| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.10343189_10343192del | CA581829 | KIF1B | c.3495-43_3495-40del (n.3495-43_3495-40del) c.3558-43_3558-40del (n.3558-43_3558-40del) c.3633-43_3633-40del (n.3633-43_3633-40del) c.3591-43_3591-40del (n.3591-43_3591-40del) c.3555-43_3555-40del (n.3555-43_3555-40del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10343192del | CA2643182718 | KIF1B | c.3495-40del (n.3495-40del) c.3558-40del (n.3558-40del) c.3633-40del (n.3633-40del) c.3591-40del (n.3591-40del) c.3555-40del (n.3555-40del) | gnomAD v4 |
| 1 | g.10343192A>G | CA2574206151 | KIF1B | c.3495-40A>G (n.3495-40A>G) c.3558-40A>G (n.3558-40A>G) c.3633-40A>G (n.3633-40A>G) c.3591-40A>G (n.3591-40A>G) c.3555-40A>G (n.3555-40A>G) | gnomAD v4 |
| 1 | g.10343193C>A | CA2643182719 | KIF1B | c.3495-39C>A (n.3495-39C>A) c.3558-39C>A (n.3558-39C>A) c.3633-39C>A (n.3633-39C>A) c.3591-39C>A (n.3591-39C>A) c.3555-39C>A (n.3555-39C>A) | gnomAD v4 |
| 1 | g.10343193C>T | CA2574206152 | KIF1B | c.3495-39C>T (n.3495-39C>T) c.3558-39C>T (n.3558-39C>T) c.3633-39C>T (n.3633-39C>T) c.3591-39C>T (n.3591-39C>T) c.3555-39C>T (n.3555-39C>T) | dbSNP gnomAD v4 |
| 1 | g.10343194T>C | CA581830 | KIF1B | c.3495-38T>C (n.3495-38T>C) c.3558-38T>C (n.3558-38T>C) c.3633-38T>C (n.3633-38T>C) c.3591-38T>C (n.3591-38T>C) c.3555-38T>C (n.3555-38T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.10343194T= | CA1153187007 | KIF1B | c.3495-38T= (n.3495-38T=) c.3558-38T= (n.3558-38T=) c.3633-38T= (n.3633-38T=) c.3591-38T= (n.3591-38T=) c.3555-38T= (n.3555-38T=) | |
| 1 | g.10343196T>C | CA17844106 | KIF1B | c.3495-36T>C (n.3495-36T>C) c.3558-36T>C (n.3558-36T>C) c.3633-36T>C (n.3633-36T>C) c.3591-36T>C (n.3591-36T>C) c.3555-36T>C (n.3555-36T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10343196T= | CA1153187011 | KIF1B | c.3495-36T= (n.3495-36T=) c.3558-36T= (n.3558-36T=) c.3633-36T= (n.3633-36T=) c.3591-36T= (n.3591-36T=) c.3555-36T= (n.3555-36T=) | |
| 1 | g.10343197T>C | CA2643182720 | KIF1B | c.3495-35T>C (n.3495-35T>C) c.3558-35T>C (n.3558-35T>C) c.3633-35T>C (n.3633-35T>C) c.3591-35T>C (n.3591-35T>C) c.3555-35T>C (n.3555-35T>C) | gnomAD v4 |
| 1 | g.10343198T>C | CA884748036 | KIF1B | c.3495-34T>C (n.3495-34T>C) c.3558-34T>C (n.3558-34T>C) c.3633-34T>C (n.3633-34T>C) c.3591-34T>C (n.3591-34T>C) c.3555-34T>C (n.3555-34T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.10343198T= | CA1153187013 | KIF1B | c.3495-34T= (n.3495-34T=) c.3558-34T= (n.3558-34T=) c.3633-34T= (n.3633-34T=) c.3591-34T= (n.3591-34T=) c.3555-34T= (n.3555-34T=) | |
| 1 | g.10343199A= | CA1153187021 | KIF1B | c.3495-33A= (n.3495-33A=) c.3558-33A= (n.3558-33A=) c.3633-33A= (n.3633-33A=) c.3591-33A= (n.3591-33A=) c.3555-33A= (n.3555-33A=) | |
| 1 | g.10343199A>C | CA521151170 | KIF1B | c.3495-33A>C (n.3495-33A>C) c.3558-33A>C (n.3558-33A>C) c.3633-33A>C (n.3633-33A>C) c.3591-33A>C (n.3591-33A>C) c.3555-33A>C (n.3555-33A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10343199A>G | CA1153187025 | KIF1B | c.3495-33A>G (n.3495-33A>G) c.3558-33A>G (n.3558-33A>G) c.3633-33A>G (n.3633-33A>G) c.3591-33A>G (n.3591-33A>G) c.3555-33A>G (n.3555-33A>G) | dbSNP gnomAD v4 |
| 1 | g.10343200T>C | CA2742436682 | KIF1B | c.3495-32T>C (n.3495-32T>C) c.3558-32T>C (n.3558-32T>C) c.3633-32T>C (n.3633-32T>C) c.3591-32T>C (n.3591-32T>C) c.3555-32T>C (n.3555-32T>C) | |
| 1 | g.10343201A>G | CA2643182721 | KIF1B | c.3495-31A>G (n.3495-31A>G) c.3558-31A>G (n.3558-31A>G) c.3633-31A>G (n.3633-31A>G) c.3591-31A>G (n.3591-31A>G) c.3555-31A>G (n.3555-31A>G) | gnomAD v4 |
| 1 | g.10343202G>A | CA1153187030 | KIF1B | c.3495-30G>A (n.3495-30G>A) c.3558-30G>A (n.3558-30G>A) c.3633-30G>A (n.3633-30G>A) c.3591-30G>A (n.3591-30G>A) c.3555-30G>A (n.3555-30G>A) | dbSNP |
| 1 | g.10343202G= | CA1153187029 | KIF1B | c.3495-30G= (n.3495-30G=) c.3558-30G= (n.3558-30G=) c.3633-30G= (n.3633-30G=) c.3591-30G= (n.3591-30G=) c.3555-30G= (n.3555-30G=) | |
| 1 | g.10343203T>C | CA581831 | KIF1B | c.3495-29T>C (n.3495-29T>C) c.3558-29T>C (n.3558-29T>C) c.3633-29T>C (n.3633-29T>C) c.3591-29T>C (n.3591-29T>C) c.3555-29T>C (n.3555-29T>C) | dbSNP ExAC |
| 1 | g.10343203T= | CA1153187033 | KIF1B | c.3495-29T= (n.3495-29T=) c.3558-29T= (n.3558-29T=) c.3633-29T= (n.3633-29T=) c.3591-29T= (n.3591-29T=) c.3555-29T= (n.3555-29T=) | |
| 1 | g.10343204C>A | CA2643182723 | KIF1B | c.3495-28C>A (n.3495-28C>A) c.3558-28C>A (n.3558-28C>A) c.3633-28C>A (n.3633-28C>A) c.3591-28C>A (n.3591-28C>A) c.3555-28C>A (n.3555-28C>A) | gnomAD v4 |
| 1 | g.10343204C>G | CA2643182722 | KIF1B | c.3495-28C>G (n.3495-28C>G) c.3558-28C>G (n.3558-28C>G) c.3633-28C>G (n.3633-28C>G) c.3591-28C>G (n.3591-28C>G) c.3555-28C>G (n.3555-28C>G) | gnomAD v4 |
| 1 | g.10343205T>G | CA2643182724 | KIF1B | c.3495-27T>G (n.3495-27T>G) c.3558-27T>G (n.3558-27T>G) c.3633-27T>G (n.3633-27T>G) c.3591-27T>G (n.3591-27T>G) c.3555-27T>G (n.3555-27T>G) | gnomAD v4 |
| 1 | g.10343206T>C | CA521151171 | KIF1B | c.3495-26T>C (n.3495-26T>C) c.3558-26T>C (n.3558-26T>C) c.3633-26T>C (n.3633-26T>C) c.3591-26T>C (n.3591-26T>C) c.3555-26T>C (n.3555-26T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10343206T>G | CA2574206155 | KIF1B | c.3495-26T>G (n.3495-26T>G) c.3558-26T>G (n.3558-26T>G) c.3633-26T>G (n.3633-26T>G) c.3591-26T>G (n.3591-26T>G) c.3555-26T>G (n.3555-26T>G) | gnomAD v4 |
| 1 | g.10343206T= | CA1153187035 | KIF1B | c.3495-26T= (n.3495-26T=) c.3558-26T= (n.3558-26T=) c.3633-26T= (n.3633-26T=) c.3591-26T= (n.3591-26T=) c.3555-26T= (n.3555-26T=) | |
| 1 | g.10343207G>C | CA2643182725 | KIF1B | c.3495-25G>C (n.3495-25G>C) c.3558-25G>C (n.3558-25G>C) c.3633-25G>C (n.3633-25G>C) c.3591-25G>C (n.3591-25G>C) c.3555-25G>C (n.3555-25G>C) | gnomAD v4 |
| 1 | g.10343207G= | CA1143961606 | KIF1B | c.3495-25G= (n.3495-25G=) c.3558-25G= (n.3558-25G=) c.3633-25G= (n.3633-25G=) c.3591-25G= (n.3591-25G=) c.3555-25G= (n.3555-25G=) | |
| 1 | g.10343207G>T | CA581832 | KIF1B | c.3495-25G>T (n.3495-25G>T) c.3558-25G>T (n.3558-25G>T) c.3633-25G>T (n.3633-25G>T) c.3591-25G>T (n.3591-25G>T) c.3555-25G>T (n.3555-25G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10343210C>G | CA2643182726 | KIF1B | c.3495-22C>G (n.3495-22C>G) c.3558-22C>G (n.3558-22C>G) c.3633-22C>G (n.3633-22C>G) c.3591-22C>G (n.3591-22C>G) c.3555-22C>G (n.3555-22C>G) | gnomAD v4 |
| 1 | g.10343212_10343213del | CA2643182727 | KIF1B | c.3495-20_3495-19del (n.3495-20_3495-19del) c.3558-20_3558-19del (n.3558-20_3558-19del) c.3633-20_3633-19del (n.3633-20_3633-19del) c.3591-20_3591-19del (n.3591-20_3591-19del) c.3555-20_3555-19del (n.3555-20_3555-19del) | gnomAD v4 |
| 1 | g.10343212T>G | CA2574206156 | KIF1B | c.3495-20T>G (n.3495-20T>G) c.3558-20T>G (n.3558-20T>G) c.3633-20T>G (n.3633-20T>G) c.3591-20T>G (n.3591-20T>G) c.3555-20T>G (n.3555-20T>G) | ClinVar |
| 1 | g.10343213T>C | CA17844112 | KIF1B | c.3495-19T>C (n.3495-19T>C) c.3558-19T>C (n.3558-19T>C) c.3633-19T>C (n.3633-19T>C) c.3591-19T>C (n.3591-19T>C) c.3555-19T>C (n.3555-19T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.10343213T= | CA1153187039 | KIF1B | c.3495-19T= (n.3495-19T=) c.3558-19T= (n.3558-19T=) c.3633-19T= (n.3633-19T=) c.3591-19T= (n.3591-19T=) c.3555-19T= (n.3555-19T=) | |
| 1 | g.10343214G>A | CA17844114 | KIF1B | c.3495-18G>A (n.3495-18G>A) c.3558-18G>A (n.3558-18G>A) c.3633-18G>A (n.3633-18G>A) c.3591-18G>A (n.3591-18G>A) c.3555-18G>A (n.3555-18G>A) | dbSNP |
| 1 | g.10343214G= | CA1153187040 | KIF1B | c.3495-18G= (n.3495-18G=) c.3558-18G= (n.3558-18G=) c.3633-18G= (n.3633-18G=) c.3591-18G= (n.3591-18G=) c.3555-18G= (n.3555-18G=) | |
| 1 | g.10343215T>C | CA2643182728 | KIF1B | c.3495-17T>C (n.3495-17T>C) c.3558-17T>C (n.3558-17T>C) c.3633-17T>C (n.3633-17T>C) c.3591-17T>C (n.3591-17T>C) c.3555-17T>C (n.3555-17T>C) | gnomAD v4 |
| 1 | g.10343216C= | CA1153187041 | KIF1B | c.3495-16C= (n.3495-16C=) c.3558-16C= (n.3558-16C=) c.3633-16C= (n.3633-16C=) c.3591-16C= (n.3591-16C=) c.3555-16C= (n.3555-16C=) | |
| 1 | g.10343216C>T | CA1153187043 | KIF1B | c.3495-16C>T (n.3495-16C>T) c.3558-16C>T (n.3558-16C>T) c.3633-16C>T (n.3633-16C>T) c.3591-16C>T (n.3591-16C>T) c.3555-16C>T (n.3555-16C>T) | dbSNP |
| 1 | g.10343218T>C | CA2574206157 | KIF1B | c.3495-14T>C (n.3495-14T>C) c.3558-14T>C (n.3558-14T>C) c.3633-14T>C (n.3633-14T>C) c.3591-14T>C (n.3591-14T>C) c.3555-14T>C (n.3555-14T>C) | ClinVar gnomAD v4 |
| 1 | g.10343220C>T | CA2574206158 | KIF1B | c.3495-12C>T (n.3495-12C>T) c.3558-12C>T (n.3558-12C>T) c.3633-12C>T (n.3633-12C>T) c.3591-12C>T (n.3591-12C>T) c.3555-12C>T (n.3555-12C>T) | |
| 1 | g.10343221T>A | CA2574206159 | KIF1B | c.3495-11T>A (n.3495-11T>A) c.3558-11T>A (n.3558-11T>A) c.3633-11T>A (n.3633-11T>A) c.3591-11T>A (n.3591-11T>A) c.3555-11T>A (n.3555-11T>A) | |
| 1 | g.10343222T>G | CA2574206161 | KIF1B | c.3495-10T>G (n.3495-10T>G) c.3558-10T>G (n.3558-10T>G) c.3633-10T>G (n.3633-10T>G) c.3591-10T>G (n.3591-10T>G) c.3555-10T>G (n.3555-10T>G) | |
| 1 | g.10343227T>C | CA2574206162 | KIF1B | c.3495-5T>C (n.3495-5T>C) c.3558-5T>C (n.3558-5T>C) c.3633-5T>C (n.3633-5T>C) c.3591-5T>C (n.3591-5T>C) c.3555-5T>C (n.3555-5T>C) | ClinVar gnomAD v4 |
| 1 | g.10343228G= | CA1153187045 | KIF1B | c.3495-4G= (n.3495-4G=) c.3558-4G= (n.3558-4G=) c.3633-4G= (n.3633-4G=) c.3591-4G= (n.3591-4G=) c.3555-4G= (n.3555-4G=) | |
| 1 | g.10343228G>T | CA17844116 | KIF1B | c.3495-4G>T (n.3495-4G>T) c.3558-4G>T (n.3558-4G>T) c.3633-4G>T (n.3633-4G>T) c.3591-4G>T (n.3591-4G>T) c.3555-4G>T (n.3555-4G>T) | dbSNP |
| 1 | g.10343229C= | CA1144020882 | KIF1B | c.3495-3C= (n.3495-3C=) c.3558-3C= (n.3558-3C=) c.3633-3C= (n.3633-3C=) c.3591-3C= (n.3591-3C=) c.3555-3C= (n.3555-3C=) | |
| 1 | g.10343229C>T | CA17844117 | KIF1B | c.3495-3C>T (n.3495-3C>T) c.3558-3C>T (n.3558-3C>T) c.3633-3C>T (n.3633-3C>T) c.3591-3C>T (n.3591-3C>T) c.3555-3C>T (n.3555-3C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10343230A>C | CA338342050 | KIF1B | c.3495-2A>C (n.3495-2A>C) c.3558-2A>C (n.3558-2A>C) c.3633-2A>C (n.3633-2A>C) c.3591-2A>C (n.3591-2A>C) c.3555-2A>C (n.3555-2A>C) | |
| 1 | g.10343230A>G | CA338342051 | KIF1B | c.3495-2A>G (n.3495-2A>G) c.3558-2A>G (n.3558-2A>G) c.3633-2A>G (n.3633-2A>G) c.3591-2A>G (n.3591-2A>G) c.3555-2A>G (n.3555-2A>G) | |
| 1 | g.10343230A>T | CA338342052 | KIF1B | c.3495-2A>T (n.3495-2A>T) c.3558-2A>T (n.3558-2A>T) c.3633-2A>T (n.3633-2A>T) c.3591-2A>T (n.3591-2A>T) c.3555-2A>T (n.3555-2A>T) | |
| 1 | g.10343231G>A | CA338342055 | KIF1B | c.3495-1G>A (n.3495-1G>A) c.3558-1G>A (n.3558-1G>A) c.3633-1G>A (n.3633-1G>A) c.3591-1G>A (n.3591-1G>A) c.3555-1G>A (n.3555-1G>A) | |
| 1 | g.10343231G>C | CA338342054 | KIF1B | c.3495-1G>C (n.3495-1G>C) c.3558-1G>C (n.3558-1G>C) c.3633-1G>C (n.3633-1G>C) c.3591-1G>C (n.3591-1G>C) c.3555-1G>C (n.3555-1G>C) | |
| 1 | g.10343231G>T | CA338342053 | KIF1B | c.3495-1G>T (n.3495-1G>T) c.3558-1G>T (n.3558-1G>T) c.3633-1G>T (n.3633-1G>T) c.3591-1G>T (n.3591-1G>T) c.3555-1G>T (n.3555-1G>T) | |
| 1 | g.10343232T>A | CA338342056 | KIF1B | c.3495T>A (p.Ser1165Arg) c.3558T>A (p.Ser1186Arg) c.3633T>A (p.Ser1211Arg) c.3591T>A (p.Ser1197Arg) c.3555T>A (p.Ser1185Arg) | |
| 1 | g.10343232T>C | CA415884317 | KIF1B | c.3495T>C (p.Ser1165=) c.3558T>C (p.Ser1186=) c.3633T>C (p.Ser1211=) c.3591T>C (p.Ser1197=) c.3555T>C (p.Ser1185=) | dbSNP gnomAD v4 |
| 1 | g.10343232T>G | CA338342057 | KIF1B | c.3495T>G (p.Ser1165Arg) c.3558T>G (p.Ser1186Arg) c.3633T>G (p.Ser1211Arg) c.3591T>G (p.Ser1197Arg) c.3555T>G (p.Ser1185Arg) | |
| 1 | g.10343232T= | CA1153187047 | KIF1B | c.3495T= (p.Ser1165=) c.3558T= (p.Ser1186=) c.3633T= (p.Ser1211=) c.3591T= (p.Ser1197=) c.3555T= (p.Ser1185=) | |
| 1 | g.10343233C>A | CA338342058 | KIF1B | c.3496C>A (p.Pro1166Thr) c.3559C>A (p.Pro1187Thr) c.3634C>A (p.Pro1212Thr) c.3592C>A (p.Pro1198Thr) c.3556C>A (p.Pro1186Thr) | ClinVar gnomAD v4 |
| 1 | g.10343233C= | CA1153187055 | KIF1B | c.3496C= (p.Pro1166=) c.3559C= (p.Pro1187=) c.3634C= (p.Pro1212=) c.3592C= (p.Pro1198=) c.3556C= (p.Pro1186=) | |
| 1 | g.10343233C>G | CA338342059 | KIF1B | c.3496C>G (p.Pro1166Ala) c.3559C>G (p.Pro1187Ala) c.3634C>G (p.Pro1212Ala) c.3592C>G (p.Pro1198Ala) c.3556C>G (p.Pro1186Ala) | dbSNP gnomAD v2 |
| 1 | g.10343233C>T | CA338342060 | KIF1B | c.3496C>T (p.Pro1166Ser) c.3559C>T (p.Pro1187Ser) c.3634C>T (p.Pro1212Ser) c.3592C>T (p.Pro1198Ser) c.3556C>T (p.Pro1186Ser) | |
| 1 | g.10343234C>A | CA338342061 | KIF1B | c.3497C>A (p.Pro1166Gln) c.3560C>A (p.Pro1187Gln) c.3635C>A (p.Pro1212Gln) c.3593C>A (p.Pro1198Gln) c.3557C>A (p.Pro1186Gln) | |
| 1 | g.10343234C= | CA1141790982 | KIF1B | c.3497C= (p.Pro1166=) c.3560C= (p.Pro1187=) c.3635C= (p.Pro1212=) c.3593C= (p.Pro1198=) c.3557C= (p.Pro1186=) | |
| 1 | g.10343234C>G | CA338342062 | KIF1B | c.3497C>G (p.Pro1166Arg) c.3560C>G (p.Pro1187Arg) c.3635C>G (p.Pro1212Arg) c.3593C>G (p.Pro1198Arg) c.3557C>G (p.Pro1186Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.10343234C>T | CA337445 | KIF1B | c.3497C>T (p.Pro1166Leu) c.3560C>T (p.Pro1187Leu) c.3635C>T (p.Pro1212Leu) c.3593C>T (p.Pro1198Leu) c.3557C>T (p.Pro1186Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10343235G>A | CA581833 | KIF1B | c.3498G>A (p.Pro1166=) c.3561G>A (p.Pro1187=) c.3636G>A (p.Pro1212=) c.3594G>A (p.Pro1198=) c.3558G>A (p.Pro1186=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10343235G>C | CA415884318 | KIF1B | c.3498G>C (p.Pro1166=) c.3561G>C (p.Pro1187=) c.3636G>C (p.Pro1212=) c.3594G>C (p.Pro1198=) c.3558G>C (p.Pro1186=) | gnomAD v4 |
| 1 | g.10343235G= | CA1141729469 | KIF1B | c.3498G= (p.Pro1166=) c.3561G= (p.Pro1187=) c.3636G= (p.Pro1212=) c.3594G= (p.Pro1198=) c.3558G= (p.Pro1186=) | |
| 1 | g.10343235G>T | CA415884319 | KIF1B | c.3498G>T (p.Pro1166=) c.3561G>T (p.Pro1187=) c.3636G>T (p.Pro1212=) c.3594G>T (p.Pro1198=) c.3558G>T (p.Pro1186=) | ClinVar gnomAD v4 |
| 1 | g.10343236C>A | CA338342063 | KIF1B | c.3499C>A (p.Pro1167Thr) c.3562C>A (p.Pro1188Thr) c.3637C>A (p.Pro1213Thr) c.3595C>A (p.Pro1199Thr) c.3559C>A (p.Pro1187Thr) | |
| 1 | g.10343236C>G | CA338342064 | KIF1B | c.3499C>G (p.Pro1167Ala) c.3562C>G (p.Pro1188Ala) c.3637C>G (p.Pro1213Ala) c.3595C>G (p.Pro1199Ala) c.3559C>G (p.Pro1187Ala) | |
| 1 | g.10343236C>T | CA338342065 | KIF1B | c.3499C>T (p.Pro1167Ser) c.3562C>T (p.Pro1188Ser) c.3637C>T (p.Pro1213Ser) c.3595C>T (p.Pro1199Ser) c.3559C>T (p.Pro1187Ser) | |
| 1 | g.10343237C>A | CA338342066 | KIF1B | c.3500C>A (p.Pro1167His) c.3563C>A (p.Pro1188His) c.3638C>A (p.Pro1213His) c.3596C>A (p.Pro1199His) c.3560C>A (p.Pro1187His) | ClinVar |
| 1 | g.10343237C>G | CA338342068 | KIF1B | c.3500C>G (p.Pro1167Arg) c.3563C>G (p.Pro1188Arg) c.3638C>G (p.Pro1213Arg) c.3596C>G (p.Pro1199Arg) c.3560C>G (p.Pro1187Arg) | |
| 1 | g.10343237C>T | CA338342067 | KIF1B | c.3500C>T (p.Pro1167Leu) c.3563C>T (p.Pro1188Leu) c.3638C>T (p.Pro1213Leu) c.3596C>T (p.Pro1199Leu) c.3560C>T (p.Pro1187Leu) | ClinVar |
| 1 | g.10343238T>A | CA415884320 | KIF1B | c.3501T>A (p.Pro1167=) c.3564T>A (p.Pro1188=) c.3639T>A (p.Pro1213=) c.3597T>A (p.Pro1199=) c.3561T>A (p.Pro1187=) | |
| 1 | g.10343238T>C | CA415884321 | KIF1B | c.3501T>C (p.Pro1167=) c.3564T>C (p.Pro1188=) c.3639T>C (p.Pro1213=) c.3597T>C (p.Pro1199=) c.3561T>C (p.Pro1187=) | |
| 1 | g.10343238T>G | CA415884322 | KIF1B | c.3501T>G (p.Pro1167=) c.3564T>G (p.Pro1188=) c.3639T>G (p.Pro1213=) c.3597T>G (p.Pro1199=) c.3561T>G (p.Pro1187=) | |
| 1 | g.10343239C>A | CA338342069 | KIF1B | c.3502C>A (p.Gln1168Lys) c.3565C>A (p.Gln1189Lys) c.3640C>A (p.Gln1214Lys) c.3598C>A (p.Gln1200Lys) c.3562C>A (p.Gln1188Lys) | |
| 1 | g.10343239C>G | CA338342071 | KIF1B | c.3502C>G (p.Gln1168Glu) c.3565C>G (p.Gln1189Glu) c.3640C>G (p.Gln1214Glu) c.3598C>G (p.Gln1200Glu) c.3562C>G (p.Gln1188Glu) | |
| 1 | g.10343239C>T | CA338342070 | KIF1B | c.3502C>T (p.Gln1168Ter) c.3565C>T (p.Gln1189Ter) c.3640C>T (p.Gln1214Ter) c.3598C>T (p.Gln1200Ter) c.3562C>T (p.Gln1188Ter) | gnomAD v4 COSMIC |
| 1 | g.10343240A>C | CA338342072 | KIF1B | c.3503A>C (p.Gln1168Pro) c.3566A>C (p.Gln1189Pro) c.3641A>C (p.Gln1214Pro) c.3599A>C (p.Gln1200Pro) c.3563A>C (p.Gln1188Pro) | |
| 1 | g.10343240A>G | CA338342073 | KIF1B | c.3503A>G (p.Gln1168Arg) c.3566A>G (p.Gln1189Arg) c.3641A>G (p.Gln1214Arg) c.3599A>G (p.Gln1200Arg) c.3563A>G (p.Gln1188Arg) | |
| 1 | g.10343240A>T | CA338342074 | KIF1B | c.3503A>T (p.Gln1168Leu) c.3566A>T (p.Gln1189Leu) c.3641A>T (p.Gln1214Leu) c.3599A>T (p.Gln1200Leu) c.3563A>T (p.Gln1188Leu) | |
| 1 | g.10343241G>A | CA581834 | KIF1B | c.3504G>A (p.Gln1168=) c.3567G>A (p.Gln1189=) c.3642G>A (p.Gln1214=) c.3600G>A (p.Gln1200=) c.3564G>A (p.Gln1188=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.10343241G>C | CA338342075 | KIF1B | c.3504G>C (p.Gln1168His) c.3567G>C (p.Gln1189His) c.3642G>C (p.Gln1214His) c.3600G>C (p.Gln1200His) c.3564G>C (p.Gln1188His) | |
| 1 | g.10343241G= | CA1153187071 | KIF1B | c.3504G= (p.Gln1168=) c.3567G= (p.Gln1189=) c.3642G= (p.Gln1214=) c.3600G= (p.Gln1200=) c.3564G= (p.Gln1188=) | |
| 1 | g.10343241G>T | CA338342076 | KIF1B | c.3504G>T (p.Gln1168His) c.3567G>T (p.Gln1189His) c.3642G>T (p.Gln1214His) c.3600G>T (p.Gln1200His) c.3564G>T (p.Gln1188His) | |
| 1 | g.10343242C>A | CA338342077 | KIF1B | c.3505C>A (p.Pro1169Thr) c.3568C>A (p.Pro1190Thr) c.3643C>A (p.Pro1215Thr) c.3601C>A (p.Pro1201Thr) c.3565C>A (p.Pro1189Thr) | |
| 1 | g.10343242C>G | CA338342078 | KIF1B | c.3505C>G (p.Pro1169Ala) c.3568C>G (p.Pro1190Ala) c.3643C>G (p.Pro1215Ala) c.3601C>G (p.Pro1201Ala) c.3565C>G (p.Pro1189Ala) | |
| 1 | g.10343242C>T | CA338342079 | KIF1B | c.3505C>T (p.Pro1169Ser) c.3568C>T (p.Pro1190Ser) c.3643C>T (p.Pro1215Ser) c.3601C>T (p.Pro1201Ser) c.3565C>T (p.Pro1189Ser) | COSMIC |
| 1 | g.10343243C>A | CA581836 | KIF1B | c.3506C>A (p.Pro1169Gln) c.3569C>A (p.Pro1190Gln) c.3644C>A (p.Pro1215Gln) c.3602C>A (p.Pro1201Gln) c.3566C>A (p.Pro1189Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10343243C= | CA1143651324 | KIF1B | c.3506C= (p.Pro1169=) c.3569C= (p.Pro1190=) c.3644C= (p.Pro1215=) c.3602C= (p.Pro1201=) c.3566C= (p.Pro1189=) | |
| 1 | g.10343243C>G | CA338342080 | KIF1B | c.3506C>G (p.Pro1169Arg) c.3569C>G (p.Pro1190Arg) c.3644C>G (p.Pro1215Arg) c.3602C>G (p.Pro1201Arg) c.3566C>G (p.Pro1189Arg) | |
| 1 | g.10343243C>T | CA581835 | KIF1B | c.3506C>T (p.Pro1169Leu) c.3569C>T (p.Pro1190Leu) c.3644C>T (p.Pro1215Leu) c.3602C>T (p.Pro1201Leu) c.3566C>T (p.Pro1189Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10343244G>A | CA202589 | KIF1B | c.3507G>A (p.Pro1169=) c.3570G>A (p.Pro1190=) c.3645G>A (p.Pro1215=) c.3603G>A (p.Pro1201=) c.3567G>A (p.Pro1189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.10343244G>C | CA415884323 | KIF1B | c.3507G>C (p.Pro1169=) c.3570G>C (p.Pro1190=) c.3645G>C (p.Pro1215=) c.3603G>C (p.Pro1201=) c.3567G>C (p.Pro1189=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10343244G= | CA1142170231 | KIF1B | c.3507G= (p.Pro1169=) c.3570G= (p.Pro1190=) c.3645G= (p.Pro1215=) c.3603G= (p.Pro1201=) c.3567G= (p.Pro1189=) | |
| 1 | g.10343244G>T | CA415884324 | KIF1B | c.3507G>T (p.Pro1169=) c.3570G>T (p.Pro1190=) c.3645G>T (p.Pro1215=) c.3603G>T (p.Pro1201=) c.3567G>T (p.Pro1189=) | |
| 1 | g.10343245T>A | CA338342081 | KIF1B | c.3508T>A (p.Cys1170Ser) c.3571T>A (p.Cys1191Ser) c.3646T>A (p.Cys1216Ser) c.3604T>A (p.Cys1202Ser) c.3568T>A (p.Cys1190Ser) | |
| 1 | g.10343245T>C | CA338342082 | KIF1B | c.3508T>C (p.Cys1170Arg) c.3571T>C (p.Cys1191Arg) c.3646T>C (p.Cys1216Arg) c.3604T>C (p.Cys1202Arg) c.3568T>C (p.Cys1190Arg) | |
| 1 | g.10343245T>G | CA338342083 | KIF1B | c.3508T>G (p.Cys1170Gly) c.3571T>G (p.Cys1191Gly) c.3646T>G (p.Cys1216Gly) c.3604T>G (p.Cys1202Gly) c.3568T>G (p.Cys1190Gly) | |
| 1 | g.10343246G>A | CA338342084 | KIF1B | c.3509G>A (p.Cys1170Tyr) c.3572G>A (p.Cys1191Tyr) c.3647G>A (p.Cys1216Tyr) c.3605G>A (p.Cys1202Tyr) c.3569G>A (p.Cys1190Tyr) | ClinVar |
| 1 | g.10343246G>C | CA338342085 | KIF1B | c.3509G>C (p.Cys1170Ser) c.3572G>C (p.Cys1191Ser) c.3647G>C (p.Cys1216Ser) c.3605G>C (p.Cys1202Ser) c.3569G>C (p.Cys1190Ser) | |
| 1 | g.10343246G>T | CA338342086 | KIF1B | c.3509G>T (p.Cys1170Phe) c.3572G>T (p.Cys1191Phe) c.3647G>T (p.Cys1216Phe) c.3605G>T (p.Cys1202Phe) c.3569G>T (p.Cys1190Phe) | |
| 1 | g.10343247C>A | CA338342087 | KIF1B | c.3510C>A (p.Cys1170Ter) c.3573C>A (p.Cys1191Ter) c.3648C>A (p.Cys1216Ter) c.3606C>A (p.Cys1202Ter) c.3570C>A (p.Cys1190Ter) | |
| 1 | g.10343247C= | CA1153187083 | KIF1B | c.3510C= (p.Cys1170=) c.3573C= (p.Cys1191=) c.3648C= (p.Cys1216=) c.3606C= (p.Cys1202=) c.3570C= (p.Cys1190=) | |
| 1 | g.10343247C>G | CA338342088 | KIF1B | c.3510C>G (p.Cys1170Trp) c.3573C>G (p.Cys1191Trp) c.3648C>G (p.Cys1216Trp) c.3606C>G (p.Cys1202Trp) c.3570C>G (p.Cys1190Trp) | |
| 1 | g.10343247C>T | CA415884325 | KIF1B | c.3510C>T (p.Cys1170=) c.3573C>T (p.Cys1191=) c.3648C>T (p.Cys1216=) c.3606C>T (p.Cys1202=) c.3570C>T (p.Cys1190=) | dbSNP |
| 1 | g.10343248C>A | CA338342089 | KIF1B | c.3511C>A (p.Arg1171Ser) c.3574C>A (p.Arg1192Ser) c.3649C>A (p.Arg1217Ser) c.3607C>A (p.Arg1203Ser) c.3571C>A (p.Arg1191Ser) | gnomAD v4 |
| 1 | g.10343248C= | CA1153187091 | KIF1B | c.3511C= (p.Arg1171=) c.3574C= (p.Arg1192=) c.3649C= (p.Arg1217=) c.3607C= (p.Arg1203=) c.3571C= (p.Arg1191=) | |
| 1 | g.10343248C>G | CA17844126 | KIF1B | c.3511C>G (p.Arg1171Gly) c.3574C>G (p.Arg1192Gly) c.3649C>G (p.Arg1217Gly) c.3607C>G (p.Arg1203Gly) c.3571C>G (p.Arg1191Gly) | ClinVar dbSNP gnomAD v4 |
| 1 | g.10343248C>T | CA581837 | KIF1B | c.3511C>T (p.Arg1171Cys) c.3574C>T (p.Arg1192Cys) c.3649C>T (p.Arg1217Cys) c.3607C>T (p.Arg1203Cys) c.3571C>T (p.Arg1191Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10343249G>A | CA338342091 | KIF1B | c.3512G>A (p.Arg1171His) c.3575G>A (p.Arg1192His) c.3650G>A (p.Arg1217His) c.3608G>A (p.Arg1203His) c.3572G>A (p.Arg1191His) | ClinVar dbSNP gnomAD v4 |
| 1 | g.10343249G>C | CA338342092 | KIF1B | c.3512G>C (p.Arg1171Pro) c.3575G>C (p.Arg1192Pro) c.3650G>C (p.Arg1217Pro) c.3608G>C (p.Arg1203Pro) c.3572G>C (p.Arg1191Pro) | |
| 1 | g.10343249G= | CA1153145213 | KIF1B | c.3512G= (p.Arg1171=) c.3575G= (p.Arg1192=) c.3650G= (p.Arg1217=) c.3608G= (p.Arg1203=) c.3572G= (p.Arg1191=) | |
| 1 | g.10343249G>T | CA338342090 | KIF1B | c.3512G>T (p.Arg1171Leu) c.3575G>T (p.Arg1192Leu) c.3650G>T (p.Arg1217Leu) c.3608G>T (p.Arg1203Leu) c.3572G>T (p.Arg1191Leu) | |
| 1 | g.10343250C>A | CA415884326 | KIF1B | c.3513C>A (p.Arg1171=) c.3576C>A (p.Arg1192=) c.3651C>A (p.Arg1217=) c.3609C>A (p.Arg1203=) c.3573C>A (p.Arg1191=) | |
| 1 | g.10343250C>G | CA415884327 | KIF1B | c.3513C>G (p.Arg1171=) c.3576C>G (p.Arg1192=) c.3651C>G (p.Arg1217=) c.3609C>G (p.Arg1203=) c.3573C>G (p.Arg1191=) | gnomAD v4 |
| 1 | g.10343250C>T | CA415884328 | KIF1B | c.3513C>T (p.Arg1171=) c.3576C>T (p.Arg1192=) c.3651C>T (p.Arg1217=) c.3609C>T (p.Arg1203=) c.3573C>T (p.Arg1191=) | |
| 1 | g.10343251C>A | CA415884329 | KIF1B | c.3514C>A (p.Arg1172=) c.3577C>A (p.Arg1193=) c.3652C>A (p.Arg1218=) c.3610C>A (p.Arg1204=) c.3574C>A (p.Arg1192=) | |
| 1 | g.10343251C>G | CA338342093 | KIF1B | c.3514C>G (p.Arg1172Gly) c.3577C>G (p.Arg1193Gly) c.3652C>G (p.Arg1218Gly) c.3610C>G (p.Arg1204Gly) c.3574C>G (p.Arg1192Gly) | |
| 1 | g.10343251C>T | CA338342094 | KIF1B | c.3514C>T (p.Arg1172Ter) c.3577C>T (p.Arg1193Ter) c.3652C>T (p.Arg1218Ter) c.3610C>T (p.Arg1204Ter) c.3574C>T (p.Arg1192Ter) | COSMIC |
| 1 | g.10343252G>A | CA338342095 | KIF1B | c.3515G>A (p.Arg1172Gln) c.3578G>A (p.Arg1193Gln) c.3653G>A (p.Arg1218Gln) c.3611G>A (p.Arg1204Gln) c.3575G>A (p.Arg1192Gln) | ClinVar dbSNP gnomAD v4 |
| 1 | g.10343252G>C | CA338342096 | KIF1B | c.3515G>C (p.Arg1172Pro) c.3578G>C (p.Arg1193Pro) c.3653G>C (p.Arg1218Pro) c.3611G>C (p.Arg1204Pro) c.3575G>C (p.Arg1192Pro) | ClinVar |
| 1 | g.10343252G>T | CA338342097 | KIF1B | c.3515G>T (p.Arg1172Leu) c.3578G>T (p.Arg1193Leu) c.3653G>T (p.Arg1218Leu) c.3611G>T (p.Arg1204Leu) c.3575G>T (p.Arg1192Leu) | ClinVar |
| 1 | g.10343253A= | CA1153145214 | KIF1B | c.3516A= (p.Arg1172=) c.3579A= (p.Arg1193=) c.3654A= (p.Arg1218=) c.3612A= (p.Arg1204=) c.3576A= (p.Arg1192=) | |
| 1 | g.10343253A>C | CA415884330 | KIF1B | c.3516A>C (p.Arg1172=) c.3579A>C (p.Arg1193=) c.3654A>C (p.Arg1218=) c.3612A>C (p.Arg1204=) c.3576A>C (p.Arg1192=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10343253A>G | CA10607306 | KIF1B | c.3516A>G (p.Arg1172=) c.3579A>G (p.Arg1193=) c.3654A>G (p.Arg1218=) c.3612A>G (p.Arg1204=) c.3576A>G (p.Arg1192=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.10343253A>T | CA415884331 | KIF1B | c.3516A>T (p.Arg1172=) c.3579A>T (p.Arg1193=) c.3654A>T (p.Arg1218=) c.3612A>T (p.Arg1204=) c.3576A>T (p.Arg1192=) | |
| 1 | g.10343254T>A | CA338342100 | KIF1B | c.3517T>A (p.Phe1173Ile) c.3580T>A (p.Phe1194Ile) c.3655T>A (p.Phe1219Ile) c.3613T>A (p.Phe1205Ile) c.3577T>A (p.Phe1193Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10343254T>C | CA338342098 | KIF1B | c.3517T>C (p.Phe1173Leu) c.3580T>C (p.Phe1194Leu) c.3655T>C (p.Phe1219Leu) c.3613T>C (p.Phe1205Leu) c.3577T>C (p.Phe1193Leu) | |
| 1 | g.10343254T>G | CA338342099 | KIF1B | c.3517T>G (p.Phe1173Val) c.3580T>G (p.Phe1194Val) c.3655T>G (p.Phe1219Val) c.3613T>G (p.Phe1205Val) c.3577T>G (p.Phe1193Val) | |
| 1 | g.10343254T= | CA1153145215 | KIF1B | c.3517T= (p.Phe1173=) c.3580T= (p.Phe1194=) c.3655T= (p.Phe1219=) c.3613T= (p.Phe1205=) c.3577T= (p.Phe1193=) | |
| 1 | g.10343255T>A | CA338342101 | KIF1B | c.3518T>A (p.Phe1173Tyr) c.3581T>A (p.Phe1194Tyr) c.3656T>A (p.Phe1219Tyr) c.3614T>A (p.Phe1205Tyr) c.3578T>A (p.Phe1193Tyr) | |
| 1 | g.10343255T>C | CA338342102 | KIF1B | c.3518T>C (p.Phe1173Ser) c.3581T>C (p.Phe1194Ser) c.3656T>C (p.Phe1219Ser) c.3614T>C (p.Phe1205Ser) c.3578T>C (p.Phe1193Ser) | |
| 1 | g.10343255T>G | CA338342103 | KIF1B | c.3518T>G (p.Phe1173Cys) c.3581T>G (p.Phe1194Cys) c.3656T>G (p.Phe1219Cys) c.3614T>G (p.Phe1205Cys) c.3578T>G (p.Phe1193Cys) | |
| 1 | g.10343256C>A | CA338342104 | KIF1B | c.3519C>A (p.Phe1173Leu) c.3582C>A (p.Phe1194Leu) c.3657C>A (p.Phe1219Leu) c.3615C>A (p.Phe1205Leu) c.3579C>A (p.Phe1193Leu) | |
| 1 | g.10343256C>G | CA338342105 | KIF1B | c.3519C>G (p.Phe1173Leu) c.3582C>G (p.Phe1194Leu) c.3657C>G (p.Phe1219Leu) c.3615C>G (p.Phe1205Leu) c.3579C>G (p.Phe1193Leu) | |
| 1 | g.10343256C>T | CA415884332 | KIF1B | c.3519C>T (p.Phe1173=) c.3582C>T (p.Phe1194=) c.3657C>T (p.Phe1219=) c.3615C>T (p.Phe1205=) c.3579C>T (p.Phe1193=) | |
| 1 | g.10343257T>A | CA338342106 | KIF1B | c.3520T>A (p.Phe1174Ile) c.3583T>A (p.Phe1195Ile) c.3658T>A (p.Phe1220Ile) c.3616T>A (p.Phe1206Ile) c.3580T>A (p.Phe1194Ile) | |
| 1 | g.10343257T>C | CA338342108 | KIF1B | c.3520T>C (p.Phe1174Leu) c.3583T>C (p.Phe1195Leu) c.3658T>C (p.Phe1220Leu) c.3616T>C (p.Phe1206Leu) c.3580T>C (p.Phe1194Leu) | ClinVar |
| 1 | g.10343257T>G | CA338342107 | KIF1B | c.3520T>G (p.Phe1174Val) c.3583T>G (p.Phe1195Val) c.3658T>G (p.Phe1220Val) c.3616T>G (p.Phe1206Val) c.3580T>G (p.Phe1194Val) | |
| 1 | g.10343258T>A | CA338342109 | KIF1B | c.3521T>A (p.Phe1174Tyr) c.3584T>A (p.Phe1195Tyr) c.3659T>A (p.Phe1220Tyr) c.3617T>A (p.Phe1206Tyr) c.3581T>A (p.Phe1194Tyr) | |
| 1 | g.10343258T>C | CA338342110 | KIF1B | c.3521T>C (p.Phe1174Ser) c.3584T>C (p.Phe1195Ser) c.3659T>C (p.Phe1220Ser) c.3617T>C (p.Phe1206Ser) c.3581T>C (p.Phe1194Ser) | |
| 1 | g.10343258T>G | CA338342111 | KIF1B | c.3521T>G (p.Phe1174Cys) c.3584T>G (p.Phe1195Cys) c.3659T>G (p.Phe1220Cys) c.3617T>G (p.Phe1206Cys) c.3581T>G (p.Phe1194Cys) | |
| 1 | g.10343259C>A | CA338342112 | KIF1B | c.3522C>A (p.Phe1174Leu) c.3585C>A (p.Phe1195Leu) c.3660C>A (p.Phe1220Leu) c.3618C>A (p.Phe1206Leu) c.3582C>A (p.Phe1194Leu) | |
| 1 | g.10343259C>G | CA338342113 | KIF1B | c.3522C>G (p.Phe1174Leu) c.3585C>G (p.Phe1195Leu) c.3660C>G (p.Phe1220Leu) c.3618C>G (p.Phe1206Leu) c.3582C>G (p.Phe1194Leu) | gnomAD v4 |
| 1 | g.10343259C>T | CA415884333 | KIF1B | c.3522C>T (p.Phe1174=) c.3585C>T (p.Phe1195=) c.3660C>T (p.Phe1220=) c.3618C>T (p.Phe1206=) c.3582C>T (p.Phe1194=) | ClinVar |
| 1 | g.10343260C>A | CA338342114 | KIF1B | c.3523C>A (p.Pro1175Thr) c.3586C>A (p.Pro1196Thr) c.3661C>A (p.Pro1221Thr) c.3619C>A (p.Pro1207Thr) c.3583C>A (p.Pro1195Thr) | |
| 1 | g.10343260C>G | CA338342115 | KIF1B | c.3523C>G (p.Pro1175Ala) c.3586C>G (p.Pro1196Ala) c.3661C>G (p.Pro1221Ala) c.3619C>G (p.Pro1207Ala) c.3583C>G (p.Pro1195Ala) | |
| 1 | g.10343260C>T | CA338342116 | KIF1B | c.3523C>T (p.Pro1175Ser) c.3586C>T (p.Pro1196Ser) c.3661C>T (p.Pro1221Ser) c.3619C>T (p.Pro1207Ser) c.3583C>T (p.Pro1195Ser) | |
| 1 | g.10343261C>A | CA338342117 | KIF1B | c.3524C>A (p.Pro1175His) c.3587C>A (p.Pro1196His) c.3662C>A (p.Pro1221His) c.3620C>A (p.Pro1207His) c.3584C>A (p.Pro1195His) | |
| 1 | g.10343261C>G | CA338342118 | KIF1B | c.3524C>G (p.Pro1175Arg) c.3587C>G (p.Pro1196Arg) c.3662C>G (p.Pro1221Arg) c.3620C>G (p.Pro1207Arg) c.3584C>G (p.Pro1195Arg) | |
| 1 | g.10343261C>T | CA338342119 | KIF1B | c.3524C>T (p.Pro1175Leu) c.3587C>T (p.Pro1196Leu) c.3662C>T (p.Pro1221Leu) c.3620C>T (p.Pro1207Leu) c.3584C>T (p.Pro1195Leu) | gnomAD v4 |
| 1 | g.10343262T>A | CA415884334 | KIF1B | c.3525T>A (p.Pro1175=) c.3588T>A (p.Pro1196=) c.3663T>A (p.Pro1221=) c.3621T>A (p.Pro1207=) c.3585T>A (p.Pro1195=) | |
| 1 | g.10343262T>C | CA415884336 | KIF1B | c.3525T>C (p.Pro1175=) c.3588T>C (p.Pro1196=) c.3663T>C (p.Pro1221=) c.3621T>C (p.Pro1207=) c.3585T>C (p.Pro1195=) | |
| 1 | g.10343262T>G | CA415884335 | KIF1B | c.3525T>G (p.Pro1175=) c.3588T>G (p.Pro1196=) c.3663T>G (p.Pro1221=) c.3621T>G (p.Pro1207=) c.3585T>G (p.Pro1195=) | |
| 1 | g.10343263C>A | CA338342122 | KIF1B | c.3526C>A (p.Pro1176Thr) c.3589C>A (p.Pro1197Thr) c.3664C>A (p.Pro1222Thr) c.3622C>A (p.Pro1208Thr) c.3586C>A (p.Pro1196Thr) | |
| 1 | g.10343263C= | CA1153145216 | KIF1B | c.3526C= (p.Pro1176=) c.3589C= (p.Pro1197=) c.3664C= (p.Pro1222=) c.3622C= (p.Pro1208=) c.3586C= (p.Pro1196=) | |
| 1 | g.10343263C>G | CA338342121 | KIF1B | c.3526C>G (p.Pro1176Ala) c.3589C>G (p.Pro1197Ala) c.3664C>G (p.Pro1222Ala) c.3622C>G (p.Pro1208Ala) c.3586C>G (p.Pro1196Ala) | ClinVar dbSNP |
| 1 | g.10343263C>T | CA338342120 | KIF1B | c.3526C>T (p.Pro1176Ser) c.3589C>T (p.Pro1197Ser) c.3664C>T (p.Pro1222Ser) c.3622C>T (p.Pro1208Ser) c.3586C>T (p.Pro1196Ser) | gnomAD v4 |
| 1 | g.10343264C>A | CA338342123 | KIF1B | c.3527C>A (p.Pro1176Gln) c.3590C>A (p.Pro1197Gln) c.3665C>A (p.Pro1222Gln) c.3623C>A (p.Pro1208Gln) c.3587C>A (p.Pro1196Gln) | |
| 1 | g.10343264C>G | CA338342125 | KIF1B | c.3527C>G (p.Pro1176Arg) c.3590C>G (p.Pro1197Arg) c.3665C>G (p.Pro1222Arg) c.3623C>G (p.Pro1208Arg) c.3587C>G (p.Pro1196Arg) | |
| 1 | g.10343264C>T | CA338342124 | KIF1B | c.3527C>T (p.Pro1176Leu) c.3590C>T (p.Pro1197Leu) c.3665C>T (p.Pro1222Leu) c.3623C>T (p.Pro1208Leu) c.3587C>T (p.Pro1196Leu) | ClinVar gnomAD v4 |
| 1 | g.10343265A>C | CA415884337 | KIF1B | c.3528A>C (p.Pro1176=) c.3591A>C (p.Pro1197=) c.3666A>C (p.Pro1222=) c.3624A>C (p.Pro1208=) c.3588A>C (p.Pro1196=) | |
| 1 | g.10343265A>G | CA415884338 | KIF1B | c.3528A>G (p.Pro1176=) c.3591A>G (p.Pro1197=) c.3666A>G (p.Pro1222=) c.3624A>G (p.Pro1208=) c.3588A>G (p.Pro1196=) | ClinVar |
| 1 | g.10343265A>T | CA415884339 | KIF1B | c.3528A>T (p.Pro1176=) c.3591A>T (p.Pro1197=) c.3666A>T (p.Pro1222=) c.3624A>T (p.Pro1208=) c.3588A>T (p.Pro1196=) | |
| 1 | g.10343266C>A | CA338342126 | KIF1B | c.3529C>A (p.Pro1177Thr) c.3592C>A (p.Pro1198Thr) c.3667C>A (p.Pro1223Thr) c.3625C>A (p.Pro1209Thr) c.3589C>A (p.Pro1197Thr) | |
| 1 | g.10343266C>G | CA338342128 | KIF1B | c.3529C>G (p.Pro1177Ala) c.3592C>G (p.Pro1198Ala) c.3667C>G (p.Pro1223Ala) c.3625C>G (p.Pro1209Ala) c.3589C>G (p.Pro1197Ala) | |
| 1 | g.10343266C>T | CA338342127 | KIF1B | c.3529C>T (p.Pro1177Ser) c.3592C>T (p.Pro1198Ser) c.3667C>T (p.Pro1223Ser) c.3625C>T (p.Pro1209Ser) c.3589C>T (p.Pro1197Ser) | |
| 1 | g.10343267C>A | CA338342129 | KIF1B | c.3530C>A (p.Pro1177His) c.3593C>A (p.Pro1198His) c.3668C>A (p.Pro1223His) c.3626C>A (p.Pro1209His) c.3590C>A (p.Pro1197His) | |
| 1 | g.10343267C= | CA1153145217 | KIF1B | c.3530C= (p.Pro1177=) c.3593C= (p.Pro1198=) c.3668C= (p.Pro1223=) c.3626C= (p.Pro1209=) c.3590C= (p.Pro1197=) | |
| 1 | g.10343267C>G | CA338342130 | KIF1B | c.3530C>G (p.Pro1177Arg) c.3593C>G (p.Pro1198Arg) c.3668C>G (p.Pro1223Arg) c.3626C>G (p.Pro1209Arg) c.3590C>G (p.Pro1197Arg) | |
| 1 | g.10343267C>T | CA338342131 | KIF1B | c.3530C>T (p.Pro1177Leu) c.3593C>T (p.Pro1198Leu) c.3668C>T (p.Pro1223Leu) c.3626C>T (p.Pro1209Leu) c.3590C>T (p.Pro1197Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.10343268C>A | CA415884340 | KIF1B | c.3531C>A (p.Pro1177=) c.3594C>A (p.Pro1198=) c.3669C>A (p.Pro1223=) c.3627C>A (p.Pro1209=) c.3591C>A (p.Pro1197=) | gnomAD v4 |
| 1 | g.10343268C= | CA1153145218 | KIF1B | c.3531C= (p.Pro1177=) c.3594C= (p.Pro1198=) c.3669C= (p.Pro1223=) c.3627C= (p.Pro1209=) c.3591C= (p.Pro1197=) | |
| 1 | g.10343268C>G | CA415884341 | KIF1B | c.3531C>G (p.Pro1177=) c.3594C>G (p.Pro1198=) c.3669C>G (p.Pro1223=) c.3627C>G (p.Pro1209=) c.3591C>G (p.Pro1197=) | |
| 1 | g.10343268C>T | CA581838 | KIF1B | c.3531C>T (p.Pro1177=) c.3594C>T (p.Pro1198=) c.3669C>T (p.Pro1223=) c.3627C>T (p.Pro1209=) c.3591C>T (p.Pro1197=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.10343269A>C | CA338342132 | KIF1B | c.3532A>C (p.Met1178Leu) c.3595A>C (p.Met1199Leu) c.3670A>C (p.Met1224Leu) c.3628A>C (p.Met1210Leu) c.3592A>C (p.Met1198Leu) | |
| 1 | g.10343269A>G | CA338342133 | KIF1B | c.3532A>G (p.Met1178Val) c.3595A>G (p.Met1199Val) c.3670A>G (p.Met1224Val) c.3628A>G (p.Met1210Val) c.3592A>G (p.Met1198Val) | gnomAD v4 |
| 1 | g.10343269A>T | CA338342134 | KIF1B | c.3532A>T (p.Met1178Leu) c.3595A>T (p.Met1199Leu) c.3670A>T (p.Met1224Leu) c.3628A>T (p.Met1210Leu) c.3592A>T (p.Met1198Leu) | |
| 1 | g.10343270T>A | CA338342135 | KIF1B | c.3533T>A (p.Met1178Lys) c.3596T>A (p.Met1199Lys) c.3671T>A (p.Met1224Lys) c.3629T>A (p.Met1210Lys) c.3593T>A (p.Met1198Lys) | |
| 1 | g.10343270T>C | CA338342136 | KIF1B | c.3533T>C (p.Met1178Thr) c.3596T>C (p.Met1199Thr) c.3671T>C (p.Met1224Thr) c.3629T>C (p.Met1210Thr) c.3593T>C (p.Met1198Thr) | |
| 1 | g.10343270T>G | CA338342137 | KIF1B | c.3533T>G (p.Met1178Arg) c.3596T>G (p.Met1199Arg) c.3671T>G (p.Met1224Arg) c.3629T>G (p.Met1210Arg) c.3593T>G (p.Met1198Arg) | |
| 1 | g.10343271G>A | CA338342140 | KIF1B | c.3534G>A (p.Met1178Ile) c.3597G>A (p.Met1199Ile) c.3672G>A (p.Met1224Ile) c.3630G>A (p.Met1210Ile) c.3594G>A (p.Met1198Ile) | |
| 1 | g.10343271G>C | CA338342139 | KIF1B | c.3534G>C (p.Met1178Ile) c.3597G>C (p.Met1199Ile) c.3672G>C (p.Met1224Ile) c.3630G>C (p.Met1210Ile) c.3594G>C (p.Met1198Ile) | ClinVar |
| 1 | g.10343271G>T | CA338342138 | KIF1B | c.3534G>T (p.Met1178Ile) c.3597G>T (p.Met1199Ile) c.3672G>T (p.Met1224Ile) c.3630G>T (p.Met1210Ile) c.3594G>T (p.Met1198Ile) | |
| 1 | g.10343272C>A | CA338342141 | KIF1B | c.3535C>A (p.Pro1179Thr) c.3598C>A (p.Pro1200Thr) c.3673C>A (p.Pro1225Thr) c.3631C>A (p.Pro1211Thr) c.3595C>A (p.Pro1199Thr) | |
| 1 | g.10343272C= | CA1153145219 | KIF1B | c.3535C= (p.Pro1179=) c.3598C= (p.Pro1200=) c.3673C= (p.Pro1225=) c.3631C= (p.Pro1211=) c.3595C= (p.Pro1199=) | |
| 1 | g.10343272C>G | CA338342142 | KIF1B | c.3535C>G (p.Pro1179Ala) c.3598C>G (p.Pro1200Ala) c.3673C>G (p.Pro1225Ala) c.3631C>G (p.Pro1211Ala) c.3595C>G (p.Pro1199Ala) | |
| 1 | g.10343272C>T | CA581839 | KIF1B | c.3535C>T (p.Pro1179Ser) c.3598C>T (p.Pro1200Ser) c.3673C>T (p.Pro1225Ser) c.3631C>T (p.Pro1211Ser) c.3595C>T (p.Pro1199Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.10343273C>A | CA338342143 | KIF1B | c.3536C>A (p.Pro1179Gln) c.3599C>A (p.Pro1200Gln) c.3674C>A (p.Pro1225Gln) c.3632C>A (p.Pro1211Gln) c.3596C>A (p.Pro1199Gln) | |
| 1 | g.10343273C= | CA1153145220 | KIF1B | c.3536C= (p.Pro1179=) c.3599C= (p.Pro1200=) c.3674C= (p.Pro1225=) c.3632C= (p.Pro1211=) c.3596C= (p.Pro1199=) | |
| 1 | g.10343273C>G | CA338342144 | KIF1B | c.3536C>G (p.Pro1179Arg) c.3599C>G (p.Pro1200Arg) c.3674C>G (p.Pro1225Arg) c.3632C>G (p.Pro1211Arg) c.3596C>G (p.Pro1199Arg) | |
| 1 | g.10343273C>T | CA338342145 | KIF1B | c.3536C>T (p.Pro1179Leu) c.3599C>T (p.Pro1200Leu) c.3674C>T (p.Pro1225Leu) c.3632C>T (p.Pro1211Leu) c.3596C>T (p.Pro1199Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.10343274A>C | CA415884342 | KIF1B | c.3537A>C (p.Pro1179=) c.3600A>C (p.Pro1200=) c.3675A>C (p.Pro1225=) c.3633A>C (p.Pro1211=) c.3597A>C (p.Pro1199=) | gnomAD v4 |
| 1 | g.10343274A>G | CA415884343 | KIF1B | c.3537A>G (p.Pro1179=) c.3600A>G (p.Pro1200=) c.3675A>G (p.Pro1225=) c.3633A>G (p.Pro1211=) c.3597A>G (p.Pro1199=) | ClinVar gnomAD v4 |
| 1 | g.10343274A>T | CA415884344 | KIF1B | c.3537A>T (p.Pro1179=) c.3600A>T (p.Pro1200=) c.3675A>T (p.Pro1225=) c.3633A>T (p.Pro1211=) c.3597A>T (p.Pro1199=) | gnomAD v4 |
| 1 | g.10343275C>A | CA338342146 | KIF1B | c.3538C>A (p.Leu1180Met) c.3601C>A (p.Leu1201Met) c.3676C>A (p.Leu1226Met) c.3634C>A (p.Leu1212Met) c.3598C>A (p.Leu1200Met) | |
| 1 | g.10343275C>G | CA338342147 | KIF1B | c.3538C>G (p.Leu1180Val) c.3601C>G (p.Leu1201Val) c.3676C>G (p.Leu1226Val) c.3634C>G (p.Leu1212Val) c.3598C>G (p.Leu1200Val) | |
| 1 | g.10343275C>T | CA415884345 | KIF1B | c.3538C>T (p.Leu1180=) c.3601C>T (p.Leu1201=) c.3676C>T (p.Leu1226=) c.3634C>T (p.Leu1212=) c.3598C>T (p.Leu1200=) | ClinVar |
| 1 | g.10343276T>A | CA338342148 | KIF1B | c.3539T>A (p.Leu1180Gln) c.3602T>A (p.Leu1201Gln) c.3677T>A (p.Leu1226Gln) c.3635T>A (p.Leu1212Gln) c.3599T>A (p.Leu1200Gln) | |
| 1 | g.10343276T>C | CA338342149 | KIF1B | c.3539T>C (p.Leu1180Pro) c.3602T>C (p.Leu1201Pro) c.3677T>C (p.Leu1226Pro) c.3635T>C (p.Leu1212Pro) c.3599T>C (p.Leu1200Pro) | ClinVar |
| 1 | g.10343276T>G | CA338342150 | KIF1B | c.3539T>G (p.Leu1180Arg) c.3602T>G (p.Leu1201Arg) c.3677T>G (p.Leu1226Arg) c.3635T>G (p.Leu1212Arg) c.3599T>G (p.Leu1200Arg) | |
| 1 | g.10343277G>A | CA415884347 | KIF1B | c.3540G>A (p.Leu1180=) c.3603G>A (p.Leu1201=) c.3678G>A (p.Leu1226=) c.3636G>A (p.Leu1212=) c.3600G>A (p.Leu1200=) | |
| 1 | g.10343277G>C | CA415884348 | KIF1B | c.3540G>C (p.Leu1180=) c.3603G>C (p.Leu1201=) c.3678G>C (p.Leu1226=) c.3636G>C (p.Leu1212=) c.3600G>C (p.Leu1200=) | ClinVar |
| 1 | g.10343277G>T | CA415884346 | KIF1B | c.3540G>T (p.Leu1180=) c.3603G>T (p.Leu1201=) c.3678G>T (p.Leu1226=) c.3636G>T (p.Leu1212=) c.3600G>T (p.Leu1200=) | |
| 1 | g.10343278T>A | CA338342152 | KIF1B | c.3541T>A (p.Ser1181Thr) c.3604T>A (p.Ser1202Thr) c.3679T>A (p.Ser1227Thr) c.3637T>A (p.Ser1213Thr) c.3601T>A (p.Ser1201Thr) | |
| 1 | g.10343278T>C | CA338342153 | KIF1B | c.3541T>C (p.Ser1181Pro) c.3604T>C (p.Ser1202Pro) c.3679T>C (p.Ser1227Pro) c.3637T>C (p.Ser1213Pro) c.3601T>C (p.Ser1201Pro) | |
| 1 | g.10343278T>G | CA338342151 | KIF1B | c.3541T>G (p.Ser1181Ala) c.3604T>G (p.Ser1202Ala) c.3679T>G (p.Ser1227Ala) c.3637T>G (p.Ser1213Ala) c.3601T>G (p.Ser1201Ala) | |
| 1 | g.10343279C>A | CA338342154 | KIF1B | c.3542C>A (p.Ser1181Tyr) c.3605C>A (p.Ser1202Tyr) c.3680C>A (p.Ser1227Tyr) c.3638C>A (p.Ser1213Tyr) c.3602C>A (p.Ser1201Tyr) | COSMIC |
| 1 | g.10343279C>G | CA338342155 | KIF1B | c.3542C>G (p.Ser1181Cys) c.3605C>G (p.Ser1202Cys) c.3680C>G (p.Ser1227Cys) c.3638C>G (p.Ser1213Cys) c.3602C>G (p.Ser1201Cys) | |
| 1 | g.10343279C>T | CA338342156 | KIF1B | c.3542C>T (p.Ser1181Phe) c.3605C>T (p.Ser1202Phe) c.3680C>T (p.Ser1227Phe) c.3638C>T (p.Ser1213Phe) c.3602C>T (p.Ser1201Phe) | |
| 1 | g.10343280C>A | CA415884349 | KIF1B | c.3543C>A (p.Ser1181=) c.3606C>A (p.Ser1202=) c.3681C>A (p.Ser1227=) c.3639C>A (p.Ser1213=) c.3603C>A (p.Ser1201=) | |
| 1 | g.10343280C= | CA1153145221 | KIF1B | c.3543C= (p.Ser1181=) c.3606C= (p.Ser1202=) c.3681C= (p.Ser1227=) c.3639C= (p.Ser1213=) c.3603C= (p.Ser1201=) | |
| 1 | g.10343280C>G | CA17844132 | KIF1B | c.3543C>G (p.Ser1181=) c.3606C>G (p.Ser1202=) c.3681C>G (p.Ser1227=) c.3639C>G (p.Ser1213=) c.3603C>G (p.Ser1201=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.10343280C>T | CA415884350 | KIF1B | c.3543C>T (p.Ser1181=) c.3606C>T (p.Ser1202=) c.3681C>T (p.Ser1227=) c.3639C>T (p.Ser1213=) c.3603C>T (p.Ser1201=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.10343281A>C | CA338342157 | KIF1B | c.3544A>C (p.Lys1182Gln) c.3607A>C (p.Lys1203Gln) c.3682A>C (p.Lys1228Gln) c.3640A>C (p.Lys1214Gln) c.3604A>C (p.Lys1202Gln) | |
| 1 | g.10343281A>G | CA338342158 | KIF1B | c.3544A>G (p.Lys1182Glu) c.3607A>G (p.Lys1203Glu) c.3682A>G (p.Lys1228Glu) c.3640A>G (p.Lys1214Glu) c.3604A>G (p.Lys1202Glu) | gnomAD v4 |
| 1 | g.10343281A>T | CA338342159 | KIF1B | c.3544A>T (p.Lys1182Ter) c.3607A>T (p.Lys1203Ter) c.3682A>T (p.Lys1228Ter) c.3640A>T (p.Lys1214Ter) c.3604A>T (p.Lys1202Ter) | |
| 1 | g.10343282A>C | CA338342162 | KIF1B | c.3545A>C (p.Lys1182Thr) c.3608A>C (p.Lys1203Thr) c.3683A>C (p.Lys1228Thr) c.3641A>C (p.Lys1214Thr) c.3605A>C (p.Lys1202Thr) | |
| 1 | g.10343282A>G | CA338342160 | KIF1B | c.3545A>G (p.Lys1182Arg) c.3608A>G (p.Lys1203Arg) c.3683A>G (p.Lys1228Arg) c.3641A>G (p.Lys1214Arg) c.3605A>G (p.Lys1202Arg) | gnomAD v4 |
| 1 | g.10343282A>T | CA338342161 | KIF1B | c.3545A>T (p.Lys1182Met) c.3608A>T (p.Lys1203Met) c.3683A>T (p.Lys1228Met) c.3641A>T (p.Lys1214Met) c.3605A>T (p.Lys1202Met) | |
| 1 | g.10343283G>A | CA415884351 | KIF1B | c.3546G>A (p.Lys1182=) c.3609G>A (p.Lys1203=) c.3684G>A (p.Lys1228=) c.3642G>A (p.Lys1214=) c.3606G>A (p.Lys1202=) | ClinVar dbSNP |
| 1 | g.10343283G>C | CA338342163 | KIF1B | c.3546G>C (p.Lys1182Asn) c.3609G>C (p.Lys1203Asn) c.3684G>C (p.Lys1228Asn) c.3642G>C (p.Lys1214Asn) c.3606G>C (p.Lys1202Asn) | ClinVar gnomAD v4 |
| 1 | g.10343283G>T | CA338342164 | KIF1B | c.3546G>T (p.Lys1182Asn) c.3609G>T (p.Lys1203Asn) c.3684G>T (p.Lys1228Asn) c.3642G>T (p.Lys1214Asn) c.3606G>T (p.Lys1202Asn) | |
| 1 | g.10343284C>A | CA338342165 | KIF1B | c.3547C>A (p.Pro1183Thr) c.3610C>A (p.Pro1204Thr) c.3685C>A (p.Pro1229Thr) c.3643C>A (p.Pro1215Thr) c.3607C>A (p.Pro1203Thr) | |
| 1 | g.10343284C>G | CA338342166 | KIF1B | c.3547C>G (p.Pro1183Ala) c.3610C>G (p.Pro1204Ala) c.3685C>G (p.Pro1229Ala) c.3643C>G (p.Pro1215Ala) c.3607C>G (p.Pro1203Ala) | |
| 1 | g.10343284C>T | CA338342167 | KIF1B | c.3547C>T (p.Pro1183Ser) c.3610C>T (p.Pro1204Ser) c.3685C>T (p.Pro1229Ser) c.3643C>T (p.Pro1215Ser) c.3607C>T (p.Pro1203Ser) | ClinVar |
| 1 | g.10343285C>A | CA338342168 | KIF1B | c.3548C>A (p.Pro1183Gln) c.3611C>A (p.Pro1204Gln) c.3686C>A (p.Pro1229Gln) c.3644C>A (p.Pro1215Gln) c.3608C>A (p.Pro1203Gln) | |
| 1 | g.10343285C>G | CA338342170 | KIF1B | c.3548C>G (p.Pro1183Arg) c.3611C>G (p.Pro1204Arg) c.3686C>G (p.Pro1229Arg) c.3644C>G (p.Pro1215Arg) c.3608C>G (p.Pro1203Arg) | |
| 1 | g.10343285C>T | CA338342169 | KIF1B | c.3548C>T (p.Pro1183Leu) c.3611C>T (p.Pro1204Leu) c.3686C>T (p.Pro1229Leu) c.3644C>T (p.Pro1215Leu) c.3608C>T (p.Pro1203Leu) | |
| 1 | g.10343286A>C | CA415884352 | KIF1B | c.3549A>C (p.Pro1183=) c.3612A>C (p.Pro1204=) c.3687A>C (p.Pro1229=) c.3645A>C (p.Pro1215=) c.3609A>C (p.Pro1203=) | |
| 1 | g.10343286A>G | CA415884353 | KIF1B | c.3549A>G (p.Pro1183=) c.3612A>G (p.Pro1204=) c.3687A>G (p.Pro1229=) c.3645A>G (p.Pro1215=) c.3609A>G (p.Pro1203=) | |
| 1 | g.10343286A>T | CA415884354 | KIF1B | c.3549A>T (p.Pro1183=) c.3612A>T (p.Pro1204=) c.3687A>T (p.Pro1229=) c.3645A>T (p.Pro1215=) c.3609A>T (p.Pro1203=) | |
| 1 | g.10343287G>A | CA338342171 | KIF1B | c.3550G>A (p.Asp1184Asn) c.3613G>A (p.Val1205Ile) c.3688G>A (p.Val1230Ile) c.3550G>A (p.Val1184Ile) c.3646G>A (p.Val1216Ile) c.3610G>A (p.Val1204Ile) | |
| 1 | g.10343287G>C | CA338342172 | KIF1B | c.3550G>C (p.Asp1184His) c.3613G>C (p.Val1205Leu) c.3688G>C (p.Val1230Leu) c.3550G>C (p.Val1184Leu) c.3646G>C (p.Val1216Leu) c.3610G>C (p.Val1204Leu) | |
| 1 | g.10343287G>T | CA338342173 | KIF1B | c.3550G>T (p.Asp1184Tyr) c.3613G>T (p.Val1205Phe) c.3688G>T (p.Val1230Phe) c.3550G>T (p.Val1184Phe) c.3646G>T (p.Val1216Phe) c.3610G>T (p.Val1204Phe) | |
| 1 | g.10343288G>A | CA338342174 | KIF1B | c.3550+1G>A (n.3550+1G>A) c.3613+1G>A (n.3613+1G>A) c.3688+1G>A (n.3688+1G>A) c.3646+1G>A (n.3646+1G>A) c.3610+1G>A (n.3610+1G>A) | gnomAD v4 |
| 1 | g.10343288G>C | CA338342175 | KIF1B | c.3550+1G>C (n.3550+1G>C) c.3613+1G>C (n.3613+1G>C) c.3688+1G>C (n.3688+1G>C) c.3646+1G>C (n.3646+1G>C) c.3610+1G>C (n.3610+1G>C) | |
| 1 | g.10343288G>T | CA338342176 | KIF1B | c.3550+1G>T (n.3550+1G>T) c.3613+1G>T (n.3613+1G>T) c.3688+1G>T (n.3688+1G>T) c.3646+1G>T (n.3646+1G>T) c.3610+1G>T (n.3610+1G>T) | |
| 1 | g.10343289T>A | CA338342177 | KIF1B | c.3550+2T>A (n.3550+2T>A) c.3613+2T>A (n.3613+2T>A) c.3688+2T>A (n.3688+2T>A) c.3646+2T>A (n.3646+2T>A) c.3610+2T>A (n.3610+2T>A) | |
| 1 | g.10343289T>C | CA338342178 | KIF1B | c.3550+2T>C (n.3550+2T>C) c.3613+2T>C (n.3613+2T>C) c.3688+2T>C (n.3688+2T>C) c.3646+2T>C (n.3646+2T>C) c.3610+2T>C (n.3610+2T>C) | |
| 1 | g.10343289T>G | CA338342179 | KIF1B | c.3550+2T>G (n.3550+2T>G) c.3613+2T>G (n.3613+2T>G) c.3688+2T>G (n.3688+2T>G) c.3646+2T>G (n.3646+2T>G) c.3610+2T>G (n.3610+2T>G) | |
| 1 | g.10343290G>T | CA2643182731 | KIF1B | c.3550+3G>T (n.3550+3G>T) c.3613+3G>T (n.3613+3G>T) c.3688+3G>T (n.3688+3G>T) c.3646+3G>T (n.3646+3G>T) c.3610+3G>T (n.3610+3G>T) | gnomAD v4 |
| 1 | g.10343291_10343292delinsAG | CA1153145222 | KIF1B | c.3550+4_3550+5delinsAG (n.3550+4_3550+5delinsAG) c.3613+4_3613+5delinsAG (n.3613+4_3613+5delinsAG) c.3688+4_3688+5delinsAG (n.3688+4_3688+5delinsAG) c.3646+4_3646+5delinsAG (n.3646+4_3646+5delinsAG) c.3610+4_3610+5delinsAG (n.3610+4_3610+5delinsAG) | |
| 1 | g.10343292del | CA521151172 | KIF1B | c.3550+5del (n.3550+5del) c.3613+5del (n.3613+5del) c.3688+5del (n.3688+5del) c.3646+5del (n.3646+5del) c.3610+5del (n.3610+5del) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10343292G>A | CA581840 | KIF1B | c.3550+5G>A (n.3550+5G>A) c.3613+5G>A (n.3613+5G>A) c.3688+5G>A (n.3688+5G>A) c.3646+5G>A (n.3646+5G>A) c.3610+5G>A (n.3610+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10343292G= | CA1143930016 | KIF1B | c.3550+5G= (n.3550+5G=) c.3613+5G= (n.3613+5G=) c.3688+5G= (n.3688+5G=) c.3646+5G= (n.3646+5G=) c.3610+5G= (n.3610+5G=) | |
| 1 | g.10343292G>T | CA2574206188 | KIF1B | c.3550+5G>T (n.3550+5G>T) c.3613+5G>T (n.3613+5G>T) c.3688+5G>T (n.3688+5G>T) c.3646+5G>T (n.3646+5G>T) c.3610+5G>T (n.3610+5G>T) |