NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)
|
rs201587138
|
0.00069
|
NM_001384474.1(LOXHD1):c.6363C>A (p.Cys2121Ter)
|
rs754765193
|
0.00008
|
NM_001384474.1(LOXHD1):c.3061+1G>A
|
rs537227442
|
0.00006
|
NM_001384474.1(LOXHD1):c.4376-2A>G
|
rs886043616
|
0.00006
|
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu)
|
rs763915229
|
0.00006
|
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter)
|
rs188119157
|
0.00003
|
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter)
|
rs886044666
|
0.00003
|
NM_001384474.1(LOXHD1):c.71del (p.Leu24fs)
|
rs775267638
|
0.00003
|
NM_001384474.1(LOXHD1):c.1468C>T (p.Arg490Ter)
|
rs527536011
|
0.00002
|
NM_001384474.1(LOXHD1):c.4212+1G>A
|
rs889110926
|
0.00002
|
NM_001384474.1(LOXHD1):c.6130C>T (p.Arg2044Ter)
|
rs1306586204
|
0.00002
|
NM_001384474.1(LOXHD1):c.757C>T (p.Gln253Ter)
|
rs909435840
|
0.00002
|
NM_001384474.1(LOXHD1):c.1021C>T (p.Arg341Ter)
|
rs931911802
|
0.00001
|
NM_001384474.1(LOXHD1):c.1121G>A (p.Trp374Ter)
|
rs368299751
|
0.00001
|
NM_001384474.1(LOXHD1):c.1462A>T (p.Lys488Ter)
|
rs1296722565
|
0.00001
|
NM_001384474.1(LOXHD1):c.1538del (p.Leu513fs)
|
rs1568206162
|
0.00001
|
NM_001384474.1(LOXHD1):c.1554C>A (p.Tyr518Ter)
|
rs774587517
|
0.00001
|
NM_001384474.1(LOXHD1):c.2008C>T (p.Arg670Ter)
|
rs121918370
|
0.00001
|
NM_001384474.1(LOXHD1):c.2860G>T (p.Glu954Ter)
|
rs2037491872
|
0.00001
|
NM_001384474.1(LOXHD1):c.3061C>T (p.Arg1021Ter)
|
rs963520367
|
0.00001
|
NM_001384474.1(LOXHD1):c.3169C>T (p.Arg1057Ter)
|
rs727505104
|
0.00001
|
NM_001384474.1(LOXHD1):c.3350+1G>T
|
rs1301706601
|
0.00001
|
NM_001384474.1(LOXHD1):c.3475del (p.Asp1159fs)
|
rs1220271750
|
0.00001
|
NM_001384474.1(LOXHD1):c.4282C>T (p.Arg1428Ter)
|
rs932266011
|
0.00001
|
NM_001384474.1(LOXHD1):c.4299T>A (p.Tyr1433Ter)
|
rs1467160997
|
0.00001
|
NM_001384474.1(LOXHD1):c.4476_4477insT (p.Glu1493Ter)
|
rs763478051
|
0.00001
|
NM_001384474.1(LOXHD1):c.4741-1G>A
|
rs1057524755
|
0.00001
|
NM_001384474.1(LOXHD1):c.4794_4795insTC (p.Ile1599fs)
|
rs1598914701
|
0.00001
|
NM_001384474.1(LOXHD1):c.4936C>T (p.Arg1646Ter)
|
rs960741408
|
0.00001
|
NM_001384474.1(LOXHD1):c.4989G>A (p.Trp1663Ter)
|
rs1223508098
|
0.00001
|
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter)
|
rs961865375
|
0.00001
|
NM_001384474.1(LOXHD1):c.5295G>A (p.Trp1765Ter)
|
rs1364064979
|
0.00001
|
NM_001384474.1(LOXHD1):c.5963G>A (p.Trp1988Ter)
|
rs1598827107
|
0.00001
|
NM_001384474.1(LOXHD1):c.963T>G (p.Tyr321Ter)
|
rs1317610566
|
0.00001
|
NC_000018.10:g.46557485TCTG[1]
|
|
|
NC_000018.10:g.46656909_46657366del
|
rs2144417850
|
|
NC_000018.9:g.(?_44063540)_(44065124_?)del
|
|
|
NC_000018.9:g.(?_44087491)_(44089788_?)del
|
|
|
NC_000018.9:g.(?_44121729)_(44127031_?)del
|
|
|
NC_000018.9:g.(?_44125270)_(44184202_?)del
|
|
|
NC_000018.9:g.(?_44137309)_(44140518_?)del
|
|
|
NC_000018.9:g.(?_44139401)_(44143198_?)del
|
|
|
NC_000018.9:g.(?_44143018)_(44143198_?)del
|
|
|
NC_000018.9:g.(?_44190729)_(44190897_?)del
|
|
|
NM_001384474.1(LOXHD1):c.100G>T (p.Glu34Ter)
|
|
|
NM_001384474.1(LOXHD1):c.1072_1073del (p.Leu358fs)
|
rs2038332961
|
|
NM_001384474.1(LOXHD1):c.1072del (p.Pro357_Leu358insTer)
|
|
|
NM_001384474.1(LOXHD1):c.1077_1096del (p.Ser359fs)
|
|
|
NM_001384474.1(LOXHD1):c.1135-1G>A
|
|
|
NM_001384474.1(LOXHD1):c.1168C>T (p.Gln390Ter)
|
rs2038226312
|
|
NM_001384474.1(LOXHD1):c.1205_1206del (p.Lys402fs)
|
rs2144246928
|
|
NM_001384474.1(LOXHD1):c.120C>G (p.Tyr40Ter)
|
|
|
NM_001384474.1(LOXHD1):c.1228C>T (p.Gln410Ter)
|
rs777587826
|
|
NM_001384474.1(LOXHD1):c.1236T>G (p.Tyr412Ter)
|
rs1203046811
|
|
NM_001384474.1(LOXHD1):c.1354C>T (p.Gln452Ter)
|
rs2038212764
|
|
NM_001384474.1(LOXHD1):c.1461T>A (p.Tyr487Ter)
|
|
|
NM_001384474.1(LOXHD1):c.1475G>A (p.Trp492Ter)
|
rs2038190712
|
|
NM_001384474.1(LOXHD1):c.1476G>A (p.Trp492Ter)
|
|
|
NM_001384474.1(LOXHD1):c.1506G>A (p.Trp502Ter)
|
rs1599034650
|
|
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs)
|
rs1555683951
|
|
NM_001384474.1(LOXHD1):c.1568del (p.Asn523fs)
|
|
|
NM_001384474.1(LOXHD1):c.1576_1579del (p.Leu526fs)
|
|
|
NM_001384474.1(LOXHD1):c.1607_1610del (p.Val536fs)
|
|
|
NM_001384474.1(LOXHD1):c.1802del (p.Lys601fs)
|
|
|
NM_001384474.1(LOXHD1):c.1816G>T (p.Glu606Ter)
|
|
|
NM_001384474.1(LOXHD1):c.1843_1849del (p.Met614_Arg615insTer)
|
|
|
NM_001384474.1(LOXHD1):c.1883del (p.Gly628fs)
|
rs2144134463
|
|
NM_001384474.1(LOXHD1):c.1906del (p.Asp636fs)
|
rs1190328421
|
|
NM_001384474.1(LOXHD1):c.1908del (p.Asp636fs)
|
rs2144134166
|
|
NM_001384474.1(LOXHD1):c.1971-2A>G
|
|
|
NM_001384474.1(LOXHD1):c.1973G>A (p.Trp658Ter)
|
|
|
NM_001384474.1(LOXHD1):c.2052del (p.Arg685fs)
|
rs1198947482
|
|
NM_001384474.1(LOXHD1):c.2150del (p.Lys717fs)
|
|
|
NM_001384474.1(LOXHD1):c.2235_2242del (p.Asn745fs)
|
|
|
NM_001384474.1(LOXHD1):c.2289del (p.Ser764fs)
|
rs2144060522
|
|
NM_001384474.1(LOXHD1):c.229dup (p.Leu77fs)
|
rs2144399576
|
|
NM_001384474.1(LOXHD1):c.2303del (p.Gly768fs)
|
rs727503146
|
|
NM_001384474.1(LOXHD1):c.2329C>T (p.Gln777Ter)
|
rs2144060132
|
|
NM_001384474.1(LOXHD1):c.232del (p.Gln78fs)
|
rs1248034407
|
|
NM_001384474.1(LOXHD1):c.2401G>T (p.Glu801Ter)
|
rs770068342
|
|
NM_001384474.1(LOXHD1):c.2416G>T (p.Glu806Ter)
|
rs1368527802
|
|
NM_001384474.1(LOXHD1):c.2431C>T (p.Gln811Ter)
|
rs2144059286
|
|
NM_001384474.1(LOXHD1):c.246-1G>A
|
|
|
NM_001384474.1(LOXHD1):c.246-1G>T
|
|
|
NM_001384474.1(LOXHD1):c.2551_2552del (p.Ser851fs)
|
|
|
NM_001384474.1(LOXHD1):c.2596C>T (p.Gln866Ter)
|
rs2144035251
|
|
NM_001384474.1(LOXHD1):c.2638_2642del (p.Leu880fs)
|
|
|
NM_001384474.1(LOXHD1):c.2641G>A (p.Gly881Arg)
|
|
|
NM_001384474.1(LOXHD1):c.2645_2652del (p.His882fs)
|
|
|
NM_001384474.1(LOXHD1):c.2667del (p.Ser890fs)
|
rs2037500230
|
|
NM_001384474.1(LOXHD1):c.2691G>A (p.Trp897Ter)
|
rs2144015428
|
|
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro)
|
rs745683775
|
|
NM_001384474.1(LOXHD1):c.2713G>T (p.Glu905Ter)
|
|
|
NM_001384474.1(LOXHD1):c.2737G>T (p.Glu913Ter)
|
|
|
NM_001384474.1(LOXHD1):c.2767del (p.Leu923fs)
|
|
|
NM_001384474.1(LOXHD1):c.2773C>T (p.Gln925Ter)
|
rs2037495535
|
|
NM_001384474.1(LOXHD1):c.2815A>T (p.Lys939Ter)
|
|
|
NM_001384474.1(LOXHD1):c.2863G>T (p.Glu955Ter)
|
rs548893604
|
|
NM_001384474.1(LOXHD1):c.2870C>A (p.Ser957Ter)
|
rs1440105492
|
|
NM_001384474.1(LOXHD1):c.2879C>A (p.Ser960Ter)
|
rs1290539447
|
|
NM_001384474.1(LOXHD1):c.2879C>G (p.Ser960Ter)
|
|
|
NM_001384474.1(LOXHD1):c.2913dup (p.Glu972fs)
|
rs974766727
|
|
NM_001384474.1(LOXHD1):c.2977G>T (p.Glu993Ter)
|
|
|
NM_001384474.1(LOXHD1):c.3053del (p.Gly1018fs)
|
|
|
NM_001384474.1(LOXHD1):c.3061+1G>C
|
|
|
NM_001384474.1(LOXHD1):c.3072T>A (p.Tyr1024Ter)
|
|
|
NM_001384474.1(LOXHD1):c.3079C>T (p.Gln1027Ter)
|
|
|
NM_001384474.1(LOXHD1):c.3094_3095insT (p.Asn1032fs)
|
rs2144003933
|
|
NM_001384474.1(LOXHD1):c.3148G>T (p.Glu1050Ter)
|
rs1555679863
|
|
NM_001384474.1(LOXHD1):c.3182del (p.Lys1061fs)
|
|
|
NM_001384474.1(LOXHD1):c.3247del (p.Leu1083fs)
|
rs2143975906
|
|
NM_001384474.1(LOXHD1):c.3330_3333del (p.Thr1110_Asp1111insTer)
|
rs2143974313
|
|
NM_001384474.1(LOXHD1):c.3351-1G>A
|
rs868646051
|
|
NM_001384474.1(LOXHD1):c.3351-1G>C
|
rs868646051
|
|
NM_001384474.1(LOXHD1):c.3375G>A (p.Trp1125Ter)
|
|
|
NM_001384474.1(LOXHD1):c.3401_3404dup (p.Ser1136fs)
|
rs2143824066
|
|
NM_001384474.1(LOXHD1):c.3419dup (p.Leu1140fs)
|
|
|
NM_001384474.1(LOXHD1):c.3505G>T (p.Glu1169Ter)
|
rs2143821653
|
|
NM_001384474.1(LOXHD1):c.3519del (p.Lys1173fs)
|
|
|
NM_001384474.1(LOXHD1):c.3521_3522delinsGA (p.Ser1174Ter)
|
|
|
NM_001384474.1(LOXHD1):c.3549_3550del (p.Gly1184_Val1185insTer)
|
|
|
NM_001384474.1(LOXHD1):c.3570_3571insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGAATGCGGGC (p.Thr1191fs)
|
rs2144401197
|
|
NM_001384474.1(LOXHD1):c.3573del (p.Asp1192fs)
|
rs2144401070
|
|
NM_001384474.1(LOXHD1):c.3584del (p.Val1195fs)
|
|
|
NM_001384474.1(LOXHD1):c.3619G>T (p.Gly1207Ter)
|
|
|
NM_001384474.1(LOXHD1):c.3748+1G>A
|
|
|
NM_001384474.1(LOXHD1):c.3748+1G>C
|
rs2144370278
|
|
NM_001384474.1(LOXHD1):c.3748+1_3748+3del
|
|
|
NM_001384474.1(LOXHD1):c.3765G>A (p.Trp1255Ter)
|
|
|
NM_001384474.1(LOXHD1):c.3781G>T (p.Glu1261Ter)
|
rs2144361735
|
|
NM_001384474.1(LOXHD1):c.3847G>T (p.Glu1283Ter)
|
rs373541883
|
|
NM_001384474.1(LOXHD1):c.3854_3857dup (p.Ser1287fs)
|
|
|
NM_001384474.1(LOXHD1):c.3916_3922del (p.Val1306fs)
|
rs1419749403
|
|
NM_001384474.1(LOXHD1):c.3924C>A (p.Tyr1308Ter)
|
rs184966970
|
|
NM_001384474.1(LOXHD1):c.3934del (p.Leu1312fs)
|
|
|
NM_001384474.1(LOXHD1):c.4005del (p.Val1336fs)
|
rs35449699
|
|
NM_001384474.1(LOXHD1):c.4048C>T (p.Gln1350Ter)
|
|
|
NM_001384474.1(LOXHD1):c.4099G>T (p.Glu1367Ter)
|
rs373937326
|
|
NM_001384474.1(LOXHD1):c.4126dup (p.Ile1376fs)
|
rs2144280231
|
|
NM_001384474.1(LOXHD1):c.4222_4223insGCTTCACCGGCGCAGTCATTCTCATAATCGCCCACGGA (p.Thr1408fs)
|
rs2144267356
|
|
NM_001384474.1(LOXHD1):c.4239C>A (p.Cys1413Ter)
|
|
|
NM_001384474.1(LOXHD1):c.423_427del (p.Asn141fs)
|
rs1423265088
|
|
NM_001384474.1(LOXHD1):c.4247G>A (p.Trp1416Ter)
|
rs2036157162
|
|
NM_001384474.1(LOXHD1):c.4345del (p.Val1449fs)
|
|
|
NM_001384474.1(LOXHD1):c.4386C>G (p.Tyr1462Ter)
|
rs2144221933
|
|
NM_001384474.1(LOXHD1):c.4393C>T (p.Gln1465Ter)
|
|
|
NM_001384474.1(LOXHD1):c.4413del (p.Pro1472fs)
|
rs1407136283
|
|
NM_001384474.1(LOXHD1):c.4426del (p.Thr1476fs)
|
|
|
NM_001384474.1(LOXHD1):c.4477G>T (p.Glu1493Ter)
|
rs1166673793
|
|
NM_001384474.1(LOXHD1):c.4477dup (p.Glu1493fs)
|
|
|
NM_001384474.1(LOXHD1):c.4480_4481dup (p.Tyr1495fs)
|
rs2144220255
|
|
NM_001384474.1(LOXHD1):c.4529del (p.Thr1510fs)
|
rs2144219491
|
|
NM_001384474.1(LOXHD1):c.4607G>A (p.Trp1536Ter)
|
|
|
NM_001384474.1(LOXHD1):c.460del (p.Gln154fs)
|
|
|
NM_001384474.1(LOXHD1):c.4611C>A (p.Cys1537Ter)
|
|
|
NM_001384474.1(LOXHD1):c.4627del (p.Glu1543fs)
|
rs2144169642
|
|
NM_001384474.1(LOXHD1):c.465G>A (p.Trp155Ter)
|
|
|
NM_001384474.1(LOXHD1):c.4663G>T (p.Glu1555Ter)
|
rs1164686618
|
|
NM_001384474.1(LOXHD1):c.4683dup (p.Arg1562fs)
|
rs1409994676
|
|
NM_001384474.1(LOXHD1):c.469dup (p.Arg157fs)
|
rs1290471450
|
|
NM_001384474.1(LOXHD1):c.46del (p.Leu16fs)
|
rs1599083635
|
|
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter)
|
rs75949023
|
|
NM_001384474.1(LOXHD1):c.4721del (p.Glu1574fs)
|
|
|
NM_001384474.1(LOXHD1):c.4843G>A (p.Gly1615Arg)
|
rs768835732
|
|
NM_001384474.1(LOXHD1):c.4887C>A (p.Tyr1629Ter)
|
rs2144138527
|
|
NM_001384474.1(LOXHD1):c.488del (p.Phe163fs)
|
|
|
NM_001384474.1(LOXHD1):c.4921del (p.Ala1641fs)
|
rs1598909510
|
|
NM_001384474.1(LOXHD1):c.4960del (p.Glu1654fs)
|
|
|
NM_001384474.1(LOXHD1):c.5023del (p.Arg1675fs)
|
rs770258999
|
|
NM_001384474.1(LOXHD1):c.5049_5050insT (p.Ala1684fs)
|
|
|
NM_001384474.1(LOXHD1):c.5066del (p.Gly1689fs)
|
|
|
NM_001384474.1(LOXHD1):c.5277del (p.Tyr1760fs)
|
|
|
NM_001384474.1(LOXHD1):c.5294G>A (p.Trp1765Ter)
|
rs1053524259
|
|
NM_001384474.1(LOXHD1):c.5295_5296insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATGACGGTGTGG (p.Thr1766delinsAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
NM_001384474.1(LOXHD1):c.5330del (p.Asn1777fs)
|
rs776345911
|
|
NM_001384474.1(LOXHD1):c.5346_5347del (p.Tyr1783fs)
|
|
|
NM_001384474.1(LOXHD1):c.5391_5392del (p.Lys1798fs)
|
|
|
NM_001384474.1(LOXHD1):c.5393_5394del (p.Lys1798fs)
|
rs2144083830
|
|
NM_001384474.1(LOXHD1):c.5437dup (p.Ile1813fs)
|
rs2143957245
|
|
NM_001384474.1(LOXHD1):c.5498_5499del (p.Pro1833fs)
|
|
|
NM_001384474.1(LOXHD1):c.5500G>T (p.Glu1834Ter)
|
|
|
NM_001384474.1(LOXHD1):c.5562C>A (p.Tyr1854Ter)
|
|
|
NM_001384474.1(LOXHD1):c.5574G>A (p.Trp1858Ter)
|
|
|
NM_001384474.1(LOXHD1):c.5574_5577del (p.Trp1858fs)
|
rs2143919227
|
|
NM_001384474.1(LOXHD1):c.5613_5614del (p.Glu1871fs)
|
rs2143918072
|
|
NM_001384474.1(LOXHD1):c.5674A>T (p.Lys1892Ter)
|
rs2143916424
|
|
NM_001384474.1(LOXHD1):c.5751del (p.Thr1918fs)
|
|
|
NM_001384474.1(LOXHD1):c.5764A>T (p.Lys1922Ter)
|
rs2143887823
|
|
NM_001384474.1(LOXHD1):c.5767C>T (p.Gln1923Ter)
|
rs377368588
|
|
NM_001384474.1(LOXHD1):c.5769_5775del (p.Ser1924fs)
|
|
|
NM_001384474.1(LOXHD1):c.5781G>A (p.Trp1927Ter)
|
|
|
NM_001384474.1(LOXHD1):c.57C>A (p.Tyr19Ter)
|
|
|
NM_001384474.1(LOXHD1):c.57C>G (p.Tyr19Ter)
|
|
|
NM_001384474.1(LOXHD1):c.5840del (p.Gly1947fs)
|
rs2034533882
|
|
NM_001384474.1(LOXHD1):c.5863del (p.Trp1955fs)
|
|
|
NM_001384474.1(LOXHD1):c.5865G>A (p.Trp1955Ter)
|
|
|
NM_001384474.1(LOXHD1):c.5907T>A (p.Tyr1969Ter)
|
rs1598827506
|
|
NM_001384474.1(LOXHD1):c.5921del (p.Asp1974fs)
|
|
|
NM_001384474.1(LOXHD1):c.5974_5975del (p.Lys1991_Ser1992insTer)
|
rs2033274775
|
|
NM_001384474.1(LOXHD1):c.5989C>T (p.Gln1997Ter)
|
rs2033273061
|
|
NM_001384474.1(LOXHD1):c.6054C>A (p.Tyr2018Ter)
|
|
|
NM_001384474.1(LOXHD1):c.6054C>G (p.Tyr2018Ter)
|
rs137944477
|
|
NM_001384474.1(LOXHD1):c.6074del (p.Gly2025fs)
|
rs1442485603
|
|
NM_001384474.1(LOXHD1):c.6080dup (p.Gly2028fs)
|
rs878853231
|
|
NM_001384474.1(LOXHD1):c.6083del (p.Gly2028fs)
|
|
|
NM_001384474.1(LOXHD1):c.6105G>A (p.Trp2035Ter)
|
|
|
NM_001384474.1(LOXHD1):c.6155del (p.Asn2052fs)
|
rs2143555720
|
|
NM_001384474.1(LOXHD1):c.6187del (p.Thr2063fs)
|
|
|
NM_001384474.1(LOXHD1):c.631G>T (p.Glu211Ter)
|
|
|
NM_001384474.1(LOXHD1):c.6341+2T>A
|
|
|
NM_001384474.1(LOXHD1):c.6357del (p.Cys2119fs)
|
rs2143430597
|
|
NM_001384474.1(LOXHD1):c.6373dup (p.Leu2125fs)
|
|
|
NM_001384474.1(LOXHD1):c.6404del (p.Phe2135fs)
|
rs2032164364
|
|
NM_001384474.1(LOXHD1):c.6425_6428del (p.Glu2142fs)
|
|
|
NM_001384474.1(LOXHD1):c.6427_6428del (p.Ser2143fs)
|
rs1478469981
|
|
NM_001384474.1(LOXHD1):c.6492T>G (p.Tyr2164Ter)
|
rs1434725624
|
|
NM_001384474.1(LOXHD1):c.6508_6515del (p.Thr2170fs)
|
rs1568061304
|
|
NM_001384474.1(LOXHD1):c.6541del (p.Ala2181fs)
|
rs2143422217
|
|
NM_001384474.1(LOXHD1):c.6554_6555del (p.Thr2185fs)
|
|
|
NM_001384474.1(LOXHD1):c.674_683del (p.Leu225fs)
|
rs2144311846
|
|
NM_001384474.1(LOXHD1):c.734dup (p.Ser246fs)
|
rs1468257550
|
|
NM_001384474.1(LOXHD1):c.740del (p.Ala247fs)
|
|
|
NM_001384474.1(LOXHD1):c.746G>A (p.Trp249Ter)
|
rs1248889536
|
|
NM_001384474.1(LOXHD1):c.752_756del (p.Leu251fs)
|
rs2144311662
|
|
NM_001384474.1(LOXHD1):c.788_794del (p.Arg263fs)
|
|
|
NM_001384474.1(LOXHD1):c.870del (p.Ala291fs)
|
|
|
NM_001384474.1(LOXHD1):c.888del (p.Thr297fs)
|
rs2038338161
|
|
NM_001384474.1(LOXHD1):c.889dup (p.Thr297fs)
|
|
|
NM_001384474.1(LOXHD1):c.894T>G (p.Tyr298Ter)
|
rs886043441
|
|
NM_001384474.1(LOXHD1):c.917_926del (p.Asp306fs)
|
|
|
NM_001384474.1(LOXHD1):c.919del (p.Val307fs)
|
rs2144284524
|
|
NM_001384474.1(LOXHD1):c.970A>T (p.Arg324Ter)
|
|
|
NM_001384474.1(LOXHD1):c.978del (p.Asn326fs)
|
rs2144283917
|
|
NM_001384474.1(LOXHD1):c.994del (p.Ile332fs)
|
|
|
NM_144612.6(LOXHD1):c.[4480C>T];[4714C>T]
|
|
|