NM_182925.5(FLT4):c.2860C>T (p.Pro954Ser)
|
rs34255532
|
0.00275
|
NM_002253.4(KDR):c.3439C>T (p.Pro1147Ser)
|
rs121917766
|
0.00003
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_000492.4(CFTR):c.2490+2T>C
|
rs1057516216
|
0.00001
|
NM_000546.6(TP53):c.1010G>A (p.Arg337His)
|
rs121912664
|
0.00001
|
NM_000546.6(TP53):c.374C>T (p.Thr125Met)
|
rs786201057
|
0.00001
|
NM_000546.6(TP53):c.375G>A (p.Thr125=)
|
rs55863639
|
0.00001
|
NM_000546.6(TP53):c.455C>T (p.Pro152Leu)
|
rs587782705
|
0.00001
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
rs587782144
|
0.00001
|
NM_000546.6(TP53):c.524G>A (p.Arg175His)
|
rs28934578
|
0.00001
|
NM_000546.6(TP53):c.535C>T (p.His179Tyr)
|
rs587780070
|
0.00001
|
NM_000546.6(TP53):c.541C>T (p.Arg181Cys)
|
rs587782596
|
0.00001
|
NM_000546.6(TP53):c.560-1G>A
|
rs1202793339
|
0.00001
|
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)
|
rs121912666
|
0.00001
|
NM_000546.6(TP53):c.711G>A (p.Met237Ile)
|
rs587782664
|
0.00001
|
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)
|
rs730882005
|
0.00001
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)
|
rs121913343
|
0.00001
|
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)
|
rs863224451
|
0.00001
|
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)
|
rs121913529
|
0.00001
|
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)
|
rs121913499
|
0.00001
|
NM_133171.5(ELMO2):c.1065+1G>A
|
rs768410753
|
0.00001
|
46;XY;inv(6)(p22q13)dn
|
|
|
46;XY;t(7;13)(p15.3;q14.1)dn
|
|
|
NM_000314.8(PTEN):c.675T>G (p.Tyr225Ter)
|
rs1057520900
|
|
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)
|
rs118203682
|
|
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)
|
rs587782529
|
|
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)
|
rs730882029
|
|
NM_000546.6(TP53):c.158G>A (p.Trp53Ter)
|
rs876658483
|
|
NM_000546.6(TP53):c.159G>A (p.Trp53Ter)
|
rs1064794618
|
|
NM_000546.6(TP53):c.272G>A (p.Trp91Ter)
|
rs2073465664
|
|
NM_000546.6(TP53):c.329G>C (p.Arg110Pro)
|
rs11540654
|
|
NM_000546.6(TP53):c.375G>C (p.Thr125=)
|
rs55863639
|
|
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter)
|
rs1567554500
|
|
NM_000546.6(TP53):c.389T>C (p.Leu130Pro)
|
rs1131691013
|
|
NM_000546.6(TP53):c.406C>T (p.Gln136Ter)
|
|
|
NM_000546.6(TP53):c.448_460del (p.Thr150fs)
|
rs1064792930
|
|
NM_000546.6(TP53):c.475_481dup (p.Ala161fs)
|
rs863223301
|
|
NM_000546.6(TP53):c.499C>T (p.Gln167Ter)
|
rs1555526097
|
|
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)
|
rs786202962
|
|
NM_000546.6(TP53):c.532del (p.His178fs)
|
rs786202525
|
|
NM_000546.6(TP53):c.559+1G>A
|
rs1131691042
|
|
NM_000546.6(TP53):c.578A>G (p.His193Arg)
|
rs786201838
|
|
NM_000546.6(TP53):c.584T>C (p.Ile195Thr)
|
rs760043106
|
|
NM_000546.6(TP53):c.586C>T (p.Arg196Ter)
|
rs397516435
|
|
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)
|
rs587778720
|
|
NM_000546.6(TP53):c.672+1G>A
|
rs863224499
|
|
NM_000546.6(TP53):c.72dup (p.Leu25fs)
|
rs2151047224
|
|
NM_000546.6(TP53):c.730G>A (p.Gly244Ser)
|
rs1057519989
|
|
NM_000546.6(TP53):c.734G>A (p.Gly245Asp)
|
rs121912656
|
|
NM_000546.6(TP53):c.734G>T (p.Gly245Val)
|
rs121912656
|
|
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
|
rs121912651
|
|
NM_000546.6(TP53):c.745A>T (p.Arg249Trp)
|
rs587782082
|
|
NM_000546.6(TP53):c.799C>G (p.Arg267Gly)
|
|
|
NM_000546.6(TP53):c.817C>G (p.Arg273Gly)
|
rs121913343
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>T (p.Arg273Leu)
|
rs28934576
|
|
NM_000546.6(TP53):c.838A>G (p.Arg280Gly)
|
rs753660142
|
|
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)
|
rs730882008
|
|
NM_000546.6(TP53):c.854A>T (p.Glu285Val)
|
rs121912667
|
|
NM_000546.6(TP53):c.96+1G>T
|
rs1131691003
|
|
NM_000546.6(TP53):c.97-11C>G
|
rs769697802
|
|
NM_000551.4(VHL):c.194C>T (p.Ser65Leu)
|
rs5030826
|
|
NM_000551.4(VHL):c.530_536del (p.Arg177fs)
|
rs1575932266
|
|
NM_000969.5(RPL5):c.74-1G>C
|
rs1553284997
|
|
NM_001114753.3(ENG):c.920dup (p.Asn307fs)
|
rs1554810174
|
|
NM_001243133.2(NLRP3):c.29G>T (p.Arg10Met)
|
rs2103083622
|
|
NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter)
|
rs797045283
|
|
NM_002060.3(GJA4):c.121G>T (p.Gly41Cys)
|
rs1640240555
|
|
NM_002401.5(MAP3K3):c.1323C>G (p.Ile441Met)
|
rs2143631386
|
|
NM_002734.5(PRKAR1A):c.618_621del (p.Ile206fs)
|
rs281864791
|
|
NM_002734.5(PRKAR1A):c.709-7_709-2del
|
rs281864801
|
|
NM_002890.3(RASA1):c.1657dup (p.Tyr553fs)
|
rs2112474795
|
|
NM_002890.3(RASA1):c.475_476del (p.Leu159fs)
|
rs797044451
|
|
NM_003002.4(SDHD):c.1A>G (p.Met1Val)
|
rs104894307
|
|
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
|
rs113488022
|
|
NM_004333.6(BRAF):c.1906C>T (p.Gln636Ter)
|
rs1585998247
|
|
NM_004444.5(EPHB4):c.2600T>C (p.Phe867Ser)
|
rs2116413948
|
|
NM_004985.5(KRAS):c.183A>T (p.Gln61His)
|
rs17851045
|
|
NM_004985.5(KRAS):c.34G>C (p.Gly12Arg)
|
rs121913530
|
|
NM_004985.5(KRAS):c.35G>T (p.Gly12Val)
|
rs121913529
|
|
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)
|
rs104894360
|
|
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)
|
rs727503110
|
|
NM_005343.4(HRAS):c.172_177delinsGTCCTGGATGTT (p.Thr58_Ala59delinsValLeuAspVal)
|
rs1589792836
|
|
NM_005401.5(PTPN14):c.401_402insTT (p.Leu135fs)
|
rs1558092113
|
|
NM_005401.5(PTPN14):c.581+60_669+877del
|
|
|
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)
|
rs397517148
|
|
NM_006513.4(SARS1):c.971T>C (p.Ile324Thr)
|
rs1553178399
|
|
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)
|
rs869320686
|
|
NM_014319.5(LEMD3):c.2639C>G (p.Thr880Ser)
|
rs1555196298
|
|
NM_031220.4(PITPNM3):c.274C>T (p.Arg92Ter)
|
rs1555556099
|
|
NM_031443.4(CCM2):c.354C>G (p.Tyr118Ter)
|
rs765548101
|
|
NM_053274.3(GLMN):c.108C>A (p.Cys36Ter)
|
rs770780171
|
|
NM_133171.5(ELMO2):c.1065+1G>T
|
|
|
NM_133171.5(ELMO2):c.1802-1G>C
|
rs886037918
|
|
NM_133171.5(ELMO2):c.2080del (p.Leu694fs)
|
rs886037919
|
|
NM_133171.5(ELMO2):c.311dup (p.Met104fs)
|
rs2145827538
|
|
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter)
|
rs1554527169
|
|
t(6;9)(q23.3;p22.3)
|
|
|
t(8;9)(q13.1;p22.3)
|
|
|