Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.10326305_10326314delinsGTGACGGGCA | CA1153161547 | KIF1B | c.2732_2741delinsGTGACGGGCA (p.Ser911=) c.2795_2804delinsGTGACGGGCA (p.Ser932=) c.2870_2879delinsGTGACGGGCA (p.Ser957=) c.2828_2837delinsGTGACGGGCA (p.Ser943=) c.2792_2801delinsGTGACGGGCA (p.Ser931=) | |
1 | g.10326310_10326318del | CA645511972 | KIF1B | c.2737_2745del (p.Gly913_Asp915del) c.2800_2808del (p.Gly934_Asp936del) c.2875_2883del (p.Gly959_Asp961del) c.2833_2841del (p.Gly945_Asp947del) c.2797_2805del (p.Gly933_Asp935del) | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.10326309C>A | CA338337433 | KIF1B | c.2736C>A (p.Asp912Glu) c.2799C>A (p.Asp933Glu) c.2874C>A (p.Asp958Glu) c.2832C>A (p.Asp944Glu) c.2796C>A (p.Asp932Glu) | |
1 | g.10326309C= | CA1142388708 | KIF1B | c.2736C= (p.Asp912=) c.2799C= (p.Asp933=) c.2874C= (p.Asp958=) c.2832C= (p.Asp944=) c.2796C= (p.Asp932=) | |
1 | g.10326309C>G | CA338337436 | KIF1B | c.2736C>G (p.Asp912Glu) c.2799C>G (p.Asp933Glu) c.2874C>G (p.Asp958Glu) c.2832C>G (p.Asp944Glu) c.2796C>G (p.Asp932Glu) | |
1 | g.10326309C>T | CA581630 | KIF1B | c.2736C>T (p.Asp912=) c.2799C>T (p.Asp933=) c.2874C>T (p.Asp958=) c.2832C>T (p.Asp944=) c.2796C>T (p.Asp932=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10326310G>A | CA581631 | KIF1B | c.2737G>A (p.Gly913Arg) c.2800G>A (p.Gly934Arg) c.2875G>A (p.Gly959Arg) c.2833G>A (p.Gly945Arg) c.2797G>A (p.Gly933Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.10326310G>C | CA338337438 | KIF1B | c.2737G>C (p.Gly913Arg) c.2800G>C (p.Gly934Arg) c.2875G>C (p.Gly959Arg) c.2833G>C (p.Gly945Arg) c.2797G>C (p.Gly933Arg) | |
1 | g.10326310G= | CA1153161567 | KIF1B | c.2737G= (p.Gly913=) c.2800G= (p.Gly934=) c.2875G= (p.Gly959=) c.2833G= (p.Gly945=) c.2797G= (p.Gly933=) | |
1 | g.10326310G>T | CA338337439 | KIF1B | c.2737G>T (p.Gly913Trp) c.2800G>T (p.Gly934Trp) c.2875G>T (p.Gly959Trp) c.2833G>T (p.Gly945Trp) c.2797G>T (p.Gly933Trp) | |
1 | g.10326311G>A | CA338337441 | KIF1B | c.2738G>A (p.Gly913Glu) c.2801G>A (p.Gly934Glu) c.2876G>A (p.Gly959Glu) c.2834G>A (p.Gly945Glu) c.2798G>A (p.Gly933Glu) | |
1 | g.10326311G>C | CA338337442 | KIF1B | c.2738G>C (p.Gly913Ala) c.2801G>C (p.Gly934Ala) c.2876G>C (p.Gly959Ala) c.2834G>C (p.Gly945Ala) c.2798G>C (p.Gly933Ala) | |
1 | g.10326311G>T | CA338337444 | KIF1B | c.2738G>T (p.Gly913Val) c.2801G>T (p.Gly934Val) c.2876G>T (p.Gly959Val) c.2834G>T (p.Gly945Val) c.2798G>T (p.Gly933Val) | ClinVar |
1 | g.10326312G>A | CA416034359 | KIF1B | c.2739G>A (p.Gly913=) c.2802G>A (p.Gly934=) c.2877G>A (p.Gly959=) c.2835G>A (p.Gly945=) c.2799G>A (p.Gly933=) | ClinVar gnomAD v4 |
1 | g.10326312G>C | CA416034360 | KIF1B | c.2739G>C (p.Gly913=) c.2802G>C (p.Gly934=) c.2877G>C (p.Gly959=) c.2835G>C (p.Gly945=) c.2799G>C (p.Gly933=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10326312G= | CA1153161571 | KIF1B | c.2739G= (p.Gly913=) c.2802G= (p.Gly934=) c.2877G= (p.Gly959=) c.2835G= (p.Gly945=) c.2799G= (p.Gly933=) | |
1 | g.10326312G>T | CA416034362 | KIF1B | c.2739G>T (p.Gly913=) c.2802G>T (p.Gly934=) c.2877G>T (p.Gly959=) c.2835G>T (p.Gly945=) c.2799G>T (p.Gly933=) | ClinVar |
1 | g.10326313C>A | CA338337446 | KIF1B | c.2740C>A (p.His914Asn) c.2803C>A (p.His935Asn) c.2878C>A (p.His960Asn) c.2836C>A (p.His946Asn) c.2800C>A (p.His934Asn) | |
1 | g.10326313C>G | CA338337448 | KIF1B | c.2740C>G (p.His914Asp) c.2803C>G (p.His935Asp) c.2878C>G (p.His960Asp) c.2836C>G (p.His946Asp) c.2800C>G (p.His934Asp) | |
1 | g.10326313C>T | CA338337449 | KIF1B | c.2740C>T (p.His914Tyr) c.2803C>T (p.His935Tyr) c.2878C>T (p.His960Tyr) c.2836C>T (p.His946Tyr) c.2800C>T (p.His934Tyr) | |
1 | g.10326314A= | CA1147831279 | KIF1B | c.2741A= (p.His914=) c.2804A= (p.His935=) c.2879A= (p.His960=) c.2837A= (p.His946=) c.2801A= (p.His934=) | |
1 | g.10326314A>C | CA338337451 | KIF1B | c.2741A>C (p.His914Pro) c.2804A>C (p.His935Pro) c.2879A>C (p.His960Pro) c.2837A>C (p.His946Pro) c.2801A>C (p.His934Pro) | |
1 | g.10326314A>G | CA581632 | KIF1B | c.2741A>G (p.His914Arg) c.2804A>G (p.His935Arg) c.2879A>G (p.His960Arg) c.2837A>G (p.His946Arg) c.2801A>G (p.His934Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10326314A>T | CA338337450 | KIF1B | c.2741A>T (p.His914Leu) c.2804A>T (p.His935Leu) c.2879A>T (p.His960Leu) c.2837A>T (p.His946Leu) c.2801A>T (p.His934Leu) | |
1 | g.10326315T>A | CA338337453 | KIF1B | c.2742T>A (p.His914Gln) c.2805T>A (p.His935Gln) c.2880T>A (p.His960Gln) c.2838T>A (p.His946Gln) c.2802T>A (p.His934Gln) | |
1 | g.10326315T>C | CA416034366 | KIF1B | c.2742T>C (p.His914=) c.2805T>C (p.His935=) c.2880T>C (p.His960=) c.2838T>C (p.His946=) c.2802T>C (p.His934=) | gnomAD v4 |
1 | g.10326315T>G | CA338337454 | KIF1B | c.2742T>G (p.His914Gln) c.2805T>G (p.His935Gln) c.2880T>G (p.His960Gln) c.2838T>G (p.His946Gln) c.2802T>G (p.His934Gln) | |
1 | g.10326316G>A | CA338337456 | KIF1B | c.2743G>A (p.Asp915Asn) c.2806G>A (p.Asp936Asn) c.2881G>A (p.Asp961Asn) c.2839G>A (p.Asp947Asn) c.2803G>A (p.Asp935Asn) | dbSNP |
1 | g.10326316G>C | CA338337457 | KIF1B | c.2743G>C (p.Asp915His) c.2806G>C (p.Asp936His) c.2881G>C (p.Asp961His) c.2839G>C (p.Asp947His) c.2803G>C (p.Asp935His) | |
1 | g.10326316G= | CA1153161589 | KIF1B | c.2743G= (p.Asp915=) c.2806G= (p.Asp936=) c.2881G= (p.Asp961=) c.2839G= (p.Asp947=) c.2803G= (p.Asp935=) | |
1 | g.10326316G>T | CA338337459 | KIF1B | c.2743G>T (p.Asp915Tyr) c.2806G>T (p.Asp936Tyr) c.2881G>T (p.Asp961Tyr) c.2839G>T (p.Asp947Tyr) c.2803G>T (p.Asp935Tyr) | |
1 | g.10326317A>C | CA338337463 | KIF1B | c.2744A>C (p.Asp915Ala) c.2807A>C (p.Asp936Ala) c.2882A>C (p.Asp961Ala) c.2840A>C (p.Asp947Ala) c.2804A>C (p.Asp935Ala) | |
1 | g.10326317A>G | CA338337460 | KIF1B | c.2744A>G (p.Asp915Gly) c.2807A>G (p.Asp936Gly) c.2882A>G (p.Asp961Gly) c.2840A>G (p.Asp947Gly) c.2804A>G (p.Asp935Gly) | |
1 | g.10326317A>T | CA338337462 | KIF1B | c.2744A>T (p.Asp915Val) c.2807A>T (p.Asp936Val) c.2882A>T (p.Asp961Val) c.2840A>T (p.Asp947Val) c.2804A>T (p.Asp935Val) | |
1 | g.10326318C>A | CA338337464 | KIF1B | c.2745C>A (p.Asp915Glu) c.2808C>A (p.Asp936Glu) c.2883C>A (p.Asp961Glu) c.2841C>A (p.Asp947Glu) c.2805C>A (p.Asp935Glu) | |
1 | g.10326318C>G | CA338337465 | KIF1B | c.2745C>G (p.Asp915Glu) c.2808C>G (p.Asp936Glu) c.2883C>G (p.Asp961Glu) c.2841C>G (p.Asp947Glu) c.2805C>G (p.Asp935Glu) | |
1 | g.10326318C>T | CA416034373 | KIF1B | c.2745C>T (p.Asp915=) c.2808C>T (p.Asp936=) c.2883C>T (p.Asp961=) c.2841C>T (p.Asp947=) c.2805C>T (p.Asp935=) | |
1 | g.10326320del | CA2580060444 | KIF1B | c.2747del (p.Pro916ArgfsTer11) c.2810del (p.Pro937ArgfsTer11) c.2885del (p.Pro962ArgfsTer11) c.2843del (p.Pro948ArgfsTer11) c.2807del (p.Pro936ArgfsTer11) | ClinVar |
1 | g.10326319C>A | CA338337466 | KIF1B | c.2746C>A (p.Pro916Thr) c.2809C>A (p.Pro937Thr) c.2884C>A (p.Pro962Thr) c.2842C>A (p.Pro948Thr) c.2806C>A (p.Pro936Thr) | |
1 | g.10326319C>G | CA338337467 | KIF1B | c.2746C>G (p.Pro916Ala) c.2809C>G (p.Pro937Ala) c.2884C>G (p.Pro962Ala) c.2842C>G (p.Pro948Ala) c.2806C>G (p.Pro936Ala) | |
1 | g.10326319C>T | CA338337468 | KIF1B | c.2746C>T (p.Pro916Ser) c.2809C>T (p.Pro937Ser) c.2884C>T (p.Pro962Ser) c.2842C>T (p.Pro948Ser) c.2806C>T (p.Pro936Ser) | |
1 | g.10326320C>A | CA338337471 | KIF1B | c.2747C>A (p.Pro916Gln) c.2810C>A (p.Pro937Gln) c.2885C>A (p.Pro962Gln) c.2843C>A (p.Pro948Gln) c.2807C>A (p.Pro936Gln) | |
1 | g.10326320C= | CA1153161593 | KIF1B | c.2747C= (p.Pro916=) c.2810C= (p.Pro937=) c.2885C= (p.Pro962=) c.2843C= (p.Pro948=) c.2807C= (p.Pro936=) | |
1 | g.10326320C>G | CA338337470 | KIF1B | c.2747C>G (p.Pro916Arg) c.2810C>G (p.Pro937Arg) c.2885C>G (p.Pro962Arg) c.2843C>G (p.Pro948Arg) c.2807C>G (p.Pro936Arg) | COSMIC |
1 | g.10326320C>T | CA581633 | KIF1B | c.2747C>T (p.Pro916Leu) c.2810C>T (p.Pro937Leu) c.2885C>T (p.Pro962Leu) c.2843C>T (p.Pro948Leu) c.2807C>T (p.Pro936Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.10326321G>A | CA581634 | KIF1B | c.2748G>A (p.Pro916=) c.2811G>A (p.Pro937=) c.2886G>A (p.Pro962=) c.2844G>A (p.Pro948=) c.2808G>A (p.Pro936=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.10326321G>C | CA416034375 | KIF1B | c.2748G>C (p.Pro916=) c.2811G>C (p.Pro937=) c.2886G>C (p.Pro962=) c.2844G>C (p.Pro948=) c.2808G>C (p.Pro936=) | dbSNP |
1 | g.10326321G= | CA1153161595 | KIF1B | c.2748G= (p.Pro916=) c.2811G= (p.Pro937=) c.2886G= (p.Pro962=) c.2844G= (p.Pro948=) c.2808G= (p.Pro936=) | |
1 | g.10326321G>T | CA416034378 | KIF1B | c.2748G>T (p.Pro916=) c.2811G>T (p.Pro937=) c.2886G>T (p.Pro962=) c.2844G>T (p.Pro948=) c.2808G>T (p.Pro936=) | ClinVar |
1 | g.10326322T>A | CA338337472 | KIF1B | c.2749T>A (p.Phe917Ile) c.2812T>A (p.Phe938Ile) c.2887T>A (p.Phe963Ile) c.2845T>A (p.Phe949Ile) c.2809T>A (p.Phe937Ile) | |
1 | g.10326322T>C | CA338337473 | KIF1B | c.2749T>C (p.Phe917Leu) c.2812T>C (p.Phe938Leu) c.2887T>C (p.Phe963Leu) c.2845T>C (p.Phe949Leu) c.2809T>C (p.Phe937Leu) | |
1 | g.10326322T>G | CA338337474 | KIF1B | c.2749T>G (p.Phe917Val) c.2812T>G (p.Phe938Val) c.2887T>G (p.Phe963Val) c.2845T>G (p.Phe949Val) c.2809T>G (p.Phe937Val) | |
1 | g.10326323T>A | CA338337475 | KIF1B | c.2750T>A (p.Phe917Tyr) c.2813T>A (p.Phe938Tyr) c.2888T>A (p.Phe963Tyr) c.2846T>A (p.Phe949Tyr) c.2810T>A (p.Phe937Tyr) | |
1 | g.10326323T>C | CA338337476 | KIF1B | c.2750T>C (p.Phe917Ser) c.2813T>C (p.Phe938Ser) c.2888T>C (p.Phe963Ser) c.2846T>C (p.Phe949Ser) c.2810T>C (p.Phe937Ser) | |
1 | g.10326323T>G | CA338337478 | KIF1B | c.2750T>G (p.Phe917Cys) c.2813T>G (p.Phe938Cys) c.2888T>G (p.Phe963Cys) c.2846T>G (p.Phe949Cys) c.2810T>G (p.Phe937Cys) | |
1 | g.10326324T>A | CA338337479 | KIF1B | c.2751T>A (p.Phe917Leu) c.2814T>A (p.Phe938Leu) c.2889T>A (p.Phe963Leu) c.2847T>A (p.Phe949Leu) c.2811T>A (p.Phe937Leu) | |
1 | g.10326324T>C | CA416034379 | KIF1B | c.2751T>C (p.Phe917=) c.2814T>C (p.Phe938=) c.2889T>C (p.Phe963=) c.2847T>C (p.Phe949=) c.2811T>C (p.Phe937=) | gnomAD v4 |
1 | g.10326324T>G | CA338337481 | KIF1B | c.2751T>G (p.Phe917Leu) c.2814T>G (p.Phe938Leu) c.2889T>G (p.Phe963Leu) c.2847T>G (p.Phe949Leu) c.2811T>G (p.Phe937Leu) | |
1 | g.10326325T>A | CA338337483 | KIF1B | c.2752T>A (p.Tyr918Asn) c.2815T>A (p.Tyr939Asn) c.2890T>A (p.Tyr964Asn) c.2848T>A (p.Tyr950Asn) c.2812T>A (p.Tyr938Asn) | |
1 | g.10326325T>C | CA338337484 | KIF1B | c.2752T>C (p.Tyr918His) c.2815T>C (p.Tyr939His) c.2890T>C (p.Tyr964His) c.2848T>C (p.Tyr950His) c.2812T>C (p.Tyr938His) | |
1 | g.10326325T>G | CA338337485 | KIF1B | c.2752T>G (p.Tyr918Asp) c.2815T>G (p.Tyr939Asp) c.2890T>G (p.Tyr964Asp) c.2848T>G (p.Tyr950Asp) c.2812T>G (p.Tyr938Asp) | |
1 | g.10326326A>C | CA338337486 | KIF1B | c.2753A>C (p.Tyr918Ser) c.2816A>C (p.Tyr939Ser) c.2891A>C (p.Tyr964Ser) c.2849A>C (p.Tyr950Ser) c.2813A>C (p.Tyr938Ser) | |
1 | g.10326326A>G | CA338337488 | KIF1B | c.2753A>G (p.Tyr918Cys) c.2816A>G (p.Tyr939Cys) c.2891A>G (p.Tyr964Cys) c.2849A>G (p.Tyr950Cys) c.2813A>G (p.Tyr938Cys) | |
1 | g.10326326A>T | CA338337489 | KIF1B | c.2753A>T (p.Tyr918Phe) c.2816A>T (p.Tyr939Phe) c.2891A>T (p.Tyr964Phe) c.2849A>T (p.Tyr950Phe) c.2813A>T (p.Tyr938Phe) | |
1 | g.10326327C>A | CA338337491 | KIF1B | c.2754C>A (p.Tyr918Ter) c.2817C>A (p.Tyr939Ter) c.2892C>A (p.Tyr964Ter) c.2850C>A (p.Tyr950Ter) c.2814C>A (p.Tyr938Ter) | |
1 | g.10326327C= | CA1153161603 | KIF1B | c.2754C= (p.Tyr918=) c.2817C= (p.Tyr939=) c.2892C= (p.Tyr964=) c.2850C= (p.Tyr950=) c.2814C= (p.Tyr938=) | |
1 | g.10326327C>G | CA338337493 | KIF1B | c.2754C>G (p.Tyr918Ter) c.2817C>G (p.Tyr939Ter) c.2892C>G (p.Tyr964Ter) c.2850C>G (p.Tyr950Ter) c.2814C>G (p.Tyr938Ter) | |
1 | g.10326327C>T | CA17836936 | KIF1B | c.2754C>T (p.Tyr918=) c.2817C>T (p.Tyr939=) c.2892C>T (p.Tyr964=) c.2850C>T (p.Tyr950=) c.2814C>T (p.Tyr938=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.10326328G>A | CA581635 | KIF1B | c.2755G>A (p.Asp919Asn) c.2818G>A (p.Asp940Asn) c.2893G>A (p.Asp965Asn) c.2851G>A (p.Asp951Asn) c.2815G>A (p.Asp939Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10326328G>C | CA338337495 | KIF1B | c.2755G>C (p.Asp919His) c.2818G>C (p.Asp940His) c.2893G>C (p.Asp965His) c.2851G>C (p.Asp951His) c.2815G>C (p.Asp939His) | dbSNP |
1 | g.10326328G= | CA1153161607 | KIF1B | c.2755G= (p.Asp919=) c.2818G= (p.Asp940=) c.2893G= (p.Asp965=) c.2851G= (p.Asp951=) c.2815G= (p.Asp939=) | |
1 | g.10326328G>T | CA338337497 | KIF1B | c.2755G>T (p.Asp919Tyr) c.2818G>T (p.Asp940Tyr) c.2893G>T (p.Asp965Tyr) c.2851G>T (p.Asp951Tyr) c.2815G>T (p.Asp939Tyr) | gnomAD v4 COSMIC |
1 | g.10326329A>C | CA338337498 | KIF1B | c.2756A>C (p.Asp919Ala) c.2819A>C (p.Asp940Ala) c.2894A>C (p.Asp965Ala) c.2852A>C (p.Asp951Ala) c.2816A>C (p.Asp939Ala) | |
1 | g.10326329A>G | CA338337499 | KIF1B | c.2756A>G (p.Asp919Gly) c.2819A>G (p.Asp940Gly) c.2894A>G (p.Asp965Gly) c.2852A>G (p.Asp951Gly) c.2816A>G (p.Asp939Gly) | |
1 | g.10326329A>T | CA338337500 | KIF1B | c.2756A>T (p.Asp919Val) c.2819A>T (p.Asp940Val) c.2894A>T (p.Asp965Val) c.2852A>T (p.Asp951Val) c.2816A>T (p.Asp939Val) | |
1 | g.10326330C>A | CA338337502 | KIF1B | c.2757C>A (p.Asp919Glu) c.2820C>A (p.Asp940Glu) c.2895C>A (p.Asp965Glu) c.2853C>A (p.Asp951Glu) c.2817C>A (p.Asp939Glu) | |
1 | g.10326330C>G | CA338337503 | KIF1B | c.2757C>G (p.Asp919Glu) c.2820C>G (p.Asp940Glu) c.2895C>G (p.Asp965Glu) c.2853C>G (p.Asp951Glu) c.2817C>G (p.Asp939Glu) | |
1 | g.10326330C>T | CA416034387 | KIF1B | c.2757C>T (p.Asp919=) c.2820C>T (p.Asp940=) c.2895C>T (p.Asp965=) c.2853C>T (p.Asp951=) c.2817C>T (p.Asp939=) | ClinVar |
1 | g.10326331C>A | CA416034388 | KIF1B | c.2758C>A (p.Arg920=) c.2821C>A (p.Arg941=) c.2896C>A (p.Arg966=) c.2854C>A (p.Arg952=) c.2818C>A (p.Arg940=) | |
1 | g.10326331C= | CA1153161612 | KIF1B | c.2758C= (p.Arg920=) c.2821C= (p.Arg941=) c.2896C= (p.Arg966=) c.2854C= (p.Arg952=) c.2818C= (p.Arg940=) | |
1 | g.10326331C>G | CA338337505 | KIF1B | c.2758C>G (p.Arg920Gly) c.2821C>G (p.Arg941Gly) c.2896C>G (p.Arg966Gly) c.2854C>G (p.Arg952Gly) c.2818C>G (p.Arg940Gly) | |
1 | g.10326331C>T | CA17836940 | KIF1B | c.2758C>T (p.Arg920Ter) c.2821C>T (p.Arg941Ter) c.2896C>T (p.Arg966Ter) c.2854C>T (p.Arg952Ter) c.2818C>T (p.Arg940Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.10326332G>A | CA581636 | KIF1B | c.2759G>A (p.Arg920Gln) c.2822G>A (p.Arg941Gln) c.2897G>A (p.Arg966Gln) c.2855G>A (p.Arg952Gln) c.2819G>A (p.Arg940Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10326332G>C | CA338337509 | KIF1B | c.2759G>C (p.Arg920Pro) c.2822G>C (p.Arg941Pro) c.2897G>C (p.Arg966Pro) c.2855G>C (p.Arg952Pro) c.2819G>C (p.Arg940Pro) | |
1 | g.10326332G= | CA1153161618 | KIF1B | c.2759G= (p.Arg920=) c.2822G= (p.Arg941=) c.2897G= (p.Arg966=) c.2855G= (p.Arg952=) c.2819G= (p.Arg940=) | |
1 | g.10326332G>T | CA338337511 | KIF1B | c.2759G>T (p.Arg920Leu) c.2822G>T (p.Arg941Leu) c.2897G>T (p.Arg966Leu) c.2855G>T (p.Arg952Leu) c.2819G>T (p.Arg940Leu) | ClinVar gnomAD v4 |
1 | g.10326333A= | CA1153161623 | KIF1B | c.2760A= (p.Arg920=) c.2823A= (p.Arg941=) c.2898A= (p.Arg966=) c.2856A= (p.Arg952=) c.2820A= (p.Arg940=) | |
1 | g.10326333A>C | CA416034394 | KIF1B | c.2760A>C (p.Arg920=) c.2823A>C (p.Arg941=) c.2898A>C (p.Arg966=) c.2856A>C (p.Arg952=) c.2820A>C (p.Arg940=) | |
1 | g.10326333A>G | CA416034395 | KIF1B | c.2760A>G (p.Arg920=) c.2823A>G (p.Arg941=) c.2898A>G (p.Arg966=) c.2856A>G (p.Arg952=) c.2820A>G (p.Arg940=) | |
1 | g.10326333A>T | CA17836944 | KIF1B | c.2760A>T (p.Arg920=) c.2823A>T (p.Arg941=) c.2898A>T (p.Arg966=) c.2856A>T (p.Arg952=) c.2820A>T (p.Arg940=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.10326334T>A | CA338337514 | KIF1B | c.2761T>A (p.Ser921Thr) c.2824T>A (p.Ser942Thr) c.2899T>A (p.Ser967Thr) c.2857T>A (p.Ser953Thr) c.2821T>A (p.Ser941Thr) | ClinVar dbSNP gnomAD v4 |
1 | g.10326334T>C | CA581637 | KIF1B | c.2761T>C (p.Ser921Pro) c.2824T>C (p.Ser942Pro) c.2899T>C (p.Ser967Pro) c.2857T>C (p.Ser953Pro) c.2821T>C (p.Ser941Pro) | dbSNP ExAC |
1 | g.10326334T>G | CA338337513 | KIF1B | c.2761T>G (p.Ser921Ala) c.2824T>G (p.Ser942Ala) c.2899T>G (p.Ser967Ala) c.2857T>G (p.Ser953Ala) c.2821T>G (p.Ser941Ala) | |
1 | g.10326334T= | CA1153161637 | KIF1B | c.2761T= (p.Ser921=) c.2824T= (p.Ser942=) c.2899T= (p.Ser967=) c.2857T= (p.Ser953=) c.2821T= (p.Ser941=) | |
1 | g.10326335C>A | CA338337515 | KIF1B | c.2762C>A (p.Ser921Tyr) c.2825C>A (p.Ser942Tyr) c.2900C>A (p.Ser967Tyr) c.2858C>A (p.Ser953Tyr) c.2822C>A (p.Ser941Tyr) | |
1 | g.10326335C>G | CA338337516 | KIF1B | c.2762C>G (p.Ser921Cys) c.2825C>G (p.Ser942Cys) c.2900C>G (p.Ser967Cys) c.2858C>G (p.Ser953Cys) c.2822C>G (p.Ser941Cys) | |
1 | g.10326335C>T | CA338337518 | KIF1B | c.2762C>T (p.Ser921Phe) c.2825C>T (p.Ser942Phe) c.2900C>T (p.Ser967Phe) c.2858C>T (p.Ser953Phe) c.2822C>T (p.Ser941Phe) | |
1 | g.10326336C>A | CA416034396 | KIF1B | c.2763C>A (p.Ser921=) c.2826C>A (p.Ser942=) c.2901C>A (p.Ser967=) c.2859C>A (p.Ser953=) c.2823C>A (p.Ser941=) | gnomAD v4 |
1 | g.10326336C= | CA1153161644 | KIF1B | c.2763C= (p.Ser921=) c.2826C= (p.Ser942=) c.2901C= (p.Ser967=) c.2859C= (p.Ser953=) c.2823C= (p.Ser941=) | |
1 | g.10326336C>G | CA416034400 | KIF1B | c.2763C>G (p.Ser921=) c.2826C>G (p.Ser942=) c.2901C>G (p.Ser967=) c.2859C>G (p.Ser953=) c.2823C>G (p.Ser941=) | |
1 | g.10326336C>T | CA416034398 | KIF1B | c.2763C>T (p.Ser921=) c.2826C>T (p.Ser942=) c.2901C>T (p.Ser967=) c.2859C>T (p.Ser953=) c.2823C>T (p.Ser941=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.10326337C>A | CA338337519 | KIF1B | c.2764C>A (p.Pro922Thr) c.2827C>A (p.Pro943Thr) c.2902C>A (p.Pro968Thr) c.2860C>A (p.Pro954Thr) c.2824C>A (p.Pro942Thr) | |
1 | g.10326337C>G | CA338337520 | KIF1B | c.2764C>G (p.Pro922Ala) c.2827C>G (p.Pro943Ala) c.2902C>G (p.Pro968Ala) c.2860C>G (p.Pro954Ala) c.2824C>G (p.Pro942Ala) | |
1 | g.10326337C>T | CA338337521 | KIF1B | c.2764C>T (p.Pro922Ser) c.2827C>T (p.Pro943Ser) c.2902C>T (p.Pro968Ser) c.2860C>T (p.Pro954Ser) c.2824C>T (p.Pro942Ser) | |
1 | g.10326338C>A | CA338337524 | KIF1B | c.2765C>A (p.Pro922His) c.2828C>A (p.Pro943His) c.2903C>A (p.Pro968His) c.2861C>A (p.Pro954His) c.2825C>A (p.Pro942His) | |
1 | g.10326338C>G | CA338337523 | KIF1B | c.2765C>G (p.Pro922Arg) c.2828C>G (p.Pro943Arg) c.2903C>G (p.Pro968Arg) c.2861C>G (p.Pro954Arg) c.2825C>G (p.Pro942Arg) | |
1 | g.10326338C>T | CA338337522 | KIF1B | c.2765C>T (p.Pro922Leu) c.2828C>T (p.Pro943Leu) c.2903C>T (p.Pro968Leu) c.2861C>T (p.Pro954Leu) c.2825C>T (p.Pro942Leu) | |
1 | g.10326339T>A | CA416034402 | KIF1B | c.2766T>A (p.Pro922=) c.2829T>A (p.Pro943=) c.2904T>A (p.Pro968=) c.2862T>A (p.Pro954=) c.2826T>A (p.Pro942=) | |
1 | g.10326339T>C | CA416034403 | KIF1B | c.2766T>C (p.Pro922=) c.2829T>C (p.Pro943=) c.2904T>C (p.Pro968=) c.2862T>C (p.Pro954=) c.2826T>C (p.Pro942=) | |
1 | g.10326339T>G | CA416034404 | KIF1B | c.2766T>G (p.Pro922=) c.2829T>G (p.Pro943=) c.2904T>G (p.Pro968=) c.2862T>G (p.Pro954=) c.2826T>G (p.Pro942=) | |
1 | g.10326340T>A | CA338337525 | KIF1B | c.2767T>A (p.Trp923Arg) c.2830T>A (p.Trp944Arg) c.2905T>A (p.Trp969Arg) c.2863T>A (p.Trp955Arg) c.2827T>A (p.Trp943Arg) | |
1 | g.10326340T>C | CA338337526 | KIF1B | c.2767T>C (p.Trp923Arg) c.2830T>C (p.Trp944Arg) c.2905T>C (p.Trp969Arg) c.2863T>C (p.Trp955Arg) c.2827T>C (p.Trp943Arg) | ClinVar dbSNP |
1 | g.10326340T>G | CA338337528 | KIF1B | c.2767T>G (p.Trp923Gly) c.2830T>G (p.Trp944Gly) c.2905T>G (p.Trp969Gly) c.2863T>G (p.Trp955Gly) c.2827T>G (p.Trp943Gly) | |
1 | g.10326340T= | CA1153161650 | KIF1B | c.2767T= (p.Trp923=) c.2830T= (p.Trp944=) c.2905T= (p.Trp969=) c.2863T= (p.Trp955=) c.2827T= (p.Trp943=) | |
1 | g.10326341G>A | CA338337530 | KIF1B | c.2768G>A (p.Trp923Ter) c.2831G>A (p.Trp944Ter) c.2906G>A (p.Trp969Ter) c.2864G>A (p.Trp955Ter) c.2828G>A (p.Trp943Ter) | |
1 | g.10326341G>C | CA338337531 | KIF1B | c.2768G>C (p.Trp923Ser) c.2831G>C (p.Trp944Ser) c.2906G>C (p.Trp969Ser) c.2864G>C (p.Trp955Ser) c.2828G>C (p.Trp943Ser) | |
1 | g.10326341G>T | CA338337533 | KIF1B | c.2768G>T (p.Trp923Leu) c.2831G>T (p.Trp944Leu) c.2906G>T (p.Trp969Leu) c.2864G>T (p.Trp955Leu) c.2828G>T (p.Trp943Leu) | |
1 | g.10326342del | CA2643181632 | KIF1B | c.2769del (p.Trp923CysfsTer4) c.2832del (p.Trp944CysfsTer4) c.2907del (p.Trp969CysfsTer4) c.2865del (p.Trp955CysfsTer4) c.2829del (p.Trp943CysfsTer4) | gnomAD v4 |
1 | g.10326342G>A | CA338337534 | KIF1B | c.2769G>A (p.Trp923Ter) c.2832G>A (p.Trp944Ter) c.2907G>A (p.Trp969Ter) c.2865G>A (p.Trp955Ter) c.2829G>A (p.Trp943Ter) | |
1 | g.10326342G>C | CA338337537 | KIF1B | c.2769G>C (p.Trp923Cys) c.2832G>C (p.Trp944Cys) c.2907G>C (p.Trp969Cys) c.2865G>C (p.Trp955Cys) c.2829G>C (p.Trp943Cys) | |
1 | g.10326342G>T | CA338337535 | KIF1B | c.2769G>T (p.Trp923Cys) c.2832G>T (p.Trp944Cys) c.2907G>T (p.Trp969Cys) c.2865G>T (p.Trp955Cys) c.2829G>T (p.Trp943Cys) | |
1 | g.10326343T>A | CA338337538 | KIF1B | c.2770T>A (p.Phe924Ile) c.2833T>A (p.Phe945Ile) c.2908T>A (p.Phe970Ile) c.2866T>A (p.Phe956Ile) c.2830T>A (p.Phe944Ile) | |
1 | g.10326343T>C | CA338337540 | KIF1B | c.2770T>C (p.Phe924Leu) c.2833T>C (p.Phe945Leu) c.2908T>C (p.Phe970Leu) c.2866T>C (p.Phe956Leu) c.2830T>C (p.Phe944Leu) | |
1 | g.10326343T>G | CA338337542 | KIF1B | c.2770T>G (p.Phe924Val) c.2833T>G (p.Phe945Val) c.2908T>G (p.Phe970Val) c.2866T>G (p.Phe956Val) c.2830T>G (p.Phe944Val) | |
1 | g.10326344T>A | CA338337544 | KIF1B | c.2771T>A (p.Phe924Tyr) c.2834T>A (p.Phe945Tyr) c.2909T>A (p.Phe970Tyr) c.2867T>A (p.Phe956Tyr) c.2831T>A (p.Phe944Tyr) | |
1 | g.10326344T>C | CA338337546 | KIF1B | c.2771T>C (p.Phe924Ser) c.2834T>C (p.Phe945Ser) c.2909T>C (p.Phe970Ser) c.2867T>C (p.Phe956Ser) c.2831T>C (p.Phe944Ser) | |
1 | g.10326344T>G | CA338337547 | KIF1B | c.2771T>G (p.Phe924Cys) c.2834T>G (p.Phe945Cys) c.2909T>G (p.Phe970Cys) c.2867T>G (p.Phe956Cys) c.2831T>G (p.Phe944Cys) | |
1 | g.10326345C>A | CA338337548 | KIF1B | c.2772C>A (p.Phe924Leu) c.2835C>A (p.Phe945Leu) c.2910C>A (p.Phe970Leu) c.2868C>A (p.Phe956Leu) c.2832C>A (p.Phe944Leu) | |
1 | g.10326345C>G | CA338337550 | KIF1B | c.2772C>G (p.Phe924Leu) c.2835C>G (p.Phe945Leu) c.2910C>G (p.Phe970Leu) c.2868C>G (p.Phe956Leu) c.2832C>G (p.Phe944Leu) | |
1 | g.10326345C>T | CA416034407 | KIF1B | c.2772C>T (p.Phe924=) c.2835C>T (p.Phe945=) c.2910C>T (p.Phe970=) c.2868C>T (p.Phe956=) c.2832C>T (p.Phe944=) | |
1 | g.10326346A>C | CA338337551 | KIF1B | c.2773A>C (p.Ile925Leu) c.2836A>C (p.Ile946Leu) c.2911A>C (p.Ile971Leu) c.2869A>C (p.Ile957Leu) c.2833A>C (p.Ile945Leu) | gnomAD v4 |
1 | g.10326346A>G | CA338337552 | KIF1B | c.2773A>G (p.Ile925Val) c.2836A>G (p.Ile946Val) c.2911A>G (p.Ile971Val) c.2869A>G (p.Ile957Val) c.2833A>G (p.Ile945Val) | |
1 | g.10326346A>T | CA338337554 | KIF1B | c.2773A>T (p.Ile925Phe) c.2836A>T (p.Ile946Phe) c.2911A>T (p.Ile971Phe) c.2869A>T (p.Ile957Phe) c.2833A>T (p.Ile945Phe) | |
1 | g.10326347T>A | CA338337555 | KIF1B | c.2774T>A (p.Ile925Asn) c.2837T>A (p.Ile946Asn) c.2912T>A (p.Ile971Asn) c.2870T>A (p.Ile957Asn) c.2834T>A (p.Ile945Asn) | |
1 | g.10326347T>C | CA338337558 | KIF1B | c.2774T>C (p.Ile925Thr) c.2837T>C (p.Ile946Thr) c.2912T>C (p.Ile971Thr) c.2870T>C (p.Ile957Thr) c.2834T>C (p.Ile945Thr) | |
1 | g.10326347T>G | CA338337556 | KIF1B | c.2774T>G (p.Ile925Ser) c.2837T>G (p.Ile946Ser) c.2912T>G (p.Ile971Ser) c.2870T>G (p.Ile957Ser) c.2834T>G (p.Ile945Ser) | |
1 | g.10326348T>A | CA416034408 | KIF1B | c.2775T>A (p.Ile925=) c.2838T>A (p.Ile946=) c.2913T>A (p.Ile971=) c.2871T>A (p.Ile957=) c.2835T>A (p.Ile945=) | ClinVar |
1 | g.10326348T>C | CA416034409 | KIF1B | c.2775T>C (p.Ile925=) c.2838T>C (p.Ile946=) c.2913T>C (p.Ile971=) c.2871T>C (p.Ile957=) c.2835T>C (p.Ile945=) | |
1 | g.10326348T>G | CA338337559 | KIF1B | c.2775T>G (p.Ile925Met) c.2838T>G (p.Ile946Met) c.2913T>G (p.Ile971Met) c.2871T>G (p.Ile957Met) c.2835T>G (p.Ile945Met) | |
1 | g.10326349T>A | CA338337563 | KIF1B | c.2776T>A (p.Leu926Ile) c.2839T>A (p.Leu947Ile) c.2914T>A (p.Leu972Ile) c.2872T>A (p.Leu958Ile) c.2836T>A (p.Leu946Ile) | |
1 | g.10326349T>C | CA416034411 | KIF1B | c.2776T>C (p.Leu926=) c.2839T>C (p.Leu947=) c.2914T>C (p.Leu972=) c.2872T>C (p.Leu958=) c.2836T>C (p.Leu946=) | |
1 | g.10326349T>G | CA338337561 | KIF1B | c.2776T>G (p.Leu926Val) c.2839T>G (p.Leu947Val) c.2914T>G (p.Leu972Val) c.2872T>G (p.Leu958Val) c.2836T>G (p.Leu946Val) | |
1 | g.10326350T>A | CA338337564 | KIF1B | c.2777T>A (p.Leu926Ter) c.2840T>A (p.Leu947Ter) c.2915T>A (p.Leu972Ter) c.2873T>A (p.Leu958Ter) c.2837T>A (p.Leu946Ter) | |
1 | g.10326350T>C | CA338337565 | KIF1B | c.2777T>C (p.Leu926Ser) c.2840T>C (p.Leu947Ser) c.2915T>C (p.Leu972Ser) c.2873T>C (p.Leu958Ser) c.2837T>C (p.Leu946Ser) | |
1 | g.10326350T>G | CA338337567 | KIF1B | c.2777T>G (p.Leu926Ter) c.2840T>G (p.Leu947Ter) c.2915T>G (p.Leu972Ter) c.2873T>G (p.Leu958Ter) c.2837T>G (p.Leu946Ter) | |
1 | g.10326351A>C | CA338337568 | KIF1B | c.2778A>C (p.Leu926Phe) c.2841A>C (p.Leu947Phe) c.2916A>C (p.Leu972Phe) c.2874A>C (p.Leu958Phe) c.2838A>C (p.Leu946Phe) | |
1 | g.10326351A>G | CA416034413 | KIF1B | c.2778A>G (p.Leu926=) c.2841A>G (p.Leu947=) c.2916A>G (p.Leu972=) c.2874A>G (p.Leu958=) c.2838A>G (p.Leu946=) | |
1 | g.10326351A>T | CA338337569 | KIF1B | c.2778A>T (p.Leu926Phe) c.2841A>T (p.Leu947Phe) c.2916A>T (p.Leu972Phe) c.2874A>T (p.Leu958Phe) c.2838A>T (p.Leu946Phe) | |
1 | g.10326352G>A | CA338337571 | KIF1B | c.2779G>A (p.Val927Met) c.2842G>A (p.Val948Met) c.2917G>A (p.Val973Met) c.2875G>A (p.Val959Met) c.2839G>A (p.Val947Met) | |
1 | g.10326352G>C | CA338337573 | KIF1B | c.2779G>C (p.Val927Leu) c.2842G>C (p.Val948Leu) c.2917G>C (p.Val973Leu) c.2875G>C (p.Val959Leu) c.2839G>C (p.Val947Leu) | |
1 | g.10326352G>T | CA338337574 | KIF1B | c.2779G>T (p.Val927Leu) c.2842G>T (p.Val948Leu) c.2917G>T (p.Val973Leu) c.2875G>T (p.Val959Leu) c.2839G>T (p.Val947Leu) | |
1 | g.10326353T>A | CA338337575 | KIF1B | c.2780T>A (p.Val927Glu) c.2843T>A (p.Val948Glu) c.2918T>A (p.Val973Glu) c.2876T>A (p.Val959Glu) c.2840T>A (p.Val947Glu) | |
1 | g.10326353T>C | CA338337576 | KIF1B | c.2780T>C (p.Val927Ala) c.2843T>C (p.Val948Ala) c.2918T>C (p.Val973Ala) c.2876T>C (p.Val959Ala) c.2840T>C (p.Val947Ala) | ClinVar |
1 | g.10326353T>G | CA338337578 | KIF1B | c.2780T>G (p.Val927Gly) c.2843T>G (p.Val948Gly) c.2918T>G (p.Val973Gly) c.2876T>G (p.Val959Gly) c.2840T>G (p.Val947Gly) | ClinVar |
1 | g.10326354G>A | CA416034415 | KIF1B | c.2781G>A (p.Val927=) c.2844G>A (p.Val948=) c.2919G>A (p.Val973=) c.2877G>A (p.Val959=) c.2841G>A (p.Val947=) | |
1 | g.10326354G>C | CA416034416 | KIF1B | c.2781G>C (p.Val927=) c.2844G>C (p.Val948=) c.2919G>C (p.Val973=) c.2877G>C (p.Val959=) c.2841G>C (p.Val947=) | |
1 | g.10326354G>T | CA416034417 | KIF1B | c.2781G>T (p.Val927=) c.2844G>T (p.Val948=) c.2919G>T (p.Val973=) c.2877G>T (p.Val959=) c.2841G>T (p.Val947=) | |
1 | g.10326355G>A | CA338337583 | KIF1B | c.2782G>A (p.Gly928Arg) c.2845G>A (p.Gly949Arg) c.2920G>A (p.Gly974Arg) c.2878G>A (p.Gly960Arg) c.2842G>A (p.Gly948Arg) | |
1 | g.10326355G>C | CA338337579 | KIF1B | c.2782G>C (p.Gly928Arg) c.2845G>C (p.Gly949Arg) c.2920G>C (p.Gly974Arg) c.2878G>C (p.Gly960Arg) c.2842G>C (p.Gly948Arg) | |
1 | g.10326355G>T | CA338337582 | KIF1B | c.2782G>T (p.Gly928Ter) c.2845G>T (p.Gly949Ter) c.2920G>T (p.Gly974Ter) c.2878G>T (p.Gly960Ter) c.2842G>T (p.Gly948Ter) | |
1 | g.10326356G>A | CA338337585 | KIF1B | c.2783G>A (p.Gly928Glu) c.2846G>A (p.Gly949Glu) c.2921G>A (p.Gly974Glu) c.2879G>A (p.Gly960Glu) c.2843G>A (p.Gly948Glu) | |
1 | g.10326356G>C | CA338337587 | KIF1B | c.2783G>C (p.Gly928Ala) c.2846G>C (p.Gly949Ala) c.2921G>C (p.Gly974Ala) c.2879G>C (p.Gly960Ala) c.2843G>C (p.Gly948Ala) | |
1 | g.10326356G>T | CA338337588 | KIF1B | c.2783G>T (p.Gly928Val) c.2846G>T (p.Gly949Val) c.2921G>T (p.Gly974Val) c.2879G>T (p.Gly960Val) c.2843G>T (p.Gly948Val) | |
1 | g.10326357A>C | CA416034421 | KIF1B | c.2784A>C (p.Gly928=) c.2847A>C (p.Gly949=) c.2922A>C (p.Gly974=) c.2880A>C (p.Gly960=) c.2844A>C (p.Gly948=) | |
1 | g.10326357A>G | CA416034423 | KIF1B | c.2784A>G (p.Gly928=) c.2847A>G (p.Gly949=) c.2922A>G (p.Gly974=) c.2880A>G (p.Gly960=) c.2844A>G (p.Gly948=) | COSMIC |
1 | g.10326357A>T | CA416034424 | KIF1B | c.2784A>T (p.Gly928=) c.2847A>T (p.Gly949=) c.2922A>T (p.Gly974=) c.2880A>T (p.Gly960=) c.2844A>T (p.Gly948=) | |
1 | g.10326358del | CA2643181633 | KIF1B | c.2785del (p.Arg929GlyfsTer6) c.2848del (p.Arg950GlyfsTer6) c.2923del (p.Arg975GlyfsTer6) c.2881del (p.Arg961GlyfsTer6) c.2845del (p.Arg949GlyfsTer6) | gnomAD v4 |
1 | g.10326358A= | CA1153161663 | KIF1B | c.2785A= (p.Arg929=) c.2848A= (p.Arg950=) c.2923A= (p.Arg975=) c.2881A= (p.Arg961=) c.2845A= (p.Arg949=) | |
1 | g.10326358A>C | CA416034425 | KIF1B | c.2785A>C (p.Arg929=) c.2848A>C (p.Arg950=) c.2923A>C (p.Arg975=) c.2881A>C (p.Arg961=) c.2845A>C (p.Arg949=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10326358A>G | CA338337590 | KIF1B | c.2785A>G (p.Arg929Gly) c.2848A>G (p.Arg950Gly) c.2923A>G (p.Arg975Gly) c.2881A>G (p.Arg961Gly) c.2845A>G (p.Arg949Gly) | |
1 | g.10326358A>T | CA338337592 | KIF1B | c.2785A>T (p.Arg929Trp) c.2848A>T (p.Arg950Trp) c.2923A>T (p.Arg975Trp) c.2881A>T (p.Arg961Trp) c.2845A>T (p.Arg949Trp) | |
1 | g.10326359G>A | CA338337594 | KIF1B | c.2786G>A (p.Arg929Lys) c.2849G>A (p.Arg950Lys) c.2924G>A (p.Arg975Lys) c.2882G>A (p.Arg961Lys) c.2846G>A (p.Arg949Lys) | |
1 | g.10326359G>C | CA338337595 | KIF1B | c.2786G>C (p.Arg929Thr) c.2849G>C (p.Arg950Thr) c.2924G>C (p.Arg975Thr) c.2882G>C (p.Arg961Thr) c.2846G>C (p.Arg949Thr) | gnomAD v4 |
1 | g.10326359G>T | CA338337596 | KIF1B | c.2786G>T (p.Arg929Met) c.2849G>T (p.Arg950Met) c.2924G>T (p.Arg975Met) c.2882G>T (p.Arg961Met) c.2846G>T (p.Arg949Met) | |
1 | g.10326360G>A | CA338337598 | KIF1B | c.2786+1G>A (n.2786+1G>A) c.2849+1G>A (n.2849+1G>A) c.2924+1G>A (n.2924+1G>A) c.2882+1G>A (n.2882+1G>A) c.2846+1G>A (n.2846+1G>A) | |
1 | g.10326360G>C | CA338337599 | KIF1B | c.2786+1G>C (n.2786+1G>C) c.2849+1G>C (n.2849+1G>C) c.2924+1G>C (n.2924+1G>C) c.2882+1G>C (n.2882+1G>C) c.2846+1G>C (n.2846+1G>C) | |
1 | g.10326360G>T | CA338337600 | KIF1B | c.2786+1G>T (n.2786+1G>T) c.2849+1G>T (n.2849+1G>T) c.2924+1G>T (n.2924+1G>T) c.2882+1G>T (n.2882+1G>T) c.2846+1G>T (n.2846+1G>T) | |
1 | g.10326361T>A | CA338337605 | KIF1B | c.2786+2T>A (n.2786+2T>A) c.2849+2T>A (n.2849+2T>A) c.2924+2T>A (n.2924+2T>A) c.2882+2T>A (n.2882+2T>A) c.2846+2T>A (n.2846+2T>A) | |
1 | g.10326361T>C | CA338337604 | KIF1B | c.2786+2T>C (n.2786+2T>C) c.2849+2T>C (n.2849+2T>C) c.2924+2T>C (n.2924+2T>C) c.2882+2T>C (n.2882+2T>C) c.2846+2T>C (n.2846+2T>C) | |
1 | g.10326361T>G | CA338337602 | KIF1B | c.2786+2T>G (n.2786+2T>G) c.2849+2T>G (n.2849+2T>G) c.2924+2T>G (n.2924+2T>G) c.2882+2T>G (n.2882+2T>G) c.2846+2T>G (n.2846+2T>G) | |
1 | g.10326364G>A | CA521452634 | KIF1B | c.2786+5G>A (n.2786+5G>A) c.2849+5G>A (n.2849+5G>A) c.2924+5G>A (n.2924+5G>A) c.2882+5G>A (n.2882+5G>A) c.2846+5G>A (n.2846+5G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.10326364G>C | CA581638 | KIF1B | c.2786+5G>C (n.2786+5G>C) c.2849+5G>C (n.2849+5G>C) c.2924+5G>C (n.2924+5G>C) c.2882+5G>C (n.2882+5G>C) c.2846+5G>C (n.2846+5G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10326364G= | CA1153161669 | KIF1B | c.2786+5G= (n.2786+5G=) c.2849+5G= (n.2849+5G=) c.2924+5G= (n.2924+5G=) c.2882+5G= (n.2882+5G=) c.2846+5G= (n.2846+5G=) | |
1 | g.10326367A>C | CA2643181635 | KIF1B | c.2786+8A>C (n.2786+8A>C) c.2849+8A>C (n.2849+8A>C) c.2924+8A>C (n.2924+8A>C) c.2882+8A>C (n.2882+8A>C) c.2846+8A>C (n.2846+8A>C) | gnomAD v4 |
1 | g.10326367A>G | CA2643181634 | KIF1B | c.2786+8A>G (n.2786+8A>G) c.2849+8A>G (n.2849+8A>G) c.2924+8A>G (n.2924+8A>G) c.2882+8A>G (n.2882+8A>G) c.2846+8A>G (n.2846+8A>G) | gnomAD v4 |
1 | g.10326369G>A | CA1153161674 | KIF1B | c.2786+10G>A (n.2786+10G>A) c.2849+10G>A (n.2849+10G>A) c.2924+10G>A (n.2924+10G>A) c.2882+10G>A (n.2882+10G>A) c.2846+10G>A (n.2846+10G>A) | dbSNP gnomAD v4 |
1 | g.10326369G= | CA1153161672 | KIF1B | c.2786+10G= (n.2786+10G=) c.2849+10G= (n.2849+10G=) c.2924+10G= (n.2924+10G=) c.2882+10G= (n.2882+10G=) c.2846+10G= (n.2846+10G=) | |
1 | g.10326372A= | CA1153161681 | KIF1B | c.2786+13A= (n.2786+13A=) c.2849+13A= (n.2849+13A=) c.2924+13A= (n.2924+13A=) c.2882+13A= (n.2882+13A=) c.2846+13A= (n.2846+13A=) | |
1 | g.10326372A>G | CA17836950 | KIF1B | c.2786+13A>G (n.2786+13A>G) c.2849+13A>G (n.2849+13A>G) c.2924+13A>G (n.2924+13A>G) c.2882+13A>G (n.2882+13A>G) c.2846+13A>G (n.2846+13A>G) | dbSNP |
1 | g.10326373T>A | CA2574206585 | KIF1B | c.2786+14T>A (n.2786+14T>A) c.2849+14T>A (n.2849+14T>A) c.2924+14T>A (n.2924+14T>A) c.2882+14T>A (n.2882+14T>A) c.2846+14T>A (n.2846+14T>A) | gnomAD v4 |
1 | g.10326373T>C | CA884738149 | KIF1B | c.2786+14T>C (n.2786+14T>C) c.2849+14T>C (n.2849+14T>C) c.2924+14T>C (n.2924+14T>C) c.2882+14T>C (n.2882+14T>C) c.2846+14T>C (n.2846+14T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.10326373T= | CA1153161683 | KIF1B | c.2786+14T= (n.2786+14T=) c.2849+14T= (n.2849+14T=) c.2924+14T= (n.2924+14T=) c.2882+14T= (n.2882+14T=) c.2846+14T= (n.2846+14T=) | |
1 | g.10326374T>A | CA2574206588 | KIF1B | c.2786+15T>A (n.2786+15T>A) c.2849+15T>A (n.2849+15T>A) c.2924+15T>A (n.2924+15T>A) c.2882+15T>A (n.2882+15T>A) c.2846+15T>A (n.2846+15T>A) | |
1 | g.10326374T>C | CA2742436065 | KIF1B | c.2786+15T>C (n.2786+15T>C) c.2849+15T>C (n.2849+15T>C) c.2924+15T>C (n.2924+15T>C) c.2882+15T>C (n.2882+15T>C) c.2846+15T>C (n.2846+15T>C) | |
1 | g.10326375G>A | CA2643181636 | KIF1B | c.2786+16G>A (n.2786+16G>A) c.2849+16G>A (n.2849+16G>A) c.2924+16G>A (n.2924+16G>A) c.2882+16G>A (n.2882+16G>A) c.2846+16G>A (n.2846+16G>A) | gnomAD v4 |
1 | g.10326375G>C | CA1153161689 | KIF1B | c.2786+16G>C (n.2786+16G>C) c.2849+16G>C (n.2849+16G>C) c.2924+16G>C (n.2924+16G>C) c.2882+16G>C (n.2882+16G>C) c.2846+16G>C (n.2846+16G>C) | ClinVar dbSNP gnomAD v4 |
1 | g.10326375G= | CA1153161687 | KIF1B | c.2786+16G= (n.2786+16G=) c.2849+16G= (n.2849+16G=) c.2924+16G= (n.2924+16G=) c.2882+16G= (n.2882+16G=) c.2846+16G= (n.2846+16G=) | |
1 | g.10326376T>C | CA884738153 | KIF1B | c.2786+17T>C (n.2786+17T>C) c.2849+17T>C (n.2849+17T>C) c.2924+17T>C (n.2924+17T>C) c.2882+17T>C (n.2882+17T>C) c.2846+17T>C (n.2846+17T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.10326376T>G | CA17836951 | KIF1B | c.2786+17T>G (n.2786+17T>G) c.2849+17T>G (n.2849+17T>G) c.2924+17T>G (n.2924+17T>G) c.2882+17T>G (n.2882+17T>G) c.2846+17T>G (n.2846+17T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.10326376T= | CA1143813369 | KIF1B | c.2786+17T= (n.2786+17T=) c.2849+17T= (n.2849+17T=) c.2924+17T= (n.2924+17T=) c.2882+17T= (n.2882+17T=) c.2846+17T= (n.2846+17T=) | |
1 | g.10326377G>A | CA581639 | KIF1B | c.2786+18G>A (n.2786+18G>A) c.2849+18G>A (n.2849+18G>A) c.2924+18G>A (n.2924+18G>A) c.2882+18G>A (n.2882+18G>A) c.2846+18G>A (n.2846+18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10326377G= | CA1153161693 | KIF1B | c.2786+18G= (n.2786+18G=) c.2849+18G= (n.2849+18G=) c.2924+18G= (n.2924+18G=) c.2882+18G= (n.2882+18G=) c.2846+18G= (n.2846+18G=) | |
1 | g.10326377G>T | CA1153161694 | KIF1B | c.2786+18G>T (n.2786+18G>T) c.2849+18G>T (n.2849+18G>T) c.2924+18G>T (n.2924+18G>T) c.2882+18G>T (n.2882+18G>T) c.2846+18G>T (n.2846+18G>T) | ClinVar dbSNP |
1 | g.10326378A>C | CA2643181637 | KIF1B | c.2786+19A>C (n.2786+19A>C) c.2849+19A>C (n.2849+19A>C) c.2924+19A>C (n.2924+19A>C) c.2882+19A>C (n.2882+19A>C) c.2846+19A>C (n.2846+19A>C) | gnomAD v4 |
1 | g.10326378A>G | CA2643181638 | KIF1B | c.2786+19A>G (n.2786+19A>G) c.2849+19A>G (n.2849+19A>G) c.2924+19A>G (n.2924+19A>G) c.2882+19A>G (n.2882+19A>G) c.2846+19A>G (n.2846+19A>G) | gnomAD v4 |
1 | g.10326379G>A | CA1153161697 | KIF1B | c.2786+20G>A (n.2786+20G>A) c.2849+20G>A (n.2849+20G>A) c.2924+20G>A (n.2924+20G>A) c.2882+20G>A (n.2882+20G>A) c.2846+20G>A (n.2846+20G>A) | dbSNP |
1 | g.10326379G= | CA1153161695 | KIF1B | c.2786+20G= (n.2786+20G=) c.2849+20G= (n.2849+20G=) c.2924+20G= (n.2924+20G=) c.2882+20G= (n.2882+20G=) c.2846+20G= (n.2846+20G=) | |
1 | g.10326380A>T | CA2643181639 | KIF1B | c.2786+21A>T (n.2786+21A>T) c.2849+21A>T (n.2849+21A>T) c.2924+21A>T (n.2924+21A>T) c.2882+21A>T (n.2882+21A>T) c.2846+21A>T (n.2846+21A>T) | gnomAD v4 |
1 | g.10326382A= | CA1153161699 | KIF1B | c.2786+23A= (n.2786+23A=) c.2849+23A= (n.2849+23A=) c.2924+23A= (n.2924+23A=) c.2882+23A= (n.2882+23A=) c.2846+23A= (n.2846+23A=) | |
1 | g.10326382A>G | CA521452635 | KIF1B | c.2786+23A>G (n.2786+23A>G) c.2849+23A>G (n.2849+23A>G) c.2924+23A>G (n.2924+23A>G) c.2882+23A>G (n.2882+23A>G) c.2846+23A>G (n.2846+23A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10326382A>T | CA2518312556 | KIF1B | c.2786+23A>T (n.2786+23A>T) c.2849+23A>T (n.2849+23A>T) c.2924+23A>T (n.2924+23A>T) c.2882+23A>T (n.2882+23A>T) c.2846+23A>T (n.2846+23A>T) | |
1 | g.10326383_10326387del | CA2643181640 | KIF1B | c.2786+24_2786+28del (n.2786+24_2786+28del) c.2849+24_2849+28del (n.2849+24_2849+28del) c.2924+24_2924+28del (n.2924+24_2924+28del) c.2882+24_2882+28del (n.2882+24_2882+28del) c.2846+24_2846+28del (n.2846+24_2846+28del) | gnomAD v4 |
1 | g.10326383G>T | CA2574206594 | KIF1B | c.2786+24G>T (n.2786+24G>T) c.2849+24G>T (n.2849+24G>T) c.2924+24G>T (n.2924+24G>T) c.2882+24G>T (n.2882+24G>T) c.2846+24G>T (n.2846+24G>T) | |
1 | g.10326384G>A | CA2643181641 | KIF1B | c.2786+25G>A (n.2786+25G>A) c.2849+25G>A (n.2849+25G>A) c.2924+25G>A (n.2924+25G>A) c.2882+25G>A (n.2882+25G>A) c.2846+25G>A (n.2846+25G>A) | gnomAD v4 |
1 | g.10326385C= | CA1144141420 | KIF1B | c.2786+26C= (n.2786+26C=) c.2849+26C= (n.2849+26C=) c.2924+26C= (n.2924+26C=) c.2882+26C= (n.2882+26C=) c.2846+26C= (n.2846+26C=) | |
1 | g.10326385C>T | CA581640 | KIF1B | c.2786+26C>T (n.2786+26C>T) c.2849+26C>T (n.2849+26C>T) c.2924+26C>T (n.2924+26C>T) c.2882+26C>T (n.2882+26C>T) c.2846+26C>T (n.2846+26C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10326386G>A | CA581641 | KIF1B | c.2786+27G>A (n.2786+27G>A) c.2849+27G>A (n.2849+27G>A) c.2924+27G>A (n.2924+27G>A) c.2882+27G>A (n.2882+27G>A) c.2846+27G>A (n.2846+27G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10326386G>C | CA2512913337 | KIF1B | c.2786+27G>C (n.2786+27G>C) c.2849+27G>C (n.2849+27G>C) c.2924+27G>C (n.2924+27G>C) c.2882+27G>C (n.2882+27G>C) c.2846+27G>C (n.2846+27G>C) | |
1 | g.10326386G= | CA1145085001 | KIF1B | c.2786+27G= (n.2786+27G=) c.2849+27G= (n.2849+27G=) c.2924+27G= (n.2924+27G=) c.2882+27G= (n.2882+27G=) c.2846+27G= (n.2846+27G=) | |
1 | g.10326386G>T | CA2643181642 | KIF1B | c.2786+27G>T (n.2786+27G>T) c.2849+27G>T (n.2849+27G>T) c.2924+27G>T (n.2924+27G>T) c.2882+27G>T (n.2882+27G>T) c.2846+27G>T (n.2846+27G>T) | gnomAD v4 |
1 | g.10326387A>T | CA2643181643 | KIF1B | c.2786+28A>T (n.2786+28A>T) c.2849+28A>T (n.2849+28A>T) c.2924+28A>T (n.2924+28A>T) c.2882+28A>T (n.2882+28A>T) c.2846+28A>T (n.2846+28A>T) | gnomAD v4 |
1 | g.10326390del | CA2742436066 | KIF1B | c.2786+31del (n.2786+31del) c.2849+31del (n.2849+31del) c.2924+31del (n.2924+31del) c.2882+31del (n.2882+31del) c.2846+31del (n.2846+31del) | |
1 | g.10326388A>G | CA2643181644 | KIF1B | c.2786+29A>G (n.2786+29A>G) c.2849+29A>G (n.2849+29A>G) c.2924+29A>G (n.2924+29A>G) c.2882+29A>G (n.2882+29A>G) c.2846+29A>G (n.2846+29A>G) | gnomAD v4 |
1 | g.10326389A= | CA1153161708 | KIF1B | c.2786+30A= (n.2786+30A=) c.2849+30A= (n.2849+30A=) c.2924+30A= (n.2924+30A=) c.2882+30A= (n.2882+30A=) c.2846+30A= (n.2846+30A=) | |
1 | g.10326389A>G | CA17836953 | KIF1B | c.2786+30A>G (n.2786+30A>G) c.2849+30A>G (n.2849+30A>G) c.2924+30A>G (n.2924+30A>G) c.2882+30A>G (n.2882+30A>G) c.2846+30A>G (n.2846+30A>G) | dbSNP |
1 | g.10326390A>G | CA2643181645 | KIF1B | c.2786+31A>G (n.2786+31A>G) c.2849+31A>G (n.2849+31A>G) c.2924+31A>G (n.2924+31A>G) c.2882+31A>G (n.2882+31A>G) c.2846+31A>G (n.2846+31A>G) | gnomAD v4 |
1 | g.10326391G>A | CA581642 | KIF1B | c.2786+32G>A (n.2786+32G>A) c.2849+32G>A (n.2849+32G>A) c.2924+32G>A (n.2924+32G>A) c.2882+32G>A (n.2882+32G>A) c.2846+32G>A (n.2846+32G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10326391G>C | CA2574206600 | KIF1B | c.2786+32G>C (n.2786+32G>C) c.2849+32G>C (n.2849+32G>C) c.2924+32G>C (n.2924+32G>C) c.2882+32G>C (n.2882+32G>C) c.2846+32G>C (n.2846+32G>C) | |
1 | g.10326391G= | CA1153161710 | KIF1B | c.2786+32G= (n.2786+32G=) c.2849+32G= (n.2849+32G=) c.2924+32G= (n.2924+32G=) c.2882+32G= (n.2882+32G=) c.2846+32G= (n.2846+32G=) | |
1 | g.10326392G>C | CA2643181646 | KIF1B | c.2786+33G>C (n.2786+33G>C) c.2849+33G>C (n.2849+33G>C) c.2924+33G>C (n.2924+33G>C) c.2882+33G>C (n.2882+33G>C) c.2846+33G>C (n.2846+33G>C) | gnomAD v4 |
1 | g.10326393G>A | CA2574206602 | KIF1B | c.2786+34G>A (n.2786+34G>A) c.2849+34G>A (n.2849+34G>A) c.2924+34G>A (n.2924+34G>A) c.2882+34G>A (n.2882+34G>A) c.2846+34G>A (n.2846+34G>A) | gnomAD v4 |
1 | g.10326394A= | CA1153161713 | KIF1B | c.2786+35A= (n.2786+35A=) c.2849+35A= (n.2849+35A=) c.2924+35A= (n.2924+35A=) c.2882+35A= (n.2882+35A=) c.2846+35A= (n.2846+35A=) | |
1 | g.10326394A>G | CA2643181647 | KIF1B | c.2786+35A>G (n.2786+35A>G) c.2849+35A>G (n.2849+35A>G) c.2924+35A>G (n.2924+35A>G) c.2882+35A>G (n.2882+35A>G) c.2846+35A>G (n.2846+35A>G) | gnomAD v4 |
1 | g.10326394A>T | CA521452636 | KIF1B | c.2786+35A>T (n.2786+35A>T) c.2849+35A>T (n.2849+35A>T) c.2924+35A>T (n.2924+35A>T) c.2882+35A>T (n.2882+35A>T) c.2846+35A>T (n.2846+35A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10326395C>T | CA2643181648 | KIF1B | c.2786+36C>T (n.2786+36C>T) c.2849+36C>T (n.2849+36C>T) c.2924+36C>T (n.2924+36C>T) c.2882+36C>T (n.2882+36C>T) c.2846+36C>T (n.2846+36C>T) | gnomAD v4 |
1 | g.10326396C= | CA1153161717 | KIF1B | c.2786+37C= (n.2786+37C=) c.2849+37C= (n.2849+37C=) c.2924+37C= (n.2924+37C=) c.2882+37C= (n.2882+37C=) c.2846+37C= (n.2846+37C=) | |
1 | g.10326396C>T | CA1153161719 | KIF1B | c.2786+37C>T (n.2786+37C>T) c.2849+37C>T (n.2849+37C>T) c.2924+37C>T (n.2924+37C>T) c.2882+37C>T (n.2882+37C>T) c.2846+37C>T (n.2846+37C>T) | dbSNP gnomAD v4 |
1 | g.10326398G>C | CA2643181649 | KIF1B | c.2786+39G>C (n.2786+39G>C) c.2849+39G>C (n.2849+39G>C) c.2924+39G>C (n.2924+39G>C) c.2882+39G>C (n.2882+39G>C) c.2846+39G>C (n.2846+39G>C) | dbSNP gnomAD v4 |
1 | g.10326399C>G | CA2574206605 | KIF1B | c.2786+40C>G (n.2786+40C>G) c.2849+40C>G (n.2849+40C>G) c.2924+40C>G (n.2924+40C>G) c.2882+40C>G (n.2882+40C>G) c.2846+40C>G (n.2846+40C>G) | |
1 | g.10326399C>T | CA2643181650 | KIF1B | c.2786+40C>T (n.2786+40C>T) c.2849+40C>T (n.2849+40C>T) c.2924+40C>T (n.2924+40C>T) c.2882+40C>T (n.2882+40C>T) c.2846+40C>T (n.2846+40C>T) | gnomAD v4 |
1 | g.10326400T>C | CA2574206606 | KIF1B | c.2786+41T>C (n.2786+41T>C) c.2849+41T>C (n.2849+41T>C) c.2924+41T>C (n.2924+41T>C) c.2882+41T>C (n.2882+41T>C) c.2846+41T>C (n.2846+41T>C) | gnomAD v4 |
1 | g.10326401del | CA2643181651 | KIF1B | c.2786+42del (n.2786+42del) c.2849+42del (n.2849+42del) c.2924+42del (n.2924+42del) c.2882+42del (n.2882+42del) c.2846+42del (n.2846+42del) | gnomAD v4 |
1 | g.10326401C>A | CA998503452 | KIF1B | c.2786+42C>A (n.2786+42C>A) c.2849+42C>A (n.2849+42C>A) c.2924+42C>A (n.2924+42C>A) c.2882+42C>A (n.2882+42C>A) c.2846+42C>A (n.2846+42C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.10326401C= | CA1153161721 | KIF1B | c.2786+42C= (n.2786+42C=) c.2849+42C= (n.2849+42C=) c.2924+42C= (n.2924+42C=) c.2882+42C= (n.2882+42C=) c.2846+42C= (n.2846+42C=) | |
1 | g.10326401C>T | CA2742436067 | KIF1B | c.2786+42C>T (n.2786+42C>T) c.2849+42C>T (n.2849+42C>T) c.2924+42C>T (n.2924+42C>T) c.2882+42C>T (n.2882+42C>T) c.2846+42C>T (n.2846+42C>T) | |
1 | g.10326402T>G | CA2574206607 | KIF1B | c.2786+43T>G (n.2786+43T>G) c.2849+43T>G (n.2849+43T>G) c.2924+43T>G (n.2924+43T>G) c.2882+43T>G (n.2882+43T>G) c.2846+43T>G (n.2846+43T>G) | gnomAD v4 |
1 | g.10326404G>A | CA2643181653 | KIF1B | c.2786+45G>A (n.2786+45G>A) c.2849+45G>A (n.2849+45G>A) c.2924+45G>A (n.2924+45G>A) c.2882+45G>A (n.2882+45G>A) c.2846+45G>A (n.2846+45G>A) | gnomAD v4 |
1 | g.10326404G>C | CA2643181652 | KIF1B | c.2786+45G>C (n.2786+45G>C) c.2849+45G>C (n.2849+45G>C) c.2924+45G>C (n.2924+45G>C) c.2882+45G>C (n.2882+45G>C) c.2846+45G>C (n.2846+45G>C) | gnomAD v4 |
1 | g.10326404G= | CA1153161722 | KIF1B | c.2786+45G= (n.2786+45G=) c.2849+45G= (n.2849+45G=) c.2924+45G= (n.2924+45G=) c.2882+45G= (n.2882+45G=) c.2846+45G= (n.2846+45G=) | |
1 | g.10326404G>T | CA884738171 | KIF1B | c.2786+45G>T (n.2786+45G>T) c.2849+45G>T (n.2849+45G>T) c.2924+45G>T (n.2924+45G>T) c.2882+45G>T (n.2882+45G>T) c.2846+45G>T (n.2846+45G>T) | dbSNP gnomAD v4 |
1 | g.10326405C>A | CA2643181654 | KIF1B | c.2786+46C>A (n.2786+46C>A) c.2849+46C>A (n.2849+46C>A) c.2924+46C>A (n.2924+46C>A) c.2882+46C>A (n.2882+46C>A) c.2846+46C>A (n.2846+46C>A) | gnomAD v4 |
1 | g.10326407C>A | CA2643181655 | KIF1B | c.2786+48C>A (n.2786+48C>A) c.2849+48C>A (n.2849+48C>A) c.2924+48C>A (n.2924+48C>A) c.2882+48C>A (n.2882+48C>A) c.2846+48C>A (n.2846+48C>A) | gnomAD v4 |
1 | g.10326407C= | CA1153161725 | KIF1B | c.2786+48C= (n.2786+48C=) c.2849+48C= (n.2849+48C=) c.2924+48C= (n.2924+48C=) c.2882+48C= (n.2882+48C=) c.2846+48C= (n.2846+48C=) | |
1 | g.10326407C>T | CA521452637 | KIF1B | c.2786+48C>T (n.2786+48C>T) c.2849+48C>T (n.2849+48C>T) c.2924+48C>T (n.2924+48C>T) c.2882+48C>T (n.2882+48C>T) c.2846+48C>T (n.2846+48C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10326408T>C | CA1153161730 | KIF1B | c.2786+49T>C (n.2786+49T>C) c.2849+49T>C (n.2849+49T>C) c.2924+49T>C (n.2924+49T>C) c.2882+49T>C (n.2882+49T>C) c.2846+49T>C (n.2846+49T>C) | dbSNP gnomAD v4 |
1 | g.10326408T>G | CA884738176 | KIF1B | c.2786+49T>G (n.2786+49T>G) c.2849+49T>G (n.2849+49T>G) c.2924+49T>G (n.2924+49T>G) c.2882+49T>G (n.2882+49T>G) c.2846+49T>G (n.2846+49T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.10326408T= | CA1153161729 | KIF1B | c.2786+49T= (n.2786+49T=) c.2849+49T= (n.2849+49T=) c.2924+49T= (n.2924+49T=) c.2882+49T= (n.2882+49T=) c.2846+49T= (n.2846+49T=) |