NM_002291.3(LAMB1):c.2723T>C (p.Ile908Thr)
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rs139487685
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0.00121
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NM_002291.3(LAMB1):c.4183G>A (p.Glu1395Lys)
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rs146045042
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0.00022
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NM_002291.3(LAMB1):c.2315-28A>G
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rs778943882
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0.00016
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NM_002291.3(LAMB1):c.4277G>C (p.Gly1426Ala)
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rs200107269
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0.00013
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NM_002291.3(LAMB1):c.5347A>G (p.Ser1783Gly)
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rs374245297
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0.00006
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NM_002291.3(LAMB1):c.1069G>A (p.Val357Ile)
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rs200303288
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0.00005
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NM_002291.3(LAMB1):c.1694G>A (p.Gly565Glu)
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rs376567054
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0.00004
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NM_002291.3(LAMB1):c.4237G>A (p.Gly1413Arg)
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rs369198991
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0.00004
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NM_002291.3(LAMB1):c.2270A>C (p.Asn757Thr)
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rs761321107
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0.00002
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NM_002291.3(LAMB1):c.2402G>A (p.Arg801Lys)
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rs755654690
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0.00002
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NM_002291.3(LAMB1):c.4648C>T (p.Arg1550Ter)
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rs1292231609
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0.00002
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NM_002291.3(LAMB1):c.4188G>C (p.Met1396Ile)
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rs754305761
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0.00001
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GRCh38/hg38 7q31.1(chr7:107951205-107952243)x0
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NM_002291.3(LAMB1):c.1000+1G>T
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NM_002291.3(LAMB1):c.1070T>C (p.Val357Ala)
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NM_002291.3(LAMB1):c.109C>T (p.Pro37Ser)
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NM_002291.3(LAMB1):c.1153C>G (p.Pro385Ala)
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rs535788456
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NM_002291.3(LAMB1):c.1189C>T (p.Arg397Ter)
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rs768323491
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NM_002291.3(LAMB1):c.1442G>T (p.Cys481Phe)
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rs879255267
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NM_002291.3(LAMB1):c.1526del (p.Pro509fs)
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NM_002291.3(LAMB1):c.1637G>A (p.Gly546Asp)
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NM_002291.3(LAMB1):c.1752_1756dup (p.Ala586fs)
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rs2150429989
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NM_002291.3(LAMB1):c.1925G>A (p.Arg642Gln)
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NM_002291.3(LAMB1):c.1974_1975dup (p.Pro659fs)
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rs2150428777
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NM_002291.3(LAMB1):c.1985+5G>T
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NM_002291.3(LAMB1):c.2092T>A (p.Tyr698Asn)
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rs1307088615
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NM_002291.3(LAMB1):c.2109+1G>T
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rs387907344
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NM_002291.3(LAMB1):c.234A>G (p.Ile78Met)
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NM_002291.3(LAMB1):c.2931del (p.Gln977fs)
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rs879255266
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NM_002291.3(LAMB1):c.2960C>T (p.Pro987Leu)
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NM_002291.3(LAMB1):c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT (p.Lys1049_Gln1053delinsProValLeuValSerSerTer)
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rs387907343
|
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NM_002291.3(LAMB1):c.3422C>T (p.Thr1141Met)
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NM_002291.3(LAMB1):c.3814T>A (p.Ser1272Thr)
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NM_002291.3(LAMB1):c.4188+1G>C
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NM_002291.3(LAMB1):c.4290T>G (p.Cys1430Trp)
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NM_002291.3(LAMB1):c.4363_4376del (p.Leu1455fs)
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rs2116327253
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NM_002291.3(LAMB1):c.4519A>T (p.Ile1507Phe)
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NM_002291.3(LAMB1):c.452A>G (p.Glu151Gly)
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rs745500256
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NM_002291.3(LAMB1):c.4540G>A (p.Asp1514Asn)
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NM_002291.3(LAMB1):c.455G>C (p.Arg152Pro)
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NM_002291.3(LAMB1):c.4562T>G (p.Ile1521Ser)
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rs199646967
|
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NM_002291.3(LAMB1):c.4999G>A (p.Gly1667Arg)
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NM_002291.3(LAMB1):c.785T>G (p.Val262Gly)
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NM_002291.3(LAMB1):c.979C>T (p.Arg327Ter)
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