NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)
|
rs80356682
|
0.00049
|
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter)
|
rs80356681
|
0.00005
|
NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter)
|
rs747916314
|
0.00003
|
NM_000228.3(LAMB3):c.1063T>C (p.Cys355Arg)
|
rs532875477
|
0.00002
|
NM_005562.3(LAMC2):c.733C>T (p.Arg245Ter)
|
rs118203901
|
0.00002
|
NM_000228.3(LAMB3):c.430C>T (p.Arg144Ter)
|
rs759518184
|
0.00001
|
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys)
|
rs121912482
|
0.00001
|
NM_000494.4(COL17A1):c.2596G>A (p.Gly866Arg)
|
rs768705886
|
0.00001
|
NM_000494.4(COL17A1):c.3676C>T (p.Arg1226Ter)
|
rs121912769
|
0.00001
|
NM_005562.3(LAMC2):c.1045C>T (p.Arg349Ter)
|
rs772306395
|
0.00001
|
NM_198129.4(LAMA3):c.7204C>T (p.Arg2402Ter)
|
rs777713989
|
0.00001
|
NM_000210.4(ITGA6):c.1286C>A (p.Ser429Ter)
|
rs1686177024
|
|
NM_000228.3(LAMB3):c.1336G>T (p.Glu446Ter)
|
rs749069550
|
|
NM_000228.3(LAMB3):c.1439_1443del (p.Pro480fs)
|
rs786205095
|
|
NM_000228.3(LAMB3):c.1587_1588del (p.Gly530fs)
|
rs769151482
|
|
NM_000228.3(LAMB3):c.1634del (p.Gly545fs)
|
rs1666434871
|
|
NM_000228.3(LAMB3):c.2047del (p.Glu683fs)
|
rs1666320034
|
|
NM_000228.3(LAMB3):c.241C>T (p.Arg81Ter)
|
rs1064793896
|
|
NM_000228.3(LAMB3):c.3119G>A (p.Trp1040Ter)
|
rs1057516759
|
|
NM_000228.3(LAMB3):c.3228+1G>A
|
rs778026407
|
|
NM_000228.3(LAMB3):c.323T>C (p.Leu108Pro)
|
rs1464871076
|
|
NM_000228.3(LAMB3):c.429G>A (p.Trp143Ter)
|
rs369555024
|
|
NM_000494.4(COL17A1):c.1571_1572dup (p.Gln525fs)
|
rs2086520075
|
|
NM_000494.4(COL17A1):c.2228-3_2235delinsTTG
|
rs1554848576
|
|
NM_000494.4(COL17A1):c.2576dup (p.Gly860fs)
|
rs2086359795
|
|
NM_000494.4(COL17A1):c.3766+1G>A
|
rs2086256572
|
|
NM_000494.4(COL17A1):c.3827dup (p.Gly1277fs)
|
rs751058779
|
|
NM_000494.4(COL17A1):c.3828_3829insC (p.Gly1277fs)
|
rs2086249404
|
|
NM_000494.4(COL17A1):c.4156+1G>A
|
rs373469159
|
|
NM_005562.3(LAMC2):c.1782_1783del (p.Lys594fs)
|
rs1553266871
|
|
NM_005562.3(LAMC2):c.2015-2A>G
|
rs1659834817
|
|
NM_005562.3(LAMC2):c.2074C>T (p.Gln692Ter)
|
rs1659836821
|
|
NM_005562.3(LAMC2):c.2489dup (p.Leu830fs)
|
rs774734592
|
|
NM_005562.3(LAMC2):c.3343_3344del (p.Val1115fs)
|
rs1660171997
|
|
NM_005562.3(LAMC2):c.379G>T (p.Gly127Trp)
|
rs779546941
|
|
NM_005562.3(LAMC2):c.404+3_404+6del
|
rs1659229440
|
|
NM_198129.4(LAMA3):c.5546del (p.Gly1849fs)
|
rs760487161
|
|
NM_198129.4(LAMA3):c.6232_6233del (p.Gln2077_Ser2078insTer)
|
rs1158945258
|
|
NM_198129.4(LAMA3):c.6319-1G>T
|
rs2081155250
|
|
NM_198129.4(LAMA3):c.6348_6352delinsCTGGCAAGA (p.Glu2117fs)
|
rs2081156116
|
|
NM_198129.4(LAMA3):c.8755A>T (p.Lys2919Ter)
|
rs2145417826
|
|
NM_198129.4(LAMA3):c.9856G>T (p.Ala3286Ser)
|
rs2082978607
|
|