ClinVar Miner

List of variants in gene LAMB2 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 862
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HGVS dbSNP gnomAD frequency
NM_002292.4(LAMB2):c.1890+25G>A rs9865051 0.81883
NM_002292.4(LAMB2):c.2959G>A (p.Glu987Lys) rs34759087 0.09080
NM_002292.4(LAMB2):c.3387A>G (p.Gln1129=) rs34290943 0.09068
NM_002292.4(LAMB2):c.2740G>A (p.Gly914Arg) rs35713889 0.03588
NM_002292.4(LAMB2):c.306C>T (p.Asn102=) rs79448908 0.02014
NM_002292.4(LAMB2):c.5293G>A (p.Ala1765Thr) rs74951356 0.01940
NM_002292.4(LAMB2):c.1764C>T (p.Pro588=) rs33942096 0.01677
NM_002292.4(LAMB2):c.4923+17A>G rs116836607 0.01580
NM_002292.4(LAMB2):c.1724G>A (p.Arg575Gln) rs61729152 0.01347
NM_002292.4(LAMB2):c.4774C>T (p.Arg1592Trp) rs61729458 0.01273
NM_002292.4(LAMB2):c.1193C>T (p.Thr398Ile) rs77500937 0.00775
NM_002292.4(LAMB2):c.2673C>T (p.Gly891=) rs144092322 0.00741
NM_002292.4(LAMB2):c.3443G>A (p.Arg1148His) rs138774635 0.00663
NM_002292.4(LAMB2):c.4222C>T (p.Leu1408=) rs143974640 0.00662
NM_002292.4(LAMB2):c.3110-15T>C rs147446447 0.00622
NM_002292.4(LAMB2):c.4034G>A (p.Arg1345His) rs75073433 0.00463
NM_002292.4(LAMB2):c.3858G>T (p.Val1286=) rs34967349 0.00312
NM_002292.4(LAMB2):c.109C>G (p.Pro37Ala) rs144765752 0.00242
NM_002292.4(LAMB2):c.2307C>T (p.Leu769=) rs147076626 0.00235
NM_002292.4(LAMB2):c.3875A>T (p.Asn1292Ile) rs148246465 0.00175
NM_002292.4(LAMB2):c.5166A>G (p.Gln1722=) rs114485284 0.00173
NM_002292.4(LAMB2):c.510C>T (p.Arg170=) rs149856537 0.00167
NM_002292.4(LAMB2):c.4163G>A (p.Arg1388Gln) rs146522641 0.00159
NM_002292.4(LAMB2):c.3645G>A (p.Ala1215=) rs13082063 0.00137
NM_002292.4(LAMB2):c.1306G>A (p.Gly436Ser) rs142402808 0.00096
NM_002292.4(LAMB2):c.-112A>T rs546461860 0.00088
NM_002292.4(LAMB2):c.2975T>C (p.Ile992Thr) rs148732023 0.00086
NM_002292.4(LAMB2):c.4118A>G (p.Asp1373Gly) rs112933248 0.00076
NM_002292.4(LAMB2):c.703C>T (p.Arg235Trp) rs144133177 0.00071
NM_002292.4(LAMB2):c.3582C>T (p.Phe1194=) rs138540017 0.00068
NM_002292.4(LAMB2):c.816T>C (p.Tyr272=) rs151251039 0.00061
NM_002292.4(LAMB2):c.2974A>G (p.Ile992Val) rs529614319 0.00051
NM_002292.4(LAMB2):c.3325G>A (p.Glu1109Lys) rs79677861 0.00036
NM_002292.4(LAMB2):c.1305C>T (p.Ser435=) rs144530798 0.00034
NM_002292.4(LAMB2):c.598G>A (p.Val200Ile) rs149325182 0.00034
NM_002292.4(LAMB2):c.5039C>T (p.Ala1680Val) rs141473691 0.00033
NM_002292.4(LAMB2):c.4304C>T (p.Pro1435Leu) rs140968382 0.00032
NM_002292.4(LAMB2):c.4952G>A (p.Arg1651Gln) rs142896683 0.00032
NM_002292.4(LAMB2):c.2922G>C (p.Gly974=) rs145465720 0.00031
NM_002292.4(LAMB2):c.4928A>G (p.Gln1643Arg) rs201844235 0.00031
NM_002292.4(LAMB2):c.2095G>C (p.Gly699Arg) rs28364667 0.00030
NM_002292.4(LAMB2):c.4370G>A (p.Arg1457Gln) rs148818522 0.00029
NM_002292.4(LAMB2):c.4140C>A (p.Asn1380Lys) rs267607207 0.00028
NM_002292.4(LAMB2):c.5142G>A (p.Lys1714=) rs139511264 0.00027
NM_002292.4(LAMB2):c.1762C>G (p.Pro588Ala) rs144324168 0.00026
NM_002292.4(LAMB2):c.1886C>T (p.Pro629Leu) rs148491867 0.00026
NM_002292.4(LAMB2):c.2322C>G (p.Thr774=) rs142116851 0.00026
NM_002292.4(LAMB2):c.2660A>T (p.Asn887Ile) rs376553423 0.00026
NM_002292.4(LAMB2):c.1931G>A (p.Arg644His) rs200738080 0.00025
NM_002292.4(LAMB2):c.5061G>A (p.Thr1687=) rs150465100 0.00025
NM_002292.4(LAMB2):c.915+16C>T rs376022767 0.00025
NM_002292.4(LAMB2):c.101C>A (p.Ala34Asp) rs202057459 0.00024
NM_002292.4(LAMB2):c.2271C>A (p.Ser757Arg) rs143405268 0.00021
NM_002292.4(LAMB2):c.5233G>A (p.Ala1745Thr) rs142041381 0.00021
NM_002292.4(LAMB2):c.253G>A (p.Glu85Lys) rs140371771 0.00020
NM_002292.4(LAMB2):c.3674G>A (p.Gly1225Asp) rs150013302 0.00019
NM_002292.4(LAMB2):c.4149C>A (p.His1383Gln) rs150064487 0.00019
NM_002292.4(LAMB2):c.4306C>T (p.Arg1436Cys) rs200127858 0.00019
NM_002292.4(LAMB2):c.5379C>G (p.Ile1793Met) rs11550620 0.00019
NM_002292.4(LAMB2):c.648+19G>T rs375860511 0.00019
NM_002292.4(LAMB2):c.914T>C (p.Met305Thr) rs199794467 0.00019
NM_002292.4(LAMB2):c.460-8C>G rs200141829 0.00018
NM_002292.4(LAMB2):c.5109C>T (p.Arg1703=) rs151292828 0.00018
NM_002292.4(LAMB2):c.1558C>T (p.Arg520Cys) rs36050330 0.00016
NM_002292.4(LAMB2):c.1797C>T (p.Phe599=) rs376785056 0.00016
NM_002292.4(LAMB2):c.2344+14A>T rs369733428 0.00016
NM_002292.4(LAMB2):c.4257T>C (p.Ala1419=) rs149536828 0.00016
NM_002292.4(LAMB2):c.4878G>A (p.Arg1626=) rs148648480 0.00016
NM_002292.4(LAMB2):c.1014C>T (p.Asp338=) rs150731491 0.00014
NM_002292.4(LAMB2):c.2432G>A (p.Arg811His) rs201223945 0.00014
NM_002292.4(LAMB2):c.2434C>T (p.Arg812Cys) rs151134957 0.00014
NM_002292.4(LAMB2):c.284G>A (p.Arg95His) rs147691227 0.00014
NM_002292.4(LAMB2):c.4070C>T (p.Pro1357Leu) rs141074838 0.00014
NM_002292.4(LAMB2):c.4148A>G (p.His1383Arg) rs754983373 0.00014
NM_002292.4(LAMB2):c.4438A>G (p.Thr1480Ala) rs146110649 0.00014
NM_002292.4(LAMB2):c.4559A>G (p.Lys1520Arg) rs148069401 0.00013
NM_002292.4(LAMB2):c.1206G>A (p.Arg402=) rs201999373 0.00012
NM_002292.4(LAMB2):c.1442G>A (p.Ser481Asn) rs144230655 0.00012
NM_002292.4(LAMB2):c.2488+6C>G rs371384656 0.00012
NM_002292.4(LAMB2):c.2720+11A>G rs370034592 0.00012
NM_002292.4(LAMB2):c.5213C>T (p.Ala1738Val) rs139156815 0.00012
NM_002292.4(LAMB2):c.5286T>C (p.Asn1762=) rs781092208 0.00012
NM_002292.4(LAMB2):c.1542C>T (p.His514=) rs150783390 0.00011
NM_002292.4(LAMB2):c.1559G>A (p.Arg520His) rs148333147 0.00011
NM_002292.4(LAMB2):c.189T>C (p.Thr63=) rs200171185 0.00011
NM_002292.4(LAMB2):c.3355G>A (p.Gly1119Ser) rs199570781 0.00011
NM_002292.4(LAMB2):c.4425C>T (p.Ser1475=) rs140142444 0.00011
NM_002292.4(LAMB2):c.4444C>T (p.Arg1482Trp) rs755963903 0.00011
NM_002292.4(LAMB2):c.4694G>T (p.Ser1565Ile) rs373872524 0.00011
NM_002292.4(LAMB2):c.2167C>T (p.Arg723Cys) rs145660751 0.00010
NM_002292.4(LAMB2):c.5108G>A (p.Arg1703His) rs771531508 0.00010
NM_002292.4(LAMB2):c.2639A>G (p.Asn880Ser) rs781619412 0.00009
NM_002292.4(LAMB2):c.4274G>C (p.Gly1425Ala) rs141317511 0.00009
NM_002292.4(LAMB2):c.4958T>C (p.Leu1653Pro) rs200761921 0.00009
NM_002292.4(LAMB2):c.1575C>T (p.Asp525=) rs138230622 0.00008
NM_002292.4(LAMB2):c.2489-7C>T rs374958213 0.00008
NM_002292.4(LAMB2):c.4225-5G>C rs372161777 0.00008
NM_002292.4(LAMB2):c.1201C>G (p.Leu401Val) rs148956392 0.00007
NM_002292.4(LAMB2):c.2295C>T (p.Cys765=) rs201289156 0.00007
NM_002292.4(LAMB2):c.3470G>A (p.Arg1157His) rs766772811 0.00007
NM_002292.4(LAMB2):c.787C>T (p.Arg263Trp) rs200316162 0.00007
NM_002292.4(LAMB2):c.795G>A (p.Glu265=) rs375953746 0.00007
NM_002292.4(LAMB2):c.*92A>G rs886058670 0.00006
NM_002292.4(LAMB2):c.1226-5G>A rs545564814 0.00006
NM_002292.4(LAMB2):c.1327C>T (p.His443Tyr) rs200732790 0.00006
NM_002292.4(LAMB2):c.1422A>C (p.Ala474=) rs201408584 0.00006
NM_002292.4(LAMB2):c.1750C>A (p.Arg584Ser) rs369408727 0.00006
NM_002292.4(LAMB2):c.1890+19A>C rs763388406 0.00006
NM_002292.4(LAMB2):c.2029T>C (p.Phe677Leu) rs373260991 0.00006
NM_002292.4(LAMB2):c.2099G>A (p.Gly700Glu) rs142860588 0.00006
NM_002292.4(LAMB2):c.280C>T (p.Arg94Trp) rs754551568 0.00006
NM_002292.4(LAMB2):c.2890C>T (p.Arg964Ter) rs730880125 0.00006
NM_002292.4(LAMB2):c.2945G>A (p.Arg982Gln) rs149653966 0.00006
NM_002292.4(LAMB2):c.2983A>G (p.Met995Val) rs773681564 0.00006
NM_002292.4(LAMB2):c.3141G>A (p.Pro1047=) rs373002075 0.00006
NM_002292.4(LAMB2):c.3232C>T (p.Arg1078Cys) rs143284092 0.00006
NM_002292.4(LAMB2):c.3498A>G (p.Pro1166=) rs186771094 0.00006
NM_002292.4(LAMB2):c.3533G>A (p.Arg1178His) rs565229873 0.00006
NM_002292.4(LAMB2):c.3641G>A (p.Arg1214Gln) rs202135107 0.00006
NM_002292.4(LAMB2):c.385+5G>A rs540191089 0.00006
NM_002292.4(LAMB2):c.4071T>C (p.Pro1357=) rs770830943 0.00006
NM_002292.4(LAMB2):c.4573+5G>A rs372438959 0.00006
NM_002292.4(LAMB2):c.4951C>T (p.Arg1651Trp) rs200165604 0.00006
NM_002292.4(LAMB2):c.800G>A (p.Arg267Gln) rs772368832 0.00006
NM_002292.4(LAMB2):c.915+6G>A rs2071677 0.00006
NM_002292.4(LAMB2):c.1284C>A (p.Asp428Glu) rs770637532 0.00005
NM_002292.4(LAMB2):c.1891-11C>T rs778444207 0.00005
NM_002292.4(LAMB2):c.2885-8G>A rs374181186 0.00005
NM_002292.4(LAMB2):c.3140C>T (p.Pro1047Leu) rs758124972 0.00005
NM_002292.4(LAMB2):c.3324C>T (p.Asn1108=) rs757491995 0.00005
NM_002292.4(LAMB2):c.3617C>T (p.Ala1206Val) rs750000849 0.00005
NM_002292.4(LAMB2):c.3797+5G>A rs150213016 0.00005
NM_002292.4(LAMB2):c.386-15C>T rs117575041 0.00005
NM_002292.4(LAMB2):c.4337C>T (p.Ala1446Val) rs757984116 0.00005
NM_002292.4(LAMB2):c.5260+13G>A rs368567142 0.00005
NM_002292.3(LAMB2):c.-241T>C rs886058680 0.00004
NM_002292.4(LAMB2):c.1015G>A (p.Gly339Ser) rs376294474 0.00004
NM_002292.4(LAMB2):c.1391G>A (p.Arg464His) rs188487818 0.00004
NM_002292.4(LAMB2):c.1552G>A (p.Gly518Ser) rs567153631 0.00004
NM_002292.4(LAMB2):c.1572C>T (p.Cys524=) rs111883392 0.00004
NM_002292.4(LAMB2):c.1789T>C (p.Ser597Pro) rs764346736 0.00004
NM_002292.4(LAMB2):c.2089C>T (p.Arg697Trp) rs149304508 0.00004
NM_002292.4(LAMB2):c.2152C>T (p.Leu718=) rs756535650 0.00004
NM_002292.4(LAMB2):c.2218C>T (p.Arg740Cys) rs748798004 0.00004
NM_002292.4(LAMB2):c.2236C>T (p.Arg746Cys) rs200658738 0.00004
NM_002292.4(LAMB2):c.2262G>A (p.Leu754=) rs756931255 0.00004
NM_002292.4(LAMB2):c.2724C>T (p.Cys908=) rs142012138 0.00004
NM_002292.4(LAMB2):c.3221C>T (p.Pro1074Leu) rs753249251 0.00004
NM_002292.4(LAMB2):c.3442C>T (p.Arg1148Cys) rs762984990 0.00004
NM_002292.4(LAMB2):c.3494G>A (p.Arg1165His) rs374189761 0.00004
NM_002292.4(LAMB2):c.359G>A (p.Arg120Gln) rs767595866 0.00004
NM_002292.4(LAMB2):c.3619C>T (p.Arg1207Cys) rs372032732 0.00004
NM_002292.4(LAMB2):c.3756C>T (p.Ala1252=) rs773560262 0.00004
NM_002292.4(LAMB2):c.3757G>A (p.Ala1253Thr) rs141062242 0.00004
NM_002292.4(LAMB2):c.3772C>G (p.Leu1258Val) rs771785818 0.00004
NM_002292.4(LAMB2):c.3797+4C>T rs368346725 0.00004
NM_002292.4(LAMB2):c.3826C>T (p.Leu1276=) rs754393937 0.00004
NM_002292.4(LAMB2):c.4001G>C (p.Arg1334Pro) rs144783830 0.00004
NM_002292.4(LAMB2):c.4043A>G (p.Asn1348Ser) rs771215576 0.00004
NM_002292.4(LAMB2):c.4369C>T (p.Arg1457Trp) rs151037751 0.00004
NM_002292.4(LAMB2):c.4749C>T (p.Ala1583=) rs555885061 0.00004
NM_002292.4(LAMB2):c.4858A>G (p.Ile1620Val) rs778561883 0.00004
NM_002292.4(LAMB2):c.5020C>T (p.Arg1674Trp) rs138816491 0.00004
NM_002292.4(LAMB2):c.5021G>A (p.Arg1674Gln) rs764128779 0.00004
NM_002292.4(LAMB2):c.115G>A (p.Val39Met) rs541668395 0.00003
NM_002292.4(LAMB2):c.1383C>T (p.Ile461=) rs373952285 0.00003
NM_002292.4(LAMB2):c.1403G>A (p.Arg468Gln) rs572289637 0.00003
NM_002292.4(LAMB2):c.1423C>T (p.Arg475Trp) rs144487632 0.00003
NM_002292.4(LAMB2):c.1681C>T (p.Arg561Trp) rs748395355 0.00003
NM_002292.4(LAMB2):c.1851G>A (p.Lys617=) rs1131791 0.00003
NM_002292.4(LAMB2):c.2152-5T>C rs774738392 0.00003
NM_002292.4(LAMB2):c.2186T>A (p.Met729Lys) rs376660822 0.00003
NM_002292.4(LAMB2):c.2219G>A (p.Arg740His) rs781721930 0.00003
NM_002292.4(LAMB2):c.2459A>T (p.Tyr820Phe) rs746761674 0.00003
NM_002292.4(LAMB2):c.249+1G>A rs779317615 0.00003
NM_002292.4(LAMB2):c.2774G>A (p.Arg925Gln) rs536235346 0.00003
NM_002292.4(LAMB2):c.3026G>A (p.Arg1009His) rs776023210 0.00003
NM_002292.4(LAMB2):c.3044A>T (p.Glu1015Val) rs1269838719 0.00003
NM_002292.4(LAMB2):c.3330C>G (p.Phe1110Leu) rs145578707 0.00003
NM_002292.4(LAMB2):c.3596G>A (p.Arg1199Gln) rs751242273 0.00003
NM_002292.4(LAMB2):c.3620G>A (p.Arg1207His) rs1447799031 0.00003
NM_002292.4(LAMB2):c.4011T>C (p.His1337=) rs886058671 0.00003
NM_002292.4(LAMB2):c.4097A>G (p.His1366Arg) rs201519651 0.00003
NM_002292.4(LAMB2):c.4305G>A (p.Pro1435=) rs371257983 0.00003
NM_002292.4(LAMB2):c.4742G>A (p.Arg1581His) rs149601073 0.00003
NM_002292.4(LAMB2):c.4863C>G (p.Ala1621=) rs753340192 0.00003
NM_002292.4(LAMB2):c.4998C>T (p.Leu1666=) rs143723352 0.00003
NM_002292.4(LAMB2):c.5175G>T (p.Leu1725=) rs773743605 0.00003
NM_002292.4(LAMB2):c.5261-8C>T rs377454604 0.00003
NM_002292.4(LAMB2):c.646G>A (p.Glu216Lys) rs368339529 0.00003
NM_002292.4(LAMB2):c.661G>A (p.Val221Met) rs748711014 0.00003
NM_002292.4(LAMB2):c.696C>T (p.Tyr232=) rs183480534 0.00003
NM_002292.4(LAMB2):c.713-7G>A rs200186640 0.00003
NM_002292.4(LAMB2):c.76+10C>T rs370554848 0.00003
NM_002292.4(LAMB2):c.8T>C (p.Leu3Pro) rs373955878 0.00003
NM_002292.4(LAMB2):c.1018C>T (p.His340Tyr) rs903919410 0.00002
NM_002292.4(LAMB2):c.1169G>A (p.Arg390Gln) rs151276385 0.00002
NM_002292.4(LAMB2):c.1196A>G (p.Lys399Arg) rs749901949 0.00002
NM_002292.4(LAMB2):c.1222C>T (p.Arg408Cys) rs759728774 0.00002
NM_002292.4(LAMB2):c.1477del (p.Cys493fs) rs969481454 0.00002
NM_002292.4(LAMB2):c.1518+5G>A rs768311062 0.00002
NM_002292.4(LAMB2):c.1573G>A (p.Asp525Asn) rs200694459 0.00002
NM_002292.4(LAMB2):c.1682G>A (p.Arg561Gln) rs866448113 0.00002
NM_002292.4(LAMB2):c.1738G>A (p.Asp580Asn) rs779353027 0.00002
NM_002292.4(LAMB2):c.1768G>A (p.Glu590Lys) rs1405443471 0.00002
NM_002292.4(LAMB2):c.1891-10G>A rs746381319 0.00002
NM_002292.4(LAMB2):c.1930C>T (p.Arg644Cys) rs766396792 0.00002
NM_002292.4(LAMB2):c.2061C>G (p.Ile687Met) rs912735454 0.00002
NM_002292.4(LAMB2):c.2179C>G (p.Leu727Val) rs760463111 0.00002
NM_002292.4(LAMB2):c.2296G>A (p.Ala766Thr) rs763101025 0.00002
NM_002292.4(LAMB2):c.250-14C>T rs371403310 0.00002
NM_002292.4(LAMB2):c.2727T>C (p.Ile909=) rs376904255 0.00002
NM_002292.4(LAMB2):c.2810G>A (p.Arg937Gln) rs201235061 0.00002
NM_002292.4(LAMB2):c.2840A>T (p.Glu947Val) rs753039246 0.00002
NM_002292.4(LAMB2):c.2869C>T (p.Arg957Trp) rs372148651 0.00002
NM_002292.4(LAMB2):c.2870G>A (p.Arg957Gln) rs764846938 0.00002
NM_002292.4(LAMB2):c.2891G>A (p.Arg964Gln) rs774551290 0.00002
NM_002292.4(LAMB2):c.2944C>T (p.Arg982Trp) rs530751136 0.00002
NM_002292.4(LAMB2):c.3115A>C (p.Thr1039Pro) rs747604203 0.00002
NM_002292.4(LAMB2):c.3233G>A (p.Arg1078His) rs373712709 0.00002
NM_002292.4(LAMB2):c.3273T>C (p.Gly1091=) rs369406683 0.00002
NM_002292.4(LAMB2):c.3302G>A (p.Arg1101Gln) rs140199337 0.00002
NM_002292.4(LAMB2):c.3595C>T (p.Arg1199Ter) rs754597019 0.00002
NM_002292.4(LAMB2):c.3662C>T (p.Thr1221Met) rs770277410 0.00002
NM_002292.4(LAMB2):c.3837C>T (p.Leu1279=) rs775950352 0.00002
NM_002292.4(LAMB2):c.395C>T (p.Ala132Val) rs766482429 0.00002
NM_002292.4(LAMB2):c.4094G>A (p.Arg1365Gln) rs375964293 0.00002
NM_002292.4(LAMB2):c.4100G>C (p.Arg1367Pro) rs753524295 0.00002
NM_002292.4(LAMB2):c.4307G>A (p.Arg1436His) rs377526198 0.00002
NM_002292.4(LAMB2):c.4328A>G (p.Asn1443Ser) rs1327659310 0.00002
NM_002292.4(LAMB2):c.4469G>A (p.Arg1490Gln) rs533452341 0.00002
NM_002292.4(LAMB2):c.4516G>A (p.Glu1506Lys) rs1277967384 0.00002
NM_002292.4(LAMB2):c.4674G>A (p.Ala1558=) rs769673385 0.00002
NM_002292.4(LAMB2):c.4690C>T (p.Arg1564Trp) rs780366815 0.00002
NM_002292.4(LAMB2):c.4877G>A (p.Arg1626Gln) rs752674803 0.00002
NM_002292.4(LAMB2):c.4897C>T (p.Arg1633Trp) rs763067343 0.00002
NM_002292.4(LAMB2):c.5026G>A (p.Gly1676Arg) rs200747448 0.00002
NM_002292.4(LAMB2):c.5027G>T (p.Gly1676Val) rs199580679 0.00002
NM_002292.4(LAMB2):c.5346C>T (p.Ser1782=) rs754156525 0.00002
NM_002292.4(LAMB2):c.583C>T (p.Arg195Trp) rs147986864 0.00002
NM_002292.4(LAMB2):c.864C>T (p.His288=) rs141473567 0.00002
NM_002292.4(LAMB2):c.991C>T (p.Leu331=) rs561241970 0.00002
NM_002292.4(LAMB2):c.1068C>T (p.Cys356=) rs751259636 0.00001
NM_002292.4(LAMB2):c.1074C>T (p.Phe358=) rs765736533 0.00001
NM_002292.4(LAMB2):c.1211C>T (p.Pro404Leu) rs760505149 0.00001
NM_002292.4(LAMB2):c.1218G>A (p.Val406=) rs1284533242 0.00001
NM_002292.4(LAMB2):c.1261G>A (p.Gly421Ser) rs762273762 0.00001
NM_002292.4(LAMB2):c.1311G>A (p.Gln437=) rs754837577 0.00001
NM_002292.4(LAMB2):c.1329T>C (p.His443=) rs1131787 0.00001
NM_002292.4(LAMB2):c.1357C>T (p.Arg453Cys) rs765252703 0.00001
NM_002292.4(LAMB2):c.1358G>A (p.Arg453His) rs1428596182 0.00001
NM_002292.4(LAMB2):c.1390_1391insA (p.Arg464fs) rs1560075930 0.00001
NM_002292.4(LAMB2):c.1392T>A (p.Arg464=) rs922993666 0.00001
NM_002292.4(LAMB2):c.1394_1396del (p.Leu465_Gly466delinsArg) rs1277599013 0.00001
NM_002292.4(LAMB2):c.1405+9C>T rs1462037846 0.00001
NM_002292.4(LAMB2):c.1498C>T (p.Arg500Cys) rs199518288 0.00001
NM_002292.4(LAMB2):c.149C>T (p.Ala50Val) rs758825199 0.00001
NM_002292.4(LAMB2):c.1518+4C>T rs902115828 0.00001
NM_002292.4(LAMB2):c.1519-5T>C rs1242908578 0.00001
NM_002292.4(LAMB2):c.1543G>A (p.Asp515Asn) rs1255092475 0.00001
NM_002292.4(LAMB2):c.1551C>T (p.Leu517=) rs761329288 0.00001
NM_002292.4(LAMB2):c.1564del (p.Cys522fs) rs1377725272 0.00001
NM_002292.4(LAMB2):c.1648C>T (p.Arg550Ter) rs1218889239 0.00001
NM_002292.4(LAMB2):c.1651C>T (p.Arg551Cys) rs766282298 0.00001
NM_002292.4(LAMB2):c.1802G>A (p.Arg601Gln) rs760060166 0.00001
NM_002292.4(LAMB2):c.1862A>G (p.Tyr621Cys) rs373861923 0.00001
NM_002292.4(LAMB2):c.1877G>A (p.Arg626His) rs747329371 0.00001
NM_002292.4(LAMB2):c.1882G>C (p.Glu628Gln) rs763825655 0.00001
NM_002292.4(LAMB2):c.1890+9C>T rs1575535180 0.00001
NM_002292.4(LAMB2):c.1949C>A (p.Ala650Asp) rs777022967 0.00001
NM_002292.4(LAMB2):c.1965G>T (p.Gly655=) rs773783751 0.00001
NM_002292.4(LAMB2):c.2019-8G>A rs377396194 0.00001
NM_002292.4(LAMB2):c.2090G>A (p.Arg697Gln) rs764642268 0.00001
NM_002292.4(LAMB2):c.2168G>A (p.Arg723His) rs542505535 0.00001
NM_002292.4(LAMB2):c.216C>T (p.Gly72=) rs768806166 0.00001
NM_002292.4(LAMB2):c.2237G>A (p.Arg746His) rs141407145 0.00001
NM_002292.4(LAMB2):c.2258G>T (p.Gly753Val) rs780591744 0.00001
NM_002292.4(LAMB2):c.2297C>T (p.Ala766Val) rs773407518 0.00001
NM_002292.4(LAMB2):c.2330A>G (p.Tyr777Cys) rs772581224 0.00001
NM_002292.4(LAMB2):c.2373G>A (p.Leu791=) rs1478443594 0.00001
NM_002292.4(LAMB2):c.237C>T (p.Val79=) rs973849989 0.00001
NM_002292.4(LAMB2):c.2435G>A (p.Arg812His) rs886058674 0.00001
NM_002292.4(LAMB2):c.2470G>A (p.Gly824Ser) rs775759513 0.00001
NM_002292.4(LAMB2):c.252C>T (p.Asp84=) rs750432118 0.00001
NM_002292.4(LAMB2):c.2661C>A (p.Asn887Lys) rs1461585400 0.00001
NM_002292.4(LAMB2):c.2669C>T (p.Thr890Ile) rs527639885 0.00001
NM_002292.4(LAMB2):c.2690G>A (p.Arg897His) rs375392013 0.00001
NM_002292.4(LAMB2):c.2720+13C>A rs369359244 0.00001
NM_002292.4(LAMB2):c.2721-10C>T rs747925923 0.00001
NM_002292.4(LAMB2):c.2726T>C (p.Ile909Thr) rs201756319 0.00001
NM_002292.4(LAMB2):c.2739C>T (p.His913=) rs750691273 0.00001
NM_002292.4(LAMB2):c.2749C>T (p.Arg917Trp) rs754155232 0.00001
NM_002292.4(LAMB2):c.2754G>T (p.Leu918=) rs766013008 0.00001
NM_002292.4(LAMB2):c.2773C>T (p.Arg925Trp) rs190191113 0.00001
NM_002292.4(LAMB2):c.2903G>A (p.Cys968Tyr) rs771183113 0.00001
NM_002292.4(LAMB2):c.2908C>T (p.Pro970Ser) rs1271329821 0.00001
NM_002292.4(LAMB2):c.2961G>C (p.Glu987Asp) rs146232955 0.00001
NM_002292.4(LAMB2):c.2984T>C (p.Met995Thr) rs769328932 0.00001
NM_002292.4(LAMB2):c.3036C>A (p.His1012Gln) rs777538430 0.00001
NM_002292.4(LAMB2):c.3045G>A (p.Glu1015=) rs746638105 0.00001
NM_002292.4(LAMB2):c.3071C>T (p.Pro1024Leu) rs368506627 0.00001
NM_002292.4(LAMB2):c.3088G>A (p.Ala1030Thr) rs879255374 0.00001
NM_002292.4(LAMB2):c.3109+13G>C rs750600086 0.00001
NM_002292.4(LAMB2):c.3109+1G>A rs888830612 0.00001
NM_002292.4(LAMB2):c.3109C>T (p.Arg1037Cys) rs201159870 0.00001
NM_002292.4(LAMB2):c.3118T>A (p.Cys1040Ser) rs149560677 0.00001
NM_002292.4(LAMB2):c.3123C>A (p.Asn1041Lys) rs754842572 0.00001
NM_002292.4(LAMB2):c.3287C>A (p.Ala1096Asp) rs746590503 0.00001
NM_002292.4(LAMB2):c.3294C>T (p.His1098=) rs376981766 0.00001
NM_002292.4(LAMB2):c.3327+8A>C rs756229789 0.00001
NM_002292.4(LAMB2):c.3547A>G (p.Ile1183Val) rs370877359 0.00001
NM_002292.4(LAMB2):c.3573T>C (p.His1191=) rs1343630379 0.00001
NM_002292.4(LAMB2):c.358C>T (p.Arg120Trp) rs1271143265 0.00001
NM_002292.4(LAMB2):c.3640C>T (p.Arg1214Trp) rs760524944 0.00001
NM_002292.4(LAMB2):c.3664G>C (p.Gly1222Arg) rs748563846 0.00001
NM_002292.4(LAMB2):c.3708G>T (p.Glu1236Asp) rs753707094 0.00001
NM_002292.4(LAMB2):c.3727G>C (p.Gly1243Arg) rs755874006 0.00001
NM_002292.4(LAMB2):c.3753A>G (p.Ser1251=) rs771365551 0.00001
NM_002292.4(LAMB2):c.3763A>G (p.Thr1255Ala) rs1180166011 0.00001
NM_002292.4(LAMB2):c.3798-17C>G rs777266280 0.00001
NM_002292.4(LAMB2):c.3798-1G>C rs1131690793 0.00001
NM_002292.4(LAMB2):c.3806T>C (p.Ile1269Thr) rs750462831 0.00001
NM_002292.4(LAMB2):c.3838G>A (p.Glu1280Lys) rs532092193 0.00001
NM_002292.4(LAMB2):c.385+7C>G rs766856881 0.00001
NM_002292.4(LAMB2):c.385+9A>G rs763518000 0.00001
NM_002292.4(LAMB2):c.3870C>T (p.Asn1290=) rs138665073 0.00001
NM_002292.4(LAMB2):c.3973A>G (p.Asn1325Asp) rs776150106 0.00001
NM_002292.4(LAMB2):c.4037G>A (p.Arg1346His) rs149144377 0.00001
NM_002292.4(LAMB2):c.4060G>A (p.Val1354Ile) rs1013824488 0.00001
NM_002292.4(LAMB2):c.4139A>G (p.Asn1380Ser) rs372463037 0.00001
NM_002292.4(LAMB2):c.4157A>G (p.Asn1386Ser) rs769093652 0.00001
NM_002292.4(LAMB2):c.4201del (p.Ser1401fs) rs754137583 0.00001
NM_002292.4(LAMB2):c.4224+8T>C rs1417484328 0.00001
NM_002292.4(LAMB2):c.4227G>A (p.Val1409=) rs766376770 0.00001
NM_002292.4(LAMB2):c.4308C>T (p.Arg1436=) rs746450659 0.00001
NM_002292.4(LAMB2):c.431A>G (p.His144Arg) rs765594517 0.00001
NM_002292.4(LAMB2):c.4338G>A (p.Ala1446=) rs549450963 0.00001
NM_002292.4(LAMB2):c.4347A>C (p.Ala1449=) rs202083663 0.00001
NM_002292.4(LAMB2):c.4363C>T (p.Arg1455Trp) rs901971113 0.00001
NM_002292.4(LAMB2):c.4367C>T (p.Ala1456Val) rs1040319445 0.00001
NM_002292.4(LAMB2):c.4393C>T (p.Arg1465Trp) rs771487133 0.00001
NM_002292.4(LAMB2):c.440A>G (p.His147Arg) rs387906644 0.00001
NM_002292.4(LAMB2):c.4459G>T (p.Ala1487Ser) rs917006966 0.00001
NM_002292.4(LAMB2):c.4482C>T (p.Ala1494=) rs199894011 0.00001
NM_002292.4(LAMB2):c.4489A>G (p.Lys1497Glu) rs771769006 0.00001
NM_002292.4(LAMB2):c.4573+1G>A rs1387723456 0.00001
NM_002292.4(LAMB2):c.4573C>T (p.Gln1525Ter) rs376983109 0.00001
NM_002292.4(LAMB2):c.4590T>C (p.Pro1530=) rs2045328429 0.00001
NM_002292.4(LAMB2):c.4613C>T (p.Thr1538Ile) rs781065313 0.00001
NM_002292.4(LAMB2):c.4626G>A (p.Glu1542=) rs754100998 0.00001
NM_002292.4(LAMB2):c.4645G>T (p.Ala1549Ser) rs764494090 0.00001
NM_002292.4(LAMB2):c.4667C>T (p.Ala1556Val) rs774045808 0.00001
NM_002292.4(LAMB2):c.4668G>A (p.Ala1556=) rs766074746 0.00001
NM_002292.4(LAMB2):c.4676T>C (p.Ile1559Thr) rs748097623 0.00001
NM_002292.4(LAMB2):c.467G>A (p.Arg156His) rs1378409559 0.00001
NM_002292.4(LAMB2):c.4712C>T (p.Ala1571Val) rs371490301 0.00001
NM_002292.4(LAMB2):c.4722A>G (p.Ala1574=) rs371619654 0.00001
NM_002292.4(LAMB2):c.4723C>T (p.Arg1575Cys) rs754337557 0.00001
NM_002292.4(LAMB2):c.4741C>T (p.Arg1581Cys) rs374187759 0.00001
NM_002292.4(LAMB2):c.4762C>T (p.Gln1588Ter) rs775456607 0.00001
NM_002292.4(LAMB2):c.4781+8C>T rs1287875231 0.00001
NM_002292.4(LAMB2):c.47G>C (p.Trp16Ser) rs1051360734 0.00001
NM_002292.4(LAMB2):c.4804del (p.Gln1602fs) rs769399002 0.00001
NM_002292.4(LAMB2):c.4848G>A (p.Arg1616=) rs567190427 0.00001
NM_002292.4(LAMB2):c.4874T>A (p.Ile1625Asn) rs763488594 0.00001
NM_002292.4(LAMB2):c.4882G>A (p.Ala1628Thr) rs774017887 0.00001
NM_002292.4(LAMB2):c.4888G>A (p.Ala1630Thr) rs144938183 0.00001
NM_002292.4(LAMB2):c.4954G>A (p.Ala1652Thr) rs1294654447 0.00001
NM_002292.4(LAMB2):c.4987T>C (p.Leu1663=) rs371375999 0.00001
NM_002292.4(LAMB2):c.513C>T (p.Thr171=) rs367900776 0.00001
NM_002292.4(LAMB2):c.5155C>T (p.Arg1719Cys) rs201458234 0.00001
NM_002292.4(LAMB2):c.5205G>T (p.Arg1735=) rs1297843307 0.00001
NM_002292.4(LAMB2):c.5261-7T>C rs1382458545 0.00001
NM_002292.4(LAMB2):c.5274C>G (p.Thr1758=) rs769621530 0.00001
NM_002292.4(LAMB2):c.527G>A (p.Arg176Gln) rs924410863 0.00001
NM_002292.4(LAMB2):c.690C>T (p.Asp230=) rs1387224411 0.00001
NM_002292.4(LAMB2):c.713-3C>T rs775876911 0.00001
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp) rs121912488 0.00001
NM_002292.4(LAMB2):c.77-9T>C rs563352159 0.00001
NM_002292.4(LAMB2):c.872A>G (p.Glu291Gly) rs757452525 0.00001
NM_002292.4(LAMB2):c.891G>A (p.Gly297=) rs774672207 0.00001
NM_002292.4(LAMB2):c.900C>T (p.Ala300=) rs776149180 0.00001
NM_002292.4(LAMB2):c.918G>T (p.Val306=) rs775116965 0.00001
NM_002292.4(LAMB2):c.922G>A (p.Gly308Arg) rs774169261 0.00001
NM_002292.4(LAMB2):c.938A>G (p.Lys313Arg) rs770959758 0.00001
NM_002292.4(LAMB2):c.950G>A (p.Arg317His) rs144771072 0.00001
NM_002292.4(LAMB2):c.951T>A (p.Arg317=) rs755050242 0.00001
NC_000003.12:g.49122085_49122087del
NM_002292.3(LAMB2):c.-200C>T rs886058679
NM_002292.3(LAMB2):c.-252T>C rs886058681
NM_002292.3(LAMB2):c.-279A>T rs886058682
NM_002292.3(LAMB2):c.1037_1038del rs1170845795
NM_002292.3(LAMB2):c.[1307delG];[3798-1G>C]
NM_002292.4(LAMB2):c.-12C>A rs768032929
NM_002292.4(LAMB2):c.-146G>T rs886058678
NM_002292.4(LAMB2):c.1000C>A (p.Arg334Ser) rs187004232
NM_002292.4(LAMB2):c.1001G>A (p.Arg334His)
NM_002292.4(LAMB2):c.1017C>T (p.Gly339=)
NM_002292.4(LAMB2):c.1023T>A (p.Ser341Arg) rs1308318910
NM_002292.4(LAMB2):c.1032T>C (p.Cys344=)
NM_002292.4(LAMB2):c.1036+18C>T
NM_002292.4(LAMB2):c.1037-7C>T
NM_002292.4(LAMB2):c.103C>T (p.Pro35Ser)
NM_002292.4(LAMB2):c.107C>T (p.Ala36Val)
NM_002292.4(LAMB2):c.1082C>T (p.Ala361Val) rs1270231900
NM_002292.4(LAMB2):c.1083C>T (p.Ala361=)
NM_002292.4(LAMB2):c.1107G>C (p.Val369=)
NM_002292.4(LAMB2):c.1117G>A (p.Val373Met)
NM_002292.4(LAMB2):c.1122T>A (p.Cys374Ter) rs121912490
NM_002292.4(LAMB2):c.114T>C (p.Asp38=) rs2107645801
NM_002292.4(LAMB2):c.1150C>T (p.Arg384Cys)
NM_002292.4(LAMB2):c.1164C>G (p.Leu388=)
NM_002292.4(LAMB2):c.1168C>T (p.Arg390Trp)
NM_002292.4(LAMB2):c.116T>A (p.Val39Glu)
NM_002292.4(LAMB2):c.1183C>G (p.Arg395Gly) rs967800410
NM_002292.4(LAMB2):c.1201C>T (p.Leu401=)
NM_002292.4(LAMB2):c.1222C>A (p.Arg408Ser) rs759728774
NM_002292.4(LAMB2):c.1223G>A (p.Arg408His)
NM_002292.4(LAMB2):c.1224C>T (p.Arg408=)
NM_002292.4(LAMB2):c.1225+20C>T
NM_002292.4(LAMB2):c.1226-15T>A
NM_002292.4(LAMB2):c.1241_1242dup (p.Met415fs) rs1367444910
NM_002292.4(LAMB2):c.1257C>A (p.Asp419Glu) rs146643686
NM_002292.4(LAMB2):c.1257C>T (p.Asp419=)
NM_002292.4(LAMB2):c.1258G>A (p.Gly420Ser)
NM_002292.4(LAMB2):c.1262G>A (p.Gly421Asp)
NM_002292.4(LAMB2):c.1276del (p.His426fs) rs2107643346
NM_002292.4(LAMB2):c.130del (p.Arg44fs) rs2107645768
NM_002292.4(LAMB2):c.1316G>A (p.Arg439His)
NM_002292.4(LAMB2):c.1352A>G (p.Gln451Arg) rs1575535913
NM_002292.4(LAMB2):c.1371T>C (p.Phe457=)
NM_002292.4(LAMB2):c.1386T>G (p.Ser462Arg)
NM_002292.4(LAMB2):c.1405+1G>A
NM_002292.4(LAMB2):c.1406-11C>T
NM_002292.4(LAMB2):c.1406G>A (p.Arg469Gln) rs1166721867
NM_002292.4(LAMB2):c.1413A>G (p.Gln471=)
NM_002292.4(LAMB2):c.1414T>C (p.Cys472Arg) rs746963326
NM_002292.4(LAMB2):c.1424G>A (p.Arg475Gln)
NM_002292.4(LAMB2):c.1433T>C (p.Val478Ala)
NM_002292.4(LAMB2):c.1446T>C (p.Thr482=) rs778631081
NM_002292.4(LAMB2):c.1455C>T (p.Asp485=)
NM_002292.4(LAMB2):c.1459A>G (p.Asn487Asp)
NM_002292.4(LAMB2):c.147C>T (p.Pro49=)
NM_002292.4(LAMB2):c.1488del (p.Leu496_Val497insTer) rs2107643014
NM_002292.4(LAMB2):c.1499G>A (p.Arg500His) rs759499306
NM_002292.4(LAMB2):c.1511G>A (p.Arg504His)
NM_002292.4(LAMB2):c.1518+3G>A rs2045459387
NM_002292.4(LAMB2):c.1519-14C>T
NM_002292.4(LAMB2):c.1519-20C>T
NM_002292.4(LAMB2):c.1519-6G>A rs755545118
NM_002292.4(LAMB2):c.1519-7C>T
NM_002292.4(LAMB2):c.152C>T (p.Thr51Met) rs748829288
NM_002292.4(LAMB2):c.1540C>T (p.His514Tyr)
NM_002292.4(LAMB2):c.1563C>T (p.Pro521=)
NM_002292.4(LAMB2):c.1569C>T (p.Asp523=) rs1169038040
NM_002292.4(LAMB2):c.1576G>A (p.Val526Met)
NM_002292.4(LAMB2):c.1599-1G>T rs1330915067
NM_002292.4(LAMB2):c.1614A>T (p.Thr538=) rs2107642728
NM_002292.4(LAMB2):c.1634A>C (p.Gln545Pro)
NM_002292.4(LAMB2):c.1637A>T (p.His546Leu)
NM_002292.4(LAMB2):c.1652G>A (p.Arg551His)
NM_002292.4(LAMB2):c.1654T>C (p.Cys552Arg) rs2045454131
NM_002292.4(LAMB2):c.165G>A (p.Leu55=)
NM_002292.4(LAMB2):c.1668A>C (p.Gln556His) rs2045453433
NM_002292.4(LAMB2):c.1683G>T (p.Arg561=) rs760427008
NM_002292.4(LAMB2):c.1731+10C>T
NM_002292.4(LAMB2):c.1731+16C>A
NM_002292.4(LAMB2):c.1731+16del rs766983720
NM_002292.4(LAMB2):c.1732-14G>C
NM_002292.4(LAMB2):c.173G>A (p.Arg58Gln) rs2107645705
NM_002292.4(LAMB2):c.1750C>T (p.Arg584Cys) rs369408727
NM_002292.4(LAMB2):c.1752C>G (p.Arg584=) rs2107642446
NM_002292.4(LAMB2):c.1799T>C (p.Val600Ala)
NM_002292.4(LAMB2):c.1825G>C (p.Glu609Gln) rs888403715
NM_002292.4(LAMB2):c.1831C>T (p.Leu611=) rs886058676
NM_002292.4(LAMB2):c.1855A>G (p.Met619Val)
NM_002292.4(LAMB2):c.1873C>T (p.Leu625=)
NM_002292.4(LAMB2):c.1890+15T>C
NM_002292.4(LAMB2):c.1899G>A (p.Glu633=)
NM_002292.4(LAMB2):c.1901A>C (p.Gln634Pro)
NM_002292.4(LAMB2):c.191C>T (p.Ala64Val) rs766047117
NM_002292.4(LAMB2):c.1934dup (p.Gly646fs) rs750538204
NM_002292.4(LAMB2):c.1937G>A (p.Gly646Glu)
NM_002292.4(LAMB2):c.1945C>T (p.Pro649Ser)
NM_002292.4(LAMB2):c.1969T>C (p.Leu657=)
NM_002292.4(LAMB2):c.1971G>A (p.Leu657=) rs777566654
NM_002292.4(LAMB2):c.1980G>A (p.Lys660=) rs2107642118
NM_002292.4(LAMB2):c.1987C>T (p.Arg663Cys)
NM_002292.4(LAMB2):c.2018+12G>C
NM_002292.4(LAMB2):c.2018+2T>C
NM_002292.4(LAMB2):c.2018+8C>A rs1553778611
NM_002292.4(LAMB2):c.2019-5C>T rs772825098
NM_002292.4(LAMB2):c.2019-9C>T
NM_002292.4(LAMB2):c.2019G>A (p.Arg673=) rs748124251
NM_002292.4(LAMB2):c.204T>C (p.Cys68=)
NM_002292.4(LAMB2):c.2063C>G (p.Ser688Cys)
NM_002292.4(LAMB2):c.2067C>G (p.Tyr689Ter) rs121912489
NM_002292.4(LAMB2):c.2068A>C (p.Lys690Gln) rs1231932718
NM_002292.4(LAMB2):c.2070G>A (p.Lys690=)
NM_002292.4(LAMB2):c.2092A>C (p.Thr698Pro) rs369063535
NM_002292.4(LAMB2):c.2099G>C (p.Gly700Ala) rs142860588
NM_002292.4(LAMB2):c.2102G>T (p.Ser701Ile)
NM_002292.4(LAMB2):c.2121C>G (p.Pro707=)
NM_002292.4(LAMB2):c.2150C>T (p.Ser717Leu) rs374417189
NM_002292.4(LAMB2):c.2151+16T>C
NM_002292.4(LAMB2):c.2151G>A (p.Ser717=)
NM_002292.4(LAMB2):c.2152-10del
NM_002292.4(LAMB2):c.2152-14G>A rs921498722
NM_002292.4(LAMB2):c.2152-17C>T
NM_002292.4(LAMB2):c.2152-18C>T
NM_002292.4(LAMB2):c.2154G>A (p.Leu718=) rs886058675
NM_002292.4(LAMB2):c.2161C>T (p.Leu721=)
NM_002292.4(LAMB2):c.2163G>T (p.Leu721=)
NM_002292.4(LAMB2):c.2165C>A (p.Pro722His) rs764955129
NM_002292.4(LAMB2):c.2167C>G (p.Arg723Gly)
NM_002292.4(LAMB2):c.2170G>T (p.Val724Phe) rs1466437719
NM_002292.4(LAMB2):c.217C>G (p.Pro73Ala) rs1409779718
NM_002292.4(LAMB2):c.2212C>T (p.Leu738=)
NM_002292.4(LAMB2):c.2219G>T (p.Arg740Leu) rs781721930
NM_002292.4(LAMB2):c.2222A>C (p.Gln741Pro)
NM_002292.4(LAMB2):c.2224G>A (p.Ala742Thr) rs959473971
NM_002292.4(LAMB2):c.2249dup (p.His750fs)
NM_002292.4(LAMB2):c.2263G>C (p.Val755Leu) rs1560073886
NM_002292.4(LAMB2):c.2270G>A (p.Ser757Asn)
NM_002292.4(LAMB2):c.2284T>C (p.Ser762Pro) rs752188860
NM_002292.4(LAMB2):c.228C>T (p.Tyr76=) rs2107645646
NM_002292.4(LAMB2):c.2290G>A (p.Ala764Thr) rs1481245527
NM_002292.4(LAMB2):c.2322C>T (p.Thr774=)
NM_002292.4(LAMB2):c.2336G>A (p.Gly779Asp) rs200858061
NM_002292.4(LAMB2):c.2339C>T (p.Ala780Val) rs2107640102
NM_002292.4(LAMB2):c.2344+4_2344+7del rs774329010
NM_002292.4(LAMB2):c.2344C>T (p.Pro782Ser) rs199837675
NM_002292.4(LAMB2):c.2352G>T (p.Gln784His)
NM_002292.4(LAMB2):c.2357A>G (p.Asn786Ser)
NM_002292.4(LAMB2):c.2364_2393del (p.Gln788_Pro797del) rs2107640007
NM_002292.4(LAMB2):c.2390C>G (p.Pro797Arg)
NM_002292.4(LAMB2):c.2398G>A (p.Gly800Ser)
NM_002292.4(LAMB2):c.2408T>C (p.Leu803Pro) rs200477330
NM_002292.4(LAMB2):c.241C>T (p.His81Tyr)
NM_002292.4(LAMB2):c.2420G>T (p.Gly807Val) rs200740666
NM_002292.4(LAMB2):c.2429G>A (p.Gly810Glu)
NM_002292.4(LAMB2):c.2433C>T (p.Arg811=) rs2107639949
NM_002292.4(LAMB2):c.2450C>T (p.Ala817Val)
NM_002292.4(LAMB2):c.2473C>T (p.Pro825Ser)
NM_002292.4(LAMB2):c.2475C>T (p.Pro825=) rs1575533579
NM_002292.4(LAMB2):c.2480G>T (p.Gly827Val)
NM_002292.4(LAMB2):c.2488+12C>A
NM_002292.4(LAMB2):c.2489-10T>C
NM_002292.4(LAMB2):c.2489-20C>T
NM_002292.4(LAMB2):c.2489C>T (p.Ala830Val) rs2045403063
NM_002292.4(LAMB2):c.249+3G>A
NM_002292.4(LAMB2):c.249+8T>A
NM_002292.4(LAMB2):c.261G>A (p.Lys87=) rs149408554
NM_002292.4(LAMB2):c.261G>C (p.Lys87Asn) rs149408554
NM_002292.4(LAMB2):c.2640T>C (p.Asn880=)
NM_002292.4(LAMB2):c.2644C>T (p.His882Tyr) rs751697643
NM_002292.4(LAMB2):c.2698A>G (p.Thr900Ala)
NM_002292.4(LAMB2):c.2700_2701del (p.Gly901_Gly902insTer)
NM_002292.4(LAMB2):c.2702G>C (p.Gly901Ala) rs781530275
NM_002292.4(LAMB2):c.2711A>G (p.His904Arg) rs1238240581
NM_002292.4(LAMB2):c.2713T>C (p.Cys905Arg)
NM_002292.4(LAMB2):c.2721-11C>T
NM_002292.4(LAMB2):c.2756C>T (p.Pro919Leu)
NM_002292.4(LAMB2):c.2765G>T (p.Gly922Val)
NM_002292.4(LAMB2):c.2766C>T (p.Gly922=)
NM_002292.4(LAMB2):c.2798C>G (p.Pro933Arg) rs2045396597
NM_002292.4(LAMB2):c.27G>A (p.Gly9=)
NM_002292.4(LAMB2):c.283C>A (p.Arg95Ser)
NM_002292.4(LAMB2):c.283C>T (p.Arg95Cys)
NM_002292.4(LAMB2):c.284G>C (p.Arg95Pro) rs147691227
NM_002292.4(LAMB2):c.2854A>T (p.Ile952Phe) rs146962414
NM_002292.4(LAMB2):c.2862C>G (p.Cys954Trp) rs1376202280
NM_002292.4(LAMB2):c.2877C>G (p.Gly959=)
NM_002292.4(LAMB2):c.2879A>G (p.Tyr960Cys)
NM_002292.4(LAMB2):c.2883G>C (p.Thr961=) rs1205212867
NM_002292.4(LAMB2):c.2884+15del rs769133638
NM_002292.4(LAMB2):c.2884+1del
NM_002292.4(LAMB2):c.2884+20C>T
NM_002292.4(LAMB2):c.2901T>G (p.Ala967=)
NM_002292.4(LAMB2):c.2923G>A (p.Asp975Asn)
NM_002292.4(LAMB2):c.2936C>G (p.Pro979Arg) rs1575532774
NM_002292.4(LAMB2):c.2957G>A (p.Cys986Tyr) rs2045393494
NM_002292.4(LAMB2):c.3012G>A (p.Thr1004=)
NM_002292.4(LAMB2):c.3015del (p.Gln1006fs) rs1560072794
NM_002292.4(LAMB2):c.3025C>T (p.Arg1009Cys)
NM_002292.4(LAMB2):c.302A>G (p.Asp101Gly)
NM_002292.4(LAMB2):c.3033A>G (p.Leu1011=)
NM_002292.4(LAMB2):c.3036C>T (p.His1012=) rs777538430
NM_002292.4(LAMB2):c.3038A>G (p.His1013Arg) rs2045392366
NM_002292.4(LAMB2):c.3052C>G (p.His1018Asp)
NM_002292.4(LAMB2):c.3059C>A (p.Ala1020Asp) rs780053995
NM_002292.4(LAMB2):c.3094C>T (p.Arg1032Ter)
NM_002292.4(LAMB2):c.3095G>A (p.Arg1032Gln)
NM_002292.4(LAMB2):c.3109+15G>A
NM_002292.4(LAMB2):c.3109+1G>T rs888830612
NM_002292.4(LAMB2):c.310C>T (p.His104Tyr) rs552475229
NM_002292.4(LAMB2):c.3110-17C>T
NM_002292.4(LAMB2):c.3110-20G>C rs2107638777
NM_002292.4(LAMB2):c.3110-3C>T rs2045390515
NM_002292.4(LAMB2):c.3152C>T (p.Pro1051Leu)
NM_002292.4(LAMB2):c.3154T>C (p.Ser1052Pro) rs2107638715
NM_002292.4(LAMB2):c.3157_3159del (p.Pro1053del) rs756027369
NM_002292.4(LAMB2):c.3170A>G (p.His1057Arg) rs2107638700
NM_002292.4(LAMB2):c.3177T>C (p.Asp1059=) rs2107638694
NM_002292.4(LAMB2):c.3192G>C (p.Gln1064His) rs1553778039
NM_002292.4(LAMB2):c.3198A>G (p.Pro1066=) rs886058673
NM_002292.4(LAMB2):c.3200G>A (p.Cys1067Tyr)
NM_002292.4(LAMB2):c.3218del (p.Gly1073fs)
NM_002292.4(LAMB2):c.3241C>T (p.Pro1081Ser) rs1247420057
NM_002292.4(LAMB2):c.3251G>A (p.Trp1084Ter)
NM_002292.4(LAMB2):c.3261C>T (p.Thr1087=)
NM_002292.4(LAMB2):c.3270T>C (p.His1090=)
NM_002292.4(LAMB2):c.3327+16G>A
NM_002292.4(LAMB2):c.3328-16C>T
NM_002292.4(LAMB2):c.3328-1G>C
NM_002292.4(LAMB2):c.3403G>C (p.Asp1135His)
NM_002292.4(LAMB2):c.3413T>G (p.Leu1138Trp) rs1404267963
NM_002292.4(LAMB2):c.3424+14C>T
NM_002292.4(LAMB2):c.3424+15G>A
NM_002292.4(LAMB2):c.3424+15G>C
NM_002292.4(LAMB2):c.3425-11C>T
NM_002292.4(LAMB2):c.3425-16C>G
NM_002292.4(LAMB2):c.3425-7C>A rs2045383891
NM_002292.4(LAMB2):c.3425C>G (p.Ala1142Gly)
NM_002292.4(LAMB2):c.3427T>C (p.Cys1143Arg) rs774018819
NM_002292.4(LAMB2):c.3464G>A (p.Cys1155Tyr)
NM_002292.4(LAMB2):c.3477_3483del (p.Gly1160fs) rs1357326383
NM_002292.4(LAMB2):c.3493C>T (p.Arg1165Cys) rs746391965
NM_002292.4(LAMB2):c.3517dup (p.Cys1173fs)
NM_002292.4(LAMB2):c.3521A>C (p.Asp1174Ala) rs765996794
NM_002292.4(LAMB2):c.3560G>A (p.Cys1187Tyr) rs760892618
NM_002292.4(LAMB2):c.3583G>T (p.Gly1195Trp)
NM_002292.4(LAMB2):c.3598G>C (p.Val1200Leu)
NM_002292.4(LAMB2):c.3612G>C (p.Leu1204Phe)
NM_002292.4(LAMB2):c.3613G>A (p.Ala1205Thr) rs953343840
NM_002292.4(LAMB2):c.3628C>T (p.Arg1210Cys)
NM_002292.4(LAMB2):c.3642G>C (p.Arg1214=)
NM_002292.4(LAMB2):c.3644C>G (p.Ala1215Gly) rs140456179
NM_002292.4(LAMB2):c.3654G>A (p.Leu1218=)
NM_002292.4(LAMB2):c.3659A>T (p.Gln1220Leu) rs2107638059
NM_002292.4(LAMB2):c.3666T>G (p.Gly1222=)
NM_002292.4(LAMB2):c.3690C>T (p.Ser1230=) rs2045379733
NM_002292.4(LAMB2):c.3690_3697del (p.Ser1230fs)
NM_002292.4(LAMB2):c.3712C>T (p.Leu1238=)
NM_002292.4(LAMB2):c.3718A>G (p.Ile1240Val) rs1447852720
NM_002292.4(LAMB2):c.3747C>T (p.Asn1249=) rs763159475
NM_002292.4(LAMB2):c.3764C>G (p.Thr1255Ser)
NM_002292.4(LAMB2):c.3765T>C (p.Thr1255=)
NM_002292.4(LAMB2):c.3798-14C>G
NM_002292.4(LAMB2):c.3798-16C>A rs373780035
NM_002292.4(LAMB2):c.3798-16del rs750912455
NM_002292.4(LAMB2):c.3798-18C>A rs377738420
NM_002292.4(LAMB2):c.3798-18C>T
NM_002292.4(LAMB2):c.3798-19C>G
NM_002292.4(LAMB2):c.3800G>A (p.Arg1267His)
NM_002292.4(LAMB2):c.3810G>A (p.Gly1270=)
NM_002292.4(LAMB2):c.3811G>A (p.Glu1271Lys) rs1560071889
NM_002292.4(LAMB2):c.3813G>A (p.Glu1271=)
NM_002292.4(LAMB2):c.3842C>T (p.Ala1281Val)
NM_002292.4(LAMB2):c.3856G>A (p.Val1286Met)
NM_002292.4(LAMB2):c.386-11_393del
NM_002292.4(LAMB2):c.386-14G>T
NM_002292.4(LAMB2):c.3875A>G (p.Asn1292Ser) rs148246465
NM_002292.4(LAMB2):c.3882_3892del (p.Asn1294fs) rs2045374891
NM_002292.4(LAMB2):c.3887C>T (p.Ala1296Val) rs1260666701
NM_002292.4(LAMB2):c.3927C>G (p.Leu1309=)
NM_002292.4(LAMB2):c.3928A>C (p.Thr1310Pro) rs2045374454
NM_002292.4(LAMB2):c.3930A>G (p.Thr1310=)
NM_002292.4(LAMB2):c.3935G>A (p.Arg1312Gln)
NM_002292.4(LAMB2):c.396G>A (p.Ala132=)
NM_002292.4(LAMB2):c.3982+8G>A
NM_002292.4(LAMB2):c.3983-10C>T rs2107637548
NM_002292.4(LAMB2):c.3989A>G (p.Tyr1330Cys)
NM_002292.4(LAMB2):c.3995G>A (p.Ser1332Asn) rs980152482
NM_002292.4(LAMB2):c.399C>T (p.Val133=)
NM_002292.4(LAMB2):c.4001G>A (p.Arg1334Gln) rs144783830
NM_002292.4(LAMB2):c.4004A>G (p.His1335Arg) rs775944984
NM_002292.4(LAMB2):c.4007C>G (p.Ala1336Gly) rs886058672
NM_002292.4(LAMB2):c.4007C>T (p.Ala1336Val) rs886058672
NM_002292.4(LAMB2):c.4013G>A (p.Ser1338Asn)
NM_002292.4(LAMB2):c.4033C>T (p.Arg1345Cys) rs775469931
NM_002292.4(LAMB2):c.4039G>A (p.Ala1347Thr) rs2107637483
NM_002292.4(LAMB2):c.4044T>C (p.Asn1348=)
NM_002292.4(LAMB2):c.4067G>A (p.Ser1356Asn) rs2045371078
NM_002292.4(LAMB2):c.4075A>G (p.Ser1359Gly) rs2107637455
NM_002292.4(LAMB2):c.4093C>T (p.Arg1365Trp)
NM_002292.4(LAMB2):c.4095G>C (p.Arg1365=)
NM_002292.4(LAMB2):c.4133A>G (p.Asp1378Gly)
NM_002292.4(LAMB2):c.4134C>T (p.Asp1378=) rs774234171
NM_002292.4(LAMB2):c.4150A>T (p.Met1384Leu) rs781135874
NM_002292.4(LAMB2):c.4171G>C (p.Gly1391Arg)
NM_002292.4(LAMB2):c.4198_4199del (p.Leu1400fs)
NM_002292.4(LAMB2):c.4200G>A (p.Leu1400=)
NM_002292.4(LAMB2):c.4212C>A (p.Asp1404Glu)
NM_002292.4(LAMB2):c.4224+19G>A rs114913744
NM_002292.4(LAMB2):c.4224+19G>C rs114913744
NM_002292.4(LAMB2):c.4225-17T>C
NM_002292.4(LAMB2):c.4225-7del rs759390686
NM_002292.4(LAMB2):c.4276dup (p.Ala1426fs) rs2045366127
NM_002292.4(LAMB2):c.4299G>A (p.Gly1433=) rs1165303917
NM_002292.4(LAMB2):c.4304C>G (p.Pro1435Arg)
NM_002292.4(LAMB2):c.4323C>G (p.Ser1441Arg) rs1575531255
NM_002292.4(LAMB2):c.4349A>G (p.Asp1450Gly) rs2107637062
NM_002292.4(LAMB2):c.4364G>C (p.Arg1455Pro)
NM_002292.4(LAMB2):c.4394G>A (p.Arg1465Gln)
NM_002292.4(LAMB2):c.4398A>G (p.Ala1466=) rs1575531010
NM_002292.4(LAMB2):c.4415G>C (p.Ser1472Thr) rs1377720264
NM_002292.4(LAMB2):c.4422C>T (p.Leu1474=)
NM_002292.4(LAMB2):c.4442G>A (p.Arg1481His)
NM_002292.4(LAMB2):c.4444C>A (p.Arg1482=)
NM_002292.4(LAMB2):c.4455C>T (p.Ser1485=)
NM_002292.4(LAMB2):c.4460C>T (p.Ala1487Val) rs2107636624
NM_002292.4(LAMB2):c.4488C>A (p.Asp1496Glu)
NM_002292.4(LAMB2):c.4498G>C (p.Ala1500Pro) rs1029156575
NM_002292.4(LAMB2):c.4510_4552del (p.Gln1504fs) rs2045352880
NM_002292.4(LAMB2):c.4524C>G (p.Ala1508=)
NM_002292.4(LAMB2):c.4553G>A (p.Ser1518Asn)
NM_002292.4(LAMB2):c.4573+13C>T
NM_002292.4(LAMB2):c.4573+19C>T
NM_002292.4(LAMB2):c.4573+6C>T
NM_002292.4(LAMB2):c.4573+8T>C
NM_002292.4(LAMB2):c.4574-16del
NM_002292.4(LAMB2):c.4574-6C>T
NM_002292.4(LAMB2):c.460-16A>G
NM_002292.4(LAMB2):c.460-18_460-17dup
NM_002292.4(LAMB2):c.460-8C>A
NM_002292.4(LAMB2):c.460-8C>T
NM_002292.4(LAMB2):c.4666G>A (p.Ala1556Thr)
NM_002292.4(LAMB2):c.4671T>C (p.Gly1557=)
NM_002292.4(LAMB2):c.4673C>T (p.Ala1558Val)
NM_002292.4(LAMB2):c.4678G>A (p.Ala1560Thr) rs768495334
NM_002292.4(LAMB2):c.4683G>A (p.Glu1561=)
NM_002292.4(LAMB2):c.4689C>T (p.Val1563=) rs2045317445
NM_002292.4(LAMB2):c.469C>T (p.Pro157Ser) rs2107644945
NM_002292.4(LAMB2):c.4702G>A (p.Asp1568Asn)
NM_002292.4(LAMB2):c.4707G>A (p.Val1569=) rs1575528672
NM_002292.4(LAMB2):c.4713G>A (p.Ala1571=)
NM_002292.4(LAMB2):c.471T>C (p.Pro157=) rs2107644941
NM_002292.4(LAMB2):c.4728T>C (p.Thr1576=)
NM_002292.4(LAMB2):c.4729G>A (p.Val1577Ile)
NM_002292.4(LAMB2):c.473C>G (p.Ala158Gly)
NM_002292.4(LAMB2):c.4744C>T (p.Arg1582Cys)
NM_002292.4(LAMB2):c.4751A>G (p.Glu1584Gly) rs768491835
NM_002292.4(LAMB2):c.4753C>A (p.Gln1585Lys)
NM_002292.4(LAMB2):c.4755G>A (p.Gln1585=)
NM_002292.4(LAMB2):c.4759C>T (p.Leu1587=)
NM_002292.4(LAMB2):c.4770A>G (p.Ala1590=)
NM_002292.4(LAMB2):c.4773G>A (p.Arg1591=) rs771035328
NM_002292.4(LAMB2):c.4773dup (p.Arg1592fs) rs1553776921
NM_002292.4(LAMB2):c.4778C>A (p.Ala1593Glu) rs1011098102
NM_002292.4(LAMB2):c.4781+15C>T
NM_002292.4(LAMB2):c.4781+16T>C
NM_002292.4(LAMB2):c.4782-12C>T
NM_002292.4(LAMB2):c.4782-13C>T
NM_002292.4(LAMB2):c.4782-15_4782-10del rs1575527834
NM_002292.4(LAMB2):c.478A>G (p.Met160Val) rs2045483964
NM_002292.4(LAMB2):c.4802A>T (p.Lys1601Ile)
NM_002292.4(LAMB2):c.4806_4807del (p.Lys1603fs)
NM_002292.4(LAMB2):c.4816A>G (p.Thr1606Ala)
NM_002292.4(LAMB2):c.4821_4822delinsGA (p.Gln1608Lys) rs1560066776
NM_002292.4(LAMB2):c.4830A>T (p.Ala1610=)
NM_002292.4(LAMB2):c.4837G>A (p.Glu1613Lys)
NM_002292.4(LAMB2):c.4856G>A (p.Gly1619Asp) rs1318044416
NM_002292.4(LAMB2):c.4867G>A (p.Gly1623Ser)
NM_002292.4(LAMB2):c.4877G>C (p.Arg1626Pro) rs752674803
NM_002292.4(LAMB2):c.4882dup (p.Ala1628fs)
NM_002292.4(LAMB2):c.4898G>A (p.Arg1633Gln)
NM_002292.4(LAMB2):c.4908G>A (p.Glu1636=)
NM_002292.4(LAMB2):c.490C>T (p.Arg164Cys)
NM_002292.4(LAMB2):c.4919A>G (p.Tyr1640Cys) rs2045287048
NM_002292.4(LAMB2):c.491G>A (p.Arg164His) rs1187799924
NM_002292.4(LAMB2):c.4923+2T>G
NM_002292.4(LAMB2):c.4924-11A>G rs2107627906
NM_002292.4(LAMB2):c.4924-15G>C
NM_002292.4(LAMB2):c.4943G>A (p.Gly1648Asp) rs1271985841
NM_002292.4(LAMB2):c.4943G>T (p.Gly1648Val)
NM_002292.4(LAMB2):c.494C>T (p.Ser165Leu) rs2107644925
NM_002292.4(LAMB2):c.4965T>G (p.Ser1655=)
NM_002292.4(LAMB2):c.4967C>A (p.Ala1656Glu) rs2045271641
NM_002292.4(LAMB2):c.496G>A (p.Ala166Thr)
NM_002292.4(LAMB2):c.4982G>A (p.Arg1661Gln)
NM_002292.4(LAMB2):c.5026_5027delinsAT (p.Gly1676Ile) rs1575526216
NM_002292.4(LAMB2):c.5061G>C (p.Thr1687=)
NM_002292.4(LAMB2):c.5061G>T (p.Thr1687=) rs150465100
NM_002292.4(LAMB2):c.5100+6T>C
NM_002292.4(LAMB2):c.5100+7T>A
NM_002292.4(LAMB2):c.5109C>A (p.Arg1703=)
NM_002292.4(LAMB2):c.5115T>C (p.Pro1705=) rs28612476
NM_002292.4(LAMB2):c.5135C>A (p.Thr1712Lys) rs752667133
NM_002292.4(LAMB2):c.5136G>A (p.Thr1712=)
NM_002292.4(LAMB2):c.5156G>A (p.Arg1719His) rs1188203180
NM_002292.4(LAMB2):c.5159A>C (p.Lys1720Thr) rs2107624064
NM_002292.4(LAMB2):c.5186C>T (p.Ala1729Val) rs2045242099
NM_002292.4(LAMB2):c.5187A>T (p.Ala1729=)
NM_002292.4(LAMB2):c.5188_5193del (p.Arg1730_Ala1731del)
NM_002292.4(LAMB2):c.5210A>C (p.Glu1737Ala) rs2107623479
NM_002292.4(LAMB2):c.5230G>C (p.Ala1744Pro) rs1416518681
NM_002292.4(LAMB2):c.5232C>T (p.Ala1744=) rs1575524729
NM_002292.4(LAMB2):c.5240A>G (p.Asp1747Gly) rs777643155
NM_002292.4(LAMB2):c.5244G>A (p.Lys1748=) rs2107623089
NM_002292.4(LAMB2):c.5255T>A (p.Leu1752Gln) rs1575524600
NM_002292.4(LAMB2):c.5258dup (p.Glu1754fs) rs1560063136
NM_002292.4(LAMB2):c.52C>T (p.Leu18Phe)
NM_002292.4(LAMB2):c.5301G>A (p.Glu1767=)
NM_002292.4(LAMB2):c.5310A>T (p.Ala1770=)
NM_002292.4(LAMB2):c.5329G>A (p.Glu1777Lys) rs2045220448
NM_002292.4(LAMB2):c.5350C>T (p.Leu1784Phe) rs2045219198
NM_002292.4(LAMB2):c.5355A>G (p.Gln1785=)
NM_002292.4(LAMB2):c.5385C>T (p.Asn1795=)
NM_002292.4(LAMB2):c.539A>G (p.Tyr180Cys) rs1335383406
NM_002292.4(LAMB2):c.540T>C (p.Tyr180=) rs2107644885
NM_002292.4(LAMB2):c.560C>A (p.Pro187Gln)
NM_002292.4(LAMB2):c.563G>A (p.Gly188Glu) rs2045483102
NM_002292.4(LAMB2):c.584G>A (p.Arg195Gln)
NM_002292.4(LAMB2):c.594T>G (p.Asp198Glu) rs1344838792
NM_002292.4(LAMB2):c.603C>T (p.Val201=)
NM_002292.4(LAMB2):c.605G>A (p.Cys202Tyr) rs1575537041
NM_002292.4(LAMB2):c.615C>T (p.Arg205=)
NM_002292.4(LAMB2):c.624G>T (p.Glu208Asp)
NM_002292.4(LAMB2):c.633A>G (p.Pro211=)
NM_002292.4(LAMB2):c.636C>G (p.Ser212=) rs2045481971
NM_002292.4(LAMB2):c.649-14C>A
NM_002292.4(LAMB2):c.651C>G (p.Val217=)
NM_002292.4(LAMB2):c.656A>G (p.Tyr219Cys)
NM_002292.4(LAMB2):c.659G>A (p.Arg220His)
NM_002292.4(LAMB2):c.661G>T (p.Val221Leu) rs748711014
NM_002292.4(LAMB2):c.682A>G (p.Ile228Val)
NM_002292.4(LAMB2):c.701C>T (p.Ser234Leu) rs2107644618
NM_002292.4(LAMB2):c.704G>A (p.Arg235Gln)
NM_002292.4(LAMB2):c.704G>T (p.Arg235Leu) rs767154519
NM_002292.4(LAMB2):c.712+12_712+15dup
NM_002292.4(LAMB2):c.712+14C>T rs766701047
NM_002292.4(LAMB2):c.713-8C>T
NM_002292.4(LAMB2):c.713-9C>T
NM_002292.4(LAMB2):c.713-9_713-8del rs745849815
NM_002292.4(LAMB2):c.731A>C (p.Asn244Thr)
NM_002292.4(LAMB2):c.740T>C (p.Val247Ala) rs747693090
NM_002292.4(LAMB2):c.744C>T (p.Asn248=)
NM_002292.4(LAMB2):c.752_756dup (p.His253fs)
NM_002292.4(LAMB2):c.762G>A (p.Thr254=) rs201406827
NM_002292.4(LAMB2):c.763T>C (p.Leu255=) rs2107644353
NM_002292.4(LAMB2):c.77-4C>G
NM_002292.4(LAMB2):c.781G>A (p.Asp261Asn)
NM_002292.4(LAMB2):c.781G>T (p.Asp261Tyr)
NM_002292.4(LAMB2):c.783C>T (p.Asp261=)
NM_002292.4(LAMB2):c.794A>C (p.Glu265Ala) rs903021924
NM_002292.4(LAMB2):c.824A>C (p.Tyr275Ser) rs2107644271
NM_002292.4(LAMB2):c.839G>A (p.Arg280His)
NM_002292.4(LAMB2):c.876T>C (p.Cys292=)
NM_002292.4(LAMB2):c.881C>A (p.Pro294His) rs536441871
NM_002292.4(LAMB2):c.882C>G (p.Pro294=)
NM_002292.4(LAMB2):c.883G>A (p.Ala295Thr)
NM_002292.4(LAMB2):c.889G>A (p.Gly297Arg) rs2107644171
NM_002292.4(LAMB2):c.903T>A (p.His301Gln) rs565877727
NM_002292.4(LAMB2):c.915+14G>C
NM_002292.4(LAMB2):c.915+8G>T
NM_002292.4(LAMB2):c.916-10A>G
NM_002292.4(LAMB2):c.916-4A>G rs886058677
NM_002292.4(LAMB2):c.916-8CT[3]
NM_002292.4(LAMB2):c.970T>C (p.Cys324Arg) rs2045472442
NM_002292.4(LAMB2):c.986G>A (p.Arg329His)
NM_002292.4(LAMB2):c.99G>A (p.Gln33=) rs371368445

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