ClinVar Miner

List of variants studied for Junctional epidermolysis bullosa gravis of Herlitz

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ClinVar version:
Total variants: 558
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HGVS dbSNP gnomAD frequency
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

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