NM_000426.4(LAMA2):c.381C>A (p.Thr127=)
|
rs4404787
|
0.95273
|
NM_000426.4(LAMA2):c.7830G>C (p.Val2610=)
|
rs2229849
|
0.63028
|
NM_000426.4(LAMA2):c.7760C>T (p.Ala2587Val)
|
rs2229848
|
0.62946
|
NM_000426.4(LAMA2):c.5466A>G (p.Glu1822=)
|
rs3749877
|
0.50817
|
NM_000426.4(LAMA2):c.5502G>A (p.Glu1834=)
|
rs3749878
|
0.50693
|
NM_000426.4(LAMA2):c.5727-24T>A
|
rs3828735
|
0.50074
|
NM_000426.4(LAMA2):c.5727-22C>T
|
rs80125253
|
0.50051
|
NM_000426.4(LAMA2):c.5727-21T>G
|
rs76902576
|
0.50019
|
NM_000426.4(LAMA2):c.7760= (p.Ala2587=)
|
rs2229848
|
0.37054
|
NM_000426.4(LAMA2):c.7845G>A (p.Pro2615=)
|
rs2229850
|
0.35164
|
NM_000426.4(LAMA2):c.3174+38A>G
|
rs902373
|
0.33937
|
NM_000426.4(LAMA2):c.2799A>G (p.Gln933=)
|
rs1027199
|
0.26612
|
NM_000426.4(LAMA2):c.1856G>A (p.Arg619His)
|
rs3816665
|
0.25723
|
NM_000426.4(LAMA2):c.3411+13G>A
|
rs3798663
|
0.25503
|
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met)
|
rs2306942
|
0.09135
|
NM_000426.4(LAMA2):c.7906A>G (p.Thr2636Ala)
|
rs2244008
|
0.08650
|
NM_000426.4(LAMA2):c.156C>T (p.Ile52=)
|
rs1140366
|
0.08370
|
NM_000426.4(LAMA2):c.4523+19C>T
|
rs17057158
|
0.08168
|
NM_000426.4(LAMA2):c.4956C>G (p.Thr1652=)
|
rs17057184
|
0.07998
|
NM_000426.4(LAMA2):c.8028T>C (p.Asn2676=)
|
rs35313209
|
0.02285
|
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser)
|
rs73599293
|
0.02196
|
NM_000426.4(LAMA2):c.8691A>G (p.Arg2897=)
|
rs2228599
|
0.01648
|
NM_000426.4(LAMA2):c.3613A>G (p.Thr1205Ala)
|
rs35889149
|
0.01262
|
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser)
|
rs34367843
|
0.00914
|
NM_000426.4(LAMA2):c.8548-10T>C
|
rs113644365
|
0.00865
|
NM_000426.4(LAMA2):c.1403C>G (p.Ala468Gly)
|
rs111695726
|
0.00720
|
NM_000426.4(LAMA2):c.8774C>T (p.Pro2925Leu)
|
rs77113162
|
0.00635
|
NM_000426.4(LAMA2):c.6150T>C (p.Asp2050=)
|
rs114766691
|
0.00339
|
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)
|
rs147077184
|
0.00338
|
NM_000426.4(LAMA2):c.8755C>T (p.Pro2919Ser)
|
rs143026295
|
0.00224
|
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met)
|
rs117422805
|
0.00173
|
NM_000426.4(LAMA2):c.1650C>T (p.Gly550=)
|
rs899353
|
0.00120
|
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)
|
rs56035053
|
0.00098
|
NM_000426.4(LAMA2):c.9211+6T>C
|
rs201375881
|
0.00091
|
NM_000426.4(LAMA2):c.1400A>G (p.Lys467Arg)
|
rs138162760
|
0.00071
|
NM_000426.4(LAMA2):c.946G>A (p.Asp316Asn)
|
rs141340479
|
0.00067
|
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr)
|
rs34505698
|
0.00066
|
NM_000426.4(LAMA2):c.6268+5G>C
|
rs182064878
|
0.00066
|
NM_000426.4(LAMA2):c.7250A>G (p.His2417Arg)
|
rs147185142
|
0.00053
|
NM_000426.4(LAMA2):c.6269-831C>G
|
rs371162111
|
0.00047
|
NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys)
|
rs192317605
|
0.00039
|
NM_000426.4(LAMA2):c.3244C>T (p.His1082Tyr)
|
rs146490004
|
0.00028
|
NM_000426.4(LAMA2):c.5509G>A (p.Asp1837Asn)
|
rs749423866
|
0.00026
|
NM_000426.4(LAMA2):c.6229G>A (p.Ala2077Thr)
|
rs142264176
|
0.00026
|
NM_000426.4(LAMA2):c.6832A>G (p.Met2278Val)
|
rs146854942
|
0.00026
|
NM_000426.4(LAMA2):c.4010A>G (p.His1337Arg)
|
rs139739075
|
0.00024
|
NM_000426.4(LAMA2):c.4205G>A (p.Arg1402His)
|
rs144830879
|
0.00024
|
NM_000426.4(LAMA2):c.5405G>T (p.Arg1802Leu)
|
rs141235562
|
0.00022
|
NM_000426.4(LAMA2):c.8905C>T (p.Arg2969Cys)
|
rs374888837
|
0.00021
|
NM_000426.4(LAMA2):c.8920A>T (p.Thr2974Ser)
|
rs140202046
|
0.00021
|
NM_000426.4(LAMA2):c.7415G>T (p.Gly2472Val)
|
rs200921233
|
0.00019
|
NM_000426.4(LAMA2):c.7088C>T (p.Thr2363Ile)
|
rs371403343
|
0.00017
|
NM_000426.4(LAMA2):c.8989-12C>G
|
rs144860334
|
0.00017
|
NM_000426.4(LAMA2):c.7057C>T (p.Arg2353Cys)
|
rs145885540
|
0.00016
|
NM_000426.4(LAMA2):c.4969G>A (p.Val1657Met)
|
rs370971334
|
0.00014
|
NM_000426.4(LAMA2):c.542A>G (p.Asn181Ser)
|
rs143664472
|
0.00014
|
NM_000426.4(LAMA2):c.8011C>A (p.Pro2671Thr)
|
rs780695627
|
0.00014
|
NM_000426.4(LAMA2):c.9188C>A (p.Pro3063His)
|
rs151285465
|
0.00014
|
NM_000426.4(LAMA2):c.6322C>T (p.Arg2108Trp)
|
rs139824017
|
0.00012
|
NM_000426.4(LAMA2):c.725G>A (p.Arg242His)
|
rs373570586
|
0.00012
|
NM_000426.4(LAMA2):c.1373G>A (p.Arg458Lys)
|
rs140604077
|
0.00011
|
NM_000426.4(LAMA2):c.8842G>A (p.Gly2948Ser)
|
rs143638361
|
0.00011
|
NM_000426.4(LAMA2):c.8907C>T (p.Arg2969=)
|
rs367622610
|
0.00011
|
NM_000426.4(LAMA2):c.1391C>T (p.Pro464Leu)
|
rs150394215
|
0.00010
|
NM_000426.4(LAMA2):c.2240G>C (p.Gly747Ala)
|
rs139843107
|
0.00010
|
NM_000426.4(LAMA2):c.4048C>T (p.Arg1350Ter)
|
rs756854513
|
0.00010
|
NM_000426.4(LAMA2):c.9161C>A (p.Ala3054Glu)
|
rs151049890
|
0.00010
|
NM_000426.4(LAMA2):c.715C>T (p.Arg239Cys)
|
rs145465528
|
0.00009
|
NM_000426.4(LAMA2):c.4075A>G (p.Met1359Val)
|
rs749372185
|
0.00008
|
NM_000426.4(LAMA2):c.6563G>A (p.Ser2188Asn)
|
rs372592018
|
0.00008
|
NM_000426.4(LAMA2):c.9328G>A (p.Glu3110Lys)
|
rs140829166
|
0.00008
|
NM_000426.4(LAMA2):c.2054T>G (p.Leu685Arg)
|
rs746641607
|
0.00007
|
NM_000426.4(LAMA2):c.5179G>C (p.Glu1727Gln)
|
rs374201203
|
0.00007
|
NM_000426.4(LAMA2):c.711C>T (p.Ser237=)
|
rs369745832
|
0.00007
|
NM_000426.4(LAMA2):c.7486C>T (p.Leu2496Phe)
|
rs970365005
|
0.00007
|
NM_000426.4(LAMA2):c.1300C>T (p.Arg434Ter)
|
rs1374568851
|
0.00006
|
NM_000426.4(LAMA2):c.3662T>G (p.Met1221Arg)
|
rs140895872
|
0.00006
|
NM_000426.4(LAMA2):c.3862G>A (p.Val1288Ile)
|
rs758134778
|
0.00006
|
NM_000426.4(LAMA2):c.409G>A (p.Ala137Thr)
|
rs368349321
|
0.00006
|
NM_000426.4(LAMA2):c.5072-9C>A
|
rs770904109
|
0.00006
|
NM_000426.4(LAMA2):c.5158G>C (p.Glu1720Gln)
|
rs760572086
|
0.00006
|
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer)
|
rs794727594
|
0.00006
|
NM_000426.4(LAMA2):c.7978C>A (p.Leu2660Ile)
|
rs201587923
|
0.00006
|
NM_000426.4(LAMA2):c.8326A>T (p.Ile2776Phe)
|
rs569286697
|
0.00006
|
NM_000426.4(LAMA2):c.8524A>G (p.Ile2842Val)
|
rs140178576
|
0.00006
|
NM_000426.4(LAMA2):c.8836G>A (p.Gly2946Arg)
|
rs370843758
|
0.00006
|
NM_000426.4(LAMA2):c.9145C>G (p.Gln3049Glu)
|
rs146525742
|
0.00006
|
NM_000426.4(LAMA2):c.1084A>T (p.Arg362Ter)
|
rs191912891
|
0.00005
|
NM_000426.4(LAMA2):c.1586G>A (p.Ser529Asn)
|
rs370691060
|
0.00005
|
NM_000426.4(LAMA2):c.3403A>C (p.Thr1135Pro)
|
rs760558443
|
0.00005
|
NM_000426.4(LAMA2):c.5562+1G>A
|
rs376014152
|
0.00005
|
NM_000426.4(LAMA2):c.8570A>G (p.Gln2857Arg)
|
rs372956200
|
0.00005
|
NM_000426.4(LAMA2):c.149C>T (p.Ala50Val)
|
rs191899712
|
0.00004
|
NM_000426.4(LAMA2):c.2512G>A (p.Gly838Arg)
|
rs150361703
|
0.00004
|
NM_000426.4(LAMA2):c.4118C>T (p.Pro1373Leu)
|
rs754163400
|
0.00004
|
NM_000426.4(LAMA2):c.5050G>A (p.Glu1684Lys)
|
rs201632009
|
0.00004
|
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)
|
rs121913572
|
0.00004
|
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu)
|
rs398123388
|
0.00004
|
NM_000426.4(LAMA2):c.8497G>T (p.Asp2833Tyr)
|
rs794727815
|
0.00004
|
NM_000426.4(LAMA2):c.2451-2A>G
|
rs993196576
|
0.00003
|
NM_000426.4(LAMA2):c.2477G>A (p.Arg826Gln)
|
rs759973830
|
0.00003
|
NM_000426.4(LAMA2):c.2609A>G (p.Asn870Ser)
|
rs1322715021
|
0.00003
|
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.4471G>A (p.Asp1491Asn)
|
rs375640462
|
0.00003
|
NM_000426.4(LAMA2):c.4960-17C>A
|
rs758048596
|
0.00003
|
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter)
|
rs747349942
|
0.00003
|
NM_000426.4(LAMA2):c.5477G>A (p.Arg1826Gln)
|
rs373614496
|
0.00003
|
NM_000426.4(LAMA2):c.6269-829A>G
|
rs758519410
|
0.00003
|
NM_000426.4(LAMA2):c.640-1G>A
|
rs1296761337
|
0.00003
|
NM_000426.4(LAMA2):c.6702A>T (p.Ala2234=)
|
rs372212378
|
0.00003
|
NM_000426.4(LAMA2):c.712G>A (p.Ala238Thr)
|
rs779975082
|
0.00003
|
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs)
|
rs1209130981
|
0.00003
|
NM_000426.4(LAMA2):c.1495C>T (p.Arg499Cys)
|
rs143626559
|
0.00002
|
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.3279C>T (p.Cys1093=)
|
rs371376404
|
0.00002
|
NM_000426.4(LAMA2):c.4176+1G>A
|
rs1404492484
|
0.00002
|
NM_000426.4(LAMA2):c.4188G>A (p.Pro1396=)
|
rs369076029
|
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.5593C>T (p.Pro1865Ser)
|
rs563638833
|
0.00002
|
NM_000426.4(LAMA2):c.6429+1G>T
|
rs1262029350
|
0.00002
|
NM_000426.4(LAMA2):c.6786G>A (p.Ser2262=)
|
rs398123382
|
0.00002
|
NM_000426.4(LAMA2):c.7231G>A (p.Val2411Ile)
|
rs199814707
|
0.00002
|
NM_000426.4(LAMA2):c.7377dup (p.Leu2460fs)
|
rs749566145
|
0.00002
|
NM_000426.4(LAMA2):c.7630A>G (p.Ile2544Val)
|
rs147430700
|
0.00002
|
NM_000426.4(LAMA2):c.7658del (p.Ser2553fs)
|
rs1293303410
|
0.00002
|
NM_000426.4(LAMA2):c.848T>C (p.Val283Ala)
|
rs376917587
|
0.00002
|
NM_000426.4(LAMA2):c.9014C>T (p.Ala3005Val)
|
rs75048006
|
0.00002
|
NM_000426.4(LAMA2):c.112+1G>A
|
rs398123367
|
0.00001
|
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter)
|
rs773209126
|
0.00001
|
NM_000426.4(LAMA2):c.1364G>A (p.Arg455Gln)
|
rs201177178
|
0.00001
|
NM_000426.4(LAMA2):c.1782+2dup
|
rs1272011145
|
0.00001
|
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs)
|
rs202247791
|
0.00001
|
NM_000426.4(LAMA2):c.2037G>C (p.Ala679=)
|
rs398123369
|
0.00001
|
NM_000426.4(LAMA2):c.2089A>G (p.Ile697Val)
|
rs778059153
|
0.00001
|
NM_000426.4(LAMA2):c.2176T>C (p.Cys726Arg)
|
rs920771326
|
0.00001
|
NM_000426.4(LAMA2):c.2322+1G>C
|
rs945091158
|
0.00001
|
NM_000426.4(LAMA2):c.2323-1G>T
|
rs1278823424
|
0.00001
|
NM_000426.4(LAMA2):c.2375T>C (p.Phe792Ser)
|
rs398123370
|
0.00001
|
NM_000426.4(LAMA2):c.2451-1del
|
rs767784355
|
0.00001
|
NM_000426.4(LAMA2):c.2451-6A>G
|
rs896691971
|
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.3019C>T (p.Gln1007Ter)
|
rs752094219
|
0.00001
|
NM_000426.4(LAMA2):c.307A>G (p.Ile103Val)
|
rs369978622
|
0.00001
|
NM_000426.4(LAMA2):c.3110T>C (p.Ile1037Thr)
|
rs797045679
|
0.00001
|
NM_000426.4(LAMA2):c.329G>A (p.Trp110Ter)
|
rs1441933780
|
0.00001
|
NM_000426.4(LAMA2):c.3444C>A (p.Cys1148Ter)
|
rs1383756739
|
0.00001
|
NM_000426.4(LAMA2):c.3508G>A (p.Gly1170Ser)
|
rs747246881
|
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.3803C>T (p.Ser1268Phe)
|
rs776042035
|
0.00001
|
NM_000426.4(LAMA2):c.3861C>T (p.Ile1287=)
|
rs138702650
|
0.00001
|
NM_000426.4(LAMA2):c.396+1G>T
|
rs770617208
|
0.00001
|
NM_000426.4(LAMA2):c.4107_4109del (p.Met1370del)
|
rs1446213044
|
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.443G>A (p.Arg148Gln)
|
rs148103319
|
0.00001
|
NM_000426.4(LAMA2):c.4640C>T (p.Thr1547Met)
|
rs778106503
|
0.00001
|
NM_000426.4(LAMA2):c.4645C>T (p.Arg1549Ter)
|
rs121913575
|
0.00001
|
NM_000426.4(LAMA2):c.4699G>A (p.Glu1567Lys)
|
rs371388948
|
0.00001
|
NM_000426.4(LAMA2):c.4858A>T (p.Lys1620Ter)
|
rs762342110
|
0.00001
|
NM_000426.4(LAMA2):c.5072-3C>A
|
rs759155854
|
0.00001
|
NM_000426.4(LAMA2):c.5234+1G>A
|
rs781376927
|
0.00001
|
NM_000426.4(LAMA2):c.5285G>A (p.Arg1762Gln)
|
rs138296015
|
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.5938G>A (p.Glu1980Lys)
|
rs769574222
|
0.00001
|
NM_000426.4(LAMA2):c.6269-820A>G
|
rs544696321
|
0.00001
|
NM_000426.4(LAMA2):c.6269-855A>T
|
rs1554297879
|
0.00001
|
NM_000426.4(LAMA2):c.6269-856C>G
|
rs763589558
|
0.00001
|
NM_000426.4(LAMA2):c.6520G>A (p.Val2174Ile)
|
rs566853691
|
0.00001
|
NM_000426.4(LAMA2):c.6599G>A (p.Arg2200His)
|
rs779326725
|
0.00001
|
NM_000426.4(LAMA2):c.6624G>C (p.Trp2208Cys)
|
rs1294289973
|
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.7074C>A (p.Tyr2358Ter)
|
rs762806915
|
0.00001
|
NM_000426.4(LAMA2):c.716G>A (p.Arg239His)
|
rs776777494
|
0.00001
|
NM_000426.4(LAMA2):c.7283C>G (p.Ser2428Ter)
|
rs776104105
|
0.00001
|
NM_000426.4(LAMA2):c.7369A>C (p.Asn2457His)
|
rs797045680
|
0.00001
|
NM_000426.4(LAMA2):c.7526T>A (p.Leu2509His)
|
rs578183193
|
0.00001
|
NM_000426.4(LAMA2):c.7553C>A (p.Thr2518Asn)
|
rs1313279253
|
0.00001
|
NM_000426.4(LAMA2):c.7572+1G>A
|
rs1554305006
|
0.00001
|
NM_000426.4(LAMA2):c.7691T>C (p.Leu2564Pro)
|
rs121913570
|
0.00001
|
NM_000426.4(LAMA2):c.7898+12A>G
|
rs572960610
|
0.00001
|
NM_000426.4(LAMA2):c.8244+1G>A
|
rs749522728
|
0.00001
|
NM_000426.4(LAMA2):c.8398G>A (p.Gly2800Ser)
|
rs758491978
|
0.00001
|
NM_000426.4(LAMA2):c.8536C>T (p.Gln2846Ter)
|
rs1463264889
|
0.00001
|
NM_000426.4(LAMA2):c.9217C>T (p.Leu3073Phe)
|
rs1315125567
|
0.00001
|
NM_000426.4(LAMA2):c.9295A>T (p.Lys3099Ter)
|
rs749797580
|
0.00001
|
NC_000006.12:g.128960376_129175759del
|
|
|
NM_000426.3(LAMA2):c.6993_7155del163 (p.Ser2331Argfs)
|
rs1554301637
|
|
NM_000426.3(LAMA2):c.[2049_2050delAG];[523G>T]
|
|
|
NM_000426.3(LAMA2):c.[2461A>C;8282T>C]
|
|
|
NM_000426.3(LAMA2):c.[7691T>C];[9253C>T]
|
|
|
NM_000426.4(LAMA2):c.1011del (p.Thr339fs)
|
|
|
NM_000426.4(LAMA2):c.1027+1G>T
|
rs1064797327
|
|
NM_000426.4(LAMA2):c.1051G>T (p.Glu351Ter)
|
rs1778991422
|
|
NM_000426.4(LAMA2):c.1065T>A (p.Tyr355Ter)
|
rs1436470033
|
|
NM_000426.4(LAMA2):c.106C>T (p.Gln36Ter)
|
rs1360796756
|
|
NM_000426.4(LAMA2):c.1097T>A (p.Leu366Ter)
|
|
|
NM_000426.4(LAMA2):c.112+1G>T
|
|
|
NM_000426.4(LAMA2):c.1121_1129delinsTACTT (p.Gly374fs)
|
|
|
NM_000426.4(LAMA2):c.1122del (p.Gly376fs)
|
rs1338860420
|
|
NM_000426.4(LAMA2):c.113-2A>C
|
|
|
NM_000426.4(LAMA2):c.113-639del
|
rs1787824675
|
|
NM_000426.4(LAMA2):c.1188dup (p.Phe397fs)
|
|
|
NM_000426.4(LAMA2):c.1195_1198del (p.Arg399fs)
|
|
|
NM_000426.4(LAMA2):c.1206G>C (p.Gly402=)
|
rs1167723109
|
|
NM_000426.4(LAMA2):c.1207-1G>A
|
|
|
NM_000426.4(LAMA2):c.1233C>A (p.Cys411Ter)
|
|
|
NM_000426.4(LAMA2):c.1255del (p.Ile419fs)
|
rs1185229314
|
|
NM_000426.4(LAMA2):c.1263del (p.Ser421_Leu422insTer)
|
rs1779702214
|
|
NM_000426.4(LAMA2):c.1278T>A (p.Cys426Ter)
|
rs1779703136
|
|
NM_000426.4(LAMA2):c.1282_1283dup (p.Asp429fs)
|
rs2114993311
|
|
NM_000426.4(LAMA2):c.1289_1290insT (p.Glu430fs)
|
|
|
NM_000426.4(LAMA2):c.1306+2T>G
|
rs1326401124
|
|
NM_000426.4(LAMA2):c.1307-1G>A
|
rs1554234051
|
|
NM_000426.4(LAMA2):c.1307-2A>G
|
|
|
NM_000426.4(LAMA2):c.1358G>C (p.Cys453Ser)
|
rs1554234086
|
|
NM_000426.4(LAMA2):c.1365del (p.Cys456fs)
|
|
|
NM_000426.4(LAMA2):c.1415_1429del (p.Ser472_Ser476del)
|
rs1554234118
|
|
NM_000426.4(LAMA2):c.1429A>T (p.Lys477Ter)
|
|
|
NM_000426.4(LAMA2):c.1454C>T (p.Pro485Leu)
|
rs146522136
|
|
NM_000426.4(LAMA2):c.1464C>A (p.Cys488Ter)
|
rs1780700010
|
|
NM_000426.4(LAMA2):c.1467+2T>C
|
rs1554234163
|
|
NM_000426.4(LAMA2):c.1490_1491del (p.Asp496_Cys497insTer)
|
|
|
NM_000426.4(LAMA2):c.1522C>T (p.Gln508Ter)
|
|
|
NM_000426.4(LAMA2):c.1533_1534insG (p.Trp512fs)
|
|
|
NM_000426.4(LAMA2):c.155T>G (p.Ile52Ser)
|
rs1380745222
|
|
NM_000426.4(LAMA2):c.1560T>A (p.Cys520Ter)
|
rs1781455687
|
|
NM_000426.4(LAMA2):c.1561_1562del (p.Ser521fs)
|
|
|
NM_000426.4(LAMA2):c.1612C>T (p.Gln538Ter)
|
rs1781592001
|
|
NM_000426.4(LAMA2):c.1629G>A (p.Trp543Ter)
|
|
|
NM_000426.4(LAMA2):c.1638_1641del (p.Asp547fs)
|
|
|
NM_000426.4(LAMA2):c.1657C>T (p.Arg553Ter)
|
rs1303773212
|
|
NM_000426.4(LAMA2):c.1669CAG[1] (p.Gln558del)
|
rs775570308
|
|
NM_000426.4(LAMA2):c.1669del (p.Gln557fs)
|
|
|
NM_000426.4(LAMA2):c.1682_1688del (p.Leu561fs)
|
|
|
NM_000426.4(LAMA2):c.1686_1687insA (p.Ser563fs)
|
|
|
NM_000426.4(LAMA2):c.16_49del (p.Gly6fs)
|
|
|
NM_000426.4(LAMA2):c.1727_1767del (p.Gln576fs)
|
rs1583219849
|
|
NM_000426.4(LAMA2):c.172T>C (p.Cys58Arg)
|
rs1731993495
|
|
NM_000426.4(LAMA2):c.1749C>G (p.Tyr583Ter)
|
|
|
NM_000426.4(LAMA2):c.1752G>A (p.Trp584Ter)
|
rs1781606569
|
|
NM_000426.4(LAMA2):c.1755C>T (p.Ser585=)
|
rs1012171328
|
|
NM_000426.4(LAMA2):c.176G>A (p.Gly59Glu)
|
rs748303070
|
|
NM_000426.4(LAMA2):c.1782_1782+1delinsT
|
|
|
NM_000426.4(LAMA2):c.1793_1795del (p.Val598del)
|
rs1165542235
|
|
NM_000426.4(LAMA2):c.1795GGA[1] (p.Gly600del)
|
rs753417521
|
|
NM_000426.4(LAMA2):c.1823_1824del (p.Ser607_Tyr608insTer)
|
|
|
NM_000426.4(LAMA2):c.1831G>T (p.Glu611Ter)
|
rs1786068382
|
|
NM_000426.4(LAMA2):c.1834G>T (p.Glu612Ter)
|
rs1786068836
|
|
NM_000426.4(LAMA2):c.183del (p.Gly62fs)
|
|
|
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.1893_1897del (p.Asp631fs)
|
rs746844753
|
|
NM_000426.4(LAMA2):c.190G>T (p.Glu64Ter)
|
rs1231305572
|
|
NM_000426.4(LAMA2):c.1929_1931delinsT (p.His644fs)
|
|
|
NM_000426.4(LAMA2):c.1942G>T (p.Glu648Ter)
|
rs1786301728
|
|
NM_000426.4(LAMA2):c.1973_1991delinsTAA (p.Glu658fs)
|
|
|
NM_000426.4(LAMA2):c.1976C>A (p.Ser659Ter)
|
|
|
NM_000426.4(LAMA2):c.198C>A (p.Tyr66Ter)
|
rs1042843028
|
|
NM_000426.4(LAMA2):c.2006_2012del (p.Val669fs)
|
|
|
NM_000426.4(LAMA2):c.2044A>T (p.Lys682Ter)
|
rs1786309995
|
|
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)
|
rs202247790
|
|
NM_000426.4(LAMA2):c.2054T>C (p.Leu685Pro)
|
rs746641607
|
|
NM_000426.4(LAMA2):c.2069A>G (p.Tyr690Cys)
|
rs2114287747
|
|
NM_000426.4(LAMA2):c.2096+1G>A
|
rs1554256965
|
|
NM_000426.4(LAMA2):c.2116G>T (p.Glu706Ter)
|
rs1787059737
|
|
NM_000426.4(LAMA2):c.2164G>A (p.Glu722Lys)
|
|
|
NM_000426.4(LAMA2):c.2166dup (p.Val723fs)
|
|
|
NM_000426.4(LAMA2):c.21CCT[4] (p.Leu13dup)
|
rs1347823295
|
|
NM_000426.4(LAMA2):c.2217G>A (p.Trp739Ter)
|
rs192317605
|
|
NM_000426.4(LAMA2):c.2230C>T (p.Arg744Ter)
|
rs775676341
|
|
NM_000426.4(LAMA2):c.2233dup (p.Val745fs)
|
|
|
NM_000426.4(LAMA2):c.2323-1G>A
|
rs1278823424
|
|
NM_000426.4(LAMA2):c.2323-2A>T
|
|
|
NM_000426.4(LAMA2):c.2328T>A (p.Cys776Ter)
|
rs1787862380
|
|
NM_000426.4(LAMA2):c.2348del (p.Pro783fs)
|
|
|
NM_000426.4(LAMA2):c.2350dup (p.Tyr784fs)
|
rs1554260284
|
|
NM_000426.4(LAMA2):c.2383G>T (p.Glu795Ter)
|
|
|
NM_000426.4(LAMA2):c.2395G>T (p.Gly799Ter)
|
|
|
NM_000426.4(LAMA2):c.2400_2401insAGGAAGACATTTA (p.Ser801fs)
|
|
|
NM_000426.4(LAMA2):c.2404G>T (p.Glu802Ter)
|
|
|
NM_000426.4(LAMA2):c.2450+5_2450+8del
|
rs1554260313
|
|
NM_000426.4(LAMA2):c.2461A>C (p.Thr821Pro)
|
rs186538779
|
|
NM_000426.4(LAMA2):c.2461_2476del (p.Thr821fs)
|
|
|
NM_000426.4(LAMA2):c.2471T>A (p.Leu824Ter)
|
|
|
NM_000426.4(LAMA2):c.2514del (p.Tyr839fs)
|
|
|
NM_000426.4(LAMA2):c.2521G>T (p.Gly841Ter)
|
|
|
NM_000426.4(LAMA2):c.2537+1G>C
|
|
|
NM_000426.4(LAMA2):c.2556del (p.Phe852fs)
|
rs750731624
|
|
NM_000426.4(LAMA2):c.2557G>T (p.Gly853Ter)
|
rs1789386860
|
|
NM_000426.4(LAMA2):c.2587C>T (p.Gln863Ter)
|
rs897845923
|
|
NM_000426.4(LAMA2):c.2658T>A (p.Cys886Ter)
|
rs1789395190
|
|
NM_000426.4(LAMA2):c.2670del (p.Lys890fs)
|
|
|
NM_000426.4(LAMA2):c.2703T>A (p.Cys901Ter)
|
rs1789398455
|
|
NM_000426.4(LAMA2):c.2710G>T (p.Gly904Ter)
|
rs1789399141
|
|
NM_000426.4(LAMA2):c.2718del (p.Phe906fs)
|
|
|
NM_000426.4(LAMA2):c.2719G>T (p.Gly907Ter)
|
rs1789399872
|
|
NM_000426.4(LAMA2):c.2723del (p.Asp908fs)
|
|
|
NM_000426.4(LAMA2):c.2749+1G>A
|
rs759555791
|
|
NM_000426.4(LAMA2):c.2768_2771dup (p.Ser925fs)
|
|
|
NM_000426.4(LAMA2):c.2776_2782del (p.Phe926fs)
|
|
|
NM_000426.4(LAMA2):c.2783_2784del (p.Glu928fs)
|
|
|
NM_000426.4(LAMA2):c.2788del (p.Cys930fs)
|
|
|
NM_000426.4(LAMA2):c.2790C>A (p.Cys930Ter)
|
|
|
NM_000426.4(LAMA2):c.2803G>T (p.Gly935Ter)
|
|
|
NM_000426.4(LAMA2):c.2811T>A (p.Cys937Ter)
|
|
|
NM_000426.4(LAMA2):c.2811_2812del (p.Cys937_Glu938delinsTer)
|
|
|
NM_000426.4(LAMA2):c.283+2T>A
|
|
|
NM_000426.4(LAMA2):c.2833G>A (p.Gly945Ser)
|
rs372574661
|
|
NM_000426.4(LAMA2):c.283C>T (p.Gln95Ter)
|
rs1018100729
|
|
NM_000426.4(LAMA2):c.2856+1G>C
|
|
|
NM_000426.4(LAMA2):c.286A>T (p.Arg96Ter)
|
|
|
NM_000426.4(LAMA2):c.2879C>G (p.Ser960Ter)
|
|
|
NM_000426.4(LAMA2):c.2916del (p.Phe972fs)
|
|
|
NM_000426.4(LAMA2):c.2937_2938del (p.Cys979_Glu980delinsTer)
|
|
|
NM_000426.4(LAMA2):c.2950C>T (p.Gln984Ter)
|
rs1773282962
|
|
NM_000426.4(LAMA2):c.2957G>A (p.Trp986Ter)
|
rs1773283278
|
|
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter)
|
rs398123371
|
|
NM_000426.4(LAMA2):c.2968G>T (p.Gly990Ter)
|
rs1187391940
|
|
NM_000426.4(LAMA2):c.3033C>A (p.Cys1011Ter)
|
|
|
NM_000426.4(LAMA2):c.3037+1G>T
|
rs1773291512
|
|
NM_000426.4(LAMA2):c.3089_3126dup (p.Lys1043fs)
|
rs2114460969
|
|
NM_000426.4(LAMA2):c.30_32del (p.Leu13del)
|
rs1278217420
|
|
NM_000426.4(LAMA2):c.3123T>A (p.Cys1041Ter)
|
rs1773502803
|
|
NM_000426.4(LAMA2):c.3139_3140insT (p.Asn1047fs)
|
|
|
NM_000426.4(LAMA2):c.3172A>T (p.Lys1058Ter)
|
rs1583447808
|
|
NM_000426.4(LAMA2):c.3186C>A (p.Cys1062Ter)
|
rs1774316033
|
|
NM_000426.4(LAMA2):c.3232C>T (p.Gln1078Ter)
|
rs2114493974
|
|
NM_000426.4(LAMA2):c.3235T>C (p.Cys1079Arg)
|
rs1583469739
|
|
NM_000426.4(LAMA2):c.3243T>A (p.Cys1081Ter)
|
rs944013929
|
|
NM_000426.4(LAMA2):c.3270T>A (p.Cys1090Ter)
|
rs1774323015
|
|
NM_000426.4(LAMA2):c.3283C>T (p.Arg1095Ter)
|
rs376088608
|
|
NM_000426.4(LAMA2):c.3290_3291del (p.His1097fs)
|
|
|
NM_000426.4(LAMA2):c.3294del (p.His1097_Trp1098insTer)
|
rs764839142
|
|
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser)
|
rs35065563
|
|
NM_000426.4(LAMA2):c.32T>C (p.Leu11Pro)
|
rs730880252
|
|
NM_000426.4(LAMA2):c.3329del (p.Leu1110fs)
|
rs1583470073
|
|
NM_000426.4(LAMA2):c.3409A>T (p.Lys1137Ter)
|
|
|
NM_000426.4(LAMA2):c.3412-2A>C
|
rs1562449164
|
|
NM_000426.4(LAMA2):c.3421del (p.Glu1141fs)
|
|
|
NM_000426.4(LAMA2):c.3454A>T (p.Lys1152Ter)
|
rs1774465781
|
|
NM_000426.4(LAMA2):c.3556-1G>C
|
rs2114501078
|
|
NM_000426.4(LAMA2):c.3562_3563del (p.Leu1188fs)
|
rs1583475938
|
|
NM_000426.4(LAMA2):c.3623_3645del (p.Lys1208fs)
|
rs727503992
|
|
NM_000426.4(LAMA2):c.3630del (p.Ile1210fs)
|
rs398123372
|
|
NM_000426.4(LAMA2):c.3704G>A (p.Trp1235Ter)
|
rs1774541313
|
|
NM_000426.4(LAMA2):c.3705G>A (p.Trp1235Ter)
|
|
|
NM_000426.4(LAMA2):c.370G>T (p.Val124Leu)
|
rs1278777348
|
|
NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter)
|
rs121913569
|
|
NM_000426.4(LAMA2):c.3735+1G>A
|
|
|
NM_000426.4(LAMA2):c.3736-2A>G
|
rs372715292
|
|
NM_000426.4(LAMA2):c.3799_3821del (p.Phe1267fs)
|
rs750220830
|
|
NM_000426.4(LAMA2):c.3886_3889del (p.Ile1296fs)
|
rs1774572282
|
|
NM_000426.4(LAMA2):c.3896T>A (p.Leu1299Ter)
|
|
|
NM_000426.4(LAMA2):c.389del (p.Leu130fs)
|
|
|
NM_000426.4(LAMA2):c.3924+2T>C
|
rs1554269966
|
|
NM_000426.4(LAMA2):c.3938del (p.Tyr1313fs)
|
rs2114502928
|
|
NM_000426.4(LAMA2):c.3955C>T (p.Arg1319Ter)
|
rs1180309541
|
|
NM_000426.4(LAMA2):c.397-4_478del
|
rs1554217494
|
|
NM_000426.4(LAMA2):c.3982del (p.Asp1328fs)
|
|
|
NM_000426.4(LAMA2):c.4019_4024dup (p.Ile1341_Lys1342insIleIle)
|
rs1554270059
|
|
NM_000426.4(LAMA2):c.4058+1G>A
|
rs2114503272
|
|
NM_000426.4(LAMA2):c.4097_4112del (p.Arg1366fs)
|
|
|
NM_000426.4(LAMA2):c.4106del (p.Thr1369fs)
|
|
|
NM_000426.4(LAMA2):c.4110delinsTTTTT (p.Met1370fs)
|
|
|
NM_000426.4(LAMA2):c.4140T>A (p.Cys1380Ter)
|
rs1774908660
|
|
NM_000426.4(LAMA2):c.4146T>A (p.Cys1382Ter)
|
rs1774908820
|
|
NM_000426.4(LAMA2):c.4167_4170del (p.Ser1390fs)
|
|
|
NM_000426.4(LAMA2):c.4198C>T (p.Arg1400Ter)
|
rs775112258
|
|
NM_000426.4(LAMA2):c.4232G>A (p.Gly1411Glu)
|
rs727502850
|
|
NM_000426.4(LAMA2):c.424A>T (p.Lys142Ter)
|
rs1775300950
|
|
NM_000426.4(LAMA2):c.4255_4258dup (p.Cys1420fs)
|
rs2114532990
|
|
NM_000426.4(LAMA2):c.4285dup (p.Cys1429fs)
|
|
|
NM_000426.4(LAMA2):c.4294G>T (p.Glu1432Ter)
|
|
|
NM_000426.4(LAMA2):c.4319_4323del (p.Gln1440fs)
|
|
|
NM_000426.4(LAMA2):c.4378A>T (p.Lys1460Ter)
|
rs1776319116
|
|
NM_000426.4(LAMA2):c.437C>A (p.Ser146Tyr)
|
rs143680577
|
|
NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe)
|
rs143680577
|
|
NM_000426.4(LAMA2):c.4397_4398del (p.Cys1466fs)
|
|
|
NM_000426.4(LAMA2):c.442del (p.Arg148fs)
|
|
|
NM_000426.4(LAMA2):c.442dup (p.Arg148fs)
|
rs1775302275
|
|
NM_000426.4(LAMA2):c.4436+1G>C
|
rs376430565
|
|
NM_000426.4(LAMA2):c.4446del (p.Ser1483fs)
|
|
|
NM_000426.4(LAMA2):c.4459G>T (p.Glu1487Ter)
|
rs1776730034
|
|
NM_000426.4(LAMA2):c.4468GAC[1] (p.Asp1491del)
|
rs1554277753
|
|
NM_000426.4(LAMA2):c.4477C>T (p.Arg1493Cys)
|
rs751053800
|
|
NM_000426.4(LAMA2):c.4504G>T (p.Glu1502Ter)
|
|
|
NM_000426.4(LAMA2):c.4517G>C (p.Cys1506Ser)
|
rs1409043489
|
|
NM_000426.4(LAMA2):c.4523G>A (p.Arg1508Lys)
|
rs770084568
|
|
NM_000426.4(LAMA2):c.4524-2A>T
|
rs1554278541
|
|
NM_000426.4(LAMA2):c.4561G>T (p.Gly1521Ter)
|
rs1776953529
|
|
NM_000426.4(LAMA2):c.4573C>T (p.Gln1525Ter)
|
rs1776953853
|
|
NM_000426.4(LAMA2):c.4576G>T (p.Glu1526Ter)
|
|
|
NM_000426.4(LAMA2):c.4601C>A (p.Ser1534Ter)
|
rs917205971
|
|
NM_000426.4(LAMA2):c.4630G>T (p.Gly1544Ter)
|
rs374207670
|
|
NM_000426.4(LAMA2):c.4660_4668del (p.Gly1554_Lys1556del)
|
rs1554278670
|
|
NM_000426.4(LAMA2):c.4682del (p.Lys1561fs)
|
rs1246940477
|
|
NM_000426.4(LAMA2):c.4692_4695dup (p.Arg1566fs)
|
rs774051471
|
|
NM_000426.4(LAMA2):c.4717+1G>C
|
rs1131691660
|
|
NM_000426.4(LAMA2):c.4717+1G>T
|
rs1131691660
|
|
NM_000426.4(LAMA2):c.4717+5G>A
|
rs776050258
|
|
NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs)
|
rs1392196900
|
|
NM_000426.4(LAMA2):c.4743TCT[1] (p.Leu1583del)
|
rs1554281282
|
|
NM_000426.4(LAMA2):c.4752_4753del (p.Asp1585fs)
|
|
|
NM_000426.4(LAMA2):c.476ATG[1] (p.Asp160del)
|
rs1192484658
|
|
NM_000426.4(LAMA2):c.4819_4825del (p.Lys1607fs)
|
|
|
NM_000426.4(LAMA2):c.4837G>T (p.Glu1613Ter)
|
rs1247084547
|
|
NM_000426.4(LAMA2):c.4861-2A>G
|
rs2114627220
|
|
NM_000426.4(LAMA2):c.4861del (p.His1621fs)
|
|
|
NM_000426.4(LAMA2):c.4874C>T (p.Pro1625Leu)
|
|
|
NM_000426.4(LAMA2):c.4878del (p.Gln1626fs)
|
|
|
NM_000426.4(LAMA2):c.4886dup (p.Glu1630fs)
|
|
|
NM_000426.4(LAMA2):c.4913delinsAATAAAGAGAGACAGCA (p.Gly1638delinsGluTer)
|
|
|
NM_000426.4(LAMA2):c.4936G>T (p.Glu1646Ter)
|
rs748541803
|
|
NM_000426.4(LAMA2):c.4945G>C (p.Glu1649Gln)
|
rs143215851
|
|
NM_000426.4(LAMA2):c.4959+1del
|
rs1583591577
|
|
NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter)
|
rs553221833
|
|
NM_000426.4(LAMA2):c.4993G>T (p.Gly1665Ter)
|
rs373997222
|
|
NM_000426.4(LAMA2):c.4996C>T (p.Gln1666Ter)
|
rs2114654019
|
|
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.5062del (p.Asp1688fs)
|
|
|
NM_000426.4(LAMA2):c.507_508insCAAGAGA (p.Ala170fs)
|
|
|
NM_000426.4(LAMA2):c.5085dup (p.Ala1696fs)
|
rs1351661862
|
|
NM_000426.4(LAMA2):c.5092A>T (p.Lys1698Ter)
|
rs1779318396
|
|
NM_000426.4(LAMA2):c.512_513del (p.Val171fs)
|
|
|
NM_000426.4(LAMA2):c.5155A>T (p.Lys1719Ter)
|
rs1779323338
|
|
NM_000426.4(LAMA2):c.5156_5159del (p.Lys1719fs)
|
rs1554286963
|
|
NM_000426.4(LAMA2):c.5169GAT[1] (p.Met1724del)
|
rs1554286976
|
|
NM_000426.4(LAMA2):c.5181A>C (p.Glu1727Asp)
|
rs1779325827
|
|
NM_000426.4(LAMA2):c.5184del (p.Arg1729fs)
|
|
|
NM_000426.4(LAMA2):c.5235-18G>A
|
rs188365084
|
|
NM_000426.4(LAMA2):c.5235-1G>A
|
rs1779406142
|
|
NM_000426.4(LAMA2):c.5259del (p.Lys1753_Val1754insTer)
|
rs1211739649
|
|
NM_000426.4(LAMA2):c.5266A>T (p.Lys1756Ter)
|
rs2114674584
|
|
NM_000426.4(LAMA2):c.5274del (p.Phe1758fs)
|
|
|
NM_000426.4(LAMA2):c.5284dup (p.Arg1762fs)
|
|
|
NM_000426.4(LAMA2):c.5290dup (p.Glu1764fs)
|
rs1415944134
|
|
NM_000426.4(LAMA2):c.5325dup (p.Leu1776fs)
|
rs768458445
|
|
NM_000426.4(LAMA2):c.5342del (p.Asn1781fs)
|
|
|
NM_000426.4(LAMA2):c.5374G>T (p.Glu1792Ter)
|
rs746201268
|
|
NM_000426.4(LAMA2):c.5443G>C (p.Glu1815Gln)
|
rs1554287445
|
|
NM_000426.4(LAMA2):c.5445+1G>A
|
rs1779423047
|
|
NM_000426.4(LAMA2):c.5449AAG[1] (p.Lys1818del)
|
rs1225610123
|
|
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser)
|
rs56173620
|
|
NM_000426.4(LAMA2):c.5563-1G>A
|
|
|
NM_000426.4(LAMA2):c.5563-2A>G
|
rs786204779
|
|
NM_000426.4(LAMA2):c.5568_5569delinsA (p.Glu1857fs)
|
|
|
NM_000426.4(LAMA2):c.5578C>T (p.Gln1860Ter)
|
rs1165626901
|
|
NM_000426.4(LAMA2):c.5598G>T (p.Met1866Ile)
|
rs1554289926
|
|
NM_000426.4(LAMA2):c.5665_5667del (p.Lys1889del)
|
rs767066183
|
|
NM_000426.4(LAMA2):c.5673_5674del (p.Gln1892fs)
|
|
|
NM_000426.4(LAMA2):c.5674C>T (p.Gln1892Ter)
|
rs1462522184
|
|
NM_000426.4(LAMA2):c.569C>A (p.Ser190Ter)
|
rs1775311864
|
|
NM_000426.4(LAMA2):c.5836A>T (p.Lys1946Ter)
|
|
|
NM_000426.4(LAMA2):c.5851G>T (p.Glu1951Ter)
|
|
|
NM_000426.4(LAMA2):c.5865+2T>G
|
rs1554290316
|
|
NM_000426.4(LAMA2):c.5866-1G>A
|
rs1064797040
|
|
NM_000426.4(LAMA2):c.5866-2A>G
|
rs1554295204
|
|
NM_000426.4(LAMA2):c.5913_5914del (p.Gln1972fs)
|
|
|
NM_000426.4(LAMA2):c.5944A>T (p.Lys1982Ter)
|
rs1781398399
|
|
NM_000426.4(LAMA2):c.5954_5962dup (p.Ala1985_Asp1987dup)
|
rs1554295259
|
|
NM_000426.4(LAMA2):c.595T>A (p.Cys199Ser)
|
rs886043693
|
|
NM_000426.4(LAMA2):c.602C>A (p.Ser201Ter)
|
rs1775313883
|
|
NM_000426.4(LAMA2):c.6030_6031del (p.Asp2011fs)
|
|
|
NM_000426.4(LAMA2):c.6103C>T (p.Gln2035Ter)
|
|
|
NM_000426.4(LAMA2):c.611C>A (p.Ser204Tyr)
|
rs1204310516
|
|
NM_000426.4(LAMA2):c.6146_6147del (p.Lys2049fs)
|
|
|
NM_000426.4(LAMA2):c.6147del (p.Asp2050fs)
|
|
|
NM_000426.4(LAMA2):c.6195GAA[2] (p.Lys2067del)
|
rs758495000
|
|
NM_000426.4(LAMA2):c.6196A>T (p.Lys2066Ter)
|
rs1583756552
|
|
NM_000426.4(LAMA2):c.61C>T (p.Gln21Ter)
|
rs886061039
|
|
NM_000426.4(LAMA2):c.6232A>T (p.Lys2078Ter)
|
|
|
NM_000426.4(LAMA2):c.6248_6249del (p.Val2083fs)
|
|
|
NM_000426.4(LAMA2):c.6260C>A (p.Ser2087Tyr)
|
rs1299914386
|
|
NM_000426.4(LAMA2):c.6262A>T (p.Lys2088Ter)
|
rs1782086229
|
|
NM_000426.4(LAMA2):c.6269-831C>T
|
rs371162111
|
|
NM_000426.4(LAMA2):c.6269-845C>T
|
rs1554297888
|
|
NM_000426.4(LAMA2):c.6269-848T>A
|
rs1554297884
|
|
NM_000426.4(LAMA2):c.6269-848T>C
|
rs1554297884
|
|
NM_000426.4(LAMA2):c.6269-849C>T
|
rs1554297881
|
|
NM_000426.4(LAMA2):c.6269-852A>C
|
rs766496312
|
|
NM_000426.4(LAMA2):c.6269-855A>C
|
rs1554297879
|
|
NM_000426.4(LAMA2):c.6269-855A>G
|
rs1554297879
|
|
NM_000426.4(LAMA2):c.6305T>G (p.Leu2102Ter)
|
rs1782333085
|
|
NM_000426.4(LAMA2):c.637G>T (p.Glu213Ter)
|
rs1775315900
|
|
NM_000426.4(LAMA2):c.640-6127A>G
|
|
|
NM_000426.4(LAMA2):c.6429+1G>C
|
rs1262029350
|
|
NM_000426.4(LAMA2):c.6449C>A (p.Ser2150Ter)
|
rs1782761474
|
|
NM_000426.4(LAMA2):c.6466C>T (p.Arg2156Ter)
|
rs922640025
|
|
NM_000426.4(LAMA2):c.6488del (p.Lys2163fs)
|
rs886039482
|
|
NM_000426.4(LAMA2):c.6510TGT[1] (p.Val2172del)
|
rs1363017615
|
|
NM_000426.4(LAMA2):c.6551T>C (p.Phe2184Ser)
|
rs398123381
|
|
NM_000426.4(LAMA2):c.6560del (p.Gly2187fs)
|
|
|
NM_000426.4(LAMA2):c.6573+1G>A
|
rs757435241
|
|
NM_000426.4(LAMA2):c.6573+1G>T
|
rs757435241
|
|
NM_000426.4(LAMA2):c.6623G>A (p.Trp2208Ter)
|
|
|
NM_000426.4(LAMA2):c.6636_6637del (p.Gly2213fs)
|
|
|
NM_000426.4(LAMA2):c.6643G>T (p.Gly2215Ter)
|
|
|
NM_000426.4(LAMA2):c.6687G>A (p.Trp2229Ter)
|
|
|
NM_000426.4(LAMA2):c.6690C>A (p.Tyr2230Ter)
|
rs1583790201
|
|
NM_000426.4(LAMA2):c.6714_6722del (p.Arg2239_Gly2241del)
|
rs2114794775
|
|
NM_000426.4(LAMA2):c.6752C>A (p.Pro2251His)
|
rs546395293
|
|
NM_000426.4(LAMA2):c.6919_6920del (p.Tyr2307fs)
|
rs757404275
|
|
NM_000426.4(LAMA2):c.691G>T (p.Glu231Ter)
|
rs1778273068
|
|
NM_000426.4(LAMA2):c.6948G>A (p.Trp2316Ter)
|
|
|
NM_000426.4(LAMA2):c.6992+5G>A
|
rs1221715098
|
|
NM_000426.4(LAMA2):c.7003del (p.Glu2335fs)
|
|
|
NM_000426.4(LAMA2):c.7126_7127insA (p.Leu2376fs)
|
|
|
NM_000426.4(LAMA2):c.7142delinsGT (p.Ala2381fs)
|
|
|
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter)
|
rs121913576
|
|
NM_000426.4(LAMA2):c.7215_7217delinsA (p.Ser2406fs)
|
|
|
NM_000426.4(LAMA2):c.7266G>A (p.Trp2422Ter)
|
rs1783482812
|
|
NM_000426.4(LAMA2):c.7279_7280del (p.Leu2427fs)
|
rs398123385
|
|
NM_000426.4(LAMA2):c.7280_7283del (p.Leu2427fs)
|
|
|
NM_000426.4(LAMA2):c.7286_7288del (p.Arg2429del)
|
rs1350705904
|
|
NM_000426.4(LAMA2):c.728T>C (p.Leu243Pro)
|
rs1562273395
|
|
NM_000426.4(LAMA2):c.7296del (p.Lys2432fs)
|
|
|
NM_000426.4(LAMA2):c.7301-1G>A
|
|
|
NM_000426.4(LAMA2):c.731_732del (p.Arg244fs)
|
|
|
NM_000426.4(LAMA2):c.7339G>T (p.Glu2447Ter)
|
rs1377818460
|
|
NM_000426.4(LAMA2):c.7374del (p.Phe2458fs)
|
|
|
NM_000426.4(LAMA2):c.7390_7391delinsTT (p.Ala2464Leu)
|
rs1554303509
|
|
NM_000426.4(LAMA2):c.7444A>T (p.Lys2482Ter)
|
rs1554303937
|
|
NM_000426.4(LAMA2):c.7452-16T>G
|
|
|
NM_000426.4(LAMA2):c.7452-1G>A
|
rs1554304931
|
|
NM_000426.4(LAMA2):c.7473A>G (p.Lys2491=)
|
rs886038295
|
|
NM_000426.4(LAMA2):c.7489A>T (p.Lys2497Ter)
|
|
|
NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs)
|
rs1480934961
|
|
NM_000426.4(LAMA2):c.7578_7579del (p.Tyr2527fs)
|
|
|
NM_000426.4(LAMA2):c.7583_7584del (p.Thr2528fs)
|
|
|
NM_000426.4(LAMA2):c.7621_7622insTA (p.Pro2541fs)
|
|
|
NM_000426.4(LAMA2):c.7630del (p.Ile2544fs)
|
rs1784335277
|
|
NM_000426.4(LAMA2):c.7658C>A (p.Ser2553Ter)
|
|
|
NM_000426.4(LAMA2):c.7675G>T (p.Glu2559Ter)
|
|
|
NM_000426.4(LAMA2):c.7692_7693insA (p.Leu2565fs)
|
|
|
NM_000426.4(LAMA2):c.7700G>C (p.Ser2567Thr)
|
rs1554305929
|
|
NM_000426.4(LAMA2):c.7749+1G>C
|
|
|
NM_000426.4(LAMA2):c.7750-1713_7899-2153del
|
|
|
NM_000426.4(LAMA2):c.7750-2A>G
|
rs778539477
|
|
NM_000426.4(LAMA2):c.7771_7772delinsT (p.Asn2591fs)
|
|
|
NM_000426.4(LAMA2):c.7778del (p.Gly2593fs)
|
rs2114848887
|
|
NM_000426.4(LAMA2):c.77AGC[4] (p.Gln28dup)
|
rs1554312698
|
|
NM_000426.4(LAMA2):c.77AGC[5] (p.Gln27_Gln28dup)
|
rs1554312698
|
|
NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter)
|
rs766920075
|
|
NM_000426.4(LAMA2):c.781A>T (p.Lys261Ter)
|
rs781316719
|
|
NM_000426.4(LAMA2):c.7834A>T (p.Arg2612Ter)
|
|
|
NM_000426.4(LAMA2):c.7870_7871dup (p.Ser2625fs)
|
rs2114849148
|
|
NM_000426.4(LAMA2):c.7881T>G (p.His2627Gln)
|
rs202247792
|
|
NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter)
|
rs727502851
|
|
NM_000426.4(LAMA2):c.7898+1G>A
|
rs1784599832
|
|
NM_000426.4(LAMA2):c.7899-1G>C
|
|
|
NM_000426.4(LAMA2):c.790A>T (p.Arg264Ter)
|
rs1778283565
|
|
NM_000426.4(LAMA2):c.7912C>T (p.Gln2638Ter)
|
rs1784882494
|
|
NM_000426.4(LAMA2):c.7933_7941del (p.Tyr2645_Gln2647del)
|
rs762065775
|
|
NM_000426.4(LAMA2):c.7976del (p.Lys2659fs)
|
|
|
NM_000426.4(LAMA2):c.7991del (p.Gly2664fs)
|
rs886039541
|
|
NM_000426.4(LAMA2):c.8008C>T (p.Gln2670Ter)
|
rs1784888496
|
|
NM_000426.4(LAMA2):c.8075+1G>A
|
rs1055407857
|
|
NM_000426.4(LAMA2):c.8075+2dup
|
rs2114859967
|
|
NM_000426.4(LAMA2):c.8076-1G>A
|
rs1554310169
|
|
NM_000426.4(LAMA2):c.8079dup (p.Met2694fs)
|
|
|
NM_000426.4(LAMA2):c.8096del (p.Pro2699fs)
|
rs1784912657
|
|
NM_000426.4(LAMA2):c.8155G>T (p.Glu2719Ter)
|
rs1289855948
|
|
NM_000426.4(LAMA2):c.8169_8173del (p.Ala2723_Pro2724insTer)
|
rs1554310242
|
|
NM_000426.4(LAMA2):c.817A>T (p.Arg273Ter)
|
rs886043648
|
|
NM_000426.4(LAMA2):c.8188C>T (p.Gln2730Ter)
|
rs1784919273
|
|
NM_000426.4(LAMA2):c.819+1G>A
|
rs1554226186
|
|
NM_000426.4(LAMA2):c.819+2dup
|
rs765817742
|
|
NM_000426.4(LAMA2):c.820-1G>A
|
rs1370654793
|
|
NM_000426.4(LAMA2):c.8206_8209del (p.Thr2736fs)
|
|
|
NM_000426.4(LAMA2):c.8244+2dup
|
rs1554310330
|
|
NM_000426.4(LAMA2):c.8244+3_8244+6del
|
rs746678525
|
|
NM_000426.4(LAMA2):c.8245-2A>G
|
rs914395925
|
|
NM_000426.4(LAMA2):c.8256del (p.Ala2753fs)
|
|
|
NM_000426.4(LAMA2):c.825del (p.Tyr276fs)
|
rs1562275792
|
|
NM_000426.4(LAMA2):c.8265del (p.Glu2756fs)
|
|
|
NM_000426.4(LAMA2):c.828C>G (p.Tyr276Ter)
|
rs1028599119
|
|
NM_000426.4(LAMA2):c.8377_8383del (p.Val2793fs)
|
|
|
NM_000426.4(LAMA2):c.8380_8383del (p.Arg2794fs)
|
rs2114890786
|
|
NM_000426.4(LAMA2):c.8430_8431insAG (p.Ala2811fs)
|
|
|
NM_000426.4(LAMA2):c.8484C>G (p.Asp2828Glu)
|
rs1785788819
|
|
NM_000426.4(LAMA2):c.8540G>A (p.Trp2847Ter)
|
|
|
NM_000426.4(LAMA2):c.8542del (p.His2848fs)
|
|
|
NM_000426.4(LAMA2):c.8548-2A>G
|
rs369224209
|
|
NM_000426.4(LAMA2):c.8556_8558del (p.Ile2852del)
|
rs398123389
|
|
NM_000426.4(LAMA2):c.8591A>T (p.Asp2864Val)
|
rs778258870
|
|
NM_000426.4(LAMA2):c.8597_8598insAA (p.Ser2867fs)
|
|
|
NM_000426.4(LAMA2):c.8603dup (p.Asn2868fs)
|
|
|
NM_000426.4(LAMA2):c.8613dup (p.Ser2872fs)
|
rs2114900655
|
|
NM_000426.4(LAMA2):c.861C>A (p.Cys287Ter)
|
|
|
NM_000426.4(LAMA2):c.8625dup (p.Ala2876fs)
|
|
|
NM_000426.4(LAMA2):c.8654T>C (p.Leu2885Pro)
|
rs1554316199
|
|
NM_000426.4(LAMA2):c.8665G>A (p.Gly2889Arg)
|
rs886039896
|
|
NM_000426.4(LAMA2):c.8710_8712dup (p.Tyr2904dup)
|
rs1554317110
|
|
NM_000426.4(LAMA2):c.8712T>A (p.Tyr2904Ter)
|
|
|
NM_000426.4(LAMA2):c.8714_8715insGTGACG (p.Ser2905delinsArgTer)
|
rs2114910650
|
|
NM_000426.4(LAMA2):c.8716_8717insCCA (p.Ser2905_Ile2906insThr)
|
rs1554317120
|
|
NM_000426.4(LAMA2):c.872G>C (p.Gly291Ala)
|
rs1554226736
|
|
NM_000426.4(LAMA2):c.872del (p.Gly291fs)
|
rs1222620175
|
|
NM_000426.4(LAMA2):c.8768AAC[1] (p.Gln2924del)
|
rs1554317173
|
|
NM_000426.4(LAMA2):c.8770C>T (p.Gln2924Ter)
|
rs1034133545
|
|
NM_000426.4(LAMA2):c.8781del (p.Ser2928fs)
|
|
|
NM_000426.4(LAMA2):c.8787_8793del (p.Phe2929fs)
|
|
|
NM_000426.4(LAMA2):c.8849_8857+1del
|
|
|
NM_000426.4(LAMA2):c.8858-1G>A
|
rs1554319117
|
|
NM_000426.4(LAMA2):c.8876G>C (p.Gly2959Ala)
|
rs1393350402
|
|
NM_000426.4(LAMA2):c.8953dup (p.Met2985fs)
|
|
|
NM_000426.4(LAMA2):c.8958_8961del (p.Asp2986fs)
|
|
|
NM_000426.4(LAMA2):c.8979_8982dup (p.Glu2995Ter)
|
|
|
NM_000426.4(LAMA2):c.8989-15T>G
|
rs372370665
|
|
NM_000426.4(LAMA2):c.8992_8994dup (p.Met2998dup)
|
rs1437850233
|
|
NM_000426.4(LAMA2):c.908dup (p.Asn303fs)
|
rs2114964219
|
|
NM_000426.4(LAMA2):c.9095dup (p.Ile3033fs)
|
rs1554320205
|
|
NM_000426.4(LAMA2):c.9128G>A (p.Gly3043Glu)
|
rs762958440
|
|
NM_000426.4(LAMA2):c.917G>A (p.Arg306His)
|
rs1023922833
|
|
NM_000426.4(LAMA2):c.9211+1G>A
|
rs1554320318
|
|
NM_000426.4(LAMA2):c.9212-2A>G
|
rs1554321125
|
|
NM_000426.4(LAMA2):c.9221del (p.Lys3074fs)
|
|
|
NM_000426.4(LAMA2):c.9223C>T (p.Gln3075Ter)
|
rs771012835
|
|
NM_000426.4(LAMA2):c.9227_9243dup (p.Ile3082delinsLeuAlaTer)
|
|
|
NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter)
|
rs121913571
|
|
NM_000426.4(LAMA2):c.9266_9283dup (p.Arg3089_Thr3094dup)
|
rs1554321180
|
|
NM_000426.4(LAMA2):c.938_939del (p.Thr313fs)
|
rs2114967814
|
|
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs)
|
rs1554227092
|
|
NM_000426.4(LAMA2):c.966T>A (p.Cys322Ter)
|
|
|
NM_000426.4(LAMA2):c.987del (p.Trp330fs)
|
|
|
NM_000426.4:c.(6992+1_6993-1)_(7300+1_7301-1)del
|
|
|