ClinVar Miner

List of variants studied for Noonan syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 602
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HGVS dbSNP
NM_001354689.3(RAF1):c.*729AACA[4] rs371820097
NM_001354689.3(RAF1):c.*729AACA[6] rs371820097
NM_001354689.3(RAF1):c.1139T>C (p.Phe380Ser)
NM_001354689.3(RAF1):c.1142G>C (p.Gly381Ala) rs397516813
NM_001354689.3(RAF1):c.1168+9_1168+21del rs727504451
NM_001354689.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_001354689.3(RAF1):c.1232G>T (p.Arg411Met) rs587782972
NM_001354689.3(RAF1):c.1478A>G (p.Asn493Ser)
NM_001354689.3(RAF1):c.1483T>C (p.Phe495Leu) rs730881003
NM_001354689.3(RAF1):c.1492G>A (p.Glu498Lys)
NM_001354689.3(RAF1):c.1517A>G (p.Asp506Gly) rs397516815
NM_001354689.3(RAF1):c.1526T>C (p.Leu509Ser)
NM_001354689.3(RAF1):c.1527G>T (p.Leu509Phe) rs1553610155
NM_001354689.3(RAF1):c.1532C>T (p.Thr511Ile) rs80338799
NM_001354689.3(RAF1):c.176G>A (p.Arg59His) rs1559447623
NM_001354689.3(RAF1):c.1781A>G (p.Tyr594Cys) rs370242565
NM_001354689.3(RAF1):c.1897C>G (p.Leu633Val) rs80338797
NM_001354689.3(RAF1):c.220A>G (p.Asn74Asp)
NM_001354689.3(RAF1):c.226A>G (p.Met76Val) rs730880999
NM_001354689.3(RAF1):c.285C>G (p.Cys95Trp) rs727503384
NM_001354689.3(RAF1):c.293T>C (p.Val98Ala) rs763559779
NM_001354689.3(RAF1):c.31A>T (p.Ile11Phe) rs779001930
NM_001354689.3(RAF1):c.321-14dup rs202103447
NM_001354689.3(RAF1):c.445C>T (p.Leu149Phe) rs1559433480
NM_001354689.3(RAF1):c.452T>C (p.Phe151Ser) rs587782971
NM_001354689.3(RAF1):c.505G>C (p.Gly169Arg) rs886039607
NM_001354689.3(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_001354689.3(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_001354689.3(RAF1):c.767G>C (p.Arg256Thr)
NM_001354689.3(RAF1):c.768G>C (p.Arg256Ser) rs397516826
NM_001354689.3(RAF1):c.768G>T (p.Arg256Ser) rs397516826
NM_001354689.3(RAF1):c.769T>C (p.Ser257Pro) rs727505017
NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_001354689.3(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_001354689.3(RAF1):c.775T>C (p.Ser259Pro) rs3730271
NM_001354689.3(RAF1):c.775_778delinsAGGG (p.Ser259_Thr260delinsArgAla)
NM_001354689.3(RAF1):c.776C>A (p.Ser259Tyr) rs397516827
NM_001354689.3(RAF1):c.776C>T (p.Ser259Phe) rs397516827
NM_001354689.3(RAF1):c.781C>A (p.Pro261Thr) rs121434594
NM_001354689.3(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_001354689.3(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_001354689.3(RAF1):c.782C>G (p.Pro261Arg) rs397516828
NM_001354689.3(RAF1):c.782C>T (p.Pro261Leu) rs397516828
NM_001354689.3(RAF1):c.784A>C (p.Asn262His)
NM_001354689.3(RAF1):c.786T>A (p.Asn262Lys) rs397516829
NM_001354689.3(RAF1):c.788T>C (p.Val263Ala) rs397516830
NM_001354689.3(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_001354689.3(RAF1):c.913A>G (p.Ser305Gly) rs150054973
NM_001354689.3(RAF1):c.977C>T (p.Ser326Leu) rs886041231
NM_001374258.1(BRAF):c.101C>T (p.Ala34Val) rs1424449802
NM_001374258.1(BRAF):c.1325C>A (p.Pro442His) rs199927105
NM_001374258.1(BRAF):c.1325C>G (p.Pro442Arg) rs199927105
NM_001374258.1(BRAF):c.1529C>G (p.Thr510Arg) rs397516891
NM_001374258.1(BRAF):c.1575G>T (p.Leu525Phe) rs180177036
NM_001374258.1(BRAF):c.1622A>C (p.Glu541Ala) rs180177039
NM_001374258.1(BRAF):c.1633C>T (p.Leu545Phe) rs397507477
NM_001374258.1(BRAF):c.1819T>G (p.Leu607Val)
NM_001374258.1(BRAF):c.1860T>C (p.Asn620=)
NM_001374258.1(BRAF):c.1916C>T (p.Thr639Ile) rs121913375
NM_001374258.1(BRAF):c.2248-16_2248-15del rs886062015
NM_001374258.1(BRAF):c.2248-27_2248-16delinsTCT rs886062016
NM_001374258.1(BRAF):c.2248-28dup rs60814637
NM_001374258.1(BRAF):c.2248-4del rs886062014
NM_001374258.1(BRAF):c.2248-5del rs373442098
NM_001374258.1(BRAF):c.2248-5dup rs373442098
NM_001374258.1(BRAF):c.2255C>A (p.Ala752Asp) rs727502904
NM_001374258.1(BRAF):c.2281T>G (p.Leu761Val)
NM_001374258.1(BRAF):c.2311C>T (p.Pro771Ser) rs1562931107
NM_001374258.1(BRAF):c.722C>A (p.Thr241Lys) rs387906660
NM_001374258.1(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_001374258.1(BRAF):c.736G>C (p.Ala246Pro) rs180177034
NM_001374258.1(BRAF):c.739T>C (p.Phe247Leu) rs397516903
NM_001374258.1(BRAF):c.741T>G (p.Phe247Leu) rs397509343
NM_001374258.1(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_001374258.1(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_001374258.1(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_001374258.1(BRAF):c.83GCGCCG[1] (p.28GA[1]) rs397507458
NM_001374258.1(BRAF):c.83GCGCCG[4] (p.28GA[4]) rs397507458
NM_001374258.1(BRAF):c.977T>C (p.Ile326Thr) rs368435578
NM_001374258.1(BRAF):c.995C>T (p.Thr332Ile) rs1008080053
NM_002524.4(NRAS):c.-132C>T rs886045109
NM_002524.4(NRAS):c.-179G>C rs886045110
NM_002524.4(NRAS):c.-208T>A rs2273267
NM_002524.4(NRAS):c.-209A>G rs886045111
NM_002524.4(NRAS):c.-242G>C rs886045112
NM_002524.4(NRAS):c.-245C>T rs886045113
NM_002524.5(NRAS):c.*1062_*1063del rs775070295
NM_002524.5(NRAS):c.*2510_*2515del rs549171175
NM_002524.5(NRAS):c.*2965del rs61652108
NM_002524.5(NRAS):c.*935dup rs886045106
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) rs267606921
NM_002524.5(NRAS):c.176C>A (p.Ala59Asp) rs1570874751
NM_002524.5(NRAS):c.204A>T (p.Arg68Ser)
NM_002524.5(NRAS):c.235C>T (p.Leu79Phe)
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.5(NRAS):c.443C>T (p.Thr148Ile)
NM_002524.5(NRAS):c.457G>A (p.Glu153Lys)
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser) rs374061873
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002709.3(PPP1CB):c.31C>G (p.Leu11Val)
NM_002709.3(PPP1CB):c.544A>G (p.Met182Val)
NM_002709.3(PPP1CB):c.545T>A (p.Met182Lys)
NM_002755.4(MAP2K1):c.*148_*149del rs745540522
NM_002755.4(MAP2K1):c.*917del rs886051370
NM_002755.4(MAP2K1):c.*917dup rs886051370
NM_002755.4(MAP2K1):c.-220CG[4] rs141005341
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002755.4(MAP2K1):c.1072C>T (p.His358Tyr) rs1595889532
NM_002755.4(MAP2K1):c.308T>C (p.Ile103Thr)
NM_002755.4(MAP2K1):c.322C>T (p.Arg108Trp) rs1298033161
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002755.4(MAP2K1):c.577C>G (p.Pro193Ala) rs1595884713
NM_002755.4(MAP2K1):c.608A>C (p.Glu203Ala)
NM_002755.4(MAP2K1):c.608A>G (p.Glu203Gly) rs727503996
NM_002755.4(MAP2K1):c.694-12TC[4] rs113913469
NM_002755.4(MAP2K1):c.872G>A (p.Arg291Lys) rs1595886354
NM_002834.3:c.1-140delG
NM_002834.5(PTPN11):c.*1006del rs146940557
NM_002834.5(PTPN11):c.*1157ATG[13] rs80269561
NM_002834.5(PTPN11):c.*1157ATG[14] rs80269561
NM_002834.5(PTPN11):c.*1157ATG[16] rs80269561
NM_002834.5(PTPN11):c.*1157ATG[17] rs80269561
NM_002834.5(PTPN11):c.*2731G>A rs768622106
NM_002834.5(PTPN11):c.*41_*46del rs886048967
NM_002834.5(PTPN11):c.*656del rs886048968
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1277A>C (p.His426Pro) rs727505389
NM_002834.5(PTPN11):c.137+35G>A rs727505387
NM_002834.5(PTPN11):c.1380-14C>G rs193922657
NM_002834.5(PTPN11):c.14+25G>C rs7972574
NM_002834.5(PTPN11):c.14+54C>A rs7973432
NM_002834.5(PTPN11):c.1402A>T (p.Thr468Ser)
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.5(PTPN11):c.1468G>A (p.Val490Ile) rs781083623
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala) rs397507539
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.1496C>T (p.Ser499Phe)
NM_002834.5(PTPN11):c.15-38C>T rs727505378
NM_002834.5(PTPN11):c.15-4del rs1223869705
NM_002834.5(PTPN11):c.1500G>T (p.Gln500His)
NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys) rs397507543
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.1505C>T (p.Ser502Leu) rs397507544
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1529A>T (p.Gln510Leu)
NM_002834.5(PTPN11):c.1530G>T (p.Gln510His) rs397507550
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.5(PTPN11):c.1599+26G>A rs727505390
NM_002834.5(PTPN11):c.1599+33A>G rs727505380
NM_002834.5(PTPN11):c.1600-95C>T rs3741983
NM_002834.5(PTPN11):c.1620C>T (p.His540=) rs587781132
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504
NM_002834.5(PTPN11):c.171G>T (p.Gln57His)
NM_002834.5(PTPN11):c.172A>C (p.Asn58His) rs397507505
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.175_186dup (p.Thr59_Tyr62dup)
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.182A>C (p.Asp61Ala) rs121918461
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.186_188del (p.Tyr63del)
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459
NM_002834.5(PTPN11):c.205G>C (p.Glu69Gln) rs397507511
NM_002834.5(PTPN11):c.206A>T (p.Glu69Val) rs727503380
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro) rs121918453
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.217_218delinsCT (p.Thr73Leu) rs397516802
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.5(PTPN11):c.228G>C (p.Glu76Asp) rs397507514
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) rs397507514
NM_002834.5(PTPN11):c.235C>A (p.Gln79Lys) rs397516803
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914
NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala) rs397507517
NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)
NM_002834.5(PTPN11):c.325T>C (p.Ser109Pro)
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002834.5(PTPN11):c.387A>C (p.Lys129Asn)
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_002834.5(PTPN11):c.395A>C (p.His132Pro)
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.455G>A (p.Arg152His) rs397507521
NM_002834.5(PTPN11):c.487G>A (p.Gly163Ser) rs730880992
NM_002834.5(PTPN11):c.525+12G>C rs41304351
NM_002834.5(PTPN11):c.526-8C>A rs184804143
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp) rs143433437
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.64A>G (p.Thr22Ala)
NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)
NM_002834.5(PTPN11):c.757-69T>C rs150087259
NM_002834.5(PTPN11):c.774G>T (p.Glu258Asp) rs397516809
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe) rs397507525
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys) rs397507527
NM_002834.5(PTPN11):c.827A>G (p.Lys276Arg) rs777603059
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.5(PTPN11):c.854-21C>T rs41279090
NM_002834.5(PTPN11):c.854-30T>C rs144391508
NM_002834.5(PTPN11):c.854-32A>C rs187389813
NM_002834.5(PTPN11):c.854T>A (p.Phe285Tyr) rs121918463
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.854T>G (p.Phe285Cys) rs121918463
NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu) rs397516810
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr) rs121918455
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206
NM_002834.5(PTPN11):c.933+25T>C rs727505386
NM_002834.5(PTPN11):c.940T>C (p.Phe314Leu) rs968167995
NM_002834.5(PTPN11):c.959A>G (p.Asn320Ser) rs1398859175
NM_002880.3(RAF1):c.-339_-338AG[1] rs527774250
NM_002880.3(RAF1):c.-415-1C>G rs61730434
NM_004409.5(DMPK):c.161-189T>C rs752437441
NM_004985.5(KRAS):c.-160A>G rs727503111
NM_004985.5(KRAS):c.101C>T (p.Pro34Leu) rs104894366
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) rs193929331
NM_004985.5(KRAS):c.164T>G (p.Ile55Ser)
NM_004985.5(KRAS):c.173C>T (p.Thr58Ile) rs104894364
NM_004985.5(KRAS):c.182A>G (p.Gln61Arg) rs121913240
NM_004985.5(KRAS):c.198A>G (p.Ala66=) rs200229810
NM_004985.5(KRAS):c.214A>T (p.Met72Leu) rs727504662
NM_004985.5(KRAS):c.221C>T (p.Thr74Ile)
NM_004985.5(KRAS):c.264A>G (p.Lys88=) rs370920665
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_004985.5(KRAS):c.451-5600G>C
NM_004985.5(KRAS):c.451-5642A>C
NM_004985.5(KRAS):c.454G>T (p.Val152Phe) rs397517041
NM_004985.5(KRAS):c.458A>G (p.Asp153Gly) rs104894360
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004985.5(KRAS):c.466T>G (p.Phe156Val) rs397517042
NM_004985.5(KRAS):c.519T>C (p.Asp173=) rs1137282
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_005188.4(CBL):c.1096-1G>C rs397517076
NM_005188.4(CBL):c.1096-1G>T rs397517076
NM_005188.4(CBL):c.1096-4_1096-1del rs397517077
NM_005188.4(CBL):c.1099C>A (p.Gln367Lys) rs727504504
NM_005188.4(CBL):c.1228-2A>G rs727504426
NM_005188.4(CBL):c.2519G>C (p.Cys840Ser) rs376536789
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) rs138272051
NM_005343.4(HRAS):c.374T>C (p.Val125Ala)
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.450+107_450+112dup
NM_005343.4(HRAS):c.451-4C>T rs1589789708
NM_005343.4(HRAS):c.520C>G (p.Pro174Ala) rs397517144
NM_005343.4(HRAS):c.548G>A (p.Ser183Asn)
NM_005633.3:c.213+15C>G
NM_005633.4(SOS1):c.*1090TTTG[1] rs886056016
NM_005633.4(SOS1):c.*1333_*1336dup rs35969619
NM_005633.4(SOS1):c.*1606del rs34248802
NM_005633.4(SOS1):c.*1694del rs767903412
NM_005633.4(SOS1):c.*2048_*2050dup rs761591990
NM_005633.4(SOS1):c.*2063_*2066dup rs886056011
NM_005633.4(SOS1):c.*2208dup rs886056010
NM_005633.4(SOS1):c.*2244_*2245dup rs3832123
NM_005633.4(SOS1):c.*2439del rs377250198
NM_005633.4(SOS1):c.*2503_*2506dup rs886056007
NM_005633.4(SOS1):c.*298C>G rs886056021
NM_005633.4(SOS1):c.*3189_*3192del rs572584074
NM_005633.4(SOS1):c.*3416_*3417del rs200892895
NM_005633.4(SOS1):c.*3566_*3568del rs886056005
NM_005633.4(SOS1):c.*399_*400insCA rs144104838
NM_005633.4(SOS1):c.*696G>A rs886056018
NM_005633.4(SOS1):c.*766del rs533720751
NM_005633.4(SOS1):c.1074+5G>C rs145155424
NM_005633.4(SOS1):c.1132A>G (p.Thr378Ala) rs397517146
NM_005633.4(SOS1):c.1175C>G (p.Ser392Cys)
NM_005633.4(SOS1):c.1203-20T>C rs112906251
NM_005633.4(SOS1):c.1230G>A (p.Gln410=) rs141390073
NM_005633.4(SOS1):c.1250T>C (p.Leu417Pro)
NM_005633.4(SOS1):c.1293_1294delinsGA (p.Trp432Arg) rs1572830693
NM_005633.4(SOS1):c.1294T>C (p.Trp432Arg) rs267607080
NM_005633.4(SOS1):c.1297G>A (p.Glu433Lys) rs397517147
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.4(SOS1):c.1310T>G (p.Ile437Ser) rs397517150
NM_005633.4(SOS1):c.1322G>A (p.Cys441Tyr) rs727504295
NM_005633.4(SOS1):c.1391T>C (p.Phe464Ser)
NM_005633.4(SOS1):c.1403T>C (p.Met468Thr)
NM_005633.4(SOS1):c.1405A>T (p.Ile469Phe)
NM_005633.4(SOS1):c.1422T>A (p.Asn474Lys)
NM_005633.4(SOS1):c.1477A>G (p.Lys493Glu)
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838
NM_005633.4(SOS1):c.1522A>G (p.Asn508Asp)
NM_005633.4(SOS1):c.1528T>C (p.Tyr510His) rs201404055
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005633.4(SOS1):c.1644T>A (p.Ser548Arg) rs730881045
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro) rs397517153
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_005633.4(SOS1):c.1655G>C rs397517154
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.1663G>A (p.Asp555Asn)
NM_005633.4(SOS1):c.1708_1713del (p.Pro570_Ser571del)
NM_005633.4(SOS1):c.1829T>C (p.Ile610Thr) rs776146535
NM_005633.4(SOS1):c.1867T>G (p.Phe623Val) rs727505093
NM_005633.4(SOS1):c.195A>C (p.Arg65=) rs7609455
NM_005633.4(SOS1):c.1989A>C (p.Ile663=) rs587781172
NM_005633.4(SOS1):c.2104T>C (p.Tyr702His) rs727505381
NM_005633.4(SOS1):c.2183A>C (p.Lys728Thr)
NM_005633.4(SOS1):c.2183A>T (p.Lys728Ile) rs397517156
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile) rs142004123
NM_005633.4(SOS1):c.244A>G (p.Ile82Val) rs397517157
NM_005633.4(SOS1):c.2511-13_2511-9del rs727503436
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys) rs397517159
NM_005633.4(SOS1):c.253T>C (p.Trp85Arg) rs730881054
NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys) rs1553353452
NM_005633.4(SOS1):c.2708A>C (p.Glu903Ala)
NM_005633.4(SOS1):c.2791+53C>T rs7577088
NM_005633.4(SOS1):c.280A>G (p.Ile94Val) rs144757941
NM_005633.4(SOS1):c.2964+32T>G rs727505384
NM_005633.4(SOS1):c.3022T>C (p.Tyr1008His) rs397517163
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671
NM_005633.4(SOS1):c.3081+26G>A rs186106971
NM_005633.4(SOS1):c.3081+32A>G rs6723430
NM_005633.4(SOS1):c.3197G>C (p.Ser1066Thr) rs1428068201
NM_005633.4(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_005633.4(SOS1):c.3286T>A (p.Ser1096Thr) rs376722127
NM_005633.4(SOS1):c.3290G>C (p.Ser1097Thr) rs727505379
NM_005633.4(SOS1):c.3347-20T>G rs727505382
NM_005633.4(SOS1):c.335C>G (p.Pro112Arg) rs397517166
NM_005633.4(SOS1):c.3391+7A>G rs201982464
NM_005633.4(SOS1):c.3392G>A (p.Arg1131Lys) rs768113420
NM_005633.4(SOS1):c.3433G>A (p.Asp1145Asn) rs727505383
NM_005633.4(SOS1):c.3697C>A (p.Leu1233Ile) rs777373438
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734
NM_005633.4(SOS1):c.3836C>T (p.Thr1279Ile) rs758258471
NM_005633.4(SOS1):c.38A>G (p.Glu13Gly)
NM_005633.4(SOS1):c.396A>T (p.Ala132=) rs727505385
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005633.4(SOS1):c.512T>C (p.Val171Ala) rs397517174
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241
NM_005633.4(SOS1):c.608A>G (p.Asp203Gly)
NM_005633.4(SOS1):c.698A>G (p.Asn233Ser) rs144934321
NM_005633.4(SOS1):c.720+25C>G rs997344
NM_005633.4(SOS1):c.749T>C (p.Val250Ala) rs139290271
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_005633.4(SOS1):c.797_799del (p.Thr266_Val267delinsIle)
NM_005633.4(SOS1):c.805A>G (p.Met269Val)
NM_005633.4(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_005633.4(SOS1):c.806T>G (p.Met269Arg) rs137852813
NM_005633.4(SOS1):c.809C>G (p.Thr270Arg)
NM_005633.4(SOS1):c.836T>C (p.Val279Ala)
NM_005633.4(SOS1):c.925G>T (p.Asp309Tyr) rs397517180
NM_006270.5(RRAS):c.11G>C (p.Gly4Ala)
NM_006270.5(RRAS):c.145T>C (p.Phe49Leu) rs151014532
NM_006270.5(RRAS):c.147C>A (p.Phe49Leu)
NM_006270.5(RRAS):c.154-4C>G rs372925843
NM_006270.5(RRAS):c.154-5G>A
NM_006270.5(RRAS):c.158A>T (p.Tyr53Phe) rs908791453
NM_006270.5(RRAS):c.167C>G (p.Ser56Cys) rs537601977
NM_006270.5(RRAS):c.174C>T (p.Tyr58=) rs145282813
NM_006270.5(RRAS):c.175G>C (p.Asp59His) rs775437600
NM_006270.5(RRAS):c.201G>A (p.Thr67=) rs1421164782
NM_006270.5(RRAS):c.229G>A (p.Ala77Thr)
NM_006270.5(RRAS):c.231C>A (p.Ala77=) rs557964716
NM_006270.5(RRAS):c.241+5G>A
NM_006270.5(RRAS):c.241+6G>A
NM_006270.5(RRAS):c.241+9G>A
NM_006270.5(RRAS):c.242-8C>T
NM_006270.5(RRAS):c.243C>T (p.Ile81=) rs116683551
NM_006270.5(RRAS):c.255G>A (p.Ala85=) rs142801791
NM_006270.5(RRAS):c.307G>A (p.Gly103Ser)
NM_006270.5(RRAS):c.324C>T (p.Phe108=)
NM_006270.5(RRAS):c.333C>T (p.Asn111=) rs1865077
NM_006270.5(RRAS):c.338G>A (p.Arg113Gln) rs766259420
NM_006270.5(RRAS):c.344+6_344+7del
NM_006270.5(RRAS):c.345-4G>A rs377672475
NM_006270.5(RRAS):c.351C>T (p.Asn117=)
NM_006270.5(RRAS):c.352G>A (p.Glu118Lys)
NM_006270.5(RRAS):c.362A>G (p.Lys121Arg) rs138124318
NM_006270.5(RRAS):c.371C>G (p.Thr124Arg)
NM_006270.5(RRAS):c.371C>T (p.Thr124Met) rs369508242
NM_006270.5(RRAS):c.372G>A (p.Thr124=) rs368978550
NM_006270.5(RRAS):c.379C>T (p.Leu127=) rs145907892
NM_006270.5(RRAS):c.37C>A (p.Arg13=) rs1272875791
NM_006270.5(RRAS):c.394C>T (p.Arg132Cys)
NM_006270.5(RRAS):c.396C>T (p.Arg132=) rs748366671
NM_006270.5(RRAS):c.397G>A (p.Asp133Asn) rs61760904
NM_006270.5(RRAS):c.400G>A (p.Asp134Asn) rs374650566
NM_006270.5(RRAS):c.408C>G (p.Pro136=)
NM_006270.5(RRAS):c.408C>T (p.Pro136=) rs114187560
NM_006270.5(RRAS):c.409G>A (p.Val137Ile) rs757080959
NM_006270.5(RRAS):c.427A>T (p.Lys143Ter) rs896071517
NM_006270.5(RRAS):c.438G>T (p.Leu146=) rs1599813671
NM_006270.5(RRAS):c.448C>T (p.Arg150Cys)
NM_006270.5(RRAS):c.453+7G>A
NM_006270.5(RRAS):c.454-10C>G rs731861
NM_006270.5(RRAS):c.454-6C>T rs1568436933
NM_006270.5(RRAS):c.454-9T>A rs1490597941
NM_006270.5(RRAS):c.454-9T>C rs1490597941
NM_006270.5(RRAS):c.457C>A (p.Pro153Thr) rs1423079476
NM_006270.5(RRAS):c.472_473insTT (p.Ser158fs) rs760978291
NM_006270.5(RRAS):c.492C>T (p.His164=)
NM_006270.5(RRAS):c.495C>T (p.His165=)
NM_006270.5(RRAS):c.496G>A (p.Val166Met)
NM_006270.5(RRAS):c.49G>T (p.Gly17Trp) rs373359206
NM_006270.5(RRAS):c.509A>G (p.Glu170Gly)
NM_006270.5(RRAS):c.515C>T (p.Ser172Leu) rs754342165
NM_006270.5(RRAS):c.516G>C (p.Ser172=) rs199924228
NM_006270.5(RRAS):c.526C>T (p.Arg176Cys)
NM_006270.5(RRAS):c.533A>G (p.Asn178Ser)
NM_006270.5(RRAS):c.534C>T (p.Asn178=)
NM_006270.5(RRAS):c.540C>T (p.Asp180=)
NM_006270.5(RRAS):c.543G>A (p.Glu181=)
NM_006270.5(RRAS):c.54A>T (p.Gly18=) rs571103858
NM_006270.5(RRAS):c.553C>A (p.Gln185Lys)
NM_006270.5(RRAS):c.562C>T (p.Arg188Trp)
NM_006270.5(RRAS):c.568G>C (p.Val190Leu) rs2230917
NM_006270.5(RRAS):c.572G>A (p.Arg191Gln) rs759803129
NM_006270.5(RRAS):c.572G>T (p.Arg191Leu)
NM_006270.5(RRAS):c.598C>T (p.Pro200Ser)
NM_006270.5(RRAS):c.600G>A (p.Pro200=) rs183538580
NM_006270.5(RRAS):c.614C>T (p.Ala205Val)
NM_006270.5(RRAS):c.61C>T (p.Pro21Ser) rs1166281308
NM_006270.5(RRAS):c.623A>G (p.Lys208Arg) rs1568436746
NM_006270.5(RRAS):c.627G>T (p.Lys209Asn)
NM_006270.5(RRAS):c.631G>A (p.Gly211Arg) rs369588682
NM_006270.5(RRAS):c.649C>G (p.Leu217Val) rs988964363
NM_006270.5(RRAS):c.64G>T (p.Gly22Trp) rs754976061
NM_006270.5(RRAS):c.67G>A (p.Asp23Asn)
NM_006270.5(RRAS):c.69C>T (p.Asp23=)
NM_006270.5(RRAS):c.74C>T (p.Pro25Leu) rs558985706
NM_006270.5(RRAS):c.94C>T (p.Leu32=)
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) rs869025189
NM_006912.6(RIT1):c.113C>A (p.Thr38Asn)
NM_006912.6(RIT1):c.131A>T (p.His44Leu)
NM_006912.6(RIT1):c.151G>T (p.Asp51Tyr) rs869025190
NM_006912.6(RIT1):c.152A>T (p.Asp51Val)
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.233G>A (p.Gly78Glu) rs1557960268
NM_006912.6(RIT1):c.235C>G (p.Gln79Glu)
NM_006912.6(RIT1):c.241G>C (p.Glu81Gln) rs869025192
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>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) rs869025195
NM_006912.6(RIT1):c.251C>T (p.Ala84Val) rs869025196
NM_006912.6(RIT1):c.265T>C (p.Tyr89His) rs869025197
NM_006912.6(RIT1):c.268A>G (p.Met90Val) rs1557960039
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006912.6(RIT1):c.313C>T (p.Arg105Cys)
NM_006939.4(SOS2):c.1126A>T (p.Thr376Ser) rs1594982548
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_006939.4(SOS2):c.1339C>A (p.Pro447Thr)
NM_006939.4(SOS2):c.13C>G (p.Pro5Ala)
NM_006939.4(SOS2):c.1634G>A (p.Arg545His)
NM_006939.4(SOS2):c.2261G>A (p.Ser754Asn) rs181275468
NM_006939.4(SOS2):c.2312_2313insTGTCCT (p.Phe772_Asp773insValLeu)
NM_006939.4(SOS2):c.2317G>C (p.Asp773His) rs114711076
NM_006939.4(SOS2):c.3088A>G (p.Thr1030Ala) rs550680554
NM_006939.4(SOS2):c.3530C>T (p.Pro1177Leu) rs1566814839
NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg)
NM_006939.4(SOS2):c.530A>G (p.Asp177Gly)
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578
NM_006939.4(SOS2):c.584G>C (p.Gly195Ala)
NM_006939.4(SOS2):c.709C>A (p.Pro237Thr)
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys) rs1595001710
NM_006939.4(SOS2):c.791C>G (p.Thr264Arg)
NM_006939.4(SOS2):c.800T>G (p.Met267Arg) rs797045167
NM_007373.4(SHOC2):c.1207A>G (p.Ser403Gly)
NM_007373.4(SHOC2):c.1231A>G (p.Thr411Ala) rs730881021
NM_007373.4(SHOC2):c.1741A>G (p.Met581Val) rs1470655019
NM_007373.4(SHOC2):c.187G>A (p.Gly63Arg)
NM_007373.4(SHOC2):c.307A>G (p.Met103Val)
NM_007373.4(SHOC2):c.323C>G (p.Ser108Cys)
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly) rs730881019
NM_007373.4(SHOC2):c.79G>C (p.Glu27Gln)
NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr) rs782457908
NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu) rs113954997
NM_012250.6(RRAS2):c.65_73dup (p.Gly22_Gly24dup) rs1591495776
NM_012250.6(RRAS2):c.68G>T (p.Gly23Val) rs1591495779
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup) rs1591495767
NM_030662.4(MAP2K2):c.1109A>G (p.Lys370Arg) rs1599278009
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met) rs117945277
NM_030662.4(MAP2K2):c.149A>G (p.Gln50Arg) rs1599307416
NM_030662.4(MAP2K2):c.26T>C (p.Leu9Pro) rs758307267
NM_030662.4(MAP2K2):c.325C>G (p.Pro109Ala) rs1060502983
NM_030662.4(MAP2K2):c.46C>A (p.Pro16Thr) rs904859028
NM_030662.4(MAP2K2):c.523A>G (p.Ile175Val) rs373325880
NM_030662.4(MAP2K2):c.640G>A (p.Gly214Arg)
NM_030662.4(MAP2K2):c.643G>T (p.Val215Leu)
NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn) rs150369301
NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln) rs151133017
NM_033360.4(KRAS):c.*101_*106del rs1339924833
NM_033360.4(KRAS):c.*1094G>T rs61763590
NM_033360.4(KRAS):c.*1183G>A rs61763591
NM_033360.4(KRAS):c.*1204A>G rs7960917
NM_033360.4(KRAS):c.*1326C>T rs574966178
NM_033360.4(KRAS):c.*1539_*1541del rs200038818
NM_033360.4(KRAS):c.*1622G>A rs886049194
NM_033360.4(KRAS):c.*1661T>C rs61764366
NM_033360.4(KRAS):c.*16T>C rs779184057
NM_033360.4(KRAS):c.*1708T>C rs7973450
NM_033360.4(KRAS):c.*1748dup rs71065923
NM_033360.4(KRAS):c.*1752A>G rs763217196
NM_033360.4(KRAS):c.*1758_*1759del rs535478558
NM_033360.4(KRAS):c.*1759A>G rs4597149
NM_033360.4(KRAS):c.*1776C>T rs7973623
NM_033360.4(KRAS):c.*1777A>G rs886049193
NM_033360.4(KRAS):c.*180A>G rs886049198
NM_033360.4(KRAS):c.*1826C>G rs539213224
NM_033360.4(KRAS):c.*1831G>A rs531344668
NM_033360.4(KRAS):c.*1886T>C rs115968671
NM_033360.4(KRAS):c.*1893A>G rs886049192
NM_033360.4(KRAS):c.*1967del rs886049191
NM_033360.4(KRAS):c.*2012T>C rs886049190
NM_033360.4(KRAS):c.*2305A>G rs61764368
NM_033360.4(KRAS):c.*2360A>G rs886049189
NM_033360.4(KRAS):c.*2391_*2392insC rs886049188
NM_033360.4(KRAS):c.*2400dup rs56128001
NM_033360.4(KRAS):c.*2446G>A rs886049187
NM_033360.4(KRAS):c.*2492C>T rs61764369
NM_033360.4(KRAS):c.*2577G>A rs886049186
NM_033360.4(KRAS):c.*2605G>A rs779071703
NM_033360.4(KRAS):c.*2626T>G rs61764370
NM_033360.4(KRAS):c.*2815C>T rs886049185
NM_033360.4(KRAS):c.*297C>T rs886049197
NM_033360.4(KRAS):c.*298T>G rs712
NM_033360.4(KRAS):c.*3009A>G rs13096
NM_033360.4(KRAS):c.*3092_*3095del rs886049184
NM_033360.4(KRAS):c.*314C>T rs150334904
NM_033360.4(KRAS):c.*3269C>T rs886049183
NM_033360.4(KRAS):c.*3273G>A rs61764371
NM_033360.4(KRAS):c.*3323T>C rs886049182
NM_033360.4(KRAS):c.*3385del rs34176876
NM_033360.4(KRAS):c.*3498C>T rs1137188
NM_033360.4(KRAS):c.*3522T>A rs1137189
NM_033360.4(KRAS):c.*3575T>C rs749403585
NM_033360.4(KRAS):c.*3620C>T rs886049181
NM_033360.4(KRAS):c.*3623T>A rs61764372
NM_033360.4(KRAS):c.*3672C>G rs188922523
NM_033360.4(KRAS):c.*3766A>G rs529959450
NM_033360.4(KRAS):c.*3803_*3804dup rs142323886
NM_033360.4(KRAS):c.*3804dup rs142323886
NM_033360.4(KRAS):c.*3875_*3878del rs886049180
NM_033360.4(KRAS):c.*3881A>C rs1137196
NM_033360.4(KRAS):c.*3907A>G rs8720
NM_033360.4(KRAS):c.*4022A>C rs12587
NM_033360.4(KRAS):c.*4036A>G rs886049179
NM_033360.4(KRAS):c.*4186_*4187del rs34719539
NM_033360.4(KRAS):c.*4187del rs34719539
NM_033360.4(KRAS):c.*4195G>A rs886049177
NM_033360.4(KRAS):c.*4200T>A rs12245
NM_033360.4(KRAS):c.*4426_*4427dup rs61764373
NM_033360.4(KRAS):c.*4432A>G rs61764374
NM_033360.4(KRAS):c.*4549G>C rs545014897
NM_033360.4(KRAS):c.*4604G>A rs577486152
NM_033360.4(KRAS):c.*4619T>C rs768891600
NM_033360.4(KRAS):c.*4643G>A rs886049176
NM_033360.4(KRAS):c.*491C>G rs886049196
NM_033360.4(KRAS):c.*525T>C rs140080026
NM_033360.4(KRAS):c.*633T>C rs9266
NM_033360.4(KRAS):c.*659del rs756307694
NM_033360.4(KRAS):c.*671C>T rs566222739
NM_033360.4(KRAS):c.*886A>G rs886049195
NM_033360.4(KRAS):c.*945T>C rs61763589
NM_033360.4(KRAS):c.*986T>C rs559143985
NM_033360.4(KRAS):c.-128C>G rs886049199
NM_033360.4(KRAS):c.-176_-174CGG[4] rs886049200
NM_033360.4(KRAS):c.-180G>A rs886049201
NM_033360.4(KRAS):c.15A>T (p.Lys5Asn) rs104894361
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473
NM_144670.6(A2ML1):c.1417G>T (p.Asp473Tyr) rs201950472
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His) rs201562272
NM_152594.3(SPRED1):c.1225_1226delinsTT (p.Ala409Phe) rs1566877075
NM_152594.3(SPRED1):c.1285T>C (p.Cys429Arg)
NM_152594.3(SPRED1):c.282T>G (p.Ile94Met)
NM_152594.3(SPRED1):c.47G>A (p.Arg16Gln)
NM_152594.3(SPRED1):c.535G>A (p.Glu179Lys)
NM_152594.3(SPRED1):c.836G>A (p.Ser279Asn)
NM_152594.3(SPRED1):c.854C>T (p.Pro285Leu)
NM_152594.3(SPRED1):c.997T>G (p.Ser333Ala)
NM_181784.3(SPRED2):c.1142_1143del (p.Leu381fs)
NM_181784.3(SPRED2):c.187C>T (p.Arg63Ter)
NM_181784.3(SPRED2):c.299T>C (p.Leu100Pro)

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