Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.1651082C>ACA2576113156PRPF8c.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
17g.1651082C=CA2242977605PRPF8c.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=
17g.1651082C>TCA8271084PRPF8c.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
17g.1651085A>GCA2576113157PRPF8c.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
17g.1651085A>TCA2635248951PRPF8c.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
17g.1651086T>ACA8271085PRPF8c.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
17g.1651086T=CA2242977608PRPF8c.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=
17g.1651087C=CA2242977610PRPF8c.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=
17g.1651087C>TCA2242977611PRPF8c.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
17g.1651089C=CA2242977613PRPF8c.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=
17g.1651089C>TCA624564345PRPF8c.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
17g.1651090C=CA2242977616PRPF8c.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=
17g.1651090C>GCA8271086PRPF8c.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
17g.1651091A>GCA2635248962PRPF8c.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
17g.1651092G>ACA2635248963PRPF8c.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
17g.1651092G>CCA2509498194PRPF8c.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
17g.1651092G>TCA2576113158PRPF8c.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
17g.1651093G>ACA2242977620PRPF8c.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
17g.1651093G>CCA2576113159PRPF8c.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
17g.1651093G=CA2242977619PRPF8c.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=
17g.1651094C>ACA2242977621PRPF8c.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
17g.1651094C=CA2242977622PRPF8c.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=
17g.1651096C=CA2242977623PRPF8c.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=
17g.1651096C>TCA8271087PRPF8c.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
17g.1651097C=CA2242977626PRPF8c.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=
17g.1651097C>TCA2242977627PRPF8c.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
17g.1651099C>TCA2635248965PRPF8c.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
17g.1651100C=CA2242977628PRPF8c.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=
17g.1651100C>TCA980674668PRPF8c.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
17g.1651102A>GCA2635248967PRPF8c.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
17g.1651103delCA2635248968PRPF8c.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
17g.1651105T>GCA2697556106PRPF8c.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
17g.1651106A>CCA397563558PRPF8c.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
17g.1651106A>GCA397563559PRPF8c.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
17g.1651106A>TCA397563560PRPF8c.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
17g.1651106dupCA2635248973PRPF8c.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
17g.1651107C>ACA397563561PRPF8c.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
17g.1651107C=CA2242977630PRPF8c.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=
17g.1651107C>GCA397563563PRPF8c.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
17g.1651107C>TCA397563564PRPF8c.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
17g.1651108C>ACA397563566PRPF8c.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
17g.1651108C>GCA397563568PRPF8c.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
17g.1651108C>TCA397563569PRPF8c.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
17g.1651109C>ACA397563571PRPF8c.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
17g.1651109C>GCA397563573PRPF8c.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
17g.1651109C>TCA397563574PRPF8c.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
17g.1651110A>CCA397563576PRPF8c.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
17g.1651110A>GCA397563578PRPF8c.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
17g.1651110A>TCA397563577PRPF8c.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
17g.1651111T>ACA397563581PRPF8c.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
17g.1651111T>CCA397563583PRPF8c.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
17g.1651111T>GCA397563582PRPF8c.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
17g.1651112G>ACA497388855PRPF8c.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
17g.1651112G>CCA397563585PRPF8c.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
17g.1651112G=CA2242977634PRPF8c.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=
17g.1651112G>TCA397563586PRPF8c.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
17g.1651113A>CCA397563588PRPF8c.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
17g.1651113A>GCA397563591PRPF8c.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
17g.1651113A>TCA397563590PRPF8c.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
17g.1651114A>CCA397563593PRPF8c.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
17g.1651114A>GCA397563596PRPF8c.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
17g.1651114A>TCA397563595PRPF8c.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
17g.1651115G>ACA497388856PRPF8c.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
17g.1651115G>CCA397563598PRPF8c.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
17g.1651115G>TCA397563599PRPF8c.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
17g.1651116T>ACA397563600PRPF8c.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
17g.1651116T>CCA397563601PRPF8c.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
17g.1651116T>GCA397563602PRPF8c.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
17g.1651116_1651117insGGTGCCATCCTACGTTACCCCATGCGTTGAGGAACTCTCTTCA2514343661PRPF8c.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
17g.1651117T>ACA397563604PRPF8c.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
17g.1651117T>CCA397563606PRPF8c.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
17g.1651117T>GCA397563607PRPF8c.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
17g.1651118G>ACA497388857PRPF8c.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
17g.1651118G>CCA397563608PRPF8c.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
17g.1651118G=CA2242977637PRPF8c.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=
17g.1651118G>TCA397563610PRPF8c.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
17g.1651119T>ACA397563611PRPF8c.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
17g.1651119T>CCA397563613PRPF8c.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
17g.1651119T>GCA397563614PRPF8c.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
17g.1651120delCA2548896204PRPF8c.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
17g.1651120A>CCA397563619PRPF8c.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
17g.1651120A>GCA397563616PRPF8c.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
17g.1651120A>TCA397563617PRPF8c.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
17g.1651121G>ACA8271088PRPF8c.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
17g.1651121G>CCA397563621PRPF8c.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
17g.1651121G=CA2242977640PRPF8c.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=
17g.1651121G>TCA397563622PRPF8c.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
17g.1651122T>ACA397563623PRPF8c.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
17g.1651122T>CCA397563624PRPF8c.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
17g.1651122T>GCA397563625PRPF8c.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
17g.1651123T>ACA397563627PRPF8c.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
17g.1651123T>CCA397563628PRPF8c.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
17g.1651123T>GCA397563630PRPF8c.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
17g.1651123T=CA2242977645PRPF8c.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=
17g.1651124C>ACA397563632PRPF8c.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
17g.1651124C>GCA397563633PRPF8c.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
17g.1651124C>TCA397563634PRPF8c.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
17g.1651124_1651125insTGTCGCTGCTTACACCGATAGAGTAAACCTCGCTACCCTTATTGCTATCGAAGATGTAAAGAGTCTGTGGCTCAGTAGTAGCA2523235974PRPF8c.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
17g.1651125C>ACA397563635PRPF8c.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
17g.1651125C>GCA397563638PRPF8c.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
17g.1651125C>TCA397563637PRPF8c.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
17g.1651126A>CCA397563640PRPF8c.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
17g.1651126A>GCA397563641PRPF8c.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
17g.1651126A>TCA397563642PRPF8c.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
17g.1651127C>ACA497388859PRPF8c.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
17g.1651127C=CA2242977652PRPF8c.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=
17g.1651127C>GCA497388858PRPF8c.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
17g.1651127C>TCA8271089PRPF8c.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
17g.1651128G>ACA397563643PRPF8c.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
17g.1651128G>CCA397563645PRPF8c.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
17g.1651128G=CA2242977657PRPF8c.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=
17g.1651128G>TCA397563646PRPF8c.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
17g.1651129A>CCA397563647PRPF8c.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
17g.1651129A>GCA397563648PRPF8c.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
17g.1651129A>TCA397563649PRPF8c.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
17g.1651130G>ACA497388860PRPF8c.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
17g.1651130G>CCA497388861PRPF8c.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
17g.1651130G>TCA497388862PRPF8c.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
17g.1651131G>ACA397563650PRPF8c.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
17g.1651131G>CCA397563652PRPF8c.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
17g.1651131G=CA2242977659PRPF8c.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=
17g.1651131G>TCA8271090PRPF8c.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
17g.1651132A>CCA397563655PRPF8c.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
17g.1651132A>GCA397563657PRPF8c.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
17g.1651132A>TCA397563656PRPF8c.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
17g.1651133C>ACA397563659PRPF8c.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
17g.1651133C>GCA397563660PRPF8c.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
17g.1651133C>TCA497388863PRPF8c.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
17g.1651134T>ACA397563661PRPF8c.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
17g.1651134T>CCA397563663PRPF8c.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
17g.1651134T>GCA397563664PRPF8c.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
17g.1651135G>ACA397563666PRPF8c.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
17g.1651135G>CCA397563667PRPF8c.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
17g.1651135G>TCA397563669PRPF8c.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
17g.1651136G>ACA8271091PRPF8c.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
17g.1651136G>CCA497388864PRPF8c.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
17g.1651136G=CA2242977662PRPF8c.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=
17g.1651136G>TCA497388865PRPF8c.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
17g.1651137G>ACA397563674PRPF8c.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
17g.1651137G>CCA397563673PRPF8c.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
17g.1651137G=CA2242977666PRPF8c.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=
17g.1651137G>TCA397563671PRPF8c.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
17g.1651138C>ACA397563676PRPF8c.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
17g.1651138C=CA2242977671PRPF8c.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=
17g.1651138C>GCA397563678PRPF8c.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
17g.1651138C>TCA397563679PRPF8c.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
17g.1651139A>CCA497388866PRPF8c.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
17g.1651139A>GCA497388868PRPF8c.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
17g.1651139A>TCA497388867PRPF8c.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
17g.1651140G>ACA397563680PRPF8c.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
17g.1651140G>CCA397563682PRPF8c.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
17g.1651140G=CA2242977674PRPF8c.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=
17g.1651140G>TCA397563683PRPF8c.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
17g.1651141G>ACA397563687PRPF8c.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
17g.1651141G>CCA397563686PRPF8c.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
17g.1651141G>TCA397563685PRPF8c.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
17g.1651142G>ACA286849889PRPF8c.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
17g.1651142G>CCA497388869PRPF8c.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
17g.1651142G=CA2242977681PRPF8c.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=
17g.1651142G>TCA497388870PRPF8c.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
17g.1651143A>CCA397563689PRPF8c.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
17g.1651143A>GCA397563691PRPF8c.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
17g.1651143A>TCA397563693PRPF8c.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
17g.1651144C>ACA397563694PRPF8c.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
17g.1651144C>GCA397563696PRPF8c.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
17g.1651144C>TCA397563697PRPF8c.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
17g.1651145C>ACA397563699PRPF8c.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
17g.1651145C>GCA397563701PRPF8c.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
17g.1651145C>TCA397563700PRPF8c.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
17g.1651146A=CA2242977686PRPF8c.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=
17g.1651146A>CCA397563702PRPF8c.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
17g.1651146A>GCA397563703PRPF8c.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
17g.1651146A>TCA397563704PRPF8c.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
17g.1651147T>ACA397563705PRPF8c.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
17g.1651147T>CCA397563707PRPF8c.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
17g.1651147T>GCA397563708PRPF8c.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
17g.1651148G>ACA497388871PRPF8c.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
17g.1651148G>CCA397563710PRPF8c.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
17g.1651148G>TCA397563711PRPF8c.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
17g.1651152_1651154delCA2635249017PRPF8c.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
17g.1651149A>CCA397563713PRPF8c.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
17g.1651149A>GCA397563714PRPF8c.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
17g.1651149A>TCA397563715PRPF8c.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
17g.1651150A>CCA397563717PRPF8c.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
17g.1651150A>GCA397563721PRPF8c.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
17g.1651150A>TCA397563719PRPF8c.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
17g.1651151G>ACA497388872PRPF8c.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
17g.1651151G>CCA397563722PRPF8c.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
17g.1651151G>TCA397563723PRPF8c.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
17g.1651152A=CA2242977689PRPF8c.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=
17g.1651152A>CCA8271092PRPF8c.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
17g.1651152A>GCA397563725PRPF8c.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
17g.1651152A>TCA397563726PRPF8c.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
17g.1651153A>CCA397563728PRPF8c.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
17g.1651153A>GCA397563729PRPF8c.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
17g.1651153A>TCA397563730PRPF8c.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
17g.1651154G>ACA497388873PRPF8c.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
17g.1651154G>CCA497388874PRPF8c.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
17g.1651154G>TCA497388875PRPF8c.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
17g.1651155C>ACA397563732PRPF8c.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
17g.1651155C>GCA397563734PRPF8c.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
17g.1651155C>TCA397563735PRPF8c.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
17g.1651156C>ACA397563739PRPF8c.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
17g.1651156C=CA2242977691PRPF8c.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=
17g.1651156C>GCA397563738PRPF8c.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
17g.1651156C>TCA397563737PRPF8c.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
17g.1651157A>CCA497388876PRPF8c.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
17g.1651157A>GCA497388877PRPF8c.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
17g.1651157A>TCA497388878PRPF8c.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
17g.1651158A>CCA397563741PRPF8c.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
17g.1651158A>GCA397563743PRPF8c.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
17g.1651158A>TCA397563745PRPF8c.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
17g.1651159G>ACA397563746PRPF8c.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
17g.1651159G>CCA397563747PRPF8c.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
17g.1651159G>TCA397563749PRPF8c.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
17g.1651160G>ACA8271093PRPF8c.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
17g.1651160G>CCA397563751PRPF8c.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
17g.1651160G=CA2242977698PRPF8c.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=
17g.1651160G>TCA397563753PRPF8c.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
17g.1651161A>CCA397563754PRPF8c.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
17g.1651161A>GCA397563755PRPF8c.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
17g.1651161A>TCA397563757PRPF8c.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
17g.1651162A>CCA397563760PRPF8c.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
17g.1651162A>GCA397563761PRPF8c.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
17g.1651162A>TCA397563759PRPF8c.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
17g.1651163A>CCA497388879PRPF8c.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
17g.1651163A>GCA497388880PRPF8c.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
17g.1651163A>TCA497388881PRPF8c.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
17g.1651164C>ACA397563765PRPF8c.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
17g.1651164C=CA2242977701PRPF8c.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=
17g.1651164C>GCA397563763PRPF8c.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
17g.1651164C>TCA397563766PRPF8c.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
17g.1651165G>ACA8271094PRPF8c.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
17g.1651165G>CCA397563768PRPF8c.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
17g.1651165G=CA2242977705PRPF8c.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=
17g.1651165G>TCA397563770PRPF8c.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
17g.1651166G>ACA497388882PRPF8c.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
17g.1651166G>CCA397563772PRPF8c.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
17g.1651166G=CA2242977708PRPF8c.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=
17g.1651166G>TCA397563773PRPF8c.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
17g.1651167T>ACA397563775PRPF8c.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
17g.1651167T>CCA397563776PRPF8c.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
17g.1651167T>GCA397563777PRPF8c.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
17g.1651168C>ACA397563779PRPF8c.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
17g.1651168C>GCA397563780PRPF8c.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
17g.1651168C>TCA397563781PRPF8c.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
17g.1651169C>ACA497388883PRPF8c.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
17g.1651169C=CA2242977711PRPF8c.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=
17g.1651169C>GCA497388884PRPF8c.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
17g.1651169C>TCA245637PRPF8c.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
17g.1651170G>ACA397563787PRPF8c.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
17g.1651170G>CCA397563785PRPF8c.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
17g.1651170G=CA2242977716PRPF8c.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=
17g.1651170G>TCA397563784PRPF8c.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
17g.1651171A>CCA397563789PRPF8c.6610T>G (p.Ser2204Ala)
c.2538T>G
c.*6513T>G (n.*6513T>G)
n.3104T>G
c.6643T>G (p.Ser2215Ala)
c.6655T>G (p.Ser2219Ala)
c.6790T>G (p.Ser2264Ala)
c.99T>G
n.779T>G
17g.1651171A>GCA397563790PRPF8c.6610T>C (p.Ser2204Pro)
c.2538T>C
c.*6513T>C (n.*6513T>C)
n.3104T>C
c.6643T>C (p.Ser2215Pro)
c.6655T>C (p.Ser2219Pro)
c.6790T>C (p.Ser2264Pro)
c.99T>C
n.779T>C
17g.1651171A>TCA397563792PRPF8c.6610T>A (p.Ser2204Thr)
c.2538T>A
c.*6513T>A (n.*6513T>A)
n.3104T>A
c.6643T>A (p.Ser2215Thr)
c.6655T>A (p.Ser2219Thr)
c.6790T>A (p.Ser2264Thr)
c.99T>A
n.779T>A
17g.1651172C>ACA497388885PRPF8c.6609G>T (p.Leu2203=)
c.2537G>T
c.*6512G>T (n.*6512G>T)
n.3103G>T
c.6642G>T (p.Leu2214=)
c.6654G>T (p.Leu2218=)
c.6789G>T (p.Leu2263=)
c.98G>T
n.778G>T
17g.1651172C>GCA497388886PRPF8c.6609G>C (p.Leu2203=)
c.2537G>C
c.*6512G>C (n.*6512G>C)
n.3103G>C
c.6642G>C (p.Leu2214=)
c.6654G>C (p.Leu2218=)
c.6789G>C (p.Leu2263=)
c.98G>C
n.778G>C
17g.1651172C>TCA497388887PRPF8c.6609G>A (p.Leu2203=)
c.2537G>A
c.*6512G>A (n.*6512G>A)
n.3103G>A
c.6642G>A (p.Leu2214=)
c.6654G>A (p.Leu2218=)
c.6789G>A (p.Leu2263=)
c.98G>A
n.778G>A
 gnomAD v4
17g.1651173A>CCA397563793PRPF8c.6608T>G (p.Leu2203Arg)
c.2536T>G
c.*6511T>G (n.*6511T>G)
n.3102T>G
c.6641T>G (p.Leu2214Arg)
c.6653T>G (p.Leu2218Arg)
c.6788T>G (p.Leu2263Arg)
c.97T>G
n.777T>G
17g.1651173A>GCA397563795PRPF8c.6608T>C (p.Leu2203Pro)
c.2536T>C
c.*6511T>C (n.*6511T>C)
n.3102T>C
c.6641T>C (p.Leu2214Pro)
c.6653T>C (p.Leu2218Pro)
c.6788T>C (p.Leu2263Pro)
c.97T>C
n.777T>C
17g.1651173A>TCA397563796PRPF8c.6608T>A (p.Leu2203Gln)
c.2536T>A
c.*6511T>A (n.*6511T>A)
n.3102T>A
c.6641T>A (p.Leu2214Gln)
c.6653T>A (p.Leu2218Gln)
c.6788T>A (p.Leu2263Gln)
c.97T>A
n.777T>A
17g.1651174G>ACA8271095PRPF8c.6607C>T (p.Leu2203=)
c.2535C>T
c.*6510C>T (n.*6510C>T)
n.3101C>T
c.6640C>T (p.Leu2214=)
c.6652C>T (p.Leu2218=)
c.6787C>T (p.Leu2263=)
c.96C>T
n.776C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.1651174G>CCA397563798PRPF8c.6607C>G (p.Leu2203Val)
c.2535C>G
c.*6510C>G (n.*6510C>G)
n.3101C>G
c.6640C>G (p.Leu2214Val)
c.6652C>G (p.Leu2218Val)
c.6787C>G (p.Leu2263Val)
c.96C>G
n.776C>G
 dbSNP gnomAD v2 gnomAD v4
17g.1651174G=CA2242977718PRPF8c.6607C= (p.Leu2203=)
c.2535C=
c.*6510C= (n.*6510C=)
n.3101C=
c.6640C= (p.Leu2214=)
c.6652C= (p.Leu2218=)
c.6787C= (p.Leu2263=)
c.96C=
n.776C=
17g.1651174G>TCA397563800PRPF8c.6607C>A (p.Leu2203Met)
c.2535C>A
c.*6510C>A (n.*6510C>A)
n.3101C>A
c.6640C>A (p.Leu2214Met)
c.6652C>A (p.Leu2218Met)
c.6787C>A (p.Leu2263Met)
c.96C>A
n.776C>A
17g.1651175C>ACA8271096PRPF8c.6606G>T (p.Leu2202=)
c.2534G>T
c.*6509G>T (n.*6509G>T)
n.3100G>T
c.6639G>T (p.Leu2213=)
c.6651G>T (p.Leu2217=)
c.6786G>T (p.Leu2262=)
c.95G>T
n.775G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1651175C=CA2242977722PRPF8c.6606G= (p.Leu2202=)
c.2534G=
c.*6509G= (n.*6509G=)
n.3100G=
c.6639G= (p.Leu2213=)
c.6651G= (p.Leu2217=)
c.6786G= (p.Leu2262=)
c.95G=
n.775G=
17g.1651175C>GCA497388889PRPF8c.6606G>C (p.Leu2202=)
c.2534G>C
c.*6509G>C (n.*6509G>C)
n.3100G>C
c.6639G>C (p.Leu2213=)
c.6651G>C (p.Leu2217=)
c.6786G>C (p.Leu2262=)
c.95G>C
n.775G>C
17g.1651175C>TCA497388888PRPF8c.6606G>A (p.Leu2202=)
c.2534G>A
c.*6509G>A (n.*6509G>A)
n.3100G>A
c.6639G>A (p.Leu2213=)
c.6651G>A (p.Leu2217=)
c.6786G>A (p.Leu2262=)
c.95G>A
n.775G>A
 ClinVar dbSNP gnomAD v4
17g.1651176A>CCA397563802PRPF8c.6605T>G (p.Leu2202Arg)
c.2533T>G
c.*6508T>G (n.*6508T>G)
n.3099T>G
c.6638T>G (p.Leu2213Arg)
c.6650T>G (p.Leu2217Arg)
c.6785T>G (p.Leu2262Arg)
c.94T>G
n.774T>G
17g.1651176A>GCA397563804PRPF8c.6605T>C (p.Leu2202Pro)
c.2533T>C
c.*6508T>C (n.*6508T>C)
n.3099T>C
c.6638T>C (p.Leu2213Pro)
c.6650T>C (p.Leu2217Pro)
c.6785T>C (p.Leu2262Pro)
c.94T>C
n.774T>C
17g.1651176A>TCA397563805PRPF8c.6605T>A (p.Leu2202Gln)
c.2533T>A
c.*6508T>A (n.*6508T>A)
n.3099T>A
c.6638T>A (p.Leu2213Gln)
c.6650T>A (p.Leu2217Gln)
c.6785T>A (p.Leu2262Gln)
c.94T>A
n.774T>A
17g.1651177delCA2635249022PRPF8c.6604del (p.Leu2202CysfsTer?)
c.2532del
c.*6507del (n.*6507del)
n.3098del
c.6637del (p.Leu2213CysfsTer?)
c.6649del (p.Leu2217CysfsTer?)
c.6784del (p.Leu2262CysfsTer?)
c.93del
n.773del
 gnomAD v4
17g.1651177G>ACA497388890PRPF8c.6604C>T (p.Leu2202=)
c.2532C>T
c.*6507C>T (n.*6507C>T)
n.3098C>T
c.6637C>T (p.Leu2213=)
c.6649C>T (p.Leu2217=)
c.6784C>T (p.Leu2262=)
c.93C>T
n.773C>T
17g.1651177G>CCA397563806PRPF8c.6604C>G (p.Leu2202Val)
c.2532C>G
c.*6507C>G (n.*6507C>G)
n.3098C>G
c.6637C>G (p.Leu2213Val)
c.6649C>G (p.Leu2217Val)
c.6784C>G (p.Leu2262Val)
c.93C>G
n.773C>G
17g.1651177G>TCA397563808PRPF8c.6604C>A (p.Leu2202Met)
c.2532C>A
c.*6507C>A (n.*6507C>A)
n.3098C>A
c.6637C>A (p.Leu2213Met)
c.6649C>A (p.Leu2217Met)
c.6784C>A (p.Leu2262Met)
c.93C>A
n.773C>A
17g.1651178C>ACA397563809PRPF8c.6603G>T (p.Met2201Ile)
c.2531G>T
c.*6506G>T (n.*6506G>T)
n.3097G>T
c.6636G>T (p.Met2212Ile)
c.6648G>T (p.Met2216Ile)
c.6783G>T (p.Met2261Ile)
c.92G>T
n.772G>T
17g.1651178C=CA2242977729PRPF8c.6603G= (p.Met2201=)
c.2531G=
c.*6506G= (n.*6506G=)
n.3097G=
c.6636G= (p.Met2212=)
c.6648G= (p.Met2216=)
c.6783G= (p.Met2261=)
c.92G=
n.772G=
17g.1651178C>GCA397563813PRPF8c.6603G>C (p.Met2201Ile)
c.2531G>C
c.*6506G>C (n.*6506G>C)
n.3097G>C
c.6636G>C (p.Met2212Ile)
c.6648G>C (p.Met2216Ile)
c.6783G>C (p.Met2261Ile)
c.92G>C
n.772G>C
17g.1651178C>TCA10638980PRPF8c.6603G>A (p.Met2201Ile)
c.2531G>A
c.*6506G>A (n.*6506G>A)
n.3097G>A
c.6636G>A (p.Met2212Ile)
c.6648G>A (p.Met2216Ile)
c.6783G>A (p.Met2261Ile)
c.92G>A
n.772G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.1651179A>CCA397563816PRPF8c.6602T>G (p.Met2201Arg)
c.2530T>G
c.*6505T>G (n.*6505T>G)
n.3096T>G
c.6635T>G (p.Met2212Arg)
c.6647T>G (p.Met2216Arg)
c.6782T>G (p.Met2261Arg)
c.91T>G
n.771T>G
17g.1651179A>GCA397563818PRPF8c.6602T>C (p.Met2201Thr)
c.2530T>C
c.*6505T>C (n.*6505T>C)
n.3096T>C
c.6635T>C (p.Met2212Thr)
c.6647T>C (p.Met2216Thr)
c.6782T>C (p.Met2261Thr)
c.91T>C
n.771T>C
17g.1651179A>TCA397563820PRPF8c.6602T>A (p.Met2201Lys)
c.2530T>A
c.*6505T>A (n.*6505T>A)
n.3096T>A
c.6635T>A (p.Met2212Lys)
c.6647T>A (p.Met2216Lys)
c.6782T>A (p.Met2261Lys)
c.91T>A
n.771T>A
17g.1651180T>ACA397563822PRPF8c.6601A>T (p.Met2201Leu)
c.2529A>T
c.*6504A>T (n.*6504A>T)
n.3095A>T
c.6634A>T (p.Met2212Leu)
c.6646A>T (p.Met2216Leu)
c.6781A>T (p.Met2261Leu)
c.90A>T
n.770A>T
 gnomAD v4
17g.1651180T>CCA397563823PRPF8c.6601A>G (p.Met2201Val)
c.2529A>G
c.*6504A>G (n.*6504A>G)
n.3095A>G
c.6634A>G (p.Met2212Val)
c.6646A>G (p.Met2216Val)
c.6781A>G (p.Met2261Val)
c.90A>G
n.770A>G
17g.1651180T>GCA397563824PRPF8c.6601A>C (p.Met2201Leu)
c.2529A>C
c.*6504A>C (n.*6504A>C)
n.3095A>C
c.6634A>C (p.Met2212Leu)
c.6646A>C (p.Met2216Leu)
c.6781A>C (p.Met2261Leu)
c.90A>C
n.770A>C
17g.1651180_1651181delinsTCCA2242977733PRPF8c.6600_6601delinsGA (p.Gln2200=)
c.2528_2529delinsGA
c.*6503_*6504delinsGA (n.*6503_*6504delinsGA)
n.3094_3095delinsGA
c.6633_6634delinsGA (p.Gln2211=)
c.6645_6646delinsGA (p.Gln2215=)
c.6780_6781delinsGA (p.Gln2260=)
c.89_90delinsGA
n.769_770delinsGA
17g.1651181delCA8271097PRPF8c.6600del (p.Met2201CysfsTer?)
c.2528del
c.*6503del (n.*6503del)
n.3094del
c.6633del (p.Met2212CysfsTer?)
c.6645del (p.Met2216CysfsTer?)
c.6780del (p.Met2261CysfsTer?)
c.89del
n.769del
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.1651181C>ACA397563826PRPF8c.6600G>T (p.Gln2200His)
c.2528G>T
c.*6503G>T (n.*6503G>T)
n.3094G>T
c.6633G>T (p.Gln2211His)
c.6645G>T (p.Gln2215His)
c.6780G>T (p.Gln2260His)
c.89G>T
n.769G>T
17g.1651181C>GCA397563827PRPF8c.6600G>C (p.Gln2200His)
c.2528G>C
c.*6503G>C (n.*6503G>C)
n.3094G>C
c.6633G>C (p.Gln2211His)
c.6645G>C (p.Gln2215His)
c.6780G>C (p.Gln2260His)
c.89G>C
n.769G>C
17g.1651181C>TCA497388891PRPF8c.6600G>A (p.Gln2200=)
c.2528G>A
c.*6503G>A (n.*6503G>A)
n.3094G>A
c.6633G>A (p.Gln2211=)
c.6645G>A (p.Gln2215=)
c.6780G>A (p.Gln2260=)
c.89G>A
n.769G>A
17g.1651182T>ACA397563831PRPF8c.6599A>T (p.Gln2200Leu)
c.2527A>T
c.*6502A>T (n.*6502A>T)
n.3093A>T
c.6632A>T (p.Gln2211Leu)
c.6644A>T (p.Gln2215Leu)
c.6779A>T (p.Gln2260Leu)
c.88A>T
n.768A>T
17g.1651182T>CCA397563833PRPF8c.6599A>G (p.Gln2200Arg)
c.2527A>G
c.*6502A>G (n.*6502A>G)
n.3093A>G
c.6632A>G (p.Gln2211Arg)
c.6644A>G (p.Gln2215Arg)
c.6779A>G (p.Gln2260Arg)
c.88A>G
n.768A>G
17g.1651182T>GCA397563830PRPF8c.6599A>C (p.Gln2200Pro)
c.2527A>C
c.*6502A>C (n.*6502A>C)
n.3093A>C
c.6632A>C (p.Gln2211Pro)
c.6644A>C (p.Gln2215Pro)
c.6779A>C (p.Gln2260Pro)
c.88A>C
n.768A>C

Number of alleles fetched