ClinVar Miner

List of variants in gene SOS2 studied for Noonan syndrome and Noonan-related syndrome

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1126
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HGVS dbSNP gnomAD frequency
NM_006939.4(SOS2):c.213+37C>G rs1075537 0.88797
NM_006939.4(SOS2):c.2667+43G>A rs2064667 0.87379
NM_006939.4(SOS2):c.1197-32G>A rs4900992 0.87236
NM_006939.4(SOS2):c.2057+34T>C rs3736761 0.83210
NM_006939.4(SOS2):c.2057+38C>T rs3736760 0.83188
NM_006939.4(SOS2):c.2232C>T (p.Asn744=) rs2229869 0.60005
NM_006939.4(SOS2):c.88-6T>C rs12888783 0.31349
NM_006939.4(SOS2):c.3490-18A>C rs79858475 0.14981
NM_006939.4(SOS2):c.1448G>A (p.Ser483Asn) rs17122201 0.02622
NM_006939.4(SOS2):c.816T>C (p.Ser272=) rs35396088 0.02130
NM_006939.4(SOS2):c.2162-4C>A rs57179949 0.00961
NM_006939.4(SOS2):c.591A>G (p.Leu197=) rs113460230 0.00834
NM_006939.4(SOS2):c.3075+7C>T rs144391749 0.00743
NM_006939.4(SOS2):c.3489+19C>T rs149825446 0.00700
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502 0.00561
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_006939.4(SOS2):c.1344G>A (p.Leu448=) rs35530861 0.00350
NM_006939.4(SOS2):c.858+9A>G rs201701595 0.00101
NM_006939.4(SOS2):c.213+18A>T rs143888968 0.00096
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578 0.00083
NM_006939.4(SOS2):c.3614C>T (p.Pro1205Leu) rs113660113 0.00071
NM_006939.4(SOS2):c.3602A>G (p.His1201Arg) rs555945363 0.00061
NM_006939.4(SOS2):c.621C>T (p.Ile207=) rs147109760 0.00061
NM_006939.4(SOS2):c.700C>T (p.Leu234=) rs145848231 0.00053
NM_006939.4(SOS2):c.1071A>G (p.Gln357=) rs111961549 0.00046
NM_006939.4(SOS2):c.346-10C>G rs146395803 0.00046
NM_006939.4(SOS2):c.3250A>G (p.Thr1084Ala) rs150752193 0.00045
NM_006939.4(SOS2):c.2162-10C>T rs375702667 0.00042
NM_006939.4(SOS2):c.2317G>C (p.Asp773His) rs114711076 0.00041
NM_006939.4(SOS2):c.2959-20T>C rs375042033 0.00041
NM_006939.4(SOS2):c.3744G>T (p.Trp1248Cys) rs138133010 0.00041
NM_006939.4(SOS2):c.3830T>C (p.Leu1277Pro) rs146802994 0.00041
NM_006939.4(SOS2):c.969+20T>G rs559272877 0.00041
NM_006939.4(SOS2):c.1521G>T (p.Glu507Asp) rs141604342 0.00040
NM_006939.4(SOS2):c.3503C>A (p.Ser1168Tyr) rs143166880 0.00038
NM_006939.4(SOS2):c.2854G>A (p.Asp952Asn) rs200387871 0.00034
NM_006939.4(SOS2):c.2640A>G (p.Ser880=) rs146730136 0.00031
NM_006939.4(SOS2):c.3952C>T (p.Pro1318Ser) rs140995728 0.00029
NM_006939.4(SOS2):c.294A>G (p.Lys98=) rs149713664 0.00027
NM_006939.4(SOS2):c.315G>T (p.Leu105=) rs141575190 0.00027
NM_006939.4(SOS2):c.3075+19C>T rs200459376 0.00022
NM_006939.4(SOS2):c.2712A>G (p.Glu904=) rs143332839 0.00020
NM_006939.4(SOS2):c.3769A>G (p.Asn1257Asp) rs150393358 0.00020
NM_006939.4(SOS2):c.2010A>G (p.Ala670=) rs147081547 0.00019
NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser) rs142863840 0.00018
NM_006939.4(SOS2):c.3076-17A>T rs200184350 0.00018
NM_006939.4(SOS2):c.2385-3T>C rs374402293 0.00016
NM_006939.4(SOS2):c.599A>G (p.Tyr200Cys) rs148595463 0.00016
NM_006939.4(SOS2):c.2057+19T>A rs544924513 0.00015
NM_006939.4(SOS2):c.2385-12T>C rs372154027 0.00014
NM_006939.4(SOS2):c.2668-13T>C rs368749459 0.00014
NM_006939.4(SOS2):c.2786-6T>A rs552609367 0.00014
NM_006939.4(SOS2):c.195G>A (p.Arg65=) rs1803661 0.00013
NM_006939.4(SOS2):c.2328A>G (p.Thr776=) rs116162949 0.00013
NM_006939.4(SOS2):c.2625A>T (p.Ala875=) rs761442415 0.00013
NM_006939.4(SOS2):c.702G>A (p.Leu234=) rs200208472 0.00012
NM_006939.4(SOS2):c.1868G>A (p.Arg623His) rs138459515 0.00010
NM_006939.4(SOS2):c.3088A>G (p.Thr1030Ala) rs550680554 0.00010
NM_006939.4(SOS2):c.3289T>C (p.Ser1097Pro) rs141214900 0.00010
NM_006939.4(SOS2):c.1934+11T>C rs375487320 0.00009
NM_006939.4(SOS2):c.2520A>G (p.Ala840=) rs775682587 0.00009
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser) rs561495878 0.00009
NM_006939.4(SOS2):c.3066A>G (p.Pro1022=) rs201696354 0.00009
NM_006939.4(SOS2):c.3235A>G (p.Thr1079Ala) rs61755576 0.00009
NM_006939.4(SOS2):c.721G>A (p.Glu241Lys) rs148747022 0.00009
NM_006939.4(SOS2):c.88-10T>C rs777771034 0.00009
NM_006939.4(SOS2):c.1935-13C>G rs764835554 0.00008
NM_006939.4(SOS2):c.2120A>G (p.Glu707Gly) rs369462490 0.00008
NM_006939.4(SOS2):c.2154T>C (p.Ser718=) rs568511771 0.00008
NM_006939.4(SOS2):c.3729C>T (p.His1243=) rs761917783 0.00008
NM_006939.4(SOS2):c.510+14G>T rs897218126 0.00008
NM_006939.4(SOS2):c.2707G>A (p.Val903Met) rs745788940 0.00007
NM_006939.4(SOS2):c.2758A>G (p.Ile920Val) rs755783805 0.00007
NM_006939.4(SOS2):c.3337+20C>T rs759267073 0.00007
NM_006939.4(SOS2):c.627A>G (p.Glu209=) rs771839900 0.00007
NM_006939.4(SOS2):c.1198G>A (p.Asp400Asn) rs200368064 0.00006
NM_006939.4(SOS2):c.2605G>A (p.Val869Ile) rs373143128 0.00006
NM_006939.4(SOS2):c.2700C>T (p.Asp900=) rs369410641 0.00006
NM_006939.4(SOS2):c.2959-16A>G rs147830734 0.00006
NM_006939.4(SOS2):c.3868C>G (p.Pro1290Ala) rs761580972 0.00006
NM_006939.4(SOS2):c.504G>A (p.Ala168=) rs199898102 0.00006
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln) rs780580623 0.00006
NM_006939.4(SOS2):c.720C>T (p.Ile240=) rs373852615 0.00006
NM_006939.4(SOS2):c.121A>G (p.Asn41Asp) rs575983927 0.00005
NM_006939.4(SOS2):c.2058-16C>T rs577436233 0.00005
NM_006939.4(SOS2):c.244A>G (p.Ile82Val) rs545263131 0.00005
NM_006939.4(SOS2):c.2606T>C (p.Val869Ala) rs750095346 0.00005
NM_006939.4(SOS2):c.2955G>A (p.Met985Ile) rs367670036 0.00005
NM_006939.4(SOS2):c.3644C>G (p.Thr1215Ser) rs773877975 0.00005
NM_006939.4(SOS2):c.458G>A (p.Arg153Gln) rs779591050 0.00005
NM_006939.4(SOS2):c.1281C>T (p.Ile427=) rs8010578 0.00004
NM_006939.4(SOS2):c.147A>G (p.Glu49=) rs1030329651 0.00004
NM_006939.4(SOS2):c.1584T>C (p.Ser528=) rs374642561 0.00004
NM_006939.4(SOS2):c.1976T>C (p.Leu659Ser) rs1391029692 0.00004
NM_006939.4(SOS2):c.2162-16T>C rs764585497 0.00004
NM_006939.4(SOS2):c.2220A>C (p.Gln740His) rs576277421 0.00004
NM_006939.4(SOS2):c.2261G>A (p.Ser754Asn) rs181275468 0.00004
NM_006939.4(SOS2):c.2275A>G (p.Ile759Val) rs956839910 0.00004
NM_006939.4(SOS2):c.2388A>G (p.Lys796=) rs1884441136 0.00004
NM_006939.4(SOS2):c.257C>T (p.Ala86Val) rs146272145 0.00004
NM_006939.4(SOS2):c.2668-5T>C rs1045852656 0.00004
NM_006939.4(SOS2):c.2969A>G (p.Glu990Gly) rs761320331 0.00004
NM_006939.4(SOS2):c.3076C>T (p.Pro1026Ser) rs201874067 0.00004
NM_006939.4(SOS2):c.3335G>A (p.Cys1112Tyr) rs756103351 0.00004
NM_006939.4(SOS2):c.338C>T (p.Ser113Leu) rs751240491 0.00004
NM_006939.4(SOS2):c.3520G>A (p.Ala1174Thr) rs935249167 0.00004
NM_006939.4(SOS2):c.3553G>T (p.Val1185Leu) rs778368766 0.00004
NM_006939.4(SOS2):c.3673G>C (p.Glu1225Gln) rs769329817 0.00004
NM_006939.4(SOS2):c.3788C>G (p.Pro1263Arg) rs569343105 0.00004
NM_006939.4(SOS2):c.3902A>G (p.His1301Arg) rs759124324 0.00004
NM_006939.4(SOS2):c.3960C>T (p.Tyr1320=) rs766057658 0.00004
NM_006939.4(SOS2):c.532C>G (p.Gln178Glu) rs770603835 0.00004
NM_006939.4(SOS2):c.644G>A (p.Arg215Gln) rs538341032 0.00004
NM_006939.4(SOS2):c.811A>G (p.Ser271Gly) rs775494170 0.00004
NM_006939.4(SOS2):c.837C>T (p.Ser279=) rs542617984 0.00004
NM_006939.4(SOS2):c.970-19A>G rs369274700 0.00004
NM_006939.4(SOS2):c.1005T>C (p.Tyr335=) rs753698896 0.00003
NM_006939.4(SOS2):c.1069-10T>C rs201686942 0.00003
NM_006939.4(SOS2):c.1264G>A (p.Glu422Lys) rs375244948 0.00003
NM_006939.4(SOS2):c.1282G>A (p.Asp428Asn) rs146283711 0.00003
NM_006939.4(SOS2):c.1356T>C (p.Gly452=) rs746956553 0.00003
NM_006939.4(SOS2):c.1417C>T (p.His473Tyr) rs756637706 0.00003
NM_006939.4(SOS2):c.1852+18C>G rs768521644 0.00003
NM_006939.4(SOS2):c.2604C>T (p.Gly868=) rs765945171 0.00003
NM_006939.4(SOS2):c.260T>C (p.Ile87Thr) rs747274422 0.00003
NM_006939.4(SOS2):c.2668-4T>C rs763298498 0.00003
NM_006939.4(SOS2):c.2978A>T (p.Asn993Ile) rs776000121 0.00003
NM_006939.4(SOS2):c.3380-15C>G rs748112343 0.00003
NM_006939.4(SOS2):c.3490-14C>T rs200796041 0.00003
NM_006939.4(SOS2):c.3490-3G>T rs1399710421 0.00003
NM_006939.4(SOS2):c.3497T>C (p.Met1166Thr) rs764483791 0.00003
NM_006939.4(SOS2):c.3606T>C (p.Ser1202=) rs539432390 0.00003
NM_006939.4(SOS2):c.3814C>T (p.Arg1272Cys) rs1005498417 0.00003
NM_006939.4(SOS2):c.3981T>C (p.Asn1327=) rs527576404 0.00003
NM_006939.4(SOS2):c.540C>T (p.Asp180=) rs189555369 0.00003
NM_006939.4(SOS2):c.927C>T (p.Phe309=) rs1308740864 0.00003
NM_006939.4(SOS2):c.1156G>C (p.Asp386His) rs776909576 0.00002
NM_006939.4(SOS2):c.1208G>C (p.Cys403Ser) rs201821194 0.00002
NM_006939.4(SOS2):c.1256A>C (p.Lys419Thr) rs199998698 0.00002
NM_006939.4(SOS2):c.1392C>T (p.Gly464=) rs188355135 0.00002
NM_006939.4(SOS2):c.156T>A (p.Ile52=) rs1343609817 0.00002
NM_006939.4(SOS2):c.1669T>C (p.Leu557=) rs370600053 0.00002
NM_006939.4(SOS2):c.2049A>G (p.Val683=) rs748361433 0.00002
NM_006939.4(SOS2):c.2115C>T (p.Asp705=) rs761930547 0.00002
NM_006939.4(SOS2):c.2191A>G (p.Ile731Val) rs746664310 0.00002
NM_006939.4(SOS2):c.2315T>G (p.Phe772Cys) rs200715068 0.00002
NM_006939.4(SOS2):c.2347G>T (p.Ala783Ser) rs774498876 0.00002
NM_006939.4(SOS2):c.2350C>T (p.Arg784Cys) rs760520078 0.00002
NM_006939.4(SOS2):c.2384+5A>G rs376903120 0.00002
NM_006939.4(SOS2):c.2396C>T (p.Pro799Leu) rs773672997 0.00002
NM_006939.4(SOS2):c.2492T>G (p.Leu831Arg) rs553153992 0.00002
NM_006939.4(SOS2):c.2541G>A (p.Val847=) rs1884432722 0.00002
NM_006939.4(SOS2):c.2590A>T (p.Asn864Tyr) rs781119008 0.00002
NM_006939.4(SOS2):c.2786-5dup rs768715951 0.00002
NM_006939.4(SOS2):c.3338-4A>G rs777684425 0.00002
NM_006939.4(SOS2):c.3339C>T (p.Gly1113=) rs756164627 0.00002
NM_006939.4(SOS2):c.3380-16T>A rs1174938001 0.00002
NM_006939.4(SOS2):c.3403A>G (p.Ser1135Gly) rs375478974 0.00002
NM_006939.4(SOS2):c.3495T>C (p.Asn1165=) rs756887073 0.00002
NM_006939.4(SOS2):c.3523A>G (p.Ile1175Val) rs774571340 0.00002
NM_006939.4(SOS2):c.3547C>T (p.Pro1183Ser) rs139401491 0.00002
NM_006939.4(SOS2):c.3641A>T (p.Asp1214Val) rs772043913 0.00002
NM_006939.4(SOS2):c.364G>A (p.Val122Met) rs1208838203 0.00002
NM_006939.4(SOS2):c.3681T>G (p.Phe1227Leu) rs748607274 0.00002
NM_006939.4(SOS2):c.3735T>G (p.Asp1245Glu) rs752525400 0.00002
NM_006939.4(SOS2):c.3758G>C (p.Ser1253Thr) rs762593451 0.00002
NM_006939.4(SOS2):c.430T>C (p.Leu144=) rs746938099 0.00002
NM_006939.4(SOS2):c.714T>G (p.Ser238=) rs750665891 0.00002
NM_006939.4(SOS2):c.929A>G (p.Asn310Ser) rs746412601 0.00002
NM_006939.4(SOS2):c.1000C>T (p.Arg334Cys) rs1364027643 0.00001
NM_006939.4(SOS2):c.1009C>A (p.Leu337Ile) rs1204583343 0.00001
NM_006939.4(SOS2):c.1059G>A (p.Glu353=) rs1231657921 0.00001
NM_006939.4(SOS2):c.1068+20T>C rs766636506 0.00001
NM_006939.4(SOS2):c.1072T>C (p.Leu358=) rs751147588 0.00001
NM_006939.4(SOS2):c.1121C>A (p.Ala374Asp) rs1447501425 0.00001
NM_006939.4(SOS2):c.1146A>G (p.Gln382=) rs1178247373 0.00001
NM_006939.4(SOS2):c.1196+16T>A rs1885007067 0.00001
NM_006939.4(SOS2):c.1197-3T>C rs1252986580 0.00001
NM_006939.4(SOS2):c.1211C>T (p.Pro404Leu) rs201265921 0.00001
NM_006939.4(SOS2):c.1273A>G (p.Lys425Glu) rs372203654 0.00001
NM_006939.4(SOS2):c.1312T>C (p.Cys438Arg) rs368795570 0.00001
NM_006939.4(SOS2):c.1326C>T (p.Phe442=) rs150365706 0.00001
NM_006939.4(SOS2):c.1430G>A (p.Arg477Gln) rs139953230 0.00001
NM_006939.4(SOS2):c.1443C>T (p.Tyr481=) rs755043578 0.00001
NM_006939.4(SOS2):c.1446T>C (p.Ser482=) rs1468565433 0.00001
NM_006939.4(SOS2):c.1458C>T (p.Tyr486=) rs199651967 0.00001
NM_006939.4(SOS2):c.1557G>C (p.Glu519Asp) rs1884935096 0.00001
NM_006939.4(SOS2):c.1615C>T (p.Leu539Phe) rs781687371 0.00001
NM_006939.4(SOS2):c.1633C>T (p.Arg545Cys) rs148019428 0.00001
NM_006939.4(SOS2):c.1714G>A (p.Val572Ile) rs762733592 0.00001
NM_006939.4(SOS2):c.1716A>G (p.Val572=) rs772880193 0.00001
NM_006939.4(SOS2):c.1732A>G (p.Lys578Glu) rs748480687 0.00001
NM_006939.4(SOS2):c.1747A>G (p.Asn583Asp) rs1388854755 0.00001
NM_006939.4(SOS2):c.1839T>C (p.Tyr613=) rs780152724 0.00001
NM_006939.4(SOS2):c.1853-10G>A rs1033696008 0.00001
NM_006939.4(SOS2):c.1859A>G (p.Asn620Ser) rs772156276 0.00001
NM_006939.4(SOS2):c.1889G>A (p.Arg630His) rs754778456 0.00001
NM_006939.4(SOS2):c.189G>C (p.Gln63His) rs771269309 0.00001
NM_006939.4(SOS2):c.1911A>T (p.Glu637Asp) rs751563078 0.00001
NM_006939.4(SOS2):c.1934+13T>C rs764631414 0.00001
NM_006939.4(SOS2):c.1935-16T>C rs750298172 0.00001
NM_006939.4(SOS2):c.1973A>G (p.Lys658Arg) rs1317956888 0.00001
NM_006939.4(SOS2):c.1975T>C (p.Leu659=) rs775886849 0.00001
NM_006939.4(SOS2):c.1989A>G (p.Lys663=) rs1488158197 0.00001
NM_006939.4(SOS2):c.2057+15T>A rs1374367606 0.00001
NM_006939.4(SOS2):c.2068G>A (p.Val690Ile) rs766745289 0.00001
NM_006939.4(SOS2):c.214-12G>A rs763259138 0.00001
NM_006939.4(SOS2):c.2161+10A>G rs201629454 0.00001
NM_006939.4(SOS2):c.2162-11T>C rs369526899 0.00001
NM_006939.4(SOS2):c.2184A>C (p.Val728=) rs776046903 0.00001
NM_006939.4(SOS2):c.2245A>G (p.Asn749Asp) rs764992819 0.00001
NM_006939.4(SOS2):c.2246A>G (p.Asn749Ser) rs761689009 0.00001
NM_006939.4(SOS2):c.2253C>T (p.Thr751=) rs1050544302 0.00001
NM_006939.4(SOS2):c.2255T>A (p.Phe752Tyr) rs1392882497 0.00001
NM_006939.4(SOS2):c.2264C>T (p.Pro755Leu) rs868005783 0.00001
NM_006939.4(SOS2):c.2269C>T (p.Pro757Ser) rs775139330 0.00001
NM_006939.4(SOS2):c.2271A>G (p.Pro757=) rs1457757510 0.00001
NM_006939.4(SOS2):c.2290A>G (p.Ser764Gly) rs779464455 0.00001
NM_006939.4(SOS2):c.2385-6C>T rs147948407 0.00001
NM_006939.4(SOS2):c.2443A>G (p.Asn815Asp) rs886041958 0.00001
NM_006939.4(SOS2):c.2471G>A (p.Arg824His) rs1433825913 0.00001
NM_006939.4(SOS2):c.2602G>A (p.Gly868Ser) rs751419448 0.00001
NM_006939.4(SOS2):c.2643A>G (p.Val881=) rs1329137002 0.00001
NM_006939.4(SOS2):c.2646C>T (p.Tyr882=) rs761205651 0.00001
NM_006939.4(SOS2):c.2657A>G (p.His886Arg) rs775815870 0.00001
NM_006939.4(SOS2):c.2668-10A>G rs376672810 0.00001
NM_006939.4(SOS2):c.2722G>A (p.Asp908Asn) rs957376198 0.00001
NM_006939.4(SOS2):c.2730T>A (p.Phe910Leu) rs756711721 0.00001
NM_006939.4(SOS2):c.273A>G (p.Gln91=) rs757139228 0.00001
NM_006939.4(SOS2):c.2849G>A (p.Gly950Glu) rs765330931 0.00001
NM_006939.4(SOS2):c.2916T>C (p.Tyr972=) rs979918396 0.00001
NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys) rs772746106 0.00001
NM_006939.4(SOS2):c.2958+17C>T rs889359090 0.00001
NM_006939.4(SOS2):c.2985G>A (p.Met995Ile) rs746630297 0.00001
NM_006939.4(SOS2):c.3026A>G (p.Asn1009Ser) rs779413196 0.00001
NM_006939.4(SOS2):c.3042T>A (p.Ile1014=) rs1447097552 0.00001
NM_006939.4(SOS2):c.3056G>A (p.Cys1019Tyr) rs1883997609 0.00001
NM_006939.4(SOS2):c.3076-20A>T rs760423846 0.00001
NM_006939.4(SOS2):c.3076-3C>T rs1293540485 0.00001
NM_006939.4(SOS2):c.3079A>C (p.Arg1027=) rs1273822060 0.00001
NM_006939.4(SOS2):c.3097T>C (p.Leu1033=) rs1047180820 0.00001
NM_006939.4(SOS2):c.3138C>T (p.Gly1046=) rs755189158 0.00001
NM_006939.4(SOS2):c.3149G>T (p.Gly1050Val) rs1012247714 0.00001
NM_006939.4(SOS2):c.3153T>A (p.Thr1051=) rs1156744729 0.00001
NM_006939.4(SOS2):c.3174A>G (p.Pro1058=) rs763708050 0.00001
NM_006939.4(SOS2):c.3215C>T (p.Ala1072Val) rs1798276045 0.00001
NM_006939.4(SOS2):c.3244G>A (p.Ala1082Thr) rs1470270507 0.00001
NM_006939.4(SOS2):c.3266C>A (p.Pro1089Gln) rs1409054252 0.00001
NM_006939.4(SOS2):c.3267A>G (p.Pro1089=) rs748295112 0.00001
NM_006939.4(SOS2):c.3275C>T (p.Pro1092Leu) rs1442962879 0.00001
NM_006939.4(SOS2):c.3277C>T (p.Pro1093Ser) rs755233845 0.00001
NM_006939.4(SOS2):c.3279A>C (p.Pro1093=) rs780697283 0.00001
NM_006939.4(SOS2):c.3338-6C>G rs749149552 0.00001
NM_006939.4(SOS2):c.3356C>T (p.Ala1119Val) rs376113934 0.00001
NM_006939.4(SOS2):c.339G>A (p.Ser113=) rs543155109 0.00001
NM_006939.4(SOS2):c.3407T>C (p.Leu1136Ser) rs372874114 0.00001
NM_006939.4(SOS2):c.340T>C (p.Leu114=) rs1886467495 0.00001
NM_006939.4(SOS2):c.346-3C>T rs758131262 0.00001
NM_006939.4(SOS2):c.3502T>C (p.Ser1168Pro) rs756607027 0.00001
NM_006939.4(SOS2):c.3531G>A (p.Pro1177=) rs1248324702 0.00001
NM_006939.4(SOS2):c.3571G>C (p.Val1191Leu) rs934357386 0.00001
NM_006939.4(SOS2):c.3573T>G (p.Val1191=) rs756940411 0.00001
NM_006939.4(SOS2):c.357G>A (p.Gly119=) rs749639774 0.00001
NM_006939.4(SOS2):c.360C>T (p.Tyr120=) rs762044455 0.00001
NM_006939.4(SOS2):c.3615G>A (p.Pro1205=) rs750601074 0.00001
NM_006939.4(SOS2):c.3619C>T (p.Pro1207Ser) rs1883398374 0.00001
NM_006939.4(SOS2):c.362A>G (p.Lys121Arg) rs1456011298 0.00001
NM_006939.4(SOS2):c.3642T>C (p.Asp1214=) rs376033858 0.00001
NM_006939.4(SOS2):c.3698A>C (p.Asn1233Thr) rs201756168 0.00001
NM_006939.4(SOS2):c.3738A>C (p.Ser1246=) rs767257405 0.00001
NM_006939.4(SOS2):c.374A>T (p.His125Leu) rs777300218 0.00001
NM_006939.4(SOS2):c.3761C>G (p.Thr1254Arg) rs772587016 0.00001
NM_006939.4(SOS2):c.3774G>A (p.Ser1258=) rs747521589 0.00001
NM_006939.4(SOS2):c.3782C>G (p.Thr1261Ser) rs780772018 0.00001
NM_006939.4(SOS2):c.3793A>G (p.Thr1265Ala) rs1053118797 0.00001
NM_006939.4(SOS2):c.3815G>A (p.Arg1272His) rs200104745 0.00001
NM_006939.4(SOS2):c.3824A>G (p.Tyr1275Cys) rs371619971 0.00001
NM_006939.4(SOS2):c.3825T>C (p.Tyr1275=) rs1163199209 0.00001
NM_006939.4(SOS2):c.3845A>G (p.Asn1282Ser) rs376158218 0.00001
NM_006939.4(SOS2):c.384A>G (p.Leu128=) rs772264111 0.00001
NM_006939.4(SOS2):c.3944C>T (p.Ser1315Leu) rs865922330 0.00001
NM_006939.4(SOS2):c.3945G>A (p.Ser1315=) rs143427064 0.00001
NM_006939.4(SOS2):c.3954A>G (p.Pro1318=) rs751408063 0.00001
NM_006939.4(SOS2):c.396T>C (p.Ala132=) rs774402309 0.00001
NM_006939.4(SOS2):c.3984A>G (p.Ala1328=) rs776266602 0.00001
NM_006939.4(SOS2):c.3987A>C (p.Glu1329Asp) rs146527239 0.00001
NM_006939.4(SOS2):c.533A>C (p.Gln178Pro) rs1273376869 0.00001
NM_006939.4(SOS2):c.575G>C (p.Ser192Thr) rs1886005182 0.00001
NM_006939.4(SOS2):c.592A>T (p.Asn198Tyr) rs753283972 0.00001
NM_006939.4(SOS2):c.600T>C (p.Tyr200=) rs766470992 0.00001
NM_006939.4(SOS2):c.643C>T (p.Arg215Trp) rs745812984 0.00001
NM_006939.4(SOS2):c.680C>G (p.Ala227Gly) rs756565236 0.00001
NM_006939.4(SOS2):c.753T>C (p.His251=) rs1283549797 0.00001
NM_006939.4(SOS2):c.780G>T (p.Leu260Phe) rs1348457314 0.00001
NM_006939.4(SOS2):c.804T>C (p.Thr268=) rs750437794 0.00001
NM_006939.4(SOS2):c.813C>T (p.Ser271=) rs371598827 0.00001
NM_006939.4(SOS2):c.839G>C (p.Cys280Ser) rs530007285 0.00001
NM_006939.4(SOS2):c.858+7T>C rs560994504 0.00001
NM_006939.4(SOS2):c.859-10A>T rs761341096 0.00001
NM_006939.4(SOS2):c.88-13C>A rs749789629 0.00001
NM_006939.4(SOS2):c.88-17A>G rs776823815 0.00001
NM_006939.4(SOS2):c.88-5T>A rs767732779 0.00001
NM_006939.4(SOS2):c.947C>G (p.Pro316Arg) rs1885702697 0.00001
NM_006939.4(SOS2):c.954T>A (p.Val318=) rs1376460738 0.00001
NM_006939.4(SOS2):c.958C>T (p.Leu320=) rs777858898 0.00001
NC_000014.8:g.(?_50585062)_(50585591_?)del
NC_000014.8:g.(?_50596659)_(50606797_?)dup
NC_000014.8:g.(?_50626129)_(50628347_?)del
NC_000014.8:g.(?_50649161)_(50655438_?)dup
NC_000014.8:g.(?_50655195)_(50655438_?)dup
NC_000014.9:g.(?_50188487)_(50204419_?)dup
NM_006939.4(SOS2):c.*234G>A rs2139461520
NM_006939.4(SOS2):c.1001G>A (p.Arg334His)
NM_006939.4(SOS2):c.1009C>T (p.Leu337Phe) rs1204583343
NM_006939.4(SOS2):c.1015C>T (p.Arg339Cys)
NM_006939.4(SOS2):c.1016G>A (p.Arg339His)
NM_006939.4(SOS2):c.1017T>A (p.Arg339=)
NM_006939.4(SOS2):c.1017T>C (p.Arg339=)
NM_006939.4(SOS2):c.1022T>C (p.Met341Thr)
NM_006939.4(SOS2):c.1024C>A (p.Leu342Met)
NM_006939.4(SOS2):c.1024C>T (p.Leu342=) rs1033098930
NM_006939.4(SOS2):c.1029G>A (p.Val343=)
NM_006939.4(SOS2):c.1042T>G (p.Cys348Gly) rs1885462935
NM_006939.4(SOS2):c.1043G>C (p.Cys348Ser)
NM_006939.4(SOS2):c.1049A>G (p.His350Arg)
NM_006939.4(SOS2):c.1060T>G (p.Leu354Val)
NM_006939.4(SOS2):c.1065A>G (p.Leu355=)
NM_006939.4(SOS2):c.1068+11A>G
NM_006939.4(SOS2):c.1068+15C>A
NM_006939.4(SOS2):c.1069-14_1069-13del
NM_006939.4(SOS2):c.1069-16_1069-13del
NM_006939.4(SOS2):c.1069-4T>C
NM_006939.4(SOS2):c.1069-6dup rs756206186
NM_006939.4(SOS2):c.106C>G (p.Pro36Ala)
NM_006939.4(SOS2):c.1080A>T (p.Ala360=)
NM_006939.4(SOS2):c.1084A>G (p.Ser362Gly)
NM_006939.4(SOS2):c.110C>T (p.Thr37Ile)
NM_006939.4(SOS2):c.1119A>G (p.Gln373=)
NM_006939.4(SOS2):c.1125T>C (p.Ile375=) rs1885009611
NM_006939.4(SOS2):c.1126A>T (p.Thr376Ser) rs1594982548
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_006939.4(SOS2):c.1127C>T (p.Thr376Ile)
NM_006939.4(SOS2):c.1141C>G (p.Leu381Val)
NM_006939.4(SOS2):c.1153A>G (p.Met385Val)
NM_006939.4(SOS2):c.1158C>T (p.Asp386=) rs942106224
NM_006939.4(SOS2):c.1159C>A (p.Arg387=)
NM_006939.4(SOS2):c.115T>A (p.Ser39Thr) rs2139796314
NM_006939.4(SOS2):c.1160G>A (p.Arg387Gln)
NM_006939.4(SOS2):c.1170G>A (p.Lys390=)
NM_006939.4(SOS2):c.1173G>A (p.Gln391=)
NM_006939.4(SOS2):c.1173G>T (p.Gln391His)
NM_006939.4(SOS2):c.1175A>G (p.Tyr392Cys) rs1085307558
NM_006939.4(SOS2):c.1176T>C (p.Tyr392=) rs1555370242
NM_006939.4(SOS2):c.1181C>T (p.Pro394Leu) rs144332746
NM_006939.4(SOS2):c.1183A>T (p.Arg395Ter)
NM_006939.4(SOS2):c.1185A>C (p.Arg395Ser)
NM_006939.4(SOS2):c.1189C>G (p.Arg397Gly) rs777771444
NM_006939.4(SOS2):c.1195G>C (p.Gly399Arg)
NM_006939.4(SOS2):c.1196+5T>C
NM_006939.4(SOS2):c.1196+7C>T
NM_006939.4(SOS2):c.1197-11_1197-8del
NM_006939.4(SOS2):c.1197-20A>G
NM_006939.4(SOS2):c.1197-5del
NM_006939.4(SOS2):c.1197-8T>G rs2139630303
NM_006939.4(SOS2):c.1205T>C (p.Val402Ala)
NM_006939.4(SOS2):c.1209C>A (p.Cys403Ter)
NM_006939.4(SOS2):c.1210C>G (p.Pro404Ala)
NM_006939.4(SOS2):c.1217A>G (p.Tyr406Cys)
NM_006939.4(SOS2):c.1221T>C (p.Ser407=)
NM_006939.4(SOS2):c.1223A>T (p.His408Leu) rs2139630118
NM_006939.4(SOS2):c.1227A>G (p.Gln409=)
NM_006939.4(SOS2):c.122A>G (p.Asn41Ser)
NM_006939.4(SOS2):c.1230A>G (p.Leu410=)
NM_006939.4(SOS2):c.1230AAG[1] (p.Arg411del)
NM_006939.4(SOS2):c.1235G>T (p.Ser412Ile)
NM_006939.4(SOS2):c.1242C>A (p.His414Gln)
NM_006939.4(SOS2):c.1242C>G (p.His414Gln)
NM_006939.4(SOS2):c.1242C>T (p.His414=)
NM_006939.4(SOS2):c.1243C>T (p.Leu415=)
NM_006939.4(SOS2):c.1244T>G (p.Leu415Arg)
NM_006939.4(SOS2):c.1245_1248del (p.Ala416fs) rs2139630042
NM_006939.4(SOS2):c.1249A>T (p.Ile417Phe)
NM_006939.4(SOS2):c.1251C>G (p.Ile417Met)
NM_006939.4(SOS2):c.1256A>G (p.Lys419Arg)
NM_006939.4(SOS2):c.1259T>C (p.Met420Thr)
NM_006939.4(SOS2):c.1263T>C (p.Asn421=) rs369267864
NM_006939.4(SOS2):c.1265A>G (p.Glu422Gly)
NM_006939.4(SOS2):c.1266A>C (p.Glu422Asp) rs755550719
NM_006939.4(SOS2):c.1285G>A (p.Gly429Arg)
NM_006939.4(SOS2):c.1291G>A (p.Glu431Lys)
NM_006939.4(SOS2):c.129G>A (p.Glu43=)
NM_006939.4(SOS2):c.1300G>C (p.Asp434His) rs2139629861
NM_006939.4(SOS2):c.1320T>A (p.Asn440Lys) rs1884941722
NM_006939.4(SOS2):c.1323A>G (p.Glu441=)
NM_006939.4(SOS2):c.1325T>G (p.Phe442Cys)
NM_006939.4(SOS2):c.1326C>A (p.Phe442Leu)
NM_006939.4(SOS2):c.1327A>C (p.Ile443Leu)
NM_006939.4(SOS2):c.1331T>A (p.Met444Lys)
NM_006939.4(SOS2):c.1331T>C (p.Met444Thr) rs1884941577
NM_006939.4(SOS2):c.1337G>T (p.Gly446Val)
NM_006939.4(SOS2):c.1339C>A (p.Pro447Thr)
NM_006939.4(SOS2):c.133_136del (p.Leu45fs) rs764257310
NM_006939.4(SOS2):c.1341A>G (p.Pro447=) rs761540894
NM_006939.4(SOS2):c.1345A>G (p.Thr449Ala)
NM_006939.4(SOS2):c.1353C>T (p.Ile451=)
NM_006939.4(SOS2):c.1362A>G (p.Lys454=)
NM_006939.4(SOS2):c.1370G>A (p.Arg457Gln)
NM_006939.4(SOS2):c.1371G>T (p.Arg457=)
NM_006939.4(SOS2):c.1375A>G (p.Ile459Val) rs886268693
NM_006939.4(SOS2):c.137A>C (p.Tyr46Ser) rs1162838729
NM_006939.4(SOS2):c.137A>G (p.Tyr46Cys)
NM_006939.4(SOS2):c.1393T>G (p.Leu465Val)
NM_006939.4(SOS2):c.1403G>T (p.Ser468Ile)
NM_006939.4(SOS2):c.1411C>T (p.Pro471Ser) rs1353990634
NM_006939.4(SOS2):c.1412C>G (p.Pro471Arg)
NM_006939.4(SOS2):c.141T>C (p.Tyr47=)
NM_006939.4(SOS2):c.1422C>T (p.Gly474=)
NM_006939.4(SOS2):c.1427C>T (p.Thr476Ile) rs2139629330
NM_006939.4(SOS2):c.1429C>T (p.Arg477Trp) rs1555370121
NM_006939.4(SOS2):c.1445G>A (p.Ser482Asn)
NM_006939.4(SOS2):c.1445G>T (p.Ser482Ile) rs1195086721
NM_006939.4(SOS2):c.1455A>G (p.Glu485=)
NM_006939.4(SOS2):c.1463T>G (p.Leu488Ter)
NM_006939.4(SOS2):c.1464A>G (p.Leu488=)
NM_006939.4(SOS2):c.1474T>C (p.Phe492Leu)
NM_006939.4(SOS2):c.1480A>T (p.Met494Leu) rs1884937684
NM_006939.4(SOS2):c.1488A>G (p.Lys496=)
NM_006939.4(SOS2):c.1491A>T (p.Ile497=) rs2139629111
NM_006939.4(SOS2):c.1492C>G (p.Gln498Glu)
NM_006939.4(SOS2):c.1499G>C (p.Cys500Ser)
NM_006939.4(SOS2):c.1508A>T (p.Glu503Val)
NM_006939.4(SOS2):c.1515T>C (p.Thr505=) rs1345455743
NM_006939.4(SOS2):c.1516T>C (p.Cys506Arg)
NM_006939.4(SOS2):c.1517G>C (p.Cys506Ser)
NM_006939.4(SOS2):c.1532C>G (p.Ala511Gly)
NM_006939.4(SOS2):c.1537G>C (p.Glu513Gln)
NM_006939.4(SOS2):c.1540T>C (p.Leu514=)
NM_006939.4(SOS2):c.1544T>C (p.Val515Ala) rs2139628968
NM_006939.4(SOS2):c.1550A>C (p.Lys517Thr) rs367970301
NM_006939.4(SOS2):c.1560C>G (p.Asn520Lys)
NM_006939.4(SOS2):c.1564A>G (p.Ile522Val)
NM_006939.4(SOS2):c.1564ATA[1] (p.Ile523del)
NM_006939.4(SOS2):c.1567A>G (p.Ile523Val) rs1884934797
NM_006939.4(SOS2):c.1585G>C (p.Ala529Pro) rs2139628740
NM_006939.4(SOS2):c.1586C>T (p.Ala529Val)
NM_006939.4(SOS2):c.1592A>G (p.Glu531Gly) rs778331065
NM_006939.4(SOS2):c.1593A>G (p.Glu531=) rs1414010933
NM_006939.4(SOS2):c.1599C>A (p.Asn533Lys) rs1484591662
NM_006939.4(SOS2):c.1606A>G (p.Met536Val)
NM_006939.4(SOS2):c.1609G>A (p.Ala537Thr)
NM_006939.4(SOS2):c.1609G>T (p.Ala537Ser) rs748632850
NM_006939.4(SOS2):c.1610C>T (p.Ala537Val)
NM_006939.4(SOS2):c.1612G>A (p.Ala538Thr)
NM_006939.4(SOS2):c.1614C>A (p.Ala538=)
NM_006939.4(SOS2):c.1634G>A (p.Arg545His)
NM_006939.4(SOS2):c.1642C>A (p.Leu548Ile)
NM_006939.4(SOS2):c.1642C>T (p.Leu548=)
NM_006939.4(SOS2):c.1648C>A (p.Arg550=) rs1344304906
NM_006939.4(SOS2):c.1648C>G (p.Arg550Gly) rs1344304906
NM_006939.4(SOS2):c.1649G>A (p.Arg550Gln)
NM_006939.4(SOS2):c.164T>C (p.Leu55Pro) rs2139796125
NM_006939.4(SOS2):c.1661C>T (p.Ser554Leu) rs763829729
NM_006939.4(SOS2):c.1662A>G (p.Ser554=)
NM_006939.4(SOS2):c.166C>T (p.Leu56Phe)
NM_006939.4(SOS2):c.1682A>T (p.Asn561Ile)
NM_006939.4(SOS2):c.1698A>T (p.Arg566Ser)
NM_006939.4(SOS2):c.1705A>G (p.Ser569Gly)
NM_006939.4(SOS2):c.1708C>T (p.Pro570Ser)
NM_006939.4(SOS2):c.1711G>A (p.Glu571Lys)
NM_006939.4(SOS2):c.1721G>A (p.Arg574His)
NM_006939.4(SOS2):c.1726G>A (p.Val576Ile)
NM_006939.4(SOS2):c.1727T>G (p.Val576Gly)
NM_006939.4(SOS2):c.172A>G (p.Lys58Glu) rs2139796115
NM_006939.4(SOS2):c.1734del (p.Asp579fs) rs2139628200
NM_006939.4(SOS2):c.1740_1741del (p.Glu581fs)
NM_006939.4(SOS2):c.1766A>G (p.Asn589Ser)
NM_006939.4(SOS2):c.1767C>T (p.Asn589=) rs1427742827
NM_006939.4(SOS2):c.1775G>C (p.Ser592Thr)
NM_006939.4(SOS2):c.1781G>T (p.Ser594Ile)
NM_006939.4(SOS2):c.1786A>G (p.Ile596Val)
NM_006939.4(SOS2):c.1788C>G (p.Ile596Met) rs2139627990
NM_006939.4(SOS2):c.1810G>T (p.Val604Leu) rs769210427
NM_006939.4(SOS2):c.1811T>C (p.Val604Ala)
NM_006939.4(SOS2):c.1815G>T (p.Val605=) rs966907268
NM_006939.4(SOS2):c.181A>G (p.Met61Val) rs774761716
NM_006939.4(SOS2):c.1832T>C (p.Leu611Ser)
NM_006939.4(SOS2):c.1833A>G (p.Leu611=)
NM_006939.4(SOS2):c.1838A>G (p.Tyr613Cys)
NM_006939.4(SOS2):c.1852+11C>T
NM_006939.4(SOS2):c.1852+15T>C
NM_006939.4(SOS2):c.1852+2T>C
NM_006939.4(SOS2):c.1852+3A>G rs758436817
NM_006939.4(SOS2):c.1852+4T>C
NM_006939.4(SOS2):c.1852+6T>C
NM_006939.4(SOS2):c.185C>T (p.Ala62Val) rs1886594687
NM_006939.4(SOS2):c.1861T>G (p.Phe621Val) rs1555370029
NM_006939.4(SOS2):c.1867C>T (p.Arg623Cys)
NM_006939.4(SOS2):c.1884A>C (p.Thr628=) rs781172817
NM_006939.4(SOS2):c.1884A>G (p.Thr628=)
NM_006939.4(SOS2):c.1888C>T (p.Arg630Cys)
NM_006939.4(SOS2):c.1900A>G (p.Lys634Glu) rs1884893175
NM_006939.4(SOS2):c.1915C>A (p.Leu639Met)
NM_006939.4(SOS2):c.1932A>G (p.Glu644=)
NM_006939.4(SOS2):c.1934+11T>G rs375487320
NM_006939.4(SOS2):c.1934+19del
NM_006939.4(SOS2):c.1934+1G>A
NM_006939.4(SOS2):c.1934+6A>C
NM_006939.4(SOS2):c.1934G>T (p.Arg645Leu)
NM_006939.4(SOS2):c.1935-19C>A
NM_006939.4(SOS2):c.1935-20C>G rs376985307
NM_006939.4(SOS2):c.1935-6T>C
NM_006939.4(SOS2):c.1939G>A (p.Glu647Lys)
NM_006939.4(SOS2):c.1952C>G (p.Pro651Arg)
NM_006939.4(SOS2):c.1957C>T (p.Pro653Ser)
NM_006939.4(SOS2):c.1961C>T (p.Thr654Ile)
NM_006939.4(SOS2):c.1965C>T (p.Asp655=)
NM_006939.4(SOS2):c.1966G>T (p.Ala656Ser)
NM_006939.4(SOS2):c.1981A>G (p.Ile661Val) rs1460978115
NM_006939.4(SOS2):c.1983A>T (p.Ile661=)
NM_006939.4(SOS2):c.2000C>T (p.Pro667Leu)
NM_006939.4(SOS2):c.2002A>T (p.Ile668Phe)
NM_006939.4(SOS2):c.2005A>G (p.Ser669Gly)
NM_006939.4(SOS2):c.2007T>C (p.Ser669=) rs577622341
NM_006939.4(SOS2):c.2021G>A (p.Arg674Lys) rs371205081
NM_006939.4(SOS2):c.2022A>G (p.Arg674=)
NM_006939.4(SOS2):c.2026C>T (p.Arg676Cys)
NM_006939.4(SOS2):c.2027G>T (p.Arg676Leu)
NM_006939.4(SOS2):c.2034A>G (p.Glu678=)
NM_006939.4(SOS2):c.2039T>C (p.Val680Ala)
NM_006939.4(SOS2):c.2045C>T (p.Pro682Leu)
NM_006939.4(SOS2):c.2046A>G (p.Pro682=) rs2139618438
NM_006939.4(SOS2):c.2047G>A (p.Val683Ile) rs1884843220
NM_006939.4(SOS2):c.204A>G (p.Gln68=)
NM_006939.4(SOS2):c.2057+12A>G
NM_006939.4(SOS2):c.2057+19_2057+20del rs111970905
NM_006939.4(SOS2):c.2057+19_2057+20insA
NM_006939.4(SOS2):c.2057+20T>G
NM_006939.4(SOS2):c.2057+20_2057+22del
NM_006939.4(SOS2):c.2057+20del rs111970905
NM_006939.4(SOS2):c.2058-10A>G rs1303671107
NM_006939.4(SOS2):c.2058-29_2058-10dup
NM_006939.4(SOS2):c.2058-4T>A
NM_006939.4(SOS2):c.205G>A (p.Asp69Asn)
NM_006939.4(SOS2):c.2076G>A (p.Arg692=)
NM_006939.4(SOS2):c.2094T>C (p.His698=)
NM_006939.4(SOS2):c.2104T>C (p.Phe702Leu) rs2139604459
NM_006939.4(SOS2):c.2106T>C (p.Phe702=)
NM_006939.4(SOS2):c.2109A>G (p.Glu703=)
NM_006939.4(SOS2):c.2113G>T (p.Asp705Tyr) rs1057518079
NM_006939.4(SOS2):c.2118G>A (p.Leu706=) rs2139604401
NM_006939.4(SOS2):c.2128G>C (p.Glu710Gln) rs768829374
NM_006939.4(SOS2):c.213+10A>G rs1785709173
NM_006939.4(SOS2):c.213+18A>C rs143888968
NM_006939.4(SOS2):c.213+20T>G
NM_006939.4(SOS2):c.213+7A>G
NM_006939.4(SOS2):c.2136A>G (p.Leu712=)
NM_006939.4(SOS2):c.2137G>C (p.Glu713Gln) rs534384816
NM_006939.4(SOS2):c.214-20G>A
NM_006939.4(SOS2):c.214-20G>T
NM_006939.4(SOS2):c.214-9A>G
NM_006939.4(SOS2):c.214-9A>T
NM_006939.4(SOS2):c.2148T>G (p.Ile716Met)
NM_006939.4(SOS2):c.2155G>A (p.Val719Ile)
NM_006939.4(SOS2):c.2161+16G>T
NM_006939.4(SOS2):c.2161+16del rs780462582
NM_006939.4(SOS2):c.2161+19del rs1555369697
NM_006939.4(SOS2):c.2161+7_2161+11del
NM_006939.4(SOS2):c.2162-10C>G
NM_006939.4(SOS2):c.2162-12T>C
NM_006939.4(SOS2):c.2162-15G>A
NM_006939.4(SOS2):c.2162-18T>C
NM_006939.4(SOS2):c.2162-6T>A
NM_006939.4(SOS2):c.2166A>T (p.Lys722Asn) rs769787486
NM_006939.4(SOS2):c.2168C>T (p.Ala723Val) rs1566827698
NM_006939.4(SOS2):c.2180G>T (p.Trp727Leu)
NM_006939.4(SOS2):c.2182G>A (p.Val728Ile) rs2139595594
NM_006939.4(SOS2):c.2190A>C (p.Ser730=)
NM_006939.4(SOS2):c.2193T>G (p.Ile731Met)
NM_006939.4(SOS2):c.2203A>G (p.Ile735Val)
NM_006939.4(SOS2):c.220G>A (p.Val74Ile) rs1886470934
NM_006939.4(SOS2):c.2214G>A (p.Lys738=)
NM_006939.4(SOS2):c.2217G>A (p.Lys739=) rs186110427
NM_006939.4(SOS2):c.2217G>T (p.Lys739Asn) rs186110427
NM_006939.4(SOS2):c.2220A>T (p.Gln740His) rs576277421
NM_006939.4(SOS2):c.2221G>A (p.Ala741Thr) rs1594973893
NM_006939.4(SOS2):c.2231_2232inv (p.Asn744Ser)
NM_006939.4(SOS2):c.2236G>A (p.Val746Ile)
NM_006939.4(SOS2):c.223C>G (p.Gln75Glu)
NM_006939.4(SOS2):c.2240G>A (p.Ser747Asn)
NM_006939.4(SOS2):c.2241C>T (p.Ser747=)
NM_006939.4(SOS2):c.2243A>G (p.His748Arg)
NM_006939.4(SOS2):c.2249T>G (p.Ile750Ser)
NM_006939.4(SOS2):c.224A>G (p.Gln75Arg) rs2139783861
NM_006939.4(SOS2):c.2262T>C (p.Ser754=)
NM_006939.4(SOS2):c.2268T>G (p.Pro756=) rs1555369534
NM_006939.4(SOS2):c.2272C>G (p.Pro758Ala)
NM_006939.4(SOS2):c.2276T>C (p.Ile759Thr)
NM_006939.4(SOS2):c.2281T>C (p.Trp761Arg)
NM_006939.4(SOS2):c.2284C>A (p.His762Asn)
NM_006939.4(SOS2):c.2290A>C (p.Ser764Arg)
NM_006939.4(SOS2):c.2304G>T (p.Gln768His) rs778281839
NM_006939.4(SOS2):c.2307T>A (p.Phe769Leu)
NM_006939.4(SOS2):c.230C>G (p.Thr77Ser) rs565261873
NM_006939.4(SOS2):c.2312_2313insTGTCCT (p.Thr771_Phe772insValLeu)
NM_006939.4(SOS2):c.2313A>G (p.Thr771=)
NM_006939.4(SOS2):c.2316T>G (p.Phe772Leu) rs2139594970
NM_006939.4(SOS2):c.2318A>C (p.Asp773Ala) rs1884612400
NM_006939.4(SOS2):c.2320C>G (p.Leu774Val)
NM_006939.4(SOS2):c.2322C>G (p.Leu774=) rs781235783
NM_006939.4(SOS2):c.2328A>T (p.Thr776=) rs116162949
NM_006939.4(SOS2):c.2329C>T (p.Leu777Phe) rs151074097
NM_006939.4(SOS2):c.2337A>G (p.Pro779=)
NM_006939.4(SOS2):c.2345T>C (p.Ile782Thr)
NM_006939.4(SOS2):c.2347G>C (p.Ala783Pro)
NM_006939.4(SOS2):c.2348C>T (p.Ala783Val)
NM_006939.4(SOS2):c.2351G>A (p.Arg784His)
NM_006939.4(SOS2):c.2354A>G (p.Gln785Arg)
NM_006939.4(SOS2):c.2356C>T (p.Leu786=) rs1884611451
NM_006939.4(SOS2):c.2359A>C (p.Thr787Pro)
NM_006939.4(SOS2):c.2361A>G (p.Thr787=)
NM_006939.4(SOS2):c.2362C>G (p.Leu788Val) rs771681478
NM_006939.4(SOS2):c.2369A>G (p.Glu790Gly)
NM_006939.4(SOS2):c.237T>A (p.Pro79=)
NM_006939.4(SOS2):c.2384+10_2384+13del
NM_006939.4(SOS2):c.2384+16_2384+21del rs750693332
NM_006939.4(SOS2):c.2384+18A>G
NM_006939.4(SOS2):c.2384+20G>T
NM_006939.4(SOS2):c.2385-19C>T
NM_006939.4(SOS2):c.2385-4A>G
NM_006939.4(SOS2):c.2394A>G (p.Gln798=)
NM_006939.4(SOS2):c.2397G>A (p.Pro799=) rs770022419
NM_006939.4(SOS2):c.2406T>C (p.Leu802=)
NM_006939.4(SOS2):c.2413A>G (p.Ser805Gly)
NM_006939.4(SOS2):c.2414G>A (p.Ser805Asn)
NM_006939.4(SOS2):c.2435A>G (p.Lys812Arg)
NM_006939.4(SOS2):c.2442A>C (p.Ile814=)
NM_006939.4(SOS2):c.2453A>G (p.Asn818Ser)
NM_006939.4(SOS2):c.2466G>A (p.Met822Ile)
NM_006939.4(SOS2):c.2472C>A (p.Arg824=)
NM_006939.4(SOS2):c.2485C>T (p.Leu829Phe)
NM_006939.4(SOS2):c.2493C>T (p.Leu831=)
NM_006939.4(SOS2):c.2504+15A>T
NM_006939.4(SOS2):c.2505-11G>A
NM_006939.4(SOS2):c.2505-8G>A
NM_006939.4(SOS2):c.2505A>G (p.Lys835=)
NM_006939.4(SOS2):c.2509A>G (p.Ile837Val) rs1469543967
NM_006939.4(SOS2):c.2510T>C (p.Ile837Thr)
NM_006939.4(SOS2):c.252A>G (p.Lys84=)
NM_006939.4(SOS2):c.2531A>C (p.Glu844Ala)
NM_006939.4(SOS2):c.2539G>T (p.Val847Leu)
NM_006939.4(SOS2):c.2540T>G (p.Val847Gly) rs2139576871
NM_006939.4(SOS2):c.2551A>C (p.Ser851Arg)
NM_006939.4(SOS2):c.2561T>C (p.Ile854Thr)
NM_006939.4(SOS2):c.2562A>G (p.Ile854Met)
NM_006939.4(SOS2):c.2569C>G (p.Leu857Val)
NM_006939.4(SOS2):c.2572C>A (p.Gln858Lys)
NM_006939.4(SOS2):c.2574A>G (p.Gln858=)
NM_006939.4(SOS2):c.2585A>G (p.Asp862Gly)
NM_006939.4(SOS2):c.2586T>C (p.Asp862=) rs1594969928
NM_006939.4(SOS2):c.263C>T (p.Ala88Val)
NM_006939.4(SOS2):c.2654A>G (p.Asp885Gly)
NM_006939.4(SOS2):c.2661C>G (p.Thr887=)
NM_006939.4(SOS2):c.2667+14T>C
NM_006939.4(SOS2):c.2667+16A>G
NM_006939.4(SOS2):c.2667+20T>G
NM_006939.4(SOS2):c.2667G>T (p.Glu889Asp)
NM_006939.4(SOS2):c.2668-11_2668-9dup
NM_006939.4(SOS2):c.2668-18A>G
NM_006939.4(SOS2):c.2668-19A>G
NM_006939.4(SOS2):c.2668-19A>T
NM_006939.4(SOS2):c.2668-20C>G
NM_006939.4(SOS2):c.2668-20C>T
NM_006939.4(SOS2):c.2668-4del rs2139556831
NM_006939.4(SOS2):c.2668G>A (p.Ala890Thr)
NM_006939.4(SOS2):c.2671C>T (p.Leu891=) rs2139556792
NM_006939.4(SOS2):c.2672T>A (p.Leu891Gln)
NM_006939.4(SOS2):c.2701G>A (p.Glu901Lys) rs556373963
NM_006939.4(SOS2):c.2707G>C (p.Val903Leu)
NM_006939.4(SOS2):c.2711A>G (p.Glu904Gly)
NM_006939.4(SOS2):c.2723A>G (p.Asp908Gly)
NM_006939.4(SOS2):c.272A>C (p.Gln91Pro)
NM_006939.4(SOS2):c.2735A>G (p.Lys912Arg)
NM_006939.4(SOS2):c.2740C>T (p.Leu914=) rs1363925093
NM_006939.4(SOS2):c.2741T>A (p.Leu914Gln)
NM_006939.4(SOS2):c.2754_2758del (p.Lys918fs)
NM_006939.4(SOS2):c.2756C>T (p.Ser919Leu)
NM_006939.4(SOS2):c.2762A>G (p.Asn921Ser)
NM_006939.4(SOS2):c.2766A>T (p.Pro922=)
NM_006939.4(SOS2):c.2774T>C (p.Val925Ala)
NM_006939.4(SOS2):c.2784T>A (p.Phe928Leu)
NM_006939.4(SOS2):c.2785+13A>T
NM_006939.4(SOS2):c.2785+14T>C
NM_006939.4(SOS2):c.2785+18_2785+19delinsTT
NM_006939.4(SOS2):c.2785+9C>G rs2139556419
NM_006939.4(SOS2):c.2786-13T>C
NM_006939.4(SOS2):c.2786-16_2786-15insG
NM_006939.4(SOS2):c.2786-18_2786-17dup rs201957103
NM_006939.4(SOS2):c.2786-18dup rs201957103
NM_006939.4(SOS2):c.2786-1G>A
NM_006939.4(SOS2):c.2786-6del rs201957103
NM_006939.4(SOS2):c.280A>G (p.Ile94Val)
NM_006939.4(SOS2):c.2814C>T (p.Thr938=)
NM_006939.4(SOS2):c.2815G>A (p.Glu939Lys)
NM_006939.4(SOS2):c.2838A>T (p.Leu946Phe)
NM_006939.4(SOS2):c.2853A>G (p.Lys951=)
NM_006939.4(SOS2):c.2854G>T (p.Asp952Tyr)
NM_006939.4(SOS2):c.2857T>A (p.Leu953Ile)
NM_006939.4(SOS2):c.2864A>G (p.Asn955Ser)
NM_006939.4(SOS2):c.2880G>A (p.Arg960=)
NM_006939.4(SOS2):c.288A>G (p.Lys96=)
NM_006939.4(SOS2):c.2895T>C (p.Ile965=)
NM_006939.4(SOS2):c.2898T>G (p.Thr966=)
NM_006939.4(SOS2):c.290G>A (p.Arg97Gln) rs777574895
NM_006939.4(SOS2):c.2919G>C (p.Gln973His) rs1884164664
NM_006939.4(SOS2):c.2939G>A (p.Arg980Gln) rs2139550610
NM_006939.4(SOS2):c.2953A>G (p.Met985Val)
NM_006939.4(SOS2):c.2954T>C (p.Met985Thr) rs2139550560
NM_006939.4(SOS2):c.2958+12C>T
NM_006939.4(SOS2):c.2958+9T>C
NM_006939.4(SOS2):c.2959-12_2959-9del rs780266222
NM_006939.4(SOS2):c.2959-15T>C
NM_006939.4(SOS2):c.2959-19G>T
NM_006939.4(SOS2):c.2959-20T>G rs375042033
NM_006939.4(SOS2):c.2959-4C>A
NM_006939.4(SOS2):c.2967del (p.Phe989fs)
NM_006939.4(SOS2):c.296G>A (p.Arg99Gln) rs369592322
NM_006939.4(SOS2):c.2971A>G (p.Asn991Asp)
NM_006939.4(SOS2):c.2973C>G (p.Asn991Lys) rs1883999905
NM_006939.4(SOS2):c.2974C>T (p.Leu992Phe)
NM_006939.4(SOS2):c.2979C>G (p.Asn993Lys) rs768403750
NM_006939.4(SOS2):c.2980C>G (p.Pro994Ala) rs1883999639
NM_006939.4(SOS2):c.2981C>G (p.Pro994Arg) rs1883999558
NM_006939.4(SOS2):c.2982C>T (p.Pro994=) rs1432970491
NM_006939.4(SOS2):c.2983A>G (p.Met995Val) rs933544183
NM_006939.4(SOS2):c.2986G>A (p.Gly996Arg) rs780598157
NM_006939.4(SOS2):c.2989A>G (p.Ser997Gly)
NM_006939.4(SOS2):c.2990G>T (p.Ser997Ile)
NM_006939.4(SOS2):c.2992G>A (p.Ala998Thr)
NM_006939.4(SOS2):c.2996C>A (p.Ser999Tyr)
NM_006939.4(SOS2):c.2997T>C (p.Ser999=)
NM_006939.4(SOS2):c.3002A>G (p.Lys1001Arg)
NM_006939.4(SOS2):c.3003A>G (p.Lys1001=) rs546284255
NM_006939.4(SOS2):c.3006G>A (p.Glu1002=)
NM_006939.4(SOS2):c.3016T>C (p.Tyr1006His)
NM_006939.4(SOS2):c.3023del (p.Phe1008fs) rs2139528773
NM_006939.4(SOS2):c.3027C>G (p.Asn1009Lys)
NM_006939.4(SOS2):c.3028A>G (p.Lys1010Glu) rs181284424
NM_006939.4(SOS2):c.3042T>G (p.Ile1014Met) rs1447097552
NM_006939.4(SOS2):c.3047C>G (p.Pro1016Arg)
NM_006939.4(SOS2):c.304C>T (p.Pro102Ser) rs2139783538
NM_006939.4(SOS2):c.3055T>C (p.Cys1019Arg)
NM_006939.4(SOS2):c.3064C>A (p.Pro1022Thr) rs2139528591
NM_006939.4(SOS2):c.3067C>T (p.Pro1023Ser) rs1287471667
NM_006939.4(SOS2):c.3075+11dup
NM_006939.4(SOS2):c.3075+13T>C rs2139528519
NM_006939.4(SOS2):c.3075+20G>A
NM_006939.4(SOS2):c.3076-12T>C rs2139513366
NM_006939.4(SOS2):c.3076-19T>C
NM_006939.4(SOS2):c.3076-8T>C
NM_006939.4(SOS2):c.3077C>T (p.Pro1026Leu) rs2139513281
NM_006939.4(SOS2):c.3080G>A (p.Arg1027Lys)
NM_006939.4(SOS2):c.3089C>G (p.Thr1030Ser)
NM_006939.4(SOS2):c.3102dup (p.Ser1035fs)
NM_006939.4(SOS2):c.3107C>G (p.Pro1036Arg)
NM_006939.4(SOS2):c.3114A>G (p.Ile1038Met) rs1883841371
NM_006939.4(SOS2):c.3116G>A (p.Arg1039Lys)
NM_006939.4(SOS2):c.3142A>T (p.Thr1048Ser)
NM_006939.4(SOS2):c.3145T>C (p.Ser1049Pro) rs2139513028
NM_006939.4(SOS2):c.3151A>G (p.Thr1051Ala)
NM_006939.4(SOS2):c.3152C>T (p.Thr1051Ile)
NM_006939.4(SOS2):c.3153T>C (p.Thr1051=)
NM_006939.4(SOS2):c.3165C>A (p.His1055Gln)
NM_006939.4(SOS2):c.3171A>G (p.Thr1057=)
NM_006939.4(SOS2):c.3172C>T (p.Pro1058Ser) rs753668226
NM_006939.4(SOS2):c.3173C>G (p.Pro1058Arg)
NM_006939.4(SOS2):c.3173C>T (p.Pro1058Leu)
NM_006939.4(SOS2):c.3190T>A (p.Cys1064Ser)
NM_006939.4(SOS2):c.3190T>C (p.Cys1064Arg) rs1224696199
NM_006939.4(SOS2):c.3191G>A (p.Cys1064Tyr)
NM_006939.4(SOS2):c.3194A>C (p.Lys1065Thr) rs1286858047
NM_006939.4(SOS2):c.3195A>C (p.Lys1065Asn) rs2139512774
NM_006939.4(SOS2):c.3208C>T (p.Arg1070Trp)
NM_006939.4(SOS2):c.3209G>A (p.Arg1070Gln)
NM_006939.4(SOS2):c.3216T>C (p.Ala1072=)
NM_006939.4(SOS2):c.3237A>G (p.Thr1079=)
NM_006939.4(SOS2):c.3247C>T (p.Pro1083Ser)
NM_006939.4(SOS2):c.324C>A (p.Asp108Glu)
NM_006939.4(SOS2):c.3250A>C (p.Thr1084Pro)
NM_006939.4(SOS2):c.3251C>T (p.Thr1084Ile)
NM_006939.4(SOS2):c.3256C>T (p.Pro1086Ser)
NM_006939.4(SOS2):c.3260A>G (p.Asn1087Ser)
NM_006939.4(SOS2):c.3263C>T (p.Thr1088Ile)
NM_006939.4(SOS2):c.3271A>T (p.Thr1091Ser) rs1210330980
NM_006939.4(SOS2):c.3277C>G (p.Pro1093Ala)
NM_006939.4(SOS2):c.3284C>G (p.Ser1095Cys)
NM_006939.4(SOS2):c.3286G>A (p.Ala1096Thr)
NM_006939.4(SOS2):c.3295G>C (p.Asp1099His)
NM_006939.4(SOS2):c.3301A>C (p.Ser1101Arg)
NM_006939.4(SOS2):c.3302G>A (p.Ser1101Asn) rs1419463844
NM_006939.4(SOS2):c.3303T>G (p.Ser1101Arg) rs1317870927
NM_006939.4(SOS2):c.3305T>G (p.Val1102Gly)
NM_006939.4(SOS2):c.330C>A (p.Ile110=)
NM_006939.4(SOS2):c.3313G>A (p.Asp1105Asn)
NM_006939.4(SOS2):c.3327C>T (p.Asn1109=)
NM_006939.4(SOS2):c.3332C>T (p.Ser1111Phe)
NM_006939.4(SOS2):c.3337+10T>C
NM_006939.4(SOS2):c.3337+17_3337+18dup
NM_006939.4(SOS2):c.3337+4A>G rs924531063
NM_006939.4(SOS2):c.3338-14del rs1362501070
NM_006939.4(SOS2):c.3338-8del rs2139510301
NM_006939.4(SOS2):c.333T>C (p.His111=)
NM_006939.4(SOS2):c.3341G>A (p.Ser1114Asn)
NM_006939.4(SOS2):c.3344A>G (p.Asn1115Ser)
NM_006939.4(SOS2):c.3347G>A (p.Ser1116Asn)
NM_006939.4(SOS2):c.3348C>T (p.Ser1116=)
NM_006939.4(SOS2):c.3358C>T (p.Pro1120Ser)
NM_006939.4(SOS2):c.3360A>C (p.Pro1120=) rs147513220
NM_006939.4(SOS2):c.3379+11T>C
NM_006939.4(SOS2):c.3379+17T>C
NM_006939.4(SOS2):c.3379+4_3379+7del rs2139510043
NM_006939.4(SOS2):c.3379+6T>C rs2139510050
NM_006939.4(SOS2):c.3379+7A>G
NM_006939.4(SOS2):c.3380-10T>C
NM_006939.4(SOS2):c.3380-10del rs749810829
NM_006939.4(SOS2):c.3380-3_3380-2del rs1883462827
NM_006939.4(SOS2):c.3383C>G (p.Ser1128Cys) rs1566815476
NM_006939.4(SOS2):c.3384T>G (p.Ser1128=)
NM_006939.4(SOS2):c.3390T>C (p.Phe1130=)
NM_006939.4(SOS2):c.3392G>A (p.Ser1131Asn)
NM_006939.4(SOS2):c.3395C>T (p.Ser1132Leu) rs2139472231
NM_006939.4(SOS2):c.3396A>C (p.Ser1132=)
NM_006939.4(SOS2):c.3408A>T (p.Leu1136Phe)
NM_006939.4(SOS2):c.3410A>G (p.His1137Arg)
NM_006939.4(SOS2):c.3416T>G (p.Leu1139Arg)
NM_006939.4(SOS2):c.3443C>G (p.Pro1148Arg) rs1375287247
NM_006939.4(SOS2):c.3443_3454del (p.Pro1148_Pro1151del) rs777487865
NM_006939.4(SOS2):c.3447T>G (p.Leu1149=)
NM_006939.4(SOS2):c.344A>G (p.Lys115Arg)
NM_006939.4(SOS2):c.345+3A>G
NM_006939.4(SOS2):c.345+5C>T
NM_006939.4(SOS2):c.345+6A>G rs2139783376
NM_006939.4(SOS2):c.345+7A>G
NM_006939.4(SOS2):c.3452C>G (p.Pro1151Arg)
NM_006939.4(SOS2):c.346-10_346-8del
NM_006939.4(SOS2):c.346-11T>C
NM_006939.4(SOS2):c.346-21_346-17del
NM_006939.4(SOS2):c.346-5C>T
NM_006939.4(SOS2):c.346-6T>A
NM_006939.4(SOS2):c.3463T>A (p.Phe1155Ile)
NM_006939.4(SOS2):c.3468T>A (p.Asp1156Glu)
NM_006939.4(SOS2):c.3470A>G (p.His1157Arg)
NM_006939.4(SOS2):c.3481A>G (p.Asn1161Asp)
NM_006939.4(SOS2):c.3489+18A>G
NM_006939.4(SOS2):c.3489+4dup
NM_006939.4(SOS2):c.3489+8del
NM_006939.4(SOS2):c.348A>G (p.Glu116=)
NM_006939.4(SOS2):c.3490-10_3490-9insC
NM_006939.4(SOS2):c.3490-13_3490-11dup rs10658395
NM_006939.4(SOS2):c.3490-13_3490-12dup rs10658395
NM_006939.4(SOS2):c.3490-13dup rs10658395
NM_006939.4(SOS2):c.3490-14dup
NM_006939.4(SOS2):c.3490-18A>G
NM_006939.4(SOS2):c.3490-18del rs1302818165
NM_006939.4(SOS2):c.3490-2dup rs2139465845
NM_006939.4(SOS2):c.3490-4del rs10658395
NM_006939.4(SOS2):c.3501A>G (p.Lys1167=)
NM_006939.4(SOS2):c.3506A>T (p.Asp1169Val)
NM_006939.4(SOS2):c.3521C>T (p.Ala1174Val)
NM_006939.4(SOS2):c.3526C>A (p.Pro1176Thr)
NM_006939.4(SOS2):c.3530C>T (p.Pro1177Leu) rs1566814839
NM_006939.4(SOS2):c.3540T>G (p.Pro1180=) rs1052780824
NM_006939.4(SOS2):c.3540TCC[2] (p.Pro1183del)
NM_006939.4(SOS2):c.3540TCC[4] (p.Pro1183dup) rs765097073
NM_006939.4(SOS2):c.3543T>C (p.Pro1181=)
NM_006939.4(SOS2):c.3544C>A (p.Pro1182Thr)
NM_006939.4(SOS2):c.3544C>T (p.Pro1182Ser)
NM_006939.4(SOS2):c.3560C>T (p.Pro1187Leu) rs1594951526
NM_006939.4(SOS2):c.3571G>T (p.Val1191Phe) rs934357386
NM_006939.4(SOS2):c.3574C>T (p.Pro1192Ser)
NM_006939.4(SOS2):c.3578C>T (p.Thr1193Ile)
NM_006939.4(SOS2):c.3583G>A (p.Ala1195Thr)
NM_006939.4(SOS2):c.3584C>T (p.Ala1195Val) rs753151750
NM_006939.4(SOS2):c.3588T>C (p.Phe1196=) rs768208805
NM_006939.4(SOS2):c.3593G>C (p.Gly1198Ala) rs2139465314
NM_006939.4(SOS2):c.3598C>T (p.Leu1200=)
NM_006939.4(SOS2):c.3604A>G (p.Ser1202Gly)
NM_006939.4(SOS2):c.3613C>A (p.Pro1205Thr)
NM_006939.4(SOS2):c.3619_3620delinsGT (p.Pro1207Val)
NM_006939.4(SOS2):c.3621_3632del (p.Pro1208_Pro1211del)
NM_006939.4(SOS2):c.3624A>G (p.Pro1208=)
NM_006939.4(SOS2):c.3631C>G (p.Pro1211Ala)
NM_006939.4(SOS2):c.3632C>T (p.Pro1211Leu)
NM_006939.4(SOS2):c.3637_3693dup (p.Pro1231_Phe1232insProAspThrProProProValProLeuArgProProGluHisPheIleAsnCysPro)
NM_006939.4(SOS2):c.3638C>G (p.Pro1213Arg)
NM_006939.4(SOS2):c.3645C>G (p.Thr1215=)
NM_006939.4(SOS2):c.3655G>A (p.Val1219Ile)
NM_006939.4(SOS2):c.3663T>G (p.Leu1221=)
NM_006939.4(SOS2):c.3664C>T (p.Arg1222Trp)
NM_006939.4(SOS2):c.3665G>C (p.Arg1222Pro)
NM_006939.4(SOS2):c.3665G>T (p.Arg1222Leu)
NM_006939.4(SOS2):c.3671C>T (p.Pro1224Leu) rs1883396353
NM_006939.4(SOS2):c.3672A>C (p.Pro1224=)
NM_006939.4(SOS2):c.3677A>G (p.His1226Arg)
NM_006939.4(SOS2):c.3681T>A (p.Phe1227Leu)
NM_006939.4(SOS2):c.3681T>C (p.Phe1227=)
NM_006939.4(SOS2):c.3682A>G (p.Ile1228Val)
NM_006939.4(SOS2):c.3684A>T (p.Ile1228=)
NM_006939.4(SOS2):c.3700C>G (p.Leu1234Val)
NM_006939.4(SOS2):c.3707C>T (p.Pro1236Leu) rs1403796339
NM_006939.4(SOS2):c.3708A>G (p.Pro1236=)
NM_006939.4(SOS2):c.3714A>T (p.Pro1238=)
NM_006939.4(SOS2):c.3719G>C (p.Gly1240Ala)
NM_006939.4(SOS2):c.3721C>T (p.His1241Tyr)
NM_006939.4(SOS2):c.3741C>G (p.Asp1247Glu) rs1883393016
NM_006939.4(SOS2):c.3747C>T (p.Leu1249=)
NM_006939.4(SOS2):c.374A>G (p.His125Arg)
NM_006939.4(SOS2):c.3755_3757del (p.Ile1252del) rs775506222
NM_006939.4(SOS2):c.3756T>G (p.Ile1252Met)
NM_006939.4(SOS2):c.3758G>A (p.Ser1253Asn)
NM_006939.4(SOS2):c.375T>C (p.His125=)
NM_006939.4(SOS2):c.3761C>T (p.Thr1254Met)
NM_006939.4(SOS2):c.3762G>A (p.Thr1254=) rs769536087
NM_006939.4(SOS2):c.3767C>A (p.Pro1256Gln)
NM_006939.4(SOS2):c.3772T>G (p.Ser1258Ala) rs1344396759
NM_006939.4(SOS2):c.3773C>T (p.Ser1258Leu)
NM_006939.4(SOS2):c.3779G>A (p.Ser1260Asn)
NM_006939.4(SOS2):c.3781A>C (p.Thr1261Pro) rs1555367637
NM_006939.4(SOS2):c.3785C>T (p.Pro1262Leu) rs2139464111
NM_006939.4(SOS2):c.3794C>T (p.Thr1265Ile) rs2139464050
NM_006939.4(SOS2):c.3797C>T (p.Pro1266Leu) rs2139464021
NM_006939.4(SOS2):c.3798C>G (p.Pro1266=) rs1271341173
NM_006939.4(SOS2):c.3800C>T (p.Ser1267Phe)
NM_006939.4(SOS2):c.3808G>A (p.Val1270Ile)
NM_006939.4(SOS2):c.3810A>G (p.Val1270=)
NM_006939.4(SOS2):c.3812C>T (p.Pro1271Leu)
NM_006939.4(SOS2):c.3813G>A (p.Pro1271=) rs2227276
NM_006939.4(SOS2):c.3813G>C (p.Pro1271=) rs2227276
NM_006939.4(SOS2):c.3813G>T (p.Pro1271=)
NM_006939.4(SOS2):c.3814C>A (p.Arg1272Ser) rs1005498417
NM_006939.4(SOS2):c.3817C>T (p.Arg1273Ter)
NM_006939.4(SOS2):c.3818G>A (p.Arg1273Gln) rs58365465
NM_006939.4(SOS2):c.381C>T (p.Ser127=)
NM_006939.4(SOS2):c.3832A>G (p.Ser1278Gly)
NM_006939.4(SOS2):c.3837T>C (p.Ser1279=)
NM_006939.4(SOS2):c.3842A>G (p.Gln1281Arg)
NM_006939.4(SOS2):c.3849T>C (p.Asn1283=)
NM_006939.4(SOS2):c.3850C>G (p.Leu1284Val)
NM_006939.4(SOS2):c.3862C>T (p.Pro1288Ser)
NM_006939.4(SOS2):c.3869C>A (p.Pro1290His) rs1244881868
NM_006939.4(SOS2):c.3872_3873del (p.Pro1291fs)
NM_006939.4(SOS2):c.3898C>T (p.Pro1300Ser)
NM_006939.4(SOS2):c.3901C>T (p.His1301Tyr)
NM_006939.4(SOS2):c.390T>G (p.Ile130Met) rs1886426829
NM_006939.4(SOS2):c.3920del (p.Pro1307fs)
NM_006939.4(SOS2):c.3930C>G (p.Tyr1310Ter) rs1214781595
NM_006939.4(SOS2):c.3934C>A (p.Arg1312=) rs775973831
NM_006939.4(SOS2):c.3934C>T (p.Arg1312Trp)
NM_006939.4(SOS2):c.3935G>A (p.Arg1312Gln)
NM_006939.4(SOS2):c.3951C>G (p.Pro1317=)
NM_006939.4(SOS2):c.3951C>T (p.Pro1317=)
NM_006939.4(SOS2):c.3952C>A (p.Pro1318Thr)
NM_006939.4(SOS2):c.3952C>G (p.Pro1318Ala)
NM_006939.4(SOS2):c.3953C>A (p.Pro1318Gln)
NM_006939.4(SOS2):c.3957G>T (p.Leu1319Phe) rs2139462748
NM_006939.4(SOS2):c.3958T>C (p.Tyr1320His) rs950322034
NM_006939.4(SOS2):c.395C>T (p.Ala132Val)
NM_006939.4(SOS2):c.3965T>C (p.Leu1322Pro)
NM_006939.4(SOS2):c.3968C>T (p.Pro1323Leu) rs886041929
NM_006939.4(SOS2):c.3975A>G (p.Leu1325=)
NM_006939.4(SOS2):c.3980del (p.Asn1327fs)
NM_006939.4(SOS2):c.3996A>G (p.Gln1332=)
NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg)
NM_006939.4(SOS2):c.399A>C (p.Val133=) rs144584870
NM_006939.4(SOS2):c.399A>G (p.Val133=) rs144584870
NM_006939.4(SOS2):c.399A>T (p.Val133=)
NM_006939.4(SOS2):c.405G>A (p.Glu135=) rs754980356
NM_006939.4(SOS2):c.431T>A (p.Leu144Ter)
NM_006939.4(SOS2):c.432G>A (p.Leu144=) rs1051166055
NM_006939.4(SOS2):c.439A>G (p.Asn147Asp)
NM_006939.4(SOS2):c.449T>C (p.Phe150Ser) rs1886424881
NM_006939.4(SOS2):c.453T>C (p.Asn151=) rs2139778987
NM_006939.4(SOS2):c.459G>A (p.Arg153=)
NM_006939.4(SOS2):c.460C>A (p.His154Asn)
NM_006939.4(SOS2):c.462T>G (p.His154Gln)
NM_006939.4(SOS2):c.465T>C (p.Tyr155=)
NM_006939.4(SOS2):c.468A>C (p.Glu156Asp)
NM_006939.4(SOS2):c.472T>C (p.Ser158Pro)
NM_006939.4(SOS2):c.476A>G (p.Gln159Arg)
NM_006939.4(SOS2):c.483C>T (p.Asp161=)
NM_006939.4(SOS2):c.489A>G (p.Lys163=)
NM_006939.4(SOS2):c.490G>A (p.Val164Met)
NM_006939.4(SOS2):c.496A>G (p.Met166Val) rs1555322175
NM_006939.4(SOS2):c.502G>A (p.Ala168Thr) rs2139778845
NM_006939.4(SOS2):c.503C>T (p.Ala168Val)
NM_006939.4(SOS2):c.507T>A (p.Asp169Glu)
NM_006939.4(SOS2):c.510+11C>A rs113890555
NM_006939.4(SOS2):c.510+15G>A rs1359205719
NM_006939.4(SOS2):c.510+15G>T
NM_006939.4(SOS2):c.510+16del
NM_006939.4(SOS2):c.510+3_510+6del
NM_006939.4(SOS2):c.511-11C>T rs2139734747
NM_006939.4(SOS2):c.511-16G>A
NM_006939.4(SOS2):c.511-17T>A
NM_006939.4(SOS2):c.511-20T>C
NM_006939.4(SOS2):c.511-24_511-18del
NM_006939.4(SOS2):c.511-8T>C
NM_006939.4(SOS2):c.511G>A (p.Val171Ile)
NM_006939.4(SOS2):c.516G>C (p.Leu172Phe) rs561507728
NM_006939.4(SOS2):c.521A>G (p.Asp174Gly) rs2139734704
NM_006939.4(SOS2):c.523A>C (p.Met175Leu) rs1336823806
NM_006939.4(SOS2):c.523A>G (p.Met175Val)
NM_006939.4(SOS2):c.530A>G (p.Asp177Gly)
NM_006939.4(SOS2):c.534G>T (p.Gln178His) rs2139734609
NM_006939.4(SOS2):c.541A>C (p.Ile181Leu)
NM_006939.4(SOS2):c.541A>G (p.Ile181Val)
NM_006939.4(SOS2):c.541A>T (p.Ile181Leu)
NM_006939.4(SOS2):c.542T>C (p.Ile181Thr) rs1886006429
NM_006939.4(SOS2):c.545G>T (p.Gly182Val) rs149487643
NM_006939.4(SOS2):c.546T>A (p.Gly182=)
NM_006939.4(SOS2):c.549G>T (p.Leu183Phe) rs137961578
NM_006939.4(SOS2):c.550G>C (p.Val184Leu)
NM_006939.4(SOS2):c.551T>C (p.Val184Ala)
NM_006939.4(SOS2):c.554C>A (p.Ser185Tyr) rs1203751748
NM_006939.4(SOS2):c.556C>G (p.Leu186Val) rs2139734457
NM_006939.4(SOS2):c.561T>G (p.Cys187Trp)
NM_006939.4(SOS2):c.563A>G (p.Glu188Gly)
NM_006939.4(SOS2):c.564A>G (p.Glu188=)
NM_006939.4(SOS2):c.567T>C (p.Asp189=)
NM_006939.4(SOS2):c.572C>A (p.Pro191His) rs72681869
NM_006939.4(SOS2):c.574A>C (p.Ser192Arg) rs1886005265
NM_006939.4(SOS2):c.574A>G (p.Ser192Gly) rs1886005265
NM_006939.4(SOS2):c.577TCT[1] (p.Ser194del) rs769352438
NM_006939.4(SOS2):c.583G>A (p.Gly195Ser)
NM_006939.4(SOS2):c.584G>C (p.Gly195Ala)
NM_006939.4(SOS2):c.586G>C (p.Glu196Gln)
NM_006939.4(SOS2):c.609C>T (p.Val203=)
NM_006939.4(SOS2):c.622G>A (p.Ala208Thr) rs61755579
NM_006939.4(SOS2):c.622G>T (p.Ala208Ser) rs61755579
NM_006939.4(SOS2):c.642A>C (p.Leu214=) rs2139734016
NM_006939.4(SOS2):c.662T>C (p.Ile221Thr) rs2139733977
NM_006939.4(SOS2):c.674G>T (p.Arg225Leu)
NM_006939.4(SOS2):c.680C>A (p.Ala227Asp) rs756565236
NM_006939.4(SOS2):c.693T>C (p.Asp231=) rs2139733831
NM_006939.4(SOS2):c.705T>G (p.Phe235Leu)
NM_006939.4(SOS2):c.708A>G (p.Lys236=)
NM_006939.4(SOS2):c.709C>A (p.Pro237Thr)
NM_006939.4(SOS2):c.710del (p.Pro237fs) rs2139733738
NM_006939.4(SOS2):c.714+12T>C
NM_006939.4(SOS2):c.714+14del rs2139733668
NM_006939.4(SOS2):c.714+1G>A
NM_006939.4(SOS2):c.714+9C>T
NM_006939.4(SOS2):c.715-12_715-8del
NM_006939.4(SOS2):c.715-15C>T rs2139710269
NM_006939.4(SOS2):c.715-15_715-12del
NM_006939.4(SOS2):c.715-18_715-17inv
NM_006939.4(SOS2):c.715-3C>T
NM_006939.4(SOS2):c.715-4T>A
NM_006939.4(SOS2):c.715G>A (p.Asp239Asn)
NM_006939.4(SOS2):c.718A>G (p.Ile240Val) rs1885779266
NM_006939.4(SOS2):c.726G>T (p.Lys242Asn)
NM_006939.4(SOS2):c.744A>G (p.Ser248=) rs2139710078
NM_006939.4(SOS2):c.757T>C (p.Leu253=)
NM_006939.4(SOS2):c.762T>A (p.Thr254=)
NM_006939.4(SOS2):c.772T>G (p.Leu258Val)
NM_006939.4(SOS2):c.775G>A (p.Gly259Ser)
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
NM_006939.4(SOS2):c.791C>G (p.Thr264Arg)
NM_006939.4(SOS2):c.798_800delinsCAA (p.Glu266_Met267delinsAspLys) rs1885777585
NM_006939.4(SOS2):c.800T>A (p.Met267Lys) rs797045167
NM_006939.4(SOS2):c.800T>C (p.Met267Thr) rs797045167
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
NM_006939.4(SOS2):c.803C>T (p.Thr268Ile)
NM_006939.4(SOS2):c.806A>G (p.Asp269Gly)
NM_006939.4(SOS2):c.817C>G (p.Pro273Ala)
NM_006939.4(SOS2):c.835A>C (p.Ser279Arg)
NM_006939.4(SOS2):c.838T>C (p.Cys280Arg) rs2139709714
NM_006939.4(SOS2):c.842T>C (p.Phe281Ser) rs1555371627
NM_006939.4(SOS2):c.843T>C (p.Phe281=) rs2139709667
NM_006939.4(SOS2):c.846A>G (p.Glu282=) rs776312082
NM_006939.4(SOS2):c.849T>C (p.Asp283=)
NM_006939.4(SOS2):c.852G>A (p.Leu284=)
NM_006939.4(SOS2):c.858+12A>C
NM_006939.4(SOS2):c.858+12A>G rs1318750223
NM_006939.4(SOS2):c.858+19T>A rs780544622
NM_006939.4(SOS2):c.858+20T>C
NM_006939.4(SOS2):c.858+5G>C
NM_006939.4(SOS2):c.859-16_859-15del
NM_006939.4(SOS2):c.859-19T>A
NM_006939.4(SOS2):c.859-19T>C rs1435577590
NM_006939.4(SOS2):c.859-19del
NM_006939.4(SOS2):c.859-4del rs776327707
NM_006939.4(SOS2):c.864A>G (p.Gln288=)
NM_006939.4(SOS2):c.866C>T (p.Ala289Val)
NM_006939.4(SOS2):c.88-14dup rs779198092
NM_006939.4(SOS2):c.88-16T>C
NM_006939.4(SOS2):c.88-19T>C
NM_006939.4(SOS2):c.88-19T>G
NM_006939.4(SOS2):c.88-8T>C
NM_006939.4(SOS2):c.88-9T>G
NM_006939.4(SOS2):c.892C>T (p.Gln298Ter)
NM_006939.4(SOS2):c.894G>A (p.Gln298=) rs1477278734
NM_006939.4(SOS2):c.898A>G (p.Ile300Val) rs1248787575
NM_006939.4(SOS2):c.907C>T (p.Pro303Ser)
NM_006939.4(SOS2):c.908C>T (p.Pro303Leu)
NM_006939.4(SOS2):c.917A>G (p.His306Arg)
NM_006939.4(SOS2):c.932A>C (p.Lys311Thr)
NM_006939.4(SOS2):c.934T>C (p.Leu312=)
NM_006939.4(SOS2):c.940G>A (p.Ala314Thr) rs1885702958
NM_006939.4(SOS2):c.942C>G (p.Ala314=)
NM_006939.4(SOS2):c.944G>A (p.Arg315Lys) rs2139702139
NM_006939.4(SOS2):c.949G>A (p.Ala317Thr) rs2139702095
NM_006939.4(SOS2):c.955G>A (p.Ala319Thr)
NM_006939.4(SOS2):c.956C>T (p.Ala319Val) rs1329480973
NM_006939.4(SOS2):c.958C>G (p.Leu320Val)
NM_006939.4(SOS2):c.961C>T (p.His321Tyr)
NM_006939.4(SOS2):c.969+18G>T
NM_006939.4(SOS2):c.969+18dup
NM_006939.4(SOS2):c.969+19T>G
NM_006939.4(SOS2):c.969+5A>G
NM_006939.4(SOS2):c.969+6C>T rs1194667646
NM_006939.4(SOS2):c.970-15C>A
NM_006939.4(SOS2):c.970-15C>G
NM_006939.4(SOS2):c.970-16T>C
NM_006939.4(SOS2):c.975T>G (p.Ile325Met) rs2139679163
NM_006939.4(SOS2):c.995C>G (p.Ala332Gly)
NM_006939.4(SOS2):c.99A>G (p.Gln33=)

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