Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37064864A>CCA359523797CPLANE1,NIPBLc.8387A>C (p.Tyr2796Ser)
c.*331A>C (n.*331A>C)
n.2310A>C
c.287A>C (p.Tyr96Ser)
c.*841A>C (n.*841A>C)
c.7643A>C (p.Tyr2548Ser)
c.8240A>C (p.Tyr2747Ser)
c.8189A>C (p.Tyr2730Ser)
c.8006A>C (p.Tyr2669Ser)
c.7727A>C (p.Tyr2576Ser)
c.6770A>C (p.Tyr2257Ser)
c.6761A>C (p.Tyr2254Ser)
n.11818T>G
5g.37064864A>GCA359523798CPLANE1,NIPBLc.8387A>G (p.Tyr2796Cys)
c.*331A>G (n.*331A>G)
n.2310A>G
c.287A>G (p.Tyr96Cys)
c.*841A>G (n.*841A>G)
c.7643A>G (p.Tyr2548Cys)
c.8240A>G (p.Tyr2747Cys)
c.8189A>G (p.Tyr2730Cys)
c.8006A>G (p.Tyr2669Cys)
c.7727A>G (p.Tyr2576Cys)
c.6770A>G (p.Tyr2257Cys)
c.6761A>G (p.Tyr2254Cys)
n.11818T>C
5g.37064864A>TCA359523802CPLANE1,NIPBLc.8387A>T (p.Tyr2796Phe)
c.*331A>T (n.*331A>T)
n.2310A>T
c.287A>T (p.Tyr96Phe)
c.*841A>T (n.*841A>T)
c.7643A>T (p.Tyr2548Phe)
c.8240A>T (p.Tyr2747Phe)
c.8189A>T (p.Tyr2730Phe)
c.8006A>T (p.Tyr2669Phe)
c.7727A>T (p.Tyr2576Phe)
c.6770A>T (p.Tyr2257Phe)
c.6761A>T (p.Tyr2254Phe)
n.11818T>A
5g.37064865T>ACA359523808CPLANE1,NIPBLc.8388T>A (p.Tyr2796Ter)
c.*332T>A (n.*332T>A)
n.2311T>A
c.288T>A (p.Tyr96Ter)
c.*842T>A (n.*842T>A)
c.7644T>A (p.Tyr2548Ter)
c.8241T>A (p.Tyr2747Ter)
c.8190T>A (p.Tyr2730Ter)
c.8007T>A (p.Tyr2669Ter)
c.7728T>A (p.Tyr2576Ter)
c.6771T>A (p.Tyr2257Ter)
c.6762T>A (p.Tyr2254Ter)
n.11817A>T
5g.37064865T>CCA444096687CPLANE1,NIPBLc.8388T>C (p.Tyr2796=)
c.*332T>C (n.*332T>C)
n.2311T>C
c.288T>C (p.Tyr96=)
c.*842T>C (n.*842T>C)
c.7644T>C (p.Tyr2548=)
c.8241T>C (p.Tyr2747=)
c.8190T>C (p.Tyr2730=)
c.8007T>C (p.Tyr2669=)
c.7728T>C (p.Tyr2576=)
c.6771T>C (p.Tyr2257=)
c.6762T>C (p.Tyr2254=)
n.11817A>G
5g.37064865T>GCA359523811CPLANE1,NIPBLc.8388T>G (p.Tyr2796Ter)
c.*332T>G (n.*332T>G)
n.2311T>G
c.288T>G (p.Tyr96Ter)
c.*842T>G (n.*842T>G)
c.7644T>G (p.Tyr2548Ter)
c.8241T>G (p.Tyr2747Ter)
c.8190T>G (p.Tyr2730Ter)
c.8007T>G (p.Tyr2669Ter)
c.7728T>G (p.Tyr2576Ter)
c.6771T>G (p.Tyr2257Ter)
c.6762T>G (p.Tyr2254Ter)
n.11817A>C
5g.37064866G>ACA359523825CPLANE1,NIPBLc.8389G>A (p.Ala2797Thr)
c.*333G>A (n.*333G>A)
n.2312G>A
c.289G>A (p.Ala97Thr)
c.*843G>A (n.*843G>A)
c.7645G>A (p.Ala2549Thr)
c.8242G>A (p.Ala2748Thr)
c.8191G>A (p.Ala2731Thr)
c.8008G>A (p.Ala2670Thr)
c.7729G>A (p.Ala2577Thr)
c.6772G>A (p.Ala2258Thr)
c.6763G>A (p.Ala2255Thr)
n.11816C>T
5g.37064866G>CCA359523819CPLANE1,NIPBLc.8389G>C (p.Ala2797Pro)
c.*333G>C (n.*333G>C)
n.2312G>C
c.289G>C (p.Ala97Pro)
c.*843G>C (n.*843G>C)
c.7645G>C (p.Ala2549Pro)
c.8242G>C (p.Ala2748Pro)
c.8191G>C (p.Ala2731Pro)
c.8008G>C (p.Ala2670Pro)
c.7729G>C (p.Ala2577Pro)
c.6772G>C (p.Ala2258Pro)
c.6763G>C (p.Ala2255Pro)
n.11816C>G
5g.37064866G>TCA359523816CPLANE1,NIPBLc.8389G>T (p.Ala2797Ser)
c.*333G>T (n.*333G>T)
n.2312G>T
c.289G>T (p.Ala97Ser)
c.*843G>T (n.*843G>T)
c.7645G>T (p.Ala2549Ser)
c.8242G>T (p.Ala2748Ser)
c.8191G>T (p.Ala2731Ser)
c.8008G>T (p.Ala2670Ser)
c.7729G>T (p.Ala2577Ser)
c.6772G>T (p.Ala2258Ser)
c.6763G>T (p.Ala2255Ser)
n.11816C>A
5g.37064867C>ACA359523828CPLANE1,NIPBLc.8390C>A (p.Ala2797Asp)
c.*334C>A (n.*334C>A)
n.2313C>A
c.290C>A (p.Ala97Asp)
c.*844C>A (n.*844C>A)
c.7646C>A (p.Ala2549Asp)
c.8243C>A (p.Ala2748Asp)
c.8192C>A (p.Ala2731Asp)
c.8009C>A (p.Ala2670Asp)
c.7730C>A (p.Ala2577Asp)
c.6773C>A (p.Ala2258Asp)
c.6764C>A (p.Ala2255Asp)
n.11815G>T
5g.37064867C=CA1539590808CPLANE1,NIPBLc.8390C= (p.Ala2797=)
c.*334C= (n.*334C=)
n.2313C=
c.290C= (p.Ala97=)
c.*844C= (n.*844C=)
c.7646C= (p.Ala2549=)
c.8243C= (p.Ala2748=)
c.8192C= (p.Ala2731=)
c.8009C= (p.Ala2670=)
c.7730C= (p.Ala2577=)
c.6773C= (p.Ala2258=)
c.6764C= (p.Ala2255=)
n.11815G=
5g.37064867C>GCA359523832CPLANE1,NIPBLc.8390C>G (p.Ala2797Gly)
c.*334C>G (n.*334C>G)
n.2313C>G
c.290C>G (p.Ala97Gly)
c.*844C>G (n.*844C>G)
c.7646C>G (p.Ala2549Gly)
c.8243C>G (p.Ala2748Gly)
c.8192C>G (p.Ala2731Gly)
c.8009C>G (p.Ala2670Gly)
c.7730C>G (p.Ala2577Gly)
c.6773C>G (p.Ala2258Gly)
c.6764C>G (p.Ala2255Gly)
n.11815G>C
5g.37064867C>TCA117059091CPLANE1,NIPBLc.8390C>T (p.Ala2797Val)
c.*334C>T (n.*334C>T)
n.2313C>T
c.290C>T (p.Ala97Val)
c.*844C>T (n.*844C>T)
c.7646C>T (p.Ala2549Val)
c.8243C>T (p.Ala2748Val)
c.8192C>T (p.Ala2731Val)
c.8009C>T (p.Ala2670Val)
c.7730C>T (p.Ala2577Val)
c.6773C>T (p.Ala2258Val)
c.6764C>T (p.Ala2255Val)
n.11815G>A
 dbSNP COSMIC
5g.37064867_37064873delCA2573139633CPLANE1,NIPBLc.8390_8396del (p.Ala2797GlyfsTer26)
c.*334_*340del (n.*334_*340del)
n.2313_2319del
c.290_296del (p.Ala97GlyfsTer26)
c.*844_*850del (n.*844_*850del)
c.7646_7652del (p.Ala2549GlyfsTer26)
c.8243_8249del (p.Ala2748GlyfsTer26)
c.8192_8198del (p.Ala2731GlyfsTer26)
c.8009_8015del (p.Ala2670GlyfsTer26)
c.7730_7736del (p.Ala2577GlyfsTer26)
c.6773_6779del (p.Ala2258GlyfsTer26)
c.6764_6770del (p.Ala2255GlyfsTer26)
n.11809_11815del
 ClinVar dbSNP
5g.37064868C>ACA444096692CPLANE1,NIPBLc.8391C>A (p.Ala2797=)
c.*335C>A (n.*335C>A)
n.2314C>A
c.291C>A (p.Ala97=)
c.*845C>A (n.*845C>A)
c.7647C>A (p.Ala2549=)
c.8244C>A (p.Ala2748=)
c.8193C>A (p.Ala2731=)
c.8010C>A (p.Ala2670=)
c.7731C>A (p.Ala2577=)
c.6774C>A (p.Ala2258=)
c.6765C>A (p.Ala2255=)
n.11814G>T
5g.37064868C=CA1539590815CPLANE1,NIPBLc.8391C= (p.Ala2797=)
c.*335C= (n.*335C=)
n.2314C=
c.291C= (p.Ala97=)
c.*845C= (n.*845C=)
c.7647C= (p.Ala2549=)
c.8244C= (p.Ala2748=)
c.8193C= (p.Ala2731=)
c.8010C= (p.Ala2670=)
c.7731C= (p.Ala2577=)
c.6774C= (p.Ala2258=)
c.6765C= (p.Ala2255=)
n.11814G=
5g.37064868C>GCA444096693CPLANE1,NIPBLc.8391C>G (p.Ala2797=)
c.*335C>G (n.*335C>G)
n.2314C>G
c.291C>G (p.Ala97=)
c.*845C>G (n.*845C>G)
c.7647C>G (p.Ala2549=)
c.8244C>G (p.Ala2748=)
c.8193C>G (p.Ala2731=)
c.8010C>G (p.Ala2670=)
c.7731C>G (p.Ala2577=)
c.6774C>G (p.Ala2258=)
c.6765C>G (p.Ala2255=)
n.11814G>C
5g.37064868C>TCA117059094CPLANE1,NIPBLc.8391C>T (p.Ala2797=)
c.*335C>T (n.*335C>T)
n.2314C>T
c.291C>T (p.Ala97=)
c.*845C>T (n.*845C>T)
c.7647C>T (p.Ala2549=)
c.8244C>T (p.Ala2748=)
c.8193C>T (p.Ala2731=)
c.8010C>T (p.Ala2670=)
c.7731C>T (p.Ala2577=)
c.6774C>T (p.Ala2258=)
c.6765C>T (p.Ala2255=)
n.11814G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.37064869G>ACA117059099CPLANE1,NIPBLc.8392G>A (p.Ala2798Thr)
c.*336G>A (n.*336G>A)
n.2315G>A
c.292G>A (p.Ala98Thr)
c.*846G>A (n.*846G>A)
c.7648G>A (p.Ala2550Thr)
c.8245G>A (p.Ala2749Thr)
c.8194G>A (p.Ala2732Thr)
c.8011G>A (p.Ala2671Thr)
c.7732G>A (p.Ala2578Thr)
c.6775G>A (p.Ala2259Thr)
c.6766G>A (p.Ala2256Thr)
n.11813C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.37064869G>CCA359523841CPLANE1,NIPBLc.8392G>C (p.Ala2798Pro)
c.*336G>C (n.*336G>C)
n.2315G>C
c.292G>C (p.Ala98Pro)
c.*846G>C (n.*846G>C)
c.7648G>C (p.Ala2550Pro)
c.8245G>C (p.Ala2749Pro)
c.8194G>C (p.Ala2732Pro)
c.8011G>C (p.Ala2671Pro)
c.7732G>C (p.Ala2578Pro)
c.6775G>C (p.Ala2259Pro)
c.6766G>C (p.Ala2256Pro)
n.11813C>G
5g.37064869G=CA1539590823CPLANE1,NIPBLc.8392G= (p.Ala2798=)
c.*336G= (n.*336G=)
n.2315G=
c.292G= (p.Ala98=)
c.*846G= (n.*846G=)
c.7648G= (p.Ala2550=)
c.8245G= (p.Ala2749=)
c.8194G= (p.Ala2732=)
c.8011G= (p.Ala2671=)
c.7732G= (p.Ala2578=)
c.6775G= (p.Ala2259=)
c.6766G= (p.Ala2256=)
n.11813C=
5g.37064869G>TCA359523844CPLANE1,NIPBLc.8392G>T (p.Ala2798Ser)
c.*336G>T (n.*336G>T)
n.2315G>T
c.292G>T (p.Ala98Ser)
c.*846G>T (n.*846G>T)
c.7648G>T (p.Ala2550Ser)
c.8245G>T (p.Ala2749Ser)
c.8194G>T (p.Ala2732Ser)
c.8011G>T (p.Ala2671Ser)
c.7732G>T (p.Ala2578Ser)
c.6775G>T (p.Ala2259Ser)
c.6766G>T (p.Ala2256Ser)
n.11813C>A
5g.37064870C>ACA359523845CPLANE1,NIPBLc.8393C>A (p.Ala2798Asp)
c.*337C>A (n.*337C>A)
n.2316C>A
c.293C>A (p.Ala98Asp)
c.*847C>A (n.*847C>A)
c.7649C>A (p.Ala2550Asp)
c.8246C>A (p.Ala2749Asp)
c.8195C>A (p.Ala2732Asp)
c.8012C>A (p.Ala2671Asp)
c.7733C>A (p.Ala2578Asp)
c.6776C>A (p.Ala2259Asp)
c.6767C>A (p.Ala2256Asp)
n.11812G>T
5g.37064870C>GCA359523846CPLANE1,NIPBLc.8393C>G (p.Ala2798Gly)
c.*337C>G (n.*337C>G)
n.2316C>G
c.293C>G (p.Ala98Gly)
c.*847C>G (n.*847C>G)
c.7649C>G (p.Ala2550Gly)
c.8246C>G (p.Ala2749Gly)
c.8195C>G (p.Ala2732Gly)
c.8012C>G (p.Ala2671Gly)
c.7733C>G (p.Ala2578Gly)
c.6776C>G (p.Ala2259Gly)
c.6767C>G (p.Ala2256Gly)
n.11812G>C
5g.37064870C>TCA359523847CPLANE1,NIPBLc.8393C>T (p.Ala2798Val)
c.*337C>T (n.*337C>T)
n.2316C>T
c.293C>T (p.Ala98Val)
c.*847C>T (n.*847C>T)
c.7649C>T (p.Ala2550Val)
c.8246C>T (p.Ala2749Val)
c.8195C>T (p.Ala2732Val)
c.8012C>T (p.Ala2671Val)
c.7733C>T (p.Ala2578Val)
c.6776C>T (p.Ala2259Val)
c.6767C>T (p.Ala2256Val)
n.11812G>A
5g.37064871C>ACA444096696CPLANE1,NIPBLc.8394C>A (p.Ala2798=)
c.*338C>A (n.*338C>A)
n.2317C>A
c.294C>A (p.Ala98=)
c.*848C>A (n.*848C>A)
c.7650C>A (p.Ala2550=)
c.8247C>A (p.Ala2749=)
c.8196C>A (p.Ala2732=)
c.8013C>A (p.Ala2671=)
c.7734C>A (p.Ala2578=)
c.6777C>A (p.Ala2259=)
c.6768C>A (p.Ala2256=)
n.11811G>T
5g.37064871C>GCA444096699CPLANE1,NIPBLc.8394C>G (p.Ala2798=)
c.*338C>G (n.*338C>G)
n.2317C>G
c.294C>G (p.Ala98=)
c.*848C>G (n.*848C>G)
c.7650C>G (p.Ala2550=)
c.8247C>G (p.Ala2749=)
c.8196C>G (p.Ala2732=)
c.8013C>G (p.Ala2671=)
c.7734C>G (p.Ala2578=)
c.6777C>G (p.Ala2259=)
c.6768C>G (p.Ala2256=)
n.11811G>C
5g.37064871C>TCA444096695CPLANE1,NIPBLc.8394C>T (p.Ala2798=)
c.*338C>T (n.*338C>T)
n.2317C>T
c.294C>T (p.Ala98=)
c.*848C>T (n.*848C>T)
c.7650C>T (p.Ala2550=)
c.8247C>T (p.Ala2749=)
c.8196C>T (p.Ala2732=)
c.8013C>T (p.Ala2671=)
c.7734C>T (p.Ala2578=)
c.6777C>T (p.Ala2259=)
c.6768C>T (p.Ala2256=)
n.11811G>A
5g.37064872A>CCA359523849CPLANE1,NIPBLc.8395A>C (p.Lys2799Gln)
c.*339A>C (n.*339A>C)
n.2318A>C
c.295A>C (p.Lys99Gln)
c.*849A>C (n.*849A>C)
c.7651A>C (p.Lys2551Gln)
c.8248A>C (p.Lys2750Gln)
c.8197A>C (p.Lys2733Gln)
c.8014A>C (p.Lys2672Gln)
c.7735A>C (p.Lys2579Gln)
c.6778A>C (p.Lys2260Gln)
c.6769A>C (p.Lys2257Gln)
n.11810T>G
5g.37064872A>GCA359523852CPLANE1,NIPBLc.8395A>G (p.Lys2799Glu)
c.*339A>G (n.*339A>G)
n.2318A>G
c.295A>G (p.Lys99Glu)
c.*849A>G (n.*849A>G)
c.7651A>G (p.Lys2551Glu)
c.8248A>G (p.Lys2750Glu)
c.8197A>G (p.Lys2733Glu)
c.8014A>G (p.Lys2672Glu)
c.7735A>G (p.Lys2579Glu)
c.6778A>G (p.Lys2260Glu)
c.6769A>G (p.Lys2257Glu)
n.11810T>C
5g.37064872A>TCA359523855CPLANE1,NIPBLc.8395A>T (p.Lys2799Ter)
c.*339A>T (n.*339A>T)
n.2318A>T
c.295A>T (p.Lys99Ter)
c.*849A>T (n.*849A>T)
c.7651A>T (p.Lys2551Ter)
c.8248A>T (p.Lys2750Ter)
c.8197A>T (p.Lys2733Ter)
c.8014A>T (p.Lys2672Ter)
c.7735A>T (p.Lys2579Ter)
c.6778A>T (p.Lys2260Ter)
c.6769A>T (p.Lys2257Ter)
n.11810T>A
5g.37064873A>CCA359523876CPLANE1,NIPBLc.8396A>C (p.Lys2799Thr)
c.*340A>C (n.*340A>C)
n.2319A>C
c.296A>C (p.Lys99Thr)
c.*850A>C (n.*850A>C)
c.7652A>C (p.Lys2551Thr)
c.8249A>C (p.Lys2750Thr)
c.8198A>C (p.Lys2733Thr)
c.8015A>C (p.Lys2672Thr)
c.7736A>C (p.Lys2579Thr)
c.6779A>C (p.Lys2260Thr)
c.6770A>C (p.Lys2257Thr)
n.11809T>G
5g.37064873A>GCA359523872CPLANE1,NIPBLc.8396A>G (p.Lys2799Arg)
c.*340A>G (n.*340A>G)
n.2319A>G
c.296A>G (p.Lys99Arg)
c.*850A>G (n.*850A>G)
c.7652A>G (p.Lys2551Arg)
c.8249A>G (p.Lys2750Arg)
c.8198A>G (p.Lys2733Arg)
c.8015A>G (p.Lys2672Arg)
c.7736A>G (p.Lys2579Arg)
c.6779A>G (p.Lys2260Arg)
c.6770A>G (p.Lys2257Arg)
n.11809T>C
 gnomAD v4
5g.37064873A>TCA359523861CPLANE1,NIPBLc.8396A>T (p.Lys2799Met)
c.*340A>T (n.*340A>T)
n.2319A>T
c.296A>T (p.Lys99Met)
c.*850A>T (n.*850A>T)
c.7652A>T (p.Lys2551Met)
c.8249A>T (p.Lys2750Met)
c.8198A>T (p.Lys2733Met)
c.8015A>T (p.Lys2672Met)
c.7736A>T (p.Lys2579Met)
c.6779A>T (p.Lys2260Met)
c.6770A>T (p.Lys2257Met)
n.11809T>A
5g.37064874G>ACA444096702CPLANE1,NIPBLc.8397G>A (p.Lys2799=)
c.*341G>A (n.*341G>A)
n.2320G>A
c.297G>A (p.Lys99=)
c.*851G>A (n.*851G>A)
c.7653G>A (p.Lys2551=)
c.8250G>A (p.Lys2750=)
c.8199G>A (p.Lys2733=)
c.8016G>A (p.Lys2672=)
c.7737G>A (p.Lys2579=)
c.6780G>A (p.Lys2260=)
c.6771G>A (p.Lys2257=)
n.11808C>T
5g.37064874G>CCA359523882CPLANE1,NIPBLc.8397G>C (p.Lys2799Asn)
c.*341G>C (n.*341G>C)
n.2320G>C
c.297G>C (p.Lys99Asn)
c.*851G>C (n.*851G>C)
c.7653G>C (p.Lys2551Asn)
c.8250G>C (p.Lys2750Asn)
c.8199G>C (p.Lys2733Asn)
c.8016G>C (p.Lys2672Asn)
c.7737G>C (p.Lys2579Asn)
c.6780G>C (p.Lys2260Asn)
c.6771G>C (p.Lys2257Asn)
n.11808C>G
5g.37064874G>TCA359523885CPLANE1,NIPBLc.8397G>T (p.Lys2799Asn)
c.*341G>T (n.*341G>T)
n.2320G>T
c.297G>T (p.Lys99Asn)
c.*851G>T (n.*851G>T)
c.7653G>T (p.Lys2551Asn)
c.8250G>T (p.Lys2750Asn)
c.8199G>T (p.Lys2733Asn)
c.8016G>T (p.Lys2672Asn)
c.7737G>T (p.Lys2579Asn)
c.6780G>T (p.Lys2260Asn)
c.6771G>T (p.Lys2257Asn)
n.11808C>A
5g.37064875G>ACA359523906CPLANE1,NIPBLc.8398G>A (p.Asp2800Asn)
c.*342G>A (n.*342G>A)
n.2321G>A
c.298G>A (p.Asp100Asn)
c.*852G>A (n.*852G>A)
c.7654G>A (p.Asp2552Asn)
c.8251G>A (p.Asp2751Asn)
c.8200G>A (p.Asp2734Asn)
c.8017G>A (p.Asp2673Asn)
c.7738G>A (p.Asp2580Asn)
c.6781G>A (p.Asp2261Asn)
c.6772G>A (p.Asp2258Asn)
n.11807C>T
 COSMIC
5g.37064875G>CCA359523911CPLANE1,NIPBLc.8398G>C (p.Asp2800His)
c.*342G>C (n.*342G>C)
n.2321G>C
c.298G>C (p.Asp100His)
c.*852G>C (n.*852G>C)
c.7654G>C (p.Asp2552His)
c.8251G>C (p.Asp2751His)
c.8200G>C (p.Asp2734His)
c.8017G>C (p.Asp2673His)
c.7738G>C (p.Asp2580His)
c.6781G>C (p.Asp2261His)
c.6772G>C (p.Asp2258His)
n.11807C>G
5g.37064875G>TCA359523912CPLANE1,NIPBLc.8398G>T (p.Asp2800Tyr)
c.*342G>T (n.*342G>T)
n.2321G>T
c.298G>T (p.Asp100Tyr)
c.*852G>T (n.*852G>T)
c.7654G>T (p.Asp2552Tyr)
c.8251G>T (p.Asp2751Tyr)
c.8200G>T (p.Asp2734Tyr)
c.8017G>T (p.Asp2673Tyr)
c.7738G>T (p.Asp2580Tyr)
c.6781G>T (p.Asp2261Tyr)
c.6772G>T (p.Asp2258Tyr)
n.11807C>A
5g.37064876A=CA1539590826CPLANE1,NIPBLc.8399A= (p.Asp2800=)
c.*343A= (n.*343A=)
n.2322A=
c.299A= (p.Asp100=)
c.*853A= (n.*853A=)
c.7655A= (p.Asp2552=)
c.8252A= (p.Asp2751=)
c.8201A= (p.Asp2734=)
c.8018A= (p.Asp2673=)
c.7739A= (p.Asp2580=)
c.6782A= (p.Asp2261=)
c.6773A= (p.Asp2258=)
n.11806T=
5g.37064876A>CCA359523914CPLANE1,NIPBLc.8399A>C (p.Asp2800Ala)
c.*343A>C (n.*343A>C)
n.2322A>C
c.299A>C (p.Asp100Ala)
c.*853A>C (n.*853A>C)
c.7655A>C (p.Asp2552Ala)
c.8252A>C (p.Asp2751Ala)
c.8201A>C (p.Asp2734Ala)
c.8018A>C (p.Asp2673Ala)
c.7739A>C (p.Asp2580Ala)
c.6782A>C (p.Asp2261Ala)
c.6773A>C (p.Asp2258Ala)
n.11806T>G
5g.37064876A>GCA359523915CPLANE1,NIPBLc.8399A>G (p.Asp2800Gly)
c.*343A>G (n.*343A>G)
n.2322A>G
c.299A>G (p.Asp100Gly)
c.*853A>G (n.*853A>G)
c.7655A>G (p.Asp2552Gly)
c.8252A>G (p.Asp2751Gly)
c.8201A>G (p.Asp2734Gly)
c.8018A>G (p.Asp2673Gly)
c.7739A>G (p.Asp2580Gly)
c.6782A>G (p.Asp2261Gly)
c.6773A>G (p.Asp2258Gly)
n.11806T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37064876A>TCA359523917CPLANE1,NIPBLc.8399A>T (p.Asp2800Val)
c.*343A>T (n.*343A>T)
n.2322A>T
c.299A>T (p.Asp100Val)
c.*853A>T (n.*853A>T)
c.7655A>T (p.Asp2552Val)
c.8252A>T (p.Asp2751Val)
c.8201A>T (p.Asp2734Val)
c.8018A>T (p.Asp2673Val)
c.7739A>T (p.Asp2580Val)
c.6782A>T (p.Asp2261Val)
c.6773A>T (p.Asp2258Val)
n.11806T>A
5g.37064877T>ACA359523920CPLANE1,NIPBLc.8400T>A (p.Asp2800Glu)
c.*344T>A (n.*344T>A)
n.2323T>A
c.300T>A (p.Asp100Glu)
c.*854T>A (n.*854T>A)
c.7656T>A (p.Asp2552Glu)
c.8253T>A (p.Asp2751Glu)
c.8202T>A (p.Asp2734Glu)
c.8019T>A (p.Asp2673Glu)
c.7740T>A (p.Asp2580Glu)
c.6783T>A (p.Asp2261Glu)
c.6774T>A (p.Asp2258Glu)
n.11805A>T
5g.37064877T>CCA444096704CPLANE1,NIPBLc.8400T>C (p.Asp2800=)
c.*344T>C (n.*344T>C)
n.2323T>C
c.300T>C (p.Asp100=)
c.*854T>C (n.*854T>C)
c.7656T>C (p.Asp2552=)
c.8253T>C (p.Asp2751=)
c.8202T>C (p.Asp2734=)
c.8019T>C (p.Asp2673=)
c.7740T>C (p.Asp2580=)
c.6783T>C (p.Asp2261=)
c.6774T>C (p.Asp2258=)
n.11805A>G
5g.37064877T>GCA359523924CPLANE1,NIPBLc.8400T>G (p.Asp2800Glu)
c.*344T>G (n.*344T>G)
n.2323T>G
c.300T>G (p.Asp100Glu)
c.*854T>G (n.*854T>G)
c.7656T>G (p.Asp2552Glu)
c.8253T>G (p.Asp2751Glu)
c.8202T>G (p.Asp2734Glu)
c.8019T>G (p.Asp2673Glu)
c.7740T>G (p.Asp2580Glu)
c.6783T>G (p.Asp2261Glu)
c.6774T>G (p.Asp2258Glu)
n.11805A>C
5g.37064878G>ACA359523927CPLANE1,NIPBLc.8401G>A (p.Gly2801Arg)
c.*345G>A (n.*345G>A)
n.2324G>A
c.301G>A (p.Gly101Arg)
c.*855G>A (n.*855G>A)
c.7657G>A (p.Gly2553Arg)
c.8254G>A (p.Gly2752Arg)
c.8203G>A (p.Gly2735Arg)
c.8020G>A (p.Gly2674Arg)
c.7741G>A (p.Gly2581Arg)
c.6784G>A (p.Gly2262Arg)
c.6775G>A (p.Gly2259Arg)
n.11804C>T
5g.37064878G>CCA359523928CPLANE1,NIPBLc.8401G>C (p.Gly2801Arg)
c.*345G>C (n.*345G>C)
n.2324G>C
c.301G>C (p.Gly101Arg)
c.*855G>C (n.*855G>C)
c.7657G>C (p.Gly2553Arg)
c.8254G>C (p.Gly2752Arg)
c.8203G>C (p.Gly2735Arg)
c.8020G>C (p.Gly2674Arg)
c.7741G>C (p.Gly2581Arg)
c.6784G>C (p.Gly2262Arg)
c.6775G>C (p.Gly2259Arg)
n.11804C>G
5g.37064878G>TCA359523929CPLANE1,NIPBLc.8401G>T (p.Gly2801Trp)
c.*345G>T (n.*345G>T)
n.2324G>T
c.301G>T (p.Gly101Trp)
c.*855G>T (n.*855G>T)
c.7657G>T (p.Gly2553Trp)
c.8254G>T (p.Gly2752Trp)
c.8203G>T (p.Gly2735Trp)
c.8020G>T (p.Gly2674Trp)
c.7741G>T (p.Gly2581Trp)
c.6784G>T (p.Gly2262Trp)
c.6775G>T (p.Gly2259Trp)
n.11804C>A

Number of alleles fetched