ClinVar Miner

List of variants studied for Bloom syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 681
Download table as spreadsheet
HGVS dbSNP
NC_000015.9:g.(?_91290613)_(91295186_?)del
NC_000015.9:g.(?_91290613)_(91298178_?)dup
NC_000015.9:g.(?_91290613)_(91308654_?)del
NC_000015.9:g.(?_91290617)_(91358515_?)dup
NC_000015.9:g.(?_91298035)_(91298174_?)del
NC_000015.9:g.(?_91310134)_(91310259_?)del
NC_000015.9:g.(?_91333873)_(91334080_?)del
NC_000015.9:g.(?_91337387)_(91341577_?)del
NC_000015.9:g.(?_91354425)_(91354646_?)del
NM_000057.3(BLM):c.2407-7delC rs769184675
NM_000057.3(BLM):c.3358+7_3358+13delCATCTGT rs1555423799
NM_000057.3(BLM):c.99-9_99-7delATT rs1229333064
NM_000057.4(BLM):c.1006A>G (p.Ser336Gly) rs1567037959
NM_000057.4(BLM):c.1015A>G (p.Lys339Glu)
NM_000057.4(BLM):c.1018G>A (p.Asp340Asn)
NM_000057.4(BLM):c.1018G>C (p.Asp340His)
NM_000057.4(BLM):c.1027T>G (p.Ser343Ala) rs776620199
NM_000057.4(BLM):c.1032A>T (p.Lys344Asn)
NM_000057.4(BLM):c.1044G>A (p.Met348Ile) rs184657475
NM_000057.4(BLM):c.1044G>T (p.Met348Ile)
NM_000057.4(BLM):c.1054G>A (p.Glu352Lys)
NM_000057.4(BLM):c.1064C>G (p.Pro355Arg) rs1022898915
NM_000057.4(BLM):c.1064C>T (p.Pro355Leu)
NM_000057.4(BLM):c.1086C>T (p.Asp362=) rs375632163
NM_000057.4(BLM):c.1087+1G>A rs1179486581
NM_000057.4(BLM):c.1087G>A (p.Ala363Thr) rs200364297
NM_000057.4(BLM):c.1088-5del
NM_000057.4(BLM):c.1088-8T>G
NM_000057.4(BLM):c.1088C>T (p.Ala363Val) rs1567040460
NM_000057.4(BLM):c.1091G>A (p.Arg364Lys) rs1374291628
NM_000057.4(BLM):c.1096A>C (p.Ile366Leu) rs552913880
NM_000057.4(BLM):c.1097T>C (p.Ile366Thr) rs571152089
NM_000057.4(BLM):c.1118T>A (p.Ile373Asn) rs1060500630
NM_000057.4(BLM):c.1121A>G (p.His374Arg) rs776225502
NM_000057.4(BLM):c.1122T>C (p.His374=) rs28385009
NM_000057.4(BLM):c.1129del (p.Glu377fs) rs1555419710
NM_000057.4(BLM):c.1132_1134delinsTAT (p.His378Tyr) rs1555419713
NM_000057.4(BLM):c.114A>G (p.Lys38=) rs770017301
NM_000057.4(BLM):c.1156A>G (p.Ile386Val)
NM_000057.4(BLM):c.1166A>G (p.Asp389Gly) rs1555419732
NM_000057.4(BLM):c.1191G>C (p.Gly397=) rs780393464
NM_000057.4(BLM):c.1194C>T (p.Asn398=) rs202103556
NM_000057.4(BLM):c.1195G>A (p.Glu399Lys) rs538728271
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.4(BLM):c.1201C>T (p.Leu401Phe) rs151150267
NM_000057.4(BLM):c.1210C>T (p.Arg404Trp) rs770721765
NM_000057.4(BLM):c.1211G>A (p.Arg404Gln) rs776516663
NM_000057.4(BLM):c.1216A>G (p.Ile406Val)
NM_000057.4(BLM):c.1220+5C>G
NM_000057.4(BLM):c.1220G>C (p.Arg407Thr)
NM_000057.4(BLM):c.1221-6C>G rs1555419778
NM_000057.4(BLM):c.1221A>C (p.Arg407Ser)
NM_000057.4(BLM):c.1223G>A (p.Arg408Lys) rs1338335954
NM_000057.4(BLM):c.1228C>T (p.Leu410Phe)
NM_000057.4(BLM):c.1231C>G (p.Leu411Val) rs1567040779
NM_000057.4(BLM):c.1235C>T (p.Thr412Met) rs775209685
NM_000057.4(BLM):c.1236G>A (p.Thr412=) rs762617509
NM_000057.4(BLM):c.1237G>A (p.Glu413Lys) rs887921909
NM_000057.4(BLM):c.1245T>C (p.Asp415=) rs768154708
NM_000057.4(BLM):c.124T>C (p.Ser42Pro) rs1291378382
NM_000057.4(BLM):c.1267_1269CTT[1] (p.Leu424del) rs777886082
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) rs1057516964
NM_000057.4(BLM):c.1288T>C (p.Tyr430His)
NM_000057.4(BLM):c.1295dup (p.Pro432_Asp433insTer) rs1555419806
NM_000057.4(BLM):c.1296T>C (p.Pro432=) rs1555419811
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter) rs754203833
NM_000057.4(BLM):c.1305T>C (p.Leu435=) rs778967807
NM_000057.4(BLM):c.1308T>C (p.Asp436=) rs140178590
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857
NM_000057.4(BLM):c.1319A>G (p.Glu440Gly) rs1567040910
NM_000057.4(BLM):c.1331G>T (p.Cys444Phe) rs1555419834
NM_000057.4(BLM):c.1336A>T (p.Thr446Ser) rs1567040932
NM_000057.4(BLM):c.1346C>G (p.Ser449Cys) rs967698170
NM_000057.4(BLM):c.134A>G (p.Asn45Ser) rs1555418242
NM_000057.4(BLM):c.1358T>G (p.Leu453Ter) rs730881428
NM_000057.4(BLM):c.137A>G (p.Asn46Ser) rs1237910576
NM_000057.4(BLM):c.1387G>A (p.Val463Ile)
NM_000057.4(BLM):c.1388T>G (p.Val463Gly) rs1555419857
NM_000057.4(BLM):c.1397G>A (p.Gly466Glu) rs1567041006
NM_000057.4(BLM):c.13C>T (p.Pro5Ser)
NM_000057.4(BLM):c.1415C>A (p.Thr472Asn)
NM_000057.4(BLM):c.1418C>T (p.Thr473Ile)
NM_000057.4(BLM):c.1430C>T (p.Thr477Ile) rs1567041041
NM_000057.4(BLM):c.1432G>C (p.Gly478Arg) rs1490929990
NM_000057.4(BLM):c.1433G>C (p.Gly478Ala) rs759810567
NM_000057.4(BLM):c.1436T>G (p.Phe479Cys) rs1418071613
NM_000057.4(BLM):c.1437C>G (p.Phe479Leu) rs1567041060
NM_000057.4(BLM):c.1462G>A (p.Glu488Lys) rs1477193473
NM_000057.4(BLM):c.1462G>T (p.Glu488Ter) rs1477193473
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041
NM_000057.4(BLM):c.1468C>T (p.Pro490Ser) rs1567041087
NM_000057.4(BLM):c.1469C>G (p.Pro490Arg) rs878853553
NM_000057.4(BLM):c.1474T>C (p.Phe492Leu) rs764182382
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs) rs746244182
NM_000057.4(BLM):c.1481C>T (p.Thr494Ile) rs751600686
NM_000057.4(BLM):c.1490A>C (p.Gln497Pro) rs368547042
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg)
NM_000057.4(BLM):c.1495T>A (p.Ser499Thr) rs371965329
NM_000057.4(BLM):c.1496C>T (p.Ser499Phe) rs778700833
NM_000057.4(BLM):c.1505G>C (p.Ser502Thr) rs908599703
NM_000057.4(BLM):c.1515G>T (p.Trp505Cys) rs1286401716
NM_000057.4(BLM):c.1519G>A (p.Glu507Lys) rs192491153
NM_000057.4(BLM):c.1544dup (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1546G>T (p.Glu516Ter)
NM_000057.4(BLM):c.1553C>T (p.Ser518Phe)
NM_000057.4(BLM):c.1559T>C (p.Phe520Ser) rs1410283592
NM_000057.4(BLM):c.1568A>T (p.Asn523Ile) rs1385248707
NM_000057.4(BLM):c.157T>A (p.Ser53Thr) rs1555418248
NM_000057.4(BLM):c.1594G>C (p.Asp532His)
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686
NM_000057.4(BLM):c.1610C>A (p.Thr537Asn) rs1555419928
NM_000057.4(BLM):c.1612G>C (p.Ala538Pro)
NM_000057.4(BLM):c.1613C>T (p.Ala538Val) rs778593808
NM_000057.4(BLM):c.1618A>G (p.Ile540Val) rs1060500641
NM_000057.4(BLM):c.1630G>A (p.Glu544Lys)
NM_000057.4(BLM):c.1631A>G (p.Glu544Gly) rs1567041307
NM_000057.4(BLM):c.1633A>G (p.Arg545Gly)
NM_000057.4(BLM):c.1640C>T (p.Thr547Ile) rs758161226
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141
NM_000057.4(BLM):c.1652A>G (p.Tyr551Cys) rs746571244
NM_000057.4(BLM):c.1657A>G (p.Ile553Val)
NM_000057.4(BLM):c.1676A>T (p.Asp559Val)
NM_000057.4(BLM):c.1683_1685TGA[6] (p.Asp566dup) rs768095141
NM_000057.4(BLM):c.1688A>T (p.Asp563Val) rs1288457938
NM_000057.4(BLM):c.1691A>G (p.Asp564Gly) rs1555419944
NM_000057.4(BLM):c.1708A>T (p.Ile570Leu)
NM_000057.4(BLM):c.1712T>C (p.Met571Thr) rs587778109
NM_000057.4(BLM):c.1722A>G (p.Leu574=) rs28385011
NM_000057.4(BLM):c.172C>A (p.Pro58Thr)
NM_000057.4(BLM):c.1730G>A (p.Ser577Asn) rs1567041417
NM_000057.4(BLM):c.1741A>G (p.Thr581Ala) rs587778108
NM_000057.4(BLM):c.174T>C (p.Pro58=) rs576862402
NM_000057.4(BLM):c.1772G>A (p.Arg591Gln)
NM_000057.4(BLM):c.1774C>T (p.Pro592Ser)
NM_000057.4(BLM):c.1785A>T (p.Ser595=) rs79871543
NM_000057.4(BLM):c.1788A>G (p.Val596=) rs1555419972
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) rs138542210
NM_000057.4(BLM):c.17A>C (p.Gln6Pro)
NM_000057.4(BLM):c.1808C>G (p.Ala603Gly) rs1567041486
NM_000057.4(BLM):c.1818C>T (p.Asp606=) rs1343649830
NM_000057.4(BLM):c.1821T>G (p.Cys607Trp)
NM_000057.4(BLM):c.1825C>A (p.Pro609Thr) rs770255643
NM_000057.4(BLM):c.182G>T (p.Arg61Ile) rs1060500644
NM_000057.4(BLM):c.1838C>T (p.Thr613Ile)
NM_000057.4(BLM):c.1850T>C (p.Ile617Thr) rs868510206
NM_000057.4(BLM):c.1856_1858del (p.Phe619del) rs1555419996
NM_000057.4(BLM):c.1863G>C (p.Glu621Asp) rs374965438
NM_000057.4(BLM):c.1864T>C (p.Ser622Pro)
NM_000057.4(BLM):c.1868T>C (p.Ile623Thr) rs1567041556
NM_000057.4(BLM):c.186T>G (p.Asn62Lys) rs146735953
NM_000057.4(BLM):c.1877A>T (p.Tyr626Phe) rs374569385
NM_000057.4(BLM):c.1881T>C (p.Thr627=) rs148678729
NM_000057.4(BLM):c.1894C>A (p.Gln632Lys) rs746857727
NM_000057.4(BLM):c.1907C>G (p.Ser636Cys)
NM_000057.4(BLM):c.1913A>C (p.Asn638Thr) rs587778110
NM_000057.4(BLM):c.1913A>G (p.Asn638Ser) rs587778110
NM_000057.4(BLM):c.191A>C (p.Asp64Ala) rs140382474
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474
NM_000057.4(BLM):c.1924G>A (p.Glu642Lys) rs201458487
NM_000057.4(BLM):c.1927C>T (p.Arg643Cys) rs373090621
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097
NM_000057.4(BLM):c.1931T>A (p.Phe644Tyr)
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter) rs373525781
NM_000057.4(BLM):c.1934A>G (p.Gln645Arg) rs377563699
NM_000057.4(BLM):c.1934A>T (p.Gln645Leu)
NM_000057.4(BLM):c.1936A>G (p.Ser646Gly) rs370293537
NM_000057.4(BLM):c.1940T>C (p.Leu647Pro) rs1555420162
NM_000057.4(BLM):c.1964T>C (p.Met655Thr) rs748567176
NM_000057.4(BLM):c.1973T>C (p.Ile658Thr)
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg) rs747281324
NM_000057.4(BLM):c.201T>C (p.Val67=) rs563887813
NM_000057.4(BLM):c.2025G>A (p.Ala675=) rs781424357
NM_000057.4(BLM):c.2045G>A (p.Gly682Asp) rs1342307269
NM_000057.4(BLM):c.2049A>G (p.Glu683=) rs201440695
NM_000057.4(BLM):c.204C>A (p.Thr68=) rs199927688
NM_000057.4(BLM):c.204C>T (p.Thr68=) rs199927688
NM_000057.4(BLM):c.2051A>C (p.Asp684Ala) rs1262628899
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000057.4(BLM):c.2069C>T (p.Pro690Leu) rs761589072
NM_000057.4(BLM):c.2070G>T (p.Pro690=) rs148078150
NM_000057.4(BLM):c.2074+1G>T rs367543036
NM_000057.4(BLM):c.2074+5G>A rs587779880
NM_000057.4(BLM):c.208G>A (p.Asp70Asn) rs769957028
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter) rs367543028
NM_000057.4(BLM):c.2106T>A (p.Pro702=) rs529421306
NM_000057.4(BLM):c.2113G>C (p.Val705Leu)
NM_000057.4(BLM):c.2115T>C (p.Val705=) rs142787700
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918
NM_000057.4(BLM):c.2122G>C (p.Gly708Arg) rs1555420390
NM_000057.4(BLM):c.2123G>A (p.Gly708Glu)
NM_000057.4(BLM):c.213_214del (p.Ser72fs) rs960430492
NM_000057.4(BLM):c.2143C>T (p.Pro715Ser) rs1060500636
NM_000057.4(BLM):c.214T>G (p.Ser72Ala)
NM_000057.4(BLM):c.2150G>C (p.Arg717Thr) rs28406486
NM_000057.4(BLM):c.2155C>T (p.Leu719Phe) rs587779881
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028
NM_000057.4(BLM):c.2161G>A (p.Val721Ile) rs559554788
NM_000057.4(BLM):c.2171T>C (p.Val724Ala)
NM_000057.4(BLM):c.2183C>G (p.Thr728Ser) rs1567043208
NM_000057.4(BLM):c.2193+1_2193+9del rs1060500652
NM_000057.4(BLM):c.2194A>T (p.Ile732Phe) rs1555420546
NM_000057.4(BLM):c.2207A>G (p.Tyr736Cys)
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2208_2213delinsGATATGT (p.Tyr736_Thr738delinsTer)
NM_000057.4(BLM):c.2212A>G (p.Thr738Ala)
NM_000057.4(BLM):c.2213C>G (p.Thr738Arg) rs1474290499
NM_000057.4(BLM):c.2224A>T (p.Thr742Ser)
NM_000057.4(BLM):c.2229C>T (p.Asp743=) rs889046632
NM_000057.4(BLM):c.2237C>T (p.Ala746Val) rs769498533
NM_000057.4(BLM):c.2241A>G (p.Thr747=) rs1060503987
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471
NM_000057.4(BLM):c.2251C>T (p.Leu751Phe)
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879
NM_000057.4(BLM):c.226C>A (p.Pro76Thr) rs768843912
NM_000057.4(BLM):c.226C>T (p.Pro76Ser) rs768843912
NM_000057.4(BLM):c.2289A>G (p.Leu763=) rs1567044034
NM_000057.4(BLM):c.2289_2290AT[1] (p.Tyr764fs) rs1555420602
NM_000057.4(BLM):c.2293G>A (p.Val765Ile) rs191789336
NM_000057.4(BLM):c.229C>G (p.Leu77Val) rs1555418283
NM_000057.4(BLM):c.2302G>A (p.Glu768Lys) rs1060500640
NM_000057.4(BLM):c.2307+5G>A
NM_000057.4(BLM):c.2310C>T (p.Ile770=) rs759705000
NM_000057.4(BLM):c.2312G>A (p.Cys771Tyr) rs1555420831
NM_000057.4(BLM):c.2315C>T (p.Ala772Val)
NM_000057.4(BLM):c.231A>G (p.Leu77=) rs760696149
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577
NM_000057.4(BLM):c.2340G>A (p.Leu780=)
NM_000057.4(BLM):c.2341_2342GA[3] (p.Asn782fs) rs1555420842
NM_000057.4(BLM):c.2351A>G (p.Tyr784Cys) rs753635754
NM_000057.4(BLM):c.2353_2354insTT (p.Glu785fs) rs1567045130
NM_000057.4(BLM):c.2357G>A (p.Arg786Lys)
NM_000057.4(BLM):c.2360A>G (p.Lys787Arg)
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073
NM_000057.4(BLM):c.2367G>C (p.Leu789Phe) rs1060500651
NM_000057.4(BLM):c.2368G>T (p.Ala790Ser)
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys) rs55880859
NM_000057.4(BLM):c.2372G>A (p.Arg791His)
NM_000057.4(BLM):c.2374T>G (p.Phe792Val)
NM_000057.4(BLM):c.2384A>G (p.Asp795Gly)
NM_000057.4(BLM):c.238A>G (p.Thr80Ala) rs1555418290
NM_000057.4(BLM):c.2393A>T (p.His798Leu)
NM_000057.4(BLM):c.2397T>C (p.Cys799=) rs771209978
NM_000057.4(BLM):c.2407-5A>G rs1555420870
NM_000057.4(BLM):c.241A>G (p.Thr81Ala) rs1060500637
NM_000057.4(BLM):c.2422C>T (p.Arg808Cys) rs759330541
NM_000057.4(BLM):c.2428G>C (p.Asp810His) rs765143263
NM_000057.4(BLM):c.2432A>G (p.Tyr811Cys) rs145029382
NM_000057.4(BLM):c.2434A>C (p.Lys812Gln) rs763827222
NM_000057.4(BLM):c.2452C>G (p.Arg818Gly) rs1279814185
NM_000057.4(BLM):c.2452C>T (p.Arg818Cys) rs1279814185
NM_000057.4(BLM):c.2453G>A (p.Arg818His) rs780514723
NM_000057.4(BLM):c.2453G>T (p.Arg818Leu)
NM_000057.4(BLM):c.2454C>G (p.Arg818=) rs746409922
NM_000057.4(BLM):c.245A>G (p.Asn82Ser) rs1555418292
NM_000057.4(BLM):c.2460G>T (p.Lys820Asn)
NM_000057.4(BLM):c.2474C>T (p.Pro825Leu) rs749632465
NM_000057.4(BLM):c.2475G>A (p.Pro825=) rs147587050
NM_000057.4(BLM):c.2475G>C (p.Pro825=) rs147587050
NM_000057.4(BLM):c.2480T>A (p.Met827Lys) rs748250819
NM_000057.4(BLM):c.2488dup (p.Thr830fs) rs367543019
NM_000057.4(BLM):c.248A>G (p.Gln83Arg) rs377192173
NM_000057.4(BLM):c.2490G>A (p.Thr830=) rs765233032
NM_000057.4(BLM):c.24T>G (p.Asn8Lys) rs1060500635
NM_000057.4(BLM):c.2506A>G (p.Arg836Gly) rs577806633
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs) rs367543024
NM_000057.4(BLM):c.2506del (p.Arg836fs) rs1567045531
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu) rs201427280
NM_000057.4(BLM):c.2516A>G (p.Lys839Arg) rs756815062
NM_000057.4(BLM):c.2524C>A (p.Leu842Met) rs1209722688
NM_000057.4(BLM):c.2532G>T (p.Gln844His)
NM_000057.4(BLM):c.2539del (p.Ile847fs) rs770751979
NM_000057.4(BLM):c.2540T>G (p.Ile847Ser)
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266
NM_000057.4(BLM):c.2552A>G (p.Gln851Arg) rs1454270314
NM_000057.4(BLM):c.2555+6T>C
NM_000057.4(BLM):c.2556-8T>A
NM_000057.4(BLM):c.2561G>A (p.Ser854Asn) rs758692622
NM_000057.4(BLM):c.2563A>G (p.Met855Val) rs1567052166
NM_000057.4(BLM):c.256G>C (p.Val86Leu)
NM_000057.4(BLM):c.2572A>G (p.Asn858Asp) rs1555422355
NM_000057.4(BLM):c.2580_2581del (p.His860fs) rs864622347
NM_000057.4(BLM):c.2594A>G (p.Tyr865Cys) rs777842626
NM_000057.4(BLM):c.2595T>C (p.Tyr865=) rs1060503989
NM_000057.4(BLM):c.2598A>T (p.Val866=) rs574053990
NM_000057.4(BLM):c.2603C>G (p.Pro868Arg)
NM_000057.4(BLM):c.2604G>A (p.Pro868=) rs768447097
NM_000057.4(BLM):c.2605A>C (p.Lys869Gln) rs1555422363
NM_000057.4(BLM):c.2619G>C (p.Lys873Asn) rs146723808
NM_000057.4(BLM):c.261G>A (p.Lys87=) rs372668612
NM_000057.4(BLM):c.2635C>G (p.Leu879Val) rs1461606733
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln) rs201770808
NM_000057.4(BLM):c.2643G>C (p.Trp881Cys)
NM_000057.4(BLM):c.2647A>G (p.Arg883Gly)
NM_000057.4(BLM):c.264C>A (p.Asp88Glu) rs757984551
NM_000057.4(BLM):c.2656C>A (p.His886Asn) rs765636566
NM_000057.4(BLM):c.2662+2T>C rs1567052324
NM_000057.4(BLM):c.2662T>C (p.Tyr888His) rs758696992
NM_000057.4(BLM):c.2663-5G>A rs1161787867
NM_000057.4(BLM):c.2672G>A (p.Gly891Glu) rs763471784
NM_000057.4(BLM):c.2674A>G (p.Ile892Val) rs764587569
NM_000057.4(BLM):c.2679T>C (p.Ile893=) rs751945434
NM_000057.4(BLM):c.2688C>T (p.Leu896=) rs1488182321
NM_000057.4(BLM):c.2691C>T (p.Ser897=) rs756155242
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884
NM_000057.4(BLM):c.2696G>A (p.Arg899Gln) rs748054605
NM_000057.4(BLM):c.2709C>T (p.Thr903=) rs1555422522
NM_000057.4(BLM):c.2720C>T (p.Thr907Met) rs367953471
NM_000057.4(BLM):c.2721G>A (p.Thr907=) rs1009065257
NM_000057.4(BLM):c.2726A>C (p.Gln909Pro)
NM_000057.4(BLM):c.2729G>C (p.Arg910Thr) rs1567053290
NM_000057.4(BLM):c.2739C>T (p.Leu913=) rs759223856
NM_000057.4(BLM):c.2740G>A (p.Ala914Thr) rs372013507
NM_000057.4(BLM):c.2744C>T (p.Ala915Val) rs775026151
NM_000057.4(BLM):c.2746C>G (p.Leu916Val) rs1424143421
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226
NM_000057.4(BLM):c.2768G>C (p.Ser923Thr) rs1219485932
NM_000057.4(BLM):c.2784T>C (p.Asp928=) rs1032746564
NM_000057.4(BLM):c.2787A>C (p.Glu929Asp) rs764679551
NM_000057.4(BLM):c.2806A>G (p.Asn936Asp) rs1422513540
NM_000057.4(BLM):c.280C>T (p.Pro94Ser) rs1417089374
NM_000057.4(BLM):c.2822A>G (p.Gln941Arg) rs762267785
NM_000057.4(BLM):c.2824-2A>T rs745538883
NM_000057.4(BLM):c.2824-7A>G rs374616797
NM_000057.4(BLM):c.2838A>G (p.Thr946=) rs200850440
NM_000057.4(BLM):c.2838A>T (p.Thr946=) rs200850440
NM_000057.4(BLM):c.2839A>G (p.Ile947Val) rs189925962
NM_000057.4(BLM):c.2840T>C (p.Ile947Thr) rs1024172175
NM_000057.4(BLM):c.2843C>A (p.Ala948Glu)
NM_000057.4(BLM):c.284C>A (p.Ala95Glu)
NM_000057.4(BLM):c.2851_2857del (p.Met951fs) rs1309932713
NM_000057.4(BLM):c.2858T>C (p.Ile953Thr) rs587778102
NM_000057.4(BLM):c.2867C>T (p.Pro956Leu)
NM_000057.4(BLM):c.2868G>A (p.Pro956=) rs199861261
NM_000057.4(BLM):c.2871C>T (p.Asp957=) rs878853554
NM_000057.4(BLM):c.2872G>A (p.Val958Met)
NM_000057.4(BLM):c.2873T>A (p.Val958Glu) rs1555423088
NM_000057.4(BLM):c.2875C>T (p.Arg959Ter) rs762354041
NM_000057.4(BLM):c.2877A>C (p.Arg959=) rs773582992
NM_000057.4(BLM):c.2881G>T (p.Val961Leu) rs1060500639
NM_000057.4(BLM):c.2882T>C (p.Val961Ala) rs1567056582
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226
NM_000057.4(BLM):c.2915G>T (p.Gly972Val)
NM_000057.4(BLM):c.2917T>A (p.Tyr973Asn) rs1555423104
NM_000057.4(BLM):c.2919C>T (p.Tyr973=) rs181161119
NM_000057.4(BLM):c.2923C>G (p.Gln975Glu)
NM_000057.4(BLM):c.2923del (p.Gln975fs) rs367543014
NM_000057.4(BLM):c.2950G>A (p.Gly984Arg) rs755784410
NM_000057.4(BLM):c.2956A>G (p.Ile986Val) rs1567056667
NM_000057.4(BLM):c.2957T>C (p.Ile986Thr) rs1060500631
NM_000057.4(BLM):c.2960C>G (p.Ser987Cys) rs1555423111
NM_000057.4(BLM):c.2960C>T (p.Ser987Phe) rs1555423111
NM_000057.4(BLM):c.2965T>C (p.Cys989Arg) rs1555423112
NM_000057.4(BLM):c.296_297CA[1] (p.Gln100fs) rs745807085
NM_000057.4(BLM):c.2980A>G (p.Thr994Ala) rs1060500632
NM_000057.4(BLM):c.2983T>C (p.Tyr995His) rs142723411
NM_000057.4(BLM):c.2996C>G (p.Thr999Ser) rs1567056730
NM_000057.4(BLM):c.3000A>T (p.Arg1000Ser) rs1395403568
NM_000057.4(BLM):c.3013A>G (p.Ile1005Val) rs201829983
NM_000057.4(BLM):c.3014T>C (p.Ile1005Thr)
NM_000057.4(BLM):c.3015A>G (p.Ile1005Met) rs1567056762
NM_000057.4(BLM):c.3019+7T>C rs761087545
NM_000057.4(BLM):c.3020-7_3020-5del
NM_000057.4(BLM):c.3021G>A (p.Met1007Ile) rs1244649224
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121
NM_000057.4(BLM):c.3029A>T (p.Asp1010Val) rs1459742200
NM_000057.4(BLM):c.302G>C (p.Arg101Thr)
NM_000057.4(BLM):c.3031G>A (p.Gly1011Arg) rs370073229
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945
NM_000057.4(BLM):c.3042T>C (p.His1014=) rs1060503986
NM_000057.4(BLM):c.3044C>T (p.Thr1015Ile) rs202196488
NM_000057.4(BLM):c.3062A>G (p.Asn1021Ser) rs369629509
NM_000057.4(BLM):c.3062A>T (p.Asn1021Ile) rs369629509
NM_000057.4(BLM):c.3071A>G (p.Tyr1024Cys) rs201676342
NM_000057.4(BLM):c.3079G>A (p.Val1027Ile) rs1300299815
NM_000057.4(BLM):c.3083A>G (p.His1028Arg) rs1487267563
NM_000057.4(BLM):c.3091G>A (p.Glu1031Lys) rs1396000294
NM_000057.4(BLM):c.3098T>C (p.Ile1033Thr) rs1060500647
NM_000057.4(BLM):c.3113G>C (p.Arg1038Thr) rs1555423425
NM_000057.4(BLM):c.3117A>G (p.Ile1039Met) rs576199850
NM_000057.4(BLM):c.311C>T (p.Ser104Leu) rs367543030
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035
NM_000057.4(BLM):c.3131A>G (p.Tyr1044Cys) rs747571272
NM_000057.4(BLM):c.3153T>A (p.Asn1051Lys)
NM_000057.4(BLM):c.3154C>A (p.Pro1052Thr)
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.3167A>G (p.Lys1056Arg) rs1465842377
NM_000057.4(BLM):c.3191A>G (p.Asp1064Gly) rs367543032
NM_000057.4(BLM):c.3195T>C (p.Asn1065=) rs1297274221
NM_000057.4(BLM):c.320dup (p.Leu107fs) rs781221411
NM_000057.4(BLM):c.3210+10G>T rs765057634
NM_000057.4(BLM):c.3210+2del rs587779886
NM_000057.4(BLM):c.3210+4A>G rs776621429
NM_000057.4(BLM):c.3224G>A (p.Arg1075Lys)
NM_000057.4(BLM):c.3225A>G (p.Arg1075=) rs7171673
NM_000057.4(BLM):c.3229G>A (p.Val1077Met) rs779096973
NM_000057.4(BLM):c.3236A>G (p.Asp1079Gly) rs776714693
NM_000057.4(BLM):c.3238G>A (p.Asp1080Asn) rs771767745
NM_000057.4(BLM):c.3238G>C (p.Asp1080His) rs771767745
NM_000057.4(BLM):c.3242T>A (p.Val1081Glu) rs762716289
NM_000057.4(BLM):c.3261del (p.Phe1087fs) rs1319786857
NM_000057.4(BLM):c.326C>G (p.Pro109Arg) rs1555418317
NM_000057.4(BLM):c.3272A>G (p.His1091Arg) rs750954124
NM_000057.4(BLM):c.3286G>A (p.Gly1096Arg) rs1334208387
NM_000057.4(BLM):c.3287G>T (p.Gly1096Val) rs893352310
NM_000057.4(BLM):c.3293G>A (p.Arg1098Lys)
NM_000057.4(BLM):c.3297T>G (p.Asn1099Lys)
NM_000057.4(BLM):c.3305A>G (p.His1102Arg)
NM_000057.4(BLM):c.3308T>C (p.Val1103Ala)
NM_000057.4(BLM):c.3310G>A (p.Gly1104Ser) rs141269464
NM_000057.4(BLM):c.3311G>A (p.Gly1104Asp) rs150784889
NM_000057.4(BLM):c.3324A>T (p.Arg1108Ser)
NM_000057.4(BLM):c.3331A>G (p.Met1111Val)
NM_000057.4(BLM):c.3341T>C (p.Leu1114Pro) rs1444338168
NM_000057.4(BLM):c.3346G>C (p.Asp1116His) rs936749145
NM_000057.4(BLM):c.3348C>T (p.Asp1116=) rs372697241
NM_000057.4(BLM):c.3354C>A (p.Phe1118Leu) rs1351493073
NM_000057.4(BLM):c.3358+9T>C rs1555423800
NM_000057.4(BLM):c.3358G>A (p.Gly1120Arg) rs139773499
NM_000057.4(BLM):c.3359-9T>C rs1060503988
NM_000057.4(BLM):c.335T>C (p.Leu112Ser)
NM_000057.4(BLM):c.3360G>T (p.Gly1120=) rs1567062602
NM_000057.4(BLM):c.3362G>C (p.Ser1121Thr)
NM_000057.4(BLM):c.3362G>T (p.Ser1121Ile)
NM_000057.4(BLM):c.3365A>C (p.Lys1122Thr)
NM_000057.4(BLM):c.3371C>G (p.Ala1124Gly)
NM_000057.4(BLM):c.3383_3384delinsATATTTGTATACTT (p.Ser1128delinsTyrIleCysIleLeu)
NM_000057.4(BLM):c.3386G>A (p.Gly1129Asp) rs375841213
NM_000057.4(BLM):c.3397A>G (p.Lys1133Glu) rs145027663
NM_000057.4(BLM):c.3400G>A (p.Gly1134Arg)
NM_000057.4(BLM):c.3401G>A (p.Gly1134Glu) rs1555424286
NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter) rs587783037
NM_000057.4(BLM):c.3416G>A (p.Arg1139Gln) rs771776126
NM_000057.4(BLM):c.3416G>C (p.Arg1139Pro) rs771776126
NM_000057.4(BLM):c.3418C>T (p.His1140Tyr) rs746602812
NM_000057.4(BLM):c.3422A>G (p.Asn1141Ser)
NM_000057.4(BLM):c.3426C>T (p.Ala1142=) rs147148171
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys) rs140387675
NM_000057.4(BLM):c.342T>C (p.Thr114=) rs746257638
NM_000057.4(BLM):c.3434T>C (p.Leu1145Pro)
NM_000057.4(BLM):c.343C>T (p.Pro115Ser) rs1173491187
NM_000057.4(BLM):c.3442A>G (p.Lys1148Glu)
NM_000057.4(BLM):c.3447G>A (p.Leu1149=) rs1195487968
NM_000057.4(BLM):c.3449T>C (p.Ile1150Thr) rs1378138456
NM_000057.4(BLM):c.344C>T (p.Pro115Leu)
NM_000057.4(BLM):c.3472G>A (p.Asp1158Asn) rs1567062737
NM_000057.4(BLM):c.3478T>C (p.Tyr1160His)
NM_000057.4(BLM):c.3485A>G (p.Asn1162Ser) rs1237460907
NM_000057.4(BLM):c.3496C>T (p.Gln1166Ter)
NM_000057.4(BLM):c.3497A>T (p.Gln1166Leu) rs371774802
NM_000057.4(BLM):c.3500C>G (p.Ala1167Gly) rs987150263
NM_000057.4(BLM):c.3505G>A (p.Ala1169Thr) rs777492549
NM_000057.4(BLM):c.3511G>A (p.Val1171Met) rs770585247
NM_000057.4(BLM):c.3513G>A (p.Val1171=) rs780615126
NM_000057.4(BLM):c.3520G>A (p.Gly1174Arg)
NM_000057.4(BLM):c.3524A>G (p.Asn1175Ser)
NM_000057.4(BLM):c.353T>C (p.Val118Ala)
NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu)
NM_000057.4(BLM):c.3558+1G>T rs148969222
NM_000057.4(BLM):c.3558+3A>G rs766386042
NM_000057.4(BLM):c.3559-1G>A rs1555424368
NM_000057.4(BLM):c.3569T>C (p.Met1190Thr) rs1555424373
NM_000057.4(BLM):c.3569delinsAA (p.Met1190fs) rs1567063125
NM_000057.4(BLM):c.3589del (p.Ser1197fs) rs1555424376
NM_000057.4(BLM):c.3592G>A (p.Val1198Met) rs142928725
NM_000057.4(BLM):c.3608C>T (p.Ala1203Val) rs757088548
NM_000057.4(BLM):c.3609G>A (p.Ala1203=) rs151114049
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.4(BLM):c.362C>G (p.Thr121Ser) rs1567035318
NM_000057.4(BLM):c.3641T>C (p.Met1214Thr)
NM_000057.4(BLM):c.3642G>A (p.Met1214Ile) rs377253486
NM_000057.4(BLM):c.3651A>T (p.Lys1217Asn) rs587779887
NM_000057.4(BLM):c.3658G>A (p.Gly1220Arg) rs1567063212
NM_000057.4(BLM):c.3668C>G (p.Thr1223Arg)
NM_000057.4(BLM):c.3671A>C (p.Glu1224Ala)
NM_000057.4(BLM):c.3685C>G (p.Leu1229Val) rs1555424395
NM_000057.4(BLM):c.368A>G (p.Gln123Arg) rs371223446
NM_000057.4(BLM):c.371A>G (p.Asn124Ser) rs770825975
NM_000057.4(BLM):c.3729C>T (p.Thr1243=) rs747293738
NM_000057.4(BLM):c.372C>T (p.Asn124=) rs776602757
NM_000057.4(BLM):c.3733A>T (p.Thr1245Ser) rs1555424403
NM_000057.4(BLM):c.3743A>T (p.Lys1248Met) rs1555424404
NM_000057.4(BLM):c.3747T>A (p.Leu1249=) rs776748831
NM_000057.4(BLM):c.3751+10C>G rs199685140
NM_000057.4(BLM):c.3751+10C>T rs199685140
NM_000057.4(BLM):c.3751+9A>C rs774368488
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln) rs587779888
NM_000057.4(BLM):c.3757T>G (p.Leu1253Val)
NM_000057.4(BLM):c.376C>T (p.Pro126Ser)
NM_000057.4(BLM):c.3774G>A (p.Glu1258=)
NM_000057.4(BLM):c.377C>T (p.Pro126Leu) rs1060500650
NM_000057.4(BLM):c.3781C>T (p.Leu1261Phe) rs1567065644
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180
NM_000057.4(BLM):c.379A>G (p.Thr127Ala)
NM_000057.4(BLM):c.3813G>A (p.Leu1271=) rs376082823
NM_000057.4(BLM):c.3826G>A (p.Ala1276Thr) rs1567065690
NM_000057.4(BLM):c.3828G>A (p.Ala1276=) rs369383272
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter) rs367543031
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886
NM_000057.4(BLM):c.3861A>G (p.Glu1287=) rs977539638
NM_000057.4(BLM):c.3865A>T (p.Thr1289Ser) rs1060500645
NM_000057.4(BLM):c.3867A>G (p.Thr1289=) rs759000443
NM_000057.4(BLM):c.3869C>T (p.Ser1290Leu) rs1031421025
NM_000057.4(BLM):c.3872C>T (p.Pro1291Leu) rs373003917
NM_000057.4(BLM):c.3874+2T>C rs1555424890
NM_000057.4(BLM):c.3875-2A>G rs150421256
NM_000057.4(BLM):c.3875-5T>C
NM_000057.4(BLM):c.3875C>A (p.Ala1292Asp) rs1567066745
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085
NM_000057.4(BLM):c.3892G>A (p.Gly1298Arg) rs587779889
NM_000057.4(BLM):c.3897A>G (p.Ile1299Met)
NM_000057.4(BLM):c.3921C>T (p.Pro1307=) rs149286215
NM_000057.4(BLM):c.3922G>A (p.Gly1308Arg) rs768010078
NM_000057.4(BLM):c.3923G>A (p.Gly1308Glu) rs750865930
NM_000057.4(BLM):c.3924A>T (p.Gly1308=) rs1019687102
NM_000057.4(BLM):c.3926G>C (p.Arg1309Thr) rs1280067298
NM_000057.4(BLM):c.3930T>G (p.Ser1310Arg) rs886051552
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr) rs527291754
NM_000057.4(BLM):c.3936T>C (p.Ala1312=) rs1034211979
NM_000057.4(BLM):c.3944_3945delinsCT (p.Leu1315Pro) rs1567066844
NM_000057.4(BLM):c.3948C>T (p.Asp1316=) rs375896520
NM_000057.4(BLM):c.3949G>A (p.Glu1317Lys) rs730880251
NM_000057.4(BLM):c.394C>T (p.Arg132Trp)
NM_000057.4(BLM):c.3957A>T (p.Ile1319=) rs1555425082
NM_000057.4(BLM):c.3958C>A (p.Pro1320Thr)
NM_000057.4(BLM):c.395G>A (p.Arg132Gln)
NM_000057.4(BLM):c.3960C>T (p.Pro1320=) rs56009845
NM_000057.4(BLM):c.3960dup (p.Val1321fs) rs1567066891
NM_000057.4(BLM):c.3970C>T (p.His1324Tyr) rs748943489
NM_000057.4(BLM):c.3976T>A (p.Phe1326Ile) rs1222912167
NM_000057.4(BLM):c.3985A>G (p.Lys1329Glu)
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly) rs150631940
NM_000057.4(BLM):c.3992G>A (p.Arg1331Lys) rs1060500648
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs) rs1057516261
NM_000057.4(BLM):c.4016T>C (p.Met1339Thr)
NM_000057.4(BLM):c.4019C>T (p.Pro1340Leu) rs766959130
NM_000057.4(BLM):c.4021G>T (p.Ala1341Ser)
NM_000057.4(BLM):c.4022C>T (p.Ala1341Val) rs201149857
NM_000057.4(BLM):c.4037A>G (p.Lys1346Arg)
NM_000057.4(BLM):c.403G>T (p.Ala135Ser) rs373832397
NM_000057.4(BLM):c.4059T>A (p.Ser1353Arg) rs1060500646
NM_000057.4(BLM):c.4061G>C (p.Gly1354Ala) rs891751726
NM_000057.4(BLM):c.4076+1G>T rs752899566
NM_000057.4(BLM):c.4076+3A>G rs758564326
NM_000057.4(BLM):c.4076+4T>G rs183176301
NM_000057.4(BLM):c.4076G>A (p.Gly1359Glu)
NM_000057.4(BLM):c.4077-10C>T rs145310008
NM_000057.4(BLM):c.4077-5T>C rs200653178
NM_000057.4(BLM):c.4088C>T (p.Thr1363Ile) rs1060500649
NM_000057.4(BLM):c.4090T>C (p.Cys1364Arg)
NM_000057.4(BLM):c.4093A>G (p.Arg1365Gly) rs759982203
NM_000057.4(BLM):c.4102T>C (p.Ser1368Pro) rs587778104
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988
NM_000057.4(BLM):c.4110A>G (p.Lys1370=) rs1555425406
NM_000057.4(BLM):c.4112C>T (p.Thr1371Met) rs587779891
NM_000057.4(BLM):c.4113G>A (p.Thr1371=) rs61754135
NM_000057.4(BLM):c.4122C>T (p.Ser1374=) rs145277875
NM_000057.4(BLM):c.4126A>G (p.Ile1376Val) rs587779892
NM_000057.4(BLM):c.4130T>C (p.Ile1377Thr) rs1555425416
NM_000057.4(BLM):c.4140T>G (p.Ser1380Arg) rs747834576
NM_000057.4(BLM):c.4162G>C (p.Ala1388Pro)
NM_000057.4(BLM):c.416T>C (p.Leu139Ser)
NM_000057.4(BLM):c.4177A>G (p.Asn1393Asp)
NM_000057.4(BLM):c.4186T>C (p.Leu1396=) rs376734461
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055
NM_000057.4(BLM):c.4205C>T (p.Pro1402Leu)
NM_000057.4(BLM):c.4210C>T (p.Pro1404Ser) rs1567069054
NM_000057.4(BLM):c.4214T>C (p.Ile1405Thr) rs763323767
NM_000057.4(BLM):c.4216_4217del (p.Ile1405_Asn1406insTer) rs1567069065
NM_000057.4(BLM):c.4220G>A (p.Arg1407Lys) rs557057587
NM_000057.4(BLM):c.4221A>C (p.Arg1407Ser) rs1567069076
NM_000057.4(BLM):c.4223C>G (p.Pro1408Arg) rs1022266595
NM_000057.4(BLM):c.4223C>T (p.Pro1408Leu)
NM_000057.4(BLM):c.4224G>A (p.Pro1408=) rs774367622
NM_000057.4(BLM):c.4240T>C (p.Tyr1414His) rs753800694
NM_000057.4(BLM):c.4248C>G (p.Phe1416Leu) rs1567069125
NM_000057.4(BLM):c.433C>G (p.Pro145Ala) rs1555418335
NM_000057.4(BLM):c.437A>T (p.Asp146Val) rs902876126
NM_000057.4(BLM):c.43C>T (p.Arg15Cys) rs148545569
NM_000057.4(BLM):c.448A>G (p.Thr150Ala) rs1567035400
NM_000057.4(BLM):c.44G>A (p.Arg15His) rs752755503
NM_000057.4(BLM):c.451A>G (p.Ile151Val) rs780472557
NM_000057.4(BLM):c.455A>G (p.Asn152Ser)
NM_000057.4(BLM):c.457G>C (p.Asp153His) rs368158276
NM_000057.4(BLM):c.465T>C (p.Asp155=) rs185349681
NM_000057.4(BLM):c.470T>C (p.Met157Thr)
NM_000057.4(BLM):c.485C>T (p.Thr162Ile)
NM_000057.4(BLM):c.488C>T (p.Ser163Phe) rs745819553
NM_000057.4(BLM):c.489T>C (p.Ser163=) rs781044650
NM_000057.4(BLM):c.491A>C (p.Glu164Ala) rs1555418365
NM_000057.4(BLM):c.499A>G (p.Lys167Glu) rs775285496
NM_000057.4(BLM):c.4G>T (p.Ala2Ser)
NM_000057.4(BLM):c.506T>G (p.Phe169Cys) rs1013299710
NM_000057.4(BLM):c.542G>T (p.Ser181Ile) rs587779893
NM_000057.4(BLM):c.543C>A (p.Ser181Arg) rs761288442
NM_000057.4(BLM):c.543C>T (p.Ser181=) rs761288442
NM_000057.4(BLM):c.544A>G (p.Thr182Ala) rs1060500643
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer) rs367543035
NM_000057.4(BLM):c.563A>G (p.Lys188Arg)
NM_000057.4(BLM):c.566G>A (p.Gly189Asp)
NM_000057.4(BLM):c.572G>T (p.Arg191Ile) rs569086568
NM_000057.4(BLM):c.577T>C (p.Phe193Leu)
NM_000057.4(BLM):c.57A>T (p.Arg19Ser) rs1555418008
NM_000057.4(BLM):c.586G>A (p.Ala196Thr) rs1567035597
NM_000057.4(BLM):c.600_603AACA[1] (p.Asn202fs)
NM_000057.4(BLM):c.607A>G (p.Thr203Ala) rs1060500633
NM_000057.4(BLM):c.615G>A (p.Lys205=) rs28903082
NM_000057.4(BLM):c.619del (p.Asp207fs)
NM_000057.4(BLM):c.623T>G (p.Leu208Trp) rs1555418411
NM_000057.4(BLM):c.635C>T (p.Ser212Phe) rs777938065
NM_000057.4(BLM):c.645C>T (p.Ser215=) rs56218710
NM_000057.4(BLM):c.646G>A (p.Glu216Lys) rs779934502
NM_000057.4(BLM):c.64A>G (p.Asn22Asp)
NM_000057.4(BLM):c.651A>C (p.Gln217His) rs1258361408
NM_000057.4(BLM):c.655G>C (p.Asp219His)
NM_000057.4(BLM):c.656A>C (p.Asp219Ala) rs1246909789
NM_000057.4(BLM):c.657T>G (p.Asp219Glu) rs1447056195
NM_000057.4(BLM):c.671A>C (p.Gln224Pro) rs770111029
NM_000057.4(BLM):c.671A>G (p.Gln224Arg) rs770111029
NM_000057.4(BLM):c.679G>A (p.Asp227Asn) rs1555418427
NM_000057.4(BLM):c.685G>C (p.Glu229Gln) rs1555418428
NM_000057.4(BLM):c.696C>A (p.Ser232Arg) rs201845548
NM_000057.4(BLM):c.700G>A (p.Asp234Asn) rs878853555
NM_000057.4(BLM):c.702T>C (p.Asp234=) rs1271054585
NM_000057.4(BLM):c.709del (p.Cys237fs)
NM_000057.4(BLM):c.715G>A (p.Asp239Asn) rs200756519
NM_000057.4(BLM):c.715G>C (p.Asp239His) rs200756519
NM_000057.4(BLM):c.716A>G (p.Asp239Gly) rs751699247
NM_000057.4(BLM):c.722G>A (p.Gly241Asp) rs200897029
NM_000057.4(BLM):c.724C>T (p.Pro242Ser)
NM_000057.4(BLM):c.725C>G (p.Pro242Arg) rs1060500642
NM_000057.4(BLM):c.727A>G (p.Ile243Val) rs201722470
NM_000057.4(BLM):c.752A>T (p.Asp251Val) rs1555418456
NM_000057.4(BLM):c.759G>A (p.Gln253=) rs34580216
NM_000057.4(BLM):c.763A>G (p.Ser255Gly) rs1567035814
NM_000057.4(BLM):c.768_769CT[2] (p.Leu258fs) rs367543013
NM_000057.4(BLM):c.780T>C (p.Thr260=) rs55763079
NM_000057.4(BLM):c.782A>G (p.His261Arg) rs763166861
NM_000057.4(BLM):c.794A>G (p.Glu265Gly)
NM_000057.4(BLM):c.800-3T>G rs377266736
NM_000057.4(BLM):c.803A>G (p.Asn268Ser)
NM_000057.4(BLM):c.805A>G (p.Ser269Gly) rs141411463
NM_000057.4(BLM):c.807C>T (p.Ser269=) rs147850738
NM_000057.4(BLM):c.808G>A (p.Glu270Lys) rs762053925
NM_000057.4(BLM):c.813_815GAA[2] (p.Lys273del) rs587779895
NM_000057.4(BLM):c.816G>A (p.Lys272=) rs139295905
NM_000057.4(BLM):c.820A>G (p.Asn274Asp)
NM_000057.4(BLM):c.820A>T (p.Asn274Tyr)
NM_000057.4(BLM):c.835G>T (p.Glu279Ter) rs1567036566
NM_000057.4(BLM):c.839_888del (p.Glu279_Leu280insTer) rs1567036579
NM_000057.4(BLM):c.842A>C (p.His281Pro) rs202042636
NM_000057.4(BLM):c.842A>G (p.His281Arg) rs202042636
NM_000057.4(BLM):c.843T>G (p.His281Gln) rs1567036601
NM_000057.4(BLM):c.847A>G (p.Thr283Ala) rs149598003
NM_000057.4(BLM):c.848C>G (p.Thr283Ser) rs1567036612
NM_000057.4(BLM):c.856G>T (p.Val286Phe)
NM_000057.4(BLM):c.861A>G (p.Pro287=) rs1555418666
NM_000057.4(BLM):c.874_876GAT[5] (p.Asp295dup) rs1208432656
NM_000057.4(BLM):c.883G>T (p.Asp295Tyr)
NM_000057.4(BLM):c.887A>G (p.Tyr296Cys) rs775005766
NM_000057.4(BLM):c.887A>T (p.Tyr296Phe)
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991
NM_000057.4(BLM):c.894G>A (p.Thr298=) rs762144355
NM_000057.4(BLM):c.918A>G (p.Glu306=) rs760806762
NM_000057.4(BLM):c.931G>T (p.Ala311Ser) rs753911420
NM_000057.4(BLM):c.933T>C (p.Ala311=) rs1413246062
NM_000057.4(BLM):c.933_935TTC[2] (p.Ser316del) rs564966225
NM_000057.4(BLM):c.934T>G (p.Ser312Ala) rs372454889
NM_000057.4(BLM):c.959+1_959+9del rs765061205
NM_000057.4(BLM):c.959G>C (p.Ser320Thr)
NM_000057.4(BLM):c.960-1G>A
NM_000057.4(BLM):c.960-4G>A rs1555418976
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061
NM_000057.4(BLM):c.98+1G>T rs750293380
NM_000057.4(BLM):c.98+6T>G rs886051550
NM_000057.4(BLM):c.980C>G (p.Thr327Ser)
NM_000057.4(BLM):c.98C>T (p.Ser33Leu) rs139282091
NM_000057.4(BLM):c.99-9A>T rs1419730289
NM_000057.4(BLM):c.991_995del (p.Lys331fs) rs786204524
NM_000057.4(BLM):c.992A>C (p.Lys331Thr) rs1351404875

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.