NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)
|
rs80356682
|
0.00049
|
NM_000228.3(LAMB3):c.958_1034dup (p.Asn345fs)
|
rs1553277702
|
0.00028
|
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_000228.3(LAMB3):c.1705C>T (p.Arg569Ter)
|
rs201551805
|
0.00005
|
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter)
|
rs80356681
|
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_000228.3(LAMB3):c.2914C>T (p.Arg972Ter)
|
rs747916314
|
0.00003
|
NM_000228.3(LAMB3):c.565-2A>G
|
rs370148688
|
0.00003
|
NM_000228.3(LAMB3):c.1063T>C (p.Cys355Arg)
|
rs532875477
|
0.00002
|
NM_000228.3(LAMB3):c.1132+5G>A
|
rs770302956
|
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_000228.3(LAMB3):c.1500C>A (p.Cys500Ter)
|
rs893599116
|
0.00001
|
NM_000228.3(LAMB3):c.1594C>T (p.Arg532Ter)
|
rs757145297
|
0.00001
|
NM_000228.3(LAMB3):c.2188C>T (p.Gln730Ter)
|
rs1350303547
|
0.00001
|
NM_000228.3(LAMB3):c.282G>A (p.Trp94Ter)
|
rs748099677
|
0.00001
|
NM_000228.3(LAMB3):c.285G>A (p.Trp95Ter)
|
rs1558163550
|
0.00001
|
NM_000228.3(LAMB3):c.430C>T (p.Arg144Ter)
|
rs759518184
|
0.00001
|
NM_000228.3(LAMB3):c.565-1G>A
|
rs1057516693
|
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.628G>A (p.Glu210Lys)
|
rs121912482
|
0.00001
|
NC_000001.10:g.(?_209788514)_(209825713_?)del
|
|
|
NC_000001.10:g.(?_209798983)_(209812003_?)del
|
|
|
NM_000228.2(LAMB3):c.957_958ins77 (p.?)
|
|
|
NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter)
|
rs774174881
|
|
NM_000228.3(LAMB3):c.1029_1030del (p.Cys343_Asp344delinsTer)
|
|
|
NM_000228.3(LAMB3):c.1029_1030dup (p.Asp344fs)
|
rs1057517290
|
|
NM_000228.3(LAMB3):c.1075C>T (p.Gln359Ter)
|
rs1666607402
|
|
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter)
|
rs1057517096
|
|
NM_000228.3(LAMB3):c.1133-22G>A
|
rs767847211
|
|
NM_000228.3(LAMB3):c.1156del (p.Ala386fs)
|
|
|
NM_000228.3(LAMB3):c.1172_1179delinsTGTGTGTGCAAGGAG (p.Pro391fs)
|
|
|
NM_000228.3(LAMB3):c.1191del (p.Gln398fs)
|
rs1666542456
|
|
NM_000228.3(LAMB3):c.1266C>A (p.Tyr422Ter)
|
rs766227083
|
|
NM_000228.3(LAMB3):c.1288+1G>A
|
rs1186161867
|
|
NM_000228.3(LAMB3):c.1288+1G>T
|
rs1186161867
|
|
NM_000228.3(LAMB3):c.1288+2T>A
|
|
|
NM_000228.3(LAMB3):c.1289-2_1296del
|
rs2102424525
|
|
NM_000228.3(LAMB3):c.1289_1301del (p.Arg430fs)
|
|
|
NM_000228.3(LAMB3):c.1293_1294del (p.Cys431_Asp432delinsTer)
|
|
|
NM_000228.3(LAMB3):c.1319_1322del (p.Arg440fs)
|
|
|
NM_000228.3(LAMB3):c.1336G>T (p.Glu446Ter)
|
rs749069550
|
|
NM_000228.3(LAMB3):c.1344_1345del (p.Ser448fs)
|
rs1553277267
|
|
NM_000228.3(LAMB3):c.1357del (p.Cys453fs)
|
|
|
NM_000228.3(LAMB3):c.1410G>A (p.Trp470Ter)
|
|
|
NM_000228.3(LAMB3):c.1426C>T (p.Gln476Ter)
|
rs1666507638
|
|
NM_000228.3(LAMB3):c.1427dup (p.Cys478fs)
|
rs2102424137
|
|
NM_000228.3(LAMB3):c.1439_1443del (p.Pro480fs)
|
rs786205095
|
|
NM_000228.3(LAMB3):c.1449C>A (p.Cys483Ter)
|
|
|
NM_000228.3(LAMB3):c.1552C>T (p.Gln518Ter)
|
|
|
NM_000228.3(LAMB3):c.155del (p.Pro52fs)
|
|
|
NM_000228.3(LAMB3):c.1587_1588del (p.Gly530fs)
|
rs769151482
|
|
NM_000228.3(LAMB3):c.1593C>A (p.Cys531Ter)
|
|
|
NM_000228.3(LAMB3):c.1619del (p.Gly540fs)
|
|
|
NM_000228.3(LAMB3):c.1628dup (p.Cys546fs)
|
|
|
NM_000228.3(LAMB3):c.1634del (p.Gly545fs)
|
rs1666434871
|
|
NM_000228.3(LAMB3):c.1657del (p.Cys553fs)
|
rs2102420949
|
|
NM_000228.3(LAMB3):c.1676del (p.Gly558_Leu559insTer)
|
rs1666431089
|
|
NM_000228.3(LAMB3):c.1702C>T (p.Gln568Ter)
|
rs1571810782
|
|
NM_000228.3(LAMB3):c.1792_1793insT (p.Arg598fs)
|
|
|
NM_000228.3(LAMB3):c.1814_1827del (p.Ala605fs)
|
rs1666418404
|
|
NM_000228.3(LAMB3):c.1829G>A (p.Trp610Ter)
|
|
|
NM_000228.3(LAMB3):c.1830G>A (p.Trp610Ter)
|
rs121912484
|
|
NM_000228.3(LAMB3):c.1846G>T (p.Glu616Ter)
|
|
|
NM_000228.3(LAMB3):c.1897C>T (p.Gln633Ter)
|
rs2102420131
|
|
NM_000228.3(LAMB3):c.1900_1909del (p.Ile634fs)
|
rs2102420104
|
|
NM_000228.3(LAMB3):c.1939G>T (p.Glu647Ter)
|
rs1666408900
|
|
NM_000228.3(LAMB3):c.1948C>T (p.Gln650Ter)
|
|
|
NM_000228.3(LAMB3):c.2014del (p.Glu672fs)
|
rs2102416503
|
|
NM_000228.3(LAMB3):c.2047del (p.Glu683fs)
|
rs1666320034
|
|
NM_000228.3(LAMB3):c.207_208dup (p.Asp70fs)
|
|
|
NM_000228.3(LAMB3):c.2116del (p.Lys705_Ile706insTer)
|
|
|
NM_000228.3(LAMB3):c.2166C>G (p.Tyr722Ter)
|
rs552611500
|
|
NM_000228.3(LAMB3):c.217C>T (p.Gln73Ter)
|
rs762234799
|
|
NM_000228.3(LAMB3):c.221_225del (p.Pro74fs)
|
rs2102446289
|
|
NM_000228.3(LAMB3):c.2242G>T (p.Glu748Ter)
|
|
|
NM_000228.3(LAMB3):c.225_226del (p.His75fs)
|
rs886045870
|
|
NM_000228.3(LAMB3):c.2269G>T (p.Gly757Ter)
|
|
|
NM_000228.3(LAMB3):c.2275G>T (p.Gly759Ter)
|
rs780424034
|
|
NM_000228.3(LAMB3):c.2288del (p.Gly763fs)
|
rs886041893
|
|
NM_000228.3(LAMB3):c.2296_2308del (p.Pro765_Lys766insTer)
|
|
|
NM_000228.3(LAMB3):c.2300_2301dup (p.Val768fs)
|
rs1666291169
|
|
NM_000228.3(LAMB3):c.2346del (p.Thr783fs)
|
rs1057516486
|
|
NM_000228.3(LAMB3):c.2362_2372del (p.Cys788fs)
|
rs1375506940
|
|
NM_000228.3(LAMB3):c.241C>T (p.Arg81Ter)
|
rs1064793896
|
|
NM_000228.3(LAMB3):c.2422C>T (p.Gln808Ter)
|
rs1666268592
|
|
NM_000228.3(LAMB3):c.2454C>A (p.Cys818Ter)
|
|
|
NM_000228.3(LAMB3):c.2478dup (p.Gly827fs)
|
|
|
NM_000228.3(LAMB3):c.2495del (p.Ala832fs)
|
|
|
NM_000228.3(LAMB3):c.2516del (p.Leu839fs)
|
rs1553276216
|
|
NM_000228.3(LAMB3):c.2533C>T (p.Gln845Ter)
|
rs1571804681
|
|
NM_000228.3(LAMB3):c.2551C>T (p.Gln851Ter)
|
rs1571804630
|
|
NM_000228.3(LAMB3):c.2606_2658dup (p.Arg887delinsAlaTrpArgProArgTer)
|
|
|
NM_000228.3(LAMB3):c.2613_2614del (p.Glu871fs)
|
rs2102413026
|
|
NM_000228.3(LAMB3):c.2712dup (p.Asp905Ter)
|
|
|
NM_000228.3(LAMB3):c.2768_2769del (p.Thr923fs)
|
rs1558148080
|
|
NM_000228.3(LAMB3):c.2788C>T (p.Gln930Ter)
|
rs2102406831
|
|
NM_000228.3(LAMB3):c.2806C>T (p.Gln936Ter)
|
rs121912485
|
|
NM_000228.3(LAMB3):c.2823del (p.Arg941fs)
|
|
|
NM_000228.3(LAMB3):c.2842del (p.Val948fs)
|
rs772421306
|
|
NM_000228.3(LAMB3):c.2872del (p.Arg958fs)
|
rs2102406610
|
|
NM_000228.3(LAMB3):c.2910-1G>A
|
rs2102405986
|
|
NM_000228.3(LAMB3):c.2975del (p.Val992fs)
|
|
|
NM_000228.3(LAMB3):c.3024del (p.Arg1009fs)
|
rs777292177
|
|
NM_000228.3(LAMB3):c.3034C>T (p.Gln1012Ter)
|
rs1057516756
|
|
NM_000228.3(LAMB3):c.3079A>T (p.Lys1027Ter)
|
rs2102405073
|
|
NM_000228.3(LAMB3):c.308del (p.Pro103fs)
|
rs1553279073
|
|
NM_000228.3(LAMB3):c.3119G>A (p.Trp1040Ter)
|
rs1057516759
|
|
NM_000228.3(LAMB3):c.3148del (p.Ala1050fs)
|
|
|
NM_000228.3(LAMB3):c.3163del (p.Ala1055fs)
|
|
|
NM_000228.3(LAMB3):c.3190_3191delinsTA (p.Ala1064Ter)
|
|
|
NM_000228.3(LAMB3):c.31dup (p.Leu11fs)
|
rs777672897
|
|
NM_000228.3(LAMB3):c.3228+1G>A
|
rs778026407
|
|
NM_000228.3(LAMB3):c.3228+2T>A
|
|
|
NM_000228.3(LAMB3):c.3239_3240del (p.Arg1080fs)
|
rs985107396
|
|
NM_000228.3(LAMB3):c.323T>C (p.Leu108Pro)
|
rs1464871076
|
|
NM_000228.3(LAMB3):c.3247C>T (p.Gln1083Ter)
|
rs2102403618
|
|
NM_000228.3(LAMB3):c.328del (p.Leu110fs)
|
|
|
NM_000228.3(LAMB3):c.3340G>T (p.Glu1114Ter)
|
rs1553275195
|
|
NM_000228.3(LAMB3):c.3383-1G>A
|
rs1553275070
|
|
NM_000228.3(LAMB3):c.3394dup (p.Glu1132fs)
|
rs786201004
|
|
NM_000228.3(LAMB3):c.3431C>A (p.Ser1144Ter)
|
rs869320671
|
|
NM_000228.3(LAMB3):c.3446_3453del (p.Gly1149fs)
|
rs1553275034
|
|
NM_000228.3(LAMB3):c.3463_3475del (p.Glu1155fs)
|
|
|
NM_000228.3(LAMB3):c.349C>T (p.Gln117Ter)
|
rs2102444886
|
|
NM_000228.3(LAMB3):c.364G>T (p.Glu122Ter)
|
|
|
NM_000228.3(LAMB3):c.370C>T (p.Gln124Ter)
|
|
|
NM_000228.3(LAMB3):c.378_387del (p.Met127fs)
|
|
|
NM_000228.3(LAMB3):c.422dup (p.Thr142fs)
|
rs1455026782
|
|
NM_000228.3(LAMB3):c.428G>A (p.Trp143Ter)
|
rs2102438650
|
|
NM_000228.3(LAMB3):c.429G>A (p.Trp143Ter)
|
rs369555024
|
|
NM_000228.3(LAMB3):c.435_436del (p.Tyr146fs)
|
rs1666824858
|
|
NM_000228.3(LAMB3):c.436dup (p.Tyr146fs)
|
rs1666824711
|
|
NM_000228.3(LAMB3):c.484C>T (p.Gln162Ter)
|
rs2102438416
|
|
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.504G>A (p.Trp168Ter)
|
rs1163346468
|
|
NM_000228.3(LAMB3):c.52C>T (p.Gln18Ter)
|
rs777231178
|
|
NM_000228.3(LAMB3):c.55C>T (p.Gln19Ter)
|
rs200672750
|
|
NM_000228.3(LAMB3):c.565-1G>C
|
|
|
NM_000228.3(LAMB3):c.565-3T>C
|
rs587776813
|
|
NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala)
|
rs121912486
|
|
NM_000228.3(LAMB3):c.613dup (p.Ser205fs)
|
|
|
NM_000228.3(LAMB3):c.616C>T (p.Gln206Ter)
|
rs775405524
|
|
NM_000228.3(LAMB3):c.619A>C (p.Lys207Gln)
|
rs121912487
|
|
NM_000228.3(LAMB3):c.622del (p.Ile208fs)
|
rs768303931
|
|
NM_000228.3(LAMB3):c.629-12T>A
|
|
|
NM_000228.3(LAMB3):c.629-1G>A
|
rs587776814
|
|
NM_000228.3(LAMB3):c.667del (p.Arg223fs)
|
rs2102434789
|
|
NM_000228.3(LAMB3):c.696C>A (p.Tyr232Ter)
|
|
|
NM_000228.3(LAMB3):c.69_70del (p.Ala25fs)
|
rs1057516884
|
|
NM_000228.3(LAMB3):c.76dup (p.Cys26fs)
|
rs1553281335
|
|
NM_000228.3(LAMB3):c.806_807del (p.Pro269fs)
|
|
|
NM_000228.3(LAMB3):c.810del (p.Thr271fs)
|
|
|
NM_000228.3(LAMB3):c.823-1G>A
|
rs778372285
|
|
NM_000228.3(LAMB3):c.823-1G>T
|
rs778372285
|
|
NM_000228.3(LAMB3):c.823-2A>C
|
|
|
NM_000228.3(LAMB3):c.823-2A>T
|
rs2102430895
|
|
NM_000228.3(LAMB3):c.863del (p.Pro288fs)
|
|
|
NM_000228.3(LAMB3):c.877T>A (p.Cys293Ser)
|
|
|
NM_000228.3(LAMB3):c.903dup (p.Trp302fs)
|
|
|
NM_000228.3(LAMB3):c.904del (p.Trp302fs)
|
rs786205094
|
|
NM_000228.3(LAMB3):c.906G>A (p.Trp302Ter)
|
|
|
NM_000228.3(LAMB3):c.939C>A (p.Cys313Ter)
|
|
|
NM_000228.3(LAMB3):c.948C>A (p.Cys316Ter)
|
rs779681550
|
|
NM_000228.3(LAMB3):c.967G>T (p.Glu323Ter)
|
|
|
NM_000228.3(LAMB3):c.975T>A (p.Cys325Ter)
|
rs1666615300
|
|