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 |
|---|---|---|---|---|---|
| 14 | g.33800408_33800431delinsGGTGGCGGTGGCGGGGGGCTGCAC | CA2128327418 | NPAS3 | c.2101_2124delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly701=) c.2110_2133delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly704=) c.2001_2024delinsGGTGGCGGTGGCGGGGGGCTGCAC c.793+2827_793+2850delinsGGTGGCGGTGGCGGGGGGCTGCAC c.2005_2028delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly669=) c.2062_2085delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly688=) c.2011_2034delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly671=) c.2116_2139delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly706=) c.2023_2046delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly675=) c.2122_2145delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly708=) c.2152_2175delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly718=) c.2143_2166delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly715=) c.2113_2136delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly705=) c.2056_2079delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly686=) c.2002_2025delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly668=) c.1795_1818delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly599=) c.2209_2232delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly737=) c.2203_2226delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly735=) c.2200_2223delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly734=) c.2260_2283delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly754=) c.2251_2274delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly751=) c.2170_2193delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly724=) c.2119_2142delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly707=) | |
| 14 | g.33800414_33800436del | CA961818523 | NPAS3 | c.2107_2129del (p.Gly703HisfsTer?) c.2116_2138del (p.Gly706HisfsTer?) c.2007_2029del c.793+2833_793+2855del c.2011_2033del (p.Gly671HisfsTer?) c.2068_2090del (p.Gly690HisfsTer?) c.2017_2039del (p.Gly673HisfsTer?) c.2122_2144del (p.Gly708HisfsTer?) c.2029_2051del (p.Gly677HisfsTer?) c.2128_2150del (p.Gly710HisfsTer?) c.2158_2180del (p.Gly720HisfsTer?) c.2149_2171del (p.Gly717HisfsTer?) c.2119_2141del (p.Gly707HisfsTer?) c.2062_2084del (p.Gly688HisfsTer?) c.2008_2030del (p.Gly670HisfsTer?) c.1801_1823del (p.Gly601HisfsTer?) c.2215_2237del (p.Gly739HisfsTer?) c.2209_2231del (p.Gly737HisfsTer?) c.2206_2228del (p.Gly736HisfsTer?) c.2266_2288del (p.Gly756HisfsTer?) c.2257_2279del (p.Gly753HisfsTer?) c.2176_2198del (p.Gly726HisfsTer?) c.2125_2147del (p.Gly709HisfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800426C>A | CA389413981 | NPAS3 | c.2119C>A (p.Leu707Met) c.2128C>A (p.Leu710Met) c.2019C>A c.793+2845C>A c.2023C>A (p.Leu675Met) c.2080C>A (p.Leu694Met) c.2029C>A (p.Leu677Met) c.2134C>A (p.Leu712Met) c.2041C>A (p.Leu681Met) c.2140C>A (p.Leu714Met) c.2170C>A (p.Leu724Met) c.2161C>A (p.Leu721Met) c.2131C>A (p.Leu711Met) c.2074C>A (p.Leu692Met) c.2020C>A (p.Leu674Met) c.1813C>A (p.Leu605Met) c.2227C>A (p.Leu743Met) c.2221C>A (p.Leu741Met) c.2218C>A (p.Leu740Met) c.2278C>A (p.Leu760Met) c.2269C>A (p.Leu757Met) c.2188C>A (p.Leu730Met) c.2137C>A (p.Leu713Met) | gnomAD v4 |
| 14 | g.33800426C= | CA2128327469 | NPAS3 | c.2119C= (p.Leu707=) c.2128C= (p.Leu710=) c.2019C= c.793+2845C= c.2023C= (p.Leu675=) c.2080C= (p.Leu694=) c.2029C= (p.Leu677=) c.2134C= (p.Leu712=) c.2041C= (p.Leu681=) c.2140C= (p.Leu714=) c.2170C= (p.Leu724=) c.2161C= (p.Leu721=) c.2131C= (p.Leu711=) c.2074C= (p.Leu692=) c.2020C= (p.Leu674=) c.1813C= (p.Leu605=) c.2227C= (p.Leu743=) c.2221C= (p.Leu741=) c.2218C= (p.Leu740=) c.2278C= (p.Leu760=) c.2269C= (p.Leu757=) c.2188C= (p.Leu730=) c.2137C= (p.Leu713=) | |
| 14 | g.33800426C>G | CA389413982 | NPAS3 | c.2119C>G (p.Leu707Val) c.2128C>G (p.Leu710Val) c.2019C>G c.793+2845C>G c.2023C>G (p.Leu675Val) c.2080C>G (p.Leu694Val) c.2029C>G (p.Leu677Val) c.2134C>G (p.Leu712Val) c.2041C>G (p.Leu681Val) c.2140C>G (p.Leu714Val) c.2170C>G (p.Leu724Val) c.2161C>G (p.Leu721Val) c.2131C>G (p.Leu711Val) c.2074C>G (p.Leu692Val) c.2020C>G (p.Leu674Val) c.1813C>G (p.Leu605Val) c.2227C>G (p.Leu743Val) c.2221C>G (p.Leu741Val) c.2218C>G (p.Leu740Val) c.2278C>G (p.Leu760Val) c.2269C>G (p.Leu757Val) c.2188C>G (p.Leu730Val) c.2137C>G (p.Leu713Val) | |
| 14 | g.33800426C>T | CA7150950 | NPAS3 | c.2119C>T (p.Leu707=) c.2128C>T (p.Leu710=) c.2019C>T c.793+2845C>T c.2023C>T (p.Leu675=) c.2080C>T (p.Leu694=) c.2029C>T (p.Leu677=) c.2134C>T (p.Leu712=) c.2041C>T (p.Leu681=) c.2140C>T (p.Leu714=) c.2170C>T (p.Leu724=) c.2161C>T (p.Leu721=) c.2131C>T (p.Leu711=) c.2074C>T (p.Leu692=) c.2020C>T (p.Leu674=) c.1813C>T (p.Leu605=) c.2227C>T (p.Leu743=) c.2221C>T (p.Leu741=) c.2218C>T (p.Leu740=) c.2278C>T (p.Leu760=) c.2269C>T (p.Leu757=) c.2188C>T (p.Leu730=) c.2137C>T (p.Leu713=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800427T>A | CA389413989 | NPAS3 | c.2120T>A (p.Leu707Gln) c.2129T>A (p.Leu710Gln) c.2020T>A c.793+2846T>A c.2024T>A (p.Leu675Gln) c.2081T>A (p.Leu694Gln) c.2030T>A (p.Leu677Gln) c.2135T>A (p.Leu712Gln) c.2042T>A (p.Leu681Gln) c.2141T>A (p.Leu714Gln) c.2171T>A (p.Leu724Gln) c.2162T>A (p.Leu721Gln) c.2132T>A (p.Leu711Gln) c.2075T>A (p.Leu692Gln) c.2021T>A (p.Leu674Gln) c.1814T>A (p.Leu605Gln) c.2228T>A (p.Leu743Gln) c.2222T>A (p.Leu741Gln) c.2219T>A (p.Leu740Gln) c.2279T>A (p.Leu760Gln) c.2270T>A (p.Leu757Gln) c.2189T>A (p.Leu730Gln) c.2138T>A (p.Leu713Gln) | |
| 14 | g.33800427T>C | CA389413985 | NPAS3 | c.2120T>C (p.Leu707Pro) c.2129T>C (p.Leu710Pro) c.2020T>C c.793+2846T>C c.2024T>C (p.Leu675Pro) c.2081T>C (p.Leu694Pro) c.2030T>C (p.Leu677Pro) c.2135T>C (p.Leu712Pro) c.2042T>C (p.Leu681Pro) c.2141T>C (p.Leu714Pro) c.2171T>C (p.Leu724Pro) c.2162T>C (p.Leu721Pro) c.2132T>C (p.Leu711Pro) c.2075T>C (p.Leu692Pro) c.2021T>C (p.Leu674Pro) c.1814T>C (p.Leu605Pro) c.2228T>C (p.Leu743Pro) c.2222T>C (p.Leu741Pro) c.2219T>C (p.Leu740Pro) c.2279T>C (p.Leu760Pro) c.2270T>C (p.Leu757Pro) c.2189T>C (p.Leu730Pro) c.2138T>C (p.Leu713Pro) | |
| 14 | g.33800427T>G | CA389413987 | NPAS3 | c.2120T>G (p.Leu707Arg) c.2129T>G (p.Leu710Arg) c.2020T>G c.793+2846T>G c.2024T>G (p.Leu675Arg) c.2081T>G (p.Leu694Arg) c.2030T>G (p.Leu677Arg) c.2135T>G (p.Leu712Arg) c.2042T>G (p.Leu681Arg) c.2141T>G (p.Leu714Arg) c.2171T>G (p.Leu724Arg) c.2162T>G (p.Leu721Arg) c.2132T>G (p.Leu711Arg) c.2075T>G (p.Leu692Arg) c.2021T>G (p.Leu674Arg) c.1814T>G (p.Leu605Arg) c.2228T>G (p.Leu743Arg) c.2222T>G (p.Leu741Arg) c.2219T>G (p.Leu740Arg) c.2279T>G (p.Leu760Arg) c.2270T>G (p.Leu757Arg) c.2189T>G (p.Leu730Arg) c.2138T>G (p.Leu713Arg) | |
| 14 | g.33800428G>A | CA486093142 | NPAS3 | c.2121G>A (p.Leu707=) c.2130G>A (p.Leu710=) c.2021G>A c.793+2847G>A c.2025G>A (p.Leu675=) c.2082G>A (p.Leu694=) c.2031G>A (p.Leu677=) c.2136G>A (p.Leu712=) c.2043G>A (p.Leu681=) c.2142G>A (p.Leu714=) c.2172G>A (p.Leu724=) c.2163G>A (p.Leu721=) c.2133G>A (p.Leu711=) c.2076G>A (p.Leu692=) c.2022G>A (p.Leu674=) c.1815G>A (p.Leu605=) c.2229G>A (p.Leu743=) c.2223G>A (p.Leu741=) c.2220G>A (p.Leu740=) c.2280G>A (p.Leu760=) c.2271G>A (p.Leu757=) c.2190G>A (p.Leu730=) c.2139G>A (p.Leu713=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800428G>C | CA486093143 | NPAS3 | c.2121G>C (p.Leu707=) c.2130G>C (p.Leu710=) c.2021G>C c.793+2847G>C c.2025G>C (p.Leu675=) c.2082G>C (p.Leu694=) c.2031G>C (p.Leu677=) c.2136G>C (p.Leu712=) c.2043G>C (p.Leu681=) c.2142G>C (p.Leu714=) c.2172G>C (p.Leu724=) c.2163G>C (p.Leu721=) c.2133G>C (p.Leu711=) c.2076G>C (p.Leu692=) c.2022G>C (p.Leu674=) c.1815G>C (p.Leu605=) c.2229G>C (p.Leu743=) c.2223G>C (p.Leu741=) c.2220G>C (p.Leu740=) c.2280G>C (p.Leu760=) c.2271G>C (p.Leu757=) c.2190G>C (p.Leu730=) c.2139G>C (p.Leu713=) | gnomAD v4 |
| 14 | g.33800428G= | CA2128327471 | NPAS3 | c.2121G= (p.Leu707=) c.2130G= (p.Leu710=) c.2021G= c.793+2847G= c.2025G= (p.Leu675=) c.2082G= (p.Leu694=) c.2031G= (p.Leu677=) c.2136G= (p.Leu712=) c.2043G= (p.Leu681=) c.2142G= (p.Leu714=) c.2172G= (p.Leu724=) c.2163G= (p.Leu721=) c.2133G= (p.Leu711=) c.2076G= (p.Leu692=) c.2022G= (p.Leu674=) c.1815G= (p.Leu605=) c.2229G= (p.Leu743=) c.2223G= (p.Leu741=) c.2220G= (p.Leu740=) c.2280G= (p.Leu760=) c.2271G= (p.Leu757=) c.2190G= (p.Leu730=) c.2139G= (p.Leu713=) | |
| 14 | g.33800428G>T | CA486093144 | NPAS3 | c.2121G>T (p.Leu707=) c.2130G>T (p.Leu710=) c.2021G>T c.793+2847G>T c.2025G>T (p.Leu675=) c.2082G>T (p.Leu694=) c.2031G>T (p.Leu677=) c.2136G>T (p.Leu712=) c.2043G>T (p.Leu681=) c.2142G>T (p.Leu714=) c.2172G>T (p.Leu724=) c.2163G>T (p.Leu721=) c.2133G>T (p.Leu711=) c.2076G>T (p.Leu692=) c.2022G>T (p.Leu674=) c.1815G>T (p.Leu605=) c.2229G>T (p.Leu743=) c.2223G>T (p.Leu741=) c.2220G>T (p.Leu740=) c.2280G>T (p.Leu760=) c.2271G>T (p.Leu757=) c.2190G>T (p.Leu730=) c.2139G>T (p.Leu713=) | |
| 14 | g.33800429C>A | CA389413992 | NPAS3 | c.2122C>A (p.His708Asn) c.2131C>A (p.His711Asn) c.2022C>A c.793+2848C>A c.2026C>A (p.His676Asn) c.2083C>A (p.His695Asn) c.2032C>A (p.His678Asn) c.2137C>A (p.His713Asn) c.2044C>A (p.His682Asn) c.2143C>A (p.His715Asn) c.2173C>A (p.His725Asn) c.2164C>A (p.His722Asn) c.2134C>A (p.His712Asn) c.2077C>A (p.His693Asn) c.2023C>A (p.His675Asn) c.1816C>A (p.His606Asn) c.2230C>A (p.His744Asn) c.2224C>A (p.His742Asn) c.2221C>A (p.His741Asn) c.2281C>A (p.His761Asn) c.2272C>A (p.His758Asn) c.2191C>A (p.His731Asn) c.2140C>A (p.His714Asn) | gnomAD v4 |
| 14 | g.33800429C= | CA2128327474 | NPAS3 | c.2122C= (p.His708=) c.2131C= (p.His711=) c.2022C= c.793+2848C= c.2026C= (p.His676=) c.2083C= (p.His695=) c.2032C= (p.His678=) c.2137C= (p.His713=) c.2044C= (p.His682=) c.2143C= (p.His715=) c.2173C= (p.His725=) c.2164C= (p.His722=) c.2134C= (p.His712=) c.2077C= (p.His693=) c.2023C= (p.His675=) c.1816C= (p.His606=) c.2230C= (p.His744=) c.2224C= (p.His742=) c.2221C= (p.His741=) c.2281C= (p.His761=) c.2272C= (p.His758=) c.2191C= (p.His731=) c.2140C= (p.His714=) | |
| 14 | g.33800429C>G | CA389413993 | NPAS3 | c.2122C>G (p.His708Asp) c.2131C>G (p.His711Asp) c.2022C>G c.793+2848C>G c.2026C>G (p.His676Asp) c.2083C>G (p.His695Asp) c.2032C>G (p.His678Asp) c.2137C>G (p.His713Asp) c.2044C>G (p.His682Asp) c.2143C>G (p.His715Asp) c.2173C>G (p.His725Asp) c.2164C>G (p.His722Asp) c.2134C>G (p.His712Asp) c.2077C>G (p.His693Asp) c.2023C>G (p.His675Asp) c.1816C>G (p.His606Asp) c.2230C>G (p.His744Asp) c.2224C>G (p.His742Asp) c.2221C>G (p.His741Asp) c.2281C>G (p.His761Asp) c.2272C>G (p.His758Asp) c.2191C>G (p.His731Asp) c.2140C>G (p.His714Asp) | |
| 14 | g.33800429C>T | CA7150951 | NPAS3 | c.2122C>T (p.His708Tyr) c.2131C>T (p.His711Tyr) c.2022C>T c.793+2848C>T c.2026C>T (p.His676Tyr) c.2083C>T (p.His695Tyr) c.2032C>T (p.His678Tyr) c.2137C>T (p.His713Tyr) c.2044C>T (p.His682Tyr) c.2143C>T (p.His715Tyr) c.2173C>T (p.His725Tyr) c.2164C>T (p.His722Tyr) c.2134C>T (p.His712Tyr) c.2077C>T (p.His693Tyr) c.2023C>T (p.His675Tyr) c.1816C>T (p.His606Tyr) c.2230C>T (p.His744Tyr) c.2224C>T (p.His742Tyr) c.2221C>T (p.His741Tyr) c.2281C>T (p.His761Tyr) c.2272C>T (p.His758Tyr) c.2191C>T (p.His731Tyr) c.2140C>T (p.His714Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.33800430A= | CA2128327476 | NPAS3 | c.2123A= (p.His708=) c.2132A= (p.His711=) c.2023A= c.793+2849A= c.2027A= (p.His676=) c.2084A= (p.His695=) c.2033A= (p.His678=) c.2138A= (p.His713=) c.2045A= (p.His682=) c.2144A= (p.His715=) c.2174A= (p.His725=) c.2165A= (p.His722=) c.2135A= (p.His712=) c.2078A= (p.His693=) c.2024A= (p.His675=) c.1817A= (p.His606=) c.2231A= (p.His744=) c.2225A= (p.His742=) c.2222A= (p.His741=) c.2282A= (p.His761=) c.2273A= (p.His758=) c.2192A= (p.His731=) c.2141A= (p.His714=) | |
| 14 | g.33800430A>C | CA389413997 | NPAS3 | c.2123A>C (p.His708Pro) c.2132A>C (p.His711Pro) c.2023A>C c.793+2849A>C c.2027A>C (p.His676Pro) c.2084A>C (p.His695Pro) c.2033A>C (p.His678Pro) c.2138A>C (p.His713Pro) c.2045A>C (p.His682Pro) c.2144A>C (p.His715Pro) c.2174A>C (p.His725Pro) c.2165A>C (p.His722Pro) c.2135A>C (p.His712Pro) c.2078A>C (p.His693Pro) c.2024A>C (p.His675Pro) c.1817A>C (p.His606Pro) c.2231A>C (p.His744Pro) c.2225A>C (p.His742Pro) c.2222A>C (p.His741Pro) c.2282A>C (p.His761Pro) c.2273A>C (p.His758Pro) c.2192A>C (p.His731Pro) c.2141A>C (p.His714Pro) | dbSNP gnomAD v4 |
| 14 | g.33800430A>G | CA389413998 | NPAS3 | c.2123A>G (p.His708Arg) c.2132A>G (p.His711Arg) c.2023A>G c.793+2849A>G c.2027A>G (p.His676Arg) c.2084A>G (p.His695Arg) c.2033A>G (p.His678Arg) c.2138A>G (p.His713Arg) c.2045A>G (p.His682Arg) c.2144A>G (p.His715Arg) c.2174A>G (p.His725Arg) c.2165A>G (p.His722Arg) c.2135A>G (p.His712Arg) c.2078A>G (p.His693Arg) c.2024A>G (p.His675Arg) c.1817A>G (p.His606Arg) c.2231A>G (p.His744Arg) c.2225A>G (p.His742Arg) c.2222A>G (p.His741Arg) c.2282A>G (p.His761Arg) c.2273A>G (p.His758Arg) c.2192A>G (p.His731Arg) c.2141A>G (p.His714Arg) | |
| 14 | g.33800430A>T | CA389414000 | NPAS3 | c.2123A>T (p.His708Leu) c.2132A>T (p.His711Leu) c.2023A>T c.793+2849A>T c.2027A>T (p.His676Leu) c.2084A>T (p.His695Leu) c.2033A>T (p.His678Leu) c.2138A>T (p.His713Leu) c.2045A>T (p.His682Leu) c.2144A>T (p.His715Leu) c.2174A>T (p.His725Leu) c.2165A>T (p.His722Leu) c.2135A>T (p.His712Leu) c.2078A>T (p.His693Leu) c.2024A>T (p.His675Leu) c.1817A>T (p.His606Leu) c.2231A>T (p.His744Leu) c.2225A>T (p.His742Leu) c.2222A>T (p.His741Leu) c.2282A>T (p.His761Leu) c.2273A>T (p.His758Leu) c.2192A>T (p.His731Leu) c.2141A>T (p.His714Leu) | |
| 14 | g.33800431C>A | CA389414003 | NPAS3 | c.2124C>A (p.His708Gln) c.2133C>A (p.His711Gln) c.2024C>A c.793+2850C>A c.2028C>A (p.His676Gln) c.2085C>A (p.His695Gln) c.2034C>A (p.His678Gln) c.2139C>A (p.His713Gln) c.2046C>A (p.His682Gln) c.2145C>A (p.His715Gln) c.2175C>A (p.His725Gln) c.2166C>A (p.His722Gln) c.2136C>A (p.His712Gln) c.2079C>A (p.His693Gln) c.2025C>A (p.His675Gln) c.1818C>A (p.His606Gln) c.2232C>A (p.His744Gln) c.2226C>A (p.His742Gln) c.2223C>A (p.His741Gln) c.2283C>A (p.His761Gln) c.2274C>A (p.His758Gln) c.2193C>A (p.His731Gln) c.2142C>A (p.His714Gln) | |
| 14 | g.33800431C= | CA2128327478 | NPAS3 | c.2124C= (p.His708=) c.2133C= (p.His711=) c.2024C= c.793+2850C= c.2028C= (p.His676=) c.2085C= (p.His695=) c.2034C= (p.His678=) c.2139C= (p.His713=) c.2046C= (p.His682=) c.2145C= (p.His715=) c.2175C= (p.His725=) c.2166C= (p.His722=) c.2136C= (p.His712=) c.2079C= (p.His693=) c.2025C= (p.His675=) c.1818C= (p.His606=) c.2232C= (p.His744=) c.2226C= (p.His742=) c.2223C= (p.His741=) c.2283C= (p.His761=) c.2274C= (p.His758=) c.2193C= (p.His731=) c.2142C= (p.His714=) | |
| 14 | g.33800431C>G | CA389414004 | NPAS3 | c.2124C>G (p.His708Gln) c.2133C>G (p.His711Gln) c.2024C>G c.793+2850C>G c.2028C>G (p.His676Gln) c.2085C>G (p.His695Gln) c.2034C>G (p.His678Gln) c.2139C>G (p.His713Gln) c.2046C>G (p.His682Gln) c.2145C>G (p.His715Gln) c.2175C>G (p.His725Gln) c.2166C>G (p.His722Gln) c.2136C>G (p.His712Gln) c.2079C>G (p.His693Gln) c.2025C>G (p.His675Gln) c.1818C>G (p.His606Gln) c.2232C>G (p.His744Gln) c.2226C>G (p.His742Gln) c.2223C>G (p.His741Gln) c.2283C>G (p.His761Gln) c.2274C>G (p.His758Gln) c.2193C>G (p.His731Gln) c.2142C>G (p.His714Gln) | gnomAD v4 |
| 14 | g.33800431C>T | CA7150952 | NPAS3 | c.2124C>T (p.His708=) c.2133C>T (p.His711=) c.2024C>T c.793+2850C>T c.2028C>T (p.His676=) c.2085C>T (p.His695=) c.2034C>T (p.His678=) c.2139C>T (p.His713=) c.2046C>T (p.His682=) c.2145C>T (p.His715=) c.2175C>T (p.His725=) c.2166C>T (p.His722=) c.2136C>T (p.His712=) c.2079C>T (p.His693=) c.2025C>T (p.His675=) c.1818C>T (p.His606=) c.2232C>T (p.His744=) c.2226C>T (p.His742=) c.2223C>T (p.His741=) c.2283C>T (p.His761=) c.2274C>T (p.His758=) c.2193C>T (p.His731=) c.2142C>T (p.His714=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800432G>A | CA389414007 | NPAS3 | c.2125G>A (p.Val709Met) c.2134G>A (p.Val712Met) c.2025G>A c.793+2851G>A c.2029G>A (p.Val677Met) c.2086G>A (p.Val696Met) c.2035G>A (p.Val679Met) c.2140G>A (p.Val714Met) c.2047G>A (p.Val683Met) c.2146G>A (p.Val716Met) c.2176G>A (p.Val726Met) c.2167G>A (p.Val723Met) c.2137G>A (p.Val713Met) c.2080G>A (p.Val694Met) c.2026G>A (p.Val676Met) c.1819G>A (p.Val607Met) c.2233G>A (p.Val745Met) c.2227G>A (p.Val743Met) c.2224G>A (p.Val742Met) c.2284G>A (p.Val762Met) c.2275G>A (p.Val759Met) c.2194G>A (p.Val732Met) c.2143G>A (p.Val715Met) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800432G>C | CA389414009 | NPAS3 | c.2125G>C (p.Val709Leu) c.2134G>C (p.Val712Leu) c.2025G>C c.793+2851G>C c.2029G>C (p.Val677Leu) c.2086G>C (p.Val696Leu) c.2035G>C (p.Val679Leu) c.2140G>C (p.Val714Leu) c.2047G>C (p.Val683Leu) c.2146G>C (p.Val716Leu) c.2176G>C (p.Val726Leu) c.2167G>C (p.Val723Leu) c.2137G>C (p.Val713Leu) c.2080G>C (p.Val694Leu) c.2026G>C (p.Val676Leu) c.1819G>C (p.Val607Leu) c.2233G>C (p.Val745Leu) c.2227G>C (p.Val743Leu) c.2224G>C (p.Val742Leu) c.2284G>C (p.Val762Leu) c.2275G>C (p.Val759Leu) c.2194G>C (p.Val732Leu) c.2143G>C (p.Val715Leu) | |
| 14 | g.33800432G= | CA2128327483 | NPAS3 | c.2125G= (p.Val709=) c.2134G= (p.Val712=) c.2025G= c.793+2851G= c.2029G= (p.Val677=) c.2086G= (p.Val696=) c.2035G= (p.Val679=) c.2140G= (p.Val714=) c.2047G= (p.Val683=) c.2146G= (p.Val716=) c.2176G= (p.Val726=) c.2167G= (p.Val723=) c.2137G= (p.Val713=) c.2080G= (p.Val694=) c.2026G= (p.Val676=) c.1819G= (p.Val607=) c.2233G= (p.Val745=) c.2227G= (p.Val743=) c.2224G= (p.Val742=) c.2284G= (p.Val762=) c.2275G= (p.Val759=) c.2194G= (p.Val732=) c.2143G= (p.Val715=) | |
| 14 | g.33800432G>T | CA7150953 | NPAS3 | c.2125G>T (p.Val709Leu) c.2134G>T (p.Val712Leu) c.2025G>T c.793+2851G>T c.2029G>T (p.Val677Leu) c.2086G>T (p.Val696Leu) c.2035G>T (p.Val679Leu) c.2140G>T (p.Val714Leu) c.2047G>T (p.Val683Leu) c.2146G>T (p.Val716Leu) c.2176G>T (p.Val726Leu) c.2167G>T (p.Val723Leu) c.2137G>T (p.Val713Leu) c.2080G>T (p.Val694Leu) c.2026G>T (p.Val676Leu) c.1819G>T (p.Val607Leu) c.2233G>T (p.Val745Leu) c.2227G>T (p.Val743Leu) c.2224G>T (p.Val742Leu) c.2284G>T (p.Val762Leu) c.2275G>T (p.Val759Leu) c.2194G>T (p.Val732Leu) c.2143G>T (p.Val715Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.33800433T>A | CA389414014 | NPAS3 | c.2126T>A (p.Val709Glu) c.2135T>A (p.Val712Glu) c.2026T>A c.793+2852T>A c.2030T>A (p.Val677Glu) c.2087T>A (p.Val696Glu) c.2036T>A (p.Val679Glu) c.2141T>A (p.Val714Glu) c.2048T>A (p.Val683Glu) c.2147T>A (p.Val716Glu) c.2177T>A (p.Val726Glu) c.2168T>A (p.Val723Glu) c.2138T>A (p.Val713Glu) c.2081T>A (p.Val694Glu) c.2027T>A (p.Val676Glu) c.1820T>A (p.Val607Glu) c.2234T>A (p.Val745Glu) c.2228T>A (p.Val743Glu) c.2225T>A (p.Val742Glu) c.2285T>A (p.Val762Glu) c.2276T>A (p.Val759Glu) c.2195T>A (p.Val732Glu) c.2144T>A (p.Val715Glu) | |
| 14 | g.33800433T>C | CA389414016 | NPAS3 | c.2126T>C (p.Val709Ala) c.2135T>C (p.Val712Ala) c.2026T>C c.793+2852T>C c.2030T>C (p.Val677Ala) c.2087T>C (p.Val696Ala) c.2036T>C (p.Val679Ala) c.2141T>C (p.Val714Ala) c.2048T>C (p.Val683Ala) c.2147T>C (p.Val716Ala) c.2177T>C (p.Val726Ala) c.2168T>C (p.Val723Ala) c.2138T>C (p.Val713Ala) c.2081T>C (p.Val694Ala) c.2027T>C (p.Val676Ala) c.1820T>C (p.Val607Ala) c.2234T>C (p.Val745Ala) c.2228T>C (p.Val743Ala) c.2225T>C (p.Val742Ala) c.2285T>C (p.Val762Ala) c.2276T>C (p.Val759Ala) c.2195T>C (p.Val732Ala) c.2144T>C (p.Val715Ala) | |
| 14 | g.33800433T>G | CA389414012 | NPAS3 | c.2126T>G (p.Val709Gly) c.2135T>G (p.Val712Gly) c.2026T>G c.793+2852T>G c.2030T>G (p.Val677Gly) c.2087T>G (p.Val696Gly) c.2036T>G (p.Val679Gly) c.2141T>G (p.Val714Gly) c.2048T>G (p.Val683Gly) c.2147T>G (p.Val716Gly) c.2177T>G (p.Val726Gly) c.2168T>G (p.Val723Gly) c.2138T>G (p.Val713Gly) c.2081T>G (p.Val694Gly) c.2027T>G (p.Val676Gly) c.1820T>G (p.Val607Gly) c.2234T>G (p.Val745Gly) c.2228T>G (p.Val743Gly) c.2225T>G (p.Val742Gly) c.2285T>G (p.Val762Gly) c.2276T>G (p.Val759Gly) c.2195T>G (p.Val732Gly) c.2144T>G (p.Val715Gly) | |
| 14 | g.33800434G>A | CA486093153 | NPAS3 | c.2127G>A (p.Val709=) c.2136G>A (p.Val712=) c.2027G>A c.793+2853G>A c.2031G>A (p.Val677=) c.2088G>A (p.Val696=) c.2037G>A (p.Val679=) c.2142G>A (p.Val714=) c.2049G>A (p.Val683=) c.2148G>A (p.Val716=) c.2178G>A (p.Val726=) c.2169G>A (p.Val723=) c.2139G>A (p.Val713=) c.2082G>A (p.Val694=) c.2028G>A (p.Val676=) c.1821G>A (p.Val607=) c.2235G>A (p.Val745=) c.2229G>A (p.Val743=) c.2226G>A (p.Val742=) c.2286G>A (p.Val762=) c.2277G>A (p.Val759=) c.2196G>A (p.Val732=) c.2145G>A (p.Val715=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800434G>C | CA486093152 | NPAS3 | c.2127G>C (p.Val709=) c.2136G>C (p.Val712=) c.2027G>C c.793+2853G>C c.2031G>C (p.Val677=) c.2088G>C (p.Val696=) c.2037G>C (p.Val679=) c.2142G>C (p.Val714=) c.2049G>C (p.Val683=) c.2148G>C (p.Val716=) c.2178G>C (p.Val726=) c.2169G>C (p.Val723=) c.2139G>C (p.Val713=) c.2082G>C (p.Val694=) c.2028G>C (p.Val676=) c.1821G>C (p.Val607=) c.2235G>C (p.Val745=) c.2229G>C (p.Val743=) c.2226G>C (p.Val742=) c.2286G>C (p.Val762=) c.2277G>C (p.Val759=) c.2196G>C (p.Val732=) c.2145G>C (p.Val715=) | |
| 14 | g.33800434G= | CA2128327485 | NPAS3 | c.2127G= (p.Val709=) c.2136G= (p.Val712=) c.2027G= c.793+2853G= c.2031G= (p.Val677=) c.2088G= (p.Val696=) c.2037G= (p.Val679=) c.2142G= (p.Val714=) c.2049G= (p.Val683=) c.2148G= (p.Val716=) c.2178G= (p.Val726=) c.2169G= (p.Val723=) c.2139G= (p.Val713=) c.2082G= (p.Val694=) c.2028G= (p.Val676=) c.1821G= (p.Val607=) c.2235G= (p.Val745=) c.2229G= (p.Val743=) c.2226G= (p.Val742=) c.2286G= (p.Val762=) c.2277G= (p.Val759=) c.2196G= (p.Val732=) c.2145G= (p.Val715=) | |
| 14 | g.33800434G>T | CA486093151 | NPAS3 | c.2127G>T (p.Val709=) c.2136G>T (p.Val712=) c.2027G>T c.793+2853G>T c.2031G>T (p.Val677=) c.2088G>T (p.Val696=) c.2037G>T (p.Val679=) c.2142G>T (p.Val714=) c.2049G>T (p.Val683=) c.2148G>T (p.Val716=) c.2178G>T (p.Val726=) c.2169G>T (p.Val723=) c.2139G>T (p.Val713=) c.2082G>T (p.Val694=) c.2028G>T (p.Val676=) c.1821G>T (p.Val607=) c.2235G>T (p.Val745=) c.2229G>T (p.Val743=) c.2226G>T (p.Val742=) c.2286G>T (p.Val762=) c.2277G>T (p.Val759=) c.2196G>T (p.Val732=) c.2145G>T (p.Val715=) | |
| 14 | g.33800435G>A | CA389414018 | NPAS3 | c.2128G>A (p.Ala710Thr) c.2137G>A (p.Ala713Thr) c.2028G>A c.793+2854G>A c.2032G>A (p.Ala678Thr) c.2089G>A (p.Ala697Thr) c.2038G>A (p.Ala680Thr) c.2143G>A (p.Ala715Thr) c.2050G>A (p.Ala684Thr) c.2149G>A (p.Ala717Thr) c.2179G>A (p.Ala727Thr) c.2170G>A (p.Ala724Thr) c.2140G>A (p.Ala714Thr) c.2083G>A (p.Ala695Thr) c.2029G>A (p.Ala677Thr) c.1822G>A (p.Ala608Thr) c.2236G>A (p.Ala746Thr) c.2230G>A (p.Ala744Thr) c.2227G>A (p.Ala743Thr) c.2287G>A (p.Ala763Thr) c.2278G>A (p.Ala760Thr) c.2197G>A (p.Ala733Thr) c.2146G>A (p.Ala716Thr) | gnomAD v4 |
| 14 | g.33800435G>C | CA389414020 | NPAS3 | c.2128G>C (p.Ala710Pro) c.2137G>C (p.Ala713Pro) c.2028G>C c.793+2854G>C c.2032G>C (p.Ala678Pro) c.2089G>C (p.Ala697Pro) c.2038G>C (p.Ala680Pro) c.2143G>C (p.Ala715Pro) c.2050G>C (p.Ala684Pro) c.2149G>C (p.Ala717Pro) c.2179G>C (p.Ala727Pro) c.2170G>C (p.Ala724Pro) c.2140G>C (p.Ala714Pro) c.2083G>C (p.Ala695Pro) c.2029G>C (p.Ala677Pro) c.1822G>C (p.Ala608Pro) c.2236G>C (p.Ala746Pro) c.2230G>C (p.Ala744Pro) c.2227G>C (p.Ala743Pro) c.2287G>C (p.Ala763Pro) c.2278G>C (p.Ala760Pro) c.2197G>C (p.Ala733Pro) c.2146G>C (p.Ala716Pro) | |
| 14 | g.33800435G>T | CA389414022 | NPAS3 | c.2128G>T (p.Ala710Ser) c.2137G>T (p.Ala713Ser) c.2028G>T c.793+2854G>T c.2032G>T (p.Ala678Ser) c.2089G>T (p.Ala697Ser) c.2038G>T (p.Ala680Ser) c.2143G>T (p.Ala715Ser) c.2050G>T (p.Ala684Ser) c.2149G>T (p.Ala717Ser) c.2179G>T (p.Ala727Ser) c.2170G>T (p.Ala724Ser) c.2140G>T (p.Ala714Ser) c.2083G>T (p.Ala695Ser) c.2029G>T (p.Ala677Ser) c.1822G>T (p.Ala608Ser) c.2236G>T (p.Ala746Ser) c.2230G>T (p.Ala744Ser) c.2227G>T (p.Ala743Ser) c.2287G>T (p.Ala763Ser) c.2278G>T (p.Ala760Ser) c.2197G>T (p.Ala733Ser) c.2146G>T (p.Ala716Ser) | gnomAD v4 |
| 14 | g.33800436C>A | CA389414024 | NPAS3 | c.2129C>A (p.Ala710Asp) c.2138C>A (p.Ala713Asp) c.2029C>A c.793+2855C>A c.2033C>A (p.Ala678Asp) c.2090C>A (p.Ala697Asp) c.2039C>A (p.Ala680Asp) c.2144C>A (p.Ala715Asp) c.2051C>A (p.Ala684Asp) c.2150C>A (p.Ala717Asp) c.2180C>A (p.Ala727Asp) c.2171C>A (p.Ala724Asp) c.2141C>A (p.Ala714Asp) c.2084C>A (p.Ala695Asp) c.2030C>A (p.Ala677Asp) c.1823C>A (p.Ala608Asp) c.2237C>A (p.Ala746Asp) c.2231C>A (p.Ala744Asp) c.2228C>A (p.Ala743Asp) c.2288C>A (p.Ala763Asp) c.2279C>A (p.Ala760Asp) c.2198C>A (p.Ala733Asp) c.2147C>A (p.Ala716Asp) | gnomAD v4 |
| 14 | g.33800436C= | CA2128327489 | NPAS3 | c.2129C= (p.Ala710=) c.2138C= (p.Ala713=) c.2029C= c.793+2855C= c.2033C= (p.Ala678=) c.2090C= (p.Ala697=) c.2039C= (p.Ala680=) c.2144C= (p.Ala715=) c.2051C= (p.Ala684=) c.2150C= (p.Ala717=) c.2180C= (p.Ala727=) c.2171C= (p.Ala724=) c.2141C= (p.Ala714=) c.2084C= (p.Ala695=) c.2030C= (p.Ala677=) c.1823C= (p.Ala608=) c.2237C= (p.Ala746=) c.2231C= (p.Ala744=) c.2228C= (p.Ala743=) c.2288C= (p.Ala763=) c.2279C= (p.Ala760=) c.2198C= (p.Ala733=) c.2147C= (p.Ala716=) | |
| 14 | g.33800436C>G | CA389414026 | NPAS3 | c.2129C>G (p.Ala710Gly) c.2138C>G (p.Ala713Gly) c.2029C>G c.793+2855C>G c.2033C>G (p.Ala678Gly) c.2090C>G (p.Ala697Gly) c.2039C>G (p.Ala680Gly) c.2144C>G (p.Ala715Gly) c.2051C>G (p.Ala684Gly) c.2150C>G (p.Ala717Gly) c.2180C>G (p.Ala727Gly) c.2171C>G (p.Ala724Gly) c.2141C>G (p.Ala714Gly) c.2084C>G (p.Ala695Gly) c.2030C>G (p.Ala677Gly) c.1823C>G (p.Ala608Gly) c.2237C>G (p.Ala746Gly) c.2231C>G (p.Ala744Gly) c.2228C>G (p.Ala743Gly) c.2288C>G (p.Ala763Gly) c.2279C>G (p.Ala760Gly) c.2198C>G (p.Ala733Gly) c.2147C>G (p.Ala716Gly) | |
| 14 | g.33800436C>T | CA7150954 | NPAS3 | c.2129C>T (p.Ala710Val) c.2138C>T (p.Ala713Val) c.2029C>T c.793+2855C>T c.2033C>T (p.Ala678Val) c.2090C>T (p.Ala697Val) c.2039C>T (p.Ala680Val) c.2144C>T (p.Ala715Val) c.2051C>T (p.Ala684Val) c.2150C>T (p.Ala717Val) c.2180C>T (p.Ala727Val) c.2171C>T (p.Ala724Val) c.2141C>T (p.Ala714Val) c.2084C>T (p.Ala695Val) c.2030C>T (p.Ala677Val) c.1823C>T (p.Ala608Val) c.2237C>T (p.Ala746Val) c.2231C>T (p.Ala744Val) c.2228C>T (p.Ala743Val) c.2288C>T (p.Ala763Val) c.2279C>T (p.Ala760Val) c.2198C>T (p.Ala733Val) c.2147C>T (p.Ala716Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800437C>A | CA486093158 | NPAS3 | c.2130C>A (p.Ala710=) c.2139C>A (p.Ala713=) c.2030C>A c.793+2856C>A c.2034C>A (p.Ala678=) c.2091C>A (p.Ala697=) c.2040C>A (p.Ala680=) c.2145C>A (p.Ala715=) c.2052C>A (p.Ala684=) c.2151C>A (p.Ala717=) c.2181C>A (p.Ala727=) c.2172C>A (p.Ala724=) c.2142C>A (p.Ala714=) c.2085C>A (p.Ala695=) c.2031C>A (p.Ala677=) c.1824C>A (p.Ala608=) c.2238C>A (p.Ala746=) c.2232C>A (p.Ala744=) c.2229C>A (p.Ala743=) c.2289C>A (p.Ala763=) c.2280C>A (p.Ala760=) c.2199C>A (p.Ala733=) c.2148C>A (p.Ala716=) | |
| 14 | g.33800437C= | CA2128327493 | NPAS3 | c.2130C= (p.Ala710=) c.2139C= (p.Ala713=) c.2030C= c.793+2856C= c.2034C= (p.Ala678=) c.2091C= (p.Ala697=) c.2040C= (p.Ala680=) c.2145C= (p.Ala715=) c.2052C= (p.Ala684=) c.2151C= (p.Ala717=) c.2181C= (p.Ala727=) c.2172C= (p.Ala724=) c.2142C= (p.Ala714=) c.2085C= (p.Ala695=) c.2031C= (p.Ala677=) c.1824C= (p.Ala608=) c.2238C= (p.Ala746=) c.2232C= (p.Ala744=) c.2229C= (p.Ala743=) c.2289C= (p.Ala763=) c.2280C= (p.Ala760=) c.2199C= (p.Ala733=) c.2148C= (p.Ala716=) | |
| 14 | g.33800437C>G | CA486093160 | NPAS3 | c.2130C>G (p.Ala710=) c.2139C>G (p.Ala713=) c.2030C>G c.793+2856C>G c.2034C>G (p.Ala678=) c.2091C>G (p.Ala697=) c.2040C>G (p.Ala680=) c.2145C>G (p.Ala715=) c.2052C>G (p.Ala684=) c.2151C>G (p.Ala717=) c.2181C>G (p.Ala727=) c.2172C>G (p.Ala724=) c.2142C>G (p.Ala714=) c.2085C>G (p.Ala695=) c.2031C>G (p.Ala677=) c.1824C>G (p.Ala608=) c.2238C>G (p.Ala746=) c.2232C>G (p.Ala744=) c.2229C>G (p.Ala743=) c.2289C>G (p.Ala763=) c.2280C>G (p.Ala760=) c.2199C>G (p.Ala733=) c.2148C>G (p.Ala716=) | |
| 14 | g.33800437C>T | CA486093159 | NPAS3 | c.2130C>T (p.Ala710=) c.2139C>T (p.Ala713=) c.2030C>T c.793+2856C>T c.2034C>T (p.Ala678=) c.2091C>T (p.Ala697=) c.2040C>T (p.Ala680=) c.2145C>T (p.Ala715=) c.2052C>T (p.Ala684=) c.2151C>T (p.Ala717=) c.2181C>T (p.Ala727=) c.2172C>T (p.Ala724=) c.2142C>T (p.Ala714=) c.2085C>T (p.Ala695=) c.2031C>T (p.Ala677=) c.1824C>T (p.Ala608=) c.2238C>T (p.Ala746=) c.2232C>T (p.Ala744=) c.2229C>T (p.Ala743=) c.2289C>T (p.Ala763=) c.2280C>T (p.Ala760=) c.2199C>T (p.Ala733=) c.2148C>T (p.Ala716=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800438A= | CA2128327496 | NPAS3 | c.2131A= (p.Ile711=) c.2140A= (p.Ile714=) c.2031A= c.793+2857A= c.2035A= (p.Ile679=) c.2092A= (p.Ile698=) c.2041A= (p.Ile681=) c.2146A= (p.Ile716=) c.2053A= (p.Ile685=) c.2152A= (p.Ile718=) c.2182A= (p.Ile728=) c.2173A= (p.Ile725=) c.2143A= (p.Ile715=) c.2086A= (p.Ile696=) c.2032A= (p.Ile678=) c.1825A= (p.Ile609=) c.2239A= (p.Ile747=) c.2233A= (p.Ile745=) c.2230A= (p.Ile744=) c.2290A= (p.Ile764=) c.2281A= (p.Ile761=) c.2200A= (p.Ile734=) c.2149A= (p.Ile717=) | |
| 14 | g.33800438A>C | CA389414029 | NPAS3 | c.2131A>C (p.Ile711Leu) c.2140A>C (p.Ile714Leu) c.2031A>C c.793+2857A>C c.2035A>C (p.Ile679Leu) c.2092A>C (p.Ile698Leu) c.2041A>C (p.Ile681Leu) c.2146A>C (p.Ile716Leu) c.2053A>C (p.Ile685Leu) c.2152A>C (p.Ile718Leu) c.2182A>C (p.Ile728Leu) c.2173A>C (p.Ile725Leu) c.2143A>C (p.Ile715Leu) c.2086A>C (p.Ile696Leu) c.2032A>C (p.Ile678Leu) c.1825A>C (p.Ile609Leu) c.2239A>C (p.Ile747Leu) c.2233A>C (p.Ile745Leu) c.2230A>C (p.Ile744Leu) c.2290A>C (p.Ile764Leu) c.2281A>C (p.Ile761Leu) c.2200A>C (p.Ile734Leu) c.2149A>C (p.Ile717Leu) | |
| 14 | g.33800438A>G | CA389414031 | NPAS3 | c.2131A>G (p.Ile711Val) c.2140A>G (p.Ile714Val) c.2031A>G c.793+2857A>G c.2035A>G (p.Ile679Val) c.2092A>G (p.Ile698Val) c.2041A>G (p.Ile681Val) c.2146A>G (p.Ile716Val) c.2053A>G (p.Ile685Val) c.2152A>G (p.Ile718Val) c.2182A>G (p.Ile728Val) c.2173A>G (p.Ile725Val) c.2143A>G (p.Ile715Val) c.2086A>G (p.Ile696Val) c.2032A>G (p.Ile678Val) c.1825A>G (p.Ile609Val) c.2239A>G (p.Ile747Val) c.2233A>G (p.Ile745Val) c.2230A>G (p.Ile744Val) c.2290A>G (p.Ile764Val) c.2281A>G (p.Ile761Val) c.2200A>G (p.Ile734Val) c.2149A>G (p.Ile717Val) | dbSNP gnomAD v2 gnomAD v4 |