Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
1 | g.10320101C>A | CA338332356 | KIF1B | c.2036C>A (p.Ala679Glu) c.2099C>A (p.Ala700Glu) c.2174C>A (p.Ala725Glu) c.2132C>A (p.Ala711Glu) c.2096C>A (p.Ala699Glu) | |
1 | g.10320101C= | CA1153153751 | KIF1B | c.2036C= (p.Ala679=) c.2099C= (p.Ala700=) c.2174C= (p.Ala725=) c.2132C= (p.Ala711=) c.2096C= (p.Ala699=) | |
1 | g.10320101C>G | CA338332357 | KIF1B | c.2036C>G (p.Ala679Gly) c.2099C>G (p.Ala700Gly) c.2174C>G (p.Ala725Gly) c.2132C>G (p.Ala711Gly) c.2096C>G (p.Ala699Gly) | |
1 | g.10320101C>T | CA581463 | KIF1B | c.2036C>T (p.Ala679Val) c.2099C>T (p.Ala700Val) c.2174C>T (p.Ala725Val) c.2132C>T (p.Ala711Val) c.2096C>T (p.Ala699Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10320102A>C | CA415881419 | KIF1B | c.2037A>C (p.Ala679=) c.2100A>C (p.Ala700=) c.2175A>C (p.Ala725=) c.2133A>C (p.Ala711=) c.2097A>C (p.Ala699=) | |
1 | g.10320102A>G | CA415881418 | KIF1B | c.2037A>G (p.Ala679=) c.2100A>G (p.Ala700=) c.2175A>G (p.Ala725=) c.2133A>G (p.Ala711=) c.2097A>G (p.Ala699=) | ClinVar |
1 | g.10320102A>T | CA415881417 | KIF1B | c.2037A>T (p.Ala679=) c.2100A>T (p.Ala700=) c.2175A>T (p.Ala725=) c.2133A>T (p.Ala711=) c.2097A>T (p.Ala699=) | |
1 | g.10320103G>A | CA338332358 | KIF1B | c.2038G>A (p.Glu680Lys) c.2101G>A (p.Glu701Lys) c.2176G>A (p.Glu726Lys) c.2134G>A (p.Glu712Lys) c.2098G>A (p.Glu700Lys) | ClinVar |
1 | g.10320103G>C | CA338332359 | KIF1B | c.2038G>C (p.Glu680Gln) c.2101G>C (p.Glu701Gln) c.2176G>C (p.Glu726Gln) c.2134G>C (p.Glu712Gln) c.2098G>C (p.Glu700Gln) | |
1 | g.10320103G>T | CA338332360 | KIF1B | c.2038G>T (p.Glu680Ter) c.2101G>T (p.Glu701Ter) c.2176G>T (p.Glu726Ter) c.2134G>T (p.Glu712Ter) c.2098G>T (p.Glu700Ter) | |
1 | g.10320104A>C | CA338332361 | KIF1B | c.2039A>C (p.Glu680Ala) c.2102A>C (p.Glu701Ala) c.2177A>C (p.Glu726Ala) c.2135A>C (p.Glu712Ala) c.2099A>C (p.Glu700Ala) | |
1 | g.10320104A>G | CA338332362 | KIF1B | c.2039A>G (p.Glu680Gly) c.2102A>G (p.Glu701Gly) c.2177A>G (p.Glu726Gly) c.2135A>G (p.Glu712Gly) c.2099A>G (p.Glu700Gly) | |
1 | g.10320104A>T | CA338332363 | KIF1B | c.2039A>T (p.Glu680Val) c.2102A>T (p.Glu701Val) c.2177A>T (p.Glu726Val) c.2135A>T (p.Glu712Val) c.2099A>T (p.Glu700Val) | |
1 | g.10320105A>C | CA338332364 | KIF1B | c.2040A>C (p.Glu680Asp) c.2103A>C (p.Glu701Asp) c.2178A>C (p.Glu726Asp) c.2136A>C (p.Glu712Asp) c.2100A>C (p.Glu700Asp) | |
1 | g.10320105A>G | CA415881420 | KIF1B | c.2040A>G (p.Glu680=) c.2103A>G (p.Glu701=) c.2178A>G (p.Glu726=) c.2136A>G (p.Glu712=) c.2100A>G (p.Glu700=) | gnomAD v4 |
1 | g.10320105A>T | CA338332365 | KIF1B | c.2040A>T (p.Glu680Asp) c.2103A>T (p.Glu701Asp) c.2178A>T (p.Glu726Asp) c.2136A>T (p.Glu712Asp) c.2100A>T (p.Glu700Asp) | |
1 | g.10320106A= | CA1153153758 | KIF1B | c.2041A= (p.Thr681=) c.2104A= (p.Thr702=) c.2179A= (p.Thr727=) c.2137A= (p.Thr713=) c.2101A= (p.Thr701=) | |
1 | g.10320106A>C | CA338332366 | KIF1B | c.2041A>C (p.Thr681Pro) c.2104A>C (p.Thr702Pro) c.2179A>C (p.Thr727Pro) c.2137A>C (p.Thr713Pro) c.2101A>C (p.Thr701Pro) | |
1 | g.10320106A>G | CA338332367 | KIF1B | c.2041A>G (p.Thr681Ala) c.2104A>G (p.Thr702Ala) c.2179A>G (p.Thr727Ala) c.2137A>G (p.Thr713Ala) c.2101A>G (p.Thr701Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.10320106A>T | CA338332368 | KIF1B | c.2041A>T (p.Thr681Ser) c.2104A>T (p.Thr702Ser) c.2179A>T (p.Thr727Ser) c.2137A>T (p.Thr713Ser) c.2101A>T (p.Thr701Ser) | |
1 | g.10320107C>A | CA338332369 | KIF1B | c.2042C>A (p.Thr681Lys) c.2105C>A (p.Thr702Lys) c.2180C>A (p.Thr727Lys) c.2138C>A (p.Thr713Lys) c.2102C>A (p.Thr701Lys) | |
1 | g.10320107C>G | CA338332370 | KIF1B | c.2042C>G (p.Thr681Arg) c.2105C>G (p.Thr702Arg) c.2180C>G (p.Thr727Arg) c.2138C>G (p.Thr713Arg) c.2102C>G (p.Thr701Arg) | gnomAD v4 |
1 | g.10320107C>T | CA338332371 | KIF1B | c.2042C>T (p.Thr681Ile) c.2105C>T (p.Thr702Ile) c.2180C>T (p.Thr727Ile) c.2138C>T (p.Thr713Ile) c.2102C>T (p.Thr701Ile) | gnomAD v4 |
1 | g.10320108A>C | CA415881421 | KIF1B | c.2043A>C (p.Thr681=) c.2106A>C (p.Thr702=) c.2181A>C (p.Thr727=) c.2139A>C (p.Thr713=) c.2103A>C (p.Thr701=) | |
1 | g.10320108A>G | CA415881423 | KIF1B | c.2043A>G (p.Thr681=) c.2106A>G (p.Thr702=) c.2181A>G (p.Thr727=) c.2139A>G (p.Thr713=) c.2103A>G (p.Thr701=) | |
1 | g.10320108A>T | CA415881422 | KIF1B | c.2043A>T (p.Thr681=) c.2106A>T (p.Thr702=) c.2181A>T (p.Thr727=) c.2139A>T (p.Thr713=) c.2103A>T (p.Thr701=) | |
1 | g.10320109A>C | CA338332373 | KIF1B | c.2044A>C (p.Thr682Pro) c.2107A>C (p.Thr703Pro) c.2182A>C (p.Thr728Pro) c.2140A>C (p.Thr714Pro) c.2104A>C (p.Thr702Pro) | |
1 | g.10320109A>G | CA338332374 | KIF1B | c.2044A>G (p.Thr682Ala) c.2107A>G (p.Thr703Ala) c.2182A>G (p.Thr728Ala) c.2140A>G (p.Thr714Ala) c.2104A>G (p.Thr702Ala) | COSMIC |
1 | g.10320109A>T | CA338332372 | KIF1B | c.2044A>T (p.Thr682Ser) c.2107A>T (p.Thr703Ser) c.2182A>T (p.Thr728Ser) c.2140A>T (p.Thr714Ser) c.2104A>T (p.Thr702Ser) | |
1 | g.10320110C>A | CA338332375 | KIF1B | c.2045C>A (p.Thr682Asn) c.2108C>A (p.Thr703Asn) c.2183C>A (p.Thr728Asn) c.2141C>A (p.Thr714Asn) c.2105C>A (p.Thr702Asn) | |
1 | g.10320110C>G | CA338332376 | KIF1B | c.2045C>G (p.Thr682Ser) c.2108C>G (p.Thr703Ser) c.2183C>G (p.Thr728Ser) c.2141C>G (p.Thr714Ser) c.2105C>G (p.Thr702Ser) | |
1 | g.10320110C>T | CA338332377 | KIF1B | c.2045C>T (p.Thr682Ile) c.2108C>T (p.Thr703Ile) c.2183C>T (p.Thr728Ile) c.2141C>T (p.Thr714Ile) c.2105C>T (p.Thr702Ile) | |
1 | g.10320111T>A | CA415881424 | KIF1B | c.2046T>A (p.Thr682=) c.2109T>A (p.Thr703=) c.2184T>A (p.Thr728=) c.2142T>A (p.Thr714=) c.2106T>A (p.Thr702=) | |
1 | g.10320111T>C | CA415881425 | KIF1B | c.2046T>C (p.Thr682=) c.2109T>C (p.Thr703=) c.2184T>C (p.Thr728=) c.2142T>C (p.Thr714=) c.2106T>C (p.Thr702=) | |
1 | g.10320111T>G | CA415881426 | KIF1B | c.2046T>G (p.Thr682=) c.2109T>G (p.Thr703=) c.2184T>G (p.Thr728=) c.2142T>G (p.Thr714=) c.2106T>G (p.Thr702=) | |
1 | g.10320112G>A | CA338332378 | KIF1B | c.2047G>A (p.Glu683Lys) c.2110G>A (p.Glu704Lys) c.2185G>A (p.Glu729Lys) c.2143G>A (p.Glu715Lys) c.2107G>A (p.Glu703Lys) | |
1 | g.10320112G>C | CA338332379 | KIF1B | c.2047G>C (p.Glu683Gln) c.2110G>C (p.Glu704Gln) c.2185G>C (p.Glu729Gln) c.2143G>C (p.Glu715Gln) c.2107G>C (p.Glu703Gln) | |
1 | g.10320112G>T | CA338332380 | KIF1B | c.2047G>T (p.Glu683Ter) c.2110G>T (p.Glu704Ter) c.2185G>T (p.Glu729Ter) c.2143G>T (p.Glu715Ter) c.2107G>T (p.Glu703Ter) | |
1 | g.10320117_10320125del | CA2574205987 | KIF1B | c.2052_2060del (p.Glu685_Glu687del) c.2115_2123del (p.Glu706_Glu708del) c.2190_2198del (p.Glu731_Glu733del) c.2148_2156del (p.Glu717_Glu719del) c.2112_2120del (p.Glu705_Glu707del) | |
1 | g.10320113A>C | CA338332383 | KIF1B | c.2048A>C (p.Glu683Ala) c.2111A>C (p.Glu704Ala) c.2186A>C (p.Glu729Ala) c.2144A>C (p.Glu715Ala) c.2108A>C (p.Glu703Ala) | |
1 | g.10320113A>G | CA338332381 | KIF1B | c.2048A>G (p.Glu683Gly) c.2111A>G (p.Glu704Gly) c.2186A>G (p.Glu729Gly) c.2144A>G (p.Glu715Gly) c.2108A>G (p.Glu703Gly) | |
1 | g.10320113A>T | CA338332382 | KIF1B | c.2048A>T (p.Glu683Val) c.2111A>T (p.Glu704Val) c.2186A>T (p.Glu729Val) c.2144A>T (p.Glu715Val) c.2108A>T (p.Glu703Val) | |
1 | g.10320114A= | CA1153153765 | KIF1B | c.2049A= (p.Glu683=) c.2112A= (p.Glu704=) c.2187A= (p.Glu729=) c.2145A= (p.Glu715=) c.2109A= (p.Glu703=) | |
1 | g.10320114A>C | CA338332385 | KIF1B | c.2049A>C (p.Glu683Asp) c.2112A>C (p.Glu704Asp) c.2187A>C (p.Glu729Asp) c.2145A>C (p.Glu715Asp) c.2109A>C (p.Glu703Asp) | |
1 | g.10320114A>G | CA415881427 | KIF1B | c.2049A>G (p.Glu683=) c.2112A>G (p.Glu704=) c.2187A>G (p.Glu729=) c.2145A>G (p.Glu715=) c.2109A>G (p.Glu703=) | dbSNP |
1 | g.10320114A>T | CA338332386 | KIF1B | c.2049A>T (p.Glu683Asp) c.2112A>T (p.Glu704Asp) c.2187A>T (p.Glu729Asp) c.2145A>T (p.Glu715Asp) c.2109A>T (p.Glu703Asp) | |
1 | g.10320114_10320117delinsAGAG | CA1153153766 | KIF1B | c.2049_2052delinsAGAG (p.Glu683=) c.2112_2115delinsAGAG (p.Glu704=) c.2187_2190delinsAGAG (p.Glu729=) c.2145_2148delinsAGAG (p.Glu715=) c.2109_2112delinsAGAG (p.Glu703=) | |
1 | g.10320115G>A | CA338332388 | KIF1B | c.2050G>A (p.Glu684Lys) c.2113G>A (p.Glu705Lys) c.2188G>A (p.Glu730Lys) c.2146G>A (p.Glu716Lys) c.2110G>A (p.Glu704Lys) | |
1 | g.10320115G>C | CA338332390 | KIF1B | c.2050G>C (p.Glu684Gln) c.2113G>C (p.Glu705Gln) c.2188G>C (p.Glu730Gln) c.2146G>C (p.Glu716Gln) c.2110G>C (p.Glu704Gln) | |
1 | g.10320115G>T | CA338332391 | KIF1B | c.2050G>T (p.Glu684Ter) c.2113G>T (p.Glu705Ter) c.2188G>T (p.Glu730Ter) c.2146G>T (p.Glu716Ter) c.2110G>T (p.Glu704Ter) | |
1 | g.10320120_10320122del | CA581464 | KIF1B | c.2055_2057del (p.Glu686del) c.2118_2120del (p.Glu707del) c.2193_2195del (p.Glu732del) c.2151_2153del (p.Glu718del) c.2115_2117del (p.Glu706del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10320116A>C | CA338332394 | KIF1B | c.2051A>C (p.Glu684Ala) c.2114A>C (p.Glu705Ala) c.2189A>C (p.Glu730Ala) c.2147A>C (p.Glu716Ala) c.2111A>C (p.Glu704Ala) | |
1 | g.10320116A>G | CA338332398 | KIF1B | c.2051A>G (p.Glu684Gly) c.2114A>G (p.Glu705Gly) c.2189A>G (p.Glu730Gly) c.2147A>G (p.Glu716Gly) c.2111A>G (p.Glu704Gly) | gnomAD v4 |
1 | g.10320116A>T | CA338332396 | KIF1B | c.2051A>T (p.Glu684Val) c.2114A>T (p.Glu705Val) c.2189A>T (p.Glu730Val) c.2147A>T (p.Glu716Val) c.2111A>T (p.Glu704Val) | gnomAD v4 |
1 | g.10320117G>A | CA415881428 | KIF1B | c.2052G>A (p.Glu684=) c.2115G>A (p.Glu705=) c.2190G>A (p.Glu730=) c.2148G>A (p.Glu716=) c.2112G>A (p.Glu704=) | ClinVar gnomAD v4 |
1 | g.10320117G>C | CA338332400 | KIF1B | c.2052G>C (p.Glu684Asp) c.2115G>C (p.Glu705Asp) c.2190G>C (p.Glu730Asp) c.2148G>C (p.Glu716Asp) c.2112G>C (p.Glu704Asp) | |
1 | g.10320117G>T | CA338332402 | KIF1B | c.2052G>T (p.Glu684Asp) c.2115G>T (p.Glu705Asp) c.2190G>T (p.Glu730Asp) c.2148G>T (p.Glu716Asp) c.2112G>T (p.Glu704Asp) | |
1 | g.10320117_10320126delinsGGAGGAAGAA | CA1153153775 | KIF1B | c.2052_2061delinsGGAGGAAGAA (p.Glu684=) c.2115_2124delinsGGAGGAAGAA (p.Glu705=) c.2190_2199delinsGGAGGAAGAA (p.Glu730=) c.2148_2157delinsGGAGGAAGAA (p.Glu716=) c.2112_2121delinsGGAGGAAGAA (p.Glu704=) | |
1 | g.10320118G>A | CA338332403 | KIF1B | c.2053G>A (p.Glu685Lys) c.2116G>A (p.Glu706Lys) c.2191G>A (p.Glu731Lys) c.2149G>A (p.Glu717Lys) c.2113G>A (p.Glu705Lys) | |
1 | g.10320118G>C | CA338332405 | KIF1B | c.2053G>C (p.Glu685Gln) c.2116G>C (p.Glu706Gln) c.2191G>C (p.Glu731Gln) c.2149G>C (p.Glu717Gln) c.2113G>C (p.Glu705Gln) | |
1 | g.10320118G>T | CA338332407 | KIF1B | c.2053G>T (p.Glu685Ter) c.2116G>T (p.Glu706Ter) c.2191G>T (p.Glu731Ter) c.2149G>T (p.Glu717Ter) c.2113G>T (p.Glu705Ter) | |
1 | g.10320128_10320136del | CA521146924 | KIF1B | c.2063_2071del (p.Glu688_Glu690del) c.2126_2134del (p.Glu709_Glu711del) c.2201_2209del (p.Glu734_Glu736del) c.2159_2167del (p.Glu720_Glu722del) c.2123_2131del (p.Glu708_Glu710del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10320119A>C | CA338332409 | KIF1B | c.2054A>C (p.Glu685Ala) c.2117A>C (p.Glu706Ala) c.2192A>C (p.Glu731Ala) c.2150A>C (p.Glu717Ala) c.2114A>C (p.Glu705Ala) | ClinVar |
1 | g.10320119A>G | CA338332411 | KIF1B | c.2054A>G (p.Glu685Gly) c.2117A>G (p.Glu706Gly) c.2192A>G (p.Glu731Gly) c.2150A>G (p.Glu717Gly) c.2114A>G (p.Glu705Gly) | |
1 | g.10320119A>T | CA338332412 | KIF1B | c.2054A>T (p.Glu685Val) c.2117A>T (p.Glu706Val) c.2192A>T (p.Glu731Val) c.2150A>T (p.Glu717Val) c.2114A>T (p.Glu705Val) | |
1 | g.10320120G>A | CA415881429 | KIF1B | c.2055G>A (p.Glu685=) c.2118G>A (p.Glu706=) c.2193G>A (p.Glu731=) c.2151G>A (p.Glu717=) c.2115G>A (p.Glu705=) | |
1 | g.10320120G>C | CA338332415 | KIF1B | c.2055G>C (p.Glu685Asp) c.2118G>C (p.Glu706Asp) c.2193G>C (p.Glu731Asp) c.2151G>C (p.Glu717Asp) c.2115G>C (p.Glu705Asp) | |
1 | g.10320120G>T | CA338332416 | KIF1B | c.2055G>T (p.Glu685Asp) c.2118G>T (p.Glu706Asp) c.2193G>T (p.Glu731Asp) c.2151G>T (p.Glu717Asp) c.2115G>T (p.Glu705Asp) | |
1 | g.10320121G>A | CA338332418 | KIF1B | c.2056G>A (p.Glu686Lys) c.2119G>A (p.Glu707Lys) c.2194G>A (p.Glu732Lys) c.2152G>A (p.Glu718Lys) c.2116G>A (p.Glu706Lys) | gnomAD v4 |
1 | g.10320121G>C | CA338332420 | KIF1B | c.2056G>C (p.Glu686Gln) c.2119G>C (p.Glu707Gln) c.2194G>C (p.Glu732Gln) c.2152G>C (p.Glu718Gln) c.2116G>C (p.Glu706Gln) | |
1 | g.10320121G>T | CA338332421 | KIF1B | c.2056G>T (p.Glu686Ter) c.2119G>T (p.Glu707Ter) c.2194G>T (p.Glu732Ter) c.2152G>T (p.Glu718Ter) c.2116G>T (p.Glu706Ter) | |
1 | g.10320126_10320128del | CA2574205991 | KIF1B | c.2061_2063del (p.Glu688del) c.2124_2126del (p.Glu709del) c.2199_2201del (p.Glu734del) c.2157_2159del (p.Glu720del) c.2121_2123del (p.Glu708del) | |
1 | g.10320122A>C | CA338332423 | KIF1B | c.2057A>C (p.Glu686Ala) c.2120A>C (p.Glu707Ala) c.2195A>C (p.Glu732Ala) c.2153A>C (p.Glu718Ala) c.2117A>C (p.Glu706Ala) | |
1 | g.10320122A>G | CA338332427 | KIF1B | c.2057A>G (p.Glu686Gly) c.2120A>G (p.Glu707Gly) c.2195A>G (p.Glu732Gly) c.2153A>G (p.Glu718Gly) c.2117A>G (p.Glu706Gly) | |
1 | g.10320122A>T | CA338332425 | KIF1B | c.2057A>T (p.Glu686Val) c.2120A>T (p.Glu707Val) c.2195A>T (p.Glu732Val) c.2153A>T (p.Glu718Val) c.2117A>T (p.Glu706Val) | |
1 | g.10320123A= | CA1153153789 | KIF1B | c.2058A= (p.Glu686=) c.2121A= (p.Glu707=) c.2196A= (p.Glu732=) c.2154A= (p.Glu718=) c.2118A= (p.Glu706=) | |
1 | g.10320123A>C | CA338332429 | KIF1B | c.2058A>C (p.Glu686Asp) c.2121A>C (p.Glu707Asp) c.2196A>C (p.Glu732Asp) c.2154A>C (p.Glu718Asp) c.2118A>C (p.Glu706Asp) | |
1 | g.10320123A>G | CA415881430 | KIF1B | c.2058A>G (p.Glu686=) c.2121A>G (p.Glu707=) c.2196A>G (p.Glu732=) c.2154A>G (p.Glu718=) c.2118A>G (p.Glu706=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.10320123A>T | CA338332431 | KIF1B | c.2058A>T (p.Glu686Asp) c.2121A>T (p.Glu707Asp) c.2196A>T (p.Glu732Asp) c.2154A>T (p.Glu718Asp) c.2118A>T (p.Glu706Asp) | |
1 | g.10320124G>A | CA338332433 | KIF1B | c.2059G>A (p.Glu687Lys) c.2122G>A (p.Glu708Lys) c.2197G>A (p.Glu733Lys) c.2155G>A (p.Glu719Lys) c.2119G>A (p.Glu707Lys) | |
1 | g.10320124G>C | CA338332435 | KIF1B | c.2059G>C (p.Glu687Gln) c.2122G>C (p.Glu708Gln) c.2197G>C (p.Glu733Gln) c.2155G>C (p.Glu719Gln) c.2119G>C (p.Glu707Gln) | |
1 | g.10320124G>T | CA338332437 | KIF1B | c.2059G>T (p.Glu687Ter) c.2122G>T (p.Glu708Ter) c.2197G>T (p.Glu733Ter) c.2155G>T (p.Glu719Ter) c.2119G>T (p.Glu707Ter) | |
1 | g.10320125A>C | CA338332439 | KIF1B | c.2060A>C (p.Glu687Ala) c.2123A>C (p.Glu708Ala) c.2198A>C (p.Glu733Ala) c.2156A>C (p.Glu719Ala) c.2120A>C (p.Glu707Ala) | COSMIC |
1 | g.10320125A>G | CA338332441 | KIF1B | c.2060A>G (p.Glu687Gly) c.2123A>G (p.Glu708Gly) c.2198A>G (p.Glu733Gly) c.2156A>G (p.Glu719Gly) c.2120A>G (p.Glu707Gly) | |
1 | g.10320125A>T | CA338332443 | KIF1B | c.2060A>T (p.Glu687Val) c.2123A>T (p.Glu708Val) c.2198A>T (p.Glu733Val) c.2156A>T (p.Glu719Val) c.2120A>T (p.Glu707Val) | |
1 | g.10320126A>C | CA338332444 | KIF1B | c.2061A>C (p.Glu687Asp) c.2124A>C (p.Glu708Asp) c.2199A>C (p.Glu733Asp) c.2157A>C (p.Glu719Asp) c.2121A>C (p.Glu707Asp) | |
1 | g.10320126A>G | CA415881431 | KIF1B | c.2061A>G (p.Glu687=) c.2124A>G (p.Glu708=) c.2199A>G (p.Glu733=) c.2157A>G (p.Glu719=) c.2121A>G (p.Glu707=) | |
1 | g.10320126A>T | CA338332446 | KIF1B | c.2061A>T (p.Glu687Asp) c.2124A>T (p.Glu708Asp) c.2199A>T (p.Glu733Asp) c.2157A>T (p.Glu719Asp) c.2121A>T (p.Glu707Asp) | |
1 | g.10320127G>A | CA338332448 | KIF1B | c.2062G>A (p.Glu688Lys) c.2125G>A (p.Glu709Lys) c.2200G>A (p.Glu734Lys) c.2158G>A (p.Glu720Lys) c.2122G>A (p.Glu708Lys) | |
1 | g.10320127G>C | CA338332450 | KIF1B | c.2062G>C (p.Glu688Gln) c.2125G>C (p.Glu709Gln) c.2200G>C (p.Glu734Gln) c.2158G>C (p.Glu720Gln) c.2122G>C (p.Glu708Gln) | |
1 | g.10320127G>T | CA338332451 | KIF1B | c.2062G>T (p.Glu688Ter) c.2125G>T (p.Glu709Ter) c.2200G>T (p.Glu734Ter) c.2158G>T (p.Glu720Ter) c.2122G>T (p.Glu708Ter) | |
1 | g.10320128A>C | CA338332457 | KIF1B | c.2063A>C (p.Glu688Ala) c.2126A>C (p.Glu709Ala) c.2201A>C (p.Glu734Ala) c.2159A>C (p.Glu720Ala) c.2123A>C (p.Glu708Ala) | |
1 | g.10320128A>G | CA338332454 | KIF1B | c.2063A>G (p.Glu688Gly) c.2126A>G (p.Glu709Gly) c.2201A>G (p.Glu734Gly) c.2159A>G (p.Glu720Gly) c.2123A>G (p.Glu708Gly) | |
1 | g.10320128A>T | CA338332456 | KIF1B | c.2063A>T (p.Glu688Val) c.2126A>T (p.Glu709Val) c.2201A>T (p.Glu734Val) c.2159A>T (p.Glu720Val) c.2123A>T (p.Glu708Val) | |
1 | g.10320129G>A | CA581465 | KIF1B | c.2064G>A (p.Glu688=) c.2127G>A (p.Glu709=) c.2202G>A (p.Glu734=) c.2160G>A (p.Glu720=) c.2124G>A (p.Glu708=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10320129G>C | CA338332462 | KIF1B | c.2064G>C (p.Glu688Asp) c.2127G>C (p.Glu709Asp) c.2202G>C (p.Glu734Asp) c.2160G>C (p.Glu720Asp) c.2124G>C (p.Glu708Asp) | |
1 | g.10320129G= | CA1153153792 | KIF1B | c.2064G= (p.Glu688=) c.2127G= (p.Glu709=) c.2202G= (p.Glu734=) c.2160G= (p.Glu720=) c.2124G= (p.Glu708=) | |
1 | g.10320129G>T | CA338332464 | KIF1B | c.2064G>T (p.Glu688Asp) c.2127G>T (p.Glu709Asp) c.2202G>T (p.Glu734Asp) c.2160G>T (p.Glu720Asp) c.2124G>T (p.Glu708Asp) | |
1 | g.10320130G>A | CA338332466 | KIF1B | c.2065G>A (p.Glu689Lys) c.2128G>A (p.Glu710Lys) c.2203G>A (p.Glu735Lys) c.2161G>A (p.Glu721Lys) c.2125G>A (p.Glu709Lys) | |
1 | g.10320130G>C | CA338332468 | KIF1B | c.2065G>C (p.Glu689Gln) c.2128G>C (p.Glu710Gln) c.2203G>C (p.Glu735Gln) c.2161G>C (p.Glu721Gln) c.2125G>C (p.Glu709Gln) | |
1 | g.10320130G>T | CA338332470 | KIF1B | c.2065G>T (p.Glu689Ter) c.2128G>T (p.Glu710Ter) c.2203G>T (p.Glu735Ter) c.2161G>T (p.Glu721Ter) c.2125G>T (p.Glu709Ter) | |
1 | g.10320131A>C | CA338332472 | KIF1B | c.2066A>C (p.Glu689Ala) c.2129A>C (p.Glu710Ala) c.2204A>C (p.Glu735Ala) c.2162A>C (p.Glu721Ala) c.2126A>C (p.Glu709Ala) | |
1 | g.10320131A>G | CA338332474 | KIF1B | c.2066A>G (p.Glu689Gly) c.2129A>G (p.Glu710Gly) c.2204A>G (p.Glu735Gly) c.2162A>G (p.Glu721Gly) c.2126A>G (p.Glu709Gly) | gnomAD v4 |
1 | g.10320131A>T | CA338332476 | KIF1B | c.2066A>T (p.Glu689Val) c.2129A>T (p.Glu710Val) c.2204A>T (p.Glu735Val) c.2162A>T (p.Glu721Val) c.2126A>T (p.Glu709Val) | |
1 | g.10320132A= | CA1153153796 | KIF1B | c.2067A= (p.Glu689=) c.2130A= (p.Glu710=) c.2205A= (p.Glu735=) c.2163A= (p.Glu721=) c.2127A= (p.Glu709=) | |
1 | g.10320132A>C | CA338332478 | KIF1B | c.2067A>C (p.Glu689Asp) c.2130A>C (p.Glu710Asp) c.2205A>C (p.Glu735Asp) c.2163A>C (p.Glu721Asp) c.2127A>C (p.Glu709Asp) | |
1 | g.10320132A>G | CA581466 | KIF1B | c.2067A>G (p.Glu689=) c.2130A>G (p.Glu710=) c.2205A>G (p.Glu735=) c.2163A>G (p.Glu721=) c.2127A>G (p.Glu709=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10320132A>T | CA338332480 | KIF1B | c.2067A>T (p.Glu689Asp) c.2130A>T (p.Glu710Asp) c.2205A>T (p.Glu735Asp) c.2163A>T (p.Glu721Asp) c.2127A>T (p.Glu709Asp) | |
1 | g.10320133G>A | CA338332482 | KIF1B | c.2068G>A (p.Glu690Lys) c.2131G>A (p.Glu711Lys) c.2206G>A (p.Glu736Lys) c.2164G>A (p.Glu722Lys) c.2128G>A (p.Glu710Lys) | |
1 | g.10320133G>C | CA338332485 | KIF1B | c.2068G>C (p.Glu690Gln) c.2131G>C (p.Glu711Gln) c.2206G>C (p.Glu736Gln) c.2164G>C (p.Glu722Gln) c.2128G>C (p.Glu710Gln) | |
1 | g.10320133G>T | CA338332483 | KIF1B | c.2068G>T (p.Glu690Ter) c.2131G>T (p.Glu711Ter) c.2206G>T (p.Glu736Ter) c.2164G>T (p.Glu722Ter) c.2128G>T (p.Glu710Ter) | |
1 | g.10320134A= | CA1149149997 | KIF1B | c.2069A= (p.Glu690=) c.2132A= (p.Glu711=) c.2207A= (p.Glu736=) c.2165A= (p.Glu722=) c.2129A= (p.Glu710=) | |
1 | g.10320134A>C | CA338332488 | KIF1B | c.2069A>C (p.Glu690Ala) c.2132A>C (p.Glu711Ala) c.2207A>C (p.Glu736Ala) c.2165A>C (p.Glu722Ala) c.2129A>C (p.Glu710Ala) | |
1 | g.10320134A>G | CA581467 | KIF1B | c.2069A>G (p.Glu690Gly) c.2132A>G (p.Glu711Gly) c.2207A>G (p.Glu736Gly) c.2165A>G (p.Glu722Gly) c.2129A>G (p.Glu710Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10320134A>T | CA338332490 | KIF1B | c.2069A>T (p.Glu690Val) c.2132A>T (p.Glu711Val) c.2207A>T (p.Glu736Val) c.2165A>T (p.Glu722Val) c.2129A>T (p.Glu710Val) | |
1 | g.10320135A>C | CA338332493 | KIF1B | c.2070A>C (p.Glu690Asp) c.2133A>C (p.Glu711Asp) c.2208A>C (p.Glu736Asp) c.2166A>C (p.Glu722Asp) c.2130A>C (p.Glu710Asp) | |
1 | g.10320135A>G | CA415881432 | KIF1B | c.2070A>G (p.Glu690=) c.2133A>G (p.Glu711=) c.2208A>G (p.Glu736=) c.2166A>G (p.Glu722=) c.2130A>G (p.Glu710=) | |
1 | g.10320135A>T | CA338332495 | KIF1B | c.2070A>T (p.Glu690Asp) c.2133A>T (p.Glu711Asp) c.2208A>T (p.Glu736Asp) c.2166A>T (p.Glu722Asp) c.2130A>T (p.Glu710Asp) | |
1 | g.10320136G>A | CA338332497 | KIF1B | c.2071G>A (p.Val691Ile) c.2134G>A (p.Val712Ile) c.2209G>A (p.Val737Ile) c.2167G>A (p.Val723Ile) c.2131G>A (p.Val711Ile) | |
1 | g.10320136G>C | CA338332498 | KIF1B | c.2071G>C (p.Val691Leu) c.2134G>C (p.Val712Leu) c.2209G>C (p.Val737Leu) c.2167G>C (p.Val723Leu) c.2131G>C (p.Val711Leu) | |
1 | g.10320136G>T | CA338332500 | KIF1B | c.2071G>T (p.Val691Phe) c.2134G>T (p.Val712Phe) c.2209G>T (p.Val737Phe) c.2167G>T (p.Val723Phe) c.2131G>T (p.Val711Phe) | |
1 | g.10320137G>A | CA338332502 | KIF1B | c.2071+1G>A (n.2071+1G>A) c.2134+1G>A (n.2134+1G>A) c.2209+1G>A (n.2209+1G>A) c.2167+1G>A (n.2167+1G>A) c.2131+1G>A (n.2131+1G>A) | |
1 | g.10320137G>C | CA338332504 | KIF1B | c.2071+1G>C (n.2071+1G>C) c.2134+1G>C (n.2134+1G>C) c.2209+1G>C (n.2209+1G>C) c.2167+1G>C (n.2167+1G>C) c.2131+1G>C (n.2131+1G>C) | |
1 | g.10320137G>T | CA338332505 | KIF1B | c.2071+1G>T (n.2071+1G>T) c.2134+1G>T (n.2134+1G>T) c.2209+1G>T (n.2209+1G>T) c.2167+1G>T (n.2167+1G>T) c.2131+1G>T (n.2131+1G>T) | gnomAD v4 |
1 | g.10320138T>A | CA338332508 | KIF1B | c.2071+2T>A (n.2071+2T>A) c.2134+2T>A (n.2134+2T>A) c.2209+2T>A (n.2209+2T>A) c.2167+2T>A (n.2167+2T>A) c.2131+2T>A (n.2131+2T>A) | |
1 | g.10320138T>C | CA338332510 | KIF1B | c.2071+2T>C (n.2071+2T>C) c.2134+2T>C (n.2134+2T>C) c.2209+2T>C (n.2209+2T>C) c.2167+2T>C (n.2167+2T>C) c.2131+2T>C (n.2131+2T>C) | |
1 | g.10320138T>G | CA338332512 | KIF1B | c.2071+2T>G (n.2071+2T>G) c.2134+2T>G (n.2134+2T>G) c.2209+2T>G (n.2209+2T>G) c.2167+2T>G (n.2167+2T>G) c.2131+2T>G (n.2131+2T>G) | |
1 | g.10320141A= | CA1153153802 | KIF1B | c.2071+5A= (n.2071+5A=) c.2134+5A= (n.2134+5A=) c.2209+5A= (n.2209+5A=) c.2167+5A= (n.2167+5A=) c.2131+5A= (n.2131+5A=) | |
1 | g.10320141A>C | CA884733769 | KIF1B | c.2071+5A>C (n.2071+5A>C) c.2134+5A>C (n.2134+5A>C) c.2209+5A>C (n.2209+5A>C) c.2167+5A>C (n.2167+5A>C) c.2131+5A>C (n.2131+5A>C) | dbSNP |
1 | g.10320142A= | CA1153153803 | KIF1B | c.2071+6A= (n.2071+6A=) c.2134+6A= (n.2134+6A=) c.2209+6A= (n.2209+6A=) c.2167+6A= (n.2167+6A=) c.2131+6A= (n.2131+6A=) | |
1 | g.10320142A>G | CA998500625 | KIF1B | c.2071+6A>G (n.2071+6A>G) c.2134+6A>G (n.2134+6A>G) c.2209+6A>G (n.2209+6A>G) c.2167+6A>G (n.2167+6A>G) c.2131+6A>G (n.2131+6A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.10320143T>G | CA2643180099 | KIF1B | c.2071+7T>G (n.2071+7T>G) c.2134+7T>G (n.2134+7T>G) c.2209+7T>G (n.2209+7T>G) c.2167+7T>G (n.2167+7T>G) c.2131+7T>G (n.2131+7T>G) | gnomAD v4 |
1 | g.10320144C>A | CA2643180101 | KIF1B | c.2071+8C>A (n.2071+8C>A) c.2134+8C>A (n.2134+8C>A) c.2209+8C>A (n.2209+8C>A) c.2167+8C>A (n.2167+8C>A) c.2131+8C>A (n.2131+8C>A) | gnomAD v4 |
1 | g.10320144C= | CA1153153804 | KIF1B | c.2071+8C= (n.2071+8C=) c.2134+8C= (n.2134+8C=) c.2209+8C= (n.2209+8C=) c.2167+8C= (n.2167+8C=) c.2131+8C= (n.2131+8C=) | |
1 | g.10320144C>G | CA1153153805 | KIF1B | c.2071+8C>G (n.2071+8C>G) c.2134+8C>G (n.2134+8C>G) c.2209+8C>G (n.2209+8C>G) c.2167+8C>G (n.2167+8C>G) c.2131+8C>G (n.2131+8C>G) | dbSNP gnomAD v4 |
1 | g.10320145T>G | CA2499214091 | KIF1B | c.2071+9T>G (n.2071+9T>G) c.2134+9T>G (n.2134+9T>G) c.2209+9T>G (n.2209+9T>G) c.2167+9T>G (n.2167+9T>G) c.2131+9T>G (n.2131+9T>G) | ClinVar dbSNP |
1 | g.10320145dup | CA2742435925 | KIF1B | c.2071+9dup (n.2071+9dup) c.2134+9dup (n.2134+9dup) c.2209+9dup (n.2209+9dup) c.2167+9dup (n.2167+9dup) c.2131+9dup (n.2131+9dup) | |
1 | g.10320148A>C | CA2643180103 | KIF1B | c.2071+12A>C (n.2071+12A>C) c.2134+12A>C (n.2134+12A>C) c.2209+12A>C (n.2209+12A>C) c.2167+12A>C (n.2167+12A>C) c.2131+12A>C (n.2131+12A>C) | gnomAD v4 |
1 | g.10320149G>A | CA2643180106 | KIF1B | c.2071+13G>A (n.2071+13G>A) c.2134+13G>A (n.2134+13G>A) c.2209+13G>A (n.2209+13G>A) c.2167+13G>A (n.2167+13G>A) c.2131+13G>A (n.2131+13G>A) | gnomAD v4 |
1 | g.10320149G>C | CA2643180107 | KIF1B | c.2071+13G>C (n.2071+13G>C) c.2134+13G>C (n.2134+13G>C) c.2209+13G>C (n.2209+13G>C) c.2167+13G>C (n.2167+13G>C) c.2131+13G>C (n.2131+13G>C) | gnomAD v4 |
1 | g.10320149G= | CA1153153807 | KIF1B | c.2071+13G= (n.2071+13G=) c.2134+13G= (n.2134+13G=) c.2209+13G= (n.2209+13G=) c.2167+13G= (n.2167+13G=) c.2131+13G= (n.2131+13G=) | |
1 | g.10320149G>T | CA521146928 | KIF1B | c.2071+13G>T (n.2071+13G>T) c.2134+13G>T (n.2134+13G>T) c.2209+13G>T (n.2209+13G>T) c.2167+13G>T (n.2167+13G>T) c.2131+13G>T (n.2131+13G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.10320149_10320169delinsGACCGAAAGTTTCCTGTGTAT | CA1153153809 | KIF1B | c.2071+13_2071+33delinsGACCGAAAGTTTCCTGTGTAT (n.2071+13_2071+33delinsGACCGAAAGTTTCCTGTGTAT) c.2134+13_2134+33delinsGACCGAAAGTTTCCTGTGTAT (n.2134+13_2134+33delinsGACCGAAAGTTTCCTGTGTAT) c.2209+13_2209+33delinsGACCGAAAGTTTCCTGTGTAT (n.2209+13_2209+33delinsGACCGAAAGTTTCCTGTGTAT) c.2167+13_2167+33delinsGACCGAAAGTTTCCTGTGTAT (n.2167+13_2167+33delinsGACCGAAAGTTTCCTGTGTAT) c.2131+13_2131+33delinsGACCGAAAGTTTCCTGTGTAT (n.2131+13_2131+33delinsGACCGAAAGTTTCCTGTGTAT) | |
1 | g.10320150A>G | CA2643180109 | KIF1B | c.2071+14A>G (n.2071+14A>G) c.2134+14A>G (n.2134+14A>G) c.2209+14A>G (n.2209+14A>G) c.2167+14A>G (n.2167+14A>G) c.2131+14A>G (n.2131+14A>G) | gnomAD v4 |
1 | g.10320151_10320170del | CA521146930 | KIF1B | c.2071+15_2071+34del (n.2071+15_2071+34del) c.2134+15_2134+34del (n.2134+15_2134+34del) c.2209+15_2209+34del (n.2209+15_2209+34del) c.2167+15_2167+34del (n.2167+15_2167+34del) c.2131+15_2131+34del (n.2131+15_2131+34del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10320151C>A | CA2643180110 | KIF1B | c.2071+15C>A (n.2071+15C>A) c.2134+15C>A (n.2134+15C>A) c.2209+15C>A (n.2209+15C>A) c.2167+15C>A (n.2167+15C>A) c.2131+15C>A (n.2131+15C>A) | gnomAD v4 |
1 | g.10320151C= | CA1153153814 | KIF1B | c.2071+15C= (n.2071+15C=) c.2134+15C= (n.2134+15C=) c.2209+15C= (n.2209+15C=) c.2167+15C= (n.2167+15C=) c.2131+15C= (n.2131+15C=) | |
1 | g.10320151C>T | CA581468 | KIF1B | c.2071+15C>T (n.2071+15C>T) c.2134+15C>T (n.2134+15C>T) c.2209+15C>T (n.2209+15C>T) c.2167+15C>T (n.2167+15C>T) c.2131+15C>T (n.2131+15C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10320152del | CA2643180111 | KIF1B | c.2071+16del (n.2071+16del) c.2134+16del (n.2134+16del) c.2209+16del (n.2209+16del) c.2167+16del (n.2167+16del) c.2131+16del (n.2131+16del) | gnomAD v4 |
1 | g.10320152C>A | CA2574205996 | KIF1B | c.2071+16C>A (n.2071+16C>A) c.2134+16C>A (n.2134+16C>A) c.2209+16C>A (n.2209+16C>A) c.2167+16C>A (n.2167+16C>A) c.2131+16C>A (n.2131+16C>A) | gnomAD v4 |
1 | g.10320152C= | CA1153153825 | KIF1B | c.2071+16C= (n.2071+16C=) c.2134+16C= (n.2134+16C=) c.2209+16C= (n.2209+16C=) c.2167+16C= (n.2167+16C=) c.2131+16C= (n.2131+16C=) | |
1 | g.10320152C>G | CA1153153820 | KIF1B | c.2071+16C>G (n.2071+16C>G) c.2134+16C>G (n.2134+16C>G) c.2209+16C>G (n.2209+16C>G) c.2167+16C>G (n.2167+16C>G) c.2131+16C>G (n.2131+16C>G) | dbSNP gnomAD v4 |
1 | g.10320152C>T | CA581469 | KIF1B | c.2071+16C>T (n.2071+16C>T) c.2134+16C>T (n.2134+16C>T) c.2209+16C>T (n.2209+16C>T) c.2167+16C>T (n.2167+16C>T) c.2131+16C>T (n.2131+16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.10320153G>A | CA998500635 | KIF1B | c.2071+17G>A (n.2071+17G>A) c.2134+17G>A (n.2134+17G>A) c.2209+17G>A (n.2209+17G>A) c.2167+17G>A (n.2167+17G>A) c.2131+17G>A (n.2131+17G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.10320153G= | CA1153153831 | KIF1B | c.2071+17G= (n.2071+17G=) c.2134+17G= (n.2134+17G=) c.2209+17G= (n.2209+17G=) c.2167+17G= (n.2167+17G=) c.2131+17G= (n.2131+17G=) | |
1 | g.10320153G>T | CA2643180112 | KIF1B | c.2071+17G>T (n.2071+17G>T) c.2134+17G>T (n.2134+17G>T) c.2209+17G>T (n.2209+17G>T) c.2167+17G>T (n.2167+17G>T) c.2131+17G>T (n.2131+17G>T) | gnomAD v4 |
1 | g.10320154A= | CA1153153839 | KIF1B | c.2071+18A= (n.2071+18A=) c.2134+18A= (n.2134+18A=) c.2209+18A= (n.2209+18A=) c.2167+18A= (n.2167+18A=) c.2131+18A= (n.2131+18A=) | |
1 | g.10320154A>G | CA581470 | KIF1B | c.2071+18A>G (n.2071+18A>G) c.2134+18A>G (n.2134+18A>G) c.2209+18A>G (n.2209+18A>G) c.2167+18A>G (n.2167+18A>G) c.2131+18A>G (n.2131+18A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10320154_10320156delinsAAA | CA1140553080 | KIF1B | c.2071+18_2071+20delinsAAA (n.2071+18_2071+20delinsAAA) c.2134+18_2134+20delinsAAA (n.2134+18_2134+20delinsAAA) c.2209+18_2209+20delinsAAA (n.2209+18_2209+20delinsAAA) c.2167+18_2167+20delinsAAA (n.2167+18_2167+20delinsAAA) c.2131+18_2131+20delinsAAA (n.2131+18_2131+20delinsAAA) | |
1 | g.10320156dup | CA17831051 | KIF1B | c.2071+20dup (n.2071+20dup) c.2134+20dup (n.2134+20dup) c.2209+20dup (n.2209+20dup) c.2167+20dup (n.2167+20dup) c.2131+20dup (n.2131+20dup) | dbSNP |
1 | g.10320156del | CA2695240426 | KIF1B | c.2071+20del (n.2071+20del) c.2134+20del (n.2134+20del) c.2209+20del (n.2209+20del) c.2167+20del (n.2167+20del) c.2131+20del (n.2131+20del) | dbSNP |
1 | g.10320157G>A | CA581471 | KIF1B | c.2071+21G>A (n.2071+21G>A) c.2134+21G>A (n.2134+21G>A) c.2209+21G>A (n.2209+21G>A) c.2167+21G>A (n.2167+21G>A) c.2131+21G>A (n.2131+21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10320157G= | CA1153153848 | KIF1B | c.2071+21G= (n.2071+21G=) c.2134+21G= (n.2134+21G=) c.2209+21G= (n.2209+21G=) c.2167+21G= (n.2167+21G=) c.2131+21G= (n.2131+21G=) | |
1 | g.10320157G>T | CA521146938 | KIF1B | c.2071+21G>T (n.2071+21G>T) c.2134+21G>T (n.2134+21G>T) c.2209+21G>T (n.2209+21G>T) c.2167+21G>T (n.2167+21G>T) c.2131+21G>T (n.2131+21G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10320158T>A | CA2507523154 | KIF1B | c.2071+22T>A (n.2071+22T>A) c.2134+22T>A (n.2134+22T>A) c.2209+22T>A (n.2209+22T>A) c.2167+22T>A (n.2167+22T>A) c.2131+22T>A (n.2131+22T>A) | gnomAD v4 |
1 | g.10320159T>C | CA2574206001 | KIF1B | c.2071+23T>C (n.2071+23T>C) c.2134+23T>C (n.2134+23T>C) c.2209+23T>C (n.2209+23T>C) c.2167+23T>C (n.2167+23T>C) c.2131+23T>C (n.2131+23T>C) | |
1 | g.10320160T>C | CA2574206002 | KIF1B | c.2071+24T>C (n.2071+24T>C) c.2134+24T>C (n.2134+24T>C) c.2209+24T>C (n.2209+24T>C) c.2167+24T>C (n.2167+24T>C) c.2131+24T>C (n.2131+24T>C) | gnomAD v4 |
1 | g.10320161C>A | CA2643180118 | KIF1B | c.2071+25C>A (n.2071+25C>A) c.2134+25C>A (n.2134+25C>A) c.2209+25C>A (n.2209+25C>A) c.2167+25C>A (n.2167+25C>A) c.2131+25C>A (n.2131+25C>A) | gnomAD v4 |
1 | g.10320162C= | CA1153153853 | KIF1B | c.2071+26C= (n.2071+26C=) c.2134+26C= (n.2134+26C=) c.2209+26C= (n.2209+26C=) c.2167+26C= (n.2167+26C=) c.2131+26C= (n.2131+26C=) | |
1 | g.10320162C>T | CA581472 | KIF1B | c.2071+26C>T (n.2071+26C>T) c.2134+26C>T (n.2134+26C>T) c.2209+26C>T (n.2209+26C>T) c.2167+26C>T (n.2167+26C>T) c.2131+26C>T (n.2131+26C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10320164G>A | CA581473 | KIF1B | c.2071+28G>A (n.2071+28G>A) c.2134+28G>A (n.2134+28G>A) c.2209+28G>A (n.2209+28G>A) c.2167+28G>A (n.2167+28G>A) c.2131+28G>A (n.2131+28G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10320164G= | CA1143845011 | KIF1B | c.2071+28G= (n.2071+28G=) c.2134+28G= (n.2134+28G=) c.2209+28G= (n.2209+28G=) c.2167+28G= (n.2167+28G=) c.2131+28G= (n.2131+28G=) | |
1 | g.10320164G>T | CA2574206003 | KIF1B | c.2071+28G>T (n.2071+28G>T) c.2134+28G>T (n.2134+28G>T) c.2209+28G>T (n.2209+28G>T) c.2167+28G>T (n.2167+28G>T) c.2131+28G>T (n.2131+28G>T) | gnomAD v4 |
1 | g.10320165T>C | CA2574206004 | KIF1B | c.2071+29T>C (n.2071+29T>C) c.2134+29T>C (n.2134+29T>C) c.2209+29T>C (n.2209+29T>C) c.2167+29T>C (n.2167+29T>C) c.2131+29T>C (n.2131+29T>C) | |
1 | g.10320166del | CA2643180121 | KIF1B | c.2071+30del (n.2071+30del) c.2134+30del (n.2134+30del) c.2209+30del (n.2209+30del) c.2167+30del (n.2167+30del) c.2131+30del (n.2131+30del) | gnomAD v4 |
1 | g.10320166G>A | CA17831072 | KIF1B | c.2071+30G>A (n.2071+30G>A) c.2134+30G>A (n.2134+30G>A) c.2209+30G>A (n.2209+30G>A) c.2167+30G>A (n.2167+30G>A) c.2131+30G>A (n.2131+30G>A) | dbSNP |
1 | g.10320166G= | CA1153153861 | KIF1B | c.2071+30G= (n.2071+30G=) c.2134+30G= (n.2134+30G=) c.2209+30G= (n.2209+30G=) c.2167+30G= (n.2167+30G=) c.2131+30G= (n.2131+30G=) | |
1 | g.10320167T>C | CA581474 | KIF1B | c.2071+31T>C (n.2071+31T>C) c.2134+31T>C (n.2134+31T>C) c.2209+31T>C (n.2209+31T>C) c.2167+31T>C (n.2167+31T>C) c.2131+31T>C (n.2131+31T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10320167T= | CA1153153865 | KIF1B | c.2071+31T= (n.2071+31T=) c.2134+31T= (n.2134+31T=) c.2209+31T= (n.2209+31T=) c.2167+31T= (n.2167+31T=) c.2131+31T= (n.2131+31T=) | |
1 | g.10320168A>T | CA2643180123 | KIF1B | c.2071+32A>T (n.2071+32A>T) c.2134+32A>T (n.2134+32A>T) c.2209+32A>T (n.2209+32A>T) c.2167+32A>T (n.2167+32A>T) c.2131+32A>T (n.2131+32A>T) | gnomAD v4 |
1 | g.10320170A= | CA1153153871 | KIF1B | c.2071+34A= (n.2071+34A=) c.2134+34A= (n.2134+34A=) c.2209+34A= (n.2209+34A=) c.2167+34A= (n.2167+34A=) c.2131+34A= (n.2131+34A=) | |
1 | g.10320170A>C | CA2643180126 | KIF1B | c.2071+34A>C (n.2071+34A>C) c.2134+34A>C (n.2134+34A>C) c.2209+34A>C (n.2209+34A>C) c.2167+34A>C (n.2167+34A>C) c.2131+34A>C (n.2131+34A>C) | gnomAD v4 |
1 | g.10320170A>T | CA521146940 | KIF1B | c.2071+34A>T (n.2071+34A>T) c.2134+34A>T (n.2134+34A>T) c.2209+34A>T (n.2209+34A>T) c.2167+34A>T (n.2167+34A>T) c.2131+34A>T (n.2131+34A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10320171T>A | CA2643180127 | KIF1B | c.2071+35T>A (n.2071+35T>A) c.2134+35T>A (n.2134+35T>A) c.2209+35T>A (n.2209+35T>A) c.2167+35T>A (n.2167+35T>A) c.2131+35T>A (n.2131+35T>A) | gnomAD v4 |
1 | g.10320172C>A | CA581475 | KIF1B | c.2071+36C>A (n.2071+36C>A) c.2134+36C>A (n.2134+36C>A) c.2209+36C>A (n.2209+36C>A) c.2167+36C>A (n.2167+36C>A) c.2131+36C>A (n.2131+36C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10320172C= | CA1153153875 | KIF1B | c.2071+36C= (n.2071+36C=) c.2134+36C= (n.2134+36C=) c.2209+36C= (n.2209+36C=) c.2167+36C= (n.2167+36C=) c.2131+36C= (n.2131+36C=) | |
1 | g.10320177del | CA2643180129 | KIF1B | c.2071+41del (n.2071+41del) c.2134+41del (n.2134+41del) c.2209+41del (n.2209+41del) c.2167+41del (n.2167+41del) c.2131+41del (n.2131+41del) | gnomAD v4 |
1 | g.10320175T>G | CA521146941 | KIF1B | c.2071+39T>G (n.2071+39T>G) c.2134+39T>G (n.2134+39T>G) c.2209+39T>G (n.2209+39T>G) c.2167+39T>G (n.2167+39T>G) c.2131+39T>G (n.2131+39T>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10320175T= | CA1153153880 | KIF1B | c.2071+39T= (n.2071+39T=) c.2134+39T= (n.2134+39T=) c.2209+39T= (n.2209+39T=) c.2167+39T= (n.2167+39T=) c.2131+39T= (n.2131+39T=) | |
1 | g.10320175_10320178del | CA2643180130 | KIF1B | c.2071+39_2071+42del (n.2071+39_2071+42del) c.2134+39_2134+42del (n.2134+39_2134+42del) c.2209+39_2209+42del (n.2209+39_2209+42del) c.2167+39_2167+42del (n.2167+39_2167+42del) c.2131+39_2131+42del (n.2131+39_2131+42del) | gnomAD v4 |
1 | g.10320177T>A | CA17831108 | KIF1B | c.2071+41T>A (n.2071+41T>A) c.2134+41T>A (n.2134+41T>A) c.2209+41T>A (n.2209+41T>A) c.2167+41T>A (n.2167+41T>A) c.2131+41T>A (n.2131+41T>A) | dbSNP |
1 | g.10320177T= | CA1153153884 | KIF1B | c.2071+41T= (n.2071+41T=) c.2134+41T= (n.2134+41T=) c.2209+41T= (n.2209+41T=) c.2167+41T= (n.2167+41T=) c.2131+41T= (n.2131+41T=) | |
1 | g.10320178G= | CA1148268879 | KIF1B | c.2071+42G= (n.2071+42G=) c.2134+42G= (n.2134+42G=) c.2209+42G= (n.2209+42G=) c.2167+42G= (n.2167+42G=) c.2131+42G= (n.2131+42G=) | |
1 | g.10320178G>T | CA581476 | KIF1B | c.2071+42G>T (n.2071+42G>T) c.2134+42G>T (n.2134+42G>T) c.2209+42G>T (n.2209+42G>T) c.2167+42G>T (n.2167+42G>T) c.2131+42G>T (n.2131+42G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10320179A>G | CA2643180136 | KIF1B | c.2071+43A>G (n.2071+43A>G) c.2134+43A>G (n.2134+43A>G) c.2209+43A>G (n.2209+43A>G) c.2167+43A>G (n.2167+43A>G) c.2131+43A>G (n.2131+43A>G) | gnomAD v4 |
1 | g.10320181G>T | CA2643180137 | KIF1B | c.2071+45G>T (n.2071+45G>T) c.2134+45G>T (n.2134+45G>T) c.2209+45G>T (n.2209+45G>T) c.2167+45G>T (n.2167+45G>T) c.2131+45G>T (n.2131+45G>T) | gnomAD v4 |
1 | g.10320182T>A | CA2643180139 | KIF1B | c.2071+46T>A (n.2071+46T>A) c.2134+46T>A (n.2134+46T>A) c.2209+46T>A (n.2209+46T>A) c.2167+46T>A (n.2167+46T>A) c.2131+46T>A (n.2131+46T>A) | gnomAD v4 |
1 | g.10320184A= | CA1144008022 | KIF1B | c.2071+48A= (n.2071+48A=) c.2134+48A= (n.2134+48A=) c.2209+48A= (n.2209+48A=) c.2167+48A= (n.2167+48A=) c.2131+48A= (n.2131+48A=) | |
1 | g.10320184A>G | CA581477 | KIF1B | c.2071+48A>G (n.2071+48A>G) c.2134+48A>G (n.2134+48A>G) c.2209+48A>G (n.2209+48A>G) c.2167+48A>G (n.2167+48A>G) c.2131+48A>G (n.2131+48A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10320185T>A | CA2643180142 | KIF1B | c.2071+49T>A (n.2071+49T>A) c.2134+49T>A (n.2134+49T>A) c.2209+49T>A (n.2209+49T>A) c.2167+49T>A (n.2167+49T>A) c.2131+49T>A (n.2131+49T>A) | gnomAD v4 |
1 | g.10320185T>C | CA2574206007 | KIF1B | c.2071+49T>C (n.2071+49T>C) c.2134+49T>C (n.2134+49T>C) c.2209+49T>C (n.2209+49T>C) c.2167+49T>C (n.2167+49T>C) c.2131+49T>C (n.2131+49T>C) | |
1 | g.10320188del | CA2574206011 | KIF1B | c.2071+52del (n.2071+52del) c.2134+52del (n.2134+52del) c.2209+52del (n.2209+52del) c.2167+52del (n.2167+52del) c.2131+52del (n.2131+52del) | |
1 | g.10320187_10320190del | CA2643180144 | KIF1B | c.2071+51_2071+54del (n.2071+51_2071+54del) c.2134+51_2134+54del (n.2134+51_2134+54del) c.2209+51_2209+54del (n.2209+51_2209+54del) c.2167+51_2167+54del (n.2167+51_2167+54del) c.2131+51_2131+54del (n.2131+51_2131+54del) | gnomAD v4 |