ClinVar Miner

List of variants studied for Rasopathy by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 551
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HGVS dbSNP
NC_000002.11:g.(?_38297845)_(39347583_?)dup
NC_000002.11:g.(?_39278265)_(39347583_?)dup
NC_000002.11:g.(?_39294749)_(39347583_?)dup
NC_000003.11:g.(?_12626003)_(12660230_?)dup
NC_000003.11:g.(?_12627160)_(12627318_?)dup
NC_000007.13:g.(?_140434377)_(140534692_?)dup
NC_000007.13:g.(?_140434387)_(140534682_?)dup
NC_000010.10:g.(?_112327555)_(112771596_?)dup
NC_000011.9:g.(?_118967698)_(119170501_?)del
NC_000012.11:g.(?_112856896)_(112942588_?)dup
NC_000012.11:g.(?_112915455)_(112915819_?)del
NC_000012.11:g.(?_25362709)_(25362865_?)del
NC_000012.11:g.(?_25362709)_(25398338_?)dup
NC_000019.9:g.(?_4097267)_(4097351_?)del
NM_001269039.2(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_001354691.2(RAF1):c.-7_-6delinsAT rs876657965
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) rs267606921
NM_002524.5(NRAS):c.159G>A (p.Leu53=) rs114668710
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.25G>A (p.Val9Ile) rs1553244682
NM_002524.5(NRAS):c.320A>C (p.Asp107Ala)
NM_002524.5(NRAS):c.380C>T (p.Thr127Ile) rs779899354
NM_002524.5(NRAS):c.393C>T (p.His131=) rs745954671
NM_002524.5(NRAS):c.434C>T (p.Ser145Leu) rs1163400692
NM_002524.5(NRAS):c.461A>G (p.Asp154Gly) rs1429449890
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser) rs374061873
NM_002524.5(NRAS):c.561G>A (p.Val187=)
NM_002524.5(NRAS):c.65A>G (p.Gln22Arg)
NM_002755.3(MAP2K1):c.1039G>A (p.Ala347Thr) rs746354996
NM_002755.3(MAP2K1):c.126_128TGA[1] (p.Asp43del) rs1555416037
NM_002755.3(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.3(MAP2K1):c.323G>A (p.Arg108Gln) rs727504819
NM_002755.3(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.3(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002755.3(MAP2K1):c.411C>T (p.Gly137=) rs146415623
NM_002755.3(MAP2K1):c.525A>G (p.Lys175=) rs1555416880
NM_002755.3(MAP2K1):c.56C>G (p.Ala19Gly) rs727504413
NM_002755.3(MAP2K1):c.631G>A (p.Val211Ile) rs727505206
NM_002755.3(MAP2K1):c.726G>T (p.Val242=) rs373745627
NM_002755.3(MAP2K1):c.810G>A (p.Glu270=) rs745891583
NM_002755.3(MAP2K1):c.871A>G (p.Arg291Gly) rs747807884
NM_002755.3(MAP2K1):c.917C>T (p.Pro306Leu) rs1555420826
NM_002755.3(MAP2K1):c.961C>T (p.Pro321Ser) rs771613524
NM_002834.4(PTPN11):c.1004A>C (p.Gln335Pro) rs886041622
NM_002834.4(PTPN11):c.1041A>G (p.Gln347=)
NM_002834.4(PTPN11):c.1057A>C (p.Ile353Leu) rs752392909
NM_002834.4(PTPN11):c.1190C>T (p.Thr397Met) rs767503386
NM_002834.4(PTPN11):c.1191G>T (p.Thr397=) rs775571445
NM_002834.4(PTPN11):c.1216G>A (p.Val406Ile)
NM_002834.4(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.4(PTPN11):c.127C>T (p.Leu43Phe) rs1566164987
NM_002834.4(PTPN11):c.1281C>T (p.Gly427=) rs753173299
NM_002834.4(PTPN11):c.1327C>T (p.His443Tyr) rs779236638
NM_002834.4(PTPN11):c.1366G>A (p.Val456Met) rs397516796
NM_002834.4(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.4(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.4(PTPN11):c.14+6G>T
NM_002834.4(PTPN11):c.1402A>C (p.Thr468Pro) rs397507537
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.4(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.4(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.4(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541
NM_002834.4(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.4(PTPN11):c.1502G>A (p.Arg501Lys) rs397507543
NM_002834.4(PTPN11):c.1505C>T (p.Ser502Leu) rs397507544
NM_002834.4(PTPN11):c.1506_1507delinsCC (p.Gly503Arg) rs1566186833
NM_002834.4(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.4(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.4(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546
NM_002834.4(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.4(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.4(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.4(PTPN11):c.1529A>C (p.Gln510Pro) rs121918470
NM_002834.4(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.4(PTPN11):c.166A>G (p.Ile56Val) rs397507504
NM_002834.4(PTPN11):c.1675C>T (p.Pro559Ser) rs1060502526
NM_002834.4(PTPN11):c.1676C>G (p.Pro559Arg) rs1253971623
NM_002834.4(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797
NM_002834.4(PTPN11):c.167T>C (p.Ile56Thr) rs1052382672
NM_002834.4(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214
NM_002834.4(PTPN11):c.172A>C (p.Asn58His) rs397507505
NM_002834.4(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.4(PTPN11):c.173A>G (p.Asn58Ser) rs751437780
NM_002834.4(PTPN11):c.174C>A (p.Asn58Lys) rs397507506
NM_002834.4(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.4(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.4(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.4(PTPN11):c.182A>T (p.Asp61Val) rs121918461
NM_002834.4(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.4(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459
NM_002834.4(PTPN11):c.205G>C (p.Glu69Gln) rs397507511
NM_002834.4(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.4(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.4(PTPN11):c.213T>G (p.Phe71Leu) rs1555267558
NM_002834.4(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.4(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.4(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.4(PTPN11):c.223G>C (p.Ala75Pro) rs1555267561
NM_002834.4(PTPN11):c.228G>C (p.Glu76Asp) rs397507514
NM_002834.4(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.4(PTPN11):c.317A>C (p.Asp106Ala) rs397507517
NM_002834.4(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002834.4(PTPN11):c.333-3T>C rs146749153
NM_002834.4(PTPN11):c.369G>T (p.Glu123Asp) rs755619262
NM_002834.4(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_002834.4(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.4(PTPN11):c.417G>T (p.Glu139Asp) rs397507520
NM_002834.4(PTPN11):c.418A>T (p.Ser140Cys) rs1060502527
NM_002834.4(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381
NM_002834.4(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.4(PTPN11):c.642G>A (p.Gln214=) rs876661383
NM_002834.4(PTPN11):c.643-7C>T rs1555268066
NM_002834.4(PTPN11):c.66A>G (p.Thr22=) rs397516808
NM_002834.4(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.4(PTPN11):c.781C>T (p.Leu261Phe) rs397507525
NM_002834.4(PTPN11):c.782T>A (p.Leu261His) rs765642157
NM_002834.4(PTPN11):c.782T>G (p.Leu261Arg) rs765642157
NM_002834.4(PTPN11):c.785T>G (p.Leu262Arg) rs397507526
NM_002834.4(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002834.4(PTPN11):c.802G>T (p.Gly268Cys) rs397507527
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.4(PTPN11):c.844A>G (p.Ile282Val) rs397507529
NM_002834.4(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.4(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.4(PTPN11):c.854T>G (p.Phe285Cys) rs121918463
NM_002834.4(PTPN11):c.855T>G (p.Phe285Leu) rs397516810
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.4(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002834.4(PTPN11):c.931A>G (p.Met311Val) rs774939392
NM_002880.3(RAF1):c.-26-?_1370+?dup
NM_002880.3(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_002880.3(RAF1):c.113A>C (p.Tyr38Ser) rs576041742
NM_002880.3(RAF1):c.1144C>T (p.Pro382Ser)
NM_002880.3(RAF1):c.1150C>G (p.Pro384Ala) rs140788943
NM_002880.3(RAF1):c.118C>T (p.Arg40Cys) rs772390935
NM_002880.3(RAF1):c.1193G>T (p.Arg398Leu) rs730880382
NM_002880.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_002880.3(RAF1):c.122G>T (p.Arg41Leu) rs145611571
NM_002880.3(RAF1):c.1247A>G (p.Asn416Ser)
NM_002880.3(RAF1):c.1272C>T (p.Cys424=) rs142942142
NM_002880.3(RAF1):c.133G>A (p.Asp45Asn)
NM_002880.3(RAF1):c.1349G>T (p.Arg450Leu) rs886041642
NM_002880.3(RAF1):c.1355C>T (p.Thr452Met) rs555781462
NM_002880.3(RAF1):c.1457A>G (p.Asp486Gly) rs397516815
NM_002880.3(RAF1):c.1517C>T (p.Thr506Ile) rs1315751104
NM_002880.3(RAF1):c.1556T>G (p.Met519Arg)
NM_002880.3(RAF1):c.1655A>G (p.Asn552Ser) rs775817988
NM_002880.3(RAF1):c.1688G>A (p.Arg563Gln) rs727504827
NM_002880.3(RAF1):c.1694A>G (p.Tyr565Cys)
NM_002880.3(RAF1):c.16G>A (p.Gly6Arg)
NM_002880.3(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565
NM_002880.3(RAF1):c.1741A>G (p.Met581Val) rs752063874
NM_002880.3(RAF1):c.1814C>T (p.Ser605Phe) rs730881004
NM_002880.3(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.3(RAF1):c.1901T>C (p.Ile634Thr)
NM_002880.3(RAF1):c.1904A>G (p.Asn635Ser) rs772585174
NM_002880.3(RAF1):c.1913C>T (p.Thr638Met) rs730881007
NM_002880.3(RAF1):c.1936C>T (p.Pro646Ser) rs1060503152
NM_002880.3(RAF1):c.262G>T (p.Val88Leu) rs1559438429
NM_002880.3(RAF1):c.309C>G (p.His103Gln) rs1057520880
NM_002880.3(RAF1):c.30G>A (p.Thr10=) rs140806518
NM_002880.3(RAF1):c.365T>C (p.Ile122Thr) rs730881000
NM_002880.3(RAF1):c.370G>A (p.Glu124Lys) rs1060503153
NM_002880.3(RAF1):c.41G>A (p.Gly14Asp) rs757333753
NM_002880.3(RAF1):c.420C>G (p.Asn140Lys) rs775525868
NM_002880.3(RAF1):c.434C>T (p.Thr145Met) rs762448032
NM_002880.3(RAF1):c.462C>G (p.Ile154Met) rs367732360
NM_002880.3(RAF1):c.482A>G (p.Asn161Ser) rs775781057
NM_002880.3(RAF1):c.507C>G (p.Gly169=) rs1309333776
NM_002880.3(RAF1):c.513A>G (p.Lys171=) rs561163045
NM_002880.3(RAF1):c.537A>G (p.Lys179=)
NM_002880.3(RAF1):c.570C>T (p.Ile190=) rs780912024
NM_002880.3(RAF1):c.589C>G (p.Pro197Ala)
NM_002880.3(RAF1):c.601A>G (p.Ile201Val) rs757700986
NM_002880.3(RAF1):c.606T>G (p.Gly202=) rs754197477
NM_002880.3(RAF1):c.622G>C (p.Ala208Pro)
NM_002880.3(RAF1):c.647G>A (p.Arg216His) rs761703202
NM_002880.3(RAF1):c.66T>G (p.Phe22Leu) rs397516824
NM_002880.3(RAF1):c.672G>T (p.Met224Ile) rs1553614191
NM_002880.3(RAF1):c.680+6T>C rs371846795
NM_002880.3(RAF1):c.681-5_681-3del rs1553613814
NM_002880.3(RAF1):c.746G>T (p.Gly249Val) rs1559426289
NM_002880.3(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.3(RAF1):c.776C>G (p.Ser259Cys) rs397516827
NM_002880.3(RAF1):c.776C>T (p.Ser259Phe) rs397516827
NM_002880.3(RAF1):c.779C>A (p.Thr260Lys)
NM_002880.3(RAF1):c.779C>T (p.Thr260Ile) rs869025501
NM_002880.3(RAF1):c.781C>A (p.Pro261Thr) rs121434594
NM_002880.3(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_002880.3(RAF1):c.782C>G (p.Pro261Arg) rs397516828
NM_002880.3(RAF1):c.788T>C (p.Val263Ala) rs397516830
NM_002880.3(RAF1):c.791A>T (p.His264Leu) rs1057517887
NM_002880.3(RAF1):c.835-9C>G rs200112870
NM_002880.3(RAF1):c.835G>A (p.Asp279Asn) rs368796800
NM_002880.3(RAF1):c.848G>A (p.Ser283Asn)
NM_002880.3(RAF1):c.853A>G (p.Ser285Gly) rs150054973
NM_002880.3(RAF1):c.855C>T (p.Ser285=) rs763657486
NM_002880.3(RAF1):c.892A>C (p.Asn298His) rs878854567
NM_002880.3(RAF1):c.907A>G (p.Thr303Ala) rs775898894
NM_002880.3(RAF1):c.917C>T (p.Ser306Leu) rs886041231
NM_002880.3(RAF1):c.933C>T (p.Pro311=) rs1553613022
NM_002880.3(RAF1):c.934G>A (p.Val312Met) rs555034652
NM_002880.3(RAF1):c.94A>G (p.Ile32Val) rs372738063
NM_002880.3(RAF1):c.952C>T (p.Arg318Trp)
NM_002880.3(RAF1):c.953G>A (p.Arg318Gln)
NM_002880.3(RAF1):c.958C>T (p.Pro320Ser)
NM_002880.3(RAF1):c.97G>A (p.Val33Ile)
NM_002880.3(RAF1):c.997C>T (p.Arg333Cys) rs551466727
NM_004333.6(BRAF):c.1022C>A (p.Pro341Gln) rs863224722
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val) rs201481342
NM_004333.6(BRAF):c.1096G>C (p.Ala366Pro)
NM_004333.6(BRAF):c.1157A>G (p.Gln386Arg) rs1554401118
NM_004333.6(BRAF):c.1190G>A (p.Gly397Asp) rs1554400237
NM_004333.6(BRAF):c.1196C>T (p.Ser399Phe) rs1554400234
NM_004333.6(BRAF):c.138+3G>A rs1554430994
NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg) rs121913349
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) rs121913348
NM_004333.6(BRAF):c.1403T>C (p.Phe468Ser) rs397507473
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1411G>T (p.Val471Phe) rs121913376
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) rs180177038
NM_004333.6(BRAF):c.1502A>C (p.Glu501Ala) rs180177039
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_004333.6(BRAF):c.1505_1507dup (p.Val502dup) rs1562955153
NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr) rs397507479
NM_004333.6(BRAF):c.1643T>C (p.Phe548Ser) rs1562954580
NM_004333.6(BRAF):c.1661T>C (p.Ile554Thr) rs878854675
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) rs121913338
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.6(BRAF):c.1799T>G (p.Val600Gly) rs113488022
NM_004333.6(BRAF):c.1914T>G (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.2015G>T (p.Gly672Val) rs1428696172
NM_004333.6(BRAF):c.2125C>A (p.Gln709Lys) rs1554389828
NM_004333.6(BRAF):c.2127+7A>G rs371857758
NM_004333.6(BRAF):c.2128-15_2128-14dup rs373442098
NM_004333.6(BRAF):c.2128-5del rs373442098
NM_004333.6(BRAF):c.2142T>C (p.Ile714=) rs1554388024
NM_004333.6(BRAF):c.2279A>G (p.Tyr760Cys) rs1305119093
NM_004333.6(BRAF):c.279A>G (p.Gln93=) rs150050723
NM_004333.6(BRAF):c.316G>A (p.Gly106Arg) rs749247588
NM_004333.6(BRAF):c.358G>A (p.Val120Ile) rs766748977
NM_004333.6(BRAF):c.375T>G (p.Ser125=) rs201507202
NM_004333.6(BRAF):c.39G>C (p.Glu13Asp) rs868441785
NM_004333.6(BRAF):c.41C>G (p.Pro14Arg) rs397507455
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012
NM_004333.6(BRAF):c.533G>A (p.Arg178Gln) rs746348396
NM_004333.6(BRAF):c.68T>A (p.Met23Lys) rs746778122
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.722C>A (p.Thr241Lys) rs387906660
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.6(BRAF):c.730A>C (p.Thr244Pro) rs397507465
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) rs397516903
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004333.6(BRAF):c.785A>G (p.Gln262Arg) rs397516904
NM_004333.6(BRAF):c.83_88GCGCCG[2] (p.28_29GA[2]) rs397507458
NM_004333.6(BRAF):c.83_88GCGCCG[4] (p.28_29GA[4]) rs397507458
NM_004333.6(BRAF):c.83_88GCGCCG[5] (p.28_29GA[5]) rs397507458
NM_004333.6(BRAF):c.92C>G (p.Ala31Gly) rs397516906
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529
NM_005188.3(CBL):c.1033C>G (p.Gln345Glu) rs202095002
NM_005188.3(CBL):c.1043A>G (p.Asp348Gly)
NM_005188.3(CBL):c.1074A>G (p.Gln358=) rs1060500678
NM_005188.3(CBL):c.107_109ACC[9] (p.His41_His42dup) rs373212940
NM_005188.3(CBL):c.1088T>G (p.Val363Gly)
NM_005188.3(CBL):c.108C>G (p.His36Gln)
NM_005188.3(CBL):c.1096-1G>T rs397517076
NM_005188.3(CBL):c.1100A>C (p.Gln367Pro) rs267606704
NM_005188.3(CBL):c.1111T>C (p.Tyr371His) rs267606706
NM_005188.3(CBL):c.1137A>G (p.Gln379=)
NM_005188.3(CBL):c.1139T>C (p.Leu380Pro) rs1377506801
NM_005188.3(CBL):c.1141T>C (p.Cys381Arg) rs757874631
NM_005188.3(CBL):c.1156G>A (p.Glu386Lys)
NM_005188.3(CBL):c.1165A>G (p.Lys389Glu) rs1060500676
NM_005188.3(CBL):c.1167G>T (p.Lys389Asn) rs773598122
NM_005188.3(CBL):c.1202G>T (p.Cys401Phe)
NM_005188.3(CBL):c.120C>T (p.His40=) rs745328496
NM_005188.3(CBL):c.1228-2A>G rs727504426
NM_005188.3(CBL):c.1259G>A (p.Arg420Gln) rs267606708
NM_005188.3(CBL):c.125A>T (p.His42Leu) rs730880433
NM_005188.3(CBL):c.1263T>G (p.Cys421Trp)
NM_005188.3(CBL):c.1277C>T (p.Thr426Ile) rs769547118
NM_005188.3(CBL):c.127_129dup (p.Leu43dup) rs1555225106
NM_005188.3(CBL):c.1288G>A (p.Val430Met) rs991981291
NM_005188.3(CBL):c.1290G>A (p.Val430=) rs1060503996
NM_005188.3(CBL):c.1296T>C (p.Asp432=) rs1188095865
NM_005188.3(CBL):c.1319G>T (p.Gly440Val)
NM_005188.3(CBL):c.1324C>A (p.Leu442Met) rs200508558
NM_005188.3(CBL):c.1364A>G (p.Tyr455Cys) rs1565872426
NM_005188.3(CBL):c.1380_1382delTGA rs397507494
NM_005188.3(CBL):c.1394A>T (p.Asp465Val) rs770644035
NM_005188.3(CBL):c.1423G>A (p.Gly475Ser) rs764599897
NM_005188.3(CBL):c.1432-10T>C rs369724825
NM_005188.3(CBL):c.1459A>G (p.Met487Val) rs17848896
NM_005188.3(CBL):c.1460T>C (p.Met487Thr) rs995860476
NM_005188.3(CBL):c.1477C>T (p.Leu493Phe) rs730880434
NM_005188.3(CBL):c.1511C>T (p.Pro504Leu) rs533554769
NM_005188.3(CBL):c.1528C>G (p.Pro510Ala) rs538054260
NM_005188.3(CBL):c.1552A>G (p.Thr518Ala) rs377734587
NM_005188.3(CBL):c.1564-3C>T rs1555230585
NM_005188.3(CBL):c.1676G>A (p.Arg559Gln) rs143034856
NM_005188.3(CBL):c.1694T>C (p.Leu565Ser) rs1174693367
NM_005188.3(CBL):c.1753C>T (p.Arg585Cys) rs187952822
NM_005188.3(CBL):c.1754G>A (p.Arg585His) rs727504640
NM_005188.3(CBL):c.1765T>C (p.Ser589Pro) rs1555230612
NM_005188.3(CBL):c.1771C>G (p.Leu591Val) rs1060500679
NM_005188.3(CBL):c.1790A>G (p.Lys597Arg)
NM_005188.3(CBL):c.1793T>A (p.Val598Glu) rs1060500675
NM_005188.3(CBL):c.1795C>A (p.Pro599Thr) rs1340017837
NM_005188.3(CBL):c.1810A>G (p.Ser604Gly) rs1555230616
NM_005188.3(CBL):c.1847A>C (p.Asn616Thr) rs376094293
NM_005188.3(CBL):c.1850G>A (p.Arg617Gln) rs780457588
NM_005188.3(CBL):c.1850G>T (p.Arg617Leu) rs780457588
NM_005188.3(CBL):c.1871T>C (p.Leu624Ser) rs150550899
NM_005188.3(CBL):c.1891A>G (p.Arg631Gly) rs552590011
NM_005188.3(CBL):c.1945A>G (p.Met649Val) rs769423231
NM_005188.3(CBL):c.1957C>T (p.Pro653Ser)
NM_005188.3(CBL):c.2017A>G (p.Ile673Val) rs1439055502
NM_005188.3(CBL):c.202C>T (p.Arg68Trp) rs730880429
NM_005188.3(CBL):c.2055A>G (p.Lys685=) rs1454595224
NM_005188.3(CBL):c.2060C>T (p.Pro687Leu) rs146705974
NM_005188.3(CBL):c.2083G>A (p.Glu695Lys) rs143975631
NM_005188.3(CBL):c.2153G>A (p.Arg718Gln) rs144894769
NM_005188.3(CBL):c.2189C>T (p.Thr730Met) rs376848406
NM_005188.3(CBL):c.2222C>T (p.Ala741Val) rs763213265
NM_005188.3(CBL):c.2223G>A (p.Ala741=) rs202229538
NM_005188.3(CBL):c.2251+9C>A rs1439660465
NM_005188.3(CBL):c.227C>T (p.Ala76Val) rs757898729
NM_005188.3(CBL):c.2312A>T (p.Asp771Val) rs199788586
NM_005188.3(CBL):c.2316T>G (p.Asp772Glu) rs774428573
NM_005188.3(CBL):c.2337A>G (p.Pro779=) rs1042340033
NM_005188.3(CBL):c.2338C>T (p.Pro780Ser) rs1555027886
NM_005188.3(CBL):c.2350G>A (p.Val784Met) rs140725852
NM_005188.3(CBL):c.2360G>A (p.Arg787His) rs200220863
NM_005188.3(CBL):c.2390G>C (p.Ser797Thr) rs747073805
NM_005188.3(CBL):c.2393C>T (p.Ser798Phe) rs587778158
NM_005188.3(CBL):c.23G>A (p.Ser8Asn) rs930860175
NM_005188.3(CBL):c.2414_2416dup (p.Asp806_Gly807insVal) rs777761446
NM_005188.3(CBL):c.2458C>G (p.Pro820Ala) rs1356499832
NM_005188.3(CBL):c.2461G>A (p.Glu821Lys) rs759358775
NM_005188.3(CBL):c.248A>G (p.Tyr83Cys) rs1555226659
NM_005188.3(CBL):c.2513G>T (p.Gly838Val) rs144191570
NM_005188.3(CBL):c.2520T>G (p.Cys840Trp)
NM_005188.3(CBL):c.2537C>T (p.Pro846Leu) rs771831548
NM_005188.3(CBL):c.2588A>G (p.Asn863Ser) rs146250423
NM_005188.3(CBL):c.2614C>G (p.Gln872Glu)
NM_005188.3(CBL):c.2666A>G (p.Lys889Arg) rs1369884955
NM_005188.3(CBL):c.2692A>G (p.Ile898Val) rs397507499
NM_005188.3(CBL):c.269A>G (p.Asp90Gly) rs1555226661
NM_005188.3(CBL):c.292A>G (p.Ile98Val) rs1415440583
NM_005188.3(CBL):c.328G>A (p.Gly110Arg) rs1565859798
NM_005188.3(CBL):c.40G>A (p.Gly14Ser) rs1565851542
NM_005188.3(CBL):c.419T>G (p.Met140Arg) rs1555226684
NM_005188.3(CBL):c.43_44delinsCC (p.Ser15Pro) rs1555225091
NM_005188.3(CBL):c.444-9C>T rs892852052
NM_005188.3(CBL):c.446G>A (p.Arg149Gln) rs199739868
NM_005188.3(CBL):c.493C>G (p.Leu165Val) rs1555229540
NM_005188.3(CBL):c.498A>C (p.Lys166Asn) rs1565870421
NM_005188.3(CBL):c.591-8C>G rs749291716
NM_005188.3(CBL):c.625C>G (p.Leu209Val) rs767162260
NM_005188.3(CBL):c.66G>A (p.Ser22=) rs1555225100
NM_005188.3(CBL):c.6C>G (p.Ala2=) rs770473070
NM_005188.3(CBL):c.728T>C (p.Ile243Thr) rs1268100574
NM_005188.3(CBL):c.747+3A>G
NM_005188.3(CBL):c.748-3T>C rs1060500677
NM_005188.3(CBL):c.801C>G (p.Gly267=) rs727502913
NM_005188.3(CBL):c.80G>T (p.Gly27Val) rs933058944
NM_005188.3(CBL):c.838C>T (p.Arg280Trp)
NM_005188.3(CBL):c.895C>T (p.Arg299Cys) rs1053471259
NM_005188.4(CBL):c.1346del (p.Gly449fs)
NM_005633.3(SOS1):c.1007A>G (p.Gln336Arg) rs765028553
NM_005633.3(SOS1):c.1008A>G (p.Gln336=)
NM_005633.3(SOS1):c.1018C>T (p.Pro340Ser) rs190222208
NM_005633.3(SOS1):c.1097A>T (p.Asp366Val) rs1056080833
NM_005633.3(SOS1):c.109A>G (p.Thr37Ala) rs150565592
NM_005633.3(SOS1):c.1132A>G (p.Thr378Ala) rs397517146
NM_005633.3(SOS1):c.115G>A (p.Glu39Lys) rs375934353
NM_005633.3(SOS1):c.1191A>G (p.Lys397=) rs770175415
NM_005633.3(SOS1):c.1202+5A>G rs1021449471
NM_005633.3(SOS1):c.124G>A (p.Asp42Asn)
NM_005633.3(SOS1):c.1269C>G (p.Asn423Lys) rs138459502
NM_005633.3(SOS1):c.1271A>G (p.Glu424Gly) rs730881042
NM_005633.3(SOS1):c.1276C>A (p.Gln426Lys) rs1558474706
NM_005633.3(SOS1):c.1294T>C (p.Trp432Arg) rs267607080
NM_005633.3(SOS1):c.1297G>A (p.Glu433Lys) rs397517147
NM_005633.3(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.3(SOS1):c.1322G>A (p.Cys441Tyr) rs727504295
NM_005633.3(SOS1):c.1352C>G (p.Thr451Arg) rs730880218
NM_005633.3(SOS1):c.1370A>G (p.His457Arg) rs1060503524
NM_005633.3(SOS1):c.1490G>A (p.Arg497Gln) rs371314838
NM_005633.3(SOS1):c.1558G>A (p.Asp520Asn)
NM_005633.3(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005633.3(SOS1):c.1646C>A (p.Thr549Lys) rs730881046
NM_005633.3(SOS1):c.1648C>T (p.Leu550=) rs1233000238
NM_005633.3(SOS1):c.1649T>C (p.Leu550Pro) rs397517153
NM_005633.3(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.3(SOS1):c.1655G>C (p.Arg552Thr) rs397517154
NM_005633.3(SOS1):c.1655G>T (p.Arg552Met) rs397517154
NM_005633.3(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.3(SOS1):c.1656G>T (p.Arg552Ser) rs267607079
NM_005633.3(SOS1):c.1720G>A (p.Val574Ile) rs727504641
NM_005633.3(SOS1):c.1798A>C (p.Ile600Leu) rs373139450
NM_005633.3(SOS1):c.1829T>C (p.Ile610Thr) rs776146535
NM_005633.3(SOS1):c.1850T>C (p.Met617Thr) rs775105134
NM_005633.3(SOS1):c.1867T>G (p.Phe623Val) rs727505093
NM_005633.3(SOS1):c.1931T>C (p.Ile644Thr) rs769891933
NM_005633.3(SOS1):c.2012G>C (p.Ser671Thr) rs1060503525
NM_005633.3(SOS1):c.2089G>T (p.Val697Leu) rs966388444
NM_005633.3(SOS1):c.2097C>A (p.His699Gln) rs765074047
NM_005633.3(SOS1):c.2104T>C (p.Tyr702His) rs727505381
NM_005633.3(SOS1):c.2137C>A (p.Arg713=)
NM_005633.3(SOS1):c.2156G>C (p.Gly719Ala) rs200794965
NM_005633.3(SOS1):c.2165G>A (p.Arg722Lys) rs142666652
NM_005633.3(SOS1):c.2167+1G>A rs1558469557
NM_005633.3(SOS1):c.21C>G (p.Pro7=) rs727504845
NM_005633.3(SOS1):c.2312T>C (p.Ile771Thr) rs557328600
NM_005633.3(SOS1):c.233T>G (p.Phe78Cys) rs201352584
NM_005633.3(SOS1):c.244A>G (p.Ile82Val) rs397517157
NM_005633.3(SOS1):c.2489A>G (p.Asn830Ser) rs397517158
NM_005633.3(SOS1):c.2536G>A (p.Glu846Lys) rs397517159
NM_005633.3(SOS1):c.253T>C (p.Trp85Arg) rs730881054
NM_005633.3(SOS1):c.283G>A (p.Glu95Lys) rs1558493384
NM_005633.3(SOS1):c.2944C>A (p.Arg982=) rs1553351455
NM_005633.3(SOS1):c.2966G>A (p.Arg989Lys) rs202043599
NM_005633.3(SOS1):c.305C>G (p.Pro102Arg) rs1553362937
NM_005633.3(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_005633.3(SOS1):c.3257C>A (p.Pro1086Gln)
NM_005633.3(SOS1):c.3260dup (p.Leu1087fs) rs1558459711
NM_005633.3(SOS1):c.3269C>T (p.Pro1090Leu) rs730881034
NM_005633.3(SOS1):c.3274G>A (p.Ala1092Thr)
NM_005633.3(SOS1):c.3286T>A (p.Ser1096Thr) rs376722127
NM_005633.3(SOS1):c.3322G>A (p.Asp1108Asn) rs199856844
NM_005633.3(SOS1):c.332A>G (p.His111Arg)
NM_005633.3(SOS1):c.3330G>C (p.Ser1110=) rs146383828
NM_005633.3(SOS1):c.3347-1G>A rs141565234
NM_005633.3(SOS1):c.3392G>A (p.Arg1131Lys) rs768113420
NM_005633.3(SOS1):c.3412A>G (p.Ile1138Val) rs56248239
NM_005633.3(SOS1):c.3418T>A (p.Leu1140Ile) rs375550588
NM_005633.3(SOS1):c.3440T>C (p.Val1147Ala) rs1558455818
NM_005633.3(SOS1):c.350T>G (p.Val117Gly) rs201085754
NM_005633.3(SOS1):c.3552T>G (p.Pro1184=) rs200485215
NM_005633.3(SOS1):c.3598_3599delinsAC (p.Asp1200Thr)
NM_005633.3(SOS1):c.3600C>G (p.Asp1200Glu) rs141594736
NM_005633.3(SOS1):c.3602G>A (p.Arg1201Gln)
NM_005633.3(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734
NM_005633.3(SOS1):c.3721A>G (p.Lys1241Glu) rs367693130
NM_005633.3(SOS1):c.3729C>G (p.Asp1243Glu) rs730881026
NM_005633.3(SOS1):c.3763C>A (p.Pro1255Thr) rs972166211
NM_005633.3(SOS1):c.3778C>G (p.Pro1260Ala) rs779336305
NM_005633.3(SOS1):c.3802G>A (p.Gly1268Ser) rs730881051
NM_005633.3(SOS1):c.3836C>T (p.Thr1279Ile) rs758258471
NM_005633.3(SOS1):c.3905T>C (p.Ile1302Thr) rs750296853
NM_005633.3(SOS1):c.3946C>G (p.His1316Asp) rs371024396
NM_005633.3(SOS1):c.39A>G (p.Glu13=) rs763337946
NM_005633.3(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005633.3(SOS1):c.511-9_511-6del rs986512473
NM_005633.3(SOS1):c.512T>G (p.Val171Gly) rs397517174
NM_005633.3(SOS1):c.543A>G (p.Glu181=) rs201068374
NM_005633.3(SOS1):c.558_562del (p.Leu186fs) rs1553362269
NM_005633.3(SOS1):c.643T>C (p.Tyr215His) rs730881039
NM_005633.3(SOS1):c.720+9C>T rs370687707
NM_005633.3(SOS1):c.746T>C (p.Ile249Thr) rs1324979194
NM_005633.3(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_005633.3(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_005633.3(SOS1):c.806T>G (p.Met269Arg) rs137852813
NM_005633.3(SOS1):c.899G>A (p.Arg300Gln) rs754374236
NM_005633.3(SOS1):c.985G>A (p.Glu329Lys) rs756679265
NM_006049.4(SNAPC5):c.*123_*126del
NM_006049.4(SNAPC5):c.*138C>T rs730880500
NM_006049.4(SNAPC5):c.*171T>C
NM_006049.4(SNAPC5):c.*183G>T rs752538915
NM_006049.4(SNAPC5):c.*982T>G
NM_007373.3(SHOC2):c.1004G>A (p.Ser335Asn)
NM_007373.3(SHOC2):c.1186T>C (p.Leu396=) rs1554863245
NM_007373.3(SHOC2):c.1540+8C>A rs771283010
NM_007373.3(SHOC2):c.1540+8C>T rs771283010
NM_007373.3(SHOC2):c.1595G>C (p.Ser532Thr) rs370798940
NM_007373.3(SHOC2):c.1600C>G (p.Pro534Ala) rs1060501926
NM_007373.3(SHOC2):c.1674T>G (p.Pro558=) rs1554863867
NM_007373.3(SHOC2):c.1682T>C (p.Val561Ala) rs776628753
NM_007373.3(SHOC2):c.1689G>T (p.Gly563=) rs759803668
NM_007373.3(SHOC2):c.170C>T (p.Ser57Phe) rs536611911
NM_007373.3(SHOC2):c.1744G>A (p.Val582Ile) rs1564732203
NM_007373.3(SHOC2):c.181C>A (p.Gln61Lys) rs1564714635
NM_007373.3(SHOC2):c.355A>G (p.Ile119Val) rs147068827
NM_007373.3(SHOC2):c.52G>A (p.Val18Ile)
NM_007373.3(SHOC2):c.610A>G (p.Ile204Val) rs200015085
NM_007373.3(SHOC2):c.71G>A (p.Arg24Lys) rs1564714561
NM_007373.3(SHOC2):c.74A>G (p.Glu25Gly) rs730881019
NM_007373.3(SHOC2):c.842-3C>T rs1485718634
NM_007373.3(SHOC2):c.879T>C (p.Tyr293=) rs773817796
NM_007373.3(SHOC2):c.950A>G (p.Asn317Ser) rs1060501927
NM_030662.3(MAP2K2):c.1006G>A (p.Gly336Ser)
NM_030662.3(MAP2K2):c.1085T>C (p.Met362Thr) rs730880513
NM_030662.3(MAP2K2):c.1111C>T (p.Arg371Trp) rs1003521922
NM_030662.3(MAP2K2):c.1112G>A (p.Arg371Gln) rs730880514
NM_030662.3(MAP2K2):c.1190G>A (p.Arg397His)
NM_030662.3(MAP2K2):c.171T>A (p.Phe57Leu) rs1057519910
NM_030662.3(MAP2K2):c.191_192delinsCT (p.Val64Ala) rs1555698682
NM_030662.3(MAP2K2):c.195C>T (p.Gly65=)
NM_030662.3(MAP2K2):c.217G>A (p.Glu73Lys) rs187018595
NM_030662.3(MAP2K2):c.240G>A (p.Ala80=) rs543217722
NM_030662.3(MAP2K2):c.26T>C (p.Leu9Pro) rs758307267
NM_030662.3(MAP2K2):c.281C>T (p.Ser94Leu) rs202220799
NM_030662.3(MAP2K2):c.288_290CAT[1] (p.Ile97del) rs1555698652
NM_030662.3(MAP2K2):c.289A>T (p.Ile97Phe) rs373579939
NM_030662.3(MAP2K2):c.325C>G (p.Pro109Ala) rs1060502983
NM_030662.3(MAP2K2):c.376A>C (p.Asn126His)
NM_030662.3(MAP2K2):c.380C>T (p.Ser127Leu) rs1568260052
NM_030662.3(MAP2K2):c.390C>T (p.Ile130=) rs749956316
NM_030662.3(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_030662.3(MAP2K2):c.402C>T (p.Tyr134=) rs753713281
NM_030662.3(MAP2K2):c.453C>G (p.Asp151Glu) rs17851657
NM_030662.3(MAP2K2):c.491G>T (p.Arg164Met) rs751317148
NM_030662.3(MAP2K2):c.578G>A (p.Arg193Gln) rs530342723
NM_030662.3(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_030662.3(MAP2K2):c.692G>A (p.Arg231His) rs730880511
NM_030662.3(MAP2K2):c.692G>T (p.Arg231Leu) rs730880511
NM_030662.3(MAP2K2):c.706-1_706delinsTT
NM_030662.3(MAP2K2):c.784G>A (p.Val262Ile) rs138873805
NM_030662.3(MAP2K2):c.834C>G (p.Ile278Met) rs766540227
NM_030662.3(MAP2K2):c.842G>A (p.Arg281Gln) rs1332074575
NM_030662.3(MAP2K2):c.856G>A (p.Gly286Arg) rs730880523
NM_030662.3(MAP2K2):c.861A>G (p.Glu287=) rs1431720692
NM_030662.3(MAP2K2):c.865G>A (p.Gly289Arg) rs1555696725
NM_030662.3(MAP2K2):c.890G>A (p.Arg297Gln) rs140111079
NM_030662.3(MAP2K2):c.918C>T (p.Ser306=) rs777196833
NM_030662.3(MAP2K2):c.96A>G (p.Ala32=) rs1555698705
NM_033360.4(KRAS):c.*101_*106del rs1339924833
NM_033360.4(KRAS):c.*12A>G rs104894360
NM_033360.4(KRAS):c.*12A>T rs104894360
NM_033360.4(KRAS):c.*45G>A rs372793780
NM_033360.4(KRAS):c.101C>T (p.Pro34Leu) rs104894366
NM_033360.4(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_033360.4(KRAS):c.112-10C>T rs760989619
NM_033360.4(KRAS):c.148A>G (p.Thr50Ala) rs730880470
NM_033360.4(KRAS):c.154C>T (p.Leu52Phe) rs1555194041
NM_033360.4(KRAS):c.173C>T (p.Thr58Ile) rs104894364
NM_033360.4(KRAS):c.178G>A (p.Gly60Ser) rs104894359
NM_033360.4(KRAS):c.178G>C (p.Gly60Arg) rs104894359
NM_033360.4(KRAS):c.24A>G (p.Val8=) rs147406419
NM_033360.4(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_033360.4(KRAS):c.436G>T (p.Ala146Ser) rs121913527
NM_033360.4(KRAS):c.64C>G (p.Gln22Glu) rs121913236
NM_033360.4(KRAS):c.65A>G (p.Gln22Arg) rs727503110

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