ClinVar Miner

List of variants studied for gingival disorder

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 593
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.*2567T>A rs6704656 0.94064
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_002029.4(FPR1):c.32T>C (p.Ile11Thr) rs5030878 0.78476
NM_005633.4(SOS1):c.*328A>G rs1059310 0.52005
NM_002029.4(FPR1):c.301G>C (p.Val101Leu) rs2070745 0.36919
NM_002029.4(FPR1):c.546C>A (p.Pro182=) rs2070746 0.30428
NM_005633.4(SOS1):c.*805C>A rs1059313 0.14564
NM_002029.4(FPR1):c.568A>T (p.Arg190Trp) rs5030880 0.11833
NM_002029.4(FPR1):c.348C>T (p.Ile116=) rs5030879 0.09659
NM_005633.4(SOS1):c.*3724T>C rs11124658 0.04952
NM_005633.4(SOS1):c.195A>C (p.Arg65=) rs7609455 0.03809
NM_002029.4(FPR1):c.306T>C (p.Phe102=) rs28930680 0.02812
NM_005633.4(SOS1):c.3081+32A>G rs6723430 0.02350
NM_002029.4(FPR1):c.993C>T (p.Thr331=) rs17849971 0.02106
NM_002029.4(FPR1):c.177C>T (p.Val59=) rs61736491 0.01938
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.*3458A>C rs114232209 0.00673
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_002029.4(FPR1):c.488G>A (p.Arg163His) rs111768566 0.00604
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_002029.4(FPR1):c.806G>A (p.Arg269His) rs142210016 0.00377
NM_005633.4(SOS1):c.*758A>T rs182650589 0.00372
NM_002029.4(FPR1):c.289C>A (p.Leu97Met) rs78488639 0.00362
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_002029.4(FPR1):c.645C>T (p.Ser215=) rs35264765 0.00271
NM_005633.4(SOS1):c.*4023T>C rs1043800 0.00233
NM_005633.4(SOS1):c.570C>T (p.Asp190=) rs55980502 0.00233
NM_002029.4(FPR1):c.607A>G (p.Ile203Val) rs150239733 0.00230
NM_005633.4(SOS1):c.3081+13A>G rs189695571 0.00223
NM_005633.4(SOS1):c.1230G>A (p.Gln410=) rs141390073 0.00217
NM_002029.4(FPR1):c.26C>T (p.Thr9Met) rs148095693 0.00215
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_002029.4(FPR1):c.117C>T (p.Leu39=) rs149382837 0.00111
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_002029.4(FPR1):c.368G>A (p.Arg123His) rs149931707 0.00041
NM_002029.4(FPR1):c.440T>C (p.Ile147Thr) rs142367736 0.00041
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_005612.5(REST):c.898+15C>T rs148949163 0.00026
NM_005633.4(SOS1):c.*1762A>C rs374339697 0.00026
NM_005633.4(SOS1):c.*1552T>A rs139679723 0.00021
NM_002029.4(FPR1):c.379G>A (p.Val127Ile) rs186613919 0.00020
NM_002029.4(FPR1):c.559C>T (p.Pro187Ser) rs139760904 0.00020
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_002029.4(FPR1):c.858A>G (p.Thr286=) rs371692364 0.00017
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_002029.4(FPR1):c.553A>G (p.Asn185Asp) rs145973159 0.00016
NM_002029.4(FPR1):c.84C>T (p.Ile28=) rs143690932 0.00016
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.3709C>G (p.Pro1237Ala) rs371408734 0.00016
NM_002029.4(FPR1):c.1044G>A (p.Gln348=) rs150820622 0.00014
NM_002029.4(FPR1):c.713G>A (p.Arg238His) rs368075541 0.00014
NM_005633.4(SOS1):c.*1684G>C rs886056012 0.00014
NM_005633.4(SOS1):c.1962G>A (p.Glu654=) rs144382701 0.00014
NM_002029.4(FPR1):c.744A>C (p.Ala248=) rs145578657 0.00013
NM_002029.4(FPR1):c.943G>A (p.Ala315Thr) rs140083445 0.00013
NM_005633.4(SOS1):c.1668A>C (p.Val556=) rs376314461 0.00013
NM_002029.4(FPR1):c.132C>T (p.Asn44=) rs762415254 0.00011
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_002029.4(FPR1):c.161G>A (p.Arg54Gln) rs145808420 0.00010
NM_002029.4(FPR1):c.414C>T (p.Thr138=) rs151277630 0.00010
NM_002029.4(FPR1):c.674C>T (p.Ala225Val) rs141913828 0.00010
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.2165G>A (p.Arg722Lys) rs142666652 0.00010
NM_005633.4(SOS1):c.553A>G (p.Ile185Val) rs143962515 0.00010
NM_002029.4(FPR1):c.639C>T (p.Pro213=) rs141229910 0.00009
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_002029.4(FPR1):c.822C>T (p.Gly274=) rs547725110 0.00008
NM_002029.4(FPR1):c.957T>C (p.Ser319=) rs375541232 0.00008
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_002029.4(FPR1):c.378C>T (p.Cys126=) rs776424230 0.00007
NM_002029.4(FPR1):c.512C>T (p.Thr171Met) rs201110935 0.00007
NM_002029.4(FPR1):c.582C>T (p.Ala194=) rs747540806 0.00007
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_002029.4(FPR1):c.274C>A (p.Pro92Thr) rs750324912 0.00006
NM_002029.4(FPR1):c.330C>T (p.Phe110=) rs539229723 0.00006
NM_002029.4(FPR1):c.564A>G (p.Lys188=) rs369805689 0.00006
NM_002029.4(FPR1):c.634G>A (p.Ala212Thr) rs765164623 0.00006
NM_002029.4(FPR1):c.824T>C (p.Met275Thr) rs746593681 0.00006
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_002029.4(FPR1):c.519A>T (p.Thr173=) rs748615602 0.00005
NM_002029.4(FPR1):c.721C>T (p.Arg241Trp) rs147646924 0.00005
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_002029.4(FPR1):c.160C>T (p.Arg54Trp) rs138475342 0.00004
NM_002029.4(FPR1):c.189T>C (p.Ser63=) rs148014099 0.00004
NM_002029.4(FPR1):c.205G>A (p.Val69Met) rs199534146 0.00004
NM_002029.4(FPR1):c.381C>T (p.Val127=) rs760563008 0.00004
NM_002029.4(FPR1):c.445C>T (p.Pro149Ser) rs376781635 0.00004
NM_002029.4(FPR1):c.487C>T (p.Arg163Cys) rs564702916 0.00004
NM_002029.4(FPR1):c.555C>T (p.Asn185=) rs539893573 0.00004
NM_002029.4(FPR1):c.952G>A (p.Ala318Thr) rs201404212 0.00004
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_002029.4(FPR1):c.198C>A (p.Asn66Lys) rs371282377 0.00003
NM_002029.4(FPR1):c.738C>T (p.Val246=) rs148898220 0.00003
NM_002029.4(FPR1):c.926G>A (p.Arg309Gln) rs555690623 0.00003
NM_002029.4(FPR1):c.942C>T (p.His314=) rs749154560 0.00003
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_002029.4(FPR1):c.409C>T (p.Arg137Cys) rs139132326 0.00002
NM_002029.4(FPR1):c.472T>C (p.Leu158=) rs1471159412 0.00002
NM_002029.4(FPR1):c.513G>A (p.Thr171=) rs554681504 0.00002
NM_002029.4(FPR1):c.543G>A (p.Ser181=) rs753325158 0.00002
NM_002029.4(FPR1):c.570G>C (p.Arg190Ser) rs773162997 0.00002
NM_002029.4(FPR1):c.623T>C (p.Ile208Thr) rs200464393 0.00002
NM_002029.4(FPR1):c.954C>G (p.Ala318=) rs766700447 0.00002
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.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_002029.4(FPR1):c.1016C>T (p.Thr339Ile) rs1232982137 0.00001
NM_002029.4(FPR1):c.121G>A (p.Val41Ile) rs2083751098 0.00001
NM_002029.4(FPR1):c.139G>T (p.Val47Leu) rs759165021 0.00001
NM_002029.4(FPR1):c.156A>T (p.Gly52=) rs1389132373 0.00001
NM_002029.4(FPR1):c.21C>G (p.Leu7=) rs895586771 0.00001
NM_002029.4(FPR1):c.257C>T (p.Ala86Val) rs1197945289 0.00001
NM_002029.4(FPR1):c.27G>A (p.Thr9=) rs771642804 0.00001
NM_002029.4(FPR1):c.300C>T (p.Phe100=) rs199764870 0.00001
NM_002029.4(FPR1):c.331G>A (p.Gly111Arg) rs749737014 0.00001
NM_002029.4(FPR1):c.339C>A (p.Val113=) rs778269740 0.00001
NM_002029.4(FPR1):c.367C>T (p.Arg123Cys) rs764940294 0.00001
NM_002029.4(FPR1):c.407A>C (p.His136Pro) rs775451540 0.00001
NM_002029.4(FPR1):c.42G>A (p.Gly14=) rs866728748 0.00001
NM_002029.4(FPR1):c.474G>A (p.Leu158=) rs753449716 0.00001
NM_002029.4(FPR1):c.476C>G (p.Pro159Arg) rs763819355 0.00001
NM_002029.4(FPR1):c.511A>C (p.Thr171Pro) rs771064181 0.00001
NM_002029.4(FPR1):c.528C>T (p.Cys176=) rs769223294 0.00001
NM_002029.4(FPR1):c.542C>T (p.Ser181Leu) rs146075164 0.00001
NM_002029.4(FPR1):c.556G>A (p.Asp186Asn) rs571987775 0.00001
NM_002029.4(FPR1):c.596C>T (p.Thr199Met) rs748893408 0.00001
NM_002029.4(FPR1):c.613C>T (p.Arg205Trp) rs1489945041 0.00001
NM_002029.4(FPR1):c.652G>T (p.Ala218Ser) rs145775814 0.00001
NM_002029.4(FPR1):c.722G>A (p.Arg241Gln) rs752836535 0.00001
NM_002029.4(FPR1):c.751T>C (p.Phe251Leu) rs766818943 0.00001
NM_002029.4(FPR1):c.805C>T (p.Arg269Cys) rs771446051 0.00001
NM_002029.4(FPR1):c.80T>A (p.Ile27Asn) rs143088639 0.00001
NM_002029.4(FPR1):c.898C>G (p.Leu300Val) rs768241723 0.00001
NM_002029.4(FPR1):c.976G>A (p.Glu326Lys) rs551338523 0.00001
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.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.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.2344A>G (p.Ile782Val) rs778580742 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.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
46;XY;t(3;17)(p14.3;q24.3)dn
NC_000019.9:g.(?_52249195)_(52250247_?)dup
NM_002029.4(FPR1):c.1008C>A (p.Thr336=)
NM_002029.4(FPR1):c.1008C>T (p.Thr336=)
NM_002029.4(FPR1):c.1010A>G (p.Asn337Ser)
NM_002029.4(FPR1):c.1015A>G (p.Thr339Ala)
NM_002029.4(FPR1):c.1037A>C (p.Glu346Ala) rs867228
NM_002029.4(FPR1):c.1037_1038delinsCA (p.Glu346Ala) rs1555796329
NM_002029.4(FPR1):c.118G>A (p.Gly40Arg)
NM_002029.4(FPR1):c.12T>C (p.Asn4=) rs1479199724
NM_002029.4(FPR1):c.133G>A (p.Gly45Arg)
NM_002029.4(FPR1):c.139G>A (p.Val47Met)
NM_002029.4(FPR1):c.144C>G (p.Ile48Met)
NM_002029.4(FPR1):c.144C>T (p.Ile48=)
NM_002029.4(FPR1):c.15C>T (p.Ser5=)
NM_002029.4(FPR1):c.17C>T (p.Ser6Phe)
NM_002029.4(FPR1):c.185T>A (p.Ile62Asn)
NM_002029.4(FPR1):c.204C>T (p.Ala68=) rs143480239
NM_002029.4(FPR1):c.208G>A (p.Ala70Thr)
NM_002029.4(FPR1):c.211dup (p.Asp71fs)
NM_002029.4(FPR1):c.244A>G (p.Met82Val)
NM_002029.4(FPR1):c.245T>C (p.Met82Thr)
NM_002029.4(FPR1):c.258C>T (p.Ala86=)
NM_002029.4(FPR1):c.268C>T (p.His90Tyr)
NM_002029.4(FPR1):c.272G>A (p.Trp91Ter) rs2122323889
NM_002029.4(FPR1):c.275C>T (p.Pro92Leu) rs2122323856
NM_002029.4(FPR1):c.279C>T (p.Phe93=)
NM_002029.4(FPR1):c.27G>C (p.Thr9=) rs771642804
NM_002029.4(FPR1):c.284G>T (p.Trp95Leu)
NM_002029.4(FPR1):c.301G>A (p.Val101Ile) rs2070745
NM_002029.4(FPR1):c.30C>T (p.Asn10=) rs371185306
NM_002029.4(FPR1):c.333A>G (p.Gly111=)
NM_002029.4(FPR1):c.346A>T (p.Ile116Phe)
NM_002029.4(FPR1):c.349G>A (p.Ala117Thr)
NM_002029.4(FPR1):c.350C>T (p.Ala117Val)
NM_002029.4(FPR1):c.352C>G (p.Leu118Val)
NM_002029.4(FPR1):c.390A>G (p.Pro130=) rs2122323286
NM_002029.4(FPR1):c.396del (p.Val131_Trp132insTer)
NM_002029.4(FPR1):c.405C>T (p.Asn135=)
NM_002029.4(FPR1):c.408C>T (p.His136=)
NM_002029.4(FPR1):c.40G>A (p.Gly14Arg) rs1284082601
NM_002029.4(FPR1):c.410G>A (p.Arg137His)
NM_002029.4(FPR1):c.415G>A (p.Val139Met)
NM_002029.4(FPR1):c.436A>G (p.Ile146Val)
NM_002029.4(FPR1):c.439A>G (p.Ile147Val) rs183314714
NM_002029.4(FPR1):c.439A>T (p.Ile147Phe) rs183314714
NM_002029.4(FPR1):c.443G>C (p.Gly148Ala)
NM_002029.4(FPR1):c.444G>T (p.Gly148=)
NM_002029.4(FPR1):c.447C>T (p.Pro149=) rs778341723
NM_002029.4(FPR1):c.44C>A (p.Thr15Lys)
NM_002029.4(FPR1):c.453G>A (p.Val151=) rs2122322988
NM_002029.4(FPR1):c.456G>A (p.Met152Ile) rs2122322979
NM_002029.4(FPR1):c.465C>T (p.Leu155=)
NM_002029.4(FPR1):c.466C>T (p.Leu156Phe) rs2083746822
NM_002029.4(FPR1):c.484A>G (p.Ile162Val)
NM_002029.4(FPR1):c.486T>C (p.Ile162=) rs1848258347
NM_002029.4(FPR1):c.497C>T (p.Thr166Ile) rs2083746502
NM_002029.4(FPR1):c.506G>A (p.Gly169Asp)
NM_002029.4(FPR1):c.524C>T (p.Ala175Val)
NM_002029.4(FPR1):c.52G>A (p.Val18Ile)
NM_002029.4(FPR1):c.541T>C (p.Ser181Pro)
NM_002029.4(FPR1):c.548G>A (p.Trp183Ter)
NM_002029.4(FPR1):c.554A>G (p.Asn185Ser)
NM_002029.4(FPR1):c.56C>G (p.Ser19Cys)
NM_002029.4(FPR1):c.576T>C (p.Asn192=) rs1042229
NM_002029.4(FPR1):c.576T>G (p.Asn192Lys) rs1042229
NM_002029.4(FPR1):c.583G>A (p.Val195Ile)
NM_002029.4(FPR1):c.589A>G (p.Met197Val)
NM_002029.4(FPR1):c.591G>A (p.Met197Ile)
NM_002029.4(FPR1):c.618C>T (p.Phe206=) rs2122322070
NM_002029.4(FPR1):c.624T>C (p.Ile208=)
NM_002029.4(FPR1):c.641T>G (p.Met214Arg)
NM_002029.4(FPR1):c.642G>A (p.Met214Ile)
NM_002029.4(FPR1):c.646A>G (p.Ile216Val)
NM_002029.4(FPR1):c.648C>T (p.Ile216=)
NM_002029.4(FPR1):c.654T>A (p.Ala218=) rs2083744471
NM_002029.4(FPR1):c.682A>T (p.Ile228Phe)
NM_002029.4(FPR1):c.696C>G (p.Gly232=)
NM_002029.4(FPR1):c.69C>T (p.Leu23=)
NM_002029.4(FPR1):c.705G>A (p.Lys235=) rs1599806461
NM_002029.4(FPR1):c.707C>G (p.Ser236Cys) rs371524501
NM_002029.4(FPR1):c.710G>A (p.Ser237Asn) rs1302309228
NM_002029.4(FPR1):c.723G>T (p.Arg241=)
NM_002029.4(FPR1):c.726C>A (p.Val242=)
NM_002029.4(FPR1):c.726C>T (p.Val242=) rs143583727
NM_002029.4(FPR1):c.736G>T (p.Val246Phe) rs2083743451
NM_002029.4(FPR1):c.739G>A (p.Ala247Thr)
NM_002029.4(FPR1):c.752T>A (p.Phe251Tyr)
NM_002029.4(FPR1):c.758G>T (p.Cys253Phe) rs2122321483
NM_002029.4(FPR1):c.775G>A (p.Val259Met)
NM_002029.4(FPR1):c.77A>C (p.Asp26Ala)
NM_002029.4(FPR1):c.77A>G (p.Asp26Gly)
NM_002029.4(FPR1):c.79A>G (p.Ile27Val) rs769777199
NM_002029.4(FPR1):c.821G>C (p.Gly274Ala) rs2122321274
NM_002029.4(FPR1):c.823A>G (p.Met275Val) rs2083742597
NM_002029.4(FPR1):c.826T>C (p.Tyr276His) rs553738020
NM_002029.4(FPR1):c.827A>G (p.Tyr276Cys) rs1555796364
NM_002029.4(FPR1):c.829A>C (p.Lys277Gln)
NM_002029.4(FPR1):c.841A>G (p.Ile281Val)
NM_002029.4(FPR1):c.851A>G (p.Asp284Gly) rs757217120
NM_002029.4(FPR1):c.853G>A (p.Val285Met)
NM_002029.4(FPR1):c.876C>T (p.Phe292=)
NM_002029.4(FPR1):c.897G>A (p.Met299Ile)
NM_002029.4(FPR1):c.914G>T (p.Gly305Val)
NM_002029.4(FPR1):c.918G>A (p.Gln306=)
NM_002029.4(FPR1):c.919G>A (p.Asp307Asn) rs2083741511
NM_002029.4(FPR1):c.934C>T (p.Leu312=) rs2083741372
NM_002029.4(FPR1):c.955A>C (p.Ser319Arg) rs1599806193
NM_002029.4(FPR1):c.960G>A (p.Leu320=)
NM_002029.4(FPR1):c.969C>T (p.Ala323=) rs2122320667
NM_002029.4(FPR1):c.975C>G (p.Thr325=) rs768152901
NM_002029.4(FPR1):c.982T>C (p.Ser328Pro)
NM_005612.5(REST):c.1310T>A (p.Leu437Ter) rs1553904077
NM_005612.5(REST):c.238G>A (p.Gly80Arg) rs1342633562
NM_005612.5(REST):c.2413del (p.Leu805fs) rs1553904346
NM_005612.5(REST):c.2449C>T (p.Arg817Ter) rs1720961036
NM_005612.5(REST):c.2770C>T (p.Gln924Ter) rs1284461687
NM_005612.5(REST):c.2771_2793dup (p.Glu932delinsLysThrTer) rs2109578516
NM_005612.5(REST):c.2809A>T (p.Lys937Ter)
NM_005612.5(REST):c.2865_2866del (p.Asn958fs) rs1553904481
NM_005612.5(REST):c.3098A>G (p.His1033Arg) rs572949989
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.1035C>G (p.Ala345=) rs557313301
NM_005633.4(SOS1):c.1098T>A (p.Asp366Glu) rs730881040
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.1300G>A (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.1300G>C (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
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.1430A>G (p.Gln477Arg) rs730881044
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.1655G>A (p.Arg552Lys) 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.1686G>T (p.Glu562Asp) rs199778219
NM_005633.4(SOS1):c.1690G>A (p.Glu564Lys) rs1386900583
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.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.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.21C>T (p.Pro7=) rs727504845
NM_005633.4(SOS1):c.2207T>G (p.Ile736Arg) rs1553354396
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.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.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.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.2930A>G (p.Gln977Arg) rs2124479522
NM_005633.4(SOS1):c.3195T>C (p.Tyr1065=) rs1280224224
NM_005633.4(SOS1):c.3242A>G (p.Asn1081Ser) rs992722303
NM_005633.4(SOS1):c.3248dup (p.Arg1084fs) rs387906518
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.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.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.3724dup (p.Ser1242fs) rs1558454973
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.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.3956T>G (p.Met1319Arg) rs730881036
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.487A>G (p.Lys163Glu) rs886042206
NM_005633.4(SOS1):c.511-6_511-5del rs1671149258
NM_005633.4(SOS1):c.511-9_511-6del rs986512473
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.706T>C (p.Leu236=) rs1418372765
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.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.829C>A (p.Pro277Thr) rs1057517871
NM_005633.4(SOS1):c.87+6G>T rs777383378
NM_005633.4(SOS1):c.891G>A (p.Ser297=) rs1572841459
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
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_033310.3(KCNK4):c.515C>A (p.Ala172Glu) rs1565369746
NM_033310.3(KCNK4):c.730G>C (p.Ala244Pro) rs1189909394
REST, 2-BP DEL, 1901AG
SOS1, 4-BP INS, 3265TAAC

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.