Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
1 | g.10337533A= | CA1153180621 | KIF1B | c.3284A= (p.Asn1095=) c.3347A= (p.Asn1116=) c.3422A= (p.Asn1141=) c.3380A= (p.Asn1127=) c.3344A= (p.Asn1115=) | |
1 | g.10337533A>C | CA338340770 | KIF1B | c.3284A>C (p.Asn1095Thr) c.3347A>C (p.Asn1116Thr) c.3422A>C (p.Asn1141Thr) c.3380A>C (p.Asn1127Thr) c.3344A>C (p.Asn1115Thr) | |
1 | g.10337533A>G | CA338340771 | KIF1B | c.3284A>G (p.Asn1095Ser) c.3347A>G (p.Asn1116Ser) c.3422A>G (p.Asn1141Ser) c.3380A>G (p.Asn1127Ser) c.3344A>G (p.Asn1115Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10337533A>T | CA338340772 | KIF1B | c.3284A>T (p.Asn1095Ile) c.3347A>T (p.Asn1116Ile) c.3422A>T (p.Asn1141Ile) c.3380A>T (p.Asn1127Ile) c.3344A>T (p.Asn1115Ile) | |
1 | g.10337534G>A | CA338340773 | KIF1B | c.3284+1G>A (n.3284+1G>A) c.3347+1G>A (n.3347+1G>A) c.3422+1G>A (n.3422+1G>A) c.3380+1G>A (n.3380+1G>A) c.3344+1G>A (n.3344+1G>A) | |
1 | g.10337534G>C | CA338340774 | KIF1B | c.3284+1G>C (n.3284+1G>C) c.3347+1G>C (n.3347+1G>C) c.3422+1G>C (n.3422+1G>C) c.3380+1G>C (n.3380+1G>C) c.3344+1G>C (n.3344+1G>C) | |
1 | g.10337534G>T | CA338340775 | KIF1B | c.3284+1G>T (n.3284+1G>T) c.3347+1G>T (n.3347+1G>T) c.3422+1G>T (n.3422+1G>T) c.3380+1G>T (n.3380+1G>T) c.3344+1G>T (n.3344+1G>T) | |
1 | g.10337535T>A | CA338340778 | KIF1B | c.3284+2T>A (n.3284+2T>A) c.3347+2T>A (n.3347+2T>A) c.3422+2T>A (n.3422+2T>A) c.3380+2T>A (n.3380+2T>A) c.3344+2T>A (n.3344+2T>A) | |
1 | g.10337535T>C | CA338340777 | KIF1B | c.3284+2T>C (n.3284+2T>C) c.3347+2T>C (n.3347+2T>C) c.3422+2T>C (n.3422+2T>C) c.3380+2T>C (n.3380+2T>C) c.3344+2T>C (n.3344+2T>C) | |
1 | g.10337535T>G | CA338340776 | KIF1B | c.3284+2T>G (n.3284+2T>G) c.3347+2T>G (n.3347+2T>G) c.3422+2T>G (n.3422+2T>G) c.3380+2T>G (n.3380+2T>G) c.3344+2T>G (n.3344+2T>G) | |
1 | g.10337538G>C | CA2574206436 | KIF1B | c.3284+5G>C (n.3284+5G>C) c.3347+5G>C (n.3347+5G>C) c.3422+5G>C (n.3422+5G>C) c.3380+5G>C (n.3380+5G>C) c.3344+5G>C (n.3344+5G>C) | |
1 | g.10337540T>G | CA2643182200 | KIF1B | c.3284+7T>G (n.3284+7T>G) c.3347+7T>G (n.3347+7T>G) c.3422+7T>G (n.3422+7T>G) c.3380+7T>G (n.3380+7T>G) c.3344+7T>G (n.3344+7T>G) | gnomAD v4 |
1 | g.10337541G>A | CA1153180625 | KIF1B | c.3284+8G>A (n.3284+8G>A) c.3347+8G>A (n.3347+8G>A) c.3422+8G>A (n.3422+8G>A) c.3380+8G>A (n.3380+8G>A) c.3344+8G>A (n.3344+8G>A) | dbSNP |
1 | g.10337541G= | CA1153180624 | KIF1B | c.3284+8G= (n.3284+8G=) c.3347+8G= (n.3347+8G=) c.3422+8G= (n.3422+8G=) c.3380+8G= (n.3380+8G=) c.3344+8G= (n.3344+8G=) | |
1 | g.10337542C= | CA1153180626 | KIF1B | c.3284+9C= (n.3284+9C=) c.3347+9C= (n.3347+9C=) c.3422+9C= (n.3422+9C=) c.3380+9C= (n.3380+9C=) c.3344+9C= (n.3344+9C=) | |
1 | g.10337542C>T | CA1153180627 | KIF1B | c.3284+9C>T (n.3284+9C>T) c.3347+9C>T (n.3347+9C>T) c.3422+9C>T (n.3422+9C>T) c.3380+9C>T (n.3380+9C>T) c.3344+9C>T (n.3344+9C>T) | dbSNP |
1 | g.10337543C>T | CA2643182201 | KIF1B | c.3284+10C>T (n.3284+10C>T) c.3347+10C>T (n.3347+10C>T) c.3422+10C>T (n.3422+10C>T) c.3380+10C>T (n.3380+10C>T) c.3344+10C>T (n.3344+10C>T) | gnomAD v4 |
1 | g.10337544C>T | CA2643182202 | KIF1B | c.3284+11C>T (n.3284+11C>T) c.3347+11C>T (n.3347+11C>T) c.3422+11C>T (n.3422+11C>T) c.3380+11C>T (n.3380+11C>T) c.3344+11C>T (n.3344+11C>T) | gnomAD v4 |
1 | g.10337546T>A | CA2643182203 | KIF1B | c.3284+13T>A (n.3284+13T>A) c.3347+13T>A (n.3347+13T>A) c.3422+13T>A (n.3422+13T>A) c.3380+13T>A (n.3380+13T>A) c.3344+13T>A (n.3344+13T>A) | gnomAD v4 |
1 | g.10337546T>C | CA884744998 | KIF1B | c.3284+13T>C (n.3284+13T>C) c.3347+13T>C (n.3347+13T>C) c.3422+13T>C (n.3422+13T>C) c.3380+13T>C (n.3380+13T>C) c.3344+13T>C (n.3344+13T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.10337546T= | CA1153180628 | KIF1B | c.3284+13T= (n.3284+13T=) c.3347+13T= (n.3347+13T=) c.3422+13T= (n.3422+13T=) c.3380+13T= (n.3380+13T=) c.3344+13T= (n.3344+13T=) | |
1 | g.10337549G= | CA1153180630 | KIF1B | c.3284+16G= (n.3284+16G=) c.3347+16G= (n.3347+16G=) c.3422+16G= (n.3422+16G=) c.3380+16G= (n.3380+16G=) c.3344+16G= (n.3344+16G=) | |
1 | g.10337549G>T | CA521150338 | KIF1B | c.3284+16G>T (n.3284+16G>T) c.3347+16G>T (n.3347+16G>T) c.3422+16G>T (n.3422+16G>T) c.3380+16G>T (n.3380+16G>T) c.3344+16G>T (n.3344+16G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10337550C= | CA1153180634 | KIF1B | c.3284+17C= (n.3284+17C=) c.3347+17C= (n.3347+17C=) c.3422+17C= (n.3422+17C=) c.3380+17C= (n.3380+17C=) c.3344+17C= (n.3344+17C=) | |
1 | g.10337550C>G | CA581760 | KIF1B | c.3284+17C>G (n.3284+17C>G) c.3347+17C>G (n.3347+17C>G) c.3422+17C>G (n.3422+17C>G) c.3380+17C>G (n.3380+17C>G) c.3344+17C>G (n.3344+17C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10337551T>C | CA1139655944 | KIF1B | c.3284+18T>C (n.3284+18T>C) c.3347+18T>C (n.3347+18T>C) c.3422+18T>C (n.3422+18T>C) c.3380+18T>C (n.3380+18T>C) c.3344+18T>C (n.3344+18T>C) | ClinVar dbSNP gnomAD v4 |
1 | g.10337551T>G | CA2643182204 | KIF1B | c.3284+18T>G (n.3284+18T>G) c.3347+18T>G (n.3347+18T>G) c.3422+18T>G (n.3422+18T>G) c.3380+18T>G (n.3380+18T>G) c.3344+18T>G (n.3344+18T>G) | gnomAD v4 |