NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)
|
rs80356682
|
0.00049
|
NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs)
|
rs587776588
|
0.00018
|
NM_016519.6(AMBN):c.209C>G (p.Ser70Ter)
|
rs146148316
|
0.00011
|
NM_033068.3(ACP4):c.331C>T (p.Arg111Cys)
|
rs202073531
|
0.00011
|
NM_000494.4(COL17A1):c.3277+1G>A
|
rs199527325
|
0.00010
|
NM_000888.5(ITGB6):c.427G>A (p.Ala143Thr)
|
rs140015315
|
0.00010
|
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter)
|
rs80356680
|
0.00006
|
NM_033068.3(ACP4):c.226C>T (p.Arg76Cys)
|
rs1057519277
|
0.00004
|
NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter)
|
rs747916314
|
0.00003
|
NM_033068.3(ACP4):c.428C>T (p.Thr143Met)
|
rs546603773
|
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_000888.5(ITGB6):c.1846C>T (p.Arg616Ter)
|
rs730880297
|
0.00002
|
NM_033068.3(ACP4):c.382G>C (p.Ala128Pro)
|
rs767907487
|
0.00002
|
NM_000494.4(COL17A1):c.460C>T (p.Arg154Ter)
|
rs1564685400
|
0.00001
|
NM_033068.3(ACP4):c.397G>A (p.Glu133Lys)
|
rs779823931
|
0.00001
|
NM_033068.3(ACP4):c.713C>T (p.Ser238Leu)
|
rs763573828
|
0.00001
|
NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter)
|
rs774174881
|
|
NM_000228.3(LAMB3):c.2842del (p.Val948fs)
|
rs772421306
|
|
NM_000228.3(LAMB3):c.31dup (p.Leu11fs)
|
rs777672897
|
|
NM_000228.3(LAMB3):c.3228+1G>A
|
rs778026407
|
|
NM_000228.3(LAMB3):c.3340G>T (p.Glu1114Ter)
|
rs1553275195
|
|
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_000494.4(COL17A1):c.2912del (p.Pro971fs)
|
|
|
NM_000494.4(COL17A1):c.3297C>A (p.Tyr1099Ter)
|
|
|
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.4147_4148del (p.Ser1383fs)
|
|
|
NM_000494.4(COL17A1):c.541_550del (p.Asn181fs)
|
|
|
NM_000888.5(ITGB6):c.586C>A (p.Pro196Thr)
|
rs730880298
|
|
NM_000888.5(ITGB6):c.625G>T (p.Gly209Ter)
|
rs561588576
|
|
NM_000888.5(ITGB6):c.825T>A (p.His275Gln)
|
rs730882118
|
|
NM_016519.6(AMBN):c.294+140_531+479del
|
|
|
NM_016519.6(AMBN):c.532-1G>C
|
rs146238585
|
|
NM_016519.6(AMBN):c.539dup (p.Val181fs)
|
|
|
NM_031889.3(ENAM):c.123+2T>G
|
rs1553887511
|
|
NM_031889.3(ENAM):c.157A>T (p.Lys53Ter)
|
rs121908109
|
|
NM_031889.3(ENAM):c.1842C>G (p.Tyr614Ter)
|
rs1553888384
|
|
NM_031889.3(ENAM):c.534+1G>A
|
rs587776587
|
|
NM_031889.3(ENAM):c.588+1del
|
rs752102959
|
|
NM_031889.3(ENAM):c.664C>T (p.Gln222Ter)
|
|
|
NM_031889.3(ENAM):c.92T>G (p.Leu31Arg)
|
rs1060499539
|
|
NM_033068.3(ACP4):c.746C>T (p.Pro249Leu)
|
rs1085307111
|
|