| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |