| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 17 | g.1651233T>A | CA397564013 | PRPF8 | c.6548A>T (p.Asp2183Val) c.2476A>T c.*6451A>T (n.*6451A>T) n.3042A>T c.6581A>T (p.Asp2194Val) c.6593A>T (p.Asp2198Val) c.6728A>T (p.Asp2243Val) c.37A>T n.717A>T | |
| 17 | g.1651233T>C | CA397564012 | PRPF8 | c.6548A>G (p.Asp2183Gly) c.2476A>G c.*6451A>G (n.*6451A>G) n.3042A>G c.6581A>G (p.Asp2194Gly) c.6593A>G (p.Asp2198Gly) c.6728A>G (p.Asp2243Gly) c.37A>G n.717A>G | |
| 17 | g.1651233T>G | CA397564010 | PRPF8 | c.6548A>C (p.Asp2183Ala) c.2476A>C c.*6451A>C (n.*6451A>C) n.3042A>C c.6581A>C (p.Asp2194Ala) c.6593A>C (p.Asp2198Ala) c.6728A>C (p.Asp2243Ala) c.37A>C n.717A>C | |
| 17 | g.1651234C>A | CA397564015 | PRPF8 | c.6547G>T (p.Asp2183Tyr) c.2475G>T c.*6450G>T (n.*6450G>T) n.3041G>T c.6580G>T (p.Asp2194Tyr) c.6592G>T (p.Asp2198Tyr) c.6727G>T (p.Asp2243Tyr) c.36G>T n.716G>T | |
| 17 | g.1651234C>G | CA397564016 | PRPF8 | c.6547G>C (p.Asp2183His) c.2475G>C c.*6450G>C (n.*6450G>C) n.3041G>C c.6580G>C (p.Asp2194His) c.6592G>C (p.Asp2198His) c.6727G>C (p.Asp2243His) c.36G>C n.716G>C | |
| 17 | g.1651234C>T | CA397564018 | PRPF8 | c.6547G>A (p.Asp2183Asn) c.2475G>A c.*6450G>A (n.*6450G>A) n.3041G>A c.6580G>A (p.Asp2194Asn) c.6592G>A (p.Asp2198Asn) c.6727G>A (p.Asp2243Asn) c.36G>A n.716G>A | |
| 17 | g.1651235T>A | CA497388915 | PRPF8 | c.6546A>T (p.Thr2182=) c.2474A>T c.*6449A>T (n.*6449A>T) n.3040A>T c.6579A>T (p.Thr2193=) c.6591A>T (p.Thr2197=) c.6726A>T (p.Thr2242=) c.35A>T n.715A>T | |
| 17 | g.1651235T>C | CA497388916 | PRPF8 | c.6546A>G (p.Thr2182=) c.2474A>G c.*6449A>G (n.*6449A>G) n.3040A>G c.6579A>G (p.Thr2193=) c.6591A>G (p.Thr2197=) c.6726A>G (p.Thr2242=) c.35A>G n.715A>G | |
| 17 | g.1651235T>G | CA497388917 | PRPF8 | c.6546A>C (p.Thr2182=) c.2474A>C c.*6449A>C (n.*6449A>C) n.3040A>C c.6579A>C (p.Thr2193=) c.6591A>C (p.Thr2197=) c.6726A>C (p.Thr2242=) c.35A>C n.715A>C | |
| 17 | g.1651236G>A | CA397564020 | PRPF8 | c.6545C>T (p.Thr2182Ile) c.2473C>T c.*6448C>T (n.*6448C>T) n.3039C>T c.6578C>T (p.Thr2193Ile) c.6590C>T (p.Thr2197Ile) c.6725C>T (p.Thr2242Ile) c.34C>T n.714C>T | |
| 17 | g.1651236G>C | CA397564021 | PRPF8 | c.6545C>G (p.Thr2182Arg) c.2473C>G c.*6448C>G (n.*6448C>G) n.3039C>G c.6578C>G (p.Thr2193Arg) c.6590C>G (p.Thr2197Arg) c.6725C>G (p.Thr2242Arg) c.34C>G n.714C>G | |
| 17 | g.1651236G>T | CA397564022 | PRPF8 | c.6545C>A (p.Thr2182Lys) c.2473C>A c.*6448C>A (n.*6448C>A) n.3039C>A c.6578C>A (p.Thr2193Lys) c.6590C>A (p.Thr2197Lys) c.6725C>A (p.Thr2242Lys) c.34C>A n.714C>A | |
| 17 | g.1651237T>A | CA397564023 | PRPF8 | c.6544A>T (p.Thr2182Ser) c.2472A>T c.*6447A>T (n.*6447A>T) n.3038A>T c.6577A>T (p.Thr2193Ser) c.6589A>T (p.Thr2197Ser) c.6724A>T (p.Thr2242Ser) c.33A>T n.713A>T | |
| 17 | g.1651237T>C | CA397564025 | PRPF8 | c.6544A>G (p.Thr2182Ala) c.2472A>G c.*6447A>G (n.*6447A>G) n.3038A>G c.6577A>G (p.Thr2193Ala) c.6589A>G (p.Thr2197Ala) c.6724A>G (p.Thr2242Ala) c.33A>G n.713A>G | |
| 17 | g.1651237T>G | CA397564026 | PRPF8 | c.6544A>C (p.Thr2182Pro) c.2472A>C c.*6447A>C (n.*6447A>C) n.3038A>C c.6577A>C (p.Thr2193Pro) c.6589A>C (p.Thr2197Pro) c.6724A>C (p.Thr2242Pro) c.33A>C n.713A>C | gnomAD v4 |
| 17 | g.1651238G>A | CA497388918 | PRPF8 | c.6543C>T (p.Asn2181=) c.2471C>T c.*6446C>T (n.*6446C>T) n.3037C>T c.6576C>T (p.Asn2192=) c.6588C>T (p.Asn2196=) c.6723C>T (p.Asn2241=) c.32C>T n.712C>T | |
| 17 | g.1651238G>C | CA397564028 | PRPF8 | c.6543C>G (p.Asn2181Lys) c.2471C>G c.*6446C>G (n.*6446C>G) n.3037C>G c.6576C>G (p.Asn2192Lys) c.6588C>G (p.Asn2196Lys) c.6723C>G (p.Asn2241Lys) c.32C>G n.712C>G | |
| 17 | g.1651238G>T | CA397564029 | PRPF8 | c.6543C>A (p.Asn2181Lys) c.2471C>A c.*6446C>A (n.*6446C>A) n.3037C>A c.6576C>A (p.Asn2192Lys) c.6588C>A (p.Asn2196Lys) c.6723C>A (p.Asn2241Lys) c.32C>A n.712C>A | |
| 17 | g.1651239T>A | CA397564033 | PRPF8 | c.6542A>T (p.Asn2181Ile) c.2470A>T c.*6445A>T (n.*6445A>T) n.3036A>T c.6575A>T (p.Asn2192Ile) c.6587A>T (p.Asn2196Ile) c.6722A>T (p.Asn2241Ile) c.31A>T n.711A>T | |
| 17 | g.1651239T>C | CA397564031 | PRPF8 | c.6542A>G (p.Asn2181Ser) c.2470A>G c.*6445A>G (n.*6445A>G) n.3036A>G c.6575A>G (p.Asn2192Ser) c.6587A>G (p.Asn2196Ser) c.6722A>G (p.Asn2241Ser) c.31A>G n.711A>G | |
| 17 | g.1651239T>G | CA397564030 | PRPF8 | c.6542A>C (p.Asn2181Thr) c.2470A>C c.*6445A>C (n.*6445A>C) n.3036A>C c.6575A>C (p.Asn2192Thr) c.6587A>C (p.Asn2196Thr) c.6722A>C (p.Asn2241Thr) c.31A>C n.711A>C | |
| 17 | g.1651240T>A | CA397564034 | PRPF8 | c.6541A>T (p.Asn2181Tyr) c.2469A>T c.*6444A>T (n.*6444A>T) n.3035A>T c.6574A>T (p.Asn2192Tyr) c.6586A>T (p.Asn2196Tyr) c.6721A>T (p.Asn2241Tyr) c.30A>T n.710A>T | |
| 17 | g.1651240T>C | CA397564037 | PRPF8 | c.6541A>G (p.Asn2181Asp) c.2469A>G c.*6444A>G (n.*6444A>G) n.3035A>G c.6574A>G (p.Asn2192Asp) c.6586A>G (p.Asn2196Asp) c.6721A>G (p.Asn2241Asp) c.30A>G n.710A>G | |
| 17 | g.1651240T>G | CA397564036 | PRPF8 | c.6541A>C (p.Asn2181His) c.2469A>C c.*6444A>C (n.*6444A>C) n.3035A>C c.6574A>C (p.Asn2192His) c.6586A>C (p.Asn2196His) c.6721A>C (p.Asn2241His) c.30A>C n.710A>C | |
| 17 | g.1651241C>A | CA397564038 | PRPF8 | c.6540G>T (p.Gln2180His) c.2468G>T c.*6443G>T (n.*6443G>T) n.3034G>T c.6573G>T (p.Gln2191His) c.6585G>T (p.Gln2195His) c.6720G>T (p.Gln2240His) c.29G>T n.709G>T | |
| 17 | g.1651241C>G | CA397564039 | PRPF8 | c.6540G>C (p.Gln2180His) c.2468G>C c.*6443G>C (n.*6443G>C) n.3034G>C c.6573G>C (p.Gln2191His) c.6585G>C (p.Gln2195His) c.6720G>C (p.Gln2240His) c.29G>C n.709G>C | |
| 17 | g.1651241C>T | CA497388919 | PRPF8 | c.6540G>A (p.Gln2180=) c.2468G>A c.*6443G>A (n.*6443G>A) n.3034G>A c.6573G>A (p.Gln2191=) c.6585G>A (p.Gln2195=) c.6720G>A (p.Gln2240=) c.29G>A n.709G>A | gnomAD v4 |
| 17 | g.1651242T>A | CA397564040 | PRPF8 | c.6539A>T (p.Gln2180Leu) c.2467A>T c.*6442A>T (n.*6442A>T) n.3033A>T c.6572A>T (p.Gln2191Leu) c.6584A>T (p.Gln2195Leu) c.6719A>T (p.Gln2240Leu) c.28A>T n.708A>T | |
| 17 | g.1651242T>C | CA397564042 | PRPF8 | c.6539A>G (p.Gln2180Arg) c.2467A>G c.*6442A>G (n.*6442A>G) n.3033A>G c.6572A>G (p.Gln2191Arg) c.6584A>G (p.Gln2195Arg) c.6719A>G (p.Gln2240Arg) c.28A>G n.708A>G | |
| 17 | g.1651242T>G | CA397564043 | PRPF8 | c.6539A>C (p.Gln2180Pro) c.2467A>C c.*6442A>C (n.*6442A>C) n.3033A>C c.6572A>C (p.Gln2191Pro) c.6584A>C (p.Gln2195Pro) c.6719A>C (p.Gln2240Pro) c.28A>C n.708A>C | |
| 17 | g.1651243G>A | CA397564045 | PRPF8 | c.6538C>T (p.Gln2180Ter) c.2466C>T c.*6441C>T (n.*6441C>T) n.3032C>T c.6571C>T (p.Gln2191Ter) c.6583C>T (p.Gln2195Ter) c.6718C>T (p.Gln2240Ter) c.27C>T n.707C>T | |
| 17 | g.1651243G>C | CA397564046 | PRPF8 | c.6538C>G (p.Gln2180Glu) c.2466C>G c.*6441C>G (n.*6441C>G) n.3032C>G c.6571C>G (p.Gln2191Glu) c.6583C>G (p.Gln2195Glu) c.6718C>G (p.Gln2240Glu) c.27C>G n.707C>G | |
| 17 | g.1651243G>T | CA397564047 | PRPF8 | c.6538C>A (p.Gln2180Lys) c.2466C>A c.*6441C>A (n.*6441C>A) n.3032C>A c.6571C>A (p.Gln2191Lys) c.6583C>A (p.Gln2195Lys) c.6718C>A (p.Gln2240Lys) c.27C>A n.707C>A | |
| 17 | g.1651244G>A | CA8271108 | PRPF8 | c.6537C>T (p.Arg2179=) c.2465C>T c.*6440C>T (n.*6440C>T) n.3031C>T c.6570C>T (p.Arg2190=) c.6582C>T (p.Arg2194=) c.6717C>T (p.Arg2239=) c.26C>T n.706C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1651244G>C | CA497388921 | PRPF8 | c.6537C>G (p.Arg2179=) c.2465C>G c.*6440C>G (n.*6440C>G) n.3031C>G c.6570C>G (p.Arg2190=) c.6582C>G (p.Arg2194=) c.6717C>G (p.Arg2239=) c.26C>G n.706C>G | |
| 17 | g.1651244G= | CA2242977800 | PRPF8 | c.6537C= (p.Arg2179=) c.2465C= c.*6440C= (n.*6440C=) n.3031C= c.6570C= (p.Arg2190=) c.6582C= (p.Arg2194=) c.6717C= (p.Arg2239=) c.26C= n.706C= | |
| 17 | g.1651244G>T | CA497388920 | PRPF8 | c.6537C>A (p.Arg2179=) c.2465C>A c.*6440C>A (n.*6440C>A) n.3031C>A c.6570C>A (p.Arg2190=) c.6582C>A (p.Arg2194=) c.6717C>A (p.Arg2239=) c.26C>A n.706C>A | |
| 17 | g.1651245C>A | CA397564049 | PRPF8 | c.6536G>T (p.Arg2179Leu) c.2464G>T c.*6439G>T (n.*6439G>T) n.3030G>T c.6569G>T (p.Arg2190Leu) c.6581G>T (p.Arg2194Leu) c.6716G>T (p.Arg2239Leu) c.25G>T n.705G>T | |
| 17 | g.1651245C>G | CA397564051 | PRPF8 | c.6536G>C (p.Arg2179Pro) c.2464G>C c.*6439G>C (n.*6439G>C) n.3030G>C c.6569G>C (p.Arg2190Pro) c.6581G>C (p.Arg2194Pro) c.6716G>C (p.Arg2239Pro) c.25G>C n.705G>C | |
| 17 | g.1651245C>T | CA397564052 | PRPF8 | c.6536G>A (p.Arg2179His) c.2464G>A c.*6439G>A (n.*6439G>A) n.3030G>A c.6569G>A (p.Arg2190His) c.6581G>A (p.Arg2194His) c.6716G>A (p.Arg2239His) c.25G>A n.705G>A | gnomAD v4 |
| 17 | g.1651246G>A | CA397564053 | PRPF8 | c.6535C>T (p.Arg2179Cys) c.2463C>T c.*6438C>T (n.*6438C>T) n.3029C>T c.6568C>T (p.Arg2190Cys) c.6580C>T (p.Arg2194Cys) c.6715C>T (p.Arg2239Cys) c.24C>T n.704C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.1651246G>C | CA397564056 | PRPF8 | c.6535C>G (p.Arg2179Gly) c.2463C>G c.*6438C>G (n.*6438C>G) n.3029C>G c.6568C>G (p.Arg2190Gly) c.6580C>G (p.Arg2194Gly) c.6715C>G (p.Arg2239Gly) c.24C>G n.704C>G | |
| 17 | g.1651246G= | CA2242977802 | PRPF8 | c.6535C= (p.Arg2179=) c.2463C= c.*6438C= (n.*6438C=) n.3029C= c.6568C= (p.Arg2190=) c.6580C= (p.Arg2194=) c.6715C= (p.Arg2239=) c.24C= n.704C= | |
| 17 | g.1651246G>T | CA397564054 | PRPF8 | c.6535C>A (p.Arg2179Ser) c.2463C>A c.*6438C>A (n.*6438C>A) n.3029C>A c.6568C>A (p.Arg2190Ser) c.6580C>A (p.Arg2194Ser) c.6715C>A (p.Arg2239Ser) c.24C>A n.704C>A | |
| 17 | g.1651247G>A | CA497388922 | PRPF8 | c.6534C>T (p.Gly2178=) c.2462C>T c.*6437C>T (n.*6437C>T) n.3028C>T c.6567C>T (p.Gly2189=) c.6579C>T (p.Gly2193=) c.6714C>T (p.Gly2238=) c.23C>T n.703C>T | dbSNP |
| 17 | g.1651247G>C | CA497388923 | PRPF8 | c.6534C>G (p.Gly2178=) c.2462C>G c.*6437C>G (n.*6437C>G) n.3028C>G c.6567C>G (p.Gly2189=) c.6579C>G (p.Gly2193=) c.6714C>G (p.Gly2238=) c.23C>G n.703C>G | |
| 17 | g.1651247G= | CA2242977804 | PRPF8 | c.6534C= (p.Gly2178=) c.2462C= c.*6437C= (n.*6437C=) n.3028C= c.6567C= (p.Gly2189=) c.6579C= (p.Gly2193=) c.6714C= (p.Gly2238=) c.23C= n.703C= | |
| 17 | g.1651247G>T | CA497388924 | PRPF8 | c.6534C>A (p.Gly2178=) c.2462C>A c.*6437C>A (n.*6437C>A) n.3028C>A c.6567C>A (p.Gly2189=) c.6579C>A (p.Gly2193=) c.6714C>A (p.Gly2238=) c.23C>A n.703C>A | |
| 17 | g.1651248C>A | CA397564057 | PRPF8 | c.6533G>T (p.Gly2178Val) c.2461G>T c.*6436G>T (n.*6436G>T) n.3027G>T c.6566G>T (p.Gly2189Val) c.6578G>T (p.Gly2193Val) c.6713G>T (p.Gly2238Val) c.22G>T n.702G>T | |
| 17 | g.1651248C>G | CA397564058 | PRPF8 | c.6533G>C (p.Gly2178Ala) c.2461G>C c.*6436G>C (n.*6436G>C) n.3027G>C c.6566G>C (p.Gly2189Ala) c.6578G>C (p.Gly2193Ala) c.6713G>C (p.Gly2238Ala) c.22G>C n.702G>C | |
| 17 | g.1651248C>T | CA397564060 | PRPF8 | c.6533G>A (p.Gly2178Asp) c.2461G>A c.*6436G>A (n.*6436G>A) n.3027G>A c.6566G>A (p.Gly2189Asp) c.6578G>A (p.Gly2193Asp) c.6713G>A (p.Gly2238Asp) c.22G>A n.702G>A | |
| 17 | g.1651249C>A | CA397564062 | PRPF8 | c.6532G>T (p.Gly2178Cys) c.2460G>T c.*6435G>T (n.*6435G>T) n.3026G>T c.6565G>T (p.Gly2189Cys) c.6577G>T (p.Gly2193Cys) c.6712G>T (p.Gly2238Cys) c.21G>T n.701G>T | |
| 17 | g.1651249C>G | CA397564063 | PRPF8 | c.6532G>C (p.Gly2178Arg) c.2460G>C c.*6435G>C (n.*6435G>C) n.3026G>C c.6565G>C (p.Gly2189Arg) c.6577G>C (p.Gly2193Arg) c.6712G>C (p.Gly2238Arg) c.21G>C n.701G>C | |
| 17 | g.1651249C>T | CA397564064 | PRPF8 | c.6532G>A (p.Gly2178Ser) c.2460G>A c.*6435G>A (n.*6435G>A) n.3026G>A c.6565G>A (p.Gly2189Ser) c.6577G>A (p.Gly2193Ser) c.6712G>A (p.Gly2238Ser) c.21G>A n.701G>A | |
| 17 | g.1651250C>A | CA397564065 | PRPF8 | c.6531G>T (p.Trp2177Cys) c.2459G>T c.*6434G>T (n.*6434G>T) n.3025G>T c.6564G>T (p.Trp2188Cys) c.6576G>T (p.Trp2192Cys) c.6711G>T (p.Trp2237Cys) c.20G>T n.700G>T | |
| 17 | g.1651250C>G | CA397564066 | PRPF8 | c.6531G>C (p.Trp2177Cys) c.2459G>C c.*6434G>C (n.*6434G>C) n.3025G>C c.6564G>C (p.Trp2188Cys) c.6576G>C (p.Trp2192Cys) c.6711G>C (p.Trp2237Cys) c.20G>C n.700G>C | |
| 17 | g.1651250C>T | CA397564067 | PRPF8 | c.6531G>A (p.Trp2177Ter) c.2459G>A c.*6434G>A (n.*6434G>A) n.3025G>A c.6564G>A (p.Trp2188Ter) c.6576G>A (p.Trp2192Ter) c.6711G>A (p.Trp2237Ter) c.20G>A n.700G>A | |
| 17 | g.1651251C>A | CA397564071 | PRPF8 | c.6530G>T (p.Trp2177Leu) c.2458G>T c.*6433G>T (n.*6433G>T) n.3024G>T c.6563G>T (p.Trp2188Leu) c.6575G>T (p.Trp2192Leu) c.6710G>T (p.Trp2237Leu) c.19G>T n.699G>T | |
| 17 | g.1651251C>G | CA397564072 | PRPF8 | c.6530G>C (p.Trp2177Ser) c.2458G>C c.*6433G>C (n.*6433G>C) n.3024G>C c.6563G>C (p.Trp2188Ser) c.6575G>C (p.Trp2192Ser) c.6710G>C (p.Trp2237Ser) c.19G>C n.699G>C | |
| 17 | g.1651251C>T | CA397564069 | PRPF8 | c.6530G>A (p.Trp2177Ter) c.2458G>A c.*6433G>A (n.*6433G>A) n.3024G>A c.6563G>A (p.Trp2188Ter) c.6575G>A (p.Trp2192Ter) c.6710G>A (p.Trp2237Ter) c.19G>A n.699G>A | |
| 17 | g.1651252A>C | CA397564073 | PRPF8 | c.6529T>G (p.Trp2177Gly) c.2457T>G c.*6432T>G (n.*6432T>G) n.3023T>G c.6562T>G (p.Trp2188Gly) c.6574T>G (p.Trp2192Gly) c.6709T>G (p.Trp2237Gly) c.18T>G n.698T>G | |
| 17 | g.1651252A>G | CA397564074 | PRPF8 | c.6529T>C (p.Trp2177Arg) c.2457T>C c.*6432T>C (n.*6432T>C) n.3023T>C c.6562T>C (p.Trp2188Arg) c.6574T>C (p.Trp2192Arg) c.6709T>C (p.Trp2237Arg) c.18T>C n.698T>C | |
| 17 | g.1651252A>T | CA397564076 | PRPF8 | c.6529T>A (p.Trp2177Arg) c.2457T>A c.*6432T>A (n.*6432T>A) n.3023T>A c.6562T>A (p.Trp2188Arg) c.6574T>A (p.Trp2192Arg) c.6709T>A (p.Trp2237Arg) c.18T>A n.698T>A | |
| 17 | g.1651253T>A | CA397564078 | PRPF8 | c.6528A>T (p.Glu2176Asp) c.2456A>T c.*6431A>T (n.*6431A>T) n.3022A>T c.6561A>T (p.Glu2187Asp) c.6573A>T (p.Glu2191Asp) c.6708A>T (p.Glu2236Asp) c.17A>T n.697A>T | |
| 17 | g.1651253T>C | CA8271109 | PRPF8 | c.6528A>G (p.Glu2176=) c.2456A>G c.*6431A>G (n.*6431A>G) n.3022A>G c.6561A>G (p.Glu2187=) c.6573A>G (p.Glu2191=) c.6708A>G (p.Glu2236=) c.17A>G n.697A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1651253T>G | CA397564080 | PRPF8 | c.6528A>C (p.Glu2176Asp) c.2456A>C c.*6431A>C (n.*6431A>C) n.3022A>C c.6561A>C (p.Glu2187Asp) c.6573A>C (p.Glu2191Asp) c.6708A>C (p.Glu2236Asp) c.17A>C n.697A>C | |
| 17 | g.1651253T= | CA2242977807 | PRPF8 | c.6528A= (p.Glu2176=) c.2456A= c.*6431A= (n.*6431A=) n.3022A= c.6561A= (p.Glu2187=) c.6573A= (p.Glu2191=) c.6708A= (p.Glu2236=) c.17A= n.697A= | |
| 17 | g.1651254T>A | CA397564081 | PRPF8 | c.6527A>T (p.Glu2176Val) c.2455A>T c.*6430A>T (n.*6430A>T) n.3021A>T c.6560A>T (p.Glu2187Val) c.6572A>T (p.Glu2191Val) c.6707A>T (p.Glu2236Val) c.16A>T n.696A>T | |
| 17 | g.1651254T>C | CA397564082 | PRPF8 | c.6527A>G (p.Glu2176Gly) c.2455A>G c.*6430A>G (n.*6430A>G) n.3021A>G c.6560A>G (p.Glu2187Gly) c.6572A>G (p.Glu2191Gly) c.6707A>G (p.Glu2236Gly) c.16A>G n.696A>G | |
| 17 | g.1651254T>G | CA397564084 | PRPF8 | c.6527A>C (p.Glu2176Ala) c.2455A>C c.*6430A>C (n.*6430A>C) n.3021A>C c.6560A>C (p.Glu2187Ala) c.6572A>C (p.Glu2191Ala) c.6707A>C (p.Glu2236Ala) c.16A>C n.696A>C | |
| 17 | g.1651255C>A | CA397564086 | PRPF8 | c.6526G>T (p.Glu2176Ter) c.2454G>T c.*6429G>T (n.*6429G>T) n.3020G>T c.6559G>T (p.Glu2187Ter) c.6571G>T (p.Glu2191Ter) c.6706G>T (p.Glu2236Ter) c.15G>T n.695G>T | |
| 17 | g.1651255C= | CA2242977809 | PRPF8 | c.6526G= (p.Glu2176=) c.2454G= c.*6429G= (n.*6429G=) n.3020G= c.6559G= (p.Glu2187=) c.6571G= (p.Glu2191=) c.6706G= (p.Glu2236=) c.15G= n.695G= | |
| 17 | g.1651255C>G | CA397564087 | PRPF8 | c.6526G>C (p.Glu2176Gln) c.2454G>C c.*6429G>C (n.*6429G>C) n.3020G>C c.6559G>C (p.Glu2187Gln) c.6571G>C (p.Glu2191Gln) c.6706G>C (p.Glu2236Gln) c.15G>C n.695G>C | |
| 17 | g.1651255C>T | CA397564089 | PRPF8 | c.6526G>A (p.Glu2176Lys) c.2454G>A c.*6429G>A (n.*6429G>A) n.3020G>A c.6559G>A (p.Glu2187Lys) c.6571G>A (p.Glu2191Lys) c.6706G>A (p.Glu2236Lys) c.15G>A n.695G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.1651256G>A | CA497388925 | PRPF8 | c.6525C>T (p.Tyr2175=) c.2453C>T c.*6428C>T (n.*6428C>T) n.3019C>T c.6558C>T (p.Tyr2186=) c.6570C>T (p.Tyr2190=) c.6705C>T (p.Tyr2235=) c.14C>T n.694C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1651256G>C | CA397564091 | PRPF8 | c.6525C>G (p.Tyr2175Ter) c.2453C>G c.*6428C>G (n.*6428C>G) n.3019C>G c.6558C>G (p.Tyr2186Ter) c.6570C>G (p.Tyr2190Ter) c.6705C>G (p.Tyr2235Ter) c.14C>G n.694C>G | |
| 17 | g.1651256G= | CA2242977811 | PRPF8 | c.6525C= (p.Tyr2175=) c.2453C= c.*6428C= (n.*6428C=) n.3019C= c.6558C= (p.Tyr2186=) c.6570C= (p.Tyr2190=) c.6705C= (p.Tyr2235=) c.14C= n.694C= | |
| 17 | g.1651256G>T | CA397564090 | PRPF8 | c.6525C>A (p.Tyr2175Ter) c.2453C>A c.*6428C>A (n.*6428C>A) n.3019C>A c.6558C>A (p.Tyr2186Ter) c.6570C>A (p.Tyr2190Ter) c.6705C>A (p.Tyr2235Ter) c.14C>A n.694C>A | |
| 17 | g.1651257T>A | CA397564093 | PRPF8 | c.6524A>T (p.Tyr2175Phe) c.2452A>T c.*6427A>T (n.*6427A>T) n.3018A>T c.6557A>T (p.Tyr2186Phe) c.6569A>T (p.Tyr2190Phe) c.6704A>T (p.Tyr2235Phe) c.13A>T n.693A>T | |
| 17 | g.1651257T>C | CA397564094 | PRPF8 | c.6524A>G (p.Tyr2175Cys) c.2452A>G c.*6427A>G (n.*6427A>G) n.3018A>G c.6557A>G (p.Tyr2186Cys) c.6569A>G (p.Tyr2190Cys) c.6704A>G (p.Tyr2235Cys) c.13A>G n.693A>G | |
| 17 | g.1651257T>G | CA397564096 | PRPF8 | c.6524A>C (p.Tyr2175Ser) c.2452A>C c.*6427A>C (n.*6427A>C) n.3018A>C c.6557A>C (p.Tyr2186Ser) c.6569A>C (p.Tyr2190Ser) c.6704A>C (p.Tyr2235Ser) c.13A>C n.693A>C | |
| 17 | g.1651258A>C | CA397564097 | PRPF8 | c.6523T>G (p.Tyr2175Asp) c.2451T>G c.*6426T>G (n.*6426T>G) n.3017T>G c.6556T>G (p.Tyr2186Asp) c.6568T>G (p.Tyr2190Asp) c.6703T>G (p.Tyr2235Asp) c.12T>G n.692T>G | |
| 17 | g.1651258A>G | CA397564099 | PRPF8 | c.6523T>C (p.Tyr2175His) c.2451T>C c.*6426T>C (n.*6426T>C) n.3017T>C c.6556T>C (p.Tyr2186His) c.6568T>C (p.Tyr2190His) c.6703T>C (p.Tyr2235His) c.12T>C n.692T>C | |
| 17 | g.1651258A>T | CA397564100 | PRPF8 | c.6523T>A (p.Tyr2175Asn) c.2451T>A c.*6426T>A (n.*6426T>A) n.3017T>A c.6556T>A (p.Tyr2186Asn) c.6568T>A (p.Tyr2190Asn) c.6703T>A (p.Tyr2235Asn) c.12T>A n.692T>A | |
| 17 | g.1651259G>A | CA497388926 | PRPF8 | c.6522C>T (p.Gly2174=) c.2450C>T c.*6425C>T (n.*6425C>T) n.3016C>T c.6555C>T (p.Gly2185=) c.6567C>T (p.Gly2189=) c.6702C>T (p.Gly2234=) c.11C>T n.691C>T | |
| 17 | g.1651259G>C | CA497388927 | PRPF8 | c.6522C>G (p.Gly2174=) c.2450C>G c.*6425C>G (n.*6425C>G) n.3016C>G c.6555C>G (p.Gly2185=) c.6567C>G (p.Gly2189=) c.6702C>G (p.Gly2234=) c.11C>G n.691C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.1651259G= | CA2242977814 | PRPF8 | c.6522C= (p.Gly2174=) c.2450C= c.*6425C= (n.*6425C=) n.3016C= c.6555C= (p.Gly2185=) c.6567C= (p.Gly2189=) c.6702C= (p.Gly2234=) c.11C= n.691C= | |
| 17 | g.1651259G>T | CA497388928 | PRPF8 | c.6522C>A (p.Gly2174=) c.2450C>A c.*6425C>A (n.*6425C>A) n.3016C>A c.6555C>A (p.Gly2185=) c.6567C>A (p.Gly2189=) c.6702C>A (p.Gly2234=) c.11C>A n.691C>A | |
| 17 | g.1651260C>A | CA397564102 | PRPF8 | c.6521G>T (p.Gly2174Val) c.2449G>T c.*6424G>T (n.*6424G>T) n.3015G>T c.6554G>T (p.Gly2185Val) c.6566G>T (p.Gly2189Val) c.6701G>T (p.Gly2234Val) c.10G>T n.690G>T | |
| 17 | g.1651260C>G | CA397564103 | PRPF8 | c.6521G>C (p.Gly2174Ala) c.2449G>C c.*6424G>C (n.*6424G>C) n.3015G>C c.6554G>C (p.Gly2185Ala) c.6566G>C (p.Gly2189Ala) c.6701G>C (p.Gly2234Ala) c.10G>C n.690G>C | |
| 17 | g.1651260C>T | CA397564105 | PRPF8 | c.6521G>A (p.Gly2174Asp) c.2449G>A c.*6424G>A (n.*6424G>A) n.3015G>A c.6554G>A (p.Gly2185Asp) c.6566G>A (p.Gly2189Asp) c.6701G>A (p.Gly2234Asp) c.10G>A n.690G>A | |
| 17 | g.1651261C>A | CA397564106 | PRPF8 | c.6520G>T (p.Gly2174Cys) c.2448G>T c.*6423G>T (n.*6423G>T) n.3014G>T c.6553G>T (p.Gly2185Cys) c.6565G>T (p.Gly2189Cys) c.6700G>T (p.Gly2234Cys) c.9G>T n.689G>T | |
| 17 | g.1651261C>G | CA397564108 | PRPF8 | c.6520G>C (p.Gly2174Arg) c.2448G>C c.*6423G>C (n.*6423G>C) n.3014G>C c.6553G>C (p.Gly2185Arg) c.6565G>C (p.Gly2189Arg) c.6700G>C (p.Gly2234Arg) c.9G>C n.689G>C | |
| 17 | g.1651261C>T | CA397564109 | PRPF8 | c.6520G>A (p.Gly2174Ser) c.2448G>A c.*6423G>A (n.*6423G>A) n.3014G>A c.6553G>A (p.Gly2185Ser) c.6565G>A (p.Gly2189Ser) c.6700G>A (p.Gly2234Ser) c.9G>A n.689G>A | |
| 17 | g.1651262A= | CA2242977816 | PRPF8 | c.6519T= (p.Ser2173=) c.2447T= c.*6422T= (n.*6422T=) n.3013T= c.6552T= (p.Ser2184=) c.6564T= (p.Ser2188=) c.6699T= (p.Ser2233=) c.8T= n.688T= | |
| 17 | g.1651262A>C | CA397564110 | PRPF8 | c.6519T>G (p.Ser2173Arg) c.2447T>G c.*6422T>G (n.*6422T>G) n.3013T>G c.6552T>G (p.Ser2184Arg) c.6564T>G (p.Ser2188Arg) c.6699T>G (p.Ser2233Arg) c.8T>G n.688T>G | |
| 17 | g.1651262A>G | CA497388929 | PRPF8 | c.6519T>C (p.Ser2173=) c.2447T>C c.*6422T>C (n.*6422T>C) n.3013T>C c.6552T>C (p.Ser2184=) c.6564T>C (p.Ser2188=) c.6699T>C (p.Ser2233=) c.8T>C n.688T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1651262A>T | CA397564111 | PRPF8 | c.6519T>A (p.Ser2173Arg) c.2447T>A c.*6422T>A (n.*6422T>A) n.3013T>A c.6552T>A (p.Ser2184Arg) c.6564T>A (p.Ser2188Arg) c.6699T>A (p.Ser2233Arg) c.8T>A n.688T>A | |
| 17 | g.1651263C>A | CA397564113 | PRPF8 | c.6518G>T (p.Ser2173Ile) c.2446G>T c.*6421G>T (n.*6421G>T) n.3012G>T c.6551G>T (p.Ser2184Ile) c.6563G>T (p.Ser2188Ile) c.6698G>T (p.Ser2233Ile) c.7G>T n.687G>T | |
| 17 | g.1651263C>G | CA397564114 | PRPF8 | c.6518G>C (p.Ser2173Thr) c.2446G>C c.*6421G>C (n.*6421G>C) n.3012G>C c.6551G>C (p.Ser2184Thr) c.6563G>C (p.Ser2188Thr) c.6698G>C (p.Ser2233Thr) c.7G>C n.687G>C | |
| 17 | g.1651263C>T | CA397564112 | PRPF8 | c.6518G>A (p.Ser2173Asn) c.2446G>A c.*6421G>A (n.*6421G>A) n.3012G>A c.6551G>A (p.Ser2184Asn) c.6563G>A (p.Ser2188Asn) c.6698G>A (p.Ser2233Asn) c.7G>A n.687G>A | |
| 17 | g.1651264T>A | CA397564117 | PRPF8 | c.6517A>T (p.Ser2173Cys) c.2445A>T c.*6420A>T (n.*6420A>T) n.3011A>T c.6550A>T (p.Ser2184Cys) c.6562A>T (p.Ser2188Cys) c.6697A>T (p.Ser2233Cys) c.6A>T n.686A>T | |
| 17 | g.1651264T>C | CA397564115 | PRPF8 | c.6517A>G (p.Ser2173Gly) c.2445A>G c.*6420A>G (n.*6420A>G) n.3011A>G c.6550A>G (p.Ser2184Gly) c.6562A>G (p.Ser2188Gly) c.6697A>G (p.Ser2233Gly) c.6A>G n.686A>G | |
| 17 | g.1651264T>G | CA397564116 | PRPF8 | c.6517A>C (p.Ser2173Arg) c.2445A>C c.*6420A>C (n.*6420A>C) n.3011A>C c.6550A>C (p.Ser2184Arg) c.6562A>C (p.Ser2188Arg) c.6697A>C (p.Ser2233Arg) c.6A>C n.686A>C | |
| 17 | g.1651265G>A | CA8271110 | PRPF8 | c.6516C>T (p.Pro2172=) c.2444C>T c.*6419C>T (n.*6419C>T) n.3010C>T c.6549C>T (p.Pro2183=) c.6561C>T (p.Pro2187=) c.6696C>T (p.Pro2232=) c.5C>T n.685C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1651265G>C | CA497388930 | PRPF8 | c.6516C>G (p.Pro2172=) c.2444C>G c.*6419C>G (n.*6419C>G) n.3010C>G c.6549C>G (p.Pro2183=) c.6561C>G (p.Pro2187=) c.6696C>G (p.Pro2232=) c.5C>G n.685C>G | |
| 17 | g.1651265G= | CA2242977819 | PRPF8 | c.6516C= (p.Pro2172=) c.2444C= c.*6419C= (n.*6419C=) n.3010C= c.6549C= (p.Pro2183=) c.6561C= (p.Pro2187=) c.6696C= (p.Pro2232=) c.5C= n.685C= | |
| 17 | g.1651265G>T | CA497388931 | PRPF8 | c.6516C>A (p.Pro2172=) c.2444C>A c.*6419C>A (n.*6419C>A) n.3010C>A c.6549C>A (p.Pro2183=) c.6561C>A (p.Pro2187=) c.6696C>A (p.Pro2232=) c.5C>A n.685C>A | |
| 17 | g.1651269del | CA2576113178 | PRPF8 | c.6516del (p.Ser2173ValfsTer?) c.2444del c.*6419del (n.*6419del) n.3010del c.6549del (p.Ser2184ValfsTer?) c.6561del (p.Ser2188ValfsTer?) c.6696del (p.Ser2233ValfsTer?) c.5del n.685del | |
| 17 | g.1651266G>A | CA397564118 | PRPF8 | c.6515C>T (p.Pro2172Leu) c.2443C>T c.*6418C>T (n.*6418C>T) n.3009C>T c.6548C>T (p.Pro2183Leu) c.6560C>T (p.Pro2187Leu) c.6695C>T (p.Pro2232Leu) c.4C>T n.684C>T | gnomAD v4 |
| 17 | g.1651266G>C | CA397564119 | PRPF8 | c.6515C>G (p.Pro2172Arg) c.2443C>G c.*6418C>G (n.*6418C>G) n.3009C>G c.6548C>G (p.Pro2183Arg) c.6560C>G (p.Pro2187Arg) c.6695C>G (p.Pro2232Arg) c.4C>G n.684C>G | |
| 17 | g.1651266G>T | CA397564120 | PRPF8 | c.6515C>A (p.Pro2172His) c.2443C>A c.*6418C>A (n.*6418C>A) n.3009C>A c.6548C>A (p.Pro2183His) c.6560C>A (p.Pro2187His) c.6695C>A (p.Pro2232His) c.4C>A n.684C>A | |
| 17 | g.1651267G>A | CA397564123 | PRPF8 | c.6514C>T (p.Pro2172Ser) c.2442C>T c.*6417C>T (n.*6417C>T) n.3008C>T c.6547C>T (p.Pro2183Ser) c.6559C>T (p.Pro2187Ser) c.6694C>T (p.Pro2232Ser) c.3C>T n.683C>T | |
| 17 | g.1651267G>C | CA397564122 | PRPF8 | c.6514C>G (p.Pro2172Ala) c.2442C>G c.*6417C>G (n.*6417C>G) n.3008C>G c.6547C>G (p.Pro2183Ala) c.6559C>G (p.Pro2187Ala) c.6694C>G (p.Pro2232Ala) c.3C>G n.683C>G | |
| 17 | g.1651267G>T | CA397564121 | PRPF8 | c.6514C>A (p.Pro2172Thr) c.2442C>A c.*6417C>A (n.*6417C>A) n.3008C>A c.6547C>A (p.Pro2183Thr) c.6559C>A (p.Pro2187Thr) c.6694C>A (p.Pro2232Thr) c.3C>A n.683C>A | |
| 17 | g.1651268G>A | CA497388933 | PRPF8 | c.6513C>T (p.Thr2171=) c.2441C>T c.*6416C>T (n.*6416C>T) n.3007C>T c.6546C>T (p.Thr2182=) c.6558C>T (p.Thr2186=) c.6693C>T (p.Thr2231=) c.2C>T n.682C>T | |
| 17 | g.1651268G>C | CA497388934 | PRPF8 | c.6513C>G (p.Thr2171=) c.2441C>G c.*6416C>G (n.*6416C>G) n.3007C>G c.6546C>G (p.Thr2182=) c.6558C>G (p.Thr2186=) c.6693C>G (p.Thr2231=) c.2C>G n.682C>G | |
| 17 | g.1651268G>T | CA497388932 | PRPF8 | c.6513C>A (p.Thr2171=) c.2441C>A c.*6416C>A (n.*6416C>A) n.3007C>A c.6546C>A (p.Thr2182=) c.6558C>A (p.Thr2186=) c.6693C>A (p.Thr2231=) c.2C>A n.682C>A | gnomAD v4 |
| 17 | g.1651269G>A | CA397564124 | PRPF8 | c.6512C>T (p.Thr2171Ile) c.2440C>T c.*6415C>T (n.*6415C>T) n.3006C>T c.6545C>T (p.Thr2182Ile) c.6557C>T (p.Thr2186Ile) c.6692C>T (p.Thr2231Ile) c.1C>T n.681C>T | |
| 17 | g.1651269G>C | CA397564125 | PRPF8 | c.6512C>G (p.Thr2171Ser) c.2440C>G c.*6415C>G (n.*6415C>G) n.3006C>G c.6545C>G (p.Thr2182Ser) c.6557C>G (p.Thr2186Ser) c.6692C>G (p.Thr2231Ser) c.1C>G n.681C>G | dbSNP gnomAD v2 |
| 17 | g.1651269G= | CA2242977823 | PRPF8 | c.6512C= (p.Thr2171=) c.2440C= c.*6415C= (n.*6415C=) n.3006C= c.6545C= (p.Thr2182=) c.6557C= (p.Thr2186=) c.6692C= (p.Thr2231=) c.1C= n.681C= | |
| 17 | g.1651269G>T | CA397564126 | PRPF8 | c.6512C>A (p.Thr2171Asn) c.2440C>A c.*6415C>A (n.*6415C>A) n.3006C>A c.6545C>A (p.Thr2182Asn) c.6557C>A (p.Thr2186Asn) c.6692C>A (p.Thr2231Asn) c.1C>A n.681C>A | |
| 17 | g.1651269_1651270insAGTC | CA2808190834 | PRPF8 | c.6511_6512insGACT (p.Thr2171ArgfsTer28) c.2439_2440insGACT c.*6414_*6415insGACT (n.*6414_*6415insGACT) n.3005_3006insGACT c.6544_6545insGACT (p.Thr2182ArgfsTer28) c.6556_6557insGACT (p.Thr2186ArgfsTer28) c.6691_6692insGACT (p.Thr2231ArgfsTer28) n.680_681insGACT | |
| 17 | g.1651270T>A | CA397564127 | PRPF8 | c.6511A>T (p.Thr2171Ser) c.2439A>T c.*6414A>T (n.*6414A>T) n.3005A>T c.6544A>T (p.Thr2182Ser) c.6556A>T (p.Thr2186Ser) c.6691A>T (p.Thr2231Ser) n.680A>T | |
| 17 | g.1651270T>C | CA397564128 | PRPF8 | c.6511A>G (p.Thr2171Ala) c.2439A>G c.*6414A>G (n.*6414A>G) n.3005A>G c.6544A>G (p.Thr2182Ala) c.6556A>G (p.Thr2186Ala) c.6691A>G (p.Thr2231Ala) n.680A>G | |
| 17 | g.1651270T>G | CA397564129 | PRPF8 | c.6511A>C (p.Thr2171Pro) c.2439A>C c.*6414A>C (n.*6414A>C) n.3005A>C c.6544A>C (p.Thr2182Pro) c.6556A>C (p.Thr2186Pro) c.6691A>C (p.Thr2231Pro) n.680A>C | |
| 17 | g.1651271C>A | CA497388935 | PRPF8 | c.6510G>T (p.Leu2170=) c.2438G>T c.*6413G>T (n.*6413G>T) n.3004G>T c.6543G>T (p.Leu2181=) c.6555G>T (p.Leu2185=) c.6690G>T (p.Leu2230=) n.679G>T | |
| 17 | g.1651271C>G | CA497388936 | PRPF8 | c.6510G>C (p.Leu2170=) c.2438G>C c.*6413G>C (n.*6413G>C) n.3004G>C c.6543G>C (p.Leu2181=) c.6555G>C (p.Leu2185=) c.6690G>C (p.Leu2230=) n.679G>C | gnomAD v4 |
| 17 | g.1651271C>T | CA497388937 | PRPF8 | c.6510G>A (p.Leu2170=) c.2438G>A c.*6413G>A (n.*6413G>A) n.3004G>A c.6543G>A (p.Leu2181=) c.6555G>A (p.Leu2185=) c.6690G>A (p.Leu2230=) n.679G>A | ClinVar |
| 17 | g.1651272A= | CA2242977826 | PRPF8 | c.6509T= (p.Leu2170=) c.2437T= c.*6412T= (n.*6412T=) n.3003T= c.6542T= (p.Leu2181=) c.6554T= (p.Leu2185=) c.6689T= (p.Leu2230=) n.678T= | |
| 17 | g.1651272A>C | CA397564130 | PRPF8 | c.6509T>G (p.Leu2170Arg) c.2437T>G c.*6412T>G (n.*6412T>G) n.3003T>G c.6542T>G (p.Leu2181Arg) c.6554T>G (p.Leu2185Arg) c.6689T>G (p.Leu2230Arg) n.678T>G | |
| 17 | g.1651272A>G | CA397564132 | PRPF8 | c.6509T>C (p.Leu2170Pro) c.2437T>C c.*6412T>C (n.*6412T>C) n.3003T>C c.6542T>C (p.Leu2181Pro) c.6554T>C (p.Leu2185Pro) c.6689T>C (p.Leu2230Pro) n.678T>C | |
| 17 | g.1651272A>T | CA397564131 | PRPF8 | c.6509T>A (p.Leu2170Gln) c.2437T>A c.*6412T>A (n.*6412T>A) n.3003T>A c.6542T>A (p.Leu2181Gln) c.6554T>A (p.Leu2185Gln) c.6689T>A (p.Leu2230Gln) n.678T>A | dbSNP |
| 17 | g.1651273G>A | CA497388938 | PRPF8 | c.6508C>T (p.Leu2170=) c.2436C>T c.*6411C>T (n.*6411C>T) n.3002C>T c.6541C>T (p.Leu2181=) c.6553C>T (p.Leu2185=) c.6688C>T (p.Leu2230=) n.677C>T | |
| 17 | g.1651273G>C | CA397564133 | PRPF8 | c.6508C>G (p.Leu2170Val) c.2436C>G c.*6411C>G (n.*6411C>G) n.3002C>G c.6541C>G (p.Leu2181Val) c.6553C>G (p.Leu2185Val) c.6688C>G (p.Leu2230Val) n.677C>G | |
| 17 | g.1651273G>T | CA397564134 | PRPF8 | c.6508C>A (p.Leu2170Met) c.2436C>A c.*6411C>A (n.*6411C>A) n.3002C>A c.6541C>A (p.Leu2181Met) c.6553C>A (p.Leu2185Met) c.6688C>A (p.Leu2230Met) n.677C>A | |
| 17 | g.1651274C>A | CA397564135 | PRPF8 | c.6507G>T (p.Lys2169Asn) c.2435G>T c.*6410G>T (n.*6410G>T) n.3001G>T c.6540G>T (p.Lys2180Asn) c.6552G>T (p.Lys2184Asn) c.6687G>T (p.Lys2229Asn) n.676G>T | |
| 17 | g.1651274C>G | CA397564136 | PRPF8 | c.6507G>C (p.Lys2169Asn) c.2435G>C c.*6410G>C (n.*6410G>C) n.3001G>C c.6540G>C (p.Lys2180Asn) c.6552G>C (p.Lys2184Asn) c.6687G>C (p.Lys2229Asn) n.676G>C | |
| 17 | g.1651274C>T | CA497388939 | PRPF8 | c.6507G>A (p.Lys2169=) c.2435G>A c.*6410G>A (n.*6410G>A) n.3001G>A c.6540G>A (p.Lys2180=) c.6552G>A (p.Lys2184=) c.6687G>A (p.Lys2229=) n.676G>A | |
| 17 | g.1651275T>A | CA397564137 | PRPF8 | c.6506A>T (p.Lys2169Met) c.2434A>T c.*6409A>T (n.*6409A>T) n.3000A>T c.6539A>T (p.Lys2180Met) c.6551A>T (p.Lys2184Met) c.6686A>T (p.Lys2229Met) n.675A>T | |
| 17 | g.1651275T>C | CA397564138 | PRPF8 | c.6506A>G (p.Lys2169Arg) c.2434A>G c.*6409A>G (n.*6409A>G) n.3000A>G c.6539A>G (p.Lys2180Arg) c.6551A>G (p.Lys2184Arg) c.6686A>G (p.Lys2229Arg) n.675A>G | |
| 17 | g.1651275T>G | CA397564139 | PRPF8 | c.6506A>C (p.Lys2169Thr) c.2434A>C c.*6409A>C (n.*6409A>C) n.3000A>C c.6539A>C (p.Lys2180Thr) c.6551A>C (p.Lys2184Thr) c.6686A>C (p.Lys2229Thr) n.675A>C | |
| 17 | g.1651276T>A | CA397564140 | PRPF8 | c.6505A>T (p.Lys2169Ter) c.2433A>T c.*6408A>T (n.*6408A>T) n.2999A>T c.6538A>T (p.Lys2180Ter) c.6550A>T (p.Lys2184Ter) c.6685A>T (p.Lys2229Ter) n.674A>T | |
| 17 | g.1651276T>C | CA397564141 | PRPF8 | c.6505A>G (p.Lys2169Glu) c.2433A>G c.*6408A>G (n.*6408A>G) n.2999A>G c.6538A>G (p.Lys2180Glu) c.6550A>G (p.Lys2184Glu) c.6685A>G (p.Lys2229Glu) n.674A>G | |
| 17 | g.1651276T>G | CA397564142 | PRPF8 | c.6505A>C (p.Lys2169Gln) c.2433A>C c.*6408A>C (n.*6408A>C) n.2999A>C c.6538A>C (p.Lys2180Gln) c.6550A>C (p.Lys2184Gln) c.6685A>C (p.Lys2229Gln) n.674A>C | |
| 17 | g.1651277G>A | CA497388940 | PRPF8 | c.6504C>T (p.Tyr2168=) c.2432C>T c.*6407C>T (n.*6407C>T) n.2998C>T c.6537C>T (p.Tyr2179=) c.6549C>T (p.Tyr2183=) c.6684C>T (p.Tyr2228=) n.673C>T | |
| 17 | g.1651277G>C | CA397564143 | PRPF8 | c.6504C>G (p.Tyr2168Ter) c.2432C>G c.*6407C>G (n.*6407C>G) n.2998C>G c.6537C>G (p.Tyr2179Ter) c.6549C>G (p.Tyr2183Ter) c.6684C>G (p.Tyr2228Ter) n.673C>G | |
| 17 | g.1651277G>T | CA397564144 | PRPF8 | c.6504C>A (p.Tyr2168Ter) c.2432C>A c.*6407C>A (n.*6407C>A) n.2998C>A c.6537C>A (p.Tyr2179Ter) c.6549C>A (p.Tyr2183Ter) c.6684C>A (p.Tyr2228Ter) n.673C>A | |
| 17 | g.1651278del | CA2576113179 | PRPF8 | c.6503del (p.Tyr2168SerfsTer3) c.2431del c.*6406del (n.*6406del) n.2997del c.6536del (p.Tyr2179SerfsTer3) c.6548del (p.Tyr2183SerfsTer3) c.6683del (p.Tyr2228SerfsTer3) n.672del | |
| 17 | g.1651278T>A | CA397564145 | PRPF8 | c.6503A>T (p.Tyr2168Phe) c.2431A>T c.*6406A>T (n.*6406A>T) n.2997A>T c.6536A>T (p.Tyr2179Phe) c.6548A>T (p.Tyr2183Phe) c.6683A>T (p.Tyr2228Phe) n.672A>T | gnomAD v4 |
| 17 | g.1651278T>C | CA397564147 | PRPF8 | c.6503A>G (p.Tyr2168Cys) c.2431A>G c.*6406A>G (n.*6406A>G) n.2997A>G c.6536A>G (p.Tyr2179Cys) c.6548A>G (p.Tyr2183Cys) c.6683A>G (p.Tyr2228Cys) n.672A>G | |
| 17 | g.1651278T>G | CA397564146 | PRPF8 | c.6503A>C (p.Tyr2168Ser) c.2431A>C c.*6406A>C (n.*6406A>C) n.2997A>C c.6536A>C (p.Tyr2179Ser) c.6548A>C (p.Tyr2183Ser) c.6683A>C (p.Tyr2228Ser) n.672A>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.1651278T= | CA2242977829 | PRPF8 | c.6503A= (p.Tyr2168=) c.2431A= c.*6406A= (n.*6406A=) n.2997A= c.6536A= (p.Tyr2179=) c.6548A= (p.Tyr2183=) c.6683A= (p.Tyr2228=) n.672A= | |
| 17 | g.1651279A>C | CA397564148 | PRPF8 | c.6502T>G (p.Tyr2168Asp) c.2430T>G c.*6405T>G (n.*6405T>G) n.2996T>G c.6535T>G (p.Tyr2179Asp) c.6547T>G (p.Tyr2183Asp) c.6682T>G (p.Tyr2228Asp) n.671T>G | |
| 17 | g.1651279A>G | CA397564149 | PRPF8 | c.6502T>C (p.Tyr2168His) c.2430T>C c.*6405T>C (n.*6405T>C) n.2996T>C c.6535T>C (p.Tyr2179His) c.6547T>C (p.Tyr2183His) c.6682T>C (p.Tyr2228His) n.671T>C | |
| 17 | g.1651279A>T | CA397564150 | PRPF8 | c.6502T>A (p.Tyr2168Asn) c.2430T>A c.*6405T>A (n.*6405T>A) n.2996T>A c.6535T>A (p.Tyr2179Asn) c.6547T>A (p.Tyr2183Asn) c.6682T>A (p.Tyr2228Asn) n.671T>A | |
| 17 | g.1651280G>A | CA497388942 | PRPF8 | c.6501C>T (p.Ala2167=) c.2429C>T c.*6404C>T (n.*6404C>T) n.2995C>T c.6534C>T (p.Ala2178=) c.6546C>T (p.Ala2182=) c.6681C>T (p.Ala2227=) n.670C>T | |
| 17 | g.1651280G>C | CA497388943 | PRPF8 | c.6501C>G (p.Ala2167=) c.2429C>G c.*6404C>G (n.*6404C>G) n.2995C>G c.6534C>G (p.Ala2178=) c.6546C>G (p.Ala2182=) c.6681C>G (p.Ala2227=) n.670C>G | |
| 17 | g.1651280G>T | CA497388941 | PRPF8 | c.6501C>A (p.Ala2167=) c.2429C>A c.*6404C>A (n.*6404C>A) n.2995C>A c.6534C>A (p.Ala2178=) c.6546C>A (p.Ala2182=) c.6681C>A (p.Ala2227=) n.670C>A | |
| 17 | g.1651281G>A | CA397564151 | PRPF8 | c.6500C>T (p.Ala2167Val) c.2428C>T c.*6403C>T (n.*6403C>T) n.2994C>T c.6533C>T (p.Ala2178Val) c.6545C>T (p.Ala2182Val) c.6680C>T (p.Ala2227Val) n.669C>T | dbSNP |
| 17 | g.1651281G>C | CA397564152 | PRPF8 | c.6500C>G (p.Ala2167Gly) c.2428C>G c.*6403C>G (n.*6403C>G) n.2994C>G c.6533C>G (p.Ala2178Gly) c.6545C>G (p.Ala2182Gly) c.6680C>G (p.Ala2227Gly) n.669C>G | |
| 17 | g.1651281G= | CA2242977832 | PRPF8 | c.6500C= (p.Ala2167=) c.2428C= c.*6403C= (n.*6403C=) n.2994C= c.6533C= (p.Ala2178=) c.6545C= (p.Ala2182=) c.6680C= (p.Ala2227=) n.669C= | |
| 17 | g.1651281G>T | CA397564153 | PRPF8 | c.6500C>A (p.Ala2167Asp) c.2428C>A c.*6403C>A (n.*6403C>A) n.2994C>A c.6533C>A (p.Ala2178Asp) c.6545C>A (p.Ala2182Asp) c.6680C>A (p.Ala2227Asp) n.669C>A | |
| 17 | g.1651282C>A | CA397564154 | PRPF8 | c.6499G>T (p.Ala2167Ser) c.2427G>T c.*6402G>T (n.*6402G>T) n.2993G>T c.6532G>T (p.Ala2178Ser) c.6544G>T (p.Ala2182Ser) c.6679G>T (p.Ala2227Ser) n.668G>T | |
| 17 | g.1651282C= | CA2242977834 | PRPF8 | c.6499G= (p.Ala2167=) c.2427G= c.*6402G= (n.*6402G=) n.2993G= c.6532G= (p.Ala2178=) c.6544G= (p.Ala2182=) c.6679G= (p.Ala2227=) n.668G= | |
| 17 | g.1651282C>G | CA397564155 | PRPF8 | c.6499G>C (p.Ala2167Pro) c.2427G>C c.*6402G>C (n.*6402G>C) n.2993G>C c.6532G>C (p.Ala2178Pro) c.6544G>C (p.Ala2182Pro) c.6679G>C (p.Ala2227Pro) n.668G>C | |
| 17 | g.1651282C>T | CA397564156 | PRPF8 | c.6499G>A (p.Ala2167Thr) c.2427G>A c.*6402G>A (n.*6402G>A) n.2993G>A c.6532G>A (p.Ala2178Thr) c.6544G>A (p.Ala2182Thr) c.6679G>A (p.Ala2227Thr) n.668G>A | dbSNP gnomAD v2 |
| 17 | g.1651283C>A | CA497388945 | PRPF8 | c.6498G>T (p.Thr2166=) c.2426G>T c.*6401G>T (n.*6401G>T) n.2992G>T c.6531G>T (p.Thr2177=) c.6543G>T (p.Thr2181=) c.6678G>T (p.Thr2226=) n.667G>T | dbSNP |
| 17 | g.1651283C= | CA2242977835 | PRPF8 | c.6498G= (p.Thr2166=) c.2426G= c.*6401G= (n.*6401G=) n.2992G= c.6531G= (p.Thr2177=) c.6543G= (p.Thr2181=) c.6678G= (p.Thr2226=) n.667G= | |
| 17 | g.1651283C>G | CA497388944 | PRPF8 | c.6498G>C (p.Thr2166=) c.2426G>C c.*6401G>C (n.*6401G>C) n.2992G>C c.6531G>C (p.Thr2177=) c.6543G>C (p.Thr2181=) c.6678G>C (p.Thr2226=) n.667G>C | |
| 17 | g.1651283C>T | CA286850036 | PRPF8 | c.6498G>A (p.Thr2166=) c.2426G>A c.*6401G>A (n.*6401G>A) n.2992G>A c.6531G>A (p.Thr2177=) c.6543G>A (p.Thr2181=) c.6678G>A (p.Thr2226=) n.667G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1651283_1651284insA | CA2739290884 | PRPF8 | c.6497_6498insT (p.Ala2167GlyfsTer?) c.2425_2426insT c.*6400_*6401insT (n.*6400_*6401insT) n.2991_2992insT c.6530_6531insT (p.Ala2178GlyfsTer?) c.6542_6543insT (p.Ala2182GlyfsTer?) c.6677_6678insT (p.Ala2227GlyfsTer?) n.666_667insT | |
| 17 | g.1651284G>A | CA8271111 | PRPF8 | c.6497C>T (p.Thr2166Met) c.2425C>T c.*6400C>T (n.*6400C>T) n.2991C>T c.6530C>T (p.Thr2177Met) c.6542C>T (p.Thr2181Met) c.6677C>T (p.Thr2226Met) n.666C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1651284G>C | CA397564157 | PRPF8 | c.6497C>G (p.Thr2166Arg) c.2425C>G c.*6400C>G (n.*6400C>G) n.2991C>G c.6530C>G (p.Thr2177Arg) c.6542C>G (p.Thr2181Arg) c.6677C>G (p.Thr2226Arg) n.666C>G | |
| 17 | g.1651284G= | CA2242977837 | PRPF8 | c.6497C= (p.Thr2166=) c.2425C= c.*6400C= (n.*6400C=) n.2991C= c.6530C= (p.Thr2177=) c.6542C= (p.Thr2181=) c.6677C= (p.Thr2226=) n.666C= | |
| 17 | g.1651284G>T | CA397564158 | PRPF8 | c.6497C>A (p.Thr2166Lys) c.2425C>A c.*6400C>A (n.*6400C>A) n.2991C>A c.6530C>A (p.Thr2177Lys) c.6542C>A (p.Thr2181Lys) c.6677C>A (p.Thr2226Lys) n.666C>A | |
| 17 | g.1651285T>A | CA397564161 | PRPF8 | c.6496A>T (p.Thr2166Ser) c.2424A>T c.*6399A>T (n.*6399A>T) n.2990A>T c.6529A>T (p.Thr2177Ser) c.6541A>T (p.Thr2181Ser) c.6676A>T (p.Thr2226Ser) n.665A>T | |
| 17 | g.1651285T>C | CA397564159 | PRPF8 | c.6496A>G (p.Thr2166Ala) c.2424A>G c.*6399A>G (n.*6399A>G) n.2990A>G c.6529A>G (p.Thr2177Ala) c.6541A>G (p.Thr2181Ala) c.6676A>G (p.Thr2226Ala) n.665A>G | |
| 17 | g.1651285T>G | CA397564160 | PRPF8 | c.6496A>C (p.Thr2166Pro) c.2424A>C c.*6399A>C (n.*6399A>C) n.2990A>C c.6529A>C (p.Thr2177Pro) c.6541A>C (p.Thr2181Pro) c.6676A>C (p.Thr2226Pro) n.665A>C | |
| 17 | g.1651286C>A | CA497388946 | PRPF8 | c.6495G>T (p.Leu2165=) c.2423G>T c.*6398G>T (n.*6398G>T) n.2989G>T c.6528G>T (p.Leu2176=) c.6540G>T (p.Leu2180=) c.6675G>T (p.Leu2225=) n.664G>T | |
| 17 | g.1651286C>G | CA497388948 | PRPF8 | c.6495G>C (p.Leu2165=) c.2423G>C c.*6398G>C (n.*6398G>C) n.2989G>C c.6528G>C (p.Leu2176=) c.6540G>C (p.Leu2180=) c.6675G>C (p.Leu2225=) n.664G>C | |
| 17 | g.1651286C>T | CA497388947 | PRPF8 | c.6495G>A (p.Leu2165=) c.2423G>A c.*6398G>A (n.*6398G>A) n.2989G>A c.6528G>A (p.Leu2176=) c.6540G>A (p.Leu2180=) c.6675G>A (p.Leu2225=) n.664G>A | gnomAD v4 |
| 17 | g.1651287A>C | CA397564162 | PRPF8 | c.6494T>G (p.Leu2165Arg) c.2422T>G c.*6397T>G (n.*6397T>G) n.2988T>G c.6527T>G (p.Leu2176Arg) c.6539T>G (p.Leu2180Arg) c.6674T>G (p.Leu2225Arg) n.663T>G | |
| 17 | g.1651287A>G | CA397564163 | PRPF8 | c.6494T>C (p.Leu2165Pro) c.2422T>C c.*6397T>C (n.*6397T>C) n.2988T>C c.6527T>C (p.Leu2176Pro) c.6539T>C (p.Leu2180Pro) c.6674T>C (p.Leu2225Pro) n.663T>C | |
| 17 | g.1651287A>T | CA397564164 | PRPF8 | c.6494T>A (p.Leu2165Gln) c.2422T>A c.*6397T>A (n.*6397T>A) n.2988T>A c.6527T>A (p.Leu2176Gln) c.6539T>A (p.Leu2180Gln) c.6674T>A (p.Leu2225Gln) n.663T>A | |
| 17 | g.1651287_1651290del | CA2808190835 | PRPF8 | c.6491_6494del (p.Thr2164ArgfsTer6) c.2419_2422del c.*6394_*6397del (n.*6394_*6397del) n.2985_2988del c.6524_6527del (p.Thr2175ArgfsTer6) c.6536_6539del (p.Thr2179ArgfsTer6) c.6671_6674del (p.Thr2224ArgfsTer6) n.660_663del | |
| 17 | g.1651288G>A | CA497388949 | PRPF8 | c.6493C>T (p.Leu2165=) c.2421C>T c.*6396C>T (n.*6396C>T) n.2987C>T c.6526C>T (p.Leu2176=) c.6538C>T (p.Leu2180=) c.6673C>T (p.Leu2225=) n.662C>T | |
| 17 | g.1651288G>C | CA397564165 | PRPF8 | c.6493C>G (p.Leu2165Val) c.2421C>G c.*6396C>G (n.*6396C>G) n.2987C>G c.6526C>G (p.Leu2176Val) c.6538C>G (p.Leu2180Val) c.6673C>G (p.Leu2225Val) n.662C>G | |
| 17 | g.1651288G>T | CA397564166 | PRPF8 | c.6493C>A (p.Leu2165Met) c.2421C>A c.*6396C>A (n.*6396C>A) n.2987C>A c.6526C>A (p.Leu2176Met) c.6538C>A (p.Leu2180Met) c.6673C>A (p.Leu2225Met) n.662C>A |