WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135785315C>A | CA375490656 | KCNT1 | c.3162C>A (p.His1054Gln) c.3003C>A (p.His1001Gln) c.2910C>A (p.His970Gln) c.2919C>A (p.His973Gln) c.3063C>A (p.His1021Gln) c.*2772C>A (n.*2772C>A) c.3045C>A (p.His1015Gln) c.3099+426C>A (n.3099+426C>A) c.3099C>A (p.His1033Gln) n.2981C>A c.3105C>A (p.His1035Gln) c.3027C>A (p.His1009Gln) c.2997C>A (p.His999Gln) c.3297C>A (p.His1099Gln) c.3306C>A (p.His1102Gln) c.2652C>A (p.His884Gln) c.3096C>A (p.His1032Gln) | |
| 9 | g.135785315C= | CA1883885292 | KCNT1 | c.3162C= (p.His1054=) c.3003C= (p.His1001=) c.2910C= (p.His970=) c.2919C= (p.His973=) c.3063C= (p.His1021=) c.*2772C= (n.*2772C=) c.3045C= (p.His1015=) c.3099+426C= (n.3099+426C=) c.3099C= (p.His1033=) n.2981C= c.3105C= (p.His1035=) c.3027C= (p.His1009=) c.2997C= (p.His999=) c.3297C= (p.His1099=) c.3306C= (p.His1102=) c.2652C= (p.His884=) c.3096C= (p.His1032=) | |
| 9 | g.135785315C>G | CA375490657 | KCNT1 | c.3162C>G (p.His1054Gln) c.3003C>G (p.His1001Gln) c.2910C>G (p.His970Gln) c.2919C>G (p.His973Gln) c.3063C>G (p.His1021Gln) c.*2772C>G (n.*2772C>G) c.3045C>G (p.His1015Gln) c.3099+426C>G (n.3099+426C>G) c.3099C>G (p.His1033Gln) n.2981C>G c.3105C>G (p.His1035Gln) c.3027C>G (p.His1009Gln) c.2997C>G (p.His999Gln) c.3297C>G (p.His1099Gln) c.3306C>G (p.His1102Gln) c.2652C>G (p.His884Gln) c.3096C>G (p.His1032Gln) | gnomAD v4 |
| 9 | g.135785315C>T | CA5327658 | KCNT1 | c.3162C>T (p.His1054=) c.3003C>T (p.His1001=) c.2910C>T (p.His970=) c.2919C>T (p.His973=) c.3063C>T (p.His1021=) c.*2772C>T (n.*2772C>T) c.3045C>T (p.His1015=) c.3099+426C>T (n.3099+426C>T) c.3099C>T (p.His1033=) n.2981C>T c.3105C>T (p.His1035=) c.3027C>T (p.His1009=) c.2997C>T (p.His999=) c.3297C>T (p.His1099=) c.3306C>T (p.His1102=) c.2652C>T (p.His884=) c.3096C>T (p.His1032=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.135785316G>A | CA5327659 | KCNT1 | c.3163G>A (p.Asp1055Asn) c.3004G>A (p.Asp1002Asn) c.2911G>A (p.Asp971Asn) c.2920G>A (p.Asp974Asn) c.3064G>A (p.Asp1022Asn) c.*2773G>A (n.*2773G>A) c.3046G>A (p.Asp1016Asn) c.3099+427G>A (n.3099+427G>A) c.3100G>A (p.Asp1034Asn) n.2982G>A c.3106G>A (p.Asp1036Asn) c.3028G>A (p.Asp1010Asn) c.2998G>A (p.Asp1000Asn) c.3298G>A (p.Asp1100Asn) c.3307G>A (p.Asp1103Asn) c.2653G>A (p.Asp885Asn) c.3097G>A (p.Asp1033Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135785316G>C | CA375490666 | KCNT1 | c.3163G>C (p.Asp1055His) c.3004G>C (p.Asp1002His) c.2911G>C (p.Asp971His) c.2920G>C (p.Asp974His) c.3064G>C (p.Asp1022His) c.*2773G>C (n.*2773G>C) c.3046G>C (p.Asp1016His) c.3099+427G>C (n.3099+427G>C) c.3100G>C (p.Asp1034His) n.2982G>C c.3106G>C (p.Asp1036His) c.3028G>C (p.Asp1010His) c.2998G>C (p.Asp1000His) c.3298G>C (p.Asp1100His) c.3307G>C (p.Asp1103His) c.2653G>C (p.Asp885His) c.3097G>C (p.Asp1033His) | |
| 9 | g.135785316G= | CA1883885303 | KCNT1 | c.3163G= (p.Asp1055=) c.3004G= (p.Asp1002=) c.2911G= (p.Asp971=) c.2920G= (p.Asp974=) c.3064G= (p.Asp1022=) c.*2773G= (n.*2773G=) c.3046G= (p.Asp1016=) c.3099+427G= (n.3099+427G=) c.3100G= (p.Asp1034=) n.2982G= c.3106G= (p.Asp1036=) c.3028G= (p.Asp1010=) c.2998G= (p.Asp1000=) c.3298G= (p.Asp1100=) c.3307G= (p.Asp1103=) c.2653G= (p.Asp885=) c.3097G= (p.Asp1033=) | |
| 9 | g.135785316G>T | CA375490662 | KCNT1 | c.3163G>T (p.Asp1055Tyr) c.3004G>T (p.Asp1002Tyr) c.2911G>T (p.Asp971Tyr) c.2920G>T (p.Asp974Tyr) c.3064G>T (p.Asp1022Tyr) c.*2773G>T (n.*2773G>T) c.3046G>T (p.Asp1016Tyr) c.3099+427G>T (n.3099+427G>T) c.3100G>T (p.Asp1034Tyr) n.2982G>T c.3106G>T (p.Asp1036Tyr) c.3028G>T (p.Asp1010Tyr) c.2998G>T (p.Asp1000Tyr) c.3298G>T (p.Asp1100Tyr) c.3307G>T (p.Asp1103Tyr) c.2653G>T (p.Asp885Tyr) c.3097G>T (p.Asp1033Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135785317A= | CA1883885310 | KCNT1 | c.3164A= (p.Asp1055=) c.3005A= (p.Asp1002=) c.2912A= (p.Asp971=) c.2921A= (p.Asp974=) c.3065A= (p.Asp1022=) c.*2774A= (n.*2774A=) c.3047A= (p.Asp1016=) c.3099+428A= (n.3099+428A=) c.3101A= (p.Asp1034=) n.2983A= c.3107A= (p.Asp1036=) c.3029A= (p.Asp1010=) c.2999A= (p.Asp1000=) c.3299A= (p.Asp1100=) c.3308A= (p.Asp1103=) c.2654A= (p.Asp885=) c.3098A= (p.Asp1033=) | |
| 9 | g.135785317A>C | CA375490669 | KCNT1 | c.3164A>C (p.Asp1055Ala) c.3005A>C (p.Asp1002Ala) c.2912A>C (p.Asp971Ala) c.2921A>C (p.Asp974Ala) c.3065A>C (p.Asp1022Ala) c.*2774A>C (n.*2774A>C) c.3047A>C (p.Asp1016Ala) c.3099+428A>C (n.3099+428A>C) c.3101A>C (p.Asp1034Ala) n.2983A>C c.3107A>C (p.Asp1036Ala) c.3029A>C (p.Asp1010Ala) c.2999A>C (p.Asp1000Ala) c.3299A>C (p.Asp1100Ala) c.3308A>C (p.Asp1103Ala) c.2654A>C (p.Asp885Ala) c.3098A>C (p.Asp1033Ala) | dbSNP |
| 9 | g.135785317A>G | CA375490670 | KCNT1 | c.3164A>G (p.Asp1055Gly) c.3005A>G (p.Asp1002Gly) c.2912A>G (p.Asp971Gly) c.2921A>G (p.Asp974Gly) c.3065A>G (p.Asp1022Gly) c.*2774A>G (n.*2774A>G) c.3047A>G (p.Asp1016Gly) c.3099+428A>G (n.3099+428A>G) c.3101A>G (p.Asp1034Gly) n.2983A>G c.3107A>G (p.Asp1036Gly) c.3029A>G (p.Asp1010Gly) c.2999A>G (p.Asp1000Gly) c.3299A>G (p.Asp1100Gly) c.3308A>G (p.Asp1103Gly) c.2654A>G (p.Asp885Gly) c.3098A>G (p.Asp1033Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135785317A>T | CA375490671 | KCNT1 | c.3164A>T (p.Asp1055Val) c.3005A>T (p.Asp1002Val) c.2912A>T (p.Asp971Val) c.2921A>T (p.Asp974Val) c.3065A>T (p.Asp1022Val) c.*2774A>T (n.*2774A>T) c.3047A>T (p.Asp1016Val) c.3099+428A>T (n.3099+428A>T) c.3101A>T (p.Asp1034Val) n.2983A>T c.3107A>T (p.Asp1036Val) c.3029A>T (p.Asp1010Val) c.2999A>T (p.Asp1000Val) c.3299A>T (p.Asp1100Val) c.3308A>T (p.Asp1103Val) c.2654A>T (p.Asp885Val) c.3098A>T (p.Asp1033Val) | |
| 9 | g.135785318C>A | CA375490674 | KCNT1 | c.3165C>A (p.Asp1055Glu) c.3006C>A (p.Asp1002Glu) c.2913C>A (p.Asp971Glu) c.2922C>A (p.Asp974Glu) c.3066C>A (p.Asp1022Glu) c.*2775C>A (n.*2775C>A) c.3048C>A (p.Asp1016Glu) c.3099+429C>A (n.3099+429C>A) c.3102C>A (p.Asp1034Glu) n.2984C>A c.3108C>A (p.Asp1036Glu) c.3030C>A (p.Asp1010Glu) c.3000C>A (p.Asp1000Glu) c.3300C>A (p.Asp1100Glu) c.3309C>A (p.Asp1103Glu) c.2655C>A (p.Asp885Glu) c.3099C>A (p.Asp1033Glu) | |
| 9 | g.135785318C= | CA1883885314 | KCNT1 | c.3165C= (p.Asp1055=) c.3006C= (p.Asp1002=) c.2913C= (p.Asp971=) c.2922C= (p.Asp974=) c.3066C= (p.Asp1022=) c.*2775C= (n.*2775C=) c.3048C= (p.Asp1016=) c.3099+429C= (n.3099+429C=) c.3102C= (p.Asp1034=) n.2984C= c.3108C= (p.Asp1036=) c.3030C= (p.Asp1010=) c.3000C= (p.Asp1000=) c.3300C= (p.Asp1100=) c.3309C= (p.Asp1103=) c.2655C= (p.Asp885=) c.3099C= (p.Asp1033=) | |
| 9 | g.135785318C>G | CA375490676 | KCNT1 | c.3165C>G (p.Asp1055Glu) c.3006C>G (p.Asp1002Glu) c.2913C>G (p.Asp971Glu) c.2922C>G (p.Asp974Glu) c.3066C>G (p.Asp1022Glu) c.*2775C>G (n.*2775C>G) c.3048C>G (p.Asp1016Glu) c.3099+429C>G (n.3099+429C>G) c.3102C>G (p.Asp1034Glu) n.2984C>G c.3108C>G (p.Asp1036Glu) c.3030C>G (p.Asp1010Glu) c.3000C>G (p.Asp1000Glu) c.3300C>G (p.Asp1100Glu) c.3309C>G (p.Asp1103Glu) c.2655C>G (p.Asp885Glu) c.3099C>G (p.Asp1033Glu) | |
| 9 | g.135785318C>T | CA467698861 | KCNT1 | c.3165C>T (p.Asp1055=) c.3006C>T (p.Asp1002=) c.2913C>T (p.Asp971=) c.2922C>T (p.Asp974=) c.3066C>T (p.Asp1022=) c.*2775C>T (n.*2775C>T) c.3048C>T (p.Asp1016=) c.3099+429C>T (n.3099+429C>T) c.3102C>T (p.Asp1034=) n.2984C>T c.3108C>T (p.Asp1036=) c.3030C>T (p.Asp1010=) c.3000C>T (p.Asp1000=) c.3300C>T (p.Asp1100=) c.3309C>T (p.Asp1103=) c.2655C>T (p.Asp885=) c.3099C>T (p.Asp1033=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135785319C>A | CA375490684 | KCNT1 | c.3166C>A (p.Leu1056Ile) c.3007C>A (p.Leu1003Ile) c.2914C>A (p.Leu972Ile) c.2923C>A (p.Leu975Ile) c.3067C>A (p.Leu1023Ile) c.*2776C>A (n.*2776C>A) c.3049C>A (p.Leu1017Ile) c.3099+430C>A (n.3099+430C>A) c.3103C>A (p.Leu1035Ile) n.2985C>A c.3109C>A (p.Leu1037Ile) c.3031C>A (p.Leu1011Ile) c.3001C>A (p.Leu1001Ile) c.3301C>A (p.Leu1101Ile) c.3310C>A (p.Leu1104Ile) c.2656C>A (p.Leu886Ile) c.3100C>A (p.Leu1034Ile) | |
| 9 | g.135785319C>G | CA375490679 | KCNT1 | c.3166C>G (p.Leu1056Val) c.3007C>G (p.Leu1003Val) c.2914C>G (p.Leu972Val) c.2923C>G (p.Leu975Val) c.3067C>G (p.Leu1023Val) c.*2776C>G (n.*2776C>G) c.3049C>G (p.Leu1017Val) c.3099+430C>G (n.3099+430C>G) c.3103C>G (p.Leu1035Val) n.2985C>G c.3109C>G (p.Leu1037Val) c.3031C>G (p.Leu1011Val) c.3001C>G (p.Leu1001Val) c.3301C>G (p.Leu1101Val) c.3310C>G (p.Leu1104Val) c.2656C>G (p.Leu886Val) c.3100C>G (p.Leu1034Val) | |
| 9 | g.135785319C>T | CA375490682 | KCNT1 | c.3166C>T (p.Leu1056Phe) c.3007C>T (p.Leu1003Phe) c.2914C>T (p.Leu972Phe) c.2923C>T (p.Leu975Phe) c.3067C>T (p.Leu1023Phe) c.*2776C>T (n.*2776C>T) c.3049C>T (p.Leu1017Phe) c.3099+430C>T (n.3099+430C>T) c.3103C>T (p.Leu1035Phe) n.2985C>T c.3109C>T (p.Leu1037Phe) c.3031C>T (p.Leu1011Phe) c.3001C>T (p.Leu1001Phe) c.3301C>T (p.Leu1101Phe) c.3310C>T (p.Leu1104Phe) c.2656C>T (p.Leu886Phe) c.3100C>T (p.Leu1034Phe) | |
| 9 | g.135785320T>A | CA375490686 | KCNT1 | c.3167T>A (p.Leu1056His) c.3008T>A (p.Leu1003His) c.2915T>A (p.Leu972His) c.2924T>A (p.Leu975His) c.3068T>A (p.Leu1023His) c.*2777T>A (n.*2777T>A) c.3050T>A (p.Leu1017His) c.3099+431T>A (n.3099+431T>A) c.3104T>A (p.Leu1035His) n.2986T>A c.3110T>A (p.Leu1037His) c.3032T>A (p.Leu1011His) c.3002T>A (p.Leu1001His) c.3302T>A (p.Leu1101His) c.3311T>A (p.Leu1104His) c.2657T>A (p.Leu886His) c.3101T>A (p.Leu1034His) | |
| 9 | g.135785320T>C | CA375490689 | KCNT1 | c.3167T>C (p.Leu1056Pro) c.3008T>C (p.Leu1003Pro) c.2915T>C (p.Leu972Pro) c.2924T>C (p.Leu975Pro) c.3068T>C (p.Leu1023Pro) c.*2777T>C (n.*2777T>C) c.3050T>C (p.Leu1017Pro) c.3099+431T>C (n.3099+431T>C) c.3104T>C (p.Leu1035Pro) n.2986T>C c.3110T>C (p.Leu1037Pro) c.3032T>C (p.Leu1011Pro) c.3002T>C (p.Leu1001Pro) c.3302T>C (p.Leu1101Pro) c.3311T>C (p.Leu1104Pro) c.2657T>C (p.Leu886Pro) c.3101T>C (p.Leu1034Pro) | |
| 9 | g.135785320T>G | CA375490692 | KCNT1 | c.3167T>G (p.Leu1056Arg) c.3008T>G (p.Leu1003Arg) c.2915T>G (p.Leu972Arg) c.2924T>G (p.Leu975Arg) c.3068T>G (p.Leu1023Arg) c.*2777T>G (n.*2777T>G) c.3050T>G (p.Leu1017Arg) c.3099+431T>G (n.3099+431T>G) c.3104T>G (p.Leu1035Arg) n.2986T>G c.3110T>G (p.Leu1037Arg) c.3032T>G (p.Leu1011Arg) c.3002T>G (p.Leu1001Arg) c.3302T>G (p.Leu1101Arg) c.3311T>G (p.Leu1104Arg) c.2657T>G (p.Leu886Arg) c.3101T>G (p.Leu1034Arg) | |
| 9 | g.135785321C>A | CA467698862 | KCNT1 | c.3168C>A (p.Leu1056=) c.3009C>A (p.Leu1003=) c.2916C>A (p.Leu972=) c.2925C>A (p.Leu975=) c.3069C>A (p.Leu1023=) c.*2778C>A (n.*2778C>A) c.3051C>A (p.Leu1017=) c.3099+432C>A (n.3099+432C>A) c.3105C>A (p.Leu1035=) n.2987C>A c.3111C>A (p.Leu1037=) c.3033C>A (p.Leu1011=) c.3003C>A (p.Leu1001=) c.3303C>A (p.Leu1101=) c.3312C>A (p.Leu1104=) c.2658C>A (p.Leu886=) c.3102C>A (p.Leu1034=) | |
| 9 | g.135785321C>G | CA467698863 | KCNT1 | c.3168C>G (p.Leu1056=) c.3009C>G (p.Leu1003=) c.2916C>G (p.Leu972=) c.2925C>G (p.Leu975=) c.3069C>G (p.Leu1023=) c.*2778C>G (n.*2778C>G) c.3051C>G (p.Leu1017=) c.3099+432C>G (n.3099+432C>G) c.3105C>G (p.Leu1035=) n.2987C>G c.3111C>G (p.Leu1037=) c.3033C>G (p.Leu1011=) c.3003C>G (p.Leu1001=) c.3303C>G (p.Leu1101=) c.3312C>G (p.Leu1104=) c.2658C>G (p.Leu886=) c.3102C>G (p.Leu1034=) | |
| 9 | g.135785321C>T | CA467698864 | KCNT1 | c.3168C>T (p.Leu1056=) c.3009C>T (p.Leu1003=) c.2916C>T (p.Leu972=) c.2925C>T (p.Leu975=) c.3069C>T (p.Leu1023=) c.*2778C>T (n.*2778C>T) c.3051C>T (p.Leu1017=) c.3099+432C>T (n.3099+432C>T) c.3105C>T (p.Leu1035=) n.2987C>T c.3111C>T (p.Leu1037=) c.3033C>T (p.Leu1011=) c.3003C>T (p.Leu1001=) c.3303C>T (p.Leu1101=) c.3312C>T (p.Leu1104=) c.2658C>T (p.Leu886=) c.3102C>T (p.Leu1034=) | gnomAD v4 |
| 9 | g.135785322A>C | CA467698865 | KCNT1 | c.3169A>C (p.Arg1057=) c.3010A>C (p.Arg1004=) c.2917A>C (p.Arg973=) c.2926A>C (p.Arg976=) c.3070A>C (p.Arg1024=) c.*2779A>C (n.*2779A>C) c.3052A>C (p.Arg1018=) c.3099+433A>C (n.3099+433A>C) c.3106A>C (p.Arg1036=) n.2988A>C c.3112A>C (p.Arg1038=) c.3034A>C (p.Arg1012=) c.3004A>C (p.Arg1002=) c.3304A>C (p.Arg1102=) c.3313A>C (p.Arg1105=) c.2659A>C (p.Arg887=) c.3103A>C (p.Arg1035=) | |
| 9 | g.135785322A>G | CA375490694 | KCNT1 | c.3169A>G (p.Arg1057Gly) c.3010A>G (p.Arg1004Gly) c.2917A>G (p.Arg973Gly) c.2926A>G (p.Arg976Gly) c.3070A>G (p.Arg1024Gly) c.*2779A>G (n.*2779A>G) c.3052A>G (p.Arg1018Gly) c.3099+433A>G (n.3099+433A>G) c.3106A>G (p.Arg1036Gly) n.2988A>G c.3112A>G (p.Arg1038Gly) c.3034A>G (p.Arg1012Gly) c.3004A>G (p.Arg1002Gly) c.3304A>G (p.Arg1102Gly) c.3313A>G (p.Arg1105Gly) c.2659A>G (p.Arg887Gly) c.3103A>G (p.Arg1035Gly) | gnomAD v4 |
| 9 | g.135785322A>T | CA375490696 | KCNT1 | c.3169A>T (p.Arg1057Ter) c.3010A>T (p.Arg1004Ter) c.2917A>T (p.Arg973Ter) c.2926A>T (p.Arg976Ter) c.3070A>T (p.Arg1024Ter) c.*2779A>T (n.*2779A>T) c.3052A>T (p.Arg1018Ter) c.3099+433A>T (n.3099+433A>T) c.3106A>T (p.Arg1036Ter) n.2988A>T c.3112A>T (p.Arg1038Ter) c.3034A>T (p.Arg1012Ter) c.3004A>T (p.Arg1002Ter) c.3304A>T (p.Arg1102Ter) c.3313A>T (p.Arg1105Ter) c.2659A>T (p.Arg887Ter) c.3103A>T (p.Arg1035Ter) | |
| 9 | g.135785323G>A | CA375490703 | KCNT1 | c.3170G>A (p.Arg1057Lys) c.3011G>A (p.Arg1004Lys) c.2918G>A (p.Arg973Lys) c.2927G>A (p.Arg976Lys) c.3071G>A (p.Arg1024Lys) c.*2780G>A (n.*2780G>A) c.3053G>A (p.Arg1018Lys) c.3099+434G>A (n.3099+434G>A) c.3107G>A (p.Arg1036Lys) n.2989G>A c.3113G>A (p.Arg1038Lys) c.3035G>A (p.Arg1012Lys) c.3005G>A (p.Arg1002Lys) c.3305G>A (p.Arg1102Lys) c.3314G>A (p.Arg1105Lys) c.2660G>A (p.Arg887Lys) c.3104G>A (p.Arg1035Lys) | |
| 9 | g.135785323G>C | CA375490701 | KCNT1 | c.3170G>C (p.Arg1057Thr) c.3011G>C (p.Arg1004Thr) c.2918G>C (p.Arg973Thr) c.2927G>C (p.Arg976Thr) c.3071G>C (p.Arg1024Thr) c.*2780G>C (n.*2780G>C) c.3053G>C (p.Arg1018Thr) c.3099+434G>C (n.3099+434G>C) c.3107G>C (p.Arg1036Thr) n.2989G>C c.3113G>C (p.Arg1038Thr) c.3035G>C (p.Arg1012Thr) c.3005G>C (p.Arg1002Thr) c.3305G>C (p.Arg1102Thr) c.3314G>C (p.Arg1105Thr) c.2660G>C (p.Arg887Thr) c.3104G>C (p.Arg1035Thr) | |
| 9 | g.135785323G>T | CA375490698 | KCNT1 | c.3170G>T (p.Arg1057Ile) c.3011G>T (p.Arg1004Ile) c.2918G>T (p.Arg973Ile) c.2927G>T (p.Arg976Ile) c.3071G>T (p.Arg1024Ile) c.*2780G>T (n.*2780G>T) c.3053G>T (p.Arg1018Ile) c.3099+434G>T (n.3099+434G>T) c.3107G>T (p.Arg1036Ile) n.2989G>T c.3113G>T (p.Arg1038Ile) c.3035G>T (p.Arg1012Ile) c.3005G>T (p.Arg1002Ile) c.3305G>T (p.Arg1102Ile) c.3314G>T (p.Arg1105Ile) c.2660G>T (p.Arg887Ile) c.3104G>T (p.Arg1035Ile) | |
| 9 | g.135785324A= | CA1883885317 | KCNT1 | c.3171A= (p.Arg1057=) c.3012A= (p.Arg1004=) c.2919A= (p.Arg973=) c.2928A= (p.Arg976=) c.3072A= (p.Arg1024=) c.*2781A= (n.*2781A=) c.3054A= (p.Arg1018=) c.3099+435A= (n.3099+435A=) c.3108A= (p.Arg1036=) n.2990A= c.3114A= (p.Arg1038=) c.3036A= (p.Arg1012=) c.3006A= (p.Arg1002=) c.3306A= (p.Arg1102=) c.3315A= (p.Arg1105=) c.2661A= (p.Arg887=) c.3105A= (p.Arg1035=) | |
| 9 | g.135785324A>C | CA375490706 | KCNT1 | c.3171A>C (p.Arg1057Ser) c.3012A>C (p.Arg1004Ser) c.2919A>C (p.Arg973Ser) c.2928A>C (p.Arg976Ser) c.3072A>C (p.Arg1024Ser) c.*2781A>C (n.*2781A>C) c.3054A>C (p.Arg1018Ser) c.3099+435A>C (n.3099+435A>C) c.3108A>C (p.Arg1036Ser) n.2990A>C c.3114A>C (p.Arg1038Ser) c.3036A>C (p.Arg1012Ser) c.3006A>C (p.Arg1002Ser) c.3306A>C (p.Arg1102Ser) c.3315A>C (p.Arg1105Ser) c.2661A>C (p.Arg887Ser) c.3105A>C (p.Arg1035Ser) | |
| 9 | g.135785324A>G | CA467698866 | KCNT1 | c.3171A>G (p.Arg1057=) c.3012A>G (p.Arg1004=) c.2919A>G (p.Arg973=) c.2928A>G (p.Arg976=) c.3072A>G (p.Arg1024=) c.*2781A>G (n.*2781A>G) c.3054A>G (p.Arg1018=) c.3099+435A>G (n.3099+435A>G) c.3108A>G (p.Arg1036=) n.2990A>G c.3114A>G (p.Arg1038=) c.3036A>G (p.Arg1012=) c.3006A>G (p.Arg1002=) c.3306A>G (p.Arg1102=) c.3315A>G (p.Arg1105=) c.2661A>G (p.Arg887=) c.3105A>G (p.Arg1035=) | |
| 9 | g.135785324A>T | CA375490708 | KCNT1 | c.3171A>T (p.Arg1057Ser) c.3012A>T (p.Arg1004Ser) c.2919A>T (p.Arg973Ser) c.2928A>T (p.Arg976Ser) c.3072A>T (p.Arg1024Ser) c.*2781A>T (n.*2781A>T) c.3054A>T (p.Arg1018Ser) c.3099+435A>T (n.3099+435A>T) c.3108A>T (p.Arg1036Ser) n.2990A>T c.3114A>T (p.Arg1038Ser) c.3036A>T (p.Arg1012Ser) c.3006A>T (p.Arg1002Ser) c.3306A>T (p.Arg1102Ser) c.3315A>T (p.Arg1105Ser) c.2661A>T (p.Arg887Ser) c.3105A>T (p.Arg1035Ser) | |
| 9 | g.135785325G>A | CA375490712 | KCNT1 | c.3172G>A (p.Ala1058Thr) c.3013G>A (p.Ala1005Thr) c.2920G>A (p.Ala974Thr) c.2929G>A (p.Ala977Thr) c.3073G>A (p.Ala1025Thr) c.*2782G>A (n.*2782G>A) c.3055G>A (p.Ala1019Thr) c.3099+436G>A (n.3099+436G>A) c.3109G>A (p.Ala1037Thr) n.2991G>A c.3115G>A (p.Ala1039Thr) c.3037G>A (p.Ala1013Thr) c.3007G>A (p.Ala1003Thr) c.3307G>A (p.Ala1103Thr) c.3316G>A (p.Ala1106Thr) c.2662G>A (p.Ala888Thr) c.3106G>A (p.Ala1036Thr) | ClinVar dbSNP |
| 9 | g.135785325G>C | CA375490714 | KCNT1 | c.3172G>C (p.Ala1058Pro) c.3013G>C (p.Ala1005Pro) c.2920G>C (p.Ala974Pro) c.2929G>C (p.Ala977Pro) c.3073G>C (p.Ala1025Pro) c.*2782G>C (n.*2782G>C) c.3055G>C (p.Ala1019Pro) c.3099+436G>C (n.3099+436G>C) c.3109G>C (p.Ala1037Pro) n.2991G>C c.3115G>C (p.Ala1039Pro) c.3037G>C (p.Ala1013Pro) c.3007G>C (p.Ala1003Pro) c.3307G>C (p.Ala1103Pro) c.3316G>C (p.Ala1106Pro) c.2662G>C (p.Ala888Pro) c.3106G>C (p.Ala1036Pro) | |
| 9 | g.135785325G= | CA1883885325 | KCNT1 | c.3172G= (p.Ala1058=) c.3013G= (p.Ala1005=) c.2920G= (p.Ala974=) c.2929G= (p.Ala977=) c.3073G= (p.Ala1025=) c.*2782G= (n.*2782G=) c.3055G= (p.Ala1019=) c.3099+436G= (n.3099+436G=) c.3109G= (p.Ala1037=) n.2991G= c.3115G= (p.Ala1039=) c.3037G= (p.Ala1013=) c.3007G= (p.Ala1003=) c.3307G= (p.Ala1103=) c.3316G= (p.Ala1106=) c.2662G= (p.Ala888=) c.3106G= (p.Ala1036=) | |
| 9 | g.135785325G>T | CA375490717 | KCNT1 | c.3172G>T (p.Ala1058Ser) c.3013G>T (p.Ala1005Ser) c.2920G>T (p.Ala974Ser) c.2929G>T (p.Ala977Ser) c.3073G>T (p.Ala1025Ser) c.*2782G>T (n.*2782G>T) c.3055G>T (p.Ala1019Ser) c.3099+436G>T (n.3099+436G>T) c.3109G>T (p.Ala1037Ser) n.2991G>T c.3115G>T (p.Ala1039Ser) c.3037G>T (p.Ala1013Ser) c.3007G>T (p.Ala1003Ser) c.3307G>T (p.Ala1103Ser) c.3316G>T (p.Ala1106Ser) c.2662G>T (p.Ala888Ser) c.3106G>T (p.Ala1036Ser) | |
| 9 | g.135785330_135785352dup | CA916083084 | KCNT1 | c.3177_3177+22dup c.3018_3018+22dup c.2925_2925+22dup c.2934_2934+22dup c.3078_3078+22dup c.*2787_*2787+22dup c.3060_3060+22dup c.3099+441_3099+463dup (n.3099+441_3099+463dup) c.3114_3114+22dup n.2996_3018dup c.3120_3120+22dup c.3042_3042+22dup c.3012_3012+22dup c.3312_3312+22dup c.3321_3321+22dup c.2667_2667+22dup c.3111_3111+22dup | ClinVar dbSNP gnomAD v4 |
| 9 | g.135785326C>A | CA375490720 | KCNT1 | c.3173C>A (p.Ala1058Asp) c.3014C>A (p.Ala1005Asp) c.2921C>A (p.Ala974Asp) c.2930C>A (p.Ala977Asp) c.3074C>A (p.Ala1025Asp) c.*2783C>A (n.*2783C>A) c.3056C>A (p.Ala1019Asp) c.3099+437C>A (n.3099+437C>A) c.3110C>A (p.Ala1037Asp) n.2992C>A c.3116C>A (p.Ala1039Asp) c.3038C>A (p.Ala1013Asp) c.3008C>A (p.Ala1003Asp) c.3308C>A (p.Ala1103Asp) c.3317C>A (p.Ala1106Asp) c.2663C>A (p.Ala888Asp) c.3107C>A (p.Ala1036Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135785326C= | CA1883885328 | KCNT1 | c.3173C= (p.Ala1058=) c.3014C= (p.Ala1005=) c.2921C= (p.Ala974=) c.2930C= (p.Ala977=) c.3074C= (p.Ala1025=) c.*2783C= (n.*2783C=) c.3056C= (p.Ala1019=) c.3099+437C= (n.3099+437C=) c.3110C= (p.Ala1037=) n.2992C= c.3116C= (p.Ala1039=) c.3038C= (p.Ala1013=) c.3008C= (p.Ala1003=) c.3308C= (p.Ala1103=) c.3317C= (p.Ala1106=) c.2663C= (p.Ala888=) c.3107C= (p.Ala1036=) | |
| 9 | g.135785326C>G | CA375490721 | KCNT1 | c.3173C>G (p.Ala1058Gly) c.3014C>G (p.Ala1005Gly) c.2921C>G (p.Ala974Gly) c.2930C>G (p.Ala977Gly) c.3074C>G (p.Ala1025Gly) c.*2783C>G (n.*2783C>G) c.3056C>G (p.Ala1019Gly) c.3099+437C>G (n.3099+437C>G) c.3110C>G (p.Ala1037Gly) n.2992C>G c.3116C>G (p.Ala1039Gly) c.3038C>G (p.Ala1013Gly) c.3008C>G (p.Ala1003Gly) c.3308C>G (p.Ala1103Gly) c.3317C>G (p.Ala1106Gly) c.2663C>G (p.Ala888Gly) c.3107C>G (p.Ala1036Gly) | |
| 9 | g.135785326C>T | CA5327660 | KCNT1 | c.3173C>T (p.Ala1058Val) c.3014C>T (p.Ala1005Val) c.2921C>T (p.Ala974Val) c.2930C>T (p.Ala977Val) c.3074C>T (p.Ala1025Val) c.*2783C>T (n.*2783C>T) c.3056C>T (p.Ala1019Val) c.3099+437C>T (n.3099+437C>T) c.3110C>T (p.Ala1037Val) n.2992C>T c.3116C>T (p.Ala1039Val) c.3038C>T (p.Ala1013Val) c.3008C>T (p.Ala1003Val) c.3308C>T (p.Ala1103Val) c.3317C>T (p.Ala1106Val) c.2663C>T (p.Ala888Val) c.3107C>T (p.Ala1036Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135785327C>A | CA467698867 | KCNT1 | c.3174C>A (p.Ala1058=) c.3015C>A (p.Ala1005=) c.2922C>A (p.Ala974=) c.2931C>A (p.Ala977=) c.3075C>A (p.Ala1025=) c.*2784C>A (n.*2784C>A) c.3057C>A (p.Ala1019=) c.3099+438C>A (n.3099+438C>A) c.3111C>A (p.Ala1037=) n.2993C>A c.3117C>A (p.Ala1039=) c.3039C>A (p.Ala1013=) c.3009C>A (p.Ala1003=) c.3309C>A (p.Ala1103=) c.3318C>A (p.Ala1106=) c.2664C>A (p.Ala888=) c.3108C>A (p.Ala1036=) | |
| 9 | g.135785327C>G | CA467698868 | KCNT1 | c.3174C>G (p.Ala1058=) c.3015C>G (p.Ala1005=) c.2922C>G (p.Ala974=) c.2931C>G (p.Ala977=) c.3075C>G (p.Ala1025=) c.*2784C>G (n.*2784C>G) c.3057C>G (p.Ala1019=) c.3099+438C>G (n.3099+438C>G) c.3111C>G (p.Ala1037=) n.2993C>G c.3117C>G (p.Ala1039=) c.3039C>G (p.Ala1013=) c.3009C>G (p.Ala1003=) c.3309C>G (p.Ala1103=) c.3318C>G (p.Ala1106=) c.2664C>G (p.Ala888=) c.3108C>G (p.Ala1036=) | |
| 9 | g.135785327C>T | CA467698869 | KCNT1 | c.3174C>T (p.Ala1058=) c.3015C>T (p.Ala1005=) c.2922C>T (p.Ala974=) c.2931C>T (p.Ala977=) c.3075C>T (p.Ala1025=) c.*2784C>T (n.*2784C>T) c.3057C>T (p.Ala1019=) c.3099+438C>T (n.3099+438C>T) c.3111C>T (p.Ala1037=) n.2993C>T c.3117C>T (p.Ala1039=) c.3039C>T (p.Ala1013=) c.3009C>T (p.Ala1003=) c.3309C>T (p.Ala1103=) c.3318C>T (p.Ala1106=) c.2664C>T (p.Ala888=) c.3108C>T (p.Ala1036=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.135785328C>A | CA375490729 | KCNT1 | c.3175C>A (p.Gln1059Lys) c.3016C>A (p.Gln1006Lys) c.2923C>A (p.Gln975Lys) c.2932C>A (p.Gln978Lys) c.3076C>A (p.Gln1026Lys) c.*2785C>A (n.*2785C>A) c.3058C>A (p.Gln1020Lys) c.3099+439C>A (n.3099+439C>A) c.3112C>A (p.Gln1038Lys) n.2994C>A c.3118C>A (p.Gln1040Lys) c.3040C>A (p.Gln1014Lys) c.3010C>A (p.Gln1004Lys) c.3310C>A (p.Gln1104Lys) c.3319C>A (p.Gln1107Lys) c.2665C>A (p.Gln889Lys) c.3109C>A (p.Gln1037Lys) | |
| 9 | g.135785328C>G | CA375490725 | KCNT1 | c.3175C>G (p.Gln1059Glu) c.3016C>G (p.Gln1006Glu) c.2923C>G (p.Gln975Glu) c.2932C>G (p.Gln978Glu) c.3076C>G (p.Gln1026Glu) c.*2785C>G (n.*2785C>G) c.3058C>G (p.Gln1020Glu) c.3099+439C>G (n.3099+439C>G) c.3112C>G (p.Gln1038Glu) n.2994C>G c.3118C>G (p.Gln1040Glu) c.3040C>G (p.Gln1014Glu) c.3010C>G (p.Gln1004Glu) c.3310C>G (p.Gln1104Glu) c.3319C>G (p.Gln1107Glu) c.2665C>G (p.Gln889Glu) c.3109C>G (p.Gln1037Glu) | |
| 9 | g.135785328C>T | CA375490728 | KCNT1 | c.3175C>T (p.Gln1059Ter) c.3016C>T (p.Gln1006Ter) c.2923C>T (p.Gln975Ter) c.2932C>T (p.Gln978Ter) c.3076C>T (p.Gln1026Ter) c.*2785C>T (n.*2785C>T) c.3058C>T (p.Gln1020Ter) c.3099+439C>T (n.3099+439C>T) c.3112C>T (p.Gln1038Ter) n.2994C>T c.3118C>T (p.Gln1040Ter) c.3040C>T (p.Gln1014Ter) c.3010C>T (p.Gln1004Ter) c.3310C>T (p.Gln1104Ter) c.3319C>T (p.Gln1107Ter) c.2665C>T (p.Gln889Ter) c.3109C>T (p.Gln1037Ter) |