UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.7827421G>A | CA17265613 | PER3 | c.2492G>A (p.Gly831Asp) c.2468G>A (p.Gly823Asp) c.2471G>A (p.Gly824Asp) c.1535G>A (p.Gly512Asp) c.2489G>A (p.Gly830Asp) c.1967G>A (p.Gly656Asp) c.2324G>A (p.Gly775Asp) c.2144G>A (p.Gly715Asp) c.2129G>A (p.Gly710Asp) c.2123G>A (p.Gly708Asp) c.1100G>A (p.Gly367Asp) c.1946G>A (p.Gly649Asp) | dbSNP |
| 1 | g.7827421G>C | CA338149079 | PER3 | c.2492G>C (p.Gly831Ala) c.2468G>C (p.Gly823Ala) c.2471G>C (p.Gly824Ala) c.1535G>C (p.Gly512Ala) c.2489G>C (p.Gly830Ala) c.1967G>C (p.Gly656Ala) c.2324G>C (p.Gly775Ala) c.2144G>C (p.Gly715Ala) c.2129G>C (p.Gly710Ala) c.2123G>C (p.Gly708Ala) c.1100G>C (p.Gly367Ala) c.1946G>C (p.Gly649Ala) | |
| 1 | g.7827421G= | CA1152110896 | PER3 | c.2492G= (p.Gly831=) c.2468G= (p.Gly823=) c.2471G= (p.Gly824=) c.1535G= (p.Gly512=) c.2489G= (p.Gly830=) c.1967G= (p.Gly656=) c.2324G= (p.Gly775=) c.2144G= (p.Gly715=) c.2129G= (p.Gly710=) c.2123G= (p.Gly708=) c.1100G= (p.Gly367=) c.1946G= (p.Gly649=) | |
| 1 | g.7827421G>T | CA338149078 | PER3 | c.2492G>T (p.Gly831Val) c.2468G>T (p.Gly823Val) c.2471G>T (p.Gly824Val) c.1535G>T (p.Gly512Val) c.2489G>T (p.Gly830Val) c.1967G>T (p.Gly656Val) c.2324G>T (p.Gly775Val) c.2144G>T (p.Gly715Val) c.2129G>T (p.Gly710Val) c.2123G>T (p.Gly708Val) c.1100G>T (p.Gly367Val) c.1946G>T (p.Gly649Val) | |
| 1 | g.7827422C>A | CA416028148 | PER3 | c.2493C>A (p.Gly831=) c.2469C>A (p.Gly823=) c.2472C>A (p.Gly824=) c.1536C>A (p.Gly512=) c.2490C>A (p.Gly830=) c.1968C>A (p.Gly656=) c.2325C>A (p.Gly775=) c.2145C>A (p.Gly715=) c.2130C>A (p.Gly710=) c.2124C>A (p.Gly708=) c.1101C>A (p.Gly367=) c.1947C>A (p.Gly649=) | |
| 1 | g.7827422C= | CA1152110900 | PER3 | c.2493C= (p.Gly831=) c.2469C= (p.Gly823=) c.2472C= (p.Gly824=) c.1536C= (p.Gly512=) c.2490C= (p.Gly830=) c.1968C= (p.Gly656=) c.2325C= (p.Gly775=) c.2145C= (p.Gly715=) c.2130C= (p.Gly710=) c.2124C= (p.Gly708=) c.1101C= (p.Gly367=) c.1947C= (p.Gly649=) | |
| 1 | g.7827422C>G | CA416028149 | PER3 | c.2493C>G (p.Gly831=) c.2469C>G (p.Gly823=) c.2472C>G (p.Gly824=) c.1536C>G (p.Gly512=) c.2490C>G (p.Gly830=) c.1968C>G (p.Gly656=) c.2325C>G (p.Gly775=) c.2145C>G (p.Gly715=) c.2130C>G (p.Gly710=) c.2124C>G (p.Gly708=) c.1101C>G (p.Gly367=) c.1947C>G (p.Gly649=) | |
| 1 | g.7827422C>T | CA416028150 | PER3 | c.2493C>T (p.Gly831=) c.2469C>T (p.Gly823=) c.2472C>T (p.Gly824=) c.1536C>T (p.Gly512=) c.2490C>T (p.Gly830=) c.1968C>T (p.Gly656=) c.2325C>T (p.Gly775=) c.2145C>T (p.Gly715=) c.2130C>T (p.Gly710=) c.2124C>T (p.Gly708=) c.1101C>T (p.Gly367=) c.1947C>T (p.Gly649=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7827423C>A | CA338149080 | PER3 | c.2494C>A (p.Leu832Met) c.2470C>A (p.Leu824Met) c.2473C>A (p.Leu825Met) c.1537C>A (p.Leu513Met) c.2491C>A (p.Leu831Met) c.1969C>A (p.Leu657Met) c.2326C>A (p.Leu776Met) c.2146C>A (p.Leu716Met) c.2131C>A (p.Leu711Met) c.2125C>A (p.Leu709Met) c.1102C>A (p.Leu368Met) c.1948C>A (p.Leu650Met) | |
| 1 | g.7827423C= | CA1152110904 | PER3 | c.2494C= (p.Leu832=) c.2470C= (p.Leu824=) c.2473C= (p.Leu825=) c.1537C= (p.Leu513=) c.2491C= (p.Leu831=) c.1969C= (p.Leu657=) c.2326C= (p.Leu776=) c.2146C= (p.Leu716=) c.2131C= (p.Leu711=) c.2125C= (p.Leu709=) c.1102C= (p.Leu368=) c.1948C= (p.Leu650=) | |
| 1 | g.7827423C>G | CA338149081 | PER3 | c.2494C>G (p.Leu832Val) c.2470C>G (p.Leu824Val) c.2473C>G (p.Leu825Val) c.1537C>G (p.Leu513Val) c.2491C>G (p.Leu831Val) c.1969C>G (p.Leu657Val) c.2326C>G (p.Leu776Val) c.2146C>G (p.Leu716Val) c.2131C>G (p.Leu711Val) c.2125C>G (p.Leu709Val) c.1102C>G (p.Leu368Val) c.1948C>G (p.Leu650Val) | |
| 1 | g.7827423C>T | CA17265616 | PER3 | c.2494C>T (p.Leu832=) c.2470C>T (p.Leu824=) c.2473C>T (p.Leu825=) c.1537C>T (p.Leu513=) c.2491C>T (p.Leu831=) c.1969C>T (p.Leu657=) c.2326C>T (p.Leu776=) c.2146C>T (p.Leu716=) c.2131C>T (p.Leu711=) c.2125C>T (p.Leu709=) c.1102C>T (p.Leu368=) c.1948C>T (p.Leu650=) | dbSNP |
| 1 | g.7827424T>A | CA338149082 | PER3 | c.2495T>A (p.Leu832Gln) c.2471T>A (p.Leu824Gln) c.2474T>A (p.Leu825Gln) c.1538T>A (p.Leu513Gln) c.2492T>A (p.Leu831Gln) c.1970T>A (p.Leu657Gln) c.2327T>A (p.Leu776Gln) c.2147T>A (p.Leu716Gln) c.2132T>A (p.Leu711Gln) c.2126T>A (p.Leu709Gln) c.1103T>A (p.Leu368Gln) c.1949T>A (p.Leu650Gln) | |
| 1 | g.7827424T>C | CA338149083 | PER3 | c.2495T>C (p.Leu832Pro) c.2471T>C (p.Leu824Pro) c.2474T>C (p.Leu825Pro) c.1538T>C (p.Leu513Pro) c.2492T>C (p.Leu831Pro) c.1970T>C (p.Leu657Pro) c.2327T>C (p.Leu776Pro) c.2147T>C (p.Leu716Pro) c.2132T>C (p.Leu711Pro) c.2126T>C (p.Leu709Pro) c.1103T>C (p.Leu368Pro) c.1949T>C (p.Leu650Pro) | gnomAD v4 |
| 1 | g.7827424T>G | CA338149084 | PER3 | c.2495T>G (p.Leu832Arg) c.2471T>G (p.Leu824Arg) c.2474T>G (p.Leu825Arg) c.1538T>G (p.Leu513Arg) c.2492T>G (p.Leu831Arg) c.1970T>G (p.Leu657Arg) c.2327T>G (p.Leu776Arg) c.2147T>G (p.Leu716Arg) c.2132T>G (p.Leu711Arg) c.2126T>G (p.Leu709Arg) c.1103T>G (p.Leu368Arg) c.1949T>G (p.Leu650Arg) | gnomAD v4 |
| 1 | g.7827425G>A | CA416028151 | PER3 | c.2496G>A (p.Leu832=) c.2472G>A (p.Leu824=) c.2475G>A (p.Leu825=) c.1539G>A (p.Leu513=) c.2493G>A (p.Leu831=) c.1971G>A (p.Leu657=) c.2328G>A (p.Leu776=) c.2148G>A (p.Leu716=) c.2133G>A (p.Leu711=) c.2127G>A (p.Leu709=) c.1104G>A (p.Leu368=) c.1950G>A (p.Leu650=) | gnomAD v4 |
| 1 | g.7827425G>C | CA416028153 | PER3 | c.2496G>C (p.Leu832=) c.2472G>C (p.Leu824=) c.2475G>C (p.Leu825=) c.1539G>C (p.Leu513=) c.2493G>C (p.Leu831=) c.1971G>C (p.Leu657=) c.2328G>C (p.Leu776=) c.2148G>C (p.Leu716=) c.2133G>C (p.Leu711=) c.2127G>C (p.Leu709=) c.1104G>C (p.Leu368=) c.1950G>C (p.Leu650=) | |
| 1 | g.7827425G>T | CA416028152 | PER3 | c.2496G>T (p.Leu832=) c.2472G>T (p.Leu824=) c.2475G>T (p.Leu825=) c.1539G>T (p.Leu513=) c.2493G>T (p.Leu831=) c.1971G>T (p.Leu657=) c.2328G>T (p.Leu776=) c.2148G>T (p.Leu716=) c.2133G>T (p.Leu711=) c.2127G>T (p.Leu709=) c.1104G>T (p.Leu368=) c.1950G>T (p.Leu650=) | gnomAD v4 |
| 1 | g.7827426C>A | CA338149086 | PER3 | c.2497C>A (p.His833Asn) c.2473C>A (p.His825Asn) c.2476C>A (p.His826Asn) c.1540C>A (p.His514Asn) c.2494C>A (p.His832Asn) c.1972C>A (p.His658Asn) c.2329C>A (p.His777Asn) c.2149C>A (p.His717Asn) c.2134C>A (p.His712Asn) c.2128C>A (p.His710Asn) c.1105C>A (p.His369Asn) c.1951C>A (p.His651Asn) | |
| 1 | g.7827426C= | CA1152110907 | PER3 | c.2497C= (p.His833=) c.2473C= (p.His825=) c.2476C= (p.His826=) c.1540C= (p.His514=) c.2494C= (p.His832=) c.1972C= (p.His658=) c.2329C= (p.His777=) c.2149C= (p.His717=) c.2134C= (p.His712=) c.2128C= (p.His710=) c.1105C= (p.His369=) c.1951C= (p.His651=) | |
| 1 | g.7827426C>G | CA17265619 | PER3 | c.2497C>G (p.His833Asp) c.2473C>G (p.His825Asp) c.2476C>G (p.His826Asp) c.1540C>G (p.His514Asp) c.2494C>G (p.His832Asp) c.1972C>G (p.His658Asp) c.2329C>G (p.His777Asp) c.2149C>G (p.His717Asp) c.2134C>G (p.His712Asp) c.2128C>G (p.His710Asp) c.1105C>G (p.His369Asp) c.1951C>G (p.His651Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.7827426C>T | CA338149085 | PER3 | c.2497C>T (p.His833Tyr) c.2473C>T (p.His825Tyr) c.2476C>T (p.His826Tyr) c.1540C>T (p.His514Tyr) c.2494C>T (p.His832Tyr) c.1972C>T (p.His658Tyr) c.2329C>T (p.His777Tyr) c.2149C>T (p.His717Tyr) c.2134C>T (p.His712Tyr) c.2128C>T (p.His710Tyr) c.1105C>T (p.His369Tyr) c.1951C>T (p.His651Tyr) | dbSNP gnomAD v4 |
| 1 | g.7827427A= | CA1152110919 | PER3 | c.2498A= (p.His833=) c.2474A= (p.His825=) c.2477A= (p.His826=) c.1541A= (p.His514=) c.2495A= (p.His832=) c.1973A= (p.His658=) c.2330A= (p.His777=) c.2150A= (p.His717=) c.2135A= (p.His712=) c.2129A= (p.His710=) c.1106A= (p.His369=) c.1952A= (p.His651=) | |
| 1 | g.7827427A>C | CA338149087 | PER3 | c.2498A>C (p.His833Pro) c.2474A>C (p.His825Pro) c.2477A>C (p.His826Pro) c.1541A>C (p.His514Pro) c.2495A>C (p.His832Pro) c.1973A>C (p.His658Pro) c.2330A>C (p.His777Pro) c.2150A>C (p.His717Pro) c.2135A>C (p.His712Pro) c.2129A>C (p.His710Pro) c.1106A>C (p.His369Pro) c.1952A>C (p.His651Pro) | |
| 1 | g.7827427A>G | CA338149088 | PER3 | c.2498A>G (p.His833Arg) c.2474A>G (p.His825Arg) c.2477A>G (p.His826Arg) c.1541A>G (p.His514Arg) c.2495A>G (p.His832Arg) c.1973A>G (p.His658Arg) c.2330A>G (p.His777Arg) c.2150A>G (p.His717Arg) c.2135A>G (p.His712Arg) c.2129A>G (p.His710Arg) c.1106A>G (p.His369Arg) c.1952A>G (p.His651Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7827427A>T | CA338149089 | PER3 | c.2498A>T (p.His833Leu) c.2474A>T (p.His825Leu) c.2477A>T (p.His826Leu) c.1541A>T (p.His514Leu) c.2495A>T (p.His832Leu) c.1973A>T (p.His658Leu) c.2330A>T (p.His777Leu) c.2150A>T (p.His717Leu) c.2135A>T (p.His712Leu) c.2129A>T (p.His710Leu) c.1106A>T (p.His369Leu) c.1952A>T (p.His651Leu) | |
| 1 | g.7827427dup | CA739059492 | PER3 | c.2498dup (p.His833GlnfsTer30) c.2474dup (p.His825GlnfsTer30) c.2477dup (p.His826GlnfsTer30) c.1541dup (p.His514GlnfsTer30) c.2495dup (p.His832GlnfsTer30) c.1973dup (p.His658GlnfsTer30) c.2330dup (p.His777GlnfsTer30) c.2150dup (p.His717GlnfsTer30) c.2135dup (p.His712GlnfsTer30) c.2129dup (p.His710GlnfsTer30) c.1106dup (p.His369GlnfsTer30) c.1952dup (p.His651GlnfsTer30) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.7827428T>A | CA338149090 | PER3 | c.2499T>A (p.His833Gln) c.2475T>A (p.His825Gln) c.2478T>A (p.His826Gln) c.1542T>A (p.His514Gln) c.2496T>A (p.His832Gln) c.1974T>A (p.His658Gln) c.2331T>A (p.His777Gln) c.2151T>A (p.His717Gln) c.2136T>A (p.His712Gln) c.2130T>A (p.His710Gln) c.1107T>A (p.His369Gln) c.1953T>A (p.His651Gln) | dbSNP gnomAD v4 |
| 1 | g.7827428T>C | CA568422 | PER3 | c.2499T>C (p.His833=) c.2475T>C (p.His825=) c.2478T>C (p.His826=) c.1542T>C (p.His514=) c.2496T>C (p.His832=) c.1974T>C (p.His658=) c.2331T>C (p.His777=) c.2151T>C (p.His717=) c.2136T>C (p.His712=) c.2130T>C (p.His710=) c.1107T>C (p.His369=) c.1953T>C (p.His651=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.7827428T>G | CA338149091 | PER3 | c.2499T>G (p.His833Gln) c.2475T>G (p.His825Gln) c.2478T>G (p.His826Gln) c.1542T>G (p.His514Gln) c.2496T>G (p.His832Gln) c.1974T>G (p.His658Gln) c.2331T>G (p.His777Gln) c.2151T>G (p.His717Gln) c.2136T>G (p.His712Gln) c.2130T>G (p.His710Gln) c.1107T>G (p.His369Gln) c.1953T>G (p.His651Gln) | |
| 1 | g.7827428T= | CA1152110925 | PER3 | c.2499T= (p.His833=) c.2475T= (p.His825=) c.2478T= (p.His826=) c.1542T= (p.His514=) c.2496T= (p.His832=) c.1974T= (p.His658=) c.2331T= (p.His777=) c.2151T= (p.His717=) c.2136T= (p.His712=) c.2130T= (p.His710=) c.1107T= (p.His369=) c.1953T= (p.His651=) | |
| 1 | g.7827429G>A | CA338149093 | PER3 | c.2500G>A (p.Gly834Arg) c.2476G>A (p.Gly826Arg) c.2479G>A (p.Gly827Arg) c.1543G>A (p.Gly515Arg) c.2497G>A (p.Gly833Arg) c.1975G>A (p.Gly659Arg) c.2332G>A (p.Gly778Arg) c.2152G>A (p.Gly718Arg) c.2137G>A (p.Gly713Arg) c.2131G>A (p.Gly711Arg) c.1108G>A (p.Gly370Arg) c.1954G>A (p.Gly652Arg) | |
| 1 | g.7827429G>C | CA338149094 | PER3 | c.2500G>C (p.Gly834Arg) c.2476G>C (p.Gly826Arg) c.2479G>C (p.Gly827Arg) c.1543G>C (p.Gly515Arg) c.2497G>C (p.Gly833Arg) c.1975G>C (p.Gly659Arg) c.2332G>C (p.Gly778Arg) c.2152G>C (p.Gly718Arg) c.2137G>C (p.Gly713Arg) c.2131G>C (p.Gly711Arg) c.1108G>C (p.Gly370Arg) c.1954G>C (p.Gly652Arg) | |
| 1 | g.7827429G>T | CA338149092 | PER3 | c.2500G>T (p.Gly834Trp) c.2476G>T (p.Gly826Trp) c.2479G>T (p.Gly827Trp) c.1543G>T (p.Gly515Trp) c.2497G>T (p.Gly833Trp) c.1975G>T (p.Gly659Trp) c.2332G>T (p.Gly778Trp) c.2152G>T (p.Gly718Trp) c.2137G>T (p.Gly713Trp) c.2131G>T (p.Gly711Trp) c.1108G>T (p.Gly370Trp) c.1954G>T (p.Gly652Trp) | |
| 1 | g.7827431dup | CA1152110931 | PER3 | c.2502dup (p.Leu835AlafsTer28) c.2478dup (p.Leu827AlafsTer28) c.2481dup (p.Leu828AlafsTer28) c.1545dup (p.Leu516AlafsTer28) c.2499dup (p.Leu834AlafsTer28) c.1977dup (p.Leu660AlafsTer28) c.2334dup (p.Leu779AlafsTer28) c.2154dup (p.Leu719AlafsTer28) c.2139dup (p.Leu714AlafsTer28) c.2133dup (p.Leu712AlafsTer28) c.1110dup (p.Leu371AlafsTer28) c.1956dup (p.Leu653AlafsTer28) | dbSNP |
| 1 | g.7827430G>A | CA338149096 | PER3 | c.2501G>A (p.Gly834Glu) c.2477G>A (p.Gly826Glu) c.2480G>A (p.Gly827Glu) c.1544G>A (p.Gly515Glu) c.2498G>A (p.Gly833Glu) c.1976G>A (p.Gly659Glu) c.2333G>A (p.Gly778Glu) c.2153G>A (p.Gly718Glu) c.2138G>A (p.Gly713Glu) c.2132G>A (p.Gly711Glu) c.1109G>A (p.Gly370Glu) c.1955G>A (p.Gly652Glu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.7827430G>C | CA338149095 | PER3 | c.2501G>C (p.Gly834Ala) c.2477G>C (p.Gly826Ala) c.2480G>C (p.Gly827Ala) c.1544G>C (p.Gly515Ala) c.2498G>C (p.Gly833Ala) c.1976G>C (p.Gly659Ala) c.2333G>C (p.Gly778Ala) c.2153G>C (p.Gly718Ala) c.2138G>C (p.Gly713Ala) c.2132G>C (p.Gly711Ala) c.1109G>C (p.Gly370Ala) c.1955G>C (p.Gly652Ala) | |
| 1 | g.7827430G= | CA1152110936 | PER3 | c.2501G= (p.Gly834=) c.2477G= (p.Gly826=) c.2480G= (p.Gly827=) c.1544G= (p.Gly515=) c.2498G= (p.Gly833=) c.1976G= (p.Gly659=) c.2333G= (p.Gly778=) c.2153G= (p.Gly718=) c.2138G= (p.Gly713=) c.2132G= (p.Gly711=) c.1109G= (p.Gly370=) c.1955G= (p.Gly652=) | |
| 1 | g.7827430G>T | CA338149097 | PER3 | c.2501G>T (p.Gly834Val) c.2477G>T (p.Gly826Val) c.2480G>T (p.Gly827Val) c.1544G>T (p.Gly515Val) c.2498G>T (p.Gly833Val) c.1976G>T (p.Gly659Val) c.2333G>T (p.Gly778Val) c.2153G>T (p.Gly718Val) c.2138G>T (p.Gly713Val) c.2132G>T (p.Gly711Val) c.1109G>T (p.Gly370Val) c.1955G>T (p.Gly652Val) | |
| 1 | g.7827431G>A | CA416028154 | PER3 | c.2502G>A (p.Gly834=) c.2478G>A (p.Gly826=) c.2481G>A (p.Gly827=) c.1545G>A (p.Gly515=) c.2499G>A (p.Gly833=) c.1977G>A (p.Gly659=) c.2334G>A (p.Gly778=) c.2154G>A (p.Gly718=) c.2139G>A (p.Gly713=) c.2133G>A (p.Gly711=) c.1110G>A (p.Gly370=) c.1956G>A (p.Gly652=) | |
| 1 | g.7827431G>C | CA416028155 | PER3 | c.2502G>C (p.Gly834=) c.2478G>C (p.Gly826=) c.2481G>C (p.Gly827=) c.1545G>C (p.Gly515=) c.2499G>C (p.Gly833=) c.1977G>C (p.Gly659=) c.2334G>C (p.Gly778=) c.2154G>C (p.Gly718=) c.2139G>C (p.Gly713=) c.2133G>C (p.Gly711=) c.1110G>C (p.Gly370=) c.1956G>C (p.Gly652=) | |
| 1 | g.7827431G>T | CA416028156 | PER3 | c.2502G>T (p.Gly834=) c.2478G>T (p.Gly826=) c.2481G>T (p.Gly827=) c.1545G>T (p.Gly515=) c.2499G>T (p.Gly833=) c.1977G>T (p.Gly659=) c.2334G>T (p.Gly778=) c.2154G>T (p.Gly718=) c.2139G>T (p.Gly713=) c.2133G>T (p.Gly711=) c.1110G>T (p.Gly370=) c.1956G>T (p.Gly652=) | |
| 1 | g.7827432C>A | CA338149098 | PER3 | c.2503C>A (p.Leu835Met) c.2479C>A (p.Leu827Met) c.2482C>A (p.Leu828Met) c.1546C>A (p.Leu516Met) c.2500C>A (p.Leu834Met) c.1978C>A (p.Leu660Met) c.2335C>A (p.Leu779Met) c.2155C>A (p.Leu719Met) c.2140C>A (p.Leu714Met) c.2134C>A (p.Leu712Met) c.1111C>A (p.Leu371Met) c.1957C>A (p.Leu653Met) | |
| 1 | g.7827432C= | CA1152110943 | PER3 | c.2503C= (p.Leu835=) c.2479C= (p.Leu827=) c.2482C= (p.Leu828=) c.1546C= (p.Leu516=) c.2500C= (p.Leu834=) c.1978C= (p.Leu660=) c.2335C= (p.Leu779=) c.2155C= (p.Leu719=) c.2140C= (p.Leu714=) c.2134C= (p.Leu712=) c.1111C= (p.Leu371=) c.1957C= (p.Leu653=) | |
| 1 | g.7827432C>G | CA568423 | PER3 | c.2503C>G (p.Leu835Val) c.2479C>G (p.Leu827Val) c.2482C>G (p.Leu828Val) c.1546C>G (p.Leu516Val) c.2500C>G (p.Leu834Val) c.1978C>G (p.Leu660Val) c.2335C>G (p.Leu779Val) c.2155C>G (p.Leu719Val) c.2140C>G (p.Leu714Val) c.2134C>G (p.Leu712Val) c.1111C>G (p.Leu371Val) c.1957C>G (p.Leu653Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.7827432C>T | CA416028157 | PER3 | c.2503C>T (p.Leu835=) c.2479C>T (p.Leu827=) c.2482C>T (p.Leu828=) c.1546C>T (p.Leu516=) c.2500C>T (p.Leu834=) c.1978C>T (p.Leu660=) c.2335C>T (p.Leu779=) c.2155C>T (p.Leu719=) c.2140C>T (p.Leu714=) c.2134C>T (p.Leu712=) c.1111C>T (p.Leu371=) c.1957C>T (p.Leu653=) | |
| 1 | g.7827433T>A | CA338149099 | PER3 | c.2504T>A (p.Leu835Gln) c.2480T>A (p.Leu827Gln) c.2483T>A (p.Leu828Gln) c.1547T>A (p.Leu516Gln) c.2501T>A (p.Leu834Gln) c.1979T>A (p.Leu660Gln) c.2336T>A (p.Leu779Gln) c.2156T>A (p.Leu719Gln) c.2141T>A (p.Leu714Gln) c.2135T>A (p.Leu712Gln) c.1112T>A (p.Leu371Gln) c.1958T>A (p.Leu653Gln) | dbSNP gnomAD v4 |
| 1 | g.7827433T>C | CA568424 | PER3 | c.2504T>C (p.Leu835Pro) c.2480T>C (p.Leu827Pro) c.2483T>C (p.Leu828Pro) c.1547T>C (p.Leu516Pro) c.2501T>C (p.Leu834Pro) c.1979T>C (p.Leu660Pro) c.2336T>C (p.Leu779Pro) c.2156T>C (p.Leu719Pro) c.2141T>C (p.Leu714Pro) c.2135T>C (p.Leu712Pro) c.1112T>C (p.Leu371Pro) c.1958T>C (p.Leu653Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7827433T>G | CA338149100 | PER3 | c.2504T>G (p.Leu835Arg) c.2480T>G (p.Leu827Arg) c.2483T>G (p.Leu828Arg) c.1547T>G (p.Leu516Arg) c.2501T>G (p.Leu834Arg) c.1979T>G (p.Leu660Arg) c.2336T>G (p.Leu779Arg) c.2156T>G (p.Leu719Arg) c.2141T>G (p.Leu714Arg) c.2135T>G (p.Leu712Arg) c.1112T>G (p.Leu371Arg) c.1958T>G (p.Leu653Arg) | dbSNP gnomAD v4 |
| 1 | g.7827433T= | CA1139782649 | PER3 | c.2504T= (p.Leu835=) c.2480T= (p.Leu827=) c.2483T= (p.Leu828=) c.1547T= (p.Leu516=) c.2501T= (p.Leu834=) c.1979T= (p.Leu660=) c.2336T= (p.Leu779=) c.2156T= (p.Leu719=) c.2141T= (p.Leu714=) c.2135T= (p.Leu712=) c.1112T= (p.Leu371=) c.1958T= (p.Leu653=) |