Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.47936409A>C | CA2670552336 | CNGA1,NIPAL1 | c.*12T>G (n.*12T>G) n.478+21705A>C n.563+21705A>C c.2292T>G (n.2292T>G) | gnomAD v4 |
4 | g.47936410G>A | CA551650451 | CNGA1,NIPAL1 | c.*11C>T (n.*11C>T) n.478+21706G>A n.563+21706G>A c.2291C>T (n.2291C>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936410G>C | CA2670552337 | CNGA1,NIPAL1 | c.*11C>G (n.*11C>G) n.478+21706G>C n.563+21706G>C c.2291C>G (n.2291C>G) | gnomAD v4 |
4 | g.47936410G= | CA1455551565 | CNGA1,NIPAL1 | c.*11C= (n.*11C=) n.478+21706G= n.563+21706G= c.2291C= (n.2291C=) | |
4 | g.47936411del | CA2578081536 | CNGA1,NIPAL1 | c.*10del (n.*10del) n.478+21707del n.563+21707del c.2290del (n.2290del) | gnomAD v4 |
4 | g.47936411C>A | CA2578081535 | CNGA1,NIPAL1 | c.*10G>T (n.*10G>T) n.478+21707C>A n.563+21707C>A c.2290G>T (n.2290G>T) | gnomAD v4 |
4 | g.47936411C= | CA1455551566 | CNGA1,NIPAL1 | c.*10G= (n.*10G=) n.478+21707C= n.563+21707C= c.2290G= (n.2290G=) | |
4 | g.47936411C>T | CA2910963 | CNGA1,NIPAL1 | c.*10G>A (n.*10G>A) n.478+21707C>T n.563+21707C>T c.2290G>A (n.2290G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936412T>G | CA795526392 | CNGA1,NIPAL1 | c.*9A>C (n.*9A>C) n.478+21708T>G n.563+21708T>G c.2289A>C (n.2289A>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47936412T= | CA1455551567 | CNGA1,NIPAL1 | c.*9A= (n.*9A=) n.478+21708T= n.563+21708T= c.2289A= (n.2289A=) | |
4 | g.47936416C= | CA1455551568 | CNGA1,NIPAL1 | c.*5G= (n.*5G=) n.478+21712C= n.563+21712C= c.2285G= (n.2285G=) | |
4 | g.47936416C>T | CA2910964 | CNGA1,NIPAL1 | c.*5G>A (n.*5G>A) n.478+21712C>T n.563+21712C>T c.2285G>A (n.2285G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936417G>A | CA2910965 | CNGA1,NIPAL1 | c.*4C>T (n.*4C>T) n.478+21713G>A n.563+21713G>A c.2284C>T (n.2284C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936417G= | CA1455551569 | CNGA1,NIPAL1 | c.*4C= (n.*4C=) n.478+21713G= n.563+21713G= c.2284C= (n.2284C=) | |
4 | g.47936417G>T | CA551650452 | CNGA1,NIPAL1 | c.*4C>A (n.*4C>A) n.478+21713G>T n.563+21713G>T c.2284C>A (n.2284C>A) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936418G>C | CA1455551571 | CNGA1,NIPAL1 | c.*3C>G (n.*3C>G) n.478+21714G>C n.563+21714G>C c.2283C>G (n.2283C>G) | dbSNP |
4 | g.47936418G= | CA1455551570 | CNGA1,NIPAL1 | c.*3C= (n.*3C=) n.478+21714G= n.563+21714G= c.2283C= (n.2283C=) | |
4 | g.47936421C>A | CA356822872 | CNGA1,NIPAL1 | c.2061G>T (p.Ter687Tyr) c.2073G>T (p.Ter691Tyr) c.2280G>T (p.Ter760Tyr) n.478+21717C>A n.563+21717C>A c.2298G>T (p.Ter766Tyr) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47936421C= | CA1455551572 | CNGA1,NIPAL1 | c.2061G= (p.Ter687=) c.2073G= (p.Ter691=) c.2280G= (p.Ter760=) n.478+21717C= n.563+21717C= c.2298G= (p.Ter766=) | |
4 | g.47936421C>G | CA356822873 | CNGA1,NIPAL1 | c.2061G>C (p.Ter687Tyr) c.2073G>C (p.Ter691Tyr) c.2280G>C (p.Ter760Tyr) n.478+21717C>G n.563+21717C>G c.2298G>C (p.Ter766Tyr) | |
4 | g.47936421C>T | CA439247943 | CNGA1,NIPAL1 | c.2061G>A (p.Ter687=) c.2073G>A (p.Ter691=) c.2280G>A (p.Ter760=) n.478+21717C>T n.563+21717C>T c.2298G>A (p.Ter766=) | |
4 | g.47936422T>A | CA356822874 | CNGA1,NIPAL1 | c.2060A>T (p.Ter687Leu) c.2072A>T (p.Ter691Leu) c.2279A>T (p.Ter760Leu) n.478+21718T>A n.563+21718T>A c.2297A>T (p.Ter766Leu) | |
4 | g.47936422T>C | CA356822876 | CNGA1,NIPAL1 | c.2060A>G (p.Ter687Trp) c.2072A>G (p.Ter691Trp) c.2279A>G (p.Ter760Trp) n.478+21718T>C n.563+21718T>C c.2297A>G (p.Ter766Trp) | |
4 | g.47936422T>G | CA356822875 | CNGA1,NIPAL1 | c.2060A>C (p.Ter687Ser) c.2072A>C (p.Ter691Ser) c.2279A>C (p.Ter760Ser) n.478+21718T>G n.563+21718T>G c.2297A>C (p.Ter766Ser) | |
4 | g.47936423A= | CA1455551573 | CNGA1,NIPAL1 | c.2059T= (p.Ter687=) c.2071T= (p.Ter691=) c.2278T= (p.Ter760=) n.478+21719A= n.563+21719A= c.2296T= (p.Ter766=) | |
4 | g.47936423A>C | CA356822877 | CNGA1,NIPAL1 | c.2059T>G (p.Ter687Glu) c.2071T>G (p.Ter691Glu) c.2278T>G (p.Ter760Glu) n.478+21719A>C n.563+21719A>C c.2296T>G (p.Ter766Glu) | |
4 | g.47936423A>G | CA356822878 | CNGA1,NIPAL1 | c.2059T>C (p.Ter687Gln) c.2071T>C (p.Ter691Gln) c.2278T>C (p.Ter760Gln) n.478+21719A>G n.563+21719A>G c.2296T>C (p.Ter766Gln) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936423A>T | CA356822879 | CNGA1,NIPAL1 | c.2059T>A (p.Ter687Lys) c.2071T>A (p.Ter691Lys) c.2278T>A (p.Ter760Lys) n.478+21719A>T n.563+21719A>T c.2296T>A (p.Ter766Lys) | |
4 | g.47936424T>A | CA439247945 | CNGA1,NIPAL1 | c.2058A>T (p.Thr686=) c.2070A>T (p.Thr690=) c.2277A>T (p.Thr759=) n.478+21720T>A n.563+21720T>A c.2295A>T (p.Thr765=) | |
4 | g.47936424T>C | CA439247946 | CNGA1,NIPAL1 | c.2058A>G (p.Thr686=) c.2070A>G (p.Thr690=) c.2277A>G (p.Thr759=) n.478+21720T>C n.563+21720T>C c.2295A>G (p.Thr765=) | |
4 | g.47936424T>G | CA439247947 | CNGA1,NIPAL1 | c.2058A>C (p.Thr686=) c.2070A>C (p.Thr690=) c.2277A>C (p.Thr759=) n.478+21720T>G n.563+21720T>G c.2295A>C (p.Thr765=) | |
4 | g.47936425G>A | CA356822880 | CNGA1,NIPAL1 | c.2057C>T (p.Thr686Ile) c.2069C>T (p.Thr690Ile) c.2276C>T (p.Thr759Ile) n.478+21721G>A n.563+21721G>A c.2294C>T (p.Thr765Ile) | |
4 | g.47936425G>C | CA356822881 | CNGA1,NIPAL1 | c.2057C>G (p.Thr686Arg) c.2069C>G (p.Thr690Arg) c.2276C>G (p.Thr759Arg) n.478+21721G>C n.563+21721G>C c.2294C>G (p.Thr765Arg) | |
4 | g.47936425G>T | CA356822882 | CNGA1,NIPAL1 | c.2057C>A (p.Thr686Lys) c.2069C>A (p.Thr690Lys) c.2276C>A (p.Thr759Lys) n.478+21721G>T n.563+21721G>T c.2294C>A (p.Thr765Lys) | |
4 | g.47936426T>A | CA356822883 | CNGA1,NIPAL1 | c.2056A>T (p.Thr686Ser) c.2068A>T (p.Thr690Ser) c.2275A>T (p.Thr759Ser) n.478+21722T>A n.563+21722T>A c.2293A>T (p.Thr765Ser) | |
4 | g.47936426T>C | CA356822884 | CNGA1,NIPAL1 | c.2056A>G (p.Thr686Ala) c.2068A>G (p.Thr690Ala) c.2275A>G (p.Thr759Ala) n.478+21722T>C n.563+21722T>C c.2293A>G (p.Thr765Ala) | |
4 | g.47936426T>G | CA356822885 | CNGA1,NIPAL1 | c.2056A>C (p.Thr686Pro) c.2068A>C (p.Thr690Pro) c.2275A>C (p.Thr759Pro) n.478+21722T>G n.563+21722T>G c.2293A>C (p.Thr765Pro) | |
4 | g.47936427A>C | CA439247949 | CNGA1,NIPAL1 | c.2055T>G (p.Ser685=) c.2067T>G (p.Ser689=) c.2274T>G (p.Ser758=) n.478+21723A>C n.563+21723A>C c.2292T>G (p.Ser764=) | |
4 | g.47936427A>G | CA439247950 | CNGA1,NIPAL1 | c.2055T>C (p.Ser685=) c.2067T>C (p.Ser689=) c.2274T>C (p.Ser758=) n.478+21723A>G n.563+21723A>G c.2292T>C (p.Ser764=) | gnomAD v4 |
4 | g.47936427A>T | CA439247951 | CNGA1,NIPAL1 | c.2055T>A (p.Ser685=) c.2067T>A (p.Ser689=) c.2274T>A (p.Ser758=) n.478+21723A>T n.563+21723A>T c.2292T>A (p.Ser764=) | |
4 | g.47936429_47936430del | CA2761332292 | CNGA1,NIPAL1 | c.2054_2055del (p.Ser685TyrfsTer21) c.2066_2067del (p.Ser689TyrfsTer21) c.2273_2274del (p.Ser758TyrfsTer21) n.478+21725_478+21726del n.563+21725_563+21726del c.2291_2292del (p.Ser764TyrfsTer21) | |
4 | g.47936428G>A | CA356822886 | CNGA1,NIPAL1 | c.2054C>T (p.Ser685Phe) c.2066C>T (p.Ser689Phe) c.2273C>T (p.Ser758Phe) n.478+21724G>A n.563+21724G>A c.2291C>T (p.Ser764Phe) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936428G>C | CA356822887 | CNGA1,NIPAL1 | c.2054C>G (p.Ser685Cys) c.2066C>G (p.Ser689Cys) c.2273C>G (p.Ser758Cys) n.478+21724G>C n.563+21724G>C c.2291C>G (p.Ser764Cys) | |
4 | g.47936428G= | CA1455551574 | CNGA1,NIPAL1 | c.2054C= (p.Ser685=) c.2066C= (p.Ser689=) c.2273C= (p.Ser758=) n.478+21724G= n.563+21724G= c.2291C= (p.Ser764=) | |
4 | g.47936428G>T | CA356822888 | CNGA1,NIPAL1 | c.2054C>A (p.Ser685Tyr) c.2066C>A (p.Ser689Tyr) c.2273C>A (p.Ser758Tyr) n.478+21724G>T n.563+21724G>T c.2291C>A (p.Ser764Tyr) | |
4 | g.47936429A= | CA1455551575 | CNGA1,NIPAL1 | c.2053T= (p.Ser685=) c.2065T= (p.Ser689=) c.2272T= (p.Ser758=) n.478+21725A= n.563+21725A= c.2290T= (p.Ser764=) | |
4 | g.47936429A>C | CA96687615 | CNGA1,NIPAL1 | c.2053T>G (p.Ser685Ala) c.2065T>G (p.Ser689Ala) c.2272T>G (p.Ser758Ala) n.478+21725A>C n.563+21725A>C c.2290T>G (p.Ser764Ala) | dbSNP gnomAD v4 |
4 | g.47936429A>G | CA356822890 | CNGA1,NIPAL1 | c.2053T>C (p.Ser685Pro) c.2065T>C (p.Ser689Pro) c.2272T>C (p.Ser758Pro) n.478+21725A>G n.563+21725A>G c.2290T>C (p.Ser764Pro) | gnomAD v4 |
4 | g.47936429A>T | CA356822889 | CNGA1,NIPAL1 | c.2053T>A (p.Ser685Thr) c.2065T>A (p.Ser689Thr) c.2272T>A (p.Ser758Thr) n.478+21725A>T n.563+21725A>T c.2290T>A (p.Ser764Thr) | |
4 | g.47936430G>A | CA439247955 | CNGA1,NIPAL1 | c.2052C>T (p.Asp684=) c.2064C>T (p.Asp688=) c.2271C>T (p.Asp757=) n.478+21726G>A n.563+21726G>A c.2289C>T (p.Asp763=) | |
4 | g.47936430G>C | CA356822891 | CNGA1,NIPAL1 | c.2052C>G (p.Asp684Glu) c.2064C>G (p.Asp688Glu) c.2271C>G (p.Asp757Glu) n.478+21726G>C n.563+21726G>C c.2289C>G (p.Asp763Glu) | |
4 | g.47936430G>T | CA356822892 | CNGA1,NIPAL1 | c.2052C>A (p.Asp684Glu) c.2064C>A (p.Asp688Glu) c.2271C>A (p.Asp757Glu) n.478+21726G>T n.563+21726G>T c.2289C>A (p.Asp763Glu) | |
4 | g.47936431T>A | CA356822893 | CNGA1,NIPAL1 | c.2051A>T (p.Asp684Val) c.2063A>T (p.Asp688Val) c.2270A>T (p.Asp757Val) n.478+21727T>A n.563+21727T>A c.2288A>T (p.Asp763Val) | ClinVar |
4 | g.47936431T>C | CA356822894 | CNGA1,NIPAL1 | c.2051A>G (p.Asp684Gly) c.2063A>G (p.Asp688Gly) c.2270A>G (p.Asp757Gly) n.478+21727T>C n.563+21727T>C c.2288A>G (p.Asp763Gly) | |
4 | g.47936431T>G | CA356822895 | CNGA1,NIPAL1 | c.2051A>C (p.Asp684Ala) c.2063A>C (p.Asp688Ala) c.2270A>C (p.Asp757Ala) n.478+21727T>G n.563+21727T>G c.2288A>C (p.Asp763Ala) | |
4 | g.47936432C>A | CA356822896 | CNGA1,NIPAL1 | c.2050G>T (p.Asp684Tyr) c.2062G>T (p.Asp688Tyr) c.2269G>T (p.Asp757Tyr) n.478+21728C>A n.563+21728C>A c.2287G>T (p.Asp763Tyr) | |
4 | g.47936432C= | CA1455551576 | CNGA1,NIPAL1 | c.2050G= (p.Asp684=) c.2062G= (p.Asp688=) c.2269G= (p.Asp757=) n.478+21728C= n.563+21728C= c.2287G= (p.Asp763=) | |
4 | g.47936432C>G | CA96687628 | CNGA1,NIPAL1 | c.2050G>C (p.Asp684His) c.2062G>C (p.Asp688His) c.2269G>C (p.Asp757His) n.478+21728C>G n.563+21728C>G c.2287G>C (p.Asp763His) | dbSNP |
4 | g.47936432C>T | CA96687652 | CNGA1,NIPAL1 | c.2050G>A (p.Asp684Asn) c.2062G>A (p.Asp688Asn) c.2269G>A (p.Asp757Asn) n.478+21728C>T n.563+21728C>T c.2287G>A (p.Asp763Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
4 | g.47936433G>A | CA2910966 | CNGA1,NIPAL1 | c.2049C>T (p.Ile683=) c.2061C>T (p.Ile687=) c.2268C>T (p.Ile756=) n.478+21729G>A n.563+21729G>A c.2286C>T (p.Ile762=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936433G>C | CA356822897 | CNGA1,NIPAL1 | c.2049C>G (p.Ile683Met) c.2061C>G (p.Ile687Met) c.2268C>G (p.Ile756Met) n.478+21729G>C n.563+21729G>C c.2286C>G (p.Ile762Met) | |
4 | g.47936433G= | CA1455551577 | CNGA1,NIPAL1 | c.2049C= (p.Ile683=) c.2061C= (p.Ile687=) c.2268C= (p.Ile756=) n.478+21729G= n.563+21729G= c.2286C= (p.Ile762=) | |
4 | g.47936433G>T | CA2910967 | CNGA1,NIPAL1 | c.2049C>A (p.Ile683=) c.2061C>A (p.Ile687=) c.2268C>A (p.Ile756=) n.478+21729G>T n.563+21729G>T c.2286C>A (p.Ile762=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936434A>C | CA356822898 | CNGA1,NIPAL1 | c.2048T>G (p.Ile683Ser) c.2060T>G (p.Ile687Ser) c.2267T>G (p.Ile756Ser) n.478+21730A>C n.563+21730A>C c.2285T>G (p.Ile762Ser) | |
4 | g.47936434A>G | CA356822899 | CNGA1,NIPAL1 | c.2048T>C (p.Ile683Thr) c.2060T>C (p.Ile687Thr) c.2267T>C (p.Ile756Thr) n.478+21730A>G n.563+21730A>G c.2285T>C (p.Ile762Thr) | |
4 | g.47936434A>T | CA356822900 | CNGA1,NIPAL1 | c.2048T>A (p.Ile683Asn) c.2060T>A (p.Ile687Asn) c.2267T>A (p.Ile756Asn) n.478+21730A>T n.563+21730A>T c.2285T>A (p.Ile762Asn) | |
4 | g.47936435T>A | CA356822901 | CNGA1,NIPAL1 | c.2047A>T (p.Ile683Phe) c.2059A>T (p.Ile687Phe) c.2266A>T (p.Ile756Phe) n.478+21731T>A n.563+21731T>A c.2284A>T (p.Ile762Phe) | |
4 | g.47936435T>C | CA356822903 | CNGA1,NIPAL1 | c.2047A>G (p.Ile683Val) c.2059A>G (p.Ile687Val) c.2266A>G (p.Ile756Val) n.478+21731T>C n.563+21731T>C c.2284A>G (p.Ile762Val) | gnomAD v4 COSMIC |
4 | g.47936435T>G | CA356822902 | CNGA1,NIPAL1 | c.2047A>C (p.Ile683Leu) c.2059A>C (p.Ile687Leu) c.2266A>C (p.Ile756Leu) n.478+21731T>G n.563+21731T>G c.2284A>C (p.Ile762Leu) | ClinVar dbSNP |
4 | g.47936436G>A | CA2910968 | CNGA1,NIPAL1 | c.2046C>T (p.Pro682=) c.2058C>T (p.Pro686=) c.2265C>T (p.Pro755=) n.478+21732G>A n.563+21732G>A c.2283C>T (p.Pro761=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936436G>C | CA439247957 | CNGA1,NIPAL1 | c.2046C>G (p.Pro682=) c.2058C>G (p.Pro686=) c.2265C>G (p.Pro755=) n.478+21732G>C n.563+21732G>C c.2283C>G (p.Pro761=) | ClinVar gnomAD v4 |
4 | g.47936436G= | CA1455551578 | CNGA1,NIPAL1 | c.2046C= (p.Pro682=) c.2058C= (p.Pro686=) c.2265C= (p.Pro755=) n.478+21732G= n.563+21732G= c.2283C= (p.Pro761=) | |
4 | g.47936436G>T | CA439247959 | CNGA1,NIPAL1 | c.2046C>A (p.Pro682=) c.2058C>A (p.Pro686=) c.2265C>A (p.Pro755=) n.478+21732G>T n.563+21732G>T c.2283C>A (p.Pro761=) | |
4 | g.47936437G>A | CA356822904 | CNGA1,NIPAL1 | c.2045C>T (p.Pro682Leu) c.2057C>T (p.Pro686Leu) c.2264C>T (p.Pro755Leu) n.478+21733G>A n.563+21733G>A c.2282C>T (p.Pro761Leu) | |
4 | g.47936437G>C | CA356822905 | CNGA1,NIPAL1 | c.2045C>G (p.Pro682Arg) c.2057C>G (p.Pro686Arg) c.2264C>G (p.Pro755Arg) n.478+21733G>C n.563+21733G>C c.2282C>G (p.Pro761Arg) | |
4 | g.47936437G>T | CA356822906 | CNGA1,NIPAL1 | c.2045C>A (p.Pro682His) c.2057C>A (p.Pro686His) c.2264C>A (p.Pro755His) n.478+21733G>T n.563+21733G>T c.2282C>A (p.Pro761His) | |
4 | g.47936438G>A | CA356822907 | CNGA1,NIPAL1 | c.2044C>T (p.Pro682Ser) c.2056C>T (p.Pro686Ser) c.2263C>T (p.Pro755Ser) n.478+21734G>A n.563+21734G>A c.2281C>T (p.Pro761Ser) | |
4 | g.47936438G>C | CA356822908 | CNGA1,NIPAL1 | c.2044C>G (p.Pro682Ala) c.2056C>G (p.Pro686Ala) c.2263C>G (p.Pro755Ala) n.478+21734G>C n.563+21734G>C c.2281C>G (p.Pro761Ala) | |
4 | g.47936438G>T | CA356822909 | CNGA1,NIPAL1 | c.2044C>A (p.Pro682Thr) c.2056C>A (p.Pro686Thr) c.2263C>A (p.Pro755Thr) n.478+21734G>T n.563+21734G>T c.2281C>A (p.Pro761Thr) | |
4 | g.47936439C>A | CA439247966 | CNGA1,NIPAL1 | c.2043G>T (p.Gly681=) c.2055G>T (p.Gly685=) c.2262G>T (p.Gly754=) n.478+21735C>A n.563+21735C>A c.2280G>T (p.Gly760=) | |
4 | g.47936439C>G | CA439247968 | CNGA1,NIPAL1 | c.2043G>C (p.Gly681=) c.2055G>C (p.Gly685=) c.2262G>C (p.Gly754=) n.478+21735C>G n.563+21735C>G c.2280G>C (p.Gly760=) | |
4 | g.47936439C>T | CA439247970 | CNGA1,NIPAL1 | c.2043G>A (p.Gly681=) c.2055G>A (p.Gly685=) c.2262G>A (p.Gly754=) n.478+21735C>T n.563+21735C>T c.2280G>A (p.Gly760=) | |
4 | g.47936440C>A | CA356822910 | CNGA1,NIPAL1 | c.2042G>T (p.Gly681Val) c.2054G>T (p.Gly685Val) c.2261G>T (p.Gly754Val) n.478+21736C>A n.563+21736C>A c.2279G>T (p.Gly760Val) | |
4 | g.47936440C= | CA1455551579 | CNGA1,NIPAL1 | c.2042G= (p.Gly681=) c.2054G= (p.Gly685=) c.2261G= (p.Gly754=) n.478+21736C= n.563+21736C= c.2279G= (p.Gly760=) | |
4 | g.47936440C>G | CA356822911 | CNGA1,NIPAL1 | c.2042G>C (p.Gly681Ala) c.2054G>C (p.Gly685Ala) c.2261G>C (p.Gly754Ala) n.478+21736C>G n.563+21736C>G c.2279G>C (p.Gly760Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.47936440C>T | CA356822912 | CNGA1,NIPAL1 | c.2042G>A (p.Gly681Glu) c.2054G>A (p.Gly685Glu) c.2261G>A (p.Gly754Glu) n.478+21736C>T n.563+21736C>T c.2279G>A (p.Gly760Glu) | |
4 | g.47936441C>A | CA356822913 | CNGA1,NIPAL1 | c.2041G>T (p.Gly681Trp) c.2053G>T (p.Gly685Trp) c.2260G>T (p.Gly754Trp) n.478+21737C>A n.563+21737C>A c.2278G>T (p.Gly760Trp) | |
4 | g.47936441C>G | CA356822915 | CNGA1,NIPAL1 | c.2041G>C (p.Gly681Arg) c.2053G>C (p.Gly685Arg) c.2260G>C (p.Gly754Arg) n.478+21737C>G n.563+21737C>G c.2278G>C (p.Gly760Arg) | |
4 | g.47936441C>T | CA356822914 | CNGA1,NIPAL1 | c.2041G>A (p.Gly681Arg) c.2053G>A (p.Gly685Arg) c.2260G>A (p.Gly754Arg) n.478+21737C>T n.563+21737C>T c.2278G>A (p.Gly760Arg) | |
4 | g.47936442A>C | CA356822916 | CNGA1,NIPAL1 | c.2040T>G (p.Ser680Arg) c.2052T>G (p.Ser684Arg) c.2259T>G (p.Ser753Arg) n.478+21738A>C n.563+21738A>C c.2277T>G (p.Ser759Arg) | |
4 | g.47936442A>G | CA439247974 | CNGA1,NIPAL1 | c.2040T>C (p.Ser680=) c.2052T>C (p.Ser684=) c.2259T>C (p.Ser753=) n.478+21738A>G n.563+21738A>G c.2277T>C (p.Ser759=) | |
4 | g.47936442A>T | CA356822917 | CNGA1,NIPAL1 | c.2040T>A (p.Ser680Arg) c.2052T>A (p.Ser684Arg) c.2259T>A (p.Ser753Arg) n.478+21738A>T n.563+21738A>T c.2277T>A (p.Ser759Arg) | |
4 | g.47936443C>A | CA356822918 | CNGA1,NIPAL1 | c.2039G>T (p.Ser680Ile) c.2051G>T (p.Ser684Ile) c.2258G>T (p.Ser753Ile) n.478+21739C>A n.563+21739C>A c.2276G>T (p.Ser759Ile) | |
4 | g.47936443C>G | CA356822919 | CNGA1,NIPAL1 | c.2039G>C (p.Ser680Thr) c.2051G>C (p.Ser684Thr) c.2258G>C (p.Ser753Thr) n.478+21739C>G n.563+21739C>G c.2276G>C (p.Ser759Thr) | |
4 | g.47936443C>T | CA356822920 | CNGA1,NIPAL1 | c.2039G>A (p.Ser680Asn) c.2051G>A (p.Ser684Asn) c.2258G>A (p.Ser753Asn) n.478+21739C>T n.563+21739C>T c.2276G>A (p.Ser759Asn) | |
4 | g.47936444T>A | CA356822921 | CNGA1,NIPAL1 | c.2038A>T (p.Ser680Cys) c.2050A>T (p.Ser684Cys) c.2257A>T (p.Ser753Cys) n.478+21740T>A n.563+21740T>A c.2275A>T (p.Ser759Cys) | |
4 | g.47936444T>C | CA356822922 | CNGA1,NIPAL1 | c.2038A>G (p.Ser680Gly) c.2050A>G (p.Ser684Gly) c.2257A>G (p.Ser753Gly) n.478+21740T>C n.563+21740T>C c.2275A>G (p.Ser759Gly) | dbSNP |
4 | g.47936444T>G | CA356822923 | CNGA1,NIPAL1 | c.2038A>C (p.Ser680Arg) c.2050A>C (p.Ser684Arg) c.2257A>C (p.Ser753Arg) n.478+21740T>G n.563+21740T>G c.2275A>C (p.Ser759Arg) | |
4 | g.47936444T= | CA1455551580 | CNGA1,NIPAL1 | c.2038A= (p.Ser680=) c.2050A= (p.Ser684=) c.2257A= (p.Ser753=) n.478+21740T= n.563+21740T= c.2275A= (p.Ser759=) | |
4 | g.47936445T>A | CA356822924 | CNGA1,NIPAL1 | c.2037A>T (p.Glu679Asp) c.2049A>T (p.Glu683Asp) c.2256A>T (p.Glu752Asp) n.478+21741T>A n.563+21741T>A c.2274A>T (p.Glu758Asp) | |
4 | g.47936445T>C | CA439247976 | CNGA1,NIPAL1 | c.2037A>G (p.Glu679=) c.2049A>G (p.Glu683=) c.2256A>G (p.Glu752=) n.478+21741T>C n.563+21741T>C c.2274A>G (p.Glu758=) | |
4 | g.47936445T>G | CA356822925 | CNGA1,NIPAL1 | c.2037A>C (p.Glu679Asp) c.2049A>C (p.Glu683Asp) c.2256A>C (p.Glu752Asp) n.478+21741T>G n.563+21741T>G c.2274A>C (p.Glu758Asp) | |
4 | g.47936446T>A | CA356822926 | CNGA1,NIPAL1 | c.2036A>T (p.Glu679Val) c.2048A>T (p.Glu683Val) c.2255A>T (p.Glu752Val) n.478+21742T>A n.563+21742T>A c.2273A>T (p.Glu758Val) | |
4 | g.47936446T>C | CA356822927 | CNGA1,NIPAL1 | c.2036A>G (p.Glu679Gly) c.2048A>G (p.Glu683Gly) c.2255A>G (p.Glu752Gly) n.478+21742T>C n.563+21742T>C c.2273A>G (p.Glu758Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936446T>G | CA356822928 | CNGA1,NIPAL1 | c.2036A>C (p.Glu679Ala) c.2048A>C (p.Glu683Ala) c.2255A>C (p.Glu752Ala) n.478+21742T>G n.563+21742T>G c.2273A>C (p.Glu758Ala) | |
4 | g.47936446T= | CA1455551581 | CNGA1,NIPAL1 | c.2036A= (p.Glu679=) c.2048A= (p.Glu683=) c.2255A= (p.Glu752=) n.478+21742T= n.563+21742T= c.2273A= (p.Glu758=) | |
4 | g.47936447C>A | CA356822931 | CNGA1,NIPAL1 | c.2035G>T (p.Glu679Ter) c.2047G>T (p.Glu683Ter) c.2254G>T (p.Glu752Ter) n.478+21743C>A n.563+21743C>A c.2272G>T (p.Glu758Ter) | |
4 | g.47936447C>G | CA356822930 | CNGA1,NIPAL1 | c.2035G>C (p.Glu679Gln) c.2047G>C (p.Glu683Gln) c.2254G>C (p.Glu752Gln) n.478+21743C>G n.563+21743C>G c.2272G>C (p.Glu758Gln) | |
4 | g.47936447C>T | CA356822929 | CNGA1,NIPAL1 | c.2035G>A (p.Glu679Lys) c.2047G>A (p.Glu683Lys) c.2254G>A (p.Glu752Lys) n.478+21743C>T n.563+21743C>T c.2272G>A (p.Glu758Lys) | |
4 | g.47936448C>A | CA439247981 | CNGA1,NIPAL1 | c.2034G>T (p.Ala678=) c.2046G>T (p.Ala682=) c.2253G>T (p.Ala751=) n.478+21744C>A n.563+21744C>A c.2271G>T (p.Ala757=) | |
4 | g.47936448C= | CA1455551582 | CNGA1,NIPAL1 | c.2034G= (p.Ala678=) c.2046G= (p.Ala682=) c.2253G= (p.Ala751=) n.478+21744C= n.563+21744C= c.2271G= (p.Ala757=) | |
4 | g.47936448C>G | CA439247982 | CNGA1,NIPAL1 | c.2034G>C (p.Ala678=) c.2046G>C (p.Ala682=) c.2253G>C (p.Ala751=) n.478+21744C>G n.563+21744C>G c.2271G>C (p.Ala757=) | |
4 | g.47936448C>T | CA2910969 | CNGA1,NIPAL1 | c.2034G>A (p.Ala678=) c.2046G>A (p.Ala682=) c.2253G>A (p.Ala751=) n.478+21744C>T n.563+21744C>T c.2271G>A (p.Ala757=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936449G>A | CA2910970 | CNGA1,NIPAL1 | c.2033C>T (p.Ala678Val) c.2045C>T (p.Ala682Val) c.2252C>T (p.Ala751Val) n.478+21745G>A n.563+21745G>A c.2270C>T (p.Ala757Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936449G>C | CA356822932 | CNGA1,NIPAL1 | c.2033C>G (p.Ala678Gly) c.2045C>G (p.Ala682Gly) c.2252C>G (p.Ala751Gly) n.478+21745G>C n.563+21745G>C c.2270C>G (p.Ala757Gly) | COSMIC COSMIC |
4 | g.47936449G= | CA1455551583 | CNGA1,NIPAL1 | c.2033C= (p.Ala678=) c.2045C= (p.Ala682=) c.2252C= (p.Ala751=) n.478+21745G= n.563+21745G= c.2270C= (p.Ala757=) | |
4 | g.47936449G>T | CA356822933 | CNGA1,NIPAL1 | c.2033C>A (p.Ala678Glu) c.2045C>A (p.Ala682Glu) c.2252C>A (p.Ala751Glu) n.478+21745G>T n.563+21745G>T c.2270C>A (p.Ala757Glu) | |
4 | g.47936450C>A | CA356822934 | CNGA1,NIPAL1 | c.2032G>T (p.Ala678Ser) c.2044G>T (p.Ala682Ser) c.2251G>T (p.Ala751Ser) n.478+21746C>A n.563+21746C>A c.2269G>T (p.Ala757Ser) | |
4 | g.47936450C>G | CA356822935 | CNGA1,NIPAL1 | c.2032G>C (p.Ala678Pro) c.2044G>C (p.Ala682Pro) c.2251G>C (p.Ala751Pro) n.478+21746C>G n.563+21746C>G c.2269G>C (p.Ala757Pro) | |
4 | g.47936450C>T | CA356822936 | CNGA1,NIPAL1 | c.2032G>A (p.Ala678Thr) c.2044G>A (p.Ala682Thr) c.2251G>A (p.Ala751Thr) n.478+21746C>T n.563+21746C>T c.2269G>A (p.Ala757Thr) | |
4 | g.47936451T>A | CA439247985 | CNGA1,NIPAL1 | c.2031A>T (p.Gly677=) c.2043A>T (p.Gly681=) c.2250A>T (p.Gly750=) n.478+21747T>A n.563+21747T>A c.2268A>T (p.Gly756=) | |
4 | g.47936451T>C | CA439247987 | CNGA1,NIPAL1 | c.2031A>G (p.Gly677=) c.2043A>G (p.Gly681=) c.2250A>G (p.Gly750=) n.478+21747T>C n.563+21747T>C c.2268A>G (p.Gly756=) | |
4 | g.47936451T>G | CA439247988 | CNGA1,NIPAL1 | c.2031A>C (p.Gly677=) c.2043A>C (p.Gly681=) c.2250A>C (p.Gly750=) n.478+21747T>G n.563+21747T>G c.2268A>C (p.Gly756=) | |
4 | g.47936452C>A | CA356822937 | CNGA1,NIPAL1 | c.2030G>T (p.Gly677Val) c.2042G>T (p.Gly681Val) c.2249G>T (p.Gly750Val) n.478+21748C>A n.563+21748C>A c.2267G>T (p.Gly756Val) | |
4 | g.47936452C= | CA1455551584 | CNGA1,NIPAL1 | c.2030G= (p.Gly677=) c.2042G= (p.Gly681=) c.2249G= (p.Gly750=) n.478+21748C= n.563+21748C= c.2267G= (p.Gly756=) | |
4 | g.47936452C>G | CA2910971 | CNGA1,NIPAL1 | c.2030G>C (p.Gly677Ala) c.2042G>C (p.Gly681Ala) c.2249G>C (p.Gly750Ala) n.478+21748C>G n.563+21748C>G c.2267G>C (p.Gly756Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936452C>T | CA356822938 | CNGA1,NIPAL1 | c.2030G>A (p.Gly677Glu) c.2042G>A (p.Gly681Glu) c.2249G>A (p.Gly750Glu) n.478+21748C>T n.563+21748C>T c.2267G>A (p.Gly756Glu) | |
4 | g.47936453C>A | CA356822939 | CNGA1,NIPAL1 | c.2029G>T (p.Gly677Ter) c.2041G>T (p.Gly681Ter) c.2248G>T (p.Gly750Ter) n.478+21749C>A n.563+21749C>A c.2266G>T (p.Gly756Ter) | |
4 | g.47936453C>G | CA356822940 | CNGA1,NIPAL1 | c.2029G>C (p.Gly677Arg) c.2041G>C (p.Gly681Arg) c.2248G>C (p.Gly750Arg) n.478+21749C>G n.563+21749C>G c.2266G>C (p.Gly756Arg) | |
4 | g.47936453C>T | CA356822941 | CNGA1,NIPAL1 | c.2029G>A (p.Gly677Arg) c.2041G>A (p.Gly681Arg) c.2248G>A (p.Gly750Arg) n.478+21749C>T n.563+21749C>T c.2266G>A (p.Gly756Arg) | |
4 | g.47936454A>C | CA439247990 | CNGA1,NIPAL1 | c.2028T>G (p.Pro676=) c.2040T>G (p.Pro680=) c.2247T>G (p.Pro749=) n.478+21750A>C n.563+21750A>C c.2265T>G (p.Pro755=) | |
4 | g.47936454A>G | CA439247991 | CNGA1,NIPAL1 | c.2028T>C (p.Pro676=) c.2040T>C (p.Pro680=) c.2247T>C (p.Pro749=) n.478+21750A>G n.563+21750A>G c.2265T>C (p.Pro755=) | |
4 | g.47936454A>T | CA439247992 | CNGA1,NIPAL1 | c.2028T>A (p.Pro676=) c.2040T>A (p.Pro680=) c.2247T>A (p.Pro749=) n.478+21750A>T n.563+21750A>T c.2265T>A (p.Pro755=) | |
4 | g.47936455G>A | CA2910972 | CNGA1,NIPAL1 | c.2027C>T (p.Pro676Leu) c.2039C>T (p.Pro680Leu) c.2246C>T (p.Pro749Leu) n.478+21751G>A n.563+21751G>A c.2264C>T (p.Pro755Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936455G>C | CA356822943 | CNGA1,NIPAL1 | c.2027C>G (p.Pro676Arg) c.2039C>G (p.Pro680Arg) c.2246C>G (p.Pro749Arg) n.478+21751G>C n.563+21751G>C c.2264C>G (p.Pro755Arg) | |
4 | g.47936455G= | CA1455551585 | CNGA1,NIPAL1 | c.2027C= (p.Pro676=) c.2039C= (p.Pro680=) c.2246C= (p.Pro749=) n.478+21751G= n.563+21751G= c.2264C= (p.Pro755=) | |
4 | g.47936455G>T | CA356822942 | CNGA1,NIPAL1 | c.2027C>A (p.Pro676His) c.2039C>A (p.Pro680His) c.2246C>A (p.Pro749His) n.478+21751G>T n.563+21751G>T c.2264C>A (p.Pro755His) | |
4 | g.47936456G>A | CA356822944 | CNGA1,NIPAL1 | c.2026C>T (p.Pro676Ser) c.2038C>T (p.Pro680Ser) c.2245C>T (p.Pro749Ser) n.478+21752G>A n.563+21752G>A c.2263C>T (p.Pro755Ser) | |
4 | g.47936456G>C | CA356822945 | CNGA1,NIPAL1 | c.2026C>G (p.Pro676Ala) c.2038C>G (p.Pro680Ala) c.2245C>G (p.Pro749Ala) n.478+21752G>C n.563+21752G>C c.2263C>G (p.Pro755Ala) | |
4 | g.47936456G>T | CA356822946 | CNGA1,NIPAL1 | c.2026C>A (p.Pro676Thr) c.2038C>A (p.Pro680Thr) c.2245C>A (p.Pro749Thr) n.478+21752G>T n.563+21752G>T c.2263C>A (p.Pro755Thr) | |
4 | g.47936457T>A | CA439247997 | CNGA1,NIPAL1 | c.2025A>T (p.Gly675=) c.2037A>T (p.Gly679=) c.2244A>T (p.Gly748=) n.478+21753T>A n.563+21753T>A c.2262A>T (p.Gly754=) | |
4 | g.47936457T>C | CA439247998 | CNGA1,NIPAL1 | c.2025A>G (p.Gly675=) c.2037A>G (p.Gly679=) c.2244A>G (p.Gly748=) n.478+21753T>C n.563+21753T>C c.2262A>G (p.Gly754=) | |
4 | g.47936457T>G | CA439247999 | CNGA1,NIPAL1 | c.2025A>C (p.Gly675=) c.2037A>C (p.Gly679=) c.2244A>C (p.Gly748=) n.478+21753T>G n.563+21753T>G c.2262A>C (p.Gly754=) | |
4 | g.47936458C>A | CA356822947 | CNGA1,NIPAL1 | c.2024G>T (p.Gly675Val) c.2036G>T (p.Gly679Val) c.2243G>T (p.Gly748Val) n.478+21754C>A n.563+21754C>A c.2261G>T (p.Gly754Val) | |
4 | g.47936458C= | CA1455551586 | CNGA1,NIPAL1 | c.2024G= (p.Gly675=) c.2036G= (p.Gly679=) c.2243G= (p.Gly748=) n.478+21754C= n.563+21754C= c.2261G= (p.Gly754=) | |
4 | g.47936458C>G | CA356822948 | CNGA1,NIPAL1 | c.2024G>C (p.Gly675Ala) c.2036G>C (p.Gly679Ala) c.2243G>C (p.Gly748Ala) n.478+21754C>G n.563+21754C>G c.2261G>C (p.Gly754Ala) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936458C>T | CA356822949 | CNGA1,NIPAL1 | c.2024G>A (p.Gly675Glu) c.2036G>A (p.Gly679Glu) c.2243G>A (p.Gly748Glu) n.478+21754C>T n.563+21754C>T c.2261G>A (p.Gly754Glu) | gnomAD v4 COSMIC COSMIC |
4 | g.47936459C>A | CA96687724 | CNGA1,NIPAL1 | c.2023G>T (p.Gly675Ter) c.2035G>T (p.Gly679Ter) c.2242G>T (p.Gly748Ter) n.478+21755C>A n.563+21755C>A c.2260G>T (p.Gly754Ter) | dbSNP |
4 | g.47936459C= | CA1455551587 | CNGA1,NIPAL1 | c.2023G= (p.Gly675=) c.2035G= (p.Gly679=) c.2242G= (p.Gly748=) n.478+21755C= n.563+21755C= c.2260G= (p.Gly754=) | |
4 | g.47936459C>G | CA356822950 | CNGA1,NIPAL1 | c.2023G>C (p.Gly675Arg) c.2035G>C (p.Gly679Arg) c.2242G>C (p.Gly748Arg) n.478+21755C>G n.563+21755C>G c.2260G>C (p.Gly754Arg) | gnomAD v4 |
4 | g.47936459C>T | CA356822951 | CNGA1,NIPAL1 | c.2023G>A (p.Gly675Arg) c.2035G>A (p.Gly679Arg) c.2242G>A (p.Gly748Arg) n.478+21755C>T n.563+21755C>T c.2260G>A (p.Gly754Arg) | |
4 | g.47936460C>A | CA356822952 | CNGA1,NIPAL1 | c.2022G>T (p.Glu674Asp) c.2034G>T (p.Glu678Asp) c.2241G>T (p.Glu747Asp) n.478+21756C>A n.563+21756C>A c.2259G>T (p.Glu753Asp) | |
4 | g.47936460C= | CA1455551588 | CNGA1,NIPAL1 | c.2022G= (p.Glu674=) c.2034G= (p.Glu678=) c.2241G= (p.Glu747=) n.478+21756C= n.563+21756C= c.2259G= (p.Glu753=) | |
4 | g.47936460C>G | CA356822953 | CNGA1,NIPAL1 | c.2022G>C (p.Glu674Asp) c.2034G>C (p.Glu678Asp) c.2241G>C (p.Glu747Asp) n.478+21756C>G n.563+21756C>G c.2259G>C (p.Glu753Asp) | dbSNP gnomAD v4 |
4 | g.47936460C>T | CA439248003 | CNGA1,NIPAL1 | c.2022G>A (p.Glu674=) c.2034G>A (p.Glu678=) c.2241G>A (p.Glu747=) n.478+21756C>T n.563+21756C>T c.2259G>A (p.Glu753=) | |
4 | g.47936461T>A | CA356822956 | CNGA1,NIPAL1 | c.2021A>T (p.Glu674Val) c.2033A>T (p.Glu678Val) c.2240A>T (p.Glu747Val) n.478+21757T>A n.563+21757T>A c.2258A>T (p.Glu753Val) | |
4 | g.47936461T>C | CA356822955 | CNGA1,NIPAL1 | c.2021A>G (p.Glu674Gly) c.2033A>G (p.Glu678Gly) c.2240A>G (p.Glu747Gly) n.478+21757T>C n.563+21757T>C c.2258A>G (p.Glu753Gly) | |
4 | g.47936461T>G | CA356822954 | CNGA1,NIPAL1 | c.2021A>C (p.Glu674Ala) c.2033A>C (p.Glu678Ala) c.2240A>C (p.Glu747Ala) n.478+21757T>G n.563+21757T>G c.2258A>C (p.Glu753Ala) | |
4 | g.47936462C>A | CA356822957 | CNGA1,NIPAL1 | c.2020G>T (p.Glu674Ter) c.2032G>T (p.Glu678Ter) c.2239G>T (p.Glu747Ter) n.478+21758C>A n.563+21758C>A c.2257G>T (p.Glu753Ter) | |
4 | g.47936462C= | CA1455551589 | CNGA1,NIPAL1 | c.2020G= (p.Glu674=) c.2032G= (p.Glu678=) c.2239G= (p.Glu747=) n.478+21758C= n.563+21758C= c.2257G= (p.Glu753=) | |
4 | g.47936462C>G | CA356822958 | CNGA1,NIPAL1 | c.2020G>C (p.Glu674Gln) c.2032G>C (p.Glu678Gln) c.2239G>C (p.Glu747Gln) n.478+21758C>G n.563+21758C>G c.2257G>C (p.Glu753Gln) | |
4 | g.47936462C>T | CA96687730 | CNGA1,NIPAL1 | c.2020G>A (p.Glu674Lys) c.2032G>A (p.Glu678Lys) c.2239G>A (p.Glu747Lys) n.478+21758C>T n.563+21758C>T c.2257G>A (p.Glu753Lys) | dbSNP gnomAD v4 |
4 | g.47936463A>C | CA356822959 | CNGA1,NIPAL1 | c.2019T>G (p.Ile673Met) c.2031T>G (p.Ile677Met) c.2238T>G (p.Ile746Met) n.478+21759A>C n.563+21759A>C c.2256T>G (p.Ile752Met) | |
4 | g.47936463A>G | CA439248006 | CNGA1,NIPAL1 | c.2019T>C (p.Ile673=) c.2031T>C (p.Ile677=) c.2238T>C (p.Ile746=) n.478+21759A>G n.563+21759A>G c.2256T>C (p.Ile752=) | gnomAD v4 |
4 | g.47936463A>T | CA439248007 | CNGA1,NIPAL1 | c.2019T>A (p.Ile673=) c.2031T>A (p.Ile677=) c.2238T>A (p.Ile746=) n.478+21759A>T n.563+21759A>T c.2256T>A (p.Ile752=) | |
4 | g.47936464A= | CA1455551590 | CNGA1,NIPAL1 | c.2018T= (p.Ile673=) c.2030T= (p.Ile677=) c.2237T= (p.Ile746=) n.478+21760A= n.563+21760A= c.2255T= (p.Ile752=) | |
4 | g.47936464A>C | CA356822960 | CNGA1,NIPAL1 | c.2018T>G (p.Ile673Ser) c.2030T>G (p.Ile677Ser) c.2237T>G (p.Ile746Ser) n.478+21760A>C n.563+21760A>C c.2255T>G (p.Ile752Ser) | |
4 | g.47936464A>G | CA2910973 | CNGA1,NIPAL1 | c.2018T>C (p.Ile673Thr) c.2030T>C (p.Ile677Thr) c.2237T>C (p.Ile746Thr) n.478+21760A>G n.563+21760A>G c.2255T>C (p.Ile752Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936464A>T | CA356822961 | CNGA1,NIPAL1 | c.2018T>A (p.Ile673Asn) c.2030T>A (p.Ile677Asn) c.2237T>A (p.Ile746Asn) n.478+21760A>T n.563+21760A>T c.2255T>A (p.Ile752Asn) | |
4 | g.47936465T>A | CA356822962 | CNGA1,NIPAL1 | c.2017A>T (p.Ile673Phe) c.2029A>T (p.Ile677Phe) c.2236A>T (p.Ile746Phe) n.478+21761T>A n.563+21761T>A c.2254A>T (p.Ile752Phe) | |
4 | g.47936465T>C | CA356822963 | CNGA1,NIPAL1 | c.2017A>G (p.Ile673Val) c.2029A>G (p.Ile677Val) c.2236A>G (p.Ile746Val) n.478+21761T>C n.563+21761T>C c.2254A>G (p.Ile752Val) | |
4 | g.47936465T>G | CA356822964 | CNGA1,NIPAL1 | c.2017A>C (p.Ile673Leu) c.2029A>C (p.Ile677Leu) c.2236A>C (p.Ile746Leu) n.478+21761T>G n.563+21761T>G c.2254A>C (p.Ile752Leu) | |
4 | g.47936466A>C | CA356822965 | CNGA1,NIPAL1 | c.2016T>G (p.Ser672Arg) c.2028T>G (p.Ser676Arg) c.2235T>G (p.Ser745Arg) n.478+21762A>C n.563+21762A>C c.2253T>G (p.Ser751Arg) | |
4 | g.47936466A>G | CA439248008 | CNGA1,NIPAL1 | c.2016T>C (p.Ser672=) c.2028T>C (p.Ser676=) c.2235T>C (p.Ser745=) n.478+21762A>G n.563+21762A>G c.2253T>C (p.Ser751=) | |
4 | g.47936466A>T | CA356822966 | CNGA1,NIPAL1 | c.2016T>A (p.Ser672Arg) c.2028T>A (p.Ser676Arg) c.2235T>A (p.Ser745Arg) n.478+21762A>T n.563+21762A>T c.2253T>A (p.Ser751Arg) | |
4 | g.47936467C>A | CA356822968 | CNGA1,NIPAL1 | c.2015G>T (p.Ser672Ile) c.2027G>T (p.Ser676Ile) c.2234G>T (p.Ser745Ile) n.478+21763C>A n.563+21763C>A c.2252G>T (p.Ser751Ile) | |
4 | g.47936467C>G | CA356822969 | CNGA1,NIPAL1 | c.2015G>C (p.Ser672Thr) c.2027G>C (p.Ser676Thr) c.2234G>C (p.Ser745Thr) n.478+21763C>G n.563+21763C>G c.2252G>C (p.Ser751Thr) | |
4 | g.47936467C>T | CA356822967 | CNGA1,NIPAL1 | c.2015G>A (p.Ser672Asn) c.2027G>A (p.Ser676Asn) c.2234G>A (p.Ser745Asn) n.478+21763C>T n.563+21763C>T c.2252G>A (p.Ser751Asn) | |
4 | g.47936468T>A | CA356822972 | CNGA1,NIPAL1 | c.2014A>T (p.Ser672Cys) c.2026A>T (p.Ser676Cys) c.2233A>T (p.Ser745Cys) n.478+21764T>A n.563+21764T>A c.2251A>T (p.Ser751Cys) | |
4 | g.47936468T>C | CA356822970 | CNGA1,NIPAL1 | c.2014A>G (p.Ser672Gly) c.2026A>G (p.Ser676Gly) c.2233A>G (p.Ser745Gly) n.478+21764T>C n.563+21764T>C c.2251A>G (p.Ser751Gly) | |
4 | g.47936468T>G | CA356822971 | CNGA1,NIPAL1 | c.2014A>C (p.Ser672Arg) c.2026A>C (p.Ser676Arg) c.2233A>C (p.Ser745Arg) n.478+21764T>G n.563+21764T>G c.2251A>C (p.Ser751Arg) | |
4 | g.47936469T>A | CA439248018 | CNGA1,NIPAL1 | c.2013A>T (p.Ser671=) c.2025A>T (p.Ser675=) c.2232A>T (p.Ser744=) n.478+21765T>A n.563+21765T>A c.2250A>T (p.Ser750=) | |
4 | g.47936469T>C | CA439248016 | CNGA1,NIPAL1 | c.2013A>G (p.Ser671=) c.2025A>G (p.Ser675=) c.2232A>G (p.Ser744=) n.478+21765T>C n.563+21765T>C c.2250A>G (p.Ser750=) | |
4 | g.47936469T>G | CA439248015 | CNGA1,NIPAL1 | c.2013A>C (p.Ser671=) c.2025A>C (p.Ser675=) c.2232A>C (p.Ser744=) n.478+21765T>G n.563+21765T>G c.2250A>C (p.Ser750=) | |
4 | g.47936470G>A | CA356822973 | CNGA1,NIPAL1 | c.2012C>T (p.Ser671Leu) c.2024C>T (p.Ser675Leu) c.2231C>T (p.Ser744Leu) n.478+21766G>A n.563+21766G>A c.2249C>T (p.Ser750Leu) | |
4 | g.47936470G>C | CA356822974 | CNGA1,NIPAL1 | c.2012C>G (p.Ser671Ter) c.2024C>G (p.Ser675Ter) c.2231C>G (p.Ser744Ter) n.478+21766G>C n.563+21766G>C c.2249C>G (p.Ser750Ter) | |
4 | g.47936470G>T | CA356822975 | CNGA1,NIPAL1 | c.2012C>A (p.Ser671Ter) c.2024C>A (p.Ser675Ter) c.2231C>A (p.Ser744Ter) n.478+21766G>T n.563+21766G>T c.2249C>A (p.Ser750Ter) | |
4 | g.47936471A>C | CA356822976 | CNGA1,NIPAL1 | c.2011T>G (p.Ser671Ala) c.2023T>G (p.Ser675Ala) c.2230T>G (p.Ser744Ala) n.478+21767A>C n.563+21767A>C c.2248T>G (p.Ser750Ala) | |
4 | g.47936471A>G | CA356822977 | CNGA1,NIPAL1 | c.2011T>C (p.Ser671Pro) c.2023T>C (p.Ser675Pro) c.2230T>C (p.Ser744Pro) n.478+21767A>G n.563+21767A>G c.2248T>C (p.Ser750Pro) | |
4 | g.47936471A>T | CA356822978 | CNGA1,NIPAL1 | c.2011T>A (p.Ser671Thr) c.2023T>A (p.Ser675Thr) c.2230T>A (p.Ser744Thr) n.478+21767A>T n.563+21767A>T c.2248T>A (p.Ser750Thr) | |
4 | g.47936472A>C | CA356822979 | CNGA1,NIPAL1 | c.2010T>G (p.Phe670Leu) c.2022T>G (p.Phe674Leu) c.2229T>G (p.Phe743Leu) n.478+21768A>C n.563+21768A>C c.2247T>G (p.Phe749Leu) | |
4 | g.47936472A>G | CA439248021 | CNGA1,NIPAL1 | c.2010T>C (p.Phe670=) c.2022T>C (p.Phe674=) c.2229T>C (p.Phe743=) n.478+21768A>G n.563+21768A>G c.2247T>C (p.Phe749=) | |
4 | g.47936472A>T | CA356822980 | CNGA1,NIPAL1 | c.2010T>A (p.Phe670Leu) c.2022T>A (p.Phe674Leu) c.2229T>A (p.Phe743Leu) n.478+21768A>T n.563+21768A>T c.2247T>A (p.Phe749Leu) | |
4 | g.47936473A>C | CA356822981 | CNGA1,NIPAL1 | c.2009T>G (p.Phe670Cys) c.2021T>G (p.Phe674Cys) c.2228T>G (p.Phe743Cys) n.478+21769A>C n.563+21769A>C c.2246T>G (p.Phe749Cys) | |
4 | g.47936473A>G | CA356822982 | CNGA1,NIPAL1 | c.2009T>C (p.Phe670Ser) c.2021T>C (p.Phe674Ser) c.2228T>C (p.Phe743Ser) n.478+21769A>G n.563+21769A>G c.2246T>C (p.Phe749Ser) | |
4 | g.47936473A>T | CA356822983 | CNGA1,NIPAL1 | c.2009T>A (p.Phe670Tyr) c.2021T>A (p.Phe674Tyr) c.2228T>A (p.Phe743Tyr) n.478+21769A>T n.563+21769A>T c.2246T>A (p.Phe749Tyr) | |
4 | g.47936474A= | CA1455551591 | CNGA1,NIPAL1 | c.2008T= (p.Phe670=) c.2020T= (p.Phe674=) c.2227T= (p.Phe743=) n.478+21770A= n.563+21770A= c.2245T= (p.Phe749=) | |
4 | g.47936474A>C | CA356822984 | CNGA1,NIPAL1 | c.2008T>G (p.Phe670Val) c.2020T>G (p.Phe674Val) c.2227T>G (p.Phe743Val) n.478+21770A>C n.563+21770A>C c.2245T>G (p.Phe749Val) | |
4 | g.47936474A>G | CA356822985 | CNGA1,NIPAL1 | c.2008T>C (p.Phe670Leu) c.2020T>C (p.Phe674Leu) c.2227T>C (p.Phe743Leu) n.478+21770A>G n.563+21770A>G c.2245T>C (p.Phe749Leu) | |
4 | g.47936474A>T | CA2910974 | CNGA1,NIPAL1 | c.2008T>A (p.Phe670Ile) c.2020T>A (p.Phe674Ile) c.2227T>A (p.Phe743Ile) n.478+21770A>T n.563+21770A>T c.2245T>A (p.Phe749Ile) | dbSNP ExAC gnomAD v2 |
4 | g.47936475T>A | CA356822986 | CNGA1,NIPAL1 | c.2007A>T (p.Glu669Asp) c.2019A>T (p.Glu673Asp) c.2226A>T (p.Glu742Asp) n.478+21771T>A n.563+21771T>A c.2244A>T (p.Glu748Asp) | |
4 | g.47936475T>C | CA439248026 | CNGA1,NIPAL1 | c.2007A>G (p.Glu669=) c.2019A>G (p.Glu673=) c.2226A>G (p.Glu742=) n.478+21771T>C n.563+21771T>C c.2244A>G (p.Glu748=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936475T>G | CA356822987 | CNGA1,NIPAL1 | c.2007A>C (p.Glu669Asp) c.2019A>C (p.Glu673Asp) c.2226A>C (p.Glu742Asp) n.478+21771T>G n.563+21771T>G c.2244A>C (p.Glu748Asp) | |
4 | g.47936475T= | CA1455551592 | CNGA1,NIPAL1 | c.2007A= (p.Glu669=) c.2019A= (p.Glu673=) c.2226A= (p.Glu742=) n.478+21771T= n.563+21771T= c.2244A= (p.Glu748=) | |
4 | g.47936476T>A | CA356822988 | CNGA1,NIPAL1 | c.2006A>T (p.Glu669Val) c.2018A>T (p.Glu673Val) c.2225A>T (p.Glu742Val) n.478+21772T>A n.563+21772T>A c.2243A>T (p.Glu748Val) | |
4 | g.47936476T>C | CA356822989 | CNGA1,NIPAL1 | c.2006A>G (p.Glu669Gly) c.2018A>G (p.Glu673Gly) c.2225A>G (p.Glu742Gly) n.478+21772T>C n.563+21772T>C c.2243A>G (p.Glu748Gly) | |
4 | g.47936476T>G | CA356822990 | CNGA1,NIPAL1 | c.2006A>C (p.Glu669Ala) c.2018A>C (p.Glu673Ala) c.2225A>C (p.Glu742Ala) n.478+21772T>G n.563+21772T>G c.2243A>C (p.Glu748Ala) | gnomAD v4 |
4 | g.47936477C>A | CA356822991 | CNGA1,NIPAL1 | c.2005G>T (p.Glu669Ter) c.2017G>T (p.Glu673Ter) c.2224G>T (p.Glu742Ter) n.478+21773C>A n.563+21773C>A c.2242G>T (p.Glu748Ter) | |
4 | g.47936477C>G | CA356822992 | CNGA1,NIPAL1 | c.2005G>C (p.Glu669Gln) c.2017G>C (p.Glu673Gln) c.2224G>C (p.Glu742Gln) n.478+21773C>G n.563+21773C>G c.2242G>C (p.Glu748Gln) | gnomAD v4 COSMIC |
4 | g.47936477C>T | CA356822993 | CNGA1,NIPAL1 | c.2005G>A (p.Glu669Lys) c.2017G>A (p.Glu673Lys) c.2224G>A (p.Glu742Lys) n.478+21773C>T n.563+21773C>T c.2242G>A (p.Glu748Lys) | |
4 | g.47936478T>A | CA439248028 | CNGA1,NIPAL1 | c.2004A>T (p.Thr668=) c.2016A>T (p.Thr672=) c.2223A>T (p.Thr741=) n.478+21774T>A n.563+21774T>A c.2241A>T (p.Thr747=) | |
4 | g.47936478T>C | CA439248029 | CNGA1,NIPAL1 | c.2004A>G (p.Thr668=) c.2016A>G (p.Thr672=) c.2223A>G (p.Thr741=) n.478+21774T>C n.563+21774T>C c.2241A>G (p.Thr747=) | |
4 | g.47936478T>G | CA439248030 | CNGA1,NIPAL1 | c.2004A>C (p.Thr668=) c.2016A>C (p.Thr672=) c.2223A>C (p.Thr741=) n.478+21774T>G n.563+21774T>G c.2241A>C (p.Thr747=) | |
4 | g.47936479G>A | CA356822994 | CNGA1,NIPAL1 | c.2003C>T (p.Thr668Ile) c.2015C>T (p.Thr672Ile) c.2222C>T (p.Thr741Ile) n.478+21775G>A n.563+21775G>A c.2240C>T (p.Thr747Ile) | ClinVar dbSNP |
4 | g.47936479G>C | CA2910975 | CNGA1,NIPAL1 | c.2003C>G (p.Thr668Arg) c.2015C>G (p.Thr672Arg) c.2222C>G (p.Thr741Arg) n.478+21775G>C n.563+21775G>C c.2240C>G (p.Thr747Arg) | dbSNP ExAC gnomAD v2 |
4 | g.47936479G= | CA1455551593 | CNGA1,NIPAL1 | c.2003C= (p.Thr668=) c.2015C= (p.Thr672=) c.2222C= (p.Thr741=) n.478+21775G= n.563+21775G= c.2240C= (p.Thr747=) | |
4 | g.47936479G>T | CA356822995 | CNGA1,NIPAL1 | c.2003C>A (p.Thr668Lys) c.2015C>A (p.Thr672Lys) c.2222C>A (p.Thr741Lys) n.478+21775G>T n.563+21775G>T c.2240C>A (p.Thr747Lys) | |
4 | g.47936480T>A | CA356822998 | CNGA1,NIPAL1 | c.2002A>T (p.Thr668Ser) c.2014A>T (p.Thr672Ser) c.2221A>T (p.Thr741Ser) n.478+21776T>A n.563+21776T>A c.2239A>T (p.Thr747Ser) | |
4 | g.47936480T>C | CA356822997 | CNGA1,NIPAL1 | c.2002A>G (p.Thr668Ala) c.2014A>G (p.Thr672Ala) c.2221A>G (p.Thr741Ala) n.478+21776T>C n.563+21776T>C c.2239A>G (p.Thr747Ala) | |
4 | g.47936480T>G | CA356822996 | CNGA1,NIPAL1 | c.2002A>C (p.Thr668Pro) c.2014A>C (p.Thr672Pro) c.2221A>C (p.Thr741Pro) n.478+21776T>G n.563+21776T>G c.2239A>C (p.Thr747Pro) | |
4 | g.47936480dup | CA2670552338 | CNGA1,NIPAL1 | c.2002dup (p.Thr668AsnfsTer7) c.2014dup (p.Thr672AsnfsTer7) c.2221dup (p.Thr741AsnfsTer7) n.478+21776dup n.563+21776dup c.2239dup (p.Thr747AsnfsTer7) | gnomAD v4 |
4 | g.47936481G>A | CA439248033 | CNGA1,NIPAL1 | c.2001C>T (p.Asp667=) c.2013C>T (p.Asp671=) c.2220C>T (p.Asp740=) n.478+21777G>A n.563+21777G>A c.2238C>T (p.Asp746=) | |
4 | g.47936481G>C | CA356823000 | CNGA1,NIPAL1 | c.2001C>G (p.Asp667Glu) c.2013C>G (p.Asp671Glu) c.2220C>G (p.Asp740Glu) n.478+21777G>C n.563+21777G>C c.2238C>G (p.Asp746Glu) | |
4 | g.47936481G>T | CA356822999 | CNGA1,NIPAL1 | c.2001C>A (p.Asp667Glu) c.2013C>A (p.Asp671Glu) c.2220C>A (p.Asp740Glu) n.478+21777G>T n.563+21777G>T c.2238C>A (p.Asp746Glu) | |
4 | g.47936482T>A | CA356823001 | CNGA1,NIPAL1 | c.2000A>T (p.Asp667Val) c.2012A>T (p.Asp671Val) c.2219A>T (p.Asp740Val) n.478+21778T>A n.563+21778T>A c.2237A>T (p.Asp746Val) | |
4 | g.47936482T>C | CA356823002 | CNGA1,NIPAL1 | c.2000A>G (p.Asp667Gly) c.2012A>G (p.Asp671Gly) c.2219A>G (p.Asp740Gly) n.478+21778T>C n.563+21778T>C c.2237A>G (p.Asp746Gly) | |
4 | g.47936482T>G | CA356823003 | CNGA1,NIPAL1 | c.2000A>C (p.Asp667Ala) c.2012A>C (p.Asp671Ala) c.2219A>C (p.Asp740Ala) n.478+21778T>G n.563+21778T>G c.2237A>C (p.Asp746Ala) | |
4 | g.47936483C>A | CA356823004 | CNGA1,NIPAL1 | c.1999G>T (p.Asp667Tyr) c.2011G>T (p.Asp671Tyr) c.2218G>T (p.Asp740Tyr) n.478+21779C>A n.563+21779C>A c.2236G>T (p.Asp746Tyr) | |
4 | g.47936483C>G | CA356823005 | CNGA1,NIPAL1 | c.1999G>C (p.Asp667His) c.2011G>C (p.Asp671His) c.2218G>C (p.Asp740His) n.478+21779C>G n.563+21779C>G c.2236G>C (p.Asp746His) | |
4 | g.47936483C>T | CA356823006 | CNGA1,NIPAL1 | c.1999G>A (p.Asp667Asn) c.2011G>A (p.Asp671Asn) c.2218G>A (p.Asp740Asn) n.478+21779C>T n.563+21779C>T c.2236G>A (p.Asp746Asn) | gnomAD v4 |
4 | g.47936484A>C | CA356823007 | CNGA1,NIPAL1 | c.1998T>G (p.Ile666Met) c.2010T>G (p.Ile670Met) c.2217T>G (p.Ile739Met) n.478+21780A>C n.563+21780A>C c.2235T>G (p.Ile745Met) | |
4 | g.47936484A>G | CA439248035 | CNGA1,NIPAL1 | c.1998T>C (p.Ile666=) c.2010T>C (p.Ile670=) c.2217T>C (p.Ile739=) n.478+21780A>G n.563+21780A>G c.2235T>C (p.Ile745=) | |
4 | g.47936484A>T | CA439248036 | CNGA1,NIPAL1 | c.1998T>A (p.Ile666=) c.2010T>A (p.Ile670=) c.2217T>A (p.Ile739=) n.478+21780A>T n.563+21780A>T c.2235T>A (p.Ile745=) | |
4 | g.47936485A= | CA1455551594 | CNGA1,NIPAL1 | c.1997T= (p.Ile666=) c.2009T= (p.Ile670=) c.2216T= (p.Ile739=) n.478+21781A= n.563+21781A= c.2234T= (p.Ile745=) | |
4 | g.47936485A>C | CA356823008 | CNGA1,NIPAL1 | c.1997T>G (p.Ile666Ser) c.2009T>G (p.Ile670Ser) c.2216T>G (p.Ile739Ser) n.478+21781A>C n.563+21781A>C c.2234T>G (p.Ile745Ser) | |
4 | g.47936485A>G | CA356823009 | CNGA1,NIPAL1 | c.1997T>C (p.Ile666Thr) c.2009T>C (p.Ile670Thr) c.2216T>C (p.Ile739Thr) n.478+21781A>G n.563+21781A>G c.2234T>C (p.Ile745Thr) | dbSNP |
4 | g.47936485A>T | CA356823010 | CNGA1,NIPAL1 | c.1997T>A (p.Ile666Asn) c.2009T>A (p.Ile670Asn) c.2216T>A (p.Ile739Asn) n.478+21781A>T n.563+21781A>T c.2234T>A (p.Ile745Asn) | |
4 | g.47936486T>A | CA356823011 | CNGA1,NIPAL1 | c.1996A>T (p.Ile666Phe) c.2008A>T (p.Ile670Phe) c.2215A>T (p.Ile739Phe) n.478+21782T>A n.563+21782T>A c.2233A>T (p.Ile745Phe) | |
4 | g.47936486T>C | CA356823012 | CNGA1,NIPAL1 | c.1996A>G (p.Ile666Val) c.2008A>G (p.Ile670Val) c.2215A>G (p.Ile739Val) n.478+21782T>C n.563+21782T>C c.2233A>G (p.Ile745Val) | gnomAD v4 |
4 | g.47936486T>G | CA356823013 | CNGA1,NIPAL1 | c.1996A>C (p.Ile666Leu) c.2008A>C (p.Ile670Leu) c.2215A>C (p.Ile739Leu) n.478+21782T>G n.563+21782T>G c.2233A>C (p.Ile745Leu) | |
4 | g.47936487A>C | CA439248038 | CNGA1,NIPAL1 | c.1995T>G (p.Leu665=) c.2007T>G (p.Leu669=) c.2214T>G (p.Leu738=) n.478+21783A>C n.563+21783A>C c.2232T>G (p.Leu744=) | |
4 | g.47936487A>G | CA439248039 | CNGA1,NIPAL1 | c.1995T>C (p.Leu665=) c.2007T>C (p.Leu669=) c.2214T>C (p.Leu738=) n.478+21783A>G n.563+21783A>G c.2232T>C (p.Leu744=) | |
4 | g.47936487A>T | CA439248040 | CNGA1,NIPAL1 | c.1995T>A (p.Leu665=) c.2007T>A (p.Leu669=) c.2214T>A (p.Leu738=) n.478+21783A>T n.563+21783A>T c.2232T>A (p.Leu744=) | |
4 | g.47936488A>C | CA356823014 | CNGA1,NIPAL1 | c.1994T>G (p.Leu665Arg) c.2006T>G (p.Leu669Arg) c.2213T>G (p.Leu738Arg) n.478+21784A>C n.563+21784A>C c.2231T>G (p.Leu744Arg) | |
4 | g.47936488A>G | CA356823016 | CNGA1,NIPAL1 | c.1994T>C (p.Leu665Pro) c.2006T>C (p.Leu669Pro) c.2213T>C (p.Leu738Pro) n.478+21784A>G n.563+21784A>G c.2231T>C (p.Leu744Pro) | ClinVar |
4 | g.47936488A>T | CA356823015 | CNGA1,NIPAL1 | c.1994T>A (p.Leu665His) c.2006T>A (p.Leu669His) c.2213T>A (p.Leu738His) n.478+21784A>T n.563+21784A>T c.2231T>A (p.Leu744His) | |
4 | g.47936489G>A | CA356823017 | CNGA1,NIPAL1 | c.1993C>T (p.Leu665Phe) c.2005C>T (p.Leu669Phe) c.2212C>T (p.Leu738Phe) n.478+21785G>A n.563+21785G>A c.2230C>T (p.Leu744Phe) | |
4 | g.47936489G>C | CA356823018 | CNGA1,NIPAL1 | c.1993C>G (p.Leu665Val) c.2005C>G (p.Leu669Val) c.2212C>G (p.Leu738Val) n.478+21785G>C n.563+21785G>C c.2230C>G (p.Leu744Val) | |
4 | g.47936489G>T | CA356823019 | CNGA1,NIPAL1 | c.1993C>A (p.Leu665Ile) c.2005C>A (p.Leu669Ile) c.2212C>A (p.Leu738Ile) n.478+21785G>T n.563+21785G>T c.2230C>A (p.Leu744Ile) | |
4 | g.47936490C>A | CA439248044 | CNGA1,NIPAL1 | c.1992G>T (p.Pro664=) c.2004G>T (p.Pro668=) c.2211G>T (p.Pro737=) n.478+21786C>A n.563+21786C>A c.2229G>T (p.Pro743=) | |
4 | g.47936490C= | CA1455551595 | CNGA1,NIPAL1 | c.1992G= (p.Pro664=) c.2004G= (p.Pro668=) c.2211G= (p.Pro737=) n.478+21786C= n.563+21786C= c.2229G= (p.Pro743=) | |
4 | g.47936490C>G | CA439248043 | CNGA1,NIPAL1 | c.1992G>C (p.Pro664=) c.2004G>C (p.Pro668=) c.2211G>C (p.Pro737=) n.478+21786C>G n.563+21786C>G c.2229G>C (p.Pro743=) | |
4 | g.47936490C>T | CA2910976 | CNGA1,NIPAL1 | c.1992G>A (p.Pro664=) c.2004G>A (p.Pro668=) c.2211G>A (p.Pro737=) n.478+21786C>T n.563+21786C>T c.2229G>A (p.Pro743=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936491G>A | CA2910977 | CNGA1,NIPAL1 | c.1991C>T (p.Pro664Leu) c.2003C>T (p.Pro668Leu) c.2210C>T (p.Pro737Leu) n.478+21787G>A n.563+21787G>A c.2228C>T (p.Pro743Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936491G>C | CA356823020 | CNGA1,NIPAL1 | c.1991C>G (p.Pro664Arg) c.2003C>G (p.Pro668Arg) c.2210C>G (p.Pro737Arg) n.478+21787G>C n.563+21787G>C c.2228C>G (p.Pro743Arg) | |
4 | g.47936491G= | CA1455551596 | CNGA1,NIPAL1 | c.1991C= (p.Pro664=) c.2003C= (p.Pro668=) c.2210C= (p.Pro737=) n.478+21787G= n.563+21787G= c.2228C= (p.Pro743=) | |
4 | g.47936491G>T | CA2910978 | CNGA1,NIPAL1 | c.1991C>A (p.Pro664Gln) c.2003C>A (p.Pro668Gln) c.2210C>A (p.Pro737Gln) n.478+21787G>T n.563+21787G>T c.2228C>A (p.Pro743Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936492G>A | CA356823021 | CNGA1,NIPAL1 | c.1990C>T (p.Pro664Ser) c.2002C>T (p.Pro668Ser) c.2209C>T (p.Pro737Ser) n.478+21788G>A n.563+21788G>A c.2227C>T (p.Pro743Ser) | |
4 | g.47936492G>C | CA356823022 | CNGA1,NIPAL1 | c.1990C>G (p.Pro664Ala) c.2002C>G (p.Pro668Ala) c.2209C>G (p.Pro737Ala) n.478+21788G>C n.563+21788G>C c.2227C>G (p.Pro743Ala) | |
4 | g.47936492G= | CA1455551597 | CNGA1,NIPAL1 | c.1990C= (p.Pro664=) c.2002C= (p.Pro668=) c.2209C= (p.Pro737=) n.478+21788G= n.563+21788G= c.2227C= (p.Pro743=) | |
4 | g.47936492G>T | CA2910979 | CNGA1,NIPAL1 | c.1990C>A (p.Pro664Thr) c.2002C>A (p.Pro668Thr) c.2209C>A (p.Pro737Thr) n.478+21788G>T n.563+21788G>T c.2227C>A (p.Pro743Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936493T>A | CA356823023 | CNGA1,NIPAL1 | c.1989A>T (p.Lys663Asn) c.2001A>T (p.Lys667Asn) c.2208A>T (p.Lys736Asn) n.478+21789T>A n.563+21789T>A c.2226A>T (p.Lys742Asn) | |
4 | g.47936493T>C | CA439248049 | CNGA1,NIPAL1 | c.1989A>G (p.Lys663=) c.2001A>G (p.Lys667=) c.2208A>G (p.Lys736=) n.478+21789T>C n.563+21789T>C c.2226A>G (p.Lys742=) | |
4 | g.47936493T>G | CA356823024 | CNGA1,NIPAL1 | c.1989A>C (p.Lys663Asn) c.2001A>C (p.Lys667Asn) c.2208A>C (p.Lys736Asn) n.478+21789T>G n.563+21789T>G c.2226A>C (p.Lys742Asn) | |
4 | g.47936494T>A | CA356823026 | CNGA1,NIPAL1 | c.1988A>T (p.Lys663Ile) c.2000A>T (p.Lys667Ile) c.2207A>T (p.Lys736Ile) n.478+21790T>A n.563+21790T>A c.2225A>T (p.Lys742Ile) | |
4 | g.47936494T>C | CA356823027 | CNGA1,NIPAL1 | c.1988A>G (p.Lys663Arg) c.2000A>G (p.Lys667Arg) c.2207A>G (p.Lys736Arg) n.478+21790T>C n.563+21790T>C c.2225A>G (p.Lys742Arg) | |
4 | g.47936494T>G | CA356823025 | CNGA1,NIPAL1 | c.1988A>C (p.Lys663Thr) c.2000A>C (p.Lys667Thr) c.2207A>C (p.Lys736Thr) n.478+21790T>G n.563+21790T>G c.2225A>C (p.Lys742Thr) | |
4 | g.47936495T>A | CA356823028 | CNGA1,NIPAL1 | c.1987A>T (p.Lys663Ter) c.1999A>T (p.Lys667Ter) c.2206A>T (p.Lys736Ter) n.478+21791T>A n.563+21791T>A c.2224A>T (p.Lys742Ter) | |
4 | g.47936495T>C | CA356823030 | CNGA1,NIPAL1 | c.1987A>G (p.Lys663Glu) c.1999A>G (p.Lys667Glu) c.2206A>G (p.Lys736Glu) n.478+21791T>C n.563+21791T>C c.2224A>G (p.Lys742Glu) | |
4 | g.47936495T>G | CA356823029 | CNGA1,NIPAL1 | c.1987A>C (p.Lys663Gln) c.1999A>C (p.Lys667Gln) c.2206A>C (p.Lys736Gln) n.478+21791T>G n.563+21791T>G c.2224A>C (p.Lys742Gln) | gnomAD v4 |
4 | g.47936496C>A | CA439248056 | CNGA1,NIPAL1 | c.1986G>T (p.Leu662=) c.1998G>T (p.Leu666=) c.2205G>T (p.Leu735=) n.478+21792C>A n.563+21792C>A c.2223G>T (p.Leu741=) | dbSNP |
4 | g.47936496C= | CA1455551598 | CNGA1,NIPAL1 | c.1986G= (p.Leu662=) c.1998G= (p.Leu666=) c.2205G= (p.Leu735=) n.478+21792C= n.563+21792C= c.2223G= (p.Leu741=) | |
4 | g.47936496C>G | CA439248057 | CNGA1,NIPAL1 | c.1986G>C (p.Leu662=) c.1998G>C (p.Leu666=) c.2205G>C (p.Leu735=) n.478+21792C>G n.563+21792C>G c.2223G>C (p.Leu741=) | |
4 | g.47936496C>T | CA439248058 | CNGA1,NIPAL1 | c.1986G>A (p.Leu662=) c.1998G>A (p.Leu666=) c.2205G>A (p.Leu735=) n.478+21792C>T n.563+21792C>T c.2223G>A (p.Leu741=) | |
4 | g.47936497A= | CA1455551599 | CNGA1,NIPAL1 | c.1985T= (p.Leu662=) c.1997T= (p.Leu666=) c.2204T= (p.Leu735=) n.478+21793A= n.563+21793A= c.2222T= (p.Leu741=) | |
4 | g.47936497A>C | CA356823031 | CNGA1,NIPAL1 | c.1985T>G (p.Leu662Arg) c.1997T>G (p.Leu666Arg) c.2204T>G (p.Leu735Arg) n.478+21793A>C n.563+21793A>C c.2222T>G (p.Leu741Arg) | |
4 | g.47936497A>G | CA2910980 | CNGA1,NIPAL1 | c.1985T>C (p.Leu662Pro) c.1997T>C (p.Leu666Pro) c.2204T>C (p.Leu735Pro) n.478+21793A>G n.563+21793A>G c.2222T>C (p.Leu741Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936497A>T | CA356823032 | CNGA1,NIPAL1 | c.1985T>A (p.Leu662Gln) c.1997T>A (p.Leu666Gln) c.2204T>A (p.Leu735Gln) n.478+21793A>T n.563+21793A>T c.2222T>A (p.Leu741Gln) | |
4 | g.47936498G>A | CA439248065 | CNGA1,NIPAL1 | c.1984C>T (p.Leu662=) c.1996C>T (p.Leu666=) c.2203C>T (p.Leu735=) n.478+21794G>A n.563+21794G>A c.2221C>T (p.Leu741=) | ClinVar dbSNP |
4 | g.47936498G>C | CA356823033 | CNGA1,NIPAL1 | c.1984C>G (p.Leu662Val) c.1996C>G (p.Leu666Val) c.2203C>G (p.Leu735Val) n.478+21794G>C n.563+21794G>C c.2221C>G (p.Leu741Val) | |
4 | g.47936498G>T | CA356823034 | CNGA1,NIPAL1 | c.1984C>A (p.Leu662Met) c.1996C>A (p.Leu666Met) c.2203C>A (p.Leu735Met) n.478+21794G>T n.563+21794G>T c.2221C>A (p.Leu741Met) | |
4 | g.47936498_47936499delinsGA | CA1455551600 | CNGA1,NIPAL1 | c.1983_1984delinsTC (p.Phe661=) c.1995_1996delinsTC (p.Phe665=) c.2202_2203delinsTC (p.Phe734=) n.478+21794_478+21795delinsGA n.563+21794_563+21795delinsGA c.2220_2221delinsTC (p.Phe740=) | |
4 | g.47936499A>C | CA356823035 | CNGA1,NIPAL1 | c.1983T>G (p.Phe661Leu) c.1995T>G (p.Phe665Leu) c.2202T>G (p.Phe734Leu) n.478+21795A>C n.563+21795A>C c.2220T>G (p.Phe740Leu) | |
4 | g.47936499A>G | CA439248066 | CNGA1,NIPAL1 | c.1983T>C (p.Phe661=) c.1995T>C (p.Phe665=) c.2202T>C (p.Phe734=) n.478+21795A>G n.563+21795A>G c.2220T>C (p.Phe740=) | |
4 | g.47936499A>T | CA356823036 | CNGA1,NIPAL1 | c.1983T>A (p.Phe661Leu) c.1995T>A (p.Phe665Leu) c.2202T>A (p.Phe734Leu) n.478+21795A>T n.563+21795A>T c.2220T>A (p.Phe740Leu) | |
4 | g.47936501del | CA551650454 | CNGA1,NIPAL1 | c.1983del (p.Leu662Ter) c.1995del (p.Leu666Ter) c.2202del (p.Leu735Ter) n.478+21797del n.563+21797del c.2220del (p.Leu741Ter) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936500A= | CA1455551601 | CNGA1,NIPAL1 | c.1982T= (p.Phe661=) c.1994T= (p.Phe665=) c.2201T= (p.Phe734=) n.478+21796A= n.563+21796A= c.2219T= (p.Phe740=) | |
4 | g.47936500A>C | CA356823037 | CNGA1,NIPAL1 | c.1982T>G (p.Phe661Cys) c.1994T>G (p.Phe665Cys) c.2201T>G (p.Phe734Cys) n.478+21796A>C n.563+21796A>C c.2219T>G (p.Phe740Cys) | |
4 | g.47936500A>G | CA2910981 | CNGA1,NIPAL1 | c.1982T>C (p.Phe661Ser) c.1994T>C (p.Phe665Ser) c.2201T>C (p.Phe734Ser) n.478+21796A>G n.563+21796A>G c.2219T>C (p.Phe740Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936500A>T | CA356823038 | CNGA1,NIPAL1 | c.1982T>A (p.Phe661Tyr) c.1994T>A (p.Phe665Tyr) c.2201T>A (p.Phe734Tyr) n.478+21796A>T n.563+21796A>T c.2219T>A (p.Phe740Tyr) | |
4 | g.47936501A= | CA1455551602 | CNGA1,NIPAL1 | c.1981T= (p.Phe661=) c.1993T= (p.Phe665=) c.2200T= (p.Phe734=) n.478+21797A= n.563+21797A= c.2218T= (p.Phe740=) | |
4 | g.47936501A>C | CA356823039 | CNGA1,NIPAL1 | c.1981T>G (p.Phe661Val) c.1993T>G (p.Phe665Val) c.2200T>G (p.Phe734Val) n.478+21797A>C n.563+21797A>C c.2218T>G (p.Phe740Val) | |
4 | g.47936501A>G | CA356823040 | CNGA1,NIPAL1 | c.1981T>C (p.Phe661Leu) c.1993T>C (p.Phe665Leu) c.2200T>C (p.Phe734Leu) n.478+21797A>G n.563+21797A>G c.2218T>C (p.Phe740Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936501A>T | CA356823041 | CNGA1,NIPAL1 | c.1981T>A (p.Phe661Ile) c.1993T>A (p.Phe665Ile) c.2200T>A (p.Phe734Ile) n.478+21797A>T n.563+21797A>T c.2218T>A (p.Phe740Ile) | |
4 | g.47936502T>A | CA356823042 | CNGA1,NIPAL1 | c.1980A>T (p.Lys660Asn) c.1992A>T (p.Lys664Asn) c.2199A>T (p.Lys733Asn) n.478+21798T>A n.563+21798T>A c.2217A>T (p.Lys739Asn) | |
4 | g.47936502T>C | CA439248073 | CNGA1,NIPAL1 | c.1980A>G (p.Lys660=) c.1992A>G (p.Lys664=) c.2199A>G (p.Lys733=) n.478+21798T>C n.563+21798T>C c.2217A>G (p.Lys739=) | dbSNP |
4 | g.47936502T>G | CA356823043 | CNGA1,NIPAL1 | c.1980A>C (p.Lys660Asn) c.1992A>C (p.Lys664Asn) c.2199A>C (p.Lys733Asn) n.478+21798T>G n.563+21798T>G c.2217A>C (p.Lys739Asn) | |
4 | g.47936503T>A | CA356823044 | CNGA1,NIPAL1 | c.1979A>T (p.Lys660Ile) c.1991A>T (p.Lys664Ile) c.2198A>T (p.Lys733Ile) n.478+21799T>A n.563+21799T>A c.2216A>T (p.Lys739Ile) | |
4 | g.47936503T>C | CA356823045 | CNGA1,NIPAL1 | c.1979A>G (p.Lys660Arg) c.1991A>G (p.Lys664Arg) c.2198A>G (p.Lys733Arg) n.478+21799T>C n.563+21799T>C c.2216A>G (p.Lys739Arg) | gnomAD v4 |
4 | g.47936503T>G | CA356823046 | CNGA1,NIPAL1 | c.1979A>C (p.Lys660Thr) c.1991A>C (p.Lys664Thr) c.2198A>C (p.Lys733Thr) n.478+21799T>G n.563+21799T>G c.2216A>C (p.Lys739Thr) | dbSNP COSMIC |
4 | g.47936503T= | CA1455551603 | CNGA1,NIPAL1 | c.1979A= (p.Lys660=) c.1991A= (p.Lys664=) c.2198A= (p.Lys733=) n.478+21799T= n.563+21799T= c.2216A= (p.Lys739=) | |
4 | g.47936504T>A | CA356823047 | CNGA1,NIPAL1 | c.1978A>T (p.Lys660Ter) c.1990A>T (p.Lys664Ter) c.2197A>T (p.Lys733Ter) n.478+21800T>A n.563+21800T>A c.2215A>T (p.Lys739Ter) | |
4 | g.47936504T>C | CA356823048 | CNGA1,NIPAL1 | c.1978A>G (p.Lys660Glu) c.1990A>G (p.Lys664Glu) c.2197A>G (p.Lys733Glu) n.478+21800T>C n.563+21800T>C c.2215A>G (p.Lys739Glu) | |
4 | g.47936504T>G | CA356823049 | CNGA1,NIPAL1 | c.1978A>C (p.Lys660Gln) c.1990A>C (p.Lys664Gln) c.2197A>C (p.Lys733Gln) n.478+21800T>G n.563+21800T>G c.2215A>C (p.Lys739Gln) | |
4 | g.47936505C>A | CA356823050 | CNGA1,NIPAL1 | c.1977G>T (p.Glu659Asp) c.1989G>T (p.Glu663Asp) c.2196G>T (p.Glu732Asp) n.478+21801C>A n.563+21801C>A c.2214G>T (p.Glu738Asp) | |
4 | g.47936505C>G | CA356823051 | CNGA1,NIPAL1 | c.1977G>C (p.Glu659Asp) c.1989G>C (p.Glu663Asp) c.2196G>C (p.Glu732Asp) n.478+21801C>G n.563+21801C>G c.2214G>C (p.Glu738Asp) | |
4 | g.47936505C>T | CA439248080 | CNGA1,NIPAL1 | c.1977G>A (p.Glu659=) c.1989G>A (p.Glu663=) c.2196G>A (p.Glu732=) n.478+21801C>T n.563+21801C>T c.2214G>A (p.Glu738=) | |
4 | g.47936506T>A | CA356823052 | CNGA1,NIPAL1 | c.1976A>T (p.Glu659Val) c.1988A>T (p.Glu663Val) c.2195A>T (p.Glu732Val) n.478+21802T>A n.563+21802T>A c.2213A>T (p.Glu738Val) | |
4 | g.47936506T>C | CA356823053 | CNGA1,NIPAL1 | c.1976A>G (p.Glu659Gly) c.1988A>G (p.Glu663Gly) c.2195A>G (p.Glu732Gly) n.478+21802T>C n.563+21802T>C c.2213A>G (p.Glu738Gly) | |
4 | g.47936506T>G | CA356823054 | CNGA1,NIPAL1 | c.1976A>C (p.Glu659Ala) c.1988A>C (p.Glu663Ala) c.2195A>C (p.Glu732Ala) n.478+21802T>G n.563+21802T>G c.2213A>C (p.Glu738Ala) | |
4 | g.47936507C>A | CA356823057 | CNGA1,NIPAL1 | c.1975G>T (p.Glu659Ter) c.1987G>T (p.Glu663Ter) c.2194G>T (p.Glu732Ter) n.478+21803C>A n.563+21803C>A c.2212G>T (p.Glu738Ter) | |
4 | g.47936507C>G | CA356823056 | CNGA1,NIPAL1 | c.1975G>C (p.Glu659Gln) c.1987G>C (p.Glu663Gln) c.2194G>C (p.Glu732Gln) n.478+21803C>G n.563+21803C>G c.2212G>C (p.Glu738Gln) | |
4 | g.47936507C>T | CA356823055 | CNGA1,NIPAL1 | c.1975G>A (p.Glu659Lys) c.1987G>A (p.Glu663Lys) c.2194G>A (p.Glu732Lys) n.478+21803C>T n.563+21803C>T c.2212G>A (p.Glu738Lys) | |
4 | g.47936508A= | CA1455551604 | CNGA1,NIPAL1 | c.1974T= (p.Val658=) c.1986T= (p.Val662=) c.2193T= (p.Val731=) n.478+21804A= n.563+21804A= c.2211T= (p.Val737=) | |
4 | g.47936508A>C | CA439248088 | CNGA1,NIPAL1 | c.1974T>G (p.Val658=) c.1986T>G (p.Val662=) c.2193T>G (p.Val731=) n.478+21804A>C n.563+21804A>C c.2211T>G (p.Val737=) | gnomAD v4 |
4 | g.47936508A>G | CA439248089 | CNGA1,NIPAL1 | c.1974T>C (p.Val658=) c.1986T>C (p.Val662=) c.2193T>C (p.Val731=) n.478+21804A>G n.563+21804A>G c.2211T>C (p.Val737=) | |
4 | g.47936508A>T | CA2910982 | CNGA1,NIPAL1 | c.1974T>A (p.Val658=) c.1986T>A (p.Val662=) c.2193T>A (p.Val731=) n.478+21804A>T n.563+21804A>T c.2211T>A (p.Val737=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936509A= | CA1455551605 | CNGA1,NIPAL1 | c.1973T= (p.Val658=) c.1985T= (p.Val662=) c.2192T= (p.Val731=) n.478+21805A= n.563+21805A= c.2210T= (p.Val737=) | |
4 | g.47936509A>C | CA356823058 | CNGA1,NIPAL1 | c.1973T>G (p.Val658Gly) c.1985T>G (p.Val662Gly) c.2192T>G (p.Val731Gly) n.478+21805A>C n.563+21805A>C c.2210T>G (p.Val737Gly) | |
4 | g.47936509A>G | CA2910983 | CNGA1,NIPAL1 | c.1973T>C (p.Val658Ala) c.1985T>C (p.Val662Ala) c.2192T>C (p.Val731Ala) n.478+21805A>G n.563+21805A>G c.2210T>C (p.Val737Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936509A>T | CA356823059 | CNGA1,NIPAL1 | c.1973T>A (p.Val658Asp) c.1985T>A (p.Val662Asp) c.2192T>A (p.Val731Asp) n.478+21805A>T n.563+21805A>T c.2210T>A (p.Val737Asp) |