NM_000541.5(SAG):c.577C>T (p.Arg193Ter)
|
rs201153410
|
0.00020
|
NM_004628.5(XPC):c.2251-1G>C
|
rs754673606
|
0.00006
|
NM_000046.5(ARSB):c.478C>T (p.Arg160Ter)
|
rs1255777033
|
0.00002
|
NM_000380.4(XPA):c.619C>T (p.Arg207Ter)
|
rs104894133
|
0.00002
|
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter)
|
rs761860059
|
0.00002
|
NM_004628.5(XPC):c.1103_1104del (p.Gln368fs)
|
rs1450238352
|
0.00002
|
NM_000233.4(LHCGR):c.442G>T (p.Glu148Ter)
|
rs140568136
|
0.00001
|
NM_004628.5(XPC):c.1735C>T (p.Arg579Ter)
|
rs121965088
|
0.00001
|
NM_000046.5(ARSB):c.152T>C (p.Leu51Pro)
|
rs1554032220
|
|
NM_000046.5(ARSB):c.189_190insA (p.Gly64fs)
|
rs1554032196
|
|
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg)
|
rs749465732
|
|
NM_000046.5(ARSB):c.257del (p.Tyr86fs)
|
rs1554032122
|
|
NM_000046.5(ARSB):c.281C>T (p.Ser94Leu)
|
rs1554032099
|
|
NM_000046.5(ARSB):c.288C>G (p.Ser96Arg)
|
rs1554032095
|
|
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln)
|
rs1196325597
|
|
NM_000152.5(GAA):c.1193T>C (p.Leu398Pro)
|
rs1598577666
|
|
NM_000152.5(GAA):c.1431del (p.Ile477fs)
|
rs1598580364
|
|
NM_000152.5(GAA):c.2434G>A (p.Asp812Asn)
|
rs1433117170
|
|
NM_000380.4(XPA):c.374del (p.Thr125fs)
|
rs1828818571
|
|
NM_000380.4(XPA):c.553C>T (p.Gln185Ter)
|
rs1828741490
|
|
NM_000487.6(ARSA):c.1366C>T (p.Gln456Ter)
|
rs2082644196
|
|
NM_000487.6(ARSA):c.685-1G>A
|
rs2082676596
|
|
NM_000487.6(ARSA):c.712C>T (p.Gln238Ter)
|
rs751026400
|
|
NM_000487.6(ARSA):c.956_958del (p.Phe319del)
|
rs2082663514
|
|
NM_000541.5(SAG):c.648+1G>C
|
rs1700648887
|
|
NM_000541.5(SAG):c.649-1G>C
|
rs929766806
|
|
NM_001042492.3(NF1):c.2086_2088del (p.Trp696del)
|
rs2067017409
|
|
NM_001042492.3(NF1):c.2325+1G>T
|
rs1555613933
|
|
NM_001042492.3(NF1):c.3452dup (p.Asn1151fs)
|
rs2067137617
|
|
NM_001042492.3(NF1):c.3579T>G (p.Phe1193Leu)
|
rs2067142728
|
|
NM_001042492.3(NF1):c.4981_4984del (p.Lys1661fs)
|
rs2069329829
|
|
NM_001042492.3(NF1):c.6847dup (p.Asp2283fs)
|
rs2069743612
|
|
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)
|
rs267608327
|
|
NM_001110792.2(MECP2):c.1270_1373del (p.Val424fs)
|
rs1557135039
|
|
NM_001110792.2(MECP2):c.650_651del (p.Glu217fs)
|
rs1603309190
|
|
NM_001110792.2(MECP2):c.860_861del (p.Val287fs)
|
rs1557136374
|
|
NM_001110792.2(MECP2):c.917_1208del (p.Arg306fs)
|
rs1603307859
|
|
NM_001110792.2(MECP2):c.95del (p.Gly32fs)
|
rs1603310910
|
|
NM_001371623.1(TCOF1):c.4141G>T (p.Glu1381Ter)
|
rs1768581035
|
|
NM_001399.5(EDA):c.492del (p.Gly165fs)
|
rs2019019815
|
|
NM_001399.5(EDA):c.602G>A (p.Gly201Glu)
|
rs2147509771
|
|
NM_001399.5(EDA):c.620G>A (p.Gly207Glu)
|
rs2020139491
|
|
NM_001399.5(EDA):c.628G>A (p.Gly210Arg)
|
rs1556098733
|
|
NM_001399.5(EDA):c.659_676del (p.217_219PGP[1])
|
rs876657686
|
|
NM_001399.5(EDA):c.707-2A>T
|
rs2147511696
|
|
NM_001399.5(EDA):c.865C>T (p.Arg289Cys)
|
rs879255551
|
|
NM_001399.5(EDA):c.871G>A (p.Gly291Arg)
|
rs397516677
|
|
NM_001814.6(CTSC):c.622_628del (p.His208fs)
|
|
|
NM_002615.7(SERPINF1):c.1217_1253del (p.Leu406fs)
|
rs1597357740
|
|
NM_002615.7(SERPINF1):c.651G>A (p.Trp217Ter)
|
rs1597355244
|
|
NM_004628.5(XPC):c.1643_1644del (p.Val548fs)
|
rs754532049
|
|
NM_004628.5(XPC):c.1894C>T (p.Gln632Ter)
|
rs3731139
|
|
NM_004628.5(XPC):c.2127del (p.Ser711fs)
|
rs1695569595
|
|
NM_004628.5(XPC):c.395_398del (p.Asp132fs)
|
rs1696563531
|
|
NM_004628.5(XPC):c.524_525dup (p.Arg176fs)
|
rs1696466639
|
|
NM_004628.5(XPC):c.669_670del (p.Ile223fs)
|
rs1696343406
|
|
NM_016277.5(RAB23):c.398+1G>A
|
rs2127998616
|
|
NM_017839.5(LPCAT2):c.172-6188G>A
|
rs1567390809
|
|
NM_020919.4(ALS2):c.1054_1061del (p.Leu352fs)
|
rs1574786170
|
|
NM_020919.4(ALS2):c.158_160del (p.Gly53del)
|
rs2106102271
|
|
NM_020919.4(ALS2):c.2417+1G>C
|
rs1275973309
|
|
NM_020919.4(ALS2):c.2580+2T>C
|
rs2106023727
|
|
NM_020919.4(ALS2):c.2713-2A>C
|
rs2106011709
|
|
NM_020919.4(ALS2):c.347G>A (p.Gly116Glu)
|
rs2106089689
|
|
NM_020919.4(ALS2):c.3517delG
|
rs1317051984
|
|
NM_020919.4(ALS2):c.4270C>T (p.Gln1424Ter)
|
rs1689931402
|
|
NM_020919.4(ALS2):c.4832G>A (p.Arg1611Gln)
|
rs1689578912
|
|
NM_022336.4(EDAR):c.204del (p.Tyr69fs)
|
rs1697322263
|
|
NM_030916.3(NECTIN4):c.880C>T (p.Arg294Ter)
|
rs1653335301
|
|
NM_145861.4(EDARADD):c.570C>A (p.Asp190Glu)
|
rs200017138
|
|
NM_145861.4(EDARADD):c.85G>A (p.Glu29Lys)
|
rs1657345576
|
|