| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23333860G>A | CA387513148 | SACS | c.9575C>T (p.Ser3192Phe) c.10016C>T (p.Ser3339Phe) c.10043C>T (p.Ser3348Phe) c.10067C>T (p.Ser3356Phe) c.10034C>T (p.Ser3345Phe) c.10007C>T (p.Ser3336Phe) c.7766C>T (p.Ser2589Phe) n.1058-4376C>T (p.=) n.2130-4376C>T | |
| 13 | g.23333860G>C | CA387513149 | SACS | c.9575C>G (p.Ser3192Cys) c.10016C>G (p.Ser3339Cys) c.10043C>G (p.Ser3348Cys) c.10067C>G (p.Ser3356Cys) c.10034C>G (p.Ser3345Cys) c.10007C>G (p.Ser3336Cys) c.7766C>G (p.Ser2589Cys) n.1058-4376C>G (p.=) n.2130-4376C>G | |
| 13 | g.23333860G>T | CA387513150 | SACS | c.9575C>A (p.Ser3192Tyr) c.10016C>A (p.Ser3339Tyr) c.10043C>A (p.Ser3348Tyr) c.10067C>A (p.Ser3356Tyr) c.10034C>A (p.Ser3345Tyr) c.10007C>A (p.Ser3336Tyr) c.7766C>A (p.Ser2589Tyr) n.1058-4376C>A (p.=) n.2130-4376C>A | |
| 13 | g.23333861A>C | CA387513151 | SACS | c.9574T>G (p.Ser3192Ala) c.10015T>G (p.Ser3339Ala) c.10042T>G (p.Ser3348Ala) c.10066T>G (p.Ser3356Ala) c.10033T>G (p.Ser3345Ala) c.10006T>G (p.Ser3336Ala) c.7765T>G (p.Ser2589Ala) n.1058-4377T>G (p.=) n.2130-4377T>G | |
| 13 | g.23333861A>G | CA387513152 | SACS | c.9574T>C (p.Ser3192Pro) c.10015T>C (p.Ser3339Pro) c.10042T>C (p.Ser3348Pro) c.10066T>C (p.Ser3356Pro) c.10033T>C (p.Ser3345Pro) c.10006T>C (p.Ser3336Pro) c.7765T>C (p.Ser2589Pro) n.1058-4377T>C (p.=) n.2130-4377T>C | |
| 13 | g.23333861A>T | CA387513153 | SACS | c.9574T>A (p.Ser3192Thr) c.10015T>A (p.Ser3339Thr) c.10042T>A (p.Ser3348Thr) c.10066T>A (p.Ser3356Thr) c.10033T>A (p.Ser3345Thr) c.10006T>A (p.Ser3336Thr) c.7765T>A (p.Ser2589Thr) n.1058-4377T>A (p.=) n.2130-4377T>A | |
| 13 | g.23333862A>C | CA387513154 | SACS | c.9573T>G (p.Cys3191Trp) c.10014T>G (p.Cys3338Trp) c.10041T>G (p.Cys3347Trp) c.10065T>G (p.Cys3355Trp) c.10032T>G (p.Cys3344Trp) c.10005T>G (p.Cys3335Trp) c.7764T>G (p.Cys2588Trp) n.1058-4378T>G (p.=) n.2130-4378T>G | |
| 13 | g.23333862A>G | CA483158857 | SACS | c.9573T>C (p.Cys3191=) c.10014T>C (p.Cys3338=) c.10041T>C (p.Cys3347=) c.10065T>C (p.Cys3355=) c.10032T>C (p.Cys3344=) c.10005T>C (p.Cys3335=) c.7764T>C (p.Cys2588=) n.1058-4378T>C (p.=) n.2130-4378T>C | |
| 13 | g.23333862A>T | CA387513155 | SACS | c.9573T>A (p.Cys3191Ter) c.10014T>A (p.Cys3338Ter) c.10041T>A (p.Cys3347Ter) c.10065T>A (p.Cys3355Ter) c.10032T>A (p.Cys3344Ter) c.10005T>A (p.Cys3335Ter) c.7764T>A (p.Cys2588Ter) n.1058-4378T>A (p.=) n.2130-4378T>A | |
| 13 | g.23333863C>A | CA387513156 | SACS | c.9572G>T (p.Cys3191Phe) c.10013G>T (p.Cys3338Phe) c.10040G>T (p.Cys3347Phe) c.10064G>T (p.Cys3355Phe) c.10031G>T (p.Cys3344Phe) c.10004G>T (p.Cys3335Phe) c.7763G>T (p.Cys2588Phe) n.1058-4379G>T (p.=) n.2130-4379G>T | |
| 13 | g.23333863C>G | CA6910524 | SACS | c.9572G>C (p.Cys3191Ser) c.10013G>C (p.Cys3338Ser) c.10040G>C (p.Cys3347Ser) c.10064G>C (p.Cys3355Ser) c.10031G>C (p.Cys3344Ser) c.10004G>C (p.Cys3335Ser) c.7763G>C (p.Cys2588Ser) n.1058-4379G>C (p.=) n.2130-4379G>C | dbSNP ExAC gnomAD |
| 13 | g.23333863C>T | CA387513157 | SACS | c.9572G>A (p.Cys3191Tyr) c.10013G>A (p.Cys3338Tyr) c.10040G>A (p.Cys3347Tyr) c.10064G>A (p.Cys3355Tyr) c.10031G>A (p.Cys3344Tyr) c.10004G>A (p.Cys3335Tyr) c.7763G>A (p.Cys2588Tyr) n.1058-4379G>A (p.=) n.2130-4379G>A | |
| 13 | g.23333864A>C | CA387513158 | SACS | c.9571T>G (p.Cys3191Gly) c.10012T>G (p.Cys3338Gly) c.10039T>G (p.Cys3347Gly) c.10063T>G (p.Cys3355Gly) c.10030T>G (p.Cys3344Gly) c.10003T>G (p.Cys3335Gly) c.7762T>G (p.Cys2588Gly) n.1058-4380T>G (p.=) n.2130-4380T>G | |
| 13 | g.23333864A>G | CA387513159 | SACS | c.9571T>C (p.Cys3191Arg) c.10012T>C (p.Cys3338Arg) c.10039T>C (p.Cys3347Arg) c.10063T>C (p.Cys3355Arg) c.10030T>C (p.Cys3344Arg) c.10003T>C (p.Cys3335Arg) c.7762T>C (p.Cys2588Arg) n.1058-4380T>C (p.=) n.2130-4380T>C | |
| 13 | g.23333864A>T | CA387513160 | SACS | c.9571T>A (p.Cys3191Ser) c.10012T>A (p.Cys3338Ser) c.10039T>A (p.Cys3347Ser) c.10063T>A (p.Cys3355Ser) c.10030T>A (p.Cys3344Ser) c.10003T>A (p.Cys3335Ser) c.7762T>A (p.Cys2588Ser) n.1058-4380T>A (p.=) n.2130-4380T>A | |
| 13 | g.23333865G>A | CA6910525 | SACS | c.9570C>T (p.Ile3190=) c.10011C>T (p.Ile3337=) c.10038C>T (p.Ile3346=) c.10062C>T (p.Ile3354=) c.10029C>T (p.Ile3343=) c.10002C>T (p.Ile3334=) c.7761C>T (p.Ile2587=) n.1058-4381C>T (p.=) n.2130-4381C>T | dbSNP ExAC gnomAD |
| 13 | g.23333865G>C | CA387513161 | SACS | c.9570C>G (p.Ile3190Met) c.10011C>G (p.Ile3337Met) c.10038C>G (p.Ile3346Met) c.10062C>G (p.Ile3354Met) c.10029C>G (p.Ile3343Met) c.10002C>G (p.Ile3334Met) c.7761C>G (p.Ile2587Met) n.1058-4381C>G (p.=) n.2130-4381C>G | |
| 13 | g.23333865G>T | CA483158861 | SACS | c.9570C>A (p.Ile3190=) c.10011C>A (p.Ile3337=) c.10038C>A (p.Ile3346=) c.10062C>A (p.Ile3354=) c.10029C>A (p.Ile3343=) c.10002C>A (p.Ile3334=) c.7761C>A (p.Ile2587=) n.1058-4381C>A (p.=) n.2130-4381C>A | |
| 13 | g.23333866A>C | CA387513162 | SACS | c.9569T>G (p.Ile3190Ser) c.10010T>G (p.Ile3337Ser) c.10037T>G (p.Ile3346Ser) c.10061T>G (p.Ile3354Ser) c.10028T>G (p.Ile3343Ser) c.10001T>G (p.Ile3334Ser) c.7760T>G (p.Ile2587Ser) n.1058-4382T>G (p.=) n.2130-4382T>G | |
| 13 | g.23333866A>G | CA387513163 | SACS | c.9569T>C (p.Ile3190Thr) c.10010T>C (p.Ile3337Thr) c.10037T>C (p.Ile3346Thr) c.10061T>C (p.Ile3354Thr) c.10028T>C (p.Ile3343Thr) c.10001T>C (p.Ile3334Thr) c.7760T>C (p.Ile2587Thr) n.1058-4382T>C (p.=) n.2130-4382T>C | |
| 13 | g.23333866A>T | CA387513164 | SACS | c.9569T>A (p.Ile3190Asn) c.10010T>A (p.Ile3337Asn) c.10037T>A (p.Ile3346Asn) c.10061T>A (p.Ile3354Asn) c.10028T>A (p.Ile3343Asn) c.10001T>A (p.Ile3334Asn) c.7760T>A (p.Ile2587Asn) n.1058-4382T>A (p.=) n.2130-4382T>A | |
| 13 | g.23333867T>A | CA387513166 | SACS | c.9568A>T (p.Ile3190Phe) c.10009A>T (p.Ile3337Phe) c.10036A>T (p.Ile3346Phe) c.10060A>T (p.Ile3354Phe) c.10027A>T (p.Ile3343Phe) c.10000A>T (p.Ile3334Phe) c.7759A>T (p.Ile2587Phe) n.1058-4383A>T (p.=) n.2130-4383A>T | |
| 13 | g.23333867T>C | CA387513167 | SACS | c.9568A>G (p.Ile3190Val) c.10009A>G (p.Ile3337Val) c.10036A>G (p.Ile3346Val) c.10060A>G (p.Ile3354Val) c.10027A>G (p.Ile3343Val) c.10000A>G (p.Ile3334Val) c.7759A>G (p.Ile2587Val) n.1058-4383A>G (p.=) n.2130-4383A>G | COSMIC COSMIC |
| 13 | g.23333867T>G | CA387513165 | SACS | c.9568A>C (p.Ile3190Leu) c.10009A>C (p.Ile3337Leu) c.10036A>C (p.Ile3346Leu) c.10060A>C (p.Ile3354Leu) c.10027A>C (p.Ile3343Leu) c.10000A>C (p.Ile3334Leu) c.7759A>C (p.Ile2587Leu) n.1058-4383A>C (p.=) n.2130-4383A>C | |
| 13 | g.23333868T>A | CA387513168 | SACS | c.9567A>T (p.Lys3189Asn) c.10008A>T (p.Lys3336Asn) c.10035A>T (p.Lys3345Asn) c.10059A>T (p.Lys3353Asn) c.10026A>T (p.Lys3342Asn) c.9999A>T (p.Lys3333Asn) c.7758A>T (p.Lys2586Asn) n.1058-4384A>T (p.=) n.2130-4384A>T | |
| 13 | g.23333868T>C | CA6910526 | SACS | c.9567A>G (p.Lys3189=) c.10008A>G (p.Lys3336=) c.10035A>G (p.Lys3345=) c.10059A>G (p.Lys3353=) c.10026A>G (p.Lys3342=) c.9999A>G (p.Lys3333=) c.7758A>G (p.Lys2586=) n.1058-4384A>G (p.=) n.2130-4384A>G | ClinVar dbSNP ExAC gnomAD |
| 13 | g.23333868T>G | CA387513169 | SACS | c.9567A>C (p.Lys3189Asn) c.10008A>C (p.Lys3336Asn) c.10035A>C (p.Lys3345Asn) c.10059A>C (p.Lys3353Asn) c.10026A>C (p.Lys3342Asn) c.9999A>C (p.Lys3333Asn) c.7758A>C (p.Lys2586Asn) n.1058-4384A>C (p.=) n.2130-4384A>C | |
| 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 |