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.33800369T>A | CA389413743 | NPAS3 | c.2062T>A (p.Ser688Thr) c.2071T>A (p.Ser691Thr) c.1962T>A c.793+2788T>A c.1966T>A (p.Ser656Thr) c.2023T>A (p.Ser675Thr) c.1972T>A (p.Ser658Thr) c.2077T>A (p.Ser693Thr) c.1984T>A (p.Ser662Thr) c.2083T>A (p.Ser695Thr) c.2113T>A (p.Ser705Thr) c.2104T>A (p.Ser702Thr) c.2074T>A (p.Ser692Thr) c.2017T>A (p.Ser673Thr) c.1963T>A (p.Ser655Thr) c.1756T>A (p.Ser586Thr) c.2170T>A (p.Ser724Thr) c.2164T>A (p.Ser722Thr) c.2161T>A (p.Ser721Thr) c.2221T>A (p.Ser741Thr) c.2212T>A (p.Ser738Thr) c.2131T>A (p.Ser711Thr) c.2080T>A (p.Ser694Thr) | |
| 14 | g.33800369T>C | CA389413744 | NPAS3 | c.2062T>C (p.Ser688Pro) c.2071T>C (p.Ser691Pro) c.1962T>C c.793+2788T>C c.1966T>C (p.Ser656Pro) c.2023T>C (p.Ser675Pro) c.1972T>C (p.Ser658Pro) c.2077T>C (p.Ser693Pro) c.1984T>C (p.Ser662Pro) c.2083T>C (p.Ser695Pro) c.2113T>C (p.Ser705Pro) c.2104T>C (p.Ser702Pro) c.2074T>C (p.Ser692Pro) c.2017T>C (p.Ser673Pro) c.1963T>C (p.Ser655Pro) c.1756T>C (p.Ser586Pro) c.2170T>C (p.Ser724Pro) c.2164T>C (p.Ser722Pro) c.2161T>C (p.Ser721Pro) c.2221T>C (p.Ser741Pro) c.2212T>C (p.Ser738Pro) c.2131T>C (p.Ser711Pro) c.2080T>C (p.Ser694Pro) | |
| 14 | g.33800369T>G | CA389413745 | NPAS3 | c.2062T>G (p.Ser688Ala) c.2071T>G (p.Ser691Ala) c.1962T>G c.793+2788T>G c.1966T>G (p.Ser656Ala) c.2023T>G (p.Ser675Ala) c.1972T>G (p.Ser658Ala) c.2077T>G (p.Ser693Ala) c.1984T>G (p.Ser662Ala) c.2083T>G (p.Ser695Ala) c.2113T>G (p.Ser705Ala) c.2104T>G (p.Ser702Ala) c.2074T>G (p.Ser692Ala) c.2017T>G (p.Ser673Ala) c.1963T>G (p.Ser655Ala) c.1756T>G (p.Ser586Ala) c.2170T>G (p.Ser724Ala) c.2164T>G (p.Ser722Ala) c.2161T>G (p.Ser721Ala) c.2221T>G (p.Ser741Ala) c.2212T>G (p.Ser738Ala) c.2131T>G (p.Ser711Ala) c.2080T>G (p.Ser694Ala) | |
| 14 | g.33800370C>A | CA389413748 | NPAS3 | c.2063C>A (p.Ser688Tyr) c.2072C>A (p.Ser691Tyr) c.1963C>A c.793+2789C>A c.1967C>A (p.Ser656Tyr) c.2024C>A (p.Ser675Tyr) c.1973C>A (p.Ser658Tyr) c.2078C>A (p.Ser693Tyr) c.1985C>A (p.Ser662Tyr) c.2084C>A (p.Ser695Tyr) c.2114C>A (p.Ser705Tyr) c.2105C>A (p.Ser702Tyr) c.2075C>A (p.Ser692Tyr) c.2018C>A (p.Ser673Tyr) c.1964C>A (p.Ser655Tyr) c.1757C>A (p.Ser586Tyr) c.2171C>A (p.Ser724Tyr) c.2165C>A (p.Ser722Tyr) c.2162C>A (p.Ser721Tyr) c.2222C>A (p.Ser741Tyr) c.2213C>A (p.Ser738Tyr) c.2132C>A (p.Ser711Tyr) c.2081C>A (p.Ser694Tyr) | |
| 14 | g.33800370C= | CA2128327318 | NPAS3 | c.2063C= (p.Ser688=) c.2072C= (p.Ser691=) c.1963C= c.793+2789C= c.1967C= (p.Ser656=) c.2024C= (p.Ser675=) c.1973C= (p.Ser658=) c.2078C= (p.Ser693=) c.1985C= (p.Ser662=) c.2084C= (p.Ser695=) c.2114C= (p.Ser705=) c.2105C= (p.Ser702=) c.2075C= (p.Ser692=) c.2018C= (p.Ser673=) c.1964C= (p.Ser655=) c.1757C= (p.Ser586=) c.2171C= (p.Ser724=) c.2165C= (p.Ser722=) c.2162C= (p.Ser721=) c.2222C= (p.Ser741=) c.2213C= (p.Ser738=) c.2132C= (p.Ser711=) c.2081C= (p.Ser694=) | |
| 14 | g.33800370C>G | CA389413750 | NPAS3 | c.2063C>G (p.Ser688Cys) c.2072C>G (p.Ser691Cys) c.1963C>G c.793+2789C>G c.1967C>G (p.Ser656Cys) c.2024C>G (p.Ser675Cys) c.1973C>G (p.Ser658Cys) c.2078C>G (p.Ser693Cys) c.1985C>G (p.Ser662Cys) c.2084C>G (p.Ser695Cys) c.2114C>G (p.Ser705Cys) c.2105C>G (p.Ser702Cys) c.2075C>G (p.Ser692Cys) c.2018C>G (p.Ser673Cys) c.1964C>G (p.Ser655Cys) c.1757C>G (p.Ser586Cys) c.2171C>G (p.Ser724Cys) c.2165C>G (p.Ser722Cys) c.2162C>G (p.Ser721Cys) c.2222C>G (p.Ser741Cys) c.2213C>G (p.Ser738Cys) c.2132C>G (p.Ser711Cys) c.2081C>G (p.Ser694Cys) | |
| 14 | g.33800370C>T | CA7150928 | NPAS3 | c.2063C>T (p.Ser688Phe) c.2072C>T (p.Ser691Phe) c.1963C>T c.793+2789C>T c.1967C>T (p.Ser656Phe) c.2024C>T (p.Ser675Phe) c.1973C>T (p.Ser658Phe) c.2078C>T (p.Ser693Phe) c.1985C>T (p.Ser662Phe) c.2084C>T (p.Ser695Phe) c.2114C>T (p.Ser705Phe) c.2105C>T (p.Ser702Phe) c.2075C>T (p.Ser692Phe) c.2018C>T (p.Ser673Phe) c.1964C>T (p.Ser655Phe) c.1757C>T (p.Ser586Phe) c.2171C>T (p.Ser724Phe) c.2165C>T (p.Ser722Phe) c.2162C>T (p.Ser721Phe) c.2222C>T (p.Ser741Phe) c.2213C>T (p.Ser738Phe) c.2132C>T (p.Ser711Phe) c.2081C>T (p.Ser694Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800371T>A | CA486093061 | NPAS3 | c.2064T>A (p.Ser688=) c.2073T>A (p.Ser691=) c.1964T>A c.793+2790T>A c.1968T>A (p.Ser656=) c.2025T>A (p.Ser675=) c.1974T>A (p.Ser658=) c.2079T>A (p.Ser693=) c.1986T>A (p.Ser662=) c.2085T>A (p.Ser695=) c.2115T>A (p.Ser705=) c.2106T>A (p.Ser702=) c.2076T>A (p.Ser692=) c.2019T>A (p.Ser673=) c.1965T>A (p.Ser655=) c.1758T>A (p.Ser586=) c.2172T>A (p.Ser724=) c.2166T>A (p.Ser722=) c.2163T>A (p.Ser721=) c.2223T>A (p.Ser741=) c.2214T>A (p.Ser738=) c.2133T>A (p.Ser711=) c.2082T>A (p.Ser694=) | |
| 14 | g.33800371T>C | CA486093063 | NPAS3 | c.2064T>C (p.Ser688=) c.2073T>C (p.Ser691=) c.1964T>C c.793+2790T>C c.1968T>C (p.Ser656=) c.2025T>C (p.Ser675=) c.1974T>C (p.Ser658=) c.2079T>C (p.Ser693=) c.1986T>C (p.Ser662=) c.2085T>C (p.Ser695=) c.2115T>C (p.Ser705=) c.2106T>C (p.Ser702=) c.2076T>C (p.Ser692=) c.2019T>C (p.Ser673=) c.1965T>C (p.Ser655=) c.1758T>C (p.Ser586=) c.2172T>C (p.Ser724=) c.2166T>C (p.Ser722=) c.2163T>C (p.Ser721=) c.2223T>C (p.Ser741=) c.2214T>C (p.Ser738=) c.2133T>C (p.Ser711=) c.2082T>C (p.Ser694=) | dbSNP |
| 14 | g.33800371T>G | CA486093064 | NPAS3 | c.2064T>G (p.Ser688=) c.2073T>G (p.Ser691=) c.1964T>G c.793+2790T>G c.1968T>G (p.Ser656=) c.2025T>G (p.Ser675=) c.1974T>G (p.Ser658=) c.2079T>G (p.Ser693=) c.1986T>G (p.Ser662=) c.2085T>G (p.Ser695=) c.2115T>G (p.Ser705=) c.2106T>G (p.Ser702=) c.2076T>G (p.Ser692=) c.2019T>G (p.Ser673=) c.1965T>G (p.Ser655=) c.1758T>G (p.Ser586=) c.2172T>G (p.Ser724=) c.2166T>G (p.Ser722=) c.2163T>G (p.Ser721=) c.2223T>G (p.Ser741=) c.2214T>G (p.Ser738=) c.2133T>G (p.Ser711=) c.2082T>G (p.Ser694=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800371T= | CA2128327321 | NPAS3 | c.2064T= (p.Ser688=) c.2073T= (p.Ser691=) c.1964T= c.793+2790T= c.1968T= (p.Ser656=) c.2025T= (p.Ser675=) c.1974T= (p.Ser658=) c.2079T= (p.Ser693=) c.1986T= (p.Ser662=) c.2085T= (p.Ser695=) c.2115T= (p.Ser705=) c.2106T= (p.Ser702=) c.2076T= (p.Ser692=) c.2019T= (p.Ser673=) c.1965T= (p.Ser655=) c.1758T= (p.Ser586=) c.2172T= (p.Ser724=) c.2166T= (p.Ser722=) c.2163T= (p.Ser721=) c.2223T= (p.Ser741=) c.2214T= (p.Ser738=) c.2133T= (p.Ser711=) c.2082T= (p.Ser694=) | |
| 14 | g.33800371_33800372del | CA2575504024 | NPAS3 | c.2064_2065del (p.Glu689AlafsTer?) c.2073_2074del (p.Glu692AlafsTer?) c.1964_1965del c.793+2790_793+2791del c.1968_1969del (p.Glu657AlafsTer?) c.2025_2026del (p.Glu676AlafsTer?) c.1974_1975del (p.Glu659AlafsTer?) c.2079_2080del (p.Glu694AlafsTer?) c.1986_1987del (p.Glu663AlafsTer?) c.2085_2086del (p.Glu696AlafsTer?) c.2115_2116del (p.Glu706AlafsTer?) c.2106_2107del (p.Glu703AlafsTer?) c.2076_2077del (p.Glu693AlafsTer?) c.2019_2020del (p.Glu674AlafsTer?) c.1965_1966del (p.Glu656AlafsTer?) c.1758_1759del (p.Glu587AlafsTer?) c.2172_2173del (p.Glu725AlafsTer?) c.2166_2167del (p.Glu723AlafsTer?) c.2163_2164del (p.Glu722AlafsTer?) c.2223_2224del (p.Glu742AlafsTer?) c.2214_2215del (p.Glu739AlafsTer?) c.2133_2134del (p.Glu712AlafsTer?) c.2082_2083del (p.Glu695AlafsTer?) | |
| 14 | g.33800372G>A | CA389413752 | NPAS3 | c.2065G>A (p.Glu689Lys) c.2074G>A (p.Glu692Lys) c.1965G>A c.793+2791G>A c.1969G>A (p.Glu657Lys) c.2026G>A (p.Glu676Lys) c.1975G>A (p.Glu659Lys) c.2080G>A (p.Glu694Lys) c.1987G>A (p.Glu663Lys) c.2086G>A (p.Glu696Lys) c.2116G>A (p.Glu706Lys) c.2107G>A (p.Glu703Lys) c.2077G>A (p.Glu693Lys) c.2020G>A (p.Glu674Lys) c.1966G>A (p.Glu656Lys) c.1759G>A (p.Glu587Lys) c.2173G>A (p.Glu725Lys) c.2167G>A (p.Glu723Lys) c.2164G>A (p.Glu722Lys) c.2224G>A (p.Glu742Lys) c.2215G>A (p.Glu739Lys) c.2134G>A (p.Glu712Lys) c.2083G>A (p.Glu695Lys) | |
| 14 | g.33800372G>C | CA389413754 | NPAS3 | c.2065G>C (p.Glu689Gln) c.2074G>C (p.Glu692Gln) c.1965G>C c.793+2791G>C c.1969G>C (p.Glu657Gln) c.2026G>C (p.Glu676Gln) c.1975G>C (p.Glu659Gln) c.2080G>C (p.Glu694Gln) c.1987G>C (p.Glu663Gln) c.2086G>C (p.Glu696Gln) c.2116G>C (p.Glu706Gln) c.2107G>C (p.Glu703Gln) c.2077G>C (p.Glu693Gln) c.2020G>C (p.Glu674Gln) c.1966G>C (p.Glu656Gln) c.1759G>C (p.Glu587Gln) c.2173G>C (p.Glu725Gln) c.2167G>C (p.Glu723Gln) c.2164G>C (p.Glu722Gln) c.2224G>C (p.Glu742Gln) c.2215G>C (p.Glu739Gln) c.2134G>C (p.Glu712Gln) c.2083G>C (p.Glu695Gln) | |
| 14 | g.33800372G>T | CA389413755 | NPAS3 | c.2065G>T (p.Glu689Ter) c.2074G>T (p.Glu692Ter) c.1965G>T c.793+2791G>T c.1969G>T (p.Glu657Ter) c.2026G>T (p.Glu676Ter) c.1975G>T (p.Glu659Ter) c.2080G>T (p.Glu694Ter) c.1987G>T (p.Glu663Ter) c.2086G>T (p.Glu696Ter) c.2116G>T (p.Glu706Ter) c.2107G>T (p.Glu703Ter) c.2077G>T (p.Glu693Ter) c.2020G>T (p.Glu674Ter) c.1966G>T (p.Glu656Ter) c.1759G>T (p.Glu587Ter) c.2173G>T (p.Glu725Ter) c.2167G>T (p.Glu723Ter) c.2164G>T (p.Glu722Ter) c.2224G>T (p.Glu742Ter) c.2215G>T (p.Glu739Ter) c.2134G>T (p.Glu712Ter) c.2083G>T (p.Glu695Ter) | |
| 14 | g.33800373A>C | CA389413757 | NPAS3 | c.2066A>C (p.Glu689Ala) c.2075A>C (p.Glu692Ala) c.1966A>C c.793+2792A>C c.1970A>C (p.Glu657Ala) c.2027A>C (p.Glu676Ala) c.1976A>C (p.Glu659Ala) c.2081A>C (p.Glu694Ala) c.1988A>C (p.Glu663Ala) c.2087A>C (p.Glu696Ala) c.2117A>C (p.Glu706Ala) c.2108A>C (p.Glu703Ala) c.2078A>C (p.Glu693Ala) c.2021A>C (p.Glu674Ala) c.1967A>C (p.Glu656Ala) c.1760A>C (p.Glu587Ala) c.2174A>C (p.Glu725Ala) c.2168A>C (p.Glu723Ala) c.2165A>C (p.Glu722Ala) c.2225A>C (p.Glu742Ala) c.2216A>C (p.Glu739Ala) c.2135A>C (p.Glu712Ala) c.2084A>C (p.Glu695Ala) | gnomAD v4 |
| 14 | g.33800373A>G | CA389413759 | NPAS3 | c.2066A>G (p.Glu689Gly) c.2075A>G (p.Glu692Gly) c.1966A>G c.793+2792A>G c.1970A>G (p.Glu657Gly) c.2027A>G (p.Glu676Gly) c.1976A>G (p.Glu659Gly) c.2081A>G (p.Glu694Gly) c.1988A>G (p.Glu663Gly) c.2087A>G (p.Glu696Gly) c.2117A>G (p.Glu706Gly) c.2108A>G (p.Glu703Gly) c.2078A>G (p.Glu693Gly) c.2021A>G (p.Glu674Gly) c.1967A>G (p.Glu656Gly) c.1760A>G (p.Glu587Gly) c.2174A>G (p.Glu725Gly) c.2168A>G (p.Glu723Gly) c.2165A>G (p.Glu722Gly) c.2225A>G (p.Glu742Gly) c.2216A>G (p.Glu739Gly) c.2135A>G (p.Glu712Gly) c.2084A>G (p.Glu695Gly) | |
| 14 | g.33800373A>T | CA389413761 | NPAS3 | c.2066A>T (p.Glu689Val) c.2075A>T (p.Glu692Val) c.1966A>T c.793+2792A>T c.1970A>T (p.Glu657Val) c.2027A>T (p.Glu676Val) c.1976A>T (p.Glu659Val) c.2081A>T (p.Glu694Val) c.1988A>T (p.Glu663Val) c.2087A>T (p.Glu696Val) c.2117A>T (p.Glu706Val) c.2108A>T (p.Glu703Val) c.2078A>T (p.Glu693Val) c.2021A>T (p.Glu674Val) c.1967A>T (p.Glu656Val) c.1760A>T (p.Glu587Val) c.2174A>T (p.Glu725Val) c.2168A>T (p.Glu723Val) c.2165A>T (p.Glu722Val) c.2225A>T (p.Glu742Val) c.2216A>T (p.Glu739Val) c.2135A>T (p.Glu712Val) c.2084A>T (p.Glu695Val) | |
| 14 | g.33800374G>A | CA486093065 | NPAS3 | c.2067G>A (p.Glu689=) c.2076G>A (p.Glu692=) c.1967G>A c.793+2793G>A c.1971G>A (p.Glu657=) c.2028G>A (p.Glu676=) c.1977G>A (p.Glu659=) c.2082G>A (p.Glu694=) c.1989G>A (p.Glu663=) c.2088G>A (p.Glu696=) c.2118G>A (p.Glu706=) c.2109G>A (p.Glu703=) c.2079G>A (p.Glu693=) c.2022G>A (p.Glu674=) c.1968G>A (p.Glu656=) c.1761G>A (p.Glu587=) c.2175G>A (p.Glu725=) c.2169G>A (p.Glu723=) c.2166G>A (p.Glu722=) c.2226G>A (p.Glu742=) c.2217G>A (p.Glu739=) c.2136G>A (p.Glu712=) c.2085G>A (p.Glu695=) | dbSNP |
| 14 | g.33800374G>C | CA389413763 | NPAS3 | c.2067G>C (p.Glu689Asp) c.2076G>C (p.Glu692Asp) c.1967G>C c.793+2793G>C c.1971G>C (p.Glu657Asp) c.2028G>C (p.Glu676Asp) c.1977G>C (p.Glu659Asp) c.2082G>C (p.Glu694Asp) c.1989G>C (p.Glu663Asp) c.2088G>C (p.Glu696Asp) c.2118G>C (p.Glu706Asp) c.2109G>C (p.Glu703Asp) c.2079G>C (p.Glu693Asp) c.2022G>C (p.Glu674Asp) c.1968G>C (p.Glu656Asp) c.1761G>C (p.Glu587Asp) c.2175G>C (p.Glu725Asp) c.2169G>C (p.Glu723Asp) c.2166G>C (p.Glu722Asp) c.2226G>C (p.Glu742Asp) c.2217G>C (p.Glu739Asp) c.2136G>C (p.Glu712Asp) c.2085G>C (p.Glu695Asp) | |
| 14 | g.33800374G= | CA2128327324 | NPAS3 | c.2067G= (p.Glu689=) c.2076G= (p.Glu692=) c.1967G= c.793+2793G= c.1971G= (p.Glu657=) c.2028G= (p.Glu676=) c.1977G= (p.Glu659=) c.2082G= (p.Glu694=) c.1989G= (p.Glu663=) c.2088G= (p.Glu696=) c.2118G= (p.Glu706=) c.2109G= (p.Glu703=) c.2079G= (p.Glu693=) c.2022G= (p.Glu674=) c.1968G= (p.Glu656=) c.1761G= (p.Glu587=) c.2175G= (p.Glu725=) c.2169G= (p.Glu723=) c.2166G= (p.Glu722=) c.2226G= (p.Glu742=) c.2217G= (p.Glu739=) c.2136G= (p.Glu712=) c.2085G= (p.Glu695=) | |
| 14 | g.33800374G>T | CA389413765 | NPAS3 | c.2067G>T (p.Glu689Asp) c.2076G>T (p.Glu692Asp) c.1967G>T c.793+2793G>T c.1971G>T (p.Glu657Asp) c.2028G>T (p.Glu676Asp) c.1977G>T (p.Glu659Asp) c.2082G>T (p.Glu694Asp) c.1989G>T (p.Glu663Asp) c.2088G>T (p.Glu696Asp) c.2118G>T (p.Glu706Asp) c.2109G>T (p.Glu703Asp) c.2079G>T (p.Glu693Asp) c.2022G>T (p.Glu674Asp) c.1968G>T (p.Glu656Asp) c.1761G>T (p.Glu587Asp) c.2175G>T (p.Glu725Asp) c.2169G>T (p.Glu723Asp) c.2166G>T (p.Glu722Asp) c.2226G>T (p.Glu742Asp) c.2217G>T (p.Glu739Asp) c.2136G>T (p.Glu712Asp) c.2085G>T (p.Glu695Asp) | |
| 14 | g.33800375C>A | CA389413767 | NPAS3 | c.2068C>A (p.His690Asn) c.2077C>A (p.His693Asn) c.1968C>A c.793+2794C>A c.1972C>A (p.His658Asn) c.2029C>A (p.His677Asn) c.1978C>A (p.His660Asn) c.2083C>A (p.His695Asn) c.1990C>A (p.His664Asn) c.2089C>A (p.His697Asn) c.2119C>A (p.His707Asn) c.2110C>A (p.His704Asn) c.2080C>A (p.His694Asn) c.2023C>A (p.His675Asn) c.1969C>A (p.His657Asn) c.1762C>A (p.His588Asn) c.2176C>A (p.His726Asn) c.2170C>A (p.His724Asn) c.2167C>A (p.His723Asn) c.2227C>A (p.His743Asn) c.2218C>A (p.His740Asn) c.2137C>A (p.His713Asn) c.2086C>A (p.His696Asn) | |
| 14 | g.33800375C>G | CA389413768 | NPAS3 | c.2068C>G (p.His690Asp) c.2077C>G (p.His693Asp) c.1968C>G c.793+2794C>G c.1972C>G (p.His658Asp) c.2029C>G (p.His677Asp) c.1978C>G (p.His660Asp) c.2083C>G (p.His695Asp) c.1990C>G (p.His664Asp) c.2089C>G (p.His697Asp) c.2119C>G (p.His707Asp) c.2110C>G (p.His704Asp) c.2080C>G (p.His694Asp) c.2023C>G (p.His675Asp) c.1969C>G (p.His657Asp) c.1762C>G (p.His588Asp) c.2176C>G (p.His726Asp) c.2170C>G (p.His724Asp) c.2167C>G (p.His723Asp) c.2227C>G (p.His743Asp) c.2218C>G (p.His740Asp) c.2137C>G (p.His713Asp) c.2086C>G (p.His696Asp) | |
| 14 | g.33800375C>T | CA389413769 | NPAS3 | c.2068C>T (p.His690Tyr) c.2077C>T (p.His693Tyr) c.1968C>T c.793+2794C>T c.1972C>T (p.His658Tyr) c.2029C>T (p.His677Tyr) c.1978C>T (p.His660Tyr) c.2083C>T (p.His695Tyr) c.1990C>T (p.His664Tyr) c.2089C>T (p.His697Tyr) c.2119C>T (p.His707Tyr) c.2110C>T (p.His704Tyr) c.2080C>T (p.His694Tyr) c.2023C>T (p.His675Tyr) c.1969C>T (p.His657Tyr) c.1762C>T (p.His588Tyr) c.2176C>T (p.His726Tyr) c.2170C>T (p.His724Tyr) c.2167C>T (p.His723Tyr) c.2227C>T (p.His743Tyr) c.2218C>T (p.His740Tyr) c.2137C>T (p.His713Tyr) c.2086C>T (p.His696Tyr) | |
| 14 | g.33800376A= | CA2128327327 | NPAS3 | c.2069A= (p.His690=) c.2078A= (p.His693=) c.1969A= c.793+2795A= c.1973A= (p.His658=) c.2030A= (p.His677=) c.1979A= (p.His660=) c.2084A= (p.His695=) c.1991A= (p.His664=) c.2090A= (p.His697=) c.2120A= (p.His707=) c.2111A= (p.His704=) c.2081A= (p.His694=) c.2024A= (p.His675=) c.1970A= (p.His657=) c.1763A= (p.His588=) c.2177A= (p.His726=) c.2171A= (p.His724=) c.2168A= (p.His723=) c.2228A= (p.His743=) c.2219A= (p.His740=) c.2138A= (p.His713=) c.2087A= (p.His696=) | |
| 14 | g.33800376A>C | CA389413771 | NPAS3 | c.2069A>C (p.His690Pro) c.2078A>C (p.His693Pro) c.1969A>C c.793+2795A>C c.1973A>C (p.His658Pro) c.2030A>C (p.His677Pro) c.1979A>C (p.His660Pro) c.2084A>C (p.His695Pro) c.1991A>C (p.His664Pro) c.2090A>C (p.His697Pro) c.2120A>C (p.His707Pro) c.2111A>C (p.His704Pro) c.2081A>C (p.His694Pro) c.2024A>C (p.His675Pro) c.1970A>C (p.His657Pro) c.1763A>C (p.His588Pro) c.2177A>C (p.His726Pro) c.2171A>C (p.His724Pro) c.2168A>C (p.His723Pro) c.2228A>C (p.His743Pro) c.2219A>C (p.His740Pro) c.2138A>C (p.His713Pro) c.2087A>C (p.His696Pro) | |
| 14 | g.33800376A>G | CA389413773 | NPAS3 | c.2069A>G (p.His690Arg) c.2078A>G (p.His693Arg) c.1969A>G c.793+2795A>G c.1973A>G (p.His658Arg) c.2030A>G (p.His677Arg) c.1979A>G (p.His660Arg) c.2084A>G (p.His695Arg) c.1991A>G (p.His664Arg) c.2090A>G (p.His697Arg) c.2120A>G (p.His707Arg) c.2111A>G (p.His704Arg) c.2081A>G (p.His694Arg) c.2024A>G (p.His675Arg) c.1970A>G (p.His657Arg) c.1763A>G (p.His588Arg) c.2177A>G (p.His726Arg) c.2171A>G (p.His724Arg) c.2168A>G (p.His723Arg) c.2228A>G (p.His743Arg) c.2219A>G (p.His740Arg) c.2138A>G (p.His713Arg) c.2087A>G (p.His696Arg) | dbSNP |
| 14 | g.33800376A>T | CA389413775 | NPAS3 | c.2069A>T (p.His690Leu) c.2078A>T (p.His693Leu) c.1969A>T c.793+2795A>T c.1973A>T (p.His658Leu) c.2030A>T (p.His677Leu) c.1979A>T (p.His660Leu) c.2084A>T (p.His695Leu) c.1991A>T (p.His664Leu) c.2090A>T (p.His697Leu) c.2120A>T (p.His707Leu) c.2111A>T (p.His704Leu) c.2081A>T (p.His694Leu) c.2024A>T (p.His675Leu) c.1970A>T (p.His657Leu) c.1763A>T (p.His588Leu) c.2177A>T (p.His726Leu) c.2171A>T (p.His724Leu) c.2168A>T (p.His723Leu) c.2228A>T (p.His743Leu) c.2219A>T (p.His740Leu) c.2138A>T (p.His713Leu) c.2087A>T (p.His696Leu) | |
| 14 | g.33800377C>A | CA7150929 | NPAS3 | c.2070C>A (p.His690Gln) c.2079C>A (p.His693Gln) c.1970C>A c.793+2796C>A c.1974C>A (p.His658Gln) c.2031C>A (p.His677Gln) c.1980C>A (p.His660Gln) c.2085C>A (p.His695Gln) c.1992C>A (p.His664Gln) c.2091C>A (p.His697Gln) c.2121C>A (p.His707Gln) c.2112C>A (p.His704Gln) c.2082C>A (p.His694Gln) c.2025C>A (p.His675Gln) c.1971C>A (p.His657Gln) c.1764C>A (p.His588Gln) c.2178C>A (p.His726Gln) c.2172C>A (p.His724Gln) c.2169C>A (p.His723Gln) c.2229C>A (p.His743Gln) c.2220C>A (p.His740Gln) c.2139C>A (p.His713Gln) c.2088C>A (p.His696Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800377C= | CA2128327332 | NPAS3 | c.2070C= (p.His690=) c.2079C= (p.His693=) c.1970C= c.793+2796C= c.1974C= (p.His658=) c.2031C= (p.His677=) c.1980C= (p.His660=) c.2085C= (p.His695=) c.1992C= (p.His664=) c.2091C= (p.His697=) c.2121C= (p.His707=) c.2112C= (p.His704=) c.2082C= (p.His694=) c.2025C= (p.His675=) c.1971C= (p.His657=) c.1764C= (p.His588=) c.2178C= (p.His726=) c.2172C= (p.His724=) c.2169C= (p.His723=) c.2229C= (p.His743=) c.2220C= (p.His740=) c.2139C= (p.His713=) c.2088C= (p.His696=) | |
| 14 | g.33800377C>G | CA389413780 | NPAS3 | c.2070C>G (p.His690Gln) c.2079C>G (p.His693Gln) c.1970C>G c.793+2796C>G c.1974C>G (p.His658Gln) c.2031C>G (p.His677Gln) c.1980C>G (p.His660Gln) c.2085C>G (p.His695Gln) c.1992C>G (p.His664Gln) c.2091C>G (p.His697Gln) c.2121C>G (p.His707Gln) c.2112C>G (p.His704Gln) c.2082C>G (p.His694Gln) c.2025C>G (p.His675Gln) c.1971C>G (p.His657Gln) c.1764C>G (p.His588Gln) c.2178C>G (p.His726Gln) c.2172C>G (p.His724Gln) c.2169C>G (p.His723Gln) c.2229C>G (p.His743Gln) c.2220C>G (p.His740Gln) c.2139C>G (p.His713Gln) c.2088C>G (p.His696Gln) | |
| 14 | g.33800377C>T | CA486093069 | NPAS3 | c.2070C>T (p.His690=) c.2079C>T (p.His693=) c.1970C>T c.793+2796C>T c.1974C>T (p.His658=) c.2031C>T (p.His677=) c.1980C>T (p.His660=) c.2085C>T (p.His695=) c.1992C>T (p.His664=) c.2091C>T (p.His697=) c.2121C>T (p.His707=) c.2112C>T (p.His704=) c.2082C>T (p.His694=) c.2025C>T (p.His675=) c.1971C>T (p.His657=) c.1764C>T (p.His588=) c.2178C>T (p.His726=) c.2172C>T (p.His724=) c.2169C>T (p.His723=) c.2229C>T (p.His743=) c.2220C>T (p.His740=) c.2139C>T (p.His713=) c.2088C>T (p.His696=) | |
| 14 | g.33800378T>A | CA389413784 | NPAS3 | c.2071T>A (p.Phe691Ile) c.2080T>A (p.Phe694Ile) c.1971T>A c.793+2797T>A c.1975T>A (p.Phe659Ile) c.2032T>A (p.Phe678Ile) c.1981T>A (p.Phe661Ile) c.2086T>A (p.Phe696Ile) c.1993T>A (p.Phe665Ile) c.2092T>A (p.Phe698Ile) c.2122T>A (p.Phe708Ile) c.2113T>A (p.Phe705Ile) c.2083T>A (p.Phe695Ile) c.2026T>A (p.Phe676Ile) c.1972T>A (p.Phe658Ile) c.1765T>A (p.Phe589Ile) c.2179T>A (p.Phe727Ile) c.2173T>A (p.Phe725Ile) c.2170T>A (p.Phe724Ile) c.2230T>A (p.Phe744Ile) c.2221T>A (p.Phe741Ile) c.2140T>A (p.Phe714Ile) c.2089T>A (p.Phe697Ile) | |
| 14 | g.33800378T>C | CA389413787 | NPAS3 | c.2071T>C (p.Phe691Leu) c.2080T>C (p.Phe694Leu) c.1971T>C c.793+2797T>C c.1975T>C (p.Phe659Leu) c.2032T>C (p.Phe678Leu) c.1981T>C (p.Phe661Leu) c.2086T>C (p.Phe696Leu) c.1993T>C (p.Phe665Leu) c.2092T>C (p.Phe698Leu) c.2122T>C (p.Phe708Leu) c.2113T>C (p.Phe705Leu) c.2083T>C (p.Phe695Leu) c.2026T>C (p.Phe676Leu) c.1972T>C (p.Phe658Leu) c.1765T>C (p.Phe589Leu) c.2179T>C (p.Phe727Leu) c.2173T>C (p.Phe725Leu) c.2170T>C (p.Phe724Leu) c.2230T>C (p.Phe744Leu) c.2221T>C (p.Phe741Leu) c.2140T>C (p.Phe714Leu) c.2089T>C (p.Phe697Leu) | |
| 14 | g.33800378T>G | CA389413785 | NPAS3 | c.2071T>G (p.Phe691Val) c.2080T>G (p.Phe694Val) c.1971T>G c.793+2797T>G c.1975T>G (p.Phe659Val) c.2032T>G (p.Phe678Val) c.1981T>G (p.Phe661Val) c.2086T>G (p.Phe696Val) c.1993T>G (p.Phe665Val) c.2092T>G (p.Phe698Val) c.2122T>G (p.Phe708Val) c.2113T>G (p.Phe705Val) c.2083T>G (p.Phe695Val) c.2026T>G (p.Phe676Val) c.1972T>G (p.Phe658Val) c.1765T>G (p.Phe589Val) c.2179T>G (p.Phe727Val) c.2173T>G (p.Phe725Val) c.2170T>G (p.Phe724Val) c.2230T>G (p.Phe744Val) c.2221T>G (p.Phe741Val) c.2140T>G (p.Phe714Val) c.2089T>G (p.Phe697Val) | |
| 14 | g.33800379T>A | CA389413790 | NPAS3 | c.2072T>A (p.Phe691Tyr) c.2081T>A (p.Phe694Tyr) c.1972T>A c.793+2798T>A c.1976T>A (p.Phe659Tyr) c.2033T>A (p.Phe678Tyr) c.1982T>A (p.Phe661Tyr) c.2087T>A (p.Phe696Tyr) c.1994T>A (p.Phe665Tyr) c.2093T>A (p.Phe698Tyr) c.2123T>A (p.Phe708Tyr) c.2114T>A (p.Phe705Tyr) c.2084T>A (p.Phe695Tyr) c.2027T>A (p.Phe676Tyr) c.1973T>A (p.Phe658Tyr) c.1766T>A (p.Phe589Tyr) c.2180T>A (p.Phe727Tyr) c.2174T>A (p.Phe725Tyr) c.2171T>A (p.Phe724Tyr) c.2231T>A (p.Phe744Tyr) c.2222T>A (p.Phe741Tyr) c.2141T>A (p.Phe714Tyr) c.2090T>A (p.Phe697Tyr) | |
| 14 | g.33800379T>C | CA389413792 | NPAS3 | c.2072T>C (p.Phe691Ser) c.2081T>C (p.Phe694Ser) c.1972T>C c.793+2798T>C c.1976T>C (p.Phe659Ser) c.2033T>C (p.Phe678Ser) c.1982T>C (p.Phe661Ser) c.2087T>C (p.Phe696Ser) c.1994T>C (p.Phe665Ser) c.2093T>C (p.Phe698Ser) c.2123T>C (p.Phe708Ser) c.2114T>C (p.Phe705Ser) c.2084T>C (p.Phe695Ser) c.2027T>C (p.Phe676Ser) c.1973T>C (p.Phe658Ser) c.1766T>C (p.Phe589Ser) c.2180T>C (p.Phe727Ser) c.2174T>C (p.Phe725Ser) c.2171T>C (p.Phe724Ser) c.2231T>C (p.Phe744Ser) c.2222T>C (p.Phe741Ser) c.2141T>C (p.Phe714Ser) c.2090T>C (p.Phe697Ser) | |
| 14 | g.33800379T>G | CA389413794 | NPAS3 | c.2072T>G (p.Phe691Cys) c.2081T>G (p.Phe694Cys) c.1972T>G c.793+2798T>G c.1976T>G (p.Phe659Cys) c.2033T>G (p.Phe678Cys) c.1982T>G (p.Phe661Cys) c.2087T>G (p.Phe696Cys) c.1994T>G (p.Phe665Cys) c.2093T>G (p.Phe698Cys) c.2123T>G (p.Phe708Cys) c.2114T>G (p.Phe705Cys) c.2084T>G (p.Phe695Cys) c.2027T>G (p.Phe676Cys) c.1973T>G (p.Phe658Cys) c.1766T>G (p.Phe589Cys) c.2180T>G (p.Phe727Cys) c.2174T>G (p.Phe725Cys) c.2171T>G (p.Phe724Cys) c.2231T>G (p.Phe744Cys) c.2222T>G (p.Phe741Cys) c.2141T>G (p.Phe714Cys) c.2090T>G (p.Phe697Cys) | gnomAD v4 |
| 14 | g.33800380C>A | CA389413796 | NPAS3 | c.2073C>A (p.Phe691Leu) c.2082C>A (p.Phe694Leu) c.1973C>A c.793+2799C>A c.1977C>A (p.Phe659Leu) c.2034C>A (p.Phe678Leu) c.1983C>A (p.Phe661Leu) c.2088C>A (p.Phe696Leu) c.1995C>A (p.Phe665Leu) c.2094C>A (p.Phe698Leu) c.2124C>A (p.Phe708Leu) c.2115C>A (p.Phe705Leu) c.2085C>A (p.Phe695Leu) c.2028C>A (p.Phe676Leu) c.1974C>A (p.Phe658Leu) c.1767C>A (p.Phe589Leu) c.2181C>A (p.Phe727Leu) c.2175C>A (p.Phe725Leu) c.2172C>A (p.Phe724Leu) c.2232C>A (p.Phe744Leu) c.2223C>A (p.Phe741Leu) c.2142C>A (p.Phe714Leu) c.2091C>A (p.Phe697Leu) | gnomAD v4 |
| 14 | g.33800380C>G | CA389413798 | NPAS3 | c.2073C>G (p.Phe691Leu) c.2082C>G (p.Phe694Leu) c.1973C>G c.793+2799C>G c.1977C>G (p.Phe659Leu) c.2034C>G (p.Phe678Leu) c.1983C>G (p.Phe661Leu) c.2088C>G (p.Phe696Leu) c.1995C>G (p.Phe665Leu) c.2094C>G (p.Phe698Leu) c.2124C>G (p.Phe708Leu) c.2115C>G (p.Phe705Leu) c.2085C>G (p.Phe695Leu) c.2028C>G (p.Phe676Leu) c.1974C>G (p.Phe658Leu) c.1767C>G (p.Phe589Leu) c.2181C>G (p.Phe727Leu) c.2175C>G (p.Phe725Leu) c.2172C>G (p.Phe724Leu) c.2232C>G (p.Phe744Leu) c.2223C>G (p.Phe741Leu) c.2142C>G (p.Phe714Leu) c.2091C>G (p.Phe697Leu) | |
| 14 | g.33800380C>T | CA486093073 | NPAS3 | c.2073C>T (p.Phe691=) c.2082C>T (p.Phe694=) c.1973C>T c.793+2799C>T c.1977C>T (p.Phe659=) c.2034C>T (p.Phe678=) c.1983C>T (p.Phe661=) c.2088C>T (p.Phe696=) c.1995C>T (p.Phe665=) c.2094C>T (p.Phe698=) c.2124C>T (p.Phe708=) c.2115C>T (p.Phe705=) c.2085C>T (p.Phe695=) c.2028C>T (p.Phe676=) c.1974C>T (p.Phe658=) c.1767C>T (p.Phe589=) c.2181C>T (p.Phe727=) c.2175C>T (p.Phe725=) c.2172C>T (p.Phe724=) c.2232C>T (p.Phe744=) c.2223C>T (p.Phe741=) c.2142C>T (p.Phe714=) c.2091C>T (p.Phe697=) | gnomAD v4 |
| 14 | g.33800381C>A | CA7150930 | NPAS3 | c.2074C>A (p.Pro692Thr) c.2083C>A (p.Pro695Thr) c.1974C>A c.793+2800C>A c.1978C>A (p.Pro660Thr) c.2035C>A (p.Pro679Thr) c.1984C>A (p.Pro662Thr) c.2089C>A (p.Pro697Thr) c.1996C>A (p.Pro666Thr) c.2095C>A (p.Pro699Thr) c.2125C>A (p.Pro709Thr) c.2116C>A (p.Pro706Thr) c.2086C>A (p.Pro696Thr) c.2029C>A (p.Pro677Thr) c.1975C>A (p.Pro659Thr) c.1768C>A (p.Pro590Thr) c.2182C>A (p.Pro728Thr) c.2176C>A (p.Pro726Thr) c.2173C>A (p.Pro725Thr) c.2233C>A (p.Pro745Thr) c.2224C>A (p.Pro742Thr) c.2143C>A (p.Pro715Thr) c.2092C>A (p.Pro698Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800381C= | CA2128327338 | NPAS3 | c.2074C= (p.Pro692=) c.2083C= (p.Pro695=) c.1974C= c.793+2800C= c.1978C= (p.Pro660=) c.2035C= (p.Pro679=) c.1984C= (p.Pro662=) c.2089C= (p.Pro697=) c.1996C= (p.Pro666=) c.2095C= (p.Pro699=) c.2125C= (p.Pro709=) c.2116C= (p.Pro706=) c.2086C= (p.Pro696=) c.2029C= (p.Pro677=) c.1975C= (p.Pro659=) c.1768C= (p.Pro590=) c.2182C= (p.Pro728=) c.2176C= (p.Pro726=) c.2173C= (p.Pro725=) c.2233C= (p.Pro745=) c.2224C= (p.Pro742=) c.2143C= (p.Pro715=) c.2092C= (p.Pro698=) | |
| 14 | g.33800381C>G | CA389413801 | NPAS3 | c.2074C>G (p.Pro692Ala) c.2083C>G (p.Pro695Ala) c.1974C>G c.793+2800C>G c.1978C>G (p.Pro660Ala) c.2035C>G (p.Pro679Ala) c.1984C>G (p.Pro662Ala) c.2089C>G (p.Pro697Ala) c.1996C>G (p.Pro666Ala) c.2095C>G (p.Pro699Ala) c.2125C>G (p.Pro709Ala) c.2116C>G (p.Pro706Ala) c.2086C>G (p.Pro696Ala) c.2029C>G (p.Pro677Ala) c.1975C>G (p.Pro659Ala) c.1768C>G (p.Pro590Ala) c.2182C>G (p.Pro728Ala) c.2176C>G (p.Pro726Ala) c.2173C>G (p.Pro725Ala) c.2233C>G (p.Pro745Ala) c.2224C>G (p.Pro742Ala) c.2143C>G (p.Pro715Ala) c.2092C>G (p.Pro698Ala) | gnomAD v4 |
| 14 | g.33800381C>T | CA389413803 | NPAS3 | c.2074C>T (p.Pro692Ser) c.2083C>T (p.Pro695Ser) c.1974C>T c.793+2800C>T c.1978C>T (p.Pro660Ser) c.2035C>T (p.Pro679Ser) c.1984C>T (p.Pro662Ser) c.2089C>T (p.Pro697Ser) c.1996C>T (p.Pro666Ser) c.2095C>T (p.Pro699Ser) c.2125C>T (p.Pro709Ser) c.2116C>T (p.Pro706Ser) c.2086C>T (p.Pro696Ser) c.2029C>T (p.Pro677Ser) c.1975C>T (p.Pro659Ser) c.1768C>T (p.Pro590Ser) c.2182C>T (p.Pro728Ser) c.2176C>T (p.Pro726Ser) c.2173C>T (p.Pro725Ser) c.2233C>T (p.Pro745Ser) c.2224C>T (p.Pro742Ser) c.2143C>T (p.Pro715Ser) c.2092C>T (p.Pro698Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800382C>A | CA389413805 | NPAS3 | c.2075C>A (p.Pro692Gln) c.2084C>A (p.Pro695Gln) c.1975C>A c.793+2801C>A c.1979C>A (p.Pro660Gln) c.2036C>A (p.Pro679Gln) c.1985C>A (p.Pro662Gln) c.2090C>A (p.Pro697Gln) c.1997C>A (p.Pro666Gln) c.2096C>A (p.Pro699Gln) c.2126C>A (p.Pro709Gln) c.2117C>A (p.Pro706Gln) c.2087C>A (p.Pro696Gln) c.2030C>A (p.Pro677Gln) c.1976C>A (p.Pro659Gln) c.1769C>A (p.Pro590Gln) c.2183C>A (p.Pro728Gln) c.2177C>A (p.Pro726Gln) c.2174C>A (p.Pro725Gln) c.2234C>A (p.Pro745Gln) c.2225C>A (p.Pro742Gln) c.2144C>A (p.Pro715Gln) c.2093C>A (p.Pro698Gln) | |
| 14 | g.33800382C= | CA2128327341 | NPAS3 | c.2075C= (p.Pro692=) c.2084C= (p.Pro695=) c.1975C= c.793+2801C= c.1979C= (p.Pro660=) c.2036C= (p.Pro679=) c.1985C= (p.Pro662=) c.2090C= (p.Pro697=) c.1997C= (p.Pro666=) c.2096C= (p.Pro699=) c.2126C= (p.Pro709=) c.2117C= (p.Pro706=) c.2087C= (p.Pro696=) c.2030C= (p.Pro677=) c.1976C= (p.Pro659=) c.1769C= (p.Pro590=) c.2183C= (p.Pro728=) c.2177C= (p.Pro726=) c.2174C= (p.Pro725=) c.2234C= (p.Pro745=) c.2225C= (p.Pro742=) c.2144C= (p.Pro715=) c.2093C= (p.Pro698=) | |
| 14 | g.33800382C>G | CA7150932 | NPAS3 | c.2075C>G (p.Pro692Arg) c.2084C>G (p.Pro695Arg) c.1975C>G c.793+2801C>G c.1979C>G (p.Pro660Arg) c.2036C>G (p.Pro679Arg) c.1985C>G (p.Pro662Arg) c.2090C>G (p.Pro697Arg) c.1997C>G (p.Pro666Arg) c.2096C>G (p.Pro699Arg) c.2126C>G (p.Pro709Arg) c.2117C>G (p.Pro706Arg) c.2087C>G (p.Pro696Arg) c.2030C>G (p.Pro677Arg) c.1976C>G (p.Pro659Arg) c.1769C>G (p.Pro590Arg) c.2183C>G (p.Pro728Arg) c.2177C>G (p.Pro726Arg) c.2174C>G (p.Pro725Arg) c.2234C>G (p.Pro745Arg) c.2225C>G (p.Pro742Arg) c.2144C>G (p.Pro715Arg) c.2093C>G (p.Pro698Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.33800382C>T | CA7150931 | NPAS3 | c.2075C>T (p.Pro692Leu) c.2084C>T (p.Pro695Leu) c.1975C>T c.793+2801C>T c.1979C>T (p.Pro660Leu) c.2036C>T (p.Pro679Leu) c.1985C>T (p.Pro662Leu) c.2090C>T (p.Pro697Leu) c.1997C>T (p.Pro666Leu) c.2096C>T (p.Pro699Leu) c.2126C>T (p.Pro709Leu) c.2117C>T (p.Pro706Leu) c.2087C>T (p.Pro696Leu) c.2030C>T (p.Pro677Leu) c.1976C>T (p.Pro659Leu) c.1769C>T (p.Pro590Leu) c.2183C>T (p.Pro728Leu) c.2177C>T (p.Pro726Leu) c.2174C>T (p.Pro725Leu) c.2234C>T (p.Pro745Leu) c.2225C>T (p.Pro742Leu) c.2144C>T (p.Pro715Leu) c.2093C>T (p.Pro698Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |