NM_001364905.1(LRBA):c.7879T>C (p.Trp2627Arg)
|
rs200295901
|
0.00009
|
NM_001364905.1(LRBA):c.5518+2T>C
|
rs532289025
|
0.00004
|
NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala)
|
rs745608560
|
0.00003
|
NM_001364905.1(LRBA):c.1933C>T (p.Arg645Ter)
|
rs368167203
|
0.00001
|
NM_001364905.1(LRBA):c.2449C>T (p.Gln817Ter)
|
rs1345661967
|
0.00001
|
NM_001364905.1(LRBA):c.5645+2T>A
|
rs1181595292
|
0.00001
|
NM_001364905.1(LRBA):c.7766G>A (p.Cys2589Tyr)
|
rs544856639
|
0.00001
|
NC_000004.11:g.(?_151223757)_(151271331_?)dup
|
|
|
NC_000004.11:g.(?_151509219)_(151514947_?)del
|
|
|
NC_000004.11:g.(?_151604683)_(151604889_?)dup
|
|
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NC_000004.11:g.(?_151738256)_(151738429_?)dup
|
|
|
NM_001364905.1(LRBA):c.1319del (p.Pro440fs)
|
rs2546646309
|
|
NM_001364905.1(LRBA):c.1602+2T>C
|
|
|
NM_001364905.1(LRBA):c.1923_1924+11del
|
rs755373718
|
|
NM_001364905.1(LRBA):c.1924+2T>A
|
rs1730552437
|
|
NM_001364905.1(LRBA):c.216+1G>C
|
rs2546907359
|
|
NM_001364905.1(LRBA):c.2166-1G>C
|
rs2127009232
|
|
NM_001364905.1(LRBA):c.217-1G>A
|
|
|
NM_001364905.1(LRBA):c.2197G>T (p.Glu733Ter)
|
rs2546559508
|
|
NM_001364905.1(LRBA):c.2259-2A>G
|
rs2127004616
|
|
NM_001364905.1(LRBA):c.2449+1G>A
|
rs2546552538
|
|
NM_001364905.1(LRBA):c.2767-2A>G
|
rs1350061017
|
|
NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter)
|
rs1578999313
|
|
NM_001364905.1(LRBA):c.3661_3662dup (p.Thr1222fs)
|
|
|
NM_001364905.1(LRBA):c.3985_3986del (p.Asp1329fs)
|
|
|
NM_001364905.1(LRBA):c.4086_4087del (p.Gln1363fs)
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|
|
NM_001364905.1(LRBA):c.4139C>G (p.Ser1380Ter)
|
rs1353022856
|
|
NM_001364905.1(LRBA):c.4158+1G>C
|
rs2546490347
|
|
NM_001364905.1(LRBA):c.4159-1G>T
|
rs1750245794
|
|
NM_001364905.1(LRBA):c.4239del (p.Val1414fs)
|
rs2126905499
|
|
NM_001364905.1(LRBA):c.4300_4301del (p.Met1434fs)
|
|
|
NM_001364905.1(LRBA):c.4466del (p.Pro1489fs)
|
rs1439160668
|
|
NM_001364905.1(LRBA):c.4759_4762del (p.Thr1587fs)
|
rs747652653
|
|
NM_001364905.1(LRBA):c.476_549+580del
|
rs2546693049
|
|
NM_001364905.1(LRBA):c.4801C>T (p.Arg1601Ter)
|
rs1484948342
|
|
NM_001364905.1(LRBA):c.4947dup (p.Lys1650Ter)
|
|
|
NM_001364905.1(LRBA):c.5011dup (p.Ser1671fs)
|
rs2546422057
|
|
NM_001364905.1(LRBA):c.5519-1G>A
|
rs1302362911
|
|
NM_001364905.1(LRBA):c.5629del (p.Val1878fs)
|
|
|
NM_001364905.1(LRBA):c.5645+1G>C
|
rs2547368576
|
|
NM_001364905.1(LRBA):c.5755-1G>C
|
rs2547165271
|
|
NM_001364905.1(LRBA):c.5921+1G>A
|
rs2547164192
|
|
NM_001364905.1(LRBA):c.6046+1890A>T
|
|
|
NM_001364905.1(LRBA):c.6194-2A>G
|
rs1404249010
|
|
NM_001364905.1(LRBA):c.6331-2A>G
|
rs2152104087
|
|
NM_001364905.1(LRBA):c.6447_6448del (p.Arg2149fs)
|
rs1561254290
|
|
NM_001364905.1(LRBA):c.6551+1G>T
|
rs2546534919
|
|
NM_001364905.1(LRBA):c.6624_6625del (p.Glu2208fs)
|
rs727503779
|
|
NM_001364905.1(LRBA):c.7194+1G>T
|
|
|
NM_001364905.1(LRBA):c.7363-1G>T
|
rs2545893731
|
|
NM_001364905.1(LRBA):c.7490_7491del (p.Val2497fs)
|
|
|
NM_001364905.1(LRBA):c.7836_7840del (p.Ser2613fs)
|
rs1580974401
|
|
NM_001364905.1(LRBA):c.7850-1G>A
|
rs1729842757
|
|
NM_001364905.1(LRBA):c.8142_8145dup (p.Asn2716fs)
|
rs1264504989
|
|
NM_001364905.1(LRBA):c.863del (p.His288fs)
|
rs2149489382
|
|
NM_001364905.1(LRBA):c.928C>T (p.Arg310Ter)
|
rs1170974293
|
|