ClinVar Miner

List of variants in gene PC reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 890
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HGVS dbSNP gnomAD frequency
NM_001040716.2(PC):c.3342G>A (p.Ala1114=) rs141978731 0.00088
NM_001040716.2(PC):c.2550C>T (p.Cys850=) rs61749179 0.00080
NM_001040716.2(PC):c.496G>A (p.Val166Ile) rs147697454 0.00060
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.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.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.1446C>T (p.Asp482=) rs145891535 0.00021
NM_001040716.2(PC):c.1266C>T (p.Tyr422=) rs141324828 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.1716C>T (p.Asp572=) rs577570512 0.00016
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.2304G>C (p.Leu768=) rs61731787 0.00011
NM_001040716.2(PC):c.2783G>A (p.Arg928Gln) rs755385132 0.00011
NM_001040716.2(PC):c.904-11C>T rs200473405 0.00011
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.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.1513+10G>A rs200660481 0.00007
NM_001040716.2(PC):c.1833G>A (p.Thr611=) rs138796998 0.00007
NM_001040716.2(PC):c.3321C>T (p.Asp1107=) rs758911778 0.00007
NM_001040716.2(PC):c.918C>T (p.Asn306=) rs372125858 0.00007
NM_001040716.2(PC):c.1589C>T (p.Pro530Leu) rs370248734 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.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.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.3147+11C>G rs376612922 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.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.2124C>T (p.Gly708=) rs200488501 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.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.1185+14G>A rs375290516 0.00002
NM_001040716.2(PC):c.1353C>T (p.Arg451=) rs542353629 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.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.3012G>A (p.Pro1004=) rs112030121 0.00002
NM_001040716.2(PC):c.3033T>C (p.Ala1011=) rs139740019 0.00002
NM_001040716.2(PC):c.3213C>T (p.Ala1071=) rs774982916 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.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.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.1248C>T (p.Ala416=) rs372061505 0.00001
NM_001040716.2(PC):c.1257G>A (p.Ser419=) rs1417266857 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.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.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.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.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.1620T>C (p.Gly540=) rs781570011 0.00001
NM_001040716.2(PC):c.1647G>A (p.Gly549=) rs763282432 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.1826-5T>C rs750069032 0.00001
NM_001040716.2(PC):c.1826-6G>A rs377766432 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.2088C>T (p.Ala696=) rs975494289 0.00001
NM_001040716.2(PC):c.2190G>C (p.Leu730=) rs926210262 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.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.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.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.2754C>T (p.Ala918=) rs534275006 0.00001
NM_001040716.2(PC):c.2776T>C (p.Leu926=) rs912867186 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.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.3357G>A (p.Lys1119=) rs960938078 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.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.576C>A (p.Ile192=) rs758308970 0.00001
NM_001040716.2(PC):c.630C>T (p.Tyr210=) rs751914905 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.678C>T (p.Ala226=) rs760305529 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.78C>A (p.Ser26=) rs1161512784 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.921A>C (p.Ala307=) rs754821702 0.00001
NM_001040716.2(PC):c.927C>T (p.Thr309=) rs373717650 0.00001
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>T
NM_001040716.2(PC):c.1023-14_1023-6del rs2135917623
NM_001040716.2(PC):c.1023-15C>G
NM_001040716.2(PC):c.1023-5T>G
NM_001040716.2(PC):c.1032G>A (p.Leu344=)
NM_001040716.2(PC):c.1038T>C (p.His346=) rs2135917465
NM_001040716.2(PC):c.1050C>T (p.His350=) rs770612085
NM_001040716.2(PC):c.105G>A (p.Lys35=)
NM_001040716.2(PC):c.1072C>T (p.Pro358Ser)
NM_001040716.2(PC):c.1075G>A (p.Asp359Asn) rs780215837
NM_001040716.2(PC):c.1089G>A (p.Arg363=)
NM_001040716.2(PC):c.1095G>A (p.Glu365=)
NM_001040716.2(PC):c.1104C>T (p.Arg368=)
NM_001040716.2(PC):c.111C>A (p.Ile37=)
NM_001040716.2(PC):c.111C>T (p.Ile37=)
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.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.1167G>C (p.Pro389=) rs556534486
NM_001040716.2(PC):c.1170C>T (p.Asp390=)
NM_001040716.2(PC):c.1185+14G>C
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.1186-5C>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.1194G>C (p.Arg398=)
NM_001040716.2(PC):c.1219C>T (p.Leu407=)
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.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.1335G>A (p.Arg445=)
NM_001040716.2(PC):c.1338C>T (p.Ala446=) rs2135903866
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.1353C>A (p.Arg451=) rs542353629
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+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+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.1369-20C>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.1369-9G>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.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.1413C>T (p.Phe471=)
NM_001040716.2(PC):c.1458G>A (p.Glu486=) rs2135821279
NM_001040716.2(PC):c.1470G>A (p.Leu490=)
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.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+15T>C
NM_001040716.2(PC):c.1513+17C>T
NM_001040716.2(PC):c.1513+18C>T
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.1514-7T>A
NM_001040716.2(PC):c.1514-8C>T rs779743894
NM_001040716.2(PC):c.1527A>G (p.Val509=)
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.1560C>A (p.Ala520=) rs1591125381
NM_001040716.2(PC):c.1563C>T (p.Ser521=)
NM_001040716.2(PC):c.156G>A (p.Val52=)
NM_001040716.2(PC):c.1574C>T (p.Thr525Met)
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.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.1638G>A (p.Leu546=)
NM_001040716.2(PC):c.1638G>T (p.Leu546=)
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.1680C>T (p.His560=)
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.1722C>T (p.His574=) rs2135814600
NM_001040716.2(PC):c.1737C>T (p.Ala579=) rs2135814504
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.1803C>G (p.Leu601=)
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+7T>C rs2135813847
NM_001040716.2(PC):c.1826-14C>T
NM_001040716.2(PC):c.1826-18C>T
NM_001040716.2(PC):c.1826-4G>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.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.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.1878G>A (p.Arg626=)
NM_001040716.2(PC):c.1890C>T (p.Leu630=) rs1284772953
NM_001040716.2(PC):c.1896G>A (p.Glu632=) rs745438957
NM_001040716.2(PC):c.1899C>G (p.Leu633=)
NM_001040716.2(PC):c.1908C>T (p.Asn636=) rs2135809462
NM_001040716.2(PC):c.1917C>T (p.Phe639=)
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.1953C>T (p.Tyr651=) rs1945510204
NM_001040716.2(PC):c.1968C>T (p.Asp656=) rs2135808762
NM_001040716.2(PC):c.1974G>A (p.Val658=) rs745327162
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.1983-11C>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.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.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.2040C>T (p.Leu680=) rs1945471644
NM_001040716.2(PC):c.204T>G (p.Ser68=) rs372697822
NM_001040716.2(PC):c.2067C>T (p.Gly689=)
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.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.2151G>A (p.Lys717=) rs1591119216
NM_001040716.2(PC):c.2157A>G (p.Ser719=) rs2135803352
NM_001040716.2(PC):c.2160G>A (p.Leu720=) rs1945463615
NM_001040716.2(PC):c.2163G>A (p.Gln721=)
NM_001040716.2(PC):c.216G>C (p.Thr72=) rs117711892
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.2187G>A (p.Glu729=)
NM_001040716.2(PC):c.2193G>C (p.Val731=)
NM_001040716.2(PC):c.2205C>T (p.Thr735=) rs2135802801
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+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.2224-6C>T
NM_001040716.2(PC):c.2224-7C>T rs375657263
NM_001040716.2(PC):c.2224-9T>C
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.2256C>T (p.Cys752=) rs1209420938
NM_001040716.2(PC):c.2265G>C (p.Leu755=)
NM_001040716.2(PC):c.2271C>T (p.Ser757=)
NM_001040716.2(PC):c.2274C>A (p.Ser758=) rs930022211
NM_001040716.2(PC):c.2285G>A (p.Arg762His)
NM_001040716.2(PC):c.2293G>A (p.Asp765Asn)
NM_001040716.2(PC):c.2298C>A (p.Leu766=) rs2135800527
NM_001040716.2(PC):c.2328A>G (p.Ser776=)
NM_001040716.2(PC):c.2337C>T (p.Gly779=)
NM_001040716.2(PC):c.2355C>A (p.Ala785=)
NM_001040716.2(PC):c.2355C>T (p.Ala785=) rs1591117204
NM_001040716.2(PC):c.2379G>A (p.Val793=) rs1002940972
NM_001040716.2(PC):c.2385T>C (p.Asp795=)
NM_001040716.2(PC):c.240A>G (p.Ala80=)
NM_001040716.2(PC):c.240A>T (p.Ala80=) rs768997498
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.2436C>T (p.Ala812=)
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+20G>A rs776906176
NM_001040716.2(PC):c.2473+20G>T rs776906176
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.2490C>A (p.Arg830=) rs373079885
NM_001040716.2(PC):c.249C>T (p.Ala83=)
NM_001040716.2(PC):c.2502C>T (p.Tyr834=)
NM_001040716.2(PC):c.2523T>C (p.Ala841=)
NM_001040716.2(PC):c.2532G>A (p.Leu844=) rs1188416837
NM_001040716.2(PC):c.2559C>A (p.Thr853=) rs1255691208
NM_001040716.2(PC):c.2559C>T (p.Thr853=)
NM_001040716.2(PC):c.2568T>G (p.Ser856=) rs2135795793
NM_001040716.2(PC):c.2604G>A (p.Gly868=) rs2135795366
NM_001040716.2(PC):c.2613C>T (p.Tyr871=)
NM_001040716.2(PC):c.2620C>T (p.Leu874=)
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.2679C>T (p.Ala893=) rs1945398542
NM_001040716.2(PC):c.2685G>A (p.Val895=)
NM_001040716.2(PC):c.2688G>A (p.Glu896=)
NM_001040716.2(PC):c.2691C>T (p.Ala897=) rs2135794398
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.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.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.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.2805G>T (p.Ala935=)
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.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.2832G>A (p.Val944=)
NM_001040716.2(PC):c.2850C>A (p.Gly950=)
NM_001040716.2(PC):c.2862C>T (p.Val954=)
NM_001040716.2(PC):c.2865C>T (p.Pro955=)
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.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.2899-14G>C
NM_001040716.2(PC):c.2899-18C>T
NM_001040716.2(PC):c.2899-20T>G
NM_001040716.2(PC):c.2899-4C>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.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.2949T>C (p.Pro983=)
NM_001040716.2(PC):c.2952C>G (p.Pro984=)
NM_001040716.2(PC):c.2952C>T (p.Pro984=) rs1945360928
NM_001040716.2(PC):c.2970G>A (p.Leu990=) rs2062718859
NM_001040716.2(PC):c.2973G>A (p.Glu991=)
NM_001040716.2(PC):c.297C>A (p.Ile99=)
NM_001040716.2(PC):c.297C>T (p.Ile99=)
NM_001040716.2(PC):c.2994T>C (p.His998=)
NM_001040716.2(PC):c.3006G>T (p.Val1002=) rs1457181158
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.3066C>T (p.Asp1022=) rs2135789388
NM_001040716.2(PC):c.3069C>T (p.Phe1023=) rs753587788
NM_001040716.2(PC):c.306C>T (p.Ile102=)
NM_001040716.2(PC):c.309C>T (p.Ile103=)
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.3141G>A (p.Glu1047=)
NM_001040716.2(PC):c.3147+10T>C
NM_001040716.2(PC):c.3147+19T>A
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.3165C>A (p.Gly1055=)
NM_001040716.2(PC):c.3171G>T (p.Thr1057=)
NM_001040716.2(PC):c.3180C>T (p.Ile1060=) rs745677173
NM_001040716.2(PC):c.3187C>T (p.Leu1063=)
NM_001040716.2(PC):c.3189G>A (p.Leu1063=)
NM_001040716.2(PC):c.3193G>A (p.Val1065Met)
NM_001040716.2(PC):c.3195G>A (p.Val1065=)
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+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.322-4G>T
NM_001040716.2(PC):c.322-8A>G rs778409831
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.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.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.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+16G>A
NM_001040716.2(PC):c.3288+17G>A
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.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.3318G>A (p.Lys1106=) rs2135784251
NM_001040716.2(PC):c.3324G>A (p.Val1108=)
NM_001040716.2(PC):c.3336C>A (p.Ile1112=) rs776196411
NM_001040716.2(PC):c.3342G>T (p.Ala1114=)
NM_001040716.2(PC):c.3360G>A (p.Val1120=)
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.3378G>A (p.Val1126=) rs753201697
NM_001040716.2(PC):c.3378G>C (p.Val1126=) rs753201697
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.3390G>A (p.Lys1130=) rs200166901
NM_001040716.2(PC):c.3394G>A (p.Ala1132Thr)
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.3414T>C (p.Cys1138=) rs2135782929
NM_001040716.2(PC):c.3432G>A (p.Lys1144=)
NM_001040716.2(PC):c.3441T>C (p.Thr1147=)
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.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.3497T>C (p.Met1166Thr)
NM_001040716.2(PC):c.3501A>G (p.Thr1167=) rs2135782194
NM_001040716.2(PC):c.3519C>T (p.Leu1173=) rs2135781997
NM_001040716.2(PC):c.3522C>T (p.Ile1174=)
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.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.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.465C>G (p.Ala155=) rs1336829179
NM_001040716.2(PC):c.465C>T (p.Ala155=) rs1336829179
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>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.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.552C>T (p.Ser184=) rs1591188749
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.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.597T>A (p.Gly199=) rs1946712107
NM_001040716.2(PC):c.600A>C (p.Gly200=)
NM_001040716.2(PC):c.60C>T (p.Ser20=) rs1591192392
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+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.634-4G>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.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.723G>A (p.Lys241=) rs2135937673
NM_001040716.2(PC):c.732C>T (p.His244=) rs1322118579
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+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.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.786G>A (p.Glu262=) rs200030109
NM_001040716.2(PC):c.787C>A (p.Arg263=)
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.804G>A (p.Gln268=)
NM_001040716.2(PC):c.810G>A (p.Arg270=)
NM_001040716.2(PC):c.831T>C (p.Ile277=)
NM_001040716.2(PC):c.834C>A (p.Ala278=) rs2135935377
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.885T>C (p.Ser295=) rs1320318568
NM_001040716.2(PC):c.888G>A (p.Val296=) rs1342125656
NM_001040716.2(PC):c.88C>T (p.Arg30Trp)
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.904-12C>T
NM_001040716.2(PC):c.904-4A>G
NM_001040716.2(PC):c.904-4A>T
NM_001040716.2(PC):c.904-9C>T
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.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=)

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