| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.10320086C>A | CA338332332 | KIF1B | c.2021C>A (p.Thr674Asn) c.2084C>A (p.Thr695Asn) c.2159C>A (p.Thr720Asn) c.2117C>A (p.Thr706Asn) c.2081C>A (p.Thr694Asn) | |
| 1 | g.10320086C= | CA1140610130 | KIF1B | c.2021C= (p.Thr674=) c.2084C= (p.Thr695=) c.2159C= (p.Thr720=) c.2117C= (p.Thr706=) c.2081C= (p.Thr694=) | |
| 1 | g.10320086C>G | CA338332331 | KIF1B | c.2021C>G (p.Thr674Ser) c.2084C>G (p.Thr695Ser) c.2159C>G (p.Thr720Ser) c.2117C>G (p.Thr706Ser) c.2081C>G (p.Thr694Ser) | ClinVar |
| 1 | g.10320086C>T | CA581460 | KIF1B | c.2021C>T (p.Thr674Ile) c.2084C>T (p.Thr695Ile) c.2159C>T (p.Thr720Ile) c.2117C>T (p.Thr706Ile) c.2081C>T (p.Thr694Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10320087C>A | CA415881400 | KIF1B | c.2022C>A (p.Thr674=) c.2085C>A (p.Thr695=) c.2160C>A (p.Thr720=) c.2118C>A (p.Thr706=) c.2082C>A (p.Thr694=) | gnomAD v4 |
| 1 | g.10320087C>G | CA415881401 | KIF1B | c.2022C>G (p.Thr674=) c.2085C>G (p.Thr695=) c.2160C>G (p.Thr720=) c.2118C>G (p.Thr706=) c.2082C>G (p.Thr694=) | |
| 1 | g.10320087C>T | CA415881402 | KIF1B | c.2022C>T (p.Thr674=) c.2085C>T (p.Thr695=) c.2160C>T (p.Thr720=) c.2118C>T (p.Thr706=) c.2082C>T (p.Thr694=) | |
| 1 | g.10320088C>A | CA415881403 | KIF1B | c.2023C>A (p.Arg675=) c.2086C>A (p.Arg696=) c.2161C>A (p.Arg721=) c.2119C>A (p.Arg707=) c.2083C>A (p.Arg695=) | |
| 1 | g.10320088C= | CA1153153732 | KIF1B | c.2023C= (p.Arg675=) c.2086C= (p.Arg696=) c.2161C= (p.Arg721=) c.2119C= (p.Arg707=) c.2083C= (p.Arg695=) | |
| 1 | g.10320088C>G | CA338332333 | KIF1B | c.2023C>G (p.Arg675Gly) c.2086C>G (p.Arg696Gly) c.2161C>G (p.Arg721Gly) c.2119C>G (p.Arg707Gly) c.2083C>G (p.Arg695Gly) | |
| 1 | g.10320088C>T | CA338332334 | KIF1B | c.2023C>T (p.Arg675Ter) c.2086C>T (p.Arg696Ter) c.2161C>T (p.Arg721Ter) c.2119C>T (p.Arg707Ter) c.2083C>T (p.Arg695Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.10320089G>A | CA581462 | KIF1B | c.2024G>A (p.Arg675Gln) c.2087G>A (p.Arg696Gln) c.2162G>A (p.Arg721Gln) c.2120G>A (p.Arg707Gln) c.2084G>A (p.Arg695Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.10320089G>C | CA338332335 | KIF1B | c.2024G>C (p.Arg675Pro) c.2087G>C (p.Arg696Pro) c.2162G>C (p.Arg721Pro) c.2120G>C (p.Arg707Pro) c.2084G>C (p.Arg695Pro) | |
| 1 | g.10320089G= | CA1153153737 | KIF1B | c.2024G= (p.Arg675=) c.2087G= (p.Arg696=) c.2162G= (p.Arg721=) c.2120G= (p.Arg707=) c.2084G= (p.Arg695=) | |
| 1 | g.10320089G>T | CA581461 | KIF1B | c.2024G>T (p.Arg675Leu) c.2087G>T (p.Arg696Leu) c.2162G>T (p.Arg721Leu) c.2120G>T (p.Arg707Leu) c.2084G>T (p.Arg695Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.10320090A>C | CA415881404 | KIF1B | c.2025A>C (p.Arg675=) c.2088A>C (p.Arg696=) c.2163A>C (p.Arg721=) c.2121A>C (p.Arg707=) c.2085A>C (p.Arg695=) | |
| 1 | g.10320090A>G | CA415881405 | KIF1B | c.2025A>G (p.Arg675=) c.2088A>G (p.Arg696=) c.2163A>G (p.Arg721=) c.2121A>G (p.Arg707=) c.2085A>G (p.Arg695=) | |
| 1 | g.10320090A>T | CA415881406 | KIF1B | c.2025A>T (p.Arg675=) c.2088A>T (p.Arg696=) c.2163A>T (p.Arg721=) c.2121A>T (p.Arg707=) c.2085A>T (p.Arg695=) | |
| 1 | g.10320091T>A | CA338332336 | KIF1B | c.2026T>A (p.Ser676Thr) c.2089T>A (p.Ser697Thr) c.2164T>A (p.Ser722Thr) c.2122T>A (p.Ser708Thr) c.2086T>A (p.Ser696Thr) | gnomAD v4 |
| 1 | g.10320091T>C | CA338332337 | KIF1B | c.2026T>C (p.Ser676Pro) c.2089T>C (p.Ser697Pro) c.2164T>C (p.Ser722Pro) c.2122T>C (p.Ser708Pro) c.2086T>C (p.Ser696Pro) | ClinVar |
| 1 | g.10320091T>G | CA338332338 | KIF1B | c.2026T>G (p.Ser676Ala) c.2089T>G (p.Ser697Ala) c.2164T>G (p.Ser722Ala) c.2122T>G (p.Ser708Ala) c.2086T>G (p.Ser696Ala) | |
| 1 | g.10320092C>A | CA338332339 | KIF1B | c.2027C>A (p.Ser676Tyr) c.2090C>A (p.Ser697Tyr) c.2165C>A (p.Ser722Tyr) c.2123C>A (p.Ser708Tyr) c.2087C>A (p.Ser696Tyr) | |
| 1 | g.10320092C= | CA1153153743 | KIF1B | c.2027C= (p.Ser676=) c.2090C= (p.Ser697=) c.2165C= (p.Ser722=) c.2123C= (p.Ser708=) c.2087C= (p.Ser696=) | |
| 1 | g.10320092C>G | CA338332340 | KIF1B | c.2027C>G (p.Ser676Cys) c.2090C>G (p.Ser697Cys) c.2165C>G (p.Ser722Cys) c.2123C>G (p.Ser708Cys) c.2087C>G (p.Ser696Cys) | |
| 1 | g.10320092C>T | CA338332341 | KIF1B | c.2027C>T (p.Ser676Phe) c.2090C>T (p.Ser697Phe) c.2165C>T (p.Ser722Phe) c.2123C>T (p.Ser708Phe) c.2087C>T (p.Ser696Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10320093T>A | CA415881407 | KIF1B | c.2028T>A (p.Ser676=) c.2091T>A (p.Ser697=) c.2166T>A (p.Ser722=) c.2124T>A (p.Ser708=) c.2088T>A (p.Ser696=) | |
| 1 | g.10320093T>C | CA415881408 | KIF1B | c.2028T>C (p.Ser676=) c.2091T>C (p.Ser697=) c.2166T>C (p.Ser722=) c.2124T>C (p.Ser708=) c.2088T>C (p.Ser696=) | dbSNP |
| 1 | g.10320093T>G | CA415881409 | KIF1B | c.2028T>G (p.Ser676=) c.2091T>G (p.Ser697=) c.2166T>G (p.Ser722=) c.2124T>G (p.Ser708=) c.2088T>G (p.Ser696=) | |
| 1 | g.10320094C>A | CA338332343 | KIF1B | c.2029C>A (p.Leu677Met) c.2092C>A (p.Leu698Met) c.2167C>A (p.Leu723Met) c.2125C>A (p.Leu709Met) c.2089C>A (p.Leu697Met) | |
| 1 | g.10320094C>G | CA338332342 | KIF1B | c.2029C>G (p.Leu677Val) c.2092C>G (p.Leu698Val) c.2167C>G (p.Leu723Val) c.2125C>G (p.Leu709Val) c.2089C>G (p.Leu697Val) | |
| 1 | g.10320094C>T | CA415881410 | KIF1B | c.2029C>T (p.Leu677=) c.2092C>T (p.Leu698=) c.2167C>T (p.Leu723=) c.2125C>T (p.Leu709=) c.2089C>T (p.Leu697=) | ClinVar gnomAD v4 |
| 1 | g.10320095T>A | CA338332344 | KIF1B | c.2030T>A (p.Leu677Gln) c.2093T>A (p.Leu698Gln) c.2168T>A (p.Leu723Gln) c.2126T>A (p.Leu709Gln) c.2090T>A (p.Leu697Gln) | |
| 1 | g.10320095T>C | CA338332345 | KIF1B | c.2030T>C (p.Leu677Pro) c.2093T>C (p.Leu698Pro) c.2168T>C (p.Leu723Pro) c.2126T>C (p.Leu709Pro) c.2090T>C (p.Leu697Pro) | |
| 1 | g.10320095T>G | CA338332346 | KIF1B | c.2030T>G (p.Leu677Arg) c.2093T>G (p.Leu698Arg) c.2168T>G (p.Leu723Arg) c.2126T>G (p.Leu709Arg) c.2090T>G (p.Leu697Arg) | |
| 1 | g.10320096G>A | CA415881411 | KIF1B | c.2031G>A (p.Leu677=) c.2094G>A (p.Leu698=) c.2169G>A (p.Leu723=) c.2127G>A (p.Leu709=) c.2091G>A (p.Leu697=) | |
| 1 | g.10320096G>C | CA415881412 | KIF1B | c.2031G>C (p.Leu677=) c.2094G>C (p.Leu698=) c.2169G>C (p.Leu723=) c.2127G>C (p.Leu709=) c.2091G>C (p.Leu697=) | |
| 1 | g.10320096G>T | CA415881413 | KIF1B | c.2031G>T (p.Leu677=) c.2094G>T (p.Leu698=) c.2169G>T (p.Leu723=) c.2127G>T (p.Leu709=) c.2091G>T (p.Leu697=) | |
| 1 | g.10320097G>A | CA338332347 | KIF1B | c.2032G>A (p.Ala678Thr) c.2095G>A (p.Ala699Thr) c.2170G>A (p.Ala724Thr) c.2128G>A (p.Ala710Thr) c.2092G>A (p.Ala698Thr) | |
| 1 | g.10320097G>C | CA338332348 | KIF1B | c.2032G>C (p.Ala678Pro) c.2095G>C (p.Ala699Pro) c.2170G>C (p.Ala724Pro) c.2128G>C (p.Ala710Pro) c.2092G>C (p.Ala698Pro) | |
| 1 | g.10320097G>T | CA338332349 | KIF1B | c.2032G>T (p.Ala678Ser) c.2095G>T (p.Ala699Ser) c.2170G>T (p.Ala724Ser) c.2128G>T (p.Ala710Ser) c.2092G>T (p.Ala698Ser) | ClinVar |
| 1 | g.10320098C>A | CA338332350 | KIF1B | c.2033C>A (p.Ala678Asp) c.2096C>A (p.Ala699Asp) c.2171C>A (p.Ala724Asp) c.2129C>A (p.Ala710Asp) c.2093C>A (p.Ala698Asp) | dbSNP gnomAD v2 |
| 1 | g.10320098C= | CA1153153745 | KIF1B | c.2033C= (p.Ala678=) c.2096C= (p.Ala699=) c.2171C= (p.Ala724=) c.2129C= (p.Ala710=) c.2093C= (p.Ala698=) | |
| 1 | g.10320098C>G | CA338332351 | KIF1B | c.2033C>G (p.Ala678Gly) c.2096C>G (p.Ala699Gly) c.2171C>G (p.Ala724Gly) c.2129C>G (p.Ala710Gly) c.2093C>G (p.Ala698Gly) | |
| 1 | g.10320098C>T | CA338332352 | KIF1B | c.2033C>T (p.Ala678Val) c.2096C>T (p.Ala699Val) c.2171C>T (p.Ala724Val) c.2129C>T (p.Ala710Val) c.2093C>T (p.Ala698Val) | |
| 1 | g.10320099T>A | CA415881414 | KIF1B | c.2034T>A (p.Ala678=) c.2097T>A (p.Ala699=) c.2172T>A (p.Ala724=) c.2130T>A (p.Ala710=) c.2094T>A (p.Ala698=) | |
| 1 | g.10320099T>C | CA415881415 | KIF1B | c.2034T>C (p.Ala678=) c.2097T>C (p.Ala699=) c.2172T>C (p.Ala724=) c.2130T>C (p.Ala710=) c.2094T>C (p.Ala698=) | |
| 1 | g.10320099T>G | CA415881416 | KIF1B | c.2034T>G (p.Ala678=) c.2097T>G (p.Ala699=) c.2172T>G (p.Ala724=) c.2130T>G (p.Ala710=) c.2094T>G (p.Ala698=) | |
| 1 | g.10320100G>A | CA338332353 | KIF1B | c.2035G>A (p.Ala679Thr) c.2098G>A (p.Ala700Thr) c.2173G>A (p.Ala725Thr) c.2131G>A (p.Ala711Thr) c.2095G>A (p.Ala699Thr) | gnomAD v4 |
| 1 | g.10320100G>C | CA338332354 | KIF1B | c.2035G>C (p.Ala679Pro) c.2098G>C (p.Ala700Pro) c.2173G>C (p.Ala725Pro) c.2131G>C (p.Ala711Pro) c.2095G>C (p.Ala699Pro) | |
| 1 | g.10320100G>T | CA338332355 | KIF1B | c.2035G>T (p.Ala679Ser) c.2098G>T (p.Ala700Ser) c.2173G>T (p.Ala725Ser) c.2131G>T (p.Ala711Ser) c.2095G>T (p.Ala699Ser) | ClinVar |