NM_002292.4(LAMB2):c.2890C>T (p.Arg964Ter)
|
rs730880125
|
0.00006
|
NM_002292.4(LAMB2):c.1477del (p.Cys493fs)
|
rs969481454
|
0.00002
|
NM_002292.4(LAMB2):c.3595C>T (p.Arg1199Ter)
|
rs754597019
|
0.00002
|
NM_002292.4(LAMB2):c.1390_1391insA (p.Arg464fs)
|
rs1560075930
|
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.4201del (p.Ser1401fs)
|
rs754137583
|
0.00001
|
NM_002292.4(LAMB2):c.440A>G (p.His147Arg)
|
rs387906644
|
0.00001
|
NM_002292.4(LAMB2):c.4573C>T (p.Gln1525Ter)
|
rs376983109
|
0.00001
|
NM_002292.4(LAMB2):c.4762C>T (p.Gln1588Ter)
|
rs775456607
|
0.00001
|
NM_002292.4(LAMB2):c.4804del (p.Gln1602fs)
|
rs769399002
|
0.00001
|
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp)
|
rs121912488
|
0.00001
|
NC_000003.12:g.(?_49121216)_(49533209_?)del
|
|
|
NM_002292.3(LAMB2):c.1037_1038del
|
rs1170845795
|
|
NM_002292.3(LAMB2):c.[1307delG];[3798-1G>C]
|
|
|
NM_002292.4(LAMB2):c.1122T>A (p.Cys374Ter)
|
rs121912490
|
|
NM_002292.4(LAMB2):c.1241_1242dup (p.Met415fs)
|
rs1367444910
|
|
NM_002292.4(LAMB2):c.1276del (p.His426fs)
|
rs2107643346
|
|
NM_002292.4(LAMB2):c.1405+1G>A
|
|
|
NM_002292.4(LAMB2):c.1934dup (p.Gly646fs)
|
rs750538204
|
|
NM_002292.4(LAMB2):c.2018+2T>C
|
|
|
NM_002292.4(LAMB2):c.2067C>G (p.Tyr689Ter)
|
rs121912489
|
|
NM_002292.4(LAMB2):c.2249dup (p.His750fs)
|
|
|
NM_002292.4(LAMB2):c.2494C>T (p.Gln832Ter)
|
|
|
NM_002292.4(LAMB2):c.2884+1del
|
|
|
NM_002292.4(LAMB2):c.3015del (p.Gln1006fs)
|
rs1560072794
|
|
NM_002292.4(LAMB2):c.3094C>T (p.Arg1032Ter)
|
|
|
NM_002292.4(LAMB2):c.3218del (p.Gly1073fs)
|
|
|
NM_002292.4(LAMB2):c.3251G>A (p.Trp1084Ter)
|
|
|
NM_002292.4(LAMB2):c.3328-1G>C
|
|
|
NM_002292.4(LAMB2):c.3477_3483del (p.Gly1160fs)
|
rs1357326383
|
|
NM_002292.4(LAMB2):c.3517dup (p.Cys1173fs)
|
|
|
NM_002292.4(LAMB2):c.3690_3697del (p.Ser1230fs)
|
|
|
NM_002292.4(LAMB2):c.3882_3892del (p.Asn1294fs)
|
rs2045374891
|
|
NM_002292.4(LAMB2):c.4198_4199del (p.Leu1400fs)
|
|
|
NM_002292.4(LAMB2):c.4510_4552del (p.Gln1504fs)
|
rs2045352880
|
|
NM_002292.4(LAMB2):c.4773dup (p.Arg1592fs)
|
rs1553776921
|
|
NM_002292.4(LAMB2):c.4806_4807del (p.Lys1603fs)
|
|
|
NM_002292.4(LAMB2):c.5258dup (p.Glu1754fs)
|
rs1560063136
|
|
NM_002292.4(LAMB2):c.752_756dup (p.His253fs)
|
|
|