Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
17g.1651183G>ACA397563834PRPF8c.6598C>T (p.Gln2200Ter)
c.2526C>T
c.*6501C>T (n.*6501C>T)
n.3092C>T
c.6631C>T (p.Gln2211Ter)
c.6643C>T (p.Gln2215Ter)
c.6778C>T (p.Gln2260Ter)
c.87C>T
n.767C>T
 ClinVar
17g.1651183G>CCA397563836PRPF8c.6598C>G (p.Gln2200Glu)
c.2526C>G
c.*6501C>G (n.*6501C>G)
n.3092C>G
c.6631C>G (p.Gln2211Glu)
c.6643C>G (p.Gln2215Glu)
c.6778C>G (p.Gln2260Glu)
c.87C>G
n.767C>G
17g.1651183G>TCA397563837PRPF8c.6598C>A (p.Gln2200Lys)
c.2526C>A
c.*6501C>A (n.*6501C>A)
n.3092C>A
c.6631C>A (p.Gln2211Lys)
c.6643C>A (p.Gln2215Lys)
c.6778C>A (p.Gln2260Lys)
c.87C>A
n.767C>A
17g.1651184C>ACA497388892PRPF8c.6597G>T (p.Val2199=)
c.2525G>T
c.*6500G>T (n.*6500G>T)
n.3091G>T
c.6630G>T (p.Val2210=)
c.6642G>T (p.Val2214=)
c.6777G>T (p.Val2259=)
c.86G>T
n.766G>T
17g.1651184C>GCA497388893PRPF8c.6597G>C (p.Val2199=)
c.2525G>C
c.*6500G>C (n.*6500G>C)
n.3091G>C
c.6630G>C (p.Val2210=)
c.6642G>C (p.Val2214=)
c.6777G>C (p.Val2259=)
c.86G>C
n.766G>C
17g.1651184C>TCA497388894PRPF8c.6597G>A (p.Val2199=)
c.2525G>A
c.*6500G>A (n.*6500G>A)
n.3091G>A
c.6630G>A (p.Val2210=)
c.6642G>A (p.Val2214=)
c.6777G>A (p.Val2259=)
c.86G>A
n.766G>A
17g.1651185A>CCA397563839PRPF8c.6596T>G (p.Val2199Gly)
c.2524T>G
c.*6499T>G (n.*6499T>G)
n.3090T>G
c.6629T>G (p.Val2210Gly)
c.6641T>G (p.Val2214Gly)
c.6776T>G (p.Val2259Gly)
c.85T>G
n.765T>G
17g.1651185A>GCA397563840PRPF8c.6596T>C (p.Val2199Ala)
c.2524T>C
c.*6499T>C (n.*6499T>C)
n.3090T>C
c.6629T>C (p.Val2210Ala)
c.6641T>C (p.Val2214Ala)
c.6776T>C (p.Val2259Ala)
c.85T>C
n.765T>C
17g.1651185A>TCA397563842PRPF8c.6596T>A (p.Val2199Glu)
c.2524T>A
c.*6499T>A (n.*6499T>A)
n.3090T>A
c.6629T>A (p.Val2210Glu)
c.6641T>A (p.Val2214Glu)
c.6776T>A (p.Val2259Glu)
c.85T>A
n.765T>A
17g.1651186C>ACA397563843PRPF8c.6595G>T (p.Val2199Leu)
c.2523G>T
c.*6498G>T (n.*6498G>T)
n.3089G>T
c.6628G>T (p.Val2210Leu)
c.6640G>T (p.Val2214Leu)
c.6775G>T (p.Val2259Leu)
c.84G>T
n.764G>T
 dbSNP gnomAD v3 gnomAD v4
17g.1651186C=CA2242977737PRPF8c.6595G= (p.Val2199=)
c.2523G=
c.*6498G= (n.*6498G=)
n.3089G=
c.6628G= (p.Val2210=)
c.6640G= (p.Val2214=)
c.6775G= (p.Val2259=)
c.84G=
n.764G=
17g.1651186C>GCA397563847PRPF8c.6595G>C (p.Val2199Leu)
c.2523G>C
c.*6498G>C (n.*6498G>C)
n.3089G>C
c.6628G>C (p.Val2210Leu)
c.6640G>C (p.Val2214Leu)
c.6775G>C (p.Val2259Leu)
c.84G>C
n.764G>C
17g.1651186C>TCA397563845PRPF8c.6595G>A (p.Val2199Met)
c.2523G>A
c.*6498G>A (n.*6498G>A)
n.3089G>A
c.6628G>A (p.Val2210Met)
c.6640G>A (p.Val2214Met)
c.6775G>A (p.Val2259Met)
c.84G>A
n.764G>A
17g.1651187C>ACA397563848PRPF8c.6594G>T (p.Arg2198Ser)
c.2522G>T
c.*6497G>T (n.*6497G>T)
n.3088G>T
c.6627G>T (p.Arg2209Ser)
c.6639G>T (p.Arg2213Ser)
c.6774G>T (p.Arg2258Ser)
c.83G>T
n.763G>T
17g.1651187C=CA2242977740PRPF8c.6594G= (p.Arg2198=)
c.2522G=
c.*6497G= (n.*6497G=)
n.3088G=
c.6627G= (p.Arg2209=)
c.6639G= (p.Arg2213=)
c.6774G= (p.Arg2258=)
c.83G=
n.763G=
17g.1651187C>GCA397563850PRPF8c.6594G>C (p.Arg2198Ser)
c.2522G>C
c.*6497G>C (n.*6497G>C)
n.3088G>C
c.6627G>C (p.Arg2209Ser)
c.6639G>C (p.Arg2213Ser)
c.6774G>C (p.Arg2258Ser)
c.83G>C
n.763G>C
17g.1651187C>TCA497388895PRPF8c.6594G>A (p.Arg2198=)
c.2522G>A
c.*6497G>A (n.*6497G>A)
n.3088G>A
c.6627G>A (p.Arg2209=)
c.6639G>A (p.Arg2213=)
c.6774G>A (p.Arg2258=)
c.83G>A
n.763G>A
 dbSNP
17g.1651188C>ACA397563852PRPF8c.6593G>T (p.Arg2198Met)
c.2521G>T
c.*6496G>T (n.*6496G>T)
n.3087G>T
c.6626G>T (p.Arg2209Met)
c.6638G>T (p.Arg2213Met)
c.6773G>T (p.Arg2258Met)
c.82G>T
n.762G>T
17g.1651188C>GCA397563853PRPF8c.6593G>C (p.Arg2198Thr)
c.2521G>C
c.*6496G>C (n.*6496G>C)
n.3087G>C
c.6626G>C (p.Arg2209Thr)
c.6638G>C (p.Arg2213Thr)
c.6773G>C (p.Arg2258Thr)
c.82G>C
n.762G>C
17g.1651188C>TCA397563855PRPF8c.6593G>A (p.Arg2198Lys)
c.2521G>A
c.*6496G>A (n.*6496G>A)
n.3087G>A
c.6626G>A (p.Arg2209Lys)
c.6638G>A (p.Arg2213Lys)
c.6773G>A (p.Arg2258Lys)
c.82G>A
n.762G>A
17g.1651189T>ACA397563856PRPF8c.6592A>T (p.Arg2198Trp)
c.2520A>T
c.*6495A>T (n.*6495A>T)
n.3086A>T
c.6625A>T (p.Arg2209Trp)
c.6637A>T (p.Arg2213Trp)
c.6772A>T (p.Arg2258Trp)
c.81A>T
n.761A>T
17g.1651189T>CCA397563857PRPF8c.6592A>G (p.Arg2198Gly)
c.2520A>G
c.*6495A>G (n.*6495A>G)
n.3086A>G
c.6625A>G (p.Arg2209Gly)
c.6637A>G (p.Arg2213Gly)
c.6772A>G (p.Arg2258Gly)
c.81A>G
n.761A>G
17g.1651189T>GCA497388896PRPF8c.6592A>C (p.Arg2198=)
c.2520A>C
c.*6495A>C (n.*6495A>C)
n.3086A>C
c.6625A>C (p.Arg2209=)
c.6637A>C (p.Arg2213=)
c.6772A>C (p.Arg2258=)
c.81A>C
n.761A>C
17g.1651190C>ACA397563859PRPF8c.6591G>T (p.Glu2197Asp)
c.2519G>T
c.*6494G>T (n.*6494G>T)
n.3085G>T
c.6624G>T (p.Glu2208Asp)
c.6636G>T (p.Glu2212Asp)
c.6771G>T (p.Glu2257Asp)
c.80G>T
n.760G>T
17g.1651190C>GCA397563860PRPF8c.6591G>C (p.Glu2197Asp)
c.2519G>C
c.*6494G>C (n.*6494G>C)
n.3085G>C
c.6624G>C (p.Glu2208Asp)
c.6636G>C (p.Glu2212Asp)
c.6771G>C (p.Glu2257Asp)
c.80G>C
n.760G>C
 COSMIC
17g.1651190C>TCA497388897PRPF8c.6591G>A (p.Glu2197=)
c.2519G>A
c.*6494G>A (n.*6494G>A)
n.3085G>A
c.6624G>A (p.Glu2208=)
c.6636G>A (p.Glu2212=)
c.6771G>A (p.Glu2257=)
c.80G>A
n.760G>A
17g.1651191T>ACA397563862PRPF8c.6590A>T (p.Glu2197Val)
c.2518A>T
c.*6493A>T (n.*6493A>T)
n.3084A>T
c.6623A>T (p.Glu2208Val)
c.6635A>T (p.Glu2212Val)
c.6770A>T (p.Glu2257Val)
c.79A>T
n.759A>T
17g.1651191T>CCA397563864PRPF8c.6590A>G (p.Glu2197Gly)
c.2518A>G
c.*6493A>G (n.*6493A>G)
n.3084A>G
c.6623A>G (p.Glu2208Gly)
c.6635A>G (p.Glu2212Gly)
c.6770A>G (p.Glu2257Gly)
c.79A>G
n.759A>G
17g.1651191T>GCA397563865PRPF8c.6590A>C (p.Glu2197Ala)
c.2518A>C
c.*6493A>C (n.*6493A>C)
n.3084A>C
c.6623A>C (p.Glu2208Ala)
c.6635A>C (p.Glu2212Ala)
c.6770A>C (p.Glu2257Ala)
c.79A>C
n.759A>C
17g.1651192C>ACA397563870PRPF8c.6589G>T (p.Glu2197Ter)
c.2517G>T
c.*6492G>T (n.*6492G>T)
n.3083G>T
c.6622G>T (p.Glu2208Ter)
c.6634G>T (p.Glu2212Ter)
c.6769G>T (p.Glu2257Ter)
c.78G>T
n.758G>T
17g.1651192C>GCA397563868PRPF8c.6589G>C (p.Glu2197Gln)
c.2517G>C
c.*6492G>C (n.*6492G>C)
n.3083G>C
c.6622G>C (p.Glu2208Gln)
c.6634G>C (p.Glu2212Gln)
c.6769G>C (p.Glu2257Gln)
c.78G>C
n.758G>C
17g.1651192C>TCA397563866PRPF8c.6589G>A (p.Glu2197Lys)
c.2517G>A
c.*6492G>A (n.*6492G>A)
n.3083G>A
c.6622G>A (p.Glu2208Lys)
c.6634G>A (p.Glu2212Lys)
c.6769G>A (p.Glu2257Lys)
c.78G>A
n.758G>A
17g.1651193A=CA2242977744PRPF8c.6588T= (p.Tyr2196=)
c.2516T=
c.*6491T= (n.*6491T=)
n.3082T=
c.6621T= (p.Tyr2207=)
c.6633T= (p.Tyr2211=)
c.6768T= (p.Tyr2256=)
c.77T=
n.757T=
17g.1651193A>CCA397563871PRPF8c.6588T>G (p.Tyr2196Ter)
c.2516T>G
c.*6491T>G (n.*6491T>G)
n.3082T>G
c.6621T>G (p.Tyr2207Ter)
c.6633T>G (p.Tyr2211Ter)
c.6768T>G (p.Tyr2256Ter)
c.77T>G
n.757T>G
 gnomAD v4
17g.1651193A>GCA8271098PRPF8c.6588T>C (p.Tyr2196=)
c.2516T>C
c.*6491T>C (n.*6491T>C)
n.3082T>C
c.6621T>C (p.Tyr2207=)
c.6633T>C (p.Tyr2211=)
c.6768T>C (p.Tyr2256=)
c.77T>C
n.757T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1651193A>TCA397563873PRPF8c.6588T>A (p.Tyr2196Ter)
c.2516T>A
c.*6491T>A (n.*6491T>A)
n.3082T>A
c.6621T>A (p.Tyr2207Ter)
c.6633T>A (p.Tyr2211Ter)
c.6768T>A (p.Tyr2256Ter)
c.77T>A
n.757T>A
17g.1651194T>ACA8271099PRPF8c.6587A>T (p.Tyr2196Phe)
c.2515A>T
c.*6490A>T (n.*6490A>T)
n.3081A>T
c.6620A>T (p.Tyr2207Phe)
c.6632A>T (p.Tyr2211Phe)
c.6767A>T (p.Tyr2256Phe)
c.76A>T
n.756A>T
 dbSNP ExAC gnomAD v2
17g.1651194T>CCA397563876PRPF8c.6587A>G (p.Tyr2196Cys)
c.2515A>G
c.*6490A>G (n.*6490A>G)
n.3081A>G
c.6620A>G (p.Tyr2207Cys)
c.6632A>G (p.Tyr2211Cys)
c.6767A>G (p.Tyr2256Cys)
c.76A>G
n.756A>G
 dbSNP gnomAD v2 gnomAD v4
17g.1651194T>GCA397563877PRPF8c.6587A>C (p.Tyr2196Ser)
c.2515A>C
c.*6490A>C (n.*6490A>C)
n.3081A>C
c.6620A>C (p.Tyr2207Ser)
c.6632A>C (p.Tyr2211Ser)
c.6767A>C (p.Tyr2256Ser)
c.76A>C
n.756A>C
17g.1651194T=CA2242977749PRPF8c.6587A= (p.Tyr2196=)
c.2515A=
c.*6490A= (n.*6490A=)
n.3081A=
c.6620A= (p.Tyr2207=)
c.6632A= (p.Tyr2211=)
c.6767A= (p.Tyr2256=)
c.76A=
n.756A=
17g.1651195A=CA2242977751PRPF8c.6586T= (p.Tyr2196=)
c.2514T=
c.*6489T= (n.*6489T=)
n.3080T=
c.6619T= (p.Tyr2207=)
c.6631T= (p.Tyr2211=)
c.6766T= (p.Tyr2256=)
c.75T=
n.755T=
17g.1651195A>CCA397563882PRPF8c.6586T>G (p.Tyr2196Asp)
c.2514T>G
c.*6489T>G (n.*6489T>G)
n.3080T>G
c.6619T>G (p.Tyr2207Asp)
c.6631T>G (p.Tyr2211Asp)
c.6766T>G (p.Tyr2256Asp)
c.75T>G
n.755T>G
17g.1651195A>GCA397563879PRPF8c.6586T>C (p.Tyr2196His)
c.2514T>C
c.*6489T>C (n.*6489T>C)
n.3080T>C
c.6619T>C (p.Tyr2207His)
c.6631T>C (p.Tyr2211His)
c.6766T>C (p.Tyr2256His)
c.75T>C
n.755T>C
 dbSNP gnomAD v2 gnomAD v4
17g.1651195A>TCA397563880PRPF8c.6586T>A (p.Tyr2196Asn)
c.2514T>A
c.*6489T>A (n.*6489T>A)
n.3080T>A
c.6619T>A (p.Tyr2207Asn)
c.6631T>A (p.Tyr2211Asn)
c.6766T>A (p.Tyr2256Asn)
c.75T>A
n.755T>A
17g.1651196G>ACA497388898PRPF8c.6585C>T (p.His2195=)
c.2513C>T
c.*6488C>T (n.*6488C>T)
n.3079C>T
c.6618C>T (p.His2206=)
c.6630C>T (p.His2210=)
c.6765C>T (p.His2255=)
c.74C>T
n.754C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.1651196G>CCA397563883PRPF8c.6585C>G (p.His2195Gln)
c.2513C>G
c.*6488C>G (n.*6488C>G)
n.3079C>G
c.6618C>G (p.His2206Gln)
c.6630C>G (p.His2210Gln)
c.6765C>G (p.His2255Gln)
c.74C>G
n.754C>G
17g.1651196G=CA2242977754PRPF8c.6585C= (p.His2195=)
c.2513C=
c.*6488C= (n.*6488C=)
n.3079C=
c.6618C= (p.His2206=)
c.6630C= (p.His2210=)
c.6765C= (p.His2255=)
c.74C=
n.754C=
17g.1651196G>TCA397563885PRPF8c.6585C>A (p.His2195Gln)
c.2513C>A
c.*6488C>A (n.*6488C>A)
n.3079C>A
c.6618C>A (p.His2206Gln)
c.6630C>A (p.His2210Gln)
c.6765C>A (p.His2255Gln)
c.74C>A
n.754C>A
17g.1651197T>ACA397563886PRPF8c.6584A>T (p.His2195Leu)
c.2512A>T
c.*6487A>T (n.*6487A>T)
n.3078A>T
c.6617A>T (p.His2206Leu)
c.6629A>T (p.His2210Leu)
c.6764A>T (p.His2255Leu)
c.73A>T
n.753A>T
17g.1651197T>CCA397563887PRPF8c.6584A>G (p.His2195Arg)
c.2512A>G
c.*6487A>G (n.*6487A>G)
n.3078A>G
c.6617A>G (p.His2206Arg)
c.6629A>G (p.His2210Arg)
c.6764A>G (p.His2255Arg)
c.73A>G
n.753A>G
17g.1651197T>GCA397563889PRPF8c.6584A>C (p.His2195Pro)
c.2512A>C
c.*6487A>C (n.*6487A>C)
n.3078A>C
c.6617A>C (p.His2206Pro)
c.6629A>C (p.His2210Pro)
c.6764A>C (p.His2255Pro)
c.73A>C
n.753A>C
17g.1651198G>ACA397563891PRPF8c.6583C>T (p.His2195Tyr)
c.2511C>T
c.*6486C>T (n.*6486C>T)
n.3077C>T
c.6616C>T (p.His2206Tyr)
c.6628C>T (p.His2210Tyr)
c.6763C>T (p.His2255Tyr)
c.72C>T
n.752C>T
17g.1651198G>CCA397563893PRPF8c.6583C>G (p.His2195Asp)
c.2511C>G
c.*6486C>G (n.*6486C>G)
n.3077C>G
c.6616C>G (p.His2206Asp)
c.6628C>G (p.His2210Asp)
c.6763C>G (p.His2255Asp)
c.72C>G
n.752C>G
17g.1651198G>TCA397563894PRPF8c.6583C>A (p.His2195Asn)
c.2511C>A
c.*6486C>A (n.*6486C>A)
n.3077C>A
c.6616C>A (p.His2206Asn)
c.6628C>A (p.His2210Asn)
c.6763C>A (p.His2255Asn)
c.72C>A
n.752C>A
17g.1651199T>ACA8271101PRPF8c.6582A>T (p.Ser2194=)
c.2510A>T
c.*6485A>T (n.*6485A>T)
n.3076A>T
c.6615A>T (p.Ser2205=)
c.6627A>T (p.Ser2209=)
c.6762A>T (p.Ser2254=)
c.71A>T
n.751A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1651199T>CCA497388899PRPF8c.6582A>G (p.Ser2194=)
c.2510A>G
c.*6485A>G (n.*6485A>G)
n.3076A>G
c.6615A>G (p.Ser2205=)
c.6627A>G (p.Ser2209=)
c.6762A>G (p.Ser2254=)
c.71A>G
n.751A>G
17g.1651199T>GCA8271100PRPF8c.6582A>C (p.Ser2194=)
c.2510A>C
c.*6485A>C (n.*6485A>C)
n.3076A>C
c.6615A>C (p.Ser2205=)
c.6627A>C (p.Ser2209=)
c.6762A>C (p.Ser2254=)
c.71A>C
n.751A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1651199T=CA2242977760PRPF8c.6582A= (p.Ser2194=)
c.2510A=
c.*6485A= (n.*6485A=)
n.3076A=
c.6615A= (p.Ser2205=)
c.6627A= (p.Ser2209=)
c.6762A= (p.Ser2254=)
c.71A=
n.751A=
17g.1651200G>ACA397563897PRPF8c.6581C>T (p.Ser2194Leu)
c.2509C>T
c.*6484C>T (n.*6484C>T)
n.3075C>T
c.6614C>T (p.Ser2205Leu)
c.6626C>T (p.Ser2209Leu)
c.6761C>T (p.Ser2254Leu)
c.70C>T
n.750C>T
17g.1651200G>CCA397563899PRPF8c.6581C>G (p.Ser2194Ter)
c.2509C>G
c.*6484C>G (n.*6484C>G)
n.3075C>G
c.6614C>G (p.Ser2205Ter)
c.6626C>G (p.Ser2209Ter)
c.6761C>G (p.Ser2254Ter)
c.70C>G
n.750C>G
17g.1651200G>TCA397563900PRPF8c.6581C>A (p.Ser2194Ter)
c.2509C>A
c.*6484C>A (n.*6484C>A)
n.3075C>A
c.6614C>A (p.Ser2205Ter)
c.6626C>A (p.Ser2209Ter)
c.6761C>A (p.Ser2254Ter)
c.70C>A
n.750C>A
17g.1651201A>CCA397563901PRPF8c.6580T>G (p.Ser2194Ala)
c.2508T>G
c.*6483T>G (n.*6483T>G)
n.3074T>G
c.6613T>G (p.Ser2205Ala)
c.6625T>G (p.Ser2209Ala)
c.6760T>G (p.Ser2254Ala)
c.69T>G
n.749T>G
17g.1651201A>GCA397563905PRPF8c.6580T>C (p.Ser2194Pro)
c.2508T>C
c.*6483T>C (n.*6483T>C)
n.3074T>C
c.6613T>C (p.Ser2205Pro)
c.6625T>C (p.Ser2209Pro)
c.6760T>C (p.Ser2254Pro)
c.69T>C
n.749T>C
17g.1651201A>TCA397563903PRPF8c.6580T>A (p.Ser2194Thr)
c.2508T>A
c.*6483T>A (n.*6483T>A)
n.3074T>A
c.6613T>A (p.Ser2205Thr)
c.6625T>A (p.Ser2209Thr)
c.6760T>A (p.Ser2254Thr)
c.69T>A
n.749T>A
17g.1651202A=CA2242977765PRPF8c.6579T= (p.Pro2193=)
c.2507T=
c.*6482T= (n.*6482T=)
n.3073T=
c.6612T= (p.Pro2204=)
c.6624T= (p.Pro2208=)
c.6759T= (p.Pro2253=)
c.68T=
n.748T=
17g.1651202A>CCA497388900PRPF8c.6579T>G (p.Pro2193=)
c.2507T>G
c.*6482T>G (n.*6482T>G)
n.3073T>G
c.6612T>G (p.Pro2204=)
c.6624T>G (p.Pro2208=)
c.6759T>G (p.Pro2253=)
c.68T>G
n.748T>G
17g.1651202A>GCA286849958PRPF8c.6579T>C (p.Pro2193=)
c.2507T>C
c.*6482T>C (n.*6482T>C)
n.3073T>C
c.6612T>C (p.Pro2204=)
c.6624T>C (p.Pro2208=)
c.6759T>C (p.Pro2253=)
c.68T>C
n.748T>C
 dbSNP gnomAD v4
17g.1651202A>TCA497388901PRPF8c.6579T>A (p.Pro2193=)
c.2507T>A
c.*6482T>A (n.*6482T>A)
n.3073T>A
c.6612T>A (p.Pro2204=)
c.6624T>A (p.Pro2208=)
c.6759T>A (p.Pro2253=)
c.68T>A
n.748T>A
17g.1651203G>ACA397563907PRPF8c.6578C>T (p.Pro2193Leu)
c.2506C>T
c.*6481C>T (n.*6481C>T)
n.3072C>T
c.6611C>T (p.Pro2204Leu)
c.6623C>T (p.Pro2208Leu)
c.6758C>T (p.Pro2253Leu)
c.67C>T
n.747C>T
17g.1651203G>CCA397563909PRPF8c.6578C>G (p.Pro2193Arg)
c.2506C>G
c.*6481C>G (n.*6481C>G)
n.3072C>G
c.6611C>G (p.Pro2204Arg)
c.6623C>G (p.Pro2208Arg)
c.6758C>G (p.Pro2253Arg)
c.67C>G
n.747C>G
17g.1651203G>TCA397563910PRPF8c.6578C>A (p.Pro2193His)
c.2506C>A
c.*6481C>A (n.*6481C>A)
n.3072C>A
c.6611C>A (p.Pro2204His)
c.6623C>A (p.Pro2208His)
c.6758C>A (p.Pro2253His)
c.67C>A
n.747C>A
17g.1651204G>ACA397563912PRPF8c.6577C>T (p.Pro2193Ser)
c.2505C>T
c.*6480C>T (n.*6480C>T)
n.3071C>T
c.6610C>T (p.Pro2204Ser)
c.6622C>T (p.Pro2208Ser)
c.6757C>T (p.Pro2253Ser)
c.66C>T
n.746C>T
17g.1651204G>CCA397563913PRPF8c.6577C>G (p.Pro2193Ala)
c.2505C>G
c.*6480C>G (n.*6480C>G)
n.3071C>G
c.6610C>G (p.Pro2204Ala)
c.6622C>G (p.Pro2208Ala)
c.6757C>G (p.Pro2253Ala)
c.66C>G
n.746C>G
17g.1651204G>TCA397563914PRPF8c.6577C>A (p.Pro2193Thr)
c.2505C>A
c.*6480C>A (n.*6480C>A)
n.3071C>A
c.6610C>A (p.Pro2204Thr)
c.6622C>A (p.Pro2208Thr)
c.6757C>A (p.Pro2253Thr)
c.66C>A
n.746C>A
17g.1651205C>ACA497388902PRPF8c.6576G>T (p.Leu2192=)
c.2504G>T
c.*6479G>T (n.*6479G>T)
n.3070G>T
c.6609G>T (p.Leu2203=)
c.6621G>T (p.Leu2207=)
c.6756G>T (p.Leu2252=)
c.65G>T
n.745G>T
17g.1651205C>GCA497388903PRPF8c.6576G>C (p.Leu2192=)
c.2504G>C
c.*6479G>C (n.*6479G>C)
n.3070G>C
c.6609G>C (p.Leu2203=)
c.6621G>C (p.Leu2207=)
c.6756G>C (p.Leu2252=)
c.65G>C
n.745G>C
17g.1651205C>TCA497388904PRPF8c.6576G>A (p.Leu2192=)
c.2504G>A
c.*6479G>A (n.*6479G>A)
n.3070G>A
c.6609G>A (p.Leu2203=)
c.6621G>A (p.Leu2207=)
c.6756G>A (p.Leu2252=)
c.65G>A
n.745G>A
17g.1651206A>CCA397563916PRPF8c.6575T>G (p.Leu2192Arg)
c.2503T>G
c.*6478T>G (n.*6478T>G)
n.3069T>G
c.6608T>G (p.Leu2203Arg)
c.6620T>G (p.Leu2207Arg)
c.6755T>G (p.Leu2252Arg)
c.64T>G
n.744T>G
17g.1651206A>GCA397563919PRPF8c.6575T>C (p.Leu2192Pro)
c.2503T>C
c.*6478T>C (n.*6478T>C)
n.3069T>C
c.6608T>C (p.Leu2203Pro)
c.6620T>C (p.Leu2207Pro)
c.6755T>C (p.Leu2252Pro)
c.64T>C
n.744T>C
17g.1651206A>TCA397563918PRPF8c.6575T>A (p.Leu2192Gln)
c.2503T>A
c.*6478T>A (n.*6478T>A)
n.3069T>A
c.6608T>A (p.Leu2203Gln)
c.6620T>A (p.Leu2207Gln)
c.6755T>A (p.Leu2252Gln)
c.64T>A
n.744T>A
17g.1651207G>ACA497388905PRPF8c.6574C>T (p.Leu2192=)
c.2502C>T
c.*6477C>T (n.*6477C>T)
n.3068C>T
c.6607C>T (p.Leu2203=)
c.6619C>T (p.Leu2207=)
c.6754C>T (p.Leu2252=)
c.63C>T
n.743C>T
17g.1651207G>CCA397563921PRPF8c.6574C>G (p.Leu2192Val)
c.2502C>G
c.*6477C>G (n.*6477C>G)
n.3068C>G
c.6607C>G (p.Leu2203Val)
c.6619C>G (p.Leu2207Val)
c.6754C>G (p.Leu2252Val)
c.63C>G
n.743C>G
17g.1651207G>TCA397563922PRPF8c.6574C>A (p.Leu2192Met)
c.2502C>A
c.*6477C>A (n.*6477C>A)
n.3068C>A
c.6607C>A (p.Leu2203Met)
c.6619C>A (p.Leu2207Met)
c.6754C>A (p.Leu2252Met)
c.63C>A
n.743C>A
17g.1651208G>ACA497388906PRPF8c.6573C>T (p.Tyr2191=)
c.2501C>T
c.*6476C>T (n.*6476C>T)
n.3067C>T
c.6606C>T (p.Tyr2202=)
c.6618C>T (p.Tyr2206=)
c.6753C>T (p.Tyr2251=)
c.62C>T
n.742C>T
 COSMIC
17g.1651208G>CCA397563923PRPF8c.6573C>G (p.Tyr2191Ter)
c.2501C>G
c.*6476C>G (n.*6476C>G)
n.3067C>G
c.6606C>G (p.Tyr2202Ter)
c.6618C>G (p.Tyr2206Ter)
c.6753C>G (p.Tyr2251Ter)
c.62C>G
n.742C>G
17g.1651208G>TCA397563924PRPF8c.6573C>A (p.Tyr2191Ter)
c.2501C>A
c.*6476C>A (n.*6476C>A)
n.3067C>A
c.6606C>A (p.Tyr2202Ter)
c.6618C>A (p.Tyr2206Ter)
c.6753C>A (p.Tyr2251Ter)
c.62C>A
n.742C>A
17g.1651209T>ACA397563926PRPF8c.6572A>T (p.Tyr2191Phe)
c.2500A>T
c.*6475A>T (n.*6475A>T)
n.3066A>T
c.6605A>T (p.Tyr2202Phe)
c.6617A>T (p.Tyr2206Phe)
c.6752A>T (p.Tyr2251Phe)
c.61A>T
n.741A>T
17g.1651209T>CCA397563929PRPF8c.6572A>G (p.Tyr2191Cys)
c.2500A>G
c.*6475A>G (n.*6475A>G)
n.3066A>G
c.6605A>G (p.Tyr2202Cys)
c.6617A>G (p.Tyr2206Cys)
c.6752A>G (p.Tyr2251Cys)
c.61A>G
n.741A>G
17g.1651209T>GCA397563928PRPF8c.6572A>C (p.Tyr2191Ser)
c.2500A>C
c.*6475A>C (n.*6475A>C)
n.3066A>C
c.6605A>C (p.Tyr2202Ser)
c.6617A>C (p.Tyr2206Ser)
c.6752A>C (p.Tyr2251Ser)
c.61A>C
n.741A>C
17g.1651210A>CCA397563931PRPF8c.6571T>G (p.Tyr2191Asp)
c.2499T>G
c.*6474T>G (n.*6474T>G)
n.3065T>G
c.6604T>G (p.Tyr2202Asp)
c.6616T>G (p.Tyr2206Asp)
c.6751T>G (p.Tyr2251Asp)
c.60T>G
n.740T>G
17g.1651210A>GCA397563932PRPF8c.6571T>C (p.Tyr2191His)
c.2499T>C
c.*6474T>C (n.*6474T>C)
n.3065T>C
c.6604T>C (p.Tyr2202His)
c.6616T>C (p.Tyr2206His)
c.6751T>C (p.Tyr2251His)
c.60T>C
n.740T>C
17g.1651210A>TCA397563934PRPF8c.6571T>A (p.Tyr2191Asn)
c.2499T>A
c.*6474T>A (n.*6474T>A)
n.3065T>A
c.6604T>A (p.Tyr2202Asn)
c.6616T>A (p.Tyr2206Asn)
c.6751T>A (p.Tyr2251Asn)
c.60T>A
n.740T>A
17g.1651211G>ACA8271103PRPF8c.6570C>T (p.Gly2190=)
c.2498C>T
c.*6473C>T (n.*6473C>T)
n.3064C>T
c.6603C>T (p.Gly2201=)
c.6615C>T (p.Gly2205=)
c.6750C>T (p.Gly2250=)
c.59C>T
n.739C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1651211G>CCA497388907PRPF8c.6570C>G (p.Gly2190=)
c.2498C>G
c.*6473C>G (n.*6473C>G)
n.3064C>G
c.6603C>G (p.Gly2201=)
c.6615C>G (p.Gly2205=)
c.6750C>G (p.Gly2250=)
c.59C>G
n.739C>G
 gnomAD v4
17g.1651211G=CA2242977770PRPF8c.6570C= (p.Gly2190=)
c.2498C=
c.*6473C= (n.*6473C=)
n.3064C=
c.6603C= (p.Gly2201=)
c.6615C= (p.Gly2205=)
c.6750C= (p.Gly2250=)
c.59C=
n.739C=
17g.1651211G>TCA8271102PRPF8c.6570C>A (p.Gly2190=)
c.2498C>A
c.*6473C>A (n.*6473C>A)
n.3064C>A
c.6603C>A (p.Gly2201=)
c.6615C>A (p.Gly2205=)
c.6750C>A (p.Gly2250=)
c.59C>A
n.739C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.1651212C>ACA397563937PRPF8c.6569G>T (p.Gly2190Val)
c.2497G>T
c.*6472G>T (n.*6472G>T)
n.3063G>T
c.6602G>T (p.Gly2201Val)
c.6614G>T (p.Gly2205Val)
c.6749G>T (p.Gly2250Val)
c.58G>T
n.738G>T
17g.1651212C>GCA397563938PRPF8c.6569G>C (p.Gly2190Ala)
c.2497G>C
c.*6472G>C (n.*6472G>C)
n.3063G>C
c.6602G>C (p.Gly2201Ala)
c.6614G>C (p.Gly2205Ala)
c.6749G>C (p.Gly2250Ala)
c.58G>C
n.738G>C
17g.1651212C>TCA397563940PRPF8c.6569G>A (p.Gly2190Asp)
c.2497G>A
c.*6472G>A (n.*6472G>A)
n.3063G>A
c.6602G>A (p.Gly2201Asp)
c.6614G>A (p.Gly2205Asp)
c.6749G>A (p.Gly2250Asp)
c.58G>A
n.738G>A
17g.1651213C>ACA397563941PRPF8c.6568G>T (p.Gly2190Cys)
c.2496G>T
c.*6471G>T (n.*6471G>T)
n.3062G>T
c.6601G>T (p.Gly2201Cys)
c.6613G>T (p.Gly2205Cys)
c.6748G>T (p.Gly2250Cys)
c.57G>T
n.737G>T
17g.1651213C>GCA397563943PRPF8c.6568G>C (p.Gly2190Arg)
c.2496G>C
c.*6471G>C (n.*6471G>C)
n.3062G>C
c.6601G>C (p.Gly2201Arg)
c.6613G>C (p.Gly2205Arg)
c.6748G>C (p.Gly2250Arg)
c.57G>C
n.737G>C
17g.1651213C>TCA397563944PRPF8c.6568G>A (p.Gly2190Ser)
c.2496G>A
c.*6471G>A (n.*6471G>A)
n.3062G>A
c.6601G>A (p.Gly2201Ser)
c.6613G>A (p.Gly2205Ser)
c.6748G>A (p.Gly2250Ser)
c.57G>A
n.737G>A
17g.1651214C>ACA397563945PRPF8c.6567G>T (p.Lys2189Asn)
c.2495G>T
c.*6470G>T (n.*6470G>T)
n.3061G>T
c.6600G>T (p.Lys2200Asn)
c.6612G>T (p.Lys2204Asn)
c.6747G>T (p.Lys2249Asn)
c.56G>T
n.736G>T
17g.1651214C>GCA397563947PRPF8c.6567G>C (p.Lys2189Asn)
c.2495G>C
c.*6470G>C (n.*6470G>C)
n.3061G>C
c.6600G>C (p.Lys2200Asn)
c.6612G>C (p.Lys2204Asn)
c.6747G>C (p.Lys2249Asn)
c.56G>C
n.736G>C
17g.1651214C>TCA497388908PRPF8c.6567G>A (p.Lys2189=)
c.2495G>A
c.*6470G>A (n.*6470G>A)
n.3061G>A
c.6600G>A (p.Lys2200=)
c.6612G>A (p.Lys2204=)
c.6747G>A (p.Lys2249=)
c.56G>A
n.736G>A
17g.1651215T>ACA397563948PRPF8c.6566A>T (p.Lys2189Met)
c.2494A>T
c.*6469A>T (n.*6469A>T)
n.3060A>T
c.6599A>T (p.Lys2200Met)
c.6611A>T (p.Lys2204Met)
c.6746A>T (p.Lys2249Met)
c.55A>T
n.735A>T
17g.1651215T>CCA397563952PRPF8c.6566A>G (p.Lys2189Arg)
c.2494A>G
c.*6469A>G (n.*6469A>G)
n.3060A>G
c.6599A>G (p.Lys2200Arg)
c.6611A>G (p.Lys2204Arg)
c.6746A>G (p.Lys2249Arg)
c.55A>G
n.735A>G
17g.1651215T>GCA397563950PRPF8c.6566A>C (p.Lys2189Thr)
c.2494A>C
c.*6469A>C (n.*6469A>C)
n.3060A>C
c.6599A>C (p.Lys2200Thr)
c.6611A>C (p.Lys2204Thr)
c.6746A>C (p.Lys2249Thr)
c.55A>C
n.735A>C
17g.1651216T>ACA397563953PRPF8c.6565A>T (p.Lys2189Ter)
c.2493A>T
c.*6468A>T (n.*6468A>T)
n.3059A>T
c.6598A>T (p.Lys2200Ter)
c.6610A>T (p.Lys2204Ter)
c.6745A>T (p.Lys2249Ter)
c.54A>T
n.734A>T
17g.1651216T>CCA397563956PRPF8c.6565A>G (p.Lys2189Glu)
c.2493A>G
c.*6468A>G (n.*6468A>G)
n.3059A>G
c.6598A>G (p.Lys2200Glu)
c.6610A>G (p.Lys2204Glu)
c.6745A>G (p.Lys2249Glu)
c.54A>G
n.734A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.1651216T>GCA397563954PRPF8c.6565A>C (p.Lys2189Gln)
c.2493A>C
c.*6468A>C (n.*6468A>C)
n.3059A>C
c.6598A>C (p.Lys2200Gln)
c.6610A>C (p.Lys2204Gln)
c.6745A>C (p.Lys2249Gln)
c.54A>C
n.734A>C
17g.1651216T=CA2242977776PRPF8c.6565A= (p.Lys2189=)
c.2493A=
c.*6468A= (n.*6468A=)
n.3059A=
c.6598A= (p.Lys2200=)
c.6610A= (p.Lys2204=)
c.6745A= (p.Lys2249=)
c.54A=
n.734A=
17g.1651217G>ACA497388909PRPF8c.6564C>T (p.Pro2188=)
c.2492C>T
c.*6467C>T (n.*6467C>T)
n.3058C>T
c.6597C>T (p.Pro2199=)
c.6609C>T (p.Pro2203=)
c.6744C>T (p.Pro2248=)
c.53C>T
n.733C>T
17g.1651217G>CCA497388910PRPF8c.6564C>G (p.Pro2188=)
c.2492C>G
c.*6467C>G (n.*6467C>G)
n.3058C>G
c.6597C>G (p.Pro2199=)
c.6609C>G (p.Pro2203=)
c.6744C>G (p.Pro2248=)
c.53C>G
n.733C>G
 gnomAD v4
17g.1651217G>TCA497388911PRPF8c.6564C>A (p.Pro2188=)
c.2492C>A
c.*6467C>A (n.*6467C>A)
n.3058C>A
c.6597C>A (p.Pro2199=)
c.6609C>A (p.Pro2203=)
c.6744C>A (p.Pro2248=)
c.53C>A
n.733C>A
17g.1651218G>ACA397563957PRPF8c.6563C>T (p.Pro2188Leu)
c.2491C>T
c.*6466C>T (n.*6466C>T)
n.3057C>T
c.6596C>T (p.Pro2199Leu)
c.6608C>T (p.Pro2203Leu)
c.6743C>T (p.Pro2248Leu)
c.52C>T
n.732C>T
17g.1651218G>CCA397563959PRPF8c.6563C>G (p.Pro2188Arg)
c.2491C>G
c.*6466C>G (n.*6466C>G)
n.3057C>G
c.6596C>G (p.Pro2199Arg)
c.6608C>G (p.Pro2203Arg)
c.6743C>G (p.Pro2248Arg)
c.52C>G
n.732C>G
17g.1651218G>TCA397563961PRPF8c.6563C>A (p.Pro2188His)
c.2491C>A
c.*6466C>A (n.*6466C>A)
n.3057C>A
c.6596C>A (p.Pro2199His)
c.6608C>A (p.Pro2203His)
c.6743C>A (p.Pro2248His)
c.52C>A
n.732C>A
17g.1651219G>ACA397563962PRPF8c.6562C>T (p.Pro2188Ser)
c.2490C>T
c.*6465C>T (n.*6465C>T)
n.3056C>T
c.6595C>T (p.Pro2199Ser)
c.6607C>T (p.Pro2203Ser)
c.6742C>T (p.Pro2248Ser)
c.51C>T
n.731C>T
17g.1651219G>CCA397563964PRPF8c.6562C>G (p.Pro2188Ala)
c.2490C>G
c.*6465C>G (n.*6465C>G)
n.3056C>G
c.6595C>G (p.Pro2199Ala)
c.6607C>G (p.Pro2203Ala)
c.6742C>G (p.Pro2248Ala)
c.51C>G
n.731C>G
17g.1651219G>TCA397563965PRPF8c.6562C>A (p.Pro2188Thr)
c.2490C>A
c.*6465C>A (n.*6465C>A)
n.3056C>A
c.6595C>A (p.Pro2199Thr)
c.6607C>A (p.Pro2203Thr)
c.6742C>A (p.Pro2248Thr)
c.51C>A
n.731C>A
17g.1651220G>ACA8271104PRPF8c.6561C>T (p.Asn2187=)
c.2489C>T
c.*6464C>T (n.*6464C>T)
n.3055C>T
c.6594C>T (p.Asn2198=)
c.6606C>T (p.Asn2202=)
c.6741C>T (p.Asn2247=)
c.50C>T
n.730C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1651220G>CCA397563966PRPF8c.6561C>G (p.Asn2187Lys)
c.2489C>G
c.*6464C>G (n.*6464C>G)
n.3055C>G
c.6594C>G (p.Asn2198Lys)
c.6606C>G (p.Asn2202Lys)
c.6741C>G (p.Asn2247Lys)
c.50C>G
n.730C>G
17g.1651220G=CA2242977781PRPF8c.6561C= (p.Asn2187=)
c.2489C=
c.*6464C= (n.*6464C=)
n.3055C=
c.6594C= (p.Asn2198=)
c.6606C= (p.Asn2202=)
c.6741C= (p.Asn2247=)
c.50C=
n.730C=
17g.1651220G>TCA397563967PRPF8c.6561C>A (p.Asn2187Lys)
c.2489C>A
c.*6464C>A (n.*6464C>A)
n.3055C>A
c.6594C>A (p.Asn2198Lys)
c.6606C>A (p.Asn2202Lys)
c.6741C>A (p.Asn2247Lys)
c.50C>A
n.730C>A
17g.1651221T>ACA397563968PRPF8c.6560A>T (p.Asn2187Ile)
c.2488A>T
c.*6463A>T (n.*6463A>T)
n.3054A>T
c.6593A>T (p.Asn2198Ile)
c.6605A>T (p.Asn2202Ile)
c.6740A>T (p.Asn2247Ile)
c.49A>T
n.729A>T
17g.1651221T>CCA8271105PRPF8c.6560A>G (p.Asn2187Ser)
c.2488A>G
c.*6463A>G (n.*6463A>G)
n.3054A>G
c.6593A>G (p.Asn2198Ser)
c.6605A>G (p.Asn2202Ser)
c.6740A>G (p.Asn2247Ser)
c.49A>G
n.729A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1651221T>GCA397563969PRPF8c.6560A>C (p.Asn2187Thr)
c.2488A>C
c.*6463A>C (n.*6463A>C)
n.3054A>C
c.6593A>C (p.Asn2198Thr)
c.6605A>C (p.Asn2202Thr)
c.6740A>C (p.Asn2247Thr)
c.49A>C
n.729A>C
17g.1651221T=CA2242977784PRPF8c.6560A= (p.Asn2187=)
c.2488A=
c.*6463A= (n.*6463A=)
n.3054A=
c.6593A= (p.Asn2198=)
c.6605A= (p.Asn2202=)
c.6740A= (p.Asn2247=)
c.49A=
n.729A=
17g.1651222T>ACA397563973PRPF8c.6559A>T (p.Asn2187Tyr)
c.2487A>T
c.*6462A>T (n.*6462A>T)
n.3053A>T
c.6592A>T (p.Asn2198Tyr)
c.6604A>T (p.Asn2202Tyr)
c.6739A>T (p.Asn2247Tyr)
c.48A>T
n.728A>T
17g.1651222T>CCA397563971PRPF8c.6559A>G (p.Asn2187Asp)
c.2487A>G
c.*6462A>G (n.*6462A>G)
n.3053A>G
c.6592A>G (p.Asn2198Asp)
c.6604A>G (p.Asn2202Asp)
c.6739A>G (p.Asn2247Asp)
c.48A>G
n.728A>G
17g.1651222T>GCA397563970PRPF8c.6559A>C (p.Asn2187His)
c.2487A>C
c.*6462A>C (n.*6462A>C)
n.3053A>C
c.6592A>C (p.Asn2198His)
c.6604A>C (p.Asn2202His)
c.6739A>C (p.Asn2247His)
c.48A>C
n.728A>C
17g.1651223G>ACA286850015PRPF8c.6558C>T (p.Asn2186=)
c.2486C>T
c.*6461C>T (n.*6461C>T)
n.3052C>T
c.6591C>T (p.Asn2197=)
c.6603C>T (p.Asn2201=)
c.6738C>T (p.Asn2246=)
c.47C>T
n.727C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.1651223G>CCA397563975PRPF8c.6558C>G (p.Asn2186Lys)
c.2486C>G
c.*6461C>G (n.*6461C>G)
n.3052C>G
c.6591C>G (p.Asn2197Lys)
c.6603C>G (p.Asn2201Lys)
c.6738C>G (p.Asn2246Lys)
c.47C>G
n.727C>G
17g.1651223G=CA2242977788PRPF8c.6558C= (p.Asn2186=)
c.2486C=
c.*6461C= (n.*6461C=)
n.3052C=
c.6591C= (p.Asn2197=)
c.6603C= (p.Asn2201=)
c.6738C= (p.Asn2246=)
c.47C=
n.727C=
17g.1651223G>TCA397563977PRPF8c.6558C>A (p.Asn2186Lys)
c.2486C>A
c.*6461C>A (n.*6461C>A)
n.3052C>A
c.6591C>A (p.Asn2197Lys)
c.6603C>A (p.Asn2201Lys)
c.6738C>A (p.Asn2246Lys)
c.47C>A
n.727C>A
17g.1651224T>ACA397563978PRPF8c.6557A>T (p.Asn2186Ile)
c.2485A>T
c.*6460A>T (n.*6460A>T)
n.3051A>T
c.6590A>T (p.Asn2197Ile)
c.6602A>T (p.Asn2201Ile)
c.6737A>T (p.Asn2246Ile)
c.46A>T
n.726A>T
17g.1651224T>CCA397563980PRPF8c.6557A>G (p.Asn2186Ser)
c.2485A>G
c.*6460A>G (n.*6460A>G)
n.3051A>G
c.6590A>G (p.Asn2197Ser)
c.6602A>G (p.Asn2201Ser)
c.6737A>G (p.Asn2246Ser)
c.46A>G
n.726A>G
17g.1651224T>GCA397563981PRPF8c.6557A>C (p.Asn2186Thr)
c.2485A>C
c.*6460A>C (n.*6460A>C)
n.3051A>C
c.6590A>C (p.Asn2197Thr)
c.6602A>C (p.Asn2201Thr)
c.6737A>C (p.Asn2246Thr)
c.46A>C
n.726A>C
17g.1651225T>ACA397563982PRPF8c.6556A>T (p.Asn2186Tyr)
c.2484A>T
c.*6459A>T (n.*6459A>T)
n.3050A>T
c.6589A>T (p.Asn2197Tyr)
c.6601A>T (p.Asn2201Tyr)
c.6736A>T (p.Asn2246Tyr)
c.45A>T
n.725A>T
17g.1651225T>CCA397563983PRPF8c.6556A>G (p.Asn2186Asp)
c.2484A>G
c.*6459A>G (n.*6459A>G)
n.3050A>G
c.6589A>G (p.Asn2197Asp)
c.6601A>G (p.Asn2201Asp)
c.6736A>G (p.Asn2246Asp)
c.45A>G
n.725A>G
17g.1651225T>GCA397563984PRPF8c.6556A>C (p.Asn2186His)
c.2484A>C
c.*6459A>C (n.*6459A>C)
n.3050A>C
c.6589A>C (p.Asn2197His)
c.6601A>C (p.Asn2201His)
c.6736A>C (p.Asn2246His)
c.45A>C
n.725A>C
17g.1651226G>ACA8271106PRPF8c.6555C>T (p.Gly2185=)
c.2483C>T
c.*6458C>T (n.*6458C>T)
n.3049C>T
c.6588C>T (p.Gly2196=)
c.6600C>T (p.Gly2200=)
c.6735C>T (p.Gly2245=)
c.44C>T
n.724C>T
 ClinVar dbSNP ExAC gnomAD v4
17g.1651226G>CCA497388913PRPF8c.6555C>G (p.Gly2185=)
c.2483C>G
c.*6458C>G (n.*6458C>G)
n.3049C>G
c.6588C>G (p.Gly2196=)
c.6600C>G (p.Gly2200=)
c.6735C>G (p.Gly2245=)
c.44C>G
n.724C>G
17g.1651226G=CA2242977791PRPF8c.6555C= (p.Gly2185=)
c.2483C=
c.*6458C= (n.*6458C=)
n.3049C=
c.6588C= (p.Gly2196=)
c.6600C= (p.Gly2200=)
c.6735C= (p.Gly2245=)
c.44C=
n.724C=
17g.1651226G>TCA497388912PRPF8c.6555C>A (p.Gly2185=)
c.2483C>A
c.*6458C>A (n.*6458C>A)
n.3049C>A
c.6588C>A (p.Gly2196=)
c.6600C>A (p.Gly2200=)
c.6735C>A (p.Gly2245=)
c.44C>A
n.724C>A
17g.1651227C>ACA397563986PRPF8c.6554G>T (p.Gly2185Val)
c.2482G>T
c.*6457G>T (n.*6457G>T)
n.3048G>T
c.6587G>T (p.Gly2196Val)
c.6599G>T (p.Gly2200Val)
c.6734G>T (p.Gly2245Val)
c.43G>T
n.723G>T
17g.1651227C>GCA397563987PRPF8c.6554G>C (p.Gly2185Ala)
c.2482G>C
c.*6457G>C (n.*6457G>C)
n.3048G>C
c.6587G>C (p.Gly2196Ala)
c.6599G>C (p.Gly2200Ala)
c.6734G>C (p.Gly2245Ala)
c.43G>C
n.723G>C
17g.1651227C>TCA397563989PRPF8c.6554G>A (p.Gly2185Asp)
c.2482G>A
c.*6457G>A (n.*6457G>A)
n.3048G>A
c.6587G>A (p.Gly2196Asp)
c.6599G>A (p.Gly2200Asp)
c.6734G>A (p.Gly2245Asp)
c.43G>A
n.723G>A
17g.1651228C>ACA397563992PRPF8c.6553G>T (p.Gly2185Cys)
c.2481G>T
c.*6456G>T (n.*6456G>T)
n.3047G>T
c.6586G>T (p.Gly2196Cys)
c.6598G>T (p.Gly2200Cys)
c.6733G>T (p.Gly2245Cys)
c.42G>T
n.722G>T
17g.1651228C>GCA397563993PRPF8c.6553G>C (p.Gly2185Arg)
c.2481G>C
c.*6456G>C (n.*6456G>C)
n.3047G>C
c.6586G>C (p.Gly2196Arg)
c.6598G>C (p.Gly2200Arg)
c.6733G>C (p.Gly2245Arg)
c.42G>C
n.722G>C
17g.1651228C>TCA397563990PRPF8c.6553G>A (p.Gly2185Ser)
c.2481G>A
c.*6456G>A (n.*6456G>A)
n.3047G>A
c.6586G>A (p.Gly2196Ser)
c.6598G>A (p.Gly2200Ser)
c.6733G>A (p.Gly2245Ser)
c.42G>A
n.722G>A
17g.1651229C>ACA397563995PRPF8c.6552G>T (p.Lys2184Asn)
c.2480G>T
c.*6455G>T (n.*6455G>T)
n.3046G>T
c.6585G>T (p.Lys2195Asn)
c.6597G>T (p.Lys2199Asn)
c.6732G>T (p.Lys2244Asn)
c.41G>T
n.721G>T
17g.1651229C=CA2242977795PRPF8c.6552G= (p.Lys2184=)
c.2480G=
c.*6455G= (n.*6455G=)
n.3046G=
c.6585G= (p.Lys2195=)
c.6597G= (p.Lys2199=)
c.6732G= (p.Lys2244=)
c.41G=
n.721G=
17g.1651229C>GCA397563996PRPF8c.6552G>C (p.Lys2184Asn)
c.2480G>C
c.*6455G>C (n.*6455G>C)
n.3046G>C
c.6585G>C (p.Lys2195Asn)
c.6597G>C (p.Lys2199Asn)
c.6732G>C (p.Lys2244Asn)
c.41G>C
n.721G>C
17g.1651229C>TCA8271107PRPF8c.6552G>A (p.Lys2184=)
c.2480G>A
c.*6455G>A (n.*6455G>A)
n.3046G>A
c.6585G>A (p.Lys2195=)
c.6597G>A (p.Lys2199=)
c.6732G>A (p.Lys2244=)
c.41G>A
n.721G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1651230T>ACA397563999PRPF8c.6551A>T (p.Lys2184Met)
c.2479A>T
c.*6454A>T (n.*6454A>T)
n.3045A>T
c.6584A>T (p.Lys2195Met)
c.6596A>T (p.Lys2199Met)
c.6731A>T (p.Lys2244Met)
c.40A>T
n.720A>T
17g.1651230T>CCA397564000PRPF8c.6551A>G (p.Lys2184Arg)
c.2479A>G
c.*6454A>G (n.*6454A>G)
n.3045A>G
c.6584A>G (p.Lys2195Arg)
c.6596A>G (p.Lys2199Arg)
c.6731A>G (p.Lys2244Arg)
c.40A>G
n.720A>G
17g.1651230T>GCA397564002PRPF8c.6551A>C (p.Lys2184Thr)
c.2479A>C
c.*6454A>C (n.*6454A>C)
n.3045A>C
c.6584A>C (p.Lys2195Thr)
c.6596A>C (p.Lys2199Thr)
c.6731A>C (p.Lys2244Thr)
c.40A>C
n.720A>C
17g.1651231T>ACA397564003PRPF8c.6550A>T (p.Lys2184Ter)
c.2478A>T
c.*6453A>T (n.*6453A>T)
n.3044A>T
c.6583A>T (p.Lys2195Ter)
c.6595A>T (p.Lys2199Ter)
c.6730A>T (p.Lys2244Ter)
c.39A>T
n.719A>T
17g.1651231T>CCA397564004PRPF8c.6550A>G (p.Lys2184Glu)
c.2478A>G
c.*6453A>G (n.*6453A>G)
n.3044A>G
c.6583A>G (p.Lys2195Glu)
c.6595A>G (p.Lys2199Glu)
c.6730A>G (p.Lys2244Glu)
c.39A>G
n.719A>G
17g.1651231T>GCA397564006PRPF8c.6550A>C (p.Lys2184Gln)
c.2478A>C
c.*6453A>C (n.*6453A>C)
n.3044A>C
c.6583A>C (p.Lys2195Gln)
c.6595A>C (p.Lys2199Gln)
c.6730A>C (p.Lys2244Gln)
c.39A>C
n.719A>C
17g.1651232G>ACA497388914PRPF8c.6549C>T (p.Asp2183=)
c.2477C>T
c.*6452C>T (n.*6452C>T)
n.3043C>T
c.6582C>T (p.Asp2194=)
c.6594C>T (p.Asp2198=)
c.6729C>T (p.Asp2243=)
c.38C>T
n.718C>T
17g.1651232G>CCA397564007PRPF8c.6549C>G (p.Asp2183Glu)
c.2477C>G
c.*6452C>G (n.*6452C>G)
n.3043C>G
c.6582C>G (p.Asp2194Glu)
c.6594C>G (p.Asp2198Glu)
c.6729C>G (p.Asp2243Glu)
c.38C>G
n.718C>G
17g.1651232G>TCA397564009PRPF8c.6549C>A (p.Asp2183Glu)
c.2477C>A
c.*6452C>A (n.*6452C>A)
n.3043C>A
c.6582C>A (p.Asp2194Glu)
c.6594C>A (p.Asp2198Glu)
c.6729C>A (p.Asp2243Glu)
c.38C>A
n.718C>A
 gnomAD v4
17g.1651233T>ACA397564013PRPF8c.6548A>T (p.Asp2183Val)
c.2476A>T
c.*6451A>T (n.*6451A>T)
n.3042A>T
c.6581A>T (p.Asp2194Val)
c.6593A>T (p.Asp2198Val)
c.6728A>T (p.Asp2243Val)
c.37A>T
n.717A>T
17g.1651233T>CCA397564012PRPF8c.6548A>G (p.Asp2183Gly)
c.2476A>G
c.*6451A>G (n.*6451A>G)
n.3042A>G
c.6581A>G (p.Asp2194Gly)
c.6593A>G (p.Asp2198Gly)
c.6728A>G (p.Asp2243Gly)
c.37A>G
n.717A>G
17g.1651233T>GCA397564010PRPF8c.6548A>C (p.Asp2183Ala)
c.2476A>C
c.*6451A>C (n.*6451A>C)
n.3042A>C
c.6581A>C (p.Asp2194Ala)
c.6593A>C (p.Asp2198Ala)
c.6728A>C (p.Asp2243Ala)
c.37A>C
n.717A>C
17g.1651234C>ACA397564015PRPF8c.6547G>T (p.Asp2183Tyr)
c.2475G>T
c.*6450G>T (n.*6450G>T)
n.3041G>T
c.6580G>T (p.Asp2194Tyr)
c.6592G>T (p.Asp2198Tyr)
c.6727G>T (p.Asp2243Tyr)
c.36G>T
n.716G>T
17g.1651234C>GCA397564016PRPF8c.6547G>C (p.Asp2183His)
c.2475G>C
c.*6450G>C (n.*6450G>C)
n.3041G>C
c.6580G>C (p.Asp2194His)
c.6592G>C (p.Asp2198His)
c.6727G>C (p.Asp2243His)
c.36G>C
n.716G>C
17g.1651234C>TCA397564018PRPF8c.6547G>A (p.Asp2183Asn)
c.2475G>A
c.*6450G>A (n.*6450G>A)
n.3041G>A
c.6580G>A (p.Asp2194Asn)
c.6592G>A (p.Asp2198Asn)
c.6727G>A (p.Asp2243Asn)
c.36G>A
n.716G>A
17g.1651235T>ACA497388915PRPF8c.6546A>T (p.Thr2182=)
c.2474A>T
c.*6449A>T (n.*6449A>T)
n.3040A>T
c.6579A>T (p.Thr2193=)
c.6591A>T (p.Thr2197=)
c.6726A>T (p.Thr2242=)
c.35A>T
n.715A>T
17g.1651235T>CCA497388916PRPF8c.6546A>G (p.Thr2182=)
c.2474A>G
c.*6449A>G (n.*6449A>G)
n.3040A>G
c.6579A>G (p.Thr2193=)
c.6591A>G (p.Thr2197=)
c.6726A>G (p.Thr2242=)
c.35A>G
n.715A>G
17g.1651235T>GCA497388917PRPF8c.6546A>C (p.Thr2182=)
c.2474A>C
c.*6449A>C (n.*6449A>C)
n.3040A>C
c.6579A>C (p.Thr2193=)
c.6591A>C (p.Thr2197=)
c.6726A>C (p.Thr2242=)
c.35A>C
n.715A>C
17g.1651236G>ACA397564020PRPF8c.6545C>T (p.Thr2182Ile)
c.2473C>T
c.*6448C>T (n.*6448C>T)
n.3039C>T
c.6578C>T (p.Thr2193Ile)
c.6590C>T (p.Thr2197Ile)
c.6725C>T (p.Thr2242Ile)
c.34C>T
n.714C>T
17g.1651236G>CCA397564021PRPF8c.6545C>G (p.Thr2182Arg)
c.2473C>G
c.*6448C>G (n.*6448C>G)
n.3039C>G
c.6578C>G (p.Thr2193Arg)
c.6590C>G (p.Thr2197Arg)
c.6725C>G (p.Thr2242Arg)
c.34C>G
n.714C>G
17g.1651236G>TCA397564022PRPF8c.6545C>A (p.Thr2182Lys)
c.2473C>A
c.*6448C>A (n.*6448C>A)
n.3039C>A
c.6578C>A (p.Thr2193Lys)
c.6590C>A (p.Thr2197Lys)
c.6725C>A (p.Thr2242Lys)
c.34C>A
n.714C>A
17g.1651237T>ACA397564023PRPF8c.6544A>T (p.Thr2182Ser)
c.2472A>T
c.*6447A>T (n.*6447A>T)
n.3038A>T
c.6577A>T (p.Thr2193Ser)
c.6589A>T (p.Thr2197Ser)
c.6724A>T (p.Thr2242Ser)
c.33A>T
n.713A>T
17g.1651237T>CCA397564025PRPF8c.6544A>G (p.Thr2182Ala)
c.2472A>G
c.*6447A>G (n.*6447A>G)
n.3038A>G
c.6577A>G (p.Thr2193Ala)
c.6589A>G (p.Thr2197Ala)
c.6724A>G (p.Thr2242Ala)
c.33A>G
n.713A>G
17g.1651237T>GCA397564026PRPF8c.6544A>C (p.Thr2182Pro)
c.2472A>C
c.*6447A>C (n.*6447A>C)
n.3038A>C
c.6577A>C (p.Thr2193Pro)
c.6589A>C (p.Thr2197Pro)
c.6724A>C (p.Thr2242Pro)
c.33A>C
n.713A>C
 gnomAD v4
17g.1651238G>ACA497388918PRPF8c.6543C>T (p.Asn2181=)
c.2471C>T
c.*6446C>T (n.*6446C>T)
n.3037C>T
c.6576C>T (p.Asn2192=)
c.6588C>T (p.Asn2196=)
c.6723C>T (p.Asn2241=)
c.32C>T
n.712C>T
17g.1651238G>CCA397564028PRPF8c.6543C>G (p.Asn2181Lys)
c.2471C>G
c.*6446C>G (n.*6446C>G)
n.3037C>G
c.6576C>G (p.Asn2192Lys)
c.6588C>G (p.Asn2196Lys)
c.6723C>G (p.Asn2241Lys)
c.32C>G
n.712C>G
17g.1651238G>TCA397564029PRPF8c.6543C>A (p.Asn2181Lys)
c.2471C>A
c.*6446C>A (n.*6446C>A)
n.3037C>A
c.6576C>A (p.Asn2192Lys)
c.6588C>A (p.Asn2196Lys)
c.6723C>A (p.Asn2241Lys)
c.32C>A
n.712C>A
17g.1651239T>ACA397564033PRPF8c.6542A>T (p.Asn2181Ile)
c.2470A>T
c.*6445A>T (n.*6445A>T)
n.3036A>T
c.6575A>T (p.Asn2192Ile)
c.6587A>T (p.Asn2196Ile)
c.6722A>T (p.Asn2241Ile)
c.31A>T
n.711A>T
17g.1651239T>CCA397564031PRPF8c.6542A>G (p.Asn2181Ser)
c.2470A>G
c.*6445A>G (n.*6445A>G)
n.3036A>G
c.6575A>G (p.Asn2192Ser)
c.6587A>G (p.Asn2196Ser)
c.6722A>G (p.Asn2241Ser)
c.31A>G
n.711A>G
17g.1651239T>GCA397564030PRPF8c.6542A>C (p.Asn2181Thr)
c.2470A>C
c.*6445A>C (n.*6445A>C)
n.3036A>C
c.6575A>C (p.Asn2192Thr)
c.6587A>C (p.Asn2196Thr)
c.6722A>C (p.Asn2241Thr)
c.31A>C
n.711A>C
17g.1651240T>ACA397564034PRPF8c.6541A>T (p.Asn2181Tyr)
c.2469A>T
c.*6444A>T (n.*6444A>T)
n.3035A>T
c.6574A>T (p.Asn2192Tyr)
c.6586A>T (p.Asn2196Tyr)
c.6721A>T (p.Asn2241Tyr)
c.30A>T
n.710A>T
17g.1651240T>CCA397564037PRPF8c.6541A>G (p.Asn2181Asp)
c.2469A>G
c.*6444A>G (n.*6444A>G)
n.3035A>G
c.6574A>G (p.Asn2192Asp)
c.6586A>G (p.Asn2196Asp)
c.6721A>G (p.Asn2241Asp)
c.30A>G
n.710A>G
17g.1651240T>GCA397564036PRPF8c.6541A>C (p.Asn2181His)
c.2469A>C
c.*6444A>C (n.*6444A>C)
n.3035A>C
c.6574A>C (p.Asn2192His)
c.6586A>C (p.Asn2196His)
c.6721A>C (p.Asn2241His)
c.30A>C
n.710A>C
17g.1651241C>ACA397564038PRPF8c.6540G>T (p.Gln2180His)
c.2468G>T
c.*6443G>T (n.*6443G>T)
n.3034G>T
c.6573G>T (p.Gln2191His)
c.6585G>T (p.Gln2195His)
c.6720G>T (p.Gln2240His)
c.29G>T
n.709G>T
17g.1651241C>GCA397564039PRPF8c.6540G>C (p.Gln2180His)
c.2468G>C
c.*6443G>C (n.*6443G>C)
n.3034G>C
c.6573G>C (p.Gln2191His)
c.6585G>C (p.Gln2195His)
c.6720G>C (p.Gln2240His)
c.29G>C
n.709G>C
17g.1651241C>TCA497388919PRPF8c.6540G>A (p.Gln2180=)
c.2468G>A
c.*6443G>A (n.*6443G>A)
n.3034G>A
c.6573G>A (p.Gln2191=)
c.6585G>A (p.Gln2195=)
c.6720G>A (p.Gln2240=)
c.29G>A
n.709G>A
 gnomAD v4
17g.1651242T>ACA397564040PRPF8c.6539A>T (p.Gln2180Leu)
c.2467A>T
c.*6442A>T (n.*6442A>T)
n.3033A>T
c.6572A>T (p.Gln2191Leu)
c.6584A>T (p.Gln2195Leu)
c.6719A>T (p.Gln2240Leu)
c.28A>T
n.708A>T
17g.1651242T>CCA397564042PRPF8c.6539A>G (p.Gln2180Arg)
c.2467A>G
c.*6442A>G (n.*6442A>G)
n.3033A>G
c.6572A>G (p.Gln2191Arg)
c.6584A>G (p.Gln2195Arg)
c.6719A>G (p.Gln2240Arg)
c.28A>G
n.708A>G
17g.1651242T>GCA397564043PRPF8c.6539A>C (p.Gln2180Pro)
c.2467A>C
c.*6442A>C (n.*6442A>C)
n.3033A>C
c.6572A>C (p.Gln2191Pro)
c.6584A>C (p.Gln2195Pro)
c.6719A>C (p.Gln2240Pro)
c.28A>C
n.708A>C
17g.1651243G>ACA397564045PRPF8c.6538C>T (p.Gln2180Ter)
c.2466C>T
c.*6441C>T (n.*6441C>T)
n.3032C>T
c.6571C>T (p.Gln2191Ter)
c.6583C>T (p.Gln2195Ter)
c.6718C>T (p.Gln2240Ter)
c.27C>T
n.707C>T
17g.1651243G>CCA397564046PRPF8c.6538C>G (p.Gln2180Glu)
c.2466C>G
c.*6441C>G (n.*6441C>G)
n.3032C>G
c.6571C>G (p.Gln2191Glu)
c.6583C>G (p.Gln2195Glu)
c.6718C>G (p.Gln2240Glu)
c.27C>G
n.707C>G
17g.1651243G>TCA397564047PRPF8c.6538C>A (p.Gln2180Lys)
c.2466C>A
c.*6441C>A (n.*6441C>A)
n.3032C>A
c.6571C>A (p.Gln2191Lys)
c.6583C>A (p.Gln2195Lys)
c.6718C>A (p.Gln2240Lys)
c.27C>A
n.707C>A
17g.1651244G>ACA8271108PRPF8c.6537C>T (p.Arg2179=)
c.2465C>T
c.*6440C>T (n.*6440C>T)
n.3031C>T
c.6570C>T (p.Arg2190=)
c.6582C>T (p.Arg2194=)
c.6717C>T (p.Arg2239=)
c.26C>T
n.706C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1651244G>CCA497388921PRPF8c.6537C>G (p.Arg2179=)
c.2465C>G
c.*6440C>G (n.*6440C>G)
n.3031C>G
c.6570C>G (p.Arg2190=)
c.6582C>G (p.Arg2194=)
c.6717C>G (p.Arg2239=)
c.26C>G
n.706C>G
17g.1651244G=CA2242977800PRPF8c.6537C= (p.Arg2179=)
c.2465C=
c.*6440C= (n.*6440C=)
n.3031C=
c.6570C= (p.Arg2190=)
c.6582C= (p.Arg2194=)
c.6717C= (p.Arg2239=)
c.26C=
n.706C=
17g.1651244G>TCA497388920PRPF8c.6537C>A (p.Arg2179=)
c.2465C>A
c.*6440C>A (n.*6440C>A)
n.3031C>A
c.6570C>A (p.Arg2190=)
c.6582C>A (p.Arg2194=)
c.6717C>A (p.Arg2239=)
c.26C>A
n.706C>A
17g.1651245C>ACA397564049PRPF8c.6536G>T (p.Arg2179Leu)
c.2464G>T
c.*6439G>T (n.*6439G>T)
n.3030G>T
c.6569G>T (p.Arg2190Leu)
c.6581G>T (p.Arg2194Leu)
c.6716G>T (p.Arg2239Leu)
c.25G>T
n.705G>T
17g.1651245C>GCA397564051PRPF8c.6536G>C (p.Arg2179Pro)
c.2464G>C
c.*6439G>C (n.*6439G>C)
n.3030G>C
c.6569G>C (p.Arg2190Pro)
c.6581G>C (p.Arg2194Pro)
c.6716G>C (p.Arg2239Pro)
c.25G>C
n.705G>C
17g.1651245C>TCA397564052PRPF8c.6536G>A (p.Arg2179His)
c.2464G>A
c.*6439G>A (n.*6439G>A)
n.3030G>A
c.6569G>A (p.Arg2190His)
c.6581G>A (p.Arg2194His)
c.6716G>A (p.Arg2239His)
c.25G>A
n.705G>A
 gnomAD v4
17g.1651246G>ACA397564053PRPF8c.6535C>T (p.Arg2179Cys)
c.2463C>T
c.*6438C>T (n.*6438C>T)
n.3029C>T
c.6568C>T (p.Arg2190Cys)
c.6580C>T (p.Arg2194Cys)
c.6715C>T (p.Arg2239Cys)
c.24C>T
n.704C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.1651246G>CCA397564056PRPF8c.6535C>G (p.Arg2179Gly)
c.2463C>G
c.*6438C>G (n.*6438C>G)
n.3029C>G
c.6568C>G (p.Arg2190Gly)
c.6580C>G (p.Arg2194Gly)
c.6715C>G (p.Arg2239Gly)
c.24C>G
n.704C>G
17g.1651246G=CA2242977802PRPF8c.6535C= (p.Arg2179=)
c.2463C=
c.*6438C= (n.*6438C=)
n.3029C=
c.6568C= (p.Arg2190=)
c.6580C= (p.Arg2194=)
c.6715C= (p.Arg2239=)
c.24C=
n.704C=
17g.1651246G>TCA397564054PRPF8c.6535C>A (p.Arg2179Ser)
c.2463C>A
c.*6438C>A (n.*6438C>A)
n.3029C>A
c.6568C>A (p.Arg2190Ser)
c.6580C>A (p.Arg2194Ser)
c.6715C>A (p.Arg2239Ser)
c.24C>A
n.704C>A
17g.1651247G>ACA497388922PRPF8c.6534C>T (p.Gly2178=)
c.2462C>T
c.*6437C>T (n.*6437C>T)
n.3028C>T
c.6567C>T (p.Gly2189=)
c.6579C>T (p.Gly2193=)
c.6714C>T (p.Gly2238=)
c.23C>T
n.703C>T
 dbSNP
17g.1651247G>CCA497388923PRPF8c.6534C>G (p.Gly2178=)
c.2462C>G
c.*6437C>G (n.*6437C>G)
n.3028C>G
c.6567C>G (p.Gly2189=)
c.6579C>G (p.Gly2193=)
c.6714C>G (p.Gly2238=)
c.23C>G
n.703C>G
17g.1651247G=CA2242977804PRPF8c.6534C= (p.Gly2178=)
c.2462C=
c.*6437C= (n.*6437C=)
n.3028C=
c.6567C= (p.Gly2189=)
c.6579C= (p.Gly2193=)
c.6714C= (p.Gly2238=)
c.23C=
n.703C=
17g.1651247G>TCA497388924PRPF8c.6534C>A (p.Gly2178=)
c.2462C>A
c.*6437C>A (n.*6437C>A)
n.3028C>A
c.6567C>A (p.Gly2189=)
c.6579C>A (p.Gly2193=)
c.6714C>A (p.Gly2238=)
c.23C>A
n.703C>A
17g.1651248C>ACA397564057PRPF8c.6533G>T (p.Gly2178Val)
c.2461G>T
c.*6436G>T (n.*6436G>T)
n.3027G>T
c.6566G>T (p.Gly2189Val)
c.6578G>T (p.Gly2193Val)
c.6713G>T (p.Gly2238Val)
c.22G>T
n.702G>T
17g.1651248C>GCA397564058PRPF8c.6533G>C (p.Gly2178Ala)
c.2461G>C
c.*6436G>C (n.*6436G>C)
n.3027G>C
c.6566G>C (p.Gly2189Ala)
c.6578G>C (p.Gly2193Ala)
c.6713G>C (p.Gly2238Ala)
c.22G>C
n.702G>C
17g.1651248C>TCA397564060PRPF8c.6533G>A (p.Gly2178Asp)
c.2461G>A
c.*6436G>A (n.*6436G>A)
n.3027G>A
c.6566G>A (p.Gly2189Asp)
c.6578G>A (p.Gly2193Asp)
c.6713G>A (p.Gly2238Asp)
c.22G>A
n.702G>A
17g.1651249C>ACA397564062PRPF8c.6532G>T (p.Gly2178Cys)
c.2460G>T
c.*6435G>T (n.*6435G>T)
n.3026G>T
c.6565G>T (p.Gly2189Cys)
c.6577G>T (p.Gly2193Cys)
c.6712G>T (p.Gly2238Cys)
c.21G>T
n.701G>T
17g.1651249C>GCA397564063PRPF8c.6532G>C (p.Gly2178Arg)
c.2460G>C
c.*6435G>C (n.*6435G>C)
n.3026G>C
c.6565G>C (p.Gly2189Arg)
c.6577G>C (p.Gly2193Arg)
c.6712G>C (p.Gly2238Arg)
c.21G>C
n.701G>C
17g.1651249C>TCA397564064PRPF8c.6532G>A (p.Gly2178Ser)
c.2460G>A
c.*6435G>A (n.*6435G>A)
n.3026G>A
c.6565G>A (p.Gly2189Ser)
c.6577G>A (p.Gly2193Ser)
c.6712G>A (p.Gly2238Ser)
c.21G>A
n.701G>A
17g.1651250C>ACA397564065PRPF8c.6531G>T (p.Trp2177Cys)
c.2459G>T
c.*6434G>T (n.*6434G>T)
n.3025G>T
c.6564G>T (p.Trp2188Cys)
c.6576G>T (p.Trp2192Cys)
c.6711G>T (p.Trp2237Cys)
c.20G>T
n.700G>T
17g.1651250C>GCA397564066PRPF8c.6531G>C (p.Trp2177Cys)
c.2459G>C
c.*6434G>C (n.*6434G>C)
n.3025G>C
c.6564G>C (p.Trp2188Cys)
c.6576G>C (p.Trp2192Cys)
c.6711G>C (p.Trp2237Cys)
c.20G>C
n.700G>C
17g.1651250C>TCA397564067PRPF8c.6531G>A (p.Trp2177Ter)
c.2459G>A
c.*6434G>A (n.*6434G>A)
n.3025G>A
c.6564G>A (p.Trp2188Ter)
c.6576G>A (p.Trp2192Ter)
c.6711G>A (p.Trp2237Ter)
c.20G>A
n.700G>A
17g.1651251C>ACA397564071PRPF8c.6530G>T (p.Trp2177Leu)
c.2458G>T
c.*6433G>T (n.*6433G>T)
n.3024G>T
c.6563G>T (p.Trp2188Leu)
c.6575G>T (p.Trp2192Leu)
c.6710G>T (p.Trp2237Leu)
c.19G>T
n.699G>T
17g.1651251C>GCA397564072PRPF8c.6530G>C (p.Trp2177Ser)
c.2458G>C
c.*6433G>C (n.*6433G>C)
n.3024G>C
c.6563G>C (p.Trp2188Ser)
c.6575G>C (p.Trp2192Ser)
c.6710G>C (p.Trp2237Ser)
c.19G>C
n.699G>C
17g.1651251C>TCA397564069PRPF8c.6530G>A (p.Trp2177Ter)
c.2458G>A
c.*6433G>A (n.*6433G>A)
n.3024G>A
c.6563G>A (p.Trp2188Ter)
c.6575G>A (p.Trp2192Ter)
c.6710G>A (p.Trp2237Ter)
c.19G>A
n.699G>A
17g.1651252A>CCA397564073PRPF8c.6529T>G (p.Trp2177Gly)
c.2457T>G
c.*6432T>G (n.*6432T>G)
n.3023T>G
c.6562T>G (p.Trp2188Gly)
c.6574T>G (p.Trp2192Gly)
c.6709T>G (p.Trp2237Gly)
c.18T>G
n.698T>G
17g.1651252A>GCA397564074PRPF8c.6529T>C (p.Trp2177Arg)
c.2457T>C
c.*6432T>C (n.*6432T>C)
n.3023T>C
c.6562T>C (p.Trp2188Arg)
c.6574T>C (p.Trp2192Arg)
c.6709T>C (p.Trp2237Arg)
c.18T>C
n.698T>C
17g.1651252A>TCA397564076PRPF8c.6529T>A (p.Trp2177Arg)
c.2457T>A
c.*6432T>A (n.*6432T>A)
n.3023T>A
c.6562T>A (p.Trp2188Arg)
c.6574T>A (p.Trp2192Arg)
c.6709T>A (p.Trp2237Arg)
c.18T>A
n.698T>A
17g.1651253T>ACA397564078PRPF8c.6528A>T (p.Glu2176Asp)
c.2456A>T
c.*6431A>T (n.*6431A>T)
n.3022A>T
c.6561A>T (p.Glu2187Asp)
c.6573A>T (p.Glu2191Asp)
c.6708A>T (p.Glu2236Asp)
c.17A>T
n.697A>T
17g.1651253T>CCA8271109PRPF8c.6528A>G (p.Glu2176=)
c.2456A>G
c.*6431A>G (n.*6431A>G)
n.3022A>G
c.6561A>G (p.Glu2187=)
c.6573A>G (p.Glu2191=)
c.6708A>G (p.Glu2236=)
c.17A>G
n.697A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1651253T>GCA397564080PRPF8c.6528A>C (p.Glu2176Asp)
c.2456A>C
c.*6431A>C (n.*6431A>C)
n.3022A>C
c.6561A>C (p.Glu2187Asp)
c.6573A>C (p.Glu2191Asp)
c.6708A>C (p.Glu2236Asp)
c.17A>C
n.697A>C
17g.1651253T=CA2242977807PRPF8c.6528A= (p.Glu2176=)
c.2456A=
c.*6431A= (n.*6431A=)
n.3022A=
c.6561A= (p.Glu2187=)
c.6573A= (p.Glu2191=)
c.6708A= (p.Glu2236=)
c.17A=
n.697A=
17g.1651254T>ACA397564081PRPF8c.6527A>T (p.Glu2176Val)
c.2455A>T
c.*6430A>T (n.*6430A>T)
n.3021A>T
c.6560A>T (p.Glu2187Val)
c.6572A>T (p.Glu2191Val)
c.6707A>T (p.Glu2236Val)
c.16A>T
n.696A>T
17g.1651254T>CCA397564082PRPF8c.6527A>G (p.Glu2176Gly)
c.2455A>G
c.*6430A>G (n.*6430A>G)
n.3021A>G
c.6560A>G (p.Glu2187Gly)
c.6572A>G (p.Glu2191Gly)
c.6707A>G (p.Glu2236Gly)
c.16A>G
n.696A>G
17g.1651254T>GCA397564084PRPF8c.6527A>C (p.Glu2176Ala)
c.2455A>C
c.*6430A>C (n.*6430A>C)
n.3021A>C
c.6560A>C (p.Glu2187Ala)
c.6572A>C (p.Glu2191Ala)
c.6707A>C (p.Glu2236Ala)
c.16A>C
n.696A>C
17g.1651255C>ACA397564086PRPF8c.6526G>T (p.Glu2176Ter)
c.2454G>T
c.*6429G>T (n.*6429G>T)
n.3020G>T
c.6559G>T (p.Glu2187Ter)
c.6571G>T (p.Glu2191Ter)
c.6706G>T (p.Glu2236Ter)
c.15G>T
n.695G>T
17g.1651255C=CA2242977809PRPF8c.6526G= (p.Glu2176=)
c.2454G=
c.*6429G= (n.*6429G=)
n.3020G=
c.6559G= (p.Glu2187=)
c.6571G= (p.Glu2191=)
c.6706G= (p.Glu2236=)
c.15G=
n.695G=
17g.1651255C>GCA397564087PRPF8c.6526G>C (p.Glu2176Gln)
c.2454G>C
c.*6429G>C (n.*6429G>C)
n.3020G>C
c.6559G>C (p.Glu2187Gln)
c.6571G>C (p.Glu2191Gln)
c.6706G>C (p.Glu2236Gln)
c.15G>C
n.695G>C
17g.1651255C>TCA397564089PRPF8c.6526G>A (p.Glu2176Lys)
c.2454G>A
c.*6429G>A (n.*6429G>A)
n.3020G>A
c.6559G>A (p.Glu2187Lys)
c.6571G>A (p.Glu2191Lys)
c.6706G>A (p.Glu2236Lys)
c.15G>A
n.695G>A
 ClinVar dbSNP gnomAD v4
17g.1651256G>ACA497388925PRPF8c.6525C>T (p.Tyr2175=)
c.2453C>T
c.*6428C>T (n.*6428C>T)
n.3019C>T
c.6558C>T (p.Tyr2186=)
c.6570C>T (p.Tyr2190=)
c.6705C>T (p.Tyr2235=)
c.14C>T
n.694C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.1651256G>CCA397564091PRPF8c.6525C>G (p.Tyr2175Ter)
c.2453C>G
c.*6428C>G (n.*6428C>G)
n.3019C>G
c.6558C>G (p.Tyr2186Ter)
c.6570C>G (p.Tyr2190Ter)
c.6705C>G (p.Tyr2235Ter)
c.14C>G
n.694C>G
17g.1651256G=CA2242977811PRPF8c.6525C= (p.Tyr2175=)
c.2453C=
c.*6428C= (n.*6428C=)
n.3019C=
c.6558C= (p.Tyr2186=)
c.6570C= (p.Tyr2190=)
c.6705C= (p.Tyr2235=)
c.14C=
n.694C=
17g.1651256G>TCA397564090PRPF8c.6525C>A (p.Tyr2175Ter)
c.2453C>A
c.*6428C>A (n.*6428C>A)
n.3019C>A
c.6558C>A (p.Tyr2186Ter)
c.6570C>A (p.Tyr2190Ter)
c.6705C>A (p.Tyr2235Ter)
c.14C>A
n.694C>A
17g.1651257T>ACA397564093PRPF8c.6524A>T (p.Tyr2175Phe)
c.2452A>T
c.*6427A>T (n.*6427A>T)
n.3018A>T
c.6557A>T (p.Tyr2186Phe)
c.6569A>T (p.Tyr2190Phe)
c.6704A>T (p.Tyr2235Phe)
c.13A>T
n.693A>T
17g.1651257T>CCA397564094PRPF8c.6524A>G (p.Tyr2175Cys)
c.2452A>G
c.*6427A>G (n.*6427A>G)
n.3018A>G
c.6557A>G (p.Tyr2186Cys)
c.6569A>G (p.Tyr2190Cys)
c.6704A>G (p.Tyr2235Cys)
c.13A>G
n.693A>G
17g.1651257T>GCA397564096PRPF8c.6524A>C (p.Tyr2175Ser)
c.2452A>C
c.*6427A>C (n.*6427A>C)
n.3018A>C
c.6557A>C (p.Tyr2186Ser)
c.6569A>C (p.Tyr2190Ser)
c.6704A>C (p.Tyr2235Ser)
c.13A>C
n.693A>C
17g.1651258A>CCA397564097PRPF8c.6523T>G (p.Tyr2175Asp)
c.2451T>G
c.*6426T>G (n.*6426T>G)
n.3017T>G
c.6556T>G (p.Tyr2186Asp)
c.6568T>G (p.Tyr2190Asp)
c.6703T>G (p.Tyr2235Asp)
c.12T>G
n.692T>G
17g.1651258A>GCA397564099PRPF8c.6523T>C (p.Tyr2175His)
c.2451T>C
c.*6426T>C (n.*6426T>C)
n.3017T>C
c.6556T>C (p.Tyr2186His)
c.6568T>C (p.Tyr2190His)
c.6703T>C (p.Tyr2235His)
c.12T>C
n.692T>C
17g.1651258A>TCA397564100PRPF8c.6523T>A (p.Tyr2175Asn)
c.2451T>A
c.*6426T>A (n.*6426T>A)
n.3017T>A
c.6556T>A (p.Tyr2186Asn)
c.6568T>A (p.Tyr2190Asn)
c.6703T>A (p.Tyr2235Asn)
c.12T>A
n.692T>A
17g.1651259G>ACA497388926PRPF8c.6522C>T (p.Gly2174=)
c.2450C>T
c.*6425C>T (n.*6425C>T)
n.3016C>T
c.6555C>T (p.Gly2185=)
c.6567C>T (p.Gly2189=)
c.6702C>T (p.Gly2234=)
c.11C>T
n.691C>T
17g.1651259G>CCA497388927PRPF8c.6522C>G (p.Gly2174=)
c.2450C>G
c.*6425C>G (n.*6425C>G)
n.3016C>G
c.6555C>G (p.Gly2185=)
c.6567C>G (p.Gly2189=)
c.6702C>G (p.Gly2234=)
c.11C>G
n.691C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.1651259G=CA2242977814PRPF8c.6522C= (p.Gly2174=)
c.2450C=
c.*6425C= (n.*6425C=)
n.3016C=
c.6555C= (p.Gly2185=)
c.6567C= (p.Gly2189=)
c.6702C= (p.Gly2234=)
c.11C=
n.691C=
17g.1651259G>TCA497388928PRPF8c.6522C>A (p.Gly2174=)
c.2450C>A
c.*6425C>A (n.*6425C>A)
n.3016C>A
c.6555C>A (p.Gly2185=)
c.6567C>A (p.Gly2189=)
c.6702C>A (p.Gly2234=)
c.11C>A
n.691C>A
17g.1651260C>ACA397564102PRPF8c.6521G>T (p.Gly2174Val)
c.2449G>T
c.*6424G>T (n.*6424G>T)
n.3015G>T
c.6554G>T (p.Gly2185Val)
c.6566G>T (p.Gly2189Val)
c.6701G>T (p.Gly2234Val)
c.10G>T
n.690G>T
17g.1651260C>GCA397564103PRPF8c.6521G>C (p.Gly2174Ala)
c.2449G>C
c.*6424G>C (n.*6424G>C)
n.3015G>C
c.6554G>C (p.Gly2185Ala)
c.6566G>C (p.Gly2189Ala)
c.6701G>C (p.Gly2234Ala)
c.10G>C
n.690G>C
17g.1651260C>TCA397564105PRPF8c.6521G>A (p.Gly2174Asp)
c.2449G>A
c.*6424G>A (n.*6424G>A)
n.3015G>A
c.6554G>A (p.Gly2185Asp)
c.6566G>A (p.Gly2189Asp)
c.6701G>A (p.Gly2234Asp)
c.10G>A
n.690G>A
17g.1651261C>ACA397564106PRPF8c.6520G>T (p.Gly2174Cys)
c.2448G>T
c.*6423G>T (n.*6423G>T)
n.3014G>T
c.6553G>T (p.Gly2185Cys)
c.6565G>T (p.Gly2189Cys)
c.6700G>T (p.Gly2234Cys)
c.9G>T
n.689G>T
17g.1651261C>GCA397564108PRPF8c.6520G>C (p.Gly2174Arg)
c.2448G>C
c.*6423G>C (n.*6423G>C)
n.3014G>C
c.6553G>C (p.Gly2185Arg)
c.6565G>C (p.Gly2189Arg)
c.6700G>C (p.Gly2234Arg)
c.9G>C
n.689G>C
17g.1651261C>TCA397564109PRPF8c.6520G>A (p.Gly2174Ser)
c.2448G>A
c.*6423G>A (n.*6423G>A)
n.3014G>A
c.6553G>A (p.Gly2185Ser)
c.6565G>A (p.Gly2189Ser)
c.6700G>A (p.Gly2234Ser)
c.9G>A
n.689G>A
17g.1651262A=CA2242977816PRPF8c.6519T= (p.Ser2173=)
c.2447T=
c.*6422T= (n.*6422T=)
n.3013T=
c.6552T= (p.Ser2184=)
c.6564T= (p.Ser2188=)
c.6699T= (p.Ser2233=)
c.8T=
n.688T=
17g.1651262A>CCA397564110PRPF8c.6519T>G (p.Ser2173Arg)
c.2447T>G
c.*6422T>G (n.*6422T>G)
n.3013T>G
c.6552T>G (p.Ser2184Arg)
c.6564T>G (p.Ser2188Arg)
c.6699T>G (p.Ser2233Arg)
c.8T>G
n.688T>G
17g.1651262A>GCA497388929PRPF8c.6519T>C (p.Ser2173=)
c.2447T>C
c.*6422T>C (n.*6422T>C)
n.3013T>C
c.6552T>C (p.Ser2184=)
c.6564T>C (p.Ser2188=)
c.6699T>C (p.Ser2233=)
c.8T>C
n.688T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.1651262A>TCA397564111PRPF8c.6519T>A (p.Ser2173Arg)
c.2447T>A
c.*6422T>A (n.*6422T>A)
n.3013T>A
c.6552T>A (p.Ser2184Arg)
c.6564T>A (p.Ser2188Arg)
c.6699T>A (p.Ser2233Arg)
c.8T>A
n.688T>A

Number of alleles fetched