|
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)
|
rs145303331
|
0.00062
|
|
NR_003051.4(RMRP):n.6C>T
|
rs772443941
|
0.00016
|
|
NM_147127.5(EVC2):c.530C>T (p.Ser177Leu)
|
rs145758016
|
0.00008
|
|
NM_000400.4(ERCC2):c.442C>T (p.His148Tyr)
|
rs201382232
|
0.00004
|
|
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter)
|
rs398123017
|
0.00003
|
|
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)
|
rs121908425
|
0.00003
|
|
NM_001399.5(EDA):c.463C>T (p.Arg155Cys)
|
rs132630312
|
0.00002
|
|
NM_001283009.2(RTEL1):c.1648C>T (p.Arg550Cys)
|
rs369419645
|
0.00001
|
|
NM_001605.3(AARS1):c.1007A>G (p.His336Arg)
|
rs1025002934
|
0.00001
|
|
NM_001605.3(AARS1):c.1664G>T (p.Ser555Ile)
|
rs144982168
|
0.00001
|
|
NM_003722.5(TP63):c.727C>T (p.Arg243Trp)
|
rs121908835
|
0.00001
|
|
NM_198253.3(TERT):c.2431C>T (p.Arg811Cys)
|
rs199422301
|
0.00001
|
|
NR_003051.4(RMRP):n.232C>T
|
rs762145032
|
0.00001
|
|
NR_003051.4(RMRP):n.42G>A
|
rs1156413585
|
0.00001
|
|
NM_000165.5(GJA1):c.416T>A (p.Ile139Asn)
|
rs2114283459
|
|
|
NM_001085458.2(CTNND1):c.2233G>T (p.Glu745Ter)
|
rs2137392998
|
|
|
NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys)
|
rs121918545
|
|
|
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val)
|
rs28937872
|
|
|
NM_001283009.2(RTEL1):c.2141+5G>A
|
rs398123050
|
|
|
NM_001283009.2(RTEL1):c.3807G>C (p.Trp1269Cys)
|
rs2145481109
|
|
|
NM_001363.5(DKC1):c.1225C>T (p.Pro409Ser)
|
rs2148516431
|
|
|
NM_001363.5(DKC1):c.253G>A (p.Asp85Asn)
|
rs2148509772
|
|
|
NM_001363.5(DKC1):c.5C>T (p.Ala2Val)
|
rs121912303
|
|
|
NM_001399.5(EDA):c.1174T>C (p.Ter392Gln)
|
rs2147519482
|
|
|
NM_001399.5(EDA):c.11del (p.Pro4fs)
|
rs1602221405
|
|
|
NM_001399.5(EDA):c.457C>T (p.Arg153Cys)
|
rs397516662
|
|
|
NM_001399.5(EDA):c.466C>T (p.Arg156Cys)
|
rs132630313
|
|
|
NM_001399.5(EDA):c.52_53insTGCGA (p.Arg18fs)
|
|
|
|
NM_001814.6(CTSC):c.526A>T (p.Lys176Ter)
|
|
|
|
NM_001854.4(COL11A1):c.2344_2352del (p.Glu782_Gly784del)
|
rs2101750401
|
|
|
NM_001854.4(COL11A1):c.4591G>C (p.Gly1531Arg)
|
|
|
|
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)
|
rs727504317
|
|
|
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)
|
rs121908595
|
|
|
NM_002755.4(MAP2K1):c.767T>C (p.Met256Thr)
|
|
|
|
NM_004278.4(PIGL):c.154_161del (p.Asp52fs)
|
rs2142610073
|
|
|
NM_004278.4(PIGL):c.262C>G (p.Arg88Gly)
|
rs1064795400
|
|
|
NM_004333.6(BRAF):c.1391G>C (p.Gly464Ala)
|
rs121913348
|
|
|
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val)
|
rs121913348
|
|
|
NM_004333.6(BRAF):c.1442C>A (p.Ala481Glu)
|
rs397516892
|
|
|
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu)
|
rs180177037
|
|
|
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)
|
rs180177039
|
|
|
NM_004333.6(BRAF):c.1502A>T (p.Glu501Val)
|
rs180177039
|
|
|
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg)
|
rs180177041
|
|
|
NM_004333.6(BRAF):c.1722C>G (p.His574Gln)
|
rs397507481
|
|
|
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp)
|
rs180177040
|
|
|
NM_004333.6(BRAF):c.1796C>G (p.Thr599Arg)
|
rs121913375
|
|
|
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile)
|
rs397507484
|
|
|
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg)
|
rs104894359
|
|
|
NM_015559.3(SETBP1):c.1955_1956dup (p.Gly653fs)
|
|
|
|
NM_015559.3(SETBP1):c.2322A>G (p.Ala774=)
|
rs2145104146
|
|
|
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser)
|
rs267607040
|
|
|
NM_022336.4(EDAR):c.1073G>A (p.Arg358Gln)
|
rs886039564
|
|
|
NM_022336.4(EDAR):c.719_722del (p.Lys240fs)
|
rs797044436
|
|
|
NM_030662.4(MAP2K2):c.1198G>T (p.Val400Leu)
|
|
|
|
NM_030662.4(MAP2K2):c.167C>A (p.Ala56Asp)
|
|
|
|
NM_030662.4(MAP2K2):c.183A>C (p.Lys61Asn)
|
rs886041310
|
|
|
NM_032208.3(ANTXR1):c.561+6G>A
|
|
|
|
NM_144991.3(TSPEAR):c.1785AGA[1] (p.Glu596del)
|
|
|
|
NM_145861.4(EDARADD):c.359A>C (p.Asp120Ala)
|
rs2103042605
|
|
|
NR_003051.3(RMRP):n.5_6insTACTCTGTGAAGCTGAGGACGTGGTTC
|
rs1554651349
|
|