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 |
|---|---|---|---|---|---|
| 19 | g.40396029T>A | CA405896535 | PRX | c.2323A>T (p.Lys775Ter) c.1906A>T (p.Lys636Ter) c.2608A>T (p.Lys870Ter) c.2198A>T c.2184A>T c.2285A>T c.2210A>T c.*2528A>T (n.*2528A>T) c.2221A>T (p.Lys741Ter) | |
| 19 | g.40396029T>C | CA405896536 | PRX | c.2323A>G (p.Lys775Glu) c.1906A>G (p.Lys636Glu) c.2608A>G (p.Lys870Glu) c.2198A>G c.2184A>G c.2285A>G c.2210A>G c.*2528A>G (n.*2528A>G) c.2221A>G (p.Lys741Glu) | |
| 19 | g.40396029T>G | CA405896537 | PRX | c.2323A>C (p.Lys775Gln) c.1906A>C (p.Lys636Gln) c.2608A>C (p.Lys870Gln) c.2198A>C c.2184A>C c.2285A>C c.2210A>C c.*2528A>C (n.*2528A>C) c.2221A>C (p.Lys741Gln) | |
| 19 | g.40396030C>A | CA507679429 | PRX | c.2322G>T (p.Val774=) c.1905G>T (p.Val635=) c.2607G>T (p.Val869=) c.2197G>T c.2183G>T c.2284G>T c.2209G>T c.*2527G>T (n.*2527G>T) c.2220G>T (p.Val740=) | |
| 19 | g.40396030C= | CA2335961420 | PRX | c.2322G= (p.Val774=) c.1905G= (p.Val635=) c.2607G= (p.Val869=) c.2197G= c.2183G= c.2284G= c.2209G= c.*2527G= (n.*2527G=) c.2220G= (p.Val740=) | |
| 19 | g.40396030C>G | CA507679428 | PRX | c.2322G>C (p.Val774=) c.1905G>C (p.Val635=) c.2607G>C (p.Val869=) c.2197G>C c.2183G>C c.2284G>C c.2209G>C c.*2527G>C (n.*2527G>C) c.2220G>C (p.Val740=) | |
| 19 | g.40396030C>T | CA507679427 | PRX | c.2322G>A (p.Val774=) c.1905G>A (p.Val635=) c.2607G>A (p.Val869=) c.2197G>A c.2183G>A c.2284G>A c.2209G>A c.*2527G>A (n.*2527G>A) c.2220G>A (p.Val740=) | |
| 19 | g.40396030_40396031insG | CA633466295 | PRX | c.2321_2322insC (p.Lys775GlufsTer?) c.1904_1905insC (p.Lys636GlufsTer?) c.2606_2607insC (p.Lys870GlufsTer?) c.2196_2197insC c.2182_2183insC c.2283_2284insC c.2208_2209insC c.*2526_*2527insC (n.*2526_*2527insC) c.2219_2220insC (p.Lys741GlufsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40396031A= | CA2335961421 | PRX | c.2321T= (p.Val774=) c.1904T= (p.Val635=) c.2606T= (p.Val869=) c.2196T= c.2182T= c.2283T= c.2208T= c.*2526T= (n.*2526T=) c.2219T= (p.Val740=) | |
| 19 | g.40396031A>C | CA405896538 | PRX | c.2321T>G (p.Val774Gly) c.1904T>G (p.Val635Gly) c.2606T>G (p.Val869Gly) c.2196T>G c.2182T>G c.2283T>G c.2208T>G c.*2526T>G (n.*2526T>G) c.2219T>G (p.Val740Gly) | dbSNP |
| 19 | g.40396031A>G | CA405896539 | PRX | c.2321T>C (p.Val774Ala) c.1904T>C (p.Val635Ala) c.2606T>C (p.Val869Ala) c.2196T>C c.2182T>C c.2283T>C c.2208T>C c.*2526T>C (n.*2526T>C) c.2219T>C (p.Val740Ala) | |
| 19 | g.40396031A>T | CA405896540 | PRX | c.2321T>A (p.Val774Glu) c.1904T>A (p.Val635Glu) c.2606T>A (p.Val869Glu) c.2196T>A c.2182T>A c.2283T>A c.2208T>A c.*2526T>A (n.*2526T>A) c.2219T>A (p.Val740Glu) | |
| 19 | g.40396032C>A | CA9444072 | PRX | c.2320G>T (p.Val774Leu) c.1903G>T (p.Val635Leu) c.2605G>T (p.Val869Leu) c.2195G>T c.2181G>T c.2282G>T c.2207G>T c.*2525G>T (n.*2525G>T) c.2218G>T (p.Val740Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396032C= | CA2335961422 | PRX | c.2320G= (p.Val774=) c.1903G= (p.Val635=) c.2605G= (p.Val869=) c.2195G= c.2181G= c.2282G= c.2207G= c.*2525G= (n.*2525G=) c.2218G= (p.Val740=) | |
| 19 | g.40396032C>G | CA405896541 | PRX | c.2320G>C (p.Val774Leu) c.1903G>C (p.Val635Leu) c.2605G>C (p.Val869Leu) c.2195G>C c.2181G>C c.2282G>C c.2207G>C c.*2525G>C (n.*2525G>C) c.2218G>C (p.Val740Leu) | |
| 19 | g.40396032C>T | CA405896542 | PRX | c.2320G>A (p.Val774Met) c.1903G>A (p.Val635Met) c.2605G>A (p.Val869Met) c.2195G>A c.2181G>A c.2282G>A c.2207G>A c.*2525G>A (n.*2525G>A) c.2218G>A (p.Val740Met) | gnomAD v4 |
| 19 | g.40396035_40396043del | CA2585127079 | PRX | c.2312_2320del (p.Ala771_Glu773del) c.1895_1903del (p.Ala632_Glu634del) c.2597_2605del (p.Ala866_Glu868del) c.2187_2195del c.2173_2181del c.2274_2282del c.2199_2207del c.*2517_*2525del (n.*2517_*2525del) c.2210_2218del (p.Ala737_Glu739del) | gnomAD v4 |
| 19 | g.40396033C>A | CA405896544 | PRX | c.2319G>T (p.Glu773Asp) c.1902G>T (p.Glu634Asp) c.2604G>T (p.Glu868Asp) c.2194G>T c.2180G>T c.2281G>T c.2206G>T c.*2524G>T (n.*2524G>T) c.2217G>T (p.Glu739Asp) | |
| 19 | g.40396033C>G | CA405896543 | PRX | c.2319G>C (p.Glu773Asp) c.1902G>C (p.Glu634Asp) c.2604G>C (p.Glu868Asp) c.2194G>C c.2180G>C c.2281G>C c.2206G>C c.*2524G>C (n.*2524G>C) c.2217G>C (p.Glu739Asp) | COSMIC |
| 19 | g.40396033C>T | CA507679437 | PRX | c.2319G>A (p.Glu773=) c.1902G>A (p.Glu634=) c.2604G>A (p.Glu868=) c.2194G>A c.2180G>A c.2281G>A c.2206G>A c.*2524G>A (n.*2524G>A) c.2217G>A (p.Glu739=) | |
| 19 | g.40396034T>A | CA405896545 | PRX | c.2318A>T (p.Glu773Val) c.1901A>T (p.Glu634Val) c.2603A>T (p.Glu868Val) c.2193A>T c.2179A>T c.2280A>T c.2205A>T c.*2523A>T (n.*2523A>T) c.2216A>T (p.Glu739Val) | |
| 19 | g.40396034T>C | CA405896546 | PRX | c.2318A>G (p.Glu773Gly) c.1901A>G (p.Glu634Gly) c.2603A>G (p.Glu868Gly) c.2193A>G c.2179A>G c.2280A>G c.2205A>G c.*2523A>G (n.*2523A>G) c.2216A>G (p.Glu739Gly) | dbSNP gnomAD v4 |
| 19 | g.40396034T>G | CA9444073 | PRX | c.2318A>C (p.Glu773Ala) c.1901A>C (p.Glu634Ala) c.2603A>C (p.Glu868Ala) c.2193A>C c.2179A>C c.2280A>C c.2205A>C c.*2523A>C (n.*2523A>C) c.2216A>C (p.Glu739Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40396034T= | CA2335961423 | PRX | c.2318A= (p.Glu773=) c.1901A= (p.Glu634=) c.2603A= (p.Glu868=) c.2193A= c.2179A= c.2280A= c.2205A= c.*2523A= (n.*2523A=) c.2216A= (p.Glu739=) | |
| 19 | g.40396035C>A | CA405896547 | PRX | c.2317G>T (p.Glu773Ter) c.1900G>T (p.Glu634Ter) c.2602G>T (p.Glu868Ter) c.2192G>T c.2178G>T c.2279G>T c.2204G>T c.*2522G>T (n.*2522G>T) c.2215G>T (p.Glu739Ter) | |
| 19 | g.40396035C= | CA2335961424 | PRX | c.2317G= (p.Glu773=) c.1900G= (p.Glu634=) c.2602G= (p.Glu868=) c.2192G= c.2178G= c.2279G= c.2204G= c.*2522G= (n.*2522G=) c.2215G= (p.Glu739=) | |
| 19 | g.40396035C>G | CA405896549 | PRX | c.2317G>C (p.Glu773Gln) c.1900G>C (p.Glu634Gln) c.2602G>C (p.Glu868Gln) c.2192G>C c.2178G>C c.2279G>C c.2204G>C c.*2522G>C (n.*2522G>C) c.2215G>C (p.Glu739Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.40396035C>T | CA405896548 | PRX | c.2317G>A (p.Glu773Lys) c.1900G>A (p.Glu634Lys) c.2602G>A (p.Glu868Lys) c.2192G>A c.2178G>A c.2279G>A c.2204G>A c.*2522G>A (n.*2522G>A) c.2215G>A (p.Glu739Lys) | |
| 19 | g.40396036T>A | CA507679442 | PRX | c.2316A>T (p.Pro772=) c.1899A>T (p.Pro633=) c.2601A>T (p.Pro867=) c.2191A>T c.2177A>T c.2278A>T c.2203A>T c.*2521A>T (n.*2521A>T) c.2214A>T (p.Pro738=) | |
| 19 | g.40396036T>C | CA507679439 | PRX | c.2316A>G (p.Pro772=) c.1899A>G (p.Pro633=) c.2601A>G (p.Pro867=) c.2191A>G c.2177A>G c.2278A>G c.2203A>G c.*2521A>G (n.*2521A>G) c.2214A>G (p.Pro738=) | |
| 19 | g.40396036T>G | CA9444074 | PRX | c.2316A>C (p.Pro772=) c.1899A>C (p.Pro633=) c.2601A>C (p.Pro867=) c.2191A>C c.2177A>C c.2278A>C c.2203A>C c.*2521A>C (n.*2521A>C) c.2214A>C (p.Pro738=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396036T= | CA2335961425 | PRX | c.2316A= (p.Pro772=) c.1899A= (p.Pro633=) c.2601A= (p.Pro867=) c.2191A= c.2177A= c.2278A= c.2203A= c.*2521A= (n.*2521A=) c.2214A= (p.Pro738=) | |
| 19 | g.40396037G>A | CA405896552 | PRX | c.2315C>T (p.Pro772Leu) c.1898C>T (p.Pro633Leu) c.2600C>T (p.Pro867Leu) c.2190C>T c.2176C>T c.2277C>T c.2202C>T c.*2520C>T (n.*2520C>T) c.2213C>T (p.Pro738Leu) | |
| 19 | g.40396037G>C | CA405896550 | PRX | c.2315C>G (p.Pro772Arg) c.1898C>G (p.Pro633Arg) c.2600C>G (p.Pro867Arg) c.2190C>G c.2176C>G c.2277C>G c.2202C>G c.*2520C>G (n.*2520C>G) c.2213C>G (p.Pro738Arg) | |
| 19 | g.40396037G>T | CA405896551 | PRX | c.2315C>A (p.Pro772Gln) c.1898C>A (p.Pro633Gln) c.2600C>A (p.Pro867Gln) c.2190C>A c.2176C>A c.2277C>A c.2202C>A c.*2520C>A (n.*2520C>A) c.2213C>A (p.Pro738Gln) | |
| 19 | g.40396038G>A | CA405896553 | PRX | c.2314C>T (p.Pro772Ser) c.1897C>T (p.Pro633Ser) c.2599C>T (p.Pro867Ser) c.2189C>T c.2175C>T c.2276C>T c.2201C>T c.*2519C>T (n.*2519C>T) c.2212C>T (p.Pro738Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40396038G>C | CA405896554 | PRX | c.2314C>G (p.Pro772Ala) c.1897C>G (p.Pro633Ala) c.2599C>G (p.Pro867Ala) c.2189C>G c.2175C>G c.2276C>G c.2201C>G c.*2519C>G (n.*2519C>G) c.2212C>G (p.Pro738Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40396038G= | CA2335961426 | PRX | c.2314C= (p.Pro772=) c.1897C= (p.Pro633=) c.2599C= (p.Pro867=) c.2189C= c.2175C= c.2276C= c.2201C= c.*2519C= (n.*2519C=) c.2212C= (p.Pro738=) | |
| 19 | g.40396038G>T | CA405896555 | PRX | c.2314C>A (p.Pro772Thr) c.1897C>A (p.Pro633Thr) c.2599C>A (p.Pro867Thr) c.2189C>A c.2175C>A c.2276C>A c.2201C>A c.*2519C>A (n.*2519C>A) c.2212C>A (p.Pro738Thr) | |
| 19 | g.40396039T>A | CA507679448 | PRX | c.2313A>T (p.Ala771=) c.1896A>T (p.Ala632=) c.2598A>T (p.Ala866=) c.2188A>T c.2174A>T c.2275A>T c.2200A>T c.*2518A>T (n.*2518A>T) c.2211A>T (p.Ala737=) | |
| 19 | g.40396039T>C | CA507679450 | PRX | c.2313A>G (p.Ala771=) c.1896A>G (p.Ala632=) c.2598A>G (p.Ala866=) c.2188A>G c.2174A>G c.2275A>G c.2200A>G c.*2518A>G (n.*2518A>G) c.2211A>G (p.Ala737=) | gnomAD v4 |
| 19 | g.40396039T>G | CA507679451 | PRX | c.2313A>C (p.Ala771=) c.1896A>C (p.Ala632=) c.2598A>C (p.Ala866=) c.2188A>C c.2174A>C c.2275A>C c.2200A>C c.*2518A>C (n.*2518A>C) c.2211A>C (p.Ala737=) | |
| 19 | g.40396040G>A | CA405896556 | PRX | c.2312C>T (p.Ala771Val) c.1895C>T (p.Ala632Val) c.2597C>T (p.Ala866Val) c.2187C>T c.2173C>T c.2274C>T c.2199C>T c.*2517C>T (n.*2517C>T) c.2210C>T (p.Ala737Val) | ClinVar dbSNP |
| 19 | g.40396040G>C | CA405896557 | PRX | c.2312C>G (p.Ala771Gly) c.1895C>G (p.Ala632Gly) c.2597C>G (p.Ala866Gly) c.2187C>G c.2173C>G c.2274C>G c.2199C>G c.*2517C>G (n.*2517C>G) c.2210C>G (p.Ala737Gly) | |
| 19 | g.40396040G= | CA2335961427 | PRX | c.2312C= (p.Ala771=) c.1895C= (p.Ala632=) c.2597C= (p.Ala866=) c.2187C= c.2173C= c.2274C= c.2199C= c.*2517C= (n.*2517C=) c.2210C= (p.Ala737=) | |
| 19 | g.40396040G>T | CA405896558 | PRX | c.2312C>A (p.Ala771Glu) c.1895C>A (p.Ala632Glu) c.2597C>A (p.Ala866Glu) c.2187C>A c.2173C>A c.2274C>A c.2199C>A c.*2517C>A (n.*2517C>A) c.2210C>A (p.Ala737Glu) | |
| 19 | g.40396041C>A | CA405896559 | PRX | c.2311G>T (p.Ala771Ser) c.1894G>T (p.Ala632Ser) c.2596G>T (p.Ala866Ser) c.2186G>T c.2172G>T c.2273G>T c.2198G>T c.*2516G>T (n.*2516G>T) c.2209G>T (p.Ala737Ser) | |
| 19 | g.40396041C= | CA2335961428 | PRX | c.2311G= (p.Ala771=) c.1894G= (p.Ala632=) c.2596G= (p.Ala866=) c.2186G= c.2172G= c.2273G= c.2198G= c.*2516G= (n.*2516G=) c.2209G= (p.Ala737=) | |
| 19 | g.40396041C>G | CA405896560 | PRX | c.2311G>C (p.Ala771Pro) c.1894G>C (p.Ala632Pro) c.2596G>C (p.Ala866Pro) c.2186G>C c.2172G>C c.2273G>C c.2198G>C c.*2516G>C (n.*2516G>C) c.2209G>C (p.Ala737Pro) | ClinVar dbSNP |
| 19 | g.40396041C>T | CA405896561 | PRX | c.2311G>A (p.Ala771Thr) c.1894G>A (p.Ala632Thr) c.2596G>A (p.Ala866Thr) c.2186G>A c.2172G>A c.2273G>A c.2198G>A c.*2516G>A (n.*2516G>A) c.2209G>A (p.Ala737Thr) | |
| 19 | g.40396042C>A | CA405896562 | PRX | c.2310G>T (p.Lys770Asn) c.1893G>T (p.Lys631Asn) c.2595G>T (p.Lys865Asn) c.2185G>T c.2171G>T c.2272G>T c.2197G>T c.*2515G>T (n.*2515G>T) c.2208G>T (p.Lys736Asn) | |
| 19 | g.40396042C>G | CA405896563 | PRX | c.2310G>C (p.Lys770Asn) c.1893G>C (p.Lys631Asn) c.2595G>C (p.Lys865Asn) c.2185G>C c.2171G>C c.2272G>C c.2197G>C c.*2515G>C (n.*2515G>C) c.2208G>C (p.Lys736Asn) | |
| 19 | g.40396042C>T | CA507679455 | PRX | c.2310G>A (p.Lys770=) c.1893G>A (p.Lys631=) c.2595G>A (p.Lys865=) c.2185G>A c.2171G>A c.2272G>A c.2197G>A c.*2515G>A (n.*2515G>A) c.2208G>A (p.Lys736=) | |
| 19 | g.40396043T>A | CA405896566 | PRX | c.2309A>T (p.Lys770Met) c.1892A>T (p.Lys631Met) c.2594A>T (p.Lys865Met) c.2184A>T c.2170A>T c.2271A>T c.2196A>T c.*2514A>T (n.*2514A>T) c.2207A>T (p.Lys736Met) | |
| 19 | g.40396043T>C | CA405896565 | PRX | c.2309A>G (p.Lys770Arg) c.1892A>G (p.Lys631Arg) c.2594A>G (p.Lys865Arg) c.2184A>G c.2170A>G c.2271A>G c.2196A>G c.*2514A>G (n.*2514A>G) c.2207A>G (p.Lys736Arg) | |
| 19 | g.40396043T>G | CA405896564 | PRX | c.2309A>C (p.Lys770Thr) c.1892A>C (p.Lys631Thr) c.2594A>C (p.Lys865Thr) c.2184A>C c.2170A>C c.2271A>C c.2196A>C c.*2514A>C (n.*2514A>C) c.2207A>C (p.Lys736Thr) | |
| 19 | g.40396044T>A | CA405896567 | PRX | c.2308A>T (p.Lys770Ter) c.1891A>T (p.Lys631Ter) c.2593A>T (p.Lys865Ter) c.2183A>T c.2169A>T c.2270A>T c.2195A>T c.*2513A>T (n.*2513A>T) c.2206A>T (p.Lys736Ter) | |
| 19 | g.40396044T>C | CA405896568 | PRX | c.2308A>G (p.Lys770Glu) c.1891A>G (p.Lys631Glu) c.2593A>G (p.Lys865Glu) c.2183A>G c.2169A>G c.2270A>G c.2195A>G c.*2513A>G (n.*2513A>G) c.2206A>G (p.Lys736Glu) | gnomAD v4 |
| 19 | g.40396044T>G | CA405896569 | PRX | c.2308A>C (p.Lys770Gln) c.1891A>C (p.Lys631Gln) c.2593A>C (p.Lys865Gln) c.2183A>C c.2169A>C c.2270A>C c.2195A>C c.*2513A>C (n.*2513A>C) c.2206A>C (p.Lys736Gln) | |
| 19 | g.40396045C>A | CA507679459 | PRX | c.2307G>T (p.Pro769=) c.1890G>T (p.Pro630=) c.2592G>T (p.Pro864=) c.2182G>T c.2168G>T c.2269G>T c.2194G>T c.*2512G>T (n.*2512G>T) c.2205G>T (p.Pro735=) | gnomAD v4 |
| 19 | g.40396045C= | CA2335961429 | PRX | c.2307G= (p.Pro769=) c.1890G= (p.Pro630=) c.2592G= (p.Pro864=) c.2182G= c.2168G= c.2269G= c.2194G= c.*2512G= (n.*2512G=) c.2205G= (p.Pro735=) | |
| 19 | g.40396045C>G | CA507679460 | PRX | c.2307G>C (p.Pro769=) c.1890G>C (p.Pro630=) c.2592G>C (p.Pro864=) c.2182G>C c.2168G>C c.2269G>C c.2194G>C c.*2512G>C (n.*2512G>C) c.2205G>C (p.Pro735=) | |
| 19 | g.40396045C>T | CA9444075 | PRX | c.2307G>A (p.Pro769=) c.1890G>A (p.Pro630=) c.2592G>A (p.Pro864=) c.2182G>A c.2168G>A c.2269G>A c.2194G>A c.*2512G>A (n.*2512G>A) c.2205G>A (p.Pro735=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.40396046G>A | CA9444076 | PRX | c.2306C>T (p.Pro769Leu) c.1889C>T (p.Pro630Leu) c.2591C>T (p.Pro864Leu) c.2181C>T c.2167C>T c.2268C>T c.2193C>T c.*2511C>T (n.*2511C>T) c.2204C>T (p.Pro735Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396046G>C | CA405896570 | PRX | c.2306C>G (p.Pro769Arg) c.1889C>G (p.Pro630Arg) c.2591C>G (p.Pro864Arg) c.2181C>G c.2167C>G c.2268C>G c.2193C>G c.*2511C>G (n.*2511C>G) c.2204C>G (p.Pro735Arg) | |
| 19 | g.40396046G= | CA2335961430 | PRX | c.2306C= (p.Pro769=) c.1889C= (p.Pro630=) c.2591C= (p.Pro864=) c.2181C= c.2167C= c.2268C= c.2193C= c.*2511C= (n.*2511C=) c.2204C= (p.Pro735=) | |
| 19 | g.40396046G>T | CA405896571 | PRX | c.2306C>A (p.Pro769Gln) c.1889C>A (p.Pro630Gln) c.2591C>A (p.Pro864Gln) c.2181C>A c.2167C>A c.2268C>A c.2193C>A c.*2511C>A (n.*2511C>A) c.2204C>A (p.Pro735Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40396047G>A | CA405896572 | PRX | c.2305C>T (p.Pro769Ser) c.1888C>T (p.Pro630Ser) c.2590C>T (p.Pro864Ser) c.2180C>T c.2166C>T c.2267C>T c.2192C>T c.*2510C>T (n.*2510C>T) c.2203C>T (p.Pro735Ser) | ClinVar |
| 19 | g.40396047G>C | CA405896573 | PRX | c.2305C>G (p.Pro769Ala) c.1888C>G (p.Pro630Ala) c.2590C>G (p.Pro864Ala) c.2180C>G c.2166C>G c.2267C>G c.2192C>G c.*2510C>G (n.*2510C>G) c.2203C>G (p.Pro735Ala) | |
| 19 | g.40396047G>T | CA405896574 | PRX | c.2305C>A (p.Pro769Thr) c.1888C>A (p.Pro630Thr) c.2590C>A (p.Pro864Thr) c.2180C>A c.2166C>A c.2267C>A c.2192C>A c.*2510C>A (n.*2510C>A) c.2203C>A (p.Pro735Thr) | |
| 19 | g.40396048A>C | CA507679466 | PRX | c.2304T>G (p.Leu768=) c.1887T>G (p.Leu629=) c.2589T>G (p.Leu863=) c.2179T>G c.2165T>G c.2266T>G c.2191T>G c.*2509T>G (n.*2509T>G) c.2202T>G (p.Leu734=) | |
| 19 | g.40396048A>G | CA507679467 | PRX | c.2304T>C (p.Leu768=) c.1887T>C (p.Leu629=) c.2589T>C (p.Leu863=) c.2179T>C c.2165T>C c.2266T>C c.2191T>C c.*2509T>C (n.*2509T>C) c.2202T>C (p.Leu734=) | |
| 19 | g.40396048A>T | CA507679469 | PRX | c.2304T>A (p.Leu768=) c.1887T>A (p.Leu629=) c.2589T>A (p.Leu863=) c.2179T>A c.2165T>A c.2266T>A c.2191T>A c.*2509T>A (n.*2509T>A) c.2202T>A (p.Leu734=) | |
| 19 | g.40396049A>C | CA405896575 | PRX | c.2303T>G (p.Leu768Arg) c.1886T>G (p.Leu629Arg) c.2588T>G (p.Leu863Arg) c.2178T>G c.2164T>G c.2265T>G c.2190T>G c.*2508T>G (n.*2508T>G) c.2201T>G (p.Leu734Arg) | |
| 19 | g.40396049A>G | CA405896576 | PRX | c.2303T>C (p.Leu768Pro) c.1886T>C (p.Leu629Pro) c.2588T>C (p.Leu863Pro) c.2178T>C c.2164T>C c.2265T>C c.2190T>C c.*2508T>C (n.*2508T>C) c.2201T>C (p.Leu734Pro) | |
| 19 | g.40396049A>T | CA405896577 | PRX | c.2303T>A (p.Leu768His) c.1886T>A (p.Leu629His) c.2588T>A (p.Leu863His) c.2178T>A c.2164T>A c.2265T>A c.2190T>A c.*2508T>A (n.*2508T>A) c.2201T>A (p.Leu734His) | |
| 19 | g.40396050G>A | CA405896579 | PRX | c.2302C>T (p.Leu768Phe) c.1885C>T (p.Leu629Phe) c.2587C>T (p.Leu863Phe) c.2177C>T c.2163C>T c.2264C>T c.2189C>T c.*2507C>T (n.*2507C>T) c.2200C>T (p.Leu734Phe) | |
| 19 | g.40396050G>C | CA405896580 | PRX | c.2302C>G (p.Leu768Val) c.1885C>G (p.Leu629Val) c.2587C>G (p.Leu863Val) c.2177C>G c.2163C>G c.2264C>G c.2189C>G c.*2507C>G (n.*2507C>G) c.2200C>G (p.Leu734Val) | |
| 19 | g.40396050G>T | CA405896578 | PRX | c.2302C>A (p.Leu768Ile) c.1885C>A (p.Leu629Ile) c.2587C>A (p.Leu863Ile) c.2177C>A c.2163C>A c.2264C>A c.2189C>A c.*2507C>A (n.*2507C>A) c.2200C>A (p.Leu734Ile) | |
| 19 | g.40396051del | CA2739276800 | PRX | c.2301del (p.Leu768PhefsTer7) c.1884del (p.Leu629PhefsTer7) c.2586del (p.Leu863PhefsTer7) c.2176del c.2162del c.2263del c.2188del c.*2506del (n.*2506del) c.2199del (p.Leu734PhefsTer7) | ClinVar |
| 19 | g.40396051A= | CA2335961431 | PRX | c.2301T= (p.His767=) c.1884T= (p.His628=) c.2586T= (p.His862=) c.2176T= c.2162T= c.2263T= c.2188T= c.*2506T= (n.*2506T=) c.2199T= (p.His733=) | |
| 19 | g.40396051A>C | CA405896581 | PRX | c.2301T>G (p.His767Gln) c.1884T>G (p.His628Gln) c.2586T>G (p.His862Gln) c.2176T>G c.2162T>G c.2263T>G c.2188T>G c.*2506T>G (n.*2506T>G) c.2199T>G (p.His733Gln) | |
| 19 | g.40396051A>G | CA9444077 | PRX | c.2301T>C (p.His767=) c.1884T>C (p.His628=) c.2586T>C (p.His862=) c.2176T>C c.2162T>C c.2263T>C c.2188T>C c.*2506T>C (n.*2506T>C) c.2199T>C (p.His733=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40396051A>T | CA405896582 | PRX | c.2301T>A (p.His767Gln) c.1884T>A (p.His628Gln) c.2586T>A (p.His862Gln) c.2176T>A c.2162T>A c.2263T>A c.2188T>A c.*2506T>A (n.*2506T>A) c.2199T>A (p.His733Gln) | |
| 19 | g.40396052T>A | CA405896583 | PRX | c.2300A>T (p.His767Leu) c.1883A>T (p.His628Leu) c.2585A>T (p.His862Leu) c.2175A>T c.2161A>T c.2262A>T c.2187A>T c.*2505A>T (n.*2505A>T) c.2198A>T (p.His733Leu) | |
| 19 | g.40396052T>C | CA405896584 | PRX | c.2300A>G (p.His767Arg) c.1883A>G (p.His628Arg) c.2585A>G (p.His862Arg) c.2175A>G c.2161A>G c.2262A>G c.2187A>G c.*2505A>G (n.*2505A>G) c.2198A>G (p.His733Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.40396052T>G | CA9444078 | PRX | c.2300A>C (p.His767Pro) c.1883A>C (p.His628Pro) c.2585A>C (p.His862Pro) c.2175A>C c.2161A>C c.2262A>C c.2187A>C c.*2505A>C (n.*2505A>C) c.2198A>C (p.His733Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40396052T= | CA2335961432 | PRX | c.2300A= (p.His767=) c.1883A= (p.His628=) c.2585A= (p.His862=) c.2175A= c.2161A= c.2262A= c.2187A= c.*2505A= (n.*2505A=) c.2198A= (p.His733=) | |
| 19 | g.40396053G>A | CA405896585 | PRX | c.2299C>T (p.His767Tyr) c.1882C>T (p.His628Tyr) c.2584C>T (p.His862Tyr) c.2174C>T c.2160C>T c.2261C>T c.2186C>T c.*2504C>T (n.*2504C>T) c.2197C>T (p.His733Tyr) | gnomAD v4 |
| 19 | g.40396053G>C | CA405896586 | PRX | c.2299C>G (p.His767Asp) c.1882C>G (p.His628Asp) c.2584C>G (p.His862Asp) c.2174C>G c.2160C>G c.2261C>G c.2186C>G c.*2504C>G (n.*2504C>G) c.2197C>G (p.His733Asp) | |
| 19 | g.40396053G>T | CA405896587 | PRX | c.2299C>A (p.His767Asn) c.1882C>A (p.His628Asn) c.2584C>A (p.His862Asn) c.2174C>A c.2160C>A c.2261C>A c.2186C>A c.*2504C>A (n.*2504C>A) c.2197C>A (p.His733Asn) | |
| 19 | g.40396054C>A | CA507679480 | PRX | c.2298G>T (p.Val766=) c.1881G>T (p.Val627=) c.2583G>T (p.Val861=) c.2173G>T c.2159G>T c.2260G>T c.2185G>T c.*2503G>T (n.*2503G>T) c.2196G>T (p.Val732=) | |
| 19 | g.40396054C>G | CA507679481 | PRX | c.2298G>C (p.Val766=) c.1881G>C (p.Val627=) c.2583G>C (p.Val861=) c.2173G>C c.2159G>C c.2260G>C c.2185G>C c.*2503G>C (n.*2503G>C) c.2196G>C (p.Val732=) | |
| 19 | g.40396054C>T | CA507679482 | PRX | c.2298G>A (p.Val766=) c.1881G>A (p.Val627=) c.2583G>A (p.Val861=) c.2173G>A c.2159G>A c.2260G>A c.2185G>A c.*2503G>A (n.*2503G>A) c.2196G>A (p.Val732=) | |
| 19 | g.40396055A= | CA2335961433 | PRX | c.2297T= (p.Val766=) c.1880T= (p.Val627=) c.2582T= (p.Val861=) c.2172T= c.2158T= c.2259T= c.2184T= c.*2502T= (n.*2502T=) c.2195T= (p.Val732=) | |
| 19 | g.40396055A>C | CA405896588 | PRX | c.2297T>G (p.Val766Gly) c.1880T>G (p.Val627Gly) c.2582T>G (p.Val861Gly) c.2172T>G c.2158T>G c.2259T>G c.2184T>G c.*2502T>G (n.*2502T>G) c.2195T>G (p.Val732Gly) | dbSNP |
| 19 | g.40396055A>G | CA405896589 | PRX | c.2297T>C (p.Val766Ala) c.1880T>C (p.Val627Ala) c.2582T>C (p.Val861Ala) c.2172T>C c.2158T>C c.2259T>C c.2184T>C c.*2502T>C (n.*2502T>C) c.2195T>C (p.Val732Ala) | ClinVar dbSNP |
| 19 | g.40396055A>T | CA405896590 | PRX | c.2297T>A (p.Val766Glu) c.1880T>A (p.Val627Glu) c.2582T>A (p.Val861Glu) c.2172T>A c.2158T>A c.2259T>A c.2184T>A c.*2502T>A (n.*2502T>A) c.2195T>A (p.Val732Glu) | |
| 19 | g.40396056C>A | CA405896592 | PRX | c.2296G>T (p.Val766Leu) c.1879G>T (p.Val627Leu) c.2581G>T (p.Val861Leu) c.2171G>T c.2157G>T c.2258G>T c.2183G>T c.*2501G>T (n.*2501G>T) c.2194G>T (p.Val732Leu) | |
| 19 | g.40396056C= | CA2335961434 | PRX | c.2296G= (p.Val766=) c.1879G= (p.Val627=) c.2581G= (p.Val861=) c.2171G= c.2157G= c.2258G= c.2183G= c.*2501G= (n.*2501G=) c.2194G= (p.Val732=) | |
| 19 | g.40396056C>G | CA405896591 | PRX | c.2296G>C (p.Val766Leu) c.1879G>C (p.Val627Leu) c.2581G>C (p.Val861Leu) c.2171G>C c.2157G>C c.2258G>C c.2183G>C c.*2501G>C (n.*2501G>C) c.2194G>C (p.Val732Leu) | gnomAD v4 |
| 19 | g.40396056C>T | CA9444079 | PRX | c.2296G>A (p.Val766Met) c.1879G>A (p.Val627Met) c.2581G>A (p.Val861Met) c.2171G>A c.2157G>A c.2258G>A c.2183G>A c.*2501G>A (n.*2501G>A) c.2194G>A (p.Val732Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396057G>A | CA9444080 | PRX | c.2295C>T (p.Asp765=) c.1878C>T (p.Asp626=) c.2580C>T (p.Asp860=) c.2170C>T c.2156C>T c.2257C>T c.2182C>T c.*2500C>T (n.*2500C>T) c.2193C>T (p.Asp731=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396057G>C | CA405896593 | PRX | c.2295C>G (p.Asp765Glu) c.1878C>G (p.Asp626Glu) c.2580C>G (p.Asp860Glu) c.2170C>G c.2156C>G c.2257C>G c.2182C>G c.*2500C>G (n.*2500C>G) c.2193C>G (p.Asp731Glu) | |
| 19 | g.40396057G= | CA2335961435 | PRX | c.2295C= (p.Asp765=) c.1878C= (p.Asp626=) c.2580C= (p.Asp860=) c.2170C= c.2156C= c.2257C= c.2182C= c.*2500C= (n.*2500C=) c.2193C= (p.Asp731=) | |
| 19 | g.40396057G>T | CA405896594 | PRX | c.2295C>A (p.Asp765Glu) c.1878C>A (p.Asp626Glu) c.2580C>A (p.Asp860Glu) c.2170C>A c.2156C>A c.2257C>A c.2182C>A c.*2500C>A (n.*2500C>A) c.2193C>A (p.Asp731Glu) | |
| 19 | g.40396058T>A | CA405896595 | PRX | c.2294A>T (p.Asp765Val) c.1877A>T (p.Asp626Val) c.2579A>T (p.Asp860Val) c.2169A>T c.2155A>T c.2256A>T c.2181A>T c.*2499A>T (n.*2499A>T) c.2192A>T (p.Asp731Val) | gnomAD v4 |
| 19 | g.40396058T>C | CA405896596 | PRX | c.2294A>G (p.Asp765Gly) c.1877A>G (p.Asp626Gly) c.2579A>G (p.Asp860Gly) c.2169A>G c.2155A>G c.2256A>G c.2181A>G c.*2499A>G (n.*2499A>G) c.2192A>G (p.Asp731Gly) | |
| 19 | g.40396058T>G | CA405896597 | PRX | c.2294A>C (p.Asp765Ala) c.1877A>C (p.Asp626Ala) c.2579A>C (p.Asp860Ala) c.2169A>C c.2155A>C c.2256A>C c.2181A>C c.*2499A>C (n.*2499A>C) c.2192A>C (p.Asp731Ala) | |
| 19 | g.40396059C>A | CA9444081 | PRX | c.2293G>T (p.Asp765Tyr) c.1876G>T (p.Asp626Tyr) c.2578G>T (p.Asp860Tyr) c.2168G>T c.2154G>T c.2255G>T c.2180G>T c.*2498G>T (n.*2498G>T) c.2191G>T (p.Asp731Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396059C= | CA2335961436 | PRX | c.2293G= (p.Asp765=) c.1876G= (p.Asp626=) c.2578G= (p.Asp860=) c.2168G= c.2154G= c.2255G= c.2180G= c.*2498G= (n.*2498G=) c.2191G= (p.Asp731=) | |
| 19 | g.40396059C>G | CA405896598 | PRX | c.2293G>C (p.Asp765His) c.1876G>C (p.Asp626His) c.2578G>C (p.Asp860His) c.2168G>C c.2154G>C c.2255G>C c.2180G>C c.*2498G>C (n.*2498G>C) c.2191G>C (p.Asp731His) | |
| 19 | g.40396059C>T | CA9444082 | PRX | c.2293G>A (p.Asp765Asn) c.1876G>A (p.Asp626Asn) c.2578G>A (p.Asp860Asn) c.2168G>A c.2154G>A c.2255G>A c.2180G>A c.*2498G>A (n.*2498G>A) c.2191G>A (p.Asp731Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396060G>A | CA336820 | PRX | c.2292C>T (p.Pro764=) c.1875C>T (p.Pro625=) c.2577C>T (p.Pro859=) c.2167C>T c.2153C>T c.2254C>T c.2179C>T c.*2497C>T (n.*2497C>T) c.2190C>T (p.Pro730=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396060G>C | CA9444083 | PRX | c.2292C>G (p.Pro764=) c.1875C>G (p.Pro625=) c.2577C>G (p.Pro859=) c.2167C>G c.2153C>G c.2254C>G c.2179C>G c.*2497C>G (n.*2497C>G) c.2190C>G (p.Pro730=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396060G= | CA2335961437 | PRX | c.2292C= (p.Pro764=) c.1875C= (p.Pro625=) c.2577C= (p.Pro859=) c.2167C= c.2153C= c.2254C= c.2179C= c.*2497C= (n.*2497C=) c.2190C= (p.Pro730=) | |
| 19 | g.40396060G>T | CA507679490 | PRX | c.2292C>A (p.Pro764=) c.1875C>A (p.Pro625=) c.2577C>A (p.Pro859=) c.2167C>A c.2153C>A c.2254C>A c.2179C>A c.*2497C>A (n.*2497C>A) c.2190C>A (p.Pro730=) | |
| 19 | g.40396061G>A | CA405896601 | PRX | c.2291C>T (p.Pro764Leu) c.1874C>T (p.Pro625Leu) c.2576C>T (p.Pro859Leu) c.2166C>T c.2152C>T c.2253C>T c.2178C>T c.*2496C>T (n.*2496C>T) c.2189C>T (p.Pro730Leu) | |
| 19 | g.40396061G>C | CA405896600 | PRX | c.2291C>G (p.Pro764Arg) c.1874C>G (p.Pro625Arg) c.2576C>G (p.Pro859Arg) c.2166C>G c.2152C>G c.2253C>G c.2178C>G c.*2496C>G (n.*2496C>G) c.2189C>G (p.Pro730Arg) | |
| 19 | g.40396061G>T | CA405896599 | PRX | c.2291C>A (p.Pro764His) c.1874C>A (p.Pro625His) c.2576C>A (p.Pro859His) c.2166C>A c.2152C>A c.2253C>A c.2178C>A c.*2496C>A (n.*2496C>A) c.2189C>A (p.Pro730His) | |
| 19 | g.40396062G>A | CA9444084 | PRX | c.2290C>T (p.Pro764Ser) c.1873C>T (p.Pro625Ser) c.2575C>T (p.Pro859Ser) c.2165C>T c.2151C>T c.2252C>T c.2177C>T c.*2495C>T (n.*2495C>T) c.2188C>T (p.Pro730Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396062G>C | CA405896602 | PRX | c.2290C>G (p.Pro764Ala) c.1873C>G (p.Pro625Ala) c.2575C>G (p.Pro859Ala) c.2165C>G c.2151C>G c.2252C>G c.2177C>G c.*2495C>G (n.*2495C>G) c.2188C>G (p.Pro730Ala) | |
| 19 | g.40396062G= | CA2335961438 | PRX | c.2290C= (p.Pro764=) c.1873C= (p.Pro625=) c.2575C= (p.Pro859=) c.2165C= c.2151C= c.2252C= c.2177C= c.*2495C= (n.*2495C=) c.2188C= (p.Pro730=) | |
| 19 | g.40396062G>T | CA405896603 | PRX | c.2290C>A (p.Pro764Thr) c.1873C>A (p.Pro625Thr) c.2575C>A (p.Pro859Thr) c.2165C>A c.2151C>A c.2252C>A c.2177C>A c.*2495C>A (n.*2495C>A) c.2188C>A (p.Pro730Thr) | |
| 19 | g.40396062_40396063delinsGA | CA2335961439 | PRX | c.2289_2290delinsTC (p.Val763=) c.1872_1873delinsTC (p.Val624=) c.2574_2575delinsTC (p.Val858=) c.2164_2165delinsTC c.2150_2151delinsTC c.2251_2252delinsTC c.2176_2177delinsTC c.*2494_*2495delinsTC (n.*2494_*2495delinsTC) c.2187_2188delinsTC (p.Val729=) | |
| 19 | g.40396063A>C | CA507679497 | PRX | c.2289T>G (p.Val763=) c.1872T>G (p.Val624=) c.2574T>G (p.Val858=) c.2164T>G c.2150T>G c.2251T>G c.2176T>G c.*2494T>G (n.*2494T>G) c.2187T>G (p.Val729=) | |
| 19 | g.40396063A>G | CA507679495 | PRX | c.2289T>C (p.Val763=) c.1872T>C (p.Val624=) c.2574T>C (p.Val858=) c.2164T>C c.2150T>C c.2251T>C c.2176T>C c.*2494T>C (n.*2494T>C) c.2187T>C (p.Val729=) | |
| 19 | g.40396063A>T | CA507679496 | PRX | c.2289T>A (p.Val763=) c.1872T>A (p.Val624=) c.2574T>A (p.Val858=) c.2164T>A c.2150T>A c.2251T>A c.2176T>A c.*2494T>A (n.*2494T>A) c.2187T>A (p.Val729=) | |
| 19 | g.40396064del | CA276018 | PRX | c.2289del (p.Asp765ThrfsTer10) c.1872del (p.Asp626ThrfsTer10) c.2574del (p.Asp860ThrfsTer10) c.2164del c.2150del c.2251del c.2176del c.*2494del (n.*2494del) c.2187del (p.Asp731ThrfsTer10) | ClinVar dbSNP gnomAD v4 |
| 19 | g.40396064A>C | CA405896604 | PRX | c.2288T>G (p.Val763Gly) c.1871T>G (p.Val624Gly) c.2573T>G (p.Val858Gly) c.2163T>G c.2149T>G c.2250T>G c.2175T>G c.*2493T>G (n.*2493T>G) c.2186T>G (p.Val729Gly) | |
| 19 | g.40396064A>G | CA405896605 | PRX | c.2288T>C (p.Val763Ala) c.1871T>C (p.Val624Ala) c.2573T>C (p.Val858Ala) c.2163T>C c.2149T>C c.2250T>C c.2175T>C c.*2493T>C (n.*2493T>C) c.2186T>C (p.Val729Ala) | gnomAD v4 |
| 19 | g.40396064A>T | CA405896606 | PRX | c.2288T>A (p.Val763Asp) c.1871T>A (p.Val624Asp) c.2573T>A (p.Val858Asp) c.2163T>A c.2149T>A c.2250T>A c.2175T>A c.*2493T>A (n.*2493T>A) c.2186T>A (p.Val729Asp) | |
| 19 | g.40396065C>A | CA405896607 | PRX | c.2287G>T (p.Val763Phe) c.1870G>T (p.Val624Phe) c.2572G>T (p.Val858Phe) c.2162G>T c.2148G>T c.2249G>T c.2174G>T c.*2492G>T (n.*2492G>T) c.2185G>T (p.Val729Phe) | |
| 19 | g.40396065C>G | CA405896608 | PRX | c.2287G>C (p.Val763Leu) c.1870G>C (p.Val624Leu) c.2572G>C (p.Val858Leu) c.2162G>C c.2148G>C c.2249G>C c.2174G>C c.*2492G>C (n.*2492G>C) c.2185G>C (p.Val729Leu) | |
| 19 | g.40396065C>T | CA405896609 | PRX | c.2287G>A (p.Val763Ile) c.1870G>A (p.Val624Ile) c.2572G>A (p.Val858Ile) c.2162G>A c.2148G>A c.2249G>A c.2174G>A c.*2492G>A (n.*2492G>A) c.2185G>A (p.Val729Ile) | |
| 19 | g.40396066C>A | CA405896610 | PRX | c.2286G>T (p.Lys762Asn) c.1869G>T (p.Lys623Asn) c.2571G>T (p.Lys857Asn) c.2161G>T c.2147G>T c.2248G>T c.2173G>T c.*2491G>T (n.*2491G>T) c.2184G>T (p.Lys728Asn) | |
| 19 | g.40396066C= | CA2335961440 | PRX | c.2286G= (p.Lys762=) c.1869G= (p.Lys623=) c.2571G= (p.Lys857=) c.2161G= c.2147G= c.2248G= c.2173G= c.*2491G= (n.*2491G=) c.2184G= (p.Lys728=) | |
| 19 | g.40396066C>G | CA405896611 | PRX | c.2286G>C (p.Lys762Asn) c.1869G>C (p.Lys623Asn) c.2571G>C (p.Lys857Asn) c.2161G>C c.2147G>C c.2248G>C c.2173G>C c.*2491G>C (n.*2491G>C) c.2184G>C (p.Lys728Asn) | |
| 19 | g.40396066C>T | CA9444085 | PRX | c.2286G>A (p.Lys762=) c.1869G>A (p.Lys623=) c.2571G>A (p.Lys857=) c.2161G>A c.2147G>A c.2248G>A c.2173G>A c.*2491G>A (n.*2491G>A) c.2184G>A (p.Lys728=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396067T>A | CA405896612 | PRX | c.2285A>T (p.Lys762Met) c.1868A>T (p.Lys623Met) c.2570A>T (p.Lys857Met) c.2160A>T c.2146A>T c.2247A>T c.2172A>T c.*2490A>T (n.*2490A>T) c.2183A>T (p.Lys728Met) | |
| 19 | g.40396067T>C | CA308418472 | PRX | c.2285A>G (p.Lys762Arg) c.1868A>G (p.Lys623Arg) c.2570A>G (p.Lys857Arg) c.2160A>G c.2146A>G c.2247A>G c.2172A>G c.*2490A>G (n.*2490A>G) c.2183A>G (p.Lys728Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396067T>G | CA405896613 | PRX | c.2285A>C (p.Lys762Thr) c.1868A>C (p.Lys623Thr) c.2570A>C (p.Lys857Thr) c.2160A>C c.2146A>C c.2247A>C c.2172A>C c.*2490A>C (n.*2490A>C) c.2183A>C (p.Lys728Thr) | |
| 19 | g.40396067T= | CA2335961441 | PRX | c.2285A= (p.Lys762=) c.1868A= (p.Lys623=) c.2570A= (p.Lys857=) c.2160A= c.2146A= c.2247A= c.2172A= c.*2490A= (n.*2490A=) c.2183A= (p.Lys728=) | |
| 19 | g.40396067_40396070delinsTTCG | CA2335961442 | PRX | c.2282_2285delinsCGAA (p.Pro761=) c.1865_1868delinsCGAA (p.Pro622=) c.2567_2570delinsCGAA (p.Pro856=) c.2157_2160delinsCGAA c.2143_2146delinsCGAA c.2244_2247delinsCGAA c.2169_2172delinsCGAA c.*2487_*2490delinsCGAA (n.*2487_*2490delinsCGAA) c.2180_2183delinsCGAA (p.Pro727=) | |
| 19 | g.40396068T>A | CA405896614 | PRX | c.2284A>T (p.Lys762Ter) c.1867A>T (p.Lys623Ter) c.2569A>T (p.Lys857Ter) c.2159A>T c.2145A>T c.2246A>T c.2171A>T c.*2489A>T (n.*2489A>T) c.2182A>T (p.Lys728Ter) | |
| 19 | g.40396068T>C | CA405896616 | PRX | c.2284A>G (p.Lys762Glu) c.1867A>G (p.Lys623Glu) c.2569A>G (p.Lys857Glu) c.2159A>G c.2145A>G c.2246A>G c.2171A>G c.*2489A>G (n.*2489A>G) c.2182A>G (p.Lys728Glu) | |
| 19 | g.40396068T>G | CA405896615 | PRX | c.2284A>C (p.Lys762Gln) c.1867A>C (p.Lys623Gln) c.2569A>C (p.Lys857Gln) c.2159A>C c.2145A>C c.2246A>C c.2171A>C c.*2489A>C (n.*2489A>C) c.2182A>C (p.Lys728Gln) | |
| 19 | g.40396068_40396070del | CA645369783 | PRX | c.2282_2284del (p.Pro761_Lys762delinsGln) c.1865_1867del (p.Pro622_Lys623delinsGln) c.2567_2569del (p.Pro856_Lys857delinsGln) c.2157_2159del c.2143_2145del c.2244_2246del c.2169_2171del c.*2487_*2489del (n.*2487_*2489del) c.2180_2182del (p.Pro727_Lys728delinsGln) | ClinVar dbSNP |
| 19 | g.40396069C>A | CA507679502 | PRX | c.2283G>T (p.Pro761=) c.1866G>T (p.Pro622=) c.2568G>T (p.Pro856=) c.2158G>T c.2144G>T c.2245G>T c.2170G>T c.*2488G>T (n.*2488G>T) c.2181G>T (p.Pro727=) | |
| 19 | g.40396069C= | CA2335961443 | PRX | c.2283G= (p.Pro761=) c.1866G= (p.Pro622=) c.2568G= (p.Pro856=) c.2158G= c.2144G= c.2245G= c.2170G= c.*2488G= (n.*2488G=) c.2181G= (p.Pro727=) | |
| 19 | g.40396069C>G | CA507679503 | PRX | c.2283G>C (p.Pro761=) c.1866G>C (p.Pro622=) c.2568G>C (p.Pro856=) c.2158G>C c.2144G>C c.2245G>C c.2170G>C c.*2488G>C (n.*2488G>C) c.2181G>C (p.Pro727=) | |
| 19 | g.40396069C>T | CA507679504 | PRX | c.2283G>A (p.Pro761=) c.1866G>A (p.Pro622=) c.2568G>A (p.Pro856=) c.2158G>A c.2144G>A c.2245G>A c.2170G>A c.*2488G>A (n.*2488G>A) c.2181G>A (p.Pro727=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.40396070_40396072dup | CA2576785598 | PRX | c.2281_2283dup (p.Pro761_Lys762insPro) c.1864_1866dup (p.Pro622_Lys623insPro) c.2566_2568dup (p.Pro856_Lys857insPro) c.2156_2158dup c.2142_2144dup c.2243_2245dup c.2168_2170dup c.*2486_*2488dup (n.*2486_*2488dup) c.2179_2181dup (p.Pro727_Lys728insPro) | |
| 19 | g.40396070G>A | CA9444086 | PRX | c.2282C>T (p.Pro761Leu) c.1865C>T (p.Pro622Leu) c.2567C>T (p.Pro856Leu) c.2157C>T c.2143C>T c.2244C>T c.2169C>T c.*2487C>T (n.*2487C>T) c.2180C>T (p.Pro727Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396070G>C | CA405896617 | PRX | c.2282C>G (p.Pro761Arg) c.1865C>G (p.Pro622Arg) c.2567C>G (p.Pro856Arg) c.2157C>G c.2143C>G c.2244C>G c.2169C>G c.*2487C>G (n.*2487C>G) c.2180C>G (p.Pro727Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396070G= | CA2335961444 | PRX | c.2282C= (p.Pro761=) c.1865C= (p.Pro622=) c.2567C= (p.Pro856=) c.2157C= c.2143C= c.2244C= c.2169C= c.*2487C= (n.*2487C=) c.2180C= (p.Pro727=) | |
| 19 | g.40396070G>T | CA405896618 | PRX | c.2282C>A (p.Pro761Gln) c.1865C>A (p.Pro622Gln) c.2567C>A (p.Pro856Gln) c.2157C>A c.2143C>A c.2244C>A c.2169C>A c.*2487C>A (n.*2487C>A) c.2180C>A (p.Pro727Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396071G>A | CA405896619 | PRX | c.2281C>T (p.Pro761Ser) c.1864C>T (p.Pro622Ser) c.2566C>T (p.Pro856Ser) c.2156C>T c.2142C>T c.2243C>T c.2168C>T c.*2486C>T (n.*2486C>T) c.2179C>T (p.Pro727Ser) | ClinVar dbSNP |
| 19 | g.40396071G>C | CA405896620 | PRX | c.2281C>G (p.Pro761Ala) c.1864C>G (p.Pro622Ala) c.2566C>G (p.Pro856Ala) c.2156C>G c.2142C>G c.2243C>G c.2168C>G c.*2486C>G (n.*2486C>G) c.2179C>G (p.Pro727Ala) | |
| 19 | g.40396071G= | CA2335961445 | PRX | c.2281C= (p.Pro761=) c.1864C= (p.Pro622=) c.2566C= (p.Pro856=) c.2156C= c.2142C= c.2243C= c.2168C= c.*2486C= (n.*2486C=) c.2179C= (p.Pro727=) | |
| 19 | g.40396071G>T | CA405896621 | PRX | c.2281C>A (p.Pro761Thr) c.1864C>A (p.Pro622Thr) c.2566C>A (p.Pro856Thr) c.2156C>A c.2142C>A c.2243C>A c.2168C>A c.*2486C>A (n.*2486C>A) c.2179C>A (p.Pro727Thr) | gnomAD v4 |
| 19 | g.40396072C>A | CA9444087 | PRX | c.2280G>T (p.Val760=) c.1863G>T (p.Val621=) c.2565G>T (p.Val855=) c.2155G>T c.2141G>T c.2242G>T c.2167G>T c.*2485G>T (n.*2485G>T) c.2178G>T (p.Val726=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396072C= | CA2335961446 | PRX | c.2280G= (p.Val760=) c.1863G= (p.Val621=) c.2565G= (p.Val855=) c.2155G= c.2141G= c.2242G= c.2167G= c.*2485G= (n.*2485G=) c.2178G= (p.Val726=) | |
| 19 | g.40396072C>G | CA507679509 | PRX | c.2280G>C (p.Val760=) c.1863G>C (p.Val621=) c.2565G>C (p.Val855=) c.2155G>C c.2141G>C c.2242G>C c.2167G>C c.*2485G>C (n.*2485G>C) c.2178G>C (p.Val726=) | |
| 19 | g.40396072C>T | CA507679510 | PRX | c.2280G>A (p.Val760=) c.1863G>A (p.Val621=) c.2565G>A (p.Val855=) c.2155G>A c.2141G>A c.2242G>A c.2167G>A c.*2485G>A (n.*2485G>A) c.2178G>A (p.Val726=) | |
| 19 | g.40396073A>C | CA405896622 | PRX | c.2279T>G (p.Val760Gly) c.1862T>G (p.Val621Gly) c.2564T>G (p.Val855Gly) c.2154T>G c.2140T>G c.2241T>G c.2166T>G c.*2484T>G (n.*2484T>G) c.2177T>G (p.Val726Gly) | |
| 19 | g.40396073A>G | CA405896623 | PRX | c.2279T>C (p.Val760Ala) c.1862T>C (p.Val621Ala) c.2564T>C (p.Val855Ala) c.2154T>C c.2140T>C c.2241T>C c.2166T>C c.*2484T>C (n.*2484T>C) c.2177T>C (p.Val726Ala) | |
| 19 | g.40396073A>T | CA405896624 | PRX | c.2279T>A (p.Val760Glu) c.1862T>A (p.Val621Glu) c.2564T>A (p.Val855Glu) c.2154T>A c.2140T>A c.2241T>A c.2166T>A c.*2484T>A (n.*2484T>A) c.2177T>A (p.Val726Glu) | |
| 19 | g.40396074C>A | CA405896625 | PRX | c.2278G>T (p.Val760Leu) c.1861G>T (p.Val621Leu) c.2563G>T (p.Val855Leu) c.2153G>T c.2139G>T c.2240G>T c.2165G>T c.*2483G>T (n.*2483G>T) c.2176G>T (p.Val726Leu) | |
| 19 | g.40396074C= | CA2335961447 | PRX | c.2278G= (p.Val760=) c.1861G= (p.Val621=) c.2563G= (p.Val855=) c.2153G= c.2139G= c.2240G= c.2165G= c.*2483G= (n.*2483G=) c.2176G= (p.Val726=) | |
| 19 | g.40396074C>G | CA405896626 | PRX | c.2278G>C (p.Val760Leu) c.1861G>C (p.Val621Leu) c.2563G>C (p.Val855Leu) c.2153G>C c.2139G>C c.2240G>C c.2165G>C c.*2483G>C (n.*2483G>C) c.2176G>C (p.Val726Leu) | |
| 19 | g.40396074C>T | CA9444088 | PRX | c.2278G>A (p.Val760Met) c.1861G>A (p.Val621Met) c.2563G>A (p.Val855Met) c.2153G>A c.2139G>A c.2240G>A c.2165G>A c.*2483G>A (n.*2483G>A) c.2176G>A (p.Val726Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396075T>A | CA405896627 | PRX | c.2277A>T (p.Gln759His) c.1860A>T (p.Gln620His) c.2562A>T (p.Gln854His) c.2152A>T c.2138A>T c.2239A>T c.2164A>T c.*2482A>T (n.*2482A>T) c.2175A>T (p.Gln725His) | |
| 19 | g.40396075T>C | CA507679514 | PRX | c.2277A>G (p.Gln759=) c.1860A>G (p.Gln620=) c.2562A>G (p.Gln854=) c.2152A>G c.2138A>G c.2239A>G c.2164A>G c.*2482A>G (n.*2482A>G) c.2175A>G (p.Gln725=) | |
| 19 | g.40396075T>G | CA405896628 | PRX | c.2277A>C (p.Gln759His) c.1860A>C (p.Gln620His) c.2562A>C (p.Gln854His) c.2152A>C c.2138A>C c.2239A>C c.2164A>C c.*2482A>C (n.*2482A>C) c.2175A>C (p.Gln725His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40396075T= | CA2335961448 | PRX | c.2277A= (p.Gln759=) c.1860A= (p.Gln620=) c.2562A= (p.Gln854=) c.2152A= c.2138A= c.2239A= c.2164A= c.*2482A= (n.*2482A=) c.2175A= (p.Gln725=) | |
| 19 | g.40396076T>A | CA405896629 | PRX | c.2276A>T (p.Gln759Leu) c.1859A>T (p.Gln620Leu) c.2561A>T (p.Gln854Leu) c.2151A>T c.2137A>T c.2238A>T c.2163A>T c.*2481A>T (n.*2481A>T) c.2174A>T (p.Gln725Leu) | |
| 19 | g.40396076T>C | CA405896630 | PRX | c.2276A>G (p.Gln759Arg) c.1859A>G (p.Gln620Arg) c.2561A>G (p.Gln854Arg) c.2151A>G c.2137A>G c.2238A>G c.2163A>G c.*2481A>G (n.*2481A>G) c.2174A>G (p.Gln725Arg) | |
| 19 | g.40396076T>G | CA405896631 | PRX | c.2276A>C (p.Gln759Pro) c.1859A>C (p.Gln620Pro) c.2561A>C (p.Gln854Pro) c.2151A>C c.2137A>C c.2238A>C c.2163A>C c.*2481A>C (n.*2481A>C) c.2174A>C (p.Gln725Pro) | |
| 19 | g.40396077G>A | CA405896634 | PRX | c.2275C>T (p.Gln759Ter) c.1858C>T (p.Gln620Ter) c.2560C>T (p.Gln854Ter) c.2150C>T c.2136C>T c.2237C>T c.2162C>T c.*2480C>T (n.*2480C>T) c.2173C>T (p.Gln725Ter) | |
| 19 | g.40396077G>C | CA405896633 | PRX | c.2275C>G (p.Gln759Glu) c.1858C>G (p.Gln620Glu) c.2560C>G (p.Gln854Glu) c.2150C>G c.2136C>G c.2237C>G c.2162C>G c.*2480C>G (n.*2480C>G) c.2173C>G (p.Gln725Glu) | |
| 19 | g.40396077G>T | CA405896632 | PRX | c.2275C>A (p.Gln759Lys) c.1858C>A (p.Gln620Lys) c.2560C>A (p.Gln854Lys) c.2150C>A c.2136C>A c.2237C>A c.2162C>A c.*2480C>A (n.*2480C>A) c.2173C>A (p.Gln725Lys) | |
| 19 | g.40396078C>A | CA9444089 | PRX | c.2274G>T (p.Met758Ile) c.1857G>T (p.Met619Ile) c.2559G>T (p.Met853Ile) c.2149G>T c.2135G>T c.2236G>T c.2161G>T c.*2479G>T (n.*2479G>T) c.2172G>T (p.Met724Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396078C= | CA2335961449 | PRX | c.2274G= (p.Met758=) c.1857G= (p.Met619=) c.2559G= (p.Met853=) c.2149G= c.2135G= c.2236G= c.2161G= c.*2479G= (n.*2479G=) c.2172G= (p.Met724=) | |
| 19 | g.40396078C>G | CA405896635 | PRX | c.2274G>C (p.Met758Ile) c.1857G>C (p.Met619Ile) c.2559G>C (p.Met853Ile) c.2149G>C c.2135G>C c.2236G>C c.2161G>C c.*2479G>C (n.*2479G>C) c.2172G>C (p.Met724Ile) | |
| 19 | g.40396078C>T | CA405896636 | PRX | c.2274G>A (p.Met758Ile) c.1857G>A (p.Met619Ile) c.2559G>A (p.Met853Ile) c.2149G>A c.2135G>A c.2236G>A c.2161G>A c.*2479G>A (n.*2479G>A) c.2172G>A (p.Met724Ile) | |
| 19 | g.40396079A>C | CA405896637 | PRX | c.2273T>G (p.Met758Arg) c.1856T>G (p.Met619Arg) c.2558T>G (p.Met853Arg) c.2148T>G c.2134T>G c.2235T>G c.2160T>G c.*2478T>G (n.*2478T>G) c.2171T>G (p.Met724Arg) | |
| 19 | g.40396079A>G | CA405896638 | PRX | c.2273T>C (p.Met758Thr) c.1856T>C (p.Met619Thr) c.2558T>C (p.Met853Thr) c.2148T>C c.2134T>C c.2235T>C c.2160T>C c.*2478T>C (n.*2478T>C) c.2171T>C (p.Met724Thr) | |
| 19 | g.40396079A>T | CA405896639 | PRX | c.2273T>A (p.Met758Lys) c.1856T>A (p.Met619Lys) c.2558T>A (p.Met853Lys) c.2148T>A c.2134T>A c.2235T>A c.2160T>A c.*2478T>A (n.*2478T>A) c.2171T>A (p.Met724Lys) | |
| 19 | g.40396080T>A | CA405896640 | PRX | c.2272A>T (p.Met758Leu) c.1855A>T (p.Met619Leu) c.2557A>T (p.Met853Leu) c.2147A>T c.2133A>T c.2234A>T c.2159A>T c.*2477A>T (n.*2477A>T) c.2170A>T (p.Met724Leu) | dbSNP |
| 19 | g.40396080T>C | CA405896642 | PRX | c.2272A>G (p.Met758Val) c.1855A>G (p.Met619Val) c.2557A>G (p.Met853Val) c.2147A>G c.2133A>G c.2234A>G c.2159A>G c.*2477A>G (n.*2477A>G) c.2170A>G (p.Met724Val) | |
| 19 | g.40396080T>G | CA405896641 | PRX | c.2272A>C (p.Met758Leu) c.1855A>C (p.Met619Leu) c.2557A>C (p.Met853Leu) c.2147A>C c.2133A>C c.2234A>C c.2159A>C c.*2477A>C (n.*2477A>C) c.2170A>C (p.Met724Leu) | |
| 19 | g.40396080T= | CA2335961450 | PRX | c.2272A= (p.Met758=) c.1855A= (p.Met619=) c.2557A= (p.Met853=) c.2147A= c.2133A= c.2234A= c.2159A= c.*2477A= (n.*2477A=) c.2170A= (p.Met724=) | |
| 19 | g.40396081T>A | CA405896643 | PRX | c.2271A>T (p.Glu757Asp) c.1854A>T (p.Glu618Asp) c.2556A>T (p.Glu852Asp) c.2146A>T c.2132A>T c.2233A>T c.2158A>T c.*2476A>T (n.*2476A>T) c.2169A>T (p.Glu723Asp) | |
| 19 | g.40396081T>C | CA507679272 | PRX | c.2271A>G (p.Glu757=) c.1854A>G (p.Glu618=) c.2556A>G (p.Glu852=) c.2146A>G c.2132A>G c.2233A>G c.2158A>G c.*2476A>G (n.*2476A>G) c.2169A>G (p.Glu723=) | |
| 19 | g.40396081T>G | CA405896644 | PRX | c.2271A>C (p.Glu757Asp) c.1854A>C (p.Glu618Asp) c.2556A>C (p.Glu852Asp) c.2146A>C c.2132A>C c.2233A>C c.2158A>C c.*2476A>C (n.*2476A>C) c.2169A>C (p.Glu723Asp) | |
| 19 | g.40396082T>A | CA405896645 | PRX | c.2270A>T (p.Glu757Val) c.1853A>T (p.Glu618Val) c.2555A>T (p.Glu852Val) c.2145A>T c.2131A>T c.2232A>T c.2157A>T c.*2475A>T (n.*2475A>T) c.2168A>T (p.Glu723Val) | |
| 19 | g.40396082T>C | CA405896646 | PRX | c.2270A>G (p.Glu757Gly) c.1853A>G (p.Glu618Gly) c.2555A>G (p.Glu852Gly) c.2145A>G c.2131A>G c.2232A>G c.2157A>G c.*2475A>G (n.*2475A>G) c.2168A>G (p.Glu723Gly) | |
| 19 | g.40396082T>G | CA405896647 | PRX | c.2270A>C (p.Glu757Ala) c.1853A>C (p.Glu618Ala) c.2555A>C (p.Glu852Ala) c.2145A>C c.2131A>C c.2232A>C c.2157A>C c.*2475A>C (n.*2475A>C) c.2168A>C (p.Glu723Ala) | |
| 19 | g.40396083C>A | CA405896648 | PRX | c.2269G>T (p.Glu757Ter) c.1852G>T (p.Glu618Ter) c.2554G>T (p.Glu852Ter) c.2144G>T c.2130G>T c.2231G>T c.2156G>T c.*2474G>T (n.*2474G>T) c.2167G>T (p.Glu723Ter) | |
| 19 | g.40396083C>G | CA405896649 | PRX | c.2269G>C (p.Glu757Gln) c.1852G>C (p.Glu618Gln) c.2554G>C (p.Glu852Gln) c.2144G>C c.2130G>C c.2231G>C c.2156G>C c.*2474G>C (n.*2474G>C) c.2167G>C (p.Glu723Gln) | |
| 19 | g.40396083C>T | CA405896650 | PRX | c.2269G>A (p.Glu757Lys) c.1852G>A (p.Glu618Lys) c.2554G>A (p.Glu852Lys) c.2144G>A c.2130G>A c.2231G>A c.2156G>A c.*2474G>A (n.*2474G>A) c.2167G>A (p.Glu723Lys) | |
| 19 | g.40396084C>A | CA507679276 | PRX | c.2268G>T (p.Pro756=) c.1851G>T (p.Pro617=) c.2553G>T (p.Pro851=) c.2143G>T c.2129G>T c.2230G>T c.2155G>T c.*2473G>T (n.*2473G>T) c.2166G>T (p.Pro722=) | |
| 19 | g.40396084C= | CA2335961451 | PRX | c.2268G= (p.Pro756=) c.1851G= (p.Pro617=) c.2553G= (p.Pro851=) c.2143G= c.2129G= c.2230G= c.2155G= c.*2473G= (n.*2473G=) c.2166G= (p.Pro722=) | |
| 19 | g.40396084C>G | CA507679277 | PRX | c.2268G>C (p.Pro756=) c.1851G>C (p.Pro617=) c.2553G>C (p.Pro851=) c.2143G>C c.2129G>C c.2230G>C c.2155G>C c.*2473G>C (n.*2473G>C) c.2166G>C (p.Pro722=) | |
| 19 | g.40396084C>T | CA9444090 | PRX | c.2268G>A (p.Pro756=) c.1851G>A (p.Pro617=) c.2553G>A (p.Pro851=) c.2143G>A c.2129G>A c.2230G>A c.2155G>A c.*2473G>A (n.*2473G>A) c.2166G>A (p.Pro722=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.40396085G>A | CA9444091 | PRX | c.2267C>T (p.Pro756Leu) c.1850C>T (p.Pro617Leu) c.2552C>T (p.Pro851Leu) c.2142C>T c.2128C>T c.2229C>T c.2154C>T c.*2472C>T (n.*2472C>T) c.2165C>T (p.Pro722Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396085G>C | CA405896651 | PRX | c.2267C>G (p.Pro756Arg) c.1850C>G (p.Pro617Arg) c.2552C>G (p.Pro851Arg) c.2142C>G c.2128C>G c.2229C>G c.2154C>G c.*2472C>G (n.*2472C>G) c.2165C>G (p.Pro722Arg) | |
| 19 | g.40396085G= | CA2335961452 | PRX | c.2267C= (p.Pro756=) c.1850C= (p.Pro617=) c.2552C= (p.Pro851=) c.2142C= c.2128C= c.2229C= c.2154C= c.*2472C= (n.*2472C=) c.2165C= (p.Pro722=) | |
| 19 | g.40396085G>T | CA405896652 | PRX | c.2267C>A (p.Pro756Gln) c.1850C>A (p.Pro617Gln) c.2552C>A (p.Pro851Gln) c.2142C>A c.2128C>A c.2229C>A c.2154C>A c.*2472C>A (n.*2472C>A) c.2165C>A (p.Pro722Gln) | |
| 19 | g.40396086G>A | CA9444092 | PRX | c.2266C>T (p.Pro756Ser) c.1849C>T (p.Pro617Ser) c.2551C>T (p.Pro851Ser) c.2141C>T c.2127C>T c.2228C>T c.2153C>T c.*2471C>T (n.*2471C>T) c.2164C>T (p.Pro722Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40396086G>C | CA405896654 | PRX | c.2266C>G (p.Pro756Ala) c.1849C>G (p.Pro617Ala) c.2551C>G (p.Pro851Ala) c.2141C>G c.2127C>G c.2228C>G c.2153C>G c.*2471C>G (n.*2471C>G) c.2164C>G (p.Pro722Ala) | |
| 19 | g.40396086G= | CA2335961453 | PRX | c.2266C= (p.Pro756=) c.1849C= (p.Pro617=) c.2551C= (p.Pro851=) c.2141C= c.2127C= c.2228C= c.2153C= c.*2471C= (n.*2471C=) c.2164C= (p.Pro722=) | |
| 19 | g.40396086G>T | CA405896653 | PRX | c.2266C>A (p.Pro756Thr) c.1849C>A (p.Pro617Thr) c.2551C>A (p.Pro851Thr) c.2141C>A c.2127C>A c.2228C>A c.2153C>A c.*2471C>A (n.*2471C>A) c.2164C>A (p.Pro722Thr) | |
| 19 | g.40396087C>A | CA507679278 | PRX | c.2265G>T (p.Leu755=) c.1848G>T (p.Leu616=) c.2550G>T (p.Leu850=) c.2140G>T c.2126G>T c.2227G>T c.2152G>T c.*2470G>T (n.*2470G>T) c.2163G>T (p.Leu721=) | |
| 19 | g.40396087C= | CA2335961454 | PRX | c.2265G= (p.Leu755=) c.1848G= (p.Leu616=) c.2550G= (p.Leu850=) c.2140G= c.2126G= c.2227G= c.2152G= c.*2470G= (n.*2470G=) c.2163G= (p.Leu721=) | |
| 19 | g.40396087C>G | CA507679279 | PRX | c.2265G>C (p.Leu755=) c.1848G>C (p.Leu616=) c.2550G>C (p.Leu850=) c.2140G>C c.2126G>C c.2227G>C c.2152G>C c.*2470G>C (n.*2470G>C) c.2163G>C (p.Leu721=) | |
| 19 | g.40396087C>T | CA9444093 | PRX | c.2265G>A (p.Leu755=) c.1848G>A (p.Leu616=) c.2550G>A (p.Leu850=) c.2140G>A c.2126G>A c.2227G>A c.2152G>A c.*2470G>A (n.*2470G>A) c.2163G>A (p.Leu721=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396088A= | CA2335961455 | PRX | c.2264T= (p.Leu755=) c.1847T= (p.Leu616=) c.2549T= (p.Leu850=) c.2139T= c.2125T= c.2226T= c.2151T= c.*2469T= (n.*2469T=) c.2162T= (p.Leu721=) | |
| 19 | g.40396088A>C | CA405896656 | PRX | c.2264T>G (p.Leu755Arg) c.1847T>G (p.Leu616Arg) c.2549T>G (p.Leu850Arg) c.2139T>G c.2125T>G c.2226T>G c.2151T>G c.*2469T>G (n.*2469T>G) c.2162T>G (p.Leu721Arg) | |
| 19 | g.40396088A>G | CA405896655 | PRX | c.2264T>C (p.Leu755Pro) c.1847T>C (p.Leu616Pro) c.2549T>C (p.Leu850Pro) c.2139T>C c.2125T>C c.2226T>C c.2151T>C c.*2469T>C (n.*2469T>C) c.2162T>C (p.Leu721Pro) | |
| 19 | g.40396088A>T | CA405896657 | PRX | c.2264T>A (p.Leu755Gln) c.1847T>A (p.Leu616Gln) c.2549T>A (p.Leu850Gln) c.2139T>A c.2125T>A c.2226T>A c.2151T>A c.*2469T>A (n.*2469T>A) c.2162T>A (p.Leu721Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396089G>A | CA507679280 | PRX | c.2263C>T (p.Leu755=) c.1846C>T (p.Leu616=) c.2548C>T (p.Leu850=) c.2138C>T c.2124C>T c.2225C>T c.2150C>T c.*2468C>T (n.*2468C>T) c.2161C>T (p.Leu721=) | |
| 19 | g.40396089G>C | CA405896658 | PRX | c.2263C>G (p.Leu755Val) c.1846C>G (p.Leu616Val) c.2548C>G (p.Leu850Val) c.2138C>G c.2124C>G c.2225C>G c.2150C>G c.*2468C>G (n.*2468C>G) c.2161C>G (p.Leu721Val) | |
| 19 | g.40396089G>T | CA405896659 | PRX | c.2263C>A (p.Leu755Met) c.1846C>A (p.Leu616Met) c.2548C>A (p.Leu850Met) c.2138C>A c.2124C>A c.2225C>A c.2150C>A c.*2468C>A (n.*2468C>A) c.2161C>A (p.Leu721Met) | |
| 19 | g.40396090C>A | CA507679281 | PRX | c.2262G>T (p.Arg754=) c.1845G>T (p.Arg615=) c.2547G>T (p.Arg849=) c.2137G>T c.2123G>T c.2224G>T c.2149G>T c.*2467G>T (n.*2467G>T) c.2160G>T (p.Arg720=) | |
| 19 | g.40396090C>G | CA507679282 | PRX | c.2262G>C (p.Arg754=) c.1845G>C (p.Arg615=) c.2547G>C (p.Arg849=) c.2137G>C c.2123G>C c.2224G>C c.2149G>C c.*2467G>C (n.*2467G>C) c.2160G>C (p.Arg720=) | gnomAD v4 |
| 19 | g.40396090C>T | CA507679283 | PRX | c.2262G>A (p.Arg754=) c.1845G>A (p.Arg615=) c.2547G>A (p.Arg849=) c.2137G>A c.2123G>A c.2224G>A c.2149G>A c.*2467G>A (n.*2467G>A) c.2160G>A (p.Arg720=) | |
| 19 | g.40396091C>A | CA9444095 | PRX | c.2261G>T (p.Arg754Leu) c.1844G>T (p.Arg615Leu) c.2546G>T (p.Arg849Leu) c.2136G>T c.2122G>T c.2223G>T c.2148G>T c.*2466G>T (n.*2466G>T) c.2159G>T (p.Arg720Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396091C= | CA2335961456 | PRX | c.2261G= (p.Arg754=) c.1844G= (p.Arg615=) c.2546G= (p.Arg849=) c.2136G= c.2122G= c.2223G= c.2148G= c.*2466G= (n.*2466G=) c.2159G= (p.Arg720=) | |
| 19 | g.40396091C>G | CA405896660 | PRX | c.2261G>C (p.Arg754Pro) c.1844G>C (p.Arg615Pro) c.2546G>C (p.Arg849Pro) c.2136G>C c.2122G>C c.2223G>C c.2148G>C c.*2466G>C (n.*2466G>C) c.2159G>C (p.Arg720Pro) | |
| 19 | g.40396091C>T | CA9444094 | PRX | c.2261G>A (p.Arg754Gln) c.1844G>A (p.Arg615Gln) c.2546G>A (p.Arg849Gln) c.2136G>A c.2122G>A c.2223G>A c.2148G>A c.*2466G>A (n.*2466G>A) c.2159G>A (p.Arg720Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396092G>A | CA9444096 | PRX | c.2260C>T (p.Arg754Trp) c.1843C>T (p.Arg615Trp) c.2545C>T (p.Arg849Trp) c.2135C>T c.2121C>T c.2222C>T c.2147C>T c.*2465C>T (n.*2465C>T) c.2158C>T (p.Arg720Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396092G>C | CA9444097 | PRX | c.2260C>G (p.Arg754Gly) c.1843C>G (p.Arg615Gly) c.2545C>G (p.Arg849Gly) c.2135C>G c.2121C>G c.2222C>G c.2147C>G c.*2465C>G (n.*2465C>G) c.2158C>G (p.Arg720Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40396092G= | CA2335961457 | PRX | c.2260C= (p.Arg754=) c.1843C= (p.Arg615=) c.2545C= (p.Arg849=) c.2135C= c.2121C= c.2222C= c.2147C= c.*2465C= (n.*2465C=) c.2158C= (p.Arg720=) | |
| 19 | g.40396092G>T | CA507679285 | PRX | c.2260C>A (p.Arg754=) c.1843C>A (p.Arg615=) c.2545C>A (p.Arg849=) c.2135C>A c.2121C>A c.2222C>A c.2147C>A c.*2465C>A (n.*2465C>A) c.2158C>A (p.Arg720=) | |
| 19 | g.40396093A>C | CA405896661 | PRX | c.2259T>G (p.Ile753Met) c.1842T>G (p.Ile614Met) c.2544T>G (p.Ile848Met) c.2134T>G c.2120T>G c.2221T>G c.2146T>G c.*2464T>G (n.*2464T>G) c.2157T>G (p.Ile719Met) | |
| 19 | g.40396093A>G | CA507679286 | PRX | c.2259T>C (p.Ile753=) c.1842T>C (p.Ile614=) c.2544T>C (p.Ile848=) c.2134T>C c.2120T>C c.2221T>C c.2146T>C c.*2464T>C (n.*2464T>C) c.2157T>C (p.Ile719=) | |
| 19 | g.40396093A>T | CA507679287 | PRX | c.2259T>A (p.Ile753=) c.1842T>A (p.Ile614=) c.2544T>A (p.Ile848=) c.2134T>A c.2120T>A c.2221T>A c.2146T>A c.*2464T>A (n.*2464T>A) c.2157T>A (p.Ile719=) | gnomAD v4 |
| 19 | g.40396094A= | CA2335961458 | PRX | c.2258T= (p.Ile753=) c.1841T= (p.Ile614=) c.2543T= (p.Ile848=) c.2133T= c.2119T= c.2220T= c.2145T= c.*2463T= (n.*2463T=) c.2156T= (p.Ile719=) | |
| 19 | g.40396094A>C | CA405896662 | PRX | c.2258T>G (p.Ile753Ser) c.1841T>G (p.Ile614Ser) c.2543T>G (p.Ile848Ser) c.2133T>G c.2119T>G c.2220T>G c.2145T>G c.*2463T>G (n.*2463T>G) c.2156T>G (p.Ile719Ser) | |
| 19 | g.40396094A>G | CA405896663 | PRX | c.2258T>C (p.Ile753Thr) c.1841T>C (p.Ile614Thr) c.2543T>C (p.Ile848Thr) c.2133T>C c.2119T>C c.2220T>C c.2145T>C c.*2463T>C (n.*2463T>C) c.2156T>C (p.Ile719Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40396094A>T | CA405896664 | PRX | c.2258T>A (p.Ile753Asn) c.1841T>A (p.Ile614Asn) c.2543T>A (p.Ile848Asn) c.2133T>A c.2119T>A c.2220T>A c.2145T>A c.*2463T>A (n.*2463T>A) c.2156T>A (p.Ile719Asn) | |
| 19 | g.40396095T>A | CA405896667 | PRX | c.2257A>T (p.Ile753Phe) c.1840A>T (p.Ile614Phe) c.2542A>T (p.Ile848Phe) c.2132A>T c.2118A>T c.2219A>T c.2144A>T c.*2462A>T (n.*2462A>T) c.2155A>T (p.Ile719Phe) | |
| 19 | g.40396095T>C | CA405896666 | PRX | c.2257A>G (p.Ile753Val) c.1840A>G (p.Ile614Val) c.2542A>G (p.Ile848Val) c.2132A>G c.2118A>G c.2219A>G c.2144A>G c.*2462A>G (n.*2462A>G) c.2155A>G (p.Ile719Val) | |
| 19 | g.40396095T>G | CA405896665 | PRX | c.2257A>C (p.Ile753Leu) c.1840A>C (p.Ile614Leu) c.2542A>C (p.Ile848Leu) c.2132A>C c.2118A>C c.2219A>C c.2144A>C c.*2462A>C (n.*2462A>C) c.2155A>C (p.Ile719Leu) | |
| 19 | g.40396096C>A | CA405896668 | PRX | c.2256G>T (p.Glu752Asp) c.1839G>T (p.Glu613Asp) c.2541G>T (p.Glu847Asp) c.2131G>T c.2117G>T c.2218G>T c.2143G>T c.*2461G>T (n.*2461G>T) c.2154G>T (p.Glu718Asp) | dbSNP |
| 19 | g.40396096C= | CA2335961459 | PRX | c.2256G= (p.Glu752=) c.1839G= (p.Glu613=) c.2541G= (p.Glu847=) c.2131G= c.2117G= c.2218G= c.2143G= c.*2461G= (n.*2461G=) c.2154G= (p.Glu718=) | |
| 19 | g.40396096C>G | CA405896669 | PRX | c.2256G>C (p.Glu752Asp) c.1839G>C (p.Glu613Asp) c.2541G>C (p.Glu847Asp) c.2131G>C c.2117G>C c.2218G>C c.2143G>C c.*2461G>C (n.*2461G>C) c.2154G>C (p.Glu718Asp) | dbSNP gnomAD v4 |
| 19 | g.40396096C>T | CA507679289 | PRX | c.2256G>A (p.Glu752=) c.1839G>A (p.Glu613=) c.2541G>A (p.Glu847=) c.2131G>A c.2117G>A c.2218G>A c.2143G>A c.*2461G>A (n.*2461G>A) c.2154G>A (p.Glu718=) | |
| 19 | g.40396097T>A | CA405896670 | PRX | c.2255A>T (p.Glu752Val) c.1838A>T (p.Glu613Val) c.2540A>T (p.Glu847Val) c.2130A>T c.2116A>T c.2217A>T c.2142A>T c.*2460A>T (n.*2460A>T) c.2153A>T (p.Glu718Val) | |
| 19 | g.40396097T>C | CA405896671 | PRX | c.2255A>G (p.Glu752Gly) c.1838A>G (p.Glu613Gly) c.2540A>G (p.Glu847Gly) c.2130A>G c.2116A>G c.2217A>G c.2142A>G c.*2460A>G (n.*2460A>G) c.2153A>G (p.Glu718Gly) | |
| 19 | g.40396097T>G | CA405896672 | PRX | c.2255A>C (p.Glu752Ala) c.1838A>C (p.Glu613Ala) c.2540A>C (p.Glu847Ala) c.2130A>C c.2116A>C c.2217A>C c.2142A>C c.*2460A>C (n.*2460A>C) c.2153A>C (p.Glu718Ala) | |
| 19 | g.40396098C>A | CA405896673 | PRX | c.2254G>T (p.Glu752Ter) c.1837G>T (p.Glu613Ter) c.2539G>T (p.Glu847Ter) c.2129G>T c.2115G>T c.2216G>T c.2141G>T c.*2459G>T (n.*2459G>T) c.2152G>T (p.Glu718Ter) | |
| 19 | g.40396098C= | CA2335961460 | PRX | c.2254G= (p.Glu752=) c.1837G= (p.Glu613=) c.2539G= (p.Glu847=) c.2129G= c.2115G= c.2216G= c.2141G= c.*2459G= (n.*2459G=) c.2152G= (p.Glu718=) | |
| 19 | g.40396098C>G | CA405896674 | PRX | c.2254G>C (p.Glu752Gln) c.1837G>C (p.Glu613Gln) c.2539G>C (p.Glu847Gln) c.2129G>C c.2115G>C c.2216G>C c.2141G>C c.*2459G>C (n.*2459G>C) c.2152G>C (p.Glu718Gln) | COSMIC |
| 19 | g.40396098C>T | CA337174 | PRX | c.2254G>A (p.Glu752Lys) c.1837G>A (p.Glu613Lys) c.2539G>A (p.Glu847Lys) c.2129G>A c.2115G>A c.2216G>A c.2141G>A c.*2459G>A (n.*2459G>A) c.2152G>A (p.Glu718Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396099T>A | CA507679290 | PRX | c.2253A>T (p.Ser751=) c.1836A>T (p.Ser612=) c.2538A>T (p.Ser846=) c.2128A>T c.2114A>T c.2215A>T c.2140A>T c.*2458A>T (n.*2458A>T) c.2151A>T (p.Ser717=) | |
| 19 | g.40396099T>C | CA507679291 | PRX | c.2253A>G (p.Ser751=) c.1836A>G (p.Ser612=) c.2538A>G (p.Ser846=) c.2128A>G c.2114A>G c.2215A>G c.2140A>G c.*2458A>G (n.*2458A>G) c.2151A>G (p.Ser717=) | |
| 19 | g.40396099T>G | CA507679292 | PRX | c.2253A>C (p.Ser751=) c.1836A>C (p.Ser612=) c.2538A>C (p.Ser846=) c.2128A>C c.2114A>C c.2215A>C c.2140A>C c.*2458A>C (n.*2458A>C) c.2151A>C (p.Ser717=) | |
| 19 | g.40396100G>A | CA9444098 | PRX | c.2252C>T (p.Ser751Leu) c.1835C>T (p.Ser612Leu) c.2537C>T (p.Ser846Leu) c.2127C>T c.2113C>T c.2214C>T c.2139C>T c.*2457C>T (n.*2457C>T) c.2150C>T (p.Ser717Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396100G>C | CA405896675 | PRX | c.2252C>G (p.Ser751Ter) c.1835C>G (p.Ser612Ter) c.2537C>G (p.Ser846Ter) c.2127C>G c.2113C>G c.2214C>G c.2139C>G c.*2457C>G (n.*2457C>G) c.2150C>G (p.Ser717Ter) | COSMIC |
| 19 | g.40396100G= | CA2335961461 | PRX | c.2252C= (p.Ser751=) c.1835C= (p.Ser612=) c.2537C= (p.Ser846=) c.2127C= c.2113C= c.2214C= c.2139C= c.*2457C= (n.*2457C=) c.2150C= (p.Ser717=) | |
| 19 | g.40396100G>T | CA405896676 | PRX | c.2252C>A (p.Ser751Ter) c.1835C>A (p.Ser612Ter) c.2537C>A (p.Ser846Ter) c.2127C>A c.2113C>A c.2214C>A c.2139C>A c.*2457C>A (n.*2457C>A) c.2150C>A (p.Ser717Ter) | |
| 19 | g.40396101A>C | CA405896679 | PRX | c.2251T>G (p.Ser751Ala) c.1834T>G (p.Ser612Ala) c.2536T>G (p.Ser846Ala) c.2126T>G c.2112T>G c.2213T>G c.2138T>G c.*2456T>G (n.*2456T>G) c.2149T>G (p.Ser717Ala) | |
| 19 | g.40396101A>G | CA405896678 | PRX | c.2251T>C (p.Ser751Pro) c.1834T>C (p.Ser612Pro) c.2536T>C (p.Ser846Pro) c.2126T>C c.2112T>C c.2213T>C c.2138T>C c.*2456T>C (n.*2456T>C) c.2149T>C (p.Ser717Pro) | gnomAD v3 gnomAD v4 |
| 19 | g.40396101A>T | CA405896677 | PRX | c.2251T>A (p.Ser751Thr) c.1834T>A (p.Ser612Thr) c.2536T>A (p.Ser846Thr) c.2126T>A c.2112T>A c.2213T>A c.2138T>A c.*2456T>A (n.*2456T>A) c.2149T>A (p.Ser717Thr) | |
| 19 | g.40396102C>A | CA507679296 | PRX | c.2250G>T (p.Val750=) c.1833G>T (p.Val611=) c.2535G>T (p.Val845=) c.2125G>T c.2111G>T c.2212G>T c.2137G>T c.*2455G>T (n.*2455G>T) c.2148G>T (p.Val716=) | |
| 19 | g.40396102C= | CA2335961462 | PRX | c.2250G= (p.Val750=) c.1833G= (p.Val611=) c.2535G= (p.Val845=) c.2125G= c.2111G= c.2212G= c.2137G= c.*2455G= (n.*2455G=) c.2148G= (p.Val716=) | |
| 19 | g.40396102C>G | CA507679297 | PRX | c.2250G>C (p.Val750=) c.1833G>C (p.Val611=) c.2535G>C (p.Val845=) c.2125G>C c.2111G>C c.2212G>C c.2137G>C c.*2455G>C (n.*2455G>C) c.2148G>C (p.Val716=) | gnomAD v3 gnomAD v4 |
| 19 | g.40396102C>T | CA507679298 | PRX | c.2250G>A (p.Val750=) c.1833G>A (p.Val611=) c.2535G>A (p.Val845=) c.2125G>A c.2111G>A c.2212G>A c.2137G>A c.*2455G>A (n.*2455G>A) c.2148G>A (p.Val716=) | dbSNP |
| 19 | g.40396103A= | CA2335961463 | PRX | c.2249T= (p.Val750=) c.1832T= (p.Val611=) c.2534T= (p.Val845=) c.2124T= c.2110T= c.2211T= c.2136T= c.*2454T= (n.*2454T=) c.2147T= (p.Val716=) | |
| 19 | g.40396103A>C | CA405896680 | PRX | c.2249T>G (p.Val750Gly) c.1832T>G (p.Val611Gly) c.2534T>G (p.Val845Gly) c.2124T>G c.2110T>G c.2211T>G c.2136T>G c.*2454T>G (n.*2454T>G) c.2147T>G (p.Val716Gly) | dbSNP |
| 19 | g.40396103A>G | CA308419560 | PRX | c.2249T>C (p.Val750Ala) c.1832T>C (p.Val611Ala) c.2534T>C (p.Val845Ala) c.2124T>C c.2110T>C c.2211T>C c.2136T>C c.*2454T>C (n.*2454T>C) c.2147T>C (p.Val716Ala) | dbSNP gnomAD v4 |
| 19 | g.40396103A>T | CA405896681 | PRX | c.2249T>A (p.Val750Glu) c.1832T>A (p.Val611Glu) c.2534T>A (p.Val845Glu) c.2124T>A c.2110T>A c.2211T>A c.2136T>A c.*2454T>A (n.*2454T>A) c.2147T>A (p.Val716Glu) | gnomAD v4 |
| 19 | g.40396104C>A | CA405896682 | PRX | c.2248G>T (p.Val750Leu) c.1831G>T (p.Val611Leu) c.2533G>T (p.Val845Leu) c.2123G>T c.2109G>T c.2210G>T c.2135G>T c.*2453G>T (n.*2453G>T) c.2146G>T (p.Val716Leu) | |
| 19 | g.40396104C= | CA2335961464 | PRX | c.2248G= (p.Val750=) c.1831G= (p.Val611=) c.2533G= (p.Val845=) c.2123G= c.2109G= c.2210G= c.2135G= c.*2453G= (n.*2453G=) c.2146G= (p.Val716=) | |
| 19 | g.40396104C>G | CA9444099 | PRX | c.2248G>C (p.Val750Leu) c.1831G>C (p.Val611Leu) c.2533G>C (p.Val845Leu) c.2123G>C c.2109G>C c.2210G>C c.2135G>C c.*2453G>C (n.*2453G>C) c.2146G>C (p.Val716Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40396104C>T | CA405896683 | PRX | c.2248G>A (p.Val750Met) c.1831G>A (p.Val611Met) c.2533G>A (p.Val845Met) c.2123G>A c.2109G>A c.2210G>A c.2135G>A c.*2453G>A (n.*2453G>A) c.2146G>A (p.Val716Met) | gnomAD v4 |
| 19 | g.40396105T>A | CA308419562 | PRX | c.2247A>T (p.Lys749Asn) c.1830A>T (p.Lys610Asn) c.2532A>T (p.Lys844Asn) c.2122A>T c.2108A>T c.2209A>T c.2134A>T c.*2452A>T (n.*2452A>T) c.2145A>T (p.Lys715Asn) | dbSNP gnomAD v4 |
| 19 | g.40396105T>C | CA9444100 | PRX | c.2247A>G (p.Lys749=) c.1830A>G (p.Lys610=) c.2532A>G (p.Lys844=) c.2122A>G c.2108A>G c.2209A>G c.2134A>G c.*2452A>G (n.*2452A>G) c.2145A>G (p.Lys715=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396105T>G | CA405896684 | PRX | c.2247A>C (p.Lys749Asn) c.1830A>C (p.Lys610Asn) c.2532A>C (p.Lys844Asn) c.2122A>C c.2108A>C c.2209A>C c.2134A>C c.*2452A>C (n.*2452A>C) c.2145A>C (p.Lys715Asn) | gnomAD v4 |
| 19 | g.40396105T= | CA2335961465 | PRX | c.2247A= (p.Lys749=) c.1830A= (p.Lys610=) c.2532A= (p.Lys844=) c.2122A= c.2108A= c.2209A= c.2134A= c.*2452A= (n.*2452A=) c.2145A= (p.Lys715=) | |
| 19 | g.40396106T>A | CA405896685 | PRX | c.2246A>T (p.Lys749Ile) c.1829A>T (p.Lys610Ile) c.2531A>T (p.Lys844Ile) c.2121A>T c.2107A>T c.2208A>T c.2133A>T c.*2451A>T (n.*2451A>T) c.2144A>T (p.Lys715Ile) | |
| 19 | g.40396106T>C | CA405896686 | PRX | c.2246A>G (p.Lys749Arg) c.1829A>G (p.Lys610Arg) c.2531A>G (p.Lys844Arg) c.2121A>G c.2107A>G c.2208A>G c.2133A>G c.*2451A>G (n.*2451A>G) c.2144A>G (p.Lys715Arg) | |
| 19 | g.40396106T>G | CA9444101 | PRX | c.2246A>C (p.Lys749Thr) c.1829A>C (p.Lys610Thr) c.2531A>C (p.Lys844Thr) c.2121A>C c.2107A>C c.2208A>C c.2133A>C c.*2451A>C (n.*2451A>C) c.2144A>C (p.Lys715Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.40396106T= | CA2335961466 | PRX | c.2246A= (p.Lys749=) c.1829A= (p.Lys610=) c.2531A= (p.Lys844=) c.2121A= c.2107A= c.2208A= c.2133A= c.*2451A= (n.*2451A=) c.2144A= (p.Lys715=) | |
| 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=) | ClinVar |
| 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 |
| 19 | g.40396121T>A | CA405896716 | PRX | c.2231A>T (p.Glu744Val) c.1814A>T (p.Glu605Val) c.2516A>T (p.Glu839Val) c.2106A>T c.2092A>T c.2193A>T c.2118A>T c.*2436A>T (n.*2436A>T) c.2129A>T (p.Glu710Val) | |
| 19 | g.40396121T>C | CA405896714 | PRX | c.2231A>G (p.Glu744Gly) c.1814A>G (p.Glu605Gly) c.2516A>G (p.Glu839Gly) c.2106A>G c.2092A>G c.2193A>G c.2118A>G c.*2436A>G (n.*2436A>G) c.2129A>G (p.Glu710Gly) | dbSNP |
| 19 | g.40396121T>G | CA405896715 | PRX | c.2231A>C (p.Glu744Ala) c.1814A>C (p.Glu605Ala) c.2516A>C (p.Glu839Ala) c.2106A>C c.2092A>C c.2193A>C c.2118A>C c.*2436A>C (n.*2436A>C) c.2129A>C (p.Glu710Ala) | |
| 19 | g.40396121T= | CA2335961472 | PRX | c.2231A= (p.Glu744=) c.1814A= (p.Glu605=) c.2516A= (p.Glu839=) c.2106A= c.2092A= c.2193A= c.2118A= c.*2436A= (n.*2436A=) c.2129A= (p.Glu710=) | |
| 19 | g.40396122C>A | CA405896717 | PRX | c.2230G>T (p.Glu744Ter) c.1813G>T (p.Glu605Ter) c.2515G>T (p.Glu839Ter) c.2105G>T c.2091G>T c.2192G>T c.2117G>T c.*2435G>T (n.*2435G>T) c.2128G>T (p.Glu710Ter) | |
| 19 | g.40396122C= | CA2335961473 | PRX | c.2230G= (p.Glu744=) c.1813G= (p.Glu605=) c.2515G= (p.Glu839=) c.2105G= c.2091G= c.2192G= c.2117G= c.*2435G= (n.*2435G=) c.2128G= (p.Glu710=) | |
| 19 | g.40396122C>G | CA405896718 | PRX | c.2230G>C (p.Glu744Gln) c.1813G>C (p.Glu605Gln) c.2515G>C (p.Glu839Gln) c.2105G>C c.2091G>C c.2192G>C c.2117G>C c.*2435G>C (n.*2435G>C) c.2128G>C (p.Glu710Gln) | |
| 19 | g.40396122C>T | CA405896719 | PRX | c.2230G>A (p.Glu744Lys) c.1813G>A (p.Glu605Lys) c.2515G>A (p.Glu839Lys) c.2105G>A c.2091G>A c.2192G>A c.2117G>A c.*2435G>A (n.*2435G>A) c.2128G>A (p.Glu710Lys) | ClinVar dbSNP gnomAD v4 |
| 19 | g.40396123G>A | CA9444107 | PRX | c.2229C>T (p.Pro743=) c.1812C>T (p.Pro604=) c.2514C>T (p.Pro838=) c.2104C>T c.2090C>T c.2191C>T c.2116C>T c.*2434C>T (n.*2434C>T) c.2127C>T (p.Pro709=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396123G>C | CA507679314 | PRX | c.2229C>G (p.Pro743=) c.1812C>G (p.Pro604=) c.2514C>G (p.Pro838=) c.2104C>G c.2090C>G c.2191C>G c.2116C>G c.*2434C>G (n.*2434C>G) c.2127C>G (p.Pro709=) | ClinVar gnomAD v3 gnomAD v4 |
| 19 | g.40396123G= | CA2335961474 | PRX | c.2229C= (p.Pro743=) c.1812C= (p.Pro604=) c.2514C= (p.Pro838=) c.2104C= c.2090C= c.2191C= c.2116C= c.*2434C= (n.*2434C=) c.2127C= (p.Pro709=) | |
| 19 | g.40396123G>T | CA507679315 | PRX | c.2229C>A (p.Pro743=) c.1812C>A (p.Pro604=) c.2514C>A (p.Pro838=) c.2104C>A c.2090C>A c.2191C>A c.2116C>A c.*2434C>A (n.*2434C>A) c.2127C>A (p.Pro709=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396126dup | CA308419571 | PRX | c.2229dup (p.Glu744ArgfsTer?) c.1812dup (p.Glu605ArgfsTer?) c.2514dup (p.Glu839ArgfsTer?) c.2104dup c.2090dup c.2191dup c.2116dup c.*2434dup (n.*2434dup) c.2127dup (p.Glu710ArgfsTer?) | dbSNP |
| 19 | g.40396123_40396231delinsGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCT | CA2335961475 | PRX | c.2121_2229delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC (p.Pro707=) c.1704_1812delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC (p.Pro568=) c.2406_2514delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC (p.Pro802=) c.1996_2104delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC c.1982_2090delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC c.2083_2191delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC c.2008_2116delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC c.*2326_*2434delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC (n.*2326_*2434delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC) c.2019_2127delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC (p.Pro673=) | |
| 19 | g.40396124G>A | CA405896720 | PRX | c.2228C>T (p.Pro743Leu) c.1811C>T (p.Pro604Leu) c.2513C>T (p.Pro838Leu) c.2103C>T c.2089C>T c.2190C>T c.2115C>T c.*2433C>T (n.*2433C>T) c.2126C>T (p.Pro709Leu) | dbSNP gnomAD v2 |
| 19 | g.40396124G>C | CA405896721 | PRX | c.2228C>G (p.Pro743Arg) c.1811C>G (p.Pro604Arg) c.2513C>G (p.Pro838Arg) c.2103C>G c.2089C>G c.2190C>G c.2115C>G c.*2433C>G (n.*2433C>G) c.2126C>G (p.Pro709Arg) | |
| 19 | g.40396124G= | CA2335961476 | PRX | c.2228C= (p.Pro743=) c.1811C= (p.Pro604=) c.2513C= (p.Pro838=) c.2103C= c.2089C= c.2190C= c.2115C= c.*2433C= (n.*2433C=) c.2126C= (p.Pro709=) | |
| 19 | g.40396124G>T | CA405896722 | PRX | c.2228C>A (p.Pro743His) c.1811C>A (p.Pro604His) c.2513C>A (p.Pro838His) c.2103C>A c.2089C>A c.2190C>A c.2115C>A c.*2433C>A (n.*2433C>A) c.2126C>A (p.Pro709His) | |
| 19 | g.40396144_40396251del | CA633466290 | PRX | c.2121_2228del (p.Glu708_Pro743del) c.1704_1811del (p.Glu569_Pro604del) c.2406_2513del (p.Glu803_Pro838del) c.1996_2103del c.1982_2089del c.2083_2190del c.2008_2115del c.*2326_*2433del (n.*2326_*2433del) c.2019_2126del (p.Glu674_Pro709del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396125G>A | CA405896723 | PRX | c.2227C>T (p.Pro743Ser) c.1810C>T (p.Pro604Ser) c.2512C>T (p.Pro838Ser) c.2102C>T c.2088C>T c.2189C>T c.2114C>T c.*2432C>T (n.*2432C>T) c.2125C>T (p.Pro709Ser) | ClinVar gnomAD v4 |
| 19 | g.40396125G>C | CA405896724 | PRX | c.2227C>G (p.Pro743Ala) c.1810C>G (p.Pro604Ala) c.2512C>G (p.Pro838Ala) c.2102C>G c.2088C>G c.2189C>G c.2114C>G c.*2432C>G (n.*2432C>G) c.2125C>G (p.Pro709Ala) | |
| 19 | g.40396125G>T | CA405896725 | PRX | c.2227C>A (p.Pro743Thr) c.1810C>A (p.Pro604Thr) c.2512C>A (p.Pro838Thr) c.2102C>A c.2088C>A c.2189C>A c.2114C>A c.*2432C>A (n.*2432C>A) c.2125C>A (p.Pro709Thr) | |
| 19 | g.40396126G>A | CA507679316 | PRX | c.2226C>T (p.Leu742=) c.1809C>T (p.Leu603=) c.2511C>T (p.Leu837=) c.2101C>T c.2087C>T c.2188C>T c.2113C>T c.*2431C>T (n.*2431C>T) c.2124C>T (p.Leu708=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396126G>C | CA507679318 | PRX | c.2226C>G (p.Leu742=) c.1809C>G (p.Leu603=) c.2511C>G (p.Leu837=) c.2101C>G c.2087C>G c.2188C>G c.2113C>G c.*2431C>G (n.*2431C>G) c.2124C>G (p.Leu708=) | |
| 19 | g.40396126G>T | CA507679319 | PRX | c.2226C>A (p.Leu742=) c.1809C>A (p.Leu603=) c.2511C>A (p.Leu837=) c.2101C>A c.2087C>A c.2188C>A c.2113C>A c.*2431C>A (n.*2431C>A) c.2124C>A (p.Leu708=) | |
| 19 | g.40396127A= | CA2335961477 | PRX | c.2225T= (p.Leu742=) c.1808T= (p.Leu603=) c.2510T= (p.Leu837=) c.2100T= c.2086T= c.2187T= c.2112T= c.*2430T= (n.*2430T=) c.2123T= (p.Leu708=) | |
| 19 | g.40396127A>C | CA405896727 | PRX | c.2225T>G (p.Leu742Arg) c.1808T>G (p.Leu603Arg) c.2510T>G (p.Leu837Arg) c.2100T>G c.2086T>G c.2187T>G c.2112T>G c.*2430T>G (n.*2430T>G) c.2123T>G (p.Leu708Arg) | |
| 19 | g.40396127A>G | CA308419580 | PRX | c.2225T>C (p.Leu742Pro) c.1808T>C (p.Leu603Pro) c.2510T>C (p.Leu837Pro) c.2100T>C c.2086T>C c.2187T>C c.2112T>C c.*2430T>C (n.*2430T>C) c.2123T>C (p.Leu708Pro) | dbSNP |
| 19 | g.40396127A>T | CA405896726 | PRX | c.2225T>A (p.Leu742His) c.1808T>A (p.Leu603His) c.2510T>A (p.Leu837His) c.2100T>A c.2086T>A c.2187T>A c.2112T>A c.*2430T>A (n.*2430T>A) c.2123T>A (p.Leu708His) | |
| 19 | g.40396127_40396130delinsAGGT | CA2335961478 | PRX | c.2222_2225delinsACCT (p.His741=) c.1805_1808delinsACCT (p.His602=) c.2507_2510delinsACCT (p.His836=) c.2097_2100delinsACCT c.2083_2086delinsACCT c.2184_2187delinsACCT c.2109_2112delinsACCT c.*2427_*2430delinsACCT (n.*2427_*2430delinsACCT) c.2120_2123delinsACCT (p.His707=) | |
| 19 | g.40396128G>A | CA405896728 | PRX | c.2224C>T (p.Leu742Phe) c.1807C>T (p.Leu603Phe) c.2509C>T (p.Leu837Phe) c.2099C>T c.2085C>T c.2186C>T c.2111C>T c.*2429C>T (n.*2429C>T) c.2122C>T (p.Leu708Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40396128G>C | CA405896729 | PRX | c.2224C>G (p.Leu742Val) c.1807C>G (p.Leu603Val) c.2509C>G (p.Leu837Val) c.2099C>G c.2085C>G c.2186C>G c.2111C>G c.*2429C>G (n.*2429C>G) c.2122C>G (p.Leu708Val) | |
| 19 | g.40396128G= | CA2335961480 | PRX | c.2224C= (p.Leu742=) c.1807C= (p.Leu603=) c.2509C= (p.Leu837=) c.2099C= c.2085C= c.2186C= c.2111C= c.*2429C= (n.*2429C=) c.2122C= (p.Leu708=) | |
| 19 | g.40396128G>T | CA405896730 | PRX | c.2224C>A (p.Leu742Ile) c.1807C>A (p.Leu603Ile) c.2509C>A (p.Leu837Ile) c.2099C>A c.2085C>A c.2186C>A c.2111C>A c.*2429C>A (n.*2429C>A) c.2122C>A (p.Leu708Ile) | |
| 19 | g.40396129_40396131del | CA2335961479 | PRX | c.2222_2224del (p.His741del) c.1805_1807del (p.His602del) c.2507_2509del (p.His836del) c.2097_2099del c.2083_2085del c.2184_2186del c.2109_2111del c.*2427_*2429del (n.*2427_*2429del) c.2120_2122del (p.His707del) | dbSNP |
| 19 | g.40396129G>A | CA507679322 | PRX | c.2223C>T (p.His741=) c.1806C>T (p.His602=) c.2508C>T (p.His836=) c.2098C>T c.2084C>T c.2185C>T c.2110C>T c.*2428C>T (n.*2428C>T) c.2121C>T (p.His707=) | dbSNP gnomAD v4 |
| 19 | g.40396129G>C | CA405896731 | PRX | c.2223C>G (p.His741Gln) c.1806C>G (p.His602Gln) c.2508C>G (p.His836Gln) c.2098C>G c.2084C>G c.2185C>G c.2110C>G c.*2428C>G (n.*2428C>G) c.2121C>G (p.His707Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396129G= | CA2335961481 | PRX | c.2223C= (p.His741=) c.1806C= (p.His602=) c.2508C= (p.His836=) c.2098C= c.2084C= c.2185C= c.2110C= c.*2428C= (n.*2428C=) c.2121C= (p.His707=) | |
| 19 | g.40396129G>T | CA405896732 | PRX | c.2223C>A (p.His741Gln) c.1806C>A (p.His602Gln) c.2508C>A (p.His836Gln) c.2098C>A c.2084C>A c.2185C>A c.2110C>A c.*2428C>A (n.*2428C>A) c.2121C>A (p.His707Gln) | gnomAD v3 gnomAD v4 |