| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37165595G>A | CA342796 | CPLANE1 | c.7477C>T (p.Arg2493Ter) n.597C>T c.4489C>T (p.Arg1497Ter) c.549C>T c.4621C>T (p.Arg1541Ter) c.7474C>T (p.Arg2492Ter) c.7348C>T (p.Arg2450Ter) c.4120C>T (p.Arg1374Ter) c.2050C>T (p.Arg684Ter) c.7159C>T (p.Arg2387Ter) c.6805C>T (p.Arg2269Ter) c.4702C>T (p.Arg1568Ter) n.7652C>T c.7288C>T (p.Arg2430Ter) c.6484C>T (p.Arg2162Ter) c.6289C>T (p.Arg2097Ter) n.7701C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37165595G>C | CA359476354 | CPLANE1 | c.7477C>G (p.Arg2493Gly) n.597C>G c.4489C>G (p.Arg1497Gly) c.549C>G c.4621C>G (p.Arg1541Gly) c.7474C>G (p.Arg2492Gly) c.7348C>G (p.Arg2450Gly) c.4120C>G (p.Arg1374Gly) c.2050C>G (p.Arg684Gly) c.7159C>G (p.Arg2387Gly) c.6805C>G (p.Arg2269Gly) c.4702C>G (p.Arg1568Gly) n.7652C>G c.7288C>G (p.Arg2430Gly) c.6484C>G (p.Arg2162Gly) c.6289C>G (p.Arg2097Gly) n.7701C>G | |
| 5 | g.37165595G= | CA1539664241 | CPLANE1 | c.7477C= (p.Arg2493=) n.597C= c.4489C= (p.Arg1497=) c.549C= c.4621C= (p.Arg1541=) c.7474C= (p.Arg2492=) c.7348C= (p.Arg2450=) c.4120C= (p.Arg1374=) c.2050C= (p.Arg684=) c.7159C= (p.Arg2387=) c.6805C= (p.Arg2269=) c.4702C= (p.Arg1568=) n.7652C= c.7288C= (p.Arg2430=) c.6484C= (p.Arg2162=) c.6289C= (p.Arg2097=) n.7701C= | |
| 5 | g.37165595G>T | CA443920189 | CPLANE1 | c.7477C>A (p.Arg2493=) n.597C>A c.4489C>A (p.Arg1497=) c.549C>A c.4621C>A (p.Arg1541=) c.7474C>A (p.Arg2492=) c.7348C>A (p.Arg2450=) c.4120C>A (p.Arg1374=) c.2050C>A (p.Arg684=) c.7159C>A (p.Arg2387=) c.6805C>A (p.Arg2269=) c.4702C>A (p.Arg1568=) n.7652C>A c.7288C>A (p.Arg2430=) c.6484C>A (p.Arg2162=) c.6289C>A (p.Arg2097=) n.7701C>A | |
| 5 | g.37165595_37165596delinsGA | CA1539664244 | CPLANE1 | c.7476_7477delinsTC (p.Phe2492=) n.596_597delinsTC c.4488_4489delinsTC (p.Phe1496=) c.548_549delinsTC c.4620_4621delinsTC (p.Phe1540=) c.7473_7474delinsTC (p.Phe2491=) c.7347_7348delinsTC (p.Phe2449=) c.4119_4120delinsTC (p.Phe1373=) c.2049_2050delinsTC (p.Phe683=) c.7158_7159delinsTC (p.Phe2386=) c.6804_6805delinsTC (p.Phe2268=) c.4701_4702delinsTC (p.Phe1567=) n.7651_7652delinsTC c.7287_7288delinsTC (p.Phe2429=) c.6483_6484delinsTC (p.Phe2161=) c.6288_6289delinsTC (p.Phe2096=) n.7700_7701delinsTC | |
| 5 | g.37165596A= | CA1539664248 | CPLANE1 | c.7476T= (p.Phe2492=) n.596T= c.4488T= (p.Phe1496=) c.548T= c.4620T= (p.Phe1540=) c.7473T= (p.Phe2491=) c.7347T= (p.Phe2449=) c.4119T= (p.Phe1373=) c.2049T= (p.Phe683=) c.7158T= (p.Phe2386=) c.6804T= (p.Phe2268=) c.4701T= (p.Phe1567=) n.7651T= c.7287T= (p.Phe2429=) c.6483T= (p.Phe2161=) c.6288T= (p.Phe2096=) n.7700T= | |
| 5 | g.37165596A>C | CA359476355 | CPLANE1 | c.7476T>G (p.Phe2492Leu) n.596T>G c.4488T>G (p.Phe1496Leu) c.548T>G c.4620T>G (p.Phe1540Leu) c.7473T>G (p.Phe2491Leu) c.7347T>G (p.Phe2449Leu) c.4119T>G (p.Phe1373Leu) c.2049T>G (p.Phe683Leu) c.7158T>G (p.Phe2386Leu) c.6804T>G (p.Phe2268Leu) c.4701T>G (p.Phe1567Leu) n.7651T>G c.7287T>G (p.Phe2429Leu) c.6483T>G (p.Phe2161Leu) c.6288T>G (p.Phe2096Leu) n.7700T>G | |
| 5 | g.37165596A>G | CA117051710 | CPLANE1 | c.7476T>C (p.Phe2492=) n.596T>C c.4488T>C (p.Phe1496=) c.548T>C c.4620T>C (p.Phe1540=) c.7473T>C (p.Phe2491=) c.7347T>C (p.Phe2449=) c.4119T>C (p.Phe1373=) c.2049T>C (p.Phe683=) c.7158T>C (p.Phe2386=) c.6804T>C (p.Phe2268=) c.4701T>C (p.Phe1567=) n.7651T>C c.7287T>C (p.Phe2429=) c.6483T>C (p.Phe2161=) c.6288T>C (p.Phe2096=) n.7700T>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37165596A>T | CA359476357 | CPLANE1 | c.7476T>A (p.Phe2492Leu) n.596T>A c.4488T>A (p.Phe1496Leu) c.548T>A c.4620T>A (p.Phe1540Leu) c.7473T>A (p.Phe2491Leu) c.7347T>A (p.Phe2449Leu) c.4119T>A (p.Phe1373Leu) c.2049T>A (p.Phe683Leu) c.7158T>A (p.Phe2386Leu) c.6804T>A (p.Phe2268Leu) c.4701T>A (p.Phe1567Leu) n.7651T>A c.7287T>A (p.Phe2429Leu) c.6483T>A (p.Phe2161Leu) c.6288T>A (p.Phe2096Leu) n.7700T>A | |
| 5 | g.37165599del | CA117051705 | CPLANE1 | c.7476del (p.Arg2493AspfsTer6) n.596del c.4488del (p.Arg1497AspfsTer6) c.548del c.4620del (p.Arg1541AspfsTer6) c.7473del (p.Arg2492AspfsTer6) c.7347del (p.Arg2450AspfsTer6) c.4119del (p.Arg1374AspfsTer6) c.2049del (p.Arg684AspfsTer6) c.7158del (p.Arg2387AspfsTer6) c.6804del (p.Arg2269AspfsTer6) c.4701del (p.Arg1568AspfsTer6) n.7651del c.7287del (p.Arg2430AspfsTer6) c.6483del (p.Arg2162AspfsTer6) c.6288del (p.Arg2097AspfsTer6) n.7700del | dbSNP gnomAD v4 |
| 5 | g.37165597A>C | CA359476360 | CPLANE1 | c.7475T>G (p.Phe2492Cys) n.595T>G c.4487T>G (p.Phe1496Cys) c.547T>G c.4619T>G (p.Phe1540Cys) c.7472T>G (p.Phe2491Cys) c.7346T>G (p.Phe2449Cys) c.4118T>G (p.Phe1373Cys) c.2048T>G (p.Phe683Cys) c.7157T>G (p.Phe2386Cys) c.6803T>G (p.Phe2268Cys) c.4700T>G (p.Phe1567Cys) n.7650T>G c.7286T>G (p.Phe2429Cys) c.6482T>G (p.Phe2161Cys) c.6287T>G (p.Phe2096Cys) n.7699T>G | gnomAD v4 |
| 5 | g.37165597A>G | CA359476361 | CPLANE1 | c.7475T>C (p.Phe2492Ser) n.595T>C c.4487T>C (p.Phe1496Ser) c.547T>C c.4619T>C (p.Phe1540Ser) c.7472T>C (p.Phe2491Ser) c.7346T>C (p.Phe2449Ser) c.4118T>C (p.Phe1373Ser) c.2048T>C (p.Phe683Ser) c.7157T>C (p.Phe2386Ser) c.6803T>C (p.Phe2268Ser) c.4700T>C (p.Phe1567Ser) n.7650T>C c.7286T>C (p.Phe2429Ser) c.6482T>C (p.Phe2161Ser) c.6287T>C (p.Phe2096Ser) n.7699T>C | |
| 5 | g.37165597A>T | CA359476363 | CPLANE1 | c.7475T>A (p.Phe2492Tyr) n.595T>A c.4487T>A (p.Phe1496Tyr) c.547T>A c.4619T>A (p.Phe1540Tyr) c.7472T>A (p.Phe2491Tyr) c.7346T>A (p.Phe2449Tyr) c.4118T>A (p.Phe1373Tyr) c.2048T>A (p.Phe683Tyr) c.7157T>A (p.Phe2386Tyr) c.6803T>A (p.Phe2268Tyr) c.4700T>A (p.Phe1567Tyr) n.7650T>A c.7286T>A (p.Phe2429Tyr) c.6482T>A (p.Phe2161Tyr) c.6287T>A (p.Phe2096Tyr) n.7699T>A | |
| 5 | g.37165598A>C | CA359476366 | CPLANE1 | c.7474T>G (p.Phe2492Val) n.594T>G c.4486T>G (p.Phe1496Val) c.546T>G c.4618T>G (p.Phe1540Val) c.7471T>G (p.Phe2491Val) c.7345T>G (p.Phe2449Val) c.4117T>G (p.Phe1373Val) c.2047T>G (p.Phe683Val) c.7156T>G (p.Phe2386Val) c.6802T>G (p.Phe2268Val) c.4699T>G (p.Phe1567Val) n.7649T>G c.7285T>G (p.Phe2429Val) c.6481T>G (p.Phe2161Val) c.6286T>G (p.Phe2096Val) n.7698T>G | |
| 5 | g.37165598A>G | CA359476367 | CPLANE1 | c.7474T>C (p.Phe2492Leu) n.594T>C c.4486T>C (p.Phe1496Leu) c.546T>C c.4618T>C (p.Phe1540Leu) c.7471T>C (p.Phe2491Leu) c.7345T>C (p.Phe2449Leu) c.4117T>C (p.Phe1373Leu) c.2047T>C (p.Phe683Leu) c.7156T>C (p.Phe2386Leu) c.6802T>C (p.Phe2268Leu) c.4699T>C (p.Phe1567Leu) n.7649T>C c.7285T>C (p.Phe2429Leu) c.6481T>C (p.Phe2161Leu) c.6286T>C (p.Phe2096Leu) n.7698T>C | |
| 5 | g.37165598A>T | CA359476364 | CPLANE1 | c.7474T>A (p.Phe2492Ile) n.594T>A c.4486T>A (p.Phe1496Ile) c.546T>A c.4618T>A (p.Phe1540Ile) c.7471T>A (p.Phe2491Ile) c.7345T>A (p.Phe2449Ile) c.4117T>A (p.Phe1373Ile) c.2047T>A (p.Phe683Ile) c.7156T>A (p.Phe2386Ile) c.6802T>A (p.Phe2268Ile) c.4699T>A (p.Phe1567Ile) n.7649T>A c.7285T>A (p.Phe2429Ile) c.6481T>A (p.Phe2161Ile) c.6286T>A (p.Phe2096Ile) n.7698T>A | |
| 5 | g.37165599A>C | CA443920190 | CPLANE1 | c.7473T>G (p.Thr2491=) n.593T>G c.4485T>G (p.Thr1495=) c.545T>G c.4617T>G (p.Thr1539=) c.7470T>G (p.Thr2490=) c.7344T>G (p.Thr2448=) c.4116T>G (p.Thr1372=) c.2046T>G (p.Thr682=) c.7155T>G (p.Thr2385=) c.6801T>G (p.Thr2267=) c.4698T>G (p.Thr1566=) n.7648T>G c.7284T>G (p.Thr2428=) c.6480T>G (p.Thr2160=) c.6285T>G (p.Thr2095=) n.7697T>G | |
| 5 | g.37165599A>G | CA443920191 | CPLANE1 | c.7473T>C (p.Thr2491=) n.593T>C c.4485T>C (p.Thr1495=) c.545T>C c.4617T>C (p.Thr1539=) c.7470T>C (p.Thr2490=) c.7344T>C (p.Thr2448=) c.4116T>C (p.Thr1372=) c.2046T>C (p.Thr682=) c.7155T>C (p.Thr2385=) c.6801T>C (p.Thr2267=) c.4698T>C (p.Thr1566=) n.7648T>C c.7284T>C (p.Thr2428=) c.6480T>C (p.Thr2160=) c.6285T>C (p.Thr2095=) n.7697T>C | |
| 5 | g.37165599A>T | CA443920192 | CPLANE1 | c.7473T>A (p.Thr2491=) n.593T>A c.4485T>A (p.Thr1495=) c.545T>A c.4617T>A (p.Thr1539=) c.7470T>A (p.Thr2490=) c.7344T>A (p.Thr2448=) c.4116T>A (p.Thr1372=) c.2046T>A (p.Thr682=) c.7155T>A (p.Thr2385=) c.6801T>A (p.Thr2267=) c.4698T>A (p.Thr1566=) n.7648T>A c.7284T>A (p.Thr2428=) c.6480T>A (p.Thr2160=) c.6285T>A (p.Thr2095=) n.7697T>A | |
| 5 | g.37165600G>A | CA359476371 | CPLANE1 | c.7472C>T (p.Thr2491Ile) n.592C>T c.4484C>T (p.Thr1495Ile) c.544C>T c.4616C>T (p.Thr1539Ile) c.7469C>T (p.Thr2490Ile) c.7343C>T (p.Thr2448Ile) c.4115C>T (p.Thr1372Ile) c.2045C>T (p.Thr682Ile) c.7154C>T (p.Thr2385Ile) c.6800C>T (p.Thr2267Ile) c.4697C>T (p.Thr1566Ile) n.7647C>T c.7283C>T (p.Thr2428Ile) c.6479C>T (p.Thr2160Ile) c.6284C>T (p.Thr2095Ile) n.7696C>T | |
| 5 | g.37165600G>C | CA359476369 | CPLANE1 | c.7472C>G (p.Thr2491Ser) n.592C>G c.4484C>G (p.Thr1495Ser) c.544C>G c.4616C>G (p.Thr1539Ser) c.7469C>G (p.Thr2490Ser) c.7343C>G (p.Thr2448Ser) c.4115C>G (p.Thr1372Ser) c.2045C>G (p.Thr682Ser) c.7154C>G (p.Thr2385Ser) c.6800C>G (p.Thr2267Ser) c.4697C>G (p.Thr1566Ser) n.7647C>G c.7283C>G (p.Thr2428Ser) c.6479C>G (p.Thr2160Ser) c.6284C>G (p.Thr2095Ser) n.7696C>G | |
| 5 | g.37165600G>T | CA359476373 | CPLANE1 | c.7472C>A (p.Thr2491Asn) n.592C>A c.4484C>A (p.Thr1495Asn) c.544C>A c.4616C>A (p.Thr1539Asn) c.7469C>A (p.Thr2490Asn) c.7343C>A (p.Thr2448Asn) c.4115C>A (p.Thr1372Asn) c.2045C>A (p.Thr682Asn) c.7154C>A (p.Thr2385Asn) c.6800C>A (p.Thr2267Asn) c.4697C>A (p.Thr1566Asn) n.7647C>A c.7283C>A (p.Thr2428Asn) c.6479C>A (p.Thr2160Asn) c.6284C>A (p.Thr2095Asn) n.7696C>A | gnomAD v4 |
| 5 | g.37165601T>A | CA359476374 | CPLANE1 | c.7471A>T (p.Thr2491Ser) n.591A>T c.4483A>T (p.Thr1495Ser) c.543A>T c.4615A>T (p.Thr1539Ser) c.7468A>T (p.Thr2490Ser) c.7342A>T (p.Thr2448Ser) c.4114A>T (p.Thr1372Ser) c.2044A>T (p.Thr682Ser) c.7153A>T (p.Thr2385Ser) c.6799A>T (p.Thr2267Ser) c.4696A>T (p.Thr1566Ser) n.7646A>T c.7282A>T (p.Thr2428Ser) c.6478A>T (p.Thr2160Ser) c.6283A>T (p.Thr2095Ser) n.7695A>T | |
| 5 | g.37165601T>C | CA359476376 | CPLANE1 | c.7471A>G (p.Thr2491Ala) n.591A>G c.4483A>G (p.Thr1495Ala) c.543A>G c.4615A>G (p.Thr1539Ala) c.7468A>G (p.Thr2490Ala) c.7342A>G (p.Thr2448Ala) c.4114A>G (p.Thr1372Ala) c.2044A>G (p.Thr682Ala) c.7153A>G (p.Thr2385Ala) c.6799A>G (p.Thr2267Ala) c.4696A>G (p.Thr1566Ala) n.7646A>G c.7282A>G (p.Thr2428Ala) c.6478A>G (p.Thr2160Ala) c.6283A>G (p.Thr2095Ala) n.7695A>G | gnomAD v4 |
| 5 | g.37165601T>G | CA359476377 | CPLANE1 | c.7471A>C (p.Thr2491Pro) n.591A>C c.4483A>C (p.Thr1495Pro) c.543A>C c.4615A>C (p.Thr1539Pro) c.7468A>C (p.Thr2490Pro) c.7342A>C (p.Thr2448Pro) c.4114A>C (p.Thr1372Pro) c.2044A>C (p.Thr682Pro) c.7153A>C (p.Thr2385Pro) c.6799A>C (p.Thr2267Pro) c.4696A>C (p.Thr1566Pro) n.7646A>C c.7282A>C (p.Thr2428Pro) c.6478A>C (p.Thr2160Pro) c.6283A>C (p.Thr2095Pro) n.7695A>C | |
| 5 | g.37165602C>A | CA443920193 | CPLANE1 | c.7470G>T (p.Val2490=) n.590G>T c.4482G>T (p.Val1494=) c.542G>T c.4614G>T (p.Val1538=) c.7467G>T (p.Val2489=) c.7341G>T (p.Val2447=) c.4113G>T (p.Val1371=) c.2043G>T (p.Val681=) c.7152G>T (p.Val2384=) c.6798G>T (p.Val2266=) c.4695G>T (p.Val1565=) n.7645G>T c.7281G>T (p.Val2427=) c.6477G>T (p.Val2159=) c.6282G>T (p.Val2094=) n.7694G>T | |
| 5 | g.37165602C>G | CA443920194 | CPLANE1 | c.7470G>C (p.Val2490=) n.590G>C c.4482G>C (p.Val1494=) c.542G>C c.4614G>C (p.Val1538=) c.7467G>C (p.Val2489=) c.7341G>C (p.Val2447=) c.4113G>C (p.Val1371=) c.2043G>C (p.Val681=) c.7152G>C (p.Val2384=) c.6798G>C (p.Val2266=) c.4695G>C (p.Val1565=) n.7645G>C c.7281G>C (p.Val2427=) c.6477G>C (p.Val2159=) c.6282G>C (p.Val2094=) n.7694G>C | |
| 5 | g.37165602C>T | CA443920195 | CPLANE1 | c.7470G>A (p.Val2490=) n.590G>A c.4482G>A (p.Val1494=) c.542G>A c.4614G>A (p.Val1538=) c.7467G>A (p.Val2489=) c.7341G>A (p.Val2447=) c.4113G>A (p.Val1371=) c.2043G>A (p.Val681=) c.7152G>A (p.Val2384=) c.6798G>A (p.Val2266=) c.4695G>A (p.Val1565=) n.7645G>A c.7281G>A (p.Val2427=) c.6477G>A (p.Val2159=) c.6282G>A (p.Val2094=) n.7694G>A | |
| 5 | g.37165603A>C | CA359476379 | CPLANE1 | c.7469T>G (p.Val2490Gly) n.589T>G c.4481T>G (p.Val1494Gly) c.541T>G c.4613T>G (p.Val1538Gly) c.7466T>G (p.Val2489Gly) c.7340T>G (p.Val2447Gly) c.4112T>G (p.Val1371Gly) c.2042T>G (p.Val681Gly) c.7151T>G (p.Val2384Gly) c.6797T>G (p.Val2266Gly) c.4694T>G (p.Val1565Gly) n.7644T>G c.7280T>G (p.Val2427Gly) c.6476T>G (p.Val2159Gly) c.6281T>G (p.Val2094Gly) n.7693T>G | |
| 5 | g.37165603A>G | CA359476381 | CPLANE1 | c.7469T>C (p.Val2490Ala) n.589T>C c.4481T>C (p.Val1494Ala) c.541T>C c.4613T>C (p.Val1538Ala) c.7466T>C (p.Val2489Ala) c.7340T>C (p.Val2447Ala) c.4112T>C (p.Val1371Ala) c.2042T>C (p.Val681Ala) c.7151T>C (p.Val2384Ala) c.6797T>C (p.Val2266Ala) c.4694T>C (p.Val1565Ala) n.7644T>C c.7280T>C (p.Val2427Ala) c.6476T>C (p.Val2159Ala) c.6281T>C (p.Val2094Ala) n.7693T>C | |
| 5 | g.37165603A>T | CA359476382 | CPLANE1 | c.7469T>A (p.Val2490Glu) n.589T>A c.4481T>A (p.Val1494Glu) c.541T>A c.4613T>A (p.Val1538Glu) c.7466T>A (p.Val2489Glu) c.7340T>A (p.Val2447Glu) c.4112T>A (p.Val1371Glu) c.2042T>A (p.Val681Glu) c.7151T>A (p.Val2384Glu) c.6797T>A (p.Val2266Glu) c.4694T>A (p.Val1565Glu) n.7644T>A c.7280T>A (p.Val2427Glu) c.6476T>A (p.Val2159Glu) c.6281T>A (p.Val2094Glu) n.7693T>A | |
| 5 | g.37165604C>A | CA359476384 | CPLANE1 | c.7468G>T (p.Val2490Leu) n.588G>T c.4480G>T (p.Val1494Leu) c.540G>T c.4612G>T (p.Val1538Leu) c.7465G>T (p.Val2489Leu) c.7339G>T (p.Val2447Leu) c.4111G>T (p.Val1371Leu) c.2041G>T (p.Val681Leu) c.7150G>T (p.Val2384Leu) c.6796G>T (p.Val2266Leu) c.4693G>T (p.Val1565Leu) n.7643G>T c.7279G>T (p.Val2427Leu) c.6475G>T (p.Val2159Leu) c.6280G>T (p.Val2094Leu) n.7692G>T | |
| 5 | g.37165604C>G | CA359476386 | CPLANE1 | c.7468G>C (p.Val2490Leu) n.588G>C c.4480G>C (p.Val1494Leu) c.540G>C c.4612G>C (p.Val1538Leu) c.7465G>C (p.Val2489Leu) c.7339G>C (p.Val2447Leu) c.4111G>C (p.Val1371Leu) c.2041G>C (p.Val681Leu) c.7150G>C (p.Val2384Leu) c.6796G>C (p.Val2266Leu) c.4693G>C (p.Val1565Leu) n.7643G>C c.7279G>C (p.Val2427Leu) c.6475G>C (p.Val2159Leu) c.6280G>C (p.Val2094Leu) n.7692G>C | |
| 5 | g.37165604C>T | CA359476387 | CPLANE1 | c.7468G>A (p.Val2490Met) n.588G>A c.4480G>A (p.Val1494Met) c.540G>A c.4612G>A (p.Val1538Met) c.7465G>A (p.Val2489Met) c.7339G>A (p.Val2447Met) c.4111G>A (p.Val1371Met) c.2041G>A (p.Val681Met) c.7150G>A (p.Val2384Met) c.6796G>A (p.Val2266Met) c.4693G>A (p.Val1565Met) n.7643G>A c.7279G>A (p.Val2427Met) c.6475G>A (p.Val2159Met) c.6280G>A (p.Val2094Met) n.7692G>A | |
| 5 | g.37165605A= | CA1539664251 | CPLANE1 | c.7467T= (p.Asn2489=) n.587T= c.4479T= (p.Asn1493=) c.539T= c.4611T= (p.Asn1537=) c.7464T= (p.Asn2488=) c.7338T= (p.Asn2446=) c.4110T= (p.Asn1370=) c.2040T= (p.Asn680=) c.7149T= (p.Asn2383=) c.6795T= (p.Asn2265=) c.4692T= (p.Asn1564=) n.7642T= c.7278T= (p.Asn2426=) c.6474T= (p.Asn2158=) c.6279T= (p.Asn2093=) n.7691T= | |
| 5 | g.37165605A>C | CA117051731 | CPLANE1 | c.7467T>G (p.Asn2489Lys) n.587T>G c.4479T>G (p.Asn1493Lys) c.539T>G c.4611T>G (p.Asn1537Lys) c.7464T>G (p.Asn2488Lys) c.7338T>G (p.Asn2446Lys) c.4110T>G (p.Asn1370Lys) c.2040T>G (p.Asn680Lys) c.7149T>G (p.Asn2383Lys) c.6795T>G (p.Asn2265Lys) c.4692T>G (p.Asn1564Lys) n.7642T>G c.7278T>G (p.Asn2426Lys) c.6474T>G (p.Asn2158Lys) c.6279T>G (p.Asn2093Lys) n.7691T>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37165605A>G | CA443920196 | CPLANE1 | c.7467T>C (p.Asn2489=) n.587T>C c.4479T>C (p.Asn1493=) c.539T>C c.4611T>C (p.Asn1537=) c.7464T>C (p.Asn2488=) c.7338T>C (p.Asn2446=) c.4110T>C (p.Asn1370=) c.2040T>C (p.Asn680=) c.7149T>C (p.Asn2383=) c.6795T>C (p.Asn2265=) c.4692T>C (p.Asn1564=) n.7642T>C c.7278T>C (p.Asn2426=) c.6474T>C (p.Asn2158=) c.6279T>C (p.Asn2093=) n.7691T>C | |
| 5 | g.37165605A>T | CA359476389 | CPLANE1 | c.7467T>A (p.Asn2489Lys) n.587T>A c.4479T>A (p.Asn1493Lys) c.539T>A c.4611T>A (p.Asn1537Lys) c.7464T>A (p.Asn2488Lys) c.7338T>A (p.Asn2446Lys) c.4110T>A (p.Asn1370Lys) c.2040T>A (p.Asn680Lys) c.7149T>A (p.Asn2383Lys) c.6795T>A (p.Asn2265Lys) c.4692T>A (p.Asn1564Lys) n.7642T>A c.7278T>A (p.Asn2426Lys) c.6474T>A (p.Asn2158Lys) c.6279T>A (p.Asn2093Lys) n.7691T>A | |
| 5 | g.37165606T>A | CA359476394 | CPLANE1 | c.7466A>T (p.Asn2489Ile) n.586A>T c.4478A>T (p.Asn1493Ile) c.538A>T c.4610A>T (p.Asn1537Ile) c.7463A>T (p.Asn2488Ile) c.7337A>T (p.Asn2446Ile) c.4109A>T (p.Asn1370Ile) c.2039A>T (p.Asn680Ile) c.7148A>T (p.Asn2383Ile) c.6794A>T (p.Asn2265Ile) c.4691A>T (p.Asn1564Ile) n.7641A>T c.7277A>T (p.Asn2426Ile) c.6473A>T (p.Asn2158Ile) c.6278A>T (p.Asn2093Ile) n.7690A>T | |
| 5 | g.37165606T>C | CA359476391 | CPLANE1 | c.7466A>G (p.Asn2489Ser) n.586A>G c.4478A>G (p.Asn1493Ser) c.538A>G c.4610A>G (p.Asn1537Ser) c.7463A>G (p.Asn2488Ser) c.7337A>G (p.Asn2446Ser) c.4109A>G (p.Asn1370Ser) c.2039A>G (p.Asn680Ser) c.7148A>G (p.Asn2383Ser) c.6794A>G (p.Asn2265Ser) c.4691A>G (p.Asn1564Ser) n.7641A>G c.7277A>G (p.Asn2426Ser) c.6473A>G (p.Asn2158Ser) c.6278A>G (p.Asn2093Ser) n.7690A>G | |
| 5 | g.37165606T>G | CA359476393 | CPLANE1 | c.7466A>C (p.Asn2489Thr) n.586A>C c.4478A>C (p.Asn1493Thr) c.538A>C c.4610A>C (p.Asn1537Thr) c.7463A>C (p.Asn2488Thr) c.7337A>C (p.Asn2446Thr) c.4109A>C (p.Asn1370Thr) c.2039A>C (p.Asn680Thr) c.7148A>C (p.Asn2383Thr) c.6794A>C (p.Asn2265Thr) c.4691A>C (p.Asn1564Thr) n.7641A>C c.7277A>C (p.Asn2426Thr) c.6473A>C (p.Asn2158Thr) c.6278A>C (p.Asn2093Thr) n.7690A>C | |
| 5 | g.37165608del | CA2573139639 | CPLANE1 | c.7466del (p.Asn2489MetfsTer2) n.586del c.4478del (p.Asn1493MetfsTer2) c.538del c.4610del (p.Asn1537MetfsTer2) c.7463del (p.Asn2488MetfsTer2) c.7337del (p.Asn2446MetfsTer2) c.4109del (p.Asn1370MetfsTer2) c.2039del (p.Asn680MetfsTer2) c.7148del (p.Asn2383MetfsTer2) c.6794del (p.Asn2265MetfsTer2) c.4691del (p.Asn1564MetfsTer2) n.7641del c.7277del (p.Asn2426MetfsTer2) c.6473del (p.Asn2158MetfsTer2) c.6278del (p.Asn2093MetfsTer2) n.7690del | ClinVar dbSNP |
| 5 | g.37165607T>A | CA359476396 | CPLANE1 | c.7465A>T (p.Asn2489Tyr) n.585A>T c.4477A>T (p.Asn1493Tyr) c.537A>T c.4609A>T (p.Asn1537Tyr) c.7462A>T (p.Asn2488Tyr) c.7336A>T (p.Asn2446Tyr) c.4108A>T (p.Asn1370Tyr) c.2038A>T (p.Asn680Tyr) c.7147A>T (p.Asn2383Tyr) c.6793A>T (p.Asn2265Tyr) c.4690A>T (p.Asn1564Tyr) n.7640A>T c.7276A>T (p.Asn2426Tyr) c.6472A>T (p.Asn2158Tyr) c.6277A>T (p.Asn2093Tyr) n.7689A>T | |
| 5 | g.37165607T>C | CA359476397 | CPLANE1 | c.7465A>G (p.Asn2489Asp) n.585A>G c.4477A>G (p.Asn1493Asp) c.537A>G c.4609A>G (p.Asn1537Asp) c.7462A>G (p.Asn2488Asp) c.7336A>G (p.Asn2446Asp) c.4108A>G (p.Asn1370Asp) c.2038A>G (p.Asn680Asp) c.7147A>G (p.Asn2383Asp) c.6793A>G (p.Asn2265Asp) c.4690A>G (p.Asn1564Asp) n.7640A>G c.7276A>G (p.Asn2426Asp) c.6472A>G (p.Asn2158Asp) c.6277A>G (p.Asn2093Asp) n.7689A>G | |
| 5 | g.37165607T>G | CA359476399 | CPLANE1 | c.7465A>C (p.Asn2489His) n.585A>C c.4477A>C (p.Asn1493His) c.537A>C c.4609A>C (p.Asn1537His) c.7462A>C (p.Asn2488His) c.7336A>C (p.Asn2446His) c.4108A>C (p.Asn1370His) c.2038A>C (p.Asn680His) c.7147A>C (p.Asn2383His) c.6793A>C (p.Asn2265His) c.4690A>C (p.Asn1564His) n.7640A>C c.7276A>C (p.Asn2426His) c.6472A>C (p.Asn2158His) c.6277A>C (p.Asn2093His) n.7689A>C | |
| 5 | g.37165608T>A | CA443920197 | CPLANE1 | c.7464A>T (p.Pro2488=) n.584A>T c.4476A>T (p.Pro1492=) c.536A>T c.4608A>T (p.Pro1536=) c.7461A>T (p.Pro2487=) c.7335A>T (p.Pro2445=) c.4107A>T (p.Pro1369=) c.2037A>T (p.Pro679=) c.7146A>T (p.Pro2382=) c.6792A>T (p.Pro2264=) c.4689A>T (p.Pro1563=) n.7639A>T c.7275A>T (p.Pro2425=) c.6471A>T (p.Pro2157=) c.6276A>T (p.Pro2092=) n.7688A>T | |
| 5 | g.37165608T>C | CA443920198 | CPLANE1 | c.7464A>G (p.Pro2488=) n.584A>G c.4476A>G (p.Pro1492=) c.536A>G c.4608A>G (p.Pro1536=) c.7461A>G (p.Pro2487=) c.7335A>G (p.Pro2445=) c.4107A>G (p.Pro1369=) c.2037A>G (p.Pro679=) c.7146A>G (p.Pro2382=) c.6792A>G (p.Pro2264=) c.4689A>G (p.Pro1563=) n.7639A>G c.7275A>G (p.Pro2425=) c.6471A>G (p.Pro2157=) c.6276A>G (p.Pro2092=) n.7688A>G | gnomAD v4 |
| 5 | g.37165608T>G | CA443920199 | CPLANE1 | c.7464A>C (p.Pro2488=) n.584A>C c.4476A>C (p.Pro1492=) c.536A>C c.4608A>C (p.Pro1536=) c.7461A>C (p.Pro2487=) c.7335A>C (p.Pro2445=) c.4107A>C (p.Pro1369=) c.2037A>C (p.Pro679=) c.7146A>C (p.Pro2382=) c.6792A>C (p.Pro2264=) c.4689A>C (p.Pro1563=) n.7639A>C c.7275A>C (p.Pro2425=) c.6471A>C (p.Pro2157=) c.6276A>C (p.Pro2092=) n.7688A>C | |
| 5 | g.37165609G>A | CA359476401 | CPLANE1 | c.7463C>T (p.Pro2488Leu) n.583C>T c.4475C>T (p.Pro1492Leu) c.535C>T c.4607C>T (p.Pro1536Leu) c.7460C>T (p.Pro2487Leu) c.7334C>T (p.Pro2445Leu) c.4106C>T (p.Pro1369Leu) c.2036C>T (p.Pro679Leu) c.7145C>T (p.Pro2382Leu) c.6791C>T (p.Pro2264Leu) c.4688C>T (p.Pro1563Leu) n.7638C>T c.7274C>T (p.Pro2425Leu) c.6470C>T (p.Pro2157Leu) c.6275C>T (p.Pro2092Leu) n.7687C>T | COSMIC COSMIC |
| 5 | g.37165609G>C | CA359476402 | CPLANE1 | c.7463C>G (p.Pro2488Arg) n.583C>G c.4475C>G (p.Pro1492Arg) c.535C>G c.4607C>G (p.Pro1536Arg) c.7460C>G (p.Pro2487Arg) c.7334C>G (p.Pro2445Arg) c.4106C>G (p.Pro1369Arg) c.2036C>G (p.Pro679Arg) c.7145C>G (p.Pro2382Arg) c.6791C>G (p.Pro2264Arg) c.4688C>G (p.Pro1563Arg) n.7638C>G c.7274C>G (p.Pro2425Arg) c.6470C>G (p.Pro2157Arg) c.6275C>G (p.Pro2092Arg) n.7687C>G |