Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53382279G>A | CA10420302 | SMC1A | c.3390C>T (p.Gly1130=) c.2622C>T (p.Gly874=) c.3324C>T (p.Gly1108=) n.246C>T c.680C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.53382279G>C | CA516688000 | SMC1A | c.3390C>G (p.Gly1130=) c.2622C>G (p.Gly874=) c.3324C>G (p.Gly1108=) n.246C>G c.680C>G | |
X | g.53382279G= | CA2429817408 | SMC1A | c.3390C= (p.Gly1130=) c.2622C= (p.Gly874=) c.3324C= (p.Gly1108=) n.246C= c.680C= | |
X | g.53382279G>T | CA516688001 | SMC1A | c.3390C>A (p.Gly1130=) c.2622C>A (p.Gly874=) c.3324C>A (p.Gly1108=) n.246C>A c.680C>A | |
X | g.53382280C>A | CA413243325 | SMC1A | c.3389G>T (p.Gly1130Val) c.2621G>T (p.Gly874Val) c.3323G>T (p.Gly1108Val) n.245G>T c.679G>T | |
X | g.53382280C>G | CA413243327 | SMC1A | c.3389G>C (p.Gly1130Ala) c.2621G>C (p.Gly874Ala) c.3323G>C (p.Gly1108Ala) n.245G>C c.679G>C | |
X | g.53382280C>T | CA413243326 | SMC1A | c.3389G>A (p.Gly1130Asp) c.2621G>A (p.Gly874Asp) c.3323G>A (p.Gly1108Asp) n.245G>A c.679G>A | |
X | g.53382281C>A | CA413243328 | SMC1A | c.3388G>T (p.Gly1130Cys) c.2620G>T (p.Gly874Cys) c.3322G>T (p.Gly1108Cys) n.244G>T c.678G>T | |
X | g.53382281C>G | CA413243329 | SMC1A | c.3388G>C (p.Gly1130Arg) c.2620G>C (p.Gly874Arg) c.3322G>C (p.Gly1108Arg) n.244G>C c.678G>C | |
X | g.53382281C>T | CA413243330 | SMC1A | c.3388G>A (p.Gly1130Ser) c.2620G>A (p.Gly874Ser) c.3322G>A (p.Gly1108Ser) n.244G>A c.678G>A | |
X | g.53382282T>A | CA516688002 | SMC1A | c.3387A>T (p.Ser1129=) c.2619A>T (p.Ser873=) c.3321A>T (p.Ser1107=) n.243A>T c.677A>T | |
X | g.53382282T>C | CA516688003 | SMC1A | c.3387A>G (p.Ser1129=) c.2619A>G (p.Ser873=) c.3321A>G (p.Ser1107=) n.243A>G c.677A>G | |
X | g.53382282T>G | CA516688004 | SMC1A | c.3387A>C (p.Ser1129=) c.2619A>C (p.Ser873=) c.3321A>C (p.Ser1107=) n.243A>C c.677A>C | |
X | g.53382283G>A | CA413243331 | SMC1A | c.3386C>T (p.Ser1129Leu) c.2618C>T (p.Ser873Leu) c.3320C>T (p.Ser1107Leu) n.242C>T c.676C>T | COSMIC |
X | g.53382283G>C | CA413243332 | SMC1A | c.3386C>G (p.Ser1129Ter) c.2618C>G (p.Ser873Ter) c.3320C>G (p.Ser1107Ter) n.242C>G c.676C>G | |
X | g.53382283G>T | CA413243333 | SMC1A | c.3386C>A (p.Ser1129Ter) c.2618C>A (p.Ser873Ter) c.3320C>A (p.Ser1107Ter) n.242C>A c.676C>A | |
X | g.53382284A>C | CA413243334 | SMC1A | c.3385T>G (p.Ser1129Ala) c.2617T>G (p.Ser873Ala) c.3319T>G (p.Ser1107Ala) n.241T>G c.675T>G | |
X | g.53382284A>G | CA413243335 | SMC1A | c.3385T>C (p.Ser1129Pro) c.2617T>C (p.Ser873Pro) c.3319T>C (p.Ser1107Pro) n.241T>C c.675T>C | |
X | g.53382284A>T | CA413243336 | SMC1A | c.3385T>A (p.Ser1129Thr) c.2617T>A (p.Ser873Thr) c.3319T>A (p.Ser1107Thr) n.241T>A c.675T>A | |
X | g.53382285C>A | CA413243337 | SMC1A | c.3384G>T (p.Leu1128Phe) c.2616G>T (p.Leu872Phe) c.3318G>T (p.Leu1106Phe) n.240G>T c.674G>T | |
X | g.53382285C>G | CA413243338 | SMC1A | c.3384G>C (p.Leu1128Phe) c.2616G>C (p.Leu872Phe) c.3318G>C (p.Leu1106Phe) n.240G>C c.674G>C | |
X | g.53382285C>T | CA516688005 | SMC1A | c.3384G>A (p.Leu1128=) c.2616G>A (p.Leu872=) c.3318G>A (p.Leu1106=) n.240G>A c.674G>A | |
X | g.53382286A>C | CA413243342 | SMC1A | c.3383T>G (p.Leu1128Trp) c.2615T>G (p.Leu872Trp) c.3317T>G (p.Leu1106Trp) n.239T>G c.673T>G | |
X | g.53382286A>G | CA413243340 | SMC1A | c.3383T>C (p.Leu1128Ser) c.2615T>C (p.Leu872Ser) c.3317T>C (p.Leu1106Ser) n.239T>C c.673T>C | |
X | g.53382286A>T | CA413243339 | SMC1A | c.3383T>A (p.Leu1128Ter) c.2615T>A (p.Leu872Ter) c.3317T>A (p.Leu1106Ter) n.239T>A c.673T>A | |
X | g.53382287A>C | CA413243344 | SMC1A | c.3382T>G (p.Leu1128Val) c.2614T>G (p.Leu872Val) c.3316T>G (p.Leu1106Val) n.238T>G c.672T>G | |
X | g.53382287A>G | CA516688006 | SMC1A | c.3382T>C (p.Leu1128=) c.2614T>C (p.Leu872=) c.3316T>C (p.Leu1106=) n.238T>C c.672T>C | |
X | g.53382287A>T | CA413243343 | SMC1A | c.3382T>A (p.Leu1128Met) c.2614T>A (p.Leu872Met) c.3316T>A (p.Leu1106Met) n.238T>A c.672T>A | |
X | g.53382288G>A | CA516688007 | SMC1A | c.3381C>T (p.Asn1127=) c.2613C>T (p.Asn871=) c.3315C>T (p.Asn1105=) n.237C>T c.671C>T | |
X | g.53382288G>C | CA413243345 | SMC1A | c.3381C>G (p.Asn1127Lys) c.2613C>G (p.Asn871Lys) c.3315C>G (p.Asn1105Lys) n.237C>G c.671C>G | |
X | g.53382288G>T | CA413243346 | SMC1A | c.3381C>A (p.Asn1127Lys) c.2613C>A (p.Asn871Lys) c.3315C>A (p.Asn1105Lys) n.237C>A c.671C>A | |
X | g.53382289T>A | CA413243347 | SMC1A | c.3380A>T (p.Asn1127Ile) c.2612A>T (p.Asn871Ile) c.3314A>T (p.Asn1105Ile) n.236A>T c.670A>T | |
X | g.53382289T>C | CA413243348 | SMC1A | c.3380A>G (p.Asn1127Ser) c.2612A>G (p.Asn871Ser) c.3314A>G (p.Asn1105Ser) n.236A>G c.670A>G | |
X | g.53382289T>G | CA413243349 | SMC1A | c.3380A>C (p.Asn1127Thr) c.2612A>C (p.Asn871Thr) c.3314A>C (p.Asn1105Thr) n.236A>C c.670A>C | |
X | g.53382290T>A | CA413243352 | SMC1A | c.3379A>T (p.Asn1127Tyr) c.2611A>T (p.Asn871Tyr) c.3313A>T (p.Asn1105Tyr) n.235A>T c.669A>T | |
X | g.53382290T>C | CA413243350 | SMC1A | c.3379A>G (p.Asn1127Asp) c.2611A>G (p.Asn871Asp) c.3313A>G (p.Asn1105Asp) n.235A>G c.669A>G | |
X | g.53382290T>G | CA413243351 | SMC1A | c.3379A>C (p.Asn1127His) c.2611A>C (p.Asn871His) c.3313A>C (p.Asn1105His) n.235A>C c.669A>C | |
X | g.53382291G>A | CA516688008 | SMC1A | c.3378C>T (p.Asp1126=) c.2610C>T (p.Asp870=) c.3312C>T (p.Asp1104=) n.234C>T c.668C>T | dbSNP gnomAD v2 gnomAD v4 |
X | g.53382291G>C | CA413243353 | SMC1A | c.3378C>G (p.Asp1126Glu) c.2610C>G (p.Asp870Glu) c.3312C>G (p.Asp1104Glu) n.234C>G c.668C>G | |
X | g.53382291G= | CA2429817409 | SMC1A | c.3378C= (p.Asp1126=) c.2610C= (p.Asp870=) c.3312C= (p.Asp1104=) n.234C= c.668C= | |
X | g.53382291G>T | CA413243354 | SMC1A | c.3378C>A (p.Asp1126Glu) c.2610C>A (p.Asp870Glu) c.3312C>A (p.Asp1104Glu) n.234C>A c.668C>A | |
X | g.53382292T>A | CA413243356 | SMC1A | c.3377A>T (p.Asp1126Val) c.2609A>T (p.Asp870Val) c.3311A>T (p.Asp1104Val) n.233A>T c.667A>T | |
X | g.53382292T>C | CA413243357 | SMC1A | c.3377A>G (p.Asp1126Gly) c.2609A>G (p.Asp870Gly) c.3311A>G (p.Asp1104Gly) n.233A>G c.667A>G | |
X | g.53382292T>G | CA413243358 | SMC1A | c.3377A>C (p.Asp1126Ala) c.2609A>C (p.Asp870Ala) c.3311A>C (p.Asp1104Ala) n.233A>C c.667A>C | |
X | g.53382293C>A | CA413243359 | SMC1A | c.3376G>T (p.Asp1126Tyr) c.2608G>T (p.Asp870Tyr) c.3310G>T (p.Asp1104Tyr) n.232G>T c.666G>T | |
X | g.53382293C>G | CA413243361 | SMC1A | c.3376G>C (p.Asp1126His) c.2608G>C (p.Asp870His) c.3310G>C (p.Asp1104His) n.232G>C c.666G>C | |
X | g.53382293C>T | CA413243360 | SMC1A | c.3376G>A (p.Asp1126Asn) c.2608G>A (p.Asp870Asn) c.3310G>A (p.Asp1104Asn) n.232G>A c.666G>A | |
X | g.53382294C>A | CA413243362 | SMC1A | c.3375G>T (p.Met1125Ile) c.2607G>T (p.Met869Ile) c.3309G>T (p.Met1103Ile) n.231G>T c.665G>T | |
X | g.53382294C>G | CA413243363 | SMC1A | c.3375G>C (p.Met1125Ile) c.2607G>C (p.Met869Ile) c.3309G>C (p.Met1103Ile) n.231G>C c.665G>C | |
X | g.53382294C>T | CA413243364 | SMC1A | c.3375G>A (p.Met1125Ile) c.2607G>A (p.Met869Ile) c.3309G>A (p.Met1103Ile) n.231G>A c.665G>A | |
X | g.53382295A>C | CA413243365 | SMC1A | c.3374T>G (p.Met1125Arg) c.2606T>G (p.Met869Arg) c.3308T>G (p.Met1103Arg) n.230T>G c.664T>G | |
X | g.53382295A>G | CA413243366 | SMC1A | c.3374T>C (p.Met1125Thr) c.2606T>C (p.Met869Thr) c.3308T>C (p.Met1103Thr) n.230T>C c.664T>C | ClinVar dbSNP |
X | g.53382295A>T | CA413243367 | SMC1A | c.3374T>A (p.Met1125Lys) c.2606T>A (p.Met869Lys) c.3308T>A (p.Met1103Lys) n.230T>A c.664T>A | |
X | g.53382296T>A | CA413243368 | SMC1A | c.3373A>T (p.Met1125Leu) c.2605A>T (p.Met869Leu) c.3307A>T (p.Met1103Leu) n.229A>T c.663A>T | |
X | g.53382296T>C | CA16044282 | SMC1A | c.3373A>G (p.Met1125Val) c.2605A>G (p.Met869Val) c.3307A>G (p.Met1103Val) n.229A>G c.663A>G | ClinVar dbSNP |
X | g.53382296T>G | CA413243369 | SMC1A | c.3373A>C (p.Met1125Leu) c.2605A>C (p.Met869Leu) c.3307A>C (p.Met1103Leu) n.229A>C c.663A>C | |
X | g.53382296T= | CA2429817410 | SMC1A | c.3373A= (p.Met1125=) c.2605A= (p.Met869=) c.3307A= (p.Met1103=) n.229A= c.663A= | |
X | g.53382297A>C | CA516688009 | SMC1A | c.3372T>G (p.Pro1124=) c.2604T>G (p.Pro868=) c.3306T>G (p.Pro1102=) n.228T>G c.662T>G | |
X | g.53382297A>G | CA516688010 | SMC1A | c.3372T>C (p.Pro1124=) c.2604T>C (p.Pro868=) c.3306T>C (p.Pro1102=) n.228T>C c.662T>C | |
X | g.53382297A>T | CA516688011 | SMC1A | c.3372T>A (p.Pro1124=) c.2604T>A (p.Pro868=) c.3306T>A (p.Pro1102=) n.228T>A c.662T>A | |
X | g.53382298G>A | CA413243370 | SMC1A | c.3371C>T (p.Pro1124Leu) c.2603C>T (p.Pro868Leu) c.3305C>T (p.Pro1102Leu) n.227C>T c.661C>T | ClinVar dbSNP |
X | g.53382298G>C | CA413243371 | SMC1A | c.3371C>G (p.Pro1124Arg) c.2603C>G (p.Pro868Arg) c.3305C>G (p.Pro1102Arg) n.227C>G c.661C>G | |
X | g.53382298G= | CA2429817411 | SMC1A | c.3371C= (p.Pro1124=) c.2603C= (p.Pro868=) c.3305C= (p.Pro1102=) n.227C= c.661C= | |
X | g.53382298G>T | CA413243372 | SMC1A | c.3371C>A (p.Pro1124His) c.2603C>A (p.Pro868His) c.3305C>A (p.Pro1102His) n.227C>A c.661C>A | |
X | g.53382299G>A | CA413243374 | SMC1A | c.3370C>T (p.Pro1124Ser) c.2602C>T (p.Pro868Ser) c.3304C>T (p.Pro1102Ser) n.226C>T c.660C>T | |
X | g.53382299G>C | CA413243375 | SMC1A | c.3370C>G (p.Pro1124Ala) c.2602C>G (p.Pro868Ala) c.3304C>G (p.Pro1102Ala) n.226C>G c.660C>G | |
X | g.53382299G>T | CA413243373 | SMC1A | c.3370C>A (p.Pro1124Thr) c.2602C>A (p.Pro868Thr) c.3304C>A (p.Pro1102Thr) n.226C>A c.660C>A | |
X | g.53382300C>A | CA516688012 | SMC1A | c.3369G>T (p.Arg1123=) c.2601G>T (p.Arg867=) c.3303G>T (p.Arg1101=) n.225G>T c.659G>T | |
X | g.53382300C>G | CA516688013 | SMC1A | c.3369G>C (p.Arg1123=) c.2601G>C (p.Arg867=) c.3303G>C (p.Arg1101=) n.225G>C c.659G>C | |
X | g.53382300C>T | CA516688014 | SMC1A | c.3369G>A (p.Arg1123=) c.2601G>A (p.Arg867=) c.3303G>A (p.Arg1101=) n.225G>A c.659G>A | |
X | g.53382301C>A | CA413243376 | SMC1A | c.3368G>T (p.Arg1123Leu) c.2600G>T (p.Arg867Leu) c.3302G>T (p.Arg1101Leu) n.224G>T c.658G>T | |
X | g.53382301C= | CA2429817412 | SMC1A | c.3368G= (p.Arg1123=) c.2600G= (p.Arg867=) c.3302G= (p.Arg1101=) n.224G= c.658G= | |
X | g.53382301C>G | CA413243378 | SMC1A | c.3368G>C (p.Arg1123Pro) c.2600G>C (p.Arg867Pro) c.3302G>C (p.Arg1101Pro) n.224G>C c.658G>C | |
X | g.53382301C>T | CA413243377 | SMC1A | c.3368G>A (p.Arg1123Gln) c.2600G>A (p.Arg867Gln) c.3302G>A (p.Arg1101Gln) n.224G>A c.658G>A | dbSNP |
X | g.53382302G>A | CA413243379 | SMC1A | c.3367C>T (p.Arg1123Trp) c.2599C>T (p.Arg867Trp) c.3301C>T (p.Arg1101Trp) n.223C>T c.657C>T | ClinVar dbSNP |
X | g.53382302G>C | CA413243380 | SMC1A | c.3367C>G (p.Arg1123Gly) c.2599C>G (p.Arg867Gly) c.3301C>G (p.Arg1101Gly) n.223C>G c.657C>G | |
X | g.53382302G>T | CA516688015 | SMC1A | c.3367C>A (p.Arg1123=) c.2599C>A (p.Arg867=) c.3301C>A (p.Arg1101=) n.223C>A c.657C>A | |
X | g.53382303G>A | CA516688016 | SMC1A | c.3366C>T (p.Phe1122=) c.2598C>T (p.Phe866=) c.3300C>T (p.Phe1100=) n.222C>T c.656C>T | |
X | g.53382303G>C | CA413243381 | SMC1A | c.3366C>G (p.Phe1122Leu) c.2598C>G (p.Phe866Leu) c.3300C>G (p.Phe1100Leu) n.222C>G c.656C>G | |
X | g.53382303G>T | CA413243382 | SMC1A | c.3366C>A (p.Phe1122Leu) c.2598C>A (p.Phe866Leu) c.3300C>A (p.Phe1100Leu) n.222C>A c.656C>A | |
X | g.53382304A>C | CA413243383 | SMC1A | c.3365T>G (p.Phe1122Cys) c.2597T>G (p.Phe866Cys) c.3299T>G (p.Phe1100Cys) n.221T>G c.655T>G | |
X | g.53382304A>G | CA413243384 | SMC1A | c.3365T>C (p.Phe1122Ser) c.2597T>C (p.Phe866Ser) c.3299T>C (p.Phe1100Ser) n.221T>C c.655T>C | |
X | g.53382304A>T | CA413243385 | SMC1A | c.3365T>A (p.Phe1122Tyr) c.2597T>A (p.Phe866Tyr) c.3299T>A (p.Phe1100Tyr) n.221T>A c.655T>A | |
X | g.53382305A= | CA2429817413 | SMC1A | c.3364T= (p.Phe1122=) c.2596T= (p.Phe866=) c.3298T= (p.Phe1100=) n.220T= c.654T= | |
X | g.53382305A>C | CA413243386 | SMC1A | c.3364T>G (p.Phe1122Val) c.2596T>G (p.Phe866Val) c.3298T>G (p.Phe1100Val) n.220T>G c.654T>G | dbSNP |
X | g.53382305A>G | CA413243387 | SMC1A | c.3364T>C (p.Phe1122Leu) c.2596T>C (p.Phe866Leu) c.3298T>C (p.Phe1100Leu) n.220T>C c.654T>C | |
X | g.53382305A>T | CA413243388 | SMC1A | c.3364T>A (p.Phe1122Ile) c.2596T>A (p.Phe866Ile) c.3298T>A (p.Phe1100Ile) n.220T>A c.654T>A | |
X | g.53382306G>A | CA516688017 | SMC1A | c.3363C>T (p.Arg1121=) c.2595C>T (p.Arg865=) c.3297C>T (p.Arg1099=) n.219C>T c.653C>T | |
X | g.53382306G>C | CA516688018 | SMC1A | c.3363C>G (p.Arg1121=) c.2595C>G (p.Arg865=) c.3297C>G (p.Arg1099=) n.219C>G c.653C>G | |
X | g.53382306G>T | CA516688019 | SMC1A | c.3363C>A (p.Arg1121=) c.2595C>A (p.Arg865=) c.3297C>A (p.Arg1099=) n.219C>A c.653C>A | |
X | g.53382307C>A | CA413243391 | SMC1A | c.3362G>T (p.Arg1121Leu) c.2594G>T (p.Arg865Leu) c.3296G>T (p.Arg1099Leu) n.218G>T c.652G>T | |
X | g.53382307C= | CA2429817414 | SMC1A | c.3362G= (p.Arg1121=) c.2594G= (p.Arg865=) c.3296G= (p.Arg1099=) n.218G= c.652G= | |
X | g.53382307C>G | CA413243390 | SMC1A | c.3362G>C (p.Arg1121Pro) c.2594G>C (p.Arg865Pro) c.3296G>C (p.Arg1099Pro) n.218G>C c.652G>C | |
X | g.53382307C>T | CA413243389 | SMC1A | c.3362G>A (p.Arg1121His) c.2594G>A (p.Arg865His) c.3296G>A (p.Arg1099His) n.218G>A c.652G>A | ClinVar dbSNP |
X | g.53382308G>A | CA413243392 | SMC1A | c.3361C>T (p.Arg1121Cys) c.2593C>T (p.Arg865Cys) c.3295C>T (p.Arg1099Cys) n.217C>T c.651C>T | |
X | g.53382308G>C | CA413243393 | SMC1A | c.3361C>G (p.Arg1121Gly) c.2593C>G (p.Arg865Gly) c.3295C>G (p.Arg1099Gly) n.217C>G c.651C>G | |
X | g.53382308G>T | CA413243394 | SMC1A | c.3361C>A (p.Arg1121Ser) c.2593C>A (p.Arg865Ser) c.3295C>A (p.Arg1099Ser) n.217C>A c.651C>A | |
X | g.53382309T>A | CA413243395 | SMC1A | c.3360A>T (p.Lys1120Asn) c.2592A>T (p.Lys864Asn) c.3294A>T (p.Lys1098Asn) n.216A>T c.650A>T | |
X | g.53382309T>C | CA516688020 | SMC1A | c.3360A>G (p.Lys1120=) c.2592A>G (p.Lys864=) c.3294A>G (p.Lys1098=) n.216A>G c.650A>G | |
X | g.53382309T>G | CA413243396 | SMC1A | c.3360A>C (p.Lys1120Asn) c.2592A>C (p.Lys864Asn) c.3294A>C (p.Lys1098Asn) n.216A>C c.650A>C | |
X | g.53382310T>A | CA413243397 | SMC1A | c.3359A>T (p.Lys1120Ile) c.2591A>T (p.Lys864Ile) c.3293A>T (p.Lys1098Ile) n.215A>T c.649A>T | |
X | g.53382310T>C | CA413243398 | SMC1A | c.3359A>G (p.Lys1120Arg) c.2591A>G (p.Lys864Arg) c.3293A>G (p.Lys1098Arg) n.215A>G c.649A>G | |
X | g.53382310T>G | CA413243399 | SMC1A | c.3359A>C (p.Lys1120Thr) c.2591A>C (p.Lys864Thr) c.3293A>C (p.Lys1098Thr) n.215A>C c.649A>C | |
X | g.53382311T>A | CA413243400 | SMC1A | c.3358A>T (p.Lys1120Ter) c.2590A>T (p.Lys864Ter) c.3292A>T (p.Lys1098Ter) n.214A>T c.648A>T | |
X | g.53382311T>C | CA413243401 | SMC1A | c.3358A>G (p.Lys1120Glu) c.2590A>G (p.Lys864Glu) c.3292A>G (p.Lys1098Glu) n.214A>G c.648A>G | |
X | g.53382311T>G | CA413243402 | SMC1A | c.3358A>C (p.Lys1120Gln) c.2590A>C (p.Lys864Gln) c.3292A>C (p.Lys1098Gln) n.214A>C c.648A>C | |
X | g.53382312C>A | CA516688021 | SMC1A | c.3357G>T (p.Gly1119=) c.2589G>T (p.Gly863=) c.3291G>T (p.Gly1097=) n.213G>T c.647G>T | |
X | g.53382312C>G | CA516688022 | SMC1A | c.3357G>C (p.Gly1119=) c.2589G>C (p.Gly863=) c.3291G>C (p.Gly1097=) n.213G>C c.647G>C | |
X | g.53382312C>T | CA516688023 | SMC1A | c.3357G>A (p.Gly1119=) c.2589G>A (p.Gly863=) c.3291G>A (p.Gly1097=) n.213G>A c.647G>A | |
X | g.53382313C>A | CA413243404 | SMC1A | c.3356G>T (p.Gly1119Val) c.2588G>T (p.Gly863Val) c.3290G>T (p.Gly1097Val) n.212G>T c.646G>T | |
X | g.53382313C>G | CA413243405 | SMC1A | c.3356G>C (p.Gly1119Ala) c.2588G>C (p.Gly863Ala) c.3290G>C (p.Gly1097Ala) n.212G>C c.646G>C | |
X | g.53382313C>T | CA413243403 | SMC1A | c.3356G>A (p.Gly1119Glu) c.2588G>A (p.Gly863Glu) c.3290G>A (p.Gly1097Glu) n.212G>A c.646G>A | |
X | g.53382314C>A | CA413243406 | SMC1A | c.3355G>T (p.Gly1119Trp) c.2587G>T (p.Gly863Trp) c.3289G>T (p.Gly1097Trp) n.211G>T c.645G>T | |
X | g.53382314C>G | CA413243407 | SMC1A | c.3355G>C (p.Gly1119Arg) c.2587G>C (p.Gly863Arg) c.3289G>C (p.Gly1097Arg) n.211G>C c.645G>C | |
X | g.53382314C>T | CA413243408 | SMC1A | c.3355G>A (p.Gly1119Arg) c.2587G>A (p.Gly863Arg) c.3289G>A (p.Gly1097Arg) n.211G>A c.645G>A | |
X | g.53382315A>C | CA516688025 | SMC1A | c.3354T>G (p.Pro1118=) c.2586T>G (p.Pro862=) c.3288T>G (p.Pro1096=) n.210T>G c.644T>G | |
X | g.53382315A>G | CA516688026 | SMC1A | c.3354T>C (p.Pro1118=) c.2586T>C (p.Pro862=) c.3288T>C (p.Pro1096=) n.210T>C c.644T>C | |
X | g.53382315A>T | CA516688024 | SMC1A | c.3354T>A (p.Pro1118=) c.2586T>A (p.Pro862=) c.3288T>A (p.Pro1096=) n.210T>A c.644T>A | |
X | g.53382316G>A | CA413243409 | SMC1A | c.3353C>T (p.Pro1118Leu) c.2585C>T (p.Pro862Leu) c.3287C>T (p.Pro1096Leu) n.209C>T c.643C>T | |
X | g.53382316G>C | CA413243410 | SMC1A | c.3353C>G (p.Pro1118Arg) c.2585C>G (p.Pro862Arg) c.3287C>G (p.Pro1096Arg) n.209C>G c.643C>G | |
X | g.53382316G>T | CA413243411 | SMC1A | c.3353C>A (p.Pro1118His) c.2585C>A (p.Pro862His) c.3287C>A (p.Pro1096His) n.209C>A c.643C>A | |
X | g.53382317G>A | CA413243412 | SMC1A | c.3352C>T (p.Pro1118Ser) c.2584C>T (p.Pro862Ser) c.3286C>T (p.Pro1096Ser) n.208C>T c.642C>T | |
X | g.53382317G>C | CA413243413 | SMC1A | c.3352C>G (p.Pro1118Ala) c.2584C>G (p.Pro862Ala) c.3286C>G (p.Pro1096Ala) n.208C>G c.642C>G | |
X | g.53382317G>T | CA413243414 | SMC1A | c.3352C>A (p.Pro1118Thr) c.2584C>A (p.Pro862Thr) c.3286C>A (p.Pro1096Thr) n.208C>A c.642C>A | |
X | g.53382318A>C | CA516688027 | SMC1A | c.3351T>G (p.Ala1117=) c.2583T>G (p.Ala861=) c.3285T>G (p.Ala1095=) n.207T>G c.641T>G | |
X | g.53382318A>G | CA516688028 | SMC1A | c.3351T>C (p.Ala1117=) c.2583T>C (p.Ala861=) c.3285T>C (p.Ala1095=) n.207T>C c.641T>C | |
X | g.53382318A>T | CA516688029 | SMC1A | c.3351T>A (p.Ala1117=) c.2583T>A (p.Ala861=) c.3285T>A (p.Ala1095=) n.207T>A c.641T>A | |
X | g.53382319G>A | CA413243415 | SMC1A | c.3350C>T (p.Ala1117Val) c.2582C>T (p.Ala861Val) c.3284C>T (p.Ala1095Val) n.206C>T c.640C>T | |
X | g.53382319G>C | CA413243416 | SMC1A | c.3350C>G (p.Ala1117Gly) c.2582C>G (p.Ala861Gly) c.3284C>G (p.Ala1095Gly) n.206C>G c.640C>G | |
X | g.53382319G>T | CA413243417 | SMC1A | c.3350C>A (p.Ala1117Asp) c.2582C>A (p.Ala861Asp) c.3284C>A (p.Ala1095Asp) n.206C>A c.640C>A | |
X | g.53382320C>A | CA413243420 | SMC1A | c.3349G>T (p.Ala1117Ser) c.2581G>T (p.Ala861Ser) c.3283G>T (p.Ala1095Ser) n.205G>T c.639G>T | |
X | g.53382320C>G | CA413243421 | SMC1A | c.3349G>C (p.Ala1117Pro) c.2581G>C (p.Ala861Pro) c.3283G>C (p.Ala1095Pro) n.205G>C c.639G>C | |
X | g.53382320C>T | CA413243419 | SMC1A | c.3349G>A (p.Ala1117Thr) c.2581G>A (p.Ala861Thr) c.3283G>A (p.Ala1095Thr) n.205G>A c.639G>A | |
X | g.53382321C>A | CA516688030 | SMC1A | c.3348G>T (p.Val1116=) c.2580G>T (p.Val860=) c.3282G>T (p.Val1094=) n.204G>T c.638G>T | |
X | g.53382321C>G | CA516688031 | SMC1A | c.3348G>C (p.Val1116=) c.2580G>C (p.Val860=) c.3282G>C (p.Val1094=) n.204G>C c.638G>C | |
X | g.53382321C>T | CA516688032 | SMC1A | c.3348G>A (p.Val1116=) c.2580G>A (p.Val860=) c.3282G>A (p.Val1094=) n.204G>A c.638G>A | |
X | g.53382322A>C | CA413243422 | SMC1A | c.3347T>G (p.Val1116Gly) c.2579T>G (p.Val860Gly) c.3281T>G (p.Val1094Gly) n.203T>G c.637T>G | |
X | g.53382322A>G | CA413243423 | SMC1A | c.3347T>C (p.Val1116Ala) c.2579T>C (p.Val860Ala) c.3281T>C (p.Val1094Ala) n.203T>C c.637T>C | |
X | g.53382322A>T | CA413243424 | SMC1A | c.3347T>A (p.Val1116Glu) c.2579T>A (p.Val860Glu) c.3281T>A (p.Val1094Glu) n.203T>A c.637T>A | |
X | g.53382323C>A | CA413243425 | SMC1A | c.3346G>T (p.Val1116Leu) c.2578G>T (p.Val860Leu) c.3280G>T (p.Val1094Leu) n.202G>T c.636G>T | |
X | g.53382323C>G | CA413243426 | SMC1A | c.3346G>C (p.Val1116Leu) c.2578G>C (p.Val860Leu) c.3280G>C (p.Val1094Leu) n.202G>C c.636G>C | |
X | g.53382323C>T | CA413243427 | SMC1A | c.3346G>A (p.Val1116Met) c.2578G>A (p.Val860Met) c.3280G>A (p.Val1094Met) n.202G>A c.636G>A | |
X | g.53382324A>C | CA413243428 | SMC1A | c.3345T>G (p.Cys1115Trp) c.2577T>G (p.Cys859Trp) c.3279T>G (p.Cys1093Trp) n.201T>G c.635T>G | |
X | g.53382324A>G | CA516688033 | SMC1A | c.3345T>C (p.Cys1115=) c.2577T>C (p.Cys859=) c.3279T>C (p.Cys1093=) n.201T>C c.635T>C | |
X | g.53382324A>T | CA413243429 | SMC1A | c.3345T>A (p.Cys1115Ter) c.2577T>A (p.Cys859Ter) c.3279T>A (p.Cys1093Ter) n.201T>A c.635T>A | |
X | g.53382325C>A | CA413243430 | SMC1A | c.3344G>T (p.Cys1115Phe) c.2576G>T (p.Cys859Phe) c.3278G>T (p.Cys1093Phe) n.200G>T c.634G>T | ClinVar dbSNP |
X | g.53382325C>G | CA413243431 | SMC1A | c.3344G>C (p.Cys1115Ser) c.2576G>C (p.Cys859Ser) c.3278G>C (p.Cys1093Ser) n.200G>C c.634G>C | |
X | g.53382325C>T | CA413243432 | SMC1A | c.3344G>A (p.Cys1115Tyr) c.2576G>A (p.Cys859Tyr) c.3278G>A (p.Cys1093Tyr) n.200G>A c.634G>A | ClinVar dbSNP |
X | g.53382326A>C | CA413243433 | SMC1A | c.3343T>G (p.Cys1115Gly) c.2575T>G (p.Cys859Gly) c.3277T>G (p.Cys1093Gly) n.199T>G c.633T>G | |
X | g.53382326A>G | CA413243434 | SMC1A | c.3343T>C (p.Cys1115Arg) c.2575T>C (p.Cys859Arg) c.3277T>C (p.Cys1093Arg) n.199T>C c.633T>C | |
X | g.53382326A>T | CA413243435 | SMC1A | c.3343T>A (p.Cys1115Ser) c.2575T>A (p.Cys859Ser) c.3277T>A (p.Cys1093Ser) n.199T>A c.633T>A | |
X | g.53382327G>A | CA516688034 | SMC1A | c.3342C>T (p.Asn1114=) c.2574C>T (p.Asn858=) c.3276C>T (p.Asn1092=) n.198C>T c.632C>T | dbSNP gnomAD v4 |
X | g.53382327G>C | CA413243436 | SMC1A | c.3342C>G (p.Asn1114Lys) c.2574C>G (p.Asn858Lys) c.3276C>G (p.Asn1092Lys) n.198C>G c.632C>G | |
X | g.53382327G= | CA2429817415 | SMC1A | c.3342C= (p.Asn1114=) c.2574C= (p.Asn858=) c.3276C= (p.Asn1092=) n.198C= c.632C= | |
X | g.53382327G>T | CA16043327 | SMC1A | c.3342C>A (p.Asn1114Lys) c.2574C>A (p.Asn858Lys) c.3276C>A (p.Asn1092Lys) n.198C>A c.632C>A | ClinVar dbSNP |
X | g.53382328T>A | CA413243437 | SMC1A | c.3341A>T (p.Asn1114Ile) c.2573A>T (p.Asn858Ile) c.3275A>T (p.Asn1092Ile) n.197A>T c.631A>T | |
X | g.53382328T>C | CA413243439 | SMC1A | c.3341A>G (p.Asn1114Ser) c.2573A>G (p.Asn858Ser) c.3275A>G (p.Asn1092Ser) n.197A>G c.631A>G | COSMIC |
X | g.53382328T>G | CA413243438 | SMC1A | c.3341A>C (p.Asn1114Thr) c.2573A>C (p.Asn858Thr) c.3275A>C (p.Asn1092Thr) n.197A>C c.631A>C | |
X | g.53382329T>A | CA413243440 | SMC1A | c.3340A>T (p.Asn1114Tyr) c.2572A>T (p.Asn858Tyr) c.3274A>T (p.Asn1092Tyr) n.196A>T c.630A>T | |
X | g.53382329T>C | CA413243442 | SMC1A | c.3340A>G (p.Asn1114Asp) c.2572A>G (p.Asn858Asp) c.3274A>G (p.Asn1092Asp) n.196A>G c.630A>G | |
X | g.53382329T>G | CA413243441 | SMC1A | c.3340A>C (p.Asn1114His) c.2572A>C (p.Asn858His) c.3274A>C (p.Asn1092His) n.196A>C c.630A>C | |
X | g.53382330G>A | CA516688035 | SMC1A | c.3339C>T (p.Tyr1113=) c.2571C>T (p.Tyr857=) c.3273C>T (p.Tyr1091=) n.195C>T c.629C>T | gnomAD v4 |
X | g.53382330G>C | CA413243443 | SMC1A | c.3339C>G (p.Tyr1113Ter) c.2571C>G (p.Tyr857Ter) c.3273C>G (p.Tyr1091Ter) n.195C>G c.629C>G | |
X | g.53382330G>T | CA413243444 | SMC1A | c.3339C>A (p.Tyr1113Ter) c.2571C>A (p.Tyr857Ter) c.3273C>A (p.Tyr1091Ter) n.195C>A c.629C>A | COSMIC |
X | g.53382331T>A | CA413243445 | SMC1A | c.3338A>T (p.Tyr1113Phe) c.2570A>T (p.Tyr857Phe) c.3272A>T (p.Tyr1091Phe) n.194A>T c.628A>T | |
X | g.53382331T>C | CA413243446 | SMC1A | c.3338A>G (p.Tyr1113Cys) c.2570A>G (p.Tyr857Cys) c.3272A>G (p.Tyr1091Cys) n.194A>G c.628A>G | |
X | g.53382331T>G | CA413243447 | SMC1A | c.3338A>C (p.Tyr1113Ser) c.2570A>C (p.Tyr857Ser) c.3272A>C (p.Tyr1091Ser) n.194A>C c.628A>C | |
X | g.53382332A>C | CA413243449 | SMC1A | c.3337T>G (p.Tyr1113Asp) c.2569T>G (p.Tyr857Asp) c.3271T>G (p.Tyr1091Asp) n.193T>G c.627T>G | |
X | g.53382332A>G | CA413243450 | SMC1A | c.3337T>C (p.Tyr1113His) c.2569T>C (p.Tyr857His) c.3271T>C (p.Tyr1091His) n.193T>C c.627T>C | |
X | g.53382332A>T | CA413243452 | SMC1A | c.3337T>A (p.Tyr1113Asn) c.2569T>A (p.Tyr857Asn) c.3271T>A (p.Tyr1091Asn) n.193T>A c.627T>A | |
X | g.53382333G>A | CA516688036 | SMC1A | c.3336C>T (p.Asn1112=) c.2568C>T (p.Asn856=) c.3270C>T (p.Asn1090=) n.192C>T c.626C>T | gnomAD v4 |
X | g.53382333G>C | CA413243454 | SMC1A | c.3336C>G (p.Asn1112Lys) c.2568C>G (p.Asn856Lys) c.3270C>G (p.Asn1090Lys) n.192C>G c.626C>G | |
X | g.53382333G>T | CA413243455 | SMC1A | c.3336C>A (p.Asn1112Lys) c.2568C>A (p.Asn856Lys) c.3270C>A (p.Asn1090Lys) n.192C>A c.626C>A | |
X | g.53382334T>A | CA413243458 | SMC1A | c.3335A>T (p.Asn1112Ile) c.2567A>T (p.Asn856Ile) c.3269A>T (p.Asn1090Ile) n.191A>T c.625A>T | |
X | g.53382334T>C | CA329906122 | SMC1A | c.3335A>G (p.Asn1112Ser) c.2567A>G (p.Asn856Ser) c.3269A>G (p.Asn1090Ser) n.191A>G c.625A>G | dbSNP |
X | g.53382334T>G | CA413243465 | SMC1A | c.3335A>C (p.Asn1112Thr) c.2567A>C (p.Asn856Thr) c.3269A>C (p.Asn1090Thr) n.191A>C c.625A>C | |
X | g.53382334T= | CA2429817416 | SMC1A | c.3335A= (p.Asn1112=) c.2567A= (p.Asn856=) c.3269A= (p.Asn1090=) n.191A= c.625A= | |
X | g.53382335T>A | CA413243470 | SMC1A | c.3334A>T (p.Asn1112Tyr) c.2566A>T (p.Asn856Tyr) c.3268A>T (p.Asn1090Tyr) n.190A>T c.624A>T | |
X | g.53382335T>C | CA413243466 | SMC1A | c.3334A>G (p.Asn1112Asp) c.2566A>G (p.Asn856Asp) c.3268A>G (p.Asn1090Asp) n.190A>G c.624A>G | COSMIC |
X | g.53382335T>G | CA413243468 | SMC1A | c.3334A>C (p.Asn1112His) c.2566A>C (p.Asn856His) c.3268A>C (p.Asn1090His) n.190A>C c.624A>C | |
X | g.53382336G>A | CA516688038 | SMC1A | c.3333C>T (p.Ile1111=) c.2565C>T (p.Ile855=) c.3267C>T (p.Ile1089=) n.189C>T c.623C>T | |
X | g.53382336G>C | CA413243472 | SMC1A | c.3333C>G (p.Ile1111Met) c.2565C>G (p.Ile855Met) c.3267C>G (p.Ile1089Met) n.189C>G c.623C>G | |
X | g.53382336G>T | CA516688037 | SMC1A | c.3333C>A (p.Ile1111=) c.2565C>A (p.Ile855=) c.3267C>A (p.Ile1089=) n.189C>A c.623C>A | |
X | g.53382337A>C | CA413243475 | SMC1A | c.3332T>G (p.Ile1111Ser) c.2564T>G (p.Ile855Ser) c.3266T>G (p.Ile1089Ser) n.188T>G c.622T>G | |
X | g.53382337A>G | CA413243477 | SMC1A | c.3332T>C (p.Ile1111Thr) c.2564T>C (p.Ile855Thr) c.3266T>C (p.Ile1089Thr) n.188T>C c.622T>C | |
X | g.53382337A>T | CA413243478 | SMC1A | c.3332T>A (p.Ile1111Asn) c.2564T>A (p.Ile855Asn) c.3266T>A (p.Ile1089Asn) n.188T>A c.622T>A | |
X | g.53382338T>A | CA413243481 | SMC1A | c.3331A>T (p.Ile1111Phe) c.2563A>T (p.Ile855Phe) c.3265A>T (p.Ile1089Phe) n.187A>T c.621A>T | |
X | g.53382338T>C | CA413243483 | SMC1A | c.3331A>G (p.Ile1111Val) c.2563A>G (p.Ile855Val) c.3265A>G (p.Ile1089Val) n.187A>G c.621A>G | dbSNP |
X | g.53382338T>G | CA413243484 | SMC1A | c.3331A>C (p.Ile1111Leu) c.2563A>C (p.Ile855Leu) c.3265A>C (p.Ile1089Leu) n.187A>C c.621A>C | |
X | g.53382338T= | CA2429817417 | SMC1A | c.3331A= (p.Ile1111=) c.2563A= (p.Ile855=) c.3265A= (p.Ile1089=) n.187A= c.621A= | |
X | g.53382339G>A | CA516688041 | SMC1A | c.3330C>T (p.Gly1110=) c.2562C>T (p.Gly854=) c.3264C>T (p.Gly1088=) n.186C>T c.620C>T | |
X | g.53382339G>C | CA516688039 | SMC1A | c.3330C>G (p.Gly1110=) c.2562C>G (p.Gly854=) c.3264C>G (p.Gly1088=) n.186C>G c.620C>G | |
X | g.53382339G>T | CA516688040 | SMC1A | c.3330C>A (p.Gly1110=) c.2562C>A (p.Gly854=) c.3264C>A (p.Gly1088=) n.186C>A c.620C>A | |
X | g.53382340C>A | CA413243487 | SMC1A | c.3329G>T (p.Gly1110Val) c.2561G>T (p.Gly854Val) c.3263G>T (p.Gly1088Val) n.185G>T c.619G>T | |
X | g.53382340C>G | CA413243489 | SMC1A | c.3329G>C (p.Gly1110Ala) c.2561G>C (p.Gly854Ala) c.3263G>C (p.Gly1088Ala) n.185G>C c.619G>C | |
X | g.53382340C>T | CA413243492 | SMC1A | c.3329G>A (p.Gly1110Asp) c.2561G>A (p.Gly854Asp) c.3263G>A (p.Gly1088Asp) n.185G>A c.619G>A | |
X | g.53382343_53382346del | CA658794212 | SMC1A | c.3326_3329del (p.Asp1109AlafsTer?) c.2558_2561del (p.Asp853AlafsTer?) c.3260_3263del (p.Asp1087AlafsTer?) n.182_185del c.616_619del | |
X | g.53382341C>A | CA413243497 | SMC1A | c.3328G>T (p.Gly1110Cys) c.2560G>T (p.Gly854Cys) c.3262G>T (p.Gly1088Cys) n.184G>T c.618G>T | |
X | g.53382341C>G | CA413243495 | SMC1A | c.3328G>C (p.Gly1110Arg) c.2560G>C (p.Gly854Arg) c.3262G>C (p.Gly1088Arg) n.184G>C c.618G>C | |
X | g.53382341C>T | CA413243493 | SMC1A | c.3328G>A (p.Gly1110Ser) c.2560G>A (p.Gly854Ser) c.3262G>A (p.Gly1088Ser) n.184G>A c.618G>A | |
X | g.53382342A>C | CA413243499 | SMC1A | c.3327T>G (p.Asp1109Glu) c.2559T>G (p.Asp853Glu) c.3261T>G (p.Asp1087Glu) n.183T>G c.617T>G | |
X | g.53382342A>G | CA516688042 | SMC1A | c.3327T>C (p.Asp1109=) c.2559T>C (p.Asp853=) c.3261T>C (p.Asp1087=) n.183T>C c.617T>C | |
X | g.53382342A>T | CA413243501 | SMC1A | c.3327T>A (p.Asp1109Glu) c.2559T>A (p.Asp853Glu) c.3261T>A (p.Asp1087Glu) n.183T>A c.617T>A | |
X | g.53382343T>A | CA413243503 | SMC1A | c.3326A>T (p.Asp1109Val) c.2558A>T (p.Asp853Val) c.3260A>T (p.Asp1087Val) n.182A>T c.616A>T | |
X | g.53382343T>C | CA413243505 | SMC1A | c.3326A>G (p.Asp1109Gly) c.2558A>G (p.Asp853Gly) c.3260A>G (p.Asp1087Gly) n.182A>G c.616A>G | |
X | g.53382343T>G | CA413243507 | SMC1A | c.3326A>C (p.Asp1109Ala) c.2558A>C (p.Asp853Ala) c.3260A>C (p.Asp1087Ala) n.182A>C c.616A>C | |
X | g.53382344C>A | CA413243509 | SMC1A | c.3325G>T (p.Asp1109Tyr) c.2557G>T (p.Asp853Tyr) c.3259G>T (p.Asp1087Tyr) n.181G>T c.615G>T | |
X | g.53382344C>G | CA413243511 | SMC1A | c.3325G>C (p.Asp1109His) c.2557G>C (p.Asp853His) c.3259G>C (p.Asp1087His) n.181G>C c.615G>C | |
X | g.53382344C>T | CA413243513 | SMC1A | c.3325G>A (p.Asp1109Asn) c.2557G>A (p.Asp853Asn) c.3259G>A (p.Asp1087Asn) n.181G>A c.615G>A | |
X | g.53382345C>A | CA413243515 | SMC1A | c.3324G>T (p.Leu1108Phe) c.2556G>T (p.Leu852Phe) c.3258G>T (p.Leu1086Phe) n.180G>T c.614G>T | |
X | g.53382345C>G | CA413243517 | SMC1A | c.3324G>C (p.Leu1108Phe) c.2556G>C (p.Leu852Phe) c.3258G>C (p.Leu1086Phe) n.180G>C c.614G>C | |
X | g.53382345C>T | CA516688043 | SMC1A | c.3324G>A (p.Leu1108=) c.2556G>A (p.Leu852=) c.3258G>A (p.Leu1086=) n.180G>A c.614G>A | |
X | g.53382346A>C | CA413243519 | SMC1A | c.3323T>G (p.Leu1108Trp) c.2555T>G (p.Leu852Trp) c.3257T>G (p.Leu1086Trp) n.179T>G c.613T>G | |
X | g.53382346A>G | CA413243521 | SMC1A | c.3323T>C (p.Leu1108Ser) c.2555T>C (p.Leu852Ser) c.3257T>C (p.Leu1086Ser) n.179T>C c.613T>C | |
X | g.53382346A>T | CA413243523 | SMC1A | c.3323T>A (p.Leu1108Ter) c.2555T>A (p.Leu852Ter) c.3257T>A (p.Leu1086Ter) n.179T>A c.613T>A | |
X | g.53382347A>C | CA413243525 | SMC1A | c.3322T>G (p.Leu1108Val) c.2554T>G (p.Leu852Val) c.3256T>G (p.Leu1086Val) n.178T>G c.612T>G | |
X | g.53382347A>G | CA516688044 | SMC1A | c.3322T>C (p.Leu1108=) c.2554T>C (p.Leu852=) c.3256T>C (p.Leu1086=) n.178T>C c.612T>C | gnomAD v4 |
X | g.53382347A>T | CA413243527 | SMC1A | c.3322T>A (p.Leu1108Met) c.2554T>A (p.Leu852Met) c.3256T>A (p.Leu1086Met) n.178T>A c.612T>A | |
X | g.53382348G>A | CA516688045 | SMC1A | c.3321C>T (p.Tyr1107=) c.2553C>T (p.Tyr851=) c.3255C>T (p.Tyr1085=) n.177C>T c.611C>T | |
X | g.53382348G>C | CA413243530 | SMC1A | c.3321C>G (p.Tyr1107Ter) c.2553C>G (p.Tyr851Ter) c.3255C>G (p.Tyr1085Ter) n.177C>G c.611C>G | |
X | g.53382348G>T | CA413243531 | SMC1A | c.3321C>A (p.Tyr1107Ter) c.2553C>A (p.Tyr851Ter) c.3255C>A (p.Tyr1085Ter) n.177C>A c.611C>A | |
X | g.53382349T>A | CA413243532 | SMC1A | c.3320A>T (p.Tyr1107Phe) c.2552A>T (p.Tyr851Phe) c.3254A>T (p.Tyr1085Phe) n.176A>T c.610A>T | dbSNP |
X | g.53382349T>C | CA413243533 | SMC1A | c.3320A>G (p.Tyr1107Cys) c.2552A>G (p.Tyr851Cys) c.3254A>G (p.Tyr1085Cys) n.176A>G c.610A>G | |
X | g.53382349T>G | CA413243534 | SMC1A | c.3320A>C (p.Tyr1107Ser) c.2552A>C (p.Tyr851Ser) c.3254A>C (p.Tyr1085Ser) n.176A>C c.610A>C | |
X | g.53382349T= | CA2429817418 | SMC1A | c.3320A= (p.Tyr1107=) c.2552A= (p.Tyr851=) c.3254A= (p.Tyr1085=) n.176A= c.610A= | |
X | g.53382350A>C | CA413243537 | SMC1A | c.3319T>G (p.Tyr1107Asp) c.2551T>G (p.Tyr851Asp) c.3253T>G (p.Tyr1085Asp) n.175T>G c.609T>G | |
X | g.53382350A>G | CA413243539 | SMC1A | c.3319T>C (p.Tyr1107His) c.2551T>C (p.Tyr851His) c.3253T>C (p.Tyr1085His) n.175T>C c.609T>C | |
X | g.53382350A>T | CA413243541 | SMC1A | c.3319T>A (p.Tyr1107Asn) c.2551T>A (p.Tyr851Asn) c.3253T>A (p.Tyr1085Asn) n.175T>A c.609T>A | |
X | g.53382351G>A | CA516688487 | SMC1A | c.3318C>T (p.Pro1106=) c.2550C>T (p.Pro850=) c.3252C>T (p.Pro1084=) n.174C>T c.608C>T | |
X | g.53382351G>C | CA516688488 | SMC1A | c.3318C>G (p.Pro1106=) c.2550C>G (p.Pro850=) c.3252C>G (p.Pro1084=) n.174C>G c.608C>G | |
X | g.53382351G>T | CA516688489 | SMC1A | c.3318C>A (p.Pro1106=) c.2550C>A (p.Pro850=) c.3252C>A (p.Pro1084=) n.174C>A c.608C>A | |
X | g.53382352G>A | CA413243544 | SMC1A | c.3317C>T (p.Pro1106Leu) c.2549C>T (p.Pro850Leu) c.3251C>T (p.Pro1084Leu) n.173C>T c.607C>T | |
X | g.53382352G>C | CA413243546 | SMC1A | c.3317C>G (p.Pro1106Arg) c.2549C>G (p.Pro850Arg) c.3251C>G (p.Pro1084Arg) n.173C>G c.607C>G | |
X | g.53382352G>T | CA413243548 | SMC1A | c.3317C>A (p.Pro1106His) c.2549C>A (p.Pro850His) c.3251C>A (p.Pro1084His) n.173C>A c.607C>A | |
X | g.53382353G>A | CA413243553 | SMC1A | c.3316C>T (p.Pro1106Ser) c.2548C>T (p.Pro850Ser) c.3250C>T (p.Pro1084Ser) n.172C>T c.606C>T | COSMIC |
X | g.53382353G>C | CA413243555 | SMC1A | c.3316C>G (p.Pro1106Ala) c.2548C>G (p.Pro850Ala) c.3250C>G (p.Pro1084Ala) n.172C>G c.606C>G | |
X | g.53382353G>T | CA413243551 | SMC1A | c.3316C>A (p.Pro1106Thr) c.2548C>A (p.Pro850Thr) c.3250C>A (p.Pro1084Thr) n.172C>A c.606C>A | |
X | g.53382354C>A | CA413243558 | SMC1A | c.3315G>T (p.Glu1105Asp) c.2547G>T (p.Glu849Asp) c.3249G>T (p.Glu1083Asp) n.171G>T c.605G>T | |
X | g.53382354C>G | CA413243556 | SMC1A | c.3315G>C (p.Glu1105Asp) c.2547G>C (p.Glu849Asp) c.3249G>C (p.Glu1083Asp) n.171G>C c.605G>C | |
X | g.53382354C>T | CA516688490 | SMC1A | c.3315G>A (p.Glu1105=) c.2547G>A (p.Glu849=) c.3249G>A (p.Glu1083=) n.171G>A c.605G>A | gnomAD v4 |
X | g.53382355T>A | CA413243559 | SMC1A | c.3314A>T (p.Glu1105Val) c.2546A>T (p.Glu849Val) c.3248A>T (p.Glu1083Val) n.170A>T c.604A>T | |
X | g.53382355T>C | CA413243561 | SMC1A | c.3314A>G (p.Glu1105Gly) c.2546A>G (p.Glu849Gly) c.3248A>G (p.Glu1083Gly) n.170A>G c.604A>G | |
X | g.53382355T>G | CA413243563 | SMC1A | c.3314A>C (p.Glu1105Ala) c.2546A>C (p.Glu849Ala) c.3248A>C (p.Glu1083Ala) n.170A>C c.604A>C | |
X | g.53382356C>A | CA413243565 | SMC1A | c.3313G>T (p.Glu1105Ter) c.2545G>T (p.Glu849Ter) c.3247G>T (p.Glu1083Ter) n.169G>T c.603G>T | |
X | g.53382356C>G | CA413243567 | SMC1A | c.3313G>C (p.Glu1105Gln) c.2545G>C (p.Glu849Gln) c.3247G>C (p.Glu1083Gln) n.169G>C c.603G>C | |
X | g.53382356C>T | CA413243569 | SMC1A | c.3313G>A (p.Glu1105Lys) c.2545G>A (p.Glu849Lys) c.3247G>A (p.Glu1083Lys) n.169G>A c.603G>A | |
X | g.53382357T>A | CA413243571 | SMC1A | c.3312A>T (p.Glu1104Asp) c.2544A>T (p.Glu848Asp) c.3246A>T (p.Glu1082Asp) n.168A>T c.602A>T | |
X | g.53382357T>C | CA516688491 | SMC1A | c.3312A>G (p.Glu1104=) c.2544A>G (p.Glu848=) c.3246A>G (p.Glu1082=) n.168A>G c.602A>G | |
X | g.53382357T>G | CA413243573 | SMC1A | c.3312A>C (p.Glu1104Asp) c.2544A>C (p.Glu848Asp) c.3246A>C (p.Glu1082Asp) n.168A>C c.602A>C | |
X | g.53382358_53382365del | CA2695234306 | SMC1A | c.3305_3312del (p.Asn1102ArgfsTer?) c.2537_2544del (p.Asn846ArgfsTer?) c.3239_3246del (p.Asn1080ArgfsTer?) n.161_168del c.595_602del | |
X | g.53382358T>A | CA413243575 | SMC1A | c.3311A>T (p.Glu1104Val) c.2543A>T (p.Glu848Val) c.3245A>T (p.Glu1082Val) n.167A>T c.601A>T | |
X | g.53382358T>C | CA413243576 | SMC1A | c.3311A>G (p.Glu1104Gly) c.2543A>G (p.Glu848Gly) c.3245A>G (p.Glu1082Gly) n.167A>G c.601A>G | |
X | g.53382358T>G | CA413243578 | SMC1A | c.3311A>C (p.Glu1104Ala) c.2543A>C (p.Glu848Ala) c.3245A>C (p.Glu1082Ala) n.167A>C c.601A>C | |
X | g.53382359C>A | CA413243584 | SMC1A | c.3310G>T (p.Glu1104Ter) c.2542G>T (p.Glu848Ter) c.3244G>T (p.Glu1082Ter) n.166G>T c.600G>T | |
X | g.53382359C>G | CA413243580 | SMC1A | c.3310G>C (p.Glu1104Gln) c.2542G>C (p.Glu848Gln) c.3244G>C (p.Glu1082Gln) n.166G>C c.600G>C | |
X | g.53382359C>T | CA413243582 | SMC1A | c.3310G>A (p.Glu1104Lys) c.2542G>A (p.Glu848Lys) c.3244G>A (p.Glu1082Lys) n.166G>A c.600G>A | |
X | g.53382360A>C | CA516688492 | SMC1A | c.3309T>G (p.Pro1103=) c.2541T>G (p.Pro847=) c.3243T>G (p.Pro1081=) n.165T>G c.599T>G | |
X | g.53382360A>G | CA516688493 | SMC1A | c.3309T>C (p.Pro1103=) c.2541T>C (p.Pro847=) c.3243T>C (p.Pro1081=) n.165T>C c.599T>C | gnomAD v4 |
X | g.53382360A>T | CA516688494 | SMC1A | c.3309T>A (p.Pro1103=) c.2541T>A (p.Pro847=) c.3243T>A (p.Pro1081=) n.165T>A c.599T>A | |
X | g.53382361G>A | CA413243586 | SMC1A | c.3308C>T (p.Pro1103Leu) c.2540C>T (p.Pro847Leu) c.3242C>T (p.Pro1081Leu) n.164C>T c.598C>T | |
X | g.53382361G>C | CA413243588 | SMC1A | c.3308C>G (p.Pro1103Arg) c.2540C>G (p.Pro847Arg) c.3242C>G (p.Pro1081Arg) n.164C>G c.598C>G | |
X | g.53382361G>T | CA413243590 | SMC1A | c.3308C>A (p.Pro1103His) c.2540C>A (p.Pro847His) c.3242C>A (p.Pro1081His) n.164C>A c.598C>A | |
X | g.53382362G>A | CA413243593 | SMC1A | c.3307C>T (p.Pro1103Ser) c.2539C>T (p.Pro847Ser) c.3241C>T (p.Pro1081Ser) n.163C>T c.597C>T | |
X | g.53382362G>C | CA413243595 | SMC1A | c.3307C>G (p.Pro1103Ala) c.2539C>G (p.Pro847Ala) c.3241C>G (p.Pro1081Ala) n.163C>G c.597C>G | gnomAD v4 |
X | g.53382362G>T | CA413243597 | SMC1A | c.3307C>A (p.Pro1103Thr) c.2539C>A (p.Pro847Thr) c.3241C>A (p.Pro1081Thr) n.163C>A c.597C>A | |
X | g.53382363G>A | CA516688495 | SMC1A | c.3306C>T (p.Asn1102=) c.2538C>T (p.Asn846=) c.3240C>T (p.Asn1080=) n.162C>T c.596C>T | ClinVar dbSNP gnomAD v4 |
X | g.53382363G>C | CA208176 | SMC1A | c.3306C>G (p.Asn1102Lys) c.2538C>G (p.Asn846Lys) c.3240C>G (p.Asn1080Lys) n.162C>G c.596C>G | ClinVar dbSNP |
X | g.53382363G= | CA2429817419 | SMC1A | c.3306C= (p.Asn1102=) c.2538C= (p.Asn846=) c.3240C= (p.Asn1080=) n.162C= c.596C= | |
X | g.53382363G>T | CA413243600 | SMC1A | c.3306C>A (p.Asn1102Lys) c.2538C>A (p.Asn846Lys) c.3240C>A (p.Asn1080Lys) n.162C>A c.596C>A | |
X | g.53382364T>A | CA413243602 | SMC1A | c.3305A>T (p.Asn1102Ile) c.2537A>T (p.Asn846Ile) c.3239A>T (p.Asn1080Ile) n.161A>T c.595A>T | |
X | g.53382364T>C | CA413243604 | SMC1A | c.3305A>G (p.Asn1102Ser) c.2537A>G (p.Asn846Ser) c.3239A>G (p.Asn1080Ser) n.161A>G c.595A>G | ClinVar dbSNP |
X | g.53382364T>G | CA413243606 | SMC1A | c.3305A>C (p.Asn1102Thr) c.2537A>C (p.Asn846Thr) c.3239A>C (p.Asn1080Thr) n.161A>C c.595A>C | |
X | g.53382365T>A | CA413243610 | SMC1A | c.3304A>T (p.Asn1102Tyr) c.2536A>T (p.Asn846Tyr) c.3238A>T (p.Asn1080Tyr) n.160A>T c.594A>T | |
X | g.53382365T>C | CA10420303 | SMC1A | c.3304A>G (p.Asn1102Asp) c.2536A>G (p.Asn846Asp) c.3238A>G (p.Asn1080Asp) n.160A>G c.594A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53382365T>G | CA413243608 | SMC1A | c.3304A>C (p.Asn1102His) c.2536A>C (p.Asn846His) c.3238A>C (p.Asn1080His) n.160A>C c.594A>C | |
X | g.53382365T= | CA2429817420 | SMC1A | c.3304A= (p.Asn1102=) c.2536A= (p.Asn846=) c.3238A= (p.Asn1080=) n.160A= c.594A= | |
X | g.53382366C>A | CA413243613 | SMC1A | c.3303G>T (p.Glu1101Asp) c.2535G>T (p.Glu845Asp) c.3237G>T (p.Glu1079Asp) n.159G>T c.593G>T | |
X | g.53382366C>G | CA413243614 | SMC1A | c.3303G>C (p.Glu1101Asp) c.2535G>C (p.Glu845Asp) c.3237G>C (p.Glu1079Asp) n.159G>C c.593G>C | gnomAD v4 |
X | g.53382366C>T | CA516688496 | SMC1A | c.3303G>A (p.Glu1101=) c.2535G>A (p.Glu845=) c.3237G>A (p.Glu1079=) n.159G>A c.593G>A | gnomAD v4 |
X | g.53382367T>A | CA413243616 | SMC1A | c.3302A>T (p.Glu1101Val) c.2534A>T (p.Glu845Val) c.3236A>T (p.Glu1079Val) n.158A>T c.592A>T | |
X | g.53382367T>C | CA413243618 | SMC1A | c.3302A>G (p.Glu1101Gly) c.2534A>G (p.Glu845Gly) c.3236A>G (p.Glu1079Gly) n.158A>G c.592A>G | |
X | g.53382367T>G | CA413243620 | SMC1A | c.3302A>C (p.Glu1101Ala) c.2534A>C (p.Glu845Ala) c.3236A>C (p.Glu1079Ala) n.158A>C c.592A>C | |
X | g.53382368C>A | CA413243629 | SMC1A | c.3301G>T (p.Glu1101Ter) c.2533G>T (p.Glu845Ter) c.3235G>T (p.Glu1079Ter) n.157G>T c.591G>T | |
X | g.53382368C>G | CA413243627 | SMC1A | c.3301G>C (p.Glu1101Gln) c.2533G>C (p.Glu845Gln) c.3235G>C (p.Glu1079Gln) n.157G>C c.591G>C | |
X | g.53382368C>T | CA413243622 | SMC1A | c.3301G>A (p.Glu1101Lys) c.2533G>A (p.Glu845Lys) c.3235G>A (p.Glu1079Lys) n.157G>A c.591G>A | |
X | g.53382369A>C | CA516688497 | SMC1A | c.3300T>G (p.Pro1100=) c.2532T>G (p.Pro844=) c.3234T>G (p.Pro1078=) n.156T>G c.590T>G | |
X | g.53382369A>G | CA516688498 | SMC1A | c.3300T>C (p.Pro1100=) c.2532T>C (p.Pro844=) c.3234T>C (p.Pro1078=) n.156T>C c.590T>C | gnomAD v4 |
X | g.53382369A>T | CA516688499 | SMC1A | c.3300T>A (p.Pro1100=) c.2532T>A (p.Pro844=) c.3234T>A (p.Pro1078=) n.156T>A c.590T>A | |
X | g.53382370G>A | CA413243631 | SMC1A | c.3299C>T (p.Pro1100Leu) c.2531C>T (p.Pro844Leu) c.3233C>T (p.Pro1078Leu) n.155C>T c.589C>T | |
X | g.53382370G>C | CA413243633 | SMC1A | c.3299C>G (p.Pro1100Arg) c.2531C>G (p.Pro844Arg) c.3233C>G (p.Pro1078Arg) n.155C>G c.589C>G | |
X | g.53382370G>T | CA413243634 | SMC1A | c.3299C>A (p.Pro1100His) c.2531C>A (p.Pro844His) c.3233C>A (p.Pro1078His) n.155C>A c.589C>A | COSMIC |
X | g.53382371G>A | CA413243637 | SMC1A | c.3298C>T (p.Pro1100Ser) c.2530C>T (p.Pro844Ser) c.3232C>T (p.Pro1078Ser) n.154C>T c.588C>T | |
X | g.53382371G>C | CA413243639 | SMC1A | c.3298C>G (p.Pro1100Ala) c.2530C>G (p.Pro844Ala) c.3232C>G (p.Pro1078Ala) n.154C>G c.588C>G | COSMIC |
X | g.53382371G>T | CA413243641 | SMC1A | c.3298C>A (p.Pro1100Thr) c.2530C>A (p.Pro844Thr) c.3232C>A (p.Pro1078Thr) n.154C>A c.588C>A | |
X | g.53382372G>A | CA516688500 | SMC1A | c.3297C>T (p.Gly1099=) c.2529C>T (p.Gly843=) c.3231C>T (p.Gly1077=) n.153C>T c.587C>T | gnomAD v4 |
X | g.53382372G>C | CA516688501 | SMC1A | c.3297C>G (p.Gly1099=) c.2529C>G (p.Gly843=) c.3231C>G (p.Gly1077=) n.153C>G c.587C>G | |
X | g.53382372G>T | CA516688502 | SMC1A | c.3297C>A (p.Gly1099=) c.2529C>A (p.Gly843=) c.3231C>A (p.Gly1077=) n.153C>A c.587C>A | |
X | g.53382373C>A | CA413243644 | SMC1A | c.3296G>T (p.Gly1099Val) c.2528G>T (p.Gly843Val) c.3230G>T (p.Gly1077Val) n.152G>T c.586G>T | |
X | g.53382373C>G | CA413243648 | SMC1A | c.3296G>C (p.Gly1099Ala) c.2528G>C (p.Gly843Ala) c.3230G>C (p.Gly1077Ala) n.152G>C c.586G>C | |
X | g.53382373C>T | CA413243645 | SMC1A | c.3296G>A (p.Gly1099Asp) c.2528G>A (p.Gly843Asp) c.3230G>A (p.Gly1077Asp) n.152G>A c.586G>A | |
X | g.53382374C>A | CA413243649 | SMC1A | c.3295G>T (p.Gly1099Cys) c.2527G>T (p.Gly843Cys) c.3229G>T (p.Gly1077Cys) n.151G>T c.585G>T | |
X | g.53382374C>G | CA413243651 | SMC1A | c.3295G>C (p.Gly1099Arg) c.2527G>C (p.Gly843Arg) c.3229G>C (p.Gly1077Arg) n.151G>C c.585G>C | |
X | g.53382374C>T | CA413243653 | SMC1A | c.3295G>A (p.Gly1099Ser) c.2527G>A (p.Gly843Ser) c.3229G>A (p.Gly1077Ser) n.151G>A c.585G>A | |
X | g.53382375C>A | CA516688503 | SMC1A | c.3294G>T (p.Leu1098=) c.2526G>T (p.Leu842=) c.3228G>T (p.Leu1076=) n.150G>T c.584G>T | |
X | g.53382375C>G | CA516688504 | SMC1A | c.3294G>C (p.Leu1098=) c.2526G>C (p.Leu842=) c.3228G>C (p.Leu1076=) n.150G>C c.584G>C | |
X | g.53382375C>T | CA516688505 | SMC1A | c.3294G>A (p.Leu1098=) c.2526G>A (p.Leu842=) c.3228G>A (p.Leu1076=) n.150G>A c.584G>A | |
X | g.53382376A>C | CA413243655 | SMC1A | c.3293T>G (p.Leu1098Arg) c.2525T>G (p.Leu842Arg) c.3227T>G (p.Leu1076Arg) n.149T>G c.583T>G | |
X | g.53382376A>G | CA413243657 | SMC1A | c.3293T>C (p.Leu1098Pro) c.2525T>C (p.Leu842Pro) c.3227T>C (p.Leu1076Pro) n.149T>C c.583T>C | |
X | g.53382376A>T | CA413243659 | SMC1A | c.3293T>A (p.Leu1098Gln) c.2525T>A (p.Leu842Gln) c.3227T>A (p.Leu1076Gln) n.149T>A c.583T>A | |
X | g.53382377G>A | CA516688506 | SMC1A | c.3292C>T (p.Leu1098=) c.2524C>T (p.Leu842=) c.3226C>T (p.Leu1076=) n.148C>T c.582C>T | gnomAD v4 |
X | g.53382377G>C | CA413243660 | SMC1A | c.3292C>G (p.Leu1098Val) c.2524C>G (p.Leu842Val) c.3226C>G (p.Leu1076Val) n.148C>G c.582C>G | |
X | g.53382377G>T | CA413243661 | SMC1A | c.3292C>A (p.Leu1098Met) c.2524C>A (p.Leu842Met) c.3226C>A (p.Leu1076Met) n.148C>A c.582C>A | |
X | g.53382378G>A | CA516688507 | SMC1A | c.3291C>T (p.Phe1097=) c.2523C>T (p.Phe841=) c.3225C>T (p.Phe1075=) n.147C>T c.581C>T | gnomAD v4 |
X | g.53382378G>C | CA413243663 | SMC1A | c.3291C>G (p.Phe1097Leu) c.2523C>G (p.Phe841Leu) c.3225C>G (p.Phe1075Leu) n.147C>G c.581C>G | |
X | g.53382378G>T | CA413243665 | SMC1A | c.3291C>A (p.Phe1097Leu) c.2523C>A (p.Phe841Leu) c.3225C>A (p.Phe1075Leu) n.147C>A c.581C>A | |
X | g.53382379A= | CA2429817421 | SMC1A | c.3290T= (p.Phe1097=) c.2522T= (p.Phe841=) c.3224T= (p.Phe1075=) n.146T= c.580T= | |
X | g.53382379A>C | CA413243667 | SMC1A | c.3290T>G (p.Phe1097Cys) c.2522T>G (p.Phe841Cys) c.3224T>G (p.Phe1075Cys) n.146T>G c.580T>G | |
X | g.53382379A>G | CA413243669 | SMC1A | c.3290T>C (p.Phe1097Ser) c.2522T>C (p.Phe841Ser) c.3224T>C (p.Phe1075Ser) n.146T>C c.580T>C | |
X | g.53382379A>T | CA413243671 | SMC1A | c.3290T>A (p.Phe1097Tyr) c.2522T>A (p.Phe841Tyr) c.3224T>A (p.Phe1075Tyr) n.146T>A c.580T>A | ClinVar dbSNP |
X | g.53382380del | CA2579615578 | SMC1A | c.3290del (p.Phe1097SerfsTer?) c.2522del (p.Phe841SerfsTer?) c.3224del (p.Phe1075SerfsTer?) n.146del c.580del |