NM_007194.4(CHEK2):c.319+2T>A
|
rs587782401
|
0.00009
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_004752.4(GCM2):c.187G>A (p.Gly63Ser)
|
rs104893960
|
0.00003
|
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter)
|
rs1344509500
|
0.00003
|
NM_005373.3(MPL):c.460T>C (p.Trp154Arg)
|
rs758428763
|
0.00002
|
NM_207122.2(EXT2):c.1506G>A (p.Trp502Ter)
|
rs753973135
|
0.00002
|
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser)
|
rs140022350
|
0.00001
|
NM_005373.3(MPL):c.1431G>A (p.Trp477Ter)
|
rs1169744090
|
0.00001
|
NM_005373.3(MPL):c.1566-1G>A
|
rs1570474015
|
0.00001
|
NM_005373.3(MPL):c.981-1G>C
|
rs769297582
|
0.00001
|
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)
|
rs183431253
|
0.00001
|
NM_000388.4(CASR):c.2449G>A (p.Val817Ile)
|
rs1057518933
|
|
NM_000388.4(CASR):c.2506G>T (p.Val836Leu)
|
rs2107650629
|
|
NM_000388.4(CASR):c.379G>A (p.Glu127Lys)
|
rs2074565202
|
|
NM_000388.4(CASR):c.413C>T (p.Thr138Met)
|
rs121909263
|
|
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys)
|
rs2074624616
|
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
rs28934573
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro)
|
rs137854563
|
|
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg)
|
rs199474746
|
|
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro)
|
rs199474786
|
|
NM_001042492.3(NF1):c.3198-2A>G
|
rs1131691089
|
|
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile)
|
rs1064794277
|
|
NM_001042492.3(NF1):c.4070del (p.Phe1357fs)
|
rs1555617354
|
|
NM_001042492.3(NF1):c.4406_4418del (p.Lys1469fs)
|
rs1567862349
|
|
NM_001042492.3(NF1):c.4725-1G>A
|
rs1555619391
|
|
NM_001042492.3(NF1):c.4760del (p.Ala1586_Leu1587insTer)
|
rs2151470108
|
|
NM_001042492.3(NF1):c.4980dup (p.Lys1661Ter)
|
rs2069329774
|
|
NM_001042492.3(NF1):c.6819+3del
|
rs2069728377
|
|
NM_001042492.3(NF1):c.7971-321C>G
|
rs2070316606
|
|
NM_001754.5(RUNX1):c.292del (p.Leu98fs)
|
rs1569084170
|
|
NM_001754.5(RUNX1):c.508+2T>C
|
rs1601515707
|
|
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr)
|
rs397507539
|
|
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His)
|
rs397507540
|
|
NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter)
|
rs2038154558
|
|
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)
|
rs397507527
|
|
NM_005188.4(CBL):c.1096-1G>C
|
rs397517076
|
|
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)
|
rs750046020
|
|
NM_007194.4(CHEK2):c.684-2A>G
|
rs2053419665
|
|
NM_007194.4(CHEK2):c.793-1G>A
|
rs730881687
|
|
NM_022124.6(CDH23):c.1143_1176del
|
rs764949139
|
|
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT
|
rs1589384283
|
|
NM_198253.3(TERT):c.336dup (p.Glu113fs)
|
rs1060502990
|
|