Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.10368474A>C | CA338324037 | KIF1B | c.4823A>C (p.Gln1608Pro) c.4685A>C (p.Gln1562Pro) c.4760A>C (p.Gln1587Pro) c.4622A>C (p.Gln1541Pro) n.491A>C c.4718A>C (p.Gln1573Pro) c.4682A>C (p.Gln1561Pro) c.805A>C | |
1 | g.10368474A>G | CA338324029 | KIF1B | c.4823A>G (p.Gln1608Arg) c.4685A>G (p.Gln1562Arg) c.4760A>G (p.Gln1587Arg) c.4622A>G (p.Gln1541Arg) n.491A>G c.4718A>G (p.Gln1573Arg) c.4682A>G (p.Gln1561Arg) c.805A>G | gnomAD v4 |
1 | g.10368474A>T | CA338324032 | KIF1B | c.4823A>T (p.Gln1608Leu) c.4685A>T (p.Gln1562Leu) c.4760A>T (p.Gln1587Leu) c.4622A>T (p.Gln1541Leu) n.491A>T c.4718A>T (p.Gln1573Leu) c.4682A>T (p.Gln1561Leu) c.805A>T | |
1 | g.10368475A= | CA1153199093 | KIF1B | c.4824A= (p.Gln1608=) c.4686A= (p.Gln1562=) c.4761A= (p.Gln1587=) c.4623A= (p.Gln1541=) n.492A= c.4719A= (p.Gln1573=) c.4683A= (p.Gln1561=) c.806A= | |
1 | g.10368475A>C | CA338324038 | KIF1B | c.4824A>C (p.Gln1608His) c.4686A>C (p.Gln1562His) c.4761A>C (p.Gln1587His) c.4623A>C (p.Gln1541His) n.492A>C c.4719A>C (p.Gln1573His) c.4683A>C (p.Gln1561His) c.806A>C | gnomAD v4 |
1 | g.10368475A>G | CA17852542 | KIF1B | c.4824A>G (p.Gln1608=) c.4686A>G (p.Gln1562=) c.4761A>G (p.Gln1587=) c.4623A>G (p.Gln1541=) n.492A>G c.4719A>G (p.Gln1573=) c.4683A>G (p.Gln1561=) c.806A>G | ClinVar dbSNP gnomAD v4 |
1 | g.10368475A>T | CA338324042 | KIF1B | c.4824A>T (p.Gln1608His) c.4686A>T (p.Gln1562His) c.4761A>T (p.Gln1587His) c.4623A>T (p.Gln1541His) n.492A>T c.4719A>T (p.Gln1573His) c.4683A>T (p.Gln1561His) c.806A>T | |
1 | g.10368476C>A | CA338324045 | KIF1B | c.4825C>A (p.Leu1609Ile) c.4687C>A (p.Leu1563Ile) c.4762C>A (p.Leu1588Ile) c.4624C>A (p.Leu1542Ile) n.493C>A c.4720C>A (p.Leu1574Ile) c.4684C>A (p.Leu1562Ile) c.807C>A | |
1 | g.10368476C>G | CA338324047 | KIF1B | c.4825C>G (p.Leu1609Val) c.4687C>G (p.Leu1563Val) c.4762C>G (p.Leu1588Val) c.4624C>G (p.Leu1542Val) n.493C>G c.4720C>G (p.Leu1574Val) c.4684C>G (p.Leu1562Val) c.807C>G | |
1 | g.10368476C>T | CA338324048 | KIF1B | c.4825C>T (p.Leu1609Phe) c.4687C>T (p.Leu1563Phe) c.4762C>T (p.Leu1588Phe) c.4624C>T (p.Leu1542Phe) n.493C>T c.4720C>T (p.Leu1574Phe) c.4684C>T (p.Leu1562Phe) c.807C>T | |
1 | g.10368477T>A | CA338324051 | KIF1B | c.4826T>A (p.Leu1609His) c.4688T>A (p.Leu1563His) c.4763T>A (p.Leu1588His) c.4625T>A (p.Leu1542His) n.494T>A c.4721T>A (p.Leu1574His) c.4685T>A (p.Leu1562His) c.808T>A | |
1 | g.10368477T>C | CA338324056 | KIF1B | c.4826T>C (p.Leu1609Pro) c.4688T>C (p.Leu1563Pro) c.4763T>C (p.Leu1588Pro) c.4625T>C (p.Leu1542Pro) n.494T>C c.4721T>C (p.Leu1574Pro) c.4685T>C (p.Leu1562Pro) c.808T>C | |
1 | g.10368477T>G | CA338324055 | KIF1B | c.4826T>G (p.Leu1609Arg) c.4688T>G (p.Leu1563Arg) c.4763T>G (p.Leu1588Arg) c.4625T>G (p.Leu1542Arg) n.494T>G c.4721T>G (p.Leu1574Arg) c.4685T>G (p.Leu1562Arg) c.808T>G | |
1 | g.10368477_10368480del | CA2643184700 | KIF1B | c.4826_4829del (p.Leu1609ProfsTer?) c.4688_4691del (p.Leu1563ProfsTer?) c.4763_4766del (p.Leu1588ProfsTer?) c.4625_4628del (p.Leu1542ProfsTer?) n.494_497del c.4721_4724del (p.Leu1574ProfsTer?) c.4685_4688del (p.Leu1562ProfsTer?) c.808_811del | gnomAD v4 |
1 | g.10368478T>A | CA415886664 | KIF1B | c.4827T>A (p.Leu1609=) c.4689T>A (p.Leu1563=) c.4764T>A (p.Leu1588=) c.4626T>A (p.Leu1542=) n.495T>A c.4722T>A (p.Leu1574=) c.4686T>A (p.Leu1562=) c.809T>A | |
1 | g.10368478T>C | CA415886665 | KIF1B | c.4827T>C (p.Leu1609=) c.4689T>C (p.Leu1563=) c.4764T>C (p.Leu1588=) c.4626T>C (p.Leu1542=) n.495T>C c.4722T>C (p.Leu1574=) c.4686T>C (p.Leu1562=) c.809T>C | |
1 | g.10368478T>G | CA415886668 | KIF1B | c.4827T>G (p.Leu1609=) c.4689T>G (p.Leu1563=) c.4764T>G (p.Leu1588=) c.4626T>G (p.Leu1542=) n.495T>G c.4722T>G (p.Leu1574=) c.4686T>G (p.Leu1562=) c.809T>G | |
1 | g.10368479del | CA2643184701 | KIF1B | c.4828del (p.Leu1610SerfsTer?) c.4690del (p.Leu1564SerfsTer?) c.4765del (p.Leu1589SerfsTer?) c.4627del (p.Leu1543SerfsTer?) n.496del c.4723del (p.Leu1575SerfsTer?) c.4687del (p.Leu1563SerfsTer?) c.810del | gnomAD v4 |
1 | g.10368479C>A | CA338324057 | KIF1B | c.4828C>A (p.Leu1610Ile) c.4690C>A (p.Leu1564Ile) c.4765C>A (p.Leu1589Ile) c.4627C>A (p.Leu1543Ile) n.496C>A c.4723C>A (p.Leu1575Ile) c.4687C>A (p.Leu1563Ile) c.810C>A | |
1 | g.10368479C= | CA1153199094 | KIF1B | c.4828C= (p.Leu1610=) c.4690C= (p.Leu1564=) c.4765C= (p.Leu1589=) c.4627C= (p.Leu1543=) n.496C= c.4723C= (p.Leu1575=) c.4687C= (p.Leu1563=) c.810C= | |
1 | g.10368479C>G | CA338324059 | KIF1B | c.4828C>G (p.Leu1610Val) c.4690C>G (p.Leu1564Val) c.4765C>G (p.Leu1589Val) c.4627C>G (p.Leu1543Val) n.496C>G c.4723C>G (p.Leu1575Val) c.4687C>G (p.Leu1563Val) c.810C>G | |
1 | g.10368479C>T | CA338324063 | KIF1B | c.4828C>T (p.Leu1610Phe) c.4690C>T (p.Leu1564Phe) c.4765C>T (p.Leu1589Phe) c.4627C>T (p.Leu1543Phe) n.496C>T c.4723C>T (p.Leu1575Phe) c.4687C>T (p.Leu1563Phe) c.810C>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10368480T>A | CA338324067 | KIF1B | c.4829T>A (p.Leu1610His) c.4691T>A (p.Leu1564His) c.4766T>A (p.Leu1589His) c.4628T>A (p.Leu1543His) n.497T>A c.4724T>A (p.Leu1575His) c.4688T>A (p.Leu1563His) c.811T>A | |
1 | g.10368480T>C | CA338324068 | KIF1B | c.4829T>C (p.Leu1610Pro) c.4691T>C (p.Leu1564Pro) c.4766T>C (p.Leu1589Pro) c.4628T>C (p.Leu1543Pro) n.497T>C c.4724T>C (p.Leu1575Pro) c.4688T>C (p.Leu1563Pro) c.811T>C | |
1 | g.10368480T>G | CA338324069 | KIF1B | c.4829T>G (p.Leu1610Arg) c.4691T>G (p.Leu1564Arg) c.4766T>G (p.Leu1589Arg) c.4628T>G (p.Leu1543Arg) n.497T>G c.4724T>G (p.Leu1575Arg) c.4688T>G (p.Leu1563Arg) c.811T>G | |
1 | g.10368481C>A | CA415886678 | KIF1B | c.4830C>A (p.Leu1610=) c.4692C>A (p.Leu1564=) c.4767C>A (p.Leu1589=) c.4629C>A (p.Leu1543=) n.498C>A c.4725C>A (p.Leu1575=) c.4689C>A (p.Leu1563=) c.812C>A | |
1 | g.10368481C>G | CA415886682 | KIF1B | c.4830C>G (p.Leu1610=) c.4692C>G (p.Leu1564=) c.4767C>G (p.Leu1589=) c.4629C>G (p.Leu1543=) n.498C>G c.4725C>G (p.Leu1575=) c.4689C>G (p.Leu1563=) c.812C>G | |
1 | g.10368481C>T | CA415886679 | KIF1B | c.4830C>T (p.Leu1610=) c.4692C>T (p.Leu1564=) c.4767C>T (p.Leu1589=) c.4629C>T (p.Leu1543=) n.498C>T c.4725C>T (p.Leu1575=) c.4689C>T (p.Leu1563=) c.812C>T | |
1 | g.10368482A>C | CA338324072 | KIF1B | c.4831A>C (p.Thr1611Pro) c.4693A>C (p.Thr1565Pro) c.4768A>C (p.Thr1590Pro) c.4630A>C (p.Thr1544Pro) n.499A>C c.4726A>C (p.Thr1576Pro) c.4690A>C (p.Thr1564Pro) c.813A>C | |
1 | g.10368482A>G | CA338324075 | KIF1B | c.4831A>G (p.Thr1611Ala) c.4693A>G (p.Thr1565Ala) c.4768A>G (p.Thr1590Ala) c.4630A>G (p.Thr1544Ala) n.499A>G c.4726A>G (p.Thr1576Ala) c.4690A>G (p.Thr1564Ala) c.813A>G | |
1 | g.10368482A>T | CA338324078 | KIF1B | c.4831A>T (p.Thr1611Ser) c.4693A>T (p.Thr1565Ser) c.4768A>T (p.Thr1590Ser) c.4630A>T (p.Thr1544Ser) n.499A>T c.4726A>T (p.Thr1576Ser) c.4690A>T (p.Thr1564Ser) c.813A>T | |
1 | g.10368483C>A | CA338324083 | KIF1B | c.4832C>A (p.Thr1611Asn) c.4694C>A (p.Thr1565Asn) c.4769C>A (p.Thr1590Asn) c.4631C>A (p.Thr1544Asn) n.500C>A c.4727C>A (p.Thr1576Asn) c.4691C>A (p.Thr1564Asn) c.814C>A | |
1 | g.10368483C= | CA1153199095 | KIF1B | c.4832C= (p.Thr1611=) c.4694C= (p.Thr1565=) c.4769C= (p.Thr1590=) c.4631C= (p.Thr1544=) n.500C= c.4727C= (p.Thr1576=) c.4691C= (p.Thr1564=) c.814C= | |
1 | g.10368483C>G | CA338324088 | KIF1B | c.4832C>G (p.Thr1611Ser) c.4694C>G (p.Thr1565Ser) c.4769C>G (p.Thr1590Ser) c.4631C>G (p.Thr1544Ser) n.500C>G c.4727C>G (p.Thr1576Ser) c.4691C>G (p.Thr1564Ser) c.814C>G | |
1 | g.10368483C>T | CA17852551 | KIF1B | c.4832C>T (p.Thr1611Ile) c.4694C>T (p.Thr1565Ile) c.4769C>T (p.Thr1590Ile) c.4631C>T (p.Thr1544Ile) n.500C>T c.4727C>T (p.Thr1576Ile) c.4691C>T (p.Thr1564Ile) c.814C>T | dbSNP |
1 | g.10368484C>A | CA415886692 | KIF1B | c.4833C>A (p.Thr1611=) c.4695C>A (p.Thr1565=) c.4770C>A (p.Thr1590=) c.4632C>A (p.Thr1544=) n.501C>A c.4728C>A (p.Thr1576=) c.4692C>A (p.Thr1564=) c.815C>A | |
1 | g.10368484C>G | CA415886694 | KIF1B | c.4833C>G (p.Thr1611=) c.4695C>G (p.Thr1565=) c.4770C>G (p.Thr1590=) c.4632C>G (p.Thr1544=) n.501C>G c.4728C>G (p.Thr1576=) c.4692C>G (p.Thr1564=) c.815C>G | |
1 | g.10368484C>T | CA415886696 | KIF1B | c.4833C>T (p.Thr1611=) c.4695C>T (p.Thr1565=) c.4770C>T (p.Thr1590=) c.4632C>T (p.Thr1544=) n.501C>T c.4728C>T (p.Thr1576=) c.4692C>T (p.Thr1564=) c.815C>T | |
1 | g.10368485C>A | CA338324096 | KIF1B | c.4834C>A (p.His1612Asn) c.4696C>A (p.His1566Asn) c.4771C>A (p.His1591Asn) c.4633C>A (p.His1545Asn) n.502C>A c.4729C>A (p.His1577Asn) c.4693C>A (p.His1565Asn) c.816C>A | |
1 | g.10368485C= | CA1153199096 | KIF1B | c.4834C= (p.His1612=) c.4696C= (p.His1566=) c.4771C= (p.His1591=) c.4633C= (p.His1545=) n.502C= c.4729C= (p.His1577=) c.4693C= (p.His1565=) c.816C= | |
1 | g.10368485C>G | CA338324095 | KIF1B | c.4834C>G (p.His1612Asp) c.4696C>G (p.His1566Asp) c.4771C>G (p.His1591Asp) c.4633C>G (p.His1545Asp) n.502C>G c.4729C>G (p.His1577Asp) c.4693C>G (p.His1565Asp) c.816C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10368485C>T | CA338324094 | KIF1B | c.4834C>T (p.His1612Tyr) c.4696C>T (p.His1566Tyr) c.4771C>T (p.His1591Tyr) c.4633C>T (p.His1545Tyr) n.502C>T c.4729C>T (p.His1577Tyr) c.4693C>T (p.His1565Tyr) c.816C>T | |
1 | g.10368486A= | CA1153199097 | KIF1B | c.4835A= (p.His1612=) c.4697A= (p.His1566=) c.4772A= (p.His1591=) c.4634A= (p.His1545=) n.503A= c.4730A= (p.His1577=) c.4694A= (p.His1565=) c.817A= | |
1 | g.10368486A>C | CA338324100 | KIF1B | c.4835A>C (p.His1612Pro) c.4697A>C (p.His1566Pro) c.4772A>C (p.His1591Pro) c.4634A>C (p.His1545Pro) n.503A>C c.4730A>C (p.His1577Pro) c.4694A>C (p.His1565Pro) c.817A>C | |
1 | g.10368486A>G | CA338324099 | KIF1B | c.4835A>G (p.His1612Arg) c.4697A>G (p.His1566Arg) c.4772A>G (p.His1591Arg) c.4634A>G (p.His1545Arg) n.503A>G c.4730A>G (p.His1577Arg) c.4694A>G (p.His1565Arg) c.817A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10368486A>T | CA338324101 | KIF1B | c.4835A>T (p.His1612Leu) c.4697A>T (p.His1566Leu) c.4772A>T (p.His1591Leu) c.4634A>T (p.His1545Leu) n.503A>T c.4730A>T (p.His1577Leu) c.4694A>T (p.His1565Leu) c.817A>T | ClinVar |
1 | g.10368487C>A | CA338324103 | KIF1B | c.4836C>A (p.His1612Gln) c.4698C>A (p.His1566Gln) c.4773C>A (p.His1591Gln) c.4635C>A (p.His1545Gln) n.504C>A c.4731C>A (p.His1577Gln) c.4695C>A (p.His1565Gln) c.818C>A | |
1 | g.10368487C>G | CA338324104 | KIF1B | c.4836C>G (p.His1612Gln) c.4698C>G (p.His1566Gln) c.4773C>G (p.His1591Gln) c.4635C>G (p.His1545Gln) n.504C>G c.4731C>G (p.His1577Gln) c.4695C>G (p.His1565Gln) c.818C>G | |
1 | g.10368487C>T | CA415886706 | KIF1B | c.4836C>T (p.His1612=) c.4698C>T (p.His1566=) c.4773C>T (p.His1591=) c.4635C>T (p.His1545=) n.504C>T c.4731C>T (p.His1577=) c.4695C>T (p.His1565=) c.818C>T | ClinVar gnomAD v4 |
1 | g.10368488A= | CA1153199098 | KIF1B | c.4837A= (p.Thr1613=) c.4699A= (p.Thr1567=) c.4774A= (p.Thr1592=) c.4636A= (p.Thr1546=) n.505A= c.4732A= (p.Thr1578=) c.4696A= (p.Thr1566=) c.819A= |