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 |
|---|---|---|---|---|---|
| 8 | g.67158462_67158465del | CA4770795 | CSPP1 | c.2323_2326del (p.Gln775GlufsTer9) c.129_132del c.2347_2350del (p.Gln783GlufsTer9) c.1981_1984del (p.Gln661GlufsTer9) c.2062_2065del (p.Gln688GlufsTer9) c.2176_2179del (p.Gln726GlufsTer9) n.3586_3589del c.2215_2218del (p.Gln739GlufsTer9) c.2242_2245del (p.Gln748GlufsTer9) c.1990_1993del (p.Gln664GlufsTer9) n.5183_5186del c.*881_*884del (n.*881_*884del) c.1558_1561del (p.Gln520GlufsTer9) c.2365_2368del (p.Gln789GlufsTer9) c.2183_2186del (n.2183_2186del) n.3118_3121del c.560_563del c.2236_2239del (p.Gln746GlufsTer9) c.*218_*221del (n.*218_*221del) c.2143_2146del (p.Gln715GlufsTer9) n.1755_1758del c.*1976_*1979del (n.*1976_*1979del) n.2130_2133del c.*273_*276del (n.*273_*276del) c.2224_2227del (p.Gln742GlufsTer9) c.1603_1606del (p.Gln535GlufsTer9) n.225_228del c.*628_*631del (n.*628_*631del) c.1565_1568del (n.1565_1568del) c.1108_1111del (p.Gln370GlufsTer9) n.2420_2423del n.1897_1900del c.1792_1795del (p.Gln598GlufsTer9) c.*1034_*1037del (n.*1034_*1037del) c.2257_2260del (p.Gln753GlufsTer9) n.752_755del c.2134_2137del (p.Gln712GlufsTer9) c.1684_1687del (p.Gln562GlufsTer9) n.1292_1295del n.3082_3085del c.*2156_*2159del (n.*2156_*2159del) n.1181_1184del n.1228_1231del c.*2508_*2511del (n.*2508_*2511del) c.1207_1210del (p.Gln403GlufsTer9) n.247_250del c.2485_2488del (p.Gln829GlufsTer9) c.2332_2335del (p.Gln778GlufsTer9) c.1954_1957del (p.Gln652GlufsTer9) c.2527_2530del (p.Gln843GlufsTer9) c.2503_2506del (p.Gln835GlufsTer9) c.2461_2464del (p.Gln821GlufsTer9) c.2422_2425del (p.Gln808GlufsTer9) c.2380_2383del (p.Gln794GlufsTer9) c.2281_2284del (p.Gln761GlufsTer9) c.1402_1405del (p.Gln468GlufsTer9) c.922_925del (p.Gln308GlufsTer9) c.562_565del (p.Gln188GlufsTer9) c.2386_2389del (p.Gln796GlufsTer9) c.2362_2365del (p.Gln788GlufsTer9) c.2128_2131del (p.Gln710GlufsTer9) c.1930_1933del (p.Gln644GlufsTer9) c.1696_1699del (p.Gln566GlufsTer9) c.769_772del (p.Gln257GlufsTer9) c.1360_1363del (p.Gln454GlufsTer9) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.67158462_67158464delinsCAA | CA1790813255 | CSPP1 | c.2323_2325delinsCAA (p.Gln775=) c.129_131delinsCAA c.2347_2349delinsCAA (p.Gln783=) c.1981_1983delinsCAA (p.Gln661=) c.2062_2064delinsCAA (p.Gln688=) c.2176_2178delinsCAA (p.Gln726=) n.3586_3588delinsCAA c.2215_2217delinsCAA (p.Gln739=) c.2242_2244delinsCAA (p.Gln748=) c.1990_1992delinsCAA (p.Gln664=) n.5183_5185delinsCAA c.*881_*883delinsCAA (n.*881_*883delinsCAA) c.1558_1560delinsCAA (p.Gln520=) c.2365_2367delinsCAA (p.Gln789=) c.2183_2185delinsCAA (n.2183_2185delinsCAA) n.3118_3120delinsCAA c.560_562delinsCAA c.2236_2238delinsCAA (p.Gln746=) c.*218_*220delinsCAA (n.*218_*220delinsCAA) c.2143_2145delinsCAA (p.Gln715=) n.1755_1757delinsCAA c.*1976_*1978delinsCAA (n.*1976_*1978delinsCAA) n.2130_2132delinsCAA c.*273_*275delinsCAA (n.*273_*275delinsCAA) c.2224_2226delinsCAA (p.Gln742=) c.1603_1605delinsCAA (p.Gln535=) n.225_227delinsCAA c.*628_*630delinsCAA (n.*628_*630delinsCAA) c.1565_1567delinsCAA (n.1565_1567delinsCAA) c.1108_1110delinsCAA (p.Gln370=) n.2420_2422delinsCAA n.1897_1899delinsCAA c.1792_1794delinsCAA (p.Gln598=) c.*1034_*1036delinsCAA (n.*1034_*1036delinsCAA) c.2257_2259delinsCAA (p.Gln753=) n.752_754delinsCAA c.2134_2136delinsCAA (p.Gln712=) c.1684_1686delinsCAA (p.Gln562=) n.1292_1294delinsCAA n.3082_3084delinsCAA c.*2156_*2158delinsCAA (n.*2156_*2158delinsCAA) n.1181_1183delinsCAA n.1228_1230delinsCAA c.*2508_*2510delinsCAA (n.*2508_*2510delinsCAA) c.1207_1209delinsCAA (p.Gln403=) n.247_249delinsCAA c.2485_2487delinsCAA (p.Gln829=) c.2332_2334delinsCAA (p.Gln778=) c.1954_1956delinsCAA (p.Gln652=) c.2527_2529delinsCAA (p.Gln843=) c.2503_2505delinsCAA (p.Gln835=) c.2461_2463delinsCAA (p.Gln821=) c.2422_2424delinsCAA (p.Gln808=) c.2380_2382delinsCAA (p.Gln794=) c.2281_2283delinsCAA (p.Gln761=) c.1402_1404delinsCAA (p.Gln468=) c.922_924delinsCAA (p.Gln308=) c.562_564delinsCAA (p.Gln188=) c.2386_2388delinsCAA (p.Gln796=) c.2362_2364delinsCAA (p.Gln788=) c.2128_2130delinsCAA (p.Gln710=) c.1930_1932delinsCAA (p.Gln644=) c.1696_1698delinsCAA (p.Gln566=) c.769_771delinsCAA (p.Gln257=) c.1360_1362delinsCAA (p.Gln454=) | |
| 8 | g.67158462_67158466delinsCAAAG | CA1790813256 | CSPP1 | c.2323_2327delinsCAAAG (p.Gln775=) c.129_133delinsCAAAG c.2347_2351delinsCAAAG (p.Gln783=) c.1981_1985delinsCAAAG (p.Gln661=) c.2062_2066delinsCAAAG (p.Gln688=) c.2176_2180delinsCAAAG (p.Gln726=) n.3586_3590delinsCAAAG c.2215_2219delinsCAAAG (p.Gln739=) c.2242_2246delinsCAAAG (p.Gln748=) c.1990_1994delinsCAAAG (p.Gln664=) n.5183_5187delinsCAAAG c.*881_*885delinsCAAAG (n.*881_*885delinsCAAAG) c.1558_1562delinsCAAAG (p.Gln520=) c.2365_2369delinsCAAAG (p.Gln789=) c.2183_2187delinsCAAAG (n.2183_2187delinsCAAAG) n.3118_3122delinsCAAAG c.560_564delinsCAAAG c.2236_2240delinsCAAAG (p.Gln746=) c.*218_*222delinsCAAAG (n.*218_*222delinsCAAAG) c.2143_2147delinsCAAAG (p.Gln715=) n.1755_1759delinsCAAAG c.*1976_*1980delinsCAAAG (n.*1976_*1980delinsCAAAG) n.2130_2134delinsCAAAG c.*273_*277delinsCAAAG (n.*273_*277delinsCAAAG) c.2224_2228delinsCAAAG (p.Gln742=) c.1603_1607delinsCAAAG (p.Gln535=) n.225_229delinsCAAAG c.*628_*632delinsCAAAG (n.*628_*632delinsCAAAG) c.1565_1569delinsCAAAG (n.1565_1569delinsCAAAG) c.1108_1112delinsCAAAG (p.Gln370=) n.2420_2424delinsCAAAG n.1897_1901delinsCAAAG c.1792_1796delinsCAAAG (p.Gln598=) c.*1034_*1038delinsCAAAG (n.*1034_*1038delinsCAAAG) c.2257_2261delinsCAAAG (p.Gln753=) n.752_756delinsCAAAG c.2134_2138delinsCAAAG (p.Gln712=) c.1684_1688delinsCAAAG (p.Gln562=) n.1292_1296delinsCAAAG n.3082_3086delinsCAAAG c.*2156_*2160delinsCAAAG (n.*2156_*2160delinsCAAAG) n.1181_1185delinsCAAAG n.1228_1232delinsCAAAG c.*2508_*2512delinsCAAAG (n.*2508_*2512delinsCAAAG) c.1207_1211delinsCAAAG (p.Gln403=) n.247_251delinsCAAAG c.2485_2489delinsCAAAG (p.Gln829=) c.2332_2336delinsCAAAG (p.Gln778=) c.1954_1958delinsCAAAG (p.Gln652=) c.2527_2531delinsCAAAG (p.Gln843=) c.2503_2507delinsCAAAG (p.Gln835=) c.2461_2465delinsCAAAG (p.Gln821=) c.2422_2426delinsCAAAG (p.Gln808=) c.2380_2384delinsCAAAG (p.Gln794=) c.2281_2285delinsCAAAG (p.Gln761=) c.1402_1406delinsCAAAG (p.Gln468=) c.922_926delinsCAAAG (p.Gln308=) c.562_566delinsCAAAG (p.Gln188=) c.2386_2390delinsCAAAG (p.Gln796=) c.2362_2366delinsCAAAG (p.Gln788=) c.2128_2132delinsCAAAG (p.Gln710=) c.1930_1934delinsCAAAG (p.Gln644=) c.1696_1700delinsCAAAG (p.Gln566=) c.769_773delinsCAAAG (p.Gln257=) c.1360_1364delinsCAAAG (p.Gln454=) | |
| 8 | g.67158464_67158465del | CA150607 | CSPP1 | c.2325_2326del (p.Glu777GlyfsTer?) c.131_132del c.2349_2350del (p.Glu785GlyfsTer?) c.1983_1984del (p.Glu663GlyfsTer?) c.2064_2065del (p.Glu690GlyfsTer?) c.2178_2179del (p.Glu728GlyfsTer?) n.3588_3589del c.2217_2218del (p.Glu741GlyfsTer?) c.2244_2245del (p.Glu750GlyfsTer?) c.1992_1993del (p.Glu666GlyfsTer?) n.5185_5186del c.*883_*884del (n.*883_*884del) c.1560_1561del (p.Glu522GlyfsTer?) c.2367_2368del (p.Glu791GlyfsTer?) c.2185_2186del (n.2185_2186del) n.3120_3121del c.562_563del c.2238_2239del (p.Glu748GlyfsTer?) c.*220_*221del (n.*220_*221del) c.2145_2146del (p.Glu717GlyfsTer?) n.1757_1758del c.*1978_*1979del (n.*1978_*1979del) n.2132_2133del c.*275_*276del (n.*275_*276del) c.2226_2227del (p.Glu744GlyfsTer?) c.1605_1606del (p.Glu537GlyfsTer?) n.227_228del c.*630_*631del (n.*630_*631del) c.1567_1568del (n.1567_1568del) c.1110_1111del (p.Glu372GlyfsTer?) n.2422_2423del n.1899_1900del c.1794_1795del (p.Glu600GlyfsTer?) c.*1036_*1037del (n.*1036_*1037del) c.2259_2260del (p.Glu755GlyfsTer?) n.754_755del c.2136_2137del (p.Glu714GlyfsTer?) c.1686_1687del (p.Glu564GlyfsTer?) n.1294_1295del n.3084_3085del c.*2158_*2159del (n.*2158_*2159del) n.1183_1184del n.1230_1231del c.*2510_*2511del (n.*2510_*2511del) c.1209_1210del (p.Glu405GlyfsTer?) n.249_250del c.2487_2488del (p.Glu831GlyfsTer?) c.2334_2335del (p.Glu780GlyfsTer?) c.1956_1957del (p.Glu654GlyfsTer?) c.2529_2530del (p.Glu845GlyfsTer?) c.2505_2506del (p.Glu837GlyfsTer?) c.2463_2464del (p.Glu823GlyfsTer?) c.2424_2425del (p.Glu810GlyfsTer?) c.2382_2383del (p.Glu796GlyfsTer?) c.2283_2284del (p.Glu763GlyfsTer?) c.1404_1405del (p.Glu470GlyfsTer?) c.924_925del (p.Glu310GlyfsTer?) c.564_565del (p.Glu190GlyfsTer?) c.2388_2389del (p.Glu798GlyfsTer?) c.2364_2365del (p.Glu790GlyfsTer?) c.2130_2131del (p.Glu712GlyfsTer?) c.1932_1933del (p.Glu646GlyfsTer?) c.1698_1699del (p.Glu568GlyfsTer?) c.771_772del (p.Glu259GlyfsTer?) c.1362_1363del (p.Glu456GlyfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.67158464_67158467del | CA150615 | CSPP1 | c.2325_2328del (p.Glu777LysfsTer7) c.131_134del c.2349_2352del (p.Glu785LysfsTer7) c.1983_1986del (p.Glu663LysfsTer7) c.2064_2067del (p.Glu690LysfsTer7) c.2178_2181del (p.Glu728LysfsTer7) n.3588_3591del c.2217_2220del (p.Glu741LysfsTer7) c.2244_2247del (p.Glu750LysfsTer7) c.1992_1995del (p.Glu666LysfsTer7) n.5185_5188del c.*883_*886del (n.*883_*886del) c.1560_1563del (p.Glu522LysfsTer7) c.2367_2370del (p.Glu791LysfsTer7) c.2185_2188del (n.2185_2188del) n.3120_3123del c.562_565del c.2238_2241del (p.Glu748LysfsTer7) c.*220_*223del (n.*220_*223del) c.2145_2148del (p.Glu717LysfsTer7) n.1757_1760del c.*1978_*1981del (n.*1978_*1981del) n.2132_2135del c.*275_*278del (n.*275_*278del) c.2226_2229del (p.Glu744LysfsTer7) c.1605_1608del (p.Glu537LysfsTer7) n.227_230del c.*630_*633del (n.*630_*633del) c.1567_1570del (n.1567_1570del) c.1110_1113del (p.Glu372LysfsTer7) n.2422_2425del n.1899_1902del c.1794_1797del (p.Glu600LysfsTer7) c.*1036_*1039del (n.*1036_*1039del) c.2259_2262del (p.Glu755LysfsTer7) n.754_757del c.2136_2139del (p.Glu714LysfsTer7) c.1686_1689del (p.Glu564LysfsTer7) n.1294_1297del n.3084_3087del c.*2158_*2161del (n.*2158_*2161del) n.1183_1186del n.1230_1233del c.*2510_*2513del (n.*2510_*2513del) c.1209_1212del (p.Glu405LysfsTer7) n.249_252del c.2487_2490del (p.Glu831LysfsTer7) c.2334_2337del (p.Glu780LysfsTer7) c.1956_1959del (p.Glu654LysfsTer7) c.2529_2532del (p.Glu845LysfsTer7) c.2505_2508del (p.Glu837LysfsTer7) c.2463_2466del (p.Glu823LysfsTer7) c.2424_2427del (p.Glu810LysfsTer7) c.2382_2385del (p.Glu796LysfsTer7) c.2283_2286del (p.Glu763LysfsTer7) c.1404_1407del (p.Glu470LysfsTer7) c.924_927del (p.Glu310LysfsTer7) c.564_567del (p.Glu190LysfsTer7) c.2388_2391del (p.Glu798LysfsTer7) c.2364_2367del (p.Glu790LysfsTer7) c.2130_2133del (p.Glu712LysfsTer7) c.1932_1935del (p.Glu646LysfsTer7) c.1698_1701del (p.Glu568LysfsTer7) c.771_774del (p.Glu259LysfsTer7) c.1362_1365del (p.Glu456LysfsTer7) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.67158464A= | CA1790813258 | CSPP1 | c.2325A= (p.Gln775=) c.131A= c.2349A= (p.Gln783=) c.1983A= (p.Gln661=) c.2064A= (p.Gln688=) c.2178A= (p.Gln726=) n.3588A= c.2217A= (p.Gln739=) c.2244A= (p.Gln748=) c.1992A= (p.Gln664=) n.5185A= c.*883A= (n.*883A=) c.1560A= (p.Gln520=) c.2367A= (p.Gln789=) c.2185A= (n.2185A=) n.3120A= c.562A= c.2238A= (p.Gln746=) c.*220A= (n.*220A=) c.2145A= (p.Gln715=) n.1757A= c.*1978A= (n.*1978A=) n.2132A= c.*275A= (n.*275A=) c.2226A= (p.Gln742=) c.1605A= (p.Gln535=) n.227A= c.*630A= (n.*630A=) c.1567A= (n.1567A=) c.1110A= (p.Gln370=) n.2422A= n.1899A= c.1794A= (p.Gln598=) c.*1036A= (n.*1036A=) c.2259A= (p.Gln753=) n.754A= c.2136A= (p.Gln712=) c.1686A= (p.Gln562=) n.1294A= n.3084A= c.*2158A= (n.*2158A=) n.1183A= n.1230A= c.*2510A= (n.*2510A=) c.1209A= (p.Gln403=) n.249A= c.2487A= (p.Gln829=) c.2334A= (p.Gln778=) c.1956A= (p.Gln652=) c.2529A= (p.Gln843=) c.2505A= (p.Gln835=) c.2463A= (p.Gln821=) c.2424A= (p.Gln808=) c.2382A= (p.Gln794=) c.2283A= (p.Gln761=) c.1404A= (p.Gln468=) c.924A= (p.Gln308=) c.564A= (p.Gln188=) c.2388A= (p.Gln796=) c.2364A= (p.Gln788=) c.2130A= (p.Gln710=) c.1932A= (p.Gln644=) c.1698A= (p.Gln566=) c.771A= (p.Gln257=) c.1362A= (p.Gln454=) | |
| 8 | g.67158464A>C | CA371188380 | CSPP1 | c.2325A>C (p.Gln775His) c.131A>C c.2349A>C (p.Gln783His) c.1983A>C (p.Gln661His) c.2064A>C (p.Gln688His) c.2178A>C (p.Gln726His) n.3588A>C c.2217A>C (p.Gln739His) c.2244A>C (p.Gln748His) c.1992A>C (p.Gln664His) n.5185A>C c.*883A>C (n.*883A>C) c.1560A>C (p.Gln520His) c.2367A>C (p.Gln789His) c.2185A>C (n.2185A>C) n.3120A>C c.562A>C c.2238A>C (p.Gln746His) c.*220A>C (n.*220A>C) c.2145A>C (p.Gln715His) n.1757A>C c.*1978A>C (n.*1978A>C) n.2132A>C c.*275A>C (n.*275A>C) c.2226A>C (p.Gln742His) c.1605A>C (p.Gln535His) n.227A>C c.*630A>C (n.*630A>C) c.1567A>C (n.1567A>C) c.1110A>C (p.Gln370His) n.2422A>C n.1899A>C c.1794A>C (p.Gln598His) c.*1036A>C (n.*1036A>C) c.2259A>C (p.Gln753His) n.754A>C c.2136A>C (p.Gln712His) c.1686A>C (p.Gln562His) n.1294A>C n.3084A>C c.*2158A>C (n.*2158A>C) n.1183A>C n.1230A>C c.*2510A>C (n.*2510A>C) c.1209A>C (p.Gln403His) n.249A>C c.2487A>C (p.Gln829His) c.2334A>C (p.Gln778His) c.1956A>C (p.Gln652His) c.2529A>C (p.Gln843His) c.2505A>C (p.Gln835His) c.2463A>C (p.Gln821His) c.2424A>C (p.Gln808His) c.2382A>C (p.Gln794His) c.2283A>C (p.Gln761His) c.1404A>C (p.Gln468His) c.924A>C (p.Gln308His) c.564A>C (p.Gln188His) c.2388A>C (p.Gln796His) c.2364A>C (p.Gln788His) c.2130A>C (p.Gln710His) c.1932A>C (p.Gln644His) c.1698A>C (p.Gln566His) c.771A>C (p.Gln257His) c.1362A>C (p.Gln454His) | |
| 8 | g.67158464A>G | CA461295965 | CSPP1 | c.2325A>G (p.Gln775=) c.131A>G c.2349A>G (p.Gln783=) c.1983A>G (p.Gln661=) c.2064A>G (p.Gln688=) c.2178A>G (p.Gln726=) n.3588A>G c.2217A>G (p.Gln739=) c.2244A>G (p.Gln748=) c.1992A>G (p.Gln664=) n.5185A>G c.*883A>G (n.*883A>G) c.1560A>G (p.Gln520=) c.2367A>G (p.Gln789=) c.2185A>G (n.2185A>G) n.3120A>G c.562A>G c.2238A>G (p.Gln746=) c.*220A>G (n.*220A>G) c.2145A>G (p.Gln715=) n.1757A>G c.*1978A>G (n.*1978A>G) n.2132A>G c.*275A>G (n.*275A>G) c.2226A>G (p.Gln742=) c.1605A>G (p.Gln535=) n.227A>G c.*630A>G (n.*630A>G) c.1567A>G (n.1567A>G) c.1110A>G (p.Gln370=) n.2422A>G n.1899A>G c.1794A>G (p.Gln598=) c.*1036A>G (n.*1036A>G) c.2259A>G (p.Gln753=) n.754A>G c.2136A>G (p.Gln712=) c.1686A>G (p.Gln562=) n.1294A>G n.3084A>G c.*2158A>G (n.*2158A>G) n.1183A>G n.1230A>G c.*2510A>G (n.*2510A>G) c.1209A>G (p.Gln403=) n.249A>G c.2487A>G (p.Gln829=) c.2334A>G (p.Gln778=) c.1956A>G (p.Gln652=) c.2529A>G (p.Gln843=) c.2505A>G (p.Gln835=) c.2463A>G (p.Gln821=) c.2424A>G (p.Gln808=) c.2382A>G (p.Gln794=) c.2283A>G (p.Gln761=) c.1404A>G (p.Gln468=) c.924A>G (p.Gln308=) c.564A>G (p.Gln188=) c.2388A>G (p.Gln796=) c.2364A>G (p.Gln788=) c.2130A>G (p.Gln710=) c.1932A>G (p.Gln644=) c.1698A>G (p.Gln566=) c.771A>G (p.Gln257=) c.1362A>G (p.Gln454=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.67158464A>T | CA371188382 | CSPP1 | c.2325A>T (p.Gln775His) c.131A>T c.2349A>T (p.Gln783His) c.1983A>T (p.Gln661His) c.2064A>T (p.Gln688His) c.2178A>T (p.Gln726His) n.3588A>T c.2217A>T (p.Gln739His) c.2244A>T (p.Gln748His) c.1992A>T (p.Gln664His) n.5185A>T c.*883A>T (n.*883A>T) c.1560A>T (p.Gln520His) c.2367A>T (p.Gln789His) c.2185A>T (n.2185A>T) n.3120A>T c.562A>T c.2238A>T (p.Gln746His) c.*220A>T (n.*220A>T) c.2145A>T (p.Gln715His) n.1757A>T c.*1978A>T (n.*1978A>T) n.2132A>T c.*275A>T (n.*275A>T) c.2226A>T (p.Gln742His) c.1605A>T (p.Gln535His) n.227A>T c.*630A>T (n.*630A>T) c.1567A>T (n.1567A>T) c.1110A>T (p.Gln370His) n.2422A>T n.1899A>T c.1794A>T (p.Gln598His) c.*1036A>T (n.*1036A>T) c.2259A>T (p.Gln753His) n.754A>T c.2136A>T (p.Gln712His) c.1686A>T (p.Gln562His) n.1294A>T n.3084A>T c.*2158A>T (n.*2158A>T) n.1183A>T n.1230A>T c.*2510A>T (n.*2510A>T) c.1209A>T (p.Gln403His) n.249A>T c.2487A>T (p.Gln829His) c.2334A>T (p.Gln778His) c.1956A>T (p.Gln652His) c.2529A>T (p.Gln843His) c.2505A>T (p.Gln835His) c.2463A>T (p.Gln821His) c.2424A>T (p.Gln808His) c.2382A>T (p.Gln794His) c.2283A>T (p.Gln761His) c.1404A>T (p.Gln468His) c.924A>T (p.Gln308His) c.564A>T (p.Gln188His) c.2388A>T (p.Gln796His) c.2364A>T (p.Gln788His) c.2130A>T (p.Gln710His) c.1932A>T (p.Gln644His) c.1698A>T (p.Gln566His) c.771A>T (p.Gln257His) c.1362A>T (p.Gln454His) | |
| 8 | g.67158464_67158466delinsAAG | CA1790813257 | CSPP1 | c.2325_2327delinsAAG (p.Gln775=) c.131_133delinsAAG c.2349_2351delinsAAG (p.Gln783=) c.1983_1985delinsAAG (p.Gln661=) c.2064_2066delinsAAG (p.Gln688=) c.2178_2180delinsAAG (p.Gln726=) n.3588_3590delinsAAG c.2217_2219delinsAAG (p.Gln739=) c.2244_2246delinsAAG (p.Gln748=) c.1992_1994delinsAAG (p.Gln664=) n.5185_5187delinsAAG c.*883_*885delinsAAG (n.*883_*885delinsAAG) c.1560_1562delinsAAG (p.Gln520=) c.2367_2369delinsAAG (p.Gln789=) c.2185_2187delinsAAG (n.2185_2187delinsAAG) n.3120_3122delinsAAG c.562_564delinsAAG c.2238_2240delinsAAG (p.Gln746=) c.*220_*222delinsAAG (n.*220_*222delinsAAG) c.2145_2147delinsAAG (p.Gln715=) n.1757_1759delinsAAG c.*1978_*1980delinsAAG (n.*1978_*1980delinsAAG) n.2132_2134delinsAAG c.*275_*277delinsAAG (n.*275_*277delinsAAG) c.2226_2228delinsAAG (p.Gln742=) c.1605_1607delinsAAG (p.Gln535=) n.227_229delinsAAG c.*630_*632delinsAAG (n.*630_*632delinsAAG) c.1567_1569delinsAAG (n.1567_1569delinsAAG) c.1110_1112delinsAAG (p.Gln370=) n.2422_2424delinsAAG n.1899_1901delinsAAG c.1794_1796delinsAAG (p.Gln598=) c.*1036_*1038delinsAAG (n.*1036_*1038delinsAAG) c.2259_2261delinsAAG (p.Gln753=) n.754_756delinsAAG c.2136_2138delinsAAG (p.Gln712=) c.1686_1688delinsAAG (p.Gln562=) n.1294_1296delinsAAG n.3084_3086delinsAAG c.*2158_*2160delinsAAG (n.*2158_*2160delinsAAG) n.1183_1185delinsAAG n.1230_1232delinsAAG c.*2510_*2512delinsAAG (n.*2510_*2512delinsAAG) c.1209_1211delinsAAG (p.Gln403=) n.249_251delinsAAG c.2487_2489delinsAAG (p.Gln829=) c.2334_2336delinsAAG (p.Gln778=) c.1956_1958delinsAAG (p.Gln652=) c.2529_2531delinsAAG (p.Gln843=) c.2505_2507delinsAAG (p.Gln835=) c.2463_2465delinsAAG (p.Gln821=) c.2424_2426delinsAAG (p.Gln808=) c.2382_2384delinsAAG (p.Gln794=) c.2283_2285delinsAAG (p.Gln761=) c.1404_1406delinsAAG (p.Gln468=) c.924_926delinsAAG (p.Gln308=) c.564_566delinsAAG (p.Gln188=) c.2388_2390delinsAAG (p.Gln796=) c.2364_2366delinsAAG (p.Gln788=) c.2130_2132delinsAAG (p.Gln710=) c.1932_1934delinsAAG (p.Gln644=) c.1698_1700delinsAAG (p.Gln566=) c.771_773delinsAAG (p.Gln257=) c.1362_1364delinsAAG (p.Gln454=) | |
| 8 | g.67158465A>C | CA461295966 | CSPP1 | c.2326A>C (p.Arg776=) c.132A>C c.2350A>C (p.Arg784=) c.1984A>C (p.Arg662=) c.2065A>C (p.Arg689=) c.2179A>C (p.Arg727=) n.3589A>C c.2218A>C (p.Arg740=) c.2245A>C (p.Arg749=) c.1993A>C (p.Arg665=) n.5186A>C c.*884A>C (n.*884A>C) c.1561A>C (p.Arg521=) c.2368A>C (p.Arg790=) c.2186A>C (n.2186A>C) n.3121A>C c.563A>C c.2239A>C (p.Arg747=) c.*221A>C (n.*221A>C) c.2146A>C (p.Arg716=) n.1758A>C c.*1979A>C (n.*1979A>C) n.2133A>C c.*276A>C (n.*276A>C) c.2227A>C (p.Arg743=) c.1606A>C (p.Arg536=) n.228A>C c.*631A>C (n.*631A>C) c.1568A>C (n.1568A>C) c.1111A>C (p.Arg371=) n.2423A>C n.1900A>C c.1795A>C (p.Arg599=) c.*1037A>C (n.*1037A>C) c.2260A>C (p.Arg754=) n.755A>C c.2137A>C (p.Arg713=) c.1687A>C (p.Arg563=) n.1295A>C n.3085A>C c.*2159A>C (n.*2159A>C) n.1184A>C n.1231A>C c.*2511A>C (n.*2511A>C) c.1210A>C (p.Arg404=) n.250A>C c.2488A>C (p.Arg830=) c.2335A>C (p.Arg779=) c.1957A>C (p.Arg653=) c.2530A>C (p.Arg844=) c.2506A>C (p.Arg836=) c.2464A>C (p.Arg822=) c.2425A>C (p.Arg809=) c.2383A>C (p.Arg795=) c.2284A>C (p.Arg762=) c.1405A>C (p.Arg469=) c.925A>C (p.Arg309=) c.565A>C (p.Arg189=) c.2389A>C (p.Arg797=) c.2365A>C (p.Arg789=) c.2131A>C (p.Arg711=) c.1933A>C (p.Arg645=) c.1699A>C (p.Arg567=) c.772A>C (p.Arg258=) c.1363A>C (p.Arg455=) | |
| 8 | g.67158465A>G | CA371188383 | CSPP1 | c.2326A>G (p.Arg776Gly) c.132A>G c.2350A>G (p.Arg784Gly) c.1984A>G (p.Arg662Gly) c.2065A>G (p.Arg689Gly) c.2179A>G (p.Arg727Gly) n.3589A>G c.2218A>G (p.Arg740Gly) c.2245A>G (p.Arg749Gly) c.1993A>G (p.Arg665Gly) n.5186A>G c.*884A>G (n.*884A>G) c.1561A>G (p.Arg521Gly) c.2368A>G (p.Arg790Gly) c.2186A>G (n.2186A>G) n.3121A>G c.563A>G c.2239A>G (p.Arg747Gly) c.*221A>G (n.*221A>G) c.2146A>G (p.Arg716Gly) n.1758A>G c.*1979A>G (n.*1979A>G) n.2133A>G c.*276A>G (n.*276A>G) c.2227A>G (p.Arg743Gly) c.1606A>G (p.Arg536Gly) n.228A>G c.*631A>G (n.*631A>G) c.1568A>G (n.1568A>G) c.1111A>G (p.Arg371Gly) n.2423A>G n.1900A>G c.1795A>G (p.Arg599Gly) c.*1037A>G (n.*1037A>G) c.2260A>G (p.Arg754Gly) n.755A>G c.2137A>G (p.Arg713Gly) c.1687A>G (p.Arg563Gly) n.1295A>G n.3085A>G c.*2159A>G (n.*2159A>G) n.1184A>G n.1231A>G c.*2511A>G (n.*2511A>G) c.1210A>G (p.Arg404Gly) n.250A>G c.2488A>G (p.Arg830Gly) c.2335A>G (p.Arg779Gly) c.1957A>G (p.Arg653Gly) c.2530A>G (p.Arg844Gly) c.2506A>G (p.Arg836Gly) c.2464A>G (p.Arg822Gly) c.2425A>G (p.Arg809Gly) c.2383A>G (p.Arg795Gly) c.2284A>G (p.Arg762Gly) c.1405A>G (p.Arg469Gly) c.925A>G (p.Arg309Gly) c.565A>G (p.Arg189Gly) c.2389A>G (p.Arg797Gly) c.2365A>G (p.Arg789Gly) c.2131A>G (p.Arg711Gly) c.1933A>G (p.Arg645Gly) c.1699A>G (p.Arg567Gly) c.772A>G (p.Arg258Gly) c.1363A>G (p.Arg455Gly) | |
| 8 | g.67158465A>T | CA371188384 | CSPP1 | c.2326A>T (p.Arg776Ter) c.132A>T c.2350A>T (p.Arg784Ter) c.1984A>T (p.Arg662Ter) c.2065A>T (p.Arg689Ter) c.2179A>T (p.Arg727Ter) n.3589A>T c.2218A>T (p.Arg740Ter) c.2245A>T (p.Arg749Ter) c.1993A>T (p.Arg665Ter) n.5186A>T c.*884A>T (n.*884A>T) c.1561A>T (p.Arg521Ter) c.2368A>T (p.Arg790Ter) c.2186A>T (n.2186A>T) n.3121A>T c.563A>T c.2239A>T (p.Arg747Ter) c.*221A>T (n.*221A>T) c.2146A>T (p.Arg716Ter) n.1758A>T c.*1979A>T (n.*1979A>T) n.2133A>T c.*276A>T (n.*276A>T) c.2227A>T (p.Arg743Ter) c.1606A>T (p.Arg536Ter) n.228A>T c.*631A>T (n.*631A>T) c.1568A>T (n.1568A>T) c.1111A>T (p.Arg371Ter) n.2423A>T n.1900A>T c.1795A>T (p.Arg599Ter) c.*1037A>T (n.*1037A>T) c.2260A>T (p.Arg754Ter) n.755A>T c.2137A>T (p.Arg713Ter) c.1687A>T (p.Arg563Ter) n.1295A>T n.3085A>T c.*2159A>T (n.*2159A>T) n.1184A>T n.1231A>T c.*2511A>T (n.*2511A>T) c.1210A>T (p.Arg404Ter) n.250A>T c.2488A>T (p.Arg830Ter) c.2335A>T (p.Arg779Ter) c.1957A>T (p.Arg653Ter) c.2530A>T (p.Arg844Ter) c.2506A>T (p.Arg836Ter) c.2464A>T (p.Arg822Ter) c.2425A>T (p.Arg809Ter) c.2383A>T (p.Arg795Ter) c.2284A>T (p.Arg762Ter) c.1405A>T (p.Arg469Ter) c.925A>T (p.Arg309Ter) c.565A>T (p.Arg189Ter) c.2389A>T (p.Arg797Ter) c.2365A>T (p.Arg789Ter) c.2131A>T (p.Arg711Ter) c.1933A>T (p.Arg645Ter) c.1699A>T (p.Arg567Ter) c.772A>T (p.Arg258Ter) c.1363A>T (p.Arg455Ter) | |
| 8 | g.67158469_67158470del | CA582502504 | CSPP1 | c.2330_2331del (p.Glu777GlyfsTer30) c.136_137del c.2354_2355del (p.Glu785GlyfsTer30) c.1988_1989del (p.Glu663GlyfsTer30) c.2069_2070del (p.Glu690GlyfsTer30) c.2183_2184del (p.Glu728GlyfsTer30) n.3593_3594del c.2222_2223del (p.Glu741GlyfsTer30) c.2249_2250del (p.Glu750GlyfsTer30) c.1997_1998del (p.Glu666GlyfsTer30) n.5190_5191del c.*888_*889del (n.*888_*889del) c.1565_1566del (p.Glu522GlyfsTer30) c.2372_2373del (p.Glu791GlyfsTer30) c.2190_2191del (n.2190_2191del) n.3125_3126del c.567_568del c.2243_2244del (p.Glu748GlyfsTer30) c.*225_*226del (n.*225_*226del) c.2150_2151del (p.Glu717GlyfsTer30) n.1762_1763del c.*1983_*1984del (n.*1983_*1984del) n.2137_2138del c.*280_*281del (n.*280_*281del) c.2231_2232del (p.Glu744GlyfsTer30) c.1610_1611del (p.Glu537GlyfsTer30) n.232_233del c.*635_*636del (n.*635_*636del) c.1572_1573del (n.1572_1573del) c.1115_1116del (p.Glu372GlyfsTer30) n.2427_2428del n.1904_1905del c.1799_1800del (p.Glu600GlyfsTer30) c.*1041_*1042del (n.*1041_*1042del) c.2264_2265del (p.Glu755GlyfsTer30) n.759_760del c.2141_2142del (p.Glu714GlyfsTer30) c.1691_1692del (p.Glu564GlyfsTer30) n.1299_1300del n.3089_3090del c.*2163_*2164del (n.*2163_*2164del) n.1188_1189del n.1235_1236del c.*2515_*2516del (n.*2515_*2516del) c.1214_1215del (p.Glu405GlyfsTer30) n.254_255del c.2492_2493del (p.Glu831GlyfsTer30) c.2339_2340del (p.Glu780GlyfsTer30) c.1961_1962del (p.Glu654GlyfsTer30) c.2534_2535del (p.Glu845GlyfsTer30) c.2510_2511del (p.Glu837GlyfsTer30) c.2468_2469del (p.Glu823GlyfsTer30) c.2429_2430del (p.Glu810GlyfsTer30) c.2387_2388del (p.Glu796GlyfsTer30) c.2288_2289del (p.Glu763GlyfsTer30) c.1409_1410del (p.Glu470GlyfsTer30) c.929_930del (p.Glu310GlyfsTer30) c.569_570del (p.Glu190GlyfsTer30) c.2393_2394del (p.Glu798GlyfsTer30) c.2369_2370del (p.Glu790GlyfsTer30) c.2135_2136del (p.Glu712GlyfsTer30) c.1937_1938del (p.Glu646GlyfsTer30) c.1703_1704del (p.Glu568GlyfsTer30) c.776_777del (p.Glu259GlyfsTer30) c.1367_1368del (p.Glu456GlyfsTer30) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.67158467_67158470del | CA2518731056 | CSPP1 | c.2328_2331del (p.Glu777LysfsTer7) c.134_137del c.2352_2355del (p.Glu785LysfsTer7) c.1986_1989del (p.Glu663LysfsTer7) c.2067_2070del (p.Glu690LysfsTer7) c.2181_2184del (p.Glu728LysfsTer7) n.3591_3594del c.2220_2223del (p.Glu741LysfsTer7) c.2247_2250del (p.Glu750LysfsTer7) c.1995_1998del (p.Glu666LysfsTer7) n.5188_5191del c.*886_*889del (n.*886_*889del) c.1563_1566del (p.Glu522LysfsTer7) c.2370_2373del (p.Glu791LysfsTer7) c.2188_2191del (n.2188_2191del) n.3123_3126del c.565_568del c.2241_2244del (p.Glu748LysfsTer7) c.*223_*226del (n.*223_*226del) c.2148_2151del (p.Glu717LysfsTer7) n.1760_1763del c.*1981_*1984del (n.*1981_*1984del) n.2135_2138del c.*278_*281del (n.*278_*281del) c.2229_2232del (p.Glu744LysfsTer7) c.1608_1611del (p.Glu537LysfsTer7) n.230_233del c.*633_*636del (n.*633_*636del) c.1570_1573del (n.1570_1573del) c.1113_1116del (p.Glu372LysfsTer7) n.2425_2428del n.1902_1905del c.1797_1800del (p.Glu600LysfsTer7) c.*1039_*1042del (n.*1039_*1042del) c.2262_2265del (p.Glu755LysfsTer7) n.757_760del c.2139_2142del (p.Glu714LysfsTer7) c.1689_1692del (p.Glu564LysfsTer7) n.1297_1300del n.3087_3090del c.*2161_*2164del (n.*2161_*2164del) n.1186_1189del n.1233_1236del c.*2513_*2516del (n.*2513_*2516del) c.1212_1215del (p.Glu405LysfsTer7) n.252_255del c.2490_2493del (p.Glu831LysfsTer7) c.2337_2340del (p.Glu780LysfsTer7) c.1959_1962del (p.Glu654LysfsTer7) c.2532_2535del (p.Glu845LysfsTer7) c.2508_2511del (p.Glu837LysfsTer7) c.2466_2469del (p.Glu823LysfsTer7) c.2427_2430del (p.Glu810LysfsTer7) c.2385_2388del (p.Glu796LysfsTer7) c.2286_2289del (p.Glu763LysfsTer7) c.1407_1410del (p.Glu470LysfsTer7) c.927_930del (p.Glu310LysfsTer7) c.567_570del (p.Glu190LysfsTer7) c.2391_2394del (p.Glu798LysfsTer7) c.2367_2370del (p.Glu790LysfsTer7) c.2133_2136del (p.Glu712LysfsTer7) c.1935_1938del (p.Glu646LysfsTer7) c.1701_1704del (p.Glu568LysfsTer7) c.774_777del (p.Glu259LysfsTer7) c.1365_1368del (p.Glu456LysfsTer7) | gnomAD v4 |
| 8 | g.67158466G>A | CA371188386 | CSPP1 | c.2327G>A (p.Arg776Lys) c.133G>A c.2351G>A (p.Arg784Lys) c.1985G>A (p.Arg662Lys) c.2066G>A (p.Arg689Lys) c.2180G>A (p.Arg727Lys) n.3590G>A c.2219G>A (p.Arg740Lys) c.2246G>A (p.Arg749Lys) c.1994G>A (p.Arg665Lys) n.5187G>A c.*885G>A (n.*885G>A) c.1562G>A (p.Arg521Lys) c.2369G>A (p.Arg790Lys) c.2187G>A (n.2187G>A) n.3122G>A c.564G>A c.2240G>A (p.Arg747Lys) c.*222G>A (n.*222G>A) c.2147G>A (p.Arg716Lys) n.1759G>A c.*1980G>A (n.*1980G>A) n.2134G>A c.*277G>A (n.*277G>A) c.2228G>A (p.Arg743Lys) c.1607G>A (p.Arg536Lys) n.229G>A c.*632G>A (n.*632G>A) c.1569G>A (n.1569G>A) c.1112G>A (p.Arg371Lys) n.2424G>A n.1901G>A c.1796G>A (p.Arg599Lys) c.*1038G>A (n.*1038G>A) c.2261G>A (p.Arg754Lys) n.756G>A c.2138G>A (p.Arg713Lys) c.1688G>A (p.Arg563Lys) n.1296G>A n.3086G>A c.*2160G>A (n.*2160G>A) n.1185G>A n.1232G>A c.*2512G>A (n.*2512G>A) c.1211G>A (p.Arg404Lys) n.251G>A c.2489G>A (p.Arg830Lys) c.2336G>A (p.Arg779Lys) c.1958G>A (p.Arg653Lys) c.2531G>A (p.Arg844Lys) c.2507G>A (p.Arg836Lys) c.2465G>A (p.Arg822Lys) c.2426G>A (p.Arg809Lys) c.2384G>A (p.Arg795Lys) c.2285G>A (p.Arg762Lys) c.1406G>A (p.Arg469Lys) c.926G>A (p.Arg309Lys) c.566G>A (p.Arg189Lys) c.2390G>A (p.Arg797Lys) c.2366G>A (p.Arg789Lys) c.2132G>A (p.Arg711Lys) c.1934G>A (p.Arg645Lys) c.1700G>A (p.Arg567Lys) c.773G>A (p.Arg258Lys) c.1364G>A (p.Arg455Lys) | |
| 8 | g.67158466G>C | CA371188387 | CSPP1 | c.2327G>C (p.Arg776Thr) c.133G>C c.2351G>C (p.Arg784Thr) c.1985G>C (p.Arg662Thr) c.2066G>C (p.Arg689Thr) c.2180G>C (p.Arg727Thr) n.3590G>C c.2219G>C (p.Arg740Thr) c.2246G>C (p.Arg749Thr) c.1994G>C (p.Arg665Thr) n.5187G>C c.*885G>C (n.*885G>C) c.1562G>C (p.Arg521Thr) c.2369G>C (p.Arg790Thr) c.2187G>C (n.2187G>C) n.3122G>C c.564G>C c.2240G>C (p.Arg747Thr) c.*222G>C (n.*222G>C) c.2147G>C (p.Arg716Thr) n.1759G>C c.*1980G>C (n.*1980G>C) n.2134G>C c.*277G>C (n.*277G>C) c.2228G>C (p.Arg743Thr) c.1607G>C (p.Arg536Thr) n.229G>C c.*632G>C (n.*632G>C) c.1569G>C (n.1569G>C) c.1112G>C (p.Arg371Thr) n.2424G>C n.1901G>C c.1796G>C (p.Arg599Thr) c.*1038G>C (n.*1038G>C) c.2261G>C (p.Arg754Thr) n.756G>C c.2138G>C (p.Arg713Thr) c.1688G>C (p.Arg563Thr) n.1296G>C n.3086G>C c.*2160G>C (n.*2160G>C) n.1185G>C n.1232G>C c.*2512G>C (n.*2512G>C) c.1211G>C (p.Arg404Thr) n.251G>C c.2489G>C (p.Arg830Thr) c.2336G>C (p.Arg779Thr) c.1958G>C (p.Arg653Thr) c.2531G>C (p.Arg844Thr) c.2507G>C (p.Arg836Thr) c.2465G>C (p.Arg822Thr) c.2426G>C (p.Arg809Thr) c.2384G>C (p.Arg795Thr) c.2285G>C (p.Arg762Thr) c.1406G>C (p.Arg469Thr) c.926G>C (p.Arg309Thr) c.566G>C (p.Arg189Thr) c.2390G>C (p.Arg797Thr) c.2366G>C (p.Arg789Thr) c.2132G>C (p.Arg711Thr) c.1934G>C (p.Arg645Thr) c.1700G>C (p.Arg567Thr) c.773G>C (p.Arg258Thr) c.1364G>C (p.Arg455Thr) | |
| 8 | g.67158466G>T | CA371188389 | CSPP1 | c.2327G>T (p.Arg776Ile) c.133G>T c.2351G>T (p.Arg784Ile) c.1985G>T (p.Arg662Ile) c.2066G>T (p.Arg689Ile) c.2180G>T (p.Arg727Ile) n.3590G>T c.2219G>T (p.Arg740Ile) c.2246G>T (p.Arg749Ile) c.1994G>T (p.Arg665Ile) n.5187G>T c.*885G>T (n.*885G>T) c.1562G>T (p.Arg521Ile) c.2369G>T (p.Arg790Ile) c.2187G>T (n.2187G>T) n.3122G>T c.564G>T c.2240G>T (p.Arg747Ile) c.*222G>T (n.*222G>T) c.2147G>T (p.Arg716Ile) n.1759G>T c.*1980G>T (n.*1980G>T) n.2134G>T c.*277G>T (n.*277G>T) c.2228G>T (p.Arg743Ile) c.1607G>T (p.Arg536Ile) n.229G>T c.*632G>T (n.*632G>T) c.1569G>T (n.1569G>T) c.1112G>T (p.Arg371Ile) n.2424G>T n.1901G>T c.1796G>T (p.Arg599Ile) c.*1038G>T (n.*1038G>T) c.2261G>T (p.Arg754Ile) n.756G>T c.2138G>T (p.Arg713Ile) c.1688G>T (p.Arg563Ile) n.1296G>T n.3086G>T c.*2160G>T (n.*2160G>T) n.1185G>T n.1232G>T c.*2512G>T (n.*2512G>T) c.1211G>T (p.Arg404Ile) n.251G>T c.2489G>T (p.Arg830Ile) c.2336G>T (p.Arg779Ile) c.1958G>T (p.Arg653Ile) c.2531G>T (p.Arg844Ile) c.2507G>T (p.Arg836Ile) c.2465G>T (p.Arg822Ile) c.2426G>T (p.Arg809Ile) c.2384G>T (p.Arg795Ile) c.2285G>T (p.Arg762Ile) c.1406G>T (p.Arg469Ile) c.926G>T (p.Arg309Ile) c.566G>T (p.Arg189Ile) c.2390G>T (p.Arg797Ile) c.2366G>T (p.Arg789Ile) c.2132G>T (p.Arg711Ile) c.1934G>T (p.Arg645Ile) c.1700G>T (p.Arg567Ile) c.773G>T (p.Arg258Ile) c.1364G>T (p.Arg455Ile) | |
| 8 | g.67158467A= | CA1790813259 | CSPP1 | c.2328A= (p.Arg776=) c.134A= c.2352A= (p.Arg784=) c.1986A= (p.Arg662=) c.2067A= (p.Arg689=) c.2181A= (p.Arg727=) n.3591A= c.2220A= (p.Arg740=) c.2247A= (p.Arg749=) c.1995A= (p.Arg665=) n.5188A= c.*886A= (n.*886A=) c.1563A= (p.Arg521=) c.2370A= (p.Arg790=) c.2188A= (n.2188A=) n.3123A= c.565A= c.2241A= (p.Arg747=) c.*223A= (n.*223A=) c.2148A= (p.Arg716=) n.1760A= c.*1981A= (n.*1981A=) n.2135A= c.*278A= (n.*278A=) c.2229A= (p.Arg743=) c.1608A= (p.Arg536=) n.230A= c.*633A= (n.*633A=) c.1570A= (n.1570A=) c.1113A= (p.Arg371=) n.2425A= n.1902A= c.1797A= (p.Arg599=) c.*1039A= (n.*1039A=) c.2262A= (p.Arg754=) n.757A= c.2139A= (p.Arg713=) c.1689A= (p.Arg563=) n.1297A= n.3087A= c.*2161A= (n.*2161A=) n.1186A= n.1233A= c.*2513A= (n.*2513A=) c.1212A= (p.Arg404=) n.252A= c.2490A= (p.Arg830=) c.2337A= (p.Arg779=) c.1959A= (p.Arg653=) c.2532A= (p.Arg844=) c.2508A= (p.Arg836=) c.2466A= (p.Arg822=) c.2427A= (p.Arg809=) c.2385A= (p.Arg795=) c.2286A= (p.Arg762=) c.1407A= (p.Arg469=) c.927A= (p.Arg309=) c.567A= (p.Arg189=) c.2391A= (p.Arg797=) c.2367A= (p.Arg789=) c.2133A= (p.Arg711=) c.1935A= (p.Arg645=) c.1701A= (p.Arg567=) c.774A= (p.Arg258=) c.1365A= (p.Arg455=) | |
| 8 | g.67158467A>C | CA371188391 | CSPP1 | c.2328A>C (p.Arg776Ser) c.134A>C c.2352A>C (p.Arg784Ser) c.1986A>C (p.Arg662Ser) c.2067A>C (p.Arg689Ser) c.2181A>C (p.Arg727Ser) n.3591A>C c.2220A>C (p.Arg740Ser) c.2247A>C (p.Arg749Ser) c.1995A>C (p.Arg665Ser) n.5188A>C c.*886A>C (n.*886A>C) c.1563A>C (p.Arg521Ser) c.2370A>C (p.Arg790Ser) c.2188A>C (n.2188A>C) n.3123A>C c.565A>C c.2241A>C (p.Arg747Ser) c.*223A>C (n.*223A>C) c.2148A>C (p.Arg716Ser) n.1760A>C c.*1981A>C (n.*1981A>C) n.2135A>C c.*278A>C (n.*278A>C) c.2229A>C (p.Arg743Ser) c.1608A>C (p.Arg536Ser) n.230A>C c.*633A>C (n.*633A>C) c.1570A>C (n.1570A>C) c.1113A>C (p.Arg371Ser) n.2425A>C n.1902A>C c.1797A>C (p.Arg599Ser) c.*1039A>C (n.*1039A>C) c.2262A>C (p.Arg754Ser) n.757A>C c.2139A>C (p.Arg713Ser) c.1689A>C (p.Arg563Ser) n.1297A>C n.3087A>C c.*2161A>C (n.*2161A>C) n.1186A>C n.1233A>C c.*2513A>C (n.*2513A>C) c.1212A>C (p.Arg404Ser) n.252A>C c.2490A>C (p.Arg830Ser) c.2337A>C (p.Arg779Ser) c.1959A>C (p.Arg653Ser) c.2532A>C (p.Arg844Ser) c.2508A>C (p.Arg836Ser) c.2466A>C (p.Arg822Ser) c.2427A>C (p.Arg809Ser) c.2385A>C (p.Arg795Ser) c.2286A>C (p.Arg762Ser) c.1407A>C (p.Arg469Ser) c.927A>C (p.Arg309Ser) c.567A>C (p.Arg189Ser) c.2391A>C (p.Arg797Ser) c.2367A>C (p.Arg789Ser) c.2133A>C (p.Arg711Ser) c.1935A>C (p.Arg645Ser) c.1701A>C (p.Arg567Ser) c.774A>C (p.Arg258Ser) c.1365A>C (p.Arg455Ser) | dbSNP |
| 8 | g.67158467A>G | CA461295967 | CSPP1 | c.2328A>G (p.Arg776=) c.134A>G c.2352A>G (p.Arg784=) c.1986A>G (p.Arg662=) c.2067A>G (p.Arg689=) c.2181A>G (p.Arg727=) n.3591A>G c.2220A>G (p.Arg740=) c.2247A>G (p.Arg749=) c.1995A>G (p.Arg665=) n.5188A>G c.*886A>G (n.*886A>G) c.1563A>G (p.Arg521=) c.2370A>G (p.Arg790=) c.2188A>G (n.2188A>G) n.3123A>G c.565A>G c.2241A>G (p.Arg747=) c.*223A>G (n.*223A>G) c.2148A>G (p.Arg716=) n.1760A>G c.*1981A>G (n.*1981A>G) n.2135A>G c.*278A>G (n.*278A>G) c.2229A>G (p.Arg743=) c.1608A>G (p.Arg536=) n.230A>G c.*633A>G (n.*633A>G) c.1570A>G (n.1570A>G) c.1113A>G (p.Arg371=) n.2425A>G n.1902A>G c.1797A>G (p.Arg599=) c.*1039A>G (n.*1039A>G) c.2262A>G (p.Arg754=) n.757A>G c.2139A>G (p.Arg713=) c.1689A>G (p.Arg563=) n.1297A>G n.3087A>G c.*2161A>G (n.*2161A>G) n.1186A>G n.1233A>G c.*2513A>G (n.*2513A>G) c.1212A>G (p.Arg404=) n.252A>G c.2490A>G (p.Arg830=) c.2337A>G (p.Arg779=) c.1959A>G (p.Arg653=) c.2532A>G (p.Arg844=) c.2508A>G (p.Arg836=) c.2466A>G (p.Arg822=) c.2427A>G (p.Arg809=) c.2385A>G (p.Arg795=) c.2286A>G (p.Arg762=) c.1407A>G (p.Arg469=) c.927A>G (p.Arg309=) c.567A>G (p.Arg189=) c.2391A>G (p.Arg797=) c.2367A>G (p.Arg789=) c.2133A>G (p.Arg711=) c.1935A>G (p.Arg645=) c.1701A>G (p.Arg567=) c.774A>G (p.Arg258=) c.1365A>G (p.Arg455=) | |
| 8 | g.67158467A>T | CA371188390 | CSPP1 | c.2328A>T (p.Arg776Ser) c.134A>T c.2352A>T (p.Arg784Ser) c.1986A>T (p.Arg662Ser) c.2067A>T (p.Arg689Ser) c.2181A>T (p.Arg727Ser) n.3591A>T c.2220A>T (p.Arg740Ser) c.2247A>T (p.Arg749Ser) c.1995A>T (p.Arg665Ser) n.5188A>T c.*886A>T (n.*886A>T) c.1563A>T (p.Arg521Ser) c.2370A>T (p.Arg790Ser) c.2188A>T (n.2188A>T) n.3123A>T c.565A>T c.2241A>T (p.Arg747Ser) c.*223A>T (n.*223A>T) c.2148A>T (p.Arg716Ser) n.1760A>T c.*1981A>T (n.*1981A>T) n.2135A>T c.*278A>T (n.*278A>T) c.2229A>T (p.Arg743Ser) c.1608A>T (p.Arg536Ser) n.230A>T c.*633A>T (n.*633A>T) c.1570A>T (n.1570A>T) c.1113A>T (p.Arg371Ser) n.2425A>T n.1902A>T c.1797A>T (p.Arg599Ser) c.*1039A>T (n.*1039A>T) c.2262A>T (p.Arg754Ser) n.757A>T c.2139A>T (p.Arg713Ser) c.1689A>T (p.Arg563Ser) n.1297A>T n.3087A>T c.*2161A>T (n.*2161A>T) n.1186A>T n.1233A>T c.*2513A>T (n.*2513A>T) c.1212A>T (p.Arg404Ser) n.252A>T c.2490A>T (p.Arg830Ser) c.2337A>T (p.Arg779Ser) c.1959A>T (p.Arg653Ser) c.2532A>T (p.Arg844Ser) c.2508A>T (p.Arg836Ser) c.2466A>T (p.Arg822Ser) c.2427A>T (p.Arg809Ser) c.2385A>T (p.Arg795Ser) c.2286A>T (p.Arg762Ser) c.1407A>T (p.Arg469Ser) c.927A>T (p.Arg309Ser) c.567A>T (p.Arg189Ser) c.2391A>T (p.Arg797Ser) c.2367A>T (p.Arg789Ser) c.2133A>T (p.Arg711Ser) c.1935A>T (p.Arg645Ser) c.1701A>T (p.Arg567Ser) c.774A>T (p.Arg258Ser) c.1365A>T (p.Arg455Ser) | |
| 8 | g.67158468G>A | CA371188393 | CSPP1 | c.2329G>A (p.Glu777Lys) c.135G>A c.2353G>A (p.Glu785Lys) c.1987G>A (p.Glu663Lys) c.2068G>A (p.Glu690Lys) c.2182G>A (p.Glu728Lys) n.3592G>A c.2221G>A (p.Glu741Lys) c.2248G>A (p.Glu750Lys) c.1996G>A (p.Glu666Lys) n.5189G>A c.*887G>A (n.*887G>A) c.1564G>A (p.Glu522Lys) c.2371G>A (p.Glu791Lys) c.2189G>A (n.2189G>A) n.3124G>A c.566G>A c.2242G>A (p.Glu748Lys) c.*224G>A (n.*224G>A) c.2149G>A (p.Glu717Lys) n.1761G>A c.*1982G>A (n.*1982G>A) n.2136G>A c.*279G>A (n.*279G>A) c.2230G>A (p.Glu744Lys) c.1609G>A (p.Glu537Lys) n.231G>A c.*634G>A (n.*634G>A) c.1571G>A (n.1571G>A) c.1114G>A (p.Glu372Lys) n.2426G>A n.1903G>A c.1798G>A (p.Glu600Lys) c.*1040G>A (n.*1040G>A) c.2263G>A (p.Glu755Lys) n.758G>A c.2140G>A (p.Glu714Lys) c.1690G>A (p.Glu564Lys) n.1298G>A n.3088G>A c.*2162G>A (n.*2162G>A) n.1187G>A n.1234G>A c.*2514G>A (n.*2514G>A) c.1213G>A (p.Glu405Lys) n.253G>A c.2491G>A (p.Glu831Lys) c.2338G>A (p.Glu780Lys) c.1960G>A (p.Glu654Lys) c.2533G>A (p.Glu845Lys) c.2509G>A (p.Glu837Lys) c.2467G>A (p.Glu823Lys) c.2428G>A (p.Glu810Lys) c.2386G>A (p.Glu796Lys) c.2287G>A (p.Glu763Lys) c.1408G>A (p.Glu470Lys) c.928G>A (p.Glu310Lys) c.568G>A (p.Glu190Lys) c.2392G>A (p.Glu798Lys) c.2368G>A (p.Glu790Lys) c.2134G>A (p.Glu712Lys) c.1936G>A (p.Glu646Lys) c.1702G>A (p.Glu568Lys) c.775G>A (p.Glu259Lys) c.1366G>A (p.Glu456Lys) | ClinVar |
| 8 | g.67158468G>C | CA371188395 | CSPP1 | c.2329G>C (p.Glu777Gln) c.135G>C c.2353G>C (p.Glu785Gln) c.1987G>C (p.Glu663Gln) c.2068G>C (p.Glu690Gln) c.2182G>C (p.Glu728Gln) n.3592G>C c.2221G>C (p.Glu741Gln) c.2248G>C (p.Glu750Gln) c.1996G>C (p.Glu666Gln) n.5189G>C c.*887G>C (n.*887G>C) c.1564G>C (p.Glu522Gln) c.2371G>C (p.Glu791Gln) c.2189G>C (n.2189G>C) n.3124G>C c.566G>C c.2242G>C (p.Glu748Gln) c.*224G>C (n.*224G>C) c.2149G>C (p.Glu717Gln) n.1761G>C c.*1982G>C (n.*1982G>C) n.2136G>C c.*279G>C (n.*279G>C) c.2230G>C (p.Glu744Gln) c.1609G>C (p.Glu537Gln) n.231G>C c.*634G>C (n.*634G>C) c.1571G>C (n.1571G>C) c.1114G>C (p.Glu372Gln) n.2426G>C n.1903G>C c.1798G>C (p.Glu600Gln) c.*1040G>C (n.*1040G>C) c.2263G>C (p.Glu755Gln) n.758G>C c.2140G>C (p.Glu714Gln) c.1690G>C (p.Glu564Gln) n.1298G>C n.3088G>C c.*2162G>C (n.*2162G>C) n.1187G>C n.1234G>C c.*2514G>C (n.*2514G>C) c.1213G>C (p.Glu405Gln) n.253G>C c.2491G>C (p.Glu831Gln) c.2338G>C (p.Glu780Gln) c.1960G>C (p.Glu654Gln) c.2533G>C (p.Glu845Gln) c.2509G>C (p.Glu837Gln) c.2467G>C (p.Glu823Gln) c.2428G>C (p.Glu810Gln) c.2386G>C (p.Glu796Gln) c.2287G>C (p.Glu763Gln) c.1408G>C (p.Glu470Gln) c.928G>C (p.Glu310Gln) c.568G>C (p.Glu190Gln) c.2392G>C (p.Glu798Gln) c.2368G>C (p.Glu790Gln) c.2134G>C (p.Glu712Gln) c.1936G>C (p.Glu646Gln) c.1702G>C (p.Glu568Gln) c.775G>C (p.Glu259Gln) c.1366G>C (p.Glu456Gln) | |
| 8 | g.67158468G>T | CA371188397 | CSPP1 | c.2329G>T (p.Glu777Ter) c.135G>T c.2353G>T (p.Glu785Ter) c.1987G>T (p.Glu663Ter) c.2068G>T (p.Glu690Ter) c.2182G>T (p.Glu728Ter) n.3592G>T c.2221G>T (p.Glu741Ter) c.2248G>T (p.Glu750Ter) c.1996G>T (p.Glu666Ter) n.5189G>T c.*887G>T (n.*887G>T) c.1564G>T (p.Glu522Ter) c.2371G>T (p.Glu791Ter) c.2189G>T (n.2189G>T) n.3124G>T c.566G>T c.2242G>T (p.Glu748Ter) c.*224G>T (n.*224G>T) c.2149G>T (p.Glu717Ter) n.1761G>T c.*1982G>T (n.*1982G>T) n.2136G>T c.*279G>T (n.*279G>T) c.2230G>T (p.Glu744Ter) c.1609G>T (p.Glu537Ter) n.231G>T c.*634G>T (n.*634G>T) c.1571G>T (n.1571G>T) c.1114G>T (p.Glu372Ter) n.2426G>T n.1903G>T c.1798G>T (p.Glu600Ter) c.*1040G>T (n.*1040G>T) c.2263G>T (p.Glu755Ter) n.758G>T c.2140G>T (p.Glu714Ter) c.1690G>T (p.Glu564Ter) n.1298G>T n.3088G>T c.*2162G>T (n.*2162G>T) n.1187G>T n.1234G>T c.*2514G>T (n.*2514G>T) c.1213G>T (p.Glu405Ter) n.253G>T c.2491G>T (p.Glu831Ter) c.2338G>T (p.Glu780Ter) c.1960G>T (p.Glu654Ter) c.2533G>T (p.Glu845Ter) c.2509G>T (p.Glu837Ter) c.2467G>T (p.Glu823Ter) c.2428G>T (p.Glu810Ter) c.2386G>T (p.Glu796Ter) c.2287G>T (p.Glu763Ter) c.1408G>T (p.Glu470Ter) c.928G>T (p.Glu310Ter) c.568G>T (p.Glu190Ter) c.2392G>T (p.Glu798Ter) c.2368G>T (p.Glu790Ter) c.2134G>T (p.Glu712Ter) c.1936G>T (p.Glu646Ter) c.1702G>T (p.Glu568Ter) c.775G>T (p.Glu259Ter) c.1366G>T (p.Glu456Ter) | |
| 8 | g.67158469A= | CA1790813260 | CSPP1 | c.2330A= (p.Glu777=) c.136A= c.2354A= (p.Glu785=) c.1988A= (p.Glu663=) c.2069A= (p.Glu690=) c.2183A= (p.Glu728=) n.3593A= c.2222A= (p.Glu741=) c.2249A= (p.Glu750=) c.1997A= (p.Glu666=) n.5190A= c.*888A= (n.*888A=) c.1565A= (p.Glu522=) c.2372A= (p.Glu791=) c.2190A= (n.2190A=) n.3125A= c.567A= c.2243A= (p.Glu748=) c.*225A= (n.*225A=) c.2150A= (p.Glu717=) n.1762A= c.*1983A= (n.*1983A=) n.2137A= c.*280A= (n.*280A=) c.2231A= (p.Glu744=) c.1610A= (p.Glu537=) n.232A= c.*635A= (n.*635A=) c.1572A= (n.1572A=) c.1115A= (p.Glu372=) n.2427A= n.1904A= c.1799A= (p.Glu600=) c.*1041A= (n.*1041A=) c.2264A= (p.Glu755=) n.759A= c.2141A= (p.Glu714=) c.1691A= (p.Glu564=) n.1299A= n.3089A= c.*2163A= (n.*2163A=) n.1188A= n.1235A= c.*2515A= (n.*2515A=) c.1214A= (p.Glu405=) n.254A= c.2492A= (p.Glu831=) c.2339A= (p.Glu780=) c.1961A= (p.Glu654=) c.2534A= (p.Glu845=) c.2510A= (p.Glu837=) c.2468A= (p.Glu823=) c.2429A= (p.Glu810=) c.2387A= (p.Glu796=) c.2288A= (p.Glu763=) c.1409A= (p.Glu470=) c.929A= (p.Glu310=) c.569A= (p.Glu190=) c.2393A= (p.Glu798=) c.2369A= (p.Glu790=) c.2135A= (p.Glu712=) c.1937A= (p.Glu646=) c.1703A= (p.Glu568=) c.776A= (p.Glu259=) c.1367A= (p.Glu456=) | |
| 8 | g.67158469A>C | CA371188398 | CSPP1 | c.2330A>C (p.Glu777Ala) c.136A>C c.2354A>C (p.Glu785Ala) c.1988A>C (p.Glu663Ala) c.2069A>C (p.Glu690Ala) c.2183A>C (p.Glu728Ala) n.3593A>C c.2222A>C (p.Glu741Ala) c.2249A>C (p.Glu750Ala) c.1997A>C (p.Glu666Ala) n.5190A>C c.*888A>C (n.*888A>C) c.1565A>C (p.Glu522Ala) c.2372A>C (p.Glu791Ala) c.2190A>C (n.2190A>C) n.3125A>C c.567A>C c.2243A>C (p.Glu748Ala) c.*225A>C (n.*225A>C) c.2150A>C (p.Glu717Ala) n.1762A>C c.*1983A>C (n.*1983A>C) n.2137A>C c.*280A>C (n.*280A>C) c.2231A>C (p.Glu744Ala) c.1610A>C (p.Glu537Ala) n.232A>C c.*635A>C (n.*635A>C) c.1572A>C (n.1572A>C) c.1115A>C (p.Glu372Ala) n.2427A>C n.1904A>C c.1799A>C (p.Glu600Ala) c.*1041A>C (n.*1041A>C) c.2264A>C (p.Glu755Ala) n.759A>C c.2141A>C (p.Glu714Ala) c.1691A>C (p.Glu564Ala) n.1299A>C n.3089A>C c.*2163A>C (n.*2163A>C) n.1188A>C n.1235A>C c.*2515A>C (n.*2515A>C) c.1214A>C (p.Glu405Ala) n.254A>C c.2492A>C (p.Glu831Ala) c.2339A>C (p.Glu780Ala) c.1961A>C (p.Glu654Ala) c.2534A>C (p.Glu845Ala) c.2510A>C (p.Glu837Ala) c.2468A>C (p.Glu823Ala) c.2429A>C (p.Glu810Ala) c.2387A>C (p.Glu796Ala) c.2288A>C (p.Glu763Ala) c.1409A>C (p.Glu470Ala) c.929A>C (p.Glu310Ala) c.569A>C (p.Glu190Ala) c.2393A>C (p.Glu798Ala) c.2369A>C (p.Glu790Ala) c.2135A>C (p.Glu712Ala) c.1937A>C (p.Glu646Ala) c.1703A>C (p.Glu568Ala) c.776A>C (p.Glu259Ala) c.1367A>C (p.Glu456Ala) | |
| 8 | g.67158469A>G | CA178189953 | CSPP1 | c.2330A>G (p.Glu777Gly) c.136A>G c.2354A>G (p.Glu785Gly) c.1988A>G (p.Glu663Gly) c.2069A>G (p.Glu690Gly) c.2183A>G (p.Glu728Gly) n.3593A>G c.2222A>G (p.Glu741Gly) c.2249A>G (p.Glu750Gly) c.1997A>G (p.Glu666Gly) n.5190A>G c.*888A>G (n.*888A>G) c.1565A>G (p.Glu522Gly) c.2372A>G (p.Glu791Gly) c.2190A>G (n.2190A>G) n.3125A>G c.567A>G c.2243A>G (p.Glu748Gly) c.*225A>G (n.*225A>G) c.2150A>G (p.Glu717Gly) n.1762A>G c.*1983A>G (n.*1983A>G) n.2137A>G c.*280A>G (n.*280A>G) c.2231A>G (p.Glu744Gly) c.1610A>G (p.Glu537Gly) n.232A>G c.*635A>G (n.*635A>G) c.1572A>G (n.1572A>G) c.1115A>G (p.Glu372Gly) n.2427A>G n.1904A>G c.1799A>G (p.Glu600Gly) c.*1041A>G (n.*1041A>G) c.2264A>G (p.Glu755Gly) n.759A>G c.2141A>G (p.Glu714Gly) c.1691A>G (p.Glu564Gly) n.1299A>G n.3089A>G c.*2163A>G (n.*2163A>G) n.1188A>G n.1235A>G c.*2515A>G (n.*2515A>G) c.1214A>G (p.Glu405Gly) n.254A>G c.2492A>G (p.Glu831Gly) c.2339A>G (p.Glu780Gly) c.1961A>G (p.Glu654Gly) c.2534A>G (p.Glu845Gly) c.2510A>G (p.Glu837Gly) c.2468A>G (p.Glu823Gly) c.2429A>G (p.Glu810Gly) c.2387A>G (p.Glu796Gly) c.2288A>G (p.Glu763Gly) c.1409A>G (p.Glu470Gly) c.929A>G (p.Glu310Gly) c.569A>G (p.Glu190Gly) c.2393A>G (p.Glu798Gly) c.2369A>G (p.Glu790Gly) c.2135A>G (p.Glu712Gly) c.1937A>G (p.Glu646Gly) c.1703A>G (p.Glu568Gly) c.776A>G (p.Glu259Gly) c.1367A>G (p.Glu456Gly) | dbSNP gnomAD v4 |
| 8 | g.67158469A>T | CA371188401 | CSPP1 | c.2330A>T (p.Glu777Val) c.136A>T c.2354A>T (p.Glu785Val) c.1988A>T (p.Glu663Val) c.2069A>T (p.Glu690Val) c.2183A>T (p.Glu728Val) n.3593A>T c.2222A>T (p.Glu741Val) c.2249A>T (p.Glu750Val) c.1997A>T (p.Glu666Val) n.5190A>T c.*888A>T (n.*888A>T) c.1565A>T (p.Glu522Val) c.2372A>T (p.Glu791Val) c.2190A>T (n.2190A>T) n.3125A>T c.567A>T c.2243A>T (p.Glu748Val) c.*225A>T (n.*225A>T) c.2150A>T (p.Glu717Val) n.1762A>T c.*1983A>T (n.*1983A>T) n.2137A>T c.*280A>T (n.*280A>T) c.2231A>T (p.Glu744Val) c.1610A>T (p.Glu537Val) n.232A>T c.*635A>T (n.*635A>T) c.1572A>T (n.1572A>T) c.1115A>T (p.Glu372Val) n.2427A>T n.1904A>T c.1799A>T (p.Glu600Val) c.*1041A>T (n.*1041A>T) c.2264A>T (p.Glu755Val) n.759A>T c.2141A>T (p.Glu714Val) c.1691A>T (p.Glu564Val) n.1299A>T n.3089A>T c.*2163A>T (n.*2163A>T) n.1188A>T n.1235A>T c.*2515A>T (n.*2515A>T) c.1214A>T (p.Glu405Val) n.254A>T c.2492A>T (p.Glu831Val) c.2339A>T (p.Glu780Val) c.1961A>T (p.Glu654Val) c.2534A>T (p.Glu845Val) c.2510A>T (p.Glu837Val) c.2468A>T (p.Glu823Val) c.2429A>T (p.Glu810Val) c.2387A>T (p.Glu796Val) c.2288A>T (p.Glu763Val) c.1409A>T (p.Glu470Val) c.929A>T (p.Glu310Val) c.569A>T (p.Glu190Val) c.2393A>T (p.Glu798Val) c.2369A>T (p.Glu790Val) c.2135A>T (p.Glu712Val) c.1937A>T (p.Glu646Val) c.1703A>T (p.Glu568Val) c.776A>T (p.Glu259Val) c.1367A>T (p.Glu456Val) | |
| 8 | g.67158470G>A | CA461295968 | CSPP1 | c.2331G>A (p.Glu777=) c.137G>A c.2355G>A (p.Glu785=) c.1989G>A (p.Glu663=) c.2070G>A (p.Glu690=) c.2184G>A (p.Glu728=) n.3594G>A c.2223G>A (p.Glu741=) c.2250G>A (p.Glu750=) c.1998G>A (p.Glu666=) n.5191G>A c.*889G>A (n.*889G>A) c.1566G>A (p.Glu522=) c.2373G>A (p.Glu791=) c.2191G>A (n.2191G>A) n.3126G>A c.568G>A c.2244G>A (p.Glu748=) c.*226G>A (n.*226G>A) c.2151G>A (p.Glu717=) n.1763G>A c.*1984G>A (n.*1984G>A) n.2138G>A c.*281G>A (n.*281G>A) c.2232G>A (p.Glu744=) c.1611G>A (p.Glu537=) n.233G>A c.*636G>A (n.*636G>A) c.1573G>A (n.1573G>A) c.1116G>A (p.Glu372=) n.2428G>A n.1905G>A c.1800G>A (p.Glu600=) c.*1042G>A (n.*1042G>A) c.2265G>A (p.Glu755=) n.760G>A c.2142G>A (p.Glu714=) c.1692G>A (p.Glu564=) n.1300G>A n.3090G>A c.*2164G>A (n.*2164G>A) n.1189G>A n.1236G>A c.*2516G>A (n.*2516G>A) c.1215G>A (p.Glu405=) n.255G>A c.2493G>A (p.Glu831=) c.2340G>A (p.Glu780=) c.1962G>A (p.Glu654=) c.2535G>A (p.Glu845=) c.2511G>A (p.Glu837=) c.2469G>A (p.Glu823=) c.2430G>A (p.Glu810=) c.2388G>A (p.Glu796=) c.2289G>A (p.Glu763=) c.1410G>A (p.Glu470=) c.930G>A (p.Glu310=) c.570G>A (p.Glu190=) c.2394G>A (p.Glu798=) c.2370G>A (p.Glu790=) c.2136G>A (p.Glu712=) c.1938G>A (p.Glu646=) c.1704G>A (p.Glu568=) c.777G>A (p.Glu259=) c.1368G>A (p.Glu456=) | gnomAD v4 |
| 8 | g.67158470G>C | CA371188403 | CSPP1 | c.2331G>C (p.Glu777Asp) c.137G>C c.2355G>C (p.Glu785Asp) c.1989G>C (p.Glu663Asp) c.2070G>C (p.Glu690Asp) c.2184G>C (p.Glu728Asp) n.3594G>C c.2223G>C (p.Glu741Asp) c.2250G>C (p.Glu750Asp) c.1998G>C (p.Glu666Asp) n.5191G>C c.*889G>C (n.*889G>C) c.1566G>C (p.Glu522Asp) c.2373G>C (p.Glu791Asp) c.2191G>C (n.2191G>C) n.3126G>C c.568G>C c.2244G>C (p.Glu748Asp) c.*226G>C (n.*226G>C) c.2151G>C (p.Glu717Asp) n.1763G>C c.*1984G>C (n.*1984G>C) n.2138G>C c.*281G>C (n.*281G>C) c.2232G>C (p.Glu744Asp) c.1611G>C (p.Glu537Asp) n.233G>C c.*636G>C (n.*636G>C) c.1573G>C (n.1573G>C) c.1116G>C (p.Glu372Asp) n.2428G>C n.1905G>C c.1800G>C (p.Glu600Asp) c.*1042G>C (n.*1042G>C) c.2265G>C (p.Glu755Asp) n.760G>C c.2142G>C (p.Glu714Asp) c.1692G>C (p.Glu564Asp) n.1300G>C n.3090G>C c.*2164G>C (n.*2164G>C) n.1189G>C n.1236G>C c.*2516G>C (n.*2516G>C) c.1215G>C (p.Glu405Asp) n.255G>C c.2493G>C (p.Glu831Asp) c.2340G>C (p.Glu780Asp) c.1962G>C (p.Glu654Asp) c.2535G>C (p.Glu845Asp) c.2511G>C (p.Glu837Asp) c.2469G>C (p.Glu823Asp) c.2430G>C (p.Glu810Asp) c.2388G>C (p.Glu796Asp) c.2289G>C (p.Glu763Asp) c.1410G>C (p.Glu470Asp) c.930G>C (p.Glu310Asp) c.570G>C (p.Glu190Asp) c.2394G>C (p.Glu798Asp) c.2370G>C (p.Glu790Asp) c.2136G>C (p.Glu712Asp) c.1938G>C (p.Glu646Asp) c.1704G>C (p.Glu568Asp) c.777G>C (p.Glu259Asp) c.1368G>C (p.Glu456Asp) | |
| 8 | g.67158470G>T | CA371188404 | CSPP1 | c.2331G>T (p.Glu777Asp) c.137G>T c.2355G>T (p.Glu785Asp) c.1989G>T (p.Glu663Asp) c.2070G>T (p.Glu690Asp) c.2184G>T (p.Glu728Asp) n.3594G>T c.2223G>T (p.Glu741Asp) c.2250G>T (p.Glu750Asp) c.1998G>T (p.Glu666Asp) n.5191G>T c.*889G>T (n.*889G>T) c.1566G>T (p.Glu522Asp) c.2373G>T (p.Glu791Asp) c.2191G>T (n.2191G>T) n.3126G>T c.568G>T c.2244G>T (p.Glu748Asp) c.*226G>T (n.*226G>T) c.2151G>T (p.Glu717Asp) n.1763G>T c.*1984G>T (n.*1984G>T) n.2138G>T c.*281G>T (n.*281G>T) c.2232G>T (p.Glu744Asp) c.1611G>T (p.Glu537Asp) n.233G>T c.*636G>T (n.*636G>T) c.1573G>T (n.1573G>T) c.1116G>T (p.Glu372Asp) n.2428G>T n.1905G>T c.1800G>T (p.Glu600Asp) c.*1042G>T (n.*1042G>T) c.2265G>T (p.Glu755Asp) n.760G>T c.2142G>T (p.Glu714Asp) c.1692G>T (p.Glu564Asp) n.1300G>T n.3090G>T c.*2164G>T (n.*2164G>T) n.1189G>T n.1236G>T c.*2516G>T (n.*2516G>T) c.1215G>T (p.Glu405Asp) n.255G>T c.2493G>T (p.Glu831Asp) c.2340G>T (p.Glu780Asp) c.1962G>T (p.Glu654Asp) c.2535G>T (p.Glu845Asp) c.2511G>T (p.Glu837Asp) c.2469G>T (p.Glu823Asp) c.2430G>T (p.Glu810Asp) c.2388G>T (p.Glu796Asp) c.2289G>T (p.Glu763Asp) c.1410G>T (p.Glu470Asp) c.930G>T (p.Glu310Asp) c.570G>T (p.Glu190Asp) c.2394G>T (p.Glu798Asp) c.2370G>T (p.Glu790Asp) c.2136G>T (p.Glu712Asp) c.1938G>T (p.Glu646Asp) c.1704G>T (p.Glu568Asp) c.777G>T (p.Glu259Asp) c.1368G>T (p.Glu456Asp) | gnomAD v4 |
| 8 | g.67158471G>A | CA178189957 | CSPP1 | c.2332G>A (p.Glu778Lys) c.138G>A c.2356G>A (p.Glu786Lys) c.1990G>A (p.Glu664Lys) c.2071G>A (p.Glu691Lys) c.2185G>A (p.Glu729Lys) n.3595G>A c.2224G>A (p.Glu742Lys) c.2251G>A (p.Glu751Lys) c.1999G>A (p.Glu667Lys) n.5192G>A c.*890G>A (n.*890G>A) c.1567G>A (p.Glu523Lys) c.2374G>A (p.Glu792Lys) c.2192G>A (n.2192G>A) n.3127G>A c.569G>A c.2245G>A (p.Glu749Lys) c.*227G>A (n.*227G>A) c.2152G>A (p.Glu718Lys) n.1764G>A c.*1985G>A (n.*1985G>A) n.2139G>A c.*282G>A (n.*282G>A) c.2233G>A (p.Glu745Lys) c.1612G>A (p.Glu538Lys) n.234G>A c.*637G>A (n.*637G>A) c.1574G>A (n.1574G>A) c.1117G>A (p.Glu373Lys) n.2429G>A n.1906G>A c.1801G>A (p.Glu601Lys) c.*1043G>A (n.*1043G>A) c.2266G>A (p.Glu756Lys) n.761G>A c.2143G>A (p.Glu715Lys) c.1693G>A (p.Glu565Lys) n.1301G>A n.3091G>A c.*2165G>A (n.*2165G>A) n.1190G>A n.1237G>A c.*2517G>A (n.*2517G>A) c.1216G>A (p.Glu406Lys) n.256G>A c.2494G>A (p.Glu832Lys) c.2341G>A (p.Glu781Lys) c.1963G>A (p.Glu655Lys) c.2536G>A (p.Glu846Lys) c.2512G>A (p.Glu838Lys) c.2470G>A (p.Glu824Lys) c.2431G>A (p.Glu811Lys) c.2389G>A (p.Glu797Lys) c.2290G>A (p.Glu764Lys) c.1411G>A (p.Glu471Lys) c.931G>A (p.Glu311Lys) c.571G>A (p.Glu191Lys) c.2395G>A (p.Glu799Lys) c.2371G>A (p.Glu791Lys) c.2137G>A (p.Glu713Lys) c.1939G>A (p.Glu647Lys) c.1705G>A (p.Glu569Lys) c.778G>A (p.Glu260Lys) c.1369G>A (p.Glu457Lys) | dbSNP gnomAD v4 |
| 8 | g.67158471G>C | CA371188408 | CSPP1 | c.2332G>C (p.Glu778Gln) c.138G>C c.2356G>C (p.Glu786Gln) c.1990G>C (p.Glu664Gln) c.2071G>C (p.Glu691Gln) c.2185G>C (p.Glu729Gln) n.3595G>C c.2224G>C (p.Glu742Gln) c.2251G>C (p.Glu751Gln) c.1999G>C (p.Glu667Gln) n.5192G>C c.*890G>C (n.*890G>C) c.1567G>C (p.Glu523Gln) c.2374G>C (p.Glu792Gln) c.2192G>C (n.2192G>C) n.3127G>C c.569G>C c.2245G>C (p.Glu749Gln) c.*227G>C (n.*227G>C) c.2152G>C (p.Glu718Gln) n.1764G>C c.*1985G>C (n.*1985G>C) n.2139G>C c.*282G>C (n.*282G>C) c.2233G>C (p.Glu745Gln) c.1612G>C (p.Glu538Gln) n.234G>C c.*637G>C (n.*637G>C) c.1574G>C (n.1574G>C) c.1117G>C (p.Glu373Gln) n.2429G>C n.1906G>C c.1801G>C (p.Glu601Gln) c.*1043G>C (n.*1043G>C) c.2266G>C (p.Glu756Gln) n.761G>C c.2143G>C (p.Glu715Gln) c.1693G>C (p.Glu565Gln) n.1301G>C n.3091G>C c.*2165G>C (n.*2165G>C) n.1190G>C n.1237G>C c.*2517G>C (n.*2517G>C) c.1216G>C (p.Glu406Gln) n.256G>C c.2494G>C (p.Glu832Gln) c.2341G>C (p.Glu781Gln) c.1963G>C (p.Glu655Gln) c.2536G>C (p.Glu846Gln) c.2512G>C (p.Glu838Gln) c.2470G>C (p.Glu824Gln) c.2431G>C (p.Glu811Gln) c.2389G>C (p.Glu797Gln) c.2290G>C (p.Glu764Gln) c.1411G>C (p.Glu471Gln) c.931G>C (p.Glu311Gln) c.571G>C (p.Glu191Gln) c.2395G>C (p.Glu799Gln) c.2371G>C (p.Glu791Gln) c.2137G>C (p.Glu713Gln) c.1939G>C (p.Glu647Gln) c.1705G>C (p.Glu569Gln) c.778G>C (p.Glu260Gln) c.1369G>C (p.Glu457Gln) | |
| 8 | g.67158471G= | CA1790813261 | CSPP1 | c.2332G= (p.Glu778=) c.138G= c.2356G= (p.Glu786=) c.1990G= (p.Glu664=) c.2071G= (p.Glu691=) c.2185G= (p.Glu729=) n.3595G= c.2224G= (p.Glu742=) c.2251G= (p.Glu751=) c.1999G= (p.Glu667=) n.5192G= c.*890G= (n.*890G=) c.1567G= (p.Glu523=) c.2374G= (p.Glu792=) c.2192G= (n.2192G=) n.3127G= c.569G= c.2245G= (p.Glu749=) c.*227G= (n.*227G=) c.2152G= (p.Glu718=) n.1764G= c.*1985G= (n.*1985G=) n.2139G= c.*282G= (n.*282G=) c.2233G= (p.Glu745=) c.1612G= (p.Glu538=) n.234G= c.*637G= (n.*637G=) c.1574G= (n.1574G=) c.1117G= (p.Glu373=) n.2429G= n.1906G= c.1801G= (p.Glu601=) c.*1043G= (n.*1043G=) c.2266G= (p.Glu756=) n.761G= c.2143G= (p.Glu715=) c.1693G= (p.Glu565=) n.1301G= n.3091G= c.*2165G= (n.*2165G=) n.1190G= n.1237G= c.*2517G= (n.*2517G=) c.1216G= (p.Glu406=) n.256G= c.2494G= (p.Glu832=) c.2341G= (p.Glu781=) c.1963G= (p.Glu655=) c.2536G= (p.Glu846=) c.2512G= (p.Glu838=) c.2470G= (p.Glu824=) c.2431G= (p.Glu811=) c.2389G= (p.Glu797=) c.2290G= (p.Glu764=) c.1411G= (p.Glu471=) c.931G= (p.Glu311=) c.571G= (p.Glu191=) c.2395G= (p.Glu799=) c.2371G= (p.Glu791=) c.2137G= (p.Glu713=) c.1939G= (p.Glu647=) c.1705G= (p.Glu569=) c.778G= (p.Glu260=) c.1369G= (p.Glu457=) | |
| 8 | g.67158471G>T | CA371188407 | CSPP1 | c.2332G>T (p.Glu778Ter) c.138G>T c.2356G>T (p.Glu786Ter) c.1990G>T (p.Glu664Ter) c.2071G>T (p.Glu691Ter) c.2185G>T (p.Glu729Ter) n.3595G>T c.2224G>T (p.Glu742Ter) c.2251G>T (p.Glu751Ter) c.1999G>T (p.Glu667Ter) n.5192G>T c.*890G>T (n.*890G>T) c.1567G>T (p.Glu523Ter) c.2374G>T (p.Glu792Ter) c.2192G>T (n.2192G>T) n.3127G>T c.569G>T c.2245G>T (p.Glu749Ter) c.*227G>T (n.*227G>T) c.2152G>T (p.Glu718Ter) n.1764G>T c.*1985G>T (n.*1985G>T) n.2139G>T c.*282G>T (n.*282G>T) c.2233G>T (p.Glu745Ter) c.1612G>T (p.Glu538Ter) n.234G>T c.*637G>T (n.*637G>T) c.1574G>T (n.1574G>T) c.1117G>T (p.Glu373Ter) n.2429G>T n.1906G>T c.1801G>T (p.Glu601Ter) c.*1043G>T (n.*1043G>T) c.2266G>T (p.Glu756Ter) n.761G>T c.2143G>T (p.Glu715Ter) c.1693G>T (p.Glu565Ter) n.1301G>T n.3091G>T c.*2165G>T (n.*2165G>T) n.1190G>T n.1237G>T c.*2517G>T (n.*2517G>T) c.1216G>T (p.Glu406Ter) n.256G>T c.2494G>T (p.Glu832Ter) c.2341G>T (p.Glu781Ter) c.1963G>T (p.Glu655Ter) c.2536G>T (p.Glu846Ter) c.2512G>T (p.Glu838Ter) c.2470G>T (p.Glu824Ter) c.2431G>T (p.Glu811Ter) c.2389G>T (p.Glu797Ter) c.2290G>T (p.Glu764Ter) c.1411G>T (p.Glu471Ter) c.931G>T (p.Glu311Ter) c.571G>T (p.Glu191Ter) c.2395G>T (p.Glu799Ter) c.2371G>T (p.Glu791Ter) c.2137G>T (p.Glu713Ter) c.1939G>T (p.Glu647Ter) c.1705G>T (p.Glu569Ter) c.778G>T (p.Glu260Ter) c.1369G>T (p.Glu457Ter) | ClinVar |
| 8 | g.67158472A= | CA1790813262 | CSPP1 | c.2333A= (p.Glu778=) c.139A= c.2357A= (p.Glu786=) c.1991A= (p.Glu664=) c.2072A= (p.Glu691=) c.2186A= (p.Glu729=) n.3596A= c.2225A= (p.Glu742=) c.2252A= (p.Glu751=) c.2000A= (p.Glu667=) n.5193A= c.*891A= (n.*891A=) c.1568A= (p.Glu523=) c.2375A= (p.Glu792=) c.2193A= (n.2193A=) n.3128A= c.570A= c.2246A= (p.Glu749=) c.*228A= (n.*228A=) c.2153A= (p.Glu718=) n.1765A= c.*1986A= (n.*1986A=) n.2140A= c.*283A= (n.*283A=) c.2234A= (p.Glu745=) c.1613A= (p.Glu538=) n.235A= c.*638A= (n.*638A=) c.1575A= (n.1575A=) c.1118A= (p.Glu373=) n.2430A= n.1907A= c.1802A= (p.Glu601=) c.*1044A= (n.*1044A=) c.2267A= (p.Glu756=) n.762A= c.2144A= (p.Glu715=) c.1694A= (p.Glu565=) n.1302A= n.3092A= c.*2166A= (n.*2166A=) n.1191A= n.1238A= c.*2518A= (n.*2518A=) c.1217A= (p.Glu406=) n.257A= c.2495A= (p.Glu832=) c.2342A= (p.Glu781=) c.1964A= (p.Glu655=) c.2537A= (p.Glu846=) c.2513A= (p.Glu838=) c.2471A= (p.Glu824=) c.2432A= (p.Glu811=) c.2390A= (p.Glu797=) c.2291A= (p.Glu764=) c.1412A= (p.Glu471=) c.932A= (p.Glu311=) c.572A= (p.Glu191=) c.2396A= (p.Glu799=) c.2372A= (p.Glu791=) c.2138A= (p.Glu713=) c.1940A= (p.Glu647=) c.1706A= (p.Glu569=) c.779A= (p.Glu260=) c.1370A= (p.Glu457=) | |
| 8 | g.67158472A>C | CA371188410 | CSPP1 | c.2333A>C (p.Glu778Ala) c.139A>C c.2357A>C (p.Glu786Ala) c.1991A>C (p.Glu664Ala) c.2072A>C (p.Glu691Ala) c.2186A>C (p.Glu729Ala) n.3596A>C c.2225A>C (p.Glu742Ala) c.2252A>C (p.Glu751Ala) c.2000A>C (p.Glu667Ala) n.5193A>C c.*891A>C (n.*891A>C) c.1568A>C (p.Glu523Ala) c.2375A>C (p.Glu792Ala) c.2193A>C (n.2193A>C) n.3128A>C c.570A>C c.2246A>C (p.Glu749Ala) c.*228A>C (n.*228A>C) c.2153A>C (p.Glu718Ala) n.1765A>C c.*1986A>C (n.*1986A>C) n.2140A>C c.*283A>C (n.*283A>C) c.2234A>C (p.Glu745Ala) c.1613A>C (p.Glu538Ala) n.235A>C c.*638A>C (n.*638A>C) c.1575A>C (n.1575A>C) c.1118A>C (p.Glu373Ala) n.2430A>C n.1907A>C c.1802A>C (p.Glu601Ala) c.*1044A>C (n.*1044A>C) c.2267A>C (p.Glu756Ala) n.762A>C c.2144A>C (p.Glu715Ala) c.1694A>C (p.Glu565Ala) n.1302A>C n.3092A>C c.*2166A>C (n.*2166A>C) n.1191A>C n.1238A>C c.*2518A>C (n.*2518A>C) c.1217A>C (p.Glu406Ala) n.257A>C c.2495A>C (p.Glu832Ala) c.2342A>C (p.Glu781Ala) c.1964A>C (p.Glu655Ala) c.2537A>C (p.Glu846Ala) c.2513A>C (p.Glu838Ala) c.2471A>C (p.Glu824Ala) c.2432A>C (p.Glu811Ala) c.2390A>C (p.Glu797Ala) c.2291A>C (p.Glu764Ala) c.1412A>C (p.Glu471Ala) c.932A>C (p.Glu311Ala) c.572A>C (p.Glu191Ala) c.2396A>C (p.Glu799Ala) c.2372A>C (p.Glu791Ala) c.2138A>C (p.Glu713Ala) c.1940A>C (p.Glu647Ala) c.1706A>C (p.Glu569Ala) c.779A>C (p.Glu260Ala) c.1370A>C (p.Glu457Ala) | |
| 8 | g.67158472A>G | CA4770796 | CSPP1 | c.2333A>G (p.Glu778Gly) c.139A>G c.2357A>G (p.Glu786Gly) c.1991A>G (p.Glu664Gly) c.2072A>G (p.Glu691Gly) c.2186A>G (p.Glu729Gly) n.3596A>G c.2225A>G (p.Glu742Gly) c.2252A>G (p.Glu751Gly) c.2000A>G (p.Glu667Gly) n.5193A>G c.*891A>G (n.*891A>G) c.1568A>G (p.Glu523Gly) c.2375A>G (p.Glu792Gly) c.2193A>G (n.2193A>G) n.3128A>G c.570A>G c.2246A>G (p.Glu749Gly) c.*228A>G (n.*228A>G) c.2153A>G (p.Glu718Gly) n.1765A>G c.*1986A>G (n.*1986A>G) n.2140A>G c.*283A>G (n.*283A>G) c.2234A>G (p.Glu745Gly) c.1613A>G (p.Glu538Gly) n.235A>G c.*638A>G (n.*638A>G) c.1575A>G (n.1575A>G) c.1118A>G (p.Glu373Gly) n.2430A>G n.1907A>G c.1802A>G (p.Glu601Gly) c.*1044A>G (n.*1044A>G) c.2267A>G (p.Glu756Gly) n.762A>G c.2144A>G (p.Glu715Gly) c.1694A>G (p.Glu565Gly) n.1302A>G n.3092A>G c.*2166A>G (n.*2166A>G) n.1191A>G n.1238A>G c.*2518A>G (n.*2518A>G) c.1217A>G (p.Glu406Gly) n.257A>G c.2495A>G (p.Glu832Gly) c.2342A>G (p.Glu781Gly) c.1964A>G (p.Glu655Gly) c.2537A>G (p.Glu846Gly) c.2513A>G (p.Glu838Gly) c.2471A>G (p.Glu824Gly) c.2432A>G (p.Glu811Gly) c.2390A>G (p.Glu797Gly) c.2291A>G (p.Glu764Gly) c.1412A>G (p.Glu471Gly) c.932A>G (p.Glu311Gly) c.572A>G (p.Glu191Gly) c.2396A>G (p.Glu799Gly) c.2372A>G (p.Glu791Gly) c.2138A>G (p.Glu713Gly) c.1940A>G (p.Glu647Gly) c.1706A>G (p.Glu569Gly) c.779A>G (p.Glu260Gly) c.1370A>G (p.Glu457Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.67158472A>T | CA371188412 | CSPP1 | c.2333A>T (p.Glu778Val) c.139A>T c.2357A>T (p.Glu786Val) c.1991A>T (p.Glu664Val) c.2072A>T (p.Glu691Val) c.2186A>T (p.Glu729Val) n.3596A>T c.2225A>T (p.Glu742Val) c.2252A>T (p.Glu751Val) c.2000A>T (p.Glu667Val) n.5193A>T c.*891A>T (n.*891A>T) c.1568A>T (p.Glu523Val) c.2375A>T (p.Glu792Val) c.2193A>T (n.2193A>T) n.3128A>T c.570A>T c.2246A>T (p.Glu749Val) c.*228A>T (n.*228A>T) c.2153A>T (p.Glu718Val) n.1765A>T c.*1986A>T (n.*1986A>T) n.2140A>T c.*283A>T (n.*283A>T) c.2234A>T (p.Glu745Val) c.1613A>T (p.Glu538Val) n.235A>T c.*638A>T (n.*638A>T) c.1575A>T (n.1575A>T) c.1118A>T (p.Glu373Val) n.2430A>T n.1907A>T c.1802A>T (p.Glu601Val) c.*1044A>T (n.*1044A>T) c.2267A>T (p.Glu756Val) n.762A>T c.2144A>T (p.Glu715Val) c.1694A>T (p.Glu565Val) n.1302A>T n.3092A>T c.*2166A>T (n.*2166A>T) n.1191A>T n.1238A>T c.*2518A>T (n.*2518A>T) c.1217A>T (p.Glu406Val) n.257A>T c.2495A>T (p.Glu832Val) c.2342A>T (p.Glu781Val) c.1964A>T (p.Glu655Val) c.2537A>T (p.Glu846Val) c.2513A>T (p.Glu838Val) c.2471A>T (p.Glu824Val) c.2432A>T (p.Glu811Val) c.2390A>T (p.Glu797Val) c.2291A>T (p.Glu764Val) c.1412A>T (p.Glu471Val) c.932A>T (p.Glu311Val) c.572A>T (p.Glu191Val) c.2396A>T (p.Glu799Val) c.2372A>T (p.Glu791Val) c.2138A>T (p.Glu713Val) c.1940A>T (p.Glu647Val) c.1706A>T (p.Glu569Val) c.779A>T (p.Glu260Val) c.1370A>T (p.Glu457Val) | |
| 8 | g.67158473A= | CA1790813263 | CSPP1 | c.2334A= (p.Glu778=) c.140A= c.2358A= (p.Glu786=) c.1992A= (p.Glu664=) c.2073A= (p.Glu691=) c.2187A= (p.Glu729=) n.3597A= c.2226A= (p.Glu742=) c.2253A= (p.Glu751=) c.2001A= (p.Glu667=) n.5194A= c.*892A= (n.*892A=) c.1569A= (p.Glu523=) c.2376A= (p.Glu792=) c.2194A= (n.2194A=) n.3129A= c.571A= c.2247A= (p.Glu749=) c.*229A= (n.*229A=) c.2154A= (p.Glu718=) n.1766A= c.*1987A= (n.*1987A=) n.2141A= c.*284A= (n.*284A=) c.2235A= (p.Glu745=) c.1614A= (p.Glu538=) n.236A= c.*639A= (n.*639A=) c.1576A= (n.1576A=) c.1119A= (p.Glu373=) n.2431A= n.1908A= c.1803A= (p.Glu601=) c.*1045A= (n.*1045A=) c.2268A= (p.Glu756=) n.763A= c.2145A= (p.Glu715=) c.1695A= (p.Glu565=) n.1303A= n.3093A= c.*2167A= (n.*2167A=) n.1192A= n.1239A= c.*2519A= (n.*2519A=) c.1218A= (p.Glu406=) n.258A= c.2496A= (p.Glu832=) c.2343A= (p.Glu781=) c.1965A= (p.Glu655=) c.2538A= (p.Glu846=) c.2514A= (p.Glu838=) c.2472A= (p.Glu824=) c.2433A= (p.Glu811=) c.2391A= (p.Glu797=) c.2292A= (p.Glu764=) c.1413A= (p.Glu471=) c.933A= (p.Glu311=) c.573A= (p.Glu191=) c.2397A= (p.Glu799=) c.2373A= (p.Glu791=) c.2139A= (p.Glu713=) c.1941A= (p.Glu647=) c.1707A= (p.Glu569=) c.780A= (p.Glu260=) c.1371A= (p.Glu457=) | |
| 8 | g.67158473A>C | CA371188414 | CSPP1 | c.2334A>C (p.Glu778Asp) c.140A>C c.2358A>C (p.Glu786Asp) c.1992A>C (p.Glu664Asp) c.2073A>C (p.Glu691Asp) c.2187A>C (p.Glu729Asp) n.3597A>C c.2226A>C (p.Glu742Asp) c.2253A>C (p.Glu751Asp) c.2001A>C (p.Glu667Asp) n.5194A>C c.*892A>C (n.*892A>C) c.1569A>C (p.Glu523Asp) c.2376A>C (p.Glu792Asp) c.2194A>C (n.2194A>C) n.3129A>C c.571A>C c.2247A>C (p.Glu749Asp) c.*229A>C (n.*229A>C) c.2154A>C (p.Glu718Asp) n.1766A>C c.*1987A>C (n.*1987A>C) n.2141A>C c.*284A>C (n.*284A>C) c.2235A>C (p.Glu745Asp) c.1614A>C (p.Glu538Asp) n.236A>C c.*639A>C (n.*639A>C) c.1576A>C (n.1576A>C) c.1119A>C (p.Glu373Asp) n.2431A>C n.1908A>C c.1803A>C (p.Glu601Asp) c.*1045A>C (n.*1045A>C) c.2268A>C (p.Glu756Asp) n.763A>C c.2145A>C (p.Glu715Asp) c.1695A>C (p.Glu565Asp) n.1303A>C n.3093A>C c.*2167A>C (n.*2167A>C) n.1192A>C n.1239A>C c.*2519A>C (n.*2519A>C) c.1218A>C (p.Glu406Asp) n.258A>C c.2496A>C (p.Glu832Asp) c.2343A>C (p.Glu781Asp) c.1965A>C (p.Glu655Asp) c.2538A>C (p.Glu846Asp) c.2514A>C (p.Glu838Asp) c.2472A>C (p.Glu824Asp) c.2433A>C (p.Glu811Asp) c.2391A>C (p.Glu797Asp) c.2292A>C (p.Glu764Asp) c.1413A>C (p.Glu471Asp) c.933A>C (p.Glu311Asp) c.573A>C (p.Glu191Asp) c.2397A>C (p.Glu799Asp) c.2373A>C (p.Glu791Asp) c.2139A>C (p.Glu713Asp) c.1941A>C (p.Glu647Asp) c.1707A>C (p.Glu569Asp) c.780A>C (p.Glu260Asp) c.1371A>C (p.Glu457Asp) | |
| 8 | g.67158473A>G | CA4770797 | CSPP1 | c.2334A>G (p.Glu778=) c.140A>G c.2358A>G (p.Glu786=) c.1992A>G (p.Glu664=) c.2073A>G (p.Glu691=) c.2187A>G (p.Glu729=) n.3597A>G c.2226A>G (p.Glu742=) c.2253A>G (p.Glu751=) c.2001A>G (p.Glu667=) n.5194A>G c.*892A>G (n.*892A>G) c.1569A>G (p.Glu523=) c.2376A>G (p.Glu792=) c.2194A>G (n.2194A>G) n.3129A>G c.571A>G c.2247A>G (p.Glu749=) c.*229A>G (n.*229A>G) c.2154A>G (p.Glu718=) n.1766A>G c.*1987A>G (n.*1987A>G) n.2141A>G c.*284A>G (n.*284A>G) c.2235A>G (p.Glu745=) c.1614A>G (p.Glu538=) n.236A>G c.*639A>G (n.*639A>G) c.1576A>G (n.1576A>G) c.1119A>G (p.Glu373=) n.2431A>G n.1908A>G c.1803A>G (p.Glu601=) c.*1045A>G (n.*1045A>G) c.2268A>G (p.Glu756=) n.763A>G c.2145A>G (p.Glu715=) c.1695A>G (p.Glu565=) n.1303A>G n.3093A>G c.*2167A>G (n.*2167A>G) n.1192A>G n.1239A>G c.*2519A>G (n.*2519A>G) c.1218A>G (p.Glu406=) n.258A>G c.2496A>G (p.Glu832=) c.2343A>G (p.Glu781=) c.1965A>G (p.Glu655=) c.2538A>G (p.Glu846=) c.2514A>G (p.Glu838=) c.2472A>G (p.Glu824=) c.2433A>G (p.Glu811=) c.2391A>G (p.Glu797=) c.2292A>G (p.Glu764=) c.1413A>G (p.Glu471=) c.933A>G (p.Glu311=) c.573A>G (p.Glu191=) c.2397A>G (p.Glu799=) c.2373A>G (p.Glu791=) c.2139A>G (p.Glu713=) c.1941A>G (p.Glu647=) c.1707A>G (p.Glu569=) c.780A>G (p.Glu260=) c.1371A>G (p.Glu457=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.67158473A>T | CA371188416 | CSPP1 | c.2334A>T (p.Glu778Asp) c.140A>T c.2358A>T (p.Glu786Asp) c.1992A>T (p.Glu664Asp) c.2073A>T (p.Glu691Asp) c.2187A>T (p.Glu729Asp) n.3597A>T c.2226A>T (p.Glu742Asp) c.2253A>T (p.Glu751Asp) c.2001A>T (p.Glu667Asp) n.5194A>T c.*892A>T (n.*892A>T) c.1569A>T (p.Glu523Asp) c.2376A>T (p.Glu792Asp) c.2194A>T (n.2194A>T) n.3129A>T c.571A>T c.2247A>T (p.Glu749Asp) c.*229A>T (n.*229A>T) c.2154A>T (p.Glu718Asp) n.1766A>T c.*1987A>T (n.*1987A>T) n.2141A>T c.*284A>T (n.*284A>T) c.2235A>T (p.Glu745Asp) c.1614A>T (p.Glu538Asp) n.236A>T c.*639A>T (n.*639A>T) c.1576A>T (n.1576A>T) c.1119A>T (p.Glu373Asp) n.2431A>T n.1908A>T c.1803A>T (p.Glu601Asp) c.*1045A>T (n.*1045A>T) c.2268A>T (p.Glu756Asp) n.763A>T c.2145A>T (p.Glu715Asp) c.1695A>T (p.Glu565Asp) n.1303A>T n.3093A>T c.*2167A>T (n.*2167A>T) n.1192A>T n.1239A>T c.*2519A>T (n.*2519A>T) c.1218A>T (p.Glu406Asp) n.258A>T c.2496A>T (p.Glu832Asp) c.2343A>T (p.Glu781Asp) c.1965A>T (p.Glu655Asp) c.2538A>T (p.Glu846Asp) c.2514A>T (p.Glu838Asp) c.2472A>T (p.Glu824Asp) c.2433A>T (p.Glu811Asp) c.2391A>T (p.Glu797Asp) c.2292A>T (p.Glu764Asp) c.1413A>T (p.Glu471Asp) c.933A>T (p.Glu311Asp) c.573A>T (p.Glu191Asp) c.2397A>T (p.Glu799Asp) c.2373A>T (p.Glu791Asp) c.2139A>T (p.Glu713Asp) c.1941A>T (p.Glu647Asp) c.1707A>T (p.Glu569Asp) c.780A>T (p.Glu260Asp) c.1371A>T (p.Glu457Asp) | |
| 8 | g.67158474G>A | CA371188417 | CSPP1 | c.2335G>A (p.Ala779Thr) c.141G>A c.2359G>A (p.Ala787Thr) c.1993G>A (p.Ala665Thr) c.2074G>A (p.Ala692Thr) c.2188G>A (p.Ala730Thr) n.3598G>A c.2227G>A (p.Ala743Thr) c.2254G>A (p.Ala752Thr) c.2002G>A (p.Ala668Thr) n.5195G>A c.*893G>A (n.*893G>A) c.1570G>A (p.Ala524Thr) c.2377G>A (p.Ala793Thr) c.2195G>A (n.2195G>A) n.3130G>A c.572G>A c.2248G>A (p.Ala750Thr) c.*230G>A (n.*230G>A) c.2155G>A (p.Ala719Thr) n.1767G>A c.*1988G>A (n.*1988G>A) n.2142G>A c.*285G>A (n.*285G>A) c.2236G>A (p.Ala746Thr) c.1615G>A (p.Ala539Thr) n.237G>A c.*640G>A (n.*640G>A) c.1577G>A (n.1577G>A) c.1120G>A (p.Ala374Thr) n.2432G>A n.1909G>A c.1804G>A (p.Ala602Thr) c.*1046G>A (n.*1046G>A) c.2269G>A (p.Ala757Thr) n.764G>A c.2146G>A (p.Ala716Thr) c.1696G>A (p.Ala566Thr) n.1304G>A n.3094G>A c.*2168G>A (n.*2168G>A) n.1193G>A n.1240G>A c.*2520G>A (n.*2520G>A) c.1219G>A (p.Ala407Thr) n.259G>A c.2497G>A (p.Ala833Thr) c.2344G>A (p.Ala782Thr) c.1966G>A (p.Ala656Thr) c.2539G>A (p.Ala847Thr) c.2515G>A (p.Ala839Thr) c.2473G>A (p.Ala825Thr) c.2434G>A (p.Ala812Thr) c.2392G>A (p.Ala798Thr) c.2293G>A (p.Ala765Thr) c.1414G>A (p.Ala472Thr) c.934G>A (p.Ala312Thr) c.574G>A (p.Ala192Thr) c.2398G>A (p.Ala800Thr) c.2374G>A (p.Ala792Thr) c.2140G>A (p.Ala714Thr) c.1942G>A (p.Ala648Thr) c.1708G>A (p.Ala570Thr) c.781G>A (p.Ala261Thr) c.1372G>A (p.Ala458Thr) | gnomAD v4 |
| 8 | g.67158474G>C | CA371188419 | CSPP1 | c.2335G>C (p.Ala779Pro) c.141G>C c.2359G>C (p.Ala787Pro) c.1993G>C (p.Ala665Pro) c.2074G>C (p.Ala692Pro) c.2188G>C (p.Ala730Pro) n.3598G>C c.2227G>C (p.Ala743Pro) c.2254G>C (p.Ala752Pro) c.2002G>C (p.Ala668Pro) n.5195G>C c.*893G>C (n.*893G>C) c.1570G>C (p.Ala524Pro) c.2377G>C (p.Ala793Pro) c.2195G>C (n.2195G>C) n.3130G>C c.572G>C c.2248G>C (p.Ala750Pro) c.*230G>C (n.*230G>C) c.2155G>C (p.Ala719Pro) n.1767G>C c.*1988G>C (n.*1988G>C) n.2142G>C c.*285G>C (n.*285G>C) c.2236G>C (p.Ala746Pro) c.1615G>C (p.Ala539Pro) n.237G>C c.*640G>C (n.*640G>C) c.1577G>C (n.1577G>C) c.1120G>C (p.Ala374Pro) n.2432G>C n.1909G>C c.1804G>C (p.Ala602Pro) c.*1046G>C (n.*1046G>C) c.2269G>C (p.Ala757Pro) n.764G>C c.2146G>C (p.Ala716Pro) c.1696G>C (p.Ala566Pro) n.1304G>C n.3094G>C c.*2168G>C (n.*2168G>C) n.1193G>C n.1240G>C c.*2520G>C (n.*2520G>C) c.1219G>C (p.Ala407Pro) n.259G>C c.2497G>C (p.Ala833Pro) c.2344G>C (p.Ala782Pro) c.1966G>C (p.Ala656Pro) c.2539G>C (p.Ala847Pro) c.2515G>C (p.Ala839Pro) c.2473G>C (p.Ala825Pro) c.2434G>C (p.Ala812Pro) c.2392G>C (p.Ala798Pro) c.2293G>C (p.Ala765Pro) c.1414G>C (p.Ala472Pro) c.934G>C (p.Ala312Pro) c.574G>C (p.Ala192Pro) c.2398G>C (p.Ala800Pro) c.2374G>C (p.Ala792Pro) c.2140G>C (p.Ala714Pro) c.1942G>C (p.Ala648Pro) c.1708G>C (p.Ala570Pro) c.781G>C (p.Ala261Pro) c.1372G>C (p.Ala458Pro) | |
| 8 | g.67158474G>T | CA371188420 | CSPP1 | c.2335G>T (p.Ala779Ser) c.141G>T c.2359G>T (p.Ala787Ser) c.1993G>T (p.Ala665Ser) c.2074G>T (p.Ala692Ser) c.2188G>T (p.Ala730Ser) n.3598G>T c.2227G>T (p.Ala743Ser) c.2254G>T (p.Ala752Ser) c.2002G>T (p.Ala668Ser) n.5195G>T c.*893G>T (n.*893G>T) c.1570G>T (p.Ala524Ser) c.2377G>T (p.Ala793Ser) c.2195G>T (n.2195G>T) n.3130G>T c.572G>T c.2248G>T (p.Ala750Ser) c.*230G>T (n.*230G>T) c.2155G>T (p.Ala719Ser) n.1767G>T c.*1988G>T (n.*1988G>T) n.2142G>T c.*285G>T (n.*285G>T) c.2236G>T (p.Ala746Ser) c.1615G>T (p.Ala539Ser) n.237G>T c.*640G>T (n.*640G>T) c.1577G>T (n.1577G>T) c.1120G>T (p.Ala374Ser) n.2432G>T n.1909G>T c.1804G>T (p.Ala602Ser) c.*1046G>T (n.*1046G>T) c.2269G>T (p.Ala757Ser) n.764G>T c.2146G>T (p.Ala716Ser) c.1696G>T (p.Ala566Ser) n.1304G>T n.3094G>T c.*2168G>T (n.*2168G>T) n.1193G>T n.1240G>T c.*2520G>T (n.*2520G>T) c.1219G>T (p.Ala407Ser) n.259G>T c.2497G>T (p.Ala833Ser) c.2344G>T (p.Ala782Ser) c.1966G>T (p.Ala656Ser) c.2539G>T (p.Ala847Ser) c.2515G>T (p.Ala839Ser) c.2473G>T (p.Ala825Ser) c.2434G>T (p.Ala812Ser) c.2392G>T (p.Ala798Ser) c.2293G>T (p.Ala765Ser) c.1414G>T (p.Ala472Ser) c.934G>T (p.Ala312Ser) c.574G>T (p.Ala192Ser) c.2398G>T (p.Ala800Ser) c.2374G>T (p.Ala792Ser) c.2140G>T (p.Ala714Ser) c.1942G>T (p.Ala648Ser) c.1708G>T (p.Ala570Ser) c.781G>T (p.Ala261Ser) c.1372G>T (p.Ala458Ser) | |
| 8 | g.67158475C>A | CA371188422 | CSPP1 | c.2336C>A (p.Ala779Glu) c.142C>A c.2360C>A (p.Ala787Glu) c.1994C>A (p.Ala665Glu) c.2075C>A (p.Ala692Glu) c.2189C>A (p.Ala730Glu) n.3599C>A c.2228C>A (p.Ala743Glu) c.2255C>A (p.Ala752Glu) c.2003C>A (p.Ala668Glu) n.5196C>A c.*894C>A (n.*894C>A) c.1571C>A (p.Ala524Glu) c.2378C>A (p.Ala793Glu) c.2196C>A (n.2196C>A) n.3131C>A c.573C>A c.2249C>A (p.Ala750Glu) c.*231C>A (n.*231C>A) c.2156C>A (p.Ala719Glu) n.1768C>A c.*1989C>A (n.*1989C>A) n.2143C>A c.*286C>A (n.*286C>A) c.2237C>A (p.Ala746Glu) c.1616C>A (p.Ala539Glu) n.238C>A c.*641C>A (n.*641C>A) c.1578C>A (n.1578C>A) c.1121C>A (p.Ala374Glu) n.2433C>A n.1910C>A c.1805C>A (p.Ala602Glu) c.*1047C>A (n.*1047C>A) c.2270C>A (p.Ala757Glu) n.765C>A c.2147C>A (p.Ala716Glu) c.1697C>A (p.Ala566Glu) n.1305C>A n.3095C>A c.*2169C>A (n.*2169C>A) n.1194C>A n.1241C>A c.*2521C>A (n.*2521C>A) c.1220C>A (p.Ala407Glu) n.260C>A c.2498C>A (p.Ala833Glu) c.2345C>A (p.Ala782Glu) c.1967C>A (p.Ala656Glu) c.2540C>A (p.Ala847Glu) c.2516C>A (p.Ala839Glu) c.2474C>A (p.Ala825Glu) c.2435C>A (p.Ala812Glu) c.2393C>A (p.Ala798Glu) c.2294C>A (p.Ala765Glu) c.1415C>A (p.Ala472Glu) c.935C>A (p.Ala312Glu) c.575C>A (p.Ala192Glu) c.2399C>A (p.Ala800Glu) c.2375C>A (p.Ala792Glu) c.2141C>A (p.Ala714Glu) c.1943C>A (p.Ala648Glu) c.1709C>A (p.Ala570Glu) c.782C>A (p.Ala261Glu) c.1373C>A (p.Ala458Glu) | gnomAD v4 |
| 8 | g.67158475C>G | CA371188424 | CSPP1 | c.2336C>G (p.Ala779Gly) c.142C>G c.2360C>G (p.Ala787Gly) c.1994C>G (p.Ala665Gly) c.2075C>G (p.Ala692Gly) c.2189C>G (p.Ala730Gly) n.3599C>G c.2228C>G (p.Ala743Gly) c.2255C>G (p.Ala752Gly) c.2003C>G (p.Ala668Gly) n.5196C>G c.*894C>G (n.*894C>G) c.1571C>G (p.Ala524Gly) c.2378C>G (p.Ala793Gly) c.2196C>G (n.2196C>G) n.3131C>G c.573C>G c.2249C>G (p.Ala750Gly) c.*231C>G (n.*231C>G) c.2156C>G (p.Ala719Gly) n.1768C>G c.*1989C>G (n.*1989C>G) n.2143C>G c.*286C>G (n.*286C>G) c.2237C>G (p.Ala746Gly) c.1616C>G (p.Ala539Gly) n.238C>G c.*641C>G (n.*641C>G) c.1578C>G (n.1578C>G) c.1121C>G (p.Ala374Gly) n.2433C>G n.1910C>G c.1805C>G (p.Ala602Gly) c.*1047C>G (n.*1047C>G) c.2270C>G (p.Ala757Gly) n.765C>G c.2147C>G (p.Ala716Gly) c.1697C>G (p.Ala566Gly) n.1305C>G n.3095C>G c.*2169C>G (n.*2169C>G) n.1194C>G n.1241C>G c.*2521C>G (n.*2521C>G) c.1220C>G (p.Ala407Gly) n.260C>G c.2498C>G (p.Ala833Gly) c.2345C>G (p.Ala782Gly) c.1967C>G (p.Ala656Gly) c.2540C>G (p.Ala847Gly) c.2516C>G (p.Ala839Gly) c.2474C>G (p.Ala825Gly) c.2435C>G (p.Ala812Gly) c.2393C>G (p.Ala798Gly) c.2294C>G (p.Ala765Gly) c.1415C>G (p.Ala472Gly) c.935C>G (p.Ala312Gly) c.575C>G (p.Ala192Gly) c.2399C>G (p.Ala800Gly) c.2375C>G (p.Ala792Gly) c.2141C>G (p.Ala714Gly) c.1943C>G (p.Ala648Gly) c.1709C>G (p.Ala570Gly) c.782C>G (p.Ala261Gly) c.1373C>G (p.Ala458Gly) | |
| 8 | g.67158475C>T | CA371188426 | CSPP1 | c.2336C>T (p.Ala779Val) c.142C>T c.2360C>T (p.Ala787Val) c.1994C>T (p.Ala665Val) c.2075C>T (p.Ala692Val) c.2189C>T (p.Ala730Val) n.3599C>T c.2228C>T (p.Ala743Val) c.2255C>T (p.Ala752Val) c.2003C>T (p.Ala668Val) n.5196C>T c.*894C>T (n.*894C>T) c.1571C>T (p.Ala524Val) c.2378C>T (p.Ala793Val) c.2196C>T (n.2196C>T) n.3131C>T c.573C>T c.2249C>T (p.Ala750Val) c.*231C>T (n.*231C>T) c.2156C>T (p.Ala719Val) n.1768C>T c.*1989C>T (n.*1989C>T) n.2143C>T c.*286C>T (n.*286C>T) c.2237C>T (p.Ala746Val) c.1616C>T (p.Ala539Val) n.238C>T c.*641C>T (n.*641C>T) c.1578C>T (n.1578C>T) c.1121C>T (p.Ala374Val) n.2433C>T n.1910C>T c.1805C>T (p.Ala602Val) c.*1047C>T (n.*1047C>T) c.2270C>T (p.Ala757Val) n.765C>T c.2147C>T (p.Ala716Val) c.1697C>T (p.Ala566Val) n.1305C>T n.3095C>T c.*2169C>T (n.*2169C>T) n.1194C>T n.1241C>T c.*2521C>T (n.*2521C>T) c.1220C>T (p.Ala407Val) n.260C>T c.2498C>T (p.Ala833Val) c.2345C>T (p.Ala782Val) c.1967C>T (p.Ala656Val) c.2540C>T (p.Ala847Val) c.2516C>T (p.Ala839Val) c.2474C>T (p.Ala825Val) c.2435C>T (p.Ala812Val) c.2393C>T (p.Ala798Val) c.2294C>T (p.Ala765Val) c.1415C>T (p.Ala472Val) c.935C>T (p.Ala312Val) c.575C>T (p.Ala192Val) c.2399C>T (p.Ala800Val) c.2375C>T (p.Ala792Val) c.2141C>T (p.Ala714Val) c.1943C>T (p.Ala648Val) c.1709C>T (p.Ala570Val) c.782C>T (p.Ala261Val) c.1373C>T (p.Ala458Val) |