NM_006912.6(RIT1):c.104G>C (p.Ser35Thr)
|
rs869025189
|
0.00001
|
NM_006912.6(RIT1):c.251C>T (p.Ala84Val)
|
rs869025196
|
0.00001
|
NM_152594.3(SPRED1):c.304dup (p.Thr102fs)
|
rs1555391053
|
0.00001
|
NM_152594.3(SPRED1):c.46C>T (p.Arg16Ter)
|
rs1057517941
|
0.00001
|
NM_152594.3(SPRED1):c.70C>T (p.Arg24Ter)
|
rs121434313
|
0.00001
|
NM_152594.3(SPRED1):c.751C>T (p.Arg251Ter)
|
rs1172820756
|
0.00001
|
NC_000015.10:g.(?_38253166)_(39021201_?)del
|
|
|
NC_000015.10:g.(?_38253180)_(38351670_?)del
|
|
|
NC_000015.10:g.(?_38253186)_(38253227_?)del
|
|
|
NC_000015.10:g.(?_38299363)_(38324819_?)del
|
|
|
NC_000015.10:g.(?_38299373)_(38357249_?)del
|
|
|
NC_000015.9:g.(?_38545367)_(38545438_?)del
|
|
|
NC_000015.9:g.(?_38545387)_(38545438_?)del
|
|
|
NC_000015.9:g.(?_38545387)_(38643865_?)del
|
|
|
NC_000015.9:g.(?_38591568)_(38643870_?)del
|
|
|
NC_000015.9:g.(?_38614422)_(38617030_?)del
|
|
|
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile)
|
rs121917758
|
|
NM_005343.4(HRAS):c.179G>A (p.Gly60Asp)
|
rs730880460
|
|
NM_005343.4(HRAS):c.186_206dup (p.Glu62_Arg68dup)
|
rs1554884966
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)
|
rs104894229
|
|
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp)
|
rs104894230
|
|
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)
|
rs104894230
|
|
NM_005343.4(HRAS):c.35_36delinsTT (p.Gly12Val)
|
rs727503094
|
|
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)
|
rs104894228
|
|
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp)
|
rs104894226
|
|
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)
|
rs672601334
|
|
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr)
|
rs869025191
|
|
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro)
|
rs869025191
|
|
NM_006912.6(RIT1):c.229G>T (p.Ala77Ser)
|
rs869025191
|
|
NM_006912.6(RIT1):c.230C>G (p.Ala77Gly)
|
rs1673399238
|
|
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)
|
rs869025193
|
|
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile)
|
rs869025194
|
|
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu)
|
rs869025194
|
|
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)
|
rs869025194
|
|
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu)
|
rs730881014
|
|
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)
|
rs730881014
|
|
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro)
|
rs869025195
|
|
NM_006912.6(RIT1):c.259G>C (p.Asp87His)
|
rs886041414
|
|
NM_006912.6(RIT1):c.265T>C (p.Tyr89His)
|
rs869025197
|
|
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
|
|
|
NM_006912.6(RIT1):c.270G>A (p.Met90Ile)
|
rs483352822
|
|
NM_006912.6(RIT1):c.270G>C (p.Met90Ile)
|
rs483352822
|
|
NM_006912.6(RIT1):c.270G>T (p.Met90Ile)
|
rs483352822
|
|
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)
|
rs672601335
|
|
NM_006912.6(RIT1):c.365G>T (p.Arg122Leu)
|
rs777520196
|
|
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln)
|
rs869312687
|
|
NM_006912.6(RIT1):c.69A>C (p.Lys23Asn)
|
rs1557962794
|
|
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser)
|
rs869320687
|
|
NM_006939.4(SOS2):c.1291G>A (p.Glu431Lys)
|
|
|
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
|
|
|
NM_006939.4(SOS2):c.800T>A (p.Met267Lys)
|
rs797045167
|
|
NM_006939.4(SOS2):c.800T>C (p.Met267Thr)
|
rs797045167
|
|
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
|
|
|
NM_152594.3(SPRED1):c.1011C>A (p.Tyr337Ter)
|
rs2141016437
|
|
NM_152594.3(SPRED1):c.1015C>T (p.Gln339Ter)
|
rs1566876895
|
|
NM_152594.3(SPRED1):c.1035_1047del (p.Gly350fs)
|
|
|
NM_152594.3(SPRED1):c.1043_1044insCAGGGGAAAATGT (p.Cys352_Gln353insTer)
|
|
|
NM_152594.3(SPRED1):c.1044_1046delinsC (p.Arg349fs)
|
rs1566876929
|
|
NM_152594.3(SPRED1):c.1044_1056del (p.Gly350fs)
|
rs2141016462
|
|
NM_152594.3(SPRED1):c.1053del (p.Lys351fs)
|
rs1566876954
|
|
NM_152594.3(SPRED1):c.1073del (p.Pro358fs)
|
|
|
NM_152594.3(SPRED1):c.1091_1106del (p.Tyr364fs)
|
|
|
NM_152594.3(SPRED1):c.1099_1102del (p.Ser367fs)
|
rs1555392783
|
|
NM_152594.3(SPRED1):c.1117G>T (p.Glu373Ter)
|
|
|
NM_152594.3(SPRED1):c.1132_1139del (p.His378fs)
|
rs2141016553
|
|
NM_152594.3(SPRED1):c.1142C>G (p.Ser381Ter)
|
|
|
NM_152594.3(SPRED1):c.1142del (p.Met380_Ser381insTer)
|
|
|
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs)
|
rs1595763925
|
|
NM_152594.3(SPRED1):c.1151_1152del (p.Glu384fs)
|
rs878855228
|
|
NM_152594.3(SPRED1):c.1151del (p.Glu384fs)
|
rs1595763928
|
|
NM_152594.3(SPRED1):c.1175C>A (p.Ser392Ter)
|
rs1345810751
|
|
NM_152594.3(SPRED1):c.1207C>T (p.Arg403Ter)
|
|
|
NM_152594.3(SPRED1):c.1211G>A (p.Trp404Ter)
|
|
|
NM_152594.3(SPRED1):c.1224del (p.Ala409fs)
|
|
|
NM_152594.3(SPRED1):c.1232_1241del (p.Ser411fs)
|
rs2141016685
|
|
NM_152594.3(SPRED1):c.1235dup (p.Ile413fs)
|
|
|
NM_152594.3(SPRED1):c.1237_1238del (p.Ile413fs)
|
rs2141016692
|
|
NM_152594.3(SPRED1):c.148C>T (p.Gln50Ter)
|
rs148646547
|
|
NM_152594.3(SPRED1):c.177del (p.Phe59fs)
|
|
|
NM_152594.3(SPRED1):c.177dup (p.Ile60fs)
|
rs1895110802
|
|
NM_152594.3(SPRED1):c.190C>T (p.Arg64Ter)
|
rs121434315
|
|
NM_152594.3(SPRED1):c.229A>T (p.Lys77Ter)
|
rs727504170
|
|
NM_152594.3(SPRED1):c.234dup (p.Asp79fs)
|
rs1566867209
|
|
NM_152594.3(SPRED1):c.272del (p.His91fs)
|
|
|
NM_152594.3(SPRED1):c.291del (p.Lys98fs)
|
|
|
NM_152594.3(SPRED1):c.301_307del (p.Leu101fs)
|
rs1566867246
|
|
NM_152594.3(SPRED1):c.305C>G (p.Thr102Arg)
|
rs754706111
|
|
NM_152594.3(SPRED1):c.305del (p.Thr102fs)
|
rs2140994872
|
|
NM_152594.3(SPRED1):c.306_307dup (p.Phe103fs)
|
rs1595746834
|
|
NM_152594.3(SPRED1):c.326_329dup (p.Arg110delinsSerTer)
|
rs1595746858
|
|
NM_152594.3(SPRED1):c.328del (p.Arg110fs)
|
|
|
NM_152594.3(SPRED1):c.342_343del (p.Gly115fs)
|
rs1555391061
|
|
NM_152594.3(SPRED1):c.342_349dup (p.Arg117fs)
|
|
|
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter)
|
rs121434312
|
|
NM_152594.3(SPRED1):c.355dup (p.Ala119fs)
|
rs1895621783
|
|
NM_152594.3(SPRED1):c.384dup (p.Glu129fs)
|
rs1566868022
|
|
NM_152594.3(SPRED1):c.385G>T (p.Glu129Ter)
|
rs764823722
|
|
NM_152594.3(SPRED1):c.395dup (p.Asn132fs)
|
rs1895677481
|
|
NM_152594.3(SPRED1):c.3G>A (p.Met1Ile)
|
rs1324903101
|
|
NM_152594.3(SPRED1):c.408_409dup (p.Ala137fs)
|
|
|
NM_152594.3(SPRED1):c.40del (p.Tyr14fs)
|
rs2140978331
|
|
NM_152594.3(SPRED1):c.421C>T (p.Gln141Ter)
|
rs1060502505
|
|
NM_152594.3(SPRED1):c.42T>G (p.Tyr14Ter)
|
|
|
NM_152594.3(SPRED1):c.461del (p.Asp154fs)
|
|
|
NM_152594.3(SPRED1):c.490_491dup (p.Ser165fs)
|
|
|
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter)
|
rs750777752
|
|
NM_152594.3(SPRED1):c.565C>T (p.Gln189Ter)
|
|
|
NM_152594.3(SPRED1):c.613C>T (p.Gln205Ter)
|
rs2141014847
|
|
NM_152594.3(SPRED1):c.619A>T (p.Arg207Ter)
|
rs368660900
|
|
NM_152594.3(SPRED1):c.637C>T (p.Gln213Ter)
|
rs121434316
|
|
NM_152594.3(SPRED1):c.676C>T (p.Gln226Ter)
|
rs1555392609
|
|
NM_152594.3(SPRED1):c.684+1G>T
|
|
|
NM_152594.3(SPRED1):c.692del (p.Pro230_Leu231insTer)
|
rs2141016007
|
|
NM_152594.3(SPRED1):c.696del (p.Lys232fs)
|
|
|
NM_152594.3(SPRED1):c.719_725del (p.Gln240fs)
|
|
|
NM_152594.3(SPRED1):c.724G>T (p.Glu242Ter)
|
|
|
NM_152594.3(SPRED1):c.783C>A (p.Tyr261Ter)
|
rs1888473716
|
|
NM_152594.3(SPRED1):c.794dup (p.Asp265fs)
|
rs2141016108
|
|
NM_152594.3(SPRED1):c.796_797del (p.Met266fs)
|
rs864622410
|
|
NM_152594.3(SPRED1):c.800G>A (p.Trp267Ter)
|
rs1595763557
|
|
NM_152594.3(SPRED1):c.841C>T (p.Gln281Ter)
|
rs755557783
|
|
NM_152594.3(SPRED1):c.867dup (p.Ser290fs)
|
|
|
NM_152594.3(SPRED1):c.900dup (p.Lys301Ter)
|
rs1595763656
|
|
NM_152594.3(SPRED1):c.903_906del (p.Leu302fs)
|
rs1595763662
|
|
NM_152594.3(SPRED1):c.906_910del (p.Leu302fs)
|
rs1595763659
|
|
NM_152594.3(SPRED1):c.923_924del (p.Ser308fs)
|
rs1555392759
|
|
NM_152594.3(SPRED1):c.96_97insT (p.Pro33fs)
|
|
|
NM_152594.3(SPRED1):c.973C>T (p.Arg325Ter)
|
rs1057518683
|
|