ClinVar Miner

List of variants studied for Noonan syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 474
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.-273G>A rs58805176 0.10884
NM_004333.6(BRAF):c.1315-18T>G rs6959000 0.00771
NM_006939.4(SOS2):c.3489+19C>T rs149825446 0.00700
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00637
NM_005633.4(SOS1):c.345+15C>T rs75937422 0.00374
NM_005633.4(SOS1):c.2997T>C (p.Asn999=) rs145364368 0.00366
NM_004333.6(BRAF):c.1141-19C>T rs71645959 0.00360
NM_005633.4(SOS1):c.*1303C>A rs115153488 0.00300
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00282
NM_005633.4(SOS1):c.2673+14T>C rs183998234 0.00249
NM_005633.4(SOS1):c.*4023T>C rs1043800 0.00233
NM_005633.4(SOS1):c.570C>T (p.Asp190=) rs55980502 0.00233
NM_005633.4(SOS1):c.3081+13A>G rs189695571 0.00209
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671 0.00164
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe) rs145433186 0.00160
NM_033360.4(KRAS):c.5-18A>G rs200189105 0.00100
NM_002834.5(PTPN11):c.526-17T>C rs375184329 0.00096
NM_005633.4(SOS1):c.*534C>T rs773935049 0.00089
NM_005633.4(SOS1):c.2238T>C (p.Asn746=) rs75877625 0.00084
NM_002880.4(RAF1):c.581+4A>G rs201776526 0.00082
NM_005633.4(SOS1):c.73C>T (p.Pro25Ser) rs139592595 0.00080
NM_004333.6(BRAF):c.981-20C>T rs374896031 0.00066
NM_005633.4(SOS1):c.*559C>T rs572880679 0.00059
NM_005633.4(SOS1):c.*3989G>C rs751112874 0.00052
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_002834.5(PTPN11):c.1379+20C>T rs184743462 0.00047
NM_005199.5(CHRNG):c.459dup (p.Val154fs) rs774279192 0.00045
NM_004333.6(BRAF):c.2127+3A>G rs371976102 0.00043
NM_006939.4(SOS2):c.1521G>T (p.Glu507Asp) rs141604342 0.00041
NM_005633.4(SOS1):c.*4014T>C rs186738827 0.00040
NM_002880.4(RAF1):c.-209G>A rs727504351 0.00032
NM_002834.5(PTPN11):c.643-6dup rs758889732 0.00030
NM_005199.5(CHRNG):c.753_754del (p.Val253fs) rs767503038 0.00026
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_006767.4(LZTR1):c.1333G>A (p.Val445Met) rs201070853 0.00025
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=) rs148656020 0.00024
NM_005633.4(SOS1):c.*3252A>C rs769883659 0.00020
NM_005633.4(SOS1):c.*185A>G rs556367844 0.00018
NM_006767.4(LZTR1):c.1412G>A (p.Arg471His) rs139031749 0.00018
NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser) rs142863840 0.00018
NM_004333.6(BRAF):c.240+18A>G rs368584855 0.00017
NM_005633.4(SOS1):c.3286T>A (p.Ser1096Thr) rs376722127 0.00017
NM_005633.4(SOS1):c.3347-1G>A rs141565234 0.00017
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734 0.00016
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00016
NM_002880.4(RAF1):c.-181T>C rs886057920 0.00015
NM_004333.6(BRAF):c.1860+16A>G rs368859030 0.00015
NM_002834.5(PTPN11):c.1746C>T (p.Asn582=) rs397516800 0.00013
NM_033360.4(KRAS):c.90C>T (p.Asp30=) rs113623140 0.00013
NM_002834.5(PTPN11):c.1224+15G>A rs373271861 0.00012
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_005199.5(CHRNG):c.1421G>A (p.Arg474His) rs16829216 0.00011
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs) rs747067203 0.00011
NM_005633.4(SOS1):c.3357C>T (p.Thr1119=) rs373319212 0.00011
NM_006939.4(SOS2):c.1263T>C (p.Asn421=) rs369267864 0.00011
NM_006767.4(LZTR1):c.2306C>T (p.Thr769Met) rs531211534 0.00010
NM_002880.4(RAF1):c.834+598G>A rs375404697 0.00009
NM_004333.6(BRAF):c.1993-11T>C rs750297886 0.00009
NM_004333.6(BRAF):c.399A>G (p.Ser133=) rs397507463 0.00009
NM_005633.4(SOS1):c.*1641A>G rs760193823 0.00009
NM_005633.4(SOS1):c.7G>T (p.Ala3Ser) rs533757634 0.00009
NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp) rs776893978 0.00009
NM_006767.4(LZTR1):c.410C>A (p.Thr137Asn) rs146627447 0.00009
NM_002880.4(RAF1):c.-264C>G rs894363344 0.00008
NM_005199.5(CHRNG):c.1012T>C (p.Ser338Pro) rs776733115 0.00008
NM_005633.4(SOS1):c.*1477G>A rs1029291502 0.00008
NM_005633.4(SOS1):c.*421A>G rs973373222 0.00008
NM_006939.4(SOS2):c.2120A>G (p.Glu707Gly) rs369462490 0.00008
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
NM_004333.6(BRAF):c.1694+13C>T rs368578780 0.00007
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_006767.4(LZTR1):c.1498G>C (p.Ala500Pro) rs377075596 0.00007
NM_006767.4(LZTR1):c.1555C>T (p.Arg519Trp) rs565364639 0.00007
NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg) rs142666803 0.00007
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214 0.00006
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805 0.00006
NM_002834.5(PTPN11):c.616T>C (p.Leu206=) rs78376169 0.00006
NM_002880.4(RAF1):c.1814C>T (p.Ser605Phe) rs730881004 0.00006
NM_004333.6(BRAF):c.504+19C>T rs780617193 0.00006
NM_004333.6(BRAF):c.52C>G (p.Leu18Val) rs1222192591 0.00006
NM_005199.5(CHRNG):c.1145C>T (p.Ser382Leu) rs774121021 0.00006
NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala) rs553805862 0.00006
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp) rs550922200 0.00006
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys) rs587777178 0.00006
NM_033360.4(KRAS):c.4+5G>A rs201789109 0.00006
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val) rs201481342 0.00005
NM_005633.4(SOS1):c.3857C>T (p.Ser1286Phe) rs374341202 0.00005
NM_006767.4(LZTR1):c.1055A>C (p.Tyr352Ser) rs368649599 0.00005
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln) rs587777180 0.00005
NM_006767.4(LZTR1):c.400+6C>T rs971773000 0.00005
NM_002834.5(PTPN11):c.14+11C>A rs1486505121 0.00004
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser) rs572274623 0.00004
NM_002880.4(RAF1):c.*643C>G rs932173134 0.00004
NM_002880.4(RAF1):c.435G>A (p.Thr145=) rs371565419 0.00004
NM_004333.6(BRAF):c.1433-5T>C rs587780861 0.00004
NM_004333.6(BRAF):c.2140A>G (p.Ile714Val) rs555976452 0.00004
NM_004333.6(BRAF):c.915G>A (p.Ala305=) rs145675911 0.00004
NM_004333.6(BRAF):c.995C>T (p.Thr332Ile) rs1008080053 0.00004
NM_004985.5(KRAS):c.451-5652C>T rs727505314 0.00004
NM_005199.5(CHRNG):c.397del (p.Ser133fs) rs780249576 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_005633.4(SOS1):c.1905C>T (p.Cys635=) rs762900789 0.00004
NM_005633.4(SOS1):c.3392G>A (p.Arg1131Lys) rs768113420 0.00004
NM_006767.4(LZTR1):c.1403G>A (p.Arg468His) rs146427018 0.00004
NM_006767.4(LZTR1):c.1942+3A>G rs763690028 0.00004
NM_006767.4(LZTR1):c.1943-1G>A rs1189015572 0.00004
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr) rs141672122 0.00004
NM_006939.4(SOS2):c.257C>T (p.Ala86Val) rs146272145 0.00004
NM_006939.4(SOS2):c.532C>G (p.Gln178Glu) rs770603835 0.00004
NM_002834.5(PTPN11):c.1190C>T (p.Thr397Met) rs767503386 0.00003
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) rs201247699 0.00003
NM_002834.5(PTPN11):c.1327C>T (p.His443Tyr) rs779236638 0.00003
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser) rs751437780 0.00003
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe) rs397507525 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_004333.6(BRAF):c.1166G>A (p.Arg389His) rs577372072 0.00003
NM_004333.6(BRAF):c.1180T>C (p.Ser394Pro) rs923739321 0.00003
NM_004333.6(BRAF):c.1314+17T>C rs1057524397 0.00003
NM_004333.6(BRAF):c.2128-10_2128-9insC rs758588300 0.00003
NM_004333.6(BRAF):c.2136C>T (p.Ala712=) rs377165711 0.00003
NM_004333.6(BRAF):c.2231G>C (p.Ser744Thr) rs767671899 0.00003
NM_005199.5(CHRNG):c.402del (p.Asp135fs) rs768867302 0.00003
NM_005199.5(CHRNG):c.56-1G>A rs1265493319 0.00003
NM_005199.5(CHRNG):c.805+1G>A rs367938116 0.00003
NM_005633.4(SOS1):c.1672A>G (p.Met558Val) rs371295853 0.00003
NM_005633.4(SOS1):c.1720G>A (p.Val574Ile) rs727504641 0.00003
NM_005633.4(SOS1):c.382G>A (p.Val128Ile) rs752402979 0.00003
NM_006767.4(LZTR1):c.1195G>A (p.Ala399Thr) rs778238285 0.00003
NM_006767.4(LZTR1):c.1556G>A (p.Arg519Gln) rs149502567 0.00003
NM_006767.4(LZTR1):c.2401A>C (p.Thr801Pro) rs1215965010 0.00003
NM_002755.4(MAP2K1):c.961C>T (p.Pro321Ser) rs771613524 0.00002
NM_002834.5(PTPN11):c.1551G>A (p.Ala517=) rs727504377 0.00002
NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys) rs587778634 0.00002
NM_002834.5(PTPN11):c.327T>G (p.Ser109=) rs1039250039 0.00002
NM_002834.5(PTPN11):c.455G>A (p.Arg152His) rs397507521 0.00002
NM_002834.5(PTPN11):c.519C>G (p.Arg173=) rs767425313 0.00002
NM_002880.4(RAF1):c.1113T>C (p.Asp371=) rs146668293 0.00002
NM_004333.6(BRAF):c.1314+14A>G rs749502450 0.00002
NM_004333.6(BRAF):c.1433-18G>A rs763267814 0.00002
NM_005633.4(SOS1):c.1010A>G (p.Tyr337Cys) rs724160007 0.00002
NM_005633.4(SOS1):c.169A>T (p.Asn57Tyr) rs765764610 0.00002
NM_005633.4(SOS1):c.2369T>C (p.Leu790Ser) rs139859866 0.00002
NM_005633.4(SOS1):c.3148A>G (p.Met1050Val) rs886041814 0.00002
NM_005633.4(SOS1):c.3592A>G (p.Ile1198Val) rs747534810 0.00002
NM_005633.4(SOS1):c.3662G>C (p.Arg1221Thr) rs768987761 0.00002
NM_005633.4(SOS1):c.643T>C (p.Tyr215His) rs730881039 0.00002
NM_005633.4(SOS1):c.984C>T (p.Gly328=) rs778223456 0.00002
NM_006767.4(LZTR1):c.144C>G (p.Phe48Leu) rs774765005 0.00002
NM_006767.4(LZTR1):c.1576C>T (p.Gln526Ter) rs768530578 0.00002
NM_006767.4(LZTR1):c.2173C>T (p.Arg725Cys) rs778626874 0.00002
NM_006767.4(LZTR1):c.2220-16C>T rs1373241786 0.00002
NM_006939.4(SOS2):c.2384+5A>G rs376903120 0.00002
NM_002755.4(MAP2K1):c.693+20T>C rs753107656 0.00001
NM_002834.5(PTPN11):c.1011G>A (p.Thr337=) rs371951288 0.00001
NM_002834.5(PTPN11):c.1041A>G (p.Gln347=) rs766297596 0.00001
NM_002834.5(PTPN11):c.1047C>T (p.Asn349=) rs1222504763 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.1131A>C (p.Leu377=) rs370059077 0.00001
NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile) rs1214510641 0.00001
NM_002834.5(PTPN11):c.1233G>A (p.Thr411=) rs1325353647 0.00001
NM_002834.5(PTPN11):c.1366G>A (p.Val456Met) rs397516796 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala) rs397507539 0.00001
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541 0.00001
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546 0.00001
NM_002834.5(PTPN11):c.1648G>A (p.Ala550Thr) rs1048909771 0.00001
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=) rs374896287 0.00001
NM_002834.5(PTPN11):c.1715T>C (p.Met572Thr) rs1415602777 0.00001
NM_002834.5(PTPN11):c.175A>G (p.Thr59Ala) rs886043790 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 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.521G>A (p.Cys174Tyr) rs1324123217 0.00001
NM_002834.5(PTPN11):c.563A>G (p.Asp188Gly) rs1436513335 0.00001
NM_002834.5(PTPN11):c.642G>A (p.Gln214=) rs876661383 0.00001
NM_002834.5(PTPN11):c.643-9C>T rs750520685 0.00001
NM_002834.5(PTPN11):c.661A>G (p.Ile221Val) rs397516806 0.00001
NM_002834.5(PTPN11):c.853+19C>T rs1032100840 0.00001
NM_002834.5(PTPN11):c.874C>T (p.Leu292=) rs930267460 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002834.5(PTPN11):c.931A>G (p.Met311Val) rs774939392 0.00001
NM_002834.5(PTPN11):c.957C>T (p.Asn319=) rs771407775 0.00001
NM_002834.5(PTPN11):c.983T>C (p.Ile328Thr) rs369430257 0.00001
NM_002880.4(RAF1):c.482A>G (p.Asn161Ser) rs775781057 0.00001
NM_002880.4(RAF1):c.601A>G (p.Ile201Val) rs757700986 0.00001
NM_004333.6(BRAF):c.1061G>A (p.Arg354Gln) rs1158980679 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.1178-3T>C rs1407644052 0.00001
NM_004333.6(BRAF):c.1338G>A (p.Ser446=) rs765215499 0.00001
NM_004333.6(BRAF):c.1365G>T (p.Gly455=) rs750556299 0.00001
NM_004333.6(BRAF):c.1690A>G (p.Met564Val) rs745783052 0.00001
NM_004333.6(BRAF):c.1797A>G (p.Thr599=) rs1431556127 0.00001
NM_004333.6(BRAF):c.1848C>A (p.Ser616=) rs752115982 0.00001
NM_004333.6(BRAF):c.1992+15C>T rs766089848 0.00001
NM_004333.6(BRAF):c.2039A>G (p.Lys680Arg) rs1796764800 0.00001
NM_004333.6(BRAF):c.2127+4A>G rs772330392 0.00001
NM_004333.6(BRAF):c.26G>C (p.Gly9Ala) rs1211436028 0.00001
NM_004333.6(BRAF):c.298T>C (p.Leu100=) rs761709697 0.00001
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012 0.00001
NM_004333.6(BRAF):c.712-18T>C rs535496777 0.00001
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 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_005199.5(CHRNG):c.1408C>T (p.Arg470Ter) rs121912671 0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451 0.00001
NM_005199.5(CHRNG):c.274C>T (p.Arg92Ter) rs1559302834 0.00001
NM_005199.5(CHRNG):c.807dup (p.Gly270fs) rs778176530 0.00001
NM_005633.4(SOS1):c.1075-16C>T rs112540686 0.00001
NM_005633.4(SOS1):c.1098T>A (p.Asp366Glu) rs730881040 0.00001
NM_005633.4(SOS1):c.1266G>A (p.Met422Ile) rs1212129369 0.00001
NM_005633.4(SOS1):c.1303A>G (p.Lys435Glu) rs138920742 0.00001
NM_005633.4(SOS1):c.1564A>C (p.Asn522His) rs761094509 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.1848T>C (p.His616=) rs1344852617 0.00001
NM_005633.4(SOS1):c.1983A>G (p.Ile661Met) rs747203627 0.00001
NM_005633.4(SOS1):c.2105A>G (p.Tyr702Cys) rs757094189 0.00001
NM_005633.4(SOS1):c.213+9A>G rs553097014 0.00001
NM_005633.4(SOS1):c.2158A>G (p.Thr720Ala) rs367634525 0.00001
NM_005633.4(SOS1):c.2351T>C (p.Ile784Thr) rs1335137808 0.00001
NM_005633.4(SOS1):c.2604T>C (p.Phe868=) rs756520305 0.00001
NM_005633.4(SOS1):c.3197G>C (p.Ser1066Thr) rs1428068201 0.00001
NM_005633.4(SOS1):c.3524A>C (p.His1175Pro) rs730881035 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.3763C>A (p.Pro1255Thr) rs972166211 0.00001
NM_005633.4(SOS1):c.3902A>G (p.His1301Arg) rs771396497 0.00001
NM_005633.4(SOS1):c.3905T>C (p.Ile1302Thr) rs750296853 0.00001
NM_005633.4(SOS1):c.638G>A (p.Arg213Gln) rs374761537 0.00001
NM_005633.4(SOS1):c.754A>C (p.Ile252Leu) rs1158811958 0.00001
NM_006767.4(LZTR1):c.-38T>A rs1459786357 0.00001
NM_006767.4(LZTR1):c.1291G>A (p.Glu431Lys) rs756500067 0.00001
NM_006767.4(LZTR1):c.1378G>A (p.Val460Ile) rs763222950 0.00001
NM_006767.4(LZTR1):c.1717T>C (p.Ser573Pro) rs1269824662 0.00001
NM_006767.4(LZTR1):c.1907C>T (p.Pro636Leu) rs553579098 0.00001
NM_006767.4(LZTR1):c.1912C>T (p.Arg638Cys) rs1213535694 0.00001
NM_006767.4(LZTR1):c.2453T>C (p.Leu818Pro) rs1064796286 0.00001
NM_006767.4(LZTR1):c.263+1G>A rs761241914 0.00001
NM_006767.4(LZTR1):c.400+3A>G rs371956748 0.00001
NM_006767.4(LZTR1):c.401-5C>G rs1199776016 0.00001
NM_006767.4(LZTR1):c.467A>G (p.Lys156Arg) rs765597291 0.00001
NM_006767.4(LZTR1):c.484T>C (p.Trp162Arg) rs1278639893 0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165 0.00001
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) rs869025189 0.00001
NM_006912.6(RIT1):c.140C>T (p.Pro47Leu) rs747376042 0.00001
NM_006912.6(RIT1):c.334C>T (p.Arg112Cys) rs375724784 0.00001
NM_006912.6(RIT1):c.575C>T (p.Ala192Val) rs376391961 0.00001
NM_006939.4(SOS2):c.1747A>G (p.Asn583Asp) rs1388854755 0.00001
NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys) rs772746106 0.00001
NM_006939.4(SOS2):c.3987A>C (p.Glu1329Asp) rs146527239 0.00001
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473 0.00001
NM_002524.5(NRAS):c.25G>A (p.Val9Ile) rs1553244682
NM_002745.5(MAPK1):c.244A>G (p.Asn82Asp)
NM_002755.4(MAP2K1):c.291+14_291+20delinsTCTCACCAATCACCA rs1064795401
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu) rs727504819
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.5(PTPN11):c.1070C>T (p.Thr357Met)
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
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.1282G>T (p.Val428Leu) rs397507536
NM_002834.5(PTPN11):c.1303G>A (p.Val435Met) rs1054802954
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.1498C>G (p.Gln500Glu) rs2038714548
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_002834.5(PTPN11):c.1599+4C>A rs142606486
NM_002834.5(PTPN11):c.1685C>T (p.Pro562Leu) rs2038884191
NM_002834.5(PTPN11):c.1739A>G (p.Tyr580Cys) rs2038914051
NM_002834.5(PTPN11):c.1742A>C (p.Glu581Ala) rs2135930864
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.222G>A (p.Leu74=) rs1429492147
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) rs397507514
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.256G>A (p.Gly86Arg) rs925129380
NM_002834.5(PTPN11):c.289G>A (p.Glu97Lys) rs397507516
NM_002834.5(PTPN11):c.2T>G (p.Met1Arg)
NM_002834.5(PTPN11):c.302C>T (p.Pro101Leu) rs2135862932
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly) rs397507519
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.467A>G (p.Asp156Gly)
NM_002834.5(PTPN11):c.503C>T (p.Thr168Ile)
NM_002834.5(PTPN11):c.513G>C (p.Met171Ile)
NM_002834.5(PTPN11):c.529C>G (p.Leu177Val)
NM_002834.5(PTPN11):c.557G>A (p.Arg186Gln) rs764663951
NM_002834.5(PTPN11):c.570G>T (p.Leu190Phe)
NM_002834.5(PTPN11):c.585A>C (p.Glu195Asp)
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.643-20C>A
NM_002834.5(PTPN11):c.64A>G (p.Thr22Ala) rs757537175
NM_002834.5(PTPN11):c.683G>T (p.Ser228Ile) rs748085966
NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter) rs2038154558
NM_002834.5(PTPN11):c.709G>A (p.Ala237Thr)
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.788A>G (p.Tyr263Cys) rs763617831
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.5(PTPN11):c.865A>G (p.Arg289Gly) rs2135901005
NM_002834.5(PTPN11):c.881A>G (p.Asp294Gly)
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr) rs121918455
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.3(RAF1):c.-340_-339GA[1] rs527774250
NM_002880.4(RAF1):c.-204G>C rs547543588
NM_002880.4(RAF1):c.-59C>G rs201603517
NM_002880.4(RAF1):c.1463G>A (p.Gly488Asp) rs865862568
NM_002880.4(RAF1):c.1483C>T (p.Arg495Cys) rs941573221
NM_002880.4(RAF1):c.1770G>C (p.Lys590Asn) rs773583951
NM_002880.4(RAF1):c.1867C>T (p.Pro623Ser) rs373596121
NM_002880.4(RAF1):c.438C>A (p.Phe146Leu) rs794727717
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_002880.4(RAF1):c.788T>A (p.Val263Asp) rs397516830
NM_004333.6(BRAF):c.1133A>G (p.Asn378Ser) rs1278451495
NM_004333.6(BRAF):c.1204C>T (p.Pro402Ser)
NM_004333.6(BRAF):c.1205C>A (p.Pro402His) rs199927105
NM_004333.6(BRAF):c.1206C>A (p.Pro402=) rs201758035
NM_004333.6(BRAF):c.1207C>G (p.Pro403Ala) rs749792302
NM_004333.6(BRAF):c.1237G>A (p.Val413Met) rs377093637
NM_004333.6(BRAF):c.124G>T (p.Ala42Ser) rs2129153151
NM_004333.6(BRAF):c.1331G>A (p.Arg444Gln) rs1800890866
NM_004333.6(BRAF):c.1346A>G (p.Asp449Gly)
NM_004333.6(BRAF):c.1368G>A (p.Gln456=) rs767473452
NM_004333.6(BRAF):c.1432+17_1432+19del rs777363183
NM_004333.6(BRAF):c.1433-11T>A rs1800507644
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) rs397507475
NM_004333.6(BRAF):c.1558T>G (p.Ser520Ala)
NM_004333.6(BRAF):c.1627A>G (p.Ile543Val)
NM_004333.6(BRAF):c.1719C>A (p.Ile573=) rs2128999629
NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys) rs397516895
NM_004333.6(BRAF):c.1789C>T (p.Leu597=) rs121913369
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys) rs1562939198
NM_004333.6(BRAF):c.1992+16G>C rs3789806
NM_004333.6(BRAF):c.2035A>T (p.Ser679Cys)
NM_004333.6(BRAF):c.2046G>A (p.Arg682=)
NM_004333.6(BRAF):c.206G>C (p.Gly69Ala) rs1554412417
NM_004333.6(BRAF):c.208G>A (p.Gly70Arg)
NM_004333.6(BRAF):c.2128-27_2128-19del rs761539834
NM_004333.6(BRAF):c.2182G>A (p.Ala728Thr)
NM_004333.6(BRAF):c.22G>T (p.Gly8Cys) rs1205861530
NM_004333.6(BRAF):c.260G>A (p.Ser87Asn) rs1033856250
NM_004333.6(BRAF):c.282A>G (p.Gln94=)
NM_004333.6(BRAF):c.366TTC[1] (p.Ser127del) rs2129062126
NM_004333.6(BRAF):c.416A>C (p.Gln139Pro)
NM_004333.6(BRAF):c.45C>T (p.Gly15=)
NM_004333.6(BRAF):c.505-20A>G rs1037323084
NM_004333.6(BRAF):c.517T>C (p.Cys173Arg) rs749677118
NM_004333.6(BRAF):c.608+6G>T
NM_004333.6(BRAF):c.679T>A (p.Leu227Met) rs2129047891
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.957C>A (p.Ser319=)
NM_004333.6(BRAF):c.958G>A (p.Ala320Thr) rs1461617552
NM_004333.6(BRAF):c.980G>A (p.Gly327Glu)
NM_004985.5(KRAS):c.112-9C>T rs727504298
NM_004985.5(KRAS):c.168C>T (p.Leu56=) rs958790148
NM_004985.5(KRAS):c.184GAG[1] (p.Glu63del) rs730880469
NM_004985.5(KRAS):c.331A>G (p.Met111Val) rs1951384733
NM_004985.5(KRAS):c.352T>C (p.Cys118Arg) rs1951384485
NM_004985.5(KRAS):c.365C>G (p.Ser122Cys) rs2141506126
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile) rs1951383854
NM_004985.5(KRAS):c.450+5G>A rs2548918908
NM_004985.5(KRAS):c.451-6T>C
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_005199.5(CHRNG):c.1035+2C>A
NM_005199.5(CHRNG):c.1035+2C>G
NM_005199.5(CHRNG):c.1081_1102del (p.Pro361fs) rs1559304988
NM_005199.5(CHRNG):c.117dup (p.Asn40fs) rs797044677
NM_005199.5(CHRNG):c.11dup (p.Gln5fs)
NM_005199.5(CHRNG):c.1256_1263del (p.Gly419fs)
NM_005199.5(CHRNG):c.1354del (p.Arg452fs)
NM_005199.5(CHRNG):c.1380+1G>A
NM_005199.5(CHRNG):c.145del (p.Asp49fs)
NM_005199.5(CHRNG):c.166A>T (p.Lys56Ter)
NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter) rs764266722
NM_005199.5(CHRNG):c.240+1del rs777809198
NM_005199.5(CHRNG):c.246G>A (p.Trp82Ter)
NM_005199.5(CHRNG):c.249C>A (p.Cys83Ter)
NM_005199.5(CHRNG):c.2T>C (p.Met1Thr)
NM_005199.5(CHRNG):c.350+2T>C
NM_005199.5(CHRNG):c.482G>A (p.Trp161Ter)
NM_005199.5(CHRNG):c.493_494delinsCAGTGAGGCCATTTATTGGGGAGG (p.Ser165delinsGlnTer)
NM_005199.5(CHRNG):c.532_533del (p.Glu177_Ile178insTer) rs2469750351
NM_005199.5(CHRNG):c.710_711delinsAA (p.Ile237Lys) rs1574645121
NM_005199.5(CHRNG):c.754del (p.Cys252fs)
NM_005199.5(CHRNG):c.920+2_920+5del
NM_005633.4(SOS1):c.*1535G>A rs1668487434
NM_005633.4(SOS1):c.*1694del rs767903412
NM_005633.4(SOS1):c.*3149C>T rs541644361
NM_005633.4(SOS1):c.*4077G>T rs763838346
NM_005633.4(SOS1):c.1286T>C (p.Ile429Thr) rs755862687
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.4(SOS1):c.1310T>G (p.Ile437Ser) rs397517150
NM_005633.4(SOS1):c.1391T>C (p.Phe464Ser) rs2529037390
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.1670C>T (p.Thr557Ile) rs1245953394
NM_005633.4(SOS1):c.1770G>C (p.Glu590Asp) rs553331572
NM_005633.4(SOS1):c.2104T>C (p.Tyr702His) rs727505381
NM_005633.4(SOS1):c.23A>T (p.Tyr8Phe) rs781093356
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys) rs397517159
NM_005633.4(SOS1):c.253T>C (p.Trp85Arg) rs730881054
NM_005633.4(SOS1):c.25G>A (p.Glu9Lys) rs1347187972
NM_005633.4(SOS1):c.2674-9dup rs532594344
NM_005633.4(SOS1):c.3242A>G (p.Asn1081Ser) rs992722303
NM_005633.4(SOS1):c.3248dup (p.Arg1084fs) rs387906518
NM_005633.4(SOS1):c.3598_3599delinsAC (p.Asp1200Thr) rs1572796492
NM_005633.4(SOS1):c.3956T>G (p.Met1319Arg) rs730881036
NM_005633.4(SOS1):c.487A>G (p.Lys163Glu) rs886042206
NM_005633.4(SOS1):c.742C>T (p.Arg248Cys) rs1671008126
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_005633.4(SOS1):c.87+6G>T rs777383378
NM_005633.4(SOS1):c.976-3dup rs745490729
NM_006767.4(LZTR1):c.-112A>G
NM_006767.4(LZTR1):c.104C>A (p.Ser35Ter)
NM_006767.4(LZTR1):c.1149+1G>A rs767191322
NM_006767.4(LZTR1):c.1183G>C (p.Val395Leu)
NM_006767.4(LZTR1):c.1190C>T (p.Ser397Leu) rs1241079044
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006767.4(LZTR1):c.1235G>A (p.Arg412His) rs935736801
NM_006767.4(LZTR1):c.1261-6T>G rs760640586
NM_006767.4(LZTR1):c.1341C>G (p.Phe447Leu) rs201016956
NM_006767.4(LZTR1):c.1357GAG[1] (p.Glu454del) rs1569156873
NM_006767.4(LZTR1):c.1373dup (p.His459fs) rs1924703709
NM_006767.4(LZTR1):c.1444G>A (p.Ala482Thr) rs2518620590
NM_006767.4(LZTR1):c.1513C>G (p.Arg505Gly) rs770974858
NM_006767.4(LZTR1):c.1620T>C (p.His540=) rs141610191
NM_006767.4(LZTR1):c.1846G>A (p.Glu616Lys) rs1924773761
NM_006767.4(LZTR1):c.1888C>T (p.Arg630Trp) rs750813513
NM_006767.4(LZTR1):c.1946C>T (p.Thr649Ile) rs774401447
NM_006767.4(LZTR1):c.2057C>T (p.Ala686Val)
NM_006767.4(LZTR1):c.2201T>G (p.Met734Arg) rs2518624734
NM_006767.4(LZTR1):c.2244C>G (p.Tyr748Ter) rs1682503990
NM_006767.4(LZTR1):c.22G>C (p.Gly8Arg) rs575193991
NM_006767.4(LZTR1):c.263G>T (p.Gly88Val) rs1051725799
NM_006767.4(LZTR1):c.26G>A (p.Gly9Glu) rs756485244
NM_006767.4(LZTR1):c.27del (p.Gln10fs) rs587777613
NM_006767.4(LZTR1):c.421del (p.Tyr141fs)
NM_006767.4(LZTR1):c.423T>G (p.Tyr141Ter) rs141357465
NM_006767.4(LZTR1):c.510-6C>G rs2518614015
NM_006767.4(LZTR1):c.551G>A (p.Ser184Asn) rs2518614133
NM_006767.4(LZTR1):c.593+5G>A rs745541065
NM_006767.4(LZTR1):c.649G>T (p.Glu217Ter) rs1302923931
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006767.4(LZTR1):c.938G>A (p.Cys313Tyr) rs1488541459
NM_006912.6(RIT1):c.11G>A (p.Gly4Glu) rs2102591253
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro) rs869025191
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.268A>G (p.Met90Val) rs1557960039
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006939.4(SOS2):c.1861T>G (p.Phe621Val) rs1555370029
NM_006939.4(SOS2):c.3540TCC[4] (p.Pro1183dup) rs765097073
NM_033360.4(KRAS):c.*101_*106del rs1339924833

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