| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23333869T>A | CA387513170 | SACS | c.9566A>T (p.Lys3189Ile) c.10007A>T (p.Lys3336Ile) c.10034A>T (p.Lys3345Ile) c.10058A>T (p.Lys3353Ile) c.10025A>T (p.Lys3342Ile) c.9998A>T (p.Lys3333Ile) c.7757A>T (p.Lys2586Ile) n.1058-4385A>T (p.=) n.2130-4385A>T | |
| 13 | g.23333869T>C | CA387513171 | SACS | c.9566A>G (p.Lys3189Arg) c.10007A>G (p.Lys3336Arg) c.10034A>G (p.Lys3345Arg) c.10058A>G (p.Lys3353Arg) c.10025A>G (p.Lys3342Arg) c.9998A>G (p.Lys3333Arg) c.7757A>G (p.Lys2586Arg) n.1058-4385A>G (p.=) n.2130-4385A>G | |
| 13 | g.23333869T>G | CA387513172 | SACS | c.9566A>C (p.Lys3189Thr) c.10007A>C (p.Lys3336Thr) c.10034A>C (p.Lys3345Thr) c.10058A>C (p.Lys3353Thr) c.10025A>C (p.Lys3342Thr) c.9998A>C (p.Lys3333Thr) c.7757A>C (p.Lys2586Thr) n.1058-4385A>C (p.=) n.2130-4385A>C | |
| 13 | g.23333870T>A | CA387513173 | SACS | c.9565A>T (p.Lys3189Ter) c.10006A>T (p.Lys3336Ter) c.10033A>T (p.Lys3345Ter) c.10057A>T (p.Lys3353Ter) c.10024A>T (p.Lys3342Ter) c.9997A>T (p.Lys3333Ter) c.7756A>T (p.Lys2586Ter) n.1058-4386A>T (p.=) n.2130-4386A>T | |
| 13 | g.23333870T>C | CA387513174 | SACS | c.9565A>G (p.Lys3189Glu) c.10006A>G (p.Lys3336Glu) c.10033A>G (p.Lys3345Glu) c.10057A>G (p.Lys3353Glu) c.10024A>G (p.Lys3342Glu) c.9997A>G (p.Lys3333Glu) c.7756A>G (p.Lys2586Glu) n.1058-4386A>G (p.=) n.2130-4386A>G | |
| 13 | g.23333870T>G | CA387513175 | SACS | c.9565A>C (p.Lys3189Gln) c.10006A>C (p.Lys3336Gln) c.10033A>C (p.Lys3345Gln) c.10057A>C (p.Lys3353Gln) c.10024A>C (p.Lys3342Gln) c.9997A>C (p.Lys3333Gln) c.7756A>C (p.Lys2586Gln) n.1058-4386A>C (p.=) n.2130-4386A>C | |
| 13 | g.23333871G>A | CA483158865 | SACS | c.9564C>T (p.Asn3188=) c.10005C>T (p.Asn3335=) c.10032C>T (p.Asn3344=) c.10056C>T (p.Asn3352=) c.10023C>T (p.Asn3341=) c.9996C>T (p.Asn3332=) c.7755C>T (p.Asn2585=) n.1058-4387C>T (p.=) n.2130-4387C>T | |
| 13 | g.23333871G>C | CA387513176 | SACS | c.9564C>G (p.Asn3188Lys) c.10005C>G (p.Asn3335Lys) c.10032C>G (p.Asn3344Lys) c.10056C>G (p.Asn3352Lys) c.10023C>G (p.Asn3341Lys) c.9996C>G (p.Asn3332Lys) c.7755C>G (p.Asn2585Lys) n.1058-4387C>G (p.=) n.2130-4387C>G | |
| 13 | g.23333871G>T | CA387513177 | SACS | c.9564C>A (p.Asn3188Lys) c.10005C>A (p.Asn3335Lys) c.10032C>A (p.Asn3344Lys) c.10056C>A (p.Asn3352Lys) c.10023C>A (p.Asn3341Lys) c.9996C>A (p.Asn3332Lys) c.7755C>A (p.Asn2585Lys) n.1058-4387C>A (p.=) n.2130-4387C>A | |
| 13 | g.23333872T>A | CA387513179 | SACS | c.9563A>T (p.Asn3188Ile) c.10004A>T (p.Asn3335Ile) c.10031A>T (p.Asn3344Ile) c.10055A>T (p.Asn3352Ile) c.10022A>T (p.Asn3341Ile) c.9995A>T (p.Asn3332Ile) c.7754A>T (p.Asn2585Ile) n.1058-4388A>T (p.=) n.2130-4388A>T | |
| 13 | g.23333872T>C | CA387513180 | SACS | c.9563A>G (p.Asn3188Ser) c.10004A>G (p.Asn3335Ser) c.10031A>G (p.Asn3344Ser) c.10055A>G (p.Asn3352Ser) c.10022A>G (p.Asn3341Ser) c.9995A>G (p.Asn3332Ser) c.7754A>G (p.Asn2585Ser) n.1058-4388A>G (p.=) n.2130-4388A>G | |
| 13 | g.23333872T>G | CA387513178 | SACS | c.9563A>C (p.Asn3188Thr) c.10004A>C (p.Asn3335Thr) c.10031A>C (p.Asn3344Thr) c.10055A>C (p.Asn3352Thr) c.10022A>C (p.Asn3341Thr) c.9995A>C (p.Asn3332Thr) c.7754A>C (p.Asn2585Thr) n.1058-4388A>C (p.=) n.2130-4388A>C | |
| 13 | g.23333873T>A | CA387513181 | SACS | c.9562A>T (p.Asn3188Tyr) c.10003A>T (p.Asn3335Tyr) c.10030A>T (p.Asn3344Tyr) c.10054A>T (p.Asn3352Tyr) c.10021A>T (p.Asn3341Tyr) c.9994A>T (p.Asn3332Tyr) c.7753A>T (p.Asn2585Tyr) n.1058-4389A>T (p.=) n.2130-4389A>T | |
| 13 | g.23333873T>C | CA387513182 | SACS | c.9562A>G (p.Asn3188Asp) c.10003A>G (p.Asn3335Asp) c.10030A>G (p.Asn3344Asp) c.10054A>G (p.Asn3352Asp) c.10021A>G (p.Asn3341Asp) c.9994A>G (p.Asn3332Asp) c.7753A>G (p.Asn2585Asp) n.1058-4389A>G (p.=) n.2130-4389A>G | |
| 13 | g.23333873T>G | CA387513183 | SACS | c.9562A>C (p.Asn3188His) c.10003A>C (p.Asn3335His) c.10030A>C (p.Asn3344His) c.10054A>C (p.Asn3352His) c.10021A>C (p.Asn3341His) c.9994A>C (p.Asn3332His) c.7753A>C (p.Asn2585His) n.1058-4389A>C (p.=) n.2130-4389A>C | |
| 13 | g.23333874C>A | CA387513184 | SACS | c.9561G>T (p.Leu3187Phe) c.10002G>T (p.Leu3334Phe) c.10029G>T (p.Leu3343Phe) c.10053G>T (p.Leu3351Phe) c.10020G>T (p.Leu3340Phe) c.9993G>T (p.Leu3331Phe) c.7752G>T (p.Leu2584Phe) n.1058-4390G>T (p.=) n.2130-4390G>T | |
| 13 | g.23333874C>G | CA387513185 | SACS | c.9561G>C (p.Leu3187Phe) c.10002G>C (p.Leu3334Phe) c.10029G>C (p.Leu3343Phe) c.10053G>C (p.Leu3351Phe) c.10020G>C (p.Leu3340Phe) c.9993G>C (p.Leu3331Phe) c.7752G>C (p.Leu2584Phe) n.1058-4390G>C (p.=) n.2130-4390G>C | |
| 13 | g.23333874C>T | CA483158869 | SACS | c.9561G>A (p.Leu3187=) c.10002G>A (p.Leu3334=) c.10029G>A (p.Leu3343=) c.10053G>A (p.Leu3351=) c.10020G>A (p.Leu3340=) c.9993G>A (p.Leu3331=) c.7752G>A (p.Leu2584=) n.1058-4390G>A (p.=) n.2130-4390G>A | |
| 13 | g.23333875A>C | CA387513188 | SACS | c.9560T>G (p.Leu3187Trp) c.10001T>G (p.Leu3334Trp) c.10028T>G (p.Leu3343Trp) c.10052T>G (p.Leu3351Trp) c.10019T>G (p.Leu3340Trp) c.9992T>G (p.Leu3331Trp) c.7751T>G (p.Leu2584Trp) n.1058-4391T>G (p.=) n.2130-4391T>G | |
| 13 | g.23333875A>G | CA387513186 | SACS | c.9560T>C (p.Leu3187Ser) c.10001T>C (p.Leu3334Ser) c.10028T>C (p.Leu3343Ser) c.10052T>C (p.Leu3351Ser) c.10019T>C (p.Leu3340Ser) c.9992T>C (p.Leu3331Ser) c.7751T>C (p.Leu2584Ser) n.1058-4391T>C (p.=) n.2130-4391T>C | |
| 13 | g.23333875A>T | CA387513187 | SACS | c.9560T>A (p.Leu3187Ter) c.10001T>A (p.Leu3334Ter) c.10028T>A (p.Leu3343Ter) c.10052T>A (p.Leu3351Ter) c.10019T>A (p.Leu3340Ter) c.9992T>A (p.Leu3331Ter) c.7751T>A (p.Leu2584Ter) n.1058-4391T>A (p.=) n.2130-4391T>A | |
| 13 | g.23333876A>C | CA387513189 | SACS | c.9559T>G (p.Leu3187Val) c.10000T>G (p.Leu3334Val) c.10027T>G (p.Leu3343Val) c.10051T>G (p.Leu3351Val) c.10018T>G (p.Leu3340Val) c.9991T>G (p.Leu3331Val) c.7750T>G (p.Leu2584Val) n.1058-4392T>G (p.=) n.2130-4392T>G | |
| 13 | g.23333876A>G | CA483158870 | SACS | c.9559T>C (p.Leu3187=) c.10000T>C (p.Leu3334=) c.10027T>C (p.Leu3343=) c.10051T>C (p.Leu3351=) c.10018T>C (p.Leu3340=) c.9991T>C (p.Leu3331=) c.7750T>C (p.Leu2584=) n.1058-4392T>C (p.=) n.2130-4392T>C | |
| 13 | g.23333876A>T | CA387513190 | SACS | c.9559T>A (p.Leu3187Met) c.10000T>A (p.Leu3334Met) c.10027T>A (p.Leu3343Met) c.10051T>A (p.Leu3351Met) c.10018T>A (p.Leu3340Met) c.9991T>A (p.Leu3331Met) c.7750T>A (p.Leu2584Met) n.1058-4392T>A (p.=) n.2130-4392T>A | |
| 13 | g.23333877A>C | CA483158872 | SACS | c.9558T>G (p.Ala3186=) c.9999T>G (p.Ala3333=) c.10026T>G (p.Ala3342=) c.10050T>G (p.Ala3350=) c.10017T>G (p.Ala3339=) c.9990T>G (p.Ala3330=) c.7749T>G (p.Ala2583=) n.1058-4393T>G (p.=) n.2130-4393T>G | |
| 13 | g.23333877A>G | CA483158874 | SACS | c.9558T>C (p.Ala3186=) c.9999T>C (p.Ala3333=) c.10026T>C (p.Ala3342=) c.10050T>C (p.Ala3350=) c.10017T>C (p.Ala3339=) c.9990T>C (p.Ala3330=) c.7749T>C (p.Ala2583=) n.1058-4393T>C (p.=) n.2130-4393T>C | |
| 13 | g.23333877A>T | CA483158875 | SACS | c.9558T>A (p.Ala3186=) c.9999T>A (p.Ala3333=) c.10026T>A (p.Ala3342=) c.10050T>A (p.Ala3350=) c.10017T>A (p.Ala3339=) c.9990T>A (p.Ala3330=) c.7749T>A (p.Ala2583=) n.1058-4393T>A (p.=) n.2130-4393T>A | |
| 13 | g.23333878G>A | CA6910527 | SACS | c.9557C>T (p.Ala3186Val) c.9998C>T (p.Ala3333Val) c.10025C>T (p.Ala3342Val) c.10049C>T (p.Ala3350Val) c.10016C>T (p.Ala3339Val) c.9989C>T (p.Ala3330Val) c.7748C>T (p.Ala2583Val) n.1058-4394C>T (p.=) n.2130-4394C>T | dbSNP ExAC gnomAD |
| 13 | g.23333878G>C | CA387513191 | SACS | c.9557C>G (p.Ala3186Gly) c.9998C>G (p.Ala3333Gly) c.10025C>G (p.Ala3342Gly) c.10049C>G (p.Ala3350Gly) c.10016C>G (p.Ala3339Gly) c.9989C>G (p.Ala3330Gly) c.7748C>G (p.Ala2583Gly) n.1058-4394C>G (p.=) n.2130-4394C>G | |
| 13 | g.23333878G>T | CA387513192 | SACS | c.9557C>A (p.Ala3186Asp) c.9998C>A (p.Ala3333Asp) c.10025C>A (p.Ala3342Asp) c.10049C>A (p.Ala3350Asp) c.10016C>A (p.Ala3339Asp) c.9989C>A (p.Ala3330Asp) c.7748C>A (p.Ala2583Asp) n.1058-4394C>A (p.=) n.2130-4394C>A | COSMIC COSMIC |
| 13 | g.23333879C>A | CA387513194 | SACS | c.9556G>T (p.Ala3186Ser) c.9997G>T (p.Ala3333Ser) c.10024G>T (p.Ala3342Ser) c.10048G>T (p.Ala3350Ser) c.10015G>T (p.Ala3339Ser) c.9988G>T (p.Ala3330Ser) c.7747G>T (p.Ala2583Ser) n.1058-4395G>T (p.=) n.2130-4395G>T | |
| 13 | g.23333879C>G | CA387513193 | SACS | c.9556G>C (p.Ala3186Pro) c.9997G>C (p.Ala3333Pro) c.10024G>C (p.Ala3342Pro) c.10048G>C (p.Ala3350Pro) c.10015G>C (p.Ala3339Pro) c.9988G>C (p.Ala3330Pro) c.7747G>C (p.Ala2583Pro) n.1058-4395G>C (p.=) n.2130-4395G>C | |
| 13 | g.23333879C>T | CA6910528 | SACS | c.9556G>A (p.Ala3186Thr) c.9997G>A (p.Ala3333Thr) c.10024G>A (p.Ala3342Thr) c.10048G>A (p.Ala3350Thr) c.10015G>A (p.Ala3339Thr) c.9988G>A (p.Ala3330Thr) c.7747G>A (p.Ala2583Thr) n.1058-4395G>A (p.=) n.2130-4395G>A | dbSNP ExAC |
| 13 | g.23333880A>C | CA483158879 | SACS | c.9555T>G (p.Leu3185=) c.9996T>G (p.Leu3332=) c.10023T>G (p.Leu3341=) c.10047T>G (p.Leu3349=) c.10014T>G (p.Leu3338=) c.9987T>G (p.Leu3329=) c.7746T>G (p.Leu2582=) n.1058-4396T>G (p.=) n.2130-4396T>G | |
| 13 | g.23333880A>G | CA483158880 | SACS | c.9555T>C (p.Leu3185=) c.9996T>C (p.Leu3332=) c.10023T>C (p.Leu3341=) c.10047T>C (p.Leu3349=) c.10014T>C (p.Leu3338=) c.9987T>C (p.Leu3329=) c.7746T>C (p.Leu2582=) n.1058-4396T>C (p.=) n.2130-4396T>C | gnomAD |
| 13 | g.23333880A>T | CA483158881 | SACS | c.9555T>A (p.Leu3185=) c.9996T>A (p.Leu3332=) c.10023T>A (p.Leu3341=) c.10047T>A (p.Leu3349=) c.10014T>A (p.Leu3338=) c.9987T>A (p.Leu3329=) c.7746T>A (p.Leu2582=) n.1058-4396T>A (p.=) n.2130-4396T>A | |
| 13 | g.23333881A>C | CA387513195 | SACS | c.9554T>G (p.Leu3185Arg) c.9995T>G (p.Leu3332Arg) c.10022T>G (p.Leu3341Arg) c.10046T>G (p.Leu3349Arg) c.10013T>G (p.Leu3338Arg) c.9986T>G (p.Leu3329Arg) c.7745T>G (p.Leu2582Arg) n.1058-4397T>G (p.=) n.2130-4397T>G | |
| 13 | g.23333881A>G | CA387513197 | SACS | c.9554T>C (p.Leu3185Pro) c.9995T>C (p.Leu3332Pro) c.10022T>C (p.Leu3341Pro) c.10046T>C (p.Leu3349Pro) c.10013T>C (p.Leu3338Pro) c.9986T>C (p.Leu3329Pro) c.7745T>C (p.Leu2582Pro) n.1058-4397T>C (p.=) n.2130-4397T>C | |
| 13 | g.23333881A>T | CA387513196 | SACS | c.9554T>A (p.Leu3185His) c.9995T>A (p.Leu3332His) c.10022T>A (p.Leu3341His) c.10046T>A (p.Leu3349His) c.10013T>A (p.Leu3338His) c.9986T>A (p.Leu3329His) c.7745T>A (p.Leu2582His) n.1058-4397T>A (p.=) n.2130-4397T>A | |
| 13 | g.23333882G>A | CA387513198 | SACS | c.9553C>T (p.Leu3185Phe) c.9994C>T (p.Leu3332Phe) c.10021C>T (p.Leu3341Phe) c.10045C>T (p.Leu3349Phe) c.10012C>T (p.Leu3338Phe) c.9985C>T (p.Leu3329Phe) c.7744C>T (p.Leu2582Phe) n.1058-4398C>T (p.=) n.2130-4398C>T | |
| 13 | g.23333882G>C | CA387513200 | SACS | c.9553C>G (p.Leu3185Val) c.9994C>G (p.Leu3332Val) c.10021C>G (p.Leu3341Val) c.10045C>G (p.Leu3349Val) c.10012C>G (p.Leu3338Val) c.9985C>G (p.Leu3329Val) c.7744C>G (p.Leu2582Val) n.1058-4398C>G (p.=) n.2130-4398C>G | |
| 13 | g.23333882G>T | CA387513199 | SACS | c.9553C>A (p.Leu3185Ile) c.9994C>A (p.Leu3332Ile) c.10021C>A (p.Leu3341Ile) c.10045C>A (p.Leu3349Ile) c.10012C>A (p.Leu3338Ile) c.9985C>A (p.Leu3329Ile) c.7744C>A (p.Leu2582Ile) n.1058-4398C>A (p.=) n.2130-4398C>A | |
| 13 | g.23333883C>A | CA387513201 | SACS | c.9552G>T (p.Gln3184His) c.9993G>T (p.Gln3331His) c.10020G>T (p.Gln3340His) c.10044G>T (p.Gln3348His) c.10011G>T (p.Gln3337His) c.9984G>T (p.Gln3328His) c.7743G>T (p.Gln2581His) n.1058-4399G>T (p.=) n.2130-4399G>T | |
| 13 | g.23333883C>G | CA387513202 | SACS | c.9552G>C (p.Gln3184His) c.9993G>C (p.Gln3331His) c.10020G>C (p.Gln3340His) c.10044G>C (p.Gln3348His) c.10011G>C (p.Gln3337His) c.9984G>C (p.Gln3328His) c.7743G>C (p.Gln2581His) n.1058-4399G>C (p.=) n.2130-4399G>C | |
| 13 | g.23333883C>T | CA483158883 | SACS | c.9552G>A (p.Gln3184=) c.9993G>A (p.Gln3331=) c.10020G>A (p.Gln3340=) c.10044G>A (p.Gln3348=) c.10011G>A (p.Gln3337=) c.9984G>A (p.Gln3328=) c.7743G>A (p.Gln2581=) n.1058-4399G>A (p.=) n.2130-4399G>A | |
| 13 | g.23333884T>A | CA387513203 | SACS | c.9551A>T (p.Gln3184Leu) c.9992A>T (p.Gln3331Leu) c.10019A>T (p.Gln3340Leu) c.10043A>T (p.Gln3348Leu) c.10010A>T (p.Gln3337Leu) c.9983A>T (p.Gln3328Leu) c.7742A>T (p.Gln2581Leu) n.1058-4400A>T (p.=) n.2130-4400A>T | |
| 13 | g.23333884T>C | CA387513204 | SACS | c.9551A>G (p.Gln3184Arg) c.9992A>G (p.Gln3331Arg) c.10019A>G (p.Gln3340Arg) c.10043A>G (p.Gln3348Arg) c.10010A>G (p.Gln3337Arg) c.9983A>G (p.Gln3328Arg) c.7742A>G (p.Gln2581Arg) n.1058-4400A>G (p.=) n.2130-4400A>G | |
| 13 | g.23333884T>G | CA387513205 | SACS | c.9551A>C (p.Gln3184Pro) c.9992A>C (p.Gln3331Pro) c.10019A>C (p.Gln3340Pro) c.10043A>C (p.Gln3348Pro) c.10010A>C (p.Gln3337Pro) c.9983A>C (p.Gln3328Pro) c.7742A>C (p.Gln2581Pro) n.1058-4400A>C (p.=) n.2130-4400A>C | |
| 13 | g.23333885G>A | CA387513206 | SACS | c.9550C>T (p.Gln3184Ter) c.9991C>T (p.Gln3331Ter) c.10018C>T (p.Gln3340Ter) c.10042C>T (p.Gln3348Ter) c.10009C>T (p.Gln3337Ter) c.9982C>T (p.Gln3328Ter) c.7741C>T (p.Gln2581Ter) n.1058-4401C>T (p.=) n.2130-4401C>T | |
| 13 | g.23333885G>C | CA387513207 | SACS | c.9550C>G (p.Gln3184Glu) c.9991C>G (p.Gln3331Glu) c.10018C>G (p.Gln3340Glu) c.10042C>G (p.Gln3348Glu) c.10009C>G (p.Gln3337Glu) c.9982C>G (p.Gln3328Glu) c.7741C>G (p.Gln2581Glu) n.1058-4401C>G (p.=) n.2130-4401C>G |