Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.50130505G>A | CA486173048 | SOS2 | c.3333C>T (p.Ser1111=) c.3234C>T (p.Ser1078=) c.3153C>T (p.Ser1051=) c.3294C>T (p.Ser1098=) | |
14 | g.50130505G>C | CA486173049 | SOS2 | c.3333C>G (p.Ser1111=) c.3234C>G (p.Ser1078=) c.3153C>G (p.Ser1051=) c.3294C>G (p.Ser1098=) | |
14 | g.50130505G>T | CA486173050 | SOS2 | c.3333C>A (p.Ser1111=) c.3234C>A (p.Ser1078=) c.3153C>A (p.Ser1051=) c.3294C>A (p.Ser1098=) | |
14 | g.50130506G>A | CA389640336 | SOS2 | c.3332C>T (p.Ser1111Phe) c.3233C>T (p.Ser1078Phe) c.3152C>T (p.Ser1051Phe) c.3293C>T (p.Ser1098Phe) | ClinVar gnomAD v4 |
14 | g.50130506G>C | CA389640337 | SOS2 | c.3332C>G (p.Ser1111Cys) c.3233C>G (p.Ser1078Cys) c.3152C>G (p.Ser1051Cys) c.3293C>G (p.Ser1098Cys) | ClinVar |
14 | g.50130506G>T | CA389640338 | SOS2 | c.3332C>A (p.Ser1111Tyr) c.3233C>A (p.Ser1078Tyr) c.3152C>A (p.Ser1051Tyr) c.3293C>A (p.Ser1098Tyr) | |
14 | g.50130507_50130511dup | CA2624769282 | SOS2 | c.3328_3332dup (p.Cys1112AlafsTer30) c.3229_3233dup (p.Cys1079AlafsTer30) c.3148_3152dup (p.Cys1052AlafsTer30) c.3289_3293dup (p.Cys1099AlafsTer30) | gnomAD v4 |
14 | g.50130507A>C | CA389640341 | SOS2 | c.3331T>G (p.Ser1111Ala) c.3232T>G (p.Ser1078Ala) c.3151T>G (p.Ser1051Ala) c.3292T>G (p.Ser1098Ala) | |
14 | g.50130507A>G | CA389640340 | SOS2 | c.3331T>C (p.Ser1111Pro) c.3232T>C (p.Ser1078Pro) c.3151T>C (p.Ser1051Pro) c.3292T>C (p.Ser1098Pro) | dbSNP |
14 | g.50130507A>T | CA389640339 | SOS2 | c.3331T>A (p.Ser1111Thr) c.3232T>A (p.Ser1078Thr) c.3151T>A (p.Ser1051Thr) c.3292T>A (p.Ser1098Thr) | |
14 | g.50130508G>A | CA486173051 | SOS2 | c.3330C>T (p.Ser1110=) c.3231C>T (p.Ser1077=) c.3150C>T (p.Ser1050=) c.3291C>T (p.Ser1097=) | |
14 | g.50130508G>C | CA7176842 | SOS2 | c.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 |
14 | g.50130508G= | CA2136058796 | SOS2 | c.3330C= (p.Ser1110=) c.3231C= (p.Ser1077=) c.3150C= (p.Ser1050=) c.3291C= (p.Ser1097=) | |
14 | g.50130508G>T | CA260713931 | SOS2 | c.3330C>A (p.Ser1110Arg) c.3231C>A (p.Ser1077Arg) c.3150C>A (p.Ser1050Arg) c.3291C>A (p.Ser1097Arg) | dbSNP gnomAD v4 |
14 | g.50130509C>A | CA389640342 | SOS2 | c.3329G>T (p.Ser1110Ile) c.3230G>T (p.Ser1077Ile) c.3149G>T (p.Ser1050Ile) c.3290G>T (p.Ser1097Ile) | gnomAD v4 |
14 | g.50130509C>G | CA389640343 | SOS2 | c.3329G>C (p.Ser1110Thr) c.3230G>C (p.Ser1077Thr) c.3149G>C (p.Ser1050Thr) c.3290G>C (p.Ser1097Thr) | |
14 | g.50130509C>T | CA389640344 | SOS2 | c.3329G>A (p.Ser1110Asn) c.3230G>A (p.Ser1077Asn) c.3149G>A (p.Ser1050Asn) c.3290G>A (p.Ser1097Asn) | |
14 | g.50130510T>A | CA389640345 | SOS2 | c.3328A>T (p.Ser1110Cys) c.3229A>T (p.Ser1077Cys) c.3148A>T (p.Ser1050Cys) c.3289A>T (p.Ser1097Cys) | |
14 | g.50130510T>C | CA389640346 | SOS2 | c.3328A>G (p.Ser1110Gly) c.3229A>G (p.Ser1077Gly) c.3148A>G (p.Ser1050Gly) c.3289A>G (p.Ser1097Gly) | |
14 | g.50130510T>G | CA389640347 | SOS2 | c.3328A>C (p.Ser1110Arg) c.3229A>C (p.Ser1077Arg) c.3148A>C (p.Ser1050Arg) c.3289A>C (p.Ser1097Arg) | |
14 | g.50130511G>A | CA486173052 | SOS2 | c.3327C>T (p.Asn1109=) c.3228C>T (p.Asn1076=) c.3147C>T (p.Asn1049=) c.3288C>T (p.Asn1096=) | ClinVar gnomAD v4 |
14 | g.50130511G>C | CA389640348 | SOS2 | c.3327C>G (p.Asn1109Lys) c.3228C>G (p.Asn1076Lys) c.3147C>G (p.Asn1049Lys) c.3288C>G (p.Asn1096Lys) | |
14 | g.50130511G>T | CA389640349 | SOS2 | c.3327C>A (p.Asn1109Lys) c.3228C>A (p.Asn1076Lys) c.3147C>A (p.Asn1049Lys) c.3288C>A (p.Asn1096Lys) | |
14 | g.50130512T>A | CA389640350 | SOS2 | c.3326A>T (p.Asn1109Ile) c.3227A>T (p.Asn1076Ile) c.3146A>T (p.Asn1049Ile) c.3287A>T (p.Asn1096Ile) | |
14 | g.50130512T>C | CA389640351 | SOS2 | c.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 |
14 | g.50130512T>G | CA389640352 | SOS2 | c.3326A>C (p.Asn1109Thr) c.3227A>C (p.Asn1076Thr) c.3146A>C (p.Asn1049Thr) c.3287A>C (p.Asn1096Thr) | gnomAD v4 |
14 | g.50130512T= | CA2136058797 | SOS2 | c.3326A= (p.Asn1109=) c.3227A= (p.Asn1076=) c.3146A= (p.Asn1049=) c.3287A= (p.Asn1096=) | |
14 | g.50130513T>A | CA389640355 | SOS2 | c.3325A>T (p.Asn1109Tyr) c.3226A>T (p.Asn1076Tyr) c.3145A>T (p.Asn1049Tyr) c.3286A>T (p.Asn1096Tyr) | gnomAD v4 |
14 | g.50130513T>C | CA389640353 | SOS2 | c.3325A>G (p.Asn1109Asp) c.3226A>G (p.Asn1076Asp) c.3145A>G (p.Asn1049Asp) c.3286A>G (p.Asn1096Asp) | |
14 | g.50130513T>G | CA389640354 | SOS2 | c.3325A>C (p.Asn1109His) c.3226A>C (p.Asn1076His) c.3145A>C (p.Asn1049His) c.3286A>C (p.Asn1096His) | gnomAD v4 |
14 | g.50130514G>A | CA486173053 | SOS2 | c.3324C>T (p.Leu1108=) c.3225C>T (p.Leu1075=) c.3144C>T (p.Leu1048=) c.3285C>T (p.Leu1095=) | gnomAD v4 |
14 | g.50130514G>C | CA260713937 | SOS2 | c.3324C>G (p.Leu1108=) c.3225C>G (p.Leu1075=) c.3144C>G (p.Leu1048=) c.3285C>G (p.Leu1095=) | dbSNP |
14 | g.50130514G= | CA2136058798 | SOS2 | c.3324C= (p.Leu1108=) c.3225C= (p.Leu1075=) c.3144C= (p.Leu1048=) c.3285C= (p.Leu1095=) | |
14 | g.50130514G>T | CA486173054 | SOS2 | c.3324C>A (p.Leu1108=) c.3225C>A (p.Leu1075=) c.3144C>A (p.Leu1048=) c.3285C>A (p.Leu1095=) | |
14 | g.50130515A>C | CA389640356 | SOS2 | c.3323T>G (p.Leu1108Arg) c.3224T>G (p.Leu1075Arg) c.3143T>G (p.Leu1048Arg) c.3284T>G (p.Leu1095Arg) | |
14 | g.50130515A>G | CA389640357 | SOS2 | c.3323T>C (p.Leu1108Pro) c.3224T>C (p.Leu1075Pro) c.3143T>C (p.Leu1048Pro) c.3284T>C (p.Leu1095Pro) | |
14 | g.50130515A>T | CA389640358 | SOS2 | c.3323T>A (p.Leu1108His) c.3224T>A (p.Leu1075His) c.3143T>A (p.Leu1048His) c.3284T>A (p.Leu1095His) | |
14 | g.50130516G>A | CA389640359 | SOS2 | c.3322C>T (p.Leu1108Phe) c.3223C>T (p.Leu1075Phe) c.3142C>T (p.Leu1048Phe) c.3283C>T (p.Leu1095Phe) | gnomAD v4 |
14 | g.50130516G>C | CA389640360 | SOS2 | c.3322C>G (p.Leu1108Val) c.3223C>G (p.Leu1075Val) c.3142C>G (p.Leu1048Val) c.3283C>G (p.Leu1095Val) | |
14 | g.50130516G>T | CA389640361 | SOS2 | c.3322C>A (p.Leu1108Ile) c.3223C>A (p.Leu1075Ile) c.3142C>A (p.Leu1048Ile) c.3283C>A (p.Leu1095Ile) | |
14 | g.50130517A>C | CA389640362 | SOS2 | c.3321T>G (p.Asp1107Glu) c.3222T>G (p.Asp1074Glu) c.3141T>G (p.Asp1047Glu) c.3282T>G (p.Asp1094Glu) | |
14 | g.50130517A>G | CA486173055 | SOS2 | c.3321T>C (p.Asp1107=) c.3222T>C (p.Asp1074=) c.3141T>C (p.Asp1047=) c.3282T>C (p.Asp1094=) | |
14 | g.50130517A>T | CA389640363 | SOS2 | c.3321T>A (p.Asp1107Glu) c.3222T>A (p.Asp1074Glu) c.3141T>A (p.Asp1047Glu) c.3282T>A (p.Asp1094Glu) | |
14 | g.50130518T>A | CA389640364 | SOS2 | c.3320A>T (p.Asp1107Val) c.3221A>T (p.Asp1074Val) c.3140A>T (p.Asp1047Val) c.3281A>T (p.Asp1094Val) | COSMIC COSMIC |
14 | g.50130518T>C | CA389640365 | SOS2 | c.3320A>G (p.Asp1107Gly) c.3221A>G (p.Asp1074Gly) c.3140A>G (p.Asp1047Gly) c.3281A>G (p.Asp1094Gly) | |
14 | g.50130518T>G | CA389640366 | SOS2 | c.3320A>C (p.Asp1107Ala) c.3221A>C (p.Asp1074Ala) c.3140A>C (p.Asp1047Ala) c.3281A>C (p.Asp1094Ala) | gnomAD v4 |
14 | g.50130519C>A | CA389640368 | SOS2 | c.3319G>T (p.Asp1107Tyr) c.3220G>T (p.Asp1074Tyr) c.3139G>T (p.Asp1047Tyr) c.3280G>T (p.Asp1094Tyr) | |
14 | g.50130519C>G | CA389640369 | SOS2 | c.3319G>C (p.Asp1107His) c.3220G>C (p.Asp1074His) c.3139G>C (p.Asp1047His) c.3280G>C (p.Asp1094His) | |
14 | g.50130519C>T | CA389640367 | SOS2 | c.3319G>A (p.Asp1107Asn) c.3220G>A (p.Asp1074Asn) c.3139G>A (p.Asp1047Asn) c.3280G>A (p.Asp1094Asn) | |
14 | g.50130520C>A | CA486173056 | SOS2 | c.3318G>T (p.Val1106=) c.3219G>T (p.Val1073=) c.3138G>T (p.Val1046=) c.3279G>T (p.Val1093=) | |
14 | g.50130520C>G | CA486173057 | SOS2 | c.3318G>C (p.Val1106=) c.3219G>C (p.Val1073=) c.3138G>C (p.Val1046=) c.3279G>C (p.Val1093=) | |
14 | g.50130520C>T | CA486173059 | SOS2 | c.3318G>A (p.Val1106=) c.3219G>A (p.Val1073=) c.3138G>A (p.Val1046=) c.3279G>A (p.Val1093=) | |
14 | g.50130521A>C | CA389640370 | SOS2 | c.3317T>G (p.Val1106Gly) c.3218T>G (p.Val1073Gly) c.3137T>G (p.Val1046Gly) c.3278T>G (p.Val1093Gly) | |
14 | g.50130521A>G | CA389640371 | SOS2 | c.3317T>C (p.Val1106Ala) c.3218T>C (p.Val1073Ala) c.3137T>C (p.Val1046Ala) c.3278T>C (p.Val1093Ala) | |
14 | g.50130521A>T | CA389640372 | SOS2 | c.3317T>A (p.Val1106Glu) c.3218T>A (p.Val1073Glu) c.3137T>A (p.Val1046Glu) c.3278T>A (p.Val1093Glu) | |
14 | g.50130522C>A | CA389640373 | SOS2 | c.3316G>T (p.Val1106Leu) c.3217G>T (p.Val1073Leu) c.3136G>T (p.Val1046Leu) c.3277G>T (p.Val1093Leu) | |
14 | g.50130522C>G | CA389640374 | SOS2 | c.3316G>C (p.Val1106Leu) c.3217G>C (p.Val1073Leu) c.3136G>C (p.Val1046Leu) c.3277G>C (p.Val1093Leu) | |
14 | g.50130522C>T | CA389640375 | SOS2 | c.3316G>A (p.Val1106Met) c.3217G>A (p.Val1073Met) c.3136G>A (p.Val1046Met) c.3277G>A (p.Val1093Met) | |
14 | g.50130523A= | CA2136058799 | SOS2 | c.3315T= (p.Asp1105=) c.3216T= (p.Asp1072=) c.3135T= (p.Asp1045=) c.3276T= (p.Asp1092=) | |
14 | g.50130523A>C | CA389640376 | SOS2 | c.3315T>G (p.Asp1105Glu) c.3216T>G (p.Asp1072Glu) c.3135T>G (p.Asp1045Glu) c.3276T>G (p.Asp1092Glu) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50130523A>G | CA486173060 | SOS2 | c.3315T>C (p.Asp1105=) c.3216T>C (p.Asp1072=) c.3135T>C (p.Asp1045=) c.3276T>C (p.Asp1092=) | |
14 | g.50130523A>T | CA389640377 | SOS2 | c.3315T>A (p.Asp1105Glu) c.3216T>A (p.Asp1072Glu) c.3135T>A (p.Asp1045Glu) c.3276T>A (p.Asp1092Glu) | |
14 | g.50130524T>A | CA389640378 | SOS2 | c.3314A>T (p.Asp1105Val) c.3215A>T (p.Asp1072Val) c.3134A>T (p.Asp1045Val) c.3275A>T (p.Asp1092Val) | |
14 | g.50130524T>C | CA389640379 | SOS2 | c.3314A>G (p.Asp1105Gly) c.3215A>G (p.Asp1072Gly) c.3134A>G (p.Asp1045Gly) c.3275A>G (p.Asp1092Gly) | |
14 | g.50130524T>G | CA389640380 | SOS2 | c.3314A>C (p.Asp1105Ala) c.3215A>C (p.Asp1072Ala) c.3134A>C (p.Asp1045Ala) c.3275A>C (p.Asp1092Ala) | |
14 | g.50130525C>A | CA389640381 | SOS2 | c.3313G>T (p.Asp1105Tyr) c.3214G>T (p.Asp1072Tyr) c.3133G>T (p.Asp1045Tyr) c.3274G>T (p.Asp1092Tyr) | |
14 | g.50130525C= | CA2136058804 | SOS2 | c.3313G= (p.Asp1105=) c.3214G= (p.Asp1072=) c.3133G= (p.Asp1045=) c.3274G= (p.Asp1092=) | |
14 | g.50130525C>G | CA389640382 | SOS2 | c.3313G>C (p.Asp1105His) c.3214G>C (p.Asp1072His) c.3133G>C (p.Asp1045His) c.3274G>C (p.Asp1092His) | |
14 | g.50130525C>T | CA389640383 | SOS2 | c.3313G>A (p.Asp1105Asn) c.3214G>A (p.Asp1072Asn) c.3133G>A (p.Asp1045Asn) c.3274G>A (p.Asp1092Asn) | ClinVar dbSNP |
14 | g.50130526T>A | CA389640384 | SOS2 | c.3312A>T (p.Leu1104Phe) c.3213A>T (p.Leu1071Phe) c.3132A>T (p.Leu1044Phe) c.3273A>T (p.Leu1091Phe) | |
14 | g.50130526T>C | CA486173061 | SOS2 | c.3312A>G (p.Leu1104=) c.3213A>G (p.Leu1071=) c.3132A>G (p.Leu1044=) c.3273A>G (p.Leu1091=) | gnomAD v4 |
14 | g.50130526T>G | CA389640385 | SOS2 | c.3312A>C (p.Leu1104Phe) c.3213A>C (p.Leu1071Phe) c.3132A>C (p.Leu1044Phe) c.3273A>C (p.Leu1091Phe) | |
14 | g.50130528_50130533dup | CA962993851 | SOS2 | c.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 |
14 | g.50130527A>C | CA389640386 | SOS2 | c.3311T>G (p.Leu1104Ter) c.3212T>G (p.Leu1071Ter) c.3131T>G (p.Leu1044Ter) c.3272T>G (p.Leu1091Ter) | |
14 | g.50130527A>G | CA389640387 | SOS2 | c.3311T>C (p.Leu1104Ser) c.3212T>C (p.Leu1071Ser) c.3131T>C (p.Leu1044Ser) c.3272T>C (p.Leu1091Ser) | |
14 | g.50130527A>T | CA389640388 | SOS2 | c.3311T>A (p.Leu1104Ter) c.3212T>A (p.Leu1071Ter) c.3131T>A (p.Leu1044Ter) c.3272T>A (p.Leu1091Ter) | |
14 | g.50130528A>C | CA389640389 | SOS2 | c.3310T>G (p.Leu1104Val) c.3211T>G (p.Leu1071Val) c.3130T>G (p.Leu1044Val) c.3271T>G (p.Leu1091Val) | |
14 | g.50130528A>G | CA486173063 | SOS2 | c.3310T>C (p.Leu1104=) c.3211T>C (p.Leu1071=) c.3130T>C (p.Leu1044=) c.3271T>C (p.Leu1091=) | |
14 | g.50130528A>T | CA389640390 | SOS2 | c.3310T>A (p.Leu1104Ile) c.3211T>A (p.Leu1071Ile) c.3130T>A (p.Leu1044Ile) c.3271T>A (p.Leu1091Ile) | |
14 | g.50130529A>C | CA389640391 | SOS2 | c.3309T>G (p.Phe1103Leu) c.3210T>G (p.Phe1070Leu) c.3129T>G (p.Phe1043Leu) c.3270T>G (p.Phe1090Leu) | |
14 | g.50130529A>G | CA486173064 | SOS2 | c.3309T>C (p.Phe1103=) c.3210T>C (p.Phe1070=) c.3129T>C (p.Phe1043=) c.3270T>C (p.Phe1090=) | |
14 | g.50130529A>T | CA389640392 | SOS2 | c.3309T>A (p.Phe1103Leu) c.3210T>A (p.Phe1070Leu) c.3129T>A (p.Phe1043Leu) c.3270T>A (p.Phe1090Leu) | |
14 | g.50130530A>C | CA389640393 | SOS2 | c.3308T>G (p.Phe1103Cys) c.3209T>G (p.Phe1070Cys) c.3128T>G (p.Phe1043Cys) c.3269T>G (p.Phe1090Cys) | gnomAD v4 |
14 | g.50130530A>G | CA389640394 | SOS2 | c.3308T>C (p.Phe1103Ser) c.3209T>C (p.Phe1070Ser) c.3128T>C (p.Phe1043Ser) c.3269T>C (p.Phe1090Ser) | |
14 | g.50130530A>T | CA389640395 | SOS2 | c.3308T>A (p.Phe1103Tyr) c.3209T>A (p.Phe1070Tyr) c.3128T>A (p.Phe1043Tyr) c.3269T>A (p.Phe1090Tyr) | |
14 | g.50130531A= | CA2136058805 | SOS2 | c.3307T= (p.Phe1103=) c.3208T= (p.Phe1070=) c.3127T= (p.Phe1043=) c.3268T= (p.Phe1090=) | |
14 | g.50130531A>C | CA389640396 | SOS2 | c.3307T>G (p.Phe1103Val) c.3208T>G (p.Phe1070Val) c.3127T>G (p.Phe1043Val) c.3268T>G (p.Phe1090Val) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50130531A>G | CA389640397 | SOS2 | c.3307T>C (p.Phe1103Leu) c.3208T>C (p.Phe1070Leu) c.3127T>C (p.Phe1043Leu) c.3268T>C (p.Phe1090Leu) | |
14 | g.50130531A>T | CA389640398 | SOS2 | c.3307T>A (p.Phe1103Ile) c.3208T>A (p.Phe1070Ile) c.3127T>A (p.Phe1043Ile) c.3268T>A (p.Phe1090Ile) | |
14 | g.50130532T>A | CA486173065 | SOS2 | c.3306A>T (p.Val1102=) c.3207A>T (p.Val1069=) c.3126A>T (p.Val1042=) c.3267A>T (p.Val1089=) | |
14 | g.50130532T>C | CA486173066 | SOS2 | c.3306A>G (p.Val1102=) c.3207A>G (p.Val1069=) c.3126A>G (p.Val1042=) c.3267A>G (p.Val1089=) | |
14 | g.50130532T>G | CA486173067 | SOS2 | c.3306A>C (p.Val1102=) c.3207A>C (p.Val1069=) c.3126A>C (p.Val1042=) c.3267A>C (p.Val1089=) | |
14 | g.50130533A>C | CA389640400 | SOS2 | c.3305T>G (p.Val1102Gly) c.3206T>G (p.Val1069Gly) c.3125T>G (p.Val1042Gly) c.3266T>G (p.Val1089Gly) | ClinVar |
14 | g.50130533A>G | CA389640401 | SOS2 | c.3305T>C (p.Val1102Ala) c.3206T>C (p.Val1069Ala) c.3125T>C (p.Val1042Ala) c.3266T>C (p.Val1089Ala) | |
14 | g.50130533A>T | CA389640399 | SOS2 | c.3305T>A (p.Val1102Glu) c.3206T>A (p.Val1069Glu) c.3125T>A (p.Val1042Glu) c.3266T>A (p.Val1089Glu) | |
14 | g.50130534C>A | CA389640402 | SOS2 | c.3304G>T (p.Val1102Leu) c.3205G>T (p.Val1069Leu) c.3124G>T (p.Val1042Leu) c.3265G>T (p.Val1089Leu) | |
14 | g.50130534C= | CA2136058807 | SOS2 | c.3304G= (p.Val1102=) c.3205G= (p.Val1069=) c.3124G= (p.Val1042=) c.3265G= (p.Val1089=) | |
14 | g.50130534C>G | CA389640403 | SOS2 | c.3304G>C (p.Val1102Leu) c.3205G>C (p.Val1069Leu) c.3124G>C (p.Val1042Leu) c.3265G>C (p.Val1089Leu) | dbSNP |
14 | g.50130534C>T | CA7176843 | SOS2 | c.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 |
14 | g.50130535A= | CA2136058809 | SOS2 | c.3303T= (p.Ser1101=) c.3204T= (p.Ser1068=) c.3123T= (p.Ser1041=) c.3264T= (p.Ser1088=) | |
14 | g.50130535A>C | CA389640404 | SOS2 | c.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 |
14 | g.50130535A>G | CA486173068 | SOS2 | c.3303T>C (p.Ser1101=) c.3204T>C (p.Ser1068=) c.3123T>C (p.Ser1041=) c.3264T>C (p.Ser1088=) | |
14 | g.50130535A>T | CA389640405 | SOS2 | c.3303T>A (p.Ser1101Arg) c.3204T>A (p.Ser1068Arg) c.3123T>A (p.Ser1041Arg) c.3264T>A (p.Ser1088Arg) | gnomAD v4 |
14 | g.50130536C>A | CA389640408 | SOS2 | c.3302G>T (p.Ser1101Ile) c.3203G>T (p.Ser1068Ile) c.3122G>T (p.Ser1041Ile) c.3263G>T (p.Ser1088Ile) | |
14 | g.50130536C= | CA2136058810 | SOS2 | c.3302G= (p.Ser1101=) c.3203G= (p.Ser1068=) c.3122G= (p.Ser1041=) c.3263G= (p.Ser1088=) | |
14 | g.50130536C>G | CA389640407 | SOS2 | c.3302G>C (p.Ser1101Thr) c.3203G>C (p.Ser1068Thr) c.3122G>C (p.Ser1041Thr) c.3263G>C (p.Ser1088Thr) | |
14 | g.50130536C>T | CA389640406 | SOS2 | c.3302G>A (p.Ser1101Asn) c.3203G>A (p.Ser1068Asn) c.3122G>A (p.Ser1041Asn) c.3263G>A (p.Ser1088Asn) | ClinVar dbSNP gnomAD v4 |
14 | g.50130537T>A | CA389640409 | SOS2 | c.3301A>T (p.Ser1101Cys) c.3202A>T (p.Ser1068Cys) c.3121A>T (p.Ser1041Cys) c.3262A>T (p.Ser1088Cys) | |
14 | g.50130537T>C | CA389640410 | SOS2 | c.3301A>G (p.Ser1101Gly) c.3202A>G (p.Ser1068Gly) c.3121A>G (p.Ser1041Gly) c.3262A>G (p.Ser1088Gly) | |
14 | g.50130537T>G | CA389640411 | SOS2 | c.3301A>C (p.Ser1101Arg) c.3202A>C (p.Ser1068Arg) c.3121A>C (p.Ser1041Arg) c.3262A>C (p.Ser1088Arg) | ClinVar |
14 | g.50130538A>C | CA486173070 | SOS2 | c.3300T>G (p.Leu1100=) c.3201T>G (p.Leu1067=) c.3120T>G (p.Leu1040=) c.3261T>G (p.Leu1087=) | |
14 | g.50130538A>G | CA486173071 | SOS2 | c.3300T>C (p.Leu1100=) c.3201T>C (p.Leu1067=) c.3120T>C (p.Leu1040=) c.3261T>C (p.Leu1087=) | |
14 | g.50130538A>T | CA486173069 | SOS2 | c.3300T>A (p.Leu1100=) c.3201T>A (p.Leu1067=) c.3120T>A (p.Leu1040=) c.3261T>A (p.Leu1087=) | |
14 | g.50130539A= | CA2136058811 | SOS2 | c.3299T= (p.Leu1100=) c.3200T= (p.Leu1067=) c.3119T= (p.Leu1040=) c.3260T= (p.Leu1087=) | |
14 | g.50130539A>C | CA260713951 | SOS2 | c.3299T>G (p.Leu1100Arg) c.3200T>G (p.Leu1067Arg) c.3119T>G (p.Leu1040Arg) c.3260T>G (p.Leu1087Arg) | dbSNP |
14 | g.50130539A>G | CA389640412 | SOS2 | c.3299T>C (p.Leu1100Pro) c.3200T>C (p.Leu1067Pro) c.3119T>C (p.Leu1040Pro) c.3260T>C (p.Leu1087Pro) | |
14 | g.50130539A>T | CA389640413 | SOS2 | c.3299T>A (p.Leu1100His) c.3200T>A (p.Leu1067His) c.3119T>A (p.Leu1040His) c.3260T>A (p.Leu1087His) | |
14 | g.50130540G>A | CA389640416 | SOS2 | c.3298C>T (p.Leu1100Phe) c.3199C>T (p.Leu1067Phe) c.3118C>T (p.Leu1040Phe) c.3259C>T (p.Leu1087Phe) | gnomAD v4 |
14 | g.50130540G>C | CA389640414 | SOS2 | c.3298C>G (p.Leu1100Val) c.3199C>G (p.Leu1067Val) c.3118C>G (p.Leu1040Val) c.3259C>G (p.Leu1087Val) | gnomAD v4 |
14 | g.50130540G>T | CA389640415 | SOS2 | c.3298C>A (p.Leu1100Ile) c.3199C>A (p.Leu1067Ile) c.3118C>A (p.Leu1040Ile) c.3259C>A (p.Leu1087Ile) | |
14 | g.50130541G>A | CA486173072 | SOS2 | c.3297C>T (p.Asp1099=) c.3198C>T (p.Asp1066=) c.3117C>T (p.Asp1039=) c.3258C>T (p.Asp1086=) | gnomAD v4 |
14 | g.50130541G>C | CA389640417 | SOS2 | c.3297C>G (p.Asp1099Glu) c.3198C>G (p.Asp1066Glu) c.3117C>G (p.Asp1039Glu) c.3258C>G (p.Asp1086Glu) | |
14 | g.50130541G>T | CA389640418 | SOS2 | c.3297C>A (p.Asp1099Glu) c.3198C>A (p.Asp1066Glu) c.3117C>A (p.Asp1039Glu) c.3258C>A (p.Asp1086Glu) | |
14 | g.50130542T>A | CA389640419 | SOS2 | c.3296A>T (p.Asp1099Val) c.3197A>T (p.Asp1066Val) c.3116A>T (p.Asp1039Val) c.3257A>T (p.Asp1086Val) | |
14 | g.50130542T>C | CA389640420 | SOS2 | c.3296A>G (p.Asp1099Gly) c.3197A>G (p.Asp1066Gly) c.3116A>G (p.Asp1039Gly) c.3257A>G (p.Asp1086Gly) | |
14 | g.50130542T>G | CA389640421 | SOS2 | c.3296A>C (p.Asp1099Ala) c.3197A>C (p.Asp1066Ala) c.3116A>C (p.Asp1039Ala) c.3257A>C (p.Asp1086Ala) | |
14 | g.50130543C>A | CA389640423 | SOS2 | c.3295G>T (p.Asp1099Tyr) c.3196G>T (p.Asp1066Tyr) c.3115G>T (p.Asp1039Tyr) c.3256G>T (p.Asp1086Tyr) | |
14 | g.50130543C= | CA2136058812 | SOS2 | c.3295G= (p.Asp1099=) c.3196G= (p.Asp1066=) c.3115G= (p.Asp1039=) c.3256G= (p.Asp1086=) | |
14 | g.50130543C>G | CA7176844 | SOS2 | c.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 |
14 | g.50130543C>T | CA389640422 | SOS2 | c.3295G>A (p.Asp1099Asn) c.3196G>A (p.Asp1066Asn) c.3115G>A (p.Asp1039Asn) c.3256G>A (p.Asp1086Asn) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50130544T>A | CA486173073 | SOS2 | c.3294A>T (p.Ser1098=) c.3195A>T (p.Ser1065=) c.3114A>T (p.Ser1038=) c.3255A>T (p.Ser1085=) | |
14 | g.50130544T>C | CA486173075 | SOS2 | c.3294A>G (p.Ser1098=) c.3195A>G (p.Ser1065=) c.3114A>G (p.Ser1038=) c.3255A>G (p.Ser1085=) | |
14 | g.50130544T>G | CA486173074 | SOS2 | c.3294A>C (p.Ser1098=) c.3195A>C (p.Ser1065=) c.3114A>C (p.Ser1038=) c.3255A>C (p.Ser1085=) | |
14 | g.50130545G>A | CA389640424 | SOS2 | c.3293C>T (p.Ser1098Leu) c.3194C>T (p.Ser1065Leu) c.3113C>T (p.Ser1038Leu) c.3254C>T (p.Ser1085Leu) | |
14 | g.50130545G>C | CA389640425 | SOS2 | c.3293C>G (p.Ser1098Ter) c.3194C>G (p.Ser1065Ter) c.3113C>G (p.Ser1038Ter) c.3254C>G (p.Ser1085Ter) | |
14 | g.50130545G>T | CA389640426 | SOS2 | c.3293C>A (p.Ser1098Ter) c.3194C>A (p.Ser1065Ter) c.3113C>A (p.Ser1038Ter) c.3254C>A (p.Ser1085Ter) | |
14 | g.50130549_50130551del | CA2624769283 | SOS2 | c.3291_3293del (p.Ser1098del) c.3192_3194del (p.Ser1065del) c.3111_3113del (p.Ser1038del) c.3252_3254del (p.Ser1085del) | gnomAD v4 |
14 | g.50130546A>C | CA389640427 | SOS2 | c.3292T>G (p.Ser1098Ala) c.3193T>G (p.Ser1065Ala) c.3112T>G (p.Ser1038Ala) c.3253T>G (p.Ser1085Ala) | gnomAD v4 |
14 | g.50130546A>G | CA389640428 | SOS2 | c.3292T>C (p.Ser1098Pro) c.3193T>C (p.Ser1065Pro) c.3112T>C (p.Ser1038Pro) c.3253T>C (p.Ser1085Pro) | |
14 | g.50130546A>T | CA389640429 | SOS2 | c.3292T>A (p.Ser1098Thr) c.3193T>A (p.Ser1065Thr) c.3112T>A (p.Ser1038Thr) c.3253T>A (p.Ser1085Thr) | |
14 | g.50130547A= | CA2136058813 | SOS2 | c.3291T= (p.Ser1097=) c.3192T= (p.Ser1064=) c.3111T= (p.Ser1037=) c.3252T= (p.Ser1084=) | |
14 | g.50130547A>C | CA486173076 | SOS2 | c.3291T>G (p.Ser1097=) c.3192T>G (p.Ser1064=) c.3111T>G (p.Ser1037=) c.3252T>G (p.Ser1084=) | |
14 | g.50130547A>G | CA486173077 | SOS2 | c.3291T>C (p.Ser1097=) c.3192T>C (p.Ser1064=) c.3111T>C (p.Ser1037=) c.3252T>C (p.Ser1084=) | |
14 | g.50130547A>T | CA486173078 | SOS2 | c.3291T>A (p.Ser1097=) c.3192T>A (p.Ser1064=) c.3111T>A (p.Ser1037=) c.3252T>A (p.Ser1084=) | dbSNP |
14 | g.50130548G>A | CA389640430 | SOS2 | c.3290C>T (p.Ser1097Phe) c.3191C>T (p.Ser1064Phe) c.3110C>T (p.Ser1037Phe) c.3251C>T (p.Ser1084Phe) | gnomAD v4 |
14 | g.50130548G>C | CA389640432 | SOS2 | c.3290C>G (p.Ser1097Cys) c.3191C>G (p.Ser1064Cys) c.3110C>G (p.Ser1037Cys) c.3251C>G (p.Ser1084Cys) | |
14 | g.50130548G>T | CA389640431 | SOS2 | c.3290C>A (p.Ser1097Tyr) c.3191C>A (p.Ser1064Tyr) c.3110C>A (p.Ser1037Tyr) c.3251C>A (p.Ser1084Tyr) | |
14 | g.50130549A= | CA2136058814 | SOS2 | c.3289T= (p.Ser1097=) c.3190T= (p.Ser1064=) c.3109T= (p.Ser1037=) c.3250T= (p.Ser1084=) | |
14 | g.50130549A>C | CA389640433 | SOS2 | c.3289T>G (p.Ser1097Ala) c.3190T>G (p.Ser1064Ala) c.3109T>G (p.Ser1037Ala) c.3250T>G (p.Ser1084Ala) | |
14 | g.50130549A>G | CA7176845 | SOS2 | c.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 |
14 | g.50130549A>T | CA389640434 | SOS2 | c.3289T>A (p.Ser1097Thr) c.3190T>A (p.Ser1064Thr) c.3109T>A (p.Ser1037Thr) c.3250T>A (p.Ser1084Thr) | |
14 | g.50130550A>C | CA486173079 | SOS2 | c.3288T>G (p.Ala1096=) c.3189T>G (p.Ala1063=) c.3108T>G (p.Ala1036=) c.3249T>G (p.Ala1083=) | |
14 | g.50130550A>G | CA486173080 | SOS2 | c.3288T>C (p.Ala1096=) c.3189T>C (p.Ala1063=) c.3108T>C (p.Ala1036=) c.3249T>C (p.Ala1083=) | gnomAD v4 |
14 | g.50130550A>T | CA486173081 | SOS2 | c.3288T>A (p.Ala1096=) c.3189T>A (p.Ala1063=) c.3108T>A (p.Ala1036=) c.3249T>A (p.Ala1083=) | |
14 | g.50130551G>A | CA389640435 | SOS2 | c.3287C>T (p.Ala1096Val) c.3188C>T (p.Ala1063Val) c.3107C>T (p.Ala1036Val) c.3248C>T (p.Ala1083Val) | |
14 | g.50130551G>C | CA389640436 | SOS2 | c.3287C>G (p.Ala1096Gly) c.3188C>G (p.Ala1063Gly) c.3107C>G (p.Ala1036Gly) c.3248C>G (p.Ala1083Gly) | |
14 | g.50130551G>T | CA389640437 | SOS2 | c.3287C>A (p.Ala1096Asp) c.3188C>A (p.Ala1063Asp) c.3107C>A (p.Ala1036Asp) c.3248C>A (p.Ala1083Asp) | |
14 | g.50130552C>A | CA389640438 | SOS2 | c.3286G>T (p.Ala1096Ser) c.3187G>T (p.Ala1063Ser) c.3106G>T (p.Ala1036Ser) c.3247G>T (p.Ala1083Ser) | |
14 | g.50130552C= | CA2136058815 | SOS2 | c.3286G= (p.Ala1096=) c.3187G= (p.Ala1063=) c.3106G= (p.Ala1036=) c.3247G= (p.Ala1083=) | |
14 | g.50130552C>G | CA389640439 | SOS2 | c.3286G>C (p.Ala1096Pro) c.3187G>C (p.Ala1063Pro) c.3106G>C (p.Ala1036Pro) c.3247G>C (p.Ala1083Pro) | dbSNP |
14 | g.50130552C>T | CA389640440 | SOS2 | c.3286G>A (p.Ala1096Thr) c.3187G>A (p.Ala1063Thr) c.3106G>A (p.Ala1036Thr) c.3247G>A (p.Ala1083Thr) | ClinVar dbSNP |
14 | g.50130553A>C | CA486173082 | SOS2 | c.3285T>G (p.Ser1095=) c.3186T>G (p.Ser1062=) c.3105T>G (p.Ser1035=) c.3246T>G (p.Ser1082=) | |
14 | g.50130553A>G | CA486173083 | SOS2 | c.3285T>C (p.Ser1095=) c.3186T>C (p.Ser1062=) c.3105T>C (p.Ser1035=) c.3246T>C (p.Ser1082=) | |
14 | g.50130553A>T | CA486173084 | SOS2 | c.3285T>A (p.Ser1095=) c.3186T>A (p.Ser1062=) c.3105T>A (p.Ser1035=) c.3246T>A (p.Ser1082=) | |
14 | g.50130554G>A | CA389640441 | SOS2 | c.3284C>T (p.Ser1095Phe) c.3185C>T (p.Ser1062Phe) c.3104C>T (p.Ser1035Phe) c.3245C>T (p.Ser1082Phe) | gnomAD v4 |
14 | g.50130554G>C | CA7176846 | SOS2 | c.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 |
14 | g.50130554G= | CA2136058816 | SOS2 | c.3284C= (p.Ser1095=) c.3185C= (p.Ser1062=) c.3104C= (p.Ser1035=) c.3245C= (p.Ser1082=) | |
14 | g.50130554G>T | CA389640442 | SOS2 | c.3284C>A (p.Ser1095Tyr) c.3185C>A (p.Ser1062Tyr) c.3104C>A (p.Ser1035Tyr) c.3245C>A (p.Ser1082Tyr) | |
14 | g.50130555A>C | CA389640444 | SOS2 | c.3283T>G (p.Ser1095Ala) c.3184T>G (p.Ser1062Ala) c.3103T>G (p.Ser1035Ala) c.3244T>G (p.Ser1082Ala) | |
14 | g.50130555A>G | CA389640445 | SOS2 | c.3283T>C (p.Ser1095Pro) c.3184T>C (p.Ser1062Pro) c.3103T>C (p.Ser1035Pro) c.3244T>C (p.Ser1082Pro) | |
14 | g.50130555A>T | CA389640443 | SOS2 | c.3283T>A (p.Ser1095Thr) c.3184T>A (p.Ser1062Thr) c.3103T>A (p.Ser1035Thr) c.3244T>A (p.Ser1082Thr) | |
14 | g.50130556T>A | CA486173086 | SOS2 | c.3282A>T (p.Val1094=) c.3183A>T (p.Val1061=) c.3102A>T (p.Val1034=) c.3243A>T (p.Val1081=) | gnomAD v4 |
14 | g.50130556T>C | CA486173088 | SOS2 | c.3282A>G (p.Val1094=) c.3183A>G (p.Val1061=) c.3102A>G (p.Val1034=) c.3243A>G (p.Val1081=) | |
14 | g.50130556T>G | CA486173089 | SOS2 | c.3282A>C (p.Val1094=) c.3183A>C (p.Val1061=) c.3102A>C (p.Val1034=) c.3243A>C (p.Val1081=) | |
14 | g.50130557A>C | CA389640446 | SOS2 | c.3281T>G (p.Val1094Gly) c.3182T>G (p.Val1061Gly) c.3101T>G (p.Val1034Gly) c.3242T>G (p.Val1081Gly) | |
14 | g.50130557A>G | CA389640447 | SOS2 | c.3281T>C (p.Val1094Ala) c.3182T>C (p.Val1061Ala) c.3101T>C (p.Val1034Ala) c.3242T>C (p.Val1081Ala) | |
14 | g.50130557A>T | CA389640448 | SOS2 | c.3281T>A (p.Val1094Glu) c.3182T>A (p.Val1061Glu) c.3101T>A (p.Val1034Glu) c.3242T>A (p.Val1081Glu) | |
14 | g.50130558C>A | CA389640449 | SOS2 | c.3280G>T (p.Val1094Leu) c.3181G>T (p.Val1061Leu) c.3100G>T (p.Val1034Leu) c.3241G>T (p.Val1081Leu) | |
14 | g.50130558C>G | CA389640450 | SOS2 | c.3280G>C (p.Val1094Leu) c.3181G>C (p.Val1061Leu) c.3100G>C (p.Val1034Leu) c.3241G>C (p.Val1081Leu) | |
14 | g.50130558C>T | CA389640451 | SOS2 | c.3280G>A (p.Val1094Ile) c.3181G>A (p.Val1061Ile) c.3100G>A (p.Val1034Ile) c.3241G>A (p.Val1081Ile) | |
14 | g.50130559T>A | CA486173091 | SOS2 | c.3279A>T (p.Pro1093=) c.3180A>T (p.Pro1060=) c.3099A>T (p.Pro1033=) c.3240A>T (p.Pro1080=) | |
14 | g.50130559T>C | CA486173090 | SOS2 | c.3279A>G (p.Pro1093=) c.3180A>G (p.Pro1060=) c.3099A>G (p.Pro1033=) c.3240A>G (p.Pro1080=) | gnomAD v4 |
14 | g.50130559T>G | CA260714002 | SOS2 | c.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 |
14 | g.50130559T= | CA2136058817 | SOS2 | c.3279A= (p.Pro1093=) c.3180A= (p.Pro1060=) c.3099A= (p.Pro1033=) c.3240A= (p.Pro1080=) | |
14 | g.50130560G>A | CA389640452 | SOS2 | c.3278C>T (p.Pro1093Leu) c.3179C>T (p.Pro1060Leu) c.3098C>T (p.Pro1033Leu) c.3239C>T (p.Pro1080Leu) | gnomAD v4 |
14 | g.50130560G>C | CA389640453 | SOS2 | c.3278C>G (p.Pro1093Arg) c.3179C>G (p.Pro1060Arg) c.3098C>G (p.Pro1033Arg) c.3239C>G (p.Pro1080Arg) | |
14 | g.50130560G>T | CA389640454 | SOS2 | c.3278C>A (p.Pro1093Gln) c.3179C>A (p.Pro1060Gln) c.3098C>A (p.Pro1033Gln) c.3239C>A (p.Pro1080Gln) | dbSNP gnomAD v4 |
14 | g.50130561G>A | CA7176848 | SOS2 | c.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 |
14 | g.50130561G>C | CA7176847 | SOS2 | c.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 |
14 | g.50130561G= | CA2136058818 | SOS2 | c.3277C= (p.Pro1093=) c.3178C= (p.Pro1060=) c.3097C= (p.Pro1033=) c.3238C= (p.Pro1080=) | |
14 | g.50130561G>T | CA389640455 | SOS2 | c.3277C>A (p.Pro1093Thr) c.3178C>A (p.Pro1060Thr) c.3097C>A (p.Pro1033Thr) c.3238C>A (p.Pro1080Thr) | |
14 | g.50130562T>A | CA486173092 | SOS2 | c.3276A>T (p.Pro1092=) c.3177A>T (p.Pro1059=) c.3096A>T (p.Pro1032=) c.3237A>T (p.Pro1079=) | |
14 | g.50130562T>C | CA486173093 | SOS2 | c.3276A>G (p.Pro1092=) c.3177A>G (p.Pro1059=) c.3096A>G (p.Pro1032=) c.3237A>G (p.Pro1079=) | |
14 | g.50130562T>G | CA486173094 | SOS2 | c.3276A>C (p.Pro1092=) c.3177A>C (p.Pro1059=) c.3096A>C (p.Pro1032=) c.3237A>C (p.Pro1079=) | ClinVar gnomAD v4 |
14 | g.50130563G>A | CA389640456 | SOS2 | c.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 |
14 | g.50130563G>C | CA389640458 | SOS2 | c.3275C>G (p.Pro1092Arg) c.3176C>G (p.Pro1059Arg) c.3095C>G (p.Pro1032Arg) c.3236C>G (p.Pro1079Arg) | |
14 | g.50130563G= | CA2136058819 | SOS2 | c.3275C= (p.Pro1092=) c.3176C= (p.Pro1059=) c.3095C= (p.Pro1032=) c.3236C= (p.Pro1079=) | |
14 | g.50130563G>T | CA389640457 | SOS2 | c.3275C>A (p.Pro1092Gln) c.3176C>A (p.Pro1059Gln) c.3095C>A (p.Pro1032Gln) c.3236C>A (p.Pro1079Gln) | |
14 | g.50130564G>A | CA389640459 | SOS2 | c.3274C>T (p.Pro1092Ser) c.3175C>T (p.Pro1059Ser) c.3094C>T (p.Pro1032Ser) c.3235C>T (p.Pro1079Ser) | gnomAD v4 |
14 | g.50130564G>C | CA389640462 | SOS2 | c.3274C>G (p.Pro1092Ala) c.3175C>G (p.Pro1059Ala) c.3094C>G (p.Pro1032Ala) c.3235C>G (p.Pro1079Ala) | |
14 | g.50130564G>T | CA389640460 | SOS2 | c.3274C>A (p.Pro1092Thr) c.3175C>A (p.Pro1059Thr) c.3094C>A (p.Pro1032Thr) c.3235C>A (p.Pro1079Thr) | |
14 | g.50130565A>C | CA486173096 | SOS2 | c.3273T>G (p.Thr1091=) c.3174T>G (p.Thr1058=) c.3093T>G (p.Thr1031=) c.3234T>G (p.Thr1078=) | |
14 | g.50130565A>G | CA486173097 | SOS2 | c.3273T>C (p.Thr1091=) c.3174T>C (p.Thr1058=) c.3093T>C (p.Thr1031=) c.3234T>C (p.Thr1078=) | gnomAD v4 |
14 | g.50130565A>T | CA486173098 | SOS2 | c.3273T>A (p.Thr1091=) c.3174T>A (p.Thr1058=) c.3093T>A (p.Thr1031=) c.3234T>A (p.Thr1078=) | |
14 | g.50130566G>A | CA389640463 | SOS2 | c.3272C>T (p.Thr1091Ile) c.3173C>T (p.Thr1058Ile) c.3092C>T (p.Thr1031Ile) c.3233C>T (p.Thr1078Ile) | dbSNP gnomAD v4 |
14 | g.50130566G>C | CA389640464 | SOS2 | c.3272C>G (p.Thr1091Ser) c.3173C>G (p.Thr1058Ser) c.3092C>G (p.Thr1031Ser) c.3233C>G (p.Thr1078Ser) | |
14 | g.50130566G= | CA2136058820 | SOS2 | c.3272C= (p.Thr1091=) c.3173C= (p.Thr1058=) c.3092C= (p.Thr1031=) c.3233C= (p.Thr1078=) | |
14 | g.50130566G>T | CA389640465 | SOS2 | c.3272C>A (p.Thr1091Asn) c.3173C>A (p.Thr1058Asn) c.3092C>A (p.Thr1031Asn) c.3233C>A (p.Thr1078Asn) | |
14 | g.50130567T>A | CA389640467 | SOS2 | c.3271A>T (p.Thr1091Ser) c.3172A>T (p.Thr1058Ser) c.3091A>T (p.Thr1031Ser) c.3232A>T (p.Thr1078Ser) | ClinVar dbSNP gnomAD v4 |
14 | g.50130567T>C | CA389640469 | SOS2 | c.3271A>G (p.Thr1091Ala) c.3172A>G (p.Thr1058Ala) c.3091A>G (p.Thr1031Ala) c.3232A>G (p.Thr1078Ala) | ClinVar dbSNP |
14 | g.50130567T>G | CA389640471 | SOS2 | c.3271A>C (p.Thr1091Pro) c.3172A>C (p.Thr1058Pro) c.3091A>C (p.Thr1031Pro) c.3232A>C (p.Thr1078Pro) | |
14 | g.50130567T= | CA2136058821 | SOS2 | c.3271A= (p.Thr1091=) c.3172A= (p.Thr1058=) c.3091A= (p.Thr1031=) c.3232A= (p.Thr1078=) | |
14 | g.50130568A>C | CA486173100 | SOS2 | c.3270T>G (p.Ser1090=) c.3171T>G (p.Ser1057=) c.3090T>G (p.Ser1030=) c.3231T>G (p.Ser1077=) | |
14 | g.50130568A>G | CA486173101 | SOS2 | c.3270T>C (p.Ser1090=) c.3171T>C (p.Ser1057=) c.3090T>C (p.Ser1030=) c.3231T>C (p.Ser1077=) | |
14 | g.50130568A>T | CA486173102 | SOS2 | c.3270T>A (p.Ser1090=) c.3171T>A (p.Ser1057=) c.3090T>A (p.Ser1030=) c.3231T>A (p.Ser1077=) | gnomAD v4 |
14 | g.50130569G>A | CA389640473 | SOS2 | c.3269C>T (p.Ser1090Phe) c.3170C>T (p.Ser1057Phe) c.3089C>T (p.Ser1030Phe) c.3230C>T (p.Ser1077Phe) | gnomAD v4 |
14 | g.50130569G>C | CA389640475 | SOS2 | c.3269C>G (p.Ser1090Cys) c.3170C>G (p.Ser1057Cys) c.3089C>G (p.Ser1030Cys) c.3230C>G (p.Ser1077Cys) | gnomAD v4 |
14 | g.50130569G>T | CA389640476 | SOS2 | c.3269C>A (p.Ser1090Tyr) c.3170C>A (p.Ser1057Tyr) c.3089C>A (p.Ser1030Tyr) c.3230C>A (p.Ser1077Tyr) | |
14 | g.50130570A>C | CA389640478 | SOS2 | c.3268T>G (p.Ser1090Ala) c.3169T>G (p.Ser1057Ala) c.3088T>G (p.Ser1030Ala) c.3229T>G (p.Ser1077Ala) | |
14 | g.50130570A>G | CA389640479 | SOS2 | c.3268T>C (p.Ser1090Pro) c.3169T>C (p.Ser1057Pro) c.3088T>C (p.Ser1030Pro) c.3229T>C (p.Ser1077Pro) | |
14 | g.50130570A>T | CA389640481 | SOS2 | c.3268T>A (p.Ser1090Thr) c.3169T>A (p.Ser1057Thr) c.3088T>A (p.Ser1030Thr) c.3229T>A (p.Ser1077Thr) | |
14 | g.50130571T>A | CA486173105 | SOS2 | c.3267A>T (p.Pro1089=) c.3168A>T (p.Pro1056=) c.3087A>T (p.Pro1029=) c.3228A>T (p.Pro1076=) | |
14 | g.50130571T>C | CA7176849 | SOS2 | c.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 |
14 | g.50130571T>G | CA486173104 | SOS2 | c.3267A>C (p.Pro1089=) c.3168A>C (p.Pro1056=) c.3087A>C (p.Pro1029=) c.3228A>C (p.Pro1076=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50130571T= | CA2136058822 | SOS2 | c.3267A= (p.Pro1089=) c.3168A= (p.Pro1056=) c.3087A= (p.Pro1029=) c.3228A= (p.Pro1076=) | |
14 | g.50130572G>A | CA389640484 | SOS2 | c.3266C>T (p.Pro1089Leu) c.3167C>T (p.Pro1056Leu) c.3086C>T (p.Pro1029Leu) c.3227C>T (p.Pro1076Leu) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50130572G>C | CA389640486 | SOS2 | c.3266C>G (p.Pro1089Arg) c.3167C>G (p.Pro1056Arg) c.3086C>G (p.Pro1029Arg) c.3227C>G (p.Pro1076Arg) | |
14 | g.50130572G= | CA2136058823 | SOS2 | c.3266C= (p.Pro1089=) c.3167C= (p.Pro1056=) c.3086C= (p.Pro1029=) c.3227C= (p.Pro1076=) | |
14 | g.50130572G>T | CA389640487 | SOS2 | c.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 |
14 | g.50130573G>A | CA389640488 | SOS2 | c.3265C>T (p.Pro1089Ser) c.3166C>T (p.Pro1056Ser) c.3085C>T (p.Pro1029Ser) c.3226C>T (p.Pro1076Ser) | gnomAD v4 |
14 | g.50130573G>C | CA389640489 | SOS2 | c.3265C>G (p.Pro1089Ala) c.3166C>G (p.Pro1056Ala) c.3085C>G (p.Pro1029Ala) c.3226C>G (p.Pro1076Ala) | |
14 | g.50130573G>T | CA389640490 | SOS2 | c.3265C>A (p.Pro1089Thr) c.3166C>A (p.Pro1056Thr) c.3085C>A (p.Pro1029Thr) c.3226C>A (p.Pro1076Thr) | |
14 | g.50130574T>A | CA486173110 | SOS2 | c.3264A>T (p.Thr1088=) c.3165A>T (p.Thr1055=) c.3084A>T (p.Thr1028=) c.3225A>T (p.Thr1075=) | |
14 | g.50130574T>C | CA486173109 | SOS2 | c.3264A>G (p.Thr1088=) c.3165A>G (p.Thr1055=) c.3084A>G (p.Thr1028=) c.3225A>G (p.Thr1075=) | |
14 | g.50130574T>G | CA486173108 | SOS2 | c.3264A>C (p.Thr1088=) c.3165A>C (p.Thr1055=) c.3084A>C (p.Thr1028=) c.3225A>C (p.Thr1075=) | |
14 | g.50130575G>A | CA7176850 | SOS2 | c.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 |
14 | g.50130575G>C | CA389640491 | SOS2 | c.3263C>G (p.Thr1088Arg) c.3164C>G (p.Thr1055Arg) c.3083C>G (p.Thr1028Arg) c.3224C>G (p.Thr1075Arg) | |
14 | g.50130575G= | CA2136058824 | SOS2 | c.3263C= (p.Thr1088=) c.3164C= (p.Thr1055=) c.3083C= (p.Thr1028=) c.3224C= (p.Thr1075=) | |
14 | g.50130575G>T | CA389640493 | SOS2 | c.3263C>A (p.Thr1088Lys) c.3164C>A (p.Thr1055Lys) c.3083C>A (p.Thr1028Lys) c.3224C>A (p.Thr1075Lys) | |
14 | g.50130576T>A | CA389640495 | SOS2 | c.3262A>T (p.Thr1088Ser) c.3163A>T (p.Thr1055Ser) c.3082A>T (p.Thr1028Ser) c.3223A>T (p.Thr1075Ser) | |
14 | g.50130576T>C | CA260714041 | SOS2 | c.3262A>G (p.Thr1088Ala) c.3163A>G (p.Thr1055Ala) c.3082A>G (p.Thr1028Ala) c.3223A>G (p.Thr1075Ala) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50130576T>G | CA389640498 | SOS2 | c.3262A>C (p.Thr1088Pro) c.3163A>C (p.Thr1055Pro) c.3082A>C (p.Thr1028Pro) c.3223A>C (p.Thr1075Pro) | gnomAD v4 |
14 | g.50130576T= | CA2136058825 | SOS2 | c.3262A= (p.Thr1088=) c.3163A= (p.Thr1055=) c.3082A= (p.Thr1028=) c.3223A= (p.Thr1075=) | |
14 | g.50130577A>C | CA389640500 | SOS2 | c.3261T>G (p.Asn1087Lys) c.3162T>G (p.Asn1054Lys) c.3081T>G (p.Asn1027Lys) c.3222T>G (p.Asn1074Lys) | |
14 | g.50130577A>G | CA486173112 | SOS2 | c.3261T>C (p.Asn1087=) c.3162T>C (p.Asn1054=) c.3081T>C (p.Asn1027=) c.3222T>C (p.Asn1074=) | |
14 | g.50130577A>T | CA389640502 | SOS2 | c.3261T>A (p.Asn1087Lys) c.3162T>A (p.Asn1054Lys) c.3081T>A (p.Asn1027Lys) c.3222T>A (p.Asn1074Lys) | |
14 | g.50130578T>A | CA389640504 | SOS2 | c.3260A>T (p.Asn1087Ile) c.3161A>T (p.Asn1054Ile) c.3080A>T (p.Asn1027Ile) c.3221A>T (p.Asn1074Ile) | |
14 | g.50130578T>C | CA389640508 | SOS2 | c.3260A>G (p.Asn1087Ser) c.3161A>G (p.Asn1054Ser) c.3080A>G (p.Asn1027Ser) c.3221A>G (p.Asn1074Ser) | ClinVar dbSNP gnomAD v4 |
14 | g.50130578T>G | CA389640506 | SOS2 | c.3260A>C (p.Asn1087Thr) c.3161A>C (p.Asn1054Thr) c.3080A>C (p.Asn1027Thr) c.3221A>C (p.Asn1074Thr) | |
14 | g.50130578T= | CA2136058826 | SOS2 | c.3260A= (p.Asn1087=) c.3161A= (p.Asn1054=) c.3080A= (p.Asn1027=) c.3221A= (p.Asn1074=) | |
14 | g.50130579T>A | CA389640510 | SOS2 | c.3259A>T (p.Asn1087Tyr) c.3160A>T (p.Asn1054Tyr) c.3079A>T (p.Asn1027Tyr) c.3220A>T (p.Asn1074Tyr) | |
14 | g.50130579T>C | CA389640512 | SOS2 | c.3259A>G (p.Asn1087Asp) c.3160A>G (p.Asn1054Asp) c.3079A>G (p.Asn1027Asp) c.3220A>G (p.Asn1074Asp) | |
14 | g.50130579T>G | CA389640514 | SOS2 | c.3259A>C (p.Asn1087His) c.3160A>C (p.Asn1054His) c.3079A>C (p.Asn1027His) c.3220A>C (p.Asn1074His) | |
14 | g.50130580T>A | CA486173113 | SOS2 | c.3258A>T (p.Pro1086=) c.3159A>T (p.Pro1053=) c.3078A>T (p.Pro1026=) c.3219A>T (p.Pro1073=) | |
14 | g.50130580T>C | CA486173114 | SOS2 | c.3258A>G (p.Pro1086=) c.3159A>G (p.Pro1053=) c.3078A>G (p.Pro1026=) c.3219A>G (p.Pro1073=) | gnomAD v4 |
14 | g.50130580T>G | CA486173115 | SOS2 | c.3258A>C (p.Pro1086=) c.3159A>C (p.Pro1053=) c.3078A>C (p.Pro1026=) c.3219A>C (p.Pro1073=) | |
14 | g.50130581G>A | CA389640516 | SOS2 | c.3257C>T (p.Pro1086Leu) c.3158C>T (p.Pro1053Leu) c.3077C>T (p.Pro1026Leu) c.3218C>T (p.Pro1073Leu) | dbSNP |
14 | g.50130581G>C | CA389640518 | SOS2 | c.3257C>G (p.Pro1086Arg) c.3158C>G (p.Pro1053Arg) c.3077C>G (p.Pro1026Arg) c.3218C>G (p.Pro1073Arg) | |
14 | g.50130581G= | CA2136058827 | SOS2 | c.3257C= (p.Pro1086=) c.3158C= (p.Pro1053=) c.3077C= (p.Pro1026=) c.3218C= (p.Pro1073=) | |
14 | g.50130581G>T | CA389640520 | SOS2 | c.3257C>A (p.Pro1086Gln) c.3158C>A (p.Pro1053Gln) c.3077C>A (p.Pro1026Gln) c.3218C>A (p.Pro1073Gln) | |
14 | g.50130582G>A | CA7176851 | SOS2 | c.3256C>T (p.Pro1086Ser) c.3157C>T (p.Pro1053Ser) c.3076C>T (p.Pro1026Ser) c.3217C>T (p.Pro1073Ser) | ClinVar dbSNP ExAC |
14 | g.50130582G>C | CA389640523 | SOS2 | c.3256C>G (p.Pro1086Ala) c.3157C>G (p.Pro1053Ala) c.3076C>G (p.Pro1026Ala) c.3217C>G (p.Pro1073Ala) | |
14 | g.50130582G= | CA2136058828 | SOS2 | c.3256C= (p.Pro1086=) c.3157C= (p.Pro1053=) c.3076C= (p.Pro1026=) c.3217C= (p.Pro1073=) | |
14 | g.50130582G>T | CA389640525 | SOS2 | c.3256C>A (p.Pro1086Thr) c.3157C>A (p.Pro1053Thr) c.3076C>A (p.Pro1026Thr) c.3217C>A (p.Pro1073Thr) | |
14 | g.50130583A>C | CA486173118 | SOS2 | c.3255T>G (p.Ser1085=) c.3156T>G (p.Ser1052=) c.3075T>G (p.Ser1025=) c.3216T>G (p.Ser1072=) | |
14 | g.50130583A>G | CA486173119 | SOS2 | c.3255T>C (p.Ser1085=) c.3156T>C (p.Ser1052=) c.3075T>C (p.Ser1025=) c.3216T>C (p.Ser1072=) | |
14 | g.50130583A>T | CA486173120 | SOS2 | c.3255T>A (p.Ser1085=) c.3156T>A (p.Ser1052=) c.3075T>A (p.Ser1025=) c.3216T>A (p.Ser1072=) | |
14 | g.50130584G>A | CA389640527 | SOS2 | c.3254C>T (p.Ser1085Phe) c.3155C>T (p.Ser1052Phe) c.3074C>T (p.Ser1025Phe) c.3215C>T (p.Ser1072Phe) | dbSNP |
14 | g.50130584G>C | CA389640529 | SOS2 | c.3254C>G (p.Ser1085Cys) c.3155C>G (p.Ser1052Cys) c.3074C>G (p.Ser1025Cys) c.3215C>G (p.Ser1072Cys) | |
14 | g.50130584G= | CA2136058829 | SOS2 | c.3254C= (p.Ser1085=) c.3155C= (p.Ser1052=) c.3074C= (p.Ser1025=) c.3215C= (p.Ser1072=) | |
14 | g.50130584G>T | CA389640531 | SOS2 | c.3254C>A (p.Ser1085Tyr) c.3155C>A (p.Ser1052Tyr) c.3074C>A (p.Ser1025Tyr) c.3215C>A (p.Ser1072Tyr) | |
14 | g.50130585A>C | CA389640538 | SOS2 | c.3253T>G (p.Ser1085Ala) c.3154T>G (p.Ser1052Ala) c.3073T>G (p.Ser1025Ala) c.3214T>G (p.Ser1072Ala) | |
14 | g.50130585A>G | CA389640533 | SOS2 | c.3253T>C (p.Ser1085Pro) c.3154T>C (p.Ser1052Pro) c.3073T>C (p.Ser1025Pro) c.3214T>C (p.Ser1072Pro) | |
14 | g.50130585A>T | CA389640535 | SOS2 | c.3253T>A (p.Ser1085Thr) c.3154T>A (p.Ser1052Thr) c.3073T>A (p.Ser1025Thr) c.3214T>A (p.Ser1072Thr) | |
14 | g.50130586G>A | CA486173124 | SOS2 | c.3252C>T (p.Thr1084=) c.3153C>T (p.Thr1051=) c.3072C>T (p.Thr1024=) c.3213C>T (p.Thr1071=) | |
14 | g.50130586G>C | CA486173125 | SOS2 | c.3252C>G (p.Thr1084=) c.3153C>G (p.Thr1051=) c.3072C>G (p.Thr1024=) c.3213C>G (p.Thr1071=) | gnomAD v4 |
14 | g.50130586G>T | CA486173126 | SOS2 | c.3252C>A (p.Thr1084=) c.3153C>A (p.Thr1051=) c.3072C>A (p.Thr1024=) c.3213C>A (p.Thr1071=) | |
14 | g.50130587G>A | CA389640540 | SOS2 | c.3251C>T (p.Thr1084Ile) c.3152C>T (p.Thr1051Ile) c.3071C>T (p.Thr1024Ile) c.3212C>T (p.Thr1071Ile) | ClinVar |
14 | g.50130587G>C | CA389640542 | SOS2 | c.3251C>G (p.Thr1084Ser) c.3152C>G (p.Thr1051Ser) c.3071C>G (p.Thr1024Ser) c.3212C>G (p.Thr1071Ser) | |
14 | g.50130587G>T | CA389640545 | SOS2 | c.3251C>A (p.Thr1084Asn) c.3152C>A (p.Thr1051Asn) c.3071C>A (p.Thr1024Asn) c.3212C>A (p.Thr1071Asn) | |
14 | g.50130588T>A | CA389640546 | SOS2 | c.3250A>T (p.Thr1084Ser) c.3151A>T (p.Thr1051Ser) c.3070A>T (p.Thr1024Ser) c.3211A>T (p.Thr1071Ser) | |
14 | g.50130588T>C | CA7176852 | SOS2 | c.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 |
14 | g.50130588T>G | CA260714055 | SOS2 | c.3250A>C (p.Thr1084Pro) c.3151A>C (p.Thr1051Pro) c.3070A>C (p.Thr1024Pro) c.3211A>C (p.Thr1071Pro) | ClinVar dbSNP gnomAD v4 |
14 | g.50130588T= | CA2136058830 | SOS2 | c.3250A= (p.Thr1084=) c.3151A= (p.Thr1051=) c.3070A= (p.Thr1024=) c.3211A= (p.Thr1071=) | |
14 | g.50130589T>A | CA486173237 | SOS2 | c.3249A>T (p.Pro1083=) c.3150A>T (p.Pro1050=) c.3069A>T (p.Pro1023=) c.3210A>T (p.Pro1070=) | COSMIC COSMIC |
14 | g.50130589T>C | CA486173238 | SOS2 | c.3249A>G (p.Pro1083=) c.3150A>G (p.Pro1050=) c.3069A>G (p.Pro1023=) c.3210A>G (p.Pro1070=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50130589T>G | CA486173239 | SOS2 | c.3249A>C (p.Pro1083=) c.3150A>C (p.Pro1050=) c.3069A>C (p.Pro1023=) c.3210A>C (p.Pro1070=) | |
14 | g.50130589T= | CA2136058831 | SOS2 | c.3249A= (p.Pro1083=) c.3150A= (p.Pro1050=) c.3069A= (p.Pro1023=) c.3210A= (p.Pro1070=) | |
14 | g.50130590G>A | CA389640550 | SOS2 | c.3248C>T (p.Pro1083Leu) c.3149C>T (p.Pro1050Leu) c.3068C>T (p.Pro1023Leu) c.3209C>T (p.Pro1070Leu) | |
14 | g.50130590G>C | CA389640552 | SOS2 | c.3248C>G (p.Pro1083Arg) c.3149C>G (p.Pro1050Arg) c.3068C>G (p.Pro1023Arg) c.3209C>G (p.Pro1070Arg) | |
14 | g.50130590G>T | CA389640555 | SOS2 | c.3248C>A (p.Pro1083Gln) c.3149C>A (p.Pro1050Gln) c.3068C>A (p.Pro1023Gln) c.3209C>A (p.Pro1070Gln) | |
14 | g.50130591G>A | CA389640556 | SOS2 | c.3247C>T (p.Pro1083Ser) c.3148C>T (p.Pro1050Ser) c.3067C>T (p.Pro1023Ser) c.3208C>T (p.Pro1070Ser) | ClinVar dbSNP gnomAD v4 |
14 | g.50130591G>C | CA260714059 | SOS2 | c.3247C>G (p.Pro1083Ala) c.3148C>G (p.Pro1050Ala) c.3067C>G (p.Pro1023Ala) c.3208C>G (p.Pro1070Ala) | dbSNP |
14 | g.50130591G= | CA2136058832 | SOS2 | c.3247C= (p.Pro1083=) c.3148C= (p.Pro1050=) c.3067C= (p.Pro1023=) c.3208C= (p.Pro1070=) | |
14 | g.50130591G>T | CA389640560 | SOS2 | c.3247C>A (p.Pro1083Thr) c.3148C>A (p.Pro1050Thr) c.3067C>A (p.Pro1023Thr) c.3208C>A (p.Pro1070Thr) | |
14 | g.50130592T>A | CA486173241 | SOS2 | c.3246A>T (p.Ala1082=) c.3147A>T (p.Ala1049=) c.3066A>T (p.Ala1022=) c.3207A>T (p.Ala1069=) | |
14 | g.50130592T>C | CA486173242 | SOS2 | c.3246A>G (p.Ala1082=) c.3147A>G (p.Ala1049=) c.3066A>G (p.Ala1022=) c.3207A>G (p.Ala1069=) | gnomAD v4 |
14 | g.50130592T>G | CA7176853 | SOS2 | c.3246A>C (p.Ala1082=) c.3147A>C (p.Ala1049=) c.3066A>C (p.Ala1022=) c.3207A>C (p.Ala1069=) | dbSNP ExAC |
14 | g.50130592T= | CA2136058833 | SOS2 | c.3246A= (p.Ala1082=) c.3147A= (p.Ala1049=) c.3066A= (p.Ala1022=) c.3207A= (p.Ala1069=) | |
14 | g.50130593G>A | CA389640566 | SOS2 | c.3245C>T (p.Ala1082Val) c.3146C>T (p.Ala1049Val) c.3065C>T (p.Ala1022Val) c.3206C>T (p.Ala1069Val) | |
14 | g.50130593G>C | CA389640564 | SOS2 | c.3245C>G (p.Ala1082Gly) c.3146C>G (p.Ala1049Gly) c.3065C>G (p.Ala1022Gly) c.3206C>G (p.Ala1069Gly) | |
14 | g.50130593G>T | CA389640567 | SOS2 | c.3245C>A (p.Ala1082Glu) c.3146C>A (p.Ala1049Glu) c.3065C>A (p.Ala1022Glu) c.3206C>A (p.Ala1069Glu) | |
14 | g.50130594C>A | CA389640570 | SOS2 | c.3244G>T (p.Ala1082Ser) c.3145G>T (p.Ala1049Ser) c.3064G>T (p.Ala1022Ser) c.3205G>T (p.Ala1069Ser) | |
14 | g.50130594C= | CA2136058835 | SOS2 | c.3244G= (p.Ala1082=) c.3145G= (p.Ala1049=) c.3064G= (p.Ala1022=) c.3205G= (p.Ala1069=) | |
14 | g.50130594C>G | CA389640573 | SOS2 | c.3244G>C (p.Ala1082Pro) c.3145G>C (p.Ala1049Pro) c.3064G>C (p.Ala1022Pro) c.3205G>C (p.Ala1069Pro) | |
14 | g.50130594C>T | CA389640572 | SOS2 | c.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 |
14 | g.50130595T>A | CA486173246 | SOS2 | c.3243A>T (p.Ser1081=) c.3144A>T (p.Ser1048=) c.3063A>T (p.Ser1021=) c.3204A>T (p.Ser1068=) | |
14 | g.50130595T>C | CA486173247 | SOS2 | c.3243A>G (p.Ser1081=) c.3144A>G (p.Ser1048=) c.3063A>G (p.Ser1021=) c.3204A>G (p.Ser1068=) | COSMIC COSMIC |
14 | g.50130595T>G | CA486173248 | SOS2 | c.3243A>C (p.Ser1081=) c.3144A>C (p.Ser1048=) c.3063A>C (p.Ser1021=) c.3204A>C (p.Ser1068=) | |
14 | g.50130596G>A | CA389640575 | SOS2 | c.3242C>T (p.Ser1081Leu) c.3143C>T (p.Ser1048Leu) c.3062C>T (p.Ser1021Leu) c.3203C>T (p.Ser1068Leu) | |
14 | g.50130596G>C | CA389640577 | SOS2 | c.3242C>G (p.Ser1081Ter) c.3143C>G (p.Ser1048Ter) c.3062C>G (p.Ser1021Ter) c.3203C>G (p.Ser1068Ter) | |
14 | g.50130596G>T | CA389640579 | SOS2 | c.3242C>A (p.Ser1081Ter) c.3143C>A (p.Ser1048Ter) c.3062C>A (p.Ser1021Ter) c.3203C>A (p.Ser1068Ter) | |
14 | g.50130597A= | CA2136058837 | SOS2 | c.3241T= (p.Ser1081=) c.3142T= (p.Ser1048=) c.3061T= (p.Ser1021=) c.3202T= (p.Ser1068=) | |
14 | g.50130597A>C | CA389640581 | SOS2 | c.3241T>G (p.Ser1081Ala) c.3142T>G (p.Ser1048Ala) c.3061T>G (p.Ser1021Ala) c.3202T>G (p.Ser1068Ala) | dbSNP |
14 | g.50130597A>G | CA389640583 | SOS2 | c.3241T>C (p.Ser1081Pro) c.3142T>C (p.Ser1048Pro) c.3061T>C (p.Ser1021Pro) c.3202T>C (p.Ser1068Pro) | |
14 | g.50130597A>T | CA389640585 | SOS2 | c.3241T>A (p.Ser1081Thr) c.3142T>A (p.Ser1048Thr) c.3061T>A (p.Ser1021Thr) c.3202T>A (p.Ser1068Thr) | |
14 | g.50130598C>A | CA486173252 | SOS2 | c.3240G>T (p.Val1080=) c.3141G>T (p.Val1047=) c.3060G>T (p.Val1020=) c.3201G>T (p.Val1067=) | |
14 | g.50130598C>G | CA486173250 | SOS2 | c.3240G>C (p.Val1080=) c.3141G>C (p.Val1047=) c.3060G>C (p.Val1020=) c.3201G>C (p.Val1067=) | |
14 | g.50130598C>T | CA486173249 | SOS2 | c.3240G>A (p.Val1080=) c.3141G>A (p.Val1047=) c.3060G>A (p.Val1020=) c.3201G>A (p.Val1067=) | |
14 | g.50130599A>C | CA389640591 | SOS2 | c.3239T>G (p.Val1080Gly) c.3140T>G (p.Val1047Gly) c.3059T>G (p.Val1020Gly) c.3200T>G (p.Val1067Gly) | |
14 | g.50130599A>G | CA389640589 | SOS2 | c.3239T>C (p.Val1080Ala) c.3140T>C (p.Val1047Ala) c.3059T>C (p.Val1020Ala) c.3200T>C (p.Val1067Ala) | |
14 | g.50130599A>T | CA389640587 | SOS2 | c.3239T>A (p.Val1080Glu) c.3140T>A (p.Val1047Glu) c.3059T>A (p.Val1020Glu) c.3200T>A (p.Val1067Glu) | |
14 | g.50130600C>A | CA389640593 | SOS2 | c.3238G>T (p.Val1080Leu) c.3139G>T (p.Val1047Leu) c.3058G>T (p.Val1020Leu) c.3199G>T (p.Val1067Leu) | |
14 | g.50130600C>G | CA389640595 | SOS2 | c.3238G>C (p.Val1080Leu) c.3139G>C (p.Val1047Leu) c.3058G>C (p.Val1020Leu) c.3199G>C (p.Val1067Leu) | |
14 | g.50130600C>T | CA389640597 | SOS2 | c.3238G>A (p.Val1080Met) c.3139G>A (p.Val1047Met) c.3058G>A (p.Val1020Met) c.3199G>A (p.Val1067Met) | |
14 | g.50130600_50130602delinsCTG | CA2136058838 | SOS2 | c.3236_3238delinsCAG (p.Thr1079=) c.3137_3139delinsCAG (p.Thr1046=) c.3056_3058delinsCAG (p.Thr1019=) c.3197_3199delinsCAG (p.Thr1066=) | |
14 | g.50130601T>A | CA486173253 | SOS2 | c.3237A>T (p.Thr1079=) c.3138A>T (p.Thr1046=) c.3057A>T (p.Thr1019=) c.3198A>T (p.Thr1066=) | |
14 | g.50130601T>C | CA486173254 | SOS2 | c.3237A>G (p.Thr1079=) c.3138A>G (p.Thr1046=) c.3057A>G (p.Thr1019=) c.3198A>G (p.Thr1066=) | ClinVar |
14 | g.50130601T>G | CA486173255 | SOS2 | c.3237A>C (p.Thr1079=) c.3138A>C (p.Thr1046=) c.3057A>C (p.Thr1019=) c.3198A>C (p.Thr1066=) | |
14 | g.50130602_50130603del | CA962993894 | SOS2 | c.3236_3237del (p.Thr1079SerfsTer22) c.3137_3138del (p.Thr1046SerfsTer22) c.3056_3057del (p.Thr1019SerfsTer22) c.3197_3198del (p.Thr1066SerfsTer22) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50130602G>A | CA389640599 | SOS2 | c.3236C>T (p.Thr1079Ile) c.3137C>T (p.Thr1046Ile) c.3056C>T (p.Thr1019Ile) c.3197C>T (p.Thr1066Ile) | |
14 | g.50130602G>C | CA389640601 | SOS2 | c.3236C>G (p.Thr1079Arg) c.3137C>G (p.Thr1046Arg) c.3056C>G (p.Thr1019Arg) c.3197C>G (p.Thr1066Arg) | |
14 | g.50130602G>T | CA389640603 | SOS2 | c.3236C>A (p.Thr1079Lys) c.3137C>A (p.Thr1046Lys) c.3056C>A (p.Thr1019Lys) c.3197C>A (p.Thr1066Lys) | |
14 | g.50130603T>A | CA389640605 | SOS2 | c.3235A>T (p.Thr1079Ser) c.3136A>T (p.Thr1046Ser) c.3055A>T (p.Thr1019Ser) c.3196A>T (p.Thr1066Ser) | |
14 | g.50130603T>C | CA7176854 | SOS2 | c.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 |
14 | g.50130603T>G | CA389640606 | SOS2 | c.3235A>C (p.Thr1079Pro) c.3136A>C (p.Thr1046Pro) c.3055A>C (p.Thr1019Pro) c.3196A>C (p.Thr1066Pro) | |
14 | g.50130603T= | CA2136058847 | SOS2 | c.3235A= (p.Thr1079=) c.3136A= (p.Thr1046=) c.3055A= (p.Thr1019=) c.3196A= (p.Thr1066=) | |
14 | g.50130604T>A | CA486173259 | SOS2 | c.3234A>T (p.Ser1078=) c.3135A>T (p.Ser1045=) c.3054A>T (p.Ser1018=) c.3195A>T (p.Ser1065=) | |
14 | g.50130604T>C | CA486173261 | SOS2 | c.3234A>G (p.Ser1078=) c.3135A>G (p.Ser1045=) c.3054A>G (p.Ser1018=) c.3195A>G (p.Ser1065=) | |
14 | g.50130604T>G | CA486173260 | SOS2 | c.3234A>C (p.Ser1078=) c.3135A>C (p.Ser1045=) c.3054A>C (p.Ser1018=) c.3195A>C (p.Ser1065=) | |
14 | g.50130605G>A | CA389640609 | SOS2 | c.3233C>T (p.Ser1078Leu) c.3134C>T (p.Ser1045Leu) c.3053C>T (p.Ser1018Leu) c.3194C>T (p.Ser1065Leu) | |
14 | g.50130605G>C | CA389640611 | SOS2 | c.3233C>G (p.Ser1078Ter) c.3134C>G (p.Ser1045Ter) c.3053C>G (p.Ser1018Ter) c.3194C>G (p.Ser1065Ter) | |
14 | g.50130605G>T | CA389640613 | SOS2 | c.3233C>A (p.Ser1078Ter) c.3134C>A (p.Ser1045Ter) c.3053C>A (p.Ser1018Ter) c.3194C>A (p.Ser1065Ter) |