ClinVar Miner

List of variants in gene ENG

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1071
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HGVS dbSNP gnomAD frequency
NC_000009.12:g.127854979T>G rs4836586 0.99091
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.219+25G>T rs7847860 0.06245
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405 0.04608
NM_001114753.3(ENG):c.68-215T>C rs11789912 0.03711
NM_001114753.3(ENG):c.1060C>T (p.Leu354=) rs36092484 0.03618
NM_001114753.3(ENG):c.991+58A>T rs12002508 0.01910
NM_001114753.3(ENG):c.360+21C>T rs41355248 0.01861
NM_001114753.3(ENG):c.68-256A>G rs41505655 0.01576
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947 0.01435
NM_001114753.3(ENG):c.524-30G>A rs41409546 0.01314
NM_001114753.3(ENG):c.67+254A>G rs143016113 0.01181
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_001114753.3(ENG):c.1932C>T (p.Ile644=) rs181330955 0.00609
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.523+235C>T rs41377844 0.00329
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.1852+52G>C rs371104611 0.00083
NM_001114753.3(ENG):c.*491C>T rs190129922 0.00081
NM_001114753.3(ENG):c.-289A>T rs538284289 0.00081
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.1853-27C>T rs376579767 0.00043
NM_001114753.3(ENG):c.*449C>G rs529337078 0.00042
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.219+23G>A rs200726108 0.00037
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser) rs150932144 0.00034
NM_001114753.3(ENG):c.-63C>T rs886063476 0.00028
NM_001114753.3(ENG):c.1095C>T (p.Asp365=) rs142803546 0.00026
NM_001114753.3(ENG):c.*523A>G rs72616667 0.00024
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.388C>T (p.Pro130Ser) rs199840979 0.00021
NM_000118.3(ENG):c.-343C>T rs543301425 0.00020
NM_001114753.3(ENG):c.-246T>C rs886063478 0.00020
NM_001114753.3(ENG):c.-70C>T rs562538400 0.00020
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.-227C>G rs955866378 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.*266G>A rs764451017 0.00010
NM_001114753.3(ENG):c.850G>A (p.Glu284Lys) rs372045549 0.00010
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.*273A>C rs138178682 0.00008
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.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.690-59C>A rs369047677 0.00008
NM_001114753.3(ENG):c.*492G>A rs148192743 0.00007
NM_001114753.3(ENG):c.121G>A (p.Glu41Lys) rs199675436 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.*558A>G rs143099696 0.00006
NM_001114753.3(ENG):c.-76C>T rs943786398 0.00006
NM_001114753.3(ENG):c.-98G>A rs923040659 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.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.1761C>T (p.Leu587=) rs546872552 0.00004
NM_001114753.3(ENG):c.1851G>A (p.Thr617=) rs747344646 0.00004
NM_001114753.3(ENG):c.1853-9C>T rs368472273 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.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.*4C>T rs775604819 0.00002
NM_001114753.3(ENG):c.-23G>A rs1311087483 0.00002
NM_001114753.3(ENG):c.-59C>T rs1003149967 0.00002
NM_001114753.3(ENG):c.1134+16C>T rs544624587 0.00002
NM_001114753.3(ENG):c.149C>T (p.Ser50Leu) rs927607049 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.1876G>A (p.Val626Met) rs745843047 0.00002
NM_001114753.3(ENG):c.338G>A (p.Gly113Glu) rs1169024767 0.00002
NM_001114753.3(ENG):c.361-12_361-11del rs781079790 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.*109C>T rs553180494 0.00001
NM_001114753.3(ENG):c.*133C>T rs539680928 0.00001
NM_001114753.3(ENG):c.*150C>A rs886063475 0.00001
NM_001114753.3(ENG):c.*252C>A rs886063474 0.00001
NM_001114753.3(ENG):c.*431T>G rs549011956 0.00001
NM_001114753.3(ENG):c.*438G>A rs1830275627 0.00001
NM_001114753.3(ENG):c.*534C>T rs893984357 0.00001
NM_001114753.3(ENG):c.*586C>T rs1045413208 0.00001
NM_001114753.3(ENG):c.-10C>T rs756994701 0.00001
NM_001114753.3(ENG):c.-249C>A rs914868382 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.1058A>G (p.Glu353Gly) rs868730895 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.158G>A (p.Cys53Tyr) rs187643086 0.00001
NM_001114753.3(ENG):c.160G>A (p.Val54Met) rs923794879 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.1853-18C>T rs908692674 0.00001
NM_001114753.3(ENG):c.185T>A (p.Leu62His) rs1060501424 0.00001
NM_001114753.3(ENG):c.1955G>A (p.Cys652Tyr) rs774869649 0.00001
NM_001114753.3(ENG):c.1970T>C (p.Met657Thr) rs768873662 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
GRCh37/hg19 9q34.11(chr9:130581787-130582459)
NC_000009.11:g.(?_130577951)_(130581121_?)del
NC_000009.11:g.(?_130577951)_(130582326_?)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)_(130592126_?)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_000009.11:g.(?_130605373)_(130605524_?)dup
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.(?_127819612)_(127820047_?)dup
NC_000009.12:g.(?_127819612)_(127829837_?)del
NC_000009.12:g.(?_127824284)_(127824994_?)del
NC_000009.12:g.(?_127824284)_(127829847_?)del
NC_000009.12:g.(?_127824284)_(127854482_?)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.(?_127843088)_(127843251_?)del
NC_000009.12:g.(?_127843094)_(127843245_?)del
NC_000009.12:g.(?_127854269)_(127854482_?)del
NC_000009.12:g.(?_127854279)_(127854365_?)del
NC_000009.12:g.(?_127854279)_(127854482_?)del
NM_000118.3(ENG):c.-338G>A rs534779092
NM_000118.3(ENG):c.-339C>T rs554349374
NM_000118.3(ENG):c.-364G>A rs1011392059
NM_000118.3(ENG):c.-395C>A rs886063479
NM_001114753.3(ENG):c.*320G>A rs41478248
NM_001114753.3(ENG):c.*391G>A rs1830277239
NM_001114753.3(ENG):c.*424G>C rs1482022005
NM_001114753.3(ENG):c.*461AACT[1] rs41514846
NM_001114753.3(ENG):c.*530T>A rs1830273682
NM_001114753.3(ENG):c.*533G>A rs1830273631
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.-289A>C rs538284289
NM_001114753.3(ENG):c.-2G>A
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.1002_1003delinsCT (p.Gln335Ter)
NM_001114753.3(ENG):c.1003C>T (p.Gln335Ter)
NM_001114753.3(ENG):c.1015_1024del (p.Ala339fs) rs1554810066
NM_001114753.3(ENG):c.1017A>G (p.Ala339=) rs2131886064
NM_001114753.3(ENG):c.1018C>T (p.Pro340Ser) rs773463077
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.1039A>T (p.Lys347Ter) rs1446116085
NM_001114753.3(ENG):c.1042_1054del (p.Asp348fs)
NM_001114753.3(ENG):c.1042del (p.Asp348fs) rs2131885976
NM_001114753.3(ENG):c.1047T>C (p.Thr349=) rs1554810058
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.1071_1080dup (p.Thr361fs)
NM_001114753.3(ENG):c.1076T>A (p.Ile359Asn) rs2131885879
NM_001114753.3(ENG):c.1076T>C (p.Ile359Thr)
NM_001114753.3(ENG):c.1076T>G (p.Ile359Ser)
NM_001114753.3(ENG):c.1076dup (p.Gln360fs) rs2131885883
NM_001114753.3(ENG):c.1077C>A (p.Ile359=) rs1830549327
NM_001114753.3(ENG):c.1078C>T (p.Gln360Ter)
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.1087T>G (p.Cys363Gly)
NM_001114753.3(ENG):c.1088G>A (p.Cys363Tyr)
NM_001114753.3(ENG):c.1088G>C (p.Cys363Ser) rs1588580782
NM_001114753.3(ENG):c.1088dup (p.Cys363fs)
NM_001114753.3(ENG):c.1089T>C (p.Cys363=)
NM_001114753.3(ENG):c.1089T>G (p.Cys363Trp) rs777177134
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>A (p.Ala367Thr)
NM_001114753.3(ENG):c.1099G>C (p.Ala367Pro) rs372371435
NM_001114753.3(ENG):c.1099_1102del (p.Asp366_Ala367insTer)
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.1104del (p.Met368fs)
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.1109T>C (p.Leu370Pro)
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.111del (p.Glu38fs)
NM_001114753.3(ENG):c.1120A>G (p.Lys374Glu)
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.1122_1125del (p.Lys374fs)
NM_001114753.3(ENG):c.1122dup (p.Glu375fs) rs2131885756
NM_001114753.3(ENG):c.1124_1125del (p.Glu375fs) rs1554810037
NM_001114753.3(ENG):c.1130T>C (p.Val377Ala)
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.1134+1G>T
NM_001114753.3(ENG):c.1134G>C (p.Ala378=) rs1329127701
NM_001114753.3(ENG):c.116G>A (p.Arg39Lys) rs892005175
NM_001114753.3(ENG):c.118G>T (p.Gly40Cys) rs778319338
NM_001114753.3(ENG):c.119_133del (p.Gly40_Thr45delinsAla)
NM_001114753.3(ENG):c.119del (p.Gly40fs) rs369596004
NM_001114753.3(ENG):c.121G>T (p.Glu41Ter)
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.132_133del (p.Thr45fs) rs2131918640
NM_001114753.3(ENG):c.137C>T (p.Thr46Ile) rs1393437924
NM_001114753.3(ENG):c.142C>T (p.Gln48Ter) rs1831082433
NM_001114753.3(ENG):c.145G>T (p.Val49Phe) rs1252348200
NM_001114753.3(ENG):c.146T>A (p.Val49Asp)
NM_001114753.3(ENG):c.146del (p.Val49fs) rs1831082309
NM_001114753.3(ENG):c.149C>A (p.Ser50Ter) rs927607049
NM_001114753.3(ENG):c.150G>A (p.Ser50=) rs377129516
NM_001114753.3(ENG):c.153G>C (p.Lys51Asn)
NM_001114753.3(ENG):c.154G>C (p.Gly52Arg)
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp) rs1564462765
NM_001114753.3(ENG):c.157T>C (p.Cys53Arg)
NM_001114753.3(ENG):c.158G>C (p.Cys53Ser) rs187643086
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter) rs148475405
NM_001114753.3(ENG):c.15G>A (p.Thr5=)
NM_001114753.3(ENG):c.164del (p.Ala55fs) rs1831081460
NM_001114753.3(ENG):c.166C>T (p.Gln56Ter) rs1588596879
NM_001114753.3(ENG):c.16C>T (p.Leu6Phe)
NM_001114753.3(ENG):c.170C>G (p.Ala57Gly)
NM_001114753.3(ENG):c.171C>T (p.Ala57=)
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.1804del (p.Ile602fs) rs1085307435
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.1818C>A (p.Leu606=) rs1588572499
NM_001114753.3(ENG):c.1821T>C (p.Thr607=)
NM_001114753.3(ENG):c.1826C>T (p.Ala609Val)
NM_001114753.3(ENG):c.182T>C (p.Ile61Thr)
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+21_1852+22del
NM_001114753.3(ENG):c.1852+23G>A
NM_001114753.3(ENG):c.1852+25G>A
NM_001114753.3(ENG):c.1852+36G>T rs1588572388
NM_001114753.3(ENG):c.1852+37C>A
NM_001114753.3(ENG):c.1852+3G>A
NM_001114753.3(ENG):c.1852+51C>G rs373626498
NM_001114753.3(ENG):c.1852C>G (p.Arg618Gly)
NM_001114753.3(ENG):c.1853-14GCTCCC[3] rs373296026
NM_001114753.3(ENG):c.1853-8_1853-3del
NM_001114753.3(ENG):c.1853G>T (p.Arg618Leu) rs1085307436
NM_001114753.3(ENG):c.1857C>A (p.Ser619=)
NM_001114753.3(ENG):c.1860C>A (p.Pro620=)
NM_001114753.3(ENG):c.1868G>A (p.Arg623Gln)
NM_001114753.3(ENG):c.187G>T (p.Glu63Ter) rs1588596830
NM_001114753.3(ENG):c.1883C>T (p.Ala628Val)
NM_001114753.3(ENG):c.1884G>A (p.Ala628=)
NM_001114753.3(ENG):c.1890T>G (p.Ala630=)
NM_001114753.3(ENG):c.189A>G (p.Glu63=)
NM_001114753.3(ENG):c.1900T>G (p.Ser634Ala)
NM_001114753.3(ENG):c.1904C>T (p.Ser635Leu)
NM_001114753.3(ENG):c.1905G>A (p.Ser635=)
NM_001114753.3(ENG):c.1920C>G (p.Thr640=)
NM_001114753.3(ENG):c.1923C>T (p.Asn641=)
NM_001114753.3(ENG):c.1926C>T (p.His642=)
NM_001114753.3(ENG):c.1928G>A (p.Ser643Asn)
NM_001114753.3(ENG):c.192C>T (p.Val64=)
NM_001114753.3(ENG):c.1934G>C (p.Gly645Ala)
NM_001114753.3(ENG):c.1935G>A (p.Gly645=)
NM_001114753.3(ENG):c.194A>G (p.His65Arg) rs1267116267
NM_001114753.3(ENG):c.195T>C (p.His65=) rs769288237
NM_001114753.3(ENG):c.1961C>G (p.Thr654Ser) rs1050077
NM_001114753.3(ENG):c.1962C>A (p.Thr654=)
NM_001114753.3(ENG):c.1977G>A (p.Ter659=) rs1337723089
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.205del (p.Leu69fs)
NM_001114753.3(ENG):c.208G>T (p.Glu70Ter) rs1179814153
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+259dup rs148797940
NM_001114753.3(ENG):c.219+2T>A
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>C 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.220-225_991+123del
NM_001114753.3(ENG):c.220-226_1134+331del
NM_001114753.3(ENG):c.220-6C>A rs756342212
NM_001114753.3(ENG):c.220-6C>T rs756342212
NM_001114753.3(ENG):c.220-988_1134+331del
NM_001114753.3(ENG):c.221G>C (p.Gly74Ala)
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.239T>A (p.Leu80Gln)
NM_001114753.3(ENG):c.239T>C (p.Leu80Pro) rs1830718809
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.249G>T (p.Gln83His)
NM_001114753.3(ENG):c.255C>T (p.Ser85=) rs2131895211
NM_001114753.3(ENG):c.258del (p.Lys86fs)
NM_001114753.3(ENG):c.259C>T (p.Gln87Ter) rs730880096
NM_001114753.3(ENG):c.263del (p.Asn88fs)
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.282G>A (p.Glu94=)
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.291G>T (p.Leu97=)
NM_001114753.3(ENG):c.293T>A (p.Val98Asp) rs1830715947
NM_001114753.3(ENG):c.296T>A (p.Leu99His) rs2131895111
NM_001114753.3(ENG):c.297C>T (p.Leu99=) rs2131895105
NM_001114753.3(ENG):c.298_299del (p.Ser100fs) rs1830715784
NM_001114753.3(ENG):c.2T>C (p.Met1Thr) rs267606783
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.312T>C (p.Ser104=)
NM_001114753.3(ENG):c.313_314del (p.Val105fs)
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.319C>T (p.Leu107=)
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.33C>T (p.Ala11=)
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.360+6T>G rs2131894931
NM_001114753.3(ENG):c.360C>A (p.Tyr120Ter) rs121918402
NM_001114753.3(ENG):c.361-11T>A
NM_001114753.3(ENG):c.361-2A>G
NM_001114753.3(ENG):c.361-2A>T
NM_001114753.3(ENG):c.361-311GA[4] rs150688809
NM_001114753.3(ENG):c.361-36_370del rs2131890746
NM_001114753.3(ENG):c.370C>G (p.Leu124Val)
NM_001114753.3(ENG):c.370del (p.Leu124fs) rs1830624241
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.387G>A (p.Glu129=) rs1588583668
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.391_392dup (p.Gly132fs)
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.39del (p.Leu14fs) rs1829096531
NM_001114753.3(ENG):c.3G>A (p.Met1Ile)
NM_001114753.3(ENG):c.3G>T (p.Met1Ile)
NM_001114753.3(ENG):c.400A>G (p.Asn134Asp)
NM_001114753.3(ENG):c.402C>T (p.Asn134=)
NM_001114753.3(ENG):c.405dup (p.Thr136fs) rs2131890631
NM_001114753.3(ENG):c.408del (p.Glu137fs) rs1554810506
NM_001114753.3(ENG):c.410A>G (p.Glu137Gly)
NM_001114753.3(ENG):c.411G>T (p.Glu137Asp)
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_51del (p.Leu14fs) rs1564466393
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.439_440insAAGC (p.Leu147fs)
NM_001114753.3(ENG):c.441T>A (p.Leu147=)
NM_001114753.3(ENG):c.441T>C (p.Leu147=)
NM_001114753.3(ENG):c.444G>T (p.Glu148Asp) rs863223530
NM_001114753.3(ENG):c.445dup (p.Trp149fs)
NM_001114753.3(ENG):c.446G>A (p.Trp149Ter) rs863223534
NM_001114753.3(ENG):c.447G>A (p.Trp149Ter)
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.451_470delinsTCTGCTG (p.Ala151fs)
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.457_458dup (p.Pro155fs)
NM_001114753.3(ENG):c.457dup (p.Arg153fs)
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.465dup (p.Ile156fs) rs2131890499
NM_001114753.3(ENG):c.468del (p.Thr157fs) rs1830620832
NM_001114753.3(ENG):c.469del (p.Thr157fs) rs1554810494
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.492C>A (p.Asp164Glu)
NM_001114753.3(ENG):c.493C>G (p.Pro165Ala)
NM_001114753.3(ENG):c.494C>T (p.Pro165Leu) rs1830620321
NM_001114753.3(ENG):c.496del (p.Gln166fs) rs1830620247
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>A (p.Ser167Arg) rs1830619812
NM_001114753.3(ENG):c.501C>T (p.Ser167=)
NM_001114753.3(ENG):c.502A>T (p.Ile168Phe)
NM_001114753.3(ENG):c.503T>A (p.Ile168Asn) rs2131890414
NM_001114753.3(ENG):c.503TCC[2] (p.Leu170del)
NM_001114753.3(ENG):c.503TCC[4] (p.Leu170_Arg171insLeu) rs1830619692
NM_001114753.3(ENG):c.505C>T (p.Leu169Phe) rs2131890408
NM_001114753.3(ENG):c.506T>C (p.Leu169Pro)
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>C (p.Arg171Pro) rs756980265
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.516G>A (p.Leu172=)
NM_001114753.3(ENG):c.523+10C>T rs1588583485
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.523+229_991+123del
NM_001114753.3(ENG):c.523+5G>C
NM_001114753.3(ENG):c.523G>A (p.Ala175Thr)
NM_001114753.3(ENG):c.523G>C (p.Ala175Pro)
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.524-1G>A rs2131889572
NM_001114753.3(ENG):c.524-1G>T
NM_001114753.3(ENG):c.524-1_689+1del rs1830595697
NM_001114753.3(ENG):c.525C>T (p.Ala175=) rs1588583011
NM_001114753.3(ENG):c.526C>T (p.Gln176Ter) rs1131691674
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.545G>A (p.Cys182Tyr)
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.564G>A (p.Gln188=)
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.574_580del (p.Arg192fs) rs1564456347
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.579_580del (p.Leu194fs)
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_582del (p.Leu194fs)
NM_001114753.3(ENG):c.581_592del (p.Leu194_Arg197del) rs1554810408
NM_001114753.3(ENG):c.581_605del (p.Leu194fs)
NM_001114753.3(ENG):c.582_583insCATG (p.Glu195fs)
NM_001114753.3(ENG):c.582_584del (p.Glu195del)
NM_001114753.3(ENG):c.583G>A (p.Glu195Lys) rs1255912441
NM_001114753.3(ENG):c.583G>C (p.Glu195Gln) rs1255912441
NM_001114753.3(ENG):c.583del (p.Glu195fs) rs1554810413
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>A (p.Arg205=)
NM_001114753.3(ENG):c.615G>T (p.Arg205=) rs2131889212
NM_001114753.3(ENG):c.617del (p.Gly206fs) rs1830599423
NM_001114753.3(ENG):c.618C>A (p.Gly206=) rs1830599217
NM_001114753.3(ENG):c.619T>C (p.Cys207Arg) rs2131889169
NM_001114753.3(ENG):c.619del (p.Cys207fs)
NM_001114753.3(ENG):c.620G>A (p.Cys207Tyr) rs1830599119
NM_001114753.3(ENG):c.620G>T (p.Cys207Phe) rs1830599119
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.63dup (p.Thr22fs) rs1829096099
NM_001114753.3(ENG):c.640_643del (p.Gly214fs) rs864622666
NM_001114753.3(ENG):c.642C>G (p.Gly214=)
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu) rs1830597676
NM_001114753.3(ENG):c.647del (p.Lys216fs)
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.667del (p.Val223fs) rs1588582666
NM_001114753.3(ENG):c.667dup (p.Val223fs) rs1588582666
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+4G>A rs1309975584
NM_001114753.3(ENG):c.67+5G>A rs763111216
NM_001114753.3(ENG):c.67+5G>T
NM_001114753.3(ENG):c.67+6_67+14del rs2131936455
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.673C>T (p.Pro225Ser) 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.674dup (p.His227fs)
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.68-4227_219+104del
NM_001114753.3(ENG):c.68-4A>G rs1564462843
NM_001114753.3(ENG):c.681C>T (p.His227=)
NM_001114753.3(ENG):c.682T>A (p.Ser228Thr) rs2131888946
NM_001114753.3(ENG):c.682_686del (p.Ser228fs) rs1085307430
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+2T>C 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>G rs1564455970
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.700dup (p.Val234fs)
NM_001114753.3(ENG):c.701_705dup (p.Val236Ter)
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.707T>C (p.Val236Ala)
NM_001114753.3(ENG):c.712G>T (p.Val238Leu)
NM_001114753.3(ENG):c.712del (p.Val238fs) rs886041548
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>G (p.Glu239Gly)
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.720G>C (p.Leu240=)
NM_001114753.3(ENG):c.721_725del (p.Ser241fs) rs1064794219
NM_001114753.3(ENG):c.726C>A (p.Cys242Ter) rs545465750
NM_001114753.3(ENG):c.728C>T (p.Ala243Val)
NM_001114753.3(ENG):c.729A>C (p.Ala243=) rs1242657224
NM_001114753.3(ENG):c.732dup (p.Gly245fs) rs1554810254
NM_001114753.3(ENG):c.736del (p.Asp246fs) rs1554810249
NM_001114753.3(ENG):c.740del (p.Leu247fs)
NM_001114753.3(ENG):c.742G>C (p.Asp248His)
NM_001114753.3(ENG):c.742_743insT (p.Asp248fs) rs1213847963
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.752T>C (p.Leu251Pro) rs1554810243
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.758T>C (p.Leu253Pro) rs2131887841
NM_001114753.3(ENG):c.760C>T (p.Gln254Ter) rs1554810234
NM_001114753.3(ENG):c.761_767dup (p.Pro257fs) rs1830580607
NM_001114753.3(ENG):c.763G>T (p.Gly255Cys) rs1830580925
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_767delinsA (p.Pro256fs)
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.774C>G (p.Tyr258Ter) rs537154767
NM_001114753.3(ENG):c.775G>A (p.Val259Met)
NM_001114753.3(ENG):c.776T>G (p.Val259Gly) rs895393705
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.780_789dup (p.Asp264fs) rs1588581846
NM_001114753.3(ENG):c.781T>G (p.Trp261Gly) rs1554810223
NM_001114753.3(ENG):c.781_782dup (p.Trp261fs) rs2131887716
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.788T>A (p.Ile263Asn) rs1085307431
NM_001114753.3(ENG):c.788T>G (p.Ile263Ser) rs1085307431
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+1G>A rs111471193
NM_001114753.3(ENG):c.816+20C>T
NM_001114753.3(ENG):c.816+2T>C
NM_001114753.3(ENG):c.816+5G>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>A rs1564455715
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.822del (p.Gly275fs)
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.838A>T (p.Lys280Ter) rs1588581497
NM_001114753.3(ENG):c.841del (p.Ile281fs)
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.858C>T (p.Asn286=)
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.878del (p.Pro293fs)
NM_001114753.3(ENG):c.880_881del (p.Asp294fs) rs886042916
NM_001114753.3(ENG):c.882_920del (p.Thr295_Asn307del) rs2131886961
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.891A>G (p.Gln297=)
NM_001114753.3(ENG):c.895C>G (p.Leu299Val)
NM_001114753.3(ENG):c.895del (p.Leu299fs) rs1064795636
NM_001114753.3(ENG):c.896T>G (p.Leu299Arg) rs1830569662
NM_001114753.3(ENG):c.896_991+90del rs1554810125
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro) rs1335718486
NM_001114753.3(ENG):c.899_901delinsC (p.Leu300fs) rs1830569401
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.906G>A (p.Glu302=)
NM_001114753.3(ENG):c.908C>A (p.Ala303Asp)
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.910del (p.Arg304fs)
NM_001114753.3(ENG):c.911_918del (p.Arg304fs) rs1564455604
NM_001114753.3(ENG):c.916del (p.Leu306fs)
NM_001114753.3(ENG):c.917T>C (p.Leu306Pro)
NM_001114753.3(ENG):c.917_918del (p.Leu306fs)
NM_001114753.3(ENG):c.919A>G (p.Asn307Asp) rs1830568253
NM_001114753.3(ENG):c.919_920del (p.Asn307fs)
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.933_968del (p.Ala312_Val323del) rs2131886859
NM_001114753.3(ENG):c.934del (p.Ala312fs) rs2131886908
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.954_955delinsACGAAGACAA (p.Leu319fs)
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.967_968del (p.Val323fs) rs1830566817
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.974T>G (p.Leu325Arg) rs760001916
NM_001114753.3(ENG):c.97C>T (p.Gln33Ter) rs1564462827
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.98A>C (p.Gln33Pro) rs863223531
NM_001114753.3(ENG):c.98_101del (p.Gln33fs) rs1554812283
NM_001114753.3(ENG):c.990C>A (p.Cys330Ter)
NM_001114753.3(ENG):c.991+1G>C
NM_001114753.3(ENG):c.991+1del
NM_001114753.3(ENG):c.991+21_991+26dup rs148063362
NM_001114753.3(ENG):c.991+2T>A
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.992-5C>G
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)
Single allele

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