| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.10296586C>A | CA415879992 | KIF1B | c.*816C>A (n.*816C>A) c.1644C>A (p.Ile548=) c.1707C>A (p.Ile569=) c.1782C>A (p.Ile594=) c.1740C>A (p.Ile580=) c.1704C>A (p.Ile568=) | |
| 1 | g.10296586C= | CA1153149471 | KIF1B | c.*816C= (n.*816C=) c.1644C= (p.Ile548=) c.1707C= (p.Ile569=) c.1782C= (p.Ile594=) c.1740C= (p.Ile580=) c.1704C= (p.Ile568=) | |
| 1 | g.10296586C>G | CA338315466 | KIF1B | c.*816C>G (n.*816C>G) c.1644C>G (p.Ile548Met) c.1707C>G (p.Ile569Met) c.1782C>G (p.Ile594Met) c.1740C>G (p.Ile580Met) c.1704C>G (p.Ile568Met) | |
| 1 | g.10296586C>T | CA581091 | KIF1B | c.*816C>T (n.*816C>T) c.1644C>T (p.Ile548=) c.1707C>T (p.Ile569=) c.1782C>T (p.Ile594=) c.1740C>T (p.Ile580=) c.1704C>T (p.Ile568=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.10296587G>A | CA17813566 | KIF1B | c.*817G>A (n.*817G>A) c.1645G>A (p.Val549Met) c.1708G>A (p.Val570Met) c.1783G>A (p.Val595Met) c.1741G>A (p.Val581Met) c.1705G>A (p.Val569Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10296587G>C | CA338315490 | KIF1B | c.*817G>C (n.*817G>C) c.1645G>C (p.Val549Leu) c.1708G>C (p.Val570Leu) c.1783G>C (p.Val595Leu) c.1741G>C (p.Val581Leu) c.1705G>C (p.Val569Leu) | dbSNP |
| 1 | g.10296587G= | CA1153149482 | KIF1B | c.*817G= (n.*817G=) c.1645G= (p.Val549=) c.1708G= (p.Val570=) c.1783G= (p.Val595=) c.1741G= (p.Val581=) c.1705G= (p.Val569=) | |
| 1 | g.10296587G>T | CA338315477 | KIF1B | c.*817G>T (n.*817G>T) c.1645G>T (p.Val549Leu) c.1708G>T (p.Val570Leu) c.1783G>T (p.Val595Leu) c.1741G>T (p.Val581Leu) c.1705G>T (p.Val569Leu) | gnomAD v4 |
| 1 | g.10296588T>A | CA338315491 | KIF1B | c.*818T>A (n.*818T>A) c.1646T>A (p.Val549Glu) c.1709T>A (p.Val570Glu) c.1784T>A (p.Val595Glu) c.1742T>A (p.Val581Glu) c.1706T>A (p.Val569Glu) | |
| 1 | g.10296588T>C | CA338315492 | KIF1B | c.*818T>C (n.*818T>C) c.1646T>C (p.Val549Ala) c.1709T>C (p.Val570Ala) c.1784T>C (p.Val595Ala) c.1742T>C (p.Val581Ala) c.1706T>C (p.Val569Ala) | ClinVar |
| 1 | g.10296588T>G | CA338315493 | KIF1B | c.*818T>G (n.*818T>G) c.1646T>G (p.Val549Gly) c.1709T>G (p.Val570Gly) c.1784T>G (p.Val595Gly) c.1742T>G (p.Val581Gly) c.1706T>G (p.Val569Gly) | |
| 1 | g.10296589G>A | CA415879996 | KIF1B | c.*819G>A (n.*819G>A) c.1647G>A (p.Val549=) c.1710G>A (p.Val570=) c.1785G>A (p.Val595=) c.1743G>A (p.Val581=) c.1707G>A (p.Val569=) | |
| 1 | g.10296589G>C | CA415879997 | KIF1B | c.*819G>C (n.*819G>C) c.1647G>C (p.Val549=) c.1710G>C (p.Val570=) c.1785G>C (p.Val595=) c.1743G>C (p.Val581=) c.1707G>C (p.Val569=) | |
| 1 | g.10296589G= | CA1153149488 | KIF1B | c.*819G= (n.*819G=) c.1647G= (p.Val549=) c.1710G= (p.Val570=) c.1785G= (p.Val595=) c.1743G= (p.Val581=) c.1707G= (p.Val569=) | |
| 1 | g.10296589G>T | CA415879998 | KIF1B | c.*819G>T (n.*819G>T) c.1647G>T (p.Val549=) c.1710G>T (p.Val570=) c.1785G>T (p.Val595=) c.1743G>T (p.Val581=) c.1707G>T (p.Val569=) | dbSNP gnomAD v4 |
| 1 | g.10296590A>C | CA338315495 | KIF1B | c.*820A>C (n.*820A>C) c.1648A>C (p.Thr550Pro) c.1711A>C (p.Thr571Pro) c.1786A>C (p.Thr596Pro) c.1744A>C (p.Thr582Pro) c.1708A>C (p.Thr570Pro) | |
| 1 | g.10296590A>G | CA338315497 | KIF1B | c.*820A>G (n.*820A>G) c.1648A>G (p.Thr550Ala) c.1711A>G (p.Thr571Ala) c.1786A>G (p.Thr596Ala) c.1744A>G (p.Thr582Ala) c.1708A>G (p.Thr570Ala) | ClinVar |
| 1 | g.10296590A>T | CA338315499 | KIF1B | c.*820A>T (n.*820A>T) c.1648A>T (p.Thr550Ser) c.1711A>T (p.Thr571Ser) c.1786A>T (p.Thr596Ser) c.1744A>T (p.Thr582Ser) c.1708A>T (p.Thr570Ser) | |
| 1 | g.10296591C>A | CA338315502 | KIF1B | c.*821C>A (n.*821C>A) c.1649C>A (p.Thr550Asn) c.1712C>A (p.Thr571Asn) c.1787C>A (p.Thr596Asn) c.1745C>A (p.Thr582Asn) c.1709C>A (p.Thr570Asn) | |
| 1 | g.10296591C= | CA1153149491 | KIF1B | c.*821C= (n.*821C=) c.1649C= (p.Thr550=) c.1712C= (p.Thr571=) c.1787C= (p.Thr596=) c.1745C= (p.Thr582=) c.1709C= (p.Thr570=) | |
| 1 | g.10296591C>G | CA338315507 | KIF1B | c.*821C>G (n.*821C>G) c.1649C>G (p.Thr550Ser) c.1712C>G (p.Thr571Ser) c.1787C>G (p.Thr596Ser) c.1745C>G (p.Thr582Ser) c.1709C>G (p.Thr570Ser) | |
| 1 | g.10296591C>T | CA17813567 | KIF1B | c.*821C>T (n.*821C>T) c.1649C>T (p.Thr550Ile) c.1712C>T (p.Thr571Ile) c.1787C>T (p.Thr596Ile) c.1745C>T (p.Thr582Ile) c.1709C>T (p.Thr570Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10296592C>A | CA415880001 | KIF1B | c.*822C>A (n.*822C>A) c.1650C>A (p.Thr550=) c.1713C>A (p.Thr571=) c.1788C>A (p.Thr596=) c.1746C>A (p.Thr582=) c.1710C>A (p.Thr570=) | |
| 1 | g.10296592C>G | CA415880002 | KIF1B | c.*822C>G (n.*822C>G) c.1650C>G (p.Thr550=) c.1713C>G (p.Thr571=) c.1788C>G (p.Thr596=) c.1746C>G (p.Thr582=) c.1710C>G (p.Thr570=) | |
| 1 | g.10296592C>T | CA415880003 | KIF1B | c.*822C>T (n.*822C>T) c.1650C>T (p.Thr550=) c.1713C>T (p.Thr571=) c.1788C>T (p.Thr596=) c.1746C>T (p.Thr582=) c.1710C>T (p.Thr570=) | |
| 1 | g.10296593T>A | CA338315513 | KIF1B | c.*823T>A (n.*823T>A) c.1651T>A (p.Leu551Ile) c.1714T>A (p.Leu572Ile) c.1789T>A (p.Leu597Ile) c.1747T>A (p.Leu583Ile) c.1711T>A (p.Leu571Ile) | |
| 1 | g.10296593T>C | CA415880005 | KIF1B | c.*823T>C (n.*823T>C) c.1651T>C (p.Leu551=) c.1714T>C (p.Leu572=) c.1789T>C (p.Leu597=) c.1747T>C (p.Leu583=) c.1711T>C (p.Leu571=) | |
| 1 | g.10296593T>G | CA338315515 | KIF1B | c.*823T>G (n.*823T>G) c.1651T>G (p.Leu551Val) c.1714T>G (p.Leu572Val) c.1789T>G (p.Leu597Val) c.1747T>G (p.Leu583Val) c.1711T>G (p.Leu571Val) | |
| 1 | g.10296594T>A | CA338315517 | KIF1B | c.*824T>A (n.*824T>A) c.1652T>A (p.Leu551Ter) c.1715T>A (p.Leu572Ter) c.1790T>A (p.Leu597Ter) c.1748T>A (p.Leu583Ter) c.1712T>A (p.Leu571Ter) | |
| 1 | g.10296594T>C | CA338315520 | KIF1B | c.*824T>C (n.*824T>C) c.1652T>C (p.Leu551Ser) c.1715T>C (p.Leu572Ser) c.1790T>C (p.Leu597Ser) c.1748T>C (p.Leu583Ser) c.1712T>C (p.Leu571Ser) | |
| 1 | g.10296594T>G | CA338315524 | KIF1B | c.*824T>G (n.*824T>G) c.1652T>G (p.Leu551Ter) c.1715T>G (p.Leu572Ter) c.1790T>G (p.Leu597Ter) c.1748T>G (p.Leu583Ter) c.1712T>G (p.Leu571Ter) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.10296594T= | CA1153149493 | KIF1B | c.*824T= (n.*824T=) c.1652T= (p.Leu551=) c.1715T= (p.Leu572=) c.1790T= (p.Leu597=) c.1748T= (p.Leu583=) c.1712T= (p.Leu571=) | |
| 1 | g.10296595A>C | CA338315528 | KIF1B | c.*825A>C (n.*825A>C) c.1653A>C (p.Leu551Phe) c.1716A>C (p.Leu572Phe) c.1791A>C (p.Leu597Phe) c.1749A>C (p.Leu583Phe) c.1713A>C (p.Leu571Phe) | |
| 1 | g.10296595A>G | CA415880006 | KIF1B | c.*825A>G (n.*825A>G) c.1653A>G (p.Leu551=) c.1716A>G (p.Leu572=) c.1791A>G (p.Leu597=) c.1749A>G (p.Leu583=) c.1713A>G (p.Leu571=) | |
| 1 | g.10296595A>T | CA338315529 | KIF1B | c.*825A>T (n.*825A>T) c.1653A>T (p.Leu551Phe) c.1716A>T (p.Leu572Phe) c.1791A>T (p.Leu597Phe) c.1749A>T (p.Leu583Phe) c.1713A>T (p.Leu571Phe) | |
| 1 | g.10296596G>A | CA338315530 | KIF1B | c.*826G>A (n.*826G>A) c.1654G>A (p.Glu552Lys) c.1717G>A (p.Glu573Lys) c.1792G>A (p.Glu598Lys) c.1750G>A (p.Glu584Lys) c.1714G>A (p.Glu572Lys) | |
| 1 | g.10296596G>C | CA338315531 | KIF1B | c.*826G>C (n.*826G>C) c.1654G>C (p.Glu552Gln) c.1717G>C (p.Glu573Gln) c.1792G>C (p.Glu598Gln) c.1750G>C (p.Glu584Gln) c.1714G>C (p.Glu572Gln) | |
| 1 | g.10296596G>T | CA338315532 | KIF1B | c.*826G>T (n.*826G>T) c.1654G>T (p.Glu552Ter) c.1717G>T (p.Glu573Ter) c.1792G>T (p.Glu598Ter) c.1750G>T (p.Glu584Ter) c.1714G>T (p.Glu572Ter) | |
| 1 | g.10296597A>C | CA338315537 | KIF1B | c.*827A>C (n.*827A>C) c.1655A>C (p.Glu552Ala) c.1718A>C (p.Glu573Ala) c.1793A>C (p.Glu598Ala) c.1751A>C (p.Glu584Ala) c.1715A>C (p.Glu572Ala) | |
| 1 | g.10296597A>G | CA338315536 | KIF1B | c.*827A>G (n.*827A>G) c.1655A>G (p.Glu552Gly) c.1718A>G (p.Glu573Gly) c.1793A>G (p.Glu598Gly) c.1751A>G (p.Glu584Gly) c.1715A>G (p.Glu572Gly) | |
| 1 | g.10296597A>T | CA338315534 | KIF1B | c.*827A>T (n.*827A>T) c.1655A>T (p.Glu552Val) c.1718A>T (p.Glu573Val) c.1793A>T (p.Glu598Val) c.1751A>T (p.Glu584Val) c.1715A>T (p.Glu572Val) | |
| 1 | g.10296598G>A | CA415880008 | KIF1B | c.*828G>A (n.*828G>A) c.1656G>A (p.Glu552=) c.1719G>A (p.Glu573=) c.1794G>A (p.Glu598=) c.1752G>A (p.Glu584=) c.1716G>A (p.Glu572=) | gnomAD v4 |
| 1 | g.10296598G>C | CA338315541 | KIF1B | c.*828G>C (n.*828G>C) c.1656G>C (p.Glu552Asp) c.1719G>C (p.Glu573Asp) c.1794G>C (p.Glu598Asp) c.1752G>C (p.Glu584Asp) c.1716G>C (p.Glu572Asp) | |
| 1 | g.10296598G= | CA1153149498 | KIF1B | c.*828G= (n.*828G=) c.1656G= (p.Glu552=) c.1719G= (p.Glu573=) c.1794G= (p.Glu598=) c.1752G= (p.Glu584=) c.1716G= (p.Glu572=) | |
| 1 | g.10296598G>T | CA581092 | KIF1B | c.*828G>T (n.*828G>T) c.1656G>T (p.Glu552Asp) c.1719G>T (p.Glu573Asp) c.1794G>T (p.Glu598Asp) c.1752G>T (p.Glu584Asp) c.1716G>T (p.Glu572Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.10296599C>A | CA338315547 | KIF1B | c.*829C>A (n.*829C>A) c.1657C>A (p.Pro553Thr) c.1720C>A (p.Pro574Thr) c.1795C>A (p.Pro599Thr) c.1753C>A (p.Pro585Thr) c.1717C>A (p.Pro573Thr) | COSMIC COSMIC |
| 1 | g.10296599C>G | CA338315548 | KIF1B | c.*829C>G (n.*829C>G) c.1657C>G (p.Pro553Ala) c.1720C>G (p.Pro574Ala) c.1795C>G (p.Pro599Ala) c.1753C>G (p.Pro585Ala) c.1717C>G (p.Pro573Ala) | |
| 1 | g.10296599C>T | CA338315549 | KIF1B | c.*829C>T (n.*829C>T) c.1657C>T (p.Pro553Ser) c.1720C>T (p.Pro574Ser) c.1795C>T (p.Pro599Ser) c.1753C>T (p.Pro585Ser) c.1717C>T (p.Pro573Ser) | gnomAD v4 |
| 1 | g.10296601del | CA2643178599 | KIF1B | c.*831del (n.*831del) c.1659del (p.Cys554ValfsTer8) c.1722del (p.Cys575ValfsTer8) c.1797del (p.Cys600ValfsTer8) c.1755del (p.Cys586ValfsTer8) c.1719del (p.Cys574ValfsTer8) | gnomAD v4 |
| 1 | g.10296600C>A | CA338315553 | KIF1B | c.*830C>A (n.*830C>A) c.1658C>A (p.Pro553His) c.1721C>A (p.Pro574His) c.1796C>A (p.Pro599His) c.1754C>A (p.Pro585His) c.1718C>A (p.Pro573His) |