| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23333955C>A | CA387513367 | SACS | c.9921G>T (p.Met3307Ile) c.7671G>T (p.Met2557Ile) n.1058-4471G>T (p.=) c.9480G>T (p.Met3160Ile) c.9948G>T (p.Met3316Ile) c.9972G>T (p.Met3324Ile) c.9939G>T (p.Met3313Ile) c.9912G>T (p.Met3304Ile) | |
| 13 | g.23333955C>G | CA387513368 | SACS | c.9921G>C (p.Met3307Ile) c.7671G>C (p.Met2557Ile) n.1058-4471G>C (p.=) c.9480G>C (p.Met3160Ile) c.9948G>C (p.Met3316Ile) c.9972G>C (p.Met3324Ile) c.9939G>C (p.Met3313Ile) c.9912G>C (p.Met3304Ile) | |
| 13 | g.23333955C>T | CA387513369 | SACS | c.9921G>A (p.Met3307Ile) c.7671G>A (p.Met2557Ile) n.1058-4471G>A (p.=) c.9480G>A (p.Met3160Ile) c.9948G>A (p.Met3316Ile) c.9972G>A (p.Met3324Ile) c.9939G>A (p.Met3313Ile) c.9912G>A (p.Met3304Ile) | gnomAD |
| 13 | g.23333956A>C | CA387513371 | SACS | c.9920T>G (p.Met3307Arg) c.7670T>G (p.Met2557Arg) n.1058-4472T>G (p.=) c.9479T>G (p.Met3160Arg) c.9947T>G (p.Met3316Arg) c.9971T>G (p.Met3324Arg) c.9938T>G (p.Met3313Arg) c.9911T>G (p.Met3304Arg) | |
| 13 | g.23333956A>G | CA387513372 | SACS | c.9920T>C (p.Met3307Thr) c.7670T>C (p.Met2557Thr) n.1058-4472T>C (p.=) c.9479T>C (p.Met3160Thr) c.9947T>C (p.Met3316Thr) c.9971T>C (p.Met3324Thr) c.9938T>C (p.Met3313Thr) c.9911T>C (p.Met3304Thr) | |
| 13 | g.23333956A>T | CA387513370 | SACS | c.9920T>A (p.Met3307Lys) c.7670T>A (p.Met2557Lys) n.1058-4472T>A (p.=) c.9479T>A (p.Met3160Lys) c.9947T>A (p.Met3316Lys) c.9971T>A (p.Met3324Lys) c.9938T>A (p.Met3313Lys) c.9911T>A (p.Met3304Lys) | |
| 13 | g.23333957T>A | CA387513373 | SACS | c.9919A>T (p.Met3307Leu) c.7669A>T (p.Met2557Leu) n.1058-4473A>T (p.=) c.9478A>T (p.Met3160Leu) c.9946A>T (p.Met3316Leu) c.9970A>T (p.Met3324Leu) c.9937A>T (p.Met3313Leu) c.9910A>T (p.Met3304Leu) | |
| 13 | g.23333957T>C | CA6910539 | SACS | c.9919A>G (p.Met3307Val) c.7669A>G (p.Met2557Val) n.1058-4473A>G (p.=) c.9478A>G (p.Met3160Val) c.9946A>G (p.Met3316Val) c.9970A>G (p.Met3324Val) c.9937A>G (p.Met3313Val) c.9910A>G (p.Met3304Val) | dbSNP ExAC gnomAD |
| 13 | g.23333957T>G | CA6910540 | SACS | c.9919A>C (p.Met3307Leu) c.7669A>C (p.Met2557Leu) n.1058-4473A>C (p.=) c.9478A>C (p.Met3160Leu) c.9946A>C (p.Met3316Leu) c.9970A>C (p.Met3324Leu) c.9937A>C (p.Met3313Leu) c.9910A>C (p.Met3304Leu) | dbSNP ExAC gnomAD |
| 13 | g.23333958A>C | CA483159236 | SACS | c.9918T>G (p.Leu3306=) c.7668T>G (p.Leu2556=) n.1058-4474T>G (p.=) c.9477T>G (p.Leu3159=) c.9945T>G (p.Leu3315=) c.9969T>G (p.Leu3323=) c.9936T>G (p.Leu3312=) c.9909T>G (p.Leu3303=) | |
| 13 | g.23333958A>G | CA483159237 | SACS | c.9918T>C (p.Leu3306=) c.7668T>C (p.Leu2556=) n.1058-4474T>C (p.=) c.9477T>C (p.Leu3159=) c.9945T>C (p.Leu3315=) c.9969T>C (p.Leu3323=) c.9936T>C (p.Leu3312=) c.9909T>C (p.Leu3303=) | |
| 13 | g.23333958A>T | CA483159238 | SACS | c.9918T>A (p.Leu3306=) c.7668T>A (p.Leu2556=) n.1058-4474T>A (p.=) c.9477T>A (p.Leu3159=) c.9945T>A (p.Leu3315=) c.9969T>A (p.Leu3323=) c.9936T>A (p.Leu3312=) c.9909T>A (p.Leu3303=) | |
| 13 | g.23333959A>C | CA387513374 | SACS | c.9917T>G (p.Leu3306Arg) c.7667T>G (p.Leu2556Arg) n.1058-4475T>G (p.=) c.9476T>G (p.Leu3159Arg) c.9944T>G (p.Leu3315Arg) c.9968T>G (p.Leu3323Arg) c.9935T>G (p.Leu3312Arg) c.9908T>G (p.Leu3303Arg) | |
| 13 | g.23333959A>G | CA387513375 | SACS | c.9917T>C (p.Leu3306Pro) c.7667T>C (p.Leu2556Pro) n.1058-4475T>C (p.=) c.9476T>C (p.Leu3159Pro) c.9944T>C (p.Leu3315Pro) c.9968T>C (p.Leu3323Pro) c.9935T>C (p.Leu3312Pro) c.9908T>C (p.Leu3303Pro) | |
| 13 | g.23333959A>T | CA387513376 | SACS | c.9917T>A (p.Leu3306His) c.7667T>A (p.Leu2556His) n.1058-4475T>A (p.=) c.9476T>A (p.Leu3159His) c.9944T>A (p.Leu3315His) c.9968T>A (p.Leu3323His) c.9935T>A (p.Leu3312His) c.9908T>A (p.Leu3303His) | |
| 13 | g.23333960G>A | CA387513379 | SACS | c.9916C>T (p.Leu3306Phe) c.7666C>T (p.Leu2556Phe) n.1058-4476C>T (p.=) c.9475C>T (p.Leu3159Phe) c.9943C>T (p.Leu3315Phe) c.9967C>T (p.Leu3323Phe) c.9934C>T (p.Leu3312Phe) c.9907C>T (p.Leu3303Phe) | |
| 13 | g.23333960G>C | CA387513377 | SACS | c.9916C>G (p.Leu3306Val) c.7666C>G (p.Leu2556Val) n.1058-4476C>G (p.=) c.9475C>G (p.Leu3159Val) c.9943C>G (p.Leu3315Val) c.9967C>G (p.Leu3323Val) c.9934C>G (p.Leu3312Val) c.9907C>G (p.Leu3303Val) | |
| 13 | g.23333960G>T | CA387513378 | SACS | c.9916C>A (p.Leu3306Ile) c.7666C>A (p.Leu2556Ile) n.1058-4476C>A (p.=) c.9475C>A (p.Leu3159Ile) c.9943C>A (p.Leu3315Ile) c.9967C>A (p.Leu3323Ile) c.9934C>A (p.Leu3312Ile) c.9907C>A (p.Leu3303Ile) | |
| 13 | g.23333961G>A | CA6910541 | SACS | c.9915C>T (p.Ser3305=) c.7665C>T (p.Ser2555=) n.1058-4477C>T (p.=) c.9474C>T (p.Ser3158=) c.9942C>T (p.Ser3314=) c.9966C>T (p.Ser3322=) c.9933C>T (p.Ser3311=) c.9906C>T (p.Ser3302=) | dbSNP ExAC gnomAD |
| 13 | g.23333961G>C | CA387513380 | SACS | c.9915C>G (p.Ser3305Arg) c.7665C>G (p.Ser2555Arg) n.1058-4477C>G (p.=) c.9474C>G (p.Ser3158Arg) c.9942C>G (p.Ser3314Arg) c.9966C>G (p.Ser3322Arg) c.9933C>G (p.Ser3311Arg) c.9906C>G (p.Ser3302Arg) | |
| 13 | g.23333961G>T | CA387513381 | SACS | c.9915C>A (p.Ser3305Arg) c.7665C>A (p.Ser2555Arg) n.1058-4477C>A (p.=) c.9474C>A (p.Ser3158Arg) c.9942C>A (p.Ser3314Arg) c.9966C>A (p.Ser3322Arg) c.9933C>A (p.Ser3311Arg) c.9906C>A (p.Ser3302Arg) | |
| 13 | g.23333962C>A | CA387513382 | SACS | c.9914G>T (p.Ser3305Ile) c.7664G>T (p.Ser2555Ile) n.1058-4478G>T (p.=) c.9473G>T (p.Ser3158Ile) c.9941G>T (p.Ser3314Ile) c.9965G>T (p.Ser3322Ile) c.9932G>T (p.Ser3311Ile) c.9905G>T (p.Ser3302Ile) | |
| 13 | g.23333962C>G | CA387513383 | SACS | c.9914G>C (p.Ser3305Thr) c.7664G>C (p.Ser2555Thr) n.1058-4478G>C (p.=) c.9473G>C (p.Ser3158Thr) c.9941G>C (p.Ser3314Thr) c.9965G>C (p.Ser3322Thr) c.9932G>C (p.Ser3311Thr) c.9905G>C (p.Ser3302Thr) | |
| 13 | g.23333962C>T | CA387513384 | SACS | c.9914G>A (p.Ser3305Asn) c.7664G>A (p.Ser2555Asn) n.1058-4478G>A (p.=) c.9473G>A (p.Ser3158Asn) c.9941G>A (p.Ser3314Asn) c.9965G>A (p.Ser3322Asn) c.9932G>A (p.Ser3311Asn) c.9905G>A (p.Ser3302Asn) | |
| 13 | g.23333963T>A | CA387513385 | SACS | c.9913A>T (p.Ser3305Cys) c.7663A>T (p.Ser2555Cys) n.1058-4479A>T (p.=) c.9472A>T (p.Ser3158Cys) c.9940A>T (p.Ser3314Cys) c.9964A>T (p.Ser3322Cys) c.9931A>T (p.Ser3311Cys) c.9904A>T (p.Ser3302Cys) | |
| 13 | g.23333963T>C | CA387513387 | SACS | c.9913A>G (p.Ser3305Gly) c.7663A>G (p.Ser2555Gly) n.1058-4479A>G (p.=) c.9472A>G (p.Ser3158Gly) c.9940A>G (p.Ser3314Gly) c.9964A>G (p.Ser3322Gly) c.9931A>G (p.Ser3311Gly) c.9904A>G (p.Ser3302Gly) | gnomAD |
| 13 | g.23333963T>G | CA387513386 | SACS | c.9913A>C (p.Ser3305Arg) c.7663A>C (p.Ser2555Arg) n.1058-4479A>C (p.=) c.9472A>C (p.Ser3158Arg) c.9940A>C (p.Ser3314Arg) c.9964A>C (p.Ser3322Arg) c.9931A>C (p.Ser3311Arg) c.9904A>C (p.Ser3302Arg) | |
| 13 | g.23333964G>A | CA483159247 | SACS | c.9912C>T (p.Leu3304=) c.7662C>T (p.Leu2554=) n.1058-4480C>T (p.=) c.9471C>T (p.Leu3157=) c.9939C>T (p.Leu3313=) c.9963C>T (p.Leu3321=) c.9930C>T (p.Leu3310=) c.9903C>T (p.Leu3301=) | ClinVar |
| 13 | g.23333964G>C | CA483159248 | SACS | c.9912C>G (p.Leu3304=) c.7662C>G (p.Leu2554=) n.1058-4480C>G (p.=) c.9471C>G (p.Leu3157=) c.9939C>G (p.Leu3313=) c.9963C>G (p.Leu3321=) c.9930C>G (p.Leu3310=) c.9903C>G (p.Leu3301=) | COSMIC COSMIC |
| 13 | g.23333964G>T | CA483159249 | SACS | c.9912C>A (p.Leu3304=) c.7662C>A (p.Leu2554=) n.1058-4480C>A (p.=) c.9471C>A (p.Leu3157=) c.9939C>A (p.Leu3313=) c.9963C>A (p.Leu3321=) c.9930C>A (p.Leu3310=) c.9903C>A (p.Leu3301=) | |
| 13 | g.23333965A>C | CA387513388 | SACS | c.9911T>G (p.Leu3304Arg) c.7661T>G (p.Leu2554Arg) n.1058-4481T>G (p.=) c.9470T>G (p.Leu3157Arg) c.9938T>G (p.Leu3313Arg) c.9962T>G (p.Leu3321Arg) c.9929T>G (p.Leu3310Arg) c.9902T>G (p.Leu3301Arg) | |
| 13 | g.23333965A>G | CA387513389 | SACS | c.9911T>C (p.Leu3304Pro) c.7661T>C (p.Leu2554Pro) n.1058-4481T>C (p.=) c.9470T>C (p.Leu3157Pro) c.9938T>C (p.Leu3313Pro) c.9962T>C (p.Leu3321Pro) c.9929T>C (p.Leu3310Pro) c.9902T>C (p.Leu3301Pro) | |
| 13 | g.23333965A>T | CA387513390 | SACS | c.9911T>A (p.Leu3304His) c.7661T>A (p.Leu2554His) n.1058-4481T>A (p.=) c.9470T>A (p.Leu3157His) c.9938T>A (p.Leu3313His) c.9962T>A (p.Leu3321His) c.9929T>A (p.Leu3310His) c.9902T>A (p.Leu3301His) | |
| 13 | g.23333966G>A | CA387513391 | SACS | c.9910C>T (p.Leu3304Phe) c.7660C>T (p.Leu2554Phe) n.1058-4482C>T (p.=) c.9469C>T (p.Leu3157Phe) c.9937C>T (p.Leu3313Phe) c.9961C>T (p.Leu3321Phe) c.9928C>T (p.Leu3310Phe) c.9901C>T (p.Leu3301Phe) | gnomAD |
| 13 | g.23333966G>C | CA387513392 | SACS | c.9910C>G (p.Leu3304Val) c.7660C>G (p.Leu2554Val) n.1058-4482C>G (p.=) c.9469C>G (p.Leu3157Val) c.9937C>G (p.Leu3313Val) c.9961C>G (p.Leu3321Val) c.9928C>G (p.Leu3310Val) c.9901C>G (p.Leu3301Val) | |
| 13 | g.23333966G>T | CA387513393 | SACS | c.9910C>A (p.Leu3304Ile) c.7660C>A (p.Leu2554Ile) n.1058-4482C>A (p.=) c.9469C>A (p.Leu3157Ile) c.9937C>A (p.Leu3313Ile) c.9961C>A (p.Leu3321Ile) c.9928C>A (p.Leu3310Ile) c.9901C>A (p.Leu3301Ile) | |
| 13 | g.23333967A>C | CA483159257 | SACS | c.9909T>G (p.Pro3303=) c.7659T>G (p.Pro2553=) n.1058-4483T>G (p.=) c.9468T>G (p.Pro3156=) c.9936T>G (p.Pro3312=) c.9960T>G (p.Pro3320=) c.9927T>G (p.Pro3309=) c.9900T>G (p.Pro3300=) | |
| 13 | g.23333967A>G | CA246652926 | SACS | c.9909T>C (p.Pro3303=) c.7659T>C (p.Pro2553=) n.1058-4483T>C (p.=) c.9468T>C (p.Pro3156=) c.9936T>C (p.Pro3312=) c.9960T>C (p.Pro3320=) c.9927T>C (p.Pro3309=) c.9900T>C (p.Pro3300=) | dbSNP |
| 13 | g.23333967A>T | CA483159258 | SACS | c.9909T>A (p.Pro3303=) c.7659T>A (p.Pro2553=) n.1058-4483T>A (p.=) c.9468T>A (p.Pro3156=) c.9936T>A (p.Pro3312=) c.9960T>A (p.Pro3320=) c.9927T>A (p.Pro3309=) c.9900T>A (p.Pro3300=) | |
| 13 | g.23333968G>A | CA387513394 | SACS | c.9908C>T (p.Pro3303Leu) c.7658C>T (p.Pro2553Leu) n.1058-4484C>T (p.=) c.9467C>T (p.Pro3156Leu) c.9935C>T (p.Pro3312Leu) c.9959C>T (p.Pro3320Leu) c.9926C>T (p.Pro3309Leu) c.9899C>T (p.Pro3300Leu) | |
| 13 | g.23333968G>C | CA387513395 | SACS | c.9908C>G (p.Pro3303Arg) c.7658C>G (p.Pro2553Arg) n.1058-4484C>G (p.=) c.9467C>G (p.Pro3156Arg) c.9935C>G (p.Pro3312Arg) c.9959C>G (p.Pro3320Arg) c.9926C>G (p.Pro3309Arg) c.9899C>G (p.Pro3300Arg) | |
| 13 | g.23333968G>T | CA387513396 | SACS | c.9908C>A (p.Pro3303His) c.7658C>A (p.Pro2553His) n.1058-4484C>A (p.=) c.9467C>A (p.Pro3156His) c.9935C>A (p.Pro3312His) c.9959C>A (p.Pro3320His) c.9926C>A (p.Pro3309His) c.9899C>A (p.Pro3300His) | |
| 13 | g.23333969G>A | CA387513397 | SACS | c.9907C>T (p.Pro3303Ser) c.7657C>T (p.Pro2553Ser) n.1058-4485C>T (p.=) c.9466C>T (p.Pro3156Ser) c.9934C>T (p.Pro3312Ser) c.9958C>T (p.Pro3320Ser) c.9925C>T (p.Pro3309Ser) c.9898C>T (p.Pro3300Ser) | COSMIC COSMIC |
| 13 | g.23333969G>C | CA6910542 | SACS | c.9907C>G (p.Pro3303Ala) c.7657C>G (p.Pro2553Ala) n.1058-4485C>G (p.=) c.9466C>G (p.Pro3156Ala) c.9934C>G (p.Pro3312Ala) c.9958C>G (p.Pro3320Ala) c.9925C>G (p.Pro3309Ala) c.9898C>G (p.Pro3300Ala) | dbSNP ExAC gnomAD |
| 13 | g.23333969G>T | CA387513398 | SACS | c.9907C>A (p.Pro3303Thr) c.7657C>A (p.Pro2553Thr) n.1058-4485C>A (p.=) c.9466C>A (p.Pro3156Thr) c.9934C>A (p.Pro3312Thr) c.9958C>A (p.Pro3320Thr) c.9925C>A (p.Pro3309Thr) c.9898C>A (p.Pro3300Thr) | |
| 13 | g.23333970A>C | CA483159268 | SACS | c.9906T>G (p.Leu3302=) c.7656T>G (p.Leu2552=) n.1058-4486T>G (p.=) c.9465T>G (p.Leu3155=) c.9933T>G (p.Leu3311=) c.9957T>G (p.Leu3319=) c.9924T>G (p.Leu3308=) c.9897T>G (p.Leu3299=) | |
| 13 | g.23333970A>G | CA483159269 | SACS | c.9906T>C (p.Leu3302=) c.7656T>C (p.Leu2552=) n.1058-4486T>C (p.=) c.9465T>C (p.Leu3155=) c.9933T>C (p.Leu3311=) c.9957T>C (p.Leu3319=) c.9924T>C (p.Leu3308=) c.9897T>C (p.Leu3299=) | |
| 13 | g.23333970A>T | CA483159271 | SACS | c.9906T>A (p.Leu3302=) c.7656T>A (p.Leu2552=) n.1058-4486T>A (p.=) c.9465T>A (p.Leu3155=) c.9933T>A (p.Leu3311=) c.9957T>A (p.Leu3319=) c.9924T>A (p.Leu3308=) c.9897T>A (p.Leu3299=) | |
| 13 | g.23333971A>C | CA387513399 | SACS | c.9905T>G (p.Leu3302Arg) c.7655T>G (p.Leu2552Arg) n.1058-4487T>G (p.=) c.9464T>G (p.Leu3155Arg) c.9932T>G (p.Leu3311Arg) c.9956T>G (p.Leu3319Arg) c.9923T>G (p.Leu3308Arg) c.9896T>G (p.Leu3299Arg) | |
| 13 | g.23333971A>G | CA387513401 | SACS | c.9905T>C (p.Leu3302Pro) c.7655T>C (p.Leu2552Pro) n.1058-4487T>C (p.=) c.9464T>C (p.Leu3155Pro) c.9932T>C (p.Leu3311Pro) c.9956T>C (p.Leu3319Pro) c.9923T>C (p.Leu3308Pro) c.9896T>C (p.Leu3299Pro) |