Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.50130505G>ACA486173048SOS2c.3333C>T (p.Ser1111=)
c.3234C>T (p.Ser1078=)
c.3153C>T (p.Ser1051=)
c.3294C>T (p.Ser1098=)
14g.50130505G>CCA486173049SOS2c.3333C>G (p.Ser1111=)
c.3234C>G (p.Ser1078=)
c.3153C>G (p.Ser1051=)
c.3294C>G (p.Ser1098=)
14g.50130505G>TCA486173050SOS2c.3333C>A (p.Ser1111=)
c.3234C>A (p.Ser1078=)
c.3153C>A (p.Ser1051=)
c.3294C>A (p.Ser1098=)
14g.50130506G>ACA389640336SOS2c.3332C>T (p.Ser1111Phe)
c.3233C>T (p.Ser1078Phe)
c.3152C>T (p.Ser1051Phe)
c.3293C>T (p.Ser1098Phe)
ClinVar gnomAD v4
14g.50130506G>CCA389640337SOS2c.3332C>G (p.Ser1111Cys)
c.3233C>G (p.Ser1078Cys)
c.3152C>G (p.Ser1051Cys)
c.3293C>G (p.Ser1098Cys)
ClinVar
14g.50130506G>TCA389640338SOS2c.3332C>A (p.Ser1111Tyr)
c.3233C>A (p.Ser1078Tyr)
c.3152C>A (p.Ser1051Tyr)
c.3293C>A (p.Ser1098Tyr)
14g.50130507_50130511dupCA2624769282SOS2c.3328_3332dup (p.Cys1112AlafsTer30)
c.3229_3233dup (p.Cys1079AlafsTer30)
c.3148_3152dup (p.Cys1052AlafsTer30)
c.3289_3293dup (p.Cys1099AlafsTer30)
gnomAD v4
14g.50130507A>CCA389640341SOS2c.3331T>G (p.Ser1111Ala)
c.3232T>G (p.Ser1078Ala)
c.3151T>G (p.Ser1051Ala)
c.3292T>G (p.Ser1098Ala)
14g.50130507A>GCA389640340SOS2c.3331T>C (p.Ser1111Pro)
c.3232T>C (p.Ser1078Pro)
c.3151T>C (p.Ser1051Pro)
c.3292T>C (p.Ser1098Pro)
dbSNP
14g.50130507A>TCA389640339SOS2c.3331T>A (p.Ser1111Thr)
c.3232T>A (p.Ser1078Thr)
c.3151T>A (p.Ser1051Thr)
c.3292T>A (p.Ser1098Thr)
14g.50130508G>ACA486173051SOS2c.3330C>T (p.Ser1110=)
c.3231C>T (p.Ser1077=)
c.3150C>T (p.Ser1050=)
c.3291C>T (p.Ser1097=)
14g.50130508G>CCA7176842SOS2c.3330C>G (p.Ser1110Arg)
c.3231C>G (p.Ser1077Arg)
c.3150C>G (p.Ser1050Arg)
c.3291C>G (p.Ser1097Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.50130508G=CA2136058796SOS2c.3330C= (p.Ser1110=)
c.3231C= (p.Ser1077=)
c.3150C= (p.Ser1050=)
c.3291C= (p.Ser1097=)
14g.50130508G>TCA260713931SOS2c.3330C>A (p.Ser1110Arg)
c.3231C>A (p.Ser1077Arg)
c.3150C>A (p.Ser1050Arg)
c.3291C>A (p.Ser1097Arg)
dbSNP gnomAD v4
14g.50130509C>ACA389640342SOS2c.3329G>T (p.Ser1110Ile)
c.3230G>T (p.Ser1077Ile)
c.3149G>T (p.Ser1050Ile)
c.3290G>T (p.Ser1097Ile)
gnomAD v4
14g.50130509C>GCA389640343SOS2c.3329G>C (p.Ser1110Thr)
c.3230G>C (p.Ser1077Thr)
c.3149G>C (p.Ser1050Thr)
c.3290G>C (p.Ser1097Thr)
14g.50130509C>TCA389640344SOS2c.3329G>A (p.Ser1110Asn)
c.3230G>A (p.Ser1077Asn)
c.3149G>A (p.Ser1050Asn)
c.3290G>A (p.Ser1097Asn)
14g.50130510T>ACA389640345SOS2c.3328A>T (p.Ser1110Cys)
c.3229A>T (p.Ser1077Cys)
c.3148A>T (p.Ser1050Cys)
c.3289A>T (p.Ser1097Cys)
14g.50130510T>CCA389640346SOS2c.3328A>G (p.Ser1110Gly)
c.3229A>G (p.Ser1077Gly)
c.3148A>G (p.Ser1050Gly)
c.3289A>G (p.Ser1097Gly)
14g.50130510T>GCA389640347SOS2c.3328A>C (p.Ser1110Arg)
c.3229A>C (p.Ser1077Arg)
c.3148A>C (p.Ser1050Arg)
c.3289A>C (p.Ser1097Arg)
14g.50130511G>ACA486173052SOS2c.3327C>T (p.Asn1109=)
c.3228C>T (p.Asn1076=)
c.3147C>T (p.Asn1049=)
c.3288C>T (p.Asn1096=)
ClinVar gnomAD v4
14g.50130511G>CCA389640348SOS2c.3327C>G (p.Asn1109Lys)
c.3228C>G (p.Asn1076Lys)
c.3147C>G (p.Asn1049Lys)
c.3288C>G (p.Asn1096Lys)
14g.50130511G>TCA389640349SOS2c.3327C>A (p.Asn1109Lys)
c.3228C>A (p.Asn1076Lys)
c.3147C>A (p.Asn1049Lys)
c.3288C>A (p.Asn1096Lys)
14g.50130512T>ACA389640350SOS2c.3326A>T (p.Asn1109Ile)
c.3227A>T (p.Asn1076Ile)
c.3146A>T (p.Asn1049Ile)
c.3287A>T (p.Asn1096Ile)
14g.50130512T>CCA389640351SOS2c.3326A>G (p.Asn1109Ser)
c.3227A>G (p.Asn1076Ser)
c.3146A>G (p.Asn1049Ser)
c.3287A>G (p.Asn1096Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.50130512T>GCA389640352SOS2c.3326A>C (p.Asn1109Thr)
c.3227A>C (p.Asn1076Thr)
c.3146A>C (p.Asn1049Thr)
c.3287A>C (p.Asn1096Thr)
gnomAD v4
14g.50130512T=CA2136058797SOS2c.3326A= (p.Asn1109=)
c.3227A= (p.Asn1076=)
c.3146A= (p.Asn1049=)
c.3287A= (p.Asn1096=)
14g.50130513T>ACA389640355SOS2c.3325A>T (p.Asn1109Tyr)
c.3226A>T (p.Asn1076Tyr)
c.3145A>T (p.Asn1049Tyr)
c.3286A>T (p.Asn1096Tyr)
gnomAD v4
14g.50130513T>CCA389640353SOS2c.3325A>G (p.Asn1109Asp)
c.3226A>G (p.Asn1076Asp)
c.3145A>G (p.Asn1049Asp)
c.3286A>G (p.Asn1096Asp)
14g.50130513T>GCA389640354SOS2c.3325A>C (p.Asn1109His)
c.3226A>C (p.Asn1076His)
c.3145A>C (p.Asn1049His)
c.3286A>C (p.Asn1096His)
gnomAD v4
14g.50130514G>ACA486173053SOS2c.3324C>T (p.Leu1108=)
c.3225C>T (p.Leu1075=)
c.3144C>T (p.Leu1048=)
c.3285C>T (p.Leu1095=)
gnomAD v4
14g.50130514G>CCA260713937SOS2c.3324C>G (p.Leu1108=)
c.3225C>G (p.Leu1075=)
c.3144C>G (p.Leu1048=)
c.3285C>G (p.Leu1095=)
dbSNP
14g.50130514G=CA2136058798SOS2c.3324C= (p.Leu1108=)
c.3225C= (p.Leu1075=)
c.3144C= (p.Leu1048=)
c.3285C= (p.Leu1095=)
14g.50130514G>TCA486173054SOS2c.3324C>A (p.Leu1108=)
c.3225C>A (p.Leu1075=)
c.3144C>A (p.Leu1048=)
c.3285C>A (p.Leu1095=)
14g.50130515A>CCA389640356SOS2c.3323T>G (p.Leu1108Arg)
c.3224T>G (p.Leu1075Arg)
c.3143T>G (p.Leu1048Arg)
c.3284T>G (p.Leu1095Arg)
14g.50130515A>GCA389640357SOS2c.3323T>C (p.Leu1108Pro)
c.3224T>C (p.Leu1075Pro)
c.3143T>C (p.Leu1048Pro)
c.3284T>C (p.Leu1095Pro)
14g.50130515A>TCA389640358SOS2c.3323T>A (p.Leu1108His)
c.3224T>A (p.Leu1075His)
c.3143T>A (p.Leu1048His)
c.3284T>A (p.Leu1095His)
14g.50130516G>ACA389640359SOS2c.3322C>T (p.Leu1108Phe)
c.3223C>T (p.Leu1075Phe)
c.3142C>T (p.Leu1048Phe)
c.3283C>T (p.Leu1095Phe)
gnomAD v4
14g.50130516G>CCA389640360SOS2c.3322C>G (p.Leu1108Val)
c.3223C>G (p.Leu1075Val)
c.3142C>G (p.Leu1048Val)
c.3283C>G (p.Leu1095Val)
14g.50130516G>TCA389640361SOS2c.3322C>A (p.Leu1108Ile)
c.3223C>A (p.Leu1075Ile)
c.3142C>A (p.Leu1048Ile)
c.3283C>A (p.Leu1095Ile)
14g.50130517A>CCA389640362SOS2c.3321T>G (p.Asp1107Glu)
c.3222T>G (p.Asp1074Glu)
c.3141T>G (p.Asp1047Glu)
c.3282T>G (p.Asp1094Glu)
14g.50130517A>GCA486173055SOS2c.3321T>C (p.Asp1107=)
c.3222T>C (p.Asp1074=)
c.3141T>C (p.Asp1047=)
c.3282T>C (p.Asp1094=)
14g.50130517A>TCA389640363SOS2c.3321T>A (p.Asp1107Glu)
c.3222T>A (p.Asp1074Glu)
c.3141T>A (p.Asp1047Glu)
c.3282T>A (p.Asp1094Glu)
14g.50130518T>ACA389640364SOS2c.3320A>T (p.Asp1107Val)
c.3221A>T (p.Asp1074Val)
c.3140A>T (p.Asp1047Val)
c.3281A>T (p.Asp1094Val)
COSMIC COSMIC
14g.50130518T>CCA389640365SOS2c.3320A>G (p.Asp1107Gly)
c.3221A>G (p.Asp1074Gly)
c.3140A>G (p.Asp1047Gly)
c.3281A>G (p.Asp1094Gly)
14g.50130518T>GCA389640366SOS2c.3320A>C (p.Asp1107Ala)
c.3221A>C (p.Asp1074Ala)
c.3140A>C (p.Asp1047Ala)
c.3281A>C (p.Asp1094Ala)
gnomAD v4
14g.50130519C>ACA389640368SOS2c.3319G>T (p.Asp1107Tyr)
c.3220G>T (p.Asp1074Tyr)
c.3139G>T (p.Asp1047Tyr)
c.3280G>T (p.Asp1094Tyr)
14g.50130519C>GCA389640369SOS2c.3319G>C (p.Asp1107His)
c.3220G>C (p.Asp1074His)
c.3139G>C (p.Asp1047His)
c.3280G>C (p.Asp1094His)
14g.50130519C>TCA389640367SOS2c.3319G>A (p.Asp1107Asn)
c.3220G>A (p.Asp1074Asn)
c.3139G>A (p.Asp1047Asn)
c.3280G>A (p.Asp1094Asn)
14g.50130520C>ACA486173056SOS2c.3318G>T (p.Val1106=)
c.3219G>T (p.Val1073=)
c.3138G>T (p.Val1046=)
c.3279G>T (p.Val1093=)
14g.50130520C>GCA486173057SOS2c.3318G>C (p.Val1106=)
c.3219G>C (p.Val1073=)
c.3138G>C (p.Val1046=)
c.3279G>C (p.Val1093=)
14g.50130520C>TCA486173059SOS2c.3318G>A (p.Val1106=)
c.3219G>A (p.Val1073=)
c.3138G>A (p.Val1046=)
c.3279G>A (p.Val1093=)
14g.50130521A>CCA389640370SOS2c.3317T>G (p.Val1106Gly)
c.3218T>G (p.Val1073Gly)
c.3137T>G (p.Val1046Gly)
c.3278T>G (p.Val1093Gly)
14g.50130521A>GCA389640371SOS2c.3317T>C (p.Val1106Ala)
c.3218T>C (p.Val1073Ala)
c.3137T>C (p.Val1046Ala)
c.3278T>C (p.Val1093Ala)
14g.50130521A>TCA389640372SOS2c.3317T>A (p.Val1106Glu)
c.3218T>A (p.Val1073Glu)
c.3137T>A (p.Val1046Glu)
c.3278T>A (p.Val1093Glu)
14g.50130522C>ACA389640373SOS2c.3316G>T (p.Val1106Leu)
c.3217G>T (p.Val1073Leu)
c.3136G>T (p.Val1046Leu)
c.3277G>T (p.Val1093Leu)
14g.50130522C>GCA389640374SOS2c.3316G>C (p.Val1106Leu)
c.3217G>C (p.Val1073Leu)
c.3136G>C (p.Val1046Leu)
c.3277G>C (p.Val1093Leu)
14g.50130522C>TCA389640375SOS2c.3316G>A (p.Val1106Met)
c.3217G>A (p.Val1073Met)
c.3136G>A (p.Val1046Met)
c.3277G>A (p.Val1093Met)
14g.50130523A=CA2136058799SOS2c.3315T= (p.Asp1105=)
c.3216T= (p.Asp1072=)
c.3135T= (p.Asp1045=)
c.3276T= (p.Asp1092=)
14g.50130523A>CCA389640376SOS2c.3315T>G (p.Asp1105Glu)
c.3216T>G (p.Asp1072Glu)
c.3135T>G (p.Asp1045Glu)
c.3276T>G (p.Asp1092Glu)
dbSNP gnomAD v3 gnomAD v4
14g.50130523A>GCA486173060SOS2c.3315T>C (p.Asp1105=)
c.3216T>C (p.Asp1072=)
c.3135T>C (p.Asp1045=)
c.3276T>C (p.Asp1092=)
14g.50130523A>TCA389640377SOS2c.3315T>A (p.Asp1105Glu)
c.3216T>A (p.Asp1072Glu)
c.3135T>A (p.Asp1045Glu)
c.3276T>A (p.Asp1092Glu)
14g.50130524T>ACA389640378SOS2c.3314A>T (p.Asp1105Val)
c.3215A>T (p.Asp1072Val)
c.3134A>T (p.Asp1045Val)
c.3275A>T (p.Asp1092Val)
14g.50130524T>CCA389640379SOS2c.3314A>G (p.Asp1105Gly)
c.3215A>G (p.Asp1072Gly)
c.3134A>G (p.Asp1045Gly)
c.3275A>G (p.Asp1092Gly)
14g.50130524T>GCA389640380SOS2c.3314A>C (p.Asp1105Ala)
c.3215A>C (p.Asp1072Ala)
c.3134A>C (p.Asp1045Ala)
c.3275A>C (p.Asp1092Ala)
14g.50130525C>ACA389640381SOS2c.3313G>T (p.Asp1105Tyr)
c.3214G>T (p.Asp1072Tyr)
c.3133G>T (p.Asp1045Tyr)
c.3274G>T (p.Asp1092Tyr)
14g.50130525C=CA2136058804SOS2c.3313G= (p.Asp1105=)
c.3214G= (p.Asp1072=)
c.3133G= (p.Asp1045=)
c.3274G= (p.Asp1092=)
14g.50130525C>GCA389640382SOS2c.3313G>C (p.Asp1105His)
c.3214G>C (p.Asp1072His)
c.3133G>C (p.Asp1045His)
c.3274G>C (p.Asp1092His)
14g.50130525C>TCA389640383SOS2c.3313G>A (p.Asp1105Asn)
c.3214G>A (p.Asp1072Asn)
c.3133G>A (p.Asp1045Asn)
c.3274G>A (p.Asp1092Asn)
ClinVar dbSNP
14g.50130526T>ACA389640384SOS2c.3312A>T (p.Leu1104Phe)
c.3213A>T (p.Leu1071Phe)
c.3132A>T (p.Leu1044Phe)
c.3273A>T (p.Leu1091Phe)
14g.50130526T>CCA486173061SOS2c.3312A>G (p.Leu1104=)
c.3213A>G (p.Leu1071=)
c.3132A>G (p.Leu1044=)
c.3273A>G (p.Leu1091=)
gnomAD v4
14g.50130526T>GCA389640385SOS2c.3312A>C (p.Leu1104Phe)
c.3213A>C (p.Leu1071Phe)
c.3132A>C (p.Leu1044Phe)
c.3273A>C (p.Leu1091Phe)
14g.50130528_50130533dupCA962993851SOS2c.3307_3312dup (p.Leu1104_Asp1105insPheLeu)
c.3208_3213dup (p.Leu1071_Asp1072insPheLeu)
c.3127_3132dup (p.Leu1044_Asp1045insPheLeu)
c.3268_3273dup (p.Leu1091_Asp1092insPheLeu)
dbSNP gnomAD v3 gnomAD v4
14g.50130527A>CCA389640386SOS2c.3311T>G (p.Leu1104Ter)
c.3212T>G (p.Leu1071Ter)
c.3131T>G (p.Leu1044Ter)
c.3272T>G (p.Leu1091Ter)
14g.50130527A>GCA389640387SOS2c.3311T>C (p.Leu1104Ser)
c.3212T>C (p.Leu1071Ser)
c.3131T>C (p.Leu1044Ser)
c.3272T>C (p.Leu1091Ser)
14g.50130527A>TCA389640388SOS2c.3311T>A (p.Leu1104Ter)
c.3212T>A (p.Leu1071Ter)
c.3131T>A (p.Leu1044Ter)
c.3272T>A (p.Leu1091Ter)
14g.50130528A>CCA389640389SOS2c.3310T>G (p.Leu1104Val)
c.3211T>G (p.Leu1071Val)
c.3130T>G (p.Leu1044Val)
c.3271T>G (p.Leu1091Val)
14g.50130528A>GCA486173063SOS2c.3310T>C (p.Leu1104=)
c.3211T>C (p.Leu1071=)
c.3130T>C (p.Leu1044=)
c.3271T>C (p.Leu1091=)
14g.50130528A>TCA389640390SOS2c.3310T>A (p.Leu1104Ile)
c.3211T>A (p.Leu1071Ile)
c.3130T>A (p.Leu1044Ile)
c.3271T>A (p.Leu1091Ile)
14g.50130529A>CCA389640391SOS2c.3309T>G (p.Phe1103Leu)
c.3210T>G (p.Phe1070Leu)
c.3129T>G (p.Phe1043Leu)
c.3270T>G (p.Phe1090Leu)
14g.50130529A>GCA486173064SOS2c.3309T>C (p.Phe1103=)
c.3210T>C (p.Phe1070=)
c.3129T>C (p.Phe1043=)
c.3270T>C (p.Phe1090=)
14g.50130529A>TCA389640392SOS2c.3309T>A (p.Phe1103Leu)
c.3210T>A (p.Phe1070Leu)
c.3129T>A (p.Phe1043Leu)
c.3270T>A (p.Phe1090Leu)
14g.50130530A>CCA389640393SOS2c.3308T>G (p.Phe1103Cys)
c.3209T>G (p.Phe1070Cys)
c.3128T>G (p.Phe1043Cys)
c.3269T>G (p.Phe1090Cys)
gnomAD v4
14g.50130530A>GCA389640394SOS2c.3308T>C (p.Phe1103Ser)
c.3209T>C (p.Phe1070Ser)
c.3128T>C (p.Phe1043Ser)
c.3269T>C (p.Phe1090Ser)
14g.50130530A>TCA389640395SOS2c.3308T>A (p.Phe1103Tyr)
c.3209T>A (p.Phe1070Tyr)
c.3128T>A (p.Phe1043Tyr)
c.3269T>A (p.Phe1090Tyr)
14g.50130531A=CA2136058805SOS2c.3307T= (p.Phe1103=)
c.3208T= (p.Phe1070=)
c.3127T= (p.Phe1043=)
c.3268T= (p.Phe1090=)
14g.50130531A>CCA389640396SOS2c.3307T>G (p.Phe1103Val)
c.3208T>G (p.Phe1070Val)
c.3127T>G (p.Phe1043Val)
c.3268T>G (p.Phe1090Val)
dbSNP gnomAD v2 gnomAD v4
14g.50130531A>GCA389640397SOS2c.3307T>C (p.Phe1103Leu)
c.3208T>C (p.Phe1070Leu)
c.3127T>C (p.Phe1043Leu)
c.3268T>C (p.Phe1090Leu)
14g.50130531A>TCA389640398SOS2c.3307T>A (p.Phe1103Ile)
c.3208T>A (p.Phe1070Ile)
c.3127T>A (p.Phe1043Ile)
c.3268T>A (p.Phe1090Ile)
14g.50130532T>ACA486173065SOS2c.3306A>T (p.Val1102=)
c.3207A>T (p.Val1069=)
c.3126A>T (p.Val1042=)
c.3267A>T (p.Val1089=)
14g.50130532T>CCA486173066SOS2c.3306A>G (p.Val1102=)
c.3207A>G (p.Val1069=)
c.3126A>G (p.Val1042=)
c.3267A>G (p.Val1089=)
14g.50130532T>GCA486173067SOS2c.3306A>C (p.Val1102=)
c.3207A>C (p.Val1069=)
c.3126A>C (p.Val1042=)
c.3267A>C (p.Val1089=)
14g.50130533A>CCA389640400SOS2c.3305T>G (p.Val1102Gly)
c.3206T>G (p.Val1069Gly)
c.3125T>G (p.Val1042Gly)
c.3266T>G (p.Val1089Gly)
ClinVar
14g.50130533A>GCA389640401SOS2c.3305T>C (p.Val1102Ala)
c.3206T>C (p.Val1069Ala)
c.3125T>C (p.Val1042Ala)
c.3266T>C (p.Val1089Ala)
14g.50130533A>TCA389640399SOS2c.3305T>A (p.Val1102Glu)
c.3206T>A (p.Val1069Glu)
c.3125T>A (p.Val1042Glu)
c.3266T>A (p.Val1089Glu)
14g.50130534C>ACA389640402SOS2c.3304G>T (p.Val1102Leu)
c.3205G>T (p.Val1069Leu)
c.3124G>T (p.Val1042Leu)
c.3265G>T (p.Val1089Leu)
14g.50130534C=CA2136058807SOS2c.3304G= (p.Val1102=)
c.3205G= (p.Val1069=)
c.3124G= (p.Val1042=)
c.3265G= (p.Val1089=)
14g.50130534C>GCA389640403SOS2c.3304G>C (p.Val1102Leu)
c.3205G>C (p.Val1069Leu)
c.3124G>C (p.Val1042Leu)
c.3265G>C (p.Val1089Leu)
dbSNP
14g.50130534C>TCA7176843SOS2c.3304G>A (p.Val1102Ile)
c.3205G>A (p.Val1069Ile)
c.3124G>A (p.Val1042Ile)
c.3265G>A (p.Val1089Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50130535A=CA2136058809SOS2c.3303T= (p.Ser1101=)
c.3204T= (p.Ser1068=)
c.3123T= (p.Ser1041=)
c.3264T= (p.Ser1088=)
14g.50130535A>CCA389640404SOS2c.3303T>G (p.Ser1101Arg)
c.3204T>G (p.Ser1068Arg)
c.3123T>G (p.Ser1041Arg)
c.3264T>G (p.Ser1088Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
14g.50130535A>GCA486173068SOS2c.3303T>C (p.Ser1101=)
c.3204T>C (p.Ser1068=)
c.3123T>C (p.Ser1041=)
c.3264T>C (p.Ser1088=)
14g.50130535A>TCA389640405SOS2c.3303T>A (p.Ser1101Arg)
c.3204T>A (p.Ser1068Arg)
c.3123T>A (p.Ser1041Arg)
c.3264T>A (p.Ser1088Arg)
gnomAD v4
14g.50130536C>ACA389640408SOS2c.3302G>T (p.Ser1101Ile)
c.3203G>T (p.Ser1068Ile)
c.3122G>T (p.Ser1041Ile)
c.3263G>T (p.Ser1088Ile)
14g.50130536C=CA2136058810SOS2c.3302G= (p.Ser1101=)
c.3203G= (p.Ser1068=)
c.3122G= (p.Ser1041=)
c.3263G= (p.Ser1088=)
14g.50130536C>GCA389640407SOS2c.3302G>C (p.Ser1101Thr)
c.3203G>C (p.Ser1068Thr)
c.3122G>C (p.Ser1041Thr)
c.3263G>C (p.Ser1088Thr)
14g.50130536C>TCA389640406SOS2c.3302G>A (p.Ser1101Asn)
c.3203G>A (p.Ser1068Asn)
c.3122G>A (p.Ser1041Asn)
c.3263G>A (p.Ser1088Asn)
ClinVar dbSNP gnomAD v4
14g.50130537T>ACA389640409SOS2c.3301A>T (p.Ser1101Cys)
c.3202A>T (p.Ser1068Cys)
c.3121A>T (p.Ser1041Cys)
c.3262A>T (p.Ser1088Cys)
14g.50130537T>CCA389640410SOS2c.3301A>G (p.Ser1101Gly)
c.3202A>G (p.Ser1068Gly)
c.3121A>G (p.Ser1041Gly)
c.3262A>G (p.Ser1088Gly)
14g.50130537T>GCA389640411SOS2c.3301A>C (p.Ser1101Arg)
c.3202A>C (p.Ser1068Arg)
c.3121A>C (p.Ser1041Arg)
c.3262A>C (p.Ser1088Arg)
ClinVar
14g.50130538A>CCA486173070SOS2c.3300T>G (p.Leu1100=)
c.3201T>G (p.Leu1067=)
c.3120T>G (p.Leu1040=)
c.3261T>G (p.Leu1087=)
14g.50130538A>GCA486173071SOS2c.3300T>C (p.Leu1100=)
c.3201T>C (p.Leu1067=)
c.3120T>C (p.Leu1040=)
c.3261T>C (p.Leu1087=)
14g.50130538A>TCA486173069SOS2c.3300T>A (p.Leu1100=)
c.3201T>A (p.Leu1067=)
c.3120T>A (p.Leu1040=)
c.3261T>A (p.Leu1087=)
14g.50130539A=CA2136058811SOS2c.3299T= (p.Leu1100=)
c.3200T= (p.Leu1067=)
c.3119T= (p.Leu1040=)
c.3260T= (p.Leu1087=)
14g.50130539A>CCA260713951SOS2c.3299T>G (p.Leu1100Arg)
c.3200T>G (p.Leu1067Arg)
c.3119T>G (p.Leu1040Arg)
c.3260T>G (p.Leu1087Arg)
dbSNP
14g.50130539A>GCA389640412SOS2c.3299T>C (p.Leu1100Pro)
c.3200T>C (p.Leu1067Pro)
c.3119T>C (p.Leu1040Pro)
c.3260T>C (p.Leu1087Pro)
14g.50130539A>TCA389640413SOS2c.3299T>A (p.Leu1100His)
c.3200T>A (p.Leu1067His)
c.3119T>A (p.Leu1040His)
c.3260T>A (p.Leu1087His)
14g.50130540G>ACA389640416SOS2c.3298C>T (p.Leu1100Phe)
c.3199C>T (p.Leu1067Phe)
c.3118C>T (p.Leu1040Phe)
c.3259C>T (p.Leu1087Phe)
gnomAD v4
14g.50130540G>CCA389640414SOS2c.3298C>G (p.Leu1100Val)
c.3199C>G (p.Leu1067Val)
c.3118C>G (p.Leu1040Val)
c.3259C>G (p.Leu1087Val)
gnomAD v4
14g.50130540G>TCA389640415SOS2c.3298C>A (p.Leu1100Ile)
c.3199C>A (p.Leu1067Ile)
c.3118C>A (p.Leu1040Ile)
c.3259C>A (p.Leu1087Ile)
14g.50130541G>ACA486173072SOS2c.3297C>T (p.Asp1099=)
c.3198C>T (p.Asp1066=)
c.3117C>T (p.Asp1039=)
c.3258C>T (p.Asp1086=)
gnomAD v4
14g.50130541G>CCA389640417SOS2c.3297C>G (p.Asp1099Glu)
c.3198C>G (p.Asp1066Glu)
c.3117C>G (p.Asp1039Glu)
c.3258C>G (p.Asp1086Glu)
14g.50130541G>TCA389640418SOS2c.3297C>A (p.Asp1099Glu)
c.3198C>A (p.Asp1066Glu)
c.3117C>A (p.Asp1039Glu)
c.3258C>A (p.Asp1086Glu)
14g.50130542T>ACA389640419SOS2c.3296A>T (p.Asp1099Val)
c.3197A>T (p.Asp1066Val)
c.3116A>T (p.Asp1039Val)
c.3257A>T (p.Asp1086Val)
14g.50130542T>CCA389640420SOS2c.3296A>G (p.Asp1099Gly)
c.3197A>G (p.Asp1066Gly)
c.3116A>G (p.Asp1039Gly)
c.3257A>G (p.Asp1086Gly)
14g.50130542T>GCA389640421SOS2c.3296A>C (p.Asp1099Ala)
c.3197A>C (p.Asp1066Ala)
c.3116A>C (p.Asp1039Ala)
c.3257A>C (p.Asp1086Ala)
14g.50130543C>ACA389640423SOS2c.3295G>T (p.Asp1099Tyr)
c.3196G>T (p.Asp1066Tyr)
c.3115G>T (p.Asp1039Tyr)
c.3256G>T (p.Asp1086Tyr)
14g.50130543C=CA2136058812SOS2c.3295G= (p.Asp1099=)
c.3196G= (p.Asp1066=)
c.3115G= (p.Asp1039=)
c.3256G= (p.Asp1086=)
14g.50130543C>GCA7176844SOS2c.3295G>C (p.Asp1099His)
c.3196G>C (p.Asp1066His)
c.3115G>C (p.Asp1039His)
c.3256G>C (p.Asp1086His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50130543C>TCA389640422SOS2c.3295G>A (p.Asp1099Asn)
c.3196G>A (p.Asp1066Asn)
c.3115G>A (p.Asp1039Asn)
c.3256G>A (p.Asp1086Asn)
dbSNP gnomAD v3 gnomAD v4
14g.50130544T>ACA486173073SOS2c.3294A>T (p.Ser1098=)
c.3195A>T (p.Ser1065=)
c.3114A>T (p.Ser1038=)
c.3255A>T (p.Ser1085=)
14g.50130544T>CCA486173075SOS2c.3294A>G (p.Ser1098=)
c.3195A>G (p.Ser1065=)
c.3114A>G (p.Ser1038=)
c.3255A>G (p.Ser1085=)
14g.50130544T>GCA486173074SOS2c.3294A>C (p.Ser1098=)
c.3195A>C (p.Ser1065=)
c.3114A>C (p.Ser1038=)
c.3255A>C (p.Ser1085=)
14g.50130545G>ACA389640424SOS2c.3293C>T (p.Ser1098Leu)
c.3194C>T (p.Ser1065Leu)
c.3113C>T (p.Ser1038Leu)
c.3254C>T (p.Ser1085Leu)
14g.50130545G>CCA389640425SOS2c.3293C>G (p.Ser1098Ter)
c.3194C>G (p.Ser1065Ter)
c.3113C>G (p.Ser1038Ter)
c.3254C>G (p.Ser1085Ter)
14g.50130545G>TCA389640426SOS2c.3293C>A (p.Ser1098Ter)
c.3194C>A (p.Ser1065Ter)
c.3113C>A (p.Ser1038Ter)
c.3254C>A (p.Ser1085Ter)
14g.50130549_50130551delCA2624769283SOS2c.3291_3293del (p.Ser1098del)
c.3192_3194del (p.Ser1065del)
c.3111_3113del (p.Ser1038del)
c.3252_3254del (p.Ser1085del)
gnomAD v4
14g.50130546A>CCA389640427SOS2c.3292T>G (p.Ser1098Ala)
c.3193T>G (p.Ser1065Ala)
c.3112T>G (p.Ser1038Ala)
c.3253T>G (p.Ser1085Ala)
gnomAD v4
14g.50130546A>GCA389640428SOS2c.3292T>C (p.Ser1098Pro)
c.3193T>C (p.Ser1065Pro)
c.3112T>C (p.Ser1038Pro)
c.3253T>C (p.Ser1085Pro)
14g.50130546A>TCA389640429SOS2c.3292T>A (p.Ser1098Thr)
c.3193T>A (p.Ser1065Thr)
c.3112T>A (p.Ser1038Thr)
c.3253T>A (p.Ser1085Thr)
14g.50130547A=CA2136058813SOS2c.3291T= (p.Ser1097=)
c.3192T= (p.Ser1064=)
c.3111T= (p.Ser1037=)
c.3252T= (p.Ser1084=)
14g.50130547A>CCA486173076SOS2c.3291T>G (p.Ser1097=)
c.3192T>G (p.Ser1064=)
c.3111T>G (p.Ser1037=)
c.3252T>G (p.Ser1084=)
14g.50130547A>GCA486173077SOS2c.3291T>C (p.Ser1097=)
c.3192T>C (p.Ser1064=)
c.3111T>C (p.Ser1037=)
c.3252T>C (p.Ser1084=)
14g.50130547A>TCA486173078SOS2c.3291T>A (p.Ser1097=)
c.3192T>A (p.Ser1064=)
c.3111T>A (p.Ser1037=)
c.3252T>A (p.Ser1084=)
dbSNP
14g.50130548G>ACA389640430SOS2c.3290C>T (p.Ser1097Phe)
c.3191C>T (p.Ser1064Phe)
c.3110C>T (p.Ser1037Phe)
c.3251C>T (p.Ser1084Phe)
gnomAD v4
14g.50130548G>CCA389640432SOS2c.3290C>G (p.Ser1097Cys)
c.3191C>G (p.Ser1064Cys)
c.3110C>G (p.Ser1037Cys)
c.3251C>G (p.Ser1084Cys)
14g.50130548G>TCA389640431SOS2c.3290C>A (p.Ser1097Tyr)
c.3191C>A (p.Ser1064Tyr)
c.3110C>A (p.Ser1037Tyr)
c.3251C>A (p.Ser1084Tyr)
14g.50130549A=CA2136058814SOS2c.3289T= (p.Ser1097=)
c.3190T= (p.Ser1064=)
c.3109T= (p.Ser1037=)
c.3250T= (p.Ser1084=)
14g.50130549A>CCA389640433SOS2c.3289T>G (p.Ser1097Ala)
c.3190T>G (p.Ser1064Ala)
c.3109T>G (p.Ser1037Ala)
c.3250T>G (p.Ser1084Ala)
14g.50130549A>GCA7176845SOS2c.3289T>C (p.Ser1097Pro)
c.3190T>C (p.Ser1064Pro)
c.3109T>C (p.Ser1037Pro)
c.3250T>C (p.Ser1084Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50130549A>TCA389640434SOS2c.3289T>A (p.Ser1097Thr)
c.3190T>A (p.Ser1064Thr)
c.3109T>A (p.Ser1037Thr)
c.3250T>A (p.Ser1084Thr)
14g.50130550A>CCA486173079SOS2c.3288T>G (p.Ala1096=)
c.3189T>G (p.Ala1063=)
c.3108T>G (p.Ala1036=)
c.3249T>G (p.Ala1083=)
14g.50130550A>GCA486173080SOS2c.3288T>C (p.Ala1096=)
c.3189T>C (p.Ala1063=)
c.3108T>C (p.Ala1036=)
c.3249T>C (p.Ala1083=)
gnomAD v4
14g.50130550A>TCA486173081SOS2c.3288T>A (p.Ala1096=)
c.3189T>A (p.Ala1063=)
c.3108T>A (p.Ala1036=)
c.3249T>A (p.Ala1083=)
14g.50130551G>ACA389640435SOS2c.3287C>T (p.Ala1096Val)
c.3188C>T (p.Ala1063Val)
c.3107C>T (p.Ala1036Val)
c.3248C>T (p.Ala1083Val)
14g.50130551G>CCA389640436SOS2c.3287C>G (p.Ala1096Gly)
c.3188C>G (p.Ala1063Gly)
c.3107C>G (p.Ala1036Gly)
c.3248C>G (p.Ala1083Gly)
14g.50130551G>TCA389640437SOS2c.3287C>A (p.Ala1096Asp)
c.3188C>A (p.Ala1063Asp)
c.3107C>A (p.Ala1036Asp)
c.3248C>A (p.Ala1083Asp)
14g.50130552C>ACA389640438SOS2c.3286G>T (p.Ala1096Ser)
c.3187G>T (p.Ala1063Ser)
c.3106G>T (p.Ala1036Ser)
c.3247G>T (p.Ala1083Ser)
14g.50130552C=CA2136058815SOS2c.3286G= (p.Ala1096=)
c.3187G= (p.Ala1063=)
c.3106G= (p.Ala1036=)
c.3247G= (p.Ala1083=)
14g.50130552C>GCA389640439SOS2c.3286G>C (p.Ala1096Pro)
c.3187G>C (p.Ala1063Pro)
c.3106G>C (p.Ala1036Pro)
c.3247G>C (p.Ala1083Pro)
dbSNP
14g.50130552C>TCA389640440SOS2c.3286G>A (p.Ala1096Thr)
c.3187G>A (p.Ala1063Thr)
c.3106G>A (p.Ala1036Thr)
c.3247G>A (p.Ala1083Thr)
ClinVar dbSNP
14g.50130553A>CCA486173082SOS2c.3285T>G (p.Ser1095=)
c.3186T>G (p.Ser1062=)
c.3105T>G (p.Ser1035=)
c.3246T>G (p.Ser1082=)
14g.50130553A>GCA486173083SOS2c.3285T>C (p.Ser1095=)
c.3186T>C (p.Ser1062=)
c.3105T>C (p.Ser1035=)
c.3246T>C (p.Ser1082=)
14g.50130553A>TCA486173084SOS2c.3285T>A (p.Ser1095=)
c.3186T>A (p.Ser1062=)
c.3105T>A (p.Ser1035=)
c.3246T>A (p.Ser1082=)
14g.50130554G>ACA389640441SOS2c.3284C>T (p.Ser1095Phe)
c.3185C>T (p.Ser1062Phe)
c.3104C>T (p.Ser1035Phe)
c.3245C>T (p.Ser1082Phe)
gnomAD v4
14g.50130554G>CCA7176846SOS2c.3284C>G (p.Ser1095Cys)
c.3185C>G (p.Ser1062Cys)
c.3104C>G (p.Ser1035Cys)
c.3245C>G (p.Ser1082Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.50130554G=CA2136058816SOS2c.3284C= (p.Ser1095=)
c.3185C= (p.Ser1062=)
c.3104C= (p.Ser1035=)
c.3245C= (p.Ser1082=)
14g.50130554G>TCA389640442SOS2c.3284C>A (p.Ser1095Tyr)
c.3185C>A (p.Ser1062Tyr)
c.3104C>A (p.Ser1035Tyr)
c.3245C>A (p.Ser1082Tyr)
14g.50130555A>CCA389640444SOS2c.3283T>G (p.Ser1095Ala)
c.3184T>G (p.Ser1062Ala)
c.3103T>G (p.Ser1035Ala)
c.3244T>G (p.Ser1082Ala)
14g.50130555A>GCA389640445SOS2c.3283T>C (p.Ser1095Pro)
c.3184T>C (p.Ser1062Pro)
c.3103T>C (p.Ser1035Pro)
c.3244T>C (p.Ser1082Pro)
14g.50130555A>TCA389640443SOS2c.3283T>A (p.Ser1095Thr)
c.3184T>A (p.Ser1062Thr)
c.3103T>A (p.Ser1035Thr)
c.3244T>A (p.Ser1082Thr)
14g.50130556T>ACA486173086SOS2c.3282A>T (p.Val1094=)
c.3183A>T (p.Val1061=)
c.3102A>T (p.Val1034=)
c.3243A>T (p.Val1081=)
gnomAD v4
14g.50130556T>CCA486173088SOS2c.3282A>G (p.Val1094=)
c.3183A>G (p.Val1061=)
c.3102A>G (p.Val1034=)
c.3243A>G (p.Val1081=)
14g.50130556T>GCA486173089SOS2c.3282A>C (p.Val1094=)
c.3183A>C (p.Val1061=)
c.3102A>C (p.Val1034=)
c.3243A>C (p.Val1081=)
14g.50130557A>CCA389640446SOS2c.3281T>G (p.Val1094Gly)
c.3182T>G (p.Val1061Gly)
c.3101T>G (p.Val1034Gly)
c.3242T>G (p.Val1081Gly)
14g.50130557A>GCA389640447SOS2c.3281T>C (p.Val1094Ala)
c.3182T>C (p.Val1061Ala)
c.3101T>C (p.Val1034Ala)
c.3242T>C (p.Val1081Ala)
14g.50130557A>TCA389640448SOS2c.3281T>A (p.Val1094Glu)
c.3182T>A (p.Val1061Glu)
c.3101T>A (p.Val1034Glu)
c.3242T>A (p.Val1081Glu)
14g.50130558C>ACA389640449SOS2c.3280G>T (p.Val1094Leu)
c.3181G>T (p.Val1061Leu)
c.3100G>T (p.Val1034Leu)
c.3241G>T (p.Val1081Leu)
14g.50130558C>GCA389640450SOS2c.3280G>C (p.Val1094Leu)
c.3181G>C (p.Val1061Leu)
c.3100G>C (p.Val1034Leu)
c.3241G>C (p.Val1081Leu)
14g.50130558C>TCA389640451SOS2c.3280G>A (p.Val1094Ile)
c.3181G>A (p.Val1061Ile)
c.3100G>A (p.Val1034Ile)
c.3241G>A (p.Val1081Ile)
14g.50130559T>ACA486173091SOS2c.3279A>T (p.Pro1093=)
c.3180A>T (p.Pro1060=)
c.3099A>T (p.Pro1033=)
c.3240A>T (p.Pro1080=)
14g.50130559T>CCA486173090SOS2c.3279A>G (p.Pro1093=)
c.3180A>G (p.Pro1060=)
c.3099A>G (p.Pro1033=)
c.3240A>G (p.Pro1080=)
gnomAD v4
14g.50130559T>GCA260714002SOS2c.3279A>C (p.Pro1093=)
c.3180A>C (p.Pro1060=)
c.3099A>C (p.Pro1033=)
c.3240A>C (p.Pro1080=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.50130559T=CA2136058817SOS2c.3279A= (p.Pro1093=)
c.3180A= (p.Pro1060=)
c.3099A= (p.Pro1033=)
c.3240A= (p.Pro1080=)
14g.50130560G>ACA389640452SOS2c.3278C>T (p.Pro1093Leu)
c.3179C>T (p.Pro1060Leu)
c.3098C>T (p.Pro1033Leu)
c.3239C>T (p.Pro1080Leu)
gnomAD v4
14g.50130560G>CCA389640453SOS2c.3278C>G (p.Pro1093Arg)
c.3179C>G (p.Pro1060Arg)
c.3098C>G (p.Pro1033Arg)
c.3239C>G (p.Pro1080Arg)
14g.50130560G>TCA389640454SOS2c.3278C>A (p.Pro1093Gln)
c.3179C>A (p.Pro1060Gln)
c.3098C>A (p.Pro1033Gln)
c.3239C>A (p.Pro1080Gln)
dbSNP gnomAD v4
14g.50130561G>ACA7176848SOS2c.3277C>T (p.Pro1093Ser)
c.3178C>T (p.Pro1060Ser)
c.3097C>T (p.Pro1033Ser)
c.3238C>T (p.Pro1080Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50130561G>CCA7176847SOS2c.3277C>G (p.Pro1093Ala)
c.3178C>G (p.Pro1060Ala)
c.3097C>G (p.Pro1033Ala)
c.3238C>G (p.Pro1080Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.50130561G=CA2136058818SOS2c.3277C= (p.Pro1093=)
c.3178C= (p.Pro1060=)
c.3097C= (p.Pro1033=)
c.3238C= (p.Pro1080=)
14g.50130561G>TCA389640455SOS2c.3277C>A (p.Pro1093Thr)
c.3178C>A (p.Pro1060Thr)
c.3097C>A (p.Pro1033Thr)
c.3238C>A (p.Pro1080Thr)
14g.50130562T>ACA486173092SOS2c.3276A>T (p.Pro1092=)
c.3177A>T (p.Pro1059=)
c.3096A>T (p.Pro1032=)
c.3237A>T (p.Pro1079=)
14g.50130562T>CCA486173093SOS2c.3276A>G (p.Pro1092=)
c.3177A>G (p.Pro1059=)
c.3096A>G (p.Pro1032=)
c.3237A>G (p.Pro1079=)
14g.50130562T>GCA486173094SOS2c.3276A>C (p.Pro1092=)
c.3177A>C (p.Pro1059=)
c.3096A>C (p.Pro1032=)
c.3237A>C (p.Pro1079=)
ClinVar gnomAD v4
14g.50130563G>ACA389640456SOS2c.3275C>T (p.Pro1092Leu)
c.3176C>T (p.Pro1059Leu)
c.3095C>T (p.Pro1032Leu)
c.3236C>T (p.Pro1079Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.50130563G>CCA389640458SOS2c.3275C>G (p.Pro1092Arg)
c.3176C>G (p.Pro1059Arg)
c.3095C>G (p.Pro1032Arg)
c.3236C>G (p.Pro1079Arg)
14g.50130563G=CA2136058819SOS2c.3275C= (p.Pro1092=)
c.3176C= (p.Pro1059=)
c.3095C= (p.Pro1032=)
c.3236C= (p.Pro1079=)
14g.50130563G>TCA389640457SOS2c.3275C>A (p.Pro1092Gln)
c.3176C>A (p.Pro1059Gln)
c.3095C>A (p.Pro1032Gln)
c.3236C>A (p.Pro1079Gln)
14g.50130564G>ACA389640459SOS2c.3274C>T (p.Pro1092Ser)
c.3175C>T (p.Pro1059Ser)
c.3094C>T (p.Pro1032Ser)
c.3235C>T (p.Pro1079Ser)
gnomAD v4
14g.50130564G>CCA389640462SOS2c.3274C>G (p.Pro1092Ala)
c.3175C>G (p.Pro1059Ala)
c.3094C>G (p.Pro1032Ala)
c.3235C>G (p.Pro1079Ala)
14g.50130564G>TCA389640460SOS2c.3274C>A (p.Pro1092Thr)
c.3175C>A (p.Pro1059Thr)
c.3094C>A (p.Pro1032Thr)
c.3235C>A (p.Pro1079Thr)
14g.50130565A>CCA486173096SOS2c.3273T>G (p.Thr1091=)
c.3174T>G (p.Thr1058=)
c.3093T>G (p.Thr1031=)
c.3234T>G (p.Thr1078=)
14g.50130565A>GCA486173097SOS2c.3273T>C (p.Thr1091=)
c.3174T>C (p.Thr1058=)
c.3093T>C (p.Thr1031=)
c.3234T>C (p.Thr1078=)
gnomAD v4
14g.50130565A>TCA486173098SOS2c.3273T>A (p.Thr1091=)
c.3174T>A (p.Thr1058=)
c.3093T>A (p.Thr1031=)
c.3234T>A (p.Thr1078=)
14g.50130566G>ACA389640463SOS2c.3272C>T (p.Thr1091Ile)
c.3173C>T (p.Thr1058Ile)
c.3092C>T (p.Thr1031Ile)
c.3233C>T (p.Thr1078Ile)
dbSNP gnomAD v4
14g.50130566G>CCA389640464SOS2c.3272C>G (p.Thr1091Ser)
c.3173C>G (p.Thr1058Ser)
c.3092C>G (p.Thr1031Ser)
c.3233C>G (p.Thr1078Ser)
14g.50130566G=CA2136058820SOS2c.3272C= (p.Thr1091=)
c.3173C= (p.Thr1058=)
c.3092C= (p.Thr1031=)
c.3233C= (p.Thr1078=)
14g.50130566G>TCA389640465SOS2c.3272C>A (p.Thr1091Asn)
c.3173C>A (p.Thr1058Asn)
c.3092C>A (p.Thr1031Asn)
c.3233C>A (p.Thr1078Asn)
14g.50130567T>ACA389640467SOS2c.3271A>T (p.Thr1091Ser)
c.3172A>T (p.Thr1058Ser)
c.3091A>T (p.Thr1031Ser)
c.3232A>T (p.Thr1078Ser)
ClinVar dbSNP gnomAD v4
14g.50130567T>CCA389640469SOS2c.3271A>G (p.Thr1091Ala)
c.3172A>G (p.Thr1058Ala)
c.3091A>G (p.Thr1031Ala)
c.3232A>G (p.Thr1078Ala)
ClinVar dbSNP
14g.50130567T>GCA389640471SOS2c.3271A>C (p.Thr1091Pro)
c.3172A>C (p.Thr1058Pro)
c.3091A>C (p.Thr1031Pro)
c.3232A>C (p.Thr1078Pro)
14g.50130567T=CA2136058821SOS2c.3271A= (p.Thr1091=)
c.3172A= (p.Thr1058=)
c.3091A= (p.Thr1031=)
c.3232A= (p.Thr1078=)
14g.50130568A>CCA486173100SOS2c.3270T>G (p.Ser1090=)
c.3171T>G (p.Ser1057=)
c.3090T>G (p.Ser1030=)
c.3231T>G (p.Ser1077=)
14g.50130568A>GCA486173101SOS2c.3270T>C (p.Ser1090=)
c.3171T>C (p.Ser1057=)
c.3090T>C (p.Ser1030=)
c.3231T>C (p.Ser1077=)
14g.50130568A>TCA486173102SOS2c.3270T>A (p.Ser1090=)
c.3171T>A (p.Ser1057=)
c.3090T>A (p.Ser1030=)
c.3231T>A (p.Ser1077=)
gnomAD v4
14g.50130569G>ACA389640473SOS2c.3269C>T (p.Ser1090Phe)
c.3170C>T (p.Ser1057Phe)
c.3089C>T (p.Ser1030Phe)
c.3230C>T (p.Ser1077Phe)
gnomAD v4
14g.50130569G>CCA389640475SOS2c.3269C>G (p.Ser1090Cys)
c.3170C>G (p.Ser1057Cys)
c.3089C>G (p.Ser1030Cys)
c.3230C>G (p.Ser1077Cys)
gnomAD v4
14g.50130569G>TCA389640476SOS2c.3269C>A (p.Ser1090Tyr)
c.3170C>A (p.Ser1057Tyr)
c.3089C>A (p.Ser1030Tyr)
c.3230C>A (p.Ser1077Tyr)
14g.50130570A>CCA389640478SOS2c.3268T>G (p.Ser1090Ala)
c.3169T>G (p.Ser1057Ala)
c.3088T>G (p.Ser1030Ala)
c.3229T>G (p.Ser1077Ala)
14g.50130570A>GCA389640479SOS2c.3268T>C (p.Ser1090Pro)
c.3169T>C (p.Ser1057Pro)
c.3088T>C (p.Ser1030Pro)
c.3229T>C (p.Ser1077Pro)
14g.50130570A>TCA389640481SOS2c.3268T>A (p.Ser1090Thr)
c.3169T>A (p.Ser1057Thr)
c.3088T>A (p.Ser1030Thr)
c.3229T>A (p.Ser1077Thr)
14g.50130571T>ACA486173105SOS2c.3267A>T (p.Pro1089=)
c.3168A>T (p.Pro1056=)
c.3087A>T (p.Pro1029=)
c.3228A>T (p.Pro1076=)
14g.50130571T>CCA7176849SOS2c.3267A>G (p.Pro1089=)
c.3168A>G (p.Pro1056=)
c.3087A>G (p.Pro1029=)
c.3228A>G (p.Pro1076=)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
14g.50130571T>GCA486173104SOS2c.3267A>C (p.Pro1089=)
c.3168A>C (p.Pro1056=)
c.3087A>C (p.Pro1029=)
c.3228A>C (p.Pro1076=)
dbSNP gnomAD v2 gnomAD v4
14g.50130571T=CA2136058822SOS2c.3267A= (p.Pro1089=)
c.3168A= (p.Pro1056=)
c.3087A= (p.Pro1029=)
c.3228A= (p.Pro1076=)
14g.50130572G>ACA389640484SOS2c.3266C>T (p.Pro1089Leu)
c.3167C>T (p.Pro1056Leu)
c.3086C>T (p.Pro1029Leu)
c.3227C>T (p.Pro1076Leu)
dbSNP gnomAD v2 gnomAD v4
14g.50130572G>CCA389640486SOS2c.3266C>G (p.Pro1089Arg)
c.3167C>G (p.Pro1056Arg)
c.3086C>G (p.Pro1029Arg)
c.3227C>G (p.Pro1076Arg)
14g.50130572G=CA2136058823SOS2c.3266C= (p.Pro1089=)
c.3167C= (p.Pro1056=)
c.3086C= (p.Pro1029=)
c.3227C= (p.Pro1076=)
14g.50130572G>TCA389640487SOS2c.3266C>A (p.Pro1089Gln)
c.3167C>A (p.Pro1056Gln)
c.3086C>A (p.Pro1029Gln)
c.3227C>A (p.Pro1076Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
14g.50130573G>ACA389640488SOS2c.3265C>T (p.Pro1089Ser)
c.3166C>T (p.Pro1056Ser)
c.3085C>T (p.Pro1029Ser)
c.3226C>T (p.Pro1076Ser)
gnomAD v4
14g.50130573G>CCA389640489SOS2c.3265C>G (p.Pro1089Ala)
c.3166C>G (p.Pro1056Ala)
c.3085C>G (p.Pro1029Ala)
c.3226C>G (p.Pro1076Ala)
14g.50130573G>TCA389640490SOS2c.3265C>A (p.Pro1089Thr)
c.3166C>A (p.Pro1056Thr)
c.3085C>A (p.Pro1029Thr)
c.3226C>A (p.Pro1076Thr)
14g.50130574T>ACA486173110SOS2c.3264A>T (p.Thr1088=)
c.3165A>T (p.Thr1055=)
c.3084A>T (p.Thr1028=)
c.3225A>T (p.Thr1075=)
14g.50130574T>CCA486173109SOS2c.3264A>G (p.Thr1088=)
c.3165A>G (p.Thr1055=)
c.3084A>G (p.Thr1028=)
c.3225A>G (p.Thr1075=)
14g.50130574T>GCA486173108SOS2c.3264A>C (p.Thr1088=)
c.3165A>C (p.Thr1055=)
c.3084A>C (p.Thr1028=)
c.3225A>C (p.Thr1075=)
14g.50130575G>ACA7176850SOS2c.3263C>T (p.Thr1088Ile)
c.3164C>T (p.Thr1055Ile)
c.3083C>T (p.Thr1028Ile)
c.3224C>T (p.Thr1075Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50130575G>CCA389640491SOS2c.3263C>G (p.Thr1088Arg)
c.3164C>G (p.Thr1055Arg)
c.3083C>G (p.Thr1028Arg)
c.3224C>G (p.Thr1075Arg)
14g.50130575G=CA2136058824SOS2c.3263C= (p.Thr1088=)
c.3164C= (p.Thr1055=)
c.3083C= (p.Thr1028=)
c.3224C= (p.Thr1075=)
14g.50130575G>TCA389640493SOS2c.3263C>A (p.Thr1088Lys)
c.3164C>A (p.Thr1055Lys)
c.3083C>A (p.Thr1028Lys)
c.3224C>A (p.Thr1075Lys)
14g.50130576T>ACA389640495SOS2c.3262A>T (p.Thr1088Ser)
c.3163A>T (p.Thr1055Ser)
c.3082A>T (p.Thr1028Ser)
c.3223A>T (p.Thr1075Ser)
14g.50130576T>CCA260714041SOS2c.3262A>G (p.Thr1088Ala)
c.3163A>G (p.Thr1055Ala)
c.3082A>G (p.Thr1028Ala)
c.3223A>G (p.Thr1075Ala)
dbSNP gnomAD v3 gnomAD v4
14g.50130576T>GCA389640498SOS2c.3262A>C (p.Thr1088Pro)
c.3163A>C (p.Thr1055Pro)
c.3082A>C (p.Thr1028Pro)
c.3223A>C (p.Thr1075Pro)
gnomAD v4
14g.50130576T=CA2136058825SOS2c.3262A= (p.Thr1088=)
c.3163A= (p.Thr1055=)
c.3082A= (p.Thr1028=)
c.3223A= (p.Thr1075=)
14g.50130577A>CCA389640500SOS2c.3261T>G (p.Asn1087Lys)
c.3162T>G (p.Asn1054Lys)
c.3081T>G (p.Asn1027Lys)
c.3222T>G (p.Asn1074Lys)
14g.50130577A>GCA486173112SOS2c.3261T>C (p.Asn1087=)
c.3162T>C (p.Asn1054=)
c.3081T>C (p.Asn1027=)
c.3222T>C (p.Asn1074=)
14g.50130577A>TCA389640502SOS2c.3261T>A (p.Asn1087Lys)
c.3162T>A (p.Asn1054Lys)
c.3081T>A (p.Asn1027Lys)
c.3222T>A (p.Asn1074Lys)
14g.50130578T>ACA389640504SOS2c.3260A>T (p.Asn1087Ile)
c.3161A>T (p.Asn1054Ile)
c.3080A>T (p.Asn1027Ile)
c.3221A>T (p.Asn1074Ile)
14g.50130578T>CCA389640508SOS2c.3260A>G (p.Asn1087Ser)
c.3161A>G (p.Asn1054Ser)
c.3080A>G (p.Asn1027Ser)
c.3221A>G (p.Asn1074Ser)
ClinVar dbSNP gnomAD v4
14g.50130578T>GCA389640506SOS2c.3260A>C (p.Asn1087Thr)
c.3161A>C (p.Asn1054Thr)
c.3080A>C (p.Asn1027Thr)
c.3221A>C (p.Asn1074Thr)
14g.50130578T=CA2136058826SOS2c.3260A= (p.Asn1087=)
c.3161A= (p.Asn1054=)
c.3080A= (p.Asn1027=)
c.3221A= (p.Asn1074=)
14g.50130579T>ACA389640510SOS2c.3259A>T (p.Asn1087Tyr)
c.3160A>T (p.Asn1054Tyr)
c.3079A>T (p.Asn1027Tyr)
c.3220A>T (p.Asn1074Tyr)
14g.50130579T>CCA389640512SOS2c.3259A>G (p.Asn1087Asp)
c.3160A>G (p.Asn1054Asp)
c.3079A>G (p.Asn1027Asp)
c.3220A>G (p.Asn1074Asp)
14g.50130579T>GCA389640514SOS2c.3259A>C (p.Asn1087His)
c.3160A>C (p.Asn1054His)
c.3079A>C (p.Asn1027His)
c.3220A>C (p.Asn1074His)
14g.50130580T>ACA486173113SOS2c.3258A>T (p.Pro1086=)
c.3159A>T (p.Pro1053=)
c.3078A>T (p.Pro1026=)
c.3219A>T (p.Pro1073=)
14g.50130580T>CCA486173114SOS2c.3258A>G (p.Pro1086=)
c.3159A>G (p.Pro1053=)
c.3078A>G (p.Pro1026=)
c.3219A>G (p.Pro1073=)
gnomAD v4
14g.50130580T>GCA486173115SOS2c.3258A>C (p.Pro1086=)
c.3159A>C (p.Pro1053=)
c.3078A>C (p.Pro1026=)
c.3219A>C (p.Pro1073=)
14g.50130581G>ACA389640516SOS2c.3257C>T (p.Pro1086Leu)
c.3158C>T (p.Pro1053Leu)
c.3077C>T (p.Pro1026Leu)
c.3218C>T (p.Pro1073Leu)
dbSNP
14g.50130581G>CCA389640518SOS2c.3257C>G (p.Pro1086Arg)
c.3158C>G (p.Pro1053Arg)
c.3077C>G (p.Pro1026Arg)
c.3218C>G (p.Pro1073Arg)
14g.50130581G=CA2136058827SOS2c.3257C= (p.Pro1086=)
c.3158C= (p.Pro1053=)
c.3077C= (p.Pro1026=)
c.3218C= (p.Pro1073=)
14g.50130581G>TCA389640520SOS2c.3257C>A (p.Pro1086Gln)
c.3158C>A (p.Pro1053Gln)
c.3077C>A (p.Pro1026Gln)
c.3218C>A (p.Pro1073Gln)
14g.50130582G>ACA7176851SOS2c.3256C>T (p.Pro1086Ser)
c.3157C>T (p.Pro1053Ser)
c.3076C>T (p.Pro1026Ser)
c.3217C>T (p.Pro1073Ser)
ClinVar dbSNP ExAC
14g.50130582G>CCA389640523SOS2c.3256C>G (p.Pro1086Ala)
c.3157C>G (p.Pro1053Ala)
c.3076C>G (p.Pro1026Ala)
c.3217C>G (p.Pro1073Ala)
14g.50130582G=CA2136058828SOS2c.3256C= (p.Pro1086=)
c.3157C= (p.Pro1053=)
c.3076C= (p.Pro1026=)
c.3217C= (p.Pro1073=)
14g.50130582G>TCA389640525SOS2c.3256C>A (p.Pro1086Thr)
c.3157C>A (p.Pro1053Thr)
c.3076C>A (p.Pro1026Thr)
c.3217C>A (p.Pro1073Thr)
14g.50130583A>CCA486173118SOS2c.3255T>G (p.Ser1085=)
c.3156T>G (p.Ser1052=)
c.3075T>G (p.Ser1025=)
c.3216T>G (p.Ser1072=)
14g.50130583A>GCA486173119SOS2c.3255T>C (p.Ser1085=)
c.3156T>C (p.Ser1052=)
c.3075T>C (p.Ser1025=)
c.3216T>C (p.Ser1072=)
14g.50130583A>TCA486173120SOS2c.3255T>A (p.Ser1085=)
c.3156T>A (p.Ser1052=)
c.3075T>A (p.Ser1025=)
c.3216T>A (p.Ser1072=)
14g.50130584G>ACA389640527SOS2c.3254C>T (p.Ser1085Phe)
c.3155C>T (p.Ser1052Phe)
c.3074C>T (p.Ser1025Phe)
c.3215C>T (p.Ser1072Phe)
dbSNP
14g.50130584G>CCA389640529SOS2c.3254C>G (p.Ser1085Cys)
c.3155C>G (p.Ser1052Cys)
c.3074C>G (p.Ser1025Cys)
c.3215C>G (p.Ser1072Cys)
14g.50130584G=CA2136058829SOS2c.3254C= (p.Ser1085=)
c.3155C= (p.Ser1052=)
c.3074C= (p.Ser1025=)
c.3215C= (p.Ser1072=)
14g.50130584G>TCA389640531SOS2c.3254C>A (p.Ser1085Tyr)
c.3155C>A (p.Ser1052Tyr)
c.3074C>A (p.Ser1025Tyr)
c.3215C>A (p.Ser1072Tyr)
14g.50130585A>CCA389640538SOS2c.3253T>G (p.Ser1085Ala)
c.3154T>G (p.Ser1052Ala)
c.3073T>G (p.Ser1025Ala)
c.3214T>G (p.Ser1072Ala)
14g.50130585A>GCA389640533SOS2c.3253T>C (p.Ser1085Pro)
c.3154T>C (p.Ser1052Pro)
c.3073T>C (p.Ser1025Pro)
c.3214T>C (p.Ser1072Pro)
14g.50130585A>TCA389640535SOS2c.3253T>A (p.Ser1085Thr)
c.3154T>A (p.Ser1052Thr)
c.3073T>A (p.Ser1025Thr)
c.3214T>A (p.Ser1072Thr)
14g.50130586G>ACA486173124SOS2c.3252C>T (p.Thr1084=)
c.3153C>T (p.Thr1051=)
c.3072C>T (p.Thr1024=)
c.3213C>T (p.Thr1071=)
14g.50130586G>CCA486173125SOS2c.3252C>G (p.Thr1084=)
c.3153C>G (p.Thr1051=)
c.3072C>G (p.Thr1024=)
c.3213C>G (p.Thr1071=)
gnomAD v4
14g.50130586G>TCA486173126SOS2c.3252C>A (p.Thr1084=)
c.3153C>A (p.Thr1051=)
c.3072C>A (p.Thr1024=)
c.3213C>A (p.Thr1071=)
14g.50130587G>ACA389640540SOS2c.3251C>T (p.Thr1084Ile)
c.3152C>T (p.Thr1051Ile)
c.3071C>T (p.Thr1024Ile)
c.3212C>T (p.Thr1071Ile)
ClinVar
14g.50130587G>CCA389640542SOS2c.3251C>G (p.Thr1084Ser)
c.3152C>G (p.Thr1051Ser)
c.3071C>G (p.Thr1024Ser)
c.3212C>G (p.Thr1071Ser)
14g.50130587G>TCA389640545SOS2c.3251C>A (p.Thr1084Asn)
c.3152C>A (p.Thr1051Asn)
c.3071C>A (p.Thr1024Asn)
c.3212C>A (p.Thr1071Asn)
14g.50130588T>ACA389640546SOS2c.3250A>T (p.Thr1084Ser)
c.3151A>T (p.Thr1051Ser)
c.3070A>T (p.Thr1024Ser)
c.3211A>T (p.Thr1071Ser)
14g.50130588T>CCA7176852SOS2c.3250A>G (p.Thr1084Ala)
c.3151A>G (p.Thr1051Ala)
c.3070A>G (p.Thr1024Ala)
c.3211A>G (p.Thr1071Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50130588T>GCA260714055SOS2c.3250A>C (p.Thr1084Pro)
c.3151A>C (p.Thr1051Pro)
c.3070A>C (p.Thr1024Pro)
c.3211A>C (p.Thr1071Pro)
ClinVar dbSNP gnomAD v4
14g.50130588T=CA2136058830SOS2c.3250A= (p.Thr1084=)
c.3151A= (p.Thr1051=)
c.3070A= (p.Thr1024=)
c.3211A= (p.Thr1071=)
14g.50130589T>ACA486173237SOS2c.3249A>T (p.Pro1083=)
c.3150A>T (p.Pro1050=)
c.3069A>T (p.Pro1023=)
c.3210A>T (p.Pro1070=)
COSMIC COSMIC
14g.50130589T>CCA486173238SOS2c.3249A>G (p.Pro1083=)
c.3150A>G (p.Pro1050=)
c.3069A>G (p.Pro1023=)
c.3210A>G (p.Pro1070=)
dbSNP gnomAD v2 gnomAD v4
14g.50130589T>GCA486173239SOS2c.3249A>C (p.Pro1083=)
c.3150A>C (p.Pro1050=)
c.3069A>C (p.Pro1023=)
c.3210A>C (p.Pro1070=)
14g.50130589T=CA2136058831SOS2c.3249A= (p.Pro1083=)
c.3150A= (p.Pro1050=)
c.3069A= (p.Pro1023=)
c.3210A= (p.Pro1070=)
14g.50130590G>ACA389640550SOS2c.3248C>T (p.Pro1083Leu)
c.3149C>T (p.Pro1050Leu)
c.3068C>T (p.Pro1023Leu)
c.3209C>T (p.Pro1070Leu)
14g.50130590G>CCA389640552SOS2c.3248C>G (p.Pro1083Arg)
c.3149C>G (p.Pro1050Arg)
c.3068C>G (p.Pro1023Arg)
c.3209C>G (p.Pro1070Arg)
14g.50130590G>TCA389640555SOS2c.3248C>A (p.Pro1083Gln)
c.3149C>A (p.Pro1050Gln)
c.3068C>A (p.Pro1023Gln)
c.3209C>A (p.Pro1070Gln)
14g.50130591G>ACA389640556SOS2c.3247C>T (p.Pro1083Ser)
c.3148C>T (p.Pro1050Ser)
c.3067C>T (p.Pro1023Ser)
c.3208C>T (p.Pro1070Ser)
ClinVar dbSNP gnomAD v4
14g.50130591G>CCA260714059SOS2c.3247C>G (p.Pro1083Ala)
c.3148C>G (p.Pro1050Ala)
c.3067C>G (p.Pro1023Ala)
c.3208C>G (p.Pro1070Ala)
dbSNP
14g.50130591G=CA2136058832SOS2c.3247C= (p.Pro1083=)
c.3148C= (p.Pro1050=)
c.3067C= (p.Pro1023=)
c.3208C= (p.Pro1070=)
14g.50130591G>TCA389640560SOS2c.3247C>A (p.Pro1083Thr)
c.3148C>A (p.Pro1050Thr)
c.3067C>A (p.Pro1023Thr)
c.3208C>A (p.Pro1070Thr)
14g.50130592T>ACA486173241SOS2c.3246A>T (p.Ala1082=)
c.3147A>T (p.Ala1049=)
c.3066A>T (p.Ala1022=)
c.3207A>T (p.Ala1069=)
14g.50130592T>CCA486173242SOS2c.3246A>G (p.Ala1082=)
c.3147A>G (p.Ala1049=)
c.3066A>G (p.Ala1022=)
c.3207A>G (p.Ala1069=)
gnomAD v4
14g.50130592T>GCA7176853SOS2c.3246A>C (p.Ala1082=)
c.3147A>C (p.Ala1049=)
c.3066A>C (p.Ala1022=)
c.3207A>C (p.Ala1069=)
dbSNP ExAC
14g.50130592T=CA2136058833SOS2c.3246A= (p.Ala1082=)
c.3147A= (p.Ala1049=)
c.3066A= (p.Ala1022=)
c.3207A= (p.Ala1069=)
14g.50130593G>ACA389640566SOS2c.3245C>T (p.Ala1082Val)
c.3146C>T (p.Ala1049Val)
c.3065C>T (p.Ala1022Val)
c.3206C>T (p.Ala1069Val)
14g.50130593G>CCA389640564SOS2c.3245C>G (p.Ala1082Gly)
c.3146C>G (p.Ala1049Gly)
c.3065C>G (p.Ala1022Gly)
c.3206C>G (p.Ala1069Gly)
14g.50130593G>TCA389640567SOS2c.3245C>A (p.Ala1082Glu)
c.3146C>A (p.Ala1049Glu)
c.3065C>A (p.Ala1022Glu)
c.3206C>A (p.Ala1069Glu)
14g.50130594C>ACA389640570SOS2c.3244G>T (p.Ala1082Ser)
c.3145G>T (p.Ala1049Ser)
c.3064G>T (p.Ala1022Ser)
c.3205G>T (p.Ala1069Ser)
14g.50130594C=CA2136058835SOS2c.3244G= (p.Ala1082=)
c.3145G= (p.Ala1049=)
c.3064G= (p.Ala1022=)
c.3205G= (p.Ala1069=)
14g.50130594C>GCA389640573SOS2c.3244G>C (p.Ala1082Pro)
c.3145G>C (p.Ala1049Pro)
c.3064G>C (p.Ala1022Pro)
c.3205G>C (p.Ala1069Pro)
14g.50130594C>TCA389640572SOS2c.3244G>A (p.Ala1082Thr)
c.3145G>A (p.Ala1049Thr)
c.3064G>A (p.Ala1022Thr)
c.3205G>A (p.Ala1069Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
14g.50130595T>ACA486173246SOS2c.3243A>T (p.Ser1081=)
c.3144A>T (p.Ser1048=)
c.3063A>T (p.Ser1021=)
c.3204A>T (p.Ser1068=)
14g.50130595T>CCA486173247SOS2c.3243A>G (p.Ser1081=)
c.3144A>G (p.Ser1048=)
c.3063A>G (p.Ser1021=)
c.3204A>G (p.Ser1068=)
COSMIC COSMIC
14g.50130595T>GCA486173248SOS2c.3243A>C (p.Ser1081=)
c.3144A>C (p.Ser1048=)
c.3063A>C (p.Ser1021=)
c.3204A>C (p.Ser1068=)
14g.50130596G>ACA389640575SOS2c.3242C>T (p.Ser1081Leu)
c.3143C>T (p.Ser1048Leu)
c.3062C>T (p.Ser1021Leu)
c.3203C>T (p.Ser1068Leu)
14g.50130596G>CCA389640577SOS2c.3242C>G (p.Ser1081Ter)
c.3143C>G (p.Ser1048Ter)
c.3062C>G (p.Ser1021Ter)
c.3203C>G (p.Ser1068Ter)
14g.50130596G>TCA389640579SOS2c.3242C>A (p.Ser1081Ter)
c.3143C>A (p.Ser1048Ter)
c.3062C>A (p.Ser1021Ter)
c.3203C>A (p.Ser1068Ter)
14g.50130597A=CA2136058837SOS2c.3241T= (p.Ser1081=)
c.3142T= (p.Ser1048=)
c.3061T= (p.Ser1021=)
c.3202T= (p.Ser1068=)
14g.50130597A>CCA389640581SOS2c.3241T>G (p.Ser1081Ala)
c.3142T>G (p.Ser1048Ala)
c.3061T>G (p.Ser1021Ala)
c.3202T>G (p.Ser1068Ala)
dbSNP
14g.50130597A>GCA389640583SOS2c.3241T>C (p.Ser1081Pro)
c.3142T>C (p.Ser1048Pro)
c.3061T>C (p.Ser1021Pro)
c.3202T>C (p.Ser1068Pro)
14g.50130597A>TCA389640585SOS2c.3241T>A (p.Ser1081Thr)
c.3142T>A (p.Ser1048Thr)
c.3061T>A (p.Ser1021Thr)
c.3202T>A (p.Ser1068Thr)
14g.50130598C>ACA486173252SOS2c.3240G>T (p.Val1080=)
c.3141G>T (p.Val1047=)
c.3060G>T (p.Val1020=)
c.3201G>T (p.Val1067=)
14g.50130598C>GCA486173250SOS2c.3240G>C (p.Val1080=)
c.3141G>C (p.Val1047=)
c.3060G>C (p.Val1020=)
c.3201G>C (p.Val1067=)
14g.50130598C>TCA486173249SOS2c.3240G>A (p.Val1080=)
c.3141G>A (p.Val1047=)
c.3060G>A (p.Val1020=)
c.3201G>A (p.Val1067=)
14g.50130599A>CCA389640591SOS2c.3239T>G (p.Val1080Gly)
c.3140T>G (p.Val1047Gly)
c.3059T>G (p.Val1020Gly)
c.3200T>G (p.Val1067Gly)
14g.50130599A>GCA389640589SOS2c.3239T>C (p.Val1080Ala)
c.3140T>C (p.Val1047Ala)
c.3059T>C (p.Val1020Ala)
c.3200T>C (p.Val1067Ala)
14g.50130599A>TCA389640587SOS2c.3239T>A (p.Val1080Glu)
c.3140T>A (p.Val1047Glu)
c.3059T>A (p.Val1020Glu)
c.3200T>A (p.Val1067Glu)
14g.50130600C>ACA389640593SOS2c.3238G>T (p.Val1080Leu)
c.3139G>T (p.Val1047Leu)
c.3058G>T (p.Val1020Leu)
c.3199G>T (p.Val1067Leu)
14g.50130600C>GCA389640595SOS2c.3238G>C (p.Val1080Leu)
c.3139G>C (p.Val1047Leu)
c.3058G>C (p.Val1020Leu)
c.3199G>C (p.Val1067Leu)
14g.50130600C>TCA389640597SOS2c.3238G>A (p.Val1080Met)
c.3139G>A (p.Val1047Met)
c.3058G>A (p.Val1020Met)
c.3199G>A (p.Val1067Met)
14g.50130600_50130602delinsCTGCA2136058838SOS2c.3236_3238delinsCAG (p.Thr1079=)
c.3137_3139delinsCAG (p.Thr1046=)
c.3056_3058delinsCAG (p.Thr1019=)
c.3197_3199delinsCAG (p.Thr1066=)
14g.50130601T>ACA486173253SOS2c.3237A>T (p.Thr1079=)
c.3138A>T (p.Thr1046=)
c.3057A>T (p.Thr1019=)
c.3198A>T (p.Thr1066=)
14g.50130601T>CCA486173254SOS2c.3237A>G (p.Thr1079=)
c.3138A>G (p.Thr1046=)
c.3057A>G (p.Thr1019=)
c.3198A>G (p.Thr1066=)
ClinVar
14g.50130601T>GCA486173255SOS2c.3237A>C (p.Thr1079=)
c.3138A>C (p.Thr1046=)
c.3057A>C (p.Thr1019=)
c.3198A>C (p.Thr1066=)
14g.50130602_50130603delCA962993894SOS2c.3236_3237del (p.Thr1079SerfsTer22)
c.3137_3138del (p.Thr1046SerfsTer22)
c.3056_3057del (p.Thr1019SerfsTer22)
c.3197_3198del (p.Thr1066SerfsTer22)
dbSNP gnomAD v3 gnomAD v4
14g.50130602G>ACA389640599SOS2c.3236C>T (p.Thr1079Ile)
c.3137C>T (p.Thr1046Ile)
c.3056C>T (p.Thr1019Ile)
c.3197C>T (p.Thr1066Ile)
14g.50130602G>CCA389640601SOS2c.3236C>G (p.Thr1079Arg)
c.3137C>G (p.Thr1046Arg)
c.3056C>G (p.Thr1019Arg)
c.3197C>G (p.Thr1066Arg)
14g.50130602G>TCA389640603SOS2c.3236C>A (p.Thr1079Lys)
c.3137C>A (p.Thr1046Lys)
c.3056C>A (p.Thr1019Lys)
c.3197C>A (p.Thr1066Lys)
14g.50130603T>ACA389640605SOS2c.3235A>T (p.Thr1079Ser)
c.3136A>T (p.Thr1046Ser)
c.3055A>T (p.Thr1019Ser)
c.3196A>T (p.Thr1066Ser)
14g.50130603T>CCA7176854SOS2c.3235A>G (p.Thr1079Ala)
c.3136A>G (p.Thr1046Ala)
c.3055A>G (p.Thr1019Ala)
c.3196A>G (p.Thr1066Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50130603T>GCA389640606SOS2c.3235A>C (p.Thr1079Pro)
c.3136A>C (p.Thr1046Pro)
c.3055A>C (p.Thr1019Pro)
c.3196A>C (p.Thr1066Pro)
14g.50130603T=CA2136058847SOS2c.3235A= (p.Thr1079=)
c.3136A= (p.Thr1046=)
c.3055A= (p.Thr1019=)
c.3196A= (p.Thr1066=)
14g.50130604T>ACA486173259SOS2c.3234A>T (p.Ser1078=)
c.3135A>T (p.Ser1045=)
c.3054A>T (p.Ser1018=)
c.3195A>T (p.Ser1065=)
14g.50130604T>CCA486173261SOS2c.3234A>G (p.Ser1078=)
c.3135A>G (p.Ser1045=)
c.3054A>G (p.Ser1018=)
c.3195A>G (p.Ser1065=)
14g.50130604T>GCA486173260SOS2c.3234A>C (p.Ser1078=)
c.3135A>C (p.Ser1045=)
c.3054A>C (p.Ser1018=)
c.3195A>C (p.Ser1065=)
14g.50130605G>ACA389640609SOS2c.3233C>T (p.Ser1078Leu)
c.3134C>T (p.Ser1045Leu)
c.3053C>T (p.Ser1018Leu)
c.3194C>T (p.Ser1065Leu)
14g.50130605G>CCA389640611SOS2c.3233C>G (p.Ser1078Ter)
c.3134C>G (p.Ser1045Ter)
c.3053C>G (p.Ser1018Ter)
c.3194C>G (p.Ser1065Ter)
14g.50130605G>TCA389640613SOS2c.3233C>A (p.Ser1078Ter)
c.3134C>A (p.Ser1045Ter)
c.3053C>A (p.Ser1018Ter)
c.3194C>A (p.Ser1065Ter)

Number of alleles fetched