| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.15402194T>A | CA424868932 | NBAS | c.1142A>T n.3058A>T c.3045A>T (p.Leu1015=) c.337A>T c.186A>T (p.Leu62=) c.188A>T n.3089A>T c.2916A>T (p.Leu972=) c.2406A>T (p.Leu802=) c.846A>T (p.Leu282=) c.837A>T (p.Leu279=) n.3075A>T | |
| 2 | g.15402194T>C | CA424868931 | NBAS | c.1142A>G n.3058A>G c.3045A>G (p.Leu1015=) c.337A>G c.186A>G (p.Leu62=) c.188A>G n.3089A>G c.2916A>G (p.Leu972=) c.2406A>G (p.Leu802=) c.846A>G (p.Leu282=) c.837A>G (p.Leu279=) n.3075A>G | dbSNP |
| 2 | g.15402194T>G | CA424868930 | NBAS | c.1142A>C n.3058A>C c.3045A>C (p.Leu1015=) c.337A>C c.186A>C (p.Leu62=) c.188A>C n.3089A>C c.2916A>C (p.Leu972=) c.2406A>C (p.Leu802=) c.846A>C (p.Leu282=) c.837A>C (p.Leu279=) n.3075A>C | |
| 2 | g.15402194T= | CA2490879595 | NBAS | c.1142A= n.3058A= c.3045A= (p.Leu1015=) c.337A= c.186A= (p.Leu62=) c.188A= n.3089A= c.2916A= (p.Leu972=) c.2406A= (p.Leu802=) c.846A= (p.Leu282=) c.837A= (p.Leu279=) n.3075A= | |
| 2 | g.15402195del | CA2657911717 | NBAS | c.1141del n.3057del c.3044del (p.Leu1015GlnfsTer23) c.336del c.185del (p.Leu62GlnfsTer23) c.187del n.3088del c.2915del (p.Leu972GlnfsTer23) c.2405del (p.Leu802GlnfsTer23) c.845del (p.Leu282GlnfsTer23) c.836del (p.Leu279GlnfsTer23) n.3074del | gnomAD v4 |
| 2 | g.15402195A= | CA2490879596 | NBAS | c.1141T= n.3057T= c.3044T= (p.Leu1015=) c.336T= c.185T= (p.Leu62=) c.187T= n.3088T= c.2915T= (p.Leu972=) c.2405T= (p.Leu802=) c.845T= (p.Leu282=) c.836T= (p.Leu279=) n.3074T= | |
| 2 | g.15402195A>C | CA345881908 | NBAS | c.1141T>G n.3057T>G c.3044T>G (p.Leu1015Arg) c.336T>G c.185T>G (p.Leu62Arg) c.187T>G n.3088T>G c.2915T>G (p.Leu972Arg) c.2405T>G (p.Leu802Arg) c.845T>G (p.Leu282Arg) c.836T>G (p.Leu279Arg) n.3074T>G | |
| 2 | g.15402195A>G | CA1536187 | NBAS | c.1141T>C n.3057T>C c.3044T>C (p.Leu1015Pro) c.336T>C c.185T>C (p.Leu62Pro) c.187T>C n.3088T>C c.2915T>C (p.Leu972Pro) c.2405T>C (p.Leu802Pro) c.845T>C (p.Leu282Pro) c.836T>C (p.Leu279Pro) n.3074T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.15402195A>T | CA345881910 | NBAS | c.1141T>A n.3057T>A c.3044T>A (p.Leu1015Gln) c.336T>A c.185T>A (p.Leu62Gln) c.187T>A n.3088T>A c.2915T>A (p.Leu972Gln) c.2405T>A (p.Leu802Gln) c.845T>A (p.Leu282Gln) c.836T>A (p.Leu279Gln) n.3074T>A | |
| 2 | g.15402196G>A | CA424868933 | NBAS | c.1140C>T n.3056C>T c.3043C>T (p.Leu1015=) c.335C>T c.184C>T (p.Leu62=) c.186C>T n.3087C>T c.2914C>T (p.Leu972=) c.2404C>T (p.Leu802=) c.844C>T (p.Leu282=) c.835C>T (p.Leu279=) n.3073C>T | |
| 2 | g.15402196G>C | CA345881913 | NBAS | c.1140C>G n.3056C>G c.3043C>G (p.Leu1015Val) c.335C>G c.184C>G (p.Leu62Val) c.186C>G n.3087C>G c.2914C>G (p.Leu972Val) c.2404C>G (p.Leu802Val) c.844C>G (p.Leu282Val) c.835C>G (p.Leu279Val) n.3073C>G | gnomAD v4 |
| 2 | g.15402196G>T | CA345881912 | NBAS | c.1140C>A n.3056C>A c.3043C>A (p.Leu1015Ile) c.335C>A c.184C>A (p.Leu62Ile) c.186C>A n.3087C>A c.2914C>A (p.Leu972Ile) c.2404C>A (p.Leu802Ile) c.844C>A (p.Leu282Ile) c.835C>A (p.Leu279Ile) n.3073C>A | |
| 2 | g.15402197T>A | CA424868934 | NBAS | c.1139A>T n.3055A>T c.3042A>T (p.Leu1014=) c.334A>T c.183A>T (p.Leu61=) c.185A>T n.3086A>T c.2913A>T (p.Leu971=) c.2403A>T (p.Leu801=) c.843A>T (p.Leu281=) c.834A>T (p.Leu278=) n.3072A>T | |
| 2 | g.15402197T>C | CA1536188 | NBAS | c.1139A>G n.3055A>G c.3042A>G (p.Leu1014=) c.334A>G c.183A>G (p.Leu61=) c.185A>G n.3086A>G c.2913A>G (p.Leu971=) c.2403A>G (p.Leu801=) c.843A>G (p.Leu281=) c.834A>G (p.Leu278=) n.3072A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15402197T>G | CA424868935 | NBAS | c.1139A>C n.3055A>C c.3042A>C (p.Leu1014=) c.334A>C c.183A>C (p.Leu61=) c.185A>C n.3086A>C c.2913A>C (p.Leu971=) c.2403A>C (p.Leu801=) c.843A>C (p.Leu281=) c.834A>C (p.Leu278=) n.3072A>C | |
| 2 | g.15402197T= | CA2490879597 | NBAS | c.1139A= n.3055A= c.3042A= (p.Leu1014=) c.334A= c.183A= (p.Leu61=) c.185A= n.3086A= c.2913A= (p.Leu971=) c.2403A= (p.Leu801=) c.843A= (p.Leu281=) c.834A= (p.Leu278=) n.3072A= | |
| 2 | g.15402198A>C | CA345881917 | NBAS | c.1138T>G n.3054T>G c.3041T>G (p.Leu1014Arg) c.333T>G c.182T>G (p.Leu61Arg) c.184T>G n.3085T>G c.2912T>G (p.Leu971Arg) c.2402T>G (p.Leu801Arg) c.842T>G (p.Leu281Arg) c.833T>G (p.Leu278Arg) n.3071T>G | |
| 2 | g.15402198A>G | CA345881919 | NBAS | c.1138T>C n.3054T>C c.3041T>C (p.Leu1014Pro) c.333T>C c.182T>C (p.Leu61Pro) c.184T>C n.3085T>C c.2912T>C (p.Leu971Pro) c.2402T>C (p.Leu801Pro) c.842T>C (p.Leu281Pro) c.833T>C (p.Leu278Pro) n.3071T>C | |
| 2 | g.15402198A>T | CA345881921 | NBAS | c.1138T>A n.3054T>A c.3041T>A (p.Leu1014Gln) c.333T>A c.182T>A (p.Leu61Gln) c.184T>A n.3085T>A c.2912T>A (p.Leu971Gln) c.2402T>A (p.Leu801Gln) c.842T>A (p.Leu281Gln) c.833T>A (p.Leu278Gln) n.3071T>A | |
| 2 | g.15402199G>A | CA424868936 | NBAS | c.1137C>T n.3053C>T c.3040C>T (p.Leu1014=) c.332C>T c.181C>T (p.Leu61=) c.183C>T n.3084C>T c.2911C>T (p.Leu971=) c.2401C>T (p.Leu801=) c.841C>T (p.Leu281=) c.832C>T (p.Leu278=) n.3070C>T | gnomAD v4 |
| 2 | g.15402199G>C | CA345881923 | NBAS | c.1137C>G n.3053C>G c.3040C>G (p.Leu1014Val) c.332C>G c.181C>G (p.Leu61Val) c.183C>G n.3084C>G c.2911C>G (p.Leu971Val) c.2401C>G (p.Leu801Val) c.841C>G (p.Leu281Val) c.832C>G (p.Leu278Val) n.3070C>G | |
| 2 | g.15402199G>T | CA345881924 | NBAS | c.1137C>A n.3053C>A c.3040C>A (p.Leu1014Ile) c.332C>A c.181C>A (p.Leu61Ile) c.183C>A n.3084C>A c.2911C>A (p.Leu971Ile) c.2401C>A (p.Leu801Ile) c.841C>A (p.Leu281Ile) c.832C>A (p.Leu278Ile) n.3070C>A | dbSNP |
| 2 | g.15402200G>A | CA424868937 | NBAS | c.1136C>T n.3052C>T c.3039C>T (p.Asp1013=) c.331C>T c.180C>T (p.Asp60=) c.182C>T n.3083C>T c.2910C>T (p.Asp970=) c.2400C>T (p.Asp800=) c.840C>T (p.Asp280=) c.831C>T (p.Asp277=) n.3069C>T | |
| 2 | g.15402200G>C | CA345881926 | NBAS | c.1136C>G n.3052C>G c.3039C>G (p.Asp1013Glu) c.331C>G c.180C>G (p.Asp60Glu) c.182C>G n.3083C>G c.2910C>G (p.Asp970Glu) c.2400C>G (p.Asp800Glu) c.840C>G (p.Asp280Glu) c.831C>G (p.Asp277Glu) n.3069C>G | |
| 2 | g.15402200G= | CA2490879598 | NBAS | c.1136C= n.3052C= c.3039C= (p.Asp1013=) c.331C= c.180C= (p.Asp60=) c.182C= n.3083C= c.2910C= (p.Asp970=) c.2400C= (p.Asp800=) c.840C= (p.Asp280=) c.831C= (p.Asp277=) n.3069C= | |
| 2 | g.15402200G>T | CA1536189 | NBAS | c.1136C>A n.3052C>A c.3039C>A (p.Asp1013Glu) c.331C>A c.180C>A (p.Asp60Glu) c.182C>A n.3083C>A c.2910C>A (p.Asp970Glu) c.2400C>A (p.Asp800Glu) c.840C>A (p.Asp280Glu) c.831C>A (p.Asp277Glu) n.3069C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15402201T>A | CA345881929 | NBAS | c.1135A>T n.3051A>T c.3038A>T (p.Asp1013Val) c.330A>T c.179A>T (p.Asp60Val) c.181A>T n.3082A>T c.2909A>T (p.Asp970Val) c.2399A>T (p.Asp800Val) c.839A>T (p.Asp280Val) c.830A>T (p.Asp277Val) n.3068A>T | |
| 2 | g.15402201T>C | CA345881931 | NBAS | c.1135A>G n.3051A>G c.3038A>G (p.Asp1013Gly) c.330A>G c.179A>G (p.Asp60Gly) c.181A>G n.3082A>G c.2909A>G (p.Asp970Gly) c.2399A>G (p.Asp800Gly) c.839A>G (p.Asp280Gly) c.830A>G (p.Asp277Gly) n.3068A>G | |
| 2 | g.15402201T>G | CA345881933 | NBAS | c.1135A>C n.3051A>C c.3038A>C (p.Asp1013Ala) c.330A>C c.179A>C (p.Asp60Ala) c.181A>C n.3082A>C c.2909A>C (p.Asp970Ala) c.2399A>C (p.Asp800Ala) c.839A>C (p.Asp280Ala) c.830A>C (p.Asp277Ala) n.3068A>C | |
| 2 | g.15402202C>A | CA345881935 | NBAS | c.1134G>T n.3050G>T c.3037G>T (p.Asp1013Tyr) c.329G>T c.178G>T (p.Asp60Tyr) c.180G>T n.3081G>T c.2908G>T (p.Asp970Tyr) c.2398G>T (p.Asp800Tyr) c.838G>T (p.Asp280Tyr) c.829G>T (p.Asp277Tyr) n.3067G>T | gnomAD v4 |
| 2 | g.15402202C>G | CA345881936 | NBAS | c.1134G>C n.3050G>C c.3037G>C (p.Asp1013His) c.329G>C c.178G>C (p.Asp60His) c.180G>C n.3081G>C c.2908G>C (p.Asp970His) c.2398G>C (p.Asp800His) c.838G>C (p.Asp280His) c.829G>C (p.Asp277His) n.3067G>C | |
| 2 | g.15402202C>T | CA345881938 | NBAS | c.1134G>A n.3050G>A c.3037G>A (p.Asp1013Asn) c.329G>A c.178G>A (p.Asp60Asn) c.180G>A n.3081G>A c.2908G>A (p.Asp970Asn) c.2398G>A (p.Asp800Asn) c.838G>A (p.Asp280Asn) c.829G>A (p.Asp277Asn) n.3067G>A | |
| 2 | g.15402203A>C | CA345881940 | NBAS | c.1133T>G n.3049T>G c.3036T>G (p.Tyr1012Ter) c.328T>G c.177T>G (p.Tyr59Ter) c.179T>G n.3080T>G c.2907T>G (p.Tyr969Ter) c.2397T>G (p.Tyr799Ter) c.837T>G (p.Tyr279Ter) c.828T>G (p.Tyr276Ter) n.3066T>G | |
| 2 | g.15402203A>G | CA424868938 | NBAS | c.1133T>C n.3049T>C c.3036T>C (p.Tyr1012=) c.328T>C c.177T>C (p.Tyr59=) c.179T>C n.3080T>C c.2907T>C (p.Tyr969=) c.2397T>C (p.Tyr799=) c.837T>C (p.Tyr279=) c.828T>C (p.Tyr276=) n.3066T>C | gnomAD v4 |
| 2 | g.15402203A>T | CA345881941 | NBAS | c.1133T>A n.3049T>A c.3036T>A (p.Tyr1012Ter) c.328T>A c.177T>A (p.Tyr59Ter) c.179T>A n.3080T>A c.2907T>A (p.Tyr969Ter) c.2397T>A (p.Tyr799Ter) c.837T>A (p.Tyr279Ter) c.828T>A (p.Tyr276Ter) n.3066T>A | |
| 2 | g.15402204T>A | CA345881944 | NBAS | c.1132A>T n.3048A>T c.3035A>T (p.Tyr1012Phe) c.327A>T c.176A>T (p.Tyr59Phe) c.178A>T n.3079A>T c.2906A>T (p.Tyr969Phe) c.2396A>T (p.Tyr799Phe) c.836A>T (p.Tyr279Phe) c.827A>T (p.Tyr276Phe) n.3065A>T | |
| 2 | g.15402204T>C | CA1536190 | NBAS | c.1132A>G n.3048A>G c.3035A>G (p.Tyr1012Cys) c.327A>G c.176A>G (p.Tyr59Cys) c.178A>G n.3079A>G c.2906A>G (p.Tyr969Cys) c.2396A>G (p.Tyr799Cys) c.836A>G (p.Tyr279Cys) c.827A>G (p.Tyr276Cys) n.3065A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.15402204T>G | CA345881946 | NBAS | c.1132A>C n.3048A>C c.3035A>C (p.Tyr1012Ser) c.327A>C c.176A>C (p.Tyr59Ser) c.178A>C n.3079A>C c.2906A>C (p.Tyr969Ser) c.2396A>C (p.Tyr799Ser) c.836A>C (p.Tyr279Ser) c.827A>C (p.Tyr276Ser) n.3065A>C | |
| 2 | g.15402204T= | CA2490879599 | NBAS | c.1132A= n.3048A= c.3035A= (p.Tyr1012=) c.327A= c.176A= (p.Tyr59=) c.178A= n.3079A= c.2906A= (p.Tyr969=) c.2396A= (p.Tyr799=) c.836A= (p.Tyr279=) c.827A= (p.Tyr276=) n.3065A= | |
| 2 | g.15402205A>C | CA345881948 | NBAS | c.1131T>G n.3047T>G c.3034T>G (p.Tyr1012Asp) c.326T>G c.175T>G (p.Tyr59Asp) c.177T>G n.3078T>G c.2905T>G (p.Tyr969Asp) c.2395T>G (p.Tyr799Asp) c.835T>G (p.Tyr279Asp) c.826T>G (p.Tyr276Asp) n.3064T>G | |
| 2 | g.15402205A>G | CA345881950 | NBAS | c.1131T>C n.3047T>C c.3034T>C (p.Tyr1012His) c.326T>C c.175T>C (p.Tyr59His) c.177T>C n.3078T>C c.2905T>C (p.Tyr969His) c.2395T>C (p.Tyr799His) c.835T>C (p.Tyr279His) c.826T>C (p.Tyr276His) n.3064T>C | COSMIC |
| 2 | g.15402205A>T | CA345881951 | NBAS | c.1131T>A n.3047T>A c.3034T>A (p.Tyr1012Asn) c.326T>A c.175T>A (p.Tyr59Asn) c.177T>A n.3078T>A c.2905T>A (p.Tyr969Asn) c.2395T>A (p.Tyr799Asn) c.835T>A (p.Tyr279Asn) c.826T>A (p.Tyr276Asn) n.3064T>A | |
| 2 | g.15402206G>A | CA424868939 | NBAS | c.1130C>T n.3046C>T c.3033C>T (p.Cys1011=) c.325C>T c.174C>T (p.Cys58=) c.176C>T n.3077C>T c.2904C>T (p.Cys968=) c.2394C>T (p.Cys798=) c.834C>T (p.Cys278=) c.825C>T (p.Cys275=) n.3063C>T | |
| 2 | g.15402206G>C | CA345881953 | NBAS | c.1130C>G n.3046C>G c.3033C>G (p.Cys1011Trp) c.325C>G c.174C>G (p.Cys58Trp) c.176C>G n.3077C>G c.2904C>G (p.Cys968Trp) c.2394C>G (p.Cys798Trp) c.834C>G (p.Cys278Trp) c.825C>G (p.Cys275Trp) n.3063C>G | |
| 2 | g.15402206G>T | CA345881954 | NBAS | c.1130C>A n.3046C>A c.3033C>A (p.Cys1011Ter) c.325C>A c.174C>A (p.Cys58Ter) c.176C>A n.3077C>A c.2904C>A (p.Cys968Ter) c.2394C>A (p.Cys798Ter) c.834C>A (p.Cys278Ter) c.825C>A (p.Cys275Ter) n.3063C>A | |
| 2 | g.15402207C>A | CA345881955 | NBAS | c.1129G>T n.3045G>T c.3032G>T (p.Cys1011Phe) c.324G>T c.173G>T (p.Cys58Phe) c.175G>T n.3076G>T c.2903G>T (p.Cys968Phe) c.2393G>T (p.Cys798Phe) c.833G>T (p.Cys278Phe) c.824G>T (p.Cys275Phe) n.3062G>T | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.15402207C= | CA2490879600 | NBAS | c.1129G= n.3045G= c.3032G= (p.Cys1011=) c.324G= c.173G= (p.Cys58=) c.175G= n.3076G= c.2903G= (p.Cys968=) c.2393G= (p.Cys798=) c.833G= (p.Cys278=) c.824G= (p.Cys275=) n.3062G= | |
| 2 | g.15402207C>G | CA345881957 | NBAS | c.1129G>C n.3045G>C c.3032G>C (p.Cys1011Ser) c.324G>C c.173G>C (p.Cys58Ser) c.175G>C n.3076G>C c.2903G>C (p.Cys968Ser) c.2393G>C (p.Cys798Ser) c.833G>C (p.Cys278Ser) c.824G>C (p.Cys275Ser) n.3062G>C | |
| 2 | g.15402207C>T | CA345881958 | NBAS | c.1129G>A n.3045G>A c.3032G>A (p.Cys1011Tyr) c.324G>A c.173G>A (p.Cys58Tyr) c.175G>A n.3076G>A c.2903G>A (p.Cys968Tyr) c.2393G>A (p.Cys798Tyr) c.833G>A (p.Cys278Tyr) c.824G>A (p.Cys275Tyr) n.3062G>A | |
| 2 | g.15402208A= | CA2490879601 | NBAS | c.1128T= n.3044T= c.3031T= (p.Cys1011=) c.323T= c.172T= (p.Cys58=) c.174T= n.3075T= c.2902T= (p.Cys968=) c.2392T= (p.Cys798=) c.832T= (p.Cys278=) c.823T= (p.Cys275=) n.3061T= |