| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 19 | g.40396130T>A | CA405896735 | PRX | c.2222A>T (p.His741Leu) c.1805A>T (p.His602Leu) c.2507A>T (p.His836Leu) c.2097A>T c.2083A>T c.2184A>T c.2109A>T c.*2427A>T (n.*2427A>T) c.2120A>T (p.His707Leu) | |
| 19 | g.40396130T>C | CA405896734 | PRX | c.2222A>G (p.His741Arg) c.1805A>G (p.His602Arg) c.2507A>G (p.His836Arg) c.2097A>G c.2083A>G c.2184A>G c.2109A>G c.*2427A>G (n.*2427A>G) c.2120A>G (p.His707Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396130T>G | CA405896733 | PRX | c.2222A>C (p.His741Pro) c.1805A>C (p.His602Pro) c.2507A>C (p.His836Pro) c.2097A>C c.2083A>C c.2184A>C c.2109A>C c.*2427A>C (n.*2427A>C) c.2120A>C (p.His707Pro) | dbSNP |
| 19 | g.40396130T= | CA2335961482 | PRX | c.2222A= (p.His741=) c.1805A= (p.His602=) c.2507A= (p.His836=) c.2097A= c.2083A= c.2184A= c.2109A= c.*2427A= (n.*2427A=) c.2120A= (p.His707=) | |
| 19 | g.40396131G>A | CA405896736 | PRX | c.2221C>T (p.His741Tyr) c.1804C>T (p.His602Tyr) c.2506C>T (p.His836Tyr) c.2096C>T c.2082C>T c.2183C>T c.2108C>T c.*2426C>T (n.*2426C>T) c.2119C>T (p.His707Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396131G>C | CA405896737 | PRX | c.2221C>G (p.His741Asp) c.1804C>G (p.His602Asp) c.2506C>G (p.His836Asp) c.2096C>G c.2082C>G c.2183C>G c.2108C>G c.*2426C>G (n.*2426C>G) c.2119C>G (p.His707Asp) | |
| 19 | g.40396131G= | CA2335961483 | PRX | c.2221C= (p.His741=) c.1804C= (p.His602=) c.2506C= (p.His836=) c.2096C= c.2082C= c.2183C= c.2108C= c.*2426C= (n.*2426C=) c.2119C= (p.His707=) | |
| 19 | g.40396131G>T | CA405896738 | PRX | c.2221C>A (p.His741Asn) c.1804C>A (p.His602Asn) c.2506C>A (p.His836Asn) c.2096C>A c.2082C>A c.2183C>A c.2108C>A c.*2426C>A (n.*2426C>A) c.2119C>A (p.His707Asn) | dbSNP |
| 19 | g.40396132C>A | CA507679326 | PRX | c.2220G>T (p.Val740=) c.1803G>T (p.Val601=) c.2505G>T (p.Val835=) c.2095G>T c.2081G>T c.2182G>T c.2107G>T c.*2425G>T (n.*2425G>T) c.2118G>T (p.Val706=) | gnomAD v3 gnomAD v4 |
| 19 | g.40396132C>G | CA507679327 | PRX | c.2220G>C (p.Val740=) c.1803G>C (p.Val601=) c.2505G>C (p.Val835=) c.2095G>C c.2081G>C c.2182G>C c.2107G>C c.*2425G>C (n.*2425G>C) c.2118G>C (p.Val706=) | |
| 19 | g.40396132C>T | CA507679328 | PRX | c.2220G>A (p.Val740=) c.1803G>A (p.Val601=) c.2505G>A (p.Val835=) c.2095G>A c.2081G>A c.2182G>A c.2107G>A c.*2425G>A (n.*2425G>A) c.2118G>A (p.Val706=) | |
| 19 | g.40396133A>C | CA405896739 | PRX | c.2219T>G (p.Val740Gly) c.1802T>G (p.Val601Gly) c.2504T>G (p.Val835Gly) c.2094T>G c.2080T>G c.2181T>G c.2106T>G c.*2424T>G (n.*2424T>G) c.2117T>G (p.Val706Gly) | gnomAD v4 |
| 19 | g.40396133A>G | CA405896740 | PRX | c.2219T>C (p.Val740Ala) c.1802T>C (p.Val601Ala) c.2504T>C (p.Val835Ala) c.2094T>C c.2080T>C c.2181T>C c.2106T>C c.*2424T>C (n.*2424T>C) c.2117T>C (p.Val706Ala) | |
| 19 | g.40396133A>T | CA405896741 | PRX | c.2219T>A (p.Val740Glu) c.1802T>A (p.Val601Glu) c.2504T>A (p.Val835Glu) c.2094T>A c.2080T>A c.2181T>A c.2106T>A c.*2424T>A (n.*2424T>A) c.2117T>A (p.Val706Glu) | |
| 19 | g.40396134C>A | CA405896742 | PRX | c.2218G>T (p.Val740Leu) c.1801G>T (p.Val601Leu) c.2503G>T (p.Val835Leu) c.2093G>T c.2079G>T c.2180G>T c.2105G>T c.*2423G>T (n.*2423G>T) c.2116G>T (p.Val706Leu) | COSMIC |
| 19 | g.40396134C= | CA2335961484 | PRX | c.2218G= (p.Val740=) c.1801G= (p.Val601=) c.2503G= (p.Val835=) c.2093G= c.2079G= c.2180G= c.2105G= c.*2423G= (n.*2423G=) c.2116G= (p.Val706=) | |
| 19 | g.40396134C>G | CA405896744 | PRX | c.2218G>C (p.Val740Leu) c.1801G>C (p.Val601Leu) c.2503G>C (p.Val835Leu) c.2093G>C c.2079G>C c.2180G>C c.2105G>C c.*2423G>C (n.*2423G>C) c.2116G>C (p.Val706Leu) | |
| 19 | g.40396134C>T | CA405896743 | PRX | c.2218G>A (p.Val740Met) c.1801G>A (p.Val601Met) c.2503G>A (p.Val835Met) c.2093G>A c.2079G>A c.2180G>A c.2105G>A c.*2423G>A (n.*2423G>A) c.2116G>A (p.Val706Met) | dbSNP gnomAD v4 |
| 19 | g.40396135A= | CA2335961485 | PRX | c.2217T= (p.Asp739=) c.1800T= (p.Asp600=) c.2502T= (p.Asp834=) c.2092T= c.2078T= c.2179T= c.2104T= c.*2422T= (n.*2422T=) c.2115T= (p.Asp705=) | |
| 19 | g.40396135A>C | CA405896745 | PRX | c.2217T>G (p.Asp739Glu) c.1800T>G (p.Asp600Glu) c.2502T>G (p.Asp834Glu) c.2092T>G c.2078T>G c.2179T>G c.2104T>G c.*2422T>G (n.*2422T>G) c.2115T>G (p.Asp705Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396135A>G | CA9444108 | PRX | c.2217T>C (p.Asp739=) c.1800T>C (p.Asp600=) c.2502T>C (p.Asp834=) c.2092T>C c.2078T>C c.2179T>C c.2104T>C c.*2422T>C (n.*2422T>C) c.2115T>C (p.Asp705=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40396135A>T | CA405896746 | PRX | c.2217T>A (p.Asp739Glu) c.1800T>A (p.Asp600Glu) c.2502T>A (p.Asp834Glu) c.2092T>A c.2078T>A c.2179T>A c.2104T>A c.*2422T>A (n.*2422T>A) c.2115T>A (p.Asp705Glu) | |
| 19 | g.40396136T>A | CA405896747 | PRX | c.2216A>T (p.Asp739Val) c.1799A>T (p.Asp600Val) c.2501A>T (p.Asp834Val) c.2091A>T c.2077A>T c.2178A>T c.2103A>T c.*2421A>T (n.*2421A>T) c.2114A>T (p.Asp705Val) | |
| 19 | g.40396136T>C | CA405896748 | PRX | c.2216A>G (p.Asp739Gly) c.1799A>G (p.Asp600Gly) c.2501A>G (p.Asp834Gly) c.2091A>G c.2077A>G c.2178A>G c.2103A>G c.*2421A>G (n.*2421A>G) c.2114A>G (p.Asp705Gly) | |
| 19 | g.40396136T>G | CA405896749 | PRX | c.2216A>C (p.Asp739Ala) c.1799A>C (p.Asp600Ala) c.2501A>C (p.Asp834Ala) c.2091A>C c.2077A>C c.2178A>C c.2103A>C c.*2421A>C (n.*2421A>C) c.2114A>C (p.Asp705Ala) | |
| 19 | g.40396137C>A | CA405896750 | PRX | c.2215G>T (p.Asp739Tyr) c.1798G>T (p.Asp600Tyr) c.2500G>T (p.Asp834Tyr) c.2090G>T c.2076G>T c.2177G>T c.2102G>T c.*2420G>T (n.*2420G>T) c.2113G>T (p.Asp705Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40396137C= | CA2335961486 | PRX | c.2215G= (p.Asp739=) c.1798G= (p.Asp600=) c.2500G= (p.Asp834=) c.2090G= c.2076G= c.2177G= c.2102G= c.*2420G= (n.*2420G=) c.2113G= (p.Asp705=) | |
| 19 | g.40396137C>G | CA9444110 | PRX | c.2215G>C (p.Asp739His) c.1798G>C (p.Asp600His) c.2500G>C (p.Asp834His) c.2090G>C c.2076G>C c.2177G>C c.2102G>C c.*2420G>C (n.*2420G>C) c.2113G>C (p.Asp705His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396137C>T | CA9444109 | PRX | c.2215G>A (p.Asp739Asn) c.1798G>A (p.Asp600Asn) c.2500G>A (p.Asp834Asn) c.2090G>A c.2076G>A c.2177G>A c.2102G>A c.*2420G>A (n.*2420G>A) c.2113G>A (p.Asp705Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396138G>A | CA9444111 | PRX | c.2214C>T (p.Pro738=) c.1797C>T (p.Pro599=) c.2499C>T (p.Pro833=) c.2089C>T c.2075C>T c.2176C>T c.2101C>T c.*2419C>T (n.*2419C>T) c.2112C>T (p.Pro704=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396138G>C | CA507679331 | PRX | c.2214C>G (p.Pro738=) c.1797C>G (p.Pro599=) c.2499C>G (p.Pro833=) c.2089C>G c.2075C>G c.2176C>G c.2101C>G c.*2419C>G (n.*2419C>G) c.2112C>G (p.Pro704=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396138G= | CA2335961487 | PRX | c.2214C= (p.Pro738=) c.1797C= (p.Pro599=) c.2499C= (p.Pro833=) c.2089C= c.2075C= c.2176C= c.2101C= c.*2419C= (n.*2419C=) c.2112C= (p.Pro704=) | |
| 19 | g.40396138G>T | CA507679330 | PRX | c.2214C>A (p.Pro738=) c.1797C>A (p.Pro599=) c.2499C>A (p.Pro833=) c.2089C>A c.2075C>A c.2176C>A c.2101C>A c.*2419C>A (n.*2419C>A) c.2112C>A (p.Pro704=) | gnomAD v3 gnomAD v4 |
| 19 | g.40396140dup | CA308419600 | PRX | c.2214dup (p.Asp739ArgfsTer?) c.1797dup (p.Asp600ArgfsTer?) c.2499dup (p.Asp834ArgfsTer?) c.2089dup c.2075dup c.2176dup c.2101dup c.*2419dup (n.*2419dup) c.2112dup (p.Asp705ArgfsTer?) | dbSNP |
| 19 | g.40396139G>A | CA405896752 | PRX | c.2213C>T (p.Pro738Leu) c.1796C>T (p.Pro599Leu) c.2498C>T (p.Pro833Leu) c.2088C>T c.2074C>T c.2175C>T c.2100C>T c.*2418C>T (n.*2418C>T) c.2111C>T (p.Pro704Leu) | |
| 19 | g.40396139G>C | CA405896753 | PRX | c.2213C>G (p.Pro738Arg) c.1796C>G (p.Pro599Arg) c.2498C>G (p.Pro833Arg) c.2088C>G c.2074C>G c.2175C>G c.2100C>G c.*2418C>G (n.*2418C>G) c.2111C>G (p.Pro704Arg) | |
| 19 | g.40396139G>T | CA405896751 | PRX | c.2213C>A (p.Pro738His) c.1796C>A (p.Pro599His) c.2498C>A (p.Pro833His) c.2088C>A c.2074C>A c.2175C>A c.2100C>A c.*2418C>A (n.*2418C>A) c.2111C>A (p.Pro704His) | |
| 19 | g.40396158_40396343dup | CA2573156370 | PRX | c.2028_2213dup (p.Pro738_Asp739insGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValPro) c.1611_1796dup (p.Pro599_Asp600insGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValPro) c.2313_2498dup (p.Pro833_Asp834insGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValPro) c.1903_2088dup c.1889_2074dup c.1990_2175dup c.1915_2100dup c.*2233_*2418dup (n.*2233_*2418dup) c.1926_2111dup (p.Pro704_Asp705insGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValPro) | ClinVar dbSNP |
| 19 | g.40396140G>A | CA405896754 | PRX | c.2212C>T (p.Pro738Ser) c.1795C>T (p.Pro599Ser) c.2497C>T (p.Pro833Ser) c.2087C>T c.2073C>T c.2174C>T c.2099C>T c.*2417C>T (n.*2417C>T) c.2110C>T (p.Pro704Ser) | |
| 19 | g.40396140G>C | CA405896755 | PRX | c.2212C>G (p.Pro738Ala) c.1795C>G (p.Pro599Ala) c.2497C>G (p.Pro833Ala) c.2087C>G c.2073C>G c.2174C>G c.2099C>G c.*2417C>G (n.*2417C>G) c.2110C>G (p.Pro704Ala) | gnomAD v4 |
| 19 | g.40396140G>T | CA405896756 | PRX | c.2212C>A (p.Pro738Thr) c.1795C>A (p.Pro599Thr) c.2497C>A (p.Pro833Thr) c.2087C>A c.2073C>A c.2174C>A c.2099C>A c.*2417C>A (n.*2417C>A) c.2110C>A (p.Pro704Thr) | |
| 19 | g.40396141C>A | CA507679333 | PRX | c.2211G>T (p.Val737=) c.1794G>T (p.Val598=) c.2496G>T (p.Val832=) c.2086G>T c.2072G>T c.2173G>T c.2098G>T c.*2416G>T (n.*2416G>T) c.2109G>T (p.Val703=) | |
| 19 | g.40396141C= | CA2335961488 | PRX | c.2211G= (p.Val737=) c.1794G= (p.Val598=) c.2496G= (p.Val832=) c.2086G= c.2072G= c.2173G= c.2098G= c.*2416G= (n.*2416G=) c.2109G= (p.Val703=) | |
| 19 | g.40396141C>G | CA507679334 | PRX | c.2211G>C (p.Val737=) c.1794G>C (p.Val598=) c.2496G>C (p.Val832=) c.2086G>C c.2072G>C c.2173G>C c.2098G>C c.*2416G>C (n.*2416G>C) c.2109G>C (p.Val703=) | |
| 19 | g.40396141C>T | CA507679335 | PRX | c.2211G>A (p.Val737=) c.1794G>A (p.Val598=) c.2496G>A (p.Val832=) c.2086G>A c.2072G>A c.2173G>A c.2098G>A c.*2416G>A (n.*2416G>A) c.2109G>A (p.Val703=) | dbSNP gnomAD v2 |
| 19 | g.40396142A>C | CA405896757 | PRX | c.2210T>G (p.Val737Gly) c.1793T>G (p.Val598Gly) c.2495T>G (p.Val832Gly) c.2085T>G c.2071T>G c.2172T>G c.2097T>G c.*2415T>G (n.*2415T>G) c.2108T>G (p.Val703Gly) | |
| 19 | g.40396142A>G | CA405896758 | PRX | c.2210T>C (p.Val737Ala) c.1793T>C (p.Val598Ala) c.2495T>C (p.Val832Ala) c.2085T>C c.2071T>C c.2172T>C c.2097T>C c.*2415T>C (n.*2415T>C) c.2108T>C (p.Val703Ala) | |
| 19 | g.40396142A>T | CA405896759 | PRX | c.2210T>A (p.Val737Glu) c.1793T>A (p.Val598Glu) c.2495T>A (p.Val832Glu) c.2085T>A c.2071T>A c.2172T>A c.2097T>A c.*2415T>A (n.*2415T>A) c.2108T>A (p.Val703Glu) | |
| 19 | g.40396143C>A | CA405896762 | PRX | c.2209G>T (p.Val737Leu) c.1792G>T (p.Val598Leu) c.2494G>T (p.Val832Leu) c.2084G>T c.2070G>T c.2171G>T c.2096G>T c.*2414G>T (n.*2414G>T) c.2107G>T (p.Val703Leu) | |
| 19 | g.40396143C= | CA2335961489 | PRX | c.2209G= (p.Val737=) c.1792G= (p.Val598=) c.2494G= (p.Val832=) c.2084G= c.2070G= c.2171G= c.2096G= c.*2414G= (n.*2414G=) c.2107G= (p.Val703=) | |
| 19 | g.40396143C>G | CA405896760 | PRX | c.2209G>C (p.Val737Leu) c.1792G>C (p.Val598Leu) c.2494G>C (p.Val832Leu) c.2084G>C c.2070G>C c.2171G>C c.2096G>C c.*2414G>C (n.*2414G>C) c.2107G>C (p.Val703Leu) | |
| 19 | g.40396143C>T | CA405896761 | PRX | c.2209G>A (p.Val737Met) c.1792G>A (p.Val598Met) c.2494G>A (p.Val832Met) c.2084G>A c.2070G>A c.2171G>A c.2096G>A c.*2414G>A (n.*2414G>A) c.2107G>A (p.Val703Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396144A= | CA2335961490 | PRX | c.2208T= (p.Ala736=) c.1791T= (p.Ala597=) c.2493T= (p.Ala831=) c.2083T= c.2069T= c.2170T= c.2095T= c.*2413T= (n.*2413T=) c.2106T= (p.Ala702=) | |
| 19 | g.40396144A>C | CA507679338 | PRX | c.2208T>G (p.Ala736=) c.1791T>G (p.Ala597=) c.2493T>G (p.Ala831=) c.2083T>G c.2069T>G c.2170T>G c.2095T>G c.*2413T>G (n.*2413T>G) c.2106T>G (p.Ala702=) | |
| 19 | g.40396144A>G | CA507679340 | PRX | c.2208T>C (p.Ala736=) c.1791T>C (p.Ala597=) c.2493T>C (p.Ala831=) c.2083T>C c.2069T>C c.2170T>C c.2095T>C c.*2413T>C (n.*2413T>C) c.2106T>C (p.Ala702=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396144A>T | CA507679342 | PRX | c.2208T>A (p.Ala736=) c.1791T>A (p.Ala597=) c.2493T>A (p.Ala831=) c.2083T>A c.2069T>A c.2170T>A c.2095T>A c.*2413T>A (n.*2413T>A) c.2106T>A (p.Ala702=) | |
| 19 | g.40396145G>A | CA405896763 | PRX | c.2207C>T (p.Ala736Val) c.1790C>T (p.Ala597Val) c.2492C>T (p.Ala831Val) c.2082C>T c.2068C>T c.2169C>T c.2094C>T c.*2412C>T (n.*2412C>T) c.2105C>T (p.Ala702Val) | |
| 19 | g.40396145G>C | CA405896764 | PRX | c.2207C>G (p.Ala736Gly) c.1790C>G (p.Ala597Gly) c.2492C>G (p.Ala831Gly) c.2082C>G c.2068C>G c.2169C>G c.2094C>G c.*2412C>G (n.*2412C>G) c.2105C>G (p.Ala702Gly) | |
| 19 | g.40396145G>T | CA405896765 | PRX | c.2207C>A (p.Ala736Asp) c.1790C>A (p.Ala597Asp) c.2492C>A (p.Ala831Asp) c.2082C>A c.2068C>A c.2169C>A c.2094C>A c.*2412C>A (n.*2412C>A) c.2105C>A (p.Ala702Asp) | |
| 19 | g.40396146C>A | CA405896766 | PRX | c.2206G>T (p.Ala736Ser) c.1789G>T (p.Ala597Ser) c.2491G>T (p.Ala831Ser) c.2081G>T c.2067G>T c.2168G>T c.2093G>T c.*2411G>T (n.*2411G>T) c.2104G>T (p.Ala702Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40396146C= | CA2335961491 | PRX | c.2206G= (p.Ala736=) c.1789G= (p.Ala597=) c.2491G= (p.Ala831=) c.2081G= c.2067G= c.2168G= c.2093G= c.*2411G= (n.*2411G=) c.2104G= (p.Ala702=) | |
| 19 | g.40396146C>G | CA405896767 | PRX | c.2206G>C (p.Ala736Pro) c.1789G>C (p.Ala597Pro) c.2491G>C (p.Ala831Pro) c.2081G>C c.2067G>C c.2168G>C c.2093G>C c.*2411G>C (n.*2411G>C) c.2104G>C (p.Ala702Pro) | |
| 19 | g.40396146C>T | CA405896768 | PRX | c.2206G>A (p.Ala736Thr) c.1789G>A (p.Ala597Thr) c.2491G>A (p.Ala831Thr) c.2081G>A c.2067G>A c.2168G>A c.2093G>A c.*2411G>A (n.*2411G>A) c.2104G>A (p.Ala702Thr) | |
| 19 | g.40396147C>A | CA405896769 | PRX | c.2205G>T (p.Met735Ile) c.1788G>T (p.Met596Ile) c.2490G>T (p.Met830Ile) c.2080G>T c.2066G>T c.2167G>T c.2092G>T c.*2410G>T (n.*2410G>T) c.2103G>T (p.Met701Ile) | |
| 19 | g.40396147C>G | CA405896771 | PRX | c.2205G>C (p.Met735Ile) c.1788G>C (p.Met596Ile) c.2490G>C (p.Met830Ile) c.2080G>C c.2066G>C c.2167G>C c.2092G>C c.*2410G>C (n.*2410G>C) c.2103G>C (p.Met701Ile) | |
| 19 | g.40396147C>T | CA405896770 | PRX | c.2205G>A (p.Met735Ile) c.1788G>A (p.Met596Ile) c.2490G>A (p.Met830Ile) c.2080G>A c.2066G>A c.2167G>A c.2092G>A c.*2410G>A (n.*2410G>A) c.2103G>A (p.Met701Ile) | |
| 19 | g.40396148A>C | CA405896772 | PRX | c.2204T>G (p.Met735Arg) c.1787T>G (p.Met596Arg) c.2489T>G (p.Met830Arg) c.2079T>G c.2065T>G c.2166T>G c.2091T>G c.*2409T>G (n.*2409T>G) c.2102T>G (p.Met701Arg) | |
| 19 | g.40396148A>G | CA405896773 | PRX | c.2204T>C (p.Met735Thr) c.1787T>C (p.Met596Thr) c.2489T>C (p.Met830Thr) c.2079T>C c.2065T>C c.2166T>C c.2091T>C c.*2409T>C (n.*2409T>C) c.2102T>C (p.Met701Thr) | |
| 19 | g.40396148A>T | CA405896774 | PRX | c.2204T>A (p.Met735Lys) c.1787T>A (p.Met596Lys) c.2489T>A (p.Met830Lys) c.2079T>A c.2065T>A c.2166T>A c.2091T>A c.*2409T>A (n.*2409T>A) c.2102T>A (p.Met701Lys) | |
| 19 | g.40396149T>A | CA405896775 | PRX | c.2203A>T (p.Met735Leu) c.1786A>T (p.Met596Leu) c.2488A>T (p.Met830Leu) c.2078A>T c.2064A>T c.2165A>T c.2090A>T c.*2408A>T (n.*2408A>T) c.2101A>T (p.Met701Leu) | |
| 19 | g.40396149T>C | CA405896776 | PRX | c.2203A>G (p.Met735Val) c.1786A>G (p.Met596Val) c.2488A>G (p.Met830Val) c.2078A>G c.2064A>G c.2165A>G c.2090A>G c.*2408A>G (n.*2408A>G) c.2101A>G (p.Met701Val) | |
| 19 | g.40396149T>G | CA405896777 | PRX | c.2203A>C (p.Met735Leu) c.1786A>C (p.Met596Leu) c.2488A>C (p.Met830Leu) c.2078A>C c.2064A>C c.2165A>C c.2090A>C c.*2408A>C (n.*2408A>C) c.2101A>C (p.Met701Leu) | |
| 19 | g.40396150C>A | CA405896778 | PRX | c.2202G>T (p.Glu734Asp) c.1785G>T (p.Glu595Asp) c.2487G>T (p.Glu829Asp) c.2077G>T c.2063G>T c.2164G>T c.2089G>T c.*2407G>T (n.*2407G>T) c.2100G>T (p.Glu700Asp) | |
| 19 | g.40396150C= | CA2335961492 | PRX | c.2202G= (p.Glu734=) c.1785G= (p.Glu595=) c.2487G= (p.Glu829=) c.2077G= c.2063G= c.2164G= c.2089G= c.*2407G= (n.*2407G=) c.2100G= (p.Glu700=) | |
| 19 | g.40396150C>G | CA405896779 | PRX | c.2202G>C (p.Glu734Asp) c.1785G>C (p.Glu595Asp) c.2487G>C (p.Glu829Asp) c.2077G>C c.2063G>C c.2164G>C c.2089G>C c.*2407G>C (n.*2407G>C) c.2100G>C (p.Glu700Asp) | gnomAD v4 |
| 19 | g.40396150C>T | CA9444112 | PRX | c.2202G>A (p.Glu734=) c.1785G>A (p.Glu595=) c.2487G>A (p.Glu829=) c.2077G>A c.2063G>A c.2164G>A c.2089G>A c.*2407G>A (n.*2407G>A) c.2100G>A (p.Glu700=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396151T>A | CA405896780 | PRX | c.2201A>T (p.Glu734Val) c.1784A>T (p.Glu595Val) c.2486A>T (p.Glu829Val) c.2076A>T c.2062A>T c.2163A>T c.2088A>T c.*2406A>T (n.*2406A>T) c.2099A>T (p.Glu700Val) | |
| 19 | g.40396151T>C | CA405896781 | PRX | c.2201A>G (p.Glu734Gly) c.1784A>G (p.Glu595Gly) c.2486A>G (p.Glu829Gly) c.2076A>G c.2062A>G c.2163A>G c.2088A>G c.*2406A>G (n.*2406A>G) c.2099A>G (p.Glu700Gly) | |
| 19 | g.40396151T>G | CA405896782 | PRX | c.2201A>C (p.Glu734Ala) c.1784A>C (p.Glu595Ala) c.2486A>C (p.Glu829Ala) c.2076A>C c.2062A>C c.2163A>C c.2088A>C c.*2406A>C (n.*2406A>C) c.2099A>C (p.Glu700Ala) | |
| 19 | g.40396171_40396278del | CA995889314 | PRX | c.2094_2201del (p.Met699_Glu734del) c.1677_1784del (p.Met560_Glu595del) c.2379_2486del (p.Met794_Glu829del) c.1969_2076del c.1955_2062del c.2056_2163del c.1981_2088del c.*2299_*2406del (n.*2299_*2406del) c.1992_2099del (p.Met665_Glu700del) | gnomAD v3 gnomAD v4 |
| 19 | g.40396152C>A | CA405896785 | PRX | c.2200G>T (p.Glu734Ter) c.1783G>T (p.Glu595Ter) c.2485G>T (p.Glu829Ter) c.2075G>T c.2061G>T c.2162G>T c.2087G>T c.*2405G>T (n.*2405G>T) c.2098G>T (p.Glu700Ter) | |
| 19 | g.40396152C>G | CA405896783 | PRX | c.2200G>C (p.Glu734Gln) c.1783G>C (p.Glu595Gln) c.2485G>C (p.Glu829Gln) c.2075G>C c.2061G>C c.2162G>C c.2087G>C c.*2405G>C (n.*2405G>C) c.2098G>C (p.Glu700Gln) | |
| 19 | g.40396152C>T | CA405896784 | PRX | c.2200G>A (p.Glu734Lys) c.1783G>A (p.Glu595Lys) c.2485G>A (p.Glu829Lys) c.2075G>A c.2061G>A c.2162G>A c.2087G>A c.*2405G>A (n.*2405G>A) c.2098G>A (p.Glu700Lys) | gnomAD v4 |
| 19 | g.40396153del | CA2585127081 | PRX | c.2199del (p.Glu734ArgfsTer?) c.1782del (p.Glu595ArgfsTer?) c.2484del (p.Glu829ArgfsTer?) c.2074del c.2060del c.2161del c.2086del c.*2404del (n.*2404del) c.2097del (p.Glu700ArgfsTer?) | gnomAD v4 |
| 19 | g.40396153A= | CA2335961493 | PRX | c.2199T= (p.Pro733=) c.1782T= (p.Pro594=) c.2484T= (p.Pro828=) c.2074T= c.2060T= c.2161T= c.2086T= c.*2404T= (n.*2404T=) c.2097T= (p.Pro699=) | |
| 19 | g.40396153A>C | CA507679350 | PRX | c.2199T>G (p.Pro733=) c.1782T>G (p.Pro594=) c.2484T>G (p.Pro828=) c.2074T>G c.2060T>G c.2161T>G c.2086T>G c.*2404T>G (n.*2404T>G) c.2097T>G (p.Pro699=) | |
| 19 | g.40396153A>G | CA507679352 | PRX | c.2199T>C (p.Pro733=) c.1782T>C (p.Pro594=) c.2484T>C (p.Pro828=) c.2074T>C c.2060T>C c.2161T>C c.2086T>C c.*2404T>C (n.*2404T>C) c.2097T>C (p.Pro699=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.40396153A>T | CA507679354 | PRX | c.2199T>A (p.Pro733=) c.1782T>A (p.Pro594=) c.2484T>A (p.Pro828=) c.2074T>A c.2060T>A c.2161T>A c.2086T>A c.*2404T>A (n.*2404T>A) c.2097T>A (p.Pro699=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396154G>A | CA405896786 | PRX | c.2198C>T (p.Pro733Leu) c.1781C>T (p.Pro594Leu) c.2483C>T (p.Pro828Leu) c.2073C>T c.2059C>T c.2160C>T c.2085C>T c.*2403C>T (n.*2403C>T) c.2096C>T (p.Pro699Leu) | gnomAD v4 |
| 19 | g.40396154G>C | CA405896787 | PRX | c.2198C>G (p.Pro733Arg) c.1781C>G (p.Pro594Arg) c.2483C>G (p.Pro828Arg) c.2073C>G c.2059C>G c.2160C>G c.2085C>G c.*2403C>G (n.*2403C>G) c.2096C>G (p.Pro699Arg) | |
| 19 | g.40396154G>T | CA405896788 | PRX | c.2198C>A (p.Pro733His) c.1781C>A (p.Pro594His) c.2483C>A (p.Pro828His) c.2073C>A c.2059C>A c.2160C>A c.2085C>A c.*2403C>A (n.*2403C>A) c.2096C>A (p.Pro699His) | |
| 19 | g.40396155G>A | CA405896789 | PRX | c.2197C>T (p.Pro733Ser) c.1780C>T (p.Pro594Ser) c.2482C>T (p.Pro828Ser) c.2072C>T c.2058C>T c.2159C>T c.2084C>T c.*2402C>T (n.*2402C>T) c.2095C>T (p.Pro699Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396155G>C | CA405896790 | PRX | c.2197C>G (p.Pro733Ala) c.1780C>G (p.Pro594Ala) c.2482C>G (p.Pro828Ala) c.2072C>G c.2058C>G c.2159C>G c.2084C>G c.*2402C>G (n.*2402C>G) c.2095C>G (p.Pro699Ala) | |
| 19 | g.40396155G= | CA2335961494 | PRX | c.2197C= (p.Pro733=) c.1780C= (p.Pro594=) c.2482C= (p.Pro828=) c.2072C= c.2058C= c.2159C= c.2084C= c.*2402C= (n.*2402C=) c.2095C= (p.Pro699=) | |
| 19 | g.40396155G>T | CA405896791 | PRX | c.2197C>A (p.Pro733Thr) c.1780C>A (p.Pro594Thr) c.2482C>A (p.Pro828Thr) c.2072C>A c.2058C>A c.2159C>A c.2084C>A c.*2402C>A (n.*2402C>A) c.2095C>A (p.Pro699Thr) | gnomAD v4 |
| 19 | g.40396156C>A | CA507679355 | PRX | c.2196G>T (p.Val732=) c.1779G>T (p.Val593=) c.2481G>T (p.Val827=) c.2071G>T c.2057G>T c.2158G>T c.2083G>T c.*2401G>T (n.*2401G>T) c.2094G>T (p.Val698=) | |
| 19 | g.40396156C= | CA2335961495 | PRX | c.2196G= (p.Val732=) c.1779G= (p.Val593=) c.2481G= (p.Val827=) c.2071G= c.2057G= c.2158G= c.2083G= c.*2401G= (n.*2401G=) c.2094G= (p.Val698=) | |
| 19 | g.40396156C>G | CA507679356 | PRX | c.2196G>C (p.Val732=) c.1779G>C (p.Val593=) c.2481G>C (p.Val827=) c.2071G>C c.2057G>C c.2158G>C c.2083G>C c.*2401G>C (n.*2401G>C) c.2094G>C (p.Val698=) | |
| 19 | g.40396156C>T | CA507679357 | PRX | c.2196G>A (p.Val732=) c.1779G>A (p.Val593=) c.2481G>A (p.Val827=) c.2071G>A c.2057G>A c.2158G>A c.2083G>A c.*2401G>A (n.*2401G>A) c.2094G>A (p.Val698=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40396157A= | CA2335961496 | PRX | c.2195T= (p.Val732=) c.1778T= (p.Val593=) c.2480T= (p.Val827=) c.2070T= c.2056T= c.2157T= c.2082T= c.*2400T= (n.*2400T=) c.2093T= (p.Val698=) | |
| 19 | g.40396157A>C | CA405896794 | PRX | c.2195T>G (p.Val732Gly) c.1778T>G (p.Val593Gly) c.2480T>G (p.Val827Gly) c.2070T>G c.2056T>G c.2157T>G c.2082T>G c.*2400T>G (n.*2400T>G) c.2093T>G (p.Val698Gly) | |
| 19 | g.40396157A>G | CA405896792 | PRX | c.2195T>C (p.Val732Ala) c.1778T>C (p.Val593Ala) c.2480T>C (p.Val827Ala) c.2070T>C c.2056T>C c.2157T>C c.2082T>C c.*2400T>C (n.*2400T>C) c.2093T>C (p.Val698Ala) | dbSNP |
| 19 | g.40396157A>T | CA405896793 | PRX | c.2195T>A (p.Val732Glu) c.1778T>A (p.Val593Glu) c.2480T>A (p.Val827Glu) c.2070T>A c.2056T>A c.2157T>A c.2082T>A c.*2400T>A (n.*2400T>A) c.2093T>A (p.Val698Glu) | gnomAD v4 |
| 19 | g.40396158C>A | CA405896795 | PRX | c.2194G>T (p.Val732Leu) c.1777G>T (p.Val593Leu) c.2479G>T (p.Val827Leu) c.2069G>T c.2055G>T c.2156G>T c.2081G>T c.*2399G>T (n.*2399G>T) c.2092G>T (p.Val698Leu) | gnomAD v4 |
| 19 | g.40396158C= | CA2335961497 | PRX | c.2194G= (p.Val732=) c.1777G= (p.Val593=) c.2479G= (p.Val827=) c.2069G= c.2055G= c.2156G= c.2081G= c.*2399G= (n.*2399G=) c.2092G= (p.Val698=) | |
| 19 | g.40396158C>G | CA405896796 | PRX | c.2194G>C (p.Val732Leu) c.1777G>C (p.Val593Leu) c.2479G>C (p.Val827Leu) c.2069G>C c.2055G>C c.2156G>C c.2081G>C c.*2399G>C (n.*2399G>C) c.2092G>C (p.Val698Leu) | |
| 19 | g.40396158C>T | CA405896797 | PRX | c.2194G>A (p.Val732Met) c.1777G>A (p.Val593Met) c.2479G>A (p.Val827Met) c.2069G>A c.2055G>A c.2156G>A c.2081G>A c.*2399G>A (n.*2399G>A) c.2092G>A (p.Val698Met) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.40396159C>A | CA405896798 | PRX | c.2193G>T (p.Lys731Asn) c.1776G>T (p.Lys592Asn) c.2478G>T (p.Lys826Asn) c.2068G>T c.2054G>T c.2155G>T c.2080G>T c.*2398G>T (n.*2398G>T) c.2091G>T (p.Lys697Asn) | |
| 19 | g.40396159C>G | CA405896799 | PRX | c.2193G>C (p.Lys731Asn) c.1776G>C (p.Lys592Asn) c.2478G>C (p.Lys826Asn) c.2068G>C c.2054G>C c.2155G>C c.2080G>C c.*2398G>C (n.*2398G>C) c.2091G>C (p.Lys697Asn) | |
| 19 | g.40396159C>T | CA507679361 | PRX | c.2193G>A (p.Lys731=) c.1776G>A (p.Lys592=) c.2478G>A (p.Lys826=) c.2068G>A c.2054G>A c.2155G>A c.2080G>A c.*2398G>A (n.*2398G>A) c.2091G>A (p.Lys697=) | gnomAD v3 gnomAD v4 |
| 19 | g.40396160T>A | CA405896802 | PRX | c.2192A>T (p.Lys731Met) c.1775A>T (p.Lys592Met) c.2477A>T (p.Lys826Met) c.2067A>T c.2053A>T c.2154A>T c.2079A>T c.*2397A>T (n.*2397A>T) c.2090A>T (p.Lys697Met) | |
| 19 | g.40396160T>C | CA405896800 | PRX | c.2192A>G (p.Lys731Arg) c.1775A>G (p.Lys592Arg) c.2477A>G (p.Lys826Arg) c.2067A>G c.2053A>G c.2154A>G c.2079A>G c.*2397A>G (n.*2397A>G) c.2090A>G (p.Lys697Arg) | |
| 19 | g.40396160T>G | CA405896801 | PRX | c.2192A>C (p.Lys731Thr) c.1775A>C (p.Lys592Thr) c.2477A>C (p.Lys826Thr) c.2067A>C c.2053A>C c.2154A>C c.2079A>C c.*2397A>C (n.*2397A>C) c.2090A>C (p.Lys697Thr) | |
| 19 | g.40396160_40396161insAATCATTTTGGATTTCTTCCTT | CA2585127082 | PRX | c.2192_2193insAGGAAGAAATCCAAAATGATTA (p.Val732GlyfsTer6) c.1775_1776insAGGAAGAAATCCAAAATGATTA (p.Val593GlyfsTer6) c.2477_2478insAGGAAGAAATCCAAAATGATTA (p.Val827GlyfsTer6) c.2067_2068insAGGAAGAAATCCAAAATGATTA c.2053_2054insAGGAAGAAATCCAAAATGATTA c.2154_2155insAGGAAGAAATCCAAAATGATTA c.2079_2080insAGGAAGAAATCCAAAATGATTA c.*2397_*2398insAGGAAGAAATCCAAAATGATTA (n.*2397_*2398insAGGAAGAAATCCAAAATGATTA) c.2090_2091insAGGAAGAAATCCAAAATGATTA (p.Val698GlyfsTer6) | gnomAD v4 |
| 19 | g.40396161T>A | CA405896803 | PRX | c.2191A>T (p.Lys731Ter) c.1774A>T (p.Lys592Ter) c.2476A>T (p.Lys826Ter) c.2066A>T c.2052A>T c.2153A>T c.2078A>T c.*2396A>T (n.*2396A>T) c.2089A>T (p.Lys697Ter) | |
| 19 | g.40396161T>C | CA405896804 | PRX | c.2191A>G (p.Lys731Glu) c.1774A>G (p.Lys592Glu) c.2476A>G (p.Lys826Glu) c.2066A>G c.2052A>G c.2153A>G c.2078A>G c.*2396A>G (n.*2396A>G) c.2089A>G (p.Lys697Glu) | gnomAD v3 gnomAD v4 |
| 19 | g.40396161T>G | CA405896805 | PRX | c.2191A>C (p.Lys731Gln) c.1774A>C (p.Lys592Gln) c.2476A>C (p.Lys826Gln) c.2066A>C c.2052A>C c.2153A>C c.2078A>C c.*2396A>C (n.*2396A>C) c.2089A>C (p.Lys697Gln) | |
| 19 | g.40396162G>A | CA507679364 | PRX | c.2190C>T (p.Pro730=) c.1773C>T (p.Pro591=) c.2475C>T (p.Pro825=) c.2065C>T c.2051C>T c.2152C>T c.2077C>T c.*2395C>T (n.*2395C>T) c.2088C>T (p.Pro696=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396162G>C | CA507679365 | PRX | c.2190C>G (p.Pro730=) c.1773C>G (p.Pro591=) c.2475C>G (p.Pro825=) c.2065C>G c.2051C>G c.2152C>G c.2077C>G c.*2395C>G (n.*2395C>G) c.2088C>G (p.Pro696=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396162G= | CA2335961498 | PRX | c.2190C= (p.Pro730=) c.1773C= (p.Pro591=) c.2475C= (p.Pro825=) c.2065C= c.2051C= c.2152C= c.2077C= c.*2395C= (n.*2395C=) c.2088C= (p.Pro696=) | |
| 19 | g.40396162G>T | CA507679366 | PRX | c.2190C>A (p.Pro730=) c.1773C>A (p.Pro591=) c.2475C>A (p.Pro825=) c.2065C>A c.2051C>A c.2152C>A c.2077C>A c.*2395C>A (n.*2395C>A) c.2088C>A (p.Pro696=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396163G>A | CA405896806 | PRX | c.2189C>T (p.Pro730Leu) c.1772C>T (p.Pro591Leu) c.2474C>T (p.Pro825Leu) c.2064C>T c.2050C>T c.2151C>T c.2076C>T c.*2394C>T (n.*2394C>T) c.2087C>T (p.Pro696Leu) | dbSNP gnomAD v4 |
| 19 | g.40396163G>C | CA405896807 | PRX | c.2189C>G (p.Pro730Arg) c.1772C>G (p.Pro591Arg) c.2474C>G (p.Pro825Arg) c.2064C>G c.2050C>G c.2151C>G c.2076C>G c.*2394C>G (n.*2394C>G) c.2087C>G (p.Pro696Arg) | |
| 19 | g.40396163G= | CA2335961499 | PRX | c.2189C= (p.Pro730=) c.1772C= (p.Pro591=) c.2474C= (p.Pro825=) c.2064C= c.2050C= c.2151C= c.2076C= c.*2394C= (n.*2394C=) c.2087C= (p.Pro696=) | |
| 19 | g.40396163G>T | CA405896808 | PRX | c.2189C>A (p.Pro730His) c.1772C>A (p.Pro591His) c.2474C>A (p.Pro825His) c.2064C>A c.2050C>A c.2151C>A c.2076C>A c.*2394C>A (n.*2394C>A) c.2087C>A (p.Pro696His) |