NM_198129.4(LAMA3):c.8500= (p.Gly2834=)
|
rs1154233
|
0.99993
|
NM_000228.3(LAMB3):c.2702-12dup
|
rs397807887
|
0.95488
|
NM_000228.3(LAMB3):c.823-15C>T
|
rs4844863
|
0.84219
|
NM_198129.4(LAMA3):c.2304+67G>T
|
rs6507956
|
0.79861
|
NM_198129.4(LAMA3):c.1942-74G>C
|
rs2155841
|
0.79748
|
NM_000228.3(LAMB3):c.1716T>C (p.Cys572=)
|
rs2179402
|
0.74805
|
NM_198129.4(LAMA3):c.948-84C>T
|
rs6507894
|
0.72706
|
NM_198129.4(LAMA3):c.7778+97T>C
|
rs1541836
|
0.67847
|
NM_198129.4(LAMA3):c.2901T>C (p.Ala967=)
|
rs9962023
|
0.64176
|
NM_000228.3(LAMB3):c.184-70A>G
|
rs2076357
|
0.57810
|
NM_000228.3(LAMB3):c.291A>C (p.Ser97=)
|
rs2076356
|
0.56410
|
NM_198129.4(LAMA3):c.9211-21C>T
|
rs2288592
|
0.51885
|
NM_198129.4(LAMA3):c.9352-7G>A
|
rs2241643
|
0.51794
|
NM_198129.4(LAMA3):c.*91C>T
|
rs1051150
|
0.51640
|
NM_198129.4(LAMA3):c.*89C>A
|
rs1051149
|
0.51636
|
NM_198129.4(LAMA3):c.4260G>C (p.Gly1420=)
|
rs867449
|
0.48275
|
NM_198129.4(LAMA3):c.4137-87A>G
|
rs867448
|
0.47865
|
NM_198129.4(LAMA3):c.2304+44A>C
|
rs7244406
|
0.47571
|
NM_198129.4(LAMA3):c.4530C>T (p.Pro1510=)
|
rs12965685
|
0.47260
|
NM_005562.3(LAMC2):c.268+14A>G
|
rs647347
|
0.45636
|
NM_000228.3(LAMB3):c.3432A>G (p.Ser1144=)
|
rs1049607
|
0.44327
|
NM_198129.4(LAMA3):c.6201+53A>G
|
rs1154227
|
0.35521
|
NM_000228.3(LAMB3):c.384C>T (p.Pro128=)
|
rs1130667
|
0.30741
|
NM_005562.3(LAMC2):c.798T>G (p.Gly266=)
|
rs1047980
|
0.29549
|
NM_005562.3(LAMC2):c.2688G>A (p.Gln896=)
|
rs1047981
|
0.29455
|
NM_000228.3(LAMB3):c.1976+169T>C
|
rs4844860
|
0.29396
|
NM_000228.3(LAMB3):c.298+50T>A
|
rs2076355
|
0.28812
|
NM_000228.3(LAMB3):c.2556+60C>T
|
rs3737913
|
0.27290
|
NM_000228.3(LAMB3):c.*102C>T
|
rs2566
|
0.27226
|
NM_005562.3(LAMC2):c.641-80C>T
|
rs2296307
|
0.25699
|
NM_005562.3(LAMC2):c.483C>T (p.Val161=)
|
rs1129723
|
0.25575
|
NM_005562.3(LAMC2):c.297C>T (p.Ser99=)
|
rs2274980
|
0.25565
|
NM_005562.3(LAMC2):c.405-31T>C
|
rs10911285
|
0.25565
|
NM_000228.3(LAMB3):c.138C>T (p.Thr46=)
|
rs2228339
|
0.25110
|
NM_005562.3(LAMC2):c.-6C>A
|
rs684527
|
0.24932
|
NM_005562.3(LAMC2):c.*13T>G
|
rs3768593
|
0.23969
|
NM_198129.4(LAMA3):c.6147C>G (p.Ala2049=)
|
rs1154226
|
0.21073
|
NM_005562.3(LAMC2):c.-89A>G
|
rs2276542
|
0.17959
|
NM_198129.4(LAMA3):c.8445C>A (p.Asn2815Lys)
|
rs1154232
|
0.17201
|
NM_198129.4(LAMA3):c.1183-110C>T
|
rs6507907
|
0.16922
|
NM_005562.3(LAMC2):c.2198G>C (p.Ser733Thr)
|
rs2296303
|
0.16512
|
NM_198129.4(LAMA3):c.565+64G>T
|
rs9955745
|
0.15790
|
NM_198129.4(LAMA3):c.8731C>T (p.Leu2911=)
|
rs1131521
|
0.15145
|
NM_000228.3(LAMB3):c.1579G>A (p.Val527Met)
|
rs2076349
|
0.12644
|
NM_000228.3(LAMB3):c.1486-18G>A
|
rs2076350
|
0.12625
|
NM_000228.3(LAMB3):c.1289-52G>A
|
rs2072938
|
0.12083
|
NM_000228.3(LAMB3):c.2673A>G (p.Leu891=)
|
rs3179860
|
0.11219
|
NM_000228.3(LAMB3):c.2554A>T (p.Met852Leu)
|
rs12748250
|
0.11215
|
NM_198129.4(LAMA3):c.5322C>T (p.Phe1774=)
|
rs958631
|
0.08419
|
NM_005562.3(LAMC2):c.371C>T (p.Thr124Met)
|
rs11586699
|
0.05840
|
NM_198129.4(LAMA3):c.3622C>A (p.Pro1208Thr)
|
rs17202961
|
0.05021
|
NM_000228.3(LAMB3):c.1764T>C (p.Tyr588=)
|
rs2229465
|
0.02743
|
NM_000228.3(LAMB3):c.2777C>A (p.Ala926Asp)
|
rs2076222
|
0.02691
|
NM_000228.3(LAMB3):c.2124T>C (p.Ser708=)
|
rs2072937
|
0.02665
|
NM_000228.3(LAMB3):c.2069A>G (p.Asn690Ser)
|
rs2229466
|
0.02614
|
NM_198129.4(LAMA3):c.6555C>T (p.Ala2185=)
|
rs35872318
|
0.02513
|
NM_000228.3(LAMB3):c.564+10G>A
|
rs12410975
|
0.02306
|
NM_198129.4(LAMA3):c.*239G>A
|
rs45543834
|
0.01494
|
NM_198129.4(LAMA3):c.8104A>G (p.Thr2702Ala)
|
rs9952370
|
0.01207
|
NM_000228.3(LAMB3):c.1015T>C (p.Tyr339His)
|
rs52814161
|
0.01066
|
NM_198129.4(LAMA3):c.9643-14C>T
|
rs72875942
|
0.00748
|
NM_198129.4(LAMA3):c.9353G>A (p.Ser3118Asn)
|
rs61749943
|
0.00618
|
NM_198129.4(LAMA3):c.7797C>T (p.Asp2599=)
|
rs61751706
|
0.00523
|
NM_198129.4(LAMA3):c.*395A>T
|
rs138907590
|
0.00519
|
NM_198129.4(LAMA3):c.7818G>A (p.Thr2606=)
|
rs139567388
|
0.00426
|
NM_005562.3(LAMC2):c.880C>T (p.Leu294=)
|
rs144572936
|
0.00307
|
NM_198129.4(LAMA3):c.6805C>G (p.Leu2269Val)
|
rs138591939
|
0.00303
|
NM_198129.4(LAMA3):c.8629C>T (p.His2877Tyr)
|
rs35153125
|
0.00264
|
NM_005562.3(LAMC2):c.1899G>C (p.Leu633=)
|
rs141812464
|
0.00257
|
NM_198129.4(LAMA3):c.8028C>T (p.Asn2676=)
|
rs35737354
|
0.00238
|
NM_198129.4(LAMA3):c.9559C>T (p.Arg3187Cys)
|
rs150956802
|
0.00200
|
NM_198129.4(LAMA3):c.4998+1367G>A
|
rs199639611
|
0.00192
|
NM_005562.3(LAMC2):c.1637C>A (p.Ala546Asp)
|
rs140949383
|
0.00177
|
NM_198129.4(LAMA3):c.9027-11G>A
|
rs117781425
|
0.00152
|
NM_198129.4(LAMA3):c.8851C>T (p.Arg2951Cys)
|
rs61752346
|
0.00147
|
NM_005562.3(LAMC2):c.889A>G (p.Thr297Ala)
|
rs143817389
|
0.00144
|
NM_198129.4(LAMA3):c.7218C>T (p.Asp2406=)
|
rs62093184
|
0.00134
|
NM_000227.6(LAMA3):c.110T>G (p.Phe37Cys)
|
rs138914132
|
0.00126
|
NM_198129.4(LAMA3):c.8898C>T (p.Ser2966=)
|
rs141164795
|
0.00121
|
NM_000228.3(LAMB3):c.2945A>G (p.Asp982Gly)
|
rs140769823
|
0.00116
|
NM_000228.3(LAMB3):c.1051G>A (p.Glu351Lys)
|
rs114875539
|
0.00107
|
NM_198129.4(LAMA3):c.8829G>A (p.Arg2943=)
|
rs141472847
|
0.00103
|
NM_005562.3(LAMC2):c.883C>T (p.Arg295Trp)
|
rs147959853
|
0.00098
|
NM_198129.4(LAMA3):c.5522G>A (p.Arg1841His)
|
rs144475991
|
0.00098
|
NM_198129.4(LAMA3):c.5223-13G>C
|
rs145241852
|
0.00095
|
NM_198129.4(LAMA3):c.1283G>C (p.Cys428Ser)
|
rs180795245
|
0.00092
|
NM_000227.6(LAMA3):c.30C>T (p.Cys10=)
|
rs145044428
|
0.00090
|
NM_198129.4(LAMA3):c.5924G>A (p.Arg1975His)
|
rs149809232
|
0.00080
|
NM_198129.4(LAMA3):c.7739C>A (p.Thr2580Lys)
|
rs61751705
|
0.00059
|
NM_198129.4(LAMA3):c.9400G>C (p.Asp3134His)
|
rs139393524
|
0.00059
|
NM_198129.4(LAMA3):c.9241C>T (p.Arg3081Cys)
|
rs35762515
|
0.00056
|
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)
|
rs80356682
|
0.00049
|
NM_000228.3(LAMB3):c.67C>T (p.Arg23Cys)
|
rs115191959
|
0.00047
|
NM_000228.3(LAMB3):c.777C>T (p.Cys259=)
|
rs146529524
|
0.00047
|
NM_198129.4(LAMA3):c.4557C>T (p.Val1519=)
|
rs202215313
|
0.00040
|
NM_198129.4(LAMA3):c.8283G>A (p.Ser2761=)
|
rs146634036
|
0.00039
|
NM_198129.4(LAMA3):c.5621T>C (p.Leu1874Ser)
|
rs139348197
|
0.00036
|
NM_198129.4(LAMA3):c.7740A>G (p.Thr2580=)
|
rs145848988
|
0.00033
|
NM_198129.4(LAMA3):c.7545C>T (p.Pro2515=)
|
rs145460785
|
0.00031
|
NM_198129.4(LAMA3):c.7505A>G (p.Asn2502Ser)
|
rs139823161
|
0.00029
|
NM_000228.3(LAMB3):c.958_1034dup (p.Asn345fs)
|
rs1553277702
|
0.00028
|
NM_198129.4(LAMA3):c.8773G>A (p.Gly2925Arg)
|
rs112986465
|
0.00026
|
NM_198129.4(LAMA3):c.6436G>A (p.Ala2146Thr)
|
rs146005577
|
0.00023
|
NM_198129.4(LAMA3):c.5340C>T (p.Phe1780=)
|
rs138524783
|
0.00021
|
NM_000228.3(LAMB3):c.582G>T (p.Met194Ile)
|
rs75876132
|
0.00019
|
NM_198129.4(LAMA3):c.*352A>G
|
rs886053681
|
0.00019
|
NM_198129.4(LAMA3):c.8656C>T (p.Arg2886Cys)
|
rs199991488
|
0.00019
|
NM_198129.4(LAMA3):c.9209C>T (p.Thr3070Met)
|
rs117056996
|
0.00019
|
NM_198129.4(LAMA3):c.8282C>T (p.Ser2761Leu)
|
rs144549206
|
0.00018
|
NM_198129.4(LAMA3):c.9165G>A (p.Leu3055=)
|
rs370470226
|
0.00018
|
NM_198129.4(LAMA3):c.5942G>A (p.Arg1981Gln)
|
rs139393175
|
0.00017
|
NM_000228.3(LAMB3):c.1090C>T (p.Arg364Trp)
|
rs370699820
|
0.00016
|
NM_198129.4(LAMA3):c.7723T>C (p.Tyr2575His)
|
rs377097479
|
0.00014
|
NM_198129.4(LAMA3):c.8107A>G (p.Ile2703Val)
|
rs201093281
|
0.00014
|
NM_198129.4(LAMA3):c.8241C>T (p.Val2747=)
|
rs371174542
|
0.00013
|
NM_198129.4(LAMA3):c.8664C>T (p.Gly2888=)
|
rs138908985
|
0.00012
|
NM_198129.4(LAMA3):c.7465C>T (p.Arg2489Trp)
|
rs147463397
|
0.00011
|
NM_198129.4(LAMA3):c.7546G>A (p.Gly2516Arg)
|
rs113624323
|
0.00011
|
NM_198129.4(LAMA3):c.7916A>G (p.Glu2639Gly)
|
rs149306119
|
0.00011
|
NM_198129.4(LAMA3):c.8075G>A (p.Arg2692His)
|
rs139915002
|
0.00011
|
NM_000228.3(LAMB3):c.1565G>A (p.Arg522Gln)
|
rs144249951
|
0.00010
|
NM_198129.4(LAMA3):c.5169T>C (p.Tyr1723=)
|
rs140561492
|
0.00010
|
NM_198129.4(LAMA3):c.5493C>T (p.Asn1831=)
|
rs199982757
|
0.00010
|
NM_198129.4(LAMA3):c.9027-14G>A
|
rs372927257
|
0.00010
|
NM_198129.4(LAMA3):c.5131G>A (p.Ala1711Thr)
|
rs369226812
|
0.00009
|
NM_198129.4(LAMA3):c.9944T>C (p.Val3315Ala)
|
rs371453979
|
0.00009
|
NM_000228.3(LAMB3):c.404G>A (p.Arg135His)
|
rs148603717
|
0.00008
|
NM_198129.4(LAMA3):c.6286A>G (p.Ile2096Val)
|
rs150757806
|
0.00008
|
NM_198129.4(LAMA3):c.6290C>T (p.Ala2097Val)
|
rs763137413
|
0.00008
|
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter)
|
rs80356680
|
0.00006
|
NM_000228.3(LAMB3):c.1978C>T (p.Arg660Ter)
|
rs146794392
|
0.00006
|
NM_198129.4(LAMA3):c.*375G>C
|
rs1026638700
|
0.00006
|
NM_198129.4(LAMA3):c.4750C>T (p.Arg1584Ter)
|
rs552326056
|
0.00006
|
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter)
|
rs201551805
|
0.00005
|
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter)
|
rs80356681
|
0.00005
|
NM_005562.3(LAMC2):c.503+14G>A
|
rs372097432
|
0.00005
|
NM_198129.4(LAMA3):c.5304-4G>A
|
rs370409067
|
0.00005
|
NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs)
|
rs769967565
|
0.00004
|
NM_000228.3(LAMB3):c.1823dup (p.Ser608fs)
|
rs1057516219
|
0.00004
|
NM_005562.3(LAMC2):c.-15C>T
|
rs762430522
|
0.00004
|
NM_005562.3(LAMC2):c.301C>T (p.Arg101Trp)
|
rs563159537
|
0.00004
|
NM_198129.4(LAMA3):c.*126A>G
|
rs546219784
|
0.00004
|
NM_198129.4(LAMA3):c.5410+10A>G
|
rs746263741
|
0.00004
|
NM_198129.4(LAMA3):c.5613+13C>T
|
rs766241071
|
0.00004
|
NM_198129.4(LAMA3):c.5773C>T (p.Arg1925Trp)
|
rs775241363
|
0.00004
|
NM_198129.4(LAMA3):c.6013C>T (p.Arg2005Trp)
|
rs373250558
|
0.00004
|
NM_198129.4(LAMA3):c.7181A>G (p.Asn2394Ser)
|
rs201944973
|
0.00004
|
NM_000228.3(LAMB3):c.2036C>T (p.Pro679Leu)
|
rs201223111
|
0.00003
|
NM_000228.3(LAMB3):c.2137+37G>A
|
rs374527059
|
0.00003
|
NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter)
|
rs747916314
|
0.00003
|
NM_000228.3(LAMB3):c.565-2A>G
|
rs370148688
|
0.00003
|
NM_005562.3(LAMC2):c.1468+1G>T
|
rs1043996591
|
0.00003
|
NM_198129.4(LAMA3):c.4558G>T (p.Ala1520Ser)
|
rs763626668
|
0.00003
|
NM_198129.4(LAMA3):c.6509G>C (p.Arg2170Pro)
|
rs148728856
|
0.00003
|
NM_198129.4(LAMA3):c.8044-1G>T
|
rs141789403
|
0.00003
|
NM_198129.4(LAMA3):c.9475A>G (p.Ile3159Val)
|
rs762966407
|
0.00003
|
NM_000227.6(LAMA3):c.71A>G (p.Gln24Arg)
|
rs1349909774
|
0.00002
|
NM_000228.3(LAMB3):c.463dup (p.Ser155fs)
|
rs776537364
|
0.00002
|
NM_000228.3(LAMB3):c.977del (p.His326fs)
|
rs753711190
|
0.00002
|
NM_000228.3(LAMB3):c.978del (p.Phe327fs)
|
rs763559509
|
0.00002
|
NM_005562.3(LAMC2):c.80-2A>G
|
rs771613805
|
0.00002
|
NM_198129.4(LAMA3):c.1064-2A>G
|
rs756617534
|
0.00002
|
NM_198129.4(LAMA3):c.3376C>T (p.Arg1126Ter)
|
rs540179310
|
0.00002
|
NM_198129.4(LAMA3):c.4519C>T (p.Gln1507Ter)
|
rs534665666
|
0.00002
|
NM_198129.4(LAMA3):c.5997G>A (p.Ser1999=)
|
rs564308785
|
0.00002
|
NM_198129.4(LAMA3):c.7336C>T (p.Arg2446Trp)
|
rs746635499
|
0.00002
|
NM_198129.4(LAMA3):c.8193G>C (p.Thr2731=)
|
rs762861196
|
0.00002
|
NM_198129.4(LAMA3):c.9647C>T (p.Thr3216Met)
|
rs539486931
|
0.00002
|
NM_000227.6(LAMA3):c.108del (p.Leu38fs)
|
rs1231716161
|
0.00001
|
NM_000227.6(LAMA3):c.1A>T (p.Met1Leu)
|
rs747547191
|
0.00001
|
NM_000228.3(LAMB3):c.1594C>T (p.Arg532Ter)
|
rs757145297
|
0.00001
|
NM_000228.3(LAMB3):c.1597+1G>T
|
rs1553277072
|
0.00001
|
NM_000228.3(LAMB3):c.1756C>T (p.Gln586Ter)
|
rs749842554
|
0.00001
|
NM_000228.3(LAMB3):c.2188C>T (p.Gln730Ter)
|
rs1350303547
|
0.00001
|
NM_000228.3(LAMB3):c.3329C>T (p.Thr1110Ile)
|
rs886045859
|
0.00001
|
NM_000228.3(LAMB3):c.405C>T (p.Arg135=)
|
rs1007125449
|
0.00001
|
NM_000228.3(LAMB3):c.430C>T (p.Arg144Ter)
|
rs759518184
|
0.00001
|
NM_000228.3(LAMB3):c.628+1G>A
|
rs1057516539
|
0.00001
|
NM_000228.3(LAMB3):c.628+42G>A
|
rs587776812
|
0.00001
|
NM_000228.3(LAMB3):c.868T>A (p.Cys290Ser)
|
rs1553277846
|
0.00001
|
NM_005562.3(LAMC2):c.1067-1G>A
|
rs1558092501
|
0.00001
|
NM_198129.4(LAMA3):c.10000T>A (p.Ter3334Lys)
|
rs1555756804
|
0.00001
|
NM_198129.4(LAMA3):c.1064-1G>A
|
rs780441868
|
0.00001
|
NM_198129.4(LAMA3):c.1555C>T (p.Arg519Ter)
|
rs757972988
|
0.00001
|
NM_198129.4(LAMA3):c.1742-1G>A
|
rs778808869
|
0.00001
|
NM_198129.4(LAMA3):c.2147+1G>A
|
rs1555700517
|
0.00001
|
NM_198129.4(LAMA3):c.2571+2dup
|
rs1203300407
|
0.00001
|
NM_198129.4(LAMA3):c.3093+1G>C
|
rs1392528129
|
0.00001
|
NM_198129.4(LAMA3):c.3175C>T (p.Arg1059Ter)
|
rs868258726
|
0.00001
|
NM_198129.4(LAMA3):c.4996C>T (p.Gln1666Ter)
|
rs1317347725
|
0.00001
|
NM_198129.4(LAMA3):c.5113-2A>G
|
rs1057516475
|
0.00001
|
NM_198129.4(LAMA3):c.6202-12T>A
|
rs764177904
|
0.00001
|
NM_198129.4(LAMA3):c.6574G>A (p.Ala2192Thr)
|
rs202152742
|
0.00001
|
NM_198129.4(LAMA3):c.6808C>T (p.Arg2270Ter)
|
rs137852757
|
0.00001
|
NM_198129.4(LAMA3):c.7016-7C>T
|
rs1473466115
|
0.00001
|
NM_198129.4(LAMA3):c.7158+1G>A
|
rs1057516279
|
0.00001
|
NM_198129.4(LAMA3):c.7593G>A (p.Leu2531=)
|
rs753332450
|
0.00001
|
NM_198129.4(LAMA3):c.7727A>G (p.Asn2576Ser)
|
rs781529313
|
0.00001
|
NM_198129.4(LAMA3):c.7845A>G (p.Pro2615=)
|
rs773730834
|
0.00001
|
NM_198129.4(LAMA3):c.8203C>T (p.Arg2735Ter)
|
rs774133746
|
0.00001
|
NM_198129.4(LAMA3):c.8204G>A (p.Arg2735Gln)
|
rs201106669
|
0.00001
|
NM_198129.4(LAMA3):c.8295+2T>C
|
rs1555743457
|
0.00001
|
NM_198129.4(LAMA3):c.8613T>C (p.Asn2871=)
|
rs1179461242
|
0.00001
|
NM_198129.4(LAMA3):c.8657G>A (p.Arg2886His)
|
rs759770267
|
0.00001
|
NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter)
|
rs772038362
|
0.00001
|
NM_198129.4(LAMA3):c.9511+1G>A
|
rs1296034886
|
0.00001
|
NM_198129.4(LAMA3):c.9589C>T (p.His3197Tyr)
|
rs776515886
|
0.00001
|
NM_198129.4(LAMA3):c.9695C>A (p.Pro3232Gln)
|
rs369545352
|
0.00001
|
NC_000001.11:g.209617587del
|
rs1571796718
|
|
NM_000227.6(LAMA3):c.151dup (p.Val51fs)
|
rs80356678
|
|
NM_000227.6(LAMA3):c.19C>T (p.Arg7Trp)
|
rs139495056
|
|
NM_000227.6(LAMA3):c.2T>C (p.Met1Thr)
|
rs1555720521
|
|
NM_000227.6(LAMA3):c.42G>A (p.Trp14Ter)
|
rs900100444
|
|
NM_000227.6(LAMA3):c.91C>T (p.Gln31Ter)
|
rs1057516512
|
|
NM_000228.2(LAMB3):c.2138_2140delGAG
|
rs1553276448
|
|
NM_000228.2(LAMB3):c.957_958ins77 (p.?)
|
|
|
NM_000228.3(LAMB3):c.-38+1G>T
|
|
|
NM_000228.3(LAMB3):c.1007del (p.Gln336fs)
|
rs1057517395
|
|
NM_000228.3(LAMB3):c.1029T>A (p.Cys343Ter)
|
rs1057516316
|
|
NM_000228.3(LAMB3):c.1029_1030dup (p.Asp344fs)
|
rs1057517290
|
|
NM_000228.3(LAMB3):c.1065_1066del (p.Cys355_Glu356delinsTer)
|
rs1553277686
|
|
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter)
|
rs1057517096
|
|
NM_000228.3(LAMB3):c.1143T>A (p.Cys381Ter)
|
rs769748910
|
|
NM_000228.3(LAMB3):c.1150G>A (p.Asp384Asn)
|
rs267598351
|
|
NM_000228.3(LAMB3):c.1266C>G (p.Tyr422Ter)
|
rs766227083
|
|
NM_000228.3(LAMB3):c.1283_1288+14del
|
rs1553277432
|
|
NM_000228.3(LAMB3):c.1288+1G>A
|
rs1186161867
|
|
NM_000228.3(LAMB3):c.1288+1G>T
|
rs1186161867
|
|
NM_000228.3(LAMB3):c.1289-186G>A
|
rs61822212
|
|
NM_000228.3(LAMB3):c.1344_1345del (p.Ser448fs)
|
rs1553277267
|
|
NM_000228.3(LAMB3):c.1426C>T (p.Gln476Ter)
|
rs1666507638
|
|
NM_000228.3(LAMB3):c.1459_1461dup (p.Asn487dup)
|
rs1553277238
|
|
NM_000228.3(LAMB3):c.1474C>T (p.Gln492Ter)
|
rs1666505168
|
|
NM_000228.3(LAMB3):c.1479C>A (p.Cys493Ter)
|
rs1447665931
|
|
NM_000228.3(LAMB3):c.1486-1G>A
|
rs1418276828
|
|
NM_000228.3(LAMB3):c.1510G>T (p.Glu504Ter)
|
rs1666482613
|
|
NM_000228.3(LAMB3):c.1587_1588del (p.Gly530fs)
|
rs769151482
|
|
NM_000228.3(LAMB3):c.1665C>A (p.Cys555Ter)
|
rs1666432128
|
|
NM_000228.3(LAMB3):c.1702C>T (p.Gln568Ter)
|
rs1571810782
|
|
NM_000228.3(LAMB3):c.1727C>T (p.Pro576Leu)
|
rs202063530
|
|
NM_000228.3(LAMB3):c.1783C>T (p.Gln595Ter)
|
rs1666422338
|
|
NM_000228.3(LAMB3):c.183+2T>C
|
rs1553281291
|
|
NM_000228.3(LAMB3):c.1830G>A (p.Trp610Ter)
|
rs121912484
|
|
NM_000228.3(LAMB3):c.1A>T (p.Met1Leu)
|
rs2102467762
|
|
NM_000228.3(LAMB3):c.2011del (p.Leu671fs)
|
rs1057516822
|
|
NM_000228.3(LAMB3):c.2027_2029del (p.Leu676del)
|
rs1553276516
|
|
NM_000228.3(LAMB3):c.202A>T (p.Lys68Ter)
|
rs2076427827
|
|
NM_000228.3(LAMB3):c.2108_2127del (p.Gln702_Phe703insTer)
|
rs1553276488
|
|
NM_000228.3(LAMB3):c.2170C>T (p.Gln724Ter)
|
rs1057517207
|
|
NM_000228.3(LAMB3):c.2182del (p.Ala728fs)
|
rs1553276430
|
|
NM_000228.3(LAMB3):c.225_226del (p.His75fs)
|
rs886045870
|
|
NM_000228.3(LAMB3):c.2271AGG[5] (p.Gly761dup)
|
rs752460751
|
|
NM_000228.3(LAMB3):c.2271AGG[6] (p.Gly760_Gly761dup)
|
rs752460751
|
|
NM_000228.3(LAMB3):c.2288del (p.Gly763fs)
|
rs886041893
|
|
NM_000228.3(LAMB3):c.2346del (p.Thr783fs)
|
rs1057516486
|
|
NM_000228.3(LAMB3):c.2358+2T>C
|
rs1057516838
|
|
NM_000228.3(LAMB3):c.2362_2372del (p.Cys788fs)
|
rs1375506940
|
|
NM_000228.3(LAMB3):c.2396dup (p.Ser800fs)
|
rs1553276268
|
|
NM_000228.3(LAMB3):c.2516del (p.Leu839fs)
|
rs1553276216
|
|
NM_000228.3(LAMB3):c.2556+1G>A
|
rs1178041263
|
|
NM_000228.3(LAMB3):c.2557-2A>C
|
|
|
NM_000228.3(LAMB3):c.2701+1G>A
|
rs1553276110
|
|
NM_000228.3(LAMB3):c.2806C>T (p.Gln936Ter)
|
rs121912485
|
|
NM_000228.3(LAMB3):c.2842del (p.Val948fs)
|
rs772421306
|
|
NM_000228.3(LAMB3):c.2864_2890del (p.Asp955_Gln963del)
|
rs745574977
|
|
NM_000228.3(LAMB3):c.2873G>A (p.Arg958His)
|
rs142984572
|
|
NM_000228.3(LAMB3):c.29-2A>G
|
rs371267954
|
|
NM_000228.3(LAMB3):c.2962C>T (p.Arg988Trp)
|
rs2229467
|
|
NM_000228.3(LAMB3):c.298+2T>C
|
rs1057517312
|
|
NM_000228.3(LAMB3):c.2992C>T (p.Gln998Ter)
|
rs1666039804
|
|
NM_000228.3(LAMB3):c.3007G>A (p.Gly1003Ser)
|
rs886045862
|
|
NM_000228.3(LAMB3):c.3008G>C (p.Gly1003Ala)
|
rs768371778
|
|
NM_000228.3(LAMB3):c.3024del (p.Arg1009fs)
|
rs777292177
|
|
NM_000228.3(LAMB3):c.3034C>T (p.Gln1012Ter)
|
rs1057516756
|
|
NM_000228.3(LAMB3):c.3052-1G>A
|
rs774472247
|
|
NM_000228.3(LAMB3):c.3055C>T (p.Gln1019Ter)
|
rs1666017894
|
|
NM_000228.3(LAMB3):c.308del (p.Pro103fs)
|
rs1553279073
|
|
NM_000228.3(LAMB3):c.3119G>A (p.Trp1040Ter)
|
rs1057516759
|
|
NM_000228.3(LAMB3):c.3130G>T (p.Glu1044Ter)
|
rs1666014535
|
|
NM_000228.3(LAMB3):c.31dup (p.Leu11fs)
|
rs777672897
|
|
NM_000228.3(LAMB3):c.3250_3251del (p.Lys1084fs)
|
rs1553275219
|
|
NM_000228.3(LAMB3):c.3517_3518del (p.Ter1173MetextTer?)
|
rs1057516400
|
|
NM_000228.3(LAMB3):c.372+1G>C
|
rs1553279044
|
|
NM_000228.3(LAMB3):c.372+2T>G
|
rs1057516675
|
|
NM_000228.3(LAMB3):c.373-2A>G
|
rs1057517258
|
|
NM_000228.3(LAMB3):c.428G>A (p.Trp143Ter)
|
rs2102438650
|
|
NM_000228.3(LAMB3):c.459C>A (p.Cys153Ter)
|
rs565416040
|
|
NM_000228.3(LAMB3):c.496C>T (p.Gln166Ter)
|
rs121912483
|
|
NM_000228.3(LAMB3):c.499_500del (p.Ser167fs)
|
rs1057516241
|
|
NM_000228.3(LAMB3):c.505C>T (p.Gln169Ter)
|
rs1057516399
|
|
NM_000228.3(LAMB3):c.519C>A (p.Cys173Ter)
|
rs1666819553
|
|
NM_000228.3(LAMB3):c.561del (p.Lys188fs)
|
rs1057516947
|
|
NM_000228.3(LAMB3):c.565-1G>T
|
rs1057516693
|
|
NM_000228.3(LAMB3):c.565-2A>C
|
rs370148688
|
|
NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala)
|
rs121912486
|
|
NM_000228.3(LAMB3):c.622del (p.Ile208fs)
|
rs768303931
|
|
NM_000228.3(LAMB3):c.69_70del (p.Ala25fs)
|
rs1057516884
|
|
NM_000228.3(LAMB3):c.714C>A (p.Tyr238Ter)
|
rs1666736220
|
|
NM_000228.3(LAMB3):c.784A>T (p.Lys262Ter)
|
rs1666731883
|
|
NM_000228.3(LAMB3):c.822+2dup
|
rs1553278151
|
|
NM_000228.3(LAMB3):c.822+33G>C
|
rs2072940
|
|
NM_000228.3(LAMB3):c.823-1G>T
|
rs778372285
|
|
NM_000228.3(LAMB3):c.870T>A (p.Cys290Ter)
|
rs1057516809
|
|
NM_000228.3(LAMB3):c.920del (p.Gly307fs)
|
rs1057516249
|
|
NM_000228.3(LAMB3):c.940C>T (p.Gln314Ter)
|
rs1666646272
|
|
NM_000228.3(LAMB3):c.943+2T>A
|
rs1464038626
|
|
NM_000228.3(LAMB3):c.948C>A (p.Cys316Ter)
|
rs779681550
|
|
NM_000228.3(LAMB3):c.975T>A (p.Cys325Ter)
|
rs1666615300
|
|
NM_005562.3(LAMC2):c.1003G>T (p.Glu335Ter)
|
|
|
NM_005562.3(LAMC2):c.1065C>G (p.Tyr355Ter)
|
rs118203899
|
|
NM_005562.3(LAMC2):c.1066+1del
|
rs2102228390
|
|
NM_005562.3(LAMC2):c.1120_1121insACTGTCTCTTATA (p.Ala374fs)
|
|
|
NM_005562.3(LAMC2):c.1179C>A (p.Cys393Ter)
|
rs1659640091
|
|
NM_005562.3(LAMC2):c.1257del (p.Gly421fs)
|
rs1553266433
|
|
NM_005562.3(LAMC2):c.1326_1327insAGAATGTCAAA (p.Ala443fs)
|
|
|
NM_005562.3(LAMC2):c.1347del (p.Tyr450fs)
|
|
|
NM_005562.3(LAMC2):c.134_137del (p.Arg45fs)
|
rs1057516806
|
|
NM_005562.3(LAMC2):c.1412C>G (p.Ser471Ter)
|
rs1659667947
|
|
NM_005562.3(LAMC2):c.1468+1del
|
rs1553266537
|
|
NM_005562.3(LAMC2):c.1469_1470insACTGTCTCTTATACACA (p.Ala491fs)
|
|
|
NM_005562.3(LAMC2):c.146_150dup (p.Phe51fs)
|
rs1057517353
|
|
NM_005562.3(LAMC2):c.1552C>T (p.Gln518Ter)
|
rs1659698585
|
|
NM_005562.3(LAMC2):c.1714+2T>C
|
rs1553266671
|
|
NM_005562.3(LAMC2):c.1715-1G>A
|
rs774080932
|
|
NM_005562.3(LAMC2):c.1715-1G>C
|
rs774080932
|
|
NM_005562.3(LAMC2):c.1720delinsTT (p.Asn574fs)
|
|
|
NM_005562.3(LAMC2):c.176del (p.Asn59fs)
|
|
|
NM_005562.3(LAMC2):c.1782_1783del (p.Lys594fs)
|
rs1553266871
|
|
NM_005562.3(LAMC2):c.1786G>T (p.Gly596Ter)
|
rs1659784333
|
|
NM_005562.3(LAMC2):c.1796del (p.Gly599fs)
|
|
|
NM_005562.3(LAMC2):c.180dup (p.Asp61Ter)
|
rs1553264644
|
|
NM_005562.3(LAMC2):c.1858-1G>A
|
rs1057516487
|
|
NM_005562.3(LAMC2):c.1904C>G (p.Ser635Ter)
|
|
|
NM_005562.3(LAMC2):c.1907del (p.Lys636fs)
|
|
|
NM_005562.3(LAMC2):c.195C>A (p.Cys65Ter)
|
|
|
NM_005562.3(LAMC2):c.1970_1971del (p.Glu657fs)
|
rs1057516569
|
|
NM_005562.3(LAMC2):c.1A>G (p.Met1Val)
|
rs886045625
|
|
NM_005562.3(LAMC2):c.2006_2012del (p.Ile669fs)
|
rs778012079
|
|
NM_005562.3(LAMC2):c.2014+1G>A
|
rs1553267007
|
|
NM_005562.3(LAMC2):c.219C>A (p.Tyr73Ter)
|
rs1658950895
|
|
NM_005562.3(LAMC2):c.2213dup (p.Asn739fs)
|
|
|
NM_005562.3(LAMC2):c.2220+2T>G
|
rs1553267060
|
|
NM_005562.3(LAMC2):c.2234C>G (p.Ser745Ter)
|
|
|
NM_005562.3(LAMC2):c.2278G>A (p.Glu760Lys)
|
rs2102242954
|
|
NM_005562.3(LAMC2):c.2348del (p.Glu783fs)
|
rs776142807
|
|
NM_005562.3(LAMC2):c.2362dup (p.Gln788fs)
|
|
|
NM_005562.3(LAMC2):c.2372C>A (p.Ser791Ter)
|
|
|
NM_005562.3(LAMC2):c.2389_2392del (p.Leu797fs)
|
rs1057516383
|
|
NM_005562.3(LAMC2):c.2413_2421del (p.Ser805_Ser807del)
|
rs1553267343
|
|
NM_005562.3(LAMC2):c.2418_2425dup (p.Asp809fs)
|
rs1553267345
|
|
NM_005562.3(LAMC2):c.2456+1G>C
|
rs1553267356
|
|
NM_005562.3(LAMC2):c.2456+2dup
|
rs1553267357
|
|
NM_005562.3(LAMC2):c.2470A>T (p.Lys824Ter)
|
|
|
NM_005562.3(LAMC2):c.252C>A (p.Cys84Ter)
|
|
|
NM_005562.3(LAMC2):c.2541_2542del (p.His847fs)
|
rs1057516727
|
|
NM_005562.3(LAMC2):c.2578G>T (p.Gly860Ter)
|
|
|
NM_005562.3(LAMC2):c.2590C>T (p.Gln864Ter)
|
rs151190720
|
|
NM_005562.3(LAMC2):c.2602-1G>C
|
rs1553267499
|
|
NM_005562.3(LAMC2):c.2631dup (p.Ala878fs)
|
|
|
NM_005562.3(LAMC2):c.268+1G>A
|
rs759509443
|
|
NM_005562.3(LAMC2):c.2706G>A (p.Trp902Ter)
|
|
|
NM_005562.3(LAMC2):c.2708AAG[2] (p.Glu905del)
|
rs1179496469
|
|
NM_005562.3(LAMC2):c.2713G>T (p.Glu905Ter)
|
rs1660001380
|
|
NM_005562.3(LAMC2):c.2719C>T (p.Gln907Ter)
|
rs1660001741
|
|
NM_005562.3(LAMC2):c.2738del (p.Gly913fs)
|
|
|
NM_005562.3(LAMC2):c.2748_2752delinsAGAA (p.Arg917fs)
|
|
|
NM_005562.3(LAMC2):c.2755-2A>G
|
rs1553267554
|
|
NM_005562.3(LAMC2):c.2755A>T (p.Lys919Ter)
|
|
|
NM_005562.3(LAMC2):c.2764C>T (p.Gln922Ter)
|
rs1660027790
|
|
NM_005562.3(LAMC2):c.2797A>T (p.Arg933Ter)
|
rs1660029324
|
|
NM_005562.3(LAMC2):c.2838T>A (p.Tyr946Ter)
|
rs1173478186
|
|
NM_005562.3(LAMC2):c.2838T>G (p.Tyr946Ter)
|
rs1173478186
|
|
NM_005562.3(LAMC2):c.283C>T (p.Arg95Ter)
|
rs80356683
|
|
NM_005562.3(LAMC2):c.288T>A (p.Cys96Ter)
|
rs1659222371
|
|
NM_005562.3(LAMC2):c.2898del (p.Ala967fs)
|
|
|
NM_005562.3(LAMC2):c.2929_2930del (p.Ser977fs)
|
rs1057516935
|
|
NM_005562.3(LAMC2):c.2944A>T (p.Lys982Ter)
|
|
|
NM_005562.3(LAMC2):c.2944_2946del (p.Lys982del)
|
rs1553267617
|
|
NM_005562.3(LAMC2):c.2965A>T (p.Lys989Ter)
|
|
|
NM_005562.3(LAMC2):c.3069+1G>C
|
rs1553267638
|
|
NM_005562.3(LAMC2):c.3147dup (p.Lys1050fs)
|
rs1057517159
|
|
NM_005562.3(LAMC2):c.3223_3224del (p.Gln1075fs)
|
rs1553267679
|
|
NM_005562.3(LAMC2):c.3328+19_3328+25del
|
rs747693187
|
|
NM_005562.3(LAMC2):c.3328+8AACCCAC[3]
|
rs747693187
|
|
NM_005562.3(LAMC2):c.3329-2A>G
|
rs1553267870
|
|
NM_005562.3(LAMC2):c.3357del (p.Leu1120fs)
|
rs1057516473
|
|
NM_005562.3(LAMC2):c.3375_3394del (p.Gln1125fs)
|
rs1553267882
|
|
NM_005562.3(LAMC2):c.3385C>T (p.Arg1129Ter)
|
rs201307156
|
|
NM_005562.3(LAMC2):c.3411del (p.Gln1137fs)
|
rs1553267885
|
|
NM_005562.3(LAMC2):c.343C>T (p.Arg115Ter)
|
rs149930148
|
|
NM_005562.3(LAMC2):c.388C>T (p.Gln130Ter)
|
rs1659228652
|
|
NM_005562.3(LAMC2):c.3G>T (p.Met1Ile)
|
rs1479808203
|
|
NM_005562.3(LAMC2):c.503+1G>C
|
rs1057516410
|
|
NM_005562.3(LAMC2):c.504-2A>C
|
rs1553265770
|
|
NM_005562.3(LAMC2):c.537del (p.Asn180fs)
|
rs745512079
|
|
NM_005562.3(LAMC2):c.559_560insAA (p.Cys187Ter)
|
rs1057516444
|
|
NM_005562.3(LAMC2):c.640+2T>A
|
rs1553265794
|
|
NM_005562.3(LAMC2):c.641-2A>G
|
rs1553265902
|
|
NM_005562.3(LAMC2):c.651_654del (p.Trp218fs)
|
|
|
NM_005562.3(LAMC2):c.667C>T (p.Arg223Ter)
|
rs753268823
|
|
NM_005562.3(LAMC2):c.709C>T (p.Gln237Ter)
|
rs757617349
|
|
NM_005562.3(LAMC2):c.815A>G (p.Asp272Gly)
|
rs2102224102
|
|
NM_005562.3(LAMC2):c.825_826insCTGTCTCTTATCATCT (p.Asp276delinsLeuSerLeuIleIleTer)
|
|
|
NM_005562.3(LAMC2):c.851_852insTGCTGAGTGT (p.His285fs)
|
|
|
NM_005562.3(LAMC2):c.877_878del (p.Gly293fs)
|
rs1057516218
|
|
NM_005562.3(LAMC2):c.927T>A (p.Cys309Ter)
|
|
|
NM_005562.3(LAMC2):c.953+1G>A
|
rs1553266052
|
|
NM_005562.3(LAMC2):c.954-2A>T
|
rs1553266260
|
|
NM_198129.4(LAMA3):c.*48T>A
|
rs886053680
|
|
NM_198129.4(LAMA3):c.1054G>T (p.Glu352Ter)
|
rs1344062987
|
|
NM_198129.4(LAMA3):c.1064-15A>G
|
rs7232856
|
|
NM_198129.4(LAMA3):c.1611G>A (p.Trp537Ter)
|
rs1555698689
|
|
NM_198129.4(LAMA3):c.1741+2T>C
|
rs1555698735
|
|
NM_198129.4(LAMA3):c.18del (p.Pro7fs)
|
rs1555670401
|
|
NM_198129.4(LAMA3):c.1941+1del
|
rs1555700047
|
|
NM_198129.4(LAMA3):c.1942-2A>C
|
rs1555700119
|
|
NM_198129.4(LAMA3):c.2204_2210del (p.Asp735fs)
|
rs1555701549
|
|
NM_198129.4(LAMA3):c.2305-2A>G
|
rs1555702265
|
|
NM_198129.4(LAMA3):c.2428+1G>A
|
rs375558120
|
|
NM_198129.4(LAMA3):c.2572-2A>G
|
rs1555703785
|
|
NM_198129.4(LAMA3):c.2823+1G>A
|
rs1555704210
|
|
NM_198129.4(LAMA3):c.2868C>A (p.Tyr956Ter)
|
rs755080322
|
|
NM_198129.4(LAMA3):c.2886T>G (p.Tyr962Ter)
|
rs550140177
|
|
NM_198129.4(LAMA3):c.3093+1G>A
|
rs1392528129
|
|
NM_198129.4(LAMA3):c.3140_3141del (p.Val1047fs)
|
rs1555708032
|
|
NM_198129.4(LAMA3):c.3336+1G>A
|
rs1555708549
|
|
NM_198129.4(LAMA3):c.3381C>A (p.Tyr1127Ter)
|
rs767385840
|
|
NM_198129.4(LAMA3):c.3463+1G>A
|
rs1555709710
|
|
NM_198129.4(LAMA3):c.3719+3_3719+6del
|
rs1436285030
|
|
NM_198129.4(LAMA3):c.3936C>A (p.Cys1312Ter)
|
rs374897016
|
|
NM_198129.4(LAMA3):c.394del (p.Leu132fs)
|
rs887748208
|
|
NM_198129.4(LAMA3):c.3972del (p.Gln1325fs)
|
rs747355586
|
|
NM_198129.4(LAMA3):c.4128del (p.Gln1377fs)
|
rs1555712024
|
|
NM_198129.4(LAMA3):c.4174del (p.Cys1392fs)
|
rs1555715208
|
|
NM_198129.4(LAMA3):c.4201G>T (p.Glu1401Ter)
|
rs752265207
|
|
NM_198129.4(LAMA3):c.4422+1G>A
|
rs1016415773
|
|
NM_198129.4(LAMA3):c.4501del (p.Ser1501fs)
|
rs1555716726
|
|
NM_198129.4(LAMA3):c.4538_4560del (p.Ile1513fs)
|
rs1555716754
|
|
NM_198129.4(LAMA3):c.4768-2A>G
|
rs1555719747
|
|
NM_198129.4(LAMA3):c.4810GAG[1] (p.Glu1605del)
|
rs1555719776
|
|
NM_198129.4(LAMA3):c.4855C>T (p.Gln1619Ter)
|
rs1555719813
|
|
NM_198129.4(LAMA3):c.4909_4925del (p.Glu1637fs)
|
rs1598965457
|
|
NM_198129.4(LAMA3):c.4974del (p.Ala1659fs)
|
rs767394785
|
|
NM_198129.4(LAMA3):c.5049del (p.Cys1684fs)
|
rs752030611
|
|
NM_198129.4(LAMA3):c.5072_5073insGGG (p.Gly1691dup)
|
rs1555721786
|
|
NM_198129.4(LAMA3):c.5112+1G>A
|
rs1057517023
|
|
NM_198129.4(LAMA3):c.5112+1G>T
|
rs1057517023
|
|
NM_198129.4(LAMA3):c.5112+2T>G
|
rs1555721815
|
|
NM_198129.4(LAMA3):c.5152del (p.Cys1718fs)
|
rs1057517235
|
|
NM_198129.4(LAMA3):c.5197dup (p.Ala1733fs)
|
rs1555724066
|
|
NM_198129.4(LAMA3):c.5205del (p.Cys1736fs)
|
rs1057517367
|
|
NM_198129.4(LAMA3):c.5221A>G (p.Ser1741Gly)
|
rs1555724108
|
|
NM_198129.4(LAMA3):c.5411-2_5411-1delinsGA
|
rs1555728297
|
|
NM_198129.4(LAMA3):c.5461+1G>A
|
rs1555728319
|
|
NM_198129.4(LAMA3):c.5462-44G>A
|
rs1268716
|
|
NM_198129.4(LAMA3):c.5594_5597del (p.Thr1865fs)
|
rs1555728701
|
|
NM_198129.4(LAMA3):c.5600_5601insTAGGCACATGGAGACCCAGGC (p.Arg1861_Ala1867dup)
|
rs1555728685
|
|
NM_198129.4(LAMA3):c.5613+1G>A
|
|
|
NM_198129.4(LAMA3):c.566-1G>A
|
rs776632604
|
|
NM_198129.4(LAMA3):c.5688dup (p.Asp1897Ter)
|
rs1057517314
|
|
NM_198129.4(LAMA3):c.5782C>T (p.Gln1928Ter)
|
rs1555730209
|
|
NM_198129.4(LAMA3):c.5830G>A (p.Val1944Met)
|
rs2080976294
|
|
NM_198129.4(LAMA3):c.5836+2T>C
|
rs1057516584
|
|
NM_198129.4(LAMA3):c.5848C>G (p.Gln1950Glu)
|
rs886053671
|
|
NM_198129.4(LAMA3):c.584T>G (p.Leu195Ter)
|
rs1555683785
|
|
NM_198129.4(LAMA3):c.5865T>G (p.Asp1955Glu)
|
rs151037092
|
|
NM_198129.4(LAMA3):c.5980_5981del (p.Glu1993_Ala1994insTer)
|
rs1057516688
|
|
NM_198129.4(LAMA3):c.6041del (p.Gln2014fs)
|
rs1555731178
|
|
NM_198129.4(LAMA3):c.6158A>T (p.Asn2053Ile)
|
rs141145607
|
|
NM_198129.4(LAMA3):c.6232_6233del (p.Gln2077_Ser2078insTer)
|
rs1158945258
|
|
NM_198129.4(LAMA3):c.6266C>G (p.Ser2089Ter)
|
rs1555732032
|
|
NM_198129.4(LAMA3):c.6318+2T>C
|
rs1057516280
|
|
NM_198129.4(LAMA3):c.6377_6380del (p.Val2126fs)
|
rs1555732431
|
|
NM_198129.4(LAMA3):c.6472G>T (p.Glu2158Ter)
|
rs1555732528
|
|
NM_198129.4(LAMA3):c.6505del (p.Val2169fs)
|
rs1057516476
|
|
NM_198129.4(LAMA3):c.6507G>A (p.Val2169=)
|
rs2081181550
|
|
NM_198129.4(LAMA3):c.6532_6534del (p.Ala2178del)
|
rs1555732875
|
|
NM_198129.4(LAMA3):c.6567del (p.Glu2190fs)
|
rs1555732939
|
|
NM_198129.4(LAMA3):c.6616-13G>T
|
rs886053672
|
|
NM_198129.4(LAMA3):c.6690C>T (p.Ala2230=)
|
rs886053673
|
|
NM_198129.4(LAMA3):c.6708_6711delinsCCT (p.Lys2236fs)
|
rs1057517196
|
|
NM_198129.4(LAMA3):c.6719-2A>G
|
rs1555734356
|
|
NM_198129.4(LAMA3):c.6836-2A>G
|
rs1555734513
|
|
NM_198129.4(LAMA3):c.6836-36_6836-16del
|
rs1555734493
|
|
NM_198129.4(LAMA3):c.6943A>T (p.Arg2315Ter)
|
rs80356679
|
|
NM_198129.4(LAMA3):c.7054A>T (p.Lys2352Ter)
|
rs765104557
|
|
NM_198129.4(LAMA3):c.7075C>T (p.Gln2359Ter)
|
rs1555735252
|
|
NM_198129.4(LAMA3):c.7080G>A (p.Leu2360=)
|
rs763710322
|
|
NM_198129.4(LAMA3):c.7121G>A (p.Arg2374Gln)
|
rs563440658
|
|
NM_198129.4(LAMA3):c.7165del (p.Val2389fs)
|
rs1555736532
|
|
NM_198129.4(LAMA3):c.7219del (p.Leu2407fs)
|
rs1555736608
|
|
NM_198129.4(LAMA3):c.7238A>G (p.Tyr2413Cys)
|
rs2081478735
|
|
NM_198129.4(LAMA3):c.7267C>G (p.Pro2423Ala)
|
rs1479257477
|
|
NM_198129.4(LAMA3):c.7343_7346del (p.Tyr2448fs)
|
rs1555737473
|
|
NM_198129.4(LAMA3):c.734del (p.Phe245fs)
|
rs1555684238
|
|
NM_198129.4(LAMA3):c.7352del (p.Met2451fs)
|
rs1555737509
|
|
NM_198129.4(LAMA3):c.7459A>T (p.Met2487Leu)
|
rs1085308017
|
|
NM_198129.4(LAMA3):c.7461_7481+17del
|
rs1555737629
|
|
NM_198129.4(LAMA3):c.7482-5A>C
|
rs780657629
|
|
NM_198129.4(LAMA3):c.7489C>T (p.Gln2497Ter)
|
rs1555737779
|
|
NM_198129.4(LAMA3):c.7519G>A (p.Ala2507Thr)
|
rs187899159
|
|
NM_198129.4(LAMA3):c.7590T>C (p.Asn2530=)
|
rs886053674
|
|
NM_198129.4(LAMA3):c.7677del (p.Gly2560fs)
|
rs1057516605
|
|
NM_198129.4(LAMA3):c.7779-8G>C
|
rs2081627708
|
|
NM_198129.4(LAMA3):c.7820del (p.Gly2607fs)
|
rs1356353167
|
|
NM_198129.4(LAMA3):c.7828C>T (p.Arg2610Ter)
|
rs768415785
|
|
NM_198129.4(LAMA3):c.7928G>T (p.Arg2643Leu)
|
rs45516998
|
|
NM_198129.4(LAMA3):c.7964T>C (p.Met2655Thr)
|
rs1202609679
|
|
NM_198129.4(LAMA3):c.8004_8005del (p.Gly2669fs)
|
rs1303193834
|
|
NM_198129.4(LAMA3):c.8043+2T>C
|
rs1555740717
|
|
NM_198129.4(LAMA3):c.8081G>A (p.Trp2694Ter)
|
rs1555740945
|
|
NM_198129.4(LAMA3):c.8095G>A (p.Val2699Ile)
|
rs886053675
|
|
NM_198129.4(LAMA3):c.8102del (p.Asn2701fs)
|
rs1555740963
|
|
NM_198129.4(LAMA3):c.8138C>T (p.Thr2713Ile)
|
rs745387872
|
|
NM_198129.4(LAMA3):c.8177+2T>G
|
rs786204732
|
|
NM_198129.4(LAMA3):c.8278T>G (p.Cys2760Gly)
|
rs886053676
|
|
NM_198129.4(LAMA3):c.8292G>A (p.Trp2764Ter)
|
rs1555743454
|
|
NM_198129.4(LAMA3):c.8302C>T (p.Arg2768Ter)
|
rs998162536
|
|
NM_198129.4(LAMA3):c.8327G>A (p.Gly2776Glu)
|
rs886053677
|
|
NM_198129.4(LAMA3):c.8381C>T (p.Ser2794Leu)
|
rs2145377026
|
|
NM_198129.4(LAMA3):c.839C>T (p.Pro280Leu)
|
rs2143574692
|
|
NM_198129.4(LAMA3):c.8436G>A (p.Trp2812Ter)
|
rs1057516764
|
|
NM_198129.4(LAMA3):c.856-2A>G
|
rs757101344
|
|
NM_198129.4(LAMA3):c.8576+1G>A
|
rs1555744805
|
|
NM_198129.4(LAMA3):c.8576+2T>G
|
rs1555744812
|
|
NM_198129.4(LAMA3):c.8576+7G>C
|
rs1258107
|
|
NM_198129.4(LAMA3):c.8576+7G>T
|
rs1258107
|
|
NM_198129.4(LAMA3):c.8622G>T (p.Arg2874Ser)
|
rs747663607
|
|
NM_198129.4(LAMA3):c.8626_8627insC (p.Lys2876fs)
|
rs1555745207
|
|
NM_198129.4(LAMA3):c.8664_8673dup (p.Phe2892fs)
|
rs1555745263
|
|
NM_198129.4(LAMA3):c.8708+1G>T
|
rs754558574
|
|
NM_198129.4(LAMA3):c.8708+2T>G
|
rs1555745317
|
|
NM_198129.4(LAMA3):c.8708+4G>A
|
rs200417639
|
|
NM_198129.4(LAMA3):c.8786T>G (p.Leu2929Ter)
|
rs1401574168
|
|
NM_198129.4(LAMA3):c.8827del (p.Arg2943fs)
|
rs1555746079
|
|
NM_198129.4(LAMA3):c.8891dup (p.Arg2965fs)
|
rs34754160
|
|
NM_198129.4(LAMA3):c.8971dup (p.Asp2991fs)
|
rs1057517211
|
|
NM_198129.4(LAMA3):c.9011A>G (p.Glu3004Gly)
|
rs2082417119
|
|
NM_198129.4(LAMA3):c.9028T>G (p.Ser3010Ala)
|
rs886053678
|
|
NM_198129.4(LAMA3):c.9114T>G (p.Tyr3038Ter)
|
rs1555751423
|
|
NM_198129.4(LAMA3):c.916G>T (p.Glu306Ter)
|
rs771405735
|
|
NM_198129.4(LAMA3):c.9176del (p.Ser3059fs)
|
rs1555751482
|
|
NM_198129.4(LAMA3):c.9202del (p.Trp3068fs)
|
rs1555751529
|
|
NM_198129.4(LAMA3):c.9293CCA[1] (p.Thr3099del)
|
rs1555752733
|
|
NM_198129.4(LAMA3):c.9352-1G>C
|
rs1057517272
|
|
NM_198129.4(LAMA3):c.938del (p.Pro313fs)
|
rs1555684952
|
|
NM_198129.4(LAMA3):c.9400del (p.Asp3134fs)
|
rs1555754450
|
|
NM_198129.4(LAMA3):c.9419C>T (p.Thr3140Ile)
|
rs758888193
|
|
NM_198129.4(LAMA3):c.9512-11T>C
|
rs776372744
|
|
NM_198129.4(LAMA3):c.9512-1G>T
|
rs1555754655
|
|
NM_198129.4(LAMA3):c.9575del (p.Thr3192fs)
|
rs1057517440
|
|
NM_198129.4(LAMA3):c.9597_9599dup (p.Gly3199_Ser3200insArg)
|
rs750402445
|
|
NM_198129.4(LAMA3):c.9735A>T (p.Ala3245=)
|
rs2082923791
|
|
NM_198129.4(LAMA3):c.9736+1G>C
|
rs1234435123
|
|
NM_198129.4(LAMA3):c.9738C>T (p.Val3246=)
|
rs886053679
|
|
NM_198129.4(LAMA3):c.9848del (p.Gly3283fs)
|
rs1555756067
|
|
NM_198129.4(LAMA3):c.9937G>C (p.Val3313Leu)
|
rs377024118
|
|
NM_198129.4(LAMA3):c.9980del (p.Leu3327fs)
|
rs1555756775
|
|