ClinVar Miner

List of variants studied for Noonan syndrome 4

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 440
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.2964+43C>A rs1454223 0.94284
NM_005633.4(SOS1):c.*2567T>A rs6704656 0.94064
NM_005633.4(SOS1):c.720+25C>G rs997344 0.92897
NM_005633.4(SOS1):c.*1844A>G rs10166395 0.80685
NM_005633.4(SOS1):c.*3918T>C rs1043793 0.79061
NM_005633.4(SOS1):c.*3539T>C rs1037495 0.79060
NM_005633.4(SOS1):c.*328A>G rs1059310 0.52005
NM_005633.4(SOS1):c.*805C>A rs1059313 0.14564
NM_005633.4(SOS1):c.*3724T>C rs11124658 0.04952
NM_005633.4(SOS1):c.195A>C (p.Arg65=) rs7609455 0.03809
NM_005633.4(SOS1):c.3081+32A>G rs6723430 0.02350
NM_005633.4(SOS1):c.*1731A>G rs79270739 0.01859
NM_005633.4(SOS1):c.1203-20T>C rs112906251 0.01058
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu) rs56219475 0.00787
NM_005633.4(SOS1):c.*3458A>C rs114232209 0.00673
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_005633.4(SOS1):c.2167+6T>G rs186640807 0.00510
NM_005633.4(SOS1):c.*3451A>T rs78411167 0.00429
NM_005633.4(SOS1):c.*3569T>C rs115465194 0.00421
NM_005633.4(SOS1):c.345+15C>T rs75937422 0.00407
NM_005633.4(SOS1):c.*758A>T rs182650589 0.00372
NM_005633.4(SOS1):c.*2983C>T rs190454003 0.00352
NM_005633.4(SOS1):c.2997T>C (p.Asn999=) rs145364368 0.00352
NM_005633.4(SOS1):c.*2517C>T rs150628082 0.00321
NM_005633.4(SOS1):c.*1309A>G rs145273962 0.00319
NM_005633.4(SOS1):c.*1303C>A rs115153488 0.00308
NM_005633.4(SOS1):c.2673+14T>C rs183998234 0.00304
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
NM_005633.4(SOS1):c.*2160C>T rs116651056 0.00276
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 0.00223
NM_005633.4(SOS1):c.1230G>A (p.Gln410=) rs141390073 0.00217
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671 0.00164
NM_005633.4(SOS1):c.213+16T>C rs150536159 0.00128
NM_005633.4(SOS1):c.*3592C>T rs550315455 0.00113
NM_005633.4(SOS1):c.*3367G>A rs145904123 0.00108
NM_005633.4(SOS1):c.*534C>T rs773935049 0.00089
NM_005633.4(SOS1):c.2238T>C (p.Asn746=) rs75877625 0.00084
NM_005633.4(SOS1):c.73C>T (p.Pro25Ser) rs139592595 0.00082
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_005633.4(SOS1):c.*44T>C rs182657531 0.00060
NM_005633.4(SOS1):c.*559C>T rs572880679 0.00059
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile) rs142004123 0.00053
NM_005633.4(SOS1):c.*3989G>C rs751112874 0.00052
NM_005633.4(SOS1):c.2760G>A (p.Arg920=) rs149092581 0.00051
NM_005633.4(SOS1):c.345+12_345+13dup rs397517167 0.00050
NM_005633.4(SOS1):c.1203-13T>A rs145166996 0.00049
NM_005633.4(SOS1):c.*4014T>C rs186738827 0.00040
NM_005633.4(SOS1):c.*1085A>G rs539192287 0.00039
NM_005633.4(SOS1):c.*3725T>C rs72799430 0.00038
NM_005633.4(SOS1):c.*1762A>C rs374339697 0.00026
NM_005633.4(SOS1):c.*1552T>A rs139679723 0.00021
NM_005633.4(SOS1):c.*3252A>C rs769883659 0.00020
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val) rs200786705 0.00019
NM_005633.4(SOS1):c.*185A>G rs556367844 0.00018
NM_005633.4(SOS1):c.*4C>T rs188849286 0.00018
NM_005633.4(SOS1):c.1489C>A (p.Arg497=) rs542368621 0.00018
NM_005633.4(SOS1):c.2964+17A>G rs201906525 0.00018
NM_005633.4(SOS1):c.87+15G>C rs375493196 0.00018
NM_005633.4(SOS1):c.214-10A>G rs371447614 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.109A>G (p.Thr37Ala) rs150565592 0.00016
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_005633.4(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734 0.00016
NM_005633.4(SOS1):c.*1684G>C rs886056012 0.00014
NM_005633.4(SOS1):c.1962G>A (p.Glu654=) rs144382701 0.00014
NM_005633.4(SOS1):c.1668A>C (p.Val556=) rs376314461 0.00013
NM_005633.4(SOS1):c.*664C>T rs771800455 0.00011
NM_005633.4(SOS1):c.1647A>G (p.Thr549=) rs139683425 0.00011
NM_005633.4(SOS1):c.3357C>T (p.Thr1119=) rs373319212 0.00011
NM_005633.4(SOS1):c.1269C>T (p.Asn423=) rs138459502 0.00010
NM_005633.4(SOS1):c.1566T>C (p.Asn522=) rs145325119 0.00010
NM_005633.4(SOS1):c.3418T>A (p.Leu1140Ile) rs375550588 0.00010
NM_005633.4(SOS1):c.553A>G (p.Ile185Val) rs143962515 0.00010
NM_005633.4(SOS1):c.*1641A>G rs760193823 0.00009
NM_005633.4(SOS1):c.2510+19C>G rs375675348 0.00009
NM_005633.4(SOS1):c.7G>T (p.Ala3Ser) rs533757634 0.00009
NM_005633.4(SOS1):c.*1477G>A rs1029291502 0.00008
NM_005633.4(SOS1):c.*421A>G rs973373222 0.00008
NM_005633.4(SOS1):c.*4221C>T rs565544523 0.00008
NM_005633.4(SOS1):c.1829T>C (p.Ile610Thr) rs776146535 0.00007
NM_005633.4(SOS1):c.1854C>T (p.Tyr618=) rs727505181 0.00007
NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu) rs730881034 0.00007
NM_005633.4(SOS1):c.*1516G>A rs550823381 0.00006
NM_005633.4(SOS1):c.1018C>T (p.Pro340Ser) rs190222208 0.00006
NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala) rs553805862 0.00006
NM_005633.4(SOS1):c.929G>A (p.Arg310His) rs143481916 0.00006
NM_005633.4(SOS1):c.2312T>C (p.Ile771Thr) rs557328600 0.00005
NM_005633.4(SOS1):c.587C>T (p.Ser196Leu) rs199898869 0.00005
NM_005633.4(SOS1):c.864+12A>C rs374379005 0.00005
NM_005633.4(SOS1):c.*2056A>C rs532255169 0.00004
NM_005633.4(SOS1):c.*2662G>A rs141841546 0.00004
NM_005633.4(SOS1):c.*873C>T rs961299565 0.00004
NM_005633.4(SOS1):c.1095A>G (p.Glu365=) rs767540464 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_005633.4(SOS1):c.1621T>C (p.Leu541=) rs371286473 0.00004
NM_005633.4(SOS1):c.1720G>A (p.Val574Ile) rs727504641 0.00004
NM_005633.4(SOS1):c.1842G>A (p.Thr614=) rs143750479 0.00004
NM_005633.4(SOS1):c.1859-3T>C rs199727062 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_005633.4(SOS1):c.3737A>G (p.Asn1246Ser) rs374110460 0.00004
NM_005633.4(SOS1):c.382G>A (p.Val128Ile) rs752402979 0.00004
NM_005633.4(SOS1):c.3857C>T (p.Ser1286Phe) rs374341202 0.00004
NM_005633.4(SOS1):c.3942C>T (p.His1314=) rs778838515 0.00004
NM_005633.4(SOS1):c.*1270T>C rs1019150969 0.00003
NM_005633.4(SOS1):c.*223C>T rs886056022 0.00003
NM_005633.4(SOS1):c.*3727G>C rs886056004 0.00003
NM_005633.4(SOS1):c.1558G>A (p.Asp520Asn) rs754115060 0.00003
NM_005633.4(SOS1):c.1672A>G (p.Met558Val) rs371295853 0.00003
NM_005633.4(SOS1):c.1988T>C (p.Ile663Thr) rs1048869073 0.00003
NM_005633.4(SOS1):c.3697C>A (p.Leu1233Ile) rs777373438 0.00003
NM_005633.4(SOS1):c.3806C>G (p.Thr1269Arg) rs370528448 0.00003
NM_005633.4(SOS1):c.510+9C>G rs553448375 0.00003
NM_005633.4(SOS1):c.599C>G (p.Thr200Ser) rs143007609 0.00003
NM_005633.4(SOS1):c.66A>G (p.Leu22=) rs770539511 0.00003
NM_005633.4(SOS1):c.9G>A (p.Ala3=) rs566601513 0.00003
NM_005633.4(SOS1):c.*1385A>G rs868000333 0.00002
NM_005633.4(SOS1):c.*1391C>T rs1033636331 0.00002
NM_005633.4(SOS1):c.*230T>C rs1264452853 0.00002
NM_005633.4(SOS1):c.*4076C>T rs1040937396 0.00002
NM_005633.4(SOS1):c.1010A>G (p.Tyr337Cys) rs724160007 0.00002
NM_005633.4(SOS1):c.1251A>C (p.Leu417=) rs144027132 0.00002
NM_005633.4(SOS1):c.169A>T (p.Asn57Tyr) rs765764610 0.00002
NM_005633.4(SOS1):c.2007C>G (p.Pro669=) rs529749913 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.3148A>G (p.Met1050Val) rs886041814 0.00002
NM_005633.4(SOS1):c.3347-3C>T rs779326746 0.00002
NM_005633.4(SOS1):c.3384T>C (p.His1128=) rs1412775460 0.00002
NM_005633.4(SOS1):c.3412A>G (p.Ile1138Val) rs56248239 0.00002
NM_005633.4(SOS1):c.3502C>G (p.Pro1168Ala) rs756406841 0.00002
NM_005633.4(SOS1):c.3592A>G (p.Ile1198Val) rs747534810 0.00002
NM_005633.4(SOS1):c.3821C>G (p.Pro1274Arg) rs886041565 0.00002
NM_005633.4(SOS1):c.396A>T (p.Ala132=) rs727505385 0.00002
NM_005633.4(SOS1):c.755T>C (p.Ile252Thr) rs142094234 0.00002
NM_005633.4(SOS1):c.87+12G>T rs368569135 0.00002
NM_005633.4(SOS1):c.899G>A (p.Arg300Gln) rs754374236 0.00002
NM_005633.4(SOS1):c.979A>G (p.Ile327Val) rs758546951 0.00002
NM_005633.4(SOS1):c.*2218T>A rs886056009 0.00001
NM_005633.4(SOS1):c.*2497G>A rs886056008 0.00001
NM_005633.4(SOS1):c.*3041A>C rs1167439482 0.00001
NM_005633.4(SOS1):c.*4265A>G rs377303107 0.00001
NM_005633.4(SOS1):c.*544C>T rs886056020 0.00001
NM_005633.4(SOS1):c.*642T>C rs886056019 0.00001
NM_005633.4(SOS1):c.1075-16C>T rs112540686 0.00001
NM_005633.4(SOS1):c.1191A>G (p.Lys397=) rs770175415 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.1271A>G (p.Glu424Gly) rs730881042 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.1412G>C (p.Cys471Ser) rs397517151 0.00001
NM_005633.4(SOS1):c.143T>C (p.Val48Ala) rs373898570 0.00001
NM_005633.4(SOS1):c.1458A>G (p.Ala486=) rs772746896 0.00001
NM_005633.4(SOS1):c.1564A>C (p.Asn522His) rs761094509 0.00001
NM_005633.4(SOS1):c.1574T>C (p.Ile525Thr) rs146722878 0.00001
NM_005633.4(SOS1):c.1607A>G (p.Asn536Ser) rs1363908468 0.00001
NM_005633.4(SOS1):c.1626A>G (p.Ile542Met) rs746798986 0.00001
NM_005633.4(SOS1):c.1627T>C (p.Ser543Pro) rs981234810 0.00001
NM_005633.4(SOS1):c.1635G>A (p.Gln545=) rs1240207005 0.00001
NM_005633.4(SOS1):c.1640G>A (p.Arg547Gln) rs149775695 0.00001
NM_005633.4(SOS1):c.1681G>A (p.Glu561Lys) rs1393222137 0.00001
NM_005633.4(SOS1):c.1820T>C (p.Ile607Thr) rs758699499 0.00001
NM_005633.4(SOS1):c.1848T>C (p.His616=) rs1344852617 0.00001
NM_005633.4(SOS1):c.1863C>T (p.Pro621=) rs759125551 0.00001
NM_005633.4(SOS1):c.1931T>C (p.Ile644Thr) rs769891933 0.00001
NM_005633.4(SOS1):c.1956G>A (p.Glu652=) rs1365773428 0.00001
NM_005633.4(SOS1):c.1983A>G (p.Ile661Met) rs747203627 0.00001
NM_005633.4(SOS1):c.1995T>C (p.Asn665=) rs779262456 0.00001
NM_005633.4(SOS1):c.199G>A (p.Ala67Thr) rs730881053 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.2121T>C (p.Asp707=) rs571408451 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.2227G>C (p.Ala743Pro) rs759584440 0.00001
NM_005633.4(SOS1):c.2351T>C (p.Ile784Thr) rs1335137808 0.00001
NM_005633.4(SOS1):c.2454T>C (p.Ser818=) rs748802612 0.00001
NM_005633.4(SOS1):c.2489A>G (p.Asn830Ser) rs397517158 0.00001
NM_005633.4(SOS1):c.2604T>C (p.Phe868=) rs756520305 0.00001
NM_005633.4(SOS1):c.2606A>G (p.Asn869Ser) rs730881030 0.00001
NM_005633.4(SOS1):c.2684G>A (p.Ser895Asn) rs1164976822 0.00001
NM_005633.4(SOS1):c.2739G>A (p.Lys913=) rs997339872 0.00001
NM_005633.4(SOS1):c.281T>C (p.Ile94Thr) rs397517161 0.00001
NM_005633.4(SOS1):c.2945G>A (p.Arg982Gln) rs1553351453 0.00001
NM_005633.4(SOS1):c.2990T>C (p.Met997Thr) rs1321926273 0.00001
NM_005633.4(SOS1):c.3033C>T (p.Asn1011=) rs1196614292 0.00001
NM_005633.4(SOS1):c.3060C>T (p.Asn1020=) rs142431345 0.00001
NM_005633.4(SOS1):c.3093T>C (p.Tyr1031=) rs766864647 0.00001
NM_005633.4(SOS1):c.3114T>G (p.Pro1038=) rs777755307 0.00001
NM_005633.4(SOS1):c.3197G>C (p.Ser1066Thr) rs1428068201 0.00001
NM_005633.4(SOS1):c.3257C>T (p.Pro1086Leu) rs730881028 0.00001
NM_005633.4(SOS1):c.3274G>A (p.Ala1092Thr) rs373948887 0.00001
NM_005633.4(SOS1):c.3282T>G (p.Gly1094=) rs145357714 0.00001
NM_005633.4(SOS1):c.3352G>T (p.Asp1118Tyr) rs1276062555 0.00001
NM_005633.4(SOS1):c.3370G>A (p.Val1124Ile) rs1342428273 0.00001
NM_005633.4(SOS1):c.3438A>G (p.Glu1146=) rs1226908698 0.00001
NM_005633.4(SOS1):c.3504A>G (p.Pro1168=) rs748617507 0.00001
NM_005633.4(SOS1):c.3524A>C (p.His1175Pro) rs730881035 0.00001
NM_005633.4(SOS1):c.3531C>A (p.Asp1177Glu) rs730881049 0.00001
NM_005633.4(SOS1):c.3585A>G (p.Arg1195=) rs587781173 0.00001
NM_005633.4(SOS1):c.3610A>G (p.Ile1204Val) rs374497013 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.3732T>C (p.His1244=) rs1391583247 0.00001
NM_005633.4(SOS1):c.3763C>A (p.Pro1255Thr) rs972166211 0.00001
NM_005633.4(SOS1):c.376G>A (p.Val126Ile) rs755770649 0.00001
NM_005633.4(SOS1):c.3795T>G (p.Ser1265=) rs538954728 0.00001
NM_005633.4(SOS1):c.3832T>C (p.Leu1278=) rs750354913 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.3987T>C (p.Asn1329=) rs936986823 0.00001
NM_005633.4(SOS1):c.429G>A (p.Lys143=) rs773264070 0.00001
NM_005633.4(SOS1):c.464A>G (p.Tyr155Cys) rs1188280924 0.00001
NM_005633.4(SOS1):c.543A>G (p.Glu181=) rs201068374 0.00001
NM_005633.4(SOS1):c.552T>C (p.Asn184=) rs727503438 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.638G>A (p.Arg213Gln) rs374761537 0.00001
NM_005633.4(SOS1):c.643T>C (p.Tyr215His) rs730881039 0.00001
NM_005633.4(SOS1):c.675T>G (p.Val225=) rs371482290 0.00001
NM_005633.4(SOS1):c.754A>C (p.Ile252Leu) rs1158811958 0.00001
NM_005633.4(SOS1):c.783C>A (p.Gly261=) rs951992465 0.00001
NM_005633.4(SOS1):c.795T>C (p.Asp265=) rs777745085 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.865-4T>C rs750788947 0.00001
NM_005633.4(SOS1):c.87+9C>T rs397517179 0.00001
NM_005633.4(SOS1):c.890C>T (p.Ser297Leu) rs779162761 0.00001
NM_005633.4(SOS1):c.984C>T (p.Gly328=) rs778223456 0.00001
NM_005633.4(SOS1):c.985G>A (p.Glu329Lys) rs756679265 0.00001
NC_000002.11:g.39263079_(39347604_?)dup
NM_005633.4(SOS1):c.*1049G>T rs992013519
NM_005633.4(SOS1):c.*110C>A rs1668534690
NM_005633.4(SOS1):c.*1224A>G rs886056015
NM_005633.4(SOS1):c.*1333_*1336dup rs35969619
NM_005633.4(SOS1):c.*1396G>T rs974302565
NM_005633.4(SOS1):c.*1412A>G rs1668490693
NM_005633.4(SOS1):c.*1535G>A rs1668487434
NM_005633.4(SOS1):c.*1589T>G rs886056014
NM_005633.4(SOS1):c.*1606del rs34248802
NM_005633.4(SOS1):c.*1678C>A rs886056013
NM_005633.4(SOS1):c.*1694del rs767903412
NM_005633.4(SOS1):c.*1998G>T rs1285805260
NM_005633.4(SOS1):c.*2138G>T rs184227916
NM_005633.4(SOS1):c.*218T>G rs1258255790
NM_005633.4(SOS1):c.*21A>G rs532419541
NM_005633.4(SOS1):c.*2244_*2245dup rs3832123
NM_005633.4(SOS1):c.*2246A>T rs1668462557
NM_005633.4(SOS1):c.*2257C>G rs1020523755
NM_005633.4(SOS1):c.*2512C>A rs1239076061
NM_005633.4(SOS1):c.*2574A>G rs539933930
NM_005633.4(SOS1):c.*2893C>A rs1668445130
NM_005633.4(SOS1):c.*3149C>T rs541644361
NM_005633.4(SOS1):c.*3158T>C rs913024422
NM_005633.4(SOS1):c.*3230T>C rs1572793043
NM_005633.4(SOS1):c.*3291C>T rs748136708
NM_005633.4(SOS1):c.*3326T>C rs1668433787
NM_005633.4(SOS1):c.*3463A>G rs886056006
NM_005633.4(SOS1):c.*3750T>C rs1034733063
NM_005633.4(SOS1):c.*3811T>C rs1297949357
NM_005633.4(SOS1):c.*4077G>T rs763838346
NM_005633.4(SOS1):c.*408C>T rs1572795423
NM_005633.4(SOS1):c.*4110C>A rs886056003
NM_005633.4(SOS1):c.*483A>C rs1668521466
NM_005633.4(SOS1):c.*855G>A rs886056017
NM_005633.4(SOS1):c.*909G>A rs147219108
NM_005633.4(SOS1):c.1009T>C (p.Tyr337His) rs2124562542
NM_005633.4(SOS1):c.1019C>A (p.Pro340His) rs1367541617
NM_005633.4(SOS1):c.1035C>G (p.Ala345=) rs557313301
NM_005633.4(SOS1):c.1074+1966C>G rs2124558711
NM_005633.4(SOS1):c.1098T>A (p.Asp366Glu) rs730881040
NM_005633.4(SOS1):c.1132A>G (p.Thr378Ala) rs397517146
NM_005633.4(SOS1):c.1203-8T>C rs1669853901
NM_005633.4(SOS1):c.1269C>G (p.Asn423Lys) rs138459502
NM_005633.4(SOS1):c.1286T>C (p.Ile429Thr) rs755862687
NM_005633.4(SOS1):c.1289A>G (p.Asp430Gly) rs2124537699
NM_005633.4(SOS1):c.1291G>A (p.Gly431Ser) rs1223347034
NM_005633.4(SOS1):c.1294T>C (p.Trp432Arg) rs267607080
NM_005633.4(SOS1):c.1297G>A (p.Glu433Lys) rs397517147
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.1300G>C (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.1310T>A (p.Ile437Asn) rs397517150
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.4(SOS1):c.1310T>G (p.Ile437Ser) rs397517150
NM_005633.4(SOS1):c.1322G>A (p.Cys441Tyr) rs727504295
NM_005633.4(SOS1):c.1333A>G (p.Ile445Val) rs2124537533
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.1370A>G (p.His457Arg) rs1060503524
NM_005633.4(SOS1):c.1379A>G (p.His460Arg)
NM_005633.4(SOS1):c.137A>T (p.Gln46Leu) rs1190714377
NM_005633.4(SOS1):c.1393_1394delinsTT (p.Asp465Phe)
NM_005633.4(SOS1):c.1430A>G (p.Gln477Arg) rs730881044
NM_005633.4(SOS1):c.1473_1474insAAAAAAAAA (p.Lys491_Glu492insLysLysLys)
NM_005633.4(SOS1):c.157T>G (p.Leu53Val)
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005633.4(SOS1):c.1644T>A (p.Ser548Arg) rs730881045
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro) rs397517153
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr) rs397517154
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.1659G>A (p.Met553Ile) rs886056025
NM_005633.4(SOS1):c.1660C>A (p.Leu554Ile) rs757341897
NM_005633.4(SOS1):c.1670C>T (p.Thr557Ile) rs1245953394
NM_005633.4(SOS1):c.1674G>A (p.Met558Ile)
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.1698G>C (p.Gln566His)
NM_005633.4(SOS1):c.1707G>A (p.Leu569=) rs1479407572
NM_005633.4(SOS1):c.1727G>T (p.Arg576Ile) rs1553356023
NM_005633.4(SOS1):c.1770G>C (p.Glu590Asp) rs553331572
NM_005633.4(SOS1):c.1867T>A (p.Phe623Ile) rs727505093
NM_005633.4(SOS1):c.1935A>G (p.Ile645Met) rs2124520154
NM_005633.4(SOS1):c.196A>G (p.Ser66Gly)
NM_005633.4(SOS1):c.2063+44T>C rs111576630
NM_005633.4(SOS1):c.2064-20A>T rs756707478
NM_005633.4(SOS1):c.2104T>C (p.Tyr702His) rs727505381
NM_005633.4(SOS1):c.2117G>A (p.Arg706Lys) rs2124517554
NM_005633.4(SOS1):c.213+14_213+16del rs768872084
NM_005633.4(SOS1):c.2167+16del rs79984786
NM_005633.4(SOS1):c.2167+16dup rs79984786
NM_005633.4(SOS1):c.2167+5dup
NM_005633.4(SOS1):c.2183A>T (p.Lys728Ile) rs397517156
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe) rs574088829
NM_005633.4(SOS1):c.21C>T (p.Pro7=) rs727504845
NM_005633.4(SOS1):c.2237A>G (p.Asn746Ser) rs975491573
NM_005633.4(SOS1):c.2253T>G (p.Asn751Lys) rs1553354376
NM_005633.4(SOS1):c.225A>G (p.Gln75=) rs560037748
NM_005633.4(SOS1):c.2316G>C (p.Glu772Asp) rs1176763588
NM_005633.4(SOS1):c.2356C>T (p.Arg786Ter) rs2124514851
NM_005633.4(SOS1):c.23A>T (p.Tyr8Phe) rs781093356
NM_005633.4(SOS1):c.2446A>G (p.Ile816Val) rs2124511484
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.2511-9del rs727503436
NM_005633.4(SOS1):c.2517T>C (p.Ile839=) rs776366413
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys) rs397517159
NM_005633.4(SOS1):c.25G>A (p.Glu9Lys) rs1347187972
NM_005633.4(SOS1):c.2661C>A (p.Asp887Glu) rs2124503229
NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys) rs1553353452
NM_005633.4(SOS1):c.2674-22C>G rs61601281
NM_005633.4(SOS1):c.2674-7C>T rs1015610936
NM_005633.4(SOS1):c.2674-9del rs532594344
NM_005633.4(SOS1):c.2674-9dup rs532594344
NM_005633.4(SOS1):c.273A>G (p.Gln91=) rs914110575
NM_005633.4(SOS1):c.2764A>G (p.Ile922Val) rs780420674
NM_005633.4(SOS1):c.2775A>T (p.Pro925=) rs397517160
NM_005633.4(SOS1):c.2789T>C (p.Phe930Ser) rs886056024
NM_005633.4(SOS1):c.2792-50dup rs869215095
NM_005633.4(SOS1):c.2836G>C (p.Glu946Gln) rs1558460847
NM_005633.4(SOS1):c.2861A>C (p.Glu954Ala)
NM_005633.4(SOS1):c.2930A>G (p.Gln977Arg) rs2124479522
NM_005633.4(SOS1):c.2973T>G (p.Phe991Leu)
NM_005633.4(SOS1):c.305C>G (p.Pro102Arg) rs1553362937
NM_005633.4(SOS1):c.305C>T (p.Pro102Leu)
NM_005633.4(SOS1):c.3068C>G (p.Pro1023Arg) rs1572806229
NM_005633.4(SOS1):c.3092A>G (p.Tyr1031Cys) rs1668861106
NM_005633.4(SOS1):c.3134C>G (p.Pro1045Arg) rs1668859370
NM_005633.4(SOS1):c.3195T>C (p.Tyr1065=) rs1280224224
NM_005633.4(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_005633.4(SOS1):c.3242A>G (p.Asn1081Ser) rs992722303
NM_005633.4(SOS1):c.3248dup (p.Arg1084fs) rs387906518
NM_005633.4(SOS1):c.3298G>T (p.Asp1100Tyr) rs1668850707
NM_005633.4(SOS1):c.3317A>G (p.Asp1106Gly)
NM_005633.4(SOS1):c.3329C>G (p.Ser1110Trp) rs572955351
NM_005633.4(SOS1):c.3391+3_3391+6del rs756201866
NM_005633.4(SOS1):c.3391+5G>C rs1668654438
NM_005633.4(SOS1):c.3399T>C (p.Ala1133=)
NM_005633.4(SOS1):c.3451C>T (p.Pro1151Ser) rs2124458641
NM_005633.4(SOS1):c.3534T>A (p.Ser1178Arg) rs1572796568
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.3624T>C (p.Pro1208=) rs763107563
NM_005633.4(SOS1):c.3658G>A (p.Val1220Met) rs776814547
NM_005633.4(SOS1):c.3693A>G (p.Leu1231=) rs772625418
NM_005633.4(SOS1):c.3709C>T (p.Pro1237Ser) rs371408734
NM_005633.4(SOS1):c.3724A>G (p.Ser1242Gly) rs1293079271
NM_005633.4(SOS1):c.3748C>T (p.Pro1250Ser) rs1668548624
NM_005633.4(SOS1):c.3778C>G (p.Pro1260Ala) rs779336305
NM_005633.4(SOS1):c.3793T>G (p.Ser1265Ala) rs886056023
NM_005633.4(SOS1):c.3793_3795del (p.Ser1265del)
NM_005633.4(SOS1):c.3813G>A (p.Arg1271=) rs863224405
NM_005633.4(SOS1):c.3839AAG[3] (p.Glu1281dup) rs1175436231
NM_005633.4(SOS1):c.3857C>G (p.Ser1286Cys) rs374341202
NM_005633.4(SOS1):c.38A>G (p.Glu13Gly) rs2148243276
NM_005633.4(SOS1):c.3928T>A (p.Tyr1310Asn)
NM_005633.4(SOS1):c.3956T>G (p.Met1319Arg) rs730881036
NM_005633.4(SOS1):c.3959A>C (p.His1320Pro)
NM_005633.4(SOS1):c.3960C>G (p.His1320Gln) rs1553349464
NM_005633.4(SOS1):c.3971C>G (p.Pro1324Arg) rs727503434
NM_005633.4(SOS1):c.427A>G (p.Lys143Glu) rs1671228827
NM_005633.4(SOS1):c.445G>A (p.Val149Ile)
NM_005633.4(SOS1):c.487A>G (p.Lys163Glu) rs886042206
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005633.4(SOS1):c.511-9_511-6del rs986512473
NM_005633.4(SOS1):c.512T>G (p.Val171Gly) rs397517174
NM_005633.4(SOS1):c.541G>A (p.Glu181Lys) rs1671148501
NM_005633.4(SOS1):c.543A>C (p.Glu181Asp) rs201068374
NM_005633.4(SOS1):c.548T>C (p.Ile183Thr) rs772569423
NM_005633.4(SOS1):c.5A>T (p.Gln2Leu) rs886056026
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.697A>T (p.Asn233Tyr) rs1057519963
NM_005633.4(SOS1):c.706T>C (p.Leu236=) rs1418372765
NM_005633.4(SOS1):c.720+1G>A
NM_005633.4(SOS1):c.720T>C (p.Asn240=) rs779699814
NM_005633.4(SOS1):c.730A>G (p.Asn244Asp) rs1671008499
NM_005633.4(SOS1):c.742C>T (p.Arg248Cys) rs1671008126
NM_005633.4(SOS1):c.743G>T (p.Arg248Leu) rs775052125
NM_005633.4(SOS1):c.754A>G (p.Ile252Val) rs1158811958
NM_005633.4(SOS1):c.771A>G (p.Val257=) rs1671007109
NM_005633.4(SOS1):c.788T>C (p.Ile263Thr) rs1310500908
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_005633.4(SOS1):c.800T>C (p.Val267Ala)
NM_005633.4(SOS1):c.805A>G (p.Met269Val)
NM_005633.4(SOS1):c.806T>A (p.Met269Lys)
NM_005633.4(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_005633.4(SOS1):c.806T>G (p.Met269Arg) rs137852813
NM_005633.4(SOS1):c.829C>A (p.Pro277Thr) rs1057517871
NM_005633.4(SOS1):c.844T>C (p.Cys282Arg) rs1671004485
NM_005633.4(SOS1):c.848T>C (p.Phe283Ser) rs1572855029
NM_005633.4(SOS1):c.87+6G>T rs777383378
NM_005633.4(SOS1):c.891G>A (p.Ser297=) rs1572841459
NM_005633.4(SOS1):c.925G>A (p.Asp309Asn) rs397517180
NM_005633.4(SOS1):c.925G>T (p.Asp309Tyr) rs397517180
NM_005633.4(SOS1):c.961G>A (p.Ala321Thr) rs1558480612
NM_005633.4(SOS1):c.976-3dup rs745490729
NM_005633.4(SOS1):c.976-5dup rs771586560

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