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.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) | |
| 19 | g.40396164G>A | CA405896809 | PRX | c.2188C>T (p.Pro730Ser) c.1771C>T (p.Pro591Ser) c.2473C>T (p.Pro825Ser) c.2063C>T c.2049C>T c.2150C>T c.2075C>T c.*2393C>T (n.*2393C>T) c.2086C>T (p.Pro696Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396164G>C | CA405896810 | PRX | c.2188C>G (p.Pro730Ala) c.1771C>G (p.Pro591Ala) c.2473C>G (p.Pro825Ala) c.2063C>G c.2049C>G c.2150C>G c.2075C>G c.*2393C>G (n.*2393C>G) c.2086C>G (p.Pro696Ala) | |
| 19 | g.40396164G= | CA2335961500 | PRX | c.2188C= (p.Pro730=) c.1771C= (p.Pro591=) c.2473C= (p.Pro825=) c.2063C= c.2049C= c.2150C= c.2075C= c.*2393C= (n.*2393C=) c.2086C= (p.Pro696=) | |
| 19 | g.40396164G>T | CA405896811 | PRX | c.2188C>A (p.Pro730Thr) c.1771C>A (p.Pro591Thr) c.2473C>A (p.Pro825Thr) c.2063C>A c.2049C>A c.2150C>A c.2075C>A c.*2393C>A (n.*2393C>A) c.2086C>A (p.Pro696Thr) | |
| 19 | g.40396165G>A | CA507679367 | PRX | c.2187C>T (p.Leu729=) c.1770C>T (p.Leu590=) c.2472C>T (p.Leu824=) c.2062C>T c.2048C>T c.2149C>T c.2074C>T c.*2392C>T (n.*2392C>T) c.2085C>T (p.Leu695=) | |
| 19 | g.40396165G>C | CA507679368 | PRX | c.2187C>G (p.Leu729=) c.1770C>G (p.Leu590=) c.2472C>G (p.Leu824=) c.2062C>G c.2048C>G c.2149C>G c.2074C>G c.*2392C>G (n.*2392C>G) c.2085C>G (p.Leu695=) | |
| 19 | g.40396165G>T | CA507679369 | PRX | c.2187C>A (p.Leu729=) c.1770C>A (p.Leu590=) c.2472C>A (p.Leu824=) c.2062C>A c.2048C>A c.2149C>A c.2074C>A c.*2392C>A (n.*2392C>A) c.2085C>A (p.Leu695=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396166A>C | CA405896812 | PRX | c.2186T>G (p.Leu729Arg) c.1769T>G (p.Leu590Arg) c.2471T>G (p.Leu824Arg) c.2061T>G c.2047T>G c.2148T>G c.2073T>G c.*2391T>G (n.*2391T>G) c.2084T>G (p.Leu695Arg) | |
| 19 | g.40396166A>G | CA405896813 | PRX | c.2186T>C (p.Leu729Pro) c.1769T>C (p.Leu590Pro) c.2471T>C (p.Leu824Pro) c.2061T>C c.2047T>C c.2148T>C c.2073T>C c.*2391T>C (n.*2391T>C) c.2084T>C (p.Leu695Pro) | gnomAD v4 |
| 19 | g.40396166A>T | CA405896814 | PRX | c.2186T>A (p.Leu729His) c.1769T>A (p.Leu590His) c.2471T>A (p.Leu824His) c.2061T>A c.2047T>A c.2148T>A c.2073T>A c.*2391T>A (n.*2391T>A) c.2084T>A (p.Leu695His) | |
| 19 | g.40396167G>A | CA405896815 | PRX | c.2185C>T (p.Leu729Phe) c.1768C>T (p.Leu590Phe) c.2470C>T (p.Leu824Phe) c.2060C>T c.2046C>T c.2147C>T c.2072C>T c.*2390C>T (n.*2390C>T) c.2083C>T (p.Leu695Phe) | ClinVar dbSNP |
| 19 | g.40396167G>C | CA405896817 | PRX | c.2185C>G (p.Leu729Val) c.1768C>G (p.Leu590Val) c.2470C>G (p.Leu824Val) c.2060C>G c.2046C>G c.2147C>G c.2072C>G c.*2390C>G (n.*2390C>G) c.2083C>G (p.Leu695Val) | |
| 19 | g.40396167G= | CA2335961501 | PRX | c.2185C= (p.Leu729=) c.1768C= (p.Leu590=) c.2470C= (p.Leu824=) c.2060C= c.2046C= c.2147C= c.2072C= c.*2390C= (n.*2390C=) c.2083C= (p.Leu695=) | |
| 19 | g.40396167G>T | CA405896816 | PRX | c.2185C>A (p.Leu729Ile) c.1768C>A (p.Leu590Ile) c.2470C>A (p.Leu824Ile) c.2060C>A c.2046C>A c.2147C>A c.2072C>A c.*2390C>A (n.*2390C>A) c.2083C>A (p.Leu695Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396168T>A | CA405896818 | PRX | c.2184A>T (p.Lys728Asn) c.1767A>T (p.Lys589Asn) c.2469A>T (p.Lys823Asn) c.2059A>T c.2045A>T c.2146A>T c.2071A>T c.*2389A>T (n.*2389A>T) c.2082A>T (p.Lys694Asn) | |
| 19 | g.40396168T>C | CA507679374 | PRX | c.2184A>G (p.Lys728=) c.1767A>G (p.Lys589=) c.2469A>G (p.Lys823=) c.2059A>G c.2045A>G c.2146A>G c.2071A>G c.*2389A>G (n.*2389A>G) c.2082A>G (p.Lys694=) | ClinVar dbSNP |
| 19 | g.40396168T>G | CA405896819 | PRX | c.2184A>C (p.Lys728Asn) c.1767A>C (p.Lys589Asn) c.2469A>C (p.Lys823Asn) c.2059A>C c.2045A>C c.2146A>C c.2071A>C c.*2389A>C (n.*2389A>C) c.2082A>C (p.Lys694Asn) | |
| 19 | g.40396169T>A | CA405896820 | PRX | c.2183A>T (p.Lys728Ile) c.1766A>T (p.Lys589Ile) c.2468A>T (p.Lys823Ile) c.2058A>T c.2044A>T c.2145A>T c.2070A>T c.*2388A>T (n.*2388A>T) c.2081A>T (p.Lys694Ile) | |
| 19 | g.40396169T>C | CA405896821 | PRX | c.2183A>G (p.Lys728Arg) c.1766A>G (p.Lys589Arg) c.2468A>G (p.Lys823Arg) c.2058A>G c.2044A>G c.2145A>G c.2070A>G c.*2388A>G (n.*2388A>G) c.2081A>G (p.Lys694Arg) | |
| 19 | g.40396169T>G | CA405896822 | PRX | c.2183A>C (p.Lys728Thr) c.1766A>C (p.Lys589Thr) c.2468A>C (p.Lys823Thr) c.2058A>C c.2044A>C c.2145A>C c.2070A>C c.*2388A>C (n.*2388A>C) c.2081A>C (p.Lys694Thr) | |
| 19 | g.40396169_40396170insGCAC | CA995889336 | PRX | c.2182_2183insGTGC (p.Lys728SerfsTer8) c.1765_1766insGTGC (p.Lys589SerfsTer8) c.2467_2468insGTGC (p.Lys823SerfsTer8) c.2057_2058insGTGC c.2043_2044insGTGC c.2144_2145insGTGC c.2069_2070insGTGC c.*2387_*2388insGTGC (n.*2387_*2388insGTGC) c.2080_2081insGTGC (p.Lys694SerfsTer8) | gnomAD v3 gnomAD v4 |
| 19 | g.40396170T>A | CA405896823 | PRX | c.2182A>T (p.Lys728Ter) c.1765A>T (p.Lys589Ter) c.2467A>T (p.Lys823Ter) c.2057A>T c.2043A>T c.2144A>T c.2069A>T c.*2387A>T (n.*2387A>T) c.2080A>T (p.Lys694Ter) | |
| 19 | g.40396170T>C | CA405896824 | PRX | c.2182A>G (p.Lys728Glu) c.1765A>G (p.Lys589Glu) c.2467A>G (p.Lys823Glu) c.2057A>G c.2043A>G c.2144A>G c.2069A>G c.*2387A>G (n.*2387A>G) c.2080A>G (p.Lys694Glu) | |
| 19 | g.40396170T>G | CA405896825 | PRX | c.2182A>C (p.Lys728Gln) c.1765A>C (p.Lys589Gln) c.2467A>C (p.Lys823Gln) c.2057A>C c.2043A>C c.2144A>C c.2069A>C c.*2387A>C (n.*2387A>C) c.2080A>C (p.Lys694Gln) | gnomAD v3 gnomAD v4 |
| 19 | g.40396171T>A | CA507679379 | PRX | c.2181A>T (p.Ile727=) c.1764A>T (p.Ile588=) c.2466A>T (p.Ile822=) c.2056A>T c.2042A>T c.2143A>T c.2068A>T c.*2386A>T (n.*2386A>T) c.2079A>T (p.Ile693=) | |
| 19 | g.40396171T>C | CA308419627 | PRX | c.2181A>G (p.Ile727Met) c.1764A>G (p.Ile588Met) c.2466A>G (p.Ile822Met) c.2056A>G c.2042A>G c.2143A>G c.2068A>G c.*2386A>G (n.*2386A>G) c.2079A>G (p.Ile693Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.40396171T>G | CA507679380 | PRX | c.2181A>C (p.Ile727=) c.1764A>C (p.Ile588=) c.2466A>C (p.Ile822=) c.2056A>C c.2042A>C c.2143A>C c.2068A>C c.*2386A>C (n.*2386A>C) c.2079A>C (p.Ile693=) | |
| 19 | g.40396171T= | CA2335961502 | PRX | c.2181A= (p.Ile727=) c.1764A= (p.Ile588=) c.2466A= (p.Ile822=) c.2056A= c.2042A= c.2143A= c.2068A= c.*2386A= (n.*2386A=) c.2079A= (p.Ile693=) | |
| 19 | g.40396172_40396173del | CA2739276801 | PRX | c.2180_2181del (p.Ile727LysfsTer7) c.1763_1764del (p.Ile588LysfsTer7) c.2465_2466del (p.Ile822LysfsTer7) c.2055_2056del c.2041_2042del c.2142_2143del c.2067_2068del c.*2385_*2386del (n.*2385_*2386del) c.2078_2079del (p.Ile693LysfsTer7) | ClinVar |
| 19 | g.40396172_40396175del | CA995889352 | PRX | c.2178_2181del (p.Ile727AsnfsTer?) c.1761_1764del (p.Ile588AsnfsTer?) c.2463_2466del (p.Ile822AsnfsTer?) c.2053_2056del c.2039_2042del c.2140_2143del c.2065_2068del c.*2383_*2386del (n.*2383_*2386del) c.2076_2079del (p.Ile693AsnfsTer?) | gnomAD v3 gnomAD v4 |
| 19 | g.40396172A>C | CA405896826 | PRX | c.2180T>G (p.Ile727Arg) c.1763T>G (p.Ile588Arg) c.2465T>G (p.Ile822Arg) c.2055T>G c.2041T>G c.2142T>G c.2067T>G c.*2385T>G (n.*2385T>G) c.2078T>G (p.Ile693Arg) | |
| 19 | g.40396172A>G | CA405896827 | PRX | c.2180T>C (p.Ile727Thr) c.1763T>C (p.Ile588Thr) c.2465T>C (p.Ile822Thr) c.2055T>C c.2041T>C c.2142T>C c.2067T>C c.*2385T>C (n.*2385T>C) c.2078T>C (p.Ile693Thr) | |
| 19 | g.40396172A>T | CA405896828 | PRX | c.2180T>A (p.Ile727Lys) c.1763T>A (p.Ile588Lys) c.2465T>A (p.Ile822Lys) c.2055T>A c.2041T>A c.2142T>A c.2067T>A c.*2385T>A (n.*2385T>A) c.2078T>A (p.Ile693Lys) | |
| 19 | g.40396173T>A | CA405896829 | PRX | c.2179A>T (p.Ile727Leu) c.1762A>T (p.Ile588Leu) c.2464A>T (p.Ile822Leu) c.2054A>T c.2040A>T c.2141A>T c.2066A>T c.*2384A>T (n.*2384A>T) c.2077A>T (p.Ile693Leu) | |
| 19 | g.40396173T>C | CA405896830 | PRX | c.2179A>G (p.Ile727Val) c.1762A>G (p.Ile588Val) c.2464A>G (p.Ile822Val) c.2054A>G c.2040A>G c.2141A>G c.2066A>G c.*2384A>G (n.*2384A>G) c.2077A>G (p.Ile693Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396173T>G | CA405896831 | PRX | c.2179A>C (p.Ile727Leu) c.1762A>C (p.Ile588Leu) c.2464A>C (p.Ile822Leu) c.2054A>C c.2040A>C c.2141A>C c.2066A>C c.*2384A>C (n.*2384A>C) c.2077A>C (p.Ile693Leu) | |
| 19 | g.40396173T= | CA2335961503 | PRX | c.2179A= (p.Ile727=) c.1762A= (p.Ile588=) c.2464A= (p.Ile822=) c.2054A= c.2040A= c.2141A= c.2066A= c.*2384A= (n.*2384A=) c.2077A= (p.Ile693=) | |
| 19 | g.40396174C>A | CA405896832 | PRX | c.2178G>T (p.Glu726Asp) c.1761G>T (p.Glu587Asp) c.2463G>T (p.Glu821Asp) c.2053G>T c.2039G>T c.2140G>T c.2065G>T c.*2383G>T (n.*2383G>T) c.2076G>T (p.Glu692Asp) | |
| 19 | g.40396174C= | CA2335961504 | PRX | c.2178G= (p.Glu726=) c.1761G= (p.Glu587=) c.2463G= (p.Glu821=) c.2053G= c.2039G= c.2140G= c.2065G= c.*2383G= (n.*2383G=) c.2076G= (p.Glu692=) | |
| 19 | g.40396174C>G | CA9444113 | PRX | c.2178G>C (p.Glu726Asp) c.1761G>C (p.Glu587Asp) c.2463G>C (p.Glu821Asp) c.2053G>C c.2039G>C c.2140G>C c.2065G>C c.*2383G>C (n.*2383G>C) c.2076G>C (p.Glu692Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40396174C>T | CA507679387 | PRX | c.2178G>A (p.Glu726=) c.1761G>A (p.Glu587=) c.2463G>A (p.Glu821=) c.2053G>A c.2039G>A c.2140G>A c.2065G>A c.*2383G>A (n.*2383G>A) c.2076G>A (p.Glu692=) | ClinVar dbSNP |
| 19 | g.40396175T>A | CA405896833 | PRX | c.2177A>T (p.Glu726Val) c.1760A>T (p.Glu587Val) c.2462A>T (p.Glu821Val) c.2052A>T c.2038A>T c.2139A>T c.2064A>T c.*2382A>T (n.*2382A>T) c.2075A>T (p.Glu692Val) | |
| 19 | g.40396175T>C | CA405896834 | PRX | c.2177A>G (p.Glu726Gly) c.1760A>G (p.Glu587Gly) c.2462A>G (p.Glu821Gly) c.2052A>G c.2038A>G c.2139A>G c.2064A>G c.*2382A>G (n.*2382A>G) c.2075A>G (p.Glu692Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396175T>G | CA405896835 | PRX | c.2177A>C (p.Glu726Ala) c.1760A>C (p.Glu587Ala) c.2462A>C (p.Glu821Ala) c.2052A>C c.2038A>C c.2139A>C c.2064A>C c.*2382A>C (n.*2382A>C) c.2075A>C (p.Glu692Ala) | |
| 19 | g.40396175T= | CA2335961505 | PRX | c.2177A= (p.Glu726=) c.1760A= (p.Glu587=) c.2462A= (p.Glu821=) c.2052A= c.2038A= c.2139A= c.2064A= c.*2382A= (n.*2382A=) c.2075A= (p.Glu692=) | |
| 19 | g.40396176C>A | CA405896836 | PRX | c.2176G>T (p.Glu726Ter) c.1759G>T (p.Glu587Ter) c.2461G>T (p.Glu821Ter) c.2051G>T c.2037G>T c.2138G>T c.2063G>T c.*2381G>T (n.*2381G>T) c.2074G>T (p.Glu692Ter) | |
| 19 | g.40396176C>G | CA405896837 | PRX | c.2176G>C (p.Glu726Gln) c.1759G>C (p.Glu587Gln) c.2461G>C (p.Glu821Gln) c.2051G>C c.2037G>C c.2138G>C c.2063G>C c.*2381G>C (n.*2381G>C) c.2074G>C (p.Glu692Gln) | |
| 19 | g.40396176C>T | CA405896838 | PRX | c.2176G>A (p.Glu726Lys) c.1759G>A (p.Glu587Lys) c.2461G>A (p.Glu821Lys) c.2051G>A c.2037G>A c.2138G>A c.2063G>A c.*2381G>A (n.*2381G>A) c.2074G>A (p.Glu692Lys) | ClinVar |
| 19 | g.40396177T>A | CA507679388 | PRX | c.2175A>T (p.Pro725=) c.1758A>T (p.Pro586=) c.2460A>T (p.Pro820=) c.2050A>T c.2036A>T c.2137A>T c.2062A>T c.*2380A>T (n.*2380A>T) c.2073A>T (p.Pro691=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396177T>C | CA507679390 | PRX | c.2175A>G (p.Pro725=) c.1758A>G (p.Pro586=) c.2460A>G (p.Pro820=) c.2050A>G c.2036A>G c.2137A>G c.2062A>G c.*2380A>G (n.*2380A>G) c.2073A>G (p.Pro691=) | dbSNP gnomAD v4 |
| 19 | g.40396177T>G | CA507679391 | PRX | c.2175A>C (p.Pro725=) c.1758A>C (p.Pro586=) c.2460A>C (p.Pro820=) c.2050A>C c.2036A>C c.2137A>C c.2062A>C c.*2380A>C (n.*2380A>C) c.2073A>C (p.Pro691=) | |
| 19 | g.40396177T= | CA2335961506 | PRX | c.2175A= (p.Pro725=) c.1758A= (p.Pro586=) c.2460A= (p.Pro820=) c.2050A= c.2036A= c.2137A= c.2062A= c.*2380A= (n.*2380A=) c.2073A= (p.Pro691=) | |
| 19 | g.40396178G>A | CA405896839 | PRX | c.2174C>T (p.Pro725Leu) c.1757C>T (p.Pro586Leu) c.2459C>T (p.Pro820Leu) c.2049C>T c.2035C>T c.2136C>T c.2061C>T c.*2379C>T (n.*2379C>T) c.2072C>T (p.Pro691Leu) | gnomAD v4 COSMIC |
| 19 | g.40396178G>C | CA405896840 | PRX | c.2174C>G (p.Pro725Arg) c.1757C>G (p.Pro586Arg) c.2459C>G (p.Pro820Arg) c.2049C>G c.2035C>G c.2136C>G c.2061C>G c.*2379C>G (n.*2379C>G) c.2072C>G (p.Pro691Arg) | |
| 19 | g.40396178G>T | CA405896841 | PRX | c.2174C>A (p.Pro725Gln) c.1757C>A (p.Pro586Gln) c.2459C>A (p.Pro820Gln) c.2049C>A c.2035C>A c.2136C>A c.2061C>A c.*2379C>A (n.*2379C>A) c.2072C>A (p.Pro691Gln) | |
| 19 | g.40396179_40396195del | CA2736045053 | PRX | c.2158_2174del (p.Pro720ArgfsTer9) c.1741_1757del (p.Pro581ArgfsTer9) c.2443_2459del (p.Pro815ArgfsTer9) c.2033_2049del c.2019_2035del c.2120_2136del c.2045_2061del c.*2363_*2379del (n.*2363_*2379del) c.2056_2072del (p.Pro686ArgfsTer9) | dbSNP |
| 19 | g.40396179G>A | CA405896842 | PRX | c.2173C>T (p.Pro725Ser) c.1756C>T (p.Pro586Ser) c.2458C>T (p.Pro820Ser) c.2048C>T c.2034C>T c.2135C>T c.2060C>T c.*2378C>T (n.*2378C>T) c.2071C>T (p.Pro691Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40396179G>C | CA405896843 | PRX | c.2173C>G (p.Pro725Ala) c.1756C>G (p.Pro586Ala) c.2458C>G (p.Pro820Ala) c.2048C>G c.2034C>G c.2135C>G c.2060C>G c.*2378C>G (n.*2378C>G) c.2071C>G (p.Pro691Ala) | gnomAD v4 |
| 19 | g.40396179G= | CA2335961507 | PRX | c.2173C= (p.Pro725=) c.1756C= (p.Pro586=) c.2458C= (p.Pro820=) c.2048C= c.2034C= c.2135C= c.2060C= c.*2378C= (n.*2378C=) c.2071C= (p.Pro691=) | |
| 19 | g.40396179G>T | CA405896844 | PRX | c.2173C>A (p.Pro725Thr) c.1756C>A (p.Pro586Thr) c.2458C>A (p.Pro820Thr) c.2048C>A c.2034C>A c.2135C>A c.2060C>A c.*2378C>A (n.*2378C>A) c.2071C>A (p.Pro691Thr) | |
| 19 | g.40396180G>A | CA507679393 | PRX | c.2172C>T (p.Leu724=) c.1755C>T (p.Leu585=) c.2457C>T (p.Leu819=) c.2047C>T c.2033C>T c.2134C>T c.2059C>T c.*2377C>T (n.*2377C>T) c.2070C>T (p.Leu690=) | gnomAD v4 |
| 19 | g.40396180G>C | CA507679394 | PRX | c.2172C>G (p.Leu724=) c.1755C>G (p.Leu585=) c.2457C>G (p.Leu819=) c.2047C>G c.2033C>G c.2134C>G c.2059C>G c.*2377C>G (n.*2377C>G) c.2070C>G (p.Leu690=) | |
| 19 | g.40396180G>T | CA507679395 | PRX | c.2172C>A (p.Leu724=) c.1755C>A (p.Leu585=) c.2457C>A (p.Leu819=) c.2047C>A c.2033C>A c.2134C>A c.2059C>A c.*2377C>A (n.*2377C>A) c.2070C>A (p.Leu690=) | |
| 19 | g.40396181A>C | CA405896847 | PRX | c.2171T>G (p.Leu724Arg) c.1754T>G (p.Leu585Arg) c.2456T>G (p.Leu819Arg) c.2046T>G c.2032T>G c.2133T>G c.2058T>G c.*2376T>G (n.*2376T>G) c.2069T>G (p.Leu690Arg) | |
| 19 | g.40396181A>G | CA405896846 | PRX | c.2171T>C (p.Leu724Pro) c.1754T>C (p.Leu585Pro) c.2456T>C (p.Leu819Pro) c.2046T>C c.2032T>C c.2133T>C c.2058T>C c.*2376T>C (n.*2376T>C) c.2069T>C (p.Leu690Pro) | |
| 19 | g.40396181A>T | CA405896845 | PRX | c.2171T>A (p.Leu724His) c.1754T>A (p.Leu585His) c.2456T>A (p.Leu819His) c.2046T>A c.2032T>A c.2133T>A c.2058T>A c.*2376T>A (n.*2376T>A) c.2069T>A (p.Leu690His) | |
| 19 | g.40396182del | CA995889364 | PRX | c.2170del (p.Leu724SerfsTer4) c.1753del (p.Leu585SerfsTer4) c.2455del (p.Leu819SerfsTer4) c.2045del c.2031del c.2132del c.2057del c.*2375del (n.*2375del) c.2068del (p.Leu690SerfsTer4) | gnomAD v3 gnomAD v4 |
| 19 | g.40396182G>A | CA405896848 | PRX | c.2170C>T (p.Leu724Phe) c.1753C>T (p.Leu585Phe) c.2455C>T (p.Leu819Phe) c.2045C>T c.2031C>T c.2132C>T c.2057C>T c.*2375C>T (n.*2375C>T) c.2068C>T (p.Leu690Phe) | COSMIC |
| 19 | g.40396182G>C | CA405896849 | PRX | c.2170C>G (p.Leu724Val) c.1753C>G (p.Leu585Val) c.2455C>G (p.Leu819Val) c.2045C>G c.2031C>G c.2132C>G c.2057C>G c.*2375C>G (n.*2375C>G) c.2068C>G (p.Leu690Val) | gnomAD v4 |
| 19 | g.40396182G>T | CA405896850 | PRX | c.2170C>A (p.Leu724Ile) c.1753C>A (p.Leu585Ile) c.2455C>A (p.Leu819Ile) c.2045C>A c.2031C>A c.2132C>A c.2057C>A c.*2375C>A (n.*2375C>A) c.2068C>A (p.Leu690Ile) | |
| 19 | g.40396183C>A | CA405896851 | PRX | c.2169G>T (p.Lys723Asn) c.1752G>T (p.Lys584Asn) c.2454G>T (p.Lys818Asn) c.2044G>T c.2030G>T c.2131G>T c.2056G>T c.*2374G>T (n.*2374G>T) c.2067G>T (p.Lys689Asn) | |
| 19 | g.40396183C= | CA2335961508 | PRX | c.2169G= (p.Lys723=) c.1752G= (p.Lys584=) c.2454G= (p.Lys818=) c.2044G= c.2030G= c.2131G= c.2056G= c.*2374G= (n.*2374G=) c.2067G= (p.Lys689=) | |
| 19 | g.40396183C>G | CA405896852 | PRX | c.2169G>C (p.Lys723Asn) c.1752G>C (p.Lys584Asn) c.2454G>C (p.Lys818Asn) c.2044G>C c.2030G>C c.2131G>C c.2056G>C c.*2374G>C (n.*2374G>C) c.2067G>C (p.Lys689Asn) | |
| 19 | g.40396183C>T | CA507679399 | PRX | c.2169G>A (p.Lys723=) c.1752G>A (p.Lys584=) c.2454G>A (p.Lys818=) c.2044G>A c.2030G>A c.2131G>A c.2056G>A c.*2374G>A (n.*2374G>A) c.2067G>A (p.Lys689=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396184T>A | CA405896855 | PRX | c.2168A>T (p.Lys723Met) c.1751A>T (p.Lys584Met) c.2453A>T (p.Lys818Met) c.2043A>T c.2029A>T c.2130A>T c.2055A>T c.*2373A>T (n.*2373A>T) c.2066A>T (p.Lys689Met) | |
| 19 | g.40396184T>C | CA405896854 | PRX | c.2168A>G (p.Lys723Arg) c.1751A>G (p.Lys584Arg) c.2453A>G (p.Lys818Arg) c.2043A>G c.2029A>G c.2130A>G c.2055A>G c.*2373A>G (n.*2373A>G) c.2066A>G (p.Lys689Arg) | |
| 19 | g.40396184T>G | CA405896853 | PRX | c.2168A>C (p.Lys723Thr) c.1751A>C (p.Lys584Thr) c.2453A>C (p.Lys818Thr) c.2043A>C c.2029A>C c.2130A>C c.2055A>C c.*2373A>C (n.*2373A>C) c.2066A>C (p.Lys689Thr) | |
| 19 | g.40396185T>A | CA405896856 | PRX | c.2167A>T (p.Lys723Ter) c.1750A>T (p.Lys584Ter) c.2452A>T (p.Lys818Ter) c.2042A>T c.2028A>T c.2129A>T c.2054A>T c.*2372A>T (n.*2372A>T) c.2065A>T (p.Lys689Ter) | |
| 19 | g.40396185T>C | CA405896857 | PRX | c.2167A>G (p.Lys723Glu) c.1750A>G (p.Lys584Glu) c.2452A>G (p.Lys818Glu) c.2042A>G c.2028A>G c.2129A>G c.2054A>G c.*2372A>G (n.*2372A>G) c.2065A>G (p.Lys689Glu) | |
| 19 | g.40396185T>G | CA405896858 | PRX | c.2167A>C (p.Lys723Gln) c.1750A>C (p.Lys584Gln) c.2452A>C (p.Lys818Gln) c.2042A>C c.2028A>C c.2129A>C c.2054A>C c.*2372A>C (n.*2372A>C) c.2065A>C (p.Lys689Gln) | |
| 19 | g.40396186C>A | CA405896859 | PRX | c.2166G>T (p.Met722Ile) c.1749G>T (p.Met583Ile) c.2451G>T (p.Met817Ile) c.2041G>T c.2027G>T c.2128G>T c.2053G>T c.*2371G>T (n.*2371G>T) c.2064G>T (p.Met688Ile) | |
| 19 | g.40396186C>G | CA405896860 | PRX | c.2166G>C (p.Met722Ile) c.1749G>C (p.Met583Ile) c.2451G>C (p.Met817Ile) c.2041G>C c.2027G>C c.2128G>C c.2053G>C c.*2371G>C (n.*2371G>C) c.2064G>C (p.Met688Ile) | |
| 19 | g.40396186C>T | CA405896861 | PRX | c.2166G>A (p.Met722Ile) c.1749G>A (p.Met583Ile) c.2451G>A (p.Met817Ile) c.2041G>A c.2027G>A c.2128G>A c.2053G>A c.*2371G>A (n.*2371G>A) c.2064G>A (p.Met688Ile) | gnomAD v4 |
| 19 | g.40396187A>C | CA405896862 | PRX | c.2165T>G (p.Met722Arg) c.1748T>G (p.Met583Arg) c.2450T>G (p.Met817Arg) c.2040T>G c.2026T>G c.2127T>G c.2052T>G c.*2370T>G (n.*2370T>G) c.2063T>G (p.Met688Arg) | |
| 19 | g.40396187A>G | CA405896864 | PRX | c.2165T>C (p.Met722Thr) c.1748T>C (p.Met583Thr) c.2450T>C (p.Met817Thr) c.2040T>C c.2026T>C c.2127T>C c.2052T>C c.*2370T>C (n.*2370T>C) c.2063T>C (p.Met688Thr) | gnomAD v4 |
| 19 | g.40396187A>T | CA405896863 | PRX | c.2165T>A (p.Met722Lys) c.1748T>A (p.Met583Lys) c.2450T>A (p.Met817Lys) c.2040T>A c.2026T>A c.2127T>A c.2052T>A c.*2370T>A (n.*2370T>A) c.2063T>A (p.Met688Lys) | |
| 19 | g.40396188T>A | CA405896865 | PRX | c.2164A>T (p.Met722Leu) c.1747A>T (p.Met583Leu) c.2449A>T (p.Met817Leu) c.2039A>T c.2025A>T c.2126A>T c.2051A>T c.*2369A>T (n.*2369A>T) c.2062A>T (p.Met688Leu) | dbSNP |
| 19 | g.40396188T>C | CA9444114 | PRX | c.2164A>G (p.Met722Val) c.1747A>G (p.Met583Val) c.2449A>G (p.Met817Val) c.2039A>G c.2025A>G c.2126A>G c.2051A>G c.*2369A>G (n.*2369A>G) c.2062A>G (p.Met688Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396188T>G | CA405896866 | PRX | c.2164A>C (p.Met722Leu) c.1747A>C (p.Met583Leu) c.2449A>C (p.Met817Leu) c.2039A>C c.2025A>C c.2126A>C c.2051A>C c.*2369A>C (n.*2369A>C) c.2062A>C (p.Met688Leu) | |
| 19 | g.40396188T= | CA2335961509 | PRX | c.2164A= (p.Met722=) c.1747A= (p.Met583=) c.2449A= (p.Met817=) c.2039A= c.2025A= c.2126A= c.2051A= c.*2369A= (n.*2369A=) c.2062A= (p.Met688=) | |
| 19 | g.40396189G>A | CA507679405 | PRX | c.2163C>T (p.Asp721=) c.1746C>T (p.Asp582=) c.2448C>T (p.Asp816=) c.2038C>T c.2024C>T c.2125C>T c.2050C>T c.*2368C>T (n.*2368C>T) c.2061C>T (p.Asp687=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40396189G>C | CA405896867 | PRX | c.2163C>G (p.Asp721Glu) c.1746C>G (p.Asp582Glu) c.2448C>G (p.Asp816Glu) c.2038C>G c.2024C>G c.2125C>G c.2050C>G c.*2368C>G (n.*2368C>G) c.2061C>G (p.Asp687Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396189G= | CA2335961510 | PRX | c.2163C= (p.Asp721=) c.1746C= (p.Asp582=) c.2448C= (p.Asp816=) c.2038C= c.2024C= c.2125C= c.2050C= c.*2368C= (n.*2368C=) c.2061C= (p.Asp687=) | |
| 19 | g.40396189G>T | CA405896868 | PRX | c.2163C>A (p.Asp721Glu) c.1746C>A (p.Asp582Glu) c.2448C>A (p.Asp816Glu) c.2038C>A c.2024C>A c.2125C>A c.2050C>A c.*2368C>A (n.*2368C>A) c.2061C>A (p.Asp687Glu) | |
| 19 | g.40396190T>A | CA405896869 | PRX | c.2162A>T (p.Asp721Val) c.1745A>T (p.Asp582Val) c.2447A>T (p.Asp816Val) c.2037A>T c.2023A>T c.2124A>T c.2049A>T c.*2367A>T (n.*2367A>T) c.2060A>T (p.Asp687Val) | |
| 19 | g.40396190T>C | CA405896870 | PRX | c.2162A>G (p.Asp721Gly) c.1745A>G (p.Asp582Gly) c.2447A>G (p.Asp816Gly) c.2037A>G c.2023A>G c.2124A>G c.2049A>G c.*2367A>G (n.*2367A>G) c.2060A>G (p.Asp687Gly) | gnomAD v3 gnomAD v4 |
| 19 | g.40396190T>G | CA405896871 | PRX | c.2162A>C (p.Asp721Ala) c.1745A>C (p.Asp582Ala) c.2447A>C (p.Asp816Ala) c.2037A>C c.2023A>C c.2124A>C c.2049A>C c.*2367A>C (n.*2367A>C) c.2060A>C (p.Asp687Ala) | |
| 19 | g.40396191C>A | CA405896872 | PRX | c.2161G>T (p.Asp721Tyr) c.1744G>T (p.Asp582Tyr) c.2446G>T (p.Asp816Tyr) c.2036G>T c.2022G>T c.2123G>T c.2048G>T c.*2366G>T (n.*2366G>T) c.2059G>T (p.Asp687Tyr) | |
| 19 | g.40396191C>G | CA405896873 | PRX | c.2161G>C (p.Asp721His) c.1744G>C (p.Asp582His) c.2446G>C (p.Asp816His) c.2036G>C c.2022G>C c.2123G>C c.2048G>C c.*2366G>C (n.*2366G>C) c.2059G>C (p.Asp687His) | |
| 19 | g.40396191C>T | CA405896874 | PRX | c.2161G>A (p.Asp721Asn) c.1744G>A (p.Asp582Asn) c.2446G>A (p.Asp816Asn) c.2036G>A c.2022G>A c.2123G>A c.2048G>A c.*2366G>A (n.*2366G>A) c.2059G>A (p.Asp687Asn) | |
| 19 | g.40396192A>C | CA507679407 | PRX | c.2160T>G (p.Pro720=) c.1743T>G (p.Pro581=) c.2445T>G (p.Pro815=) c.2035T>G c.2021T>G c.2122T>G c.2047T>G c.*2365T>G (n.*2365T>G) c.2058T>G (p.Pro686=) | |
| 19 | g.40396192A>G | CA507679408 | PRX | c.2160T>C (p.Pro720=) c.1743T>C (p.Pro581=) c.2445T>C (p.Pro815=) c.2035T>C c.2021T>C c.2122T>C c.2047T>C c.*2365T>C (n.*2365T>C) c.2058T>C (p.Pro686=) | gnomAD v4 |
| 19 | g.40396192A>T | CA507679409 | PRX | c.2160T>A (p.Pro720=) c.1743T>A (p.Pro581=) c.2445T>A (p.Pro815=) c.2035T>A c.2021T>A c.2122T>A c.2047T>A c.*2365T>A (n.*2365T>A) c.2058T>A (p.Pro686=) | |
| 19 | g.40396193G>A | CA405896875 | PRX | c.2159C>T (p.Pro720Leu) c.1742C>T (p.Pro581Leu) c.2444C>T (p.Pro815Leu) c.2034C>T c.2020C>T c.2121C>T c.2046C>T c.*2364C>T (n.*2364C>T) c.2057C>T (p.Pro686Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396193G>C | CA405896877 | PRX | c.2159C>G (p.Pro720Arg) c.1742C>G (p.Pro581Arg) c.2444C>G (p.Pro815Arg) c.2034C>G c.2020C>G c.2121C>G c.2046C>G c.*2364C>G (n.*2364C>G) c.2057C>G (p.Pro686Arg) | dbSNP |
| 19 | g.40396193G= | CA2335961511 | PRX | c.2159C= (p.Pro720=) c.1742C= (p.Pro581=) c.2444C= (p.Pro815=) c.2034C= c.2020C= c.2121C= c.2046C= c.*2364C= (n.*2364C=) c.2057C= (p.Pro686=) | |
| 19 | g.40396193G>T | CA405896876 | PRX | c.2159C>A (p.Pro720His) c.1742C>A (p.Pro581His) c.2444C>A (p.Pro815His) c.2034C>A c.2020C>A c.2121C>A c.2046C>A c.*2364C>A (n.*2364C>A) c.2057C>A (p.Pro686His) | |
| 19 | g.40396194G>A | CA405896878 | PRX | c.2158C>T (p.Pro720Ser) c.1741C>T (p.Pro581Ser) c.2443C>T (p.Pro815Ser) c.2033C>T c.2019C>T c.2120C>T c.2045C>T c.*2363C>T (n.*2363C>T) c.2056C>T (p.Pro686Ser) | ClinVar dbSNP |
| 19 | g.40396194G>C | CA405896879 | PRX | c.2158C>G (p.Pro720Ala) c.1741C>G (p.Pro581Ala) c.2443C>G (p.Pro815Ala) c.2033C>G c.2019C>G c.2120C>G c.2045C>G c.*2363C>G (n.*2363C>G) c.2056C>G (p.Pro686Ala) | |
| 19 | g.40396194G= | CA2335961512 | PRX | c.2158C= (p.Pro720=) c.1741C= (p.Pro581=) c.2443C= (p.Pro815=) c.2033C= c.2019C= c.2120C= c.2045C= c.*2363C= (n.*2363C=) c.2056C= (p.Pro686=) | |
| 19 | g.40396194G>T | CA405896880 | PRX | c.2158C>A (p.Pro720Thr) c.1741C>A (p.Pro581Thr) c.2443C>A (p.Pro815Thr) c.2033C>A c.2019C>A c.2120C>A c.2045C>A c.*2363C>A (n.*2363C>A) c.2056C>A (p.Pro686Thr) | |
| 19 | g.40396195G>A | CA308419632 | PRX | c.2157C>T (p.Val719=) c.1740C>T (p.Val580=) c.2442C>T (p.Val814=) c.2032C>T c.2018C>T c.2119C>T c.2044C>T c.*2362C>T (n.*2362C>T) c.2055C>T (p.Val685=) | dbSNP |
| 19 | g.40396195G>C | CA507679415 | PRX | c.2157C>G (p.Val719=) c.1740C>G (p.Val580=) c.2442C>G (p.Val814=) c.2032C>G c.2018C>G c.2119C>G c.2044C>G c.*2362C>G (n.*2362C>G) c.2055C>G (p.Val685=) | |
| 19 | g.40396195G= | CA2335961513 | PRX | c.2157C= (p.Val719=) c.1740C= (p.Val580=) c.2442C= (p.Val814=) c.2032C= c.2018C= c.2119C= c.2044C= c.*2362C= (n.*2362C=) c.2055C= (p.Val685=) | |
| 19 | g.40396195G>T | CA9444115 | PRX | c.2157C>A (p.Val719=) c.1740C>A (p.Val580=) c.2442C>A (p.Val814=) c.2032C>A c.2018C>A c.2119C>A c.2044C>A c.*2362C>A (n.*2362C>A) c.2055C>A (p.Val685=) | dbSNP ExAC gnomAD v2 |
| 19 | g.40396196A>C | CA405896881 | PRX | c.2156T>G (p.Val719Gly) c.1739T>G (p.Val580Gly) c.2441T>G (p.Val814Gly) c.2031T>G c.2017T>G c.2118T>G c.2043T>G c.*2361T>G (n.*2361T>G) c.2054T>G (p.Val685Gly) | |
| 19 | g.40396196A>G | CA405896882 | PRX | c.2156T>C (p.Val719Ala) c.1739T>C (p.Val580Ala) c.2441T>C (p.Val814Ala) c.2031T>C c.2017T>C c.2118T>C c.2043T>C c.*2361T>C (n.*2361T>C) c.2054T>C (p.Val685Ala) | |
| 19 | g.40396196A>T | CA405896883 | PRX | c.2156T>A (p.Val719Asp) c.1739T>A (p.Val580Asp) c.2441T>A (p.Val814Asp) c.2031T>A c.2017T>A c.2118T>A c.2043T>A c.*2361T>A (n.*2361T>A) c.2054T>A (p.Val685Asp) | |
| 19 | g.40396196_40396197insG | CA995889386 | PRX | c.2155_2156insC (p.Val719AlafsTer3) c.1738_1739insC (p.Val580AlafsTer3) c.2440_2441insC (p.Val814AlafsTer3) c.2030_2031insC c.2016_2017insC c.2117_2118insC c.2042_2043insC c.*2360_*2361insC (n.*2360_*2361insC) c.2053_2054insC (p.Val685AlafsTer3) | gnomAD v3 gnomAD v4 |
| 19 | g.40396197C>A | CA405896884 | PRX | c.2155G>T (p.Val719Phe) c.1738G>T (p.Val580Phe) c.2440G>T (p.Val814Phe) c.2030G>T c.2016G>T c.2117G>T c.2042G>T c.*2360G>T (n.*2360G>T) c.2053G>T (p.Val685Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396197C= | CA2335961514 | PRX | c.2155G= (p.Val719=) c.1738G= (p.Val580=) c.2440G= (p.Val814=) c.2030G= c.2016G= c.2117G= c.2042G= c.*2360G= (n.*2360G=) c.2053G= (p.Val685=) | |
| 19 | g.40396197C>G | CA405896885 | PRX | c.2155G>C (p.Val719Leu) c.1738G>C (p.Val580Leu) c.2440G>C (p.Val814Leu) c.2030G>C c.2016G>C c.2117G>C c.2042G>C c.*2360G>C (n.*2360G>C) c.2053G>C (p.Val685Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396197C>T | CA405896886 | PRX | c.2155G>A (p.Val719Ile) c.1738G>A (p.Val580Ile) c.2440G>A (p.Val814Ile) c.2030G>A c.2016G>A c.2117G>A c.2042G>A c.*2360G>A (n.*2360G>A) c.2053G>A (p.Val685Ile) | |
| 19 | g.40396198T>A | CA405896887 | PRX | c.2154A>T (p.Lys718Asn) c.1737A>T (p.Lys579Asn) c.2439A>T (p.Lys813Asn) c.2029A>T c.2015A>T c.2116A>T c.2041A>T c.*2359A>T (n.*2359A>T) c.2052A>T (p.Lys684Asn) | |
| 19 | g.40396198T>C | CA507679418 | PRX | c.2154A>G (p.Lys718=) c.1737A>G (p.Lys579=) c.2439A>G (p.Lys813=) c.2029A>G c.2015A>G c.2116A>G c.2041A>G c.*2359A>G (n.*2359A>G) c.2052A>G (p.Lys684=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396198T>G | CA405896888 | PRX | c.2154A>C (p.Lys718Asn) c.1737A>C (p.Lys579Asn) c.2439A>C (p.Lys813Asn) c.2029A>C c.2015A>C c.2116A>C c.2041A>C c.*2359A>C (n.*2359A>C) c.2052A>C (p.Lys684Asn) | |
| 19 | g.40396199T>A | CA405896891 | PRX | c.2153A>T (p.Lys718Ile) c.1736A>T (p.Lys579Ile) c.2438A>T (p.Lys813Ile) c.2028A>T c.2014A>T c.2115A>T c.2040A>T c.*2358A>T (n.*2358A>T) c.2051A>T (p.Lys684Ile) | |
| 19 | g.40396199T>C | CA405896890 | PRX | c.2153A>G (p.Lys718Arg) c.1736A>G (p.Lys579Arg) c.2438A>G (p.Lys813Arg) c.2028A>G c.2014A>G c.2115A>G c.2040A>G c.*2358A>G (n.*2358A>G) c.2051A>G (p.Lys684Arg) | |
| 19 | g.40396199T>G | CA405896889 | PRX | c.2153A>C (p.Lys718Thr) c.1736A>C (p.Lys579Thr) c.2438A>C (p.Lys813Thr) c.2028A>C c.2014A>C c.2115A>C c.2040A>C c.*2358A>C (n.*2358A>C) c.2051A>C (p.Lys684Thr) | |
| 19 | g.40396200T>A | CA405896892 | PRX | c.2152A>T (p.Lys718Ter) c.1735A>T (p.Lys579Ter) c.2437A>T (p.Lys813Ter) c.2027A>T c.2013A>T c.2114A>T c.2039A>T c.*2357A>T (n.*2357A>T) c.2050A>T (p.Lys684Ter) | |
| 19 | g.40396200T>C | CA405896893 | PRX | c.2152A>G (p.Lys718Glu) c.1735A>G (p.Lys579Glu) c.2437A>G (p.Lys813Glu) c.2027A>G c.2013A>G c.2114A>G c.2039A>G c.*2357A>G (n.*2357A>G) c.2050A>G (p.Lys684Glu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.40396200T>G | CA405896894 | PRX | c.2152A>C (p.Lys718Gln) c.1735A>C (p.Lys579Gln) c.2437A>C (p.Lys813Gln) c.2027A>C c.2013A>C c.2114A>C c.2039A>C c.*2357A>C (n.*2357A>C) c.2050A>C (p.Lys684Gln) | |
| 19 | g.40396200T= | CA2335961515 | PRX | c.2152A= (p.Lys718=) c.1735A= (p.Lys579=) c.2437A= (p.Lys813=) c.2027A= c.2013A= c.2114A= c.2039A= c.*2357A= (n.*2357A=) c.2050A= (p.Lys684=) | |
| 19 | g.40396201C>A | CA405896895 | PRX | c.2151G>T (p.Met717Ile) c.1734G>T (p.Met578Ile) c.2436G>T (p.Met812Ile) c.2026G>T c.2012G>T c.2113G>T c.2038G>T c.*2356G>T (n.*2356G>T) c.2049G>T (p.Met683Ile) | |
| 19 | g.40396201C>G | CA405896896 | PRX | c.2151G>C (p.Met717Ile) c.1734G>C (p.Met578Ile) c.2436G>C (p.Met812Ile) c.2026G>C c.2012G>C c.2113G>C c.2038G>C c.*2356G>C (n.*2356G>C) c.2049G>C (p.Met683Ile) | |
| 19 | g.40396201C>T | CA405896897 | PRX | c.2151G>A (p.Met717Ile) c.1734G>A (p.Met578Ile) c.2436G>A (p.Met812Ile) c.2026G>A c.2012G>A c.2113G>A c.2038G>A c.*2356G>A (n.*2356G>A) c.2049G>A (p.Met683Ile) | |
| 19 | g.40396202A= | CA2335961516 | PRX | c.2150T= (p.Met717=) c.1733T= (p.Met578=) c.2435T= (p.Met812=) c.2025T= c.2011T= c.2112T= c.2037T= c.*2355T= (n.*2355T=) c.2048T= (p.Met683=) | |
| 19 | g.40396202A>C | CA405896898 | PRX | c.2150T>G (p.Met717Arg) c.1733T>G (p.Met578Arg) c.2435T>G (p.Met812Arg) c.2025T>G c.2011T>G c.2112T>G c.2037T>G c.*2355T>G (n.*2355T>G) c.2048T>G (p.Met683Arg) | gnomAD v4 |
| 19 | g.40396202A>G | CA9444116 | PRX | c.2150T>C (p.Met717Thr) c.1733T>C (p.Met578Thr) c.2435T>C (p.Met812Thr) c.2025T>C c.2011T>C c.2112T>C c.2037T>C c.*2355T>C (n.*2355T>C) c.2048T>C (p.Met683Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40396202A>T | CA405896899 | PRX | c.2150T>A (p.Met717Lys) c.1733T>A (p.Met578Lys) c.2435T>A (p.Met812Lys) c.2025T>A c.2011T>A c.2112T>A c.2037T>A c.*2355T>A (n.*2355T>A) c.2048T>A (p.Met683Lys) | |
| 19 | g.40396203T>A | CA405896900 | PRX | c.2149A>T (p.Met717Leu) c.1732A>T (p.Met578Leu) c.2434A>T (p.Met812Leu) c.2024A>T c.2010A>T c.2111A>T c.2036A>T c.*2354A>T (n.*2354A>T) c.2047A>T (p.Met683Leu) | |
| 19 | g.40396203T>C | CA405896901 | PRX | c.2149A>G (p.Met717Val) c.1732A>G (p.Met578Val) c.2434A>G (p.Met812Val) c.2024A>G c.2010A>G c.2111A>G c.2036A>G c.*2354A>G (n.*2354A>G) c.2047A>G (p.Met683Val) | gnomAD v4 |
| 19 | g.40396203T>G | CA405896902 | PRX | c.2149A>C (p.Met717Leu) c.1732A>C (p.Met578Leu) c.2434A>C (p.Met812Leu) c.2024A>C c.2010A>C c.2111A>C c.2036A>C c.*2354A>C (n.*2354A>C) c.2047A>C (p.Met683Leu) | |
| 19 | g.40396204T>A | CA405896903 | PRX | c.2148A>T (p.Glu716Asp) c.1731A>T (p.Glu577Asp) c.2433A>T (p.Glu811Asp) c.2023A>T c.2009A>T c.2110A>T c.2035A>T c.*2353A>T (n.*2353A>T) c.2046A>T (p.Glu682Asp) | |
| 19 | g.40396204T>C | CA507679424 | PRX | c.2148A>G (p.Glu716=) c.1731A>G (p.Glu577=) c.2433A>G (p.Glu811=) c.2023A>G c.2009A>G c.2110A>G c.2035A>G c.*2353A>G (n.*2353A>G) c.2046A>G (p.Glu682=) | gnomAD v3 gnomAD v4 |
| 19 | g.40396204T>G | CA405896904 | PRX | c.2148A>C (p.Glu716Asp) c.1731A>C (p.Glu577Asp) c.2433A>C (p.Glu811Asp) c.2023A>C c.2009A>C c.2110A>C c.2035A>C c.*2353A>C (n.*2353A>C) c.2046A>C (p.Glu682Asp) | gnomAD v4 |
| 19 | g.40396205T>A | CA405896907 | PRX | c.2147A>T (p.Glu716Val) c.1730A>T (p.Glu577Val) c.2432A>T (p.Glu811Val) c.2022A>T c.2008A>T c.2109A>T c.2034A>T c.*2352A>T (n.*2352A>T) c.2045A>T (p.Glu682Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396205T>C | CA405896906 | PRX | c.2147A>G (p.Glu716Gly) c.1730A>G (p.Glu577Gly) c.2432A>G (p.Glu811Gly) c.2022A>G c.2008A>G c.2109A>G c.2034A>G c.*2352A>G (n.*2352A>G) c.2045A>G (p.Glu682Gly) | gnomAD v4 |
| 19 | g.40396205T>G | CA405896905 | PRX | c.2147A>C (p.Glu716Ala) c.1730A>C (p.Glu577Ala) c.2432A>C (p.Glu811Ala) c.2022A>C c.2008A>C c.2109A>C c.2034A>C c.*2352A>C (n.*2352A>C) c.2045A>C (p.Glu682Ala) | |
| 19 | g.40396205T= | CA2335961517 | PRX | c.2147A= (p.Glu716=) c.1730A= (p.Glu577=) c.2432A= (p.Glu811=) c.2022A= c.2008A= c.2109A= c.2034A= c.*2352A= (n.*2352A=) c.2045A= (p.Glu682=) | |
| 19 | g.40396206C>A | CA405896908 | PRX | c.2146G>T (p.Glu716Ter) c.1729G>T (p.Glu577Ter) c.2431G>T (p.Glu811Ter) c.2021G>T c.2007G>T c.2108G>T c.2033G>T c.*2351G>T (n.*2351G>T) c.2044G>T (p.Glu682Ter) | |
| 19 | g.40396206C= | CA2335961518 | PRX | c.2146G= (p.Glu716=) c.1729G= (p.Glu577=) c.2431G= (p.Glu811=) c.2021G= c.2007G= c.2108G= c.2033G= c.*2351G= (n.*2351G=) c.2044G= (p.Glu682=) | |
| 19 | g.40396206C>G | CA405896909 | PRX | c.2146G>C (p.Glu716Gln) c.1729G>C (p.Glu577Gln) c.2431G>C (p.Glu811Gln) c.2021G>C c.2007G>C c.2108G>C c.2033G>C c.*2351G>C (n.*2351G>C) c.2044G>C (p.Glu682Gln) | |
| 19 | g.40396206C>T | CA405896910 | PRX | c.2146G>A (p.Glu716Lys) c.1729G>A (p.Glu577Lys) c.2431G>A (p.Glu811Lys) c.2021G>A c.2007G>A c.2108G>A c.2033G>A c.*2351G>A (n.*2351G>A) c.2044G>A (p.Glu682Lys) | dbSNP gnomAD v2 |
| 19 | g.40396208_40396209del | CA2585127083 | PRX | c.2145_2146del (p.Cys715Ter) c.1728_1729del (p.Cys576Ter) c.2430_2431del (p.Cys810Ter) c.2020_2021del c.2006_2007del c.2107_2108del c.2032_2033del c.*2350_*2351del (n.*2350_*2351del) c.2043_2044del (p.Cys681Ter) | gnomAD v4 |
| 19 | g.40396207A= | CA2335961519 | PRX | c.2145T= (p.Cys715=) c.1728T= (p.Cys576=) c.2430T= (p.Cys810=) c.2020T= c.2006T= c.2107T= c.2032T= c.*2350T= (n.*2350T=) c.2043T= (p.Cys681=) | |
| 19 | g.40396207A>C | CA405896911 | PRX | c.2145T>G (p.Cys715Trp) c.1728T>G (p.Cys576Trp) c.2430T>G (p.Cys810Trp) c.2020T>G c.2006T>G c.2107T>G c.2032T>G c.*2350T>G (n.*2350T>G) c.2043T>G (p.Cys681Trp) | |
| 19 | g.40396207A>G | CA507679430 | PRX | c.2145T>C (p.Cys715=) c.1728T>C (p.Cys576=) c.2430T>C (p.Cys810=) c.2020T>C c.2006T>C c.2107T>C c.2032T>C c.*2350T>C (n.*2350T>C) c.2043T>C (p.Cys681=) | |
| 19 | g.40396207A>T | CA343107 | PRX | c.2145T>A (p.Cys715Ter) c.1728T>A (p.Cys576Ter) c.2430T>A (p.Cys810Ter) c.2020T>A c.2006T>A c.2107T>A c.2032T>A c.*2350T>A (n.*2350T>A) c.2043T>A (p.Cys681Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |