Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
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

Number of alleles fetched