Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
4 | g.47936680T>A | CA356823681 | CNGA1,NIPAL1 | c.1802A>T (p.Lys601Ile) c.1814A>T (p.Lys605Ile) c.2021A>T (p.Lys674Ile) n.478+21976T>A n.563+21976T>A c.2039A>T (p.Lys680Ile) | |
4 | g.47936680T>C | CA356823683 | CNGA1,NIPAL1 | c.1802A>G (p.Lys601Arg) c.1814A>G (p.Lys605Arg) c.2021A>G (p.Lys674Arg) n.478+21976T>C n.563+21976T>C c.2039A>G (p.Lys680Arg) | |
4 | g.47936680T>G | CA356823684 | CNGA1,NIPAL1 | c.1802A>C (p.Lys601Thr) c.1814A>C (p.Lys605Thr) c.2021A>C (p.Lys674Thr) n.478+21976T>G n.563+21976T>G c.2039A>C (p.Lys680Thr) | |
4 | g.47936681T>A | CA356823687 | CNGA1,NIPAL1 | c.1801A>T (p.Lys601Ter) c.1813A>T (p.Lys605Ter) c.2020A>T (p.Lys674Ter) n.478+21977T>A n.563+21977T>A c.2038A>T (p.Lys680Ter) | |
4 | g.47936681T>C | CA356823689 | CNGA1,NIPAL1 | c.1801A>G (p.Lys601Glu) c.1813A>G (p.Lys605Glu) c.2020A>G (p.Lys674Glu) n.478+21977T>C n.563+21977T>C c.2038A>G (p.Lys680Glu) | gnomAD v4 |
4 | g.47936681T>G | CA2911011 | CNGA1,NIPAL1 | c.1801A>C (p.Lys601Gln) c.1813A>C (p.Lys605Gln) c.2020A>C (p.Lys674Gln) n.478+21977T>G n.563+21977T>G c.2038A>C (p.Lys680Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936681T= | CA1455551671 | CNGA1,NIPAL1 | c.1801A= (p.Lys601=) c.1813A= (p.Lys605=) c.2020A= (p.Lys674=) n.478+21977T= n.563+21977T= c.2038A= (p.Lys680=) | |
4 | g.47936682C>A | CA356823693 | CNGA1,NIPAL1 | c.1800G>T (p.Met600Ile) c.1812G>T (p.Met604Ile) c.2019G>T (p.Met673Ile) n.478+21978C>A n.563+21978C>A c.2037G>T (p.Met679Ile) | |
4 | g.47936682C>G | CA356823697 | CNGA1,NIPAL1 | c.1800G>C (p.Met600Ile) c.1812G>C (p.Met604Ile) c.2019G>C (p.Met673Ile) n.478+21978C>G n.563+21978C>G c.2037G>C (p.Met679Ile) | |
4 | g.47936682C>T | CA356823695 | CNGA1,NIPAL1 | c.1800G>A (p.Met600Ile) c.1812G>A (p.Met604Ile) c.2019G>A (p.Met673Ile) n.478+21978C>T n.563+21978C>T c.2037G>A (p.Met679Ile) | |
4 | g.47936683A>C | CA356823699 | CNGA1,NIPAL1 | c.1799T>G (p.Met600Arg) c.1811T>G (p.Met604Arg) c.2018T>G (p.Met673Arg) n.478+21979A>C n.563+21979A>C c.2036T>G (p.Met679Arg) | |
4 | g.47936683A>G | CA356823702 | CNGA1,NIPAL1 | c.1799T>C (p.Met600Thr) c.1811T>C (p.Met604Thr) c.2018T>C (p.Met673Thr) n.478+21979A>G n.563+21979A>G c.2036T>C (p.Met679Thr) | |
4 | g.47936683A>T | CA356823704 | CNGA1,NIPAL1 | c.1799T>A (p.Met600Lys) c.1811T>A (p.Met604Lys) c.2018T>A (p.Met673Lys) n.478+21979A>T n.563+21979A>T c.2036T>A (p.Met679Lys) | |
4 | g.47936684T>A | CA356823705 | CNGA1,NIPAL1 | c.1798A>T (p.Met600Leu) c.1810A>T (p.Met604Leu) c.2017A>T (p.Met673Leu) n.478+21980T>A n.563+21980T>A c.2035A>T (p.Met679Leu) | |
4 | g.47936684T>C | CA356823706 | CNGA1,NIPAL1 | c.1798A>G (p.Met600Val) c.1810A>G (p.Met604Val) c.2017A>G (p.Met673Val) n.478+21980T>C n.563+21980T>C c.2035A>G (p.Met679Val) | |
4 | g.47936684T>G | CA356823707 | CNGA1,NIPAL1 | c.1798A>C (p.Met600Leu) c.1810A>C (p.Met604Leu) c.2017A>C (p.Met673Leu) n.478+21980T>G n.563+21980T>G c.2035A>C (p.Met679Leu) | |
4 | g.47936685T>A | CA356823709 | CNGA1,NIPAL1 | c.1797A>T (p.Leu599Phe) c.1809A>T (p.Leu603Phe) c.2016A>T (p.Leu672Phe) n.478+21981T>A n.563+21981T>A c.2034A>T (p.Leu678Phe) | |
4 | g.47936685T>C | CA439403913 | CNGA1,NIPAL1 | c.1797A>G (p.Leu599=) c.1809A>G (p.Leu603=) c.2016A>G (p.Leu672=) n.478+21981T>C n.563+21981T>C c.2034A>G (p.Leu678=) | |
4 | g.47936685T>G | CA356823708 | CNGA1,NIPAL1 | c.1797A>C (p.Leu599Phe) c.1809A>C (p.Leu603Phe) c.2016A>C (p.Leu672Phe) n.478+21981T>G n.563+21981T>G c.2034A>C (p.Leu678Phe) | |
4 | g.47936686A>C | CA356823710 | CNGA1,NIPAL1 | c.1796T>G (p.Leu599Ter) c.1808T>G (p.Leu603Ter) c.2015T>G (p.Leu672Ter) n.478+21982A>C n.563+21982A>C c.2033T>G (p.Leu678Ter) | |
4 | g.47936686A>G | CA356823711 | CNGA1,NIPAL1 | c.1796T>C (p.Leu599Ser) c.1808T>C (p.Leu603Ser) c.2015T>C (p.Leu672Ser) n.478+21982A>G n.563+21982A>G c.2033T>C (p.Leu678Ser) | |
4 | g.47936686A>T | CA356823712 | CNGA1,NIPAL1 | c.1796T>A (p.Leu599Ter) c.1808T>A (p.Leu603Ter) c.2015T>A (p.Leu672Ter) n.478+21982A>T n.563+21982A>T c.2033T>A (p.Leu678Ter) | |
4 | g.47936687A>C | CA356823713 | CNGA1,NIPAL1 | c.1795T>G (p.Leu599Val) c.1807T>G (p.Leu603Val) c.2014T>G (p.Leu672Val) n.478+21983A>C n.563+21983A>C c.2032T>G (p.Leu678Val) | COSMIC COSMIC |
4 | g.47936687A>G | CA439403914 | CNGA1,NIPAL1 | c.1795T>C (p.Leu599=) c.1807T>C (p.Leu603=) c.2014T>C (p.Leu672=) n.478+21983A>G n.563+21983A>G c.2032T>C (p.Leu678=) | |
4 | g.47936687A>T | CA356823714 | CNGA1,NIPAL1 | c.1795T>A (p.Leu599Ile) c.1807T>A (p.Leu603Ile) c.2014T>A (p.Leu672Ile) n.478+21983A>T n.563+21983A>T c.2032T>A (p.Leu678Ile) | |
4 | g.47936688A= | CA1455551672 | CNGA1,NIPAL1 | c.1794T= (p.Ile598=) c.1806T= (p.Ile602=) c.2013T= (p.Ile671=) n.478+21984A= n.563+21984A= c.2031T= (p.Ile677=) | |
4 | g.47936688A>C | CA356823715 | CNGA1,NIPAL1 | c.1794T>G (p.Ile598Met) c.1806T>G (p.Ile602Met) c.2013T>G (p.Ile671Met) n.478+21984A>C n.563+21984A>C c.2031T>G (p.Ile677Met) | |
4 | g.47936688A>G | CA439403916 | CNGA1,NIPAL1 | c.1794T>C (p.Ile598=) c.1806T>C (p.Ile602=) c.2013T>C (p.Ile671=) n.478+21984A>G n.563+21984A>G c.2031T>C (p.Ile677=) | dbSNP gnomAD v4 |
4 | g.47936688A>T | CA439403915 | CNGA1,NIPAL1 | c.1794T>A (p.Ile598=) c.1806T>A (p.Ile602=) c.2013T>A (p.Ile671=) n.478+21984A>T n.563+21984A>T c.2031T>A (p.Ile677=) | |
4 | g.47936689A>C | CA356823718 | CNGA1,NIPAL1 | c.1793T>G (p.Ile598Ser) c.1805T>G (p.Ile602Ser) c.2012T>G (p.Ile671Ser) n.478+21985A>C n.563+21985A>C c.2030T>G (p.Ile677Ser) | |
4 | g.47936689A>G | CA356823716 | CNGA1,NIPAL1 | c.1793T>C (p.Ile598Thr) c.1805T>C (p.Ile602Thr) c.2012T>C (p.Ile671Thr) n.478+21985A>G n.563+21985A>G c.2030T>C (p.Ile677Thr) | COSMIC |
4 | g.47936689A>T | CA356823717 | CNGA1,NIPAL1 | c.1793T>A (p.Ile598Asn) c.1805T>A (p.Ile602Asn) c.2012T>A (p.Ile671Asn) n.478+21985A>T n.563+21985A>T c.2030T>A (p.Ile677Asn) | |
4 | g.47936690T>A | CA356823719 | CNGA1,NIPAL1 | c.1792A>T (p.Ile598Phe) c.1804A>T (p.Ile602Phe) c.2011A>T (p.Ile671Phe) n.478+21986T>A n.563+21986T>A c.2029A>T (p.Ile677Phe) | |
4 | g.47936690T>C | CA356823720 | CNGA1,NIPAL1 | c.1792A>G (p.Ile598Val) c.1804A>G (p.Ile602Val) c.2011A>G (p.Ile671Val) n.478+21986T>C n.563+21986T>C c.2029A>G (p.Ile677Val) | |
4 | g.47936690T>G | CA356823721 | CNGA1,NIPAL1 | c.1792A>C (p.Ile598Leu) c.1804A>C (p.Ile602Leu) c.2011A>C (p.Ile671Leu) n.478+21986T>G n.563+21986T>G c.2029A>C (p.Ile677Leu) | |
4 | g.47936691C>A | CA356823722 | CNGA1,NIPAL1 | c.1791G>T (p.Gln597His) c.1803G>T (p.Gln601His) c.2010G>T (p.Gln670His) n.478+21987C>A n.563+21987C>A c.2028G>T (p.Gln676His) | |
4 | g.47936691C>G | CA356823723 | CNGA1,NIPAL1 | c.1791G>C (p.Gln597His) c.1803G>C (p.Gln601His) c.2010G>C (p.Gln670His) n.478+21987C>G n.563+21987C>G c.2028G>C (p.Gln676His) | |
4 | g.47936691C>T | CA439403920 | CNGA1,NIPAL1 | c.1791G>A (p.Gln597=) c.1803G>A (p.Gln601=) c.2010G>A (p.Gln670=) n.478+21987C>T n.563+21987C>T c.2028G>A (p.Gln676=) | |
4 | g.47936692T>A | CA356823724 | CNGA1,NIPAL1 | c.1790A>T (p.Gln597Leu) c.1802A>T (p.Gln601Leu) c.2009A>T (p.Gln670Leu) n.478+21988T>A n.563+21988T>A c.2027A>T (p.Gln676Leu) | |
4 | g.47936692T>C | CA356823725 | CNGA1,NIPAL1 | c.1790A>G (p.Gln597Arg) c.1802A>G (p.Gln601Arg) c.2009A>G (p.Gln670Arg) n.478+21988T>C n.563+21988T>C c.2027A>G (p.Gln676Arg) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47936692T>G | CA356823726 | CNGA1,NIPAL1 | c.1790A>C (p.Gln597Pro) c.1802A>C (p.Gln601Pro) c.2009A>C (p.Gln670Pro) n.478+21988T>G n.563+21988T>G c.2027A>C (p.Gln676Pro) | |
4 | g.47936693G>A | CA356823727 | CNGA1,NIPAL1 | c.1789C>T (p.Gln597Ter) c.1801C>T (p.Gln601Ter) c.2008C>T (p.Gln670Ter) n.478+21989G>A n.563+21989G>A c.2026C>T (p.Gln676Ter) | gnomAD v4 |
4 | g.47936693G>C | CA356823728 | CNGA1,NIPAL1 | c.1789C>G (p.Gln597Glu) c.1801C>G (p.Gln601Glu) c.2008C>G (p.Gln670Glu) n.478+21989G>C n.563+21989G>C c.2026C>G (p.Gln676Glu) | |
4 | g.47936693G>T | CA356823729 | CNGA1,NIPAL1 | c.1789C>A (p.Gln597Lys) c.1801C>A (p.Gln601Lys) c.2008C>A (p.Gln670Lys) n.478+21989G>T n.563+21989G>T c.2026C>A (p.Gln676Lys) | gnomAD v4 |
4 | g.47936694C>A | CA356823730 | CNGA1,NIPAL1 | c.1788G>T (p.Lys596Asn) c.1800G>T (p.Lys600Asn) c.2007G>T (p.Lys669Asn) n.478+21990C>A n.563+21990C>A c.2025G>T (p.Lys675Asn) | |
4 | g.47936694C>G | CA356823731 | CNGA1,NIPAL1 | c.1788G>C (p.Lys596Asn) c.1800G>C (p.Lys600Asn) c.2007G>C (p.Lys669Asn) n.478+21990C>G n.563+21990C>G c.2025G>C (p.Lys675Asn) | |
4 | g.47936694C>T | CA439403923 | CNGA1,NIPAL1 | c.1788G>A (p.Lys596=) c.1800G>A (p.Lys600=) c.2007G>A (p.Lys669=) n.478+21990C>T n.563+21990C>T c.2025G>A (p.Lys675=) | |
4 | g.47936695T>A | CA356823733 | CNGA1,NIPAL1 | c.1787A>T (p.Lys596Met) c.1799A>T (p.Lys600Met) c.2006A>T (p.Lys669Met) n.478+21991T>A n.563+21991T>A c.2024A>T (p.Lys675Met) | |
4 | g.47936695T>C | CA2911012 | CNGA1,NIPAL1 | c.1787A>G (p.Lys596Arg) c.1799A>G (p.Lys600Arg) c.2006A>G (p.Lys669Arg) n.478+21991T>C n.563+21991T>C c.2024A>G (p.Lys675Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.47936695T>G | CA356823732 | CNGA1,NIPAL1 | c.1787A>C (p.Lys596Thr) c.1799A>C (p.Lys600Thr) c.2006A>C (p.Lys669Thr) n.478+21991T>G n.563+21991T>G c.2024A>C (p.Lys675Thr) | |
4 | g.47936695T= | CA1455551673 | CNGA1,NIPAL1 | c.1787A= (p.Lys596=) c.1799A= (p.Lys600=) c.2006A= (p.Lys669=) n.478+21991T= n.563+21991T= c.2024A= (p.Lys675=) | |
4 | g.47936696T>A | CA356823734 | CNGA1,NIPAL1 | c.1786A>T (p.Lys596Ter) c.1798A>T (p.Lys600Ter) c.2005A>T (p.Lys669Ter) n.478+21992T>A n.563+21992T>A c.2023A>T (p.Lys675Ter) | |
4 | g.47936696T>C | CA356823735 | CNGA1,NIPAL1 | c.1786A>G (p.Lys596Glu) c.1798A>G (p.Lys600Glu) c.2005A>G (p.Lys669Glu) n.478+21992T>C n.563+21992T>C c.2023A>G (p.Lys675Glu) | gnomAD v4 |
4 | g.47936696T>G | CA356823736 | CNGA1,NIPAL1 | c.1786A>C (p.Lys596Gln) c.1798A>C (p.Lys600Gln) c.2005A>C (p.Lys669Gln) n.478+21992T>G n.563+21992T>G c.2023A>C (p.Lys675Gln) | |
4 | g.47936697C>A | CA439403926 | CNGA1,NIPAL1 | c.1785G>T (p.Gly595=) c.1797G>T (p.Gly599=) c.2004G>T (p.Gly668=) n.478+21993C>A n.563+21993C>A c.2022G>T (p.Gly674=) | |
4 | g.47936697C= | CA1455551674 | CNGA1,NIPAL1 | c.1785G= (p.Gly595=) c.1797G= (p.Gly599=) c.2004G= (p.Gly668=) n.478+21993C= n.563+21993C= c.2022G= (p.Gly674=) | |
4 | g.47936697C>G | CA439403927 | CNGA1,NIPAL1 | c.1785G>C (p.Gly595=) c.1797G>C (p.Gly599=) c.2004G>C (p.Gly668=) n.478+21993C>G n.563+21993C>G c.2022G>C (p.Gly674=) | |
4 | g.47936697C>T | CA439403929 | CNGA1,NIPAL1 | c.1785G>A (p.Gly595=) c.1797G>A (p.Gly599=) c.2004G>A (p.Gly668=) n.478+21993C>T n.563+21993C>T c.2022G>A (p.Gly674=) | dbSNP |
4 | g.47936698C>A | CA356823737 | CNGA1,NIPAL1 | c.1784G>T (p.Gly595Val) c.1796G>T (p.Gly599Val) c.2003G>T (p.Gly668Val) n.478+21994C>A n.563+21994C>A c.2021G>T (p.Gly674Val) | |
4 | g.47936698C>G | CA356823738 | CNGA1,NIPAL1 | c.1784G>C (p.Gly595Ala) c.1796G>C (p.Gly599Ala) c.2003G>C (p.Gly668Ala) n.478+21994C>G n.563+21994C>G c.2021G>C (p.Gly674Ala) | |
4 | g.47936698C>T | CA356823739 | CNGA1,NIPAL1 | c.1784G>A (p.Gly595Glu) c.1796G>A (p.Gly599Glu) c.2003G>A (p.Gly668Glu) n.478+21994C>T n.563+21994C>T c.2021G>A (p.Gly674Glu) | |
4 | g.47936698_47936699delinsAT | CA645531848 | CNGA1,NIPAL1 | c.1783_1784delinsAT (p.Gly595Met) c.1795_1796delinsAT (p.Gly599Met) c.2002_2003delinsAT (p.Gly668Met) n.478+21994_478+21995delinsAT n.563+21994_563+21995delinsAT c.2020_2021delinsAT (p.Gly674Met) | COSMIC COSMIC |
4 | g.47936699C>A | CA356823740 | CNGA1,NIPAL1 | c.1783G>T (p.Gly595Trp) c.1795G>T (p.Gly599Trp) c.2002G>T (p.Gly668Trp) n.478+21995C>A n.563+21995C>A c.2020G>T (p.Gly674Trp) | |
4 | g.47936699C>G | CA356823741 | CNGA1,NIPAL1 | c.1783G>C (p.Gly595Arg) c.1795G>C (p.Gly599Arg) c.2002G>C (p.Gly668Arg) n.478+21995C>G n.563+21995C>G c.2020G>C (p.Gly674Arg) | |
4 | g.47936699C>T | CA356823742 | CNGA1,NIPAL1 | c.1783G>A (p.Gly595Arg) c.1795G>A (p.Gly599Arg) c.2002G>A (p.Gly668Arg) n.478+21995C>T n.563+21995C>T c.2020G>A (p.Gly674Arg) | COSMIC |
4 | g.47936700T>A | CA356823743 | CNGA1,NIPAL1 | c.1782A>T (p.Lys594Asn) c.1794A>T (p.Lys598Asn) c.2001A>T (p.Lys667Asn) n.478+21996T>A n.563+21996T>A c.2019A>T (p.Lys673Asn) | |
4 | g.47936700T>C | CA2911013 | CNGA1,NIPAL1 | c.1782A>G (p.Lys594=) c.1794A>G (p.Lys598=) c.2001A>G (p.Lys667=) n.478+21996T>C n.563+21996T>C c.2019A>G (p.Lys673=) | dbSNP ExAC gnomAD v2 |
4 | g.47936700T>G | CA356823744 | CNGA1,NIPAL1 | c.1782A>C (p.Lys594Asn) c.1794A>C (p.Lys598Asn) c.2001A>C (p.Lys667Asn) n.478+21996T>G n.563+21996T>G c.2019A>C (p.Lys673Asn) | |
4 | g.47936700T= | CA1455551675 | CNGA1,NIPAL1 | c.1782A= (p.Lys594=) c.1794A= (p.Lys598=) c.2001A= (p.Lys667=) n.478+21996T= n.563+21996T= c.2019A= (p.Lys673=) | |
4 | g.47936701T>A | CA356823749 | CNGA1,NIPAL1 | c.1781A>T (p.Lys594Ile) c.1793A>T (p.Lys598Ile) c.2000A>T (p.Lys667Ile) n.478+21997T>A n.563+21997T>A c.2018A>T (p.Lys673Ile) | |
4 | g.47936701T>C | CA356823747 | CNGA1,NIPAL1 | c.1781A>G (p.Lys594Arg) c.1793A>G (p.Lys598Arg) c.2000A>G (p.Lys667Arg) n.478+21997T>C n.563+21997T>C c.2018A>G (p.Lys673Arg) | |
4 | g.47936701T>G | CA2911014 | CNGA1,NIPAL1 | c.1781A>C (p.Lys594Thr) c.1793A>C (p.Lys598Thr) c.2000A>C (p.Lys667Thr) n.478+21997T>G n.563+21997T>G c.2018A>C (p.Lys673Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936701T= | CA1455551676 | CNGA1,NIPAL1 | c.1781A= (p.Lys594=) c.1793A= (p.Lys598=) c.2000A= (p.Lys667=) n.478+21997T= n.563+21997T= c.2018A= (p.Lys673=) | |
4 | g.47936702T>A | CA356823751 | CNGA1,NIPAL1 | c.1780A>T (p.Lys594Ter) c.1792A>T (p.Lys598Ter) c.1999A>T (p.Lys667Ter) n.478+21998T>A n.563+21998T>A c.2017A>T (p.Lys673Ter) | |
4 | g.47936702T>C | CA356823753 | CNGA1,NIPAL1 | c.1780A>G (p.Lys594Glu) c.1792A>G (p.Lys598Glu) c.1999A>G (p.Lys667Glu) n.478+21998T>C n.563+21998T>C c.2017A>G (p.Lys673Glu) | |
4 | g.47936702T>G | CA356823755 | CNGA1,NIPAL1 | c.1780A>C (p.Lys594Gln) c.1792A>C (p.Lys598Gln) c.1999A>C (p.Lys667Gln) n.478+21998T>G n.563+21998T>G c.2017A>C (p.Lys673Gln) | |
4 | g.47936703C>A | CA356823757 | CNGA1,NIPAL1 | c.1779G>T (p.Glu593Asp) c.1791G>T (p.Glu597Asp) c.1998G>T (p.Glu666Asp) n.478+21999C>A n.563+21999C>A c.2016G>T (p.Glu672Asp) | |
4 | g.47936703C= | CA1455551677 | CNGA1,NIPAL1 | c.1779G= (p.Glu593=) c.1791G= (p.Glu597=) c.1998G= (p.Glu666=) n.478+21999C= n.563+21999C= c.2016G= (p.Glu672=) | |
4 | g.47936703C>G | CA356823758 | CNGA1,NIPAL1 | c.1779G>C (p.Glu593Asp) c.1791G>C (p.Glu597Asp) c.1998G>C (p.Glu666Asp) n.478+21999C>G n.563+21999C>G c.2016G>C (p.Glu672Asp) | |
4 | g.47936703C>T | CA439403933 | CNGA1,NIPAL1 | c.1779G>A (p.Glu593=) c.1791G>A (p.Glu597=) c.1998G>A (p.Glu666=) n.478+21999C>T n.563+21999C>T c.2016G>A (p.Glu672=) | ClinVar dbSNP |
4 | g.47936704T>A | CA356823760 | CNGA1,NIPAL1 | c.1778A>T (p.Glu593Val) c.1790A>T (p.Glu597Val) c.1997A>T (p.Glu666Val) n.478+22000T>A n.563+22000T>A c.2015A>T (p.Glu672Val) | |
4 | g.47936704T>C | CA356823762 | CNGA1,NIPAL1 | c.1778A>G (p.Glu593Gly) c.1790A>G (p.Glu597Gly) c.1997A>G (p.Glu666Gly) n.478+22000T>C n.563+22000T>C c.2015A>G (p.Glu672Gly) | |
4 | g.47936704T>G | CA356823764 | CNGA1,NIPAL1 | c.1778A>C (p.Glu593Ala) c.1790A>C (p.Glu597Ala) c.1997A>C (p.Glu666Ala) n.478+22000T>G n.563+22000T>G c.2015A>C (p.Glu672Ala) | |
4 | g.47936705C>A | CA356823766 | CNGA1,NIPAL1 | c.1777G>T (p.Glu593Ter) c.1789G>T (p.Glu597Ter) c.1996G>T (p.Glu666Ter) n.478+22001C>A n.563+22001C>A c.2014G>T (p.Glu672Ter) | |
4 | g.47936705C>G | CA356823768 | CNGA1,NIPAL1 | c.1777G>C (p.Glu593Gln) c.1789G>C (p.Glu597Gln) c.1996G>C (p.Glu666Gln) n.478+22001C>G n.563+22001C>G c.2014G>C (p.Glu672Gln) | |
4 | g.47936705C>T | CA356823770 | CNGA1,NIPAL1 | c.1777G>A (p.Glu593Lys) c.1789G>A (p.Glu597Lys) c.1996G>A (p.Glu666Lys) n.478+22001C>T n.563+22001C>T c.2014G>A (p.Glu672Lys) | |
4 | g.47936706T>A | CA356823773 | CNGA1,NIPAL1 | c.1776A>T (p.Glu592Asp) c.1788A>T (p.Glu596Asp) c.1995A>T (p.Glu665Asp) n.478+22002T>A n.563+22002T>A c.2013A>T (p.Glu671Asp) | |
4 | g.47936706T>C | CA439403935 | CNGA1,NIPAL1 | c.1776A>G (p.Glu592=) c.1788A>G (p.Glu596=) c.1995A>G (p.Glu665=) n.478+22002T>C n.563+22002T>C c.2013A>G (p.Glu671=) | |
4 | g.47936706T>G | CA356823775 | CNGA1,NIPAL1 | c.1776A>C (p.Glu592Asp) c.1788A>C (p.Glu596Asp) c.1995A>C (p.Glu665Asp) n.478+22002T>G n.563+22002T>G c.2013A>C (p.Glu671Asp) | |
4 | g.47936707T>A | CA356823781 | CNGA1,NIPAL1 | c.1775A>T (p.Glu592Val) c.1787A>T (p.Glu596Val) c.1994A>T (p.Glu665Val) n.478+22003T>A n.563+22003T>A c.2012A>T (p.Glu671Val) | |
4 | g.47936707T>C | CA356823784 | CNGA1,NIPAL1 | c.1775A>G (p.Glu592Gly) c.1787A>G (p.Glu596Gly) c.1994A>G (p.Glu665Gly) n.478+22003T>C n.563+22003T>C c.2012A>G (p.Glu671Gly) | |
4 | g.47936707T>G | CA356823778 | CNGA1,NIPAL1 | c.1775A>C (p.Glu592Ala) c.1787A>C (p.Glu596Ala) c.1994A>C (p.Glu665Ala) n.478+22003T>G n.563+22003T>G c.2012A>C (p.Glu671Ala) | |
4 | g.47936708C>A | CA356823787 | CNGA1,NIPAL1 | c.1774G>T (p.Glu592Ter) c.1786G>T (p.Glu596Ter) c.1993G>T (p.Glu665Ter) n.478+22004C>A n.563+22004C>A c.2011G>T (p.Glu671Ter) | |
4 | g.47936708C>G | CA356823793 | CNGA1,NIPAL1 | c.1774G>C (p.Glu592Gln) c.1786G>C (p.Glu596Gln) c.1993G>C (p.Glu665Gln) n.478+22004C>G n.563+22004C>G c.2011G>C (p.Glu671Gln) | |
4 | g.47936708C>T | CA356823791 | CNGA1,NIPAL1 | c.1774G>A (p.Glu592Lys) c.1786G>A (p.Glu596Lys) c.1993G>A (p.Glu665Lys) n.478+22004C>T n.563+22004C>T c.2011G>A (p.Glu671Lys) | |
4 | g.47936709C>A | CA439403937 | CNGA1,NIPAL1 | c.1773G>T (p.Leu591=) c.1785G>T (p.Leu595=) c.1992G>T (p.Leu664=) n.478+22005C>A n.563+22005C>A c.2010G>T (p.Leu670=) | |
4 | g.47936709C= | CA1455551678 | CNGA1,NIPAL1 | c.1773G= (p.Leu591=) c.1785G= (p.Leu595=) c.1992G= (p.Leu664=) n.478+22005C= n.563+22005C= c.2010G= (p.Leu670=) | |
4 | g.47936709C>G | CA439403940 | CNGA1,NIPAL1 | c.1773G>C (p.Leu591=) c.1785G>C (p.Leu595=) c.1992G>C (p.Leu664=) n.478+22005C>G n.563+22005C>G c.2010G>C (p.Leu670=) | |
4 | g.47936709C>T | CA96688072 | CNGA1,NIPAL1 | c.1773G>A (p.Leu591=) c.1785G>A (p.Leu595=) c.1992G>A (p.Leu664=) n.478+22005C>T n.563+22005C>T c.2010G>A (p.Leu670=) | dbSNP |
4 | g.47936710A>C | CA356823799 | CNGA1,NIPAL1 | c.1772T>G (p.Leu591Arg) c.1784T>G (p.Leu595Arg) c.1991T>G (p.Leu664Arg) n.478+22006A>C n.563+22006A>C c.2009T>G (p.Leu670Arg) | |
4 | g.47936710A>G | CA356823802 | CNGA1,NIPAL1 | c.1772T>C (p.Leu591Pro) c.1784T>C (p.Leu595Pro) c.1991T>C (p.Leu664Pro) n.478+22006A>G n.563+22006A>G c.2009T>C (p.Leu670Pro) | |
4 | g.47936710A>T | CA356823805 | CNGA1,NIPAL1 | c.1772T>A (p.Leu591Gln) c.1784T>A (p.Leu595Gln) c.1991T>A (p.Leu664Gln) n.478+22006A>T n.563+22006A>T c.2009T>A (p.Leu670Gln) | |
4 | g.47936711G>A | CA439403941 | CNGA1,NIPAL1 | c.1771C>T (p.Leu591=) c.1783C>T (p.Leu595=) c.1990C>T (p.Leu664=) n.478+22007G>A n.563+22007G>A c.2008C>T (p.Leu670=) | |
4 | g.47936711G>C | CA356823808 | CNGA1,NIPAL1 | c.1771C>G (p.Leu591Val) c.1783C>G (p.Leu595Val) c.1990C>G (p.Leu664Val) n.478+22007G>C n.563+22007G>C c.2008C>G (p.Leu670Val) | |
4 | g.47936711G>T | CA356823810 | CNGA1,NIPAL1 | c.1771C>A (p.Leu591Met) c.1783C>A (p.Leu595Met) c.1990C>A (p.Leu664Met) n.478+22007G>T n.563+22007G>T c.2008C>A (p.Leu670Met) | |
4 | g.47936712C>A | CA2911015 | CNGA1,NIPAL1 | c.1770G>T (p.Met590Ile) c.1782G>T (p.Met594Ile) c.1989G>T (p.Met663Ile) n.478+22008C>A n.563+22008C>A c.2007G>T (p.Met669Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936712C= | CA1455551679 | CNGA1,NIPAL1 | c.1770G= (p.Met590=) c.1782G= (p.Met594=) c.1989G= (p.Met663=) n.478+22008C= n.563+22008C= c.2007G= (p.Met669=) | |
4 | g.47936712C>G | CA356823817 | CNGA1,NIPAL1 | c.1770G>C (p.Met590Ile) c.1782G>C (p.Met594Ile) c.1989G>C (p.Met663Ile) n.478+22008C>G n.563+22008C>G c.2007G>C (p.Met669Ile) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936712C>T | CA356823821 | CNGA1,NIPAL1 | c.1770G>A (p.Met590Ile) c.1782G>A (p.Met594Ile) c.1989G>A (p.Met663Ile) n.478+22008C>T n.563+22008C>T c.2007G>A (p.Met669Ile) | |
4 | g.47936713A= | CA1455551680 | CNGA1,NIPAL1 | c.1769T= (p.Met590=) c.1781T= (p.Met594=) c.1988T= (p.Met663=) n.478+22009A= n.563+22009A= c.2006T= (p.Met669=) | |
4 | g.47936713A>C | CA2911017 | CNGA1,NIPAL1 | c.1769T>G (p.Met590Arg) c.1781T>G (p.Met594Arg) c.1988T>G (p.Met663Arg) n.478+22009A>C n.563+22009A>C c.2006T>G (p.Met669Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936713A>G | CA2911016 | CNGA1,NIPAL1 | c.1769T>C (p.Met590Thr) c.1781T>C (p.Met594Thr) c.1988T>C (p.Met663Thr) n.478+22009A>G n.563+22009A>G c.2006T>C (p.Met669Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936713A>T | CA356823828 | CNGA1,NIPAL1 | c.1769T>A (p.Met590Lys) c.1781T>A (p.Met594Lys) c.1988T>A (p.Met663Lys) n.478+22009A>T n.563+22009A>T c.2006T>A (p.Met669Lys) | |
4 | g.47936714T>A | CA356823833 | CNGA1,NIPAL1 | c.1768A>T (p.Met590Leu) c.1780A>T (p.Met594Leu) c.1987A>T (p.Met663Leu) n.478+22010T>A n.563+22010T>A c.2005A>T (p.Met669Leu) | |
4 | g.47936714T>C | CA2911018 | CNGA1,NIPAL1 | c.1768A>G (p.Met590Val) c.1780A>G (p.Met594Val) c.1987A>G (p.Met663Val) n.478+22010T>C n.563+22010T>C c.2005A>G (p.Met669Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936714T>G | CA356823835 | CNGA1,NIPAL1 | c.1768A>C (p.Met590Leu) c.1780A>C (p.Met594Leu) c.1987A>C (p.Met663Leu) n.478+22010T>G n.563+22010T>G c.2005A>C (p.Met669Leu) | |
4 | g.47936714T= | CA1455551681 | CNGA1,NIPAL1 | c.1768A= (p.Met590=) c.1780A= (p.Met594=) c.1987A= (p.Met663=) n.478+22010T= n.563+22010T= c.2005A= (p.Met669=) | |
4 | g.47936715A= | CA1455551682 | CNGA1,NIPAL1 | c.1767T= (p.Thr589=) c.1779T= (p.Thr593=) c.1986T= (p.Thr662=) n.478+22011A= n.563+22011A= c.2004T= (p.Thr668=) | |
4 | g.47936715A>C | CA439403942 | CNGA1,NIPAL1 | c.1767T>G (p.Thr589=) c.1779T>G (p.Thr593=) c.1986T>G (p.Thr662=) n.478+22011A>C n.563+22011A>C c.2004T>G (p.Thr668=) | |
4 | g.47936715A>G | CA2911019 | CNGA1,NIPAL1 | c.1767T>C (p.Thr589=) c.1779T>C (p.Thr593=) c.1986T>C (p.Thr662=) n.478+22011A>G n.563+22011A>G c.2004T>C (p.Thr668=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936715A>T | CA439403943 | CNGA1,NIPAL1 | c.1767T>A (p.Thr589=) c.1779T>A (p.Thr593=) c.1986T>A (p.Thr662=) n.478+22011A>T n.563+22011A>T c.2004T>A (p.Thr668=) | |
4 | g.47936716G>A | CA356823844 | CNGA1,NIPAL1 | c.1766C>T (p.Thr589Ile) c.1778C>T (p.Thr593Ile) c.1985C>T (p.Thr662Ile) n.478+22012G>A n.563+22012G>A c.2003C>T (p.Thr668Ile) | |
4 | g.47936716G>C | CA356823845 | CNGA1,NIPAL1 | c.1766C>G (p.Thr589Ser) c.1778C>G (p.Thr593Ser) c.1985C>G (p.Thr662Ser) n.478+22012G>C n.563+22012G>C c.2003C>G (p.Thr668Ser) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936716G= | CA1455551683 | CNGA1,NIPAL1 | c.1766C= (p.Thr589=) c.1778C= (p.Thr593=) c.1985C= (p.Thr662=) n.478+22012G= n.563+22012G= c.2003C= (p.Thr668=) | |
4 | g.47936716G>T | CA356823849 | CNGA1,NIPAL1 | c.1766C>A (p.Thr589Asn) c.1778C>A (p.Thr593Asn) c.1985C>A (p.Thr662Asn) n.478+22012G>T n.563+22012G>T c.2003C>A (p.Thr668Asn) | |
4 | g.47936717T>A | CA356823853 | CNGA1,NIPAL1 | c.1765A>T (p.Thr589Ser) c.1777A>T (p.Thr593Ser) c.1984A>T (p.Thr662Ser) n.478+22013T>A n.563+22013T>A c.2002A>T (p.Thr668Ser) | |
4 | g.47936717T>C | CA356823857 | CNGA1,NIPAL1 | c.1765A>G (p.Thr589Ala) c.1777A>G (p.Thr593Ala) c.1984A>G (p.Thr662Ala) n.478+22013T>C n.563+22013T>C c.2002A>G (p.Thr668Ala) | |
4 | g.47936717T>G | CA356823859 | CNGA1,NIPAL1 | c.1765A>C (p.Thr589Pro) c.1777A>C (p.Thr593Pro) c.1984A>C (p.Thr662Pro) n.478+22013T>G n.563+22013T>G c.2002A>C (p.Thr668Pro) | |
4 | g.47936718T>A | CA356823864 | CNGA1,NIPAL1 | c.1764A>T (p.Lys588Asn) c.1776A>T (p.Lys592Asn) c.1983A>T (p.Lys661Asn) n.478+22014T>A n.563+22014T>A c.2001A>T (p.Lys667Asn) | |
4 | g.47936718T>C | CA439403944 | CNGA1,NIPAL1 | c.1764A>G (p.Lys588=) c.1776A>G (p.Lys592=) c.1983A>G (p.Lys661=) n.478+22014T>C n.563+22014T>C c.2001A>G (p.Lys667=) | |
4 | g.47936718T>G | CA356823866 | CNGA1,NIPAL1 | c.1764A>C (p.Lys588Asn) c.1776A>C (p.Lys592Asn) c.1983A>C (p.Lys661Asn) n.478+22014T>G n.563+22014T>G c.2001A>C (p.Lys667Asn) | COSMIC |
4 | g.47936719T>A | CA356823874 | CNGA1,NIPAL1 | c.1763A>T (p.Lys588Ile) c.1775A>T (p.Lys592Ile) c.1982A>T (p.Lys661Ile) n.478+22015T>A n.563+22015T>A c.2000A>T (p.Lys667Ile) | |
4 | g.47936719T>C | CA96688117 | CNGA1,NIPAL1 | c.1763A>G (p.Lys588Arg) c.1775A>G (p.Lys592Arg) c.1982A>G (p.Lys661Arg) n.478+22015T>C n.563+22015T>C c.2000A>G (p.Lys667Arg) | dbSNP |
4 | g.47936719T>G | CA2911020 | CNGA1,NIPAL1 | c.1763A>C (p.Lys588Thr) c.1775A>C (p.Lys592Thr) c.1982A>C (p.Lys661Thr) n.478+22015T>G n.563+22015T>G c.2000A>C (p.Lys667Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936719T= | CA1455551684 | CNGA1,NIPAL1 | c.1763A= (p.Lys588=) c.1775A= (p.Lys592=) c.1982A= (p.Lys661=) n.478+22015T= n.563+22015T= c.2000A= (p.Lys667=) |