ClinVar Miner

List of variants reported as likely benign for Hereditary hemorrhagic telangiectasia by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 380
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300 0.00134
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669 0.00037
NM_001114753.3(ENG):c.1447G>A (p.Val483Ile) rs141330288 0.00034
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser) rs150932144 0.00034
NM_001114753.3(ENG):c.1258A>G (p.Met420Val) rs143724056 0.00029
NM_001114753.3(ENG):c.1095C>T (p.Asp365=) rs142803546 0.00026
NM_001114753.3(ENG):c.1312-12G>A rs201684408 0.00026
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys) rs139334561 0.00024
NM_001114753.3(ENG):c.-120G>T rs565259710 0.00022
NM_001114753.3(ENG):c.-70C>T rs562538400 0.00020
NM_001114753.3(ENG):c.1686+6T>G rs369766351 0.00019
NM_001114753.3(ENG):c.250G>C (p.Ala84Pro) rs369456364 0.00019
NM_001114753.3(ENG):c.954G>A (p.Pro318=) rs149590262 0.00019
NM_001114753.3(ENG):c.1134+9A>T rs200780733 0.00018
NM_001114753.3(ENG):c.291G>C (p.Leu97=) rs376641299 0.00016
NM_001114753.3(ENG):c.321G>T (p.Leu107=) rs767907933 0.00015
NM_001114753.3(ENG):c.694C>T (p.Arg232Trp) rs200372420 0.00014
NM_001114753.3(ENG):c.306C>T (p.Asn102=) rs148098047 0.00012
NM_001114753.3(ENG):c.726C>T (p.Cys242=) rs545465750 0.00012
NM_001114753.3(ENG):c.1135-8C>T rs79426098 0.00011
NM_001114753.3(ENG):c.850G>A (p.Glu284Lys) rs372045549 0.00010
NM_001114753.3(ENG):c.1015G>A (p.Ala339Thr) rs761463410 0.00008
NM_001114753.3(ENG):c.1098C>T (p.Asp366=) rs201497772 0.00008
NM_001114753.3(ENG):c.1259T>C (p.Met420Thr) rs766272638 0.00008
NM_001114753.3(ENG):c.1852+21C>G rs147188969 0.00008
NM_001114753.3(ENG):c.690-4G>A rs762621671 0.00008
NM_001114753.3(ENG):c.121G>A (p.Glu41Lys) rs199675436 0.00007
NM_001114753.3(ENG):c.1712G>A (p.Arg571His) rs138799379 0.00007
NM_001114753.3(ENG):c.1762G>A (p.Val588Ile) rs201768056 0.00007
NM_001114753.3(ENG):c.690-17C>T rs199525659 0.00007
NM_001114753.3(ENG):c.1446C>T (p.Ser482=) rs143945873 0.00006
NM_001114753.3(ENG):c.1852+42C>T rs779974705 0.00006
NM_001114753.3(ENG):c.1252G>C (p.Ala418Pro) rs150293362 0.00005
NM_001114753.3(ENG):c.1273-4G>A rs373308042 0.00005
NM_001114753.3(ENG):c.1632C>T (p.Thr544=) rs117510900 0.00005
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys) rs764262721 0.00005
NM_001114753.3(ENG):c.218C>T (p.Thr73Met) rs200960408 0.00005
NM_001114753.3(ENG):c.654G>A (p.Ala218=) rs773156160 0.00005
NM_001114753.3(ENG):c.1134+92G>A rs1194091413 0.00004
NM_001114753.3(ENG):c.1312-13C>T rs770902350 0.00004
NM_001114753.3(ENG):c.1389C>T (p.Ala463=) rs200168633 0.00004
NM_001114753.3(ENG):c.1437G>A (p.Val479=) rs754600063 0.00004
NM_001114753.3(ENG):c.1682A>C (p.Asp561Ala) rs375965489 0.00004
NM_001114753.3(ENG):c.1686+18C>T rs767620198 0.00004
NM_001114753.3(ENG):c.1742-15G>A rs201678228 0.00004
NM_001114753.3(ENG):c.1851G>A (p.Thr617=) rs747344646 0.00004
NM_001114753.3(ENG):c.220-16C>T rs748668677 0.00004
NM_001114753.3(ENG):c.413T>C (p.Leu138Pro) rs546637270 0.00004
NM_001114753.3(ENG):c.596G>A (p.Arg199His) rs548424658 0.00004
NM_001114753.3(ENG):c.705G>A (p.Thr235=) rs755116051 0.00004
NM_001114753.3(ENG):c.747C>T (p.Ala249=) rs557060922 0.00004
NM_001114753.3(ENG):c.817-27_817-26del rs761699139 0.00004
NM_001114753.3(ENG):c.817-8A>G rs753576292 0.00004
NM_001114753.3(ENG):c.9C>T (p.Arg3=) rs752431673 0.00004
NM_001114753.3(ENG):c.1020G>A (p.Pro340=) rs773748110 0.00003
NM_001114753.3(ENG):c.1299A>G (p.Ser433=) rs762387524 0.00003
NM_001114753.3(ENG):c.1323C>T (p.His441=) rs751203937 0.00003
NM_001114753.3(ENG):c.1671C>T (p.Thr557=) rs369135742 0.00003
NM_001114753.3(ENG):c.1672G>A (p.Gly558Arg) rs373230507 0.00003
NM_001114753.3(ENG):c.242C>A (p.Thr81Asn) rs1413416433 0.00003
NM_001114753.3(ENG):c.405C>G (p.Thr135=) rs773521685 0.00003
NM_001114753.3(ENG):c.45C>G (p.Ala15=) rs768137759 0.00003
NM_001114753.3(ENG):c.524-13C>T rs756926952 0.00003
NM_001114753.3(ENG):c.524-14G>A rs371420421 0.00003
NM_001114753.3(ENG):c.589C>T (p.Arg197Trp) rs780987528 0.00003
NM_001114753.3(ENG):c.690-5C>T rs374628465 0.00003
NM_001114753.3(ENG):c.900G>A (p.Leu300=) rs140155568 0.00003
NM_001114753.3(ENG):c.999G>A (p.Arg333=) rs371174838 0.00003
NM_001114753.3(ENG):c.1154C>T (p.Thr385Met) rs199764615 0.00002
NM_001114753.3(ENG):c.1155G>A (p.Thr385=) rs770249062 0.00002
NM_001114753.3(ENG):c.149C>T (p.Ser50Leu) rs927607049 0.00002
NM_001114753.3(ENG):c.1529G>A (p.Arg510Gln) rs199629212 0.00002
NM_001114753.3(ENG):c.1572C>T (p.Pro524=) rs760682477 0.00002
NM_001114753.3(ENG):c.1710G>T (p.Met570Ile) rs757511675 0.00002
NM_001114753.3(ENG):c.1758C>T (p.Gly586=) rs150566847 0.00002
NM_001114753.3(ENG):c.1806C>T (p.Ile602=) rs373002544 0.00002
NM_001114753.3(ENG):c.1836C>T (p.Tyr612=) rs1449770420 0.00002
NM_001114753.3(ENG):c.393G>A (p.Pro131=) rs760121099 0.00002
NM_001114753.3(ENG):c.512G>A (p.Arg171Gln) rs756980265 0.00002
NM_001114753.3(ENG):c.609G>C (p.Leu203Phe) rs767850408 0.00002
NM_001114753.3(ENG):c.64A>G (p.Thr22Ala) rs764472279 0.00002
NM_001114753.3(ENG):c.695G>A (p.Arg232Gln) rs772467926 0.00002
NM_001114753.3(ENG):c.708G>A (p.Val236=) rs780260845 0.00002
NM_001114753.3(ENG):c.722G>A (p.Ser241Asn) rs1060501411 0.00002
NM_001114753.3(ENG):c.733G>A (p.Gly245Arg) rs762569294 0.00002
NM_001114753.3(ENG):c.741C>T (p.Leu247=) rs201457707 0.00002
NM_001114753.3(ENG):c.748G>A (p.Val250Ile) rs759102482 0.00002
NM_001114753.3(ENG):c.774C>T (p.Tyr258=) rs537154767 0.00002
NM_001114753.3(ENG):c.816+14A>G rs774964688 0.00002
NM_001114753.3(ENG):c.990C>T (p.Cys330=) rs369202854 0.00002
NM_001114753.3(ENG):c.1002G>A (p.Leu334=) rs1416672742 0.00001
NM_001114753.3(ENG):c.1008C>T (p.Thr336=) rs766675335 0.00001
NM_001114753.3(ENG):c.1014C>T (p.Pro338=) rs1057522787 0.00001
NM_001114753.3(ENG):c.1055C>T (p.Pro352Leu) rs1356571461 0.00001
NM_001114753.3(ENG):c.1056G>A (p.Pro352=) rs769530262 0.00001
NM_001114753.3(ENG):c.1071C>T (p.Ser357=) rs1305112426 0.00001
NM_001114753.3(ENG):c.1092C>T (p.Ala364=) rs375427398 0.00001
NM_001114753.3(ENG):c.111C>T (p.Pro37=) rs755626994 0.00001
NM_001114753.3(ENG):c.1195A>G (p.Arg399Gly) rs1315317848 0.00001
NM_001114753.3(ENG):c.1273-5C>T rs779103881 0.00001
NM_001114753.3(ENG):c.1275G>A (p.Ala425=) rs963830488 0.00001
NM_001114753.3(ENG):c.1293G>A (p.Ser431=) rs774036076 0.00001
NM_001114753.3(ENG):c.1295G>C (p.Ser432Thr) rs763594769 0.00001
NM_001114753.3(ENG):c.1312-10C>T rs1830401278 0.00001
NM_001114753.3(ENG):c.1327C>G (p.Leu443Val) rs375171647 0.00001
NM_001114753.3(ENG):c.1390T>A (p.Ser464Thr) rs748457491 0.00001
NM_001114753.3(ENG):c.1406C>T (p.Pro469Leu) rs367753784 0.00001
NM_001114753.3(ENG):c.1428+18C>A rs1399497751 0.00001
NM_001114753.3(ENG):c.1429-5T>C rs777525174 0.00001
NM_001114753.3(ENG):c.1429-9C>T rs370836025 0.00001
NM_001114753.3(ENG):c.1480C>G (p.His494Asp) rs775718026 0.00001
NM_001114753.3(ENG):c.1584G>A (p.Pro528=) rs189572386 0.00001
NM_001114753.3(ENG):c.1611C>T (p.Tyr537=) rs570296266 0.00001
NM_001114753.3(ENG):c.1650G>A (p.Thr550=) rs1425275422 0.00001
NM_001114753.3(ENG):c.1687-7C>T rs756527693 0.00001
NM_001114753.3(ENG):c.1702G>A (p.Val568Ile) rs781201877 0.00001
NM_001114753.3(ENG):c.1742-10C>T rs761244549 0.00001
NM_001114753.3(ENG):c.1771G>A (p.Ala591Thr) rs200080694 0.00001
NM_001114753.3(ENG):c.1852+11C>T rs1830300469 0.00001
NM_001114753.3(ENG):c.185T>A (p.Leu62His) rs1060501424 0.00001
NM_001114753.3(ENG):c.208G>A (p.Glu70Lys) rs1179814153 0.00001
NM_001114753.3(ENG):c.219+12dup rs1448024285 0.00001
NM_001114753.3(ENG):c.219+19G>T rs1348683648 0.00001
NM_001114753.3(ENG):c.344C>T (p.Pro115Leu) rs146987480 0.00001
NM_001114753.3(ENG):c.354G>A (p.Leu118=) rs772534014 0.00001
NM_001114753.3(ENG):c.361-5C>T rs766201542 0.00001
NM_001114753.3(ENG):c.470C>T (p.Thr157Ile) rs1388404555 0.00001
NM_001114753.3(ENG):c.48C>G (p.Ser16Arg) rs540893029 0.00001
NM_001114753.3(ENG):c.524-6C>T rs1203177428 0.00001
NM_001114753.3(ENG):c.539C>T (p.Ser180Phe) rs375025857 0.00001
NM_001114753.3(ENG):c.579G>A (p.Thr193=) rs769703434 0.00001
NM_001114753.3(ENG):c.582C>T (p.Leu194=) rs140663846 0.00001
NM_001114753.3(ENG):c.594G>A (p.Pro198=) rs568278048 0.00001
NM_001114753.3(ENG):c.613C>T (p.Arg205Trp) rs762209698 0.00001
NM_001114753.3(ENG):c.633C>T (p.Gly211=) rs928192105 0.00001
NM_001114753.3(ENG):c.636G>C (p.Val212=) rs759493966 0.00001
NM_001114753.3(ENG):c.653C>T (p.Ala218Val) rs1435676276 0.00001
NM_001114753.3(ENG):c.67+7G>A rs1455679426 0.00001
NM_001114753.3(ENG):c.68-18C>T rs372807542 0.00001
NM_001114753.3(ENG):c.68-9C>G rs200772068 0.00001
NM_001114753.3(ENG):c.684G>A (p.Ser228=) rs368752783 0.00001
NM_001114753.3(ENG):c.689+12G>A rs759600714 0.00001
NM_001114753.3(ENG):c.690-16G>C rs375559067 0.00001
NM_001114753.3(ENG):c.768C>T (p.Pro256=) rs780493782 0.00001
NM_001114753.3(ENG):c.786C>T (p.Leu262=) rs368800416 0.00001
NM_001114753.3(ENG):c.792C>T (p.Asp264=) rs763763510 0.00001
NM_001114753.3(ENG):c.817-5A>G rs765777426 0.00001
NM_001114753.3(ENG):c.831C>T (p.Tyr277=) rs121918400 0.00001
NM_001114753.3(ENG):c.863G>A (p.Arg288His) rs770328302 0.00001
NM_001114753.3(ENG):c.911G>A (p.Arg304Gln) rs753429934 0.00001
NM_001114753.3(ENG):c.975T>G (p.Leu325=) rs776872127 0.00001
NM_001114753.3(ENG):c.1017A>G (p.Ala339=) rs2131886064
NM_001114753.3(ENG):c.1022T>C (p.Ile341Thr)
NM_001114753.3(ENG):c.1023C>A (p.Ile341=) rs909339898
NM_001114753.3(ENG):c.1050T>C (p.Cys350=)
NM_001114753.3(ENG):c.1077C>A (p.Ile359=) rs1830549327
NM_001114753.3(ENG):c.1089T>C (p.Cys363=)
NM_001114753.3(ENG):c.1092C>G (p.Ala364=)
NM_001114753.3(ENG):c.1095C>G (p.Asp365Glu) rs142803546
NM_001114753.3(ENG):c.1096G>A (p.Asp366Asn) rs1800956
NM_001114753.3(ENG):c.10G>A (p.Gly4Ser)
NM_001114753.3(ENG):c.10G>C (p.Gly4Arg)
NM_001114753.3(ENG):c.1108C>G (p.Leu370Val)
NM_001114753.3(ENG):c.1110G>A (p.Leu370=) rs1588580725
NM_001114753.3(ENG):c.1114C>T (p.Leu372=)
NM_001114753.3(ENG):c.111C>G (p.Pro37=)
NM_001114753.3(ENG):c.1134+12C>T
NM_001114753.3(ENG):c.1134+16C>A
NM_001114753.3(ENG):c.1135-10del
NM_001114753.3(ENG):c.1135-15del
NM_001114753.3(ENG):c.1135-20G>A
NM_001114753.3(ENG):c.1135-4C>T
NM_001114753.3(ENG):c.1152C>T (p.Ile384=)
NM_001114753.3(ENG):c.1161G>C (p.Leu387=)
NM_001114753.3(ENG):c.118G>T (p.Gly40Cys) rs778319338
NM_001114753.3(ENG):c.1200T>C (p.Gly400=) rs1306446029
NM_001114753.3(ENG):c.1203C>T (p.Asp401=) rs2131879238
NM_001114753.3(ENG):c.1209T>C (p.Phe403=)
NM_001114753.3(ENG):c.1215G>A (p.Leu405=)
NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly) rs751787590
NM_001114753.3(ENG):c.1218C>T (p.Arg406=)
NM_001114753.3(ENG):c.1230C>T (p.Ser410=)
NM_001114753.3(ENG):c.1272+10G>A
NM_001114753.3(ENG):c.1272+13G>T
NM_001114753.3(ENG):c.1272+14C>G rs1211943511
NM_001114753.3(ENG):c.1272+16A>C rs1271187725
NM_001114753.3(ENG):c.1272+8C>A rs1273740782
NM_001114753.3(ENG):c.1273-10A>G rs2131878677
NM_001114753.3(ENG):c.1273-14C>G
NM_001114753.3(ENG):c.1273-14C>T
NM_001114753.3(ENG):c.1273-18C>T
NM_001114753.3(ENG):c.1273-19C>T
NM_001114753.3(ENG):c.1278G>A (p.Val426=)
NM_001114753.3(ENG):c.1278G>C (p.Val426=)
NM_001114753.3(ENG):c.1290G>A (p.Leu430=)
NM_001114753.3(ENG):c.1290G>T (p.Leu430=) rs377321205
NM_001114753.3(ENG):c.1302A>G (p.Ser434=) rs1588576596
NM_001114753.3(ENG):c.1311+13G>A
NM_001114753.3(ENG):c.1311+15C>T
NM_001114753.3(ENG):c.1311+18G>A
NM_001114753.3(ENG):c.1311+89C>T rs368202311
NM_001114753.3(ENG):c.1312-16T>G
NM_001114753.3(ENG):c.1312-16_1312-13del rs1276298912
NM_001114753.3(ENG):c.1312-19C>T
NM_001114753.3(ENG):c.1312-20T>C rs1448646670
NM_001114753.3(ENG):c.1312-4C>G rs2131877165
NM_001114753.3(ENG):c.1338C>T (p.Asp446=)
NM_001114753.3(ENG):c.1401C>T (p.Ile467=)
NM_001114753.3(ENG):c.1402G>A (p.Glu468Lys)
NM_001114753.3(ENG):c.1428+11T>C
NM_001114753.3(ENG):c.1428+20C>A
NM_001114753.3(ENG):c.1428+8G>A rs2131876799
NM_001114753.3(ENG):c.1429-16C>T
NM_001114753.3(ENG):c.1429-6A>G
NM_001114753.3(ENG):c.1429-8C>G rs376169815
NM_001114753.3(ENG):c.1429-8C>T
NM_001114753.3(ENG):c.1434A>T (p.Arg478Ser) rs778561832
NM_001114753.3(ENG):c.1440C>A (p.Ser480=) rs1588575160
NM_001114753.3(ENG):c.1485G>A (p.Leu495=) rs2131876068
NM_001114753.3(ENG):c.1497T>C (p.Pro499=)
NM_001114753.3(ENG):c.150G>A (p.Ser50=) rs377129516
NM_001114753.3(ENG):c.1512G>A (p.Val504=) rs2131875976
NM_001114753.3(ENG):c.1530G>A (p.Arg510=) rs1225393890
NM_001114753.3(ENG):c.1565C>T (p.Pro522Leu) rs929266862
NM_001114753.3(ENG):c.1573G>A (p.Glu525Lys)
NM_001114753.3(ENG):c.1612A>G (p.Thr538Ala)
NM_001114753.3(ENG):c.1620C>G (p.Pro540=) rs1163127969
NM_001114753.3(ENG):c.1655C>A (p.Ala552Asp)
NM_001114753.3(ENG):c.1660C>T (p.Arg554Cys)
NM_001114753.3(ENG):c.1661G>A (p.Arg554His)
NM_001114753.3(ENG):c.1674G>C (p.Gly558=) rs2131875527
NM_001114753.3(ENG):c.1686+15G>A
NM_001114753.3(ENG):c.1686+8G>A rs372670034
NM_001114753.3(ENG):c.1686+8G>C rs372670034
NM_001114753.3(ENG):c.1686+9G>C rs754153231
NM_001114753.3(ENG):c.1687-15C>T
NM_001114753.3(ENG):c.1687-19CT[3]
NM_001114753.3(ENG):c.1695T>G (p.His565Gln)
NM_001114753.3(ENG):c.1698G>A (p.Arg566=) rs1554809103
NM_001114753.3(ENG):c.1704C>T (p.Val568=) rs1830344643
NM_001114753.3(ENG):c.171C>T (p.Ala57=)
NM_001114753.3(ENG):c.1720A>G (p.Ile574Val)
NM_001114753.3(ENG):c.1734C>T (p.Asp578=)
NM_001114753.3(ENG):c.1741+10C>T rs1554809082
NM_001114753.3(ENG):c.1741+79G>A rs551082475
NM_001114753.3(ENG):c.1741+8C>A
NM_001114753.3(ENG):c.1742-19T>C
NM_001114753.3(ENG):c.1742-8C>T rs1296395453
NM_001114753.3(ENG):c.1742-9C>T rs1362579633
NM_001114753.3(ENG):c.1770C>T (p.Pro590=) rs370943570
NM_001114753.3(ENG):c.1773C>T (p.Ala591=)
NM_001114753.3(ENG):c.1779G>A (p.Leu593=)
NM_001114753.3(ENG):c.179C>T (p.Ala60Val) rs146100407
NM_001114753.3(ENG):c.179_180delinsAA (p.Ala60Glu) rs1060504230
NM_001114753.3(ENG):c.1815G>A (p.Leu605=) rs2131871479
NM_001114753.3(ENG):c.1844C>G (p.Ser615Trp) rs148002300
NM_001114753.3(ENG):c.1845G>C (p.Ser615=) rs759950184
NM_001114753.3(ENG):c.1845G>T (p.Ser615=) rs759950184
NM_001114753.3(ENG):c.1852+23G>A
NM_001114753.3(ENG):c.1852+25G>A
NM_001114753.3(ENG):c.189A>G (p.Glu63=)
NM_001114753.3(ENG):c.192C>T (p.Val64=)
NM_001114753.3(ENG):c.198C>T (p.Val66=)
NM_001114753.3(ENG):c.219+12A>G
NM_001114753.3(ENG):c.219+13T>A
NM_001114753.3(ENG):c.219+20G>T
NM_001114753.3(ENG):c.220-11G>C
NM_001114753.3(ENG):c.220-13_220-12del rs778594969
NM_001114753.3(ENG):c.220-15_220-13del rs747642549
NM_001114753.3(ENG):c.220-6C>A rs756342212
NM_001114753.3(ENG):c.220-6C>T rs756342212
NM_001114753.3(ENG):c.232C>T (p.Leu78=) rs1060504229
NM_001114753.3(ENG):c.238C>T (p.Leu80=)
NM_001114753.3(ENG):c.255C>T (p.Ser85=) rs2131895211
NM_001114753.3(ENG):c.27T>C (p.Ala9=) rs2131936584
NM_001114753.3(ENG):c.283G>T (p.Val95Leu)
NM_001114753.3(ENG):c.285G>A (p.Val95=) rs1644523483
NM_001114753.3(ENG):c.297C>T (p.Leu99=) rs2131895105
NM_001114753.3(ENG):c.315C>T (p.Val105=) rs1489927188
NM_001114753.3(ENG):c.318C>T (p.Phe106=) rs1295204585
NM_001114753.3(ENG):c.327C>G (p.Leu109=)
NM_001114753.3(ENG):c.331G>A (p.Ala111Thr)
NM_001114753.3(ENG):c.348G>A (p.Leu116=) rs1205469132
NM_001114753.3(ENG):c.360+12C>G rs1830711464
NM_001114753.3(ENG):c.370C>G (p.Leu124Val)
NM_001114753.3(ENG):c.387_388delinsAT (p.Pro130Ser)
NM_001114753.3(ENG):c.389C>T (p.Pro130Leu)
NM_001114753.3(ENG):c.390C>T (p.Pro130=) rs2131890682
NM_001114753.3(ENG):c.392C>A (p.Pro131Gln) rs139398993
NM_001114753.3(ENG):c.400A>G (p.Asn134Asp)
NM_001114753.3(ENG):c.412C>T (p.Leu138=)
NM_001114753.3(ENG):c.417A>C (p.Pro139=) rs748286907
NM_001114753.3(ENG):c.417A>G (p.Pro139=)
NM_001114753.3(ENG):c.441T>A (p.Leu147=)
NM_001114753.3(ENG):c.441T>C (p.Leu147=)
NM_001114753.3(ENG):c.456G>A (p.Glu152=) rs1588583553
NM_001114753.3(ENG):c.457A>T (p.Arg153Trp) rs1323149703
NM_001114753.3(ENG):c.45C>T (p.Ala15=)
NM_001114753.3(ENG):c.501C>T (p.Ser167=)
NM_001114753.3(ENG):c.513A>C (p.Arg171=)
NM_001114753.3(ENG):c.513A>G (p.Arg171=) rs751043726
NM_001114753.3(ENG):c.523+16A>C
NM_001114753.3(ENG):c.523+18C>T
NM_001114753.3(ENG):c.524-10G>C
NM_001114753.3(ENG):c.524-11T>C
NM_001114753.3(ENG):c.524-14G>C
NM_001114753.3(ENG):c.561C>A (p.Ser187Arg)
NM_001114753.3(ENG):c.568A>G (p.Met190Val)
NM_001114753.3(ENG):c.574C>G (p.Arg192Gly) rs537215880
NM_001114753.3(ENG):c.574C>T (p.Arg192Cys)
NM_001114753.3(ENG):c.576C>G (p.Arg192=)
NM_001114753.3(ENG):c.578C>T (p.Thr193Met) rs775442178
NM_001114753.3(ENG):c.583G>C (p.Glu195Gln) rs1255912441
NM_001114753.3(ENG):c.591G>A (p.Arg197=)
NM_001114753.3(ENG):c.606C>T (p.Ala202=) rs2131889233
NM_001114753.3(ENG):c.613C>A (p.Arg205=)
NM_001114753.3(ENG):c.614G>A (p.Arg205Gln) rs751778614
NM_001114753.3(ENG):c.615G>T (p.Arg205=) rs2131889212
NM_001114753.3(ENG):c.627G>A (p.Leu209=) rs763087751
NM_001114753.3(ENG):c.636G>A (p.Val212=)
NM_001114753.3(ENG):c.638C>A (p.Ala213Asp)
NM_001114753.3(ENG):c.639C>T (p.Ala213=)
NM_001114753.3(ENG):c.651G>A (p.Glu217=)
NM_001114753.3(ENG):c.654G>C (p.Ala218=) rs773156160
NM_001114753.3(ENG):c.660C>T (p.Ile220=)
NM_001114753.3(ENG):c.663G>A (p.Leu221=) rs747788064
NM_001114753.3(ENG):c.665G>A (p.Arg222Lys)
NM_001114753.3(ENG):c.67+20G>T
NM_001114753.3(ENG):c.672G>A (p.Leu224=) rs746358974
NM_001114753.3(ENG):c.674C>A (p.Pro225Gln)
NM_001114753.3(ENG):c.674C>G (p.Pro225Arg)
NM_001114753.3(ENG):c.689+11C>T
NM_001114753.3(ENG):c.689+12G>C rs759600714
NM_001114753.3(ENG):c.689+14C>T
NM_001114753.3(ENG):c.689+15C>A
NM_001114753.3(ENG):c.689+15C>T rs766360447
NM_001114753.3(ENG):c.689+16C>T
NM_001114753.3(ENG):c.689+20C>A
NM_001114753.3(ENG):c.689+21_689+22del
NM_001114753.3(ENG):c.690-16G>A
NM_001114753.3(ENG):c.690-17C>A rs199525659
NM_001114753.3(ENG):c.690-18G>A
NM_001114753.3(ENG):c.690-18G>C rs376779134
NM_001114753.3(ENG):c.690-19C>T
NM_001114753.3(ENG):c.690-19del rs557108998
NM_001114753.3(ENG):c.705G>C (p.Thr235=) rs755116051
NM_001114753.3(ENG):c.718C>T (p.Leu240=)
NM_001114753.3(ENG):c.720G>A (p.Leu240=)
NM_001114753.3(ENG):c.729A>C (p.Ala243=) rs1242657224
NM_001114753.3(ENG):c.747C>G (p.Ala249=)
NM_001114753.3(ENG):c.753C>T (p.Leu251=) rs1830581337
NM_001114753.3(ENG):c.777G>T (p.Val259=) rs2131887746
NM_001114753.3(ENG):c.789C>T (p.Ile263=)
NM_001114753.3(ENG):c.79A>G (p.Thr27Ala)
NM_001114753.3(ENG):c.809A>G (p.Gln270Arg)
NM_001114753.3(ENG):c.816+11C>T
NM_001114753.3(ENG):c.816+13C>T
NM_001114753.3(ENG):c.816+8G>A
NM_001114753.3(ENG):c.816+9T>A rs1830577813
NM_001114753.3(ENG):c.819C>T (p.Thr273=) rs2131887210
NM_001114753.3(ENG):c.822T>C (p.Thr274=) rs2131887195
NM_001114753.3(ENG):c.825A>G (p.Gly275=)
NM_001114753.3(ENG):c.862C>T (p.Arg288Cys)
NM_001114753.3(ENG):c.867C>T (p.Gly289=) rs2131887082
NM_001114753.3(ENG):c.870C>T (p.Phe290=) rs1830570141
NM_001114753.3(ENG):c.910C>G (p.Arg304Gly) rs754842280
NM_001114753.3(ENG):c.933G>A (p.Val311=)
NM_001114753.3(ENG):c.942C>T (p.Phe314=) rs767171893
NM_001114753.3(ENG):c.954G>T (p.Pro318=) rs149590262
NM_001114753.3(ENG):c.965T>C (p.Ile322Thr)
NM_001114753.3(ENG):c.96T>C (p.Leu32=)
NM_001114753.3(ENG):c.974T>A (p.Leu325His)
NM_001114753.3(ENG):c.991+7A>G
NM_001114753.3(ENG):c.991+8C>A rs2131886790
NM_001114753.3(ENG):c.992-4A>G rs1316539915
NM_001114753.3(ENG):c.992-5C>A rs765715581
NM_001114753.3(ENG):c.992-6C>T rs756890201
NM_001114753.3(ENG):c.992-8C>T
NM_001114753.3(ENG):c.996T>C (p.Gly332=) rs759964114
NM_001114753.3(ENG):c.998G>A (p.Arg333Lys)

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