ClinVar Miner

List of variants studied for Exostoses, multiple, type 2

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ClinVar version:
Total variants: 810
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HGVS dbSNP gnomAD frequency
NM_207122.1(EXT2):c.-311G>A rs3923808 0.50004
NM_207122.2(EXT2):c.1080-18T>A rs11037882 0.26140
NM_207122.1(EXT2):c.-331T>C rs10458911 0.25844
NM_207122.2(EXT2):c.1807-51T>C rs11037909 0.25427
NM_207122.2(EXT2):c.1936-41T>C rs3740878 0.23855
NM_207122.2(EXT2):c.-31+7G>T rs58861092 0.08791
NM_207122.2(EXT2):c.124A>G (p.Met42Val) rs4755779 0.01478
NM_207122.2(EXT2):c.264C>T (p.His88=) rs35455466 0.01345
NM_207122.2(EXT2):c.1761G>A (p.Thr587=) rs16937864 0.01303
NM_207122.2(EXT2):c.999T>C (p.Asp333=) rs61733300 0.01271
NM_207122.2(EXT2):c.1174-18G>T rs143595300 0.01161
NM_207122.2(EXT2):c.1017T>C (p.Cys339=) rs11828047 0.00930
NM_207122.2(EXT2):c.*472C>T rs74424177 0.00819
NM_207122.2(EXT2):c.1110G>T (p.Met370Ile) rs34084767 0.00538
NM_207122.2(EXT2):c.-148G>A rs115238130 0.00479
NM_207122.2(EXT2):c.*56G>A rs77554103 0.00371
NM_207122.2(EXT2):c.*101G>C rs117755165 0.00332
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu) rs139525250 0.00236
NM_207122.2(EXT2):c.2019-14T>C rs141747687 0.00173
NM_207122.2(EXT2):c.918C>T (p.Phe306=) rs35436405 0.00139
NM_207122.2(EXT2):c.*646C>T rs189528648 0.00131
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln) rs138187791 0.00113
NM_207122.2(EXT2):c.1641C>T (p.Asp547=) rs75987184 0.00088
NM_207122.2(EXT2):c.1588G>A (p.Glu530Lys) rs148711133 0.00079
NM_207122.2(EXT2):c.965G>A (p.Arg322His) rs149727518 0.00076
NM_207122.2(EXT2):c.358G>A (p.Val120Ile) rs115948531 0.00070
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met) rs138495222 0.00063
NM_207122.2(EXT2):c.1005A>G (p.Leu335=) rs141977888 0.00058
NM_207122.2(EXT2):c.1534G>T (p.Val512Leu) rs147753803 0.00048
NM_207122.2(EXT2):c.1087G>A (p.Val363Met) rs138943091 0.00046
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu) rs141035971 0.00044
NM_207122.2(EXT2):c.1527A>G (p.Leu509=) rs145649534 0.00039
NM_207122.2(EXT2):c.744-10T>G rs200943294 0.00036
NM_207122.2(EXT2):c.150C>T (p.Ile50=) rs138982530 0.00035
NM_207122.2(EXT2):c.*1153A>T rs185285766 0.00034
NM_207122.2(EXT2):c.1912G>A (p.Val638Ile) rs145024832 0.00031
NM_207122.2(EXT2):c.260T>G (p.Met87Arg) rs140075817 0.00031
NM_207122.2(EXT2):c.1806+11G>A rs372517964 0.00029
NM_207122.2(EXT2):c.509C>T (p.Thr170Ile) rs113846849 0.00029
NM_207122.2(EXT2):c.1425A>G (p.Glu475=) rs533065326 0.00027
NM_207122.2(EXT2):c.843A>G (p.Leu281=) rs111320923 0.00027
NM_207122.2(EXT2):c.1645C>T (p.Leu549=) rs142565472 0.00025
NM_207122.2(EXT2):c.939+19C>G rs370017441 0.00025
NM_207122.2(EXT2):c.444C>T (p.Asn148=) rs145884580 0.00024
NM_207122.2(EXT2):c.1080-16T>G rs377582390 0.00023
NM_207122.2(EXT2):c.1519G>A (p.Val507Ile) rs567445428 0.00022
NM_207122.2(EXT2):c.1726G>A (p.Glu576Lys) rs373582542 0.00021
NM_207122.2(EXT2):c.2013G>A (p.Val671=) rs371019537 0.00020
NM_207122.2(EXT2):c.896G>A (p.Arg299His) rs76901081 0.00020
NM_207122.2(EXT2):c.*945G>A rs886048282 0.00019
NM_207122.2(EXT2):c.1554G>A (p.Lys518=) rs144238557 0.00018
NM_207122.2(EXT2):c.*838T>G rs991198189 0.00016
NM_207122.2(EXT2):c.2143A>G (p.Ile715Val) rs199564714 0.00014
NM_207122.2(EXT2):c.889C>T (p.Arg297Cys) rs146098187 0.00014
NM_207122.2(EXT2):c.*129C>G rs141864253 0.00011
NM_207122.2(EXT2):c.*139C>G rs191451519 0.00011
NM_207122.2(EXT2):c.*440A>G rs529075674 0.00011
NM_207122.2(EXT2):c.1407C>T (p.Leu469=) rs148753786 0.00011
NM_207122.2(EXT2):c.*731A>G rs886048281 0.00010
NM_207122.2(EXT2):c.1916C>T (p.Thr639Met) rs138722406 0.00010
NM_207122.2(EXT2):c.283C>T (p.Arg95Cys) rs376292686 0.00009
NM_207122.2(EXT2):c.1372G>A (p.Ala458Thr) rs146086025 0.00008
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln) rs140561784 0.00008
NM_207122.2(EXT2):c.744-6T>A rs755926713 0.00008
NM_207122.2(EXT2):c.-45G>T rs1276665372 0.00007
NM_207122.2(EXT2):c.605C>T (p.Ala202Val) rs771803942 0.00007
NM_207122.2(EXT2):c.*381T>C rs886048280 0.00006
NM_207122.2(EXT2):c.1249C>T (p.Arg417Trp) rs540229057 0.00006
NM_207122.2(EXT2):c.1412G>A (p.Arg471Gln) rs141256266 0.00006
NM_207122.2(EXT2):c.182G>A (p.Arg61His) rs151228794 0.00006
NM_207122.2(EXT2):c.201G>A (p.Pro67=) rs201374853 0.00006
NM_207122.2(EXT2):c.2053G>A (p.Gly685Arg) rs367897723 0.00006
NM_207122.2(EXT2):c.357C>T (p.Gly119=) rs753325648 0.00006
NM_207122.2(EXT2):c.919G>A (p.Asp307Asn) rs200631641 0.00006
NM_207122.2(EXT2):c.1185C>G (p.Phe395Leu) rs776907891 0.00005
NM_207122.2(EXT2):c.1341G>A (p.Pro447=) rs774039598 0.00005
NM_207122.2(EXT2):c.1487C>T (p.Pro496Leu) rs772530256 0.00005
NM_207122.2(EXT2):c.284G>A (p.Arg95His) rs143703574 0.00005
NM_207122.2(EXT2):c.445C>T (p.Arg149Trp) rs757297287 0.00005
NM_207122.2(EXT2):c.588C>T (p.Pro196=) rs200009614 0.00005
NM_207122.2(EXT2):c.698A>G (p.Tyr233Cys) rs146316660 0.00005
NM_207122.2(EXT2):c.749G>A (p.Arg250Gln) rs770821909 0.00005
NM_207122.2(EXT2):c.8C>T (p.Ala3Val) rs201185639 0.00005
NM_207122.1(EXT2):c.-307G>T rs569630494 0.00004
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp) rs145903120 0.00004
NM_207122.2(EXT2):c.1277A>G (p.Tyr426Cys) rs781283626 0.00004
NM_207122.2(EXT2):c.1495+9C>G rs768311130 0.00004
NM_207122.2(EXT2):c.1663-16A>G rs201032203 0.00004
NM_207122.2(EXT2):c.1704T>A (p.Gly568=) rs145878394 0.00004
NM_207122.2(EXT2):c.1806+10C>T rs200520590 0.00004
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter) rs765648513 0.00004
NM_207122.2(EXT2):c.382C>T (p.Arg128Trp) rs200613371 0.00004
NM_207122.2(EXT2):c.728C>G (p.Pro243Arg) rs200032672 0.00004
NM_207122.2(EXT2):c.849C>T (p.Leu283=) rs749093709 0.00004
NM_207122.2(EXT2):c.906G>C (p.Lys302Asn) rs549810739 0.00004
NM_207122.2(EXT2):c.940-18C>G rs375536301 0.00004
NM_207122.2(EXT2):c.94A>G (p.Ile32Val) rs769478020 0.00004
NM_207122.2(EXT2):c.973C>T (p.Arg325Trp) rs145611597 0.00004
NM_207122.2(EXT2):c.995G>A (p.Ser332Asn) rs148493676 0.00004
NM_207122.2(EXT2):c.996C>T (p.Ser332=) rs142692757 0.00004
NM_207122.2(EXT2):c.*339C>T rs759615273 0.00003
NM_207122.2(EXT2):c.1023G>A (p.Pro341=) rs757323768 0.00003
NM_207122.2(EXT2):c.1080-6C>T rs752180821 0.00003
NM_207122.2(EXT2):c.1194G>A (p.Ala398=) rs1011914306 0.00003
NM_207122.2(EXT2):c.1200C>A (p.Phe400Leu) rs773613001 0.00003
NM_207122.2(EXT2):c.1461C>T (p.Val487=) rs150758739 0.00003
NM_207122.2(EXT2):c.1532T>C (p.Val511Ala) rs1470381472 0.00003
NM_207122.2(EXT2):c.1564C>T (p.Arg522Cys) rs145507609 0.00003
NM_207122.2(EXT2):c.1681G>C (p.Asp561His) rs151291188 0.00003
NM_207122.2(EXT2):c.1935+11C>G rs764143899 0.00003
NM_207122.2(EXT2):c.2052C>T (p.Phe684=) rs746317053 0.00003
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln) rs771039412 0.00003
NM_207122.2(EXT2):c.425A>G (p.Tyr142Cys) rs762657738 0.00003
NM_207122.2(EXT2):c.699T>C (p.Tyr233=) rs1319747883 0.00003
NM_207122.2(EXT2):c.748C>T (p.Arg250Trp) rs183424469 0.00003
NM_207122.2(EXT2):c.-26G>T rs369437823 0.00002
NM_207122.2(EXT2):c.1043A>G (p.Tyr348Cys) rs758785296 0.00002
NM_207122.2(EXT2):c.1079+5G>A rs773025398 0.00002
NM_207122.2(EXT2):c.1109T>C (p.Met370Thr) rs199711832 0.00002
NM_207122.2(EXT2):c.11C>T (p.Ser4Leu) rs527624522 0.00002
NM_207122.2(EXT2):c.1306-7C>G rs771232346 0.00002
NM_207122.2(EXT2):c.1315A>G (p.Ser439Gly) rs760086935 0.00002
NM_207122.2(EXT2):c.1389C>T (p.Tyr463=) rs1166915261 0.00002
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter) rs772690312 0.00002
NM_207122.2(EXT2):c.1587C>T (p.Ile529=) rs765251957 0.00002
NM_207122.2(EXT2):c.1642G>A (p.Glu548Lys) rs1804679 0.00002
NM_207122.2(EXT2):c.1935G>A (p.Lys645=) rs752606551 0.00002
NM_207122.2(EXT2):c.2018+17C>T rs375554352 0.00002
NM_207122.2(EXT2):c.343G>A (p.Val115Met) rs1470293557 0.00002
NM_207122.2(EXT2):c.497G>A (p.Arg166His) rs772821141 0.00002
NM_207122.2(EXT2):c.743+10A>C rs762753229 0.00002
NM_207122.2(EXT2):c.832G>A (p.Glu278Lys) rs117329700 0.00002
NM_207122.2(EXT2):c.890G>A (p.Arg297His) rs773482624 0.00002
NM_207122.2(EXT2):c.93C>T (p.Ser31=) rs747830835 0.00002
NM_207122.2(EXT2):c.*3C>T rs542907948 0.00001
NM_207122.2(EXT2):c.*862T>G rs192098481 0.00001
NM_207122.2(EXT2):c.*93G>A rs886048278 0.00001
NM_207122.2(EXT2):c.-31+453A>G rs1032612888 0.00001
NM_207122.2(EXT2):c.1003T>C (p.Leu335=) rs766467969 0.00001
NM_207122.2(EXT2):c.1019T>A (p.Val340Asp) rs371996957 0.00001
NM_207122.2(EXT2):c.1123A>G (p.Ser375Gly) rs369029338 0.00001
NM_207122.2(EXT2):c.1126A>G (p.Ile376Val) rs1465688101 0.00001
NM_207122.2(EXT2):c.1173+18G>A rs760436963 0.00001
NM_207122.2(EXT2):c.1180T>G (p.Trp394Gly) rs769052712 0.00001
NM_207122.2(EXT2):c.1208T>C (p.Ile403Thr) rs530523884 0.00001
NM_207122.2(EXT2):c.1226C>T (p.Ala409Val) rs1279920600 0.00001
NM_207122.2(EXT2):c.1231C>T (p.Leu411=) rs914948841 0.00001
NM_207122.2(EXT2):c.1259C>T (p.Pro420Leu) rs747153343 0.00001
NM_207122.2(EXT2):c.1270A>G (p.Ile424Val) rs1473876438 0.00001
NM_207122.2(EXT2):c.1287G>T (p.Trp429Cys) rs1403873034 0.00001
NM_207122.2(EXT2):c.1305+12C>G rs767006996 0.00001
NM_207122.2(EXT2):c.1305+2T>C rs202153611 0.00001
NM_207122.2(EXT2):c.1319T>A (p.Val440Glu) rs1053473840 0.00001
NM_207122.2(EXT2):c.1354C>G (p.Gln452Glu) rs1955475218 0.00001
NM_207122.2(EXT2):c.1375A>G (p.Ile459Val) rs779292816 0.00001
NM_207122.2(EXT2):c.1409T>C (p.Phe470Ser) rs1360036719 0.00001
NM_207122.2(EXT2):c.1484A>G (p.Asn495Ser) rs1590640131 0.00001
NM_207122.2(EXT2):c.1515C>G (p.Ile505Met) rs145279140 0.00001
NM_207122.2(EXT2):c.1516C>T (p.Arg506Trp) rs750549318 0.00001
NM_207122.2(EXT2):c.1518G>T (p.Arg506=) rs747230848 0.00001
NM_207122.2(EXT2):c.151G>A (p.Glu51Lys) rs763384036 0.00001
NM_207122.2(EXT2):c.1575T>G (p.Pro525=) rs372914384 0.00001
NM_207122.2(EXT2):c.1610T>C (p.Ile537Thr) rs766600182 0.00001
NM_207122.2(EXT2):c.1712A>G (p.His571Arg) rs150392363 0.00001
NM_207122.2(EXT2):c.1824T>A (p.Tyr608Ter) rs781083252 0.00001
NM_207122.2(EXT2):c.1921A>C (p.Lys641Gln) rs773705067 0.00001
NM_207122.2(EXT2):c.1974A>G (p.Thr658=) rs1319948823 0.00001
NM_207122.2(EXT2):c.2041G>C (p.Ala681Pro) rs771936445 0.00001
NM_207122.2(EXT2):c.211C>T (p.Leu71=) rs766800368 0.00001
NM_207122.2(EXT2):c.2136C>T (p.Phe712=) rs575302404 0.00001
NM_207122.2(EXT2):c.219C>T (p.Ala73=) rs774620075 0.00001
NM_207122.2(EXT2):c.238C>T (p.Arg80Trp) rs755625888 0.00001
NM_207122.2(EXT2):c.246T>C (p.Asp82=) rs559280035 0.00001
NM_207122.2(EXT2):c.252T>C (p.Ser84=) rs1463030663 0.00001
NM_207122.2(EXT2):c.266C>T (p.Thr89Met) rs143048174 0.00001
NM_207122.2(EXT2):c.267G>A (p.Thr89=) rs1386417457 0.00001
NM_207122.2(EXT2):c.296A>T (p.Asn99Ile) rs147587178 0.00001
NM_207122.2(EXT2):c.408C>T (p.Ala136=) rs777178095 0.00001
NM_207122.2(EXT2):c.415G>A (p.Asp139Asn) rs1038984851 0.00001
NM_207122.2(EXT2):c.502A>G (p.Lys168Glu) rs762533540 0.00001
NM_207122.2(EXT2):c.511G>A (p.Ala171Thr) rs1326355711 0.00001
NM_207122.2(EXT2):c.537-19A>G rs764148237 0.00001
NM_207122.2(EXT2):c.636G>T (p.Leu212Phe) rs532468542 0.00001
NM_207122.2(EXT2):c.640G>A (p.Gly214Ser) rs550761834 0.00001
NM_207122.2(EXT2):c.646G>A (p.Gly216Ser) rs1208541215 0.00001
NM_207122.2(EXT2):c.656C>T (p.Thr219Met) rs202208526 0.00001
NM_207122.2(EXT2):c.667C>T (p.Arg223Trp) rs201062014 0.00001
NM_207122.2(EXT2):c.678C>T (p.Tyr226=) rs1406801697 0.00001
NM_207122.2(EXT2):c.67C>T (p.Arg23Ter) rs754533434 0.00001
NM_207122.2(EXT2):c.744-11T>A rs754484381 0.00001
NM_207122.2(EXT2):c.753A>G (p.Gln251=) rs1310756667 0.00001
NM_207122.2(EXT2):c.860C>A (p.Thr287Asn) rs886048275 0.00001
NM_207122.2(EXT2):c.863A>G (p.Asn288Ser) rs745738318 0.00001
NM_207122.2(EXT2):c.895C>T (p.Arg299Cys) rs375468766 0.00001
NM_207122.2(EXT2):c.936A>G (p.Leu312=) rs760218623 0.00001
NM_207122.2(EXT2):c.940-9T>C rs374555467 0.00001
NM_207122.2(EXT2):c.974G>A (p.Arg325Gln) rs762292898 0.00001
NM_207122.2(EXT2):c.997G>A (p.Asp333Asn) rs1182974716 0.00001
NM_207122.2(EXT2):c.9G>A (p.Ala3=) rs774142487 0.00001
NC_000011.10:g.(?_44096233)_(44130158_?)del
NC_000011.10:g.(?_44096233)_(44244388_?)del
NC_000011.10:g.(?_44107663)_(44108268_?)del
NC_000011.10:g.(?_44107663)_(44130158_?)del
NC_000011.10:g.(?_44124769)_(44126975_?)del
NC_000011.10:g.(?_44144227)_(44198038_?)del
NC_000011.10:g.(?_44171591)_(44171762_?)del
NC_000011.10:g.(?_44171591)_(44206979_?)del
NC_000011.10:g.(?_44206773)_(44206979_?)del
NC_000011.10:g.(?_44206793)_(44206959_?)del
NC_000011.10:g.44109194del
NC_000011.9:g.(?_44129235)_(44129808_?)del
NC_000011.9:g.(?_44129235)_(44151698_?)del
NC_000011.9:g.(?_44129263)_(44130853_?)del
NC_000011.9:g.(?_44135715)_(44135871_?)del
NC_000011.9:g.(?_44146456)_(44156975_?)del
NC_000011.9:g.(?_44193141)_(44193312_?)dup
NC_000011.9:g.(?_44219359)_(44228529_?)del
NM_207122.1(EXT2):c.-242G>T rs1953882206
NM_207122.1(EXT2):c.861_1173+5287del
NM_207122.2(EXT2):c.*368C>T rs886048279
NM_207122.2(EXT2):c.*672G>C rs1956079951
NM_207122.2(EXT2):c.*795C>A rs76505631
NM_207122.2(EXT2):c.*802A>G rs531942530
NM_207122.2(EXT2):c.*882G>T rs1956082516
NM_207122.2(EXT2):c.-197C>G rs78395259
NM_207122.2(EXT2):c.-61C>G rs12800404
NM_207122.2(EXT2):c.1002G>A (p.Val334=)
NM_207122.2(EXT2):c.1002_1004dup (p.Leu335_Gln336insLeu)
NM_207122.2(EXT2):c.1003_1004insA (p.Leu335fs) rs2135020617
NM_207122.2(EXT2):c.1006C>T (p.Gln336Ter) rs1954414269
NM_207122.2(EXT2):c.1008A>G (p.Gln336=)
NM_207122.2(EXT2):c.1013del (p.Gly338fs) rs2135020654
NM_207122.2(EXT2):c.1016G>A (p.Cys339Tyr) rs751598619
NM_207122.2(EXT2):c.1016G>C (p.Cys339Ser)
NM_207122.2(EXT2):c.1018G>A (p.Val340Ile)
NM_207122.2(EXT2):c.1022C>G (p.Pro341Arg) rs141035971
NM_207122.2(EXT2):c.1024del (p.Val342fs) rs1954415156
NM_207122.2(EXT2):c.1026T>C (p.Val342=)
NM_207122.2(EXT2):c.1032T>G (p.Ile344Met) rs1954415349
NM_207122.2(EXT2):c.1032del (p.Ile344fs) rs1590570953
NM_207122.2(EXT2):c.1040C>G (p.Ser347Cys)
NM_207122.2(EXT2):c.1042T>G (p.Tyr348Asp)
NM_207122.2(EXT2):c.1044T>A (p.Tyr348Ter)
NM_207122.2(EXT2):c.1044T>C (p.Tyr348=) rs2135020895
NM_207122.2(EXT2):c.1050G>T (p.Leu350Phe) rs747302075
NM_207122.2(EXT2):c.1051C>G (p.Pro351Ala)
NM_207122.2(EXT2):c.1052C>T (p.Pro351Leu) rs1954415964
NM_207122.2(EXT2):c.1056C>T (p.Phe352=)
NM_207122.2(EXT2):c.1066C>T (p.Leu356Phe)
NM_207122.2(EXT2):c.1072T>C (p.Trp358Arg)
NM_207122.2(EXT2):c.1072T>G (p.Trp358Gly) rs2135020999
NM_207122.2(EXT2):c.1074G>A (p.Trp358Ter) rs1450980907
NM_207122.2(EXT2):c.1079+13T>C
NM_207122.2(EXT2):c.1079+17A>G
NM_207122.2(EXT2):c.1079+1G>A rs1369420640
NM_207122.2(EXT2):c.1079+1G>C rs1369420640
NM_207122.2(EXT2):c.1079+1G>T rs1369420640
NM_207122.2(EXT2):c.1080-11G>A
NM_207122.2(EXT2):c.1080-14G>A
NM_207122.2(EXT2):c.1080-1G>A rs2135029007
NM_207122.2(EXT2):c.1080-1G>T rs2135029007
NM_207122.2(EXT2):c.1080-2A>G rs558968332
NM_207122.2(EXT2):c.1080-2del rs2135029005
NM_207122.2(EXT2):c.1083A>G (p.Ala361=)
NM_207122.2(EXT2):c.1085C>T (p.Ser362Phe)
NM_207122.2(EXT2):c.1091T>C (p.Val364Ala)
NM_207122.2(EXT2):c.1102G>T (p.Glu368Ter)
NM_207122.2(EXT2):c.1104_1108del (p.Glu368fs)
NM_207122.2(EXT2):c.1117G>A (p.Val373Met) rs750547674
NM_207122.2(EXT2):c.111C>T (p.Leu37=)
NM_207122.2(EXT2):c.1124_1125del (p.Ser375fs) rs1954470017
NM_207122.2(EXT2):c.1128T>C (p.Ile376=)
NM_207122.2(EXT2):c.1132C>T (p.Gln378Ter) rs1555006433
NM_207122.2(EXT2):c.1136G>A (p.Ser379Asn)
NM_207122.2(EXT2):c.1142C>G (p.Pro381Arg)
NM_207122.2(EXT2):c.1143C>T (p.Pro381=)
NM_207122.2(EXT2):c.1144C>T (p.Gln382Ter) rs1954470670
NM_207122.2(EXT2):c.1144del (p.Gln382fs)
NM_207122.2(EXT2):c.1145A>G (p.Gln382Arg)
NM_207122.2(EXT2):c.1149A>G (p.Arg383=)
NM_207122.2(EXT2):c.1150C>T (p.Gln384Ter) rs753083913
NM_207122.2(EXT2):c.1151A>G (p.Gln384Arg) rs1590575253
NM_207122.2(EXT2):c.1154T>C (p.Ile385Thr)
NM_207122.2(EXT2):c.1165C>G (p.Gln389Glu) rs1203844985
NM_207122.2(EXT2):c.1167G>A (p.Gln389=) rs2135029434
NM_207122.2(EXT2):c.1169_1170del (p.Arg390fs) rs1954471038
NM_207122.2(EXT2):c.1171C>A (p.Gln391Lys)
NM_207122.2(EXT2):c.1171C>T (p.Gln391Ter) rs570580540
NM_207122.2(EXT2):c.1172_1173dup (p.Ala392fs)
NM_207122.2(EXT2):c.1173+17T>A
NM_207122.2(EXT2):c.1173+1G>A
NM_207122.2(EXT2):c.1173+2T>A rs1565205890
NM_207122.2(EXT2):c.1173+8G>A
NM_207122.2(EXT2):c.1173+9C>T
NM_207122.2(EXT2):c.1174-14T>A
NM_207122.2(EXT2):c.1174-19A>G
NM_207122.2(EXT2):c.1174-2A>G
NM_207122.2(EXT2):c.1175C>A (p.Ala392Asp)
NM_207122.2(EXT2):c.1179del (p.Trp394fs) rs1955074882
NM_207122.2(EXT2):c.117C>T (p.Ala39=) rs2134965644
NM_207122.2(EXT2):c.1181G>A (p.Trp394Ter) rs1191238988
NM_207122.2(EXT2):c.1186_1192del (p.Trp396fs)
NM_207122.2(EXT2):c.1187G>A (p.Trp396Ter) rs750542485
NM_207122.2(EXT2):c.1187G>C (p.Trp396Ser)
NM_207122.2(EXT2):c.1189dup (p.Glu397fs) rs1590618771
NM_207122.2(EXT2):c.118dup (p.Thr40fs)
NM_207122.2(EXT2):c.1192G>A (p.Ala398Thr) rs2135127641
NM_207122.2(EXT2):c.1197C>G (p.Tyr399Ter)
NM_207122.2(EXT2):c.1201C>T (p.Gln401Ter)
NM_207122.2(EXT2):c.1201del (p.Gln401fs) rs2135127698
NM_207122.2(EXT2):c.1205C>A (p.Ser402Ter) rs1955075568
NM_207122.2(EXT2):c.1211A>T (p.Lys404Ile)
NM_207122.2(EXT2):c.1221C>G (p.Ala407=)
NM_207122.2(EXT2):c.1221C>T (p.Ala407=) rs1315721028
NM_207122.2(EXT2):c.1223T>A (p.Leu408Gln)
NM_207122.2(EXT2):c.1223T>C (p.Leu408Pro)
NM_207122.2(EXT2):c.1226C>G (p.Ala409Gly) rs1279920600
NM_207122.2(EXT2):c.1232_1234del (p.Leu411del)
NM_207122.2(EXT2):c.1233G>A (p.Leu411=)
NM_207122.2(EXT2):c.1234C>T (p.Gln412Ter) rs1448103584
NM_207122.2(EXT2):c.1244A>G (p.Asn415Ser)
NM_207122.2(EXT2):c.1245del (p.Asn415fs)
NM_207122.2(EXT2):c.1248C>G (p.Asp416Glu)
NM_207122.2(EXT2):c.1250G>A (p.Arg417Gln) rs753542290
NM_207122.2(EXT2):c.1257T>A (p.Tyr419Ter) rs1955076595
NM_207122.2(EXT2):c.1262A>G (p.Tyr421Cys)
NM_207122.2(EXT2):c.1262_1263dup (p.Ala422fs) rs1590618958
NM_207122.2(EXT2):c.1268C>T (p.Ala423Val)
NM_207122.2(EXT2):c.1285T>G (p.Trp429Gly)
NM_207122.2(EXT2):c.1286G>A (p.Trp429Ter) rs2135128105
NM_207122.2(EXT2):c.1287G>A (p.Trp429Ter) rs1403873034
NM_207122.2(EXT2):c.1291G>A (p.Asp431Asn) rs886048276
NM_207122.2(EXT2):c.1294C>T (p.Pro432Ser)
NM_207122.2(EXT2):c.1298C>G (p.Pro433Arg)
NM_207122.2(EXT2):c.129_130delinsGT (p.Phe43_Gln44delinsLeuTer) rs1954079044
NM_207122.2(EXT2):c.12G>A (p.Ser4=)
NM_207122.2(EXT2):c.1305+14A>G
NM_207122.2(EXT2):c.1305+1G>A rs864309637
NM_207122.2(EXT2):c.1306-13T>C rs749657208
NM_207122.2(EXT2):c.1306-14C>A
NM_207122.2(EXT2):c.1306-14C>T
NM_207122.2(EXT2):c.1306-8T>C
NM_207122.2(EXT2):c.1308G>A (p.Lys436=)
NM_207122.2(EXT2):c.1308G>T (p.Lys436Asn)
NM_207122.2(EXT2):c.1312G>T (p.Gly438Cys) rs775111831
NM_207122.2(EXT2):c.1328C>T (p.Pro443Leu)
NM_207122.2(EXT2):c.1330C>T (p.Leu444Phe)
NM_207122.2(EXT2):c.1335C>T (p.Phe445=)
NM_207122.2(EXT2):c.1338C>T (p.Leu446=) rs1955474586
NM_207122.2(EXT2):c.1340C>T (p.Pro447Leu)
NM_207122.2(EXT2):c.1342C>T (p.Leu448=)
NM_207122.2(EXT2):c.1344G>A (p.Leu448=)
NM_207122.2(EXT2):c.1350A>G (p.Pro450=)
NM_207122.2(EXT2):c.1353A>G (p.Pro451=)
NM_207122.2(EXT2):c.1363G>A (p.Gly455Arg)
NM_207122.2(EXT2):c.1370C>A (p.Thr457Asn)
NM_207122.2(EXT2):c.1371C>T (p.Thr457=)
NM_207122.2(EXT2):c.1376T>C (p.Ile459Thr)
NM_207122.2(EXT2):c.1390G>A (p.Asp464Asn)
NM_207122.2(EXT2):c.1392C>T (p.Asp464=)
NM_207122.2(EXT2):c.1394G>A (p.Arg465Gln)
NM_207122.2(EXT2):c.1397_1401del (p.Val466fs)
NM_207122.2(EXT2):c.140C>A (p.Pro47His)
NM_207122.2(EXT2):c.140C>T (p.Pro47Leu)
NM_207122.2(EXT2):c.1411C>T (p.Arg471Trp)
NM_207122.2(EXT2):c.1436T>A (p.Val479Glu)
NM_207122.2(EXT2):c.1438C>T (p.Pro480Ser)
NM_207122.2(EXT2):c.143A>T (p.His48Leu) rs1590547374
NM_207122.2(EXT2):c.1440C>T (p.Pro480=) rs2135185399
NM_207122.2(EXT2):c.1448C>T (p.Ser483Phe)
NM_207122.2(EXT2):c.1449C>T (p.Ser483=)
NM_207122.2(EXT2):c.1454T>C (p.Leu485Pro)
NM_207122.2(EXT2):c.1458T>A (p.Leu486=) rs1343630556
NM_207122.2(EXT2):c.1459GTC[1] (p.Val488del)
NM_207122.2(EXT2):c.1462G>A (p.Val488Ile)
NM_207122.2(EXT2):c.1462G>T (p.Val488Phe)
NM_207122.2(EXT2):c.1465T>C (p.Trp489Arg) rs2135185580
NM_207122.2(EXT2):c.1466G>C (p.Trp489Ser)
NM_207122.2(EXT2):c.147T>G (p.Ser49=)
NM_207122.2(EXT2):c.1484del (p.Asn495fs)
NM_207122.2(EXT2):c.1486C>G (p.Pro496Ala)
NM_207122.2(EXT2):c.1489_1495+12del
NM_207122.2(EXT2):c.148A>G (p.Ile50Val)
NM_207122.2(EXT2):c.1495+12T>C
NM_207122.2(EXT2):c.1495+7dup rs1376958816
NM_207122.2(EXT2):c.1495G>A (p.Asp499Asn) rs1314735230
NM_207122.2(EXT2):c.1496-17C>A rs1370105753
NM_207122.2(EXT2):c.1496-1G>C
NM_207122.2(EXT2):c.1496-7T>C
NM_207122.2(EXT2):c.1499C>G (p.Ser500Cys) rs1955587849
NM_207122.2(EXT2):c.1517G>A (p.Arg506Gln)
NM_207122.2(EXT2):c.1518G>A (p.Arg506=)
NM_207122.2(EXT2):c.1522C>T (p.Pro508Ser)
NM_207122.2(EXT2):c.1524A>G (p.Pro508=)
NM_207122.2(EXT2):c.1524A>T (p.Pro508=)
NM_207122.2(EXT2):c.1525T>C (p.Leu509=)
NM_207122.2(EXT2):c.1534del (p.Val511_Val512insTer)
NM_207122.2(EXT2):c.1538G>A (p.Arg513Lys)
NM_207122.2(EXT2):c.1543G>T (p.Ala515Ser)
NM_207122.2(EXT2):c.1565G>A (p.Arg522His) rs1271452312
NM_207122.2(EXT2):c.1574C>G (p.Pro525Arg)
NM_207122.2(EXT2):c.1575T>A (p.Pro525=) rs372914384
NM_207122.2(EXT2):c.1575T>C (p.Pro525=) rs372914384
NM_207122.2(EXT2):c.1577dup (p.Tyr526Ter) rs2135204843
NM_207122.2(EXT2):c.1582G>A (p.Glu528Lys)
NM_207122.2(EXT2):c.1591A>C (p.Thr531Pro)
NM_207122.2(EXT2):c.1600G>C (p.Val534Leu)
NM_207122.2(EXT2):c.1601T>A (p.Val534Asp) rs1955590072
NM_207122.2(EXT2):c.1608C>T (p.Ala536=)
NM_207122.2(EXT2):c.1626T>A (p.Ile542=)
NM_207122.2(EXT2):c.1627dup (p.Met543fs) rs1590647371
NM_207122.2(EXT2):c.1662+17_1662+18del
NM_207122.2(EXT2):c.1662+18A>G
NM_207122.2(EXT2):c.1662+1G>C
NM_207122.2(EXT2):c.1662+20T>C
NM_207122.2(EXT2):c.1662+4A>C
NM_207122.2(EXT2):c.1662G>C (p.Glu554Asp)
NM_207122.2(EXT2):c.1663-14G>A
NM_207122.2(EXT2):c.1663-1G>A
NM_207122.2(EXT2):c.1668G>A (p.Trp556Ter)
NM_207122.2(EXT2):c.1669C>A (p.Arg557=) rs768532662
NM_207122.2(EXT2):c.1669C>T (p.Arg557Trp) rs768532662
NM_207122.2(EXT2):c.1683C>T (p.Asp561=) rs1955909250
NM_207122.2(EXT2):c.1684C>G (p.Arg562Gly)
NM_207122.2(EXT2):c.1684C>T (p.Arg562Trp)
NM_207122.2(EXT2):c.168G>A (p.Trp56Ter)
NM_207122.2(EXT2):c.168G>T (p.Trp56Cys)
NM_207122.2(EXT2):c.1698C>A (p.Tyr566Ter)
NM_207122.2(EXT2):c.1700C>T (p.Pro567Leu)
NM_207122.2(EXT2):c.1701G>A (p.Pro567=)
NM_207122.2(EXT2):c.1708C>T (p.Leu570=)
NM_207122.2(EXT2):c.1712A>C (p.His571Pro)
NM_207122.2(EXT2):c.1716C>T (p.Leu572=)
NM_207122.2(EXT2):c.1719G>C (p.Trp573Cys)
NM_207122.2(EXT2):c.1724A>G (p.His575Arg)
NM_207122.2(EXT2):c.1731G>A (p.Met577Ile)
NM_207122.2(EXT2):c.1731dup (p.Asn578fs)
NM_207122.2(EXT2):c.1733del (p.Asn578fs)
NM_207122.2(EXT2):c.1740G>A (p.Trp580Ter) rs1564986609
NM_207122.2(EXT2):c.1740G>C (p.Trp580Cys) rs1564986609
NM_207122.2(EXT2):c.1743G>A (p.Lys581=) rs772721212
NM_207122.2(EXT2):c.1752T>G (p.Ser584=)
NM_207122.2(EXT2):c.1758G>A (p.Trp586Ter)
NM_207122.2(EXT2):c.1764T>C (p.Asn588=) rs2135259732
NM_207122.2(EXT2):c.1765G>A (p.Glu589Lys)
NM_207122.2(EXT2):c.176del (p.Glu59fs)
NM_207122.2(EXT2):c.1771T>C (p.Ser591Pro)
NM_207122.2(EXT2):c.1773C>T (p.Ser591=)
NM_207122.2(EXT2):c.1776G>A (p.Met592Ile)
NM_207122.2(EXT2):c.1777G>T (p.Val593Leu)
NM_207122.2(EXT2):c.1778del (p.Val593fs)
NM_207122.2(EXT2):c.1782C>T (p.Leu594=)
NM_207122.2(EXT2):c.1785_1803del (p.Gly596fs)
NM_207122.2(EXT2):c.1798T>C (p.Tyr600His)
NM_207122.2(EXT2):c.1799A>G (p.Tyr600Cys)
NM_207122.2(EXT2):c.1802A>C (p.His601Pro)
NM_207122.2(EXT2):c.1802A>G (p.His601Arg) rs1590666587
NM_207122.2(EXT2):c.1802_1803delinsCT (p.His601Pro) rs2135259942
NM_207122.2(EXT2):c.1803C>T (p.His601=) rs1590666591
NM_207122.2(EXT2):c.1806+13A>G
NM_207122.2(EXT2):c.1806+16C>A
NM_207122.2(EXT2):c.1806+3A>C
NM_207122.2(EXT2):c.1806+5G>C
NM_207122.2(EXT2):c.1806+9G>T rs2135260004
NM_207122.2(EXT2):c.1806+9del rs372901342
NM_207122.2(EXT2):c.1807-2A>G
NM_207122.2(EXT2):c.1809T>G (p.Tyr603Ter)
NM_207122.2(EXT2):c.180G>A (p.Lys60=)
NM_207122.2(EXT2):c.1812del (p.Phe604fs)
NM_207122.2(EXT2):c.181C>T (p.Arg61Cys)
NM_207122.2(EXT2):c.1823A>G (p.Tyr608Cys) rs1590667793
NM_207122.2(EXT2):c.1825A>G (p.Thr609Ala)
NM_207122.2(EXT2):c.1826C>A (p.Thr609Asn)
NM_207122.2(EXT2):c.182G>T (p.Arg61Leu)
NM_207122.2(EXT2):c.1835T>C (p.Met612Thr)
NM_207122.2(EXT2):c.1853A>G (p.Asn618Ser)
NM_207122.2(EXT2):c.1854C>G (p.Asn618Lys)
NM_207122.2(EXT2):c.1855T>C (p.Trp619Arg)
NM_207122.2(EXT2):c.1860A>G (p.Val620=)
NM_207122.2(EXT2):c.1863T>C (p.Asp621=)
NM_207122.2(EXT2):c.1876T>C (p.Cys626Arg) rs2135263090
NM_207122.2(EXT2):c.1877G>A (p.Cys626Tyr)
NM_207122.2(EXT2):c.1888G>C (p.Ala630Pro)
NM_207122.2(EXT2):c.1892T>C (p.Met631Thr)
NM_207122.2(EXT2):c.1894A>G (p.Asn632Asp) rs1334534184
NM_207122.2(EXT2):c.1898_1899delinsCT (p.Phe633Ser)
NM_207122.2(EXT2):c.18G>A (p.Lys6=) rs375300731
NM_207122.2(EXT2):c.1900C>T (p.Leu634=) rs1955932950
NM_207122.2(EXT2):c.190C>T (p.Arg64Cys)
NM_207122.2(EXT2):c.1910A>G (p.Asn637Ser)
NM_207122.2(EXT2):c.1911C>T (p.Asn637=)
NM_207122.2(EXT2):c.1917G>A (p.Thr639=)
NM_207122.2(EXT2):c.191G>A (p.Arg64His)
NM_207122.2(EXT2):c.1924G>A (p.Ala642Thr)
NM_207122.2(EXT2):c.192T>C (p.Arg64=) rs2134966282
NM_207122.2(EXT2):c.1930del (p.Ile644fs)
NM_207122.2(EXT2):c.1935+19C>T
NM_207122.2(EXT2):c.1935+1G>T
NM_207122.2(EXT2):c.1935+3A>C
NM_207122.2(EXT2):c.1936-10C>T
NM_207122.2(EXT2):c.1936-12C>T
NM_207122.2(EXT2):c.1936-14T>C rs2135267767
NM_207122.2(EXT2):c.1936-20T>A
NM_207122.2(EXT2):c.1941C>A (p.Thr647=)
NM_207122.2(EXT2):c.1958A>G (p.Lys653Arg)
NM_207122.2(EXT2):c.1959G>A (p.Lys653=)
NM_207122.2(EXT2):c.1977_1987del (p.Ile660fs)
NM_207122.2(EXT2):c.1985G>C (p.Gly662Ala)
NM_207122.2(EXT2):c.1985G>T (p.Gly662Val)
NM_207122.2(EXT2):c.198G>C (p.Val66=) rs775542605
NM_207122.2(EXT2):c.2000A>G (p.Gln667Arg)
NM_207122.2(EXT2):c.200C>T (p.Pro67Leu)
NM_207122.2(EXT2):c.2018+17C>A
NM_207122.2(EXT2):c.2019-2A>G
NM_207122.2(EXT2):c.2019-2del
NM_207122.2(EXT2):c.2028C>T (p.Cys676=)
NM_207122.2(EXT2):c.2031CAA[1] (p.Asn678del) rs753223281
NM_207122.2(EXT2):c.203_258del (p.Val68fs) rs1954081053
NM_207122.2(EXT2):c.2046A>G (p.Ser682=)
NM_207122.2(EXT2):c.2050T>C (p.Phe684Leu) rs1956070950
NM_207122.2(EXT2):c.2054G>C (p.Gly685Ala) rs1389539812
NM_207122.2(EXT2):c.205G>A (p.Val69Ile) rs200809171
NM_207122.2(EXT2):c.2063C>T (p.Pro688Leu)
NM_207122.2(EXT2):c.2072T>A (p.Val691Glu)
NM_207122.2(EXT2):c.2083C>T (p.Arg695Ter)
NM_207122.2(EXT2):c.20A>G (p.Tyr7Cys)
NM_207122.2(EXT2):c.2100G>A (p.Leu700=)
NM_207122.2(EXT2):c.2103C>T (p.Tyr701=)
NM_207122.2(EXT2):c.210G>A (p.Arg70=)
NM_207122.2(EXT2):c.211del (p.Leu71fs) rs1954081372
NM_207122.2(EXT2):c.2120A>G (p.Glu707Gly) rs769426160
NM_207122.2(EXT2):c.2126T>A (p.Leu709Gln)
NM_207122.2(EXT2):c.2130G>A (p.Lys710=) rs2135284224
NM_207122.2(EXT2):c.2132G>C (p.Ser711Thr)
NM_207122.2(EXT2):c.2133C>G (p.Ser711Arg)
NM_207122.2(EXT2):c.218C>T (p.Ala73Val)
NM_207122.2(EXT2):c.220G>A (p.Asp74Asn)
NM_207122.2(EXT2):c.226C>A (p.Pro76Thr) rs999897934
NM_207122.2(EXT2):c.22A>G (p.Asn8Asp)
NM_207122.2(EXT2):c.236A>G (p.Glu79Gly)
NM_207122.2(EXT2):c.238del (p.Arg80fs) rs1565196333
NM_207122.2(EXT2):c.239G>A (p.Arg80Gln) rs763536229
NM_207122.2(EXT2):c.244del (p.Asp82fs) rs1555002457
NM_207122.2(EXT2):c.244dup (p.Asp82fs) rs1555002457
NM_207122.2(EXT2):c.245A>C (p.Asp82Ala) rs534539796
NM_207122.2(EXT2):c.245del (p.Asp82fs)
NM_207122.2(EXT2):c.245dup (p.Asp82fs) rs1555002460
NM_207122.2(EXT2):c.248_249del (p.Leu83fs)
NM_207122.2(EXT2):c.257_263del (p.Arg86fs) rs1954082764
NM_207122.2(EXT2):c.261G>A (p.Met87Ile) rs758194845
NM_207122.2(EXT2):c.264_275delinsAC (p.His88fs)
NM_207122.2(EXT2):c.265A>G (p.Thr89Ala)
NM_207122.2(EXT2):c.275A>G (p.Asp92Gly)
NM_207122.2(EXT2):c.278T>C (p.Val93Ala)
NM_207122.2(EXT2):c.281A>G (p.Tyr94Cys)
NM_207122.2(EXT2):c.282T>A (p.Tyr94Ter) rs2134967046
NM_207122.2(EXT2):c.28C>A (p.Arg10=) rs4755228
NM_207122.2(EXT2):c.28C>T (p.Arg10Trp)
NM_207122.2(EXT2):c.292T>C (p.Phe98Leu)
NM_207122.2(EXT2):c.29G>A (p.Arg10Gln)
NM_207122.2(EXT2):c.303G>T (p.Lys101Asn)
NM_207122.2(EXT2):c.306C>T (p.Asn102=) rs2134967175
NM_207122.2(EXT2):c.307A>G (p.Lys103Glu) rs907886635
NM_207122.2(EXT2):c.308A>C (p.Lys103Thr) rs1321100355
NM_207122.2(EXT2):c.314del (p.Lys105fs) rs1954084273
NM_207122.2(EXT2):c.315G>A (p.Lys105=)
NM_207122.2(EXT2):c.315_316dup (p.Val106fs)
NM_207122.2(EXT2):c.316del (p.Val106fs)
NM_207122.2(EXT2):c.31G>A (p.Gly11Ser) rs886048274
NM_207122.2(EXT2):c.320A>G (p.Tyr107Cys)
NM_207122.2(EXT2):c.321T>A (p.Tyr107Ter) rs767802942
NM_207122.2(EXT2):c.321T>C (p.Tyr107=)
NM_207122.2(EXT2):c.335A>C (p.Lys112Thr)
NM_207122.2(EXT2):c.335A>G (p.Lys112Arg)
NM_207122.2(EXT2):c.33T>C (p.Gly11=)
NM_207122.2(EXT2):c.342C>T (p.Tyr114=)
NM_207122.2(EXT2):c.362_363del (p.Ser121fs) rs1565196489
NM_207122.2(EXT2):c.371A>G (p.Asn124Ser)
NM_207122.2(EXT2):c.374C>G (p.Thr125Ser)
NM_207122.2(EXT2):c.376A>G (p.Ile126Val)
NM_207122.2(EXT2):c.377T>G (p.Ile126Ser) rs2134967559
NM_207122.2(EXT2):c.37G>A (p.Ala13Thr) rs1389288265
NM_207122.2(EXT2):c.383_390del (p.Arg128fs)
NM_207122.2(EXT2):c.393T>C (p.Asn131=)
NM_207122.2(EXT2):c.394G>C (p.Glu132Gln) rs1954086080
NM_207122.2(EXT2):c.394G>T (p.Glu132Ter) rs1954086080
NM_207122.2(EXT2):c.398T>G (p.Leu133Arg)
NM_207122.2(EXT2):c.398_401dup (p.Met135fs) rs886041272
NM_207122.2(EXT2):c.398_402del (p.Leu133fs) rs2134967717
NM_207122.2(EXT2):c.410T>C (p.Ile137Thr)
NM_207122.2(EXT2):c.413C>G (p.Ser138Ter)
NM_207122.2(EXT2):c.417C>A (p.Asp139Glu)
NM_207122.2(EXT2):c.417C>T (p.Asp139=)
NM_207122.2(EXT2):c.422A>T (p.Asp141Val)
NM_207122.2(EXT2):c.423C>T (p.Asp141=) rs199916419
NM_207122.2(EXT2):c.426C>G (p.Tyr142Ter) rs569199683
NM_207122.2(EXT2):c.429C>A (p.Tyr143Ter) rs1555002543
NM_207122.2(EXT2):c.430A>G (p.Thr144Ala)
NM_207122.2(EXT2):c.431C>T (p.Thr144Ile)
NM_207122.2(EXT2):c.443A>G (p.Asn148Ser)
NM_207122.2(EXT2):c.446G>A (p.Arg149Gln)
NM_207122.2(EXT2):c.454_457del (p.Val154fs) rs864309636
NM_207122.2(EXT2):c.456G>C (p.Leu152=)
NM_207122.2(EXT2):c.459_462del (p.Val154fs) rs1954088614
NM_207122.2(EXT2):c.469A>C (p.Ile157Leu)
NM_207122.2(EXT2):c.471C>A (p.Ile157=) rs747429885
NM_207122.2(EXT2):c.471_474del (p.Ile157fs)
NM_207122.2(EXT2):c.472G>A (p.Asp158Asn)
NM_207122.2(EXT2):c.473A>G (p.Asp158Gly) rs1954089321
NM_207122.2(EXT2):c.474T>A (p.Asp158Glu)
NM_207122.2(EXT2):c.477_478insATTAACCAGAACACACTGCG (p.Leu160fs)
NM_207122.2(EXT2):c.481_482dup (p.Asn161fs) rs1590548336
NM_207122.2(EXT2):c.482del (p.Asn161fs) rs1590548336
NM_207122.2(EXT2):c.487A>T (p.Asn163Tyr) rs1954089713
NM_207122.2(EXT2):c.491C>T (p.Thr164Ile)
NM_207122.2(EXT2):c.495G>A (p.Leu165=)
NM_207122.2(EXT2):c.496C>T (p.Arg166Cys)
NM_207122.2(EXT2):c.50G>A (p.Arg17Lys) rs1240693088
NM_207122.2(EXT2):c.512C>A (p.Ala171Glu)
NM_207122.2(EXT2):c.514C>T (p.Gln172Ter) rs121918279
NM_207122.2(EXT2):c.516A>G (p.Gln172=)
NM_207122.2(EXT2):c.516del (p.Ala173fs) rs2134968744
NM_207122.2(EXT2):c.518C>T (p.Ala173Val)
NM_207122.2(EXT2):c.519G>A (p.Ala173=)
NM_207122.2(EXT2):c.519G>C (p.Ala173=) rs148121594
NM_207122.2(EXT2):c.520A>C (p.Met174Leu) rs111589746
NM_207122.2(EXT2):c.520A>T (p.Met174Leu) rs111589746
NM_207122.2(EXT2):c.521T>A (p.Met174Lys)
NM_207122.2(EXT2):c.528_529delinsAA (p.Leu177Ile)
NM_207122.2(EXT2):c.534T>C (p.Ser178=)
NM_207122.2(EXT2):c.535del (p.Arg179fs)
NM_207122.2(EXT2):c.536+10A>T rs748432706
NM_207122.2(EXT2):c.536+14A>G
NM_207122.2(EXT2):c.536+15T>A
NM_207122.2(EXT2):c.536+17C>A
NM_207122.2(EXT2):c.536+19G>C
NM_207122.2(EXT2):c.536+1G>A rs1954091762
NM_207122.2(EXT2):c.536+1G>C rs1954091762
NM_207122.2(EXT2):c.536+1G>T
NM_207122.2(EXT2):c.536+20C>G
NM_207122.2(EXT2):c.536+7C>G rs755324495
NM_207122.2(EXT2):c.537-1G>C
NM_207122.2(EXT2):c.537-4_561del rs2134971478
NM_207122.2(EXT2):c.537G>A (p.Arg179=)
NM_207122.2(EXT2):c.539G>A (p.Trp180Ter) rs886039565
NM_207122.2(EXT2):c.540G>A (p.Trp180Ter) rs2134971524
NM_207122.2(EXT2):c.544C>T (p.Arg182Ter) rs886039358
NM_207122.2(EXT2):c.545G>A (p.Arg182Gln) rs563383543
NM_207122.2(EXT2):c.545G>T (p.Arg182Leu) rs563383543
NM_207122.2(EXT2):c.552G>A (p.Thr184=)
NM_207122.2(EXT2):c.553_558del (p.Asn185_His186del) rs761364688
NM_207122.2(EXT2):c.561G>C (p.Leu187=)
NM_207122.2(EXT2):c.561GTT[1] (p.Leu188del) rs1954106603
NM_207122.2(EXT2):c.566T>C (p.Phe189Ser)
NM_207122.2(EXT2):c.570C>T (p.Asn190=)
NM_207122.2(EXT2):c.571A>G (p.Met191Val) rs1324170921
NM_207122.2(EXT2):c.571A>T (p.Met191Leu)
NM_207122.2(EXT2):c.572T>C (p.Met191Thr)
NM_207122.2(EXT2):c.587C>T (p.Pro196Leu)
NM_207122.2(EXT2):c.590del (p.Pro197fs) rs1565197245
NM_207122.2(EXT2):c.593A>C (p.Asp198Ala)
NM_207122.2(EXT2):c.599A>G (p.Asn200Ser) rs1954107822
NM_207122.2(EXT2):c.602_603del (p.Thr201fs) rs1954107890
NM_207122.2(EXT2):c.610del (p.Asp204fs)
NM_207122.2(EXT2):c.618C>A (p.Pro206=)
NM_207122.2(EXT2):c.61A>G (p.Lys21Glu) rs2134965342
NM_207122.2(EXT2):c.620_626+158del rs2134971964
NM_207122.2(EXT2):c.626+14T>C
NM_207122.2(EXT2):c.626+15T>C
NM_207122.2(EXT2):c.626+19G>A rs370903897
NM_207122.2(EXT2):c.626+1G>A rs1057521132
NM_207122.2(EXT2):c.626+1G>T rs1057521132
NM_207122.2(EXT2):c.626+20C>T
NM_207122.2(EXT2):c.626+2T>G rs1954108778
NM_207122.2(EXT2):c.626+2_626+5del rs1954108641
NM_207122.2(EXT2):c.626+6A>T
NM_207122.2(EXT2):c.626+6_626+8del
NM_207122.2(EXT2):c.626+7G>A
NM_207122.2(EXT2):c.626G>A (p.Arg209Lys)
NM_207122.2(EXT2):c.627-18A>G
NM_207122.2(EXT2):c.627-1G>A
NM_207122.2(EXT2):c.627-2A>G rs1064793854
NM_207122.2(EXT2):c.640G>T (p.Gly214Cys)
NM_207122.2(EXT2):c.64_68del (p.His22fs) rs2134965356
NM_207122.2(EXT2):c.657G>A (p.Thr219=)
NM_207122.2(EXT2):c.658T>C (p.Trp220Arg)
NM_207122.2(EXT2):c.659G>A (p.Trp220Ter)
NM_207122.2(EXT2):c.65A>G (p.His22Arg) rs1954077075
NM_207122.2(EXT2):c.665A>G (p.Tyr222Cys)
NM_207122.2(EXT2):c.666C>A (p.Tyr222Ter)
NM_207122.2(EXT2):c.666C>G (p.Tyr222Ter) rs121918281
NM_207122.2(EXT2):c.668G>A (p.Arg223Gln)
NM_207122.2(EXT2):c.668G>C (p.Arg223Pro) rs764379119
NM_207122.2(EXT2):c.669G>A (p.Arg223=) rs141410374
NM_207122.2(EXT2):c.670C>T (p.Gln224Ter) rs1565199251
NM_207122.2(EXT2):c.675C>A (p.Gly225=)
NM_207122.2(EXT2):c.678C>A (p.Tyr226Ter)
NM_207122.2(EXT2):c.679G>A (p.Asp227Asn) rs121918280
NM_207122.2(EXT2):c.679G>T (p.Asp227Tyr)
NM_207122.2(EXT2):c.680A>G (p.Asp227Gly) rs2134984829
NM_207122.2(EXT2):c.680A>T (p.Asp227Val) rs2134984829
NM_207122.2(EXT2):c.682G>A (p.Val228Ile)
NM_207122.2(EXT2):c.687C>T (p.Ser229=) rs2134984902
NM_207122.2(EXT2):c.68G>A (p.Arg23Gln)
NM_207122.2(EXT2):c.695T>G (p.Val232Gly)
NM_207122.2(EXT2):c.699T>G (p.Tyr233Ter) rs1319747883
NM_207122.2(EXT2):c.69A>T (p.Arg23=) rs2134965405
NM_207122.2(EXT2):c.701G>T (p.Ser234Ile)
NM_207122.2(EXT2):c.704C>T (p.Pro235Leu)
NM_207122.2(EXT2):c.705A>G (p.Pro235=)
NM_207122.2(EXT2):c.705A>T (p.Pro235=)
NM_207122.2(EXT2):c.705_706del (p.Leu236fs) rs2134985142
NM_207122.2(EXT2):c.717G>A (p.Glu239=)
NM_207122.2(EXT2):c.720G>A (p.Val240=)
NM_207122.2(EXT2):c.724C>T (p.Leu242Phe)
NM_207122.2(EXT2):c.728del (p.Pro243fs) rs2134985434
NM_207122.2(EXT2):c.729del (p.Glu244fs) rs2134985455
NM_207122.2(EXT2):c.735del (p.Gly246fs)
NM_207122.2(EXT2):c.739C>G (p.Pro247Ala)
NM_207122.2(EXT2):c.740C>A (p.Pro247Gln) rs372237191
NM_207122.2(EXT2):c.740C>G (p.Pro247Arg) rs372237191
NM_207122.2(EXT2):c.743+1G>A rs886039567
NM_207122.2(EXT2):c.743+1_743+2dup rs1590555709
NM_207122.2(EXT2):c.744-10dup
NM_207122.2(EXT2):c.744-12T>C
NM_207122.2(EXT2):c.744-16T>G
NM_207122.2(EXT2):c.744-1G>A rs1954372994
NM_207122.2(EXT2):c.744-20C>T rs2135014483
NM_207122.2(EXT2):c.744-2A>C rs864309638
NM_207122.2(EXT2):c.744-2A>G
NM_207122.2(EXT2):c.744-8C>T
NM_207122.2(EXT2):c.750del (p.Gln251fs) rs2135014654
NM_207122.2(EXT2):c.755A>G (p.Tyr252Cys)
NM_207122.2(EXT2):c.756C>A (p.Tyr252Ter) rs1954373394
NM_207122.2(EXT2):c.756C>G (p.Tyr252Ter)
NM_207122.2(EXT2):c.757T>C (p.Phe253Leu)
NM_207122.2(EXT2):c.758T>A (p.Phe253Tyr)
NM_207122.2(EXT2):c.760C>T (p.Leu254Phe)
NM_207122.2(EXT2):c.761T>A (p.Leu254His)
NM_207122.2(EXT2):c.772C>T (p.Gln258Ter) rs267606786
NM_207122.2(EXT2):c.773A>G (p.Gln258Arg) rs2135014787
NM_207122.2(EXT2):c.779G>T (p.Gly260Val) rs201895861
NM_207122.2(EXT2):c.779del (p.Gly260fs) rs1410604006
NM_207122.2(EXT2):c.782_783del (p.Leu261fs) rs1954374127
NM_207122.2(EXT2):c.783_784del (p.His262fs) rs2135014852
NM_207122.2(EXT2):c.785A>G (p.His262Arg) rs2135014871
NM_207122.2(EXT2):c.785dup (p.His262fs) rs1555005328
NM_207122.2(EXT2):c.798A>G (p.Arg266=)
NM_207122.2(EXT2):c.805C>T (p.Leu269=) rs773486418
NM_207122.2(EXT2):c.814C>T (p.Leu272Phe)
NM_207122.2(EXT2):c.817C>T (p.Gln273Ter) rs1954375189
NM_207122.2(EXT2):c.82_143del (p.Thr28fs)
NM_207122.2(EXT2):c.830G>C (p.Gly277Ala)
NM_207122.2(EXT2):c.832G>T (p.Glu278Ter)
NM_207122.2(EXT2):c.835_839dup (p.Leu281fs)
NM_207122.2(EXT2):c.839T>A (p.Val280Glu)
NM_207122.2(EXT2):c.844G>A (p.Val282Ile)
NM_207122.2(EXT2):c.84C>A (p.Thr28=)
NM_207122.2(EXT2):c.84C>T (p.Thr28=) rs1954077511
NM_207122.2(EXT2):c.850G>A (p.Asp284Asn)
NM_207122.2(EXT2):c.856T>C (p.Cys286Arg)
NM_207122.2(EXT2):c.857G>A (p.Cys286Tyr)
NM_207122.2(EXT2):c.859del (p.Thr287fs)
NM_207122.2(EXT2):c.865dup (p.Leu289fs)
NM_207122.2(EXT2):c.869C>A (p.Ser290Ter)
NM_207122.2(EXT2):c.870del (p.Glu291fs)
NM_207122.2(EXT2):c.871G>T (p.Glu291Ter)
NM_207122.2(EXT2):c.87_88del (p.Phe30fs) rs886039744
NM_207122.2(EXT2):c.886G>C (p.Val296Leu) rs1954377301
NM_207122.2(EXT2):c.887T>A (p.Val296Asp)
NM_207122.2(EXT2):c.899_910dup (p.His303_Gln304insArgHisLysHis)
NM_207122.2(EXT2):c.89del (p.Phe30fs) rs2134965481
NM_207122.2(EXT2):c.906_907dup (p.His303fs) rs886041199
NM_207122.2(EXT2):c.909_910insGATGTCAGCATTCCTGTCTATAATCC (p.Gln304fs) rs2135015566
NM_207122.2(EXT2):c.913G>C (p.Val305Leu)
NM_207122.2(EXT2):c.913del (p.Val305fs) rs1954378294
NM_207122.2(EXT2):c.919G>C (p.Asp307His)
NM_207122.2(EXT2):c.920A>G (p.Asp307Gly) rs1260423517
NM_207122.2(EXT2):c.928C>T (p.Gln310Ter) rs1555005398
NM_207122.2(EXT2):c.929A>T (p.Gln310Leu)
NM_207122.2(EXT2):c.931G>A (p.Val311Met) rs1449762239
NM_207122.2(EXT2):c.933G>A (p.Val311=)
NM_207122.2(EXT2):c.937C>G (p.Gln313Glu) rs763718818
NM_207122.2(EXT2):c.937C>T (p.Gln313Ter) rs763718818
NM_207122.2(EXT2):c.939+11T>C
NM_207122.2(EXT2):c.939+14A>C
NM_207122.2(EXT2):c.939+1G>T
NM_207122.2(EXT2):c.939+1del rs2135015765
NM_207122.2(EXT2):c.940-13del rs765515424
NM_207122.2(EXT2):c.940-14T>G
NM_207122.2(EXT2):c.940-15T>C
NM_207122.2(EXT2):c.940-2A>G rs1954411419
NM_207122.2(EXT2):c.942G>A (p.Glu314=)
NM_207122.2(EXT2):c.946A>G (p.Thr316Ala)
NM_207122.2(EXT2):c.951C>T (p.Phe317=) rs2135020214
NM_207122.2(EXT2):c.952T>C (p.Cys318Arg) rs2135020224
NM_207122.2(EXT2):c.952_964del (p.Cys318fs) rs1954411719
NM_207122.2(EXT2):c.953G>A (p.Cys318Tyr)
NM_207122.2(EXT2):c.955G>A (p.Val319Met)
NM_207122.2(EXT2):c.956T>C (p.Val319Ala)
NM_207122.2(EXT2):c.956_957del (p.Val319fs) rs1590570665
NM_207122.2(EXT2):c.960del (p.Leu321fs) rs1954412043
NM_207122.2(EXT2):c.964C>T (p.Arg322Cys)
NM_207122.2(EXT2):c.969A>G (p.Gly323=)
NM_207122.2(EXT2):c.971C>T (p.Ala324Val)
NM_207122.2(EXT2):c.979G>A (p.Gly327Ser)
NM_207122.2(EXT2):c.979G>C (p.Gly327Arg) rs200427972
NM_207122.2(EXT2):c.988G>A (p.Val330Ile)
NM_207122.2(EXT2):c.98T>A (p.Val33Asp)
NM_207122.2(EXT2):c.999_1000inv (p.Val334Met)

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