| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.10345893G>A | CA338342405 | KIF1B | c.3800G>A (p.Ser1267Asn) c.3662G>A (p.Ser1221Asn) c.3737G>A (p.Ser1246Asn) c.3599G>A (p.Ser1200Asn) n.192G>A n.273G>A c.3695G>A (p.Ser1232Asn) c.3659G>A (p.Ser1220Asn) | gnomAD v4 COSMIC |
| 1 | g.10345893G>C | CA338342408 | KIF1B | c.3800G>C (p.Ser1267Thr) c.3662G>C (p.Ser1221Thr) c.3737G>C (p.Ser1246Thr) c.3599G>C (p.Ser1200Thr) n.192G>C n.273G>C c.3695G>C (p.Ser1232Thr) c.3659G>C (p.Ser1220Thr) | |
| 1 | g.10345893G>T | CA338342410 | KIF1B | c.3800G>T (p.Ser1267Ile) c.3662G>T (p.Ser1221Ile) c.3737G>T (p.Ser1246Ile) c.3599G>T (p.Ser1200Ile) n.192G>T n.273G>T c.3695G>T (p.Ser1232Ile) c.3659G>T (p.Ser1220Ile) | |
| 1 | g.10345894C>A | CA338342412 | KIF1B | c.3801C>A (p.Ser1267Arg) c.3663C>A (p.Ser1221Arg) c.3738C>A (p.Ser1246Arg) c.3600C>A (p.Ser1200Arg) n.193C>A n.274C>A c.3696C>A (p.Ser1232Arg) c.3660C>A (p.Ser1220Arg) | |
| 1 | g.10345894C>G | CA338342414 | KIF1B | c.3801C>G (p.Ser1267Arg) c.3663C>G (p.Ser1221Arg) c.3738C>G (p.Ser1246Arg) c.3600C>G (p.Ser1200Arg) n.193C>G n.274C>G c.3696C>G (p.Ser1232Arg) c.3660C>G (p.Ser1220Arg) | |
| 1 | g.10345894C>T | CA415884454 | KIF1B | c.3801C>T (p.Ser1267=) c.3663C>T (p.Ser1221=) c.3738C>T (p.Ser1246=) c.3600C>T (p.Ser1200=) n.193C>T n.274C>T c.3696C>T (p.Ser1232=) c.3660C>T (p.Ser1220=) | |
| 1 | g.10345895A= | CA1153146199 | KIF1B | c.3802A= (p.Met1268=) c.3664A= (p.Met1222=) c.3739A= (p.Met1247=) c.3601A= (p.Met1201=) n.194A= n.275A= c.3697A= (p.Met1233=) c.3661A= (p.Met1221=) | |
| 1 | g.10345895A>C | CA338342416 | KIF1B | c.3802A>C (p.Met1268Leu) c.3664A>C (p.Met1222Leu) c.3739A>C (p.Met1247Leu) c.3601A>C (p.Met1201Leu) n.194A>C n.275A>C c.3697A>C (p.Met1233Leu) c.3661A>C (p.Met1221Leu) | |
| 1 | g.10345895A>G | CA338342422 | KIF1B | c.3802A>G (p.Met1268Val) c.3664A>G (p.Met1222Val) c.3739A>G (p.Met1247Val) c.3601A>G (p.Met1201Val) n.194A>G n.275A>G c.3697A>G (p.Met1233Val) c.3661A>G (p.Met1221Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10345895A>T | CA338342423 | KIF1B | c.3802A>T (p.Met1268Leu) c.3664A>T (p.Met1222Leu) c.3739A>T (p.Met1247Leu) c.3601A>T (p.Met1201Leu) n.194A>T n.275A>T c.3697A>T (p.Met1233Leu) c.3661A>T (p.Met1221Leu) | |
| 1 | g.10345896T>A | CA338342425 | KIF1B | c.3803T>A (p.Met1268Lys) c.3665T>A (p.Met1222Lys) c.3740T>A (p.Met1247Lys) c.3602T>A (p.Met1201Lys) n.195T>A n.276T>A c.3698T>A (p.Met1233Lys) c.3662T>A (p.Met1221Lys) | |
| 1 | g.10345896T>C | CA338342427 | KIF1B | c.3803T>C (p.Met1268Thr) c.3665T>C (p.Met1222Thr) c.3740T>C (p.Met1247Thr) c.3602T>C (p.Met1201Thr) n.195T>C n.276T>C c.3698T>C (p.Met1233Thr) c.3662T>C (p.Met1221Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10345896T>G | CA338342428 | KIF1B | c.3803T>G (p.Met1268Arg) c.3665T>G (p.Met1222Arg) c.3740T>G (p.Met1247Arg) c.3602T>G (p.Met1201Arg) n.195T>G n.276T>G c.3698T>G (p.Met1233Arg) c.3662T>G (p.Met1221Arg) | |
| 1 | g.10345896T= | CA1153146200 | KIF1B | c.3803T= (p.Met1268=) c.3665T= (p.Met1222=) c.3740T= (p.Met1247=) c.3602T= (p.Met1201=) n.195T= n.276T= c.3698T= (p.Met1233=) c.3662T= (p.Met1221=) | |
| 1 | g.10345897G>A | CA338342433 | KIF1B | c.3804G>A (p.Met1268Ile) c.3666G>A (p.Met1222Ile) c.3741G>A (p.Met1247Ile) c.3603G>A (p.Met1201Ile) n.196G>A n.277G>A c.3699G>A (p.Met1233Ile) c.3663G>A (p.Met1221Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10345897G>C | CA338342430 | KIF1B | c.3804G>C (p.Met1268Ile) c.3666G>C (p.Met1222Ile) c.3741G>C (p.Met1247Ile) c.3603G>C (p.Met1201Ile) n.196G>C n.277G>C c.3699G>C (p.Met1233Ile) c.3663G>C (p.Met1221Ile) | |
| 1 | g.10345897G= | CA1153146201 | KIF1B | c.3804G= (p.Met1268=) c.3666G= (p.Met1222=) c.3741G= (p.Met1247=) c.3603G= (p.Met1201=) n.196G= n.277G= c.3699G= (p.Met1233=) c.3663G= (p.Met1221=) | |
| 1 | g.10345897G>T | CA338342431 | KIF1B | c.3804G>T (p.Met1268Ile) c.3666G>T (p.Met1222Ile) c.3741G>T (p.Met1247Ile) c.3603G>T (p.Met1201Ile) n.196G>T n.277G>T c.3699G>T (p.Met1233Ile) c.3663G>T (p.Met1221Ile) | gnomAD v4 |
| 1 | g.10345898A= | CA1153146202 | KIF1B | c.3805A= (p.Ser1269=) c.3667A= (p.Ser1223=) c.3742A= (p.Ser1248=) c.3604A= (p.Ser1202=) n.197A= n.278A= c.3700A= (p.Ser1234=) c.3664A= (p.Ser1222=) | |
| 1 | g.10345898A>C | CA338342434 | KIF1B | c.3805A>C (p.Ser1269Arg) c.3667A>C (p.Ser1223Arg) c.3742A>C (p.Ser1248Arg) c.3604A>C (p.Ser1202Arg) n.197A>C n.278A>C c.3700A>C (p.Ser1234Arg) c.3664A>C (p.Ser1222Arg) | |
| 1 | g.10345898A>G | CA338342435 | KIF1B | c.3805A>G (p.Ser1269Gly) c.3667A>G (p.Ser1223Gly) c.3742A>G (p.Ser1248Gly) c.3604A>G (p.Ser1202Gly) n.197A>G n.278A>G c.3700A>G (p.Ser1234Gly) c.3664A>G (p.Ser1222Gly) | ClinVar dbSNP gnomAD v2 |
| 1 | g.10345898A>T | CA338342436 | KIF1B | c.3805A>T (p.Ser1269Cys) c.3667A>T (p.Ser1223Cys) c.3742A>T (p.Ser1248Cys) c.3604A>T (p.Ser1202Cys) n.197A>T n.278A>T c.3700A>T (p.Ser1234Cys) c.3664A>T (p.Ser1222Cys) | |
| 1 | g.10345899G>A | CA338342438 | KIF1B | c.3806G>A (p.Ser1269Asn) c.3668G>A (p.Ser1223Asn) c.3743G>A (p.Ser1248Asn) c.3605G>A (p.Ser1202Asn) n.198G>A n.279G>A c.3701G>A (p.Ser1234Asn) c.3665G>A (p.Ser1222Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10345899G>C | CA338342440 | KIF1B | c.3806G>C (p.Ser1269Thr) c.3668G>C (p.Ser1223Thr) c.3743G>C (p.Ser1248Thr) c.3605G>C (p.Ser1202Thr) n.198G>C n.279G>C c.3701G>C (p.Ser1234Thr) c.3665G>C (p.Ser1222Thr) | |
| 1 | g.10345899G= | CA1153146203 | KIF1B | c.3806G= (p.Ser1269=) c.3668G= (p.Ser1223=) c.3743G= (p.Ser1248=) c.3605G= (p.Ser1202=) n.198G= n.279G= c.3701G= (p.Ser1234=) c.3665G= (p.Ser1222=) | |
| 1 | g.10345899G>T | CA338342441 | KIF1B | c.3806G>T (p.Ser1269Ile) c.3668G>T (p.Ser1223Ile) c.3743G>T (p.Ser1248Ile) c.3605G>T (p.Ser1202Ile) n.198G>T n.279G>T c.3701G>T (p.Ser1234Ile) c.3665G>T (p.Ser1222Ile) | |
| 1 | g.10345900C>A | CA338342443 | KIF1B | c.3807C>A (p.Ser1269Arg) c.3669C>A (p.Ser1223Arg) c.3744C>A (p.Ser1248Arg) c.3606C>A (p.Ser1202Arg) n.199C>A n.280C>A c.3702C>A (p.Ser1234Arg) c.3666C>A (p.Ser1222Arg) | |
| 1 | g.10345900C>G | CA338342444 | KIF1B | c.3807C>G (p.Ser1269Arg) c.3669C>G (p.Ser1223Arg) c.3744C>G (p.Ser1248Arg) c.3606C>G (p.Ser1202Arg) n.199C>G n.280C>G c.3702C>G (p.Ser1234Arg) c.3666C>G (p.Ser1222Arg) | |
| 1 | g.10345900C>T | CA415884455 | KIF1B | c.3807C>T (p.Ser1269=) c.3669C>T (p.Ser1223=) c.3744C>T (p.Ser1248=) c.3606C>T (p.Ser1202=) n.199C>T n.280C>T c.3702C>T (p.Ser1234=) c.3666C>T (p.Ser1222=) | |
| 1 | g.10345901A= | CA1153146204 | KIF1B | c.3808A= (p.Lys1270=) c.3670A= (p.Lys1224=) c.3745A= (p.Lys1249=) c.3607A= (p.Lys1203=) n.200A= n.281A= c.3703A= (p.Lys1235=) c.3667A= (p.Lys1223=) | |
| 1 | g.10345901A>C | CA338342445 | KIF1B | c.3808A>C (p.Lys1270Gln) c.3670A>C (p.Lys1224Gln) c.3745A>C (p.Lys1249Gln) c.3607A>C (p.Lys1203Gln) n.200A>C n.281A>C c.3703A>C (p.Lys1235Gln) c.3667A>C (p.Lys1223Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10345901A>G | CA338342447 | KIF1B | c.3808A>G (p.Lys1270Glu) c.3670A>G (p.Lys1224Glu) c.3745A>G (p.Lys1249Glu) c.3607A>G (p.Lys1203Glu) n.200A>G n.281A>G c.3703A>G (p.Lys1235Glu) c.3667A>G (p.Lys1223Glu) | |
| 1 | g.10345901A>T | CA338342449 | KIF1B | c.3808A>T (p.Lys1270Ter) c.3670A>T (p.Lys1224Ter) c.3745A>T (p.Lys1249Ter) c.3607A>T (p.Lys1203Ter) n.200A>T n.281A>T c.3703A>T (p.Lys1235Ter) c.3667A>T (p.Lys1223Ter) | |
| 1 | g.10345902A= | CA1153146205 | KIF1B | c.3809A= (p.Lys1270=) c.3671A= (p.Lys1224=) c.3746A= (p.Lys1249=) c.3608A= (p.Lys1203=) n.201A= n.282A= c.3704A= (p.Lys1235=) c.3668A= (p.Lys1223=) | |
| 1 | g.10345902A>C | CA338342456 | KIF1B | c.3809A>C (p.Lys1270Thr) c.3671A>C (p.Lys1224Thr) c.3746A>C (p.Lys1249Thr) c.3608A>C (p.Lys1203Thr) n.201A>C n.282A>C c.3704A>C (p.Lys1235Thr) c.3668A>C (p.Lys1223Thr) | gnomAD v4 COSMIC |
| 1 | g.10345902A>G | CA338342457 | KIF1B | c.3809A>G (p.Lys1270Arg) c.3671A>G (p.Lys1224Arg) c.3746A>G (p.Lys1249Arg) c.3608A>G (p.Lys1203Arg) n.201A>G n.282A>G c.3704A>G (p.Lys1235Arg) c.3668A>G (p.Lys1223Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10345902A>T | CA338342455 | KIF1B | c.3809A>T (p.Lys1270Met) c.3671A>T (p.Lys1224Met) c.3746A>T (p.Lys1249Met) c.3608A>T (p.Lys1203Met) n.201A>T n.282A>T c.3704A>T (p.Lys1235Met) c.3668A>T (p.Lys1223Met) | |
| 1 | g.10345903G>A | CA415884456 | KIF1B | c.3810G>A (p.Lys1270=) c.3672G>A (p.Lys1224=) c.3747G>A (p.Lys1249=) c.3609G>A (p.Lys1203=) n.202G>A n.283G>A c.3705G>A (p.Lys1235=) c.3669G>A (p.Lys1223=) | ClinVar |
| 1 | g.10345903G>C | CA338342459 | KIF1B | c.3810G>C (p.Lys1270Asn) c.3672G>C (p.Lys1224Asn) c.3747G>C (p.Lys1249Asn) c.3609G>C (p.Lys1203Asn) n.202G>C n.283G>C c.3705G>C (p.Lys1235Asn) c.3669G>C (p.Lys1223Asn) | |
| 1 | g.10345903G>T | CA338342461 | KIF1B | c.3810G>T (p.Lys1270Asn) c.3672G>T (p.Lys1224Asn) c.3747G>T (p.Lys1249Asn) c.3609G>T (p.Lys1203Asn) n.202G>T n.283G>T c.3705G>T (p.Lys1235Asn) c.3669G>T (p.Lys1223Asn) | |
| 1 | g.10345904T>A | CA338342463 | KIF1B | c.3811T>A (p.Tyr1271Asn) c.3673T>A (p.Tyr1225Asn) c.3748T>A (p.Tyr1250Asn) c.3610T>A (p.Tyr1204Asn) n.203T>A n.284T>A c.3706T>A (p.Tyr1236Asn) c.3670T>A (p.Tyr1224Asn) | |
| 1 | g.10345904T>C | CA338342465 | KIF1B | c.3811T>C (p.Tyr1271His) c.3673T>C (p.Tyr1225His) c.3748T>C (p.Tyr1250His) c.3610T>C (p.Tyr1204His) n.203T>C n.284T>C c.3706T>C (p.Tyr1236His) c.3670T>C (p.Tyr1224His) | |
| 1 | g.10345904T>G | CA338342467 | KIF1B | c.3811T>G (p.Tyr1271Asp) c.3673T>G (p.Tyr1225Asp) c.3748T>G (p.Tyr1250Asp) c.3610T>G (p.Tyr1204Asp) n.203T>G n.284T>G c.3706T>G (p.Tyr1236Asp) c.3670T>G (p.Tyr1224Asp) | |
| 1 | g.10345905A>C | CA338342468 | KIF1B | c.3812A>C (p.Tyr1271Ser) c.3674A>C (p.Tyr1225Ser) c.3749A>C (p.Tyr1250Ser) c.3611A>C (p.Tyr1204Ser) n.204A>C n.285A>C c.3707A>C (p.Tyr1236Ser) c.3671A>C (p.Tyr1224Ser) | |
| 1 | g.10345905A>G | CA338342471 | KIF1B | c.3812A>G (p.Tyr1271Cys) c.3674A>G (p.Tyr1225Cys) c.3749A>G (p.Tyr1250Cys) c.3611A>G (p.Tyr1204Cys) n.204A>G n.285A>G c.3707A>G (p.Tyr1236Cys) c.3671A>G (p.Tyr1224Cys) | ClinVar gnomAD v4 |
| 1 | g.10345905A>T | CA338342473 | KIF1B | c.3812A>T (p.Tyr1271Phe) c.3674A>T (p.Tyr1225Phe) c.3749A>T (p.Tyr1250Phe) c.3611A>T (p.Tyr1204Phe) n.204A>T n.285A>T c.3707A>T (p.Tyr1236Phe) c.3671A>T (p.Tyr1224Phe) | |
| 1 | g.10345906T>A | CA338342474 | KIF1B | c.3813T>A (p.Tyr1271Ter) c.3675T>A (p.Tyr1225Ter) c.3750T>A (p.Tyr1250Ter) c.3612T>A (p.Tyr1204Ter) n.205T>A n.286T>A c.3708T>A (p.Tyr1236Ter) c.3672T>A (p.Tyr1224Ter) | |
| 1 | g.10345906T>C | CA415884457 | KIF1B | c.3813T>C (p.Tyr1271=) c.3675T>C (p.Tyr1225=) c.3750T>C (p.Tyr1250=) c.3612T>C (p.Tyr1204=) n.205T>C n.286T>C c.3708T>C (p.Tyr1236=) c.3672T>C (p.Tyr1224=) | |
| 1 | g.10345906T>G | CA338342475 | KIF1B | c.3813T>G (p.Tyr1271Ter) c.3675T>G (p.Tyr1225Ter) c.3750T>G (p.Tyr1250Ter) c.3612T>G (p.Tyr1204Ter) n.205T>G n.286T>G c.3708T>G (p.Tyr1236Ter) c.3672T>G (p.Tyr1224Ter) | |
| 1 | g.10345907G>A | CA338342477 | KIF1B | c.3814G>A (p.Asp1272Asn) c.3676G>A (p.Asp1226Asn) c.3751G>A (p.Asp1251Asn) c.3613G>A (p.Asp1205Asn) n.206G>A n.287G>A c.3709G>A (p.Asp1237Asn) c.3673G>A (p.Asp1225Asn) | gnomAD v4 |
| 1 | g.10345907G>C | CA338342478 | KIF1B | c.3814G>C (p.Asp1272His) c.3676G>C (p.Asp1226His) c.3751G>C (p.Asp1251His) c.3613G>C (p.Asp1205His) n.206G>C n.287G>C c.3709G>C (p.Asp1237His) c.3673G>C (p.Asp1225His) | |
| 1 | g.10345907G>T | CA338342480 | KIF1B | c.3814G>T (p.Asp1272Tyr) c.3676G>T (p.Asp1226Tyr) c.3751G>T (p.Asp1251Tyr) c.3613G>T (p.Asp1205Tyr) n.206G>T n.287G>T c.3709G>T (p.Asp1237Tyr) c.3673G>T (p.Asp1225Tyr) | gnomAD v4 |
| 1 | g.10345908A>C | CA338342484 | KIF1B | c.3815A>C (p.Asp1272Ala) c.3677A>C (p.Asp1226Ala) c.3752A>C (p.Asp1251Ala) c.3614A>C (p.Asp1205Ala) n.207A>C n.288A>C c.3710A>C (p.Asp1237Ala) c.3674A>C (p.Asp1225Ala) | |
| 1 | g.10345908A>G | CA338342483 | KIF1B | c.3815A>G (p.Asp1272Gly) c.3677A>G (p.Asp1226Gly) c.3752A>G (p.Asp1251Gly) c.3614A>G (p.Asp1205Gly) n.207A>G n.288A>G c.3710A>G (p.Asp1237Gly) c.3674A>G (p.Asp1225Gly) | |
| 1 | g.10345908A>T | CA338342482 | KIF1B | c.3815A>T (p.Asp1272Val) c.3677A>T (p.Asp1226Val) c.3752A>T (p.Asp1251Val) c.3614A>T (p.Asp1205Val) n.207A>T n.288A>T c.3710A>T (p.Asp1237Val) c.3674A>T (p.Asp1225Val) | |
| 1 | g.10345909C>A | CA338342486 | KIF1B | c.3816C>A (p.Asp1272Glu) c.3678C>A (p.Asp1226Glu) c.3753C>A (p.Asp1251Glu) c.3615C>A (p.Asp1205Glu) n.208C>A n.289C>A c.3711C>A (p.Asp1237Glu) c.3675C>A (p.Asp1225Glu) | |
| 1 | g.10345909C>G | CA338342488 | KIF1B | c.3816C>G (p.Asp1272Glu) c.3678C>G (p.Asp1226Glu) c.3753C>G (p.Asp1251Glu) c.3615C>G (p.Asp1205Glu) n.208C>G n.289C>G c.3711C>G (p.Asp1237Glu) c.3675C>G (p.Asp1225Glu) | gnomAD v4 |
| 1 | g.10345909C>T | CA415884458 | KIF1B | c.3816C>T (p.Asp1272=) c.3678C>T (p.Asp1226=) c.3753C>T (p.Asp1251=) c.3615C>T (p.Asp1205=) n.208C>T n.289C>T c.3711C>T (p.Asp1237=) c.3675C>T (p.Asp1225=) | |
| 1 | g.10345912_10345914del | CA2643183531 | KIF1B | c.3819_3821del (p.Leu1274del) c.3681_3683del (p.Leu1228del) c.3756_3758del (p.Leu1253del) c.3618_3620del (p.Leu1207del) n.211_213del n.292_294del c.3714_3716del (p.Leu1239del) c.3678_3680del (p.Leu1227del) | gnomAD v4 |
| 1 | g.10345910C>A | CA338342490 | KIF1B | c.3817C>A (p.Leu1273Ile) c.3679C>A (p.Leu1227Ile) c.3754C>A (p.Leu1252Ile) c.3616C>A (p.Leu1206Ile) n.209C>A n.290C>A c.3712C>A (p.Leu1238Ile) c.3676C>A (p.Leu1226Ile) | |
| 1 | g.10345910C= | CA1143650354 | KIF1B | c.3817C= (p.Leu1273=) c.3679C= (p.Leu1227=) c.3754C= (p.Leu1252=) c.3616C= (p.Leu1206=) n.209C= n.290C= c.3712C= (p.Leu1238=) c.3676C= (p.Leu1226=) | |
| 1 | g.10345910C>G | CA338342491 | KIF1B | c.3817C>G (p.Leu1273Val) c.3679C>G (p.Leu1227Val) c.3754C>G (p.Leu1252Val) c.3616C>G (p.Leu1206Val) n.209C>G n.290C>G c.3712C>G (p.Leu1238Val) c.3676C>G (p.Leu1226Val) | gnomAD v4 |
| 1 | g.10345910C>T | CA581865 | KIF1B | c.3817C>T (p.Leu1273Phe) c.3679C>T (p.Leu1227Phe) c.3754C>T (p.Leu1252Phe) c.3616C>T (p.Leu1206Phe) n.209C>T n.290C>T c.3712C>T (p.Leu1238Phe) c.3676C>T (p.Leu1226Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10345911T>A | CA338342494 | KIF1B | c.3818T>A (p.Leu1273His) c.3680T>A (p.Leu1227His) c.3755T>A (p.Leu1252His) c.3617T>A (p.Leu1206His) n.210T>A n.291T>A c.3713T>A (p.Leu1238His) c.3677T>A (p.Leu1226His) | ClinVar dbSNP |
| 1 | g.10345911T>C | CA338342496 | KIF1B | c.3818T>C (p.Leu1273Pro) c.3680T>C (p.Leu1227Pro) c.3755T>C (p.Leu1252Pro) c.3617T>C (p.Leu1206Pro) n.210T>C n.291T>C c.3713T>C (p.Leu1238Pro) c.3677T>C (p.Leu1226Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10345911T>G | CA338342497 | KIF1B | c.3818T>G (p.Leu1273Arg) c.3680T>G (p.Leu1227Arg) c.3755T>G (p.Leu1252Arg) c.3617T>G (p.Leu1206Arg) n.210T>G n.291T>G c.3713T>G (p.Leu1238Arg) c.3677T>G (p.Leu1226Arg) | |
| 1 | g.10345911T= | CA1153146206 | KIF1B | c.3818T= (p.Leu1273=) c.3680T= (p.Leu1227=) c.3755T= (p.Leu1252=) c.3617T= (p.Leu1206=) n.210T= n.291T= c.3713T= (p.Leu1238=) c.3677T= (p.Leu1226=) | |
| 1 | g.10345912C>A | CA415884459 | KIF1B | c.3819C>A (p.Leu1273=) c.3681C>A (p.Leu1227=) c.3756C>A (p.Leu1252=) c.3618C>A (p.Leu1206=) n.211C>A n.292C>A c.3714C>A (p.Leu1238=) c.3678C>A (p.Leu1226=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.10345912C= | CA1153146207 | KIF1B | c.3819C= (p.Leu1273=) c.3681C= (p.Leu1227=) c.3756C= (p.Leu1252=) c.3618C= (p.Leu1206=) n.211C= n.292C= c.3714C= (p.Leu1238=) c.3678C= (p.Leu1226=) | |
| 1 | g.10345912C>G | CA415884460 | KIF1B | c.3819C>G (p.Leu1273=) c.3681C>G (p.Leu1227=) c.3756C>G (p.Leu1252=) c.3618C>G (p.Leu1206=) n.211C>G n.292C>G c.3714C>G (p.Leu1238=) c.3678C>G (p.Leu1226=) | |
| 1 | g.10345912C>T | CA415884461 | KIF1B | c.3819C>T (p.Leu1273=) c.3681C>T (p.Leu1227=) c.3756C>T (p.Leu1252=) c.3618C>T (p.Leu1206=) n.211C>T n.292C>T c.3714C>T (p.Leu1238=) c.3678C>T (p.Leu1226=) | COSMIC |
| 1 | g.10345913C>A | CA338342499 | KIF1B | c.3820C>A (p.Leu1274Met) c.3682C>A (p.Leu1228Met) c.3757C>A (p.Leu1253Met) c.3619C>A (p.Leu1207Met) n.212C>A n.293C>A c.3715C>A (p.Leu1239Met) c.3679C>A (p.Leu1227Met) | |
| 1 | g.10345913C= | CA1153146208 | KIF1B | c.3820C= (p.Leu1274=) c.3682C= (p.Leu1228=) c.3757C= (p.Leu1253=) c.3619C= (p.Leu1207=) n.212C= n.293C= c.3715C= (p.Leu1239=) c.3679C= (p.Leu1227=) | |
| 1 | g.10345913C>G | CA338342500 | KIF1B | c.3820C>G (p.Leu1274Val) c.3682C>G (p.Leu1228Val) c.3757C>G (p.Leu1253Val) c.3619C>G (p.Leu1207Val) n.212C>G n.293C>G c.3715C>G (p.Leu1239Val) c.3679C>G (p.Leu1227Val) | gnomAD v4 |
| 1 | g.10345913C>T | CA415884462 | KIF1B | c.3820C>T (p.Leu1274=) c.3682C>T (p.Leu1228=) c.3757C>T (p.Leu1253=) c.3619C>T (p.Leu1207=) n.212C>T n.293C>T c.3715C>T (p.Leu1239=) c.3679C>T (p.Leu1227=) | dbSNP gnomAD v4 |
| 1 | g.10345914T>A | CA338342502 | KIF1B | c.3821T>A (p.Leu1274Gln) c.3683T>A (p.Leu1228Gln) c.3758T>A (p.Leu1253Gln) c.3620T>A (p.Leu1207Gln) n.213T>A n.294T>A c.3716T>A (p.Leu1239Gln) c.3680T>A (p.Leu1227Gln) | |
| 1 | g.10345914T>C | CA338342504 | KIF1B | c.3821T>C (p.Leu1274Pro) c.3683T>C (p.Leu1228Pro) c.3758T>C (p.Leu1253Pro) c.3620T>C (p.Leu1207Pro) n.213T>C n.294T>C c.3716T>C (p.Leu1239Pro) c.3680T>C (p.Leu1227Pro) | |
| 1 | g.10345914T>G | CA338342506 | KIF1B | c.3821T>G (p.Leu1274Arg) c.3683T>G (p.Leu1228Arg) c.3758T>G (p.Leu1253Arg) c.3620T>G (p.Leu1207Arg) n.213T>G n.294T>G c.3716T>G (p.Leu1239Arg) c.3680T>G (p.Leu1227Arg) | |
| 1 | g.10345915G>A | CA415884463 | KIF1B | c.3822G>A (p.Leu1274=) c.3684G>A (p.Leu1228=) c.3759G>A (p.Leu1253=) c.3621G>A (p.Leu1207=) n.214G>A n.295G>A c.3717G>A (p.Leu1239=) c.3681G>A (p.Leu1227=) | |
| 1 | g.10345915G>C | CA415884464 | KIF1B | c.3822G>C (p.Leu1274=) c.3684G>C (p.Leu1228=) c.3759G>C (p.Leu1253=) c.3621G>C (p.Leu1207=) n.214G>C n.295G>C c.3717G>C (p.Leu1239=) c.3681G>C (p.Leu1227=) | |
| 1 | g.10345915G>T | CA415884465 | KIF1B | c.3822G>T (p.Leu1274=) c.3684G>T (p.Leu1228=) c.3759G>T (p.Leu1253=) c.3621G>T (p.Leu1207=) n.214G>T n.295G>T c.3717G>T (p.Leu1239=) c.3681G>T (p.Leu1227=) | |
| 1 | g.10345916G>A | CA338342511 | KIF1B | c.3823G>A (p.Val1275Ile) c.3685G>A (p.Val1229Ile) c.3760G>A (p.Val1254Ile) c.3622G>A (p.Val1208Ile) n.215G>A n.296G>A c.3718G>A (p.Val1240Ile) c.3682G>A (p.Val1228Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10345916G>C | CA338342510 | KIF1B | c.3823G>C (p.Val1275Leu) c.3685G>C (p.Val1229Leu) c.3760G>C (p.Val1254Leu) c.3622G>C (p.Val1208Leu) n.215G>C n.296G>C c.3718G>C (p.Val1240Leu) c.3682G>C (p.Val1228Leu) | |
| 1 | g.10345916G= | CA1153146209 | KIF1B | c.3823G= (p.Val1275=) c.3685G= (p.Val1229=) c.3760G= (p.Val1254=) c.3622G= (p.Val1208=) n.215G= n.296G= c.3718G= (p.Val1240=) c.3682G= (p.Val1228=) | |
| 1 | g.10345916G>T | CA338342508 | KIF1B | c.3823G>T (p.Val1275Phe) c.3685G>T (p.Val1229Phe) c.3760G>T (p.Val1254Phe) c.3622G>T (p.Val1208Phe) n.215G>T n.296G>T c.3718G>T (p.Val1240Phe) c.3682G>T (p.Val1228Phe) | |
| 1 | g.10345917T>A | CA338342513 | KIF1B | c.3824T>A (p.Val1275Asp) c.3686T>A (p.Val1229Asp) c.3761T>A (p.Val1254Asp) c.3623T>A (p.Val1208Asp) n.216T>A n.297T>A c.3719T>A (p.Val1240Asp) c.3683T>A (p.Val1228Asp) | |
| 1 | g.10345917T>C | CA338342512 | KIF1B | c.3824T>C (p.Val1275Ala) c.3686T>C (p.Val1229Ala) c.3761T>C (p.Val1254Ala) c.3623T>C (p.Val1208Ala) n.216T>C n.297T>C c.3719T>C (p.Val1240Ala) c.3683T>C (p.Val1228Ala) | COSMIC |
| 1 | g.10345917T>G | CA338342514 | KIF1B | c.3824T>G (p.Val1275Gly) c.3686T>G (p.Val1229Gly) c.3761T>G (p.Val1254Gly) c.3623T>G (p.Val1208Gly) n.216T>G n.297T>G c.3719T>G (p.Val1240Gly) c.3683T>G (p.Val1228Gly) | |
| 1 | g.10345918T>A | CA415884466 | KIF1B | c.3825T>A (p.Val1275=) c.3687T>A (p.Val1229=) c.3762T>A (p.Val1254=) c.3624T>A (p.Val1208=) n.217T>A n.298T>A c.3720T>A (p.Val1240=) c.3684T>A (p.Val1228=) | |
| 1 | g.10345918T>C | CA415884467 | KIF1B | c.3825T>C (p.Val1275=) c.3687T>C (p.Val1229=) c.3762T>C (p.Val1254=) c.3624T>C (p.Val1208=) n.217T>C n.298T>C c.3720T>C (p.Val1240=) c.3684T>C (p.Val1228=) | ClinVar |
| 1 | g.10345918T>G | CA415884468 | KIF1B | c.3825T>G (p.Val1275=) c.3687T>G (p.Val1229=) c.3762T>G (p.Val1254=) c.3624T>G (p.Val1208=) n.217T>G n.298T>G c.3720T>G (p.Val1240=) c.3684T>G (p.Val1228=) | |
| 1 | g.10345919T>A | CA338342515 | KIF1B | c.3826T>A (p.Trp1276Arg) c.3688T>A (p.Trp1230Arg) c.3763T>A (p.Trp1255Arg) c.3625T>A (p.Trp1209Arg) n.218T>A n.299T>A c.3721T>A (p.Trp1241Arg) c.3685T>A (p.Trp1229Arg) | |
| 1 | g.10345919T>C | CA338342517 | KIF1B | c.3826T>C (p.Trp1276Arg) c.3688T>C (p.Trp1230Arg) c.3763T>C (p.Trp1255Arg) c.3625T>C (p.Trp1209Arg) n.218T>C n.299T>C c.3721T>C (p.Trp1241Arg) c.3685T>C (p.Trp1229Arg) | |
| 1 | g.10345919T>G | CA338342516 | KIF1B | c.3826T>G (p.Trp1276Gly) c.3688T>G (p.Trp1230Gly) c.3763T>G (p.Trp1255Gly) c.3625T>G (p.Trp1209Gly) n.218T>G n.299T>G c.3721T>G (p.Trp1241Gly) c.3685T>G (p.Trp1229Gly) | |
| 1 | g.10345920G>A | CA338342518 | KIF1B | c.3827G>A (p.Trp1276Ter) c.3689G>A (p.Trp1230Ter) c.3764G>A (p.Trp1255Ter) c.3626G>A (p.Trp1209Ter) n.219G>A n.300G>A c.3722G>A (p.Trp1241Ter) c.3686G>A (p.Trp1229Ter) | |
| 1 | g.10345920G>C | CA338342519 | KIF1B | c.3827G>C (p.Trp1276Ser) c.3689G>C (p.Trp1230Ser) c.3764G>C (p.Trp1255Ser) c.3626G>C (p.Trp1209Ser) n.219G>C n.300G>C c.3722G>C (p.Trp1241Ser) c.3686G>C (p.Trp1229Ser) | ClinVar dbSNP |
| 1 | g.10345920G>T | CA338342520 | KIF1B | c.3827G>T (p.Trp1276Leu) c.3689G>T (p.Trp1230Leu) c.3764G>T (p.Trp1255Leu) c.3626G>T (p.Trp1209Leu) n.219G>T n.300G>T c.3722G>T (p.Trp1241Leu) c.3686G>T (p.Trp1229Leu) | |
| 1 | g.10345921G>A | CA338342521 | KIF1B | c.3828G>A (p.Trp1276Ter) c.3690G>A (p.Trp1230Ter) c.3765G>A (p.Trp1255Ter) c.3627G>A (p.Trp1209Ter) n.220G>A n.301G>A c.3723G>A (p.Trp1241Ter) c.3687G>A (p.Trp1229Ter) | dbSNP gnomAD v2 COSMIC |
| 1 | g.10345921G>C | CA338342522 | KIF1B | c.3828G>C (p.Trp1276Cys) c.3690G>C (p.Trp1230Cys) c.3765G>C (p.Trp1255Cys) c.3627G>C (p.Trp1209Cys) n.220G>C n.301G>C c.3723G>C (p.Trp1241Cys) c.3687G>C (p.Trp1229Cys) | |
| 1 | g.10345921G= | CA1153146210 | KIF1B | c.3828G= (p.Trp1276=) c.3690G= (p.Trp1230=) c.3765G= (p.Trp1255=) c.3627G= (p.Trp1209=) n.220G= n.301G= c.3723G= (p.Trp1241=) c.3687G= (p.Trp1229=) | |
| 1 | g.10345921G>T | CA338342523 | KIF1B | c.3828G>T (p.Trp1276Cys) c.3690G>T (p.Trp1230Cys) c.3765G>T (p.Trp1255Cys) c.3627G>T (p.Trp1209Cys) n.220G>T n.301G>T c.3723G>T (p.Trp1241Cys) c.3687G>T (p.Trp1229Cys) | |
| 1 | g.10345922T>A | CA338342526 | KIF1B | c.3829T>A (p.Phe1277Ile) c.3691T>A (p.Phe1231Ile) c.3766T>A (p.Phe1256Ile) c.3628T>A (p.Phe1210Ile) n.221T>A n.302T>A c.3724T>A (p.Phe1242Ile) c.3688T>A (p.Phe1230Ile) | |
| 1 | g.10345922T>C | CA338342524 | KIF1B | c.3829T>C (p.Phe1277Leu) c.3691T>C (p.Phe1231Leu) c.3766T>C (p.Phe1256Leu) c.3628T>C (p.Phe1210Leu) n.221T>C n.302T>C c.3724T>C (p.Phe1242Leu) c.3688T>C (p.Phe1230Leu) | |
| 1 | g.10345922T>G | CA338342525 | KIF1B | c.3829T>G (p.Phe1277Val) c.3691T>G (p.Phe1231Val) c.3766T>G (p.Phe1256Val) c.3628T>G (p.Phe1210Val) n.221T>G n.302T>G c.3724T>G (p.Phe1242Val) c.3688T>G (p.Phe1230Val) | |
| 1 | g.10345923T>A | CA338342527 | KIF1B | c.3830T>A (p.Phe1277Tyr) c.3692T>A (p.Phe1231Tyr) c.3767T>A (p.Phe1256Tyr) c.3629T>A (p.Phe1210Tyr) n.222T>A n.303T>A c.3725T>A (p.Phe1242Tyr) c.3689T>A (p.Phe1230Tyr) | |
| 1 | g.10345923T>C | CA338342528 | KIF1B | c.3830T>C (p.Phe1277Ser) c.3692T>C (p.Phe1231Ser) c.3767T>C (p.Phe1256Ser) c.3629T>C (p.Phe1210Ser) n.222T>C n.303T>C c.3725T>C (p.Phe1242Ser) c.3689T>C (p.Phe1230Ser) | ClinVar |
| 1 | g.10345923T>G | CA581866 | KIF1B | c.3830T>G (p.Phe1277Cys) c.3692T>G (p.Phe1231Cys) c.3767T>G (p.Phe1256Cys) c.3629T>G (p.Phe1210Cys) n.222T>G n.303T>G c.3725T>G (p.Phe1242Cys) c.3689T>G (p.Phe1230Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10345923T= | CA1147430149 | KIF1B | c.3830T= (p.Phe1277=) c.3692T= (p.Phe1231=) c.3767T= (p.Phe1256=) c.3629T= (p.Phe1210=) n.222T= n.303T= c.3725T= (p.Phe1242=) c.3689T= (p.Phe1230=) | |
| 1 | g.10345924T>A | CA338342529 | KIF1B | c.3831T>A (p.Phe1277Leu) c.3693T>A (p.Phe1231Leu) c.3768T>A (p.Phe1256Leu) c.3630T>A (p.Phe1210Leu) n.223T>A n.304T>A c.3726T>A (p.Phe1242Leu) c.3690T>A (p.Phe1230Leu) | |
| 1 | g.10345924T>C | CA415884469 | KIF1B | c.3831T>C (p.Phe1277=) c.3693T>C (p.Phe1231=) c.3768T>C (p.Phe1256=) c.3630T>C (p.Phe1210=) n.223T>C n.304T>C c.3726T>C (p.Phe1242=) c.3690T>C (p.Phe1230=) | |
| 1 | g.10345924T>G | CA338342530 | KIF1B | c.3831T>G (p.Phe1277Leu) c.3693T>G (p.Phe1231Leu) c.3768T>G (p.Phe1256Leu) c.3630T>G (p.Phe1210Leu) n.223T>G n.304T>G c.3726T>G (p.Phe1242Leu) c.3690T>G (p.Phe1230Leu) | gnomAD v4 |
| 1 | g.10345925G>A | CA338342533 | KIF1B | c.3832G>A (p.Glu1278Lys) c.3694G>A (p.Glu1232Lys) c.3769G>A (p.Glu1257Lys) c.3631G>A (p.Glu1211Lys) n.224G>A n.305G>A c.3727G>A (p.Glu1243Lys) c.3691G>A (p.Glu1231Lys) | |
| 1 | g.10345925G>C | CA338342531 | KIF1B | c.3832G>C (p.Glu1278Gln) c.3694G>C (p.Glu1232Gln) c.3769G>C (p.Glu1257Gln) c.3631G>C (p.Glu1211Gln) n.224G>C n.305G>C c.3727G>C (p.Glu1243Gln) c.3691G>C (p.Glu1231Gln) | |
| 1 | g.10345925G>T | CA338342532 | KIF1B | c.3832G>T (p.Glu1278Ter) c.3694G>T (p.Glu1232Ter) c.3769G>T (p.Glu1257Ter) c.3631G>T (p.Glu1211Ter) n.224G>T n.305G>T c.3727G>T (p.Glu1243Ter) c.3691G>T (p.Glu1231Ter) | |
| 1 | g.10345926A>C | CA338342534 | KIF1B | c.3833A>C (p.Glu1278Ala) c.3695A>C (p.Glu1232Ala) c.3770A>C (p.Glu1257Ala) c.3632A>C (p.Glu1211Ala) n.225A>C n.306A>C c.3728A>C (p.Glu1243Ala) c.3692A>C (p.Glu1231Ala) | |
| 1 | g.10345926A>G | CA338342535 | KIF1B | c.3833A>G (p.Glu1278Gly) c.3695A>G (p.Glu1232Gly) c.3770A>G (p.Glu1257Gly) c.3632A>G (p.Glu1211Gly) n.225A>G n.306A>G c.3728A>G (p.Glu1243Gly) c.3692A>G (p.Glu1231Gly) | |
| 1 | g.10345926A>T | CA338342536 | KIF1B | c.3833A>T (p.Glu1278Val) c.3695A>T (p.Glu1232Val) c.3770A>T (p.Glu1257Val) c.3632A>T (p.Glu1211Val) n.225A>T n.306A>T c.3728A>T (p.Glu1243Val) c.3692A>T (p.Glu1231Val) | |
| 1 | g.10345927G>A | CA415884470 | KIF1B | c.3834G>A (p.Glu1278=) c.3696G>A (p.Glu1232=) c.3771G>A (p.Glu1257=) c.3633G>A (p.Glu1211=) n.226G>A n.307G>A c.3729G>A (p.Glu1243=) c.3693G>A (p.Glu1231=) | |
| 1 | g.10345927G>C | CA581867 | KIF1B | c.3834G>C (p.Glu1278Asp) c.3696G>C (p.Glu1232Asp) c.3771G>C (p.Glu1257Asp) c.3633G>C (p.Glu1211Asp) n.226G>C n.307G>C c.3729G>C (p.Glu1243Asp) c.3693G>C (p.Glu1231Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.10345927G= | CA1153146211 | KIF1B | c.3834G= (p.Glu1278=) c.3696G= (p.Glu1232=) c.3771G= (p.Glu1257=) c.3633G= (p.Glu1211=) n.226G= n.307G= c.3729G= (p.Glu1243=) c.3693G= (p.Glu1231=) | |
| 1 | g.10345927G>T | CA338342537 | KIF1B | c.3834G>T (p.Glu1278Asp) c.3696G>T (p.Glu1232Asp) c.3771G>T (p.Glu1257Asp) c.3633G>T (p.Glu1211Asp) n.226G>T n.307G>T c.3729G>T (p.Glu1243Asp) c.3693G>T (p.Glu1231Asp) | |
| 1 | g.10345928A= | CA1148297669 | KIF1B | c.3835A= (p.Ile1279=) c.3697A= (p.Ile1233=) c.3772A= (p.Ile1258=) c.3634A= (p.Ile1212=) n.227A= n.308A= c.3730A= (p.Ile1244=) c.3694A= (p.Ile1232=) | |
| 1 | g.10345928A>C | CA338342538 | KIF1B | c.3835A>C (p.Ile1279Leu) c.3697A>C (p.Ile1233Leu) c.3772A>C (p.Ile1258Leu) c.3634A>C (p.Ile1212Leu) n.227A>C n.308A>C c.3730A>C (p.Ile1244Leu) c.3694A>C (p.Ile1232Leu) | |
| 1 | g.10345928A>G | CA581868 | KIF1B | c.3835A>G (p.Ile1279Val) c.3697A>G (p.Ile1233Val) c.3772A>G (p.Ile1258Val) c.3634A>G (p.Ile1212Val) n.227A>G n.308A>G c.3730A>G (p.Ile1244Val) c.3694A>G (p.Ile1232Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10345928A>T | CA338342539 | KIF1B | c.3835A>T (p.Ile1279Phe) c.3697A>T (p.Ile1233Phe) c.3772A>T (p.Ile1258Phe) c.3634A>T (p.Ile1212Phe) n.227A>T n.308A>T c.3730A>T (p.Ile1244Phe) c.3694A>T (p.Ile1232Phe) | |
| 1 | g.10345929T>A | CA338342540 | KIF1B | c.3836T>A (p.Ile1279Asn) c.3698T>A (p.Ile1233Asn) c.3773T>A (p.Ile1258Asn) c.3635T>A (p.Ile1212Asn) n.228T>A n.309T>A c.3731T>A (p.Ile1244Asn) c.3695T>A (p.Ile1232Asn) | |
| 1 | g.10345929T>C | CA338342541 | KIF1B | c.3836T>C (p.Ile1279Thr) c.3698T>C (p.Ile1233Thr) c.3773T>C (p.Ile1258Thr) c.3635T>C (p.Ile1212Thr) n.228T>C n.309T>C c.3731T>C (p.Ile1244Thr) c.3695T>C (p.Ile1232Thr) | |
| 1 | g.10345929T>G | CA338342542 | KIF1B | c.3836T>G (p.Ile1279Ser) c.3698T>G (p.Ile1233Ser) c.3773T>G (p.Ile1258Ser) c.3635T>G (p.Ile1212Ser) n.228T>G n.309T>G c.3731T>G (p.Ile1244Ser) c.3695T>G (p.Ile1232Ser) | |
| 1 | g.10345930C>A | CA415884472 | KIF1B | c.3837C>A (p.Ile1279=) c.3699C>A (p.Ile1233=) c.3774C>A (p.Ile1258=) c.3636C>A (p.Ile1212=) n.229C>A n.310C>A c.3732C>A (p.Ile1244=) c.3696C>A (p.Ile1232=) | |
| 1 | g.10345930C>G | CA338342543 | KIF1B | c.3837C>G (p.Ile1279Met) c.3699C>G (p.Ile1233Met) c.3774C>G (p.Ile1258Met) c.3636C>G (p.Ile1212Met) n.229C>G n.310C>G c.3732C>G (p.Ile1244Met) c.3696C>G (p.Ile1232Met) | |
| 1 | g.10345930C>T | CA415884471 | KIF1B | c.3837C>T (p.Ile1279=) c.3699C>T (p.Ile1233=) c.3774C>T (p.Ile1258=) c.3636C>T (p.Ile1212=) n.229C>T n.310C>T c.3732C>T (p.Ile1244=) c.3696C>T (p.Ile1232=) | gnomAD v4 |
| 1 | g.10345931A= | CA1153146212 | KIF1B | c.3838A= (p.Ser1280=) c.3700A= (p.Ser1234=) c.3775A= (p.Ser1259=) c.3637A= (p.Ser1213=) n.230A= n.311A= c.3733A= (p.Ser1245=) c.3697A= (p.Ser1233=) | |
| 1 | g.10345931A>C | CA338342544 | KIF1B | c.3838A>C (p.Ser1280Arg) c.3700A>C (p.Ser1234Arg) c.3775A>C (p.Ser1259Arg) c.3637A>C (p.Ser1213Arg) n.230A>C n.311A>C c.3733A>C (p.Ser1245Arg) c.3697A>C (p.Ser1233Arg) | |
| 1 | g.10345931A>G | CA338342546 | KIF1B | c.3838A>G (p.Ser1280Gly) c.3700A>G (p.Ser1234Gly) c.3775A>G (p.Ser1259Gly) c.3637A>G (p.Ser1213Gly) n.230A>G n.311A>G c.3733A>G (p.Ser1245Gly) c.3697A>G (p.Ser1233Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10345931A>T | CA338342545 | KIF1B | c.3838A>T (p.Ser1280Cys) c.3700A>T (p.Ser1234Cys) c.3775A>T (p.Ser1259Cys) c.3637A>T (p.Ser1213Cys) n.230A>T n.311A>T c.3733A>T (p.Ser1245Cys) c.3697A>T (p.Ser1233Cys) | |
| 1 | g.10345932G>A | CA581869 | KIF1B | c.3839G>A (p.Ser1280Asn) c.3701G>A (p.Ser1234Asn) c.3776G>A (p.Ser1259Asn) c.3638G>A (p.Ser1213Asn) n.231G>A n.312G>A c.3734G>A (p.Ser1245Asn) c.3698G>A (p.Ser1233Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.10345932G>C | CA338342547 | KIF1B | c.3839G>C (p.Ser1280Thr) c.3701G>C (p.Ser1234Thr) c.3776G>C (p.Ser1259Thr) c.3638G>C (p.Ser1213Thr) n.231G>C n.312G>C c.3734G>C (p.Ser1245Thr) c.3698G>C (p.Ser1233Thr) | |
| 1 | g.10345932G= | CA1153146213 | KIF1B | c.3839G= (p.Ser1280=) c.3701G= (p.Ser1234=) c.3776G= (p.Ser1259=) c.3638G= (p.Ser1213=) n.231G= n.312G= c.3734G= (p.Ser1245=) c.3698G= (p.Ser1233=) | |
| 1 | g.10345932G>T | CA338342548 | KIF1B | c.3839G>T (p.Ser1280Ile) c.3701G>T (p.Ser1234Ile) c.3776G>T (p.Ser1259Ile) c.3638G>T (p.Ser1213Ile) n.231G>T n.312G>T c.3734G>T (p.Ser1245Ile) c.3698G>T (p.Ser1233Ile) | |
| 1 | g.10345933T>A | CA338342549 | KIF1B | c.3840T>A (p.Ser1280Arg) c.3702T>A (p.Ser1234Arg) c.3777T>A (p.Ser1259Arg) c.3639T>A (p.Ser1213Arg) n.232T>A n.313T>A c.3735T>A (p.Ser1245Arg) c.3699T>A (p.Ser1233Arg) | |
| 1 | g.10345933T>C | CA415884473 | KIF1B | c.3840T>C (p.Ser1280=) c.3702T>C (p.Ser1234=) c.3777T>C (p.Ser1259=) c.3639T>C (p.Ser1213=) n.232T>C n.313T>C c.3735T>C (p.Ser1245=) c.3699T>C (p.Ser1233=) | |
| 1 | g.10345933T>G | CA338342550 | KIF1B | c.3840T>G (p.Ser1280Arg) c.3702T>G (p.Ser1234Arg) c.3777T>G (p.Ser1259Arg) c.3639T>G (p.Ser1213Arg) n.232T>G n.313T>G c.3735T>G (p.Ser1245Arg) c.3699T>G (p.Ser1233Arg) | |
| 1 | g.10345934G>A | CA338342551 | KIF1B | c.3841G>A (p.Glu1281Lys) c.3703G>A (p.Glu1235Lys) c.3778G>A (p.Glu1260Lys) c.3640G>A (p.Glu1214Lys) n.233G>A n.314G>A c.3736G>A (p.Glu1246Lys) c.3700G>A (p.Glu1234Lys) | |
| 1 | g.10345934G>C | CA338342552 | KIF1B | c.3841G>C (p.Glu1281Gln) c.3703G>C (p.Glu1235Gln) c.3778G>C (p.Glu1260Gln) c.3640G>C (p.Glu1214Gln) n.233G>C n.314G>C c.3736G>C (p.Glu1246Gln) c.3700G>C (p.Glu1234Gln) | |
| 1 | g.10345934G>T | CA338342553 | KIF1B | c.3841G>T (p.Glu1281Ter) c.3703G>T (p.Glu1235Ter) c.3778G>T (p.Glu1260Ter) c.3640G>T (p.Glu1214Ter) n.233G>T n.314G>T c.3736G>T (p.Glu1246Ter) c.3700G>T (p.Glu1234Ter) | |
| 1 | g.10345935A>C | CA338342554 | KIF1B | c.3842A>C (p.Glu1281Ala) c.3704A>C (p.Glu1235Ala) c.3779A>C (p.Glu1260Ala) c.3641A>C (p.Glu1214Ala) n.234A>C n.315A>C c.3737A>C (p.Glu1246Ala) c.3701A>C (p.Glu1234Ala) | |
| 1 | g.10345935A>G | CA338342555 | KIF1B | c.3842A>G (p.Glu1281Gly) c.3704A>G (p.Glu1235Gly) c.3779A>G (p.Glu1260Gly) c.3641A>G (p.Glu1214Gly) n.234A>G n.315A>G c.3737A>G (p.Glu1246Gly) c.3701A>G (p.Glu1234Gly) | |
| 1 | g.10345935A>T | CA338342556 | KIF1B | c.3842A>T (p.Glu1281Val) c.3704A>T (p.Glu1235Val) c.3779A>T (p.Glu1260Val) c.3641A>T (p.Glu1214Val) n.234A>T n.315A>T c.3737A>T (p.Glu1246Val) c.3701A>T (p.Glu1234Val) | |
| 1 | g.10345936A>C | CA338342557 | KIF1B | c.3843A>C (p.Glu1281Asp) c.3705A>C (p.Glu1235Asp) c.3780A>C (p.Glu1260Asp) c.3642A>C (p.Glu1214Asp) n.235A>C n.316A>C c.3738A>C (p.Glu1246Asp) c.3702A>C (p.Glu1234Asp) | |
| 1 | g.10345936A>G | CA415884474 | KIF1B | c.3843A>G (p.Glu1281=) c.3705A>G (p.Glu1235=) c.3780A>G (p.Glu1260=) c.3642A>G (p.Glu1214=) n.235A>G n.316A>G c.3738A>G (p.Glu1246=) c.3702A>G (p.Glu1234=) | |
| 1 | g.10345936A>T | CA338342558 | KIF1B | c.3843A>T (p.Glu1281Asp) c.3705A>T (p.Glu1235Asp) c.3780A>T (p.Glu1260Asp) c.3642A>T (p.Glu1214Asp) n.235A>T n.316A>T c.3738A>T (p.Glu1246Asp) c.3702A>T (p.Glu1234Asp) | |
| 1 | g.10345937C>A | CA338342559 | KIF1B | c.3844C>A (p.Leu1282Met) c.3706C>A (p.Leu1236Met) c.3781C>A (p.Leu1261Met) c.3643C>A (p.Leu1215Met) n.236C>A n.317C>A c.3739C>A (p.Leu1247Met) c.3703C>A (p.Leu1235Met) | |
| 1 | g.10345937C>G | CA338342560 | KIF1B | c.3844C>G (p.Leu1282Val) c.3706C>G (p.Leu1236Val) c.3781C>G (p.Leu1261Val) c.3643C>G (p.Leu1215Val) n.236C>G n.317C>G c.3739C>G (p.Leu1247Val) c.3703C>G (p.Leu1235Val) | |
| 1 | g.10345937C>T | CA415884475 | KIF1B | c.3844C>T (p.Leu1282=) c.3706C>T (p.Leu1236=) c.3781C>T (p.Leu1261=) c.3643C>T (p.Leu1215=) n.236C>T n.317C>T c.3739C>T (p.Leu1247=) c.3703C>T (p.Leu1235=) | |
| 1 | g.10345938T>A | CA338342561 | KIF1B | c.3845T>A (p.Leu1282Gln) c.3707T>A (p.Leu1236Gln) c.3782T>A (p.Leu1261Gln) c.3644T>A (p.Leu1215Gln) n.237T>A n.318T>A c.3740T>A (p.Leu1247Gln) c.3704T>A (p.Leu1235Gln) | |
| 1 | g.10345938T>C | CA338342562 | KIF1B | c.3845T>C (p.Leu1282Pro) c.3707T>C (p.Leu1236Pro) c.3782T>C (p.Leu1261Pro) c.3644T>C (p.Leu1215Pro) n.237T>C n.318T>C c.3740T>C (p.Leu1247Pro) c.3704T>C (p.Leu1235Pro) | |
| 1 | g.10345938T>G | CA338342563 | KIF1B | c.3845T>G (p.Leu1282Arg) c.3707T>G (p.Leu1236Arg) c.3782T>G (p.Leu1261Arg) c.3644T>G (p.Leu1215Arg) n.237T>G n.318T>G c.3740T>G (p.Leu1247Arg) c.3704T>G (p.Leu1235Arg) | gnomAD v4 |
| 1 | g.10345939G>A | CA415884477 | KIF1B | c.3846G>A (p.Leu1282=) c.3708G>A (p.Leu1236=) c.3783G>A (p.Leu1261=) c.3645G>A (p.Leu1215=) n.238G>A n.319G>A c.3741G>A (p.Leu1247=) c.3705G>A (p.Leu1235=) | |
| 1 | g.10345939G>C | CA415884478 | KIF1B | c.3846G>C (p.Leu1282=) c.3708G>C (p.Leu1236=) c.3783G>C (p.Leu1261=) c.3645G>C (p.Leu1215=) n.238G>C n.319G>C c.3741G>C (p.Leu1247=) c.3705G>C (p.Leu1235=) | |
| 1 | g.10345939G>T | CA415884480 | KIF1B | c.3846G>T (p.Leu1282=) c.3708G>T (p.Leu1236=) c.3783G>T (p.Leu1261=) c.3645G>T (p.Leu1215=) n.238G>T n.319G>T c.3741G>T (p.Leu1247=) c.3705G>T (p.Leu1235=) | |
| 1 | g.10345940G>A | CA338342564 | KIF1B | c.3847G>A (p.Glu1283Lys) c.3709G>A (p.Glu1237Lys) c.3784G>A (p.Glu1262Lys) c.3646G>A (p.Glu1216Lys) n.239G>A n.320G>A c.3742G>A (p.Glu1248Lys) c.3706G>A (p.Glu1236Lys) | |
| 1 | g.10345940G>C | CA338342565 | KIF1B | c.3847G>C (p.Glu1283Gln) c.3709G>C (p.Glu1237Gln) c.3784G>C (p.Glu1262Gln) c.3646G>C (p.Glu1216Gln) n.239G>C n.320G>C c.3742G>C (p.Glu1248Gln) c.3706G>C (p.Glu1236Gln) | |
| 1 | g.10345940G>T | CA338342566 | KIF1B | c.3847G>T (p.Glu1283Ter) c.3709G>T (p.Glu1237Ter) c.3784G>T (p.Glu1262Ter) c.3646G>T (p.Glu1216Ter) n.239G>T n.320G>T c.3742G>T (p.Glu1248Ter) c.3706G>T (p.Glu1236Ter) | |
| 1 | g.10345941A= | CA1153146214 | KIF1B | c.3848A= (p.Glu1283=) c.3710A= (p.Glu1237=) c.3785A= (p.Glu1262=) c.3647A= (p.Glu1216=) n.240A= n.321A= c.3743A= (p.Glu1248=) c.3707A= (p.Glu1236=) | |
| 1 | g.10345941A>C | CA338342567 | KIF1B | c.3848A>C (p.Glu1283Ala) c.3710A>C (p.Glu1237Ala) c.3785A>C (p.Glu1262Ala) c.3647A>C (p.Glu1216Ala) n.240A>C n.321A>C c.3743A>C (p.Glu1248Ala) c.3707A>C (p.Glu1236Ala) | |
| 1 | g.10345941A>G | CA581870 | KIF1B | c.3848A>G (p.Glu1283Gly) c.3710A>G (p.Glu1237Gly) c.3785A>G (p.Glu1262Gly) c.3647A>G (p.Glu1216Gly) n.240A>G n.321A>G c.3743A>G (p.Glu1248Gly) c.3707A>G (p.Glu1236Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10345941A>T | CA338342568 | KIF1B | c.3848A>T (p.Glu1283Val) c.3710A>T (p.Glu1237Val) c.3785A>T (p.Glu1262Val) c.3647A>T (p.Glu1216Val) n.240A>T n.321A>T c.3743A>T (p.Glu1248Val) c.3707A>T (p.Glu1236Val) | |
| 1 | g.10345942G>A | CA415884483 | KIF1B | c.3849G>A (p.Glu1283=) c.3711G>A (p.Glu1237=) c.3786G>A (p.Glu1262=) c.3648G>A (p.Glu1216=) n.241G>A n.322G>A c.3744G>A (p.Glu1248=) c.3708G>A (p.Glu1236=) | |
| 1 | g.10345942G>C | CA338342569 | KIF1B | c.3849G>C (p.Glu1283Asp) c.3711G>C (p.Glu1237Asp) c.3786G>C (p.Glu1262Asp) c.3648G>C (p.Glu1216Asp) n.241G>C n.322G>C c.3744G>C (p.Glu1248Asp) c.3708G>C (p.Glu1236Asp) | ClinVar gnomAD v4 |
| 1 | g.10345942G>T | CA338342570 | KIF1B | c.3849G>T (p.Glu1283Asp) c.3711G>T (p.Glu1237Asp) c.3786G>T (p.Glu1262Asp) c.3648G>T (p.Glu1216Asp) n.241G>T n.322G>T c.3744G>T (p.Glu1248Asp) c.3708G>T (p.Glu1236Asp) | |
| 1 | g.10345943C>A | CA338342572 | KIF1B | c.3850C>A (p.Pro1284Thr) c.3712C>A (p.Pro1238Thr) c.3787C>A (p.Pro1263Thr) c.3649C>A (p.Pro1217Thr) n.242C>A n.323C>A c.3745C>A (p.Pro1249Thr) c.3709C>A (p.Pro1237Thr) | gnomAD v4 |
| 1 | g.10345943C= | CA1141580570 | KIF1B | c.3850C= (p.Pro1284=) c.3712C= (p.Pro1238=) c.3787C= (p.Pro1263=) c.3649C= (p.Pro1217=) n.242C= n.323C= c.3745C= (p.Pro1249=) c.3709C= (p.Pro1237=) | |
| 1 | g.10345943C>G | CA338342571 | KIF1B | c.3850C>G (p.Pro1284Ala) c.3712C>G (p.Pro1238Ala) c.3787C>G (p.Pro1263Ala) c.3649C>G (p.Pro1217Ala) n.242C>G n.323C>G c.3745C>G (p.Pro1249Ala) c.3709C>G (p.Pro1237Ala) | |
| 1 | g.10345943C>T | CA116993 | KIF1B | c.3850C>T (p.Pro1284Ser) c.3712C>T (p.Pro1238Ser) c.3787C>T (p.Pro1263Ser) c.3649C>T (p.Pro1217Ser) n.242C>T n.323C>T c.3745C>T (p.Pro1249Ser) c.3709C>T (p.Pro1237Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10345944C>A | CA338342573 | KIF1B | c.3851C>A (p.Pro1284His) c.3713C>A (p.Pro1238His) c.3788C>A (p.Pro1263His) c.3650C>A (p.Pro1217His) n.243C>A n.324C>A c.3746C>A (p.Pro1249His) c.3710C>A (p.Pro1237His) | gnomAD v4 |
| 1 | g.10345944C>G | CA338342575 | KIF1B | c.3851C>G (p.Pro1284Arg) c.3713C>G (p.Pro1238Arg) c.3788C>G (p.Pro1263Arg) c.3650C>G (p.Pro1217Arg) n.243C>G n.324C>G c.3746C>G (p.Pro1249Arg) c.3710C>G (p.Pro1237Arg) | |
| 1 | g.10345944C>T | CA338342574 | KIF1B | c.3851C>T (p.Pro1284Leu) c.3713C>T (p.Pro1238Leu) c.3788C>T (p.Pro1263Leu) c.3650C>T (p.Pro1217Leu) n.243C>T n.324C>T c.3746C>T (p.Pro1249Leu) c.3710C>T (p.Pro1237Leu) | |
| 1 | g.10345945T>A | CA415884489 | KIF1B | c.3852T>A (p.Pro1284=) c.3714T>A (p.Pro1238=) c.3789T>A (p.Pro1263=) c.3651T>A (p.Pro1217=) n.244T>A n.325T>A c.3747T>A (p.Pro1249=) c.3711T>A (p.Pro1237=) | |
| 1 | g.10345945T>C | CA415884491 | KIF1B | c.3852T>C (p.Pro1284=) c.3714T>C (p.Pro1238=) c.3789T>C (p.Pro1263=) c.3651T>C (p.Pro1217=) n.244T>C n.325T>C c.3747T>C (p.Pro1249=) c.3711T>C (p.Pro1237=) | |
| 1 | g.10345945T>G | CA415884493 | KIF1B | c.3852T>G (p.Pro1284=) c.3714T>G (p.Pro1238=) c.3789T>G (p.Pro1263=) c.3651T>G (p.Pro1217=) n.244T>G n.325T>G c.3747T>G (p.Pro1249=) c.3711T>G (p.Pro1237=) | |
| 1 | g.10345946A>C | CA338342577 | KIF1B | c.3853A>C (p.Thr1285Pro) c.3715A>C (p.Thr1239Pro) c.3790A>C (p.Thr1264Pro) c.3652A>C (p.Thr1218Pro) n.245A>C n.326A>C c.3748A>C (p.Thr1250Pro) c.3712A>C (p.Thr1238Pro) | |
| 1 | g.10345946A>G | CA338342578 | KIF1B | c.3853A>G (p.Thr1285Ala) c.3715A>G (p.Thr1239Ala) c.3790A>G (p.Thr1264Ala) c.3652A>G (p.Thr1218Ala) n.245A>G n.326A>G c.3748A>G (p.Thr1250Ala) c.3712A>G (p.Thr1238Ala) | ClinVar gnomAD v4 |
| 1 | g.10345946A>T | CA338342579 | KIF1B | c.3853A>T (p.Thr1285Ser) c.3715A>T (p.Thr1239Ser) c.3790A>T (p.Thr1264Ser) c.3652A>T (p.Thr1218Ser) n.245A>T n.326A>T c.3748A>T (p.Thr1250Ser) c.3712A>T (p.Thr1238Ser) | |
| 1 | g.10345947C>A | CA338342580 | KIF1B | c.3854C>A (p.Thr1285Lys) c.3716C>A (p.Thr1239Lys) c.3791C>A (p.Thr1264Lys) c.3653C>A (p.Thr1218Lys) n.246C>A n.327C>A c.3749C>A (p.Thr1250Lys) c.3713C>A (p.Thr1238Lys) | |
| 1 | g.10345947C>G | CA338342581 | KIF1B | c.3854C>G (p.Thr1285Arg) c.3716C>G (p.Thr1239Arg) c.3791C>G (p.Thr1264Arg) c.3653C>G (p.Thr1218Arg) n.246C>G n.327C>G c.3749C>G (p.Thr1250Arg) c.3713C>G (p.Thr1238Arg) | |
| 1 | g.10345947C>T | CA338342582 | KIF1B | c.3854C>T (p.Thr1285Ile) c.3716C>T (p.Thr1239Ile) c.3791C>T (p.Thr1264Ile) c.3653C>T (p.Thr1218Ile) n.246C>T n.327C>T c.3749C>T (p.Thr1250Ile) c.3713C>T (p.Thr1238Ile) | |
| 1 | g.10345948A= | CA1153146215 | KIF1B | c.3855A= (p.Thr1285=) c.3717A= (p.Thr1239=) c.3792A= (p.Thr1264=) c.3654A= (p.Thr1218=) n.247A= n.328A= c.3750A= (p.Thr1250=) c.3714A= (p.Thr1238=) | |
| 1 | g.10345948A>C | CA415884500 | KIF1B | c.3855A>C (p.Thr1285=) c.3717A>C (p.Thr1239=) c.3792A>C (p.Thr1264=) c.3654A>C (p.Thr1218=) n.247A>C n.328A>C c.3750A>C (p.Thr1250=) c.3714A>C (p.Thr1238=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10345948A>G | CA415884501 | KIF1B | c.3855A>G (p.Thr1285=) c.3717A>G (p.Thr1239=) c.3792A>G (p.Thr1264=) c.3654A>G (p.Thr1218=) n.247A>G n.328A>G c.3750A>G (p.Thr1250=) c.3714A>G (p.Thr1238=) | gnomAD v4 |
| 1 | g.10345948A>T | CA415884502 | KIF1B | c.3855A>T (p.Thr1285=) c.3717A>T (p.Thr1239=) c.3792A>T (p.Thr1264=) c.3654A>T (p.Thr1218=) n.247A>T n.328A>T c.3750A>T (p.Thr1250=) c.3714A>T (p.Thr1238=) | |
| 1 | g.10345949G>A | CA338342583 | KIF1B | c.3856G>A (p.Gly1286Arg) c.3718G>A (p.Gly1240Arg) c.3793G>A (p.Gly1265Arg) c.3655G>A (p.Gly1219Arg) n.248G>A n.329G>A c.3751G>A (p.Gly1251Arg) c.3715G>A (p.Gly1239Arg) | gnomAD v4 |
| 1 | g.10345949G>C | CA338342584 | KIF1B | c.3856G>C (p.Gly1286Arg) c.3718G>C (p.Gly1240Arg) c.3793G>C (p.Gly1265Arg) c.3655G>C (p.Gly1219Arg) n.248G>C n.329G>C c.3751G>C (p.Gly1251Arg) c.3715G>C (p.Gly1239Arg) | |
| 1 | g.10345949G>T | CA338342585 | KIF1B | c.3856G>T (p.Gly1286Ter) c.3718G>T (p.Gly1240Ter) c.3793G>T (p.Gly1265Ter) c.3655G>T (p.Gly1219Ter) n.248G>T n.329G>T c.3751G>T (p.Gly1251Ter) c.3715G>T (p.Gly1239Ter) | |
| 1 | g.10345950G>A | CA338342586 | KIF1B | c.3857G>A (p.Gly1286Glu) c.3719G>A (p.Gly1240Glu) c.3794G>A (p.Gly1265Glu) c.3656G>A (p.Gly1219Glu) n.249G>A n.330G>A c.3752G>A (p.Gly1251Glu) c.3716G>A (p.Gly1239Glu) | |
| 1 | g.10345950G>C | CA338342587 | KIF1B | c.3857G>C (p.Gly1286Ala) c.3719G>C (p.Gly1240Ala) c.3794G>C (p.Gly1265Ala) c.3656G>C (p.Gly1219Ala) n.249G>C n.330G>C c.3752G>C (p.Gly1251Ala) c.3716G>C (p.Gly1239Ala) | ClinVar |
| 1 | g.10345950G>T | CA338342588 | KIF1B | c.3857G>T (p.Gly1286Val) c.3719G>T (p.Gly1240Val) c.3794G>T (p.Gly1265Val) c.3656G>T (p.Gly1219Val) n.249G>T n.330G>T c.3752G>T (p.Gly1251Val) c.3716G>T (p.Gly1239Val) | |
| 1 | g.10345951A>C | CA415884510 | KIF1B | c.3858A>C (p.Gly1286=) c.3720A>C (p.Gly1240=) c.3795A>C (p.Gly1265=) c.3657A>C (p.Gly1219=) n.250A>C n.331A>C c.3753A>C (p.Gly1251=) c.3717A>C (p.Gly1239=) | |
| 1 | g.10345951A>G | CA415884508 | KIF1B | c.3858A>G (p.Gly1286=) c.3720A>G (p.Gly1240=) c.3795A>G (p.Gly1265=) c.3657A>G (p.Gly1219=) n.250A>G n.331A>G c.3753A>G (p.Gly1251=) c.3717A>G (p.Gly1239=) | |
| 1 | g.10345951A>T | CA415884507 | KIF1B | c.3858A>T (p.Gly1286=) c.3720A>T (p.Gly1240=) c.3795A>T (p.Gly1265=) c.3657A>T (p.Gly1219=) n.250A>T n.331A>T c.3753A>T (p.Gly1251=) c.3717A>T (p.Gly1239=) | |
| 1 | g.10345952G>A | CA338342591 | KIF1B | c.3859G>A (p.Glu1287Lys) c.3721G>A (p.Glu1241Lys) c.3796G>A (p.Glu1266Lys) c.3658G>A (p.Glu1220Lys) n.251G>A n.332G>A c.3754G>A (p.Glu1252Lys) c.3718G>A (p.Glu1240Lys) | |
| 1 | g.10345952G>C | CA338342589 | KIF1B | c.3859G>C (p.Glu1287Gln) c.3721G>C (p.Glu1241Gln) c.3796G>C (p.Glu1266Gln) c.3658G>C (p.Glu1220Gln) n.251G>C n.332G>C c.3754G>C (p.Glu1252Gln) c.3718G>C (p.Glu1240Gln) | |
| 1 | g.10345952G>T | CA338342590 | KIF1B | c.3859G>T (p.Glu1287Ter) c.3721G>T (p.Glu1241Ter) c.3796G>T (p.Glu1266Ter) c.3658G>T (p.Glu1220Ter) n.251G>T n.332G>T c.3754G>T (p.Glu1252Ter) c.3718G>T (p.Glu1240Ter) | |
| 1 | g.10345953A>C | CA338342592 | KIF1B | c.3860A>C (p.Glu1287Ala) c.3722A>C (p.Glu1241Ala) c.3797A>C (p.Glu1266Ala) c.3659A>C (p.Glu1220Ala) n.252A>C n.333A>C c.3755A>C (p.Glu1252Ala) c.3719A>C (p.Glu1240Ala) | |
| 1 | g.10345953A>G | CA338342593 | KIF1B | c.3860A>G (p.Glu1287Gly) c.3722A>G (p.Glu1241Gly) c.3797A>G (p.Glu1266Gly) c.3659A>G (p.Glu1220Gly) n.252A>G n.333A>G c.3755A>G (p.Glu1252Gly) c.3719A>G (p.Glu1240Gly) | |
| 1 | g.10345953A>T | CA338342594 | KIF1B | c.3860A>T (p.Glu1287Val) c.3722A>T (p.Glu1241Val) c.3797A>T (p.Glu1266Val) c.3659A>T (p.Glu1220Val) n.252A>T n.333A>T c.3755A>T (p.Glu1252Val) c.3719A>T (p.Glu1240Val) | |
| 1 | g.10345954G>A | CA338342595 | KIF1B | c.3860+1G>A (n.3860+1G>A) c.3722+1G>A (n.3722+1G>A) c.3797+1G>A (n.3797+1G>A) c.3659+1G>A (n.3659+1G>A) n.252+1G>A n.333+1G>A c.3755+1G>A (n.3755+1G>A) c.3719+1G>A (n.3719+1G>A) | |
| 1 | g.10345954G>C | CA338342596 | KIF1B | c.3860+1G>C (n.3860+1G>C) c.3722+1G>C (n.3722+1G>C) c.3797+1G>C (n.3797+1G>C) c.3659+1G>C (n.3659+1G>C) n.252+1G>C n.333+1G>C c.3755+1G>C (n.3755+1G>C) c.3719+1G>C (n.3719+1G>C) | |
| 1 | g.10345954G>T | CA338342597 | KIF1B | c.3860+1G>T (n.3860+1G>T) c.3722+1G>T (n.3722+1G>T) c.3797+1G>T (n.3797+1G>T) c.3659+1G>T (n.3659+1G>T) n.252+1G>T n.333+1G>T c.3755+1G>T (n.3755+1G>T) c.3719+1G>T (n.3719+1G>T) | |
| 1 | g.10345955del | CA2574206348 | KIF1B | c.3860+2del (n.3860+2del) c.3722+2del (n.3722+2del) c.3797+2del (n.3797+2del) c.3659+2del (n.3659+2del) n.252+2del n.333+2del c.3755+2del (n.3755+2del) c.3719+2del (n.3719+2del) | |
| 1 | g.10345955T>A | CA338342598 | KIF1B | c.3860+2T>A (n.3860+2T>A) c.3722+2T>A (n.3722+2T>A) c.3797+2T>A (n.3797+2T>A) c.3659+2T>A (n.3659+2T>A) n.252+2T>A n.333+2T>A c.3755+2T>A (n.3755+2T>A) c.3719+2T>A (n.3719+2T>A) | gnomAD v4 |
| 1 | g.10345955T>C | CA338342599 | KIF1B | c.3860+2T>C (n.3860+2T>C) c.3722+2T>C (n.3722+2T>C) c.3797+2T>C (n.3797+2T>C) c.3659+2T>C (n.3659+2T>C) n.252+2T>C n.333+2T>C c.3755+2T>C (n.3755+2T>C) c.3719+2T>C (n.3719+2T>C) | |
| 1 | g.10345955T>G | CA338342600 | KIF1B | c.3860+2T>G (n.3860+2T>G) c.3722+2T>G (n.3722+2T>G) c.3797+2T>G (n.3797+2T>G) c.3659+2T>G (n.3659+2T>G) n.252+2T>G n.333+2T>G c.3755+2T>G (n.3755+2T>G) c.3719+2T>G (n.3719+2T>G) | |
| 1 | g.10345957del | CA2643182729 | KIF1B | c.3860+4del (n.3860+4del) c.3722+4del (n.3722+4del) c.3797+4del (n.3797+4del) c.3659+4del (n.3659+4del) n.252+4del n.333+4del c.3755+4del (n.3755+4del) c.3719+4del (n.3719+4del) | gnomAD v4 |
| 1 | g.10345957A= | CA1153146216 | KIF1B | c.3860+4A= (n.3860+4A=) c.3722+4A= (n.3722+4A=) c.3797+4A= (n.3797+4A=) c.3659+4A= (n.3659+4A=) n.252+4A= n.333+4A= c.3755+4A= (n.3755+4A=) c.3719+4A= (n.3719+4A=) | |
| 1 | g.10345957A>C | CA1153146217 | KIF1B | c.3860+4A>C (n.3860+4A>C) c.3722+4A>C (n.3722+4A>C) c.3797+4A>C (n.3797+4A>C) c.3659+4A>C (n.3659+4A>C) n.252+4A>C n.333+4A>C c.3755+4A>C (n.3755+4A>C) c.3719+4A>C (n.3719+4A>C) | dbSNP |
| 1 | g.10345960C>A | CA2643182730 | KIF1B | c.3860+7C>A (n.3860+7C>A) c.3722+7C>A (n.3722+7C>A) c.3797+7C>A (n.3797+7C>A) c.3659+7C>A (n.3659+7C>A) n.252+7C>A n.333+7C>A c.3755+7C>A (n.3755+7C>A) c.3719+7C>A (n.3719+7C>A) | gnomAD v4 |
| 1 | g.10345961C>A | CA2574206356 | KIF1B | c.3860+8C>A (n.3860+8C>A) c.3722+8C>A (n.3722+8C>A) c.3797+8C>A (n.3797+8C>A) c.3659+8C>A (n.3659+8C>A) n.252+8C>A n.333+8C>A c.3755+8C>A (n.3755+8C>A) c.3719+8C>A (n.3719+8C>A) | gnomAD v4 |
| 1 | g.10345961C>G | CA2643182732 | KIF1B | c.3860+8C>G (n.3860+8C>G) c.3722+8C>G (n.3722+8C>G) c.3797+8C>G (n.3797+8C>G) c.3659+8C>G (n.3659+8C>G) n.252+8C>G n.333+8C>G c.3755+8C>G (n.3755+8C>G) c.3719+8C>G (n.3719+8C>G) | gnomAD v4 |
| 1 | g.10345963A= | CA1153146218 | KIF1B | c.3860+10A= (n.3860+10A=) c.3722+10A= (n.3722+10A=) c.3797+10A= (n.3797+10A=) c.3659+10A= (n.3659+10A=) n.252+10A= n.333+10A= c.3755+10A= (n.3755+10A=) c.3719+10A= (n.3719+10A=) | |
| 1 | g.10345963A>G | CA521151380 | KIF1B | c.3860+10A>G (n.3860+10A>G) c.3722+10A>G (n.3722+10A>G) c.3797+10A>G (n.3797+10A>G) c.3659+10A>G (n.3659+10A>G) n.252+10A>G n.333+10A>G c.3755+10A>G (n.3755+10A>G) c.3719+10A>G (n.3719+10A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10345964C>A | CA2643182733 | KIF1B | c.3860+11C>A (n.3860+11C>A) c.3722+11C>A (n.3722+11C>A) c.3797+11C>A (n.3797+11C>A) c.3659+11C>A (n.3659+11C>A) n.252+11C>A n.333+11C>A c.3755+11C>A (n.3755+11C>A) c.3719+11C>A (n.3719+11C>A) | gnomAD v4 |
| 1 | g.10345964C>T | CA2643182734 | KIF1B | c.3860+11C>T (n.3860+11C>T) c.3722+11C>T (n.3722+11C>T) c.3797+11C>T (n.3797+11C>T) c.3659+11C>T (n.3659+11C>T) n.252+11C>T n.333+11C>T c.3755+11C>T (n.3755+11C>T) c.3719+11C>T (n.3719+11C>T) | gnomAD v4 |
| 1 | g.10345966T>C | CA2643182735 | KIF1B | c.3860+13T>C (n.3860+13T>C) c.3722+13T>C (n.3722+13T>C) c.3797+13T>C (n.3797+13T>C) c.3659+13T>C (n.3659+13T>C) n.252+13T>C n.333+13T>C c.3755+13T>C (n.3755+13T>C) c.3719+13T>C (n.3719+13T>C) | gnomAD v4 |
| 1 | g.10345966T>G | CA17845075 | KIF1B | c.3860+13T>G (n.3860+13T>G) c.3722+13T>G (n.3722+13T>G) c.3797+13T>G (n.3797+13T>G) c.3659+13T>G (n.3659+13T>G) n.252+13T>G n.333+13T>G c.3755+13T>G (n.3755+13T>G) c.3719+13T>G (n.3719+13T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10345966T= | CA1153146219 | KIF1B | c.3860+13T= (n.3860+13T=) c.3722+13T= (n.3722+13T=) c.3797+13T= (n.3797+13T=) c.3659+13T= (n.3659+13T=) n.252+13T= n.333+13T= c.3755+13T= (n.3755+13T=) c.3719+13T= (n.3719+13T=) | |
| 1 | g.10345970_10345973del | CA2643182737 | KIF1B | c.3860+17_3860+20del (n.3860+17_3860+20del) c.3722+17_3722+20del (n.3722+17_3722+20del) c.3797+17_3797+20del (n.3797+17_3797+20del) c.3659+17_3659+20del (n.3659+17_3659+20del) n.252+17_252+20del n.333+17_333+20del c.3755+17_3755+20del (n.3755+17_3755+20del) c.3719+17_3719+20del (n.3719+17_3719+20del) | gnomAD v4 |
| 1 | g.10345968A>G | CA2574206358 | KIF1B | c.3860+15A>G (n.3860+15A>G) c.3722+15A>G (n.3722+15A>G) c.3797+15A>G (n.3797+15A>G) c.3659+15A>G (n.3659+15A>G) n.252+15A>G n.333+15A>G c.3755+15A>G (n.3755+15A>G) c.3719+15A>G (n.3719+15A>G) | gnomAD v4 |
| 1 | g.10345969T>C | CA521151382 | KIF1B | c.3860+16T>C (n.3860+16T>C) c.3722+16T>C (n.3722+16T>C) c.3797+16T>C (n.3797+16T>C) c.3659+16T>C (n.3659+16T>C) n.252+16T>C n.333+16T>C c.3755+16T>C (n.3755+16T>C) c.3719+16T>C (n.3719+16T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10345969T= | CA1153146220 | KIF1B | c.3860+16T= (n.3860+16T=) c.3722+16T= (n.3722+16T=) c.3797+16T= (n.3797+16T=) c.3659+16T= (n.3659+16T=) n.252+16T= n.333+16T= c.3755+16T= (n.3755+16T=) c.3719+16T= (n.3719+16T=) | |
| 1 | g.10345970A>G | CA2643182738 | KIF1B | c.3860+17A>G (n.3860+17A>G) c.3722+17A>G (n.3722+17A>G) c.3797+17A>G (n.3797+17A>G) c.3659+17A>G (n.3659+17A>G) n.252+17A>G n.333+17A>G c.3755+17A>G (n.3755+17A>G) c.3719+17A>G (n.3719+17A>G) | gnomAD v4 |
| 1 | g.10345971A>C | CA2643182739 | KIF1B | c.3860+18A>C (n.3860+18A>C) c.3722+18A>C (n.3722+18A>C) c.3797+18A>C (n.3797+18A>C) c.3659+18A>C (n.3659+18A>C) n.252+18A>C n.333+18A>C c.3755+18A>C (n.3755+18A>C) c.3719+18A>C (n.3719+18A>C) | gnomAD v4 |
| 1 | g.10345974T>G | CA2643182740 | KIF1B | c.3860+21T>G (n.3860+21T>G) c.3722+21T>G (n.3722+21T>G) c.3797+21T>G (n.3797+21T>G) c.3659+21T>G (n.3659+21T>G) n.252+21T>G n.333+21T>G c.3755+21T>G (n.3755+21T>G) c.3719+21T>G (n.3719+21T>G) | gnomAD v4 |
| 1 | g.10345977T>G | CA581871 | KIF1B | c.3860+24T>G (n.3860+24T>G) c.3722+24T>G (n.3722+24T>G) c.3797+24T>G (n.3797+24T>G) c.3659+24T>G (n.3659+24T>G) n.252+24T>G n.333+24T>G c.3755+24T>G (n.3755+24T>G) c.3719+24T>G (n.3719+24T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.10345977T= | CA1153146222 | KIF1B | c.3860+24T= (n.3860+24T=) c.3722+24T= (n.3722+24T=) c.3797+24T= (n.3797+24T=) c.3659+24T= (n.3659+24T=) n.252+24T= n.333+24T= c.3755+24T= (n.3755+24T=) c.3719+24T= (n.3719+24T=) | |
| 1 | g.10345977_10345978delinsTA | CA1153146221 | KIF1B | c.3860+24_3860+25delinsTA (n.3860+24_3860+25delinsTA) c.3722+24_3722+25delinsTA (n.3722+24_3722+25delinsTA) c.3797+24_3797+25delinsTA (n.3797+24_3797+25delinsTA) c.3659+24_3659+25delinsTA (n.3659+24_3659+25delinsTA) n.252+24_252+25delinsTA n.333+24_333+25delinsTA c.3755+24_3755+25delinsTA (n.3755+24_3755+25delinsTA) c.3719+24_3719+25delinsTA (n.3719+24_3719+25delinsTA) | |
| 1 | g.10345980dup | CA581872 | KIF1B | c.3860+27dup (n.3860+27dup) c.3722+27dup (n.3722+27dup) c.3797+27dup (n.3797+27dup) c.3659+27dup (n.3659+27dup) n.252+27dup n.333+27dup c.3755+27dup (n.3755+27dup) c.3719+27dup (n.3719+27dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.10345980del | CA884749548 | KIF1B | c.3860+27del (n.3860+27del) c.3722+27del (n.3722+27del) c.3797+27del (n.3797+27del) c.3659+27del (n.3659+27del) n.252+27del n.333+27del c.3755+27del (n.3755+27del) c.3719+27del (n.3719+27del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.10345980A>G | CA2643182741 | KIF1B | c.3860+27A>G (n.3860+27A>G) c.3722+27A>G (n.3722+27A>G) c.3797+27A>G (n.3797+27A>G) c.3659+27A>G (n.3659+27A>G) n.252+27A>G n.333+27A>G c.3755+27A>G (n.3755+27A>G) c.3719+27A>G (n.3719+27A>G) | gnomAD v4 |
| 1 | g.10345983A= | CA1153146223 | KIF1B | c.3860+30A= (n.3860+30A=) c.3722+30A= (n.3722+30A=) c.3797+30A= (n.3797+30A=) c.3659+30A= (n.3659+30A=) n.252+30A= n.333+30A= c.3755+30A= (n.3755+30A=) c.3719+30A= (n.3719+30A=) | |
| 1 | g.10345983A>G | CA1153146224 | KIF1B | c.3860+30A>G (n.3860+30A>G) c.3722+30A>G (n.3722+30A>G) c.3797+30A>G (n.3797+30A>G) c.3659+30A>G (n.3659+30A>G) n.252+30A>G n.333+30A>G c.3755+30A>G (n.3755+30A>G) c.3719+30A>G (n.3719+30A>G) | dbSNP |
| 1 | g.10345984G= | CA1153146225 | KIF1B | c.3860+31G= (n.3860+31G=) c.3722+31G= (n.3722+31G=) c.3797+31G= (n.3797+31G=) c.3659+31G= (n.3659+31G=) n.252+31G= n.333+31G= c.3755+31G= (n.3755+31G=) c.3719+31G= (n.3719+31G=) | |
| 1 | g.10345984G>T | CA884749549 | KIF1B | c.3860+31G>T (n.3860+31G>T) c.3722+31G>T (n.3722+31G>T) c.3797+31G>T (n.3797+31G>T) c.3659+31G>T (n.3659+31G>T) n.252+31G>T n.333+31G>T c.3755+31G>T (n.3755+31G>T) c.3719+31G>T (n.3719+31G>T) | dbSNP |
| 1 | g.10345986C>A | CA2574206360 | KIF1B | c.3860+33C>A (n.3860+33C>A) c.3722+33C>A (n.3722+33C>A) c.3797+33C>A (n.3797+33C>A) c.3659+33C>A (n.3659+33C>A) n.252+33C>A n.333+33C>A c.3755+33C>A (n.3755+33C>A) c.3719+33C>A (n.3719+33C>A) | gnomAD v4 |
| 1 | g.10345986C= | CA1153146226 | KIF1B | c.3860+33C= (n.3860+33C=) c.3722+33C= (n.3722+33C=) c.3797+33C= (n.3797+33C=) c.3659+33C= (n.3659+33C=) n.252+33C= n.333+33C= c.3755+33C= (n.3755+33C=) c.3719+33C= (n.3719+33C=) | |
| 1 | g.10345986C>T | CA521151383 | KIF1B | c.3860+33C>T (n.3860+33C>T) c.3722+33C>T (n.3722+33C>T) c.3797+33C>T (n.3797+33C>T) c.3659+33C>T (n.3659+33C>T) n.252+33C>T n.333+33C>T c.3755+33C>T (n.3755+33C>T) c.3719+33C>T (n.3719+33C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10345988A>G | CA2643182743 | KIF1B | c.3860+35A>G (n.3860+35A>G) c.3722+35A>G (n.3722+35A>G) c.3797+35A>G (n.3797+35A>G) c.3659+35A>G (n.3659+35A>G) n.252+35A>G n.333+35A>G c.3755+35A>G (n.3755+35A>G) c.3719+35A>G (n.3719+35A>G) | gnomAD v4 |
| 1 | g.10345990A= | CA1153146227 | KIF1B | c.3860+37A= (n.3860+37A=) c.3722+37A= (n.3722+37A=) c.3797+37A= (n.3797+37A=) c.3659+37A= (n.3659+37A=) n.252+37A= n.333+37A= c.3755+37A= (n.3755+37A=) c.3719+37A= (n.3719+37A=) | |
| 1 | g.10345990A>G | CA581873 | KIF1B | c.3860+37A>G (n.3860+37A>G) c.3722+37A>G (n.3722+37A>G) c.3797+37A>G (n.3797+37A>G) c.3659+37A>G (n.3659+37A>G) n.252+37A>G n.333+37A>G c.3755+37A>G (n.3755+37A>G) c.3719+37A>G (n.3719+37A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.10345991T= | CA1153146228 | KIF1B | c.3860+38T= (n.3860+38T=) c.3722+38T= (n.3722+38T=) c.3797+38T= (n.3797+38T=) c.3659+38T= (n.3659+38T=) n.252+38T= n.333+38T= c.3755+38T= (n.3755+38T=) c.3719+38T= (n.3719+38T=) | |
| 1 | g.10345991_10345992insCTG | CA581874 | KIF1B | c.3860+38_3860+39insCTG (n.3860+38_3860+39insCTG) c.3722+38_3722+39insCTG (n.3722+38_3722+39insCTG) c.3797+38_3797+39insCTG (n.3797+38_3797+39insCTG) c.3659+38_3659+39insCTG (n.3659+38_3659+39insCTG) n.252+38_252+39insCTG n.333+38_333+39insCTG c.3755+38_3755+39insCTG (n.3755+38_3755+39insCTG) c.3719+38_3719+39insCTG (n.3719+38_3719+39insCTG) | dbSNP ExAC |
| 1 | g.10345992G>A | CA17845095 | KIF1B | c.3860+39G>A (n.3860+39G>A) c.3722+39G>A (n.3722+39G>A) c.3797+39G>A (n.3797+39G>A) c.3659+39G>A (n.3659+39G>A) n.252+39G>A n.333+39G>A c.3755+39G>A (n.3755+39G>A) c.3719+39G>A (n.3719+39G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.10345992G= | CA1153146229 | KIF1B | c.3860+39G= (n.3860+39G=) c.3722+39G= (n.3722+39G=) c.3797+39G= (n.3797+39G=) c.3659+39G= (n.3659+39G=) n.252+39G= n.333+39G= c.3755+39G= (n.3755+39G=) c.3719+39G= (n.3719+39G=) |