Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.47936416C=CA1455551568CNGA1,NIPAL1c.*5G= (n.*5G=)
n.478+21712C=
n.563+21712C=
c.2285G= (n.2285G=)
4g.47936416C>TCA2910964CNGA1,NIPAL1c.*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
4g.47936417G>ACA2910965CNGA1,NIPAL1c.*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
4g.47936417G=CA1455551569CNGA1,NIPAL1c.*4C= (n.*4C=)
n.478+21713G=
n.563+21713G=
c.2284C= (n.2284C=)
4g.47936417G>TCA551650452CNGA1,NIPAL1c.*4C>A (n.*4C>A)
n.478+21713G>T
n.563+21713G>T
c.2284C>A (n.2284C>A)
 dbSNP gnomAD v2 gnomAD v4
4g.47936418G>CCA1455551571CNGA1,NIPAL1c.*3C>G (n.*3C>G)
n.478+21714G>C
n.563+21714G>C
c.2283C>G (n.2283C>G)
 dbSNP
4g.47936418G=CA1455551570CNGA1,NIPAL1c.*3C= (n.*3C=)
n.478+21714G=
n.563+21714G=
c.2283C= (n.2283C=)
4g.47936421C>ACA356822872CNGA1,NIPAL1c.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
4g.47936421C=CA1455551572CNGA1,NIPAL1c.2061G= (p.Ter687=)
c.2073G= (p.Ter691=)
c.2280G= (p.Ter760=)
n.478+21717C=
n.563+21717C=
c.2298G= (p.Ter766=)
4g.47936421C>GCA356822873CNGA1,NIPAL1c.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)
4g.47936421C>TCA439247943CNGA1,NIPAL1c.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=)
4g.47936422T>ACA356822874CNGA1,NIPAL1c.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)
4g.47936422T>CCA356822876CNGA1,NIPAL1c.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)
4g.47936422T>GCA356822875CNGA1,NIPAL1c.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)
4g.47936423A=CA1455551573CNGA1,NIPAL1c.2059T= (p.Ter687=)
c.2071T= (p.Ter691=)
c.2278T= (p.Ter760=)
n.478+21719A=
n.563+21719A=
c.2296T= (p.Ter766=)
4g.47936423A>CCA356822877CNGA1,NIPAL1c.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)
4g.47936423A>GCA356822878CNGA1,NIPAL1c.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
4g.47936423A>TCA356822879CNGA1,NIPAL1c.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)
4g.47936424T>ACA439247945CNGA1,NIPAL1c.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=)
4g.47936424T>CCA439247946CNGA1,NIPAL1c.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=)
4g.47936424T>GCA439247947CNGA1,NIPAL1c.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=)
4g.47936425G>ACA356822880CNGA1,NIPAL1c.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)
4g.47936425G>CCA356822881CNGA1,NIPAL1c.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)
4g.47936425G>TCA356822882CNGA1,NIPAL1c.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)
4g.47936426T>ACA356822883CNGA1,NIPAL1c.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)
4g.47936426T>CCA356822884CNGA1,NIPAL1c.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)
4g.47936426T>GCA356822885CNGA1,NIPAL1c.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)
4g.47936427A>CCA439247949CNGA1,NIPAL1c.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=)
4g.47936427A>GCA439247950CNGA1,NIPAL1c.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
4g.47936427A>TCA439247951CNGA1,NIPAL1c.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=)
4g.47936429_47936430delCA2761332292CNGA1,NIPAL1c.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)
4g.47936428G>ACA356822886CNGA1,NIPAL1c.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
4g.47936428G>CCA356822887CNGA1,NIPAL1c.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)
4g.47936428G=CA1455551574CNGA1,NIPAL1c.2054C= (p.Ser685=)
c.2066C= (p.Ser689=)
c.2273C= (p.Ser758=)
n.478+21724G=
n.563+21724G=
c.2291C= (p.Ser764=)
4g.47936428G>TCA356822888CNGA1,NIPAL1c.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)
4g.47936429A=CA1455551575CNGA1,NIPAL1c.2053T= (p.Ser685=)
c.2065T= (p.Ser689=)
c.2272T= (p.Ser758=)
n.478+21725A=
n.563+21725A=
c.2290T= (p.Ser764=)
4g.47936429A>CCA96687615CNGA1,NIPAL1c.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
4g.47936429A>GCA356822890CNGA1,NIPAL1c.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
4g.47936429A>TCA356822889CNGA1,NIPAL1c.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)
4g.47936430G>ACA439247955CNGA1,NIPAL1c.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=)
4g.47936430G>CCA356822891CNGA1,NIPAL1c.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)
4g.47936430G>TCA356822892CNGA1,NIPAL1c.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)
4g.47936431T>ACA356822893CNGA1,NIPAL1c.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
4g.47936431T>CCA356822894CNGA1,NIPAL1c.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)
4g.47936431T>GCA356822895CNGA1,NIPAL1c.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)
4g.47936432C>ACA356822896CNGA1,NIPAL1c.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)
4g.47936432C=CA1455551576CNGA1,NIPAL1c.2050G= (p.Asp684=)
c.2062G= (p.Asp688=)
c.2269G= (p.Asp757=)
n.478+21728C=
n.563+21728C=
c.2287G= (p.Asp763=)
4g.47936432C>GCA96687628CNGA1,NIPAL1c.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
4g.47936432C>TCA96687652CNGA1,NIPAL1c.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
4g.47936433G>ACA2910966CNGA1,NIPAL1c.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
4g.47936433G>CCA356822897CNGA1,NIPAL1c.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)
4g.47936433G=CA1455551577CNGA1,NIPAL1c.2049C= (p.Ile683=)
c.2061C= (p.Ile687=)
c.2268C= (p.Ile756=)
n.478+21729G=
n.563+21729G=
c.2286C= (p.Ile762=)
4g.47936433G>TCA2910967CNGA1,NIPAL1c.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
4g.47936434A>CCA356822898CNGA1,NIPAL1c.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)
4g.47936434A>GCA356822899CNGA1,NIPAL1c.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)
4g.47936434A>TCA356822900CNGA1,NIPAL1c.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)
4g.47936435T>ACA356822901CNGA1,NIPAL1c.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)
4g.47936435T>CCA356822903CNGA1,NIPAL1c.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
4g.47936435T>GCA356822902CNGA1,NIPAL1c.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
4g.47936436G>ACA2910968CNGA1,NIPAL1c.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
4g.47936436G>CCA439247957CNGA1,NIPAL1c.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
4g.47936436G=CA1455551578CNGA1,NIPAL1c.2046C= (p.Pro682=)
c.2058C= (p.Pro686=)
c.2265C= (p.Pro755=)
n.478+21732G=
n.563+21732G=
c.2283C= (p.Pro761=)
4g.47936436G>TCA439247959CNGA1,NIPAL1c.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=)
4g.47936437G>ACA356822904CNGA1,NIPAL1c.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)
4g.47936437G>CCA356822905CNGA1,NIPAL1c.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)
4g.47936437G>TCA356822906CNGA1,NIPAL1c.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)
4g.47936438G>ACA356822907CNGA1,NIPAL1c.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)
4g.47936438G>CCA356822908CNGA1,NIPAL1c.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)
4g.47936438G>TCA356822909CNGA1,NIPAL1c.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)
4g.47936439C>ACA439247966CNGA1,NIPAL1c.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=)
4g.47936439C>GCA439247968CNGA1,NIPAL1c.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=)
4g.47936439C>TCA439247970CNGA1,NIPAL1c.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=)
4g.47936440C>ACA356822910CNGA1,NIPAL1c.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)
4g.47936440C=CA1455551579CNGA1,NIPAL1c.2042G= (p.Gly681=)
c.2054G= (p.Gly685=)
c.2261G= (p.Gly754=)
n.478+21736C=
n.563+21736C=
c.2279G= (p.Gly760=)
4g.47936440C>GCA356822911CNGA1,NIPAL1c.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
4g.47936440C>TCA356822912CNGA1,NIPAL1c.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)
4g.47936441C>ACA356822913CNGA1,NIPAL1c.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)
4g.47936441C>GCA356822915CNGA1,NIPAL1c.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)
4g.47936441C>TCA356822914CNGA1,NIPAL1c.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)
4g.47936442A>CCA356822916CNGA1,NIPAL1c.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)
4g.47936442A>GCA439247974CNGA1,NIPAL1c.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=)
4g.47936442A>TCA356822917CNGA1,NIPAL1c.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)
4g.47936443C>ACA356822918CNGA1,NIPAL1c.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)
4g.47936443C>GCA356822919CNGA1,NIPAL1c.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)
4g.47936443C>TCA356822920CNGA1,NIPAL1c.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)
4g.47936444T>ACA356822921CNGA1,NIPAL1c.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)
4g.47936444T>CCA356822922CNGA1,NIPAL1c.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
4g.47936444T>GCA356822923CNGA1,NIPAL1c.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)
4g.47936444T=CA1455551580CNGA1,NIPAL1c.2038A= (p.Ser680=)
c.2050A= (p.Ser684=)
c.2257A= (p.Ser753=)
n.478+21740T=
n.563+21740T=
c.2275A= (p.Ser759=)
4g.47936445T>ACA356822924CNGA1,NIPAL1c.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)
4g.47936445T>CCA439247976CNGA1,NIPAL1c.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=)
4g.47936445T>GCA356822925CNGA1,NIPAL1c.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)
4g.47936446T>ACA356822926CNGA1,NIPAL1c.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)
4g.47936446T>CCA356822927CNGA1,NIPAL1c.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
4g.47936446T>GCA356822928CNGA1,NIPAL1c.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)
4g.47936446T=CA1455551581CNGA1,NIPAL1c.2036A= (p.Glu679=)
c.2048A= (p.Glu683=)
c.2255A= (p.Glu752=)
n.478+21742T=
n.563+21742T=
c.2273A= (p.Glu758=)
4g.47936447C>ACA356822931CNGA1,NIPAL1c.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)
4g.47936447C>GCA356822930CNGA1,NIPAL1c.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)
4g.47936447C>TCA356822929CNGA1,NIPAL1c.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)
4g.47936448C>ACA439247981CNGA1,NIPAL1c.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=)
4g.47936448C=CA1455551582CNGA1,NIPAL1c.2034G= (p.Ala678=)
c.2046G= (p.Ala682=)
c.2253G= (p.Ala751=)
n.478+21744C=
n.563+21744C=
c.2271G= (p.Ala757=)
4g.47936448C>GCA439247982CNGA1,NIPAL1c.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=)
4g.47936448C>TCA2910969CNGA1,NIPAL1c.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
4g.47936449G>ACA2910970CNGA1,NIPAL1c.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
4g.47936449G>CCA356822932CNGA1,NIPAL1c.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
4g.47936449G=CA1455551583CNGA1,NIPAL1c.2033C= (p.Ala678=)
c.2045C= (p.Ala682=)
c.2252C= (p.Ala751=)
n.478+21745G=
n.563+21745G=
c.2270C= (p.Ala757=)
4g.47936449G>TCA356822933CNGA1,NIPAL1c.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)
4g.47936450C>ACA356822934CNGA1,NIPAL1c.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)
4g.47936450C>GCA356822935CNGA1,NIPAL1c.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)
4g.47936450C>TCA356822936CNGA1,NIPAL1c.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)
4g.47936451T>ACA439247985CNGA1,NIPAL1c.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=)
4g.47936451T>CCA439247987CNGA1,NIPAL1c.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=)
4g.47936451T>GCA439247988CNGA1,NIPAL1c.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=)
4g.47936452C>ACA356822937CNGA1,NIPAL1c.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)
4g.47936452C=CA1455551584CNGA1,NIPAL1c.2030G= (p.Gly677=)
c.2042G= (p.Gly681=)
c.2249G= (p.Gly750=)
n.478+21748C=
n.563+21748C=
c.2267G= (p.Gly756=)
4g.47936452C>GCA2910971CNGA1,NIPAL1c.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
4g.47936452C>TCA356822938CNGA1,NIPAL1c.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)
4g.47936453C>ACA356822939CNGA1,NIPAL1c.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)
4g.47936453C>GCA356822940CNGA1,NIPAL1c.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)
4g.47936453C>TCA356822941CNGA1,NIPAL1c.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)
4g.47936454A>CCA439247990CNGA1,NIPAL1c.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=)
4g.47936454A>GCA439247991CNGA1,NIPAL1c.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=)
4g.47936454A>TCA439247992CNGA1,NIPAL1c.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=)
4g.47936455G>ACA2910972CNGA1,NIPAL1c.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
4g.47936455G>CCA356822943CNGA1,NIPAL1c.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)
4g.47936455G=CA1455551585CNGA1,NIPAL1c.2027C= (p.Pro676=)
c.2039C= (p.Pro680=)
c.2246C= (p.Pro749=)
n.478+21751G=
n.563+21751G=
c.2264C= (p.Pro755=)
4g.47936455G>TCA356822942CNGA1,NIPAL1c.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)
4g.47936456G>ACA356822944CNGA1,NIPAL1c.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)
4g.47936456G>CCA356822945CNGA1,NIPAL1c.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)
4g.47936456G>TCA356822946CNGA1,NIPAL1c.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)
4g.47936457T>ACA439247997CNGA1,NIPAL1c.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=)
4g.47936457T>CCA439247998CNGA1,NIPAL1c.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=)
4g.47936457T>GCA439247999CNGA1,NIPAL1c.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=)
4g.47936458C>ACA356822947CNGA1,NIPAL1c.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)
4g.47936458C=CA1455551586CNGA1,NIPAL1c.2024G= (p.Gly675=)
c.2036G= (p.Gly679=)
c.2243G= (p.Gly748=)
n.478+21754C=
n.563+21754C=
c.2261G= (p.Gly754=)
4g.47936458C>GCA356822948CNGA1,NIPAL1c.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
4g.47936458C>TCA356822949CNGA1,NIPAL1c.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
4g.47936459C>ACA96687724CNGA1,NIPAL1c.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
4g.47936459C=CA1455551587CNGA1,NIPAL1c.2023G= (p.Gly675=)
c.2035G= (p.Gly679=)
c.2242G= (p.Gly748=)
n.478+21755C=
n.563+21755C=
c.2260G= (p.Gly754=)
4g.47936459C>GCA356822950CNGA1,NIPAL1c.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
4g.47936459C>TCA356822951CNGA1,NIPAL1c.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)
4g.47936460C>ACA356822952CNGA1,NIPAL1c.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)
4g.47936460C=CA1455551588CNGA1,NIPAL1c.2022G= (p.Glu674=)
c.2034G= (p.Glu678=)
c.2241G= (p.Glu747=)
n.478+21756C=
n.563+21756C=
c.2259G= (p.Glu753=)
4g.47936460C>GCA356822953CNGA1,NIPAL1c.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
4g.47936460C>TCA439248003CNGA1,NIPAL1c.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=)
4g.47936461T>ACA356822956CNGA1,NIPAL1c.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)
4g.47936461T>CCA356822955CNGA1,NIPAL1c.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)
4g.47936461T>GCA356822954CNGA1,NIPAL1c.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)
4g.47936462C>ACA356822957CNGA1,NIPAL1c.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)
4g.47936462C=CA1455551589CNGA1,NIPAL1c.2020G= (p.Glu674=)
c.2032G= (p.Glu678=)
c.2239G= (p.Glu747=)
n.478+21758C=
n.563+21758C=
c.2257G= (p.Glu753=)
4g.47936462C>GCA356822958CNGA1,NIPAL1c.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)
4g.47936462C>TCA96687730CNGA1,NIPAL1c.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
4g.47936463A>CCA356822959CNGA1,NIPAL1c.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)
4g.47936463A>GCA439248006CNGA1,NIPAL1c.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
4g.47936463A>TCA439248007CNGA1,NIPAL1c.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=)
4g.47936464A=CA1455551590CNGA1,NIPAL1c.2018T= (p.Ile673=)
c.2030T= (p.Ile677=)
c.2237T= (p.Ile746=)
n.478+21760A=
n.563+21760A=
c.2255T= (p.Ile752=)
4g.47936464A>CCA356822960CNGA1,NIPAL1c.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)
4g.47936464A>GCA2910973CNGA1,NIPAL1c.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
4g.47936464A>TCA356822961CNGA1,NIPAL1c.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)
4g.47936465T>ACA356822962CNGA1,NIPAL1c.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)
4g.47936465T>CCA356822963CNGA1,NIPAL1c.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)
4g.47936465T>GCA356822964CNGA1,NIPAL1c.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)
4g.47936466A>CCA356822965CNGA1,NIPAL1c.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)
4g.47936466A>GCA439248008CNGA1,NIPAL1c.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=)
4g.47936466A>TCA356822966CNGA1,NIPAL1c.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)
4g.47936467C>ACA356822968CNGA1,NIPAL1c.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)
4g.47936467C>GCA356822969CNGA1,NIPAL1c.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)
4g.47936467C>TCA356822967CNGA1,NIPAL1c.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)
4g.47936468T>ACA356822972CNGA1,NIPAL1c.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)
4g.47936468T>CCA356822970CNGA1,NIPAL1c.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)
4g.47936468T>GCA356822971CNGA1,NIPAL1c.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)
4g.47936469T>ACA439248018CNGA1,NIPAL1c.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=)
4g.47936469T>CCA439248016CNGA1,NIPAL1c.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=)
4g.47936469T>GCA439248015CNGA1,NIPAL1c.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=)
4g.47936470G>ACA356822973CNGA1,NIPAL1c.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)
4g.47936470G>CCA356822974CNGA1,NIPAL1c.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)
4g.47936470G>TCA356822975CNGA1,NIPAL1c.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)
4g.47936471A>CCA356822976CNGA1,NIPAL1c.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)
4g.47936471A>GCA356822977CNGA1,NIPAL1c.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)
4g.47936471A>TCA356822978CNGA1,NIPAL1c.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)
4g.47936472A>CCA356822979CNGA1,NIPAL1c.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)
4g.47936472A>GCA439248021CNGA1,NIPAL1c.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=)
4g.47936472A>TCA356822980CNGA1,NIPAL1c.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)
4g.47936473A>CCA356822981CNGA1,NIPAL1c.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)
4g.47936473A>GCA356822982CNGA1,NIPAL1c.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)
4g.47936473A>TCA356822983CNGA1,NIPAL1c.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)
4g.47936474A=CA1455551591CNGA1,NIPAL1c.2008T= (p.Phe670=)
c.2020T= (p.Phe674=)
c.2227T= (p.Phe743=)
n.478+21770A=
n.563+21770A=
c.2245T= (p.Phe749=)
4g.47936474A>CCA356822984CNGA1,NIPAL1c.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)
4g.47936474A>GCA356822985CNGA1,NIPAL1c.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)
4g.47936474A>TCA2910974CNGA1,NIPAL1c.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
4g.47936475T>ACA356822986CNGA1,NIPAL1c.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)
4g.47936475T>CCA439248026CNGA1,NIPAL1c.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
4g.47936475T>GCA356822987CNGA1,NIPAL1c.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)
4g.47936475T=CA1455551592CNGA1,NIPAL1c.2007A= (p.Glu669=)
c.2019A= (p.Glu673=)
c.2226A= (p.Glu742=)
n.478+21771T=
n.563+21771T=
c.2244A= (p.Glu748=)
4g.47936476T>ACA356822988CNGA1,NIPAL1c.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)
4g.47936476T>CCA356822989CNGA1,NIPAL1c.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)
4g.47936476T>GCA356822990CNGA1,NIPAL1c.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
4g.47936477C>ACA356822991CNGA1,NIPAL1c.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)
4g.47936477C>GCA356822992CNGA1,NIPAL1c.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
4g.47936477C>TCA356822993CNGA1,NIPAL1c.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)
4g.47936478T>ACA439248028CNGA1,NIPAL1c.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=)
4g.47936478T>CCA439248029CNGA1,NIPAL1c.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=)
4g.47936478T>GCA439248030CNGA1,NIPAL1c.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=)
4g.47936479G>ACA356822994CNGA1,NIPAL1c.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
4g.47936479G>CCA2910975CNGA1,NIPAL1c.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
4g.47936479G=CA1455551593CNGA1,NIPAL1c.2003C= (p.Thr668=)
c.2015C= (p.Thr672=)
c.2222C= (p.Thr741=)
n.478+21775G=
n.563+21775G=
c.2240C= (p.Thr747=)
4g.47936479G>TCA356822995CNGA1,NIPAL1c.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)
4g.47936480T>ACA356822998CNGA1,NIPAL1c.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)
4g.47936480T>CCA356822997CNGA1,NIPAL1c.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)
4g.47936480T>GCA356822996CNGA1,NIPAL1c.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)
4g.47936480dupCA2670552338CNGA1,NIPAL1c.2002dup (p.Thr668AsnfsTer7)
c.2014dup (p.Thr672AsnfsTer7)
c.2221dup (p.Thr741AsnfsTer7)
n.478+21776dup
n.563+21776dup
c.2239dup (p.Thr747AsnfsTer7)
 gnomAD v4
4g.47936481G>ACA439248033CNGA1,NIPAL1c.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=)
4g.47936481G>CCA356823000CNGA1,NIPAL1c.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)
4g.47936481G>TCA356822999CNGA1,NIPAL1c.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)
4g.47936482T>ACA356823001CNGA1,NIPAL1c.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)
4g.47936482T>CCA356823002CNGA1,NIPAL1c.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)
4g.47936482T>GCA356823003CNGA1,NIPAL1c.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)
4g.47936483C>ACA356823004CNGA1,NIPAL1c.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)
4g.47936483C>GCA356823005CNGA1,NIPAL1c.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)
4g.47936483C>TCA356823006CNGA1,NIPAL1c.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
4g.47936484A>CCA356823007CNGA1,NIPAL1c.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)
4g.47936484A>GCA439248035CNGA1,NIPAL1c.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=)
4g.47936484A>TCA439248036CNGA1,NIPAL1c.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=)
4g.47936485A=CA1455551594CNGA1,NIPAL1c.1997T= (p.Ile666=)
c.2009T= (p.Ile670=)
c.2216T= (p.Ile739=)
n.478+21781A=
n.563+21781A=
c.2234T= (p.Ile745=)
4g.47936485A>CCA356823008CNGA1,NIPAL1c.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)
4g.47936485A>GCA356823009CNGA1,NIPAL1c.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
4g.47936485A>TCA356823010CNGA1,NIPAL1c.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)
4g.47936486T>ACA356823011CNGA1,NIPAL1c.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)
4g.47936486T>CCA356823012CNGA1,NIPAL1c.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
4g.47936486T>GCA356823013CNGA1,NIPAL1c.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)
4g.47936487A>CCA439248038CNGA1,NIPAL1c.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=)
4g.47936487A>GCA439248039CNGA1,NIPAL1c.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=)
4g.47936487A>TCA439248040CNGA1,NIPAL1c.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=)
4g.47936488A>CCA356823014CNGA1,NIPAL1c.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)
4g.47936488A>GCA356823016CNGA1,NIPAL1c.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
4g.47936488A>TCA356823015CNGA1,NIPAL1c.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)
4g.47936489G>ACA356823017CNGA1,NIPAL1c.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)
4g.47936489G>CCA356823018CNGA1,NIPAL1c.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)
4g.47936489G>TCA356823019CNGA1,NIPAL1c.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)
4g.47936490C>ACA439248044CNGA1,NIPAL1c.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=)
4g.47936490C=CA1455551595CNGA1,NIPAL1c.1992G= (p.Pro664=)
c.2004G= (p.Pro668=)
c.2211G= (p.Pro737=)
n.478+21786C=
n.563+21786C=
c.2229G= (p.Pro743=)
4g.47936490C>GCA439248043CNGA1,NIPAL1c.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=)
4g.47936490C>TCA2910976CNGA1,NIPAL1c.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
4g.47936491G>ACA2910977CNGA1,NIPAL1c.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
4g.47936491G>CCA356823020CNGA1,NIPAL1c.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)
4g.47936491G=CA1455551596CNGA1,NIPAL1c.1991C= (p.Pro664=)
c.2003C= (p.Pro668=)
c.2210C= (p.Pro737=)
n.478+21787G=
n.563+21787G=
c.2228C= (p.Pro743=)
4g.47936491G>TCA2910978CNGA1,NIPAL1c.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
4g.47936492G>ACA356823021CNGA1,NIPAL1c.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)
4g.47936492G>CCA356823022CNGA1,NIPAL1c.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)
4g.47936492G=CA1455551597CNGA1,NIPAL1c.1990C= (p.Pro664=)
c.2002C= (p.Pro668=)
c.2209C= (p.Pro737=)
n.478+21788G=
n.563+21788G=
c.2227C= (p.Pro743=)
4g.47936492G>TCA2910979CNGA1,NIPAL1c.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
4g.47936493T>ACA356823023CNGA1,NIPAL1c.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)
4g.47936493T>CCA439248049CNGA1,NIPAL1c.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=)
4g.47936493T>GCA356823024CNGA1,NIPAL1c.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)
4g.47936494T>ACA356823026CNGA1,NIPAL1c.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)
4g.47936494T>CCA356823027CNGA1,NIPAL1c.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)
4g.47936494T>GCA356823025CNGA1,NIPAL1c.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)
4g.47936495T>ACA356823028CNGA1,NIPAL1c.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)
4g.47936495T>CCA356823030CNGA1,NIPAL1c.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)
4g.47936495T>GCA356823029CNGA1,NIPAL1c.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
4g.47936496C>ACA439248056CNGA1,NIPAL1c.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
4g.47936496C=CA1455551598CNGA1,NIPAL1c.1986G= (p.Leu662=)
c.1998G= (p.Leu666=)
c.2205G= (p.Leu735=)
n.478+21792C=
n.563+21792C=
c.2223G= (p.Leu741=)
4g.47936496C>GCA439248057CNGA1,NIPAL1c.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=)
4g.47936496C>TCA439248058CNGA1,NIPAL1c.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=)
4g.47936497A=CA1455551599CNGA1,NIPAL1c.1985T= (p.Leu662=)
c.1997T= (p.Leu666=)
c.2204T= (p.Leu735=)
n.478+21793A=
n.563+21793A=
c.2222T= (p.Leu741=)
4g.47936497A>CCA356823031CNGA1,NIPAL1c.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)
4g.47936497A>GCA2910980CNGA1,NIPAL1c.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
4g.47936497A>TCA356823032CNGA1,NIPAL1c.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)
4g.47936498G>ACA439248065CNGA1,NIPAL1c.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
4g.47936498G>CCA356823033CNGA1,NIPAL1c.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)
4g.47936498G>TCA356823034CNGA1,NIPAL1c.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)
4g.47936498_47936499delinsGACA1455551600CNGA1,NIPAL1c.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=)
4g.47936499A>CCA356823035CNGA1,NIPAL1c.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)
4g.47936499A>GCA439248066CNGA1,NIPAL1c.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=)
4g.47936499A>TCA356823036CNGA1,NIPAL1c.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)
4g.47936501delCA551650454CNGA1,NIPAL1c.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
4g.47936500A=CA1455551601CNGA1,NIPAL1c.1982T= (p.Phe661=)
c.1994T= (p.Phe665=)
c.2201T= (p.Phe734=)
n.478+21796A=
n.563+21796A=
c.2219T= (p.Phe740=)
4g.47936500A>CCA356823037CNGA1,NIPAL1c.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)
4g.47936500A>GCA2910981CNGA1,NIPAL1c.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
4g.47936500A>TCA356823038CNGA1,NIPAL1c.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)
4g.47936501A=CA1455551602CNGA1,NIPAL1c.1981T= (p.Phe661=)
c.1993T= (p.Phe665=)
c.2200T= (p.Phe734=)
n.478+21797A=
n.563+21797A=
c.2218T= (p.Phe740=)
4g.47936501A>CCA356823039CNGA1,NIPAL1c.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)
4g.47936501A>GCA356823040CNGA1,NIPAL1c.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
4g.47936501A>TCA356823041CNGA1,NIPAL1c.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)
4g.47936502T>ACA356823042CNGA1,NIPAL1c.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)
4g.47936502T>CCA439248073CNGA1,NIPAL1c.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
4g.47936502T>GCA356823043CNGA1,NIPAL1c.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)
4g.47936503T>ACA356823044CNGA1,NIPAL1c.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)
4g.47936503T>CCA356823045CNGA1,NIPAL1c.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
4g.47936503T>GCA356823046CNGA1,NIPAL1c.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
4g.47936503T=CA1455551603CNGA1,NIPAL1c.1979A= (p.Lys660=)
c.1991A= (p.Lys664=)
c.2198A= (p.Lys733=)
n.478+21799T=
n.563+21799T=
c.2216A= (p.Lys739=)
4g.47936504T>ACA356823047CNGA1,NIPAL1c.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)
4g.47936504T>CCA356823048CNGA1,NIPAL1c.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)
4g.47936504T>GCA356823049CNGA1,NIPAL1c.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)
4g.47936505C>ACA356823050CNGA1,NIPAL1c.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)
4g.47936505C>GCA356823051CNGA1,NIPAL1c.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)
4g.47936505C>TCA439248080CNGA1,NIPAL1c.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=)
4g.47936506T>ACA356823052CNGA1,NIPAL1c.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)
4g.47936506T>CCA356823053CNGA1,NIPAL1c.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)
4g.47936506T>GCA356823054CNGA1,NIPAL1c.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)
4g.47936507C>ACA356823057CNGA1,NIPAL1c.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)
4g.47936507C>GCA356823056CNGA1,NIPAL1c.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)
4g.47936507C>TCA356823055CNGA1,NIPAL1c.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)
4g.47936508A=CA1455551604CNGA1,NIPAL1c.1974T= (p.Val658=)
c.1986T= (p.Val662=)
c.2193T= (p.Val731=)
n.478+21804A=
n.563+21804A=
c.2211T= (p.Val737=)
4g.47936508A>CCA439248088CNGA1,NIPAL1c.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
4g.47936508A>GCA439248089CNGA1,NIPAL1c.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=)
4g.47936508A>TCA2910982CNGA1,NIPAL1c.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
4g.47936509A=CA1455551605CNGA1,NIPAL1c.1973T= (p.Val658=)
c.1985T= (p.Val662=)
c.2192T= (p.Val731=)
n.478+21805A=
n.563+21805A=
c.2210T= (p.Val737=)
4g.47936509A>CCA356823058CNGA1,NIPAL1c.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)
4g.47936509A>GCA2910983CNGA1,NIPAL1c.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
4g.47936509A>TCA356823059CNGA1,NIPAL1c.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)
4g.47936510C>ACA356823060CNGA1,NIPAL1c.1972G>T (p.Val658Phe)
c.1984G>T (p.Val662Phe)
c.2191G>T (p.Val731Phe)
n.478+21806C>A
n.563+21806C>A
c.2209G>T (p.Val737Phe)
 gnomAD v4
4g.47936510C>GCA356823061CNGA1,NIPAL1c.1972G>C (p.Val658Leu)
c.1984G>C (p.Val662Leu)
c.2191G>C (p.Val731Leu)
n.478+21806C>G
n.563+21806C>G
c.2209G>C (p.Val737Leu)
4g.47936510C>TCA356823062CNGA1,NIPAL1c.1972G>A (p.Val658Ile)
c.1984G>A (p.Val662Ile)
c.2191G>A (p.Val731Ile)
n.478+21806C>T
n.563+21806C>T
c.2209G>A (p.Val737Ile)
 gnomAD v4
4g.47936511C>ACA356823063CNGA1,NIPAL1c.1971G>T (p.Lys657Asn)
c.1983G>T (p.Lys661Asn)
c.2190G>T (p.Lys730Asn)
n.478+21807C>A
n.563+21807C>A
c.2208G>T (p.Lys736Asn)
4g.47936511C>GCA356823064CNGA1,NIPAL1c.1971G>C (p.Lys657Asn)
c.1983G>C (p.Lys661Asn)
c.2190G>C (p.Lys730Asn)
n.478+21807C>G
n.563+21807C>G
c.2208G>C (p.Lys736Asn)
4g.47936511C>TCA439248097CNGA1,NIPAL1c.1971G>A (p.Lys657=)
c.1983G>A (p.Lys661=)
c.2190G>A (p.Lys730=)
n.478+21807C>T
n.563+21807C>T
c.2208G>A (p.Lys736=)
4g.47936512T>ACA356823065CNGA1,NIPAL1c.1970A>T (p.Lys657Met)
c.1982A>T (p.Lys661Met)
c.2189A>T (p.Lys730Met)
n.478+21808T>A
n.563+21808T>A
c.2207A>T (p.Lys736Met)
4g.47936512T>CCA356823066CNGA1,NIPAL1c.1970A>G (p.Lys657Arg)
c.1982A>G (p.Lys661Arg)
c.2189A>G (p.Lys730Arg)
n.478+21808T>C
n.563+21808T>C
c.2207A>G (p.Lys736Arg)
4g.47936512T>GCA356823067CNGA1,NIPAL1c.1970A>C (p.Lys657Thr)
c.1982A>C (p.Lys661Thr)
c.2189A>C (p.Lys730Thr)
n.478+21808T>G
n.563+21808T>G
c.2207A>C (p.Lys736Thr)
4g.47936513T>ACA356823069CNGA1,NIPAL1c.1969A>T (p.Lys657Ter)
c.1981A>T (p.Lys661Ter)
c.2188A>T (p.Lys730Ter)
n.478+21809T>A
n.563+21809T>A
c.2206A>T (p.Lys736Ter)
4g.47936513T>CCA96687830CNGA1,NIPAL1c.1969A>G (p.Lys657Glu)
c.1981A>G (p.Lys661Glu)
c.2188A>G (p.Lys730Glu)
n.478+21809T>C
n.563+21809T>C
c.2206A>G (p.Lys736Glu)
 ClinVar dbSNP gnomAD v4 COSMIC
4g.47936513T>GCA356823068CNGA1,NIPAL1c.1969A>C (p.Lys657Gln)
c.1981A>C (p.Lys661Gln)
c.2188A>C (p.Lys730Gln)
n.478+21809T>G
n.563+21809T>G
c.2206A>C (p.Lys736Gln)
 dbSNP gnomAD v3 gnomAD v4
4g.47936513T=CA1455551606CNGA1,NIPAL1c.1969A= (p.Lys657=)
c.1981A= (p.Lys661=)
c.2188A= (p.Lys730=)
n.478+21809T=
n.563+21809T=
c.2206A= (p.Lys736=)
4g.47936514G>ACA439248103CNGA1,NIPAL1c.1968C>T (p.Thr656=)
c.1980C>T (p.Thr660=)
c.2187C>T (p.Thr729=)
n.478+21810G>A
n.563+21810G>A
c.2205C>T (p.Thr735=)
 dbSNP gnomAD v4 COSMIC
4g.47936514G>CCA439248104CNGA1,NIPAL1c.1968C>G (p.Thr656=)
c.1980C>G (p.Thr660=)
c.2187C>G (p.Thr729=)
n.478+21810G>C
n.563+21810G>C
c.2205C>G (p.Thr735=)
4g.47936514G=CA1455551607CNGA1,NIPAL1c.1968C= (p.Thr656=)
c.1980C= (p.Thr660=)
c.2187C= (p.Thr729=)
n.478+21810G=
n.563+21810G=
c.2205C= (p.Thr735=)
4g.47936514G>TCA439248107CNGA1,NIPAL1c.1968C>A (p.Thr656=)
c.1980C>A (p.Thr660=)
c.2187C>A (p.Thr729=)
n.478+21810G>T
n.563+21810G>T
c.2205C>A (p.Thr735=)
 dbSNP gnomAD v2 gnomAD v4
4g.47936514_47936515insTTACA2578081537CNGA1,NIPAL1c.1967_1968insTAA (p.Thr656_Lys657insAsn)
c.1979_1980insTAA (p.Thr660_Lys661insAsn)
c.2186_2187insTAA (p.Thr729_Lys730insAsn)
n.478+21810_478+21811insTTA
n.563+21810_563+21811insTTA
c.2204_2205insTAA (p.Thr735_Lys736insAsn)
4g.47936515G>ACA2910984CNGA1,NIPAL1c.1967C>T (p.Thr656Ile)
c.1979C>T (p.Thr660Ile)
c.2186C>T (p.Thr729Ile)
n.478+21811G>A
n.563+21811G>A
c.2204C>T (p.Thr735Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936515G>CCA356823070CNGA1,NIPAL1c.1967C>G (p.Thr656Ser)
c.1979C>G (p.Thr660Ser)
c.2186C>G (p.Thr729Ser)
n.478+21811G>C
n.563+21811G>C
c.2204C>G (p.Thr735Ser)
4g.47936515G=CA1455551608CNGA1,NIPAL1c.1967C= (p.Thr656=)
c.1979C= (p.Thr660=)
c.2186C= (p.Thr729=)
n.478+21811G=
n.563+21811G=
c.2204C= (p.Thr735=)
4g.47936515G>TCA356823071CNGA1,NIPAL1c.1967C>A (p.Thr656Asn)
c.1979C>A (p.Thr660Asn)
c.2186C>A (p.Thr729Asn)
n.478+21811G>T
n.563+21811G>T
c.2204C>A (p.Thr735Asn)
 gnomAD v4 COSMIC

Number of alleles fetched