ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 737
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006270.5(RRAS):c.49G>T (p.Gly17Trp) rs373359206 0.00026
NM_006270.5(RRAS):c.338G>A (p.Arg113Gln) rs766259420 0.00020
NM_006939.4(SOS2):c.2385-3T>C rs374402293 0.00016
NM_006270.5(RRAS):c.344+6_344+7del rs755223611 0.00014
NM_006270.5(RRAS):c.371C>T (p.Thr124Met) rs369508242 0.00014
NM_006912.6(RIT1):c.38G>A (p.Ser13Asn) rs145034964 0.00012
NM_006270.5(RRAS):c.631G>A (p.Gly211Arg) rs369588682 0.00011
NM_006939.4(SOS2):c.1868G>A (p.Arg623His) rs138459515 0.00010
NM_006912.6(RIT1):c.634C>T (p.Arg212Trp) rs563231684 0.00009
NM_006939.4(SOS2):c.2758A>G (p.Ile920Val) rs755783805 0.00007
NM_006270.5(RRAS):c.163G>A (p.Val55Met) rs368625677 0.00006
NM_006270.5(RRAS):c.409G>A (p.Val137Ile) rs757080959 0.00006
NM_006939.4(SOS2):c.3868C>G (p.Pro1290Ala) rs761580972 0.00006
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_006270.5(RRAS):c.38G>A (p.Arg13Gln) rs764597042 0.00004
NM_006270.5(RRAS):c.400G>A (p.Asp134Asn) rs374650566 0.00004
NM_006270.5(RRAS):c.453+5G>A rs766707816 0.00004
NM_006270.5(RRAS):c.481G>A (p.Gly161Ser) rs758697481 0.00004
NM_006270.5(RRAS):c.598C>T (p.Pro200Ser) rs548040971 0.00004
NM_006270.5(RRAS):c.646G>A (p.Val216Ile) rs748655822 0.00004
NM_006912.6(RIT1):c.341T>A (p.Phe114Tyr) rs745807905 0.00004
NM_006912.6(RIT1):c.635G>A (p.Arg212Gln) rs764347644 0.00004
NM_006939.4(SOS2):c.257C>T (p.Ala86Val) rs146272145 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.811A>G (p.Ser271Gly) rs775494170 0.00004
NM_006270.5(RRAS):c.175G>C (p.Asp59His) rs775437600 0.00003
NM_006270.5(RRAS):c.307G>A (p.Gly103Ser) rs745911237 0.00003
NM_006270.5(RRAS):c.352G>A (p.Glu118Lys) rs533583599 0.00003
NM_006270.5(RRAS):c.461G>A (p.Arg154Gln) rs1039650903 0.00003
NM_006270.5(RRAS):c.649C>G (p.Leu217Val) rs988964363 0.00003
NM_006270.5(RRAS):c.64G>T (p.Gly22Trp) rs754976061 0.00003
NM_006912.6(RIT1):c.506A>G (p.Tyr169Cys) rs763208084 0.00003
NM_006939.4(SOS2):c.1282G>A (p.Asp428Asn) rs146283711 0.00003
NM_006939.4(SOS2):c.1417C>T (p.His473Tyr) rs756637706 0.00003
NM_006939.4(SOS2):c.260T>C (p.Ile87Thr) rs747274422 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.3814C>T (p.Arg1272Cys) rs1005498417 0.00003
NM_006270.5(RRAS):c.10G>T (p.Gly4Trp) rs2081015843 0.00002
NM_006270.5(RRAS):c.232C>T (p.Arg78Trp) rs755565332 0.00002
NM_006270.5(RRAS):c.487T>C (p.Ser163Pro) rs1446034967 0.00002
NM_006270.5(RRAS):c.533A>G (p.Asn178Ser) rs762794552 0.00002
NM_006270.5(RRAS):c.573-16T>A rs756598983 0.00002
NM_006270.5(RRAS):c.627G>T (p.Lys209Asn) rs771557284 0.00002
NM_006912.6(RIT1):c.367C>T (p.Arg123Cys) rs1213963509 0.00002
NM_006912.6(RIT1):c.368G>A (p.Arg123His) rs977405637 0.00002
NM_006912.6(RIT1):c.646G>A (p.Asp216Asn) rs545031201 0.00002
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.2315T>G (p.Phe772Cys) rs200715068 0.00002
NM_006939.4(SOS2):c.2347G>T (p.Ala783Ser) rs774498876 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.2590A>T (p.Asn864Tyr) rs781119008 0.00002
NM_006939.4(SOS2):c.3338-4A>G rs777684425 0.00002
NM_006939.4(SOS2):c.3403A>G (p.Ser1135Gly) rs375478974 0.00002
NM_006939.4(SOS2):c.364G>A (p.Val122Met) rs1208838203 0.00002
NM_006939.4(SOS2):c.714T>G (p.Ser238=) rs750665891 0.00002
NM_006270.5(RRAS):c.11G>C (p.Gly4Ala) rs1201865280 0.00001
NM_006270.5(RRAS):c.153+3A>G rs200100211 0.00001
NM_006270.5(RRAS):c.158A>T (p.Tyr53Phe) rs908791453 0.00001
NM_006270.5(RRAS):c.167C>G (p.Ser56Cys) rs537601977 0.00001
NM_006270.5(RRAS):c.200C>T (p.Thr67Met) rs778415296 0.00001
NM_006270.5(RRAS):c.233G>A (p.Arg78Gln) rs1162722748 0.00001
NM_006270.5(RRAS):c.296G>A (p.Arg99His) rs1287689249 0.00001
NM_006270.5(RRAS):c.325G>A (p.Ala109Thr) rs1358894507 0.00001
NM_006270.5(RRAS):c.394C>T (p.Arg132Cys) rs773258112 0.00001
NM_006270.5(RRAS):c.422G>C (p.Gly141Ala) rs369240501 0.00001
NM_006270.5(RRAS):c.427A>T (p.Lys143Ter) rs896071517 0.00001
NM_006270.5(RRAS):c.448C>T (p.Arg150Cys) rs767209383 0.00001
NM_006270.5(RRAS):c.453+4C>T rs774803334 0.00001
NM_006270.5(RRAS):c.457C>A (p.Pro153Thr) rs1423079476 0.00001
NM_006270.5(RRAS):c.496G>A (p.Val166Met) rs151171681 0.00001
NM_006270.5(RRAS):c.509A>G (p.Glu170Gly) rs1162824119 0.00001
NM_006270.5(RRAS):c.515C>T (p.Ser172Leu) rs754342165 0.00001
NM_006270.5(RRAS):c.527G>A (p.Arg176His) rs556200895 0.00001
NM_006270.5(RRAS):c.535G>A (p.Val179Met) rs769754956 0.00001
NM_006270.5(RRAS):c.53G>A (p.Gly18Glu) rs1447937831 0.00001
NM_006270.5(RRAS):c.562C>T (p.Arg188Trp) rs538230538 0.00001
NM_006270.5(RRAS):c.614C>T (p.Ala205Val) rs1043558932 0.00001
NM_006270.5(RRAS):c.61C>T (p.Pro21Ser) rs1166281308 0.00001
NM_006270.5(RRAS):c.74C>T (p.Pro25Leu) rs558985706 0.00001
NM_006912.6(RIT1):c.13A>T (p.Thr5Ser) rs771768320 0.00001
NM_006912.6(RIT1):c.140C>T (p.Pro47Leu) rs747376042 0.00001
NM_006912.6(RIT1):c.163+6C>A rs1157450415 0.00001
NM_006912.6(RIT1):c.208A>T (p.Asn70Tyr) rs1394425355 0.00001
NM_006912.6(RIT1):c.257G>A (p.Arg86Gln) rs1185965337 0.00001
NM_006912.6(RIT1):c.326A>G (p.His109Arg) rs1407666045 0.00001
NM_006912.6(RIT1):c.334C>T (p.Arg112Cys) rs375724784 0.00001
NM_006912.6(RIT1):c.35G>A (p.Cys12Tyr) rs1177306699 0.00001
NM_006912.6(RIT1):c.461G>A (p.Arg154Gln) rs754596127 0.00001
NM_006912.6(RIT1):c.46G>A (p.Ala16Thr) rs1131692009 0.00001
NM_006912.6(RIT1):c.500A>G (p.Tyr167Cys) rs1372704169 0.00001
NM_006912.6(RIT1):c.539G>A (p.Arg180Gln) rs760845441 0.00001
NM_006912.6(RIT1):c.548G>A (p.Arg183His) rs1673291082 0.00001
NM_006912.6(RIT1):c.575C>T (p.Ala192Val) rs376391961 0.00001
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.1121C>A (p.Ala374Asp) rs1447501425 0.00001
NM_006939.4(SOS2):c.1146A>G (p.Gln382=) rs1178247373 0.00001
NM_006939.4(SOS2):c.1197-3T>C rs1252986580 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.1430G>A (p.Arg477Gln) rs139953230 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.1747A>G (p.Asn583Asp) rs1388854755 0.00001
NM_006939.4(SOS2):c.1859A>G (p.Asn620Ser) rs772156276 0.00001
NM_006939.4(SOS2):c.1973A>G (p.Lys658Arg) rs1317956888 0.00001
NM_006939.4(SOS2):c.2068G>A (p.Val690Ile) rs766745289 0.00001
NM_006939.4(SOS2):c.2245A>G (p.Asn749Asp) rs764992819 0.00001
NM_006939.4(SOS2):c.2255T>A (p.Phe752Tyr) rs1392882497 0.00001
NM_006939.4(SOS2):c.2269C>T (p.Pro757Ser) rs775139330 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.2657A>G (p.His886Arg) rs775815870 0.00001
NM_006939.4(SOS2):c.2722G>A (p.Asp908Asn) rs957376198 0.00001
NM_006939.4(SOS2):c.2849G>A (p.Gly950Glu) rs765330931 0.00001
NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys) rs772746106 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.3056G>A (p.Cys1019Tyr) rs1883997609 0.00001
NM_006939.4(SOS2):c.3076-3C>T rs1293540485 0.00001
NM_006939.4(SOS2):c.3149G>T (p.Gly1050Val) rs1012247714 0.00001
NM_006939.4(SOS2):c.3215C>T (p.Ala1072Val) rs1798276045 0.00001
NM_006939.4(SOS2):c.3266C>A (p.Pro1089Gln) rs1409054252 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.3356C>T (p.Ala1119Val) rs376113934 0.00001
NM_006939.4(SOS2):c.346-3C>T rs758131262 0.00001
NM_006939.4(SOS2):c.3571G>C (p.Val1191Leu) rs934357386 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.3761C>G (p.Thr1254Arg) rs772587016 0.00001
NM_006939.4(SOS2):c.3793A>G (p.Thr1265Ala) rs1053118797 0.00001
NM_006939.4(SOS2):c.3845A>G (p.Asn1282Ser) rs376158218 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.88-17A>G rs776823815 0.00001
NC_000001.10:g.(?_155581953)_(155880552_?)del
NC_000001.10:g.(?_155870159)_(155880696_?)dup
NC_000001.10:g.(?_155870179)_(155874615_?)dup
NC_000001.10:g.(?_155870179)_(155880552_?)dup
NC_000001.10:g.(?_155874092)_(155880686_?)dup
NC_000001.10:g.(?_155877093)_(155880300_?)del
NC_000001.10:g.(?_155880221)_(156109650_?)del
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.(?_50641152)_(50778868_?)dup
NC_000014.8:g.(?_50649161)_(50655438_?)dup
NC_000014.8:g.(?_50655195)_(50655438_?)dup
NC_000014.8:g.(?_50697895)_(51288774_?)dup
NC_000014.9:g.(?_50188487)_(50204419_?)dup
NM_006270.5(RRAS):c.115G>T (p.Gly39Cys) rs1349125359
NM_006270.5(RRAS):c.12_13delinsAA (p.Ala5Thr)
NM_006270.5(RRAS):c.147C>A (p.Phe49Leu) rs2081014653
NM_006270.5(RRAS):c.153+17C>A rs376005750
NM_006270.5(RRAS):c.182C>A (p.Thr61Asn)
NM_006270.5(RRAS):c.1A>G (p.Met1Val)
NM_006270.5(RRAS):c.1A>T (p.Met1Leu)
NM_006270.5(RRAS):c.209G>A (p.Cys70Tyr)
NM_006270.5(RRAS):c.227C>T (p.Pro76Leu) rs756447228
NM_006270.5(RRAS):c.241+5G>A rs2081000124
NM_006270.5(RRAS):c.241+6G>A rs925991568
NM_006270.5(RRAS):c.241+6G>C rs925991568
NM_006270.5(RRAS):c.253G>A (p.Ala85Thr)
NM_006270.5(RRAS):c.262del (p.Glu88fs)
NM_006270.5(RRAS):c.274G>A (p.Ala92Thr)
NM_006270.5(RRAS):c.289T>C (p.Tyr97His)
NM_006270.5(RRAS):c.28G>A (p.Gly10Arg)
NM_006270.5(RRAS):c.292A>G (p.Met98Val)
NM_006270.5(RRAS):c.295C>T (p.Arg99Cys)
NM_006270.5(RRAS):c.29G>C (p.Gly10Ala) rs2081015676
NM_006270.5(RRAS):c.2T>A (p.Met1Lys) rs928367564
NM_006270.5(RRAS):c.319G>A (p.Val107Met)
NM_006270.5(RRAS):c.337C>T (p.Arg113Trp)
NM_006270.5(RRAS):c.345-14G>A
NM_006270.5(RRAS):c.356T>G (p.Val119Gly) rs2122419368
NM_006270.5(RRAS):c.367T>A (p.Phe123Ile)
NM_006270.5(RRAS):c.371C>G (p.Thr124Arg) rs369508242
NM_006270.5(RRAS):c.382C>T (p.Arg128Trp) rs1379523599
NM_006270.5(RRAS):c.395G>A (p.Arg132His)
NM_006270.5(RRAS):c.412G>T (p.Val138Leu) rs2122419131
NM_006270.5(RRAS):c.436C>A (p.Leu146Met)
NM_006270.5(RRAS):c.449G>C (p.Arg150Pro) rs1017555483
NM_006270.5(RRAS):c.44G>A (p.Arg15Gln)
NM_006270.5(RRAS):c.44G>C (p.Arg15Pro)
NM_006270.5(RRAS):c.454-6C>T rs1568436933
NM_006270.5(RRAS):c.454G>A (p.Val152Ile)
NM_006270.5(RRAS):c.472_473insTT (p.Ser158fs) rs760978291
NM_006270.5(RRAS):c.475G>C (p.Ala159Pro)
NM_006270.5(RRAS):c.484G>A (p.Ala162Thr)
NM_006270.5(RRAS):c.493C>G (p.His165Asp)
NM_006270.5(RRAS):c.498G>A (p.Val166=)
NM_006270.5(RRAS):c.50G>T (p.Gly17Val)
NM_006270.5(RRAS):c.526C>T (p.Arg176Cys) rs775719606
NM_006270.5(RRAS):c.533A>C (p.Asn178Thr)
NM_006270.5(RRAS):c.541G>A (p.Glu181Lys)
NM_006270.5(RRAS):c.541G>C (p.Glu181Gln) rs1428526675
NM_006270.5(RRAS):c.553C>A (p.Gln185Lys) rs2122416729
NM_006270.5(RRAS):c.560T>C (p.Val187Ala) rs1599813084
NM_006270.5(RRAS):c.563G>A (p.Arg188Gln) rs374621936
NM_006270.5(RRAS):c.571C>T (p.Arg191Trp)
NM_006270.5(RRAS):c.572+3G>A
NM_006270.5(RRAS):c.572+5G>A
NM_006270.5(RRAS):c.572G>A (p.Arg191Gln) rs759803129
NM_006270.5(RRAS):c.572G>T (p.Arg191Leu) rs759803129
NM_006270.5(RRAS):c.576A>G (p.Lys192=)
NM_006270.5(RRAS):c.599C>T (p.Pro200Leu)
NM_006270.5(RRAS):c.610A>G (p.Ser204Gly)
NM_006270.5(RRAS):c.623A>G (p.Lys208Arg) rs1568436746
NM_006270.5(RRAS):c.643T>C (p.Cys215Arg)
NM_006270.5(RRAS):c.67G>A (p.Asp23Asn) rs2081015208
NM_006270.5(RRAS):c.70C>T (p.Pro24Ser) rs2122429906
NM_006270.5(RRAS):c.74dup (p.Pro26fs) rs755237250
NM_006270.5(RRAS):c.77C>T (p.Pro26Leu)
NM_006270.5(RRAS):c.84G>C (p.Glu28Asp)
NM_006270.5(RRAS):c.98T>C (p.Val33Ala) rs2122429748
NM_006912.6(RIT1):c.10G>C (p.Gly4Arg) rs2102591257
NM_006912.6(RIT1):c.112A>G (p.Thr38Ala) rs1557962699
NM_006912.6(RIT1):c.116T>A (p.Met39Lys) rs2102590945
NM_006912.6(RIT1):c.11G>A (p.Gly4Glu) rs2102591253
NM_006912.6(RIT1):c.125T>C (p.Ile42Thr)
NM_006912.6(RIT1):c.128G>C (p.Ser43Thr)
NM_006912.6(RIT1):c.133C>G (p.Arg45Gly)
NM_006912.6(RIT1):c.134G>T (p.Arg45Leu) rs1673569021
NM_006912.6(RIT1):c.139C>A (p.Pro47Thr)
NM_006912.6(RIT1):c.145G>C (p.Asp49His) rs2102590904
NM_006912.6(RIT1):c.146A>T (p.Asp49Val)
NM_006912.6(RIT1):c.14C>T (p.Thr5Ile)
NM_006912.6(RIT1):c.151G>T (p.Asp51Tyr) rs869025190
NM_006912.6(RIT1):c.153T>A (p.Asp51Glu)
NM_006912.6(RIT1):c.153T>G (p.Asp51Glu) rs1571999275
NM_006912.6(RIT1):c.162T>A (p.Ile54=)
NM_006912.6(RIT1):c.163+5G>T rs1673568021
NM_006912.6(RIT1):c.17G>C (p.Arg6Pro)
NM_006912.6(RIT1):c.206C>A (p.Ala69Asp)
NM_006912.6(RIT1):c.211C>G (p.Leu71Val)
NM_006912.6(RIT1):c.212_213del (p.Leu71fs)
NM_006912.6(RIT1):c.229_234dup (p.Ala77_Gly78dup) rs1673399028
NM_006912.6(RIT1):c.22G>T (p.Val8Phe)
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268
NM_006912.6(RIT1):c.238-2dup rs1298539810
NM_006912.6(RIT1):c.23T>C (p.Val8Ala)
NM_006912.6(RIT1):c.253A>G (p.Met85Val)
NM_006912.6(RIT1):c.256C>T (p.Arg86Trp)
NM_006912.6(RIT1):c.274G>T (p.Ala92Ser)
NM_006912.6(RIT1):c.29G>C (p.Ser10Thr)
NM_006912.6(RIT1):c.304A>G (p.Ile102Val) rs886041962
NM_006912.6(RIT1):c.309G>A (p.Thr103=) rs370396152
NM_006912.6(RIT1):c.310G>A (p.Asp104Asn)
NM_006912.6(RIT1):c.313C>T (p.Arg105Cys)
NM_006912.6(RIT1):c.326A>T (p.His109Leu) rs1407666045
NM_006912.6(RIT1):c.335G>A (p.Arg112His)
NM_006912.6(RIT1):c.338A>T (p.Glu113Val)
NM_006912.6(RIT1):c.340T>C (p.Phe114Leu)
NM_006912.6(RIT1):c.359G>A (p.Arg120Gln)
NM_006912.6(RIT1):c.374A>G (p.Asp125Gly)
NM_006912.6(RIT1):c.376G>A (p.Asp126Asn)
NM_006912.6(RIT1):c.379A>G (p.Thr127Ala)
NM_006912.6(RIT1):c.401A>G (p.Asn134Ser)
NM_006912.6(RIT1):c.413T>G (p.Leu138Arg)
NM_006912.6(RIT1):c.417A>T (p.Lys139Asn)
NM_006912.6(RIT1):c.433A>G (p.Thr145Ala)
NM_006912.6(RIT1):c.446G>C (p.Gly149Ala)
NM_006912.6(RIT1):c.470G>A (p.Ser157Asn)
NM_006912.6(RIT1):c.488C>T (p.Thr163Ile) rs2102581107
NM_006912.6(RIT1):c.491C>G (p.Ser164Cys)
NM_006912.6(RIT1):c.4G>A (p.Asp2Asn) rs924364497
NM_006912.6(RIT1):c.503G>A (p.Arg168His)
NM_006912.6(RIT1):c.505T>A (p.Tyr169Asn)
NM_006912.6(RIT1):c.509A>G (p.Tyr170Cys)
NM_006912.6(RIT1):c.50G>A (p.Gly17Glu)
NM_006912.6(RIT1):c.532C>G (p.Leu178Val) rs730881013
NM_006912.6(RIT1):c.535G>A (p.Val179Ile)
NM_006912.6(RIT1):c.538C>T (p.Arg180Trp)
NM_006912.6(RIT1):c.546A>G (p.Ile182Met) rs1673291260
NM_006912.6(RIT1):c.547C>T (p.Arg183Cys)
NM_006912.6(RIT1):c.550A>G (p.Arg184Gly)
NM_006912.6(RIT1):c.559A>C (p.Lys187Gln)
NM_006912.6(RIT1):c.561G>C (p.Lys187Asn)
NM_006912.6(RIT1):c.565G>A (p.Ala189Thr)
NM_006912.6(RIT1):c.566C>T (p.Ala189Val)
NM_006912.6(RIT1):c.572T>A (p.Leu191Gln)
NM_006912.6(RIT1):c.578T>C (p.Met193Thr)
NM_006912.6(RIT1):c.578T>G (p.Met193Arg)
NM_006912.6(RIT1):c.587A>C (p.Lys196Thr)
NM_006912.6(RIT1):c.588A>C (p.Lys196Asn)
NM_006912.6(RIT1):c.589T>C (p.Ser197Pro) rs1673289658
NM_006912.6(RIT1):c.598A>C (p.Lys200Gln)
NM_006912.6(RIT1):c.602A>G (p.Asn201Ser)
NM_006912.6(RIT1):c.604_605del (p.Ser202fs)
NM_006912.6(RIT1):c.607G>A (p.Val203Ile)
NM_006912.6(RIT1):c.617G>A (p.Arg206Lys)
NM_006912.6(RIT1):c.617G>C (p.Arg206Thr)
NM_006912.6(RIT1):c.618G>C (p.Arg206Ser)
NM_006912.6(RIT1):c.634del (p.Arg212fs)
NM_006912.6(RIT1):c.638del (p.Lys213fs)
NM_006912.6(RIT1):c.644_647del (p.Lys215fs) rs766063111
NM_006912.6(RIT1):c.645del (p.Asp216fs) rs1673288090
NM_006912.6(RIT1):c.649del (p.Ser217fs) rs1673287696
NM_006912.6(RIT1):c.650C>G (p.Ser217Ter)
NM_006912.6(RIT1):c.7T>G (p.Ser3Ala) rs2102591265
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.1022T>C (p.Met341Thr)
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.106C>G (p.Pro36Ala)
NM_006939.4(SOS2):c.1084A>G (p.Ser362Gly)
NM_006939.4(SOS2):c.1153A>G (p.Met385Val)
NM_006939.4(SOS2):c.1159C>A (p.Arg387=)
NM_006939.4(SOS2):c.115T>A (p.Ser39Thr) rs2139796314
NM_006939.4(SOS2):c.1173G>T (p.Gln391His)
NM_006939.4(SOS2):c.1175A>G (p.Tyr392Cys) rs1085307558
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.1217A>G (p.Tyr406Cys)
NM_006939.4(SOS2):c.122A>G (p.Asn41Ser)
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.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.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.1300G>C (p.Asp434His) rs2139629861
NM_006939.4(SOS2):c.1320T>A (p.Asn440Lys) rs1884941722
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>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.1370G>A (p.Arg457Gln)
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.1427C>T (p.Thr476Ile) rs2139629330
NM_006939.4(SOS2):c.1429C>T (p.Arg477Trp) rs1555370121
NM_006939.4(SOS2):c.1445G>T (p.Ser482Ile) rs1195086721
NM_006939.4(SOS2):c.1463T>G (p.Leu488Ter)
NM_006939.4(SOS2):c.1474T>C (p.Phe492Leu)
NM_006939.4(SOS2):c.1480A>T (p.Met494Leu) rs1884937684
NM_006939.4(SOS2):c.1492C>G (p.Gln498Glu)
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.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.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.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.1610C>T (p.Ala537Val)
NM_006939.4(SOS2):c.1612G>A (p.Ala538Thr)
NM_006939.4(SOS2):c.1634G>A (p.Arg545His)
NM_006939.4(SOS2):c.1642C>A (p.Leu548Ile)
NM_006939.4(SOS2):c.1649G>A (p.Arg550Gln)
NM_006939.4(SOS2):c.1661C>T (p.Ser554Leu) rs763829729
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.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.181A>G (p.Met61Val) rs774761716
NM_006939.4(SOS2):c.1832T>C (p.Leu611Ser)
NM_006939.4(SOS2):c.1838A>G (p.Tyr613Cys)
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.1867C>T (p.Arg623Cys)
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.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.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.1966G>T (p.Ala656Ser)
NM_006939.4(SOS2):c.19C>A (p.Pro7Thr)
NM_006939.4(SOS2):c.1_20dup (p.Tyr8fs)
NM_006939.4(SOS2):c.2000C>T (p.Pro667Leu)
NM_006939.4(SOS2):c.2021G>A (p.Arg674Lys) rs371205081
NM_006939.4(SOS2):c.2026C>T (p.Arg676Cys)
NM_006939.4(SOS2):c.2027G>T (p.Arg676Leu)
NM_006939.4(SOS2):c.2039T>C (p.Val680Ala)
NM_006939.4(SOS2):c.2045C>T (p.Pro682Leu)
NM_006939.4(SOS2):c.2047G>A (p.Val683Ile) rs1884843220
NM_006939.4(SOS2):c.205G>A (p.Asp69Asn)
NM_006939.4(SOS2):c.2104T>C (p.Phe702Leu) rs2139604459
NM_006939.4(SOS2):c.2113G>T (p.Asp705Tyr) rs1057518079
NM_006939.4(SOS2):c.2128G>C (p.Glu710Gln) rs768829374
NM_006939.4(SOS2):c.2148T>G (p.Ile716Met)
NM_006939.4(SOS2):c.2161+7_2161+11del
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.2193T>G (p.Ile731Met)
NM_006939.4(SOS2):c.220G>A (p.Val74Ile) rs1886470934
NM_006939.4(SOS2):c.2217G>T (p.Lys739Asn) rs186110427
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.2249T>G (p.Ile750Ser)
NM_006939.4(SOS2):c.224A>G (p.Gln75Arg) rs2139783861
NM_006939.4(SOS2):c.2272C>G (p.Pro758Ala)
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.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.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.2359A>C (p.Thr787Pro)
NM_006939.4(SOS2):c.2362C>G (p.Leu788Val) rs771681478
NM_006939.4(SOS2):c.2369A>G (p.Glu790Gly)
NM_006939.4(SOS2):c.2384+18A>G
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.2453A>G (p.Asn818Ser)
NM_006939.4(SOS2):c.2466G>A (p.Met822Ile)
NM_006939.4(SOS2):c.2485C>T (p.Leu829Phe)
NM_006939.4(SOS2):c.2505A>G (p.Lys835=)
NM_006939.4(SOS2):c.2509A>G (p.Ile837Val) rs1469543967
NM_006939.4(SOS2):c.2531A>C (p.Glu844Ala)
NM_006939.4(SOS2):c.2539G>T (p.Val847Leu)
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.2585A>G (p.Asp862Gly)
NM_006939.4(SOS2):c.263C>T (p.Ala88Val)
NM_006939.4(SOS2):c.2654A>G (p.Asp885Gly)
NM_006939.4(SOS2):c.2667G>T (p.Glu889Asp)
NM_006939.4(SOS2):c.2668-4del rs2139556831
NM_006939.4(SOS2):c.2668G>A (p.Ala890Thr)
NM_006939.4(SOS2):c.2672T>A (p.Leu891Gln)
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.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.2774T>C (p.Val925Ala)
NM_006939.4(SOS2):c.2784T>A (p.Phe928Leu)
NM_006939.4(SOS2):c.2785+18_2785+19delinsTT
NM_006939.4(SOS2):c.2786-1G>A
NM_006939.4(SOS2):c.280A>G (p.Ile94Val)
NM_006939.4(SOS2):c.2815G>A (p.Glu939Lys)
NM_006939.4(SOS2):c.2838A>T (p.Leu946Phe)
NM_006939.4(SOS2):c.2857T>A (p.Leu953Ile)
NM_006939.4(SOS2):c.2864A>G (p.Asn955Ser)
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.2967del (p.Phe989fs)
NM_006939.4(SOS2):c.296G>A (p.Arg99Gln) rs369592322
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.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.2T>C (p.Met1Thr)
NM_006939.4(SOS2):c.3002A>G (p.Lys1001Arg)
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.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.3152C>T (p.Thr1051Ile)
NM_006939.4(SOS2):c.3165C>A (p.His1055Gln)
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.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.3247C>T (p.Pro1083Ser)
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.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.3313G>A (p.Asp1105Asn)
NM_006939.4(SOS2):c.3332C>T (p.Ser1111Phe)
NM_006939.4(SOS2):c.3337+4A>G rs924531063
NM_006939.4(SOS2):c.3341G>A (p.Ser1114Asn)
NM_006939.4(SOS2):c.3344A>G (p.Asn1115Ser)
NM_006939.4(SOS2):c.3358C>T (p.Pro1120Ser)
NM_006939.4(SOS2):c.3379+4_3379+7del rs2139510043
NM_006939.4(SOS2):c.3379+6T>C rs2139510050
NM_006939.4(SOS2):c.3383C>G (p.Ser1128Cys) rs1566815476
NM_006939.4(SOS2):c.3392G>A (p.Ser1131Asn)
NM_006939.4(SOS2):c.3395C>T (p.Ser1132Leu) rs2139472231
NM_006939.4(SOS2):c.33del (p.Phe11fs)
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.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.3452C>G (p.Pro1151Arg)
NM_006939.4(SOS2):c.3463T>A (p.Phe1155Ile)
NM_006939.4(SOS2):c.3468T>A (p.Asp1156Glu)
NM_006939.4(SOS2):c.3489+4dup
NM_006939.4(SOS2):c.3490-2dup rs2139465845
NM_006939.4(SOS2):c.3506A>T (p.Asp1169Val)
NM_006939.4(SOS2):c.3526C>A (p.Pro1176Thr)
NM_006939.4(SOS2):c.3530C>T (p.Pro1177Leu) rs1566814839
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.3593G>C (p.Gly1198Ala) rs2139465314
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.3631C>G (p.Pro1211Ala)
NM_006939.4(SOS2):c.3637_3693dup (p.Pro1231_Phe1232insProAspThrProProProValProLeuArgProProGluHisPheIleAsnCysPro)
NM_006939.4(SOS2):c.3638C>G (p.Pro1213Arg)
NM_006939.4(SOS2):c.3655G>A (p.Val1219Ile)
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.3677A>G (p.His1226Arg)
NM_006939.4(SOS2):c.3681T>A (p.Phe1227Leu)
NM_006939.4(SOS2):c.3700C>G (p.Leu1234Val)
NM_006939.4(SOS2):c.3707C>T (p.Pro1236Leu) rs1403796339
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.374A>G (p.His125Arg)
NM_006939.4(SOS2):c.3756T>G (p.Ile1252Met)
NM_006939.4(SOS2):c.3767C>A (p.Pro1256Gln)
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.3800C>T (p.Ser1267Phe)
NM_006939.4(SOS2):c.3808G>A (p.Val1270Ile)
NM_006939.4(SOS2):c.3814C>A (p.Arg1272Ser) rs1005498417
NM_006939.4(SOS2):c.3817C>T (p.Arg1273Ter)
NM_006939.4(SOS2):c.3832A>G (p.Ser1278Gly)
NM_006939.4(SOS2):c.3842A>G (p.Gln1281Arg)
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.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>T (p.Arg1312Trp)
NM_006939.4(SOS2):c.3952C>A (p.Pro1318Thr)
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.3968C>T (p.Pro1323Leu) rs886041929
NM_006939.4(SOS2):c.3980del (p.Asn1327fs)
NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg)
NM_006939.4(SOS2):c.42G>T (p.Glu14Asp)
NM_006939.4(SOS2):c.431T>A (p.Leu144Ter)
NM_006939.4(SOS2):c.439A>G (p.Asn147Asp)
NM_006939.4(SOS2):c.449T>C (p.Phe150Ser) rs1886424881
NM_006939.4(SOS2):c.460C>A (p.His154Asn)
NM_006939.4(SOS2):c.462T>G (p.His154Gln)
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.490G>A (p.Val164Met)
NM_006939.4(SOS2):c.49C>T (p.Pro17Ser) rs750929787
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+3_510+6del
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.549G>T (p.Leu183Phe) rs137961578
NM_006939.4(SOS2):c.551T>C (p.Val184Ala)
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.572C>A (p.Pro191His) rs72681869
NM_006939.4(SOS2):c.574A>C (p.Ser192Arg) 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.662T>C (p.Ile221Thr) rs2139733977
NM_006939.4(SOS2):c.674G>T (p.Arg225Leu)
NM_006939.4(SOS2):c.69G>C (p.Leu23Phe)
NM_006939.4(SOS2):c.710del (p.Pro237fs) rs2139733738
NM_006939.4(SOS2):c.714+1G>A
NM_006939.4(SOS2):c.715-12_715-8del
NM_006939.4(SOS2):c.715-18_715-17inv
NM_006939.4(SOS2):c.715-3C>T
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.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.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.83G>A (p.Arg28Gln)
NM_006939.4(SOS2):c.842T>C (p.Phe281Ser) rs1555371627
NM_006939.4(SOS2):c.858+5G>C
NM_006939.4(SOS2):c.892C>T (p.Gln298Ter)
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.932A>C (p.Lys311Thr)
NM_006939.4(SOS2):c.940G>A (p.Ala314Thr) rs1885702958
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.961C>T (p.His321Tyr)
NM_006939.4(SOS2):c.969+5A>G
NM_006939.4(SOS2):c.969+6C>T rs1194667646
NM_006939.4(SOS2):c.975T>G (p.Ile325Met) rs2139679163
NM_006939.4(SOS2):c.995C>G (p.Ala332Gly)

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.