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.33800477G>A | CA389414127 | NPAS3 | c.2170G>A (p.Ala724Thr) c.2179G>A (p.Ala727Thr) c.2070G>A c.793+2896G>A c.2074G>A (p.Ala692Thr) c.2131G>A (p.Ala711Thr) c.2080G>A (p.Ala694Thr) c.2185G>A (p.Ala729Thr) c.2092G>A (p.Ala698Thr) c.2191G>A (p.Ala731Thr) c.2221G>A (p.Ala741Thr) c.2212G>A (p.Ala738Thr) c.2182G>A (p.Ala728Thr) c.2125G>A (p.Ala709Thr) c.2071G>A (p.Ala691Thr) c.1864G>A (p.Ala622Thr) c.2278G>A (p.Ala760Thr) c.2272G>A (p.Ala758Thr) c.2269G>A (p.Ala757Thr) c.2329G>A (p.Ala777Thr) c.2320G>A (p.Ala774Thr) c.2239G>A (p.Ala747Thr) c.2188G>A (p.Ala730Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.33800477G>C | CA389414125 | NPAS3 | c.2170G>C (p.Ala724Pro) c.2179G>C (p.Ala727Pro) c.2070G>C c.793+2896G>C c.2074G>C (p.Ala692Pro) c.2131G>C (p.Ala711Pro) c.2080G>C (p.Ala694Pro) c.2185G>C (p.Ala729Pro) c.2092G>C (p.Ala698Pro) c.2191G>C (p.Ala731Pro) c.2221G>C (p.Ala741Pro) c.2212G>C (p.Ala738Pro) c.2182G>C (p.Ala728Pro) c.2125G>C (p.Ala709Pro) c.2071G>C (p.Ala691Pro) c.1864G>C (p.Ala622Pro) c.2278G>C (p.Ala760Pro) c.2272G>C (p.Ala758Pro) c.2269G>C (p.Ala757Pro) c.2329G>C (p.Ala777Pro) c.2320G>C (p.Ala774Pro) c.2239G>C (p.Ala747Pro) c.2188G>C (p.Ala730Pro) | gnomAD v4 |
| 14 | g.33800477G= | CA2128327590 | NPAS3 | c.2170G= (p.Ala724=) c.2179G= (p.Ala727=) c.2070G= c.793+2896G= c.2074G= (p.Ala692=) c.2131G= (p.Ala711=) c.2080G= (p.Ala694=) c.2185G= (p.Ala729=) c.2092G= (p.Ala698=) c.2191G= (p.Ala731=) c.2221G= (p.Ala741=) c.2212G= (p.Ala738=) c.2182G= (p.Ala728=) c.2125G= (p.Ala709=) c.2071G= (p.Ala691=) c.1864G= (p.Ala622=) c.2278G= (p.Ala760=) c.2272G= (p.Ala758=) c.2269G= (p.Ala757=) c.2329G= (p.Ala777=) c.2320G= (p.Ala774=) c.2239G= (p.Ala747=) c.2188G= (p.Ala730=) | |
| 14 | g.33800477G>T | CA389414126 | NPAS3 | c.2170G>T (p.Ala724Ser) c.2179G>T (p.Ala727Ser) c.2070G>T c.793+2896G>T c.2074G>T (p.Ala692Ser) c.2131G>T (p.Ala711Ser) c.2080G>T (p.Ala694Ser) c.2185G>T (p.Ala729Ser) c.2092G>T (p.Ala698Ser) c.2191G>T (p.Ala731Ser) c.2221G>T (p.Ala741Ser) c.2212G>T (p.Ala738Ser) c.2182G>T (p.Ala728Ser) c.2125G>T (p.Ala709Ser) c.2071G>T (p.Ala691Ser) c.1864G>T (p.Ala622Ser) c.2278G>T (p.Ala760Ser) c.2272G>T (p.Ala758Ser) c.2269G>T (p.Ala757Ser) c.2329G>T (p.Ala777Ser) c.2320G>T (p.Ala774Ser) c.2239G>T (p.Ala747Ser) c.2188G>T (p.Ala730Ser) | |
| 14 | g.33800478C>A | CA389414128 | NPAS3 | c.2171C>A (p.Ala724Glu) c.2180C>A (p.Ala727Glu) c.2071C>A c.793+2897C>A c.2075C>A (p.Ala692Glu) c.2132C>A (p.Ala711Glu) c.2081C>A (p.Ala694Glu) c.2186C>A (p.Ala729Glu) c.2093C>A (p.Ala698Glu) c.2192C>A (p.Ala731Glu) c.2222C>A (p.Ala741Glu) c.2213C>A (p.Ala738Glu) c.2183C>A (p.Ala728Glu) c.2126C>A (p.Ala709Glu) c.2072C>A (p.Ala691Glu) c.1865C>A (p.Ala622Glu) c.2279C>A (p.Ala760Glu) c.2273C>A (p.Ala758Glu) c.2270C>A (p.Ala757Glu) c.2330C>A (p.Ala777Glu) c.2321C>A (p.Ala774Glu) c.2240C>A (p.Ala747Glu) c.2189C>A (p.Ala730Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800478C= | CA2128327594 | NPAS3 | c.2171C= (p.Ala724=) c.2180C= (p.Ala727=) c.2071C= c.793+2897C= c.2075C= (p.Ala692=) c.2132C= (p.Ala711=) c.2081C= (p.Ala694=) c.2186C= (p.Ala729=) c.2093C= (p.Ala698=) c.2192C= (p.Ala731=) c.2222C= (p.Ala741=) c.2213C= (p.Ala738=) c.2183C= (p.Ala728=) c.2126C= (p.Ala709=) c.2072C= (p.Ala691=) c.1865C= (p.Ala622=) c.2279C= (p.Ala760=) c.2273C= (p.Ala758=) c.2270C= (p.Ala757=) c.2330C= (p.Ala777=) c.2321C= (p.Ala774=) c.2240C= (p.Ala747=) c.2189C= (p.Ala730=) | |
| 14 | g.33800478C>G | CA389414129 | NPAS3 | c.2171C>G (p.Ala724Gly) c.2180C>G (p.Ala727Gly) c.2071C>G c.793+2897C>G c.2075C>G (p.Ala692Gly) c.2132C>G (p.Ala711Gly) c.2081C>G (p.Ala694Gly) c.2186C>G (p.Ala729Gly) c.2093C>G (p.Ala698Gly) c.2192C>G (p.Ala731Gly) c.2222C>G (p.Ala741Gly) c.2213C>G (p.Ala738Gly) c.2183C>G (p.Ala728Gly) c.2126C>G (p.Ala709Gly) c.2072C>G (p.Ala691Gly) c.1865C>G (p.Ala622Gly) c.2279C>G (p.Ala760Gly) c.2273C>G (p.Ala758Gly) c.2270C>G (p.Ala757Gly) c.2330C>G (p.Ala777Gly) c.2321C>G (p.Ala774Gly) c.2240C>G (p.Ala747Gly) c.2189C>G (p.Ala730Gly) | |
| 14 | g.33800478C>T | CA389414130 | NPAS3 | c.2171C>T (p.Ala724Val) c.2180C>T (p.Ala727Val) c.2071C>T c.793+2897C>T c.2075C>T (p.Ala692Val) c.2132C>T (p.Ala711Val) c.2081C>T (p.Ala694Val) c.2186C>T (p.Ala729Val) c.2093C>T (p.Ala698Val) c.2192C>T (p.Ala731Val) c.2222C>T (p.Ala741Val) c.2213C>T (p.Ala738Val) c.2183C>T (p.Ala728Val) c.2126C>T (p.Ala709Val) c.2072C>T (p.Ala691Val) c.1865C>T (p.Ala622Val) c.2279C>T (p.Ala760Val) c.2273C>T (p.Ala758Val) c.2270C>T (p.Ala757Val) c.2330C>T (p.Ala777Val) c.2321C>T (p.Ala774Val) c.2240C>T (p.Ala747Val) c.2189C>T (p.Ala730Val) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800478_33800479insCAC | CA2801126439 | NPAS3 | c.2171_2172insCAC (p.Ala724_Ala725insThr) c.2180_2181insCAC (p.Ala727_Ala728insThr) c.2071_2072insCAC c.793+2897_793+2898insCAC c.2075_2076insCAC (p.Ala692_Ala693insThr) c.2132_2133insCAC (p.Ala711_Ala712insThr) c.2081_2082insCAC (p.Ala694_Ala695insThr) c.2186_2187insCAC (p.Ala729_Ala730insThr) c.2093_2094insCAC (p.Ala698_Ala699insThr) c.2192_2193insCAC (p.Ala731_Ala732insThr) c.2222_2223insCAC (p.Ala741_Ala742insThr) c.2213_2214insCAC (p.Ala738_Ala739insThr) c.2183_2184insCAC (p.Ala728_Ala729insThr) c.2126_2127insCAC (p.Ala709_Ala710insThr) c.2072_2073insCAC (p.Ala691_Ala692insThr) c.1865_1866insCAC (p.Ala622_Ala623insThr) c.2279_2280insCAC (p.Ala760_Ala761insThr) c.2273_2274insCAC (p.Ala758_Ala759insThr) c.2270_2271insCAC (p.Ala757_Ala758insThr) c.2330_2331insCAC (p.Ala777_Ala778insThr) c.2321_2322insCAC (p.Ala774_Ala775insThr) c.2240_2241insCAC (p.Ala747_Ala748insThr) c.2189_2190insCAC (p.Ala730_Ala731insThr) | |
| 14 | g.33800479G>A | CA486093223 | NPAS3 | c.2172G>A (p.Ala724=) c.2181G>A (p.Ala727=) c.2072G>A c.793+2898G>A c.2076G>A (p.Ala692=) c.2133G>A (p.Ala711=) c.2082G>A (p.Ala694=) c.2187G>A (p.Ala729=) c.2094G>A (p.Ala698=) c.2193G>A (p.Ala731=) c.2223G>A (p.Ala741=) c.2214G>A (p.Ala738=) c.2184G>A (p.Ala728=) c.2127G>A (p.Ala709=) c.2073G>A (p.Ala691=) c.1866G>A (p.Ala622=) c.2280G>A (p.Ala760=) c.2274G>A (p.Ala758=) c.2271G>A (p.Ala757=) c.2331G>A (p.Ala777=) c.2322G>A (p.Ala774=) c.2241G>A (p.Ala747=) c.2190G>A (p.Ala730=) | dbSNP gnomAD v4 |
| 14 | g.33800479G>C | CA486093225 | NPAS3 | c.2172G>C (p.Ala724=) c.2181G>C (p.Ala727=) c.2072G>C c.793+2898G>C c.2076G>C (p.Ala692=) c.2133G>C (p.Ala711=) c.2082G>C (p.Ala694=) c.2187G>C (p.Ala729=) c.2094G>C (p.Ala698=) c.2193G>C (p.Ala731=) c.2223G>C (p.Ala741=) c.2214G>C (p.Ala738=) c.2184G>C (p.Ala728=) c.2127G>C (p.Ala709=) c.2073G>C (p.Ala691=) c.1866G>C (p.Ala622=) c.2280G>C (p.Ala760=) c.2274G>C (p.Ala758=) c.2271G>C (p.Ala757=) c.2331G>C (p.Ala777=) c.2322G>C (p.Ala774=) c.2241G>C (p.Ala747=) c.2190G>C (p.Ala730=) | |
| 14 | g.33800479G= | CA2128327597 | NPAS3 | c.2172G= (p.Ala724=) c.2181G= (p.Ala727=) c.2072G= c.793+2898G= c.2076G= (p.Ala692=) c.2133G= (p.Ala711=) c.2082G= (p.Ala694=) c.2187G= (p.Ala729=) c.2094G= (p.Ala698=) c.2193G= (p.Ala731=) c.2223G= (p.Ala741=) c.2214G= (p.Ala738=) c.2184G= (p.Ala728=) c.2127G= (p.Ala709=) c.2073G= (p.Ala691=) c.1866G= (p.Ala622=) c.2280G= (p.Ala760=) c.2274G= (p.Ala758=) c.2271G= (p.Ala757=) c.2331G= (p.Ala777=) c.2322G= (p.Ala774=) c.2241G= (p.Ala747=) c.2190G= (p.Ala730=) | |
| 14 | g.33800479G>T | CA486093224 | NPAS3 | c.2172G>T (p.Ala724=) c.2181G>T (p.Ala727=) c.2072G>T c.793+2898G>T c.2076G>T (p.Ala692=) c.2133G>T (p.Ala711=) c.2082G>T (p.Ala694=) c.2187G>T (p.Ala729=) c.2094G>T (p.Ala698=) c.2193G>T (p.Ala731=) c.2223G>T (p.Ala741=) c.2214G>T (p.Ala738=) c.2184G>T (p.Ala728=) c.2127G>T (p.Ala709=) c.2073G>T (p.Ala691=) c.1866G>T (p.Ala622=) c.2280G>T (p.Ala760=) c.2274G>T (p.Ala758=) c.2271G>T (p.Ala757=) c.2331G>T (p.Ala777=) c.2322G>T (p.Ala774=) c.2241G>T (p.Ala747=) c.2190G>T (p.Ala730=) | gnomAD v4 |
| 14 | g.33800480G>A | CA389414133 | NPAS3 | c.2173G>A (p.Ala725Thr) c.2182G>A (p.Ala728Thr) c.2073G>A c.793+2899G>A c.2077G>A (p.Ala693Thr) c.2134G>A (p.Ala712Thr) c.2083G>A (p.Ala695Thr) c.2188G>A (p.Ala730Thr) c.2095G>A (p.Ala699Thr) c.2194G>A (p.Ala732Thr) c.2224G>A (p.Ala742Thr) c.2215G>A (p.Ala739Thr) c.2185G>A (p.Ala729Thr) c.2128G>A (p.Ala710Thr) c.2074G>A (p.Ala692Thr) c.1867G>A (p.Ala623Thr) c.2281G>A (p.Ala761Thr) c.2275G>A (p.Ala759Thr) c.2272G>A (p.Ala758Thr) c.2332G>A (p.Ala778Thr) c.2323G>A (p.Ala775Thr) c.2242G>A (p.Ala748Thr) c.2191G>A (p.Ala731Thr) | dbSNP gnomAD v4 |
| 14 | g.33800480G>C | CA389414132 | NPAS3 | c.2173G>C (p.Ala725Pro) c.2182G>C (p.Ala728Pro) c.2073G>C c.793+2899G>C c.2077G>C (p.Ala693Pro) c.2134G>C (p.Ala712Pro) c.2083G>C (p.Ala695Pro) c.2188G>C (p.Ala730Pro) c.2095G>C (p.Ala699Pro) c.2194G>C (p.Ala732Pro) c.2224G>C (p.Ala742Pro) c.2215G>C (p.Ala739Pro) c.2185G>C (p.Ala729Pro) c.2128G>C (p.Ala710Pro) c.2074G>C (p.Ala692Pro) c.1867G>C (p.Ala623Pro) c.2281G>C (p.Ala761Pro) c.2275G>C (p.Ala759Pro) c.2272G>C (p.Ala758Pro) c.2332G>C (p.Ala778Pro) c.2323G>C (p.Ala775Pro) c.2242G>C (p.Ala748Pro) c.2191G>C (p.Ala731Pro) | dbSNP gnomAD v4 |
| 14 | g.33800480G= | CA2128327598 | NPAS3 | c.2173G= (p.Ala725=) c.2182G= (p.Ala728=) c.2073G= c.793+2899G= c.2077G= (p.Ala693=) c.2134G= (p.Ala712=) c.2083G= (p.Ala695=) c.2188G= (p.Ala730=) c.2095G= (p.Ala699=) c.2194G= (p.Ala732=) c.2224G= (p.Ala742=) c.2215G= (p.Ala739=) c.2185G= (p.Ala729=) c.2128G= (p.Ala710=) c.2074G= (p.Ala692=) c.1867G= (p.Ala623=) c.2281G= (p.Ala761=) c.2275G= (p.Ala759=) c.2272G= (p.Ala758=) c.2332G= (p.Ala778=) c.2323G= (p.Ala775=) c.2242G= (p.Ala748=) c.2191G= (p.Ala731=) | |
| 14 | g.33800480G>T | CA389414131 | NPAS3 | c.2173G>T (p.Ala725Ser) c.2182G>T (p.Ala728Ser) c.2073G>T c.793+2899G>T c.2077G>T (p.Ala693Ser) c.2134G>T (p.Ala712Ser) c.2083G>T (p.Ala695Ser) c.2188G>T (p.Ala730Ser) c.2095G>T (p.Ala699Ser) c.2194G>T (p.Ala732Ser) c.2224G>T (p.Ala742Ser) c.2215G>T (p.Ala739Ser) c.2185G>T (p.Ala729Ser) c.2128G>T (p.Ala710Ser) c.2074G>T (p.Ala692Ser) c.1867G>T (p.Ala623Ser) c.2281G>T (p.Ala761Ser) c.2275G>T (p.Ala759Ser) c.2272G>T (p.Ala758Ser) c.2332G>T (p.Ala778Ser) c.2323G>T (p.Ala775Ser) c.2242G>T (p.Ala748Ser) c.2191G>T (p.Ala731Ser) | gnomAD v4 |
| 14 | g.33800481C>A | CA389414134 | NPAS3 | c.2174C>A (p.Ala725Asp) c.2183C>A (p.Ala728Asp) c.2074C>A c.793+2900C>A c.2078C>A (p.Ala693Asp) c.2135C>A (p.Ala712Asp) c.2084C>A (p.Ala695Asp) c.2189C>A (p.Ala730Asp) c.2096C>A (p.Ala699Asp) c.2195C>A (p.Ala732Asp) c.2225C>A (p.Ala742Asp) c.2216C>A (p.Ala739Asp) c.2186C>A (p.Ala729Asp) c.2129C>A (p.Ala710Asp) c.2075C>A (p.Ala692Asp) c.1868C>A (p.Ala623Asp) c.2282C>A (p.Ala761Asp) c.2276C>A (p.Ala759Asp) c.2273C>A (p.Ala758Asp) c.2333C>A (p.Ala778Asp) c.2324C>A (p.Ala775Asp) c.2243C>A (p.Ala748Asp) c.2192C>A (p.Ala731Asp) | dbSNP gnomAD v4 |
| 14 | g.33800481C= | CA2128327600 | NPAS3 | c.2174C= (p.Ala725=) c.2183C= (p.Ala728=) c.2074C= c.793+2900C= c.2078C= (p.Ala693=) c.2135C= (p.Ala712=) c.2084C= (p.Ala695=) c.2189C= (p.Ala730=) c.2096C= (p.Ala699=) c.2195C= (p.Ala732=) c.2225C= (p.Ala742=) c.2216C= (p.Ala739=) c.2186C= (p.Ala729=) c.2129C= (p.Ala710=) c.2075C= (p.Ala692=) c.1868C= (p.Ala623=) c.2282C= (p.Ala761=) c.2276C= (p.Ala759=) c.2273C= (p.Ala758=) c.2333C= (p.Ala778=) c.2324C= (p.Ala775=) c.2243C= (p.Ala748=) c.2192C= (p.Ala731=) | |
| 14 | g.33800481C>G | CA389414135 | NPAS3 | c.2174C>G (p.Ala725Gly) c.2183C>G (p.Ala728Gly) c.2074C>G c.793+2900C>G c.2078C>G (p.Ala693Gly) c.2135C>G (p.Ala712Gly) c.2084C>G (p.Ala695Gly) c.2189C>G (p.Ala730Gly) c.2096C>G (p.Ala699Gly) c.2195C>G (p.Ala732Gly) c.2225C>G (p.Ala742Gly) c.2216C>G (p.Ala739Gly) c.2186C>G (p.Ala729Gly) c.2129C>G (p.Ala710Gly) c.2075C>G (p.Ala692Gly) c.1868C>G (p.Ala623Gly) c.2282C>G (p.Ala761Gly) c.2276C>G (p.Ala759Gly) c.2273C>G (p.Ala758Gly) c.2333C>G (p.Ala778Gly) c.2324C>G (p.Ala775Gly) c.2243C>G (p.Ala748Gly) c.2192C>G (p.Ala731Gly) | |
| 14 | g.33800481C>T | CA389414136 | NPAS3 | c.2174C>T (p.Ala725Val) c.2183C>T (p.Ala728Val) c.2074C>T c.793+2900C>T c.2078C>T (p.Ala693Val) c.2135C>T (p.Ala712Val) c.2084C>T (p.Ala695Val) c.2189C>T (p.Ala730Val) c.2096C>T (p.Ala699Val) c.2195C>T (p.Ala732Val) c.2225C>T (p.Ala742Val) c.2216C>T (p.Ala739Val) c.2186C>T (p.Ala729Val) c.2129C>T (p.Ala710Val) c.2075C>T (p.Ala692Val) c.1868C>T (p.Ala623Val) c.2282C>T (p.Ala761Val) c.2276C>T (p.Ala759Val) c.2273C>T (p.Ala758Val) c.2333C>T (p.Ala778Val) c.2324C>T (p.Ala775Val) c.2243C>T (p.Ala748Val) c.2192C>T (p.Ala731Val) | gnomAD v4 |
| 14 | g.33800482C>A | CA486093227 | NPAS3 | c.2175C>A (p.Ala725=) c.2184C>A (p.Ala728=) c.2075C>A c.793+2901C>A c.2079C>A (p.Ala693=) c.2136C>A (p.Ala712=) c.2085C>A (p.Ala695=) c.2190C>A (p.Ala730=) c.2097C>A (p.Ala699=) c.2196C>A (p.Ala732=) c.2226C>A (p.Ala742=) c.2217C>A (p.Ala739=) c.2187C>A (p.Ala729=) c.2130C>A (p.Ala710=) c.2076C>A (p.Ala692=) c.1869C>A (p.Ala623=) c.2283C>A (p.Ala761=) c.2277C>A (p.Ala759=) c.2274C>A (p.Ala758=) c.2334C>A (p.Ala778=) c.2325C>A (p.Ala775=) c.2244C>A (p.Ala748=) c.2193C>A (p.Ala731=) | gnomAD v4 |
| 14 | g.33800482C= | CA2128327605 | NPAS3 | c.2175C= (p.Ala725=) c.2184C= (p.Ala728=) c.2075C= c.793+2901C= c.2079C= (p.Ala693=) c.2136C= (p.Ala712=) c.2085C= (p.Ala695=) c.2190C= (p.Ala730=) c.2097C= (p.Ala699=) c.2196C= (p.Ala732=) c.2226C= (p.Ala742=) c.2217C= (p.Ala739=) c.2187C= (p.Ala729=) c.2130C= (p.Ala710=) c.2076C= (p.Ala692=) c.1869C= (p.Ala623=) c.2283C= (p.Ala761=) c.2277C= (p.Ala759=) c.2274C= (p.Ala758=) c.2334C= (p.Ala778=) c.2325C= (p.Ala775=) c.2244C= (p.Ala748=) c.2193C= (p.Ala731=) | |
| 14 | g.33800482C>G | CA486093229 | NPAS3 | c.2175C>G (p.Ala725=) c.2184C>G (p.Ala728=) c.2075C>G c.793+2901C>G c.2079C>G (p.Ala693=) c.2136C>G (p.Ala712=) c.2085C>G (p.Ala695=) c.2190C>G (p.Ala730=) c.2097C>G (p.Ala699=) c.2196C>G (p.Ala732=) c.2226C>G (p.Ala742=) c.2217C>G (p.Ala739=) c.2187C>G (p.Ala729=) c.2130C>G (p.Ala710=) c.2076C>G (p.Ala692=) c.1869C>G (p.Ala623=) c.2283C>G (p.Ala761=) c.2277C>G (p.Ala759=) c.2274C>G (p.Ala758=) c.2334C>G (p.Ala778=) c.2325C>G (p.Ala775=) c.2244C>G (p.Ala748=) c.2193C>G (p.Ala731=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800482C>T | CA486093230 | NPAS3 | c.2175C>T (p.Ala725=) c.2184C>T (p.Ala728=) c.2075C>T c.793+2901C>T c.2079C>T (p.Ala693=) c.2136C>T (p.Ala712=) c.2085C>T (p.Ala695=) c.2190C>T (p.Ala730=) c.2097C>T (p.Ala699=) c.2196C>T (p.Ala732=) c.2226C>T (p.Ala742=) c.2217C>T (p.Ala739=) c.2187C>T (p.Ala729=) c.2130C>T (p.Ala710=) c.2076C>T (p.Ala692=) c.1869C>T (p.Ala623=) c.2283C>T (p.Ala761=) c.2277C>T (p.Ala759=) c.2274C>T (p.Ala758=) c.2334C>T (p.Ala778=) c.2325C>T (p.Ala775=) c.2244C>T (p.Ala748=) c.2193C>T (p.Ala731=) | gnomAD v4 |
| 14 | g.33800483_33800484del | CA2624512037 | NPAS3 | c.2176_2177del (p.Ala726ProfsTer?) c.2185_2186del (p.Ala729ProfsTer?) c.2076_2077del c.793+2902_793+2903del c.2080_2081del (p.Ala694ProfsTer?) c.2137_2138del (p.Ala713ProfsTer?) c.2086_2087del (p.Ala696ProfsTer?) c.2191_2192del (p.Ala731ProfsTer?) c.2098_2099del (p.Ala700ProfsTer?) c.2197_2198del (p.Ala733ProfsTer?) c.2227_2228del (p.Ala743ProfsTer?) c.2218_2219del (p.Ala740ProfsTer?) c.2188_2189del (p.Ala730ProfsTer?) c.2131_2132del (p.Ala711ProfsTer?) c.2077_2078del (p.Ala693ProfsTer?) c.1870_1871del (p.Ala624ProfsTer?) c.2284_2285del (p.Ala762ProfsTer?) c.2278_2279del (p.Ala760ProfsTer?) c.2275_2276del (p.Ala759ProfsTer?) c.2335_2336del (p.Ala779ProfsTer?) c.2326_2327del (p.Ala776ProfsTer?) c.2245_2246del (p.Ala749ProfsTer?) c.2194_2195del (p.Ala732ProfsTer?) | gnomAD v4 |
| 14 | g.33800483G>A | CA389414137 | NPAS3 | c.2176G>A (p.Ala726Thr) c.2185G>A (p.Ala729Thr) c.2076G>A c.793+2902G>A c.2080G>A (p.Ala694Thr) c.2137G>A (p.Ala713Thr) c.2086G>A (p.Ala696Thr) c.2191G>A (p.Ala731Thr) c.2098G>A (p.Ala700Thr) c.2197G>A (p.Ala733Thr) c.2227G>A (p.Ala743Thr) c.2218G>A (p.Ala740Thr) c.2188G>A (p.Ala730Thr) c.2131G>A (p.Ala711Thr) c.2077G>A (p.Ala693Thr) c.1870G>A (p.Ala624Thr) c.2284G>A (p.Ala762Thr) c.2278G>A (p.Ala760Thr) c.2275G>A (p.Ala759Thr) c.2335G>A (p.Ala779Thr) c.2326G>A (p.Ala776Thr) c.2245G>A (p.Ala749Thr) c.2194G>A (p.Ala732Thr) | dbSNP gnomAD v4 |
| 14 | g.33800483G>C | CA389414138 | NPAS3 | c.2176G>C (p.Ala726Pro) c.2185G>C (p.Ala729Pro) c.2076G>C c.793+2902G>C c.2080G>C (p.Ala694Pro) c.2137G>C (p.Ala713Pro) c.2086G>C (p.Ala696Pro) c.2191G>C (p.Ala731Pro) c.2098G>C (p.Ala700Pro) c.2197G>C (p.Ala733Pro) c.2227G>C (p.Ala743Pro) c.2218G>C (p.Ala740Pro) c.2188G>C (p.Ala730Pro) c.2131G>C (p.Ala711Pro) c.2077G>C (p.Ala693Pro) c.1870G>C (p.Ala624Pro) c.2284G>C (p.Ala762Pro) c.2278G>C (p.Ala760Pro) c.2275G>C (p.Ala759Pro) c.2335G>C (p.Ala779Pro) c.2326G>C (p.Ala776Pro) c.2245G>C (p.Ala749Pro) c.2194G>C (p.Ala732Pro) | |
| 14 | g.33800483G= | CA2128327607 | NPAS3 | c.2176G= (p.Ala726=) c.2185G= (p.Ala729=) c.2076G= c.793+2902G= c.2080G= (p.Ala694=) c.2137G= (p.Ala713=) c.2086G= (p.Ala696=) c.2191G= (p.Ala731=) c.2098G= (p.Ala700=) c.2197G= (p.Ala733=) c.2227G= (p.Ala743=) c.2218G= (p.Ala740=) c.2188G= (p.Ala730=) c.2131G= (p.Ala711=) c.2077G= (p.Ala693=) c.1870G= (p.Ala624=) c.2284G= (p.Ala762=) c.2278G= (p.Ala760=) c.2275G= (p.Ala759=) c.2335G= (p.Ala779=) c.2326G= (p.Ala776=) c.2245G= (p.Ala749=) c.2194G= (p.Ala732=) | |
| 14 | g.33800483G>T | CA389414139 | NPAS3 | c.2176G>T (p.Ala726Ser) c.2185G>T (p.Ala729Ser) c.2076G>T c.793+2902G>T c.2080G>T (p.Ala694Ser) c.2137G>T (p.Ala713Ser) c.2086G>T (p.Ala696Ser) c.2191G>T (p.Ala731Ser) c.2098G>T (p.Ala700Ser) c.2197G>T (p.Ala733Ser) c.2227G>T (p.Ala743Ser) c.2218G>T (p.Ala740Ser) c.2188G>T (p.Ala730Ser) c.2131G>T (p.Ala711Ser) c.2077G>T (p.Ala693Ser) c.1870G>T (p.Ala624Ser) c.2284G>T (p.Ala762Ser) c.2278G>T (p.Ala760Ser) c.2275G>T (p.Ala759Ser) c.2335G>T (p.Ala779Ser) c.2326G>T (p.Ala776Ser) c.2245G>T (p.Ala749Ser) c.2194G>T (p.Ala732Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800484C>A | CA389414140 | NPAS3 | c.2177C>A (p.Ala726Asp) c.2186C>A (p.Ala729Asp) c.2077C>A c.793+2903C>A c.2081C>A (p.Ala694Asp) c.2138C>A (p.Ala713Asp) c.2087C>A (p.Ala696Asp) c.2192C>A (p.Ala731Asp) c.2099C>A (p.Ala700Asp) c.2198C>A (p.Ala733Asp) c.2228C>A (p.Ala743Asp) c.2219C>A (p.Ala740Asp) c.2189C>A (p.Ala730Asp) c.2132C>A (p.Ala711Asp) c.2078C>A (p.Ala693Asp) c.1871C>A (p.Ala624Asp) c.2285C>A (p.Ala762Asp) c.2279C>A (p.Ala760Asp) c.2276C>A (p.Ala759Asp) c.2336C>A (p.Ala779Asp) c.2327C>A (p.Ala776Asp) c.2246C>A (p.Ala749Asp) c.2195C>A (p.Ala732Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800484C= | CA2128327611 | NPAS3 | c.2177C= (p.Ala726=) c.2186C= (p.Ala729=) c.2077C= c.793+2903C= c.2081C= (p.Ala694=) c.2138C= (p.Ala713=) c.2087C= (p.Ala696=) c.2192C= (p.Ala731=) c.2099C= (p.Ala700=) c.2198C= (p.Ala733=) c.2228C= (p.Ala743=) c.2219C= (p.Ala740=) c.2189C= (p.Ala730=) c.2132C= (p.Ala711=) c.2078C= (p.Ala693=) c.1871C= (p.Ala624=) c.2285C= (p.Ala762=) c.2279C= (p.Ala760=) c.2276C= (p.Ala759=) c.2336C= (p.Ala779=) c.2327C= (p.Ala776=) c.2246C= (p.Ala749=) c.2195C= (p.Ala732=) | |
| 14 | g.33800484C>G | CA389414142 | NPAS3 | c.2177C>G (p.Ala726Gly) c.2186C>G (p.Ala729Gly) c.2077C>G c.793+2903C>G c.2081C>G (p.Ala694Gly) c.2138C>G (p.Ala713Gly) c.2087C>G (p.Ala696Gly) c.2192C>G (p.Ala731Gly) c.2099C>G (p.Ala700Gly) c.2198C>G (p.Ala733Gly) c.2228C>G (p.Ala743Gly) c.2219C>G (p.Ala740Gly) c.2189C>G (p.Ala730Gly) c.2132C>G (p.Ala711Gly) c.2078C>G (p.Ala693Gly) c.1871C>G (p.Ala624Gly) c.2285C>G (p.Ala762Gly) c.2279C>G (p.Ala760Gly) c.2276C>G (p.Ala759Gly) c.2336C>G (p.Ala779Gly) c.2327C>G (p.Ala776Gly) c.2246C>G (p.Ala749Gly) c.2195C>G (p.Ala732Gly) | |
| 14 | g.33800484C>T | CA389414141 | NPAS3 | c.2177C>T (p.Ala726Val) c.2186C>T (p.Ala729Val) c.2077C>T c.793+2903C>T c.2081C>T (p.Ala694Val) c.2138C>T (p.Ala713Val) c.2087C>T (p.Ala696Val) c.2192C>T (p.Ala731Val) c.2099C>T (p.Ala700Val) c.2198C>T (p.Ala733Val) c.2228C>T (p.Ala743Val) c.2219C>T (p.Ala740Val) c.2189C>T (p.Ala730Val) c.2132C>T (p.Ala711Val) c.2078C>T (p.Ala693Val) c.1871C>T (p.Ala624Val) c.2285C>T (p.Ala762Val) c.2279C>T (p.Ala760Val) c.2276C>T (p.Ala759Val) c.2336C>T (p.Ala779Val) c.2327C>T (p.Ala776Val) c.2246C>T (p.Ala749Val) c.2195C>T (p.Ala732Val) | gnomAD v4 |
| 14 | g.33800486del | CA2624512038 | NPAS3 | c.2179del (p.Arg727AlafsTer?) c.2188del (p.Arg730AlafsTer?) c.2079del c.793+2905del c.2083del (p.Arg695AlafsTer?) c.2140del (p.Arg714AlafsTer?) c.2089del (p.Arg697AlafsTer?) c.2194del (p.Arg732AlafsTer?) c.2101del (p.Arg701AlafsTer?) c.2200del (p.Arg734AlafsTer?) c.2230del (p.Arg744AlafsTer?) c.2221del (p.Arg741AlafsTer?) c.2191del (p.Arg731AlafsTer?) c.2134del (p.Arg712AlafsTer?) c.2080del (p.Arg694AlafsTer?) c.1873del (p.Arg625AlafsTer?) c.2287del (p.Arg763AlafsTer?) c.2281del (p.Arg761AlafsTer?) c.2278del (p.Arg760AlafsTer?) c.2338del (p.Arg780AlafsTer?) c.2329del (p.Arg777AlafsTer?) c.2248del (p.Arg750AlafsTer?) c.2197del (p.Arg733AlafsTer?) | gnomAD v4 |
| 14 | g.33800484_33800485insAG | CA2553598910 | NPAS3 | c.2177_2178insAG (p.Arg727AlafsTer?) c.2186_2187insAG (p.Arg730AlafsTer?) c.2077_2078insAG c.793+2903_793+2904insAG c.2081_2082insAG (p.Arg695AlafsTer?) c.2138_2139insAG (p.Arg714AlafsTer?) c.2087_2088insAG (p.Arg697AlafsTer?) c.2192_2193insAG (p.Arg732AlafsTer?) c.2099_2100insAG (p.Arg701AlafsTer?) c.2198_2199insAG (p.Arg734AlafsTer?) c.2228_2229insAG (p.Arg744AlafsTer?) c.2219_2220insAG (p.Arg741AlafsTer?) c.2189_2190insAG (p.Arg731AlafsTer?) c.2132_2133insAG (p.Arg712AlafsTer?) c.2078_2079insAG (p.Arg694AlafsTer?) c.1871_1872insAG (p.Arg625AlafsTer?) c.2285_2286insAG (p.Arg763AlafsTer?) c.2279_2280insAG (p.Arg761AlafsTer?) c.2276_2277insAG (p.Arg760AlafsTer?) c.2336_2337insAG (p.Arg780AlafsTer?) c.2327_2328insAG (p.Arg777AlafsTer?) c.2246_2247insAG (p.Arg750AlafsTer?) c.2195_2196insAG (p.Arg733AlafsTer?) | |
| 14 | g.33800485C>A | CA486093232 | NPAS3 | c.2178C>A (p.Ala726=) c.2187C>A (p.Ala729=) c.2078C>A c.793+2904C>A c.2082C>A (p.Ala694=) c.2139C>A (p.Ala713=) c.2088C>A (p.Ala696=) c.2193C>A (p.Ala731=) c.2100C>A (p.Ala700=) c.2199C>A (p.Ala733=) c.2229C>A (p.Ala743=) c.2220C>A (p.Ala740=) c.2190C>A (p.Ala730=) c.2133C>A (p.Ala711=) c.2079C>A (p.Ala693=) c.1872C>A (p.Ala624=) c.2286C>A (p.Ala762=) c.2280C>A (p.Ala760=) c.2277C>A (p.Ala759=) c.2337C>A (p.Ala779=) c.2328C>A (p.Ala776=) c.2247C>A (p.Ala749=) c.2196C>A (p.Ala732=) | gnomAD v4 |
| 14 | g.33800485C>G | CA486093233 | NPAS3 | c.2178C>G (p.Ala726=) c.2187C>G (p.Ala729=) c.2078C>G c.793+2904C>G c.2082C>G (p.Ala694=) c.2139C>G (p.Ala713=) c.2088C>G (p.Ala696=) c.2193C>G (p.Ala731=) c.2100C>G (p.Ala700=) c.2199C>G (p.Ala733=) c.2229C>G (p.Ala743=) c.2220C>G (p.Ala740=) c.2190C>G (p.Ala730=) c.2133C>G (p.Ala711=) c.2079C>G (p.Ala693=) c.1872C>G (p.Ala624=) c.2286C>G (p.Ala762=) c.2280C>G (p.Ala760=) c.2277C>G (p.Ala759=) c.2337C>G (p.Ala779=) c.2328C>G (p.Ala776=) c.2247C>G (p.Ala749=) c.2196C>G (p.Ala732=) | gnomAD v4 |
| 14 | g.33800485C>T | CA486093234 | NPAS3 | c.2178C>T (p.Ala726=) c.2187C>T (p.Ala729=) c.2078C>T c.793+2904C>T c.2082C>T (p.Ala694=) c.2139C>T (p.Ala713=) c.2088C>T (p.Ala696=) c.2193C>T (p.Ala731=) c.2100C>T (p.Ala700=) c.2199C>T (p.Ala733=) c.2229C>T (p.Ala743=) c.2220C>T (p.Ala740=) c.2190C>T (p.Ala730=) c.2133C>T (p.Ala711=) c.2079C>T (p.Ala693=) c.1872C>T (p.Ala624=) c.2286C>T (p.Ala762=) c.2280C>T (p.Ala760=) c.2277C>T (p.Ala759=) c.2337C>T (p.Ala779=) c.2328C>T (p.Ala776=) c.2247C>T (p.Ala749=) c.2196C>T (p.Ala732=) | gnomAD v4 |
| 14 | g.33800486C>A | CA389414143 | NPAS3 | c.2179C>A (p.Arg727Ser) c.2188C>A (p.Arg730Ser) c.2079C>A c.793+2905C>A c.2083C>A (p.Arg695Ser) c.2140C>A (p.Arg714Ser) c.2089C>A (p.Arg697Ser) c.2194C>A (p.Arg732Ser) c.2101C>A (p.Arg701Ser) c.2200C>A (p.Arg734Ser) c.2230C>A (p.Arg744Ser) c.2221C>A (p.Arg741Ser) c.2191C>A (p.Arg731Ser) c.2134C>A (p.Arg712Ser) c.2080C>A (p.Arg694Ser) c.1873C>A (p.Arg625Ser) c.2287C>A (p.Arg763Ser) c.2281C>A (p.Arg761Ser) c.2278C>A (p.Arg760Ser) c.2338C>A (p.Arg780Ser) c.2329C>A (p.Arg777Ser) c.2248C>A (p.Arg750Ser) c.2197C>A (p.Arg733Ser) | gnomAD v4 |
| 14 | g.33800486C>G | CA389414144 | NPAS3 | c.2179C>G (p.Arg727Gly) c.2188C>G (p.Arg730Gly) c.2079C>G c.793+2905C>G c.2083C>G (p.Arg695Gly) c.2140C>G (p.Arg714Gly) c.2089C>G (p.Arg697Gly) c.2194C>G (p.Arg732Gly) c.2101C>G (p.Arg701Gly) c.2200C>G (p.Arg734Gly) c.2230C>G (p.Arg744Gly) c.2221C>G (p.Arg741Gly) c.2191C>G (p.Arg731Gly) c.2134C>G (p.Arg712Gly) c.2080C>G (p.Arg694Gly) c.1873C>G (p.Arg625Gly) c.2287C>G (p.Arg763Gly) c.2281C>G (p.Arg761Gly) c.2278C>G (p.Arg760Gly) c.2338C>G (p.Arg780Gly) c.2329C>G (p.Arg777Gly) c.2248C>G (p.Arg750Gly) c.2197C>G (p.Arg733Gly) | |
| 14 | g.33800486C>T | CA389414145 | NPAS3 | c.2179C>T (p.Arg727Cys) c.2188C>T (p.Arg730Cys) c.2079C>T c.793+2905C>T c.2083C>T (p.Arg695Cys) c.2140C>T (p.Arg714Cys) c.2089C>T (p.Arg697Cys) c.2194C>T (p.Arg732Cys) c.2101C>T (p.Arg701Cys) c.2200C>T (p.Arg734Cys) c.2230C>T (p.Arg744Cys) c.2221C>T (p.Arg741Cys) c.2191C>T (p.Arg731Cys) c.2134C>T (p.Arg712Cys) c.2080C>T (p.Arg694Cys) c.1873C>T (p.Arg625Cys) c.2287C>T (p.Arg763Cys) c.2281C>T (p.Arg761Cys) c.2278C>T (p.Arg760Cys) c.2338C>T (p.Arg780Cys) c.2329C>T (p.Arg777Cys) c.2248C>T (p.Arg750Cys) c.2197C>T (p.Arg733Cys) | gnomAD v4 |
| 14 | g.33800486_33800487insCGCG | CA2562813026 | NPAS3 | c.2179_2180insCGCG (p.Arg727ProfsTer?) c.2188_2189insCGCG (p.Arg730ProfsTer?) c.2079_2080insCGCG c.793+2905_793+2906insCGCG c.2083_2084insCGCG (p.Arg695ProfsTer?) c.2140_2141insCGCG (p.Arg714ProfsTer?) c.2089_2090insCGCG (p.Arg697ProfsTer?) c.2194_2195insCGCG (p.Arg732ProfsTer?) c.2101_2102insCGCG (p.Arg701ProfsTer?) c.2200_2201insCGCG (p.Arg734ProfsTer?) c.2230_2231insCGCG (p.Arg744ProfsTer?) c.2221_2222insCGCG (p.Arg741ProfsTer?) c.2191_2192insCGCG (p.Arg731ProfsTer?) c.2134_2135insCGCG (p.Arg712ProfsTer?) c.2080_2081insCGCG (p.Arg694ProfsTer?) c.1873_1874insCGCG (p.Arg625ProfsTer?) c.2287_2288insCGCG (p.Arg763ProfsTer?) c.2281_2282insCGCG (p.Arg761ProfsTer?) c.2278_2279insCGCG (p.Arg760ProfsTer?) c.2338_2339insCGCG (p.Arg780ProfsTer?) c.2329_2330insCGCG (p.Arg777ProfsTer?) c.2248_2249insCGCG (p.Arg750ProfsTer?) c.2197_2198insCGCG (p.Arg733ProfsTer?) | |
| 14 | g.33800487del | CA2624512039 | NPAS3 | c.2180del (p.Arg727ProfsTer?) c.2189del (p.Arg730ProfsTer?) c.2080del c.793+2906del c.2084del (p.Arg695ProfsTer?) c.2141del (p.Arg714ProfsTer?) c.2090del (p.Arg697ProfsTer?) c.2195del (p.Arg732ProfsTer?) c.2102del (p.Arg701ProfsTer?) c.2201del (p.Arg734ProfsTer?) c.2231del (p.Arg744ProfsTer?) c.2222del (p.Arg741ProfsTer?) c.2192del (p.Arg731ProfsTer?) c.2135del (p.Arg712ProfsTer?) c.2081del (p.Arg694ProfsTer?) c.1874del (p.Arg625ProfsTer?) c.2288del (p.Arg763ProfsTer?) c.2282del (p.Arg761ProfsTer?) c.2279del (p.Arg760ProfsTer?) c.2339del (p.Arg780ProfsTer?) c.2330del (p.Arg777ProfsTer?) c.2249del (p.Arg750ProfsTer?) c.2198del (p.Arg733ProfsTer?) | gnomAD v4 |
| 14 | g.33800487G>A | CA389414146 | NPAS3 | c.2180G>A (p.Arg727His) c.2189G>A (p.Arg730His) c.2080G>A c.793+2906G>A c.2084G>A (p.Arg695His) c.2141G>A (p.Arg714His) c.2090G>A (p.Arg697His) c.2195G>A (p.Arg732His) c.2102G>A (p.Arg701His) c.2201G>A (p.Arg734His) c.2231G>A (p.Arg744His) c.2222G>A (p.Arg741His) c.2192G>A (p.Arg731His) c.2135G>A (p.Arg712His) c.2081G>A (p.Arg694His) c.1874G>A (p.Arg625His) c.2288G>A (p.Arg763His) c.2282G>A (p.Arg761His) c.2279G>A (p.Arg760His) c.2339G>A (p.Arg780His) c.2330G>A (p.Arg777His) c.2249G>A (p.Arg750His) c.2198G>A (p.Arg733His) | gnomAD v4 |
| 14 | g.33800487G>C | CA389414147 | NPAS3 | c.2180G>C (p.Arg727Pro) c.2189G>C (p.Arg730Pro) c.2080G>C c.793+2906G>C c.2084G>C (p.Arg695Pro) c.2141G>C (p.Arg714Pro) c.2090G>C (p.Arg697Pro) c.2195G>C (p.Arg732Pro) c.2102G>C (p.Arg701Pro) c.2201G>C (p.Arg734Pro) c.2231G>C (p.Arg744Pro) c.2222G>C (p.Arg741Pro) c.2192G>C (p.Arg731Pro) c.2135G>C (p.Arg712Pro) c.2081G>C (p.Arg694Pro) c.1874G>C (p.Arg625Pro) c.2288G>C (p.Arg763Pro) c.2282G>C (p.Arg761Pro) c.2279G>C (p.Arg760Pro) c.2339G>C (p.Arg780Pro) c.2330G>C (p.Arg777Pro) c.2249G>C (p.Arg750Pro) c.2198G>C (p.Arg733Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800487G= | CA2128327614 | NPAS3 | c.2180G= (p.Arg727=) c.2189G= (p.Arg730=) c.2080G= c.793+2906G= c.2084G= (p.Arg695=) c.2141G= (p.Arg714=) c.2090G= (p.Arg697=) c.2195G= (p.Arg732=) c.2102G= (p.Arg701=) c.2201G= (p.Arg734=) c.2231G= (p.Arg744=) c.2222G= (p.Arg741=) c.2192G= (p.Arg731=) c.2135G= (p.Arg712=) c.2081G= (p.Arg694=) c.1874G= (p.Arg625=) c.2288G= (p.Arg763=) c.2282G= (p.Arg761=) c.2279G= (p.Arg760=) c.2339G= (p.Arg780=) c.2330G= (p.Arg777=) c.2249G= (p.Arg750=) c.2198G= (p.Arg733=) | |
| 14 | g.33800487G>T | CA389414148 | NPAS3 | c.2180G>T (p.Arg727Leu) c.2189G>T (p.Arg730Leu) c.2080G>T c.793+2906G>T c.2084G>T (p.Arg695Leu) c.2141G>T (p.Arg714Leu) c.2090G>T (p.Arg697Leu) c.2195G>T (p.Arg732Leu) c.2102G>T (p.Arg701Leu) c.2201G>T (p.Arg734Leu) c.2231G>T (p.Arg744Leu) c.2222G>T (p.Arg741Leu) c.2192G>T (p.Arg731Leu) c.2135G>T (p.Arg712Leu) c.2081G>T (p.Arg694Leu) c.1874G>T (p.Arg625Leu) c.2288G>T (p.Arg763Leu) c.2282G>T (p.Arg761Leu) c.2279G>T (p.Arg760Leu) c.2339G>T (p.Arg780Leu) c.2330G>T (p.Arg777Leu) c.2249G>T (p.Arg750Leu) c.2198G>T (p.Arg733Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800488C>A | CA486093238 | NPAS3 | c.2181C>A (p.Arg727=) c.2190C>A (p.Arg730=) c.2081C>A c.793+2907C>A c.2085C>A (p.Arg695=) c.2142C>A (p.Arg714=) c.2091C>A (p.Arg697=) c.2196C>A (p.Arg732=) c.2103C>A (p.Arg701=) c.2202C>A (p.Arg734=) c.2232C>A (p.Arg744=) c.2223C>A (p.Arg741=) c.2193C>A (p.Arg731=) c.2136C>A (p.Arg712=) c.2082C>A (p.Arg694=) c.1875C>A (p.Arg625=) c.2289C>A (p.Arg763=) c.2283C>A (p.Arg761=) c.2280C>A (p.Arg760=) c.2340C>A (p.Arg780=) c.2331C>A (p.Arg777=) c.2250C>A (p.Arg750=) c.2199C>A (p.Arg733=) | gnomAD v4 |
| 14 | g.33800488C>G | CA486093239 | NPAS3 | c.2181C>G (p.Arg727=) c.2190C>G (p.Arg730=) c.2081C>G c.793+2907C>G c.2085C>G (p.Arg695=) c.2142C>G (p.Arg714=) c.2091C>G (p.Arg697=) c.2196C>G (p.Arg732=) c.2103C>G (p.Arg701=) c.2202C>G (p.Arg734=) c.2232C>G (p.Arg744=) c.2223C>G (p.Arg741=) c.2193C>G (p.Arg731=) c.2136C>G (p.Arg712=) c.2082C>G (p.Arg694=) c.1875C>G (p.Arg625=) c.2289C>G (p.Arg763=) c.2283C>G (p.Arg761=) c.2280C>G (p.Arg760=) c.2340C>G (p.Arg780=) c.2331C>G (p.Arg777=) c.2250C>G (p.Arg750=) c.2199C>G (p.Arg733=) | gnomAD v4 |