ClinVar Miner

List of variants in gene combination ENG, LOC102723566 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 350
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HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.1374A>G (p.Pro458=) rs34828244 0.00879
NM_001114753.3(ENG):c.1452C>T (p.Ser484=) rs115450389 0.00311
NM_001114753.3(ENG):c.1510G>A (p.Val504Met) rs116330805 0.00311
NM_001114753.3(ENG):c.1419C>T (p.Ser473=) rs561818608 0.00087
NM_001114753.3(ENG):c.1407G>A (p.Pro469=) rs41302657 0.00048
NM_001114753.3(ENG):c.1455G>A (p.Glu485=) rs150456852 0.00046
NM_001114753.3(ENG):c.1233C>T (p.Ser411=) rs137870512 0.00043
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.1258A>G (p.Met420Val) rs143724056 0.00029
NM_001114753.3(ENG):c.1533G>A (p.Ala511=) rs140760635 0.00027
NM_001114753.3(ENG):c.1312-12G>A rs201684408 0.00026
NM_001114753.3(ENG):c.1742-13C>T rs373611252 0.00021
NM_001114753.3(ENG):c.1686+6T>G rs369766351 0.00019
NM_001114753.3(ENG):c.1637C>T (p.Thr546Ile) rs372453075 0.00013
NM_001114753.3(ENG):c.1135-8C>T rs79426098 0.00011
NM_001114753.3(ENG):c.1135-7G>A rs201359896 0.00008
NM_001114753.3(ENG):c.1259T>C (p.Met420Thr) rs766272638 0.00008
NM_001114753.3(ENG):c.1712G>A (p.Arg571His) rs138799379 0.00007
NM_001114753.3(ENG):c.1446C>T (p.Ser482=) rs143945873 0.00006
NM_001114753.3(ENG):c.1695T>C (p.His565=) rs750637713 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.1316A>C (p.Lys439Thr) rs368533266 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.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.1686+19G>A rs201163068 0.00004
NM_001114753.3(ENG):c.1742-15G>A rs201678228 0.00004
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.1135C>G (p.His379Asp) rs771599199 0.00002
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.1217G>A (p.Arg406His) rs149065210 0.00002
NM_001114753.3(ENG):c.1311+6A>G rs1060501416 0.00002
NM_001114753.3(ENG):c.1529G>A (p.Arg510Gln) rs199629212 0.00002
NM_001114753.3(ENG):c.1538A>G (p.Lys513Arg) rs765564489 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.1195A>G (p.Arg399Gly) rs1315317848 0.00001
NM_001114753.3(ENG):c.1273-5C>T rs779103881 0.00001
NM_001114753.3(ENG):c.1274C>T (p.Ala425Val) rs369997021 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.1306C>T (p.Gln436Ter) rs1554809450 0.00001
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp) rs1434169817 0.00001
NM_001114753.3(ENG):c.1312-10C>T rs1830401278 0.00001
NM_001114753.3(ENG):c.1313A>G (p.Lys438Arg) rs755962839 0.00001
NM_001114753.3(ENG):c.1314A>G (p.Lys438=) rs750412250 0.00001
NM_001114753.3(ENG):c.1327C>G (p.Leu443Val) rs375171647 0.00001
NM_001114753.3(ENG):c.1335G>A (p.Met445Ile) rs777564305 0.00001
NM_001114753.3(ENG):c.1390T>A (p.Ser464Thr) rs748457491 0.00001
NM_001114753.3(ENG):c.1402G>C (p.Glu468Gln) rs370554511 0.00001
NM_001114753.3(ENG):c.1406C>T (p.Pro469Leu) rs367753784 0.00001
NM_001114753.3(ENG):c.1408G>C (p.Gly470Arg) rs756263325 0.00001
NM_001114753.3(ENG):c.1428+18C>A rs1399497751 0.00001
NM_001114753.3(ENG):c.1428+5C>G rs1564452925 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.1528C>T (p.Arg510Trp) rs201517535 0.00001
NM_001114753.3(ENG):c.1584G>A (p.Pro528=) rs189572386 0.00001
NM_001114753.3(ENG):c.1585C>T (p.Arg529Cys) rs745316066 0.00001
NM_001114753.3(ENG):c.1592G>A (p.Ser531Asn) rs780884220 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.1696A>G (p.Arg566Gly) rs1428529909 0.00001
NM_001114753.3(ENG):c.1702G>A (p.Val568Ile) rs781201877 0.00001
NM_001114753.3(ENG):c.1730C>G (p.Pro577Arg) rs759341808 0.00001
NC_000009.12:g.(?_127815012)_(127854773_?)del
NC_000009.12:g.(?_127815662)_(127820057_?)del
NC_000009.12:g.(?_127819602)_(127820057_?)del
NC_000009.12:g.(?_127819612)_(127820047_?)del
NC_000009.12:g.(?_127819616)_(127820043_?)del
NC_000009.12:g.(?_127819622)_(127820037_?)del
NM_000118.3(ENG):c.1687delG rs1564452075
NM_000118.3(ENG):c.1689_1699del (p.Glu563Aspfs) rs1830345043
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.1135C>A (p.His379Asn) rs771599199
NM_001114753.3(ENG):c.1139del (p.His379_Leu380insTer) rs2131879372
NM_001114753.3(ENG):c.1145G>A (p.Cys382Tyr) rs1131691931
NM_001114753.3(ENG):c.1151T>C (p.Ile384Thr) rs2131879350
NM_001114753.3(ENG):c.1152C>T (p.Ile384=)
NM_001114753.3(ENG):c.1153A>C (p.Thr385Pro) rs1830434864
NM_001114753.3(ENG):c.1153A>G (p.Thr385Ala) rs1830434864
NM_001114753.3(ENG):c.1160T>C (p.Leu387Pro) rs1564453623
NM_001114753.3(ENG):c.1161G>C (p.Leu387=)
NM_001114753.3(ENG):c.1166_1168del (p.Phe389del) rs1588577016
NM_001114753.3(ENG):c.1169G>A (p.Trp390Ter) rs1564453619
NM_001114753.3(ENG):c.1170G>A (p.Trp390Ter)
NM_001114753.3(ENG):c.1171G>C (p.Asp391His) rs1830434474
NM_001114753.3(ENG):c.1172A>G (p.Asp391Gly) rs2131879297
NM_001114753.3(ENG):c.1175_1176del (p.Pro392fs)
NM_001114753.3(ENG):c.1176del (p.Ser393fs)
NM_001114753.3(ENG):c.1177A>G (p.Ser393Gly) rs781518626
NM_001114753.3(ENG):c.1180T>C (p.Cys394Arg)
NM_001114753.3(ENG):c.1181G>A (p.Cys394Tyr) rs1830434129
NM_001114753.3(ENG):c.1195_1196del (p.Arg399fs) rs1131691422
NM_001114753.3(ENG):c.1195del (p.Arg399fs) rs1131691444
NM_001114753.3(ENG):c.1197G>C (p.Arg399Ser) rs1418330913
NM_001114753.3(ENG):c.1199del (p.Gly400fs) rs1060501422
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.1208T>C (p.Phe403Ser) rs1830433526
NM_001114753.3(ENG):c.1209T>C (p.Phe403=)
NM_001114753.3(ENG):c.1209dup (p.Val404fs) rs2131879220
NM_001114753.3(ENG):c.1214T>C (p.Leu405Ser)
NM_001114753.3(ENG):c.1215G>A (p.Leu405=)
NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly) rs751787590
NM_001114753.3(ENG):c.1216C>T (p.Arg406Cys) rs751787590
NM_001114753.3(ENG):c.1218C>T (p.Arg406=)
NM_001114753.3(ENG):c.1220G>A (p.Ser407Asn) rs1554809516
NM_001114753.3(ENG):c.1223C>T (p.Ala408Val)
NM_001114753.3(ENG):c.1230C>T (p.Ser410=)
NM_001114753.3(ENG):c.1234T>G (p.Cys412Gly) rs1830432884
NM_001114753.3(ENG):c.1235G>A (p.Cys412Tyr) rs1554809513
NM_001114753.3(ENG):c.1236T>A (p.Cys412Ter) rs1830432773
NM_001114753.3(ENG):c.1236_1687-77del
NM_001114753.3(ENG):c.1238del (p.Gly413fs) rs1830432717
NM_001114753.3(ENG):c.1241T>A (p.Met414Lys) rs1830432509
NM_001114753.3(ENG):c.1241T>C (p.Met414Thr) rs1830432509
NM_001114753.3(ENG):c.1241T>G (p.Met414Arg) rs1830432509
NM_001114753.3(ENG):c.1242G>C (p.Met414Ile)
NM_001114753.3(ENG):c.1247dup (p.Ser417fs) rs1588576923
NM_001114753.3(ENG):c.1256G>C (p.Ser419Thr)
NM_001114753.3(ENG):c.1263C>G (p.Ile421Met) rs760446518
NM_001114753.3(ENG):c.1268del (p.Asn423fs) rs1564453538
NM_001114753.3(ENG):c.1270dup (p.Glu424fs)
NM_001114753.3(ENG):c.1271A>T (p.Glu424Val)
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+20del
NM_001114753.3(ENG):c.1272+2dup
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.1273-15_1273-8dup rs1588576650
NM_001114753.3(ENG):c.1273-18C>T
NM_001114753.3(ENG):c.1273-19C>T
NM_001114753.3(ENG):c.1273-21_1273-20delinsAT
NM_001114753.3(ENG):c.1273-2A>G rs373842615
NM_001114753.3(ENG):c.1273-4_1273-3delinsAA rs1830425770
NM_001114753.3(ENG):c.1273G>A (p.Ala425Thr)
NM_001114753.3(ENG):c.1274C>A (p.Ala425Glu) rs369997021
NM_001114753.3(ENG):c.1276G>A (p.Val426Met) rs1830425455
NM_001114753.3(ENG):c.1276_1279delinsATAAA (p.Val426fs) rs1830425406
NM_001114753.3(ENG):c.1278G>A (p.Val426=)
NM_001114753.3(ENG):c.1278G>C (p.Val426=)
NM_001114753.3(ENG):c.1286dup (p.Leu430fs) rs1554809455
NM_001114753.3(ENG):c.1290G>A (p.Leu430=)
NM_001114753.3(ENG):c.1290G>T (p.Leu430=) rs377321205
NM_001114753.3(ENG):c.1292C>A (p.Ser431Ter) rs761353511
NM_001114753.3(ENG):c.1292C>T (p.Ser431Leu) rs761353511
NM_001114753.3(ENG):c.1295G>A (p.Ser432Asn) rs763594769
NM_001114753.3(ENG):c.1300T>A (p.Ser434Thr)
NM_001114753.3(ENG):c.1301C>G (p.Ser434Ter)
NM_001114753.3(ENG):c.1302A>G (p.Ser434=) rs1588576596
NM_001114753.3(ENG):c.1309C>G (p.Arg437Gly)
NM_001114753.3(ENG):c.1310G>A (p.Arg437Gln)
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+1G>A
NM_001114753.3(ENG):c.1311+1dup rs1554809446
NM_001114753.3(ENG):c.1311+2T>A
NM_001114753.3(ENG):c.1311+2T>C
NM_001114753.3(ENG):c.1311+5G>A rs1830423993
NM_001114753.3(ENG):c.1311+89C>T rs368202311
NM_001114753.3(ENG):c.1311G>A (p.Arg437=) rs1554809448
NM_001114753.3(ENG):c.1311G>C (p.Arg437=) rs1554809448
NM_001114753.3(ENG):c.1311G>T (p.Arg437=) rs1554809448
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.1312-1G>C rs2131877148
NM_001114753.3(ENG):c.1312-20T>C rs1448646670
NM_001114753.3(ENG):c.1312-3C>G rs2131877153
NM_001114753.3(ENG):c.1312-4C>G rs2131877165
NM_001114753.3(ENG):c.1312A>T (p.Lys438Ter) rs863223536
NM_001114753.3(ENG):c.1317G>C (p.Lys439Asn)
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_001114753.3(ENG):c.1326C>A (p.Cys442Ter) rs1554809361
NM_001114753.3(ENG):c.1327del (p.Leu443fs) rs1060501413
NM_001114753.3(ENG):c.1333dup (p.Met445fs) rs1830399696
NM_001114753.3(ENG):c.1336G>A (p.Asp446Asn) rs1830399300
NM_001114753.3(ENG):c.1336G>T (p.Asp446Tyr)
NM_001114753.3(ENG):c.1338C>T (p.Asp446=)
NM_001114753.3(ENG):c.1346_1347del (p.Ser449fs) rs1564453019
NM_001114753.3(ENG):c.1347_1350del (p.Phe450fs) rs2131877041
NM_001114753.3(ENG):c.1350C>T (p.Phe450=)
NM_001114753.3(ENG):c.1351C>T (p.Gln451Ter) rs1554809355
NM_001114753.3(ENG):c.1357G>C (p.Gly453Arg) rs1830398628
NM_001114753.3(ENG):c.1358del (p.Gly453fs)
NM_001114753.3(ENG):c.1361T>C (p.Leu454Pro)
NM_001114753.3(ENG):c.1363_1364insC (p.Tyr455fs) rs1064793889
NM_001114753.3(ENG):c.1365C>A (p.Tyr455Ter) rs774943840
NM_001114753.3(ENG):c.1365C>T (p.Tyr455=)
NM_001114753.3(ENG):c.1369dup (p.Ser457fs)
NM_001114753.3(ENG):c.1381_1384del (p.Leu461fs)
NM_001114753.3(ENG):c.1385A>G (p.Gln462Arg) rs2131876977
NM_001114753.3(ENG):c.1393A>G (p.Asn465Asp) rs1830397241
NM_001114753.3(ENG):c.1394dup (p.Asn465fs) rs1554809348
NM_001114753.3(ENG):c.1401C>T (p.Ile467=)
NM_001114753.3(ENG):c.1402G>A (p.Glu468Lys)
NM_001114753.3(ENG):c.1402G>T (p.Glu468Ter)
NM_001114753.3(ENG):c.1410del (p.Gln471fs) rs1085307433
NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter) rs1830395639
NM_001114753.3(ENG):c.1414C>G (p.Gln472Glu)
NM_001114753.3(ENG):c.1414C>T (p.Gln472Ter)
NM_001114753.3(ENG):c.1415_1417delinsGT (p.Gln472fs) rs1554809331
NM_001114753.3(ENG):c.1415_1424del (p.Gln472fs) rs1060501412
NM_001114753.3(ENG):c.1419C>G (p.Ser473Arg) rs561818608
NM_001114753.3(ENG):c.1426C>T (p.Gln476Ter) rs965119099
NM_001114753.3(ENG):c.1427A>G (p.Gln476Arg) rs1830394955
NM_001114753.3(ENG):c.1427A>T (p.Gln476Leu) rs1830394955
NM_001114753.3(ENG):c.1428+11T>C
NM_001114753.3(ENG):c.1428+1G>A rs863223542
NM_001114753.3(ENG):c.1428+20C>A
NM_001114753.3(ENG):c.1428+2T>A rs863223543
NM_001114753.3(ENG):c.1428+2T>C rs863223543
NM_001114753.3(ENG):c.1428+5C>A rs1564452925
NM_001114753.3(ENG):c.1428+8G>A rs2131876799
NM_001114753.3(ENG):c.1429-16C>T
NM_001114753.3(ENG):c.1429-1G>C rs2131876244
NM_001114753.3(ENG):c.1429-23_1429-1del
NM_001114753.3(ENG):c.1429-2A>G rs1564452759
NM_001114753.3(ENG):c.1429-3C>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.1429-9_1429-6dup rs762494923
NM_001114753.3(ENG):c.1434A>T (p.Arg478Ser) rs778561832
NM_001114753.3(ENG):c.1434_1435del (p.Arg478fs) rs1564452747
NM_001114753.3(ENG):c.1440C>A (p.Ser480=) rs1588575160
NM_001114753.3(ENG):c.1441C>T (p.Pro481Ser) rs1554809289
NM_001114753.3(ENG):c.1450_1451del (p.Ser484fs) rs1830385865
NM_001114753.3(ENG):c.1453G>A (p.Glu485Lys)
NM_001114753.3(ENG):c.1453G>T (p.Glu485Ter) rs997074986
NM_001114753.3(ENG):c.1456T>C (p.Phe486Leu) rs1830385483
NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter) rs1057521648
NM_001114753.3(ENG):c.1469T>C (p.Leu490Ser) rs763475207
NM_001114753.3(ENG):c.1470dup (p.Asp491fs) rs1830385077
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs) rs1830384910
NM_001114753.3(ENG):c.1478G>T (p.Cys493Phe)
NM_001114753.3(ENG):c.1485G>A (p.Leu495=) rs2131876068
NM_001114753.3(ENG):c.1486G>A (p.Asp496Asn) rs2131876065
NM_001114753.3(ENG):c.1490T>A (p.Leu497Ter) rs1830384447
NM_001114753.3(ENG):c.1497T>C (p.Pro499=)
NM_001114753.3(ENG):c.1502G>A (p.Gly501Glu) rs2131876010
NM_001114753.3(ENG):c.1509C>T (p.Thr503=)
NM_001114753.3(ENG):c.1509del (p.Val504fs) rs1564452685
NM_001114753.3(ENG):c.1512G>A (p.Val504=) rs2131875976
NM_001114753.3(ENG):c.1515del (p.Glu505fs)
NM_001114753.3(ENG):c.1515dup (p.Leu506fs) rs1564452667
NM_001114753.3(ENG):c.1517T>A (p.Leu506His) rs778594104
NM_001114753.3(ENG):c.1530G>A (p.Arg510=) rs1225393890
NM_001114753.3(ENG):c.1531del (p.Ala511fs) rs2131875912
NM_001114753.3(ENG):c.1532C>A (p.Ala511Glu)
NM_001114753.3(ENG):c.1532C>T (p.Ala511Val)
NM_001114753.3(ENG):c.1534G>A (p.Ala512Thr) rs2131875889
NM_001114753.3(ENG):c.1541del (p.Gly514fs) rs1554809268
NM_001114753.3(ENG):c.1550_1551del (p.Val517fs) rs863223541
NM_001114753.3(ENG):c.1553_1554del (p.Ser518fs) rs2131875838
NM_001114753.3(ENG):c.1554_1555del (p.Leu519fs) rs886041325
NM_001114753.3(ENG):c.1559T>C (p.Leu520Pro) rs2131875808
NM_001114753.3(ENG):c.1565C>T (p.Pro522Leu) rs929266862
NM_001114753.3(ENG):c.1572del (p.Glu525fs) rs2131875783
NM_001114753.3(ENG):c.1573G>A (p.Glu525Lys)
NM_001114753.3(ENG):c.1583C>G (p.Pro528Arg)
NM_001114753.3(ENG):c.1583dup (p.Arg529fs)
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_001114753.3(ENG):c.1600C>T (p.Leu534Phe)
NM_001114753.3(ENG):c.1603_1608del (p.His535_Phe536del)
NM_001114753.3(ENG):c.1612A>G (p.Thr538Ala)
NM_001114753.3(ENG):c.1618_1627del (p.Pro540fs)
NM_001114753.3(ENG):c.1620C>G (p.Pro540=) rs1163127969
NM_001114753.3(ENG):c.1626dup (p.Lys543fs) rs1830377451
NM_001114753.3(ENG):c.1645T>A (p.Cys549Ser) rs1830376644
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly) rs1830376644
NM_001114753.3(ENG):c.1646G>A (p.Cys549Tyr) rs1060501421
NM_001114753.3(ENG):c.1648A>C (p.Thr550Pro)
NM_001114753.3(ENG):c.1655C>A (p.Ala552Asp)
NM_001114753.3(ENG):c.1655C>T (p.Ala552Val)
NM_001114753.3(ENG):c.1657del (p.Leu553fs) rs1064794218
NM_001114753.3(ENG):c.1660C>T (p.Arg554Cys)
NM_001114753.3(ENG):c.1661G>A (p.Arg554His)
NM_001114753.3(ENG):c.1664C>A (p.Pro555His)
NM_001114753.3(ENG):c.1672_1684del (p.Gly558fs) rs1554809229
NM_001114753.3(ENG):c.1673G>A (p.Gly558Glu)
NM_001114753.3(ENG):c.1674G>C (p.Gly558=) rs2131875527
NM_001114753.3(ENG):c.1675del (p.Ser559fs) rs1830375325
NM_001114753.3(ENG):c.1675dup (p.Ser559fs) rs2131875524
NM_001114753.3(ENG):c.1678C>T (p.Gln560Ter) rs1830375228
NM_001114753.3(ENG):c.1682A>G (p.Asp561Gly) rs375965489
NM_001114753.3(ENG):c.1684C>T (p.Gln562Ter) rs1588574749
NM_001114753.3(ENG):c.1685A>C (p.Gln562Pro)
NM_001114753.3(ENG):c.1686+15G>A
NM_001114753.3(ENG):c.1686+1G>A rs1554809228
NM_001114753.3(ENG):c.1686+5G>A rs1830374353
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.1686G>C (p.Gln562His)
NM_001114753.3(ENG):c.1687-15C>T
NM_001114753.3(ENG):c.1687-19CT[2] rs566728279
NM_001114753.3(ENG):c.1687-19CT[3]
NM_001114753.3(ENG):c.1687-1G>A rs1554809106
NM_001114753.3(ENG):c.1687-1G>T rs1554809106
NM_001114753.3(ENG):c.1687-2A>G rs2131873933
NM_001114753.3(ENG):c.1687G>T (p.Glu563Ter) rs2131873923
NM_001114753.3(ENG):c.1695T>A (p.His565Gln) rs750637713
NM_001114753.3(ENG):c.1695T>G (p.His565Gln)
NM_001114753.3(ENG):c.1695del (p.His565fs) rs1830345505
NM_001114753.3(ENG):c.1698G>A (p.Arg566=) rs1554809103
NM_001114753.3(ENG):c.1698del (p.Thr567fs) rs1830345215
NM_001114753.3(ENG):c.1699A>G (p.Thr567Ala) rs1554809101
NM_001114753.3(ENG):c.1704C>T (p.Val568=) rs1830344643
NM_001114753.3(ENG):c.1709T>C (p.Met570Thr)
NM_001114753.3(ENG):c.1711C>A (p.Arg571Ser)
NM_001114753.3(ENG):c.1711C>G (p.Arg571Gly)
NM_001114753.3(ENG):c.1715T>A (p.Leu572Ter) rs863223539
NM_001114753.3(ENG):c.1720A>G (p.Ile574Val)
NM_001114753.3(ENG):c.1721TCA[1] (p.Ile575del) rs777038953
NM_001114753.3(ENG):c.1724T>C (p.Ile575Thr) rs1284713532
NM_001114753.3(ENG):c.1725C>G (p.Ile575Met) rs1333193699
NM_001114753.3(ENG):c.1726A>G (p.Ser576Gly) rs1564452024
NM_001114753.3(ENG):c.1728C>A (p.Ser576Arg) rs2131873779
NM_001114753.3(ENG):c.1733_1737del (p.Asp578fs)
NM_001114753.3(ENG):c.1734C>T (p.Asp578=)
NM_001114753.3(ENG):c.1738T>A (p.Ser580Thr)
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.1742-16C>T
NM_001114753.3(ENG):c.1742-19T>C

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