UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.154585323C>A | CA342635190 | ADAR | c.3231G>T (n.3231G>T) c.3367G>T (p.Asp1123Tyr) c.3220G>T (p.Asp1074Tyr) c.2989G>T (p.Asp997Tyr) c.2452G>T (p.Asp818Tyr) c.3337G>T (p.Asp1113Tyr) n.2130G>T c.3259G>T (p.Asp1087Tyr) n.3322G>T c.*812G>T (n.*812G>T) n.4073G>T c.*503G>T (n.*503G>T) c.*1569G>T (n.*1569G>T) n.4198G>T c.2395G>T (p.Asp799Tyr) c.3154G>T (p.Asp1052Tyr) c.*2859G>T (n.*2859G>T) n.3005G>T c.*2937G>T (n.*2937G>T) n.96G>T c.3244G>T (p.Asp1082Tyr) c.3202G>T (p.Asp1068Tyr) c.3466G>T (p.Asp1156Tyr) c.3388G>T (p.Asp1130Tyr) c.3355G>T (p.Asp1119Tyr) c.3364G>T (p.Asp1122Tyr) c.2374G>T (p.Asp792Tyr) | |
| 1 | g.154585323C= | CA1144233106 | ADAR | c.3231G= (n.3231G=) c.3367G= (p.Asp1123=) c.3220G= (p.Asp1074=) c.2989G= (p.Asp997=) c.2452G= (p.Asp818=) c.3337G= (p.Asp1113=) n.2130G= c.3259G= (p.Asp1087=) n.3322G= c.*812G= (n.*812G=) n.4073G= c.*503G= (n.*503G=) c.*1569G= (n.*1569G=) n.4198G= c.2395G= (p.Asp799=) c.3154G= (p.Asp1052=) c.*2859G= (n.*2859G=) n.3005G= c.*2937G= (n.*2937G=) n.96G= c.3244G= (p.Asp1082=) c.3202G= (p.Asp1068=) c.3466G= (p.Asp1156=) c.3388G= (p.Asp1130=) c.3355G= (p.Asp1119=) c.3364G= (p.Asp1122=) c.2374G= (p.Asp792=) | |
| 1 | g.154585323C>G | CA343777 | ADAR | c.3231G>C (n.3231G>C) c.3367G>C (p.Asp1123His) c.3220G>C (p.Asp1074His) c.2989G>C (p.Asp997His) c.2452G>C (p.Asp818His) c.3337G>C (p.Asp1113His) n.2130G>C c.3259G>C (p.Asp1087His) n.3322G>C c.*812G>C (n.*812G>C) n.4073G>C c.*503G>C (n.*503G>C) c.*1569G>C (n.*1569G>C) n.4198G>C c.2395G>C (p.Asp799His) c.3154G>C (p.Asp1052His) c.*2859G>C (n.*2859G>C) n.3005G>C c.*2937G>C (n.*2937G>C) n.96G>C c.3244G>C (p.Asp1082His) c.3202G>C (p.Asp1068His) c.3466G>C (p.Asp1156His) c.3388G>C (p.Asp1130His) c.3355G>C (p.Asp1119His) c.3364G>C (p.Asp1122His) c.2374G>C (p.Asp792His) | ClinVar dbSNP |
| 1 | g.154585323C>T | CA342635191 | ADAR | c.3231G>A (n.3231G>A) c.3367G>A (p.Asp1123Asn) c.3220G>A (p.Asp1074Asn) c.2989G>A (p.Asp997Asn) c.2452G>A (p.Asp818Asn) c.3337G>A (p.Asp1113Asn) n.2130G>A c.3259G>A (p.Asp1087Asn) n.3322G>A c.*812G>A (n.*812G>A) n.4073G>A c.*503G>A (n.*503G>A) c.*1569G>A (n.*1569G>A) n.4198G>A c.2395G>A (p.Asp799Asn) c.3154G>A (p.Asp1052Asn) c.*2859G>A (n.*2859G>A) n.3005G>A c.*2937G>A (n.*2937G>A) n.96G>A c.3244G>A (p.Asp1082Asn) c.3202G>A (p.Asp1068Asn) c.3466G>A (p.Asp1156Asn) c.3388G>A (p.Asp1130Asn) c.3355G>A (p.Asp1119Asn) c.3364G>A (p.Asp1122Asn) c.2374G>A (p.Asp792Asn) | COSMIC COSMIC |
| 1 | g.154585324A>C | CA342635193 | ADAR | c.3230T>G (n.3230T>G) c.3366T>G (p.Tyr1122Ter) c.3219T>G (p.Tyr1073Ter) c.2988T>G (p.Tyr996Ter) c.2451T>G (p.Tyr817Ter) c.3336T>G (p.Tyr1112Ter) n.2129T>G c.3258T>G (p.Tyr1086Ter) n.3321T>G c.*811T>G (n.*811T>G) n.4072T>G c.*502T>G (n.*502T>G) c.*1568T>G (n.*1568T>G) n.4197T>G c.2394T>G (p.Tyr798Ter) c.3153T>G (p.Tyr1051Ter) c.*2858T>G (n.*2858T>G) n.3004T>G c.*2936T>G (n.*2936T>G) n.95T>G c.3243T>G (p.Tyr1081Ter) c.3201T>G (p.Tyr1067Ter) c.3465T>G (p.Tyr1155Ter) c.3387T>G (p.Tyr1129Ter) c.3354T>G (p.Tyr1118Ter) c.3363T>G (p.Tyr1121Ter) c.2373T>G (p.Tyr791Ter) | |
| 1 | g.154585324A>G | CA420974565 | ADAR | c.3230T>C (n.3230T>C) c.3366T>C (p.Tyr1122=) c.3219T>C (p.Tyr1073=) c.2988T>C (p.Tyr996=) c.2451T>C (p.Tyr817=) c.3336T>C (p.Tyr1112=) n.2129T>C c.3258T>C (p.Tyr1086=) n.3321T>C c.*811T>C (n.*811T>C) n.4072T>C c.*502T>C (n.*502T>C) c.*1568T>C (n.*1568T>C) n.4197T>C c.2394T>C (p.Tyr798=) c.3153T>C (p.Tyr1051=) c.*2858T>C (n.*2858T>C) n.3004T>C c.*2936T>C (n.*2936T>C) n.95T>C c.3243T>C (p.Tyr1081=) c.3201T>C (p.Tyr1067=) c.3465T>C (p.Tyr1155=) c.3387T>C (p.Tyr1129=) c.3354T>C (p.Tyr1118=) c.3363T>C (p.Tyr1121=) c.2373T>C (p.Tyr791=) | |
| 1 | g.154585324A>T | CA342635192 | ADAR | c.3230T>A (n.3230T>A) c.3366T>A (p.Tyr1122Ter) c.3219T>A (p.Tyr1073Ter) c.2988T>A (p.Tyr996Ter) c.2451T>A (p.Tyr817Ter) c.3336T>A (p.Tyr1112Ter) n.2129T>A c.3258T>A (p.Tyr1086Ter) n.3321T>A c.*811T>A (n.*811T>A) n.4072T>A c.*502T>A (n.*502T>A) c.*1568T>A (n.*1568T>A) n.4197T>A c.2394T>A (p.Tyr798Ter) c.3153T>A (p.Tyr1051Ter) c.*2858T>A (n.*2858T>A) n.3004T>A c.*2936T>A (n.*2936T>A) n.95T>A c.3243T>A (p.Tyr1081Ter) c.3201T>A (p.Tyr1067Ter) c.3465T>A (p.Tyr1155Ter) c.3387T>A (p.Tyr1129Ter) c.3354T>A (p.Tyr1118Ter) c.3363T>A (p.Tyr1121Ter) c.2373T>A (p.Tyr791Ter) | |
| 1 | g.154585328_154585329del | CA2586967341 | ADAR | c.3229_3230del (n.3229_3230del) c.3365_3366del (p.Tyr1122Ter) c.3218_3219del (p.Tyr1073Ter) c.2987_2988del (p.Tyr996Ter) c.2450_2451del (p.Tyr817Ter) c.3335_3336del (p.Tyr1112Ter) n.2128_2129del c.3257_3258del (p.Tyr1086Ter) n.3320_3321del c.*810_*811del (n.*810_*811del) n.4071_4072del c.*501_*502del (n.*501_*502del) c.*1567_*1568del (n.*1567_*1568del) n.4196_4197del c.2393_2394del (p.Tyr798Ter) c.3152_3153del (p.Tyr1051Ter) c.*2857_*2858del (n.*2857_*2858del) n.3003_3004del c.*2935_*2936del (n.*2935_*2936del) n.94_95del c.3242_3243del (p.Tyr1081Ter) c.3200_3201del (p.Tyr1067Ter) c.3464_3465del (p.Tyr1155Ter) c.3386_3387del (p.Tyr1129Ter) c.3353_3354del (p.Tyr1118Ter) c.3362_3363del (p.Tyr1121Ter) c.2372_2373del (p.Tyr791Ter) | |
| 1 | g.154585325T>A | CA343779 | ADAR | c.3229A>T (n.3229A>T) c.3365A>T (p.Tyr1122Phe) c.3218A>T (p.Tyr1073Phe) c.2987A>T (p.Tyr996Phe) c.2450A>T (p.Tyr817Phe) c.3335A>T (p.Tyr1112Phe) n.2128A>T c.3257A>T (p.Tyr1086Phe) n.3320A>T c.*810A>T (n.*810A>T) n.4071A>T c.*501A>T (n.*501A>T) c.*1567A>T (n.*1567A>T) n.4196A>T c.2393A>T (p.Tyr798Phe) c.3152A>T (p.Tyr1051Phe) c.*2857A>T (n.*2857A>T) n.3003A>T c.*2935A>T (n.*2935A>T) n.94A>T c.3242A>T (p.Tyr1081Phe) c.3200A>T (p.Tyr1067Phe) c.3464A>T (p.Tyr1155Phe) c.3386A>T (p.Tyr1129Phe) c.3353A>T (p.Tyr1118Phe) c.3362A>T (p.Tyr1121Phe) c.2372A>T (p.Tyr791Phe) | ClinVar dbSNP |
| 1 | g.154585325T>C | CA342635195 | ADAR | c.3229A>G (n.3229A>G) c.3365A>G (p.Tyr1122Cys) c.3218A>G (p.Tyr1073Cys) c.2987A>G (p.Tyr996Cys) c.2450A>G (p.Tyr817Cys) c.3335A>G (p.Tyr1112Cys) n.2128A>G c.3257A>G (p.Tyr1086Cys) n.3320A>G c.*810A>G (n.*810A>G) n.4071A>G c.*501A>G (n.*501A>G) c.*1567A>G (n.*1567A>G) n.4196A>G c.2393A>G (p.Tyr798Cys) c.3152A>G (p.Tyr1051Cys) c.*2857A>G (n.*2857A>G) n.3003A>G c.*2935A>G (n.*2935A>G) n.94A>G c.3242A>G (p.Tyr1081Cys) c.3200A>G (p.Tyr1067Cys) c.3464A>G (p.Tyr1155Cys) c.3386A>G (p.Tyr1129Cys) c.3353A>G (p.Tyr1118Cys) c.3362A>G (p.Tyr1121Cys) c.2372A>G (p.Tyr791Cys) | |
| 1 | g.154585325T>G | CA342635194 | ADAR | c.3229A>C (n.3229A>C) c.3365A>C (p.Tyr1122Ser) c.3218A>C (p.Tyr1073Ser) c.2987A>C (p.Tyr996Ser) c.2450A>C (p.Tyr817Ser) c.3335A>C (p.Tyr1112Ser) n.2128A>C c.3257A>C (p.Tyr1086Ser) n.3320A>C c.*810A>C (n.*810A>C) n.4071A>C c.*501A>C (n.*501A>C) c.*1567A>C (n.*1567A>C) n.4196A>C c.2393A>C (p.Tyr798Ser) c.3152A>C (p.Tyr1051Ser) c.*2857A>C (n.*2857A>C) n.3003A>C c.*2935A>C (n.*2935A>C) n.94A>C c.3242A>C (p.Tyr1081Ser) c.3200A>C (p.Tyr1067Ser) c.3464A>C (p.Tyr1155Ser) c.3386A>C (p.Tyr1129Ser) c.3353A>C (p.Tyr1118Ser) c.3362A>C (p.Tyr1121Ser) c.2372A>C (p.Tyr791Ser) | |
| 1 | g.154585325T= | CA1144233107 | ADAR | c.3229A= (n.3229A=) c.3365A= (p.Tyr1122=) c.3218A= (p.Tyr1073=) c.2987A= (p.Tyr996=) c.2450A= (p.Tyr817=) c.3335A= (p.Tyr1112=) n.2128A= c.3257A= (p.Tyr1086=) n.3320A= c.*810A= (n.*810A=) n.4071A= c.*501A= (n.*501A=) c.*1567A= (n.*1567A=) n.4196A= c.2393A= (p.Tyr798=) c.3152A= (p.Tyr1051=) c.*2857A= (n.*2857A=) n.3003A= c.*2935A= (n.*2935A=) n.94A= c.3242A= (p.Tyr1081=) c.3200A= (p.Tyr1067=) c.3464A= (p.Tyr1155=) c.3386A= (p.Tyr1129=) c.3353A= (p.Tyr1118=) c.3362A= (p.Tyr1121=) c.2372A= (p.Tyr791=) | |
| 1 | g.154585326A>C | CA342635196 | ADAR | c.3228T>G (n.3228T>G) c.3364T>G (p.Tyr1122Asp) c.3217T>G (p.Tyr1073Asp) c.2986T>G (p.Tyr996Asp) c.2449T>G (p.Tyr817Asp) c.3334T>G (p.Tyr1112Asp) n.2127T>G c.3256T>G (p.Tyr1086Asp) n.3319T>G c.*809T>G (n.*809T>G) n.4070T>G c.*500T>G (n.*500T>G) c.*1566T>G (n.*1566T>G) n.4195T>G c.2392T>G (p.Tyr798Asp) c.3151T>G (p.Tyr1051Asp) c.*2856T>G (n.*2856T>G) n.3002T>G c.*2934T>G (n.*2934T>G) n.93T>G c.3241T>G (p.Tyr1081Asp) c.3199T>G (p.Tyr1067Asp) c.3463T>G (p.Tyr1155Asp) c.3385T>G (p.Tyr1129Asp) c.3352T>G (p.Tyr1118Asp) c.3361T>G (p.Tyr1121Asp) c.2371T>G (p.Tyr791Asp) | |
| 1 | g.154585326A>G | CA342635198 | ADAR | c.3228T>C (n.3228T>C) c.3364T>C (p.Tyr1122His) c.3217T>C (p.Tyr1073His) c.2986T>C (p.Tyr996His) c.2449T>C (p.Tyr817His) c.3334T>C (p.Tyr1112His) n.2127T>C c.3256T>C (p.Tyr1086His) n.3319T>C c.*809T>C (n.*809T>C) n.4070T>C c.*500T>C (n.*500T>C) c.*1566T>C (n.*1566T>C) n.4195T>C c.2392T>C (p.Tyr798His) c.3151T>C (p.Tyr1051His) c.*2856T>C (n.*2856T>C) n.3002T>C c.*2934T>C (n.*2934T>C) n.93T>C c.3241T>C (p.Tyr1081His) c.3199T>C (p.Tyr1067His) c.3463T>C (p.Tyr1155His) c.3385T>C (p.Tyr1129His) c.3352T>C (p.Tyr1118His) c.3361T>C (p.Tyr1121His) c.2371T>C (p.Tyr791His) | ClinVar gnomAD v4 |
| 1 | g.154585326A>T | CA342635197 | ADAR | c.3228T>A (n.3228T>A) c.3364T>A (p.Tyr1122Asn) c.3217T>A (p.Tyr1073Asn) c.2986T>A (p.Tyr996Asn) c.2449T>A (p.Tyr817Asn) c.3334T>A (p.Tyr1112Asn) n.2127T>A c.3256T>A (p.Tyr1086Asn) n.3319T>A c.*809T>A (n.*809T>A) n.4070T>A c.*500T>A (n.*500T>A) c.*1566T>A (n.*1566T>A) n.4195T>A c.2392T>A (p.Tyr798Asn) c.3151T>A (p.Tyr1051Asn) c.*2856T>A (n.*2856T>A) n.3002T>A c.*2934T>A (n.*2934T>A) n.93T>A c.3241T>A (p.Tyr1081Asn) c.3199T>A (p.Tyr1067Asn) c.3463T>A (p.Tyr1155Asn) c.3385T>A (p.Tyr1129Asn) c.3352T>A (p.Tyr1118Asn) c.3361T>A (p.Tyr1121Asn) c.2371T>A (p.Tyr791Asn) | |
| 1 | g.154585327T>A | CA420974566 | ADAR | c.3227A>T (n.3227A>T) c.3363A>T (p.Ile1121=) c.3216A>T (p.Ile1072=) c.2985A>T (p.Ile995=) c.2448A>T (p.Ile816=) c.3333A>T (p.Ile1111=) n.2126A>T c.3255A>T (p.Ile1085=) n.3318A>T c.*808A>T (n.*808A>T) n.4069A>T c.*499A>T (n.*499A>T) c.*1565A>T (n.*1565A>T) n.4194A>T c.2391A>T (p.Ile797=) c.3150A>T (p.Ile1050=) c.*2855A>T (n.*2855A>T) n.3001A>T c.*2933A>T (n.*2933A>T) n.92A>T c.3240A>T (p.Ile1080=) c.3198A>T (p.Ile1066=) c.3462A>T (p.Ile1154=) c.3384A>T (p.Ile1128=) c.3351A>T (p.Ile1117=) c.3360A>T (p.Ile1120=) c.2370A>T (p.Ile790=) | |
| 1 | g.154585327T>C | CA342635199 | ADAR | c.3227A>G (n.3227A>G) c.3363A>G (p.Ile1121Met) c.3216A>G (p.Ile1072Met) c.2985A>G (p.Ile995Met) c.2448A>G (p.Ile816Met) c.3333A>G (p.Ile1111Met) n.2126A>G c.3255A>G (p.Ile1085Met) n.3318A>G c.*808A>G (n.*808A>G) n.4069A>G c.*499A>G (n.*499A>G) c.*1565A>G (n.*1565A>G) n.4194A>G c.2391A>G (p.Ile797Met) c.3150A>G (p.Ile1050Met) c.*2855A>G (n.*2855A>G) n.3001A>G c.*2933A>G (n.*2933A>G) n.92A>G c.3240A>G (p.Ile1080Met) c.3198A>G (p.Ile1066Met) c.3462A>G (p.Ile1154Met) c.3384A>G (p.Ile1128Met) c.3351A>G (p.Ile1117Met) c.3360A>G (p.Ile1120Met) c.2370A>G (p.Ile790Met) | gnomAD v4 |
| 1 | g.154585327T>G | CA420974568 | ADAR | c.3227A>C (n.3227A>C) c.3363A>C (p.Ile1121=) c.3216A>C (p.Ile1072=) c.2985A>C (p.Ile995=) c.2448A>C (p.Ile816=) c.3333A>C (p.Ile1111=) n.2126A>C c.3255A>C (p.Ile1085=) n.3318A>C c.*808A>C (n.*808A>C) n.4069A>C c.*499A>C (n.*499A>C) c.*1565A>C (n.*1565A>C) n.4194A>C c.2391A>C (p.Ile797=) c.3150A>C (p.Ile1050=) c.*2855A>C (n.*2855A>C) n.3001A>C c.*2933A>C (n.*2933A>C) n.92A>C c.3240A>C (p.Ile1080=) c.3198A>C (p.Ile1066=) c.3462A>C (p.Ile1154=) c.3384A>C (p.Ile1128=) c.3351A>C (p.Ile1117=) c.3360A>C (p.Ile1120=) c.2370A>C (p.Ile790=) | |
| 1 | g.154585328A>C | CA342635200 | ADAR | c.3226T>G (n.3226T>G) c.3362T>G (p.Ile1121Arg) c.3215T>G (p.Ile1072Arg) c.2984T>G (p.Ile995Arg) c.2447T>G (p.Ile816Arg) c.3332T>G (p.Ile1111Arg) n.2125T>G c.3254T>G (p.Ile1085Arg) n.3317T>G c.*807T>G (n.*807T>G) n.4068T>G c.*498T>G (n.*498T>G) c.*1564T>G (n.*1564T>G) n.4193T>G c.2390T>G (p.Ile797Arg) c.3149T>G (p.Ile1050Arg) c.*2854T>G (n.*2854T>G) n.3000T>G c.*2932T>G (n.*2932T>G) n.91T>G c.3239T>G (p.Ile1080Arg) c.3197T>G (p.Ile1066Arg) c.3461T>G (p.Ile1154Arg) c.3383T>G (p.Ile1128Arg) c.3350T>G (p.Ile1117Arg) c.3359T>G (p.Ile1120Arg) c.2369T>G (p.Ile790Arg) | |
| 1 | g.154585328A>G | CA342635201 | ADAR | c.3226T>C (n.3226T>C) c.3362T>C (p.Ile1121Thr) c.3215T>C (p.Ile1072Thr) c.2984T>C (p.Ile995Thr) c.2447T>C (p.Ile816Thr) c.3332T>C (p.Ile1111Thr) n.2125T>C c.3254T>C (p.Ile1085Thr) n.3317T>C c.*807T>C (n.*807T>C) n.4068T>C c.*498T>C (n.*498T>C) c.*1564T>C (n.*1564T>C) n.4193T>C c.2390T>C (p.Ile797Thr) c.3149T>C (p.Ile1050Thr) c.*2854T>C (n.*2854T>C) n.3000T>C c.*2932T>C (n.*2932T>C) n.91T>C c.3239T>C (p.Ile1080Thr) c.3197T>C (p.Ile1066Thr) c.3461T>C (p.Ile1154Thr) c.3383T>C (p.Ile1128Thr) c.3350T>C (p.Ile1117Thr) c.3359T>C (p.Ile1120Thr) c.2369T>C (p.Ile790Thr) | |
| 1 | g.154585328A>T | CA342635202 | ADAR | c.3226T>A (n.3226T>A) c.3362T>A (p.Ile1121Lys) c.3215T>A (p.Ile1072Lys) c.2984T>A (p.Ile995Lys) c.2447T>A (p.Ile816Lys) c.3332T>A (p.Ile1111Lys) n.2125T>A c.3254T>A (p.Ile1085Lys) n.3317T>A c.*807T>A (n.*807T>A) n.4068T>A c.*498T>A (n.*498T>A) c.*1564T>A (n.*1564T>A) n.4193T>A c.2390T>A (p.Ile797Lys) c.3149T>A (p.Ile1050Lys) c.*2854T>A (n.*2854T>A) n.3000T>A c.*2932T>A (n.*2932T>A) n.91T>A c.3239T>A (p.Ile1080Lys) c.3197T>A (p.Ile1066Lys) c.3461T>A (p.Ile1154Lys) c.3383T>A (p.Ile1128Lys) c.3350T>A (p.Ile1117Lys) c.3359T>A (p.Ile1120Lys) c.2369T>A (p.Ile790Lys) | |
| 1 | g.154585329T>A | CA342635203 | ADAR | c.3225A>T (n.3225A>T) c.3361A>T (p.Ile1121Leu) c.3214A>T (p.Ile1072Leu) c.2983A>T (p.Ile995Leu) c.2446A>T (p.Ile816Leu) c.3331A>T (p.Ile1111Leu) n.2124A>T c.3253A>T (p.Ile1085Leu) n.3316A>T c.*806A>T (n.*806A>T) n.4067A>T c.*497A>T (n.*497A>T) c.*1563A>T (n.*1563A>T) n.4192A>T c.2389A>T (p.Ile797Leu) c.3148A>T (p.Ile1050Leu) c.*2853A>T (n.*2853A>T) n.2999A>T c.*2931A>T (n.*2931A>T) n.90A>T c.3238A>T (p.Ile1080Leu) c.3196A>T (p.Ile1066Leu) c.3460A>T (p.Ile1154Leu) c.3382A>T (p.Ile1128Leu) c.3349A>T (p.Ile1117Leu) c.3358A>T (p.Ile1120Leu) c.2368A>T (p.Ile790Leu) | |
| 1 | g.154585329T>C | CA30848900 | ADAR | c.3225A>G (n.3225A>G) c.3361A>G (p.Ile1121Val) c.3214A>G (p.Ile1072Val) c.2983A>G (p.Ile995Val) c.2446A>G (p.Ile816Val) c.3331A>G (p.Ile1111Val) n.2124A>G c.3253A>G (p.Ile1085Val) n.3316A>G c.*806A>G (n.*806A>G) n.4067A>G c.*497A>G (n.*497A>G) c.*1563A>G (n.*1563A>G) n.4192A>G c.2389A>G (p.Ile797Val) c.3148A>G (p.Ile1050Val) c.*2853A>G (n.*2853A>G) n.2999A>G c.*2931A>G (n.*2931A>G) n.90A>G c.3238A>G (p.Ile1080Val) c.3196A>G (p.Ile1066Val) c.3460A>G (p.Ile1154Val) c.3382A>G (p.Ile1128Val) c.3349A>G (p.Ile1117Val) c.3358A>G (p.Ile1120Val) c.2368A>G (p.Ile790Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.154585329T>G | CA342635204 | ADAR | c.3225A>C (n.3225A>C) c.3361A>C (p.Ile1121Leu) c.3214A>C (p.Ile1072Leu) c.2983A>C (p.Ile995Leu) c.2446A>C (p.Ile816Leu) c.3331A>C (p.Ile1111Leu) n.2124A>C c.3253A>C (p.Ile1085Leu) n.3316A>C c.*806A>C (n.*806A>C) n.4067A>C c.*497A>C (n.*497A>C) c.*1563A>C (n.*1563A>C) n.4192A>C c.2389A>C (p.Ile797Leu) c.3148A>C (p.Ile1050Leu) c.*2853A>C (n.*2853A>C) n.2999A>C c.*2931A>C (n.*2931A>C) n.90A>C c.3238A>C (p.Ile1080Leu) c.3196A>C (p.Ile1066Leu) c.3460A>C (p.Ile1154Leu) c.3382A>C (p.Ile1128Leu) c.3349A>C (p.Ile1117Leu) c.3358A>C (p.Ile1120Leu) c.2368A>C (p.Ile790Leu) | COSMIC COSMIC |
| 1 | g.154585329T= | CA1144909129 | ADAR | c.3225A= (n.3225A=) c.3361A= (p.Ile1121=) c.3214A= (p.Ile1072=) c.2983A= (p.Ile995=) c.2446A= (p.Ile816=) c.3331A= (p.Ile1111=) n.2124A= c.3253A= (p.Ile1085=) n.3316A= c.*806A= (n.*806A=) n.4067A= c.*497A= (n.*497A=) c.*1563A= (n.*1563A=) n.4192A= c.2389A= (p.Ile797=) c.3148A= (p.Ile1050=) c.*2853A= (n.*2853A=) n.2999A= c.*2931A= (n.*2931A=) n.90A= c.3238A= (p.Ile1080=) c.3196A= (p.Ile1066=) c.3460A= (p.Ile1154=) c.3382A= (p.Ile1128=) c.3349A= (p.Ile1117=) c.3358A= (p.Ile1120=) c.2368A= (p.Ile790=) | |
| 1 | g.154585330G>A | CA420974570 | ADAR | c.3224C>T (n.3224C>T) c.3360C>T (p.Ser1120=) c.3213C>T (p.Ser1071=) c.2982C>T (p.Ser994=) c.2445C>T (p.Ser815=) c.3330C>T (p.Ser1110=) n.2123C>T c.3252C>T (p.Ser1084=) n.3315C>T c.*805C>T (n.*805C>T) n.4066C>T c.*496C>T (n.*496C>T) c.*1562C>T (n.*1562C>T) n.4191C>T c.2388C>T (p.Ser796=) c.3147C>T (p.Ser1049=) c.*2852C>T (n.*2852C>T) n.2998C>T c.*2930C>T (n.*2930C>T) n.89C>T c.3237C>T (p.Ser1079=) c.3195C>T (p.Ser1065=) c.3459C>T (p.Ser1153=) c.3381C>T (p.Ser1127=) c.3348C>T (p.Ser1116=) c.3357C>T (p.Ser1119=) c.2367C>T (p.Ser789=) | |
| 1 | g.154585330G>C | CA342635205 | ADAR | c.3224C>G (n.3224C>G) c.3360C>G (p.Ser1120Arg) c.3213C>G (p.Ser1071Arg) c.2982C>G (p.Ser994Arg) c.2445C>G (p.Ser815Arg) c.3330C>G (p.Ser1110Arg) n.2123C>G c.3252C>G (p.Ser1084Arg) n.3315C>G c.*805C>G (n.*805C>G) n.4066C>G c.*496C>G (n.*496C>G) c.*1562C>G (n.*1562C>G) n.4191C>G c.2388C>G (p.Ser796Arg) c.3147C>G (p.Ser1049Arg) c.*2852C>G (n.*2852C>G) n.2998C>G c.*2930C>G (n.*2930C>G) n.89C>G c.3237C>G (p.Ser1079Arg) c.3195C>G (p.Ser1065Arg) c.3459C>G (p.Ser1153Arg) c.3381C>G (p.Ser1127Arg) c.3348C>G (p.Ser1116Arg) c.3357C>G (p.Ser1119Arg) c.2367C>G (p.Ser789Arg) | |
| 1 | g.154585330G>T | CA342635206 | ADAR | c.3224C>A (n.3224C>A) c.3360C>A (p.Ser1120Arg) c.3213C>A (p.Ser1071Arg) c.2982C>A (p.Ser994Arg) c.2445C>A (p.Ser815Arg) c.3330C>A (p.Ser1110Arg) n.2123C>A c.3252C>A (p.Ser1084Arg) n.3315C>A c.*805C>A (n.*805C>A) n.4066C>A c.*496C>A (n.*496C>A) c.*1562C>A (n.*1562C>A) n.4191C>A c.2388C>A (p.Ser796Arg) c.3147C>A (p.Ser1049Arg) c.*2852C>A (n.*2852C>A) n.2998C>A c.*2930C>A (n.*2930C>A) n.89C>A c.3237C>A (p.Ser1079Arg) c.3195C>A (p.Ser1065Arg) c.3459C>A (p.Ser1153Arg) c.3381C>A (p.Ser1127Arg) c.3348C>A (p.Ser1116Arg) c.3357C>A (p.Ser1119Arg) c.2367C>A (p.Ser789Arg) | |
| 1 | g.154585331C>A | CA342635207 | ADAR | c.3223G>T (n.3223G>T) c.3359G>T (p.Ser1120Ile) c.3212G>T (p.Ser1071Ile) c.2981G>T (p.Ser994Ile) c.2444G>T (p.Ser815Ile) c.3329G>T (p.Ser1110Ile) n.2122G>T c.3251G>T (p.Ser1084Ile) n.3314G>T c.*804G>T (n.*804G>T) n.4065G>T c.*495G>T (n.*495G>T) c.*1561G>T (n.*1561G>T) n.4190G>T c.2387G>T (p.Ser796Ile) c.3146G>T (p.Ser1049Ile) c.*2851G>T (n.*2851G>T) n.2997G>T c.*2929G>T (n.*2929G>T) n.88G>T c.3236G>T (p.Ser1079Ile) c.3194G>T (p.Ser1065Ile) c.3458G>T (p.Ser1153Ile) c.3380G>T (p.Ser1127Ile) c.3347G>T (p.Ser1116Ile) c.3356G>T (p.Ser1119Ile) c.2366G>T (p.Ser789Ile) | |
| 1 | g.154585331C>G | CA342635208 | ADAR | c.3223G>C (n.3223G>C) c.3359G>C (p.Ser1120Thr) c.3212G>C (p.Ser1071Thr) c.2981G>C (p.Ser994Thr) c.2444G>C (p.Ser815Thr) c.3329G>C (p.Ser1110Thr) n.2122G>C c.3251G>C (p.Ser1084Thr) n.3314G>C c.*804G>C (n.*804G>C) n.4065G>C c.*495G>C (n.*495G>C) c.*1561G>C (n.*1561G>C) n.4190G>C c.2387G>C (p.Ser796Thr) c.3146G>C (p.Ser1049Thr) c.*2851G>C (n.*2851G>C) n.2997G>C c.*2929G>C (n.*2929G>C) n.88G>C c.3236G>C (p.Ser1079Thr) c.3194G>C (p.Ser1065Thr) c.3458G>C (p.Ser1153Thr) c.3380G>C (p.Ser1127Thr) c.3347G>C (p.Ser1116Thr) c.3356G>C (p.Ser1119Thr) c.2366G>C (p.Ser789Thr) | |
| 1 | g.154585331C>T | CA342635209 | ADAR | c.3223G>A (n.3223G>A) c.3359G>A (p.Ser1120Asn) c.3212G>A (p.Ser1071Asn) c.2981G>A (p.Ser994Asn) c.2444G>A (p.Ser815Asn) c.3329G>A (p.Ser1110Asn) n.2122G>A c.3251G>A (p.Ser1084Asn) n.3314G>A c.*804G>A (n.*804G>A) n.4065G>A c.*495G>A (n.*495G>A) c.*1561G>A (n.*1561G>A) n.4190G>A c.2387G>A (p.Ser796Asn) c.3146G>A (p.Ser1049Asn) c.*2851G>A (n.*2851G>A) n.2997G>A c.*2929G>A (n.*2929G>A) n.88G>A c.3236G>A (p.Ser1079Asn) c.3194G>A (p.Ser1065Asn) c.3458G>A (p.Ser1153Asn) c.3380G>A (p.Ser1127Asn) c.3347G>A (p.Ser1116Asn) c.3356G>A (p.Ser1119Asn) c.2366G>A (p.Ser789Asn) | |
| 1 | g.154585332T>A | CA342635212 | ADAR | c.3222A>T (n.3222A>T) c.3358A>T (p.Ser1120Cys) c.3211A>T (p.Ser1071Cys) c.2980A>T (p.Ser994Cys) c.2443A>T (p.Ser815Cys) c.3328A>T (p.Ser1110Cys) n.2121A>T c.3250A>T (p.Ser1084Cys) n.3313A>T c.*803A>T (n.*803A>T) n.4064A>T c.*494A>T (n.*494A>T) c.*1560A>T (n.*1560A>T) n.4189A>T c.2386A>T (p.Ser796Cys) c.3145A>T (p.Ser1049Cys) c.*2850A>T (n.*2850A>T) n.2996A>T c.*2928A>T (n.*2928A>T) n.87A>T c.3235A>T (p.Ser1079Cys) c.3193A>T (p.Ser1065Cys) c.3457A>T (p.Ser1153Cys) c.3379A>T (p.Ser1127Cys) c.3346A>T (p.Ser1116Cys) c.3355A>T (p.Ser1119Cys) c.2365A>T (p.Ser789Cys) | |
| 1 | g.154585332T>C | CA342635210 | ADAR | c.3222A>G (n.3222A>G) c.3358A>G (p.Ser1120Gly) c.3211A>G (p.Ser1071Gly) c.2980A>G (p.Ser994Gly) c.2443A>G (p.Ser815Gly) c.3328A>G (p.Ser1110Gly) n.2121A>G c.3250A>G (p.Ser1084Gly) n.3313A>G c.*803A>G (n.*803A>G) n.4064A>G c.*494A>G (n.*494A>G) c.*1560A>G (n.*1560A>G) n.4189A>G c.2386A>G (p.Ser796Gly) c.3145A>G (p.Ser1049Gly) c.*2850A>G (n.*2850A>G) n.2996A>G c.*2928A>G (n.*2928A>G) n.87A>G c.3235A>G (p.Ser1079Gly) c.3193A>G (p.Ser1065Gly) c.3457A>G (p.Ser1153Gly) c.3379A>G (p.Ser1127Gly) c.3346A>G (p.Ser1116Gly) c.3355A>G (p.Ser1119Gly) c.2365A>G (p.Ser789Gly) | |
| 1 | g.154585332T>G | CA342635211 | ADAR | c.3222A>C (n.3222A>C) c.3358A>C (p.Ser1120Arg) c.3211A>C (p.Ser1071Arg) c.2980A>C (p.Ser994Arg) c.2443A>C (p.Ser815Arg) c.3328A>C (p.Ser1110Arg) n.2121A>C c.3250A>C (p.Ser1084Arg) n.3313A>C c.*803A>C (n.*803A>C) n.4064A>C c.*494A>C (n.*494A>C) c.*1560A>C (n.*1560A>C) n.4189A>C c.2386A>C (p.Ser796Arg) c.3145A>C (p.Ser1049Arg) c.*2850A>C (n.*2850A>C) n.2996A>C c.*2928A>C (n.*2928A>C) n.87A>C c.3235A>C (p.Ser1079Arg) c.3193A>C (p.Ser1065Arg) c.3457A>C (p.Ser1153Arg) c.3379A>C (p.Ser1127Arg) c.3346A>C (p.Ser1116Arg) c.3355A>C (p.Ser1119Arg) c.2365A>C (p.Ser789Arg) | |
| 1 | g.154585333G>A | CA420974571 | ADAR | c.3221C>T (n.3221C>T) c.3357C>T (p.Val1119=) c.3210C>T (p.Val1070=) c.2979C>T (p.Val993=) c.2442C>T (p.Val814=) c.3327C>T (p.Val1109=) n.2120C>T c.3249C>T (p.Val1083=) n.3312C>T c.*802C>T (n.*802C>T) n.4063C>T c.*493C>T (n.*493C>T) c.*1559C>T (n.*1559C>T) n.4188C>T c.2385C>T (p.Val795=) c.3144C>T (p.Val1048=) c.*2849C>T (n.*2849C>T) n.2995C>T c.*2927C>T (n.*2927C>T) n.86C>T c.3234C>T (p.Val1078=) c.3192C>T (p.Val1064=) c.3456C>T (p.Val1152=) c.3378C>T (p.Val1126=) c.3345C>T (p.Val1115=) c.3354C>T (p.Val1118=) c.2364C>T (p.Val788=) | |
| 1 | g.154585333G>C | CA420974572 | ADAR | c.3221C>G (n.3221C>G) c.3357C>G (p.Val1119=) c.3210C>G (p.Val1070=) c.2979C>G (p.Val993=) c.2442C>G (p.Val814=) c.3327C>G (p.Val1109=) n.2120C>G c.3249C>G (p.Val1083=) n.3312C>G c.*802C>G (n.*802C>G) n.4063C>G c.*493C>G (n.*493C>G) c.*1559C>G (n.*1559C>G) n.4188C>G c.2385C>G (p.Val795=) c.3144C>G (p.Val1048=) c.*2849C>G (n.*2849C>G) n.2995C>G c.*2927C>G (n.*2927C>G) n.86C>G c.3234C>G (p.Val1078=) c.3192C>G (p.Val1064=) c.3456C>G (p.Val1152=) c.3378C>G (p.Val1126=) c.3345C>G (p.Val1115=) c.3354C>G (p.Val1118=) c.2364C>G (p.Val788=) | |
| 1 | g.154585333G>T | CA420974574 | ADAR | c.3221C>A (n.3221C>A) c.3357C>A (p.Val1119=) c.3210C>A (p.Val1070=) c.2979C>A (p.Val993=) c.2442C>A (p.Val814=) c.3327C>A (p.Val1109=) n.2120C>A c.3249C>A (p.Val1083=) n.3312C>A c.*802C>A (n.*802C>A) n.4063C>A c.*493C>A (n.*493C>A) c.*1559C>A (n.*1559C>A) n.4188C>A c.2385C>A (p.Val795=) c.3144C>A (p.Val1048=) c.*2849C>A (n.*2849C>A) n.2995C>A c.*2927C>A (n.*2927C>A) n.86C>A c.3234C>A (p.Val1078=) c.3192C>A (p.Val1064=) c.3456C>A (p.Val1152=) c.3378C>A (p.Val1126=) c.3345C>A (p.Val1115=) c.3354C>A (p.Val1118=) c.2364C>A (p.Val788=) | |
| 1 | g.154585334A>C | CA342635213 | ADAR | c.3220T>G (n.3220T>G) c.3356T>G (p.Val1119Gly) c.3209T>G (p.Val1070Gly) c.2978T>G (p.Val993Gly) c.2441T>G (p.Val814Gly) c.3326T>G (p.Val1109Gly) n.2119T>G c.3248T>G (p.Val1083Gly) n.3311T>G c.*801T>G (n.*801T>G) n.4062T>G c.*492T>G (n.*492T>G) c.*1558T>G (n.*1558T>G) n.4187T>G c.2384T>G (p.Val795Gly) c.3143T>G (p.Val1048Gly) c.*2848T>G (n.*2848T>G) n.2994T>G c.*2926T>G (n.*2926T>G) n.85T>G c.3233T>G (p.Val1078Gly) c.3191T>G (p.Val1064Gly) c.3455T>G (p.Val1152Gly) c.3377T>G (p.Val1126Gly) c.3344T>G (p.Val1115Gly) c.3353T>G (p.Val1118Gly) c.2363T>G (p.Val788Gly) | |
| 1 | g.154585334A>G | CA342635214 | ADAR | c.3220T>C (n.3220T>C) c.3356T>C (p.Val1119Ala) c.3209T>C (p.Val1070Ala) c.2978T>C (p.Val993Ala) c.2441T>C (p.Val814Ala) c.3326T>C (p.Val1109Ala) n.2119T>C c.3248T>C (p.Val1083Ala) n.3311T>C c.*801T>C (n.*801T>C) n.4062T>C c.*492T>C (n.*492T>C) c.*1558T>C (n.*1558T>C) n.4187T>C c.2384T>C (p.Val795Ala) c.3143T>C (p.Val1048Ala) c.*2848T>C (n.*2848T>C) n.2994T>C c.*2926T>C (n.*2926T>C) n.85T>C c.3233T>C (p.Val1078Ala) c.3191T>C (p.Val1064Ala) c.3455T>C (p.Val1152Ala) c.3377T>C (p.Val1126Ala) c.3344T>C (p.Val1115Ala) c.3353T>C (p.Val1118Ala) c.2363T>C (p.Val788Ala) | |
| 1 | g.154585334A>T | CA342635215 | ADAR | c.3220T>A (n.3220T>A) c.3356T>A (p.Val1119Asp) c.3209T>A (p.Val1070Asp) c.2978T>A (p.Val993Asp) c.2441T>A (p.Val814Asp) c.3326T>A (p.Val1109Asp) n.2119T>A c.3248T>A (p.Val1083Asp) n.3311T>A c.*801T>A (n.*801T>A) n.4062T>A c.*492T>A (n.*492T>A) c.*1558T>A (n.*1558T>A) n.4187T>A c.2384T>A (p.Val795Asp) c.3143T>A (p.Val1048Asp) c.*2848T>A (n.*2848T>A) n.2994T>A c.*2926T>A (n.*2926T>A) n.85T>A c.3233T>A (p.Val1078Asp) c.3191T>A (p.Val1064Asp) c.3455T>A (p.Val1152Asp) c.3377T>A (p.Val1126Asp) c.3344T>A (p.Val1115Asp) c.3353T>A (p.Val1118Asp) c.2363T>A (p.Val788Asp) | |
| 1 | g.154585335C>A | CA342635216 | ADAR | c.3219G>T (n.3219G>T) c.3355G>T (p.Val1119Phe) c.3208G>T (p.Val1070Phe) c.2977G>T (p.Val993Phe) c.2440G>T (p.Val814Phe) c.3325G>T (p.Val1109Phe) n.2118G>T c.3247G>T (p.Val1083Phe) n.3310G>T c.*800G>T (n.*800G>T) n.4061G>T c.*491G>T (n.*491G>T) c.*1557G>T (n.*1557G>T) n.4186G>T c.2383G>T (p.Val795Phe) c.3142G>T (p.Val1048Phe) c.*2847G>T (n.*2847G>T) n.2993G>T c.*2925G>T (n.*2925G>T) n.84G>T c.3232G>T (p.Val1078Phe) c.3190G>T (p.Val1064Phe) c.3454G>T (p.Val1152Phe) c.3376G>T (p.Val1126Phe) c.3343G>T (p.Val1115Phe) c.3352G>T (p.Val1118Phe) c.2362G>T (p.Val788Phe) | |
| 1 | g.154585335C>G | CA342635217 | ADAR | c.3219G>C (n.3219G>C) c.3355G>C (p.Val1119Leu) c.3208G>C (p.Val1070Leu) c.2977G>C (p.Val993Leu) c.2440G>C (p.Val814Leu) c.3325G>C (p.Val1109Leu) n.2118G>C c.3247G>C (p.Val1083Leu) n.3310G>C c.*800G>C (n.*800G>C) n.4061G>C c.*491G>C (n.*491G>C) c.*1557G>C (n.*1557G>C) n.4186G>C c.2383G>C (p.Val795Leu) c.3142G>C (p.Val1048Leu) c.*2847G>C (n.*2847G>C) n.2993G>C c.*2925G>C (n.*2925G>C) n.84G>C c.3232G>C (p.Val1078Leu) c.3190G>C (p.Val1064Leu) c.3454G>C (p.Val1152Leu) c.3376G>C (p.Val1126Leu) c.3343G>C (p.Val1115Leu) c.3352G>C (p.Val1118Leu) c.2362G>C (p.Val788Leu) | |
| 1 | g.154585335C>T | CA342635218 | ADAR | c.3219G>A (n.3219G>A) c.3355G>A (p.Val1119Ile) c.3208G>A (p.Val1070Ile) c.2977G>A (p.Val993Ile) c.2440G>A (p.Val814Ile) c.3325G>A (p.Val1109Ile) n.2118G>A c.3247G>A (p.Val1083Ile) n.3310G>A c.*800G>A (n.*800G>A) n.4061G>A c.*491G>A (n.*491G>A) c.*1557G>A (n.*1557G>A) n.4186G>A c.2383G>A (p.Val795Ile) c.3142G>A (p.Val1048Ile) c.*2847G>A (n.*2847G>A) n.2993G>A c.*2925G>A (n.*2925G>A) n.84G>A c.3232G>A (p.Val1078Ile) c.3190G>A (p.Val1064Ile) c.3454G>A (p.Val1152Ile) c.3376G>A (p.Val1126Ile) c.3343G>A (p.Val1115Ile) c.3352G>A (p.Val1118Ile) c.2362G>A (p.Val788Ile) | gnomAD v4 |
| 1 | g.154585336T>A | CA342635219 | ADAR | c.3218A>T (n.3218A>T) c.3354A>T (p.Arg1118Ser) c.3207A>T (p.Arg1069Ser) c.2976A>T (p.Arg992Ser) c.2439A>T (p.Arg813Ser) c.3324A>T (p.Arg1108Ser) n.2117A>T c.3246A>T (p.Arg1082Ser) n.3309A>T c.*799A>T (n.*799A>T) n.4060A>T c.*490A>T (n.*490A>T) c.*1556A>T (n.*1556A>T) n.4185A>T c.2382A>T (p.Arg794Ser) c.3141A>T (p.Arg1047Ser) c.*2846A>T (n.*2846A>T) n.2992A>T c.*2924A>T (n.*2924A>T) n.83A>T c.3231A>T (p.Arg1077Ser) c.3189A>T (p.Arg1063Ser) c.3453A>T (p.Arg1151Ser) c.3375A>T (p.Arg1125Ser) c.3342A>T (p.Arg1114Ser) c.3351A>T (p.Arg1117Ser) c.2361A>T (p.Arg787Ser) | |
| 1 | g.154585336T>C | CA420974575 | ADAR | c.3218A>G (n.3218A>G) c.3354A>G (p.Arg1118=) c.3207A>G (p.Arg1069=) c.2976A>G (p.Arg992=) c.2439A>G (p.Arg813=) c.3324A>G (p.Arg1108=) n.2117A>G c.3246A>G (p.Arg1082=) n.3309A>G c.*799A>G (n.*799A>G) n.4060A>G c.*490A>G (n.*490A>G) c.*1556A>G (n.*1556A>G) n.4185A>G c.2382A>G (p.Arg794=) c.3141A>G (p.Arg1047=) c.*2846A>G (n.*2846A>G) n.2992A>G c.*2924A>G (n.*2924A>G) n.83A>G c.3231A>G (p.Arg1077=) c.3189A>G (p.Arg1063=) c.3453A>G (p.Arg1151=) c.3375A>G (p.Arg1125=) c.3342A>G (p.Arg1114=) c.3351A>G (p.Arg1117=) c.2361A>G (p.Arg787=) | |
| 1 | g.154585336T>G | CA342635220 | ADAR | c.3218A>C (n.3218A>C) c.3354A>C (p.Arg1118Ser) c.3207A>C (p.Arg1069Ser) c.2976A>C (p.Arg992Ser) c.2439A>C (p.Arg813Ser) c.3324A>C (p.Arg1108Ser) n.2117A>C c.3246A>C (p.Arg1082Ser) n.3309A>C c.*799A>C (n.*799A>C) n.4060A>C c.*490A>C (n.*490A>C) c.*1556A>C (n.*1556A>C) n.4185A>C c.2382A>C (p.Arg794Ser) c.3141A>C (p.Arg1047Ser) c.*2846A>C (n.*2846A>C) n.2992A>C c.*2924A>C (n.*2924A>C) n.83A>C c.3231A>C (p.Arg1077Ser) c.3189A>C (p.Arg1063Ser) c.3453A>C (p.Arg1151Ser) c.3375A>C (p.Arg1125Ser) c.3342A>C (p.Arg1114Ser) c.3351A>C (p.Arg1117Ser) c.2361A>C (p.Arg787Ser) | gnomAD v4 |
| 1 | g.154585337C>A | CA342635221 | ADAR | c.3217G>T (n.3217G>T) c.3353G>T (p.Arg1118Ile) c.3206G>T (p.Arg1069Ile) c.2975G>T (p.Arg992Ile) c.2438G>T (p.Arg813Ile) c.3323G>T (p.Arg1108Ile) n.2116G>T c.3245G>T (p.Arg1082Ile) n.3308G>T c.*798G>T (n.*798G>T) n.4059G>T c.*489G>T (n.*489G>T) c.*1555G>T (n.*1555G>T) n.4184G>T c.2381G>T (p.Arg794Ile) c.3140G>T (p.Arg1047Ile) c.*2845G>T (n.*2845G>T) n.2991G>T c.*2923G>T (n.*2923G>T) n.82G>T c.3230G>T (p.Arg1077Ile) c.3188G>T (p.Arg1063Ile) c.3452G>T (p.Arg1151Ile) c.3374G>T (p.Arg1125Ile) c.3341G>T (p.Arg1114Ile) c.3350G>T (p.Arg1117Ile) c.2360G>T (p.Arg787Ile) | |
| 1 | g.154585337C>G | CA342635222 | ADAR | c.3217G>C (n.3217G>C) c.3353G>C (p.Arg1118Thr) c.3206G>C (p.Arg1069Thr) c.2975G>C (p.Arg992Thr) c.2438G>C (p.Arg813Thr) c.3323G>C (p.Arg1108Thr) n.2116G>C c.3245G>C (p.Arg1082Thr) n.3308G>C c.*798G>C (n.*798G>C) n.4059G>C c.*489G>C (n.*489G>C) c.*1555G>C (n.*1555G>C) n.4184G>C c.2381G>C (p.Arg794Thr) c.3140G>C (p.Arg1047Thr) c.*2845G>C (n.*2845G>C) n.2991G>C c.*2923G>C (n.*2923G>C) n.82G>C c.3230G>C (p.Arg1077Thr) c.3188G>C (p.Arg1063Thr) c.3452G>C (p.Arg1151Thr) c.3374G>C (p.Arg1125Thr) c.3341G>C (p.Arg1114Thr) c.3350G>C (p.Arg1117Thr) c.2360G>C (p.Arg787Thr) | |
| 1 | g.154585337C>T | CA342635223 | ADAR | c.3217G>A (n.3217G>A) c.3353G>A (p.Arg1118Lys) c.3206G>A (p.Arg1069Lys) c.2975G>A (p.Arg992Lys) c.2438G>A (p.Arg813Lys) c.3323G>A (p.Arg1108Lys) n.2116G>A c.3245G>A (p.Arg1082Lys) n.3308G>A c.*798G>A (n.*798G>A) n.4059G>A c.*489G>A (n.*489G>A) c.*1555G>A (n.*1555G>A) n.4184G>A c.2381G>A (p.Arg794Lys) c.3140G>A (p.Arg1047Lys) c.*2845G>A (n.*2845G>A) n.2991G>A c.*2923G>A (n.*2923G>A) n.82G>A c.3230G>A (p.Arg1077Lys) c.3188G>A (p.Arg1063Lys) c.3452G>A (p.Arg1151Lys) c.3374G>A (p.Arg1125Lys) c.3341G>A (p.Arg1114Lys) c.3350G>A (p.Arg1117Lys) c.2360G>A (p.Arg787Lys) | COSMIC COSMIC |
| 1 | g.154585338T>A | CA342635225 | ADAR | c.3216A>T (n.3216A>T) c.3352A>T (p.Arg1118Ter) c.3205A>T (p.Arg1069Ter) c.2974A>T (p.Arg992Ter) c.2437A>T (p.Arg813Ter) c.3322A>T (p.Arg1108Ter) n.2115A>T c.3244A>T (p.Arg1082Ter) n.3307A>T c.*797A>T (n.*797A>T) n.4058A>T c.*488A>T (n.*488A>T) c.*1554A>T (n.*1554A>T) n.4183A>T c.2380A>T (p.Arg794Ter) c.3139A>T (p.Arg1047Ter) c.*2844A>T (n.*2844A>T) n.2990A>T c.*2922A>T (n.*2922A>T) n.81A>T c.3229A>T (p.Arg1077Ter) c.3187A>T (p.Arg1063Ter) c.3451A>T (p.Arg1151Ter) c.3373A>T (p.Arg1125Ter) c.3340A>T (p.Arg1114Ter) c.3349A>T (p.Arg1117Ter) c.2359A>T (p.Arg787Ter) | dbSNP |