Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.47936579T>A | CA356823208 | CNGA1,NIPAL1 | c.1903A>T (p.Thr635Ser) c.1915A>T (p.Thr639Ser) c.2122A>T (p.Thr708Ser) n.478+21875T>A n.563+21875T>A c.2140A>T (p.Thr714Ser) | |
4 | g.47936579T>C | CA356823209 | CNGA1,NIPAL1 | c.1903A>G (p.Thr635Ala) c.1915A>G (p.Thr639Ala) c.2122A>G (p.Thr708Ala) n.478+21875T>C n.563+21875T>C c.2140A>G (p.Thr714Ala) | |
4 | g.47936579T>G | CA356823210 | CNGA1,NIPAL1 | c.1903A>C (p.Thr635Pro) c.1915A>C (p.Thr639Pro) c.2122A>C (p.Thr708Pro) n.478+21875T>G n.563+21875T>G c.2140A>C (p.Thr714Pro) | |
4 | g.47936580T>A | CA356823213 | CNGA1,NIPAL1 | c.1902A>T (p.Gln634His) c.1914A>T (p.Gln638His) c.2121A>T (p.Gln707His) n.478+21876T>A n.563+21876T>A c.2139A>T (p.Gln713His) | |
4 | g.47936580T>C | CA439248226 | CNGA1,NIPAL1 | c.1902A>G (p.Gln634=) c.1914A>G (p.Gln638=) c.2121A>G (p.Gln707=) n.478+21876T>C n.563+21876T>C c.2139A>G (p.Gln713=) | |
4 | g.47936580T>G | CA356823215 | CNGA1,NIPAL1 | c.1902A>C (p.Gln634His) c.1914A>C (p.Gln638His) c.2121A>C (p.Gln707His) n.478+21876T>G n.563+21876T>G c.2139A>C (p.Gln713His) | gnomAD v4 |
4 | g.47936581T>A | CA356823217 | CNGA1,NIPAL1 | c.1901A>T (p.Gln634Leu) c.1913A>T (p.Gln638Leu) c.2120A>T (p.Gln707Leu) n.478+21877T>A n.563+21877T>A c.2138A>T (p.Gln713Leu) | |
4 | g.47936581T>C | CA356823221 | CNGA1,NIPAL1 | c.1901A>G (p.Gln634Arg) c.1913A>G (p.Gln638Arg) c.2120A>G (p.Gln707Arg) n.478+21877T>C n.563+21877T>C c.2138A>G (p.Gln713Arg) | |
4 | g.47936581T>G | CA356823219 | CNGA1,NIPAL1 | c.1901A>C (p.Gln634Pro) c.1913A>C (p.Gln638Pro) c.2120A>C (p.Gln707Pro) n.478+21877T>G n.563+21877T>G c.2138A>C (p.Gln713Pro) | |
4 | g.47936582G>A | CA356823223 | CNGA1,NIPAL1 | c.1900C>T (p.Gln634Ter) c.1912C>T (p.Gln638Ter) c.2119C>T (p.Gln707Ter) n.478+21878G>A n.563+21878G>A c.2137C>T (p.Gln713Ter) | |
4 | g.47936582G>C | CA356823225 | CNGA1,NIPAL1 | c.1900C>G (p.Gln634Glu) c.1912C>G (p.Gln638Glu) c.2119C>G (p.Gln707Glu) n.478+21878G>C n.563+21878G>C c.2137C>G (p.Gln713Glu) | |
4 | g.47936582G>T | CA356823226 | CNGA1,NIPAL1 | c.1900C>A (p.Gln634Lys) c.1912C>A (p.Gln638Lys) c.2119C>A (p.Gln707Lys) n.478+21878G>T n.563+21878G>T c.2137C>A (p.Gln713Lys) | |
4 | g.47936583C>A | CA439248231 | CNGA1,NIPAL1 | c.1899G>T (p.Leu633=) c.1911G>T (p.Leu637=) c.2118G>T (p.Leu706=) n.478+21879C>A n.563+21879C>A c.2136G>T (p.Leu712=) | |
4 | g.47936583C>G | CA439248233 | CNGA1,NIPAL1 | c.1899G>C (p.Leu633=) c.1911G>C (p.Leu637=) c.2118G>C (p.Leu706=) n.478+21879C>G n.563+21879C>G c.2136G>C (p.Leu712=) | |
4 | g.47936583C>T | CA439248234 | CNGA1,NIPAL1 | c.1899G>A (p.Leu633=) c.1911G>A (p.Leu637=) c.2118G>A (p.Leu706=) n.478+21879C>T n.563+21879C>T c.2136G>A (p.Leu712=) | gnomAD v4 |
4 | g.47936584A= | CA1455551632 | CNGA1,NIPAL1 | c.1898T= (p.Leu633=) c.1910T= (p.Leu637=) c.2117T= (p.Leu706=) n.478+21880A= n.563+21880A= c.2135T= (p.Leu712=) | |
4 | g.47936584A>C | CA2910998 | CNGA1,NIPAL1 | c.1898T>G (p.Leu633Arg) c.1910T>G (p.Leu637Arg) c.2117T>G (p.Leu706Arg) n.478+21880A>C n.563+21880A>C c.2135T>G (p.Leu712Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936584A>G | CA356823227 | CNGA1,NIPAL1 | c.1898T>C (p.Leu633Pro) c.1910T>C (p.Leu637Pro) c.2117T>C (p.Leu706Pro) n.478+21880A>G n.563+21880A>G c.2135T>C (p.Leu712Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936584A>T | CA356823228 | CNGA1,NIPAL1 | c.1898T>A (p.Leu633Gln) c.1910T>A (p.Leu637Gln) c.2117T>A (p.Leu706Gln) n.478+21880A>T n.563+21880A>T c.2135T>A (p.Leu712Gln) | |
4 | g.47936587_47936589del | CA2670552339 | CNGA1,NIPAL1 | c.1896_1898del (p.Leu633del) c.1908_1910del (p.Leu637del) c.2115_2117del (p.Leu706del) n.478+21883_478+21885del n.563+21883_563+21885del c.2133_2135del (p.Leu712del) | gnomAD v4 |
4 | g.47936585G>A | CA439248236 | CNGA1,NIPAL1 | c.1897C>T (p.Leu633=) c.1909C>T (p.Leu637=) c.2116C>T (p.Leu706=) n.478+21881G>A n.563+21881G>A c.2134C>T (p.Leu712=) | |
4 | g.47936585G>C | CA356823229 | CNGA1,NIPAL1 | c.1897C>G (p.Leu633Val) c.1909C>G (p.Leu637Val) c.2116C>G (p.Leu706Val) n.478+21881G>C n.563+21881G>C c.2134C>G (p.Leu712Val) | |
4 | g.47936585G>T | CA356823230 | CNGA1,NIPAL1 | c.1897C>A (p.Leu633Met) c.1909C>A (p.Leu637Met) c.2116C>A (p.Leu706Met) n.478+21881G>T n.563+21881G>T c.2134C>A (p.Leu712Met) | |
4 | g.47936586G>A | CA439248237 | CNGA1,NIPAL1 | c.1896C>T (p.Leu632=) c.1908C>T (p.Leu636=) c.2115C>T (p.Leu705=) n.478+21882G>A n.563+21882G>A c.2133C>T (p.Leu711=) | |
4 | g.47936586G>C | CA439248240 | CNGA1,NIPAL1 | c.1896C>G (p.Leu632=) c.1908C>G (p.Leu636=) c.2115C>G (p.Leu705=) n.478+21882G>C n.563+21882G>C c.2133C>G (p.Leu711=) | |
4 | g.47936586G= | CA1455551633 | CNGA1,NIPAL1 | c.1896C= (p.Leu632=) c.1908C= (p.Leu636=) c.2115C= (p.Leu705=) n.478+21882G= n.563+21882G= c.2133C= (p.Leu711=) | |
4 | g.47936586G>T | CA439248238 | CNGA1,NIPAL1 | c.1896C>A (p.Leu632=) c.1908C>A (p.Leu636=) c.2115C>A (p.Leu705=) n.478+21882G>T n.563+21882G>T c.2133C>A (p.Leu711=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47936587del | CA2670552340 | CNGA1,NIPAL1 | c.1895del (p.Leu632ProfsTer20) c.1907del (p.Leu636ProfsTer20) c.2114del (p.Leu705ProfsTer20) n.478+21883del n.563+21883del c.2132del (p.Leu711ProfsTer20) | gnomAD v4 |
4 | g.47936587A>C | CA356823231 | CNGA1,NIPAL1 | c.1895T>G (p.Leu632Arg) c.1907T>G (p.Leu636Arg) c.2114T>G (p.Leu705Arg) n.478+21883A>C n.563+21883A>C c.2132T>G (p.Leu711Arg) | |
4 | g.47936587A>G | CA356823232 | CNGA1,NIPAL1 | c.1895T>C (p.Leu632Pro) c.1907T>C (p.Leu636Pro) c.2114T>C (p.Leu705Pro) n.478+21883A>G n.563+21883A>G c.2132T>C (p.Leu711Pro) | |
4 | g.47936587A>T | CA356823234 | CNGA1,NIPAL1 | c.1895T>A (p.Leu632His) c.1907T>A (p.Leu636His) c.2114T>A (p.Leu705His) n.478+21883A>T n.563+21883A>T c.2132T>A (p.Leu711His) | |
4 | g.47936588G>A | CA356823236 | CNGA1,NIPAL1 | c.1894C>T (p.Leu632Phe) c.1906C>T (p.Leu636Phe) c.2113C>T (p.Leu705Phe) n.478+21884G>A n.563+21884G>A c.2131C>T (p.Leu711Phe) | |
4 | g.47936588G>C | CA356823239 | CNGA1,NIPAL1 | c.1894C>G (p.Leu632Val) c.1906C>G (p.Leu636Val) c.2113C>G (p.Leu705Val) n.478+21884G>C n.563+21884G>C c.2131C>G (p.Leu711Val) | |
4 | g.47936588G= | CA1455551634 | CNGA1,NIPAL1 | c.1894C= (p.Leu632=) c.1906C= (p.Leu636=) c.2113C= (p.Leu705=) n.478+21884G= n.563+21884G= c.2131C= (p.Leu711=) | |
4 | g.47936588G>T | CA2910999 | CNGA1,NIPAL1 | c.1894C>A (p.Leu632Ile) c.1906C>A (p.Leu636Ile) c.2113C>A (p.Leu705Ile) n.478+21884G>T n.563+21884G>T c.2131C>A (p.Leu711Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936589G>A | CA439248244 | CNGA1,NIPAL1 | c.1893C>T (p.Asp631=) c.1905C>T (p.Asp635=) c.2112C>T (p.Asp704=) n.478+21885G>A n.563+21885G>A c.2130C>T (p.Asp710=) | |
4 | g.47936589G>C | CA356823241 | CNGA1,NIPAL1 | c.1893C>G (p.Asp631Glu) c.1905C>G (p.Asp635Glu) c.2112C>G (p.Asp704Glu) n.478+21885G>C n.563+21885G>C c.2130C>G (p.Asp710Glu) | dbSNP gnomAD v4 |
4 | g.47936589G= | CA1455551635 | CNGA1,NIPAL1 | c.1893C= (p.Asp631=) c.1905C= (p.Asp635=) c.2112C= (p.Asp704=) n.478+21885G= n.563+21885G= c.2130C= (p.Asp710=) | |
4 | g.47936589G>T | CA356823243 | CNGA1,NIPAL1 | c.1893C>A (p.Asp631Glu) c.1905C>A (p.Asp635Glu) c.2112C>A (p.Asp704Glu) n.478+21885G>T n.563+21885G>T c.2130C>A (p.Asp710Glu) | dbSNP |
4 | g.47936590T>A | CA356823245 | CNGA1,NIPAL1 | c.1892A>T (p.Asp631Val) c.1904A>T (p.Asp635Val) c.2111A>T (p.Asp704Val) n.478+21886T>A n.563+21886T>A c.2129A>T (p.Asp710Val) | |
4 | g.47936590T>C | CA2911000 | CNGA1,NIPAL1 | c.1892A>G (p.Asp631Gly) c.1904A>G (p.Asp635Gly) c.2111A>G (p.Asp704Gly) n.478+21886T>C n.563+21886T>C c.2129A>G (p.Asp710Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936590T>G | CA356823248 | CNGA1,NIPAL1 | c.1892A>C (p.Asp631Ala) c.1904A>C (p.Asp635Ala) c.2111A>C (p.Asp704Ala) n.478+21886T>G n.563+21886T>G c.2129A>C (p.Asp710Ala) | |
4 | g.47936590T= | CA1455551636 | CNGA1,NIPAL1 | c.1892A= (p.Asp631=) c.1904A= (p.Asp635=) c.2111A= (p.Asp704=) n.478+21886T= n.563+21886T= c.2129A= (p.Asp710=) | |
4 | g.47936591C>A | CA356823250 | CNGA1,NIPAL1 | c.1891G>T (p.Asp631Tyr) c.1903G>T (p.Asp635Tyr) c.2110G>T (p.Asp704Tyr) n.478+21887C>A n.563+21887C>A c.2128G>T (p.Asp710Tyr) | ClinVar dbSNP gnomAD v4 |
4 | g.47936591C= | CA1455551637 | CNGA1,NIPAL1 | c.1891G= (p.Asp631=) c.1903G= (p.Asp635=) c.2110G= (p.Asp704=) n.478+21887C= n.563+21887C= c.2128G= (p.Asp710=) | |
4 | g.47936591C>G | CA356823253 | CNGA1,NIPAL1 | c.1891G>C (p.Asp631His) c.1903G>C (p.Asp635His) c.2110G>C (p.Asp704His) n.478+21887C>G n.563+21887C>G c.2128G>C (p.Asp710His) | |
4 | g.47936591C>T | CA356823254 | CNGA1,NIPAL1 | c.1891G>A (p.Asp631Asn) c.1903G>A (p.Asp635Asn) c.2110G>A (p.Asp704Asn) n.478+21887C>T n.563+21887C>T c.2128G>A (p.Asp710Asn) | gnomAD v4 |
4 | g.47936592T>A | CA439248247 | CNGA1,NIPAL1 | c.1890A>T (p.Val630=) c.1902A>T (p.Val634=) c.2109A>T (p.Val703=) n.478+21888T>A n.563+21888T>A c.2127A>T (p.Val709=) | |
4 | g.47936592T>C | CA439248248 | CNGA1,NIPAL1 | c.1890A>G (p.Val630=) c.1902A>G (p.Val634=) c.2109A>G (p.Val703=) n.478+21888T>C n.563+21888T>C c.2127A>G (p.Val709=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936592T>G | CA439248249 | CNGA1,NIPAL1 | c.1890A>C (p.Val630=) c.1902A>C (p.Val634=) c.2109A>C (p.Val703=) n.478+21888T>G n.563+21888T>G c.2127A>C (p.Val709=) | |
4 | g.47936592T= | CA1455551638 | CNGA1,NIPAL1 | c.1890A= (p.Val630=) c.1902A= (p.Val634=) c.2109A= (p.Val703=) n.478+21888T= n.563+21888T= c.2127A= (p.Val709=) | |
4 | g.47936593A= | CA1455551639 | CNGA1,NIPAL1 | c.1889T= (p.Val630=) c.1901T= (p.Val634=) c.2108T= (p.Val703=) n.478+21889A= n.563+21889A= c.2126T= (p.Val709=) | |
4 | g.47936593A>C | CA2911001 | CNGA1,NIPAL1 | c.1889T>G (p.Val630Gly) c.1901T>G (p.Val634Gly) c.2108T>G (p.Val703Gly) n.478+21889A>C n.563+21889A>C c.2126T>G (p.Val709Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936593A>G | CA356823258 | CNGA1,NIPAL1 | c.1889T>C (p.Val630Ala) c.1901T>C (p.Val634Ala) c.2108T>C (p.Val703Ala) n.478+21889A>G n.563+21889A>G c.2126T>C (p.Val709Ala) | |
4 | g.47936593A>T | CA356823260 | CNGA1,NIPAL1 | c.1889T>A (p.Val630Glu) c.1901T>A (p.Val634Glu) c.2108T>A (p.Val703Glu) n.478+21889A>T n.563+21889A>T c.2126T>A (p.Val709Glu) | |
4 | g.47936594C>A | CA356823266 | CNGA1,NIPAL1 | c.1888G>T (p.Val630Leu) c.1900G>T (p.Val634Leu) c.2107G>T (p.Val703Leu) n.478+21890C>A n.563+21890C>A c.2125G>T (p.Val709Leu) | |
4 | g.47936594C>G | CA356823264 | CNGA1,NIPAL1 | c.1888G>C (p.Val630Leu) c.1900G>C (p.Val634Leu) c.2107G>C (p.Val703Leu) n.478+21890C>G n.563+21890C>G c.2125G>C (p.Val709Leu) | |
4 | g.47936594C>T | CA356823262 | CNGA1,NIPAL1 | c.1888G>A (p.Val630Ile) c.1900G>A (p.Val634Ile) c.2107G>A (p.Val703Ile) n.478+21890C>T n.563+21890C>T c.2125G>A (p.Val709Ile) | |
4 | g.47936595T>A | CA439248253 | CNGA1,NIPAL1 | c.1887A>T (p.Ser629=) c.1899A>T (p.Ser633=) c.2106A>T (p.Ser702=) n.478+21891T>A n.563+21891T>A c.2124A>T (p.Ser708=) | |
4 | g.47936595T>C | CA439248251 | CNGA1,NIPAL1 | c.1887A>G (p.Ser629=) c.1899A>G (p.Ser633=) c.2106A>G (p.Ser702=) n.478+21891T>C n.563+21891T>C c.2124A>G (p.Ser708=) | |
4 | g.47936595T>G | CA439248252 | CNGA1,NIPAL1 | c.1887A>C (p.Ser629=) c.1899A>C (p.Ser633=) c.2106A>C (p.Ser702=) n.478+21891T>G n.563+21891T>G c.2124A>C (p.Ser708=) | |
4 | g.47936595dup | CA2670552341 | CNGA1,NIPAL1 | c.1887dup (p.Val630SerfsTer14) c.1899dup (p.Val634SerfsTer14) c.2106dup (p.Val703SerfsTer14) n.478+21891dup n.563+21891dup c.2124dup (p.Val709SerfsTer14) | gnomAD v4 |
4 | g.47936596G>A | CA356823269 | CNGA1,NIPAL1 | c.1886C>T (p.Ser629Leu) c.1898C>T (p.Ser633Leu) c.2105C>T (p.Ser702Leu) n.478+21892G>A n.563+21892G>A c.2123C>T (p.Ser708Leu) | |
4 | g.47936596G>C | CA356823271 | CNGA1,NIPAL1 | c.1886C>G (p.Ser629Ter) c.1898C>G (p.Ser633Ter) c.2105C>G (p.Ser702Ter) n.478+21892G>C n.563+21892G>C c.2123C>G (p.Ser708Ter) | |
4 | g.47936596G>T | CA356823273 | CNGA1,NIPAL1 | c.1886C>A (p.Ser629Ter) c.1898C>A (p.Ser633Ter) c.2105C>A (p.Ser702Ter) n.478+21892G>T n.563+21892G>T c.2123C>A (p.Ser708Ter) | COSMIC |
4 | g.47936597A>C | CA356823276 | CNGA1,NIPAL1 | c.1885T>G (p.Ser629Ala) c.1897T>G (p.Ser633Ala) c.2104T>G (p.Ser702Ala) n.478+21893A>C n.563+21893A>C c.2122T>G (p.Ser708Ala) | |
4 | g.47936597A>G | CA356823277 | CNGA1,NIPAL1 | c.1885T>C (p.Ser629Pro) c.1897T>C (p.Ser633Pro) c.2104T>C (p.Ser702Pro) n.478+21893A>G n.563+21893A>G c.2122T>C (p.Ser708Pro) | |
4 | g.47936597A>T | CA356823279 | CNGA1,NIPAL1 | c.1885T>A (p.Ser629Thr) c.1897T>A (p.Ser633Thr) c.2104T>A (p.Ser702Thr) n.478+21893A>T n.563+21893A>T c.2122T>A (p.Ser708Thr) | |
4 | g.47936598C>A | CA439248254 | CNGA1,NIPAL1 | c.1884G>T (p.Gly628=) c.1896G>T (p.Gly632=) c.2103G>T (p.Gly701=) n.478+21894C>A n.563+21894C>A c.2121G>T (p.Gly707=) | gnomAD v4 |
4 | g.47936598C>G | CA439248255 | CNGA1,NIPAL1 | c.1884G>C (p.Gly628=) c.1896G>C (p.Gly632=) c.2103G>C (p.Gly701=) n.478+21894C>G n.563+21894C>G c.2121G>C (p.Gly707=) | |
4 | g.47936598C>T | CA439248256 | CNGA1,NIPAL1 | c.1884G>A (p.Gly628=) c.1896G>A (p.Gly632=) c.2103G>A (p.Gly701=) n.478+21894C>T n.563+21894C>T c.2121G>A (p.Gly707=) | |
4 | g.47936600_47936601del | CA2670552342 | CNGA1,NIPAL1 | c.1883_1884del (p.Gly628ValfsTer15) c.1895_1896del (p.Gly632ValfsTer15) c.2102_2103del (p.Gly701ValfsTer15) n.478+21896_478+21897del n.563+21896_563+21897del c.2120_2121del (p.Gly707ValfsTer15) | gnomAD v4 |
4 | g.47936599C>A | CA356823282 | CNGA1,NIPAL1 | c.1883G>T (p.Gly628Val) c.1895G>T (p.Gly632Val) c.2102G>T (p.Gly701Val) n.478+21895C>A n.563+21895C>A c.2120G>T (p.Gly707Val) | |
4 | g.47936599C>G | CA356823284 | CNGA1,NIPAL1 | c.1883G>C (p.Gly628Ala) c.1895G>C (p.Gly632Ala) c.2102G>C (p.Gly701Ala) n.478+21895C>G n.563+21895C>G c.2120G>C (p.Gly707Ala) | gnomAD v4 |
4 | g.47936599C>T | CA356823286 | CNGA1,NIPAL1 | c.1883G>A (p.Gly628Glu) c.1895G>A (p.Gly632Glu) c.2102G>A (p.Gly701Glu) n.478+21895C>T n.563+21895C>T c.2120G>A (p.Gly707Glu) | COSMIC |
4 | g.47936600C>A | CA356823288 | CNGA1,NIPAL1 | c.1882G>T (p.Gly628Trp) c.1894G>T (p.Gly632Trp) c.2101G>T (p.Gly701Trp) n.478+21896C>A n.563+21896C>A c.2119G>T (p.Gly707Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936600C= | CA1455551640 | CNGA1,NIPAL1 | c.1882G= (p.Gly628=) c.1894G= (p.Gly632=) c.2101G= (p.Gly701=) n.478+21896C= n.563+21896C= c.2119G= (p.Gly707=) | |
4 | g.47936600C>G | CA356823291 | CNGA1,NIPAL1 | c.1882G>C (p.Gly628Arg) c.1894G>C (p.Gly632Arg) c.2101G>C (p.Gly701Arg) n.478+21896C>G n.563+21896C>G c.2119G>C (p.Gly707Arg) | |
4 | g.47936600C>T | CA356823293 | CNGA1,NIPAL1 | c.1882G>A (p.Gly628Arg) c.1894G>A (p.Gly632Arg) c.2101G>A (p.Gly701Arg) n.478+21896C>T n.563+21896C>T c.2119G>A (p.Gly707Arg) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47936601C>A | CA356823299 | CNGA1,NIPAL1 | c.1881G>T (p.Glu627Asp) c.1893G>T (p.Glu631Asp) c.2100G>T (p.Glu700Asp) n.478+21897C>A n.563+21897C>A c.2118G>T (p.Glu706Asp) | |
4 | g.47936601C= | CA1455551641 | CNGA1,NIPAL1 | c.1881G= (p.Glu627=) c.1893G= (p.Glu631=) c.2100G= (p.Glu700=) n.478+21897C= n.563+21897C= c.2118G= (p.Glu706=) | |
4 | g.47936601C>G | CA356823297 | CNGA1,NIPAL1 | c.1881G>C (p.Glu627Asp) c.1893G>C (p.Glu631Asp) c.2100G>C (p.Glu700Asp) n.478+21897C>G n.563+21897C>G c.2118G>C (p.Glu706Asp) | |
4 | g.47936601C>T | CA96687982 | CNGA1,NIPAL1 | c.1881G>A (p.Glu627=) c.1893G>A (p.Glu631=) c.2100G>A (p.Glu700=) n.478+21897C>T n.563+21897C>T c.2118G>A (p.Glu706=) | dbSNP |
4 | g.47936602_47936603dup | CA2670552343 | CNGA1,NIPAL1 | c.1880_1881dup (p.Gly628ArgfsTer4) c.1892_1893dup (p.Gly632ArgfsTer4) c.2099_2100dup (p.Gly701ArgfsTer4) n.478+21898_478+21899dup n.563+21898_563+21899dup c.2117_2118dup (p.Gly707ArgfsTer4) | gnomAD v4 |
4 | g.47936602T>A | CA356823301 | CNGA1,NIPAL1 | c.1880A>T (p.Glu627Val) c.1892A>T (p.Glu631Val) c.2099A>T (p.Glu700Val) n.478+21898T>A n.563+21898T>A c.2117A>T (p.Glu706Val) | |
4 | g.47936602T>C | CA356823306 | CNGA1,NIPAL1 | c.1880A>G (p.Glu627Gly) c.1892A>G (p.Glu631Gly) c.2099A>G (p.Glu700Gly) n.478+21898T>C n.563+21898T>C c.2117A>G (p.Glu706Gly) | |
4 | g.47936602T>G | CA356823303 | CNGA1,NIPAL1 | c.1880A>C (p.Glu627Ala) c.1892A>C (p.Glu631Ala) c.2099A>C (p.Glu700Ala) n.478+21898T>G n.563+21898T>G c.2117A>C (p.Glu706Ala) | |
4 | g.47936603C>A | CA356823308 | CNGA1,NIPAL1 | c.1879G>T (p.Glu627Ter) c.1891G>T (p.Glu631Ter) c.2098G>T (p.Glu700Ter) n.478+21899C>A n.563+21899C>A c.2116G>T (p.Glu706Ter) | |
4 | g.47936603C= | CA1455551642 | CNGA1,NIPAL1 | c.1879G= (p.Glu627=) c.1891G= (p.Glu631=) c.2098G= (p.Glu700=) n.478+21899C= n.563+21899C= c.2116G= (p.Glu706=) | |
4 | g.47936603C>G | CA356823310 | CNGA1,NIPAL1 | c.1879G>C (p.Glu627Gln) c.1891G>C (p.Glu631Gln) c.2098G>C (p.Glu700Gln) n.478+21899C>G n.563+21899C>G c.2116G>C (p.Glu706Gln) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936603C>T | CA356823312 | CNGA1,NIPAL1 | c.1879G>A (p.Glu627Lys) c.1891G>A (p.Glu631Lys) c.2098G>A (p.Glu700Lys) n.478+21899C>T n.563+21899C>T c.2116G>A (p.Glu706Lys) | dbSNP |
4 | g.47936604C>A | CA356823315 | CNGA1,NIPAL1 | c.1878G>T (p.Met626Ile) c.1890G>T (p.Met630Ile) c.2097G>T (p.Met699Ile) n.478+21900C>A n.563+21900C>A c.2115G>T (p.Met705Ile) | |
4 | g.47936604C>G | CA356823316 | CNGA1,NIPAL1 | c.1878G>C (p.Met626Ile) c.1890G>C (p.Met630Ile) c.2097G>C (p.Met699Ile) n.478+21900C>G n.563+21900C>G c.2115G>C (p.Met705Ile) | |
4 | g.47936604C>T | CA356823318 | CNGA1,NIPAL1 | c.1878G>A (p.Met626Ile) c.1890G>A (p.Met630Ile) c.2097G>A (p.Met699Ile) n.478+21900C>T n.563+21900C>T c.2115G>A (p.Met705Ile) | gnomAD v4 |
4 | g.47936605_47936606insACCAAACACACCCAACACA | CA2761332293 | CNGA1,NIPAL1 | c.1878_1879insTGTTGGGTGTGTTTGGTTG (p.Glu627CysfsTer23) c.1890_1891insTGTTGGGTGTGTTTGGTTG (p.Glu631CysfsTer23) c.2097_2098insTGTTGGGTGTGTTTGGTTG (p.Glu700CysfsTer23) n.478+21901_478+21902insACCAAACACACCCAACACA n.563+21901_563+21902insACCAAACACACCCAACACA c.2115_2116insTGTTGGGTGTGTTTGGTTG (p.Glu706CysfsTer23) | |
4 | g.47936605A= | CA1455551643 | CNGA1,NIPAL1 | c.1877T= (p.Met626=) c.1889T= (p.Met630=) c.2096T= (p.Met699=) n.478+21901A= n.563+21901A= c.2114T= (p.Met705=) | |
4 | g.47936605A>C | CA356823321 | CNGA1,NIPAL1 | c.1877T>G (p.Met626Arg) c.1889T>G (p.Met630Arg) c.2096T>G (p.Met699Arg) n.478+21901A>C n.563+21901A>C c.2114T>G (p.Met705Arg) | |
4 | g.47936605A>G | CA356823323 | CNGA1,NIPAL1 | c.1877T>C (p.Met626Thr) c.1889T>C (p.Met630Thr) c.2096T>C (p.Met699Thr) n.478+21901A>G n.563+21901A>G c.2114T>C (p.Met705Thr) | dbSNP |
4 | g.47936605A>T | CA356823325 | CNGA1,NIPAL1 | c.1877T>A (p.Met626Lys) c.1889T>A (p.Met630Lys) c.2096T>A (p.Met699Lys) n.478+21901A>T n.563+21901A>T c.2114T>A (p.Met705Lys) | |
4 | g.47936606T>A | CA356823328 | CNGA1,NIPAL1 | c.1876A>T (p.Met626Leu) c.1888A>T (p.Met630Leu) c.2095A>T (p.Met699Leu) n.478+21902T>A n.563+21902T>A c.2113A>T (p.Met705Leu) | |
4 | g.47936606T>C | CA356823330 | CNGA1,NIPAL1 | c.1876A>G (p.Met626Val) c.1888A>G (p.Met630Val) c.2095A>G (p.Met699Val) n.478+21902T>C n.563+21902T>C c.2113A>G (p.Met705Val) | |
4 | g.47936606T>G | CA356823331 | CNGA1,NIPAL1 | c.1876A>C (p.Met626Leu) c.1888A>C (p.Met630Leu) c.2095A>C (p.Met699Leu) n.478+21902T>G n.563+21902T>G c.2113A>C (p.Met705Leu) | |
4 | g.47936607T>A | CA439248260 | CNGA1,NIPAL1 | c.1875A>T (p.Arg625=) c.1887A>T (p.Arg629=) c.2094A>T (p.Arg698=) n.478+21903T>A n.563+21903T>A c.2112A>T (p.Arg704=) | |
4 | g.47936607T>C | CA439248262 | CNGA1,NIPAL1 | c.1875A>G (p.Arg625=) c.1887A>G (p.Arg629=) c.2094A>G (p.Arg698=) n.478+21903T>C n.563+21903T>C c.2112A>G (p.Arg704=) | |
4 | g.47936607T>G | CA439248261 | CNGA1,NIPAL1 | c.1875A>C (p.Arg625=) c.1887A>C (p.Arg629=) c.2094A>C (p.Arg698=) n.478+21903T>G n.563+21903T>G c.2112A>C (p.Arg704=) | |
4 | g.47936608C>A | CA356823336 | CNGA1,NIPAL1 | c.1874G>T (p.Arg625Leu) c.1886G>T (p.Arg629Leu) c.2093G>T (p.Arg698Leu) n.478+21904C>A n.563+21904C>A c.2111G>T (p.Arg704Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936608C= | CA1455551644 | CNGA1,NIPAL1 | c.1874G= (p.Arg625=) c.1886G= (p.Arg629=) c.2093G= (p.Arg698=) n.478+21904C= n.563+21904C= c.2111G= (p.Arg704=) | |
4 | g.47936608C>G | CA356823333 | CNGA1,NIPAL1 | c.1874G>C (p.Arg625Pro) c.1886G>C (p.Arg629Pro) c.2093G>C (p.Arg698Pro) n.478+21904C>G n.563+21904C>G c.2111G>C (p.Arg704Pro) | gnomAD v4 |
4 | g.47936608C>T | CA2911002 | CNGA1,NIPAL1 | c.1874G>A (p.Arg625Gln) c.1886G>A (p.Arg629Gln) c.2093G>A (p.Arg698Gln) n.478+21904C>T n.563+21904C>T c.2111G>A (p.Arg704Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.47936609G>A | CA2911003 | CNGA1,NIPAL1 | c.1873C>T (p.Arg625Ter) c.1885C>T (p.Arg629Ter) c.2092C>T (p.Arg698Ter) n.478+21905G>A n.563+21905G>A c.2110C>T (p.Arg704Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936609G>C | CA356823341 | CNGA1,NIPAL1 | c.1873C>G (p.Arg625Gly) c.1885C>G (p.Arg629Gly) c.2092C>G (p.Arg698Gly) n.478+21905G>C n.563+21905G>C c.2110C>G (p.Arg704Gly) | |
4 | g.47936609G= | CA1455551645 | CNGA1,NIPAL1 | c.1873C= (p.Arg625=) c.1885C= (p.Arg629=) c.2092C= (p.Arg698=) n.478+21905G= n.563+21905G= c.2110C= (p.Arg704=) | |
4 | g.47936609G>T | CA96688008 | CNGA1,NIPAL1 | c.1873C>A (p.Arg625=) c.1885C>A (p.Arg629=) c.2092C>A (p.Arg698=) n.478+21905G>T n.563+21905G>T c.2110C>A (p.Arg704=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47936610A>C | CA439248267 | CNGA1,NIPAL1 | c.1872T>G (p.Thr624=) c.1884T>G (p.Thr628=) c.2091T>G (p.Thr697=) n.478+21906A>C n.563+21906A>C c.2109T>G (p.Thr703=) | |
4 | g.47936610A>G | CA439248268 | CNGA1,NIPAL1 | c.1872T>C (p.Thr624=) c.1884T>C (p.Thr628=) c.2091T>C (p.Thr697=) n.478+21906A>G n.563+21906A>G c.2109T>C (p.Thr703=) | |
4 | g.47936610A>T | CA439248269 | CNGA1,NIPAL1 | c.1872T>A (p.Thr624=) c.1884T>A (p.Thr628=) c.2091T>A (p.Thr697=) n.478+21906A>T n.563+21906A>T c.2109T>A (p.Thr703=) | |
4 | g.47936611G>A | CA356823344 | CNGA1,NIPAL1 | c.1871C>T (p.Thr624Ile) c.1883C>T (p.Thr628Ile) c.2090C>T (p.Thr697Ile) n.478+21907G>A n.563+21907G>A c.2108C>T (p.Thr703Ile) | |
4 | g.47936611G>C | CA356823345 | CNGA1,NIPAL1 | c.1871C>G (p.Thr624Ser) c.1883C>G (p.Thr628Ser) c.2090C>G (p.Thr697Ser) n.478+21907G>C n.563+21907G>C c.2108C>G (p.Thr703Ser) | gnomAD v4 |
4 | g.47936611G>T | CA356823347 | CNGA1,NIPAL1 | c.1871C>A (p.Thr624Asn) c.1883C>A (p.Thr628Asn) c.2090C>A (p.Thr697Asn) n.478+21907G>T n.563+21907G>T c.2108C>A (p.Thr703Asn) | |
4 | g.47936612T>A | CA356823350 | CNGA1,NIPAL1 | c.1870A>T (p.Thr624Ser) c.1882A>T (p.Thr628Ser) c.2089A>T (p.Thr697Ser) n.478+21908T>A n.563+21908T>A c.2107A>T (p.Thr703Ser) | |
4 | g.47936612T>C | CA356823352 | CNGA1,NIPAL1 | c.1870A>G (p.Thr624Ala) c.1882A>G (p.Thr628Ala) c.2089A>G (p.Thr697Ala) n.478+21908T>C n.563+21908T>C c.2107A>G (p.Thr703Ala) | |
4 | g.47936612T>G | CA356823353 | CNGA1,NIPAL1 | c.1870A>C (p.Thr624Pro) c.1882A>C (p.Thr628Pro) c.2089A>C (p.Thr697Pro) n.478+21908T>G n.563+21908T>G c.2107A>C (p.Thr703Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936612T= | CA1455551646 | CNGA1,NIPAL1 | c.1870A= (p.Thr624=) c.1882A= (p.Thr628=) c.2089A= (p.Thr697=) n.478+21908T= n.563+21908T= c.2107A= (p.Thr703=) | |
4 | g.47936613A>C | CA439248273 | CNGA1,NIPAL1 | c.1869T>G (p.Val623=) c.1881T>G (p.Val627=) c.2088T>G (p.Val696=) n.478+21909A>C n.563+21909A>C c.2106T>G (p.Val702=) | |
4 | g.47936613A>G | CA439248274 | CNGA1,NIPAL1 | c.1869T>C (p.Val623=) c.1881T>C (p.Val627=) c.2088T>C (p.Val696=) n.478+21909A>G n.563+21909A>G c.2106T>C (p.Val702=) | |
4 | g.47936613A>T | CA439248276 | CNGA1,NIPAL1 | c.1869T>A (p.Val623=) c.1881T>A (p.Val627=) c.2088T>A (p.Val696=) n.478+21909A>T n.563+21909A>T c.2106T>A (p.Val702=) | |
4 | g.47936614A>C | CA356823356 | CNGA1,NIPAL1 | c.1868T>G (p.Val623Gly) c.1880T>G (p.Val627Gly) c.2087T>G (p.Val696Gly) n.478+21910A>C n.563+21910A>C c.2105T>G (p.Val702Gly) | |
4 | g.47936614A>G | CA356823357 | CNGA1,NIPAL1 | c.1868T>C (p.Val623Ala) c.1880T>C (p.Val627Ala) c.2087T>C (p.Val696Ala) n.478+21910A>G n.563+21910A>G c.2105T>C (p.Val702Ala) | |
4 | g.47936614A>T | CA356823359 | CNGA1,NIPAL1 | c.1868T>A (p.Val623Asp) c.1880T>A (p.Val627Asp) c.2087T>A (p.Val696Asp) n.478+21910A>T n.563+21910A>T c.2105T>A (p.Val702Asp) | |
4 | g.47936615C>A | CA2911004 | CNGA1,NIPAL1 | c.1867G>T (p.Val623Phe) c.1879G>T (p.Val627Phe) c.2086G>T (p.Val696Phe) n.478+21911C>A n.563+21911C>A c.2104G>T (p.Val702Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936615C= | CA1455551647 | CNGA1,NIPAL1 | c.1867G= (p.Val623=) c.1879G= (p.Val627=) c.2086G= (p.Val696=) n.478+21911C= n.563+21911C= c.2104G= (p.Val702=) | |
4 | g.47936615C>G | CA356823364 | CNGA1,NIPAL1 | c.1867G>C (p.Val623Leu) c.1879G>C (p.Val627Leu) c.2086G>C (p.Val696Leu) n.478+21911C>G n.563+21911C>G c.2104G>C (p.Val702Leu) | |
4 | g.47936615C>T | CA356823362 | CNGA1,NIPAL1 | c.1867G>A (p.Val623Ile) c.1879G>A (p.Val627Ile) c.2086G>A (p.Val696Ile) n.478+21911C>T n.563+21911C>T c.2104G>A (p.Val702Ile) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47936616del | CA2670552344 | CNGA1,NIPAL1 | c.1867del (p.Val623LeufsTer8) c.1879del (p.Val627LeufsTer8) c.2086del (p.Val696LeufsTer8) n.478+21912del n.563+21912del c.2104del (p.Val702LeufsTer8) | gnomAD v4 |
4 | g.47936616C>A | CA356823368 | CNGA1,NIPAL1 | c.1866G>T (p.Lys622Asn) c.1878G>T (p.Lys626Asn) c.2085G>T (p.Lys695Asn) n.478+21912C>A n.563+21912C>A c.2103G>T (p.Lys701Asn) | |
4 | g.47936616C>G | CA356823370 | CNGA1,NIPAL1 | c.1866G>C (p.Lys622Asn) c.1878G>C (p.Lys626Asn) c.2085G>C (p.Lys695Asn) n.478+21912C>G n.563+21912C>G c.2103G>C (p.Lys701Asn) | |
4 | g.47936616C>T | CA439248281 | CNGA1,NIPAL1 | c.1866G>A (p.Lys622=) c.1878G>A (p.Lys626=) c.2085G>A (p.Lys695=) n.478+21912C>T n.563+21912C>T c.2103G>A (p.Lys701=) | |
4 | g.47936617T>A | CA356823372 | CNGA1,NIPAL1 | c.1865A>T (p.Lys622Met) c.1877A>T (p.Lys626Met) c.2084A>T (p.Lys695Met) n.478+21913T>A n.563+21913T>A c.2102A>T (p.Lys701Met) | |
4 | g.47936617T>C | CA356823373 | CNGA1,NIPAL1 | c.1865A>G (p.Lys622Arg) c.1877A>G (p.Lys626Arg) c.2084A>G (p.Lys695Arg) n.478+21913T>C n.563+21913T>C c.2102A>G (p.Lys701Arg) | |
4 | g.47936617T>G | CA356823375 | CNGA1,NIPAL1 | c.1865A>C (p.Lys622Thr) c.1877A>C (p.Lys626Thr) c.2084A>C (p.Lys695Thr) n.478+21913T>G n.563+21913T>G c.2102A>C (p.Lys701Thr) | |
4 | g.47936618T>A | CA356823376 | CNGA1,NIPAL1 | c.1864A>T (p.Lys622Ter) c.1876A>T (p.Lys626Ter) c.2083A>T (p.Lys695Ter) n.478+21914T>A n.563+21914T>A c.2101A>T (p.Lys701Ter) | |
4 | g.47936618T>C | CA356823377 | CNGA1,NIPAL1 | c.1864A>G (p.Lys622Glu) c.1876A>G (p.Lys626Glu) c.2083A>G (p.Lys695Glu) n.478+21914T>C n.563+21914T>C c.2101A>G (p.Lys701Glu) | |
4 | g.47936618T>G | CA2911005 | CNGA1,NIPAL1 | c.1864A>C (p.Lys622Gln) c.1876A>C (p.Lys626Gln) c.2083A>C (p.Lys695Gln) n.478+21914T>G n.563+21914T>G c.2101A>C (p.Lys701Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936618T= | CA1455551648 | CNGA1,NIPAL1 | c.1864A= (p.Lys622=) c.1876A= (p.Lys626=) c.2083A= (p.Lys695=) n.478+21914T= n.563+21914T= c.2101A= (p.Lys701=) | |
4 | g.47936619C>A | CA356823381 | CNGA1,NIPAL1 | c.1863G>T (p.Glu621Asp) c.1875G>T (p.Glu625Asp) c.2082G>T (p.Glu694Asp) n.478+21915C>A n.563+21915C>A c.2100G>T (p.Glu700Asp) | |
4 | g.47936619C>G | CA356823383 | CNGA1,NIPAL1 | c.1863G>C (p.Glu621Asp) c.1875G>C (p.Glu625Asp) c.2082G>C (p.Glu694Asp) n.478+21915C>G n.563+21915C>G c.2100G>C (p.Glu700Asp) | |
4 | g.47936619C>T | CA439248285 | CNGA1,NIPAL1 | c.1863G>A (p.Glu621=) c.1875G>A (p.Glu625=) c.2082G>A (p.Glu694=) n.478+21915C>T n.563+21915C>T c.2100G>A (p.Glu700=) | |
4 | g.47936620T>A | CA356823386 | CNGA1,NIPAL1 | c.1862A>T (p.Glu621Val) c.1874A>T (p.Glu625Val) c.2081A>T (p.Glu694Val) n.478+21916T>A n.563+21916T>A c.2099A>T (p.Glu700Val) | |
4 | g.47936620T>C | CA356823388 | CNGA1,NIPAL1 | c.1862A>G (p.Glu621Gly) c.1874A>G (p.Glu625Gly) c.2081A>G (p.Glu694Gly) n.478+21916T>C n.563+21916T>C c.2099A>G (p.Glu700Gly) | |
4 | g.47936620T>G | CA356823390 | CNGA1,NIPAL1 | c.1862A>C (p.Glu621Ala) c.1874A>C (p.Glu625Ala) c.2081A>C (p.Glu694Ala) n.478+21916T>G n.563+21916T>G c.2099A>C (p.Glu700Ala) | |
4 | g.47936621C>A | CA356823396 | CNGA1,NIPAL1 | c.1861G>T (p.Glu621Ter) c.1873G>T (p.Glu625Ter) c.2080G>T (p.Glu694Ter) n.478+21917C>A n.563+21917C>A c.2098G>T (p.Glu700Ter) | |
4 | g.47936621C>G | CA356823393 | CNGA1,NIPAL1 | c.1861G>C (p.Glu621Gln) c.1873G>C (p.Glu625Gln) c.2080G>C (p.Glu694Gln) n.478+21917C>G n.563+21917C>G c.2098G>C (p.Glu700Gln) | |
4 | g.47936621C>T | CA356823394 | CNGA1,NIPAL1 | c.1861G>A (p.Glu621Lys) c.1873G>A (p.Glu625Lys) c.2080G>A (p.Glu694Lys) n.478+21917C>T n.563+21917C>T c.2098G>A (p.Glu700Lys) | gnomAD v4 |
4 | g.47936622T>A | CA356823399 | CNGA1,NIPAL1 | c.1860A>T (p.Glu620Asp) c.1872A>T (p.Glu624Asp) c.2079A>T (p.Glu693Asp) n.478+21918T>A n.563+21918T>A c.2097A>T (p.Glu699Asp) | |
4 | g.47936622T>C | CA439248288 | CNGA1,NIPAL1 | c.1860A>G (p.Glu620=) c.1872A>G (p.Glu624=) c.2079A>G (p.Glu693=) n.478+21918T>C n.563+21918T>C c.2097A>G (p.Glu699=) | gnomAD v4 |
4 | g.47936622T>G | CA356823401 | CNGA1,NIPAL1 | c.1860A>C (p.Glu620Asp) c.1872A>C (p.Glu624Asp) c.2079A>C (p.Glu693Asp) n.478+21918T>G n.563+21918T>G c.2097A>C (p.Glu699Asp) | |
4 | g.47936623T>A | CA356823403 | CNGA1,NIPAL1 | c.1859A>T (p.Glu620Val) c.1871A>T (p.Glu624Val) c.2078A>T (p.Glu693Val) n.478+21919T>A n.563+21919T>A c.2096A>T (p.Glu699Val) | |
4 | g.47936623T>C | CA356823404 | CNGA1,NIPAL1 | c.1859A>G (p.Glu620Gly) c.1871A>G (p.Glu624Gly) c.2078A>G (p.Glu693Gly) n.478+21919T>C n.563+21919T>C c.2096A>G (p.Glu699Gly) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936623T>G | CA356823406 | CNGA1,NIPAL1 | c.1859A>C (p.Glu620Ala) c.1871A>C (p.Glu624Ala) c.2078A>C (p.Glu693Ala) n.478+21919T>G n.563+21919T>G c.2096A>C (p.Glu699Ala) | |
4 | g.47936623T= | CA1455551649 | CNGA1,NIPAL1 | c.1859A= (p.Glu620=) c.1871A= (p.Glu624=) c.2078A= (p.Glu693=) n.478+21919T= n.563+21919T= c.2096A= (p.Glu699=) | |
4 | g.47936624C>A | CA356823410 | CNGA1,NIPAL1 | c.1858G>T (p.Glu620Ter) c.1870G>T (p.Glu624Ter) c.2077G>T (p.Glu693Ter) n.478+21920C>A n.563+21920C>A c.2095G>T (p.Glu699Ter) | |
4 | g.47936624C>G | CA356823411 | CNGA1,NIPAL1 | c.1858G>C (p.Glu620Gln) c.1870G>C (p.Glu624Gln) c.2077G>C (p.Glu693Gln) n.478+21920C>G n.563+21920C>G c.2095G>C (p.Glu699Gln) | |
4 | g.47936624C>T | CA356823413 | CNGA1,NIPAL1 | c.1858G>A (p.Glu620Lys) c.1870G>A (p.Glu624Lys) c.2077G>A (p.Glu693Lys) n.478+21920C>T n.563+21920C>T c.2095G>A (p.Glu699Lys) | ClinVar gnomAD v4 |
4 | g.47936625A>C | CA439248290 | CNGA1,NIPAL1 | c.1857T>G (p.Leu619=) c.1869T>G (p.Leu623=) c.2076T>G (p.Leu692=) n.478+21921A>C n.563+21921A>C c.2094T>G (p.Leu698=) | |
4 | g.47936625A>G | CA439248291 | CNGA1,NIPAL1 | c.1857T>C (p.Leu619=) c.1869T>C (p.Leu623=) c.2076T>C (p.Leu692=) n.478+21921A>G n.563+21921A>G c.2094T>C (p.Leu698=) | |
4 | g.47936625A>T | CA439248292 | CNGA1,NIPAL1 | c.1857T>A (p.Leu619=) c.1869T>A (p.Leu623=) c.2076T>A (p.Leu692=) n.478+21921A>T n.563+21921A>T c.2094T>A (p.Leu698=) | |
4 | g.47936626A>C | CA356823416 | CNGA1,NIPAL1 | c.1856T>G (p.Leu619Arg) c.1868T>G (p.Leu623Arg) c.2075T>G (p.Leu692Arg) n.478+21922A>C n.563+21922A>C c.2093T>G (p.Leu698Arg) | |
4 | g.47936626A>G | CA356823418 | CNGA1,NIPAL1 | c.1856T>C (p.Leu619Pro) c.1868T>C (p.Leu623Pro) c.2075T>C (p.Leu692Pro) n.478+21922A>G n.563+21922A>G c.2093T>C (p.Leu698Pro) | |
4 | g.47936626A>T | CA356823420 | CNGA1,NIPAL1 | c.1856T>A (p.Leu619His) c.1868T>A (p.Leu623His) c.2075T>A (p.Leu692His) n.478+21922A>T n.563+21922A>T c.2093T>A (p.Leu698His) | |
4 | g.47936627G>A | CA356823426 | CNGA1,NIPAL1 | c.1855C>T (p.Leu619Phe) c.1867C>T (p.Leu623Phe) c.2074C>T (p.Leu692Phe) n.478+21923G>A n.563+21923G>A c.2092C>T (p.Leu698Phe) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936627G>C | CA356823424 | CNGA1,NIPAL1 | c.1855C>G (p.Leu619Val) c.1867C>G (p.Leu623Val) c.2074C>G (p.Leu692Val) n.478+21923G>C n.563+21923G>C c.2092C>G (p.Leu698Val) | |
4 | g.47936627G= | CA1455551650 | CNGA1,NIPAL1 | c.1855C= (p.Leu619=) c.1867C= (p.Leu623=) c.2074C= (p.Leu692=) n.478+21923G= n.563+21923G= c.2092C= (p.Leu698=) | |
4 | g.47936627G>T | CA356823422 | CNGA1,NIPAL1 | c.1855C>A (p.Leu619Ile) c.1867C>A (p.Leu623Ile) c.2074C>A (p.Leu692Ile) n.478+21923G>T n.563+21923G>T c.2092C>A (p.Leu698Ile) | |
4 | g.47936628A>C | CA356823428 | CNGA1,NIPAL1 | c.1854T>G (p.Asp618Glu) c.1866T>G (p.Asp622Glu) c.2073T>G (p.Asp691Glu) n.478+21924A>C n.563+21924A>C c.2091T>G (p.Asp697Glu) | |
4 | g.47936628A>G | CA439248295 | CNGA1,NIPAL1 | c.1854T>C (p.Asp618=) c.1866T>C (p.Asp622=) c.2073T>C (p.Asp691=) n.478+21924A>G n.563+21924A>G c.2091T>C (p.Asp697=) | |
4 | g.47936628A>T | CA356823430 | CNGA1,NIPAL1 | c.1854T>A (p.Asp618Glu) c.1866T>A (p.Asp622Glu) c.2073T>A (p.Asp691Glu) n.478+21924A>T n.563+21924A>T c.2091T>A (p.Asp697Glu) | |
4 | g.47936629T>A | CA356823432 | CNGA1,NIPAL1 | c.1853A>T (p.Asp618Val) c.1865A>T (p.Asp622Val) c.2072A>T (p.Asp691Val) n.478+21925T>A n.563+21925T>A c.2090A>T (p.Asp697Val) | |
4 | g.47936629T>C | CA2911006 | CNGA1,NIPAL1 | c.1853A>G (p.Asp618Gly) c.1865A>G (p.Asp622Gly) c.2072A>G (p.Asp691Gly) n.478+21925T>C n.563+21925T>C c.2090A>G (p.Asp697Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936629T>G | CA356823434 | CNGA1,NIPAL1 | c.1853A>C (p.Asp618Ala) c.1865A>C (p.Asp622Ala) c.2072A>C (p.Asp691Ala) n.478+21925T>G n.563+21925T>G c.2090A>C (p.Asp697Ala) | |
4 | g.47936629T= | CA1455551651 | CNGA1,NIPAL1 | c.1853A= (p.Asp618=) c.1865A= (p.Asp622=) c.2072A= (p.Asp691=) n.478+21925T= n.563+21925T= c.2090A= (p.Asp697=) | |
4 | g.47936630C>A | CA356823438 | CNGA1,NIPAL1 | c.1852G>T (p.Asp618Tyr) c.1864G>T (p.Asp622Tyr) c.2071G>T (p.Asp691Tyr) n.478+21926C>A n.563+21926C>A c.2089G>T (p.Asp697Tyr) | |
4 | g.47936630C= | CA1455551652 | CNGA1,NIPAL1 | c.1852G= (p.Asp618=) c.1864G= (p.Asp622=) c.2071G= (p.Asp691=) n.478+21926C= n.563+21926C= c.2089G= (p.Asp697=) | |
4 | g.47936630C>G | CA356823442 | CNGA1,NIPAL1 | c.1852G>C (p.Asp618His) c.1864G>C (p.Asp622His) c.2071G>C (p.Asp691His) n.478+21926C>G n.563+21926C>G c.2089G>C (p.Asp697His) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47936630C>T | CA356823440 | CNGA1,NIPAL1 | c.1852G>A (p.Asp618Asn) c.1864G>A (p.Asp622Asn) c.2071G>A (p.Asp691Asn) n.478+21926C>T n.563+21926C>T c.2089G>A (p.Asp697Asn) | gnomAD v4 |
4 | g.47936631T>A | CA356823445 | CNGA1,NIPAL1 | c.1851A>T (p.Lys617Asn) c.1863A>T (p.Lys621Asn) c.2070A>T (p.Lys690Asn) n.478+21927T>A n.563+21927T>A c.2088A>T (p.Lys696Asn) | |
4 | g.47936631T>C | CA439248298 | CNGA1,NIPAL1 | c.1851A>G (p.Lys617=) c.1863A>G (p.Lys621=) c.2070A>G (p.Lys690=) n.478+21927T>C n.563+21927T>C c.2088A>G (p.Lys696=) | |
4 | g.47936631T>G | CA356823447 | CNGA1,NIPAL1 | c.1851A>C (p.Lys617Asn) c.1863A>C (p.Lys621Asn) c.2070A>C (p.Lys690Asn) n.478+21927T>G n.563+21927T>G c.2088A>C (p.Lys696Asn) | |
4 | g.47936632T>A | CA356823448 | CNGA1,NIPAL1 | c.1850A>T (p.Lys617Ile) c.1862A>T (p.Lys621Ile) c.2069A>T (p.Lys690Ile) n.478+21928T>A n.563+21928T>A c.2087A>T (p.Lys696Ile) | |
4 | g.47936632T>C | CA356823451 | CNGA1,NIPAL1 | c.1850A>G (p.Lys617Arg) c.1862A>G (p.Lys621Arg) c.2069A>G (p.Lys690Arg) n.478+21928T>C n.563+21928T>C c.2087A>G (p.Lys696Arg) | |
4 | g.47936632T>G | CA356823453 | CNGA1,NIPAL1 | c.1850A>C (p.Lys617Thr) c.1862A>C (p.Lys621Thr) c.2069A>C (p.Lys690Thr) n.478+21928T>G n.563+21928T>G c.2087A>C (p.Lys696Thr) | ClinVar dbSNP gnomAD v4 |
4 | g.47936632T= | CA1455551653 | CNGA1,NIPAL1 | c.1850A= (p.Lys617=) c.1862A= (p.Lys621=) c.2069A= (p.Lys690=) n.478+21928T= n.563+21928T= c.2087A= (p.Lys696=) | |
4 | g.47936633T>A | CA356823455 | CNGA1,NIPAL1 | c.1849A>T (p.Lys617Ter) c.1861A>T (p.Lys621Ter) c.2068A>T (p.Lys690Ter) n.478+21929T>A n.563+21929T>A c.2086A>T (p.Lys696Ter) | |
4 | g.47936633T>C | CA356823457 | CNGA1,NIPAL1 | c.1849A>G (p.Lys617Glu) c.1861A>G (p.Lys621Glu) c.2068A>G (p.Lys690Glu) n.478+21929T>C n.563+21929T>C c.2086A>G (p.Lys696Glu) | gnomAD v4 |
4 | g.47936633T>G | CA356823459 | CNGA1,NIPAL1 | c.1849A>C (p.Lys617Gln) c.1861A>C (p.Lys621Gln) c.2068A>C (p.Lys690Gln) n.478+21929T>G n.563+21929T>G c.2086A>C (p.Lys696Gln) | |
4 | g.47936634A>C | CA439403842 | CNGA1,NIPAL1 | c.1848T>G (p.Pro616=) c.1860T>G (p.Pro620=) c.2067T>G (p.Pro689=) n.478+21930A>C n.563+21930A>C c.2085T>G (p.Pro695=) | |
4 | g.47936634A>G | CA439403843 | CNGA1,NIPAL1 | c.1848T>C (p.Pro616=) c.1860T>C (p.Pro620=) c.2067T>C (p.Pro689=) n.478+21930A>G n.563+21930A>G c.2085T>C (p.Pro695=) | |
4 | g.47936634A>T | CA439403844 | CNGA1,NIPAL1 | c.1848T>A (p.Pro616=) c.1860T>A (p.Pro620=) c.2067T>A (p.Pro689=) n.478+21930A>T n.563+21930A>T c.2085T>A (p.Pro695=) | |
4 | g.47936635G>A | CA356823462 | CNGA1,NIPAL1 | c.1847C>T (p.Pro616Leu) c.1859C>T (p.Pro620Leu) c.2066C>T (p.Pro689Leu) n.478+21931G>A n.563+21931G>A c.2084C>T (p.Pro695Leu) | |
4 | g.47936635G>C | CA356823463 | CNGA1,NIPAL1 | c.1847C>G (p.Pro616Arg) c.1859C>G (p.Pro620Arg) c.2066C>G (p.Pro689Arg) n.478+21931G>C n.563+21931G>C c.2084C>G (p.Pro695Arg) | |
4 | g.47936635G>T | CA356823465 | CNGA1,NIPAL1 | c.1847C>A (p.Pro616His) c.1859C>A (p.Pro620His) c.2066C>A (p.Pro689His) n.478+21931G>T n.563+21931G>T c.2084C>A (p.Pro695His) | |
4 | g.47936636G>A | CA96688018 | CNGA1,NIPAL1 | c.1846C>T (p.Pro616Ser) c.1858C>T (p.Pro620Ser) c.2065C>T (p.Pro689Ser) n.478+21932G>A n.563+21932G>A c.2083C>T (p.Pro695Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
4 | g.47936636G>C | CA356823468 | CNGA1,NIPAL1 | c.1846C>G (p.Pro616Ala) c.1858C>G (p.Pro620Ala) c.2065C>G (p.Pro689Ala) n.478+21932G>C n.563+21932G>C c.2083C>G (p.Pro695Ala) | |
4 | g.47936636G= | CA1455551654 | CNGA1,NIPAL1 | c.1846C= (p.Pro616=) c.1858C= (p.Pro620=) c.2065C= (p.Pro689=) n.478+21932G= n.563+21932G= c.2083C= (p.Pro695=) | |
4 | g.47936636G>T | CA356823470 | CNGA1,NIPAL1 | c.1846C>A (p.Pro616Thr) c.1858C>A (p.Pro620Thr) c.2065C>A (p.Pro689Thr) n.478+21932G>T n.563+21932G>T c.2083C>A (p.Pro695Thr) | COSMIC |
4 | g.47936637A>C | CA356823473 | CNGA1,NIPAL1 | c.1845T>G (p.Asp615Glu) c.1857T>G (p.Asp619Glu) c.2064T>G (p.Asp688Glu) n.478+21933A>C n.563+21933A>C c.2082T>G (p.Asp694Glu) | |
4 | g.47936637A>G | CA439403849 | CNGA1,NIPAL1 | c.1845T>C (p.Asp615=) c.1857T>C (p.Asp619=) c.2064T>C (p.Asp688=) n.478+21933A>G n.563+21933A>G c.2082T>C (p.Asp694=) | |
4 | g.47936637A>T | CA356823474 | CNGA1,NIPAL1 | c.1845T>A (p.Asp615Glu) c.1857T>A (p.Asp619Glu) c.2064T>A (p.Asp688Glu) n.478+21933A>T n.563+21933A>T c.2082T>A (p.Asp694Glu) | |
4 | g.47936638T>A | CA356823477 | CNGA1,NIPAL1 | c.1844A>T (p.Asp615Val) c.1856A>T (p.Asp619Val) c.2063A>T (p.Asp688Val) n.478+21934T>A n.563+21934T>A c.2081A>T (p.Asp694Val) | gnomAD v4 |
4 | g.47936638T>C | CA356823479 | CNGA1,NIPAL1 | c.1844A>G (p.Asp615Gly) c.1856A>G (p.Asp619Gly) c.2063A>G (p.Asp688Gly) n.478+21934T>C n.563+21934T>C c.2081A>G (p.Asp694Gly) | |
4 | g.47936638T>G | CA356823482 | CNGA1,NIPAL1 | c.1844A>C (p.Asp615Ala) c.1856A>C (p.Asp619Ala) c.2063A>C (p.Asp688Ala) n.478+21934T>G n.563+21934T>G c.2081A>C (p.Asp694Ala) | |
4 | g.47936639C>A | CA356823484 | CNGA1,NIPAL1 | c.1843G>T (p.Asp615Tyr) c.1855G>T (p.Asp619Tyr) c.2062G>T (p.Asp688Tyr) n.478+21935C>A n.563+21935C>A c.2080G>T (p.Asp694Tyr) | |
4 | g.47936639C>G | CA356823486 | CNGA1,NIPAL1 | c.1843G>C (p.Asp615His) c.1855G>C (p.Asp619His) c.2062G>C (p.Asp688His) n.478+21935C>G n.563+21935C>G c.2080G>C (p.Asp694His) | |
4 | g.47936639C>T | CA356823488 | CNGA1,NIPAL1 | c.1843G>A (p.Asp615Asn) c.1855G>A (p.Asp619Asn) c.2062G>A (p.Asp688Asn) n.478+21935C>T n.563+21935C>T c.2080G>A (p.Asp694Asn) | |
4 | g.47936640del | CA2586973851 | CNGA1,NIPAL1 | c.1842del (p.Ser614ArgfsTer17) c.1854del (p.Ser618ArgfsTer17) c.2061del (p.Ser687ArgfsTer17) n.478+21936del n.563+21936del c.2079del (p.Ser693ArgfsTer17) | |
4 | g.47936640A= | CA1455551655 | CNGA1,NIPAL1 | c.1842T= (p.Ser614=) c.1854T= (p.Ser618=) c.2061T= (p.Ser687=) n.478+21936A= n.563+21936A= c.2079T= (p.Ser693=) | |
4 | g.47936640A>C | CA2911007 | CNGA1,NIPAL1 | c.1842T>G (p.Ser614Arg) c.1854T>G (p.Ser618Arg) c.2061T>G (p.Ser687Arg) n.478+21936A>C n.563+21936A>C c.2079T>G (p.Ser693Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936640A>G | CA439403850 | CNGA1,NIPAL1 | c.1842T>C (p.Ser614=) c.1854T>C (p.Ser618=) c.2061T>C (p.Ser687=) n.478+21936A>G n.563+21936A>G c.2079T>C (p.Ser693=) | |
4 | g.47936640A>T | CA2911008 | CNGA1,NIPAL1 | c.1842T>A (p.Ser614Arg) c.1854T>A (p.Ser618Arg) c.2061T>A (p.Ser687Arg) n.478+21936A>T n.563+21936A>T c.2079T>A (p.Ser693Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936641C>A | CA356823495 | CNGA1,NIPAL1 | c.1841G>T (p.Ser614Ile) c.1853G>T (p.Ser618Ile) c.2060G>T (p.Ser687Ile) n.478+21937C>A n.563+21937C>A c.2078G>T (p.Ser693Ile) | |
4 | g.47936641C>G | CA356823497 | CNGA1,NIPAL1 | c.1841G>C (p.Ser614Thr) c.1853G>C (p.Ser618Thr) c.2060G>C (p.Ser687Thr) n.478+21937C>G n.563+21937C>G c.2078G>C (p.Ser693Thr) | |
4 | g.47936641C>T | CA356823494 | CNGA1,NIPAL1 | c.1841G>A (p.Ser614Asn) c.1853G>A (p.Ser618Asn) c.2060G>A (p.Ser687Asn) n.478+21937C>T n.563+21937C>T c.2078G>A (p.Ser693Asn) | gnomAD v4 |
4 | g.47936642T>A | CA356823500 | CNGA1,NIPAL1 | c.1840A>T (p.Ser614Cys) c.1852A>T (p.Ser618Cys) c.2059A>T (p.Ser687Cys) n.478+21938T>A n.563+21938T>A c.2077A>T (p.Ser693Cys) | |
4 | g.47936642T>C | CA356823501 | CNGA1,NIPAL1 | c.1840A>G (p.Ser614Gly) c.1852A>G (p.Ser618Gly) c.2059A>G (p.Ser687Gly) n.478+21938T>C n.563+21938T>C c.2077A>G (p.Ser693Gly) | |
4 | g.47936642T>G | CA356823503 | CNGA1,NIPAL1 | c.1840A>C (p.Ser614Arg) c.1852A>C (p.Ser618Arg) c.2059A>C (p.Ser687Arg) n.478+21938T>G n.563+21938T>G c.2077A>C (p.Ser693Arg) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936642T= | CA1455551656 | CNGA1,NIPAL1 | c.1840A= (p.Ser614=) c.1852A= (p.Ser618=) c.2059A= (p.Ser687=) n.478+21938T= n.563+21938T= c.2077A= (p.Ser693=) | |
4 | g.47936643G>A | CA439403856 | CNGA1,NIPAL1 | c.1839C>T (p.Gly613=) c.1851C>T (p.Gly617=) c.2058C>T (p.Gly686=) n.478+21939G>A n.563+21939G>A c.2076C>T (p.Gly692=) | |
4 | g.47936643G>C | CA439403855 | CNGA1,NIPAL1 | c.1839C>G (p.Gly613=) c.1851C>G (p.Gly617=) c.2058C>G (p.Gly686=) n.478+21939G>C n.563+21939G>C c.2076C>G (p.Gly692=) | |
4 | g.47936643G>T | CA439403857 | CNGA1,NIPAL1 | c.1839C>A (p.Gly613=) c.1851C>A (p.Gly617=) c.2058C>A (p.Gly686=) n.478+21939G>T n.563+21939G>T c.2076C>A (p.Gly692=) | |
4 | g.47936644C>A | CA356823506 | CNGA1,NIPAL1 | c.1838G>T (p.Gly613Val) c.1850G>T (p.Gly617Val) c.2057G>T (p.Gly686Val) n.478+21940C>A n.563+21940C>A c.2075G>T (p.Gly692Val) | |
4 | g.47936644C>G | CA356823508 | CNGA1,NIPAL1 | c.1838G>C (p.Gly613Ala) c.1850G>C (p.Gly617Ala) c.2057G>C (p.Gly686Ala) n.478+21940C>G n.563+21940C>G c.2075G>C (p.Gly692Ala) | |
4 | g.47936644C>T | CA356823510 | CNGA1,NIPAL1 | c.1838G>A (p.Gly613Asp) c.1850G>A (p.Gly617Asp) c.2057G>A (p.Gly686Asp) n.478+21940C>T n.563+21940C>T c.2075G>A (p.Gly692Asp) | |
4 | g.47936645C>A | CA356823513 | CNGA1,NIPAL1 | c.1837G>T (p.Gly613Cys) c.1849G>T (p.Gly617Cys) c.2056G>T (p.Gly686Cys) n.478+21941C>A n.563+21941C>A c.2074G>T (p.Gly692Cys) | |
4 | g.47936645C>G | CA356823515 | CNGA1,NIPAL1 | c.1837G>C (p.Gly613Arg) c.1849G>C (p.Gly617Arg) c.2056G>C (p.Gly686Arg) n.478+21941C>G n.563+21941C>G c.2074G>C (p.Gly692Arg) | |
4 | g.47936645C>T | CA356823516 | CNGA1,NIPAL1 | c.1837G>A (p.Gly613Ser) c.1849G>A (p.Gly617Ser) c.2056G>A (p.Gly686Ser) n.478+21941C>T n.563+21941C>T c.2074G>A (p.Gly692Ser) | |
4 | g.47936646A>C | CA439403858 | CNGA1,NIPAL1 | c.1836T>G (p.Ala612=) c.1848T>G (p.Ala616=) c.2055T>G (p.Ala685=) n.478+21942A>C n.563+21942A>C c.2073T>G (p.Ala691=) | |
4 | g.47936646A>G | CA439403859 | CNGA1,NIPAL1 | c.1836T>C (p.Ala612=) c.1848T>C (p.Ala616=) c.2055T>C (p.Ala685=) n.478+21942A>G n.563+21942A>G c.2073T>C (p.Ala691=) | |
4 | g.47936646A>T | CA439403860 | CNGA1,NIPAL1 | c.1836T>A (p.Ala612=) c.1848T>A (p.Ala616=) c.2055T>A (p.Ala685=) n.478+21942A>T n.563+21942A>T c.2073T>A (p.Ala691=) | |
4 | g.47936647G>A | CA356823520 | CNGA1,NIPAL1 | c.1835C>T (p.Ala612Val) c.1847C>T (p.Ala616Val) c.2054C>T (p.Ala685Val) n.478+21943G>A n.563+21943G>A c.2072C>T (p.Ala691Val) | |
4 | g.47936647G>C | CA356823521 | CNGA1,NIPAL1 | c.1835C>G (p.Ala612Gly) c.1847C>G (p.Ala616Gly) c.2054C>G (p.Ala685Gly) n.478+21943G>C n.563+21943G>C c.2072C>G (p.Ala691Gly) | |
4 | g.47936647G>T | CA356823523 | CNGA1,NIPAL1 | c.1835C>A (p.Ala612Asp) c.1847C>A (p.Ala616Asp) c.2054C>A (p.Ala685Asp) n.478+21943G>T n.563+21943G>T c.2072C>A (p.Ala691Asp) | gnomAD v4 |
4 | g.47936648C>A | CA356823528 | CNGA1,NIPAL1 | c.1834G>T (p.Ala612Ser) c.1846G>T (p.Ala616Ser) c.2053G>T (p.Ala685Ser) n.478+21944C>A n.563+21944C>A c.2071G>T (p.Ala691Ser) | |
4 | g.47936648C>G | CA356823530 | CNGA1,NIPAL1 | c.1834G>C (p.Ala612Pro) c.1846G>C (p.Ala616Pro) c.2053G>C (p.Ala685Pro) n.478+21944C>G n.563+21944C>G c.2071G>C (p.Ala691Pro) | |
4 | g.47936648C>T | CA356823526 | CNGA1,NIPAL1 | c.1834G>A (p.Ala612Thr) c.1846G>A (p.Ala616Thr) c.2053G>A (p.Ala685Thr) n.478+21944C>T n.563+21944C>T c.2071G>A (p.Ala691Thr) | |
4 | g.47936649A>C | CA356823533 | CNGA1,NIPAL1 | c.1833T>G (p.Asn611Lys) c.1845T>G (p.Asn615Lys) c.2052T>G (p.Asn684Lys) n.478+21945A>C n.563+21945A>C c.2070T>G (p.Asn690Lys) | |
4 | g.47936649A>G | CA439403862 | CNGA1,NIPAL1 | c.1833T>C (p.Asn611=) c.1845T>C (p.Asn615=) c.2052T>C (p.Asn684=) n.478+21945A>G n.563+21945A>G c.2070T>C (p.Asn690=) | |
4 | g.47936649A>T | CA356823535 | CNGA1,NIPAL1 | c.1833T>A (p.Asn611Lys) c.1845T>A (p.Asn615Lys) c.2052T>A (p.Asn684Lys) n.478+21945A>T n.563+21945A>T c.2070T>A (p.Asn690Lys) | gnomAD v4 |
4 | g.47936650T>A | CA356823536 | CNGA1,NIPAL1 | c.1832A>T (p.Asn611Ile) c.1844A>T (p.Asn615Ile) c.2051A>T (p.Asn684Ile) n.478+21946T>A n.563+21946T>A c.2069A>T (p.Asn690Ile) | |
4 | g.47936650T>C | CA356823539 | CNGA1,NIPAL1 | c.1832A>G (p.Asn611Ser) c.1844A>G (p.Asn615Ser) c.2051A>G (p.Asn684Ser) n.478+21946T>C n.563+21946T>C c.2069A>G (p.Asn690Ser) | dbSNP gnomAD v4 |
4 | g.47936650T>G | CA356823540 | CNGA1,NIPAL1 | c.1832A>C (p.Asn611Thr) c.1844A>C (p.Asn615Thr) c.2051A>C (p.Asn684Thr) n.478+21946T>G n.563+21946T>G c.2069A>C (p.Asn690Thr) | gnomAD v4 |
4 | g.47936650T= | CA1455551657 | CNGA1,NIPAL1 | c.1832A= (p.Asn611=) c.1844A= (p.Asn615=) c.2051A= (p.Asn684=) n.478+21946T= n.563+21946T= c.2069A= (p.Asn690=) | |
4 | g.47936651T>A | CA356823546 | CNGA1,NIPAL1 | c.1831A>T (p.Asn611Tyr) c.1843A>T (p.Asn615Tyr) c.2050A>T (p.Asn684Tyr) n.478+21947T>A n.563+21947T>A c.2068A>T (p.Asn690Tyr) | |
4 | g.47936651T>C | CA356823543 | CNGA1,NIPAL1 | c.1831A>G (p.Asn611Asp) c.1843A>G (p.Asn615Asp) c.2050A>G (p.Asn684Asp) n.478+21947T>C n.563+21947T>C c.2068A>G (p.Asn690Asp) | |
4 | g.47936651T>G | CA356823544 | CNGA1,NIPAL1 | c.1831A>C (p.Asn611His) c.1843A>C (p.Asn615His) c.2050A>C (p.Asn684His) n.478+21947T>G n.563+21947T>G c.2068A>C (p.Asn690His) | |
4 | g.47936652T>A | CA439403864 | CNGA1,NIPAL1 | c.1830A>T (p.Ala610=) c.1842A>T (p.Ala614=) c.2049A>T (p.Ala683=) n.478+21948T>A n.563+21948T>A c.2067A>T (p.Ala689=) | |
4 | g.47936652T>C | CA439403865 | CNGA1,NIPAL1 | c.1830A>G (p.Ala610=) c.1842A>G (p.Ala614=) c.2049A>G (p.Ala683=) n.478+21948T>C n.563+21948T>C c.2067A>G (p.Ala689=) | |
4 | g.47936652T>G | CA439403866 | CNGA1,NIPAL1 | c.1830A>C (p.Ala610=) c.1842A>C (p.Ala614=) c.2049A>C (p.Ala683=) n.478+21948T>G n.563+21948T>G c.2067A>C (p.Ala689=) | |
4 | g.47936653G>A | CA356823549 | CNGA1,NIPAL1 | c.1829C>T (p.Ala610Val) c.1841C>T (p.Ala614Val) c.2048C>T (p.Ala683Val) n.478+21949G>A n.563+21949G>A c.2066C>T (p.Ala689Val) | dbSNP |
4 | g.47936653G>C | CA356823551 | CNGA1,NIPAL1 | c.1829C>G (p.Ala610Gly) c.1841C>G (p.Ala614Gly) c.2048C>G (p.Ala683Gly) n.478+21949G>C n.563+21949G>C c.2066C>G (p.Ala689Gly) | |
4 | g.47936653G= | CA1455551658 | CNGA1,NIPAL1 | c.1829C= (p.Ala610=) c.1841C= (p.Ala614=) c.2048C= (p.Ala683=) n.478+21949G= n.563+21949G= c.2066C= (p.Ala689=) | |
4 | g.47936653G>T | CA356823553 | CNGA1,NIPAL1 | c.1829C>A (p.Ala610Glu) c.1841C>A (p.Ala614Glu) c.2048C>A (p.Ala683Glu) n.478+21949G>T n.563+21949G>T c.2066C>A (p.Ala689Glu) | |
4 | g.47936654C>A | CA356823556 | CNGA1,NIPAL1 | c.1828G>T (p.Ala610Ser) c.1840G>T (p.Ala614Ser) c.2047G>T (p.Ala683Ser) n.478+21950C>A n.563+21950C>A c.2065G>T (p.Ala689Ser) | |
4 | g.47936654C>G | CA356823558 | CNGA1,NIPAL1 | c.1828G>C (p.Ala610Pro) c.1840G>C (p.Ala614Pro) c.2047G>C (p.Ala683Pro) n.478+21950C>G n.563+21950C>G c.2065G>C (p.Ala689Pro) | |
4 | g.47936654C>T | CA356823560 | CNGA1,NIPAL1 | c.1828G>A (p.Ala610Thr) c.1840G>A (p.Ala614Thr) c.2047G>A (p.Ala683Thr) n.478+21950C>T n.563+21950C>T c.2065G>A (p.Ala689Thr) | gnomAD v4 |
4 | g.47936655A= | CA1455551659 | CNGA1,NIPAL1 | c.1827T= (p.Ile609=) c.1839T= (p.Ile613=) c.2046T= (p.Ile682=) n.478+21951A= n.563+21951A= c.2064T= (p.Ile688=) | |
4 | g.47936655A>C | CA356823562 | CNGA1,NIPAL1 | c.1827T>G (p.Ile609Met) c.1839T>G (p.Ile613Met) c.2046T>G (p.Ile682Met) n.478+21951A>C n.563+21951A>C c.2064T>G (p.Ile688Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936655A>G | CA439403869 | CNGA1,NIPAL1 | c.1827T>C (p.Ile609=) c.1839T>C (p.Ile613=) c.2046T>C (p.Ile682=) n.478+21951A>G n.563+21951A>G c.2064T>C (p.Ile688=) | |
4 | g.47936655A>T | CA439403870 | CNGA1,NIPAL1 | c.1827T>A (p.Ile609=) c.1839T>A (p.Ile613=) c.2046T>A (p.Ile682=) n.478+21951A>T n.563+21951A>T c.2064T>A (p.Ile688=) | |
4 | g.47936656A>C | CA356823567 | CNGA1,NIPAL1 | c.1826T>G (p.Ile609Ser) c.1838T>G (p.Ile613Ser) c.2045T>G (p.Ile682Ser) n.478+21952A>C n.563+21952A>C c.2063T>G (p.Ile688Ser) | |
4 | g.47936656A>G | CA356823565 | CNGA1,NIPAL1 | c.1826T>C (p.Ile609Thr) c.1838T>C (p.Ile613Thr) c.2045T>C (p.Ile682Thr) n.478+21952A>G n.563+21952A>G c.2063T>C (p.Ile688Thr) | |
4 | g.47936656A>T | CA356823569 | CNGA1,NIPAL1 | c.1826T>A (p.Ile609Asn) c.1838T>A (p.Ile613Asn) c.2045T>A (p.Ile682Asn) n.478+21952A>T n.563+21952A>T c.2063T>A (p.Ile688Asn) | |
4 | g.47936657T>A | CA356823572 | CNGA1,NIPAL1 | c.1825A>T (p.Ile609Phe) c.1837A>T (p.Ile613Phe) c.2044A>T (p.Ile682Phe) n.478+21953T>A n.563+21953T>A c.2062A>T (p.Ile688Phe) | |
4 | g.47936657T>C | CA356823573 | CNGA1,NIPAL1 | c.1825A>G (p.Ile609Val) c.1837A>G (p.Ile613Val) c.2044A>G (p.Ile682Val) n.478+21953T>C n.563+21953T>C c.2062A>G (p.Ile688Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936657T>G | CA356823576 | CNGA1,NIPAL1 | c.1825A>C (p.Ile609Leu) c.1837A>C (p.Ile613Leu) c.2044A>C (p.Ile682Leu) n.478+21953T>G n.563+21953T>G c.2062A>C (p.Ile688Leu) | |
4 | g.47936657T= | CA1455551660 | CNGA1,NIPAL1 | c.1825A= (p.Ile609=) c.1837A= (p.Ile613=) c.2044A= (p.Ile682=) n.478+21953T= n.563+21953T= c.2062A= (p.Ile688=) | |
4 | g.47936658G>A | CA439403873 | CNGA1,NIPAL1 | c.1824C>T (p.Asn608=) c.1836C>T (p.Asn612=) c.2043C>T (p.Asn681=) n.478+21954G>A n.563+21954G>A c.2061C>T (p.Asn687=) | ClinVar dbSNP gnomAD v4 |
4 | g.47936658G>C | CA356823578 | CNGA1,NIPAL1 | c.1824C>G (p.Asn608Lys) c.1836C>G (p.Asn612Lys) c.2043C>G (p.Asn681Lys) n.478+21954G>C n.563+21954G>C c.2061C>G (p.Asn687Lys) | |
4 | g.47936658G= | CA1455551661 | CNGA1,NIPAL1 | c.1824C= (p.Asn608=) c.1836C= (p.Asn612=) c.2043C= (p.Asn681=) n.478+21954G= n.563+21954G= c.2061C= (p.Asn687=) | |
4 | g.47936658G>T | CA356823580 | CNGA1,NIPAL1 | c.1824C>A (p.Asn608Lys) c.1836C>A (p.Asn612Lys) c.2043C>A (p.Asn681Lys) n.478+21954G>T n.563+21954G>T c.2061C>A (p.Asn687Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.47936659T>A | CA356823583 | CNGA1,NIPAL1 | c.1823A>T (p.Asn608Ile) c.1835A>T (p.Asn612Ile) c.2042A>T (p.Asn681Ile) n.478+21955T>A n.563+21955T>A c.2060A>T (p.Asn687Ile) | |
4 | g.47936659T>C | CA356823585 | CNGA1,NIPAL1 | c.1823A>G (p.Asn608Ser) c.1835A>G (p.Asn612Ser) c.2042A>G (p.Asn681Ser) n.478+21955T>C n.563+21955T>C c.2060A>G (p.Asn687Ser) | |
4 | g.47936659T>G | CA356823587 | CNGA1,NIPAL1 | c.1823A>C (p.Asn608Thr) c.1835A>C (p.Asn612Thr) c.2042A>C (p.Asn681Thr) n.478+21955T>G n.563+21955T>G c.2060A>C (p.Asn687Thr) | |
4 | g.47936660T>A | CA356823589 | CNGA1,NIPAL1 | c.1822A>T (p.Asn608Tyr) c.1834A>T (p.Asn612Tyr) c.2041A>T (p.Asn681Tyr) n.478+21956T>A n.563+21956T>A c.2059A>T (p.Asn687Tyr) | |
4 | g.47936660T>C | CA356823591 | CNGA1,NIPAL1 | c.1822A>G (p.Asn608Asp) c.1834A>G (p.Asn612Asp) c.2041A>G (p.Asn681Asp) n.478+21956T>C n.563+21956T>C c.2059A>G (p.Asn687Asp) | |
4 | g.47936660T>G | CA356823593 | CNGA1,NIPAL1 | c.1822A>C (p.Asn608His) c.1834A>C (p.Asn612His) c.2041A>C (p.Asn681His) n.478+21956T>G n.563+21956T>G c.2059A>C (p.Asn687His) | |
4 | g.47936661T>A | CA439403875 | CNGA1,NIPAL1 | c.1821A>T (p.Leu607=) c.1833A>T (p.Leu611=) c.2040A>T (p.Leu680=) n.478+21957T>A n.563+21957T>A c.2058A>T (p.Leu686=) | dbSNP |
4 | g.47936661T>C | CA439403876 | CNGA1,NIPAL1 | c.1821A>G (p.Leu607=) c.1833A>G (p.Leu611=) c.2040A>G (p.Leu680=) n.478+21957T>C n.563+21957T>C c.2058A>G (p.Leu686=) | |
4 | g.47936661T>G | CA439403877 | CNGA1,NIPAL1 | c.1821A>C (p.Leu607=) c.1833A>C (p.Leu611=) c.2040A>C (p.Leu680=) n.478+21957T>G n.563+21957T>G c.2058A>C (p.Leu686=) | |
4 | g.47936661T= | CA1455551662 | CNGA1,NIPAL1 | c.1821A= (p.Leu607=) c.1833A= (p.Leu611=) c.2040A= (p.Leu680=) n.478+21957T= n.563+21957T= c.2058A= (p.Leu686=) | |
4 | g.47936662A>C | CA356823596 | CNGA1,NIPAL1 | c.1820T>G (p.Leu607Arg) c.1832T>G (p.Leu611Arg) c.2039T>G (p.Leu680Arg) n.478+21958A>C n.563+21958A>C c.2057T>G (p.Leu686Arg) | |
4 | g.47936662A>G | CA356823597 | CNGA1,NIPAL1 | c.1820T>C (p.Leu607Pro) c.1832T>C (p.Leu611Pro) c.2039T>C (p.Leu680Pro) n.478+21958A>G n.563+21958A>G c.2057T>C (p.Leu686Pro) | |
4 | g.47936662A>T | CA356823599 | CNGA1,NIPAL1 | c.1820T>A (p.Leu607Gln) c.1832T>A (p.Leu611Gln) c.2039T>A (p.Leu680Gln) n.478+21958A>T n.563+21958A>T c.2057T>A (p.Leu686Gln) | |
4 | g.47936663G>A | CA439403878 | CNGA1,NIPAL1 | c.1819C>T (p.Leu607=) c.1831C>T (p.Leu611=) c.2038C>T (p.Leu680=) n.478+21959G>A n.563+21959G>A c.2056C>T (p.Leu686=) | |
4 | g.47936663G>C | CA96688038 | CNGA1,NIPAL1 | c.1819C>G (p.Leu607Val) c.1831C>G (p.Leu611Val) c.2038C>G (p.Leu680Val) n.478+21959G>C n.563+21959G>C c.2056C>G (p.Leu686Val) | dbSNP gnomAD v4 |
4 | g.47936663G= | CA1455551663 | CNGA1,NIPAL1 | c.1819C= (p.Leu607=) c.1831C= (p.Leu611=) c.2038C= (p.Leu680=) n.478+21959G= n.563+21959G= c.2056C= (p.Leu686=) | |
4 | g.47936663G>T | CA356823603 | CNGA1,NIPAL1 | c.1819C>A (p.Leu607Ile) c.1831C>A (p.Leu611Ile) c.2038C>A (p.Leu680Ile) n.478+21959G>T n.563+21959G>T c.2056C>A (p.Leu686Ile) | |
4 | g.47936664A= | CA1455551664 | CNGA1,NIPAL1 | c.1818T= (p.Asp606=) c.1830T= (p.Asp610=) c.2037T= (p.Asp679=) n.478+21960A= n.563+21960A= c.2055T= (p.Asp685=) | |
4 | g.47936664A>C | CA356823606 | CNGA1,NIPAL1 | c.1818T>G (p.Asp606Glu) c.1830T>G (p.Asp610Glu) c.2037T>G (p.Asp679Glu) n.478+21960A>C n.563+21960A>C c.2055T>G (p.Asp685Glu) | |
4 | g.47936664A>G | CA2911009 | CNGA1,NIPAL1 | c.1818T>C (p.Asp606=) c.1830T>C (p.Asp610=) c.2037T>C (p.Asp679=) n.478+21960A>G n.563+21960A>G c.2055T>C (p.Asp685=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936664A>T | CA356823609 | CNGA1,NIPAL1 | c.1818T>A (p.Asp606Glu) c.1830T>A (p.Asp610Glu) c.2037T>A (p.Asp679Glu) n.478+21960A>T n.563+21960A>T c.2055T>A (p.Asp685Glu) | |
4 | g.47936665T>A | CA356823612 | CNGA1,NIPAL1 | c.1817A>T (p.Asp606Val) c.1829A>T (p.Asp610Val) c.2036A>T (p.Asp679Val) n.478+21961T>A n.563+21961T>A c.2054A>T (p.Asp685Val) | |
4 | g.47936665T>C | CA356823614 | CNGA1,NIPAL1 | c.1817A>G (p.Asp606Gly) c.1829A>G (p.Asp610Gly) c.2036A>G (p.Asp679Gly) n.478+21961T>C n.563+21961T>C c.2054A>G (p.Asp685Gly) | |
4 | g.47936665T>G | CA356823615 | CNGA1,NIPAL1 | c.1817A>C (p.Asp606Ala) c.1829A>C (p.Asp610Ala) c.2036A>C (p.Asp679Ala) n.478+21961T>G n.563+21961T>G c.2054A>C (p.Asp685Ala) | |
4 | g.47936666C>A | CA356823616 | CNGA1,NIPAL1 | c.1816G>T (p.Asp606Tyr) c.1828G>T (p.Asp610Tyr) c.2035G>T (p.Asp679Tyr) n.478+21962C>A n.563+21962C>A c.2053G>T (p.Asp685Tyr) | gnomAD v4 |
4 | g.47936666C>G | CA356823618 | CNGA1,NIPAL1 | c.1816G>C (p.Asp606His) c.1828G>C (p.Asp610His) c.2035G>C (p.Asp679His) n.478+21962C>G n.563+21962C>G c.2053G>C (p.Asp685His) | |
4 | g.47936666C>T | CA356823620 | CNGA1,NIPAL1 | c.1816G>A (p.Asp606Asn) c.1828G>A (p.Asp610Asn) c.2035G>A (p.Asp679Asn) n.478+21962C>T n.563+21962C>T c.2053G>A (p.Asp685Asn) | |
4 | g.47936667C>A | CA439403886 | CNGA1,NIPAL1 | c.1815G>T (p.Leu605=) c.1827G>T (p.Leu609=) c.2034G>T (p.Leu678=) n.478+21963C>A n.563+21963C>A c.2052G>T (p.Leu684=) | |
4 | g.47936667C>G | CA439403887 | CNGA1,NIPAL1 | c.1815G>C (p.Leu605=) c.1827G>C (p.Leu609=) c.2034G>C (p.Leu678=) n.478+21963C>G n.563+21963C>G c.2052G>C (p.Leu684=) | |
4 | g.47936667C>T | CA439403889 | CNGA1,NIPAL1 | c.1815G>A (p.Leu605=) c.1827G>A (p.Leu609=) c.2034G>A (p.Leu678=) n.478+21963C>T n.563+21963C>T c.2052G>A (p.Leu684=) | |
4 | g.47936668A>C | CA356823622 | CNGA1,NIPAL1 | c.1814T>G (p.Leu605Arg) c.1826T>G (p.Leu609Arg) c.2033T>G (p.Leu678Arg) n.478+21964A>C n.563+21964A>C c.2051T>G (p.Leu684Arg) | |
4 | g.47936668A>G | CA356823624 | CNGA1,NIPAL1 | c.1814T>C (p.Leu605Pro) c.1826T>C (p.Leu609Pro) c.2033T>C (p.Leu678Pro) n.478+21964A>G n.563+21964A>G c.2051T>C (p.Leu684Pro) | |
4 | g.47936668A>T | CA356823626 | CNGA1,NIPAL1 | c.1814T>A (p.Leu605Gln) c.1826T>A (p.Leu609Gln) c.2033T>A (p.Leu678Gln) n.478+21964A>T n.563+21964A>T c.2051T>A (p.Leu684Gln) | |
4 | g.47936669G>A | CA439403891 | CNGA1,NIPAL1 | c.1813C>T (p.Leu605=) c.1825C>T (p.Leu609=) c.2032C>T (p.Leu678=) n.478+21965G>A n.563+21965G>A c.2050C>T (p.Leu684=) | COSMIC COSMIC |
4 | g.47936669G>C | CA356823628 | CNGA1,NIPAL1 | c.1813C>G (p.Leu605Val) c.1825C>G (p.Leu609Val) c.2032C>G (p.Leu678Val) n.478+21965G>C n.563+21965G>C c.2050C>G (p.Leu684Val) | |
4 | g.47936669G>T | CA356823630 | CNGA1,NIPAL1 | c.1813C>A (p.Leu605Met) c.1825C>A (p.Leu609Met) c.2032C>A (p.Leu678Met) n.478+21965G>T n.563+21965G>T c.2050C>A (p.Leu684Met) | |
4 | g.47936670T>A | CA439403893 | CNGA1,NIPAL1 | c.1812A>T (p.Leu604=) c.1824A>T (p.Leu608=) c.2031A>T (p.Leu677=) n.478+21966T>A n.563+21966T>A c.2049A>T (p.Leu683=) | |
4 | g.47936670T>C | CA439403894 | CNGA1,NIPAL1 | c.1812A>G (p.Leu604=) c.1824A>G (p.Leu608=) c.2031A>G (p.Leu677=) n.478+21966T>C n.563+21966T>C c.2049A>G (p.Leu683=) | |
4 | g.47936670T>G | CA439403895 | CNGA1,NIPAL1 | c.1812A>C (p.Leu604=) c.1824A>C (p.Leu608=) c.2031A>C (p.Leu677=) n.478+21966T>G n.563+21966T>G c.2049A>C (p.Leu683=) | |
4 | g.47936671A>C | CA356823633 | CNGA1,NIPAL1 | c.1811T>G (p.Leu604Arg) c.1823T>G (p.Leu608Arg) c.2030T>G (p.Leu677Arg) n.478+21967A>C n.563+21967A>C c.2048T>G (p.Leu683Arg) | |
4 | g.47936671A>G | CA356823635 | CNGA1,NIPAL1 | c.1811T>C (p.Leu604Pro) c.1823T>C (p.Leu608Pro) c.2030T>C (p.Leu677Pro) n.478+21967A>G n.563+21967A>G c.2048T>C (p.Leu683Pro) | |
4 | g.47936671A>T | CA356823637 | CNGA1,NIPAL1 | c.1811T>A (p.Leu604Gln) c.1823T>A (p.Leu608Gln) c.2030T>A (p.Leu677Gln) n.478+21967A>T n.563+21967A>T c.2048T>A (p.Leu683Gln) | |
4 | g.47936672G>A | CA439403897 | CNGA1,NIPAL1 | c.1810C>T (p.Leu604=) c.1822C>T (p.Leu608=) c.2029C>T (p.Leu677=) n.478+21968G>A n.563+21968G>A c.2047C>T (p.Leu683=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47936672G>C | CA356823639 | CNGA1,NIPAL1 | c.1810C>G (p.Leu604Val) c.1822C>G (p.Leu608Val) c.2029C>G (p.Leu677Val) n.478+21968G>C n.563+21968G>C c.2047C>G (p.Leu683Val) | |
4 | g.47936672G= | CA1455551665 | CNGA1,NIPAL1 | c.1810C= (p.Leu604=) c.1822C= (p.Leu608=) c.2029C= (p.Leu677=) n.478+21968G= n.563+21968G= c.2047C= (p.Leu683=) | |
4 | g.47936672G>T | CA356823641 | CNGA1,NIPAL1 | c.1810C>A (p.Leu604Ile) c.1822C>A (p.Leu608Ile) c.2029C>A (p.Leu677Ile) n.478+21968G>T n.563+21968G>T c.2047C>A (p.Leu683Ile) | |
4 | g.47936673A>C | CA439403898 | CNGA1,NIPAL1 | c.1809T>G (p.Gly603=) c.1821T>G (p.Gly607=) c.2028T>G (p.Gly676=) n.478+21969A>C n.563+21969A>C c.2046T>G (p.Gly682=) | |
4 | g.47936673A>G | CA439403899 | CNGA1,NIPAL1 | c.1809T>C (p.Gly603=) c.1821T>C (p.Gly607=) c.2028T>C (p.Gly676=) n.478+21969A>G n.563+21969A>G c.2046T>C (p.Gly682=) | |
4 | g.47936673A>T | CA439403900 | CNGA1,NIPAL1 | c.1809T>A (p.Gly603=) c.1821T>A (p.Gly607=) c.2028T>A (p.Gly676=) n.478+21969A>T n.563+21969A>T c.2046T>A (p.Gly682=) | |
4 | g.47936674C>A | CA356823644 | CNGA1,NIPAL1 | c.1808G>T (p.Gly603Val) c.1820G>T (p.Gly607Val) c.2027G>T (p.Gly676Val) n.478+21970C>A n.563+21970C>A c.2045G>T (p.Gly682Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936674C= | CA1455551666 | CNGA1,NIPAL1 | c.1808G= (p.Gly603=) c.1820G= (p.Gly607=) c.2027G= (p.Gly676=) n.478+21970C= n.563+21970C= c.2045G= (p.Gly682=) | |
4 | g.47936674C>G | CA356823646 | CNGA1,NIPAL1 | c.1808G>C (p.Gly603Ala) c.1820G>C (p.Gly607Ala) c.2027G>C (p.Gly676Ala) n.478+21970C>G n.563+21970C>G c.2045G>C (p.Gly682Ala) | |
4 | g.47936674C>T | CA356823647 | CNGA1,NIPAL1 | c.1808G>A (p.Gly603Asp) c.1820G>A (p.Gly607Asp) c.2027G>A (p.Gly676Asp) n.478+21970C>T n.563+21970C>T c.2045G>A (p.Gly682Asp) | gnomAD v4 |
4 | g.47936675C>A | CA356823650 | CNGA1,NIPAL1 | c.1807G>T (p.Gly603Cys) c.1819G>T (p.Gly607Cys) c.2026G>T (p.Gly676Cys) n.478+21971C>A n.563+21971C>A c.2044G>T (p.Gly682Cys) | |
4 | g.47936675C= | CA1455551667 | CNGA1,NIPAL1 | c.1807G= (p.Gly603=) c.1819G= (p.Gly607=) c.2026G= (p.Gly676=) n.478+21971C= n.563+21971C= c.2044G= (p.Gly682=) | |
4 | g.47936675C>G | CA356823652 | CNGA1,NIPAL1 | c.1807G>C (p.Gly603Arg) c.1819G>C (p.Gly607Arg) c.2026G>C (p.Gly676Arg) n.478+21971C>G n.563+21971C>G c.2044G>C (p.Gly682Arg) | dbSNP |
4 | g.47936675C>T | CA356823654 | CNGA1,NIPAL1 | c.1807G>A (p.Gly603Ser) c.1819G>A (p.Gly607Ser) c.2026G>A (p.Gly676Ser) n.478+21971C>T n.563+21971C>T c.2044G>A (p.Gly682Ser) | dbSNP gnomAD v4 |
4 | g.47936676A= | CA1455551668 | CNGA1,NIPAL1 | c.1806T= (p.Asp602=) c.1818T= (p.Asp606=) c.2025T= (p.Asp675=) n.478+21972A= n.563+21972A= c.2043T= (p.Asp681=) | |
4 | g.47936676A>C | CA356823656 | CNGA1,NIPAL1 | c.1806T>G (p.Asp602Glu) c.1818T>G (p.Asp606Glu) c.2025T>G (p.Asp675Glu) n.478+21972A>C n.563+21972A>C c.2043T>G (p.Asp681Glu) | |
4 | g.47936676A>G | CA439403902 | CNGA1,NIPAL1 | c.1806T>C (p.Asp602=) c.1818T>C (p.Asp606=) c.2025T>C (p.Asp675=) n.478+21972A>G n.563+21972A>G c.2043T>C (p.Asp681=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936676A>T | CA356823658 | CNGA1,NIPAL1 | c.1806T>A (p.Asp602Glu) c.1818T>A (p.Asp606Glu) c.2025T>A (p.Asp675Glu) n.478+21972A>T n.563+21972A>T c.2043T>A (p.Asp681Glu) | |
4 | g.47936677T>A | CA356823665 | CNGA1,NIPAL1 | c.1805A>T (p.Asp602Val) c.1817A>T (p.Asp606Val) c.2024A>T (p.Asp675Val) n.478+21973T>A n.563+21973T>A c.2042A>T (p.Asp681Val) | |
4 | g.47936677T>C | CA96688043 | CNGA1,NIPAL1 | c.1805A>G (p.Asp602Gly) c.1817A>G (p.Asp606Gly) c.2024A>G (p.Asp675Gly) n.478+21973T>C n.563+21973T>C c.2042A>G (p.Asp681Gly) | dbSNP gnomAD v4 |
4 | g.47936677T>G | CA356823663 | CNGA1,NIPAL1 | c.1805A>C (p.Asp602Ala) c.1817A>C (p.Asp606Ala) c.2024A>C (p.Asp675Ala) n.478+21973T>G n.563+21973T>G c.2042A>C (p.Asp681Ala) | |
4 | g.47936677T= | CA1455551669 | CNGA1,NIPAL1 | c.1805A= (p.Asp602=) c.1817A= (p.Asp606=) c.2024A= (p.Asp675=) n.478+21973T= n.563+21973T= c.2042A= (p.Asp681=) | |
4 | g.47936678C>A | CA356823668 | CNGA1,NIPAL1 | c.1804G>T (p.Asp602Tyr) c.1816G>T (p.Asp606Tyr) c.2023G>T (p.Asp675Tyr) n.478+21974C>A n.563+21974C>A c.2041G>T (p.Asp681Tyr) | |
4 | g.47936678C>G | CA356823670 | CNGA1,NIPAL1 | c.1804G>C (p.Asp602His) c.1816G>C (p.Asp606His) c.2023G>C (p.Asp675His) n.478+21974C>G n.563+21974C>G c.2041G>C (p.Asp681His) | COSMIC COSMIC |
4 | g.47936678C>T | CA356823671 | CNGA1,NIPAL1 | c.1804G>A (p.Asp602Asn) c.1816G>A (p.Asp606Asn) c.2023G>A (p.Asp675Asn) n.478+21974C>T n.563+21974C>T c.2041G>A (p.Asp681Asn) | |
4 | g.47936679T>A | CA356823674 | CNGA1,NIPAL1 | c.1803A>T (p.Lys601Asn) c.1815A>T (p.Lys605Asn) c.2022A>T (p.Lys674Asn) n.478+21975T>A n.563+21975T>A c.2040A>T (p.Lys680Asn) | |
4 | g.47936679T>C | CA2911010 | CNGA1,NIPAL1 | c.1803A>G (p.Lys601=) c.1815A>G (p.Lys605=) c.2022A>G (p.Lys674=) n.478+21975T>C n.563+21975T>C c.2040A>G (p.Lys680=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936679T>G | CA356823677 | CNGA1,NIPAL1 | c.1803A>C (p.Lys601Asn) c.1815A>C (p.Lys605Asn) c.2022A>C (p.Lys674Asn) n.478+21975T>G n.563+21975T>G c.2040A>C (p.Lys680Asn) | |
4 | g.47936679T= | CA1455551670 | CNGA1,NIPAL1 | c.1803A= (p.Lys601=) c.1815A= (p.Lys605=) c.2022A= (p.Lys674=) n.478+21975T= n.563+21975T= c.2040A= (p.Lys680=) |