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 |
|---|---|---|---|---|---|
| 17 | g.1650751_1650772dup | CA2808190795 | PRPF8 | c.*31_*52dup (n.*31_*52dup) c.2787_2808dup c.*6762_*6783dup (n.*6762_*6783dup) n.3353_3374dup c.238_259dup | |
| 17 | g.1650755dup | CA624564855 | PRPF8 | c.*50dup (n.*50dup) c.2806dup c.*6781dup (n.*6781dup) n.3372dup c.257dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650753_1650774dup | CA2733107537 | PRPF8 | c.*29_*50dup (n.*29_*50dup) c.2785_2806dup c.*6760_*6781dup (n.*6760_*6781dup) n.3351_3372dup c.236_257dup | dbSNP |
| 17 | g.1650753_1650765delinsGGGCTGAGGCTTC | CA2242977069 | PRPF8 | c.*37_*49delinsGAAGCCTCAGCCC (n.*37_*49delinsGAAGCCTCAGCCC) c.2793_2805delinsGAAGCCTCAGCCC c.*6768_*6780delinsGAAGCCTCAGCCC (n.*6768_*6780delinsGAAGCCTCAGCCC) n.3359_3371delinsGAAGCCTCAGCCC c.244_256delinsGAAGCCTCAGCCC | |
| 17 | g.1650757_1650768del | CA919773833 | PRPF8 | c.*37_*48del (n.*37_*48del) c.2793_2804del c.*6768_*6779del (n.*6768_*6779del) n.3359_3370del c.244_255del | dbSNP gnomAD v4 |
| 17 | g.1650755G>A | CA8271013 | PRPF8 | c.*47C>T (n.*47C>T) c.2803C>T c.*6778C>T (n.*6778C>T) n.3369C>T c.254C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1650755G= | CA2242977077 | PRPF8 | c.*47C= (n.*47C=) c.2803C= c.*6778C= (n.*6778C=) n.3369C= c.254C= | |
| 17 | g.1650755G>T | CA8271012 | PRPF8 | c.*47C>A (n.*47C>A) c.2803C>A c.*6778C>A (n.*6778C>A) n.3369C>A c.254C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1650756C= | CA2242977079 | PRPF8 | c.*46G= (n.*46G=) c.2802G= c.*6777G= (n.*6777G=) n.3368G= c.253G= | |
| 17 | g.1650756C>T | CA624564857 | PRPF8 | c.*46G>A (n.*46G>A) c.2802G>A c.*6777G>A (n.*6777G>A) n.3368G>A c.253G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.1650756dup | CA726482064 | PRPF8 | c.*46dup (n.*46dup) c.2802dup c.*6777dup (n.*6777dup) n.3368dup c.253dup | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.1650757T>C | CA8271014 | PRPF8 | c.*45A>G (n.*45A>G) c.2801A>G c.*6776A>G (n.*6776A>G) n.3367A>G c.252A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1650757T= | CA2242977081 | PRPF8 | c.*45A= (n.*45A=) c.2801A= c.*6776A= (n.*6776A=) n.3367A= c.252A= | |
| 17 | g.1650759del | CA2576113104 | PRPF8 | c.*43del (n.*43del) c.2799del c.*6774del (n.*6774del) n.3365del c.250del | |
| 17 | g.1650760G>A | CA8271016 | PRPF8 | c.*42C>T (n.*42C>T) c.2798C>T c.*6773C>T (n.*6773C>T) n.3364C>T c.249C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650760G>C | CA8271015 | PRPF8 | c.*42C>G (n.*42C>G) c.2798C>G c.*6773C>G (n.*6773C>G) n.3364C>G c.249C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1650760G= | CA2242977084 | PRPF8 | c.*42C= (n.*42C=) c.2798C= c.*6773C= (n.*6773C=) n.3364C= c.249C= | |
| 17 | g.1650761G>A | CA624564858 | PRPF8 | c.*41C>T (n.*41C>T) c.2797C>T c.*6772C>T (n.*6772C>T) n.3363C>T c.248C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.1650761G= | CA2242977088 | PRPF8 | c.*41C= (n.*41C=) c.2797C= c.*6772C= (n.*6772C=) n.3363C= c.248C= | |
| 17 | g.1650762C>A | CA726482073 | PRPF8 | c.*40G>T (n.*40G>T) c.2796G>T c.*6771G>T (n.*6771G>T) n.3362G>T c.247G>T | dbSNP |
| 17 | g.1650762C= | CA2242977090 | PRPF8 | c.*40G= (n.*40G=) c.2796G= c.*6771G= (n.*6771G=) n.3362G= c.247G= | |
| 17 | g.1650762C>T | CA2635248330 | PRPF8 | c.*40G>A (n.*40G>A) c.2796G>A c.*6771G>A (n.*6771G>A) n.3362G>A c.247G>A | gnomAD v4 |
| 17 | g.1650764T>C | CA624564859 | PRPF8 | c.*38A>G (n.*38A>G) c.2794A>G c.*6769A>G (n.*6769A>G) n.3360A>G c.245A>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.1650764T>G | CA2635248332 | PRPF8 | c.*38A>C (n.*38A>C) c.2794A>C c.*6769A>C (n.*6769A>C) n.3360A>C c.245A>C | gnomAD v4 |
| 17 | g.1650764T= | CA2242977092 | PRPF8 | c.*38A= (n.*38A=) c.2794A= c.*6769A= (n.*6769A=) n.3360A= c.245A= | |
| 17 | g.1650765C= | CA2242977095 | PRPF8 | c.*37G= (n.*37G=) c.2793G= c.*6768G= (n.*6768G=) n.3359G= c.244G= | |
| 17 | g.1650765C>G | CA8271018 | PRPF8 | c.*37G>C (n.*37G>C) c.2793G>C c.*6768G>C (n.*6768G>C) n.3359G>C c.244G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650765C>T | CA8271017 | PRPF8 | c.*37G>A (n.*37G>A) c.2793G>A c.*6768G>A (n.*6768G>A) n.3359G>A c.244G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650766G>A | CA10649571 | PRPF8 | c.*36C>T (n.*36C>T) c.2792C>T c.*6767C>T (n.*6767C>T) n.3358C>T c.243C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.1650766G>C | CA8271019 | PRPF8 | c.*36C>G (n.*36C>G) c.2792C>G c.*6767C>G (n.*6767C>G) n.3358C>G c.243C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650766G= | CA2242977101 | PRPF8 | c.*36C= (n.*36C=) c.2792C= c.*6767C= (n.*6767C=) n.3358C= c.243C= | |
| 17 | g.1650766G>T | CA624564860 | PRPF8 | c.*36C>A (n.*36C>A) c.2792C>A c.*6767C>A (n.*6767C>A) n.3358C>A c.243C>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.1650767G>A | CA2635248350 | PRPF8 | c.*35C>T (n.*35C>T) c.2791C>T c.*6766C>T (n.*6766C>T) n.3357C>T c.242C>T | gnomAD v4 |
| 17 | g.1650769C= | CA2242977105 | PRPF8 | c.*33G= (n.*33G=) c.2789G= c.*6764G= (n.*6764G=) n.3355G= c.240G= | |
| 17 | g.1650769C>T | CA8271020 | PRPF8 | c.*33G>A (n.*33G>A) c.2789G>A c.*6764G>A (n.*6764G>A) n.3355G>A c.240G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650770T>C | CA8271021 | PRPF8 | c.*32A>G (n.*32A>G) c.2788A>G c.*6763A>G (n.*6763A>G) n.3354A>G c.239A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650770T= | CA2242977107 | PRPF8 | c.*32A= (n.*32A=) c.2788A= c.*6763A= (n.*6763A=) n.3354A= c.239A= | |
| 17 | g.1650771C>A | CA726482088 | PRPF8 | c.*31G>T (n.*31G>T) c.2787G>T c.*6762G>T (n.*6762G>T) n.3353G>T c.238G>T | dbSNP |
| 17 | g.1650771C= | CA2242977111 | PRPF8 | c.*31G= (n.*31G=) c.2787G= c.*6762G= (n.*6762G=) n.3353G= c.238G= | |
| 17 | g.1650771C>T | CA624564861 | PRPF8 | c.*31G>A (n.*31G>A) c.2787G>A c.*6762G>A (n.*6762G>A) n.3353G>A c.238G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650772G>A | CA8271022 | PRPF8 | c.*30C>T (n.*30C>T) c.2786C>T c.*6761C>T (n.*6761C>T) n.3352C>T c.237C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650772G>C | CA980683843 | PRPF8 | c.*30C>G (n.*30C>G) c.2786C>G c.*6761C>G (n.*6761C>G) n.3352C>G c.237C>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.1650772G= | CA2242977112 | PRPF8 | c.*30C= (n.*30C=) c.2786C= c.*6761C= (n.*6761C=) n.3352C= c.237C= | |
| 17 | g.1650774del | CA2576113106 | PRPF8 | c.*30del (n.*30del) c.2786del c.*6761del (n.*6761del) n.3352del c.237del | |
| 17 | g.1650773G>A | CA624564862 | PRPF8 | c.*29C>T (n.*29C>T) c.2785C>T c.*6760C>T (n.*6760C>T) n.3351C>T c.236C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.1650773G>C | CA2576113107 | PRPF8 | c.*29C>G (n.*29C>G) c.2785C>G c.*6760C>G (n.*6760C>G) n.3351C>G c.236C>G | |
| 17 | g.1650773G= | CA2242977114 | PRPF8 | c.*29C= (n.*29C=) c.2785C= c.*6760C= (n.*6760C=) n.3351C= c.236C= | |
| 17 | g.1650774G>A | CA286849386 | PRPF8 | c.*28C>T (n.*28C>T) c.2784C>T c.*6759C>T (n.*6759C>T) n.3350C>T c.235C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650774G= | CA2242977115 | PRPF8 | c.*28C= (n.*28C=) c.2784C= c.*6759C= (n.*6759C=) n.3350C= c.235C= | |
| 17 | g.1650775_1650776dup | CA2576113108 | PRPF8 | c.*27_*28dup (n.*27_*28dup) c.2783_2784dup c.*6758_*6759dup (n.*6758_*6759dup) n.3349_3350dup c.234_235dup | |
| 17 | g.1650776_1650808del | CA2580092430 | PRPF8 | c.6823_*27del (n.[c.6823_*27del;Ala2275ProfsTer?]) c.2751_2783del c.*6726_*6758del (n.*6726_*6758del) n.3317_3349del c.6856_*27del (n.[c.6856_*27del;Ala2286ProfsTer?]) c.7003_*27del (n.[c.7003_*27del;Ala2335ProfsTer?]) c.202_234del | ClinVar |
| 17 | g.1650776G>A | CA8271023 | PRPF8 | c.*26C>T (n.*26C>T) c.2782C>T c.*6757C>T (n.*6757C>T) n.3348C>T c.233C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1650776G= | CA2242977117 | PRPF8 | c.*26C= (n.*26C=) c.2782C= c.*6757C= (n.*6757C=) n.3348C= c.233C= | |
| 17 | g.1650776G>T | CA2635248362 | PRPF8 | c.*26C>A (n.*26C>A) c.2782C>A c.*6757C>A (n.*6757C>A) n.3348C>A c.233C>A | gnomAD v4 |
| 17 | g.1650777dup | CA2635248359 | PRPF8 | c.*26dup (n.*26dup) c.2782dup c.*6757dup (n.*6757dup) n.3348dup c.233dup | gnomAD v4 |
| 17 | g.1650777G>A | CA624564863 | PRPF8 | c.*25C>T (n.*25C>T) c.2781C>T c.*6756C>T (n.*6756C>T) n.3347C>T c.232C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650777G>C | CA8271024 | PRPF8 | c.*25C>G (n.*25C>G) c.2781C>G c.*6756C>G (n.*6756C>G) n.3347C>G c.232C>G | dbSNP ExAC gnomAD v4 |
| 17 | g.1650777G= | CA2242977120 | PRPF8 | c.*25C= (n.*25C=) c.2781C= c.*6756C= (n.*6756C=) n.3347C= c.232C= | |
| 17 | g.1650778C>G | CA2576113109 | PRPF8 | c.*24G>C (n.*24G>C) c.2780G>C c.*6755G>C (n.*6755G>C) n.3346G>C c.231G>C | |
| 17 | g.1650778_1650796delinsCTGAAGCAGGAGGCAGGGA | CA2242977121 | PRPF8 | c.*6_*24delinsTCCCTGCCTCCTGCTTCAG (n.*6_*24delinsTCCCTGCCTCCTGCTTCAG) c.2762_2780delinsTCCCTGCCTCCTGCTTCAG c.*6737_*6755delinsTCCCTGCCTCCTGCTTCAG (n.*6737_*6755delinsTCCCTGCCTCCTGCTTCAG) n.3328_3346delinsTCCCTGCCTCCTGCTTCAG c.213_231delinsTCCCTGCCTCCTGCTTCAG | |
| 17 | g.1650779T>C | CA8271025 | PRPF8 | c.*23A>G (n.*23A>G) c.2779A>G c.*6754A>G (n.*6754A>G) n.3345A>G c.230A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650779T>G | CA2559861089 | PRPF8 | c.*23A>C (n.*23A>C) c.2779A>C c.*6754A>C (n.*6754A>C) n.3345A>C c.230A>C | gnomAD v4 |
| 17 | g.1650779T= | CA2242977123 | PRPF8 | c.*23A= (n.*23A=) c.2779A= c.*6754A= (n.*6754A=) n.3345A= c.230A= | |
| 17 | g.1650779_1650796del | CA624564864 | PRPF8 | c.*6_*23del (n.*6_*23del) c.2762_2779del c.*6737_*6754del (n.*6737_*6754del) n.3328_3345del c.213_230del | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.1650782A= | CA2242977126 | PRPF8 | c.*20T= (n.*20T=) c.2776T= c.*6751T= (n.*6751T=) n.3342T= c.227T= | |
| 17 | g.1650782A>C | CA8271026 | PRPF8 | c.*20T>G (n.*20T>G) c.2776T>G c.*6751T>G (n.*6751T>G) n.3342T>G c.227T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1650782A>G | CA2635248376 | PRPF8 | c.*20T>C (n.*20T>C) c.2776T>C c.*6751T>C (n.*6751T>C) n.3342T>C c.227T>C | gnomAD v4 |
| 17 | g.1650783G>A | CA2635248379 | PRPF8 | c.*19C>T (n.*19C>T) c.2775C>T c.*6750C>T (n.*6750C>T) n.3341C>T c.226C>T | gnomAD v4 |
| 17 | g.1650784C= | CA2242977128 | PRPF8 | c.*18G= (n.*18G=) c.2774G= c.*6749G= (n.*6749G=) n.3340G= c.225G= | |
| 17 | g.1650784C>G | CA286849400 | PRPF8 | c.*18G>C (n.*18G>C) c.2774G>C c.*6749G>C (n.*6749G>C) n.3340G>C c.225G>C | dbSNP gnomAD v4 |
| 17 | g.1650786G>A | CA2517252296 | PRPF8 | c.*16C>T (n.*16C>T) c.2772C>T c.*6747C>T (n.*6747C>T) n.3338C>T c.223C>T | |
| 17 | g.1650786G>C | CA980683857 | PRPF8 | c.*16C>G (n.*16C>G) c.2772C>G c.*6747C>G (n.*6747C>G) n.3338C>G c.223C>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.1650786G= | CA2242977130 | PRPF8 | c.*16C= (n.*16C=) c.2772C= c.*6747C= (n.*6747C=) n.3338C= c.223C= | |
| 17 | g.1650787G>T | CA2635248383 | PRPF8 | c.*15C>A (n.*15C>A) c.2771C>A c.*6746C>A (n.*6746C>A) n.3337C>A c.222C>A | gnomAD v4 |
| 17 | g.1650787_1650788insGGGTG | CA2562647843 | PRPF8 | c.*15_*16insACCCC (n.*15_*16insACCCC) c.2771_2772insACCCC c.*6746_*6747insACCCC (n.*6746_*6747insACCCC) n.3337_3338insACCCC c.222_223insACCCC | |
| 17 | g.1650788A= | CA2242977131 | PRPF8 | c.*14T= (n.*14T=) c.2770T= c.*6745T= (n.*6745T=) n.3336T= c.221T= | |
| 17 | g.1650788A>T | CA2242977132 | PRPF8 | c.*14T>A (n.*14T>A) c.2770T>A c.*6745T>A (n.*6745T>A) n.3336T>A c.221T>A | dbSNP gnomAD v4 |
| 17 | g.1650789G>A | CA2635248386 | PRPF8 | c.*13C>T (n.*13C>T) c.2769C>T c.*6744C>T (n.*6744C>T) n.3335C>T c.220C>T | gnomAD v4 |
| 17 | g.1650789G>T | CA2635248387 | PRPF8 | c.*13C>A (n.*13C>A) c.2769C>A c.*6744C>A (n.*6744C>A) n.3335C>A c.220C>A | gnomAD v4 |
| 17 | g.1650790G>A | CA2635248388 | PRPF8 | c.*12C>T (n.*12C>T) c.2768C>T c.*6743C>T (n.*6743C>T) n.3334C>T c.219C>T | gnomAD v4 |
| 17 | g.1650791_1650793del | CA2532628551 | PRPF8 | c.*10_*12del (n.*10_*12del) c.2766_2768del c.*6741_*6743del (n.*6741_*6743del) n.3332_3334del c.217_219del | |
| 17 | g.1650791C>A | CA8271027 | PRPF8 | c.*11G>T (n.*11G>T) c.2767G>T c.*6742G>T (n.*6742G>T) n.3333G>T c.218G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650791C= | CA2242977137 | PRPF8 | c.*11G= (n.*11G=) c.2767G= c.*6742G= (n.*6742G=) n.3333G= c.218G= | |
| 17 | g.1650792A= | CA2242977138 | PRPF8 | c.*10T= (n.*10T=) c.2766T= c.*6741T= (n.*6741T=) n.3332T= c.217T= | |
| 17 | g.1650792A>T | CA624564873 | PRPF8 | c.*10T>A (n.*10T>A) c.2766T>A c.*6741T>A (n.*6741T>A) n.3332T>A c.217T>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.1650795del | CA2635248393 | PRPF8 | c.*9del (n.*9del) c.2765del c.*6740del (n.*6740del) n.3331del c.216del | gnomAD v4 |
| 17 | g.1650794G>A | CA2635248396 | PRPF8 | c.*8C>T (n.*8C>T) c.2764C>T c.*6739C>T (n.*6739C>T) n.3330C>T c.215C>T | gnomAD v4 |
| 17 | g.1650795G>A | CA624564874 | PRPF8 | c.*7C>T (n.*7C>T) c.2763C>T c.*6738C>T (n.*6738C>T) n.3329C>T c.214C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650795G>C | CA624564875 | PRPF8 | c.*7C>G (n.*7C>G) c.2763C>G c.*6738C>G (n.*6738C>G) n.3329C>G c.214C>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.1650795G= | CA2242977141 | PRPF8 | c.*7C= (n.*7C=) c.2763C= c.*6738C= (n.*6738C=) n.3329C= c.214C= | |
| 17 | g.1650796A= | CA2242977144 | PRPF8 | c.*6T= (n.*6T=) c.2762T= c.*6737T= (n.*6737T=) n.3328T= c.213T= | |
| 17 | g.1650796A>G | CA624564876 | PRPF8 | c.*6T>C (n.*6T>C) c.2762T>C c.*6737T>C (n.*6737T>C) n.3328T>C c.213T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650796A>T | CA624564877 | PRPF8 | c.*6T>A (n.*6T>A) c.2762T>A c.*6737T>A (n.*6737T>A) n.3328T>A c.213T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650797A>C | CA2567324662 | PRPF8 | c.*5T>G (n.*5T>G) c.2761T>G c.*6736T>G (n.*6736T>G) n.3327T>G c.212T>G | |
| 17 | g.1650799del | CA2533389832 | PRPF8 | c.*3del (n.*3del) c.2759del c.*6734del (n.*6734del) n.3325del c.210del | |
| 17 | g.1650799C>A | CA2635248405 | PRPF8 | c.*3G>T (n.*3G>T) c.2759G>T c.*6734G>T (n.*6734G>T) n.3325G>T c.210G>T | gnomAD v4 |
| 17 | g.1650799C= | CA2242977148 | PRPF8 | c.*3G= (n.*3G=) c.2759G= c.*6734G= (n.*6734G=) n.3325G= c.210G= | |
| 17 | g.1650799C>T | CA286849410 | PRPF8 | c.*3G>A (n.*3G>A) c.2759G>A c.*6734G>A (n.*6734G>A) n.3325G>A c.210G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650800G>A | CA8271028 | PRPF8 | c.*2C>T (n.*2C>T) c.2758C>T c.*6733C>T (n.*6733C>T) n.3324C>T c.209C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650800G>C | CA2635248415 | PRPF8 | c.*2C>G (n.*2C>G) c.2758C>G c.*6733C>G (n.*6733C>G) n.3324C>G c.209C>G | gnomAD v4 |
| 17 | g.1650800G= | CA2242977153 | PRPF8 | c.*2C= (n.*2C=) c.2758C= c.*6733C= (n.*6733C=) n.3324C= c.209C= | |
| 17 | g.1650800G>T | CA8271029 | PRPF8 | c.*2C>A (n.*2C>A) c.2758C>A c.*6733C>A (n.*6733C>A) n.3324C>A c.209C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650801dup | CA624564878 | PRPF8 | c.*2dup (n.*2dup) c.2758dup c.*6733dup (n.*6733dup) n.3324dup c.209dup | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.1650801G>C | CA2546588816 | PRPF8 | c.*1C>G (n.*1C>G) c.2757C>G c.*6732C>G (n.*6732C>G) n.3323C>G c.208C>G | |
| 17 | g.1650802T>A | CA397561640 | PRPF8 | c.6828A>T (p.Ter2276Cys) c.2756A>T c.*6731A>T (n.*6731A>T) n.3322A>T c.6861A>T (p.Ter2287Cys) c.6873A>T (p.Ter2291Cys) c.7008A>T (p.Ter2336Cys) c.207A>T | |
| 17 | g.1650802T>C | CA397561636 | PRPF8 | c.6828A>G (p.Ter2276Trp) c.2756A>G c.*6731A>G (n.*6731A>G) n.3322A>G c.6861A>G (p.Ter2287Trp) c.6873A>G (p.Ter2291Trp) c.7008A>G (p.Ter2336Trp) c.207A>G | |
| 17 | g.1650802T>G | CA397561638 | PRPF8 | c.6828A>C (p.Ter2276Cys) c.2756A>C c.*6731A>C (n.*6731A>C) n.3322A>C c.6861A>C (p.Ter2287Cys) c.6873A>C (p.Ter2291Cys) c.7008A>C (p.Ter2336Cys) c.207A>C | |
| 17 | g.1650803del | CA2543511980 | PRPF8 | c.6827del (p.Ter2276TyrextTer23) c.2755del c.*6730del (n.*6730del) n.3321del c.6860del (p.Ter2287TyrextTer23) c.6872del (p.Ter2291=) c.7007del (p.Ter2336TyrextTer23) c.206del | |
| 17 | g.1650803C>A | CA397561643 | PRPF8 | c.6827G>T (p.Ter2276Leu) c.2755G>T c.*6730G>T (n.*6730G>T) n.3321G>T c.6860G>T (p.Ter2287Leu) c.6872G>T (p.Ter2291Leu) c.7007G>T (p.Ter2336Leu) c.206G>T | |
| 17 | g.1650803C= | CA2242977161 | PRPF8 | c.6827G= (p.Ter2276=) c.2755G= c.*6730G= (n.*6730G=) n.3321G= c.6860G= (p.Ter2287=) c.6872G= (p.Ter2291=) c.7007G= (p.Ter2336=) c.206G= | |
| 17 | g.1650803C>G | CA397561645 | PRPF8 | c.6827G>C (p.Ter2276Ser) c.2755G>C c.*6730G>C (n.*6730G>C) n.3321G>C c.6860G>C (p.Ter2287Ser) c.6872G>C (p.Ter2291Ser) c.7007G>C (p.Ter2336Ser) c.206G>C | ClinVar dbSNP |
| 17 | g.1650803C>T | CA8271030 | PRPF8 | c.6827G>A (p.Ter2276=) c.2755G>A c.*6730G>A (n.*6730G>A) n.3321G>A c.6860G>A (p.Ter2287=) c.6872G>A (p.Ter2291=) c.7007G>A (p.Ter2336=) c.206G>A | dbSNP ExAC gnomAD v2 COSMIC |
| 17 | g.1650804A>C | CA397561647 | PRPF8 | c.6826T>G (p.Ter2276Gly) c.2754T>G c.*6729T>G (n.*6729T>G) n.3320T>G c.6859T>G (p.Ter2287Gly) c.6871T>G (p.Ter2291Gly) c.7006T>G (p.Ter2336Gly) c.205T>G | |
| 17 | g.1650804A>G | CA397561650 | PRPF8 | c.6826T>C (p.Ter2276Arg) c.2754T>C c.*6729T>C (n.*6729T>C) n.3320T>C c.6859T>C (p.Ter2287Arg) c.6871T>C (p.Ter2291Arg) c.7006T>C (p.Ter2336Arg) c.205T>C | |
| 17 | g.1650804A>T | CA397561652 | PRPF8 | c.6826T>A (p.Ter2276Arg) c.2754T>A c.*6729T>A (n.*6729T>A) n.3320T>A c.6859T>A (p.Ter2287Arg) c.6871T>A (p.Ter2291Arg) c.7006T>A (p.Ter2336Arg) c.205T>A | |
| 17 | g.1650805G>A | CA497291358 | PRPF8 | c.6825C>T (p.Ala2275=) c.2753C>T c.*6728C>T (n.*6728C>T) n.3319C>T c.6858C>T (p.Ala2286=) c.6870C>T (p.Ala2290=) c.7005C>T (p.Ala2335=) c.204C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.1650805G>C | CA497291360 | PRPF8 | c.6825C>G (p.Ala2275=) c.2753C>G c.*6728C>G (n.*6728C>G) n.3319C>G c.6858C>G (p.Ala2286=) c.6870C>G (p.Ala2290=) c.7005C>G (p.Ala2335=) c.204C>G | gnomAD v4 |
| 17 | g.1650805G= | CA2242977166 | PRPF8 | c.6825C= (p.Ala2275=) c.2753C= c.*6728C= (n.*6728C=) n.3319C= c.6858C= (p.Ala2286=) c.6870C= (p.Ala2290=) c.7005C= (p.Ala2335=) c.204C= | |
| 17 | g.1650805G>T | CA497291362 | PRPF8 | c.6825C>A (p.Ala2275=) c.2753C>A c.*6728C>A (n.*6728C>A) n.3319C>A c.6858C>A (p.Ala2286=) c.6870C>A (p.Ala2290=) c.7005C>A (p.Ala2335=) c.204C>A | |
| 17 | g.1650806G>A | CA8271031 | PRPF8 | c.6824C>T (p.Ala2275Val) c.2752C>T c.*6727C>T (n.*6727C>T) n.3318C>T c.6857C>T (p.Ala2286Val) c.6869C>T (p.Ala2290Val) c.7004C>T (p.Ala2335Val) c.203C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1650806G>C | CA397561655 | PRPF8 | c.6824C>G (p.Ala2275Gly) c.2752C>G c.*6727C>G (n.*6727C>G) n.3318C>G c.6857C>G (p.Ala2286Gly) c.6869C>G (p.Ala2290Gly) c.7004C>G (p.Ala2335Gly) c.203C>G | |
| 17 | g.1650806G= | CA2242977168 | PRPF8 | c.6824C= (p.Ala2275=) c.2752C= c.*6727C= (n.*6727C=) n.3318C= c.6857C= (p.Ala2286=) c.6869C= (p.Ala2290=) c.7004C= (p.Ala2335=) c.203C= | |
| 17 | g.1650806G>T | CA397561661 | PRPF8 | c.6824C>A (p.Ala2275Asp) c.2752C>A c.*6727C>A (n.*6727C>A) n.3318C>A c.6857C>A (p.Ala2286Asp) c.6869C>A (p.Ala2290Asp) c.7004C>A (p.Ala2335Asp) c.203C>A | |
| 17 | g.1650807C>A | CA397561669 | PRPF8 | c.6823G>T (p.Ala2275Ser) c.2751G>T c.*6726G>T (n.*6726G>T) n.3317G>T c.6856G>T (p.Ala2286Ser) c.6868G>T (p.Ala2290Ser) c.7003G>T (p.Ala2335Ser) c.202G>T | |
| 17 | g.1650807C>G | CA397561670 | PRPF8 | c.6823G>C (p.Ala2275Pro) c.2751G>C c.*6726G>C (n.*6726G>C) n.3317G>C c.6856G>C (p.Ala2286Pro) c.6868G>C (p.Ala2290Pro) c.7003G>C (p.Ala2335Pro) c.202G>C | |
| 17 | g.1650807C>T | CA397561673 | PRPF8 | c.6823G>A (p.Ala2275Thr) c.2751G>A c.*6726G>A (n.*6726G>A) n.3317G>A c.6856G>A (p.Ala2286Thr) c.6868G>A (p.Ala2290Thr) c.7003G>A (p.Ala2335Thr) c.202G>A | |
| 17 | g.1650808A= | CA2242977170 | PRPF8 | c.6822T= (p.Tyr2274=) c.2750T= c.*6725T= (n.*6725T=) n.3316T= c.6855T= (p.Tyr2285=) c.6867T= (p.Tyr2289=) c.7002T= (p.Tyr2334=) c.201T= | |
| 17 | g.1650808A>C | CA397561679 | PRPF8 | c.6822T>G (p.Tyr2274Ter) c.2750T>G c.*6725T>G (n.*6725T>G) n.3316T>G c.6855T>G (p.Tyr2285Ter) c.6867T>G (p.Tyr2289Ter) c.7002T>G (p.Tyr2334Ter) c.201T>G | ClinVar dbSNP |
| 17 | g.1650808A>G | CA8271032 | PRPF8 | c.6822T>C (p.Tyr2274=) c.2750T>C c.*6725T>C (n.*6725T>C) n.3316T>C c.6855T>C (p.Tyr2285=) c.6867T>C (p.Tyr2289=) c.7002T>C (p.Tyr2334=) c.201T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1650808A>T | CA397561675 | PRPF8 | c.6822T>A (p.Tyr2274Ter) c.2750T>A c.*6725T>A (n.*6725T>A) n.3316T>A c.6855T>A (p.Tyr2285Ter) c.6867T>A (p.Tyr2289Ter) c.7002T>A (p.Tyr2334Ter) c.201T>A | |
| 17 | g.1650809T>A | CA397561683 | PRPF8 | c.6821A>T (p.Tyr2274Phe) c.2749A>T c.*6724A>T (n.*6724A>T) n.3315A>T c.6854A>T (p.Tyr2285Phe) c.6866A>T (p.Tyr2289Phe) c.7001A>T (p.Tyr2334Phe) c.200A>T | |
| 17 | g.1650809T>C | CA397561685 | PRPF8 | c.6821A>G (p.Tyr2274Cys) c.2749A>G c.*6724A>G (n.*6724A>G) n.3315A>G c.6854A>G (p.Tyr2285Cys) c.6866A>G (p.Tyr2289Cys) c.7001A>G (p.Tyr2334Cys) c.200A>G | |
| 17 | g.1650809T>G | CA397561688 | PRPF8 | c.6821A>C (p.Tyr2274Ser) c.2749A>C c.*6724A>C (n.*6724A>C) n.3315A>C c.6854A>C (p.Tyr2285Ser) c.6866A>C (p.Tyr2289Ser) c.7001A>C (p.Tyr2334Ser) c.200A>C | |
| 17 | g.1650809_1650816delinsGAGTAAA | CA2695224065 | PRPF8 | c.6814_6821delinsTTTACTC (p.Asp2272PhefsTer27) c.2742_2749delinsTTTACTC c.*6717_*6724delinsTTTACTC (n.*6717_*6724delinsTTTACTC) n.3308_3315delinsTTTACTC c.6847_6854delinsTTTACTC (p.Asp2283PhefsTer27) c.6859_6866delinsTTTACTC (p.Asp2287PhefsTer?) c.6994_7001delinsTTTACTC (p.Asp2332PhefsTer27) c.193_200delinsTTTACTC | |
| 17 | g.1650810A= | CA2242977176 | PRPF8 | c.6820T= (p.Tyr2274=) c.2748T= c.*6723T= (n.*6723T=) n.3314T= c.6853T= (p.Tyr2285=) c.6865T= (p.Tyr2289=) c.7000T= (p.Tyr2334=) c.199T= | |
| 17 | g.1650810A>C | CA397561691 | PRPF8 | c.6820T>G (p.Tyr2274Asp) c.2748T>G c.*6723T>G (n.*6723T>G) n.3314T>G c.6853T>G (p.Tyr2285Asp) c.6865T>G (p.Tyr2289Asp) c.7000T>G (p.Tyr2334Asp) c.199T>G | |
| 17 | g.1650810A>G | CA397561695 | PRPF8 | c.6820T>C (p.Tyr2274His) c.2748T>C c.*6723T>C (n.*6723T>C) n.3314T>C c.6853T>C (p.Tyr2285His) c.6865T>C (p.Tyr2289His) c.7000T>C (p.Tyr2334His) c.199T>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.1650810A>T | CA397561696 | PRPF8 | c.6820T>A (p.Tyr2274Asn) c.2748T>A c.*6723T>A (n.*6723T>A) n.3314T>A c.6853T>A (p.Tyr2285Asn) c.6865T>A (p.Tyr2289Asn) c.7000T>A (p.Tyr2334Asn) c.199T>A | ClinVar dbSNP |
| 17 | g.1650810dup | CA2695224067 | PRPF8 | c.6820dup (p.Tyr2274LeufsTer?) c.2748dup c.*6723dup (n.*6723dup) n.3314dup c.6853dup (p.Tyr2285LeufsTer?) c.6865dup (p.Tyr2289LeufsTer?) c.7000dup (p.Tyr2334LeufsTer?) c.199dup | |
| 17 | g.1650810_1650813del | CA2695224066 | PRPF8 | c.6817_6820del (p.Leu2273MetfsTer25) c.2745_2748del c.*6720_*6723del (n.*6720_*6723del) n.3311_3314del c.6850_6853del (p.Leu2284MetfsTer25) c.6862_6865del (p.Leu2288MetfsTer?) c.6997_7000del (p.Leu2333MetfsTer25) c.196_199del | |
| 17 | g.1650811C>A | CA497291379 | PRPF8 | c.6819G>T (p.Leu2273=) c.2747G>T c.*6722G>T (n.*6722G>T) n.3313G>T c.6852G>T (p.Leu2284=) c.6864G>T (p.Leu2288=) c.6999G>T (p.Leu2333=) c.198G>T | |
| 17 | g.1650811C= | CA2242977183 | PRPF8 | c.6819G= (p.Leu2273=) c.2747G= c.*6722G= (n.*6722G=) n.3313G= c.6852G= (p.Leu2284=) c.6864G= (p.Leu2288=) c.6999G= (p.Leu2333=) c.198G= | |
| 17 | g.1650811C>G | CA497291381 | PRPF8 | c.6819G>C (p.Leu2273=) c.2747G>C c.*6722G>C (n.*6722G>C) n.3313G>C c.6852G>C (p.Leu2284=) c.6864G>C (p.Leu2288=) c.6999G>C (p.Leu2333=) c.198G>C | |
| 17 | g.1650811C>T | CA8271033 | PRPF8 | c.6819G>A (p.Leu2273=) c.2747G>A c.*6722G>A (n.*6722G>A) n.3313G>A c.6852G>A (p.Leu2284=) c.6864G>A (p.Leu2288=) c.6999G>A (p.Leu2333=) c.198G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650814_1650830del | CA2559566339 | PRPF8 | c.6803_6819del (p.Ala2268ValfsTer?) c.2731_2747del c.*6706_*6722del (n.*6706_*6722del) n.3297_3313del c.6836_6852del (p.Ala2279ValfsTer?) c.6848_6864del (p.Ala2283ValfsTer?) c.6983_6999del (p.Ala2328ValfsTer?) c.182_198del | |
| 17 | g.1650812A= | CA2242977186 | PRPF8 | c.6818T= (p.Leu2273=) c.2746T= c.*6721T= (n.*6721T=) n.3312T= c.6851T= (p.Leu2284=) c.6863T= (p.Leu2288=) c.6998T= (p.Leu2333=) c.197T= | |
| 17 | g.1650812A>C | CA397561699 | PRPF8 | c.6818T>G (p.Leu2273Arg) c.2746T>G c.*6721T>G (n.*6721T>G) n.3312T>G c.6851T>G (p.Leu2284Arg) c.6863T>G (p.Leu2288Arg) c.6998T>G (p.Leu2333Arg) c.197T>G | |
| 17 | g.1650812A>G | CA397561701 | PRPF8 | c.6818T>C (p.Leu2273Pro) c.2746T>C c.*6721T>C (n.*6721T>C) n.3312T>C c.6851T>C (p.Leu2284Pro) c.6863T>C (p.Leu2288Pro) c.6998T>C (p.Leu2333Pro) c.197T>C | gnomAD v4 |
| 17 | g.1650812A>T | CA8271034 | PRPF8 | c.6818T>A (p.Leu2273Gln) c.2746T>A c.*6721T>A (n.*6721T>A) n.3312T>A c.6851T>A (p.Leu2284Gln) c.6863T>A (p.Leu2288Gln) c.6998T>A (p.Leu2333Gln) c.197T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650813G>A | CA497291385 | PRPF8 | c.6817C>T (p.Leu2273=) c.2745C>T c.*6720C>T (n.*6720C>T) n.3311C>T c.6850C>T (p.Leu2284=) c.6862C>T (p.Leu2288=) c.6997C>T (p.Leu2333=) c.196C>T | gnomAD v4 COSMIC |
| 17 | g.1650813G>C | CA397561703 | PRPF8 | c.6817C>G (p.Leu2273Val) c.2745C>G c.*6720C>G (n.*6720C>G) n.3311C>G c.6850C>G (p.Leu2284Val) c.6862C>G (p.Leu2288Val) c.6997C>G (p.Leu2333Val) c.196C>G | gnomAD v4 |
| 17 | g.1650813G>T | CA397561705 | PRPF8 | c.6817C>A (p.Leu2273Met) c.2745C>A c.*6720C>A (n.*6720C>A) n.3311C>A c.6850C>A (p.Leu2284Met) c.6862C>A (p.Leu2288Met) c.6997C>A (p.Leu2333Met) c.196C>A | |
| 17 | g.1650814del | CA2695224068 | PRPF8 | c.6817del (p.Leu2273CysfsTer26) c.2745del c.*6720del (n.*6720del) n.3311del c.6850del (p.Leu2284CysfsTer26) c.6862del (p.Leu2288CysfsTer?) c.6997del (p.Leu2333CysfsTer26) c.196del | |
| 17 | g.1650814G>A | CA497291389 | PRPF8 | c.6816C>T (p.Asp2272=) c.2744C>T c.*6719C>T (n.*6719C>T) n.3310C>T c.6849C>T (p.Asp2283=) c.6861C>T (p.Asp2287=) c.6996C>T (p.Asp2332=) c.195C>T | dbSNP gnomAD v4 |
| 17 | g.1650814G>C | CA397561707 | PRPF8 | c.6816C>G (p.Asp2272Glu) c.2744C>G c.*6719C>G (n.*6719C>G) n.3310C>G c.6849C>G (p.Asp2283Glu) c.6861C>G (p.Asp2287Glu) c.6996C>G (p.Asp2332Glu) c.195C>G | |
| 17 | g.1650814G= | CA2242977190 | PRPF8 | c.6816C= (p.Asp2272=) c.2744C= c.*6719C= (n.*6719C=) n.3310C= c.6849C= (p.Asp2283=) c.6861C= (p.Asp2287=) c.6996C= (p.Asp2332=) c.195C= | |
| 17 | g.1650814G>T | CA397561709 | PRPF8 | c.6816C>A (p.Asp2272Glu) c.2744C>A c.*6719C>A (n.*6719C>A) n.3310C>A c.6849C>A (p.Asp2283Glu) c.6861C>A (p.Asp2287Glu) c.6996C>A (p.Asp2332Glu) c.195C>A | ClinVar dbSNP |
| 17 | g.1650815T>A | CA397561712 | PRPF8 | c.6815A>T (p.Asp2272Val) c.2743A>T c.*6718A>T (n.*6718A>T) n.3309A>T c.6848A>T (p.Asp2283Val) c.6860A>T (p.Asp2287Val) c.6995A>T (p.Asp2332Val) c.194A>T | |
| 17 | g.1650815T>C | CA397561718 | PRPF8 | c.6815A>G (p.Asp2272Gly) c.2743A>G c.*6718A>G (n.*6718A>G) n.3309A>G c.6848A>G (p.Asp2283Gly) c.6860A>G (p.Asp2287Gly) c.6995A>G (p.Asp2332Gly) c.194A>G | |
| 17 | g.1650815T>G | CA397561714 | PRPF8 | c.6815A>C (p.Asp2272Ala) c.2743A>C c.*6718A>C (n.*6718A>C) n.3309A>C c.6848A>C (p.Asp2283Ala) c.6860A>C (p.Asp2287Ala) c.6995A>C (p.Asp2332Ala) c.194A>C | |
| 17 | g.1650815T= | CA2242977192 | PRPF8 | c.6815A= (p.Asp2272=) c.2743A= c.*6718A= (n.*6718A=) n.3309A= c.6848A= (p.Asp2283=) c.6860A= (p.Asp2287=) c.6995A= (p.Asp2332=) c.194A= | |
| 17 | g.1650815_1650836delinsTCCTCCCGATCCGCAGAGTAAA | CA2242977194 | PRPF8 | c.6794_6815delinsTTTACTCTGCGGATCGGGAGGA (p.Val2265=) c.2722_2743delinsTTTACTCTGCGGATCGGGAGGA c.*6697_*6718delinsTTTACTCTGCGGATCGGGAGGA (n.*6697_*6718delinsTTTACTCTGCGGATCGGGAGGA) n.3288_3309delinsTTTACTCTGCGGATCGGGAGGA c.6827_6848delinsTTTACTCTGCGGATCGGGAGGA (p.Val2276=) c.6839_6860delinsTTTACTCTGCGGATCGGGAGGA (p.Val2280=) c.6974_6995delinsTTTACTCTGCGGATCGGGAGGA (p.Val2325=) c.173_194delinsTTTACTCTGCGGATCGGGAGGA | |
| 17 | g.1650816C>A | CA397561721 | PRPF8 | c.6814G>T (p.Asp2272Tyr) c.2742G>T c.*6717G>T (n.*6717G>T) n.3308G>T c.6847G>T (p.Asp2283Tyr) c.6859G>T (p.Asp2287Tyr) c.6994G>T (p.Asp2332Tyr) c.193G>T | ClinVar |
| 17 | g.1650816C>G | CA397561723 | PRPF8 | c.6814G>C (p.Asp2272His) c.2742G>C c.*6717G>C (n.*6717G>C) n.3308G>C c.6847G>C (p.Asp2283His) c.6859G>C (p.Asp2287His) c.6994G>C (p.Asp2332His) c.193G>C | |
| 17 | g.1650816C>T | CA397561725 | PRPF8 | c.6814G>A (p.Asp2272Asn) c.2742G>A c.*6717G>A (n.*6717G>A) n.3308G>A c.6847G>A (p.Asp2283Asn) c.6859G>A (p.Asp2287Asn) c.6994G>A (p.Asp2332Asn) c.193G>A | |
| 17 | g.1650817dup | CA915949452 | PRPF8 | c.6814dup (p.Asp2272GlyfsTer?) c.2742dup c.*6717dup (n.*6717dup) n.3308dup c.6847dup (p.Asp2283GlyfsTer?) c.6859dup (p.Asp2287GlyfsTer?) c.6994dup (p.Asp2332GlyfsTer?) c.193dup | ClinVar dbSNP |
| 17 | g.1650822_1650842del | CA1139665056 | PRPF8 | c.6794_6814del (p.Val2265_Glu2271del) c.2722_2742del c.*6697_*6717del (n.*6697_*6717del) n.3288_3308del c.6827_6847del (p.Val2276_Glu2282del) c.6839_6859del (p.Val2280_Glu2286del) c.6974_6994del (p.Val2325_Glu2331del) c.173_193del | ClinVar dbSNP |
| 17 | g.1650817C>A | CA397561728 | PRPF8 | c.6813G>T (p.Glu2271Asp) c.2741G>T c.*6716G>T (n.*6716G>T) n.3307G>T c.6846G>T (p.Glu2282Asp) c.6858G>T (p.Glu2286Asp) c.6993G>T (p.Glu2331Asp) c.192G>T | |
| 17 | g.1650817C>G | CA397561729 | PRPF8 | c.6813G>C (p.Glu2271Asp) c.2741G>C c.*6716G>C (n.*6716G>C) n.3307G>C c.6846G>C (p.Glu2282Asp) c.6858G>C (p.Glu2286Asp) c.6993G>C (p.Glu2331Asp) c.192G>C | |
| 17 | g.1650817C>T | CA497291398 | PRPF8 | c.6813G>A (p.Glu2271=) c.2741G>A c.*6716G>A (n.*6716G>A) n.3307G>A c.6846G>A (p.Glu2282=) c.6858G>A (p.Glu2286=) c.6993G>A (p.Glu2331=) c.192G>A | |
| 17 | g.1650818T>A | CA397561731 | PRPF8 | c.6812A>T (p.Glu2271Val) c.2740A>T c.*6715A>T (n.*6715A>T) n.3306A>T c.6845A>T (p.Glu2282Val) c.6857A>T (p.Glu2286Val) c.6992A>T (p.Glu2331Val) c.191A>T | |
| 17 | g.1650818T>C | CA397561732 | PRPF8 | c.6812A>G (p.Glu2271Gly) c.2740A>G c.*6715A>G (n.*6715A>G) n.3306A>G c.6845A>G (p.Glu2282Gly) c.6857A>G (p.Glu2286Gly) c.6992A>G (p.Glu2331Gly) c.191A>G | |
| 17 | g.1650818T>G | CA397561734 | PRPF8 | c.6812A>C (p.Glu2271Ala) c.2740A>C c.*6715A>C (n.*6715A>C) n.3306A>C c.6845A>C (p.Glu2282Ala) c.6857A>C (p.Glu2286Ala) c.6992A>C (p.Glu2331Ala) c.191A>C | |
| 17 | g.1650818_1650819delinsTC | CA2242977200 | PRPF8 | c.6811_6812delinsGA (p.Glu2271=) c.2739_2740delinsGA c.*6714_*6715delinsGA (n.*6714_*6715delinsGA) n.3305_3306delinsGA c.6844_6845delinsGA (p.Glu2282=) c.6856_6857delinsGA (p.Glu2286=) c.6991_6992delinsGA (p.Glu2331=) c.190_191delinsGA | |
| 17 | g.1650819C>A | CA397561736 | PRPF8 | c.6811G>T (p.Glu2271Ter) c.2739G>T c.*6714G>T (n.*6714G>T) n.3305G>T c.6844G>T (p.Glu2282Ter) c.6856G>T (p.Glu2286Ter) c.6991G>T (p.Glu2331Ter) c.190G>T | ClinVar dbSNP |
| 17 | g.1650819C= | CA2242977207 | PRPF8 | c.6811G= (p.Glu2271=) c.2739G= c.*6714G= (n.*6714G=) n.3305G= c.6844G= (p.Glu2282=) c.6856G= (p.Glu2286=) c.6991G= (p.Glu2331=) c.190G= | |
| 17 | g.1650819C>G | CA397561737 | PRPF8 | c.6811G>C (p.Glu2271Gln) c.2739G>C c.*6714G>C (n.*6714G>C) n.3305G>C c.6844G>C (p.Glu2282Gln) c.6856G>C (p.Glu2286Gln) c.6991G>C (p.Glu2331Gln) c.190G>C | |
| 17 | g.1650819C>T | CA397561739 | PRPF8 | c.6811G>A (p.Glu2271Lys) c.2739G>A c.*6714G>A (n.*6714G>A) n.3305G>A c.6844G>A (p.Glu2282Lys) c.6856G>A (p.Glu2286Lys) c.6991G>A (p.Glu2331Lys) c.190G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.1650821del | CA1139665057 | PRPF8 | c.6811del (p.Glu2271ArgfsTer28) c.2739del c.*6714del (n.*6714del) n.3305del c.6844del (p.Glu2282ArgfsTer28) c.6856del (p.Glu2286ArgfsTer?) c.6991del (p.Glu2331ArgfsTer28) c.190del | ClinVar dbSNP |
| 17 | g.1650820C>A | CA497291405 | PRPF8 | c.6810G>T (p.Arg2270=) c.2738G>T c.*6713G>T (n.*6713G>T) n.3304G>T c.6843G>T (p.Arg2281=) c.6855G>T (p.Arg2285=) c.6990G>T (p.Arg2330=) c.189G>T | |
| 17 | g.1650820C>G | CA497291407 | PRPF8 | c.6810G>C (p.Arg2270=) c.2738G>C c.*6713G>C (n.*6713G>C) n.3304G>C c.6843G>C (p.Arg2281=) c.6855G>C (p.Arg2285=) c.6990G>C (p.Arg2330=) c.189G>C | |
| 17 | g.1650820C>T | CA497291409 | PRPF8 | c.6810G>A (p.Arg2270=) c.2738G>A c.*6713G>A (n.*6713G>A) n.3304G>A c.6843G>A (p.Arg2281=) c.6855G>A (p.Arg2285=) c.6990G>A (p.Arg2330=) c.189G>A | |
| 17 | g.1650823_1650827dup | CA2573152962 | PRPF8 | c.6806_6810dup (p.Glu2271IlefsTer30) c.2734_2738dup c.*6709_*6713dup (n.*6709_*6713dup) n.3300_3304dup c.6839_6843dup (p.Glu2282IlefsTer30) c.6851_6855dup (p.Glu2286IlefsTer?) c.6986_6990dup (p.Glu2331IlefsTer30) c.185_189dup | ClinVar dbSNP |
| 17 | g.1650821C>A | CA397561743 | PRPF8 | c.6809G>T (p.Arg2270Leu) c.2737G>T c.*6712G>T (n.*6712G>T) n.3303G>T c.6842G>T (p.Arg2281Leu) c.6854G>T (p.Arg2285Leu) c.6989G>T (p.Arg2330Leu) c.188G>T | gnomAD v4 |
| 17 | g.1650821C= | CA2242977215 | PRPF8 | c.6809G= (p.Arg2270=) c.2737G= c.*6712G= (n.*6712G=) n.3303G= c.6842G= (p.Arg2281=) c.6854G= (p.Arg2285=) c.6989G= (p.Arg2330=) c.188G= | |
| 17 | g.1650821C>G | CA397561740 | PRPF8 | c.6809G>C (p.Arg2270Pro) c.2737G>C c.*6712G>C (n.*6712G>C) n.3303G>C c.6842G>C (p.Arg2281Pro) c.6854G>C (p.Arg2285Pro) c.6989G>C (p.Arg2330Pro) c.188G>C | ClinVar dbSNP gnomAD v4 |
| 17 | g.1650821C>T | CA397561741 | PRPF8 | c.6809G>A (p.Arg2270Gln) c.2737G>A c.*6712G>A (n.*6712G>A) n.3303G>A c.6842G>A (p.Arg2281Gln) c.6854G>A (p.Arg2285Gln) c.6989G>A (p.Arg2330Gln) c.188G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.1650822G>A | CA286849438 | PRPF8 | c.6808C>T (p.Arg2270Trp) c.2736C>T c.*6711C>T (n.*6711C>T) n.3302C>T c.6841C>T (p.Arg2281Trp) c.6853C>T (p.Arg2285Trp) c.6988C>T (p.Arg2330Trp) c.187C>T | dbSNP gnomAD v4 |
| 17 | g.1650822G>C | CA397561745 | PRPF8 | c.6808C>G (p.Arg2270Gly) c.2736C>G c.*6711C>G (n.*6711C>G) n.3302C>G c.6841C>G (p.Arg2281Gly) c.6853C>G (p.Arg2285Gly) c.6988C>G (p.Arg2330Gly) c.187C>G | gnomAD v4 |
| 17 | g.1650822G= | CA2242977219 | PRPF8 | c.6808C= (p.Arg2270=) c.2736C= c.*6711C= (n.*6711C=) n.3302C= c.6841C= (p.Arg2281=) c.6853C= (p.Arg2285=) c.6988C= (p.Arg2330=) c.187C= | |
| 17 | g.1650822G>T | CA497291414 | PRPF8 | c.6808C>A (p.Arg2270=) c.2736C>A c.*6711C>A (n.*6711C>A) n.3302C>A c.6841C>A (p.Arg2281=) c.6853C>A (p.Arg2285=) c.6988C>A (p.Arg2330=) c.187C>A | |
| 17 | g.1650823A>C | CA397561747 | PRPF8 | c.6807T>G (p.Asp2269Glu) c.2735T>G c.*6710T>G (n.*6710T>G) n.3301T>G c.6840T>G (p.Asp2280Glu) c.6852T>G (p.Asp2284Glu) c.6987T>G (p.Asp2329Glu) c.186T>G | |
| 17 | g.1650823A>G | CA497291417 | PRPF8 | c.6807T>C (p.Asp2269=) c.2735T>C c.*6710T>C (n.*6710T>C) n.3301T>C c.6840T>C (p.Asp2280=) c.6852T>C (p.Asp2284=) c.6987T>C (p.Asp2329=) c.186T>C | |
| 17 | g.1650823A>T | CA397561748 | PRPF8 | c.6807T>A (p.Asp2269Glu) c.2735T>A c.*6710T>A (n.*6710T>A) n.3301T>A c.6840T>A (p.Asp2280Glu) c.6852T>A (p.Asp2284Glu) c.6987T>A (p.Asp2329Glu) c.186T>A | |
| 17 | g.1650824T>A | CA397561750 | PRPF8 | c.6806A>T (p.Asp2269Val) c.2734A>T c.*6709A>T (n.*6709A>T) n.3300A>T c.6839A>T (p.Asp2280Val) c.6851A>T (p.Asp2284Val) c.6986A>T (p.Asp2329Val) c.185A>T | |
| 17 | g.1650824T>C | CA397561752 | PRPF8 | c.6806A>G (p.Asp2269Gly) c.2734A>G c.*6709A>G (n.*6709A>G) n.3300A>G c.6839A>G (p.Asp2280Gly) c.6851A>G (p.Asp2284Gly) c.6986A>G (p.Asp2329Gly) c.185A>G | |
| 17 | g.1650824T>G | CA397561753 | PRPF8 | c.6806A>C (p.Asp2269Ala) c.2734A>C c.*6709A>C (n.*6709A>C) n.3300A>C c.6839A>C (p.Asp2280Ala) c.6851A>C (p.Asp2284Ala) c.6986A>C (p.Asp2329Ala) c.185A>C | |
| 17 | g.1650825C>A | CA397561754 | PRPF8 | c.6805G>T (p.Asp2269Tyr) c.2733G>T c.*6708G>T (n.*6708G>T) n.3299G>T c.6838G>T (p.Asp2280Tyr) c.6850G>T (p.Asp2284Tyr) c.6985G>T (p.Asp2329Tyr) c.184G>T | |
| 17 | g.1650825C= | CA2242977221 | PRPF8 | c.6805G= (p.Asp2269=) c.2733G= c.*6708G= (n.*6708G=) n.3299G= c.6838G= (p.Asp2280=) c.6850G= (p.Asp2284=) c.6985G= (p.Asp2329=) c.184G= | |
| 17 | g.1650825C>G | CA397561755 | PRPF8 | c.6805G>C (p.Asp2269His) c.2733G>C c.*6708G>C (n.*6708G>C) n.3299G>C c.6838G>C (p.Asp2280His) c.6850G>C (p.Asp2284His) c.6985G>C (p.Asp2329His) c.184G>C | |
| 17 | g.1650825C>T | CA397561756 | PRPF8 | c.6805G>A (p.Asp2269Asn) c.2733G>A c.*6708G>A (n.*6708G>A) n.3299G>A c.6838G>A (p.Asp2280Asn) c.6850G>A (p.Asp2284Asn) c.6985G>A (p.Asp2329Asn) c.184G>A | dbSNP gnomAD v4 |
| 17 | g.1650826C>A | CA497291425 | PRPF8 | c.6804G>T (p.Ala2268=) c.2732G>T c.*6707G>T (n.*6707G>T) n.3298G>T c.6837G>T (p.Ala2279=) c.6849G>T (p.Ala2283=) c.6984G>T (p.Ala2328=) c.183G>T | |
| 17 | g.1650826C= | CA2242977224 | PRPF8 | c.6804G= (p.Ala2268=) c.2732G= c.*6707G= (n.*6707G=) n.3298G= c.6837G= (p.Ala2279=) c.6849G= (p.Ala2283=) c.6984G= (p.Ala2328=) c.183G= | |
| 17 | g.1650826C>G | CA497291428 | PRPF8 | c.6804G>C (p.Ala2268=) c.2732G>C c.*6707G>C (n.*6707G>C) n.3298G>C c.6837G>C (p.Ala2279=) c.6849G>C (p.Ala2283=) c.6984G>C (p.Ala2328=) c.183G>C | |
| 17 | g.1650826C>T | CA8271035 | PRPF8 | c.6804G>A (p.Ala2268=) c.2732G>A c.*6707G>A (n.*6707G>A) n.3298G>A c.6837G>A (p.Ala2279=) c.6849G>A (p.Ala2283=) c.6984G>A (p.Ala2328=) c.183G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650827G>A | CA8271036 | PRPF8 | c.6803C>T (p.Ala2268Val) c.2731C>T c.*6706C>T (n.*6706C>T) n.3297C>T c.6836C>T (p.Ala2279Val) c.6848C>T (p.Ala2283Val) c.6983C>T (p.Ala2328Val) c.182C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650827G>C | CA397561757 | PRPF8 | c.6803C>G (p.Ala2268Gly) c.2731C>G c.*6706C>G (n.*6706C>G) n.3297C>G c.6836C>G (p.Ala2279Gly) c.6848C>G (p.Ala2283Gly) c.6983C>G (p.Ala2328Gly) c.182C>G | |
| 17 | g.1650827G= | CA2242977229 | PRPF8 | c.6803C= (p.Ala2268=) c.2731C= c.*6706C= (n.*6706C=) n.3297C= c.6836C= (p.Ala2279=) c.6848C= (p.Ala2283=) c.6983C= (p.Ala2328=) c.182C= | |
| 17 | g.1650827G>T | CA397561758 | PRPF8 | c.6803C>A (p.Ala2268Glu) c.2731C>A c.*6706C>A (n.*6706C>A) n.3297C>A c.6836C>A (p.Ala2279Glu) c.6848C>A (p.Ala2283Glu) c.6983C>A (p.Ala2328Glu) c.182C>A | |
| 17 | g.1650828C>A | CA397561763 | PRPF8 | c.6802G>T (p.Ala2268Ser) c.2730G>T c.*6705G>T (n.*6705G>T) n.3296G>T c.6835G>T (p.Ala2279Ser) c.6847G>T (p.Ala2283Ser) c.6982G>T (p.Ala2328Ser) c.181G>T | |
| 17 | g.1650828C>G | CA397561762 | PRPF8 | c.6802G>C (p.Ala2268Pro) c.2730G>C c.*6705G>C (n.*6705G>C) n.3296G>C c.6835G>C (p.Ala2279Pro) c.6847G>C (p.Ala2283Pro) c.6982G>C (p.Ala2328Pro) c.181G>C | |
| 17 | g.1650828C>T | CA397561760 | PRPF8 | c.6802G>A (p.Ala2268Thr) c.2730G>A c.*6705G>A (n.*6705G>A) n.3296G>A c.6835G>A (p.Ala2279Thr) c.6847G>A (p.Ala2283Thr) c.6982G>A (p.Ala2328Thr) c.181G>A | |
| 17 | g.1650829A>C | CA497291435 | PRPF8 | c.6801T>G (p.Ser2267=) c.2729T>G c.*6704T>G (n.*6704T>G) n.3295T>G c.6834T>G (p.Ser2278=) c.6846T>G (p.Ser2282=) c.6981T>G (p.Ser2327=) c.180T>G | |
| 17 | g.1650829A>G | CA497291437 | PRPF8 | c.6801T>C (p.Ser2267=) c.2729T>C c.*6704T>C (n.*6704T>C) n.3295T>C c.6834T>C (p.Ser2278=) c.6846T>C (p.Ser2282=) c.6981T>C (p.Ser2327=) c.180T>C | ClinVar gnomAD v4 |
| 17 | g.1650829A>T | CA497291439 | PRPF8 | c.6801T>A (p.Ser2267=) c.2729T>A c.*6704T>A (n.*6704T>A) n.3295T>A c.6834T>A (p.Ser2278=) c.6846T>A (p.Ser2282=) c.6981T>A (p.Ser2327=) c.180T>A | |
| 17 | g.1650829dup | CA2695224069 | PRPF8 | c.6801dup (p.Ala2268CysfsTer?) c.2729dup c.*6704dup (n.*6704dup) n.3295dup c.6834dup (p.Ala2279CysfsTer?) c.6846dup (p.Ala2283CysfsTer?) c.6981dup (p.Ala2328CysfsTer?) c.180dup | |
| 17 | g.1650830G>A | CA8271038 | PRPF8 | c.6800C>T (p.Ser2267Phe) c.2728C>T c.*6703C>T (n.*6703C>T) n.3294C>T c.6833C>T (p.Ser2278Phe) c.6845C>T (p.Ser2282Phe) c.6980C>T (p.Ser2327Phe) c.179C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1650830G>C | CA8271037 | PRPF8 | c.6800C>G (p.Ser2267Cys) c.2728C>G c.*6703C>G (n.*6703C>G) n.3294C>G c.6833C>G (p.Ser2278Cys) c.6845C>G (p.Ser2282Cys) c.6980C>G (p.Ser2327Cys) c.179C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1650830G= | CA2242977234 | PRPF8 | c.6800C= (p.Ser2267=) c.2728C= c.*6703C= (n.*6703C=) n.3294C= c.6833C= (p.Ser2278=) c.6845C= (p.Ser2282=) c.6980C= (p.Ser2327=) c.179C= | |
| 17 | g.1650830G>T | CA397561764 | PRPF8 | c.6800C>A (p.Ser2267Tyr) c.2728C>A c.*6703C>A (n.*6703C>A) n.3294C>A c.6833C>A (p.Ser2278Tyr) c.6845C>A (p.Ser2282Tyr) c.6980C>A (p.Ser2327Tyr) c.179C>A | |
| 17 | g.1650831A>C | CA397561765 | PRPF8 | c.6799T>G (p.Ser2267Ala) c.2727T>G c.*6702T>G (n.*6702T>G) n.3293T>G c.6832T>G (p.Ser2278Ala) c.6844T>G (p.Ser2282Ala) c.6979T>G (p.Ser2327Ala) c.178T>G | |
| 17 | g.1650831A>G | CA397561769 | PRPF8 | c.6799T>C (p.Ser2267Pro) c.2727T>C c.*6702T>C (n.*6702T>C) n.3293T>C c.6832T>C (p.Ser2278Pro) c.6844T>C (p.Ser2282Pro) c.6979T>C (p.Ser2327Pro) c.178T>C | |
| 17 | g.1650831A>T | CA397561771 | PRPF8 | c.6799T>A (p.Ser2267Thr) c.2727T>A c.*6702T>A (n.*6702T>A) n.3293T>A c.6832T>A (p.Ser2278Thr) c.6844T>A (p.Ser2282Thr) c.6979T>A (p.Ser2327Thr) c.178T>A | |
| 17 | g.1650832G>A | CA8271039 | PRPF8 | c.6798C>T (p.Tyr2266=) c.2726C>T c.*6701C>T (n.*6701C>T) n.3292C>T c.6831C>T (p.Tyr2277=) c.6843C>T (p.Tyr2281=) c.6978C>T (p.Tyr2326=) c.177C>T | dbSNP ExAC gnomAD v4 |
| 17 | g.1650832G>C | CA397561775 | PRPF8 | c.6798C>G (p.Tyr2266Ter) c.2726C>G c.*6701C>G (n.*6701C>G) n.3292C>G c.6831C>G (p.Tyr2277Ter) c.6843C>G (p.Tyr2281Ter) c.6978C>G (p.Tyr2326Ter) c.177C>G | ClinVar dbSNP |
| 17 | g.1650832G= | CA2242977237 | PRPF8 | c.6798C= (p.Tyr2266=) c.2726C= c.*6701C= (n.*6701C=) n.3292C= c.6831C= (p.Tyr2277=) c.6843C= (p.Tyr2281=) c.6978C= (p.Tyr2326=) c.177C= | |
| 17 | g.1650832G>T | CA397561777 | PRPF8 | c.6798C>A (p.Tyr2266Ter) c.2726C>A c.*6701C>A (n.*6701C>A) n.3292C>A c.6831C>A (p.Tyr2277Ter) c.6843C>A (p.Tyr2281Ter) c.6978C>A (p.Tyr2326Ter) c.177C>A | |
| 17 | g.1650833T>A | CA397561779 | PRPF8 | c.6797A>T (p.Tyr2266Phe) c.2725A>T c.*6700A>T (n.*6700A>T) n.3291A>T c.6830A>T (p.Tyr2277Phe) c.6842A>T (p.Tyr2281Phe) c.6977A>T (p.Tyr2326Phe) c.176A>T | gnomAD v4 |
| 17 | g.1650833T>C | CA397561781 | PRPF8 | c.6797A>G (p.Tyr2266Cys) c.2725A>G c.*6700A>G (n.*6700A>G) n.3291A>G c.6830A>G (p.Tyr2277Cys) c.6842A>G (p.Tyr2281Cys) c.6977A>G (p.Tyr2326Cys) c.176A>G | |
| 17 | g.1650833T>G | CA397561783 | PRPF8 | c.6797A>C (p.Tyr2266Ser) c.2725A>C c.*6700A>C (n.*6700A>C) n.3291A>C c.6830A>C (p.Tyr2277Ser) c.6842A>C (p.Tyr2281Ser) c.6977A>C (p.Tyr2326Ser) c.176A>C | gnomAD v4 |
| 17 | g.1650833dup | CA2695224071 | PRPF8 | c.6797dup (p.Tyr2266Ter) c.2725dup c.*6700dup (n.*6700dup) n.3291dup c.6830dup (p.Tyr2277Ter) c.6842dup (p.Tyr2281Ter) c.6977dup (p.Tyr2326Ter) c.176dup | |
| 17 | g.1650833_1650838delinsAGCAGAGGGTT | CA2695224070 | PRPF8 | c.6792_6797delinsAACCCTCTGCT (p.Val2265ThrfsTer?) c.2720_2725delinsAACCCTCTGCT c.*6695_*6700delinsAACCCTCTGCT (n.*6695_*6700delinsAACCCTCTGCT) n.3286_3291delinsAACCCTCTGCT c.6825_6830delinsAACCCTCTGCT (p.Val2276ThrfsTer?) c.6837_6842delinsAACCCTCTGCT (p.Val2280ThrfsTer?) c.6972_6977delinsAACCCTCTGCT (p.Val2325ThrfsTer?) c.171_176delinsAACCCTCTGCT | |
| 17 | g.1650834A>C | CA397561785 | PRPF8 | c.6796T>G (p.Tyr2266Asp) c.2724T>G c.*6699T>G (n.*6699T>G) n.3290T>G c.6829T>G (p.Tyr2277Asp) c.6841T>G (p.Tyr2281Asp) c.6976T>G (p.Tyr2326Asp) c.175T>G | |
| 17 | g.1650834A>G | CA397561787 | PRPF8 | c.6796T>C (p.Tyr2266His) c.2724T>C c.*6699T>C (n.*6699T>C) n.3290T>C c.6829T>C (p.Tyr2277His) c.6841T>C (p.Tyr2281His) c.6976T>C (p.Tyr2326His) c.175T>C | |
| 17 | g.1650834A>T | CA397561789 | PRPF8 | c.6796T>A (p.Tyr2266Asn) c.2724T>A c.*6699T>A (n.*6699T>A) n.3290T>A c.6829T>A (p.Tyr2277Asn) c.6841T>A (p.Tyr2281Asn) c.6976T>A (p.Tyr2326Asn) c.175T>A | |
| 17 | g.1650836del | CA2580092433 | PRPF8 | c.6796del (p.Tyr2266ThrfsTer?) c.2724del c.*6699del (n.*6699del) n.3290del c.6829del (p.Tyr2277ThrfsTer?) c.6841del (p.Tyr2281ThrfsTer?) c.6976del (p.Tyr2326ThrfsTer?) c.175del | ClinVar |
| 17 | g.1650835A>C | CA497291452 | PRPF8 | c.6795T>G (p.Val2265=) c.2723T>G c.*6698T>G (n.*6698T>G) n.3289T>G c.6828T>G (p.Val2276=) c.6840T>G (p.Val2280=) c.6975T>G (p.Val2325=) c.174T>G | |
| 17 | g.1650835A>G | CA497291453 | PRPF8 | c.6795T>C (p.Val2265=) c.2723T>C c.*6698T>C (n.*6698T>C) n.3289T>C c.6828T>C (p.Val2276=) c.6840T>C (p.Val2280=) c.6975T>C (p.Val2325=) c.174T>C | |
| 17 | g.1650835A>T | CA497291455 | PRPF8 | c.6795T>A (p.Val2265=) c.2723T>A c.*6698T>A (n.*6698T>A) n.3289T>A c.6828T>A (p.Val2276=) c.6840T>A (p.Val2280=) c.6975T>A (p.Val2325=) c.174T>A | |
| 17 | g.1650836A= | CA2242977242 | PRPF8 | c.6794T= (p.Val2265=) c.2722T= c.*6697T= (n.*6697T=) n.3288T= c.6827T= (p.Val2276=) c.6839T= (p.Val2280=) c.6974T= (p.Val2325=) c.173T= | |
| 17 | g.1650836A>C | CA397561792 | PRPF8 | c.6794T>G (p.Val2265Gly) c.2722T>G c.*6697T>G (n.*6697T>G) n.3288T>G c.6827T>G (p.Val2276Gly) c.6839T>G (p.Val2280Gly) c.6974T>G (p.Val2325Gly) c.173T>G | |
| 17 | g.1650836A>G | CA397561793 | PRPF8 | c.6794T>C (p.Val2265Ala) c.2722T>C c.*6697T>C (n.*6697T>C) n.3288T>C c.6827T>C (p.Val2276Ala) c.6839T>C (p.Val2280Ala) c.6974T>C (p.Val2325Ala) c.173T>C | |
| 17 | g.1650836A>T | CA397561790 | PRPF8 | c.6794T>A (p.Val2265Asp) c.2722T>A c.*6697T>A (n.*6697T>A) n.3288T>A c.6827T>A (p.Val2276Asp) c.6839T>A (p.Val2280Asp) c.6974T>A (p.Val2325Asp) c.173T>A | |
| 17 | g.1650837C>A | CA397561795 | PRPF8 | c.6793G>T (p.Val2265Phe) c.2721G>T c.*6696G>T (n.*6696G>T) n.3287G>T c.6826G>T (p.Val2276Phe) c.6838G>T (p.Val2280Phe) c.6973G>T (p.Val2325Phe) c.172G>T | |
| 17 | g.1650837C= | CA2242977247 | PRPF8 | c.6793G= (p.Val2265=) c.2721G= c.*6696G= (n.*6696G=) n.3287G= c.6826G= (p.Val2276=) c.6838G= (p.Val2280=) c.6973G= (p.Val2325=) c.172G= | |
| 17 | g.1650837C>G | CA397561797 | PRPF8 | c.6793G>C (p.Val2265Leu) c.2721G>C c.*6696G>C (n.*6696G>C) n.3287G>C c.6826G>C (p.Val2276Leu) c.6838G>C (p.Val2280Leu) c.6973G>C (p.Val2325Leu) c.172G>C | |
| 17 | g.1650837C>T | CA397561800 | PRPF8 | c.6793G>A (p.Val2265Ile) c.2721G>A c.*6696G>A (n.*6696G>A) n.3287G>A c.6826G>A (p.Val2276Ile) c.6838G>A (p.Val2280Ile) c.6973G>A (p.Val2325Ile) c.172G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.1650838dup | CA16621697 | PRPF8 | c.6793dup (p.Val2265GlyfsTer?) c.2721dup c.*6696dup (n.*6696dup) n.3287dup c.6826dup (p.Val2276GlyfsTer?) c.6838dup (p.Val2280GlyfsTer?) c.6973dup (p.Val2325GlyfsTer?) c.172dup | ClinVar dbSNP |
| 17 | g.1650838C>A | CA397561801 | PRPF8 | c.6792G>T (p.Glu2264Asp) c.2720G>T c.*6695G>T (n.*6695G>T) n.3286G>T c.6825G>T (p.Glu2275Asp) c.6837G>T (p.Glu2279Asp) c.6972G>T (p.Glu2324Asp) c.171G>T | |
| 17 | g.1650838C>G | CA397561802 | PRPF8 | c.6792G>C (p.Glu2264Asp) c.2720G>C c.*6695G>C (n.*6695G>C) n.3286G>C c.6825G>C (p.Glu2275Asp) c.6837G>C (p.Glu2279Asp) c.6972G>C (p.Glu2324Asp) c.171G>C | |
| 17 | g.1650838C>T | CA497291461 | PRPF8 | c.6792G>A (p.Glu2264=) c.2720G>A c.*6695G>A (n.*6695G>A) n.3286G>A c.6825G>A (p.Glu2275=) c.6837G>A (p.Glu2279=) c.6972G>A (p.Glu2324=) c.171G>A | |
| 17 | g.1650839T>A | CA397561803 | PRPF8 | c.6791A>T (p.Glu2264Val) c.2719A>T c.*6694A>T (n.*6694A>T) n.3285A>T c.6824A>T (p.Glu2275Val) c.6836A>T (p.Glu2279Val) c.6971A>T (p.Glu2324Val) c.170A>T | |
| 17 | g.1650839T>C | CA397561804 | PRPF8 | c.6791A>G (p.Glu2264Gly) c.2719A>G c.*6694A>G (n.*6694A>G) n.3285A>G c.6824A>G (p.Glu2275Gly) c.6836A>G (p.Glu2279Gly) c.6971A>G (p.Glu2324Gly) c.170A>G | |
| 17 | g.1650839T>G | CA397561806 | PRPF8 | c.6791A>C (p.Glu2264Ala) c.2719A>C c.*6694A>C (n.*6694A>C) n.3285A>C c.6824A>C (p.Glu2275Ala) c.6836A>C (p.Glu2279Ala) c.6971A>C (p.Glu2324Ala) c.170A>C | |
| 17 | g.1650839T= | CA2242977251 | PRPF8 | c.6791A= (p.Glu2264=) c.2719A= c.*6694A= (n.*6694A=) n.3285A= c.6824A= (p.Glu2275=) c.6836A= (p.Glu2279=) c.6971A= (p.Glu2324=) c.170A= | |
| 17 | g.1650840C>A | CA397561809 | PRPF8 | c.6790G>T (p.Glu2264Ter) c.2718G>T c.*6693G>T (n.*6693G>T) n.3284G>T c.6823G>T (p.Glu2275Ter) c.6835G>T (p.Glu2279Ter) c.6970G>T (p.Glu2324Ter) c.169G>T n.959G>T | |
| 17 | g.1650840C>G | CA397561810 | PRPF8 | c.6790G>C (p.Glu2264Gln) c.2718G>C c.*6693G>C (n.*6693G>C) n.3284G>C c.6823G>C (p.Glu2275Gln) c.6835G>C (p.Glu2279Gln) c.6970G>C (p.Glu2324Gln) c.169G>C n.959G>C | |
| 17 | g.1650840C>T | CA397561811 | PRPF8 | c.6790G>A (p.Glu2264Lys) c.2718G>A c.*6693G>A (n.*6693G>A) n.3284G>A c.6823G>A (p.Glu2275Lys) c.6835G>A (p.Glu2279Lys) c.6970G>A (p.Glu2324Lys) c.169G>A n.959G>A | gnomAD v4 |
| 17 | g.1650844dup | CA16621698 | PRPF8 | c.6790dup (p.Glu2264GlyfsTer?) c.2718dup c.*6693dup (n.*6693dup) n.3284dup c.6823dup (p.Glu2275GlyfsTer?) c.6835dup (p.Glu2279GlyfsTer?) c.6970dup (p.Glu2324GlyfsTer?) c.169dup | ClinVar dbSNP |
| 17 | g.1650844del | CA2695224072 | PRPF8 | c.6790del (p.Glu2264ArgfsTer?) c.2718del c.*6693del (n.*6693del) n.3284del c.6823del (p.Glu2275ArgfsTer?) c.6835del (p.Glu2279ArgfsTer?) c.6970del (p.Glu2324ArgfsTer?) c.169del n.959del | |
| 17 | g.1650841C>A | CA497291470 | PRPF8 | c.6789G>T (p.Gly2263=) c.2717G>T c.*6692G>T (n.*6692G>T) n.3283G>T c.6822G>T (p.Gly2274=) c.6834G>T (p.Gly2278=) c.6969G>T (p.Gly2323=) c.168G>T n.958G>T | |
| 17 | g.1650841C= | CA2242977259 | PRPF8 | c.6789G= (p.Gly2263=) c.2717G= c.*6692G= (n.*6692G=) n.3283G= c.6822G= (p.Gly2274=) c.6834G= (p.Gly2278=) c.6969G= (p.Gly2323=) c.168G= n.958G= | |
| 17 | g.1650841C>G | CA497291468 | PRPF8 | c.6789G>C (p.Gly2263=) c.2717G>C c.*6692G>C (n.*6692G>C) n.3283G>C c.6822G>C (p.Gly2274=) c.6834G>C (p.Gly2278=) c.6969G>C (p.Gly2323=) c.168G>C n.958G>C | |
| 17 | g.1650841C>T | CA8271040 | PRPF8 | c.6789G>A (p.Gly2263=) c.2717G>A c.*6692G>A (n.*6692G>A) n.3283G>A c.6822G>A (p.Gly2274=) c.6834G>A (p.Gly2278=) c.6969G>A (p.Gly2323=) c.168G>A n.958G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1650842C>A | CA397561817 | PRPF8 | c.6788G>T (p.Gly2263Val) c.2716G>T c.*6691G>T (n.*6691G>T) n.3282G>T c.6821G>T (p.Gly2274Val) c.6833G>T (p.Gly2278Val) c.6968G>T (p.Gly2323Val) c.167G>T n.957G>T | |
| 17 | g.1650842C>G | CA397561819 | PRPF8 | c.6788G>C (p.Gly2263Ala) c.2716G>C c.*6691G>C (n.*6691G>C) n.3282G>C c.6821G>C (p.Gly2274Ala) c.6833G>C (p.Gly2278Ala) c.6968G>C (p.Gly2323Ala) c.167G>C n.957G>C | |
| 17 | g.1650842C>T | CA397561815 | PRPF8 | c.6788G>A (p.Gly2263Glu) c.2716G>A c.*6691G>A (n.*6691G>A) n.3282G>A c.6821G>A (p.Gly2274Glu) c.6833G>A (p.Gly2278Glu) c.6968G>A (p.Gly2323Glu) c.167G>A n.957G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.1650843C>A | CA397561825 | PRPF8 | c.6787G>T (p.Gly2263Trp) c.2715G>T c.*6690G>T (n.*6690G>T) n.3281G>T c.6820G>T (p.Gly2274Trp) c.6832G>T (p.Gly2278Trp) c.6967G>T (p.Gly2323Trp) c.166G>T n.956G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.1650843C= | CA2242977264 | PRPF8 | c.6787G= (p.Gly2263=) c.2715G= c.*6690G= (n.*6690G=) n.3281G= c.6820G= (p.Gly2274=) c.6832G= (p.Gly2278=) c.6967G= (p.Gly2323=) c.166G= n.956G= | |
| 17 | g.1650843C>G | CA397561827 | PRPF8 | c.6787G>C (p.Gly2263Arg) c.2715G>C c.*6690G>C (n.*6690G>C) n.3281G>C c.6820G>C (p.Gly2274Arg) c.6832G>C (p.Gly2278Arg) c.6967G>C (p.Gly2323Arg) c.166G>C n.956G>C | |
| 17 | g.1650843C>T | CA397561829 | PRPF8 | c.6787G>A (p.Gly2263Arg) c.2715G>A c.*6690G>A (n.*6690G>A) n.3281G>A c.6820G>A (p.Gly2274Arg) c.6832G>A (p.Gly2278Arg) c.6967G>A (p.Gly2323Arg) c.166G>A n.956G>A | ClinVar dbSNP |
| 17 | g.1650844C>A | CA397561830 | PRPF8 | c.6786G>T (p.Glu2262Asp) c.2714G>T c.*6689G>T (n.*6689G>T) n.3280G>T c.6819G>T (p.Glu2273Asp) c.6831G>T (p.Glu2277Asp) c.6966G>T (p.Glu2322Asp) c.165G>T n.955G>T | ClinVar dbSNP |
| 17 | g.1650844C= | CA2242977270 | PRPF8 | c.6786G= (p.Glu2262=) c.2714G= c.*6689G= (n.*6689G=) n.3280G= c.6819G= (p.Glu2273=) c.6831G= (p.Glu2277=) c.6966G= (p.Glu2322=) c.165G= n.955G= | |
| 17 | g.1650844C>G | CA8271041 | PRPF8 | c.6786G>C (p.Glu2262Asp) c.2714G>C c.*6689G>C (n.*6689G>C) n.3280G>C c.6819G>C (p.Glu2273Asp) c.6831G>C (p.Glu2277Asp) c.6966G>C (p.Glu2322Asp) c.165G>C n.955G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1650844C>T | CA497291477 | PRPF8 | c.6786G>A (p.Glu2262=) c.2714G>A c.*6689G>A (n.*6689G>A) n.3280G>A c.6819G>A (p.Glu2273=) c.6831G>A (p.Glu2277=) c.6966G>A (p.Glu2322=) c.165G>A n.955G>A | |
| 17 | g.1650845T>A | CA397561836 | PRPF8 | c.6785A>T (p.Glu2262Val) c.2713A>T c.*6688A>T (n.*6688A>T) n.3279A>T c.6818A>T (p.Glu2273Val) c.6830A>T (p.Glu2277Val) c.6965A>T (p.Glu2322Val) c.164A>T n.954A>T | |
| 17 | g.1650845T>C | CA397561833 | PRPF8 | c.6785A>G (p.Glu2262Gly) c.2713A>G c.*6688A>G (n.*6688A>G) n.3279A>G c.6818A>G (p.Glu2273Gly) c.6830A>G (p.Glu2277Gly) c.6965A>G (p.Glu2322Gly) c.164A>G n.954A>G | |
| 17 | g.1650845T>G | CA397561834 | PRPF8 | c.6785A>C (p.Glu2262Ala) c.2713A>C c.*6688A>C (n.*6688A>C) n.3279A>C c.6818A>C (p.Glu2273Ala) c.6830A>C (p.Glu2277Ala) c.6965A>C (p.Glu2322Ala) c.164A>C n.954A>C | |
| 17 | g.1650846C>A | CA397561839 | PRPF8 | c.6784G>T (p.Glu2262Ter) c.2712G>T c.*6687G>T (n.*6687G>T) n.3278G>T c.6817G>T (p.Glu2273Ter) c.6829G>T (p.Glu2277Ter) c.6964G>T (p.Glu2322Ter) c.163G>T n.953G>T | |
| 17 | g.1650846C>G | CA397561841 | PRPF8 | c.6784G>C (p.Glu2262Gln) c.2712G>C c.*6687G>C (n.*6687G>C) n.3278G>C c.6817G>C (p.Glu2273Gln) c.6829G>C (p.Glu2277Gln) c.6964G>C (p.Glu2322Gln) c.163G>C n.953G>C | |
| 17 | g.1650846C>T | CA397561842 | PRPF8 | c.6784G>A (p.Glu2262Lys) c.2712G>A c.*6687G>A (n.*6687G>A) n.3278G>A c.6817G>A (p.Glu2273Lys) c.6829G>A (p.Glu2277Lys) c.6964G>A (p.Glu2322Lys) c.163G>A n.953G>A | |
| 17 | g.1650847C>A | CA397561844 | PRPF8 | c.6783G>T (p.Gln2261His) c.2711G>T c.*6686G>T (n.*6686G>T) n.3277G>T c.6816G>T (p.Gln2272His) c.6828G>T (p.Gln2276His) c.6963G>T (p.Gln2321His) c.163-1G>T n.952G>T | gnomAD v4 |
| 17 | g.1650847C>G | CA397561846 | PRPF8 | c.6783G>C (p.Gln2261His) c.2711G>C c.*6686G>C (n.*6686G>C) n.3277G>C c.6816G>C (p.Gln2272His) c.6828G>C (p.Gln2276His) c.6963G>C (p.Gln2321His) c.163-1G>C n.952G>C | |
| 17 | g.1650847C>T | CA497291485 | PRPF8 | c.6783G>A (p.Gln2261=) c.2711G>A c.*6686G>A (n.*6686G>A) n.3277G>A c.6816G>A (p.Gln2272=) c.6828G>A (p.Gln2276=) c.6963G>A (p.Gln2321=) c.163-1G>A n.952G>A | |
| 17 | g.1650848T>A | CA8271042 | PRPF8 | c.6782A>T (p.Gln2261Leu) c.2710A>T c.*6685A>T (n.*6685A>T) n.3276A>T c.6815A>T (p.Gln2272Leu) c.6827A>T (p.Gln2276Leu) c.6962A>T (p.Gln2321Leu) c.163-2A>T n.951A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1650848T>C | CA397561851 | PRPF8 | c.6782A>G (p.Gln2261Arg) c.2710A>G c.*6685A>G (n.*6685A>G) n.3276A>G c.6815A>G (p.Gln2272Arg) c.6827A>G (p.Gln2276Arg) c.6962A>G (p.Gln2321Arg) c.163-2A>G n.951A>G | |
| 17 | g.1650848T>G | CA397561849 | PRPF8 | c.6782A>C (p.Gln2261Pro) c.2710A>C c.*6685A>C (n.*6685A>C) n.3276A>C c.6815A>C (p.Gln2272Pro) c.6827A>C (p.Gln2276Pro) c.6962A>C (p.Gln2321Pro) c.163-2A>C n.951A>C | |
| 17 | g.1650848T= | CA2242977276 | PRPF8 | c.6782A= (p.Gln2261=) c.2710A= c.*6685A= (n.*6685A=) n.3276A= c.6815A= (p.Gln2272=) c.6827A= (p.Gln2276=) c.6962A= (p.Gln2321=) c.163-2A= n.951A= | |
| 17 | g.1650849G>A | CA397561852 | PRPF8 | c.6781C>T (p.Gln2261Ter) c.2709C>T c.*6684C>T (n.*6684C>T) n.3275C>T c.6814C>T (p.Gln2272Ter) c.6826C>T (p.Gln2276Ter) c.6961C>T (p.Gln2321Ter) c.163-3C>T n.950C>T | ClinVar |
| 17 | g.1650849G>C | CA397561853 | PRPF8 | c.6781C>G (p.Gln2261Glu) c.2709C>G c.*6684C>G (n.*6684C>G) n.3275C>G c.6814C>G (p.Gln2272Glu) c.6826C>G (p.Gln2276Glu) c.6961C>G (p.Gln2321Glu) c.163-3C>G n.950C>G | gnomAD v4 |
| 17 | g.1650849G>T | CA397561855 | PRPF8 | c.6781C>A (p.Gln2261Lys) c.2709C>A c.*6684C>A (n.*6684C>A) n.3275C>A c.6814C>A (p.Gln2272Lys) c.6826C>A (p.Gln2276Lys) c.6961C>A (p.Gln2321Lys) c.163-3C>A n.950C>A | |
| 17 | g.1650850C>A | CA497291492 | PRPF8 | c.6780G>T (p.Leu2260=) c.2708G>T c.*6683G>T (n.*6683G>T) n.3274G>T c.6813G>T (p.Leu2271=) c.6825G>T (p.Leu2275=) c.6960G>T (p.Leu2320=) c.163-4G>T n.949G>T | |
| 17 | g.1650850C>G | CA497291494 | PRPF8 | c.6780G>C (p.Leu2260=) c.2708G>C c.*6683G>C (n.*6683G>C) n.3274G>C c.6813G>C (p.Leu2271=) c.6825G>C (p.Leu2275=) c.6960G>C (p.Leu2320=) c.163-4G>C n.949G>C | |
| 17 | g.1650850C>T | CA497291495 | PRPF8 | c.6780G>A (p.Leu2260=) c.2708G>A c.*6683G>A (n.*6683G>A) n.3274G>A c.6813G>A (p.Leu2271=) c.6825G>A (p.Leu2275=) c.6960G>A (p.Leu2320=) c.163-4G>A n.949G>A | |
| 17 | g.1650851A= | CA2242977280 | PRPF8 | c.6779T= (p.Leu2260=) c.2707T= c.*6682T= (n.*6682T=) n.3273T= c.6812T= (p.Leu2271=) c.6824T= (p.Leu2275=) c.6959T= (p.Leu2320=) c.163-5T= n.948T= | |
| 17 | g.1650851A>C | CA286849507 | PRPF8 | c.6779T>G (p.Leu2260Arg) c.2707T>G c.*6682T>G (n.*6682T>G) n.3273T>G c.6812T>G (p.Leu2271Arg) c.6824T>G (p.Leu2275Arg) c.6959T>G (p.Leu2320Arg) c.163-5T>G n.948T>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.1650851A>G | CA397561864 | PRPF8 | c.6779T>C (p.Leu2260Pro) c.2707T>C c.*6682T>C (n.*6682T>C) n.3273T>C c.6812T>C (p.Leu2271Pro) c.6824T>C (p.Leu2275Pro) c.6959T>C (p.Leu2320Pro) c.163-5T>C n.948T>C | |
| 17 | g.1650851A>T | CA397561870 | PRPF8 | c.6779T>A (p.Leu2260Gln) c.2707T>A c.*6682T>A (n.*6682T>A) n.3273T>A c.6812T>A (p.Leu2271Gln) c.6824T>A (p.Leu2275Gln) c.6959T>A (p.Leu2320Gln) c.163-5T>A n.948T>A | |
| 17 | g.1650852G>A | CA497291501 | PRPF8 | c.6778C>T (p.Leu2260=) c.2706C>T c.*6681C>T (n.*6681C>T) n.3272C>T c.6811C>T (p.Leu2271=) c.6823C>T (p.Leu2275=) c.6958C>T (p.Leu2320=) c.163-6C>T n.947C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.1650852G>C | CA397561875 | PRPF8 | c.6778C>G (p.Leu2260Val) c.2706C>G c.*6681C>G (n.*6681C>G) n.3272C>G c.6811C>G (p.Leu2271Val) c.6823C>G (p.Leu2275Val) c.6958C>G (p.Leu2320Val) c.163-6C>G n.947C>G | |
| 17 | g.1650852G= | CA2242977282 | PRPF8 | c.6778C= (p.Leu2260=) c.2706C= c.*6681C= (n.*6681C=) n.3272C= c.6811C= (p.Leu2271=) c.6823C= (p.Leu2275=) c.6958C= (p.Leu2320=) c.163-6C= n.947C= | |
| 17 | g.1650852G>T | CA397561872 | PRPF8 | c.6778C>A (p.Leu2260Met) c.2706C>A c.*6681C>A (n.*6681C>A) n.3272C>A c.6811C>A (p.Leu2271Met) c.6823C>A (p.Leu2275Met) c.6958C>A (p.Leu2320Met) c.163-6C>A n.947C>A | |
| 17 | g.1650853G>A | CA497291502 | PRPF8 | c.6777C>T (p.Leu2259=) c.2705C>T c.*6680C>T (n.*6680C>T) n.3271C>T c.6810C>T (p.Leu2270=) c.6822C>T (p.Leu2274=) c.6957C>T (p.Leu2319=) c.163-7C>T n.946C>T | |
| 17 | g.1650853G>C | CA497291503 | PRPF8 | c.6777C>G (p.Leu2259=) c.2705C>G c.*6680C>G (n.*6680C>G) n.3271C>G c.6810C>G (p.Leu2270=) c.6822C>G (p.Leu2274=) c.6957C>G (p.Leu2319=) c.163-7C>G n.946C>G | ClinVar dbSNP |
| 17 | g.1650853G= | CA2242977284 | PRPF8 | c.6777C= (p.Leu2259=) c.2705C= c.*6680C= (n.*6680C=) n.3271C= c.6810C= (p.Leu2270=) c.6822C= (p.Leu2274=) c.6957C= (p.Leu2319=) c.163-7C= n.946C= | |
| 17 | g.1650853G>T | CA497291505 | PRPF8 | c.6777C>A (p.Leu2259=) c.2705C>A c.*6680C>A (n.*6680C>A) n.3271C>A c.6810C>A (p.Leu2270=) c.6822C>A (p.Leu2274=) c.6957C>A (p.Leu2319=) c.163-7C>A n.946C>A | |
| 17 | g.1650856_1650857dup | CA2697556105 | PRPF8 | c.6776_6777dup (p.Leu2260SerfsTer?) c.2704_2705dup c.*6679_*6680dup (n.*6679_*6680dup) n.3270_3271dup c.6809_6810dup (p.Leu2271SerfsTer?) c.6821_6822dup (p.Leu2275SerfsTer?) c.6956_6957dup (p.Leu2320SerfsTer?) c.163-8_163-7dup n.945_946dup | ClinVar |
| 17 | g.1650854A>C | CA397561877 | PRPF8 | c.6776T>G (p.Leu2259Arg) c.2704T>G c.*6679T>G (n.*6679T>G) n.3270T>G c.6809T>G (p.Leu2270Arg) c.6821T>G (p.Leu2274Arg) c.6956T>G (p.Leu2319Arg) c.163-8T>G n.945T>G | |
| 17 | g.1650854A>G | CA397561878 | PRPF8 | c.6776T>C (p.Leu2259Pro) c.2704T>C c.*6679T>C (n.*6679T>C) n.3270T>C c.6809T>C (p.Leu2270Pro) c.6821T>C (p.Leu2274Pro) c.6956T>C (p.Leu2319Pro) c.163-8T>C n.945T>C | |
| 17 | g.1650854A>T | CA397561880 | PRPF8 | c.6776T>A (p.Leu2259His) c.2704T>A c.*6679T>A (n.*6679T>A) n.3270T>A c.6809T>A (p.Leu2270His) c.6821T>A (p.Leu2274His) c.6956T>A (p.Leu2319His) c.163-8T>A n.945T>A | |
| 17 | g.1650855G>A | CA286849510 | PRPF8 | c.6775C>T (p.Leu2259Phe) c.2703C>T c.*6678C>T (n.*6678C>T) n.3269C>T c.6808C>T (p.Leu2270Phe) c.6820C>T (p.Leu2274Phe) c.6955C>T (p.Leu2319Phe) c.163-9C>T n.944C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650855G>C | CA397561887 | PRPF8 | c.6775C>G (p.Leu2259Val) c.2703C>G c.*6678C>G (n.*6678C>G) n.3269C>G c.6808C>G (p.Leu2270Val) c.6820C>G (p.Leu2274Val) c.6955C>G (p.Leu2319Val) c.163-9C>G n.944C>G | |
| 17 | g.1650855G= | CA2242977285 | PRPF8 | c.6775C= (p.Leu2259=) c.2703C= c.*6678C= (n.*6678C=) n.3269C= c.6808C= (p.Leu2270=) c.6820C= (p.Leu2274=) c.6955C= (p.Leu2319=) c.163-9C= n.944C= | |
| 17 | g.1650855G>T | CA397561890 | PRPF8 | c.6775C>A (p.Leu2259Ile) c.2703C>A c.*6678C>A (n.*6678C>A) n.3269C>A c.6808C>A (p.Leu2270Ile) c.6820C>A (p.Leu2274Ile) c.6955C>A (p.Leu2319Ile) c.163-9C>A n.944C>A |