Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | 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=) |