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.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.1650856A= | CA2242977287 | PRPF8 | c.6774T= (p.Ala2258=) c.2702T= c.*6677T= (n.*6677T=) n.3268T= c.6807T= (p.Ala2269=) c.6819T= (p.Ala2273=) c.6954T= (p.Ala2318=) c.163-10T= n.943T= | |
| 17 | g.1650856A>C | CA497291513 | PRPF8 | c.6774T>G (p.Ala2258=) c.2702T>G c.*6677T>G (n.*6677T>G) n.3268T>G c.6807T>G (p.Ala2269=) c.6819T>G (p.Ala2273=) c.6954T>G (p.Ala2318=) c.163-10T>G n.943T>G | |
| 17 | g.1650856A>G | CA497291515 | PRPF8 | c.6774T>C (p.Ala2258=) c.2702T>C c.*6677T>C (n.*6677T>C) n.3268T>C c.6807T>C (p.Ala2269=) c.6819T>C (p.Ala2273=) c.6954T>C (p.Ala2318=) c.163-10T>C n.943T>C | dbSNP gnomAD v4 |
| 17 | g.1650856A>T | CA497291519 | PRPF8 | c.6774T>A (p.Ala2258=) c.2702T>A c.*6677T>A (n.*6677T>A) n.3268T>A c.6807T>A (p.Ala2269=) c.6819T>A (p.Ala2273=) c.6954T>A (p.Ala2318=) c.163-10T>A n.943T>A | |
| 17 | g.1650857G>A | CA397561894 | PRPF8 | c.6773C>T (p.Ala2258Val) c.2701C>T c.*6676C>T (n.*6676C>T) n.3267C>T c.6806C>T (p.Ala2269Val) c.6818C>T (p.Ala2273Val) c.6953C>T (p.Ala2318Val) c.163-11C>T n.942C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.1650857G>C | CA8271043 | PRPF8 | c.6773C>G (p.Ala2258Gly) c.2701C>G c.*6676C>G (n.*6676C>G) n.3267C>G c.6806C>G (p.Ala2269Gly) c.6818C>G (p.Ala2273Gly) c.6953C>G (p.Ala2318Gly) c.163-11C>G n.942C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1650857G= | CA2242977291 | PRPF8 | c.6773C= (p.Ala2258=) c.2701C= c.*6676C= (n.*6676C=) n.3267C= c.6806C= (p.Ala2269=) c.6818C= (p.Ala2273=) c.6953C= (p.Ala2318=) c.163-11C= n.942C= | |
| 17 | g.1650857G>T | CA397561891 | PRPF8 | c.6773C>A (p.Ala2258Asp) c.2701C>A c.*6676C>A (n.*6676C>A) n.3267C>A c.6806C>A (p.Ala2269Asp) c.6818C>A (p.Ala2273Asp) c.6953C>A (p.Ala2318Asp) c.163-11C>A n.942C>A | |
| 17 | g.1650858C>A | CA397561898 | PRPF8 | c.6772G>T (p.Ala2258Ser) c.2700G>T c.*6675G>T (n.*6675G>T) n.3266G>T c.6805G>T (p.Ala2269Ser) c.6817G>T (p.Ala2273Ser) c.6952G>T (p.Ala2318Ser) c.163-12G>T n.941G>T | |
| 17 | g.1650858C>G | CA397561899 | PRPF8 | c.6772G>C (p.Ala2258Pro) c.2700G>C c.*6675G>C (n.*6675G>C) n.3266G>C c.6805G>C (p.Ala2269Pro) c.6817G>C (p.Ala2273Pro) c.6952G>C (p.Ala2318Pro) c.163-12G>C n.941G>C | |
| 17 | g.1650858C>T | CA397561900 | PRPF8 | c.6772G>A (p.Ala2258Thr) c.2700G>A c.*6675G>A (n.*6675G>A) n.3266G>A c.6805G>A (p.Ala2269Thr) c.6817G>A (p.Ala2273Thr) c.6952G>A (p.Ala2318Thr) c.163-12G>A n.941G>A | |
| 17 | g.1650859A>C | CA397561902 | PRPF8 | c.6771T>G (p.Phe2257Leu) c.2699T>G c.*6674T>G (n.*6674T>G) n.3265T>G c.6804T>G (p.Phe2268Leu) c.6816T>G (p.Phe2272Leu) c.6951T>G (p.Phe2317Leu) c.163-13T>G n.940T>G | |
| 17 | g.1650859A>G | CA497291525 | PRPF8 | c.6771T>C (p.Phe2257=) c.2699T>C c.*6674T>C (n.*6674T>C) n.3265T>C c.6804T>C (p.Phe2268=) c.6816T>C (p.Phe2272=) c.6951T>C (p.Phe2317=) c.163-13T>C n.940T>C | gnomAD v4 |
| 17 | g.1650859A>T | CA397561903 | PRPF8 | c.6771T>A (p.Phe2257Leu) c.2699T>A c.*6674T>A (n.*6674T>A) n.3265T>A c.6804T>A (p.Phe2268Leu) c.6816T>A (p.Phe2272Leu) c.6951T>A (p.Phe2317Leu) c.163-13T>A n.940T>A | gnomAD v4 |
| 17 | g.1650860_1650861del | CA2695224073 | PRPF8 | c.6770_6771del (p.Phe2257CysfsTer?) c.2698_2699del c.*6673_*6674del (n.*6673_*6674del) n.3264_3265del c.6803_6804del (p.Phe2268CysfsTer?) c.6815_6816del (p.Phe2272CysfsTer?) c.6950_6951del (p.Phe2317CysfsTer?) c.163-14_163-13del n.939_940del | |
| 17 | g.1650860A>C | CA397561906 | PRPF8 | c.6770T>G (p.Phe2257Cys) c.2698T>G c.*6673T>G (n.*6673T>G) n.3264T>G c.6803T>G (p.Phe2268Cys) c.6815T>G (p.Phe2272Cys) c.6950T>G (p.Phe2317Cys) c.163-14T>G n.939T>G | |
| 17 | g.1650860A>G | CA397561908 | PRPF8 | c.6770T>C (p.Phe2257Ser) c.2698T>C c.*6673T>C (n.*6673T>C) n.3264T>C c.6803T>C (p.Phe2268Ser) c.6815T>C (p.Phe2272Ser) c.6950T>C (p.Phe2317Ser) c.163-14T>C n.939T>C | |
| 17 | g.1650860A>T | CA397561910 | PRPF8 | c.6770T>A (p.Phe2257Tyr) c.2698T>A c.*6673T>A (n.*6673T>A) n.3264T>A c.6803T>A (p.Phe2268Tyr) c.6815T>A (p.Phe2272Tyr) c.6950T>A (p.Phe2317Tyr) c.163-14T>A n.939T>A | |
| 17 | g.1650861A= | CA2242977296 | PRPF8 | c.6769T= (p.Phe2257=) c.2697T= c.*6672T= (n.*6672T=) n.3263T= c.6802T= (p.Phe2268=) c.6814T= (p.Phe2272=) c.6949T= (p.Phe2317=) c.163-15T= n.938T= | |
| 17 | g.1650861A>C | CA397561914 | PRPF8 | c.6769T>G (p.Phe2257Val) c.2697T>G c.*6672T>G (n.*6672T>G) n.3263T>G c.6802T>G (p.Phe2268Val) c.6814T>G (p.Phe2272Val) c.6949T>G (p.Phe2317Val) c.163-15T>G n.938T>G | |
| 17 | g.1650861A>G | CA397561915 | PRPF8 | c.6769T>C (p.Phe2257Leu) c.2697T>C c.*6672T>C (n.*6672T>C) n.3263T>C c.6802T>C (p.Phe2268Leu) c.6814T>C (p.Phe2272Leu) c.6949T>C (p.Phe2317Leu) c.163-15T>C n.938T>C | gnomAD v4 |
| 17 | g.1650861A>T | CA286849526 | PRPF8 | c.6769T>A (p.Phe2257Ile) c.2697T>A c.*6672T>A (n.*6672T>A) n.3263T>A c.6802T>A (p.Phe2268Ile) c.6814T>A (p.Phe2272Ile) c.6949T>A (p.Phe2317Ile) c.163-15T>A n.938T>A | ClinVar dbSNP |
| 17 | g.1650862G>A | CA497291535 | PRPF8 | c.6768C>T (p.Asn2256=) c.2696C>T c.*6671C>T (n.*6671C>T) n.3262C>T c.6801C>T (p.Asn2267=) c.6813C>T (p.Asn2271=) c.6948C>T (p.Asn2316=) c.163-16C>T n.937C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.1650862G>C | CA397561919 | PRPF8 | c.6768C>G (p.Asn2256Lys) c.2696C>G c.*6671C>G (n.*6671C>G) n.3262C>G c.6801C>G (p.Asn2267Lys) c.6813C>G (p.Asn2271Lys) c.6948C>G (p.Asn2316Lys) c.163-16C>G n.937C>G | |
| 17 | g.1650862G>T | CA397561921 | PRPF8 | c.6768C>A (p.Asn2256Lys) c.2696C>A c.*6671C>A (n.*6671C>A) n.3262C>A c.6801C>A (p.Asn2267Lys) c.6813C>A (p.Asn2271Lys) c.6948C>A (p.Asn2316Lys) c.163-16C>A n.937C>A | |
| 17 | g.1650863T>A | CA397561923 | PRPF8 | c.6767A>T (p.Asn2256Ile) c.2695A>T c.*6670A>T (n.*6670A>T) n.3261A>T c.6800A>T (p.Asn2267Ile) c.6812A>T (p.Asn2271Ile) c.6947A>T (p.Asn2316Ile) c.163-17A>T n.936A>T | gnomAD v4 |
| 17 | g.1650863T>C | CA397561927 | PRPF8 | c.6767A>G (p.Asn2256Ser) c.2695A>G c.*6670A>G (n.*6670A>G) n.3261A>G c.6800A>G (p.Asn2267Ser) c.6812A>G (p.Asn2271Ser) c.6947A>G (p.Asn2316Ser) c.163-17A>G n.936A>G | gnomAD v4 |
| 17 | g.1650863T>G | CA397561926 | PRPF8 | c.6767A>C (p.Asn2256Thr) c.2695A>C c.*6670A>C (n.*6670A>C) n.3261A>C c.6800A>C (p.Asn2267Thr) c.6812A>C (p.Asn2271Thr) c.6947A>C (p.Asn2316Thr) c.163-17A>C n.936A>C | gnomAD v4 |
| 17 | g.1650863_1650864dup | CA2739267036 | PRPF8 | c.6766_6767dup (p.Asn2256LysfsTer?) c.2694_2695dup c.*6669_*6670dup (n.*6669_*6670dup) n.3260_3261dup c.6799_6800dup (p.Asn2267LysfsTer?) c.6811_6812dup (p.Asn2271LysfsTer?) c.6946_6947dup (p.Asn2316LysfsTer?) c.163-18_163-17dup n.935_936dup | ClinVar |
| 17 | g.1650864T>A | CA397561929 | PRPF8 | c.6766A>T (p.Asn2256Tyr) c.2694A>T c.*6669A>T (n.*6669A>T) n.3260A>T c.6799A>T (p.Asn2267Tyr) c.6811A>T (p.Asn2271Tyr) c.6946A>T (p.Asn2316Tyr) c.163-18A>T n.935A>T | |
| 17 | g.1650864T>C | CA397561932 | PRPF8 | c.6766A>G (p.Asn2256Asp) c.2694A>G c.*6669A>G (n.*6669A>G) n.3260A>G c.6799A>G (p.Asn2267Asp) c.6811A>G (p.Asn2271Asp) c.6946A>G (p.Asn2316Asp) c.163-18A>G n.935A>G | |
| 17 | g.1650864T>G | CA397561934 | PRPF8 | c.6766A>C (p.Asn2256His) c.2694A>C c.*6669A>C (n.*6669A>C) n.3260A>C c.6799A>C (p.Asn2267His) c.6811A>C (p.Asn2271His) c.6946A>C (p.Asn2316His) c.163-18A>C n.935A>C | dbSNP gnomAD v4 |
| 17 | g.1650864T= | CA2242977300 | PRPF8 | c.6766A= (p.Asn2256=) c.2694A= c.*6669A= (n.*6669A=) n.3260A= c.6799A= (p.Asn2267=) c.6811A= (p.Asn2271=) c.6946A= (p.Asn2316=) c.163-18A= n.935A= | |
| 17 | g.1650865G>A | CA497291550 | PRPF8 | c.6765C>T (p.Leu2255=) c.2693C>T c.*6668C>T (n.*6668C>T) n.3259C>T c.6798C>T (p.Leu2266=) c.6810C>T (p.Leu2270=) c.6945C>T (p.Leu2315=) c.163-19C>T n.934C>T | |
| 17 | g.1650865G>C | CA8271044 | PRPF8 | c.6765C>G (p.Leu2255=) c.2693C>G c.*6668C>G (n.*6668C>G) n.3259C>G c.6798C>G (p.Leu2266=) c.6810C>G (p.Leu2270=) c.6945C>G (p.Leu2315=) c.163-19C>G n.934C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650865G= | CA2242977303 | PRPF8 | c.6765C= (p.Leu2255=) c.2693C= c.*6668C= (n.*6668C=) n.3259C= c.6798C= (p.Leu2266=) c.6810C= (p.Leu2270=) c.6945C= (p.Leu2315=) c.163-19C= n.934C= | |
| 17 | g.1650865G>T | CA497291553 | PRPF8 | c.6765C>A (p.Leu2255=) c.2693C>A c.*6668C>A (n.*6668C>A) n.3259C>A c.6798C>A (p.Leu2266=) c.6810C>A (p.Leu2270=) c.6945C>A (p.Leu2315=) c.163-19C>A n.934C>A | |
| 17 | g.1650866A>C | CA397561935 | PRPF8 | c.6764T>G (p.Leu2255Arg) c.2692T>G c.*6667T>G (n.*6667T>G) n.3258T>G c.6797T>G (p.Leu2266Arg) c.6809T>G (p.Leu2270Arg) c.6944T>G (p.Leu2315Arg) c.163-20T>G n.933T>G | |
| 17 | g.1650866A>G | CA397561936 | PRPF8 | c.6764T>C (p.Leu2255Pro) c.2692T>C c.*6667T>C (n.*6667T>C) n.3258T>C c.6797T>C (p.Leu2266Pro) c.6809T>C (p.Leu2270Pro) c.6944T>C (p.Leu2315Pro) c.163-20T>C n.933T>C | |
| 17 | g.1650866A>T | CA397561937 | PRPF8 | c.6764T>A (p.Leu2255His) c.2692T>A c.*6667T>A (n.*6667T>A) n.3258T>A c.6797T>A (p.Leu2266His) c.6809T>A (p.Leu2270His) c.6944T>A (p.Leu2315His) c.163-20T>A n.933T>A | |
| 17 | g.1650867G>A | CA397561938 | PRPF8 | c.6763C>T (p.Leu2255Phe) c.2691C>T c.*6666C>T (n.*6666C>T) n.3257C>T c.6796C>T (p.Leu2266Phe) c.6808C>T (p.Leu2270Phe) c.6943C>T (p.Leu2315Phe) c.163-21C>T n.932C>T | |
| 17 | g.1650867G>C | CA397561939 | PRPF8 | c.6763C>G (p.Leu2255Val) c.2691C>G c.*6666C>G (n.*6666C>G) n.3257C>G c.6796C>G (p.Leu2266Val) c.6808C>G (p.Leu2270Val) c.6943C>G (p.Leu2315Val) c.163-21C>G n.932C>G | |
| 17 | g.1650867G>T | CA397561941 | PRPF8 | c.6763C>A (p.Leu2255Ile) c.2691C>A c.*6666C>A (n.*6666C>A) n.3257C>A c.6796C>A (p.Leu2266Ile) c.6808C>A (p.Leu2270Ile) c.6943C>A (p.Leu2315Ile) c.163-21C>A n.932C>A | |
| 17 | g.1650868del | CA2695224074 | PRPF8 | c.6763del (p.Leu2255SerfsTer?) c.2691del c.*6666del (n.*6666del) n.3257del c.6796del (p.Leu2266SerfsTer?) c.6808del (p.Leu2270SerfsTer?) c.6943del (p.Leu2315SerfsTer?) c.163-21del n.932del | |
| 17 | g.1650868G>A | CA497291561 | PRPF8 | c.6762C>T (p.Phe2254=) c.2690C>T c.*6665C>T (n.*6665C>T) n.3256C>T c.6795C>T (p.Phe2265=) c.6807C>T (p.Phe2269=) c.6942C>T (p.Phe2314=) c.163-22C>T n.931C>T | dbSNP |
| 17 | g.1650868G>C | CA397561942 | PRPF8 | c.6762C>G (p.Phe2254Leu) c.2690C>G c.*6665C>G (n.*6665C>G) n.3256C>G c.6795C>G (p.Phe2265Leu) c.6807C>G (p.Phe2269Leu) c.6942C>G (p.Phe2314Leu) c.163-22C>G n.931C>G | ClinVar dbSNP |
| 17 | g.1650868G= | CA2242977306 | PRPF8 | c.6762C= (p.Phe2254=) c.2690C= c.*6665C= (n.*6665C=) n.3256C= c.6795C= (p.Phe2265=) c.6807C= (p.Phe2269=) c.6942C= (p.Phe2314=) c.163-22C= n.931C= | |
| 17 | g.1650868G>T | CA397561943 | PRPF8 | c.6762C>A (p.Phe2254Leu) c.2690C>A c.*6665C>A (n.*6665C>A) n.3256C>A c.6795C>A (p.Phe2265Leu) c.6807C>A (p.Phe2269Leu) c.6942C>A (p.Phe2314Leu) c.163-22C>A n.931C>A | ClinVar |
| 17 | g.1650869A= | CA2242977308 | PRPF8 | c.6761T= (p.Phe2254=) c.2689T= c.*6664T= (n.*6664T=) n.3255T= c.6794T= (p.Phe2265=) c.6806T= (p.Phe2269=) c.6941T= (p.Phe2314=) c.163-23T= n.930T= | |
| 17 | g.1650869A>C | CA397561949 | PRPF8 | c.6761T>G (p.Phe2254Cys) c.2689T>G c.*6664T>G (n.*6664T>G) n.3255T>G c.6794T>G (p.Phe2265Cys) c.6806T>G (p.Phe2269Cys) c.6941T>G (p.Phe2314Cys) c.163-23T>G n.930T>G | |
| 17 | g.1650869A>G | CA397561946 | PRPF8 | c.6761T>C (p.Phe2254Ser) c.2689T>C c.*6664T>C (n.*6664T>C) n.3255T>C c.6794T>C (p.Phe2265Ser) c.6806T>C (p.Phe2269Ser) c.6941T>C (p.Phe2314Ser) c.163-23T>C n.930T>C | ClinVar dbSNP |
| 17 | g.1650869A>T | CA397561947 | PRPF8 | c.6761T>A (p.Phe2254Tyr) c.2689T>A c.*6664T>A (n.*6664T>A) n.3255T>A c.6794T>A (p.Phe2265Tyr) c.6806T>A (p.Phe2269Tyr) c.6941T>A (p.Phe2314Tyr) c.163-23T>A n.930T>A | |
| 17 | g.1650870A>C | CA397561952 | PRPF8 | c.6760T>G (p.Phe2254Val) c.2688T>G c.*6663T>G (n.*6663T>G) n.3254T>G c.6793T>G (p.Phe2265Val) c.6805T>G (p.Phe2269Val) c.6940T>G (p.Phe2314Val) c.163-24T>G n.929T>G | |
| 17 | g.1650870A>G | CA397561954 | PRPF8 | c.6760T>C (p.Phe2254Leu) c.2688T>C c.*6663T>C (n.*6663T>C) n.3254T>C c.6793T>C (p.Phe2265Leu) c.6805T>C (p.Phe2269Leu) c.6940T>C (p.Phe2314Leu) c.163-24T>C n.929T>C | |
| 17 | g.1650870A>T | CA397561956 | PRPF8 | c.6760T>A (p.Phe2254Ile) c.2688T>A c.*6663T>A (n.*6663T>A) n.3254T>A c.6793T>A (p.Phe2265Ile) c.6805T>A (p.Phe2269Ile) c.6940T>A (p.Phe2314Ile) c.163-24T>A n.929T>A | |
| 17 | g.1650871G>A | CA497291571 | PRPF8 | c.6759C>T (p.His2253=) c.2687C>T c.*6662C>T (n.*6662C>T) n.3253C>T c.6792C>T (p.His2264=) c.6804C>T (p.His2268=) c.6939C>T (p.His2313=) c.163-25C>T n.928C>T | ClinVar |
| 17 | g.1650871G>C | CA397561959 | PRPF8 | c.6759C>G (p.His2253Gln) c.2687C>G c.*6662C>G (n.*6662C>G) n.3253C>G c.6792C>G (p.His2264Gln) c.6804C>G (p.His2268Gln) c.6939C>G (p.His2313Gln) c.163-25C>G n.928C>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.1650871G= | CA2242977311 | PRPF8 | c.6759C= (p.His2253=) c.2687C= c.*6662C= (n.*6662C=) n.3253C= c.6792C= (p.His2264=) c.6804C= (p.His2268=) c.6939C= (p.His2313=) c.163-25C= n.928C= | |
| 17 | g.1650871G>T | CA397561961 | PRPF8 | c.6759C>A (p.His2253Gln) c.2687C>A c.*6662C>A (n.*6662C>A) n.3253C>A c.6792C>A (p.His2264Gln) c.6804C>A (p.His2268Gln) c.6939C>A (p.His2313Gln) c.163-25C>A n.928C>A | |
| 17 | g.1650872T>A | CA397561964 | PRPF8 | c.6758A>T (p.His2253Leu) c.2686A>T c.*6661A>T (n.*6661A>T) n.3252A>T c.6791A>T (p.His2264Leu) c.6803A>T (p.His2268Leu) c.6938A>T (p.His2313Leu) c.163-26A>T n.927A>T | |
| 17 | g.1650872T>C | CA397561966 | PRPF8 | c.6758A>G (p.His2253Arg) c.2686A>G c.*6661A>G (n.*6661A>G) n.3252A>G c.6791A>G (p.His2264Arg) c.6803A>G (p.His2268Arg) c.6938A>G (p.His2313Arg) c.163-26A>G n.927A>G | ClinVar dbSNP |
| 17 | g.1650872T>G | CA397561969 | PRPF8 | c.6758A>C (p.His2253Pro) c.2686A>C c.*6661A>C (n.*6661A>C) n.3252A>C c.6791A>C (p.His2264Pro) c.6803A>C (p.His2268Pro) c.6938A>C (p.His2313Pro) c.163-26A>C n.927A>C | |
| 17 | g.1650872T= | CA2242977314 | PRPF8 | c.6758A= (p.His2253=) c.2686A= c.*6661A= (n.*6661A=) n.3252A= c.6791A= (p.His2264=) c.6803A= (p.His2268=) c.6938A= (p.His2313=) c.163-26A= n.927A= | |
| 17 | g.1650872dup | CA2635248570 | PRPF8 | c.6758dup (p.His2253GlnfsTer?) c.2686dup c.*6661dup (n.*6661dup) n.3252dup c.6791dup (p.His2264GlnfsTer?) c.6803dup (p.His2268GlnfsTer?) c.6938dup (p.His2313GlnfsTer?) c.163-26dup n.927dup | gnomAD v4 |
| 17 | g.1650873G>A | CA397561972 | PRPF8 | c.6757C>T (p.His2253Tyr) c.2685C>T c.*6660C>T (n.*6660C>T) n.3251C>T c.6790C>T (p.His2264Tyr) c.6802C>T (p.His2268Tyr) c.6937C>T (p.His2313Tyr) c.163-27C>T n.926C>T | |
| 17 | g.1650873G>C | CA397561974 | PRPF8 | c.6757C>G (p.His2253Asp) c.2685C>G c.*6660C>G (n.*6660C>G) n.3251C>G c.6790C>G (p.His2264Asp) c.6802C>G (p.His2268Asp) c.6937C>G (p.His2313Asp) c.163-27C>G n.926C>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.1650873G= | CA2242977318 | PRPF8 | c.6757C= (p.His2253=) c.2685C= c.*6660C= (n.*6660C=) n.3251C= c.6790C= (p.His2264=) c.6802C= (p.His2268=) c.6937C= (p.His2313=) c.163-27C= n.926C= | |
| 17 | g.1650873G>T | CA397561975 | PRPF8 | c.6757C>A (p.His2253Asn) c.2685C>A c.*6660C>A (n.*6660C>A) n.3251C>A c.6790C>A (p.His2264Asn) c.6802C>A (p.His2268Asn) c.6937C>A (p.His2313Asn) c.163-27C>A n.926C>A | |
| 17 | g.1650874A>C | CA497291580 | PRPF8 | c.6756T>G (p.Ser2252=) c.2684T>G c.*6659T>G (n.*6659T>G) n.3250T>G c.6789T>G (p.Ser2263=) c.6801T>G (p.Ser2267=) c.6936T>G (p.Ser2312=) c.163-28T>G n.925T>G | |
| 17 | g.1650874A>G | CA497291584 | PRPF8 | c.6756T>C (p.Ser2252=) c.2684T>C c.*6659T>C (n.*6659T>C) n.3250T>C c.6789T>C (p.Ser2263=) c.6801T>C (p.Ser2267=) c.6936T>C (p.Ser2312=) c.163-28T>C n.925T>C | |
| 17 | g.1650874A>T | CA497291586 | PRPF8 | c.6756T>A (p.Ser2252=) c.2684T>A c.*6659T>A (n.*6659T>A) n.3250T>A c.6789T>A (p.Ser2263=) c.6801T>A (p.Ser2267=) c.6936T>A (p.Ser2312=) c.163-28T>A n.925T>A | |
| 17 | g.1650875G>A | CA397561977 | PRPF8 | c.6755C>T (p.Ser2252Phe) c.2683C>T c.*6658C>T (n.*6658C>T) n.3249C>T c.6788C>T (p.Ser2263Phe) c.6800C>T (p.Ser2267Phe) c.6935C>T (p.Ser2312Phe) c.163-29C>T n.924C>T | gnomAD v4 |
| 17 | g.1650875G>C | CA397561981 | PRPF8 | c.6755C>G (p.Ser2252Cys) c.2683C>G c.*6658C>G (n.*6658C>G) n.3249C>G c.6788C>G (p.Ser2263Cys) c.6800C>G (p.Ser2267Cys) c.6935C>G (p.Ser2312Cys) c.163-29C>G n.924C>G | |
| 17 | g.1650875G>T | CA397561979 | PRPF8 | c.6755C>A (p.Ser2252Tyr) c.2683C>A c.*6658C>A (n.*6658C>A) n.3249C>A c.6788C>A (p.Ser2263Tyr) c.6800C>A (p.Ser2267Tyr) c.6935C>A (p.Ser2312Tyr) c.163-29C>A n.924C>A | |
| 17 | g.1650876A>C | CA397561983 | PRPF8 | c.6754T>G (p.Ser2252Ala) c.2682T>G c.*6657T>G (n.*6657T>G) n.3248T>G c.6787T>G (p.Ser2263Ala) c.6799T>G (p.Ser2267Ala) c.6934T>G (p.Ser2312Ala) c.163-30T>G n.923T>G | |
| 17 | g.1650876A>G | CA397561988 | PRPF8 | c.6754T>C (p.Ser2252Pro) c.2682T>C c.*6657T>C (n.*6657T>C) n.3248T>C c.6787T>C (p.Ser2263Pro) c.6799T>C (p.Ser2267Pro) c.6934T>C (p.Ser2312Pro) c.163-30T>C n.923T>C | |
| 17 | g.1650876A>T | CA397561986 | PRPF8 | c.6754T>A (p.Ser2252Thr) c.2682T>A c.*6657T>A (n.*6657T>A) n.3248T>A c.6787T>A (p.Ser2263Thr) c.6799T>A (p.Ser2267Thr) c.6934T>A (p.Ser2312Thr) c.163-30T>A n.923T>A | gnomAD v4 |
| 17 | g.1650877G>A | CA497291600 | PRPF8 | c.6753C>T (p.Pro2251=) c.2681C>T c.*6656C>T (n.*6656C>T) n.3247C>T c.6786C>T (p.Pro2262=) c.6798C>T (p.Pro2266=) c.6933C>T (p.Pro2311=) c.163-31C>T n.922C>T | gnomAD v4 |
| 17 | g.1650877G>C | CA497291601 | PRPF8 | c.6753C>G (p.Pro2251=) c.2681C>G c.*6656C>G (n.*6656C>G) n.3247C>G c.6786C>G (p.Pro2262=) c.6798C>G (p.Pro2266=) c.6933C>G (p.Pro2311=) c.163-31C>G n.922C>G | |
| 17 | g.1650877G>T | CA497291602 | PRPF8 | c.6753C>A (p.Pro2251=) c.2681C>A c.*6656C>A (n.*6656C>A) n.3247C>A c.6786C>A (p.Pro2262=) c.6798C>A (p.Pro2266=) c.6933C>A (p.Pro2311=) c.163-31C>A n.922C>A | |
| 17 | g.1650878G>A | CA397561991 | PRPF8 | c.6752C>T (p.Pro2251Leu) c.2680C>T c.*6655C>T (n.*6655C>T) n.3246C>T c.6785C>T (p.Pro2262Leu) c.6797C>T (p.Pro2266Leu) c.6932C>T (p.Pro2311Leu) c.163-32C>T n.921C>T | |
| 17 | g.1650878G>C | CA397561995 | PRPF8 | c.6752C>G (p.Pro2251Arg) c.2680C>G c.*6655C>G (n.*6655C>G) n.3246C>G c.6785C>G (p.Pro2262Arg) c.6797C>G (p.Pro2266Arg) c.6932C>G (p.Pro2311Arg) c.163-32C>G n.921C>G | |
| 17 | g.1650878G>T | CA397561993 | PRPF8 | c.6752C>A (p.Pro2251His) c.2680C>A c.*6655C>A (n.*6655C>A) n.3246C>A c.6785C>A (p.Pro2262His) c.6797C>A (p.Pro2266His) c.6932C>A (p.Pro2311His) c.163-32C>A n.921C>A | |
| 17 | g.1650879G>A | CA397562001 | PRPF8 | c.6751C>T (p.Pro2251Ser) c.2679C>T c.*6654C>T (n.*6654C>T) n.3245C>T c.6784C>T (p.Pro2262Ser) c.6796C>T (p.Pro2266Ser) c.6931C>T (p.Pro2311Ser) c.163-33C>T n.920C>T | ClinVar gnomAD v4 |
| 17 | g.1650879G>C | CA397562006 | PRPF8 | c.6751C>G (p.Pro2251Ala) c.2679C>G c.*6654C>G (n.*6654C>G) n.3245C>G c.6784C>G (p.Pro2262Ala) c.6796C>G (p.Pro2266Ala) c.6931C>G (p.Pro2311Ala) c.163-33C>G n.920C>G | |
| 17 | g.1650879G>T | CA397562004 | PRPF8 | c.6751C>A (p.Pro2251Thr) c.2679C>A c.*6654C>A (n.*6654C>A) n.3245C>A c.6784C>A (p.Pro2262Thr) c.6796C>A (p.Pro2266Thr) c.6931C>A (p.Pro2311Thr) c.163-33C>A n.920C>A | |
| 17 | g.1650880C>A | CA397562009 | PRPF8 | c.6750G>T (p.Arg2250Ser) c.2678G>T c.*6653G>T (n.*6653G>T) n.3244G>T c.6783G>T (p.Arg2261Ser) c.6795G>T (p.Arg2265Ser) c.6930G>T (p.Arg2310Ser) c.163-34G>T n.919G>T | ClinVar |
| 17 | g.1650880C= | CA2242977322 | PRPF8 | c.6750G= (p.Arg2250=) c.2678G= c.*6653G= (n.*6653G=) n.3244G= c.6783G= (p.Arg2261=) c.6795G= (p.Arg2265=) c.6930G= (p.Arg2310=) c.163-34G= n.919G= | |
| 17 | g.1650880C>G | CA397562014 | PRPF8 | c.6750G>C (p.Arg2250Ser) c.2678G>C c.*6653G>C (n.*6653G>C) n.3244G>C c.6783G>C (p.Arg2261Ser) c.6795G>C (p.Arg2265Ser) c.6930G>C (p.Arg2310Ser) c.163-34G>C n.919G>C | ClinVar dbSNP |
| 17 | g.1650880C>T | CA497291613 | PRPF8 | c.6750G>A (p.Arg2250=) c.2678G>A c.*6653G>A (n.*6653G>A) n.3244G>A c.6783G>A (p.Arg2261=) c.6795G>A (p.Arg2265=) c.6930G>A (p.Arg2310=) c.163-34G>A n.919G>A | dbSNP |
| 17 | g.1650881C>A | CA397562016 | PRPF8 | c.6749G>T (p.Arg2250Met) c.2677G>T c.*6652G>T (n.*6652G>T) n.3243G>T c.6782G>T (p.Arg2261Met) c.6794G>T (p.Arg2265Met) c.6929G>T (p.Arg2310Met) c.163-35G>T n.918G>T | |
| 17 | g.1650881C= | CA2242977329 | PRPF8 | c.6749G= (p.Arg2250=) c.2677G= c.*6652G= (n.*6652G=) n.3243G= c.6782G= (p.Arg2261=) c.6794G= (p.Arg2265=) c.6929G= (p.Arg2310=) c.163-35G= n.918G= | |
| 17 | g.1650881C>G | CA397562019 | PRPF8 | c.6749G>C (p.Arg2250Thr) c.2677G>C c.*6652G>C (n.*6652G>C) n.3243G>C c.6782G>C (p.Arg2261Thr) c.6794G>C (p.Arg2265Thr) c.6929G>C (p.Arg2310Thr) c.163-35G>C n.918G>C | |
| 17 | g.1650881C>T | CA252742 | PRPF8 | c.6749G>A (p.Arg2250Lys) c.2677G>A c.*6652G>A (n.*6652G>A) n.3243G>A c.6782G>A (p.Arg2261Lys) c.6794G>A (p.Arg2265Lys) c.6929G>A (p.Arg2310Lys) c.163-35G>A n.918G>A | ClinVar dbSNP |
| 17 | g.1650882T>A | CA397562022 | PRPF8 | c.6748A>T (p.Arg2250Trp) c.2676A>T c.*6651A>T (n.*6651A>T) n.3242A>T c.6781A>T (p.Arg2261Trp) c.6793A>T (p.Arg2265Trp) c.6928A>T (p.Arg2310Trp) c.163-36A>T n.917A>T | |
| 17 | g.1650882T>C | CA397562024 | PRPF8 | c.6748A>G (p.Arg2250Gly) c.2676A>G c.*6651A>G (n.*6651A>G) n.3242A>G c.6781A>G (p.Arg2261Gly) c.6793A>G (p.Arg2265Gly) c.6928A>G (p.Arg2310Gly) c.163-36A>G n.917A>G | ClinVar dbSNP |
| 17 | g.1650882T>G | CA8271045 | PRPF8 | c.6748A>C (p.Arg2250=) c.2676A>C c.*6651A>C (n.*6651A>C) n.3242A>C c.6781A>C (p.Arg2261=) c.6793A>C (p.Arg2265=) c.6928A>C (p.Arg2310=) c.163-36A>C n.917A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650882T= | CA2242977333 | PRPF8 | c.6748A= (p.Arg2250=) c.2676A= c.*6651A= (n.*6651A=) n.3242A= c.6781A= (p.Arg2261=) c.6793A= (p.Arg2265=) c.6928A= (p.Arg2310=) c.163-36A= n.917A= | |
| 17 | g.1650883G>A | CA497291625 | PRPF8 | c.6747C>T (p.His2249=) c.2675C>T c.*6650C>T (n.*6650C>T) n.3241C>T c.6780C>T (p.His2260=) c.6792C>T (p.His2264=) c.6927C>T (p.His2309=) c.163-37C>T n.916C>T | gnomAD v4 |
| 17 | g.1650883G>C | CA397562030 | PRPF8 | c.6747C>G (p.His2249Gln) c.2675C>G c.*6650C>G (n.*6650C>G) n.3241C>G c.6780C>G (p.His2260Gln) c.6792C>G (p.His2264Gln) c.6927C>G (p.His2309Gln) c.163-37C>G n.916C>G | gnomAD v4 |
| 17 | g.1650883G>T | CA397562033 | PRPF8 | c.6747C>A (p.His2249Gln) c.2675C>A c.*6650C>A (n.*6650C>A) n.3241C>A c.6780C>A (p.His2260Gln) c.6792C>A (p.His2264Gln) c.6927C>A (p.His2309Gln) c.163-37C>A n.916C>A | |
| 17 | g.1650883_1650886delinsT | CA2695224075 | PRPF8 | c.6744_6747delinsA (p.His2249del) c.2672_2675delinsA c.*6647_*6650delinsA (n.*6647_*6650delinsA) n.3238_3241delinsA c.6777_6780delinsA (p.His2260del) c.6789_6792delinsA (p.His2264del) c.6924_6927delinsA (p.His2309del) c.163-40_163-37delinsA n.913_916delinsA | |
| 17 | g.1650884T>A | CA397562042 | PRPF8 | c.6746A>T (p.His2249Leu) c.2674A>T c.*6649A>T (n.*6649A>T) n.3240A>T c.6779A>T (p.His2260Leu) c.6791A>T (p.His2264Leu) c.6926A>T (p.His2309Leu) c.163-38A>T n.915A>T | ClinVar dbSNP |
| 17 | g.1650884T>C | CA252740 | PRPF8 | c.6746A>G (p.His2249Arg) c.2674A>G c.*6649A>G (n.*6649A>G) n.3240A>G c.6779A>G (p.His2260Arg) c.6791A>G (p.His2264Arg) c.6926A>G (p.His2309Arg) c.163-38A>G n.915A>G | ClinVar dbSNP |
| 17 | g.1650884T>G | CA252741 | PRPF8 | c.6746A>C (p.His2249Pro) c.2674A>C c.*6649A>C (n.*6649A>C) n.3240A>C c.6779A>C (p.His2260Pro) c.6791A>C (p.His2264Pro) c.6926A>C (p.His2309Pro) c.163-38A>C n.915A>C | ClinVar dbSNP |
| 17 | g.1650884T= | CA2242977340 | PRPF8 | c.6746A= (p.His2249=) c.2674A= c.*6649A= (n.*6649A=) n.3240A= c.6779A= (p.His2260=) c.6791A= (p.His2264=) c.6926A= (p.His2309=) c.163-38A= n.915A= | |
| 17 | g.1650884_1650896del | CA2635248591 | PRPF8 | c.6734_6746del (p.Tyr2245SerfsTer?) c.2662_2674del c.*6637_*6649del (n.*6637_*6649del) n.3228_3240del c.6767_6779del (p.Tyr2256SerfsTer?) c.6779_6791del (p.Tyr2260SerfsTer?) c.6914_6926del (p.Tyr2305SerfsTer?) c.163-50_163-38del n.903_915del | gnomAD v4 |
| 17 | g.1650885G>A | CA397562047 | PRPF8 | c.6745C>T (p.His2249Tyr) c.2673C>T c.*6648C>T (n.*6648C>T) n.3239C>T c.6778C>T (p.His2260Tyr) c.6790C>T (p.His2264Tyr) c.6925C>T (p.His2309Tyr) c.163-39C>T n.914C>T | |
| 17 | g.1650885G>C | CA397562049 | PRPF8 | c.6745C>G (p.His2249Asp) c.2673C>G c.*6648C>G (n.*6648C>G) n.3239C>G c.6778C>G (p.His2260Asp) c.6790C>G (p.His2264Asp) c.6925C>G (p.His2309Asp) c.163-39C>G n.914C>G | ClinVar dbSNP |
| 17 | g.1650885G>T | CA397562053 | PRPF8 | c.6745C>A (p.His2249Asn) c.2673C>A c.*6648C>A (n.*6648C>A) n.3239C>A c.6778C>A (p.His2260Asn) c.6790C>A (p.His2264Asn) c.6925C>A (p.His2309Asn) c.163-39C>A n.914C>A | |
| 17 | g.1650886C>A | CA497291640 | PRPF8 | c.6744G>T (p.Val2248=) c.2672G>T c.*6647G>T (n.*6647G>T) n.3238G>T c.6777G>T (p.Val2259=) c.6789G>T (p.Val2263=) c.6924G>T (p.Val2308=) c.163-40G>T n.913G>T | |
| 17 | g.1650886C>G | CA497291641 | PRPF8 | c.6744G>C (p.Val2248=) c.2672G>C c.*6647G>C (n.*6647G>C) n.3238G>C c.6777G>C (p.Val2259=) c.6789G>C (p.Val2263=) c.6924G>C (p.Val2308=) c.163-40G>C n.913G>C | |
| 17 | g.1650886C>T | CA497291643 | PRPF8 | c.6744G>A (p.Val2248=) c.2672G>A c.*6647G>A (n.*6647G>A) n.3238G>A c.6777G>A (p.Val2259=) c.6789G>A (p.Val2263=) c.6924G>A (p.Val2308=) c.163-40G>A n.913G>A | |
| 17 | g.1650887A>C | CA397562055 | PRPF8 | c.6743T>G (p.Val2248Gly) c.2671T>G c.*6646T>G (n.*6646T>G) n.3237T>G c.6776T>G (p.Val2259Gly) c.6788T>G (p.Val2263Gly) c.6923T>G (p.Val2308Gly) c.163-41T>G n.912T>G | |
| 17 | g.1650887A>G | CA397562058 | PRPF8 | c.6743T>C (p.Val2248Ala) c.2671T>C c.*6646T>C (n.*6646T>C) n.3237T>C c.6776T>C (p.Val2259Ala) c.6788T>C (p.Val2263Ala) c.6923T>C (p.Val2308Ala) c.163-41T>C n.912T>C | |
| 17 | g.1650887A>T | CA397562061 | PRPF8 | c.6743T>A (p.Val2248Glu) c.2671T>A c.*6646T>A (n.*6646T>A) n.3237T>A c.6776T>A (p.Val2259Glu) c.6788T>A (p.Val2263Glu) c.6923T>A (p.Val2308Glu) c.163-41T>A n.912T>A | |
| 17 | g.1650888C>A | CA397562064 | PRPF8 | c.6742G>T (p.Val2248Leu) c.2670G>T c.*6645G>T (n.*6645G>T) n.3236G>T c.6775G>T (p.Val2259Leu) c.6787G>T (p.Val2263Leu) c.6922G>T (p.Val2308Leu) c.163-42G>T n.911G>T | |
| 17 | g.1650888C>G | CA397562065 | PRPF8 | c.6742G>C (p.Val2248Leu) c.2670G>C c.*6645G>C (n.*6645G>C) n.3236G>C c.6775G>C (p.Val2259Leu) c.6787G>C (p.Val2263Leu) c.6922G>C (p.Val2308Leu) c.163-42G>C n.911G>C | |
| 17 | g.1650888C>T | CA397562066 | PRPF8 | c.6742G>A (p.Val2248Met) c.2670G>A c.*6645G>A (n.*6645G>A) n.3236G>A c.6775G>A (p.Val2259Met) c.6787G>A (p.Val2263Met) c.6922G>A (p.Val2308Met) c.163-42G>A n.911G>A | |
| 17 | g.1650889C>A | CA397562067 | PRPF8 | c.6741G>T (p.Glu2247Asp) c.2669G>T c.*6644G>T (n.*6644G>T) n.3235G>T c.6774G>T (p.Glu2258Asp) c.6786G>T (p.Glu2262Asp) c.6921G>T (p.Glu2307Asp) c.163-43G>T n.910G>T | |
| 17 | g.1650889C>G | CA397562068 | PRPF8 | c.6741G>C (p.Glu2247Asp) c.2669G>C c.*6644G>C (n.*6644G>C) n.3235G>C c.6774G>C (p.Glu2258Asp) c.6786G>C (p.Glu2262Asp) c.6921G>C (p.Glu2307Asp) c.163-43G>C n.910G>C | |
| 17 | g.1650889C>T | CA497291655 | PRPF8 | c.6741G>A (p.Glu2247=) c.2669G>A c.*6644G>A (n.*6644G>A) n.3235G>A c.6774G>A (p.Glu2258=) c.6786G>A (p.Glu2262=) c.6921G>A (p.Glu2307=) c.163-43G>A n.910G>A | gnomAD v4 |
| 17 | g.1650890T>A | CA397562078 | PRPF8 | c.6740A>T (p.Glu2247Val) c.2668A>T c.*6643A>T (n.*6643A>T) n.3234A>T c.6773A>T (p.Glu2258Val) c.6785A>T (p.Glu2262Val) c.6920A>T (p.Glu2307Val) c.163-44A>T n.909A>T | |
| 17 | g.1650890T>C | CA397562081 | PRPF8 | c.6740A>G (p.Glu2247Gly) c.2668A>G c.*6643A>G (n.*6643A>G) n.3234A>G c.6773A>G (p.Glu2258Gly) c.6785A>G (p.Glu2262Gly) c.6920A>G (p.Glu2307Gly) c.163-44A>G n.909A>G | |
| 17 | g.1650890T>G | CA397562070 | PRPF8 | c.6740A>C (p.Glu2247Ala) c.2668A>C c.*6643A>C (n.*6643A>C) n.3234A>C c.6773A>C (p.Glu2258Ala) c.6785A>C (p.Glu2262Ala) c.6920A>C (p.Glu2307Ala) c.163-44A>C n.909A>C | |
| 17 | g.1650891C>A | CA397562085 | PRPF8 | c.6739G>T (p.Glu2247Ter) c.2667G>T c.*6642G>T (n.*6642G>T) n.3233G>T c.6772G>T (p.Glu2258Ter) c.6784G>T (p.Glu2262Ter) c.6919G>T (p.Glu2307Ter) c.163-45G>T n.908G>T | |
| 17 | g.1650891C= | CA2242977346 | PRPF8 | c.6739G= (p.Glu2247=) c.2667G= c.*6642G= (n.*6642G=) n.3233G= c.6772G= (p.Glu2258=) c.6784G= (p.Glu2262=) c.6919G= (p.Glu2307=) c.163-45G= n.908G= | |
| 17 | g.1650891C>G | CA397562088 | PRPF8 | c.6739G>C (p.Glu2247Gln) c.2667G>C c.*6642G>C (n.*6642G>C) n.3233G>C c.6772G>C (p.Glu2258Gln) c.6784G>C (p.Glu2262Gln) c.6919G>C (p.Glu2307Gln) c.163-45G>C n.908G>C | |
| 17 | g.1650891C>T | CA397562091 | PRPF8 | c.6739G>A (p.Glu2247Lys) c.2667G>A c.*6642G>A (n.*6642G>A) n.3233G>A c.6772G>A (p.Glu2258Lys) c.6784G>A (p.Glu2262Lys) c.6919G>A (p.Glu2307Lys) c.163-45G>A n.908G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650892G>A | CA8271046 | PRPF8 | c.6738C>T (p.His2246=) c.2666C>T c.*6641C>T (n.*6641C>T) n.3232C>T c.6771C>T (p.His2257=) c.6783C>T (p.His2261=) c.6918C>T (p.His2306=) c.163-46C>T n.907C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650892G>C | CA8271047 | PRPF8 | c.6738C>G (p.His2246Gln) c.2666C>G c.*6641C>G (n.*6641C>G) n.3232C>G c.6771C>G (p.His2257Gln) c.6783C>G (p.His2261Gln) c.6918C>G (p.His2306Gln) c.163-46C>G n.907C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1650892G= | CA2242977352 | PRPF8 | c.6738C= (p.His2246=) c.2666C= c.*6641C= (n.*6641C=) n.3232C= c.6771C= (p.His2257=) c.6783C= (p.His2261=) c.6918C= (p.His2306=) c.163-46C= n.907C= | |
| 17 | g.1650892G>T | CA397562096 | PRPF8 | c.6738C>A (p.His2246Gln) c.2666C>A c.*6641C>A (n.*6641C>A) n.3232C>A c.6771C>A (p.His2257Gln) c.6783C>A (p.His2261Gln) c.6918C>A (p.His2306Gln) c.163-46C>A n.907C>A | COSMIC |
| 17 | g.1650893T>A | CA397562105 | PRPF8 | c.6737A>T (p.His2246Leu) c.2665A>T c.*6640A>T (n.*6640A>T) n.3231A>T c.6770A>T (p.His2257Leu) c.6782A>T (p.His2261Leu) c.6917A>T (p.His2306Leu) c.163-47A>T n.906A>T | |
| 17 | g.1650893T>C | CA397562112 | PRPF8 | c.6737A>G (p.His2246Arg) c.2665A>G c.*6640A>G (n.*6640A>G) n.3231A>G c.6770A>G (p.His2257Arg) c.6782A>G (p.His2261Arg) c.6917A>G (p.His2306Arg) c.163-47A>G n.906A>G | |
| 17 | g.1650893T>G | CA397562113 | PRPF8 | c.6737A>C (p.His2246Pro) c.2665A>C c.*6640A>C (n.*6640A>C) n.3231A>C c.6770A>C (p.His2257Pro) c.6782A>C (p.His2261Pro) c.6917A>C (p.His2306Pro) c.163-47A>C n.906A>C | |
| 17 | g.1650894G>A | CA397562115 | PRPF8 | c.6736C>T (p.His2246Tyr) c.2664C>T c.*6639C>T (n.*6639C>T) n.3230C>T c.6769C>T (p.His2257Tyr) c.6781C>T (p.His2261Tyr) c.6916C>T (p.His2306Tyr) c.163-48C>T n.905C>T | gnomAD v4 |
| 17 | g.1650894G>C | CA397562119 | PRPF8 | c.6736C>G (p.His2246Asp) c.2664C>G c.*6639C>G (n.*6639C>G) n.3230C>G c.6769C>G (p.His2257Asp) c.6781C>G (p.His2261Asp) c.6916C>G (p.His2306Asp) c.163-48C>G n.905C>G | gnomAD v4 |
| 17 | g.1650894G>T | CA397562121 | PRPF8 | c.6736C>A (p.His2246Asn) c.2664C>A c.*6639C>A (n.*6639C>A) n.3230C>A c.6769C>A (p.His2257Asn) c.6781C>A (p.His2261Asn) c.6916C>A (p.His2306Asn) c.163-48C>A n.905C>A | |
| 17 | g.1650895G>A | CA8271048 | PRPF8 | c.6735C>T (p.Tyr2245=) c.2663C>T c.*6638C>T (n.*6638C>T) n.3229C>T c.6768C>T (p.Tyr2256=) c.6780C>T (p.Tyr2260=) c.6915C>T (p.Tyr2305=) c.163-49C>T n.904C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650895G>C | CA397562122 | PRPF8 | c.6735C>G (p.Tyr2245Ter) c.2663C>G c.*6638C>G (n.*6638C>G) n.3229C>G c.6768C>G (p.Tyr2256Ter) c.6780C>G (p.Tyr2260Ter) c.6915C>G (p.Tyr2305Ter) c.163-49C>G n.904C>G | |
| 17 | g.1650895G= | CA2242977358 | PRPF8 | c.6735C= (p.Tyr2245=) c.2663C= c.*6638C= (n.*6638C=) n.3229C= c.6768C= (p.Tyr2256=) c.6780C= (p.Tyr2260=) c.6915C= (p.Tyr2305=) c.163-49C= n.904C= | |
| 17 | g.1650895G>T | CA397562125 | PRPF8 | c.6735C>A (p.Tyr2245Ter) c.2663C>A c.*6638C>A (n.*6638C>A) n.3229C>A c.6768C>A (p.Tyr2256Ter) c.6780C>A (p.Tyr2260Ter) c.6915C>A (p.Tyr2305Ter) c.163-49C>A n.904C>A | |
| 17 | g.1650896T>A | CA397562131 | PRPF8 | c.6734A>T (p.Tyr2245Phe) c.2662A>T c.*6637A>T (n.*6637A>T) n.3228A>T c.6767A>T (p.Tyr2256Phe) c.6779A>T (p.Tyr2260Phe) c.6914A>T (p.Tyr2305Phe) c.163-50A>T n.903A>T | |
| 17 | g.1650896T>C | CA397562134 | PRPF8 | c.6734A>G (p.Tyr2245Cys) c.2662A>G c.*6637A>G (n.*6637A>G) n.3228A>G c.6767A>G (p.Tyr2256Cys) c.6779A>G (p.Tyr2260Cys) c.6914A>G (p.Tyr2305Cys) c.163-50A>G n.903A>G | |
| 17 | g.1650896T>G | CA397562136 | PRPF8 | c.6734A>C (p.Tyr2245Ser) c.2662A>C c.*6637A>C (n.*6637A>C) n.3228A>C c.6767A>C (p.Tyr2256Ser) c.6779A>C (p.Tyr2260Ser) c.6914A>C (p.Tyr2305Ser) c.163-50A>C n.903A>C | |
| 17 | g.1650897A>C | CA397562140 | PRPF8 | c.6733T>G (p.Tyr2245Asp) c.2661T>G c.*6636T>G (n.*6636T>G) n.3227T>G c.6766T>G (p.Tyr2256Asp) c.6778T>G (p.Tyr2260Asp) c.6913T>G (p.Tyr2305Asp) c.163-51T>G n.902T>G | |
| 17 | g.1650897A>G | CA397562143 | PRPF8 | c.6733T>C (p.Tyr2245His) c.2661T>C c.*6636T>C (n.*6636T>C) n.3227T>C c.6766T>C (p.Tyr2256His) c.6778T>C (p.Tyr2260His) c.6913T>C (p.Tyr2305His) c.163-51T>C n.902T>C | |
| 17 | g.1650897A>T | CA397562146 | PRPF8 | c.6733T>A (p.Tyr2245Asn) c.2661T>A c.*6636T>A (n.*6636T>A) n.3227T>A c.6766T>A (p.Tyr2256Asn) c.6778T>A (p.Tyr2260Asn) c.6913T>A (p.Tyr2305Asn) c.163-51T>A n.902T>A | |
| 17 | g.1650898G>A | CA8271049 | PRPF8 | c.6732C>T (p.Phe2244=) c.2660C>T c.*6635C>T (n.*6635C>T) n.3226C>T c.6765C>T (p.Phe2255=) c.6777C>T (p.Phe2259=) c.6912C>T (p.Phe2304=) c.163-52C>T n.901C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650898G>C | CA252744 | PRPF8 | c.6732C>G (p.Phe2244Leu) c.2660C>G c.*6635C>G (n.*6635C>G) n.3226C>G c.6765C>G (p.Phe2255Leu) c.6777C>G (p.Phe2259Leu) c.6912C>G (p.Phe2304Leu) c.163-52C>G n.901C>G | ClinVar dbSNP |
| 17 | g.1650898G= | CA2242977363 | PRPF8 | c.6732C= (p.Phe2244=) c.2660C= c.*6635C= (n.*6635C=) n.3226C= c.6765C= (p.Phe2255=) c.6777C= (p.Phe2259=) c.6912C= (p.Phe2304=) c.163-52C= n.901C= | |
| 17 | g.1650898G>T | CA397562156 | PRPF8 | c.6732C>A (p.Phe2244Leu) c.2660C>A c.*6635C>A (n.*6635C>A) n.3226C>A c.6765C>A (p.Phe2255Leu) c.6777C>A (p.Phe2259Leu) c.6912C>A (p.Phe2304Leu) c.163-52C>A n.901C>A | ClinVar |
| 17 | g.1650899A>C | CA397562158 | PRPF8 | c.6731T>G (p.Phe2244Cys) c.2659T>G c.*6634T>G (n.*6634T>G) n.3225T>G c.6764T>G (p.Phe2255Cys) c.6776T>G (p.Phe2259Cys) c.6911T>G (p.Phe2304Cys) c.163-53T>G n.900T>G | |
| 17 | g.1650899A>G | CA397562164 | PRPF8 | c.6731T>C (p.Phe2244Ser) c.2659T>C c.*6634T>C (n.*6634T>C) n.3225T>C c.6764T>C (p.Phe2255Ser) c.6776T>C (p.Phe2259Ser) c.6911T>C (p.Phe2304Ser) c.163-53T>C n.900T>C | |
| 17 | g.1650899A>T | CA397562167 | PRPF8 | c.6731T>A (p.Phe2244Tyr) c.2659T>A c.*6634T>A (n.*6634T>A) n.3225T>A c.6764T>A (p.Phe2255Tyr) c.6776T>A (p.Phe2259Tyr) c.6911T>A (p.Phe2304Tyr) c.163-53T>A n.900T>A | |
| 17 | g.1650900A= | CA2242977370 | PRPF8 | c.6730T= (p.Phe2244=) c.2658T= c.*6633T= (n.*6633T=) n.3224T= c.6763T= (p.Phe2255=) c.6775T= (p.Phe2259=) c.6910T= (p.Phe2304=) c.163-54T= n.899T= | |
| 17 | g.1650900A>C | CA397562174 | PRPF8 | c.6730T>G (p.Phe2244Val) c.2658T>G c.*6633T>G (n.*6633T>G) n.3224T>G c.6763T>G (p.Phe2255Val) c.6775T>G (p.Phe2259Val) c.6910T>G (p.Phe2304Val) c.163-54T>G n.899T>G | ClinVar dbSNP |
| 17 | g.1650900A>G | CA397562173 | PRPF8 | c.6730T>C (p.Phe2244Leu) c.2658T>C c.*6633T>C (n.*6633T>C) n.3224T>C c.6763T>C (p.Phe2255Leu) c.6775T>C (p.Phe2259Leu) c.6910T>C (p.Phe2304Leu) c.163-54T>C n.899T>C | ClinVar dbSNP |
| 17 | g.1650900A>T | CA397562170 | PRPF8 | c.6730T>A (p.Phe2244Ile) c.2658T>A c.*6633T>A (n.*6633T>A) n.3224T>A c.6763T>A (p.Phe2255Ile) c.6775T>A (p.Phe2259Ile) c.6910T>A (p.Phe2304Ile) c.163-54T>A n.899T>A | |
| 17 | g.1650901C>A | CA397562176 | PRPF8 | c.6729G>T (p.Glu2243Asp) c.2657G>T c.*6632G>T (n.*6632G>T) n.3223G>T c.6762G>T (p.Glu2254Asp) c.6774G>T (p.Glu2258Asp) c.6909G>T (p.Glu2303Asp) c.163-55G>T n.898G>T | |
| 17 | g.1650901C>G | CA397562177 | PRPF8 | c.6729G>C (p.Glu2243Asp) c.2657G>C c.*6632G>C (n.*6632G>C) n.3223G>C c.6762G>C (p.Glu2254Asp) c.6774G>C (p.Glu2258Asp) c.6909G>C (p.Glu2303Asp) c.163-55G>C n.898G>C | |
| 17 | g.1650901C>T | CA497291715 | PRPF8 | c.6729G>A (p.Glu2243=) c.2657G>A c.*6632G>A (n.*6632G>A) n.3223G>A c.6762G>A (p.Glu2254=) c.6774G>A (p.Glu2258=) c.6909G>A (p.Glu2303=) c.163-55G>A n.898G>A | gnomAD v4 |
| 17 | g.1650902T>A | CA397562181 | PRPF8 | c.6728A>T (p.Glu2243Val) c.2656A>T c.*6631A>T (n.*6631A>T) n.3222A>T c.6761A>T (p.Glu2254Val) c.6773A>T (p.Glu2258Val) c.6908A>T (p.Glu2303Val) c.163-56A>T n.897A>T | |
| 17 | g.1650902T>C | CA8271050 | PRPF8 | c.6728A>G (p.Glu2243Gly) c.2656A>G c.*6631A>G (n.*6631A>G) n.3222A>G c.6761A>G (p.Glu2254Gly) c.6773A>G (p.Glu2258Gly) c.6908A>G (p.Glu2303Gly) c.163-56A>G n.897A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1650902T>G | CA397562183 | PRPF8 | c.6728A>C (p.Glu2243Ala) c.2656A>C c.*6631A>C (n.*6631A>C) n.3222A>C c.6761A>C (p.Glu2254Ala) c.6773A>C (p.Glu2258Ala) c.6908A>C (p.Glu2303Ala) c.163-56A>C n.897A>C | |
| 17 | g.1650902T= | CA2242977376 | PRPF8 | c.6728A= (p.Glu2243=) c.2656A= c.*6631A= (n.*6631A=) n.3222A= c.6761A= (p.Glu2254=) c.6773A= (p.Glu2258=) c.6908A= (p.Glu2303=) c.163-56A= n.897A= | |
| 17 | g.1650903C>A | CA397562186 | PRPF8 | c.6727G>T (p.Glu2243Ter) c.2655G>T c.*6630G>T (n.*6630G>T) n.3221G>T c.6760G>T (p.Glu2254Ter) c.6772G>T (p.Glu2258Ter) c.6907G>T (p.Glu2303Ter) c.163-57G>T n.896G>T | |
| 17 | g.1650903C>G | CA397562187 | PRPF8 | c.6727G>C (p.Glu2243Gln) c.2655G>C c.*6630G>C (n.*6630G>C) n.3221G>C c.6760G>C (p.Glu2254Gln) c.6772G>C (p.Glu2258Gln) c.6907G>C (p.Glu2303Gln) c.163-57G>C n.896G>C | |
| 17 | g.1650903C>T | CA397562190 | PRPF8 | c.6727G>A (p.Glu2243Lys) c.2655G>A c.*6630G>A (n.*6630G>A) n.3221G>A c.6760G>A (p.Glu2254Lys) c.6772G>A (p.Glu2258Lys) c.6907G>A (p.Glu2303Lys) c.163-57G>A n.896G>A | |
| 17 | g.1650904T>A | CA397562194 | PRPF8 | c.6726A>T (p.Lys2242Asn) c.2654A>T c.*6629A>T (n.*6629A>T) n.3220A>T c.6759A>T (p.Lys2253Asn) c.6771A>T (p.Lys2257Asn) c.6906A>T (p.Lys2302Asn) c.163-58A>T n.895A>T | ClinVar |
| 17 | g.1650904T>C | CA286849647 | PRPF8 | c.6726A>G (p.Lys2242=) c.2654A>G c.*6629A>G (n.*6629A>G) n.3220A>G c.6759A>G (p.Lys2253=) c.6771A>G (p.Lys2257=) c.6906A>G (p.Lys2302=) c.163-58A>G n.895A>G | dbSNP gnomAD v4 |
| 17 | g.1650904T>G | CA397562197 | PRPF8 | c.6726A>C (p.Lys2242Asn) c.2654A>C c.*6629A>C (n.*6629A>C) n.3220A>C c.6759A>C (p.Lys2253Asn) c.6771A>C (p.Lys2257Asn) c.6906A>C (p.Lys2302Asn) c.163-58A>C n.895A>C | ClinVar dbSNP |
| 17 | g.1650904T= | CA2242977378 | PRPF8 | c.6726A= (p.Lys2242=) c.2654A= c.*6629A= (n.*6629A=) n.3220A= c.6759A= (p.Lys2253=) c.6771A= (p.Lys2257=) c.6906A= (p.Lys2302=) c.163-58A= n.895A= | |
| 17 | g.1650905_1650906del | CA2635248629 | PRPF8 | c.6725_6726del (p.Lys2242ArgfsTer?) c.2653_2654del c.*6628_*6629del (n.*6628_*6629del) n.3219_3220del c.6758_6759del (p.Lys2253ArgfsTer?) c.6770_6771del (p.Lys2257ArgfsTer?) c.6905_6906del (p.Lys2302ArgfsTer?) c.163-59_163-58del n.894_895del | gnomAD v4 |
| 17 | g.1650905T>A | CA397562198 | PRPF8 | c.6725A>T (p.Lys2242Ile) c.2653A>T c.*6628A>T (n.*6628A>T) n.3219A>T c.6758A>T (p.Lys2253Ile) c.6770A>T (p.Lys2257Ile) c.6905A>T (p.Lys2302Ile) c.163-59A>T n.894A>T | |
| 17 | g.1650905T>C | CA397562207 | PRPF8 | c.6725A>G (p.Lys2242Arg) c.2653A>G c.*6628A>G (n.*6628A>G) n.3219A>G c.6758A>G (p.Lys2253Arg) c.6770A>G (p.Lys2257Arg) c.6905A>G (p.Lys2302Arg) c.163-59A>G n.894A>G | gnomAD v4 |
| 17 | g.1650905T>G | CA397562212 | PRPF8 | c.6725A>C (p.Lys2242Thr) c.2653A>C c.*6628A>C (n.*6628A>C) n.3219A>C c.6758A>C (p.Lys2253Thr) c.6770A>C (p.Lys2257Thr) c.6905A>C (p.Lys2302Thr) c.163-59A>C n.894A>C | |
| 17 | g.1650906T>A | CA397562228 | PRPF8 | c.6724A>T (p.Lys2242Ter) c.2652A>T c.*6627A>T (n.*6627A>T) n.3218A>T c.6757A>T (p.Lys2253Ter) c.6769A>T (p.Lys2257Ter) c.6904A>T (p.Lys2302Ter) c.163-60A>T n.893A>T | |
| 17 | g.1650906T>C | CA397562227 | PRPF8 | c.6724A>G (p.Lys2242Glu) c.2652A>G c.*6627A>G (n.*6627A>G) n.3218A>G c.6757A>G (p.Lys2253Glu) c.6769A>G (p.Lys2257Glu) c.6904A>G (p.Lys2302Glu) c.163-60A>G n.893A>G | |
| 17 | g.1650906T>G | CA397562221 | PRPF8 | c.6724A>C (p.Lys2242Gln) c.2652A>C c.*6627A>C (n.*6627A>C) n.3218A>C c.6757A>C (p.Lys2253Gln) c.6769A>C (p.Lys2257Gln) c.6904A>C (p.Lys2302Gln) c.163-60A>C n.893A>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.1650906T= | CA2242977383 | PRPF8 | c.6724A= (p.Lys2242=) c.2652A= c.*6627A= (n.*6627A=) n.3218A= c.6757A= (p.Lys2253=) c.6769A= (p.Lys2257=) c.6904A= (p.Lys2302=) c.163-60A= n.893A= | |
| 17 | g.1650907G>A | CA497291741 | PRPF8 | c.6723C>T (p.Pro2241=) c.2651C>T c.*6626C>T (n.*6626C>T) n.3217C>T c.6756C>T (p.Pro2252=) c.6768C>T (p.Pro2256=) c.6903C>T (p.Pro2301=) c.163-61C>T n.892C>T | |
| 17 | g.1650907G>C | CA497291742 | PRPF8 | c.6723C>G (p.Pro2241=) c.2651C>G c.*6626C>G (n.*6626C>G) n.3217C>G c.6756C>G (p.Pro2252=) c.6768C>G (p.Pro2256=) c.6903C>G (p.Pro2301=) c.163-61C>G n.892C>G | gnomAD v4 |
| 17 | g.1650907G>T | CA497291744 | PRPF8 | c.6723C>A (p.Pro2241=) c.2651C>A c.*6626C>A (n.*6626C>A) n.3217C>A c.6756C>A (p.Pro2252=) c.6768C>A (p.Pro2256=) c.6903C>A (p.Pro2301=) c.163-61C>A n.892C>A | |
| 17 | g.1650907_1650910dup | CA2635248639 | PRPF8 | c.6720_6723dup (p.Lys2242ProfsTer?) c.2648_2651dup c.*6623_*6626dup (n.*6623_*6626dup) n.3214_3217dup c.6753_6756dup (p.Lys2253ProfsTer?) c.6765_6768dup (p.Lys2257ProfsTer?) c.6900_6903dup (p.Lys2302ProfsTer?) c.163-64_163-61dup n.889_892dup | gnomAD v4 |
| 17 | g.1650908G>A | CA397562229 | PRPF8 | c.6722C>T (p.Pro2241Leu) c.2650C>T c.*6625C>T (n.*6625C>T) n.3216C>T c.6755C>T (p.Pro2252Leu) c.6767C>T (p.Pro2256Leu) c.6902C>T (p.Pro2301Leu) c.163-62C>T n.891C>T | ClinVar dbSNP COSMIC |
| 17 | g.1650908G>C | CA397562232 | PRPF8 | c.6722C>G (p.Pro2241Arg) c.2650C>G c.*6625C>G (n.*6625C>G) n.3216C>G c.6755C>G (p.Pro2252Arg) c.6767C>G (p.Pro2256Arg) c.6902C>G (p.Pro2301Arg) c.163-62C>G n.891C>G | |
| 17 | g.1650908G>T | CA397562234 | PRPF8 | c.6722C>A (p.Pro2241His) c.2650C>A c.*6625C>A (n.*6625C>A) n.3216C>A c.6755C>A (p.Pro2252His) c.6767C>A (p.Pro2256His) c.6902C>A (p.Pro2301His) c.163-62C>A n.891C>A | |
| 17 | g.1650909G>A | CA397562239 | PRPF8 | c.6721C>T (p.Pro2241Ser) c.2649C>T c.*6624C>T (n.*6624C>T) n.3215C>T c.6754C>T (p.Pro2252Ser) c.6766C>T (p.Pro2256Ser) c.6901C>T (p.Pro2301Ser) c.163-63C>T n.890C>T | ClinVar dbSNP COSMIC |
| 17 | g.1650909G>C | CA397562242 | PRPF8 | c.6721C>G (p.Pro2241Ala) c.2649C>G c.*6624C>G (n.*6624C>G) n.3215C>G c.6754C>G (p.Pro2252Ala) c.6766C>G (p.Pro2256Ala) c.6901C>G (p.Pro2301Ala) c.163-63C>G n.890C>G | |
| 17 | g.1650909G= | CA2242977389 | PRPF8 | c.6721C= (p.Pro2241=) c.2649C= c.*6624C= (n.*6624C=) n.3215C= c.6754C= (p.Pro2252=) c.6766C= (p.Pro2256=) c.6901C= (p.Pro2301=) c.163-63C= n.890C= | |
| 17 | g.1650909G>T | CA252743 | PRPF8 | c.6721C>A (p.Pro2241Thr) c.2649C>A c.*6624C>A (n.*6624C>A) n.3215C>A c.6754C>A (p.Pro2252Thr) c.6766C>A (p.Pro2256Thr) c.6901C>A (p.Pro2301Thr) c.163-63C>A n.890C>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.1650910G>A | CA8271051 | PRPF8 | c.6720C>T (p.Asn2240=) c.2648C>T c.*6623C>T (n.*6623C>T) n.3214C>T c.6753C>T (p.Asn2251=) c.6765C>T (p.Asn2255=) c.6900C>T (p.Asn2300=) c.163-64C>T n.889C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650910G>C | CA397562252 | PRPF8 | c.6720C>G (p.Asn2240Lys) c.2648C>G c.*6623C>G (n.*6623C>G) n.3214C>G c.6753C>G (p.Asn2251Lys) c.6765C>G (p.Asn2255Lys) c.6900C>G (p.Asn2300Lys) c.163-64C>G n.889C>G | |
| 17 | g.1650910G= | CA2242977393 | PRPF8 | c.6720C= (p.Asn2240=) c.2648C= c.*6623C= (n.*6623C=) n.3214C= c.6753C= (p.Asn2251=) c.6765C= (p.Asn2255=) c.6900C= (p.Asn2300=) c.163-64C= n.889C= | |
| 17 | g.1650910G>T | CA8271052 | PRPF8 | c.6720C>A (p.Asn2240Lys) c.2648C>A c.*6623C>A (n.*6623C>A) n.3214C>A c.6753C>A (p.Asn2251Lys) c.6765C>A (p.Asn2255Lys) c.6900C>A (p.Asn2300Lys) c.163-64C>A n.889C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1650911T>A | CA397562256 | PRPF8 | c.6719A>T (p.Asn2240Ile) c.2647A>T c.*6622A>T (n.*6622A>T) n.3213A>T c.6752A>T (p.Asn2251Ile) c.6764A>T (p.Asn2255Ile) c.6899A>T (p.Asn2300Ile) c.163-65A>T n.888A>T | |
| 17 | g.1650911T>C | CA397562259 | PRPF8 | c.6719A>G (p.Asn2240Ser) c.2647A>G c.*6622A>G (n.*6622A>G) n.3213A>G c.6752A>G (p.Asn2251Ser) c.6764A>G (p.Asn2255Ser) c.6899A>G (p.Asn2300Ser) c.163-65A>G n.888A>G | |
| 17 | g.1650911T>G | CA397562260 | PRPF8 | c.6719A>C (p.Asn2240Thr) c.2647A>C c.*6622A>C (n.*6622A>C) n.3213A>C c.6752A>C (p.Asn2251Thr) c.6764A>C (p.Asn2255Thr) c.6899A>C (p.Asn2300Thr) c.163-65A>C n.888A>C | |
| 17 | g.1650912T>A | CA397562266 | PRPF8 | c.6718A>T (p.Asn2240Tyr) c.2646A>T c.*6621A>T (n.*6621A>T) n.3212A>T c.6751A>T (p.Asn2251Tyr) c.6763A>T (p.Asn2255Tyr) c.6898A>T (p.Asn2300Tyr) c.163-66A>T n.887A>T | |
| 17 | g.1650912T>C | CA397562269 | PRPF8 | c.6718A>G (p.Asn2240Asp) c.2646A>G c.*6621A>G (n.*6621A>G) n.3212A>G c.6751A>G (p.Asn2251Asp) c.6763A>G (p.Asn2255Asp) c.6898A>G (p.Asn2300Asp) c.163-66A>G n.887A>G | ClinVar |
| 17 | g.1650912T>G | CA397562263 | PRPF8 | c.6718A>C (p.Asn2240His) c.2646A>C c.*6621A>C (n.*6621A>C) n.3212A>C c.6751A>C (p.Asn2251His) c.6763A>C (p.Asn2255His) c.6898A>C (p.Asn2300His) c.163-66A>C n.887A>C | |
| 17 | g.1650913C>A | CA497291760 | PRPF8 | c.6717G>T (p.Ala2239=) c.2645G>T c.*6620G>T (n.*6620G>T) n.3211G>T c.6750G>T (p.Ala2250=) c.6762G>T (p.Ala2254=) c.6897G>T (p.Ala2299=) c.163-67G>T n.886G>T | gnomAD v4 |
| 17 | g.1650913C= | CA2242977396 | PRPF8 | c.6717G= (p.Ala2239=) c.2645G= c.*6620G= (n.*6620G=) n.3211G= c.6750G= (p.Ala2250=) c.6762G= (p.Ala2254=) c.6897G= (p.Ala2299=) c.163-67G= n.886G= | |
| 17 | g.1650913C>G | CA497291762 | PRPF8 | c.6717G>C (p.Ala2239=) c.2645G>C c.*6620G>C (n.*6620G>C) n.3211G>C c.6750G>C (p.Ala2250=) c.6762G>C (p.Ala2254=) c.6897G>C (p.Ala2299=) c.163-67G>C n.886G>C | dbSNP |
| 17 | g.1650913C>T | CA8271053 | PRPF8 | c.6717G>A (p.Ala2239=) c.2645G>A c.*6620G>A (n.*6620G>A) n.3211G>A c.6750G>A (p.Ala2250=) c.6762G>A (p.Ala2254=) c.6897G>A (p.Ala2299=) c.163-67G>A n.886G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650914G>A | CA8271054 | PRPF8 | c.6716C>T (p.Ala2239Val) c.2644C>T c.*6619C>T (n.*6619C>T) n.3210C>T c.6749C>T (p.Ala2250Val) c.6761C>T (p.Ala2254Val) c.6896C>T (p.Ala2299Val) c.163-68C>T n.885C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650914G>C | CA397562279 | PRPF8 | c.6716C>G (p.Ala2239Gly) c.2644C>G c.*6619C>G (n.*6619C>G) n.3210C>G c.6749C>G (p.Ala2250Gly) c.6761C>G (p.Ala2254Gly) c.6896C>G (p.Ala2299Gly) c.163-68C>G n.885C>G | |
| 17 | g.1650914G= | CA2242977398 | PRPF8 | c.6716C= (p.Ala2239=) c.2644C= c.*6619C= (n.*6619C=) n.3210C= c.6749C= (p.Ala2250=) c.6761C= (p.Ala2254=) c.6896C= (p.Ala2299=) c.163-68C= n.885C= | |
| 17 | g.1650914G>T | CA397562281 | PRPF8 | c.6716C>A (p.Ala2239Glu) c.2644C>A c.*6619C>A (n.*6619C>A) n.3210C>A c.6749C>A (p.Ala2250Glu) c.6761C>A (p.Ala2254Glu) c.6896C>A (p.Ala2299Glu) c.163-68C>A n.885C>A | |
| 17 | g.1650914_1650917delinsTCTATGG | CA2695224076 | PRPF8 | c.6713_6716delinsCCATAGA (p.Leu2238_Ala2239delinsProIleGlu) c.2641_2644delinsCCATAGA c.*6616_*6619delinsCCATAGA (n.*6616_*6619delinsCCATAGA) n.3207_3210delinsCCATAGA c.6746_6749delinsCCATAGA (p.Leu2249_Ala2250delinsProIleGlu) c.6758_6761delinsCCATAGA (p.Leu2253_Ala2254delinsProIleGlu) c.6893_6896delinsCCATAGA (p.Leu2298_Ala2299delinsProIleGlu) c.163-71_163-68delinsCCATAGA n.882_885delinsCCATAGA | |
| 17 | g.1650915C>A | CA397562282 | PRPF8 | c.6715G>T (p.Ala2239Ser) c.2643G>T c.*6618G>T (n.*6618G>T) n.3209G>T c.6748G>T (p.Ala2250Ser) c.6760G>T (p.Ala2254Ser) c.6895G>T (p.Ala2299Ser) c.163-69G>T n.884G>T | |
| 17 | g.1650915C>G | CA397562284 | PRPF8 | c.6715G>C (p.Ala2239Pro) c.2643G>C c.*6618G>C (n.*6618G>C) n.3209G>C c.6748G>C (p.Ala2250Pro) c.6760G>C (p.Ala2254Pro) c.6895G>C (p.Ala2299Pro) c.163-69G>C n.884G>C | |
| 17 | g.1650915C>T | CA397562287 | PRPF8 | c.6715G>A (p.Ala2239Thr) c.2643G>A c.*6618G>A (n.*6618G>A) n.3209G>A c.6748G>A (p.Ala2250Thr) c.6760G>A (p.Ala2254Thr) c.6895G>A (p.Ala2299Thr) c.163-69G>A n.884G>A | ClinVar gnomAD v4 |
| 17 | g.1650916C>A | CA497291777 | PRPF8 | c.6714G>T (p.Leu2238=) c.2642G>T c.*6617G>T (n.*6617G>T) n.3208G>T c.6747G>T (p.Leu2249=) c.6759G>T (p.Leu2253=) c.6894G>T (p.Leu2298=) c.163-70G>T n.883G>T | |
| 17 | g.1650916C>G | CA497291779 | PRPF8 | c.6714G>C (p.Leu2238=) c.2642G>C c.*6617G>C (n.*6617G>C) n.3208G>C c.6747G>C (p.Leu2249=) c.6759G>C (p.Leu2253=) c.6894G>C (p.Leu2298=) c.163-70G>C n.883G>C | |
| 17 | g.1650916C>T | CA497291781 | PRPF8 | c.6714G>A (p.Leu2238=) c.2642G>A c.*6617G>A (n.*6617G>A) n.3208G>A c.6747G>A (p.Leu2249=) c.6759G>A (p.Leu2253=) c.6894G>A (p.Leu2298=) c.163-70G>A n.883G>A | gnomAD v4 |
| 17 | g.1650917A>C | CA397562290 | PRPF8 | c.6713T>G (p.Leu2238Arg) c.2641T>G c.*6616T>G (n.*6616T>G) n.3207T>G c.6746T>G (p.Leu2249Arg) c.6758T>G (p.Leu2253Arg) c.6893T>G (p.Leu2298Arg) c.163-71T>G n.882T>G | gnomAD v3 gnomAD v4 |
| 17 | g.1650917A>G | CA397562299 | PRPF8 | c.6713T>C (p.Leu2238Pro) c.2641T>C c.*6616T>C (n.*6616T>C) n.3207T>C c.6746T>C (p.Leu2249Pro) c.6758T>C (p.Leu2253Pro) c.6893T>C (p.Leu2298Pro) c.163-71T>C n.882T>C | |
| 17 | g.1650917A>T | CA397562295 | PRPF8 | c.6713T>A (p.Leu2238Gln) c.2641T>A c.*6616T>A (n.*6616T>A) n.3207T>A c.6746T>A (p.Leu2249Gln) c.6758T>A (p.Leu2253Gln) c.6893T>A (p.Leu2298Gln) c.163-71T>A n.882T>A | |
| 17 | g.1650918G>A | CA497291784 | PRPF8 | c.6712C>T (p.Leu2238=) c.2640C>T c.*6615C>T (n.*6615C>T) n.3206C>T c.6745C>T (p.Leu2249=) c.6757C>T (p.Leu2253=) c.6892C>T (p.Leu2298=) c.163-72C>T n.881C>T | gnomAD v4 |
| 17 | g.1650918G>C | CA397562303 | PRPF8 | c.6712C>G (p.Leu2238Val) c.2640C>G c.*6615C>G (n.*6615C>G) n.3206C>G c.6745C>G (p.Leu2249Val) c.6757C>G (p.Leu2253Val) c.6892C>G (p.Leu2298Val) c.163-72C>G n.881C>G | |
| 17 | g.1650918G>T | CA397562317 | PRPF8 | c.6712C>A (p.Leu2238Met) c.2640C>A c.*6615C>A (n.*6615C>A) n.3206C>A c.6745C>A (p.Leu2249Met) c.6757C>A (p.Leu2253Met) c.6892C>A (p.Leu2298Met) c.163-72C>A n.881C>A | |
| 17 | g.1650919C>A | CA397562319 | PRPF8 | c.6711G>T (p.Gln2237His) c.2639G>T c.*6614G>T (n.*6614G>T) n.3205G>T c.6744G>T (p.Gln2248His) c.6756G>T (p.Gln2252His) c.6891G>T (p.Gln2297His) c.163-73G>T n.880G>T | COSMIC |
| 17 | g.1650919C>G | CA397562320 | PRPF8 | c.6711G>C (p.Gln2237His) c.2639G>C c.*6614G>C (n.*6614G>C) n.3205G>C c.6744G>C (p.Gln2248His) c.6756G>C (p.Gln2252His) c.6891G>C (p.Gln2297His) c.163-73G>C n.880G>C | |
| 17 | g.1650919C>T | CA497291790 | PRPF8 | c.6711G>A (p.Gln2237=) c.2639G>A c.*6614G>A (n.*6614G>A) n.3205G>A c.6744G>A (p.Gln2248=) c.6756G>A (p.Gln2252=) c.6891G>A (p.Gln2297=) c.163-73G>A n.880G>A | ClinVar gnomAD v4 |
| 17 | g.1650920T>A | CA397562321 | PRPF8 | c.6710A>T (p.Gln2237Leu) c.2638A>T c.*6613A>T (n.*6613A>T) n.3204A>T c.6743A>T (p.Gln2248Leu) c.6755A>T (p.Gln2252Leu) c.6890A>T (p.Gln2297Leu) c.163-74A>T n.879A>T | |
| 17 | g.1650920T>C | CA397562324 | PRPF8 | c.6710A>G (p.Gln2237Arg) c.2638A>G c.*6613A>G (n.*6613A>G) n.3204A>G c.6743A>G (p.Gln2248Arg) c.6755A>G (p.Gln2252Arg) c.6890A>G (p.Gln2297Arg) c.163-74A>G n.879A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650920T>G | CA397562323 | PRPF8 | c.6710A>C (p.Gln2237Pro) c.2638A>C c.*6613A>C (n.*6613A>C) n.3204A>C c.6743A>C (p.Gln2248Pro) c.6755A>C (p.Gln2252Pro) c.6890A>C (p.Gln2297Pro) c.163-74A>C n.879A>C | |
| 17 | g.1650920T= | CA2242977402 | PRPF8 | c.6710A= (p.Gln2237=) c.2638A= c.*6613A= (n.*6613A=) n.3204A= c.6743A= (p.Gln2248=) c.6755A= (p.Gln2252=) c.6890A= (p.Gln2297=) c.163-74A= n.879A= | |
| 17 | g.1650921G>A | CA397562333 | PRPF8 | c.6709C>T (p.Gln2237Ter) c.2637C>T c.*6612C>T (n.*6612C>T) n.3203C>T c.6742C>T (p.Gln2248Ter) c.6754C>T (p.Gln2252Ter) c.6889C>T (p.Gln2297Ter) c.163-75C>T n.878C>T | |
| 17 | g.1650921G>C | CA397562336 | PRPF8 | c.6709C>G (p.Gln2237Glu) c.2637C>G c.*6612C>G (n.*6612C>G) n.3203C>G c.6742C>G (p.Gln2248Glu) c.6754C>G (p.Gln2252Glu) c.6889C>G (p.Gln2297Glu) c.163-75C>G n.878C>G | |
| 17 | g.1650921G>T | CA397562337 | PRPF8 | c.6709C>A (p.Gln2237Lys) c.2637C>A c.*6612C>A (n.*6612C>A) n.3203C>A c.6742C>A (p.Gln2248Lys) c.6754C>A (p.Gln2252Lys) c.6889C>A (p.Gln2297Lys) c.163-75C>A n.878C>A | gnomAD v4 |
| 17 | g.1650922T>A | CA497291802 | PRPF8 | c.6708A>T (p.Leu2236=) c.2636A>T c.*6611A>T (n.*6611A>T) n.3202A>T c.6741A>T (p.Leu2247=) c.6753A>T (p.Leu2251=) c.6888A>T (p.Leu2296=) c.163-76A>T n.877A>T | |
| 17 | g.1650922T>C | CA497291807 | PRPF8 | c.6708A>G (p.Leu2236=) c.2636A>G c.*6611A>G (n.*6611A>G) n.3202A>G c.6741A>G (p.Leu2247=) c.6753A>G (p.Leu2251=) c.6888A>G (p.Leu2296=) c.163-76A>G n.877A>G | |
| 17 | g.1650922T>G | CA497291808 | PRPF8 | c.6708A>C (p.Leu2236=) c.2636A>C c.*6611A>C (n.*6611A>C) n.3202A>C c.6741A>C (p.Leu2247=) c.6753A>C (p.Leu2251=) c.6888A>C (p.Leu2296=) c.163-76A>C n.877A>C | |
| 17 | g.1650923A>C | CA397562339 | PRPF8 | c.6707T>G (p.Leu2236Arg) c.2635T>G c.*6610T>G (n.*6610T>G) n.3201T>G c.6740T>G (p.Leu2247Arg) c.6752T>G (p.Leu2251Arg) c.6887T>G (p.Leu2296Arg) c.163-77T>G n.876T>G | |
| 17 | g.1650923A>G | CA397562340 | PRPF8 | c.6707T>C (p.Leu2236Pro) c.2635T>C c.*6610T>C (n.*6610T>C) n.3201T>C c.6740T>C (p.Leu2247Pro) c.6752T>C (p.Leu2251Pro) c.6887T>C (p.Leu2296Pro) c.163-77T>C n.876T>C | dbSNP |
| 17 | g.1650923A>T | CA397562341 | PRPF8 | c.6707T>A (p.Leu2236Gln) c.2635T>A c.*6610T>A (n.*6610T>A) n.3201T>A c.6740T>A (p.Leu2247Gln) c.6752T>A (p.Leu2251Gln) c.6887T>A (p.Leu2296Gln) c.163-77T>A n.876T>A | |
| 17 | g.1650924G>A | CA497291813 | PRPF8 | c.6706C>T (p.Leu2236=) c.2634C>T c.*6609C>T (n.*6609C>T) n.3200C>T c.6739C>T (p.Leu2247=) c.6751C>T (p.Leu2251=) c.6886C>T (p.Leu2296=) c.163-78C>T n.875C>T | gnomAD v4 |
| 17 | g.1650924G>C | CA397562342 | PRPF8 | c.6706C>G (p.Leu2236Val) c.2634C>G c.*6609C>G (n.*6609C>G) n.3200C>G c.6739C>G (p.Leu2247Val) c.6751C>G (p.Leu2251Val) c.6886C>G (p.Leu2296Val) c.163-78C>G n.875C>G | |
| 17 | g.1650924G>T | CA397562343 | PRPF8 | c.6706C>A (p.Leu2236Ile) c.2634C>A c.*6609C>A (n.*6609C>A) n.3200C>A c.6739C>A (p.Leu2247Ile) c.6751C>A (p.Leu2251Ile) c.6886C>A (p.Leu2296Ile) c.163-78C>A n.875C>A | |
| 17 | g.1650925C>A | CA397562345 | PRPF8 | c.6705G>T (p.Glu2235Asp) c.2633G>T c.*6608G>T (n.*6608G>T) n.3199G>T c.6738G>T (p.Glu2246Asp) c.6750G>T (p.Glu2250Asp) c.6885G>T (p.Glu2295Asp) c.163-79G>T n.874G>T | |
| 17 | g.1650925C= | CA2242977408 | PRPF8 | c.6705G= (p.Glu2235=) c.2633G= c.*6608G= (n.*6608G=) n.3199G= c.6738G= (p.Glu2246=) c.6750G= (p.Glu2250=) c.6885G= (p.Glu2295=) c.163-79G= n.874G= | |
| 17 | g.1650925C>G | CA397562347 | PRPF8 | c.6705G>C (p.Glu2235Asp) c.2633G>C c.*6608G>C (n.*6608G>C) n.3199G>C c.6738G>C (p.Glu2246Asp) c.6750G>C (p.Glu2250Asp) c.6885G>C (p.Glu2295Asp) c.163-79G>C n.874G>C | |
| 17 | g.1650925C>T | CA8271055 | PRPF8 | c.6705G>A (p.Glu2235=) c.2633G>A c.*6608G>A (n.*6608G>A) n.3199G>A c.6738G>A (p.Glu2246=) c.6750G>A (p.Glu2250=) c.6885G>A (p.Glu2295=) c.163-79G>A n.874G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1650926T>A | CA397562361 | PRPF8 | c.6704A>T (p.Glu2235Val) c.2632A>T c.*6607A>T (n.*6607A>T) n.3198A>T c.6737A>T (p.Glu2246Val) c.6749A>T (p.Glu2250Val) c.6884A>T (p.Glu2295Val) c.163-80A>T n.873A>T | |
| 17 | g.1650926T>C | CA397562358 | PRPF8 | c.6704A>G (p.Glu2235Gly) c.2632A>G c.*6607A>G (n.*6607A>G) n.3198A>G c.6737A>G (p.Glu2246Gly) c.6749A>G (p.Glu2250Gly) c.6884A>G (p.Glu2295Gly) c.163-80A>G n.873A>G | |
| 17 | g.1650926T>G | CA397562354 | PRPF8 | c.6704A>C (p.Glu2235Ala) c.2632A>C c.*6607A>C (n.*6607A>C) n.3198A>C c.6737A>C (p.Glu2246Ala) c.6749A>C (p.Glu2250Ala) c.6884A>C (p.Glu2295Ala) c.163-80A>C n.873A>C | |
| 17 | g.1650927C>A | CA397562365 | PRPF8 | c.6703G>T (p.Glu2235Ter) c.2631G>T c.*6606G>T (n.*6606G>T) n.3197G>T c.6736G>T (p.Glu2246Ter) c.6748G>T (p.Glu2250Ter) c.6883G>T (p.Glu2295Ter) c.163-81G>T n.872G>T | |
| 17 | g.1650927C>G | CA397562372 | PRPF8 | c.6703G>C (p.Glu2235Gln) c.2631G>C c.*6606G>C (n.*6606G>C) n.3197G>C c.6736G>C (p.Glu2246Gln) c.6748G>C (p.Glu2250Gln) c.6883G>C (p.Glu2295Gln) c.163-81G>C n.872G>C | |
| 17 | g.1650927C>T | CA397562368 | PRPF8 | c.6703G>A (p.Glu2235Lys) c.2631G>A c.*6606G>A (n.*6606G>A) n.3197G>A c.6736G>A (p.Glu2246Lys) c.6748G>A (p.Glu2250Lys) c.6883G>A (p.Glu2295Lys) c.163-81G>A n.872G>A | |
| 17 | g.1650928A= | CA2242977414 | PRPF8 | c.6702T= (p.Tyr2234=) c.2630T= c.*6605T= (n.*6605T=) n.3196T= c.6735T= (p.Tyr2245=) c.6747T= (p.Tyr2249=) c.6882T= (p.Tyr2294=) c.163-82T= n.871T= | |
| 17 | g.1650928A>C | CA397562377 | PRPF8 | c.6702T>G (p.Tyr2234Ter) c.2630T>G c.*6605T>G (n.*6605T>G) n.3196T>G c.6735T>G (p.Tyr2245Ter) c.6747T>G (p.Tyr2249Ter) c.6882T>G (p.Tyr2294Ter) c.163-82T>G n.871T>G | dbSNP gnomAD v4 |
| 17 | g.1650928A>G | CA8271056 | PRPF8 | c.6702T>C (p.Tyr2234=) c.2630T>C c.*6605T>C (n.*6605T>C) n.3196T>C c.6735T>C (p.Tyr2245=) c.6747T>C (p.Tyr2249=) c.6882T>C (p.Tyr2294=) c.163-82T>C n.871T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650928A>T | CA397562378 | PRPF8 | c.6702T>A (p.Tyr2234Ter) c.2630T>A c.*6605T>A (n.*6605T>A) n.3196T>A c.6735T>A (p.Tyr2245Ter) c.6747T>A (p.Tyr2249Ter) c.6882T>A (p.Tyr2294Ter) c.163-82T>A n.871T>A | |
| 17 | g.1650929T>A | CA397562380 | PRPF8 | c.6701A>T (p.Tyr2234Phe) c.2629A>T c.*6604A>T (n.*6604A>T) n.3195A>T c.6734A>T (p.Tyr2245Phe) c.6746A>T (p.Tyr2249Phe) c.6881A>T (p.Tyr2294Phe) c.163-83A>T n.870A>T | |
| 17 | g.1650929T>C | CA397562391 | PRPF8 | c.6701A>G (p.Tyr2234Cys) c.2629A>G c.*6604A>G (n.*6604A>G) n.3195A>G c.6734A>G (p.Tyr2245Cys) c.6746A>G (p.Tyr2249Cys) c.6881A>G (p.Tyr2294Cys) c.163-83A>G n.870A>G | |
| 17 | g.1650929T>G | CA397562392 | PRPF8 | c.6701A>C (p.Tyr2234Ser) c.2629A>C c.*6604A>C (n.*6604A>C) n.3195A>C c.6734A>C (p.Tyr2245Ser) c.6746A>C (p.Tyr2249Ser) c.6881A>C (p.Tyr2294Ser) c.163-83A>C n.870A>C | |
| 17 | g.1650930A>C | CA397562408 | PRPF8 | c.6700T>G (p.Tyr2234Asp) c.2628T>G c.*6603T>G (n.*6603T>G) n.3194T>G c.6733T>G (p.Tyr2245Asp) c.6745T>G (p.Tyr2249Asp) c.6880T>G (p.Tyr2294Asp) c.163-84T>G n.869T>G | |
| 17 | g.1650930A>G | CA397562401 | PRPF8 | c.6700T>C (p.Tyr2234His) c.2628T>C c.*6603T>C (n.*6603T>C) n.3194T>C c.6733T>C (p.Tyr2245His) c.6745T>C (p.Tyr2249His) c.6880T>C (p.Tyr2294His) c.163-84T>C n.869T>C | |
| 17 | g.1650930A>T | CA397562404 | PRPF8 | c.6700T>A (p.Tyr2234Asn) c.2628T>A c.*6603T>A (n.*6603T>A) n.3194T>A c.6733T>A (p.Tyr2245Asn) c.6745T>A (p.Tyr2249Asn) c.6880T>A (p.Tyr2294Asn) c.163-84T>A n.869T>A | |
| 17 | g.1650931T>A | CA397562413 | PRPF8 | c.6699A>T (p.Lys2233Asn) c.2627A>T c.*6602A>T (n.*6602A>T) n.3193A>T c.6732A>T (p.Lys2244Asn) c.6744A>T (p.Lys2248Asn) c.6879A>T (p.Lys2293Asn) c.163-85A>T n.868A>T | |
| 17 | g.1650931T>C | CA497291829 | PRPF8 | c.6699A>G (p.Lys2233=) c.2627A>G c.*6602A>G (n.*6602A>G) n.3193A>G c.6732A>G (p.Lys2244=) c.6744A>G (p.Lys2248=) c.6879A>G (p.Lys2293=) c.163-85A>G n.868A>G | |
| 17 | g.1650931T>G | CA397562415 | PRPF8 | c.6699A>C (p.Lys2233Asn) c.2627A>C c.*6602A>C (n.*6602A>C) n.3193A>C c.6732A>C (p.Lys2244Asn) c.6744A>C (p.Lys2248Asn) c.6879A>C (p.Lys2293Asn) c.163-85A>C n.868A>C | |
| 17 | g.1650932T>A | CA397562421 | PRPF8 | c.6698A>T (p.Lys2233Ile) c.2626A>T c.*6601A>T (n.*6601A>T) n.3192A>T c.6731A>T (p.Lys2244Ile) c.6743A>T (p.Lys2248Ile) c.6878A>T (p.Lys2293Ile) c.163-86A>T n.867A>T | |
| 17 | g.1650932T>C | CA397562423 | PRPF8 | c.6698A>G (p.Lys2233Arg) c.2626A>G c.*6601A>G (n.*6601A>G) n.3192A>G c.6731A>G (p.Lys2244Arg) c.6743A>G (p.Lys2248Arg) c.6878A>G (p.Lys2293Arg) c.163-86A>G n.867A>G | |
| 17 | g.1650932T>G | CA397562425 | PRPF8 | c.6698A>C (p.Lys2233Thr) c.2626A>C c.*6601A>C (n.*6601A>C) n.3192A>C c.6731A>C (p.Lys2244Thr) c.6743A>C (p.Lys2248Thr) c.6878A>C (p.Lys2293Thr) c.163-86A>C n.867A>C | |
| 17 | g.1650933T>A | CA397562428 | PRPF8 | c.6697A>T (p.Lys2233Ter) c.2625A>T c.*6600A>T (n.*6600A>T) n.3191A>T c.6730A>T (p.Lys2244Ter) c.6742A>T (p.Lys2248Ter) c.6877A>T (p.Lys2293Ter) c.163-87A>T n.866A>T | |
| 17 | g.1650933T>C | CA397562443 | PRPF8 | c.6697A>G (p.Lys2233Glu) c.2625A>G c.*6600A>G (n.*6600A>G) n.3191A>G c.6730A>G (p.Lys2244Glu) c.6742A>G (p.Lys2248Glu) c.6877A>G (p.Lys2293Glu) c.163-87A>G n.866A>G | |
| 17 | g.1650933T>G | CA397562441 | PRPF8 | c.6697A>C (p.Lys2233Gln) c.2625A>C c.*6600A>C (n.*6600A>C) n.3191A>C c.6730A>C (p.Lys2244Gln) c.6742A>C (p.Lys2248Gln) c.6877A>C (p.Lys2293Gln) c.163-87A>C n.866A>C | |
| 17 | g.1650934C>A | CA397562446 | PRPF8 | c.6696G>T (p.Met2232Ile) c.2624G>T c.*6599G>T (n.*6599G>T) n.3190G>T c.6729G>T (p.Met2243Ile) c.6741G>T (p.Met2247Ile) c.6876G>T (p.Met2292Ile) c.163-88G>T n.865G>T | |
| 17 | g.1650934C>G | CA397562454 | PRPF8 | c.6696G>C (p.Met2232Ile) c.2624G>C c.*6599G>C (n.*6599G>C) n.3190G>C c.6729G>C (p.Met2243Ile) c.6741G>C (p.Met2247Ile) c.6876G>C (p.Met2292Ile) c.163-88G>C n.865G>C | |
| 17 | g.1650934C>T | CA397562458 | PRPF8 | c.6696G>A (p.Met2232Ile) c.2624G>A c.*6599G>A (n.*6599G>A) n.3190G>A c.6729G>A (p.Met2243Ile) c.6741G>A (p.Met2247Ile) c.6876G>A (p.Met2292Ile) c.163-88G>A n.865G>A | |
| 17 | g.1650935A>C | CA397562466 | PRPF8 | c.6695T>G (p.Met2232Arg) c.2623T>G c.*6598T>G (n.*6598T>G) n.3189T>G c.6728T>G (p.Met2243Arg) c.6740T>G (p.Met2247Arg) c.6875T>G (p.Met2292Arg) c.163-89T>G n.864T>G | |
| 17 | g.1650935A>G | CA397562473 | PRPF8 | c.6695T>C (p.Met2232Thr) c.2623T>C c.*6598T>C (n.*6598T>C) n.3189T>C c.6728T>C (p.Met2243Thr) c.6740T>C (p.Met2247Thr) c.6875T>C (p.Met2292Thr) c.163-89T>C n.864T>C | gnomAD v4 |
| 17 | g.1650935A>T | CA397562478 | PRPF8 | c.6695T>A (p.Met2232Lys) c.2623T>A c.*6598T>A (n.*6598T>A) n.3189T>A c.6728T>A (p.Met2243Lys) c.6740T>A (p.Met2247Lys) c.6875T>A (p.Met2292Lys) c.163-89T>A n.864T>A | |
| 17 | g.1650936T>A | CA397562481 | PRPF8 | c.6694A>T (p.Met2232Leu) c.2622A>T c.*6597A>T (n.*6597A>T) n.3188A>T c.6727A>T (p.Met2243Leu) c.6739A>T (p.Met2247Leu) c.6874A>T (p.Met2292Leu) c.163-90A>T n.863A>T | |
| 17 | g.1650936T>C | CA397562486 | PRPF8 | c.6694A>G (p.Met2232Val) c.2622A>G c.*6597A>G (n.*6597A>G) n.3188A>G c.6727A>G (p.Met2243Val) c.6739A>G (p.Met2247Val) c.6874A>G (p.Met2292Val) c.163-90A>G n.863A>G | gnomAD v4 |
| 17 | g.1650936T>G | CA397562487 | PRPF8 | c.6694A>C (p.Met2232Leu) c.2622A>C c.*6597A>C (n.*6597A>C) n.3188A>C c.6727A>C (p.Met2243Leu) c.6739A>C (p.Met2247Leu) c.6874A>C (p.Met2292Leu) c.163-90A>C n.863A>C | |
| 17 | g.1650937G>A | CA497291859 | PRPF8 | c.6693C>T (p.Asn2231=) c.2621C>T c.*6596C>T (n.*6596C>T) n.3187C>T c.6726C>T (p.Asn2242=) c.6738C>T (p.Asn2246=) c.6873C>T (p.Asn2291=) c.163-91C>T n.862C>T | gnomAD v4 |
| 17 | g.1650937G>C | CA397562490 | PRPF8 | c.6693C>G (p.Asn2231Lys) c.2621C>G c.*6596C>G (n.*6596C>G) n.3187C>G c.6726C>G (p.Asn2242Lys) c.6738C>G (p.Asn2246Lys) c.6873C>G (p.Asn2291Lys) c.163-91C>G n.862C>G | |
| 17 | g.1650937G>T | CA397562493 | PRPF8 | c.6693C>A (p.Asn2231Lys) c.2621C>A c.*6596C>A (n.*6596C>A) n.3187C>A c.6726C>A (p.Asn2242Lys) c.6738C>A (p.Asn2246Lys) c.6873C>A (p.Asn2291Lys) c.163-91C>A n.862C>A | |
| 17 | g.1650938T>A | CA397562495 | PRPF8 | c.6692A>T (p.Asn2231Ile) c.2620A>T c.*6595A>T (n.*6595A>T) n.3186A>T c.6725A>T (p.Asn2242Ile) c.6737A>T (p.Asn2246Ile) c.6872A>T (p.Asn2291Ile) c.163-92A>T n.861A>T | |
| 17 | g.1650938T>C | CA286849694 | PRPF8 | c.6692A>G (p.Asn2231Ser) c.2620A>G c.*6595A>G (n.*6595A>G) n.3186A>G c.6725A>G (p.Asn2242Ser) c.6737A>G (p.Asn2246Ser) c.6872A>G (p.Asn2291Ser) c.163-92A>G n.861A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.1650938T>G | CA397562497 | PRPF8 | c.6692A>C (p.Asn2231Thr) c.2620A>C c.*6595A>C (n.*6595A>C) n.3186A>C c.6725A>C (p.Asn2242Thr) c.6737A>C (p.Asn2246Thr) c.6872A>C (p.Asn2291Thr) c.163-92A>C n.861A>C | gnomAD v4 |
| 17 | g.1650938T= | CA2242977418 | PRPF8 | c.6692A= (p.Asn2231=) c.2620A= c.*6595A= (n.*6595A=) n.3186A= c.6725A= (p.Asn2242=) c.6737A= (p.Asn2246=) c.6872A= (p.Asn2291=) c.163-92A= n.861A= | |
| 17 | g.1650939T>A | CA397562501 | PRPF8 | c.6691A>T (p.Asn2231Tyr) c.2619A>T c.*6594A>T (n.*6594A>T) n.3185A>T c.6724A>T (p.Asn2242Tyr) c.6736A>T (p.Asn2246Tyr) c.6871A>T (p.Asn2291Tyr) c.163-93A>T n.860A>T | |
| 17 | g.1650939T>C | CA397562504 | PRPF8 | c.6691A>G (p.Asn2231Asp) c.2619A>G c.*6594A>G (n.*6594A>G) n.3185A>G c.6724A>G (p.Asn2242Asp) c.6736A>G (p.Asn2246Asp) c.6871A>G (p.Asn2291Asp) c.163-93A>G n.860A>G | |
| 17 | g.1650939T>G | CA397562508 | PRPF8 | c.6691A>C (p.Asn2231His) c.2619A>C c.*6594A>C (n.*6594A>C) n.3185A>C c.6724A>C (p.Asn2242His) c.6736A>C (p.Asn2246His) c.6871A>C (p.Asn2291His) c.163-93A>C n.860A>C | |
| 17 | g.1650940G>A | CA497291875 | PRPF8 | c.6690C>T (p.Pro2230=) c.2618C>T c.*6593C>T (n.*6593C>T) n.3184C>T c.6723C>T (p.Pro2241=) c.6735C>T (p.Pro2245=) c.6870C>T (p.Pro2290=) c.163-94C>T n.859C>T | |
| 17 | g.1650940G>C | CA497291877 | PRPF8 | c.6690C>G (p.Pro2230=) c.2618C>G c.*6593C>G (n.*6593C>G) n.3184C>G c.6723C>G (p.Pro2241=) c.6735C>G (p.Pro2245=) c.6870C>G (p.Pro2290=) c.163-94C>G n.859C>G | |
| 17 | g.1650940G>T | CA497291880 | PRPF8 | c.6690C>A (p.Pro2230=) c.2618C>A c.*6593C>A (n.*6593C>A) n.3184C>A c.6723C>A (p.Pro2241=) c.6735C>A (p.Pro2245=) c.6870C>A (p.Pro2290=) c.163-94C>A n.859C>A | |
| 17 | g.1650941G>A | CA397562510 | PRPF8 | c.6689C>T (p.Pro2230Leu) c.2617C>T c.*6592C>T (n.*6592C>T) n.3183C>T c.6722C>T (p.Pro2241Leu) c.6734C>T (p.Pro2245Leu) c.6869C>T (p.Pro2290Leu) c.163-95C>T n.858C>T | |
| 17 | g.1650941G>C | CA397562512 | PRPF8 | c.6689C>G (p.Pro2230Arg) c.2617C>G c.*6592C>G (n.*6592C>G) n.3183C>G c.6722C>G (p.Pro2241Arg) c.6734C>G (p.Pro2245Arg) c.6869C>G (p.Pro2290Arg) c.163-95C>G n.858C>G | |
| 17 | g.1650941G>T | CA397562514 | PRPF8 | c.6689C>A (p.Pro2230His) c.2617C>A c.*6592C>A (n.*6592C>A) n.3183C>A c.6722C>A (p.Pro2241His) c.6734C>A (p.Pro2245His) c.6869C>A (p.Pro2290His) c.163-95C>A n.858C>A | |
| 17 | g.1650942G>A | CA397562519 | PRPF8 | c.6688C>T (p.Pro2230Ser) c.2616C>T c.*6591C>T (n.*6591C>T) n.3182C>T c.6721C>T (p.Pro2241Ser) c.6733C>T (p.Pro2245Ser) c.6868C>T (p.Pro2290Ser) c.163-96C>T n.857C>T | gnomAD v4 |
| 17 | g.1650942G>C | CA397562523 | PRPF8 | c.6688C>G (p.Pro2230Ala) c.2616C>G c.*6591C>G (n.*6591C>G) n.3182C>G c.6721C>G (p.Pro2241Ala) c.6733C>G (p.Pro2245Ala) c.6868C>G (p.Pro2290Ala) c.163-96C>G n.857C>G | gnomAD v4 |
| 17 | g.1650942G>T | CA397562525 | PRPF8 | c.6688C>A (p.Pro2230Thr) c.2616C>A c.*6591C>A (n.*6591C>A) n.3182C>A c.6721C>A (p.Pro2241Thr) c.6733C>A (p.Pro2245Thr) c.6868C>A (p.Pro2290Thr) c.163-96C>A n.857C>A | |
| 17 | g.1650943G>A | CA8271057 | PRPF8 | c.6687C>T (p.Asp2229=) c.2615C>T c.*6590C>T (n.*6590C>T) n.3181C>T c.6720C>T (p.Asp2240=) c.6732C>T (p.Asp2244=) c.6867C>T (p.Asp2289=) c.163-97C>T n.856C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1650943G>C | CA8271058 | PRPF8 | c.6687C>G (p.Asp2229Glu) c.2615C>G c.*6590C>G (n.*6590C>G) n.3181C>G c.6720C>G (p.Asp2240Glu) c.6732C>G (p.Asp2244Glu) c.6867C>G (p.Asp2289Glu) c.163-97C>G n.856C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1650943G= | CA2242977420 | PRPF8 | c.6687C= (p.Asp2229=) c.2615C= c.*6590C= (n.*6590C=) n.3181C= c.6720C= (p.Asp2240=) c.6732C= (p.Asp2244=) c.6867C= (p.Asp2289=) c.163-97C= n.856C= | |
| 17 | g.1650943G>T | CA397562552 | PRPF8 | c.6687C>A (p.Asp2229Glu) c.2615C>A c.*6590C>A (n.*6590C>A) n.3181C>A c.6720C>A (p.Asp2240Glu) c.6732C>A (p.Asp2244Glu) c.6867C>A (p.Asp2289Glu) c.163-97C>A n.856C>A | |
| 17 | g.1650944T>A | CA397562564 | PRPF8 | c.6686A>T (p.Asp2229Val) c.2614A>T c.*6589A>T (n.*6589A>T) n.3180A>T c.6719A>T (p.Asp2240Val) c.6731A>T (p.Asp2244Val) c.6866A>T (p.Asp2289Val) c.163-98A>T n.855A>T | |
| 17 | g.1650944T>C | CA397562557 | PRPF8 | c.6686A>G (p.Asp2229Gly) c.2614A>G c.*6589A>G (n.*6589A>G) n.3180A>G c.6719A>G (p.Asp2240Gly) c.6731A>G (p.Asp2244Gly) c.6866A>G (p.Asp2289Gly) c.163-98A>G n.855A>G | |
| 17 | g.1650944T>G | CA397562562 | PRPF8 | c.6686A>C (p.Asp2229Ala) c.2614A>C c.*6589A>C (n.*6589A>C) n.3180A>C c.6719A>C (p.Asp2240Ala) c.6731A>C (p.Asp2244Ala) c.6866A>C (p.Asp2289Ala) c.163-98A>C n.855A>C | |
| 17 | g.1650945C>A | CA397562566 | PRPF8 | c.6685G>T (p.Asp2229Tyr) c.2613G>T c.*6588G>T (n.*6588G>T) n.3179G>T c.6718G>T (p.Asp2240Tyr) c.6730G>T (p.Asp2244Tyr) c.6865G>T (p.Asp2289Tyr) c.163-99G>T n.854G>T | |
| 17 | g.1650945C= | CA2242977423 | PRPF8 | c.6685G= (p.Asp2229=) c.2613G= c.*6588G= (n.*6588G=) n.3179G= c.6718G= (p.Asp2240=) c.6730G= (p.Asp2244=) c.6865G= (p.Asp2289=) c.163-99G= n.854G= | |
| 17 | g.1650945C>G | CA397562567 | PRPF8 | c.6685G>C (p.Asp2229His) c.2613G>C c.*6588G>C (n.*6588G>C) n.3179G>C c.6718G>C (p.Asp2240His) c.6730G>C (p.Asp2244His) c.6865G>C (p.Asp2289His) c.163-99G>C n.854G>C | |
| 17 | g.1650945C>T | CA8271059 | PRPF8 | c.6685G>A (p.Asp2229Asn) c.2613G>A c.*6588G>A (n.*6588G>A) n.3179G>A c.6718G>A (p.Asp2240Asn) c.6730G>A (p.Asp2244Asn) c.6865G>A (p.Asp2289Asn) c.163-99G>A n.854G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1650946A>C | CA397562568 | PRPF8 | c.6684T>G (p.His2228Gln) c.2612T>G c.*6587T>G (n.*6587T>G) n.3178T>G c.6717T>G (p.His2239Gln) c.6729T>G (p.His2243Gln) c.6864T>G (p.His2288Gln) c.163-100T>G n.853T>G | |
| 17 | g.1650946A>G | CA497291891 | PRPF8 | c.6684T>C (p.His2228=) c.2612T>C c.*6587T>C (n.*6587T>C) n.3178T>C c.6717T>C (p.His2239=) c.6729T>C (p.His2243=) c.6864T>C (p.His2288=) c.163-100T>C n.853T>C | |
| 17 | g.1650946A>T | CA397562569 | PRPF8 | c.6684T>A (p.His2228Gln) c.2612T>A c.*6587T>A (n.*6587T>A) n.3178T>A c.6717T>A (p.His2239Gln) c.6729T>A (p.His2243Gln) c.6864T>A (p.His2288Gln) c.163-100T>A n.853T>A | |
| 17 | g.1650947T>A | CA397562574 | PRPF8 | c.6683A>T (p.His2228Leu) c.2611A>T c.*6586A>T (n.*6586A>T) n.3177A>T c.6716A>T (p.His2239Leu) c.6728A>T (p.His2243Leu) c.6863A>T (p.His2288Leu) c.163-101A>T n.852A>T | |
| 17 | g.1650947T>C | CA397562578 | PRPF8 | c.6683A>G (p.His2228Arg) c.2611A>G c.*6586A>G (n.*6586A>G) n.3177A>G c.6716A>G (p.His2239Arg) c.6728A>G (p.His2243Arg) c.6863A>G (p.His2288Arg) c.163-101A>G n.852A>G | |
| 17 | g.1650947T>G | CA397562587 | PRPF8 | c.6683A>C (p.His2228Pro) c.2611A>C c.*6586A>C (n.*6586A>C) n.3177A>C c.6716A>C (p.His2239Pro) c.6728A>C (p.His2243Pro) c.6863A>C (p.His2288Pro) c.163-101A>C n.852A>C | |
| 17 | g.1650948G>A | CA286849715 | PRPF8 | c.6682C>T (p.His2228Tyr) c.2610C>T c.*6585C>T (n.*6585C>T) n.3176C>T c.6715C>T (p.His2239Tyr) c.6727C>T (p.His2243Tyr) c.6862C>T (p.His2288Tyr) c.163-102C>T n.851C>T | dbSNP |
| 17 | g.1650948G>C | CA397562596 | PRPF8 | c.6682C>G (p.His2228Asp) c.2610C>G c.*6585C>G (n.*6585C>G) n.3176C>G c.6715C>G (p.His2239Asp) c.6727C>G (p.His2243Asp) c.6862C>G (p.His2288Asp) c.163-102C>G n.851C>G | |
| 17 | g.1650948G= | CA2242977425 | PRPF8 | c.6682C= (p.His2228=) c.2610C= c.*6585C= (n.*6585C=) n.3176C= c.6715C= (p.His2239=) c.6727C= (p.His2243=) c.6862C= (p.His2288=) c.163-102C= n.851C= | |
| 17 | g.1650948G>T | CA397562609 | PRPF8 | c.6682C>A (p.His2228Asn) c.2610C>A c.*6585C>A (n.*6585C>A) n.3176C>A c.6715C>A (p.His2239Asn) c.6727C>A (p.His2243Asn) c.6862C>A (p.His2288Asn) c.163-102C>A n.851C>A | |
| 17 | g.1650949C>A | CA497291904 | PRPF8 | c.6681G>T (p.Arg2227=) c.2609G>T c.*6584G>T (n.*6584G>T) n.3175G>T c.6714G>T (p.Arg2238=) c.6726G>T (p.Arg2242=) c.6861G>T (p.Arg2287=) c.163-103G>T n.850G>T | dbSNP |
| 17 | g.1650949C= | CA2242977428 | PRPF8 | c.6681G= (p.Arg2227=) c.2609G= c.*6584G= (n.*6584G=) n.3175G= c.6714G= (p.Arg2238=) c.6726G= (p.Arg2242=) c.6861G= (p.Arg2287=) c.163-103G= n.850G= | |
| 17 | g.1650949C>G | CA497291905 | PRPF8 | c.6681G>C (p.Arg2227=) c.2609G>C c.*6584G>C (n.*6584G>C) n.3175G>C c.6714G>C (p.Arg2238=) c.6726G>C (p.Arg2242=) c.6861G>C (p.Arg2287=) c.163-103G>C n.850G>C | gnomAD v4 |
| 17 | g.1650949C>T | CA286849721 | PRPF8 | c.6681G>A (p.Arg2227=) c.2609G>A c.*6584G>A (n.*6584G>A) n.3175G>A c.6714G>A (p.Arg2238=) c.6726G>A (p.Arg2242=) c.6861G>A (p.Arg2287=) c.163-103G>A n.850G>A | dbSNP gnomAD v4 |
| 17 | g.1650950C>A | CA397562612 | PRPF8 | c.6680G>T (p.Arg2227Leu) c.2608G>T c.*6583G>T (n.*6583G>T) n.3174G>T c.6713G>T (p.Arg2238Leu) c.6725G>T (p.Arg2242Leu) c.6860G>T (p.Arg2287Leu) c.163-104G>T n.849G>T | |
| 17 | g.1650950C= | CA2242977433 | PRPF8 | c.6680G= (p.Arg2227=) c.2608G= c.*6583G= (n.*6583G=) n.3174G= c.6713G= (p.Arg2238=) c.6725G= (p.Arg2242=) c.6860G= (p.Arg2287=) c.163-104G= n.849G= | |
| 17 | g.1650950C>G | CA397562615 | PRPF8 | c.6680G>C (p.Arg2227Pro) c.2608G>C c.*6583G>C (n.*6583G>C) n.3174G>C c.6713G>C (p.Arg2238Pro) c.6725G>C (p.Arg2242Pro) c.6860G>C (p.Arg2287Pro) c.163-104G>C n.849G>C | |
| 17 | g.1650950C>T | CA8271060 | PRPF8 | c.6680G>A (p.Arg2227Gln) c.2608G>A c.*6583G>A (n.*6583G>A) n.3174G>A c.6713G>A (p.Arg2238Gln) c.6725G>A (p.Arg2242Gln) c.6860G>A (p.Arg2287Gln) c.163-104G>A n.849G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1650951G>A | CA397562631 | PRPF8 | c.6679C>T (p.Arg2227Trp) c.2607C>T c.*6582C>T (n.*6582C>T) n.3173C>T c.6712C>T (p.Arg2238Trp) c.6724C>T (p.Arg2242Trp) c.6859C>T (p.Arg2287Trp) c.163-105C>T n.848C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.1650951G>C | CA397562618 | PRPF8 | c.6679C>G (p.Arg2227Gly) c.2607C>G c.*6582C>G (n.*6582C>G) n.3173C>G c.6712C>G (p.Arg2238Gly) c.6724C>G (p.Arg2242Gly) c.6859C>G (p.Arg2287Gly) c.163-105C>G n.848C>G | |
| 17 | g.1650951G= | CA2242977436 | PRPF8 | c.6679C= (p.Arg2227=) c.2607C= c.*6582C= (n.*6582C=) n.3173C= c.6712C= (p.Arg2238=) c.6724C= (p.Arg2242=) c.6859C= (p.Arg2287=) c.163-105C= n.848C= | |
| 17 | g.1650951G>T | CA497291913 | PRPF8 | c.6679C>A (p.Arg2227=) c.2607C>A c.*6582C>A (n.*6582C>A) n.3173C>A c.6712C>A (p.Arg2238=) c.6724C>A (p.Arg2242=) c.6859C>A (p.Arg2287=) c.163-105C>A n.848C>A | gnomAD v4 |
| 17 | g.1650951_1650952del | CA2808190796 | PRPF8 | c.6678_6679del (p.Arg2227AlafsTer2) c.2606_2607del c.*6581_*6582del (n.*6581_*6582del) n.3172_3173del c.6711_6712del (p.Arg2238AlafsTer2) c.6723_6724del (p.Arg2242AlafsTer2) c.6858_6859del (p.Arg2287AlafsTer2) c.163-106_163-105del n.847_848del | |
| 17 | g.1650952A>C | CA497291914 | PRPF8 | c.6678T>G (p.Val2226=) c.2606T>G c.*6581T>G (n.*6581T>G) n.3172T>G c.6711T>G (p.Val2237=) c.6723T>G (p.Val2241=) c.6858T>G (p.Val2286=) c.163-106T>G n.847T>G | |
| 17 | g.1650952A>G | CA497291916 | PRPF8 | c.6678T>C (p.Val2226=) c.2606T>C c.*6581T>C (n.*6581T>C) n.3172T>C c.6711T>C (p.Val2237=) c.6723T>C (p.Val2241=) c.6858T>C (p.Val2286=) c.163-106T>C n.847T>C | |
| 17 | g.1650952A>T | CA497291918 | PRPF8 | c.6678T>A (p.Val2226=) c.2606T>A c.*6581T>A (n.*6581T>A) n.3172T>A c.6711T>A (p.Val2237=) c.6723T>A (p.Val2241=) c.6858T>A (p.Val2286=) c.163-106T>A n.847T>A | |
| 17 | g.1650953A>C | CA397562634 | PRPF8 | c.6677T>G (p.Val2226Gly) c.2605T>G c.*6580T>G (n.*6580T>G) n.3171T>G c.6710T>G (p.Val2237Gly) c.6722T>G (p.Val2241Gly) c.6857T>G (p.Val2286Gly) c.163-107T>G n.846T>G | |
| 17 | g.1650953A>G | CA397562636 | PRPF8 | c.6677T>C (p.Val2226Ala) c.2605T>C c.*6580T>C (n.*6580T>C) n.3171T>C c.6710T>C (p.Val2237Ala) c.6722T>C (p.Val2241Ala) c.6857T>C (p.Val2286Ala) c.163-107T>C n.846T>C | |
| 17 | g.1650953A>T | CA397562640 | PRPF8 | c.6677T>A (p.Val2226Asp) c.2605T>A c.*6580T>A (n.*6580T>A) n.3171T>A c.6710T>A (p.Val2237Asp) c.6722T>A (p.Val2241Asp) c.6857T>A (p.Val2286Asp) c.163-107T>A n.846T>A | |
| 17 | g.1650953_1650954insGT | CA2808190797 | PRPF8 | c.6676_6677insAC (p.Val2226AspfsTer8) c.2604_2605insAC c.*6579_*6580insAC (n.*6579_*6580insAC) n.3170_3171insAC c.6709_6710insAC (p.Val2237AspfsTer8) c.6721_6722insAC (p.Val2241AspfsTer8) c.6856_6857insAC (p.Val2286AspfsTer8) c.163-108_163-107insAC n.845_846insAC | |
| 17 | g.1650954C>A | CA397562641 | PRPF8 | c.6676G>T (p.Val2226Phe) c.2604G>T c.*6579G>T (n.*6579G>T) n.3170G>T c.6709G>T (p.Val2237Phe) c.6721G>T (p.Val2241Phe) c.6856G>T (p.Val2286Phe) c.163-108G>T n.845G>T | |
| 17 | g.1650954C>G | CA397562643 | PRPF8 | c.6676G>C (p.Val2226Leu) c.2604G>C c.*6579G>C (n.*6579G>C) n.3170G>C c.6709G>C (p.Val2237Leu) c.6721G>C (p.Val2241Leu) c.6856G>C (p.Val2286Leu) c.163-108G>C n.845G>C | |
| 17 | g.1650954C>T | CA397562644 | PRPF8 | c.6676G>A (p.Val2226Ile) c.2604G>A c.*6579G>A (n.*6579G>A) n.3170G>A c.6709G>A (p.Val2237Ile) c.6721G>A (p.Val2241Ile) c.6856G>A (p.Val2286Ile) c.163-108G>A n.845G>A | |
| 17 | g.1650955A>C | CA497291928 | PRPF8 | c.6675T>G (p.Gly2225=) c.2603T>G c.*6578T>G (n.*6578T>G) n.3169T>G c.6708T>G (p.Gly2236=) c.6720T>G (p.Gly2240=) c.6855T>G (p.Gly2285=) c.163-109T>G n.844T>G | |
| 17 | g.1650955A>G | CA497291937 | PRPF8 | c.6675T>C (p.Gly2225=) c.2603T>C c.*6578T>C (n.*6578T>C) n.3169T>C c.6708T>C (p.Gly2236=) c.6720T>C (p.Gly2240=) c.6855T>C (p.Gly2285=) c.163-109T>C n.844T>C | |
| 17 | g.1650955A>T | CA497291940 | PRPF8 | c.6675T>A (p.Gly2225=) c.2603T>A c.*6578T>A (n.*6578T>A) n.3169T>A c.6708T>A (p.Gly2236=) c.6720T>A (p.Gly2240=) c.6855T>A (p.Gly2285=) c.163-109T>A n.844T>A | |
| 17 | g.1650956C>A | CA397562645 | PRPF8 | c.6674G>T (p.Gly2225Val) c.2602G>T c.*6577G>T (n.*6577G>T) n.3168G>T c.6707G>T (p.Gly2236Val) c.6719G>T (p.Gly2240Val) c.6854G>T (p.Gly2285Val) c.163-110G>T n.843G>T | |
| 17 | g.1650956C= | CA2242977439 | PRPF8 | c.6674G= (p.Gly2225=) c.2602G= c.*6577G= (n.*6577G=) n.3168G= c.6707G= (p.Gly2236=) c.6719G= (p.Gly2240=) c.6854G= (p.Gly2285=) c.163-110G= n.843G= | |
| 17 | g.1650956C>G | CA8271061 | PRPF8 | c.6674G>C (p.Gly2225Ala) c.2602G>C c.*6577G>C (n.*6577G>C) n.3168G>C c.6707G>C (p.Gly2236Ala) c.6719G>C (p.Gly2240Ala) c.6854G>C (p.Gly2285Ala) c.163-110G>C n.843G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650956C>T | CA397562650 | PRPF8 | c.6674G>A (p.Gly2225Asp) c.2602G>A c.*6577G>A (n.*6577G>A) n.3168G>A c.6707G>A (p.Gly2236Asp) c.6719G>A (p.Gly2240Asp) c.6854G>A (p.Gly2285Asp) c.163-110G>A n.843G>A |