| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.10368461_10368463del | CA2580611131 | KIF1B | c.4816-6_4816-4del (n.4816-6_4816-4del) c.4678-6_4678-4del (n.4678-6_4678-4del) c.4753-6_4753-4del (n.4753-6_4753-4del) c.4615-6_4615-4del (n.4615-6_4615-4del) n.484-6_484-4del c.4711-6_4711-4del (n.4711-6_4711-4del) c.4675-6_4675-4del (n.4675-6_4675-4del) c.798-6_798-4del | dbSNP |
| 1 | g.10368458C= | CA1144055457 | KIF1B | c.4816-9C= (n.4816-9C=) c.4678-9C= (n.4678-9C=) c.4753-9C= (n.4753-9C=) c.4615-9C= (n.4615-9C=) n.484-9C= c.4711-9C= (n.4711-9C=) c.4675-9C= (n.4675-9C=) c.798-9C= | |
| 1 | g.10368458C>G | CA2574207206 | KIF1B | c.4816-9C>G (n.4816-9C>G) c.4678-9C>G (n.4678-9C>G) c.4753-9C>G (n.4753-9C>G) c.4615-9C>G (n.4615-9C>G) n.484-9C>G c.4711-9C>G (n.4711-9C>G) c.4675-9C>G (n.4675-9C>G) c.798-9C>G | gnomAD v4 |
| 1 | g.10368458C>T | CA582173 | KIF1B | c.4816-9C>T (n.4816-9C>T) c.4678-9C>T (n.4678-9C>T) c.4753-9C>T (n.4753-9C>T) c.4615-9C>T (n.4615-9C>T) n.484-9C>T c.4711-9C>T (n.4711-9C>T) c.4675-9C>T (n.4675-9C>T) c.798-9C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10368461C>A | CA2643184698 | KIF1B | c.4816-6C>A (n.4816-6C>A) c.4678-6C>A (n.4678-6C>A) c.4753-6C>A (n.4753-6C>A) c.4615-6C>A (n.4615-6C>A) n.484-6C>A c.4711-6C>A (n.4711-6C>A) c.4675-6C>A (n.4675-6C>A) c.798-6C>A | gnomAD v4 |
| 1 | g.10368462T>C | CA2643184699 | KIF1B | c.4816-5T>C (n.4816-5T>C) c.4678-5T>C (n.4678-5T>C) c.4753-5T>C (n.4753-5T>C) c.4615-5T>C (n.4615-5T>C) n.484-5T>C c.4711-5T>C (n.4711-5T>C) c.4675-5T>C (n.4675-5T>C) c.798-5T>C | gnomAD v4 |
| 1 | g.10368463T>A | CA2573130681 | KIF1B | c.4816-4T>A (n.4816-4T>A) c.4678-4T>A (n.4678-4T>A) c.4753-4T>A (n.4753-4T>A) c.4615-4T>A (n.4615-4T>A) n.484-4T>A c.4711-4T>A (n.4711-4T>A) c.4675-4T>A (n.4675-4T>A) c.798-4T>A | ClinVar dbSNP |
| 1 | g.10368464T>C | CA884819184 | KIF1B | c.4816-3T>C (n.4816-3T>C) c.4678-3T>C (n.4678-3T>C) c.4753-3T>C (n.4753-3T>C) c.4615-3T>C (n.4615-3T>C) n.484-3T>C c.4711-3T>C (n.4711-3T>C) c.4675-3T>C (n.4675-3T>C) c.798-3T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.10368464T= | CA1153199091 | KIF1B | c.4816-3T= (n.4816-3T=) c.4678-3T= (n.4678-3T=) c.4753-3T= (n.4753-3T=) c.4615-3T= (n.4615-3T=) n.484-3T= c.4711-3T= (n.4711-3T=) c.4675-3T= (n.4675-3T=) c.798-3T= | |
| 1 | g.10368465A>C | CA338323958 | KIF1B | c.4816-2A>C (n.4816-2A>C) c.4678-2A>C (n.4678-2A>C) c.4753-2A>C (n.4753-2A>C) c.4615-2A>C (n.4615-2A>C) n.484-2A>C c.4711-2A>C (n.4711-2A>C) c.4675-2A>C (n.4675-2A>C) c.798-2A>C | |
| 1 | g.10368465A>G | CA338323957 | KIF1B | c.4816-2A>G (n.4816-2A>G) c.4678-2A>G (n.4678-2A>G) c.4753-2A>G (n.4753-2A>G) c.4615-2A>G (n.4615-2A>G) n.484-2A>G c.4711-2A>G (n.4711-2A>G) c.4675-2A>G (n.4675-2A>G) c.798-2A>G | |
| 1 | g.10368465A>T | CA338323956 | KIF1B | c.4816-2A>T (n.4816-2A>T) c.4678-2A>T (n.4678-2A>T) c.4753-2A>T (n.4753-2A>T) c.4615-2A>T (n.4615-2A>T) n.484-2A>T c.4711-2A>T (n.4711-2A>T) c.4675-2A>T (n.4675-2A>T) c.798-2A>T | |
| 1 | g.10368466G>A | CA338323960 | KIF1B | c.4816-1G>A (n.4816-1G>A) c.4678-1G>A (n.4678-1G>A) c.4753-1G>A (n.4753-1G>A) c.4615-1G>A (n.4615-1G>A) n.484-1G>A c.4711-1G>A (n.4711-1G>A) c.4675-1G>A (n.4675-1G>A) c.798-1G>A | |
| 1 | g.10368466G>C | CA338323962 | KIF1B | c.4816-1G>C (n.4816-1G>C) c.4678-1G>C (n.4678-1G>C) c.4753-1G>C (n.4753-1G>C) c.4615-1G>C (n.4615-1G>C) n.484-1G>C c.4711-1G>C (n.4711-1G>C) c.4675-1G>C (n.4675-1G>C) c.798-1G>C | |
| 1 | g.10368466G>T | CA338323965 | KIF1B | c.4816-1G>T (n.4816-1G>T) c.4678-1G>T (n.4678-1G>T) c.4753-1G>T (n.4753-1G>T) c.4615-1G>T (n.4615-1G>T) n.484-1G>T c.4711-1G>T (n.4711-1G>T) c.4675-1G>T (n.4675-1G>T) c.798-1G>T | |
| 1 | g.10368467T>A | CA338323966 | KIF1B | c.4816T>A (p.Cys1606Ser) c.4678T>A (p.Cys1560Ser) c.4753T>A (p.Cys1585Ser) c.4615T>A (p.Cys1539Ser) n.484T>A c.4711T>A (p.Cys1571Ser) c.4675T>A (p.Cys1559Ser) c.798T>A | |
| 1 | g.10368467T>C | CA338323967 | KIF1B | c.4816T>C (p.Cys1606Arg) c.4678T>C (p.Cys1560Arg) c.4753T>C (p.Cys1585Arg) c.4615T>C (p.Cys1539Arg) n.484T>C c.4711T>C (p.Cys1571Arg) c.4675T>C (p.Cys1559Arg) c.798T>C | |
| 1 | g.10368467T>G | CA338323970 | KIF1B | c.4816T>G (p.Cys1606Gly) c.4678T>G (p.Cys1560Gly) c.4753T>G (p.Cys1585Gly) c.4615T>G (p.Cys1539Gly) n.484T>G c.4711T>G (p.Cys1571Gly) c.4675T>G (p.Cys1559Gly) c.798T>G | |
| 1 | g.10368468G>A | CA338323975 | KIF1B | c.4817G>A (p.Cys1606Tyr) c.4679G>A (p.Cys1560Tyr) c.4754G>A (p.Cys1585Tyr) c.4616G>A (p.Cys1539Tyr) n.485G>A c.4712G>A (p.Cys1571Tyr) c.4676G>A (p.Cys1559Tyr) c.799G>A | gnomAD v4 |
| 1 | g.10368468G>C | CA338323978 | KIF1B | c.4817G>C (p.Cys1606Ser) c.4679G>C (p.Cys1560Ser) c.4754G>C (p.Cys1585Ser) c.4616G>C (p.Cys1539Ser) n.485G>C c.4712G>C (p.Cys1571Ser) c.4676G>C (p.Cys1559Ser) c.799G>C | |
| 1 | g.10368468G>T | CA338323982 | KIF1B | c.4817G>T (p.Cys1606Phe) c.4679G>T (p.Cys1560Phe) c.4754G>T (p.Cys1585Phe) c.4616G>T (p.Cys1539Phe) n.485G>T c.4712G>T (p.Cys1571Phe) c.4676G>T (p.Cys1559Phe) c.799G>T | |
| 1 | g.10368469C>A | CA338323988 | KIF1B | c.4818C>A (p.Cys1606Ter) c.4680C>A (p.Cys1560Ter) c.4755C>A (p.Cys1585Ter) c.4617C>A (p.Cys1539Ter) n.486C>A c.4713C>A (p.Cys1571Ter) c.4677C>A (p.Cys1559Ter) c.800C>A | |
| 1 | g.10368469C= | CA1153199092 | KIF1B | c.4818C= (p.Cys1606=) c.4680C= (p.Cys1560=) c.4755C= (p.Cys1585=) c.4617C= (p.Cys1539=) n.486C= c.4713C= (p.Cys1571=) c.4677C= (p.Cys1559=) c.800C= | |
| 1 | g.10368469C>G | CA338323996 | KIF1B | c.4818C>G (p.Cys1606Trp) c.4680C>G (p.Cys1560Trp) c.4755C>G (p.Cys1585Trp) c.4617C>G (p.Cys1539Trp) n.486C>G c.4713C>G (p.Cys1571Trp) c.4677C>G (p.Cys1559Trp) c.800C>G | dbSNP |
| 1 | g.10368469C>T | CA582174 | KIF1B | c.4818C>T (p.Cys1606=) c.4680C>T (p.Cys1560=) c.4755C>T (p.Cys1585=) c.4617C>T (p.Cys1539=) n.486C>T c.4713C>T (p.Cys1571=) c.4677C>T (p.Cys1559=) c.800C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10368470C>A | CA338324010 | KIF1B | c.4819C>A (p.Leu1607Met) c.4681C>A (p.Leu1561Met) c.4756C>A (p.Leu1586Met) c.4618C>A (p.Leu1540Met) n.487C>A c.4714C>A (p.Leu1572Met) c.4678C>A (p.Leu1560Met) c.801C>A | |
| 1 | g.10368470C>G | CA338324003 | KIF1B | c.4819C>G (p.Leu1607Val) c.4681C>G (p.Leu1561Val) c.4756C>G (p.Leu1586Val) c.4618C>G (p.Leu1540Val) n.487C>G c.4714C>G (p.Leu1572Val) c.4678C>G (p.Leu1560Val) c.801C>G | |
| 1 | g.10368470C>T | CA415886635 | KIF1B | c.4819C>T (p.Leu1607=) c.4681C>T (p.Leu1561=) c.4756C>T (p.Leu1586=) c.4618C>T (p.Leu1540=) n.487C>T c.4714C>T (p.Leu1572=) c.4678C>T (p.Leu1560=) c.801C>T | |
| 1 | g.10368471T>A | CA338324016 | KIF1B | c.4820T>A (p.Leu1607Gln) c.4682T>A (p.Leu1561Gln) c.4757T>A (p.Leu1586Gln) c.4619T>A (p.Leu1540Gln) n.488T>A c.4715T>A (p.Leu1572Gln) c.4679T>A (p.Leu1560Gln) c.802T>A | |
| 1 | g.10368471T>C | CA338324018 | KIF1B | c.4820T>C (p.Leu1607Pro) c.4682T>C (p.Leu1561Pro) c.4757T>C (p.Leu1586Pro) c.4619T>C (p.Leu1540Pro) n.488T>C c.4715T>C (p.Leu1572Pro) c.4679T>C (p.Leu1560Pro) c.802T>C | |
| 1 | g.10368471T>G | CA338324021 | KIF1B | c.4820T>G (p.Leu1607Arg) c.4682T>G (p.Leu1561Arg) c.4757T>G (p.Leu1586Arg) c.4619T>G (p.Leu1540Arg) n.488T>G c.4715T>G (p.Leu1572Arg) c.4679T>G (p.Leu1560Arg) c.802T>G | gnomAD v4 |
| 1 | g.10368472G>A | CA415886642 | KIF1B | c.4821G>A (p.Leu1607=) c.4683G>A (p.Leu1561=) c.4758G>A (p.Leu1586=) c.4620G>A (p.Leu1540=) n.489G>A c.4716G>A (p.Leu1572=) c.4680G>A (p.Leu1560=) c.803G>A | |
| 1 | g.10368472G>C | CA415886644 | KIF1B | c.4821G>C (p.Leu1607=) c.4683G>C (p.Leu1561=) c.4758G>C (p.Leu1586=) c.4620G>C (p.Leu1540=) n.489G>C c.4716G>C (p.Leu1572=) c.4680G>C (p.Leu1560=) c.803G>C | |
| 1 | g.10368472G>T | CA415886646 | KIF1B | c.4821G>T (p.Leu1607=) c.4683G>T (p.Leu1561=) c.4758G>T (p.Leu1586=) c.4620G>T (p.Leu1540=) n.489G>T c.4716G>T (p.Leu1572=) c.4680G>T (p.Leu1560=) c.803G>T | |
| 1 | g.10368473C>A | CA338324026 | KIF1B | c.4822C>A (p.Gln1608Lys) c.4684C>A (p.Gln1562Lys) c.4759C>A (p.Gln1587Lys) c.4621C>A (p.Gln1541Lys) n.490C>A c.4717C>A (p.Gln1573Lys) c.4681C>A (p.Gln1561Lys) c.804C>A | |
| 1 | g.10368473C>G | CA338324027 | KIF1B | c.4822C>G (p.Gln1608Glu) c.4684C>G (p.Gln1562Glu) c.4759C>G (p.Gln1587Glu) c.4621C>G (p.Gln1541Glu) n.490C>G c.4717C>G (p.Gln1573Glu) c.4681C>G (p.Gln1561Glu) c.804C>G | |
| 1 | g.10368473C>T | CA338324028 | KIF1B | c.4822C>T (p.Gln1608Ter) c.4684C>T (p.Gln1562Ter) c.4759C>T (p.Gln1587Ter) c.4621C>T (p.Gln1541Ter) n.490C>T c.4717C>T (p.Gln1573Ter) c.4681C>T (p.Gln1561Ter) c.804C>T | |
| 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 |