| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.40396107T>A | CA405896687 | PRX | c.2245A>T (p.Lys749Ter) c.1828A>T (p.Lys610Ter) c.2530A>T (p.Lys844Ter) c.2120A>T c.2106A>T c.2207A>T c.2132A>T c.*2450A>T (n.*2450A>T) c.2143A>T (p.Lys715Ter) | |
| 19 | g.40396107T>C | CA9444102 | PRX | c.2245A>G (p.Lys749Glu) c.1828A>G (p.Lys610Glu) c.2530A>G (p.Lys844Glu) c.2120A>G c.2106A>G c.2207A>G c.2132A>G c.*2450A>G (n.*2450A>G) c.2143A>G (p.Lys715Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396107T>G | CA9444103 | PRX | c.2245A>C (p.Lys749Gln) c.1828A>C (p.Lys610Gln) c.2530A>C (p.Lys844Gln) c.2120A>C c.2106A>C c.2207A>C c.2132A>C c.*2450A>C (n.*2450A>C) c.2143A>C (p.Lys715Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396107T= | CA2335961467 | PRX | c.2245A= (p.Lys749=) c.1828A= (p.Lys610=) c.2530A= (p.Lys844=) c.2120A= c.2106A= c.2207A= c.2132A= c.*2450A= (n.*2450A=) c.2143A= (p.Lys715=) | |
| 19 | g.40396108C>A | CA507679300 | PRX | c.2244G>T (p.Pro748=) c.1827G>T (p.Pro609=) c.2529G>T (p.Pro843=) c.2119G>T c.2105G>T c.2206G>T c.2131G>T c.*2449G>T (n.*2449G>T) c.2142G>T (p.Pro714=) | |
| 19 | g.40396108C= | CA2335961468 | PRX | c.2244G= (p.Pro748=) c.1827G= (p.Pro609=) c.2529G= (p.Pro843=) c.2119G= c.2105G= c.2206G= c.2131G= c.*2449G= (n.*2449G=) c.2142G= (p.Pro714=) | |
| 19 | g.40396108C>G | CA507679301 | PRX | c.2244G>C (p.Pro748=) c.1827G>C (p.Pro609=) c.2529G>C (p.Pro843=) c.2119G>C c.2105G>C c.2206G>C c.2131G>C c.*2449G>C (n.*2449G>C) c.2142G>C (p.Pro714=) | |
| 19 | g.40396108C>T | CA9444104 | PRX | c.2244G>A (p.Pro748=) c.1827G>A (p.Pro609=) c.2529G>A (p.Pro843=) c.2119G>A c.2105G>A c.2206G>A c.2131G>A c.*2449G>A (n.*2449G>A) c.2142G>A (p.Pro714=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396109G>A | CA9444105 | PRX | c.2243C>T (p.Pro748Leu) c.1826C>T (p.Pro609Leu) c.2528C>T (p.Pro843Leu) c.2118C>T c.2104C>T c.2205C>T c.2130C>T c.*2448C>T (n.*2448C>T) c.2141C>T (p.Pro714Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396109G>C | CA405896688 | PRX | c.2243C>G (p.Pro748Arg) c.1826C>G (p.Pro609Arg) c.2528C>G (p.Pro843Arg) c.2118C>G c.2104C>G c.2205C>G c.2130C>G c.*2448C>G (n.*2448C>G) c.2141C>G (p.Pro714Arg) | ClinVar dbSNP gnomAD v4 |
| 19 | g.40396109G= | CA2335961469 | PRX | c.2243C= (p.Pro748=) c.1826C= (p.Pro609=) c.2528C= (p.Pro843=) c.2118C= c.2104C= c.2205C= c.2130C= c.*2448C= (n.*2448C=) c.2141C= (p.Pro714=) | |
| 19 | g.40396109G>T | CA405896689 | PRX | c.2243C>A (p.Pro748Gln) c.1826C>A (p.Pro609Gln) c.2528C>A (p.Pro843Gln) c.2118C>A c.2104C>A c.2205C>A c.2130C>A c.*2448C>A (n.*2448C>A) c.2141C>A (p.Pro714Gln) | |
| 19 | g.40396123_40396230del | CA995889216 | PRX | c.2136_2243del (p.Lys713_Pro748del) c.1719_1826del (p.Lys574_Pro609del) c.2421_2528del (p.Lys808_Pro843del) c.2011_2118del c.1997_2104del c.2098_2205del c.2023_2130del c.*2341_*2448del (n.*2341_*2448del) c.2034_2141del (p.Lys679_Pro714del) | gnomAD v3 gnomAD v4 |
| 19 | g.40396110G>A | CA405896690 | PRX | c.2242C>T (p.Pro748Ser) c.1825C>T (p.Pro609Ser) c.2527C>T (p.Pro843Ser) c.2117C>T c.2103C>T c.2204C>T c.2129C>T c.*2447C>T (n.*2447C>T) c.2140C>T (p.Pro714Ser) | COSMIC |
| 19 | g.40396110G>C | CA405896691 | PRX | c.2242C>G (p.Pro748Ala) c.1825C>G (p.Pro609Ala) c.2527C>G (p.Pro843Ala) c.2117C>G c.2103C>G c.2204C>G c.2129C>G c.*2447C>G (n.*2447C>G) c.2140C>G (p.Pro714Ala) | |
| 19 | g.40396110G>T | CA405896692 | PRX | c.2242C>A (p.Pro748Thr) c.1825C>A (p.Pro609Thr) c.2527C>A (p.Pro843Thr) c.2117C>A c.2103C>A c.2204C>A c.2129C>A c.*2447C>A (n.*2447C>A) c.2140C>A (p.Pro714Thr) | |
| 19 | g.40396111C>A | CA507679302 | PRX | c.2241G>T (p.Leu747=) c.1824G>T (p.Leu608=) c.2526G>T (p.Leu842=) c.2116G>T c.2102G>T c.2203G>T c.2128G>T c.*2446G>T (n.*2446G>T) c.2139G>T (p.Leu713=) | |
| 19 | g.40396111C>G | CA507679303 | PRX | c.2241G>C (p.Leu747=) c.1824G>C (p.Leu608=) c.2526G>C (p.Leu842=) c.2116G>C c.2102G>C c.2203G>C c.2128G>C c.*2446G>C (n.*2446G>C) c.2139G>C (p.Leu713=) | gnomAD v3 gnomAD v4 |
| 19 | g.40396111C>T | CA507679305 | PRX | c.2241G>A (p.Leu747=) c.1824G>A (p.Leu608=) c.2526G>A (p.Leu842=) c.2116G>A c.2102G>A c.2203G>A c.2128G>A c.*2446G>A (n.*2446G>A) c.2139G>A (p.Leu713=) | |
| 19 | g.40396112A>C | CA405896693 | PRX | c.2240T>G (p.Leu747Arg) c.1823T>G (p.Leu608Arg) c.2525T>G (p.Leu842Arg) c.2115T>G c.2101T>G c.2202T>G c.2127T>G c.*2445T>G (n.*2445T>G) c.2138T>G (p.Leu713Arg) | |
| 19 | g.40396112A>G | CA405896694 | PRX | c.2240T>C (p.Leu747Pro) c.1823T>C (p.Leu608Pro) c.2525T>C (p.Leu842Pro) c.2115T>C c.2101T>C c.2202T>C c.2127T>C c.*2445T>C (n.*2445T>C) c.2138T>C (p.Leu713Pro) | |
| 19 | g.40396112A>T | CA405896695 | PRX | c.2240T>A (p.Leu747Gln) c.1823T>A (p.Leu608Gln) c.2525T>A (p.Leu842Gln) c.2115T>A c.2101T>A c.2202T>A c.2127T>A c.*2445T>A (n.*2445T>A) c.2138T>A (p.Leu713Gln) | |
| 19 | g.40396113G>A | CA507679306 | PRX | c.2239C>T (p.Leu747=) c.1822C>T (p.Leu608=) c.2524C>T (p.Leu842=) c.2114C>T c.2100C>T c.2201C>T c.2126C>T c.*2444C>T (n.*2444C>T) c.2137C>T (p.Leu713=) | |
| 19 | g.40396113G>C | CA405896696 | PRX | c.2239C>G (p.Leu747Val) c.1822C>G (p.Leu608Val) c.2524C>G (p.Leu842Val) c.2114C>G c.2100C>G c.2201C>G c.2126C>G c.*2444C>G (n.*2444C>G) c.2137C>G (p.Leu713Val) | |
| 19 | g.40396113G>T | CA405896697 | PRX | c.2239C>A (p.Leu747Met) c.1822C>A (p.Leu608Met) c.2524C>A (p.Leu842Met) c.2114C>A c.2100C>A c.2201C>A c.2126C>A c.*2444C>A (n.*2444C>A) c.2137C>A (p.Leu713Met) | |
| 19 | g.40396114C>A | CA405896699 | PRX | c.2238G>T (p.Gln746His) c.1821G>T (p.Gln607His) c.2523G>T (p.Gln841His) c.2113G>T c.2099G>T c.2200G>T c.2125G>T c.*2443G>T (n.*2443G>T) c.2136G>T (p.Gln712His) | |
| 19 | g.40396114C>G | CA405896698 | PRX | c.2238G>C (p.Gln746His) c.1821G>C (p.Gln607His) c.2523G>C (p.Gln841His) c.2113G>C c.2099G>C c.2200G>C c.2125G>C c.*2443G>C (n.*2443G>C) c.2136G>C (p.Gln712His) | dbSNP |
| 19 | g.40396114C>T | CA507679307 | PRX | c.2238G>A (p.Gln746=) c.1821G>A (p.Gln607=) c.2523G>A (p.Gln841=) c.2113G>A c.2099G>A c.2200G>A c.2125G>A c.*2443G>A (n.*2443G>A) c.2136G>A (p.Gln712=) | |
| 19 | g.40396115T>A | CA405896700 | PRX | c.2237A>T (p.Gln746Leu) c.1820A>T (p.Gln607Leu) c.2522A>T (p.Gln841Leu) c.2112A>T c.2098A>T c.2199A>T c.2124A>T c.*2442A>T (n.*2442A>T) c.2135A>T (p.Gln712Leu) | |
| 19 | g.40396115T>C | CA405896702 | PRX | c.2237A>G (p.Gln746Arg) c.1820A>G (p.Gln607Arg) c.2522A>G (p.Gln841Arg) c.2112A>G c.2098A>G c.2199A>G c.2124A>G c.*2442A>G (n.*2442A>G) c.2135A>G (p.Gln712Arg) | |
| 19 | g.40396115T>G | CA405896701 | PRX | c.2237A>C (p.Gln746Pro) c.1820A>C (p.Gln607Pro) c.2522A>C (p.Gln841Pro) c.2112A>C c.2098A>C c.2199A>C c.2124A>C c.*2442A>C (n.*2442A>C) c.2135A>C (p.Gln712Pro) | gnomAD v4 |
| 19 | g.40396116G>A | CA405896703 | PRX | c.2236C>T (p.Gln746Ter) c.1819C>T (p.Gln607Ter) c.2521C>T (p.Gln841Ter) c.2111C>T c.2097C>T c.2198C>T c.2123C>T c.*2441C>T (n.*2441C>T) c.2134C>T (p.Gln712Ter) | |
| 19 | g.40396116G>C | CA405896704 | PRX | c.2236C>G (p.Gln746Glu) c.1819C>G (p.Gln607Glu) c.2521C>G (p.Gln841Glu) c.2111C>G c.2097C>G c.2198C>G c.2123C>G c.*2441C>G (n.*2441C>G) c.2134C>G (p.Gln712Glu) | |
| 19 | g.40396116G>T | CA405896705 | PRX | c.2236C>A (p.Gln746Lys) c.1819C>A (p.Gln607Lys) c.2521C>A (p.Gln841Lys) c.2111C>A c.2097C>A c.2198C>A c.2123C>A c.*2441C>A (n.*2441C>A) c.2134C>A (p.Gln712Lys) | |
| 19 | g.40396117C>A | CA507679308 | PRX | c.2235G>T (p.Val745=) c.1818G>T (p.Val606=) c.2520G>T (p.Val840=) c.2110G>T c.2096G>T c.2197G>T c.2122G>T c.*2440G>T (n.*2440G>T) c.2133G>T (p.Val711=) | |
| 19 | g.40396117C= | CA2335961470 | PRX | c.2235G= (p.Val745=) c.1818G= (p.Val606=) c.2520G= (p.Val840=) c.2110G= c.2096G= c.2197G= c.2122G= c.*2440G= (n.*2440G=) c.2133G= (p.Val711=) | |
| 19 | g.40396117C>G | CA507679309 | PRX | c.2235G>C (p.Val745=) c.1818G>C (p.Val606=) c.2520G>C (p.Val840=) c.2110G>C c.2096G>C c.2197G>C c.2122G>C c.*2440G>C (n.*2440G>C) c.2133G>C (p.Val711=) | |
| 19 | g.40396117C>T | CA9444106 | PRX | c.2235G>A (p.Val745=) c.1818G>A (p.Val606=) c.2520G>A (p.Val840=) c.2110G>A c.2096G>A c.2197G>A c.2122G>A c.*2440G>A (n.*2440G>A) c.2133G>A (p.Val711=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40396118_40396119del | CA2585127080 | PRX | c.2234_2235del (p.Val745AlafsTer?) c.1817_1818del (p.Val606AlafsTer?) c.2519_2520del (p.Val840AlafsTer?) c.2109_2110del c.2095_2096del c.2196_2197del c.2121_2122del c.*2439_*2440del (n.*2439_*2440del) c.2132_2133del (p.Val711AlafsTer?) | gnomAD v4 |
| 19 | g.40396118A>C | CA405896706 | PRX | c.2234T>G (p.Val745Gly) c.1817T>G (p.Val606Gly) c.2519T>G (p.Val840Gly) c.2109T>G c.2095T>G c.2196T>G c.2121T>G c.*2439T>G (n.*2439T>G) c.2132T>G (p.Val711Gly) | |
| 19 | g.40396118A>G | CA405896707 | PRX | c.2234T>C (p.Val745Ala) c.1817T>C (p.Val606Ala) c.2519T>C (p.Val840Ala) c.2109T>C c.2095T>C c.2196T>C c.2121T>C c.*2439T>C (n.*2439T>C) c.2132T>C (p.Val711Ala) | |
| 19 | g.40396118A>T | CA405896708 | PRX | c.2234T>A (p.Val745Glu) c.1817T>A (p.Val606Glu) c.2519T>A (p.Val840Glu) c.2109T>A c.2095T>A c.2196T>A c.2121T>A c.*2439T>A (n.*2439T>A) c.2132T>A (p.Val711Glu) | |
| 19 | g.40396119C>A | CA405896709 | PRX | c.2233G>T (p.Val745Leu) c.1816G>T (p.Val606Leu) c.2518G>T (p.Val840Leu) c.2108G>T c.2094G>T c.2195G>T c.2120G>T c.*2438G>T (n.*2438G>T) c.2131G>T (p.Val711Leu) | |
| 19 | g.40396119C= | CA2335961471 | PRX | c.2233G= (p.Val745=) c.1816G= (p.Val606=) c.2518G= (p.Val840=) c.2108G= c.2094G= c.2195G= c.2120G= c.*2438G= (n.*2438G=) c.2131G= (p.Val711=) | |
| 19 | g.40396119C>G | CA405896710 | PRX | c.2233G>C (p.Val745Leu) c.1816G>C (p.Val606Leu) c.2518G>C (p.Val840Leu) c.2108G>C c.2094G>C c.2195G>C c.2120G>C c.*2438G>C (n.*2438G>C) c.2131G>C (p.Val711Leu) | |
| 19 | g.40396119C>T | CA405896711 | PRX | c.2233G>A (p.Val745Met) c.1816G>A (p.Val606Met) c.2518G>A (p.Val840Met) c.2108G>A c.2094G>A c.2195G>A c.2120G>A c.*2438G>A (n.*2438G>A) c.2131G>A (p.Val711Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396120del | CA2582157878 | PRX | c.2233del (p.Val745CysfsTer30) c.1816del (p.Val606CysfsTer30) c.2518del (p.Val840CysfsTer30) c.2108del c.2094del c.2195del c.2120del c.*2438del (n.*2438del) c.2131del (p.Val711CysfsTer30) | gnomAD v3 gnomAD v4 |
| 19 | g.40396120C>A | CA405896712 | PRX | c.2232G>T (p.Glu744Asp) c.1815G>T (p.Glu605Asp) c.2517G>T (p.Glu839Asp) c.2107G>T c.2093G>T c.2194G>T c.2119G>T c.*2437G>T (n.*2437G>T) c.2130G>T (p.Glu710Asp) | |
| 19 | g.40396120C>G | CA405896713 | PRX | c.2232G>C (p.Glu744Asp) c.1815G>C (p.Glu605Asp) c.2517G>C (p.Glu839Asp) c.2107G>C c.2093G>C c.2194G>C c.2119G>C c.*2437G>C (n.*2437G>C) c.2130G>C (p.Glu710Asp) | |
| 19 | g.40396120C>T | CA507679310 | PRX | c.2232G>A (p.Glu744=) c.1815G>A (p.Glu605=) c.2517G>A (p.Glu839=) c.2107G>A c.2093G>A c.2194G>A c.2119G>A c.*2437G>A (n.*2437G>A) c.2130G>A (p.Glu710=) | gnomAD v3 gnomAD v4 |