM_001040716.2(PC):c.246A>G (p.Glu82=)
NM_001040716.2(PC):c.2473+10_2473+12del
NM_001040716.2(PC):c.2473+11C>T
NM_001040716.2(PC):c.2473+16G>C
NM_001040716.2(PC):c.2473+18C>T
NM_001040716.2(PC):c.2473+19C>T
NM_001040716.2(PC):c.2473+1G>C rs1304770743
NM_001040716.2(PC):c.2473+20G>A rs776906176
NM_001040716.2(PC):c.2473+20G>T rs776906176
NM_001040716.2(PC):c.2473+2T>C
NM_001040716.2(PC):c.2473+2_2473+5del
NM_001040716.2(PC):c.2473+7A>G rs2135798430
NM_001040716.2(PC):c.2474-10C>T
NM_001040716.2(PC):c.2474-11C>T
NM_001040716.2(PC):c.2474-15_2474-14del
NM_001040716.2(PC):c.2474-16T>C
NM_001040716.2(PC):c.2474-17C>T
NM_001040716.2(PC):c.2474-18_2474-13del
NM_001040716.2(PC):c.2474-22_2474-20del
NM_001040716.2(PC):c.2474-4G>A rs2135796905
NM_001040716.2(PC):c.2474-5T>C rs2135796924
NM_001040716.2(PC):c.2474-9T>C
NM_001040716.2(PC):c.2478G>C (p.Val826=) rs928352255
NM_001040716.2(PC):c.2482A>G (p.Met828Val)
NM_001040716.2(PC):c.248_249insACTCACCCAAGAT (p.Tyr84fs)
NM_001040716.2(PC):c.2490C>A (p.Arg830=) rs373079885
NM_001040716.2(PC):c.2492T>C (p.Val831Ala)
NM_001040716.2(PC):c.2493_2494del (p.Val831_Phe832insTer) rs756355930
NM_001040716.2(PC):c.2494T>A (p.Phe832Ile) rs1945409904
NM_001040716.2(PC):c.249C>T (p.Ala83=)
NM_001040716.2(PC):c.2502C>T (p.Tyr834=)
NM_001040716.2(PC):c.2504G>T (p.Ser835Ile)
NM_001040716.2(PC):c.2511_2531dup (p.Leu844_Tyr845insTrpGluGlyAlaArgGlyLeu)
NM_001040716.2(PC):c.2523T>C (p.Ala841=)
NM_001040716.2(PC):c.2532G>A (p.Leu844=) rs1188416837
NM_001040716.2(PC):c.2532_2533del (p.Tyr845fs)
NM_001040716.2(PC):c.2535C>A (p.Tyr845Ter)
NM_001040716.2(PC):c.2544C>G (p.Phe848Leu) rs1270012365
NM_001040716.2(PC):c.2549G>A (p.Cys850Tyr)
NM_001040716.2(PC):c.2559C>A (p.Thr853=) rs1255691208
NM_001040716.2(PC):c.2559C>T (p.Thr853=)
NM_001040716.2(PC):c.2567C>G (p.Ser856Cys)
NM_001040716.2(PC):c.2568T>G (p.Ser856=) rs2135795793
NM_001040716.2(PC):c.256A>G (p.Ile86Val) rs1946744013
NM_001040716.2(PC):c.2576C>A (p.Ser859Ter)
NM_001040716.2(PC):c.2581del (p.Val861fs) rs2135795582
NM_001040716.2(PC):c.2591dup (p.Asn864fs)
NM_001040716.2(PC):c.2592T>C (p.Asn864=) rs375784582
NM_001040716.2(PC):c.259G>A (p.Gly87Ser)
NM_001040716.2(PC):c.259G>C (p.Gly87Arg) rs770055702
NM_001040716.2(PC):c.2604G>A (p.Gly868=) rs2135795366
NM_001040716.2(PC):c.2605G>A (p.Gly869Ser)
NM_001040716.2(PC):c.2605_2610dup (p.Gly869_Gln870dup) rs1555015012
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp) rs1555015018
NM_001040716.2(PC):c.2606G>C (p.Gly869Ala) rs1555015018
NM_001040716.2(PC):c.2607C>T (p.Gly869=)
NM_001040716.2(PC):c.2613C>A (p.Tyr871Ter)
NM_001040716.2(PC):c.2613C>T (p.Tyr871=)
NM_001040716.2(PC):c.2620C>T (p.Leu874=)
NM_001040716.2(PC):c.2623C>T (p.His875Tyr)
NM_001040716.2(PC):c.2638A>G (p.Ser880Gly)
NM_001040716.2(PC):c.2646G>A (p.Gly882=) rs2135794916
NM_001040716.2(PC):c.2661C>T (p.Phe887=)
NM_001040716.2(PC):c.2667G>A (p.Glu889=)
NM_001040716.2(PC):c.2667G>C (p.Glu889Asp) rs1006994126
NM_001040716.2(PC):c.2668G>T (p.Val890Phe) rs1555014957
NM_001040716.2(PC):c.2674A>T (p.Lys892Ter)
NM_001040716.2(PC):c.2679C>T (p.Ala893=) rs1945398542
NM_001040716.2(PC):c.2685G>A (p.Val895=)
NM_001040716.2(PC):c.2686G>A (p.Glu896Lys)
NM_001040716.2(PC):c.2688G>A (p.Glu896=)
NM_001040716.2(PC):c.2691C>T (p.Ala897=) rs2135794398
NM_001040716.2(PC):c.2695del (p.Gln899fs)
NM_001040716.2(PC):c.2697G>C (p.Gln899His)
NM_001040716.2(PC):c.2705G>A (p.Gly902Asp) rs886048555
NM_001040716.2(PC):c.2711TCA[1] (p.Ile905del) rs1555014903
NM_001040716.2(PC):c.2712C>T (p.Leu904=) rs1315876821
NM_001040716.2(PC):c.2715C>T (p.Ile905=)
NM_001040716.2(PC):c.2718+10G>C
NM_001040716.2(PC):c.2718+12_2718+13dup
NM_001040716.2(PC):c.2718+13C>A
NM_001040716.2(PC):c.2718+13C>T
NM_001040716.2(PC):c.2718+17G>A
NM_001040716.2(PC):c.2718+8C>A rs375215292
NM_001040716.2(PC):c.2718+8C>T rs375215292
NM_001040716.2(PC):c.2718+9G>C rs201942341
NM_001040716.2(PC):c.2719-12C>T
NM_001040716.2(PC):c.2719-13G>A
NM_001040716.2(PC):c.2719-14G>T
NM_001040716.2(PC):c.2719-18C>T
NM_001040716.2(PC):c.2719-19T>G
NM_001040716.2(PC):c.2719-20C>T
NM_001040716.2(PC):c.2719-5C>T
NM_001040716.2(PC):c.2719-5_2719-3del rs566558597
NM_001040716.2(PC):c.2723C>T (p.Thr908Met) rs796052032
NM_001040716.2(PC):c.2727C>G (p.Pro909=)
NM_001040716.2(PC):c.2733C>T (p.Ser911=)
NM_001040716.2(PC):c.2745G>A (p.Gly915=) rs2135792943
NM_001040716.2(PC):c.2746dup (p.Asp916fs)
NM_001040716.2(PC):c.2755C>A (p.Gln919Lys)
NM_001040716.2(PC):c.2766G>A (p.Val922=) rs1591113979
NM_001040716.2(PC):c.276C>G (p.Pro92=) rs1475855830
NM_001040716.2(PC):c.276C>T (p.Pro92=) rs1475855830
NM_001040716.2(PC):c.2772T>C (p.Asn924=)
NM_001040716.2(PC):c.2778G>A (p.Leu926=)
NM_001040716.2(PC):c.2782C>T (p.Arg928Trp)
NM_001040716.2(PC):c.2787A>G (p.Ala929=) rs2135792546
NM_001040716.2(PC):c.2790G>A (p.Glu930=)
NM_001040716.2(PC):c.2793C>G (p.Ala931=) rs749960473
NM_001040716.2(PC):c.279G>T (p.Val93=)
NM_001040716.2(PC):c.2800C>T (p.Gln934Ter)
NM_001040716.2(PC):c.2804_2805del (p.Ala935fs)
NM_001040716.2(PC):c.2805G>T (p.Ala935=)
NM_001040716.2(PC):c.280C>T (p.Gln94Ter)
NM_001040716.2(PC):c.2812C>T (p.Leu938=)
NM_001040716.2(PC):c.2814G>A (p.Leu938=)
NM_001040716.2(PC):c.2817C>T (p.Ser939=)
NM_001040716.2(PC):c.281_282insCCTT (p.Gln94fs)
NM_001040716.2(PC):c.2820T>C (p.Phe940=)
NM_001040716.2(PC):c.2825G>A (p.Arg942His)
NM_001040716.2(PC):c.2826C>A (p.Arg942=)
NM_001040716.2(PC):c.2830G>A (p.Val944Met)
NM_001040716.2(PC):c.2832G>A (p.Val944=)
NM_001040716.2(PC):c.2850C>A (p.Gly950=)
NM_001040716.2(PC):c.2852A>G (p.Tyr951Cys) rs2135791974
NM_001040716.2(PC):c.2862C>T (p.Val954=)
NM_001040716.2(PC):c.2865C>T (p.Pro955=)
NM_001040716.2(PC):c.2866dup (p.His956fs)
NM_001040716.2(PC):c.2868T>C (p.His956=) rs1945375758
NM_001040716.2(PC):c.2874G>A (p.Gly958=) rs1131855
NM_001040716.2(PC):c.2874dup (p.Phe959fs)
NM_001040716.2(PC):c.2876dup (p.Glu961fs) rs1565209327
NM_001040716.2(PC):c.2898+10G>C rs2135791382
NM_001040716.2(PC):c.2898+11C>T
NM_001040716.2(PC):c.2898+12C>G
NM_001040716.2(PC):c.2898+14A>G
NM_001040716.2(PC):c.2898+15G>C
NM_001040716.2(PC):c.2898+17A>G
NM_001040716.2(PC):c.2898+2T>C rs2135791416
NM_001040716.2(PC):c.2898+2_2898+5del
NM_001040716.2(PC):c.2899-14G>C
NM_001040716.2(PC):c.2899-18C>T
NM_001040716.2(PC):c.2899-20T>G
NM_001040716.2(PC):c.2899-3del rs752139338
NM_001040716.2(PC):c.2899-4C>A
NM_001040716.2(PC):c.2899-7T>C
NM_001040716.2(PC):c.2899-9G>C rs372755874
NM_001040716.2(PC):c.2899-9G>T rs372755874
NM_001040716.2(PC):c.2902C>G (p.Leu968Val)
NM_001040716.2(PC):c.2907G>A (p.Lys969=)
NM_001040716.2(PC):c.2913G>A (p.Leu971=)
NM_001040716.2(PC):c.2925G>A (p.Glu975=)
NM_001040716.2(PC):c.2940C>T (p.Ala980=)
NM_001040716.2(PC):c.2942C>T (p.Ser981Phe)
NM_001040716.2(PC):c.2943C>T (p.Ser981=)
NM_001040716.2(PC):c.2946C>T (p.Leu982=) rs2135790495
NM_001040716.2(PC):c.2948C>T (p.Pro983Leu)
NM_001040716.2(PC):c.2948dup (p.Pro984fs)
NM_001040716.2(PC):c.2949T>C (p.Pro983=)
NM_001040716.2(PC):c.2949_2952dup (p.Leu985fs) rs1565209022
NM_001040716.2(PC):c.2952C>G (p.Pro984=)
NM_001040716.2(PC):c.2952C>T (p.Pro984=) rs1945360928
NM_001040716.2(PC):c.2953del (p.Leu985fs) rs2135790424
NM_001040716.2(PC):c.295del (p.Ile99fs)
NM_001040716.2(PC):c.2970G>A (p.Leu990=) rs2062718859
NM_001040716.2(PC):c.2971G>T (p.Glu991Ter)
NM_001040716.2(PC):c.2973G>A (p.Glu991=)
NM_001040716.2(PC):c.2974_2976del (p.Lys992del) rs751225998
NM_001040716.2(PC):c.2976G>C (p.Lys992Asn) rs368895283
NM_001040716.2(PC):c.297C>A (p.Ile99=)
NM_001040716.2(PC):c.297C>T (p.Ile99=)
NM_001040716.2(PC):c.2989C>T (p.Arg997Trp)
NM_001040716.2(PC):c.2990G>A (p.Arg997Gln)
NM_001040716.2(PC):c.2994T>C (p.His998=)
NM_001040716.2(PC):c.3004G>A (p.Val1002Met) rs1289376036
NM_001040716.2(PC):c.3006G>T (p.Val1002=) rs1457181158
NM_001040716.2(PC):c.3008del (p.Thr1003fs)
NM_001040716.2(PC):c.3021G>A (p.Val1007=) rs1945357309
NM_001040716.2(PC):c.3027A>G (p.Ser1009=)
NM_001040716.2(PC):c.3030A>G (p.Ala1010=) rs1591112523
NM_001040716.2(PC):c.3039C>T (p.Tyr1013=) rs1487683285
NM_001040716.2(PC):c.3042C>G (p.Pro1014=)
NM_001040716.2(PC):c.3045T>C (p.Asp1015=) rs1945355490
NM_001040716.2(PC):c.3051T>A (p.Phe1017Leu)
NM_001040716.2(PC):c.3054C>T (p.Ala1018=)
NM_001040716.2(PC):c.3056A>G (p.His1019Arg)
NM_001040716.2(PC):c.3060C>T (p.Phe1020=) rs1439546768
NM_001040716.2(PC):c.3061A>G (p.Lys1021Glu)
NM_001040716.2(PC):c.3066C>T (p.Asp1022=) rs2135789388
NM_001040716.2(PC):c.3067T>C (p.Phe1023Leu)
NM_001040716.2(PC):c.3069C>T (p.Phe1023=) rs753587788
NM_001040716.2(PC):c.306C>T (p.Ile102=)
NM_001040716.2(PC):c.3089del (p.Leu1030fs)
NM_001040716.2(PC):c.309C>T (p.Ile103=)
NM_001040716.2(PC):c.3102_3103dup (p.Thr1035fs)
NM_001040716.2(PC):c.3102dup (p.Thr1035fs) rs2135789146
NM_001040716.2(PC):c.3114C>T (p.Phe1038=)
NM_001040716.2(PC):c.3117G>A (p.Leu1039=) rs759899977
NM_001040716.2(PC):c.3117G>T (p.Leu1039=) rs759899977
NM_001040716.2(PC):c.3119A>G (p.Gln1040Arg)
NM_001040716.2(PC):c.311A>T (p.Lys104Met)
NM_001040716.2(PC):c.3122_3126del (p.Gly1041fs)
NM_001040716.2(PC):c.3127A>G (p.Lys1043Glu) rs1470869408
NM_001040716.2(PC):c.3137_3138del (p.Glu1046fs)
NM_001040716.2(PC):c.3141G>A (p.Glu1047=)
NM_001040716.2(PC):c.3141_3142delinsA (p.Phe1048fs) rs1555014332
NM_001040716.2(PC):c.3146_3147+1del
NM_001040716.2(PC):c.3147+10T>C
NM_001040716.2(PC):c.3147+19T>A
NM_001040716.2(PC):c.3147+2T>C rs2135788673
NM_001040716.2(PC):c.3147+45dup rs368127649
NM_001040716.2(PC):c.3147+7G>C rs1945349703
NM_001040716.2(PC):c.3148-12C>T
NM_001040716.2(PC):c.3148-19C>G
NM_001040716.2(PC):c.3148-4G>A
NM_001040716.2(PC):c.3148-4G>C rs2135786822
NM_001040716.2(PC):c.3148-9T>A
NM_001040716.2(PC):c.3154C>T (p.Leu1052=) rs2135786784
NM_001040716.2(PC):c.3164del (p.Gly1055fs) rs2135786710
NM_001040716.2(PC):c.3165C>A (p.Gly1055=)
NM_001040716.2(PC):c.316G>T (p.Ala106Ser) rs868221703
NM_001040716.2(PC):c.3170C>T (p.Thr1057Met)
NM_001040716.2(PC):c.3170del (p.Thr1057fs)
NM_001040716.2(PC):c.3171G>T (p.Thr1057=)
NM_001040716.2(PC):c.3180C>T (p.Ile1060=) rs745677173
NM_001040716.2(PC):c.3182A>G (p.Lys1061Arg)
NM_001040716.2(PC):c.3187C>T (p.Leu1063=)
NM_001040716.2(PC):c.3189G>A (p.Leu1063=)
NM_001040716.2(PC):c.3190del (p.Ala1064fs) rs2135786512
NM_001040716.2(PC):c.3193G>A (p.Val1065Met)
NM_001040716.2(PC):c.3195G>A (p.Val1065=)
NM_001040716.2(PC):c.3199G>A (p.Asp1067Asn)
NM_001040716.2(PC):c.3207C>T (p.Asn1069=)
NM_001040716.2(PC):c.3208C>T (p.Arg1070Trp)
NM_001040716.2(PC):c.3209G>A (p.Arg1070Gln)
NM_001040716.2(PC):c.321+10G>C
NM_001040716.2(PC):c.321+11T>A
NM_001040716.2(PC):c.321+12G>C rs2135941845
NM_001040716.2(PC):c.321+13G>A
NM_001040716.2(PC):c.321+19C>G
NM_001040716.2(PC):c.321+1G>T rs2135941937
NM_001040716.2(PC):c.321+20T>C
NM_001040716.2(PC):c.321+8C>T
NM_001040716.2(PC):c.321+9A>G
NM_001040716.2(PC):c.3212C>G (p.Ala1071Gly) rs149583113
NM_001040716.2(PC):c.3213C>G (p.Ala1071=)
NM_001040716.2(PC):c.3216C>T (p.Gly1072=)
NM_001040716.2(PC):c.322-12C>T
NM_001040716.2(PC):c.322-16T>G
NM_001040716.2(PC):c.322-17C>T
NM_001040716.2(PC):c.322-2A>G rs2135940951
NM_001040716.2(PC):c.322-4G>T
NM_001040716.2(PC):c.322-8A>G rs778409831
NM_001040716.2(PC):c.322-9dup rs2135941001
NM_001040716.2(PC):c.3222G>A (p.Arg1074=)
NM_001040716.2(PC):c.3225G>A (p.Gln1075=) rs933670600
NM_001040716.2(PC):c.3228C>T (p.Val1076=)
NM_001040716.2(PC):c.3228CTT[1] (p.Phe1078del) rs1555014068
NM_001040716.2(PC):c.3237G>A (p.Glu1079=) rs1447561812
NM_001040716.2(PC):c.3240C>T (p.Leu1080=) rs1591110612
NM_001040716.2(PC):c.3246G>A (p.Gly1082=) rs2135785870
NM_001040716.2(PC):c.3249G>A (p.Gln1083=) rs374682909
NM_001040716.2(PC):c.3249G>T (p.Gln1083His)
NM_001040716.2(PC):c.324G>A (p.Glu108=) rs2135940927
NM_001040716.2(PC):c.3258C>T (p.Ser1086=)
NM_001040716.2(PC):c.3267C>T (p.Val1089=) rs746903912
NM_001040716.2(PC):c.327C>T (p.Asn109=) rs2135940914
NM_001040716.2(PC):c.3283A>G (p.Met1095Val)
NM_001040716.2(PC):c.3284dup (p.Met1095fs)
NM_001040716.2(PC):c.3288+10C>T
NM_001040716.2(PC):c.3288+11C>A
NM_001040716.2(PC):c.3288+12C>G
NM_001040716.2(PC):c.3288+13C>T
NM_001040716.2(PC):c.3288+14C>T
NM_001040716.2(PC):c.3288+14del
NM_001040716.2(PC):c.3288+16G>A
NM_001040716.2(PC):c.3288+16G>C rs1591110269
NM_001040716.2(PC):c.3288+17G>A
NM_001040716.2(PC):c.3288+1G>A
NM_001040716.2(PC):c.3288+1G>T rs2135785399
NM_001040716.2(PC):c.3288+2T>C rs2135785388
NM_001040716.2(PC):c.3288+4T>C
NM_001040716.2(PC):c.3288+5T>C rs1945323792
NM_001040716.2(PC):c.3288+8C>T rs2135785319
NM_001040716.2(PC):c.3289-10G>A
NM_001040716.2(PC):c.3289-10G>C rs529411023
NM_001040716.2(PC):c.3289-10G>T
NM_001040716.2(PC):c.3289-11T>C
NM_001040716.2(PC):c.3289-12C>T
NM_001040716.2(PC):c.3289-17C>T
NM_001040716.2(PC):c.3289-20C>T
NM_001040716.2(PC):c.3289-23_3289-20dup
NM_001040716.2(PC):c.3289-8del rs2135784540
NM_001040716.2(PC):c.3297C>T (p.His1099=) rs781571109
NM_001040716.2(PC):c.329dup (p.Asn110fs)
NM_001040716.2(PC):c.3306dup (p.Lys1103fs) rs1324931037
NM_001040716.2(PC):c.3309G>A (p.Lys1103=)
NM_001040716.2(PC):c.330C>T (p.Asn110=)
NM_001040716.2(PC):c.3312C>T (p.Ala1104=)
NM_001040716.2(PC):c.3316A>T (p.Lys1106Ter)
NM_001040716.2(PC):c.3318G>A (p.Lys1106=) rs2135784251
NM_001040716.2(PC):c.3324G>A (p.Val1108=)
NM_001040716.2(PC):c.3328G>A (p.Gly1110Ser)
NM_001040716.2(PC):c.3336C>A (p.Ile1112=) rs776196411
NM_001040716.2(PC):c.3337G>A (p.Gly1113Arg)
NM_001040716.2(PC):c.3342G>T (p.Ala1114=)
NM_001040716.2(PC):c.3344C>T (p.Pro1115Leu) rs2135783978
NM_001040716.2(PC):c.3359_3362dup (p.Ile1123fs) rs1555013840
NM_001040716.2(PC):c.3360G>A (p.Val1120=)
NM_001040716.2(PC):c.3362_3363del (p.Ile1121fs)
NM_001040716.2(PC):c.3369C>T (p.Ile1123=)
NM_001040716.2(PC):c.336T>C (p.Asp112=)
NM_001040716.2(PC):c.3375G>C (p.Val1125=) rs1945311797
NM_001040716.2(PC):c.3377_3392del (p.Val1126fs)
NM_001040716.2(PC):c.3378G>A (p.Val1126=) rs753201697
NM_001040716.2(PC):c.3378G>C (p.Val1126=) rs753201697
NM_001040716.2(PC):c.3380C>T (p.Ala1127Val) rs200217380
NM_001040716.2(PC):c.3384G>A (p.Gly1128=) rs145167276
NM_001040716.2(PC):c.3384G>T (p.Gly1128=)
NM_001040716.2(PC):c.3386C>T (p.Ala1129Val)
NM_001040716.2(PC):c.3387C>G (p.Ala1129=) rs761578681
NM_001040716.2(PC):c.3387C>T (p.Ala1129=)
NM_001040716.2(PC):c.3387del (p.Lys1130fs) rs2135783409
NM_001040716.2(PC):c.3389A>G (p.Lys1130Arg)
NM_001040716.2(PC):c.3390G>A (p.Lys1130=) rs200166901
NM_001040716.2(PC):c.3394G>A (p.Ala1132Thr)
NM_001040716.2(PC):c.3394G>T (p.Ala1132Ser)
NM_001040716.2(PC):c.3396C>T (p.Ala1132=)
NM_001040716.2(PC):c.3399G>A (p.Lys1133=) rs776825183
NM_001040716.2(PC):c.339A>C (p.Ala113=)
NM_001040716.2(PC):c.339A>G (p.Ala113=)
NM_001040716.2(PC):c.3405G>A (p.Gln1135=) rs747244374
NM_001040716.2(PC):c.3409_3410del (p.Leu1137fs) rs113994148
NM_001040716.2(PC):c.3414T>C (p.Cys1138=) rs2135782929
NM_001040716.2(PC):c.342_343insTTATATT (p.His115fs)
NM_001040716.2(PC):c.3432G>A (p.Lys1144=)
NM_001040716.2(PC):c.3441T>C (p.Thr1147=)
NM_001040716.2(PC):c.3442G>T (p.Val1148Leu) rs1298569042
NM_001040716.2(PC):c.3444G>A (p.Val1148=)
NM_001040716.2(PC):c.3447G>C (p.Val1149=)
NM_001040716.2(PC):c.3450C>G (p.Thr1150=)
NM_001040716.2(PC):c.3450C>T (p.Thr1150=)
NM_001040716.2(PC):c.3453A>T (p.Ser1151=) rs571513074
NM_001040716.2(PC):c.3457A>G (p.Met1153Val)
NM_001040716.2(PC):c.345C>T (p.His115=) rs2135940811
NM_001040716.2(PC):c.3462G>A (p.Glu1154=)
NM_001040716.2(PC):c.3462G>C (p.Glu1154Asp) rs373287823
NM_001040716.2(PC):c.3463G>A (p.Gly1155Ser)
NM_001040716.2(PC):c.3472C>T (p.Arg1158Cys)
NM_001040716.2(PC):c.3474C>A (p.Arg1158=)
NM_001040716.2(PC):c.3475A>G (p.Lys1159Glu)
NM_001040716.2(PC):c.3477G>A (p.Lys1159=)
NM_001040716.2(PC):c.3489C>G (p.Thr1163=) rs2135782288
NM_001040716.2(PC):c.3492G>A (p.Lys1164=)
NM_001040716.2(PC):c.3493G>T (p.Asp1165Tyr)
NM_001040716.2(PC):c.3496A>G (p.Met1166Val) rs1945302855
NM_001040716.2(PC):c.3497T>C (p.Met1166Thr)
NM_001040716.2(PC):c.3501A>G (p.Thr1167=) rs2135782194
NM_001040716.2(PC):c.3514G>T (p.Asp1172Tyr)
NM_001040716.2(PC):c.3519C>T (p.Leu1173=) rs2135781997
NM_001040716.2(PC):c.3520A>C (p.Ile1174Leu) rs879255351
NM_001040716.2(PC):c.3522C>T (p.Ile1174=)
NM_001040716.2(PC):c.3526G>A (p.Glu1176Lys)
NM_001040716.2(PC):c.3528G>A (p.Glu1176=)
NM_001040716.2(PC):c.3531C>A (p.Ile1177=) rs144982348
NM_001040716.2(PC):c.3531C>T (p.Ile1177=) rs144982348
NM_001040716.2(PC):c.357G>A (p.Gly119=) rs2135940780
NM_001040716.2(PC):c.364del (p.Ser122fs)
NM_001040716.2(PC):c.366dup (p.Glu123Ter) rs2135940752
NM_001040716.2(PC):c.370C>T (p.Arg124Ter)
NM_001040716.2(PC):c.372_375del (p.Ala125fs) rs1565245427
NM_001040716.2(PC):c.396G>A (p.Gln132=) rs776845894
NM_001040716.2(PC):c.39C>G (p.Leu13=) rs1440597243
NM_001040716.2(PC):c.39C>T (p.Leu13=)
NM_001040716.2(PC):c.408C>T (p.Val136=)
NM_001040716.2(PC):c.410G>A (p.Arg137Gln)
NM_001040716.2(PC):c.410G>T (p.Arg137Leu) rs772619045
NM_001040716.2(PC):c.420G>C (p.Gly140=)
NM_001040716.2(PC):c.420G>T (p.Gly140=)
NM_001040716.2(PC):c.426C>T (p.Ser142=) rs1184131560
NM_001040716.2(PC):c.429A>G (p.Pro143=) rs2135940395
NM_001040716.2(PC):c.42G>C (p.Leu14=) rs2135944286
NM_001040716.2(PC):c.434T>C (p.Val145Ala) rs28940591
NM_001040716.2(PC):c.439C>G (p.Arg147Gly) rs529087425
NM_001040716.2(PC):c.439C>T (p.Arg147Cys)
NM_001040716.2(PC):c.446T>C (p.Met149Thr)
NM_001040716.2(PC):c.449_451dup (p.Gly150dup) rs1946724126
NM_001040716.2(PC):c.44del (p.Gly15fs)
NM_001040716.2(PC):c.465C>G (p.Ala155=) rs1336829179
NM_001040716.2(PC):c.465C>T (p.Ala155=) rs1336829179
NM_001040716.2(PC):c.485C>T (p.Ala162Val) rs752714051
NM_001040716.2(PC):c.487+11C>A
NM_001040716.2(PC):c.487+11C>T
NM_001040716.2(PC):c.488-17C>T
NM_001040716.2(PC):c.488-20C>T
NM_001040716.2(PC):c.488-6C>A
NM_001040716.2(PC):c.488-6C>T rs2135939606
NM_001040716.2(PC):c.488-8C>T
NM_001040716.2(PC):c.492T>A (p.Val164=)
NM_001040716.2(PC):c.516C>T (p.Ala172=) rs1946715352
NM_001040716.2(PC):c.519C>G (p.Pro173=)
NM_001040716.2(PC):c.525G>A (p.Thr175=) rs370278016
NM_001040716.2(PC):c.525G>C (p.Thr175=) rs370278016
NM_001040716.2(PC):c.52C>T (p.Arg18Ter) rs144583275
NM_001040716.2(PC):c.531G>A (p.Leu177=) rs2135939413
NM_001040716.2(PC):c.537G>A (p.Glu179=)
NM_001040716.2(PC):c.53G>A (p.Arg18Gln)
NM_001040716.2(PC):c.551C>G (p.Ser184Cys)
NM_001040716.2(PC):c.552C>T (p.Ser184=) rs1591188749
NM_001040716.2(PC):c.562G>A (p.Gly188Ser)
NM_001040716.2(PC):c.563G>T (p.Gly188Val) rs1946713663
NM_001040716.2(PC):c.564C>T (p.Gly188=)
NM_001040716.2(PC):c.567C>T (p.Phe189=) rs746873070
NM_001040716.2(PC):c.570C>T (p.Pro190=) rs1946713427
NM_001040716.2(PC):c.584C>T (p.Ala195Val) rs1436643226
NM_001040716.2(PC):c.585G>A (p.Ala195=)
NM_001040716.2(PC):c.585G>C (p.Ala195=) rs375925670
NM_001040716.2(PC):c.585G>T (p.Ala195=) rs375925670
NM_001040716.2(PC):c.593_612del (p.Gly198fs)
NM_001040716.2(PC):c.597T>A (p.Gly199=) rs1946712107
NM_001040716.2(PC):c.597_606delinsAA (p.Gly200fs)
NM_001040716.2(PC):c.600A>C (p.Gly200=)
NM_001040716.2(PC):c.60C>T (p.Ser20=) rs1591192392
NM_001040716.2(PC):c.610A>C (p.Met204Leu)
NM_001040716.2(PC):c.615G>A (p.Arg205=) rs2135939020
NM_001040716.2(PC):c.618G>A (p.Val206=) rs2135938987
NM_001040716.2(PC):c.624C>T (p.His208=)
NM_001040716.2(PC):c.633+16C>T
NM_001040716.2(PC):c.633+38_633+58del rs1213292231
NM_001040716.2(PC):c.633+8A>G
NM_001040716.2(PC):c.634-11C>T
NM_001040716.2(PC):c.634-12C>G
NM_001040716.2(PC):c.634-14G>C
NM_001040716.2(PC):c.634-14G>T
NM_001040716.2(PC):c.634-17C>G
NM_001040716.2(PC):c.634-17C>T
NM_001040716.2(PC):c.634-1G>A
NM_001040716.2(PC):c.634-4G>A rs368096991
NM_001040716.2(PC):c.634-4G>C
NM_001040716.2(PC):c.634-4G>T rs368096991
NM_001040716.2(PC):c.634-7C>G
NM_001040716.2(PC):c.639G>A (p.Leu213=)
NM_001040716.2(PC):c.651C>T (p.Tyr217=)
NM_001040716.2(PC):c.655C>A (p.Arg219=)
NM_001040716.2(PC):c.662A>T (p.Tyr221Phe)
NM_001040716.2(PC):c.667G>C (p.Glu223Gln)
NM_001040716.2(PC):c.66C>A (p.Ala22=) rs1294478419
NM_001040716.2(PC):c.66C>T (p.Ala22=) rs1294478419
NM_001040716.2(PC):c.675G>A (p.Leu225=)
NM_001040716.2(PC):c.681C>A (p.Ala227=) rs375016949
NM_001040716.2(PC):c.681C>T (p.Ala227=)
NM_001040716.2(PC):c.696G>T (p.Ala232=)
NM_001040716.2(PC):c.699G>A (p.Leu233=)
NM_001040716.2(PC):c.69C>G (p.Pro23=) rs758030072
NM_001040716.2(PC):c.69C>T (p.Pro23=) rs758030072
NM_001040716.2(PC):c.6G>A (p.Leu2=)
NM_001040716.2(PC):c.706G>T (p.Glu236Ter)
NM_001040716.2(PC):c.710A>C (p.Lys237Thr)
NM_001040716.2(PC):c.723G>A (p.Lys241=) rs2135937673
NM_001040716.2(PC):c.731_732insGGCTTGGGATGGAG (p.His244fs)
NM_001040716.2(PC):c.732C>T (p.His244=) rs1322118579
NM_001040716.2(PC):c.736G>A (p.Glu246Lys)
NM_001040716.2(PC):c.747C>T (p.Ile249=) rs566631933
NM_001040716.2(PC):c.751+10C>T
NM_001040716.2(PC):c.751+11C>A
NM_001040716.2(PC):c.751+15C>A
NM_001040716.2(PC):c.751+15C>T rs202075789
NM_001040716.2(PC):c.751+16G>A
NM_001040716.2(PC):c.751+17C>T
NM_001040716.2(PC):c.751+20C>G
NM_001040716.2(PC):c.751+20C>T
NM_001040716.2(PC):c.751+4A>G rs2135937467
NM_001040716.2(PC):c.751+8G>C
NM_001040716.2(PC):c.752-10C>A
NM_001040716.2(PC):c.752-12C>G
NM_001040716.2(PC):c.752-13C>T
NM_001040716.2(PC):c.752-4C>A rs760649111
NM_001040716.2(PC):c.752-4C>T rs760649111
NM_001040716.2(PC):c.752-6C>G
NM_001040716.2(PC):c.752-8C>T rs2135936097
NM_001040716.2(PC):c.756C>T (p.Asp252=)
NM_001040716.2(PC):c.75C>T (p.Ala25=) rs886048557
NM_001040716.2(PC):c.764_765del (p.Gly255fs)
NM_001040716.2(PC):c.765G>A (p.Gly255=)
NM_001040716.2(PC):c.765G>C (p.Gly255=) rs1377525533
NM_001040716.2(PC):c.768C>T (p.Asn256=) rs2135935982
NM_001040716.2(PC):c.771C>T (p.Ile257=) rs2135935969
NM_001040716.2(PC):c.774G>C (p.Leu258=) rs2135935956
NM_001040716.2(PC):c.77C>T (p.Ser26Phe) rs2135943988
NM_001040716.2(PC):c.786G>A (p.Glu262=) rs200030109
NM_001040716.2(PC):c.787C>A (p.Arg263=)
NM_001040716.2(PC):c.788G>A (p.Arg263Gln) rs769177104
NM_001040716.2(PC):c.789A>T (p.Arg263=) rs1946677605
NM_001040716.2(PC):c.78C>T (p.Ser26=)
NM_001040716.2(PC):c.795C>T (p.Cys265=) rs1484456027
NM_001040716.2(PC):c.796T>G (p.Ser266Ala) rs113994142
NM_001040716.2(PC):c.797C>A (p.Ser266Tyr) rs796052030
NM_001040716.2(PC):c.804G>A (p.Gln268=)
NM_001040716.2(PC):c.810G>A (p.Arg270=)
NM_001040716.2(PC):c.815A>G (p.Gln272Arg) rs1591186383
NM_001040716.2(PC):c.820G>A (p.Val274Met)
NM_001040716.2(PC):c.831T>C (p.Ile277=)
NM_001040716.2(PC):c.834C>A (p.Ala278=) rs2135935377
NM_001040716.2(PC):c.838G>A (p.Ala280Thr) rs752585997
NM_001040716.2(PC):c.838_844del (p.Ala280fs)
NM_001040716.2(PC):c.840C>A (p.Ala280=)
NM_001040716.2(PC):c.840C>T (p.Ala280=) rs376393322
NM_001040716.2(PC):c.846C>A (p.His282Gln)
NM_001040716.2(PC):c.861T>C (p.Leu287=) rs2135935162
NM_001040716.2(PC):c.863G>A (p.Arg288Gln)
NM_001040716.2(PC):c.885T>C (p.Ser295=) rs1320318568
NM_001040716.2(PC):c.885_888del (p.Val296fs)
NM_001040716.2(PC):c.888G>A (p.Val296=) rs1342125656
NM_001040716.2(PC):c.88C>T (p.Arg30Trp)
NM_001040716.2(PC):c.88del (p.Arg30fs)
NM_001040716.2(PC):c.894C>G (p.Leu298=)
NM_001040716.2(PC):c.897T>C (p.Ala299=) rs2135934934
NM_001040716.2(PC):c.903+18C>T
NM_001040716.2(PC):c.903+20T>C
NM_001040716.2(PC):c.903+2T>A rs1946669738
NM_001040716.2(PC):c.904-12C>T
NM_001040716.2(PC):c.904-4A>G
NM_001040716.2(PC):c.904-4A>T
NM_001040716.2(PC):c.904-5dup rs2135929887
NM_001040716.2(PC):c.904-9C>T
NM_001040716.2(PC):c.908del (p.Gly303fs)
NM_001040716.2(PC):c.913G>A (p.Glu305Lys)
NM_001040716.2(PC):c.913G>T (p.Glu305Ter) rs1487446205
NM_001040716.2(PC):c.915G>C (p.Glu305Asp)
NM_001040716.2(PC):c.928G>A (p.Val310Met)
NM_001040716.2(PC):c.92G>A (p.Arg31His)
NM_001040716.2(PC):c.930G>C (p.Val310=)
NM_001040716.2(PC):c.933G>A (p.Glu311=)
NM_001040716.2(PC):c.948G>A (p.Arg316=) rs2135929486
NM_001040716.2(PC):c.952G>A (p.Gly318Ser)
NM_001040716.2(PC):c.954C>A (p.Gly318=)
NM_001040716.2(PC):c.954C>G (p.Gly318=) rs370324997
NM_001040716.2(PC):c.966C>T (p.Phe322=)
NM_001040716.2(PC):c.96G>A (p.Leu32=) rs1057520946
NM_001040716.2(PC):c.972G>A (p.Glu324=)
NM_001040716.2(PC):c.978C>T (p.Asn326=)
NM_001040716.2(PC):c.982C>G (p.Arg328Gly)
NM_001040716.2(PC):c.98A>T (p.Glu33Val) rs1555027633
NM_022172.2(PC):c.[2095G>A];[2095G>T]
t(1;11)(p36.32;q13.2)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.