ClinVar Miner

List of variants reported as likely benign for bone remodeling disease by Invitae

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1223
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HGVS dbSNP gnomAD frequency
NM_002334.4(LRP4):c.5357T>A (p.Met1786Lys) rs61748876 0.00246
NM_031471.6(FERMT3):c.159C>G (p.Ile53Met) rs142815441 0.00225
NM_002334.4(LRP4):c.1048+7G>T rs148557097 0.00220
NM_002334.4(LRP4):c.1787A>G (p.His596Arg) rs138878258 0.00211
NM_002334.4(LRP4):c.1915+6C>T rs184555624 0.00175
NM_031471.6(FERMT3):c.1523A>C (p.Gln508Pro) rs138031026 0.00137
NM_031471.6(FERMT3):c.331C>T (p.Arg111Cys) rs140328152 0.00129
NM_002334.4(LRP4):c.639C>T (p.Asp213=) rs144974139 0.00124
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) rs149082597 0.00111
NM_031471.6(FERMT3):c.1893C>T (p.Ile631=) rs142025489 0.00106
NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp) rs61742871 0.00098
NM_031471.6(FERMT3):c.1158C>G (p.Ser386Arg) rs75295961 0.00094
NM_031471.6(FERMT3):c.1188G>A (p.Gln396=) rs148021416 0.00088
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser) rs151234321 0.00086
NM_031471.6(FERMT3):c.607C>T (p.Pro203Ser) rs143873934 0.00086
NM_002334.4(LRP4):c.257G>A (p.Arg86His) rs138239756 0.00083
NM_207122.2(EXT2):c.1588G>A (p.Glu530Lys) rs148711133 0.00079
NM_002334.4(LRP4):c.2868G>A (p.Glu956=) rs145460760 0.00076
NM_031471.6(FERMT3):c.394+12G>A rs375841962 0.00076
NM_207122.2(EXT2):c.965G>A (p.Arg322His) rs149727518 0.00076
NM_002334.4(LRP4):c.5520T>C (p.His1840=) rs144350829 0.00075
NM_031471.6(FERMT3):c.615C>T (p.Pro205=) rs142774418 0.00072
NM_000127.3(EXT1):c.1359C>T (p.Phe453=) rs148922894 0.00067
NM_002334.4(LRP4):c.4807A>G (p.Ile1603Val) rs147688807 0.00063
NM_003900.5(SQSTM1):c.924G>A (p.Ala308=) rs139482113 0.00063
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met) rs138495222 0.00063
NM_002334.4(LRP4):c.3390G>A (p.Ala1130=) rs144639401 0.00060
NM_002334.4(LRP4):c.1194A>G (p.Glu398=) rs138589242 0.00058
NM_000127.3(EXT1):c.1779C>T (p.Pro593=) rs143881630 0.00056
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val) rs200396166 0.00054
NM_002334.4(LRP4):c.676+13G>A rs200963011 0.00052
NM_207122.2(EXT2):c.1534G>T (p.Val512Leu) rs147753803 0.00048
NM_003900.5(SQSTM1):c.372C>T (p.Pro124=) rs11548640 0.00046
NM_207122.2(EXT2):c.1087G>A (p.Val363Met) rs138943091 0.00046
NM_002334.4(LRP4):c.3944C>T (p.Ser1315Leu) rs150681693 0.00042
NM_031471.6(FERMT3):c.1546-6C>T rs200208378 0.00041
NM_031471.6(FERMT3):c.515-5T>A rs371192713 0.00041
NM_207122.2(EXT2):c.1527A>G (p.Leu509=) rs145649534 0.00039
NM_003900.5(SQSTM1):c.1278G>A (p.Ala426=) rs143977783 0.00036
NM_207122.2(EXT2):c.744-10T>G rs200943294 0.00036
NM_003900.5(SQSTM1):c.328C>T (p.Arg110Cys) rs139372286 0.00034
NM_003900.5(SQSTM1):c.783C>T (p.His261=) rs145001811 0.00034
NM_031471.6(FERMT3):c.683+18G>A rs369707009 0.00033
NM_002334.4(LRP4):c.3004+19G>T rs376749778 0.00031
NM_002334.4(LRP4):c.4536A>T (p.Thr1512=) rs144169411 0.00031
NM_207122.2(EXT2):c.1912G>A (p.Val638Ile) rs145024832 0.00031
NM_002334.4(LRP4):c.2815-6T>G rs372210790 0.00030
NM_207122.2(EXT2):c.509C>T (p.Thr170Ile) rs113846849 0.00029
NM_207122.2(EXT2):c.843A>G (p.Leu281=) rs111320923 0.00027
NM_003900.5(SQSTM1):c.908C>T (p.Ala303Val) rs143746604 0.00026
NM_002334.4(LRP4):c.273C>T (p.Asp91=) rs150401820 0.00025
NM_207122.2(EXT2):c.1645C>T (p.Leu549=) rs142565472 0.00025
NM_207122.2(EXT2):c.939+19C>G rs370017441 0.00025
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile) rs61753260 0.00024
NM_002334.4(LRP4):c.1059G>A (p.Thr353=) rs144710408 0.00024
NM_207122.2(EXT2):c.444C>T (p.Asn148=) rs145884580 0.00024
NM_003900.5(SQSTM1):c.674-17C>T rs372845160 0.00023
NM_031471.6(FERMT3):c.894+10G>A rs112542691 0.00023
NM_002334.4(LRP4):c.378G>A (p.Leu126=) rs201749120 0.00022
NM_031471.6(FERMT3):c.161-6C>T rs114338405 0.00022
NM_031471.6(FERMT3):c.320G>A (p.Arg107His) rs138704967 0.00022
NM_207122.2(EXT2):c.1519G>A (p.Val507Ile) rs567445428 0.00022
NM_002334.4(LRP4):c.3384G>A (p.Gly1128=) rs144335505 0.00021
NM_002334.4(LRP4):c.4923C>T (p.Asp1641=) rs150734530 0.00021
NM_003900.5(SQSTM1):c.1201A>C (p.Met401Leu) rs201795943 0.00021
NM_002334.4(LRP4):c.1491C>T (p.Leu497=) rs146501212 0.00020
NM_031471.6(FERMT3):c.1080-5C>T rs143722885 0.00020
NM_207122.2(EXT2):c.2013G>A (p.Val671=) rs371019537 0.00020
NM_000127.3(EXT1):c.1319G>A (p.Arg440His) rs144550328 0.00019
NM_031471.6(FERMT3):c.303C>T (p.Ile101=) rs375277199 0.00019
NM_002334.4(LRP4):c.1654A>T (p.Asn552Tyr) rs201253200 0.00018
NM_002334.4(LRP4):c.3753G>A (p.Pro1251=) rs140010759 0.00018
NM_003900.5(SQSTM1):c.1038G>A (p.Val346=) rs150470670 0.00018
NM_002334.4(LRP4):c.1310-9G>C rs200509094 0.00017
NM_031471.6(FERMT3):c.161-12C>T rs372152105 0.00017
NM_000127.3(EXT1):c.1612G>A (p.Val538Ile) rs767492816 0.00015
NM_002334.4(LRP4):c.3429G>A (p.Thr1143=) rs137882536 0.00015
NM_002334.4(LRP4):c.636C>T (p.Gly212=) rs17848239 0.00015
NM_002334.4(LRP4):c.4584-4G>A rs368518969 0.00014
NM_002334.4(LRP4):c.4584-5C>T rs183295145 0.00014
NM_031471.6(FERMT3):c.1251C>T (p.Cys417=) rs374519761 0.00014
NM_207122.2(EXT2):c.889C>T (p.Arg297Cys) rs146098187 0.00014
NM_031471.6(FERMT3):c.885C>T (p.Ala295=) rs374379186 0.00013
NM_000127.3(EXT1):c.124G>A (p.Gly42Ser) rs368382074 0.00012
NM_002334.4(LRP4):c.2436T>C (p.Asp812=) rs201159730 0.00012
NM_002334.4(LRP4):c.447C>T (p.Ser149=) rs763246909 0.00012
NM_003900.5(SQSTM1):c.912G>A (p.Thr304=) rs370970067 0.00012
NM_002334.4(LRP4):c.2763C>T (p.Asp921=) rs532977473 0.00011
NM_002334.4(LRP4):c.5178C>T (p.Tyr1726=) rs372105627 0.00011
NM_003900.5(SQSTM1):c.1272C>T (p.Ile424=) rs374985304 0.00011
NM_207122.2(EXT2):c.1407C>T (p.Leu469=) rs148753786 0.00011
NM_000127.3(EXT1):c.1430C>G (p.Pro477Arg) rs145720047 0.00010
NM_002334.4(LRP4):c.3267C>T (p.Asp1089=) rs150616375 0.00010
NM_002334.4(LRP4):c.4110C>T (p.Asp1370=) rs143496445 0.00010
NM_003900.5(SQSTM1):c.1083C>T (p.Ser361=) rs201591177 0.00010
NM_003900.5(SQSTM1):c.755-8G>A rs369581639 0.00010
NM_031471.6(FERMT3):c.1221C>T (p.Pro407=) rs370181430 0.00010
NM_000127.3(EXT1):c.1674A>G (p.Thr558=) rs202051061 0.00009
NM_000127.3(EXT1):c.963-16C>T rs369462786 0.00009
NM_002334.4(LRP4):c.1707C>T (p.Tyr569=) rs61748895 0.00009
NM_002334.4(LRP4):c.2112C>T (p.Asp704=) rs140757594 0.00009
NM_002334.4(LRP4):c.2216-14C>T rs369714698 0.00009
NM_002334.4(LRP4):c.3537-13C>A rs752687926 0.00009
NM_002334.4(LRP4):c.426G>A (p.Gln142=) rs371955690 0.00009
NM_002334.4(LRP4):c.4317C>T (p.Ala1439=) rs376909913 0.00009
NM_003900.5(SQSTM1):c.171G>C (p.Ala57=) rs773605598 0.00009
NM_003900.5(SQSTM1):c.351G>A (p.Ala117=) rs376214713 0.00009
NM_031471.6(FERMT3):c.1647C>T (p.Phe549=) rs370038112 0.00009
NM_031471.6(FERMT3):c.786+10G>T rs371382691 0.00009
NM_031471.6(FERMT3):c.786+7C>T rs373211697 0.00009
NM_002334.4(LRP4):c.282C>T (p.Asn94=) rs17848224 0.00008
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln) rs140561784 0.00008
NM_000127.3(EXT1):c.1609G>A (p.Val537Ile) rs144397063 0.00007
NM_002334.4(LRP4):c.660A>G (p.Ser220=) rs200129866 0.00007
NM_031471.6(FERMT3):c.1014G>A (p.Ala338=) rs774290819 0.00007
NM_031471.6(FERMT3):c.787-7G>A rs778795486 0.00007
NM_000127.3(EXT1):c.1659C>T (p.Tyr553=) rs757115396 0.00006
NM_000127.3(EXT1):c.214G>A (p.Glu72Lys) rs150818931 0.00006
NM_002334.4(LRP4):c.1023C>T (p.Ser341=) rs200097836 0.00006
NM_002334.4(LRP4):c.1048+20G>A rs199512829 0.00006
NM_002334.4(LRP4):c.1584C>T (p.Thr528=) rs574108233 0.00006
NM_002334.4(LRP4):c.177C>T (p.Asp59=) rs373625784 0.00006
NM_002334.4(LRP4):c.2318G>A (p.Arg773His) rs374890595 0.00006
NM_002334.4(LRP4):c.3756G>A (p.Val1252=) rs75923112 0.00006
NM_002334.4(LRP4):c.4254C>T (p.Asn1418=) rs201016203 0.00006
NM_002334.4(LRP4):c.4255A>G (p.Met1419Val) rs779526693 0.00006
NM_002334.4(LRP4):c.4293C>T (p.Asp1431=) rs17848229 0.00006
NM_002334.4(LRP4):c.4408C>T (p.Leu1470=) rs372569948 0.00006
NM_002334.4(LRP4):c.4812C>T (p.Ile1604=) rs753496184 0.00006
NM_002334.4(LRP4):c.612C>T (p.Ile204=) rs757902891 0.00006
NM_003900.5(SQSTM1):c.1088G>A (p.Gly363Glu) rs375495050 0.00006
NM_003900.5(SQSTM1):c.205+7G>C rs912066047 0.00006
NM_003900.5(SQSTM1):c.696G>A (p.Pro232=) rs145688323 0.00006
NM_031471.6(FERMT3):c.1205-16C>T rs537958912 0.00006
NM_031471.6(FERMT3):c.1434G>A (p.Thr478=) rs368102589 0.00006
NM_031471.6(FERMT3):c.1464C>T (p.His488=) rs200660798 0.00006
NM_031471.6(FERMT3):c.1545+12C>T rs748289124 0.00006
NM_031471.6(FERMT3):c.1546-12A>G rs766045189 0.00006
NM_031471.6(FERMT3):c.315C>G (p.Pro105=) rs367568281 0.00006
NM_031471.6(FERMT3):c.642A>G (p.Pro214=) rs375528370 0.00006
NM_031471.6(FERMT3):c.93G>A (p.Ser31=) rs753418361 0.00006
NM_031471.6(FERMT3):c.963C>T (p.Asp321=) rs370133642 0.00006
NM_207122.2(EXT2):c.182G>A (p.Arg61His) rs151228794 0.00006
NM_207122.2(EXT2):c.357C>T (p.Gly119=) rs753325648 0.00006
NM_000127.3(EXT1):c.1722+9C>T rs371055794 0.00005
NM_000127.3(EXT1):c.2062C>T (p.Arg688Trp) rs138855109 0.00005
NM_000127.3(EXT1):c.543C>T (p.Leu181=) rs375583188 0.00005
NM_002334.4(LRP4):c.1437C>T (p.Arg479=) rs141108617 0.00005
NM_002334.4(LRP4):c.1779C>T (p.Ala593=) rs202063944 0.00005
NM_002334.4(LRP4):c.3585C>T (p.Ser1195=) rs148361325 0.00005
NM_002334.4(LRP4):c.3837C>T (p.Asp1279=) rs779045515 0.00005
NM_002334.4(LRP4):c.4404T>C (p.Asn1468=) rs752801557 0.00005
NM_002334.4(LRP4):c.4584-15T>C rs777314555 0.00005
NM_002334.4(LRP4):c.5556C>T (p.Ala1852=) rs200514161 0.00005
NM_002334.4(LRP4):c.922+13G>A rs771013783 0.00005
NM_003900.5(SQSTM1):c.295A>C (p.Ile99Leu) rs537142935 0.00005
NM_003900.5(SQSTM1):c.673+10G>C rs753023157 0.00005
NM_031471.6(FERMT3):c.1884C>T (p.His628=) rs747261674 0.00005
NM_031471.6(FERMT3):c.432T>G (p.Ala144=) rs752383968 0.00005
NM_207122.2(EXT2):c.1341G>A (p.Pro447=) rs774039598 0.00005
NM_207122.2(EXT2):c.588C>T (p.Pro196=) rs200009614 0.00005
NM_207122.2(EXT2):c.8C>T (p.Ala3Val) rs201185639 0.00005
NM_000127.3(EXT1):c.1695C>T (p.Asp565=) rs762218262 0.00004
NM_000127.3(EXT1):c.1743G>A (p.Val581=) rs375284779 0.00004
NM_000127.3(EXT1):c.591C>T (p.Ser197=) rs770795716 0.00004
NM_000127.3(EXT1):c.609C>T (p.Tyr203=) rs886042484 0.00004
NM_002334.4(LRP4):c.1086C>T (p.Asn362=) rs556905132 0.00004
NM_002334.4(LRP4):c.1308G>A (p.Leu436=) rs750627555 0.00004
NM_002334.4(LRP4):c.132C>T (p.Cys44=) rs760552036 0.00004
NM_002334.4(LRP4):c.1668C>T (p.Pro556=) rs766741394 0.00004
NM_002334.4(LRP4):c.1932C>T (p.Phe644=) rs1011484252 0.00004
NM_002334.4(LRP4):c.2093-16T>C rs751168409 0.00004
NM_002334.4(LRP4):c.2202C>T (p.His734=) rs757999800 0.00004
NM_002334.4(LRP4):c.2358C>T (p.His786=) rs371677748 0.00004
NM_002334.4(LRP4):c.2535A>C (p.Thr845=) rs145557677 0.00004
NM_002334.4(LRP4):c.2766C>T (p.Ala922=) rs773599397 0.00004
NM_002334.4(LRP4):c.3459G>A (p.Leu1153=) rs768821263 0.00004
NM_002334.4(LRP4):c.4245C>T (p.Asn1415=) rs185084650 0.00004
NM_002334.4(LRP4):c.4665T>C (p.His1555=) rs145206396 0.00004
NM_002334.4(LRP4):c.5001G>A (p.Lys1667=) rs780329570 0.00004
NM_002334.4(LRP4):c.5088-20C>T rs370004451 0.00004
NM_002334.4(LRP4):c.53-7C>T rs745407997 0.00004
NM_002334.4(LRP4):c.5586G>A (p.Thr1862=) rs751494811 0.00004
NM_002334.4(LRP4):c.933A>G (p.Gln311=) rs375108263 0.00004
NM_003900.5(SQSTM1):c.399G>C (p.Gly133=) rs768110162 0.00004
NM_003900.5(SQSTM1):c.456C>T (p.Ser152=) rs145037913 0.00004
NM_003900.5(SQSTM1):c.540G>A (p.Ser180=) rs370203737 0.00004
NM_003900.5(SQSTM1):c.548G>A (p.Arg183His) rs535606152 0.00004
NM_003900.5(SQSTM1):c.570C>T (p.His190=) rs758110159 0.00004
NM_003900.5(SQSTM1):c.674C>T (p.Ala225Val) rs202235745 0.00004
NM_003900.5(SQSTM1):c.687G>A (p.Ser229=) rs140341924 0.00004
NM_003900.5(SQSTM1):c.942C>T (p.Ile314=) rs200695664 0.00004
NM_031471.6(FERMT3):c.120G>A (p.Ser40=) rs770220477 0.00004
NM_031471.6(FERMT3):c.126C>T (p.Ile42=) rs145854519 0.00004
NM_031471.6(FERMT3):c.129C>T (p.Gly43=) rs772711731 0.00004
NM_031471.6(FERMT3):c.1312-6G>A rs751923843 0.00004
NM_031471.6(FERMT3):c.1312-7C>T rs368719526 0.00004
NM_031471.6(FERMT3):c.1503C>T (p.Gly501=) rs368698573 0.00004
NM_031471.6(FERMT3):c.160+10C>T rs577691940 0.00004
NM_031471.6(FERMT3):c.483C>T (p.Leu161=) rs781259522 0.00004
NM_031471.6(FERMT3):c.735C>T (p.Asp245=) rs376170241 0.00004
NM_031471.6(FERMT3):c.795C>T (p.Pro265=) rs578201604 0.00004
NM_207122.2(EXT2):c.1495+9C>G rs768311130 0.00004
NM_207122.2(EXT2):c.1704T>A (p.Gly568=) rs145878394 0.00004
NM_207122.2(EXT2):c.382C>T (p.Arg128Trp) rs200613371 0.00004
NM_207122.2(EXT2):c.849C>T (p.Leu283=) rs749093709 0.00004
NM_000127.3(EXT1):c.1285-9A>G rs761040629 0.00003
NM_000127.3(EXT1):c.1293G>A (p.Gln431=) rs773449892 0.00003
NM_000127.3(EXT1):c.1899A>G (p.Leu633=) rs368191286 0.00003
NM_002334.4(LRP4):c.1284C>T (p.Pro428=) rs374136996 0.00003
NM_002334.4(LRP4):c.1368C>T (p.His456=) rs570223328 0.00003
NM_002334.4(LRP4):c.3136+10A>G rs377543577 0.00003
NM_002334.4(LRP4):c.3462C>T (p.Asp1154=) rs570258125 0.00003
NM_002334.4(LRP4):c.3516C>T (p.Ile1172=) rs377557349 0.00003
NM_002334.4(LRP4):c.3861C>A (p.Ile1287=) rs751449110 0.00003
NM_002334.4(LRP4):c.4269C>T (p.Ile1423=) rs952249452 0.00003
NM_002334.4(LRP4):c.501C>T (p.Cys167=) rs369739623 0.00003
NM_002334.4(LRP4):c.504C>T (p.Asp168=) rs749048211 0.00003
NM_002334.4(LRP4):c.5385+13A>G rs370288647 0.00003
NM_002334.4(LRP4):c.768T>C (p.Cys256=) rs774343834 0.00003
NM_003900.5(SQSTM1):c.1104C>T (p.Asp368=) rs750140541 0.00003
NM_003900.5(SQSTM1):c.498C>T (p.Leu166=) rs372518286 0.00003
NM_003900.5(SQSTM1):c.755-10C>T rs763522925 0.00003
NM_031471.6(FERMT3):c.1080-17C>T rs374311779 0.00003
NM_031471.6(FERMT3):c.1821C>T (p.Ile607=) rs779453227 0.00003
NM_031471.6(FERMT3):c.1983G>A (p.Glu661=) rs774698514 0.00003
NM_031471.6(FERMT3):c.324C>T (p.Arg108=) rs755053623 0.00003
NM_031471.6(FERMT3):c.684-8C>T rs775337789 0.00003
NM_207122.2(EXT2):c.1080-6C>T rs752180821 0.00003
NM_207122.2(EXT2):c.1194G>A (p.Ala398=) rs1011914306 0.00003
NM_207122.2(EXT2):c.1461C>T (p.Val487=) rs150758739 0.00003
NM_207122.2(EXT2):c.1935+11C>G rs764143899 0.00003
NM_207122.2(EXT2):c.2052C>T (p.Phe684=) rs746317053 0.00003
NM_207122.2(EXT2):c.699T>C (p.Tyr233=) rs1319747883 0.00003
NM_000127.3(EXT1):c.1338C>T (p.Asn446=) rs745637397 0.00002
NM_000127.3(EXT1):c.148A>G (p.Ser50Gly) rs772811741 0.00002
NM_000127.3(EXT1):c.1509T>A (p.Ala503=) rs949806342 0.00002
NM_000127.3(EXT1):c.1608C>T (p.Val536=) rs761252195 0.00002
NM_000127.3(EXT1):c.195C>T (p.Phe65=) rs1202105470 0.00002
NM_000127.3(EXT1):c.2106G>A (p.Gln702=) rs780640885 0.00002
NM_000127.3(EXT1):c.210A>G (p.Gln70=) rs367543871 0.00002
NM_000127.3(EXT1):c.2148G>A (p.Pro716=) rs757499157 0.00002
NM_000127.3(EXT1):c.2172C>T (p.Leu724=) rs570085150 0.00002
NM_000127.3(EXT1):c.66T>C (p.Tyr22=) rs764093488 0.00002
NM_000127.3(EXT1):c.699T>C (p.Ser233=) rs370644296 0.00002
NM_000127.3(EXT1):c.768C>T (p.Ile256=) rs566692634 0.00002
NM_000127.3(EXT1):c.962+7G>C rs778490814 0.00002
NM_002334.4(LRP4):c.105A>C (p.Ala35=) rs766633369 0.00002
NM_002334.4(LRP4):c.1200C>T (p.Ala400=) rs755019127 0.00002
NM_002334.4(LRP4):c.1209G>A (p.Gly403=) rs751742961 0.00002
NM_002334.4(LRP4):c.1380C>T (p.Tyr460=) rs373523952 0.00002
NM_002334.4(LRP4):c.1731C>G (p.Pro577=) rs762761020 0.00002
NM_002334.4(LRP4):c.1824C>T (p.Ala608=) rs368577516 0.00002
NM_002334.4(LRP4):c.228T>C (p.Phe76=) rs146007685 0.00002
NM_002334.4(LRP4):c.2425-20C>T rs760531886 0.00002
NM_002334.4(LRP4):c.2481C>G (p.Thr827=) rs759325895 0.00002
NM_002334.4(LRP4):c.2910C>T (p.Ser970=) rs754936858 0.00002
NM_002334.4(LRP4):c.3033C>T (p.Gly1011=) rs534064794 0.00002
NM_002334.4(LRP4):c.3278-6C>T rs373579793 0.00002
NM_002334.4(LRP4):c.3939C>T (p.Cys1313=) rs779892727 0.00002
NM_002334.4(LRP4):c.4362G>A (p.Ala1454=) rs775166531 0.00002
NM_002334.4(LRP4):c.471C>T (p.Asp157=) rs765171137 0.00002
NM_002334.4(LRP4):c.5070G>T (p.Leu1690=) rs369034386 0.00002
NM_002334.4(LRP4):c.5087+14A>G rs376251083 0.00002
NM_002334.4(LRP4):c.5330A>C (p.Lys1777Thr) rs541585714 0.00002
NM_002334.4(LRP4):c.548-20C>A rs1267038625 0.00002
NM_002334.4(LRP4):c.585G>A (p.Glu195=) rs147714102 0.00002
NM_002334.4(LRP4):c.923-16C>A rs756847264 0.00002
NM_003900.5(SQSTM1):c.106G>A (p.Glu36Lys) rs376158712 0.00002
NM_003900.5(SQSTM1):c.1165+15A>T rs764410841 0.00002
NM_003900.5(SQSTM1):c.1206G>A (p.Leu402=) rs745585269 0.00002
NM_003900.5(SQSTM1):c.216G>C (p.Gly72=) rs757587948 0.00002
NM_003900.5(SQSTM1):c.234C>T (p.Ser78=) rs746426826 0.00002
NM_003900.5(SQSTM1):c.532-19C>T rs368559255 0.00002
NM_003900.5(SQSTM1):c.547C>T (p.Arg183Cys) rs567433223 0.00002
NM_003900.5(SQSTM1):c.717C>T (p.Asn239=) rs747314158 0.00002
NM_003900.5(SQSTM1):c.734C>T (p.Ala245Val) rs762767720 0.00002
NM_003900.5(SQSTM1):c.969+19C>T rs566253151 0.00002
NM_031471.6(FERMT3):c.1269C>A (p.Pro423=) rs760064066 0.00002
NM_031471.6(FERMT3):c.1546-5C>T rs368775495 0.00002
NM_031471.6(FERMT3):c.1584C>T (p.Ala528=) rs371831924 0.00002
NM_031471.6(FERMT3):c.1749C>T (p.Asp583=) rs112045200 0.00002
NM_031471.6(FERMT3):c.1813-13G>A rs372936910 0.00002
NM_031471.6(FERMT3):c.264C>T (p.Asp88=) rs759003628 0.00002
NM_031471.6(FERMT3):c.421C>T (p.Leu141=) rs768084793 0.00002
NM_031471.6(FERMT3):c.683+17C>G rs765943402 0.00002
NM_031471.6(FERMT3):c.75G>A (p.Glu25=) rs139520045 0.00002
NM_207122.2(EXT2):c.1306-7C>G rs771232346 0.00002
NM_207122.2(EXT2):c.1389C>T (p.Tyr463=) rs1166915261 0.00002
NM_207122.2(EXT2):c.1587C>T (p.Ile529=) rs765251957 0.00002
NM_207122.2(EXT2):c.1642G>A (p.Glu548Lys) rs1804679 0.00002
NM_207122.2(EXT2):c.2018+17C>T rs375554352 0.00002
NM_207122.2(EXT2):c.743+10A>C rs762753229 0.00002
NM_207122.2(EXT2):c.93C>T (p.Ser31=) rs747830835 0.00002
NM_000127.3(EXT1):c.1014T>G (p.Arg338=) rs750458103 0.00001
NM_000127.3(EXT1):c.1164+8A>G rs765877825 0.00001
NM_000127.3(EXT1):c.123C>T (p.Ser41=) rs1186563531 0.00001
NM_000127.3(EXT1):c.1266T>A (p.Ile422=) rs899395870 0.00001
NM_000127.3(EXT1):c.1284+19C>T rs774601928 0.00001
NM_000127.3(EXT1):c.1354T>C (p.Leu452=) rs1372000855 0.00001
NM_000127.3(EXT1):c.1467C>G (p.Pro489=) rs747800473 0.00001
NM_000127.3(EXT1):c.1545T>A (p.Val515=) rs200372337 0.00001
NM_000127.3(EXT1):c.1704G>A (p.Thr568=) rs146389596 0.00001
NM_000127.3(EXT1):c.1740A>G (p.Thr580=) rs1340368285 0.00001
NM_000127.3(EXT1):c.1758T>C (p.Pro586=) rs771063505 0.00001
NM_000127.3(EXT1):c.1839G>A (p.Thr613=) rs765677175 0.00001
NM_000127.3(EXT1):c.1920C>T (p.Ala640=) rs1480072354 0.00001
NM_000127.3(EXT1):c.2010C>T (p.Ile670=) rs745677100 0.00001
NM_000127.3(EXT1):c.2055+17C>T rs1295508874 0.00001
NM_000127.3(EXT1):c.2055+7A>C rs889836376 0.00001
NM_000127.3(EXT1):c.2121G>A (p.Thr707=) rs746184779 0.00001
NM_000127.3(EXT1):c.2199C>G (p.Val733=) rs201230140 0.00001
NM_000127.3(EXT1):c.303G>A (p.Glu101=) rs893833607 0.00001
NM_000127.3(EXT1):c.405A>G (p.Leu135=) rs1401060657 0.00001
NM_000127.3(EXT1):c.69C>T (p.Phe23=) rs200276819 0.00001
NM_002334.4(LRP4):c.1049-6G>C rs775792196 0.00001
NM_002334.4(LRP4):c.1212T>C (p.Tyr404=) rs1941501832 0.00001
NM_002334.4(LRP4):c.1251A>G (p.Gln417=) rs753671990 0.00001
NM_002334.4(LRP4):c.1310-7T>A rs1555174059 0.00001
NM_002334.4(LRP4):c.1344C>T (p.Ile448=) rs748651620 0.00001
NM_002334.4(LRP4):c.1599G>A (p.Ser533=) rs745607132 0.00001
NM_002334.4(LRP4):c.1761T>C (p.Ser587=) rs1191198188 0.00001
NM_002334.4(LRP4):c.1815C>T (p.Ile605=) rs776484339 0.00001
NM_002334.4(LRP4):c.186T>C (p.Asp62=) rs1941691871 0.00001
NM_002334.4(LRP4):c.1915+10T>C rs566481615 0.00001
NM_002334.4(LRP4):c.2010G>A (p.Thr670=) rs199654257 0.00001
NM_002334.4(LRP4):c.2118C>T (p.Asn706=) rs762032159 0.00001
NM_002334.4(LRP4):c.21G>A (p.Ala7=) rs967769665 0.00001
NM_002334.4(LRP4):c.2216-13G>A rs376073181 0.00001
NM_002334.4(LRP4):c.2325T>G (p.Ala775=) rs886048354 0.00001
NM_002334.4(LRP4):c.2424+12C>T rs765593279 0.00001
NM_002334.4(LRP4):c.2424+13G>A rs374365893 0.00001
NM_002334.4(LRP4):c.2835C>T (p.Leu945=) rs201362411 0.00001
NM_002334.4(LRP4):c.2859C>T (p.Leu953=) rs1368908778 0.00001
NM_002334.4(LRP4):c.3005-17C>T rs778370608 0.00001
NM_002334.4(LRP4):c.3072C>T (p.Ser1024=) rs537403005 0.00001
NM_002334.4(LRP4):c.3105C>T (p.Asn1035=) rs1000744964 0.00001
NM_002334.4(LRP4):c.3137-8C>T rs1941047135 0.00001
NM_002334.4(LRP4):c.317-11T>C rs776234303 0.00001
NM_002334.4(LRP4):c.3195C>T (p.Asp1065=) rs745991521 0.00001
NM_002334.4(LRP4):c.3277+11C>T rs761158182 0.00001
NM_002334.4(LRP4):c.3365-7C>T rs1565783851 0.00001
NM_002334.4(LRP4):c.339C>T (p.Asp113=) rs368971854 0.00001
NM_002334.4(LRP4):c.3609G>A (p.Ala1203=) rs755263623 0.00001
NM_002334.4(LRP4):c.3699+10G>A rs770541308 0.00001
NM_002334.4(LRP4):c.3825C>T (p.Ile1275=) rs200028319 0.00001
NM_002334.4(LRP4):c.390T>C (p.Asp130=) rs140186161 0.00001
NM_002334.4(LRP4):c.3954C>T (p.Gly1318=) rs1424152195 0.00001
NM_002334.4(LRP4):c.4095G>T (p.Arg1365=) rs771308040 0.00001
NM_002334.4(LRP4):c.4176T>C (p.Tyr1392=) rs1246562304 0.00001
NM_002334.4(LRP4):c.417C>T (p.Ser139=) rs760201117 0.00001
NM_002334.4(LRP4):c.430+7G>A rs1261702662 0.00001
NM_002334.4(LRP4):c.441G>A (p.Lys147=) rs986524567 0.00001
NM_002334.4(LRP4):c.4501T>C (p.Leu1501=) rs766956711 0.00001
NM_002334.4(LRP4):c.4899G>A (p.Ser1633=) rs143849188 0.00001
NM_002334.4(LRP4):c.5064G>A (p.Thr1688=) rs762976165 0.00001
NM_002334.4(LRP4):c.5088-19A>C rs1338147762 0.00001
NM_002334.4(LRP4):c.5088-5C>T rs994961184 0.00001
NM_002334.4(LRP4):c.5118C>T (p.Leu1706=) rs777935842 0.00001
NM_002334.4(LRP4):c.5156-15C>A rs1204328295 0.00001
NM_002334.4(LRP4):c.52+13C>T rs1434991490 0.00001
NM_002334.4(LRP4):c.5247C>T (p.His1749=) rs138596351 0.00001
NM_002334.4(LRP4):c.531C>T (p.Ser177=) rs751226124 0.00001
NM_002334.4(LRP4):c.5370G>A (p.Leu1790=) rs376540994 0.00001
NM_002334.4(LRP4):c.5424G>A (p.Lys1808=) rs772706817 0.00001
NM_002334.4(LRP4):c.548-18C>A rs779705585 0.00001
NM_002334.4(LRP4):c.5574T>C (p.Asp1858=) rs767372541 0.00001
NM_002334.4(LRP4):c.5607G>A (p.Glu1869=) rs762431184 0.00001
NM_002334.4(LRP4):c.724C>T (p.Leu242=) rs1037889784 0.00001
NM_002334.4(LRP4):c.750C>T (p.Cys250=) rs758493823 0.00001
NM_002334.4(LRP4):c.759C>T (p.Asp253=) rs368640705 0.00001
NM_002334.4(LRP4):c.894C>T (p.Asn298=) rs1592542950 0.00001
NM_002334.4(LRP4):c.922+12C>T rs1297911489 0.00001
NM_002334.4(LRP4):c.922+19C>G rs749318305 0.00001
NM_002334.4(LRP4):c.923-19T>C rs528895748 0.00001
NM_003900.5(SQSTM1):c.1032A>G (p.Lys344=) rs982817243 0.00001
NM_003900.5(SQSTM1):c.1077A>G (p.Pro359=) rs771948860 0.00001
NM_003900.5(SQSTM1):c.1122C>T (p.Pro374=) rs778199086 0.00001
NM_003900.5(SQSTM1):c.1166-6C>T rs762322293 0.00001
NM_003900.5(SQSTM1):c.1230C>T (p.Gly410=) rs766437927 0.00001
NM_003900.5(SQSTM1):c.1284G>T (p.Leu428=) rs573881131 0.00001
NM_003900.5(SQSTM1):c.1322G>A (p.Ter441=) rs987821927 0.00001
NM_003900.5(SQSTM1):c.160C>T (p.Leu54=) rs1033321881 0.00001
NM_003900.5(SQSTM1):c.185G>T (p.Gly62Val) rs774355338 0.00001
NM_003900.5(SQSTM1):c.189C>T (p.Phe63=) rs1278023995 0.00001
NM_003900.5(SQSTM1):c.195G>A (p.Ala65=) rs986341874 0.00001
NM_003900.5(SQSTM1):c.213C>T (p.Asp71=) rs780842511 0.00001
NM_003900.5(SQSTM1):c.240C>T (p.Asp80=) rs148366738 0.00001
NM_003900.5(SQSTM1):c.267C>T (p.Tyr89=) rs150883783 0.00001
NM_003900.5(SQSTM1):c.302-5T>C rs199527061 0.00001
NM_003900.5(SQSTM1):c.315C>T (p.Cys105=) rs770804860 0.00001
NM_003900.5(SQSTM1):c.321G>A (p.Arg107=) rs1378204039 0.00001
NM_003900.5(SQSTM1):c.33G>C (p.Leu11=) rs1476097073 0.00001
NM_003900.5(SQSTM1):c.384C>T (p.Cys128=) rs768088721 0.00001
NM_003900.5(SQSTM1):c.39G>A (p.Lys13=) rs1007964808 0.00001
NM_003900.5(SQSTM1):c.444C>T (p.Tyr148=) rs769497182 0.00001
NM_003900.5(SQSTM1):c.516C>T (p.Phe172=) rs1387392776 0.00001
NM_003900.5(SQSTM1):c.531+15T>C rs1280173893 0.00001
NM_003900.5(SQSTM1):c.532-14A>G rs748661765 0.00001
NM_003900.5(SQSTM1):c.532-7C>T rs770329828 0.00001
NM_003900.5(SQSTM1):c.546C>T (p.Ser182=) rs759721454 0.00001
NM_003900.5(SQSTM1):c.612A>G (p.Gly204=) rs878982215 0.00001
NM_003900.5(SQSTM1):c.663G>A (p.Thr221=) rs758128093 0.00001
NM_003900.5(SQSTM1):c.674-7A>C rs776278684 0.00001
NM_003900.5(SQSTM1):c.723G>C (p.Gly241=) rs889431769 0.00001
NM_003900.5(SQSTM1):c.72C>T (p.Ser24=) rs774460525 0.00001
NM_003900.5(SQSTM1):c.755-7C>T rs781389243 0.00001
NM_003900.5(SQSTM1):c.755-9C>T rs759140266 0.00001
NM_003900.5(SQSTM1):c.763G>C (p.Val255Leu) rs182522590 0.00001
NM_003900.5(SQSTM1):c.807C>G (p.Thr269=) rs779544030 0.00001
NM_003900.5(SQSTM1):c.810C>T (p.Pro270=) rs1280918343 0.00001
NM_003900.5(SQSTM1):c.87C>G (p.Pro29=) rs755859379 0.00001
NM_003900.5(SQSTM1):c.927G>A (p.Glu309=) rs766129922 0.00001
NM_003900.5(SQSTM1):c.970-14G>A rs761682844 0.00001
NM_031471.6(FERMT3):c.1029+18G>A rs768788260 0.00001
NM_031471.6(FERMT3):c.1029+19C>G rs986189621 0.00001
NM_031471.6(FERMT3):c.1030-9C>G rs368225468 0.00001
NM_031471.6(FERMT3):c.1047C>A (p.Ile349=) rs779076021 0.00001
NM_031471.6(FERMT3):c.1079+8G>T rs568273430 0.00001
NM_031471.6(FERMT3):c.1080-4G>A rs764978388 0.00001
NM_031471.6(FERMT3):c.1236C>T (p.Ser412=) rs187514956 0.00001
NM_031471.6(FERMT3):c.1239C>T (p.Gly413=) rs748029046 0.00001
NM_031471.6(FERMT3):c.1260C>T (p.Leu420=) rs779788201 0.00001
NM_031471.6(FERMT3):c.1374C>T (p.Ala458=) rs762230079 0.00001
NM_031471.6(FERMT3):c.144G>T (p.Lys48Asn) rs369062120 0.00001
NM_031471.6(FERMT3):c.1527A>C (p.Arg509=) rs755898664 0.00001
NM_031471.6(FERMT3):c.160+11G>A rs1017427707 0.00001
NM_031471.6(FERMT3):c.1609C>T (p.Leu537=) rs772807042 0.00001
NM_031471.6(FERMT3):c.161-5C>T rs369340432 0.00001
NM_031471.6(FERMT3):c.1635C>G (p.Ser545=) rs765423929 0.00001
NM_031471.6(FERMT3):c.1707C>T (p.Ile569=) rs746482825 0.00001
NM_031471.6(FERMT3):c.1731C>T (p.Ile577=) rs184609471 0.00001
NM_031471.6(FERMT3):c.1842T>C (p.Asn614=) rs754873524 0.00001
NM_031471.6(FERMT3):c.1896G>A (p.Gly632=) rs1307248777 0.00001
NM_031471.6(FERMT3):c.369T>C (p.Ala123=) rs1165361379 0.00001
NM_031471.6(FERMT3):c.395-10C>T rs1259281702 0.00001
NM_031471.6(FERMT3):c.42G>A (p.Ser14=) rs1179556498 0.00001
NM_031471.6(FERMT3):c.660A>G (p.Ser220=) rs1456049623 0.00001
NM_031471.6(FERMT3):c.683+20C>T rs1565290775 0.00001
NM_031471.6(FERMT3):c.6G>A (p.Ala2=) rs767213325 0.00001
NM_031471.6(FERMT3):c.708C>T (p.Leu236=) rs749769689 0.00001
NM_031471.6(FERMT3):c.786+8G>A rs376909061 0.00001
NM_031471.6(FERMT3):c.787-12C>T rs1251257822 0.00001
NM_031471.6(FERMT3):c.889C>T (p.Leu297=) rs753533257 0.00001
NM_031471.6(FERMT3):c.894+16G>A rs747695131 0.00001
NM_031471.6(FERMT3):c.939G>A (p.Pro313=) rs1239621595 0.00001
NM_207122.2(EXT2):c.1003T>C (p.Leu335=) rs766467969 0.00001
NM_207122.2(EXT2):c.1173+18G>A rs760436963 0.00001
NM_207122.2(EXT2):c.1180T>G (p.Trp394Gly) rs769052712 0.00001
NM_207122.2(EXT2):c.1208T>C (p.Ile403Thr) rs530523884 0.00001
NM_207122.2(EXT2):c.1231C>T (p.Leu411=) rs914948841 0.00001
NM_207122.2(EXT2):c.1305+12C>G rs767006996 0.00001
NM_207122.2(EXT2):c.1518G>T (p.Arg506=) rs747230848 0.00001
NM_207122.2(EXT2):c.1974A>G (p.Thr658=) rs1319948823 0.00001
NM_207122.2(EXT2):c.211C>T (p.Leu71=) rs766800368 0.00001
NM_207122.2(EXT2):c.2136C>T (p.Phe712=) rs575302404 0.00001
NM_207122.2(EXT2):c.219C>T (p.Ala73=) rs774620075 0.00001
NM_207122.2(EXT2):c.246T>C (p.Asp82=) rs559280035 0.00001
NM_207122.2(EXT2):c.252T>C (p.Ser84=) rs1463030663 0.00001
NM_207122.2(EXT2):c.267G>A (p.Thr89=) rs1386417457 0.00001
NM_207122.2(EXT2):c.408C>T (p.Ala136=) rs777178095 0.00001
NM_207122.2(EXT2):c.537-19A>G rs764148237 0.00001
NM_207122.2(EXT2):c.678C>T (p.Tyr226=) rs1406801697 0.00001
NM_207122.2(EXT2):c.744-11T>A rs754484381 0.00001
NM_207122.2(EXT2):c.753A>G (p.Gln251=) rs1310756667 0.00001
NM_207122.2(EXT2):c.936A>G (p.Leu312=) rs760218623 0.00001
NM_207122.2(EXT2):c.940-9T>C rs374555467 0.00001
NM_207122.2(EXT2):c.9G>A (p.Ala3=) rs774142487 0.00001
NM_000127.3(EXT1):c.1038A>G (p.Arg346=) rs2129791072
NM_000127.3(EXT1):c.1050T>G (p.Ala350=) rs751521449
NM_000127.3(EXT1):c.1101A>G (p.Pro367=)
NM_000127.3(EXT1):c.1134C>T (p.Ala378=)
NM_000127.3(EXT1):c.1137C>T (p.Val379=)
NM_000127.3(EXT1):c.1164+15G>A
NM_000127.3(EXT1):c.1165-4A>G
NM_000127.3(EXT1):c.1231T>C (p.Leu411=)
NM_000127.3(EXT1):c.1239G>A (p.Glu413=) rs756701753
NM_000127.3(EXT1):c.1263G>A (p.Lys421=) rs2129772013
NM_000127.3(EXT1):c.1269A>G (p.Val423=)
NM_000127.3(EXT1):c.1284+12del
NM_000127.3(EXT1):c.1284+20T>C
NM_000127.3(EXT1):c.1284+7G>A
NM_000127.3(EXT1):c.1285-6T>G
NM_000127.3(EXT1):c.1297A>C (p.Arg433=) rs1037557280
NM_000127.3(EXT1):c.1368A>G (p.Pro456=)
NM_000127.3(EXT1):c.1383T>C (p.Tyr461=)
NM_000127.3(EXT1):c.1417+16C>T
NM_000127.3(EXT1):c.1417+19G>C
NM_000127.3(EXT1):c.1418-13C>T
NM_000127.3(EXT1):c.1418-13_1418-11del rs1203626052
NM_000127.3(EXT1):c.1418-20T>C rs376258820
NM_000127.3(EXT1):c.1418-7A>G
NM_000127.3(EXT1):c.1418-8T>G
NM_000127.3(EXT1):c.141C>T (p.His47=)
NM_000127.3(EXT1):c.1425G>A (p.Lys475=) rs1442814688
NM_000127.3(EXT1):c.1458G>A (p.Ala486=) rs765275156
NM_000127.3(EXT1):c.147C>T (p.Pro49=) rs1248782526
NM_000127.3(EXT1):c.1503C>T (p.Leu501=) rs146108006
NM_000127.3(EXT1):c.1515C>A (p.Ala505=) rs2129740778
NM_000127.3(EXT1):c.1536+11A>G
NM_000127.3(EXT1):c.153G>A (p.Pro51=)
NM_000127.3(EXT1):c.1599T>C (p.Ala533=)
NM_000127.3(EXT1):c.1611C>T (p.Val537=)
NM_000127.3(EXT1):c.1632+10G>A
NM_000127.3(EXT1):c.1632+16G>A
NM_000127.3(EXT1):c.1632+16G>C
NM_000127.3(EXT1):c.1632+9C>A rs368634215
NM_000127.3(EXT1):c.1633-14C>G
NM_000127.3(EXT1):c.1633-15T>A
NM_000127.3(EXT1):c.1633-16T>C
NM_000127.3(EXT1):c.1635T>G (p.Val545=)
NM_000127.3(EXT1):c.166C>G (p.Pro56Ala) rs368004125
NM_000127.3(EXT1):c.1677C>T (p.Asp559=) rs752594306
NM_000127.3(EXT1):c.1722+11A>G
NM_000127.3(EXT1):c.1723-17T>A rs2129702062
NM_000127.3(EXT1):c.1731C>T (p.Phe577=)
NM_000127.3(EXT1):c.1842C>T (p.Asn614=)
NM_000127.3(EXT1):c.1845C>T (p.Asp615=) rs2129701116
NM_000127.3(EXT1):c.1848C>T (p.Tyr616=)
NM_000127.3(EXT1):c.1872T>C (p.Ala624=) rs1823251633
NM_000127.3(EXT1):c.1883+14A>T
NM_000127.3(EXT1):c.1887T>C (p.Tyr629=) rs1823215215
NM_000127.3(EXT1):c.1944A>G (p.Gln648=)
NM_000127.3(EXT1):c.1945T>C (p.Leu649=)
NM_000127.3(EXT1):c.1983G>A (p.Val661=) rs962526270
NM_000127.3(EXT1):c.1998A>G (p.Lys666=)
NM_000127.3(EXT1):c.2016G>A (p.Val672=)
NM_000127.3(EXT1):c.2043A>T (p.Thr681=) rs746481404
NM_000127.3(EXT1):c.2055+10G>A
NM_000127.3(EXT1):c.2055+20del
NM_000127.3(EXT1):c.2056-14C>G
NM_000127.3(EXT1):c.2056-14C>T rs759290391
NM_000127.3(EXT1):c.2067T>G (p.Ala689=)
NM_000127.3(EXT1):c.2079T>C (p.Ala693=)
NM_000127.3(EXT1):c.211T>C (p.Leu71=)
NM_000127.3(EXT1):c.2179G>A (p.Val727Ile)
NM_000127.3(EXT1):c.2199C>T (p.Val733=) rs201230140
NM_000127.3(EXT1):c.240T>C (p.Ile80=)
NM_000127.3(EXT1):c.243C>A (p.Ser81=) rs916118962
NM_000127.3(EXT1):c.315T>C (p.Asp105=)
NM_000127.3(EXT1):c.384C>G (p.Ala128=)
NM_000127.3(EXT1):c.414C>T (p.Ile138=)
NM_000127.3(EXT1):c.423C>T (p.Ser141=) rs2130043533
NM_000127.3(EXT1):c.441C>T (p.Asp147=)
NM_000127.3(EXT1):c.453G>C (p.Ala151=) rs780843781
NM_000127.3(EXT1):c.465C>T (p.Val155=)
NM_000127.3(EXT1):c.528C>G (p.Ser176=)
NM_000127.3(EXT1):c.558T>C (p.Asn186=) rs1817877428
NM_000127.3(EXT1):c.582T>C (p.Asn194=)
NM_000127.3(EXT1):c.615G>A (p.Glu205=)
NM_000127.3(EXT1):c.648G>A (p.Leu216=) rs2130042468
NM_000127.3(EXT1):c.663C>T (p.Ile221=)
NM_000127.3(EXT1):c.678C>T (p.Phe226=)
NM_000127.3(EXT1):c.726C>T (p.Pro242=)
NM_000127.3(EXT1):c.765C>G (p.Thr255=)
NM_000127.3(EXT1):c.774T>A (p.Pro258=)
NM_000127.3(EXT1):c.783G>A (p.Lys261=)
NM_000127.3(EXT1):c.792G>A (p.Leu264=)
NM_000127.3(EXT1):c.855C>T (p.His285=)
NM_000127.3(EXT1):c.962+17del
NM_000127.3(EXT1):c.962+18C>T
NM_000127.3(EXT1):c.962+7G>A rs778490814
NM_000127.3(EXT1):c.963-13C>T
NM_000127.3(EXT1):c.963-14T>G
NM_000127.3(EXT1):c.963-15C>T
NM_000127.3(EXT1):c.963-7dup rs2129791582
NM_000127.3(EXT1):c.969T>C (p.Asp323=)
NM_000127.3(EXT1):c.96G>A (p.Arg32=)
NM_000127.3(EXT1):c.978A>G (p.Glu326=) rs2129791475
NM_002334.4(LRP4):c.1026C>T (p.Asp342=)
NM_002334.4(LRP4):c.1029A>G (p.Glu343=) rs761739869
NM_002334.4(LRP4):c.1048+13A>G
NM_002334.4(LRP4):c.1049-10G>C rs2134853583
NM_002334.4(LRP4):c.1049-20C>T
NM_002334.4(LRP4):c.1074C>T (p.Cys358=)
NM_002334.4(LRP4):c.1095T>C (p.Cys365=)
NM_002334.4(LRP4):c.1146A>G (p.Thr382=) rs2134853133
NM_002334.4(LRP4):c.1176G>A (p.Thr392=)
NM_002334.4(LRP4):c.1184-18C>T
NM_002334.4(LRP4):c.1184-5C>T
NM_002334.4(LRP4):c.1218C>T (p.Ser406=) rs2134851406
NM_002334.4(LRP4):c.1236C>T (p.Ser412=)
NM_002334.4(LRP4):c.1302G>A (p.Lys434=)
NM_002334.4(LRP4):c.1306C>T (p.Leu436=) rs368827270
NM_002334.4(LRP4):c.1317G>A (p.Glu439=)
NM_002334.4(LRP4):c.1320T>C (p.Pro440=)
NM_002334.4(LRP4):c.1341C>T (p.Arg447=)
NM_002334.4(LRP4):c.135C>T (p.Ile45=)
NM_002334.4(LRP4):c.1371C>A (p.Arg457=)
NM_002334.4(LRP4):c.1503C>T (p.Asn501=)
NM_002334.4(LRP4):c.1509G>A (p.Glu503=)
NM_002334.4(LRP4):c.1540+13G>A
NM_002334.4(LRP4):c.1540+17C>A
NM_002334.4(LRP4):c.1540+18A>G
NM_002334.4(LRP4):c.1540+9C>T
NM_002334.4(LRP4):c.1541-16T>C
NM_002334.4(LRP4):c.1542G>T (p.Gly514=)
NM_002334.4(LRP4):c.1546C>T (p.Leu516=) rs1592539185
NM_002334.4(LRP4):c.1584C>A (p.Thr528=) rs574108233
NM_002334.4(LRP4):c.1626G>A (p.Gly542=)
NM_002334.4(LRP4):c.1629C>T (p.Ala543=)
NM_002334.4(LRP4):c.1697+19T>C
NM_002334.4(LRP4):c.1755T>C (p.Asp585=)
NM_002334.4(LRP4):c.1758C>T (p.Gly586=)
NM_002334.4(LRP4):c.1764A>G (p.Gly588=)
NM_002334.4(LRP4):c.1803T>C (p.Asn601=)
NM_002334.4(LRP4):c.1833T>C (p.Arg611=)
NM_002334.4(LRP4):c.183C>T (p.Ser61=)
NM_002334.4(LRP4):c.1854G>A (p.Lys618=)
NM_002334.4(LRP4):c.1915+8C>A
NM_002334.4(LRP4):c.1920C>T (p.Leu640=)
NM_002334.4(LRP4):c.1953C>T (p.Asp651=)
NM_002334.4(LRP4):c.1980C>A (p.Thr660=)
NM_002334.4(LRP4):c.199+12C>T
NM_002334.4(LRP4):c.1995C>T (p.Ser665=)
NM_002334.4(LRP4):c.200-26TTTTC[2] rs760673637
NM_002334.4(LRP4):c.200-26TTTTC[4]
NM_002334.4(LRP4):c.2001C>T (p.Asn667=)
NM_002334.4(LRP4):c.2028C>A (p.Ile676=)
NM_002334.4(LRP4):c.2028C>T (p.Ile676=) rs1941385384
NM_002334.4(LRP4):c.2043C>G (p.Leu681=)
NM_002334.4(LRP4):c.2073C>T (p.His691=)
NM_002334.4(LRP4):c.2092+12C>T
NM_002334.4(LRP4):c.2092+18G>A
NM_002334.4(LRP4):c.2092+20G>C
NM_002334.4(LRP4):c.2093-19C>T rs1181290875
NM_002334.4(LRP4):c.2130G>A (p.Thr710=) rs199674492
NM_002334.4(LRP4):c.2142G>T (p.Leu714=)
NM_002334.4(LRP4):c.2175C>T (p.Pro725=) rs369705661
NM_002334.4(LRP4):c.2178T>G (p.Thr726=) rs1941371842
NM_002334.4(LRP4):c.2216-18C>T
NM_002334.4(LRP4):c.2216-20C>A
NM_002334.4(LRP4):c.225C>T (p.Asp75=) rs1023732809
NM_002334.4(LRP4):c.2286G>T (p.Leu762=)
NM_002334.4(LRP4):c.2307G>A (p.Leu769=)
NM_002334.4(LRP4):c.2337C>T (p.Asp779=)
NM_002334.4(LRP4):c.2370A>G (p.Thr790=)
NM_002334.4(LRP4):c.2425-19A>G rs2134827879
NM_002334.4(LRP4):c.2425-6G>T rs1592532832
NM_002334.4(LRP4):c.2442T>C (p.Ser814=) rs2134827694
NM_002334.4(LRP4):c.2493C>T (p.Tyr831=) rs2134827587
NM_002334.4(LRP4):c.2506+8T>C
NM_002334.4(LRP4):c.2592C>T (p.Ile864=)
NM_002334.4(LRP4):c.2612+12C>T
NM_002334.4(LRP4):c.2612+15C>T rs926960884
NM_002334.4(LRP4):c.2613-11C>A
NM_002334.4(LRP4):c.2613-11_2613-7dup
NM_002334.4(LRP4):c.276G>A (p.Gly92=)
NM_002334.4(LRP4):c.2794C>T (p.Leu932=)
NM_002334.4(LRP4):c.2814+10del rs534937304
NM_002334.4(LRP4):c.2814+17_2814+39del
NM_002334.4(LRP4):c.2814+9G>A
NM_002334.4(LRP4):c.2815-16G>A rs1941096408
NM_002334.4(LRP4):c.2815-20_2815-17dup
NM_002334.4(LRP4):c.2835C>A (p.Leu945=)
NM_002334.4(LRP4):c.2835C>G (p.Leu945=) rs201362411
NM_002334.4(LRP4):c.2895C>G (p.Thr965=)
NM_002334.4(LRP4):c.2919G>T (p.Arg973=)
NM_002334.4(LRP4):c.2928G>T (p.Gly976=)
NM_002334.4(LRP4):c.2958G>A (p.Leu986=) rs541593593
NM_002334.4(LRP4):c.2979T>C (p.His993=)
NM_002334.4(LRP4):c.3004+13T>C
NM_002334.4(LRP4):c.3004+14G>C
NM_002334.4(LRP4):c.3004+18C>T rs2306028
NM_002334.4(LRP4):c.3004+19G>A
NM_002334.4(LRP4):c.3005-12C>T
NM_002334.4(LRP4):c.3005-4C>T
NM_002334.4(LRP4):c.3009T>C (p.Ser1003=)
NM_002334.4(LRP4):c.3045C>T (p.His1015=) rs2134807034
NM_002334.4(LRP4):c.306G>A (p.Glu102=)
NM_002334.4(LRP4):c.3136+16A>G
NM_002334.4(LRP4):c.3137-13C>T
NM_002334.4(LRP4):c.3137-15del rs2134802550
NM_002334.4(LRP4):c.3137-4G>A
NM_002334.4(LRP4):c.3137-4G>C
NM_002334.4(LRP4):c.3150C>T (p.Phe1050=) rs2134802462
NM_002334.4(LRP4):c.317-12C>G
NM_002334.4(LRP4):c.317-19G>A
NM_002334.4(LRP4):c.3216G>A (p.Val1072=)
NM_002334.4(LRP4):c.3222A>C (p.Val1074=)
NM_002334.4(LRP4):c.3228C>T (p.Ile1076=)
NM_002334.4(LRP4):c.3278-8C>T rs1941033938
NM_002334.4(LRP4):c.3333T>C (p.Asp1111=)
NM_002334.4(LRP4):c.3364+11C>T
NM_002334.4(LRP4):c.3364+17G>T
NM_002334.4(LRP4):c.3384G>C (p.Gly1128=)
NM_002334.4(LRP4):c.3387C>T (p.Leu1129=) rs2134800312
NM_002334.4(LRP4):c.33C>T (p.Gly11=)
NM_002334.4(LRP4):c.3528T>C (p.His1176=)
NM_002334.4(LRP4):c.3536+11_3536+12delinsAA rs2134799662
NM_002334.4(LRP4):c.3536+18C>T
NM_002334.4(LRP4):c.3597C>T (p.Gly1199=)
NM_002334.4(LRP4):c.3606C>T (p.Arg1202=)
NM_002334.4(LRP4):c.3673C>T (p.Leu1225=)
NM_002334.4(LRP4):c.3684C>T (p.Ala1228=)
NM_002334.4(LRP4):c.3696C>T (p.Thr1232=)
NM_002334.4(LRP4):c.3699+13T>C
NM_002334.4(LRP4):c.3699+19C>T
NM_002334.4(LRP4):c.3699+8C>T
NM_002334.4(LRP4):c.3699+9C>A
NM_002334.4(LRP4):c.3699+9C>T
NM_002334.4(LRP4):c.3700-10T>C rs975882066
NM_002334.4(LRP4):c.3705T>C (p.Ile1235=)
NM_002334.4(LRP4):c.3708G>A (p.Glu1236=) rs2134797059
NM_002334.4(LRP4):c.3765A>G (p.Pro1255=)
NM_002334.4(LRP4):c.3780G>T (p.Leu1260=)
NM_002334.4(LRP4):c.378G>T (p.Leu126=)
NM_002334.4(LRP4):c.3864C>T (p.Leu1288=)
NM_002334.4(LRP4):c.3926-17G>A
NM_002334.4(LRP4):c.3926-5A>G
NM_002334.4(LRP4):c.4032T>C (p.Asp1344=) rs2134794190
NM_002334.4(LRP4):c.4050C>G (p.Pro1350=) rs2134794079
NM_002334.4(LRP4):c.408C>T (p.Gly136=)
NM_002334.4(LRP4):c.4125C>T (p.Thr1375=) rs371098163
NM_002334.4(LRP4):c.4149G>A (p.Glu1383=) rs1181126034
NM_002334.4(LRP4):c.4182C>T (p.Ser1394=)
NM_002334.4(LRP4):c.4197C>G (p.Val1399=)
NM_002334.4(LRP4):c.4229+11C>T
NM_002334.4(LRP4):c.4229+15G>A
NM_002334.4(LRP4):c.4229+20C>G
NM_002334.4(LRP4):c.4230-10T>C rs1940930151
NM_002334.4(LRP4):c.4230-12G>A
NM_002334.4(LRP4):c.4278G>A (p.Gly1426=) rs1940926502
NM_002334.4(LRP4):c.431-3del rs562071882
NM_002334.4(LRP4):c.431-9T>A rs1941620373
NM_002334.4(LRP4):c.4320G>A (p.Arg1440=)
NM_002334.4(LRP4):c.4422G>A (p.Arg1474=)
NM_002334.4(LRP4):c.4485G>A (p.Lys1495=)
NM_002334.4(LRP4):c.4557C>A (p.Gly1519=)
NM_002334.4(LRP4):c.4563C>T (p.Thr1521=)
NM_002334.4(LRP4):c.4584-14_4584-10del rs748959880
NM_002334.4(LRP4):c.4584-16_4584-15del rs768340393
NM_002334.4(LRP4):c.4602G>A (p.Ala1534=)
NM_002334.4(LRP4):c.4693-11C>T rs1409382852
NM_002334.4(LRP4):c.4693-12C>G
NM_002334.4(LRP4):c.4693-12C>T
NM_002334.4(LRP4):c.4693-16T>C rs2134778241
NM_002334.4(LRP4):c.4728C>T (p.Thr1576=) rs200270681
NM_002334.4(LRP4):c.4737C>A (p.Ile1579=)
NM_002334.4(LRP4):c.4837+8C>G rs1243774066
NM_002334.4(LRP4):c.4838-8G>A
NM_002334.4(LRP4):c.4839G>A (p.Gly1613=) rs2134776744
NM_002334.4(LRP4):c.489G>A (p.Glu163=) rs1941618309
NM_002334.4(LRP4):c.4952-10T>C
NM_002334.4(LRP4):c.4952-17T>C
NM_002334.4(LRP4):c.4952-19A>G rs772798728
NM_002334.4(LRP4):c.4952-20C>A
NM_002334.4(LRP4):c.5016C>A (p.Pro1672=) rs2134774940
NM_002334.4(LRP4):c.5049C>T (p.Thr1683=)
NM_002334.4(LRP4):c.507T>A (p.Gly169=) rs2134863376
NM_002334.4(LRP4):c.5087+12C>T
NM_002334.4(LRP4):c.5087+13A>G
NM_002334.4(LRP4):c.5087+14A>T rs376251083
NM_002334.4(LRP4):c.5088-6C>T
NM_002334.4(LRP4):c.5110C>T (p.Leu1704=)
NM_002334.4(LRP4):c.5136C>T (p.Asp1712=)
NM_002334.4(LRP4):c.513C>T (p.Thr171=)
NM_002334.4(LRP4):c.5155+16C>T
NM_002334.4(LRP4):c.5155+20C>G
NM_002334.4(LRP4):c.5156-11A>G
NM_002334.4(LRP4):c.5244-6C>T
NM_002334.4(LRP4):c.5265T>G (p.Thr1755=)
NM_002334.4(LRP4):c.5298C>T (p.Asn1766=) rs2134760244
NM_002334.4(LRP4):c.53-12C>G
NM_002334.4(LRP4):c.53-15T>C
NM_002334.4(LRP4):c.53-6G>A
NM_002334.4(LRP4):c.5307C>T (p.Tyr1769=)
NM_002334.4(LRP4):c.5308C>A (p.Arg1770=)
NM_002334.4(LRP4):c.5316C>T (p.Ser1772=) rs750830696
NM_002334.4(LRP4):c.5319A>G (p.Thr1773=)
NM_002334.4(LRP4):c.5386-4C>G
NM_002334.4(LRP4):c.5409C>T (p.Thr1803=)
NM_002334.4(LRP4):c.547+14G>A
NM_002334.4(LRP4):c.547+14G>C rs1243797516
NM_002334.4(LRP4):c.548-19A>T
NM_002334.4(LRP4):c.5493C>T (p.Ser1831=) rs911721294
NM_002334.4(LRP4):c.5499G>C (p.Arg1833=) rs2134750971
NM_002334.4(LRP4):c.5505C>G (p.Gly1835=)
NM_002334.4(LRP4):c.5508C>T (p.Leu1836=)
NM_002334.4(LRP4):c.5532G>A (p.Lys1844=)
NM_002334.4(LRP4):c.5538C>T (p.Asp1846=)
NM_002334.4(LRP4):c.5541G>T (p.Thr1847=)
NM_002334.4(LRP4):c.5550C>T (p.Ile1850=)
NM_002334.4(LRP4):c.5610G>A (p.Gln1870=)
NM_002334.4(LRP4):c.5613T>C (p.Ser1871=)
NM_002334.4(LRP4):c.5715C>G (p.Val1905=) rs2134750322
NM_002334.4(LRP4):c.591G>A (p.Gln197=) rs1199299804
NM_002334.4(LRP4):c.600T>C (p.Tyr200=)
NM_002334.4(LRP4):c.624C>T (p.Tyr208=)
NM_002334.4(LRP4):c.677-13T>C
NM_002334.4(LRP4):c.677-6C>T
NM_002334.4(LRP4):c.677-7T>G rs1244833731
NM_002334.4(LRP4):c.69C>G (p.Pro23=)
NM_002334.4(LRP4):c.69C>T (p.Pro23=) rs370359994
NM_002334.4(LRP4):c.708C>T (p.Phe236=) rs2134861393
NM_002334.4(LRP4):c.717C>T (p.Asp239=)
NM_002334.4(LRP4):c.762G>A (p.Ala254=)
NM_002334.4(LRP4):c.774C>T (p.Asp258=) rs2134861192
NM_002334.4(LRP4):c.786G>A (p.Glu262=)
NM_002334.4(LRP4):c.796+18A>T
NM_002334.4(LRP4):c.796+20T>C
NM_002334.4(LRP4):c.796+7G>A
NM_002334.4(LRP4):c.798C>T (p.Thr266=) rs2134856058
NM_002334.4(LRP4):c.873G>A (p.Gly291=)
NM_002334.4(LRP4):c.879C>T (p.Asp293=)
NM_002334.4(LRP4):c.897C>T (p.Ser299=)
NM_002334.4(LRP4):c.922+13G>C
NM_002334.4(LRP4):c.923-11C>T
NM_002334.4(LRP4):c.923-14del
NM_002334.4(LRP4):c.923-8C>T
NM_002334.4(LRP4):c.996C>T (p.Asn332=)
NM_003900.5(SQSTM1):c.1002A>T (p.Gly334=)
NM_003900.5(SQSTM1):c.1008T>C (p.Asp336=)
NM_003900.5(SQSTM1):c.1050A>C (p.Thr350=) rs2113512674
NM_003900.5(SQSTM1):c.1089G>A (p.Gly363=) rs2113512810
NM_003900.5(SQSTM1):c.1095C>T (p.Ser365=)
NM_003900.5(SQSTM1):c.1128G>A (p.Gly376=) rs569052431
NM_003900.5(SQSTM1):c.1134G>A (p.Lys378=) rs778833279
NM_003900.5(SQSTM1):c.1146G>A (p.Leu382=)
NM_003900.5(SQSTM1):c.1149C>T (p.Tyr383=)
NM_003900.5(SQSTM1):c.114G>T (p.Ala38=)
NM_003900.5(SQSTM1):c.1152A>C (p.Pro384=) rs944423329
NM_003900.5(SQSTM1):c.1152A>G (p.Pro384=)
NM_003900.5(SQSTM1):c.1158C>T (p.Leu386=)
NM_003900.5(SQSTM1):c.1161G>A (p.Pro387=) rs372271201
NM_003900.5(SQSTM1):c.1161G>T (p.Pro387=)
NM_003900.5(SQSTM1):c.1165+10C>T
NM_003900.5(SQSTM1):c.1165+12A>G
NM_003900.5(SQSTM1):c.1165+7G>T
NM_003900.5(SQSTM1):c.1165+9del
NM_003900.5(SQSTM1):c.1166-12C>T rs201463748
NM_003900.5(SQSTM1):c.1166-20C>T
NM_003900.5(SQSTM1):c.1170T>C (p.Ala390=) rs1440412378
NM_003900.5(SQSTM1):c.117G>A (p.Ala39=) rs1449666849
NM_003900.5(SQSTM1):c.1188G>A (p.Glu396=)
NM_003900.5(SQSTM1):c.1201A>T (p.Met401Leu) rs201795943
NM_003900.5(SQSTM1):c.1207T>A (p.Ser403Thr)
NM_003900.5(SQSTM1):c.1215C>G (p.Gly405=) rs368933511
NM_003900.5(SQSTM1):c.1242C>A (p.Thr414=) rs1554092111
NM_003900.5(SQSTM1):c.1249C>T (p.Leu417=)
NM_003900.5(SQSTM1):c.1263C>T (p.Asn421=) rs1383894920
NM_003900.5(SQSTM1):c.1269C>T (p.Asp423=)
NM_003900.5(SQSTM1):c.1302A>C (p.Ser434=)
NM_003900.5(SQSTM1):c.1314G>C (p.Pro438=)
NM_003900.5(SQSTM1):c.1317G>A (p.Pro439=)
NM_003900.5(SQSTM1):c.1317G>C (p.Pro439=)
NM_003900.5(SQSTM1):c.1320G>A (p.Leu440=) rs753600779
NM_003900.5(SQSTM1):c.147C>T (p.Ser49=) rs1258824064
NM_003900.5(SQSTM1):c.15C>T (p.Thr5=) rs756670021
NM_003900.5(SQSTM1):c.165C>T (p.Phe55=) rs886060501
NM_003900.5(SQSTM1):c.171G>T (p.Ala57=)
NM_003900.5(SQSTM1):c.183C>A (p.Gly61=) rs767340839
NM_003900.5(SQSTM1):c.186C>T (p.Gly62=)
NM_003900.5(SQSTM1):c.192G>A (p.Gln64=)
NM_003900.5(SQSTM1):c.195G>T (p.Ala65=)
NM_003900.5(SQSTM1):c.205+11C>G
NM_003900.5(SQSTM1):c.205+12G>C rs869101530
NM_003900.5(SQSTM1):c.205+12G>T rs869101530
NM_003900.5(SQSTM1):c.205+14G>A
NM_003900.5(SQSTM1):c.205+14G>C
NM_003900.5(SQSTM1):c.205+16A>C
NM_003900.5(SQSTM1):c.205+18C>G rs1757759662
NM_003900.5(SQSTM1):c.205+18C>T
NM_003900.5(SQSTM1):c.205+19G>T
NM_003900.5(SQSTM1):c.205+7G>A rs912066047
NM_003900.5(SQSTM1):c.205+7G>T
NM_003900.5(SQSTM1):c.206-11A>G
NM_003900.5(SQSTM1):c.206-4C>G rs370778198
NM_003900.5(SQSTM1):c.206-4C>T rs370778198
NM_003900.5(SQSTM1):c.206-7_206-4del rs779766449
NM_003900.5(SQSTM1):c.206-8C>T
NM_003900.5(SQSTM1):c.24C>T (p.Ala8=)
NM_003900.5(SQSTM1):c.252A>C (p.Thr84=) rs752464933
NM_003900.5(SQSTM1):c.301+10T>A
NM_003900.5(SQSTM1):c.301+12C>T rs141530539
NM_003900.5(SQSTM1):c.301+13_301+24del rs1582006453
NM_003900.5(SQSTM1):c.301+20G>A
NM_003900.5(SQSTM1):c.302-10C>A
NM_003900.5(SQSTM1):c.302-10C>T
NM_003900.5(SQSTM1):c.302-11C>T
NM_003900.5(SQSTM1):c.302-13A>G
NM_003900.5(SQSTM1):c.302-15T>C
NM_003900.5(SQSTM1):c.302-20T>C
NM_003900.5(SQSTM1):c.302-4G>A rs1757883398
NM_003900.5(SQSTM1):c.312G>A (p.Glu104=)
NM_003900.5(SQSTM1):c.31C>T (p.Leu11=)
NM_003900.5(SQSTM1):c.327C>T (p.His109=) rs2113487546
NM_003900.5(SQSTM1):c.333A>C (p.Pro111=)
NM_003900.5(SQSTM1):c.336G>A (p.Pro112=)
NM_003900.5(SQSTM1):c.339T>C (p.Cys113=)
NM_003900.5(SQSTM1):c.36C>G (p.Gly12=)
NM_003900.5(SQSTM1):c.375T>C (p.Asn125=) rs2113487764
NM_003900.5(SQSTM1):c.387T>C (p.Asp129=)
NM_003900.5(SQSTM1):c.402T>C (p.Pro134=)
NM_003900.5(SQSTM1):c.411A>G (p.Gly137=) rs2113487897
NM_003900.5(SQSTM1):c.429C>T (p.Ser143=) rs374417389
NM_003900.5(SQSTM1):c.462C>T (p.Cys154=) rs775988188
NM_003900.5(SQSTM1):c.465G>A (p.Glu155=)
NM_003900.5(SQSTM1):c.480C>T (p.His160=)
NM_003900.5(SQSTM1):c.486G>A (p.Gly162=) rs1284664878
NM_003900.5(SQSTM1):c.489C>T (p.His163=)
NM_003900.5(SQSTM1):c.522C>T (p.His174=)
NM_003900.5(SQSTM1):c.531+14C>G
NM_003900.5(SQSTM1):c.531+15dup rs2113488538
NM_003900.5(SQSTM1):c.531+16G>A
NM_003900.5(SQSTM1):c.531+16G>T
NM_003900.5(SQSTM1):c.531+7A>G rs2113488503
NM_003900.5(SQSTM1):c.532-18T>C
NM_003900.5(SQSTM1):c.532-5C>T
NM_003900.5(SQSTM1):c.532-6C>T rs2113488787
NM_003900.5(SQSTM1):c.532-7C>A rs770329828
NM_003900.5(SQSTM1):c.532-9C>T
NM_003900.5(SQSTM1):c.579C>T (p.Phe193=)
NM_003900.5(SQSTM1):c.57G>A (p.Glu19=) rs1582002994
NM_003900.5(SQSTM1):c.588A>G (p.Pro196=)
NM_003900.5(SQSTM1):c.606A>G (p.Pro202=) rs2113489068
NM_003900.5(SQSTM1):c.609A>G (p.Pro203=) rs1253593077
NM_003900.5(SQSTM1):c.615C>T (p.Asn205=) rs771036207
NM_003900.5(SQSTM1):c.621C>T (p.Ser207=)
NM_003900.5(SQSTM1):c.639A>G (p.Ala213=)
NM_003900.5(SQSTM1):c.654T>C (p.Pro218=) rs2113489256
NM_003900.5(SQSTM1):c.673+15G>A
NM_003900.5(SQSTM1):c.673+19C>A
NM_003900.5(SQSTM1):c.673+19C>T
NM_003900.5(SQSTM1):c.673+9T>G rs2113489349
NM_003900.5(SQSTM1):c.674-11A>G
NM_003900.5(SQSTM1):c.674-13G>A rs2113491112
NM_003900.5(SQSTM1):c.674-5C>T
NM_003900.5(SQSTM1):c.684A>G (p.Pro228=)
NM_003900.5(SQSTM1):c.687G>C (p.Ser229=) rs140341924
NM_003900.5(SQSTM1):c.69C>T (p.Phe23=) rs766419538
NM_003900.5(SQSTM1):c.705T>C (p.Asn235=)
NM_003900.5(SQSTM1):c.723G>A (p.Gly241=) rs889431769
NM_003900.5(SQSTM1):c.726G>A (p.Glu242=)
NM_003900.5(SQSTM1):c.751C>T (p.Leu251=)
NM_003900.5(SQSTM1):c.754+11C>G
NM_003900.5(SQSTM1):c.754+11C>T
NM_003900.5(SQSTM1):c.754+13C>A rs1232662115
NM_003900.5(SQSTM1):c.754+18C>T
NM_003900.5(SQSTM1):c.755-12C>T rs1043468451
NM_003900.5(SQSTM1):c.755-13C>T
NM_003900.5(SQSTM1):c.755-20C>G
NM_003900.5(SQSTM1):c.755-4C>T
NM_003900.5(SQSTM1):c.755-6C>T
NM_003900.5(SQSTM1):c.755-8G>T rs369581639
NM_003900.5(SQSTM1):c.771C>T (p.Ile257=) rs372827450
NM_003900.5(SQSTM1):c.786A>G (p.Gly262=) rs1214357767
NM_003900.5(SQSTM1):c.78C>T (p.Cys26=) rs2113479661
NM_003900.5(SQSTM1):c.837G>A (p.Glu279=) rs2113510724
NM_003900.5(SQSTM1):c.84C>T (p.Ser28=)
NM_003900.5(SQSTM1):c.885G>A (p.Lys295=) rs2113510916
NM_003900.5(SQSTM1):c.888G>T (p.Pro296=) rs148984239
NM_003900.5(SQSTM1):c.918T>C (p.Ser306=)
NM_003900.5(SQSTM1):c.919C>T (p.Leu307=)
NM_003900.5(SQSTM1):c.921G>A (p.Leu307=)
NM_003900.5(SQSTM1):c.934A>C (p.Arg312=)
NM_003900.5(SQSTM1):c.960G>A (p.Gly320=)
NM_003900.5(SQSTM1):c.969+14C>T
NM_003900.5(SQSTM1):c.96G>A (p.Glu32=)
NM_003900.5(SQSTM1):c.970-13A>G rs1013927869
NM_003900.5(SQSTM1):c.970-4C>T
NM_003900.5(SQSTM1):c.970-8T>C
NM_003900.5(SQSTM1):c.9G>A (p.Ser3=)
NM_031471.6(FERMT3):c.100C>T (p.Leu34=)
NM_031471.6(FERMT3):c.1011G>A (p.Ser337=)
NM_031471.6(FERMT3):c.1029+11G>C
NM_031471.6(FERMT3):c.1029+20A>G
NM_031471.6(FERMT3):c.1030-12G>A
NM_031471.6(FERMT3):c.1030-16T>G
NM_031471.6(FERMT3):c.1030-20T>C rs2134881481
NM_031471.6(FERMT3):c.1050A>G (p.Pro350=) rs2134881613
NM_031471.6(FERMT3):c.1079+10G>T
NM_031471.6(FERMT3):c.1080-12C>T
NM_031471.6(FERMT3):c.1080-15C>T rs2134882329
NM_031471.6(FERMT3):c.1080-16C>G
NM_031471.6(FERMT3):c.1080-18C>A
NM_031471.6(FERMT3):c.1095C>T (p.Thr365=) rs2134882623
NM_031471.6(FERMT3):c.111T>C (p.Thr37=)
NM_031471.6(FERMT3):c.1128C>T (p.Phe376=)
NM_031471.6(FERMT3):c.1164C>T (p.Asp388=)
NM_031471.6(FERMT3):c.1170C>G (p.Ala390=)
NM_031471.6(FERMT3):c.1192C>T (p.Leu398Phe) rs780759663
NM_031471.6(FERMT3):c.1205-7C>T rs2134884288
NM_031471.6(FERMT3):c.1230C>T (p.Asn410=)
NM_031471.6(FERMT3):c.1311+10G>A
NM_031471.6(FERMT3):c.1311+11dup
NM_031471.6(FERMT3):c.1311+9G>A rs111309375
NM_031471.6(FERMT3):c.1312-13C>T
NM_031471.6(FERMT3):c.1312-18C>T
NM_031471.6(FERMT3):c.1314G>A (p.Glu438=) rs2134885222
NM_031471.6(FERMT3):c.1362C>G (p.Gly454=) rs2134885437
NM_031471.6(FERMT3):c.1374C>G (p.Ala458=) rs762230079
NM_031471.6(FERMT3):c.1389C>T (p.Thr463=) rs753535248
NM_031471.6(FERMT3):c.138C>G (p.Leu46=) rs765072715
NM_031471.6(FERMT3):c.1392C>T (p.Ser464=)
NM_031471.6(FERMT3):c.1408C>T (p.Leu470=) rs751370857
NM_031471.6(FERMT3):c.1443G>C (p.Gly481=)
NM_031471.6(FERMT3):c.144G>A (p.Lys48=) rs369062120
NM_031471.6(FERMT3):c.1512C>T (p.Ala504=)
NM_031471.6(FERMT3):c.1545+10G>A rs1591040541
NM_031471.6(FERMT3):c.1545+14T>C
NM_031471.6(FERMT3):c.1545+17G>C
NM_031471.6(FERMT3):c.1548C>A (p.Leu516=) rs777931977
NM_031471.6(FERMT3):c.1578T>C (p.Asn526=) rs1288349776
NM_031471.6(FERMT3):c.1593G>A (p.Ser531=)
NM_031471.6(FERMT3):c.1593G>T (p.Ser531=)
NM_031471.6(FERMT3):c.1596G>A (p.Leu532=)
NM_031471.6(FERMT3):c.160+17C>G rs1009780479
NM_031471.6(FERMT3):c.161-16C>T
NM_031471.6(FERMT3):c.161-20T>C
NM_031471.6(FERMT3):c.1620C>T (p.Ile540=)
NM_031471.6(FERMT3):c.1650C>T (p.Gly550=) rs957232636
NM_031471.6(FERMT3):c.1670+10C>T rs2134888721
NM_031471.6(FERMT3):c.1670+19C>A
NM_031471.6(FERMT3):c.1671-18T>A
NM_031471.6(FERMT3):c.1671-19C>G
NM_031471.6(FERMT3):c.1686G>A (p.Arg562=)
NM_031471.6(FERMT3):c.1701G>A (p.Leu567=)
NM_031471.6(FERMT3):c.1725C>A (p.Ile575=)
NM_031471.6(FERMT3):c.1740C>T (p.Ala580=)
NM_031471.6(FERMT3):c.1743G>T (p.Val581=) rs1565299087
NM_031471.6(FERMT3):c.1812+12C>T rs1282201698
NM_031471.6(FERMT3):c.1812+13C>A
NM_031471.6(FERMT3):c.1812+18G>A rs756907795
NM_031471.6(FERMT3):c.1812+8C>T
NM_031471.6(FERMT3):c.1813-17C>T rs1419820066
NM_031471.6(FERMT3):c.1839C>T (p.Ile613=)
NM_031471.6(FERMT3):c.1857C>T (p.Cys619=)
NM_031471.6(FERMT3):c.1866C>T (p.Ala622=) rs772395750
NM_031471.6(FERMT3):c.18A>G (p.Thr6=)
NM_031471.6(FERMT3):c.1908C>T (p.Phe636=)
NM_031471.6(FERMT3):c.1911G>A (p.Leu637=)
NM_031471.6(FERMT3):c.1914G>A (p.Ser638=)
NM_031471.6(FERMT3):c.1918C>A (p.Arg640=)
NM_031471.6(FERMT3):c.1926G>C (p.Arg642=)
NM_031471.6(FERMT3):c.1977C>T (p.Gly659=)
NM_031471.6(FERMT3):c.219G>A (p.Leu73=) rs2134841789
NM_031471.6(FERMT3):c.228C>T (p.Thr76=)
NM_031471.6(FERMT3):c.24C>T (p.Ser8=) rs1258498079
NM_031471.6(FERMT3):c.258G>A (p.Leu86=)
NM_031471.6(FERMT3):c.273C>T (p.Leu91=)
NM_031471.6(FERMT3):c.27G>T (p.Gly9=) rs147987989
NM_031471.6(FERMT3):c.294G>A (p.Arg98=)
NM_031471.6(FERMT3):c.351C>G (p.Ser117=)
NM_031471.6(FERMT3):c.357C>T (p.Pro119=)
NM_031471.6(FERMT3):c.36C>T (p.Ile12=)
NM_031471.6(FERMT3):c.394+11C>T
NM_031471.6(FERMT3):c.394+19T>G
NM_031471.6(FERMT3):c.420C>T (p.Ser140=)
NM_031471.6(FERMT3):c.429G>C (p.Arg143=) rs2134843708
NM_031471.6(FERMT3):c.435T>C (p.Pro145=) rs2134843748
NM_031471.6(FERMT3):c.45A>G (p.Ser15=)
NM_031471.6(FERMT3):c.514+13G>T
NM_031471.6(FERMT3):c.514+15G>A
NM_031471.6(FERMT3):c.514+17G>A
NM_031471.6(FERMT3):c.514+20G>A
NM_031471.6(FERMT3):c.515-10T>G
NM_031471.6(FERMT3):c.515-16C>G
NM_031471.6(FERMT3):c.531G>C (p.Leu177=) rs1397774460
NM_031471.6(FERMT3):c.534C>T (p.Phe178=)
NM_031471.6(FERMT3):c.540G>A (p.Gly180=)
NM_031471.6(FERMT3):c.552C>T (p.His184=) rs2134845391
NM_031471.6(FERMT3):c.564C>T (p.Ser188=)
NM_031471.6(FERMT3):c.609G>A (p.Pro203=)
NM_031471.6(FERMT3):c.657G>A (p.Leu219=) rs2134846219
NM_031471.6(FERMT3):c.683+19C>G rs759456987
NM_031471.6(FERMT3):c.684-10C>T rs201247420
NM_031471.6(FERMT3):c.684-6G>T
NM_031471.6(FERMT3):c.684-9G>A rs765206442
NM_031471.6(FERMT3):c.699G>T (p.Ser233=) rs750515226
NM_031471.6(FERMT3):c.700C>A (p.Arg234=) rs1260750258
NM_031471.6(FERMT3):c.702G>A (p.Arg234=) rs780592693
NM_031471.6(FERMT3):c.756G>A (p.Lys252=) rs2134847985
NM_031471.6(FERMT3):c.771C>T (p.Phe257=) rs368973559
NM_031471.6(FERMT3):c.786+16G>A
NM_031471.6(FERMT3):c.786+18G>A
NM_031471.6(FERMT3):c.787-10C>T
NM_031471.6(FERMT3):c.787-8C>G rs202116077
NM_031471.6(FERMT3):c.787-8C>T rs202116077
NM_031471.6(FERMT3):c.787-9C>T rs1399195192
NM_031471.6(FERMT3):c.834C>T (p.Asp278=)
NM_031471.6(FERMT3):c.843G>A (p.Leu281=)
NM_031471.6(FERMT3):c.861C>T (p.Thr287=)
NM_031471.6(FERMT3):c.87C>T (p.Ala29=)
NM_031471.6(FERMT3):c.891G>A (p.Leu297=) rs2134879914
NM_031471.6(FERMT3):c.894+20G>A
NM_031471.6(FERMT3):c.894+9C>A
NM_031471.6(FERMT3):c.895-19T>C rs1946625797
NM_031471.6(FERMT3):c.895-5C>T
NM_031471.6(FERMT3):c.90G>A (p.Glu30=)
NM_031471.6(FERMT3):c.912G>T (p.Leu304=) rs1946626509
NM_031471.6(FERMT3):c.930G>A (p.Val310=)
NM_031471.6(FERMT3):c.930G>T (p.Val310=) rs199508330
NM_031471.6(FERMT3):c.987C>T (p.Asn329=)
NM_031471.6(FERMT3):c.9G>A (p.Gly3=)
NM_207122.2(EXT2):c.1008A>G (p.Gln336=)
NM_207122.2(EXT2):c.1026T>C (p.Val342=)
NM_207122.2(EXT2):c.1044T>C (p.Tyr348=) rs2135020895
NM_207122.2(EXT2):c.1056C>T (p.Phe352=)
NM_207122.2(EXT2):c.1079+13T>C
NM_207122.2(EXT2):c.1079+17A>G
NM_207122.2(EXT2):c.1080-14G>A
NM_207122.2(EXT2):c.1083A>G (p.Ala361=)
NM_207122.2(EXT2):c.1128T>C (p.Ile376=)
NM_207122.2(EXT2):c.1149A>G (p.Arg383=)
NM_207122.2(EXT2):c.1167G>A (p.Gln389=) rs2135029434
NM_207122.2(EXT2):c.1173+17T>A
NM_207122.2(EXT2):c.1173+8G>A
NM_207122.2(EXT2):c.1173+9C>T
NM_207122.2(EXT2):c.1174-14T>A
NM_207122.2(EXT2):c.1174-19A>G
NM_207122.2(EXT2):c.117C>T (p.Ala39=) rs2134965644
NM_207122.2(EXT2):c.1221C>G (p.Ala407=)
NM_207122.2(EXT2):c.1221C>T (p.Ala407=) rs1315721028
NM_207122.2(EXT2):c.1233G>A (p.Leu411=)
NM_207122.2(EXT2):c.12G>A (p.Ser4=)
NM_207122.2(EXT2):c.1305+14A>G
NM_207122.2(EXT2):c.1306-13T>C rs749657208
NM_207122.2(EXT2):c.1306-14C>A
NM_207122.2(EXT2):c.1306-14C>T
NM_207122.2(EXT2):c.1306-8T>C
NM_207122.2(EXT2):c.1308G>A (p.Lys436=)
NM_207122.2(EXT2):c.1338C>T (p.Leu446=) rs1955474586
NM_207122.2(EXT2):c.1342C>T (p.Leu448=)
NM_207122.2(EXT2):c.1344G>A (p.Leu448=)
NM_207122.2(EXT2):c.1350A>G (p.Pro450=)
NM_207122.2(EXT2):c.1353A>G (p.Pro451=)
NM_207122.2(EXT2):c.1371C>T (p.Thr457=)
NM_207122.2(EXT2):c.1392C>T (p.Asp464=)
NM_207122.2(EXT2):c.1440C>T (p.Pro480=) rs2135185399
NM_207122.2(EXT2):c.1449C>T (p.Ser483=)
NM_207122.2(EXT2):c.147T>G (p.Ser49=)
NM_207122.2(EXT2):c.1495+12T>C
NM_207122.2(EXT2):c.1495+7dup rs1376958816
NM_207122.2(EXT2):c.1496-17C>A rs1370105753
NM_207122.2(EXT2):c.1518G>A (p.Arg506=)
NM_207122.2(EXT2):c.1524A>G (p.Pro508=)
NM_207122.2(EXT2):c.1524A>T (p.Pro508=)
NM_207122.2(EXT2):c.1525T>C (p.Leu509=)
NM_207122.2(EXT2):c.1575T>C (p.Pro525=) rs372914384
NM_207122.2(EXT2):c.1626T>A (p.Ile542=)
NM_207122.2(EXT2):c.1662+17_1662+18del
NM_207122.2(EXT2):c.1662+18A>G
NM_207122.2(EXT2):c.1662+20T>C
NM_207122.2(EXT2):c.1663-14G>A
NM_207122.2(EXT2):c.1669C>A (p.Arg557=) rs768532662
NM_207122.2(EXT2):c.1683C>T (p.Asp561=) rs1955909250
NM_207122.2(EXT2):c.1701G>A (p.Pro567=)
NM_207122.2(EXT2):c.1708C>T (p.Leu570=)
NM_207122.2(EXT2):c.1743G>A (p.Lys581=) rs772721212
NM_207122.2(EXT2):c.1752T>G (p.Ser584=)
NM_207122.2(EXT2):c.1764T>C (p.Asn588=) rs2135259732
NM_207122.2(EXT2):c.1773C>T (p.Ser591=)
NM_207122.2(EXT2):c.1782C>T (p.Leu594=)
NM_207122.2(EXT2):c.1803C>T (p.His601=) rs1590666591
NM_207122.2(EXT2):c.1806+16C>A
NM_207122.2(EXT2):c.1806+9G>T rs2135260004
NM_207122.2(EXT2):c.1860A>G (p.Val620=)
NM_207122.2(EXT2):c.1863T>C (p.Asp621=)
NM_207122.2(EXT2):c.18G>A (p.Lys6=) rs375300731
NM_207122.2(EXT2):c.1900C>T (p.Leu634=) rs1955932950
NM_207122.2(EXT2):c.1911C>T (p.Asn637=)
NM_207122.2(EXT2):c.1917G>A (p.Thr639=)
NM_207122.2(EXT2):c.192T>C (p.Arg64=) rs2134966282
NM_207122.2(EXT2):c.1935+19C>T
NM_207122.2(EXT2):c.1936-10C>T
NM_207122.2(EXT2):c.1936-12C>T
NM_207122.2(EXT2):c.1936-14T>C rs2135267767
NM_207122.2(EXT2):c.1959G>A (p.Lys653=)
NM_207122.2(EXT2):c.198G>C (p.Val66=) rs775542605
NM_207122.2(EXT2):c.2018+17C>A
NM_207122.2(EXT2):c.2028C>T (p.Cys676=)
NM_207122.2(EXT2):c.2046A>G (p.Ser682=)
NM_207122.2(EXT2):c.2103C>T (p.Tyr701=)
NM_207122.2(EXT2):c.210G>A (p.Arg70=)
NM_207122.2(EXT2):c.2130G>A (p.Lys710=) rs2135284224
NM_207122.2(EXT2):c.306C>T (p.Asn102=) rs2134967175
NM_207122.2(EXT2):c.315G>A (p.Lys105=)
NM_207122.2(EXT2):c.321T>C (p.Tyr107=)
NM_207122.2(EXT2):c.33T>C (p.Gly11=)
NM_207122.2(EXT2):c.393T>C (p.Asn131=)
NM_207122.2(EXT2):c.417C>T (p.Asp139=)
NM_207122.2(EXT2):c.423C>T (p.Asp141=) rs199916419
NM_207122.2(EXT2):c.456G>C (p.Leu152=)
NM_207122.2(EXT2):c.495G>A (p.Leu165=)
NM_207122.2(EXT2):c.516A>G (p.Gln172=)
NM_207122.2(EXT2):c.519G>A (p.Ala173=)
NM_207122.2(EXT2):c.520A>C (p.Met174Leu) rs111589746
NM_207122.2(EXT2):c.520A>T (p.Met174Leu) rs111589746
NM_207122.2(EXT2):c.534T>C (p.Ser178=)
NM_207122.2(EXT2):c.536+10A>T rs748432706
NM_207122.2(EXT2):c.536+14A>G
NM_207122.2(EXT2):c.536+15T>A
NM_207122.2(EXT2):c.536+17C>A
NM_207122.2(EXT2):c.536+19G>C
NM_207122.2(EXT2):c.536+20C>G
NM_207122.2(EXT2):c.536+7C>G rs755324495
NM_207122.2(EXT2):c.545G>T (p.Arg182Leu) rs563383543
NM_207122.2(EXT2):c.561G>C (p.Leu187=)
NM_207122.2(EXT2):c.570C>T (p.Asn190=)
NM_207122.2(EXT2):c.618C>A (p.Pro206=)
NM_207122.2(EXT2):c.626+14T>C
NM_207122.2(EXT2):c.626+19G>A rs370903897
NM_207122.2(EXT2):c.627-18A>G
NM_207122.2(EXT2):c.657G>A (p.Thr219=)
NM_207122.2(EXT2):c.669G>A (p.Arg223=) rs141410374
NM_207122.2(EXT2):c.687C>T (p.Ser229=) rs2134984902
NM_207122.2(EXT2):c.705A>G (p.Pro235=)
NM_207122.2(EXT2):c.717G>A (p.Glu239=)
NM_207122.2(EXT2):c.744-12T>C
NM_207122.2(EXT2):c.744-20C>T rs2135014483
NM_207122.2(EXT2):c.744-8C>T
NM_207122.2(EXT2):c.798A>G (p.Arg266=)
NM_207122.2(EXT2):c.84C>A (p.Thr28=)
NM_207122.2(EXT2):c.84C>T (p.Thr28=) rs1954077511
NM_207122.2(EXT2):c.939+11T>C
NM_207122.2(EXT2):c.939+14A>C
NM_207122.2(EXT2):c.940-13del rs765515424
NM_207122.2(EXT2):c.940-14T>G
NM_207122.2(EXT2):c.940-15T>C
NM_207122.2(EXT2):c.942G>A (p.Glu314=)
NM_207122.2(EXT2):c.951C>T (p.Phe317=) rs2135020214
NM_207122.2(EXT2):c.969A>G (p.Gly323=)

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