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.154585225_154585226insTTCCTTACCCTTCCACA | CA2586967338 | ADAR | c.3334_3335insAGGGTAAGGAATGTGGA (n.3334_3335insAGGGTAAGGAATGTGGA) c.3470_3471insAGGGTAAGGAATGTGGA (p.Asp1157GlufsTer3) c.3323_3324insAGGGTAAGGAATGTGGA (p.Asp1108GlufsTer3) c.3092_3093insAGGGTAAGGAATGTGGA (p.Asp1031GlufsTer3) c.2555_2556insAGGGTAAGGAATGTGGA (p.Asp852GlufsTer3) c.3440_3441insAGGGTAAGGAATGTGGA (p.Asp1147GlufsTer3) n.2233_2234insAGGGTAAGGAATGTGGA c.3362_3363insAGGGTAAGGAATGTGGA (p.Asp1121GlufsTer3) n.3425_3426insAGGGTAAGGAATGTGGA c.*915_*916insAGGGTAAGGAATGTGGA (n.*915_*916insAGGGTAAGGAATGTGGA) n.4176_4177insAGGGTAAGGAATGTGGA c.*606_*607insAGGGTAAGGAATGTGGA (n.*606_*607insAGGGTAAGGAATGTGGA) c.*1672_*1673insAGGGTAAGGAATGTGGA (n.*1672_*1673insAGGGTAAGGAATGTGGA) n.4301_4302insAGGGTAAGGAATGTGGA c.2498_2499insAGGGTAAGGAATGTGGA (p.Asp833GlufsTer3) c.3257_3258insAGGGTAAGGAATGTGGA (p.Asp1086GlufsTer3) c.*2962_*2963insAGGGTAAGGAATGTGGA (n.*2962_*2963insAGGGTAAGGAATGTGGA) n.3108_3109insAGGGTAAGGAATGTGGA c.*3040_*3041insAGGGTAAGGAATGTGGA (n.*3040_*3041insAGGGTAAGGAATGTGGA) n.199_200insAGGGTAAGGAATGTGGA c.3347_3348insAGGGTAAGGAATGTGGA (p.Asp1116GlufsTer3) c.3305_3306insAGGGTAAGGAATGTGGA (p.Asp1102GlufsTer3) c.3569_3570insAGGGTAAGGAATGTGGA (p.Asp1190GlufsTer3) c.3491_3492insAGGGTAAGGAATGTGGA (p.Asp1164GlufsTer3) c.3458_3459insAGGGTAAGGAATGTGGA (p.Asp1153GlufsTer3) c.3467_3468insAGGGTAAGGAATGTGGA (p.Asp1156GlufsTer3) c.2477_2478insAGGGTAAGGAATGTGGA (p.Asp826GlufsTer3) | |
| 1 | g.154585223A>C | CA342634967 | ADAR | c.3331T>G (n.3331T>G) c.3467T>G (p.Val1156Gly) c.3320T>G (p.Val1107Gly) c.3089T>G (p.Val1030Gly) c.2552T>G (p.Val851Gly) c.3437T>G (p.Val1146Gly) n.2230T>G c.3359T>G (p.Val1120Gly) n.3422T>G c.*912T>G (n.*912T>G) n.4173T>G c.*603T>G (n.*603T>G) c.*1669T>G (n.*1669T>G) n.4298T>G c.2495T>G (p.Val832Gly) c.3254T>G (p.Val1085Gly) c.*2959T>G (n.*2959T>G) n.3105T>G c.*3037T>G (n.*3037T>G) n.196T>G c.3344T>G (p.Val1115Gly) c.3302T>G (p.Val1101Gly) c.3566T>G (p.Val1189Gly) c.3488T>G (p.Val1163Gly) c.3455T>G (p.Val1152Gly) c.3464T>G (p.Val1155Gly) c.2474T>G (p.Val825Gly) | |
| 1 | g.154585223A>G | CA342634968 | ADAR | c.3331T>C (n.3331T>C) c.3467T>C (p.Val1156Ala) c.3320T>C (p.Val1107Ala) c.3089T>C (p.Val1030Ala) c.2552T>C (p.Val851Ala) c.3437T>C (p.Val1146Ala) n.2230T>C c.3359T>C (p.Val1120Ala) n.3422T>C c.*912T>C (n.*912T>C) n.4173T>C c.*603T>C (n.*603T>C) c.*1669T>C (n.*1669T>C) n.4298T>C c.2495T>C (p.Val832Ala) c.3254T>C (p.Val1085Ala) c.*2959T>C (n.*2959T>C) n.3105T>C c.*3037T>C (n.*3037T>C) n.196T>C c.3344T>C (p.Val1115Ala) c.3302T>C (p.Val1101Ala) c.3566T>C (p.Val1189Ala) c.3488T>C (p.Val1163Ala) c.3455T>C (p.Val1152Ala) c.3464T>C (p.Val1155Ala) c.2474T>C (p.Val825Ala) | |
| 1 | g.154585223A>T | CA342634969 | ADAR | c.3331T>A (n.3331T>A) c.3467T>A (p.Val1156Glu) c.3320T>A (p.Val1107Glu) c.3089T>A (p.Val1030Glu) c.2552T>A (p.Val851Glu) c.3437T>A (p.Val1146Glu) n.2230T>A c.3359T>A (p.Val1120Glu) n.3422T>A c.*912T>A (n.*912T>A) n.4173T>A c.*603T>A (n.*603T>A) c.*1669T>A (n.*1669T>A) n.4298T>A c.2495T>A (p.Val832Glu) c.3254T>A (p.Val1085Glu) c.*2959T>A (n.*2959T>A) n.3105T>A c.*3037T>A (n.*3037T>A) n.196T>A c.3344T>A (p.Val1115Glu) c.3302T>A (p.Val1101Glu) c.3566T>A (p.Val1189Glu) c.3488T>A (p.Val1163Glu) c.3455T>A (p.Val1152Glu) c.3464T>A (p.Val1155Glu) c.2474T>A (p.Val825Glu) | |
| 1 | g.154585224C>A | CA342634970 | ADAR | c.3330G>T (n.3330G>T) c.3466G>T (p.Val1156Leu) c.3319G>T (p.Val1107Leu) c.3088G>T (p.Val1030Leu) c.2551G>T (p.Val851Leu) c.3436G>T (p.Val1146Leu) n.2229G>T c.3358G>T (p.Val1120Leu) n.3421G>T c.*911G>T (n.*911G>T) n.4172G>T c.*602G>T (n.*602G>T) c.*1668G>T (n.*1668G>T) n.4297G>T c.2494G>T (p.Val832Leu) c.3253G>T (p.Val1085Leu) c.*2958G>T (n.*2958G>T) n.3104G>T c.*3036G>T (n.*3036G>T) n.195G>T c.3343G>T (p.Val1115Leu) c.3301G>T (p.Val1101Leu) c.3565G>T (p.Val1189Leu) c.3487G>T (p.Val1163Leu) c.3454G>T (p.Val1152Leu) c.3463G>T (p.Val1155Leu) c.2473G>T (p.Val825Leu) | gnomAD v4 |
| 1 | g.154585224C= | CA2480931327 | ADAR | c.3330G= (n.3330G=) c.3466G= (p.Val1156=) c.3319G= (p.Val1107=) c.3088G= (p.Val1030=) c.2551G= (p.Val851=) c.3436G= (p.Val1146=) n.2229G= c.3358G= (p.Val1120=) n.3421G= c.*911G= (n.*911G=) n.4172G= c.*602G= (n.*602G=) c.*1668G= (n.*1668G=) n.4297G= c.2494G= (p.Val832=) c.3253G= (p.Val1085=) c.*2958G= (n.*2958G=) n.3104G= c.*3036G= (n.*3036G=) n.195G= c.3343G= (p.Val1115=) c.3301G= (p.Val1101=) c.3565G= (p.Val1189=) c.3487G= (p.Val1163=) c.3454G= (p.Val1152=) c.3463G= (p.Val1155=) c.2473G= (p.Val825=) | |
| 1 | g.154585224C>G | CA342634971 | ADAR | c.3330G>C (n.3330G>C) c.3466G>C (p.Val1156Leu) c.3319G>C (p.Val1107Leu) c.3088G>C (p.Val1030Leu) c.2551G>C (p.Val851Leu) c.3436G>C (p.Val1146Leu) n.2229G>C c.3358G>C (p.Val1120Leu) n.3421G>C c.*911G>C (n.*911G>C) n.4172G>C c.*602G>C (n.*602G>C) c.*1668G>C (n.*1668G>C) n.4297G>C c.2494G>C (p.Val832Leu) c.3253G>C (p.Val1085Leu) c.*2958G>C (n.*2958G>C) n.3104G>C c.*3036G>C (n.*3036G>C) n.195G>C c.3343G>C (p.Val1115Leu) c.3301G>C (p.Val1101Leu) c.3565G>C (p.Val1189Leu) c.3487G>C (p.Val1163Leu) c.3454G>C (p.Val1152Leu) c.3463G>C (p.Val1155Leu) c.2473G>C (p.Val825Leu) | |
| 1 | g.154585224C>T | CA342634972 | ADAR | c.3330G>A (n.3330G>A) c.3466G>A (p.Val1156Met) c.3319G>A (p.Val1107Met) c.3088G>A (p.Val1030Met) c.2551G>A (p.Val851Met) c.3436G>A (p.Val1146Met) n.2229G>A c.3358G>A (p.Val1120Met) n.3421G>A c.*911G>A (n.*911G>A) n.4172G>A c.*602G>A (n.*602G>A) c.*1668G>A (n.*1668G>A) n.4297G>A c.2494G>A (p.Val832Met) c.3253G>A (p.Val1085Met) c.*2958G>A (n.*2958G>A) n.3104G>A c.*3036G>A (n.*3036G>A) n.195G>A c.3343G>A (p.Val1115Met) c.3301G>A (p.Val1101Met) c.3565G>A (p.Val1189Met) c.3487G>A (p.Val1163Met) c.3454G>A (p.Val1152Met) c.3463G>A (p.Val1155Met) c.2473G>A (p.Val825Met) | dbSNP |
| 1 | g.154585225A= | CA2480931328 | ADAR | c.3329T= (n.3329T=) c.3465T= (p.Thr1155=) c.3318T= (p.Thr1106=) c.3087T= (p.Thr1029=) c.2550T= (p.Thr850=) c.3435T= (p.Thr1145=) n.2228T= c.3357T= (p.Thr1119=) n.3420T= c.*910T= (n.*910T=) n.4171T= c.*601T= (n.*601T=) c.*1667T= (n.*1667T=) n.4296T= c.2493T= (p.Thr831=) c.3252T= (p.Thr1084=) c.*2957T= (n.*2957T=) n.3103T= c.*3035T= (n.*3035T=) n.194T= c.3342T= (p.Thr1114=) c.3300T= (p.Thr1100=) c.3564T= (p.Thr1188=) c.3486T= (p.Thr1162=) c.3453T= (p.Thr1151=) c.3462T= (p.Thr1154=) c.2472T= (p.Thr824=) | |
| 1 | g.154585225A>C | CA420974448 | ADAR | c.3329T>G (n.3329T>G) c.3465T>G (p.Thr1155=) c.3318T>G (p.Thr1106=) c.3087T>G (p.Thr1029=) c.2550T>G (p.Thr850=) c.3435T>G (p.Thr1145=) n.2228T>G c.3357T>G (p.Thr1119=) n.3420T>G c.*910T>G (n.*910T>G) n.4171T>G c.*601T>G (n.*601T>G) c.*1667T>G (n.*1667T>G) n.4296T>G c.2493T>G (p.Thr831=) c.3252T>G (p.Thr1084=) c.*2957T>G (n.*2957T>G) n.3103T>G c.*3035T>G (n.*3035T>G) n.194T>G c.3342T>G (p.Thr1114=) c.3300T>G (p.Thr1100=) c.3564T>G (p.Thr1188=) c.3486T>G (p.Thr1162=) c.3453T>G (p.Thr1151=) c.3462T>G (p.Thr1154=) c.2472T>G (p.Thr824=) | |
| 1 | g.154585225A>G | CA420974449 | ADAR | c.3329T>C (n.3329T>C) c.3465T>C (p.Thr1155=) c.3318T>C (p.Thr1106=) c.3087T>C (p.Thr1029=) c.2550T>C (p.Thr850=) c.3435T>C (p.Thr1145=) n.2228T>C c.3357T>C (p.Thr1119=) n.3420T>C c.*910T>C (n.*910T>C) n.4171T>C c.*601T>C (n.*601T>C) c.*1667T>C (n.*1667T>C) n.4296T>C c.2493T>C (p.Thr831=) c.3252T>C (p.Thr1084=) c.*2957T>C (n.*2957T>C) n.3103T>C c.*3035T>C (n.*3035T>C) n.194T>C c.3342T>C (p.Thr1114=) c.3300T>C (p.Thr1100=) c.3564T>C (p.Thr1188=) c.3486T>C (p.Thr1162=) c.3453T>C (p.Thr1151=) c.3462T>C (p.Thr1154=) c.2472T>C (p.Thr824=) | dbSNP |
| 1 | g.154585225A>T | CA420974450 | ADAR | c.3329T>A (n.3329T>A) c.3465T>A (p.Thr1155=) c.3318T>A (p.Thr1106=) c.3087T>A (p.Thr1029=) c.2550T>A (p.Thr850=) c.3435T>A (p.Thr1145=) n.2228T>A c.3357T>A (p.Thr1119=) n.3420T>A c.*910T>A (n.*910T>A) n.4171T>A c.*601T>A (n.*601T>A) c.*1667T>A (n.*1667T>A) n.4296T>A c.2493T>A (p.Thr831=) c.3252T>A (p.Thr1084=) c.*2957T>A (n.*2957T>A) n.3103T>A c.*3035T>A (n.*3035T>A) n.194T>A c.3342T>A (p.Thr1114=) c.3300T>A (p.Thr1100=) c.3564T>A (p.Thr1188=) c.3486T>A (p.Thr1162=) c.3453T>A (p.Thr1151=) c.3462T>A (p.Thr1154=) c.2472T>A (p.Thr824=) | |
| 1 | g.154585226G>A | CA342634973 | ADAR | c.3328C>T (n.3328C>T) c.3464C>T (p.Thr1155Ile) c.3317C>T (p.Thr1106Ile) c.3086C>T (p.Thr1029Ile) c.2549C>T (p.Thr850Ile) c.3434C>T (p.Thr1145Ile) n.2227C>T c.3356C>T (p.Thr1119Ile) n.3419C>T c.*909C>T (n.*909C>T) n.4170C>T c.*600C>T (n.*600C>T) c.*1666C>T (n.*1666C>T) n.4295C>T c.2492C>T (p.Thr831Ile) c.3251C>T (p.Thr1084Ile) c.*2956C>T (n.*2956C>T) n.3102C>T c.*3034C>T (n.*3034C>T) n.193C>T c.3341C>T (p.Thr1114Ile) c.3299C>T (p.Thr1100Ile) c.3563C>T (p.Thr1188Ile) c.3485C>T (p.Thr1162Ile) c.3452C>T (p.Thr1151Ile) c.3461C>T (p.Thr1154Ile) c.2471C>T (p.Thr824Ile) | |
| 1 | g.154585226G>C | CA342634974 | ADAR | c.3328C>G (n.3328C>G) c.3464C>G (p.Thr1155Ser) c.3317C>G (p.Thr1106Ser) c.3086C>G (p.Thr1029Ser) c.2549C>G (p.Thr850Ser) c.3434C>G (p.Thr1145Ser) n.2227C>G c.3356C>G (p.Thr1119Ser) n.3419C>G c.*909C>G (n.*909C>G) n.4170C>G c.*600C>G (n.*600C>G) c.*1666C>G (n.*1666C>G) n.4295C>G c.2492C>G (p.Thr831Ser) c.3251C>G (p.Thr1084Ser) c.*2956C>G (n.*2956C>G) n.3102C>G c.*3034C>G (n.*3034C>G) n.193C>G c.3341C>G (p.Thr1114Ser) c.3299C>G (p.Thr1100Ser) c.3563C>G (p.Thr1188Ser) c.3485C>G (p.Thr1162Ser) c.3452C>G (p.Thr1151Ser) c.3461C>G (p.Thr1154Ser) c.2471C>G (p.Thr824Ser) | |
| 1 | g.154585226G>T | CA342634975 | ADAR | c.3328C>A (n.3328C>A) c.3464C>A (p.Thr1155Asn) c.3317C>A (p.Thr1106Asn) c.3086C>A (p.Thr1029Asn) c.2549C>A (p.Thr850Asn) c.3434C>A (p.Thr1145Asn) n.2227C>A c.3356C>A (p.Thr1119Asn) n.3419C>A c.*909C>A (n.*909C>A) n.4170C>A c.*600C>A (n.*600C>A) c.*1666C>A (n.*1666C>A) n.4295C>A c.2492C>A (p.Thr831Asn) c.3251C>A (p.Thr1084Asn) c.*2956C>A (n.*2956C>A) n.3102C>A c.*3034C>A (n.*3034C>A) n.193C>A c.3341C>A (p.Thr1114Asn) c.3299C>A (p.Thr1100Asn) c.3563C>A (p.Thr1188Asn) c.3485C>A (p.Thr1162Asn) c.3452C>A (p.Thr1151Asn) c.3461C>A (p.Thr1154Asn) c.2471C>A (p.Thr824Asn) | gnomAD v4 |
| 1 | g.154585227T>A | CA342634976 | ADAR | c.3327A>T (n.3327A>T) c.3463A>T (p.Thr1155Ser) c.3316A>T (p.Thr1106Ser) c.3085A>T (p.Thr1029Ser) c.2548A>T (p.Thr850Ser) c.3433A>T (p.Thr1145Ser) n.2226A>T c.3355A>T (p.Thr1119Ser) n.3418A>T c.*908A>T (n.*908A>T) n.4169A>T c.*599A>T (n.*599A>T) c.*1665A>T (n.*1665A>T) n.4294A>T c.2491A>T (p.Thr831Ser) c.3250A>T (p.Thr1084Ser) c.*2955A>T (n.*2955A>T) n.3101A>T c.*3033A>T (n.*3033A>T) n.192A>T c.3340A>T (p.Thr1114Ser) c.3298A>T (p.Thr1100Ser) c.3562A>T (p.Thr1188Ser) c.3484A>T (p.Thr1162Ser) c.3451A>T (p.Thr1151Ser) c.3460A>T (p.Thr1154Ser) c.2470A>T (p.Thr824Ser) | |
| 1 | g.154585227T>C | CA30848818 | ADAR | c.3327A>G (n.3327A>G) c.3463A>G (p.Thr1155Ala) c.3316A>G (p.Thr1106Ala) c.3085A>G (p.Thr1029Ala) c.2548A>G (p.Thr850Ala) c.3433A>G (p.Thr1145Ala) n.2226A>G c.3355A>G (p.Thr1119Ala) n.3418A>G c.*908A>G (n.*908A>G) n.4169A>G c.*599A>G (n.*599A>G) c.*1665A>G (n.*1665A>G) n.4294A>G c.2491A>G (p.Thr831Ala) c.3250A>G (p.Thr1084Ala) c.*2955A>G (n.*2955A>G) n.3101A>G c.*3033A>G (n.*3033A>G) n.192A>G c.3340A>G (p.Thr1114Ala) c.3298A>G (p.Thr1100Ala) c.3562A>G (p.Thr1188Ala) c.3484A>G (p.Thr1162Ala) c.3451A>G (p.Thr1151Ala) c.3460A>G (p.Thr1154Ala) c.2470A>G (p.Thr824Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.154585227T>G | CA342634977 | ADAR | c.3327A>C (n.3327A>C) c.3463A>C (p.Thr1155Pro) c.3316A>C (p.Thr1106Pro) c.3085A>C (p.Thr1029Pro) c.2548A>C (p.Thr850Pro) c.3433A>C (p.Thr1145Pro) n.2226A>C c.3355A>C (p.Thr1119Pro) n.3418A>C c.*908A>C (n.*908A>C) n.4169A>C c.*599A>C (n.*599A>C) c.*1665A>C (n.*1665A>C) n.4294A>C c.2491A>C (p.Thr831Pro) c.3250A>C (p.Thr1084Pro) c.*2955A>C (n.*2955A>C) n.3101A>C c.*3033A>C (n.*3033A>C) n.192A>C c.3340A>C (p.Thr1114Pro) c.3298A>C (p.Thr1100Pro) c.3562A>C (p.Thr1188Pro) c.3484A>C (p.Thr1162Pro) c.3451A>C (p.Thr1151Pro) c.3460A>C (p.Thr1154Pro) c.2470A>C (p.Thr824Pro) | |
| 1 | g.154585227T= | CA1143394475 | ADAR | c.3327A= (n.3327A=) c.3463A= (p.Thr1155=) c.3316A= (p.Thr1106=) c.3085A= (p.Thr1029=) c.2548A= (p.Thr850=) c.3433A= (p.Thr1145=) n.2226A= c.3355A= (p.Thr1119=) n.3418A= c.*908A= (n.*908A=) n.4169A= c.*599A= (n.*599A=) c.*1665A= (n.*1665A=) n.4294A= c.2491A= (p.Thr831=) c.3250A= (p.Thr1084=) c.*2955A= (n.*2955A=) n.3101A= c.*3033A= (n.*3033A=) n.192A= c.3340A= (p.Thr1114=) c.3298A= (p.Thr1100=) c.3562A= (p.Thr1188=) c.3484A= (p.Thr1162=) c.3451A= (p.Thr1151=) c.3460A= (p.Thr1154=) c.2470A= (p.Thr824=) | |
| 1 | g.154585228G>A | CA420974451 | ADAR | c.3326C>T (n.3326C>T) c.3462C>T (p.Gly1154=) c.3315C>T (p.Gly1105=) c.3084C>T (p.Gly1028=) c.2547C>T (p.Gly849=) c.3432C>T (p.Gly1144=) n.2225C>T c.3354C>T (p.Gly1118=) n.3417C>T c.*907C>T (n.*907C>T) n.4168C>T c.*598C>T (n.*598C>T) c.*1664C>T (n.*1664C>T) n.4293C>T c.2490C>T (p.Gly830=) c.3249C>T (p.Gly1083=) c.*2954C>T (n.*2954C>T) n.3100C>T c.*3032C>T (n.*3032C>T) n.191C>T c.3339C>T (p.Gly1113=) c.3297C>T (p.Gly1099=) c.3561C>T (p.Gly1187=) c.3483C>T (p.Gly1161=) c.3450C>T (p.Gly1150=) c.3459C>T (p.Gly1153=) c.2469C>T (p.Gly823=) | gnomAD v4 |
| 1 | g.154585228G>C | CA1130957 | ADAR | c.3326C>G (n.3326C>G) c.3462C>G (p.Gly1154=) c.3315C>G (p.Gly1105=) c.3084C>G (p.Gly1028=) c.2547C>G (p.Gly849=) c.3432C>G (p.Gly1144=) n.2225C>G c.3354C>G (p.Gly1118=) n.3417C>G c.*907C>G (n.*907C>G) n.4168C>G c.*598C>G (n.*598C>G) c.*1664C>G (n.*1664C>G) n.4293C>G c.2490C>G (p.Gly830=) c.3249C>G (p.Gly1083=) c.*2954C>G (n.*2954C>G) n.3100C>G c.*3032C>G (n.*3032C>G) n.191C>G c.3339C>G (p.Gly1113=) c.3297C>G (p.Gly1099=) c.3561C>G (p.Gly1187=) c.3483C>G (p.Gly1161=) c.3450C>G (p.Gly1150=) c.3459C>G (p.Gly1153=) c.2469C>G (p.Gly823=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.154585228G= | CA1147386810 | ADAR | c.3326C= (n.3326C=) c.3462C= (p.Gly1154=) c.3315C= (p.Gly1105=) c.3084C= (p.Gly1028=) c.2547C= (p.Gly849=) c.3432C= (p.Gly1144=) n.2225C= c.3354C= (p.Gly1118=) n.3417C= c.*907C= (n.*907C=) n.4168C= c.*598C= (n.*598C=) c.*1664C= (n.*1664C=) n.4293C= c.2490C= (p.Gly830=) c.3249C= (p.Gly1083=) c.*2954C= (n.*2954C=) n.3100C= c.*3032C= (n.*3032C=) n.191C= c.3339C= (p.Gly1113=) c.3297C= (p.Gly1099=) c.3561C= (p.Gly1187=) c.3483C= (p.Gly1161=) c.3450C= (p.Gly1150=) c.3459C= (p.Gly1153=) c.2469C= (p.Gly823=) | |
| 1 | g.154585228G>T | CA1130956 | ADAR | c.3326C>A (n.3326C>A) c.3462C>A (p.Gly1154=) c.3315C>A (p.Gly1105=) c.3084C>A (p.Gly1028=) c.2547C>A (p.Gly849=) c.3432C>A (p.Gly1144=) n.2225C>A c.3354C>A (p.Gly1118=) n.3417C>A c.*907C>A (n.*907C>A) n.4168C>A c.*598C>A (n.*598C>A) c.*1664C>A (n.*1664C>A) n.4293C>A c.2490C>A (p.Gly830=) c.3249C>A (p.Gly1083=) c.*2954C>A (n.*2954C>A) n.3100C>A c.*3032C>A (n.*3032C>A) n.191C>A c.3339C>A (p.Gly1113=) c.3297C>A (p.Gly1099=) c.3561C>A (p.Gly1187=) c.3483C>A (p.Gly1161=) c.3450C>A (p.Gly1150=) c.3459C>A (p.Gly1153=) c.2469C>A (p.Gly823=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.154585229C>A | CA342634978 | ADAR | c.3325G>T (n.3325G>T) c.3461G>T (p.Gly1154Val) c.3314G>T (p.Gly1105Val) c.3083G>T (p.Gly1028Val) c.2546G>T (p.Gly849Val) c.3431G>T (p.Gly1144Val) n.2224G>T c.3353G>T (p.Gly1118Val) n.3416G>T c.*906G>T (n.*906G>T) n.4167G>T c.*597G>T (n.*597G>T) c.*1663G>T (n.*1663G>T) n.4292G>T c.2489G>T (p.Gly830Val) c.3248G>T (p.Gly1083Val) c.*2953G>T (n.*2953G>T) n.3099G>T c.*3031G>T (n.*3031G>T) n.190G>T c.3338G>T (p.Gly1113Val) c.3296G>T (p.Gly1099Val) c.3560G>T (p.Gly1187Val) c.3482G>T (p.Gly1161Val) c.3449G>T (p.Gly1150Val) c.3458G>T (p.Gly1153Val) c.2468G>T (p.Gly823Val) | |
| 1 | g.154585229C>G | CA342634979 | ADAR | c.3325G>C (n.3325G>C) c.3461G>C (p.Gly1154Ala) c.3314G>C (p.Gly1105Ala) c.3083G>C (p.Gly1028Ala) c.2546G>C (p.Gly849Ala) c.3431G>C (p.Gly1144Ala) n.2224G>C c.3353G>C (p.Gly1118Ala) n.3416G>C c.*906G>C (n.*906G>C) n.4167G>C c.*597G>C (n.*597G>C) c.*1663G>C (n.*1663G>C) n.4292G>C c.2489G>C (p.Gly830Ala) c.3248G>C (p.Gly1083Ala) c.*2953G>C (n.*2953G>C) n.3099G>C c.*3031G>C (n.*3031G>C) n.190G>C c.3338G>C (p.Gly1113Ala) c.3296G>C (p.Gly1099Ala) c.3560G>C (p.Gly1187Ala) c.3482G>C (p.Gly1161Ala) c.3449G>C (p.Gly1150Ala) c.3458G>C (p.Gly1153Ala) c.2468G>C (p.Gly823Ala) | |
| 1 | g.154585229C>T | CA342634980 | ADAR | c.3325G>A (n.3325G>A) c.3461G>A (p.Gly1154Asp) c.3314G>A (p.Gly1105Asp) c.3083G>A (p.Gly1028Asp) c.2546G>A (p.Gly849Asp) c.3431G>A (p.Gly1144Asp) n.2224G>A c.3353G>A (p.Gly1118Asp) n.3416G>A c.*906G>A (n.*906G>A) n.4167G>A c.*597G>A (n.*597G>A) c.*1663G>A (n.*1663G>A) n.4292G>A c.2489G>A (p.Gly830Asp) c.3248G>A (p.Gly1083Asp) c.*2953G>A (n.*2953G>A) n.3099G>A c.*3031G>A (n.*3031G>A) n.190G>A c.3338G>A (p.Gly1113Asp) c.3296G>A (p.Gly1099Asp) c.3560G>A (p.Gly1187Asp) c.3482G>A (p.Gly1161Asp) c.3449G>A (p.Gly1150Asp) c.3458G>A (p.Gly1153Asp) c.2468G>A (p.Gly823Asp) | |
| 1 | g.154585230C>A | CA342634981 | ADAR | c.3324G>T (n.3324G>T) c.3460G>T (p.Gly1154Cys) c.3313G>T (p.Gly1105Cys) c.3082G>T (p.Gly1028Cys) c.2545G>T (p.Gly849Cys) c.3430G>T (p.Gly1144Cys) n.2223G>T c.3352G>T (p.Gly1118Cys) n.3415G>T c.*905G>T (n.*905G>T) n.4166G>T c.*596G>T (n.*596G>T) c.*1662G>T (n.*1662G>T) n.4291G>T c.2488G>T (p.Gly830Cys) c.3247G>T (p.Gly1083Cys) c.*2952G>T (n.*2952G>T) n.3098G>T c.*3030G>T (n.*3030G>T) n.189G>T c.3337G>T (p.Gly1113Cys) c.3295G>T (p.Gly1099Cys) c.3559G>T (p.Gly1187Cys) c.3481G>T (p.Gly1161Cys) c.3448G>T (p.Gly1150Cys) c.3457G>T (p.Gly1153Cys) c.2467G>T (p.Gly823Cys) | |
| 1 | g.154585230C>G | CA342634982 | ADAR | c.3324G>C (n.3324G>C) c.3460G>C (p.Gly1154Arg) c.3313G>C (p.Gly1105Arg) c.3082G>C (p.Gly1028Arg) c.2545G>C (p.Gly849Arg) c.3430G>C (p.Gly1144Arg) n.2223G>C c.3352G>C (p.Gly1118Arg) n.3415G>C c.*905G>C (n.*905G>C) n.4166G>C c.*596G>C (n.*596G>C) c.*1662G>C (n.*1662G>C) n.4291G>C c.2488G>C (p.Gly830Arg) c.3247G>C (p.Gly1083Arg) c.*2952G>C (n.*2952G>C) n.3098G>C c.*3030G>C (n.*3030G>C) n.189G>C c.3337G>C (p.Gly1113Arg) c.3295G>C (p.Gly1099Arg) c.3559G>C (p.Gly1187Arg) c.3481G>C (p.Gly1161Arg) c.3448G>C (p.Gly1150Arg) c.3457G>C (p.Gly1153Arg) c.2467G>C (p.Gly823Arg) | |
| 1 | g.154585230C>T | CA342634983 | ADAR | c.3324G>A (n.3324G>A) c.3460G>A (p.Gly1154Ser) c.3313G>A (p.Gly1105Ser) c.3082G>A (p.Gly1028Ser) c.2545G>A (p.Gly849Ser) c.3430G>A (p.Gly1144Ser) n.2223G>A c.3352G>A (p.Gly1118Ser) n.3415G>A c.*905G>A (n.*905G>A) n.4166G>A c.*596G>A (n.*596G>A) c.*1662G>A (n.*1662G>A) n.4291G>A c.2488G>A (p.Gly830Ser) c.3247G>A (p.Gly1083Ser) c.*2952G>A (n.*2952G>A) n.3098G>A c.*3030G>A (n.*3030G>A) n.189G>A c.3337G>A (p.Gly1113Ser) c.3295G>A (p.Gly1099Ser) c.3559G>A (p.Gly1187Ser) c.3481G>A (p.Gly1161Ser) c.3448G>A (p.Gly1150Ser) c.3457G>A (p.Gly1153Ser) c.2467G>A (p.Gly823Ser) | ClinVar |
| 1 | g.154585231T>A | CA342634984 | ADAR | c.3323A>T (n.3323A>T) c.3459A>T (p.Arg1153Ser) c.3312A>T (p.Arg1104Ser) c.3081A>T (p.Arg1027Ser) c.2544A>T (p.Arg848Ser) c.3429A>T (p.Arg1143Ser) n.2222A>T c.3351A>T (p.Arg1117Ser) n.3414A>T c.*904A>T (n.*904A>T) n.4165A>T c.*595A>T (n.*595A>T) c.*1661A>T (n.*1661A>T) n.4290A>T c.2487A>T (p.Arg829Ser) c.3246A>T (p.Arg1082Ser) c.*2951A>T (n.*2951A>T) n.3097A>T c.*3029A>T (n.*3029A>T) n.188A>T c.3336A>T (p.Arg1112Ser) c.3294A>T (p.Arg1098Ser) c.3558A>T (p.Arg1186Ser) c.3480A>T (p.Arg1160Ser) c.3447A>T (p.Arg1149Ser) c.3456A>T (p.Arg1152Ser) c.2466A>T (p.Arg822Ser) | |
| 1 | g.154585231T>C | CA420974456 | ADAR | c.3323A>G (n.3323A>G) c.3459A>G (p.Arg1153=) c.3312A>G (p.Arg1104=) c.3081A>G (p.Arg1027=) c.2544A>G (p.Arg848=) c.3429A>G (p.Arg1143=) n.2222A>G c.3351A>G (p.Arg1117=) n.3414A>G c.*904A>G (n.*904A>G) n.4165A>G c.*595A>G (n.*595A>G) c.*1661A>G (n.*1661A>G) n.4290A>G c.2487A>G (p.Arg829=) c.3246A>G (p.Arg1082=) c.*2951A>G (n.*2951A>G) n.3097A>G c.*3029A>G (n.*3029A>G) n.188A>G c.3336A>G (p.Arg1112=) c.3294A>G (p.Arg1098=) c.3558A>G (p.Arg1186=) c.3480A>G (p.Arg1160=) c.3447A>G (p.Arg1149=) c.3456A>G (p.Arg1152=) c.2466A>G (p.Arg822=) | |
| 1 | g.154585231T>G | CA342634985 | ADAR | c.3323A>C (n.3323A>C) c.3459A>C (p.Arg1153Ser) c.3312A>C (p.Arg1104Ser) c.3081A>C (p.Arg1027Ser) c.2544A>C (p.Arg848Ser) c.3429A>C (p.Arg1143Ser) n.2222A>C c.3351A>C (p.Arg1117Ser) n.3414A>C c.*904A>C (n.*904A>C) n.4165A>C c.*595A>C (n.*595A>C) c.*1661A>C (n.*1661A>C) n.4290A>C c.2487A>C (p.Arg829Ser) c.3246A>C (p.Arg1082Ser) c.*2951A>C (n.*2951A>C) n.3097A>C c.*3029A>C (n.*3029A>C) n.188A>C c.3336A>C (p.Arg1112Ser) c.3294A>C (p.Arg1098Ser) c.3558A>C (p.Arg1186Ser) c.3480A>C (p.Arg1160Ser) c.3447A>C (p.Arg1149Ser) c.3456A>C (p.Arg1152Ser) c.2466A>C (p.Arg822Ser) | |
| 1 | g.154585232C>A | CA342634986 | ADAR | c.3322G>T (n.3322G>T) c.3458G>T (p.Arg1153Ile) c.3311G>T (p.Arg1104Ile) c.3080G>T (p.Arg1027Ile) c.2543G>T (p.Arg848Ile) c.3428G>T (p.Arg1143Ile) n.2221G>T c.3350G>T (p.Arg1117Ile) n.3413G>T c.*903G>T (n.*903G>T) n.4164G>T c.*594G>T (n.*594G>T) c.*1660G>T (n.*1660G>T) n.4289G>T c.2486G>T (p.Arg829Ile) c.3245G>T (p.Arg1082Ile) c.*2950G>T (n.*2950G>T) n.3096G>T c.*3028G>T (n.*3028G>T) n.187G>T c.3335G>T (p.Arg1112Ile) c.3293G>T (p.Arg1098Ile) c.3557G>T (p.Arg1186Ile) c.3479G>T (p.Arg1160Ile) c.3446G>T (p.Arg1149Ile) c.3455G>T (p.Arg1152Ile) c.2465G>T (p.Arg822Ile) | |
| 1 | g.154585232C= | CA2480931329 | ADAR | c.3322G= (n.3322G=) c.3458G= (p.Arg1153=) c.3311G= (p.Arg1104=) c.3080G= (p.Arg1027=) c.2543G= (p.Arg848=) c.3428G= (p.Arg1143=) n.2221G= c.3350G= (p.Arg1117=) n.3413G= c.*903G= (n.*903G=) n.4164G= c.*594G= (n.*594G=) c.*1660G= (n.*1660G=) n.4289G= c.2486G= (p.Arg829=) c.3245G= (p.Arg1082=) c.*2950G= (n.*2950G=) n.3096G= c.*3028G= (n.*3028G=) n.187G= c.3335G= (p.Arg1112=) c.3293G= (p.Arg1098=) c.3557G= (p.Arg1186=) c.3479G= (p.Arg1160=) c.3446G= (p.Arg1149=) c.3455G= (p.Arg1152=) c.2465G= (p.Arg822=) | |
| 1 | g.154585232C>G | CA30848823 | ADAR | c.3322G>C (n.3322G>C) c.3458G>C (p.Arg1153Thr) c.3311G>C (p.Arg1104Thr) c.3080G>C (p.Arg1027Thr) c.2543G>C (p.Arg848Thr) c.3428G>C (p.Arg1143Thr) n.2221G>C c.3350G>C (p.Arg1117Thr) n.3413G>C c.*903G>C (n.*903G>C) n.4164G>C c.*594G>C (n.*594G>C) c.*1660G>C (n.*1660G>C) n.4289G>C c.2486G>C (p.Arg829Thr) c.3245G>C (p.Arg1082Thr) c.*2950G>C (n.*2950G>C) n.3096G>C c.*3028G>C (n.*3028G>C) n.187G>C c.3335G>C (p.Arg1112Thr) c.3293G>C (p.Arg1098Thr) c.3557G>C (p.Arg1186Thr) c.3479G>C (p.Arg1160Thr) c.3446G>C (p.Arg1149Thr) c.3455G>C (p.Arg1152Thr) c.2465G>C (p.Arg822Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.154585232C>T | CA342634987 | ADAR | c.3322G>A (n.3322G>A) c.3458G>A (p.Arg1153Lys) c.3311G>A (p.Arg1104Lys) c.3080G>A (p.Arg1027Lys) c.2543G>A (p.Arg848Lys) c.3428G>A (p.Arg1143Lys) n.2221G>A c.3350G>A (p.Arg1117Lys) n.3413G>A c.*903G>A (n.*903G>A) n.4164G>A c.*594G>A (n.*594G>A) c.*1660G>A (n.*1660G>A) n.4289G>A c.2486G>A (p.Arg829Lys) c.3245G>A (p.Arg1082Lys) c.*2950G>A (n.*2950G>A) n.3096G>A c.*3028G>A (n.*3028G>A) n.187G>A c.3335G>A (p.Arg1112Lys) c.3293G>A (p.Arg1098Lys) c.3557G>A (p.Arg1186Lys) c.3479G>A (p.Arg1160Lys) c.3446G>A (p.Arg1149Lys) c.3455G>A (p.Arg1152Lys) c.2465G>A (p.Arg822Lys) | |
| 1 | g.154585233T>A | CA342634988 | ADAR | c.3321A>T (n.3321A>T) c.3457A>T (p.Arg1153Ter) c.3310A>T (p.Arg1104Ter) c.3079A>T (p.Arg1027Ter) c.2542A>T (p.Arg848Ter) c.3427A>T (p.Arg1143Ter) n.2220A>T c.3349A>T (p.Arg1117Ter) n.3412A>T c.*902A>T (n.*902A>T) n.4163A>T c.*593A>T (n.*593A>T) c.*1659A>T (n.*1659A>T) n.4288A>T c.2485A>T (p.Arg829Ter) c.3244A>T (p.Arg1082Ter) c.*2949A>T (n.*2949A>T) n.3095A>T c.*3027A>T (n.*3027A>T) n.186A>T c.3334A>T (p.Arg1112Ter) c.3292A>T (p.Arg1098Ter) c.3556A>T (p.Arg1186Ter) c.3478A>T (p.Arg1160Ter) c.3445A>T (p.Arg1149Ter) c.3454A>T (p.Arg1152Ter) c.2464A>T (p.Arg822Ter) | |
| 1 | g.154585233T>C | CA342634989 | ADAR | c.3321A>G (n.3321A>G) c.3457A>G (p.Arg1153Gly) c.3310A>G (p.Arg1104Gly) c.3079A>G (p.Arg1027Gly) c.2542A>G (p.Arg848Gly) c.3427A>G (p.Arg1143Gly) n.2220A>G c.3349A>G (p.Arg1117Gly) n.3412A>G c.*902A>G (n.*902A>G) n.4163A>G c.*593A>G (n.*593A>G) c.*1659A>G (n.*1659A>G) n.4288A>G c.2485A>G (p.Arg829Gly) c.3244A>G (p.Arg1082Gly) c.*2949A>G (n.*2949A>G) n.3095A>G c.*3027A>G (n.*3027A>G) n.186A>G c.3334A>G (p.Arg1112Gly) c.3292A>G (p.Arg1098Gly) c.3556A>G (p.Arg1186Gly) c.3478A>G (p.Arg1160Gly) c.3445A>G (p.Arg1149Gly) c.3454A>G (p.Arg1152Gly) c.2464A>G (p.Arg822Gly) | |
| 1 | g.154585233T>G | CA420974459 | ADAR | c.3321A>C (n.3321A>C) c.3457A>C (p.Arg1153=) c.3310A>C (p.Arg1104=) c.3079A>C (p.Arg1027=) c.2542A>C (p.Arg848=) c.3427A>C (p.Arg1143=) n.2220A>C c.3349A>C (p.Arg1117=) n.3412A>C c.*902A>C (n.*902A>C) n.4163A>C c.*593A>C (n.*593A>C) c.*1659A>C (n.*1659A>C) n.4288A>C c.2485A>C (p.Arg829=) c.3244A>C (p.Arg1082=) c.*2949A>C (n.*2949A>C) n.3095A>C c.*3027A>C (n.*3027A>C) n.186A>C c.3334A>C (p.Arg1112=) c.3292A>C (p.Arg1098=) c.3556A>C (p.Arg1186=) c.3478A>C (p.Arg1160=) c.3445A>C (p.Arg1149=) c.3454A>C (p.Arg1152=) c.2464A>C (p.Arg822=) | |
| 1 | g.154585234G>A | CA420974460 | ADAR | c.3320C>T (n.3320C>T) c.3456C>T (p.Thr1152=) c.3309C>T (p.Thr1103=) c.3078C>T (p.Thr1026=) c.2541C>T (p.Thr847=) c.3426C>T (p.Thr1142=) n.2219C>T c.3348C>T (p.Thr1116=) n.3411C>T c.*901C>T (n.*901C>T) n.4162C>T c.*592C>T (n.*592C>T) c.*1658C>T (n.*1658C>T) n.4287C>T c.2484C>T (p.Thr828=) c.3243C>T (p.Thr1081=) c.*2948C>T (n.*2948C>T) n.3094C>T c.*3026C>T (n.*3026C>T) n.185C>T c.3333C>T (p.Thr1111=) c.3291C>T (p.Thr1097=) c.3555C>T (p.Thr1185=) c.3477C>T (p.Thr1159=) c.3444C>T (p.Thr1148=) c.3453C>T (p.Thr1151=) c.2463C>T (p.Thr821=) | |
| 1 | g.154585234G>C | CA420974461 | ADAR | c.3320C>G (n.3320C>G) c.3456C>G (p.Thr1152=) c.3309C>G (p.Thr1103=) c.3078C>G (p.Thr1026=) c.2541C>G (p.Thr847=) c.3426C>G (p.Thr1142=) n.2219C>G c.3348C>G (p.Thr1116=) n.3411C>G c.*901C>G (n.*901C>G) n.4162C>G c.*592C>G (n.*592C>G) c.*1658C>G (n.*1658C>G) n.4287C>G c.2484C>G (p.Thr828=) c.3243C>G (p.Thr1081=) c.*2948C>G (n.*2948C>G) n.3094C>G c.*3026C>G (n.*3026C>G) n.185C>G c.3333C>G (p.Thr1111=) c.3291C>G (p.Thr1097=) c.3555C>G (p.Thr1185=) c.3477C>G (p.Thr1159=) c.3444C>G (p.Thr1148=) c.3453C>G (p.Thr1151=) c.2463C>G (p.Thr821=) | |
| 1 | g.154585234G>T | CA420974462 | ADAR | c.3320C>A (n.3320C>A) c.3456C>A (p.Thr1152=) c.3309C>A (p.Thr1103=) c.3078C>A (p.Thr1026=) c.2541C>A (p.Thr847=) c.3426C>A (p.Thr1142=) n.2219C>A c.3348C>A (p.Thr1116=) n.3411C>A c.*901C>A (n.*901C>A) n.4162C>A c.*592C>A (n.*592C>A) c.*1658C>A (n.*1658C>A) n.4287C>A c.2484C>A (p.Thr828=) c.3243C>A (p.Thr1081=) c.*2948C>A (n.*2948C>A) n.3094C>A c.*3026C>A (n.*3026C>A) n.185C>A c.3333C>A (p.Thr1111=) c.3291C>A (p.Thr1097=) c.3555C>A (p.Thr1185=) c.3477C>A (p.Thr1159=) c.3444C>A (p.Thr1148=) c.3453C>A (p.Thr1151=) c.2463C>A (p.Thr821=) | |
| 1 | g.154585235G>A | CA342634990 | ADAR | c.3319C>T (n.3319C>T) c.3455C>T (p.Thr1152Ile) c.3308C>T (p.Thr1103Ile) c.3077C>T (p.Thr1026Ile) c.2540C>T (p.Thr847Ile) c.3425C>T (p.Thr1142Ile) n.2218C>T c.3347C>T (p.Thr1116Ile) n.3410C>T c.*900C>T (n.*900C>T) n.4161C>T c.*591C>T (n.*591C>T) c.*1657C>T (n.*1657C>T) n.4286C>T c.2483C>T (p.Thr828Ile) c.3242C>T (p.Thr1081Ile) c.*2947C>T (n.*2947C>T) n.3093C>T c.*3025C>T (n.*3025C>T) n.184C>T c.3332C>T (p.Thr1111Ile) c.3290C>T (p.Thr1097Ile) c.3554C>T (p.Thr1185Ile) c.3476C>T (p.Thr1159Ile) c.3443C>T (p.Thr1148Ile) c.3452C>T (p.Thr1151Ile) c.2462C>T (p.Thr821Ile) | |
| 1 | g.154585235G>C | CA342634991 | ADAR | c.3319C>G (n.3319C>G) c.3455C>G (p.Thr1152Ser) c.3308C>G (p.Thr1103Ser) c.3077C>G (p.Thr1026Ser) c.2540C>G (p.Thr847Ser) c.3425C>G (p.Thr1142Ser) n.2218C>G c.3347C>G (p.Thr1116Ser) n.3410C>G c.*900C>G (n.*900C>G) n.4161C>G c.*591C>G (n.*591C>G) c.*1657C>G (n.*1657C>G) n.4286C>G c.2483C>G (p.Thr828Ser) c.3242C>G (p.Thr1081Ser) c.*2947C>G (n.*2947C>G) n.3093C>G c.*3025C>G (n.*3025C>G) n.184C>G c.3332C>G (p.Thr1111Ser) c.3290C>G (p.Thr1097Ser) c.3554C>G (p.Thr1185Ser) c.3476C>G (p.Thr1159Ser) c.3443C>G (p.Thr1148Ser) c.3452C>G (p.Thr1151Ser) c.2462C>G (p.Thr821Ser) | |
| 1 | g.154585235G>T | CA342634992 | ADAR | c.3319C>A (n.3319C>A) c.3455C>A (p.Thr1152Asn) c.3308C>A (p.Thr1103Asn) c.3077C>A (p.Thr1026Asn) c.2540C>A (p.Thr847Asn) c.3425C>A (p.Thr1142Asn) n.2218C>A c.3347C>A (p.Thr1116Asn) n.3410C>A c.*900C>A (n.*900C>A) n.4161C>A c.*591C>A (n.*591C>A) c.*1657C>A (n.*1657C>A) n.4286C>A c.2483C>A (p.Thr828Asn) c.3242C>A (p.Thr1081Asn) c.*2947C>A (n.*2947C>A) n.3093C>A c.*3025C>A (n.*3025C>A) n.184C>A c.3332C>A (p.Thr1111Asn) c.3290C>A (p.Thr1097Asn) c.3554C>A (p.Thr1185Asn) c.3476C>A (p.Thr1159Asn) c.3443C>A (p.Thr1148Asn) c.3452C>A (p.Thr1151Asn) c.2462C>A (p.Thr821Asn) | |
| 1 | g.154585236T>A | CA342634993 | ADAR | c.3318A>T (n.3318A>T) c.3454A>T (p.Thr1152Ser) c.3307A>T (p.Thr1103Ser) c.3076A>T (p.Thr1026Ser) c.2539A>T (p.Thr847Ser) c.3424A>T (p.Thr1142Ser) n.2217A>T c.3346A>T (p.Thr1116Ser) n.3409A>T c.*899A>T (n.*899A>T) n.4160A>T c.*590A>T (n.*590A>T) c.*1656A>T (n.*1656A>T) n.4285A>T c.2482A>T (p.Thr828Ser) c.3241A>T (p.Thr1081Ser) c.*2946A>T (n.*2946A>T) n.3092A>T c.*3024A>T (n.*3024A>T) n.183A>T c.3331A>T (p.Thr1111Ser) c.3289A>T (p.Thr1097Ser) c.3553A>T (p.Thr1185Ser) c.3475A>T (p.Thr1159Ser) c.3442A>T (p.Thr1148Ser) c.3451A>T (p.Thr1151Ser) c.2461A>T (p.Thr821Ser) | |
| 1 | g.154585236T>C | CA342634994 | ADAR | c.3318A>G (n.3318A>G) c.3454A>G (p.Thr1152Ala) c.3307A>G (p.Thr1103Ala) c.3076A>G (p.Thr1026Ala) c.2539A>G (p.Thr847Ala) c.3424A>G (p.Thr1142Ala) n.2217A>G c.3346A>G (p.Thr1116Ala) n.3409A>G c.*899A>G (n.*899A>G) n.4160A>G c.*590A>G (n.*590A>G) c.*1656A>G (n.*1656A>G) n.4285A>G c.2482A>G (p.Thr828Ala) c.3241A>G (p.Thr1081Ala) c.*2946A>G (n.*2946A>G) n.3092A>G c.*3024A>G (n.*3024A>G) n.183A>G c.3331A>G (p.Thr1111Ala) c.3289A>G (p.Thr1097Ala) c.3553A>G (p.Thr1185Ala) c.3475A>G (p.Thr1159Ala) c.3442A>G (p.Thr1148Ala) c.3451A>G (p.Thr1151Ala) c.2461A>G (p.Thr821Ala) | |
| 1 | g.154585236T>G | CA342634995 | ADAR | c.3318A>C (n.3318A>C) c.3454A>C (p.Thr1152Pro) c.3307A>C (p.Thr1103Pro) c.3076A>C (p.Thr1026Pro) c.2539A>C (p.Thr847Pro) c.3424A>C (p.Thr1142Pro) n.2217A>C c.3346A>C (p.Thr1116Pro) n.3409A>C c.*899A>C (n.*899A>C) n.4160A>C c.*590A>C (n.*590A>C) c.*1656A>C (n.*1656A>C) n.4285A>C c.2482A>C (p.Thr828Pro) c.3241A>C (p.Thr1081Pro) c.*2946A>C (n.*2946A>C) n.3092A>C c.*3024A>C (n.*3024A>C) n.183A>C c.3331A>C (p.Thr1111Pro) c.3289A>C (p.Thr1097Pro) c.3553A>C (p.Thr1185Pro) c.3475A>C (p.Thr1159Pro) c.3442A>C (p.Thr1148Pro) c.3451A>C (p.Thr1151Pro) c.2461A>C (p.Thr821Pro) | |
| 1 | g.154585237A>C | CA420974466 | ADAR | c.3317T>G (n.3317T>G) c.3453T>G (p.Gly1151=) c.3306T>G (p.Gly1102=) c.3075T>G (p.Gly1025=) c.2538T>G (p.Gly846=) c.3423T>G (p.Gly1141=) n.2216T>G c.3345T>G (p.Gly1115=) n.3408T>G c.*898T>G (n.*898T>G) n.4159T>G c.*589T>G (n.*589T>G) c.*1655T>G (n.*1655T>G) n.4284T>G c.2481T>G (p.Gly827=) c.3240T>G (p.Gly1080=) c.*2945T>G (n.*2945T>G) n.3091T>G c.*3023T>G (n.*3023T>G) n.182T>G c.3330T>G (p.Gly1110=) c.3288T>G (p.Gly1096=) c.3552T>G (p.Gly1184=) c.3474T>G (p.Gly1158=) c.3441T>G (p.Gly1147=) c.3450T>G (p.Gly1150=) c.2460T>G (p.Gly820=) | |
| 1 | g.154585237A>G | CA420974467 | ADAR | c.3317T>C (n.3317T>C) c.3453T>C (p.Gly1151=) c.3306T>C (p.Gly1102=) c.3075T>C (p.Gly1025=) c.2538T>C (p.Gly846=) c.3423T>C (p.Gly1141=) n.2216T>C c.3345T>C (p.Gly1115=) n.3408T>C c.*898T>C (n.*898T>C) n.4159T>C c.*589T>C (n.*589T>C) c.*1655T>C (n.*1655T>C) n.4284T>C c.2481T>C (p.Gly827=) c.3240T>C (p.Gly1080=) c.*2945T>C (n.*2945T>C) n.3091T>C c.*3023T>C (n.*3023T>C) n.182T>C c.3330T>C (p.Gly1110=) c.3288T>C (p.Gly1096=) c.3552T>C (p.Gly1184=) c.3474T>C (p.Gly1158=) c.3441T>C (p.Gly1147=) c.3450T>C (p.Gly1150=) c.2460T>C (p.Gly820=) |