NM_002555.6(SLC22A18):c.257G>A (p.Arg86His)
|
rs78838117
|
0.00263
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_058172.6(ANTXR2):c.1074del (p.Ala359fs)
|
rs312262693
|
0.00004
|
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys)
|
rs367543286
|
0.00001
|
NM_002609.4(PDGFRB):c.1978C>A (p.Pro660Thr)
|
rs144050370
|
0.00001
|
APC, 1-BP DEL, 3720T
|
|
|
APC, 2-BP INS, CODON 1924
|
|
|
APC, 4-BP DEL, 7929TCTA
|
|
|
NM_000038.5(APC):c.4575_4576insAlu1
|
|
|
NM_000038.6(APC):c.5826_5829del (p.Asp1942fs)
|
rs864622228
|
|
NM_000368.5(TSC1):c.495C>A (p.Cys165Ter)
|
rs118203388
|
|
NM_000435.3(NOTCH3):c.4556T>C (p.Leu1519Pro)
|
rs367543285
|
|
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter)
|
rs45517148
|
|
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)
|
rs28934872
|
|
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala)
|
rs121913412
|
|
NM_003072.5(SMARCA4):c.2617-3C>G
|
rs587777463
|
|
NM_003072.5(SMARCA4):c.3239G>A (p.Gly1080Asp)
|
rs587777464
|
|
NM_003072.5(SMARCA4):c.3533G>A (p.Trp1178Ter)
|
rs587777460
|
|
NM_003072.5(SMARCA4):c.3565C>T (p.Arg1189Ter)
|
rs267607070
|
|
NM_003072.5(SMARCA4):c.4170+1G>A
|
rs587777461
|
|
NM_003072.5(SMARCA4):c.643C>T (p.Gln215Ter)
|
rs587777462
|
|
NM_003073.5(SMARCB1):c.591del (p.Gln198fs)
|
rs587776678
|
|
NM_003073.5(SMARCB1):c.629-361_795+2103dup
|
|
|
NM_003073.5(SMARCB1):c.986+1G>A
|
rs112038099
|
|
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter)
|
rs104894903
|
|
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val)
|
rs104894909
|
|
NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter)
|
rs104894905
|
|
NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro)
|
rs104894904
|
|
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser)
|
rs104894901
|
|
NM_015922.3(NSDHL):c.628C>T (p.Gln210Ter)
|
rs104894902
|
|
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys)
|
rs779707422
|
|
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu)
|
rs869320694
|
|
NM_058172.6(ANTXR2):c.1073dup (p.Ala359fs)
|
rs312262690
|
|
NM_058172.6(ANTXR2):c.1142A>G (p.Tyr381Cys)
|
rs137852901
|
|
NM_058172.6(ANTXR2):c.1179G>A (p.Glu393=)
|
rs546102223
|
|
NM_058172.6(ANTXR2):c.314G>A (p.Gly105Asp)
|
rs137852902
|
|
NM_058172.6(ANTXR2):c.566T>C (p.Ile189Thr)
|
rs137852905
|
|
NM_058172.6(ANTXR2):c.658G>T (p.Glu220Ter)
|
rs137852904
|
|
NM_058172.6(ANTXR2):c.986T>G (p.Leu329Arg)
|
rs137852903
|
|
NM_177438.3(DICER1):c.3611_3616delinsT (p.Tyr1204fs)
|
rs886037651
|
|
NM_177438.3(DICER1):c.3907_3908del (p.Leu1303fs)
|
rs886037650
|
|
PDGFB, PDGFB/COL1A1 FUSION
|
|
|