| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.10337518T>A | CA338340733 | KIF1B | c.3269T>A (p.Ile1090Asn) c.3332T>A (p.Ile1111Asn) c.3407T>A (p.Ile1136Asn) c.3365T>A (p.Ile1122Asn) c.3329T>A (p.Ile1110Asn) | |
| 1 | g.10337518T>C | CA233110 | KIF1B | c.3269T>C (p.Ile1090Thr) c.3332T>C (p.Ile1111Thr) c.3407T>C (p.Ile1136Thr) c.3365T>C (p.Ile1122Thr) c.3329T>C (p.Ile1110Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10337518T>G | CA338340734 | KIF1B | c.3269T>G (p.Ile1090Ser) c.3332T>G (p.Ile1111Ser) c.3407T>G (p.Ile1136Ser) c.3365T>G (p.Ile1122Ser) c.3329T>G (p.Ile1110Ser) | |
| 1 | g.10337518T= | CA1143971466 | KIF1B | c.3269T= (p.Ile1090=) c.3332T= (p.Ile1111=) c.3407T= (p.Ile1136=) c.3365T= (p.Ile1122=) c.3329T= (p.Ile1110=) | |
| 1 | g.10337519C>A | CA415883719 | KIF1B | c.3270C>A (p.Ile1090=) c.3333C>A (p.Ile1111=) c.3408C>A (p.Ile1136=) c.3366C>A (p.Ile1122=) c.3330C>A (p.Ile1110=) | |
| 1 | g.10337519C>G | CA338340735 | KIF1B | c.3270C>G (p.Ile1090Met) c.3333C>G (p.Ile1111Met) c.3408C>G (p.Ile1136Met) c.3366C>G (p.Ile1122Met) c.3330C>G (p.Ile1110Met) | |
| 1 | g.10337519C>T | CA415883720 | KIF1B | c.3270C>T (p.Ile1090=) c.3333C>T (p.Ile1111=) c.3408C>T (p.Ile1136=) c.3366C>T (p.Ile1122=) c.3330C>T (p.Ile1110=) | |
| 1 | g.10337520T>A | CA338340736 | KIF1B | c.3271T>A (p.Phe1091Ile) c.3334T>A (p.Phe1112Ile) c.3409T>A (p.Phe1137Ile) c.3367T>A (p.Phe1123Ile) c.3331T>A (p.Phe1111Ile) | |
| 1 | g.10337520T>C | CA338340737 | KIF1B | c.3271T>C (p.Phe1091Leu) c.3334T>C (p.Phe1112Leu) c.3409T>C (p.Phe1137Leu) c.3367T>C (p.Phe1123Leu) c.3331T>C (p.Phe1111Leu) | |
| 1 | g.10337520T>G | CA338340738 | KIF1B | c.3271T>G (p.Phe1091Val) c.3334T>G (p.Phe1112Val) c.3409T>G (p.Phe1137Val) c.3367T>G (p.Phe1123Val) c.3331T>G (p.Phe1111Val) | |
| 1 | g.10337521T>A | CA338340739 | KIF1B | c.3272T>A (p.Phe1091Tyr) c.3335T>A (p.Phe1112Tyr) c.3410T>A (p.Phe1137Tyr) c.3368T>A (p.Phe1123Tyr) c.3332T>A (p.Phe1111Tyr) | |
| 1 | g.10337521T>C | CA338340740 | KIF1B | c.3272T>C (p.Phe1091Ser) c.3335T>C (p.Phe1112Ser) c.3410T>C (p.Phe1137Ser) c.3368T>C (p.Phe1123Ser) c.3332T>C (p.Phe1111Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10337521T>G | CA338340741 | KIF1B | c.3272T>G (p.Phe1091Cys) c.3335T>G (p.Phe1112Cys) c.3410T>G (p.Phe1137Cys) c.3368T>G (p.Phe1123Cys) c.3332T>G (p.Phe1111Cys) | |
| 1 | g.10337521T= | CA1153180607 | KIF1B | c.3272T= (p.Phe1091=) c.3335T= (p.Phe1112=) c.3410T= (p.Phe1137=) c.3368T= (p.Phe1123=) c.3332T= (p.Phe1111=) | |
| 1 | g.10337522C>A | CA338340742 | KIF1B | c.3273C>A (p.Phe1091Leu) c.3336C>A (p.Phe1112Leu) c.3411C>A (p.Phe1137Leu) c.3369C>A (p.Phe1123Leu) c.3333C>A (p.Phe1111Leu) | |
| 1 | g.10337522C>G | CA338340743 | KIF1B | c.3273C>G (p.Phe1091Leu) c.3336C>G (p.Phe1112Leu) c.3411C>G (p.Phe1137Leu) c.3369C>G (p.Phe1123Leu) c.3333C>G (p.Phe1111Leu) | |
| 1 | g.10337522C>T | CA415883721 | KIF1B | c.3273C>T (p.Phe1091=) c.3336C>T (p.Phe1112=) c.3411C>T (p.Phe1137=) c.3369C>T (p.Phe1123=) c.3333C>T (p.Phe1111=) | |
| 1 | g.10337523T>A | CA338340745 | KIF1B | c.3274T>A (p.Cys1092Ser) c.3337T>A (p.Cys1113Ser) c.3412T>A (p.Cys1138Ser) c.3370T>A (p.Cys1124Ser) c.3334T>A (p.Cys1112Ser) | |
| 1 | g.10337523T>C | CA338340746 | KIF1B | c.3274T>C (p.Cys1092Arg) c.3337T>C (p.Cys1113Arg) c.3412T>C (p.Cys1138Arg) c.3370T>C (p.Cys1124Arg) c.3334T>C (p.Cys1112Arg) | |
| 1 | g.10337523T>G | CA338340744 | KIF1B | c.3274T>G (p.Cys1092Gly) c.3337T>G (p.Cys1113Gly) c.3412T>G (p.Cys1138Gly) c.3370T>G (p.Cys1124Gly) c.3334T>G (p.Cys1112Gly) | gnomAD v4 |
| 1 | g.10337524G>A | CA338340747 | KIF1B | c.3275G>A (p.Cys1092Tyr) c.3338G>A (p.Cys1113Tyr) c.3413G>A (p.Cys1138Tyr) c.3371G>A (p.Cys1124Tyr) c.3335G>A (p.Cys1112Tyr) | gnomAD v4 |
| 1 | g.10337524G>C | CA338340748 | KIF1B | c.3275G>C (p.Cys1092Ser) c.3338G>C (p.Cys1113Ser) c.3413G>C (p.Cys1138Ser) c.3371G>C (p.Cys1124Ser) c.3335G>C (p.Cys1112Ser) | |
| 1 | g.10337524G>T | CA338340749 | KIF1B | c.3275G>T (p.Cys1092Phe) c.3338G>T (p.Cys1113Phe) c.3413G>T (p.Cys1138Phe) c.3371G>T (p.Cys1124Phe) c.3335G>T (p.Cys1112Phe) | |
| 1 | g.10337525T>A | CA338340750 | KIF1B | c.3276T>A (p.Cys1092Ter) c.3339T>A (p.Cys1113Ter) c.3414T>A (p.Cys1138Ter) c.3372T>A (p.Cys1124Ter) c.3336T>A (p.Cys1112Ter) | |
| 1 | g.10337525T>C | CA415883722 | KIF1B | c.3276T>C (p.Cys1092=) c.3339T>C (p.Cys1113=) c.3414T>C (p.Cys1138=) c.3372T>C (p.Cys1124=) c.3336T>C (p.Cys1112=) | dbSNP gnomAD v4 |
| 1 | g.10337525T>G | CA338340751 | KIF1B | c.3276T>G (p.Cys1092Trp) c.3339T>G (p.Cys1113Trp) c.3414T>G (p.Cys1138Trp) c.3372T>G (p.Cys1124Trp) c.3336T>G (p.Cys1112Trp) | |
| 1 | g.10337525T= | CA1153180613 | KIF1B | c.3276T= (p.Cys1092=) c.3339T= (p.Cys1113=) c.3414T= (p.Cys1138=) c.3372T= (p.Cys1124=) c.3336T= (p.Cys1112=) | |
| 1 | g.10337526C>A | CA338340754 | KIF1B | c.3277C>A (p.Gln1093Lys) c.3340C>A (p.Gln1114Lys) c.3415C>A (p.Gln1139Lys) c.3373C>A (p.Gln1125Lys) c.3337C>A (p.Gln1113Lys) | |
| 1 | g.10337526C>G | CA338340752 | KIF1B | c.3277C>G (p.Gln1093Glu) c.3340C>G (p.Gln1114Glu) c.3415C>G (p.Gln1139Glu) c.3373C>G (p.Gln1125Glu) c.3337C>G (p.Gln1113Glu) | |
| 1 | g.10337526C>T | CA338340753 | KIF1B | c.3277C>T (p.Gln1093Ter) c.3340C>T (p.Gln1114Ter) c.3415C>T (p.Gln1139Ter) c.3373C>T (p.Gln1125Ter) c.3337C>T (p.Gln1113Ter) | |
| 1 | g.10337527A>C | CA338340755 | KIF1B | c.3278A>C (p.Gln1093Pro) c.3341A>C (p.Gln1114Pro) c.3416A>C (p.Gln1139Pro) c.3374A>C (p.Gln1125Pro) c.3338A>C (p.Gln1113Pro) | |
| 1 | g.10337527A>G | CA338340756 | KIF1B | c.3278A>G (p.Gln1093Arg) c.3341A>G (p.Gln1114Arg) c.3416A>G (p.Gln1139Arg) c.3374A>G (p.Gln1125Arg) c.3338A>G (p.Gln1113Arg) | |
| 1 | g.10337527A>T | CA338340757 | KIF1B | c.3278A>T (p.Gln1093Leu) c.3341A>T (p.Gln1114Leu) c.3416A>T (p.Gln1139Leu) c.3374A>T (p.Gln1125Leu) c.3338A>T (p.Gln1113Leu) | |
| 1 | g.10337528G>A | CA415883723 | KIF1B | c.3279G>A (p.Gln1093=) c.3342G>A (p.Gln1114=) c.3417G>A (p.Gln1139=) c.3375G>A (p.Gln1125=) c.3339G>A (p.Gln1113=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.10337528G>C | CA338340758 | KIF1B | c.3279G>C (p.Gln1093His) c.3342G>C (p.Gln1114His) c.3417G>C (p.Gln1139His) c.3375G>C (p.Gln1125His) c.3339G>C (p.Gln1113His) | |
| 1 | g.10337528G= | CA1153180616 | KIF1B | c.3279G= (p.Gln1093=) c.3342G= (p.Gln1114=) c.3417G= (p.Gln1139=) c.3375G= (p.Gln1125=) c.3339G= (p.Gln1113=) | |
| 1 | g.10337528G>T | CA338340759 | KIF1B | c.3279G>T (p.Gln1093His) c.3342G>T (p.Gln1114His) c.3417G>T (p.Gln1139His) c.3375G>T (p.Gln1125His) c.3339G>T (p.Gln1113His) | |
| 1 | g.10337529T>A | CA338340760 | KIF1B | c.3280T>A (p.Phe1094Ile) c.3343T>A (p.Phe1115Ile) c.3418T>A (p.Phe1140Ile) c.3376T>A (p.Phe1126Ile) c.3340T>A (p.Phe1114Ile) | |
| 1 | g.10337529T>C | CA338340762 | KIF1B | c.3280T>C (p.Phe1094Leu) c.3343T>C (p.Phe1115Leu) c.3418T>C (p.Phe1140Leu) c.3376T>C (p.Phe1126Leu) c.3340T>C (p.Phe1114Leu) | |
| 1 | g.10337529T>G | CA338340761 | KIF1B | c.3280T>G (p.Phe1094Val) c.3343T>G (p.Phe1115Val) c.3418T>G (p.Phe1140Val) c.3376T>G (p.Phe1126Val) c.3340T>G (p.Phe1114Val) | |
| 1 | g.10337530T>A | CA338340763 | KIF1B | c.3281T>A (p.Phe1094Tyr) c.3344T>A (p.Phe1115Tyr) c.3419T>A (p.Phe1140Tyr) c.3377T>A (p.Phe1126Tyr) c.3341T>A (p.Phe1114Tyr) | |
| 1 | g.10337530T>C | CA338340765 | KIF1B | c.3281T>C (p.Phe1094Ser) c.3344T>C (p.Phe1115Ser) c.3419T>C (p.Phe1140Ser) c.3377T>C (p.Phe1126Ser) c.3341T>C (p.Phe1114Ser) | |
| 1 | g.10337530T>G | CA338340764 | KIF1B | c.3281T>G (p.Phe1094Cys) c.3344T>G (p.Phe1115Cys) c.3419T>G (p.Phe1140Cys) c.3377T>G (p.Phe1126Cys) c.3341T>G (p.Phe1114Cys) | |
| 1 | g.10337531C>A | CA338340766 | KIF1B | c.3282C>A (p.Phe1094Leu) c.3345C>A (p.Phe1115Leu) c.3420C>A (p.Phe1140Leu) c.3378C>A (p.Phe1126Leu) c.3342C>A (p.Phe1114Leu) | |
| 1 | g.10337531C= | CA1153180617 | KIF1B | c.3282C= (p.Phe1094=) c.3345C= (p.Phe1115=) c.3420C= (p.Phe1140=) c.3378C= (p.Phe1126=) c.3342C= (p.Phe1114=) | |
| 1 | g.10337531C>G | CA17841721 | KIF1B | c.3282C>G (p.Phe1094Leu) c.3345C>G (p.Phe1115Leu) c.3420C>G (p.Phe1140Leu) c.3378C>G (p.Phe1126Leu) c.3342C>G (p.Phe1114Leu) | dbSNP |
| 1 | g.10337531C>T | CA415883724 | KIF1B | c.3282C>T (p.Phe1094=) c.3345C>T (p.Phe1115=) c.3420C>T (p.Phe1140=) c.3378C>T (p.Phe1126=) c.3342C>T (p.Phe1114=) | |
| 1 | g.10337532A>C | CA338340767 | KIF1B | c.3283A>C (p.Asn1095His) c.3346A>C (p.Asn1116His) c.3421A>C (p.Asn1141His) c.3379A>C (p.Asn1127His) c.3343A>C (p.Asn1115His) | |
| 1 | g.10337532A>G | CA338340768 | KIF1B | c.3283A>G (p.Asn1095Asp) c.3346A>G (p.Asn1116Asp) c.3421A>G (p.Asn1141Asp) c.3379A>G (p.Asn1127Asp) c.3343A>G (p.Asn1115Asp) | |
| 1 | g.10337532A>T | CA338340769 | KIF1B | c.3283A>T (p.Asn1095Tyr) c.3346A>T (p.Asn1116Tyr) c.3421A>T (p.Asn1141Tyr) c.3379A>T (p.Asn1127Tyr) c.3343A>T (p.Asn1115Tyr) |