Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.1651132A>C | CA397563655 | PRPF8 | c.6649T>G (p.Ser2217Ala) c.2577T>G c.*6552T>G (n.*6552T>G) n.3143T>G c.6682T>G (p.Ser2228Ala) c.6694T>G (p.Ser2232Ala) c.6829T>G (p.Ser2277Ala) c.138T>G n.818T>G | |
17 | g.1651132A>G | CA397563657 | PRPF8 | c.6649T>C (p.Ser2217Pro) c.2577T>C c.*6552T>C (n.*6552T>C) n.3143T>C c.6682T>C (p.Ser2228Pro) c.6694T>C (p.Ser2232Pro) c.6829T>C (p.Ser2277Pro) c.138T>C n.818T>C | |
17 | g.1651132A>T | CA397563656 | PRPF8 | c.6649T>A (p.Ser2217Thr) c.2577T>A c.*6552T>A (n.*6552T>A) n.3143T>A c.6682T>A (p.Ser2228Thr) c.6694T>A (p.Ser2232Thr) c.6829T>A (p.Ser2277Thr) c.138T>A n.818T>A | |
17 | g.1651133C>A | CA397563659 | PRPF8 | c.6648G>T (p.Gln2216His) c.2576G>T c.*6551G>T (n.*6551G>T) n.3142G>T c.6681G>T (p.Gln2227His) c.6693G>T (p.Gln2231His) c.6828G>T (p.Gln2276His) c.137G>T n.817G>T | |
17 | g.1651133C>G | CA397563660 | PRPF8 | c.6648G>C (p.Gln2216His) c.2576G>C c.*6551G>C (n.*6551G>C) n.3142G>C c.6681G>C (p.Gln2227His) c.6693G>C (p.Gln2231His) c.6828G>C (p.Gln2276His) c.137G>C n.817G>C | |
17 | g.1651133C>T | CA497388863 | PRPF8 | c.6648G>A (p.Gln2216=) c.2576G>A c.*6551G>A (n.*6551G>A) n.3142G>A c.6681G>A (p.Gln2227=) c.6693G>A (p.Gln2231=) c.6828G>A (p.Gln2276=) c.137G>A n.817G>A | |
17 | g.1651134T>A | CA397563661 | PRPF8 | c.6647A>T (p.Gln2216Leu) c.2575A>T c.*6550A>T (n.*6550A>T) n.3141A>T c.6680A>T (p.Gln2227Leu) c.6692A>T (p.Gln2231Leu) c.6827A>T (p.Gln2276Leu) c.136A>T n.816A>T | |
17 | g.1651134T>C | CA397563663 | PRPF8 | c.6647A>G (p.Gln2216Arg) c.2575A>G c.*6550A>G (n.*6550A>G) n.3141A>G c.6680A>G (p.Gln2227Arg) c.6692A>G (p.Gln2231Arg) c.6827A>G (p.Gln2276Arg) c.136A>G n.816A>G | gnomAD v4 |
17 | g.1651134T>G | CA397563664 | PRPF8 | c.6647A>C (p.Gln2216Pro) c.2575A>C c.*6550A>C (n.*6550A>C) n.3141A>C c.6680A>C (p.Gln2227Pro) c.6692A>C (p.Gln2231Pro) c.6827A>C (p.Gln2276Pro) c.136A>C n.816A>C | gnomAD v4 |
17 | g.1651135G>A | CA397563666 | PRPF8 | c.6646C>T (p.Gln2216Ter) c.2574C>T c.*6549C>T (n.*6549C>T) n.3140C>T c.6679C>T (p.Gln2227Ter) c.6691C>T (p.Gln2231Ter) c.6826C>T (p.Gln2276Ter) c.135C>T n.815C>T | |
17 | g.1651135G>C | CA397563667 | PRPF8 | c.6646C>G (p.Gln2216Glu) c.2574C>G c.*6549C>G (n.*6549C>G) n.3140C>G c.6679C>G (p.Gln2227Glu) c.6691C>G (p.Gln2231Glu) c.6826C>G (p.Gln2276Glu) c.135C>G n.815C>G | |
17 | g.1651135G>T | CA397563669 | PRPF8 | c.6646C>A (p.Gln2216Lys) c.2574C>A c.*6549C>A (n.*6549C>A) n.3140C>A c.6679C>A (p.Gln2227Lys) c.6691C>A (p.Gln2231Lys) c.6826C>A (p.Gln2276Lys) c.135C>A n.815C>A | |
17 | g.1651136G>A | CA8271091 | PRPF8 | c.6645C>T (p.Ala2215=) c.2573C>T c.*6548C>T (n.*6548C>T) n.3139C>T c.6678C>T (p.Ala2226=) c.6690C>T (p.Ala2230=) c.6825C>T (p.Ala2275=) c.134C>T n.814C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1651136G>C | CA497388864 | PRPF8 | c.6645C>G (p.Ala2215=) c.2573C>G c.*6548C>G (n.*6548C>G) n.3139C>G c.6678C>G (p.Ala2226=) c.6690C>G (p.Ala2230=) c.6825C>G (p.Ala2275=) c.134C>G n.814C>G | gnomAD v4 |
17 | g.1651136G= | CA2242977662 | PRPF8 | c.6645C= (p.Ala2215=) c.2573C= c.*6548C= (n.*6548C=) n.3139C= c.6678C= (p.Ala2226=) c.6690C= (p.Ala2230=) c.6825C= (p.Ala2275=) c.134C= n.814C= | |
17 | g.1651136G>T | CA497388865 | PRPF8 | c.6645C>A (p.Ala2215=) c.2573C>A c.*6548C>A (n.*6548C>A) n.3139C>A c.6678C>A (p.Ala2226=) c.6690C>A (p.Ala2230=) c.6825C>A (p.Ala2275=) c.134C>A n.814C>A | |
17 | g.1651137G>A | CA397563674 | PRPF8 | c.6644C>T (p.Ala2215Val) c.2572C>T c.*6547C>T (n.*6547C>T) n.3138C>T c.6677C>T (p.Ala2226Val) c.6689C>T (p.Ala2230Val) c.6824C>T (p.Ala2275Val) c.133C>T n.813C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.1651137G>C | CA397563673 | PRPF8 | c.6644C>G (p.Ala2215Gly) c.2572C>G c.*6547C>G (n.*6547C>G) n.3138C>G c.6677C>G (p.Ala2226Gly) c.6689C>G (p.Ala2230Gly) c.6824C>G (p.Ala2275Gly) c.133C>G n.813C>G | |
17 | g.1651137G= | CA2242977666 | PRPF8 | c.6644C= (p.Ala2215=) c.2572C= c.*6547C= (n.*6547C=) n.3138C= c.6677C= (p.Ala2226=) c.6689C= (p.Ala2230=) c.6824C= (p.Ala2275=) c.133C= n.813C= | |
17 | g.1651137G>T | CA397563671 | PRPF8 | c.6644C>A (p.Ala2215Asp) c.2572C>A c.*6547C>A (n.*6547C>A) n.3138C>A c.6677C>A (p.Ala2226Asp) c.6689C>A (p.Ala2230Asp) c.6824C>A (p.Ala2275Asp) c.133C>A n.813C>A | |
17 | g.1651138C>A | CA397563676 | PRPF8 | c.6643G>T (p.Ala2215Ser) c.2571G>T c.*6546G>T (n.*6546G>T) n.3137G>T c.6676G>T (p.Ala2226Ser) c.6688G>T (p.Ala2230Ser) c.6823G>T (p.Ala2275Ser) c.132G>T n.812G>T | dbSNP |
17 | g.1651138C= | CA2242977671 | PRPF8 | c.6643G= (p.Ala2215=) c.2571G= c.*6546G= (n.*6546G=) n.3137G= c.6676G= (p.Ala2226=) c.6688G= (p.Ala2230=) c.6823G= (p.Ala2275=) c.132G= n.812G= | |
17 | g.1651138C>G | CA397563678 | PRPF8 | c.6643G>C (p.Ala2215Pro) c.2571G>C c.*6546G>C (n.*6546G>C) n.3137G>C c.6676G>C (p.Ala2226Pro) c.6688G>C (p.Ala2230Pro) c.6823G>C (p.Ala2275Pro) c.132G>C n.812G>C | |
17 | g.1651138C>T | CA397563679 | PRPF8 | c.6643G>A (p.Ala2215Thr) c.2571G>A c.*6546G>A (n.*6546G>A) n.3137G>A c.6676G>A (p.Ala2226Thr) c.6688G>A (p.Ala2230Thr) c.6823G>A (p.Ala2275Thr) c.132G>A n.812G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.1651139A>C | CA497388866 | PRPF8 | c.6642T>G (p.Pro2214=) c.2570T>G c.*6545T>G (n.*6545T>G) n.3136T>G c.6675T>G (p.Pro2225=) c.6687T>G (p.Pro2229=) c.6822T>G (p.Pro2274=) c.131T>G n.811T>G | |
17 | g.1651139A>G | CA497388868 | PRPF8 | c.6642T>C (p.Pro2214=) c.2570T>C c.*6545T>C (n.*6545T>C) n.3136T>C c.6675T>C (p.Pro2225=) c.6687T>C (p.Pro2229=) c.6822T>C (p.Pro2274=) c.131T>C n.811T>C | |
17 | g.1651139A>T | CA497388867 | PRPF8 | c.6642T>A (p.Pro2214=) c.2570T>A c.*6545T>A (n.*6545T>A) n.3136T>A c.6675T>A (p.Pro2225=) c.6687T>A (p.Pro2229=) c.6822T>A (p.Pro2274=) c.131T>A n.811T>A | |
17 | g.1651140G>A | CA397563680 | PRPF8 | c.6641C>T (p.Pro2214Leu) c.2569C>T c.*6544C>T (n.*6544C>T) n.3135C>T c.6674C>T (p.Pro2225Leu) c.6686C>T (p.Pro2229Leu) c.6821C>T (p.Pro2274Leu) c.130C>T n.810C>T | ClinVar dbSNP COSMIC |
17 | g.1651140G>C | CA397563682 | PRPF8 | c.6641C>G (p.Pro2214Arg) c.2569C>G c.*6544C>G (n.*6544C>G) n.3135C>G c.6674C>G (p.Pro2225Arg) c.6686C>G (p.Pro2229Arg) c.6821C>G (p.Pro2274Arg) c.130C>G n.810C>G | |
17 | g.1651140G= | CA2242977674 | PRPF8 | c.6641C= (p.Pro2214=) c.2569C= c.*6544C= (n.*6544C=) n.3135C= c.6674C= (p.Pro2225=) c.6686C= (p.Pro2229=) c.6821C= (p.Pro2274=) c.130C= n.810C= | |
17 | g.1651140G>T | CA397563683 | PRPF8 | c.6641C>A (p.Pro2214His) c.2569C>A c.*6544C>A (n.*6544C>A) n.3135C>A c.6674C>A (p.Pro2225His) c.6686C>A (p.Pro2229His) c.6821C>A (p.Pro2274His) c.130C>A n.810C>A | |
17 | g.1651141G>A | CA397563687 | PRPF8 | c.6640C>T (p.Pro2214Ser) c.2568C>T c.*6543C>T (n.*6543C>T) n.3134C>T c.6673C>T (p.Pro2225Ser) c.6685C>T (p.Pro2229Ser) c.6820C>T (p.Pro2274Ser) c.129C>T n.809C>T | |
17 | g.1651141G>C | CA397563686 | PRPF8 | c.6640C>G (p.Pro2214Ala) c.2568C>G c.*6543C>G (n.*6543C>G) n.3134C>G c.6673C>G (p.Pro2225Ala) c.6685C>G (p.Pro2229Ala) c.6820C>G (p.Pro2274Ala) c.129C>G n.809C>G | |
17 | g.1651141G>T | CA397563685 | PRPF8 | c.6640C>A (p.Pro2214Thr) c.2568C>A c.*6543C>A (n.*6543C>A) n.3134C>A c.6673C>A (p.Pro2225Thr) c.6685C>A (p.Pro2229Thr) c.6820C>A (p.Pro2274Thr) c.129C>A n.809C>A | |
17 | g.1651142G>A | CA286849889 | PRPF8 | c.6639C>T (p.Val2213=) c.2567C>T c.*6542C>T (n.*6542C>T) n.3133C>T c.6672C>T (p.Val2224=) c.6684C>T (p.Val2228=) c.6819C>T (p.Val2273=) c.128C>T n.808C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.1651142G>C | CA497388869 | PRPF8 | c.6639C>G (p.Val2213=) c.2567C>G c.*6542C>G (n.*6542C>G) n.3133C>G c.6672C>G (p.Val2224=) c.6684C>G (p.Val2228=) c.6819C>G (p.Val2273=) c.128C>G n.808C>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.1651142G= | CA2242977681 | PRPF8 | c.6639C= (p.Val2213=) c.2567C= c.*6542C= (n.*6542C=) n.3133C= c.6672C= (p.Val2224=) c.6684C= (p.Val2228=) c.6819C= (p.Val2273=) c.128C= n.808C= | |
17 | g.1651142G>T | CA497388870 | PRPF8 | c.6639C>A (p.Val2213=) c.2567C>A c.*6542C>A (n.*6542C>A) n.3133C>A c.6672C>A (p.Val2224=) c.6684C>A (p.Val2228=) c.6819C>A (p.Val2273=) c.128C>A n.808C>A | |
17 | g.1651143A>C | CA397563689 | PRPF8 | c.6638T>G (p.Val2213Gly) c.2566T>G c.*6541T>G (n.*6541T>G) n.3132T>G c.6671T>G (p.Val2224Gly) c.6683T>G (p.Val2228Gly) c.6818T>G (p.Val2273Gly) c.127T>G n.807T>G | |
17 | g.1651143A>G | CA397563691 | PRPF8 | c.6638T>C (p.Val2213Ala) c.2566T>C c.*6541T>C (n.*6541T>C) n.3132T>C c.6671T>C (p.Val2224Ala) c.6683T>C (p.Val2228Ala) c.6818T>C (p.Val2273Ala) c.127T>C n.807T>C | |
17 | g.1651143A>T | CA397563693 | PRPF8 | c.6638T>A (p.Val2213Asp) c.2566T>A c.*6541T>A (n.*6541T>A) n.3132T>A c.6671T>A (p.Val2224Asp) c.6683T>A (p.Val2228Asp) c.6818T>A (p.Val2273Asp) c.127T>A n.807T>A | |
17 | g.1651144C>A | CA397563694 | PRPF8 | c.6637G>T (p.Val2213Phe) c.2565G>T c.*6540G>T (n.*6540G>T) n.3131G>T c.6670G>T (p.Val2224Phe) c.6682G>T (p.Val2228Phe) c.6817G>T (p.Val2273Phe) c.126G>T n.806G>T | |
17 | g.1651144C>G | CA397563696 | PRPF8 | c.6637G>C (p.Val2213Leu) c.2565G>C c.*6540G>C (n.*6540G>C) n.3131G>C c.6670G>C (p.Val2224Leu) c.6682G>C (p.Val2228Leu) c.6817G>C (p.Val2273Leu) c.126G>C n.806G>C | |
17 | g.1651144C>T | CA397563697 | PRPF8 | c.6637G>A (p.Val2213Ile) c.2565G>A c.*6540G>A (n.*6540G>A) n.3131G>A c.6670G>A (p.Val2224Ile) c.6682G>A (p.Val2228Ile) c.6817G>A (p.Val2273Ile) c.126G>A n.806G>A | |
17 | g.1651145C>A | CA397563699 | PRPF8 | c.6636G>T (p.Met2212Ile) c.2564G>T c.*6539G>T (n.*6539G>T) n.3130G>T c.6669G>T (p.Met2223Ile) c.6681G>T (p.Met2227Ile) c.6816G>T (p.Met2272Ile) c.125G>T n.805G>T | |
17 | g.1651145C>G | CA397563701 | PRPF8 | c.6636G>C (p.Met2212Ile) c.2564G>C c.*6539G>C (n.*6539G>C) n.3130G>C c.6669G>C (p.Met2223Ile) c.6681G>C (p.Met2227Ile) c.6816G>C (p.Met2272Ile) c.125G>C n.805G>C | |
17 | g.1651145C>T | CA397563700 | PRPF8 | c.6636G>A (p.Met2212Ile) c.2564G>A c.*6539G>A (n.*6539G>A) n.3130G>A c.6669G>A (p.Met2223Ile) c.6681G>A (p.Met2227Ile) c.6816G>A (p.Met2272Ile) c.125G>A n.805G>A | |
17 | g.1651146A= | CA2242977686 | PRPF8 | c.6635T= (p.Met2212=) c.2563T= c.*6538T= (n.*6538T=) n.3129T= c.6668T= (p.Met2223=) c.6680T= (p.Met2227=) c.6815T= (p.Met2272=) c.124T= n.804T= | |
17 | g.1651146A>C | CA397563702 | PRPF8 | c.6635T>G (p.Met2212Arg) c.2563T>G c.*6538T>G (n.*6538T>G) n.3129T>G c.6668T>G (p.Met2223Arg) c.6680T>G (p.Met2227Arg) c.6815T>G (p.Met2272Arg) c.124T>G n.804T>G | |
17 | g.1651146A>G | CA397563703 | PRPF8 | c.6635T>C (p.Met2212Thr) c.2563T>C c.*6538T>C (n.*6538T>C) n.3129T>C c.6668T>C (p.Met2223Thr) c.6680T>C (p.Met2227Thr) c.6815T>C (p.Met2272Thr) c.124T>C n.804T>C | |
17 | g.1651146A>T | CA397563704 | PRPF8 | c.6635T>A (p.Met2212Lys) c.2563T>A c.*6538T>A (n.*6538T>A) n.3129T>A c.6668T>A (p.Met2223Lys) c.6680T>A (p.Met2227Lys) c.6815T>A (p.Met2272Lys) c.124T>A n.804T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1651147T>A | CA397563705 | PRPF8 | c.6634A>T (p.Met2212Leu) c.2562A>T c.*6537A>T (n.*6537A>T) n.3128A>T c.6667A>T (p.Met2223Leu) c.6679A>T (p.Met2227Leu) c.6814A>T (p.Met2272Leu) c.123A>T n.803A>T | |
17 | g.1651147T>C | CA397563707 | PRPF8 | c.6634A>G (p.Met2212Val) c.2562A>G c.*6537A>G (n.*6537A>G) n.3128A>G c.6667A>G (p.Met2223Val) c.6679A>G (p.Met2227Val) c.6814A>G (p.Met2272Val) c.123A>G n.803A>G | |
17 | g.1651147T>G | CA397563708 | PRPF8 | c.6634A>C (p.Met2212Leu) c.2562A>C c.*6537A>C (n.*6537A>C) n.3128A>C c.6667A>C (p.Met2223Leu) c.6679A>C (p.Met2227Leu) c.6814A>C (p.Met2272Leu) c.123A>C n.803A>C | |
17 | g.1651148G>A | CA497388871 | PRPF8 | c.6633C>T (p.Phe2211=) c.2561C>T c.*6536C>T (n.*6536C>T) n.3127C>T c.6666C>T (p.Phe2222=) c.6678C>T (p.Phe2226=) c.6813C>T (p.Phe2271=) c.122C>T n.802C>T | |
17 | g.1651148G>C | CA397563710 | PRPF8 | c.6633C>G (p.Phe2211Leu) c.2561C>G c.*6536C>G (n.*6536C>G) n.3127C>G c.6666C>G (p.Phe2222Leu) c.6678C>G (p.Phe2226Leu) c.6813C>G (p.Phe2271Leu) c.122C>G n.802C>G | |
17 | g.1651148G>T | CA397563711 | PRPF8 | c.6633C>A (p.Phe2211Leu) c.2561C>A c.*6536C>A (n.*6536C>A) n.3127C>A c.6666C>A (p.Phe2222Leu) c.6678C>A (p.Phe2226Leu) c.6813C>A (p.Phe2271Leu) c.122C>A n.802C>A | |
17 | g.1651152_1651154del | CA2635249017 | PRPF8 | c.6631_6633del (p.Phe2211del) c.2559_2561del c.*6534_*6536del (n.*6534_*6536del) n.3125_3127del c.6664_6666del (p.Phe2222del) c.6676_6678del (p.Phe2226del) c.6811_6813del (p.Phe2271del) c.120_122del n.800_802del | gnomAD v4 |
17 | g.1651149A>C | CA397563713 | PRPF8 | c.6632T>G (p.Phe2211Cys) c.2560T>G c.*6535T>G (n.*6535T>G) n.3126T>G c.6665T>G (p.Phe2222Cys) c.6677T>G (p.Phe2226Cys) c.6812T>G (p.Phe2271Cys) c.121T>G n.801T>G | |
17 | g.1651149A>G | CA397563714 | PRPF8 | c.6632T>C (p.Phe2211Ser) c.2560T>C c.*6535T>C (n.*6535T>C) n.3126T>C c.6665T>C (p.Phe2222Ser) c.6677T>C (p.Phe2226Ser) c.6812T>C (p.Phe2271Ser) c.121T>C n.801T>C | |
17 | g.1651149A>T | CA397563715 | PRPF8 | c.6632T>A (p.Phe2211Tyr) c.2560T>A c.*6535T>A (n.*6535T>A) n.3126T>A c.6665T>A (p.Phe2222Tyr) c.6677T>A (p.Phe2226Tyr) c.6812T>A (p.Phe2271Tyr) c.121T>A n.801T>A | |
17 | g.1651150A>C | CA397563717 | PRPF8 | c.6631T>G (p.Phe2211Val) c.2559T>G c.*6534T>G (n.*6534T>G) n.3125T>G c.6664T>G (p.Phe2222Val) c.6676T>G (p.Phe2226Val) c.6811T>G (p.Phe2271Val) c.120T>G n.800T>G | |
17 | g.1651150A>G | CA397563721 | PRPF8 | c.6631T>C (p.Phe2211Leu) c.2559T>C c.*6534T>C (n.*6534T>C) n.3125T>C c.6664T>C (p.Phe2222Leu) c.6676T>C (p.Phe2226Leu) c.6811T>C (p.Phe2271Leu) c.120T>C n.800T>C | |
17 | g.1651150A>T | CA397563719 | PRPF8 | c.6631T>A (p.Phe2211Ile) c.2559T>A c.*6534T>A (n.*6534T>A) n.3125T>A c.6664T>A (p.Phe2222Ile) c.6676T>A (p.Phe2226Ile) c.6811T>A (p.Phe2271Ile) c.120T>A n.800T>A | |
17 | g.1651151G>A | CA497388872 | PRPF8 | c.6630C>T (p.Phe2210=) c.2558C>T c.*6533C>T (n.*6533C>T) n.3124C>T c.6663C>T (p.Phe2221=) c.6675C>T (p.Phe2225=) c.6810C>T (p.Phe2270=) c.119C>T n.799C>T | gnomAD v4 |
17 | g.1651151G>C | CA397563722 | PRPF8 | c.6630C>G (p.Phe2210Leu) c.2558C>G c.*6533C>G (n.*6533C>G) n.3124C>G c.6663C>G (p.Phe2221Leu) c.6675C>G (p.Phe2225Leu) c.6810C>G (p.Phe2270Leu) c.119C>G n.799C>G | |
17 | g.1651151G>T | CA397563723 | PRPF8 | c.6630C>A (p.Phe2210Leu) c.2558C>A c.*6533C>A (n.*6533C>A) n.3124C>A c.6663C>A (p.Phe2221Leu) c.6675C>A (p.Phe2225Leu) c.6810C>A (p.Phe2270Leu) c.119C>A n.799C>A | |
17 | g.1651152A= | CA2242977689 | PRPF8 | c.6629T= (p.Phe2210=) c.2557T= c.*6532T= (n.*6532T=) n.3123T= c.6662T= (p.Phe2221=) c.6674T= (p.Phe2225=) c.6809T= (p.Phe2270=) c.118T= n.798T= | |
17 | g.1651152A>C | CA8271092 | PRPF8 | c.6629T>G (p.Phe2210Cys) c.2557T>G c.*6532T>G (n.*6532T>G) n.3123T>G c.6662T>G (p.Phe2221Cys) c.6674T>G (p.Phe2225Cys) c.6809T>G (p.Phe2270Cys) c.118T>G n.798T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1651152A>G | CA397563725 | PRPF8 | c.6629T>C (p.Phe2210Ser) c.2557T>C c.*6532T>C (n.*6532T>C) n.3123T>C c.6662T>C (p.Phe2221Ser) c.6674T>C (p.Phe2225Ser) c.6809T>C (p.Phe2270Ser) c.118T>C n.798T>C | |
17 | g.1651152A>T | CA397563726 | PRPF8 | c.6629T>A (p.Phe2210Tyr) c.2557T>A c.*6532T>A (n.*6532T>A) n.3123T>A c.6662T>A (p.Phe2221Tyr) c.6674T>A (p.Phe2225Tyr) c.6809T>A (p.Phe2270Tyr) c.118T>A n.798T>A | |
17 | g.1651153A>C | CA397563728 | PRPF8 | c.6628T>G (p.Phe2210Val) c.2556T>G c.*6531T>G (n.*6531T>G) n.3122T>G c.6661T>G (p.Phe2221Val) c.6673T>G (p.Phe2225Val) c.6808T>G (p.Phe2270Val) c.117T>G n.797T>G | |
17 | g.1651153A>G | CA397563729 | PRPF8 | c.6628T>C (p.Phe2210Leu) c.2556T>C c.*6531T>C (n.*6531T>C) n.3122T>C c.6661T>C (p.Phe2221Leu) c.6673T>C (p.Phe2225Leu) c.6808T>C (p.Phe2270Leu) c.117T>C n.797T>C | |
17 | g.1651153A>T | CA397563730 | PRPF8 | c.6628T>A (p.Phe2210Ile) c.2556T>A c.*6531T>A (n.*6531T>A) n.3122T>A c.6661T>A (p.Phe2221Ile) c.6673T>A (p.Phe2225Ile) c.6808T>A (p.Phe2270Ile) c.117T>A n.797T>A | |
17 | g.1651154G>A | CA497388873 | PRPF8 | c.6627C>T (p.Gly2209=) c.2555C>T c.*6530C>T (n.*6530C>T) n.3121C>T c.6660C>T (p.Gly2220=) c.6672C>T (p.Gly2224=) c.6807C>T (p.Gly2269=) c.116C>T n.796C>T | |
17 | g.1651154G>C | CA497388874 | PRPF8 | c.6627C>G (p.Gly2209=) c.2555C>G c.*6530C>G (n.*6530C>G) n.3121C>G c.6660C>G (p.Gly2220=) c.6672C>G (p.Gly2224=) c.6807C>G (p.Gly2269=) c.116C>G n.796C>G | |
17 | g.1651154G>T | CA497388875 | PRPF8 | c.6627C>A (p.Gly2209=) c.2555C>A c.*6530C>A (n.*6530C>A) n.3121C>A c.6660C>A (p.Gly2220=) c.6672C>A (p.Gly2224=) c.6807C>A (p.Gly2269=) c.116C>A n.796C>A | |
17 | g.1651155C>A | CA397563732 | PRPF8 | c.6626G>T (p.Gly2209Val) c.2554G>T c.*6529G>T (n.*6529G>T) n.3120G>T c.6659G>T (p.Gly2220Val) c.6671G>T (p.Gly2224Val) c.6806G>T (p.Gly2269Val) c.115G>T n.795G>T | |
17 | g.1651155C>G | CA397563734 | PRPF8 | c.6626G>C (p.Gly2209Ala) c.2554G>C c.*6529G>C (n.*6529G>C) n.3120G>C c.6659G>C (p.Gly2220Ala) c.6671G>C (p.Gly2224Ala) c.6806G>C (p.Gly2269Ala) c.115G>C n.795G>C | |
17 | g.1651155C>T | CA397563735 | PRPF8 | c.6626G>A (p.Gly2209Asp) c.2554G>A c.*6529G>A (n.*6529G>A) n.3120G>A c.6659G>A (p.Gly2220Asp) c.6671G>A (p.Gly2224Asp) c.6806G>A (p.Gly2269Asp) c.115G>A n.795G>A | |
17 | g.1651156C>A | CA397563739 | PRPF8 | c.6625G>T (p.Gly2209Cys) c.2553G>T c.*6528G>T (n.*6528G>T) n.3119G>T c.6658G>T (p.Gly2220Cys) c.6670G>T (p.Gly2224Cys) c.6805G>T (p.Gly2269Cys) c.114G>T n.794G>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.1651156C= | CA2242977691 | PRPF8 | c.6625G= (p.Gly2209=) c.2553G= c.*6528G= (n.*6528G=) n.3119G= c.6658G= (p.Gly2220=) c.6670G= (p.Gly2224=) c.6805G= (p.Gly2269=) c.114G= n.794G= | |
17 | g.1651156C>G | CA397563738 | PRPF8 | c.6625G>C (p.Gly2209Arg) c.2553G>C c.*6528G>C (n.*6528G>C) n.3119G>C c.6658G>C (p.Gly2220Arg) c.6670G>C (p.Gly2224Arg) c.6805G>C (p.Gly2269Arg) c.114G>C n.794G>C | |
17 | g.1651156C>T | CA397563737 | PRPF8 | c.6625G>A (p.Gly2209Ser) c.2553G>A c.*6528G>A (n.*6528G>A) n.3119G>A c.6658G>A (p.Gly2220Ser) c.6670G>A (p.Gly2224Ser) c.6805G>A (p.Gly2269Ser) c.114G>A n.794G>A | |
17 | g.1651157A>C | CA497388876 | PRPF8 | c.6624T>G (p.Leu2208=) c.2552T>G c.*6527T>G (n.*6527T>G) n.3118T>G c.6657T>G (p.Leu2219=) c.6669T>G (p.Leu2223=) c.6804T>G (p.Leu2268=) c.113T>G n.793T>G | |
17 | g.1651157A>G | CA497388877 | PRPF8 | c.6624T>C (p.Leu2208=) c.2552T>C c.*6527T>C (n.*6527T>C) n.3118T>C c.6657T>C (p.Leu2219=) c.6669T>C (p.Leu2223=) c.6804T>C (p.Leu2268=) c.113T>C n.793T>C | |
17 | g.1651157A>T | CA497388878 | PRPF8 | c.6624T>A (p.Leu2208=) c.2552T>A c.*6527T>A (n.*6527T>A) n.3118T>A c.6657T>A (p.Leu2219=) c.6669T>A (p.Leu2223=) c.6804T>A (p.Leu2268=) c.113T>A n.793T>A | |
17 | g.1651158A>C | CA397563741 | PRPF8 | c.6623T>G (p.Leu2208Arg) c.2551T>G c.*6526T>G (n.*6526T>G) n.3117T>G c.6656T>G (p.Leu2219Arg) c.6668T>G (p.Leu2223Arg) c.6803T>G (p.Leu2268Arg) c.112T>G n.792T>G | |
17 | g.1651158A>G | CA397563743 | PRPF8 | c.6623T>C (p.Leu2208Pro) c.2551T>C c.*6526T>C (n.*6526T>C) n.3117T>C c.6656T>C (p.Leu2219Pro) c.6668T>C (p.Leu2223Pro) c.6803T>C (p.Leu2268Pro) c.112T>C n.792T>C | |
17 | g.1651158A>T | CA397563745 | PRPF8 | c.6623T>A (p.Leu2208His) c.2551T>A c.*6526T>A (n.*6526T>A) n.3117T>A c.6656T>A (p.Leu2219His) c.6668T>A (p.Leu2223His) c.6803T>A (p.Leu2268His) c.112T>A n.792T>A | |
17 | g.1651159G>A | CA397563746 | PRPF8 | c.6622C>T (p.Leu2208Phe) c.2550C>T c.*6525C>T (n.*6525C>T) n.3116C>T c.6655C>T (p.Leu2219Phe) c.6667C>T (p.Leu2223Phe) c.6802C>T (p.Leu2268Phe) c.111C>T n.791C>T | gnomAD v4 |
17 | g.1651159G>C | CA397563747 | PRPF8 | c.6622C>G (p.Leu2208Val) c.2550C>G c.*6525C>G (n.*6525C>G) n.3116C>G c.6655C>G (p.Leu2219Val) c.6667C>G (p.Leu2223Val) c.6802C>G (p.Leu2268Val) c.111C>G n.791C>G | |
17 | g.1651159G>T | CA397563749 | PRPF8 | c.6622C>A (p.Leu2208Ile) c.2550C>A c.*6525C>A (n.*6525C>A) n.3116C>A c.6655C>A (p.Leu2219Ile) c.6667C>A (p.Leu2223Ile) c.6802C>A (p.Leu2268Ile) c.111C>A n.791C>A | |
17 | g.1651160G>A | CA8271093 | PRPF8 | c.6621C>T (p.Phe2207=) c.2549C>T c.*6524C>T (n.*6524C>T) n.3115C>T c.6654C>T (p.Phe2218=) c.6666C>T (p.Phe2222=) c.6801C>T (p.Phe2267=) c.110C>T n.790C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1651160G>C | CA397563751 | PRPF8 | c.6621C>G (p.Phe2207Leu) c.2549C>G c.*6524C>G (n.*6524C>G) n.3115C>G c.6654C>G (p.Phe2218Leu) c.6666C>G (p.Phe2222Leu) c.6801C>G (p.Phe2267Leu) c.110C>G n.790C>G | gnomAD v4 |
17 | g.1651160G= | CA2242977698 | PRPF8 | c.6621C= (p.Phe2207=) c.2549C= c.*6524C= (n.*6524C=) n.3115C= c.6654C= (p.Phe2218=) c.6666C= (p.Phe2222=) c.6801C= (p.Phe2267=) c.110C= n.790C= | |
17 | g.1651160G>T | CA397563753 | PRPF8 | c.6621C>A (p.Phe2207Leu) c.2549C>A c.*6524C>A (n.*6524C>A) n.3115C>A c.6654C>A (p.Phe2218Leu) c.6666C>A (p.Phe2222Leu) c.6801C>A (p.Phe2267Leu) c.110C>A n.790C>A | |
17 | g.1651161A>C | CA397563754 | PRPF8 | c.6620T>G (p.Phe2207Cys) c.2548T>G c.*6523T>G (n.*6523T>G) n.3114T>G c.6653T>G (p.Phe2218Cys) c.6665T>G (p.Phe2222Cys) c.6800T>G (p.Phe2267Cys) c.109T>G n.789T>G | |
17 | g.1651161A>G | CA397563755 | PRPF8 | c.6620T>C (p.Phe2207Ser) c.2548T>C c.*6523T>C (n.*6523T>C) n.3114T>C c.6653T>C (p.Phe2218Ser) c.6665T>C (p.Phe2222Ser) c.6800T>C (p.Phe2267Ser) c.109T>C n.789T>C | |
17 | g.1651161A>T | CA397563757 | PRPF8 | c.6620T>A (p.Phe2207Tyr) c.2548T>A c.*6523T>A (n.*6523T>A) n.3114T>A c.6653T>A (p.Phe2218Tyr) c.6665T>A (p.Phe2222Tyr) c.6800T>A (p.Phe2267Tyr) c.109T>A n.789T>A | |
17 | g.1651162A>C | CA397563760 | PRPF8 | c.6619T>G (p.Phe2207Val) c.2547T>G c.*6522T>G (n.*6522T>G) n.3113T>G c.6652T>G (p.Phe2218Val) c.6664T>G (p.Phe2222Val) c.6799T>G (p.Phe2267Val) c.108T>G n.788T>G | |
17 | g.1651162A>G | CA397563761 | PRPF8 | c.6619T>C (p.Phe2207Leu) c.2547T>C c.*6522T>C (n.*6522T>C) n.3113T>C c.6652T>C (p.Phe2218Leu) c.6664T>C (p.Phe2222Leu) c.6799T>C (p.Phe2267Leu) c.108T>C n.788T>C | |
17 | g.1651162A>T | CA397563759 | PRPF8 | c.6619T>A (p.Phe2207Ile) c.2547T>A c.*6522T>A (n.*6522T>A) n.3113T>A c.6652T>A (p.Phe2218Ile) c.6664T>A (p.Phe2222Ile) c.6799T>A (p.Phe2267Ile) c.108T>A n.788T>A | |
17 | g.1651163A>C | CA497388879 | PRPF8 | c.6618T>G (p.Arg2206=) c.2546T>G c.*6521T>G (n.*6521T>G) n.3112T>G c.6651T>G (p.Arg2217=) c.6663T>G (p.Arg2221=) c.6798T>G (p.Arg2266=) c.107T>G n.787T>G | |
17 | g.1651163A>G | CA497388880 | PRPF8 | c.6618T>C (p.Arg2206=) c.2546T>C c.*6521T>C (n.*6521T>C) n.3112T>C c.6651T>C (p.Arg2217=) c.6663T>C (p.Arg2221=) c.6798T>C (p.Arg2266=) c.107T>C n.787T>C | |
17 | g.1651163A>T | CA497388881 | PRPF8 | c.6618T>A (p.Arg2206=) c.2546T>A c.*6521T>A (n.*6521T>A) n.3112T>A c.6651T>A (p.Arg2217=) c.6663T>A (p.Arg2221=) c.6798T>A (p.Arg2266=) c.107T>A n.787T>A | |
17 | g.1651164C>A | CA397563765 | PRPF8 | c.6617G>T (p.Arg2206Leu) c.2545G>T c.*6520G>T (n.*6520G>T) n.3111G>T c.6650G>T (p.Arg2217Leu) c.6662G>T (p.Arg2221Leu) c.6797G>T (p.Arg2266Leu) c.106G>T n.786G>T | |
17 | g.1651164C= | CA2242977701 | PRPF8 | c.6617G= (p.Arg2206=) c.2545G= c.*6520G= (n.*6520G=) n.3111G= c.6650G= (p.Arg2217=) c.6662G= (p.Arg2221=) c.6797G= (p.Arg2266=) c.106G= n.786G= | |
17 | g.1651164C>G | CA397563763 | PRPF8 | c.6617G>C (p.Arg2206Pro) c.2545G>C c.*6520G>C (n.*6520G>C) n.3111G>C c.6650G>C (p.Arg2217Pro) c.6662G>C (p.Arg2221Pro) c.6797G>C (p.Arg2266Pro) c.106G>C n.786G>C | |
17 | g.1651164C>T | CA397563766 | PRPF8 | c.6617G>A (p.Arg2206His) c.2545G>A c.*6520G>A (n.*6520G>A) n.3111G>A c.6650G>A (p.Arg2217His) c.6662G>A (p.Arg2221His) c.6797G>A (p.Arg2266His) c.106G>A n.786G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.1651165G>A | CA8271094 | PRPF8 | c.6616C>T (p.Arg2206Cys) c.2544C>T c.*6519C>T (n.*6519C>T) n.3110C>T c.6649C>T (p.Arg2217Cys) c.6661C>T (p.Arg2221Cys) c.6796C>T (p.Arg2266Cys) c.105C>T n.785C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.1651165G>C | CA397563768 | PRPF8 | c.6616C>G (p.Arg2206Gly) c.2544C>G c.*6519C>G (n.*6519C>G) n.3110C>G c.6649C>G (p.Arg2217Gly) c.6661C>G (p.Arg2221Gly) c.6796C>G (p.Arg2266Gly) c.105C>G n.785C>G | |
17 | g.1651165G= | CA2242977705 | PRPF8 | c.6616C= (p.Arg2206=) c.2544C= c.*6519C= (n.*6519C=) n.3110C= c.6649C= (p.Arg2217=) c.6661C= (p.Arg2221=) c.6796C= (p.Arg2266=) c.105C= n.785C= | |
17 | g.1651165G>T | CA397563770 | PRPF8 | c.6616C>A (p.Arg2206Ser) c.2544C>A c.*6519C>A (n.*6519C>A) n.3110C>A c.6649C>A (p.Arg2217Ser) c.6661C>A (p.Arg2221Ser) c.6796C>A (p.Arg2266Ser) c.105C>A n.785C>A | |
17 | g.1651166G>A | CA497388882 | PRPF8 | c.6615C>T (p.Asp2205=) c.2543C>T c.*6518C>T (n.*6518C>T) n.3109C>T c.6648C>T (p.Asp2216=) c.6660C>T (p.Asp2220=) c.6795C>T (p.Asp2265=) c.104C>T n.784C>T | ClinVar dbSNP gnomAD v4 |
17 | g.1651166G>C | CA397563772 | PRPF8 | c.6615C>G (p.Asp2205Glu) c.2543C>G c.*6518C>G (n.*6518C>G) n.3109C>G c.6648C>G (p.Asp2216Glu) c.6660C>G (p.Asp2220Glu) c.6795C>G (p.Asp2265Glu) c.104C>G n.784C>G | |
17 | g.1651166G= | CA2242977708 | PRPF8 | c.6615C= (p.Asp2205=) c.2543C= c.*6518C= (n.*6518C=) n.3109C= c.6648C= (p.Asp2216=) c.6660C= (p.Asp2220=) c.6795C= (p.Asp2265=) c.104C= n.784C= | |
17 | g.1651166G>T | CA397563773 | PRPF8 | c.6615C>A (p.Asp2205Glu) c.2543C>A c.*6518C>A (n.*6518C>A) n.3109C>A c.6648C>A (p.Asp2216Glu) c.6660C>A (p.Asp2220Glu) c.6795C>A (p.Asp2265Glu) c.104C>A n.784C>A | |
17 | g.1651167T>A | CA397563775 | PRPF8 | c.6614A>T (p.Asp2205Val) c.2542A>T c.*6517A>T (n.*6517A>T) n.3108A>T c.6647A>T (p.Asp2216Val) c.6659A>T (p.Asp2220Val) c.6794A>T (p.Asp2265Val) c.103A>T n.783A>T | |
17 | g.1651167T>C | CA397563776 | PRPF8 | c.6614A>G (p.Asp2205Gly) c.2542A>G c.*6517A>G (n.*6517A>G) n.3108A>G c.6647A>G (p.Asp2216Gly) c.6659A>G (p.Asp2220Gly) c.6794A>G (p.Asp2265Gly) c.103A>G n.783A>G | |
17 | g.1651167T>G | CA397563777 | PRPF8 | c.6614A>C (p.Asp2205Ala) c.2542A>C c.*6517A>C (n.*6517A>C) n.3108A>C c.6647A>C (p.Asp2216Ala) c.6659A>C (p.Asp2220Ala) c.6794A>C (p.Asp2265Ala) c.103A>C n.783A>C | |
17 | g.1651168C>A | CA397563779 | PRPF8 | c.6613G>T (p.Asp2205Tyr) c.2541G>T c.*6516G>T (n.*6516G>T) n.3107G>T c.6646G>T (p.Asp2216Tyr) c.6658G>T (p.Asp2220Tyr) c.6793G>T (p.Asp2265Tyr) c.102G>T n.782G>T | |
17 | g.1651168C>G | CA397563780 | PRPF8 | c.6613G>C (p.Asp2205His) c.2541G>C c.*6516G>C (n.*6516G>C) n.3107G>C c.6646G>C (p.Asp2216His) c.6658G>C (p.Asp2220His) c.6793G>C (p.Asp2265His) c.102G>C n.782G>C | ClinVar dbSNP |
17 | g.1651168C>T | CA397563781 | PRPF8 | c.6613G>A (p.Asp2205Asn) c.2541G>A c.*6516G>A (n.*6516G>A) n.3107G>A c.6646G>A (p.Asp2216Asn) c.6658G>A (p.Asp2220Asn) c.6793G>A (p.Asp2265Asn) c.102G>A n.782G>A | |
17 | g.1651169C>A | CA497388883 | PRPF8 | c.6612G>T (p.Ser2204=) c.2540G>T c.*6515G>T (n.*6515G>T) n.3106G>T c.6645G>T (p.Ser2215=) c.6657G>T (p.Ser2219=) c.6792G>T (p.Ser2264=) c.101G>T n.781G>T | |
17 | g.1651169C= | CA2242977711 | PRPF8 | c.6612G= (p.Ser2204=) c.2540G= c.*6515G= (n.*6515G=) n.3106G= c.6645G= (p.Ser2215=) c.6657G= (p.Ser2219=) c.6792G= (p.Ser2264=) c.101G= n.781G= | |
17 | g.1651169C>G | CA497388884 | PRPF8 | c.6612G>C (p.Ser2204=) c.2540G>C c.*6515G>C (n.*6515G>C) n.3106G>C c.6645G>C (p.Ser2215=) c.6657G>C (p.Ser2219=) c.6792G>C (p.Ser2264=) c.101G>C n.781G>C | gnomAD v4 |
17 | g.1651169C>T | CA245637 | PRPF8 | c.6612G>A (p.Ser2204=) c.2540G>A c.*6515G>A (n.*6515G>A) n.3106G>A c.6645G>A (p.Ser2215=) c.6657G>A (p.Ser2219=) c.6792G>A (p.Ser2264=) c.101G>A n.781G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1651170G>A | CA397563787 | PRPF8 | c.6611C>T (p.Ser2204Leu) c.2539C>T c.*6514C>T (n.*6514C>T) n.3105C>T c.6644C>T (p.Ser2215Leu) c.6656C>T (p.Ser2219Leu) c.6791C>T (p.Ser2264Leu) c.100C>T n.780C>T | ClinVar dbSNP |
17 | g.1651170G>C | CA397563785 | PRPF8 | c.6611C>G (p.Ser2204Trp) c.2539C>G c.*6514C>G (n.*6514C>G) n.3105C>G c.6644C>G (p.Ser2215Trp) c.6656C>G (p.Ser2219Trp) c.6791C>G (p.Ser2264Trp) c.100C>G n.780C>G | |
17 | g.1651170G= | CA2242977716 | PRPF8 | c.6611C= (p.Ser2204=) c.2539C= c.*6514C= (n.*6514C=) n.3105C= c.6644C= (p.Ser2215=) c.6656C= (p.Ser2219=) c.6791C= (p.Ser2264=) c.100C= n.780C= | |
17 | g.1651170G>T | CA397563784 | PRPF8 | c.6611C>A (p.Ser2204Ter) c.2539C>A c.*6514C>A (n.*6514C>A) n.3105C>A c.6644C>A (p.Ser2215Ter) c.6656C>A (p.Ser2219Ter) c.6791C>A (p.Ser2264Ter) c.100C>A n.780C>A | |
17 | g.1651171A>C | CA397563789 | PRPF8 | c.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 | |
17 | g.1651171A>G | CA397563790 | PRPF8 | c.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 | |
17 | g.1651171A>T | CA397563792 | PRPF8 | c.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 | |
17 | g.1651172C>A | CA497388885 | PRPF8 | c.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 | |
17 | g.1651172C>G | CA497388886 | PRPF8 | c.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 | |
17 | g.1651172C>T | CA497388887 | PRPF8 | c.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 |
17 | g.1651173A>C | CA397563793 | PRPF8 | c.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 | |
17 | g.1651173A>G | CA397563795 | PRPF8 | c.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 | |
17 | g.1651173A>T | CA397563796 | PRPF8 | c.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 | |
17 | g.1651174G>A | CA8271095 | PRPF8 | c.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 |
17 | g.1651174G>C | CA397563798 | PRPF8 | c.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 |
17 | g.1651174G= | CA2242977718 | PRPF8 | c.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= | |
17 | g.1651174G>T | CA397563800 | PRPF8 | c.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 | |
17 | g.1651175C>A | CA8271096 | PRPF8 | c.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 |
17 | g.1651175C= | CA2242977722 | PRPF8 | c.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= | |
17 | g.1651175C>G | CA497388889 | PRPF8 | c.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 | |
17 | g.1651175C>T | CA497388888 | PRPF8 | c.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 |
17 | g.1651176A>C | CA397563802 | PRPF8 | c.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 | |
17 | g.1651176A>G | CA397563804 | PRPF8 | c.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 | |
17 | g.1651176A>T | CA397563805 | PRPF8 | c.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 | |
17 | g.1651177del | CA2635249022 | PRPF8 | c.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 |
17 | g.1651177G>A | CA497388890 | PRPF8 | c.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 | |
17 | g.1651177G>C | CA397563806 | PRPF8 | c.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 | |
17 | g.1651177G>T | CA397563808 | PRPF8 | c.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 | |
17 | g.1651178C>A | CA397563809 | PRPF8 | c.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 | |
17 | g.1651178C= | CA2242977729 | PRPF8 | c.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= | |
17 | g.1651178C>G | CA397563813 | PRPF8 | c.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 | |
17 | g.1651178C>T | CA10638980 | PRPF8 | c.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 |
17 | g.1651179A>C | CA397563816 | PRPF8 | c.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 | |
17 | g.1651179A>G | CA397563818 | PRPF8 | c.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 | |
17 | g.1651179A>T | CA397563820 | PRPF8 | c.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 | |
17 | g.1651180T>A | CA397563822 | PRPF8 | c.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 |
17 | g.1651180T>C | CA397563823 | PRPF8 | c.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 | |
17 | g.1651180T>G | CA397563824 | PRPF8 | c.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 | |
17 | g.1651180_1651181delinsTC | CA2242977733 | PRPF8 | c.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 | |
17 | g.1651181del | CA8271097 | PRPF8 | c.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 |
17 | g.1651181C>A | CA397563826 | PRPF8 | c.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 | |
17 | g.1651181C>G | CA397563827 | PRPF8 | c.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 | |
17 | g.1651181C>T | CA497388891 | PRPF8 | c.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 | |
17 | g.1651182T>A | CA397563831 | PRPF8 | c.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 | |
17 | g.1651182T>C | CA397563833 | PRPF8 | c.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 | |
17 | g.1651182T>G | CA397563830 | PRPF8 | c.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 | |
17 | g.1651183G>A | CA397563834 | PRPF8 | c.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 |
17 | g.1651183G>C | CA397563836 | PRPF8 | c.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 | |
17 | g.1651183G>T | CA397563837 | PRPF8 | c.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 | |
17 | g.1651184C>A | CA497388892 | PRPF8 | c.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 | |
17 | g.1651184C>G | CA497388893 | PRPF8 | c.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 | |
17 | g.1651184C>T | CA497388894 | PRPF8 | c.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 | |
17 | g.1651185A>C | CA397563839 | PRPF8 | c.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 | |
17 | g.1651185A>G | CA397563840 | PRPF8 | c.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 | |
17 | g.1651185A>T | CA397563842 | PRPF8 | c.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 | |
17 | g.1651186C>A | CA397563843 | PRPF8 | c.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 |
17 | g.1651186C= | CA2242977737 | PRPF8 | c.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= | |
17 | g.1651186C>G | CA397563847 | PRPF8 | c.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 | |
17 | g.1651186C>T | CA397563845 | PRPF8 | c.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 | |
17 | g.1651187C>A | CA397563848 | PRPF8 | c.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 | |
17 | g.1651187C= | CA2242977740 | PRPF8 | c.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= | |
17 | g.1651187C>G | CA397563850 | PRPF8 | c.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 | |
17 | g.1651187C>T | CA497388895 | PRPF8 | c.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 |
17 | g.1651188C>A | CA397563852 | PRPF8 | c.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 | |
17 | g.1651188C>G | CA397563853 | PRPF8 | c.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 | |
17 | g.1651188C>T | CA397563855 | PRPF8 | c.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 | |
17 | g.1651189T>A | CA397563856 | PRPF8 | c.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 | |
17 | g.1651189T>C | CA397563857 | PRPF8 | c.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 | |
17 | g.1651189T>G | CA497388896 | PRPF8 | c.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 | |
17 | g.1651190C>A | CA397563859 | PRPF8 | c.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 | |
17 | g.1651190C>G | CA397563860 | PRPF8 | c.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 |
17 | g.1651190C>T | CA497388897 | PRPF8 | c.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 | |
17 | g.1651191T>A | CA397563862 | PRPF8 | c.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 | |
17 | g.1651191T>C | CA397563864 | PRPF8 | c.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 | |
17 | g.1651191T>G | CA397563865 | PRPF8 | c.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 | |
17 | g.1651192C>A | CA397563870 | PRPF8 | c.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 | |
17 | g.1651192C>G | CA397563868 | PRPF8 | c.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 | |
17 | g.1651192C>T | CA397563866 | PRPF8 | c.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 | |
17 | g.1651193A= | CA2242977744 | PRPF8 | c.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= | |
17 | g.1651193A>C | CA397563871 | PRPF8 | c.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 |
17 | g.1651193A>G | CA8271098 | PRPF8 | c.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 |
17 | g.1651193A>T | CA397563873 | PRPF8 | c.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 | |
17 | g.1651194T>A | CA8271099 | PRPF8 | c.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 |
17 | g.1651194T>C | CA397563876 | PRPF8 | c.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 |
17 | g.1651194T>G | CA397563877 | PRPF8 | c.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 | |
17 | g.1651194T= | CA2242977749 | PRPF8 | c.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= | |
17 | g.1651195A= | CA2242977751 | PRPF8 | c.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= | |
17 | g.1651195A>C | CA397563882 | PRPF8 | c.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 | |
17 | g.1651195A>G | CA397563879 | PRPF8 | c.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 |
17 | g.1651195A>T | CA397563880 | PRPF8 | c.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 | |
17 | g.1651196G>A | CA497388898 | PRPF8 | c.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 |
17 | g.1651196G>C | CA397563883 | PRPF8 | c.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 | |
17 | g.1651196G= | CA2242977754 | PRPF8 | c.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= | |
17 | g.1651196G>T | CA397563885 | PRPF8 | c.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 | |
17 | g.1651197T>A | CA397563886 | PRPF8 | c.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 | |
17 | g.1651197T>C | CA397563887 | PRPF8 | c.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 | |
17 | g.1651197T>G | CA397563889 | PRPF8 | c.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 | |
17 | g.1651198G>A | CA397563891 | PRPF8 | c.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 | |
17 | g.1651198G>C | CA397563893 | PRPF8 | c.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 | |
17 | g.1651198G>T | CA397563894 | PRPF8 | c.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 | |
17 | g.1651199T>A | CA8271101 | PRPF8 | c.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 |
17 | g.1651199T>C | CA497388899 | PRPF8 | c.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 | |
17 | g.1651199T>G | CA8271100 | PRPF8 | c.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 |
17 | g.1651199T= | CA2242977760 | PRPF8 | c.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= | |
17 | g.1651200G>A | CA397563897 | PRPF8 | c.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 | |
17 | g.1651200G>C | CA397563899 | PRPF8 | c.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 | |
17 | g.1651200G>T | CA397563900 | PRPF8 | c.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 | |
17 | g.1651201A>C | CA397563901 | PRPF8 | c.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 | |
17 | g.1651201A>G | CA397563905 | PRPF8 | c.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 | |
17 | g.1651201A>T | CA397563903 | PRPF8 | c.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 | |
17 | g.1651202A= | CA2242977765 | PRPF8 | c.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= | |
17 | g.1651202A>C | CA497388900 | PRPF8 | c.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 | |
17 | g.1651202A>G | CA286849958 | PRPF8 | c.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 |
17 | g.1651202A>T | CA497388901 | PRPF8 | c.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 | |
17 | g.1651203G>A | CA397563907 | PRPF8 | c.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 | |
17 | g.1651203G>C | CA397563909 | PRPF8 | c.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 | |
17 | g.1651203G>T | CA397563910 | PRPF8 | c.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 | |
17 | g.1651204G>A | CA397563912 | PRPF8 | c.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 | |
17 | g.1651204G>C | CA397563913 | PRPF8 | c.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 | |
17 | g.1651204G>T | CA397563914 | PRPF8 | c.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 | |
17 | g.1651205C>A | CA497388902 | PRPF8 | c.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 | |
17 | g.1651205C>G | CA497388903 | PRPF8 | c.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 | |
17 | g.1651205C>T | CA497388904 | PRPF8 | c.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 | |
17 | g.1651206A>C | CA397563916 | PRPF8 | c.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 | |
17 | g.1651206A>G | CA397563919 | PRPF8 | c.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 | |
17 | g.1651206A>T | CA397563918 | PRPF8 | c.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 | |
17 | g.1651207G>A | CA497388905 | PRPF8 | c.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 | |
17 | g.1651207G>C | CA397563921 | PRPF8 | c.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 | |
17 | g.1651207G>T | CA397563922 | PRPF8 | c.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 | |
17 | g.1651208G>A | CA497388906 | PRPF8 | c.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 |
17 | g.1651208G>C | CA397563923 | PRPF8 | c.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 | |
17 | g.1651208G>T | CA397563924 | PRPF8 | c.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 | |
17 | g.1651209T>A | CA397563926 | PRPF8 | c.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 | |
17 | g.1651209T>C | CA397563929 | PRPF8 | c.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 | |
17 | g.1651209T>G | CA397563928 | PRPF8 | c.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 | |
17 | g.1651210A>C | CA397563931 | PRPF8 | c.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 | |
17 | g.1651210A>G | CA397563932 | PRPF8 | c.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 | |
17 | g.1651210A>T | CA397563934 | PRPF8 | c.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 | |
17 | g.1651211G>A | CA8271103 | PRPF8 | c.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 |
17 | g.1651211G>C | CA497388907 | PRPF8 | c.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 |
17 | g.1651211G= | CA2242977770 | PRPF8 | c.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= | |
17 | g.1651211G>T | CA8271102 | PRPF8 | c.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 |
17 | g.1651212C>A | CA397563937 | PRPF8 | c.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 | |
17 | g.1651212C>G | CA397563938 | PRPF8 | c.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 | |
17 | g.1651212C>T | CA397563940 | PRPF8 | c.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 | |
17 | g.1651213C>A | CA397563941 | PRPF8 | c.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 | |
17 | g.1651213C>G | CA397563943 | PRPF8 | c.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 | |
17 | g.1651213C>T | CA397563944 | PRPF8 | c.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 | |
17 | g.1651214C>A | CA397563945 | PRPF8 | c.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 | |
17 | g.1651214C>G | CA397563947 | PRPF8 | c.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 | |
17 | g.1651214C>T | CA497388908 | PRPF8 | c.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 | |
17 | g.1651215T>A | CA397563948 | PRPF8 | c.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 | |
17 | g.1651215T>C | CA397563952 | PRPF8 | c.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 | |
17 | g.1651215T>G | CA397563950 | PRPF8 | c.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 | |
17 | g.1651216T>A | CA397563953 | PRPF8 | c.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 | |
17 | g.1651216T>C | CA397563956 | PRPF8 | c.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 |
17 | g.1651216T>G | CA397563954 | PRPF8 | c.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 | |
17 | g.1651216T= | CA2242977776 | PRPF8 | c.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= | |
17 | g.1651217G>A | CA497388909 | PRPF8 | c.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 | |
17 | g.1651217G>C | CA497388910 | PRPF8 | c.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 |
17 | g.1651217G>T | CA497388911 | PRPF8 | c.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 | |
17 | g.1651218G>A | CA397563957 | PRPF8 | c.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 | |
17 | g.1651218G>C | CA397563959 | PRPF8 | c.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 | |
17 | g.1651218G>T | CA397563961 | PRPF8 | c.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 | |
17 | g.1651219G>A | CA397563962 | PRPF8 | c.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 | |
17 | g.1651219G>C | CA397563964 | PRPF8 | c.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 | |
17 | g.1651219G>T | CA397563965 | PRPF8 | c.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 | |
17 | g.1651220G>A | CA8271104 | PRPF8 | c.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 |
17 | g.1651220G>C | CA397563966 | PRPF8 | c.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 | |
17 | g.1651220G= | CA2242977781 | PRPF8 | c.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= | |
17 | g.1651220G>T | CA397563967 | PRPF8 | c.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 | |
17 | g.1651221T>A | CA397563968 | PRPF8 | c.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 | |
17 | g.1651221T>C | CA8271105 | PRPF8 | c.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 |
17 | g.1651221T>G | CA397563969 | PRPF8 | c.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 | |
17 | g.1651221T= | CA2242977784 | PRPF8 | c.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= | |
17 | g.1651222T>A | CA397563973 | PRPF8 | c.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 | |
17 | g.1651222T>C | CA397563971 | PRPF8 | c.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 | |
17 | g.1651222T>G | CA397563970 | PRPF8 | c.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 | |
17 | g.1651223G>A | CA286850015 | PRPF8 | c.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 |
17 | g.1651223G>C | CA397563975 | PRPF8 | c.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 | |
17 | g.1651223G= | CA2242977788 | PRPF8 | c.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= | |
17 | g.1651223G>T | CA397563977 | PRPF8 | c.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 | |
17 | g.1651224T>A | CA397563978 | PRPF8 | c.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 | |
17 | g.1651224T>C | CA397563980 | PRPF8 | c.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 | |
17 | g.1651224T>G | CA397563981 | PRPF8 | c.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 | |
17 | g.1651225T>A | CA397563982 | PRPF8 | c.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 | |
17 | g.1651225T>C | CA397563983 | PRPF8 | c.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 | |
17 | g.1651225T>G | CA397563984 | PRPF8 | c.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 | |
17 | g.1651226G>A | CA8271106 | PRPF8 | c.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 |
17 | g.1651226G>C | CA497388913 | PRPF8 | c.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 | |
17 | g.1651226G= | CA2242977791 | PRPF8 | c.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= | |
17 | g.1651226G>T | CA497388912 | PRPF8 | c.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 | |
17 | g.1651227C>A | CA397563986 | PRPF8 | c.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 | |
17 | g.1651227C>G | CA397563987 | PRPF8 | c.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 | |
17 | g.1651227C>T | CA397563989 | PRPF8 | c.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 | |
17 | g.1651228C>A | CA397563992 | PRPF8 | c.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 | |
17 | g.1651228C>G | CA397563993 | PRPF8 | c.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 | |
17 | g.1651228C>T | CA397563990 | PRPF8 | c.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 | |
17 | g.1651229C>A | CA397563995 | PRPF8 | c.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 | |
17 | g.1651229C= | CA2242977795 | PRPF8 | c.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= | |
17 | g.1651229C>G | CA397563996 | PRPF8 | c.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 | |
17 | g.1651229C>T | CA8271107 | PRPF8 | c.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 |
17 | g.1651230T>A | CA397563999 | PRPF8 | c.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 | |
17 | g.1651230T>C | CA397564000 | PRPF8 | c.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 | |
17 | g.1651230T>G | CA397564002 | PRPF8 | c.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 | |
17 | g.1651231T>A | CA397564003 | PRPF8 | c.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 | |
17 | g.1651231T>C | CA397564004 | PRPF8 | c.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 | |
17 | g.1651231T>G | CA397564006 | PRPF8 | c.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 | |
17 | g.1651232G>A | CA497388914 | PRPF8 | c.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 | |
17 | g.1651232G>C | CA397564007 | PRPF8 | c.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 | |
17 | g.1651232G>T | CA397564009 | PRPF8 | c.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 |