| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38894945G>A | CA352175177 | SCN11A | c.2423C>T (p.Ala808Val) c.2243C>T (p.Ala748Val) c.2467C>T (n.2467C>T) c.2042C>T (p.Ala681Val) c.1760C>T (p.Ala587Val) c.971C>T (p.Ala324Val) c.2798C>T (p.Ala933Val) c.2225C>T (p.Ala742Val) c.2150C>T (p.Ala717Val) c.827C>T (p.Ala276Val) | gnomAD v4 |
| 3 | g.38894945G>C | CA145435 | SCN11A | c.2423C>G (p.Ala808Gly) c.2243C>G (p.Ala748Gly) c.2467C>G (n.2467C>G) c.2042C>G (p.Ala681Gly) c.1760C>G (p.Ala587Gly) c.971C>G (p.Ala324Gly) c.2798C>G (p.Ala933Gly) c.2225C>G (p.Ala742Gly) c.2150C>G (p.Ala717Gly) c.827C>G (p.Ala276Gly) | ClinVar dbSNP |
| 3 | g.38894945G= | CA1358718304 | SCN11A | c.2423C= (p.Ala808=) c.2243C= (p.Ala748=) c.2467C= (n.2467C=) c.2042C= (p.Ala681=) c.1760C= (p.Ala587=) c.971C= (p.Ala324=) c.2798C= (p.Ala933=) c.2225C= (p.Ala742=) c.2150C= (p.Ala717=) c.827C= (p.Ala276=) | |
| 3 | g.38894945G>T | CA352175178 | SCN11A | c.2423C>A (p.Ala808Asp) c.2243C>A (p.Ala748Asp) c.2467C>A (n.2467C>A) c.2042C>A (p.Ala681Asp) c.1760C>A (p.Ala587Asp) c.971C>A (p.Ala324Asp) c.2798C>A (p.Ala933Asp) c.2225C>A (p.Ala742Asp) c.2150C>A (p.Ala717Asp) c.827C>A (p.Ala276Asp) | ClinVar dbSNP |
| 3 | g.38894946C>A | CA352175181 | SCN11A | c.2422G>T (p.Ala808Ser) c.2242G>T (p.Ala748Ser) c.2466G>T (n.2466G>T) c.2041G>T (p.Ala681Ser) c.1759G>T (p.Ala587Ser) c.970G>T (p.Ala324Ser) c.2797G>T (p.Ala933Ser) c.2224G>T (p.Ala742Ser) c.2149G>T (p.Ala717Ser) c.826G>T (p.Ala276Ser) | gnomAD v4 |
| 3 | g.38894946C>G | CA352175179 | SCN11A | c.2422G>C (p.Ala808Pro) c.2242G>C (p.Ala748Pro) c.2466G>C (n.2466G>C) c.2041G>C (p.Ala681Pro) c.1759G>C (p.Ala587Pro) c.970G>C (p.Ala324Pro) c.2797G>C (p.Ala933Pro) c.2224G>C (p.Ala742Pro) c.2149G>C (p.Ala717Pro) c.826G>C (p.Ala276Pro) | |
| 3 | g.38894946C>T | CA352175180 | SCN11A | c.2422G>A (p.Ala808Thr) c.2242G>A (p.Ala748Thr) c.2466G>A (n.2466G>A) c.2041G>A (p.Ala681Thr) c.1759G>A (p.Ala587Thr) c.970G>A (p.Ala324Thr) c.2797G>A (p.Ala933Thr) c.2224G>A (p.Ala742Thr) c.2149G>A (p.Ala717Thr) c.826G>A (p.Ala276Thr) | |
| 3 | g.38894947A>C | CA352175182 | SCN11A | c.2421T>G (p.Ile807Met) c.2241T>G (p.Ile747Met) c.2465T>G (n.2465T>G) c.2040T>G (p.Ile680Met) c.1758T>G (p.Ile586Met) c.969T>G (p.Ile323Met) c.2796T>G (p.Ile932Met) c.2223T>G (p.Ile741Met) c.2148T>G (p.Ile716Met) c.825T>G (p.Ile275Met) | |
| 3 | g.38894947A>G | CA433336245 | SCN11A | c.2421T>C (p.Ile807=) c.2241T>C (p.Ile747=) c.2465T>C (n.2465T>C) c.2040T>C (p.Ile680=) c.1758T>C (p.Ile586=) c.969T>C (p.Ile323=) c.2796T>C (p.Ile932=) c.2223T>C (p.Ile741=) c.2148T>C (p.Ile716=) c.825T>C (p.Ile275=) | |
| 3 | g.38894947A>T | CA433336246 | SCN11A | c.2421T>A (p.Ile807=) c.2241T>A (p.Ile747=) c.2465T>A (n.2465T>A) c.2040T>A (p.Ile680=) c.1758T>A (p.Ile586=) c.969T>A (p.Ile323=) c.2796T>A (p.Ile932=) c.2223T>A (p.Ile741=) c.2148T>A (p.Ile716=) c.825T>A (p.Ile275=) | gnomAD v4 |
| 3 | g.38894948A>C | CA352175183 | SCN11A | c.2420T>G (p.Ile807Ser) c.2240T>G (p.Ile747Ser) c.2464T>G (n.2464T>G) c.2039T>G (p.Ile680Ser) c.1757T>G (p.Ile586Ser) c.968T>G (p.Ile323Ser) c.2795T>G (p.Ile932Ser) c.2222T>G (p.Ile741Ser) c.2147T>G (p.Ile716Ser) c.824T>G (p.Ile275Ser) | |
| 3 | g.38894948A>G | CA352175184 | SCN11A | c.2420T>C (p.Ile807Thr) c.2240T>C (p.Ile747Thr) c.2464T>C (n.2464T>C) c.2039T>C (p.Ile680Thr) c.1757T>C (p.Ile586Thr) c.968T>C (p.Ile323Thr) c.2795T>C (p.Ile932Thr) c.2222T>C (p.Ile741Thr) c.2147T>C (p.Ile716Thr) c.824T>C (p.Ile275Thr) | |
| 3 | g.38894948A>T | CA352175185 | SCN11A | c.2420T>A (p.Ile807Asn) c.2240T>A (p.Ile747Asn) c.2464T>A (n.2464T>A) c.2039T>A (p.Ile680Asn) c.1757T>A (p.Ile586Asn) c.968T>A (p.Ile323Asn) c.2795T>A (p.Ile932Asn) c.2222T>A (p.Ile741Asn) c.2147T>A (p.Ile716Asn) c.824T>A (p.Ile275Asn) | |
| 3 | g.38894949T>A | CA352175186 | SCN11A | c.2419A>T (p.Ile807Phe) c.2239A>T (p.Ile747Phe) c.2463A>T (n.2463A>T) c.2038A>T (p.Ile680Phe) c.1756A>T (p.Ile586Phe) c.967A>T (p.Ile323Phe) c.2794A>T (p.Ile932Phe) c.2221A>T (p.Ile741Phe) c.2146A>T (p.Ile716Phe) c.823A>T (p.Ile275Phe) | |
| 3 | g.38894949T>C | CA72997931 | SCN11A | c.2419A>G (p.Ile807Val) c.2239A>G (p.Ile747Val) c.2463A>G (n.2463A>G) c.2038A>G (p.Ile680Val) c.1756A>G (p.Ile586Val) c.967A>G (p.Ile323Val) c.2794A>G (p.Ile932Val) c.2221A>G (p.Ile741Val) c.2146A>G (p.Ile716Val) c.823A>G (p.Ile275Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38894949T>G | CA352175187 | SCN11A | c.2419A>C (p.Ile807Leu) c.2239A>C (p.Ile747Leu) c.2463A>C (n.2463A>C) c.2038A>C (p.Ile680Leu) c.1756A>C (p.Ile586Leu) c.967A>C (p.Ile323Leu) c.2794A>C (p.Ile932Leu) c.2221A>C (p.Ile741Leu) c.2146A>C (p.Ile716Leu) c.823A>C (p.Ile275Leu) | |
| 3 | g.38894949T= | CA1358718306 | SCN11A | c.2419A= (p.Ile807=) c.2239A= (p.Ile747=) c.2463A= (n.2463A=) c.2038A= (p.Ile680=) c.1756A= (p.Ile586=) c.967A= (p.Ile323=) c.2794A= (p.Ile932=) c.2221A= (p.Ile741=) c.2146A= (p.Ile716=) c.823A= (p.Ile275=) | |
| 3 | g.38894949_38894952delinsTGAA | CA1358718305 | SCN11A | c.2416_2419delinsTTCA (p.Phe806=) c.2236_2239delinsTTCA (p.Phe746=) c.2460_2463delinsTTCA (n.2460_2463delinsTTCA) c.2035_2038delinsTTCA (p.Phe679=) c.1753_1756delinsTTCA (p.Phe585=) c.964_967delinsTTCA (p.Phe322=) c.2791_2794delinsTTCA (p.Phe931=) c.2218_2221delinsTTCA (p.Phe740=) c.2143_2146delinsTTCA (p.Phe715=) c.820_823delinsTTCA (p.Phe274=) | |
| 3 | g.38894950G>A | CA433336247 | SCN11A | c.2418C>T (p.Phe806=) c.2238C>T (p.Phe746=) c.2462C>T (n.2462C>T) c.2037C>T (p.Phe679=) c.1755C>T (p.Phe585=) c.966C>T (p.Phe322=) c.2793C>T (p.Phe931=) c.2220C>T (p.Phe740=) c.2145C>T (p.Phe715=) c.822C>T (p.Phe274=) | |
| 3 | g.38894950G>C | CA352175188 | SCN11A | c.2418C>G (p.Phe806Leu) c.2238C>G (p.Phe746Leu) c.2462C>G (n.2462C>G) c.2037C>G (p.Phe679Leu) c.1755C>G (p.Phe585Leu) c.966C>G (p.Phe322Leu) c.2793C>G (p.Phe931Leu) c.2220C>G (p.Phe740Leu) c.2145C>G (p.Phe715Leu) c.822C>G (p.Phe274Leu) | |
| 3 | g.38894950G>T | CA352175189 | SCN11A | c.2418C>A (p.Phe806Leu) c.2238C>A (p.Phe746Leu) c.2462C>A (n.2462C>A) c.2037C>A (p.Phe679Leu) c.1755C>A (p.Phe585Leu) c.966C>A (p.Phe322Leu) c.2793C>A (p.Phe931Leu) c.2220C>A (p.Phe740Leu) c.2145C>A (p.Phe715Leu) c.822C>A (p.Phe274Leu) | |
| 3 | g.38894952_38894954del | CA2322037 | SCN11A | c.2416_2418del (p.Phe806del) c.2236_2238del (p.Phe746del) c.2460_2462del (n.2460_2462del) c.2035_2037del (p.Phe679del) c.1753_1755del (p.Phe585del) c.964_966del (p.Phe322del) c.2791_2793del (p.Phe931del) c.2218_2220del (p.Phe740del) c.2143_2145del (p.Phe715del) c.820_822del (p.Phe274del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38894951A>C | CA352175192 | SCN11A | c.2417T>G (p.Phe806Cys) c.2237T>G (p.Phe746Cys) c.2461T>G (n.2461T>G) c.2036T>G (p.Phe679Cys) c.1754T>G (p.Phe585Cys) c.965T>G (p.Phe322Cys) c.2792T>G (p.Phe931Cys) c.2219T>G (p.Phe740Cys) c.2144T>G (p.Phe715Cys) c.821T>G (p.Phe274Cys) | |
| 3 | g.38894951A>G | CA352175191 | SCN11A | c.2417T>C (p.Phe806Ser) c.2237T>C (p.Phe746Ser) c.2461T>C (n.2461T>C) c.2036T>C (p.Phe679Ser) c.1754T>C (p.Phe585Ser) c.965T>C (p.Phe322Ser) c.2792T>C (p.Phe931Ser) c.2219T>C (p.Phe740Ser) c.2144T>C (p.Phe715Ser) c.821T>C (p.Phe274Ser) | |
| 3 | g.38894951A>T | CA352175190 | SCN11A | c.2417T>A (p.Phe806Tyr) c.2237T>A (p.Phe746Tyr) c.2461T>A (n.2461T>A) c.2036T>A (p.Phe679Tyr) c.1754T>A (p.Phe585Tyr) c.965T>A (p.Phe322Tyr) c.2792T>A (p.Phe931Tyr) c.2219T>A (p.Phe740Tyr) c.2144T>A (p.Phe715Tyr) c.821T>A (p.Phe274Tyr) | |
| 3 | g.38894952A>C | CA352175193 | SCN11A | c.2416T>G (p.Phe806Val) c.2236T>G (p.Phe746Val) c.2460T>G (n.2460T>G) c.2035T>G (p.Phe679Val) c.1753T>G (p.Phe585Val) c.964T>G (p.Phe322Val) c.2791T>G (p.Phe931Val) c.2218T>G (p.Phe740Val) c.2143T>G (p.Phe715Val) c.820T>G (p.Phe274Val) | |
| 3 | g.38894952A>G | CA352175194 | SCN11A | c.2416T>C (p.Phe806Leu) c.2236T>C (p.Phe746Leu) c.2460T>C (n.2460T>C) c.2035T>C (p.Phe679Leu) c.1753T>C (p.Phe585Leu) c.964T>C (p.Phe322Leu) c.2791T>C (p.Phe931Leu) c.2218T>C (p.Phe740Leu) c.2143T>C (p.Phe715Leu) c.820T>C (p.Phe274Leu) | |
| 3 | g.38894952A>T | CA352175195 | SCN11A | c.2416T>A (p.Phe806Ile) c.2236T>A (p.Phe746Ile) c.2460T>A (n.2460T>A) c.2035T>A (p.Phe679Ile) c.1753T>A (p.Phe585Ile) c.964T>A (p.Phe322Ile) c.2791T>A (p.Phe931Ile) c.2218T>A (p.Phe740Ile) c.2143T>A (p.Phe715Ile) c.820T>A (p.Phe274Ile) | |
| 3 | g.38894953G>A | CA433336249 | SCN11A | c.2415C>T (p.Leu805=) c.2235C>T (p.Leu745=) c.2459C>T (n.2459C>T) c.2034C>T (p.Leu678=) c.1752C>T (p.Leu584=) c.963C>T (p.Leu321=) c.2790C>T (p.Leu930=) c.2217C>T (p.Leu739=) c.2142C>T (p.Leu714=) c.819C>T (p.Leu273=) | |
| 3 | g.38894953G>C | CA433336250 | SCN11A | c.2415C>G (p.Leu805=) c.2235C>G (p.Leu745=) c.2459C>G (n.2459C>G) c.2034C>G (p.Leu678=) c.1752C>G (p.Leu584=) c.963C>G (p.Leu321=) c.2790C>G (p.Leu930=) c.2217C>G (p.Leu739=) c.2142C>G (p.Leu714=) c.819C>G (p.Leu273=) | |
| 3 | g.38894953G>T | CA433336248 | SCN11A | c.2415C>A (p.Leu805=) c.2235C>A (p.Leu745=) c.2459C>A (n.2459C>A) c.2034C>A (p.Leu678=) c.1752C>A (p.Leu584=) c.963C>A (p.Leu321=) c.2790C>A (p.Leu930=) c.2217C>A (p.Leu739=) c.2142C>A (p.Leu714=) c.819C>A (p.Leu273=) | |
| 3 | g.38894954A>C | CA352175196 | SCN11A | c.2414T>G (p.Leu805Arg) c.2234T>G (p.Leu745Arg) c.2458T>G (n.2458T>G) c.2033T>G (p.Leu678Arg) c.1751T>G (p.Leu584Arg) c.962T>G (p.Leu321Arg) c.2789T>G (p.Leu930Arg) c.2216T>G (p.Leu739Arg) c.2141T>G (p.Leu714Arg) c.818T>G (p.Leu273Arg) | |
| 3 | g.38894954A>G | CA352175197 | SCN11A | c.2414T>C (p.Leu805Pro) c.2234T>C (p.Leu745Pro) c.2458T>C (n.2458T>C) c.2033T>C (p.Leu678Pro) c.1751T>C (p.Leu584Pro) c.962T>C (p.Leu321Pro) c.2789T>C (p.Leu930Pro) c.2216T>C (p.Leu739Pro) c.2141T>C (p.Leu714Pro) c.818T>C (p.Leu273Pro) | |
| 3 | g.38894954A>T | CA352175198 | SCN11A | c.2414T>A (p.Leu805His) c.2234T>A (p.Leu745His) c.2458T>A (n.2458T>A) c.2033T>A (p.Leu678His) c.1751T>A (p.Leu584His) c.962T>A (p.Leu321His) c.2789T>A (p.Leu930His) c.2216T>A (p.Leu739His) c.2141T>A (p.Leu714His) c.818T>A (p.Leu273His) | |
| 3 | g.38894955G>A | CA2322038 | SCN11A | c.2413C>T (p.Leu805Phe) c.2233C>T (p.Leu745Phe) c.2457C>T (n.2457C>T) c.2032C>T (p.Leu678Phe) c.1750C>T (p.Leu584Phe) c.961C>T (p.Leu321Phe) c.2788C>T (p.Leu930Phe) c.2215C>T (p.Leu739Phe) c.2140C>T (p.Leu714Phe) c.817C>T (p.Leu273Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38894955G>C | CA352175200 | SCN11A | c.2413C>G (p.Leu805Val) c.2233C>G (p.Leu745Val) c.2457C>G (n.2457C>G) c.2032C>G (p.Leu678Val) c.1750C>G (p.Leu584Val) c.961C>G (p.Leu321Val) c.2788C>G (p.Leu930Val) c.2215C>G (p.Leu739Val) c.2140C>G (p.Leu714Val) c.817C>G (p.Leu273Val) | gnomAD v4 |
| 3 | g.38894955G= | CA1358718307 | SCN11A | c.2413C= (p.Leu805=) c.2233C= (p.Leu745=) c.2457C= (n.2457C=) c.2032C= (p.Leu678=) c.1750C= (p.Leu584=) c.961C= (p.Leu321=) c.2788C= (p.Leu930=) c.2215C= (p.Leu739=) c.2140C= (p.Leu714=) c.817C= (p.Leu273=) | |
| 3 | g.38894955G>T | CA352175199 | SCN11A | c.2413C>A (p.Leu805Ile) c.2233C>A (p.Leu745Ile) c.2457C>A (n.2457C>A) c.2032C>A (p.Leu678Ile) c.1750C>A (p.Leu584Ile) c.961C>A (p.Leu321Ile) c.2788C>A (p.Leu930Ile) c.2215C>A (p.Leu739Ile) c.2140C>A (p.Leu714Ile) c.817C>A (p.Leu273Ile) | |
| 3 | g.38894956G>A | CA2322039 | SCN11A | c.2412C>T (p.Asn804=) c.2232C>T (p.Asn744=) c.2456C>T (n.2456C>T) c.2031C>T (p.Asn677=) c.1749C>T (p.Asn583=) c.960C>T (p.Asn320=) c.2787C>T (p.Asn929=) c.2214C>T (p.Asn738=) c.2139C>T (p.Asn713=) c.816C>T (p.Asn272=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38894956G>C | CA352175201 | SCN11A | c.2412C>G (p.Asn804Lys) c.2232C>G (p.Asn744Lys) c.2456C>G (n.2456C>G) c.2031C>G (p.Asn677Lys) c.1749C>G (p.Asn583Lys) c.960C>G (p.Asn320Lys) c.2787C>G (p.Asn929Lys) c.2214C>G (p.Asn738Lys) c.2139C>G (p.Asn713Lys) c.816C>G (p.Asn272Lys) | |
| 3 | g.38894956G= | CA1358718308 | SCN11A | c.2412C= (p.Asn804=) c.2232C= (p.Asn744=) c.2456C= (n.2456C=) c.2031C= (p.Asn677=) c.1749C= (p.Asn583=) c.960C= (p.Asn320=) c.2787C= (p.Asn929=) c.2214C= (p.Asn738=) c.2139C= (p.Asn713=) c.816C= (p.Asn272=) | |
| 3 | g.38894956G>T | CA352175202 | SCN11A | c.2412C>A (p.Asn804Lys) c.2232C>A (p.Asn744Lys) c.2456C>A (n.2456C>A) c.2031C>A (p.Asn677Lys) c.1749C>A (p.Asn583Lys) c.960C>A (p.Asn320Lys) c.2787C>A (p.Asn929Lys) c.2214C>A (p.Asn738Lys) c.2139C>A (p.Asn713Lys) c.816C>A (p.Asn272Lys) | |
| 3 | g.38894957T>A | CA352175203 | SCN11A | c.2411A>T (p.Asn804Ile) c.2231A>T (p.Asn744Ile) c.2455A>T (n.2455A>T) c.2030A>T (p.Asn677Ile) c.1748A>T (p.Asn583Ile) c.959A>T (p.Asn320Ile) c.2786A>T (p.Asn929Ile) c.2213A>T (p.Asn738Ile) c.2138A>T (p.Asn713Ile) c.815A>T (p.Asn272Ile) | dbSNP |
| 3 | g.38894957T>C | CA352175204 | SCN11A | c.2411A>G (p.Asn804Ser) c.2231A>G (p.Asn744Ser) c.2455A>G (n.2455A>G) c.2030A>G (p.Asn677Ser) c.1748A>G (p.Asn583Ser) c.959A>G (p.Asn320Ser) c.2786A>G (p.Asn929Ser) c.2213A>G (p.Asn738Ser) c.2138A>G (p.Asn713Ser) c.815A>G (p.Asn272Ser) | COSMIC |
| 3 | g.38894957T>G | CA352175205 | SCN11A | c.2411A>C (p.Asn804Thr) c.2231A>C (p.Asn744Thr) c.2455A>C (n.2455A>C) c.2030A>C (p.Asn677Thr) c.1748A>C (p.Asn583Thr) c.959A>C (p.Asn320Thr) c.2786A>C (p.Asn929Thr) c.2213A>C (p.Asn738Thr) c.2138A>C (p.Asn713Thr) c.815A>C (p.Asn272Thr) | |
| 3 | g.38894957T= | CA1358718309 | SCN11A | c.2411A= (p.Asn804=) c.2231A= (p.Asn744=) c.2455A= (n.2455A=) c.2030A= (p.Asn677=) c.1748A= (p.Asn583=) c.959A= (p.Asn320=) c.2786A= (p.Asn929=) c.2213A= (p.Asn738=) c.2138A= (p.Asn713=) c.815A= (p.Asn272=) | |
| 3 | g.38894958T>A | CA352175206 | SCN11A | c.2410A>T (p.Asn804Tyr) c.2230A>T (p.Asn744Tyr) c.2454A>T (n.2454A>T) c.2029A>T (p.Asn677Tyr) c.1747A>T (p.Asn583Tyr) c.958A>T (p.Asn320Tyr) c.2785A>T (p.Asn929Tyr) c.2212A>T (p.Asn738Tyr) c.2137A>T (p.Asn713Tyr) c.814A>T (p.Asn272Tyr) | |
| 3 | g.38894958T>C | CA352175208 | SCN11A | c.2410A>G (p.Asn804Asp) c.2230A>G (p.Asn744Asp) c.2454A>G (n.2454A>G) c.2029A>G (p.Asn677Asp) c.1747A>G (p.Asn583Asp) c.958A>G (p.Asn320Asp) c.2785A>G (p.Asn929Asp) c.2212A>G (p.Asn738Asp) c.2137A>G (p.Asn713Asp) c.814A>G (p.Asn272Asp) | |
| 3 | g.38894958T>G | CA352175207 | SCN11A | c.2410A>C (p.Asn804His) c.2230A>C (p.Asn744His) c.2454A>C (n.2454A>C) c.2029A>C (p.Asn677His) c.1747A>C (p.Asn583His) c.958A>C (p.Asn320His) c.2785A>C (p.Asn929His) c.2212A>C (p.Asn738His) c.2137A>C (p.Asn713His) c.814A>C (p.Asn272His) | |
| 3 | g.38894959G>A | CA433336251 | SCN11A | c.2409C>T (p.Leu803=) c.2229C>T (p.Leu743=) c.2453C>T (n.2453C>T) c.2028C>T (p.Leu676=) c.1746C>T (p.Leu582=) c.957C>T (p.Leu319=) c.2784C>T (p.Leu928=) c.2211C>T (p.Leu737=) c.2136C>T (p.Leu712=) c.813C>T (p.Leu271=) |