Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.47937076G>A | CA356825836 | CNGA1,NIPAL1 | c.1406C>T (p.Thr469Ile) c.1418C>T (p.Thr473Ile) c.1625C>T (p.Thr542Ile) n.479-21948G>A n.563+22372G>A c.1643C>T (p.Thr548Ile) | gnomAD v4 |
4 | g.47937076G>C | CA356825835 | CNGA1,NIPAL1 | c.1406C>G (p.Thr469Arg) c.1418C>G (p.Thr473Arg) c.1625C>G (p.Thr542Arg) n.479-21948G>C n.563+22372G>C c.1643C>G (p.Thr548Arg) | |
4 | g.47937076G>T | CA356825834 | CNGA1,NIPAL1 | c.1406C>A (p.Thr469Lys) c.1418C>A (p.Thr473Lys) c.1625C>A (p.Thr542Lys) n.479-21948G>T n.563+22372G>T c.1643C>A (p.Thr548Lys) | |
4 | g.47937077T>A | CA356825839 | CNGA1,NIPAL1 | c.1405A>T (p.Thr469Ser) c.1417A>T (p.Thr473Ser) c.1624A>T (p.Thr542Ser) n.479-21947T>A n.563+22373T>A c.1642A>T (p.Thr548Ser) | |
4 | g.47937077T>C | CA356825837 | CNGA1,NIPAL1 | c.1405A>G (p.Thr469Ala) c.1417A>G (p.Thr473Ala) c.1624A>G (p.Thr542Ala) n.479-21947T>C n.563+22373T>C c.1642A>G (p.Thr548Ala) | |
4 | g.47937077T>G | CA356825838 | CNGA1,NIPAL1 | c.1405A>C (p.Thr469Pro) c.1417A>C (p.Thr473Pro) c.1624A>C (p.Thr542Pro) n.479-21947T>G n.563+22373T>G c.1642A>C (p.Thr548Pro) | |
4 | g.47937078G>A | CA2911085 | CNGA1,NIPAL1 | c.1404C>T (p.Asp468=) c.1416C>T (p.Asp472=) c.1623C>T (p.Asp541=) n.479-21946G>A n.563+22374G>A c.1641C>T (p.Asp547=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47937078G>C | CA356825840 | CNGA1,NIPAL1 | c.1404C>G (p.Asp468Glu) c.1416C>G (p.Asp472Glu) c.1623C>G (p.Asp541Glu) n.479-21946G>C n.563+22374G>C c.1641C>G (p.Asp547Glu) | |
4 | g.47937078G= | CA1455551830 | CNGA1,NIPAL1 | c.1404C= (p.Asp468=) c.1416C= (p.Asp472=) c.1623C= (p.Asp541=) n.479-21946G= n.563+22374G= c.1641C= (p.Asp547=) | |
4 | g.47937078G>T | CA356825841 | CNGA1,NIPAL1 | c.1404C>A (p.Asp468Glu) c.1416C>A (p.Asp472Glu) c.1623C>A (p.Asp541Glu) n.479-21946G>T n.563+22374G>T c.1641C>A (p.Asp547Glu) | |
4 | g.47937079T>A | CA356825842 | CNGA1,NIPAL1 | c.1403A>T (p.Asp468Val) c.1415A>T (p.Asp472Val) c.1622A>T (p.Asp541Val) n.479-21945T>A n.563+22375T>A c.1640A>T (p.Asp547Val) | |
4 | g.47937079T>C | CA356825843 | CNGA1,NIPAL1 | c.1403A>G (p.Asp468Gly) c.1415A>G (p.Asp472Gly) c.1622A>G (p.Asp541Gly) n.479-21945T>C n.563+22375T>C c.1640A>G (p.Asp547Gly) | |
4 | g.47937079T>G | CA356825844 | CNGA1,NIPAL1 | c.1403A>C (p.Asp468Ala) c.1415A>C (p.Asp472Ala) c.1622A>C (p.Asp541Ala) n.479-21945T>G n.563+22375T>G c.1640A>C (p.Asp547Ala) | gnomAD v4 |
4 | g.47937080C>A | CA356825845 | CNGA1,NIPAL1 | c.1402G>T (p.Asp468Tyr) c.1414G>T (p.Asp472Tyr) c.1621G>T (p.Asp541Tyr) n.479-21944C>A n.563+22376C>A c.1639G>T (p.Asp547Tyr) | |
4 | g.47937080C>G | CA356825846 | CNGA1,NIPAL1 | c.1402G>C (p.Asp468His) c.1414G>C (p.Asp472His) c.1621G>C (p.Asp541His) n.479-21944C>G n.563+22376C>G c.1639G>C (p.Asp547His) | gnomAD v4 COSMIC |
4 | g.47937080C>T | CA356825847 | CNGA1,NIPAL1 | c.1402G>A (p.Asp468Asn) c.1414G>A (p.Asp472Asn) c.1621G>A (p.Asp541Asn) n.479-21944C>T n.563+22376C>T c.1639G>A (p.Asp547Asn) | |
4 | g.47937081T>A | CA356825848 | CNGA1,NIPAL1 | c.1401A>T (p.Leu467Phe) c.1413A>T (p.Leu471Phe) c.1620A>T (p.Leu540Phe) n.479-21943T>A n.563+22377T>A c.1638A>T (p.Leu546Phe) | |
4 | g.47937081T>C | CA439404136 | CNGA1,NIPAL1 | c.1401A>G (p.Leu467=) c.1413A>G (p.Leu471=) c.1620A>G (p.Leu540=) n.479-21943T>C n.563+22377T>C c.1638A>G (p.Leu546=) | |
4 | g.47937081T>G | CA356825849 | CNGA1,NIPAL1 | c.1401A>C (p.Leu467Phe) c.1413A>C (p.Leu471Phe) c.1620A>C (p.Leu540Phe) n.479-21943T>G n.563+22377T>G c.1638A>C (p.Leu546Phe) | |
4 | g.47937082A= | CA1455551831 | CNGA1,NIPAL1 | c.1400T= (p.Leu467=) c.1412T= (p.Leu471=) c.1619T= (p.Leu540=) n.479-21942A= n.563+22378A= c.1637T= (p.Leu546=) | |
4 | g.47937082A>C | CA356825852 | CNGA1,NIPAL1 | c.1400T>G (p.Leu467Ter) c.1412T>G (p.Leu471Ter) c.1619T>G (p.Leu540Ter) n.479-21942A>C n.563+22378A>C c.1637T>G (p.Leu546Ter) | |
4 | g.47937082A>G | CA356825851 | CNGA1,NIPAL1 | c.1400T>C (p.Leu467Ser) c.1412T>C (p.Leu471Ser) c.1619T>C (p.Leu540Ser) n.479-21942A>G n.563+22378A>G c.1637T>C (p.Leu546Ser) | ClinVar dbSNP |
4 | g.47937082A>T | CA356825850 | CNGA1,NIPAL1 | c.1400T>A (p.Leu467Ter) c.1412T>A (p.Leu471Ter) c.1619T>A (p.Leu540Ter) n.479-21942A>T n.563+22378A>T c.1637T>A (p.Leu546Ter) | |
4 | g.47937083A>C | CA356825853 | CNGA1,NIPAL1 | c.1399T>G (p.Leu467Val) c.1411T>G (p.Leu471Val) c.1618T>G (p.Leu540Val) n.479-21941A>C n.563+22379A>C c.1636T>G (p.Leu546Val) | |
4 | g.47937083A>G | CA439404139 | CNGA1,NIPAL1 | c.1399T>C (p.Leu467=) c.1411T>C (p.Leu471=) c.1618T>C (p.Leu540=) n.479-21941A>G n.563+22379A>G c.1636T>C (p.Leu546=) | |
4 | g.47937083A>T | CA356825854 | CNGA1,NIPAL1 | c.1399T>A (p.Leu467Ile) c.1411T>A (p.Leu471Ile) c.1618T>A (p.Leu540Ile) n.479-21941A>T n.563+22379A>T c.1636T>A (p.Leu546Ile) | |
4 | g.47937084G>A | CA439404144 | CNGA1,NIPAL1 | c.1398C>T (p.His466=) c.1410C>T (p.His470=) c.1617C>T (p.His539=) n.479-21940G>A n.563+22380G>A c.1635C>T (p.His545=) | |
4 | g.47937084G>C | CA356825855 | CNGA1,NIPAL1 | c.1398C>G (p.His466Gln) c.1410C>G (p.His470Gln) c.1617C>G (p.His539Gln) n.479-21940G>C n.563+22380G>C c.1635C>G (p.His545Gln) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47937084G= | CA1455551832 | CNGA1,NIPAL1 | c.1398C= (p.His466=) c.1410C= (p.His470=) c.1617C= (p.His539=) n.479-21940G= n.563+22380G= c.1635C= (p.His545=) | |
4 | g.47937084G>T | CA356825856 | CNGA1,NIPAL1 | c.1398C>A (p.His466Gln) c.1410C>A (p.His470Gln) c.1617C>A (p.His539Gln) n.479-21940G>T n.563+22380G>T c.1635C>A (p.His545Gln) | |
4 | g.47937085T>A | CA356825857 | CNGA1,NIPAL1 | c.1397A>T (p.His466Leu) c.1409A>T (p.His470Leu) c.1616A>T (p.His539Leu) n.479-21939T>A n.563+22381T>A c.1634A>T (p.His545Leu) | |
4 | g.47937085T>C | CA356825858 | CNGA1,NIPAL1 | c.1397A>G (p.His466Arg) c.1409A>G (p.His470Arg) c.1616A>G (p.His539Arg) n.479-21939T>C n.563+22381T>C c.1634A>G (p.His545Arg) | |
4 | g.47937085T>G | CA356825859 | CNGA1,NIPAL1 | c.1397A>C (p.His466Pro) c.1409A>C (p.His470Pro) c.1616A>C (p.His539Pro) n.479-21939T>G n.563+22381T>G c.1634A>C (p.His545Pro) | |
4 | g.47937086G>A | CA356825860 | CNGA1,NIPAL1 | c.1396C>T (p.His466Tyr) c.1408C>T (p.His470Tyr) c.1615C>T (p.His539Tyr) n.479-21938G>A n.563+22382G>A c.1633C>T (p.His545Tyr) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47937086G>C | CA356825861 | CNGA1,NIPAL1 | c.1396C>G (p.His466Asp) c.1408C>G (p.His470Asp) c.1615C>G (p.His539Asp) n.479-21938G>C n.563+22382G>C c.1633C>G (p.His545Asp) | |
4 | g.47937086G= | CA1455551833 | CNGA1,NIPAL1 | c.1396C= (p.His466=) c.1408C= (p.His470=) c.1615C= (p.His539=) n.479-21938G= n.563+22382G= c.1633C= (p.His545=) | |
4 | g.47937086G>T | CA356825862 | CNGA1,NIPAL1 | c.1396C>A (p.His466Asn) c.1408C>A (p.His470Asn) c.1615C>A (p.His539Asn) n.479-21938G>T n.563+22382G>T c.1633C>A (p.His545Asn) | ClinVar COSMIC |
4 | g.47937087A>C | CA439404149 | CNGA1,NIPAL1 | c.1395T>G (p.Val465=) c.1407T>G (p.Val469=) c.1614T>G (p.Val538=) n.479-21937A>C n.563+22383A>C c.1632T>G (p.Val544=) | |
4 | g.47937087A>G | CA439404150 | CNGA1,NIPAL1 | c.1395T>C (p.Val465=) c.1407T>C (p.Val469=) c.1614T>C (p.Val538=) n.479-21937A>G n.563+22383A>G c.1632T>C (p.Val544=) | |
4 | g.47937087A>T | CA439404151 | CNGA1,NIPAL1 | c.1395T>A (p.Val465=) c.1407T>A (p.Val469=) c.1614T>A (p.Val538=) n.479-21937A>T n.563+22383A>T c.1632T>A (p.Val544=) | |
4 | g.47937088A>C | CA356825863 | CNGA1,NIPAL1 | c.1394T>G (p.Val465Gly) c.1406T>G (p.Val469Gly) c.1613T>G (p.Val538Gly) n.479-21936A>C n.563+22384A>C c.1631T>G (p.Val544Gly) | |
4 | g.47937088A>G | CA356825864 | CNGA1,NIPAL1 | c.1394T>C (p.Val465Ala) c.1406T>C (p.Val469Ala) c.1613T>C (p.Val538Ala) n.479-21936A>G n.563+22384A>G c.1631T>C (p.Val544Ala) | COSMIC COSMIC |
4 | g.47937088A>T | CA356825865 | CNGA1,NIPAL1 | c.1394T>A (p.Val465Asp) c.1406T>A (p.Val469Asp) c.1613T>A (p.Val538Asp) n.479-21936A>T n.563+22384A>T c.1631T>A (p.Val544Asp) | |
4 | g.47937089C>A | CA96688671 | CNGA1,NIPAL1 | c.1393G>T (p.Val465Phe) c.1405G>T (p.Val469Phe) c.1612G>T (p.Val538Phe) n.479-21935C>A n.563+22385C>A c.1630G>T (p.Val544Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47937089C= | CA1455551834 | CNGA1,NIPAL1 | c.1393G= (p.Val465=) c.1405G= (p.Val469=) c.1612G= (p.Val538=) n.479-21935C= n.563+22385C= c.1630G= (p.Val544=) | |
4 | g.47937089C>G | CA356825867 | CNGA1,NIPAL1 | c.1393G>C (p.Val465Leu) c.1405G>C (p.Val469Leu) c.1612G>C (p.Val538Leu) n.479-21935C>G n.563+22385C>G c.1630G>C (p.Val544Leu) | |
4 | g.47937089C>T | CA356825866 | CNGA1,NIPAL1 | c.1393G>A (p.Val465Ile) c.1405G>A (p.Val469Ile) c.1612G>A (p.Val538Ile) n.479-21935C>T n.563+22385C>T c.1630G>A (p.Val544Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.47937090G>A | CA2911086 | CNGA1,NIPAL1 | c.1392C>T (p.Asn464=) c.1404C>T (p.Asn468=) c.1611C>T (p.Asn537=) n.479-21934G>A n.563+22386G>A c.1629C>T (p.Asn543=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47937090G>C | CA356825868 | CNGA1,NIPAL1 | c.1392C>G (p.Asn464Lys) c.1404C>G (p.Asn468Lys) c.1611C>G (p.Asn537Lys) n.479-21934G>C n.563+22386G>C c.1629C>G (p.Asn543Lys) | gnomAD v4 |
4 | g.47937090G= | CA1455551835 | CNGA1,NIPAL1 | c.1392C= (p.Asn464=) c.1404C= (p.Asn468=) c.1611C= (p.Asn537=) n.479-21934G= n.563+22386G= c.1629C= (p.Asn543=) | |
4 | g.47937090G>T | CA356825869 | CNGA1,NIPAL1 | c.1392C>A (p.Asn464Lys) c.1404C>A (p.Asn468Lys) c.1611C>A (p.Asn537Lys) n.479-21934G>T n.563+22386G>T c.1629C>A (p.Asn543Lys) | |
4 | g.47937091T>A | CA356825870 | CNGA1,NIPAL1 | c.1391A>T (p.Asn464Ile) c.1403A>T (p.Asn468Ile) c.1610A>T (p.Asn537Ile) n.479-21933T>A n.563+22387T>A c.1628A>T (p.Asn543Ile) | |
4 | g.47937091T>C | CA2911087 | CNGA1,NIPAL1 | c.1391A>G (p.Asn464Ser) c.1403A>G (p.Asn468Ser) c.1610A>G (p.Asn537Ser) n.479-21933T>C n.563+22387T>C c.1628A>G (p.Asn543Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47937091T>G | CA356825871 | CNGA1,NIPAL1 | c.1391A>C (p.Asn464Thr) c.1403A>C (p.Asn468Thr) c.1610A>C (p.Asn537Thr) n.479-21933T>G n.563+22387T>G c.1628A>C (p.Asn543Thr) | |
4 | g.47937091T= | CA1455551836 | CNGA1,NIPAL1 | c.1391A= (p.Asn464=) c.1403A= (p.Asn468=) c.1610A= (p.Asn537=) n.479-21933T= n.563+22387T= c.1628A= (p.Asn543=) | |
4 | g.47937092T>A | CA356825872 | CNGA1,NIPAL1 | c.1390A>T (p.Asn464Tyr) c.1402A>T (p.Asn468Tyr) c.1609A>T (p.Asn537Tyr) n.479-21932T>A n.563+22388T>A c.1627A>T (p.Asn543Tyr) | |
4 | g.47937092T>C | CA356825873 | CNGA1,NIPAL1 | c.1390A>G (p.Asn464Asp) c.1402A>G (p.Asn468Asp) c.1609A>G (p.Asn537Asp) n.479-21932T>C n.563+22388T>C c.1627A>G (p.Asn543Asp) | |
4 | g.47937092T>G | CA356825874 | CNGA1,NIPAL1 | c.1390A>C (p.Asn464His) c.1402A>C (p.Asn468His) c.1609A>C (p.Asn537His) n.479-21932T>G n.563+22388T>G c.1627A>C (p.Asn543His) | gnomAD v4 |
4 | g.47937093G>A | CA439404157 | CNGA1,NIPAL1 | c.1389C>T (p.Ile463=) c.1401C>T (p.Ile467=) c.1608C>T (p.Ile536=) n.479-21931G>A n.563+22389G>A c.1626C>T (p.Ile542=) | COSMIC |
4 | g.47937093G>C | CA356825875 | CNGA1,NIPAL1 | c.1389C>G (p.Ile463Met) c.1401C>G (p.Ile467Met) c.1608C>G (p.Ile536Met) n.479-21931G>C n.563+22389G>C c.1626C>G (p.Ile542Met) | |
4 | g.47937093G>T | CA439404158 | CNGA1,NIPAL1 | c.1389C>A (p.Ile463=) c.1401C>A (p.Ile467=) c.1608C>A (p.Ile536=) n.479-21931G>T n.563+22389G>T c.1626C>A (p.Ile542=) | |
4 | g.47937094A>C | CA356825876 | CNGA1,NIPAL1 | c.1388T>G (p.Ile463Ser) c.1400T>G (p.Ile467Ser) c.1607T>G (p.Ile536Ser) n.479-21930A>C n.563+22390A>C c.1625T>G (p.Ile542Ser) | |
4 | g.47937094A>G | CA356825877 | CNGA1,NIPAL1 | c.1388T>C (p.Ile463Thr) c.1400T>C (p.Ile467Thr) c.1607T>C (p.Ile536Thr) n.479-21930A>G n.563+22390A>G c.1625T>C (p.Ile542Thr) | |
4 | g.47937094A>T | CA356825878 | CNGA1,NIPAL1 | c.1388T>A (p.Ile463Asn) c.1400T>A (p.Ile467Asn) c.1607T>A (p.Ile536Asn) n.479-21930A>T n.563+22390A>T c.1625T>A (p.Ile542Asn) | COSMIC |
4 | g.47937095T>A | CA356825879 | CNGA1,NIPAL1 | c.1387A>T (p.Ile463Phe) c.1399A>T (p.Ile467Phe) c.1606A>T (p.Ile536Phe) n.479-21929T>A n.563+22391T>A c.1624A>T (p.Ile542Phe) | |
4 | g.47937095T>C | CA356825881 | CNGA1,NIPAL1 | c.1387A>G (p.Ile463Val) c.1399A>G (p.Ile467Val) c.1606A>G (p.Ile536Val) n.479-21929T>C n.563+22391T>C c.1624A>G (p.Ile542Val) | gnomAD v4 |
4 | g.47937095T>G | CA356825880 | CNGA1,NIPAL1 | c.1387A>C (p.Ile463Leu) c.1399A>C (p.Ile467Leu) c.1606A>C (p.Ile536Leu) n.479-21929T>G n.563+22391T>G c.1624A>C (p.Ile542Leu) | |
4 | g.47937096G>A | CA439404162 | CNGA1,NIPAL1 | c.1386C>T (p.Ala462=) c.1398C>T (p.Ala466=) c.1605C>T (p.Ala535=) n.479-21928G>A n.563+22392G>A c.1623C>T (p.Ala541=) | |
4 | g.47937096G>C | CA439404164 | CNGA1,NIPAL1 | c.1386C>G (p.Ala462=) c.1398C>G (p.Ala466=) c.1605C>G (p.Ala535=) n.479-21928G>C n.563+22392G>C c.1623C>G (p.Ala541=) | |
4 | g.47937096G>T | CA439404165 | CNGA1,NIPAL1 | c.1386C>A (p.Ala462=) c.1398C>A (p.Ala466=) c.1605C>A (p.Ala535=) n.479-21928G>T n.563+22392G>T c.1623C>A (p.Ala541=) | |
4 | g.47937097G>A | CA2911088 | CNGA1,NIPAL1 | c.1385C>T (p.Ala462Val) c.1397C>T (p.Ala466Val) c.1604C>T (p.Ala535Val) n.479-21927G>A n.563+22393G>A c.1622C>T (p.Ala541Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47937097G>C | CA356825882 | CNGA1,NIPAL1 | c.1385C>G (p.Ala462Gly) c.1397C>G (p.Ala466Gly) c.1604C>G (p.Ala535Gly) n.479-21927G>C n.563+22393G>C c.1622C>G (p.Ala541Gly) | |
4 | g.47937097G= | CA1455551837 | CNGA1,NIPAL1 | c.1385C= (p.Ala462=) c.1397C= (p.Ala466=) c.1604C= (p.Ala535=) n.479-21927G= n.563+22393G= c.1622C= (p.Ala541=) | |
4 | g.47937097G>T | CA356825883 | CNGA1,NIPAL1 | c.1385C>A (p.Ala462Asp) c.1397C>A (p.Ala466Asp) c.1604C>A (p.Ala535Asp) n.479-21927G>T n.563+22393G>T c.1622C>A (p.Ala541Asp) | |
4 | g.47937098C>A | CA356825884 | CNGA1,NIPAL1 | c.1384G>T (p.Ala462Ser) c.1396G>T (p.Ala466Ser) c.1603G>T (p.Ala535Ser) n.479-21926C>A n.563+22394C>A c.1621G>T (p.Ala541Ser) | |
4 | g.47937098C= | CA1455551838 | CNGA1,NIPAL1 | c.1384G= (p.Ala462=) c.1396G= (p.Ala466=) c.1603G= (p.Ala535=) n.479-21926C= n.563+22394C= c.1621G= (p.Ala541=) | |
4 | g.47937098C>G | CA356825885 | CNGA1,NIPAL1 | c.1384G>C (p.Ala462Pro) c.1396G>C (p.Ala466Pro) c.1603G>C (p.Ala535Pro) n.479-21926C>G n.563+22394C>G c.1621G>C (p.Ala541Pro) | |
4 | g.47937098C>T | CA356825886 | CNGA1,NIPAL1 | c.1384G>A (p.Ala462Thr) c.1396G>A (p.Ala466Thr) c.1603G>A (p.Ala535Thr) n.479-21926C>T n.563+22394C>T c.1621G>A (p.Ala541Thr) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47937099A>C | CA356825887 | CNGA1,NIPAL1 | c.1383T>G (p.Ile461Met) c.1395T>G (p.Ile465Met) c.1602T>G (p.Ile534Met) n.479-21925A>C n.563+22395A>C c.1620T>G (p.Ile540Met) | gnomAD v4 |
4 | g.47937099A>G | CA439404170 | CNGA1,NIPAL1 | c.1383T>C (p.Ile461=) c.1395T>C (p.Ile465=) c.1602T>C (p.Ile534=) n.479-21925A>G n.563+22395A>G c.1620T>C (p.Ile540=) | |
4 | g.47937099A>T | CA439404168 | CNGA1,NIPAL1 | c.1383T>A (p.Ile461=) c.1395T>A (p.Ile465=) c.1602T>A (p.Ile534=) n.479-21925A>T n.563+22395A>T c.1620T>A (p.Ile540=) | |
4 | g.47937100A= | CA1455551839 | CNGA1,NIPAL1 | c.1382T= (p.Ile461=) c.1394T= (p.Ile465=) c.1601T= (p.Ile534=) n.479-21924A= n.563+22396A= c.1619T= (p.Ile540=) | |
4 | g.47937100A>C | CA356825888 | CNGA1,NIPAL1 | c.1382T>G (p.Ile461Ser) c.1394T>G (p.Ile465Ser) c.1601T>G (p.Ile534Ser) n.479-21924A>C n.563+22396A>C c.1619T>G (p.Ile540Ser) | |
4 | g.47937100A>G | CA356825889 | CNGA1,NIPAL1 | c.1382T>C (p.Ile461Thr) c.1394T>C (p.Ile465Thr) c.1601T>C (p.Ile534Thr) n.479-21924A>G n.563+22396A>G c.1619T>C (p.Ile540Thr) | |
4 | g.47937100A>T | CA356825890 | CNGA1,NIPAL1 | c.1382T>A (p.Ile461Asn) c.1394T>A (p.Ile465Asn) c.1601T>A (p.Ile534Asn) n.479-21924A>T n.563+22396A>T c.1619T>A (p.Ile540Asn) | dbSNP |
4 | g.47937101T>A | CA356825893 | CNGA1,NIPAL1 | c.1381A>T (p.Ile461Phe) c.1393A>T (p.Ile465Phe) c.1600A>T (p.Ile534Phe) n.479-21923T>A n.563+22397T>A c.1618A>T (p.Ile540Phe) | |
4 | g.47937101T>C | CA356825891 | CNGA1,NIPAL1 | c.1381A>G (p.Ile461Val) c.1393A>G (p.Ile465Val) c.1600A>G (p.Ile534Val) n.479-21923T>C n.563+22397T>C c.1618A>G (p.Ile540Val) | |
4 | g.47937101T>G | CA356825892 | CNGA1,NIPAL1 | c.1381A>C (p.Ile461Leu) c.1393A>C (p.Ile465Leu) c.1600A>C (p.Ile534Leu) n.479-21923T>G n.563+22397T>G c.1618A>C (p.Ile540Leu) | |
4 | g.47937103dup | CA96688693 | CNGA1,NIPAL1 | c.1381dup (p.Ile461AsnfsTer18) c.1393dup (p.Ile465AsnfsTer18) c.1600dup (p.Ile534AsnfsTer18) n.479-21921dup n.563+22399dup c.1618dup (p.Ile540AsnfsTer18) | dbSNP |
4 | g.47937102T>A | CA356825895 | CNGA1,NIPAL1 | c.1380A>T (p.Glu460Asp) c.1392A>T (p.Glu464Asp) c.1599A>T (p.Glu533Asp) n.479-21922T>A n.563+22398T>A c.1617A>T (p.Glu539Asp) | |
4 | g.47937102T>C | CA439404172 | CNGA1,NIPAL1 | c.1380A>G (p.Glu460=) c.1392A>G (p.Glu464=) c.1599A>G (p.Glu533=) n.479-21922T>C n.563+22398T>C c.1617A>G (p.Glu539=) | COSMIC |
4 | g.47937102T>G | CA356825894 | CNGA1,NIPAL1 | c.1380A>C (p.Glu460Asp) c.1392A>C (p.Glu464Asp) c.1599A>C (p.Glu533Asp) n.479-21922T>G n.563+22398T>G c.1617A>C (p.Glu539Asp) | |
4 | g.47937103T>A | CA356825898 | CNGA1,NIPAL1 | c.1379A>T (p.Glu460Val) c.1391A>T (p.Glu464Val) c.1598A>T (p.Glu533Val) n.479-21921T>A n.563+22399T>A c.1616A>T (p.Glu539Val) | |
4 | g.47937103T>C | CA356825896 | CNGA1,NIPAL1 | c.1379A>G (p.Glu460Gly) c.1391A>G (p.Glu464Gly) c.1598A>G (p.Glu533Gly) n.479-21921T>C n.563+22399T>C c.1616A>G (p.Glu539Gly) | |
4 | g.47937103T>G | CA356825897 | CNGA1,NIPAL1 | c.1379A>C (p.Glu460Ala) c.1391A>C (p.Glu464Ala) c.1598A>C (p.Glu533Ala) n.479-21921T>G n.563+22399T>G c.1616A>C (p.Glu539Ala) | |
4 | g.47937104C>A | CA356825899 | CNGA1,NIPAL1 | c.1378G>T (p.Glu460Ter) c.1390G>T (p.Glu464Ter) c.1597G>T (p.Glu533Ter) n.479-21920C>A n.563+22400C>A c.1615G>T (p.Glu539Ter) | |
4 | g.47937104C>G | CA356825900 | CNGA1,NIPAL1 | c.1378G>C (p.Glu460Gln) c.1390G>C (p.Glu464Gln) c.1597G>C (p.Glu533Gln) n.479-21920C>G n.563+22400C>G c.1615G>C (p.Glu539Gln) | |
4 | g.47937104C>T | CA356825901 | CNGA1,NIPAL1 | c.1378G>A (p.Glu460Lys) c.1390G>A (p.Glu464Lys) c.1597G>A (p.Glu533Lys) n.479-21920C>T n.563+22400C>T c.1615G>A (p.Glu539Lys) | |
4 | g.47937105T>A | CA439404174 | CNGA1,NIPAL1 | c.1377A>T (p.Ala459=) c.1389A>T (p.Ala463=) c.1596A>T (p.Ala532=) n.479-21919T>A n.563+22401T>A c.1614A>T (p.Ala538=) | |
4 | g.47937105T>C | CA439404175 | CNGA1,NIPAL1 | c.1377A>G (p.Ala459=) c.1389A>G (p.Ala463=) c.1596A>G (p.Ala532=) n.479-21919T>C n.563+22401T>C c.1614A>G (p.Ala538=) | |
4 | g.47937105T>G | CA439404176 | CNGA1,NIPAL1 | c.1377A>C (p.Ala459=) c.1389A>C (p.Ala463=) c.1596A>C (p.Ala532=) n.479-21919T>G n.563+22401T>G c.1614A>C (p.Ala538=) | |
4 | g.47937106G>A | CA356825902 | CNGA1,NIPAL1 | c.1376C>T (p.Ala459Val) c.1388C>T (p.Ala463Val) c.1595C>T (p.Ala532Val) n.479-21918G>A n.563+22402G>A c.1613C>T (p.Ala538Val) | |
4 | g.47937106G>C | CA356825903 | CNGA1,NIPAL1 | c.1376C>G (p.Ala459Gly) c.1388C>G (p.Ala463Gly) c.1595C>G (p.Ala532Gly) n.479-21918G>C n.563+22402G>C c.1613C>G (p.Ala538Gly) | COSMIC |
4 | g.47937106G>T | CA356825904 | CNGA1,NIPAL1 | c.1376C>A (p.Ala459Glu) c.1388C>A (p.Ala463Glu) c.1595C>A (p.Ala532Glu) n.479-21918G>T n.563+22402G>T c.1613C>A (p.Ala538Glu) | |
4 | g.47937107C>A | CA356825905 | CNGA1,NIPAL1 | c.1375G>T (p.Ala459Ser) c.1387G>T (p.Ala463Ser) c.1594G>T (p.Ala532Ser) n.479-21917C>A n.563+22403C>A c.1612G>T (p.Ala538Ser) | dbSNP gnomAD v4 |
4 | g.47937107C= | CA1455551840 | CNGA1,NIPAL1 | c.1375G= (p.Ala459=) c.1387G= (p.Ala463=) c.1594G= (p.Ala532=) n.479-21917C= n.563+22403C= c.1612G= (p.Ala538=) | |
4 | g.47937107C>G | CA356825906 | CNGA1,NIPAL1 | c.1375G>C (p.Ala459Pro) c.1387G>C (p.Ala463Pro) c.1594G>C (p.Ala532Pro) n.479-21917C>G n.563+22403C>G c.1612G>C (p.Ala538Pro) | |
4 | g.47937107C>T | CA96688705 | CNGA1,NIPAL1 | c.1375G>A (p.Ala459Thr) c.1387G>A (p.Ala463Thr) c.1594G>A (p.Ala532Thr) n.479-21917C>T n.563+22403C>T c.1612G>A (p.Ala538Thr) | dbSNP COSMIC |
4 | g.47937108T>A | CA356825908 | CNGA1,NIPAL1 | c.1374A>T (p.Arg458Ser) c.1386A>T (p.Arg462Ser) c.1593A>T (p.Arg531Ser) n.479-21916T>A n.563+22404T>A c.1611A>T (p.Arg537Ser) | |
4 | g.47937108T>C | CA2911089 | CNGA1,NIPAL1 | c.1374A>G (p.Arg458=) c.1386A>G (p.Arg462=) c.1593A>G (p.Arg531=) n.479-21916T>C n.563+22404T>C c.1611A>G (p.Arg537=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47937108T>G | CA356825907 | CNGA1,NIPAL1 | c.1374A>C (p.Arg458Ser) c.1386A>C (p.Arg462Ser) c.1593A>C (p.Arg531Ser) n.479-21916T>G n.563+22404T>G c.1611A>C (p.Arg537Ser) | |
4 | g.47937108T= | CA1455551841 | CNGA1,NIPAL1 | c.1374A= (p.Arg458=) c.1386A= (p.Arg462=) c.1593A= (p.Arg531=) n.479-21916T= n.563+22404T= c.1611A= (p.Arg537=) | |
4 | g.47937109C>A | CA356825909 | CNGA1,NIPAL1 | c.1373G>T (p.Arg458Ile) c.1385G>T (p.Arg462Ile) c.1592G>T (p.Arg531Ile) n.479-21915C>A n.563+22405C>A c.1610G>T (p.Arg537Ile) | |
4 | g.47937109C>G | CA356825910 | CNGA1,NIPAL1 | c.1373G>C (p.Arg458Thr) c.1385G>C (p.Arg462Thr) c.1592G>C (p.Arg531Thr) n.479-21915C>G n.563+22405C>G c.1610G>C (p.Arg537Thr) | gnomAD v4 |
4 | g.47937109C>T | CA356825911 | CNGA1,NIPAL1 | c.1373G>A (p.Arg458Lys) c.1385G>A (p.Arg462Lys) c.1592G>A (p.Arg531Lys) n.479-21915C>T n.563+22405C>T c.1610G>A (p.Arg537Lys) | |
4 | g.47937110T>A | CA356825912 | CNGA1,NIPAL1 | c.1372A>T (p.Arg458Ter) c.1384A>T (p.Arg462Ter) c.1591A>T (p.Arg531Ter) n.479-21914T>A n.563+22406T>A c.1609A>T (p.Arg537Ter) | ClinVar |
4 | g.47937110T>C | CA356825913 | CNGA1,NIPAL1 | c.1372A>G (p.Arg458Gly) c.1384A>G (p.Arg462Gly) c.1591A>G (p.Arg531Gly) n.479-21914T>C n.563+22406T>C c.1609A>G (p.Arg537Gly) | |
4 | g.47937110T>G | CA439404180 | CNGA1,NIPAL1 | c.1372A>C (p.Arg458=) c.1384A>C (p.Arg462=) c.1591A>C (p.Arg531=) n.479-21914T>G n.563+22406T>G c.1609A>C (p.Arg537=) | |
4 | g.47937111T>A | CA439404181 | CNGA1,NIPAL1 | c.1371A>T (p.Leu457=) c.1383A>T (p.Leu461=) c.1590A>T (p.Leu530=) n.479-21913T>A n.563+22407T>A c.1608A>T (p.Leu536=) | |
4 | g.47937111T>C | CA439404183 | CNGA1,NIPAL1 | c.1371A>G (p.Leu457=) c.1383A>G (p.Leu461=) c.1590A>G (p.Leu530=) n.479-21913T>C n.563+22407T>C c.1608A>G (p.Leu536=) | |
4 | g.47937111T>G | CA439404182 | CNGA1,NIPAL1 | c.1371A>C (p.Leu457=) c.1383A>C (p.Leu461=) c.1590A>C (p.Leu530=) n.479-21913T>G n.563+22407T>G c.1608A>C (p.Leu536=) | |
4 | g.47937112A>C | CA356825914 | CNGA1,NIPAL1 | c.1370T>G (p.Leu457Arg) c.1382T>G (p.Leu461Arg) c.1589T>G (p.Leu530Arg) n.479-21912A>C n.563+22408A>C c.1607T>G (p.Leu536Arg) | |
4 | g.47937112A>G | CA356825915 | CNGA1,NIPAL1 | c.1370T>C (p.Leu457Pro) c.1382T>C (p.Leu461Pro) c.1589T>C (p.Leu530Pro) n.479-21912A>G n.563+22408A>G c.1607T>C (p.Leu536Pro) | |
4 | g.47937112A>T | CA356825916 | CNGA1,NIPAL1 | c.1370T>A (p.Leu457Gln) c.1382T>A (p.Leu461Gln) c.1589T>A (p.Leu530Gln) n.479-21912A>T n.563+22408A>T c.1607T>A (p.Leu536Gln) | |
4 | g.47937113G>A | CA439404187 | CNGA1,NIPAL1 | c.1369C>T (p.Leu457=) c.1381C>T (p.Leu461=) c.1588C>T (p.Leu530=) n.479-21911G>A n.563+22409G>A c.1606C>T (p.Leu536=) | |
4 | g.47937113G>C | CA2911090 | CNGA1,NIPAL1 | c.1369C>G (p.Leu457Val) c.1381C>G (p.Leu461Val) c.1588C>G (p.Leu530Val) n.479-21911G>C n.563+22409G>C c.1606C>G (p.Leu536Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47937113G= | CA1455551842 | CNGA1,NIPAL1 | c.1369C= (p.Leu457=) c.1381C= (p.Leu461=) c.1588C= (p.Leu530=) n.479-21911G= n.563+22409G= c.1606C= (p.Leu536=) | |
4 | g.47937113G>T | CA356825917 | CNGA1,NIPAL1 | c.1369C>A (p.Leu457Ile) c.1381C>A (p.Leu461Ile) c.1588C>A (p.Leu530Ile) n.479-21911G>T n.563+22409G>T c.1606C>A (p.Leu536Ile) | gnomAD v4 COSMIC |
4 | g.47937114T>A | CA356825918 | CNGA1,NIPAL1 | c.1368A>T (p.Lys456Asn) c.1380A>T (p.Lys460Asn) c.1587A>T (p.Lys529Asn) n.479-21910T>A n.563+22410T>A c.1605A>T (p.Lys535Asn) | |
4 | g.47937114T>C | CA439404188 | CNGA1,NIPAL1 | c.1368A>G (p.Lys456=) c.1380A>G (p.Lys460=) c.1587A>G (p.Lys529=) n.479-21910T>C n.563+22410T>C c.1605A>G (p.Lys535=) | |
4 | g.47937114T>G | CA356825919 | CNGA1,NIPAL1 | c.1368A>C (p.Lys456Asn) c.1380A>C (p.Lys460Asn) c.1587A>C (p.Lys529Asn) n.479-21910T>G n.563+22410T>G c.1605A>C (p.Lys535Asn) | |
4 | g.47937115T>A | CA356825921 | CNGA1,NIPAL1 | c.1367A>T (p.Lys456Ile) c.1379A>T (p.Lys460Ile) c.1586A>T (p.Lys529Ile) n.479-21909T>A n.563+22411T>A c.1604A>T (p.Lys535Ile) | |
4 | g.47937115T>C | CA356825922 | CNGA1,NIPAL1 | c.1367A>G (p.Lys456Arg) c.1379A>G (p.Lys460Arg) c.1586A>G (p.Lys529Arg) n.479-21909T>C n.563+22411T>C c.1604A>G (p.Lys535Arg) | |
4 | g.47937115T>G | CA356825920 | CNGA1,NIPAL1 | c.1367A>C (p.Lys456Thr) c.1379A>C (p.Lys460Thr) c.1586A>C (p.Lys529Thr) n.479-21909T>G n.563+22411T>G c.1604A>C (p.Lys535Thr) | |
4 | g.47937116T>A | CA356825923 | CNGA1,NIPAL1 | c.1366A>T (p.Lys456Ter) c.1378A>T (p.Lys460Ter) c.1585A>T (p.Lys529Ter) n.479-21908T>A n.563+22412T>A c.1603A>T (p.Lys535Ter) | |
4 | g.47937116T>C | CA356825924 | CNGA1,NIPAL1 | c.1366A>G (p.Lys456Glu) c.1378A>G (p.Lys460Glu) c.1585A>G (p.Lys529Glu) n.479-21908T>C n.563+22412T>C c.1603A>G (p.Lys535Glu) | gnomAD v4 |
4 | g.47937116T>G | CA356825925 | CNGA1,NIPAL1 | c.1366A>C (p.Lys456Gln) c.1378A>C (p.Lys460Gln) c.1585A>C (p.Lys529Gln) n.479-21908T>G n.563+22412T>G c.1603A>C (p.Lys535Gln) | |
4 | g.47937117A= | CA1455551843 | CNGA1,NIPAL1 | c.1365T= (p.Asp455=) c.1377T= (p.Asp459=) c.1584T= (p.Asp528=) n.479-21907A= n.563+22413A= c.1602T= (p.Asp534=) | |
4 | g.47937117A>C | CA356825926 | CNGA1,NIPAL1 | c.1365T>G (p.Asp455Glu) c.1377T>G (p.Asp459Glu) c.1584T>G (p.Asp528Glu) n.479-21907A>C n.563+22413A>C c.1602T>G (p.Asp534Glu) | |
4 | g.47937117A>G | CA2911091 | CNGA1,NIPAL1 | c.1365T>C (p.Asp455=) c.1377T>C (p.Asp459=) c.1584T>C (p.Asp528=) n.479-21907A>G n.563+22413A>G c.1602T>C (p.Asp534=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47937117A>T | CA356825927 | CNGA1,NIPAL1 | c.1365T>A (p.Asp455Glu) c.1377T>A (p.Asp459Glu) c.1584T>A (p.Asp528Glu) n.479-21907A>T n.563+22413A>T c.1602T>A (p.Asp534Glu) | dbSNP gnomAD v4 |
4 | g.47937118T>A | CA356825928 | CNGA1,NIPAL1 | c.1364A>T (p.Asp455Val) c.1376A>T (p.Asp459Val) c.1583A>T (p.Asp528Val) n.479-21906T>A n.563+22414T>A c.1601A>T (p.Asp534Val) | |
4 | g.47937118T>C | CA356825929 | CNGA1,NIPAL1 | c.1364A>G (p.Asp455Gly) c.1376A>G (p.Asp459Gly) c.1583A>G (p.Asp528Gly) n.479-21906T>C n.563+22414T>C c.1601A>G (p.Asp534Gly) | |
4 | g.47937118T>G | CA356825930 | CNGA1,NIPAL1 | c.1364A>C (p.Asp455Ala) c.1376A>C (p.Asp459Ala) c.1583A>C (p.Asp528Ala) n.479-21906T>G n.563+22414T>G c.1601A>C (p.Asp534Ala) | |
4 | g.47937119C>A | CA356825931 | CNGA1,NIPAL1 | c.1363G>T (p.Asp455Tyr) c.1375G>T (p.Asp459Tyr) c.1582G>T (p.Asp528Tyr) n.479-21905C>A n.563+22415C>A c.1600G>T (p.Asp534Tyr) | |
4 | g.47937119C>G | CA356825932 | CNGA1,NIPAL1 | c.1363G>C (p.Asp455His) c.1375G>C (p.Asp459His) c.1582G>C (p.Asp528His) n.479-21905C>G n.563+22415C>G c.1600G>C (p.Asp534His) | |
4 | g.47937119C>T | CA356825933 | CNGA1,NIPAL1 | c.1363G>A (p.Asp455Asn) c.1375G>A (p.Asp459Asn) c.1582G>A (p.Asp528Asn) n.479-21905C>T n.563+22415C>T c.1600G>A (p.Asp534Asn) | COSMIC COSMIC |
4 | g.47937120A>C | CA439404193 | CNGA1,NIPAL1 | c.1362T>G (p.Pro454=) c.1374T>G (p.Pro458=) c.1581T>G (p.Pro527=) n.479-21904A>C n.563+22416A>C c.1599T>G (p.Pro533=) | |
4 | g.47937120A>G | CA439404194 | CNGA1,NIPAL1 | c.1362T>C (p.Pro454=) c.1374T>C (p.Pro458=) c.1581T>C (p.Pro527=) n.479-21904A>G n.563+22416A>G c.1599T>C (p.Pro533=) | gnomAD v4 |
4 | g.47937120A>T | CA439404195 | CNGA1,NIPAL1 | c.1362T>A (p.Pro454=) c.1374T>A (p.Pro458=) c.1581T>A (p.Pro527=) n.479-21904A>T n.563+22416A>T c.1599T>A (p.Pro533=) | |
4 | g.47937121G>A | CA356825935 | CNGA1,NIPAL1 | c.1361C>T (p.Pro454Leu) c.1373C>T (p.Pro458Leu) c.1580C>T (p.Pro527Leu) n.479-21903G>A n.563+22417G>A c.1598C>T (p.Pro533Leu) | |
4 | g.47937121G>C | CA356825936 | CNGA1,NIPAL1 | c.1361C>G (p.Pro454Arg) c.1373C>G (p.Pro458Arg) c.1580C>G (p.Pro527Arg) n.479-21903G>C n.563+22417G>C c.1598C>G (p.Pro533Arg) | |
4 | g.47937121G>T | CA356825934 | CNGA1,NIPAL1 | c.1361C>A (p.Pro454His) c.1373C>A (p.Pro458His) c.1580C>A (p.Pro527His) n.479-21903G>T n.563+22417G>T c.1598C>A (p.Pro533His) | |
4 | g.47937122G>A | CA356825937 | CNGA1,NIPAL1 | c.1360C>T (p.Pro454Ser) c.1372C>T (p.Pro458Ser) c.1579C>T (p.Pro527Ser) n.479-21902G>A n.563+22418G>A c.1597C>T (p.Pro533Ser) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47937122G>C | CA356825938 | CNGA1,NIPAL1 | c.1360C>G (p.Pro454Ala) c.1372C>G (p.Pro458Ala) c.1579C>G (p.Pro527Ala) n.479-21902G>C n.563+22418G>C c.1597C>G (p.Pro533Ala) | |
4 | g.47937122G= | CA1455551844 | CNGA1,NIPAL1 | c.1360C= (p.Pro454=) c.1372C= (p.Pro458=) c.1579C= (p.Pro527=) n.479-21902G= n.563+22418G= c.1597C= (p.Pro533=) | |
4 | g.47937122G>T | CA356825939 | CNGA1,NIPAL1 | c.1360C>A (p.Pro454Thr) c.1372C>A (p.Pro458Thr) c.1579C>A (p.Pro527Thr) n.479-21902G>T n.563+22418G>T c.1597C>A (p.Pro533Thr) | |
4 | g.47937123T>A | CA439404199 | CNGA1,NIPAL1 | c.1359A>T (p.Leu453=) c.1371A>T (p.Leu457=) c.1578A>T (p.Leu526=) n.479-21901T>A n.563+22419T>A c.1596A>T (p.Leu532=) | |
4 | g.47937123T>C | CA439404201 | CNGA1,NIPAL1 | c.1359A>G (p.Leu453=) c.1371A>G (p.Leu457=) c.1578A>G (p.Leu526=) n.479-21901T>C n.563+22419T>C c.1596A>G (p.Leu532=) | |
4 | g.47937123T>G | CA439404202 | CNGA1,NIPAL1 | c.1359A>C (p.Leu453=) c.1371A>C (p.Leu457=) c.1578A>C (p.Leu526=) n.479-21901T>G n.563+22419T>G c.1596A>C (p.Leu532=) | |
4 | g.47937124A>C | CA356825940 | CNGA1,NIPAL1 | c.1358T>G (p.Leu453Arg) c.1370T>G (p.Leu457Arg) c.1577T>G (p.Leu526Arg) n.479-21900A>C n.563+22420A>C c.1595T>G (p.Leu532Arg) | |
4 | g.47937124A>G | CA356825941 | CNGA1,NIPAL1 | c.1358T>C (p.Leu453Pro) c.1370T>C (p.Leu457Pro) c.1577T>C (p.Leu526Pro) n.479-21900A>G n.563+22420A>G c.1595T>C (p.Leu532Pro) | |
4 | g.47937124A>T | CA356825942 | CNGA1,NIPAL1 | c.1358T>A (p.Leu453Gln) c.1370T>A (p.Leu457Gln) c.1577T>A (p.Leu526Gln) n.479-21900A>T n.563+22420A>T c.1595T>A (p.Leu532Gln) | |
4 | g.47937125G>A | CA439404203 | CNGA1,NIPAL1 | c.1357C>T (p.Leu453=) c.1369C>T (p.Leu457=) c.1576C>T (p.Leu526=) n.479-21899G>A n.563+22421G>A c.1594C>T (p.Leu532=) | |
4 | g.47937125G>C | CA356825943 | CNGA1,NIPAL1 | c.1357C>G (p.Leu453Val) c.1369C>G (p.Leu457Val) c.1576C>G (p.Leu526Val) n.479-21899G>C n.563+22421G>C c.1594C>G (p.Leu532Val) | |
4 | g.47937125G>T | CA356825944 | CNGA1,NIPAL1 | c.1357C>A (p.Leu453Ile) c.1369C>A (p.Leu457Ile) c.1576C>A (p.Leu526Ile) n.479-21899G>T n.563+22421G>T c.1594C>A (p.Leu532Ile) | |
4 | g.47937126A= | CA1455551845 | CNGA1,NIPAL1 | c.1356T= (p.Tyr452=) c.1368T= (p.Tyr456=) c.1575T= (p.Tyr525=) n.479-21898A= n.563+22422A= c.1593T= (p.Tyr531=) | |
4 | g.47937126A>C | CA356825945 | CNGA1,NIPAL1 | c.1356T>G (p.Tyr452Ter) c.1368T>G (p.Tyr456Ter) c.1575T>G (p.Tyr525Ter) n.479-21898A>C n.563+22422A>C c.1593T>G (p.Tyr531Ter) | |
4 | g.47937126A>G | CA439404205 | CNGA1,NIPAL1 | c.1356T>C (p.Tyr452=) c.1368T>C (p.Tyr456=) c.1575T>C (p.Tyr525=) n.479-21898A>G n.563+22422A>G c.1593T>C (p.Tyr531=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47937126A>T | CA356825946 | CNGA1,NIPAL1 | c.1356T>A (p.Tyr452Ter) c.1368T>A (p.Tyr456Ter) c.1575T>A (p.Tyr525Ter) n.479-21898A>T n.563+22422A>T c.1593T>A (p.Tyr531Ter) | |
4 | g.47937127T>A | CA356825947 | CNGA1,NIPAL1 | c.1355A>T (p.Tyr452Phe) c.1367A>T (p.Tyr456Phe) c.1574A>T (p.Tyr525Phe) n.479-21897T>A n.563+22423T>A c.1592A>T (p.Tyr531Phe) | |
4 | g.47937127T>C | CA356825948 | CNGA1,NIPAL1 | c.1355A>G (p.Tyr452Cys) c.1367A>G (p.Tyr456Cys) c.1574A>G (p.Tyr525Cys) n.479-21897T>C n.563+22423T>C c.1592A>G (p.Tyr531Cys) | |
4 | g.47937127T>G | CA356825949 | CNGA1,NIPAL1 | c.1355A>C (p.Tyr452Ser) c.1367A>C (p.Tyr456Ser) c.1574A>C (p.Tyr525Ser) n.479-21897T>G n.563+22423T>G c.1592A>C (p.Tyr531Ser) | |
4 | g.47937128A= | CA1455551846 | CNGA1,NIPAL1 | c.1354T= (p.Tyr452=) c.1366T= (p.Tyr456=) c.1573T= (p.Tyr525=) n.479-21896A= n.563+22424A= c.1591T= (p.Tyr531=) | |
4 | g.47937128A>C | CA356825952 | CNGA1,NIPAL1 | c.1354T>G (p.Tyr452Asp) c.1366T>G (p.Tyr456Asp) c.1573T>G (p.Tyr525Asp) n.479-21896A>C n.563+22424A>C c.1591T>G (p.Tyr531Asp) | |
4 | g.47937128A>G | CA356825951 | CNGA1,NIPAL1 | c.1354T>C (p.Tyr452His) c.1366T>C (p.Tyr456His) c.1573T>C (p.Tyr525His) n.479-21896A>G n.563+22424A>G c.1591T>C (p.Tyr531His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.47937128A>T | CA356825950 | CNGA1,NIPAL1 | c.1354T>A (p.Tyr452Asn) c.1366T>A (p.Tyr456Asn) c.1573T>A (p.Tyr525Asn) n.479-21896A>T n.563+22424A>T c.1591T>A (p.Tyr531Asn) | |
4 | g.47937128dup | CA2578081539 | CNGA1,NIPAL1 | c.1354dup (p.Tyr452LeufsTer4) c.1366dup (p.Tyr456LeufsTer4) c.1573dup (p.Tyr525LeufsTer4) n.479-21896dup n.563+22424dup c.1591dup (p.Tyr531LeufsTer4) | |
4 | g.47937129C>A | CA356825953 | CNGA1,NIPAL1 | c.1353G>T (p.Lys451Asn) c.1365G>T (p.Lys455Asn) c.1572G>T (p.Lys524Asn) n.479-21895C>A n.563+22425C>A c.1590G>T (p.Lys530Asn) | |
4 | g.47937129C>G | CA356825954 | CNGA1,NIPAL1 | c.1353G>C (p.Lys451Asn) c.1365G>C (p.Lys455Asn) c.1572G>C (p.Lys524Asn) n.479-21895C>G n.563+22425C>G c.1590G>C (p.Lys530Asn) | |
4 | g.47937129C>T | CA439404207 | CNGA1,NIPAL1 | c.1353G>A (p.Lys451=) c.1365G>A (p.Lys455=) c.1572G>A (p.Lys524=) n.479-21895C>T n.563+22425C>T c.1590G>A (p.Lys530=) | gnomAD v4 |
4 | g.47937130T>A | CA356825955 | CNGA1,NIPAL1 | c.1352A>T (p.Lys451Met) c.1364A>T (p.Lys455Met) c.1571A>T (p.Lys524Met) n.479-21894T>A n.563+22426T>A c.1589A>T (p.Lys530Met) | |
4 | g.47937130T>C | CA356825956 | CNGA1,NIPAL1 | c.1352A>G (p.Lys451Arg) c.1364A>G (p.Lys455Arg) c.1571A>G (p.Lys524Arg) n.479-21894T>C n.563+22426T>C c.1589A>G (p.Lys530Arg) | |
4 | g.47937130T>G | CA356825957 | CNGA1,NIPAL1 | c.1352A>C (p.Lys451Thr) c.1364A>C (p.Lys455Thr) c.1571A>C (p.Lys524Thr) n.479-21894T>G n.563+22426T>G c.1589A>C (p.Lys530Thr) | |
4 | g.47937131T>A | CA356825958 | CNGA1,NIPAL1 | c.1351A>T (p.Lys451Ter) c.1363A>T (p.Lys455Ter) c.1570A>T (p.Lys524Ter) n.479-21893T>A n.563+22427T>A c.1588A>T (p.Lys530Ter) | |
4 | g.47937131T>C | CA356825959 | CNGA1,NIPAL1 | c.1351A>G (p.Lys451Glu) c.1363A>G (p.Lys455Glu) c.1570A>G (p.Lys524Glu) n.479-21893T>C n.563+22427T>C c.1588A>G (p.Lys530Glu) | |
4 | g.47937131T>G | CA356825960 | CNGA1,NIPAL1 | c.1351A>C (p.Lys451Gln) c.1363A>C (p.Lys455Gln) c.1570A>C (p.Lys524Gln) n.479-21893T>G n.563+22427T>G c.1588A>C (p.Lys530Gln) | |
4 | g.47937132T>A | CA356825962 | CNGA1,NIPAL1 | c.1350A>T (p.Leu450Phe) c.1362A>T (p.Leu454Phe) c.1569A>T (p.Leu523Phe) n.479-21892T>A n.563+22428T>A c.1587A>T (p.Leu529Phe) | |
4 | g.47937132T>C | CA2911092 | CNGA1,NIPAL1 | c.1350A>G (p.Leu450=) c.1362A>G (p.Leu454=) c.1569A>G (p.Leu523=) n.479-21892T>C n.563+22428T>C c.1587A>G (p.Leu529=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47937132T>G | CA356825961 | CNGA1,NIPAL1 | c.1350A>C (p.Leu450Phe) c.1362A>C (p.Leu454Phe) c.1569A>C (p.Leu523Phe) n.479-21892T>G n.563+22428T>G c.1587A>C (p.Leu529Phe) | |
4 | g.47937132T= | CA1455551847 | CNGA1,NIPAL1 | c.1350A= (p.Leu450=) c.1362A= (p.Leu454=) c.1569A= (p.Leu523=) n.479-21892T= n.563+22428T= c.1587A= (p.Leu529=) | |
4 | g.47937133A>C | CA356825963 | CNGA1,NIPAL1 | c.1349T>G (p.Leu450Ter) c.1361T>G (p.Leu454Ter) c.1568T>G (p.Leu523Ter) n.479-21891A>C n.563+22429A>C c.1586T>G (p.Leu529Ter) | |
4 | g.47937133A>G | CA356825964 | CNGA1,NIPAL1 | c.1349T>C (p.Leu450Ser) c.1361T>C (p.Leu454Ser) c.1568T>C (p.Leu523Ser) n.479-21891A>G n.563+22429A>G c.1586T>C (p.Leu529Ser) | gnomAD v4 |
4 | g.47937133A>T | CA356825965 | CNGA1,NIPAL1 | c.1349T>A (p.Leu450Ter) c.1361T>A (p.Leu454Ter) c.1568T>A (p.Leu523Ter) n.479-21891A>T n.563+22429A>T c.1586T>A (p.Leu529Ter) | |
4 | g.47937134A>C | CA356825966 | CNGA1,NIPAL1 | c.1348T>G (p.Leu450Val) c.1360T>G (p.Leu454Val) c.1567T>G (p.Leu523Val) n.479-21890A>C n.563+22430A>C c.1585T>G (p.Leu529Val) | |
4 | g.47937134A>G | CA439404209 | CNGA1,NIPAL1 | c.1348T>C (p.Leu450=) c.1360T>C (p.Leu454=) c.1567T>C (p.Leu523=) n.479-21890A>G n.563+22430A>G c.1585T>C (p.Leu529=) | gnomAD v4 |
4 | g.47937134A>T | CA356825967 | CNGA1,NIPAL1 | c.1348T>A (p.Leu450Ile) c.1360T>A (p.Leu454Ile) c.1567T>A (p.Leu523Ile) n.479-21890A>T n.563+22430A>T c.1585T>A (p.Leu529Ile) | |
4 | g.47937135G>A | CA439404213 | CNGA1,NIPAL1 | c.1347C>T (p.Val449=) c.1359C>T (p.Val453=) c.1566C>T (p.Val522=) n.479-21889G>A n.563+22431G>A c.1584C>T (p.Val528=) | |
4 | g.47937135G>C | CA439404214 | CNGA1,NIPAL1 | c.1347C>G (p.Val449=) c.1359C>G (p.Val453=) c.1566C>G (p.Val522=) n.479-21889G>C n.563+22431G>C c.1584C>G (p.Val528=) | |
4 | g.47937135G= | CA1455551848 | CNGA1,NIPAL1 | c.1347C= (p.Val449=) c.1359C= (p.Val453=) c.1566C= (p.Val522=) n.479-21889G= n.563+22431G= c.1584C= (p.Val528=) | |
4 | g.47937135G>T | CA439404216 | CNGA1,NIPAL1 | c.1347C>A (p.Val449=) c.1359C>A (p.Val453=) c.1566C>A (p.Val522=) n.479-21889G>T n.563+22431G>T c.1584C>A (p.Val528=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47937136A= | CA1455551849 | CNGA1,NIPAL1 | c.1346T= (p.Val449=) c.1358T= (p.Val453=) c.1565T= (p.Val522=) n.479-21888A= n.563+22432A= c.1583T= (p.Val528=) | |
4 | g.47937136A>C | CA356825968 | CNGA1,NIPAL1 | c.1346T>G (p.Val449Gly) c.1358T>G (p.Val453Gly) c.1565T>G (p.Val522Gly) n.479-21888A>C n.563+22432A>C c.1583T>G (p.Val528Gly) | |
4 | g.47937136A>G | CA356825970 | CNGA1,NIPAL1 | c.1346T>C (p.Val449Ala) c.1358T>C (p.Val453Ala) c.1565T>C (p.Val522Ala) n.479-21888A>G n.563+22432A>G c.1583T>C (p.Val528Ala) | ClinVar dbSNP gnomAD v4 |
4 | g.47937136A>T | CA356825969 | CNGA1,NIPAL1 | c.1346T>A (p.Val449Asp) c.1358T>A (p.Val453Asp) c.1565T>A (p.Val522Asp) n.479-21888A>T n.563+22432A>T c.1583T>A (p.Val528Asp) | |
4 | g.47937137C>A | CA2911093 | CNGA1,NIPAL1 | c.1345G>T (p.Val449Phe) c.1357G>T (p.Val453Phe) c.1564G>T (p.Val522Phe) n.479-21887C>A n.563+22433C>A c.1582G>T (p.Val528Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47937137C= | CA1455551850 | CNGA1,NIPAL1 | c.1345G= (p.Val449=) c.1357G= (p.Val453=) c.1564G= (p.Val522=) n.479-21887C= n.563+22433C= c.1582G= (p.Val528=) | |
4 | g.47937137C>G | CA356825971 | CNGA1,NIPAL1 | c.1345G>C (p.Val449Leu) c.1357G>C (p.Val453Leu) c.1564G>C (p.Val522Leu) n.479-21887C>G n.563+22433C>G c.1582G>C (p.Val528Leu) | |
4 | g.47937137C>T | CA356825972 | CNGA1,NIPAL1 | c.1345G>A (p.Val449Ile) c.1357G>A (p.Val453Ile) c.1564G>A (p.Val522Ile) n.479-21887C>T n.563+22433C>T c.1582G>A (p.Val528Ile) | |
4 | g.47937138T>A | CA356825973 | CNGA1,NIPAL1 | c.1344A>T (p.Glu448Asp) c.1356A>T (p.Glu452Asp) c.1563A>T (p.Glu521Asp) n.479-21886T>A n.563+22434T>A c.1581A>T (p.Glu527Asp) | gnomAD v4 |
4 | g.47937138T>C | CA439404218 | CNGA1,NIPAL1 | c.1344A>G (p.Glu448=) c.1356A>G (p.Glu452=) c.1563A>G (p.Glu521=) n.479-21886T>C n.563+22434T>C c.1581A>G (p.Glu527=) | |
4 | g.47937138T>G | CA356825974 | CNGA1,NIPAL1 | c.1344A>C (p.Glu448Asp) c.1356A>C (p.Glu452Asp) c.1563A>C (p.Glu521Asp) n.479-21886T>G n.563+22434T>G c.1581A>C (p.Glu527Asp) | |
4 | g.47937139T>A | CA356825975 | CNGA1,NIPAL1 | c.1343A>T (p.Glu448Val) c.1355A>T (p.Glu452Val) c.1562A>T (p.Glu521Val) n.479-21885T>A n.563+22435T>A c.1580A>T (p.Glu527Val) | |
4 | g.47937139T>C | CA356825976 | CNGA1,NIPAL1 | c.1343A>G (p.Glu448Gly) c.1355A>G (p.Glu452Gly) c.1562A>G (p.Glu521Gly) n.479-21885T>C n.563+22435T>C c.1580A>G (p.Glu527Gly) | |
4 | g.47937139T>G | CA356825977 | CNGA1,NIPAL1 | c.1343A>C (p.Glu448Ala) c.1355A>C (p.Glu452Ala) c.1562A>C (p.Glu521Ala) n.479-21885T>G n.563+22435T>G c.1580A>C (p.Glu527Ala) | |
4 | g.47937140C>A | CA356825978 | CNGA1,NIPAL1 | c.1342G>T (p.Glu448Ter) c.1354G>T (p.Glu452Ter) c.1561G>T (p.Glu521Ter) n.479-21884C>A n.563+22436C>A c.1579G>T (p.Glu527Ter) | |
4 | g.47937140C= | CA1455551851 | CNGA1,NIPAL1 | c.1342G= (p.Glu448=) c.1354G= (p.Glu452=) c.1561G= (p.Glu521=) n.479-21884C= n.563+22436C= c.1579G= (p.Glu527=) | |
4 | g.47937140C>G | CA356825979 | CNGA1,NIPAL1 | c.1342G>C (p.Glu448Gln) c.1354G>C (p.Glu452Gln) c.1561G>C (p.Glu521Gln) n.479-21884C>G n.563+22436C>G c.1579G>C (p.Glu527Gln) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47937140C>T | CA356825980 | CNGA1,NIPAL1 | c.1342G>A (p.Glu448Lys) c.1354G>A (p.Glu452Lys) c.1561G>A (p.Glu521Lys) n.479-21884C>T n.563+22436C>T c.1579G>A (p.Glu527Lys) | |
4 | g.47937140_47937141insCC | CA2761332296 | CNGA1,NIPAL1 | c.1342_1343insGG (p.Glu448GlyfsTer4) c.1354_1355insGG (p.Glu452GlyfsTer4) c.1561_1562insGG (p.Glu521GlyfsTer4) n.479-21884_479-21883insCC n.563+22436_563+22437insCC c.1579_1580insGG (p.Glu527GlyfsTer4) | |
4 | g.47937141T>A | CA356825981 | CNGA1,NIPAL1 | c.1341A>T (p.Lys447Asn) c.1353A>T (p.Lys451Asn) c.1560A>T (p.Lys520Asn) n.479-21883T>A n.563+22437T>A c.1578A>T (p.Lys526Asn) | |
4 | g.47937141T>C | CA439404221 | CNGA1,NIPAL1 | c.1341A>G (p.Lys447=) c.1353A>G (p.Lys451=) c.1560A>G (p.Lys520=) n.479-21883T>C n.563+22437T>C c.1578A>G (p.Lys526=) | dbSNP |
4 | g.47937141T>G | CA356825982 | CNGA1,NIPAL1 | c.1341A>C (p.Lys447Asn) c.1353A>C (p.Lys451Asn) c.1560A>C (p.Lys520Asn) n.479-21883T>G n.563+22437T>G c.1578A>C (p.Lys526Asn) | |
4 | g.47937141T= | CA1455551852 | CNGA1,NIPAL1 | c.1341A= (p.Lys447=) c.1353A= (p.Lys451=) c.1560A= (p.Lys520=) n.479-21883T= n.563+22437T= c.1578A= (p.Lys526=) | |
4 | g.47937142T>A | CA356825983 | CNGA1,NIPAL1 | c.1340A>T (p.Lys447Ile) c.1352A>T (p.Lys451Ile) c.1559A>T (p.Lys520Ile) n.479-21882T>A n.563+22438T>A c.1577A>T (p.Lys526Ile) | |
4 | g.47937142T>C | CA356825984 | CNGA1,NIPAL1 | c.1340A>G (p.Lys447Arg) c.1352A>G (p.Lys451Arg) c.1559A>G (p.Lys520Arg) n.479-21882T>C n.563+22438T>C c.1577A>G (p.Lys526Arg) | |
4 | g.47937142T>G | CA356825985 | CNGA1,NIPAL1 | c.1340A>C (p.Lys447Thr) c.1352A>C (p.Lys451Thr) c.1559A>C (p.Lys520Thr) n.479-21882T>G n.563+22438T>G c.1577A>C (p.Lys526Thr) | |
4 | g.47937143T>A | CA356825986 | CNGA1,NIPAL1 | c.1339A>T (p.Lys447Ter) c.1351A>T (p.Lys451Ter) c.1558A>T (p.Lys520Ter) n.479-21881T>A n.563+22439T>A c.1576A>T (p.Lys526Ter) | |
4 | g.47937143T>C | CA356825987 | CNGA1,NIPAL1 | c.1339A>G (p.Lys447Glu) c.1351A>G (p.Lys451Glu) c.1558A>G (p.Lys520Glu) n.479-21881T>C n.563+22439T>C c.1576A>G (p.Lys526Glu) | dbSNP |
4 | g.47937143T>G | CA356825988 | CNGA1,NIPAL1 | c.1339A>C (p.Lys447Gln) c.1351A>C (p.Lys451Gln) c.1558A>C (p.Lys520Gln) n.479-21881T>G n.563+22439T>G c.1576A>C (p.Lys526Gln) | |
4 | g.47937143T= | CA1455551853 | CNGA1,NIPAL1 | c.1339A= (p.Lys447=) c.1351A= (p.Lys451=) c.1558A= (p.Lys520=) n.479-21881T= n.563+22439T= c.1576A= (p.Lys526=) | |
4 | g.47937145_47937146del | CA2761332297 | CNGA1,NIPAL1 | c.1338_1339del (p.Lys447ArgfsTer8) c.1350_1351del (p.Lys451ArgfsTer8) c.1557_1558del (p.Lys520ArgfsTer8) n.479-21879_479-21878del n.563+22441_563+22442del c.1575_1576del (p.Lys526ArgfsTer8) | |
4 | g.47937144C>A | CA356825989 | CNGA1,NIPAL1 | c.1338G>T (p.Glu446Asp) c.1350G>T (p.Glu450Asp) c.1557G>T (p.Glu519Asp) n.479-21880C>A n.563+22440C>A c.1575G>T (p.Glu525Asp) | |
4 | g.47937144C>G | CA356825990 | CNGA1,NIPAL1 | c.1338G>C (p.Glu446Asp) c.1350G>C (p.Glu450Asp) c.1557G>C (p.Glu519Asp) n.479-21880C>G n.563+22440C>G c.1575G>C (p.Glu525Asp) | gnomAD v3 gnomAD v4 |
4 | g.47937144C>T | CA439404007 | CNGA1,NIPAL1 | c.1338G>A (p.Glu446=) c.1350G>A (p.Glu450=) c.1557G>A (p.Glu519=) n.479-21880C>T n.563+22440C>T c.1575G>A (p.Glu525=) | |
4 | g.47937144_47937145delinsCT | CA1455551854 | CNGA1,NIPAL1 | c.1337_1338delinsAG (p.Glu446=) c.1349_1350delinsAG (p.Glu450=) c.1556_1557delinsAG (p.Glu519=) n.479-21880_479-21879delinsCT n.563+22440_563+22441delinsCT c.1574_1575delinsAG (p.Glu525=) | |
4 | g.47937145del | CA2911094 | CNGA1,NIPAL1 | c.1337del (p.Glu446GlyfsTer5) c.1349del (p.Glu450GlyfsTer5) c.1556del (p.Glu519GlyfsTer5) n.479-21879del n.563+22441del c.1574del (p.Glu525GlyfsTer5) | dbSNP ExAC gnomAD v4 |
4 | g.47937145T>A | CA356825991 | CNGA1,NIPAL1 | c.1337A>T (p.Glu446Val) c.1349A>T (p.Glu450Val) c.1556A>T (p.Glu519Val) n.479-21879T>A n.563+22441T>A c.1574A>T (p.Glu525Val) | |
4 | g.47937145T>C | CA356825992 | CNGA1,NIPAL1 | c.1337A>G (p.Glu446Gly) c.1349A>G (p.Glu450Gly) c.1556A>G (p.Glu519Gly) n.479-21879T>C n.563+22441T>C c.1574A>G (p.Glu525Gly) | dbSNP |
4 | g.47937145T>G | CA356825993 | CNGA1,NIPAL1 | c.1337A>C (p.Glu446Ala) c.1349A>C (p.Glu450Ala) c.1556A>C (p.Glu519Ala) n.479-21879T>G n.563+22441T>G c.1574A>C (p.Glu525Ala) | |
4 | g.47937146C>A | CA356825995 | CNGA1,NIPAL1 | c.1336G>T (p.Glu446Ter) c.1348G>T (p.Glu450Ter) c.1555G>T (p.Glu519Ter) n.479-21878C>A n.563+22442C>A c.1573G>T (p.Glu525Ter) | |
4 | g.47937146C>G | CA356825996 | CNGA1,NIPAL1 | c.1336G>C (p.Glu446Gln) c.1348G>C (p.Glu450Gln) c.1555G>C (p.Glu519Gln) n.479-21878C>G n.563+22442C>G c.1573G>C (p.Glu525Gln) | |
4 | g.47937146C>T | CA356825994 | CNGA1,NIPAL1 | c.1336G>A (p.Glu446Lys) c.1348G>A (p.Glu450Lys) c.1555G>A (p.Glu519Lys) n.479-21878C>T n.563+22442C>T c.1573G>A (p.Glu525Lys) | ClinVar dbSNP |
4 | g.47937147A>C | CA356825997 | CNGA1,NIPAL1 | c.1335T>G (p.Asp445Glu) c.1347T>G (p.Asp449Glu) c.1554T>G (p.Asp518Glu) n.479-21877A>C n.563+22443A>C c.1572T>G (p.Asp524Glu) | |
4 | g.47937147A>G | CA439404022 | CNGA1,NIPAL1 | c.1335T>C (p.Asp445=) c.1347T>C (p.Asp449=) c.1554T>C (p.Asp518=) n.479-21877A>G n.563+22443A>G c.1572T>C (p.Asp524=) | |
4 | g.47937147A>T | CA356825998 | CNGA1,NIPAL1 | c.1335T>A (p.Asp445Glu) c.1347T>A (p.Asp449Glu) c.1554T>A (p.Asp518Glu) n.479-21877A>T n.563+22443A>T c.1572T>A (p.Asp524Glu) | |
4 | g.47937148T>A | CA356825999 | CNGA1,NIPAL1 | c.1334A>T (p.Asp445Val) c.1346A>T (p.Asp449Val) c.1553A>T (p.Asp518Val) n.479-21876T>A n.563+22444T>A c.1571A>T (p.Asp524Val) | |
4 | g.47937148T>C | CA356826000 | CNGA1,NIPAL1 | c.1334A>G (p.Asp445Gly) c.1346A>G (p.Asp449Gly) c.1553A>G (p.Asp518Gly) n.479-21876T>C n.563+22444T>C c.1571A>G (p.Asp524Gly) | |
4 | g.47937148T>G | CA356826001 | CNGA1,NIPAL1 | c.1334A>C (p.Asp445Ala) c.1346A>C (p.Asp449Ala) c.1553A>C (p.Asp518Ala) n.479-21876T>G n.563+22444T>G c.1571A>C (p.Asp524Ala) | |
4 | g.47937149C>A | CA356826004 | CNGA1,NIPAL1 | c.1333G>T (p.Asp445Tyr) c.1345G>T (p.Asp449Tyr) c.1552G>T (p.Asp518Tyr) n.479-21875C>A n.563+22445C>A c.1570G>T (p.Asp524Tyr) | |
4 | g.47937149C>G | CA356826002 | CNGA1,NIPAL1 | c.1333G>C (p.Asp445His) c.1345G>C (p.Asp449His) c.1552G>C (p.Asp518His) n.479-21875C>G n.563+22445C>G c.1570G>C (p.Asp524His) | |
4 | g.47937149C>T | CA356826003 | CNGA1,NIPAL1 | c.1333G>A (p.Asp445Asn) c.1345G>A (p.Asp449Asn) c.1552G>A (p.Asp518Asn) n.479-21875C>T n.563+22445C>T c.1570G>A (p.Asp524Asn) | ClinVar |
4 | g.47937150A>C | CA439404027 | CNGA1,NIPAL1 | c.1332T>G (p.Val444=) c.1344T>G (p.Val448=) c.1551T>G (p.Val517=) n.479-21874A>C n.563+22446A>C c.1569T>G (p.Val523=) | |
4 | g.47937150A>G | CA439404028 | CNGA1,NIPAL1 | c.1332T>C (p.Val444=) c.1344T>C (p.Val448=) c.1551T>C (p.Val517=) n.479-21874A>G n.563+22446A>G c.1569T>C (p.Val523=) | |
4 | g.47937150A>T | CA439404029 | CNGA1,NIPAL1 | c.1332T>A (p.Val444=) c.1344T>A (p.Val448=) c.1551T>A (p.Val517=) n.479-21874A>T n.563+22446A>T c.1569T>A (p.Val523=) | |
4 | g.47937151A= | CA1455551855 | CNGA1,NIPAL1 | c.1331T= (p.Val444=) c.1343T= (p.Val448=) c.1550T= (p.Val517=) n.479-21873A= n.563+22447A= c.1568T= (p.Val523=) | |
4 | g.47937151A>C | CA356826005 | CNGA1,NIPAL1 | c.1331T>G (p.Val444Gly) c.1343T>G (p.Val448Gly) c.1550T>G (p.Val517Gly) n.479-21873A>C n.563+22447A>C c.1568T>G (p.Val523Gly) | |
4 | g.47937151A>G | CA356826006 | CNGA1,NIPAL1 | c.1331T>C (p.Val444Ala) c.1343T>C (p.Val448Ala) c.1550T>C (p.Val517Ala) n.479-21873A>G n.563+22447A>G c.1568T>C (p.Val523Ala) | dbSNP gnomAD v4 |
4 | g.47937151A>T | CA356826007 | CNGA1,NIPAL1 | c.1331T>A (p.Val444Asp) c.1343T>A (p.Val448Asp) c.1550T>A (p.Val517Asp) n.479-21873A>T n.563+22447A>T c.1568T>A (p.Val523Asp) | |
4 | g.47937152C>A | CA356826008 | CNGA1,NIPAL1 | c.1330G>T (p.Val444Phe) c.1342G>T (p.Val448Phe) c.1549G>T (p.Val517Phe) n.479-21872C>A n.563+22448C>A c.1567G>T (p.Val523Phe) | COSMIC |
4 | g.47937152C= | CA1455551856 | CNGA1,NIPAL1 | c.1330G= (p.Val444=) c.1342G= (p.Val448=) c.1549G= (p.Val517=) n.479-21872C= n.563+22448C= c.1567G= (p.Val523=) | |
4 | g.47937152C>G | CA96688731 | CNGA1,NIPAL1 | c.1330G>C (p.Val444Leu) c.1342G>C (p.Val448Leu) c.1549G>C (p.Val517Leu) n.479-21872C>G n.563+22448C>G c.1567G>C (p.Val523Leu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47937152C>T | CA2911095 | CNGA1,NIPAL1 | c.1330G>A (p.Val444Ile) c.1342G>A (p.Val448Ile) c.1549G>A (p.Val517Ile) n.479-21872C>T n.563+22448C>T c.1567G>A (p.Val523Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47937153T>A | CA439404032 | CNGA1,NIPAL1 | c.1329A>T (p.Thr443=) c.1341A>T (p.Thr447=) c.1548A>T (p.Thr516=) n.479-21871T>A n.563+22449T>A c.1566A>T (p.Thr522=) | |
4 | g.47937153T>C | CA439404034 | CNGA1,NIPAL1 | c.1329A>G (p.Thr443=) c.1341A>G (p.Thr447=) c.1548A>G (p.Thr516=) n.479-21871T>C n.563+22449T>C c.1566A>G (p.Thr522=) | |
4 | g.47937153T>G | CA439404033 | CNGA1,NIPAL1 | c.1329A>C (p.Thr443=) c.1341A>C (p.Thr447=) c.1548A>C (p.Thr516=) n.479-21871T>G n.563+22449T>G c.1566A>C (p.Thr522=) | |
4 | g.47937153_47937154delinsTG | CA1455551857 | CNGA1,NIPAL1 | c.1328_1329delinsCA (p.Thr443=) c.1340_1341delinsCA (p.Thr447=) c.1547_1548delinsCA (p.Thr516=) n.479-21871_479-21870delinsTG n.563+22449_563+22450delinsTG c.1565_1566delinsCA (p.Thr522=) | |
4 | g.47937154del | CA795526961 | CNGA1,NIPAL1 | c.1328del (p.Thr443LysfsTer8) c.1340del (p.Thr447LysfsTer8) c.1547del (p.Thr516LysfsTer8) n.479-21870del n.563+22450del c.1565del (p.Thr522LysfsTer8) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.47937154G>A | CA356826010 | CNGA1,NIPAL1 | c.1328C>T (p.Thr443Ile) c.1340C>T (p.Thr447Ile) c.1547C>T (p.Thr516Ile) n.479-21870G>A n.563+22450G>A c.1565C>T (p.Thr522Ile) | |
4 | g.47937154G>C | CA2911097 | CNGA1,NIPAL1 | c.1328C>G (p.Thr443Arg) c.1340C>G (p.Thr447Arg) c.1547C>G (p.Thr516Arg) n.479-21870G>C n.563+22450G>C c.1565C>G (p.Thr522Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47937154G= | CA1455551859 | CNGA1,NIPAL1 | c.1328C= (p.Thr443=) c.1340C= (p.Thr447=) c.1547C= (p.Thr516=) n.479-21870G= n.563+22450G= c.1565C= (p.Thr522=) | |
4 | g.47937154G>T | CA356826009 | CNGA1,NIPAL1 | c.1328C>A (p.Thr443Lys) c.1340C>A (p.Thr447Lys) c.1547C>A (p.Thr516Lys) n.479-21870G>T n.563+22450G>T c.1565C>A (p.Thr522Lys) | |
4 | g.47937154_47937155delinsGT | CA1455551858 | CNGA1,NIPAL1 | c.1327_1328delinsAC (p.Thr443=) c.1339_1340delinsAC (p.Thr447=) c.1546_1547delinsAC (p.Thr516=) n.479-21870_479-21869delinsGT n.563+22450_563+22451delinsGT c.1564_1565delinsAC (p.Thr522=) | |
4 | g.47937154_47937155insC | CA2670552350 | CNGA1,NIPAL1 | c.1327_1328insG (p.Thr443SerfsTer3) c.1339_1340insG (p.Thr447SerfsTer3) c.1546_1547insG (p.Thr516SerfsTer3) n.479-21870_479-21869insC n.563+22450_563+22451insC c.1564_1565insG (p.Thr522SerfsTer3) | gnomAD v4 |
4 | g.47937155T>A | CA356826011 | CNGA1,NIPAL1 | c.1327A>T (p.Thr443Ser) c.1339A>T (p.Thr447Ser) c.1546A>T (p.Thr516Ser) n.479-21869T>A n.563+22451T>A c.1564A>T (p.Thr522Ser) | |
4 | g.47937155T>C | CA356826012 | CNGA1,NIPAL1 | c.1327A>G (p.Thr443Ala) c.1339A>G (p.Thr447Ala) c.1546A>G (p.Thr516Ala) n.479-21869T>C n.563+22451T>C c.1564A>G (p.Thr522Ala) | dbSNP |
4 | g.47937155T>G | CA356826013 | CNGA1,NIPAL1 | c.1327A>C (p.Thr443Pro) c.1339A>C (p.Thr447Pro) c.1546A>C (p.Thr516Pro) n.479-21869T>G n.563+22451T>G c.1564A>C (p.Thr522Pro) | |
4 | g.47937161dup | CA2911096 | CNGA1,NIPAL1 | c.1327dup (p.Thr443AsnfsTer3) c.1339dup (p.Thr447AsnfsTer3) c.1546dup (p.Thr516AsnfsTer3) n.479-21863dup n.563+22457dup c.1564dup (p.Thr522AsnfsTer3) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.47937161del | CA439404042 | CNGA1,NIPAL1 | c.1327del (p.Thr443GlnfsTer8) c.1339del (p.Thr447GlnfsTer8) c.1546del (p.Thr516GlnfsTer8) n.479-21863del n.563+22457del c.1564del (p.Thr522GlnfsTer8) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.47937155_47937156insA | CA439404043 | CNGA1,NIPAL1 | c.1326_1327insT (p.Thr443TyrfsTer3) c.1338_1339insT (p.Thr447TyrfsTer3) c.1545_1546insT (p.Thr516TyrfsTer3) n.479-21869_479-21868insA n.563+22451_563+22452insA c.1563_1564insT (p.Thr522TyrfsTer3) | |
4 | g.47937156T>A | CA356826014 | CNGA1,NIPAL1 | c.1326A>T (p.Lys442Asn) c.1338A>T (p.Lys446Asn) c.1545A>T (p.Lys515Asn) n.479-21868T>A n.563+22452T>A c.1563A>T (p.Lys521Asn) | |
4 | g.47937156T>C | CA439404044 | CNGA1,NIPAL1 | c.1326A>G (p.Lys442=) c.1338A>G (p.Lys446=) c.1545A>G (p.Lys515=) n.479-21868T>C n.563+22452T>C c.1563A>G (p.Lys521=) | |
4 | g.47937156T>G | CA356826015 | CNGA1,NIPAL1 | c.1326A>C (p.Lys442Asn) c.1338A>C (p.Lys446Asn) c.1545A>C (p.Lys515Asn) n.479-21868T>G n.563+22452T>G c.1563A>C (p.Lys521Asn) | |
4 | g.47937157T>A | CA356826018 | CNGA1,NIPAL1 | c.1325A>T (p.Lys442Ile) c.1337A>T (p.Lys446Ile) c.1544A>T (p.Lys515Ile) n.479-21867T>A n.563+22453T>A c.1562A>T (p.Lys521Ile) | |
4 | g.47937157T>C | CA356826016 | CNGA1,NIPAL1 | c.1325A>G (p.Lys442Arg) c.1337A>G (p.Lys446Arg) c.1544A>G (p.Lys515Arg) n.479-21867T>C n.563+22453T>C c.1562A>G (p.Lys521Arg) | |
4 | g.47937157T>G | CA356826017 | CNGA1,NIPAL1 | c.1325A>C (p.Lys442Thr) c.1337A>C (p.Lys446Thr) c.1544A>C (p.Lys515Thr) n.479-21867T>G n.563+22453T>G c.1562A>C (p.Lys521Thr) | |
4 | g.47937158T>A | CA356826019 | CNGA1,NIPAL1 | c.1324A>T (p.Lys442Ter) c.1336A>T (p.Lys446Ter) c.1543A>T (p.Lys515Ter) n.479-21866T>A n.563+22454T>A c.1561A>T (p.Lys521Ter) | |
4 | g.47937158T>C | CA356826020 | CNGA1,NIPAL1 | c.1324A>G (p.Lys442Glu) c.1336A>G (p.Lys446Glu) c.1543A>G (p.Lys515Glu) n.479-21866T>C n.563+22454T>C c.1561A>G (p.Lys521Glu) | |
4 | g.47937158T>G | CA356826021 | CNGA1,NIPAL1 | c.1324A>C (p.Lys442Gln) c.1336A>C (p.Lys446Gln) c.1543A>C (p.Lys515Gln) n.479-21866T>G n.563+22454T>G c.1561A>C (p.Lys521Gln) | |
4 | g.47937159T>A | CA356826022 | CNGA1,NIPAL1 | c.1323A>T (p.Lys441Asn) c.1335A>T (p.Lys445Asn) c.1542A>T (p.Lys514Asn) n.479-21865T>A n.563+22455T>A c.1560A>T (p.Lys520Asn) | |
4 | g.47937159T>C | CA439404048 | CNGA1,NIPAL1 | c.1323A>G (p.Lys441=) c.1335A>G (p.Lys445=) c.1542A>G (p.Lys514=) n.479-21865T>C n.563+22455T>C c.1560A>G (p.Lys520=) | |
4 | g.47937159T>G | CA356826023 | CNGA1,NIPAL1 | c.1323A>C (p.Lys441Asn) c.1335A>C (p.Lys445Asn) c.1542A>C (p.Lys514Asn) n.479-21865T>G n.563+22455T>G c.1560A>C (p.Lys520Asn) | |
4 | g.47937160T>A | CA356826026 | CNGA1,NIPAL1 | c.1322A>T (p.Lys441Ile) c.1334A>T (p.Lys445Ile) c.1541A>T (p.Lys514Ile) n.479-21864T>A n.563+22456T>A c.1559A>T (p.Lys520Ile) | |
4 | g.47937160T>C | CA356826024 | CNGA1,NIPAL1 | c.1322A>G (p.Lys441Arg) c.1334A>G (p.Lys445Arg) c.1541A>G (p.Lys514Arg) n.479-21864T>C n.563+22456T>C c.1559A>G (p.Lys520Arg) | |
4 | g.47937160T>G | CA356826025 | CNGA1,NIPAL1 | c.1322A>C (p.Lys441Thr) c.1334A>C (p.Lys445Thr) c.1541A>C (p.Lys514Thr) n.479-21864T>G n.563+22456T>G c.1559A>C (p.Lys520Thr) | |
4 | g.47937161T>A | CA356826027 | CNGA1,NIPAL1 | c.1321A>T (p.Lys441Ter) c.1333A>T (p.Lys445Ter) c.1540A>T (p.Lys514Ter) n.479-21863T>A n.563+22457T>A c.1558A>T (p.Lys520Ter) | |
4 | g.47937161T>C | CA356826028 | CNGA1,NIPAL1 | c.1321A>G (p.Lys441Glu) c.1333A>G (p.Lys445Glu) c.1540A>G (p.Lys514Glu) n.479-21863T>C n.563+22457T>C c.1558A>G (p.Lys520Glu) | |
4 | g.47937161T>G | CA356826029 | CNGA1,NIPAL1 | c.1321A>C (p.Lys441Gln) c.1333A>C (p.Lys445Gln) c.1540A>C (p.Lys514Gln) n.479-21863T>G n.563+22457T>G c.1558A>C (p.Lys520Gln) | |
4 | g.47937162G>A | CA96688776 | CNGA1,NIPAL1 | c.1320C>T (p.Asn440=) c.1332C>T (p.Asn444=) c.1539C>T (p.Asn513=) n.479-21862G>A n.563+22458G>A c.1557C>T (p.Asn519=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47937162G>C | CA356826030 | CNGA1,NIPAL1 | c.1320C>G (p.Asn440Lys) c.1332C>G (p.Asn444Lys) c.1539C>G (p.Asn513Lys) n.479-21862G>C n.563+22458G>C c.1557C>G (p.Asn519Lys) | |
4 | g.47937162G= | CA1455551860 | CNGA1,NIPAL1 | c.1320C= (p.Asn440=) c.1332C= (p.Asn444=) c.1539C= (p.Asn513=) n.479-21862G= n.563+22458G= c.1557C= (p.Asn519=) | |
4 | g.47937162G>T | CA356826031 | CNGA1,NIPAL1 | c.1320C>A (p.Asn440Lys) c.1332C>A (p.Asn444Lys) c.1539C>A (p.Asn513Lys) n.479-21862G>T n.563+22458G>T c.1557C>A (p.Asn519Lys) | gnomAD v4 |
4 | g.47937163T>A | CA356826034 | CNGA1,NIPAL1 | c.1319A>T (p.Asn440Ile) c.1331A>T (p.Asn444Ile) c.1538A>T (p.Asn513Ile) n.479-21861T>A n.563+22459T>A c.1556A>T (p.Asn519Ile) | |
4 | g.47937163T>C | CA356826033 | CNGA1,NIPAL1 | c.1319A>G (p.Asn440Ser) c.1331A>G (p.Asn444Ser) c.1538A>G (p.Asn513Ser) n.479-21861T>C n.563+22459T>C c.1556A>G (p.Asn519Ser) | |
4 | g.47937163T>G | CA356826032 | CNGA1,NIPAL1 | c.1319A>C (p.Asn440Thr) c.1331A>C (p.Asn444Thr) c.1538A>C (p.Asn513Thr) n.479-21861T>G n.563+22459T>G c.1556A>C (p.Asn519Thr) | |
4 | g.47937164T>A | CA356826035 | CNGA1,NIPAL1 | c.1318A>T (p.Asn440Tyr) c.1330A>T (p.Asn444Tyr) c.1537A>T (p.Asn513Tyr) n.479-21860T>A n.563+22460T>A c.1555A>T (p.Asn519Tyr) | |
4 | g.47937164T>C | CA356826036 | CNGA1,NIPAL1 | c.1318A>G (p.Asn440Asp) c.1330A>G (p.Asn444Asp) c.1537A>G (p.Asn513Asp) n.479-21860T>C n.563+22460T>C c.1555A>G (p.Asn519Asp) | |
4 | g.47937164T>G | CA356826037 | CNGA1,NIPAL1 | c.1318A>C (p.Asn440His) c.1330A>C (p.Asn444His) c.1537A>C (p.Asn513His) n.479-21860T>G n.563+22460T>G c.1555A>C (p.Asn519His) | |
4 | g.47937165G>A | CA439404064 | CNGA1,NIPAL1 | c.1317C>T (p.Thr439=) c.1329C>T (p.Thr443=) c.1536C>T (p.Thr512=) n.479-21859G>A n.563+22461G>A c.1554C>T (p.Thr518=) | ClinVar |
4 | g.47937165G>C | CA439404066 | CNGA1,NIPAL1 | c.1317C>G (p.Thr439=) c.1329C>G (p.Thr443=) c.1536C>G (p.Thr512=) n.479-21859G>C n.563+22461G>C c.1554C>G (p.Thr518=) | |
4 | g.47937165G>T | CA439404068 | CNGA1,NIPAL1 | c.1317C>A (p.Thr439=) c.1329C>A (p.Thr443=) c.1536C>A (p.Thr512=) n.479-21859G>T n.563+22461G>T c.1554C>A (p.Thr518=) | |
4 | g.47937166G>A | CA356826038 | CNGA1,NIPAL1 | c.1316C>T (p.Thr439Ile) c.1328C>T (p.Thr443Ile) c.1535C>T (p.Thr512Ile) n.479-21858G>A n.563+22462G>A c.1553C>T (p.Thr518Ile) | |
4 | g.47937166G>C | CA356826039 | CNGA1,NIPAL1 | c.1316C>G (p.Thr439Ser) c.1328C>G (p.Thr443Ser) c.1535C>G (p.Thr512Ser) n.479-21858G>C n.563+22462G>C c.1553C>G (p.Thr518Ser) | |
4 | g.47937166G>T | CA356826040 | CNGA1,NIPAL1 | c.1316C>A (p.Thr439Asn) c.1328C>A (p.Thr443Asn) c.1535C>A (p.Thr512Asn) n.479-21858G>T n.563+22462G>T c.1553C>A (p.Thr518Asn) | |
4 | g.47937167T>A | CA356826041 | CNGA1,NIPAL1 | c.1315A>T (p.Thr439Ser) c.1327A>T (p.Thr443Ser) c.1534A>T (p.Thr512Ser) n.479-21857T>A n.563+22463T>A c.1552A>T (p.Thr518Ser) | |
4 | g.47937167T>C | CA356826043 | CNGA1,NIPAL1 | c.1315A>G (p.Thr439Ala) c.1327A>G (p.Thr443Ala) c.1534A>G (p.Thr512Ala) n.479-21857T>C n.563+22463T>C c.1552A>G (p.Thr518Ala) | |
4 | g.47937167T>G | CA356826042 | CNGA1,NIPAL1 | c.1315A>C (p.Thr439Pro) c.1327A>C (p.Thr443Pro) c.1534A>C (p.Thr512Pro) n.479-21857T>G n.563+22463T>G c.1552A>C (p.Thr518Pro) | |
4 | g.47937168C>A | CA356826044 | CNGA1,NIPAL1 | c.1314G>T (p.Trp438Cys) c.1326G>T (p.Trp442Cys) c.1533G>T (p.Trp511Cys) n.479-21856C>A n.563+22464C>A c.1551G>T (p.Trp517Cys) | |
4 | g.47937168C>G | CA356826045 | CNGA1,NIPAL1 | c.1314G>C (p.Trp438Cys) c.1326G>C (p.Trp442Cys) c.1533G>C (p.Trp511Cys) n.479-21856C>G n.563+22464C>G c.1551G>C (p.Trp517Cys) | |
4 | g.47937168C>T | CA356826046 | CNGA1,NIPAL1 | c.1314G>A (p.Trp438Ter) c.1326G>A (p.Trp442Ter) c.1533G>A (p.Trp511Ter) n.479-21856C>T n.563+22464C>T c.1551G>A (p.Trp517Ter) | |
4 | g.47937169C>A | CA356826047 | CNGA1,NIPAL1 | c.1313G>T (p.Trp438Leu) c.1325G>T (p.Trp442Leu) c.1532G>T (p.Trp511Leu) n.479-21855C>A n.563+22465C>A c.1550G>T (p.Trp517Leu) | |
4 | g.47937169C= | CA1455551861 | CNGA1,NIPAL1 | c.1313G= (p.Trp438=) c.1325G= (p.Trp442=) c.1532G= (p.Trp511=) n.479-21855C= n.563+22465C= c.1550G= (p.Trp517=) | |
4 | g.47937169C>G | CA356826048 | CNGA1,NIPAL1 | c.1313G>C (p.Trp438Ser) c.1325G>C (p.Trp442Ser) c.1532G>C (p.Trp511Ser) n.479-21855C>G n.563+22465C>G c.1550G>C (p.Trp517Ser) | |
4 | g.47937169C>T | CA356826049 | CNGA1,NIPAL1 | c.1313G>A (p.Trp438Ter) c.1325G>A (p.Trp442Ter) c.1532G>A (p.Trp511Ter) n.479-21855C>T n.563+22465C>T c.1550G>A (p.Trp517Ter) | dbSNP |
4 | g.47937170A= | CA1455551862 | CNGA1,NIPAL1 | c.1312T= (p.Trp438=) c.1324T= (p.Trp442=) c.1531T= (p.Trp511=) n.479-21854A= n.563+22466A= c.1549T= (p.Trp517=) | |
4 | g.47937170A>C | CA2911098 | CNGA1,NIPAL1 | c.1312T>G (p.Trp438Gly) c.1324T>G (p.Trp442Gly) c.1531T>G (p.Trp511Gly) n.479-21854A>C n.563+22466A>C c.1549T>G (p.Trp517Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47937170A>G | CA356826050 | CNGA1,NIPAL1 | c.1312T>C (p.Trp438Arg) c.1324T>C (p.Trp442Arg) c.1531T>C (p.Trp511Arg) n.479-21854A>G n.563+22466A>G c.1549T>C (p.Trp517Arg) | COSMIC |
4 | g.47937170A>T | CA356826051 | CNGA1,NIPAL1 | c.1312T>A (p.Trp438Arg) c.1324T>A (p.Trp442Arg) c.1531T>A (p.Trp511Arg) n.479-21854A>T n.563+22466A>T c.1549T>A (p.Trp517Arg) | |
4 | g.47937171C>A | CA439404079 | CNGA1,NIPAL1 | c.1311G>T (p.Leu437=) c.1323G>T (p.Leu441=) c.1530G>T (p.Leu510=) n.479-21853C>A n.563+22467C>A c.1548G>T (p.Leu516=) | |
4 | g.47937171C= | CA1455551863 | CNGA1,NIPAL1 | c.1311G= (p.Leu437=) c.1323G= (p.Leu441=) c.1530G= (p.Leu510=) n.479-21853C= n.563+22467C= c.1548G= (p.Leu516=) | |
4 | g.47937171C>G | CA439404081 | CNGA1,NIPAL1 | c.1311G>C (p.Leu437=) c.1323G>C (p.Leu441=) c.1530G>C (p.Leu510=) n.479-21853C>G n.563+22467C>G c.1548G>C (p.Leu516=) | |
4 | g.47937171C>T | CA96688804 | CNGA1,NIPAL1 | c.1311G>A (p.Leu437=) c.1323G>A (p.Leu441=) c.1530G>A (p.Leu510=) n.479-21853C>T n.563+22467C>T c.1548G>A (p.Leu516=) | dbSNP |
4 | g.47937172A>C | CA356826052 | CNGA1,NIPAL1 | c.1310T>G (p.Leu437Arg) c.1322T>G (p.Leu441Arg) c.1529T>G (p.Leu510Arg) n.479-21852A>C n.563+22468A>C c.1547T>G (p.Leu516Arg) | |
4 | g.47937172A>G | CA356826053 | CNGA1,NIPAL1 | c.1310T>C (p.Leu437Pro) c.1322T>C (p.Leu441Pro) c.1529T>C (p.Leu510Pro) n.479-21852A>G n.563+22468A>G c.1547T>C (p.Leu516Pro) | gnomAD v4 |
4 | g.47937172A>T | CA356826054 | CNGA1,NIPAL1 | c.1310T>A (p.Leu437Gln) c.1322T>A (p.Leu441Gln) c.1529T>A (p.Leu510Gln) n.479-21852A>T n.563+22468A>T c.1547T>A (p.Leu516Gln) | |
4 | g.47937173G>A | CA2911100 | CNGA1,NIPAL1 | c.1309C>T (p.Leu437=) c.1321C>T (p.Leu441=) c.1528C>T (p.Leu510=) n.479-21851G>A n.563+22469G>A c.1546C>T (p.Leu516=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47937173G>C | CA2911099 | CNGA1,NIPAL1 | c.1309C>G (p.Leu437Val) c.1321C>G (p.Leu441Val) c.1528C>G (p.Leu510Val) n.479-21851G>C n.563+22469G>C c.1546C>G (p.Leu516Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47937173G= | CA1455551864 | CNGA1,NIPAL1 | c.1309C= (p.Leu437=) c.1321C= (p.Leu441=) c.1528C= (p.Leu510=) n.479-21851G= n.563+22469G= c.1546C= (p.Leu516=) | |
4 | g.47937173G>T | CA356826055 | CNGA1,NIPAL1 | c.1309C>A (p.Leu437Met) c.1321C>A (p.Leu441Met) c.1528C>A (p.Leu510Met) n.479-21851G>T n.563+22469G>T c.1546C>A (p.Leu516Met) | |
4 | g.47937174G>A | CA439404085 | CNGA1,NIPAL1 | c.1308C>T (p.Tyr436=) c.1320C>T (p.Tyr440=) c.1527C>T (p.Tyr509=) n.479-21850G>A n.563+22470G>A c.1545C>T (p.Tyr515=) | |
4 | g.47937174G>C | CA356826056 | CNGA1,NIPAL1 | c.1308C>G (p.Tyr436Ter) c.1320C>G (p.Tyr440Ter) c.1527C>G (p.Tyr509Ter) n.479-21850G>C n.563+22470G>C c.1545C>G (p.Tyr515Ter) | |
4 | g.47937174G>T | CA356826058 | CNGA1,NIPAL1 | c.1308C>A (p.Tyr436Ter) c.1320C>A (p.Tyr440Ter) c.1527C>A (p.Tyr509Ter) n.479-21850G>T n.563+22470G>T c.1545C>A (p.Tyr515Ter) | gnomAD v4 |
4 | g.47937175T>A | CA356826061 | CNGA1,NIPAL1 | c.1307A>T (p.Tyr436Phe) c.1319A>T (p.Tyr440Phe) c.1526A>T (p.Tyr509Phe) n.479-21849T>A n.563+22471T>A c.1544A>T (p.Tyr515Phe) | |
4 | g.47937175T>C | CA356826062 | CNGA1,NIPAL1 | c.1307A>G (p.Tyr436Cys) c.1319A>G (p.Tyr440Cys) c.1526A>G (p.Tyr509Cys) n.479-21849T>C n.563+22471T>C c.1544A>G (p.Tyr515Cys) | |
4 | g.47937175T>G | CA356826064 | CNGA1,NIPAL1 | c.1307A>C (p.Tyr436Ser) c.1319A>C (p.Tyr440Ser) c.1526A>C (p.Tyr509Ser) n.479-21849T>G n.563+22471T>G c.1544A>C (p.Tyr515Ser) | |
4 | g.47937176A= | CA1455551865 | CNGA1,NIPAL1 | c.1306T= (p.Tyr436=) c.1318T= (p.Tyr440=) c.1525T= (p.Tyr509=) n.479-21848A= n.563+22472A= c.1543T= (p.Tyr515=) | |
4 | g.47937176A>C | CA356826069 | CNGA1,NIPAL1 | c.1306T>G (p.Tyr436Asp) c.1318T>G (p.Tyr440Asp) c.1525T>G (p.Tyr509Asp) n.479-21848A>C n.563+22472A>C c.1543T>G (p.Tyr515Asp) | |
4 | g.47937176A>G | CA356826066 | CNGA1,NIPAL1 | c.1306T>C (p.Tyr436His) c.1318T>C (p.Tyr440His) c.1525T>C (p.Tyr509His) n.479-21848A>G n.563+22472A>G c.1543T>C (p.Tyr515His) | |
4 | g.47937176A>T | CA356826068 | CNGA1,NIPAL1 | c.1306T>A (p.Tyr436Asn) c.1318T>A (p.Tyr440Asn) c.1525T>A (p.Tyr509Asn) n.479-21848A>T n.563+22472A>T c.1543T>A (p.Tyr515Asn) | dbSNP gnomAD v3 gnomAD v4 |