ClinVar Miner

List of variants studied for Hereditary hemorrhagic telangiectasia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1143
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HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.207G>A (p.Leu69=) rs11545664 0.14184
NM_001114753.3(ENG):c.1029C>T (p.Thr343=) rs3739817 0.06792
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405 0.04608
NM_001114753.3(ENG):c.1060C>T (p.Leu354=) rs36092484 0.03618
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947 0.01435
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_001114753.3(ENG):c.1374A>G (p.Pro458=) rs34828244 0.00879
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944 0.00355
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956 0.00353
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.1844C>T (p.Ser615Leu) rs148002300 0.00134
NM_001114753.3(ENG):c.732C>T (p.Pro244=) rs112262663 0.00124
NM_001114753.3(ENG):c.179C>A (p.Ala60Asp) rs146100407 0.00117
NM_001114753.3(ENG):c.180C>A (p.Ala60=) rs146188464 0.00117
NM_001114753.3(ENG):c.524-12G>A rs142841129 0.00116
NM_001114753.3(ENG):c.524-15C>T rs201463582 0.00114
NM_001114753.3(ENG):c.225G>A (p.Pro75=) rs116146060 0.00091
NM_001114753.3(ENG):c.1419C>T (p.Ser473=) rs561818608 0.00087
NM_001114753.3(ENG):c.-186G>A rs569618819 0.00080
NM_001114753.3(ENG):c.-54C>A rs2296702 0.00080
NM_001114753.3(ENG):c.617G>C (p.Gly206Ala) rs201393380 0.00080
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu) rs139398993 0.00077
NM_001114753.3(ENG):c.234G>A (p.Leu78=) rs115675061 0.00076
NM_001114753.3(ENG):c.816+12G>A rs115316938 0.00076
NM_001114753.3(ENG):c.-158C>T rs41470844 0.00075
NM_001114753.3(ENG):c.219+22C>T rs370257876 0.00073
NM_001114753.3(ENG):c.159C>T (p.Cys53=) rs148475405 0.00056
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.687C>T (p.Ala229=) rs376919650 0.00042
NM_001114753.3(ENG):c.-9G>A rs368423516 0.00040
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.-63C>T rs886063476 0.00028
NM_001114753.3(ENG):c.1533G>A (p.Ala511=) rs140760635 0.00027
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.1742-13C>T rs373611252 0.00021
NM_001114753.3(ENG):c.388C>T (p.Pro130Ser) rs199840979 0.00021
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.-188G>A rs961480381 0.00017
NM_001114753.3(ENG):c.291G>C (p.Leu97=) rs376641299 0.00016
NM_001114753.3(ENG):c.595C>T (p.Arg199Cys) rs752195587 0.00016
NM_001114753.3(ENG):c.321G>T (p.Leu107=) rs767907933 0.00015
NM_001114753.3(ENG):c.322C>T (p.His108Tyr) rs756897517 0.00015
NM_001114753.3(ENG):c.694C>T (p.Arg232Trp) rs200372420 0.00014
NM_001114753.3(ENG):c.1637C>T (p.Thr546Ile) rs372453075 0.00013
NM_001114753.3(ENG):c.306C>T (p.Asn102=) rs148098047 0.00012
NM_001114753.3(ENG):c.360+91C>T rs371908386 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_000020.3(ACVRL1):c.1249A>T (p.Ile417Phe) rs141653630 0.00009
NM_001114753.3(ENG):c.1040A>G (p.Lys347Arg) rs150829904 0.00009
NM_001114753.3(ENG):c.1133C>T (p.Ala378Val) rs143054595 0.00009
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.1135-7G>A rs201359896 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.634G>A (p.Val212Met) rs370652082 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.-76C>T rs943786398 0.00006
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.1852+42C>T rs779974705 0.00006
NM_001114753.3(ENG):c.360C>T (p.Tyr120=) rs121918402 0.00006
NM_001114753.3(ENG):c.-126G>A rs940261789 0.00005
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.218C>T (p.Thr73Met) rs200960408 0.00005
NM_001114753.3(ENG):c.654G>A (p.Ala218=) rs773156160 0.00005
NM_001114753.3(ENG):c.689+17G>A rs773103359 0.00005
NM_001114753.3(ENG):c.1019C>T (p.Pro340Leu) rs772135786 0.00004
NM_001114753.3(ENG):c.112G>A (p.Glu38Lys) rs747481834 0.00004
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.1686+19G>A rs201163068 0.00004
NM_001114753.3(ENG):c.1742-15G>A rs201678228 0.00004
NM_001114753.3(ENG):c.1761C>T (p.Leu587=) rs546872552 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.727G>A (p.Ala243Thr) rs761827492 0.00004
NM_001114753.3(ENG):c.742G>A (p.Asp248Asn) rs775160533 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.1067T>A (p.Met356Lys) rs138190783 0.00003
NM_001114753.3(ENG):c.1093G>A (p.Asp365Asn) rs548690138 0.00003
NM_001114753.3(ENG):c.1134G>A (p.Ala378=) rs1329127701 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.217A>G (p.Thr73Ala) rs1472137141 0.00003
NM_001114753.3(ENG):c.242C>A (p.Thr81Asn) rs1413416433 0.00003
NM_001114753.3(ENG):c.374T>C (p.Val125Ala) rs750115837 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.593C>T (p.Pro198Leu) rs777633247 0.00003
NM_001114753.3(ENG):c.627G>C (p.Leu209Phe) rs763087751 0.00003
NM_001114753.3(ENG):c.674C>T (p.Pro225Leu) rs781715616 0.00003
NM_001114753.3(ENG):c.690-5C>T rs374628465 0.00003
NM_001114753.3(ENG):c.69T>C (p.Ser23=) rs202048202 0.00003
NM_001114753.3(ENG):c.820A>G (p.Thr274Ala) rs1370586541 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.-59C>T rs1003149967 0.00002
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.149C>T (p.Ser50Leu) rs927607049 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.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.338G>A (p.Gly113Glu) rs1169024767 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.686C>A (p.Ala229Asp) rs971190119 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.805A>G (p.Met269Val) rs1323617205 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.-10C>T rs756994701 0.00001
NM_001114753.3(ENG):c.-91C>T rs1478547011 0.00001
NM_001114753.3(ENG):c.-99C>T rs1488678420 0.00001
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.108C>T (p.Gly36=) rs748898883 0.00001
NM_001114753.3(ENG):c.1092C>T (p.Ala364=) rs375427398 0.00001
NM_001114753.3(ENG):c.1097A>G (p.Asp366Gly) rs932659087 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.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.160G>A (p.Val54Met) rs923794879 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
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.1774G>A (p.Val592Met) rs756003321 0.00001
NM_001114753.3(ENG):c.1782C>T (p.Gly594=) rs1390519046 0.00001
NM_001114753.3(ENG):c.1850C>T (p.Thr617Met) rs201031046 0.00001
NM_001114753.3(ENG):c.1852+11C>T rs1830300469 0.00001
NM_001114753.3(ENG):c.1852C>T (p.Arg618Cys) rs1346184000 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.219+3G>A rs1419279746 0.00001
NM_001114753.3(ENG):c.278G>A (p.Arg93Gln) rs532649202 0.00001
NM_001114753.3(ENG):c.28G>A (p.Val10Ile) rs1829096799 0.00001
NM_001114753.3(ENG):c.310A>G (p.Ser104Gly) rs757343854 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.376A>G (p.Thr126Ala) rs1564456742 0.00001
NM_001114753.3(ENG):c.442G>C (p.Glu148Gln) rs770290260 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.524-2A>G rs1060501414 0.00001
NM_001114753.3(ENG):c.524-6C>T rs1203177428 0.00001
NM_001114753.3(ENG):c.534_536del (p.Leu179del) rs1285249384 0.00001
NM_001114753.3(ENG):c.539C>T (p.Ser180Phe) rs375025857 0.00001
NM_001114753.3(ENG):c.575G>A (p.Arg192His) rs1029569378 0.00001
NM_001114753.3(ENG):c.576C>T (p.Arg192=) rs1482783820 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.590G>A (p.Arg197Gln) rs770898485 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.675G>A (p.Pro225=) rs757608428 0.00001
NM_001114753.3(ENG):c.68-17G>A rs570198729 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.680A>G (p.His227Arg) rs377548944 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.691C>A (p.Pro231Thr) rs769339049 0.00001
NM_001114753.3(ENG):c.698C>T (p.Thr233Met) rs139767471 0.00001
NM_001114753.3(ENG):c.704C>T (p.Thr235Met) rs1361480439 0.00001
NM_001114753.3(ENG):c.754A>T (p.Ile252Phe) rs377377549 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.790G>A (p.Asp264Asn) rs1210433339 0.00001
NM_001114753.3(ENG):c.792C>T (p.Asp264=) rs763763510 0.00001
NM_001114753.3(ENG):c.816+6T>C rs759191907 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.839A>G (p.Lys280Arg) rs774709924 0.00001
NM_001114753.3(ENG):c.841A>G (p.Ile281Val) rs764640510 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.943G>A (p.Val315Met) rs763508329 0.00001
NM_001114753.3(ENG):c.975T>G (p.Leu325=) rs776872127 0.00001
NC_000009.11:g.(?_130577951)_(130581121_?)del
NC_000009.11:g.(?_130577951)_(130582326_?)del
NC_000009.11:g.(?_130577951)_(130700109_?)del
NC_000009.11:g.(?_130578090)_130581774del
NC_000009.11:g.(?_130578190)_(130592112_?)dup
NC_000009.11:g.(?_130578190)_(130616640_?)dup
NC_000009.11:g.(?_130578196)_(130581131_?)del
NC_000009.11:g.(?_130578196)_(130582336_?)del
NC_000009.11:g.(?_130578196)_(130592116_?)del
NC_000009.11:g.(?_130578196)_(130616761_?)dup
NC_000009.11:g.(?_130579418)_(130579492_?)del
NC_000009.11:g.(?_130586563)_(130587263_?)dup
NC_000009.11:g.(?_130586563)_(130588971_?)dup
NC_000009.11:g.(?_130586563)_(130605544_?)dup
NC_000009.11:g.(?_130586573)_(130592116_?)del
NC_000009.11:g.(?_130586635)_(130592750_?)del
NC_000009.11:g.(?_130587069)_(130592116_?)del
NC_000009.11:g.(?_130587069)_(130592116_?)dup
NC_000009.11:g.(?_130605351)_(130616761_?)del
NC_000009.12:g.(?_127815672)_(127854482_?)del
NC_000009.12:g.(?_127815907)_(127854365_?)del
NC_000009.12:g.(?_127815917)_(127854482_?)del
NC_000009.12:g.(?_127819602)_(127820057_?)del
NC_000009.12:g.(?_127819612)_(127820047_?)del
NC_000009.12:g.(?_127819612)_(127820047_?)dup
NC_000009.12:g.(?_127819612)_(127829837_?)del
NC_000009.12:g.(?_127819616)_(127820043_?)del
NC_000009.12:g.(?_127819622)_(127820037_?)del
NC_000009.12:g.(?_127824284)_(127824994_?)del
NC_000009.12:g.(?_127824284)_(127829847_?)del
NC_000009.12:g.(?_127824294)_(127824456_?)del
NC_000009.12:g.(?_127824294)_(127825367_?)dup
NC_000009.12:g.(?_127824294)_(127826683_?)del
NC_000009.12:g.(?_127825214)_(127826683_?)del
NC_000009.12:g.(?_127829681)_(127829833_?)del
NC_000009.12:g.(?_127843084)_(127843255_?)dup
NC_000009.12:g.(?_127854279)_(127854365_?)del
NC_000009.12:g.(?_127854279)_(127854482_?)del
NM_000020.3(ACVRL1):c.182G>A (p.Arg61Lys)
NM_000118.3(ENG):c.1687delG rs1564452075
NM_000118.3(ENG):c.1689_1699del (p.Glu563Aspfs) rs1830345043
NM_001114753.3(ENG):c.-111G>A
NM_001114753.3(ENG):c.-112C>T
NM_001114753.3(ENG):c.-115G>A
NM_001114753.3(ENG):c.-115G>C rs546892762
NM_001114753.3(ENG):c.-117C>T
NM_001114753.3(ENG):c.-123G>A
NM_001114753.3(ENG):c.-127C>T rs1060501408
NM_001114753.3(ENG):c.-12C>T
NM_001114753.3(ENG):c.-133C>T
NM_001114753.3(ENG):c.-141G>T
NM_001114753.3(ENG):c.-154C>T
NM_001114753.3(ENG):c.-21A>G
NM_001114753.3(ENG):c.-24C>T
NM_001114753.3(ENG):c.-2G>T
NM_001114753.3(ENG):c.-58G>A
NM_001114753.3(ENG):c.-59C>A
NM_001114753.3(ENG):c.-62G>A
NM_001114753.3(ENG):c.-69G>A
NM_001114753.3(ENG):c.-70del rs886063477
NM_001114753.3(ENG):c.-75G>A
NM_001114753.3(ENG):c.-77C>G rs1829099196
NM_001114753.3(ENG):c.-78G>A
NM_001114753.3(ENG):c.-79C>T rs1564466502
NM_001114753.3(ENG):c.-8_8del (p.Met1fs) rs1588604603
NM_001114753.3(ENG):c.-90G>C rs768083796
NM_001114753.3(ENG):c.-94C>G
NM_001114753.3(ENG):c.1003C>T (p.Gln335Ter)
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.1024C>T (p.Gln342Ter) rs774429348
NM_001114753.3(ENG):c.1026G>T (p.Gln342His) rs1830551216
NM_001114753.3(ENG):c.1027A>G (p.Thr343Ala) rs2131886016
NM_001114753.3(ENG):c.1029_1030delinsTC (p.Thr344Pro) rs2131885993
NM_001114753.3(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs) rs1064792934
NM_001114753.3(ENG):c.1036C>T (p.Pro346Ser) rs1554810062
NM_001114753.3(ENG):c.1042del (p.Asp348fs) rs2131885976
NM_001114753.3(ENG):c.1050T>C (p.Cys350=)
NM_001114753.3(ENG):c.1051_1052del (p.Ser351fs)
NM_001114753.3(ENG):c.1063C>T (p.Leu355Phe) rs1830549584
NM_001114753.3(ENG):c.1064T>C (p.Leu355Pro)
NM_001114753.3(ENG):c.1067T>C (p.Met356Thr) rs138190783
NM_001114753.3(ENG):c.1067T>G (p.Met356Arg) rs138190783
NM_001114753.3(ENG):c.1076T>A (p.Ile359Asn) rs2131885879
NM_001114753.3(ENG):c.1076T>C (p.Ile359Thr)
NM_001114753.3(ENG):c.1076dup (p.Gln360fs) rs2131885883
NM_001114753.3(ENG):c.1077C>A (p.Ile359=) rs1830549327
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs) rs863223540
NM_001114753.3(ENG):c.1084_1085del (p.Lys362fs) rs1554810051
NM_001114753.3(ENG):c.1087T>C (p.Cys363Arg) rs2131885848
NM_001114753.3(ENG):c.1088G>C (p.Cys363Ser) rs1588580782
NM_001114753.3(ENG):c.1089T>C (p.Cys363=)
NM_001114753.3(ENG):c.1092C>G (p.Ala364=)
NM_001114753.3(ENG):c.1093G>T (p.Asp365Tyr) rs548690138
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.1099G>C (p.Ala367Pro) rs372371435
NM_001114753.3(ENG):c.10G>A (p.Gly4Ser)
NM_001114753.3(ENG):c.10G>C (p.Gly4Arg)
NM_001114753.3(ENG):c.1100C>G (p.Ala367Gly)
NM_001114753.3(ENG):c.1106C>T (p.Thr369Ile) rs775352287
NM_001114753.3(ENG):c.1108C>G (p.Leu370Val)
NM_001114753.3(ENG):c.1109T>A (p.Leu370Gln) rs1830547696
NM_001114753.3(ENG):c.1110G>A (p.Leu370=) rs1588580725
NM_001114753.3(ENG):c.1110_1115dup (p.Leu372_Lys373insValLeu) rs1830547424
NM_001114753.3(ENG):c.1111dup (p.Val371fs) rs1554810041
NM_001114753.3(ENG):c.1114C>T (p.Leu372=)
NM_001114753.3(ENG):c.111C>G (p.Pro37=)
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser) rs2131885751
NM_001114753.3(ENG):c.1121_1124del (p.Lys374fs) rs1064793734
NM_001114753.3(ENG):c.1134+12C>T
NM_001114753.3(ENG):c.1134+16C>A
NM_001114753.3(ENG):c.1134+1G>A rs112809381
NM_001114753.3(ENG):c.1134G>C (p.Ala378=) rs1329127701
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.116G>A (p.Arg39Lys) rs892005175
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.118G>T (p.Gly40Cys) rs778319338
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.119_133del (p.Gly40_Thr45delinsAla)
NM_001114753.3(ENG):c.119del (p.Gly40fs) rs369596004
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.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.1273-18C>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.130T>C (p.Tyr44His) rs1554812271
NM_001114753.3(ENG):c.130T>G (p.Tyr44Asp) rs1554812271
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.132_133del (p.Thr45fs) rs2131918640
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.137C>T (p.Thr46Ile) rs1393437924
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.142C>T (p.Gln48Ter) rs1831082433
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.145G>T (p.Val49Phe) rs1252348200
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.146T>A (p.Val49Asp)
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.149C>A (p.Ser50Ter) rs927607049
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.150G>A (p.Ser50=) rs377129516
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.153G>C (p.Lys51Asn)
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.155G>A (p.Gly52Asp) rs1564462765
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.157T>C (p.Cys53Arg)
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.159C>A (p.Cys53Ter) rs148475405
NM_001114753.3(ENG):c.15G>A (p.Thr5=)
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.164del (p.Ala55fs) rs1831081460
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.166C>T (p.Gln56Ter) rs1588596879
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.16C>T (p.Leu6Phe)
NM_001114753.3(ENG):c.1704C>T (p.Val568=) rs1830344643
NM_001114753.3(ENG):c.1709T>C (p.Met570Thr)
NM_001114753.3(ENG):c.170C>G (p.Ala57Gly)
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.171C>T (p.Ala57=)
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
NM_001114753.3(ENG):c.1742-8C>T rs1296395453
NM_001114753.3(ENG):c.1742-9C>T rs1362579633
NM_001114753.3(ENG):c.1744T>G (p.Cys582Gly) rs1830304920
NM_001114753.3(ENG):c.1748C>G (p.Thr583Arg)
NM_001114753.3(ENG):c.1748C>T (p.Thr583Ile)
NM_001114753.3(ENG):c.1759C>T (p.Leu587Phe) rs747196026
NM_001114753.3(ENG):c.176A>G (p.Asn59Ser)
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.1780G>A (p.Gly594Ser) rs1060501409
NM_001114753.3(ENG):c.1786A>G (p.Thr596Ala) rs1830302512
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.1807G>A (p.Gly603Arg) rs1830302008
NM_001114753.3(ENG):c.1815G>A (p.Leu605=) rs2131871479
NM_001114753.3(ENG):c.1826C>T (p.Ala609Val)
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+1G>C rs2131871398
NM_001114753.3(ENG):c.1852+20A>G
NM_001114753.3(ENG):c.1852+21C>T
NM_001114753.3(ENG):c.1852+23G>A
NM_001114753.3(ENG):c.1852+25G>A
NM_001114753.3(ENG):c.1852+3G>A
NM_001114753.3(ENG):c.1852C>G (p.Arg618Gly)
NM_001114753.3(ENG):c.187G>T (p.Glu63Ter) rs1588596830
NM_001114753.3(ENG):c.189A>G (p.Glu63=)
NM_001114753.3(ENG):c.192C>T (p.Val64=)
NM_001114753.3(ENG):c.194A>G (p.His65Arg) rs1267116267
NM_001114753.3(ENG):c.198C>T (p.Val66=)
NM_001114753.3(ENG):c.1A>C (p.Met1Leu) rs1060501418
NM_001114753.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_001114753.3(ENG):c.200T>C (p.Leu67Pro) rs2131918396
NM_001114753.3(ENG):c.214C>T (p.Pro72Ser) rs1831079928
NM_001114753.3(ENG):c.218_219insTCCA (p.Gly74fs)
NM_001114753.3(ENG):c.219+12A>G
NM_001114753.3(ENG):c.219+13T>A
NM_001114753.3(ENG):c.219+1G>A rs1554812253
NM_001114753.3(ENG):c.219+20G>T
NM_001114753.3(ENG):c.219+2T>C rs2131918332
NM_001114753.3(ENG):c.219+2T>G
NM_001114753.3(ENG):c.219+4_219+7del
NM_001114753.3(ENG):c.219+5G>A rs1554812252
NM_001114753.3(ENG):c.219+5G>T rs1554812252
NM_001114753.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_001114753.3(ENG):c.219G>T (p.Thr73=) rs755348996
NM_001114753.3(ENG):c.220-11G>C
NM_001114753.3(ENG):c.220-12T>A
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.220-1G>A rs1554810936
NM_001114753.3(ENG):c.220-6C>A rs756342212
NM_001114753.3(ENG):c.220-6C>T rs756342212
NM_001114753.3(ENG):c.223C>A (p.Pro75Thr)
NM_001114753.3(ENG):c.223C>T (p.Pro75Ser) rs376186413
NM_001114753.3(ENG):c.224del (p.Pro75fs) rs1554810932
NM_001114753.3(ENG):c.229C>T (p.Gln77Ter) rs1588585997
NM_001114753.3(ENG):c.229del (p.Gln77fs) rs1554810928
NM_001114753.3(ENG):c.232C>T (p.Leu78=) rs1060504229
NM_001114753.3(ENG):c.233dup (p.Glu79fs)
NM_001114753.3(ENG):c.235G>T (p.Glu79Ter) rs763992842
NM_001114753.3(ENG):c.238C>T (p.Leu80=)
NM_001114753.3(ENG):c.239del (p.Leu80fs)
NM_001114753.3(ENG):c.23T>C (p.Leu8Pro) rs1564466414
NM_001114753.3(ENG):c.244del (p.Leu82fs) rs1554810921
NM_001114753.3(ENG):c.247C>T (p.Gln83Ter) rs863223532
NM_001114753.3(ENG):c.255C>T (p.Ser85=) rs2131895211
NM_001114753.3(ENG):c.266G>C (p.Gly89Ala)
NM_001114753.3(ENG):c.268_274del (p.Thr90fs)
NM_001114753.3(ENG):c.269C>T (p.Thr90Ile)
NM_001114753.3(ENG):c.26C>G (p.Ala9Gly)
NM_001114753.3(ENG):c.272G>A (p.Trp91Ter)
NM_001114753.3(ENG):c.277C>G (p.Arg93Gly)
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_001114753.3(ENG):c.277dup (p.Arg93fs) rs1830717066
NM_001114753.3(ENG):c.278del (p.Arg93fs)
NM_001114753.3(ENG):c.27T>C (p.Ala9=) rs2131936584
NM_001114753.3(ENG):c.280G>T (p.Glu94Ter) rs1588585941
NM_001114753.3(ENG):c.283G>T (p.Val95Leu)
NM_001114753.3(ENG):c.285G>A (p.Val95=) rs1644523483
NM_001114753.3(ENG):c.290T>G (p.Leu97Arg) rs2131895129
NM_001114753.3(ENG):c.293T>A (p.Val98Asp) rs1830715947
NM_001114753.3(ENG):c.297C>T (p.Leu99=) rs2131895105
NM_001114753.3(ENG):c.2T>G (p.Met1Arg) rs267606783
NM_001114753.3(ENG):c.310A>C (p.Ser104Arg) rs757343854
NM_001114753.3(ENG):c.314T>A (p.Val105Asp) rs1588585880
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.320T>G (p.Leu107Arg)
NM_001114753.3(ENG):c.320_328del (p.Leu107_Leu109del) rs1830714023
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr) rs1060501425
NM_001114753.3(ENG):c.327C>G (p.Leu109=)
NM_001114753.3(ENG):c.328C>T (p.Gln110Ter) rs1830713927
NM_001114753.3(ENG):c.32C>T (p.Ala11Val)
NM_001114753.3(ENG):c.331G>A (p.Ala111Thr)
NM_001114753.3(ENG):c.332C>T (p.Ala111Val) rs1029247883
NM_001114753.3(ENG):c.343C>T (p.Pro115Ser) rs759368120
NM_001114753.3(ENG):c.348G>A (p.Leu116=) rs1205469132
NM_001114753.3(ENG):c.350A>C (p.His117Pro) rs1588585799
NM_001114753.3(ENG):c.359A>G (p.Tyr120Cys) rs863223533
NM_001114753.3(ENG):c.35T>C (p.Leu12Pro) rs1829096574
NM_001114753.3(ENG):c.35T>G (p.Leu12Arg)
NM_001114753.3(ENG):c.360+12C>G rs1830711464
NM_001114753.3(ENG):c.360+1G>A rs886039505
NM_001114753.3(ENG):c.360+1G>C rs886039505
NM_001114753.3(ENG):c.360+1G>T rs886039505
NM_001114753.3(ENG):c.360+2T>C
NM_001114753.3(ENG):c.360+2dup
NM_001114753.3(ENG):c.360+4A>G rs1564457752
NM_001114753.3(ENG):c.360+4_360+7del rs2131894927
NM_001114753.3(ENG):c.360+5G>A rs1060501417
NM_001114753.3(ENG):c.360+5G>C rs1060501417
NM_001114753.3(ENG):c.360C>A (p.Tyr120Ter) rs121918402
NM_001114753.3(ENG):c.361-11T>A
NM_001114753.3(ENG):c.361-36_370del rs2131890746
NM_001114753.3(ENG):c.370C>G (p.Leu124Val)
NM_001114753.3(ENG):c.373G>C (p.Val125Leu) rs1564456745
NM_001114753.3(ENG):c.374T>A (p.Val125Asp) rs750115837
NM_001114753.3(ENG):c.375_378dup (p.Phe127fs) rs2131890702
NM_001114753.3(ENG):c.37C>A (p.Leu13Met)
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.392del (p.Pro131fs) rs1554810510
NM_001114753.3(ENG):c.392dup (p.Val133fs)
NM_001114753.3(ENG):c.396_397delinsAA (p.Val133Ile) rs1554810507
NM_001114753.3(ENG):c.397G>T (p.Val133Phe)
NM_001114753.3(ENG):c.397del (p.Val133fs) rs1588583640
NM_001114753.3(ENG):c.397dup (p.Val133fs) rs1588583640
NM_001114753.3(ENG):c.3G>A (p.Met1Ile)
NM_001114753.3(ENG):c.400A>G (p.Asn134Asp)
NM_001114753.3(ENG):c.405dup (p.Thr136fs) rs2131890631
NM_001114753.3(ENG):c.410A>G (p.Glu137Gly)
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.41T>C (p.Leu14Pro) rs1554813788
NM_001114753.3(ENG):c.41_51dup (p.Ser18fs)
NM_001114753.3(ENG):c.41del (p.Leu14fs)
NM_001114753.3(ENG):c.428A>C (p.Lys143Thr)
NM_001114753.3(ENG):c.435G>C (p.Gln145His)
NM_001114753.3(ENG):c.437del (p.Ile146fs)
NM_001114753.3(ENG):c.441T>A (p.Leu147=)
NM_001114753.3(ENG):c.441T>C (p.Leu147=)
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys) rs878853657
NM_001114753.3(ENG):c.451G>T (p.Ala151Ser) rs2131890519
NM_001114753.3(ENG):c.456G>A (p.Glu152=) rs1588583553
NM_001114753.3(ENG):c.457A>G (p.Arg153Gly)
NM_001114753.3(ENG):c.457A>T (p.Arg153Trp) rs1323149703
NM_001114753.3(ENG):c.457_458del (p.Arg153fs) rs2131890509
NM_001114753.3(ENG):c.45C>T (p.Ala15=)
NM_001114753.3(ENG):c.461dup (p.Ile156fs) rs1830620889
NM_001114753.3(ENG):c.463_486del (p.Pro155_Leu162del)
NM_001114753.3(ENG):c.468del (p.Thr157fs) rs1830620832
NM_001114753.3(ENG):c.478dup (p.Ala160fs)
NM_001114753.3(ENG):c.482A>C (p.Glu161Ala)
NM_001114753.3(ENG):c.485T>C (p.Leu162Pro) rs2131890481
NM_001114753.3(ENG):c.487A>T (p.Asn163Tyr) rs539165395
NM_001114753.3(ENG):c.488_491del (p.Asn163fs) rs1588583530
NM_001114753.3(ENG):c.494C>T (p.Pro165Leu) rs1830620321
NM_001114753.3(ENG):c.496dup (p.Gln166fs) rs1830620247
NM_001114753.3(ENG):c.497A>C (p.Gln166Pro) rs994887264
NM_001114753.3(ENG):c.497A>G (p.Gln166Arg)
NM_001114753.3(ENG):c.498G>C (p.Gln166His) rs1167818567
NM_001114753.3(ENG):c.500G>T (p.Ser167Ile) rs755988915
NM_001114753.3(ENG):c.501C>T (p.Ser167=)
NM_001114753.3(ENG):c.503T>A (p.Ile168Asn) rs2131890414
NM_001114753.3(ENG):c.505C>T (p.Leu169Phe) rs2131890408
NM_001114753.3(ENG):c.507C>T (p.Leu169=) rs750014839
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter) rs1554810490
NM_001114753.3(ENG):c.512G>T (p.Arg171Leu)
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.523+1G>A rs113930974
NM_001114753.3(ENG):c.523+1G>C rs113930974
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser) rs1588583488
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.527del (p.Gln176fs) rs1830603743
NM_001114753.3(ENG):c.530G>A (p.Gly177Glu) rs1830603623
NM_001114753.3(ENG):c.536T>C (p.Leu179Pro)
NM_001114753.3(ENG):c.547A>G (p.Met183Val) rs1830603171
NM_001114753.3(ENG):c.549G>A (p.Met183Ile)
NM_001114753.3(ENG):c.556G>A (p.Ala186Thr) rs1427261977
NM_001114753.3(ENG):c.558del (p.Ser187fs) rs2131889490
NM_001114753.3(ENG):c.561C>A (p.Ser187Arg)
NM_001114753.3(ENG):c.562C>T (p.Gln188Ter) rs863223537
NM_001114753.3(ENG):c.562dup (p.Gln188fs) rs1588582962
NM_001114753.3(ENG):c.565G>A (p.Asp189Asn) rs147792018
NM_001114753.3(ENG):c.565G>T (p.Asp189Tyr) rs147792018
NM_001114753.3(ENG):c.568A>G (p.Met190Val)
NM_001114753.3(ENG):c.569T>A (p.Met190Lys) rs1830602163
NM_001114753.3(ENG):c.571_573delinsTG (p.Gly191fs) rs1830601919
NM_001114753.3(ENG):c.572del (p.Gly191fs) rs1564456374
NM_001114753.3(ENG):c.574C>G (p.Arg192Gly) rs537215880
NM_001114753.3(ENG):c.574C>T (p.Arg192Cys)
NM_001114753.3(ENG):c.575_577dup (p.Arg192_Thr193insSer)
NM_001114753.3(ENG):c.576C>G (p.Arg192=)
NM_001114753.3(ENG):c.577A>G (p.Thr193Ala) rs1588582905
NM_001114753.3(ENG):c.577_588delinsGT (p.Thr193fs) rs1830601036
NM_001114753.3(ENG):c.578C>T (p.Thr193Met) rs775442178
NM_001114753.3(ENG):c.580_596del (p.Leu194fs) rs2131889284
NM_001114753.3(ENG):c.581T>C (p.Leu194Pro) rs2131889364
NM_001114753.3(ENG):c.581_605del (p.Leu194fs)
NM_001114753.3(ENG):c.583G>C (p.Glu195Gln) rs1255912441
NM_001114753.3(ENG):c.585G>C (p.Glu195Asp)
NM_001114753.3(ENG):c.586T>A (p.Trp196Arg) rs2131889336
NM_001114753.3(ENG):c.586T>C (p.Trp196Arg) rs2131889336
NM_001114753.3(ENG):c.587G>A (p.Trp196Ter) rs1588582870
NM_001114753.3(ENG):c.588G>A (p.Trp196Ter) rs1588582860
NM_001114753.3(ENG):c.591G>A (p.Arg197=)
NM_001114753.3(ENG):c.592C>A (p.Pro198Thr) rs902721446
NM_001114753.3(ENG):c.593C>G (p.Pro198Arg) rs777633247
NM_001114753.3(ENG):c.595_596dup (p.Thr200fs) rs1554810405
NM_001114753.3(ENG):c.595dup (p.Arg199fs)
NM_001114753.3(ENG):c.600_603dup (p.Ala202fs) rs1830599875
NM_001114753.3(ENG):c.602C>A (p.Pro201Gln)
NM_001114753.3(ENG):c.605C>A (p.Ala202Asp) rs750916329
NM_001114753.3(ENG):c.606C>T (p.Ala202=) rs2131889233
NM_001114753.3(ENG):c.613C>A (p.Arg205=)
NM_001114753.3(ENG):c.613dup (p.Arg205fs)
NM_001114753.3(ENG):c.614G>A (p.Arg205Gln) rs751778614
NM_001114753.3(ENG):c.614G>C (p.Arg205Pro)
NM_001114753.3(ENG):c.615G>T (p.Arg205=) rs2131889212
NM_001114753.3(ENG):c.617del (p.Gly206fs) rs1830599423
NM_001114753.3(ENG):c.619T>C (p.Cys207Arg) rs2131889169
NM_001114753.3(ENG):c.621C>A (p.Cys207Ter) rs1440769928
NM_001114753.3(ENG):c.626T>A (p.Leu209Ter) rs1243079862
NM_001114753.3(ENG):c.627G>A (p.Leu209=) rs763087751
NM_001114753.3(ENG):c.635_654del (p.Val212fs)
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.63del (p.Thr22fs)
NM_001114753.3(ENG):c.640_643del (p.Gly214fs) rs864622666
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu) rs1830597676
NM_001114753.3(ENG):c.651G>A (p.Glu217=)
NM_001114753.3(ENG):c.654G>C (p.Ala218=) rs773156160
NM_001114753.3(ENG):c.654_655del (p.Ile220fs) rs2131889054
NM_001114753.3(ENG):c.657_658del (p.Ile220fs) rs2131889044
NM_001114753.3(ENG):c.659T>C (p.Ile220Thr) rs1588582695
NM_001114753.3(ENG):c.65_67+19del
NM_001114753.3(ENG):c.660C>T (p.Ile220=)
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro) rs1554810378
NM_001114753.3(ENG):c.662T>G (p.Leu221Arg) rs1554810378
NM_001114753.3(ENG):c.663G>A (p.Leu221=) rs747788064
NM_001114753.3(ENG):c.665G>A (p.Arg222Lys)
NM_001114753.3(ENG):c.668_685del (p.Val223_Ser228del) rs1830596103
NM_001114753.3(ENG):c.67+1G>A rs1554813783
NM_001114753.3(ENG):c.67+20G>T
NM_001114753.3(ENG):c.67+2T>C rs2131936480
NM_001114753.3(ENG):c.67+5G>T
NM_001114753.3(ENG):c.672G>A (p.Leu224=) rs746358974
NM_001114753.3(ENG):c.673C>A (p.Pro225Thr)
NM_001114753.3(ENG):c.673C>G (p.Pro225Ala) rs1554810373
NM_001114753.3(ENG):c.674C>A (p.Pro225Gln)
NM_001114753.3(ENG):c.674C>G (p.Pro225Arg)
NM_001114753.3(ENG):c.674del (p.Pro225fs) rs1830596596
NM_001114753.3(ENG):c.679_689+7del
NM_001114753.3(ENG):c.67A>C (p.Ser23Arg)
NM_001114753.3(ENG):c.67del (p.Ser23fs) rs878853658
NM_001114753.3(ENG):c.68-18C>A rs372807542
NM_001114753.3(ENG):c.68-1G>A rs878853659
NM_001114753.3(ENG):c.68-2A>T
NM_001114753.3(ENG):c.68-3C>G rs773334730
NM_001114753.3(ENG):c.68-4A>G rs1564462843
NM_001114753.3(ENG):c.682T>A (p.Ser228Thr) rs2131888946
NM_001114753.3(ENG):c.683C>A (p.Ser228Ter) rs1452543778
NM_001114753.3(ENG):c.688G>A (p.Gly230Arg) rs546671241
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+1G>A rs1588582594
NM_001114753.3(ENG):c.689+1G>T
NM_001114753.3(ENG):c.689+20C>A
NM_001114753.3(ENG):c.689+21_689+22del
NM_001114753.3(ENG):c.689+2T>A rs863223535
NM_001114753.3(ENG):c.689+3A>T
NM_001114753.3(ENG):c.68G>C (p.Ser23Thr) rs1253367171
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.690-1G>A rs1554810272
NM_001114753.3(ENG):c.690-1G>C rs1554810272
NM_001114753.3(ENG):c.690-2A>T rs1564455970
NM_001114753.3(ENG):c.690-5C>A
NM_001114753.3(ENG):c.692C>A (p.Pro231His) rs1289232116
NM_001114753.3(ENG):c.694_699del (p.Arg232_Thr233del) rs2131888057
NM_001114753.3(ENG):c.695G>T (p.Arg232Leu) rs772467926
NM_001114753.3(ENG):c.697_699del (p.Thr233del)
NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1]) rs1588582060
NM_001114753.3(ENG):c.699G>A (p.Thr233=)
NM_001114753.3(ENG):c.704C>A (p.Thr235Lys) rs1361480439
NM_001114753.3(ENG):c.705G>C (p.Thr235=) rs755116051
NM_001114753.3(ENG):c.706G>A (p.Val236Met)
NM_001114753.3(ENG):c.706_708del (p.Val236del) rs1064794221
NM_001114753.3(ENG):c.707T>A (p.Val236Glu) rs1588582073
NM_001114753.3(ENG):c.712G>T (p.Val238Leu)
NM_001114753.3(ENG):c.713T>A (p.Val238Glu) rs1060501415
NM_001114753.3(ENG):c.715G>T (p.Glu239Ter) rs1064794220
NM_001114753.3(ENG):c.715dup (p.Glu239fs) rs1554810257
NM_001114753.3(ENG):c.716A>T (p.Glu239Val)
NM_001114753.3(ENG):c.718C>T (p.Leu240=)
NM_001114753.3(ENG):c.720G>A (p.Leu240=)
NM_001114753.3(ENG):c.721_725del (p.Ser241fs) rs1064794219
NM_001114753.3(ENG):c.728C>T (p.Ala243Val)
NM_001114753.3(ENG):c.729A>C (p.Ala243=) rs1242657224
NM_001114753.3(ENG):c.743del (p.Asp248fs) rs1588581961
NM_001114753.3(ENG):c.747C>G (p.Ala249=)
NM_001114753.3(ENG):c.752T>A (p.Leu251His)
NM_001114753.3(ENG):c.752_768del (p.Leu251fs) rs1830580547
NM_001114753.3(ENG):c.753C>T (p.Leu251=) rs1830581337
NM_001114753.3(ENG):c.753_781del (p.Ile252fs) rs1588581867
NM_001114753.3(ENG):c.754_756del (p.Ile252del)
NM_001114753.3(ENG):c.755T>C (p.Ile252Thr) rs2131887851
NM_001114753.3(ENG):c.764G>T (p.Gly255Val) rs2131887828
NM_001114753.3(ENG):c.765del (p.Tyr258fs) rs1554810232
NM_001114753.3(ENG):c.766C>T (p.Pro256Ser) rs143779963
NM_001114753.3(ENG):c.766_776del (p.Pro256fs) rs1830579764
NM_001114753.3(ENG):c.767_786del (p.Pro256fs) rs2131887701
NM_001114753.3(ENG):c.769C>G (p.Pro257Ala) rs1830580408
NM_001114753.3(ENG):c.770C>T (p.Pro257Leu) rs756252418
NM_001114753.3(ENG):c.770_771del (p.Pro257fs) rs1588581902
NM_001114753.3(ENG):c.771del (p.Tyr258fs) rs1588581902
NM_001114753.3(ENG):c.771dup (p.Tyr258fs) rs1588581902
NM_001114753.3(ENG):c.772del (p.Tyr258fs) rs1830580093
NM_001114753.3(ENG):c.773_776delinsGCAGGGTC (p.Tyr258fs)
NM_001114753.3(ENG):c.774C>A (p.Tyr258Ter) rs537154767
NM_001114753.3(ENG):c.775G>A (p.Val259Met)
NM_001114753.3(ENG):c.776del (p.Val259fs) rs1588581880
NM_001114753.3(ENG):c.777G>T (p.Val259=) rs2131887746
NM_001114753.3(ENG):c.777_778dup (p.Ser260fs) rs1830579577
NM_001114753.3(ENG):c.778dup (p.Ser260fs) rs2131887737
NM_001114753.3(ENG):c.782G>A (p.Trp261Ter) rs1060501420
NM_001114753.3(ENG):c.782G>T (p.Trp261Leu) rs1060501420
NM_001114753.3(ENG):c.787_789del (p.Ile263del) rs1830579035
NM_001114753.3(ENG):c.789C>T (p.Ile263=)
NM_001114753.3(ENG):c.790_798del (p.Asp264_Asn266del) rs2131887656
NM_001114753.3(ENG):c.794C>A (p.Ala265Asp) rs2131887657
NM_001114753.3(ENG):c.799_804del (p.His267_Asn268del) rs1588581812
NM_001114753.3(ENG):c.79A>G (p.Thr27Ala)
NM_001114753.3(ENG):c.7C>G (p.Arg3Gly) rs139334561
NM_001114753.3(ENG):c.806T>A (p.Met269Lys) rs752331196
NM_001114753.3(ENG):c.806T>C (p.Met269Thr) rs752331196
NM_001114753.3(ENG):c.806T>G (p.Met269Arg) rs752331196
NM_001114753.3(ENG):c.808C>T (p.Gln270Ter) rs1554810215
NM_001114753.3(ENG):c.809A>G (p.Gln270Arg)
NM_001114753.3(ENG):c.815G>A (p.Trp272Ter) rs1588581785
NM_001114753.3(ENG):c.816+11C>T
NM_001114753.3(ENG):c.816+13C>T
NM_001114753.3(ENG):c.816+20C>T
NM_001114753.3(ENG):c.816+2T>C
NM_001114753.3(ENG):c.816+8G>A
NM_001114753.3(ENG):c.816+9T>A rs1830577813
NM_001114753.3(ENG):c.816G>A (p.Trp272Ter) rs886041326
NM_001114753.3(ENG):c.817-1G>C rs1564455715
NM_001114753.3(ENG):c.817-3T>C
NM_001114753.3(ENG):c.818C>T (p.Thr273Ile) rs727503038
NM_001114753.3(ENG):c.819C>T (p.Thr273=) rs2131887210
NM_001114753.3(ENG):c.821C>T (p.Thr274Ile) rs1169613826
NM_001114753.3(ENG):c.822T>C (p.Thr274=) rs2131887195
NM_001114753.3(ENG):c.824G>A (p.Gly275Glu) rs2131887192
NM_001114753.3(ENG):c.825A>G (p.Gly275=)
NM_001114753.3(ENG):c.828del (p.Glu276fs)
NM_001114753.3(ENG):c.829T>C (p.Tyr277His) rs1460443094
NM_001114753.3(ENG):c.830A>G (p.Tyr277Cys)
NM_001114753.3(ENG):c.831C>A (p.Tyr277Ter) rs121918400
NM_001114753.3(ENG):c.831C>G (p.Tyr277Ter) rs121918400
NM_001114753.3(ENG):c.832T>C (p.Ser278Pro)
NM_001114753.3(ENG):c.836T>G (p.Phe279Cys)
NM_001114753.3(ENG):c.836del (p.Phe279fs) rs2131887155
NM_001114753.3(ENG):c.844T>G (p.Phe282Val)
NM_001114753.3(ENG):c.851del (p.Glu284fs) rs2131887114
NM_001114753.3(ENG):c.854A>G (p.Lys285Arg)
NM_001114753.3(ENG):c.862C>T (p.Arg288Cys)
NM_001114753.3(ENG):c.863_867dup (p.Phe290fs) rs2131887087
NM_001114753.3(ENG):c.866G>A (p.Gly289Asp) rs1830570208
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.872_874delinsT (p.Lys291fs)
NM_001114753.3(ENG):c.872_883del (p.Lys291_Asp294del) rs2131887067
NM_001114753.3(ENG):c.875dup (p.Asp294fs)
NM_001114753.3(ENG):c.880_881del (p.Asp294fs) rs886042916
NM_001114753.3(ENG):c.884C>T (p.Thr295Ile) rs12042
NM_001114753.3(ENG):c.885_886del (p.Pro296fs)
NM_001114753.3(ENG):c.889C>G (p.Gln297Glu) rs1830569895
NM_001114753.3(ENG):c.88T>A (p.Cys30Ser) rs1564462834
NM_001114753.3(ENG):c.88T>C (p.Cys30Arg) rs1564462834
NM_001114753.3(ENG):c.895C>G (p.Leu299Val)
NM_001114753.3(ENG):c.896T>G (p.Leu299Arg) rs1830569662
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro) rs1335718486
NM_001114753.3(ENG):c.89G>A (p.Cys30Tyr)
NM_001114753.3(ENG):c.8G>A (p.Arg3His) rs1588604597
NM_001114753.3(ENG):c.901G>C (p.Gly301Arg) rs1830569316
NM_001114753.3(ENG):c.904G>T (p.Glu302Ter) rs1060501419
NM_001114753.3(ENG):c.904dup (p.Glu302fs) rs1554810177
NM_001114753.3(ENG):c.909C>T (p.Ala303=) rs200306464
NM_001114753.3(ENG):c.910C>G (p.Arg304Gly) rs754842280
NM_001114753.3(ENG):c.910C>T (p.Arg304Trp) rs754842280
NM_001114753.3(ENG):c.911_918del (p.Arg304fs) rs1564455604
NM_001114753.3(ENG):c.919A>G (p.Asn307Asp) rs1830568253
NM_001114753.3(ENG):c.91G>A (p.Asp31Asn) rs1831084391
NM_001114753.3(ENG):c.920A>T (p.Asn307Ile)
NM_001114753.3(ENG):c.920dup (p.Asn307fs) rs1554810174
NM_001114753.3(ENG):c.922dup (p.Ala308fs) rs2131886942
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp) rs1482440395
NM_001114753.3(ENG):c.923_925dup (p.Ala308_Ser309insThr) rs1830567981
NM_001114753.3(ENG):c.924_927dup (p.Ile310fs)
NM_001114753.3(ENG):c.932T>G (p.Val311Gly)
NM_001114753.3(ENG):c.933G>A (p.Val311=)
NM_001114753.3(ENG):c.933G>T (p.Val311=)
NM_001114753.3(ENG):c.942C>T (p.Phe314=) rs767171893
NM_001114753.3(ENG):c.943G>T (p.Val315Leu)
NM_001114753.3(ENG):c.944_945del (p.Val315fs)
NM_001114753.3(ENG):c.950T>A (p.Leu317Gln)
NM_001114753.3(ENG):c.950T>C (p.Leu317Pro)
NM_001114753.3(ENG):c.951_956del (p.Pro318_Leu319del) rs1830567220
NM_001114753.3(ENG):c.952C>A (p.Pro318Thr)
NM_001114753.3(ENG):c.953C>G (p.Pro318Arg) rs1830567408
NM_001114753.3(ENG):c.954G>T (p.Pro318=) rs149590262
NM_001114753.3(ENG):c.955_956insGAAGACAA (p.Leu319fs)
NM_001114753.3(ENG):c.956T>G (p.Leu319Arg)
NM_001114753.3(ENG):c.95T>A (p.Leu32His)
NM_001114753.3(ENG):c.965T>C (p.Ile322Thr)
NM_001114753.3(ENG):c.965_966del (p.Ile322fs)
NM_001114753.3(ENG):c.966T>G (p.Ile322Met)
NM_001114753.3(ENG):c.966dup (p.Val323fs)
NM_001114753.3(ENG):c.96T>C (p.Leu32=)
NM_001114753.3(ENG):c.970T>C (p.Ser324Pro) rs1830566735
NM_001114753.3(ENG):c.973dup (p.Leu325fs)
NM_001114753.3(ENG):c.974T>A (p.Leu325His)
NM_001114753.3(ENG):c.982T>A (p.Ser328Thr)
NM_001114753.3(ENG):c.983_984delinsAG (p.Ser328Ter) rs1588581338
NM_001114753.3(ENG):c.985A>T (p.Ser329Cys) rs1280918470
NM_001114753.3(ENG):c.989G>T (p.Cys330Phe)
NM_001114753.3(ENG):c.990C>A (p.Cys330Ter)
NM_001114753.3(ENG):c.991+1del
NM_001114753.3(ENG):c.991+2T>C rs1564455554
NM_001114753.3(ENG):c.991+2T>G rs1564455554
NM_001114753.3(ENG):c.991+4A>G rs2131886797
NM_001114753.3(ENG):c.991+7A>G
NM_001114753.3(ENG):c.991+8C>A rs2131886790
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001114753.3(ENG):c.992-2A>G rs1588580932
NM_001114753.3(ENG):c.992-3C>G rs1830552318
NM_001114753.3(ENG):c.992-3C>T rs1830552318
NM_001114753.3(ENG):c.992-49_1046del
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.992G>T (p.Gly331Val)
NM_001114753.3(ENG):c.996T>C (p.Gly332=) rs759964114
NM_001114753.3(ENG):c.996_997dup (p.Arg333fs) rs2131886094
NM_001114753.3(ENG):c.997_1001del (p.Arg333fs)
NM_001114753.3(ENG):c.998G>A (p.Arg333Lys)
NM_002890.3(RASA1):c.3028C>T (p.Arg1010Ter) rs1762317272

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