| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23333966G>A | CA387513391 | SACS | c.9469C>T (p.Leu3157Phe) c.9910C>T (p.Leu3304Phe) c.9937C>T (p.Leu3313Phe) c.9961C>T (p.Leu3321Phe) c.9928C>T (p.Leu3310Phe) c.9901C>T (p.Leu3301Phe) c.7660C>T (p.Leu2554Phe) n.1058-4482C>T (p.=) n.2130-4482C>T | gnomAD |
| 13 | g.23333966G>C | CA387513392 | SACS | c.9469C>G (p.Leu3157Val) c.9910C>G (p.Leu3304Val) c.9937C>G (p.Leu3313Val) c.9961C>G (p.Leu3321Val) c.9928C>G (p.Leu3310Val) c.9901C>G (p.Leu3301Val) c.7660C>G (p.Leu2554Val) n.1058-4482C>G (p.=) n.2130-4482C>G | |
| 13 | g.23333966G>T | CA387513393 | SACS | c.9469C>A (p.Leu3157Ile) c.9910C>A (p.Leu3304Ile) c.9937C>A (p.Leu3313Ile) c.9961C>A (p.Leu3321Ile) c.9928C>A (p.Leu3310Ile) c.9901C>A (p.Leu3301Ile) c.7660C>A (p.Leu2554Ile) n.1058-4482C>A (p.=) n.2130-4482C>A | |
| 13 | g.23333967A>C | CA483159257 | SACS | c.9468T>G (p.Pro3156=) c.9909T>G (p.Pro3303=) c.9936T>G (p.Pro3312=) c.9960T>G (p.Pro3320=) c.9927T>G (p.Pro3309=) c.9900T>G (p.Pro3300=) c.7659T>G (p.Pro2553=) n.1058-4483T>G (p.=) n.2130-4483T>G | |
| 13 | g.23333967A>G | CA246652926 | SACS | c.9468T>C (p.Pro3156=) c.9909T>C (p.Pro3303=) c.9936T>C (p.Pro3312=) c.9960T>C (p.Pro3320=) c.9927T>C (p.Pro3309=) c.9900T>C (p.Pro3300=) c.7659T>C (p.Pro2553=) n.1058-4483T>C (p.=) n.2130-4483T>C | dbSNP |
| 13 | g.23333967A>T | CA483159258 | SACS | c.9468T>A (p.Pro3156=) c.9909T>A (p.Pro3303=) c.9936T>A (p.Pro3312=) c.9960T>A (p.Pro3320=) c.9927T>A (p.Pro3309=) c.9900T>A (p.Pro3300=) c.7659T>A (p.Pro2553=) n.1058-4483T>A (p.=) n.2130-4483T>A | |
| 13 | g.23333968G>A | CA387513394 | SACS | c.9467C>T (p.Pro3156Leu) c.9908C>T (p.Pro3303Leu) c.9935C>T (p.Pro3312Leu) c.9959C>T (p.Pro3320Leu) c.9926C>T (p.Pro3309Leu) c.9899C>T (p.Pro3300Leu) c.7658C>T (p.Pro2553Leu) n.1058-4484C>T (p.=) n.2130-4484C>T | |
| 13 | g.23333968G>C | CA387513395 | SACS | c.9467C>G (p.Pro3156Arg) c.9908C>G (p.Pro3303Arg) c.9935C>G (p.Pro3312Arg) c.9959C>G (p.Pro3320Arg) c.9926C>G (p.Pro3309Arg) c.9899C>G (p.Pro3300Arg) c.7658C>G (p.Pro2553Arg) n.1058-4484C>G (p.=) n.2130-4484C>G | |
| 13 | g.23333968G>T | CA387513396 | SACS | c.9467C>A (p.Pro3156His) c.9908C>A (p.Pro3303His) c.9935C>A (p.Pro3312His) c.9959C>A (p.Pro3320His) c.9926C>A (p.Pro3309His) c.9899C>A (p.Pro3300His) c.7658C>A (p.Pro2553His) n.1058-4484C>A (p.=) n.2130-4484C>A | |
| 13 | g.23333969G>A | CA387513397 | SACS | c.9466C>T (p.Pro3156Ser) c.9907C>T (p.Pro3303Ser) c.9934C>T (p.Pro3312Ser) c.9958C>T (p.Pro3320Ser) c.9925C>T (p.Pro3309Ser) c.9898C>T (p.Pro3300Ser) c.7657C>T (p.Pro2553Ser) n.1058-4485C>T (p.=) n.2130-4485C>T | COSMIC COSMIC |
| 13 | g.23333969G>C | CA6910542 | SACS | c.9466C>G (p.Pro3156Ala) c.9907C>G (p.Pro3303Ala) c.9934C>G (p.Pro3312Ala) c.9958C>G (p.Pro3320Ala) c.9925C>G (p.Pro3309Ala) c.9898C>G (p.Pro3300Ala) c.7657C>G (p.Pro2553Ala) n.1058-4485C>G (p.=) n.2130-4485C>G | dbSNP ExAC gnomAD |
| 13 | g.23333969G>T | CA387513398 | SACS | c.9466C>A (p.Pro3156Thr) c.9907C>A (p.Pro3303Thr) c.9934C>A (p.Pro3312Thr) c.9958C>A (p.Pro3320Thr) c.9925C>A (p.Pro3309Thr) c.9898C>A (p.Pro3300Thr) c.7657C>A (p.Pro2553Thr) n.1058-4485C>A (p.=) n.2130-4485C>A | |
| 13 | g.23333970A>C | CA483159268 | SACS | c.9465T>G (p.Leu3155=) c.9906T>G (p.Leu3302=) c.9933T>G (p.Leu3311=) c.9957T>G (p.Leu3319=) c.9924T>G (p.Leu3308=) c.9897T>G (p.Leu3299=) c.7656T>G (p.Leu2552=) n.1058-4486T>G (p.=) n.2130-4486T>G | |
| 13 | g.23333970A>G | CA483159269 | SACS | c.9465T>C (p.Leu3155=) c.9906T>C (p.Leu3302=) c.9933T>C (p.Leu3311=) c.9957T>C (p.Leu3319=) c.9924T>C (p.Leu3308=) c.9897T>C (p.Leu3299=) c.7656T>C (p.Leu2552=) n.1058-4486T>C (p.=) n.2130-4486T>C | |
| 13 | g.23333970A>T | CA483159271 | SACS | c.9465T>A (p.Leu3155=) c.9906T>A (p.Leu3302=) c.9933T>A (p.Leu3311=) c.9957T>A (p.Leu3319=) c.9924T>A (p.Leu3308=) c.9897T>A (p.Leu3299=) c.7656T>A (p.Leu2552=) n.1058-4486T>A (p.=) n.2130-4486T>A | |
| 13 | g.23333971A>C | CA387513399 | SACS | c.9464T>G (p.Leu3155Arg) c.9905T>G (p.Leu3302Arg) c.9932T>G (p.Leu3311Arg) c.9956T>G (p.Leu3319Arg) c.9923T>G (p.Leu3308Arg) c.9896T>G (p.Leu3299Arg) c.7655T>G (p.Leu2552Arg) n.1058-4487T>G (p.=) n.2130-4487T>G | |
| 13 | g.23333971A>G | CA387513401 | SACS | c.9464T>C (p.Leu3155Pro) c.9905T>C (p.Leu3302Pro) c.9932T>C (p.Leu3311Pro) c.9956T>C (p.Leu3319Pro) c.9923T>C (p.Leu3308Pro) c.9896T>C (p.Leu3299Pro) c.7655T>C (p.Leu2552Pro) n.1058-4487T>C (p.=) n.2130-4487T>C | |
| 13 | g.23333971A>T | CA387513400 | SACS | c.9464T>A (p.Leu3155His) c.9905T>A (p.Leu3302His) c.9932T>A (p.Leu3311His) c.9956T>A (p.Leu3319His) c.9923T>A (p.Leu3308His) c.9896T>A (p.Leu3299His) c.7655T>A (p.Leu2552His) n.1058-4487T>A (p.=) n.2130-4487T>A | |
| 13 | g.23333972G>A | CA387513402 | SACS | c.9463C>T (p.Leu3155Phe) c.9904C>T (p.Leu3302Phe) c.9931C>T (p.Leu3311Phe) c.9955C>T (p.Leu3319Phe) c.9922C>T (p.Leu3308Phe) c.9895C>T (p.Leu3299Phe) c.7654C>T (p.Leu2552Phe) n.1058-4488C>T (p.=) n.2130-4488C>T | gnomAD |
| 13 | g.23333972G>C | CA387513403 | SACS | c.9463C>G (p.Leu3155Val) c.9904C>G (p.Leu3302Val) c.9931C>G (p.Leu3311Val) c.9955C>G (p.Leu3319Val) c.9922C>G (p.Leu3308Val) c.9895C>G (p.Leu3299Val) c.7654C>G (p.Leu2552Val) n.1058-4488C>G (p.=) n.2130-4488C>G | |
| 13 | g.23333972G>T | CA387513404 | SACS | c.9463C>A (p.Leu3155Ile) c.9904C>A (p.Leu3302Ile) c.9931C>A (p.Leu3311Ile) c.9955C>A (p.Leu3319Ile) c.9922C>A (p.Leu3308Ile) c.9895C>A (p.Leu3299Ile) c.7654C>A (p.Leu2552Ile) n.1058-4488C>A (p.=) n.2130-4488C>A | COSMIC COSMIC |
| 13 | g.23333973C>A | CA6910543 | SACS | c.9462G>T (p.Leu3154=) c.9903G>T (p.Leu3301=) c.9930G>T (p.Leu3310=) c.9954G>T (p.Leu3318=) c.9921G>T (p.Leu3307=) c.9894G>T (p.Leu3298=) c.7653G>T (p.Leu2551=) n.1058-4489G>T (p.=) n.2130-4489G>T | dbSNP ExAC gnomAD |
| 13 | g.23333973C>G | CA483159281 | SACS | c.9462G>C (p.Leu3154=) c.9903G>C (p.Leu3301=) c.9930G>C (p.Leu3310=) c.9954G>C (p.Leu3318=) c.9921G>C (p.Leu3307=) c.9894G>C (p.Leu3298=) c.7653G>C (p.Leu2551=) n.1058-4489G>C (p.=) n.2130-4489G>C | |
| 13 | g.23333973C>T | CA483159283 | SACS | c.9462G>A (p.Leu3154=) c.9903G>A (p.Leu3301=) c.9930G>A (p.Leu3310=) c.9954G>A (p.Leu3318=) c.9921G>A (p.Leu3307=) c.9894G>A (p.Leu3298=) c.7653G>A (p.Leu2551=) n.1058-4489G>A (p.=) n.2130-4489G>A | |
| 13 | g.23333974A>C | CA387513405 | SACS | c.9461T>G (p.Leu3154Arg) c.9902T>G (p.Leu3301Arg) c.9929T>G (p.Leu3310Arg) c.9953T>G (p.Leu3318Arg) c.9920T>G (p.Leu3307Arg) c.9893T>G (p.Leu3298Arg) c.7652T>G (p.Leu2551Arg) n.1058-4490T>G (p.=) n.2130-4490T>G | |
| 13 | g.23333974A>G | CA387513406 | SACS | c.9461T>C (p.Leu3154Pro) c.9902T>C (p.Leu3301Pro) c.9929T>C (p.Leu3310Pro) c.9953T>C (p.Leu3318Pro) c.9920T>C (p.Leu3307Pro) c.9893T>C (p.Leu3298Pro) c.7652T>C (p.Leu2551Pro) n.1058-4490T>C (p.=) n.2130-4490T>C | |
| 13 | g.23333974A>T | CA387513407 | SACS | c.9461T>A (p.Leu3154Gln) c.9902T>A (p.Leu3301Gln) c.9929T>A (p.Leu3310Gln) c.9953T>A (p.Leu3318Gln) c.9920T>A (p.Leu3307Gln) c.9893T>A (p.Leu3298Gln) c.7652T>A (p.Leu2551Gln) n.1058-4490T>A (p.=) n.2130-4490T>A | |
| 13 | g.23333975G>A | CA483159290 | SACS | c.9460C>T (p.Leu3154=) c.9901C>T (p.Leu3301=) c.9928C>T (p.Leu3310=) c.9952C>T (p.Leu3318=) c.9919C>T (p.Leu3307=) c.9892C>T (p.Leu3298=) c.7651C>T (p.Leu2551=) n.1058-4491C>T (p.=) n.2130-4491C>T | |
| 13 | g.23333975G>C | CA387513408 | SACS | c.9460C>G (p.Leu3154Val) c.9901C>G (p.Leu3301Val) c.9928C>G (p.Leu3310Val) c.9952C>G (p.Leu3318Val) c.9919C>G (p.Leu3307Val) c.9892C>G (p.Leu3298Val) c.7651C>G (p.Leu2551Val) n.1058-4491C>G (p.=) n.2130-4491C>G | gnomAD |
| 13 | g.23333975G>T | CA387513409 | SACS | c.9460C>A (p.Leu3154Met) c.9901C>A (p.Leu3301Met) c.9928C>A (p.Leu3310Met) c.9952C>A (p.Leu3318Met) c.9919C>A (p.Leu3307Met) c.9892C>A (p.Leu3298Met) c.7651C>A (p.Leu2551Met) n.1058-4491C>A (p.=) n.2130-4491C>A | |
| 13 | g.23333975_23333978del | CA912980202 | SACS | c.9457_9460del (p.Val3153CysfsTer24) c.9898_9901del (p.Val3300CysfsTer24) c.9925_9928del (p.Val3309CysfsTer24) c.9949_9952del (p.Val3317CysfsTer24) c.9916_9919del (p.Val3306CysfsTer24) c.9889_9892del (p.Val3297CysfsTer24) c.7648_7651del (p.Val2550CysfsTer24) n.1058-4494_1058-4491del (p.=) n.2130-4494_2130-4491del | |
| 13 | g.23333976A>C | CA483159292 | SACS | c.9459T>G (p.Val3153=) c.9900T>G (p.Val3300=) c.9927T>G (p.Val3309=) c.9951T>G (p.Val3317=) c.9918T>G (p.Val3306=) c.9891T>G (p.Val3297=) c.7650T>G (p.Val2550=) n.1058-4492T>G (p.=) n.2130-4492T>G | |
| 13 | g.23333976A>G | CA483159293 | SACS | c.9459T>C (p.Val3153=) c.9900T>C (p.Val3300=) c.9927T>C (p.Val3309=) c.9951T>C (p.Val3317=) c.9918T>C (p.Val3306=) c.9891T>C (p.Val3297=) c.7650T>C (p.Val2550=) n.1058-4492T>C (p.=) n.2130-4492T>C | |
| 13 | g.23333976A>T | CA483159294 | SACS | c.9459T>A (p.Val3153=) c.9900T>A (p.Val3300=) c.9927T>A (p.Val3309=) c.9951T>A (p.Val3317=) c.9918T>A (p.Val3306=) c.9891T>A (p.Val3297=) c.7650T>A (p.Val2550=) n.1058-4492T>A (p.=) n.2130-4492T>A | |
| 13 | g.23333976_23333978del | CA6910544 | SACS | c.9456_9458del (p.Val3153del) c.9897_9899del (p.Val3300del) c.9924_9926del (p.Val3309del) c.9948_9950del (p.Val3317del) c.9915_9917del (p.Val3306del) c.9888_9890del (p.Val3297del) c.7647_7649del (p.Val2550del) n.1058-4495_1058-4493del (p.=) n.2130-4495_2130-4493del | ClinVar dbSNP ExAC gnomAD |
| 13 | g.23333977A>C | CA387513410 | SACS | c.9458T>G (p.Val3153Gly) c.9899T>G (p.Val3300Gly) c.9926T>G (p.Val3309Gly) c.9950T>G (p.Val3317Gly) c.9917T>G (p.Val3306Gly) c.9890T>G (p.Val3297Gly) c.7649T>G (p.Val2550Gly) n.1058-4493T>G (p.=) n.2130-4493T>G | |
| 13 | g.23333977A>G | CA387513411 | SACS | c.9458T>C (p.Val3153Ala) c.9899T>C (p.Val3300Ala) c.9926T>C (p.Val3309Ala) c.9950T>C (p.Val3317Ala) c.9917T>C (p.Val3306Ala) c.9890T>C (p.Val3297Ala) c.7649T>C (p.Val2550Ala) n.1058-4493T>C (p.=) n.2130-4493T>C | |
| 13 | g.23333977A>T | CA387513412 | SACS | c.9458T>A (p.Val3153Asp) c.9899T>A (p.Val3300Asp) c.9926T>A (p.Val3309Asp) c.9950T>A (p.Val3317Asp) c.9917T>A (p.Val3306Asp) c.9890T>A (p.Val3297Asp) c.7649T>A (p.Val2550Asp) n.1058-4493T>A (p.=) n.2130-4493T>A | |
| 13 | g.23333978C>A | CA387513415 | SACS | c.9457G>T (p.Val3153Phe) c.9898G>T (p.Val3300Phe) c.9925G>T (p.Val3309Phe) c.9949G>T (p.Val3317Phe) c.9916G>T (p.Val3306Phe) c.9889G>T (p.Val3297Phe) c.7648G>T (p.Val2550Phe) n.1058-4494G>T (p.=) n.2130-4494G>T | gnomAD |
| 13 | g.23333978C>G | CA387513413 | SACS | c.9457G>C (p.Val3153Leu) c.9898G>C (p.Val3300Leu) c.9925G>C (p.Val3309Leu) c.9949G>C (p.Val3317Leu) c.9916G>C (p.Val3306Leu) c.9889G>C (p.Val3297Leu) c.7648G>C (p.Val2550Leu) n.1058-4494G>C (p.=) n.2130-4494G>C | |
| 13 | g.23333978C>T | CA387513414 | SACS | c.9457G>A (p.Val3153Ile) c.9898G>A (p.Val3300Ile) c.9925G>A (p.Val3309Ile) c.9949G>A (p.Val3317Ile) c.9916G>A (p.Val3306Ile) c.9889G>A (p.Val3297Ile) c.7648G>A (p.Val2550Ile) n.1058-4494G>A (p.=) n.2130-4494G>A | |
| 13 | g.23333979A>C | CA387513416 | SACS | c.9456T>G (p.Asp3152Glu) c.9897T>G (p.Asp3299Glu) c.9924T>G (p.Asp3308Glu) c.9948T>G (p.Asp3316Glu) c.9915T>G (p.Asp3305Glu) c.9888T>G (p.Asp3296Glu) c.7647T>G (p.Asp2549Glu) n.1058-4495T>G (p.=) n.2130-4495T>G | |
| 13 | g.23333979A>G | CA483159303 | SACS | c.9456T>C (p.Asp3152=) c.9897T>C (p.Asp3299=) c.9924T>C (p.Asp3308=) c.9948T>C (p.Asp3316=) c.9915T>C (p.Asp3305=) c.9888T>C (p.Asp3296=) c.7647T>C (p.Asp2549=) n.1058-4495T>C (p.=) n.2130-4495T>C | |
| 13 | g.23333979A>T | CA387513417 | SACS | c.9456T>A (p.Asp3152Glu) c.9897T>A (p.Asp3299Glu) c.9924T>A (p.Asp3308Glu) c.9948T>A (p.Asp3316Glu) c.9915T>A (p.Asp3305Glu) c.9888T>A (p.Asp3296Glu) c.7647T>A (p.Asp2549Glu) n.1058-4495T>A (p.=) n.2130-4495T>A | |
| 13 | g.23333980T>A | CA387513418 | SACS | c.9455A>T (p.Asp3152Val) c.9896A>T (p.Asp3299Val) c.9923A>T (p.Asp3308Val) c.9947A>T (p.Asp3316Val) c.9914A>T (p.Asp3305Val) c.9887A>T (p.Asp3296Val) c.7646A>T (p.Asp2549Val) n.1058-4496A>T (p.=) n.2130-4496A>T | gnomAD |
| 13 | g.23333980T>C | CA387513419 | SACS | c.9455A>G (p.Asp3152Gly) c.9896A>G (p.Asp3299Gly) c.9923A>G (p.Asp3308Gly) c.9947A>G (p.Asp3316Gly) c.9914A>G (p.Asp3305Gly) c.9887A>G (p.Asp3296Gly) c.7646A>G (p.Asp2549Gly) n.1058-4496A>G (p.=) n.2130-4496A>G | |
| 13 | g.23333980T>G | CA387513420 | SACS | c.9455A>C (p.Asp3152Ala) c.9896A>C (p.Asp3299Ala) c.9923A>C (p.Asp3308Ala) c.9947A>C (p.Asp3316Ala) c.9914A>C (p.Asp3305Ala) c.9887A>C (p.Asp3296Ala) c.7646A>C (p.Asp2549Ala) n.1058-4496A>C (p.=) n.2130-4496A>C | |
| 13 | g.23333980_23333983del | CA912980203 | SACS | c.9452_9455del (p.Gly3151ValfsTer26) c.9893_9896del (p.Gly3298ValfsTer26) c.9920_9923del (p.Gly3307ValfsTer26) c.9944_9947del (p.Gly3315ValfsTer26) c.9911_9914del (p.Gly3304ValfsTer26) c.9884_9887del (p.Gly3295ValfsTer26) c.7643_7646del (p.Gly2548ValfsTer26) n.1058-4499_1058-4496del (p.=) n.2130-4499_2130-4496del | |
| 13 | g.23333981C>A | CA387513421 | SACS | c.9454G>T (p.Asp3152Tyr) c.9895G>T (p.Asp3299Tyr) c.9922G>T (p.Asp3308Tyr) c.9946G>T (p.Asp3316Tyr) c.9913G>T (p.Asp3305Tyr) c.9886G>T (p.Asp3296Tyr) c.7645G>T (p.Asp2549Tyr) n.1058-4497G>T (p.=) n.2130-4497G>T | |
| 13 | g.23333981C>G | CA387513422 | SACS | c.9454G>C (p.Asp3152His) c.9895G>C (p.Asp3299His) c.9922G>C (p.Asp3308His) c.9946G>C (p.Asp3316His) c.9913G>C (p.Asp3305His) c.9886G>C (p.Asp3296His) c.7645G>C (p.Asp2549His) n.1058-4497G>C (p.=) n.2130-4497G>C |