| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.5562913del | CA658821382 | EVC2 | c.3863del (p.Pro1288LeufsTer9) c.3623del (p.Pro1208LeufsTer9) c.3419+2346del (n.3419+2346del) c.*2256del (n.*2256del) c.3872del (p.Pro1291LeufsTer9) c.3668+2346del (n.3668+2346del) c.3632del (p.Pro1211LeufsTer9) c.2183del (p.Pro728LeufsTer9) n.3713del | ClinVar dbSNP |
| 4 | g.5562913G>A | CA356146350 | EVC2 | c.3862C>T (p.Pro1288Ser) c.3622C>T (p.Pro1208Ser) c.3419+2345C>T (n.3419+2345C>T) c.*2255C>T (n.*2255C>T) c.3871C>T (p.Pro1291Ser) c.3668+2345C>T (n.3668+2345C>T) c.3631C>T (p.Pro1211Ser) c.2182C>T (p.Pro728Ser) n.3712C>T | dbSNP |
| 4 | g.5562913G>C | CA356146351 | EVC2 | c.3862C>G (p.Pro1288Ala) c.3622C>G (p.Pro1208Ala) c.3419+2345C>G (n.3419+2345C>G) c.*2255C>G (n.*2255C>G) c.3871C>G (p.Pro1291Ala) c.3668+2345C>G (n.3668+2345C>G) c.3631C>G (p.Pro1211Ala) c.2182C>G (p.Pro728Ala) n.3712C>G | |
| 4 | g.5562913G= | CA1435390840 | EVC2 | c.3862C= (p.Pro1288=) c.3622C= (p.Pro1208=) c.3419+2345C= (n.3419+2345C=) c.*2255C= (n.*2255C=) c.3871C= (p.Pro1291=) c.3668+2345C= (n.3668+2345C=) c.3631C= (p.Pro1211=) c.2182C= (p.Pro728=) n.3712C= | |
| 4 | g.5562913G>T | CA356146352 | EVC2 | c.3862C>A (p.Pro1288Thr) c.3622C>A (p.Pro1208Thr) c.3419+2345C>A (n.3419+2345C>A) c.*2255C>A (n.*2255C>A) c.3871C>A (p.Pro1291Thr) c.3668+2345C>A (n.3668+2345C>A) c.3631C>A (p.Pro1211Thr) c.2182C>A (p.Pro728Thr) n.3712C>A | |
| 4 | g.5562914A>C | CA438203010 | EVC2 | c.3861T>G (p.Val1287=) c.3621T>G (p.Val1207=) c.3419+2344T>G (n.3419+2344T>G) c.*2254T>G (n.*2254T>G) c.3870T>G (p.Val1290=) c.3668+2344T>G (n.3668+2344T>G) c.3630T>G (p.Val1210=) c.2181T>G (p.Val727=) n.3711T>G | |
| 4 | g.5562914A>G | CA438203011 | EVC2 | c.3861T>C (p.Val1287=) c.3621T>C (p.Val1207=) c.3419+2344T>C (n.3419+2344T>C) c.*2254T>C (n.*2254T>C) c.3870T>C (p.Val1290=) c.3668+2344T>C (n.3668+2344T>C) c.3630T>C (p.Val1210=) c.2181T>C (p.Val727=) n.3711T>C | |
| 4 | g.5562914A>T | CA438203012 | EVC2 | c.3861T>A (p.Val1287=) c.3621T>A (p.Val1207=) c.3419+2344T>A (n.3419+2344T>A) c.*2254T>A (n.*2254T>A) c.3870T>A (p.Val1290=) c.3668+2344T>A (n.3668+2344T>A) c.3630T>A (p.Val1210=) c.2181T>A (p.Val727=) n.3711T>A | |
| 4 | g.5562915A>C | CA356146353 | EVC2 | c.3860T>G (p.Val1287Gly) c.3620T>G (p.Val1207Gly) c.3419+2343T>G (n.3419+2343T>G) c.*2253T>G (n.*2253T>G) c.3869T>G (p.Val1290Gly) c.3668+2343T>G (n.3668+2343T>G) c.3629T>G (p.Val1210Gly) c.2180T>G (p.Val727Gly) n.3710T>G | |
| 4 | g.5562915A>G | CA356146354 | EVC2 | c.3860T>C (p.Val1287Ala) c.3620T>C (p.Val1207Ala) c.3419+2343T>C (n.3419+2343T>C) c.*2253T>C (n.*2253T>C) c.3869T>C (p.Val1290Ala) c.3668+2343T>C (n.3668+2343T>C) c.3629T>C (p.Val1210Ala) c.2180T>C (p.Val727Ala) n.3710T>C | |
| 4 | g.5562915A>T | CA356146355 | EVC2 | c.3860T>A (p.Val1287Asp) c.3620T>A (p.Val1207Asp) c.3419+2343T>A (n.3419+2343T>A) c.*2253T>A (n.*2253T>A) c.3869T>A (p.Val1290Asp) c.3668+2343T>A (n.3668+2343T>A) c.3629T>A (p.Val1210Asp) c.2180T>A (p.Val727Asp) n.3710T>A | |
| 4 | g.5562916C>A | CA91686590 | EVC2 | c.3859G>T (p.Val1287Phe) c.3619G>T (p.Val1207Phe) c.3419+2342G>T (n.3419+2342G>T) c.*2252G>T (n.*2252G>T) c.3868G>T (p.Val1290Phe) c.3668+2342G>T (n.3668+2342G>T) c.3628G>T (p.Val1210Phe) c.2179G>T (p.Val727Phe) n.3709G>T | dbSNP gnomAD v4 |
| 4 | g.5562916C= | CA1435390841 | EVC2 | c.3859G= (p.Val1287=) c.3619G= (p.Val1207=) c.3419+2342G= (n.3419+2342G=) c.*2252G= (n.*2252G=) c.3868G= (p.Val1290=) c.3668+2342G= (n.3668+2342G=) c.3628G= (p.Val1210=) c.2179G= (p.Val727=) n.3709G= | |
| 4 | g.5562916C>G | CA356146356 | EVC2 | c.3859G>C (p.Val1287Leu) c.3619G>C (p.Val1207Leu) c.3419+2342G>C (n.3419+2342G>C) c.*2252G>C (n.*2252G>C) c.3868G>C (p.Val1290Leu) c.3668+2342G>C (n.3668+2342G>C) c.3628G>C (p.Val1210Leu) c.2179G>C (p.Val727Leu) n.3709G>C | |
| 4 | g.5562916C>T | CA2834168 | EVC2 | c.3859G>A (p.Val1287Ile) c.3619G>A (p.Val1207Ile) c.3419+2342G>A (n.3419+2342G>A) c.*2252G>A (n.*2252G>A) c.3868G>A (p.Val1290Ile) c.3668+2342G>A (n.3668+2342G>A) c.3628G>A (p.Val1210Ile) c.2179G>A (p.Val727Ile) n.3709G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5562917G>A | CA2834169 | EVC2 | c.3858C>T (p.His1286=) c.3618C>T (p.His1206=) c.3419+2341C>T (n.3419+2341C>T) c.*2251C>T (n.*2251C>T) c.3867C>T (p.His1289=) c.3668+2341C>T (n.3668+2341C>T) c.3627C>T (p.His1209=) c.2178C>T (p.His726=) n.3708C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5562917G>C | CA356146358 | EVC2 | c.3858C>G (p.His1286Gln) c.3618C>G (p.His1206Gln) c.3419+2341C>G (n.3419+2341C>G) c.*2251C>G (n.*2251C>G) c.3867C>G (p.His1289Gln) c.3668+2341C>G (n.3668+2341C>G) c.3627C>G (p.His1209Gln) c.2178C>G (p.His726Gln) n.3708C>G | |
| 4 | g.5562917G= | CA1435390842 | EVC2 | c.3858C= (p.His1286=) c.3618C= (p.His1206=) c.3419+2341C= (n.3419+2341C=) c.*2251C= (n.*2251C=) c.3867C= (p.His1289=) c.3668+2341C= (n.3668+2341C=) c.3627C= (p.His1209=) c.2178C= (p.His726=) n.3708C= | |
| 4 | g.5562917G>T | CA356146357 | EVC2 | c.3858C>A (p.His1286Gln) c.3618C>A (p.His1206Gln) c.3419+2341C>A (n.3419+2341C>A) c.*2251C>A (n.*2251C>A) c.3867C>A (p.His1289Gln) c.3668+2341C>A (n.3668+2341C>A) c.3627C>A (p.His1209Gln) c.2178C>A (p.His726Gln) n.3708C>A | |
| 4 | g.5562918T>A | CA356146359 | EVC2 | c.3857A>T (p.His1286Leu) c.3617A>T (p.His1206Leu) c.3419+2340A>T (n.3419+2340A>T) c.*2250A>T (n.*2250A>T) c.3866A>T (p.His1289Leu) c.3668+2340A>T (n.3668+2340A>T) c.3626A>T (p.His1209Leu) c.2177A>T (p.His726Leu) n.3707A>T | |
| 4 | g.5562918T>C | CA356146360 | EVC2 | c.3857A>G (p.His1286Arg) c.3617A>G (p.His1206Arg) c.3419+2340A>G (n.3419+2340A>G) c.*2250A>G (n.*2250A>G) c.3866A>G (p.His1289Arg) c.3668+2340A>G (n.3668+2340A>G) c.3626A>G (p.His1209Arg) c.2177A>G (p.His726Arg) n.3707A>G | gnomAD v4 |
| 4 | g.5562918T>G | CA356146361 | EVC2 | c.3857A>C (p.His1286Pro) c.3617A>C (p.His1206Pro) c.3419+2340A>C (n.3419+2340A>C) c.*2250A>C (n.*2250A>C) c.3866A>C (p.His1289Pro) c.3668+2340A>C (n.3668+2340A>C) c.3626A>C (p.His1209Pro) c.2177A>C (p.His726Pro) n.3707A>C | |
| 4 | g.5562919G>A | CA356146362 | EVC2 | c.3856C>T (p.His1286Tyr) c.3616C>T (p.His1206Tyr) c.3419+2339C>T (n.3419+2339C>T) c.*2249C>T (n.*2249C>T) c.3865C>T (p.His1289Tyr) c.3668+2339C>T (n.3668+2339C>T) c.3625C>T (p.His1209Tyr) c.2176C>T (p.His726Tyr) n.3706C>T | gnomAD v4 |
| 4 | g.5562919G>C | CA356146363 | EVC2 | c.3856C>G (p.His1286Asp) c.3616C>G (p.His1206Asp) c.3419+2339C>G (n.3419+2339C>G) c.*2249C>G (n.*2249C>G) c.3865C>G (p.His1289Asp) c.3668+2339C>G (n.3668+2339C>G) c.3625C>G (p.His1209Asp) c.2176C>G (p.His726Asp) n.3706C>G | |
| 4 | g.5562919G= | CA1435390843 | EVC2 | c.3856C= (p.His1286=) c.3616C= (p.His1206=) c.3419+2339C= (n.3419+2339C=) c.*2249C= (n.*2249C=) c.3865C= (p.His1289=) c.3668+2339C= (n.3668+2339C=) c.3625C= (p.His1209=) c.2176C= (p.His726=) n.3706C= | |
| 4 | g.5562919G>T | CA356146364 | EVC2 | c.3856C>A (p.His1286Asn) c.3616C>A (p.His1206Asn) c.3419+2339C>A (n.3419+2339C>A) c.*2249C>A (n.*2249C>A) c.3865C>A (p.His1289Asn) c.3668+2339C>A (n.3668+2339C>A) c.3625C>A (p.His1209Asn) c.2176C>A (p.His726Asn) n.3706C>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5562920C>A | CA438203013 | EVC2 | c.3855G>T (p.Leu1285=) c.3615G>T (p.Leu1205=) c.3419+2338G>T (n.3419+2338G>T) c.*2248G>T (n.*2248G>T) c.3864G>T (p.Leu1288=) c.3668+2338G>T (n.3668+2338G>T) c.3624G>T (p.Leu1208=) c.2175G>T (p.Leu725=) n.3705G>T | dbSNP gnomAD v4 |
| 4 | g.5562920C= | CA1435390844 | EVC2 | c.3855G= (p.Leu1285=) c.3615G= (p.Leu1205=) c.3419+2338G= (n.3419+2338G=) c.*2248G= (n.*2248G=) c.3864G= (p.Leu1288=) c.3668+2338G= (n.3668+2338G=) c.3624G= (p.Leu1208=) c.2175G= (p.Leu725=) n.3705G= | |
| 4 | g.5562920C>G | CA438203014 | EVC2 | c.3855G>C (p.Leu1285=) c.3615G>C (p.Leu1205=) c.3419+2338G>C (n.3419+2338G>C) c.*2248G>C (n.*2248G>C) c.3864G>C (p.Leu1288=) c.3668+2338G>C (n.3668+2338G>C) c.3624G>C (p.Leu1208=) c.2175G>C (p.Leu725=) n.3705G>C | |
| 4 | g.5562920C>T | CA438203015 | EVC2 | c.3855G>A (p.Leu1285=) c.3615G>A (p.Leu1205=) c.3419+2338G>A (n.3419+2338G>A) c.*2248G>A (n.*2248G>A) c.3864G>A (p.Leu1288=) c.3668+2338G>A (n.3668+2338G>A) c.3624G>A (p.Leu1208=) c.2175G>A (p.Leu725=) n.3705G>A | ClinVar dbSNP |
| 4 | g.5562921A= | CA1435390845 | EVC2 | c.3854T= (p.Leu1285=) c.3614T= (p.Leu1205=) c.3419+2337T= (n.3419+2337T=) c.*2247T= (n.*2247T=) c.3863T= (p.Leu1288=) c.3668+2337T= (n.3668+2337T=) c.3623T= (p.Leu1208=) c.2174T= (p.Leu725=) n.3704T= | |
| 4 | g.5562921A>C | CA356146365 | EVC2 | c.3854T>G (p.Leu1285Arg) c.3614T>G (p.Leu1205Arg) c.3419+2337T>G (n.3419+2337T>G) c.*2247T>G (n.*2247T>G) c.3863T>G (p.Leu1288Arg) c.3668+2337T>G (n.3668+2337T>G) c.3623T>G (p.Leu1208Arg) c.2174T>G (p.Leu725Arg) n.3704T>G | |
| 4 | g.5562921A>G | CA2834170 | EVC2 | c.3854T>C (p.Leu1285Pro) c.3614T>C (p.Leu1205Pro) c.3419+2337T>C (n.3419+2337T>C) c.*2247T>C (n.*2247T>C) c.3863T>C (p.Leu1288Pro) c.3668+2337T>C (n.3668+2337T>C) c.3623T>C (p.Leu1208Pro) c.2174T>C (p.Leu725Pro) n.3704T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5562921A>T | CA356146366 | EVC2 | c.3854T>A (p.Leu1285Gln) c.3614T>A (p.Leu1205Gln) c.3419+2337T>A (n.3419+2337T>A) c.*2247T>A (n.*2247T>A) c.3863T>A (p.Leu1288Gln) c.3668+2337T>A (n.3668+2337T>A) c.3623T>A (p.Leu1208Gln) c.2174T>A (p.Leu725Gln) n.3704T>A | |
| 4 | g.5562922G>A | CA438203016 | EVC2 | c.3853C>T (p.Leu1285=) c.3613C>T (p.Leu1205=) c.3419+2336C>T (n.3419+2336C>T) c.*2246C>T (n.*2246C>T) c.3862C>T (p.Leu1288=) c.3668+2336C>T (n.3668+2336C>T) c.3622C>T (p.Leu1208=) c.2173C>T (p.Leu725=) n.3703C>T | ClinVar dbSNP gnomAD v4 |
| 4 | g.5562922G>C | CA356146367 | EVC2 | c.3853C>G (p.Leu1285Val) c.3613C>G (p.Leu1205Val) c.3419+2336C>G (n.3419+2336C>G) c.*2246C>G (n.*2246C>G) c.3862C>G (p.Leu1288Val) c.3668+2336C>G (n.3668+2336C>G) c.3622C>G (p.Leu1208Val) c.2173C>G (p.Leu725Val) n.3703C>G | gnomAD v4 |
| 4 | g.5562922G>T | CA356146368 | EVC2 | c.3853C>A (p.Leu1285Met) c.3613C>A (p.Leu1205Met) c.3419+2336C>A (n.3419+2336C>A) c.*2246C>A (n.*2246C>A) c.3862C>A (p.Leu1288Met) c.3668+2336C>A (n.3668+2336C>A) c.3622C>A (p.Leu1208Met) c.2173C>A (p.Leu725Met) n.3703C>A | |
| 4 | g.5562923T>A | CA438203017 | EVC2 | c.3852A>T (p.Ser1284=) c.3612A>T (p.Ser1204=) c.3419+2335A>T (n.3419+2335A>T) c.*2245A>T (n.*2245A>T) c.3861A>T (p.Ser1287=) c.3668+2335A>T (n.3668+2335A>T) c.3621A>T (p.Ser1207=) c.2172A>T (p.Ser724=) n.3702A>T | |
| 4 | g.5562923T>C | CA438203018 | EVC2 | c.3852A>G (p.Ser1284=) c.3612A>G (p.Ser1204=) c.3419+2335A>G (n.3419+2335A>G) c.*2245A>G (n.*2245A>G) c.3861A>G (p.Ser1287=) c.3668+2335A>G (n.3668+2335A>G) c.3621A>G (p.Ser1207=) c.2172A>G (p.Ser724=) n.3702A>G | |
| 4 | g.5562923T>G | CA438203019 | EVC2 | c.3852A>C (p.Ser1284=) c.3612A>C (p.Ser1204=) c.3419+2335A>C (n.3419+2335A>C) c.*2245A>C (n.*2245A>C) c.3861A>C (p.Ser1287=) c.3668+2335A>C (n.3668+2335A>C) c.3621A>C (p.Ser1207=) c.2172A>C (p.Ser724=) n.3702A>C | gnomAD v4 |
| 4 | g.5562924G>A | CA356146369 | EVC2 | c.3851C>T (p.Ser1284Leu) c.3611C>T (p.Ser1204Leu) c.3419+2334C>T (n.3419+2334C>T) c.*2244C>T (n.*2244C>T) c.3860C>T (p.Ser1287Leu) c.3668+2334C>T (n.3668+2334C>T) c.3620C>T (p.Ser1207Leu) c.2171C>T (p.Ser724Leu) n.3701C>T | |
| 4 | g.5562924G>C | CA356146370 | EVC2 | c.3851C>G (p.Ser1284Ter) c.3611C>G (p.Ser1204Ter) c.3419+2334C>G (n.3419+2334C>G) c.*2244C>G (n.*2244C>G) c.3860C>G (p.Ser1287Ter) c.3668+2334C>G (n.3668+2334C>G) c.3620C>G (p.Ser1207Ter) c.2171C>G (p.Ser724Ter) n.3701C>G | |
| 4 | g.5562924G>T | CA356146371 | EVC2 | c.3851C>A (p.Ser1284Ter) c.3611C>A (p.Ser1204Ter) c.3419+2334C>A (n.3419+2334C>A) c.*2244C>A (n.*2244C>A) c.3860C>A (p.Ser1287Ter) c.3668+2334C>A (n.3668+2334C>A) c.3620C>A (p.Ser1207Ter) c.2171C>A (p.Ser724Ter) n.3701C>A | |
| 4 | g.5562925A>C | CA356146373 | EVC2 | c.3850T>G (p.Ser1284Ala) c.3610T>G (p.Ser1204Ala) c.3419+2333T>G (n.3419+2333T>G) c.*2243T>G (n.*2243T>G) c.3859T>G (p.Ser1287Ala) c.3668+2333T>G (n.3668+2333T>G) c.3619T>G (p.Ser1207Ala) c.2170T>G (p.Ser724Ala) n.3700T>G | COSMIC |
| 4 | g.5562925A>G | CA356146374 | EVC2 | c.3850T>C (p.Ser1284Pro) c.3610T>C (p.Ser1204Pro) c.3419+2333T>C (n.3419+2333T>C) c.*2243T>C (n.*2243T>C) c.3859T>C (p.Ser1287Pro) c.3668+2333T>C (n.3668+2333T>C) c.3619T>C (p.Ser1207Pro) c.2170T>C (p.Ser724Pro) n.3700T>C | |
| 4 | g.5562925A>T | CA356146372 | EVC2 | c.3850T>A (p.Ser1284Thr) c.3610T>A (p.Ser1204Thr) c.3419+2333T>A (n.3419+2333T>A) c.*2243T>A (n.*2243T>A) c.3859T>A (p.Ser1287Thr) c.3668+2333T>A (n.3668+2333T>A) c.3619T>A (p.Ser1207Thr) c.2170T>A (p.Ser724Thr) n.3700T>A | |
| 4 | g.5562926G>A | CA2834171 | EVC2 | c.3849C>T (p.Ile1283=) c.3609C>T (p.Ile1203=) c.3419+2332C>T (n.3419+2332C>T) c.*2242C>T (n.*2242C>T) c.3858C>T (p.Ile1286=) c.3668+2332C>T (n.3668+2332C>T) c.3618C>T (p.Ile1206=) c.2169C>T (p.Ile723=) n.3699C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5562926G>C | CA356146375 | EVC2 | c.3849C>G (p.Ile1283Met) c.3609C>G (p.Ile1203Met) c.3419+2332C>G (n.3419+2332C>G) c.*2242C>G (n.*2242C>G) c.3858C>G (p.Ile1286Met) c.3668+2332C>G (n.3668+2332C>G) c.3618C>G (p.Ile1206Met) c.2169C>G (p.Ile723Met) n.3699C>G | |
| 4 | g.5562926G= | CA1435390846 | EVC2 | c.3849C= (p.Ile1283=) c.3609C= (p.Ile1203=) c.3419+2332C= (n.3419+2332C=) c.*2242C= (n.*2242C=) c.3858C= (p.Ile1286=) c.3668+2332C= (n.3668+2332C=) c.3618C= (p.Ile1206=) c.2169C= (p.Ile723=) n.3699C= | |
| 4 | g.5562926G>T | CA438203020 | EVC2 | c.3849C>A (p.Ile1283=) c.3609C>A (p.Ile1203=) c.3419+2332C>A (n.3419+2332C>A) c.*2242C>A (n.*2242C>A) c.3858C>A (p.Ile1286=) c.3668+2332C>A (n.3668+2332C>A) c.3618C>A (p.Ile1206=) c.2169C>A (p.Ile723=) n.3699C>A | ClinVar dbSNP |