Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
4g.47936516T>ACA356823072CNGA1,NIPAL1c.1966A>T (p.Thr656Ser)
c.1978A>T (p.Thr660Ser)
c.2185A>T (p.Thr729Ser)
n.478+21812T>A
n.563+21812T>A
c.2203A>T (p.Thr735Ser)
4g.47936516T>CCA356823073CNGA1,NIPAL1c.1966A>G (p.Thr656Ala)
c.1978A>G (p.Thr660Ala)
c.2185A>G (p.Thr729Ala)
n.478+21812T>C
n.563+21812T>C
c.2203A>G (p.Thr735Ala)
4g.47936516T>GCA356823074CNGA1,NIPAL1c.1966A>C (p.Thr656Pro)
c.1978A>C (p.Thr660Pro)
c.2185A>C (p.Thr729Pro)
n.478+21812T>G
n.563+21812T>G
c.2203A>C (p.Thr735Pro)
 COSMIC COSMIC
4g.47936517T>ACA356823075CNGA1,NIPAL1c.1965A>T (p.Leu655Phe)
c.1977A>T (p.Leu659Phe)
c.2184A>T (p.Leu728Phe)
n.478+21813T>A
n.563+21813T>A
c.2202A>T (p.Leu734Phe)
4g.47936517T>CCA439248112CNGA1,NIPAL1c.1965A>G (p.Leu655=)
c.1977A>G (p.Leu659=)
c.2184A>G (p.Leu728=)
n.478+21813T>C
n.563+21813T>C
c.2202A>G (p.Leu734=)
4g.47936517T>GCA356823076CNGA1,NIPAL1c.1965A>C (p.Leu655Phe)
c.1977A>C (p.Leu659Phe)
c.2184A>C (p.Leu728Phe)
n.478+21813T>G
n.563+21813T>G
c.2202A>C (p.Leu734Phe)
4g.47936518A>CCA356823077CNGA1,NIPAL1c.1964T>G (p.Leu655Ter)
c.1976T>G (p.Leu659Ter)
c.2183T>G (p.Leu728Ter)
n.478+21814A>C
n.563+21814A>C
c.2201T>G (p.Leu734Ter)
4g.47936518A>GCA356823078CNGA1,NIPAL1c.1964T>C (p.Leu655Ser)
c.1976T>C (p.Leu659Ser)
c.2183T>C (p.Leu728Ser)
n.478+21814A>G
n.563+21814A>G
c.2201T>C (p.Leu734Ser)
4g.47936518A>TCA356823079CNGA1,NIPAL1c.1964T>A (p.Leu655Ter)
c.1976T>A (p.Leu659Ter)
c.2183T>A (p.Leu728Ter)
n.478+21814A>T
n.563+21814A>T
c.2201T>A (p.Leu734Ter)
4g.47936519A>CCA356823080CNGA1,NIPAL1c.1963T>G (p.Leu655Val)
c.1975T>G (p.Leu659Val)
c.2182T>G (p.Leu728Val)
n.478+21815A>C
n.563+21815A>C
c.2200T>G (p.Leu734Val)
4g.47936519A>GCA439248115CNGA1,NIPAL1c.1963T>C (p.Leu655=)
c.1975T>C (p.Leu659=)
c.2182T>C (p.Leu728=)
n.478+21815A>G
n.563+21815A>G
c.2200T>C (p.Leu734=)
4g.47936519A>TCA356823081CNGA1,NIPAL1c.1963T>A (p.Leu655Ile)
c.1975T>A (p.Leu659Ile)
c.2182T>A (p.Leu728Ile)
n.478+21815A>T
n.563+21815A>T
c.2200T>A (p.Leu734Ile)
4g.47936520T>ACA356823083CNGA1,NIPAL1c.1962A>T (p.Arg654Ser)
c.1974A>T (p.Arg658Ser)
c.2181A>T (p.Arg727Ser)
n.478+21816T>A
n.563+21816T>A
c.2199A>T (p.Arg733Ser)
4g.47936520T>CCA439248116CNGA1,NIPAL1c.1962A>G (p.Arg654=)
c.1974A>G (p.Arg658=)
c.2181A>G (p.Arg727=)
n.478+21816T>C
n.563+21816T>C
c.2199A>G (p.Arg733=)
 gnomAD v4
4g.47936520T>GCA356823082CNGA1,NIPAL1c.1962A>C (p.Arg654Ser)
c.1974A>C (p.Arg658Ser)
c.2181A>C (p.Arg727Ser)
n.478+21816T>G
n.563+21816T>G
c.2199A>C (p.Arg733Ser)
4g.47936521C>ACA356823084CNGA1,NIPAL1c.1961G>T (p.Arg654Ile)
c.1973G>T (p.Arg658Ile)
c.2180G>T (p.Arg727Ile)
n.478+21817C>A
n.563+21817C>A
c.2198G>T (p.Arg733Ile)
 COSMIC
4g.47936521C=CA1455551609CNGA1,NIPAL1c.1961G= (p.Arg654=)
c.1973G= (p.Arg658=)
c.2180G= (p.Arg727=)
n.478+21817C=
n.563+21817C=
c.2198G= (p.Arg733=)
4g.47936521C>GCA2910985CNGA1,NIPAL1c.1961G>C (p.Arg654Thr)
c.1973G>C (p.Arg658Thr)
c.2180G>C (p.Arg727Thr)
n.478+21817C>G
n.563+21817C>G
c.2198G>C (p.Arg733Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936521C>TCA356823085CNGA1,NIPAL1c.1961G>A (p.Arg654Lys)
c.1973G>A (p.Arg658Lys)
c.2180G>A (p.Arg727Lys)
n.478+21817C>T
n.563+21817C>T
c.2198G>A (p.Arg733Lys)
4g.47936522T>ACA356823086CNGA1,NIPAL1c.1960A>T (p.Arg654Ter)
c.1972A>T (p.Arg658Ter)
c.2179A>T (p.Arg727Ter)
n.478+21818T>A
n.563+21818T>A
c.2197A>T (p.Arg733Ter)
4g.47936522T>CCA356823087CNGA1,NIPAL1c.1960A>G (p.Arg654Gly)
c.1972A>G (p.Arg658Gly)
c.2179A>G (p.Arg727Gly)
n.478+21818T>C
n.563+21818T>C
c.2197A>G (p.Arg733Gly)
 gnomAD v4
4g.47936522T>GCA439248119CNGA1,NIPAL1c.1960A>C (p.Arg654=)
c.1972A>C (p.Arg658=)
c.2179A>C (p.Arg727=)
n.478+21818T>G
n.563+21818T>G
c.2197A>C (p.Arg733=)
4g.47936524delCA2573320676CNGA1,NIPAL1c.1960del (p.Arg654AspfsTer2)
c.1972del (p.Arg658AspfsTer2)
c.2179del (p.Arg727AspfsTer2)
n.478+21820del
n.563+21820del
c.2197del (p.Arg733AspfsTer2)
 ClinVar
4g.47936523T>ACA356823088CNGA1,NIPAL1c.1959A>T (p.Gln653His)
c.1971A>T (p.Gln657His)
c.2178A>T (p.Gln726His)
n.478+21819T>A
n.563+21819T>A
c.2196A>T (p.Gln732His)
4g.47936523T>CCA439248120CNGA1,NIPAL1c.1959A>G (p.Gln653=)
c.1971A>G (p.Gln657=)
c.2178A>G (p.Gln726=)
n.478+21819T>C
n.563+21819T>C
c.2196A>G (p.Gln732=)
 gnomAD v4
4g.47936523T>GCA356823089CNGA1,NIPAL1c.1959A>C (p.Gln653His)
c.1971A>C (p.Gln657His)
c.2178A>C (p.Gln726His)
n.478+21819T>G
n.563+21819T>G
c.2196A>C (p.Gln732His)
 dbSNP gnomAD v2 gnomAD v4
4g.47936523T=CA1455551610CNGA1,NIPAL1c.1959A= (p.Gln653=)
c.1971A= (p.Gln657=)
c.2178A= (p.Gln726=)
n.478+21819T=
n.563+21819T=
c.2196A= (p.Gln732=)
4g.47936524T>ACA356823090CNGA1,NIPAL1c.1958A>T (p.Gln653Leu)
c.1970A>T (p.Gln657Leu)
c.2177A>T (p.Gln726Leu)
n.478+21820T>A
n.563+21820T>A
c.2195A>T (p.Gln732Leu)
4g.47936524T>CCA356823091CNGA1,NIPAL1c.1958A>G (p.Gln653Arg)
c.1970A>G (p.Gln657Arg)
c.2177A>G (p.Gln726Arg)
n.478+21820T>C
n.563+21820T>C
c.2195A>G (p.Gln732Arg)
4g.47936524T>GCA356823092CNGA1,NIPAL1c.1958A>C (p.Gln653Pro)
c.1970A>C (p.Gln657Pro)
c.2177A>C (p.Gln726Pro)
n.478+21820T>G
n.563+21820T>G
c.2195A>C (p.Gln732Pro)
4g.47936525G>ACA2910986CNGA1,NIPAL1c.1957C>T (p.Gln653Ter)
c.1969C>T (p.Gln657Ter)
c.2176C>T (p.Gln726Ter)
n.478+21821G>A
n.563+21821G>A
c.2194C>T (p.Gln732Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936525G>CCA356823093CNGA1,NIPAL1c.1957C>G (p.Gln653Glu)
c.1969C>G (p.Gln657Glu)
c.2176C>G (p.Gln726Glu)
n.478+21821G>C
n.563+21821G>C
c.2194C>G (p.Gln732Glu)
4g.47936525G=CA1455551611CNGA1,NIPAL1c.1957C= (p.Gln653=)
c.1969C= (p.Gln657=)
c.2176C= (p.Gln726=)
n.478+21821G=
n.563+21821G=
c.2194C= (p.Gln732=)
4g.47936525G>TCA356823094CNGA1,NIPAL1c.1957C>A (p.Gln653Lys)
c.1969C>A (p.Gln657Lys)
c.2176C>A (p.Gln726Lys)
n.478+21821G>T
n.563+21821G>T
c.2194C>A (p.Gln732Lys)
4g.47936526T>ACA356823095CNGA1,NIPAL1c.1956A>T (p.Lys652Asn)
c.1968A>T (p.Lys656Asn)
c.2175A>T (p.Lys725Asn)
n.478+21822T>A
n.563+21822T>A
c.2193A>T (p.Lys731Asn)
4g.47936526T>CCA439248127CNGA1,NIPAL1c.1956A>G (p.Lys652=)
c.1968A>G (p.Lys656=)
c.2175A>G (p.Lys725=)
n.478+21822T>C
n.563+21822T>C
c.2193A>G (p.Lys731=)
4g.47936526T>GCA356823096CNGA1,NIPAL1c.1956A>C (p.Lys652Asn)
c.1968A>C (p.Lys656Asn)
c.2175A>C (p.Lys725Asn)
n.478+21822T>G
n.563+21822T>G
c.2193A>C (p.Lys731Asn)
4g.47936527T>ACA356823097CNGA1,NIPAL1c.1955A>T (p.Lys652Ile)
c.1967A>T (p.Lys656Ile)
c.2174A>T (p.Lys725Ile)
n.478+21823T>A
n.563+21823T>A
c.2192A>T (p.Lys731Ile)
 dbSNP
4g.47936527T>CCA356823098CNGA1,NIPAL1c.1955A>G (p.Lys652Arg)
c.1967A>G (p.Lys656Arg)
c.2174A>G (p.Lys725Arg)
n.478+21823T>C
n.563+21823T>C
c.2192A>G (p.Lys731Arg)
4g.47936527T>GCA356823099CNGA1,NIPAL1c.1955A>C (p.Lys652Thr)
c.1967A>C (p.Lys656Thr)
c.2174A>C (p.Lys725Thr)
n.478+21823T>G
n.563+21823T>G
c.2192A>C (p.Lys731Thr)
4g.47936527T=CA1455551612CNGA1,NIPAL1c.1955A= (p.Lys652=)
c.1967A= (p.Lys656=)
c.2174A= (p.Lys725=)
n.478+21823T=
n.563+21823T=
c.2192A= (p.Lys731=)
4g.47936528T>ACA356823102CNGA1,NIPAL1c.1954A>T (p.Lys652Ter)
c.1966A>T (p.Lys656Ter)
c.2173A>T (p.Lys725Ter)
n.478+21824T>A
n.563+21824T>A
c.2191A>T (p.Lys731Ter)
4g.47936528T>CCA356823100CNGA1,NIPAL1c.1954A>G (p.Lys652Glu)
c.1966A>G (p.Lys656Glu)
c.2173A>G (p.Lys725Glu)
n.478+21824T>C
n.563+21824T>C
c.2191A>G (p.Lys731Glu)
4g.47936528T>GCA356823101CNGA1,NIPAL1c.1954A>C (p.Lys652Gln)
c.1966A>C (p.Lys656Gln)
c.2173A>C (p.Lys725Gln)
n.478+21824T>G
n.563+21824T>G
c.2191A>C (p.Lys731Gln)
4g.47936529C>ACA439248133CNGA1,NIPAL1c.1953G>T (p.Leu651=)
c.1965G>T (p.Leu655=)
c.2172G>T (p.Leu724=)
n.478+21825C>A
n.563+21825C>A
c.2190G>T (p.Leu730=)
4g.47936529C>GCA439248135CNGA1,NIPAL1c.1953G>C (p.Leu651=)
c.1965G>C (p.Leu655=)
c.2172G>C (p.Leu724=)
n.478+21825C>G
n.563+21825C>G
c.2190G>C (p.Leu730=)
4g.47936529C>TCA439248137CNGA1,NIPAL1c.1953G>A (p.Leu651=)
c.1965G>A (p.Leu655=)
c.2172G>A (p.Leu724=)
n.478+21825C>T
n.563+21825C>T
c.2190G>A (p.Leu730=)
 gnomAD v4
4g.47936530A>CCA356823103CNGA1,NIPAL1c.1952T>G (p.Leu651Arg)
c.1964T>G (p.Leu655Arg)
c.2171T>G (p.Leu724Arg)
n.478+21826A>C
n.563+21826A>C
c.2189T>G (p.Leu730Arg)
4g.47936530A>GCA356823104CNGA1,NIPAL1c.1952T>C (p.Leu651Pro)
c.1964T>C (p.Leu655Pro)
c.2171T>C (p.Leu724Pro)
n.478+21826A>G
n.563+21826A>G
c.2189T>C (p.Leu730Pro)
 ClinVar dbSNP gnomAD v4
4g.47936530A>TCA356823105CNGA1,NIPAL1c.1952T>A (p.Leu651Gln)
c.1964T>A (p.Leu655Gln)
c.2171T>A (p.Leu724Gln)
n.478+21826A>T
n.563+21826A>T
c.2189T>A (p.Leu730Gln)
 gnomAD v4
4g.47936531G>ACA439248141CNGA1,NIPAL1c.1951C>T (p.Leu651=)
c.1963C>T (p.Leu655=)
c.2170C>T (p.Leu724=)
n.478+21827G>A
n.563+21827G>A
c.2188C>T (p.Leu730=)
4g.47936531G>CCA356823106CNGA1,NIPAL1c.1951C>G (p.Leu651Val)
c.1963C>G (p.Leu655Val)
c.2170C>G (p.Leu724Val)
n.478+21827G>C
n.563+21827G>C
c.2188C>G (p.Leu730Val)
4g.47936531G>TCA356823107CNGA1,NIPAL1c.1951C>A (p.Leu651Met)
c.1963C>A (p.Leu655Met)
c.2170C>A (p.Leu724Met)
n.478+21827G>T
n.563+21827G>T
c.2188C>A (p.Leu730Met)
4g.47936532T>ACA356823108CNGA1,NIPAL1c.1950A>T (p.Lys650Asn)
c.1962A>T (p.Lys654Asn)
c.2169A>T (p.Lys723Asn)
n.478+21828T>A
n.563+21828T>A
c.2187A>T (p.Lys729Asn)
4g.47936532T>CCA439248145CNGA1,NIPAL1c.1950A>G (p.Lys650=)
c.1962A>G (p.Lys654=)
c.2169A>G (p.Lys723=)
n.478+21828T>C
n.563+21828T>C
c.2187A>G (p.Lys729=)
4g.47936532T>GCA356823109CNGA1,NIPAL1c.1950A>C (p.Lys650Asn)
c.1962A>C (p.Lys654Asn)
c.2169A>C (p.Lys723Asn)
n.478+21828T>G
n.563+21828T>G
c.2187A>C (p.Lys729Asn)
4g.47936533T>ACA356823110CNGA1,NIPAL1c.1949A>T (p.Lys650Ile)
c.1961A>T (p.Lys654Ile)
c.2168A>T (p.Lys723Ile)
n.478+21829T>A
n.563+21829T>A
c.2186A>T (p.Lys729Ile)
4g.47936533T>CCA356823111CNGA1,NIPAL1c.1949A>G (p.Lys650Arg)
c.1961A>G (p.Lys654Arg)
c.2168A>G (p.Lys723Arg)
n.478+21829T>C
n.563+21829T>C
c.2186A>G (p.Lys729Arg)
4g.47936533T>GCA356823112CNGA1,NIPAL1c.1949A>C (p.Lys650Thr)
c.1961A>C (p.Lys654Thr)
c.2168A>C (p.Lys723Thr)
n.478+21829T>G
n.563+21829T>G
c.2186A>C (p.Lys729Thr)
4g.47936534T>ACA356823114CNGA1,NIPAL1c.1948A>T (p.Lys650Ter)
c.1960A>T (p.Lys654Ter)
c.2167A>T (p.Lys723Ter)
n.478+21830T>A
n.563+21830T>A
c.2185A>T (p.Lys729Ter)
4g.47936534T>CCA356823115CNGA1,NIPAL1c.1948A>G (p.Lys650Glu)
c.1960A>G (p.Lys654Glu)
c.2167A>G (p.Lys723Glu)
n.478+21830T>C
n.563+21830T>C
c.2185A>G (p.Lys729Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.47936534T>GCA356823113CNGA1,NIPAL1c.1948A>C (p.Lys650Gln)
c.1960A>C (p.Lys654Gln)
c.2167A>C (p.Lys723Gln)
n.478+21830T>G
n.563+21830T>G
c.2185A>C (p.Lys729Gln)
4g.47936534T=CA1455551613CNGA1,NIPAL1c.1948A= (p.Lys650=)
c.1960A= (p.Lys654=)
c.2167A= (p.Lys723=)
n.478+21830T=
n.563+21830T=
c.2185A= (p.Lys729=)
4g.47936535C>ACA356823116CNGA1,NIPAL1c.1947G>T (p.Gln649His)
c.1959G>T (p.Gln653His)
c.2166G>T (p.Gln722His)
n.478+21831C>A
n.563+21831C>A
c.2184G>T (p.Gln728His)
4g.47936535C>GCA356823117CNGA1,NIPAL1c.1947G>C (p.Gln649His)
c.1959G>C (p.Gln653His)
c.2166G>C (p.Gln722His)
n.478+21831C>G
n.563+21831C>G
c.2184G>C (p.Gln728His)
4g.47936535C>TCA439248152CNGA1,NIPAL1c.1947G>A (p.Gln649=)
c.1959G>A (p.Gln653=)
c.2166G>A (p.Gln722=)
n.478+21831C>T
n.563+21831C>T
c.2184G>A (p.Gln728=)
4g.47936536T>ACA356823118CNGA1,NIPAL1c.1946A>T (p.Gln649Leu)
c.1958A>T (p.Gln653Leu)
c.2165A>T (p.Gln722Leu)
n.478+21832T>A
n.563+21832T>A
c.2183A>T (p.Gln728Leu)
4g.47936536T>CCA356823119CNGA1,NIPAL1c.1946A>G (p.Gln649Arg)
c.1958A>G (p.Gln653Arg)
c.2165A>G (p.Gln722Arg)
n.478+21832T>C
n.563+21832T>C
c.2183A>G (p.Gln728Arg)
4g.47936536T>GCA96687867CNGA1,NIPAL1c.1946A>C (p.Gln649Pro)
c.1958A>C (p.Gln653Pro)
c.2165A>C (p.Gln722Pro)
n.478+21832T>G
n.563+21832T>G
c.2183A>C (p.Gln728Pro)
 dbSNP
4g.47936536T=CA1455551614CNGA1,NIPAL1c.1946A= (p.Gln649=)
c.1958A= (p.Gln653=)
c.2165A= (p.Gln722=)
n.478+21832T=
n.563+21832T=
c.2183A= (p.Gln728=)
4g.47936537G>ACA356823122CNGA1,NIPAL1c.1945C>T (p.Gln649Ter)
c.1957C>T (p.Gln653Ter)
c.2164C>T (p.Gln722Ter)
n.478+21833G>A
n.563+21833G>A
c.2182C>T (p.Gln728Ter)
 gnomAD v4
4g.47936537G>CCA356823120CNGA1,NIPAL1c.1945C>G (p.Gln649Glu)
c.1957C>G (p.Gln653Glu)
c.2164C>G (p.Gln722Glu)
n.478+21833G>C
n.563+21833G>C
c.2182C>G (p.Gln728Glu)
4g.47936537G>TCA356823121CNGA1,NIPAL1c.1945C>A (p.Gln649Lys)
c.1957C>A (p.Gln653Lys)
c.2164C>A (p.Gln722Lys)
n.478+21833G>T
n.563+21833G>T
c.2182C>A (p.Gln728Lys)
4g.47936538C>ACA356823123CNGA1,NIPAL1c.1944G>T (p.Gln648His)
c.1956G>T (p.Gln652His)
c.2163G>T (p.Gln721His)
n.478+21834C>A
n.563+21834C>A
c.2181G>T (p.Gln727His)
4g.47936538C>GCA356823124CNGA1,NIPAL1c.1944G>C (p.Gln648His)
c.1956G>C (p.Gln652His)
c.2163G>C (p.Gln721His)
n.478+21834C>G
n.563+21834C>G
c.2181G>C (p.Gln727His)
4g.47936538C>TCA439248157CNGA1,NIPAL1c.1944G>A (p.Gln648=)
c.1956G>A (p.Gln652=)
c.2163G>A (p.Gln721=)
n.478+21834C>T
n.563+21834C>T
c.2181G>A (p.Gln727=)
4g.47936539T>ACA356823125CNGA1,NIPAL1c.1943A>T (p.Gln648Leu)
c.1955A>T (p.Gln652Leu)
c.2162A>T (p.Gln721Leu)
n.478+21835T>A
n.563+21835T>A
c.2180A>T (p.Gln727Leu)
4g.47936539T>CCA356823126CNGA1,NIPAL1c.1943A>G (p.Gln648Arg)
c.1955A>G (p.Gln652Arg)
c.2162A>G (p.Gln721Arg)
n.478+21835T>C
n.563+21835T>C
c.2180A>G (p.Gln727Arg)
4g.47936539T>GCA356823127CNGA1,NIPAL1c.1943A>C (p.Gln648Pro)
c.1955A>C (p.Gln652Pro)
c.2162A>C (p.Gln721Pro)
n.478+21835T>G
n.563+21835T>G
c.2180A>C (p.Gln727Pro)
4g.47936540G>ACA356823128CNGA1,NIPAL1c.1942C>T (p.Gln648Ter)
c.1954C>T (p.Gln652Ter)
c.2161C>T (p.Gln721Ter)
n.478+21836G>A
n.563+21836G>A
c.2179C>T (p.Gln727Ter)
 dbSNP
4g.47936540G>CCA356823130CNGA1,NIPAL1c.1942C>G (p.Gln648Glu)
c.1954C>G (p.Gln652Glu)
c.2161C>G (p.Gln721Glu)
n.478+21836G>C
n.563+21836G>C
c.2179C>G (p.Gln727Glu)
4g.47936540G=CA1455551615CNGA1,NIPAL1c.1942C= (p.Gln648=)
c.1954C= (p.Gln652=)
c.2161C= (p.Gln721=)
n.478+21836G=
n.563+21836G=
c.2179C= (p.Gln727=)
4g.47936540G>TCA356823129CNGA1,NIPAL1c.1942C>A (p.Gln648Lys)
c.1954C>A (p.Gln652Lys)
c.2161C>A (p.Gln721Lys)
n.478+21836G>T
n.563+21836G>T
c.2179C>A (p.Gln727Lys)
4g.47936541C>ACA356823131CNGA1,NIPAL1c.1941G>T (p.Met647Ile)
c.1953G>T (p.Met651Ile)
c.2160G>T (p.Met720Ile)
n.478+21837C>A
n.563+21837C>A
c.2178G>T (p.Met726Ile)
4g.47936541C>GCA356823132CNGA1,NIPAL1c.1941G>C (p.Met647Ile)
c.1953G>C (p.Met651Ile)
c.2160G>C (p.Met720Ile)
n.478+21837C>G
n.563+21837C>G
c.2178G>C (p.Met726Ile)
4g.47936541C>TCA356823133CNGA1,NIPAL1c.1941G>A (p.Met647Ile)
c.1953G>A (p.Met651Ile)
c.2160G>A (p.Met720Ile)
n.478+21837C>T
n.563+21837C>T
c.2178G>A (p.Met726Ile)
 ClinVar gnomAD v4 COSMIC
4g.47936542A=CA1455551616CNGA1,NIPAL1c.1940T= (p.Met647=)
c.1952T= (p.Met651=)
c.2159T= (p.Met720=)
n.478+21838A=
n.563+21838A=
c.2177T= (p.Met726=)
4g.47936542A>CCA356823134CNGA1,NIPAL1c.1940T>G (p.Met647Arg)
c.1952T>G (p.Met651Arg)
c.2159T>G (p.Met720Arg)
n.478+21838A>C
n.563+21838A>C
c.2177T>G (p.Met726Arg)
4g.47936542A>GCA2910987CNGA1,NIPAL1c.1940T>C (p.Met647Thr)
c.1952T>C (p.Met651Thr)
c.2159T>C (p.Met720Thr)
n.478+21838A>G
n.563+21838A>G
c.2177T>C (p.Met726Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936542A>TCA356823135CNGA1,NIPAL1c.1940T>A (p.Met647Lys)
c.1952T>A (p.Met651Lys)
c.2159T>A (p.Met720Lys)
n.478+21838A>T
n.563+21838A>T
c.2177T>A (p.Met726Lys)
4g.47936543T>ACA356823136CNGA1,NIPAL1c.1939A>T (p.Met647Leu)
c.1951A>T (p.Met651Leu)
c.2158A>T (p.Met720Leu)
n.478+21839T>A
n.563+21839T>A
c.2176A>T (p.Met726Leu)
 gnomAD v4
4g.47936543T>CCA2910988CNGA1,NIPAL1c.1939A>G (p.Met647Val)
c.1951A>G (p.Met651Val)
c.2158A>G (p.Met720Val)
n.478+21839T>C
n.563+21839T>C
c.2176A>G (p.Met726Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936543T>GCA356823137CNGA1,NIPAL1c.1939A>C (p.Met647Leu)
c.1951A>C (p.Met651Leu)
c.2158A>C (p.Met720Leu)
n.478+21839T>G
n.563+21839T>G
c.2176A>C (p.Met726Leu)
 dbSNP gnomAD v2
4g.47936543T=CA1455551617CNGA1,NIPAL1c.1939A= (p.Met647=)
c.1951A= (p.Met651=)
c.2158A= (p.Met720=)
n.478+21839T=
n.563+21839T=
c.2176A= (p.Met726=)
4g.47936544G>ACA439248168CNGA1,NIPAL1c.1938C>T (p.Ser646=)
c.1950C>T (p.Ser650=)
c.2157C>T (p.Ser719=)
n.478+21840G>A
n.563+21840G>A
c.2175C>T (p.Ser725=)
 dbSNP gnomAD v3 gnomAD v4
4g.47936544G>CCA439248167CNGA1,NIPAL1c.1938C>G (p.Ser646=)
c.1950C>G (p.Ser650=)
c.2157C>G (p.Ser719=)
n.478+21840G>C
n.563+21840G>C
c.2175C>G (p.Ser725=)
4g.47936544G=CA1455551618CNGA1,NIPAL1c.1938C= (p.Ser646=)
c.1950C= (p.Ser650=)
c.2157C= (p.Ser719=)
n.478+21840G=
n.563+21840G=
c.2175C= (p.Ser725=)
4g.47936544G>TCA439248166CNGA1,NIPAL1c.1938C>A (p.Ser646=)
c.1950C>A (p.Ser650=)
c.2157C>A (p.Ser719=)
n.478+21840G>T
n.563+21840G>T
c.2175C>A (p.Ser725=)
4g.47936545G>ACA96687875CNGA1,NIPAL1c.1937C>T (p.Ser646Phe)
c.1949C>T (p.Ser650Phe)
c.2156C>T (p.Ser719Phe)
n.478+21841G>A
n.563+21841G>A
c.2174C>T (p.Ser725Phe)
 dbSNP
4g.47936545G>CCA356823138CNGA1,NIPAL1c.1937C>G (p.Ser646Cys)
c.1949C>G (p.Ser650Cys)
c.2156C>G (p.Ser719Cys)
n.478+21841G>C
n.563+21841G>C
c.2174C>G (p.Ser725Cys)
4g.47936545G=CA1455551619CNGA1,NIPAL1c.1937C= (p.Ser646=)
c.1949C= (p.Ser650=)
c.2156C= (p.Ser719=)
n.478+21841G=
n.563+21841G=
c.2174C= (p.Ser725=)
4g.47936545G>TCA356823139CNGA1,NIPAL1c.1937C>A (p.Ser646Tyr)
c.1949C>A (p.Ser650Tyr)
c.2156C>A (p.Ser719Tyr)
n.478+21841G>T
n.563+21841G>T
c.2174C>A (p.Ser725Tyr)
4g.47936546A>CCA356823141CNGA1,NIPAL1c.1936T>G (p.Ser646Ala)
c.1948T>G (p.Ser650Ala)
c.2155T>G (p.Ser719Ala)
n.478+21842A>C
n.563+21842A>C
c.2173T>G (p.Ser725Ala)
4g.47936546A>GCA356823142CNGA1,NIPAL1c.1936T>C (p.Ser646Pro)
c.1948T>C (p.Ser650Pro)
c.2155T>C (p.Ser719Pro)
n.478+21842A>G
n.563+21842A>G
c.2173T>C (p.Ser725Pro)
4g.47936546A>TCA356823140CNGA1,NIPAL1c.1936T>A (p.Ser646Thr)
c.1948T>A (p.Ser650Thr)
c.2155T>A (p.Ser719Thr)
n.478+21842A>T
n.563+21842A>T
c.2173T>A (p.Ser725Thr)
4g.47936547C>ACA356823144CNGA1,NIPAL1c.1935G>T (p.Glu645Asp)
c.1947G>T (p.Glu649Asp)
c.2154G>T (p.Glu718Asp)
n.478+21843C>A
n.563+21843C>A
c.2172G>T (p.Glu724Asp)
4g.47936547C=CA1455551620CNGA1,NIPAL1c.1935G= (p.Glu645=)
c.1947G= (p.Glu649=)
c.2154G= (p.Glu718=)
n.478+21843C=
n.563+21843C=
c.2172G= (p.Glu724=)
4g.47936547C>GCA356823143CNGA1,NIPAL1c.1935G>C (p.Glu645Asp)
c.1947G>C (p.Glu649Asp)
c.2154G>C (p.Glu718Asp)
n.478+21843C>G
n.563+21843C>G
c.2172G>C (p.Glu724Asp)
4g.47936547C>TCA2910989CNGA1,NIPAL1c.1935G>A (p.Glu645=)
c.1947G>A (p.Glu649=)
c.2154G>A (p.Glu718=)
n.478+21843C>T
n.563+21843C>T
c.2172G>A (p.Glu724=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.47936548T>ACA356823145CNGA1,NIPAL1c.1934A>T (p.Glu645Val)
c.1946A>T (p.Glu649Val)
c.2153A>T (p.Glu718Val)
n.478+21844T>A
n.563+21844T>A
c.2171A>T (p.Glu724Val)
4g.47936548T>CCA356823146CNGA1,NIPAL1c.1934A>G (p.Glu645Gly)
c.1946A>G (p.Glu649Gly)
c.2153A>G (p.Glu718Gly)
n.478+21844T>C
n.563+21844T>C
c.2171A>G (p.Glu724Gly)
4g.47936548T>GCA2910990CNGA1,NIPAL1c.1934A>C (p.Glu645Ala)
c.1946A>C (p.Glu649Ala)
c.2153A>C (p.Glu718Ala)
n.478+21844T>G
n.563+21844T>G
c.2171A>C (p.Glu724Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936548T=CA1455551621CNGA1,NIPAL1c.1934A= (p.Glu645=)
c.1946A= (p.Glu649=)
c.2153A= (p.Glu718=)
n.478+21844T=
n.563+21844T=
c.2171A= (p.Glu724=)
4g.47936549C>ACA356823149CNGA1,NIPAL1c.1933G>T (p.Glu645Ter)
c.1945G>T (p.Glu649Ter)
c.2152G>T (p.Glu718Ter)
n.478+21845C>A
n.563+21845C>A
c.2170G>T (p.Glu724Ter)
4g.47936549C>GCA356823148CNGA1,NIPAL1c.1933G>C (p.Glu645Gln)
c.1945G>C (p.Glu649Gln)
c.2152G>C (p.Glu718Gln)
n.478+21845C>G
n.563+21845C>G
c.2170G>C (p.Glu724Gln)
4g.47936549C>TCA356823147CNGA1,NIPAL1c.1933G>A (p.Glu645Lys)
c.1945G>A (p.Glu649Lys)
c.2152G>A (p.Glu718Lys)
n.478+21845C>T
n.563+21845C>T
c.2170G>A (p.Glu724Lys)
 gnomAD v4
4g.47936550A=CA1455551622CNGA1,NIPAL1c.1932T= (p.Tyr644=)
c.1944T= (p.Tyr648=)
c.2151T= (p.Tyr717=)
n.478+21846A=
n.563+21846A=
c.2169T= (p.Tyr723=)
4g.47936550A>CCA356823150CNGA1,NIPAL1c.1932T>G (p.Tyr644Ter)
c.1944T>G (p.Tyr648Ter)
c.2151T>G (p.Tyr717Ter)
n.478+21846A>C
n.563+21846A>C
c.2169T>G (p.Tyr723Ter)
4g.47936550A>GCA2910991CNGA1,NIPAL1c.1932T>C (p.Tyr644=)
c.1944T>C (p.Tyr648=)
c.2151T>C (p.Tyr717=)
n.478+21846A>G
n.563+21846A>G
c.2169T>C (p.Tyr723=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936550A>TCA356823151CNGA1,NIPAL1c.1932T>A (p.Tyr644Ter)
c.1944T>A (p.Tyr648Ter)
c.2151T>A (p.Tyr717Ter)
n.478+21846A>T
n.563+21846A>T
c.2169T>A (p.Tyr723Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47936551T>ACA356823152CNGA1,NIPAL1c.1931A>T (p.Tyr644Phe)
c.1943A>T (p.Tyr648Phe)
c.2150A>T (p.Tyr717Phe)
n.478+21847T>A
n.563+21847T>A
c.2168A>T (p.Tyr723Phe)
4g.47936551T>CCA356823153CNGA1,NIPAL1c.1931A>G (p.Tyr644Cys)
c.1943A>G (p.Tyr648Cys)
c.2150A>G (p.Tyr717Cys)
n.478+21847T>C
n.563+21847T>C
c.2168A>G (p.Tyr723Cys)
4g.47936551T>GCA356823154CNGA1,NIPAL1c.1931A>C (p.Tyr644Ser)
c.1943A>C (p.Tyr648Ser)
c.2150A>C (p.Tyr717Ser)
n.478+21847T>G
n.563+21847T>G
c.2168A>C (p.Tyr723Ser)
4g.47936552delCA439248181CNGA1,NIPAL1c.1930del (p.Tyr644MetfsTer8)
c.1942del (p.Tyr648MetfsTer8)
c.2149del (p.Tyr717MetfsTer8)
n.478+21848del
n.563+21848del
c.2167del (p.Tyr723MetfsTer8)
4g.47936552A=CA1455551623CNGA1,NIPAL1c.1930T= (p.Tyr644=)
c.1942T= (p.Tyr648=)
c.2149T= (p.Tyr717=)
n.478+21848A=
n.563+21848A=
c.2167T= (p.Tyr723=)
4g.47936552A>CCA356823155CNGA1,NIPAL1c.1930T>G (p.Tyr644Asp)
c.1942T>G (p.Tyr648Asp)
c.2149T>G (p.Tyr717Asp)
n.478+21848A>C
n.563+21848A>C
c.2167T>G (p.Tyr723Asp)
4g.47936552A>GCA2910992CNGA1,NIPAL1c.1930T>C (p.Tyr644His)
c.1942T>C (p.Tyr648His)
c.2149T>C (p.Tyr717His)
n.478+21848A>G
n.563+21848A>G
c.2167T>C (p.Tyr723His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936552A>TCA2910993CNGA1,NIPAL1c.1930T>A (p.Tyr644Asn)
c.1942T>A (p.Tyr648Asn)
c.2149T>A (p.Tyr717Asn)
n.478+21848A>T
n.563+21848A>T
c.2167T>A (p.Tyr723Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936553C>ACA356823156CNGA1,NIPAL1c.1929G>T (p.Glu643Asp)
c.1941G>T (p.Glu647Asp)
c.2148G>T (p.Glu716Asp)
n.478+21849C>A
n.563+21849C>A
c.2166G>T (p.Glu722Asp)
4g.47936553C>GCA356823157CNGA1,NIPAL1c.1929G>C (p.Glu643Asp)
c.1941G>C (p.Glu647Asp)
c.2148G>C (p.Glu716Asp)
n.478+21849C>G
n.563+21849C>G
c.2166G>C (p.Glu722Asp)
4g.47936553C>TCA439248183CNGA1,NIPAL1c.1929G>A (p.Glu643=)
c.1941G>A (p.Glu647=)
c.2148G>A (p.Glu716=)
n.478+21849C>T
n.563+21849C>T
c.2166G>A (p.Glu722=)
4g.47936554T>ACA356823158CNGA1,NIPAL1c.1928A>T (p.Glu643Val)
c.1940A>T (p.Glu647Val)
c.2147A>T (p.Glu716Val)
n.478+21850T>A
n.563+21850T>A
c.2165A>T (p.Glu722Val)
4g.47936554T>CCA356823159CNGA1,NIPAL1c.1928A>G (p.Glu643Gly)
c.1940A>G (p.Glu647Gly)
c.2147A>G (p.Glu716Gly)
n.478+21850T>C
n.563+21850T>C
c.2165A>G (p.Glu722Gly)
 gnomAD v4
4g.47936554T>GCA356823160CNGA1,NIPAL1c.1928A>C (p.Glu643Ala)
c.1940A>C (p.Glu647Ala)
c.2147A>C (p.Glu716Ala)
n.478+21850T>G
n.563+21850T>G
c.2165A>C (p.Glu722Ala)
4g.47936555C>ACA356823161CNGA1,NIPAL1c.1927G>T (p.Glu643Ter)
c.1939G>T (p.Glu647Ter)
c.2146G>T (p.Glu716Ter)
n.478+21851C>A
n.563+21851C>A
c.2164G>T (p.Glu722Ter)
4g.47936555C>GCA356823162CNGA1,NIPAL1c.1927G>C (p.Glu643Gln)
c.1939G>C (p.Glu647Gln)
c.2146G>C (p.Glu716Gln)
n.478+21851C>G
n.563+21851C>G
c.2164G>C (p.Glu722Gln)
4g.47936555C>TCA356823163CNGA1,NIPAL1c.1927G>A (p.Glu643Lys)
c.1939G>A (p.Glu647Lys)
c.2146G>A (p.Glu716Lys)
n.478+21851C>T
n.563+21851C>T
c.2164G>A (p.Glu722Lys)
4g.47936556A>CCA439248186CNGA1,NIPAL1c.1926T>G (p.Ala642=)
c.1938T>G (p.Ala646=)
c.2145T>G (p.Ala715=)
n.478+21852A>C
n.563+21852A>C
c.2163T>G (p.Ala721=)
4g.47936556A>GCA439248187CNGA1,NIPAL1c.1926T>C (p.Ala642=)
c.1938T>C (p.Ala646=)
c.2145T>C (p.Ala715=)
n.478+21852A>G
n.563+21852A>G
c.2163T>C (p.Ala721=)
4g.47936556A>TCA439248189CNGA1,NIPAL1c.1926T>A (p.Ala642=)
c.1938T>A (p.Ala646=)
c.2145T>A (p.Ala715=)
n.478+21852A>T
n.563+21852A>T
c.2163T>A (p.Ala721=)

Number of alleles fetched