Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.1651070T>C | CA980674651 | PRPF8 | c.6673+38A>G (n.6673+38A>G) c.2601+38A>G c.*6576+38A>G (n.*6576+38A>G) n.3167+38A>G c.6706+38A>G (n.6706+38A>G) c.6718+38A>G (n.6718+38A>G) c.6853+38A>G (n.6853+38A>G) c.162+38A>G n.842+38A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.1651070T= | CA2242977594 | PRPF8 | c.6673+38A= (n.6673+38A=) c.2601+38A= c.*6576+38A= (n.*6576+38A=) n.3167+38A= c.6706+38A= (n.6706+38A=) c.6718+38A= (n.6718+38A=) c.6853+38A= (n.6853+38A=) c.162+38A= n.842+38A= | |
17 | g.1651071A>G | CA2635248940 | PRPF8 | c.6673+37T>C (n.6673+37T>C) c.2601+37T>C c.*6576+37T>C (n.*6576+37T>C) n.3167+37T>C c.6706+37T>C (n.6706+37T>C) c.6718+37T>C (n.6718+37T>C) c.6853+37T>C (n.6853+37T>C) c.162+37T>C n.842+37T>C | gnomAD v4 |
17 | g.1651073T>C | CA624564341 | PRPF8 | c.6673+35A>G (n.6673+35A>G) c.2601+35A>G c.*6576+35A>G (n.*6576+35A>G) n.3167+35A>G c.6706+35A>G (n.6706+35A>G) c.6718+35A>G (n.6718+35A>G) c.6853+35A>G (n.6853+35A>G) c.162+35A>G n.842+35A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1651073T= | CA2242977595 | PRPF8 | c.6673+35A= (n.6673+35A=) c.2601+35A= c.*6576+35A= (n.*6576+35A=) n.3167+35A= c.6706+35A= (n.6706+35A=) c.6718+35A= (n.6718+35A=) c.6853+35A= (n.6853+35A=) c.162+35A= n.842+35A= | |
17 | g.1651076T>C | CA2635248943 | PRPF8 | c.6673+32A>G (n.6673+32A>G) c.2601+32A>G c.*6576+32A>G (n.*6576+32A>G) n.3167+32A>G c.6706+32A>G (n.6706+32A>G) c.6718+32A>G (n.6718+32A>G) c.6853+32A>G (n.6853+32A>G) c.162+32A>G n.842+32A>G | gnomAD v4 |
17 | g.1651078T>C | CA8271083 | PRPF8 | c.6673+30A>G (n.6673+30A>G) c.2601+30A>G c.*6576+30A>G (n.*6576+30A>G) n.3167+30A>G c.6706+30A>G (n.6706+30A>G) c.6718+30A>G (n.6718+30A>G) c.6853+30A>G (n.6853+30A>G) c.162+30A>G n.842+30A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1651078T>G | CA624564342 | PRPF8 | c.6673+30A>C (n.6673+30A>C) c.2601+30A>C c.*6576+30A>C (n.*6576+30A>C) n.3167+30A>C c.6706+30A>C (n.6706+30A>C) c.6718+30A>C (n.6718+30A>C) c.6853+30A>C (n.6853+30A>C) c.162+30A>C n.842+30A>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.1651078T= | CA2242977597 | PRPF8 | c.6673+30A= (n.6673+30A=) c.2601+30A= c.*6576+30A= (n.*6576+30A=) n.3167+30A= c.6706+30A= (n.6706+30A=) c.6718+30A= (n.6718+30A=) c.6853+30A= (n.6853+30A=) c.162+30A= n.842+30A= | |
17 | g.1651079C= | CA2242977601 | PRPF8 | c.6673+29G= (n.6673+29G=) c.2601+29G= c.*6576+29G= (n.*6576+29G=) n.3167+29G= c.6706+29G= (n.6706+29G=) c.6718+29G= (n.6718+29G=) c.6853+29G= (n.6853+29G=) c.162+29G= n.842+29G= | |
17 | g.1651079C>G | CA624564343 | PRPF8 | c.6673+29G>C (n.6673+29G>C) c.2601+29G>C c.*6576+29G>C (n.*6576+29G>C) n.3167+29G>C c.6706+29G>C (n.6706+29G>C) c.6718+29G>C (n.6718+29G>C) c.6853+29G>C (n.6853+29G>C) c.162+29G>C n.842+29G>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.1651079C>T | CA2635248947 | PRPF8 | c.6673+29G>A (n.6673+29G>A) c.2601+29G>A c.*6576+29G>A (n.*6576+29G>A) n.3167+29G>A c.6706+29G>A (n.6706+29G>A) c.6718+29G>A (n.6718+29G>A) c.6853+29G>A (n.6853+29G>A) c.162+29G>A n.842+29G>A | gnomAD v4 |
17 | g.1651080C= | CA2242977603 | PRPF8 | c.6673+28G= (n.6673+28G=) c.2601+28G= c.*6576+28G= (n.*6576+28G=) n.3167+28G= c.6706+28G= (n.6706+28G=) c.6718+28G= (n.6718+28G=) c.6853+28G= (n.6853+28G=) c.162+28G= n.842+28G= | |
17 | g.1651080C>T | CA624564344 | PRPF8 | c.6673+28G>A (n.6673+28G>A) c.2601+28G>A c.*6576+28G>A (n.*6576+28G>A) n.3167+28G>A c.6706+28G>A (n.6706+28G>A) c.6718+28G>A (n.6718+28G>A) c.6853+28G>A (n.6853+28G>A) c.162+28G>A n.842+28G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1651082C>A | CA2576113156 | PRPF8 | c.6673+26G>T (n.6673+26G>T) c.2601+26G>T c.*6576+26G>T (n.*6576+26G>T) n.3167+26G>T c.6706+26G>T (n.6706+26G>T) c.6718+26G>T (n.6718+26G>T) c.6853+26G>T (n.6853+26G>T) c.162+26G>T n.842+26G>T | |
17 | g.1651082C= | CA2242977605 | PRPF8 | c.6673+26G= (n.6673+26G=) c.2601+26G= c.*6576+26G= (n.*6576+26G=) n.3167+26G= c.6706+26G= (n.6706+26G=) c.6718+26G= (n.6718+26G=) c.6853+26G= (n.6853+26G=) c.162+26G= n.842+26G= | |
17 | g.1651082C>T | CA8271084 | PRPF8 | c.6673+26G>A (n.6673+26G>A) c.2601+26G>A c.*6576+26G>A (n.*6576+26G>A) n.3167+26G>A c.6706+26G>A (n.6706+26G>A) c.6718+26G>A (n.6718+26G>A) c.6853+26G>A (n.6853+26G>A) c.162+26G>A n.842+26G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1651085A>G | CA2576113157 | PRPF8 | c.6673+23T>C (n.6673+23T>C) c.2601+23T>C c.*6576+23T>C (n.*6576+23T>C) n.3167+23T>C c.6706+23T>C (n.6706+23T>C) c.6718+23T>C (n.6718+23T>C) c.6853+23T>C (n.6853+23T>C) c.162+23T>C n.842+23T>C | gnomAD v4 |
17 | g.1651085A>T | CA2635248951 | PRPF8 | c.6673+23T>A (n.6673+23T>A) c.2601+23T>A c.*6576+23T>A (n.*6576+23T>A) n.3167+23T>A c.6706+23T>A (n.6706+23T>A) c.6718+23T>A (n.6718+23T>A) c.6853+23T>A (n.6853+23T>A) c.162+23T>A n.842+23T>A | gnomAD v4 |
17 | g.1651086T>A | CA8271085 | PRPF8 | c.6673+22A>T (n.6673+22A>T) c.2601+22A>T c.*6576+22A>T (n.*6576+22A>T) n.3167+22A>T c.6706+22A>T (n.6706+22A>T) c.6718+22A>T (n.6718+22A>T) c.6853+22A>T (n.6853+22A>T) c.162+22A>T n.842+22A>T | dbSNP ExAC gnomAD v2 |
17 | g.1651086T= | CA2242977608 | PRPF8 | c.6673+22A= (n.6673+22A=) c.2601+22A= c.*6576+22A= (n.*6576+22A=) n.3167+22A= c.6706+22A= (n.6706+22A=) c.6718+22A= (n.6718+22A=) c.6853+22A= (n.6853+22A=) c.162+22A= n.842+22A= | |
17 | g.1651087C= | CA2242977610 | PRPF8 | c.6673+21G= (n.6673+21G=) c.2601+21G= c.*6576+21G= (n.*6576+21G=) n.3167+21G= c.6706+21G= (n.6706+21G=) c.6718+21G= (n.6718+21G=) c.6853+21G= (n.6853+21G=) c.162+21G= n.842+21G= | |
17 | g.1651087C>T | CA2242977611 | PRPF8 | c.6673+21G>A (n.6673+21G>A) c.2601+21G>A c.*6576+21G>A (n.*6576+21G>A) n.3167+21G>A c.6706+21G>A (n.6706+21G>A) c.6718+21G>A (n.6718+21G>A) c.6853+21G>A (n.6853+21G>A) c.162+21G>A n.842+21G>A | dbSNP gnomAD v4 |
17 | g.1651089C= | CA2242977613 | PRPF8 | c.6673+19G= (n.6673+19G=) c.2601+19G= c.*6576+19G= (n.*6576+19G=) n.3167+19G= c.6706+19G= (n.6706+19G=) c.6718+19G= (n.6718+19G=) c.6853+19G= (n.6853+19G=) c.162+19G= n.842+19G= | |
17 | g.1651089C>T | CA624564345 | PRPF8 | c.6673+19G>A (n.6673+19G>A) c.2601+19G>A c.*6576+19G>A (n.*6576+19G>A) n.3167+19G>A c.6706+19G>A (n.6706+19G>A) c.6718+19G>A (n.6718+19G>A) c.6853+19G>A (n.6853+19G>A) c.162+19G>A n.842+19G>A | dbSNP gnomAD v2 |
17 | g.1651090C= | CA2242977616 | PRPF8 | c.6673+18G= (n.6673+18G=) c.2601+18G= c.*6576+18G= (n.*6576+18G=) n.3167+18G= c.6706+18G= (n.6706+18G=) c.6718+18G= (n.6718+18G=) c.6853+18G= (n.6853+18G=) c.162+18G= n.842+18G= | |
17 | g.1651090C>G | CA8271086 | PRPF8 | c.6673+18G>C (n.6673+18G>C) c.2601+18G>C c.*6576+18G>C (n.*6576+18G>C) n.3167+18G>C c.6706+18G>C (n.6706+18G>C) c.6718+18G>C (n.6718+18G>C) c.6853+18G>C (n.6853+18G>C) c.162+18G>C n.842+18G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1651091A>G | CA2635248962 | PRPF8 | c.6673+17T>C (n.6673+17T>C) c.2601+17T>C c.*6576+17T>C (n.*6576+17T>C) n.3167+17T>C c.6706+17T>C (n.6706+17T>C) c.6718+17T>C (n.6718+17T>C) c.6853+17T>C (n.6853+17T>C) c.162+17T>C n.842+17T>C | gnomAD v4 |
17 | g.1651092G>A | CA2635248963 | PRPF8 | c.6673+16C>T (n.6673+16C>T) c.2601+16C>T c.*6576+16C>T (n.*6576+16C>T) n.3167+16C>T c.6706+16C>T (n.6706+16C>T) c.6718+16C>T (n.6718+16C>T) c.6853+16C>T (n.6853+16C>T) c.162+16C>T n.842+16C>T | gnomAD v4 |
17 | g.1651092G>C | CA2509498194 | PRPF8 | c.6673+16C>G (n.6673+16C>G) c.2601+16C>G c.*6576+16C>G (n.*6576+16C>G) n.3167+16C>G c.6706+16C>G (n.6706+16C>G) c.6718+16C>G (n.6718+16C>G) c.6853+16C>G (n.6853+16C>G) c.162+16C>G n.842+16C>G | |
17 | g.1651092G>T | CA2576113158 | PRPF8 | c.6673+16C>A (n.6673+16C>A) c.2601+16C>A c.*6576+16C>A (n.*6576+16C>A) n.3167+16C>A c.6706+16C>A (n.6706+16C>A) c.6718+16C>A (n.6718+16C>A) c.6853+16C>A (n.6853+16C>A) c.162+16C>A n.842+16C>A | |
17 | g.1651093G>A | CA2242977620 | PRPF8 | c.6673+15C>T (n.6673+15C>T) c.2601+15C>T c.*6576+15C>T (n.*6576+15C>T) n.3167+15C>T c.6706+15C>T (n.6706+15C>T) c.6718+15C>T (n.6718+15C>T) c.6853+15C>T (n.6853+15C>T) c.162+15C>T n.842+15C>T | dbSNP |
17 | g.1651093G>C | CA2576113159 | PRPF8 | c.6673+15C>G (n.6673+15C>G) c.2601+15C>G c.*6576+15C>G (n.*6576+15C>G) n.3167+15C>G c.6706+15C>G (n.6706+15C>G) c.6718+15C>G (n.6718+15C>G) c.6853+15C>G (n.6853+15C>G) c.162+15C>G n.842+15C>G | |
17 | g.1651093G= | CA2242977619 | PRPF8 | c.6673+15C= (n.6673+15C=) c.2601+15C= c.*6576+15C= (n.*6576+15C=) n.3167+15C= c.6706+15C= (n.6706+15C=) c.6718+15C= (n.6718+15C=) c.6853+15C= (n.6853+15C=) c.162+15C= n.842+15C= | |
17 | g.1651094C>A | CA2242977621 | PRPF8 | c.6673+14G>T (n.6673+14G>T) c.2601+14G>T c.*6576+14G>T (n.*6576+14G>T) n.3167+14G>T c.6706+14G>T (n.6706+14G>T) c.6718+14G>T (n.6718+14G>T) c.6853+14G>T (n.6853+14G>T) c.162+14G>T n.842+14G>T | dbSNP |
17 | g.1651094C= | CA2242977622 | PRPF8 | c.6673+14G= (n.6673+14G=) c.2601+14G= c.*6576+14G= (n.*6576+14G=) n.3167+14G= c.6706+14G= (n.6706+14G=) c.6718+14G= (n.6718+14G=) c.6853+14G= (n.6853+14G=) c.162+14G= n.842+14G= | |
17 | g.1651096C= | CA2242977623 | PRPF8 | c.6673+12G= (n.6673+12G=) c.2601+12G= c.*6576+12G= (n.*6576+12G=) n.3167+12G= c.6706+12G= (n.6706+12G=) c.6718+12G= (n.6718+12G=) c.6853+12G= (n.6853+12G=) c.162+12G= n.842+12G= | |
17 | g.1651096C>T | CA8271087 | PRPF8 | c.6673+12G>A (n.6673+12G>A) c.2601+12G>A c.*6576+12G>A (n.*6576+12G>A) n.3167+12G>A c.6706+12G>A (n.6706+12G>A) c.6718+12G>A (n.6718+12G>A) c.6853+12G>A (n.6853+12G>A) c.162+12G>A n.842+12G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1651097C= | CA2242977626 | PRPF8 | c.6673+11G= (n.6673+11G=) c.2601+11G= c.*6576+11G= (n.*6576+11G=) n.3167+11G= c.6706+11G= (n.6706+11G=) c.6718+11G= (n.6718+11G=) c.6853+11G= (n.6853+11G=) c.162+11G= n.842+11G= | |
17 | g.1651097C>T | CA2242977627 | PRPF8 | c.6673+11G>A (n.6673+11G>A) c.2601+11G>A c.*6576+11G>A (n.*6576+11G>A) n.3167+11G>A c.6706+11G>A (n.6706+11G>A) c.6718+11G>A (n.6718+11G>A) c.6853+11G>A (n.6853+11G>A) c.162+11G>A n.842+11G>A | dbSNP |
17 | g.1651099C>T | CA2635248965 | PRPF8 | c.6673+9G>A (n.6673+9G>A) c.2601+9G>A c.*6576+9G>A (n.*6576+9G>A) n.3167+9G>A c.6706+9G>A (n.6706+9G>A) c.6718+9G>A (n.6718+9G>A) c.6853+9G>A (n.6853+9G>A) c.162+9G>A n.842+9G>A | gnomAD v4 |
17 | g.1651100C= | CA2242977628 | PRPF8 | c.6673+8G= (n.6673+8G=) c.2601+8G= c.*6576+8G= (n.*6576+8G=) n.3167+8G= c.6706+8G= (n.6706+8G=) c.6718+8G= (n.6718+8G=) c.6853+8G= (n.6853+8G=) c.162+8G= n.842+8G= | |
17 | g.1651100C>T | CA980674668 | PRPF8 | c.6673+8G>A (n.6673+8G>A) c.2601+8G>A c.*6576+8G>A (n.*6576+8G>A) n.3167+8G>A c.6706+8G>A (n.6706+8G>A) c.6718+8G>A (n.6718+8G>A) c.6853+8G>A (n.6853+8G>A) c.162+8G>A n.842+8G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.1651102A>G | CA2635248967 | PRPF8 | c.6673+6T>C (n.6673+6T>C) c.2601+6T>C c.*6576+6T>C (n.*6576+6T>C) n.3167+6T>C c.6706+6T>C (n.6706+6T>C) c.6718+6T>C (n.6718+6T>C) c.6853+6T>C (n.6853+6T>C) c.162+6T>C n.842+6T>C | gnomAD v4 |
17 | g.1651103del | CA2635248968 | PRPF8 | c.6673+5del (n.6673+5del) c.2601+5del c.*6576+5del (n.*6576+5del) n.3167+5del c.6706+5del (n.6706+5del) c.6718+5del (n.6718+5del) c.6853+5del (n.6853+5del) c.162+5del n.842+5del | gnomAD v4 |
17 | g.1651105T>G | CA2697556106 | PRPF8 | c.6673+3A>C (n.6673+3A>C) c.2601+3A>C c.*6576+3A>C (n.*6576+3A>C) n.3167+3A>C c.6706+3A>C (n.6706+3A>C) c.6718+3A>C (n.6718+3A>C) c.6853+3A>C (n.6853+3A>C) c.162+3A>C n.842+3A>C | ClinVar |
17 | g.1651106A>C | CA397563558 | PRPF8 | c.6673+2T>G (n.6673+2T>G) c.2601+2T>G c.*6576+2T>G (n.*6576+2T>G) n.3167+2T>G c.6706+2T>G (n.6706+2T>G) c.6718+2T>G (n.6718+2T>G) c.6853+2T>G (n.6853+2T>G) c.162+2T>G n.842+2T>G | |
17 | g.1651106A>G | CA397563559 | PRPF8 | c.6673+2T>C (n.6673+2T>C) c.2601+2T>C c.*6576+2T>C (n.*6576+2T>C) n.3167+2T>C c.6706+2T>C (n.6706+2T>C) c.6718+2T>C (n.6718+2T>C) c.6853+2T>C (n.6853+2T>C) c.162+2T>C n.842+2T>C | |
17 | g.1651106A>T | CA397563560 | PRPF8 | c.6673+2T>A (n.6673+2T>A) c.2601+2T>A c.*6576+2T>A (n.*6576+2T>A) n.3167+2T>A c.6706+2T>A (n.6706+2T>A) c.6718+2T>A (n.6718+2T>A) c.6853+2T>A (n.6853+2T>A) c.162+2T>A n.842+2T>A | |
17 | g.1651106dup | CA2635248973 | PRPF8 | c.6673+2dup (n.6673+2dup) c.2601+2dup c.*6576+2dup (n.*6576+2dup) n.3167+2dup c.6706+2dup (n.6706+2dup) c.6718+2dup (n.6718+2dup) c.6853+2dup (n.6853+2dup) c.162+2dup n.842+2dup | gnomAD v4 |
17 | g.1651107C>A | CA397563561 | PRPF8 | c.6673+1G>T (n.6673+1G>T) c.2601+1G>T c.*6576+1G>T (n.*6576+1G>T) n.3167+1G>T c.6706+1G>T (n.6706+1G>T) c.6718+1G>T (n.6718+1G>T) c.6853+1G>T (n.6853+1G>T) c.162+1G>T n.842+1G>T | dbSNP |
17 | g.1651107C= | CA2242977630 | PRPF8 | c.6673+1G= (n.6673+1G=) c.2601+1G= c.*6576+1G= (n.*6576+1G=) n.3167+1G= c.6706+1G= (n.6706+1G=) c.6718+1G= (n.6718+1G=) c.6853+1G= (n.6853+1G=) c.162+1G= n.842+1G= | |
17 | g.1651107C>G | CA397563563 | PRPF8 | c.6673+1G>C (n.6673+1G>C) c.2601+1G>C c.*6576+1G>C (n.*6576+1G>C) n.3167+1G>C c.6706+1G>C (n.6706+1G>C) c.6718+1G>C (n.6718+1G>C) c.6853+1G>C (n.6853+1G>C) c.162+1G>C n.842+1G>C | |
17 | g.1651107C>T | CA397563564 | PRPF8 | c.6673+1G>A (n.6673+1G>A) c.2601+1G>A c.*6576+1G>A (n.*6576+1G>A) n.3167+1G>A c.6706+1G>A (n.6706+1G>A) c.6718+1G>A (n.6718+1G>A) c.6853+1G>A (n.6853+1G>A) c.162+1G>A n.842+1G>A | |
17 | g.1651108C>A | CA397563566 | PRPF8 | c.6673G>T (p.Gly2225Cys) c.2601G>T c.*6576G>T (n.*6576G>T) n.3167G>T c.6706G>T (p.Gly2236Cys) c.6718G>T (p.Gly2240Cys) c.6853G>T (p.Gly2285Cys) c.162G>T n.842G>T | |
17 | g.1651108C>G | CA397563568 | PRPF8 | c.6673G>C (p.Gly2225Arg) c.2601G>C c.*6576G>C (n.*6576G>C) n.3167G>C c.6706G>C (p.Gly2236Arg) c.6718G>C (p.Gly2240Arg) c.6853G>C (p.Gly2285Arg) c.162G>C n.842G>C | |
17 | g.1651108C>T | CA397563569 | PRPF8 | c.6673G>A (p.Gly2225Ser) c.2601G>A c.*6576G>A (n.*6576G>A) n.3167G>A c.6706G>A (p.Gly2236Ser) c.6718G>A (p.Gly2240Ser) c.6853G>A (p.Gly2285Ser) c.162G>A n.842G>A | gnomAD v4 |
17 | g.1651109C>A | CA397563571 | PRPF8 | c.6672G>T (p.Met2224Ile) c.2600G>T c.*6575G>T (n.*6575G>T) n.3166G>T c.6705G>T (p.Met2235Ile) c.6717G>T (p.Met2239Ile) c.6852G>T (p.Met2284Ile) c.161G>T n.841G>T | |
17 | g.1651109C>G | CA397563573 | PRPF8 | c.6672G>C (p.Met2224Ile) c.2600G>C c.*6575G>C (n.*6575G>C) n.3166G>C c.6705G>C (p.Met2235Ile) c.6717G>C (p.Met2239Ile) c.6852G>C (p.Met2284Ile) c.161G>C n.841G>C | |
17 | g.1651109C>T | CA397563574 | PRPF8 | c.6672G>A (p.Met2224Ile) c.2600G>A c.*6575G>A (n.*6575G>A) n.3166G>A c.6705G>A (p.Met2235Ile) c.6717G>A (p.Met2239Ile) c.6852G>A (p.Met2284Ile) c.161G>A n.841G>A | ClinVar |
17 | g.1651110A>C | CA397563576 | PRPF8 | c.6671T>G (p.Met2224Arg) c.2599T>G c.*6574T>G (n.*6574T>G) n.3165T>G c.6704T>G (p.Met2235Arg) c.6716T>G (p.Met2239Arg) c.6851T>G (p.Met2284Arg) c.160T>G n.840T>G | |
17 | g.1651110A>G | CA397563578 | PRPF8 | c.6671T>C (p.Met2224Thr) c.2599T>C c.*6574T>C (n.*6574T>C) n.3165T>C c.6704T>C (p.Met2235Thr) c.6716T>C (p.Met2239Thr) c.6851T>C (p.Met2284Thr) c.160T>C n.840T>C | gnomAD v4 |
17 | g.1651110A>T | CA397563577 | PRPF8 | c.6671T>A (p.Met2224Lys) c.2599T>A c.*6574T>A (n.*6574T>A) n.3165T>A c.6704T>A (p.Met2235Lys) c.6716T>A (p.Met2239Lys) c.6851T>A (p.Met2284Lys) c.160T>A n.840T>A | |
17 | g.1651111T>A | CA397563581 | PRPF8 | c.6670A>T (p.Met2224Leu) c.2598A>T c.*6573A>T (n.*6573A>T) n.3164A>T c.6703A>T (p.Met2235Leu) c.6715A>T (p.Met2239Leu) c.6850A>T (p.Met2284Leu) c.159A>T n.839A>T | |
17 | g.1651111T>C | CA397563583 | PRPF8 | c.6670A>G (p.Met2224Val) c.2598A>G c.*6573A>G (n.*6573A>G) n.3164A>G c.6703A>G (p.Met2235Val) c.6715A>G (p.Met2239Val) c.6850A>G (p.Met2284Val) c.159A>G n.839A>G | |
17 | g.1651111T>G | CA397563582 | PRPF8 | c.6670A>C (p.Met2224Leu) c.2598A>C c.*6573A>C (n.*6573A>C) n.3164A>C c.6703A>C (p.Met2235Leu) c.6715A>C (p.Met2239Leu) c.6850A>C (p.Met2284Leu) c.159A>C n.839A>C | |
17 | g.1651112G>A | CA497388855 | PRPF8 | c.6669C>T (p.Phe2223=) c.2597C>T c.*6572C>T (n.*6572C>T) n.3163C>T c.6702C>T (p.Phe2234=) c.6714C>T (p.Phe2238=) c.6849C>T (p.Phe2283=) c.158C>T n.838C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.1651112G>C | CA397563585 | PRPF8 | c.6669C>G (p.Phe2223Leu) c.2597C>G c.*6572C>G (n.*6572C>G) n.3163C>G c.6702C>G (p.Phe2234Leu) c.6714C>G (p.Phe2238Leu) c.6849C>G (p.Phe2283Leu) c.158C>G n.838C>G | |
17 | g.1651112G= | CA2242977634 | PRPF8 | c.6669C= (p.Phe2223=) c.2597C= c.*6572C= (n.*6572C=) n.3163C= c.6702C= (p.Phe2234=) c.6714C= (p.Phe2238=) c.6849C= (p.Phe2283=) c.158C= n.838C= | |
17 | g.1651112G>T | CA397563586 | PRPF8 | c.6669C>A (p.Phe2223Leu) c.2597C>A c.*6572C>A (n.*6572C>A) n.3163C>A c.6702C>A (p.Phe2234Leu) c.6714C>A (p.Phe2238Leu) c.6849C>A (p.Phe2283Leu) c.158C>A n.838C>A | |
17 | g.1651113A>C | CA397563588 | PRPF8 | c.6668T>G (p.Phe2223Cys) c.2596T>G c.*6571T>G (n.*6571T>G) n.3162T>G c.6701T>G (p.Phe2234Cys) c.6713T>G (p.Phe2238Cys) c.6848T>G (p.Phe2283Cys) c.157T>G n.837T>G | |
17 | g.1651113A>G | CA397563591 | PRPF8 | c.6668T>C (p.Phe2223Ser) c.2596T>C c.*6571T>C (n.*6571T>C) n.3162T>C c.6701T>C (p.Phe2234Ser) c.6713T>C (p.Phe2238Ser) c.6848T>C (p.Phe2283Ser) c.157T>C n.837T>C | |
17 | g.1651113A>T | CA397563590 | PRPF8 | c.6668T>A (p.Phe2223Tyr) c.2596T>A c.*6571T>A (n.*6571T>A) n.3162T>A c.6701T>A (p.Phe2234Tyr) c.6713T>A (p.Phe2238Tyr) c.6848T>A (p.Phe2283Tyr) c.157T>A n.837T>A | |
17 | g.1651114A>C | CA397563593 | PRPF8 | c.6667T>G (p.Phe2223Val) c.2595T>G c.*6570T>G (n.*6570T>G) n.3161T>G c.6700T>G (p.Phe2234Val) c.6712T>G (p.Phe2238Val) c.6847T>G (p.Phe2283Val) c.156T>G n.836T>G | |
17 | g.1651114A>G | CA397563596 | PRPF8 | c.6667T>C (p.Phe2223Leu) c.2595T>C c.*6570T>C (n.*6570T>C) n.3161T>C c.6700T>C (p.Phe2234Leu) c.6712T>C (p.Phe2238Leu) c.6847T>C (p.Phe2283Leu) c.156T>C n.836T>C | |
17 | g.1651114A>T | CA397563595 | PRPF8 | c.6667T>A (p.Phe2223Ile) c.2595T>A c.*6570T>A (n.*6570T>A) n.3161T>A c.6700T>A (p.Phe2234Ile) c.6712T>A (p.Phe2238Ile) c.6847T>A (p.Phe2283Ile) c.156T>A n.836T>A | |
17 | g.1651115G>A | CA497388856 | PRPF8 | c.6666C>T (p.Asn2222=) c.2594C>T c.*6569C>T (n.*6569C>T) n.3160C>T c.6699C>T (p.Asn2233=) c.6711C>T (p.Asn2237=) c.6846C>T (p.Asn2282=) c.155C>T n.835C>T | gnomAD v4 |
17 | g.1651115G>C | CA397563598 | PRPF8 | c.6666C>G (p.Asn2222Lys) c.2594C>G c.*6569C>G (n.*6569C>G) n.3160C>G c.6699C>G (p.Asn2233Lys) c.6711C>G (p.Asn2237Lys) c.6846C>G (p.Asn2282Lys) c.155C>G n.835C>G | |
17 | g.1651115G>T | CA397563599 | PRPF8 | c.6666C>A (p.Asn2222Lys) c.2594C>A c.*6569C>A (n.*6569C>A) n.3160C>A c.6699C>A (p.Asn2233Lys) c.6711C>A (p.Asn2237Lys) c.6846C>A (p.Asn2282Lys) c.155C>A n.835C>A | |
17 | g.1651116T>A | CA397563600 | PRPF8 | c.6665A>T (p.Asn2222Ile) c.2593A>T c.*6568A>T (n.*6568A>T) n.3159A>T c.6698A>T (p.Asn2233Ile) c.6710A>T (p.Asn2237Ile) c.6845A>T (p.Asn2282Ile) c.154A>T n.834A>T | |
17 | g.1651116T>C | CA397563601 | PRPF8 | c.6665A>G (p.Asn2222Ser) c.2593A>G c.*6568A>G (n.*6568A>G) n.3159A>G c.6698A>G (p.Asn2233Ser) c.6710A>G (p.Asn2237Ser) c.6845A>G (p.Asn2282Ser) c.154A>G n.834A>G | |
17 | g.1651116T>G | CA397563602 | PRPF8 | c.6665A>C (p.Asn2222Thr) c.2593A>C c.*6568A>C (n.*6568A>C) n.3159A>C c.6698A>C (p.Asn2233Thr) c.6710A>C (p.Asn2237Thr) c.6845A>C (p.Asn2282Thr) c.154A>C n.834A>C | |
17 | g.1651116_1651117insGGTGCCATCCTACGTTACCCCATGCGTTGAGGAACTCTCTT | CA2514343661 | PRPF8 | c.6665_6666insAGAGAGTTCCTCAACGCATGGGGTAACGTAGGATGGCACCA (p.Asn2222LysfsTer11) c.2593_2594insAGAGAGTTCCTCAACGCATGGGGTAACGTAGGATGGCACCA c.*6568_*6569insAGAGAGTTCCTCAACGCATGGGGTAACGTAGGATGGCACCA (n.*6568_*6569insAGAGAGTTCCTCAACGCATGGGGTAACGTAGGATGGCACCA) n.3159_3160insAGAGAGTTCCTCAACGCATGGGGTAACGTAGGATGGCACCA c.6698_6699insAGAGAGTTCCTCAACGCATGGGGTAACGTAGGATGGCACCA (p.Asn2233LysfsTer11) c.6710_6711insAGAGAGTTCCTCAACGCATGGGGTAACGTAGGATGGCACCA (p.Asn2237LysfsTer11) c.6845_6846insAGAGAGTTCCTCAACGCATGGGGTAACGTAGGATGGCACCA (p.Asn2282LysfsTer11) c.154_155insAGAGAGTTCCTCAACGCATGGGGTAACGTAGGATGGCACCA n.834_835insAGAGAGTTCCTCAACGCATGGGGTAACGTAGGATGGCACCA | |
17 | g.1651117T>A | CA397563604 | PRPF8 | c.6664A>T (p.Asn2222Tyr) c.2592A>T c.*6567A>T (n.*6567A>T) n.3158A>T c.6697A>T (p.Asn2233Tyr) c.6709A>T (p.Asn2237Tyr) c.6844A>T (p.Asn2282Tyr) c.153A>T n.833A>T | |
17 | g.1651117T>C | CA397563606 | PRPF8 | c.6664A>G (p.Asn2222Asp) c.2592A>G c.*6567A>G (n.*6567A>G) n.3158A>G c.6697A>G (p.Asn2233Asp) c.6709A>G (p.Asn2237Asp) c.6844A>G (p.Asn2282Asp) c.153A>G n.833A>G | |
17 | g.1651117T>G | CA397563607 | PRPF8 | c.6664A>C (p.Asn2222His) c.2592A>C c.*6567A>C (n.*6567A>C) n.3158A>C c.6697A>C (p.Asn2233His) c.6709A>C (p.Asn2237His) c.6844A>C (p.Asn2282His) c.153A>C n.833A>C | |
17 | g.1651118G>A | CA497388857 | PRPF8 | c.6663C>T (p.Tyr2221=) c.2591C>T c.*6566C>T (n.*6566C>T) n.3157C>T c.6696C>T (p.Tyr2232=) c.6708C>T (p.Tyr2236=) c.6843C>T (p.Tyr2281=) c.152C>T n.832C>T | dbSNP gnomAD v4 |
17 | g.1651118G>C | CA397563608 | PRPF8 | c.6663C>G (p.Tyr2221Ter) c.2591C>G c.*6566C>G (n.*6566C>G) n.3157C>G c.6696C>G (p.Tyr2232Ter) c.6708C>G (p.Tyr2236Ter) c.6843C>G (p.Tyr2281Ter) c.152C>G n.832C>G | |
17 | g.1651118G= | CA2242977637 | PRPF8 | c.6663C= (p.Tyr2221=) c.2591C= c.*6566C= (n.*6566C=) n.3157C= c.6696C= (p.Tyr2232=) c.6708C= (p.Tyr2236=) c.6843C= (p.Tyr2281=) c.152C= n.832C= | |
17 | g.1651118G>T | CA397563610 | PRPF8 | c.6663C>A (p.Tyr2221Ter) c.2591C>A c.*6566C>A (n.*6566C>A) n.3157C>A c.6696C>A (p.Tyr2232Ter) c.6708C>A (p.Tyr2236Ter) c.6843C>A (p.Tyr2281Ter) c.152C>A n.832C>A | |
17 | g.1651119T>A | CA397563611 | PRPF8 | c.6662A>T (p.Tyr2221Phe) c.2590A>T c.*6565A>T (n.*6565A>T) n.3156A>T c.6695A>T (p.Tyr2232Phe) c.6707A>T (p.Tyr2236Phe) c.6842A>T (p.Tyr2281Phe) c.151A>T n.831A>T | |
17 | g.1651119T>C | CA397563613 | PRPF8 | c.6662A>G (p.Tyr2221Cys) c.2590A>G c.*6565A>G (n.*6565A>G) n.3156A>G c.6695A>G (p.Tyr2232Cys) c.6707A>G (p.Tyr2236Cys) c.6842A>G (p.Tyr2281Cys) c.151A>G n.831A>G | gnomAD v4 |
17 | g.1651119T>G | CA397563614 | PRPF8 | c.6662A>C (p.Tyr2221Ser) c.2590A>C c.*6565A>C (n.*6565A>C) n.3156A>C c.6695A>C (p.Tyr2232Ser) c.6707A>C (p.Tyr2236Ser) c.6842A>C (p.Tyr2281Ser) c.151A>C n.831A>C | |
17 | g.1651120del | CA2548896204 | PRPF8 | c.6661del (p.Tyr2221ThrfsTer12) c.2589del c.*6564del (n.*6564del) n.3155del c.6694del (p.Tyr2232ThrfsTer12) c.6706del (p.Tyr2236ThrfsTer12) c.6841del (p.Tyr2281ThrfsTer12) c.150del n.830del | |
17 | g.1651120A>C | CA397563619 | PRPF8 | c.6661T>G (p.Tyr2221Asp) c.2589T>G c.*6564T>G (n.*6564T>G) n.3155T>G c.6694T>G (p.Tyr2232Asp) c.6706T>G (p.Tyr2236Asp) c.6841T>G (p.Tyr2281Asp) c.150T>G n.830T>G | |
17 | g.1651120A>G | CA397563616 | PRPF8 | c.6661T>C (p.Tyr2221His) c.2589T>C c.*6564T>C (n.*6564T>C) n.3155T>C c.6694T>C (p.Tyr2232His) c.6706T>C (p.Tyr2236His) c.6841T>C (p.Tyr2281His) c.150T>C n.830T>C | |
17 | g.1651120A>T | CA397563617 | PRPF8 | c.6661T>A (p.Tyr2221Asn) c.2589T>A c.*6564T>A (n.*6564T>A) n.3155T>A c.6694T>A (p.Tyr2232Asn) c.6706T>A (p.Tyr2236Asn) c.6841T>A (p.Tyr2281Asn) c.150T>A n.830T>A | |
17 | g.1651121G>A | CA8271088 | PRPF8 | c.6660C>T (p.Asn2220=) c.2588C>T c.*6563C>T (n.*6563C>T) n.3154C>T c.6693C>T (p.Asn2231=) c.6705C>T (p.Asn2235=) c.6840C>T (p.Asn2280=) c.149C>T n.829C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1651121G>C | CA397563621 | PRPF8 | c.6660C>G (p.Asn2220Lys) c.2588C>G c.*6563C>G (n.*6563C>G) n.3154C>G c.6693C>G (p.Asn2231Lys) c.6705C>G (p.Asn2235Lys) c.6840C>G (p.Asn2280Lys) c.149C>G n.829C>G | |
17 | g.1651121G= | CA2242977640 | PRPF8 | c.6660C= (p.Asn2220=) c.2588C= c.*6563C= (n.*6563C=) n.3154C= c.6693C= (p.Asn2231=) c.6705C= (p.Asn2235=) c.6840C= (p.Asn2280=) c.149C= n.829C= | |
17 | g.1651121G>T | CA397563622 | PRPF8 | c.6660C>A (p.Asn2220Lys) c.2588C>A c.*6563C>A (n.*6563C>A) n.3154C>A c.6693C>A (p.Asn2231Lys) c.6705C>A (p.Asn2235Lys) c.6840C>A (p.Asn2280Lys) c.149C>A n.829C>A | |
17 | g.1651122T>A | CA397563623 | PRPF8 | c.6659A>T (p.Asn2220Ile) c.2587A>T c.*6562A>T (n.*6562A>T) n.3153A>T c.6692A>T (p.Asn2231Ile) c.6704A>T (p.Asn2235Ile) c.6839A>T (p.Asn2280Ile) c.148A>T n.828A>T | |
17 | g.1651122T>C | CA397563624 | PRPF8 | c.6659A>G (p.Asn2220Ser) c.2587A>G c.*6562A>G (n.*6562A>G) n.3153A>G c.6692A>G (p.Asn2231Ser) c.6704A>G (p.Asn2235Ser) c.6839A>G (p.Asn2280Ser) c.148A>G n.828A>G | |
17 | g.1651122T>G | CA397563625 | PRPF8 | c.6659A>C (p.Asn2220Thr) c.2587A>C c.*6562A>C (n.*6562A>C) n.3153A>C c.6692A>C (p.Asn2231Thr) c.6704A>C (p.Asn2235Thr) c.6839A>C (p.Asn2280Thr) c.148A>C n.828A>C | |
17 | g.1651123T>A | CA397563627 | PRPF8 | c.6658A>T (p.Asn2220Tyr) c.2586A>T c.*6561A>T (n.*6561A>T) n.3152A>T c.6691A>T (p.Asn2231Tyr) c.6703A>T (p.Asn2235Tyr) c.6838A>T (p.Asn2280Tyr) c.147A>T n.827A>T | |
17 | g.1651123T>C | CA397563628 | PRPF8 | c.6658A>G (p.Asn2220Asp) c.2586A>G c.*6561A>G (n.*6561A>G) n.3152A>G c.6691A>G (p.Asn2231Asp) c.6703A>G (p.Asn2235Asp) c.6838A>G (p.Asn2280Asp) c.147A>G n.827A>G | ClinVar dbSNP |
17 | g.1651123T>G | CA397563630 | PRPF8 | c.6658A>C (p.Asn2220His) c.2586A>C c.*6561A>C (n.*6561A>C) n.3152A>C c.6691A>C (p.Asn2231His) c.6703A>C (p.Asn2235His) c.6838A>C (p.Asn2280His) c.147A>C n.827A>C | |
17 | g.1651123T= | CA2242977645 | PRPF8 | c.6658A= (p.Asn2220=) c.2586A= c.*6561A= (n.*6561A=) n.3152A= c.6691A= (p.Asn2231=) c.6703A= (p.Asn2235=) c.6838A= (p.Asn2280=) c.147A= n.827A= | |
17 | g.1651124C>A | CA397563632 | PRPF8 | c.6657G>T (p.Trp2219Cys) c.2585G>T c.*6560G>T (n.*6560G>T) n.3151G>T c.6690G>T (p.Trp2230Cys) c.6702G>T (p.Trp2234Cys) c.6837G>T (p.Trp2279Cys) c.146G>T n.826G>T | ClinVar dbSNP |
17 | g.1651124C>G | CA397563633 | PRPF8 | c.6657G>C (p.Trp2219Cys) c.2585G>C c.*6560G>C (n.*6560G>C) n.3151G>C c.6690G>C (p.Trp2230Cys) c.6702G>C (p.Trp2234Cys) c.6837G>C (p.Trp2279Cys) c.146G>C n.826G>C | ClinVar |
17 | g.1651124C>T | CA397563634 | PRPF8 | c.6657G>A (p.Trp2219Ter) c.2585G>A c.*6560G>A (n.*6560G>A) n.3151G>A c.6690G>A (p.Trp2230Ter) c.6702G>A (p.Trp2234Ter) c.6837G>A (p.Trp2279Ter) c.146G>A n.826G>A | |
17 | g.1651124_1651125insTGTCGCTGCTTACACCGATAGAGTAAACCTCGCTACCCTTATTGCTATCGAAGATGTAAAGAGTCTGTGGCTCAGTAGTAG | CA2523235974 | PRPF8 | c.6656_6657insCTACTACTGAGCCACAGACTCTTTACATCTTCGATAGCAATAAGGGTAGCGAGGTTTACTCTATCGGTGTAAGCAGCGACA (p.Trp2219CysfsTer4) c.2584_2585insCTACTACTGAGCCACAGACTCTTTACATCTTCGATAGCAATAAGGGTAGCGAGGTTTACTCTATCGGTGTAAGCAGCGACA c.*6559_*6560insCTACTACTGAGCCACAGACTCTTTACATCTTCGATAGCAATAAGGGTAGCGAGGTTTACTCTATCGGTGTAAGCAGCGACA (n.*6559_*6560insCTACTACTGAGCCACAGACTCTTTACATCTTCGATAGCAATAAGGGTAGCGAGGTTTACTCTATCGGTGTAAGCAGCGACA) n.3150_3151insCTACTACTGAGCCACAGACTCTTTACATCTTCGATAGCAATAAGGGTAGCGAGGTTTACTCTATCGGTGTAAGCAGCGACA c.6689_6690insCTACTACTGAGCCACAGACTCTTTACATCTTCGATAGCAATAAGGGTAGCGAGGTTTACTCTATCGGTGTAAGCAGCGACA (p.Trp2230CysfsTer4) c.6701_6702insCTACTACTGAGCCACAGACTCTTTACATCTTCGATAGCAATAAGGGTAGCGAGGTTTACTCTATCGGTGTAAGCAGCGACA (p.Trp2234CysfsTer4) c.6836_6837insCTACTACTGAGCCACAGACTCTTTACATCTTCGATAGCAATAAGGGTAGCGAGGTTTACTCTATCGGTGTAAGCAGCGACA (p.Trp2279CysfsTer4) c.145_146insCTACTACTGAGCCACAGACTCTTTACATCTTCGATAGCAATAAGGGTAGCGAGGTTTACTCTATCGGTGTAAGCAGCGACA n.825_826insCTACTACTGAGCCACAGACTCTTTACATCTTCGATAGCAATAAGGGTAGCGAGGTTTACTCTATCGGTGTAAGCAGCGACA | |
17 | g.1651125C>A | CA397563635 | PRPF8 | c.6656G>T (p.Trp2219Leu) c.2584G>T c.*6559G>T (n.*6559G>T) n.3150G>T c.6689G>T (p.Trp2230Leu) c.6701G>T (p.Trp2234Leu) c.6836G>T (p.Trp2279Leu) c.145G>T n.825G>T | |
17 | g.1651125C>G | CA397563638 | PRPF8 | c.6656G>C (p.Trp2219Ser) c.2584G>C c.*6559G>C (n.*6559G>C) n.3150G>C c.6689G>C (p.Trp2230Ser) c.6701G>C (p.Trp2234Ser) c.6836G>C (p.Trp2279Ser) c.145G>C n.825G>C | |
17 | g.1651125C>T | CA397563637 | PRPF8 | c.6656G>A (p.Trp2219Ter) c.2584G>A c.*6559G>A (n.*6559G>A) n.3150G>A c.6689G>A (p.Trp2230Ter) c.6701G>A (p.Trp2234Ter) c.6836G>A (p.Trp2279Ter) c.145G>A n.825G>A | |
17 | g.1651126A>C | CA397563640 | PRPF8 | c.6655T>G (p.Trp2219Gly) c.2583T>G c.*6558T>G (n.*6558T>G) n.3149T>G c.6688T>G (p.Trp2230Gly) c.6700T>G (p.Trp2234Gly) c.6835T>G (p.Trp2279Gly) c.144T>G n.824T>G | |
17 | g.1651126A>G | CA397563641 | PRPF8 | c.6655T>C (p.Trp2219Arg) c.2583T>C c.*6558T>C (n.*6558T>C) n.3149T>C c.6688T>C (p.Trp2230Arg) c.6700T>C (p.Trp2234Arg) c.6835T>C (p.Trp2279Arg) c.144T>C n.824T>C | |
17 | g.1651126A>T | CA397563642 | PRPF8 | c.6655T>A (p.Trp2219Arg) c.2583T>A c.*6558T>A (n.*6558T>A) n.3149T>A c.6688T>A (p.Trp2230Arg) c.6700T>A (p.Trp2234Arg) c.6835T>A (p.Trp2279Arg) c.144T>A n.824T>A | |
17 | g.1651127C>A | CA497388859 | PRPF8 | c.6654G>T (p.Ser2218=) c.2582G>T c.*6557G>T (n.*6557G>T) n.3148G>T c.6687G>T (p.Ser2229=) c.6699G>T (p.Ser2233=) c.6834G>T (p.Ser2278=) c.143G>T n.823G>T | gnomAD v4 COSMIC |
17 | g.1651127C= | CA2242977652 | PRPF8 | c.6654G= (p.Ser2218=) c.2582G= c.*6557G= (n.*6557G=) n.3148G= c.6687G= (p.Ser2229=) c.6699G= (p.Ser2233=) c.6834G= (p.Ser2278=) c.143G= n.823G= | |
17 | g.1651127C>G | CA497388858 | PRPF8 | c.6654G>C (p.Ser2218=) c.2582G>C c.*6557G>C (n.*6557G>C) n.3148G>C c.6687G>C (p.Ser2229=) c.6699G>C (p.Ser2233=) c.6834G>C (p.Ser2278=) c.143G>C n.823G>C | dbSNP gnomAD v4 |
17 | g.1651127C>T | CA8271089 | PRPF8 | c.6654G>A (p.Ser2218=) c.2582G>A c.*6557G>A (n.*6557G>A) n.3148G>A c.6687G>A (p.Ser2229=) c.6699G>A (p.Ser2233=) c.6834G>A (p.Ser2278=) c.143G>A n.823G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1651128G>A | CA397563643 | PRPF8 | c.6653C>T (p.Ser2218Leu) c.2581C>T c.*6556C>T (n.*6556C>T) n.3147C>T c.6686C>T (p.Ser2229Leu) c.6698C>T (p.Ser2233Leu) c.6833C>T (p.Ser2278Leu) c.142C>T n.822C>T | ClinVar dbSNP gnomAD v4 |
17 | g.1651128G>C | CA397563645 | PRPF8 | c.6653C>G (p.Ser2218Trp) c.2581C>G c.*6556C>G (n.*6556C>G) n.3147C>G c.6686C>G (p.Ser2229Trp) c.6698C>G (p.Ser2233Trp) c.6833C>G (p.Ser2278Trp) c.142C>G n.822C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1651128G= | CA2242977657 | PRPF8 | c.6653C= (p.Ser2218=) c.2581C= c.*6556C= (n.*6556C=) n.3147C= c.6686C= (p.Ser2229=) c.6698C= (p.Ser2233=) c.6833C= (p.Ser2278=) c.142C= n.822C= | |
17 | g.1651128G>T | CA397563646 | PRPF8 | c.6653C>A (p.Ser2218Ter) c.2581C>A c.*6556C>A (n.*6556C>A) n.3147C>A c.6686C>A (p.Ser2229Ter) c.6698C>A (p.Ser2233Ter) c.6833C>A (p.Ser2278Ter) c.142C>A n.822C>A | |
17 | g.1651129A>C | CA397563647 | PRPF8 | c.6652T>G (p.Ser2218Ala) c.2580T>G c.*6555T>G (n.*6555T>G) n.3146T>G c.6685T>G (p.Ser2229Ala) c.6697T>G (p.Ser2233Ala) c.6832T>G (p.Ser2278Ala) c.141T>G n.821T>G | |
17 | g.1651129A>G | CA397563648 | PRPF8 | c.6652T>C (p.Ser2218Pro) c.2580T>C c.*6555T>C (n.*6555T>C) n.3146T>C c.6685T>C (p.Ser2229Pro) c.6697T>C (p.Ser2233Pro) c.6832T>C (p.Ser2278Pro) c.141T>C n.821T>C | |
17 | g.1651129A>T | CA397563649 | PRPF8 | c.6652T>A (p.Ser2218Thr) c.2580T>A c.*6555T>A (n.*6555T>A) n.3146T>A c.6685T>A (p.Ser2229Thr) c.6697T>A (p.Ser2233Thr) c.6832T>A (p.Ser2278Thr) c.141T>A n.821T>A | |
17 | g.1651130G>A | CA497388860 | PRPF8 | c.6651C>T (p.Ser2217=) c.2579C>T c.*6554C>T (n.*6554C>T) n.3145C>T c.6684C>T (p.Ser2228=) c.6696C>T (p.Ser2232=) c.6831C>T (p.Ser2277=) c.140C>T n.820C>T | gnomAD v4 |
17 | g.1651130G>C | CA497388861 | PRPF8 | c.6651C>G (p.Ser2217=) c.2579C>G c.*6554C>G (n.*6554C>G) n.3145C>G c.6684C>G (p.Ser2228=) c.6696C>G (p.Ser2232=) c.6831C>G (p.Ser2277=) c.140C>G n.820C>G | |
17 | g.1651130G>T | CA497388862 | PRPF8 | c.6651C>A (p.Ser2217=) c.2579C>A c.*6554C>A (n.*6554C>A) n.3145C>A c.6684C>A (p.Ser2228=) c.6696C>A (p.Ser2232=) c.6831C>A (p.Ser2277=) c.140C>A n.820C>A | |
17 | g.1651131G>A | CA397563650 | PRPF8 | c.6650C>T (p.Ser2217Phe) c.2578C>T c.*6553C>T (n.*6553C>T) n.3144C>T c.6683C>T (p.Ser2228Phe) c.6695C>T (p.Ser2232Phe) c.6830C>T (p.Ser2277Phe) c.139C>T n.819C>T | |
17 | g.1651131G>C | CA397563652 | PRPF8 | c.6650C>G (p.Ser2217Cys) c.2578C>G c.*6553C>G (n.*6553C>G) n.3144C>G c.6683C>G (p.Ser2228Cys) c.6695C>G (p.Ser2232Cys) c.6830C>G (p.Ser2277Cys) c.139C>G n.819C>G | |
17 | g.1651131G= | CA2242977659 | PRPF8 | c.6650C= (p.Ser2217=) c.2578C= c.*6553C= (n.*6553C=) n.3144C= c.6683C= (p.Ser2228=) c.6695C= (p.Ser2232=) c.6830C= (p.Ser2277=) c.139C= n.819C= | |
17 | g.1651131G>T | CA8271090 | PRPF8 | c.6650C>A (p.Ser2217Tyr) c.2578C>A c.*6553C>A (n.*6553C>A) n.3144C>A c.6683C>A (p.Ser2228Tyr) c.6695C>A (p.Ser2232Tyr) c.6830C>A (p.Ser2277Tyr) c.139C>A n.819C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1651132A>C | CA397563655 | PRPF8 | c.6649T>G (p.Ser2217Ala) c.2577T>G c.*6552T>G (n.*6552T>G) n.3143T>G c.6682T>G (p.Ser2228Ala) c.6694T>G (p.Ser2232Ala) c.6829T>G (p.Ser2277Ala) c.138T>G n.818T>G | |
17 | g.1651132A>G | CA397563657 | PRPF8 | c.6649T>C (p.Ser2217Pro) c.2577T>C c.*6552T>C (n.*6552T>C) n.3143T>C c.6682T>C (p.Ser2228Pro) c.6694T>C (p.Ser2232Pro) c.6829T>C (p.Ser2277Pro) c.138T>C n.818T>C | |
17 | g.1651132A>T | CA397563656 | PRPF8 | c.6649T>A (p.Ser2217Thr) c.2577T>A c.*6552T>A (n.*6552T>A) n.3143T>A c.6682T>A (p.Ser2228Thr) c.6694T>A (p.Ser2232Thr) c.6829T>A (p.Ser2277Thr) c.138T>A n.818T>A | |
17 | g.1651133C>A | CA397563659 | PRPF8 | c.6648G>T (p.Gln2216His) c.2576G>T c.*6551G>T (n.*6551G>T) n.3142G>T c.6681G>T (p.Gln2227His) c.6693G>T (p.Gln2231His) c.6828G>T (p.Gln2276His) c.137G>T n.817G>T | |
17 | g.1651133C>G | CA397563660 | PRPF8 | c.6648G>C (p.Gln2216His) c.2576G>C c.*6551G>C (n.*6551G>C) n.3142G>C c.6681G>C (p.Gln2227His) c.6693G>C (p.Gln2231His) c.6828G>C (p.Gln2276His) c.137G>C n.817G>C | |
17 | g.1651133C>T | CA497388863 | PRPF8 | c.6648G>A (p.Gln2216=) c.2576G>A c.*6551G>A (n.*6551G>A) n.3142G>A c.6681G>A (p.Gln2227=) c.6693G>A (p.Gln2231=) c.6828G>A (p.Gln2276=) c.137G>A n.817G>A | |
17 | g.1651134T>A | CA397563661 | PRPF8 | c.6647A>T (p.Gln2216Leu) c.2575A>T c.*6550A>T (n.*6550A>T) n.3141A>T c.6680A>T (p.Gln2227Leu) c.6692A>T (p.Gln2231Leu) c.6827A>T (p.Gln2276Leu) c.136A>T n.816A>T | |
17 | g.1651134T>C | CA397563663 | PRPF8 | c.6647A>G (p.Gln2216Arg) c.2575A>G c.*6550A>G (n.*6550A>G) n.3141A>G c.6680A>G (p.Gln2227Arg) c.6692A>G (p.Gln2231Arg) c.6827A>G (p.Gln2276Arg) c.136A>G n.816A>G | gnomAD v4 |
17 | g.1651134T>G | CA397563664 | PRPF8 | c.6647A>C (p.Gln2216Pro) c.2575A>C c.*6550A>C (n.*6550A>C) n.3141A>C c.6680A>C (p.Gln2227Pro) c.6692A>C (p.Gln2231Pro) c.6827A>C (p.Gln2276Pro) c.136A>C n.816A>C | gnomAD v4 |
17 | g.1651135G>A | CA397563666 | PRPF8 | c.6646C>T (p.Gln2216Ter) c.2574C>T c.*6549C>T (n.*6549C>T) n.3140C>T c.6679C>T (p.Gln2227Ter) c.6691C>T (p.Gln2231Ter) c.6826C>T (p.Gln2276Ter) c.135C>T n.815C>T | |
17 | g.1651135G>C | CA397563667 | PRPF8 | c.6646C>G (p.Gln2216Glu) c.2574C>G c.*6549C>G (n.*6549C>G) n.3140C>G c.6679C>G (p.Gln2227Glu) c.6691C>G (p.Gln2231Glu) c.6826C>G (p.Gln2276Glu) c.135C>G n.815C>G | |
17 | g.1651135G>T | CA397563669 | PRPF8 | c.6646C>A (p.Gln2216Lys) c.2574C>A c.*6549C>A (n.*6549C>A) n.3140C>A c.6679C>A (p.Gln2227Lys) c.6691C>A (p.Gln2231Lys) c.6826C>A (p.Gln2276Lys) c.135C>A n.815C>A | |
17 | g.1651136G>A | CA8271091 | PRPF8 | c.6645C>T (p.Ala2215=) c.2573C>T c.*6548C>T (n.*6548C>T) n.3139C>T c.6678C>T (p.Ala2226=) c.6690C>T (p.Ala2230=) c.6825C>T (p.Ala2275=) c.134C>T n.814C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1651136G>C | CA497388864 | PRPF8 | c.6645C>G (p.Ala2215=) c.2573C>G c.*6548C>G (n.*6548C>G) n.3139C>G c.6678C>G (p.Ala2226=) c.6690C>G (p.Ala2230=) c.6825C>G (p.Ala2275=) c.134C>G n.814C>G | gnomAD v4 |
17 | g.1651136G= | CA2242977662 | PRPF8 | c.6645C= (p.Ala2215=) c.2573C= c.*6548C= (n.*6548C=) n.3139C= c.6678C= (p.Ala2226=) c.6690C= (p.Ala2230=) c.6825C= (p.Ala2275=) c.134C= n.814C= | |
17 | g.1651136G>T | CA497388865 | PRPF8 | c.6645C>A (p.Ala2215=) c.2573C>A c.*6548C>A (n.*6548C>A) n.3139C>A c.6678C>A (p.Ala2226=) c.6690C>A (p.Ala2230=) c.6825C>A (p.Ala2275=) c.134C>A n.814C>A | |
17 | g.1651137G>A | CA397563674 | PRPF8 | c.6644C>T (p.Ala2215Val) c.2572C>T c.*6547C>T (n.*6547C>T) n.3138C>T c.6677C>T (p.Ala2226Val) c.6689C>T (p.Ala2230Val) c.6824C>T (p.Ala2275Val) c.133C>T n.813C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.1651137G>C | CA397563673 | PRPF8 | c.6644C>G (p.Ala2215Gly) c.2572C>G c.*6547C>G (n.*6547C>G) n.3138C>G c.6677C>G (p.Ala2226Gly) c.6689C>G (p.Ala2230Gly) c.6824C>G (p.Ala2275Gly) c.133C>G n.813C>G | |
17 | g.1651137G= | CA2242977666 | PRPF8 | c.6644C= (p.Ala2215=) c.2572C= c.*6547C= (n.*6547C=) n.3138C= c.6677C= (p.Ala2226=) c.6689C= (p.Ala2230=) c.6824C= (p.Ala2275=) c.133C= n.813C= | |
17 | g.1651137G>T | CA397563671 | PRPF8 | c.6644C>A (p.Ala2215Asp) c.2572C>A c.*6547C>A (n.*6547C>A) n.3138C>A c.6677C>A (p.Ala2226Asp) c.6689C>A (p.Ala2230Asp) c.6824C>A (p.Ala2275Asp) c.133C>A n.813C>A | |
17 | g.1651138C>A | CA397563676 | PRPF8 | c.6643G>T (p.Ala2215Ser) c.2571G>T c.*6546G>T (n.*6546G>T) n.3137G>T c.6676G>T (p.Ala2226Ser) c.6688G>T (p.Ala2230Ser) c.6823G>T (p.Ala2275Ser) c.132G>T n.812G>T | dbSNP |
17 | g.1651138C= | CA2242977671 | PRPF8 | c.6643G= (p.Ala2215=) c.2571G= c.*6546G= (n.*6546G=) n.3137G= c.6676G= (p.Ala2226=) c.6688G= (p.Ala2230=) c.6823G= (p.Ala2275=) c.132G= n.812G= | |
17 | g.1651138C>G | CA397563678 | PRPF8 | c.6643G>C (p.Ala2215Pro) c.2571G>C c.*6546G>C (n.*6546G>C) n.3137G>C c.6676G>C (p.Ala2226Pro) c.6688G>C (p.Ala2230Pro) c.6823G>C (p.Ala2275Pro) c.132G>C n.812G>C | |
17 | g.1651138C>T | CA397563679 | PRPF8 | c.6643G>A (p.Ala2215Thr) c.2571G>A c.*6546G>A (n.*6546G>A) n.3137G>A c.6676G>A (p.Ala2226Thr) c.6688G>A (p.Ala2230Thr) c.6823G>A (p.Ala2275Thr) c.132G>A n.812G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.1651139A>C | CA497388866 | PRPF8 | c.6642T>G (p.Pro2214=) c.2570T>G c.*6545T>G (n.*6545T>G) n.3136T>G c.6675T>G (p.Pro2225=) c.6687T>G (p.Pro2229=) c.6822T>G (p.Pro2274=) c.131T>G n.811T>G | |
17 | g.1651139A>G | CA497388868 | PRPF8 | c.6642T>C (p.Pro2214=) c.2570T>C c.*6545T>C (n.*6545T>C) n.3136T>C c.6675T>C (p.Pro2225=) c.6687T>C (p.Pro2229=) c.6822T>C (p.Pro2274=) c.131T>C n.811T>C | |
17 | g.1651139A>T | CA497388867 | PRPF8 | c.6642T>A (p.Pro2214=) c.2570T>A c.*6545T>A (n.*6545T>A) n.3136T>A c.6675T>A (p.Pro2225=) c.6687T>A (p.Pro2229=) c.6822T>A (p.Pro2274=) c.131T>A n.811T>A | |
17 | g.1651140G>A | CA397563680 | PRPF8 | c.6641C>T (p.Pro2214Leu) c.2569C>T c.*6544C>T (n.*6544C>T) n.3135C>T c.6674C>T (p.Pro2225Leu) c.6686C>T (p.Pro2229Leu) c.6821C>T (p.Pro2274Leu) c.130C>T n.810C>T | ClinVar dbSNP COSMIC |
17 | g.1651140G>C | CA397563682 | PRPF8 | c.6641C>G (p.Pro2214Arg) c.2569C>G c.*6544C>G (n.*6544C>G) n.3135C>G c.6674C>G (p.Pro2225Arg) c.6686C>G (p.Pro2229Arg) c.6821C>G (p.Pro2274Arg) c.130C>G n.810C>G | |
17 | g.1651140G= | CA2242977674 | PRPF8 | c.6641C= (p.Pro2214=) c.2569C= c.*6544C= (n.*6544C=) n.3135C= c.6674C= (p.Pro2225=) c.6686C= (p.Pro2229=) c.6821C= (p.Pro2274=) c.130C= n.810C= | |
17 | g.1651140G>T | CA397563683 | PRPF8 | c.6641C>A (p.Pro2214His) c.2569C>A c.*6544C>A (n.*6544C>A) n.3135C>A c.6674C>A (p.Pro2225His) c.6686C>A (p.Pro2229His) c.6821C>A (p.Pro2274His) c.130C>A n.810C>A | |
17 | g.1651141G>A | CA397563687 | PRPF8 | c.6640C>T (p.Pro2214Ser) c.2568C>T c.*6543C>T (n.*6543C>T) n.3134C>T c.6673C>T (p.Pro2225Ser) c.6685C>T (p.Pro2229Ser) c.6820C>T (p.Pro2274Ser) c.129C>T n.809C>T | |
17 | g.1651141G>C | CA397563686 | PRPF8 | c.6640C>G (p.Pro2214Ala) c.2568C>G c.*6543C>G (n.*6543C>G) n.3134C>G c.6673C>G (p.Pro2225Ala) c.6685C>G (p.Pro2229Ala) c.6820C>G (p.Pro2274Ala) c.129C>G n.809C>G | |
17 | g.1651141G>T | CA397563685 | PRPF8 | c.6640C>A (p.Pro2214Thr) c.2568C>A c.*6543C>A (n.*6543C>A) n.3134C>A c.6673C>A (p.Pro2225Thr) c.6685C>A (p.Pro2229Thr) c.6820C>A (p.Pro2274Thr) c.129C>A n.809C>A | |
17 | g.1651142G>A | CA286849889 | PRPF8 | c.6639C>T (p.Val2213=) c.2567C>T c.*6542C>T (n.*6542C>T) n.3133C>T c.6672C>T (p.Val2224=) c.6684C>T (p.Val2228=) c.6819C>T (p.Val2273=) c.128C>T n.808C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.1651142G>C | CA497388869 | PRPF8 | c.6639C>G (p.Val2213=) c.2567C>G c.*6542C>G (n.*6542C>G) n.3133C>G c.6672C>G (p.Val2224=) c.6684C>G (p.Val2228=) c.6819C>G (p.Val2273=) c.128C>G n.808C>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.1651142G= | CA2242977681 | PRPF8 | c.6639C= (p.Val2213=) c.2567C= c.*6542C= (n.*6542C=) n.3133C= c.6672C= (p.Val2224=) c.6684C= (p.Val2228=) c.6819C= (p.Val2273=) c.128C= n.808C= | |
17 | g.1651142G>T | CA497388870 | PRPF8 | c.6639C>A (p.Val2213=) c.2567C>A c.*6542C>A (n.*6542C>A) n.3133C>A c.6672C>A (p.Val2224=) c.6684C>A (p.Val2228=) c.6819C>A (p.Val2273=) c.128C>A n.808C>A | |
17 | g.1651143A>C | CA397563689 | PRPF8 | c.6638T>G (p.Val2213Gly) c.2566T>G c.*6541T>G (n.*6541T>G) n.3132T>G c.6671T>G (p.Val2224Gly) c.6683T>G (p.Val2228Gly) c.6818T>G (p.Val2273Gly) c.127T>G n.807T>G | |
17 | g.1651143A>G | CA397563691 | PRPF8 | c.6638T>C (p.Val2213Ala) c.2566T>C c.*6541T>C (n.*6541T>C) n.3132T>C c.6671T>C (p.Val2224Ala) c.6683T>C (p.Val2228Ala) c.6818T>C (p.Val2273Ala) c.127T>C n.807T>C | |
17 | g.1651143A>T | CA397563693 | PRPF8 | c.6638T>A (p.Val2213Asp) c.2566T>A c.*6541T>A (n.*6541T>A) n.3132T>A c.6671T>A (p.Val2224Asp) c.6683T>A (p.Val2228Asp) c.6818T>A (p.Val2273Asp) c.127T>A n.807T>A | |
17 | g.1651144C>A | CA397563694 | PRPF8 | c.6637G>T (p.Val2213Phe) c.2565G>T c.*6540G>T (n.*6540G>T) n.3131G>T c.6670G>T (p.Val2224Phe) c.6682G>T (p.Val2228Phe) c.6817G>T (p.Val2273Phe) c.126G>T n.806G>T | |
17 | g.1651144C>G | CA397563696 | PRPF8 | c.6637G>C (p.Val2213Leu) c.2565G>C c.*6540G>C (n.*6540G>C) n.3131G>C c.6670G>C (p.Val2224Leu) c.6682G>C (p.Val2228Leu) c.6817G>C (p.Val2273Leu) c.126G>C n.806G>C | |
17 | g.1651144C>T | CA397563697 | PRPF8 | c.6637G>A (p.Val2213Ile) c.2565G>A c.*6540G>A (n.*6540G>A) n.3131G>A c.6670G>A (p.Val2224Ile) c.6682G>A (p.Val2228Ile) c.6817G>A (p.Val2273Ile) c.126G>A n.806G>A | |
17 | g.1651145C>A | CA397563699 | PRPF8 | c.6636G>T (p.Met2212Ile) c.2564G>T c.*6539G>T (n.*6539G>T) n.3130G>T c.6669G>T (p.Met2223Ile) c.6681G>T (p.Met2227Ile) c.6816G>T (p.Met2272Ile) c.125G>T n.805G>T | |
17 | g.1651145C>G | CA397563701 | PRPF8 | c.6636G>C (p.Met2212Ile) c.2564G>C c.*6539G>C (n.*6539G>C) n.3130G>C c.6669G>C (p.Met2223Ile) c.6681G>C (p.Met2227Ile) c.6816G>C (p.Met2272Ile) c.125G>C n.805G>C | |
17 | g.1651145C>T | CA397563700 | PRPF8 | c.6636G>A (p.Met2212Ile) c.2564G>A c.*6539G>A (n.*6539G>A) n.3130G>A c.6669G>A (p.Met2223Ile) c.6681G>A (p.Met2227Ile) c.6816G>A (p.Met2272Ile) c.125G>A n.805G>A | |
17 | g.1651146A= | CA2242977686 | PRPF8 | c.6635T= (p.Met2212=) c.2563T= c.*6538T= (n.*6538T=) n.3129T= c.6668T= (p.Met2223=) c.6680T= (p.Met2227=) c.6815T= (p.Met2272=) c.124T= n.804T= | |
17 | g.1651146A>C | CA397563702 | PRPF8 | c.6635T>G (p.Met2212Arg) c.2563T>G c.*6538T>G (n.*6538T>G) n.3129T>G c.6668T>G (p.Met2223Arg) c.6680T>G (p.Met2227Arg) c.6815T>G (p.Met2272Arg) c.124T>G n.804T>G | |
17 | g.1651146A>G | CA397563703 | PRPF8 | c.6635T>C (p.Met2212Thr) c.2563T>C c.*6538T>C (n.*6538T>C) n.3129T>C c.6668T>C (p.Met2223Thr) c.6680T>C (p.Met2227Thr) c.6815T>C (p.Met2272Thr) c.124T>C n.804T>C | |
17 | g.1651146A>T | CA397563704 | PRPF8 | c.6635T>A (p.Met2212Lys) c.2563T>A c.*6538T>A (n.*6538T>A) n.3129T>A c.6668T>A (p.Met2223Lys) c.6680T>A (p.Met2227Lys) c.6815T>A (p.Met2272Lys) c.124T>A n.804T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1651147T>A | CA397563705 | PRPF8 | c.6634A>T (p.Met2212Leu) c.2562A>T c.*6537A>T (n.*6537A>T) n.3128A>T c.6667A>T (p.Met2223Leu) c.6679A>T (p.Met2227Leu) c.6814A>T (p.Met2272Leu) c.123A>T n.803A>T | |
17 | g.1651147T>C | CA397563707 | PRPF8 | c.6634A>G (p.Met2212Val) c.2562A>G c.*6537A>G (n.*6537A>G) n.3128A>G c.6667A>G (p.Met2223Val) c.6679A>G (p.Met2227Val) c.6814A>G (p.Met2272Val) c.123A>G n.803A>G | |
17 | g.1651147T>G | CA397563708 | PRPF8 | c.6634A>C (p.Met2212Leu) c.2562A>C c.*6537A>C (n.*6537A>C) n.3128A>C c.6667A>C (p.Met2223Leu) c.6679A>C (p.Met2227Leu) c.6814A>C (p.Met2272Leu) c.123A>C n.803A>C | |
17 | g.1651148G>A | CA497388871 | PRPF8 | c.6633C>T (p.Phe2211=) c.2561C>T c.*6536C>T (n.*6536C>T) n.3127C>T c.6666C>T (p.Phe2222=) c.6678C>T (p.Phe2226=) c.6813C>T (p.Phe2271=) c.122C>T n.802C>T | |
17 | g.1651148G>C | CA397563710 | PRPF8 | c.6633C>G (p.Phe2211Leu) c.2561C>G c.*6536C>G (n.*6536C>G) n.3127C>G c.6666C>G (p.Phe2222Leu) c.6678C>G (p.Phe2226Leu) c.6813C>G (p.Phe2271Leu) c.122C>G n.802C>G | |
17 | g.1651148G>T | CA397563711 | PRPF8 | c.6633C>A (p.Phe2211Leu) c.2561C>A c.*6536C>A (n.*6536C>A) n.3127C>A c.6666C>A (p.Phe2222Leu) c.6678C>A (p.Phe2226Leu) c.6813C>A (p.Phe2271Leu) c.122C>A n.802C>A | |
17 | g.1651152_1651154del | CA2635249017 | PRPF8 | c.6631_6633del (p.Phe2211del) c.2559_2561del c.*6534_*6536del (n.*6534_*6536del) n.3125_3127del c.6664_6666del (p.Phe2222del) c.6676_6678del (p.Phe2226del) c.6811_6813del (p.Phe2271del) c.120_122del n.800_802del | gnomAD v4 |
17 | g.1651149A>C | CA397563713 | PRPF8 | c.6632T>G (p.Phe2211Cys) c.2560T>G c.*6535T>G (n.*6535T>G) n.3126T>G c.6665T>G (p.Phe2222Cys) c.6677T>G (p.Phe2226Cys) c.6812T>G (p.Phe2271Cys) c.121T>G n.801T>G | |
17 | g.1651149A>G | CA397563714 | PRPF8 | c.6632T>C (p.Phe2211Ser) c.2560T>C c.*6535T>C (n.*6535T>C) n.3126T>C c.6665T>C (p.Phe2222Ser) c.6677T>C (p.Phe2226Ser) c.6812T>C (p.Phe2271Ser) c.121T>C n.801T>C | |
17 | g.1651149A>T | CA397563715 | PRPF8 | c.6632T>A (p.Phe2211Tyr) c.2560T>A c.*6535T>A (n.*6535T>A) n.3126T>A c.6665T>A (p.Phe2222Tyr) c.6677T>A (p.Phe2226Tyr) c.6812T>A (p.Phe2271Tyr) c.121T>A n.801T>A | |
17 | g.1651150A>C | CA397563717 | PRPF8 | c.6631T>G (p.Phe2211Val) c.2559T>G c.*6534T>G (n.*6534T>G) n.3125T>G c.6664T>G (p.Phe2222Val) c.6676T>G (p.Phe2226Val) c.6811T>G (p.Phe2271Val) c.120T>G n.800T>G | |
17 | g.1651150A>G | CA397563721 | PRPF8 | c.6631T>C (p.Phe2211Leu) c.2559T>C c.*6534T>C (n.*6534T>C) n.3125T>C c.6664T>C (p.Phe2222Leu) c.6676T>C (p.Phe2226Leu) c.6811T>C (p.Phe2271Leu) c.120T>C n.800T>C | |
17 | g.1651150A>T | CA397563719 | PRPF8 | c.6631T>A (p.Phe2211Ile) c.2559T>A c.*6534T>A (n.*6534T>A) n.3125T>A c.6664T>A (p.Phe2222Ile) c.6676T>A (p.Phe2226Ile) c.6811T>A (p.Phe2271Ile) c.120T>A n.800T>A | |
17 | g.1651151G>A | CA497388872 | PRPF8 | c.6630C>T (p.Phe2210=) c.2558C>T c.*6533C>T (n.*6533C>T) n.3124C>T c.6663C>T (p.Phe2221=) c.6675C>T (p.Phe2225=) c.6810C>T (p.Phe2270=) c.119C>T n.799C>T | gnomAD v4 |
17 | g.1651151G>C | CA397563722 | PRPF8 | c.6630C>G (p.Phe2210Leu) c.2558C>G c.*6533C>G (n.*6533C>G) n.3124C>G c.6663C>G (p.Phe2221Leu) c.6675C>G (p.Phe2225Leu) c.6810C>G (p.Phe2270Leu) c.119C>G n.799C>G | |
17 | g.1651151G>T | CA397563723 | PRPF8 | c.6630C>A (p.Phe2210Leu) c.2558C>A c.*6533C>A (n.*6533C>A) n.3124C>A c.6663C>A (p.Phe2221Leu) c.6675C>A (p.Phe2225Leu) c.6810C>A (p.Phe2270Leu) c.119C>A n.799C>A | |
17 | g.1651152A= | CA2242977689 | PRPF8 | c.6629T= (p.Phe2210=) c.2557T= c.*6532T= (n.*6532T=) n.3123T= c.6662T= (p.Phe2221=) c.6674T= (p.Phe2225=) c.6809T= (p.Phe2270=) c.118T= n.798T= | |
17 | g.1651152A>C | CA8271092 | PRPF8 | c.6629T>G (p.Phe2210Cys) c.2557T>G c.*6532T>G (n.*6532T>G) n.3123T>G c.6662T>G (p.Phe2221Cys) c.6674T>G (p.Phe2225Cys) c.6809T>G (p.Phe2270Cys) c.118T>G n.798T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1651152A>G | CA397563725 | PRPF8 | c.6629T>C (p.Phe2210Ser) c.2557T>C c.*6532T>C (n.*6532T>C) n.3123T>C c.6662T>C (p.Phe2221Ser) c.6674T>C (p.Phe2225Ser) c.6809T>C (p.Phe2270Ser) c.118T>C n.798T>C | |
17 | g.1651152A>T | CA397563726 | PRPF8 | c.6629T>A (p.Phe2210Tyr) c.2557T>A c.*6532T>A (n.*6532T>A) n.3123T>A c.6662T>A (p.Phe2221Tyr) c.6674T>A (p.Phe2225Tyr) c.6809T>A (p.Phe2270Tyr) c.118T>A n.798T>A | |
17 | g.1651153A>C | CA397563728 | PRPF8 | c.6628T>G (p.Phe2210Val) c.2556T>G c.*6531T>G (n.*6531T>G) n.3122T>G c.6661T>G (p.Phe2221Val) c.6673T>G (p.Phe2225Val) c.6808T>G (p.Phe2270Val) c.117T>G n.797T>G | |
17 | g.1651153A>G | CA397563729 | PRPF8 | c.6628T>C (p.Phe2210Leu) c.2556T>C c.*6531T>C (n.*6531T>C) n.3122T>C c.6661T>C (p.Phe2221Leu) c.6673T>C (p.Phe2225Leu) c.6808T>C (p.Phe2270Leu) c.117T>C n.797T>C | |
17 | g.1651153A>T | CA397563730 | PRPF8 | c.6628T>A (p.Phe2210Ile) c.2556T>A c.*6531T>A (n.*6531T>A) n.3122T>A c.6661T>A (p.Phe2221Ile) c.6673T>A (p.Phe2225Ile) c.6808T>A (p.Phe2270Ile) c.117T>A n.797T>A | |
17 | g.1651154G>A | CA497388873 | PRPF8 | c.6627C>T (p.Gly2209=) c.2555C>T c.*6530C>T (n.*6530C>T) n.3121C>T c.6660C>T (p.Gly2220=) c.6672C>T (p.Gly2224=) c.6807C>T (p.Gly2269=) c.116C>T n.796C>T | |
17 | g.1651154G>C | CA497388874 | PRPF8 | c.6627C>G (p.Gly2209=) c.2555C>G c.*6530C>G (n.*6530C>G) n.3121C>G c.6660C>G (p.Gly2220=) c.6672C>G (p.Gly2224=) c.6807C>G (p.Gly2269=) c.116C>G n.796C>G | |
17 | g.1651154G>T | CA497388875 | PRPF8 | c.6627C>A (p.Gly2209=) c.2555C>A c.*6530C>A (n.*6530C>A) n.3121C>A c.6660C>A (p.Gly2220=) c.6672C>A (p.Gly2224=) c.6807C>A (p.Gly2269=) c.116C>A n.796C>A | |
17 | g.1651155C>A | CA397563732 | PRPF8 | c.6626G>T (p.Gly2209Val) c.2554G>T c.*6529G>T (n.*6529G>T) n.3120G>T c.6659G>T (p.Gly2220Val) c.6671G>T (p.Gly2224Val) c.6806G>T (p.Gly2269Val) c.115G>T n.795G>T | |
17 | g.1651155C>G | CA397563734 | PRPF8 | c.6626G>C (p.Gly2209Ala) c.2554G>C c.*6529G>C (n.*6529G>C) n.3120G>C c.6659G>C (p.Gly2220Ala) c.6671G>C (p.Gly2224Ala) c.6806G>C (p.Gly2269Ala) c.115G>C n.795G>C | |
17 | g.1651155C>T | CA397563735 | PRPF8 | c.6626G>A (p.Gly2209Asp) c.2554G>A c.*6529G>A (n.*6529G>A) n.3120G>A c.6659G>A (p.Gly2220Asp) c.6671G>A (p.Gly2224Asp) c.6806G>A (p.Gly2269Asp) c.115G>A n.795G>A | |
17 | g.1651156C>A | CA397563739 | PRPF8 | c.6625G>T (p.Gly2209Cys) c.2553G>T c.*6528G>T (n.*6528G>T) n.3119G>T c.6658G>T (p.Gly2220Cys) c.6670G>T (p.Gly2224Cys) c.6805G>T (p.Gly2269Cys) c.114G>T n.794G>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.1651156C= | CA2242977691 | PRPF8 | c.6625G= (p.Gly2209=) c.2553G= c.*6528G= (n.*6528G=) n.3119G= c.6658G= (p.Gly2220=) c.6670G= (p.Gly2224=) c.6805G= (p.Gly2269=) c.114G= n.794G= | |
17 | g.1651156C>G | CA397563738 | PRPF8 | c.6625G>C (p.Gly2209Arg) c.2553G>C c.*6528G>C (n.*6528G>C) n.3119G>C c.6658G>C (p.Gly2220Arg) c.6670G>C (p.Gly2224Arg) c.6805G>C (p.Gly2269Arg) c.114G>C n.794G>C | |
17 | g.1651156C>T | CA397563737 | PRPF8 | c.6625G>A (p.Gly2209Ser) c.2553G>A c.*6528G>A (n.*6528G>A) n.3119G>A c.6658G>A (p.Gly2220Ser) c.6670G>A (p.Gly2224Ser) c.6805G>A (p.Gly2269Ser) c.114G>A n.794G>A | |
17 | g.1651157A>C | CA497388876 | PRPF8 | c.6624T>G (p.Leu2208=) c.2552T>G c.*6527T>G (n.*6527T>G) n.3118T>G c.6657T>G (p.Leu2219=) c.6669T>G (p.Leu2223=) c.6804T>G (p.Leu2268=) c.113T>G n.793T>G | |
17 | g.1651157A>G | CA497388877 | PRPF8 | c.6624T>C (p.Leu2208=) c.2552T>C c.*6527T>C (n.*6527T>C) n.3118T>C c.6657T>C (p.Leu2219=) c.6669T>C (p.Leu2223=) c.6804T>C (p.Leu2268=) c.113T>C n.793T>C | |
17 | g.1651157A>T | CA497388878 | PRPF8 | c.6624T>A (p.Leu2208=) c.2552T>A c.*6527T>A (n.*6527T>A) n.3118T>A c.6657T>A (p.Leu2219=) c.6669T>A (p.Leu2223=) c.6804T>A (p.Leu2268=) c.113T>A n.793T>A | |
17 | g.1651158A>C | CA397563741 | PRPF8 | c.6623T>G (p.Leu2208Arg) c.2551T>G c.*6526T>G (n.*6526T>G) n.3117T>G c.6656T>G (p.Leu2219Arg) c.6668T>G (p.Leu2223Arg) c.6803T>G (p.Leu2268Arg) c.112T>G n.792T>G | |
17 | g.1651158A>G | CA397563743 | PRPF8 | c.6623T>C (p.Leu2208Pro) c.2551T>C c.*6526T>C (n.*6526T>C) n.3117T>C c.6656T>C (p.Leu2219Pro) c.6668T>C (p.Leu2223Pro) c.6803T>C (p.Leu2268Pro) c.112T>C n.792T>C | |
17 | g.1651158A>T | CA397563745 | PRPF8 | c.6623T>A (p.Leu2208His) c.2551T>A c.*6526T>A (n.*6526T>A) n.3117T>A c.6656T>A (p.Leu2219His) c.6668T>A (p.Leu2223His) c.6803T>A (p.Leu2268His) c.112T>A n.792T>A | |
17 | g.1651159G>A | CA397563746 | PRPF8 | c.6622C>T (p.Leu2208Phe) c.2550C>T c.*6525C>T (n.*6525C>T) n.3116C>T c.6655C>T (p.Leu2219Phe) c.6667C>T (p.Leu2223Phe) c.6802C>T (p.Leu2268Phe) c.111C>T n.791C>T | gnomAD v4 |
17 | g.1651159G>C | CA397563747 | PRPF8 | c.6622C>G (p.Leu2208Val) c.2550C>G c.*6525C>G (n.*6525C>G) n.3116C>G c.6655C>G (p.Leu2219Val) c.6667C>G (p.Leu2223Val) c.6802C>G (p.Leu2268Val) c.111C>G n.791C>G | |
17 | g.1651159G>T | CA397563749 | PRPF8 | c.6622C>A (p.Leu2208Ile) c.2550C>A c.*6525C>A (n.*6525C>A) n.3116C>A c.6655C>A (p.Leu2219Ile) c.6667C>A (p.Leu2223Ile) c.6802C>A (p.Leu2268Ile) c.111C>A n.791C>A | |
17 | g.1651160G>A | CA8271093 | PRPF8 | c.6621C>T (p.Phe2207=) c.2549C>T c.*6524C>T (n.*6524C>T) n.3115C>T c.6654C>T (p.Phe2218=) c.6666C>T (p.Phe2222=) c.6801C>T (p.Phe2267=) c.110C>T n.790C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1651160G>C | CA397563751 | PRPF8 | c.6621C>G (p.Phe2207Leu) c.2549C>G c.*6524C>G (n.*6524C>G) n.3115C>G c.6654C>G (p.Phe2218Leu) c.6666C>G (p.Phe2222Leu) c.6801C>G (p.Phe2267Leu) c.110C>G n.790C>G | gnomAD v4 |
17 | g.1651160G= | CA2242977698 | PRPF8 | c.6621C= (p.Phe2207=) c.2549C= c.*6524C= (n.*6524C=) n.3115C= c.6654C= (p.Phe2218=) c.6666C= (p.Phe2222=) c.6801C= (p.Phe2267=) c.110C= n.790C= | |
17 | g.1651160G>T | CA397563753 | PRPF8 | c.6621C>A (p.Phe2207Leu) c.2549C>A c.*6524C>A (n.*6524C>A) n.3115C>A c.6654C>A (p.Phe2218Leu) c.6666C>A (p.Phe2222Leu) c.6801C>A (p.Phe2267Leu) c.110C>A n.790C>A | |
17 | g.1651161A>C | CA397563754 | PRPF8 | c.6620T>G (p.Phe2207Cys) c.2548T>G c.*6523T>G (n.*6523T>G) n.3114T>G c.6653T>G (p.Phe2218Cys) c.6665T>G (p.Phe2222Cys) c.6800T>G (p.Phe2267Cys) c.109T>G n.789T>G | |
17 | g.1651161A>G | CA397563755 | PRPF8 | c.6620T>C (p.Phe2207Ser) c.2548T>C c.*6523T>C (n.*6523T>C) n.3114T>C c.6653T>C (p.Phe2218Ser) c.6665T>C (p.Phe2222Ser) c.6800T>C (p.Phe2267Ser) c.109T>C n.789T>C | |
17 | g.1651161A>T | CA397563757 | PRPF8 | c.6620T>A (p.Phe2207Tyr) c.2548T>A c.*6523T>A (n.*6523T>A) n.3114T>A c.6653T>A (p.Phe2218Tyr) c.6665T>A (p.Phe2222Tyr) c.6800T>A (p.Phe2267Tyr) c.109T>A n.789T>A | |
17 | g.1651162A>C | CA397563760 | PRPF8 | c.6619T>G (p.Phe2207Val) c.2547T>G c.*6522T>G (n.*6522T>G) n.3113T>G c.6652T>G (p.Phe2218Val) c.6664T>G (p.Phe2222Val) c.6799T>G (p.Phe2267Val) c.108T>G n.788T>G | |
17 | g.1651162A>G | CA397563761 | PRPF8 | c.6619T>C (p.Phe2207Leu) c.2547T>C c.*6522T>C (n.*6522T>C) n.3113T>C c.6652T>C (p.Phe2218Leu) c.6664T>C (p.Phe2222Leu) c.6799T>C (p.Phe2267Leu) c.108T>C n.788T>C | |
17 | g.1651162A>T | CA397563759 | PRPF8 | c.6619T>A (p.Phe2207Ile) c.2547T>A c.*6522T>A (n.*6522T>A) n.3113T>A c.6652T>A (p.Phe2218Ile) c.6664T>A (p.Phe2222Ile) c.6799T>A (p.Phe2267Ile) c.108T>A n.788T>A | |
17 | g.1651163A>C | CA497388879 | PRPF8 | c.6618T>G (p.Arg2206=) c.2546T>G c.*6521T>G (n.*6521T>G) n.3112T>G c.6651T>G (p.Arg2217=) c.6663T>G (p.Arg2221=) c.6798T>G (p.Arg2266=) c.107T>G n.787T>G | |
17 | g.1651163A>G | CA497388880 | PRPF8 | c.6618T>C (p.Arg2206=) c.2546T>C c.*6521T>C (n.*6521T>C) n.3112T>C c.6651T>C (p.Arg2217=) c.6663T>C (p.Arg2221=) c.6798T>C (p.Arg2266=) c.107T>C n.787T>C | |
17 | g.1651163A>T | CA497388881 | PRPF8 | c.6618T>A (p.Arg2206=) c.2546T>A c.*6521T>A (n.*6521T>A) n.3112T>A c.6651T>A (p.Arg2217=) c.6663T>A (p.Arg2221=) c.6798T>A (p.Arg2266=) c.107T>A n.787T>A | |
17 | g.1651164C>A | CA397563765 | PRPF8 | c.6617G>T (p.Arg2206Leu) c.2545G>T c.*6520G>T (n.*6520G>T) n.3111G>T c.6650G>T (p.Arg2217Leu) c.6662G>T (p.Arg2221Leu) c.6797G>T (p.Arg2266Leu) c.106G>T n.786G>T | |
17 | g.1651164C= | CA2242977701 | PRPF8 | c.6617G= (p.Arg2206=) c.2545G= c.*6520G= (n.*6520G=) n.3111G= c.6650G= (p.Arg2217=) c.6662G= (p.Arg2221=) c.6797G= (p.Arg2266=) c.106G= n.786G= | |
17 | g.1651164C>G | CA397563763 | PRPF8 | c.6617G>C (p.Arg2206Pro) c.2545G>C c.*6520G>C (n.*6520G>C) n.3111G>C c.6650G>C (p.Arg2217Pro) c.6662G>C (p.Arg2221Pro) c.6797G>C (p.Arg2266Pro) c.106G>C n.786G>C | |
17 | g.1651164C>T | CA397563766 | PRPF8 | c.6617G>A (p.Arg2206His) c.2545G>A c.*6520G>A (n.*6520G>A) n.3111G>A c.6650G>A (p.Arg2217His) c.6662G>A (p.Arg2221His) c.6797G>A (p.Arg2266His) c.106G>A n.786G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.1651165G>A | CA8271094 | PRPF8 | c.6616C>T (p.Arg2206Cys) c.2544C>T c.*6519C>T (n.*6519C>T) n.3110C>T c.6649C>T (p.Arg2217Cys) c.6661C>T (p.Arg2221Cys) c.6796C>T (p.Arg2266Cys) c.105C>T n.785C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.1651165G>C | CA397563768 | PRPF8 | c.6616C>G (p.Arg2206Gly) c.2544C>G c.*6519C>G (n.*6519C>G) n.3110C>G c.6649C>G (p.Arg2217Gly) c.6661C>G (p.Arg2221Gly) c.6796C>G (p.Arg2266Gly) c.105C>G n.785C>G | |
17 | g.1651165G= | CA2242977705 | PRPF8 | c.6616C= (p.Arg2206=) c.2544C= c.*6519C= (n.*6519C=) n.3110C= c.6649C= (p.Arg2217=) c.6661C= (p.Arg2221=) c.6796C= (p.Arg2266=) c.105C= n.785C= | |
17 | g.1651165G>T | CA397563770 | PRPF8 | c.6616C>A (p.Arg2206Ser) c.2544C>A c.*6519C>A (n.*6519C>A) n.3110C>A c.6649C>A (p.Arg2217Ser) c.6661C>A (p.Arg2221Ser) c.6796C>A (p.Arg2266Ser) c.105C>A n.785C>A | |
17 | g.1651166G>A | CA497388882 | PRPF8 | c.6615C>T (p.Asp2205=) c.2543C>T c.*6518C>T (n.*6518C>T) n.3109C>T c.6648C>T (p.Asp2216=) c.6660C>T (p.Asp2220=) c.6795C>T (p.Asp2265=) c.104C>T n.784C>T | ClinVar dbSNP gnomAD v4 |
17 | g.1651166G>C | CA397563772 | PRPF8 | c.6615C>G (p.Asp2205Glu) c.2543C>G c.*6518C>G (n.*6518C>G) n.3109C>G c.6648C>G (p.Asp2216Glu) c.6660C>G (p.Asp2220Glu) c.6795C>G (p.Asp2265Glu) c.104C>G n.784C>G | |
17 | g.1651166G= | CA2242977708 | PRPF8 | c.6615C= (p.Asp2205=) c.2543C= c.*6518C= (n.*6518C=) n.3109C= c.6648C= (p.Asp2216=) c.6660C= (p.Asp2220=) c.6795C= (p.Asp2265=) c.104C= n.784C= | |
17 | g.1651166G>T | CA397563773 | PRPF8 | c.6615C>A (p.Asp2205Glu) c.2543C>A c.*6518C>A (n.*6518C>A) n.3109C>A c.6648C>A (p.Asp2216Glu) c.6660C>A (p.Asp2220Glu) c.6795C>A (p.Asp2265Glu) c.104C>A n.784C>A | |
17 | g.1651167T>A | CA397563775 | PRPF8 | c.6614A>T (p.Asp2205Val) c.2542A>T c.*6517A>T (n.*6517A>T) n.3108A>T c.6647A>T (p.Asp2216Val) c.6659A>T (p.Asp2220Val) c.6794A>T (p.Asp2265Val) c.103A>T n.783A>T | |
17 | g.1651167T>C | CA397563776 | PRPF8 | c.6614A>G (p.Asp2205Gly) c.2542A>G c.*6517A>G (n.*6517A>G) n.3108A>G c.6647A>G (p.Asp2216Gly) c.6659A>G (p.Asp2220Gly) c.6794A>G (p.Asp2265Gly) c.103A>G n.783A>G | |
17 | g.1651167T>G | CA397563777 | PRPF8 | c.6614A>C (p.Asp2205Ala) c.2542A>C c.*6517A>C (n.*6517A>C) n.3108A>C c.6647A>C (p.Asp2216Ala) c.6659A>C (p.Asp2220Ala) c.6794A>C (p.Asp2265Ala) c.103A>C n.783A>C | |
17 | g.1651168C>A | CA397563779 | PRPF8 | c.6613G>T (p.Asp2205Tyr) c.2541G>T c.*6516G>T (n.*6516G>T) n.3107G>T c.6646G>T (p.Asp2216Tyr) c.6658G>T (p.Asp2220Tyr) c.6793G>T (p.Asp2265Tyr) c.102G>T n.782G>T | |
17 | g.1651168C>G | CA397563780 | PRPF8 | c.6613G>C (p.Asp2205His) c.2541G>C c.*6516G>C (n.*6516G>C) n.3107G>C c.6646G>C (p.Asp2216His) c.6658G>C (p.Asp2220His) c.6793G>C (p.Asp2265His) c.102G>C n.782G>C | ClinVar dbSNP |
17 | g.1651168C>T | CA397563781 | PRPF8 | c.6613G>A (p.Asp2205Asn) c.2541G>A c.*6516G>A (n.*6516G>A) n.3107G>A c.6646G>A (p.Asp2216Asn) c.6658G>A (p.Asp2220Asn) c.6793G>A (p.Asp2265Asn) c.102G>A n.782G>A | |
17 | g.1651169C>A | CA497388883 | PRPF8 | c.6612G>T (p.Ser2204=) c.2540G>T c.*6515G>T (n.*6515G>T) n.3106G>T c.6645G>T (p.Ser2215=) c.6657G>T (p.Ser2219=) c.6792G>T (p.Ser2264=) c.101G>T n.781G>T | |
17 | g.1651169C= | CA2242977711 | PRPF8 | c.6612G= (p.Ser2204=) c.2540G= c.*6515G= (n.*6515G=) n.3106G= c.6645G= (p.Ser2215=) c.6657G= (p.Ser2219=) c.6792G= (p.Ser2264=) c.101G= n.781G= | |
17 | g.1651169C>G | CA497388884 | PRPF8 | c.6612G>C (p.Ser2204=) c.2540G>C c.*6515G>C (n.*6515G>C) n.3106G>C c.6645G>C (p.Ser2215=) c.6657G>C (p.Ser2219=) c.6792G>C (p.Ser2264=) c.101G>C n.781G>C | gnomAD v4 |
17 | g.1651169C>T | CA245637 | PRPF8 | c.6612G>A (p.Ser2204=) c.2540G>A c.*6515G>A (n.*6515G>A) n.3106G>A c.6645G>A (p.Ser2215=) c.6657G>A (p.Ser2219=) c.6792G>A (p.Ser2264=) c.101G>A n.781G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1651170G>A | CA397563787 | PRPF8 | c.6611C>T (p.Ser2204Leu) c.2539C>T c.*6514C>T (n.*6514C>T) n.3105C>T c.6644C>T (p.Ser2215Leu) c.6656C>T (p.Ser2219Leu) c.6791C>T (p.Ser2264Leu) c.100C>T n.780C>T | ClinVar dbSNP |
17 | g.1651170G>C | CA397563785 | PRPF8 | c.6611C>G (p.Ser2204Trp) c.2539C>G c.*6514C>G (n.*6514C>G) n.3105C>G c.6644C>G (p.Ser2215Trp) c.6656C>G (p.Ser2219Trp) c.6791C>G (p.Ser2264Trp) c.100C>G n.780C>G | |
17 | g.1651170G= | CA2242977716 | PRPF8 | c.6611C= (p.Ser2204=) c.2539C= c.*6514C= (n.*6514C=) n.3105C= c.6644C= (p.Ser2215=) c.6656C= (p.Ser2219=) c.6791C= (p.Ser2264=) c.100C= n.780C= | |
17 | g.1651170G>T | CA397563784 | PRPF8 | c.6611C>A (p.Ser2204Ter) c.2539C>A c.*6514C>A (n.*6514C>A) n.3105C>A c.6644C>A (p.Ser2215Ter) c.6656C>A (p.Ser2219Ter) c.6791C>A (p.Ser2264Ter) c.100C>A n.780C>A |