Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.10365564C>A | CA338322220 | KIF1B | c.4731C>A (p.Ser1577Arg) c.4593C>A (p.Ser1531Arg) c.4668C>A (p.Ser1556Arg) c.4530C>A (p.Ser1510Arg) n.399C>A c.4626C>A (p.Ser1542Arg) c.4590C>A (p.Ser1530Arg) c.713C>A n.355+817G>T n.230+817G>T | dbSNP |
1 | g.10365564C= | CA1153161711 | KIF1B | c.4731C= (p.Ser1577=) c.4593C= (p.Ser1531=) c.4668C= (p.Ser1556=) c.4530C= (p.Ser1510=) n.399C= c.4626C= (p.Ser1542=) c.4590C= (p.Ser1530=) c.713C= n.355+817G= n.230+817G= | |
1 | g.10365564C>G | CA338322221 | KIF1B | c.4731C>G (p.Ser1577Arg) c.4593C>G (p.Ser1531Arg) c.4668C>G (p.Ser1556Arg) c.4530C>G (p.Ser1510Arg) n.399C>G c.4626C>G (p.Ser1542Arg) c.4590C>G (p.Ser1530Arg) c.713C>G n.355+817G>C n.230+817G>C | |
1 | g.10365564C>T | CA582144 | KIF1B | c.4731C>T (p.Ser1577=) c.4593C>T (p.Ser1531=) c.4668C>T (p.Ser1556=) c.4530C>T (p.Ser1510=) n.399C>T c.4626C>T (p.Ser1542=) c.4590C>T (p.Ser1530=) c.713C>T n.355+817G>A n.230+817G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10365565G>A | CA582145 | KIF1B | c.4732G>A (p.Ala1578Thr) c.4594G>A (p.Ala1532Thr) c.4669G>A (p.Ala1557Thr) c.4531G>A (p.Ala1511Thr) n.400G>A c.4627G>A (p.Ala1543Thr) c.4591G>A (p.Ala1531Thr) c.714G>A n.355+816C>T n.230+816C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.10365565G>C | CA338322225 | KIF1B | c.4732G>C (p.Ala1578Pro) c.4594G>C (p.Ala1532Pro) c.4669G>C (p.Ala1557Pro) c.4531G>C (p.Ala1511Pro) n.400G>C c.4627G>C (p.Ala1543Pro) c.4591G>C (p.Ala1531Pro) c.714G>C n.355+816C>G n.230+816C>G | |
1 | g.10365565G= | CA1143405229 | KIF1B | c.4732G= (p.Ala1578=) c.4594G= (p.Ala1532=) c.4669G= (p.Ala1557=) c.4531G= (p.Ala1511=) n.400G= c.4627G= (p.Ala1543=) c.4591G= (p.Ala1531=) c.714G= n.355+816C= n.230+816C= | |
1 | g.10365565G>T | CA338322227 | KIF1B | c.4732G>T (p.Ala1578Ser) c.4594G>T (p.Ala1532Ser) c.4669G>T (p.Ala1557Ser) c.4531G>T (p.Ala1511Ser) n.400G>T c.4627G>T (p.Ala1543Ser) c.4591G>T (p.Ala1531Ser) c.714G>T n.355+816C>A n.230+816C>A | gnomAD v4 |
1 | g.10365566C>A | CA338322230 | KIF1B | c.4733C>A (p.Ala1578Asp) c.4595C>A (p.Ala1532Asp) c.4670C>A (p.Ala1557Asp) c.4532C>A (p.Ala1511Asp) n.401C>A c.4628C>A (p.Ala1543Asp) c.4592C>A (p.Ala1531Asp) c.715C>A n.355+815G>T n.230+815G>T | |
1 | g.10365566C= | CA1153161723 | KIF1B | c.4733C= (p.Ala1578=) c.4595C= (p.Ala1532=) c.4670C= (p.Ala1557=) c.4532C= (p.Ala1511=) n.401C= c.4628C= (p.Ala1543=) c.4592C= (p.Ala1531=) c.715C= n.355+815G= n.230+815G= | |
1 | g.10365566C>G | CA338322231 | KIF1B | c.4733C>G (p.Ala1578Gly) c.4595C>G (p.Ala1532Gly) c.4670C>G (p.Ala1557Gly) c.4532C>G (p.Ala1511Gly) n.401C>G c.4628C>G (p.Ala1543Gly) c.4592C>G (p.Ala1531Gly) c.715C>G n.355+815G>C n.230+815G>C | |
1 | g.10365566C>T | CA17850555 | KIF1B | c.4733C>T (p.Ala1578Val) c.4595C>T (p.Ala1532Val) c.4670C>T (p.Ala1557Val) c.4532C>T (p.Ala1511Val) n.401C>T c.4628C>T (p.Ala1543Val) c.4592C>T (p.Ala1531Val) c.715C>T n.355+815G>A n.230+815G>A | dbSNP |
1 | g.10365567C>A | CA415886396 | KIF1B | c.4734C>A (p.Ala1578=) c.4596C>A (p.Ala1532=) c.4671C>A (p.Ala1557=) c.4533C>A (p.Ala1511=) n.402C>A c.4629C>A (p.Ala1543=) c.4593C>A (p.Ala1531=) c.716C>A n.355+814G>T n.230+814G>T | |
1 | g.10365567C>G | CA415886397 | KIF1B | c.4734C>G (p.Ala1578=) c.4596C>G (p.Ala1532=) c.4671C>G (p.Ala1557=) c.4533C>G (p.Ala1511=) n.402C>G c.4629C>G (p.Ala1543=) c.4593C>G (p.Ala1531=) c.716C>G n.355+814G>C n.230+814G>C | |
1 | g.10365567C>T | CA415886398 | KIF1B | c.4734C>T (p.Ala1578=) c.4596C>T (p.Ala1532=) c.4671C>T (p.Ala1557=) c.4533C>T (p.Ala1511=) n.402C>T c.4629C>T (p.Ala1543=) c.4593C>T (p.Ala1531=) c.716C>T n.355+814G>A n.230+814G>A | ClinVar |
1 | g.10365568A>C | CA338322239 | KIF1B | c.4735A>C (p.Ile1579Leu) c.4597A>C (p.Ile1533Leu) c.4672A>C (p.Ile1558Leu) c.4534A>C (p.Ile1512Leu) n.403A>C c.4630A>C (p.Ile1544Leu) c.4594A>C (p.Ile1532Leu) c.717A>C n.355+813T>G n.230+813T>G | |
1 | g.10365568A>G | CA338322237 | KIF1B | c.4735A>G (p.Ile1579Val) c.4597A>G (p.Ile1533Val) c.4672A>G (p.Ile1558Val) c.4534A>G (p.Ile1512Val) n.403A>G c.4630A>G (p.Ile1544Val) c.4594A>G (p.Ile1532Val) c.717A>G n.355+813T>C n.230+813T>C | |
1 | g.10365568A>T | CA338322235 | KIF1B | c.4735A>T (p.Ile1579Phe) c.4597A>T (p.Ile1533Phe) c.4672A>T (p.Ile1558Phe) c.4534A>T (p.Ile1512Phe) n.403A>T c.4630A>T (p.Ile1544Phe) c.4594A>T (p.Ile1532Phe) c.717A>T n.355+813T>A n.230+813T>A | |
1 | g.10365569T>A | CA338322241 | KIF1B | c.4736T>A (p.Ile1579Asn) c.4598T>A (p.Ile1533Asn) c.4673T>A (p.Ile1558Asn) c.4535T>A (p.Ile1512Asn) n.404T>A c.4631T>A (p.Ile1544Asn) c.4595T>A (p.Ile1532Asn) c.718T>A n.355+812A>T n.230+812A>T | |
1 | g.10365569T>C | CA338322244 | KIF1B | c.4736T>C (p.Ile1579Thr) c.4598T>C (p.Ile1533Thr) c.4673T>C (p.Ile1558Thr) c.4535T>C (p.Ile1512Thr) n.404T>C c.4631T>C (p.Ile1544Thr) c.4595T>C (p.Ile1532Thr) c.718T>C n.355+812A>G n.230+812A>G | |
1 | g.10365569T>G | CA338322246 | KIF1B | c.4736T>G (p.Ile1579Ser) c.4598T>G (p.Ile1533Ser) c.4673T>G (p.Ile1558Ser) c.4535T>G (p.Ile1512Ser) n.404T>G c.4631T>G (p.Ile1544Ser) c.4595T>G (p.Ile1532Ser) c.718T>G n.355+812A>C n.230+812A>C | |
1 | g.10365570C>A | CA415886399 | KIF1B | c.4737C>A (p.Ile1579=) c.4599C>A (p.Ile1533=) c.4674C>A (p.Ile1558=) c.4536C>A (p.Ile1512=) n.405C>A c.4632C>A (p.Ile1544=) c.4596C>A (p.Ile1532=) c.719C>A n.355+811G>T n.230+811G>T | |
1 | g.10365570C= | CA1153161727 | KIF1B | c.4737C= (p.Ile1579=) c.4599C= (p.Ile1533=) c.4674C= (p.Ile1558=) c.4536C= (p.Ile1512=) n.405C= c.4632C= (p.Ile1544=) c.4596C= (p.Ile1532=) c.719C= n.355+811G= n.230+811G= | |
1 | g.10365570C>G | CA338322247 | KIF1B | c.4737C>G (p.Ile1579Met) c.4599C>G (p.Ile1533Met) c.4674C>G (p.Ile1558Met) c.4536C>G (p.Ile1512Met) n.405C>G c.4632C>G (p.Ile1544Met) c.4596C>G (p.Ile1532Met) c.719C>G n.355+811G>C n.230+811G>C | |
1 | g.10365570C>T | CA415886400 | KIF1B | c.4737C>T (p.Ile1579=) c.4599C>T (p.Ile1533=) c.4674C>T (p.Ile1558=) c.4536C>T (p.Ile1512=) n.405C>T c.4632C>T (p.Ile1544=) c.4596C>T (p.Ile1532=) c.719C>T n.355+811G>A n.230+811G>A | ClinVar dbSNP gnomAD v4 |
1 | g.10365571A>C | CA338322250 | KIF1B | c.4738A>C (p.Thr1580Pro) c.4600A>C (p.Thr1534Pro) c.4675A>C (p.Thr1559Pro) c.4537A>C (p.Thr1513Pro) n.406A>C c.4633A>C (p.Thr1545Pro) c.4597A>C (p.Thr1533Pro) c.720A>C n.355+810T>G n.230+810T>G | |
1 | g.10365571A>G | CA338322251 | KIF1B | c.4738A>G (p.Thr1580Ala) c.4600A>G (p.Thr1534Ala) c.4675A>G (p.Thr1559Ala) c.4537A>G (p.Thr1513Ala) n.406A>G c.4633A>G (p.Thr1545Ala) c.4597A>G (p.Thr1533Ala) c.720A>G n.355+810T>C n.230+810T>C | |
1 | g.10365571A>T | CA338322253 | KIF1B | c.4738A>T (p.Thr1580Ser) c.4600A>T (p.Thr1534Ser) c.4675A>T (p.Thr1559Ser) c.4537A>T (p.Thr1513Ser) n.406A>T c.4633A>T (p.Thr1545Ser) c.4597A>T (p.Thr1533Ser) c.720A>T n.355+810T>A n.230+810T>A | |
1 | g.10365572C>A | CA338322256 | KIF1B | c.4739C>A (p.Thr1580Lys) c.4601C>A (p.Thr1534Lys) c.4676C>A (p.Thr1559Lys) c.4538C>A (p.Thr1513Lys) n.407C>A c.4634C>A (p.Thr1545Lys) c.4598C>A (p.Thr1533Lys) c.721C>A n.355+809G>T n.230+809G>T | |
1 | g.10365572C>G | CA338322258 | KIF1B | c.4739C>G (p.Thr1580Arg) c.4601C>G (p.Thr1534Arg) c.4676C>G (p.Thr1559Arg) c.4538C>G (p.Thr1513Arg) n.407C>G c.4634C>G (p.Thr1545Arg) c.4598C>G (p.Thr1533Arg) c.721C>G n.355+809G>C n.230+809G>C | |
1 | g.10365572C>T | CA338322260 | KIF1B | c.4739C>T (p.Thr1580Ile) c.4601C>T (p.Thr1534Ile) c.4676C>T (p.Thr1559Ile) c.4538C>T (p.Thr1513Ile) n.407C>T c.4634C>T (p.Thr1545Ile) c.4598C>T (p.Thr1533Ile) c.721C>T n.355+809G>A n.230+809G>A | ClinVar |
1 | g.10365573A>C | CA415886401 | KIF1B | c.4740A>C (p.Thr1580=) c.4602A>C (p.Thr1534=) c.4677A>C (p.Thr1559=) c.4539A>C (p.Thr1513=) n.408A>C c.4635A>C (p.Thr1545=) c.4599A>C (p.Thr1533=) c.722A>C n.355+808T>G n.230+808T>G | |
1 | g.10365573A>G | CA415886402 | KIF1B | c.4740A>G (p.Thr1580=) c.4602A>G (p.Thr1534=) c.4677A>G (p.Thr1559=) c.4539A>G (p.Thr1513=) n.408A>G c.4635A>G (p.Thr1545=) c.4599A>G (p.Thr1533=) c.722A>G n.355+808T>C n.230+808T>C | |
1 | g.10365573A>T | CA415886403 | KIF1B | c.4740A>T (p.Thr1580=) c.4602A>T (p.Thr1534=) c.4677A>T (p.Thr1559=) c.4539A>T (p.Thr1513=) n.408A>T c.4635A>T (p.Thr1545=) c.4599A>T (p.Thr1533=) c.722A>T n.355+808T>A n.230+808T>A | |
1 | g.10365574C>A | CA338322263 | KIF1B | c.4741C>A (p.Pro1581Thr) c.4603C>A (p.Pro1535Thr) c.4678C>A (p.Pro1560Thr) c.4540C>A (p.Pro1514Thr) n.409C>A c.4636C>A (p.Pro1546Thr) c.4600C>A (p.Pro1534Thr) c.723C>A n.355+807G>T n.230+807G>T | |
1 | g.10365574C= | CA1143534783 | KIF1B | c.4741C= (p.Pro1581=) c.4603C= (p.Pro1535=) c.4678C= (p.Pro1560=) c.4540C= (p.Pro1514=) n.409C= c.4636C= (p.Pro1546=) c.4600C= (p.Pro1534=) c.723C= n.355+807G= n.230+807G= | |
1 | g.10365574C>G | CA582147 | KIF1B | c.4741C>G (p.Pro1581Ala) c.4603C>G (p.Pro1535Ala) c.4678C>G (p.Pro1560Ala) c.4540C>G (p.Pro1514Ala) n.409C>G c.4636C>G (p.Pro1546Ala) c.4600C>G (p.Pro1534Ala) c.723C>G n.355+807G>C n.230+807G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10365574C>T | CA582146 | KIF1B | c.4741C>T (p.Pro1581Ser) c.4603C>T (p.Pro1535Ser) c.4678C>T (p.Pro1560Ser) c.4540C>T (p.Pro1514Ser) n.409C>T c.4636C>T (p.Pro1546Ser) c.4600C>T (p.Pro1534Ser) c.723C>T n.355+807G>A n.230+807G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10365575C>A | CA338322272 | KIF1B | c.4742C>A (p.Pro1581His) c.4604C>A (p.Pro1535His) c.4679C>A (p.Pro1560His) c.4541C>A (p.Pro1514His) n.410C>A c.4637C>A (p.Pro1546His) c.4601C>A (p.Pro1534His) c.724C>A n.355+806G>T n.230+806G>T | |
1 | g.10365575C>G | CA338322267 | KIF1B | c.4742C>G (p.Pro1581Arg) c.4604C>G (p.Pro1535Arg) c.4679C>G (p.Pro1560Arg) c.4541C>G (p.Pro1514Arg) n.410C>G c.4637C>G (p.Pro1546Arg) c.4601C>G (p.Pro1534Arg) c.724C>G n.355+806G>C n.230+806G>C | |
1 | g.10365575C>T | CA338322270 | KIF1B | c.4742C>T (p.Pro1581Leu) c.4604C>T (p.Pro1535Leu) c.4679C>T (p.Pro1560Leu) c.4541C>T (p.Pro1514Leu) n.410C>T c.4637C>T (p.Pro1546Leu) c.4601C>T (p.Pro1534Leu) c.724C>T n.355+806G>A n.230+806G>A | |
1 | g.10365576T>A | CA415886405 | KIF1B | c.4743T>A (p.Pro1581=) c.4605T>A (p.Pro1535=) c.4680T>A (p.Pro1560=) c.4542T>A (p.Pro1514=) n.411T>A c.4638T>A (p.Pro1546=) c.4602T>A (p.Pro1534=) c.725T>A n.355+805A>T n.230+805A>T | |
1 | g.10365576T>C | CA415886406 | KIF1B | c.4743T>C (p.Pro1581=) c.4605T>C (p.Pro1535=) c.4680T>C (p.Pro1560=) c.4542T>C (p.Pro1514=) n.411T>C c.4638T>C (p.Pro1546=) c.4602T>C (p.Pro1534=) c.725T>C n.355+805A>G n.230+805A>G | ClinVar |
1 | g.10365576T>G | CA415886404 | KIF1B | c.4743T>G (p.Pro1581=) c.4605T>G (p.Pro1535=) c.4680T>G (p.Pro1560=) c.4542T>G (p.Pro1514=) n.411T>G c.4638T>G (p.Pro1546=) c.4602T>G (p.Pro1534=) c.725T>G n.355+805A>C n.230+805A>C | |
1 | g.10365577A>C | CA338322274 | KIF1B | c.4744A>C (p.Ser1582Arg) c.4606A>C (p.Ser1536Arg) c.4681A>C (p.Ser1561Arg) c.4543A>C (p.Ser1515Arg) n.412A>C c.4639A>C (p.Ser1547Arg) c.4603A>C (p.Ser1535Arg) c.726A>C n.355+804T>G n.230+804T>G | |
1 | g.10365577A>G | CA338322276 | KIF1B | c.4744A>G (p.Ser1582Gly) c.4606A>G (p.Ser1536Gly) c.4681A>G (p.Ser1561Gly) c.4543A>G (p.Ser1515Gly) n.412A>G c.4639A>G (p.Ser1547Gly) c.4603A>G (p.Ser1535Gly) c.726A>G n.355+804T>C n.230+804T>C | |
1 | g.10365577A>T | CA338322277 | KIF1B | c.4744A>T (p.Ser1582Cys) c.4606A>T (p.Ser1536Cys) c.4681A>T (p.Ser1561Cys) c.4543A>T (p.Ser1515Cys) n.412A>T c.4639A>T (p.Ser1547Cys) c.4603A>T (p.Ser1535Cys) c.726A>T n.355+804T>A n.230+804T>A | |
1 | g.10365578G>A | CA338322280 | KIF1B | c.4745G>A (p.Ser1582Asn) c.4607G>A (p.Ser1536Asn) c.4682G>A (p.Ser1561Asn) c.4544G>A (p.Ser1515Asn) n.413G>A c.4640G>A (p.Ser1547Asn) c.4604G>A (p.Ser1535Asn) c.727G>A n.355+803C>T n.230+803C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.10365578G>C | CA338322282 | KIF1B | c.4745G>C (p.Ser1582Thr) c.4607G>C (p.Ser1536Thr) c.4682G>C (p.Ser1561Thr) c.4544G>C (p.Ser1515Thr) n.413G>C c.4640G>C (p.Ser1547Thr) c.4604G>C (p.Ser1535Thr) c.727G>C n.355+803C>G n.230+803C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.10365578G= | CA1153161731 | KIF1B | c.4745G= (p.Ser1582=) c.4607G= (p.Ser1536=) c.4682G= (p.Ser1561=) c.4544G= (p.Ser1515=) n.413G= c.4640G= (p.Ser1547=) c.4604G= (p.Ser1535=) c.727G= n.355+803C= n.230+803C= |