ClinVar Miner

List of variants reported as uncertain significance for RASopathy by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 2625
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.333-3T>C rs146749153 0.00026
NM_005633.4(SOS1):c.233T>G (p.Phe78Cys) rs201352584 0.00019
NM_005633.4(SOS1):c.3347-1G>A rs141565234 0.00017
NM_005633.4(SOS1):c.2966G>A (p.Arg989Lys) rs202043599 0.00016
NM_005633.4(SOS1):c.3706C>A (p.Pro1236Thr) rs727504636 0.00016
NM_002880.4(RAF1):c.680+6T>C rs371846795 0.00014
NM_030662.4(MAP2K2):c.784G>A (p.Val262Ile) rs138873805 0.00014
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00012
NM_005633.4(SOS1):c.2165G>A (p.Arg722Lys) rs142666652 0.00010
NM_002755.4(MAP2K1):c.1168G>A (p.Ala390Thr) rs730880500 0.00009
NM_005633.4(SOS1):c.244A>G (p.Ile82Val) rs397517157 0.00009
NM_005633.4(SOS1):c.3322G>A (p.Asp1108Asn) rs199856844 0.00009
NM_007373.4(SHOC2):c.1477C>T (p.Leu493Phe) rs1026930115 0.00009
NM_007373.4(SHOC2):c.1580A>G (p.Asn527Ser) rs143242369 0.00009
NM_007373.4(SHOC2):c.355A>G (p.Ile119Val) rs147068827 0.00009
NM_030662.4(MAP2K2):c.919+4C>T rs763424788 0.00009
NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly) rs730881019 0.00008
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
NM_004333.6(BRAF):c.28G>A (p.Gly10Ser) rs1356557681 0.00007
NM_002755.4(MAP2K1):c.277G>A (p.Val93Ile) rs151207265 0.00006
NM_002755.4(MAP2K1):c.56C>G (p.Ala19Gly) rs727504413 0.00006
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214 0.00006
NM_002880.4(RAF1):c.1107C>T (p.His369=) rs761947194 0.00006
NM_002880.4(RAF1):c.1814C>T (p.Ser605Phe) rs730881004 0.00006
NM_002880.4(RAF1):c.66T>G (p.Phe22Leu) rs397516824 0.00006
NM_004333.6(BRAF):c.52C>G (p.Leu18Val) rs1222192591 0.00006
NM_004333.6(BRAF):c.92C>G (p.Ala31Gly) rs397516906 0.00006
NM_005188.4(CBL):c.2262T>G (p.Asn754Lys) rs148139669 0.00006
NM_005188.4(CBL):c.2461G>A (p.Glu821Lys) rs759358775 0.00006
NM_007373.4(SHOC2):c.610A>G (p.Ile204Val) rs200015085 0.00006
NM_030662.4(MAP2K2):c.1112G>A (p.Arg371Gln) rs730880514 0.00006
NM_030662.4(MAP2K2):c.604G>A (p.Val202Met) rs769471250 0.00006
NM_030662.4(MAP2K2):c.856G>A (p.Gly286Arg) rs730880523 0.00006
NM_030662.4(MAP2K2):c.890G>A (p.Arg297Gln) rs140111079 0.00006
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val) rs201481342 0.00005
NM_004333.6(BRAF):c.72G>C (p.Glu24Asp) rs587778114 0.00005
NM_005188.4(CBL):c.1095+3G>A rs373738394 0.00005
NM_005188.4(CBL):c.2520T>G (p.Cys840Trp) rs112330156 0.00005
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu) rs202220799 0.00005
NM_030662.4(MAP2K2):c.536G>A (p.Arg179Gln) rs776316565 0.00005
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser) rs572274623 0.00004
NM_002880.4(RAF1):c.1663G>C (p.Asp555His) rs371704292 0.00004
NM_002880.4(RAF1):c.1913C>T (p.Thr638Met) rs730881007 0.00004
NM_004333.6(BRAF):c.1180T>C (p.Ser394Pro) rs923739321 0.00004
NM_004333.6(BRAF):c.1667T>C (p.Ile556Thr) rs760524720 0.00004
NM_004333.6(BRAF):c.995C>T (p.Thr332Ile) rs1008080053 0.00004
NM_005188.4(CBL):c.1360A>G (p.Asn454Asp) rs371850672 0.00004
NM_005188.4(CBL):c.1511C>T (p.Pro504Leu) rs533554769 0.00004
NM_005188.4(CBL):c.1648C>T (p.Arg550Trp) rs202065722 0.00004
NM_005188.4(CBL):c.195+3G>A rs762062705 0.00004
NM_005188.4(CBL):c.2486G>A (p.Arg829Gln) rs374672276 0.00004
NM_005188.4(CBL):c.2614C>A (p.Gln872Lys) rs746795014 0.00004
NM_005188.4(CBL):c.2677C>T (p.Arg893Trp) rs368138875 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_005633.4(SOS1):c.1859-3T>C rs199727062 0.00004
NM_005633.4(SOS1):c.2571G>C (p.Glu857Asp) rs757460662 0.00004
NM_005633.4(SOS1):c.2587C>A (p.Gln863Lys) rs141501083 0.00004
NM_005633.4(SOS1):c.3392G>A (p.Arg1131Lys) rs768113420 0.00004
NM_005633.4(SOS1):c.3857C>T (p.Ser1286Phe) rs374341202 0.00004
NM_007373.4(SHOC2):c.1318C>A (p.Leu440Ile) rs759910472 0.00004
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met) rs117945277 0.00004
NM_030662.4(MAP2K2):c.274A>G (p.Arg92Gly) rs759061964 0.00004
NM_030662.4(MAP2K2):c.289A>T (p.Ile97Phe) rs373579939 0.00004
NM_030662.4(MAP2K2):c.743C>T (p.Ser248Leu) rs761669626 0.00004
NM_030662.4(MAP2K2):c.841C>T (p.Arg281Trp) rs759998177 0.00004
NM_030662.4(MAP2K2):c.889C>T (p.Arg297Trp) rs562352756 0.00004
NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln) rs151133017 0.00004
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser) rs374061873 0.00003
NM_002755.4(MAP2K1):c.1034A>G (p.Asn345Ser) rs760766158 0.00003
NM_002755.4(MAP2K1):c.875C>T (p.Thr292Ile) rs397516794 0.00003
NM_002755.4(MAP2K1):c.901G>A (p.Gly301Arg) rs773890369 0.00003
NM_002834.5(PTPN11):c.1174G>A (p.Ala392Thr) rs774356443 0.00003
NM_002834.5(PTPN11):c.1327C>T (p.His443Tyr) rs779236638 0.00003
NM_002834.5(PTPN11):c.1642T>C (p.Ser548Pro) rs1057517907 0.00003
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp) rs143433437 0.00003
NM_002834.5(PTPN11):c.824A>C (p.Asn275Thr) rs397507528 0.00003
NM_002880.4(RAF1):c.1879C>T (p.Arg627Trp) rs730881005 0.00003
NM_002880.4(RAF1):c.1921A>G (p.Thr641Ala) rs1183812590 0.00003
NM_002880.4(RAF1):c.428G>A (p.Arg143Gln) rs750697353 0.00003
NM_002880.4(RAF1):c.53A>G (p.Lys18Arg) rs150944421 0.00003
NM_004333.6(BRAF):c.2140A>G (p.Ile714Val) rs555976452 0.00003
NM_004333.6(BRAF):c.977T>C (p.Ile326Thr) rs368435578 0.00003
NM_005188.4(CBL):c.1484C>T (p.Pro495Leu) rs373989524 0.00003
NM_005188.4(CBL):c.1676G>T (p.Arg559Leu) rs143034856 0.00003
NM_005188.4(CBL):c.1703C>T (p.Thr568Ile) rs762016318 0.00003
NM_005633.4(SOS1):c.1523A>G (p.Asn508Ser) rs751404198 0.00003
NM_005633.4(SOS1):c.1558G>A (p.Asp520Asn) rs754115060 0.00003
NM_005633.4(SOS1):c.1988T>C (p.Ile663Thr) rs1048869073 0.00003
NM_005633.4(SOS1):c.2987C>T (p.Pro996Leu) rs200747626 0.00003
NM_005633.4(SOS1):c.3697C>A (p.Leu1233Ile) rs777373438 0.00003
NM_005633.4(SOS1):c.3703C>T (p.Pro1235Ser) rs397517168 0.00003
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe) rs536611911 0.00003
NM_030662.4(MAP2K2):c.1190G>A (p.Arg397His) rs751040819 0.00003
NM_030662.4(MAP2K2):c.217G>A (p.Glu73Lys) rs187018595 0.00003
NM_030662.4(MAP2K2):c.391G>A (p.Val131Met) rs397517413 0.00003
NM_030662.4(MAP2K2):c.527C>T (p.Ala176Val) rs775661458 0.00003
NM_030662.4(MAP2K2):c.554G>A (p.Arg185Gln) rs772139417 0.00003
NM_030662.4(MAP2K2):c.581-3C>T rs754233409 0.00003
NM_030662.4(MAP2K2):c.884C>T (p.Ser295Leu) rs531584619 0.00003
NM_030662.4(MAP2K2):c.918C>T (p.Ser306=) rs777196833 0.00003
NM_002755.4(MAP2K1):c.1062A>C (p.Gln354His) rs750035241 0.00002
NM_002755.4(MAP2K1):c.1135A>G (p.Ile379Val) rs373794940 0.00002
NM_002755.4(MAP2K1):c.1138G>A (p.Gly380Ser) rs750934083 0.00002
NM_002755.4(MAP2K1):c.1177G>A (p.Val393Ile) rs200442489 0.00002
NM_002834.5(PTPN11):c.1162G>A (p.Val388Ile) rs749523268 0.00002
NM_002834.5(PTPN11):c.1190C>T (p.Thr397Met) rs767503386 0.00002
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) rs201247699 0.00002
NM_002834.5(PTPN11):c.1345A>G (p.Ile449Val) rs746112827 0.00002
NM_002834.5(PTPN11):c.1468G>A (p.Val490Ile) rs781083623 0.00002
NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys) rs587778634 0.00002
NM_002834.5(PTPN11):c.1649C>T (p.Ala550Val) rs767712281 0.00002
NM_002834.5(PTPN11):c.455G>A (p.Arg152His) rs397507521 0.00002
NM_002834.5(PTPN11):c.461G>C (p.Gly154Ala) rs376027245 0.00002
NM_002834.5(PTPN11):c.487G>A (p.Gly163Ser) rs730880992 0.00002
NM_002880.4(RAF1):c.293T>C (p.Val98Ala) rs763559779 0.00002
NM_002880.4(RAF1):c.313C>G (p.His105Asp) rs397516818 0.00002
NM_002880.4(RAF1):c.622G>C (p.Ala208Pro) rs767628398 0.00002
NM_002880.4(RAF1):c.793A>G (p.Met265Val) rs533494009 0.00002
NM_002880.4(RAF1):c.819C>G (p.Asp273Glu) rs771675427 0.00002
NM_002880.4(RAF1):c.952C>T (p.Arg318Trp) rs759433668 0.00002
NM_004333.6(BRAF):c.1144T>A (p.Leu382Met) rs147732750 0.00002
NM_004333.6(BRAF):c.1165C>T (p.Arg389Cys) rs397507472 0.00002
NM_004333.6(BRAF):c.240+6C>T rs1320075163 0.00002
NM_004333.6(BRAF):c.61G>C (p.Gly21Arg) rs587778113 0.00002
NM_004985.5(KRAS):c.491G>A (p.Arg164Gln) rs372793780 0.00002
NM_005188.4(CBL):c.1211G>A (p.Cys404Tyr) rs192712314 0.00002
NM_005188.4(CBL):c.1394A>T (p.Asp465Val) rs770644035 0.00002
NM_005188.4(CBL):c.1463C>T (p.Ala488Val) rs377502790 0.00002
NM_005188.4(CBL):c.1468C>G (p.Gln490Glu) rs1368426444 0.00002
NM_005188.4(CBL):c.1651C>T (p.Pro551Ser) rs200305176 0.00002
NM_005188.4(CBL):c.1783A>G (p.Ile595Val) rs775675805 0.00002
NM_005188.4(CBL):c.2153G>A (p.Arg718Gln) rs144894769 0.00002
NM_005188.4(CBL):c.2189C>T (p.Thr730Met) rs376848406 0.00002
NM_005188.4(CBL):c.2287G>A (p.Gly763Ser) rs1454216416 0.00002
NM_005188.4(CBL):c.2350G>A (p.Val784Met) rs140725852 0.00002
NM_005188.4(CBL):c.2485C>T (p.Arg829Trp) rs761245258 0.00002
NM_005188.4(CBL):c.2678G>A (p.Arg893Gln) rs751198294 0.00002
NM_005188.4(CBL):c.286C>T (p.Arg96Cys) rs147438359 0.00002
NM_005188.4(CBL):c.446G>A (p.Arg149Gln) rs199739868 0.00002
NM_005188.4(CBL):c.560C>T (p.Ala187Val) rs587778162 0.00002
NM_005188.4(CBL):c.664A>C (p.Met222Leu) rs773611782 0.00002
NM_005188.4(CBL):c.698A>G (p.Asn233Ser) rs143276937 0.00002
NM_005188.4(CBL):c.838C>T (p.Arg280Trp) rs730880432 0.00002
NM_005633.4(SOS1):c.1010A>G (p.Tyr337Cys) rs724160007 0.00002
NM_005633.4(SOS1):c.1202+5A>G rs1021449471 0.00002
NM_005633.4(SOS1):c.169A>T (p.Asn57Tyr) rs765764610 0.00002
NM_005633.4(SOS1):c.1892A>T (p.Tyr631Phe) rs770664679 0.00002
NM_005633.4(SOS1):c.2138G>A (p.Arg713Gln) rs483352826 0.00002
NM_005633.4(SOS1):c.2369T>C (p.Leu790Ser) rs139859866 0.00002
NM_005633.4(SOS1):c.2513G>A (p.Cys838Tyr) rs747801798 0.00002
NM_005633.4(SOS1):c.2567T>C (p.Ile856Thr) rs778865680 0.00002
NM_005633.4(SOS1):c.3502C>G (p.Pro1168Ala) rs756406841 0.00002
NM_005633.4(SOS1):c.3821C>G (p.Pro1274Arg) rs886041565 0.00002
NM_007373.4(SHOC2):c.1337A>G (p.Asn446Ser) rs730881017 0.00002
NM_007373.4(SHOC2):c.1633A>G (p.Ile545Val) rs778280516 0.00002
NM_007373.4(SHOC2):c.1738G>A (p.Ala580Thr) rs1234368339 0.00002
NM_007373.4(SHOC2):c.428G>A (p.Gly143Glu) rs750480407 0.00002
NM_007373.4(SHOC2):c.961A>G (p.Thr321Ala) rs779218281 0.00002
NM_030662.4(MAP2K2):c.1163G>A (p.Arg388Gln) rs749615795 0.00002
NM_030662.4(MAP2K2):c.1189C>T (p.Arg397Cys) rs730880516 0.00002
NM_030662.4(MAP2K2):c.239C>T (p.Ala80Val) rs142271248 0.00002
NM_030662.4(MAP2K2):c.326C>T (p.Pro109Leu) rs544242665 0.00002
NM_030662.4(MAP2K2):c.449T>C (p.Met150Thr) rs1441349097 0.00002
NM_030662.4(MAP2K2):c.485C>T (p.Ala162Val) rs376299424 0.00002
NM_030662.4(MAP2K2):c.491G>T (p.Arg164Met) rs751317148 0.00002
NM_030662.4(MAP2K2):c.528G>A (p.Ala176=) rs767939999 0.00002
NM_030662.4(MAP2K2):c.535C>T (p.Arg179Trp) rs370799450 0.00002
NM_030662.4(MAP2K2):c.692G>A (p.Arg231His) rs730880511 0.00002
NM_030662.4(MAP2K2):c.919G>A (p.Gly307Ser) rs1469141139 0.00002
NM_030662.4(MAP2K2):c.952A>G (p.Ile318Val) rs1064797064 0.00002
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473 0.00002
NC_000007.14:g.140834866C>T rs753354016 0.00001
NC_000007.14:g.140850170T>C rs1265063696 0.00001
NM_002524.5(NRAS):c.250A>G (p.Ile84Val) rs376177995 0.00001
NM_002524.5(NRAS):c.291-3T>C rs767679721 0.00001
NM_002524.5(NRAS):c.299T>C (p.Ile100Thr) rs1428145562 0.00001
NM_002524.5(NRAS):c.331A>G (p.Met111Val) rs776195467 0.00001
NM_002524.5(NRAS):c.434C>T (p.Ser145Leu) rs1163400692 0.00001
NM_002524.5(NRAS):c.464C>T (p.Ala155Val) rs747080102 0.00001
NM_002524.5(NRAS):c.490C>T (p.Arg164Cys) rs1658971260 0.00001
NM_002755.4(MAP2K1):c.1039G>A (p.Ala347Thr) rs746354996 0.00001
NM_002755.4(MAP2K1):c.1066A>G (p.Met356Val) rs1009731985 0.00001
NM_002755.4(MAP2K1):c.1115C>T (p.Ala372Val) rs1893220987 0.00001
NM_002755.4(MAP2K1):c.1130C>T (p.Ser377Phe) rs371140798 0.00001
NM_002755.4(MAP2K1):c.1172C>T (p.Ala391Val) rs896594939 0.00001
NM_002755.4(MAP2K1):c.11A>G (p.Lys4Arg) rs761150136 0.00001
NM_002755.4(MAP2K1):c.251A>G (p.Lys84Arg) rs774932586 0.00001
NM_002755.4(MAP2K1):c.427A>G (p.Met143Val) rs533695080 0.00001
NM_002755.4(MAP2K1):c.492A>G (p.Gln164=) rs140822439 0.00001
NM_002755.4(MAP2K1):c.631G>A (p.Val211Ile) rs727505206 0.00001
NM_002755.4(MAP2K1):c.71G>C (p.Ser24Thr) rs1290055913 0.00001
NM_002755.4(MAP2K1):c.772G>A (p.Val258Ile) rs753236280 0.00001
NM_002755.4(MAP2K1):c.871A>G (p.Arg291Gly) rs747807884 0.00001
NM_002755.4(MAP2K1):c.939G>C (p.Leu313Phe) rs1361965478 0.00001
NM_002755.4(MAP2K1):c.961C>T (p.Pro321Ser) rs771613524 0.00001
NM_002834.5(PTPN11):c.1004A>C (p.Gln335Pro) rs886041622 0.00001
NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala) rs146571700 0.00001
NM_002834.5(PTPN11):c.1124A>G (p.Tyr375Cys) rs41299183 0.00001
NM_002834.5(PTPN11):c.115G>A (p.Gly39Arg) rs886041585 0.00001
NM_002834.5(PTPN11):c.1290C>A (p.Ser430Arg) rs1178602062 0.00001
NM_002834.5(PTPN11):c.1366G>A (p.Val456Met) rs397516796 0.00001
NM_002834.5(PTPN11):c.14+6G>A rs1244171867 0.00001
NM_002834.5(PTPN11):c.1547T>C (p.Met516Thr) rs994514579 0.00001
NM_002834.5(PTPN11):c.1676C>G (p.Pro559Arg) rs1253971623 0.00001
NM_002834.5(PTPN11):c.1696A>T (p.Thr566Ser) rs746712068 0.00001
NM_002834.5(PTPN11):c.1697C>T (p.Thr566Met) rs150730493 0.00001
NM_002834.5(PTPN11):c.1715T>C (p.Met572Thr) rs1415602777 0.00001
NM_002834.5(PTPN11):c.244A>G (p.Met82Val) rs397507515 0.00001
NM_002834.5(PTPN11):c.289G>C (p.Glu97Gln) rs397507516 0.00001
NM_002834.5(PTPN11):c.34A>G (p.Thr12Ala) rs1386827892 0.00001
NM_002834.5(PTPN11):c.440T>G (p.Phe147Cys) rs1179862540 0.00001
NM_002834.5(PTPN11):c.518G>A (p.Arg173His) rs369155025 0.00001
NM_002834.5(PTPN11):c.563A>G (p.Asp188Gly) rs1436513335 0.00001
NM_002834.5(PTPN11):c.583G>A (p.Glu195Lys) rs1181200121 0.00001
NM_002834.5(PTPN11):c.642G>A (p.Gln214=) rs876661383 0.00001
NM_002834.5(PTPN11):c.652A>T (p.Thr218Ser) rs768555552 0.00001
NM_002834.5(PTPN11):c.860A>C (p.His287Pro) rs2038527071 0.00001
NM_002834.5(PTPN11):c.931A>G (p.Met311Val) rs774939392 0.00001
NM_002834.5(PTPN11):c.967C>A (p.Pro323Thr) rs779400765 0.00001
NM_002834.5(PTPN11):c.983T>C (p.Ile328Thr) rs369430257 0.00001
NM_002880.4(RAF1):c.1050G>T (p.Met350Ile) rs368860450 0.00001
NM_002880.4(RAF1):c.1061G>A (p.Arg354Gln) rs906171410 0.00001
NM_002880.4(RAF1):c.1063A>G (p.Ile355Val) rs727504719 0.00001
NM_002880.4(RAF1):c.1150C>G (p.Pro384Ala) rs140788943 0.00001
NM_002880.4(RAF1):c.1194-3C>T rs1223755089 0.00001
NM_002880.4(RAF1):c.1297C>G (p.Leu433Val) rs368676608 0.00001
NM_002880.4(RAF1):c.1334T>G (p.Leu445Arg) rs757591797 0.00001
NM_002880.4(RAF1):c.1355C>T (p.Thr452Met) rs555781462 0.00001
NM_002880.4(RAF1):c.1371-3C>T rs2058369542 0.00001
NM_002880.4(RAF1):c.1553G>A (p.Arg518Gln) rs149580968 0.00001
NM_002880.4(RAF1):c.1657A>C (p.Asn553His) rs745876012 0.00001
NM_002880.4(RAF1):c.1685G>T (p.Gly562Val) rs746937683 0.00001
NM_002880.4(RAF1):c.1687C>T (p.Arg563Ter) rs532786413 0.00001
NM_002880.4(RAF1):c.1688G>A (p.Arg563Gln) rs727504827 0.00001
NM_002880.4(RAF1):c.1741A>G (p.Met581Val) rs752063874 0.00001
NM_002880.4(RAF1):c.1768A>G (p.Lys590Glu) rs763060701 0.00001
NM_002880.4(RAF1):c.1807C>A (p.Leu603Met) rs1420280008 0.00001
NM_002880.4(RAF1):c.1835C>G (p.Ser612Cys) rs1319525639 0.00001
NM_002880.4(RAF1):c.1850A>G (p.Asn617Ser) rs933142627 0.00001
NM_002880.4(RAF1):c.1852C>T (p.Arg618Trp) rs757290878 0.00001
NM_002880.4(RAF1):c.1877A>G (p.His626Arg) rs1553609795 0.00001
NM_002880.4(RAF1):c.1901T>C (p.Ile634Thr) rs1013186582 0.00001
NM_002880.4(RAF1):c.1904A>G (p.Asn635Ser) rs772585174 0.00001
NM_002880.4(RAF1):c.1910G>A (p.Cys637Tyr) rs769639669 0.00001
NM_002880.4(RAF1):c.1928C>T (p.Pro643Leu) rs1382398408 0.00001
NM_002880.4(RAF1):c.1939G>A (p.Val647Ile) rs730881008 0.00001
NM_002880.4(RAF1):c.23G>C (p.Trp8Ser) rs780550449 0.00001
NM_002880.4(RAF1):c.262G>T (p.Val88Leu) rs1559438429 0.00001
NM_002880.4(RAF1):c.29C>T (p.Thr10Met) rs144637992 0.00001
NM_002880.4(RAF1):c.31A>T (p.Ile11Phe) rs779001930 0.00001
NM_002880.4(RAF1):c.321T>C (p.Gly107=) rs201937982 0.00001
NM_002880.4(RAF1):c.331C>T (p.Arg111Cys) rs773801570 0.00001
NM_002880.4(RAF1):c.41G>A (p.Gly14Asp) rs757333753 0.00001
NM_002880.4(RAF1):c.434C>T (p.Thr145Met) rs762448032 0.00001
NM_002880.4(RAF1):c.462C>G (p.Ile154Met) rs367732360 0.00001
NM_002880.4(RAF1):c.482A>G (p.Asn161Ser) rs775781057 0.00001
NM_002880.4(RAF1):c.536A>G (p.Lys179Arg) rs1271531726 0.00001
NM_002880.4(RAF1):c.589C>G (p.Pro197Ala) rs563575013 0.00001
NM_002880.4(RAF1):c.601A>G (p.Ile201Val) rs757700986 0.00001
NM_002880.4(RAF1):c.676G>A (p.Val226Ile) rs746448519 0.00001
NM_002880.4(RAF1):c.67G>A (p.Asp23Asn) rs2059451949 0.00001
NM_002880.4(RAF1):c.683C>G (p.Ser228Cys) rs766437069 0.00001
NM_002880.4(RAF1):c.709G>A (p.Ala237Thr) rs587777588 0.00001
NM_002880.4(RAF1):c.70G>A (p.Gly24Ser) rs1019217338 0.00001
NM_002880.4(RAF1):c.791A>T (p.His264Leu) rs1057517887 0.00001
NM_002880.4(RAF1):c.835G>A (p.Asp279Asn) rs368796800 0.00001
NM_002880.4(RAF1):c.845G>A (p.Arg282Gln) rs752713997 0.00001
NM_002880.4(RAF1):c.863C>T (p.Ala288Val) rs373658870 0.00001
NM_002880.4(RAF1):c.884G>C (p.Ser295Thr) rs191560404 0.00001
NM_002880.4(RAF1):c.88C>T (p.Pro30Ser) rs765857063 0.00001
NM_002880.4(RAF1):c.898C>A (p.Leu300Met) rs1183645997 0.00001
NM_002880.4(RAF1):c.915G>T (p.Trp305Cys) rs774670909 0.00001
NM_002880.4(RAF1):c.953G>A (p.Arg318Gln) rs757937109 0.00001
NM_002880.4(RAF1):c.997C>T (p.Arg333Cys) rs551466727 0.00001
NM_004333.6(BRAF):c.1027C>T (p.Pro343Ser) rs758935249 0.00001
NM_004333.6(BRAF):c.1061G>A (p.Arg354Gln) rs1158980679 0.00001
NM_004333.6(BRAF):c.107C>T (p.Ser36Phe) rs886041827 0.00001
NM_004333.6(BRAF):c.112G>C (p.Ala38Pro) rs1011563467 0.00001
NM_004333.6(BRAF):c.113C>T (p.Ala38Val) rs886042293 0.00001
NM_004333.6(BRAF):c.1166G>A (p.Arg389His) rs577372072 0.00001
NM_004333.6(BRAF):c.1168G>A (p.Gly390Ser) rs886041424 0.00001
NM_004333.6(BRAF):c.1237G>A (p.Val413Met) rs377093637 0.00001
NM_004333.6(BRAF):c.1369A>T (p.Ile457Phe) rs1008100536 0.00001
NM_004333.6(BRAF):c.1673G>A (p.Arg558Gln) rs1278812236 0.00001
NM_004333.6(BRAF):c.1690A>G (p.Met564Val) rs745783052 0.00001
NM_004333.6(BRAF):c.2015G>T (p.Gly672Val) rs1428696172 0.00001
NM_004333.6(BRAF):c.2029G>A (p.Asp677Asn) rs886041260 0.00001
NM_004333.6(BRAF):c.2156G>A (p.Arg719His) rs368528867 0.00001
NM_004333.6(BRAF):c.2265C>G (p.Ile755Met) rs763340034 0.00001
NM_004333.6(BRAF):c.2279A>G (p.Tyr760Cys) rs1305119093 0.00001
NM_004333.6(BRAF):c.229A>G (p.Ile77Val) rs764408896 0.00001
NM_004333.6(BRAF):c.254A>G (p.Tyr85Cys) rs1131691387 0.00001
NM_004333.6(BRAF):c.26G>C (p.Gly9Ala) rs1211436028 0.00001
NM_004333.6(BRAF):c.280C>A (p.Gln94Lys) rs1002421360 0.00001
NM_004333.6(BRAF):c.316G>A (p.Gly106Arg) rs749247588 0.00001
NM_004333.6(BRAF):c.358G>A (p.Val120Ile) rs766748977 0.00001
NM_004333.6(BRAF):c.35C>T (p.Ala12Val) rs1818678707 0.00001
NM_004333.6(BRAF):c.365C>A (p.Ser122Tyr) rs397507462 0.00001
NM_004333.6(BRAF):c.41C>G (p.Pro14Arg) rs397507455 0.00001
NM_004333.6(BRAF):c.41C>T (p.Pro14Leu) rs397507455 0.00001
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012 0.00001
NM_004333.6(BRAF):c.439A>G (p.Ser147Gly) rs397507464 0.00001
NM_004333.6(BRAF):c.533G>A (p.Arg178Gln) rs746348396 0.00001
NM_004333.6(BRAF):c.58A>G (p.Asn20Asp) rs1321934224 0.00001
NM_004333.6(BRAF):c.608+4T>C rs757973379 0.00001
NM_004333.6(BRAF):c.612G>C (p.Glu204Asp) rs1202874043 0.00001
NM_004333.6(BRAF):c.79G>A (p.Ala27Thr) rs1247014863 0.00001
NM_004333.6(BRAF):c.89G>A (p.Gly30Asp) rs1273585752 0.00001
NM_004333.6(BRAF):c.901C>T (p.Pro301Ser) rs34776339 0.00001
NM_004333.6(BRAF):c.929C>T (p.Thr310Ile) rs757803696 0.00001
NM_004333.6(BRAF):c.974C>G (p.Ser325Cys) rs1238788540 0.00001
NM_004333.6(BRAF):c.992T>C (p.Leu331Pro) rs372915332 0.00001
NM_004985.5(KRAS):c.16C>G (p.Leu6Val) rs1296330213 0.00001
NM_004985.5(KRAS):c.322G>T (p.Asp108Tyr) rs763553461 0.00001
NM_004985.5(KRAS):c.407G>A (p.Ser136Asn) rs757816355 0.00001
NM_004985.5(KRAS):c.487A>G (p.Ile163Val) rs1470495974 0.00001
NM_004985.5(KRAS):c.536A>G (p.Lys179Arg) rs763736188 0.00001
NM_005188.4(CBL):c.1027C>T (p.Arg343Ter) rs765471101 0.00001
NM_005188.4(CBL):c.1028G>A (p.Arg343Gln) rs759585425 0.00001
NM_005188.4(CBL):c.1074A>G (p.Gln358=) rs1060500678 0.00001
NM_005188.4(CBL):c.1094A>G (p.Gln365Arg) rs756742202 0.00001
NM_005188.4(CBL):c.1217C>T (p.Thr406Ile) rs757834577 0.00001
NM_005188.4(CBL):c.1227+5G>A rs756550704 0.00001
NM_005188.4(CBL):c.1240C>G (p.Gln414Glu) rs1268484791 0.00001
NM_005188.4(CBL):c.124C>T (p.His42Tyr) rs368813067 0.00001
NM_005188.4(CBL):c.1277C>T (p.Thr426Ile) rs769547118 0.00001
NM_005188.4(CBL):c.1282C>T (p.Pro428Ser) rs762677807 0.00001
NM_005188.4(CBL):c.1288G>A (p.Val430Met) rs991981291 0.00001
NM_005188.4(CBL):c.1298C>T (p.Pro433Leu) rs140627020 0.00001
NM_005188.4(CBL):c.1324C>A (p.Leu442Met) rs200508558 0.00001
NM_005188.4(CBL):c.1364A>G (p.Tyr455Cys) rs1565872426 0.00001
NM_005188.4(CBL):c.1399C>G (p.Leu467Val) rs771673435 0.00001
NM_005188.4(CBL):c.1424G>T (p.Gly475Val) rs200054267 0.00001
NM_005188.4(CBL):c.1460T>C (p.Met487Thr) rs995860476 0.00001
NM_005188.4(CBL):c.1517G>T (p.Arg506Leu) rs746728465 0.00001
NM_005188.4(CBL):c.1529C>G (p.Pro510Arg) rs776055321 0.00001
NM_005188.4(CBL):c.1534A>G (p.Ser512Gly) rs1427688105 0.00001
NM_005188.4(CBL):c.1558T>C (p.Ser520Pro) rs371686364 0.00001
NM_005188.4(CBL):c.1622A>T (p.Asp541Val) rs147285276 0.00001
NM_005188.4(CBL):c.1637C>T (p.Pro546Leu) rs751274314 0.00001
NM_005188.4(CBL):c.1649G>A (p.Arg550Gln) rs1949973841 0.00001
NM_005188.4(CBL):c.1687C>T (p.Arg563Cys) rs768837912 0.00001
NM_005188.4(CBL):c.1688G>A (p.Arg563His) rs1423287961 0.00001
NM_005188.4(CBL):c.1694T>C (p.Leu565Ser) rs1174693367 0.00001
NM_005188.4(CBL):c.16A>C (p.Lys6Gln) rs746355406 0.00001
NM_005188.4(CBL):c.1735C>T (p.Pro579Ser) rs752260506 0.00001
NM_005188.4(CBL):c.1786C>T (p.Pro596Ser) rs1304284873 0.00001
NM_005188.4(CBL):c.1804G>T (p.Ala602Ser) rs1365230067 0.00001
NM_005188.4(CBL):c.1822C>A (p.Pro608Thr) rs763666786 0.00001
NM_005188.4(CBL):c.1849C>T (p.Arg617Trp) rs538013681 0.00001
NM_005188.4(CBL):c.184C>T (p.Leu62Phe) rs1459635883 0.00001
NM_005188.4(CBL):c.1891A>G (p.Arg631Gly) rs552590011 0.00001
NM_005188.4(CBL):c.1997C>T (p.Pro666Leu) rs1461378431 0.00001
NM_005188.4(CBL):c.2012A>G (p.Asn671Ser) rs760168148 0.00001
NM_005188.4(CBL):c.202C>T (p.Arg68Trp) rs730880429 0.00001
NM_005188.4(CBL):c.2044C>G (p.Pro682Ala) rs764430929 0.00001
NM_005188.4(CBL):c.2053A>G (p.Lys685Glu) rs1555027603 0.00001
NM_005188.4(CBL):c.2062C>T (p.Pro688Ser) rs730880428 0.00001
NM_005188.4(CBL):c.2108C>T (p.Pro703Leu) rs368798262 0.00001
NM_005188.4(CBL):c.2125C>T (p.Arg709Trp) rs587778155 0.00001
NM_005188.4(CBL):c.2155G>A (p.Ala719Thr) rs757126995 0.00001
NM_005188.4(CBL):c.2227T>C (p.Ser743Pro) rs759665371 0.00001
NM_005188.4(CBL):c.2230A>G (p.Ile744Val) rs1422371091 0.00001
NM_005188.4(CBL):c.227C>T (p.Ala76Val) rs757898729 0.00001
NM_005188.4(CBL):c.2308G>A (p.Glu770Lys) rs749595774 0.00001
NM_005188.4(CBL):c.2318G>A (p.Gly773Glu) rs1241925405 0.00001
NM_005188.4(CBL):c.2339C>T (p.Pro780Leu) rs1401610037 0.00001
NM_005188.4(CBL):c.2366C>T (p.Thr789Ile) rs757530036 0.00001
NM_005188.4(CBL):c.2389A>C (p.Ser797Arg) rs138151048 0.00001
NM_005188.4(CBL):c.2390G>C (p.Ser797Thr) rs747073805 0.00001
NM_005188.4(CBL):c.2393C>T (p.Ser798Phe) rs587778158 0.00001
NM_005188.4(CBL):c.23G>A (p.Ser8Asn) rs930860175 0.00001
NM_005188.4(CBL):c.2401G>T (p.Gly801Cys) rs1465141746 0.00001
NM_005188.4(CBL):c.2414_2416dup (p.Leu805_Asp806insVal) rs777761446 0.00001
NM_005188.4(CBL):c.2432C>T (p.Thr811Ile) rs749068285 0.00001
NM_005188.4(CBL):c.2433A>G (p.Thr811=) rs200566020 0.00001
NM_005188.4(CBL):c.2458C>G (p.Pro820Ala) rs1356499832 0.00001
NM_005188.4(CBL):c.2503C>T (p.Arg835Trp) rs368696716 0.00001
NM_005188.4(CBL):c.2515A>G (p.Ser839Gly) rs748936051 0.00001
NM_005188.4(CBL):c.2530A>C (p.Ser844Arg) rs587778159 0.00001
NM_005188.4(CBL):c.2533G>A (p.Gly845Ser) rs997859448 0.00001
NM_005188.4(CBL):c.2537C>T (p.Pro846Leu) rs771831548 0.00001
NM_005188.4(CBL):c.2557G>A (p.Ala853Thr) rs1393832618 0.00001
NM_005188.4(CBL):c.2584G>A (p.Glu862Lys) rs397507498 0.00001
NM_005188.4(CBL):c.2612A>G (p.Tyr871Cys) rs1237783221 0.00001
NM_005188.4(CBL):c.2656G>A (p.Glu886Lys) rs1435757249 0.00001
NM_005188.4(CBL):c.2692A>G (p.Ile898Val) rs397507499 0.00001
NM_005188.4(CBL):c.271A>G (p.Thr91Ala) rs587778160 0.00001
NM_005188.4(CBL):c.292A>G (p.Ile98Val) rs1415440583 0.00001
NM_005188.4(CBL):c.41G>A (p.Gly14Asp) rs868791422 0.00001
NM_005188.4(CBL):c.469A>G (p.Ile157Val) rs730880430 0.00001
NM_005188.4(CBL):c.511A>G (p.Ser171Gly) rs1358074406 0.00001
NM_005188.4(CBL):c.572G>C (p.Arg191Thr) rs756736832 0.00001
NM_005188.4(CBL):c.578C>T (p.Ala193Val) rs749633193 0.00001
NM_005188.4(CBL):c.611G>C (p.Ser204Thr) rs759082853 0.00001
NM_005188.4(CBL):c.625C>G (p.Leu209Val) rs767162260 0.00001
NM_005188.4(CBL):c.691A>G (p.Thr231Ala) rs1457872297 0.00001
NM_005188.4(CBL):c.755C>G (p.Ser252Cys) rs1477764968 0.00001
NM_005188.4(CBL):c.805A>G (p.Met269Val) rs372452974 0.00001
NM_005188.4(CBL):c.826G>A (p.Glu276Lys) rs755244263 0.00001
NM_005188.4(CBL):c.829G>T (p.Val277Leu) rs1439017220 0.00001
NM_005188.4(CBL):c.839G>A (p.Arg280Gln) rs145155035 0.00001
NM_005188.4(CBL):c.93C>A (p.Asp31Glu) rs376679438 0.00001
NM_005633.4(SOS1):c.1000G>A (p.Ala334Thr) rs765820430 0.00001
NM_005633.4(SOS1):c.1007A>G (p.Gln336Arg) rs765028553 0.00001
NM_005633.4(SOS1):c.1170A>G (p.Ile390Met) rs1380491347 0.00001
NM_005633.4(SOS1):c.1202+3G>A rs904487658 0.00001
NM_005633.4(SOS1):c.1266G>A (p.Met422Ile) rs1212129369 0.00001
NM_005633.4(SOS1):c.127G>C (p.Asp43His) rs730881052 0.00001
NM_005633.4(SOS1):c.1303A>G (p.Lys435Glu) rs138920742 0.00001
NM_005633.4(SOS1):c.1385T>A (p.Phe462Tyr) rs730881043 0.00001
NM_005633.4(SOS1):c.143T>C (p.Val48Ala) rs373898570 0.00001
NM_005633.4(SOS1):c.1564A>C (p.Asn522His) rs761094509 0.00001
NM_005633.4(SOS1):c.1568G>A (p.Ser523Asn) rs1156669922 0.00001
NM_005633.4(SOS1):c.1627T>C (p.Ser543Pro) rs981234810 0.00001
NM_005633.4(SOS1):c.1640G>A (p.Arg547Gln) rs149775695 0.00001
NM_005633.4(SOS1):c.1768G>A (p.Glu590Lys) rs730881047 0.00001
NM_005633.4(SOS1):c.1828A>G (p.Ile610Val) rs763425122 0.00001
NM_005633.4(SOS1):c.1931T>C (p.Ile644Thr) rs769891933 0.00001
NM_005633.4(SOS1):c.199G>A (p.Ala67Thr) rs730881053 0.00001
NM_005633.4(SOS1):c.2012G>C (p.Ser671Thr) rs1060503525 0.00001
NM_005633.4(SOS1):c.2089G>T (p.Val697Leu) rs966388444 0.00001
NM_005633.4(SOS1):c.2097C>A (p.His699Gln) rs765074047 0.00001
NM_005633.4(SOS1):c.2105A>G (p.Tyr702Cys) rs757094189 0.00001
NM_005633.4(SOS1):c.2137C>A (p.Arg713=) rs1572822400 0.00001
NM_005633.4(SOS1):c.2279C>T (p.Thr760Ile) rs730881027 0.00001
NM_005633.4(SOS1):c.2344A>G (p.Ile782Val) rs778580742 0.00001
NM_005633.4(SOS1):c.2351T>C (p.Ile784Thr) rs1335137808 0.00001
NM_005633.4(SOS1):c.23A>G (p.Tyr8Cys) rs781093356 0.00001
NM_005633.4(SOS1):c.2489A>G (p.Asn830Ser) rs397517158 0.00001
NM_005633.4(SOS1):c.2684G>A (p.Ser895Asn) rs1164976822 0.00001
NM_005633.4(SOS1):c.2728G>C (p.Asp910His) rs369277679 0.00001
NM_005633.4(SOS1):c.2945G>A (p.Arg982Gln) rs1553351453 0.00001
NM_005633.4(SOS1):c.2998A>T (p.Ser1000Cys) rs730881031 0.00001
NM_005633.4(SOS1):c.2999G>A (p.Ser1000Asn) rs891035934 0.00001
NM_005633.4(SOS1):c.3197G>C (p.Ser1066Thr) rs1428068201 0.00001
NM_005633.4(SOS1):c.3229G>A (p.Ala1077Thr) rs775100470 0.00001
NM_005633.4(SOS1):c.3358G>A (p.Val1120Ile) rs368767111 0.00001
NM_005633.4(SOS1):c.3391+3T>C rs761579423 0.00001
NM_005633.4(SOS1):c.3413T>A (p.Ile1138Lys) rs1433351757 0.00001
NM_005633.4(SOS1):c.34A>T (p.Ser12Cys) rs751776207 0.00001
NM_005633.4(SOS1):c.3531C>A (p.Asp1177Glu) rs730881049 0.00001
NM_005633.4(SOS1):c.3602G>A (p.Arg1201Gln) rs1422169849 0.00001
NM_005633.4(SOS1):c.3662G>C (p.Arg1221Thr) rs768987761 0.00001
NM_005633.4(SOS1):c.3707C>T (p.Pro1236Leu) rs533661246 0.00001
NM_005633.4(SOS1):c.3721A>G (p.Lys1241Glu) rs367693130 0.00001
NM_005633.4(SOS1):c.3734G>T (p.Gly1245Val) rs397517169 0.00001
NM_005633.4(SOS1):c.3763C>A (p.Pro1255Thr) rs972166211 0.00001
NM_005633.4(SOS1):c.3772C>A (p.Pro1258Thr) rs956446097 0.00001
NM_005633.4(SOS1):c.3884G>A (p.Arg1295Gln) rs1668542997 0.00001
NM_005633.4(SOS1):c.464A>G (p.Tyr155Cys) rs1188280924 0.00001
NM_005633.4(SOS1):c.473C>T (p.Thr158Ile) rs776744951 0.00001
NM_005633.4(SOS1):c.560C>A (p.Ser187Tyr) rs730881038 0.00001
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241 0.00001
NM_005633.4(SOS1):c.643T>C (p.Tyr215His) rs730881039 0.00001
NM_005633.4(SOS1):c.688T>G (p.Phe230Val) rs397517177 0.00001
NM_005633.4(SOS1):c.754A>C (p.Ile252Leu) rs1158811958 0.00001
NM_005633.4(SOS1):c.835G>A (p.Val279Ile) rs188055807 0.00001
NM_005633.4(SOS1):c.847T>C (p.Phe283Leu) rs1222945881 0.00001
NM_005633.4(SOS1):c.864+3A>G rs201119821 0.00001
NM_005633.4(SOS1):c.985G>A (p.Glu329Lys) rs756679265 0.00001
NM_007373.4(SHOC2):c.1073A>G (p.Tyr358Cys) rs779128466 0.00001
NM_007373.4(SHOC2):c.1161+5G>T rs375479660 0.00001
NM_007373.4(SHOC2):c.1273G>A (p.Val425Ile) rs772835258 0.00001
NM_007373.4(SHOC2):c.1288C>T (p.Leu430Phe) rs730881022 0.00001
NM_007373.4(SHOC2):c.1417T>A (p.Leu473Ile) rs767686810 0.00001
NM_007373.4(SHOC2):c.1422+8T>G rs1267333219 0.00001
NM_007373.4(SHOC2):c.1425A>G (p.Lys475=) rs1483409374 0.00001
NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr) rs995403413 0.00001
NM_007373.4(SHOC2):c.1595G>C (p.Ser532Thr) rs370798940 0.00001
NM_007373.4(SHOC2):c.1600C>G (p.Pro534Ala) rs1060501926 0.00001
NM_007373.4(SHOC2):c.1660A>G (p.Ser554Gly) rs771053632 0.00001
NM_007373.4(SHOC2):c.1682T>C (p.Val561Ala) rs776628753 0.00001
NM_007373.4(SHOC2):c.169T>C (p.Ser57Pro) rs754709778 0.00001
NM_007373.4(SHOC2):c.1736G>A (p.Arg579His) rs1185910534 0.00001
NM_007373.4(SHOC2):c.1744G>A (p.Val582Ile) rs1564732203 0.00001
NM_007373.4(SHOC2):c.233C>T (p.Ala78Val) rs201197595 0.00001
NM_007373.4(SHOC2):c.332C>T (p.Ser111Phe) rs149084468 0.00001
NM_007373.4(SHOC2):c.445A>G (p.Met149Val) rs766550166 0.00001
NM_007373.4(SHOC2):c.52G>A (p.Val18Ile) rs1226932309 0.00001
NM_007373.4(SHOC2):c.574G>T (p.Asp192Tyr) rs769457449 0.00001
NM_007373.4(SHOC2):c.616A>G (p.Thr206Ala) rs370388274 0.00001
NM_007373.4(SHOC2):c.619G>A (p.Val207Met) rs998435032 0.00001
NM_007373.4(SHOC2):c.733G>A (p.Val245Ile) rs761636280 0.00001
NM_007373.4(SHOC2):c.743A>G (p.Asn248Ser) rs374067666 0.00001
NM_007373.4(SHOC2):c.757C>T (p.Leu253Phe) rs1196924389 0.00001
NM_007373.4(SHOC2):c.769A>G (p.Ile257Val) rs1476197124 0.00001
NM_007373.4(SHOC2):c.770T>C (p.Ile257Thr) rs1300537933 0.00001
NM_007373.4(SHOC2):c.842-3C>T rs1485718634 0.00001
NM_007373.4(SHOC2):c.920G>C (p.Ser307Thr) rs1848351785 0.00001
NM_030662.4(MAP2K2):c.1006G>A (p.Gly336Ser) rs1599282416 0.00001
NM_030662.4(MAP2K2):c.1010T>G (p.Val337Gly) rs1232245814 0.00001
NM_030662.4(MAP2K2):c.1022A>C (p.Asp341Ala) rs2040903643 0.00001
NM_030662.4(MAP2K2):c.1036G>A (p.Val346Ile) rs1015139062 0.00001
NM_030662.4(MAP2K2):c.1064C>T (p.Ala355Val) rs768826287 0.00001
NM_030662.4(MAP2K2):c.1092A>C (p.Thr364=) rs779378237 0.00001
NM_030662.4(MAP2K2):c.1138G>A (p.Ala380Thr) rs867823488 0.00001
NM_030662.4(MAP2K2):c.1141G>A (p.Gly381Ser) rs565860695 0.00001
NM_030662.4(MAP2K2):c.1177G>A (p.Gly393Ser) rs755887476 0.00001
NM_030662.4(MAP2K2):c.1180A>T (p.Thr394Ser) rs730880515 0.00001
NM_030662.4(MAP2K2):c.1195G>A (p.Ala399Thr) rs1382101858 0.00001
NM_030662.4(MAP2K2):c.247G>A (p.Gly83Ser) rs765755554 0.00001
NM_030662.4(MAP2K2):c.26T>C (p.Leu9Pro) rs758307267 0.00001
NM_030662.4(MAP2K2):c.333C>G (p.Ile111Met) rs2041142671 0.00001
NM_030662.4(MAP2K2):c.349C>T (p.Arg117Cys) rs749389113 0.00001
NM_030662.4(MAP2K2):c.370G>A (p.Glu124Lys) rs1037950431 0.00001
NM_030662.4(MAP2K2):c.388A>G (p.Ile130Val) rs1263759203 0.00001
NM_030662.4(MAP2K2):c.457G>A (p.Gly153Ser) rs772534863 0.00001
NM_030662.4(MAP2K2):c.499G>A (p.Glu167Lys) rs1457335620 0.00001
NM_030662.4(MAP2K2):c.514A>G (p.Lys172Glu) rs1413580671 0.00001
NM_030662.4(MAP2K2):c.553C>T (p.Arg185Ter) rs1390219813 0.00001
NM_030662.4(MAP2K2):c.556G>C (p.Glu186Gln) rs1469284383 0.00001
NM_030662.4(MAP2K2):c.611C>G (p.Ser204Cys) rs775668076 0.00001
NM_030662.4(MAP2K2):c.661G>A (p.Asp221Asn) rs2041001051 0.00001
NM_030662.4(MAP2K2):c.682G>A (p.Val228Met) rs999810842 0.00001
NM_030662.4(MAP2K2):c.689C>T (p.Thr230Met) rs369714097 0.00001
NM_030662.4(MAP2K2):c.707C>T (p.Pro236Leu) rs1309234276 0.00001
NM_030662.4(MAP2K2):c.811G>A (p.Asp271Asn) rs758031424 0.00001
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr) rs757240576 0.00001
NM_030662.4(MAP2K2):c.826G>C (p.Glu276Gln) rs889422963 0.00001
NM_030662.4(MAP2K2):c.842G>A (p.Arg281Gln) rs1332074575 0.00001
NM_030662.4(MAP2K2):c.907C>T (p.Arg303Cys) rs770521279 0.00001
NM_030662.4(MAP2K2):c.913G>A (p.Val305Ile) rs730880509 0.00001
NM_030662.4(MAP2K2):c.928A>G (p.Met310Val) rs766715536 0.00001
NM_030662.4(MAP2K2):c.937C>T (p.Arg313Trp) rs772831628 0.00001
NM_030662.4(MAP2K2):c.971A>G (p.Tyr324Cys) rs730880512 0.00001
NC_000001.10:g.(?_113456513)_(116311162_?)dup
NC_000001.10:g.(?_114437687)_(115576848_?)del
NC_000001.10:g.(?_115215735)_(115258781_?)dup
NC_000002.11:g.(?_38297845)_(39347583_?)dup
NC_000002.11:g.(?_39212965)_(39251298_?)dup
NC_000002.11:g.(?_39212965)_(39262661_?)del
NC_000002.11:g.(?_39249778)_(39255748_?)del
NC_000002.11:g.(?_39278265)_(39347563_?)del
NC_000002.11:g.(?_39278265)_(39347563_?)dup
NC_000002.11:g.(?_39278265)_(39347583_?)dup
NC_000002.11:g.(?_39283823)_(39347563_?)dup
NC_000002.11:g.(?_39294749)_(39347583_?)dup
NC_000002.11:g.(?_39347457)_(39347563_?)dup
NC_000003.11:g.(?_12558090)_(12629156_?)dup
NC_000003.11:g.(?_12626003)_(12660230_?)dup
NC_000003.11:g.(?_12626013)_(12633311_?)dup
NC_000003.11:g.(?_12626013)_(12660220_?)dup
NC_000003.11:g.(?_12627160)_(12627318_?)dup
NC_000003.11:g.(?_12629070)_(12660220_?)dup
NC_000003.11:g.(?_12632277)_(12633311_?)del
NC_000003.11:g.(?_12641170)_(12660220_?)dup
NC_000003.11:g.(?_12641190)_(12791339_?)dup
NC_000003.11:g.(?_12645615)_(12660220_?)dup
NC_000003.11:g.(?_12650245)_(12660220_?)dup
NC_000003.12:g.(?_12584504)_(12618731_?)del
NC_000003.12:g.(?_12590788)_(12591802_?)del
NC_000007.13:g.(?_138391369)_(141759786_?)del
NC_000007.13:g.(?_140434377)_(140534692_?)dup
NC_000007.13:g.(?_140434397)_(140534692_?)dup
NC_000007.13:g.(?_140434397)_(140550032_?)dup
NC_000007.13:g.(?_140434397)_(140624503_?)dup
NC_000007.13:g.(?_140476692)_(140494287_?)del
NC_000007.13:g.(?_140534389)_(140534692_?)del
NC_000007.13:g.(?_140624346)_(140624503_?)dup
NC_000007.14:g.(?_140734587)_(140924713_?)dup
NC_000007.14:g.140783152T>C rs397516886
NC_000007.14:g.140834677G>A rs769648920
NC_000010.10:g.(?_112540539)_(112837073_?)del
NC_000010.10:g.(?_112768986)_(112771576_?)del
NC_000011.9:g.(?_116691583)_(121500272_?)dup
NC_000011.9:g.(?_118967698)_(119170501_?)del
NC_000011.9:g.(?_118967708)_(119103425_?)dup
NC_000011.9:g.(?_119077108)_(120133495_?)dup
NC_000011.9:g.(?_119077128)_(119077342_?)del
NC_000011.9:g.(?_119077128)_(119077342_?)dup
NC_000011.9:g.(?_119077128)_(119142611_?)dup
NC_000011.9:g.(?_119077128)_(119170491_?)del
NC_000011.9:g.(?_119103138)_(119158676_?)del
NC_000011.9:g.(?_119144558)_(119156296_?)del
NC_000011.9:g.(?_119167608)_(119170491_?)dup
NC_000012.11:g.(?_112856896)_(112942588_?)dup
NC_000012.11:g.(?_112856916)_(112856949_?)dup
NC_000012.11:g.(?_112856916)_(112942568_?)dup
NC_000012.11:g.(?_112884060)_(112884222_?)del
NC_000012.11:g.(?_112910728)_(113008334_?)del
NC_000012.11:g.(?_112910728)_(113008334_?)dup
NC_000012.11:g.(?_112919858)_(112920029_?)del
NC_000012.11:g.(?_25362709)_(25398338_?)dup
NC_000012.11:g.(?_25362729)_(25362865_?)dup
NC_000012.11:g.(?_25362729)_(25380366_?)dup
NC_000012.11:g.(?_25362729)_(25398318_?)del
NC_000012.11:g.(?_25362729)_(25398318_?)dup
NC_000012.11:g.(?_25378528)_(25398318_?)dup
NC_000012.11:g.(?_25398188)_(25398318_?)dup
NC_000012.12:g.(?_112419092)_(112419145_?)dup
NC_000012.12:g.(?_25209775)_(25209931_?)del
NC_000015.10:g.(?_66387328)_(66444727_?)dup
NC_000015.9:g.(?_66679676)_(66782963_?)dup
NC_000015.9:g.(?_66679686)_(66679785_?)dup
NC_000015.9:g.(?_66679686)_(66729250_?)dup
NC_000015.9:g.(?_66736974)_(66737065_?)dup
NC_000015.9:g.(?_66774083)_(66782963_?)dup
NC_000015.9:g.(?_66780810)_(66782933_?)del
NC_000019.10:g.(?_4077099)_(4102463_?)del
NC_000019.10:g.(?_4097269)_(4097353_?)del
NC_000019.9:g.(?_2430909)_(4171966_?)del
NC_000019.9:g.(?_4077097)_(4123872_?)dup
NC_000019.9:g.(?_4077097)_(4123882_?)dup
NC_000019.9:g.(?_4090596)_(4090726_?)del
NC_000019.9:g.(?_4090596)_(4090726_?)dup
NC_000019.9:g.(?_4090596)_(4102471_?)del
NC_000019.9:g.(?_4090596)_(4171966_?)dup
NC_000019.9:g.(?_4094110)_(4102471_?)dup
NC_000019.9:g.(?_4094431)_(4123872_?)del
NC_000019.9:g.(?_4102354)_(4102471_?)del
NC_000019.9:g.(?_4110487)_(4171966_?)dup
NC_000019.9:g.(?_4123761)_(4123872_?)del
NM_002524.5(NRAS):c.107T>C (p.Ile36Thr)
NM_002524.5(NRAS):c.140A>G (p.Asp47Gly) rs1383166562
NM_002524.5(NRAS):c.152G>A (p.Cys51Tyr) rs1659099474
NM_002524.5(NRAS):c.166C>G (p.Leu56Val)
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.5(NRAS):c.18GGT[2] (p.Val9del)
NM_002524.5(NRAS):c.203G>C (p.Arg68Thr) rs1659097707
NM_002524.5(NRAS):c.22G>A (p.Val8Met) rs2101744314
NM_002524.5(NRAS):c.259A>T (p.Ser87Cys)
NM_002524.5(NRAS):c.25G>A (p.Val9Ile) rs1553244682
NM_002524.5(NRAS):c.260G>A (p.Ser87Asn) rs1385254281
NM_002524.5(NRAS):c.272C>T (p.Ala91Val) rs774832953
NM_002524.5(NRAS):c.283C>T (p.Leu95Phe)
NM_002524.5(NRAS):c.290+4C>T
NM_002524.5(NRAS):c.297G>T (p.Gln99His) rs941246661
NM_002524.5(NRAS):c.300T>G (p.Ile100Met) rs575693594
NM_002524.5(NRAS):c.305G>A (p.Arg102Gln)
NM_002524.5(NRAS):c.31G>A (p.Ala11Thr) rs1367788342
NM_002524.5(NRAS):c.320A>C (p.Asp107Ala) rs1570871503
NM_002524.5(NRAS):c.325G>A (p.Val109Ile)
NM_002524.5(NRAS):c.334G>T (p.Val112Leu) rs730880968
NM_002524.5(NRAS):c.356A>G (p.Asp119Gly)
NM_002524.5(NRAS):c.368G>A (p.Arg123Lys) rs727503347
NM_002524.5(NRAS):c.370A>G (p.Thr124Ala) rs747732620
NM_002524.5(NRAS):c.380C>T (p.Thr127Ile) rs779899354
NM_002524.5(NRAS):c.394G>A (p.Glu132Lys)
NM_002524.5(NRAS):c.404A>G (p.Lys135Arg)
NM_002524.5(NRAS):c.412G>A (p.Gly138Arg)
NM_002524.5(NRAS):c.41T>G (p.Val14Gly)
NM_002524.5(NRAS):c.421T>C (p.Phe141Leu)
NM_002524.5(NRAS):c.424A>G (p.Ile142Val)
NM_002524.5(NRAS):c.425T>C (p.Ile142Thr)
NM_002524.5(NRAS):c.430A>G (p.Thr144Ala)
NM_002524.5(NRAS):c.436G>A (p.Ala146Thr)
NM_002524.5(NRAS):c.441G>T (p.Lys147Asn)
NM_002524.5(NRAS):c.450+3A>G
NM_002524.5(NRAS):c.450+6G>A
NM_002524.5(NRAS):c.450+6G>T
NM_002524.5(NRAS):c.450G>C (p.Gln150His)
NM_002524.5(NRAS):c.454G>T (p.Val152Phe)
NM_002524.5(NRAS):c.461A>G (p.Asp154Gly) rs1429449890
NM_002524.5(NRAS):c.478G>A (p.Val160Ile) rs2101737856
NM_002524.5(NRAS):c.490C>A (p.Arg164Ser)
NM_002524.5(NRAS):c.499C>T (p.Arg167Ter) rs1658970955
NM_002524.5(NRAS):c.4A>G (p.Thr2Ala)
NM_002524.5(NRAS):c.524ATG[3] (p.Asp176_Gly177insAsp)
NM_002524.5(NRAS):c.526G>T (p.Asp176Tyr)
NM_002524.5(NRAS):c.539_*4+1del rs1658965835
NM_002524.5(NRAS):c.544A>T (p.Met182Leu)
NM_002524.5(NRAS):c.562G>T (p.Val188Leu) rs730880381
NM_002524.5(NRAS):c.65A>G (p.Gln22Arg) rs1570877514
NM_002755.4(MAP2K1):c.1004A>G (p.Gln335Arg) rs2140683019
NM_002755.4(MAP2K1):c.1008T>G (p.Asp336Glu)
NM_002755.4(MAP2K1):c.1022+6T>G
NM_002755.4(MAP2K1):c.1023-11_1023-4del
NM_002755.4(MAP2K1):c.1030A>C (p.Lys344Gln)
NM_002755.4(MAP2K1):c.1031_1034del (p.Lys344fs)
NM_002755.4(MAP2K1):c.1047A>C (p.Arg349Ser) rs1177367316
NM_002755.4(MAP2K1):c.1053T>A (p.Asp351Glu)
NM_002755.4(MAP2K1):c.1054T>G (p.Leu352Val)
NM_002755.4(MAP2K1):c.1067T>C (p.Met356Thr)
NM_002755.4(MAP2K1):c.1069-3C>T
NM_002755.4(MAP2K1):c.1072C>T (p.His358Tyr) rs1595889532
NM_002755.4(MAP2K1):c.1113T>G (p.Phe371Leu)
NM_002755.4(MAP2K1):c.1153A>G (p.Ser385Gly)
NM_002755.4(MAP2K1):c.1157C>T (p.Thr386Ile)
NM_002755.4(MAP2K1):c.1180dup (p.Ter394LeuextTer?) rs1893223775
NM_002755.4(MAP2K1):c.1181_*2del (p.Ter394CysextTer?) rs1595889609
NM_002755.4(MAP2K1):c.126TGA[1] (p.Asp43del) rs1555416037
NM_002755.4(MAP2K1):c.130_162del (p.Glu44_Leu54del) rs2140578690
NM_002755.4(MAP2K1):c.138del (p.Gln46fs)
NM_002755.4(MAP2K1):c.139C>T (p.Arg47Ter)
NM_002755.4(MAP2K1):c.140G>A (p.Arg47Gln) rs1567009054
NM_002755.4(MAP2K1):c.146G>A (p.Arg49His)
NM_002755.4(MAP2K1):c.149T>C (p.Leu50Pro) rs2140578834
NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln) rs397516790
NM_002755.4(MAP2K1):c.173A>G (p.Gln58Arg)
NM_002755.4(MAP2K1):c.198C>A (p.Asp66Glu) rs56200325
NM_002755.4(MAP2K1):c.205G>A (p.Glu69Lys) rs2093484413
NM_002755.4(MAP2K1):c.212T>C (p.Ile71Thr) rs2140579455
NM_002755.4(MAP2K1):c.212T>G (p.Ile71Ser) rs2140579455
NM_002755.4(MAP2K1):c.215G>A (p.Ser72Asn)
NM_002755.4(MAP2K1):c.238G>A (p.Gly80Ser) rs2140579691
NM_002755.4(MAP2K1):c.239G>A (p.Gly80Asp)
NM_002755.4(MAP2K1):c.247T>C (p.Phe83Leu)
NM_002755.4(MAP2K1):c.256T>A (p.Ser86Thr)
NM_002755.4(MAP2K1):c.265C>T (p.Pro89Ser)
NM_002755.4(MAP2K1):c.280A>G (p.Met94Val)
NM_002755.4(MAP2K1):c.319A>G (p.Ile107Val) rs1567009717
NM_002755.4(MAP2K1):c.31C>G (p.Leu11Val)
NM_002755.4(MAP2K1):c.323G>A (p.Arg108Gln) rs727504819
NM_002755.4(MAP2K1):c.365A>G (p.Asn122Ser)
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002755.4(MAP2K1):c.379G>A (p.Val127Met) rs1013906172
NM_002755.4(MAP2K1):c.383del (p.Gly128fs)
NM_002755.4(MAP2K1):c.404G>A (p.Ser135Asn)
NM_002755.4(MAP2K1):c.41C>T (p.Ala14Val)
NM_002755.4(MAP2K1):c.421A>G (p.Ile141Val) rs1189360966
NM_002755.4(MAP2K1):c.438+4T>A
NM_002755.4(MAP2K1):c.43C>G (p.Pro15Ala)
NM_002755.4(MAP2K1):c.43C>T (p.Pro15Ser) rs916502006
NM_002755.4(MAP2K1):c.460G>A (p.Val154Ile)
NM_002755.4(MAP2K1):c.482T>C (p.Ile161Thr) rs2140598095
NM_002755.4(MAP2K1):c.48C>A (p.Asp16Glu) rs1330053912
NM_002755.4(MAP2K1):c.490C>A (p.Gln164Lys) rs1891772126
NM_002755.4(MAP2K1):c.503A>G (p.Lys168Arg) rs886051366
NM_002755.4(MAP2K1):c.509G>A (p.Ser170Asn)
NM_002755.4(MAP2K1):c.516+1G>A rs1240248728
NM_002755.4(MAP2K1):c.516+3G>A
NM_002755.4(MAP2K1):c.517-1G>T
NM_002755.4(MAP2K1):c.529C>A (p.Leu177Met)
NM_002755.4(MAP2K1):c.551A>T (p.His184Leu)
NM_002755.4(MAP2K1):c.553A>G (p.Lys185Glu)
NM_002755.4(MAP2K1):c.556A>G (p.Ile186Val)
NM_002755.4(MAP2K1):c.568+6A>G rs1430324310
NM_002755.4(MAP2K1):c.596A>G (p.Asn199Ser)
NM_002755.4(MAP2K1):c.5C>G (p.Pro2Arg)
NM_002755.4(MAP2K1):c.612C>G (p.Ile204Met) rs2140667598
NM_002755.4(MAP2K1):c.633C>G (p.Val211=)
NM_002755.4(MAP2K1):c.637G>A (p.Gly213Arg)
NM_002755.4(MAP2K1):c.647T>C (p.Ile216Thr)
NM_002755.4(MAP2K1):c.649G>A (p.Asp217Asn)
NM_002755.4(MAP2K1):c.692C>G (p.Ser231Trp)
NM_002755.4(MAP2K1):c.693+4T>C
NM_002755.4(MAP2K1):c.709G>A (p.Gly237Arg)
NM_002755.4(MAP2K1):c.70A>G (p.Ser24Gly) rs2093344167
NM_002755.4(MAP2K1):c.724G>A (p.Val242Met)
NM_002755.4(MAP2K1):c.729G>T (p.Gln243His) rs772752167
NM_002755.4(MAP2K1):c.754T>G (p.Ser252Ala)
NM_002755.4(MAP2K1):c.770C>T (p.Ala257Val) rs1334665647
NM_002755.4(MAP2K1):c.772G>T (p.Val258Phe)
NM_002755.4(MAP2K1):c.77C>T (p.Ala26Val)
NM_002755.4(MAP2K1):c.793C>T (p.Pro265Ser) rs1567025858
NM_002755.4(MAP2K1):c.80+2T>C
NM_002755.4(MAP2K1):c.80+6T>C
NM_002755.4(MAP2K1):c.800A>T (p.Asp267Val)
NM_002755.4(MAP2K1):c.811C>G (p.Leu271Val)
NM_002755.4(MAP2K1):c.81G>A (p.Glu27=)
NM_002755.4(MAP2K1):c.836T>C (p.Val279Ala)
NM_002755.4(MAP2K1):c.842_844del (p.Gly281del)
NM_002755.4(MAP2K1):c.851C>A (p.Ala284Asp)
NM_002755.4(MAP2K1):c.853G>A (p.Glu285Lys) rs1893007795
NM_002755.4(MAP2K1):c.868C>A (p.Pro290Thr)
NM_002755.4(MAP2K1):c.86A>G (p.Asn29Ser)
NM_002755.4(MAP2K1):c.875C>G (p.Thr292Ser) rs397516794
NM_002755.4(MAP2K1):c.885G>T (p.Arg295Ser)
NM_002755.4(MAP2K1):c.894C>T (p.Ser298=) rs2140675493
NM_002755.4(MAP2K1):c.895+15G>A
NM_002755.4(MAP2K1):c.895+19C>A
NM_002755.4(MAP2K1):c.896-3T>C rs2140678872
NM_002755.4(MAP2K1):c.899A>G (p.Tyr300Cys)
NM_002755.4(MAP2K1):c.904A>C (p.Met302Leu) rs1023593707
NM_002755.4(MAP2K1):c.906G>T (p.Met302Ile)
NM_002755.4(MAP2K1):c.914G>A (p.Arg305Gln) rs1595887104
NM_002755.4(MAP2K1):c.917C>T (p.Pro306Leu) rs1555420826
NM_002755.4(MAP2K1):c.928A>G (p.Ile310Val)
NM_002755.4(MAP2K1):c.960+1G>T
NM_002755.4(MAP2K1):c.960+5G>A
NM_002755.4(MAP2K1):c.961-2A>G rs2140682916
NM_002755.4(MAP2K1):c.970A>C (p.Lys324Gln) rs762436311
NM_002755.4(MAP2K1):c.983_987del (p.Gly328fs)
NM_002755.4(MAP2K1):c.995T>A (p.Leu332Gln) rs1316044036
NM_002834.5(PTPN11):c.1018G>T (p.Asp340Tyr) rs2135901995
NM_002834.5(PTPN11):c.1027C>T (p.Arg343Trp) rs1373621596
NM_002834.5(PTPN11):c.1032G>A (p.Met344Ile) rs2038533623
NM_002834.5(PTPN11):c.1039C>A (p.Gln347Lys) rs2038533750
NM_002834.5(PTPN11):c.103A>G (p.Lys35Glu) rs934388335
NM_002834.5(PTPN11):c.1043A>T (p.Glu348Val) rs1287780991
NM_002834.5(PTPN11):c.1049C>A (p.Ser350Tyr) rs2135902093
NM_002834.5(PTPN11):c.104A>T (p.Lys35Ile)
NM_002834.5(PTPN11):c.1057A>C (p.Ile353Leu) rs752392909
NM_002834.5(PTPN11):c.1078G>A (p.Val360Met)
NM_002834.5(PTPN11):c.1085G>A (p.Arg362Lys) rs2135902194
NM_002834.5(PTPN11):c.1091A>G (p.Lys364Arg) rs988676659
NM_002834.5(PTPN11):c.1093A>C (p.Ser365Arg) rs1566183223
NM_002834.5(PTPN11):c.1117G>A (p.Asp373Asn)
NM_002834.5(PTPN11):c.1121A>G (p.Glu374Gly)
NM_002834.5(PTPN11):c.1126G>A (p.Ala376Thr)
NM_002834.5(PTPN11):c.1129C>G (p.Leu377Val) rs1322494804
NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile) rs1214510641
NM_002834.5(PTPN11):c.1148T>C (p.Met383Thr) rs1260386432
NM_002834.5(PTPN11):c.1150C>T (p.Arg384Cys)
NM_002834.5(PTPN11):c.1166A>G (p.Lys389Arg) rs2038606620
NM_002834.5(PTPN11):c.1171A>G (p.Ser391Gly) rs2135906878
NM_002834.5(PTPN11):c.1172G>A (p.Ser391Asn)
NM_002834.5(PTPN11):c.1177G>A (p.Ala393Thr)
NM_002834.5(PTPN11):c.1183G>T (p.Asp395Tyr)
NM_002834.5(PTPN11):c.1186T>C (p.Tyr396His)
NM_002834.5(PTPN11):c.1198G>A (p.Glu400Lys)
NM_002834.5(PTPN11):c.11G>A (p.Arg4Gln)
NM_002834.5(PTPN11):c.1216G>A (p.Val406Ile) rs1592850347
NM_002834.5(PTPN11):c.1223A>G (p.Gln408Arg) rs2038607572
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met) rs121918467
NM_002834.5(PTPN11):c.1235A>G (p.Glu412Gly) rs2038677213
NM_002834.5(PTPN11):c.1241C>T (p.Thr414Met)
NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp) rs1355732645
NM_002834.5(PTPN11):c.127C>G (p.Leu43Val) rs1566164987
NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe) rs1566164987
NM_002834.5(PTPN11):c.1294C>G (p.Pro432Ala)
NM_002834.5(PTPN11):c.1302C>T (p.Gly434=) rs777895575
NM_002834.5(PTPN11):c.1303G>T (p.Val435Leu)
NM_002834.5(PTPN11):c.1326G>A (p.Val442=)
NM_002834.5(PTPN11):c.1331A>G (p.His444Arg)
NM_002834.5(PTPN11):c.133G>A (p.Val45Ile) rs2037995352
NM_002834.5(PTPN11):c.1343G>A (p.Ser448Asn)
NM_002834.5(PTPN11):c.1348A>G (p.Met450Val) rs2038680566
NM_002834.5(PTPN11):c.1348A>T (p.Met450Leu)
NM_002834.5(PTPN11):c.1349T>C (p.Met450Thr) rs2135912854
NM_002834.5(PTPN11):c.1358G>A (p.Gly453Glu)
NM_002834.5(PTPN11):c.1379+6A>C
NM_002834.5(PTPN11):c.138-12G>A
NM_002834.5(PTPN11):c.1382C>T (p.Ala461Val) rs397509344
NM_002834.5(PTPN11):c.1385G>T (p.Gly462Val) rs2038706464
NM_002834.5(PTPN11):c.1387A>G (p.Ile463Val)
NM_002834.5(PTPN11):c.14+6G>T rs1244171867
NM_002834.5(PTPN11):c.1402_1403delinsGA (p.Thr468Glu) rs886039711
NM_002834.5(PTPN11):c.1408A>G (p.Ile470Val) rs779978269
NM_002834.5(PTPN11):c.1426A>G (p.Ile476Val) rs2038706987
NM_002834.5(PTPN11):c.1432A>G (p.Ile478Val)
NM_002834.5(PTPN11):c.1444A>C (p.Lys482Gln)
NM_002834.5(PTPN11):c.1447+6T>C
NM_002834.5(PTPN11):c.1450G>A (p.Val484Ile) rs2135916035
NM_002834.5(PTPN11):c.1453G>T (p.Asp485Tyr) rs397507538
NM_002834.5(PTPN11):c.1454A>G (p.Asp485Gly) rs2135916057
NM_002834.5(PTPN11):c.1464T>G (p.Ile488Met)
NM_002834.5(PTPN11):c.148G>A (p.Ala50Thr) rs587778636
NM_002834.5(PTPN11):c.1496C>G (p.Ser499Cys)
NM_002834.5(PTPN11):c.1498C>G (p.Gln500Glu) rs2038714548
NM_002834.5(PTPN11):c.1499A>G (p.Gln500Arg) rs1173984843
NM_002834.5(PTPN11):c.1594G>C (p.Glu532Gln)
NM_002834.5(PTPN11):c.1599+4C>A rs142606486
NM_002834.5(PTPN11):c.1599+5C>T
NM_002834.5(PTPN11):c.1599+6A>C
NM_002834.5(PTPN11):c.1604G>A (p.Ser535Asn)
NM_002834.5(PTPN11):c.1628C>T (p.Thr543Ile) rs1057520397
NM_002834.5(PTPN11):c.1648G>A (p.Ala550Thr)
NM_002834.5(PTPN11):c.164A>G (p.Lys55Arg) rs1261667540
NM_002834.5(PTPN11):c.1657A>T (p.Thr553Ser)
NM_002834.5(PTPN11):c.1671G>C (p.Gln557His) rs753741561
NM_002834.5(PTPN11):c.1675C>T (p.Pro559Ser) rs1060502526
NM_002834.5(PTPN11):c.1676C>T (p.Pro559Leu)
NM_002834.5(PTPN11):c.167T>C (p.Ile56Thr) rs1052382672
NM_002834.5(PTPN11):c.1685C>T (p.Pro562Leu) rs2038884191
NM_002834.5(PTPN11):c.1690A>G (p.Thr564Ala)
NM_002834.5(PTPN11):c.1696A>G (p.Thr566Ala) rs746712068
NM_002834.5(PTPN11):c.1705T>C (p.Cys569Arg) rs1420924484
NM_002834.5(PTPN11):c.1708G>T (p.Ala570Ser)
NM_002834.5(PTPN11):c.1712A>C (p.Glu571Ala)
NM_002834.5(PTPN11):c.1713-6_1730del rs2135930793
NM_002834.5(PTPN11):c.1716G>A (p.Met572Ile)
NM_002834.5(PTPN11):c.1724A>G (p.Asp575Gly) rs397516799
NM_002834.5(PTPN11):c.1727G>A (p.Ser576Asn)
NM_002834.5(PTPN11):c.1742A>C (p.Glu581Ala) rs2135930864
NM_002834.5(PTPN11):c.1763A>G (p.Gln588Arg)
NM_002834.5(PTPN11):c.1766A>C (p.Gln589Pro)
NM_002834.5(PTPN11):c.179_181del (p.Gly60del) rs80338836
NM_002834.5(PTPN11):c.184_185delinsAT (p.Tyr62Ile)
NM_002834.5(PTPN11):c.185A>G (p.Tyr62Cys)
NM_002834.5(PTPN11):c.18G>T (p.Trp6Cys)
NM_002834.5(PTPN11):c.223G>C (p.Ala75Pro) rs1555267561
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) rs121918465
NM_002834.5(PTPN11):c.246G>C (p.Met82Ile) rs753788277
NM_002834.5(PTPN11):c.256G>A (p.Gly86Arg) rs925129380
NM_002834.5(PTPN11):c.276T>A (p.Asn92Lys) rs2135862739
NM_002834.5(PTPN11):c.279A>T (p.Gly93=)
NM_002834.5(PTPN11):c.281A>G (p.Asp94Gly) rs2135862786
NM_002834.5(PTPN11):c.283G>A (p.Val95Ile) rs2135862799
NM_002834.5(PTPN11):c.289G>A (p.Glu97Lys) rs397507516
NM_002834.5(PTPN11):c.28A>G (p.Asn10Asp) rs368633510
NM_002834.5(PTPN11):c.290A>T (p.Glu97Val) rs2135862855
NM_002834.5(PTPN11):c.29A>C (p.Asn10Thr)
NM_002834.5(PTPN11):c.29A>G (p.Asn10Ser)
NM_002834.5(PTPN11):c.302C>T (p.Pro101Leu)
NM_002834.5(PTPN11):c.32T>C (p.Ile11Thr)
NM_002834.5(PTPN11):c.332+3C>T
NM_002834.5(PTPN11):c.369G>T (p.Glu123Asp) rs755619262
NM_002834.5(PTPN11):c.418A>T (p.Ser140Cys) rs1060502527
NM_002834.5(PTPN11):c.466G>T (p.Asp156Tyr)
NM_002834.5(PTPN11):c.470A>G (p.Lys157Arg) rs1315568280
NM_002834.5(PTPN11):c.473G>T (p.Gly158Val)
NM_002834.5(PTPN11):c.479G>A (p.Ser160Asn) rs1044076600
NM_002834.5(PTPN11):c.487G>T (p.Gly163Cys)
NM_002834.5(PTPN11):c.500T>C (p.Val167Ala)
NM_002834.5(PTPN11):c.502A>G (p.Thr168Ala) rs2038105901
NM_002834.5(PTPN11):c.525+6T>A rs370878456
NM_002834.5(PTPN11):c.525+6T>C
NM_002834.5(PTPN11):c.538G>A (p.Asp180Asn)
NM_002834.5(PTPN11):c.554A>T (p.Glu185Val)
NM_002834.5(PTPN11):c.557G>C (p.Arg186Pro) rs764663951
NM_002834.5(PTPN11):c.55C>G (p.Leu19Val)
NM_002834.5(PTPN11):c.574G>A (p.Asp192Asn)
NM_002834.5(PTPN11):c.575A>C (p.Asp192Ala)
NM_002834.5(PTPN11):c.583G>C (p.Glu195Gln)
NM_002834.5(PTPN11):c.604A>T (p.Met202Leu)
NM_002834.5(PTPN11):c.611A>T (p.Glu204Val)
NM_002834.5(PTPN11):c.612A>T (p.Glu204Asp)
NM_002834.5(PTPN11):c.628C>A (p.Leu210Ile)
NM_002834.5(PTPN11):c.641A>T (p.Gln214Leu)
NM_002834.5(PTPN11):c.643-5A>G
NM_002834.5(PTPN11):c.64A>G (p.Thr22Ala)
NM_002834.5(PTPN11):c.653C>T (p.Thr218Met)
NM_002834.5(PTPN11):c.658C>T (p.Arg220Cys) rs2135872268
NM_002834.5(PTPN11):c.710C>T (p.Ala237Val)
NM_002834.5(PTPN11):c.712G>A (p.Glu238Lys)
NM_002834.5(PTPN11):c.727_732del (p.Val243_Lys244del) rs2135872358
NM_002834.5(PTPN11):c.733C>G (p.Gln245Glu) rs2038155027
NM_002834.5(PTPN11):c.756+6T>C
NM_002834.5(PTPN11):c.762ACA[2] (p.Gln257del) rs397507524
NM_002834.5(PTPN11):c.770A>G (p.Gln257Arg) rs2038442309
NM_002834.5(PTPN11):c.776G>A (p.Cys259Tyr)
NM_002834.5(PTPN11):c.781_782delinsTA (p.Leu261Tyr)
NM_002834.5(PTPN11):c.788A>G (p.Tyr263Cys) rs763617831
NM_002834.5(PTPN11):c.853+3A>G
NM_002834.5(PTPN11):c.853+7A>G
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val) rs397507531
NM_002834.5(PTPN11):c.877C>T (p.His293Tyr)
NM_002834.5(PTPN11):c.879C>A (p.His293Gln) rs117730996
NM_002834.5(PTPN11):c.879C>G (p.His293Gln) rs117730996
NM_002834.5(PTPN11):c.880G>A (p.Asp294Asn)
NM_002834.5(PTPN11):c.880G>T (p.Asp294Tyr)
NM_002834.5(PTPN11):c.889C>G (p.Pro297Ala)
NM_002834.5(PTPN11):c.898C>A (p.Pro300Thr)
NM_002834.5(PTPN11):c.947C>T (p.Thr316Ile) rs547041954
NM_002834.5(PTPN11):c.955A>G (p.Asn319Asp) rs2038531520
NM_002834.5(PTPN11):c.956A>G (p.Asn319Ser)
NM_002834.5(PTPN11):c.965A>G (p.Lys322Arg)
NM_002834.5(PTPN11):c.972A>C (p.Lys324Asn)
NM_002834.5(PTPN11):c.997T>A (p.Cys333Ser) rs730880993
NM_002880.3(RAF1):c.-26-?_1370+?dup
NM_002880.3(RAF1):c.1109_1111delGAG
NM_002880.4(RAF1):c.1019A>G (p.Tyr340Cys) rs2058798881
NM_002880.4(RAF1):c.1031T>C (p.Ile344Thr)
NM_002880.4(RAF1):c.1033G>C (p.Glu345Gln)
NM_002880.4(RAF1):c.1037C>A (p.Ala346Asp) rs2125378113
NM_002880.4(RAF1):c.1055C>T (p.Ser352Phe) rs2125377884
NM_002880.4(RAF1):c.1057A>G (p.Thr353Ala) rs946464136
NM_002880.4(RAF1):c.106T>G (p.Phe36Val) rs2125453209
NM_002880.4(RAF1):c.1079T>C (p.Phe360Ser)
NM_002880.4(RAF1):c.1085C>G (p.Thr362Ser) rs2125377494
NM_002880.4(RAF1):c.1109-10A>G
NM_002880.4(RAF1):c.1127T>C (p.Ile376Thr) rs1575546549
NM_002880.4(RAF1):c.1135G>T (p.Val379Phe)
NM_002880.4(RAF1):c.1144C>T (p.Pro382Ser) rs1575546471
NM_002880.4(RAF1):c.1148C>A (p.Thr383Asn)
NM_002880.4(RAF1):c.1150C>T (p.Pro384Ser) rs140788943
NM_002880.4(RAF1):c.1151C>G (p.Pro384Arg) rs2125347586
NM_002880.4(RAF1):c.1192C>T (p.Arg398Cys)
NM_002880.4(RAF1):c.1193G>A (p.Arg398His) rs730880382
NM_002880.4(RAF1):c.11T>C (p.Ile4Thr)
NM_002880.4(RAF1):c.1201C>G (p.Arg401Gly)
NM_002880.4(RAF1):c.1201C>T (p.Arg401Trp)
NM_002880.4(RAF1):c.1208T>C (p.Val403Ala)
NM_002880.4(RAF1):c.121C>T (p.Arg41Trp) rs1480507957
NM_002880.4(RAF1):c.1234A>G (p.Met412Val)
NM_002880.4(RAF1):c.1234A>T (p.Met412Leu) rs1231291103
NM_002880.4(RAF1):c.1242G>C (p.Lys414Asn)
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile) rs876657965
NM_002880.4(RAF1):c.1273G>A (p.Glu425Lys)
NM_002880.4(RAF1):c.1291A>T (p.Lys431Ter) rs2125343165
NM_002880.4(RAF1):c.1313C>A (p.Thr438Asn)
NM_002880.4(RAF1):c.1317G>C (p.Lys439Asn)
NM_002880.4(RAF1):c.131A>C (p.Asp44Ala)
NM_002880.4(RAF1):c.1323G>C (p.Gln441His) rs1131691942
NM_002880.4(RAF1):c.132T>A (p.Asp44Glu)
NM_002880.4(RAF1):c.1338T>G (p.Ile446Met)
NM_002880.4(RAF1):c.133G>A (p.Asp45Asn) rs1575600313
NM_002880.4(RAF1):c.1342A>G (p.Ile448Val)
NM_002880.4(RAF1):c.1348C>T (p.Arg450Trp)
NM_002880.4(RAF1):c.1349G>A (p.Arg450Gln) rs886041642
NM_002880.4(RAF1):c.1349G>T (p.Arg450Leu) rs886041642
NM_002880.4(RAF1):c.1355C>A (p.Thr452Lys) rs555781462
NM_002880.4(RAF1):c.1364G>A (p.Gly455Glu)
NM_002880.4(RAF1):c.1370+3G>A rs2058489324
NM_002880.4(RAF1):c.1370+3_1370+6del rs2125342650
NM_002880.4(RAF1):c.1371C>A (p.Asp457Glu) rs2125332052
NM_002880.4(RAF1):c.1376T>C (p.Leu459Ser)
NM_002880.4(RAF1):c.1385A>G (p.Lys462Arg)
NM_002880.4(RAF1):c.1388A>T (p.Asn463Ile)
NM_002880.4(RAF1):c.138C>T (p.Gly46=)
NM_002880.4(RAF1):c.1392C>G (p.Ile464Met) rs2125332012
NM_002880.4(RAF1):c.1397A>G (p.His466Arg)
NM_002880.4(RAF1):c.1417+1G>A
NM_002880.4(RAF1):c.1418A>G (p.Asn473Ser)
NM_002880.4(RAF1):c.1421T>C (p.Ile474Thr)
NM_002880.4(RAF1):c.1426C>T (p.Leu476Phe) rs2058315266
NM_002880.4(RAF1):c.1438T>A (p.Leu480Ile)
NM_002880.4(RAF1):c.1463G>A (p.Gly488Asp) rs865862568
NM_002880.4(RAF1):c.1466T>C (p.Leu489Ser)
NM_002880.4(RAF1):c.146C>G (p.Thr49Arg)
NM_002880.4(RAF1):c.1475T>C (p.Val492Ala)
NM_002880.4(RAF1):c.1483C>T (p.Arg495Cys)
NM_002880.4(RAF1):c.1488G>C (p.Trp496Cys) rs2125325948
NM_002880.4(RAF1):c.1505T>C (p.Val502Ala) rs2125325738
NM_002880.4(RAF1):c.1513C>T (p.Pro505Ser) rs758684190
NM_002880.4(RAF1):c.1517C>T (p.Thr506Ile) rs1315751104
NM_002880.4(RAF1):c.151C>G (p.Pro51Ala)
NM_002880.4(RAF1):c.1529T>C (p.Leu510Pro)
NM_002880.4(RAF1):c.1536+3G>A
NM_002880.4(RAF1):c.1536G>A (p.Met512Ile)
NM_002880.4(RAF1):c.1537-32_1537-8dup
NM_002880.4(RAF1):c.1551C>G (p.Ile517Met)
NM_002880.4(RAF1):c.1552C>T (p.Arg518Ter) rs2125322976
NM_002880.4(RAF1):c.1556T>G (p.Met519Arg) rs1553609996
NM_002880.4(RAF1):c.1561G>C (p.Asp521His) rs2125322844
NM_002880.4(RAF1):c.1564A>G (p.Asn522Asp)
NM_002880.4(RAF1):c.1564AAC[1] (p.Asn523del)
NM_002880.4(RAF1):c.1566C>G (p.Asn522Lys)
NM_002880.4(RAF1):c.1568A>G (p.Asn523Ser)
NM_002880.4(RAF1):c.1575C>G (p.Phe525Leu)
NM_002880.4(RAF1):c.1598_1600del (p.Ser533del)
NM_002880.4(RAF1):c.1609G>A (p.Val537Ile) rs751232720
NM_002880.4(RAF1):c.1613T>C (p.Leu538Ser) rs730881011
NM_002880.4(RAF1):c.1616A>G (p.Tyr539Cys)
NM_002880.4(RAF1):c.1621C>A (p.Leu541Met)
NM_002880.4(RAF1):c.1635_1636delinsAA (p.Leu546Ile)
NM_002880.4(RAF1):c.1652T>A (p.Ile551Asn) rs2058289374
NM_002880.4(RAF1):c.1655A>C (p.Asn552Thr)
NM_002880.4(RAF1):c.1655A>G (p.Asn552Ser) rs775817988
NM_002880.4(RAF1):c.1658A>G (p.Asn553Ser) rs1411490030
NM_002880.4(RAF1):c.1660C>T (p.Arg554Ter) rs925151637
NM_002880.4(RAF1):c.1666C>G (p.Gln556Glu)
NM_002880.4(RAF1):c.1667A>G (p.Gln556Arg) rs774558798
NM_002880.4(RAF1):c.1668+1G>A rs112252613
NM_002880.4(RAF1):c.1668+20A>T rs2125321294
NM_002880.4(RAF1):c.1668+3_1668+4dup
NM_002880.4(RAF1):c.1669-19_1672dup rs2125320099
NM_002880.4(RAF1):c.1690G>A (p.Gly564Arg) rs1553609909
NM_002880.4(RAF1):c.1694A>G (p.Tyr565Cys) rs1575530552
NM_002880.4(RAF1):c.169A>G (p.Thr57Ala)
NM_002880.4(RAF1):c.16G>A (p.Gly6Arg) rs1575600689
NM_002880.4(RAF1):c.1706_1712dup (p.Ser571delinsArgSerTer) rs2058277475
NM_002880.4(RAF1):c.1725G>C (p.Lys575Asn)
NM_002880.4(RAF1):c.1738G>T (p.Ala580Ser)
NM_002880.4(RAF1):c.1746G>C (p.Lys582Asn) rs2058276038
NM_002880.4(RAF1):c.1765_1767del (p.Val589del) rs2125319431
NM_002880.4(RAF1):c.1770G>C (p.Lys590Asn) rs773583951
NM_002880.4(RAF1):c.1784A>C (p.Glu595Ala) rs2125319319
NM_002880.4(RAF1):c.1799C>G (p.Pro600Arg)
NM_002880.4(RAF1):c.1803+6G>C rs1553609870
NM_002880.4(RAF1):c.1811C>T (p.Ser604Phe)
NM_002880.4(RAF1):c.1822C>G (p.Leu608Val)
NM_002880.4(RAF1):c.1832A>C (p.His611Pro) rs2058261337
NM_002880.4(RAF1):c.1834T>A (p.Ser612Thr)
NM_002880.4(RAF1):c.1837_1838del (p.Leu613fs) rs2125316977
NM_002880.4(RAF1):c.183C>G (p.Phe61Leu)
NM_002880.4(RAF1):c.1841C>T (p.Pro614Leu)
NM_002880.4(RAF1):c.1858G>A (p.Ala620Thr) rs865905076
NM_002880.4(RAF1):c.1867C>T (p.Pro623Ser) rs373596121
NM_002880.4(RAF1):c.1871C>G (p.Ser624Cys) rs1057524239
NM_002880.4(RAF1):c.1880G>A (p.Arg627Gln) rs730881006
NM_002880.4(RAF1):c.1886C>G (p.Ala629Gly) rs1228678241
NM_002880.4(RAF1):c.1891A>G (p.Thr631Ala)
NM_002880.4(RAF1):c.1894G>A (p.Glu632Lys)
NM_002880.4(RAF1):c.1898A>G (p.Asp633Gly)
NM_002880.4(RAF1):c.191A>G (p.Asn64Ser)
NM_002880.4(RAF1):c.1936C>T (p.Pro646Ser) rs1060503152
NM_002880.4(RAF1):c.1943T>C (p.Phe648Ser) rs760591831
NM_002880.4(RAF1):c.1A>G (p.Met1Val) rs2125453796
NM_002880.4(RAF1):c.208-6_208-3del rs2125431643
NM_002880.4(RAF1):c.20C>G (p.Ala7Gly) rs200365094
NM_002880.4(RAF1):c.212A>T (p.Asn71Ile) rs184022679
NM_002880.4(RAF1):c.218G>A (p.Arg73Gln) rs140884322
NM_002880.4(RAF1):c.227T>C (p.Met76Thr) rs2125431362
NM_002880.4(RAF1):c.228G>A (p.Met76Ile) rs2125431347
NM_002880.4(RAF1):c.245T>C (p.Leu82Pro) rs2125431096
NM_002880.4(RAF1):c.260A>G (p.Lys87Arg) rs763666757
NM_002880.4(RAF1):c.276A>T (p.Gln92His)
NM_002880.4(RAF1):c.277C>T (p.Pro93Ser) rs771199974
NM_002880.4(RAF1):c.278C>T (p.Pro93Leu) rs1559438381
NM_002880.4(RAF1):c.294_295dup (p.Phe99fs)
NM_002880.4(RAF1):c.309C>G (p.His103Gln) rs1057520880
NM_002880.4(RAF1):c.310G>A (p.Glu104Lys)
NM_002880.4(RAF1):c.312A>C (p.Glu104Asp)
NM_002880.4(RAF1):c.320+6A>T
NM_002880.4(RAF1):c.321-3T>C
NM_002880.4(RAF1):c.325_327del (p.Lys109del) rs1418886913
NM_002880.4(RAF1):c.327dup (p.Ala110fs) rs1418886913
NM_002880.4(RAF1):c.332G>A (p.Arg111His) rs996417348
NM_002880.4(RAF1):c.34A>G (p.Ser12Gly) rs2125453642
NM_002880.4(RAF1):c.353C>T (p.Ala118Val)
NM_002880.4(RAF1):c.356C>T (p.Ala119Val) rs1398525119
NM_002880.4(RAF1):c.370G>A (p.Glu124Lys) rs1060503153
NM_002880.4(RAF1):c.377T>C (p.Leu126Pro)
NM_002880.4(RAF1):c.379C>T (p.Gln127Ter) rs397516820
NM_002880.4(RAF1):c.37A>G (p.Asn13Asp)
NM_002880.4(RAF1):c.388T>A (p.Phe130Ile) rs397516821
NM_002880.4(RAF1):c.418A>T (p.Asn140Tyr)
NM_002880.4(RAF1):c.419A>G (p.Asn140Ser) rs876657968
NM_002880.4(RAF1):c.420C>G (p.Asn140Lys) rs775525868
NM_002880.4(RAF1):c.422T>C (p.Phe141Ser) rs2059135125
NM_002880.4(RAF1):c.423+12A>T rs1055790600
NM_002880.4(RAF1):c.423T>C (p.Phe141=) rs2059134982
NM_002880.4(RAF1):c.427C>G (p.Arg143Gly)
NM_002880.4(RAF1):c.437T>C (p.Phe146Ser) rs2125417098
NM_002880.4(RAF1):c.438C>A (p.Phe146Leu) rs794727717
NM_002880.4(RAF1):c.445C>T (p.Leu149Phe) rs1559433480
NM_002880.4(RAF1):c.452T>C (p.Phe151Ser) rs587782971
NM_002880.4(RAF1):c.453C>A (p.Phe151Leu) rs2125416996
NM_002880.4(RAF1):c.457G>C (p.Asp153His) rs2059121734
NM_002880.4(RAF1):c.460A>G (p.Ile154Val)
NM_002880.4(RAF1):c.465T>G (p.Cys155Trp) rs2059121538
NM_002880.4(RAF1):c.475C>A (p.Leu159Met)
NM_002880.4(RAF1):c.491G>A (p.Arg164Gln)
NM_002880.4(RAF1):c.512A>G (p.Lys171Arg) rs876657969
NM_002880.4(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_002880.4(RAF1):c.533C>G (p.Thr178Ser) rs1232843195
NM_002880.4(RAF1):c.537A>G (p.Lys179=) rs1575582733
NM_002880.4(RAF1):c.553G>T (p.Val185Leu)
NM_002880.4(RAF1):c.556G>A (p.Asp186Asn) rs2125416501
NM_002880.4(RAF1):c.580T>A (p.Leu194Ile)
NM_002880.4(RAF1):c.589C>A (p.Pro197Thr) rs563575013
NM_002880.4(RAF1):c.592A>G (p.Asn198Asp)
NM_002880.4(RAF1):c.604G>A (p.Gly202Ser)
NM_002880.4(RAF1):c.608A>G (p.Asp203Gly)
NM_002880.4(RAF1):c.616G>A (p.Val206Ile) rs2059026071
NM_002880.4(RAF1):c.623C>A (p.Ala208Glu)
NM_002880.4(RAF1):c.62T>C (p.Val21Ala) rs1306287046
NM_002880.4(RAF1):c.638C>T (p.Thr213Ile)
NM_002880.4(RAF1):c.643C>T (p.Arg215Cys) rs773051648
NM_002880.4(RAF1):c.646C>T (p.Arg216Cys) rs2125406604
NM_002880.4(RAF1):c.647G>A (p.Arg216His) rs761703202
NM_002880.4(RAF1):c.655G>C (p.Glu219Gln) rs2059024431
NM_002880.4(RAF1):c.656A>T (p.Glu219Val)
NM_002880.4(RAF1):c.659C>A (p.Ser220Tyr) rs997988758
NM_002880.4(RAF1):c.65T>G (p.Phe22Cys) rs2125453485
NM_002880.4(RAF1):c.672G>T (p.Met224Ile) rs1553614191
NM_002880.4(RAF1):c.673C>G (p.Pro225Ala)
NM_002880.4(RAF1):c.681T>C (p.Ser227=)
NM_002880.4(RAF1):c.683C>T (p.Ser228Phe)
NM_002880.4(RAF1):c.687_707dup (p.Pro235_His236insGlnHisArgTyrSerThrPro)
NM_002880.4(RAF1):c.68_70del (p.Asp23del) rs749549707
NM_002880.4(RAF1):c.700A>G (p.Thr234Ala)
NM_002880.4(RAF1):c.727T>C (p.Ser243Pro)
NM_002880.4(RAF1):c.728C>G (p.Ser243Cys) rs1575573477
NM_002880.4(RAF1):c.730A>C (p.Ser244Arg)
NM_002880.4(RAF1):c.741T>A (p.Ser247=)
NM_002880.4(RAF1):c.746G>T (p.Gly249Val) rs1559426289
NM_002880.4(RAF1):c.751C>G (p.Leu251Val)
NM_002880.4(RAF1):c.752T>A (p.Leu251His) rs1553613787
NM_002880.4(RAF1):c.752T>G (p.Leu251Arg)
NM_002880.4(RAF1):c.758A>C (p.Gln253Pro)
NM_002880.4(RAF1):c.790C>G (p.His264Asp)
NM_002880.4(RAF1):c.791A>G (p.His264Arg) rs1057517887
NM_002880.4(RAF1):c.797T>G (p.Val266Gly) rs2058951671
NM_002880.4(RAF1):c.803C>G (p.Thr268Ser) rs2125397288
NM_002880.4(RAF1):c.811C>A (p.Pro271Thr) rs1458313379
NM_002880.4(RAF1):c.826A>G (p.Met276Val) rs1189618862
NM_002880.4(RAF1):c.830T>G (p.Ile277Ser) rs1559425852
NM_002880.4(RAF1):c.834+4A>C rs2058950056
NM_002880.4(RAF1):c.837T>A (p.Asp279Glu) rs2125381916
NM_002880.4(RAF1):c.848G>A (p.Ser283Asn) rs1575565653
NM_002880.4(RAF1):c.850C>T (p.His284Tyr)
NM_002880.4(RAF1):c.856G>A (p.Glu286Lys) rs147453956
NM_002880.4(RAF1):c.862+4C>A
NM_002880.4(RAF1):c.866C>T (p.Ser289Leu)
NM_002880.4(RAF1):c.869C>A (p.Pro290His) rs2058820862
NM_002880.4(RAF1):c.874G>A (p.Ala292Thr)
NM_002880.4(RAF1):c.885T>G (p.Ser295Arg)
NM_002880.4(RAF1):c.890C>G (p.Pro297Arg)
NM_002880.4(RAF1):c.892A>C (p.Asn298His) rs878854567
NM_002880.4(RAF1):c.895A>G (p.Asn299Asp)
NM_002880.4(RAF1):c.896A>G (p.Asn299Ser)
NM_002880.4(RAF1):c.89C>A (p.Pro30His)
NM_002880.4(RAF1):c.908C>T (p.Thr303Ile)
NM_002880.4(RAF1):c.91A>G (p.Thr31Ala) rs1486365900
NM_002880.4(RAF1):c.922C>T (p.Pro308Ser)
NM_002880.4(RAF1):c.929C>T (p.Thr310Ile)
NM_002880.4(RAF1):c.930_941del (p.Pro311_Ala314del)
NM_002880.4(RAF1):c.937C>A (p.Pro313Thr)
NM_002880.4(RAF1):c.945_946del (p.Glu317fs) rs2125380363
NM_002880.4(RAF1):c.947G>A (p.Arg316Lys)
NM_002880.4(RAF1):c.958C>T (p.Pro320Ser) rs1406867543
NM_002880.4(RAF1):c.959C>T (p.Pro320Leu) rs2058815076
NM_002880.4(RAF1):c.964T>C (p.Ser322Pro) rs2125380223
NM_002880.4(RAF1):c.97G>A (p.Val33Ile) rs1575600440
NM_002880.4(RAF1):c.988A>G (p.Ile330Val)
NM_002880.4(RAF1):c.989T>C (p.Ile330Thr)
NM_002880.4(RAF1):c.994C>G (p.Pro332Ala) rs1057403865
NM_002880.4(RAF1):c.997C>G (p.Arg333Gly) rs551466727
NM_002880.4(RAF1):c.998G>T (p.Arg333Leu) rs755384884
NM_004333.6(BRAF):c.1004C>T (p.Ser335Phe)
NM_004333.6(BRAF):c.1012A>G (p.Lys338Glu)
NM_004333.6(BRAF):c.1021C>G (p.Pro341Ala)
NM_004333.6(BRAF):c.1022C>A (p.Pro341Gln) rs863224722
NM_004333.6(BRAF):c.1028C>T (p.Pro343Leu)
NM_004333.6(BRAF):c.103G>A (p.Ala35Thr) rs1818660367
NM_004333.6(BRAF):c.1040G>A (p.Arg347Gln)
NM_004333.6(BRAF):c.104C>A (p.Ala35Asp)
NM_004333.6(BRAF):c.1051G>C (p.Glu351Gln) rs2129038019
NM_004333.6(BRAF):c.1058A>G (p.His353Arg) rs1802306841
NM_004333.6(BRAF):c.1076A>G (p.Gln359Arg)
NM_004333.6(BRAF):c.1085G>T (p.Arg362Leu)
NM_004333.6(BRAF):c.1087T>G (p.Ser363Ala)
NM_004333.6(BRAF):c.1103A>G (p.Asn368Ser) rs1802300066
NM_004333.6(BRAF):c.1117A>G (p.Thr373Ala)
NM_004333.6(BRAF):c.1120A>G (p.Ile374Val) rs397507471
NM_004333.6(BRAF):c.1133A>G (p.Asn378Ser) rs1278451495
NM_004333.6(BRAF):c.1157A>G (p.Gln386Arg) rs1554401118
NM_004333.6(BRAF):c.1178-3T>C
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.1201A>G (p.Thr401Ala)
NM_004333.6(BRAF):c.1205C>A (p.Pro402His) rs199927105
NM_004333.6(BRAF):c.1205C>G (p.Pro402Arg) rs199927105
NM_004333.6(BRAF):c.1205C>T (p.Pro402Leu) rs199927105
NM_004333.6(BRAF):c.1207C>G (p.Pro403Ala) rs749792302
NM_004333.6(BRAF):c.1208del (p.Pro403fs)
NM_004333.6(BRAF):c.1219C>A (p.Pro407Thr)
NM_004333.6(BRAF):c.1244C>G (p.Ala415Gly)
NM_004333.6(BRAF):c.1247T>C (p.Leu416Ser) rs780915629
NM_004333.6(BRAF):c.124G>T (p.Ala42Ser) rs2129153151
NM_004333.6(BRAF):c.1250A>G (p.Gln417Arg)
NM_004333.6(BRAF):c.1259C>G (p.Pro420Arg)
NM_004333.6(BRAF):c.125C>T (p.Ala42Val)
NM_004333.6(BRAF):c.1262G>C (p.Gly421Ala)
NM_004333.6(BRAF):c.1264C>T (p.Pro422Ser)
NM_004333.6(BRAF):c.1288T>G (p.Ser430Ala)
NM_004333.6(BRAF):c.1310G>A (p.Arg437Gln) rs998233805
NM_004333.6(BRAF):c.1314+1G>T
NM_004333.6(BRAF):c.1314+4A>G
NM_004333.6(BRAF):c.1315-13_1315-12delinsCT
NM_004333.6(BRAF):c.1317A>G (p.Lys439=) rs569455230
NM_004333.6(BRAF):c.1331G>A (p.Arg444Gln) rs1800890866
NM_004333.6(BRAF):c.1354A>C (p.Ile452Leu)
NM_004333.6(BRAF):c.1364G>A (p.Gly455Glu)
NM_004333.6(BRAF):c.1379G>A (p.Gly460Glu)
NM_004333.6(BRAF):c.138+3G>A rs1554430994
NM_004333.6(BRAF):c.138+4A>G
NM_004333.6(BRAF):c.138+6_138+11del
NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu) rs121913351
NM_004333.6(BRAF):c.1400C>T (p.Ser467Leu)
NM_004333.6(BRAF):c.1418A>G (p.Lys473Arg)
NM_004333.6(BRAF):c.1431T>C (p.His477=)
NM_004333.6(BRAF):c.1432+8T>A
NM_004333.6(BRAF):c.1441G>A (p.Ala481Thr)
NM_004333.6(BRAF):c.1447A>G (p.Lys483Glu) rs397507474
NM_004333.6(BRAF):c.1448A>C (p.Lys483Thr) rs1586126581
NM_004333.6(BRAF):c.1448A>G (p.Lys483Arg) rs1586126581
NM_004333.6(BRAF):c.1452G>T (p.Met484Ile) rs759901913
NM_004333.6(BRAF):c.1489G>A (p.Ala497Thr) rs2129019555
NM_004333.6(BRAF):c.1513C>T (p.Leu505Phe) rs397507477
NM_004333.6(BRAF):c.1517+5G>A
NM_004333.6(BRAF):c.1517+6C>T
NM_004333.6(BRAF):c.1518-3C>T rs1265714510
NM_004333.6(BRAF):c.1561A>G (p.Thr521Ala)
NM_004333.6(BRAF):c.157A>G (p.Met53Val)
NM_004333.6(BRAF):c.1582G>C (p.Val528Leu) rs2129018438
NM_004333.6(BRAF):c.15CGGTGG[3] (p.Gly10_Gly11dup) rs1466749878
NM_004333.6(BRAF):c.1615C>A (p.His539Asn) rs2129018348
NM_004333.6(BRAF):c.1621C>T (p.Leu541Phe) rs1800393052
NM_004333.6(BRAF):c.1630A>G (p.Ile544Val)
NM_004333.6(BRAF):c.1631T>C (p.Ile544Thr)
NM_004333.6(BRAF):c.1642T>C (p.Phe548Leu) rs768303459
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.1662A>G (p.Ile554Met) rs2129018241
NM_004333.6(BRAF):c.1672C>T (p.Arg558Ter)
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) rs397507481
NM_004333.6(BRAF):c.1741+8T>C
NM_004333.6(BRAF):c.1741A>C (p.Asn581His) rs180177040
NM_004333.6(BRAF):c.1742-7A>C
NM_004333.6(BRAF):c.1742A>T (p.Asn581Ile)
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) rs121913338
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) rs121913338
NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn) rs121913365
NM_004333.6(BRAF):c.1807C>T (p.Arg603Ter) rs104886015
NM_004333.6(BRAF):c.1860+5G>A
NM_004333.6(BRAF):c.1861-3C>T
NM_004333.6(BRAF):c.1861G>T (p.Ala621Ser) rs2128994651
NM_004333.6(BRAF):c.1864C>T (p.Pro622Ser)
NM_004333.6(BRAF):c.1870G>A (p.Val624Ile) rs781330698
NM_004333.6(BRAF):c.187G>A (p.Ala63Thr)
NM_004333.6(BRAF):c.1897T>C (p.Tyr633His) rs746010267
NM_004333.6(BRAF):c.1898A>G (p.Tyr633Cys) rs1797603824
NM_004333.6(BRAF):c.1910C>T (p.Ser637Leu)
NM_004333.6(BRAF):c.1915G>A (p.Val639Ile)
NM_004333.6(BRAF):c.1936C>G (p.Leu646Val)
NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys) rs1562939198
NM_004333.6(BRAF):c.1950G>C (p.Met650Ile) rs879255380
NM_004333.6(BRAF):c.1958A>T (p.Gln653Leu)
NM_004333.6(BRAF):c.1959G>T (p.Gln653His) rs1797598919
NM_004333.6(BRAF):c.1979A>G (p.Asn660Ser) rs2128994317
NM_004333.6(BRAF):c.1980C>G (p.Asn660Lys)
NM_004333.6(BRAF):c.1992+3A>G rs1797595959
NM_004333.6(BRAF):c.1993A>G (p.Ile665Val)
NM_004333.6(BRAF):c.2004G>C (p.Met668Ile)
NM_004333.6(BRAF):c.2039A>G (p.Lys680Arg)
NM_004333.6(BRAF):c.2044C>T (p.Arg682Trp)
NM_004333.6(BRAF):c.205G>A (p.Gly69Ser) rs757446039
NM_004333.6(BRAF):c.2065A>G (p.Met689Val)
NM_004333.6(BRAF):c.206G>C (p.Gly69Ala) rs1554412417
NM_004333.6(BRAF):c.2075T>C (p.Leu692Ser)
NM_004333.6(BRAF):c.2077_2078dup (p.Met693fs)
NM_004333.6(BRAF):c.2078T>C (p.Met693Thr) rs766692331
NM_004333.6(BRAF):c.2084A>G (p.Glu695Gly)
NM_004333.6(BRAF):c.2087G>A (p.Cys696Tyr)
NM_004333.6(BRAF):c.2125C>A (p.Gln709Lys) rs1554389828
NM_004333.6(BRAF):c.2128-27_2128-8del
NM_004333.6(BRAF):c.2134G>A (p.Ala712Thr) rs1481562268
NM_004333.6(BRAF):c.2134G>T (p.Ala712Ser)
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) rs727502904
NM_004333.6(BRAF):c.2155C>T (p.Arg719Cys) rs397507487
NM_004333.6(BRAF):c.2176C>T (p.Arg726Cys)
NM_004333.6(BRAF):c.2195C>T (p.Ser732Phe)
NM_004333.6(BRAF):c.2203C>T (p.Arg735Trp) rs2130868602
NM_004333.6(BRAF):c.2204G>A (p.Arg735Gln)
NM_004333.6(BRAF):c.2213T>G (p.Phe738Cys)
NM_004333.6(BRAF):c.221C>T (p.Pro74Leu)
NM_004333.6(BRAF):c.2231G>A (p.Ser744Asn)
NM_004333.6(BRAF):c.2263A>G (p.Ile755Val)
NM_004333.6(BRAF):c.2276del (p.Gly759fs)
NM_004333.6(BRAF):c.2285C>T (p.Ala762Val)
NM_004333.6(BRAF):c.2291C>T (p.Pro764Leu) rs139420557
NM_004333.6(BRAF):c.2293G>C (p.Val765Leu) rs1217309134
NM_004333.6(BRAF):c.2296C>T (p.His766Tyr)
NM_004333.6(BRAF):c.2296_2298del (p.His766del)
NM_004333.6(BRAF):c.22G>T (p.Gly8Cys)
NM_004333.6(BRAF):c.231A>G (p.Ile77Met)
NM_004333.6(BRAF):c.240+2T>C
NM_004333.6(BRAF):c.241-10T>G
NM_004333.6(BRAF):c.242C>T (p.Ala81Val)
NM_004333.6(BRAF):c.245A>G (p.Tyr82Cys)
NM_004333.6(BRAF):c.260G>A (p.Ser87Asn) rs1033856250
NM_004333.6(BRAF):c.26_34del (p.Gly9_Gly11del)
NM_004333.6(BRAF):c.272C>G (p.Ala91Gly) rs886041256
NM_004333.6(BRAF):c.279A>T (p.Gln93His)
NM_004333.6(BRAF):c.27_32dup (p.Gly11_Ala12insGlyGly)
NM_004333.6(BRAF):c.302A>G (p.Glu101Gly)
NM_004333.6(BRAF):c.305C>T (p.Ser102Phe)
NM_004333.6(BRAF):c.317G>A (p.Gly106Glu) rs1322163182
NM_004333.6(BRAF):c.317G>C (p.Gly106Ala) rs1322163182
NM_004333.6(BRAF):c.319A>C (p.Thr107Pro) rs2129062208
NM_004333.6(BRAF):c.325T>A (p.Phe109Ile) rs397507460
NM_004333.6(BRAF):c.329C>G (p.Ser110Cys)
NM_004333.6(BRAF):c.32G>C (p.Gly11Ala)
NM_004333.6(BRAF):c.331G>T (p.Val111Phe) rs1807139980
NM_004333.6(BRAF):c.346T>G (p.Ser116Ala)
NM_004333.6(BRAF):c.365C>T (p.Ser122Phe) rs397507462
NM_004333.6(BRAF):c.366TTC[1] (p.Ser127del)
NM_004333.6(BRAF):c.368C>G (p.Ser123Cys)
NM_004333.6(BRAF):c.374C>T (p.Ser125Phe) rs2129062120
NM_004333.6(BRAF):c.379A>G (p.Ser127Gly) rs543425316
NM_004333.6(BRAF):c.39G>C (p.Glu13Asp) rs868441785
NM_004333.6(BRAF):c.416A>G (p.Gln139Arg)
NM_004333.6(BRAF):c.443A>C (p.Asn148Thr)
NM_004333.6(BRAF):c.443A>G (p.Asn148Ser)
NM_004333.6(BRAF):c.469G>A (p.Val157Ile) rs1258111302
NM_004333.6(BRAF):c.49G>C (p.Ala17Pro) rs1818675668
NM_004333.6(BRAF):c.509C>T (p.Pro170Leu)
NM_004333.6(BRAF):c.557T>A (p.Met186Lys)
NM_004333.6(BRAF):c.558G>A (p.Met186Ile) rs2129048397
NM_004333.6(BRAF):c.55T>C (p.Phe19Leu)
NM_004333.6(BRAF):c.589G>C (p.Val197Leu)
NM_004333.6(BRAF):c.592T>C (p.Tyr198His)
NM_004333.6(BRAF):c.593A>C (p.Tyr198Ser)
NM_004333.6(BRAF):c.600dup (p.Gln201fs)
NM_004333.6(BRAF):c.609-6T>C
NM_004333.6(BRAF):c.620C>T (p.Pro207Leu)
NM_004333.6(BRAF):c.626G>A (p.Gly209Asp)
NM_004333.6(BRAF):c.647G>C (p.Trp216Ser)
NM_004333.6(BRAF):c.649C>T (p.Leu217Phe)
NM_004333.6(BRAF):c.650T>A (p.Leu217His)
NM_004333.6(BRAF):c.65A>T (p.Asp22Val) rs1414371670
NM_004333.6(BRAF):c.667C>T (p.His223Tyr) rs2129047895
NM_004333.6(BRAF):c.679T>A (p.Leu227Met)
NM_004333.6(BRAF):c.67A>G (p.Met23Val) rs1818671266
NM_004333.6(BRAF):c.68T>G (p.Met23Arg)
NM_004333.6(BRAF):c.694C>G (p.Leu232Val)
NM_004333.6(BRAF):c.697A>G (p.Thr233Ala)
NM_004333.6(BRAF):c.707A>C (p.Asn236Thr) rs1803829907
NM_004333.6(BRAF):c.71A>C (p.Glu24Ala)
NM_004333.6(BRAF):c.731C>G (p.Thr244Ser)
NM_004333.6(BRAF):c.740T>G (p.Phe247Cys)
NM_004333.6(BRAF):c.754C>G (p.Arg252Gly)
NM_004333.6(BRAF):c.755G>A (p.Arg252Gln) rs1325951163
NM_004333.6(BRAF):c.76G>A (p.Glu26Lys) rs397507457
NM_004333.6(BRAF):c.779G>A (p.Arg260His) rs1586213318
NM_004333.6(BRAF):c.77_82dup (p.Ala27_Gly28insGluAla)
NM_004333.6(BRAF):c.80C>G (p.Ala27Gly)
NM_004333.6(BRAF):c.80C>T (p.Ala27Val) rs1206505128
NM_004333.6(BRAF):c.80_88del (p.Ala27_Ala29del)
NM_004333.6(BRAF):c.811C>T (p.Arg271Cys)
NM_004333.6(BRAF):c.81_101del (p.Gly28_Ala34del)
NM_004333.6(BRAF):c.825A>T (p.Glu275Asp) rs1803102591
NM_004333.6(BRAF):c.82G>T (p.Gly28Cys) rs1437317949
NM_004333.6(BRAF):c.83GCGCCG[1] (p.28GA[1]) rs397507458
NM_004333.6(BRAF):c.83GCGCCG[2] (p.28GA[2]) rs397507458
NM_004333.6(BRAF):c.83GCGCCG[4] (p.28GA[4]) rs397507458
NM_004333.6(BRAF):c.83GCGCCG[5] (p.28GA[5]) rs397507458
NM_004333.6(BRAF):c.84C>T (p.Gly28=) rs992354585
NM_004333.6(BRAF):c.861-6T>A
NM_004333.6(BRAF):c.876C>T (p.Ser292=) rs1554403310
NM_004333.6(BRAF):c.88G>A (p.Gly30Ser)
NM_004333.6(BRAF):c.88G>T (p.Gly30Cys)
NM_004333.6(BRAF):c.898A>C (p.Ile300Leu)
NM_004333.6(BRAF):c.89G>C (p.Gly30Ala)
NM_004333.6(BRAF):c.901C>A (p.Pro301Thr)
NM_004333.6(BRAF):c.907G>C (p.Glu303Gln) rs2129043697
NM_004333.6(BRAF):c.913G>A (p.Ala305Thr) rs964235659
NM_004333.6(BRAF):c.92C>T (p.Ala31Val) rs397516906
NM_004333.6(BRAF):c.934C>G (p.Leu312Val)
NM_004333.6(BRAF):c.943G>A (p.Gly315Arg)
NM_004333.6(BRAF):c.94G>A (p.Gly32Ser)
NM_004333.6(BRAF):c.950C>G (p.Ser317Cys)
NM_004333.6(BRAF):c.956C>T (p.Ser319Phe) rs886041599
NM_004333.6(BRAF):c.958G>A (p.Ala320Thr) rs1461617552
NM_004333.6(BRAF):c.964G>A (p.Ala322Thr)
NM_004333.6(BRAF):c.967T>C (p.Ser323Pro) rs730880414
NM_004333.6(BRAF):c.976A>C (p.Ile326Leu)
NM_004333.6(BRAF):c.97G>C (p.Ala33Pro)
NM_004333.6(BRAF):c.980+4T>C
NM_004985.5(KRAS):c.136A>G (p.Ile46Val)
NM_004985.5(KRAS):c.182A>G (p.Gln61Arg) rs121913240
NM_004985.5(KRAS):c.183A>C (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.225G>C (p.Gly75=)
NM_004985.5(KRAS):c.230G>T (p.Gly77Val)
NM_004985.5(KRAS):c.250A>G (p.Ile84Val) rs2141509513
NM_004985.5(KRAS):c.269T>A (p.Phe90Tyr)
NM_004985.5(KRAS):c.283C>A (p.His95Asn)
NM_004985.5(KRAS):c.324T>G (p.Asp108Glu) rs1264149117
NM_004985.5(KRAS):c.325G>A (p.Val109Ile)
NM_004985.5(KRAS):c.331A>G (p.Met111Val)
NM_004985.5(KRAS):c.332T>C (p.Met111Thr) rs1951384675
NM_004985.5(KRAS):c.352T>C (p.Cys118Arg) rs1951384485
NM_004985.5(KRAS):c.365C>G (p.Ser122Cys)
NM_004985.5(KRAS):c.373G>A (p.Val125Ile)
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile) rs1951383854
NM_004985.5(KRAS):c.418C>T (p.Pro140Ser)
NM_004985.5(KRAS):c.443C>G (p.Thr148Arg)
NM_004985.5(KRAS):c.450+3A>G
NM_004985.5(KRAS):c.450+5G>A
NM_004985.5(KRAS):c.470A>G (p.Tyr157Cys) rs794727720
NM_004985.5(KRAS):c.482G>A (p.Arg161Gln) rs2141481655
NM_004985.5(KRAS):c.508A>T (p.Met170Leu) rs369501492
NM_004985.5(KRAS):c.510G>C (p.Met170Ile)
NM_004985.5(KRAS):c.519_520inv (p.Gly174Ser)
NM_004985.5(KRAS):c.547A>G (p.Thr183Ala)
NM_004985.5(KRAS):c.548C>A (p.Thr183Lys)
NM_004985.5(KRAS):c.548C>G (p.Thr183Arg)
NM_004985.5(KRAS):c.550_551del (p.Lys184fs)
NM_004985.5(KRAS):c.556G>A (p.Val186Ile)
NM_004985.5(KRAS):c.563T>C (p.Met188Thr)
NM_004985.5(KRAS):c.98A>G (p.Asp33Gly)
NM_005188.4(CBL):c.1027C>G (p.Arg343Gly)
NM_005188.4(CBL):c.1033C>G (p.Gln345Glu) rs202095002
NM_005188.4(CBL):c.1039C>T (p.Pro347Ser)
NM_005188.4(CBL):c.1043A>G (p.Asp348Gly) rs1592400595
NM_005188.4(CBL):c.1049C>T (p.Thr350Ile)
NM_005188.4(CBL):c.106C>A (p.His36Asn)
NM_005188.4(CBL):c.107ACC[11] (p.His39_His42dup) rs373212940
NM_005188.4(CBL):c.107ACC[4] (p.His40_His42del) rs373212940
NM_005188.4(CBL):c.107ACC[5] (p.His41_His42del)
NM_005188.4(CBL):c.107ACC[9] (p.His41_His42dup) rs373212940
NM_005188.4(CBL):c.1081A>G (p.Ile361Val)
NM_005188.4(CBL):c.1082T>C (p.Ile361Thr)
NM_005188.4(CBL):c.1088T>C (p.Val363Ala) rs1592400621
NM_005188.4(CBL):c.1088T>G (p.Val363Gly) rs1592400621
NM_005188.4(CBL):c.108C>G (p.His36Gln) rs748961080
NM_005188.4(CBL):c.1091C>T (p.Thr364Ile) rs2135303015
NM_005188.4(CBL):c.1095+18_1095+19delinsGT rs2135303045
NM_005188.4(CBL):c.1096-26_1099inv
NM_005188.4(CBL):c.1096-7A>G rs1057517968
NM_005188.4(CBL):c.1097A>G (p.Glu366Gly)
NM_005188.4(CBL):c.1107_1118del (p.Leu370_Glu373del)
NM_005188.4(CBL):c.1110A>C (p.Leu370Phe)
NM_005188.4(CBL):c.1119G>T (p.Glu373Asp) rs571152174
NM_005188.4(CBL):c.1120A>T (p.Met374Leu)
NM_005188.4(CBL):c.1126T>C (p.Ser376Pro)
NM_005188.4(CBL):c.1129del (p.Thr377fs)
NM_005188.4(CBL):c.1132_1137del (p.Phe378_Gln379del) rs2135303632
NM_005188.4(CBL):c.1137A>C (p.Gln379His) rs757933118
NM_005188.4(CBL):c.1141T>C (p.Cys381Arg) rs757874631
NM_005188.4(CBL):c.1142G>A (p.Cys381Tyr)
NM_005188.4(CBL):c.1144A>G (p.Lys382Glu) rs267606705
NM_005188.4(CBL):c.1145A>G (p.Lys382Arg)
NM_005188.4(CBL):c.1147A>C (p.Ile383Leu)
NM_005188.4(CBL):c.1148T>C (p.Ile383Thr)
NM_005188.4(CBL):c.1149A>G (p.Ile383Met) rs2135303712
NM_005188.4(CBL):c.114C>G (p.His38Gln)
NM_005188.4(CBL):c.1150T>C (p.Cys384Arg) rs387906664
NM_005188.4(CBL):c.1150T>G (p.Cys384Gly) rs387906664
NM_005188.4(CBL):c.1151G>A (p.Cys384Tyr)
NM_005188.4(CBL):c.1153G>A (p.Ala385Thr)
NM_005188.4(CBL):c.1163A>G (p.Asp388Gly) rs2135303762
NM_005188.4(CBL):c.1165A>G (p.Lys389Glu) rs1060500676
NM_005188.4(CBL):c.1167G>C (p.Lys389Asn)
NM_005188.4(CBL):c.1167G>T (p.Lys389Asn) rs773598122
NM_005188.4(CBL):c.1169A>T (p.Asp390Val) rs763058208
NM_005188.4(CBL):c.1175A>T (p.Lys392Met) rs2135303785
NM_005188.4(CBL):c.1183C>T (p.Pro395Ser)
NM_005188.4(CBL):c.1186T>C (p.Cys396Arg) rs387906665
NM_005188.4(CBL):c.1187G>A (p.Cys396Tyr) rs1949905062
NM_005188.4(CBL):c.1196T>A (p.Leu399His)
NM_005188.4(CBL):c.1196T>C (p.Leu399Pro)
NM_005188.4(CBL):c.1198A>C (p.Met400Leu)
NM_005188.4(CBL):c.1198A>G (p.Met400Val)
NM_005188.4(CBL):c.1198A>T (p.Met400Leu)
NM_005188.4(CBL):c.1199T>C (p.Met400Thr) rs397507491
NM_005188.4(CBL):c.1201T>C (p.Cys401Arg) rs397507492
NM_005188.4(CBL):c.1202G>T (p.Cys401Phe) rs1357686410
NM_005188.4(CBL):c.1210T>A (p.Cys404Ser) rs1949905314
NM_005188.4(CBL):c.1210T>C (p.Cys404Arg) rs1949905314
NM_005188.4(CBL):c.1219T>C (p.Ser407Pro)
NM_005188.4(CBL):c.121C>T (p.His41Tyr)
NM_005188.4(CBL):c.121_129dup (p.Leu43_Ser44insHisHisLeu)
NM_005188.4(CBL):c.1220C>A (p.Ser407Tyr) rs2135303902
NM_005188.4(CBL):c.1220C>T (p.Ser407Phe)
NM_005188.4(CBL):c.1227+2T>C
NM_005188.4(CBL):c.1227+5G>C
NM_005188.4(CBL):c.1231_1236del (p.Ser411_Glu412del) rs2135304373
NM_005188.4(CBL):c.1237G>A (p.Gly413Ser) rs371679886
NM_005188.4(CBL):c.1238G>A (p.Gly413Asp) rs2135304402
NM_005188.4(CBL):c.1243G>A (p.Gly415Ser) rs756530482
NM_005188.4(CBL):c.1246T>A (p.Cys416Ser) rs1949907918
NM_005188.4(CBL):c.1246T>C (p.Cys416Arg)
NM_005188.4(CBL):c.1247G>A (p.Cys416Tyr)
NM_005188.4(CBL):c.1247G>C (p.Cys416Ser) rs757456261
NM_005188.4(CBL):c.1250C>G (p.Pro417Arg)
NM_005188.4(CBL):c.1253T>C (p.Phe418Ser) rs772156285
NM_005188.4(CBL):c.1254C>G (p.Phe418Leu)
NM_005188.4(CBL):c.1256G>A (p.Cys419Tyr)
NM_005188.4(CBL):c.1258C>G (p.Arg420Gly)
NM_005188.4(CBL):c.1259G>C (p.Arg420Pro)
NM_005188.4(CBL):c.1259G>T (p.Arg420Leu) rs267606708
NM_005188.4(CBL):c.1263T>G (p.Cys421Trp) rs1592401139
NM_005188.4(CBL):c.1274G>A (p.Gly425Asp) rs1949908282
NM_005188.4(CBL):c.127C>A (p.Leu43Ile) rs1358704061
NM_005188.4(CBL):c.127C>T (p.Leu43Phe)
NM_005188.4(CBL):c.127_129dup (p.Leu43dup) rs1555225106
NM_005188.4(CBL):c.1286T>A (p.Ile429Asn)
NM_005188.4(CBL):c.1298C>A (p.Pro433Gln) rs140627020
NM_005188.4(CBL):c.1306C>T (p.Pro436Ser)
NM_005188.4(CBL):c.1319G>T (p.Gly440Val) rs757570929
NM_005188.4(CBL):c.1321A>C (p.Ser441Arg)
NM_005188.4(CBL):c.1322G>T (p.Ser441Ile)
NM_005188.4(CBL):c.1346del (p.Gly449fs) rs1592401235
NM_005188.4(CBL):c.1349C>T (p.Ala450Val)
NM_005188.4(CBL):c.1351C>G (p.Pro451Ala) rs886041313
NM_005188.4(CBL):c.1361A>G (p.Asn454Ser) rs2135304767
NM_005188.4(CBL):c.1363T>G (p.Tyr455Asp)
NM_005188.4(CBL):c.1365TGA[3] (p.Asp458_Asp460del)
NM_005188.4(CBL):c.1365TGA[5] (p.Asp460del) rs397507494
NM_005188.4(CBL):c.136C>T (p.His46Tyr)
NM_005188.4(CBL):c.1384C>T (p.Arg462Ter) rs886041425
NM_005188.4(CBL):c.1385G>A (p.Arg462Gln)
NM_005188.4(CBL):c.1393G>A (p.Asp465Asn) rs2135304845
NM_005188.4(CBL):c.1400T>C (p.Leu467Pro) rs1385198964
NM_005188.4(CBL):c.1401_1402del (p.Phe468fs) rs2135304862
NM_005188.4(CBL):c.1406T>C (p.Met469Thr)
NM_005188.4(CBL):c.1431+6A>G
NM_005188.4(CBL):c.1435G>T (p.Glu479Ter)
NM_005188.4(CBL):c.1436A>T (p.Glu479Val)
NM_005188.4(CBL):c.143C>T (p.Pro48Leu)
NM_005188.4(CBL):c.1442C>T (p.Pro481Leu)
NM_005188.4(CBL):c.1457C>T (p.Ser486Phe)
NM_005188.4(CBL):c.1463C>A (p.Ala488Asp)
NM_005188.4(CBL):c.1466dup (p.Gln490fs)
NM_005188.4(CBL):c.1471G>A (p.Ala491Thr)
NM_005188.4(CBL):c.1480C>G (p.Pro494Ala)
NM_005188.4(CBL):c.1484C>A (p.Pro495Gln)
NM_005188.4(CBL):c.1484del (p.Pro495fs) rs2135310015
NM_005188.4(CBL):c.1496G>A (p.Arg499Gln) rs1949969900
NM_005188.4(CBL):c.1499T>C (p.Leu500Pro)
NM_005188.4(CBL):c.149C>T (p.Thr50Met)
NM_005188.4(CBL):c.1504C>T (p.Leu502Phe)
NM_005188.4(CBL):c.1517G>A (p.Arg506Gln)
NM_005188.4(CBL):c.1523G>A (p.Cys508Tyr)
NM_005188.4(CBL):c.1523G>C (p.Cys508Ser) rs2135310108
NM_005188.4(CBL):c.1527_1528delinsCT (p.Pro510Ser)
NM_005188.4(CBL):c.1534del (p.Ser512fs)
NM_005188.4(CBL):c.1537G>A (p.Ala513Thr) rs200442365
NM_005188.4(CBL):c.1538C>T (p.Ala513Val) rs1949970576
NM_005188.4(CBL):c.1543G>C (p.Ala515Pro) rs1171133734
NM_005188.4(CBL):c.1547T>C (p.Leu516Pro)
NM_005188.4(CBL):c.1561A>G (p.Lys521Glu)
NM_005188.4(CBL):c.1562A>T (p.Lys521Met)
NM_005188.4(CBL):c.1563+1G>A
NM_005188.4(CBL):c.1564-3C>T rs1555230585
NM_005188.4(CBL):c.156C>A (p.Asp52Glu) rs2135244248
NM_005188.4(CBL):c.1570T>G (p.Ser524Ala)
NM_005188.4(CBL):c.1579C>T (p.Leu527Phe)
NM_005188.4(CBL):c.1585A>G (p.Lys529Glu)
NM_005188.4(CBL):c.158A>G (p.Lys53Arg)
NM_005188.4(CBL):c.1598T>C (p.Leu533Ser)
NM_005188.4(CBL):c.1598dup (p.Leu533fs)
NM_005188.4(CBL):c.160A>G (p.Lys54Glu)
NM_005188.4(CBL):c.1618C>T (p.Arg540Ter) rs764340189
NM_005188.4(CBL):c.1619G>A (p.Arg540Gln) rs980503623
NM_005188.4(CBL):c.1622A>G (p.Asp541Gly)
NM_005188.4(CBL):c.1630C>T (p.Pro544Ser)
NM_005188.4(CBL):c.1633C>G (p.Pro545Ala)
NM_005188.4(CBL):c.1633C>T (p.Pro545Ser)
NM_005188.4(CBL):c.1634C>A (p.Pro545Gln) rs1949973481
NM_005188.4(CBL):c.1634C>T (p.Pro545Leu) rs1949973481
NM_005188.4(CBL):c.1655A>G (p.Tyr552Cys)
NM_005188.4(CBL):c.1675C>G (p.Arg559Gly) rs779425249
NM_005188.4(CBL):c.1696C>A (p.Pro566Thr)
NM_005188.4(CBL):c.1697C>G (p.Pro566Arg) rs1428398685
NM_005188.4(CBL):c.1699_1701dup (p.Cys567_Thr568insCys)
NM_005188.4(CBL):c.1700G>A (p.Cys567Tyr) rs1949974480
NM_005188.4(CBL):c.1710C>T (p.Gly570=)
NM_005188.4(CBL):c.1711G>A (p.Asp571Asn) rs483352825
NM_005188.4(CBL):c.1717C>T (p.Pro573Ser)
NM_005188.4(CBL):c.1732dup (p.Leu578fs) rs1949974996
NM_005188.4(CBL):c.1733T>C (p.Leu578Pro) rs776651600
NM_005188.4(CBL):c.1735C>G (p.Pro579Ala) rs752260506
NM_005188.4(CBL):c.173A>G (p.Lys58Arg)
NM_005188.4(CBL):c.1742T>G (p.Val581Gly)
NM_005188.4(CBL):c.1744C>A (p.Pro582Thr) rs2135310666
NM_005188.4(CBL):c.1745C>T (p.Pro582Leu) rs1949975295
NM_005188.4(CBL):c.1754G>A (p.Arg585His) rs727504640
NM_005188.4(CBL):c.1754G>C (p.Arg585Pro)
NM_005188.4(CBL):c.1754G>T (p.Arg585Leu) rs727504640
NM_005188.4(CBL):c.1757T>C (p.Leu586Pro)
NM_005188.4(CBL):c.1765T>C (p.Ser589Pro) rs1555230612
NM_005188.4(CBL):c.1768T>G (p.Trp590Gly)
NM_005188.4(CBL):c.1769G>C (p.Trp590Ser)
NM_005188.4(CBL):c.1771C>G (p.Leu591Val) rs1060500679
NM_005188.4(CBL):c.1778G>A (p.Arg593Gln) rs730880435
NM_005188.4(CBL):c.1781C>T (p.Pro594Leu)
NM_005188.4(CBL):c.1789A>G (p.Lys597Glu) rs1949976299
NM_005188.4(CBL):c.1790A>G (p.Lys597Arg) rs1363189852
NM_005188.4(CBL):c.1792G>A (p.Val598Ile)
NM_005188.4(CBL):c.1793T>A (p.Val598Glu) rs1060500675
NM_005188.4(CBL):c.1795C>A (p.Pro599Thr) rs1340017837
NM_005188.4(CBL):c.1795C>G (p.Pro599Ala) rs1340017837
NM_005188.4(CBL):c.1801T>C (p.Ser601Pro) rs1271364778
NM_005188.4(CBL):c.1810A>G (p.Ser604Gly) rs1555230616
NM_005188.4(CBL):c.1816A>G (p.Ser606Gly)
NM_005188.4(CBL):c.1818T>A (p.Ser606Arg)
NM_005188.4(CBL):c.1821T>A (p.Asp607Glu) rs2135310845
NM_005188.4(CBL):c.1822C>T (p.Pro608Ser) rs763666786
NM_005188.4(CBL):c.1823C>A (p.Pro608His) rs397507495
NM_005188.4(CBL):c.182A>G (p.Lys61Arg)
NM_005188.4(CBL):c.1831G>C (p.Gly611Arg)
NM_005188.4(CBL):c.1834A>G (p.Arg612Gly)
NM_005188.4(CBL):c.1837G>T (p.Glu613Ter)
NM_005188.4(CBL):c.1847A>C (p.Asn616Thr) rs376094293
NM_005188.4(CBL):c.1847A>G (p.Asn616Ser)
NM_005188.4(CBL):c.1847A>T (p.Asn616Ile)
NM_005188.4(CBL):c.184C>G (p.Leu62Val) rs1459635883
NM_005188.4(CBL):c.1850G>T (p.Arg617Leu) rs780457588
NM_005188.4(CBL):c.1858C>G (p.Leu620Val)
NM_005188.4(CBL):c.185T>A (p.Leu62His)
NM_005188.4(CBL):c.1912G>A (p.Gly638Arg)
NM_005188.4(CBL):c.1915A>G (p.Ser639Gly)
NM_005188.4(CBL):c.1917C>G (p.Ser639Arg)
NM_005188.4(CBL):c.1919C>T (p.Thr640Met)
NM_005188.4(CBL):c.1928T>C (p.Leu643Pro)
NM_005188.4(CBL):c.192C>A (p.Asp64Glu)
NM_005188.4(CBL):c.192C>G (p.Asp64Glu) rs1565851628
NM_005188.4(CBL):c.1934C>T (p.Thr645Ile)
NM_005188.4(CBL):c.1937C>T (p.Ser646Phe)
NM_005188.4(CBL):c.1941+2T>G
NM_005188.4(CBL):c.1941+4A>C
NM_005188.4(CBL):c.1945A>G (p.Met649Val) rs769423231
NM_005188.4(CBL):c.1949_1951del (p.Asn650del)
NM_005188.4(CBL):c.195+5A>G rs1949271201
NM_005188.4(CBL):c.1951A>G (p.Ser651Gly)
NM_005188.4(CBL):c.1953C>A (p.Ser651Arg)
NM_005188.4(CBL):c.1954A>C (p.Ser652Arg) rs1055456727
NM_005188.4(CBL):c.1957C>T (p.Pro653Ser) rs1591265497
NM_005188.4(CBL):c.1958C>T (p.Pro653Leu)
NM_005188.4(CBL):c.1962A>T (p.Leu654Phe) rs727502915
NM_005188.4(CBL):c.196G>A (p.Val66Met)
NM_005188.4(CBL):c.1991T>C (p.Ile664Thr) rs397507496
NM_005188.4(CBL):c.1A>G (p.Met1Val)
NM_005188.4(CBL):c.2009C>T (p.Ala670Val)
NM_005188.4(CBL):c.2015C>A (p.Ala672Asp)
NM_005188.4(CBL):c.2017A>G (p.Ile673Val) rs1439055502
NM_005188.4(CBL):c.2021A>G (p.Tyr674Cys) rs768160029
NM_005188.4(CBL):c.2024C>A (p.Ser675Tyr)
NM_005188.4(CBL):c.2041_2044inv (p.Leu681_Pro682delinsGluAla)
NM_005188.4(CBL):c.2047G>A (p.Val683Met) rs2135319783
NM_005188.4(CBL):c.2050C>T (p.Pro684Ser) rs587778154
NM_005188.4(CBL):c.2053A>C (p.Lys685Gln) rs1555027603
NM_005188.4(CBL):c.2056C>G (p.Leu686Val)
NM_005188.4(CBL):c.2063C>G (p.Pro688Arg)
NM_005188.4(CBL):c.2065G>T (p.Gly689Trp)
NM_005188.4(CBL):c.2069A>T (p.Glu690Val)
NM_005188.4(CBL):c.206T>C (p.Leu69Ser)
NM_005188.4(CBL):c.2077G>A (p.Glu693Lys) rs587778156
NM_005188.4(CBL):c.2093C>A (p.Thr698Lys) rs1565272125
NM_005188.4(CBL):c.2095G>A (p.Glu699Lys)
NM_005188.4(CBL):c.2097G>C (p.Glu699Asp) rs1057519031
NM_005188.4(CBL):c.2100C>A (p.Tyr700Ter)
NM_005188.4(CBL):c.2107C>T (p.Pro703Ser)
NM_005188.4(CBL):c.2116A>T (p.Arg706Trp)
NM_005188.4(CBL):c.2120C>G (p.Pro707Arg) rs576175174
NM_005188.4(CBL):c.2135A>G (p.Asp712Gly)
NM_005188.4(CBL):c.213_214del (p.Asn72fs)
NM_005188.4(CBL):c.2144A>C (p.Gln715Pro)
NM_005188.4(CBL):c.2146A>G (p.Ser716Gly)
NM_005188.4(CBL):c.2152C>T (p.Arg718Ter)
NM_005188.4(CBL):c.2153+5G>C
NM_005188.4(CBL):c.2155G>T (p.Ala719Ser)
NM_005188.4(CBL):c.2161G>T (p.Asp721Tyr)
NM_005188.4(CBL):c.2164T>G (p.Cys722Gly)
NM_005188.4(CBL):c.2167G>A (p.Asp723Asn)
NM_005188.4(CBL):c.2177T>C (p.Ile726Thr)
NM_005188.4(CBL):c.2180A>G (p.Asp727Gly)
NM_005188.4(CBL):c.2192A>G (p.Tyr731Cys) rs1212670088
NM_005188.4(CBL):c.2201T>C (p.Met734Thr)
NM_005188.4(CBL):c.2202_2203dup (p.Tyr735fs)
NM_005188.4(CBL):c.2212C>G (p.Gln738Glu)
NM_005188.4(CBL):c.2228C>G (p.Ser743Cys)
NM_005188.4(CBL):c.2231T>G (p.Ile744Ser)
NM_005188.4(CBL):c.2232C>G (p.Ile744Met)
NM_005188.4(CBL):c.2236G>A (p.Glu746Lys)
NM_005188.4(CBL):c.223C>G (p.Leu75Val)
NM_005188.4(CBL):c.2249_2251dup (p.Phe750_Gly751insVal) rs1950072398
NM_005188.4(CBL):c.2251+6T>A
NM_005188.4(CBL):c.2252-2A>G rs1950077587
NM_005188.4(CBL):c.2252G>C (p.Gly751Ala)
NM_005188.4(CBL):c.2252G>T (p.Gly751Val) rs2135320929
NM_005188.4(CBL):c.2260A>G (p.Asn754Asp)
NM_005188.4(CBL):c.2266G>T (p.Ala756Ser)
NM_005188.4(CBL):c.226G>A (p.Ala76Thr) rs1483168332
NM_005188.4(CBL):c.2270C>T (p.Ala757Val) rs1489560722
NM_005188.4(CBL):c.2273C>T (p.Ala758Val)
NM_005188.4(CBL):c.227C>A (p.Ala76Glu) rs757898729
NM_005188.4(CBL):c.2282A>G (p.Asn761Ser)
NM_005188.4(CBL):c.2284A>G (p.Thr762Ala)
NM_005188.4(CBL):c.2285C>G (p.Thr762Ser)
NM_005188.4(CBL):c.2291C>G (p.Pro764Arg)
NM_005188.4(CBL):c.2293G>A (p.Glu765Lys)
NM_005188.4(CBL):c.2300C>T (p.Ser767Leu)
NM_005188.4(CBL):c.2309A>G (p.Glu770Gly)
NM_005188.4(CBL):c.2314G>A (p.Asp772Asn) rs1950078039
NM_005188.4(CBL):c.2315A>T (p.Asp772Val) rs2135321028
NM_005188.4(CBL):c.2338C>T (p.Pro780Ser) rs1555027886
NM_005188.4(CBL):c.2341G>C (p.Val781Leu)
NM_005188.4(CBL):c.2347G>T (p.Ala783Ser)
NM_005188.4(CBL):c.2349C>A (p.Ala783=) rs552509693
NM_005188.4(CBL):c.2350G>C (p.Val784Leu) rs140725852
NM_005188.4(CBL):c.2356del (p.Ala786fs)
NM_005188.4(CBL):c.2357C>T (p.Ala786Val)
NM_005188.4(CBL):c.235A>G (p.Asn79Asp)
NM_005188.4(CBL):c.2363G>C (p.Arg788Pro)
NM_005188.4(CBL):c.2369T>A (p.Leu790His) rs1950078661
NM_005188.4(CBL):c.2377A>G (p.Ile793Val)
NM_005188.4(CBL):c.2378T>C (p.Ile793Thr)
NM_005188.4(CBL):c.2381C>G (p.Ser794Cys)
NM_005188.4(CBL):c.2389A>G (p.Ser797Gly)
NM_005188.4(CBL):c.2390G>A (p.Ser797Asn)
NM_005188.4(CBL):c.2393CCT[1] (p.Ser799del) rs755938138
NM_005188.4(CBL):c.2396C>T (p.Ser799Phe)
NM_005188.4(CBL):c.2399T>G (p.Phe800Cys) rs1285510326
NM_005188.4(CBL):c.239G>A (p.Ser80Asn)
NM_005188.4(CBL):c.2404T>A (p.Trp802Arg) rs2135321282
NM_005188.4(CBL):c.2406G>A (p.Trp802Ter)
NM_005188.4(CBL):c.2408T>C (p.Leu803Ser) rs2135321296
NM_005188.4(CBL):c.2413C>G (p.Leu805Val) rs1950079119
NM_005188.4(CBL):c.2418T>G (p.Asp806Glu)
NM_005188.4(CBL):c.2420G>A (p.Gly807Asp)
NM_005188.4(CBL):c.2428A>G (p.Thr810Ala)
NM_005188.4(CBL):c.2429CAA[1] (p.Thr811del)
NM_005188.4(CBL):c.2432C>A (p.Thr811Lys)
NM_005188.4(CBL):c.2434+2T>A
NM_005188.4(CBL):c.2434+3G>A rs2135321343
NM_005188.4(CBL):c.2434A>G (p.Asn812Asp) rs907398440
NM_005188.4(CBL):c.2435-1_2435del rs749424087
NM_005188.4(CBL):c.2443G>A (p.Glu815Lys)
NM_005188.4(CBL):c.2452C>T (p.Gln818Ter)
NM_005188.4(CBL):c.2453A>C (p.Gln818Pro)
NM_005188.4(CBL):c.2458C>T (p.Pro820Ser)
NM_005188.4(CBL):c.2467C>T (p.Pro823Ser)
NM_005188.4(CBL):c.2470C>T (p.Pro824Ser)
NM_005188.4(CBL):c.2471C>T (p.Pro824Leu) rs2135322034
NM_005188.4(CBL):c.2483C>T (p.Pro828Leu)
NM_005188.4(CBL):c.248A>G (p.Tyr83Cys) rs1555226659
NM_005188.4(CBL):c.2494_2495del (p.Asn832fs)
NM_005188.4(CBL):c.2502A>T (p.Glu834Asp) rs1950085952
NM_005188.4(CBL):c.2504G>A (p.Arg835Gln) rs1057518072
NM_005188.4(CBL):c.2509G>A (p.Ala837Thr) rs1950086093
NM_005188.4(CBL):c.250A>G (p.Ile84Val)
NM_005188.4(CBL):c.2519G>A (p.Cys840Tyr) rs376536789
NM_005188.4(CBL):c.251T>C (p.Ile84Thr)
NM_005188.4(CBL):c.2530A>G (p.Ser844Gly)
NM_005188.4(CBL):c.2531G>A (p.Ser844Asn)
NM_005188.4(CBL):c.2536C>T (p.Pro846Ser)
NM_005188.4(CBL):c.2542G>T (p.Ala848Ser)
NM_005188.4(CBL):c.2546C>T (p.Ser849Phe)
NM_005188.4(CBL):c.2551G>T (p.Ala851Ser)
NM_005188.4(CBL):c.2554A>C (p.Thr852Pro)
NM_005188.4(CBL):c.2558C>T (p.Ala853Val)
NM_005188.4(CBL):c.2569_2574dup (p.Ser858_Ser859insLeuSer)
NM_005188.4(CBL):c.2573C>G (p.Ser858Cys)
NM_005188.4(CBL):c.2573C>T (p.Ser858Phe) rs2135322201
NM_005188.4(CBL):c.2579A>T (p.Glu860Val) rs1950087188
NM_005188.4(CBL):c.2590C>G (p.Leu864Val) rs2135322234
NM_005188.4(CBL):c.2599C>T (p.Gln867Ter)
NM_005188.4(CBL):c.25T>C (p.Ser9Pro) rs1170501749
NM_005188.4(CBL):c.2600A>C (p.Gln867Pro)
NM_005188.4(CBL):c.260T>A (p.Leu87Gln) rs2135266203
NM_005188.4(CBL):c.2614C>G (p.Gln872Glu) rs746795014
NM_005188.4(CBL):c.2629G>C (p.Ala877Pro)
NM_005188.4(CBL):c.263T>C (p.Leu88Pro)
NM_005188.4(CBL):c.2642C>G (p.Ala881Gly)
NM_005188.4(CBL):c.2644C>A (p.Gln882Lys)
NM_005188.4(CBL):c.265C>T (p.Pro89Ser) rs1949511407
NM_005188.4(CBL):c.2684T>C (p.Phe895Ser)
NM_005188.4(CBL):c.2686G>A (p.Val896Ile) rs2135322351
NM_005188.4(CBL):c.2687T>C (p.Val896Ala)
NM_005188.4(CBL):c.2694T>G (p.Ile898Met)
NM_005188.4(CBL):c.269A>G (p.Asp90Gly) rs1555226661
NM_005188.4(CBL):c.26C>T (p.Ser9Phe)
NM_005188.4(CBL):c.2701_2703del (p.Pro901del)
NM_005188.4(CBL):c.2708A>G (p.His903Arg) rs1950088762
NM_005188.4(CBL):c.2710_2711del (p.Val904fs)
NM_005188.4(CBL):c.2714C>A (p.Ala905Asp)
NM_005188.4(CBL):c.272C>A (p.Thr91Asn)
NM_005188.4(CBL):c.287G>A (p.Arg96His)
NM_005188.4(CBL):c.313A>C (p.Lys105Gln)
NM_005188.4(CBL):c.320A>C (p.Glu107Ala)
NM_005188.4(CBL):c.326T>C (p.Leu109Pro)
NM_005188.4(CBL):c.328G>A (p.Gly110Arg) rs1565859798
NM_005188.4(CBL):c.32C>A (p.Ala11Asp)
NM_005188.4(CBL):c.32C>T (p.Ala11Val)
NM_005188.4(CBL):c.337G>A (p.Glu113Lys)
NM_005188.4(CBL):c.338A>C (p.Glu113Ala)
NM_005188.4(CBL):c.346A>G (p.Arg116Gly)
NM_005188.4(CBL):c.355A>G (p.Met119Val) rs1173256276
NM_005188.4(CBL):c.357G>A (p.Met119Ile) rs1490142046
NM_005188.4(CBL):c.357G>T (p.Met119Ile) rs1490142046
NM_005188.4(CBL):c.367A>G (p.Met123Val) rs1949512275
NM_005188.4(CBL):c.372G>C (p.Lys124Asn)
NM_005188.4(CBL):c.37G>A (p.Gly13Ser)
NM_005188.4(CBL):c.383A>G (p.Gln128Arg)
NM_005188.4(CBL):c.385A>G (p.Thr129Ala)
NM_005188.4(CBL):c.394del (p.Leu132fs)
NM_005188.4(CBL):c.401A>G (p.Lys134Arg) rs2135266374
NM_005188.4(CBL):c.406G>A (p.Gly136Arg) rs2135266379
NM_005188.4(CBL):c.40G>A (p.Gly14Ser) rs1565851542
NM_005188.4(CBL):c.419T>G (p.Met140Arg) rs1555226684
NM_005188.4(CBL):c.420G>A (p.Met140Ile) rs2135266393
NM_005188.4(CBL):c.421T>C (p.Tyr141His)
NM_005188.4(CBL):c.438G>C (p.Gln146His)
NM_005188.4(CBL):c.438G>T (p.Gln146His)
NM_005188.4(CBL):c.43_44delinsCC (p.Ser15Pro) rs1555225091
NM_005188.4(CBL):c.443+18C>T
NM_005188.4(CBL):c.444-10T>C
NM_005188.4(CBL):c.444-14C>A
NM_005188.4(CBL):c.444-3T>C
NM_005188.4(CBL):c.444-5del
NM_005188.4(CBL):c.445C>T (p.Arg149Ter) rs267602720
NM_005188.4(CBL):c.453A>C (p.Leu151=)
NM_005188.4(CBL):c.454A>C (p.Thr152Pro)
NM_005188.4(CBL):c.455C>A (p.Thr152Asn)
NM_005188.4(CBL):c.457A>G (p.Lys153Glu)
NM_005188.4(CBL):c.471C>G (p.Ile157Met)
NM_005188.4(CBL):c.473T>C (p.Phe158Ser) rs2135297020
NM_005188.4(CBL):c.481A>C (p.Met161Leu)
NM_005188.4(CBL):c.482T>A (p.Met161Lys)
NM_005188.4(CBL):c.493C>G (p.Leu165Val) rs1555229540
NM_005188.4(CBL):c.498A>C (p.Lys166Asn) rs1565870421
NM_005188.4(CBL):c.49T>C (p.Ser17Pro)
NM_005188.4(CBL):c.522T>G (p.Phe174Leu)
NM_005188.4(CBL):c.538C>T (p.Arg180Trp)
NM_005188.4(CBL):c.550G>A (p.Ala184Thr)
NM_005188.4(CBL):c.55G>A (p.Gly19Ser) rs1257650494
NM_005188.4(CBL):c.586dup (p.Glu196fs) rs2135297170
NM_005188.4(CBL):c.590+2T>G
NM_005188.4(CBL):c.590+3A>C
NM_005188.4(CBL):c.591-3C>G
NM_005188.4(CBL):c.59C>T (p.Ser20Leu)
NM_005188.4(CBL):c.619C>A (p.Gln207Lys)
NM_005188.4(CBL):c.628C>G (p.His210Asp)
NM_005188.4(CBL):c.634G>A (p.Val212Met)
NM_005188.4(CBL):c.643A>G (p.Ile215Val)
NM_005188.4(CBL):c.646A>G (p.Ser216Gly)
NM_005188.4(CBL):c.650C>G (p.Ser217Cys)
NM_005188.4(CBL):c.650C>T (p.Ser217Phe)
NM_005188.4(CBL):c.656T>C (p.Leu219Pro) rs895664191
NM_005188.4(CBL):c.664A>G (p.Met222Val)
NM_005188.4(CBL):c.665T>C (p.Met222Thr) rs1057518053
NM_005188.4(CBL):c.686A>G (p.Asp229Gly)
NM_005188.4(CBL):c.68G>C (p.Gly23Ala)
NM_005188.4(CBL):c.704A>G (p.Tyr235Cys)
NM_005188.4(CBL):c.710C>A (p.Ser237Ter)
NM_005188.4(CBL):c.727A>T (p.Ile243Phe)
NM_005188.4(CBL):c.728T>C (p.Ile243Thr) rs1268100574
NM_005188.4(CBL):c.747+3A>G rs1592398477
NM_005188.4(CBL):c.747G>A (p.Gln249=) rs1949869019
NM_005188.4(CBL):c.748-3T>C rs1060500677
NM_005188.4(CBL):c.765C>G (p.Leu255=)
NM_005188.4(CBL):c.77T>C (p.Ile26Thr) rs2135244100
NM_005188.4(CBL):c.785C>T (p.Ala262Val) rs1949876321
NM_005188.4(CBL):c.80G>T (p.Gly27Val) rs933058944
NM_005188.4(CBL):c.82C>T (p.Leu28Phe)
NM_005188.4(CBL):c.838C>G (p.Arg280Gly)
NM_005188.4(CBL):c.83T>C (p.Leu28Pro)
NM_005188.4(CBL):c.851T>C (p.Phe284Ser)
NM_005188.4(CBL):c.85A>G (p.Met29Val)
NM_005188.4(CBL):c.864dup (p.Gly289fs)
NM_005188.4(CBL):c.866G>T (p.Gly289Val) rs2135300624
NM_005188.4(CBL):c.880C>T (p.Arg294Trp)
NM_005188.4(CBL):c.892A>C (p.Thr298Pro) rs1949886947
NM_005188.4(CBL):c.895C>T (p.Arg299Cys) rs1053471259
NM_005188.4(CBL):c.8G>T (p.Gly3Val) rs1362763825
NM_005188.4(CBL):c.913A>G (p.Ile305Val)
NM_005188.4(CBL):c.929C>G (p.Ala310Gly)
NM_005188.4(CBL):c.936G>T (p.Gly312=) rs1949887269
NM_005188.4(CBL):c.938A>G (p.Asn313Ser)
NM_005188.4(CBL):c.940A>T (p.Ile314Phe)
NM_005188.4(CBL):c.94G>A (p.Ala32Thr) rs2135244138
NM_005188.4(CBL):c.952A>G (p.Ile318Val)
NM_005188.4(CBL):c.960C>A (p.His320Gln) rs1949887450
NM_005188.4(CBL):c.98T>A (p.Phe33Tyr) rs987225083
NM_005633.4(SOS1):c.1034C>A (p.Ala345Asp)
NM_005633.4(SOS1):c.1047C>G (p.His349Gln)
NM_005633.4(SOS1):c.1074+12_1074+14delinsGAA
NM_005633.4(SOS1):c.1093G>C (p.Glu365Gln)
NM_005633.4(SOS1):c.1098T>A (p.Asp366Glu) rs730881040
NM_005633.4(SOS1):c.1099C>G (p.Gln367Glu)
NM_005633.4(SOS1):c.1100A>G (p.Gln367Arg)
NM_005633.4(SOS1):c.1100A>T (p.Gln367Leu) rs2124539658
NM_005633.4(SOS1):c.1127C>G (p.Ala376Gly)
NM_005633.4(SOS1):c.1129A>G (p.Ile377Val)
NM_005633.4(SOS1):c.1150C>G (p.Gln384Glu)
NM_005633.4(SOS1):c.1165A>G (p.Lys389Glu) rs2124539595
NM_005633.4(SOS1):c.1166A>C (p.Lys389Thr)
NM_005633.4(SOS1):c.1175C>T (p.Ser392Phe)
NM_005633.4(SOS1):c.1180A>C (p.Ser394Arg)
NM_005633.4(SOS1):c.1199dup (p.Ser401fs) rs2124539539
NM_005633.4(SOS1):c.11A>G (p.Gln4Arg)
NM_005633.4(SOS1):c.1206A>C (p.Glu402Asp)
NM_005633.4(SOS1):c.1210G>C (p.Ala404Pro)
NM_005633.4(SOS1):c.1220T>A (p.Phe407Tyr)
NM_005633.4(SOS1):c.1235T>C (p.Met412Thr)
NM_005633.4(SOS1):c.124G>A (p.Asp42Asn) rs1402273679
NM_005633.4(SOS1):c.1252G>C (p.Ala418Pro)
NM_005633.4(SOS1):c.1255A>G (p.Ile419Val)
NM_005633.4(SOS1):c.1262A>T (p.Lys421Met)
NM_005633.4(SOS1):c.1276C>A (p.Gln426Lys) rs1558474706
NM_005633.4(SOS1):c.1285A>G (p.Ile429Val) rs2124537717
NM_005633.4(SOS1):c.1291G>A (p.Gly431Ser) rs1223347034
NM_005633.4(SOS1):c.1306G>C (p.Asp436His)
NM_005633.4(SOS1):c.1333A>G (p.Ile445Val) rs2124537533
NM_005633.4(SOS1):c.1337T>C (p.Met446Thr) rs1669849037
NM_005633.4(SOS1):c.1338G>C (p.Met446Ile)
NM_005633.4(SOS1):c.1352C>G (p.Thr451Arg) rs730880218
NM_005633.4(SOS1):c.1357G>A (p.Val453Ile) rs1669848256
NM_005633.4(SOS1):c.135dup (p.Gln46fs)
NM_005633.4(SOS1):c.1370A>G (p.His457Arg) rs1060503524
NM_005633.4(SOS1):c.1376G>C (p.Arg459Thr)
NM_005633.4(SOS1):c.1405A>T (p.Ile469Phe)
NM_005633.4(SOS1):c.1422T>A (p.Asn474Lys)
NM_005633.4(SOS1):c.1426G>T (p.Gly476Trp)
NM_005633.4(SOS1):c.1432C>T (p.Pro478Ser)
NM_005633.4(SOS1):c.1454A>G (p.Asn485Ser) rs140671910
NM_005633.4(SOS1):c.1466G>A (p.Arg489His) rs994463655
NM_005633.4(SOS1):c.1478A>G (p.Lys493Arg) rs2124537230
NM_005633.4(SOS1):c.1479G>T (p.Lys493Asn) rs2124537221
NM_005633.4(SOS1):c.1487T>A (p.Met496Lys)
NM_005633.4(SOS1):c.148G>A (p.Glu50Lys) rs2148140584
NM_005633.4(SOS1):c.1490G>C (p.Arg497Pro) rs371314838
NM_005633.4(SOS1):c.1493A>G (p.Lys498Arg)
NM_005633.4(SOS1):c.1495G>A (p.Val499Ile) rs1315811250
NM_005633.4(SOS1):c.1495G>T (p.Val499Leu) rs1315811250
NM_005633.4(SOS1):c.1511A>C (p.Lys504Thr) rs2124537140
NM_005633.4(SOS1):c.1534C>T (p.His512Tyr)
NM_005633.4(SOS1):c.1542T>A (p.Phe514Leu)
NM_005633.4(SOS1):c.1548A>G (p.Ile516Met)
NM_005633.4(SOS1):c.1558G>T (p.Asp520Tyr) rs754115060
NM_005633.4(SOS1):c.1569T>G (p.Ser523Arg)
NM_005633.4(SOS1):c.1589C>T (p.Ser530Leu)
NM_005633.4(SOS1):c.1597G>A (p.Glu533Lys)
NM_005633.4(SOS1):c.1611G>C (p.Trp537Cys)
NM_005633.4(SOS1):c.1619C>T (p.Ala540Val) rs2124536870
NM_005633.4(SOS1):c.1648_1650del (p.Leu550del) rs1669838767
NM_005633.4(SOS1):c.1658T>C (p.Met553Thr)
NM_005633.4(SOS1):c.1664A>C (p.Asp555Ala)
NM_005633.4(SOS1):c.1666G>A (p.Val556Ile) rs753909912
NM_005633.4(SOS1):c.1670C>T (p.Thr557Ile) rs1245953394
NM_005633.4(SOS1):c.1675C>A (p.Leu559Ile)
NM_005633.4(SOS1):c.1686G>T (p.Glu562Asp) rs199778219
NM_005633.4(SOS1):c.1690G>A (p.Glu564Lys) rs1386900583
NM_005633.4(SOS1):c.1691A>G (p.Glu564Gly)
NM_005633.4(SOS1):c.1709C>T (p.Pro570Leu)
NM_005633.4(SOS1):c.1711A>C (p.Ser571Arg)
NM_005633.4(SOS1):c.1727G>T (p.Arg576Ile) rs1553356023
NM_005633.4(SOS1):c.172A>G (p.Met58Val) rs2148140531
NM_005633.4(SOS1):c.1739C>G (p.Pro580Arg) rs1669835119
NM_005633.4(SOS1):c.1748A>T (p.Glu583Val)
NM_005633.4(SOS1):c.1750G>A (p.Glu584Lys)
NM_005633.4(SOS1):c.1758_1775dup (p.Asn591_Met592insIleIlePheGluGluAsn)
NM_005633.4(SOS1):c.1768G>C (p.Glu590Gln) rs730881047
NM_005633.4(SOS1):c.1790G>T (p.Gly597Val) rs2124536324
NM_005633.4(SOS1):c.1798A>C (p.Ile600Leu) rs373139450
NM_005633.4(SOS1):c.17T>C (p.Leu6Pro)
NM_005633.4(SOS1):c.1814C>A (p.Thr605Asn)
NM_005633.4(SOS1):c.182A>T (p.Gln61Leu) rs1671636707
NM_005633.4(SOS1):c.1846C>A (p.His616Asn)
NM_005633.4(SOS1):c.1850T>C (p.Met617Thr) rs775105134
NM_005633.4(SOS1):c.1865A>G (p.Asn622Ser)
NM_005633.4(SOS1):c.1870G>T (p.Val624Phe) rs1669579574
NM_005633.4(SOS1):c.1880T>G (p.Phe627Cys) rs1057518197
NM_005633.4(SOS1):c.191C>T (p.Pro64Leu)
NM_005633.4(SOS1):c.1934T>G (p.Ile645Arg)
NM_005633.4(SOS1):c.1935A>G (p.Ile645Met) rs2124520154
NM_005633.4(SOS1):c.1952C>T (p.Pro651Leu) rs773205186
NM_005633.4(SOS1):c.1960G>C (p.Glu654Gln) rs1669547011
NM_005633.4(SOS1):c.1961A>G (p.Glu654Gly) rs1669546886
NM_005633.4(SOS1):c.1963C>G (p.Pro655Ala) rs2124518554
NM_005633.4(SOS1):c.1979G>A (p.Arg660His)
NM_005633.4(SOS1):c.1981A>T (p.Ile661Leu) rs1181488319
NM_005633.4(SOS1):c.1988T>A (p.Ile663Lys)
NM_005633.4(SOS1):c.198T>G (p.Ser66Arg)
NM_005633.4(SOS1):c.1993A>T (p.Asn665Tyr)
NM_005633.4(SOS1):c.2051C>T (p.Pro684Leu) rs397517155
NM_005633.4(SOS1):c.2059C>G (p.Leu687Val) rs1669541910
NM_005633.4(SOS1):c.205G>C (p.Asp69His)
NM_005633.4(SOS1):c.2063G>A (p.Arg688Gln) rs2124518275
NM_005633.4(SOS1):c.2086T>C (p.Trp696Arg)
NM_005633.4(SOS1):c.2098C>G (p.His700Asp)
NM_005633.4(SOS1):c.2100C>G (p.His700Gln) rs1461692001
NM_005633.4(SOS1):c.2103C>G (p.Phe701Leu) rs2124517580
NM_005633.4(SOS1):c.2123C>T (p.Ala708Val)
NM_005633.4(SOS1):c.213+11_213+12delinsAT
NM_005633.4(SOS1):c.213+4T>A
NM_005633.4(SOS1):c.213+4T>C rs1325380102
NM_005633.4(SOS1):c.2147A>T (p.Glu716Val)
NM_005633.4(SOS1):c.2153T>C (p.Ile718Thr)
NM_005633.4(SOS1):c.2156G>A (p.Gly719Glu) rs200794965
NM_005633.4(SOS1):c.2167+1G>A rs1558469557
NM_005633.4(SOS1):c.2167+6T>A
NM_005633.4(SOS1):c.2171A>T (p.Lys724Ile)
NM_005633.4(SOS1):c.2206A>G (p.Ile736Val)
NM_005633.4(SOS1):c.2223A>C (p.Lys741Asn) rs2124515138
NM_005633.4(SOS1):c.2230A>G (p.Arg744Gly) rs1669494952
NM_005633.4(SOS1):c.2237A>G (p.Asn746Ser) rs975491573
NM_005633.4(SOS1):c.2249ATA[1] (p.Asn751del)
NM_005633.4(SOS1):c.224A>G (p.Gln75Arg)
NM_005633.4(SOS1):c.2258C>T (p.Thr753Ile)
NM_005633.4(SOS1):c.2267G>A (p.Ser756Asn)
NM_005633.4(SOS1):c.2282T>C (p.Val761Ala)
NM_005633.4(SOS1):c.228_229del (p.Ser77fs)
NM_005633.4(SOS1):c.2305G>C (p.Gly769Arg)
NM_005633.4(SOS1):c.2326C>G (p.Leu776Val)
NM_005633.4(SOS1):c.2339_2354del (p.His780fs) rs2124514866
NM_005633.4(SOS1):c.2350A>G (p.Ile784Val)
NM_005633.4(SOS1):c.2356C>T (p.Arg786Ter) rs2124514851
NM_005633.4(SOS1):c.2359C>T (p.Gln787Ter)
NM_005633.4(SOS1):c.23A>T (p.Tyr8Phe) rs781093356
NM_005633.4(SOS1):c.2404T>C (p.Ser802Pro)
NM_005633.4(SOS1):c.2436A>C (p.Glu812Asp)
NM_005633.4(SOS1):c.2446A>G (p.Ile816Val) rs2124511484
NM_005633.4(SOS1):c.245T>C (p.Ile82Thr)
NM_005633.4(SOS1):c.2468A>G (p.Lys823Arg) rs1558467976
NM_005633.4(SOS1):c.2489A>T (p.Asn830Ile) rs397517158
NM_005633.4(SOS1):c.2491C>G (p.Leu831Val) rs2124511437
NM_005633.4(SOS1):c.2512T>C (p.Cys838Arg)
NM_005633.4(SOS1):c.2516T>C (p.Ile839Thr)
NM_005633.4(SOS1):c.2522A>C (p.Glu841Ala)
NM_005633.4(SOS1):c.2533T>A (p.Leu845Ile)
NM_005633.4(SOS1):c.2546T>C (p.Val849Ala)
NM_005633.4(SOS1):c.2554G>A (p.Val852Met)
NM_005633.4(SOS1):c.2554G>T (p.Val852Leu)
NM_005633.4(SOS1):c.256G>A (p.Ala86Thr)
NM_005633.4(SOS1):c.2571G>T (p.Glu857Asp)
NM_005633.4(SOS1):c.2590G>A (p.Glu864Lys)
NM_005633.4(SOS1):c.2593T>G (p.Leu865Val) rs2124503349
NM_005633.4(SOS1):c.2595G>C (p.Leu865Phe) rs2124503338
NM_005633.4(SOS1):c.2632A>G (p.Met878Val) rs2124503272
NM_005633.4(SOS1):c.2633T>C (p.Met878Thr)
NM_005633.4(SOS1):c.2639dup (p.Ser881fs)
NM_005633.4(SOS1):c.2655A>T (p.Arg885Ser) rs2124503237
NM_005633.4(SOS1):c.2660A>C (p.Asp887Ala)
NM_005633.4(SOS1):c.2661C>A (p.Asp887Glu) rs2124503229
NM_005633.4(SOS1):c.2670T>A (p.Phe890Leu)
NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys) rs1553353452
NM_005633.4(SOS1):c.267T>A (p.Asp89Glu) rs2124610871
NM_005633.4(SOS1):c.2686C>T (p.Arg896Cys) rs2124501933
NM_005633.4(SOS1):c.2702T>C (p.Leu901Ser) rs2124501920
NM_005633.4(SOS1):c.2708A>C (p.Glu903Ala)
NM_005633.4(SOS1):c.2764A>G (p.Ile922Val) rs780420674
NM_005633.4(SOS1):c.2788T>A (p.Phe930Ile) rs1558465734
NM_005633.4(SOS1):c.2792-6T>G
NM_005633.4(SOS1):c.2803A>C (p.Thr935Pro)
NM_005633.4(SOS1):c.2804C>G (p.Thr935Ser)
NM_005633.4(SOS1):c.2836G>C (p.Glu946Gln) rs1558460847
NM_005633.4(SOS1):c.283G>A (p.Glu95Lys) rs1558493384
NM_005633.4(SOS1):c.283G>C (p.Glu95Gln)
NM_005633.4(SOS1):c.2874T>G (p.Phe958Leu) rs2124479605
NM_005633.4(SOS1):c.2877C>G (p.Ser959Arg)
NM_005633.4(SOS1):c.28T>G (p.Phe10Val) rs2148243308
NM_005633.4(SOS1):c.2980T>G (p.Leu994Val)
NM_005633.4(SOS1):c.3002T>C (p.Met1001Thr) rs2124478911
NM_005633.4(SOS1):c.3010G>A (p.Glu1004Lys)
NM_005633.4(SOS1):c.3011A>G (p.Glu1004Gly) rs2124478876
NM_005633.4(SOS1):c.3012A>C (p.Glu1004Asp)
NM_005633.4(SOS1):c.3017C>T (p.Thr1006Ile)
NM_005633.4(SOS1):c.3032A>C (p.Asn1011Thr) rs8192671
NM_005633.4(SOS1):c.3043G>A (p.Glu1015Lys)
NM_005633.4(SOS1):c.3043G>C (p.Glu1015Gln) rs772348571
NM_005633.4(SOS1):c.3062C>A (p.Pro1021His) rs771279973
NM_005633.4(SOS1):c.3068C>A (p.Pro1023His)
NM_005633.4(SOS1):c.3081+6C>T
NM_005633.4(SOS1):c.3095G>C (p.Ser1032Thr) rs2124475811
NM_005633.4(SOS1):c.3100C>A (p.Pro1034Thr)
NM_005633.4(SOS1):c.311C>A (p.Ser104Tyr)
NM_005633.4(SOS1):c.3134C>T (p.Pro1045Leu)
NM_005633.4(SOS1):c.313C>T (p.Leu105Phe)
NM_005633.4(SOS1):c.3145A>T (p.Thr1049Ser) rs1668858649
NM_005633.4(SOS1):c.3158C>T (p.Pro1053Leu)
NM_005633.4(SOS1):c.3160A>T (p.Thr1054Ser)
NM_005633.4(SOS1):c.3175G>A (p.Glu1059Lys)
NM_005633.4(SOS1):c.3175G>C (p.Glu1059Gln)
NM_005633.4(SOS1):c.3176A>G (p.Glu1059Gly)
NM_005633.4(SOS1):c.3182G>A (p.Arg1061Lys)
NM_005633.4(SOS1):c.3193T>A (p.Tyr1065Asn)
NM_005633.4(SOS1):c.31T>C (p.Phe11Leu) rs1673826301
NM_005633.4(SOS1):c.3220G>A (p.Glu1074Lys)
NM_005633.4(SOS1):c.3220G>C (p.Glu1074Gln)
NM_005633.4(SOS1):c.3221A>C (p.Glu1074Ala) rs773504580
NM_005633.4(SOS1):c.3223A>G (p.Ser1075Gly)
NM_005633.4(SOS1):c.3226A>G (p.Thr1076Ala)
NM_005633.4(SOS1):c.3235G>A (p.Ala1079Thr) rs1668854594
NM_005633.4(SOS1):c.3238C>G (p.Pro1080Ala)
NM_005633.4(SOS1):c.3248C>G (p.Pro1083Arg)
NM_005633.4(SOS1):c.3254dup (p.Pro1086fs)
NM_005633.4(SOS1):c.3257C>A (p.Pro1086Gln) rs730881028
NM_005633.4(SOS1):c.3258_3288dup (p.Ser1097fs)
NM_005633.4(SOS1):c.3260dup (p.Leu1087fs) rs1558459711
NM_005633.4(SOS1):c.3265C>T (p.Pro1089Ser)
NM_005633.4(SOS1):c.3268C>T (p.Pro1090Ser)
NM_005633.4(SOS1):c.3272C>G (p.Pro1091Arg)
NM_005633.4(SOS1):c.3287C>G (p.Ser1096Cys)
NM_005633.4(SOS1):c.328A>G (p.Ile110Val) rs1276127499
NM_005633.4(SOS1):c.3298G>C (p.Asp1100His)
NM_005633.4(SOS1):c.329T>A (p.Ile110Asn)
NM_005633.4(SOS1):c.3305G>A (p.Cys1102Tyr) rs2124475187
NM_005633.4(SOS1):c.3311T>A (p.Val1104Glu)
NM_005633.4(SOS1):c.3318T>G (p.Asp1106Glu)
NM_005633.4(SOS1):c.3322G>C (p.Asp1108His) rs199856844
NM_005633.4(SOS1):c.3325C>A (p.His1109Asn)
NM_005633.4(SOS1):c.332A>G (p.His111Arg) rs1572860651
NM_005633.4(SOS1):c.3334C>G (p.Pro1112Ala)
NM_005633.4(SOS1):c.3334C>T (p.Pro1112Ser)
NM_005633.4(SOS1):c.3335C>G (p.Pro1112Arg) rs1668848728
NM_005633.4(SOS1):c.3346+4G>C rs1204153026
NM_005633.4(SOS1):c.3349A>G (p.Asn1117Asp) rs2124462850
NM_005633.4(SOS1):c.3373A>C (p.Thr1125Pro)
NM_005633.4(SOS1):c.338T>C (p.Leu113Ser)
NM_005633.4(SOS1):c.3391+3T>A
NM_005633.4(SOS1):c.3391+3_3391+6del rs756201866
NM_005633.4(SOS1):c.3391+5G>C rs1668654438
NM_005633.4(SOS1):c.3391+6T>G
NM_005633.4(SOS1):c.3392-16A>G
NM_005633.4(SOS1):c.33C>G (p.Phe11Leu) rs1673826225
NM_005633.4(SOS1):c.3409T>C (p.Ser1137Pro)
NM_005633.4(SOS1):c.3412A>C (p.Ile1138Leu) rs56248239
NM_005633.4(SOS1):c.3436G>C (p.Glu1146Gln)
NM_005633.4(SOS1):c.3439G>A (p.Val1147Met)
NM_005633.4(SOS1):c.3440T>C (p.Val1147Ala) rs1558455818
NM_005633.4(SOS1):c.345+6G>A
NM_005633.4(SOS1):c.3451C>T (p.Pro1151Ser) rs2124458641
NM_005633.4(SOS1):c.3472C>T (p.Arg1158Ter)
NM_005633.4(SOS1):c.3473G>A (p.Arg1158Gln)
NM_005633.4(SOS1):c.347A>T (p.Glu116Val) rs2124607524
NM_005633.4(SOS1):c.3481T>C (p.Ser1161Pro)
NM_005633.4(SOS1):c.3485C>T (p.Ala1162Val) rs1022820895
NM_005633.4(SOS1):c.3494A>C (p.Glu1165Ala)
NM_005633.4(SOS1):c.34A>G (p.Ser12Gly)
NM_005633.4(SOS1):c.3511-14_3511-10del rs760713912
NM_005633.4(SOS1):c.3511A>G (p.Ile1171Val)
NM_005633.4(SOS1):c.3512T>G (p.Ile1171Ser)
NM_005633.4(SOS1):c.3520A>G (p.Lys1174Glu)
NM_005633.4(SOS1):c.3526T>A (p.Leu1176Met)
NM_005633.4(SOS1):c.3526T>G (p.Leu1176Val) rs771115389
NM_005633.4(SOS1):c.3534T>A (p.Ser1178Arg) rs1572796568
NM_005633.4(SOS1):c.3559C>T (p.Pro1187Ser)
NM_005633.4(SOS1):c.3563C>T (p.Thr1188Ile)
NM_005633.4(SOS1):c.3568A>G (p.Lys1190Glu) rs1553349579
NM_005633.4(SOS1):c.356G>A (p.Gly119Asp)
NM_005633.4(SOS1):c.3575A>G (p.Tyr1192Cys)
NM_005633.4(SOS1):c.3575A>T (p.Tyr1192Phe)
NM_005633.4(SOS1):c.3580C>T (p.Pro1194Ser)
NM_005633.4(SOS1):c.3584G>A (p.Arg1195Gln)
NM_005633.4(SOS1):c.3598_3599delinsAC (p.Asp1200Thr) rs1572796492
NM_005633.4(SOS1):c.3600C>A (p.Asp1200Glu) rs141594736
NM_005633.4(SOS1):c.3601C>T (p.Arg1201Trp) rs752395541
NM_005633.4(SOS1):c.3609_3614del (p.Ile1204_Ser1205del)
NM_005633.4(SOS1):c.3644C>T (p.Pro1215Leu) rs730881050
NM_005633.4(SOS1):c.3646C>A (p.Pro1216Thr) rs762129481
NM_005633.4(SOS1):c.3665C>T (p.Thr1222Ile)
NM_005633.4(SOS1):c.3667C>T (p.Pro1223Ser) rs1353982573
NM_005633.4(SOS1):c.3671A>T (p.Asp1224Val)
NM_005633.4(SOS1):c.3673G>A (p.Val1225Ile)
NM_005633.4(SOS1):c.3688C>T (p.Pro1230Ser)
NM_005633.4(SOS1):c.3697C>G (p.Leu1233Val)
NM_005633.4(SOS1):c.3709C>T (p.Pro1237Ser) rs371408734
NM_005633.4(SOS1):c.3718A>G (p.Lys1240Glu)
NM_005633.4(SOS1):c.371A>G (p.His124Arg) rs2124607473
NM_005633.4(SOS1):c.3724dup (p.Ser1242fs) rs1558454973
NM_005633.4(SOS1):c.3731A>G (p.His1244Arg)
NM_005633.4(SOS1):c.3748C>T (p.Pro1250Ser) rs1668548624
NM_005633.4(SOS1):c.3753C>G (p.Asn1251Lys) rs2124454963
NM_005633.4(SOS1):c.3764C>G (p.Pro1255Arg) rs1376446157
NM_005633.4(SOS1):c.3770C>T (p.Thr1257Ile) rs962478091
NM_005633.4(SOS1):c.3775C>G (p.Pro1259Ala)
NM_005633.4(SOS1):c.3778C>G (p.Pro1260Ala) rs779336305
NM_005633.4(SOS1):c.3781C>G (p.Pro1261Ala)
NM_005633.4(SOS1):c.3781C>T (p.Pro1261Ser)
NM_005633.4(SOS1):c.3793T>G (p.Ser1265Ala) rs886056023
NM_005633.4(SOS1):c.3799C>T (p.His1267Tyr)
NM_005633.4(SOS1):c.37G>C (p.Glu13Gln)
NM_005633.4(SOS1):c.3802G>C (p.Gly1268Arg)
NM_005633.4(SOS1):c.3808A>G (p.Arg1270Gly)
NM_005633.4(SOS1):c.3832T>A (p.Leu1278Met)
NM_005633.4(SOS1):c.3838C>G (p.Gln1280Glu) rs548519280
NM_005633.4(SOS1):c.3839AAG[3] (p.Glu1281dup) rs1175436231
NM_005633.4(SOS1):c.3841G>A (p.Glu1281Lys)
NM_005633.4(SOS1):c.3866G>A (p.Gly1289Glu)
NM_005633.4(SOS1):c.3869C>T (p.Pro1290Leu)
NM_005633.4(SOS1):c.388A>G (p.Ile130Val) rs2124607438
NM_005633.4(SOS1):c.38A>G (p.Glu13Gly) rs2148243276
NM_005633.4(SOS1):c.3901C>G (p.His1301Asp)
NM_005633.4(SOS1):c.3901C>T (p.His1301Tyr)
NM_005633.4(SOS1):c.3914T>G (p.Leu1305Arg)
NM_005633.4(SOS1):c.392T>G (p.Val131Gly)
NM_005633.4(SOS1):c.3935G>C (p.Arg1312Thr)
NM_005633.4(SOS1):c.3944C>G (p.Thr1315Arg) rs779904535
NM_005633.4(SOS1):c.3947A>C (p.His1316Pro)
NM_005633.4(SOS1):c.3950C>T (p.Pro1317Leu) rs2124454104
NM_005633.4(SOS1):c.3955A>G (p.Met1319Val)
NM_005633.4(SOS1):c.3958C>G (p.His1320Asp)
NM_005633.4(SOS1):c.3959A>C (p.His1320Pro)
NM_005633.4(SOS1):c.3960C>G (p.His1320Gln) rs1553349464
NM_005633.4(SOS1):c.3962G>C (p.Arg1321Thr) rs1054147959
NM_005633.4(SOS1):c.3964G>A (p.Asp1322Asn) rs1167931335
NM_005633.4(SOS1):c.3971C>G (p.Pro1324Arg) rs727503434
NM_005633.4(SOS1):c.3980T>C (p.Leu1327Ser)
NM_005633.4(SOS1):c.3987T>A (p.Asn1329Lys) rs936986823
NM_005633.4(SOS1):c.3998C>T (p.Ser1333Phe) rs2124453911
NM_005633.4(SOS1):c.40G>A (p.Glu14Lys)
NM_005633.4(SOS1):c.433G>A (p.Val145Ile)
NM_005633.4(SOS1):c.440A>T (p.Asn147Ile)
NM_005633.4(SOS1):c.457del (p.Arg153fs)
NM_005633.4(SOS1):c.458G>A (p.Arg153Gln)
NM_005633.4(SOS1):c.482A>G (p.Asp161Gly)
NM_005633.4(SOS1):c.493G>A (p.Ala165Thr)
NM_005633.4(SOS1):c.494C>G (p.Ala165Gly) rs1558492346
NM_005633.4(SOS1):c.4C>A (p.Gln2Lys) rs587781174
NM_005633.4(SOS1):c.500G>A (p.Cys167Tyr) rs768975865
NM_005633.4(SOS1):c.503C>T (p.Ala168Val)
NM_005633.4(SOS1):c.505G>C (p.Asp169His)
NM_005633.4(SOS1):c.511-4A>G rs2124603917
NM_005633.4(SOS1):c.512T>G (p.Val171Gly) rs397517174
NM_005633.4(SOS1):c.524T>C (p.Met175Thr) rs2124603907
NM_005633.4(SOS1):c.538G>A (p.Val180Ile)
NM_005633.4(SOS1):c.542A>G (p.Glu181Gly)
NM_005633.4(SOS1):c.544G>A (p.Asp182Asn) rs1553362279
NM_005633.4(SOS1):c.548T>C (p.Ile183Thr) rs772569423
NM_005633.4(SOS1):c.548_552delinsATATATTA (p.Ile183_Asn184delinsAsnIleLeu)
NM_005633.4(SOS1):c.54G>C (p.Lys18Asn)
NM_005633.4(SOS1):c.554T>C (p.Ile185Thr)
NM_005633.4(SOS1):c.558_562del (p.Leu186fs) rs1553362269
NM_005633.4(SOS1):c.576G>C (p.Glu192Asp)
NM_005633.4(SOS1):c.61G>A (p.Gly21Arg) rs771423136
NM_005633.4(SOS1):c.646A>T (p.Ile216Leu)
NM_005633.4(SOS1):c.647T>C (p.Ile216Thr)
NM_005633.4(SOS1):c.64C>G (p.Leu22Val)
NM_005633.4(SOS1):c.668T>C (p.Ile223Thr) rs397517176
NM_005633.4(SOS1):c.670A>G (p.Lys224Glu) rs889231089
NM_005633.4(SOS1):c.681A>C (p.Arg227Ser)
NM_005633.4(SOS1):c.688T>C (p.Phe230Leu) rs397517177
NM_005633.4(SOS1):c.691G>A (p.Val231Ile) rs1671141416
NM_005633.4(SOS1):c.701C>T (p.Ser234Leu) rs2124603499
NM_005633.4(SOS1):c.70G>C (p.Val24Leu)
NM_005633.4(SOS1):c.715G>C (p.Ala239Pro)
NM_005633.4(SOS1):c.720T>C (p.Asn240=) rs779699814
NM_005633.4(SOS1):c.734T>C (p.Ile245Thr) rs2124597097
NM_005633.4(SOS1):c.735A>G (p.Ile245Met) rs2124597094
NM_005633.4(SOS1):c.742C>T (p.Arg248Cys) rs1671008126
NM_005633.4(SOS1):c.746T>C (p.Ile249Thr) rs1324979194
NM_005633.4(SOS1):c.76G>T (p.Ala26Ser)
NM_005633.4(SOS1):c.774G>C (p.Lys258Asn) rs1671006816
NM_005633.4(SOS1):c.782G>A (p.Gly261Asp)
NM_005633.4(SOS1):c.788T>C (p.Ile263Thr) rs1310500908
NM_005633.4(SOS1):c.796A>G (p.Thr266Ala)
NM_005633.4(SOS1):c.800T>C (p.Val267Ala)
NM_005633.4(SOS1):c.800T>G (p.Val267Gly) rs748234666
NM_005633.4(SOS1):c.818G>A (p.Gly273Asp)
NM_005633.4(SOS1):c.845G>T (p.Cys282Phe)
NM_005633.4(SOS1):c.847T>A (p.Phe283Ile) rs1222945881
NM_005633.4(SOS1):c.864+5G>C rs1671003663
NM_005633.4(SOS1):c.868C>A (p.Leu290Met)
NM_005633.4(SOS1):c.86A>C (p.Lys29Thr)
NM_005633.4(SOS1):c.87+6G>C rs777383378
NM_005633.4(SOS1):c.87+6G>T rs777383378
NM_005633.4(SOS1):c.88-3T>C
NM_005633.4(SOS1):c.888A>C (p.Glu296Asp)
NM_005633.4(SOS1):c.8C>T (p.Ala3Val)
NM_005633.4(SOS1):c.906T>G (p.Ile302Met) rs2124562866
NM_005633.4(SOS1):c.911G>C (p.Arg304Pro)
NM_005633.4(SOS1):c.919T>A (p.Phe307Ile) rs1670310935
NM_005633.4(SOS1):c.922C>T (p.His308Tyr)
NM_005633.4(SOS1):c.967T>C (p.Tyr323His) rs1670309576
NM_005633.4(SOS1):c.976-3dup rs745490729
NM_005633.4(SOS1):c.982G>A (p.Gly328Ser)
NM_005633.4(SOS1):c.982G>C (p.Gly328Arg)
NM_007373.4(SHOC2):c.1004G>A (p.Ser335Asn) rs1590835179
NM_007373.4(SHOC2):c.102T>G (p.Phe34Leu)
NM_007373.4(SHOC2):c.1035G>T (p.Leu345Phe)
NM_007373.4(SHOC2):c.103G>A (p.Gly35Arg)
NM_007373.4(SHOC2):c.103G>T (p.Gly35Trp) rs751634012
NM_007373.4(SHOC2):c.1046G>A (p.Gly349Asp) rs1848437298
NM_007373.4(SHOC2):c.1049G>A (p.Gly350Asp)
NM_007373.4(SHOC2):c.1055C>T (p.Ser352Phe) rs1848437546
NM_007373.4(SHOC2):c.1072T>C (p.Tyr358His)
NM_007373.4(SHOC2):c.107A>G (p.Lys36Arg)
NM_007373.4(SHOC2):c.1097G>A (p.Arg366Gln) rs1219277268
NM_007373.4(SHOC2):c.1097G>T (p.Arg366Leu)
NM_007373.4(SHOC2):c.1103A>G (p.Asn368Ser)
NM_007373.4(SHOC2):c.110A>G (p.Glu37Gly)
NM_007373.4(SHOC2):c.1130G>A (p.Arg377Lys)
NM_007373.4(SHOC2):c.113G>A (p.Ser38Asn)
NM_007373.4(SHOC2):c.1161+4A>G
NM_007373.4(SHOC2):c.1161+6C>T
NM_007373.4(SHOC2):c.1164C>A (p.Asp388Glu)
NM_007373.4(SHOC2):c.1166A>G (p.Asn389Ser) rs2134177725
NM_007373.4(SHOC2):c.1208G>C (p.Ser403Thr) rs1487427017
NM_007373.4(SHOC2):c.1213G>C (p.Val405Leu)
NM_007373.4(SHOC2):c.1231A>G (p.Thr411Ala) rs730881021
NM_007373.4(SHOC2):c.126A>T (p.Glu42Asp)
NM_007373.4(SHOC2):c.1292T>C (p.Ile431Thr)
NM_007373.4(SHOC2):c.1297T>C (p.Ser433Pro)
NM_007373.4(SHOC2):c.1300A>G (p.Asn434Asp)
NM_007373.4(SHOC2):c.130A>G (p.Lys44Glu)
NM_007373.4(SHOC2):c.1324C>G (p.His442Asp)
NM_007373.4(SHOC2):c.1325A>T (p.His442Leu)
NM_007373.4(SHOC2):c.1334G>A (p.Gly445Glu)
NM_007373.4(SHOC2):c.134C>G (p.Thr45Ser)
NM_007373.4(SHOC2):c.1356G>C (p.Glu452Asp) rs1047190791
NM_007373.4(SHOC2):c.1434G>C (p.Leu478Phe)
NM_007373.4(SHOC2):c.1435A>T (p.Thr479Ser)
NM_007373.4(SHOC2):c.145G>A (p.Asp49Asn)