| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.10365464C>A | CA338321878 | KIF1B | c.4631C>A (p.Pro1544His) c.4493C>A (p.Pro1498His) c.4568C>A (p.Pro1523His) c.4430C>A (p.Pro1477His) n.299C>A c.4526C>A (p.Pro1509His) c.4490C>A (p.Pro1497His) c.613C>A n.355+917G>T n.230+917G>T | |
| 1 | g.10365464C>G | CA338321891 | KIF1B | c.4631C>G (p.Pro1544Arg) c.4493C>G (p.Pro1498Arg) c.4568C>G (p.Pro1523Arg) c.4430C>G (p.Pro1477Arg) n.299C>G c.4526C>G (p.Pro1509Arg) c.4490C>G (p.Pro1497Arg) c.613C>G n.355+917G>C n.230+917G>C | |
| 1 | g.10365464C>T | CA338321892 | KIF1B | c.4631C>T (p.Pro1544Leu) c.4493C>T (p.Pro1498Leu) c.4568C>T (p.Pro1523Leu) c.4430C>T (p.Pro1477Leu) n.299C>T c.4526C>T (p.Pro1509Leu) c.4490C>T (p.Pro1497Leu) c.613C>T n.355+917G>A n.230+917G>A | |
| 1 | g.10365465C>A | CA415886299 | KIF1B | c.4632C>A (p.Pro1544=) c.4494C>A (p.Pro1498=) c.4569C>A (p.Pro1523=) c.4431C>A (p.Pro1477=) n.300C>A c.4527C>A (p.Pro1509=) c.4491C>A (p.Pro1497=) c.614C>A n.355+916G>T n.230+916G>T | ClinVar |
| 1 | g.10365465C>G | CA415886298 | KIF1B | c.4632C>G (p.Pro1544=) c.4494C>G (p.Pro1498=) c.4569C>G (p.Pro1523=) c.4431C>G (p.Pro1477=) n.300C>G c.4527C>G (p.Pro1509=) c.4491C>G (p.Pro1497=) c.614C>G n.355+916G>C n.230+916G>C | |
| 1 | g.10365465C>T | CA415886297 | KIF1B | c.4632C>T (p.Pro1544=) c.4494C>T (p.Pro1498=) c.4569C>T (p.Pro1523=) c.4431C>T (p.Pro1477=) n.300C>T c.4527C>T (p.Pro1509=) c.4491C>T (p.Pro1497=) c.614C>T n.355+916G>A n.230+916G>A | |
| 1 | g.10365466A>C | CA338321895 | KIF1B | c.4633A>C (p.Lys1545Gln) c.4495A>C (p.Lys1499Gln) c.4570A>C (p.Lys1524Gln) c.4432A>C (p.Lys1478Gln) n.301A>C c.4528A>C (p.Lys1510Gln) c.4492A>C (p.Lys1498Gln) c.615A>C n.355+915T>G n.230+915T>G | |
| 1 | g.10365466A>G | CA338321897 | KIF1B | c.4633A>G (p.Lys1545Glu) c.4495A>G (p.Lys1499Glu) c.4570A>G (p.Lys1524Glu) c.4432A>G (p.Lys1478Glu) n.301A>G c.4528A>G (p.Lys1510Glu) c.4492A>G (p.Lys1498Glu) c.615A>G n.355+915T>C n.230+915T>C | ClinVar dbSNP |
| 1 | g.10365466A>T | CA338321899 | KIF1B | c.4633A>T (p.Lys1545Ter) c.4495A>T (p.Lys1499Ter) c.4570A>T (p.Lys1524Ter) c.4432A>T (p.Lys1478Ter) n.301A>T c.4528A>T (p.Lys1510Ter) c.4492A>T (p.Lys1498Ter) c.615A>T n.355+915T>A n.230+915T>A | |
| 1 | g.10365467A>C | CA338321900 | KIF1B | c.4634A>C (p.Lys1545Thr) c.4496A>C (p.Lys1499Thr) c.4571A>C (p.Lys1524Thr) c.4433A>C (p.Lys1478Thr) n.302A>C c.4529A>C (p.Lys1510Thr) c.4493A>C (p.Lys1498Thr) c.616A>C n.355+914T>G n.230+914T>G | |
| 1 | g.10365467A>G | CA338321903 | KIF1B | c.4634A>G (p.Lys1545Arg) c.4496A>G (p.Lys1499Arg) c.4571A>G (p.Lys1524Arg) c.4433A>G (p.Lys1478Arg) n.302A>G c.4529A>G (p.Lys1510Arg) c.4493A>G (p.Lys1498Arg) c.616A>G n.355+914T>C n.230+914T>C | gnomAD v4 |
| 1 | g.10365467A>T | CA338321905 | KIF1B | c.4634A>T (p.Lys1545Ile) c.4496A>T (p.Lys1499Ile) c.4571A>T (p.Lys1524Ile) c.4433A>T (p.Lys1478Ile) n.302A>T c.4529A>T (p.Lys1510Ile) c.4493A>T (p.Lys1498Ile) c.616A>T n.355+914T>A n.230+914T>A | |
| 1 | g.10365468A= | CA1153161479 | KIF1B | c.4635A= (p.Lys1545=) c.4497A= (p.Lys1499=) c.4572A= (p.Lys1524=) c.4434A= (p.Lys1478=) n.303A= c.4530A= (p.Lys1510=) c.4494A= (p.Lys1498=) c.617A= n.355+913T= n.230+913T= | |
| 1 | g.10365468A>C | CA338321915 | KIF1B | c.4635A>C (p.Lys1545Asn) c.4497A>C (p.Lys1499Asn) c.4572A>C (p.Lys1524Asn) c.4434A>C (p.Lys1478Asn) n.303A>C c.4530A>C (p.Lys1510Asn) c.4494A>C (p.Lys1498Asn) c.617A>C n.355+913T>G n.230+913T>G | |
| 1 | g.10365468A>G | CA415886301 | KIF1B | c.4635A>G (p.Lys1545=) c.4497A>G (p.Lys1499=) c.4572A>G (p.Lys1524=) c.4434A>G (p.Lys1478=) n.303A>G c.4530A>G (p.Lys1510=) c.4494A>G (p.Lys1498=) c.617A>G n.355+913T>C n.230+913T>C | dbSNP |
| 1 | g.10365468A>T | CA338321908 | KIF1B | c.4635A>T (p.Lys1545Asn) c.4497A>T (p.Lys1499Asn) c.4572A>T (p.Lys1524Asn) c.4434A>T (p.Lys1478Asn) n.303A>T c.4530A>T (p.Lys1510Asn) c.4494A>T (p.Lys1498Asn) c.617A>T n.355+913T>A n.230+913T>A | |
| 1 | g.10365469T>A | CA338321919 | KIF1B | c.4636T>A (p.Ser1546Thr) c.4498T>A (p.Ser1500Thr) c.4573T>A (p.Ser1525Thr) c.4435T>A (p.Ser1479Thr) n.304T>A c.4531T>A (p.Ser1511Thr) c.4495T>A (p.Ser1499Thr) c.618T>A n.355+912A>T n.230+912A>T | |
| 1 | g.10365469T>C | CA338321921 | KIF1B | c.4636T>C (p.Ser1546Pro) c.4498T>C (p.Ser1500Pro) c.4573T>C (p.Ser1525Pro) c.4435T>C (p.Ser1479Pro) n.304T>C c.4531T>C (p.Ser1511Pro) c.4495T>C (p.Ser1499Pro) c.618T>C n.355+912A>G n.230+912A>G | |
| 1 | g.10365469T>G | CA338321923 | KIF1B | c.4636T>G (p.Ser1546Ala) c.4498T>G (p.Ser1500Ala) c.4573T>G (p.Ser1525Ala) c.4435T>G (p.Ser1479Ala) n.304T>G c.4531T>G (p.Ser1511Ala) c.4495T>G (p.Ser1499Ala) c.618T>G n.355+912A>C n.230+912A>C | gnomAD v4 |
| 1 | g.10365470C>A | CA582126 | KIF1B | c.4637C>A (p.Ser1546Tyr) c.4499C>A (p.Ser1500Tyr) c.4574C>A (p.Ser1525Tyr) c.4436C>A (p.Ser1479Tyr) n.305C>A c.4532C>A (p.Ser1511Tyr) c.4496C>A (p.Ser1499Tyr) c.619C>A n.355+911G>T n.230+911G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10365470C= | CA1153161493 | KIF1B | c.4637C= (p.Ser1546=) c.4499C= (p.Ser1500=) c.4574C= (p.Ser1525=) c.4436C= (p.Ser1479=) n.305C= c.4532C= (p.Ser1511=) c.4496C= (p.Ser1499=) c.619C= n.355+911G= n.230+911G= | |
| 1 | g.10365470C>G | CA338321928 | KIF1B | c.4637C>G (p.Ser1546Cys) c.4499C>G (p.Ser1500Cys) c.4574C>G (p.Ser1525Cys) c.4436C>G (p.Ser1479Cys) n.305C>G c.4532C>G (p.Ser1511Cys) c.4496C>G (p.Ser1499Cys) c.619C>G n.355+911G>C n.230+911G>C | |
| 1 | g.10365470C>T | CA582125 | KIF1B | c.4637C>T (p.Ser1546Phe) c.4499C>T (p.Ser1500Phe) c.4574C>T (p.Ser1525Phe) c.4436C>T (p.Ser1479Phe) n.305C>T c.4532C>T (p.Ser1511Phe) c.4496C>T (p.Ser1499Phe) c.619C>T n.355+911G>A n.230+911G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.10365470_10365471delinsAT | CA915940876 | KIF1B | c.4637_4638delinsAT (p.Ser1546Tyr) c.4499_4500delinsAT (p.Ser1500Tyr) c.4574_4575delinsAT (p.Ser1525Tyr) c.4436_4437delinsAT (p.Ser1479Tyr) n.305_306delinsAT c.4532_4533delinsAT (p.Ser1511Tyr) c.4496_4497delinsAT (p.Ser1499Tyr) c.619_620delinsAT n.355+910_355+911delinsAT n.230+910_230+911delinsAT | ClinVar dbSNP |
| 1 | g.10365470_10365471delinsCC | CA1153161521 | KIF1B | c.4637_4638delinsCC (p.Ser1546=) c.4499_4500delinsCC (p.Ser1500=) c.4574_4575delinsCC (p.Ser1525=) c.4436_4437delinsCC (p.Ser1479=) n.305_306delinsCC c.4532_4533delinsCC (p.Ser1511=) c.4496_4497delinsCC (p.Ser1499=) c.619_620delinsCC n.355+910_355+911delinsGG n.230+910_230+911delinsGG | |
| 1 | g.10365471C>A | CA415886302 | KIF1B | c.4638C>A (p.Ser1546=) c.4500C>A (p.Ser1500=) c.4575C>A (p.Ser1525=) c.4437C>A (p.Ser1479=) n.306C>A c.4533C>A (p.Ser1511=) c.4497C>A (p.Ser1499=) c.620C>A n.355+910G>T n.230+910G>T | |
| 1 | g.10365471C= | CA1153161527 | KIF1B | c.4638C= (p.Ser1546=) c.4500C= (p.Ser1500=) c.4575C= (p.Ser1525=) c.4437C= (p.Ser1479=) n.306C= c.4533C= (p.Ser1511=) c.4497C= (p.Ser1499=) c.620C= n.355+910G= n.230+910G= | |
| 1 | g.10365471C>G | CA415886304 | KIF1B | c.4638C>G (p.Ser1546=) c.4500C>G (p.Ser1500=) c.4575C>G (p.Ser1525=) c.4437C>G (p.Ser1479=) n.306C>G c.4533C>G (p.Ser1511=) c.4497C>G (p.Ser1499=) c.620C>G n.355+910G>C n.230+910G>C | |
| 1 | g.10365471C>T | CA582127 | KIF1B | c.4638C>T (p.Ser1546=) c.4500C>T (p.Ser1500=) c.4575C>T (p.Ser1525=) c.4437C>T (p.Ser1479=) n.306C>T c.4533C>T (p.Ser1511=) c.4497C>T (p.Ser1499=) c.620C>T n.355+910G>A n.230+910G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10365472C>A | CA338321934 | KIF1B | c.4639C>A (p.Leu1547Met) c.4501C>A (p.Leu1501Met) c.4576C>A (p.Leu1526Met) c.4438C>A (p.Leu1480Met) n.307C>A c.4534C>A (p.Leu1512Met) c.4498C>A (p.Leu1500Met) c.621C>A n.355+909G>T n.230+909G>T | |
| 1 | g.10365472C>G | CA338321936 | KIF1B | c.4639C>G (p.Leu1547Val) c.4501C>G (p.Leu1501Val) c.4576C>G (p.Leu1526Val) c.4438C>G (p.Leu1480Val) n.307C>G c.4534C>G (p.Leu1512Val) c.4498C>G (p.Leu1500Val) c.621C>G n.355+909G>C n.230+909G>C | |
| 1 | g.10365472C>T | CA415886305 | KIF1B | c.4639C>T (p.Leu1547=) c.4501C>T (p.Leu1501=) c.4576C>T (p.Leu1526=) c.4438C>T (p.Leu1480=) n.307C>T c.4534C>T (p.Leu1512=) c.4498C>T (p.Leu1500=) c.621C>T n.355+909G>A n.230+909G>A | |
| 1 | g.10365473T>A | CA338321940 | KIF1B | c.4640T>A (p.Leu1547Gln) c.4502T>A (p.Leu1501Gln) c.4577T>A (p.Leu1526Gln) c.4439T>A (p.Leu1480Gln) n.308T>A c.4535T>A (p.Leu1512Gln) c.4499T>A (p.Leu1500Gln) c.622T>A n.355+908A>T n.230+908A>T | |
| 1 | g.10365473T>C | CA338321942 | KIF1B | c.4640T>C (p.Leu1547Pro) c.4502T>C (p.Leu1501Pro) c.4577T>C (p.Leu1526Pro) c.4439T>C (p.Leu1480Pro) n.308T>C c.4535T>C (p.Leu1512Pro) c.4499T>C (p.Leu1500Pro) c.622T>C n.355+908A>G n.230+908A>G | ClinVar gnomAD v4 COSMIC |
| 1 | g.10365473T>G | CA338321944 | KIF1B | c.4640T>G (p.Leu1547Arg) c.4502T>G (p.Leu1501Arg) c.4577T>G (p.Leu1526Arg) c.4439T>G (p.Leu1480Arg) n.308T>G c.4535T>G (p.Leu1512Arg) c.4499T>G (p.Leu1500Arg) c.622T>G n.355+908A>C n.230+908A>C | |
| 1 | g.10365474G>A | CA415886306 | KIF1B | c.4641G>A (p.Leu1547=) c.4503G>A (p.Leu1501=) c.4578G>A (p.Leu1526=) c.4440G>A (p.Leu1480=) n.309G>A c.4536G>A (p.Leu1512=) c.4500G>A (p.Leu1500=) c.623G>A n.355+907C>T n.230+907C>T | gnomAD v4 COSMIC |
| 1 | g.10365474G>C | CA415886307 | KIF1B | c.4641G>C (p.Leu1547=) c.4503G>C (p.Leu1501=) c.4578G>C (p.Leu1526=) c.4440G>C (p.Leu1480=) n.309G>C c.4536G>C (p.Leu1512=) c.4500G>C (p.Leu1500=) c.623G>C n.355+907C>G n.230+907C>G | |
| 1 | g.10365474G>T | CA415886308 | KIF1B | c.4641G>T (p.Leu1547=) c.4503G>T (p.Leu1501=) c.4578G>T (p.Leu1526=) c.4440G>T (p.Leu1480=) n.309G>T c.4536G>T (p.Leu1512=) c.4500G>T (p.Leu1500=) c.623G>T n.355+907C>A n.230+907C>A | |
| 1 | g.10365475A= | CA1153161533 | KIF1B | c.4642A= (p.Ser1548=) c.4504A= (p.Ser1502=) c.4579A= (p.Ser1527=) c.4441A= (p.Ser1481=) n.310A= c.4537A= (p.Ser1513=) c.4501A= (p.Ser1501=) c.624A= n.355+906T= n.230+906T= | |
| 1 | g.10365475A>C | CA338321948 | KIF1B | c.4642A>C (p.Ser1548Arg) c.4504A>C (p.Ser1502Arg) c.4579A>C (p.Ser1527Arg) c.4441A>C (p.Ser1481Arg) n.310A>C c.4537A>C (p.Ser1513Arg) c.4501A>C (p.Ser1501Arg) c.624A>C n.355+906T>G n.230+906T>G | |
| 1 | g.10365475A>G | CA582128 | KIF1B | c.4642A>G (p.Ser1548Gly) c.4504A>G (p.Ser1502Gly) c.4579A>G (p.Ser1527Gly) c.4441A>G (p.Ser1481Gly) n.310A>G c.4537A>G (p.Ser1513Gly) c.4501A>G (p.Ser1501Gly) c.624A>G n.355+906T>C n.230+906T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.10365475A>T | CA338321947 | KIF1B | c.4642A>T (p.Ser1548Cys) c.4504A>T (p.Ser1502Cys) c.4579A>T (p.Ser1527Cys) c.4441A>T (p.Ser1481Cys) n.310A>T c.4537A>T (p.Ser1513Cys) c.4501A>T (p.Ser1501Cys) c.624A>T n.355+906T>A n.230+906T>A | |
| 1 | g.10365476G>A | CA116996 | KIF1B | c.4643G>A (p.Ser1548Asn) c.4505G>A (p.Ser1502Asn) c.4580G>A (p.Ser1527Asn) c.4442G>A (p.Ser1481Asn) n.311G>A c.4538G>A (p.Ser1513Asn) c.4502G>A (p.Ser1501Asn) c.625G>A n.355+905C>T n.230+905C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10365476G>C | CA338321953 | KIF1B | c.4643G>C (p.Ser1548Thr) c.4505G>C (p.Ser1502Thr) c.4580G>C (p.Ser1527Thr) c.4442G>C (p.Ser1481Thr) n.311G>C c.4538G>C (p.Ser1513Thr) c.4502G>C (p.Ser1501Thr) c.625G>C n.355+905C>G n.230+905C>G | |
| 1 | g.10365476G= | CA1141580572 | KIF1B | c.4643G= (p.Ser1548=) c.4505G= (p.Ser1502=) c.4580G= (p.Ser1527=) c.4442G= (p.Ser1481=) n.311G= c.4538G= (p.Ser1513=) c.4502G= (p.Ser1501=) c.625G= n.355+905C= n.230+905C= | |
| 1 | g.10365476G>T | CA338321954 | KIF1B | c.4643G>T (p.Ser1548Ile) c.4505G>T (p.Ser1502Ile) c.4580G>T (p.Ser1527Ile) c.4442G>T (p.Ser1481Ile) n.311G>T c.4538G>T (p.Ser1513Ile) c.4502G>T (p.Ser1501Ile) c.625G>T n.355+905C>A n.230+905C>A | |
| 1 | g.10365477C>A | CA338321957 | KIF1B | c.4644C>A (p.Ser1548Arg) c.4506C>A (p.Ser1502Arg) c.4581C>A (p.Ser1527Arg) c.4443C>A (p.Ser1481Arg) n.312C>A c.4539C>A (p.Ser1513Arg) c.4503C>A (p.Ser1501Arg) c.626C>A n.355+904G>T n.230+904G>T | |
| 1 | g.10365477C= | CA1153161535 | KIF1B | c.4644C= (p.Ser1548=) c.4506C= (p.Ser1502=) c.4581C= (p.Ser1527=) c.4443C= (p.Ser1481=) n.312C= c.4539C= (p.Ser1513=) c.4503C= (p.Ser1501=) c.626C= n.355+904G= n.230+904G= | |
| 1 | g.10365477C>G | CA338321959 | KIF1B | c.4644C>G (p.Ser1548Arg) c.4506C>G (p.Ser1502Arg) c.4581C>G (p.Ser1527Arg) c.4443C>G (p.Ser1481Arg) n.312C>G c.4539C>G (p.Ser1513Arg) c.4503C>G (p.Ser1501Arg) c.626C>G n.355+904G>C n.230+904G>C | |
| 1 | g.10365477C>T | CA582129 | KIF1B | c.4644C>T (p.Ser1548=) c.4506C>T (p.Ser1502=) c.4581C>T (p.Ser1527=) c.4443C>T (p.Ser1481=) n.312C>T c.4539C>T (p.Ser1513=) c.4503C>T (p.Ser1501=) c.626C>T n.355+904G>A n.230+904G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |