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 |
|---|---|---|---|---|---|
| 8 | g.144511960_144512152del | CA2580078780 | RECQL4 | c.3228_3344del c.245_361del n.49+173_50-171del c.474_590del c.2157_2273del c.3303_3419del c.3207_3323del c.3111_3227del c.3105_3221del c.3030_3146del c.2166_2282del n.3344_3353-171del n.3283_3399del n.3176_3292del c.3393_3509del c.3318_3434del c.3297_3413del c.3195_3311del c.2256_2372del n.3430_3439-171del n.3369_3485del n.3260_3376del n.3123_3239del n.2925_3041del | ClinVar |
| 8 | g.144512037_144512038insGGGCTCCTGCTGCTCC | CA4947832 | RECQL4 | c.3278_3279insGCCCGGAGCAGCAGGA (p.Asp1093GlufsTer7) c.295_296insGCCCGGAGCAGCAGGA n.50-237_50-236insGCCCGGAGCAGCAGGA c.524_525insGCCCGGAGCAGCAGGA (p.Asp175GlufsTer7) c.2207_2208insGCCCGGAGCAGCAGGA (p.Asp736GlufsTer7) c.3353_3354insGCCCGGAGCAGCAGGA (p.Asp1118GlufsTer7) c.3257_3258insGCCCGGAGCAGCAGGA (p.Asp1086GlufsTer7) c.3161_3162insGCCCGGAGCAGCAGGA (p.Asp1054GlufsTer7) c.3155_3156insGCCCGGAGCAGCAGGA (p.Asp1052GlufsTer7) c.3080_3081insGCCCGGAGCAGCAGGA (p.Asp1027GlufsTer7) c.2216_2217insGCCCGGAGCAGCAGGA (p.Asp739GlufsTer7) n.3352+118_3352+119insGCCCGGAGCAGCAGGA n.3333_3334insGCCCGGAGCAGCAGGA n.3226_3227insGCCCGGAGCAGCAGGA c.3443_3444insGCCCGGAGCAGCAGGA (p.Asp1148GlufsTer7) c.3368_3369insGCCCGGAGCAGCAGGA (p.Asp1123GlufsTer7) c.3347_3348insGCCCGGAGCAGCAGGA (p.Asp1116GlufsTer7) c.3245_3246insGCCCGGAGCAGCAGGA (p.Asp1082GlufsTer7) c.2306_2307insGCCCGGAGCAGCAGGA (p.Asp769GlufsTer7) n.3438+118_3438+119insGCCCGGAGCAGCAGGA n.3419_3420insGCCCGGAGCAGCAGGA n.3310_3311insGCCCGGAGCAGCAGGA n.3173_3174insGCCCGGAGCAGCAGGA n.2975_2976insGCCCGGAGCAGCAGGA | dbSNP ExAC gnomAD v2 |
| 8 | g.144512033G>A | CA144340 | RECQL4 | c.3271C>T (p.Gln1091Ter) c.288C>T n.50-244C>T c.517C>T (p.Gln173Ter) c.2200C>T (p.Gln734Ter) c.3346C>T (p.Gln1116Ter) c.3250C>T (p.Gln1084Ter) c.3154C>T (p.Gln1052Ter) c.3148C>T (p.Gln1050Ter) c.3073C>T (p.Gln1025Ter) c.2209C>T (p.Gln737Ter) n.3352+111C>T n.3326C>T n.3219C>T c.3436C>T (p.Gln1146Ter) c.3361C>T (p.Gln1121Ter) c.3340C>T (p.Gln1114Ter) c.3238C>T (p.Gln1080Ter) c.2299C>T (p.Gln767Ter) n.3438+111C>T n.3412C>T n.3303C>T n.3166C>T n.2968C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.144512033G>C | CA372669102 | RECQL4 | c.3271C>G (p.Gln1091Glu) c.288C>G n.50-244C>G c.517C>G (p.Gln173Glu) c.2200C>G (p.Gln734Glu) c.3346C>G (p.Gln1116Glu) c.3250C>G (p.Gln1084Glu) c.3154C>G (p.Gln1052Glu) c.3148C>G (p.Gln1050Glu) c.3073C>G (p.Gln1025Glu) c.2209C>G (p.Gln737Glu) n.3352+111C>G n.3326C>G n.3219C>G c.3436C>G (p.Gln1146Glu) c.3361C>G (p.Gln1121Glu) c.3340C>G (p.Gln1114Glu) c.3238C>G (p.Gln1080Glu) c.2299C>G (p.Gln767Glu) n.3438+111C>G n.3412C>G n.3303C>G n.3166C>G n.2968C>G | |
| 8 | g.144512033G= | CA1826365555 | RECQL4 | c.3271C= (p.Gln1091=) c.288C= n.50-244C= c.517C= (p.Gln173=) c.2200C= (p.Gln734=) c.3346C= (p.Gln1116=) c.3250C= (p.Gln1084=) c.3154C= (p.Gln1052=) c.3148C= (p.Gln1050=) c.3073C= (p.Gln1025=) c.2209C= (p.Gln737=) n.3352+111C= n.3326C= n.3219C= c.3436C= (p.Gln1146=) c.3361C= (p.Gln1121=) c.3340C= (p.Gln1114=) c.3238C= (p.Gln1080=) c.2299C= (p.Gln767=) n.3438+111C= n.3412C= n.3303C= n.3166C= n.2968C= | |
| 8 | g.144512033G>T | CA372669106 | RECQL4 | c.3271C>A (p.Gln1091Lys) c.288C>A n.50-244C>A c.517C>A (p.Gln173Lys) c.2200C>A (p.Gln734Lys) c.3346C>A (p.Gln1116Lys) c.3250C>A (p.Gln1084Lys) c.3154C>A (p.Gln1052Lys) c.3148C>A (p.Gln1050Lys) c.3073C>A (p.Gln1025Lys) c.2209C>A (p.Gln737Lys) n.3352+111C>A n.3326C>A n.3219C>A c.3436C>A (p.Gln1146Lys) c.3361C>A (p.Gln1121Lys) c.3340C>A (p.Gln1114Lys) c.3238C>A (p.Gln1080Lys) c.2299C>A (p.Gln767Lys) n.3438+111C>A n.3412C>A n.3303C>A n.3166C>A n.2968C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.144512034del | CA2695210429 | RECQL4 | c.3270del (p.Glu1090AspfsTer?) c.287del n.50-245del c.516del (p.Glu172AspfsTer?) c.2199del (p.Glu733AspfsTer?) c.3345del (p.Glu1115AspfsTer?) c.3249del (p.Glu1083AspfsTer?) c.3153del (p.Glu1051AspfsTer?) c.3147del (p.Glu1049AspfsTer?) c.3072del (p.Glu1024AspfsTer?) c.2208del (p.Glu736AspfsTer?) n.3352+110del n.3325del n.3218del c.3435del (p.Glu1145AspfsTer?) c.3360del (p.Glu1120AspfsTer?) c.3339del (p.Glu1113AspfsTer?) c.3237del (p.Glu1079AspfsTer?) c.2298del (p.Glu766AspfsTer?) n.3438+110del n.3411del n.3302del n.3165del n.2967del | |
| 8 | g.144512034C>A | CA372669120 | RECQL4 | c.3270G>T (p.Glu1090Asp) c.287G>T n.50-245G>T c.516G>T (p.Glu172Asp) c.2199G>T (p.Glu733Asp) c.3345G>T (p.Glu1115Asp) c.3249G>T (p.Glu1083Asp) c.3153G>T (p.Glu1051Asp) c.3147G>T (p.Glu1049Asp) c.3072G>T (p.Glu1024Asp) c.2208G>T (p.Glu736Asp) n.3352+110G>T n.3325G>T n.3218G>T c.3435G>T (p.Glu1145Asp) c.3360G>T (p.Glu1120Asp) c.3339G>T (p.Glu1113Asp) c.3237G>T (p.Glu1079Asp) c.2298G>T (p.Glu766Asp) n.3438+110G>T n.3411G>T n.3302G>T n.3165G>T n.2967G>T | dbSNP |
| 8 | g.144512034C>G | CA372669116 | RECQL4 | c.3270G>C (p.Glu1090Asp) c.287G>C n.50-245G>C c.516G>C (p.Glu172Asp) c.2199G>C (p.Glu733Asp) c.3345G>C (p.Glu1115Asp) c.3249G>C (p.Glu1083Asp) c.3153G>C (p.Glu1051Asp) c.3147G>C (p.Glu1049Asp) c.3072G>C (p.Glu1024Asp) c.2208G>C (p.Glu736Asp) n.3352+110G>C n.3325G>C n.3218G>C c.3435G>C (p.Glu1145Asp) c.3360G>C (p.Glu1120Asp) c.3339G>C (p.Glu1113Asp) c.3237G>C (p.Glu1079Asp) c.2298G>C (p.Glu766Asp) n.3438+110G>C n.3411G>C n.3302G>C n.3165G>C n.2967G>C | |
| 8 | g.144512034C>T | CA463565987 | RECQL4 | c.3270G>A (p.Glu1090=) c.287G>A n.50-245G>A c.516G>A (p.Glu172=) c.2199G>A (p.Glu733=) c.3345G>A (p.Glu1115=) c.3249G>A (p.Glu1083=) c.3153G>A (p.Glu1051=) c.3147G>A (p.Glu1049=) c.3072G>A (p.Glu1024=) c.2208G>A (p.Glu736=) n.3352+110G>A n.3325G>A n.3218G>A c.3435G>A (p.Glu1145=) c.3360G>A (p.Glu1120=) c.3339G>A (p.Glu1113=) c.3237G>A (p.Glu1079=) c.2298G>A (p.Glu766=) n.3438+110G>A n.3411G>A n.3302G>A n.3165G>A n.2967G>A | ClinVar gnomAD v4 |
| 8 | g.144512035T>A | CA372669126 | RECQL4 | c.3269A>T (p.Glu1090Val) c.286A>T n.50-246A>T c.515A>T (p.Glu172Val) c.2198A>T (p.Glu733Val) c.3344A>T (p.Glu1115Val) c.3248A>T (p.Glu1083Val) c.3152A>T (p.Glu1051Val) c.3146A>T (p.Glu1049Val) c.3071A>T (p.Glu1024Val) c.2207A>T (p.Glu736Val) n.3352+109A>T n.3324A>T n.3217A>T c.3434A>T (p.Glu1145Val) c.3359A>T (p.Glu1120Val) c.3338A>T (p.Glu1113Val) c.3236A>T (p.Glu1079Val) c.2297A>T (p.Glu766Val) n.3438+109A>T n.3410A>T n.3301A>T n.3164A>T n.2966A>T | dbSNP |
| 8 | g.144512035T>C | CA372669128 | RECQL4 | c.3269A>G (p.Glu1090Gly) c.286A>G n.50-246A>G c.515A>G (p.Glu172Gly) c.2198A>G (p.Glu733Gly) c.3344A>G (p.Glu1115Gly) c.3248A>G (p.Glu1083Gly) c.3152A>G (p.Glu1051Gly) c.3146A>G (p.Glu1049Gly) c.3071A>G (p.Glu1024Gly) c.2207A>G (p.Glu736Gly) n.3352+109A>G n.3324A>G n.3217A>G c.3434A>G (p.Glu1145Gly) c.3359A>G (p.Glu1120Gly) c.3338A>G (p.Glu1113Gly) c.3236A>G (p.Glu1079Gly) c.2297A>G (p.Glu766Gly) n.3438+109A>G n.3410A>G n.3301A>G n.3164A>G n.2966A>G | ClinVar gnomAD v4 |
| 8 | g.144512035T>G | CA372669130 | RECQL4 | c.3269A>C (p.Glu1090Ala) c.286A>C n.50-246A>C c.515A>C (p.Glu172Ala) c.2198A>C (p.Glu733Ala) c.3344A>C (p.Glu1115Ala) c.3248A>C (p.Glu1083Ala) c.3152A>C (p.Glu1051Ala) c.3146A>C (p.Glu1049Ala) c.3071A>C (p.Glu1024Ala) c.2207A>C (p.Glu736Ala) n.3352+109A>C n.3324A>C n.3217A>C c.3434A>C (p.Glu1145Ala) c.3359A>C (p.Glu1120Ala) c.3338A>C (p.Glu1113Ala) c.3236A>C (p.Glu1079Ala) c.2297A>C (p.Glu766Ala) n.3438+109A>C n.3410A>C n.3301A>C n.3164A>C n.2966A>C | |
| 8 | g.144512036C>A | CA372669137 | RECQL4 | c.3268G>T (p.Glu1090Ter) c.285G>T n.50-247G>T c.514G>T (p.Glu172Ter) c.2197G>T (p.Glu733Ter) c.3343G>T (p.Glu1115Ter) c.3247G>T (p.Glu1083Ter) c.3151G>T (p.Glu1051Ter) c.3145G>T (p.Glu1049Ter) c.3070G>T (p.Glu1024Ter) c.2206G>T (p.Glu736Ter) n.3352+108G>T n.3323G>T n.3216G>T c.3433G>T (p.Glu1145Ter) c.3358G>T (p.Glu1120Ter) c.3337G>T (p.Glu1113Ter) c.3235G>T (p.Glu1079Ter) c.2296G>T (p.Glu766Ter) n.3438+108G>T n.3409G>T n.3300G>T n.3163G>T n.2965G>T | |
| 8 | g.144512036C= | CA1826365556 | RECQL4 | c.3268G= (p.Glu1090=) c.285G= n.50-247G= c.514G= (p.Glu172=) c.2197G= (p.Glu733=) c.3343G= (p.Glu1115=) c.3247G= (p.Glu1083=) c.3151G= (p.Glu1051=) c.3145G= (p.Glu1049=) c.3070G= (p.Glu1024=) c.2206G= (p.Glu736=) n.3352+108G= n.3323G= n.3216G= c.3433G= (p.Glu1145=) c.3358G= (p.Glu1120=) c.3337G= (p.Glu1113=) c.3235G= (p.Glu1079=) c.2296G= (p.Glu766=) n.3438+108G= n.3409G= n.3300G= n.3163G= n.2965G= | |
| 8 | g.144512036C>G | CA187679198 | RECQL4 | c.3268G>C (p.Glu1090Gln) c.285G>C n.50-247G>C c.514G>C (p.Glu172Gln) c.2197G>C (p.Glu733Gln) c.3343G>C (p.Glu1115Gln) c.3247G>C (p.Glu1083Gln) c.3151G>C (p.Glu1051Gln) c.3145G>C (p.Glu1049Gln) c.3070G>C (p.Glu1024Gln) c.2206G>C (p.Glu736Gln) n.3352+108G>C n.3323G>C n.3216G>C c.3433G>C (p.Glu1145Gln) c.3358G>C (p.Glu1120Gln) c.3337G>C (p.Glu1113Gln) c.3235G>C (p.Glu1079Gln) c.2296G>C (p.Glu766Gln) n.3438+108G>C n.3409G>C n.3300G>C n.3163G>C n.2965G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.144512036C>T | CA4947836 | RECQL4 | c.3268G>A (p.Glu1090Lys) c.285G>A n.50-247G>A c.514G>A (p.Glu172Lys) c.2197G>A (p.Glu733Lys) c.3343G>A (p.Glu1115Lys) c.3247G>A (p.Glu1083Lys) c.3151G>A (p.Glu1051Lys) c.3145G>A (p.Glu1049Lys) c.3070G>A (p.Glu1024Lys) c.2206G>A (p.Glu736Lys) n.3352+108G>A n.3323G>A n.3216G>A c.3433G>A (p.Glu1145Lys) c.3358G>A (p.Glu1120Lys) c.3337G>A (p.Glu1113Lys) c.3235G>A (p.Glu1079Lys) c.2296G>A (p.Glu766Lys) n.3438+108G>A n.3409G>A n.3300G>A n.3163G>A n.2965G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.144512037C>A | CA463565996 | RECQL4 | c.3267G>T (p.Leu1089=) c.284G>T n.50-248G>T c.513G>T (p.Leu171=) c.2196G>T (p.Leu732=) c.3342G>T (p.Leu1114=) c.3246G>T (p.Leu1082=) c.3150G>T (p.Leu1050=) c.3144G>T (p.Leu1048=) c.3069G>T (p.Leu1023=) c.2205G>T (p.Leu735=) n.3352+107G>T n.3322G>T n.3215G>T c.3432G>T (p.Leu1144=) c.3357G>T (p.Leu1119=) c.3336G>T (p.Leu1112=) c.3234G>T (p.Leu1078=) c.2295G>T (p.Leu765=) n.3438+107G>T n.3408G>T n.3299G>T n.3162G>T n.2964G>T | gnomAD v4 |
| 8 | g.144512037C= | CA1826365557 | RECQL4 | c.3267G= (p.Leu1089=) c.284G= n.50-248G= c.513G= (p.Leu171=) c.2196G= (p.Leu732=) c.3342G= (p.Leu1114=) c.3246G= (p.Leu1082=) c.3150G= (p.Leu1050=) c.3144G= (p.Leu1048=) c.3069G= (p.Leu1023=) c.2205G= (p.Leu735=) n.3352+107G= n.3322G= n.3215G= c.3432G= (p.Leu1144=) c.3357G= (p.Leu1119=) c.3336G= (p.Leu1112=) c.3234G= (p.Leu1078=) c.2295G= (p.Leu765=) n.3438+107G= n.3408G= n.3299G= n.3162G= n.2964G= | |
| 8 | g.144512037C>G | CA463565999 | RECQL4 | c.3267G>C (p.Leu1089=) c.284G>C n.50-248G>C c.513G>C (p.Leu171=) c.2196G>C (p.Leu732=) c.3342G>C (p.Leu1114=) c.3246G>C (p.Leu1082=) c.3150G>C (p.Leu1050=) c.3144G>C (p.Leu1048=) c.3069G>C (p.Leu1023=) c.2205G>C (p.Leu735=) n.3352+107G>C n.3322G>C n.3215G>C c.3432G>C (p.Leu1144=) c.3357G>C (p.Leu1119=) c.3336G>C (p.Leu1112=) c.3234G>C (p.Leu1078=) c.2295G>C (p.Leu765=) n.3438+107G>C n.3408G>C n.3299G>C n.3162G>C n.2964G>C | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.144512037C>T | CA463565994 | RECQL4 | c.3267G>A (p.Leu1089=) c.284G>A n.50-248G>A c.513G>A (p.Leu171=) c.2196G>A (p.Leu732=) c.3342G>A (p.Leu1114=) c.3246G>A (p.Leu1082=) c.3150G>A (p.Leu1050=) c.3144G>A (p.Leu1048=) c.3069G>A (p.Leu1023=) c.2205G>A (p.Leu735=) n.3352+107G>A n.3322G>A n.3215G>A c.3432G>A (p.Leu1144=) c.3357G>A (p.Leu1119=) c.3336G>A (p.Leu1112=) c.3234G>A (p.Leu1078=) c.2295G>A (p.Leu765=) n.3438+107G>A n.3408G>A n.3299G>A n.3162G>A n.2964G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.144512038A= | CA1826365558 | RECQL4 | c.3266T= (p.Leu1089=) c.283T= n.50-249T= c.512T= (p.Leu171=) c.2195T= (p.Leu732=) c.3341T= (p.Leu1114=) c.3245T= (p.Leu1082=) c.3149T= (p.Leu1050=) c.3143T= (p.Leu1048=) c.3068T= (p.Leu1023=) c.2204T= (p.Leu735=) n.3352+106T= n.3321T= n.3214T= c.3431T= (p.Leu1144=) c.3356T= (p.Leu1119=) c.3335T= (p.Leu1112=) c.3233T= (p.Leu1078=) c.2294T= (p.Leu765=) n.3438+106T= n.3407T= n.3298T= n.3161T= n.2963T= | |
| 8 | g.144512038A>C | CA372669147 | RECQL4 | c.3266T>G (p.Leu1089Arg) c.283T>G n.50-249T>G c.512T>G (p.Leu171Arg) c.2195T>G (p.Leu732Arg) c.3341T>G (p.Leu1114Arg) c.3245T>G (p.Leu1082Arg) c.3149T>G (p.Leu1050Arg) c.3143T>G (p.Leu1048Arg) c.3068T>G (p.Leu1023Arg) c.2204T>G (p.Leu735Arg) n.3352+106T>G n.3321T>G n.3214T>G c.3431T>G (p.Leu1144Arg) c.3356T>G (p.Leu1119Arg) c.3335T>G (p.Leu1112Arg) c.3233T>G (p.Leu1078Arg) c.2294T>G (p.Leu765Arg) n.3438+106T>G n.3407T>G n.3298T>G n.3161T>G n.2963T>G | |
| 8 | g.144512038A>G | CA372669150 | RECQL4 | c.3266T>C (p.Leu1089Pro) c.283T>C n.50-249T>C c.512T>C (p.Leu171Pro) c.2195T>C (p.Leu732Pro) c.3341T>C (p.Leu1114Pro) c.3245T>C (p.Leu1082Pro) c.3149T>C (p.Leu1050Pro) c.3143T>C (p.Leu1048Pro) c.3068T>C (p.Leu1023Pro) c.2204T>C (p.Leu735Pro) n.3352+106T>C n.3321T>C n.3214T>C c.3431T>C (p.Leu1144Pro) c.3356T>C (p.Leu1119Pro) c.3335T>C (p.Leu1112Pro) c.3233T>C (p.Leu1078Pro) c.2294T>C (p.Leu765Pro) n.3438+106T>C n.3407T>C n.3298T>C n.3161T>C n.2963T>C | dbSNP |
| 8 | g.144512038A>T | CA372669153 | RECQL4 | c.3266T>A (p.Leu1089Gln) c.283T>A n.50-249T>A c.512T>A (p.Leu171Gln) c.2195T>A (p.Leu732Gln) c.3341T>A (p.Leu1114Gln) c.3245T>A (p.Leu1082Gln) c.3149T>A (p.Leu1050Gln) c.3143T>A (p.Leu1048Gln) c.3068T>A (p.Leu1023Gln) c.2204T>A (p.Leu735Gln) n.3352+106T>A n.3321T>A n.3214T>A c.3431T>A (p.Leu1144Gln) c.3356T>A (p.Leu1119Gln) c.3335T>A (p.Leu1112Gln) c.3233T>A (p.Leu1078Gln) c.2294T>A (p.Leu765Gln) n.3438+106T>A n.3407T>A n.3298T>A n.3161T>A n.2963T>A | gnomAD v4 |
| 8 | g.144512039G>A | CA463566000 | RECQL4 | c.3265C>T (p.Leu1089=) c.282C>T n.50-250C>T c.511C>T (p.Leu171=) c.2194C>T (p.Leu732=) c.3340C>T (p.Leu1114=) c.3244C>T (p.Leu1082=) c.3148C>T (p.Leu1050=) c.3142C>T (p.Leu1048=) c.3067C>T (p.Leu1023=) c.2203C>T (p.Leu735=) n.3352+105C>T n.3320C>T n.3213C>T c.3430C>T (p.Leu1144=) c.3355C>T (p.Leu1119=) c.3334C>T (p.Leu1112=) c.3232C>T (p.Leu1078=) c.2293C>T (p.Leu765=) n.3438+105C>T n.3406C>T n.3297C>T n.3160C>T n.2962C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.144512039G>C | CA372669156 | RECQL4 | c.3265C>G (p.Leu1089Val) c.282C>G n.50-250C>G c.511C>G (p.Leu171Val) c.2194C>G (p.Leu732Val) c.3340C>G (p.Leu1114Val) c.3244C>G (p.Leu1082Val) c.3148C>G (p.Leu1050Val) c.3142C>G (p.Leu1048Val) c.3067C>G (p.Leu1023Val) c.2203C>G (p.Leu735Val) n.3352+105C>G n.3320C>G n.3213C>G c.3430C>G (p.Leu1144Val) c.3355C>G (p.Leu1119Val) c.3334C>G (p.Leu1112Val) c.3232C>G (p.Leu1078Val) c.2293C>G (p.Leu765Val) n.3438+105C>G n.3406C>G n.3297C>G n.3160C>G n.2962C>G | ClinVar dbSNP |
| 8 | g.144512039G= | CA1826365559 | RECQL4 | c.3265C= (p.Leu1089=) c.282C= n.50-250C= c.511C= (p.Leu171=) c.2194C= (p.Leu732=) c.3340C= (p.Leu1114=) c.3244C= (p.Leu1082=) c.3148C= (p.Leu1050=) c.3142C= (p.Leu1048=) c.3067C= (p.Leu1023=) c.2203C= (p.Leu735=) n.3352+105C= n.3320C= n.3213C= c.3430C= (p.Leu1144=) c.3355C= (p.Leu1119=) c.3334C= (p.Leu1112=) c.3232C= (p.Leu1078=) c.2293C= (p.Leu765=) n.3438+105C= n.3406C= n.3297C= n.3160C= n.2962C= | |
| 8 | g.144512039G>T | CA372669158 | RECQL4 | c.3265C>A (p.Leu1089Met) c.282C>A n.50-250C>A c.511C>A (p.Leu171Met) c.2194C>A (p.Leu732Met) c.3340C>A (p.Leu1114Met) c.3244C>A (p.Leu1082Met) c.3148C>A (p.Leu1050Met) c.3142C>A (p.Leu1048Met) c.3067C>A (p.Leu1023Met) c.2203C>A (p.Leu735Met) n.3352+105C>A n.3320C>A n.3213C>A c.3430C>A (p.Leu1144Met) c.3355C>A (p.Leu1119Met) c.3334C>A (p.Leu1112Met) c.3232C>A (p.Leu1078Met) c.2293C>A (p.Leu765Met) n.3438+105C>A n.3406C>A n.3297C>A n.3160C>A n.2962C>A | |
| 8 | g.144512040del | CA2499219175 | RECQL4 | c.3265del (p.Leu1089TrpfsTer?) c.282del n.50-250del c.511del (p.Leu171TrpfsTer?) c.2194del (p.Leu732TrpfsTer?) c.3340del (p.Leu1114TrpfsTer?) c.3244del (p.Leu1082TrpfsTer?) c.3148del (p.Leu1050TrpfsTer?) c.3142del (p.Leu1048TrpfsTer?) c.3067del (p.Leu1023TrpfsTer?) c.2203del (p.Leu735TrpfsTer?) n.3352+105del n.3320del n.3213del c.3430del (p.Leu1144TrpfsTer?) c.3355del (p.Leu1119TrpfsTer?) c.3334del (p.Leu1112TrpfsTer?) c.3232del (p.Leu1078TrpfsTer?) c.2293del (p.Leu765TrpfsTer?) n.3438+105del n.3406del n.3297del n.3160del n.2962del | ClinVar dbSNP |
| 8 | g.144512040G>A | CA463566001 | RECQL4 | c.3264C>T (p.Cys1088=) c.281C>T n.50-251C>T c.510C>T (p.Cys170=) c.2193C>T (p.Cys731=) c.3339C>T (p.Cys1113=) c.3243C>T (p.Cys1081=) c.3147C>T (p.Cys1049=) c.3141C>T (p.Cys1047=) c.3066C>T (p.Cys1022=) c.2202C>T (p.Cys734=) n.3352+104C>T n.3319C>T n.3212C>T c.3429C>T (p.Cys1143=) c.3354C>T (p.Cys1118=) c.3333C>T (p.Cys1111=) c.3231C>T (p.Cys1077=) c.2292C>T (p.Cys764=) n.3438+104C>T n.3405C>T n.3296C>T n.3159C>T n.2961C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.144512040G>C | CA372669160 | RECQL4 | c.3264C>G (p.Cys1088Trp) c.281C>G n.50-251C>G c.510C>G (p.Cys170Trp) c.2193C>G (p.Cys731Trp) c.3339C>G (p.Cys1113Trp) c.3243C>G (p.Cys1081Trp) c.3147C>G (p.Cys1049Trp) c.3141C>G (p.Cys1047Trp) c.3066C>G (p.Cys1022Trp) c.2202C>G (p.Cys734Trp) n.3352+104C>G n.3319C>G n.3212C>G c.3429C>G (p.Cys1143Trp) c.3354C>G (p.Cys1118Trp) c.3333C>G (p.Cys1111Trp) c.3231C>G (p.Cys1077Trp) c.2292C>G (p.Cys764Trp) n.3438+104C>G n.3405C>G n.3296C>G n.3159C>G n.2961C>G | |
| 8 | g.144512040G= | CA1826365560 | RECQL4 | c.3264C= (p.Cys1088=) c.281C= n.50-251C= c.510C= (p.Cys170=) c.2193C= (p.Cys731=) c.3339C= (p.Cys1113=) c.3243C= (p.Cys1081=) c.3147C= (p.Cys1049=) c.3141C= (p.Cys1047=) c.3066C= (p.Cys1022=) c.2202C= (p.Cys734=) n.3352+104C= n.3319C= n.3212C= c.3429C= (p.Cys1143=) c.3354C= (p.Cys1118=) c.3333C= (p.Cys1111=) c.3231C= (p.Cys1077=) c.2292C= (p.Cys764=) n.3438+104C= n.3405C= n.3296C= n.3159C= n.2961C= | |
| 8 | g.144512040G>T | CA372669165 | RECQL4 | c.3264C>A (p.Cys1088Ter) c.281C>A n.50-251C>A c.510C>A (p.Cys170Ter) c.2193C>A (p.Cys731Ter) c.3339C>A (p.Cys1113Ter) c.3243C>A (p.Cys1081Ter) c.3147C>A (p.Cys1049Ter) c.3141C>A (p.Cys1047Ter) c.3066C>A (p.Cys1022Ter) c.2202C>A (p.Cys734Ter) n.3352+104C>A n.3319C>A n.3212C>A c.3429C>A (p.Cys1143Ter) c.3354C>A (p.Cys1118Ter) c.3333C>A (p.Cys1111Ter) c.3231C>A (p.Cys1077Ter) c.2292C>A (p.Cys764Ter) n.3438+104C>A n.3405C>A n.3296C>A n.3159C>A n.2961C>A | |
| 8 | g.144512041C>A | CA372669173 | RECQL4 | c.3263G>T (p.Cys1088Phe) c.280G>T n.50-252G>T c.509G>T (p.Cys170Phe) c.2192G>T (p.Cys731Phe) c.3338G>T (p.Cys1113Phe) c.3242G>T (p.Cys1081Phe) c.3146G>T (p.Cys1049Phe) c.3140G>T (p.Cys1047Phe) c.3065G>T (p.Cys1022Phe) c.2201G>T (p.Cys734Phe) n.3352+103G>T n.3318G>T n.3211G>T c.3428G>T (p.Cys1143Phe) c.3353G>T (p.Cys1118Phe) c.3332G>T (p.Cys1111Phe) c.3230G>T (p.Cys1077Phe) c.2291G>T (p.Cys764Phe) n.3438+103G>T n.3404G>T n.3295G>T n.3158G>T n.2960G>T | ClinVar dbSNP gnomAD v4 |
| 8 | g.144512041C= | CA1826365561 | RECQL4 | c.3263G= (p.Cys1088=) c.280G= n.50-252G= c.509G= (p.Cys170=) c.2192G= (p.Cys731=) c.3338G= (p.Cys1113=) c.3242G= (p.Cys1081=) c.3146G= (p.Cys1049=) c.3140G= (p.Cys1047=) c.3065G= (p.Cys1022=) c.2201G= (p.Cys734=) n.3352+103G= n.3318G= n.3211G= c.3428G= (p.Cys1143=) c.3353G= (p.Cys1118=) c.3332G= (p.Cys1111=) c.3230G= (p.Cys1077=) c.2291G= (p.Cys764=) n.3438+103G= n.3404G= n.3295G= n.3158G= n.2960G= | |
| 8 | g.144512041C>G | CA4947837 | RECQL4 | c.3263G>C (p.Cys1088Ser) c.280G>C n.50-252G>C c.509G>C (p.Cys170Ser) c.2192G>C (p.Cys731Ser) c.3338G>C (p.Cys1113Ser) c.3242G>C (p.Cys1081Ser) c.3146G>C (p.Cys1049Ser) c.3140G>C (p.Cys1047Ser) c.3065G>C (p.Cys1022Ser) c.2201G>C (p.Cys734Ser) n.3352+103G>C n.3318G>C n.3211G>C c.3428G>C (p.Cys1143Ser) c.3353G>C (p.Cys1118Ser) c.3332G>C (p.Cys1111Ser) c.3230G>C (p.Cys1077Ser) c.2291G>C (p.Cys764Ser) n.3438+103G>C n.3404G>C n.3295G>C n.3158G>C n.2960G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.144512041C>T | CA372669172 | RECQL4 | c.3263G>A (p.Cys1088Tyr) c.280G>A n.50-252G>A c.509G>A (p.Cys170Tyr) c.2192G>A (p.Cys731Tyr) c.3338G>A (p.Cys1113Tyr) c.3242G>A (p.Cys1081Tyr) c.3146G>A (p.Cys1049Tyr) c.3140G>A (p.Cys1047Tyr) c.3065G>A (p.Cys1022Tyr) c.2201G>A (p.Cys734Tyr) n.3352+103G>A n.3318G>A n.3211G>A c.3428G>A (p.Cys1143Tyr) c.3353G>A (p.Cys1118Tyr) c.3332G>A (p.Cys1111Tyr) c.3230G>A (p.Cys1077Tyr) c.2291G>A (p.Cys764Tyr) n.3438+103G>A n.3404G>A n.3295G>A n.3158G>A n.2960G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.144512042del | CA2573143050 | RECQL4 | c.3262del (p.Cys1088AlafsTer?) c.279del n.50-253del c.508del (p.Cys170AlafsTer?) c.2191del (p.Cys731AlafsTer?) c.3337del (p.Cys1113AlafsTer?) c.3241del (p.Cys1081AlafsTer?) c.3145del (p.Cys1049AlafsTer?) c.3139del (p.Cys1047AlafsTer?) c.3064del (p.Cys1022AlafsTer?) c.2200del (p.Cys734AlafsTer?) n.3352+102del n.3317del n.3210del c.3427del (p.Cys1143AlafsTer?) c.3352del (p.Cys1118AlafsTer?) c.3331del (p.Cys1111AlafsTer?) c.3229del (p.Cys1077AlafsTer?) c.2290del (p.Cys764AlafsTer?) n.3438+102del n.3403del n.3294del n.3157del n.2959del | ClinVar dbSNP |
| 8 | g.144512042A= | CA1826365562 | RECQL4 | c.3262T= (p.Cys1088=) c.279T= n.50-253T= c.508T= (p.Cys170=) c.2191T= (p.Cys731=) c.3337T= (p.Cys1113=) c.3241T= (p.Cys1081=) c.3145T= (p.Cys1049=) c.3139T= (p.Cys1047=) c.3064T= (p.Cys1022=) c.2200T= (p.Cys734=) n.3352+102T= n.3317T= n.3210T= c.3427T= (p.Cys1143=) c.3352T= (p.Cys1118=) c.3331T= (p.Cys1111=) c.3229T= (p.Cys1077=) c.2290T= (p.Cys764=) n.3438+102T= n.3403T= n.3294T= n.3157T= n.2959T= | |
| 8 | g.144512042A>C | CA372669175 | RECQL4 | c.3262T>G (p.Cys1088Gly) c.279T>G n.50-253T>G c.508T>G (p.Cys170Gly) c.2191T>G (p.Cys731Gly) c.3337T>G (p.Cys1113Gly) c.3241T>G (p.Cys1081Gly) c.3145T>G (p.Cys1049Gly) c.3139T>G (p.Cys1047Gly) c.3064T>G (p.Cys1022Gly) c.2200T>G (p.Cys734Gly) n.3352+102T>G n.3317T>G n.3210T>G c.3427T>G (p.Cys1143Gly) c.3352T>G (p.Cys1118Gly) c.3331T>G (p.Cys1111Gly) c.3229T>G (p.Cys1077Gly) c.2290T>G (p.Cys764Gly) n.3438+102T>G n.3403T>G n.3294T>G n.3157T>G n.2959T>G | |
| 8 | g.144512042A>G | CA372669178 | RECQL4 | c.3262T>C (p.Cys1088Arg) c.279T>C n.50-253T>C c.508T>C (p.Cys170Arg) c.2191T>C (p.Cys731Arg) c.3337T>C (p.Cys1113Arg) c.3241T>C (p.Cys1081Arg) c.3145T>C (p.Cys1049Arg) c.3139T>C (p.Cys1047Arg) c.3064T>C (p.Cys1022Arg) c.2200T>C (p.Cys734Arg) n.3352+102T>C n.3317T>C n.3210T>C c.3427T>C (p.Cys1143Arg) c.3352T>C (p.Cys1118Arg) c.3331T>C (p.Cys1111Arg) c.3229T>C (p.Cys1077Arg) c.2290T>C (p.Cys764Arg) n.3438+102T>C n.3403T>C n.3294T>C n.3157T>C n.2959T>C | ClinVar dbSNP gnomAD v4 |
| 8 | g.144512042A>T | CA372669176 | RECQL4 | c.3262T>A (p.Cys1088Ser) c.279T>A n.50-253T>A c.508T>A (p.Cys170Ser) c.2191T>A (p.Cys731Ser) c.3337T>A (p.Cys1113Ser) c.3241T>A (p.Cys1081Ser) c.3145T>A (p.Cys1049Ser) c.3139T>A (p.Cys1047Ser) c.3064T>A (p.Cys1022Ser) c.2200T>A (p.Cys734Ser) n.3352+102T>A n.3317T>A n.3210T>A c.3427T>A (p.Cys1143Ser) c.3352T>A (p.Cys1118Ser) c.3331T>A (p.Cys1111Ser) c.3229T>A (p.Cys1077Ser) c.2290T>A (p.Cys764Ser) n.3438+102T>A n.3403T>A n.3294T>A n.3157T>A n.2959T>A | dbSNP |
| 8 | g.144512043G>A | CA4947838 | RECQL4 | c.3261C>T (p.Pro1087=) c.278C>T n.50-254C>T c.507C>T (p.Pro169=) c.2190C>T (p.Pro730=) c.3336C>T (p.Pro1112=) c.3240C>T (p.Pro1080=) c.3144C>T (p.Pro1048=) c.3138C>T (p.Pro1046=) c.3063C>T (p.Pro1021=) c.2199C>T (p.Pro733=) n.3352+101C>T n.3316C>T n.3209C>T c.3426C>T (p.Pro1142=) c.3351C>T (p.Pro1117=) c.3330C>T (p.Pro1110=) c.3228C>T (p.Pro1076=) c.2289C>T (p.Pro763=) n.3438+101C>T n.3402C>T n.3293C>T n.3156C>T n.2958C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.144512043G>C | CA463566015 | RECQL4 | c.3261C>G (p.Pro1087=) c.278C>G n.50-254C>G c.507C>G (p.Pro169=) c.2190C>G (p.Pro730=) c.3336C>G (p.Pro1112=) c.3240C>G (p.Pro1080=) c.3144C>G (p.Pro1048=) c.3138C>G (p.Pro1046=) c.3063C>G (p.Pro1021=) c.2199C>G (p.Pro733=) n.3352+101C>G n.3316C>G n.3209C>G c.3426C>G (p.Pro1142=) c.3351C>G (p.Pro1117=) c.3330C>G (p.Pro1110=) c.3228C>G (p.Pro1076=) c.2289C>G (p.Pro763=) n.3438+101C>G n.3402C>G n.3293C>G n.3156C>G n.2958C>G | |
| 8 | g.144512043G= | CA1826365563 | RECQL4 | c.3261C= (p.Pro1087=) c.278C= n.50-254C= c.507C= (p.Pro169=) c.2190C= (p.Pro730=) c.3336C= (p.Pro1112=) c.3240C= (p.Pro1080=) c.3144C= (p.Pro1048=) c.3138C= (p.Pro1046=) c.3063C= (p.Pro1021=) c.2199C= (p.Pro733=) n.3352+101C= n.3316C= n.3209C= c.3426C= (p.Pro1142=) c.3351C= (p.Pro1117=) c.3330C= (p.Pro1110=) c.3228C= (p.Pro1076=) c.2289C= (p.Pro763=) n.3438+101C= n.3402C= n.3293C= n.3156C= n.2958C= | |
| 8 | g.144512043G>T | CA463566017 | RECQL4 | c.3261C>A (p.Pro1087=) c.278C>A n.50-254C>A c.507C>A (p.Pro169=) c.2190C>A (p.Pro730=) c.3336C>A (p.Pro1112=) c.3240C>A (p.Pro1080=) c.3144C>A (p.Pro1048=) c.3138C>A (p.Pro1046=) c.3063C>A (p.Pro1021=) c.2199C>A (p.Pro733=) n.3352+101C>A n.3316C>A n.3209C>A c.3426C>A (p.Pro1142=) c.3351C>A (p.Pro1117=) c.3330C>A (p.Pro1110=) c.3228C>A (p.Pro1076=) c.2289C>A (p.Pro763=) n.3438+101C>A n.3402C>A n.3293C>A n.3156C>A n.2958C>A | |
| 8 | g.144512044G>A | CA372669189 | RECQL4 | c.3260C>T (p.Pro1087Leu) c.277C>T n.50-255C>T c.506C>T (p.Pro169Leu) c.2189C>T (p.Pro730Leu) c.3335C>T (p.Pro1112Leu) c.3239C>T (p.Pro1080Leu) c.3143C>T (p.Pro1048Leu) c.3137C>T (p.Pro1046Leu) c.3062C>T (p.Pro1021Leu) c.2198C>T (p.Pro733Leu) n.3352+100C>T n.3315C>T n.3208C>T c.3425C>T (p.Pro1142Leu) c.3350C>T (p.Pro1117Leu) c.3329C>T (p.Pro1110Leu) c.3227C>T (p.Pro1076Leu) c.2288C>T (p.Pro763Leu) n.3438+100C>T n.3401C>T n.3292C>T n.3155C>T n.2957C>T | gnomAD v4 |
| 8 | g.144512044G>C | CA372669211 | RECQL4 | c.3260C>G (p.Pro1087Arg) c.277C>G n.50-255C>G c.506C>G (p.Pro169Arg) c.2189C>G (p.Pro730Arg) c.3335C>G (p.Pro1112Arg) c.3239C>G (p.Pro1080Arg) c.3143C>G (p.Pro1048Arg) c.3137C>G (p.Pro1046Arg) c.3062C>G (p.Pro1021Arg) c.2198C>G (p.Pro733Arg) n.3352+100C>G n.3315C>G n.3208C>G c.3425C>G (p.Pro1142Arg) c.3350C>G (p.Pro1117Arg) c.3329C>G (p.Pro1110Arg) c.3227C>G (p.Pro1076Arg) c.2288C>G (p.Pro763Arg) n.3438+100C>G n.3401C>G n.3292C>G n.3155C>G n.2957C>G | |
| 8 | g.144512044G>T | CA372669215 | RECQL4 | c.3260C>A (p.Pro1087His) c.277C>A n.50-255C>A c.506C>A (p.Pro169His) c.2189C>A (p.Pro730His) c.3335C>A (p.Pro1112His) c.3239C>A (p.Pro1080His) c.3143C>A (p.Pro1048His) c.3137C>A (p.Pro1046His) c.3062C>A (p.Pro1021His) c.2198C>A (p.Pro733His) n.3352+100C>A n.3315C>A n.3208C>A c.3425C>A (p.Pro1142His) c.3350C>A (p.Pro1117His) c.3329C>A (p.Pro1110His) c.3227C>A (p.Pro1076His) c.2288C>A (p.Pro763His) n.3438+100C>A n.3401C>A n.3292C>A n.3155C>A n.2957C>A | gnomAD v4 |