NM_000426.4(LAMA2):c.4048C>T (p.Arg1350Ter)
|
rs756854513
|
0.00010
|
NM_000426.4(LAMA2):c.1300C>T (p.Arg434Ter)
|
rs1374568851
|
0.00006
|
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer)
|
rs794727594
|
0.00006
|
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)
|
rs121913572
|
0.00004
|
NM_000426.4(LAMA2):c.3085C>T (p.Arg1029Ter)
|
rs145420388
|
0.00003
|
NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter)
|
rs398123373
|
0.00003
|
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter)
|
rs747349942
|
0.00003
|
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs)
|
rs1209130981
|
0.00003
|
NM_000426.4(LAMA2):c.250C>T (p.Arg84Ter)
|
rs868019991
|
0.00002
|
NM_000426.4(LAMA2):c.283+1G>A
|
rs200288072
|
0.00002
|
NM_000426.4(LAMA2):c.3215del (p.Cys1072fs)
|
rs886041297
|
0.00002
|
NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter)
|
rs369776766
|
0.00002
|
NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter)
|
rs758775001
|
0.00002
|
NM_000426.4(LAMA2):c.5562+5G>C
|
rs771046502
|
0.00002
|
NM_000426.4(LAMA2):c.6429+1G>T
|
rs1262029350
|
0.00002
|
NM_000426.4(LAMA2):c.7377dup (p.Leu2460fs)
|
rs749566145
|
0.00002
|
NM_000426.4(LAMA2):c.7658del (p.Ser2553fs)
|
rs1293303410
|
0.00002
|
NM_000426.4(LAMA2):c.1027+3A>G
|
rs772796883
|
0.00001
|
NM_000426.4(LAMA2):c.112+1G>A
|
rs398123367
|
0.00001
|
NM_000426.4(LAMA2):c.112+2T>C
|
rs1211322465
|
0.00001
|
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter)
|
rs773209126
|
0.00001
|
NM_000426.4(LAMA2):c.1580G>A (p.Cys527Tyr)
|
rs121913574
|
0.00001
|
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs)
|
rs202247791
|
0.00001
|
NM_000426.4(LAMA2):c.2584T>C (p.Cys862Arg)
|
rs121913573
|
0.00001
|
NM_000426.4(LAMA2):c.2749+1G>C
|
rs759555791
|
0.00001
|
NM_000426.4(LAMA2):c.2749+2dup
|
rs759144210
|
0.00001
|
NM_000426.4(LAMA2):c.2836C>T (p.Gln946Ter)
|
rs375638381
|
0.00001
|
NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter)
|
rs121913577
|
0.00001
|
NM_000426.4(LAMA2):c.2T>C (p.Met1Thr)
|
rs374403765
|
0.00001
|
NM_000426.4(LAMA2):c.3020_3021del (p.Gln1007fs)
|
rs757164022
|
0.00001
|
NM_000426.4(LAMA2):c.3038-7G>A
|
rs767841898
|
0.00001
|
NM_000426.4(LAMA2):c.329G>A (p.Trp110Ter)
|
rs1441933780
|
0.00001
|
NM_000426.4(LAMA2):c.3556-13T>A
|
rs775278003
|
0.00001
|
NM_000426.4(LAMA2):c.363C>A (p.Tyr121Ter)
|
rs535635043
|
0.00001
|
NM_000426.4(LAMA2):c.3736-2A>T
|
rs372715292
|
0.00001
|
NM_000426.4(LAMA2):c.396+1G>T
|
rs770617208
|
0.00001
|
NM_000426.4(LAMA2):c.4280del (p.Ser1427fs)
|
rs1433071073
|
0.00001
|
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter)
|
rs200923373
|
0.00001
|
NM_000426.4(LAMA2):c.4523+1G>A
|
rs398123375
|
0.00001
|
NM_000426.4(LAMA2):c.4645C>T (p.Arg1549Ter)
|
rs121913575
|
0.00001
|
NM_000426.4(LAMA2):c.5234+1G>A
|
rs781376927
|
0.00001
|
NM_000426.4(LAMA2):c.5602G>T (p.Glu1868Ter)
|
rs1276300668
|
0.00001
|
NM_000426.4(LAMA2):c.5706_5712del (p.Asp1902fs)
|
rs398123377
|
0.00001
|
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter)
|
rs398123378
|
0.00001
|
NM_000426.4(LAMA2):c.6072del (p.Ala2025fs)
|
rs1280099731
|
0.00001
|
NM_000426.4(LAMA2):c.6501C>A (p.Tyr2167Ter)
|
rs1424455269
|
0.00001
|
NM_000426.4(LAMA2):c.6520del (p.Asn2173_Val2174insTer)
|
rs776548207
|
0.00001
|
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter)
|
rs398123383
|
0.00001
|
NM_000426.4(LAMA2):c.6993-2A>C
|
rs200669208
|
0.00001
|
NM_000426.4(LAMA2):c.7044T>G (p.Tyr2348Ter)
|
rs866663584
|
0.00001
|
NM_000426.4(LAMA2):c.7071G>A (p.Trp2357Ter)
|
rs1276312596
|
0.00001
|
NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter)
|
rs762806915
|
0.00001
|
NM_000426.4(LAMA2):c.8244+1G>A
|
rs749522728
|
0.00001
|
NM_000426.4(LAMA2):c.8547+2T>C
|
rs1450790879
|
0.00001
|
NM_000426.4(LAMA2):c.8748del (p.Glu2917fs)
|
rs1345757357
|
0.00001
|
NC_000006.11:g.(?_129204381)_(129837502_?)del
|
|
|
NC_000006.11:g.(?_129204391)_(129204522_?)del
|
|
|
NC_000006.11:g.(?_129204391)_(129514018_?)del
|
|
|
NC_000006.11:g.(?_129371043)_(129486840_?)del
|
|
|
NC_000006.11:g.(?_129371043)_(129499031_?)del
|
|
|
NC_000006.11:g.(?_129371043)_(129622037_?)dup
|
|
|
NC_000006.11:g.(?_129371053)_(129725114_?)del
|
|
|
NC_000006.11:g.(?_129419298)_(129419580_?)del
|
|
|
NC_000006.11:g.(?_129419305)_(129514008_?)del
|
|
|
NC_000006.11:g.(?_129419305)_(129749009_?)del
|
|
|
NC_000006.11:g.(?_129465026)_(129514018_?)del
|
|
|
NC_000006.11:g.(?_129486711)_(129486830_?)del
|
|
|
NC_000006.11:g.(?_129581836)_(129581987_?)del
|
|
|
NC_000006.11:g.(?_129581836)_(129588384_?)del
|
|
|
NC_000006.11:g.(?_129601186)_(129674522_?)del
|
|
|
NC_000006.11:g.(?_129608982)_(129609213_?)del
|
|
|
NC_000006.11:g.(?_129612749)_(129612875_?)del
|
|
|
NC_000006.11:g.(?_129618820)_(129619020_?)del
|
|
|
NC_000006.11:g.(?_129621871)_(129622027_?)del
|
|
|
NC_000006.11:g.(?_129641663)_(129641820_?)del
|
|
|
NC_000006.11:g.(?_129663468)_(129663632_?)dup
|
|
|
NC_000006.11:g.(?_129670423)_(129691155_?)del
|
|
|
NC_000006.11:g.(?_129674299)_(129687516_?)del
|
|
|
NC_000006.11:g.(?_129687344)_(129691155_?)del
|
|
|
NC_000006.11:g.(?_129687354)_(129723642_?)del
|
|
|
NC_000006.11:g.(?_129691027)_(129704388_?)del
|
|
|
NC_000006.11:g.(?_129704247)_(129704398_?)del
|
|
|
NC_000006.11:g.(?_129712616)_(129712818_?)del
|
|
|
NC_000006.11:g.(?_129712616)_(129794517_?)del
|
|
|
NC_000006.11:g.(?_129722349)_(129723652_?)del
|
|
|
NC_000006.11:g.(?_129748887)_(129781479_?)del
|
|
|
NC_000006.11:g.(?_129766802)_(129837502_?)del
|
|
|
NC_000006.11:g.(?_129785425)_(129802594_?)del
|
|
|
NC_000006.11:g.(?_129807599)_(129807787_?)del
|
|
|
NC_000006.11:g.(?_129826335)_(129826510_?)del
|
|
|
NC_000006.11:g.(?_129837325)_(129837502_?)del
|
|
|
NC_000006.12:g.(?_128883236)_(128883367_?)del
|
|
|
NC_000006.12:g.(?_128883236)_(129098425_?)del
|
|
|
NC_000006.12:g.(?_129049908)_(129280157_?)del
|
|
|
NC_000006.12:g.(?_129059774)_(129098425_?)del
|
|
|
NC_000006.12:g.(?_129177696)_(129177876_?)del
|
|
|
NC_000006.12:g.(?_129287827)_(129288078_?)del
|
|
|
NC_000006.12:g.(?_129349278)_(129403979_?)del
|
|
|
NC_000006.12:g.(?_129349288)_(129403969_?)del
|
|
|
NC_000006.12:g.(?_129390037)_(129391573_?)del
|
|
|
NC_000006.12:g.(?_129486464)_(129486632_?)del
|
|
|
NC_000006.12:g.(?_129486474)_(129486622_?)del
|
|
|
NC_000006.12:g.(?_129516170)_(129516367_?)del
|
|
|
NC_000006.12:g.129059783GA[1]
|
|
|
NC_000006.12:g.129464290_129464296del
|
|
|
NM_000426.4(LAMA2):c.1027+1G>C
|
|
|
NM_000426.4(LAMA2):c.1027+1G>T
|
rs1064797327
|
|
NM_000426.4(LAMA2):c.1032del (p.Ala343_Cys344insTer)
|
|
|
NM_000426.4(LAMA2):c.1065dup (p.Asp356Ter)
|
|
|
NM_000426.4(LAMA2):c.106C>T (p.Gln36Ter)
|
rs1360796756
|
|
NM_000426.4(LAMA2):c.1122del (p.Gly376fs)
|
rs1338860420
|
|
NM_000426.4(LAMA2):c.1127del (p.Gly376fs)
|
rs1583149141
|
|
NM_000426.4(LAMA2):c.1153_1154del (p.Thr385fs)
|
|
|
NM_000426.4(LAMA2):c.1177T>G (p.Cys393Gly)
|
rs2114976490
|
|
NM_000426.4(LAMA2):c.1190del (p.Phe397fs)
|
rs1779001902
|
|
NM_000426.4(LAMA2):c.1206+1del
|
|
|
NM_000426.4(LAMA2):c.1233C>A (p.Cys411Ter)
|
|
|
NM_000426.4(LAMA2):c.1248C>A (p.Cys416Ter)
|
|
|
NM_000426.4(LAMA2):c.1255del (p.Ile419fs)
|
rs1185229314
|
|
NM_000426.4(LAMA2):c.1291A>T (p.Lys431Ter)
|
rs1583169165
|
|
NM_000426.4(LAMA2):c.12del (p.Ala5fs)
|
rs1554312639
|
|
NM_000426.4(LAMA2):c.1301del (p.Arg434fs)
|
rs1554230455
|
|
NM_000426.4(LAMA2):c.1306+1G>T
|
rs2114993363
|
|
NM_000426.4(LAMA2):c.1382_1383del (p.Thr461fs)
|
rs1780690164
|
|
NM_000426.4(LAMA2):c.1405_1406insAC (p.Cys469fs)
|
|
|
NM_000426.4(LAMA2):c.1419dup (p.Leu474fs)
|
|
|
NM_000426.4(LAMA2):c.1467+1G>A
|
rs1554234161
|
|
NM_000426.4(LAMA2):c.1467+1G>T
|
rs1554234161
|
|
NM_000426.4(LAMA2):c.1467+2T>C
|
rs1554234163
|
|
NM_000426.4(LAMA2):c.1535G>A (p.Trp512Ter)
|
rs1781452558
|
|
NM_000426.4(LAMA2):c.1596G>A (p.Trp532Ter)
|
|
|
NM_000426.4(LAMA2):c.1610_1611del (p.Ile537fs)
|
rs886043374
|
|
NM_000426.4(LAMA2):c.1632T>A (p.Tyr544Ter)
|
|
|
NM_000426.4(LAMA2):c.1657C>T (p.Arg553Ter)
|
rs1303773212
|
|
NM_000426.4(LAMA2):c.1677del (p.Asp559fs)
|
|
|
NM_000426.4(LAMA2):c.1700_1703dup (p.Ile569fs)
|
|
|
NM_000426.4(LAMA2):c.1727_1767del (p.Gln576fs)
|
rs1583219849
|
|
NM_000426.4(LAMA2):c.1732del (p.Leu578fs)
|
|
|
NM_000426.4(LAMA2):c.1740del (p.His580fs)
|
|
|
NM_000426.4(LAMA2):c.1749C>G (p.Tyr583Ter)
|
|
|
NM_000426.4(LAMA2):c.1798G>T (p.Gly600Ter)
|
rs36044314
|
|
NM_000426.4(LAMA2):c.1823_1824del (p.Ser607_Tyr608insTer)
|
|
|
NM_000426.4(LAMA2):c.1824T>G (p.Tyr608Ter)
|
rs2114276382
|
|
NM_000426.4(LAMA2):c.1843G>T (p.Glu615Ter)
|
rs2114276465
|
|
NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter)
|
rs398123368
|
|
NM_000426.4(LAMA2):c.1852G>T (p.Glu618Ter)
|
rs1786070922
|
|
NM_000426.4(LAMA2):c.1877del (p.Ile626fs)
|
rs2114276683
|
|
NM_000426.4(LAMA2):c.1881_1884del (p.Glu628fs)
|
|
|
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs)
|
rs746844753
|
|
NM_000426.4(LAMA2):c.1969G>T (p.Glu657Ter)
|
rs1786303769
|
|
NM_000426.4(LAMA2):c.2042T>A (p.Leu681Ter)
|
rs1786309286
|
|
NM_000426.4(LAMA2):c.2043delinsCT (p.Leu681fs)
|
rs1786309735
|
|
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)
|
rs202247790
|
|
NM_000426.4(LAMA2):c.2068_2071del (p.Tyr690fs)
|
rs1583345113
|
|
NM_000426.4(LAMA2):c.2070del (p.Thr689_Tyr690insTer)
|
|
|
NM_000426.4(LAMA2):c.2187del (p.Tyr730fs)
|
rs2114320699
|
|
NM_000426.4(LAMA2):c.2192del (p.Thr731fs)
|
rs1562389593
|
|
NM_000426.4(LAMA2):c.2230C>T (p.Arg744Ter)
|
rs775676341
|
|
NM_000426.4(LAMA2):c.2252del (p.Gly751fs)
|
|
|
NM_000426.4(LAMA2):c.2271T>A (p.Cys757Ter)
|
|
|
NM_000426.4(LAMA2):c.2350dup (p.Tyr784fs)
|
rs1554260284
|
|
NM_000426.4(LAMA2):c.2370T>A (p.Pro790=)
|
|
|
NM_000426.4(LAMA2):c.2383G>T (p.Glu795Ter)
|
|
|
NM_000426.4(LAMA2):c.2421T>A (p.Cys807Ter)
|
|
|
NM_000426.4(LAMA2):c.244C>T (p.Gln82Ter)
|
|
|
NM_000426.4(LAMA2):c.2461A>C (p.Thr821Pro)
|
rs186538779
|
|
NM_000426.4(LAMA2):c.2500G>T (p.Gly834Ter)
|
rs2114391000
|
|
NM_000426.4(LAMA2):c.2520dup (p.Gly841fs)
|
rs2114391108
|
|
NM_000426.4(LAMA2):c.253dup (p.Ile85fs)
|
rs1248727589
|
|
NM_000426.4(LAMA2):c.2541T>A (p.Cys847Ter)
|
rs2114420247
|
|
NM_000426.4(LAMA2):c.2556del (p.Phe852fs)
|
rs750731624
|
|
NM_000426.4(LAMA2):c.2560C>T (p.Gln854Ter)
|
rs1583421520
|
|
NM_000426.4(LAMA2):c.2565del (p.Ser856fs)
|
rs2114420319
|
|
NM_000426.4(LAMA2):c.2586T>A (p.Cys862Ter)
|
rs1789390592
|
|
NM_000426.4(LAMA2):c.2595C>A (p.Cys865Ter)
|
rs1789391655
|
|
NM_000426.4(LAMA2):c.2651del (p.Gly884fs)
|
|
|
NM_000426.4(LAMA2):c.2658T>A (p.Cys886Ter)
|
rs1789395190
|
|
NM_000426.4(LAMA2):c.2749+1G>A
|
rs759555791
|
|
NM_000426.4(LAMA2):c.2749+1G>T
|
|
|
NM_000426.4(LAMA2):c.2806C>T (p.Gln936Ter)
|
|
|
NM_000426.4(LAMA2):c.283C>T (p.Gln95Ter)
|
rs1018100729
|
|
NM_000426.4(LAMA2):c.2841_2842del (p.Arg947_Cys948insTer)
|
|
|
NM_000426.4(LAMA2):c.2859_2862dup (p.Thr955fs)
|
|
|
NM_000426.4(LAMA2):c.2863_2869del (p.Thr955fs)
|
|
|
NM_000426.4(LAMA2):c.2907C>A (p.Cys969Ter)
|
|
|
NM_000426.4(LAMA2):c.2916del (p.Phe972fs)
|
|
|
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter)
|
rs398123371
|
|
NM_000426.4(LAMA2):c.3089_3126dup (p.Lys1043fs)
|
rs2114460969
|
|
NM_000426.4(LAMA2):c.3146G>A (p.Trp1049Ter)
|
|
|
NM_000426.4(LAMA2):c.3182del (p.Asn1061fs)
|
rs1258407314
|
|
NM_000426.4(LAMA2):c.3232C>T (p.Gln1078Ter)
|
rs2114493974
|
|
NM_000426.4(LAMA2):c.3237C>A (p.Cys1079Ter)
|
rs1554268940
|
|
NM_000426.4(LAMA2):c.3258del (p.Gly1087fs)
|
|
|
NM_000426.4(LAMA2):c.3275_3276del (p.Glu1092fs)
|
rs1156538773
|
|
NM_000426.4(LAMA2):c.327G>A (p.Trp109Ter)
|
rs1788769048
|
|
NM_000426.4(LAMA2):c.3283C>T (p.Arg1095Ter)
|
rs376088608
|
|
NM_000426.4(LAMA2):c.3294G>A (p.Trp1098Ter)
|
|
|
NM_000426.4(LAMA2):c.3294del (p.His1097_Trp1098insTer)
|
rs764839142
|
|
NM_000426.4(LAMA2):c.3300C>A (p.Tyr1100Ter)
|
rs1583469993
|
|
NM_000426.4(LAMA2):c.3318_3319del (p.Cys1106_Asp1107delinsTer)
|
|
|
NM_000426.4(LAMA2):c.3332del (p.Pro1111fs)
|
rs2114494356
|
|
NM_000426.4(LAMA2):c.3338_3345dup (p.Thr1116fs)
|
rs2114494398
|
|
NM_000426.4(LAMA2):c.3372dup (p.Cys1125fs)
|
rs1361925574
|
|
NM_000426.4(LAMA2):c.3449_3453del (p.Pro1150fs)
|
rs1774464446
|
|
NM_000426.4(LAMA2):c.3555G>A (p.Trp1185Ter)
|
|
|
NM_000426.4(LAMA2):c.3607C>T (p.Gln1203Ter)
|
|
|
NM_000426.4(LAMA2):c.3623_3645del (p.Lys1208fs)
|
rs727503992
|
|
NM_000426.4(LAMA2):c.3630del (p.Ile1210fs)
|
rs398123372
|
|
NM_000426.4(LAMA2):c.3646G>T (p.Glu1216Ter)
|
|
|
NM_000426.4(LAMA2):c.3700_3701insTTTTTTTTTTNNNNNNNNNNAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACCTTTTT (p.Tyr1234delinsPhePhePheXaaXaaXaaXaaArgMetValSerIleSerTer)
|
rs2114501598
|
|
NM_000426.4(LAMA2):c.3700_3701insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACCTTTT (p.Tyr1234delinsPhePhePhePhePhePhePhePheTer)
|
|
|
NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter)
|
rs121913569
|
|
NM_000426.4(LAMA2):c.3736-1G>C
|
|
|
NM_000426.4(LAMA2):c.3747T>G (p.Tyr1249Ter)
|
|
|
NM_000426.4(LAMA2):c.3768_3771dup (p.Tyr1258fs)
|
|
|
NM_000426.4(LAMA2):c.3799_3821del (p.Phe1267fs)
|
rs750220830
|
|
NM_000426.4(LAMA2):c.3806del (p.Thr1269fs)
|
|
|
NM_000426.4(LAMA2):c.3817C>T (p.Gln1273Ter)
|
rs200625655
|
|
NM_000426.4(LAMA2):c.3829C>T (p.Arg1277Ter)
|
rs1554269891
|
|
NM_000426.4(LAMA2):c.3874del (p.Ala1292fs)
|
rs2114502447
|
|
NM_000426.4(LAMA2):c.3886_3889del (p.Ile1296fs)
|
rs1774572282
|
|
NM_000426.4(LAMA2):c.391C>T (p.Gln131Ter)
|
rs1562200866
|
|
NM_000426.4(LAMA2):c.3924+2T>C
|
rs1554269966
|
|
NM_000426.4(LAMA2):c.3928G>T (p.Glu1310Ter)
|
rs755643402
|
|
NM_000426.4(LAMA2):c.3932G>A (p.Trp1311Ter)
|
rs2114502893
|
|
NM_000426.4(LAMA2):c.3955C>T (p.Arg1319Ter)
|
rs1180309541
|
|
NM_000426.4(LAMA2):c.396+1G>A
|
|
|
NM_000426.4(LAMA2):c.3979_3985dup (p.Phe1329Ter)
|
rs886042847
|
|
NM_000426.4(LAMA2):c.4002T>G (p.Tyr1334Ter)
|
rs1562451730
|
|
NM_000426.4(LAMA2):c.4035T>G (p.Tyr1345Ter)
|
|
|
NM_000426.4(LAMA2):c.4049del (p.Arg1350fs)
|
|
|
NM_000426.4(LAMA2):c.4058+1G>A
|
rs2114503272
|
|
NM_000426.4(LAMA2):c.4115del (p.Pro1372fs)
|
|
|
NM_000426.4(LAMA2):c.4147_4148insGAAGGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAAATGTGATTGTC (p.Pro1383delinsArgArgGlyGlyAlaLysMetAlaGluTer)
|
|
|
NM_000426.4(LAMA2):c.414T>G (p.Tyr138Ter)
|
rs2114873123
|
|
NM_000426.4(LAMA2):c.4198C>T (p.Arg1400Ter)
|
rs775112258
|
|
NM_000426.4(LAMA2):c.4210C>T (p.Gln1404Ter)
|
rs2114532848
|
|
NM_000426.4(LAMA2):c.4240del (p.Leu1414fs)
|
rs2114532949
|
|
NM_000426.4(LAMA2):c.4261C>T (p.Gln1421Ter)
|
|
|
NM_000426.4(LAMA2):c.428_432del (p.Ala143fs)
|
|
|
NM_000426.4(LAMA2):c.4297del (p.Thr1433fs)
|
rs2114533123
|
|
NM_000426.4(LAMA2):c.4312-1G>C
|
rs1776314873
|
|
NM_000426.4(LAMA2):c.4312-2A>G
|
rs2114568240
|
|
NM_000426.4(LAMA2):c.4334_4352dup (p.Cys1451delinsTrpTer)
|
|
|
NM_000426.4(LAMA2):c.4345G>T (p.Glu1449Ter)
|
|
|
NM_000426.4(LAMA2):c.4366_4370del (p.Tyr1456fs)
|
rs2114568387
|
|
NM_000426.4(LAMA2):c.4368T>A (p.Tyr1456Ter)
|
rs758048573
|
|
NM_000426.4(LAMA2):c.442dup (p.Arg148fs)
|
rs1775302275
|
|
NM_000426.4(LAMA2):c.4498G>T (p.Gly1500Ter)
|
rs776889674
|
|
NM_000426.4(LAMA2):c.4523G>A (p.Arg1508Lys)
|
rs770084568
|
|
NM_000426.4(LAMA2):c.4523G>C (p.Arg1508Thr)
|
rs770084568
|
|
NM_000426.4(LAMA2):c.4533del (p.Gly1512fs)
|
rs1776950897
|
|
NM_000426.4(LAMA2):c.4583_4584del (p.Glu1528fs)
|
rs2114593280
|
|
NM_000426.4(LAMA2):c.4615del (p.Cys1539fs)
|
rs2114593373
|
|
NM_000426.4(LAMA2):c.4634del (p.Phe1545fs)
|
rs2114593440
|
|
NM_000426.4(LAMA2):c.4638C>A (p.Cys1546Ter)
|
|
|
NM_000426.4(LAMA2):c.4682del (p.Lys1561fs)
|
rs1246940477
|
|
NM_000426.4(LAMA2):c.4688G>A (p.Trp1563Ter)
|
rs2114593621
|
|
NM_000426.4(LAMA2):c.4692_4695dup (p.Arg1566fs)
|
rs774051471
|
|
NM_000426.4(LAMA2):c.4706G>A (p.Trp1569Ter)
|
|
|
NM_000426.4(LAMA2):c.4714_4715del (p.Val1572fs)
|
rs1186050632
|
|
NM_000426.4(LAMA2):c.4729G>T (p.Glu1577Ter)
|
|
|
NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs)
|
rs1392196900
|
|
NM_000426.4(LAMA2):c.4757T>A (p.Leu1586Ter)
|
rs2114619908
|
|
NM_000426.4(LAMA2):c.4814_4830del (p.Pro1605fs)
|
rs2114620061
|
|
NM_000426.4(LAMA2):c.4860+1G>A
|
|
|
NM_000426.4(LAMA2):c.4962del (p.Thr1655fs)
|
rs1778789800
|
|
NM_000426.4(LAMA2):c.4984G>T (p.Glu1662Ter)
|
|
|
NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter)
|
rs553221833
|
|
NM_000426.4(LAMA2):c.4992_4996del (p.Gln1666fs)
|
|
|
NM_000426.4(LAMA2):c.4996C>T (p.Gln1666Ter)
|
rs2114654019
|
|
NM_000426.4(LAMA2):c.499C>T (p.Gln167Ter)
|
rs2114873389
|
|
NM_000426.4(LAMA2):c.5020A>T (p.Arg1674Ter)
|
|
|
NM_000426.4(LAMA2):c.5038G>T (p.Glu1680Ter)
|
rs1778794887
|
|
NM_000426.4(LAMA2):c.504T>A (p.Tyr168Ter)
|
rs1008335405
|
|
NM_000426.4(LAMA2):c.5050G>T (p.Glu1684Ter)
|
rs201632009
|
|
NM_000426.4(LAMA2):c.5071+1G>A
|
rs757661749
|
|
NM_000426.4(LAMA2):c.5071+3104del
|
rs1554285766
|
|
NM_000426.4(LAMA2):c.5085dup (p.Ala1696fs)
|
rs1351661862
|
|
NM_000426.4(LAMA2):c.5135del (p.Arg1712fs)
|
rs2114671870
|
|
NM_000426.4(LAMA2):c.5156_5159del (p.Lys1719fs)
|
rs1554286963
|
|
NM_000426.4(LAMA2):c.5195dup (p.Asn1732fs)
|
rs747567057
|
|
NM_000426.4(LAMA2):c.5234+1G>C
|
|
|
NM_000426.4(LAMA2):c.523G>T (p.Glu175Ter)
|
rs863224891
|
|
NM_000426.4(LAMA2):c.5259del (p.Lys1753_Val1754insTer)
|
rs1211739649
|
|
NM_000426.4(LAMA2):c.5284del (p.Arg1762fs)
|
|
|
NM_000426.4(LAMA2):c.5290dup (p.Glu1764fs)
|
rs1415944134
|
|
NM_000426.4(LAMA2):c.5294del (p.Asn1765fs)
|
rs1296345962
|
|
NM_000426.4(LAMA2):c.5296G>T (p.Glu1766Ter)
|
rs1231277831
|
|
NM_000426.4(LAMA2):c.5325dup (p.Leu1776fs)
|
rs768458445
|
|
NM_000426.4(LAMA2):c.5356dup (p.Ala1786fs)
|
rs2114674819
|
|
NM_000426.4(LAMA2):c.5369_5370del (p.Leu1789_Leu1790insTer)
|
|
|
NM_000426.4(LAMA2):c.5374G>T (p.Glu1792Ter)
|
rs746201268
|
|
NM_000426.4(LAMA2):c.5429dup (p.Asn1810fs)
|
|
|
NM_000426.4(LAMA2):c.54_64del (p.Gly19fs)
|
|
|
NM_000426.4(LAMA2):c.5562+5G>A
|
rs771046502
|
|
NM_000426.4(LAMA2):c.5582del (p.Thr1861fs)
|
rs1780027332
|
|
NM_000426.4(LAMA2):c.561del (p.Pro188fs)
|
|
|
NM_000426.4(LAMA2):c.5795_5804del (p.Lys1932fs)
|
rs1780109910
|
|
NM_000426.4(LAMA2):c.5830G>T (p.Glu1944Ter)
|
rs1780112044
|
|
NM_000426.4(LAMA2):c.5853del (p.Ala1952fs)
|
rs1554290311
|
|
NM_000426.4(LAMA2):c.5866-1G>A
|
rs1064797040
|
|
NM_000426.4(LAMA2):c.5866-2A>G
|
rs1554295204
|
|
NM_000426.4(LAMA2):c.58dup (p.Val20fs)
|
|
|
NM_000426.4(LAMA2):c.5910T>A (p.Cys1970Ter)
|
rs1781395670
|
|
NM_000426.4(LAMA2):c.5962_5963delinsTG (p.Val1988Ter)
|
rs2114740915
|
|
NM_000426.4(LAMA2):c.5968G>T (p.Glu1990Ter)
|
rs1376412082
|
|
NM_000426.4(LAMA2):c.6031del (p.Asp2011fs)
|
rs2114761115
|
|
NM_000426.4(LAMA2):c.6062dup (p.Leu2023fs)
|
rs1554297242
|
|
NM_000426.4(LAMA2):c.6076del (p.Ile2026fs)
|
|
|
NM_000426.4(LAMA2):c.618_621dup (p.Pro208fs)
|
|
|
NM_000426.4(LAMA2):c.61C>T (p.Gln21Ter)
|
rs886061039
|
|
NM_000426.4(LAMA2):c.61_62del (p.Gln21fs)
|
rs1554312687
|
|
NM_000426.4(LAMA2):c.6283dup (p.Ala2095fs)
|
rs1782332430
|
|
NM_000426.4(LAMA2):c.6305T>G (p.Leu2102Ter)
|
rs1782333085
|
|
NM_000426.4(LAMA2):c.638del (p.Glu213fs)
|
|
|
NM_000426.4(LAMA2):c.6429+1G>A
|
|
|
NM_000426.4(LAMA2):c.6443del (p.Val2148fs)
|
rs770895341
|
|
NM_000426.4(LAMA2):c.6444_6445del (p.Ser2149fs)
|
|
|
NM_000426.4(LAMA2):c.6466C>T (p.Arg2156Ter)
|
rs922640025
|
|
NM_000426.4(LAMA2):c.6484del (p.Ile2162fs)
|
|
|
NM_000426.4(LAMA2):c.6488del (p.Lys2163fs)
|
rs886039482
|
|
NM_000426.4(LAMA2):c.6500dup (p.Tyr2167Ter)
|
|
|
NM_000426.4(LAMA2):c.6510TGT[1] (p.Val2172del)
|
rs1363017615
|
|
NM_000426.4(LAMA2):c.652_653del (p.Leu218fs)
|
rs2114958680
|
|
NM_000426.4(LAMA2):c.6555T>A (p.Tyr2185Ter)
|
|
|
NM_000426.4(LAMA2):c.6573del (p.Phe2191fs)
|
rs2114788848
|
|
NM_000426.4(LAMA2):c.6588dup (p.Ile2197fs)
|
|
|
NM_000426.4(LAMA2):c.6617del (p.Phe2206fs)
|
rs867012156
|
|
NM_000426.4(LAMA2):c.664_665insAC (p.Arg222fs)
|
|
|
NM_000426.4(LAMA2):c.666A>C (p.Arg222Ser)
|
rs2114958704
|
|
NM_000426.4(LAMA2):c.6690C>A (p.Tyr2230Ter)
|
rs1583790201
|
|
NM_000426.4(LAMA2):c.6768_6771dup (p.Ser2258fs)
|
|
|
NM_000426.4(LAMA2):c.67C>T (p.Gln23Ter)
|
|
|
NM_000426.4(LAMA2):c.6801_6802del (p.Tyr2268fs)
|
|
|
NM_000426.4(LAMA2):c.6820del (p.Asp2274fs)
|
rs1562581261
|
|
NM_000426.4(LAMA2):c.6919_6920del (p.Tyr2307fs)
|
rs757404275
|
|
NM_000426.4(LAMA2):c.6924dup (p.Asp2309Ter)
|
|
|
NM_000426.4(LAMA2):c.6964del (p.Glu2322fs)
|
rs2114801377
|
|
NM_000426.4(LAMA2):c.6993-2A>G
|
rs200669208
|
|
NM_000426.4(LAMA2):c.7042dup (p.Tyr2348fs)
|
|
|
NM_000426.4(LAMA2):c.7070G>A (p.Trp2357Ter)
|
rs761714859
|
|
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter)
|
rs121913576
|
|
NM_000426.4(LAMA2):c.7147del (p.Arg2383fs)
|
|
|
NM_000426.4(LAMA2):c.7156-5_7157delinsT
|
rs1554301854
|
|
NM_000426.4(LAMA2):c.7181del (p.Thr2394fs)
|
rs1583815667
|
|
NM_000426.4(LAMA2):c.7207_7208dup (p.Asp2403fs)
|
rs1554301883
|
|
NM_000426.4(LAMA2):c.720T>G (p.Tyr240Ter)
|
|
|
NM_000426.4(LAMA2):c.7265G>A (p.Trp2422Ter)
|
|
|
NM_000426.4(LAMA2):c.7279_7280del (p.Leu2427fs)
|
rs398123385
|
|
NM_000426.4(LAMA2):c.7280del (p.Leu2427fs)
|
|
|
NM_000426.4(LAMA2):c.7297C>T (p.Gln2433Ter)
|
|
|
NM_000426.4(LAMA2):c.7370del (p.Asn2457fs)
|
rs2114823738
|
|
NM_000426.4(LAMA2):c.7393_7394del (p.Ala2464_Asp2465insTer)
|
rs2114823800
|
|
NM_000426.4(LAMA2):c.7439+1G>A
|
rs886043630
|
|
NM_000426.4(LAMA2):c.7473_7475dup (p.Tyr2492Ter)
|
rs1784205288
|
|
NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs)
|
rs1480934961
|
|
NM_000426.4(LAMA2):c.7518C>A (p.Tyr2506Ter)
|
rs2114834541
|
|
NM_000426.4(LAMA2):c.7536del (p.Asp2513fs)
|
rs398123387
|
|
NM_000426.4(LAMA2):c.7568del (p.Leu2523fs)
|
|
|
NM_000426.4(LAMA2):c.7572+1G>T
|
|
|
NM_000426.4(LAMA2):c.7572+2T>G
|
|
|
NM_000426.4(LAMA2):c.7623del (p.Val2542fs)
|
rs1784334715
|
|
NM_000426.4(LAMA2):c.7655del (p.Leu2552fs)
|
rs1384474600
|
|
NM_000426.4(LAMA2):c.7666del (p.Thr2556fs)
|
rs2114839550
|
|
NM_000426.4(LAMA2):c.7710_7711insG (p.Pro2571fs)
|
rs1554305937
|
|
NM_000426.4(LAMA2):c.7753_7756dup (p.Tyr2586fs)
|
|
|
NM_000426.4(LAMA2):c.7788del (p.Val2597fs)
|
|
|
NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter)
|
rs766920075
|
|
NM_000426.4(LAMA2):c.7814del (p.Thr2605fs)
|
rs2114848989
|
|
NM_000426.4(LAMA2):c.7827_7848del (p.Val2610fs)
|
rs1784594432
|
|
NM_000426.4(LAMA2):c.7870_7871dup (p.Ser2625fs)
|
rs2114849148
|
|
NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter)
|
rs727502851
|
|
NM_000426.4(LAMA2):c.7898+1G>A
|
rs1784599832
|
|
NM_000426.4(LAMA2):c.7927A>T (p.Arg2643Ter)
|
rs2114859541
|
|
NM_000426.4(LAMA2):c.7928_7929del (p.Arg2643fs)
|
|
|
NM_000426.4(LAMA2):c.7935C>A (p.Tyr2645Ter)
|
|
|
NM_000426.4(LAMA2):c.7945del (p.Asn2648_Leu2649insTer)
|
rs2114859580
|
|
NM_000426.4(LAMA2):c.7966G>T (p.Glu2656Ter)
|
rs909847521
|
|
NM_000426.4(LAMA2):c.7991del (p.Gly2664fs)
|
rs886039541
|
|
NM_000426.4(LAMA2):c.799G>A (p.Asp267Asn)
|
|
|
NM_000426.4(LAMA2):c.8020_8023dup (p.Arg2675fs)
|
rs1784889421
|
|
NM_000426.4(LAMA2):c.8040del (p.Phe2680fs)
|
|
|
NM_000426.4(LAMA2):c.8052dup (p.Trp2685fs)
|
|
|
NM_000426.4(LAMA2):c.8073del (p.Val2692fs)
|
|
|
NM_000426.4(LAMA2):c.8096del (p.Pro2699fs)
|
rs1784912657
|
|
NM_000426.4(LAMA2):c.8111del (p.Asn2704fs)
|
|
|
NM_000426.4(LAMA2):c.8115del (p.Asp2706fs)
|
|
|
NM_000426.4(LAMA2):c.8127del (p.Cys2710fs)
|
rs1784914735
|
|
NM_000426.4(LAMA2):c.8178_8185del (p.Glu2726fs)
|
rs2114860862
|
|
NM_000426.4(LAMA2):c.8180_8181del (p.Ile2727fs)
|
rs1205783002
|
|
NM_000426.4(LAMA2):c.8188C>T (p.Gln2730Ter)
|
rs1784919273
|
|
NM_000426.4(LAMA2):c.819+2T>C
|
rs1554226188
|
|
NM_000426.4(LAMA2):c.8244+1G>C
|
|
|
NM_000426.4(LAMA2):c.8244+3_8244+6del
|
rs746678525
|
|
NM_000426.4(LAMA2):c.828C>G (p.Tyr276Ter)
|
rs1028599119
|
|
NM_000426.4(LAMA2):c.832del (p.Val278fs)
|
|
|
NM_000426.4(LAMA2):c.8363del (p.Thr2788fs)
|
rs2114890695
|
|
NM_000426.4(LAMA2):c.8378_8381del (p.Val2793fs)
|
rs2114890769
|
|
NM_000426.4(LAMA2):c.8541del (p.Trp2847fs)
|
rs2114891707
|
|
NM_000426.4(LAMA2):c.8547+1G>T
|
rs1554315373
|
|
NM_000426.4(LAMA2):c.8581_8584dup (p.Tyr2862fs)
|
rs1583919688
|
|
NM_000426.4(LAMA2):c.8586T>G (p.Tyr2862Ter)
|
|
|
NM_000426.4(LAMA2):c.8613dup (p.Ser2872fs)
|
rs2114900655
|
|
NM_000426.4(LAMA2):c.8625del (p.Ala2876fs)
|
|
|
NM_000426.4(LAMA2):c.8647G>T (p.Gly2883Ter)
|
rs2114900886
|
|
NM_000426.4(LAMA2):c.8669dup (p.Leu2890fs)
|
rs1554316216
|
|
NM_000426.4(LAMA2):c.8682C>G (p.Tyr2894Ter)
|
rs2114901162
|
|
NM_000426.4(LAMA2):c.8683_8687del (p.Thr2895fs)
|
rs1785972046
|
|
NM_000426.4(LAMA2):c.8689C>T (p.Arg2897Ter)
|
rs750328754
|
|
NM_000426.4(LAMA2):c.8692del (p.Arg2898fs)
|
rs1785973861
|
|
NM_000426.4(LAMA2):c.8703+1G>A
|
|
|
NM_000426.4(LAMA2):c.8725T>C (p.Cys2909Arg)
|
|
|
NM_000426.4(LAMA2):c.872del (p.Gly291fs)
|
rs1222620175
|
|
NM_000426.4(LAMA2):c.8769dup (p.Gln2924fs)
|
rs1583929127
|
|
NM_000426.4(LAMA2):c.8770C>T (p.Gln2924Ter)
|
rs1034133545
|
|
NM_000426.4(LAMA2):c.8798del (p.Thr2933fs)
|
rs2114911219
|
|
NM_000426.4(LAMA2):c.8962_8965dup (p.Gly2989fs)
|
rs2114931095
|
|
NM_000426.4(LAMA2):c.8986A>T (p.Lys2996Ter)
|
rs2114931240
|
|
NM_000426.4(LAMA2):c.9031_9034dup (p.Tyr3012fs)
|
rs1786860270
|
|
NM_000426.4(LAMA2):c.9066_9102dup (p.His3035delinsTrpThrMetAlaTer)
|
|
|
NM_000426.4(LAMA2):c.9075G>A (p.Trp3025Ter)
|
|
|
NM_000426.4(LAMA2):c.910-1G>A
|
rs2114967780
|
|
NM_000426.4(LAMA2):c.910-1G>T
|
rs2114967780
|
|
NM_000426.4(LAMA2):c.9101_9104dup (p.His3035fs)
|
rs398123390
|
|
NM_000426.4(LAMA2):c.9116del (p.Leu3039fs)
|
|
|
NM_000426.4(LAMA2):c.9139G>T (p.Glu3047Ter)
|
|
|
NM_000426.4(LAMA2):c.9139_9145dup (p.Gln3049fs)
|
|
|
NM_000426.4(LAMA2):c.9141dup (p.Ala3048fs)
|
|
|
NM_000426.4(LAMA2):c.9149_9155del (p.Ser3050fs)
|
rs1323340608
|
|
NM_000426.4(LAMA2):c.9158del (p.Pro3053fs)
|
rs2114939704
|
|
NM_000426.4(LAMA2):c.9168_9169dup (p.Ser3057fs)
|
rs2114939796
|
|
NM_000426.4(LAMA2):c.9188_9189del (p.Pro3063fs)
|
|
|
NM_000426.4(LAMA2):c.9191dup (p.Phe3065fs)
|
rs2114939909
|
|
NM_000426.4(LAMA2):c.9192_9193del (p.Phe3065fs)
|
rs1786879628
|
|
NM_000426.4(LAMA2):c.9195_9198dup (p.Gly3067fs)
|
rs2114939917
|
|
NM_000426.4(LAMA2):c.9211+1G>A
|
rs1554320318
|
|
NM_000426.4(LAMA2):c.9222del (p.Lys3074fs)
|
rs1787058325
|
|
NM_000426.4(LAMA2):c.9223C>T (p.Gln3075Ter)
|
rs771012835
|
|
NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter)
|
rs121913571
|
|
NM_000426.4(LAMA2):c.938_939del (p.Thr313fs)
|
rs2114967814
|
|
NM_000426.4(LAMA2):c.942T>A (p.Cys314Ter)
|
rs2114967843
|
|
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs)
|
rs1554227092
|
|
NM_000426.4(LAMA2):c.991A>T (p.Arg331Ter)
|
rs1457748796
|
|