NM_003073.5(SMARCB1):c.897G>A (p.Ser299=)
|
rs2229354
|
0.10948
|
NM_003073.5(SMARCB1):c.-117C>T
|
rs11090285
|
0.08005
|
NM_003073.5(SMARCB1):c.362+7C>T
|
rs34746244
|
0.00815
|
NM_003073.5(SMARCB1):c.438A>G (p.Pro146=)
|
rs35105793
|
0.00536
|
NM_003073.5(SMARCB1):c.-31C>T
|
rs34276473
|
0.00535
|
NM_003073.5(SMARCB1):c.-115C>T
|
rs551328283
|
0.00242
|
NM_003073.5(SMARCB1):c.628+13C>T
|
rs184021903
|
0.00235
|
NM_000268.4(NF2):c.*359G>A
|
rs572307337
|
0.00217
|
NM_003073.5(SMARCB1):c.-184G>A
|
rs563943196
|
0.00165
|
NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu)
|
rs148677674
|
0.00077
|
NM_003073.5(SMARCB1):c.*159C>G
|
rs1022324232
|
0.00055
|
NM_003073.5(SMARCB1):c.*293C>T
|
rs754865420
|
0.00051
|
NM_003073.5(SMARCB1):c.*33T>G
|
rs11541580
|
0.00034
|
NM_003073.5(SMARCB1):c.696G>A (p.Thr232=)
|
rs145934279
|
0.00029
|
NM_003073.5(SMARCB1):c.*15C>A
|
rs369400289
|
0.00028
|
NM_006767.4(LZTR1):c.1939A>G (p.Ile647Val)
|
rs148916790
|
0.00025
|
NM_006767.4(LZTR1):c.1412G>A (p.Arg471His)
|
rs139031749
|
0.00021
|
NM_003073.5(SMARCB1):c.1A>G (p.Met1Val)
|
rs367768260
|
0.00020
|
NM_006767.4(LZTR1):c.264-13G>A
|
rs587777176
|
0.00017
|
NM_000268.4(NF2):c.114+20G>T
|
rs746868503
|
0.00016
|
NM_006767.4(LZTR1):c.1517C>T (p.Pro506Leu)
|
rs763950976
|
0.00016
|
NM_006767.4(LZTR1):c.2407-18G>A
|
rs542841506
|
0.00014
|
NM_006767.4(LZTR1):c.488C>T (p.Thr163Met)
|
rs200806641
|
0.00014
|
NM_003073.5(SMARCB1):c.-148T>C
|
rs886057283
|
0.00010
|
NM_006767.4(LZTR1):c.410C>A (p.Thr137Asn)
|
rs146627447
|
0.00010
|
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter)
|
rs150419186
|
0.00010
|
NM_003073.5(SMARCB1):c.*17C>T
|
rs372348692
|
0.00009
|
NM_006767.4(LZTR1):c.1943-256C>T
|
rs761685529
|
0.00009
|
NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp)
|
rs776893978
|
0.00009
|
NM_003073.5(SMARCB1):c.*113C>T
|
rs886057286
|
0.00008
|
NM_006767.4(LZTR1):c.1303C>T (p.Arg435Trp)
|
rs369722558
|
0.00008
|
NM_006767.4(LZTR1):c.1711G>A (p.Glu571Lys)
|
rs5761750
|
0.00008
|
NM_006767.4(LZTR1):c.2023G>A (p.Gly675Arg)
|
rs369362070
|
0.00008
|
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)
|
rs189150283
|
0.00007
|
NM_003073.5(SMARCB1):c.-17C>T
|
rs372777519
|
0.00006
|
NM_006767.4(LZTR1):c.1354A>G (p.Lys452Glu)
|
rs200296313
|
0.00006
|
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp)
|
rs550922200
|
0.00006
|
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)
|
rs587777180
|
0.00006
|
NM_006767.4(LZTR1):c.1852G>A (p.Glu618Lys)
|
rs766345180
|
0.00006
|
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys)
|
rs587777178
|
0.00006
|
NM_006767.4(LZTR1):c.2089C>T (p.Arg697Trp)
|
rs751516987
|
0.00006
|
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter)
|
rs149850248
|
0.00005
|
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr)
|
rs141672122
|
0.00005
|
NM_006767.4(LZTR1):c.988A>G (p.Ser330Gly)
|
rs777443417
|
0.00005
|
NM_000268.4(NF2):c.1619A>G (p.Asn540Ser)
|
rs774824164
|
0.00004
|
NM_003073.5(SMARCB1):c.1032C>T (p.Gly344=)
|
rs149451748
|
0.00004
|
NM_006767.4(LZTR1):c.1019G>A (p.Arg340Gln)
|
rs368589786
|
0.00004
|
NM_006767.4(LZTR1):c.1183G>A (p.Val395Ile)
|
rs373591504
|
0.00004
|
NM_006767.4(LZTR1):c.1195G>A (p.Ala399Thr)
|
rs778238285
|
0.00004
|
NM_006767.4(LZTR1):c.1514G>A (p.Arg505Gln)
|
rs201773172
|
0.00004
|
NM_006767.4(LZTR1):c.1942+3A>G
|
rs763690028
|
0.00004
|
NM_006767.4(LZTR1):c.1943-1G>A
|
rs1189015572
|
0.00004
|
NM_006767.4(LZTR1):c.2032C>T (p.Arg678Trp)
|
rs780217270
|
0.00004
|
NM_006767.4(LZTR1):c.2317G>A (p.Val773Met)
|
rs199586863
|
0.00004
|
NM_006767.4(LZTR1):c.23G>C (p.Gly8Ala)
|
rs764439278
|
0.00004
|
NM_006767.4(LZTR1):c.824G>A (p.Arg275Gln)
|
rs778001313
|
0.00004
|
NM_006767.4(LZTR1):c.946G>A (p.Val316Met)
|
rs370315661
|
0.00004
|
NM_003073.5(SMARCB1):c.978C>T (p.Tyr326=)
|
rs187488637
|
0.00003
|
NM_006767.4(LZTR1):c.1610G>A (p.Arg537Gln)
|
rs769150226
|
0.00003
|
NM_006767.4(LZTR1):c.506G>A (p.Gly169Glu)
|
rs751873839
|
0.00003
|
NM_006767.4(LZTR1):c.508C>T (p.Arg170Trp)
|
rs757502214
|
0.00003
|
NM_006767.4(LZTR1):c.667G>A (p.Glu223Lys)
|
rs369204535
|
0.00003
|
NM_006767.4(LZTR1):c.788A>G (p.Lys263Arg)
|
rs144573377
|
0.00003
|
NM_006767.4(LZTR1):c.989G>T (p.Ser330Ile)
|
rs376331457
|
0.00003
|
NM_000268.4(NF2):c.1447-11C>T
|
rs571246532
|
0.00002
|
NM_000268.4(NF2):c.515G>A (p.Arg172Lys)
|
rs752963731
|
0.00002
|
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)
|
rs137854550
|
0.00002
|
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala)
|
rs201247699
|
0.00002
|
NM_003073.5(SMARCB1):c.-149C>T
|
rs886057282
|
0.00002
|
NM_003073.5(SMARCB1):c.309C>T (p.Asn103=)
|
rs145695677
|
0.00002
|
NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr)
|
rs762962010
|
0.00002
|
NM_006767.4(LZTR1):c.1175C>T (p.Ala392Val)
|
rs767354230
|
0.00002
|
NM_006767.4(LZTR1):c.1384A>G (p.Ile462Val)
|
rs751597202
|
0.00002
|
NM_006767.4(LZTR1):c.1540C>T (p.Arg514Trp)
|
rs779673877
|
0.00002
|
NM_006767.4(LZTR1):c.1759G>A (p.Ala587Thr)
|
rs1305693117
|
0.00002
|
NM_006767.4(LZTR1):c.1794C>A (p.Cys598Ter)
|
rs982944299
|
0.00002
|
NM_006767.4(LZTR1):c.2063G>A (p.Arg688His)
|
rs535779363
|
0.00002
|
NM_006767.4(LZTR1):c.2191G>A (p.Glu731Lys)
|
rs377445349
|
0.00002
|
NM_006767.4(LZTR1):c.2263C>T (p.Arg755Trp)
|
rs141161152
|
0.00002
|
NM_006767.4(LZTR1):c.2326-6T>C
|
rs199965510
|
0.00002
|
NM_006767.4(LZTR1):c.344C>T (p.Pro115Leu)
|
rs756852884
|
0.00002
|
NM_006767.4(LZTR1):c.353G>A (p.Arg118His)
|
rs769001939
|
0.00002
|
NM_000268.4(NF2):c.1232G>A (p.Arg411His)
|
rs201214090
|
0.00001
|
NM_000268.4(NF2):c.1701C>G (p.Asp567Glu)
|
rs1049732514
|
0.00001
|
NM_000268.4(NF2):c.674G>A (p.Arg225Gln)
|
rs543087642
|
0.00001
|
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)
|
rs397514641
|
0.00001
|
NM_003073.5(SMARCB1):c.*279G>A
|
rs886057287
|
0.00001
|
NM_003073.5(SMARCB1):c.-83C>T
|
rs1374186002
|
0.00001
|
NM_006767.4(LZTR1):c.-38T>A
|
rs1459786357
|
0.00001
|
NM_006767.4(LZTR1):c.1001G>C (p.Gly334Ala)
|
rs777494767
|
0.00001
|
NM_006767.4(LZTR1):c.1104C>G (p.Asp368Glu)
|
rs1271934002
|
0.00001
|
NM_006767.4(LZTR1):c.115G>T (p.Glu39Ter)
|
rs762434811
|
0.00001
|
NM_006767.4(LZTR1):c.1260+1G>A
|
rs143868364
|
0.00001
|
NM_006767.4(LZTR1):c.1261-2A>G
|
rs759240190
|
0.00001
|
NM_006767.4(LZTR1):c.1304G>A (p.Arg435Gln)
|
rs1157807812
|
0.00001
|
NM_006767.4(LZTR1):c.1330G>A (p.Asp444Asn)
|
rs775051211
|
0.00001
|
NM_006767.4(LZTR1):c.1365C>T (p.Cys455=)
|
rs1386837360
|
0.00001
|
NM_006767.4(LZTR1):c.1615G>A (p.Gly539Ser)
|
rs1232362523
|
0.00001
|
NM_006767.4(LZTR1):c.1717T>C (p.Ser573Pro)
|
rs1269824662
|
0.00001
|
NM_006767.4(LZTR1):c.1733_1734del (p.Asn578fs)
|
rs1460026299
|
0.00001
|
NM_006767.4(LZTR1):c.1785+1G>A
|
rs145594158
|
0.00001
|
NM_006767.4(LZTR1):c.1856G>A (p.Arg619His)
|
rs568213908
|
0.00001
|
NM_006767.4(LZTR1):c.1889G>A (p.Arg630Gln)
|
rs781776791
|
0.00001
|
NM_006767.4(LZTR1):c.1894A>C (p.Lys632Gln)
|
rs1353029152
|
0.00001
|
NM_006767.4(LZTR1):c.1912C>T (p.Arg638Cys)
|
rs1213535694
|
0.00001
|
NM_006767.4(LZTR1):c.1982G>A (p.Gly661Glu)
|
rs750582696
|
0.00001
|
NM_006767.4(LZTR1):c.2002G>T (p.Asp668Tyr)
|
rs776005012
|
0.00001
|
NM_006767.4(LZTR1):c.2075T>C (p.Phe692Ser)
|
rs766752047
|
0.00001
|
NM_006767.4(LZTR1):c.2101C>T (p.Pro701Ser)
|
rs1215936951
|
0.00001
|
NM_006767.4(LZTR1):c.2220-17C>A
|
rs1249726034
|
0.00001
|
NM_006767.4(LZTR1):c.2246A>G (p.Tyr749Cys)
|
rs755260815
|
0.00001
|
NM_006767.4(LZTR1):c.2296A>G (p.Met766Val)
|
rs766793703
|
0.00001
|
NM_006767.4(LZTR1):c.2309T>C (p.Val770Ala)
|
rs752880731
|
0.00001
|
NM_006767.4(LZTR1):c.2343C>G (p.Asp781Glu)
|
rs763193690
|
0.00001
|
NM_006767.4(LZTR1):c.2407-2A>G
|
rs1158550690
|
0.00001
|
NM_006767.4(LZTR1):c.2456A>C (p.Asp819Ala)
|
rs765969026
|
0.00001
|
NM_006767.4(LZTR1):c.2471T>C (p.Leu824Pro)
|
rs752239353
|
0.00001
|
NM_006767.4(LZTR1):c.263+1G>A
|
rs761241914
|
0.00001
|
NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu)
|
rs587777177
|
0.00001
|
NM_006767.4(LZTR1):c.401-2_401-1del
|
rs769200796
|
0.00001
|
NM_006767.4(LZTR1):c.465C>G (p.Tyr155Ter)
|
rs753295968
|
0.00001
|
NM_006767.4(LZTR1):c.509G>A (p.Arg170Gln)
|
rs781431741
|
0.00001
|
NM_006767.4(LZTR1):c.529del (p.Ala177fs)
|
rs558510095
|
0.00001
|
NM_006767.4(LZTR1):c.548A>T (p.Tyr183Phe)
|
rs538624569
|
0.00001
|
NM_006767.4(LZTR1):c.55G>C (p.Gly19Arg)
|
rs375788038
|
0.00001
|
NM_006767.4(LZTR1):c.594-2A>G
|
rs1374011263
|
0.00001
|
NM_006767.4(LZTR1):c.658C>T (p.Gln220Ter)
|
rs749437251
|
0.00001
|
NM_006767.4(LZTR1):c.671dup (p.Ser227fs)
|
rs1351226319
|
0.00001
|
NM_006767.4(LZTR1):c.784G>A (p.Asp262Asn)
|
rs772266158
|
0.00001
|
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)
|
rs797045165
|
0.00001
|
NM_006767.4(LZTR1):c.856G>A (p.Gly286Arg)
|
rs773016962
|
0.00001
|
NM_006767.4(LZTR1):c.993+1G>A
|
rs770368435
|
0.00001
|
NM_130439.3(MXI1):c.362C>T (p.Ala121Val)
|
rs137852604
|
0.00001
|
GRCh37/hg19 22q11.22-11.23(chr22:22893189-24177119)
|
|
|
NC_000022.11:g.(29668447_29671826)_(29681601_?)del
|
|
|
NM_000268.4(NF2):c.1192_1193del (p.Leu398fs)
|
|
|
NM_000268.4(NF2):c.1243A>G (p.Thr415Ala)
|
rs776970251
|
|
NM_000268.4(NF2):c.125_126insG (p.Gly43fs)
|
rs587776564
|
|
NM_000268.4(NF2):c.1340+1G>C
|
|
|
NM_000268.4(NF2):c.205_211del (p.Lys69fs)
|
rs587776565
|
|
NM_000268.4(NF2):c.215T>C (p.Val72Ala)
|
rs1260510937
|
|
NM_000268.4(NF2):c.285CTT[1] (p.Phe96del)
|
rs121434260
|
|
NM_000268.4(NF2):c.363+1G>A
|
rs1601583839
|
|
NM_000268.4(NF2):c.448-1G>A
|
rs2146966216
|
|
NM_000268.4(NF2):c.4G>T (p.Ala2Ser)
|
rs1601515682
|
|
NM_001042492.3(NF1):c.1721+3A>G
|
rs1057518904
|
|
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)
|
rs786202782
|
|
NM_001042492.3(NF1):c.1919C>T (p.Thr640Ile)
|
rs1555613573
|
|
NM_001042492.3(NF1):c.2182_2196delinsT (p.Val728fs)
|
rs1597712665
|
|
NM_001042492.3(NF1):c.2252-3T>G
|
rs1057518842
|
|
NM_001042492.3(NF1):c.2388del (p.Ala797fs)
|
rs1555614011
|
|
NM_001042492.3(NF1):c.2619_2622dup (p.Gly875Ter)
|
rs1597715477
|
|
NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr)
|
rs1555618516
|
|
NM_001042492.3(NF1):c.4724+1G>A
|
rs1555619056
|
|
NM_001042492.3(NF1):c.4875C>G (p.Tyr1625Ter)
|
rs1555533285
|
|
NM_001042492.3(NF1):c.5813-1G>A
|
rs1057518974
|
|
NM_001042492.3(NF1):c.6704+2del
|
rs1555534929
|
|
NM_001042492.3(NF1):c.6858C>T (p.Asn2286=)
|
rs2151559216
|
|
NM_001042492.3(NF1):c.7063-2A>G
|
rs1597851255
|
|
NM_001042492.3(NF1):c.7448_7457del (p.Pro2483fs)
|
rs1597859854
|
|
NM_001042492.3(NF1):c.7458-1G>C
|
rs1597862012
|
|
NM_003073.4(SMARCB1):c.-207-?_*338dup1703
|
|
|
NM_003073.4(SMARCB1):c.987-?_*338dup510
|
|
|
NM_003073.5(SMARCB1):c.*100C>G
|
rs1363655817
|
|
NM_003073.5(SMARCB1):c.*116dup
|
rs397897183
|
|
NM_003073.5(SMARCB1):c.*12_*14dup
|
rs779825754
|
|
NM_003073.5(SMARCB1):c.*197A>C
|
rs1306414841
|
|
NM_003073.5(SMARCB1):c.*307A>G
|
rs2030874248
|
|
NM_003073.5(SMARCB1):c.*82C>T
|
rs878854600
|
|
NM_003073.5(SMARCB1):c.-107A>G
|
rs886057284
|
|
NM_003073.5(SMARCB1):c.-157G>A
|
rs886057281
|
|
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del)
|
rs875989800
|
|
NM_003073.5(SMARCB1):c.10del (p.Met4fs)
|
|
|
NM_003073.5(SMARCB1):c.1118+2T>C
|
|
|
NM_003073.5(SMARCB1):c.1118+8T>C
|
rs2030796889
|
|
NM_003073.5(SMARCB1):c.143C>T (p.Pro48Leu)
|
rs387906811
|
|
NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu)
|
rs779769475
|
|
NM_003073.5(SMARCB1):c.203_216delinsTACC (p.His68fs)
|
rs587776679
|
|
NM_003073.5(SMARCB1):c.233-2_237del
|
|
|
NM_003073.5(SMARCB1):c.307_346del (p.Asn103fs)
|
rs2145964108
|
|
NM_003073.5(SMARCB1):c.34C>T (p.Gln12Ter)
|
rs74315513
|
|
NM_003073.5(SMARCB1):c.364G>T (p.Glu122Ter)
|
rs1929106223
|
|
NM_003073.5(SMARCB1):c.500+883T>G
|
rs2145980559
|
|
NM_003073.5(SMARCB1):c.500+887G>A
|
rs2145980562
|
|
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp)
|
rs1601405064
|
|
NM_003073.5(SMARCB1):c.629-361_795+2103dup
|
|
|
NM_003073.5(SMARCB1):c.633G>A (p.Lys211=)
|
rs1930218305
|
|
NM_003073.5(SMARCB1):c.723C>T (p.Ile241=)
|
rs752910574
|
|
NM_003073.5(SMARCB1):c.747dup (p.Thr250fs)
|
rs2146010204
|
|
NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val)
|
rs267607072
|
|
NM_003073.5(SMARCB1):c.987-4G>C
|
rs745773662
|
|
NM_006767.4(LZTR1):c.1031C>A (p.Ser344Tyr)
|
|
|
NM_006767.4(LZTR1):c.1033G>T (p.Glu345Ter)
|
rs761956867
|
|
NM_006767.4(LZTR1):c.1063C>T (p.Arg355Trp)
|
|
|
NM_006767.4(LZTR1):c.1078A>T (p.Lys360Ter)
|
rs751308379
|
|
NM_006767.4(LZTR1):c.1113del (p.Thr372fs)
|
|
|
NM_006767.4(LZTR1):c.1124A>G (p.Lys375Arg)
|
rs2147965561
|
|
NM_006767.4(LZTR1):c.1149+1G>T
|
|
|
NM_006767.4(LZTR1):c.1149+3A>T
|
rs542715642
|
|
NM_006767.4(LZTR1):c.1149G>C (p.Glu383Asp)
|
|
|
NM_006767.4(LZTR1):c.1204A>G (p.Ile402Val)
|
|
|
NM_006767.4(LZTR1):c.1229A>G (p.Asn410Ser)
|
|
|
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys)
|
rs747430075
|
|
NM_006767.4(LZTR1):c.1235G>A (p.Arg412His)
|
rs935736801
|
|
NM_006767.4(LZTR1):c.1245_1246del (p.Glu415fs)
|
|
|
NM_006767.4(LZTR1):c.1260+5G>C
|
|
|
NM_006767.4(LZTR1):c.1260G>A (p.Gln420=)
|
|
|
NM_006767.4(LZTR1):c.1261-1G>T
|
|
|
NM_006767.4(LZTR1):c.1272C>G (p.Tyr424Ter)
|
|
|
NM_006767.4(LZTR1):c.1289A>C (p.His430Pro)
|
|
|
NM_006767.4(LZTR1):c.1353+1G>T
|
|
|
NM_006767.4(LZTR1):c.1353G>C (p.Glu451Asp)
|
|
|
NM_006767.4(LZTR1):c.1354-2A>G
|
|
|
NM_006767.4(LZTR1):c.1365C>A (p.Cys455Ter)
|
|
|
NM_006767.4(LZTR1):c.1373dup (p.His459fs)
|
rs1924703709
|
|
NM_006767.4(LZTR1):c.1397G>T (p.Arg466Leu)
|
rs587777180
|
|
NM_006767.4(LZTR1):c.1412G>C (p.Arg471Pro)
|
rs139031749
|
|
NM_006767.4(LZTR1):c.1426del (p.Gln476fs)
|
|
|
NM_006767.4(LZTR1):c.1449+2T>G
|
|
|
NM_006767.4(LZTR1):c.1461G>T (p.Gln487His)
|
|
|
NM_006767.4(LZTR1):c.1462G>T (p.Glu488Ter)
|
|
|
NM_006767.4(LZTR1):c.1466C>G (p.Ala489Gly)
|
|
|
NM_006767.4(LZTR1):c.1486_1487delinsTA (p.Ala496Tyr)
|
rs2147967267
|
|
NM_006767.4(LZTR1):c.1513C>G (p.Arg505Gly)
|
rs770974858
|
|
NM_006767.4(LZTR1):c.1513C>T (p.Arg505Trp)
|
rs770974858
|
|
NM_006767.4(LZTR1):c.1516C>T (p.Pro506Ser)
|
|
|
NM_006767.4(LZTR1):c.1556_1560dup (p.Phe521fs)
|
rs1924721014
|
|
NM_006767.4(LZTR1):c.1559C>T (p.Pro520Leu)
|
rs1569157089
|
|
NM_006767.4(LZTR1):c.1615+2T>C
|
|
|
NM_006767.4(LZTR1):c.1616-1G>A
|
|
|
NM_006767.4(LZTR1):c.1616-2_1616-1delinsCC
|
|
|
NM_006767.4(LZTR1):c.1616-9G>A
|
|
|
NM_006767.4(LZTR1):c.1620T>C (p.His540=)
|
rs141610191
|
|
NM_006767.4(LZTR1):c.1648G>A (p.Val550Met)
|
|
|
NM_006767.4(LZTR1):c.1663C>G (p.Leu555Val)
|
rs956463805
|
|
NM_006767.4(LZTR1):c.1666A>G (p.Ser556Gly)
|
|
|
NM_006767.4(LZTR1):c.1692G>T (p.Gln564His)
|
|
|
NM_006767.4(LZTR1):c.1700G>A (p.Arg567His)
|
rs372417941
|
|
NM_006767.4(LZTR1):c.1702C>T (p.Gln568Ter)
|
|
|
NM_006767.4(LZTR1):c.1734C>A (p.Asn578Lys)
|
|
|
NM_006767.4(LZTR1):c.1777C>T (p.Gln593Ter)
|
|
|
NM_006767.4(LZTR1):c.1785+1G>T
|
|
|
NM_006767.4(LZTR1):c.1802del (p.Phe601fs)
|
|
|
NM_006767.4(LZTR1):c.1834A>T (p.Ile612Phe)
|
|
|
NM_006767.4(LZTR1):c.1842del (p.Met614fs)
|
|
|
NM_006767.4(LZTR1):c.1846G>A (p.Glu616Lys)
|
|
|
NM_006767.4(LZTR1):c.184del (p.Glu62fs)
|
|
|
NM_006767.4(LZTR1):c.1863_1897del (p.Ser622fs)
|
|
|
NM_006767.4(LZTR1):c.1876_1883dup (p.Ile628fs)
|
|
|
NM_006767.4(LZTR1):c.1888C>T (p.Arg630Trp)
|
rs750813513
|
|
NM_006767.4(LZTR1):c.1893del (p.Lys632fs)
|
|
|
NM_006767.4(LZTR1):c.18_30del (p.Ser6fs)
|
|
|
NM_006767.4(LZTR1):c.1901A>C (p.Gln634Pro)
|
rs770312150
|
|
NM_006767.4(LZTR1):c.1942G>T (p.Gly648Cys)
|
rs1417500183
|
|
NM_006767.4(LZTR1):c.1943-7C>A
|
|
|
NM_006767.4(LZTR1):c.1952T>G (p.Leu651Arg)
|
|
|
NM_006767.4(LZTR1):c.1957C>T (p.Gln653Ter)
|
rs760312637
|
|
NM_006767.4(LZTR1):c.1967A>G (p.Lys656Arg)
|
|
|
NM_006767.4(LZTR1):c.1993G>A (p.Glu665Lys)
|
|
|
NM_006767.4(LZTR1):c.200+1G>C
|
|
|
NM_006767.4(LZTR1):c.200+3A>G
|
|
|
NM_006767.4(LZTR1):c.2009C>T (p.Thr670Ile)
|
|
|
NM_006767.4(LZTR1):c.201-1G>A
|
|
|
NM_006767.4(LZTR1):c.2011_2012del (p.Leu671fs)
|
|
|
NM_006767.4(LZTR1):c.202C>A (p.Arg68Ser)
|
rs886041418
|
|
NM_006767.4(LZTR1):c.2042A>G (p.His681Arg)
|
rs766706053
|
|
NM_006767.4(LZTR1):c.2045A>G (p.Lys682Arg)
|
|
|
NM_006767.4(LZTR1):c.2069+1G>A
|
|
|
NM_006767.4(LZTR1):c.2070-7T>A
|
|
|
NM_006767.4(LZTR1):c.2073C>G (p.Tyr691Ter)
|
|
|
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln)
|
rs370638947
|
|
NM_006767.4(LZTR1):c.2093C>T (p.Ser698Phe)
|
rs760064852
|
|
NM_006767.4(LZTR1):c.2105A>G (p.Glu702Gly)
|
rs2147969594
|
|
NM_006767.4(LZTR1):c.2122A>T (p.Ile708Phe)
|
|
|
NM_006767.4(LZTR1):c.212A>G (p.His71Arg)
|
|
|
NM_006767.4(LZTR1):c.2134G>C (p.Glu712Gln)
|
rs1409419929
|
|
NM_006767.4(LZTR1):c.2134G>T (p.Glu712Ter)
|
rs1409419929
|
|
NM_006767.4(LZTR1):c.2152C>T (p.Gln718Ter)
|
rs767482247
|
|
NM_006767.4(LZTR1):c.2220-24G>A
|
|
|
NM_006767.4(LZTR1):c.2239_2242del (p.Tyr747fs)
|
|
|
NM_006767.4(LZTR1):c.2269C>T (p.Gln757Ter)
|
|
|
NM_006767.4(LZTR1):c.2284C>T (p.Gln762Ter)
|
rs1924868328
|
|
NM_006767.4(LZTR1):c.22G>C (p.Gly8Arg)
|
rs575193991
|
|
NM_006767.4(LZTR1):c.22G>T (p.Gly8Trp)
|
rs575193991
|
|
NM_006767.4(LZTR1):c.2316C>G (p.Asn772Lys)
|
rs140327903
|
|
NM_006767.4(LZTR1):c.2325+1G>A
|
|
|
NM_006767.4(LZTR1):c.2325G>T (p.Gln775His)
|
|
|
NM_006767.4(LZTR1):c.2348_2351del (p.Thr783fs)
|
rs587777179
|
|
NM_006767.4(LZTR1):c.2380C>T (p.His794Tyr)
|
|
|
NM_006767.4(LZTR1):c.2406G>A (p.Lys802=)
|
|
|
NM_006767.4(LZTR1):c.2437A>G (p.Ser813Gly)
|
rs1311281590
|
|
NM_006767.4(LZTR1):c.2468C>T (p.Ser823Phe)
|
|
|
NM_006767.4(LZTR1):c.248T>C (p.Phe83Ser)
|
|
|
NM_006767.4(LZTR1):c.2507T>C (p.Leu836Pro)
|
|
|
NM_006767.4(LZTR1):c.262G>A (p.Gly88Arg)
|
|
|
NM_006767.4(LZTR1):c.263+3G>C
|
|
|
NM_006767.4(LZTR1):c.263G>T (p.Gly88Val)
|
rs1051725799
|
|
NM_006767.4(LZTR1):c.264-1G>A
|
|
|
NM_006767.4(LZTR1):c.26G>A (p.Gly9Glu)
|
|
|
NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala)
|
rs756485244
|
|
NM_006767.4(LZTR1):c.27del (p.Gln10fs)
|
rs587777613
|
|
NM_006767.4(LZTR1):c.27dup (p.Gln10fs)
|
rs587777613
|
|
NM_006767.4(LZTR1):c.320+1G>A
|
rs943939913
|
|
NM_006767.4(LZTR1):c.320+1del
|
rs1569153870
|
|
NM_006767.4(LZTR1):c.320+213C>G
|
|
|
NM_006767.4(LZTR1):c.320+5G>A
|
rs1555927336
|
|
NM_006767.4(LZTR1):c.352del (p.Arg118fs)
|
rs1486960809
|
|
NM_006767.4(LZTR1):c.352dup (p.Arg118fs)
|
rs1486960809
|
|
NM_006767.4(LZTR1):c.365C>G (p.Ser122Trp)
|
|
|
NM_006767.4(LZTR1):c.372_385del (p.Val125fs)
|
rs1924439391
|
|
NM_006767.4(LZTR1):c.394delinsAA (p.Val132fs)
|
|
|
NM_006767.4(LZTR1):c.400+197G>T
|
|
|
NM_006767.4(LZTR1):c.400G>C (p.Gly134Arg)
|
rs1440693988
|
|
NM_006767.4(LZTR1):c.401-1G>A
|
|
|
NM_006767.4(LZTR1):c.401-2A>C
|
|
|
NM_006767.4(LZTR1):c.401-5C>G
|
|
|
NM_006767.4(LZTR1):c.404G>C (p.Gly135Ala)
|
|
|
NM_006767.4(LZTR1):c.451G>A (p.Asp151Asn)
|
|
|
NM_006767.4(LZTR1):c.46del (p.Leu16fs)
|
rs35574094
|
|
NM_006767.4(LZTR1):c.486G>A (p.Trp162Ter)
|
rs1569154722
|
|
NM_006767.4(LZTR1):c.499A>C (p.Ile167Leu)
|
|
|
NM_006767.4(LZTR1):c.49G>A (p.Ala17Thr)
|
|
|
NM_006767.4(LZTR1):c.537_538del (p.Ala180fs)
|
|
|
NM_006767.4(LZTR1):c.565A>G (p.Ile189Val)
|
|
|
NM_006767.4(LZTR1):c.578A>G (p.Tyr193Cys)
|
rs1870169267
|
|
NM_006767.4(LZTR1):c.583G>A (p.Gly195Ser)
|
|
|
NM_006767.4(LZTR1):c.604_605del (p.Met202fs)
|
|
|
NM_006767.4(LZTR1):c.651+1G>A
|
|
|
NM_006767.4(LZTR1):c.652-116A>G
|
|
|
NM_006767.4(LZTR1):c.671_672insG (p.Ile224fs)
|
|
|
NM_006767.4(LZTR1):c.672C>G (p.Ile224Met)
|
|
|
NM_006767.4(LZTR1):c.680C>T (p.Ser227Phe)
|
|
|
NM_006767.4(LZTR1):c.684C>A (p.Cys228Ter)
|
|
|
NM_006767.4(LZTR1):c.708C>A (p.Cys236Ter)
|
rs2147964053
|
|
NM_006767.4(LZTR1):c.709C>T (p.Arg237Trp)
|
rs146197956
|
|
NM_006767.4(LZTR1):c.719T>C (p.Met240Thr)
|
|
|
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)
|
rs869320686
|
|
NM_006767.4(LZTR1):c.774del (p.Phe258fs)
|
rs780267761
|
|
NM_006767.4(LZTR1):c.791+1G>A
|
rs148031742
|
|
NM_006767.4(LZTR1):c.791+1G>C
|
rs148031742
|
|
NM_006767.4(LZTR1):c.791+1G>T
|
|
|
NM_006767.4(LZTR1):c.80G>C (p.Ser27Thr)
|
rs776383010
|
|
NM_006767.4(LZTR1):c.847C>T (p.Arg283Trp)
|
rs1346699262
|
|
NM_006767.4(LZTR1):c.890_891del (p.Tyr297fs)
|
rs767445373
|
|
NM_006767.4(LZTR1):c.923C>T (p.Pro308Leu)
|
rs764464803
|
|
NM_006767.4(LZTR1):c.937T>A (p.Cys313Ser)
|
|
|
NM_006767.4(LZTR1):c.957G>T (p.Gln319His)
|
rs1014327605
|
|
NM_006767.4(LZTR1):c.978_985del (p.Ser327fs)
|
|
|
NM_006767.4(LZTR1):c.985G>A (p.Asp329Asn)
|
|
|
NM_006767.4(LZTR1):c.993+1G>T
|
rs770368435
|
|
NM_006767.4(LZTR1):c.994-1G>A
|
|
|
NM_006767.4(LZTR1):c.994-1G>T
|
rs758238174
|
|