ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome by Invitae

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 732
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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)_(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.(?_50641152)_(50778868_?)dup
NC_000014.8:g.(?_50655195)_(50655438_?)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)

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