|
NM_000228.3(LAMB3):c.823-15C>T
|
rs4844863
|
0.84219
|
|
NM_000228.3(LAMB3):c.1716T>C (p.Cys572=)
|
rs2179402
|
0.74805
|
|
NM_000228.3(LAMB3):c.184-70A>G
|
rs2076357
|
0.57810
|
|
NM_000228.3(LAMB3):c.291A>C (p.Ser97=)
|
rs2076356
|
0.56410
|
|
NM_000228.3(LAMB3):c.3432A>G (p.Ser1144=)
|
rs1049607
|
0.44327
|
|
NM_000228.3(LAMB3):c.384C>T (p.Pro128=)
|
rs1130667
|
0.30741
|
|
NM_000228.3(LAMB3):c.1976+169T>C
|
rs4844860
|
0.29396
|
|
NM_000228.3(LAMB3):c.298+50T>A
|
rs2076355
|
0.28812
|
|
NM_000228.3(LAMB3):c.2556+60C>T
|
rs3737913
|
0.27290
|
|
NM_000228.3(LAMB3):c.*102C>T
|
rs2566
|
0.27226
|
|
NM_000228.3(LAMB3):c.138C>T (p.Thr46=)
|
rs2228339
|
0.25110
|
|
NM_000228.3(LAMB3):c.1579G>A (p.Val527Met)
|
rs2076349
|
0.12644
|
|
NM_000228.3(LAMB3):c.1486-18G>A
|
rs2076350
|
0.12625
|
|
NM_000228.3(LAMB3):c.1289-52G>A
|
rs2072938
|
0.12083
|
|
NM_000228.3(LAMB3):c.2673A>G (p.Leu891=)
|
rs3179860
|
0.11219
|
|
NM_000228.3(LAMB3):c.2554A>T (p.Met852Leu)
|
rs12748250
|
0.11215
|
|
NM_000228.3(LAMB3):c.1764T>C (p.Tyr588=)
|
rs2229465
|
0.02743
|
|
NM_000228.3(LAMB3):c.2777C>A (p.Ala926Asp)
|
rs2076222
|
0.02691
|
|
NM_000228.3(LAMB3):c.2124T>C (p.Ser708=)
|
rs2072937
|
0.02665
|
|
NM_000228.3(LAMB3):c.2069A>G (p.Asn690Ser)
|
rs2229466
|
0.02614
|
|
NM_000228.3(LAMB3):c.564+10G>A
|
rs12410975
|
0.02306
|
|
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)
|
rs80356682
|
0.00049
|
|
NM_000228.3(LAMB3):c.2963G>A (p.Arg988Gln)
|
rs142912342
|
0.00015
|
|
NM_000494.4(COL17A1):c.3277+1G>A
|
rs199527325
|
0.00010
|
|
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter)
|
rs80356680
|
0.00006
|
|
NM_000228.3(LAMB3):c.2632C>T (p.Arg878Cys)
|
rs199946321
|
0.00004
|
|
NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter)
|
rs747916314
|
0.00003
|
|
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.2397A>G (p.Ile799Met)
|
rs114544692
|
0.00001
|
|
NM_000494.4(COL17A1):c.460C>T (p.Arg154Ter)
|
rs1564685400
|
0.00001
|
|
NM_000228.3(LAMB3):c.-72C>A
|
rs543183724
|
|
|
NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter)
|
rs774174881
|
|
|
NM_000228.3(LAMB3):c.1288+1G>T
|
rs1186161867
|
|
|
NM_000228.3(LAMB3):c.1289-186G>A
|
rs61822212
|
|
|
NM_000228.3(LAMB3):c.1423G>A (p.Gly475Ser)
|
|
|
|
NM_000228.3(LAMB3):c.2842del (p.Val948fs)
|
rs772421306
|
|
|
NM_000228.3(LAMB3):c.2926del (p.Val976fs)
|
|
|
|
NM_000228.3(LAMB3):c.2962C>T (p.Arg988Trp)
|
rs2229467
|
|
|
NM_000228.3(LAMB3):c.31dup (p.Leu11fs)
|
rs777672897
|
|
|
NM_000228.3(LAMB3):c.3228+1G>A
|
rs778026407
|
|
|
NM_000228.3(LAMB3):c.3305del (p.Gly1102fs)
|
|
|
|
NM_000228.3(LAMB3):c.3340G>T (p.Glu1114Ter)
|
rs1553275195
|
|
|
NM_000228.3(LAMB3):c.3382+1G>A
|
rs112988476
|
|
|
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.3490C>T (p.Arg1164Cys)
|
|
|
|
NM_000228.3(LAMB3):c.628+2T>A
|
rs1666753666
|
|
|
NM_000228.3(LAMB3):c.655_656delinsTC (p.Val219Ser)
|
rs1666739864
|
|
|
NM_000228.3(LAMB3):c.822+33G>C
|
rs2072940
|
|
|
NM_000228.3(LAMB3):c.944-14C>G
|
|
|
|
NM_000494.4(COL17A1):c.1861G>A (p.Gly621Ser)
|
|
|
|
NM_000494.4(COL17A1):c.2011G>A (p.Gly671Ser)
|
|
|
|
NM_000494.4(COL17A1):c.2030G>A (p.Gly677Asp)
|
|
|
|
NM_000494.4(COL17A1):c.2435-1G>A
|
|
|
|
NM_000494.4(COL17A1):c.2912del (p.Pro971fs)
|
|
|
|
NM_000494.4(COL17A1):c.2947+2T>C
|
|
|
|
NM_000494.4(COL17A1):c.3297C>A (p.Tyr1099Ter)
|
|
|
|
NM_000494.4(COL17A1):c.3397C>T (p.Arg1133Cys)
|
|
|
|
NM_000494.4(COL17A1):c.340del (p.Ser114fs)
|
|
|
|
NM_000494.4(COL17A1):c.3456del (p.Pro1154fs)
|
|
|
|
NM_000494.4(COL17A1):c.3462_3463del (p.Gly1155fs)
|
|
|
|
NM_000494.4(COL17A1):c.3595G>C (p.Glu1199Gln)
|
|
|
|
NM_000494.4(COL17A1):c.3605C>T (p.Ser1202Leu)
|
|
|
|
NM_000494.4(COL17A1):c.4147_4148del (p.Ser1383fs)
|
|
|
|
NM_000494.4(COL17A1):c.541_550del (p.Asn181fs)
|
|
|