|
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)
|
rs121918459
|
0.00001
|
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
|
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)
|
rs1223430276
|
0.00001
|
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
|
NM_000214.3(JAG1):c.2406del (p.Trp803fs)
|
|
|
|
NM_001371623.1(TCOF1):c.158G>A (p.Trp53Ter)
|
|
|
|
NM_001371623.1(TCOF1):c.3183G>C (p.Gln1061His)
|
|
|
|
NM_001371623.1(TCOF1):c.3711del (p.Ala1238fs)
|
rs2151060309
|
|
|
NM_001371623.1(TCOF1):c.3754del (p.Gln1252fs)
|
|
|
|
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs)
|
rs587776582
|
|
|
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter)
|
rs587783747
|
|
|
NM_002470.4(MYH3):c.2096T>A (p.Val699Asp)
|
|
|
|
NM_002524.5(NRAS):c.173C>T (p.Thr58Ile)
|
rs2101742052
|
|
|
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr)
|
rs121918468
|
|
|
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)
|
rs397507547
|
|
|
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)
|
rs121918461
|
|
|
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu)
|
rs397507512
|
|
|
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)
|
rs121918454
|
|
|
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp)
|
rs397507514
|
|
|
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)
|
rs121918455
|
|
|
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)
|
rs80338796
|
|
|
NM_002880.4(RAF1):c.781C>A (p.Pro261Thr)
|
rs121434594
|
|
|
NM_004333.6(BRAF):c.1502A>T (p.Glu501Val)
|
rs180177039
|
|
|
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp)
|
rs180177040
|
|
|
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)
|
rs387906660
|
|
|
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro)
|
rs180177034
|
|
|
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)
|
rs180177035
|
|
|
NM_004629.2(FANCG):c.179del (p.Leu60fs)
|
rs1829130643
|
|
|
NM_004629.2(FANCG):c.637_643del (p.Tyr213fs)
|
rs587776640
|
|
|
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro)
|
rs397517153
|
|
|
NM_005633.4(SOS1):c.806T>C (p.Met269Thr)
|
rs137852813
|
|
|
NM_006767.4(LZTR1):c.690C>G (p.Asn230Lys)
|
|
|
|
NM_006767.4(LZTR1):c.730T>C (p.Ser244Pro)
|
rs1601718760
|
|
|
NM_006941.4(SOX10):c.400C>T (p.Leu134Phe)
|
|
|
|
NM_015972.4(POLR1D):c.261del (p.Gly88fs)
|
rs2138519077
|
|
|
NM_017780.4(CHD7):c.1931del (p.Lys644fs)
|
rs2150669764
|
|
|
NM_017780.4(CHD7):c.232C>T (p.Gln78Ter)
|
rs2150577671
|
|
|
NM_017780.4(CHD7):c.2544del (p.Asp849fs)
|
|
|
|
NM_017780.4(CHD7):c.3309_3310del (p.Val1103_Ile1104insTer)
|
rs2150752540
|
|
|
NM_017780.4(CHD7):c.5894+1G>T
|
|
|
|
NM_017780.4(CHD7):c.643C>T (p.Gln215Ter)
|
rs2150578812
|
|
|
NM_022455.5(NSD1):c.4823dup (p.Pro1609fs)
|
|
|
|
NM_022455.5(NSD1):c.4913A>G (p.His1638Arg)
|
|
|
|
NM_030662.4(MAP2K2):c.169T>G (p.Phe57Val)
|
rs121434498
|
|
|
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs)
|
rs398124465
|
|
|
NM_133433.4(NIPBL):c.302_311del (p.Ala101fs)
|
rs2149602979
|
|
|
NM_133433.4(NIPBL):c.3932G>A (p.Cys1311Tyr)
|
rs2149676839
|
|
|
NM_133433.4(NIPBL):c.5465A>G (p.Asp1822Gly)
|
rs587783977
|
|
|
NM_133433.4(NIPBL):c.5639_5642del (p.Pro1880fs)
|
rs2149702380
|
|
|
NM_133433.4(NIPBL):c.6027_6030del (p.Leu2009fs)
|
rs2149721417
|
|
|
NM_133433.4(NIPBL):c.6955-2A>C
|
rs2149741447
|
|
|
NM_133433.4(NIPBL):c.7834dup (p.Arg2612fs)
|
rs2149755630
|
|
|
NM_133433.4:c.1480_2479del
|
|
|
|
NM_181458.4(PAX3):c.602C>A (p.Ser201Ter)
|
|
|