| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23333856T>A | CA387513140 | SACS | c.10020A>T (p.Lys3340Asn) c.7770A>T (p.Lys2590Asn) n.1058-4372A>T (p.=) c.9579A>T (p.Lys3193Asn) c.10047A>T (p.Lys3349Asn) c.10071A>T (p.Lys3357Asn) c.10038A>T (p.Lys3346Asn) c.10011A>T (p.Lys3337Asn) | |
| 13 | g.23333856T>C | CA483158852 | SACS | c.10020A>G (p.Lys3340=) c.7770A>G (p.Lys2590=) n.1058-4372A>G (p.=) c.9579A>G (p.Lys3193=) c.10047A>G (p.Lys3349=) c.10071A>G (p.Lys3357=) c.10038A>G (p.Lys3346=) c.10011A>G (p.Lys3337=) | |
| 13 | g.23333856T>G | CA387513141 | SACS | c.10020A>C (p.Lys3340Asn) c.7770A>C (p.Lys2590Asn) n.1058-4372A>C (p.=) c.9579A>C (p.Lys3193Asn) c.10047A>C (p.Lys3349Asn) c.10071A>C (p.Lys3357Asn) c.10038A>C (p.Lys3346Asn) c.10011A>C (p.Lys3337Asn) | |
| 13 | g.23333857T>A | CA387513142 | SACS | c.10019A>T (p.Lys3340Ile) c.7769A>T (p.Lys2590Ile) n.1058-4373A>T (p.=) c.9578A>T (p.Lys3193Ile) c.10046A>T (p.Lys3349Ile) c.10070A>T (p.Lys3357Ile) c.10037A>T (p.Lys3346Ile) c.10010A>T (p.Lys3337Ile) | |
| 13 | g.23333857T>C | CA387513143 | SACS | c.10019A>G (p.Lys3340Arg) c.7769A>G (p.Lys2590Arg) n.1058-4373A>G (p.=) c.9578A>G (p.Lys3193Arg) c.10046A>G (p.Lys3349Arg) c.10070A>G (p.Lys3357Arg) c.10037A>G (p.Lys3346Arg) c.10010A>G (p.Lys3337Arg) | |
| 13 | g.23333857T>G | CA387513144 | SACS | c.10019A>C (p.Lys3340Thr) c.7769A>C (p.Lys2590Thr) n.1058-4373A>C (p.=) c.9578A>C (p.Lys3193Thr) c.10046A>C (p.Lys3349Thr) c.10070A>C (p.Lys3357Thr) c.10037A>C (p.Lys3346Thr) c.10010A>C (p.Lys3337Thr) | |
| 13 | g.23333858T>A | CA387513145 | SACS | c.10018A>T (p.Lys3340Ter) c.7768A>T (p.Lys2590Ter) n.1058-4374A>T (p.=) c.9577A>T (p.Lys3193Ter) c.10045A>T (p.Lys3349Ter) c.10069A>T (p.Lys3357Ter) c.10036A>T (p.Lys3346Ter) c.10009A>T (p.Lys3337Ter) | |
| 13 | g.23333858T>C | CA387513146 | SACS | c.10018A>G (p.Lys3340Glu) c.7768A>G (p.Lys2590Glu) n.1058-4374A>G (p.=) c.9577A>G (p.Lys3193Glu) c.10045A>G (p.Lys3349Glu) c.10069A>G (p.Lys3357Glu) c.10036A>G (p.Lys3346Glu) c.10009A>G (p.Lys3337Glu) | |
| 13 | g.23333858T>G | CA387513147 | SACS | c.10018A>C (p.Lys3340Gln) c.7768A>C (p.Lys2590Gln) n.1058-4374A>C (p.=) c.9577A>C (p.Lys3193Gln) c.10045A>C (p.Lys3349Gln) c.10069A>C (p.Lys3357Gln) c.10036A>C (p.Lys3346Gln) c.10009A>C (p.Lys3337Gln) | |
| 13 | g.23333859G>A | CA483158854 | SACS | c.10017C>T (p.Ser3339=) c.7767C>T (p.Ser2589=) n.1058-4375C>T (p.=) c.9576C>T (p.Ser3192=) c.10044C>T (p.Ser3348=) c.10068C>T (p.Ser3356=) c.10035C>T (p.Ser3345=) c.10008C>T (p.Ser3336=) | |
| 13 | g.23333859G>C | CA483158855 | SACS | c.10017C>G (p.Ser3339=) c.7767C>G (p.Ser2589=) n.1058-4375C>G (p.=) c.9576C>G (p.Ser3192=) c.10044C>G (p.Ser3348=) c.10068C>G (p.Ser3356=) c.10035C>G (p.Ser3345=) c.10008C>G (p.Ser3336=) | |
| 13 | g.23333859G>T | CA483158856 | SACS | c.10017C>A (p.Ser3339=) c.7767C>A (p.Ser2589=) n.1058-4375C>A (p.=) c.9576C>A (p.Ser3192=) c.10044C>A (p.Ser3348=) c.10068C>A (p.Ser3356=) c.10035C>A (p.Ser3345=) c.10008C>A (p.Ser3336=) | |
| 13 | g.23333860G>A | CA387513148 | SACS | c.10016C>T (p.Ser3339Phe) c.7766C>T (p.Ser2589Phe) n.1058-4376C>T (p.=) c.9575C>T (p.Ser3192Phe) c.10043C>T (p.Ser3348Phe) c.10067C>T (p.Ser3356Phe) c.10034C>T (p.Ser3345Phe) c.10007C>T (p.Ser3336Phe) | |
| 13 | g.23333860G>C | CA387513149 | SACS | c.10016C>G (p.Ser3339Cys) c.7766C>G (p.Ser2589Cys) n.1058-4376C>G (p.=) c.9575C>G (p.Ser3192Cys) c.10043C>G (p.Ser3348Cys) c.10067C>G (p.Ser3356Cys) c.10034C>G (p.Ser3345Cys) c.10007C>G (p.Ser3336Cys) | |
| 13 | g.23333860G>T | CA387513150 | SACS | c.10016C>A (p.Ser3339Tyr) c.7766C>A (p.Ser2589Tyr) n.1058-4376C>A (p.=) c.9575C>A (p.Ser3192Tyr) c.10043C>A (p.Ser3348Tyr) c.10067C>A (p.Ser3356Tyr) c.10034C>A (p.Ser3345Tyr) c.10007C>A (p.Ser3336Tyr) | |
| 13 | g.23333861A>C | CA387513151 | SACS | c.10015T>G (p.Ser3339Ala) c.7765T>G (p.Ser2589Ala) n.1058-4377T>G (p.=) c.9574T>G (p.Ser3192Ala) c.10042T>G (p.Ser3348Ala) c.10066T>G (p.Ser3356Ala) c.10033T>G (p.Ser3345Ala) c.10006T>G (p.Ser3336Ala) | |
| 13 | g.23333861A>G | CA387513152 | SACS | c.10015T>C (p.Ser3339Pro) c.7765T>C (p.Ser2589Pro) n.1058-4377T>C (p.=) c.9574T>C (p.Ser3192Pro) c.10042T>C (p.Ser3348Pro) c.10066T>C (p.Ser3356Pro) c.10033T>C (p.Ser3345Pro) c.10006T>C (p.Ser3336Pro) | |
| 13 | g.23333861A>T | CA387513153 | SACS | c.10015T>A (p.Ser3339Thr) c.7765T>A (p.Ser2589Thr) n.1058-4377T>A (p.=) c.9574T>A (p.Ser3192Thr) c.10042T>A (p.Ser3348Thr) c.10066T>A (p.Ser3356Thr) c.10033T>A (p.Ser3345Thr) c.10006T>A (p.Ser3336Thr) | |
| 13 | g.23333862A>C | CA387513154 | SACS | c.10014T>G (p.Cys3338Trp) c.7764T>G (p.Cys2588Trp) n.1058-4378T>G (p.=) c.9573T>G (p.Cys3191Trp) c.10041T>G (p.Cys3347Trp) c.10065T>G (p.Cys3355Trp) c.10032T>G (p.Cys3344Trp) c.10005T>G (p.Cys3335Trp) | |
| 13 | g.23333862A>G | CA483158857 | SACS | c.10014T>C (p.Cys3338=) c.7764T>C (p.Cys2588=) n.1058-4378T>C (p.=) c.9573T>C (p.Cys3191=) c.10041T>C (p.Cys3347=) c.10065T>C (p.Cys3355=) c.10032T>C (p.Cys3344=) c.10005T>C (p.Cys3335=) | |
| 13 | g.23333862A>T | CA387513155 | SACS | c.10014T>A (p.Cys3338Ter) c.7764T>A (p.Cys2588Ter) n.1058-4378T>A (p.=) c.9573T>A (p.Cys3191Ter) c.10041T>A (p.Cys3347Ter) c.10065T>A (p.Cys3355Ter) c.10032T>A (p.Cys3344Ter) c.10005T>A (p.Cys3335Ter) | |
| 13 | g.23333863C>A | CA387513156 | SACS | c.10013G>T (p.Cys3338Phe) c.7763G>T (p.Cys2588Phe) n.1058-4379G>T (p.=) c.9572G>T (p.Cys3191Phe) c.10040G>T (p.Cys3347Phe) c.10064G>T (p.Cys3355Phe) c.10031G>T (p.Cys3344Phe) c.10004G>T (p.Cys3335Phe) | |
| 13 | g.23333863C>G | CA6910524 | SACS | c.10013G>C (p.Cys3338Ser) c.7763G>C (p.Cys2588Ser) n.1058-4379G>C (p.=) c.9572G>C (p.Cys3191Ser) c.10040G>C (p.Cys3347Ser) c.10064G>C (p.Cys3355Ser) c.10031G>C (p.Cys3344Ser) c.10004G>C (p.Cys3335Ser) | dbSNP ExAC gnomAD |
| 13 | g.23333863C>T | CA387513157 | SACS | c.10013G>A (p.Cys3338Tyr) c.7763G>A (p.Cys2588Tyr) n.1058-4379G>A (p.=) c.9572G>A (p.Cys3191Tyr) c.10040G>A (p.Cys3347Tyr) c.10064G>A (p.Cys3355Tyr) c.10031G>A (p.Cys3344Tyr) c.10004G>A (p.Cys3335Tyr) | |
| 13 | g.23333864A>C | CA387513158 | SACS | c.10012T>G (p.Cys3338Gly) c.7762T>G (p.Cys2588Gly) n.1058-4380T>G (p.=) c.9571T>G (p.Cys3191Gly) c.10039T>G (p.Cys3347Gly) c.10063T>G (p.Cys3355Gly) c.10030T>G (p.Cys3344Gly) c.10003T>G (p.Cys3335Gly) | |
| 13 | g.23333864A>G | CA387513159 | SACS | c.10012T>C (p.Cys3338Arg) c.7762T>C (p.Cys2588Arg) n.1058-4380T>C (p.=) c.9571T>C (p.Cys3191Arg) c.10039T>C (p.Cys3347Arg) c.10063T>C (p.Cys3355Arg) c.10030T>C (p.Cys3344Arg) c.10003T>C (p.Cys3335Arg) | |
| 13 | g.23333864A>T | CA387513160 | SACS | c.10012T>A (p.Cys3338Ser) c.7762T>A (p.Cys2588Ser) n.1058-4380T>A (p.=) c.9571T>A (p.Cys3191Ser) c.10039T>A (p.Cys3347Ser) c.10063T>A (p.Cys3355Ser) c.10030T>A (p.Cys3344Ser) c.10003T>A (p.Cys3335Ser) | |
| 13 | g.23333865G>A | CA6910525 | SACS | c.10011C>T (p.Ile3337=) c.7761C>T (p.Ile2587=) n.1058-4381C>T (p.=) c.9570C>T (p.Ile3190=) c.10038C>T (p.Ile3346=) c.10062C>T (p.Ile3354=) c.10029C>T (p.Ile3343=) c.10002C>T (p.Ile3334=) | dbSNP ExAC gnomAD |
| 13 | g.23333865G>C | CA387513161 | SACS | c.10011C>G (p.Ile3337Met) c.7761C>G (p.Ile2587Met) n.1058-4381C>G (p.=) c.9570C>G (p.Ile3190Met) c.10038C>G (p.Ile3346Met) c.10062C>G (p.Ile3354Met) c.10029C>G (p.Ile3343Met) c.10002C>G (p.Ile3334Met) | |
| 13 | g.23333865G>T | CA483158861 | SACS | c.10011C>A (p.Ile3337=) c.7761C>A (p.Ile2587=) n.1058-4381C>A (p.=) c.9570C>A (p.Ile3190=) c.10038C>A (p.Ile3346=) c.10062C>A (p.Ile3354=) c.10029C>A (p.Ile3343=) c.10002C>A (p.Ile3334=) | |
| 13 | g.23333866A>C | CA387513162 | SACS | c.10010T>G (p.Ile3337Ser) c.7760T>G (p.Ile2587Ser) n.1058-4382T>G (p.=) c.9569T>G (p.Ile3190Ser) c.10037T>G (p.Ile3346Ser) c.10061T>G (p.Ile3354Ser) c.10028T>G (p.Ile3343Ser) c.10001T>G (p.Ile3334Ser) | |
| 13 | g.23333866A>G | CA387513163 | SACS | c.10010T>C (p.Ile3337Thr) c.7760T>C (p.Ile2587Thr) n.1058-4382T>C (p.=) c.9569T>C (p.Ile3190Thr) c.10037T>C (p.Ile3346Thr) c.10061T>C (p.Ile3354Thr) c.10028T>C (p.Ile3343Thr) c.10001T>C (p.Ile3334Thr) | |
| 13 | g.23333866A>T | CA387513164 | SACS | c.10010T>A (p.Ile3337Asn) c.7760T>A (p.Ile2587Asn) n.1058-4382T>A (p.=) c.9569T>A (p.Ile3190Asn) c.10037T>A (p.Ile3346Asn) c.10061T>A (p.Ile3354Asn) c.10028T>A (p.Ile3343Asn) c.10001T>A (p.Ile3334Asn) | |
| 13 | g.23333867T>A | CA387513166 | SACS | c.10009A>T (p.Ile3337Phe) c.7759A>T (p.Ile2587Phe) n.1058-4383A>T (p.=) c.9568A>T (p.Ile3190Phe) c.10036A>T (p.Ile3346Phe) c.10060A>T (p.Ile3354Phe) c.10027A>T (p.Ile3343Phe) c.10000A>T (p.Ile3334Phe) | |
| 13 | g.23333867T>C | CA387513167 | SACS | c.10009A>G (p.Ile3337Val) c.7759A>G (p.Ile2587Val) n.1058-4383A>G (p.=) c.9568A>G (p.Ile3190Val) c.10036A>G (p.Ile3346Val) c.10060A>G (p.Ile3354Val) c.10027A>G (p.Ile3343Val) c.10000A>G (p.Ile3334Val) | COSMIC COSMIC |
| 13 | g.23333867T>G | CA387513165 | SACS | c.10009A>C (p.Ile3337Leu) c.7759A>C (p.Ile2587Leu) n.1058-4383A>C (p.=) c.9568A>C (p.Ile3190Leu) c.10036A>C (p.Ile3346Leu) c.10060A>C (p.Ile3354Leu) c.10027A>C (p.Ile3343Leu) c.10000A>C (p.Ile3334Leu) | |
| 13 | g.23333868T>A | CA387513168 | SACS | c.10008A>T (p.Lys3336Asn) c.7758A>T (p.Lys2586Asn) n.1058-4384A>T (p.=) c.9567A>T (p.Lys3189Asn) c.10035A>T (p.Lys3345Asn) c.10059A>T (p.Lys3353Asn) c.10026A>T (p.Lys3342Asn) c.9999A>T (p.Lys3333Asn) | |
| 13 | g.23333868T>C | CA6910526 | SACS | c.10008A>G (p.Lys3336=) c.7758A>G (p.Lys2586=) n.1058-4384A>G (p.=) c.9567A>G (p.Lys3189=) c.10035A>G (p.Lys3345=) c.10059A>G (p.Lys3353=) c.10026A>G (p.Lys3342=) c.9999A>G (p.Lys3333=) | ClinVar dbSNP ExAC gnomAD |
| 13 | g.23333868T>G | CA387513169 | SACS | c.10008A>C (p.Lys3336Asn) c.7758A>C (p.Lys2586Asn) n.1058-4384A>C (p.=) c.9567A>C (p.Lys3189Asn) c.10035A>C (p.Lys3345Asn) c.10059A>C (p.Lys3353Asn) c.10026A>C (p.Lys3342Asn) c.9999A>C (p.Lys3333Asn) | |
| 13 | g.23333869T>A | CA387513170 | SACS | c.10007A>T (p.Lys3336Ile) c.7757A>T (p.Lys2586Ile) n.1058-4385A>T (p.=) c.9566A>T (p.Lys3189Ile) c.10034A>T (p.Lys3345Ile) c.10058A>T (p.Lys3353Ile) c.10025A>T (p.Lys3342Ile) c.9998A>T (p.Lys3333Ile) | |
| 13 | g.23333869T>C | CA387513171 | SACS | c.10007A>G (p.Lys3336Arg) c.7757A>G (p.Lys2586Arg) n.1058-4385A>G (p.=) c.9566A>G (p.Lys3189Arg) c.10034A>G (p.Lys3345Arg) c.10058A>G (p.Lys3353Arg) c.10025A>G (p.Lys3342Arg) c.9998A>G (p.Lys3333Arg) | |
| 13 | g.23333869T>G | CA387513172 | SACS | c.10007A>C (p.Lys3336Thr) c.7757A>C (p.Lys2586Thr) n.1058-4385A>C (p.=) c.9566A>C (p.Lys3189Thr) c.10034A>C (p.Lys3345Thr) c.10058A>C (p.Lys3353Thr) c.10025A>C (p.Lys3342Thr) c.9998A>C (p.Lys3333Thr) | |
| 13 | g.23333870T>A | CA387513173 | SACS | c.10006A>T (p.Lys3336Ter) c.7756A>T (p.Lys2586Ter) n.1058-4386A>T (p.=) c.9565A>T (p.Lys3189Ter) c.10033A>T (p.Lys3345Ter) c.10057A>T (p.Lys3353Ter) c.10024A>T (p.Lys3342Ter) c.9997A>T (p.Lys3333Ter) | |
| 13 | g.23333870T>C | CA387513174 | SACS | c.10006A>G (p.Lys3336Glu) c.7756A>G (p.Lys2586Glu) n.1058-4386A>G (p.=) c.9565A>G (p.Lys3189Glu) c.10033A>G (p.Lys3345Glu) c.10057A>G (p.Lys3353Glu) c.10024A>G (p.Lys3342Glu) c.9997A>G (p.Lys3333Glu) | |
| 13 | g.23333870T>G | CA387513175 | SACS | c.10006A>C (p.Lys3336Gln) c.7756A>C (p.Lys2586Gln) n.1058-4386A>C (p.=) c.9565A>C (p.Lys3189Gln) c.10033A>C (p.Lys3345Gln) c.10057A>C (p.Lys3353Gln) c.10024A>C (p.Lys3342Gln) c.9997A>C (p.Lys3333Gln) | |
| 13 | g.23333871G>A | CA483158865 | SACS | c.10005C>T (p.Asn3335=) c.7755C>T (p.Asn2585=) n.1058-4387C>T (p.=) c.9564C>T (p.Asn3188=) c.10032C>T (p.Asn3344=) c.10056C>T (p.Asn3352=) c.10023C>T (p.Asn3341=) c.9996C>T (p.Asn3332=) | |
| 13 | g.23333871G>C | CA387513176 | SACS | c.10005C>G (p.Asn3335Lys) c.7755C>G (p.Asn2585Lys) n.1058-4387C>G (p.=) c.9564C>G (p.Asn3188Lys) c.10032C>G (p.Asn3344Lys) c.10056C>G (p.Asn3352Lys) c.10023C>G (p.Asn3341Lys) c.9996C>G (p.Asn3332Lys) | |
| 13 | g.23333871G>T | CA387513177 | SACS | c.10005C>A (p.Asn3335Lys) c.7755C>A (p.Asn2585Lys) n.1058-4387C>A (p.=) c.9564C>A (p.Asn3188Lys) c.10032C>A (p.Asn3344Lys) c.10056C>A (p.Asn3352Lys) c.10023C>A (p.Asn3341Lys) c.9996C>A (p.Asn3332Lys) | |
| 13 | g.23333872T>A | CA387513179 | SACS | c.10004A>T (p.Asn3335Ile) c.7754A>T (p.Asn2585Ile) n.1058-4388A>T (p.=) c.9563A>T (p.Asn3188Ile) c.10031A>T (p.Asn3344Ile) c.10055A>T (p.Asn3352Ile) c.10022A>T (p.Asn3341Ile) c.9995A>T (p.Asn3332Ile) | |
| 13 | g.23333872T>C | CA387513180 | SACS | c.10004A>G (p.Asn3335Ser) c.7754A>G (p.Asn2585Ser) n.1058-4388A>G (p.=) c.9563A>G (p.Asn3188Ser) c.10031A>G (p.Asn3344Ser) c.10055A>G (p.Asn3352Ser) c.10022A>G (p.Asn3341Ser) c.9995A>G (p.Asn3332Ser) |