| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 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 |