Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.47936371G>ACA96687549CNGA1,NIPAL1c.*50C>T (n.*50C>T)
n.478+21667G>A
n.563+21667G>A
c.2330C>T (n.2330C>T)
 dbSNP
4g.47936371G>CCA1455551549CNGA1,NIPAL1c.*50C>G (n.*50C>G)
n.478+21667G>C
n.563+21667G>C
c.2330C>G (n.2330C>G)
 dbSNP gnomAD v4
4g.47936371G=CA1455551550CNGA1,NIPAL1c.*50C= (n.*50C=)
n.478+21667G=
n.563+21667G=
c.2330C= (n.2330C=)
4g.47936371G>TCA2578081531CNGA1,NIPAL1c.*50C>A (n.*50C>A)
n.478+21667G>T
n.563+21667G>T
c.2330C>A (n.2330C>A)
4g.47936378A>GCA2670552318CNGA1,NIPAL1c.*43T>C (n.*43T>C)
n.478+21674A>G
n.563+21674A>G
c.2323T>C (n.2323T>C)
 gnomAD v4
4g.47936379G>ACA2670552319CNGA1,NIPAL1c.*42C>T (n.*42C>T)
n.478+21675G>A
n.563+21675G>A
c.2322C>T (n.2322C>T)
 gnomAD v4
4g.47936379G>TCA2670552320CNGA1,NIPAL1c.*42C>A (n.*42C>A)
n.478+21675G>T
n.563+21675G>T
c.2322C>A (n.2322C>A)
 gnomAD v4
4g.47936380G>TCA2670552321CNGA1,NIPAL1c.*41C>A (n.*41C>A)
n.478+21676G>T
n.563+21676G>T
c.2321C>A (n.2321C>A)
 gnomAD v4
4g.47936383C>ACA2578081532CNGA1,NIPAL1c.*38G>T (n.*38G>T)
n.478+21679C>A
n.563+21679C>A
c.2318G>T (n.2318G>T)
4g.47936384A>GCA2670552322CNGA1,NIPAL1c.*37T>C (n.*37T>C)
n.478+21680A>G
n.563+21680A>G
c.2317T>C (n.2317T>C)
 gnomAD v4
4g.47936385T>CCA1455551552CNGA1,NIPAL1c.*36A>G (n.*36A>G)
n.478+21681T>C
n.563+21681T>C
c.2316A>G (n.2316A>G)
 dbSNP gnomAD v4
4g.47936385T=CA1455551551CNGA1,NIPAL1c.*36A= (n.*36A=)
n.478+21681T=
n.563+21681T=
c.2316A= (n.2316A=)
4g.47936386G>ACA2910960CNGA1,NIPAL1c.*35C>T (n.*35C>T)
n.478+21682G>A
n.563+21682G>A
c.2315C>T (n.2315C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936386G=CA1455551553CNGA1,NIPAL1c.*35C= (n.*35C=)
n.478+21682G=
n.563+21682G=
c.2315C= (n.2315C=)
4g.47936386G>TCA2670552323CNGA1,NIPAL1c.*35C>A (n.*35C>A)
n.478+21682G>T
n.563+21682G>T
c.2315C>A (n.2315C>A)
 gnomAD v4
4g.47936388G>ACA2670552324CNGA1,NIPAL1c.*33C>T (n.*33C>T)
n.478+21684G>A
n.563+21684G>A
c.2313C>T (n.2313C>T)
 gnomAD v4
4g.47936388G=CA1455551554CNGA1,NIPAL1c.*33C= (n.*33C=)
n.478+21684G=
n.563+21684G=
c.2313C= (n.2313C=)
4g.47936388G>TCA551650447CNGA1,NIPAL1c.*33C>A (n.*33C>A)
n.478+21684G>T
n.563+21684G>T
c.2313C>A (n.2313C>A)
 dbSNP gnomAD v2 gnomAD v4
4g.47936389G>TCA2670552325CNGA1,NIPAL1c.*32C>A (n.*32C>A)
n.478+21685G>T
n.563+21685G>T
c.2312C>A (n.2312C>A)
 gnomAD v4
4g.47936390C=CA1455551555CNGA1,NIPAL1c.*31G= (n.*31G=)
n.478+21686C=
n.563+21686C=
c.2311G= (n.2311G=)
4g.47936390C>TCA2910961CNGA1,NIPAL1c.*31G>A (n.*31G>A)
n.478+21686C>T
n.563+21686C>T
c.2311G>A (n.2311G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936391A=CA1455551556CNGA1,NIPAL1c.*30T= (n.*30T=)
n.478+21687A=
n.563+21687A=
c.2310T= (n.2310T=)
4g.47936391A>GCA2670552326CNGA1,NIPAL1c.*30T>C (n.*30T>C)
n.478+21687A>G
n.563+21687A>G
c.2310T>C (n.2310T>C)
 gnomAD v4
4g.47936391A>TCA1455551557CNGA1,NIPAL1c.*30T>A (n.*30T>A)
n.478+21687A>T
n.563+21687A>T
c.2310T>A (n.2310T>A)
 dbSNP
4g.47936392T>CCA1455551559CNGA1,NIPAL1c.*29A>G (n.*29A>G)
n.478+21688T>C
n.563+21688T>C
c.2309A>G (n.2309A>G)
 dbSNP gnomAD v4
4g.47936392T=CA1455551558CNGA1,NIPAL1c.*29A= (n.*29A=)
n.478+21688T=
n.563+21688T=
c.2309A= (n.2309A=)
4g.47936393G>TCA2670552327CNGA1,NIPAL1c.*28C>A (n.*28C>A)
n.478+21689G>T
n.563+21689G>T
c.2308C>A (n.2308C>A)
 gnomAD v4
4g.47936394T>ACA2670552328CNGA1,NIPAL1c.*27A>T (n.*27A>T)
n.478+21690T>A
n.563+21690T>A
c.2307A>T (n.2307A>T)
 gnomAD v4
4g.47936394T>CCA2670552329CNGA1,NIPAL1c.*27A>G (n.*27A>G)
n.478+21690T>C
n.563+21690T>C
c.2307A>G (n.2307A>G)
 gnomAD v4
4g.47936394T>GCA2578081533CNGA1,NIPAL1c.*27A>C (n.*27A>C)
n.478+21690T>G
n.563+21690T>G
c.2307A>C (n.2307A>C)
4g.47936395C>TCA2670552330CNGA1,NIPAL1c.*26G>A (n.*26G>A)
n.478+21691C>T
n.563+21691C>T
c.2306G>A (n.2306G>A)
 gnomAD v4
4g.47936396C>TCA2670552331CNGA1,NIPAL1c.*25G>A (n.*25G>A)
n.478+21692C>T
n.563+21692C>T
c.2305G>A (n.2305G>A)
 gnomAD v4
4g.47936398T>CCA2670552332CNGA1,NIPAL1c.*23A>G (n.*23A>G)
n.478+21694T>C
n.563+21694T>C
c.2303A>G (n.2303A>G)
 gnomAD v4
4g.47936399G>CCA2670552334CNGA1,NIPAL1c.*22C>G (n.*22C>G)
n.478+21695G>C
n.563+21695G>C
c.2302C>G (n.2302C>G)
 gnomAD v4
4g.47936399G>TCA2670552333CNGA1,NIPAL1c.*22C>A (n.*22C>A)
n.478+21695G>T
n.563+21695G>T
c.2302C>A (n.2302C>A)
 gnomAD v4
4g.47936401T>CCA2578081534CNGA1,NIPAL1c.*20A>G (n.*20A>G)
n.478+21697T>C
n.563+21697T>C
c.2300A>G (n.2300A>G)
4g.47936402A=CA1455551560CNGA1,NIPAL1c.*19T= (n.*19T=)
n.478+21698A=
n.563+21698A=
c.2299T= (n.2299T=)
4g.47936402A>GCA551650448CNGA1,NIPAL1c.*19T>C (n.*19T>C)
n.478+21698A>G
n.563+21698A>G
c.2299T>C (n.2299T>C)
 dbSNP gnomAD v2 gnomAD v4
4g.47936403A=CA1455551561CNGA1,NIPAL1c.*18T= (n.*18T=)
n.478+21699A=
n.563+21699A=
c.2298T= (n.2298T=)
4g.47936403A>GCA2910962CNGA1,NIPAL1c.*18T>C (n.*18T>C)
n.478+21699A>G
n.563+21699A>G
c.2298T>C (n.2298T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936404T>CCA96687582CNGA1,NIPAL1c.*17A>G (n.*17A>G)
n.478+21700T>C
n.563+21700T>C
c.2297A>G (n.2297A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47936404T=CA1455551562CNGA1,NIPAL1c.*17A= (n.*17A=)
n.478+21700T=
n.563+21700T=
c.2297A= (n.2297A=)
4g.47936405G>TCA2670552335CNGA1,NIPAL1c.*16C>A (n.*16C>A)
n.478+21701G>T
n.563+21701G>T
c.2296C>A (n.2296C>A)
 gnomAD v4
4g.47936406A=CA1455551563CNGA1,NIPAL1c.*15T= (n.*15T=)
n.478+21702A=
n.563+21702A=
c.2295T= (n.2295T=)
4g.47936406A>CCA551650449CNGA1,NIPAL1c.*15T>G (n.*15T>G)
n.478+21702A>C
n.563+21702A>C
c.2295T>G (n.2295T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47936407C=CA1455551564CNGA1,NIPAL1c.*14G= (n.*14G=)
n.478+21703C=
n.563+21703C=
c.2294G= (n.2294G=)
4g.47936407C>TCA551650450CNGA1,NIPAL1c.*14G>A (n.*14G>A)
n.478+21703C>T
n.563+21703C>T
c.2294G>A (n.2294G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.47936409A>CCA2670552336CNGA1,NIPAL1c.*12T>G (n.*12T>G)
n.478+21705A>C
n.563+21705A>C
c.2292T>G (n.2292T>G)
 gnomAD v4
4g.47936410G>ACA551650451CNGA1,NIPAL1c.*11C>T (n.*11C>T)
n.478+21706G>A
n.563+21706G>A
c.2291C>T (n.2291C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.47936410G>CCA2670552337CNGA1,NIPAL1c.*11C>G (n.*11C>G)
n.478+21706G>C
n.563+21706G>C
c.2291C>G (n.2291C>G)
 gnomAD v4
4g.47936410G=CA1455551565CNGA1,NIPAL1c.*11C= (n.*11C=)
n.478+21706G=
n.563+21706G=
c.2291C= (n.2291C=)
4g.47936411delCA2578081536CNGA1,NIPAL1c.*10del (n.*10del)
n.478+21707del
n.563+21707del
c.2290del (n.2290del)
 gnomAD v4
4g.47936411C>ACA2578081535CNGA1,NIPAL1c.*10G>T (n.*10G>T)
n.478+21707C>A
n.563+21707C>A
c.2290G>T (n.2290G>T)
 gnomAD v4
4g.47936411C=CA1455551566CNGA1,NIPAL1c.*10G= (n.*10G=)
n.478+21707C=
n.563+21707C=
c.2290G= (n.2290G=)
4g.47936411C>TCA2910963CNGA1,NIPAL1c.*10G>A (n.*10G>A)
n.478+21707C>T
n.563+21707C>T
c.2290G>A (n.2290G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936412T>GCA795526392CNGA1,NIPAL1c.*9A>C (n.*9A>C)
n.478+21708T>G
n.563+21708T>G
c.2289A>C (n.2289A>C)
 dbSNP gnomAD v3 gnomAD v4
4g.47936412T=CA1455551567CNGA1,NIPAL1c.*9A= (n.*9A=)
n.478+21708T=
n.563+21708T=
c.2289A= (n.2289A=)
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)

Number of alleles fetched