ClinVar Miner

List of variants in gene SOS2 reported as likely benign for multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

Included ClinVar conditions (181):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 634
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HGVS dbSNP gnomAD frequency
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.549G>C (p.Leu183Phe) rs137961578 0.00083
NM_006939.4(SOS2):c.3614C>T (p.Pro1205Leu) rs113660113 0.00071
NM_006939.4(SOS2):c.1071A>G (p.Gln357=) rs111961549 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.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.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.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.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.702G>A (p.Leu234=) rs200208472 0.00012
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.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.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.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.2058-16C>T rs577436233 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.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.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.1356T>C (p.Gly452=) rs746956553 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.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.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.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.2350C>T (p.Arg784Cys) rs760520078 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.2786-5dup rs768715951 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.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.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.929A>G (p.Asn310Ser) rs746412601 0.00002
NM_006939.4(SOS2):c.1000C>T (p.Arg334Cys) rs1364027643 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.1146A>G (p.Gln382=) rs1178247373 0.00001
NM_006939.4(SOS2):c.1196+16T>A rs1885007067 0.00001
NM_006939.4(SOS2):c.1211C>T (p.Pro404Leu) rs201265921 0.00001
NM_006939.4(SOS2):c.1326C>T (p.Phe442=) rs150365706 0.00001
NM_006939.4(SOS2):c.142A>G (p.Ile48Val) rs763552267 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.1714G>A (p.Val572Ile) rs762733592 0.00001
NM_006939.4(SOS2):c.1716A>G (p.Val572=) rs772880193 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.1889G>A (p.Arg630His) rs754778456 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.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.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.2246A>G (p.Asn749Ser) rs761689009 0.00001
NM_006939.4(SOS2):c.2253C>T (p.Thr751=) rs1050544302 0.00001
NM_006939.4(SOS2):c.2264C>T (p.Pro755Leu) rs868005783 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.2643A>G (p.Val881=) rs1329137002 0.00001
NM_006939.4(SOS2):c.2646C>T (p.Tyr882=) rs761205651 0.00001
NM_006939.4(SOS2):c.2668-10A>G rs376672810 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.2916T>C (p.Tyr972=) rs979918396 0.00001
NM_006939.4(SOS2):c.2958+17C>T rs889359090 0.00001
NM_006939.4(SOS2):c.3042T>A (p.Ile1014=) rs1447097552 0.00001
NM_006939.4(SOS2):c.3076-20A>T rs760423846 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.3153T>A (p.Thr1051=) rs1156744729 0.00001
NM_006939.4(SOS2):c.3174A>G (p.Pro1058=) rs763708050 0.00001
NM_006939.4(SOS2):c.3244G>A (p.Ala1082Thr) rs1470270507 0.00001
NM_006939.4(SOS2):c.3267A>G (p.Pro1089=) rs748295112 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.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.3531G>A (p.Pro1177=) rs1248324702 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.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.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.384A>G (p.Leu128=) rs772264111 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.592A>T (p.Asn198Tyr) rs753283972 0.00001
NM_006939.4(SOS2):c.600T>C (p.Tyr200=) rs766470992 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.954T>A (p.Val318=) rs1376460738 0.00001
NM_006939.4(SOS2):c.958C>T (p.Leu320=) rs777858898 0.00001
NM_006939.4(SOS2):c.970-14T>A rs758285778 0.00001
NM_006939.4(SOS2):c.1017T>A (p.Arg339=)
NM_006939.4(SOS2):c.1017T>C (p.Arg339=)
NM_006939.4(SOS2):c.1024C>T (p.Leu342=) rs1033098930
NM_006939.4(SOS2):c.1029G>A (p.Val343=)
NM_006939.4(SOS2):c.1032A>G (p.Pro344=)
NM_006939.4(SOS2):c.1036T>C (p.Tyr346His)
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.1068+17_1068+18del
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.1069-5del
NM_006939.4(SOS2):c.1080A>T (p.Ala360=)
NM_006939.4(SOS2):c.1107A>G (p.Glu369=)
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.1158C>T (p.Asp386=) rs942106224
NM_006939.4(SOS2):c.1170G>A (p.Lys390=)
NM_006939.4(SOS2):c.1173G>A (p.Gln391=)
NM_006939.4(SOS2):c.1176T>C (p.Tyr392=) rs1555370242
NM_006939.4(SOS2):c.1187G>A (p.Arg396His)
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.1197-8T>G rs2139630303
NM_006939.4(SOS2):c.1205T>C (p.Val402Ala)
NM_006939.4(SOS2):c.1210C>G (p.Pro404Ala)
NM_006939.4(SOS2):c.1221T>C (p.Ser407=)
NM_006939.4(SOS2):c.1227A>G (p.Gln409=)
NM_006939.4(SOS2):c.1230A>G (p.Leu410=)
NM_006939.4(SOS2):c.1242C>T (p.His414=)
NM_006939.4(SOS2):c.1263T>C (p.Asn421=) rs369267864
NM_006939.4(SOS2):c.129G>A (p.Glu43=)
NM_006939.4(SOS2):c.1323A>G (p.Glu441=)
NM_006939.4(SOS2):c.1338A>C (p.Gly446=)
NM_006939.4(SOS2):c.1338A>T (p.Gly446=)
NM_006939.4(SOS2):c.1339C>A (p.Pro447Thr)
NM_006939.4(SOS2):c.1341A>G (p.Pro447=) rs761540894
NM_006939.4(SOS2):c.1345A>G (p.Thr449Ala)
NM_006939.4(SOS2):c.1350A>G (p.Arg450=)
NM_006939.4(SOS2):c.1353C>T (p.Ile451=)
NM_006939.4(SOS2):c.1362A>G (p.Lys454=)
NM_006939.4(SOS2):c.1371G>T (p.Arg457=)
NM_006939.4(SOS2):c.141T>C (p.Tyr47=)
NM_006939.4(SOS2):c.1422C>G (p.Gly474=)
NM_006939.4(SOS2):c.1422C>T (p.Gly474=)
NM_006939.4(SOS2):c.1445G>A (p.Ser482Asn)
NM_006939.4(SOS2):c.1455A>G (p.Glu485=)
NM_006939.4(SOS2):c.1464A>G (p.Leu488=)
NM_006939.4(SOS2):c.1488A>G (p.Lys496=)
NM_006939.4(SOS2):c.1491A>T (p.Ile497=) rs2139629111
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.1523A>G (p.His508Arg)
NM_006939.4(SOS2):c.1533A>G (p.Ala511=)
NM_006939.4(SOS2):c.1540T>C (p.Leu514=)
NM_006939.4(SOS2):c.1564A>G (p.Ile522Val)
NM_006939.4(SOS2):c.1593A>G (p.Glu531=) rs1414010933
NM_006939.4(SOS2):c.1609G>T (p.Ala537Ser) rs748632850
NM_006939.4(SOS2):c.1614C>A (p.Ala538=)
NM_006939.4(SOS2):c.1614C>T (p.Ala538=)
NM_006939.4(SOS2):c.1617T>A (p.Leu539=)
NM_006939.4(SOS2):c.1642C>T (p.Leu548=)
NM_006939.4(SOS2):c.1648C>A (p.Arg550=) rs1344304906
NM_006939.4(SOS2):c.1662A>G (p.Ser554=)
NM_006939.4(SOS2):c.1766A>G (p.Asn589Ser)
NM_006939.4(SOS2):c.1767C>T (p.Asn589=) rs1427742827
NM_006939.4(SOS2):c.1776T>C (p.Ser592=)
NM_006939.4(SOS2):c.177A>G (p.Leu59=)
NM_006939.4(SOS2):c.1815G>T (p.Val605=) rs966907268
NM_006939.4(SOS2):c.1852+11C>T
NM_006939.4(SOS2):c.1852+14A>G
NM_006939.4(SOS2):c.1852+15T>C
NM_006939.4(SOS2):c.1852+19A>G
NM_006939.4(SOS2):c.1881C>T (p.Thr627=)
NM_006939.4(SOS2):c.1884A>C (p.Thr628=) rs781172817
NM_006939.4(SOS2):c.1884A>G (p.Thr628=)
NM_006939.4(SOS2):c.1932A>G (p.Glu644=)
NM_006939.4(SOS2):c.1934+11T>G rs375487320
NM_006939.4(SOS2):c.1934+12A>G rs1054073809
NM_006939.4(SOS2):c.1934+19del
NM_006939.4(SOS2):c.1935-19C>A
NM_006939.4(SOS2):c.1935-6T>C
NM_006939.4(SOS2):c.1961C>T (p.Thr654Ile)
NM_006939.4(SOS2):c.1965C>T (p.Asp655=)
NM_006939.4(SOS2):c.1981A>G (p.Ile661Val) rs1460978115
NM_006939.4(SOS2):c.1982T>C (p.Ile661Thr)
NM_006939.4(SOS2):c.1983A>T (p.Ile661=)
NM_006939.4(SOS2):c.1992C>G (p.Gly664=)
NM_006939.4(SOS2):c.2001A>G (p.Pro667=)
NM_006939.4(SOS2):c.2005A>G (p.Ser669Gly)
NM_006939.4(SOS2):c.2007T>C (p.Ser669=) rs577622341
NM_006939.4(SOS2):c.2022A>G (p.Arg674=)
NM_006939.4(SOS2):c.202C>G (p.Gln68Glu)
NM_006939.4(SOS2):c.2034A>G (p.Glu678=)
NM_006939.4(SOS2):c.2037T>C (p.Tyr679=)
NM_006939.4(SOS2):c.2046A>G (p.Pro682=) rs2139618438
NM_006939.4(SOS2):c.204A>G (p.Gln68=)
NM_006939.4(SOS2):c.2057+12A>C
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.2058-10A>G rs1303671107
NM_006939.4(SOS2):c.2058-13T>C
NM_006939.4(SOS2):c.2058-29_2058-10dup
NM_006939.4(SOS2):c.2058-4T>A
NM_006939.4(SOS2):c.2076G>A (p.Arg692=)
NM_006939.4(SOS2):c.2094T>C (p.His698=)
NM_006939.4(SOS2):c.2106T>C (p.Phe702=)
NM_006939.4(SOS2):c.2109A>G (p.Glu703=)
NM_006939.4(SOS2):c.2118G>A (p.Leu706=) rs2139604401
NM_006939.4(SOS2):c.213+10A>G rs1785709173
NM_006939.4(SOS2):c.213+13T>C
NM_006939.4(SOS2):c.213+16T>C
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.2155G>A (p.Val719Ile)
NM_006939.4(SOS2):c.2161+15G>T
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.2162-10C>A
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.2170A>G (p.Met724Val)
NM_006939.4(SOS2):c.217C>A (p.Arg73=)
NM_006939.4(SOS2):c.2190A>C (p.Ser730=)
NM_006939.4(SOS2):c.2203A>G (p.Ile735Val)
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.2243A>G (p.His748Arg)
NM_006939.4(SOS2):c.2262T>C (p.Ser754=)
NM_006939.4(SOS2):c.2268T>G (p.Pro756=) rs1555369534
NM_006939.4(SOS2):c.2276T>C (p.Ile759Thr)
NM_006939.4(SOS2):c.230C>G (p.Thr77Ser) rs565261873
NM_006939.4(SOS2):c.2313A>G (p.Thr771=)
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.2356C>T (p.Leu786=) rs1884611451
NM_006939.4(SOS2):c.2361A>G (p.Thr787=)
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+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.2442A>C (p.Ile814=)
NM_006939.4(SOS2):c.2460A>G (p.Leu820=)
NM_006939.4(SOS2):c.2472C>A (p.Arg824=)
NM_006939.4(SOS2):c.2490C>T (p.Thr830=)
NM_006939.4(SOS2):c.2493C>A (p.Leu831=)
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.2505-8G>T
NM_006939.4(SOS2):c.2510T>C (p.Ile837Thr)
NM_006939.4(SOS2):c.2520A>C (p.Ala840=)
NM_006939.4(SOS2):c.252A>G (p.Lys84=)
NM_006939.4(SOS2):c.2554A>C (p.Arg852=)
NM_006939.4(SOS2):c.2571G>A (p.Leu857=)
NM_006939.4(SOS2):c.2574A>G (p.Gln858=)
NM_006939.4(SOS2):c.2586T>C (p.Asp862=) rs1594969928
NM_006939.4(SOS2):c.2661C>G (p.Thr887=)
NM_006939.4(SOS2):c.2667+13C>T
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.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.2671C>T (p.Leu891=) rs2139556792
NM_006939.4(SOS2):c.2701G>A (p.Glu901Lys) rs556373963
NM_006939.4(SOS2):c.2740C>T (p.Leu914=) rs1363925093
NM_006939.4(SOS2):c.2742A>G (p.Leu914=)
NM_006939.4(SOS2):c.2766A>T (p.Pro922=)
NM_006939.4(SOS2):c.2785+12A>T
NM_006939.4(SOS2):c.2785+13A>T
NM_006939.4(SOS2):c.2785+14T>C
NM_006939.4(SOS2):c.2785+16T>C
NM_006939.4(SOS2):c.2785+16T>G
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.2786-18T>C
NM_006939.4(SOS2):c.2786-18_2786-17dup rs201957103
NM_006939.4(SOS2):c.2790A>G (p.Ile930Met)
NM_006939.4(SOS2):c.2814C>T (p.Thr938=)
NM_006939.4(SOS2):c.2832T>C (p.Asp944=)
NM_006939.4(SOS2):c.2853A>G (p.Lys951=)
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.2910G>A (p.Gln970=)
NM_006939.4(SOS2):c.2958+12C>A
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.2971A>G (p.Asn991Asp)
NM_006939.4(SOS2):c.297A>C (p.Arg99=)
NM_006939.4(SOS2):c.2982C>T (p.Pro994=) rs1432970491
NM_006939.4(SOS2):c.2994A>T (p.Ala998=)
NM_006939.4(SOS2):c.2997T>C (p.Ser999=)
NM_006939.4(SOS2):c.3003A>G (p.Lys1001=) rs546284255
NM_006939.4(SOS2):c.3006G>A (p.Glu1002=)
NM_006939.4(SOS2):c.3075+10T>C
NM_006939.4(SOS2):c.3075+11dup
NM_006939.4(SOS2):c.3075+13T>C rs2139528519
NM_006939.4(SOS2):c.3075+14A>G
NM_006939.4(SOS2):c.3075+20G>A
NM_006939.4(SOS2):c.3076-10C>G
NM_006939.4(SOS2):c.3076-12T>C rs2139513366
NM_006939.4(SOS2):c.3076-19T>C
NM_006939.4(SOS2):c.3076-5C>T
NM_006939.4(SOS2):c.3076-8T>C
NM_006939.4(SOS2):c.3081G>A (p.Arg1027=)
NM_006939.4(SOS2):c.3116G>A (p.Arg1039Lys)
NM_006939.4(SOS2):c.3134A>G (p.His1045Arg)
NM_006939.4(SOS2):c.3153T>C (p.Thr1051=)
NM_006939.4(SOS2):c.3171A>G (p.Thr1057=)
NM_006939.4(SOS2):c.3191G>A (p.Cys1064Tyr)
NM_006939.4(SOS2):c.3211A>G (p.Ile1071Val)
NM_006939.4(SOS2):c.3216T>C (p.Ala1072=)
NM_006939.4(SOS2):c.3237A>G (p.Thr1079=)
NM_006939.4(SOS2):c.324C>A (p.Asp108Glu)
NM_006939.4(SOS2):c.3263C>T (p.Thr1088Ile)
NM_006939.4(SOS2):c.3277C>G (p.Pro1093Ala)
NM_006939.4(SOS2):c.3304G>A (p.Val1102Ile)
NM_006939.4(SOS2):c.330C>A (p.Ile110=)
NM_006939.4(SOS2):c.3312A>G (p.Leu1104=)
NM_006939.4(SOS2):c.3327C>T (p.Asn1109=)
NM_006939.4(SOS2):c.3337+10T>C
NM_006939.4(SOS2):c.3337+17_3337+18dup
NM_006939.4(SOS2):c.3338-8del rs2139510301
NM_006939.4(SOS2):c.333T>C (p.His111=)
NM_006939.4(SOS2):c.3348C>T (p.Ser1116=)
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+7A>G
NM_006939.4(SOS2):c.3380-10T>C
NM_006939.4(SOS2):c.3384T>G (p.Ser1128=)
NM_006939.4(SOS2):c.3390T>C (p.Phe1130=)
NM_006939.4(SOS2):c.3393T>C (p.Ser1131=)
NM_006939.4(SOS2):c.3396A>C (p.Ser1132=)
NM_006939.4(SOS2):c.339G>C (p.Ser113=)
NM_006939.4(SOS2):c.3447T>G (p.Leu1149=)
NM_006939.4(SOS2):c.345+11A>G
NM_006939.4(SOS2):c.345+7A>G
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.3470A>G (p.His1157Arg)
NM_006939.4(SOS2):c.3486C>T (p.Ser1162=)
NM_006939.4(SOS2):c.3489+14C>G
NM_006939.4(SOS2):c.3489+15T>G
NM_006939.4(SOS2):c.3489+17T>C
NM_006939.4(SOS2):c.3489+18A>G
NM_006939.4(SOS2):c.3489+8del
NM_006939.4(SOS2):c.3489+9C>T
NM_006939.4(SOS2):c.348A>G (p.Glu116=)
NM_006939.4(SOS2):c.3490-10_3490-9insC
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.3501A>G (p.Lys1167=)
NM_006939.4(SOS2):c.3510T>C (p.Asp1170=)
NM_006939.4(SOS2):c.3513T>C (p.Asp1171=)
NM_006939.4(SOS2):c.3521C>T (p.Ala1174Val)
NM_006939.4(SOS2):c.3528A>G (p.Pro1176=)
NM_006939.4(SOS2):c.3534A>G (p.Arg1178=)
NM_006939.4(SOS2):c.3540T>G (p.Pro1180=) rs1052780824
NM_006939.4(SOS2):c.3540TCC[4] (p.Pro1183dup) rs765097073
NM_006939.4(SOS2):c.3543T>C (p.Pro1181=)
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.3591T>C (p.Asp1197=)
NM_006939.4(SOS2):c.3594G>A (p.Gly1198=)
NM_006939.4(SOS2):c.3598C>T (p.Leu1200=)
NM_006939.4(SOS2):c.3605G>A (p.Ser1202Asn)
NM_006939.4(SOS2):c.3609A>T (p.Pro1203=)
NM_006939.4(SOS2):c.3624A>G (p.Pro1208=)
NM_006939.4(SOS2):c.3632C>T (p.Pro1211Leu)
NM_006939.4(SOS2):c.3645C>G (p.Thr1215=)
NM_006939.4(SOS2):c.3663T>G (p.Leu1221=)
NM_006939.4(SOS2):c.3665G>A (p.Arg1222Gln)
NM_006939.4(SOS2):c.3672A>C (p.Pro1224=)
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.3708A>G (p.Pro1236=)
NM_006939.4(SOS2):c.3714A>T (p.Pro1238=)
NM_006939.4(SOS2):c.3722A>G (p.His1241Arg)
NM_006939.4(SOS2):c.3747C>T (p.Leu1249=)
NM_006939.4(SOS2):c.3755_3757del (p.Ile1252del) rs775506222
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.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.3798C>G (p.Pro1266=) rs1271341173
NM_006939.4(SOS2):c.3810A>G (p.Val1270=)
NM_006939.4(SOS2):c.3812C>T (p.Pro1271Leu)
NM_006939.4(SOS2):c.3813G>C (p.Pro1271=) rs2227276
NM_006939.4(SOS2):c.3813G>T (p.Pro1271=)
NM_006939.4(SOS2):c.381C>T (p.Ser127=)
NM_006939.4(SOS2):c.3837T>C (p.Ser1279=)
NM_006939.4(SOS2):c.3849T>C (p.Asn1283=)
NM_006939.4(SOS2):c.3901C>T (p.His1301Tyr)
NM_006939.4(SOS2):c.3906G>A (p.Leu1302=)
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.3975A>G (p.Leu1325=)
NM_006939.4(SOS2):c.3993C>T (p.Pro1331=)
NM_006939.4(SOS2):c.3996A>G (p.Gln1332=)
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.432G>A (p.Leu144=) rs1051166055
NM_006939.4(SOS2):c.453T>C (p.Asn151=) rs2139778987
NM_006939.4(SOS2):c.459G>A (p.Arg153=)
NM_006939.4(SOS2):c.465T>C (p.Tyr155=)
NM_006939.4(SOS2):c.483C>T (p.Asp161=)
NM_006939.4(SOS2):c.489A>G (p.Lys163=)
NM_006939.4(SOS2):c.503C>T (p.Ala168Val)
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.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.546T>A (p.Gly182=)
NM_006939.4(SOS2):c.550G>C (p.Val184Leu)
NM_006939.4(SOS2):c.567T>C (p.Asp189=)
NM_006939.4(SOS2):c.584G>C (p.Gly195Ala)
NM_006939.4(SOS2):c.609C>T (p.Val203=)
NM_006939.4(SOS2):c.642A>C (p.Leu214=) rs2139734016
NM_006939.4(SOS2):c.679G>A (p.Ala227Thr)
NM_006939.4(SOS2):c.693T>C (p.Asp231=) rs2139733831
NM_006939.4(SOS2):c.708A>G (p.Lys236=)
NM_006939.4(SOS2):c.709C>A (p.Pro237Thr)
NM_006939.4(SOS2):c.714+12T>C
NM_006939.4(SOS2):c.714+14T>A
NM_006939.4(SOS2):c.714+19T>G
NM_006939.4(SOS2):c.714+9C>T
NM_006939.4(SOS2):c.715-15C>T rs2139710269
NM_006939.4(SOS2):c.715-15_715-12del
NM_006939.4(SOS2):c.715-4T>A
NM_006939.4(SOS2):c.744A>G (p.Ser248=) rs2139710078
NM_006939.4(SOS2):c.757T>C (p.Leu253=)
NM_006939.4(SOS2):c.825C>G (p.Pro275=)
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+17A>G
NM_006939.4(SOS2):c.858+19T>A rs780544622
NM_006939.4(SOS2):c.858+20T>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.864A>G (p.Gln288=)
NM_006939.4(SOS2):c.88-12T>C
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.88-6T>G
NM_006939.4(SOS2):c.88-6_88-5insC
NM_006939.4(SOS2):c.88-8T>C
NM_006939.4(SOS2):c.88-9T>G
NM_006939.4(SOS2):c.894G>A (p.Gln298=) rs1477278734
NM_006939.4(SOS2):c.917A>G (p.His306Arg)
NM_006939.4(SOS2):c.942C>G (p.Ala314=)
NM_006939.4(SOS2):c.956C>T (p.Ala319Val) rs1329480973
NM_006939.4(SOS2):c.957T>C (p.Ala319=)
NM_006939.4(SOS2):c.958C>G (p.Leu320Val)
NM_006939.4(SOS2):c.960A>G (p.Leu320=)
NM_006939.4(SOS2):c.969+13T>C
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+20T>C
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.99A>G (p.Gln33=)

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