Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37153900_37153905dupCA3237842CPLANE1n.1209_1214dup
c.8210_8215dup (p.Ser2738_Ala2739insValSer)
c.8048_8053dup (p.Ser2684_Ala2685insValSer)
c.5222_5227dup (p.Ser1742_Ala1743insValSer)
n.452_457dup
n.501_506dup
c.1324_1329dup
c.5246_5251dup (p.Ser1750_Ala1751insValSer)
c.8207_8212dup (p.Ser2737_Ala2738insValSer)
c.8099_8104dup (p.Ser2701_Ala2702insValSer)
c.8081_8086dup (p.Ser2695_Ala2696insValSer)
c.4853_4858dup (p.Ser1619_Ala1620insValSer)
c.2783_2788dup (p.Ser929_Ala930insValSer)
c.8156_8161dup (p.Ser2720_Ala2721insValSer)
c.8102_8107dup (p.Ser2702_Ala2703insValSer)
c.7892_7897dup (p.Ser2632_Ala2633insValSer)
c.7538_7543dup (p.Ser2514_Ala2515insValSer)
c.5435_5440dup (p.Ser1813_Ala1814insValSer)
n.8385_8390dup
c.8021_8026dup (p.Ser2675_Ala2676insValSer)
c.7217_7222dup (p.Ser2407_Ala2408insValSer)
c.7022_7027dup (p.Ser2342_Ala2343insValSer)
n.8379_8384dup
n.8325_8330dup
n.8434_8439dup
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37153904C>ACA359474122CPLANE1n.1208G>T
c.8209G>T (p.Val2737Phe)
c.8047G>T (p.Val2683Phe)
c.5221G>T (p.Val1741Phe)
n.451G>T
n.500G>T
c.1323G>T
c.5245G>T (p.Val1749Phe)
c.8206G>T (p.Val2736Phe)
c.8098G>T (p.Val2700Phe)
c.8080G>T (p.Val2694Phe)
c.4852G>T (p.Val1618Phe)
c.2782G>T (p.Val928Phe)
c.8155G>T (p.Val2719Phe)
c.8101G>T (p.Val2701Phe)
c.7891G>T (p.Val2631Phe)
c.7537G>T (p.Val2513Phe)
c.5434G>T (p.Val1812Phe)
n.8384G>T
c.8020G>T (p.Val2674Phe)
c.7216G>T (p.Val2406Phe)
c.7021G>T (p.Val2341Phe)
n.8378G>T
n.8324G>T
n.8433G>T
5g.37153904C=CA1539651295CPLANE1n.1208G=
c.8209G= (p.Val2737=)
c.8047G= (p.Val2683=)
c.5221G= (p.Val1741=)
n.451G=
n.500G=
c.1323G=
c.5245G= (p.Val1749=)
c.8206G= (p.Val2736=)
c.8098G= (p.Val2700=)
c.8080G= (p.Val2694=)
c.4852G= (p.Val1618=)
c.2782G= (p.Val928=)
c.8155G= (p.Val2719=)
c.8101G= (p.Val2701=)
c.7891G= (p.Val2631=)
c.7537G= (p.Val2513=)
c.5434G= (p.Val1812=)
n.8384G=
c.8020G= (p.Val2674=)
c.7216G= (p.Val2406=)
c.7021G= (p.Val2341=)
n.8378G=
n.8324G=
n.8433G=
5g.37153904C>GCA359474123CPLANE1n.1208G>C
c.8209G>C (p.Val2737Leu)
c.8047G>C (p.Val2683Leu)
c.5221G>C (p.Val1741Leu)
n.451G>C
n.500G>C
c.1323G>C
c.5245G>C (p.Val1749Leu)
c.8206G>C (p.Val2736Leu)
c.8098G>C (p.Val2700Leu)
c.8080G>C (p.Val2694Leu)
c.4852G>C (p.Val1618Leu)
c.2782G>C (p.Val928Leu)
c.8155G>C (p.Val2719Leu)
c.8101G>C (p.Val2701Leu)
c.7891G>C (p.Val2631Leu)
c.7537G>C (p.Val2513Leu)
c.5434G>C (p.Val1812Leu)
n.8384G>C
c.8020G>C (p.Val2674Leu)
c.7216G>C (p.Val2406Leu)
c.7021G>C (p.Val2341Leu)
n.8378G>C
n.8324G>C
n.8433G>C
5g.37153904C>TCA359474125CPLANE1n.1208G>A
c.8209G>A (p.Val2737Ile)
c.8047G>A (p.Val2683Ile)
c.5221G>A (p.Val1741Ile)
n.451G>A
n.500G>A
c.1323G>A
c.5245G>A (p.Val1749Ile)
c.8206G>A (p.Val2736Ile)
c.8098G>A (p.Val2700Ile)
c.8080G>A (p.Val2694Ile)
c.4852G>A (p.Val1618Ile)
c.2782G>A (p.Val928Ile)
c.8155G>A (p.Val2719Ile)
c.8101G>A (p.Val2701Ile)
c.7891G>A (p.Val2631Ile)
c.7537G>A (p.Val2513Ile)
c.5434G>A (p.Val1812Ile)
n.8384G>A
c.8020G>A (p.Val2674Ile)
c.7216G>A (p.Val2406Ile)
c.7021G>A (p.Val2341Ile)
n.8378G>A
n.8324G>A
n.8433G>A
 dbSNP
5g.37153905A=CA1539651300CPLANE1n.1207T=
c.8208T= (p.Gly2736=)
c.8046T= (p.Gly2682=)
c.5220T= (p.Gly1740=)
n.450T=
n.499T=
c.1322T=
c.5244T= (p.Gly1748=)
n.460T=
c.8205T= (p.Gly2735=)
c.8097T= (p.Gly2699=)
c.8079T= (p.Gly2693=)
c.4851T= (p.Gly1617=)
c.2781T= (p.Gly927=)
c.8154T= (p.Gly2718=)
c.8100T= (p.Gly2700=)
c.7890T= (p.Gly2630=)
c.7536T= (p.Gly2512=)
c.5433T= (p.Gly1811=)
n.8383T=
c.8019T= (p.Gly2673=)
c.7215T= (p.Gly2405=)
c.7020T= (p.Gly2340=)
n.8377T=
n.8323T=
n.8432T=
5g.37153905A>CCA444096737CPLANE1n.1207T>G
c.8208T>G (p.Gly2736=)
c.8046T>G (p.Gly2682=)
c.5220T>G (p.Gly1740=)
n.450T>G
n.499T>G
c.1322T>G
c.5244T>G (p.Gly1748=)
n.460T>G
c.8205T>G (p.Gly2735=)
c.8097T>G (p.Gly2699=)
c.8079T>G (p.Gly2693=)
c.4851T>G (p.Gly1617=)
c.2781T>G (p.Gly927=)
c.8154T>G (p.Gly2718=)
c.8100T>G (p.Gly2700=)
c.7890T>G (p.Gly2630=)
c.7536T>G (p.Gly2512=)
c.5433T>G (p.Gly1811=)
n.8383T>G
c.8019T>G (p.Gly2673=)
c.7215T>G (p.Gly2405=)
c.7020T>G (p.Gly2340=)
n.8377T>G
n.8323T>G
n.8432T>G
 dbSNP
5g.37153905A>GCA444096738CPLANE1n.1207T>C
c.8208T>C (p.Gly2736=)
c.8046T>C (p.Gly2682=)
c.5220T>C (p.Gly1740=)
n.450T>C
n.499T>C
c.1322T>C
c.5244T>C (p.Gly1748=)
n.460T>C
c.8205T>C (p.Gly2735=)
c.8097T>C (p.Gly2699=)
c.8079T>C (p.Gly2693=)
c.4851T>C (p.Gly1617=)
c.2781T>C (p.Gly927=)
c.8154T>C (p.Gly2718=)
c.8100T>C (p.Gly2700=)
c.7890T>C (p.Gly2630=)
c.7536T>C (p.Gly2512=)
c.5433T>C (p.Gly1811=)
n.8383T>C
c.8019T>C (p.Gly2673=)
c.7215T>C (p.Gly2405=)
c.7020T>C (p.Gly2340=)
n.8377T>C
n.8323T>C
n.8432T>C
5g.37153905A>TCA444096739CPLANE1n.1207T>A
c.8208T>A (p.Gly2736=)
c.8046T>A (p.Gly2682=)
c.5220T>A (p.Gly1740=)
n.450T>A
n.499T>A
c.1322T>A
c.5244T>A (p.Gly1748=)
n.460T>A
c.8205T>A (p.Gly2735=)
c.8097T>A (p.Gly2699=)
c.8079T>A (p.Gly2693=)
c.4851T>A (p.Gly1617=)
c.2781T>A (p.Gly927=)
c.8154T>A (p.Gly2718=)
c.8100T>A (p.Gly2700=)
c.7890T>A (p.Gly2630=)
c.7536T>A (p.Gly2512=)
c.5433T>A (p.Gly1811=)
n.8383T>A
c.8019T>A (p.Gly2673=)
c.7215T>A (p.Gly2405=)
c.7020T>A (p.Gly2340=)
n.8377T>A
n.8323T>A
n.8432T>A
5g.37153906C>ACA359474127CPLANE1n.1206G>T
c.8207G>T (p.Gly2736Val)
c.8045G>T (p.Gly2682Val)
c.5219G>T (p.Gly1740Val)
n.449G>T
n.498G>T
c.1321G>T
c.5243G>T (p.Gly1748Val)
n.459G>T
c.8204G>T (p.Gly2735Val)
c.8096G>T (p.Gly2699Val)
c.8078G>T (p.Gly2693Val)
c.4850G>T (p.Gly1617Val)
c.2780G>T (p.Gly927Val)
c.8153G>T (p.Gly2718Val)
c.8099G>T (p.Gly2700Val)
c.7889G>T (p.Gly2630Val)
c.7535G>T (p.Gly2512Val)
c.5432G>T (p.Gly1811Val)
n.8382G>T
c.8018G>T (p.Gly2673Val)
c.7214G>T (p.Gly2405Val)
c.7019G>T (p.Gly2340Val)
n.8376G>T
n.8322G>T
n.8431G>T
 gnomAD v4
5g.37153906C=CA1539651304CPLANE1n.1206G=
c.8207G= (p.Gly2736=)
c.8045G= (p.Gly2682=)
c.5219G= (p.Gly1740=)
n.449G=
n.498G=
c.1321G=
c.5243G= (p.Gly1748=)
n.459G=
c.8204G= (p.Gly2735=)
c.8096G= (p.Gly2699=)
c.8078G= (p.Gly2693=)
c.4850G= (p.Gly1617=)
c.2780G= (p.Gly927=)
c.8153G= (p.Gly2718=)
c.8099G= (p.Gly2700=)
c.7889G= (p.Gly2630=)
c.7535G= (p.Gly2512=)
c.5432G= (p.Gly1811=)
n.8382G=
c.8018G= (p.Gly2673=)
c.7214G= (p.Gly2405=)
c.7019G= (p.Gly2340=)
n.8376G=
n.8322G=
n.8431G=
5g.37153906C>GCA359474128CPLANE1n.1206G>C
c.8207G>C (p.Gly2736Ala)
c.8045G>C (p.Gly2682Ala)
c.5219G>C (p.Gly1740Ala)
n.449G>C
n.498G>C
c.1321G>C
c.5243G>C (p.Gly1748Ala)
n.459G>C
c.8204G>C (p.Gly2735Ala)
c.8096G>C (p.Gly2699Ala)
c.8078G>C (p.Gly2693Ala)
c.4850G>C (p.Gly1617Ala)
c.2780G>C (p.Gly927Ala)
c.8153G>C (p.Gly2718Ala)
c.8099G>C (p.Gly2700Ala)
c.7889G>C (p.Gly2630Ala)
c.7535G>C (p.Gly2512Ala)
c.5432G>C (p.Gly1811Ala)
n.8382G>C
c.8018G>C (p.Gly2673Ala)
c.7214G>C (p.Gly2405Ala)
c.7019G>C (p.Gly2340Ala)
n.8376G>C
n.8322G>C
n.8431G>C
5g.37153906C>TCA359474129CPLANE1n.1206G>A
c.8207G>A (p.Gly2736Asp)
c.8045G>A (p.Gly2682Asp)
c.5219G>A (p.Gly1740Asp)
n.449G>A
n.498G>A
c.1321G>A
c.5243G>A (p.Gly1748Asp)
n.459G>A
c.8204G>A (p.Gly2735Asp)
c.8096G>A (p.Gly2699Asp)
c.8078G>A (p.Gly2693Asp)
c.4850G>A (p.Gly1617Asp)
c.2780G>A (p.Gly927Asp)
c.8153G>A (p.Gly2718Asp)
c.8099G>A (p.Gly2700Asp)
c.7889G>A (p.Gly2630Asp)
c.7535G>A (p.Gly2512Asp)
c.5432G>A (p.Gly1811Asp)
n.8382G>A
c.8018G>A (p.Gly2673Asp)
c.7214G>A (p.Gly2405Asp)
c.7019G>A (p.Gly2340Asp)
n.8376G>A
n.8322G>A
n.8431G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37153907C>ACA359474131CPLANE1n.1205G>T
c.8206G>T (p.Gly2736Cys)
c.8044G>T (p.Gly2682Cys)
c.5218G>T (p.Gly1740Cys)
n.448G>T
n.497G>T
c.1320G>T
c.5242G>T (p.Gly1748Cys)
n.458G>T
c.8203G>T (p.Gly2735Cys)
c.8095G>T (p.Gly2699Cys)
c.8077G>T (p.Gly2693Cys)
c.4849G>T (p.Gly1617Cys)
c.2779G>T (p.Gly927Cys)
c.8152G>T (p.Gly2718Cys)
c.8098G>T (p.Gly2700Cys)
c.7888G>T (p.Gly2630Cys)
c.7534G>T (p.Gly2512Cys)
c.5431G>T (p.Gly1811Cys)
n.8381G>T
c.8017G>T (p.Gly2673Cys)
c.7213G>T (p.Gly2405Cys)
c.7018G>T (p.Gly2340Cys)
n.8375G>T
n.8321G>T
n.8430G>T
 gnomAD v4
5g.37153907C=CA1539651308CPLANE1n.1205G=
c.8206G= (p.Gly2736=)
c.8044G= (p.Gly2682=)
c.5218G= (p.Gly1740=)
n.448G=
n.497G=
c.1320G=
c.5242G= (p.Gly1748=)
n.458G=
c.8203G= (p.Gly2735=)
c.8095G= (p.Gly2699=)
c.8077G= (p.Gly2693=)
c.4849G= (p.Gly1617=)
c.2779G= (p.Gly927=)
c.8152G= (p.Gly2718=)
c.8098G= (p.Gly2700=)
c.7888G= (p.Gly2630=)
c.7534G= (p.Gly2512=)
c.5431G= (p.Gly1811=)
n.8381G=
c.8017G= (p.Gly2673=)
c.7213G= (p.Gly2405=)
c.7018G= (p.Gly2340=)
n.8375G=
n.8321G=
n.8430G=
5g.37153907C>GCA3237843CPLANE1n.1205G>C
c.8206G>C (p.Gly2736Arg)
c.8044G>C (p.Gly2682Arg)
c.5218G>C (p.Gly1740Arg)
n.448G>C
n.497G>C
c.1320G>C
c.5242G>C (p.Gly1748Arg)
n.458G>C
c.8203G>C (p.Gly2735Arg)
c.8095G>C (p.Gly2699Arg)
c.8077G>C (p.Gly2693Arg)
c.4849G>C (p.Gly1617Arg)
c.2779G>C (p.Gly927Arg)
c.8152G>C (p.Gly2718Arg)
c.8098G>C (p.Gly2700Arg)
c.7888G>C (p.Gly2630Arg)
c.7534G>C (p.Gly2512Arg)
c.5431G>C (p.Gly1811Arg)
n.8381G>C
c.8017G>C (p.Gly2673Arg)
c.7213G>C (p.Gly2405Arg)
c.7018G>C (p.Gly2340Arg)
n.8375G>C
n.8321G>C
n.8430G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37153907C>TCA359474133CPLANE1n.1205G>A
c.8206G>A (p.Gly2736Ser)
c.8044G>A (p.Gly2682Ser)
c.5218G>A (p.Gly1740Ser)
n.448G>A
n.497G>A
c.1320G>A
c.5242G>A (p.Gly1748Ser)
n.458G>A
c.8203G>A (p.Gly2735Ser)
c.8095G>A (p.Gly2699Ser)
c.8077G>A (p.Gly2693Ser)
c.4849G>A (p.Gly1617Ser)
c.2779G>A (p.Gly927Ser)
c.8152G>A (p.Gly2718Ser)
c.8098G>A (p.Gly2700Ser)
c.7888G>A (p.Gly2630Ser)
c.7534G>A (p.Gly2512Ser)
c.5431G>A (p.Gly1811Ser)
n.8381G>A
c.8017G>A (p.Gly2673Ser)
c.7213G>A (p.Gly2405Ser)
c.7018G>A (p.Gly2340Ser)
n.8375G>A
n.8321G>A
n.8430G>A
5g.37153908T>ACA359474135CPLANE1n.1204A>T
c.8205A>T (p.Gln2735His)
c.8043A>T (p.Gln2681His)
c.5217A>T (p.Gln1739His)
n.447A>T
n.496A>T
c.1319A>T
c.5241A>T (p.Gln1747His)
n.457A>T
c.8202A>T (p.Gln2734His)
c.8094A>T (p.Gln2698His)
c.8076A>T (p.Gln2692His)
c.4848A>T (p.Gln1616His)
c.2778A>T (p.Gln926His)
c.8151A>T (p.Gln2717His)
c.8097A>T (p.Gln2699His)
c.7887A>T (p.Gln2629His)
c.7533A>T (p.Gln2511His)
c.5430A>T (p.Gln1810His)
n.8380A>T
c.8016A>T (p.Gln2672His)
c.7212A>T (p.Gln2404His)
c.7017A>T (p.Gln2339His)
n.8374A>T
n.8320A>T
n.8429A>T
5g.37153908T>CCA3237844CPLANE1n.1204A>G
c.8205A>G (p.Gln2735=)
c.8043A>G (p.Gln2681=)
c.5217A>G (p.Gln1739=)
n.447A>G
n.496A>G
c.1319A>G
c.5241A>G (p.Gln1747=)
n.457A>G
c.8202A>G (p.Gln2734=)
c.8094A>G (p.Gln2698=)
c.8076A>G (p.Gln2692=)
c.4848A>G (p.Gln1616=)
c.2778A>G (p.Gln926=)
c.8151A>G (p.Gln2717=)
c.8097A>G (p.Gln2699=)
c.7887A>G (p.Gln2629=)
c.7533A>G (p.Gln2511=)
c.5430A>G (p.Gln1810=)
n.8380A>G
c.8016A>G (p.Gln2672=)
c.7212A>G (p.Gln2404=)
c.7017A>G (p.Gln2339=)
n.8374A>G
n.8320A>G
n.8429A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37153908T>GCA359474137CPLANE1n.1204A>C
c.8205A>C (p.Gln2735His)
c.8043A>C (p.Gln2681His)
c.5217A>C (p.Gln1739His)
n.447A>C
n.496A>C
c.1319A>C
c.5241A>C (p.Gln1747His)
n.457A>C
c.8202A>C (p.Gln2734His)
c.8094A>C (p.Gln2698His)
c.8076A>C (p.Gln2692His)
c.4848A>C (p.Gln1616His)
c.2778A>C (p.Gln926His)
c.8151A>C (p.Gln2717His)
c.8097A>C (p.Gln2699His)
c.7887A>C (p.Gln2629His)
c.7533A>C (p.Gln2511His)
c.5430A>C (p.Gln1810His)
n.8380A>C
c.8016A>C (p.Gln2672His)
c.7212A>C (p.Gln2404His)
c.7017A>C (p.Gln2339His)
n.8374A>C
n.8320A>C
n.8429A>C
5g.37153908T=CA1539651317CPLANE1n.1204A=
c.8205A= (p.Gln2735=)
c.8043A= (p.Gln2681=)
c.5217A= (p.Gln1739=)
n.447A=
n.496A=
c.1319A=
c.5241A= (p.Gln1747=)
n.457A=
c.8202A= (p.Gln2734=)
c.8094A= (p.Gln2698=)
c.8076A= (p.Gln2692=)
c.4848A= (p.Gln1616=)
c.2778A= (p.Gln926=)
c.8151A= (p.Gln2717=)
c.8097A= (p.Gln2699=)
c.7887A= (p.Gln2629=)
c.7533A= (p.Gln2511=)
c.5430A= (p.Gln1810=)
n.8380A=
c.8016A= (p.Gln2672=)
c.7212A= (p.Gln2404=)
c.7017A= (p.Gln2339=)
n.8374A=
n.8320A=
n.8429A=
5g.37153909T>ACA359474142CPLANE1n.1203A>T
c.8204A>T (p.Gln2735Leu)
c.8042A>T (p.Gln2681Leu)
c.5216A>T (p.Gln1739Leu)
n.446A>T
n.495A>T
c.1318A>T
c.5240A>T (p.Gln1747Leu)
n.456A>T
c.8201A>T (p.Gln2734Leu)
c.8093A>T (p.Gln2698Leu)
c.8075A>T (p.Gln2692Leu)
c.4847A>T (p.Gln1616Leu)
c.2777A>T (p.Gln926Leu)
c.8150A>T (p.Gln2717Leu)
c.8096A>T (p.Gln2699Leu)
c.7886A>T (p.Gln2629Leu)
c.7532A>T (p.Gln2511Leu)
c.5429A>T (p.Gln1810Leu)
n.8379A>T
c.8015A>T (p.Gln2672Leu)
c.7211A>T (p.Gln2404Leu)
c.7016A>T (p.Gln2339Leu)
n.8373A>T
n.8319A>T
n.8428A>T
5g.37153909T>CCA359474139CPLANE1n.1203A>G
c.8204A>G (p.Gln2735Arg)
c.8042A>G (p.Gln2681Arg)
c.5216A>G (p.Gln1739Arg)
n.446A>G
n.495A>G
c.1318A>G
c.5240A>G (p.Gln1747Arg)
n.456A>G
c.8201A>G (p.Gln2734Arg)
c.8093A>G (p.Gln2698Arg)
c.8075A>G (p.Gln2692Arg)
c.4847A>G (p.Gln1616Arg)
c.2777A>G (p.Gln926Arg)
c.8150A>G (p.Gln2717Arg)
c.8096A>G (p.Gln2699Arg)
c.7886A>G (p.Gln2629Arg)
c.7532A>G (p.Gln2511Arg)
c.5429A>G (p.Gln1810Arg)
n.8379A>G
c.8015A>G (p.Gln2672Arg)
c.7211A>G (p.Gln2404Arg)
c.7016A>G (p.Gln2339Arg)
n.8373A>G
n.8319A>G
n.8428A>G
5g.37153909T>GCA359474140CPLANE1n.1203A>C
c.8204A>C (p.Gln2735Pro)
c.8042A>C (p.Gln2681Pro)
c.5216A>C (p.Gln1739Pro)
n.446A>C
n.495A>C
c.1318A>C
c.5240A>C (p.Gln1747Pro)
n.456A>C
c.8201A>C (p.Gln2734Pro)
c.8093A>C (p.Gln2698Pro)
c.8075A>C (p.Gln2692Pro)
c.4847A>C (p.Gln1616Pro)
c.2777A>C (p.Gln926Pro)
c.8150A>C (p.Gln2717Pro)
c.8096A>C (p.Gln2699Pro)
c.7886A>C (p.Gln2629Pro)
c.7532A>C (p.Gln2511Pro)
c.5429A>C (p.Gln1810Pro)
n.8379A>C
c.8015A>C (p.Gln2672Pro)
c.7211A>C (p.Gln2404Pro)
c.7016A>C (p.Gln2339Pro)
n.8373A>C
n.8319A>C
n.8428A>C
5g.37153910G>ACA359474143CPLANE1n.1202C>T
c.8203C>T (p.Gln2735Ter)
c.8041C>T (p.Gln2681Ter)
c.5215C>T (p.Gln1739Ter)
n.445C>T
n.494C>T
c.1317C>T
c.5239C>T (p.Gln1747Ter)
n.455C>T
c.8200C>T (p.Gln2734Ter)
c.8092C>T (p.Gln2698Ter)
c.8074C>T (p.Gln2692Ter)
c.4846C>T (p.Gln1616Ter)
c.2776C>T (p.Gln926Ter)
c.8149C>T (p.Gln2717Ter)
c.8095C>T (p.Gln2699Ter)
c.7885C>T (p.Gln2629Ter)
c.7531C>T (p.Gln2511Ter)
c.5428C>T (p.Gln1810Ter)
n.8378C>T
c.8014C>T (p.Gln2672Ter)
c.7210C>T (p.Gln2404Ter)
c.7015C>T (p.Gln2339Ter)
n.8372C>T
n.8318C>T
n.8427C>T
5g.37153910G>CCA359474145CPLANE1n.1202C>G
c.8203C>G (p.Gln2735Glu)
c.8041C>G (p.Gln2681Glu)
c.5215C>G (p.Gln1739Glu)
n.445C>G
n.494C>G
c.1317C>G
c.5239C>G (p.Gln1747Glu)
n.455C>G
c.8200C>G (p.Gln2734Glu)
c.8092C>G (p.Gln2698Glu)
c.8074C>G (p.Gln2692Glu)
c.4846C>G (p.Gln1616Glu)
c.2776C>G (p.Gln926Glu)
c.8149C>G (p.Gln2717Glu)
c.8095C>G (p.Gln2699Glu)
c.7885C>G (p.Gln2629Glu)
c.7531C>G (p.Gln2511Glu)
c.5428C>G (p.Gln1810Glu)
n.8378C>G
c.8014C>G (p.Gln2672Glu)
c.7210C>G (p.Gln2404Glu)
c.7015C>G (p.Gln2339Glu)
n.8372C>G
n.8318C>G
n.8427C>G
5g.37153910G>TCA359474146CPLANE1n.1202C>A
c.8203C>A (p.Gln2735Lys)
c.8041C>A (p.Gln2681Lys)
c.5215C>A (p.Gln1739Lys)
n.445C>A
n.494C>A
c.1317C>A
c.5239C>A (p.Gln1747Lys)
n.455C>A
c.8200C>A (p.Gln2734Lys)
c.8092C>A (p.Gln2698Lys)
c.8074C>A (p.Gln2692Lys)
c.4846C>A (p.Gln1616Lys)
c.2776C>A (p.Gln926Lys)
c.8149C>A (p.Gln2717Lys)
c.8095C>A (p.Gln2699Lys)
c.7885C>A (p.Gln2629Lys)
c.7531C>A (p.Gln2511Lys)
c.5428C>A (p.Gln1810Lys)
n.8378C>A
c.8014C>A (p.Gln2672Lys)
c.7210C>A (p.Gln2404Lys)
c.7015C>A (p.Gln2339Lys)
n.8372C>A
n.8318C>A
n.8427C>A
5g.37153911C>ACA444096740CPLANE1n.1201G>T
c.8202G>T (p.Leu2734=)
c.8040G>T (p.Leu2680=)
c.5214G>T (p.Leu1738=)
n.444G>T
n.493G>T
c.1316G>T
c.5238G>T (p.Leu1746=)
n.454G>T
c.8199G>T (p.Leu2733=)
c.8091G>T (p.Leu2697=)
c.8073G>T (p.Leu2691=)
c.4845G>T (p.Leu1615=)
c.2775G>T (p.Leu925=)
c.8148G>T (p.Leu2716=)
c.8094G>T (p.Leu2698=)
c.7884G>T (p.Leu2628=)
c.7530G>T (p.Leu2510=)
c.5427G>T (p.Leu1809=)
n.8377G>T
c.8013G>T (p.Leu2671=)
c.7209G>T (p.Leu2403=)
c.7014G>T (p.Leu2338=)
n.8371G>T
n.8317G>T
n.8426G>T
5g.37153911C>GCA444096741CPLANE1n.1201G>C
c.8202G>C (p.Leu2734=)
c.8040G>C (p.Leu2680=)
c.5214G>C (p.Leu1738=)
n.444G>C
n.493G>C
c.1316G>C
c.5238G>C (p.Leu1746=)
n.454G>C
c.8199G>C (p.Leu2733=)
c.8091G>C (p.Leu2697=)
c.8073G>C (p.Leu2691=)
c.4845G>C (p.Leu1615=)
c.2775G>C (p.Leu925=)
c.8148G>C (p.Leu2716=)
c.8094G>C (p.Leu2698=)
c.7884G>C (p.Leu2628=)
c.7530G>C (p.Leu2510=)
c.5427G>C (p.Leu1809=)
n.8377G>C
c.8013G>C (p.Leu2671=)
c.7209G>C (p.Leu2403=)
c.7014G>C (p.Leu2338=)
n.8371G>C
n.8317G>C
n.8426G>C
5g.37153911C>TCA444096742CPLANE1n.1201G>A
c.8202G>A (p.Leu2734=)
c.8040G>A (p.Leu2680=)
c.5214G>A (p.Leu1738=)
n.444G>A
n.493G>A
c.1316G>A
c.5238G>A (p.Leu1746=)
n.454G>A
c.8199G>A (p.Leu2733=)
c.8091G>A (p.Leu2697=)
c.8073G>A (p.Leu2691=)
c.4845G>A (p.Leu1615=)
c.2775G>A (p.Leu925=)
c.8148G>A (p.Leu2716=)
c.8094G>A (p.Leu2698=)
c.7884G>A (p.Leu2628=)
c.7530G>A (p.Leu2510=)
c.5427G>A (p.Leu1809=)
n.8377G>A
c.8013G>A (p.Leu2671=)
c.7209G>A (p.Leu2403=)
c.7014G>A (p.Leu2338=)
n.8371G>A
n.8317G>A
n.8426G>A
5g.37153912A>CCA359474148CPLANE1n.1200T>G
c.8201T>G (p.Leu2734Arg)
c.8039T>G (p.Leu2680Arg)
c.5213T>G (p.Leu1738Arg)
n.443T>G
n.492T>G
c.1315T>G
c.5237T>G (p.Leu1746Arg)
n.453T>G
c.8198T>G (p.Leu2733Arg)
c.8090T>G (p.Leu2697Arg)
c.8072T>G (p.Leu2691Arg)
c.4844T>G (p.Leu1615Arg)
c.2774T>G (p.Leu925Arg)
c.8147T>G (p.Leu2716Arg)
c.8093T>G (p.Leu2698Arg)
c.7883T>G (p.Leu2628Arg)
c.7529T>G (p.Leu2510Arg)
c.5426T>G (p.Leu1809Arg)
n.8376T>G
c.8012T>G (p.Leu2671Arg)
c.7208T>G (p.Leu2403Arg)
c.7013T>G (p.Leu2338Arg)
n.8370T>G
n.8316T>G
n.8425T>G
5g.37153912A>GCA359474150CPLANE1n.1200T>C
c.8201T>C (p.Leu2734Pro)
c.8039T>C (p.Leu2680Pro)
c.5213T>C (p.Leu1738Pro)
n.443T>C
n.492T>C
c.1315T>C
c.5237T>C (p.Leu1746Pro)
n.453T>C
c.8198T>C (p.Leu2733Pro)
c.8090T>C (p.Leu2697Pro)
c.8072T>C (p.Leu2691Pro)
c.4844T>C (p.Leu1615Pro)
c.2774T>C (p.Leu925Pro)
c.8147T>C (p.Leu2716Pro)
c.8093T>C (p.Leu2698Pro)
c.7883T>C (p.Leu2628Pro)
c.7529T>C (p.Leu2510Pro)
c.5426T>C (p.Leu1809Pro)
n.8376T>C
c.8012T>C (p.Leu2671Pro)
c.7208T>C (p.Leu2403Pro)
c.7013T>C (p.Leu2338Pro)
n.8370T>C
n.8316T>C
n.8425T>C
 gnomAD v4
5g.37153912A>TCA359474151CPLANE1n.1200T>A
c.8201T>A (p.Leu2734Gln)
c.8039T>A (p.Leu2680Gln)
c.5213T>A (p.Leu1738Gln)
n.443T>A
n.492T>A
c.1315T>A
c.5237T>A (p.Leu1746Gln)
n.453T>A
c.8198T>A (p.Leu2733Gln)
c.8090T>A (p.Leu2697Gln)
c.8072T>A (p.Leu2691Gln)
c.4844T>A (p.Leu1615Gln)
c.2774T>A (p.Leu925Gln)
c.8147T>A (p.Leu2716Gln)
c.8093T>A (p.Leu2698Gln)
c.7883T>A (p.Leu2628Gln)
c.7529T>A (p.Leu2510Gln)
c.5426T>A (p.Leu1809Gln)
n.8376T>A
c.8012T>A (p.Leu2671Gln)
c.7208T>A (p.Leu2403Gln)
c.7013T>A (p.Leu2338Gln)
n.8370T>A
n.8316T>A
n.8425T>A
5g.37153913G>ACA444096743CPLANE1n.1199C>T
c.8200C>T (p.Leu2734=)
c.8038C>T (p.Leu2680=)
c.5212C>T (p.Leu1738=)
n.442C>T
n.491C>T
c.1314C>T
c.5236C>T (p.Leu1746=)
n.452C>T
c.8197C>T (p.Leu2733=)
c.8089C>T (p.Leu2697=)
c.8071C>T (p.Leu2691=)
c.4843C>T (p.Leu1615=)
c.2773C>T (p.Leu925=)
c.8146C>T (p.Leu2716=)
c.8092C>T (p.Leu2698=)
c.7882C>T (p.Leu2628=)
c.7528C>T (p.Leu2510=)
c.5425C>T (p.Leu1809=)
n.8375C>T
c.8011C>T (p.Leu2671=)
c.7207C>T (p.Leu2403=)
c.7012C>T (p.Leu2338=)
n.8369C>T
n.8315C>T
n.8424C>T
 dbSNP gnomAD v2 gnomAD v4
5g.37153913G>CCA359474153CPLANE1n.1199C>G
c.8200C>G (p.Leu2734Val)
c.8038C>G (p.Leu2680Val)
c.5212C>G (p.Leu1738Val)
n.442C>G
n.491C>G
c.1314C>G
c.5236C>G (p.Leu1746Val)
n.452C>G
c.8197C>G (p.Leu2733Val)
c.8089C>G (p.Leu2697Val)
c.8071C>G (p.Leu2691Val)
c.4843C>G (p.Leu1615Val)
c.2773C>G (p.Leu925Val)
c.8146C>G (p.Leu2716Val)
c.8092C>G (p.Leu2698Val)
c.7882C>G (p.Leu2628Val)
c.7528C>G (p.Leu2510Val)
c.5425C>G (p.Leu1809Val)
n.8375C>G
c.8011C>G (p.Leu2671Val)
c.7207C>G (p.Leu2403Val)
c.7012C>G (p.Leu2338Val)
n.8369C>G
n.8315C>G
n.8424C>G
5g.37153913G=CA1539651324CPLANE1n.1199C=
c.8200C= (p.Leu2734=)
c.8038C= (p.Leu2680=)
c.5212C= (p.Leu1738=)
n.442C=
n.491C=
c.1314C=
c.5236C= (p.Leu1746=)
n.452C=
c.8197C= (p.Leu2733=)
c.8089C= (p.Leu2697=)
c.8071C= (p.Leu2691=)
c.4843C= (p.Leu1615=)
c.2773C= (p.Leu925=)
c.8146C= (p.Leu2716=)
c.8092C= (p.Leu2698=)
c.7882C= (p.Leu2628=)
c.7528C= (p.Leu2510=)
c.5425C= (p.Leu1809=)
n.8375C=
c.8011C= (p.Leu2671=)
c.7207C= (p.Leu2403=)
c.7012C= (p.Leu2338=)
n.8369C=
n.8315C=
n.8424C=
5g.37153913G>TCA359474155CPLANE1n.1199C>A
c.8200C>A (p.Leu2734Met)
c.8038C>A (p.Leu2680Met)
c.5212C>A (p.Leu1738Met)
n.442C>A
n.491C>A
c.1314C>A
c.5236C>A (p.Leu1746Met)
n.452C>A
c.8197C>A (p.Leu2733Met)
c.8089C>A (p.Leu2697Met)
c.8071C>A (p.Leu2691Met)
c.4843C>A (p.Leu1615Met)
c.2773C>A (p.Leu925Met)
c.8146C>A (p.Leu2716Met)
c.8092C>A (p.Leu2698Met)
c.7882C>A (p.Leu2628Met)
c.7528C>A (p.Leu2510Met)
c.5425C>A (p.Leu1809Met)
n.8375C>A
c.8011C>A (p.Leu2671Met)
c.7207C>A (p.Leu2403Met)
c.7012C>A (p.Leu2338Met)
n.8369C>A
n.8315C>A
n.8424C>A
5g.37153914C>ACA444096744CPLANE1n.1198G>T
c.8199G>T (p.Arg2733=)
c.8037G>T (p.Arg2679=)
c.5211G>T (p.Arg1737=)
n.441G>T
n.490G>T
c.1313G>T
c.5235G>T (p.Arg1745=)
n.451G>T
c.8196G>T (p.Arg2732=)
c.8088G>T (p.Arg2696=)
c.8070G>T (p.Arg2690=)
c.4842G>T (p.Arg1614=)
c.2772G>T (p.Arg924=)
c.8145G>T (p.Arg2715=)
c.8091G>T (p.Arg2697=)
c.7881G>T (p.Arg2627=)
c.7527G>T (p.Arg2509=)
c.5424G>T (p.Arg1808=)
n.8374G>T
c.8010G>T (p.Arg2670=)
c.7206G>T (p.Arg2402=)
c.7011G>T (p.Arg2337=)
n.8368G>T
n.8314G>T
n.8423G>T
5g.37153914C>GCA444096746CPLANE1n.1198G>C
c.8199G>C (p.Arg2733=)
c.8037G>C (p.Arg2679=)
c.5211G>C (p.Arg1737=)
n.441G>C
n.490G>C
c.1313G>C
c.5235G>C (p.Arg1745=)
n.451G>C
c.8196G>C (p.Arg2732=)
c.8088G>C (p.Arg2696=)
c.8070G>C (p.Arg2690=)
c.4842G>C (p.Arg1614=)
c.2772G>C (p.Arg924=)
c.8145G>C (p.Arg2715=)
c.8091G>C (p.Arg2697=)
c.7881G>C (p.Arg2627=)
c.7527G>C (p.Arg2509=)
c.5424G>C (p.Arg1808=)
n.8374G>C
c.8010G>C (p.Arg2670=)
c.7206G>C (p.Arg2402=)
c.7011G>C (p.Arg2337=)
n.8368G>C
n.8314G>C
n.8423G>C
5g.37153914C>TCA444096745CPLANE1n.1198G>A
c.8199G>A (p.Arg2733=)
c.8037G>A (p.Arg2679=)
c.5211G>A (p.Arg1737=)
n.441G>A
n.490G>A
c.1313G>A
c.5235G>A (p.Arg1745=)
n.451G>A
c.8196G>A (p.Arg2732=)
c.8088G>A (p.Arg2696=)
c.8070G>A (p.Arg2690=)
c.4842G>A (p.Arg1614=)
c.2772G>A (p.Arg924=)
c.8145G>A (p.Arg2715=)
c.8091G>A (p.Arg2697=)
c.7881G>A (p.Arg2627=)
c.7527G>A (p.Arg2509=)
c.5424G>A (p.Arg1808=)
n.8374G>A
c.8010G>A (p.Arg2670=)
c.7206G>A (p.Arg2402=)
c.7011G>A (p.Arg2337=)
n.8368G>A
n.8314G>A
n.8423G>A
5g.37153915C>ACA359474156CPLANE1n.1197G>T
c.8198G>T (p.Arg2733Leu)
c.8036G>T (p.Arg2679Leu)
c.5210G>T (p.Arg1737Leu)
n.440G>T
n.489G>T
c.1312G>T
c.5234G>T (p.Arg1745Leu)
n.450G>T
c.8195G>T (p.Arg2732Leu)
c.8087G>T (p.Arg2696Leu)
c.8069G>T (p.Arg2690Leu)
c.4841G>T (p.Arg1614Leu)
c.2771G>T (p.Arg924Leu)
c.8144G>T (p.Arg2715Leu)
c.8090G>T (p.Arg2697Leu)
c.7880G>T (p.Arg2627Leu)
c.7526G>T (p.Arg2509Leu)
c.5423G>T (p.Arg1808Leu)
n.8373G>T
c.8009G>T (p.Arg2670Leu)
c.7205G>T (p.Arg2402Leu)
c.7010G>T (p.Arg2337Leu)
n.8367G>T
n.8313G>T
n.8422G>T
 gnomAD v4
5g.37153915C=CA1539651327CPLANE1n.1197G=
c.8198G= (p.Arg2733=)
c.8036G= (p.Arg2679=)
c.5210G= (p.Arg1737=)
n.440G=
n.489G=
c.1312G=
c.5234G= (p.Arg1745=)
n.450G=
c.8195G= (p.Arg2732=)
c.8087G= (p.Arg2696=)
c.8069G= (p.Arg2690=)
c.4841G= (p.Arg1614=)
c.2771G= (p.Arg924=)
c.8144G= (p.Arg2715=)
c.8090G= (p.Arg2697=)
c.7880G= (p.Arg2627=)
c.7526G= (p.Arg2509=)
c.5423G= (p.Arg1808=)
n.8373G=
c.8009G= (p.Arg2670=)
c.7205G= (p.Arg2402=)
c.7010G= (p.Arg2337=)
n.8367G=
n.8313G=
n.8422G=
5g.37153915C>GCA359474157CPLANE1n.1197G>C
c.8198G>C (p.Arg2733Pro)
c.8036G>C (p.Arg2679Pro)
c.5210G>C (p.Arg1737Pro)
n.440G>C
n.489G>C
c.1312G>C
c.5234G>C (p.Arg1745Pro)
n.450G>C
c.8195G>C (p.Arg2732Pro)
c.8087G>C (p.Arg2696Pro)
c.8069G>C (p.Arg2690Pro)
c.4841G>C (p.Arg1614Pro)
c.2771G>C (p.Arg924Pro)
c.8144G>C (p.Arg2715Pro)
c.8090G>C (p.Arg2697Pro)
c.7880G>C (p.Arg2627Pro)
c.7526G>C (p.Arg2509Pro)
c.5423G>C (p.Arg1808Pro)
n.8373G>C
c.8009G>C (p.Arg2670Pro)
c.7205G>C (p.Arg2402Pro)
c.7010G>C (p.Arg2337Pro)
n.8367G>C
n.8313G>C
n.8422G>C
 ClinVar dbSNP
5g.37153915C>TCA3237845CPLANE1n.1197G>A
c.8198G>A (p.Arg2733Gln)
c.8036G>A (p.Arg2679Gln)
c.5210G>A (p.Arg1737Gln)
n.440G>A
n.489G>A
c.1312G>A
c.5234G>A (p.Arg1745Gln)
n.450G>A
c.8195G>A (p.Arg2732Gln)
c.8087G>A (p.Arg2696Gln)
c.8069G>A (p.Arg2690Gln)
c.4841G>A (p.Arg1614Gln)
c.2771G>A (p.Arg924Gln)
c.8144G>A (p.Arg2715Gln)
c.8090G>A (p.Arg2697Gln)
c.7880G>A (p.Arg2627Gln)
c.7526G>A (p.Arg2509Gln)
c.5423G>A (p.Arg1808Gln)
n.8373G>A
c.8009G>A (p.Arg2670Gln)
c.7205G>A (p.Arg2402Gln)
c.7010G>A (p.Arg2337Gln)
n.8367G>A
n.8313G>A
n.8422G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37153916G>ACA3237846CPLANE1n.1196C>T
c.8197C>T (p.Arg2733Trp)
c.8035C>T (p.Arg2679Trp)
c.5209C>T (p.Arg1737Trp)
n.439C>T
n.488C>T
c.1311C>T
c.5233C>T (p.Arg1745Trp)
n.449C>T
c.8194C>T (p.Arg2732Trp)
c.8086C>T (p.Arg2696Trp)
c.8068C>T (p.Arg2690Trp)
c.4840C>T (p.Arg1614Trp)
c.2770C>T (p.Arg924Trp)
c.8143C>T (p.Arg2715Trp)
c.8089C>T (p.Arg2697Trp)
c.7879C>T (p.Arg2627Trp)
c.7525C>T (p.Arg2509Trp)
c.5422C>T (p.Arg1808Trp)
n.8372C>T
c.8008C>T (p.Arg2670Trp)
c.7204C>T (p.Arg2402Trp)
c.7009C>T (p.Arg2337Trp)
n.8366C>T
n.8312C>T
n.8421C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.37153916G>CCA359474159CPLANE1n.1196C>G
c.8197C>G (p.Arg2733Gly)
c.8035C>G (p.Arg2679Gly)
c.5209C>G (p.Arg1737Gly)
n.439C>G
n.488C>G
c.1311C>G
c.5233C>G (p.Arg1745Gly)
n.449C>G
c.8194C>G (p.Arg2732Gly)
c.8086C>G (p.Arg2696Gly)
c.8068C>G (p.Arg2690Gly)
c.4840C>G (p.Arg1614Gly)
c.2770C>G (p.Arg924Gly)
c.8143C>G (p.Arg2715Gly)
c.8089C>G (p.Arg2697Gly)
c.7879C>G (p.Arg2627Gly)
c.7525C>G (p.Arg2509Gly)
c.5422C>G (p.Arg1808Gly)
n.8372C>G
c.8008C>G (p.Arg2670Gly)
c.7204C>G (p.Arg2402Gly)
c.7009C>G (p.Arg2337Gly)
n.8366C>G
n.8312C>G
n.8421C>G
5g.37153916G=CA1539651342CPLANE1n.1196C=
c.8197C= (p.Arg2733=)
c.8035C= (p.Arg2679=)
c.5209C= (p.Arg1737=)
n.439C=
n.488C=
c.1311C=
c.5233C= (p.Arg1745=)
n.449C=
c.8194C= (p.Arg2732=)
c.8086C= (p.Arg2696=)
c.8068C= (p.Arg2690=)
c.4840C= (p.Arg1614=)
c.2770C= (p.Arg924=)
c.8143C= (p.Arg2715=)
c.8089C= (p.Arg2697=)
c.7879C= (p.Arg2627=)
c.7525C= (p.Arg2509=)
c.5422C= (p.Arg1808=)
n.8372C=
c.8008C= (p.Arg2670=)
c.7204C= (p.Arg2402=)
c.7009C= (p.Arg2337=)
n.8366C=
n.8312C=
n.8421C=
5g.37153916G>TCA444096747CPLANE1n.1196C>A
c.8197C>A (p.Arg2733=)
c.8035C>A (p.Arg2679=)
c.5209C>A (p.Arg1737=)
n.439C>A
n.488C>A
c.1311C>A
c.5233C>A (p.Arg1745=)
n.449C>A
c.8194C>A (p.Arg2732=)
c.8086C>A (p.Arg2696=)
c.8068C>A (p.Arg2690=)
c.4840C>A (p.Arg1614=)
c.2770C>A (p.Arg924=)
c.8143C>A (p.Arg2715=)
c.8089C>A (p.Arg2697=)
c.7879C>A (p.Arg2627=)
c.7525C>A (p.Arg2509=)
c.5422C>A (p.Arg1808=)
n.8372C>A
c.8008C>A (p.Arg2670=)
c.7204C>A (p.Arg2402=)
c.7009C>A (p.Arg2337=)
n.8366C>A
n.8312C>A
n.8421C>A
5g.37153917T>ACA359474161CPLANE1n.1195A>T
c.8196A>T (p.Lys2732Asn)
c.8034A>T (p.Lys2678Asn)
c.5208A>T (p.Lys1736Asn)
n.438A>T
n.487A>T
c.1310A>T
c.5232A>T (p.Lys1744Asn)
n.448A>T
c.8193A>T (p.Lys2731Asn)
c.8085A>T (p.Lys2695Asn)
c.8067A>T (p.Lys2689Asn)
c.4839A>T (p.Lys1613Asn)
c.2769A>T (p.Lys923Asn)
c.8142A>T (p.Lys2714Asn)
c.8088A>T (p.Lys2696Asn)
c.7878A>T (p.Lys2626Asn)
c.7524A>T (p.Lys2508Asn)
c.5421A>T (p.Lys1807Asn)
n.8371A>T
c.8007A>T (p.Lys2669Asn)
c.7203A>T (p.Lys2401Asn)
c.7008A>T (p.Lys2336Asn)
n.8365A>T
n.8311A>T
n.8420A>T
5g.37153917T>CCA444096748CPLANE1n.1195A>G
c.8196A>G (p.Lys2732=)
c.8034A>G (p.Lys2678=)
c.5208A>G (p.Lys1736=)
n.438A>G
n.487A>G
c.1310A>G
c.5232A>G (p.Lys1744=)
n.448A>G
c.8193A>G (p.Lys2731=)
c.8085A>G (p.Lys2695=)
c.8067A>G (p.Lys2689=)
c.4839A>G (p.Lys1613=)
c.2769A>G (p.Lys923=)
c.8142A>G (p.Lys2714=)
c.8088A>G (p.Lys2696=)
c.7878A>G (p.Lys2626=)
c.7524A>G (p.Lys2508=)
c.5421A>G (p.Lys1807=)
n.8371A>G
c.8007A>G (p.Lys2669=)
c.7203A>G (p.Lys2401=)
c.7008A>G (p.Lys2336=)
n.8365A>G
n.8311A>G
n.8420A>G
 gnomAD v4
5g.37153917T>GCA359474163CPLANE1n.1195A>C
c.8196A>C (p.Lys2732Asn)
c.8034A>C (p.Lys2678Asn)
c.5208A>C (p.Lys1736Asn)
n.438A>C
n.487A>C
c.1310A>C
c.5232A>C (p.Lys1744Asn)
n.448A>C
c.8193A>C (p.Lys2731Asn)
c.8085A>C (p.Lys2695Asn)
c.8067A>C (p.Lys2689Asn)
c.4839A>C (p.Lys1613Asn)
c.2769A>C (p.Lys923Asn)
c.8142A>C (p.Lys2714Asn)
c.8088A>C (p.Lys2696Asn)
c.7878A>C (p.Lys2626Asn)
c.7524A>C (p.Lys2508Asn)
c.5421A>C (p.Lys1807Asn)
n.8371A>C
c.8007A>C (p.Lys2669Asn)
c.7203A>C (p.Lys2401Asn)
c.7008A>C (p.Lys2336Asn)
n.8365A>C
n.8311A>C
n.8420A>C
5g.37153918T>ACA359474164CPLANE1n.1194A>T
c.8195A>T (p.Lys2732Ile)
c.8033A>T (p.Lys2678Ile)
c.5207A>T (p.Lys1736Ile)
n.437A>T
n.486A>T
c.1309A>T
c.5231A>T (p.Lys1744Ile)
n.447A>T
c.8192A>T (p.Lys2731Ile)
c.8084A>T (p.Lys2695Ile)
c.8066A>T (p.Lys2689Ile)
c.4838A>T (p.Lys1613Ile)
c.2768A>T (p.Lys923Ile)
c.8141A>T (p.Lys2714Ile)
c.8087A>T (p.Lys2696Ile)
c.7877A>T (p.Lys2626Ile)
c.7523A>T (p.Lys2508Ile)
c.5420A>T (p.Lys1807Ile)
n.8370A>T
c.8006A>T (p.Lys2669Ile)
c.7202A>T (p.Lys2401Ile)
c.7007A>T (p.Lys2336Ile)
n.8364A>T
n.8310A>T
n.8419A>T
5g.37153918T>CCA359474166CPLANE1n.1194A>G
c.8195A>G (p.Lys2732Arg)
c.8033A>G (p.Lys2678Arg)
c.5207A>G (p.Lys1736Arg)
n.437A>G
n.486A>G
c.1309A>G
c.5231A>G (p.Lys1744Arg)
n.447A>G
c.8192A>G (p.Lys2731Arg)
c.8084A>G (p.Lys2695Arg)
c.8066A>G (p.Lys2689Arg)
c.4838A>G (p.Lys1613Arg)
c.2768A>G (p.Lys923Arg)
c.8141A>G (p.Lys2714Arg)
c.8087A>G (p.Lys2696Arg)
c.7877A>G (p.Lys2626Arg)
c.7523A>G (p.Lys2508Arg)
c.5420A>G (p.Lys1807Arg)
n.8370A>G
c.8006A>G (p.Lys2669Arg)
c.7202A>G (p.Lys2401Arg)
c.7007A>G (p.Lys2336Arg)
n.8364A>G
n.8310A>G
n.8419A>G
5g.37153918T>GCA359474168CPLANE1n.1194A>C
c.8195A>C (p.Lys2732Thr)
c.8033A>C (p.Lys2678Thr)
c.5207A>C (p.Lys1736Thr)
n.437A>C
n.486A>C
c.1309A>C
c.5231A>C (p.Lys1744Thr)
n.447A>C
c.8192A>C (p.Lys2731Thr)
c.8084A>C (p.Lys2695Thr)
c.8066A>C (p.Lys2689Thr)
c.4838A>C (p.Lys1613Thr)
c.2768A>C (p.Lys923Thr)
c.8141A>C (p.Lys2714Thr)
c.8087A>C (p.Lys2696Thr)
c.7877A>C (p.Lys2626Thr)
c.7523A>C (p.Lys2508Thr)
c.5420A>C (p.Lys1807Thr)
n.8370A>C
c.8006A>C (p.Lys2669Thr)
c.7202A>C (p.Lys2401Thr)
c.7007A>C (p.Lys2336Thr)
n.8364A>C
n.8310A>C
n.8419A>C
5g.37153919T>ACA359474171CPLANE1n.1193A>T
c.8194A>T (p.Lys2732Ter)
c.8032A>T (p.Lys2678Ter)
c.5206A>T (p.Lys1736Ter)
n.436A>T
n.485A>T
c.1308A>T
c.5230A>T (p.Lys1744Ter)
n.446A>T
c.8191A>T (p.Lys2731Ter)
c.8083A>T (p.Lys2695Ter)
c.8065A>T (p.Lys2689Ter)
c.4837A>T (p.Lys1613Ter)
c.2767A>T (p.Lys923Ter)
c.8140A>T (p.Lys2714Ter)
c.8086A>T (p.Lys2696Ter)
c.7876A>T (p.Lys2626Ter)
c.7522A>T (p.Lys2508Ter)
c.5419A>T (p.Lys1807Ter)
n.8369A>T
c.8005A>T (p.Lys2669Ter)
c.7201A>T (p.Lys2401Ter)
c.7006A>T (p.Lys2336Ter)
n.8363A>T
n.8309A>T
n.8418A>T
5g.37153919T>CCA359474170CPLANE1n.1193A>G
c.8194A>G (p.Lys2732Glu)
c.8032A>G (p.Lys2678Glu)
c.5206A>G (p.Lys1736Glu)
n.436A>G
n.485A>G
c.1308A>G
c.5230A>G (p.Lys1744Glu)
n.446A>G
c.8191A>G (p.Lys2731Glu)
c.8083A>G (p.Lys2695Glu)
c.8065A>G (p.Lys2689Glu)
c.4837A>G (p.Lys1613Glu)
c.2767A>G (p.Lys923Glu)
c.8140A>G (p.Lys2714Glu)
c.8086A>G (p.Lys2696Glu)
c.7876A>G (p.Lys2626Glu)
c.7522A>G (p.Lys2508Glu)
c.5419A>G (p.Lys1807Glu)
n.8369A>G
c.8005A>G (p.Lys2669Glu)
c.7201A>G (p.Lys2401Glu)
c.7006A>G (p.Lys2336Glu)
n.8363A>G
n.8309A>G
n.8418A>G
 gnomAD v4
5g.37153919T>GCA3237847CPLANE1n.1193A>C
c.8194A>C (p.Lys2732Gln)
c.8032A>C (p.Lys2678Gln)
c.5206A>C (p.Lys1736Gln)
n.436A>C
n.485A>C
c.1308A>C
c.5230A>C (p.Lys1744Gln)
n.446A>C
c.8191A>C (p.Lys2731Gln)
c.8083A>C (p.Lys2695Gln)
c.8065A>C (p.Lys2689Gln)
c.4837A>C (p.Lys1613Gln)
c.2767A>C (p.Lys923Gln)
c.8140A>C (p.Lys2714Gln)
c.8086A>C (p.Lys2696Gln)
c.7876A>C (p.Lys2626Gln)
c.7522A>C (p.Lys2508Gln)
c.5419A>C (p.Lys1807Gln)
n.8369A>C
c.8005A>C (p.Lys2669Gln)
c.7201A>C (p.Lys2401Gln)
c.7006A>C (p.Lys2336Gln)
n.8363A>C
n.8309A>C
n.8418A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37153919T=CA1539651352CPLANE1n.1193A=
c.8194A= (p.Lys2732=)
c.8032A= (p.Lys2678=)
c.5206A= (p.Lys1736=)
n.436A=
n.485A=
c.1308A=
c.5230A= (p.Lys1744=)
n.446A=
c.8191A= (p.Lys2731=)
c.8083A= (p.Lys2695=)
c.8065A= (p.Lys2689=)
c.4837A= (p.Lys1613=)
c.2767A= (p.Lys923=)
c.8140A= (p.Lys2714=)
c.8086A= (p.Lys2696=)
c.7876A= (p.Lys2626=)
c.7522A= (p.Lys2508=)
c.5419A= (p.Lys1807=)
n.8369A=
c.8005A= (p.Lys2669=)
c.7201A= (p.Lys2401=)
c.7006A= (p.Lys2336=)
n.8363A=
n.8309A=
n.8418A=
5g.37153920C>ACA359474173CPLANE1n.1192G>T
c.8193G>T (p.Trp2731Cys)
c.8031G>T (p.Trp2677Cys)
c.5205G>T (p.Trp1735Cys)
n.435G>T
n.484G>T
c.1307G>T
c.5229G>T (p.Trp1743Cys)
n.445G>T
c.8190G>T (p.Trp2730Cys)
c.8082G>T (p.Trp2694Cys)
c.8064G>T (p.Trp2688Cys)
c.4836G>T (p.Trp1612Cys)
c.2766G>T (p.Trp922Cys)
c.8139G>T (p.Trp2713Cys)
c.8085G>T (p.Trp2695Cys)
c.7875G>T (p.Trp2625Cys)
c.7521G>T (p.Trp2507Cys)
c.5418G>T (p.Trp1806Cys)
n.8368G>T
c.8004G>T (p.Trp2668Cys)
c.7200G>T (p.Trp2400Cys)
c.7005G>T (p.Trp2335Cys)
n.8362G>T
n.8308G>T
n.8417G>T
5g.37153920C>GCA359474175CPLANE1n.1192G>C
c.8193G>C (p.Trp2731Cys)
c.8031G>C (p.Trp2677Cys)
c.5205G>C (p.Trp1735Cys)
n.435G>C
n.484G>C
c.1307G>C
c.5229G>C (p.Trp1743Cys)
n.445G>C
c.8190G>C (p.Trp2730Cys)
c.8082G>C (p.Trp2694Cys)
c.8064G>C (p.Trp2688Cys)
c.4836G>C (p.Trp1612Cys)
c.2766G>C (p.Trp922Cys)
c.8139G>C (p.Trp2713Cys)
c.8085G>C (p.Trp2695Cys)
c.7875G>C (p.Trp2625Cys)
c.7521G>C (p.Trp2507Cys)
c.5418G>C (p.Trp1806Cys)
n.8368G>C
c.8004G>C (p.Trp2668Cys)
c.7200G>C (p.Trp2400Cys)
c.7005G>C (p.Trp2335Cys)
n.8362G>C
n.8308G>C
n.8417G>C
5g.37153920C>TCA359474176CPLANE1n.1192G>A
c.8193G>A (p.Trp2731Ter)
c.8031G>A (p.Trp2677Ter)
c.5205G>A (p.Trp1735Ter)
n.435G>A
n.484G>A
c.1307G>A
c.5229G>A (p.Trp1743Ter)
n.445G>A
c.8190G>A (p.Trp2730Ter)
c.8082G>A (p.Trp2694Ter)
c.8064G>A (p.Trp2688Ter)
c.4836G>A (p.Trp1612Ter)
c.2766G>A (p.Trp922Ter)
c.8139G>A (p.Trp2713Ter)
c.8085G>A (p.Trp2695Ter)
c.7875G>A (p.Trp2625Ter)
c.7521G>A (p.Trp2507Ter)
c.5418G>A (p.Trp1806Ter)
n.8368G>A
c.8004G>A (p.Trp2668Ter)
c.7200G>A (p.Trp2400Ter)
c.7005G>A (p.Trp2335Ter)
n.8362G>A
n.8308G>A
n.8417G>A
5g.37153921C>ACA359474178CPLANE1n.1191G>T
c.8192G>T (p.Trp2731Leu)
c.8030G>T (p.Trp2677Leu)
c.5204G>T (p.Trp1735Leu)
n.434G>T
n.483G>T
c.1306G>T
c.5228G>T (p.Trp1743Leu)
n.444G>T
c.8189G>T (p.Trp2730Leu)
c.8081G>T (p.Trp2694Leu)
c.8063G>T (p.Trp2688Leu)
c.4835G>T (p.Trp1612Leu)
c.2765G>T (p.Trp922Leu)
c.8138G>T (p.Trp2713Leu)
c.8084G>T (p.Trp2695Leu)
c.7874G>T (p.Trp2625Leu)
c.7520G>T (p.Trp2507Leu)
c.5417G>T (p.Trp1806Leu)
n.8367G>T
c.8003G>T (p.Trp2668Leu)
c.7199G>T (p.Trp2400Leu)
c.7004G>T (p.Trp2335Leu)
n.8361G>T
n.8307G>T
n.8416G>T
5g.37153921C>GCA359474180CPLANE1n.1191G>C
c.8192G>C (p.Trp2731Ser)
c.8030G>C (p.Trp2677Ser)
c.5204G>C (p.Trp1735Ser)
n.434G>C
n.483G>C
c.1306G>C
c.5228G>C (p.Trp1743Ser)
n.444G>C
c.8189G>C (p.Trp2730Ser)
c.8081G>C (p.Trp2694Ser)
c.8063G>C (p.Trp2688Ser)
c.4835G>C (p.Trp1612Ser)
c.2765G>C (p.Trp922Ser)
c.8138G>C (p.Trp2713Ser)
c.8084G>C (p.Trp2695Ser)
c.7874G>C (p.Trp2625Ser)
c.7520G>C (p.Trp2507Ser)
c.5417G>C (p.Trp1806Ser)
n.8367G>C
c.8003G>C (p.Trp2668Ser)
c.7199G>C (p.Trp2400Ser)
c.7004G>C (p.Trp2335Ser)
n.8361G>C
n.8307G>C
n.8416G>C
5g.37153921C>TCA359474181CPLANE1n.1191G>A
c.8192G>A (p.Trp2731Ter)
c.8030G>A (p.Trp2677Ter)
c.5204G>A (p.Trp1735Ter)
n.434G>A
n.483G>A
c.1306G>A
c.5228G>A (p.Trp1743Ter)
n.444G>A
c.8189G>A (p.Trp2730Ter)
c.8081G>A (p.Trp2694Ter)
c.8063G>A (p.Trp2688Ter)
c.4835G>A (p.Trp1612Ter)
c.2765G>A (p.Trp922Ter)
c.8138G>A (p.Trp2713Ter)
c.8084G>A (p.Trp2695Ter)
c.7874G>A (p.Trp2625Ter)
c.7520G>A (p.Trp2507Ter)
c.5417G>A (p.Trp1806Ter)
n.8367G>A
c.8003G>A (p.Trp2668Ter)
c.7199G>A (p.Trp2400Ter)
c.7004G>A (p.Trp2335Ter)
n.8361G>A
n.8307G>A
n.8416G>A
5g.37153922A>CCA359474183CPLANE1n.1190T>G
c.8191T>G (p.Trp2731Gly)
c.8029T>G (p.Trp2677Gly)
c.5203T>G (p.Trp1735Gly)
n.433T>G
n.482T>G
c.1305T>G
c.5227T>G (p.Trp1743Gly)
n.443T>G
c.8188T>G (p.Trp2730Gly)
c.8080T>G (p.Trp2694Gly)
c.8062T>G (p.Trp2688Gly)
c.4834T>G (p.Trp1612Gly)
c.2764T>G (p.Trp922Gly)
c.8137T>G (p.Trp2713Gly)
c.8083T>G (p.Trp2695Gly)
c.7873T>G (p.Trp2625Gly)
c.7519T>G (p.Trp2507Gly)
c.5416T>G (p.Trp1806Gly)
n.8366T>G
c.8002T>G (p.Trp2668Gly)
c.7198T>G (p.Trp2400Gly)
c.7003T>G (p.Trp2335Gly)
n.8360T>G
n.8306T>G
n.8415T>G
5g.37153922A>GCA359474185CPLANE1n.1190T>C
c.8191T>C (p.Trp2731Arg)
c.8029T>C (p.Trp2677Arg)
c.5203T>C (p.Trp1735Arg)
n.433T>C
n.482T>C
c.1305T>C
c.5227T>C (p.Trp1743Arg)
n.443T>C
c.8188T>C (p.Trp2730Arg)
c.8080T>C (p.Trp2694Arg)
c.8062T>C (p.Trp2688Arg)
c.4834T>C (p.Trp1612Arg)
c.2764T>C (p.Trp922Arg)
c.8137T>C (p.Trp2713Arg)
c.8083T>C (p.Trp2695Arg)
c.7873T>C (p.Trp2625Arg)
c.7519T>C (p.Trp2507Arg)
c.5416T>C (p.Trp1806Arg)
n.8366T>C
c.8002T>C (p.Trp2668Arg)
c.7198T>C (p.Trp2400Arg)
c.7003T>C (p.Trp2335Arg)
n.8360T>C
n.8306T>C
n.8415T>C
5g.37153922A>TCA359474184CPLANE1n.1190T>A
c.8191T>A (p.Trp2731Arg)
c.8029T>A (p.Trp2677Arg)
c.5203T>A (p.Trp1735Arg)
n.433T>A
n.482T>A
c.1305T>A
c.5227T>A (p.Trp1743Arg)
n.443T>A
c.8188T>A (p.Trp2730Arg)
c.8080T>A (p.Trp2694Arg)
c.8062T>A (p.Trp2688Arg)
c.4834T>A (p.Trp1612Arg)
c.2764T>A (p.Trp922Arg)
c.8137T>A (p.Trp2713Arg)
c.8083T>A (p.Trp2695Arg)
c.7873T>A (p.Trp2625Arg)
c.7519T>A (p.Trp2507Arg)
c.5416T>A (p.Trp1806Arg)
n.8366T>A
c.8002T>A (p.Trp2668Arg)
c.7198T>A (p.Trp2400Arg)
c.7003T>A (p.Trp2335Arg)
n.8360T>A
n.8306T>A
n.8415T>A
5g.37153923C>ACA359474187CPLANE1n.1189G>T
c.8190G>T (p.Leu2730Phe)
c.8028G>T (p.Leu2676Phe)
c.5202G>T (p.Leu1734Phe)
n.432G>T
n.481G>T
c.1304G>T
c.5226G>T (p.Leu1742Phe)
n.442G>T
c.8187G>T (p.Leu2729Phe)
c.8079G>T (p.Leu2693Phe)
c.8061G>T (p.Leu2687Phe)
c.4833G>T (p.Leu1611Phe)
c.2763G>T (p.Leu921Phe)
c.8136G>T (p.Leu2712Phe)
c.8082G>T (p.Leu2694Phe)
c.7872G>T (p.Leu2624Phe)
c.7518G>T (p.Leu2506Phe)
c.5415G>T (p.Leu1805Phe)
n.8365G>T
c.8001G>T (p.Leu2667Phe)
c.7197G>T (p.Leu2399Phe)
c.7002G>T (p.Leu2334Phe)
n.8359G>T
n.8305G>T
n.8414G>T
5g.37153923C>GCA359474189CPLANE1n.1189G>C
c.8190G>C (p.Leu2730Phe)
c.8028G>C (p.Leu2676Phe)
c.5202G>C (p.Leu1734Phe)
n.432G>C
n.481G>C
c.1304G>C
c.5226G>C (p.Leu1742Phe)
n.442G>C
c.8187G>C (p.Leu2729Phe)
c.8079G>C (p.Leu2693Phe)
c.8061G>C (p.Leu2687Phe)
c.4833G>C (p.Leu1611Phe)
c.2763G>C (p.Leu921Phe)
c.8136G>C (p.Leu2712Phe)
c.8082G>C (p.Leu2694Phe)
c.7872G>C (p.Leu2624Phe)
c.7518G>C (p.Leu2506Phe)
c.5415G>C (p.Leu1805Phe)
n.8365G>C
c.8001G>C (p.Leu2667Phe)
c.7197G>C (p.Leu2399Phe)
c.7002G>C (p.Leu2334Phe)
n.8359G>C
n.8305G>C
n.8414G>C
5g.37153923C>TCA444096749CPLANE1n.1189G>A
c.8190G>A (p.Leu2730=)
c.8028G>A (p.Leu2676=)
c.5202G>A (p.Leu1734=)
n.432G>A
n.481G>A
c.1304G>A
c.5226G>A (p.Leu1742=)
n.442G>A
c.8187G>A (p.Leu2729=)
c.8079G>A (p.Leu2693=)
c.8061G>A (p.Leu2687=)
c.4833G>A (p.Leu1611=)
c.2763G>A (p.Leu921=)
c.8136G>A (p.Leu2712=)
c.8082G>A (p.Leu2694=)
c.7872G>A (p.Leu2624=)
c.7518G>A (p.Leu2506=)
c.5415G>A (p.Leu1805=)
n.8365G>A
c.8001G>A (p.Leu2667=)
c.7197G>A (p.Leu2399=)
c.7002G>A (p.Leu2334=)
n.8359G>A
n.8305G>A
n.8414G>A
5g.37153924A>CCA359474191CPLANE1n.1188T>G
c.8189T>G (p.Leu2730Trp)
c.8027T>G (p.Leu2676Trp)
c.5201T>G (p.Leu1734Trp)
n.431T>G
n.480T>G
c.1303T>G
c.5225T>G (p.Leu1742Trp)
n.441T>G
c.8186T>G (p.Leu2729Trp)
c.8078T>G (p.Leu2693Trp)
c.8060T>G (p.Leu2687Trp)
c.4832T>G (p.Leu1611Trp)
c.2762T>G (p.Leu921Trp)
c.8135T>G (p.Leu2712Trp)
c.8081T>G (p.Leu2694Trp)
c.7871T>G (p.Leu2624Trp)
c.7517T>G (p.Leu2506Trp)
c.5414T>G (p.Leu1805Trp)
n.8364T>G
c.8000T>G (p.Leu2667Trp)
c.7196T>G (p.Leu2399Trp)
c.7001T>G (p.Leu2334Trp)
n.8358T>G
n.8304T>G
n.8413T>G
5g.37153924A>GCA359474192CPLANE1n.1188T>C
c.8189T>C (p.Leu2730Ser)
c.8027T>C (p.Leu2676Ser)
c.5201T>C (p.Leu1734Ser)
n.431T>C
n.480T>C
c.1303T>C
c.5225T>C (p.Leu1742Ser)
n.441T>C
c.8186T>C (p.Leu2729Ser)
c.8078T>C (p.Leu2693Ser)
c.8060T>C (p.Leu2687Ser)
c.4832T>C (p.Leu1611Ser)
c.2762T>C (p.Leu921Ser)
c.8135T>C (p.Leu2712Ser)
c.8081T>C (p.Leu2694Ser)
c.7871T>C (p.Leu2624Ser)
c.7517T>C (p.Leu2506Ser)
c.5414T>C (p.Leu1805Ser)
n.8364T>C
c.8000T>C (p.Leu2667Ser)
c.7196T>C (p.Leu2399Ser)
c.7001T>C (p.Leu2334Ser)
n.8358T>C
n.8304T>C
n.8413T>C
5g.37153924A>TCA359474194CPLANE1n.1188T>A
c.8189T>A (p.Leu2730Ter)
c.8027T>A (p.Leu2676Ter)
c.5201T>A (p.Leu1734Ter)
n.431T>A
n.480T>A
c.1303T>A
c.5225T>A (p.Leu1742Ter)
n.441T>A
c.8186T>A (p.Leu2729Ter)
c.8078T>A (p.Leu2693Ter)
c.8060T>A (p.Leu2687Ter)
c.4832T>A (p.Leu1611Ter)
c.2762T>A (p.Leu921Ter)
c.8135T>A (p.Leu2712Ter)
c.8081T>A (p.Leu2694Ter)
c.7871T>A (p.Leu2624Ter)
c.7517T>A (p.Leu2506Ter)
c.5414T>A (p.Leu1805Ter)
n.8364T>A
c.8000T>A (p.Leu2667Ter)
c.7196T>A (p.Leu2399Ter)
c.7001T>A (p.Leu2334Ter)
n.8358T>A
n.8304T>A
n.8413T>A
5g.37153925A=CA1539651357CPLANE1n.1187T=
c.8188T= (p.Leu2730=)
c.8026T= (p.Leu2676=)
c.5200T= (p.Leu1734=)
n.430T=
n.479T=
c.1302T=
c.5224T= (p.Leu1742=)
n.440T=
c.8185T= (p.Leu2729=)
c.8077T= (p.Leu2693=)
c.8059T= (p.Leu2687=)
c.4831T= (p.Leu1611=)
c.2761T= (p.Leu921=)
c.8134T= (p.Leu2712=)
c.8080T= (p.Leu2694=)
c.7870T= (p.Leu2624=)
c.7516T= (p.Leu2506=)
c.5413T= (p.Leu1805=)
n.8363T=
c.7999T= (p.Leu2667=)
c.7195T= (p.Leu2399=)
c.7000T= (p.Leu2334=)
n.8357T=
n.8303T=
n.8412T=
5g.37153925A>CCA359474196CPLANE1n.1187T>G
c.8188T>G (p.Leu2730Val)
c.8026T>G (p.Leu2676Val)
c.5200T>G (p.Leu1734Val)
n.430T>G
n.479T>G
c.1302T>G
c.5224T>G (p.Leu1742Val)
n.440T>G
c.8185T>G (p.Leu2729Val)
c.8077T>G (p.Leu2693Val)
c.8059T>G (p.Leu2687Val)
c.4831T>G (p.Leu1611Val)
c.2761T>G (p.Leu921Val)
c.8134T>G (p.Leu2712Val)
c.8080T>G (p.Leu2694Val)
c.7870T>G (p.Leu2624Val)
c.7516T>G (p.Leu2506Val)
c.5413T>G (p.Leu1805Val)
n.8363T>G
c.7999T>G (p.Leu2667Val)
c.7195T>G (p.Leu2399Val)
c.7000T>G (p.Leu2334Val)
n.8357T>G
n.8303T>G
n.8412T>G
5g.37153925A>GCA444096750CPLANE1n.1187T>C
c.8188T>C (p.Leu2730=)
c.8026T>C (p.Leu2676=)
c.5200T>C (p.Leu1734=)
n.430T>C
n.479T>C
c.1302T>C
c.5224T>C (p.Leu1742=)
n.440T>C
c.8185T>C (p.Leu2729=)
c.8077T>C (p.Leu2693=)
c.8059T>C (p.Leu2687=)
c.4831T>C (p.Leu1611=)
c.2761T>C (p.Leu921=)
c.8134T>C (p.Leu2712=)
c.8080T>C (p.Leu2694=)
c.7870T>C (p.Leu2624=)
c.7516T>C (p.Leu2506=)
c.5413T>C (p.Leu1805=)
n.8363T>C
c.7999T>C (p.Leu2667=)
c.7195T>C (p.Leu2399=)
c.7000T>C (p.Leu2334=)
n.8357T>C
n.8303T>C
n.8412T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.37153925A>TCA359474197CPLANE1n.1187T>A
c.8188T>A (p.Leu2730Met)
c.8026T>A (p.Leu2676Met)
c.5200T>A (p.Leu1734Met)
n.430T>A
n.479T>A
c.1302T>A
c.5224T>A (p.Leu1742Met)
n.440T>A
c.8185T>A (p.Leu2729Met)
c.8077T>A (p.Leu2693Met)
c.8059T>A (p.Leu2687Met)
c.4831T>A (p.Leu1611Met)
c.2761T>A (p.Leu921Met)
c.8134T>A (p.Leu2712Met)
c.8080T>A (p.Leu2694Met)
c.7870T>A (p.Leu2624Met)
c.7516T>A (p.Leu2506Met)
c.5413T>A (p.Leu1805Met)
n.8363T>A
c.7999T>A (p.Leu2667Met)
c.7195T>A (p.Leu2399Met)
c.7000T>A (p.Leu2334Met)
n.8357T>A
n.8303T>A
n.8412T>A
5g.37153928_37153931delCA2673584242CPLANE1n.1184_1187del
c.8185_8188del (p.Leu2729CysfsTer22)
c.8023_8026del (p.Leu2675CysfsTer22)
c.5197_5200del (p.Leu1733CysfsTer22)
n.427_430del
n.476_479del
c.1299_1302del
c.5221_5224del (p.Leu1741CysfsTer22)
n.437_440del
c.8182_8185del (p.Leu2728CysfsTer22)
c.8074_8077del (p.Leu2692CysfsTer22)
c.8056_8059del (p.Leu2686CysfsTer22)
c.4828_4831del (p.Leu1610CysfsTer22)
c.2758_2761del (p.Leu920CysfsTer22)
c.8131_8134del (p.Leu2711CysfsTer22)
c.8077_8080del (p.Leu2693CysfsTer22)
c.7867_7870del (p.Leu2623CysfsTer22)
c.7513_7516del (p.Leu2505CysfsTer22)
c.5410_5413del (p.Leu1804CysfsTer22)
n.8360_8363del
c.7996_7999del (p.Leu2666CysfsTer22)
c.7192_7195del (p.Leu2398CysfsTer22)
c.6997_7000del (p.Leu2333CysfsTer22)
n.8354_8357del
n.8300_8303del
n.8409_8412del
 gnomAD v4
5g.37153926T>ACA444096751CPLANE1n.1186A>T
c.8187A>T (p.Leu2729=)
c.8025A>T (p.Leu2675=)
c.5199A>T (p.Leu1733=)
n.429A>T
n.478A>T
c.1301A>T
c.5223A>T (p.Leu1741=)
n.439A>T
c.8184A>T (p.Leu2728=)
c.8076A>T (p.Leu2692=)
c.8058A>T (p.Leu2686=)
c.4830A>T (p.Leu1610=)
c.2760A>T (p.Leu920=)
c.8133A>T (p.Leu2711=)
c.8079A>T (p.Leu2693=)
c.7869A>T (p.Leu2623=)
c.7515A>T (p.Leu2505=)
c.5412A>T (p.Leu1804=)
n.8362A>T
c.7998A>T (p.Leu2666=)
c.7194A>T (p.Leu2398=)
c.6999A>T (p.Leu2333=)
n.8356A>T
n.8302A>T
n.8411A>T
5g.37153926T>CCA3237848CPLANE1n.1186A>G
c.8187A>G (p.Leu2729=)
c.8025A>G (p.Leu2675=)
c.5199A>G (p.Leu1733=)
n.429A>G
n.478A>G
c.1301A>G
c.5223A>G (p.Leu1741=)
n.439A>G
c.8184A>G (p.Leu2728=)
c.8076A>G (p.Leu2692=)
c.8058A>G (p.Leu2686=)
c.4830A>G (p.Leu1610=)
c.2760A>G (p.Leu920=)
c.8133A>G (p.Leu2711=)
c.8079A>G (p.Leu2693=)
c.7869A>G (p.Leu2623=)
c.7515A>G (p.Leu2505=)
c.5412A>G (p.Leu1804=)
n.8362A>G
c.7998A>G (p.Leu2666=)
c.7194A>G (p.Leu2398=)
c.6999A>G (p.Leu2333=)
n.8356A>G
n.8302A>G
n.8411A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37153926T>GCA444096752CPLANE1n.1186A>C
c.8187A>C (p.Leu2729=)
c.8025A>C (p.Leu2675=)
c.5199A>C (p.Leu1733=)
n.429A>C
n.478A>C
c.1301A>C
c.5223A>C (p.Leu1741=)
n.439A>C
c.8184A>C (p.Leu2728=)
c.8076A>C (p.Leu2692=)
c.8058A>C (p.Leu2686=)
c.4830A>C (p.Leu1610=)
c.2760A>C (p.Leu920=)
c.8133A>C (p.Leu2711=)
c.8079A>C (p.Leu2693=)
c.7869A>C (p.Leu2623=)
c.7515A>C (p.Leu2505=)
c.5412A>C (p.Leu1804=)
n.8362A>C
c.7998A>C (p.Leu2666=)
c.7194A>C (p.Leu2398=)
c.6999A>C (p.Leu2333=)
n.8356A>C
n.8302A>C
n.8411A>C
5g.37153926T=CA1539651363CPLANE1n.1186A=
c.8187A= (p.Leu2729=)
c.8025A= (p.Leu2675=)
c.5199A= (p.Leu1733=)
n.429A=
n.478A=
c.1301A=
c.5223A= (p.Leu1741=)
n.439A=
c.8184A= (p.Leu2728=)
c.8076A= (p.Leu2692=)
c.8058A= (p.Leu2686=)
c.4830A= (p.Leu1610=)
c.2760A= (p.Leu920=)
c.8133A= (p.Leu2711=)
c.8079A= (p.Leu2693=)
c.7869A= (p.Leu2623=)
c.7515A= (p.Leu2505=)
c.5412A= (p.Leu1804=)
n.8362A=
c.7998A= (p.Leu2666=)
c.7194A= (p.Leu2398=)
c.6999A= (p.Leu2333=)
n.8356A=
n.8302A=
n.8411A=
5g.37153927A>CCA359474200CPLANE1n.1185T>G
c.8186T>G (p.Leu2729Arg)
c.8024T>G (p.Leu2675Arg)
c.5198T>G (p.Leu1733Arg)
n.428T>G
n.477T>G
c.1300T>G
c.5222T>G (p.Leu1741Arg)
n.438T>G
c.8183T>G (p.Leu2728Arg)
c.8075T>G (p.Leu2692Arg)
c.8057T>G (p.Leu2686Arg)
c.4829T>G (p.Leu1610Arg)
c.2759T>G (p.Leu920Arg)
c.8132T>G (p.Leu2711Arg)
c.8078T>G (p.Leu2693Arg)
c.7868T>G (p.Leu2623Arg)
c.7514T>G (p.Leu2505Arg)
c.5411T>G (p.Leu1804Arg)
n.8361T>G
c.7997T>G (p.Leu2666Arg)
c.7193T>G (p.Leu2398Arg)
c.6998T>G (p.Leu2333Arg)
n.8355T>G
n.8301T>G
n.8410T>G
5g.37153927A>GCA359474201CPLANE1n.1185T>C
c.8186T>C (p.Leu2729Pro)
c.8024T>C (p.Leu2675Pro)
c.5198T>C (p.Leu1733Pro)
n.428T>C
n.477T>C
c.1300T>C
c.5222T>C (p.Leu1741Pro)
n.438T>C
c.8183T>C (p.Leu2728Pro)
c.8075T>C (p.Leu2692Pro)
c.8057T>C (p.Leu2686Pro)
c.4829T>C (p.Leu1610Pro)
c.2759T>C (p.Leu920Pro)
c.8132T>C (p.Leu2711Pro)
c.8078T>C (p.Leu2693Pro)
c.7868T>C (p.Leu2623Pro)
c.7514T>C (p.Leu2505Pro)
c.5411T>C (p.Leu1804Pro)
n.8361T>C
c.7997T>C (p.Leu2666Pro)
c.7193T>C (p.Leu2398Pro)
c.6998T>C (p.Leu2333Pro)
n.8355T>C
n.8301T>C
n.8410T>C
5g.37153927A>TCA359474203CPLANE1n.1185T>A
c.8186T>A (p.Leu2729Gln)
c.8024T>A (p.Leu2675Gln)
c.5198T>A (p.Leu1733Gln)
n.428T>A
n.477T>A
c.1300T>A
c.5222T>A (p.Leu1741Gln)
n.438T>A
c.8183T>A (p.Leu2728Gln)
c.8075T>A (p.Leu2692Gln)
c.8057T>A (p.Leu2686Gln)
c.4829T>A (p.Leu1610Gln)
c.2759T>A (p.Leu920Gln)
c.8132T>A (p.Leu2711Gln)
c.8078T>A (p.Leu2693Gln)
c.7868T>A (p.Leu2623Gln)
c.7514T>A (p.Leu2505Gln)
c.5411T>A (p.Leu1804Gln)
n.8361T>A
c.7997T>A (p.Leu2666Gln)
c.7193T>A (p.Leu2398Gln)
c.6998T>A (p.Leu2333Gln)
n.8355T>A
n.8301T>A
n.8410T>A
5g.37153927_37153928insATACCTCTTCTTTAATCA2513576592CPLANE1n.1184_1185insATTAAAGAAGAGGTAT
c.8185_8186insATTAAAGAAGAGGTAT (p.Leu2729HisfsTer2)
c.8023_8024insATTAAAGAAGAGGTAT (p.Leu2675HisfsTer2)
c.5197_5198insATTAAAGAAGAGGTAT (p.Leu1733HisfsTer2)
n.427_428insATTAAAGAAGAGGTAT
n.476_477insATTAAAGAAGAGGTAT
c.1299_1300insATTAAAGAAGAGGTAT
c.5221_5222insATTAAAGAAGAGGTAT (p.Leu1741HisfsTer2)
n.437_438insATTAAAGAAGAGGTAT
c.8182_8183insATTAAAGAAGAGGTAT (p.Leu2728HisfsTer2)
c.8074_8075insATTAAAGAAGAGGTAT (p.Leu2692HisfsTer2)
c.8056_8057insATTAAAGAAGAGGTAT (p.Leu2686HisfsTer2)
c.4828_4829insATTAAAGAAGAGGTAT (p.Leu1610HisfsTer2)
c.2758_2759insATTAAAGAAGAGGTAT (p.Leu920HisfsTer2)
c.8131_8132insATTAAAGAAGAGGTAT (p.Leu2711HisfsTer2)
c.8077_8078insATTAAAGAAGAGGTAT (p.Leu2693HisfsTer2)
c.7867_7868insATTAAAGAAGAGGTAT (p.Leu2623HisfsTer2)
c.7513_7514insATTAAAGAAGAGGTAT (p.Leu2505HisfsTer2)
c.5410_5411insATTAAAGAAGAGGTAT (p.Leu1804HisfsTer2)
n.8360_8361insATTAAAGAAGAGGTAT
c.7996_7997insATTAAAGAAGAGGTAT (p.Leu2666HisfsTer2)
c.7192_7193insATTAAAGAAGAGGTAT (p.Leu2398HisfsTer2)
c.6997_6998insATTAAAGAAGAGGTAT (p.Leu2333HisfsTer2)
n.8354_8355insATTAAAGAAGAGGTAT
n.8300_8301insATTAAAGAAGAGGTAT
n.8409_8410insATTAAAGAAGAGGTAT
5g.37153928G>ACA444096753CPLANE1n.1184C>T
c.8185C>T (p.Leu2729=)
c.8023C>T (p.Leu2675=)
c.5197C>T (p.Leu1733=)
n.427C>T
n.476C>T
c.1299C>T
c.5221C>T (p.Leu1741=)
n.437C>T
c.8182C>T (p.Leu2728=)
c.8074C>T (p.Leu2692=)
c.8056C>T (p.Leu2686=)
c.4828C>T (p.Leu1610=)
c.2758C>T (p.Leu920=)
c.8131C>T (p.Leu2711=)
c.8077C>T (p.Leu2693=)
c.7867C>T (p.Leu2623=)
c.7513C>T (p.Leu2505=)
c.5410C>T (p.Leu1804=)
n.8360C>T
c.7996C>T (p.Leu2666=)
c.7192C>T (p.Leu2398=)
c.6997C>T (p.Leu2333=)
n.8354C>T
n.8300C>T
n.8409C>T
5g.37153928G>CCA359474205CPLANE1n.1184C>G
c.8185C>G (p.Leu2729Val)
c.8023C>G (p.Leu2675Val)
c.5197C>G (p.Leu1733Val)
n.427C>G
n.476C>G
c.1299C>G
c.5221C>G (p.Leu1741Val)
n.437C>G
c.8182C>G (p.Leu2728Val)
c.8074C>G (p.Leu2692Val)
c.8056C>G (p.Leu2686Val)
c.4828C>G (p.Leu1610Val)
c.2758C>G (p.Leu920Val)
c.8131C>G (p.Leu2711Val)
c.8077C>G (p.Leu2693Val)
c.7867C>G (p.Leu2623Val)
c.7513C>G (p.Leu2505Val)
c.5410C>G (p.Leu1804Val)
n.8360C>G
c.7996C>G (p.Leu2666Val)
c.7192C>G (p.Leu2398Val)
c.6997C>G (p.Leu2333Val)
n.8354C>G
n.8300C>G
n.8409C>G
5g.37153928G>TCA359474204CPLANE1n.1184C>A
c.8185C>A (p.Leu2729Ile)
c.8023C>A (p.Leu2675Ile)
c.5197C>A (p.Leu1733Ile)
n.427C>A
n.476C>A
c.1299C>A
c.5221C>A (p.Leu1741Ile)
n.437C>A
c.8182C>A (p.Leu2728Ile)
c.8074C>A (p.Leu2692Ile)
c.8056C>A (p.Leu2686Ile)
c.4828C>A (p.Leu1610Ile)
c.2758C>A (p.Leu920Ile)
c.8131C>A (p.Leu2711Ile)
c.8077C>A (p.Leu2693Ile)
c.7867C>A (p.Leu2623Ile)
c.7513C>A (p.Leu2505Ile)
c.5410C>A (p.Leu1804Ile)
n.8360C>A
c.7996C>A (p.Leu2666Ile)
c.7192C>A (p.Leu2398Ile)
c.6997C>A (p.Leu2333Ile)
n.8354C>A
n.8300C>A
n.8409C>A
5g.37153929A=CA1539651371CPLANE1n.1183T=
c.8184T= (p.Tyr2728=)
c.8022T= (p.Tyr2674=)
c.5196T= (p.Tyr1732=)
n.426T=
n.475T=
c.1298T=
c.5220T= (p.Tyr1740=)
n.436T=
c.8181T= (p.Tyr2727=)
c.8073T= (p.Tyr2691=)
c.8055T= (p.Tyr2685=)
c.4827T= (p.Tyr1609=)
c.2757T= (p.Tyr919=)
c.8130T= (p.Tyr2710=)
c.8076T= (p.Tyr2692=)
c.7866T= (p.Tyr2622=)
c.7512T= (p.Tyr2504=)
c.5409T= (p.Tyr1803=)
n.8359T=
c.7995T= (p.Tyr2665=)
c.7191T= (p.Tyr2397=)
c.6996T= (p.Tyr2332=)
n.8353T=
n.8299T=
n.8408T=
5g.37153929A>CCA359474207CPLANE1n.1183T>G
c.8184T>G (p.Tyr2728Ter)
c.8022T>G (p.Tyr2674Ter)
c.5196T>G (p.Tyr1732Ter)
n.426T>G
n.475T>G
c.1298T>G
c.5220T>G (p.Tyr1740Ter)
n.436T>G
c.8181T>G (p.Tyr2727Ter)
c.8073T>G (p.Tyr2691Ter)
c.8055T>G (p.Tyr2685Ter)
c.4827T>G (p.Tyr1609Ter)
c.2757T>G (p.Tyr919Ter)
c.8130T>G (p.Tyr2710Ter)
c.8076T>G (p.Tyr2692Ter)
c.7866T>G (p.Tyr2622Ter)
c.7512T>G (p.Tyr2504Ter)
c.5409T>G (p.Tyr1803Ter)
n.8359T>G
c.7995T>G (p.Tyr2665Ter)
c.7191T>G (p.Tyr2397Ter)
c.6996T>G (p.Tyr2332Ter)
n.8353T>G
n.8299T>G
n.8408T>G
5g.37153929A>GCA444096754CPLANE1n.1183T>C
c.8184T>C (p.Tyr2728=)
c.8022T>C (p.Tyr2674=)
c.5196T>C (p.Tyr1732=)
n.426T>C
n.475T>C
c.1298T>C
c.5220T>C (p.Tyr1740=)
n.436T>C
c.8181T>C (p.Tyr2727=)
c.8073T>C (p.Tyr2691=)
c.8055T>C (p.Tyr2685=)
c.4827T>C (p.Tyr1609=)
c.2757T>C (p.Tyr919=)
c.8130T>C (p.Tyr2710=)
c.8076T>C (p.Tyr2692=)
c.7866T>C (p.Tyr2622=)
c.7512T>C (p.Tyr2504=)
c.5409T>C (p.Tyr1803=)
n.8359T>C
c.7995T>C (p.Tyr2665=)
c.7191T>C (p.Tyr2397=)
c.6996T>C (p.Tyr2332=)
n.8353T>C
n.8299T>C
n.8408T>C
 dbSNP gnomAD v3 gnomAD v4
5g.37153929A>TCA359474209CPLANE1n.1183T>A
c.8184T>A (p.Tyr2728Ter)
c.8022T>A (p.Tyr2674Ter)
c.5196T>A (p.Tyr1732Ter)
n.426T>A
n.475T>A
c.1298T>A
c.5220T>A (p.Tyr1740Ter)
n.436T>A
c.8181T>A (p.Tyr2727Ter)
c.8073T>A (p.Tyr2691Ter)
c.8055T>A (p.Tyr2685Ter)
c.4827T>A (p.Tyr1609Ter)
c.2757T>A (p.Tyr919Ter)
c.8130T>A (p.Tyr2710Ter)
c.8076T>A (p.Tyr2692Ter)
c.7866T>A (p.Tyr2622Ter)
c.7512T>A (p.Tyr2504Ter)
c.5409T>A (p.Tyr1803Ter)
n.8359T>A
c.7995T>A (p.Tyr2665Ter)
c.7191T>A (p.Tyr2397Ter)
c.6996T>A (p.Tyr2332Ter)
n.8353T>A
n.8299T>A
n.8408T>A
5g.37153930T>ACA359474211CPLANE1n.1182A>T
c.8183A>T (p.Tyr2728Phe)
c.8021A>T (p.Tyr2674Phe)
c.5195A>T (p.Tyr1732Phe)
n.425A>T
n.474A>T
c.1297A>T
c.5219A>T (p.Tyr1740Phe)
n.435A>T
c.8180A>T (p.Tyr2727Phe)
c.8072A>T (p.Tyr2691Phe)
c.8054A>T (p.Tyr2685Phe)
c.4826A>T (p.Tyr1609Phe)
c.2756A>T (p.Tyr919Phe)
c.8129A>T (p.Tyr2710Phe)
c.8075A>T (p.Tyr2692Phe)
c.7865A>T (p.Tyr2622Phe)
c.7511A>T (p.Tyr2504Phe)
c.5408A>T (p.Tyr1803Phe)
n.8358A>T
c.7994A>T (p.Tyr2665Phe)
c.7190A>T (p.Tyr2397Phe)
c.6995A>T (p.Tyr2332Phe)
n.8352A>T
n.8298A>T
n.8407A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.37153930T>CCA359474212CPLANE1n.1182A>G
c.8183A>G (p.Tyr2728Cys)
c.8021A>G (p.Tyr2674Cys)
c.5195A>G (p.Tyr1732Cys)
n.425A>G
n.474A>G
c.1297A>G
c.5219A>G (p.Tyr1740Cys)
n.435A>G
c.8180A>G (p.Tyr2727Cys)
c.8072A>G (p.Tyr2691Cys)
c.8054A>G (p.Tyr2685Cys)
c.4826A>G (p.Tyr1609Cys)
c.2756A>G (p.Tyr919Cys)
c.8129A>G (p.Tyr2710Cys)
c.8075A>G (p.Tyr2692Cys)
c.7865A>G (p.Tyr2622Cys)
c.7511A>G (p.Tyr2504Cys)
c.5408A>G (p.Tyr1803Cys)
n.8358A>G
c.7994A>G (p.Tyr2665Cys)
c.7190A>G (p.Tyr2397Cys)
c.6995A>G (p.Tyr2332Cys)
n.8352A>G
n.8298A>G
n.8407A>G
 gnomAD v4
5g.37153930T>GCA359474214CPLANE1n.1182A>C
c.8183A>C (p.Tyr2728Ser)
c.8021A>C (p.Tyr2674Ser)
c.5195A>C (p.Tyr1732Ser)
n.425A>C
n.474A>C
c.1297A>C
c.5219A>C (p.Tyr1740Ser)
n.435A>C
c.8180A>C (p.Tyr2727Ser)
c.8072A>C (p.Tyr2691Ser)
c.8054A>C (p.Tyr2685Ser)
c.4826A>C (p.Tyr1609Ser)
c.2756A>C (p.Tyr919Ser)
c.8129A>C (p.Tyr2710Ser)
c.8075A>C (p.Tyr2692Ser)
c.7865A>C (p.Tyr2622Ser)
c.7511A>C (p.Tyr2504Ser)
c.5408A>C (p.Tyr1803Ser)
n.8358A>C
c.7994A>C (p.Tyr2665Ser)
c.7190A>C (p.Tyr2397Ser)
c.6995A>C (p.Tyr2332Ser)
n.8352A>C
n.8298A>C
n.8407A>C
5g.37153930T=CA1539651373CPLANE1n.1182A=
c.8183A= (p.Tyr2728=)
c.8021A= (p.Tyr2674=)
c.5195A= (p.Tyr1732=)
n.425A=
n.474A=
c.1297A=
c.5219A= (p.Tyr1740=)
n.435A=
c.8180A= (p.Tyr2727=)
c.8072A= (p.Tyr2691=)
c.8054A= (p.Tyr2685=)
c.4826A= (p.Tyr1609=)
c.2756A= (p.Tyr919=)
c.8129A= (p.Tyr2710=)
c.8075A= (p.Tyr2692=)
c.7865A= (p.Tyr2622=)
c.7511A= (p.Tyr2504=)
c.5408A= (p.Tyr1803=)
n.8358A=
c.7994A= (p.Tyr2665=)
c.7190A= (p.Tyr2397=)
c.6995A= (p.Tyr2332=)
n.8352A=
n.8298A=
n.8407A=
5g.37153931A>CCA359474216CPLANE1n.1181T>G
c.8182T>G (p.Tyr2728Asp)
c.8020T>G (p.Tyr2674Asp)
c.5194T>G (p.Tyr1732Asp)
n.424T>G
n.473T>G
c.1296T>G
c.5218T>G (p.Tyr1740Asp)
n.434T>G
c.8179T>G (p.Tyr2727Asp)
c.8071T>G (p.Tyr2691Asp)
c.8053T>G (p.Tyr2685Asp)
c.4825T>G (p.Tyr1609Asp)
c.2755T>G (p.Tyr919Asp)
c.8128T>G (p.Tyr2710Asp)
c.8074T>G (p.Tyr2692Asp)
c.7864T>G (p.Tyr2622Asp)
c.7510T>G (p.Tyr2504Asp)
c.5407T>G (p.Tyr1803Asp)
n.8357T>G
c.7993T>G (p.Tyr2665Asp)
c.7189T>G (p.Tyr2397Asp)
c.6994T>G (p.Tyr2332Asp)
n.8351T>G
n.8297T>G
n.8406T>G
5g.37153931A>GCA359474217CPLANE1n.1181T>C
c.8182T>C (p.Tyr2728His)
c.8020T>C (p.Tyr2674His)
c.5194T>C (p.Tyr1732His)
n.424T>C
n.473T>C
c.1296T>C
c.5218T>C (p.Tyr1740His)
n.434T>C
c.8179T>C (p.Tyr2727His)
c.8071T>C (p.Tyr2691His)
c.8053T>C (p.Tyr2685His)
c.4825T>C (p.Tyr1609His)
c.2755T>C (p.Tyr919His)
c.8128T>C (p.Tyr2710His)
c.8074T>C (p.Tyr2692His)
c.7864T>C (p.Tyr2622His)
c.7510T>C (p.Tyr2504His)
c.5407T>C (p.Tyr1803His)
n.8357T>C
c.7993T>C (p.Tyr2665His)
c.7189T>C (p.Tyr2397His)
c.6994T>C (p.Tyr2332His)
n.8351T>C
n.8297T>C
n.8406T>C
5g.37153931A>TCA359474219CPLANE1n.1181T>A
c.8182T>A (p.Tyr2728Asn)
c.8020T>A (p.Tyr2674Asn)
c.5194T>A (p.Tyr1732Asn)
n.424T>A
n.473T>A
c.1296T>A
c.5218T>A (p.Tyr1740Asn)
n.434T>A
c.8179T>A (p.Tyr2727Asn)
c.8071T>A (p.Tyr2691Asn)
c.8053T>A (p.Tyr2685Asn)
c.4825T>A (p.Tyr1609Asn)
c.2755T>A (p.Tyr919Asn)
c.8128T>A (p.Tyr2710Asn)
c.8074T>A (p.Tyr2692Asn)
c.7864T>A (p.Tyr2622Asn)
c.7510T>A (p.Tyr2504Asn)
c.5407T>A (p.Tyr1803Asn)
n.8357T>A
c.7993T>A (p.Tyr2665Asn)
c.7189T>A (p.Tyr2397Asn)
c.6994T>A (p.Tyr2332Asn)
n.8351T>A
n.8297T>A
n.8406T>A
5g.37153932A=CA1539651381CPLANE1n.1180T=
c.8181T= (p.Asp2727=)
c.8019T= (p.Asp2673=)
c.5193T= (p.Asp1731=)
n.423T=
n.472T=
c.1295T=
c.5217T= (p.Asp1739=)
n.433T=
c.8178T= (p.Asp2726=)
c.8070T= (p.Asp2690=)
c.8052T= (p.Asp2684=)
c.4824T= (p.Asp1608=)
c.2754T= (p.Asp918=)
c.8127T= (p.Asp2709=)
c.8073T= (p.Asp2691=)
c.7863T= (p.Asp2621=)
c.7509T= (p.Asp2503=)
c.5406T= (p.Asp1802=)
n.8356T=
c.7992T= (p.Asp2664=)
c.7188T= (p.Asp2396=)
c.6993T= (p.Asp2331=)
n.8350T=
n.8296T=
n.8405T=
5g.37153932A>CCA359474221CPLANE1n.1180T>G
c.8181T>G (p.Asp2727Glu)
c.8019T>G (p.Asp2673Glu)
c.5193T>G (p.Asp1731Glu)
n.423T>G
n.472T>G
c.1295T>G
c.5217T>G (p.Asp1739Glu)
n.433T>G
c.8178T>G (p.Asp2726Glu)
c.8070T>G (p.Asp2690Glu)
c.8052T>G (p.Asp2684Glu)
c.4824T>G (p.Asp1608Glu)
c.2754T>G (p.Asp918Glu)
c.8127T>G (p.Asp2709Glu)
c.8073T>G (p.Asp2691Glu)
c.7863T>G (p.Asp2621Glu)
c.7509T>G (p.Asp2503Glu)
c.5406T>G (p.Asp1802Glu)
n.8356T>G
c.7992T>G (p.Asp2664Glu)
c.7188T>G (p.Asp2396Glu)
c.6993T>G (p.Asp2331Glu)
n.8350T>G
n.8296T>G
n.8405T>G
5g.37153932A>GCA117043065CPLANE1n.1180T>C
c.8181T>C (p.Asp2727=)
c.8019T>C (p.Asp2673=)
c.5193T>C (p.Asp1731=)
n.423T>C
n.472T>C
c.1295T>C
c.5217T>C (p.Asp1739=)
n.433T>C
c.8178T>C (p.Asp2726=)
c.8070T>C (p.Asp2690=)
c.8052T>C (p.Asp2684=)
c.4824T>C (p.Asp1608=)
c.2754T>C (p.Asp918=)
c.8127T>C (p.Asp2709=)
c.8073T>C (p.Asp2691=)
c.7863T>C (p.Asp2621=)
c.7509T>C (p.Asp2503=)
c.5406T>C (p.Asp1802=)
n.8356T>C
c.7992T>C (p.Asp2664=)
c.7188T>C (p.Asp2396=)
c.6993T>C (p.Asp2331=)
n.8350T>C
n.8296T>C
n.8405T>C
 dbSNP
5g.37153932A>TCA359474223CPLANE1n.1180T>A
c.8181T>A (p.Asp2727Glu)
c.8019T>A (p.Asp2673Glu)
c.5193T>A (p.Asp1731Glu)
n.423T>A
n.472T>A
c.1295T>A
c.5217T>A (p.Asp1739Glu)
n.433T>A
c.8178T>A (p.Asp2726Glu)
c.8070T>A (p.Asp2690Glu)
c.8052T>A (p.Asp2684Glu)
c.4824T>A (p.Asp1608Glu)
c.2754T>A (p.Asp918Glu)
c.8127T>A (p.Asp2709Glu)
c.8073T>A (p.Asp2691Glu)
c.7863T>A (p.Asp2621Glu)
c.7509T>A (p.Asp2503Glu)
c.5406T>A (p.Asp1802Glu)
n.8356T>A
c.7992T>A (p.Asp2664Glu)
c.7188T>A (p.Asp2396Glu)
c.6993T>A (p.Asp2331Glu)
n.8350T>A
n.8296T>A
n.8405T>A
5g.37153933T>ACA359474224CPLANE1n.1179A>T
c.8180A>T (p.Asp2727Val)
c.8018A>T (p.Asp2673Val)
c.5192A>T (p.Asp1731Val)
n.422A>T
n.471A>T
c.1294A>T
c.5216A>T (p.Asp1739Val)
n.432A>T
c.8177A>T (p.Asp2726Val)
c.8069A>T (p.Asp2690Val)
c.8051A>T (p.Asp2684Val)
c.4823A>T (p.Asp1608Val)
c.2753A>T (p.Asp918Val)
c.8126A>T (p.Asp2709Val)
c.8072A>T (p.Asp2691Val)
c.7862A>T (p.Asp2621Val)
c.7508A>T (p.Asp2503Val)
c.5405A>T (p.Asp1802Val)
n.8355A>T
c.7991A>T (p.Asp2664Val)
c.7187A>T (p.Asp2396Val)
c.6992A>T (p.Asp2331Val)
n.8349A>T
n.8295A>T
n.8404A>T
5g.37153933T>CCA359474226CPLANE1n.1179A>G
c.8180A>G (p.Asp2727Gly)
c.8018A>G (p.Asp2673Gly)
c.5192A>G (p.Asp1731Gly)
n.422A>G
n.471A>G
c.1294A>G
c.5216A>G (p.Asp1739Gly)
n.432A>G
c.8177A>G (p.Asp2726Gly)
c.8069A>G (p.Asp2690Gly)
c.8051A>G (p.Asp2684Gly)
c.4823A>G (p.Asp1608Gly)
c.2753A>G (p.Asp918Gly)
c.8126A>G (p.Asp2709Gly)
c.8072A>G (p.Asp2691Gly)
c.7862A>G (p.Asp2621Gly)
c.7508A>G (p.Asp2503Gly)
c.5405A>G (p.Asp1802Gly)
n.8355A>G
c.7991A>G (p.Asp2664Gly)
c.7187A>G (p.Asp2396Gly)
c.6992A>G (p.Asp2331Gly)
n.8349A>G
n.8295A>G
n.8404A>G
 gnomAD v4
5g.37153933T>GCA359474228CPLANE1n.1179A>C
c.8180A>C (p.Asp2727Ala)
c.8018A>C (p.Asp2673Ala)
c.5192A>C (p.Asp1731Ala)
n.422A>C
n.471A>C
c.1294A>C
c.5216A>C (p.Asp1739Ala)
n.432A>C
c.8177A>C (p.Asp2726Ala)
c.8069A>C (p.Asp2690Ala)
c.8051A>C (p.Asp2684Ala)
c.4823A>C (p.Asp1608Ala)
c.2753A>C (p.Asp918Ala)
c.8126A>C (p.Asp2709Ala)
c.8072A>C (p.Asp2691Ala)
c.7862A>C (p.Asp2621Ala)
c.7508A>C (p.Asp2503Ala)
c.5405A>C (p.Asp1802Ala)
n.8355A>C
c.7991A>C (p.Asp2664Ala)
c.7187A>C (p.Asp2396Ala)
c.6992A>C (p.Asp2331Ala)
n.8349A>C
n.8295A>C
n.8404A>C
5g.37153936_37153938delCA2580613553CPLANE1n.1177_1179del
c.8178_8180del (p.Glu2726del)
c.8016_8018del (p.Glu2672del)
c.5190_5192del (p.Glu1730del)
n.420_422del
n.469_471del
c.1292_1294del
c.5214_5216del (p.Glu1738del)
n.430_432del
c.8175_8177del (p.Glu2725del)
c.8067_8069del (p.Glu2689del)
c.8049_8051del (p.Glu2683del)
c.4821_4823del (p.Glu1607del)
c.2751_2753del (p.Glu917del)
c.8124_8126del (p.Glu2708del)
c.8070_8072del (p.Glu2690del)
c.7860_7862del (p.Glu2620del)
c.7506_7508del (p.Glu2502del)
c.5403_5405del (p.Glu1801del)
n.8353_8355del
c.7989_7991del (p.Glu2663del)
c.7185_7187del (p.Glu2395del)
c.6990_6992del (p.Glu2330del)
n.8347_8349del
n.8293_8295del
n.8402_8404del
 ClinVar dbSNP
5g.37153934C>ACA359474229CPLANE1n.1178G>T
c.8179G>T (p.Asp2727Tyr)
c.8017G>T (p.Asp2673Tyr)
c.5191G>T (p.Asp1731Tyr)
n.421G>T
n.470G>T
c.1293G>T
c.5215G>T (p.Asp1739Tyr)
n.431G>T
c.8176G>T (p.Asp2726Tyr)
c.8068G>T (p.Asp2690Tyr)
c.8050G>T (p.Asp2684Tyr)
c.4822G>T (p.Asp1608Tyr)
c.2752G>T (p.Asp918Tyr)
c.8125G>T (p.Asp2709Tyr)
c.8071G>T (p.Asp2691Tyr)
c.7861G>T (p.Asp2621Tyr)
c.7507G>T (p.Asp2503Tyr)
c.5404G>T (p.Asp1802Tyr)
n.8354G>T
c.7990G>T (p.Asp2664Tyr)
c.7186G>T (p.Asp2396Tyr)
c.6991G>T (p.Asp2331Tyr)
n.8348G>T
n.8294G>T
n.8403G>T
 dbSNP gnomAD v2
5g.37153934C=CA1539651388CPLANE1n.1178G=
c.8179G= (p.Asp2727=)
c.8017G= (p.Asp2673=)
c.5191G= (p.Asp1731=)
n.421G=
n.470G=
c.1293G=
c.5215G= (p.Asp1739=)
n.431G=
c.8176G= (p.Asp2726=)
c.8068G= (p.Asp2690=)
c.8050G= (p.Asp2684=)
c.4822G= (p.Asp1608=)
c.2752G= (p.Asp918=)
c.8125G= (p.Asp2709=)
c.8071G= (p.Asp2691=)
c.7861G= (p.Asp2621=)
c.7507G= (p.Asp2503=)
c.5404G= (p.Asp1802=)
n.8354G=
c.7990G= (p.Asp2664=)
c.7186G= (p.Asp2396=)
c.6991G= (p.Asp2331=)
n.8348G=
n.8294G=
n.8403G=
5g.37153934C>GCA359474231CPLANE1n.1178G>C
c.8179G>C (p.Asp2727His)
c.8017G>C (p.Asp2673His)
c.5191G>C (p.Asp1731His)
n.421G>C
n.470G>C
c.1293G>C
c.5215G>C (p.Asp1739His)
n.431G>C
c.8176G>C (p.Asp2726His)
c.8068G>C (p.Asp2690His)
c.8050G>C (p.Asp2684His)
c.4822G>C (p.Asp1608His)
c.2752G>C (p.Asp918His)
c.8125G>C (p.Asp2709His)
c.8071G>C (p.Asp2691His)
c.7861G>C (p.Asp2621His)
c.7507G>C (p.Asp2503His)
c.5404G>C (p.Asp1802His)
n.8354G>C
c.7990G>C (p.Asp2664His)
c.7186G>C (p.Asp2396His)
c.6991G>C (p.Asp2331His)
n.8348G>C
n.8294G>C
n.8403G>C
5g.37153934C>TCA359474233CPLANE1n.1178G>A
c.8179G>A (p.Asp2727Asn)
c.8017G>A (p.Asp2673Asn)
c.5191G>A (p.Asp1731Asn)
n.421G>A
n.470G>A
c.1293G>A
c.5215G>A (p.Asp1739Asn)
n.431G>A
c.8176G>A (p.Asp2726Asn)
c.8068G>A (p.Asp2690Asn)
c.8050G>A (p.Asp2684Asn)
c.4822G>A (p.Asp1608Asn)
c.2752G>A (p.Asp918Asn)
c.8125G>A (p.Asp2709Asn)
c.8071G>A (p.Asp2691Asn)
c.7861G>A (p.Asp2621Asn)
c.7507G>A (p.Asp2503Asn)
c.5404G>A (p.Asp1802Asn)
n.8354G>A
c.7990G>A (p.Asp2664Asn)
c.7186G>A (p.Asp2396Asn)
c.6991G>A (p.Asp2331Asn)
n.8348G>A
n.8294G>A
n.8403G>A
5g.37153935T>ACA359474236CPLANE1n.1177A>T
c.8178A>T (p.Glu2726Asp)
c.8016A>T (p.Glu2672Asp)
c.5190A>T (p.Glu1730Asp)
n.420A>T
n.469A>T
c.1292A>T
c.5214A>T (p.Glu1738Asp)
n.430A>T
c.8175A>T (p.Glu2725Asp)
c.8067A>T (p.Glu2689Asp)
c.8049A>T (p.Glu2683Asp)
c.4821A>T (p.Glu1607Asp)
c.2751A>T (p.Glu917Asp)
c.8124A>T (p.Glu2708Asp)
c.8070A>T (p.Glu2690Asp)
c.7860A>T (p.Glu2620Asp)
c.7506A>T (p.Glu2502Asp)
c.5403A>T (p.Glu1801Asp)
n.8353A>T
c.7989A>T (p.Glu2663Asp)
c.7185A>T (p.Glu2395Asp)
c.6990A>T (p.Glu2330Asp)
n.8347A>T
n.8293A>T
n.8402A>T
5g.37153935T>CCA444096755CPLANE1n.1177A>G
c.8178A>G (p.Glu2726=)
c.8016A>G (p.Glu2672=)
c.5190A>G (p.Glu1730=)
n.420A>G
n.469A>G
c.1292A>G
c.5214A>G (p.Glu1738=)
n.430A>G
c.8175A>G (p.Glu2725=)
c.8067A>G (p.Glu2689=)
c.8049A>G (p.Glu2683=)
c.4821A>G (p.Glu1607=)
c.2751A>G (p.Glu917=)
c.8124A>G (p.Glu2708=)
c.8070A>G (p.Glu2690=)
c.7860A>G (p.Glu2620=)
c.7506A>G (p.Glu2502=)
c.5403A>G (p.Glu1801=)
n.8353A>G
c.7989A>G (p.Glu2663=)
c.7185A>G (p.Glu2395=)
c.6990A>G (p.Glu2330=)
n.8347A>G
n.8293A>G
n.8402A>G
5g.37153935T>GCA359474234CPLANE1n.1177A>C
c.8178A>C (p.Glu2726Asp)
c.8016A>C (p.Glu2672Asp)
c.5190A>C (p.Glu1730Asp)
n.420A>C
n.469A>C
c.1292A>C
c.5214A>C (p.Glu1738Asp)
n.430A>C
c.8175A>C (p.Glu2725Asp)
c.8067A>C (p.Glu2689Asp)
c.8049A>C (p.Glu2683Asp)
c.4821A>C (p.Glu1607Asp)
c.2751A>C (p.Glu917Asp)
c.8124A>C (p.Glu2708Asp)
c.8070A>C (p.Glu2690Asp)
c.7860A>C (p.Glu2620Asp)
c.7506A>C (p.Glu2502Asp)
c.5403A>C (p.Glu1801Asp)
n.8353A>C
c.7989A>C (p.Glu2663Asp)
c.7185A>C (p.Glu2395Asp)
c.6990A>C (p.Glu2330Asp)
n.8347A>C
n.8293A>C
n.8402A>C
 gnomAD v4
5g.37153936delCA2673584243CPLANE1n.1177del
c.8178del (p.Asp2727IlefsTer25)
c.8016del (p.Asp2673IlefsTer25)
c.5190del (p.Asp1731IlefsTer25)
n.420del
n.469del
c.1292del
c.5214del (p.Asp1739IlefsTer25)
n.430del
c.8175del (p.Asp2726IlefsTer25)
c.8067del (p.Asp2690IlefsTer25)
c.8049del (p.Asp2684IlefsTer25)
c.4821del (p.Asp1608IlefsTer25)
c.2751del (p.Asp918IlefsTer25)
c.8124del (p.Asp2709IlefsTer25)
c.8070del (p.Asp2691IlefsTer25)
c.7860del (p.Asp2621IlefsTer25)
c.7506del (p.Asp2503IlefsTer25)
c.5403del (p.Asp1802IlefsTer25)
n.8353del
c.7989del (p.Asp2664IlefsTer25)
c.7185del (p.Asp2396IlefsTer25)
c.6990del (p.Asp2331IlefsTer25)
n.8347del
n.8293del
n.8402del
 gnomAD v4
5g.37153936T>ACA359474238CPLANE1n.1176A>T
c.8177A>T (p.Glu2726Val)
c.8015A>T (p.Glu2672Val)
c.5189A>T (p.Glu1730Val)
n.419A>T
n.468A>T
c.1291A>T
c.5213A>T (p.Glu1738Val)
n.429A>T
c.8174A>T (p.Glu2725Val)
c.8066A>T (p.Glu2689Val)
c.8048A>T (p.Glu2683Val)
c.4820A>T (p.Glu1607Val)
c.2750A>T (p.Glu917Val)
c.8123A>T (p.Glu2708Val)
c.8069A>T (p.Glu2690Val)
c.7859A>T (p.Glu2620Val)
c.7505A>T (p.Glu2502Val)
c.5402A>T (p.Glu1801Val)
n.8352A>T
c.7988A>T (p.Glu2663Val)
c.7184A>T (p.Glu2395Val)
c.6989A>T (p.Glu2330Val)
n.8346A>T
n.8292A>T
n.8401A>T
5g.37153936T>CCA359474239CPLANE1n.1176A>G
c.8177A>G (p.Glu2726Gly)
c.8015A>G (p.Glu2672Gly)
c.5189A>G (p.Glu1730Gly)
n.419A>G
n.468A>G
c.1291A>G
c.5213A>G (p.Glu1738Gly)
n.429A>G
c.8174A>G (p.Glu2725Gly)
c.8066A>G (p.Glu2689Gly)
c.8048A>G (p.Glu2683Gly)
c.4820A>G (p.Glu1607Gly)
c.2750A>G (p.Glu917Gly)
c.8123A>G (p.Glu2708Gly)
c.8069A>G (p.Glu2690Gly)
c.7859A>G (p.Glu2620Gly)
c.7505A>G (p.Glu2502Gly)
c.5402A>G (p.Glu1801Gly)
n.8352A>G
c.7988A>G (p.Glu2663Gly)
c.7184A>G (p.Glu2395Gly)
c.6989A>G (p.Glu2330Gly)
n.8346A>G
n.8292A>G
n.8401A>G
5g.37153936T>GCA359474241CPLANE1n.1176A>C
c.8177A>C (p.Glu2726Ala)
c.8015A>C (p.Glu2672Ala)
c.5189A>C (p.Glu1730Ala)
n.419A>C
n.468A>C
c.1291A>C
c.5213A>C (p.Glu1738Ala)
n.429A>C
c.8174A>C (p.Glu2725Ala)
c.8066A>C (p.Glu2689Ala)
c.8048A>C (p.Glu2683Ala)
c.4820A>C (p.Glu1607Ala)
c.2750A>C (p.Glu917Ala)
c.8123A>C (p.Glu2708Ala)
c.8069A>C (p.Glu2690Ala)
c.7859A>C (p.Glu2620Ala)
c.7505A>C (p.Glu2502Ala)
c.5402A>C (p.Glu1801Ala)
n.8352A>C
c.7988A>C (p.Glu2663Ala)
c.7184A>C (p.Glu2395Ala)
c.6989A>C (p.Glu2330Ala)
n.8346A>C
n.8292A>C
n.8401A>C
5g.37153937C>ACA359474243CPLANE1n.1175G>T
c.8176G>T (p.Glu2726Ter)
c.8014G>T (p.Glu2672Ter)
c.5188G>T (p.Glu1730Ter)
n.418G>T
n.467G>T
c.1290G>T
c.5212G>T (p.Glu1738Ter)
n.428G>T
c.8173G>T (p.Glu2725Ter)
c.8065G>T (p.Glu2689Ter)
c.8047G>T (p.Glu2683Ter)
c.4819G>T (p.Glu1607Ter)
c.2749G>T (p.Glu917Ter)
c.8122G>T (p.Glu2708Ter)
c.8068G>T (p.Glu2690Ter)
c.7858G>T (p.Glu2620Ter)
c.7504G>T (p.Glu2502Ter)
c.5401G>T (p.Glu1801Ter)
n.8351G>T
c.7987G>T (p.Glu2663Ter)
c.7183G>T (p.Glu2395Ter)
c.6988G>T (p.Glu2330Ter)
n.8345G>T
n.8291G>T
n.8400G>T
5g.37153937C>GCA359474244CPLANE1n.1175G>C
c.8176G>C (p.Glu2726Gln)
c.8014G>C (p.Glu2672Gln)
c.5188G>C (p.Glu1730Gln)
n.418G>C
n.467G>C
c.1290G>C
c.5212G>C (p.Glu1738Gln)
n.428G>C
c.8173G>C (p.Glu2725Gln)
c.8065G>C (p.Glu2689Gln)
c.8047G>C (p.Glu2683Gln)
c.4819G>C (p.Glu1607Gln)
c.2749G>C (p.Glu917Gln)
c.8122G>C (p.Glu2708Gln)
c.8068G>C (p.Glu2690Gln)
c.7858G>C (p.Glu2620Gln)
c.7504G>C (p.Glu2502Gln)
c.5401G>C (p.Glu1801Gln)
n.8351G>C
c.7987G>C (p.Glu2663Gln)
c.7183G>C (p.Glu2395Gln)
c.6988G>C (p.Glu2330Gln)
n.8345G>C
n.8291G>C
n.8400G>C
5g.37153937C>TCA359474246CPLANE1n.1175G>A
c.8176G>A (p.Glu2726Lys)
c.8014G>A (p.Glu2672Lys)
c.5188G>A (p.Glu1730Lys)
n.418G>A
n.467G>A
c.1290G>A
c.5212G>A (p.Glu1738Lys)
n.428G>A
c.8173G>A (p.Glu2725Lys)
c.8065G>A (p.Glu2689Lys)
c.8047G>A (p.Glu2683Lys)
c.4819G>A (p.Glu1607Lys)
c.2749G>A (p.Glu917Lys)
c.8122G>A (p.Glu2708Lys)
c.8068G>A (p.Glu2690Lys)
c.7858G>A (p.Glu2620Lys)
c.7504G>A (p.Glu2502Lys)
c.5401G>A (p.Glu1801Lys)
n.8351G>A
c.7987G>A (p.Glu2663Lys)
c.7183G>A (p.Glu2395Lys)
c.6988G>A (p.Glu2330Lys)
n.8345G>A
n.8291G>A
n.8400G>A
5g.37153938T>ACA444096756CPLANE1n.1174A>T
c.8175A>T (p.Ala2725=)
c.8013A>T (p.Ala2671=)
c.5187A>T (p.Ala1729=)
n.417A>T
n.466A>T
c.1289A>T
c.5211A>T (p.Ala1737=)
n.427A>T
c.8172A>T (p.Ala2724=)
c.8064A>T (p.Ala2688=)
c.8046A>T (p.Ala2682=)
c.4818A>T (p.Ala1606=)
c.2748A>T (p.Ala916=)
c.8121A>T (p.Ala2707=)
c.8067A>T (p.Ala2689=)
c.7857A>T (p.Ala2619=)
c.7503A>T (p.Ala2501=)
c.5400A>T (p.Ala1800=)
n.8350A>T
c.7986A>T (p.Ala2662=)
c.7182A>T (p.Ala2394=)
c.6987A>T (p.Ala2329=)
n.8344A>T
n.8290A>T
n.8399A>T
5g.37153938T>CCA444096757CPLANE1n.1174A>G
c.8175A>G (p.Ala2725=)
c.8013A>G (p.Ala2671=)
c.5187A>G (p.Ala1729=)
n.417A>G
n.466A>G
c.1289A>G
c.5211A>G (p.Ala1737=)
n.427A>G
c.8172A>G (p.Ala2724=)
c.8064A>G (p.Ala2688=)
c.8046A>G (p.Ala2682=)
c.4818A>G (p.Ala1606=)
c.2748A>G (p.Ala916=)
c.8121A>G (p.Ala2707=)
c.8067A>G (p.Ala2689=)
c.7857A>G (p.Ala2619=)
c.7503A>G (p.Ala2501=)
c.5400A>G (p.Ala1800=)
n.8350A>G
c.7986A>G (p.Ala2662=)
c.7182A>G (p.Ala2394=)
c.6987A>G (p.Ala2329=)
n.8344A>G
n.8290A>G
n.8399A>G
 gnomAD v4
5g.37153938T>GCA3237849CPLANE1n.1174A>C
c.8175A>C (p.Ala2725=)
c.8013A>C (p.Ala2671=)
c.5187A>C (p.Ala1729=)
n.417A>C
n.466A>C
c.1289A>C
c.5211A>C (p.Ala1737=)
n.427A>C
c.8172A>C (p.Ala2724=)
c.8064A>C (p.Ala2688=)
c.8046A>C (p.Ala2682=)
c.4818A>C (p.Ala1606=)
c.2748A>C (p.Ala916=)
c.8121A>C (p.Ala2707=)
c.8067A>C (p.Ala2689=)
c.7857A>C (p.Ala2619=)
c.7503A>C (p.Ala2501=)
c.5400A>C (p.Ala1800=)
n.8350A>C
c.7986A>C (p.Ala2662=)
c.7182A>C (p.Ala2394=)
c.6987A>C (p.Ala2329=)
n.8344A>C
n.8290A>C
n.8399A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37153938T=CA1539651397CPLANE1n.1174A=
c.8175A= (p.Ala2725=)
c.8013A= (p.Ala2671=)
c.5187A= (p.Ala1729=)
n.417A=
n.466A=
c.1289A=
c.5211A= (p.Ala1737=)
n.427A=
c.8172A= (p.Ala2724=)
c.8064A= (p.Ala2688=)
c.8046A= (p.Ala2682=)
c.4818A= (p.Ala1606=)
c.2748A= (p.Ala916=)
c.8121A= (p.Ala2707=)
c.8067A= (p.Ala2689=)
c.7857A= (p.Ala2619=)
c.7503A= (p.Ala2501=)
c.5400A= (p.Ala1800=)
n.8350A=
c.7986A= (p.Ala2662=)
c.7182A= (p.Ala2394=)
c.6987A= (p.Ala2329=)
n.8344A=
n.8290A=
n.8399A=
5g.37153939G>ACA359474249CPLANE1n.1173C>T
c.8174C>T (p.Ala2725Val)
c.8012C>T (p.Ala2671Val)
c.5186C>T (p.Ala1729Val)
n.416C>T
n.465C>T
c.1288C>T
c.5210C>T (p.Ala1737Val)
n.426C>T
c.8171C>T (p.Ala2724Val)
c.8063C>T (p.Ala2688Val)
c.8045C>T (p.Ala2682Val)
c.4817C>T (p.Ala1606Val)
c.2747C>T (p.Ala916Val)
c.8120C>T (p.Ala2707Val)
c.8066C>T (p.Ala2689Val)
c.7856C>T (p.Ala2619Val)
c.7502C>T (p.Ala2501Val)
c.5399C>T (p.Ala1800Val)
n.8349C>T
c.7985C>T (p.Ala2662Val)
c.7181C>T (p.Ala2394Val)
c.6986C>T (p.Ala2329Val)
n.8343C>T
n.8289C>T
n.8398C>T
5g.37153939G>CCA359474250CPLANE1n.1173C>G
c.8174C>G (p.Ala2725Gly)
c.8012C>G (p.Ala2671Gly)
c.5186C>G (p.Ala1729Gly)
n.416C>G
n.465C>G
c.1288C>G
c.5210C>G (p.Ala1737Gly)
n.426C>G
c.8171C>G (p.Ala2724Gly)
c.8063C>G (p.Ala2688Gly)
c.8045C>G (p.Ala2682Gly)
c.4817C>G (p.Ala1606Gly)
c.2747C>G (p.Ala916Gly)
c.8120C>G (p.Ala2707Gly)
c.8066C>G (p.Ala2689Gly)
c.7856C>G (p.Ala2619Gly)
c.7502C>G (p.Ala2501Gly)
c.5399C>G (p.Ala1800Gly)
n.8349C>G
c.7985C>G (p.Ala2662Gly)
c.7181C>G (p.Ala2394Gly)
c.6986C>G (p.Ala2329Gly)
n.8343C>G
n.8289C>G
n.8398C>G
5g.37153939G>TCA359474251CPLANE1n.1173C>A
c.8174C>A (p.Ala2725Glu)
c.8012C>A (p.Ala2671Glu)
c.5186C>A (p.Ala1729Glu)
n.416C>A
n.465C>A
c.1288C>A
c.5210C>A (p.Ala1737Glu)
n.426C>A
c.8171C>A (p.Ala2724Glu)
c.8063C>A (p.Ala2688Glu)
c.8045C>A (p.Ala2682Glu)
c.4817C>A (p.Ala1606Glu)
c.2747C>A (p.Ala916Glu)
c.8120C>A (p.Ala2707Glu)
c.8066C>A (p.Ala2689Glu)
c.7856C>A (p.Ala2619Glu)
c.7502C>A (p.Ala2501Glu)
c.5399C>A (p.Ala1800Glu)
n.8349C>A
c.7985C>A (p.Ala2662Glu)
c.7181C>A (p.Ala2394Glu)
c.6986C>A (p.Ala2329Glu)
n.8343C>A
n.8289C>A
n.8398C>A
5g.37153940_37153942delCA2765914095CPLANE1n.1171_1173del
c.8172_8174del (p.Ala2725del)
c.8010_8012del (p.Ala2671del)
c.5184_5186del (p.Ala1729del)
n.414_416del
n.463_465del
c.1286_1288del
c.5208_5210del (p.Ala1737del)
n.424_426del
c.8169_8171del (p.Ala2724del)
c.8061_8063del (p.Ala2688del)
c.8043_8045del (p.Ala2682del)
c.4815_4817del (p.Ala1606del)
c.2745_2747del (p.Ala916del)
c.8118_8120del (p.Ala2707del)
c.8064_8066del (p.Ala2689del)
c.7854_7856del (p.Ala2619del)
c.7500_7502del (p.Ala2501del)
c.5397_5399del (p.Ala1800del)
n.8347_8349del
c.7983_7985del (p.Ala2662del)
c.7179_7181del (p.Ala2394del)
c.6984_6986del (p.Ala2329del)
n.8341_8343del
n.8287_8289del
n.8396_8398del
5g.37153940C>ACA359474254CPLANE1n.1172G>T
c.8173G>T (p.Ala2725Ser)
c.8011G>T (p.Ala2671Ser)
c.5185G>T (p.Ala1729Ser)
n.415G>T
n.464G>T
c.1287G>T
c.5209G>T (p.Ala1737Ser)
n.425G>T
c.8170G>T (p.Ala2724Ser)
c.8062G>T (p.Ala2688Ser)
c.8044G>T (p.Ala2682Ser)
c.4816G>T (p.Ala1606Ser)
c.2746G>T (p.Ala916Ser)
c.8119G>T (p.Ala2707Ser)
c.8065G>T (p.Ala2689Ser)
c.7855G>T (p.Ala2619Ser)
c.7501G>T (p.Ala2501Ser)
c.5398G>T (p.Ala1800Ser)
n.8348G>T
c.7984G>T (p.Ala2662Ser)
c.7180G>T (p.Ala2394Ser)
c.6985G>T (p.Ala2329Ser)
n.8342G>T
n.8288G>T
n.8397G>T
5g.37153940C>GCA359474255CPLANE1n.1172G>C
c.8173G>C (p.Ala2725Pro)
c.8011G>C (p.Ala2671Pro)
c.5185G>C (p.Ala1729Pro)
n.415G>C
n.464G>C
c.1287G>C
c.5209G>C (p.Ala1737Pro)
n.425G>C
c.8170G>C (p.Ala2724Pro)
c.8062G>C (p.Ala2688Pro)
c.8044G>C (p.Ala2682Pro)
c.4816G>C (p.Ala1606Pro)
c.2746G>C (p.Ala916Pro)
c.8119G>C (p.Ala2707Pro)
c.8065G>C (p.Ala2689Pro)
c.7855G>C (p.Ala2619Pro)
c.7501G>C (p.Ala2501Pro)
c.5398G>C (p.Ala1800Pro)
n.8348G>C
c.7984G>C (p.Ala2662Pro)
c.7180G>C (p.Ala2394Pro)
c.6985G>C (p.Ala2329Pro)
n.8342G>C
n.8288G>C
n.8397G>C
5g.37153940C>TCA359474257CPLANE1n.1172G>A
c.8173G>A (p.Ala2725Thr)
c.8011G>A (p.Ala2671Thr)
c.5185G>A (p.Ala1729Thr)
n.415G>A
n.464G>A
c.1287G>A
c.5209G>A (p.Ala1737Thr)
n.425G>A
c.8170G>A (p.Ala2724Thr)
c.8062G>A (p.Ala2688Thr)
c.8044G>A (p.Ala2682Thr)
c.4816G>A (p.Ala1606Thr)
c.2746G>A (p.Ala916Thr)
c.8119G>A (p.Ala2707Thr)
c.8065G>A (p.Ala2689Thr)
c.7855G>A (p.Ala2619Thr)
c.7501G>A (p.Ala2501Thr)
c.5398G>A (p.Ala1800Thr)
n.8348G>A
c.7984G>A (p.Ala2662Thr)
c.7180G>A (p.Ala2394Thr)
c.6985G>A (p.Ala2329Thr)
n.8342G>A
n.8288G>A
n.8397G>A
 gnomAD v4
5g.37153941A>CCA444096758CPLANE1n.1171T>G
c.8172T>G (p.Ser2724=)
c.8010T>G (p.Ser2670=)
c.5184T>G (p.Ser1728=)
n.414T>G
n.463T>G
c.1286T>G
c.5208T>G (p.Ser1736=)
n.424T>G
c.8169T>G (p.Ser2723=)
c.8061T>G (p.Ser2687=)
c.8043T>G (p.Ser2681=)
c.4815T>G (p.Ser1605=)
c.2745T>G (p.Ser915=)
c.8118T>G (p.Ser2706=)
c.8064T>G (p.Ser2688=)
c.7854T>G (p.Ser2618=)
c.7500T>G (p.Ser2500=)
c.5397T>G (p.Ser1799=)
n.8347T>G
c.7983T>G (p.Ser2661=)
c.7179T>G (p.Ser2393=)
c.6984T>G (p.Ser2328=)
n.8341T>G
n.8287T>G
n.8396T>G
5g.37153941A>GCA444096759CPLANE1n.1171T>C
c.8172T>C (p.Ser2724=)
c.8010T>C (p.Ser2670=)
c.5184T>C (p.Ser1728=)
n.414T>C
n.463T>C
c.1286T>C
c.5208T>C (p.Ser1736=)
n.424T>C
c.8169T>C (p.Ser2723=)
c.8061T>C (p.Ser2687=)
c.8043T>C (p.Ser2681=)
c.4815T>C (p.Ser1605=)
c.2745T>C (p.Ser915=)
c.8118T>C (p.Ser2706=)
c.8064T>C (p.Ser2688=)
c.7854T>C (p.Ser2618=)
c.7500T>C (p.Ser2500=)
c.5397T>C (p.Ser1799=)
n.8347T>C
c.7983T>C (p.Ser2661=)
c.7179T>C (p.Ser2393=)
c.6984T>C (p.Ser2328=)
n.8341T>C
n.8287T>C
n.8396T>C
5g.37153941A>TCA444096760CPLANE1n.1171T>A
c.8172T>A (p.Ser2724=)
c.8010T>A (p.Ser2670=)
c.5184T>A (p.Ser1728=)
n.414T>A
n.463T>A
c.1286T>A
c.5208T>A (p.Ser1736=)
n.424T>A
c.8169T>A (p.Ser2723=)
c.8061T>A (p.Ser2687=)
c.8043T>A (p.Ser2681=)
c.4815T>A (p.Ser1605=)
c.2745T>A (p.Ser915=)
c.8118T>A (p.Ser2706=)
c.8064T>A (p.Ser2688=)
c.7854T>A (p.Ser2618=)
c.7500T>A (p.Ser2500=)
c.5397T>A (p.Ser1799=)
n.8347T>A
c.7983T>A (p.Ser2661=)
c.7179T>A (p.Ser2393=)
c.6984T>A (p.Ser2328=)
n.8341T>A
n.8287T>A
n.8396T>A
5g.37153943_37153944delCA2578290618CPLANE1n.1170_1171del
c.8171_8172del (p.Ser2724CysfsTer?)
c.8009_8010del (p.Ser2670CysfsTer?)
c.5183_5184del (p.Ser1728CysfsTer?)
n.413_414del
n.462_463del
c.1285_1286del
c.5207_5208del (p.Ser1736CysfsTer?)
n.423_424del
c.8168_8169del (p.Ser2723CysfsTer?)
c.8060_8061del (p.Ser2687CysfsTer?)
c.8042_8043del (p.Ser2681CysfsTer?)
c.4814_4815del (p.Ser1605CysfsTer?)
c.2744_2745del (p.Ser915CysfsTer?)
c.8117_8118del (p.Ser2706CysfsTer?)
c.8063_8064del (p.Ser2688CysfsTer?)
c.7853_7854del (p.Ser2618CysfsTer?)
c.7499_7500del (p.Ser2500CysfsTer?)
c.5396_5397del (p.Ser1799CysfsTer?)
n.8346_8347del
c.7982_7983del (p.Ser2661CysfsTer?)
c.7178_7179del (p.Ser2393CysfsTer?)
c.6983_6984del (p.Ser2328CysfsTer?)
n.8340_8341del
n.8286_8287del
n.8395_8396del
5g.37153942G>ACA359474258CPLANE1n.1170C>T
c.8171C>T (p.Ser2724Phe)
c.8009C>T (p.Ser2670Phe)
c.5183C>T (p.Ser1728Phe)
n.413C>T
n.462C>T
c.1285C>T
c.5207C>T (p.Ser1736Phe)
n.423C>T
c.8168C>T (p.Ser2723Phe)
c.8060C>T (p.Ser2687Phe)
c.8042C>T (p.Ser2681Phe)
c.4814C>T (p.Ser1605Phe)
c.2744C>T (p.Ser915Phe)
c.8117C>T (p.Ser2706Phe)
c.8063C>T (p.Ser2688Phe)
c.7853C>T (p.Ser2618Phe)
c.7499C>T (p.Ser2500Phe)
c.5396C>T (p.Ser1799Phe)
n.8346C>T
c.7982C>T (p.Ser2661Phe)
c.7178C>T (p.Ser2393Phe)
c.6983C>T (p.Ser2328Phe)
n.8340C>T
n.8286C>T
n.8395C>T
5g.37153942G>CCA359474262CPLANE1n.1170C>G
c.8171C>G (p.Ser2724Cys)
c.8009C>G (p.Ser2670Cys)
c.5183C>G (p.Ser1728Cys)
n.413C>G
n.462C>G
c.1285C>G
c.5207C>G (p.Ser1736Cys)
n.423C>G
c.8168C>G (p.Ser2723Cys)
c.8060C>G (p.Ser2687Cys)
c.8042C>G (p.Ser2681Cys)
c.4814C>G (p.Ser1605Cys)
c.2744C>G (p.Ser915Cys)
c.8117C>G (p.Ser2706Cys)
c.8063C>G (p.Ser2688Cys)
c.7853C>G (p.Ser2618Cys)
c.7499C>G (p.Ser2500Cys)
c.5396C>G (p.Ser1799Cys)
n.8346C>G
c.7982C>G (p.Ser2661Cys)
c.7178C>G (p.Ser2393Cys)
c.6983C>G (p.Ser2328Cys)
n.8340C>G
n.8286C>G
n.8395C>G
5g.37153942G>TCA359474260CPLANE1n.1170C>A
c.8171C>A (p.Ser2724Tyr)
c.8009C>A (p.Ser2670Tyr)
c.5183C>A (p.Ser1728Tyr)
n.413C>A
n.462C>A
c.1285C>A
c.5207C>A (p.Ser1736Tyr)
n.423C>A
c.8168C>A (p.Ser2723Tyr)
c.8060C>A (p.Ser2687Tyr)
c.8042C>A (p.Ser2681Tyr)
c.4814C>A (p.Ser1605Tyr)
c.2744C>A (p.Ser915Tyr)
c.8117C>A (p.Ser2706Tyr)
c.8063C>A (p.Ser2688Tyr)
c.7853C>A (p.Ser2618Tyr)
c.7499C>A (p.Ser2500Tyr)
c.5396C>A (p.Ser1799Tyr)
n.8346C>A
c.7982C>A (p.Ser2661Tyr)
c.7178C>A (p.Ser2393Tyr)
c.6983C>A (p.Ser2328Tyr)
n.8340C>A
n.8286C>A
n.8395C>A
5g.37153943A>CCA359474263CPLANE1n.1169T>G
c.8170T>G (p.Ser2724Ala)
c.8008T>G (p.Ser2670Ala)
c.5182T>G (p.Ser1728Ala)
n.412T>G
n.461T>G
c.1284T>G
c.5206T>G (p.Ser1736Ala)
n.422T>G
c.8167T>G (p.Ser2723Ala)
c.8059T>G (p.Ser2687Ala)
c.8041T>G (p.Ser2681Ala)
c.4813T>G (p.Ser1605Ala)
c.2743T>G (p.Ser915Ala)
c.8116T>G (p.Ser2706Ala)
c.8062T>G (p.Ser2688Ala)
c.7852T>G (p.Ser2618Ala)
c.7498T>G (p.Ser2500Ala)
c.5395T>G (p.Ser1799Ala)
n.8345T>G
c.7981T>G (p.Ser2661Ala)
c.7177T>G (p.Ser2393Ala)
c.6982T>G (p.Ser2328Ala)
n.8339T>G
n.8285T>G
n.8394T>G
5g.37153943A>GCA359474264CPLANE1n.1169T>C
c.8170T>C (p.Ser2724Pro)
c.8008T>C (p.Ser2670Pro)
c.5182T>C (p.Ser1728Pro)
n.412T>C
n.461T>C
c.1284T>C
c.5206T>C (p.Ser1736Pro)
n.422T>C
c.8167T>C (p.Ser2723Pro)
c.8059T>C (p.Ser2687Pro)
c.8041T>C (p.Ser2681Pro)
c.4813T>C (p.Ser1605Pro)
c.2743T>C (p.Ser915Pro)
c.8116T>C (p.Ser2706Pro)
c.8062T>C (p.Ser2688Pro)
c.7852T>C (p.Ser2618Pro)
c.7498T>C (p.Ser2500Pro)
c.5395T>C (p.Ser1799Pro)
n.8345T>C
c.7981T>C (p.Ser2661Pro)
c.7177T>C (p.Ser2393Pro)
c.6982T>C (p.Ser2328Pro)
n.8339T>C
n.8285T>C
n.8394T>C
5g.37153943A>TCA359474265CPLANE1n.1169T>A
c.8170T>A (p.Ser2724Thr)
c.8008T>A (p.Ser2670Thr)
c.5182T>A (p.Ser1728Thr)
n.412T>A
n.461T>A
c.1284T>A
c.5206T>A (p.Ser1736Thr)
n.422T>A
c.8167T>A (p.Ser2723Thr)
c.8059T>A (p.Ser2687Thr)
c.8041T>A (p.Ser2681Thr)
c.4813T>A (p.Ser1605Thr)
c.2743T>A (p.Ser915Thr)
c.8116T>A (p.Ser2706Thr)
c.8062T>A (p.Ser2688Thr)
c.7852T>A (p.Ser2618Thr)
c.7498T>A (p.Ser2500Thr)
c.5395T>A (p.Ser1799Thr)
n.8345T>A
c.7981T>A (p.Ser2661Thr)
c.7177T>A (p.Ser2393Thr)
c.6982T>A (p.Ser2328Thr)
n.8339T>A
n.8285T>A
n.8394T>A
5g.37153944G>ACA444096762CPLANE1n.1168C>T
c.8169C>T (p.Asp2723=)
c.8007C>T (p.Asp2669=)
c.5181C>T (p.Asp1727=)
n.411C>T
n.460C>T
c.1283C>T
c.5205C>T (p.Asp1735=)
n.421C>T
c.8166C>T (p.Asp2722=)
c.8058C>T (p.Asp2686=)
c.8040C>T (p.Asp2680=)
c.4812C>T (p.Asp1604=)
c.2742C>T (p.Asp914=)
c.8115C>T (p.Asp2705=)
c.8061C>T (p.Asp2687=)
c.7851C>T (p.Asp2617=)
c.7497C>T (p.Asp2499=)
c.5394C>T (p.Asp1798=)
n.8344C>T
c.7980C>T (p.Asp2660=)
c.7176C>T (p.Asp2392=)
c.6981C>T (p.Asp2327=)
n.8338C>T
n.8284C>T
n.8393C>T
5g.37153944G>CCA359474267CPLANE1n.1168C>G
c.8169C>G (p.Asp2723Glu)
c.8007C>G (p.Asp2669Glu)
c.5181C>G (p.Asp1727Glu)
n.411C>G
n.460C>G
c.1283C>G
c.5205C>G (p.Asp1735Glu)
n.421C>G
c.8166C>G (p.Asp2722Glu)
c.8058C>G (p.Asp2686Glu)
c.8040C>G (p.Asp2680Glu)
c.4812C>G (p.Asp1604Glu)
c.2742C>G (p.Asp914Glu)
c.8115C>G (p.Asp2705Glu)
c.8061C>G (p.Asp2687Glu)
c.7851C>G (p.Asp2617Glu)
c.7497C>G (p.Asp2499Glu)
c.5394C>G (p.Asp1798Glu)
n.8344C>G
c.7980C>G (p.Asp2660Glu)
c.7176C>G (p.Asp2392Glu)
c.6981C>G (p.Asp2327Glu)
n.8338C>G
n.8284C>G
n.8393C>G
5g.37153944G>TCA359474268CPLANE1n.1168C>A
c.8169C>A (p.Asp2723Glu)
c.8007C>A (p.Asp2669Glu)
c.5181C>A (p.Asp1727Glu)
n.411C>A
n.460C>A
c.1283C>A
c.5205C>A (p.Asp1735Glu)
n.421C>A
c.8166C>A (p.Asp2722Glu)
c.8058C>A (p.Asp2686Glu)
c.8040C>A (p.Asp2680Glu)
c.4812C>A (p.Asp1604Glu)
c.2742C>A (p.Asp914Glu)
c.8115C>A (p.Asp2705Glu)
c.8061C>A (p.Asp2687Glu)
c.7851C>A (p.Asp2617Glu)
c.7497C>A (p.Asp2499Glu)
c.5394C>A (p.Asp1798Glu)
n.8344C>A
c.7980C>A (p.Asp2660Glu)
c.7176C>A (p.Asp2392Glu)
c.6981C>A (p.Asp2327Glu)
n.8338C>A
n.8284C>A
n.8393C>A
5g.37153945T>ACA359474269CPLANE1n.1167A>T
c.8168A>T (p.Asp2723Val)
c.8006A>T (p.Asp2669Val)
c.5180A>T (p.Asp1727Val)
n.410A>T
n.459A>T
c.1282A>T
c.5204A>T (p.Asp1735Val)
n.420A>T
c.8165A>T (p.Asp2722Val)
c.8057A>T (p.Asp2686Val)
c.8039A>T (p.Asp2680Val)
c.4811A>T (p.Asp1604Val)
c.2741A>T (p.Asp914Val)
c.8114A>T (p.Asp2705Val)
c.8060A>T (p.Asp2687Val)
c.7850A>T (p.Asp2617Val)
c.7496A>T (p.Asp2499Val)
c.5393A>T (p.Asp1798Val)
n.8343A>T
c.7979A>T (p.Asp2660Val)
c.7175A>T (p.Asp2392Val)
c.6980A>T (p.Asp2327Val)
n.8337A>T
n.8283A>T
n.8392A>T
5g.37153945T>CCA359474270CPLANE1n.1167A>G
c.8168A>G (p.Asp2723Gly)
c.8006A>G (p.Asp2669Gly)
c.5180A>G (p.Asp1727Gly)
n.410A>G
n.459A>G
c.1282A>G
c.5204A>G (p.Asp1735Gly)
n.420A>G
c.8165A>G (p.Asp2722Gly)
c.8057A>G (p.Asp2686Gly)
c.8039A>G (p.Asp2680Gly)
c.4811A>G (p.Asp1604Gly)
c.2741A>G (p.Asp914Gly)
c.8114A>G (p.Asp2705Gly)
c.8060A>G (p.Asp2687Gly)
c.7850A>G (p.Asp2617Gly)
c.7496A>G (p.Asp2499Gly)
c.5393A>G (p.Asp1798Gly)
n.8343A>G
c.7979A>G (p.Asp2660Gly)
c.7175A>G (p.Asp2392Gly)
c.6980A>G (p.Asp2327Gly)
n.8337A>G
n.8283A>G
n.8392A>G
5g.37153945T>GCA359474271CPLANE1n.1167A>C
c.8168A>C (p.Asp2723Ala)
c.8006A>C (p.Asp2669Ala)
c.5180A>C (p.Asp1727Ala)
n.410A>C
n.459A>C
c.1282A>C
c.5204A>C (p.Asp1735Ala)
n.420A>C
c.8165A>C (p.Asp2722Ala)
c.8057A>C (p.Asp2686Ala)
c.8039A>C (p.Asp2680Ala)
c.4811A>C (p.Asp1604Ala)
c.2741A>C (p.Asp914Ala)
c.8114A>C (p.Asp2705Ala)
c.8060A>C (p.Asp2687Ala)
c.7850A>C (p.Asp2617Ala)
c.7496A>C (p.Asp2499Ala)
c.5393A>C (p.Asp1798Ala)
n.8343A>C
c.7979A>C (p.Asp2660Ala)
c.7175A>C (p.Asp2392Ala)
c.6980A>C (p.Asp2327Ala)
n.8337A>C
n.8283A>C
n.8392A>C
5g.37153946C>ACA359474272CPLANE1n.1166G>T
c.8167G>T (p.Asp2723Tyr)
c.8005G>T (p.Asp2669Tyr)
c.5179G>T (p.Asp1727Tyr)
n.409G>T
n.458G>T
c.1281G>T
c.5203G>T (p.Asp1735Tyr)
n.419G>T
c.8164G>T (p.Asp2722Tyr)
c.8056G>T (p.Asp2686Tyr)
c.8038G>T (p.Asp2680Tyr)
c.4810G>T (p.Asp1604Tyr)
c.2740G>T (p.Asp914Tyr)
c.8113G>T (p.Asp2705Tyr)
c.8059G>T (p.Asp2687Tyr)
c.7849G>T (p.Asp2617Tyr)
c.7495G>T (p.Asp2499Tyr)
c.5392G>T (p.Asp1798Tyr)
n.8342G>T
c.7978G>T (p.Asp2660Tyr)
c.7174G>T (p.Asp2392Tyr)
c.6979G>T (p.Asp2327Tyr)
n.8336G>T
n.8282G>T
n.8391G>T
5g.37153946C>GCA359474274CPLANE1n.1166G>C
c.8167G>C (p.Asp2723His)
c.8005G>C (p.Asp2669His)
c.5179G>C (p.Asp1727His)
n.409G>C
n.458G>C
c.1281G>C
c.5203G>C (p.Asp1735His)
n.419G>C
c.8164G>C (p.Asp2722His)
c.8056G>C (p.Asp2686His)
c.8038G>C (p.Asp2680His)
c.4810G>C (p.Asp1604His)
c.2740G>C (p.Asp914His)
c.8113G>C (p.Asp2705His)
c.8059G>C (p.Asp2687His)
c.7849G>C (p.Asp2617His)
c.7495G>C (p.Asp2499His)
c.5392G>C (p.Asp1798His)
n.8342G>C
c.7978G>C (p.Asp2660His)
c.7174G>C (p.Asp2392His)
c.6979G>C (p.Asp2327His)
n.8336G>C
n.8282G>C
n.8391G>C
5g.37153946C>TCA359474276CPLANE1n.1166G>A
c.8167G>A (p.Asp2723Asn)
c.8005G>A (p.Asp2669Asn)
c.5179G>A (p.Asp1727Asn)
n.409G>A
n.458G>A
c.1281G>A
c.5203G>A (p.Asp1735Asn)
n.419G>A
c.8164G>A (p.Asp2722Asn)
c.8056G>A (p.Asp2686Asn)
c.8038G>A (p.Asp2680Asn)
c.4810G>A (p.Asp1604Asn)
c.2740G>A (p.Asp914Asn)
c.8113G>A (p.Asp2705Asn)
c.8059G>A (p.Asp2687Asn)
c.7849G>A (p.Asp2617Asn)
c.7495G>A (p.Asp2499Asn)
c.5392G>A (p.Asp1798Asn)
n.8342G>A
c.7978G>A (p.Asp2660Asn)
c.7174G>A (p.Asp2392Asn)
c.6979G>A (p.Asp2327Asn)
n.8336G>A
n.8282G>A
n.8391G>A
5g.37153947T>ACA444096763CPLANE1n.1165A>T
c.8166A>T (p.Ser2722=)
c.8004A>T (p.Ser2668=)
c.5178A>T (p.Ser1726=)
n.408A>T
n.457A>T
c.1280A>T
c.5202A>T (p.Ser1734=)
n.418A>T
c.8163A>T (p.Ser2721=)
c.8055A>T (p.Ser2685=)
c.8037A>T (p.Ser2679=)
c.4809A>T (p.Ser1603=)
c.2739A>T (p.Ser913=)
c.8112A>T (p.Ser2704=)
c.8058A>T (p.Ser2686=)
c.7848A>T (p.Ser2616=)
c.7494A>T (p.Ser2498=)
c.5391A>T (p.Ser1797=)
n.8341A>T
c.7977A>T (p.Ser2659=)
c.7173A>T (p.Ser2391=)
c.6978A>T (p.Ser2326=)
n.8335A>T
n.8281A>T
n.8390A>T
5g.37153947T>CCA444096764CPLANE1n.1165A>G
c.8166A>G (p.Ser2722=)
c.8004A>G (p.Ser2668=)
c.5178A>G (p.Ser1726=)
n.408A>G
n.457A>G
c.1280A>G
c.5202A>G (p.Ser1734=)
n.418A>G
c.8163A>G (p.Ser2721=)
c.8055A>G (p.Ser2685=)
c.8037A>G (p.Ser2679=)
c.4809A>G (p.Ser1603=)
c.2739A>G (p.Ser913=)
c.8112A>G (p.Ser2704=)
c.8058A>G (p.Ser2686=)
c.7848A>G (p.Ser2616=)
c.7494A>G (p.Ser2498=)
c.5391A>G (p.Ser1797=)
n.8341A>G
c.7977A>G (p.Ser2659=)
c.7173A>G (p.Ser2391=)
c.6978A>G (p.Ser2326=)
n.8335A>G
n.8281A>G
n.8390A>G
 gnomAD v4
5g.37153947T>GCA444096765CPLANE1n.1165A>C
c.8166A>C (p.Ser2722=)
c.8004A>C (p.Ser2668=)
c.5178A>C (p.Ser1726=)
n.408A>C
n.457A>C
c.1280A>C
c.5202A>C (p.Ser1734=)
n.418A>C
c.8163A>C (p.Ser2721=)
c.8055A>C (p.Ser2685=)
c.8037A>C (p.Ser2679=)
c.4809A>C (p.Ser1603=)
c.2739A>C (p.Ser913=)
c.8112A>C (p.Ser2704=)
c.8058A>C (p.Ser2686=)
c.7848A>C (p.Ser2616=)
c.7494A>C (p.Ser2498=)
c.5391A>C (p.Ser1797=)
n.8341A>C
c.7977A>C (p.Ser2659=)
c.7173A>C (p.Ser2391=)
c.6978A>C (p.Ser2326=)
n.8335A>C
n.8281A>C
n.8390A>C
5g.37153948G>ACA359474281CPLANE1n.1164C>T
c.8165C>T (p.Ser2722Leu)
c.8003C>T (p.Ser2668Leu)
c.5177C>T (p.Ser1726Leu)
n.407C>T
n.456C>T
c.1279C>T
c.5201C>T (p.Ser1734Leu)
n.417C>T
c.8162C>T (p.Ser2721Leu)
c.8054C>T (p.Ser2685Leu)
c.8036C>T (p.Ser2679Leu)
c.4808C>T (p.Ser1603Leu)
c.2738C>T (p.Ser913Leu)
c.8111C>T (p.Ser2704Leu)
c.8057C>T (p.Ser2686Leu)
c.7847C>T (p.Ser2616Leu)
c.7493C>T (p.Ser2498Leu)
c.5390C>T (p.Ser1797Leu)
n.8340C>T
c.7976C>T (p.Ser2659Leu)
c.7172C>T (p.Ser2391Leu)
c.6977C>T (p.Ser2326Leu)
n.8334C>T
n.8280C>T
n.8389C>T
 gnomAD v4
5g.37153948G>CCA359474279CPLANE1n.1164C>G
c.8165C>G (p.Ser2722Ter)
c.8003C>G (p.Ser2668Ter)
c.5177C>G (p.Ser1726Ter)
n.407C>G
n.456C>G
c.1279C>G
c.5201C>G (p.Ser1734Ter)
n.417C>G
c.8162C>G (p.Ser2721Ter)
c.8054C>G (p.Ser2685Ter)
c.8036C>G (p.Ser2679Ter)
c.4808C>G (p.Ser1603Ter)
c.2738C>G (p.Ser913Ter)
c.8111C>G (p.Ser2704Ter)
c.8057C>G (p.Ser2686Ter)
c.7847C>G (p.Ser2616Ter)
c.7493C>G (p.Ser2498Ter)
c.5390C>G (p.Ser1797Ter)
n.8340C>G
c.7976C>G (p.Ser2659Ter)
c.7172C>G (p.Ser2391Ter)
c.6977C>G (p.Ser2326Ter)
n.8334C>G
n.8280C>G
n.8389C>G
5g.37153948G>TCA359474277CPLANE1n.1164C>A
c.8165C>A (p.Ser2722Ter)
c.8003C>A (p.Ser2668Ter)
c.5177C>A (p.Ser1726Ter)
n.407C>A
n.456C>A
c.1279C>A
c.5201C>A (p.Ser1734Ter)
n.417C>A
c.8162C>A (p.Ser2721Ter)
c.8054C>A (p.Ser2685Ter)
c.8036C>A (p.Ser2679Ter)
c.4808C>A (p.Ser1603Ter)
c.2738C>A (p.Ser913Ter)
c.8111C>A (p.Ser2704Ter)
c.8057C>A (p.Ser2686Ter)
c.7847C>A (p.Ser2616Ter)
c.7493C>A (p.Ser2498Ter)
c.5390C>A (p.Ser1797Ter)
n.8340C>A
c.7976C>A (p.Ser2659Ter)
c.7172C>A (p.Ser2391Ter)
c.6977C>A (p.Ser2326Ter)
n.8334C>A
n.8280C>A
n.8389C>A
5g.37153949A>CCA359474282CPLANE1n.1163T>G
c.8164T>G (p.Ser2722Ala)
c.8002T>G (p.Ser2668Ala)
c.5176T>G (p.Ser1726Ala)
n.406T>G
n.455T>G
c.1278T>G
c.5200T>G (p.Ser1734Ala)
n.416T>G
c.8161T>G (p.Ser2721Ala)
c.8053T>G (p.Ser2685Ala)
c.8035T>G (p.Ser2679Ala)
c.4807T>G (p.Ser1603Ala)
c.2737T>G (p.Ser913Ala)
c.8110T>G (p.Ser2704Ala)
c.8056T>G (p.Ser2686Ala)
c.7846T>G (p.Ser2616Ala)
c.7492T>G (p.Ser2498Ala)
c.5389T>G (p.Ser1797Ala)
n.8339T>G
c.7975T>G (p.Ser2659Ala)
c.7171T>G (p.Ser2391Ala)
c.6976T>G (p.Ser2326Ala)
n.8333T>G
n.8279T>G
n.8388T>G
5g.37153949A>GCA359474284CPLANE1n.1163T>C
c.8164T>C (p.Ser2722Pro)
c.8002T>C (p.Ser2668Pro)
c.5176T>C (p.Ser1726Pro)
n.406T>C
n.455T>C
c.1278T>C
c.5200T>C (p.Ser1734Pro)
n.416T>C
c.8161T>C (p.Ser2721Pro)
c.8053T>C (p.Ser2685Pro)
c.8035T>C (p.Ser2679Pro)
c.4807T>C (p.Ser1603Pro)
c.2737T>C (p.Ser913Pro)
c.8110T>C (p.Ser2704Pro)
c.8056T>C (p.Ser2686Pro)
c.7846T>C (p.Ser2616Pro)
c.7492T>C (p.Ser2498Pro)
c.5389T>C (p.Ser1797Pro)
n.8339T>C
c.7975T>C (p.Ser2659Pro)
c.7171T>C (p.Ser2391Pro)
c.6976T>C (p.Ser2326Pro)
n.8333T>C
n.8279T>C
n.8388T>C
5g.37153949A>TCA359474286CPLANE1n.1163T>A
c.8164T>A (p.Ser2722Thr)
c.8002T>A (p.Ser2668Thr)
c.5176T>A (p.Ser1726Thr)
n.406T>A
n.455T>A
c.1278T>A
c.5200T>A (p.Ser1734Thr)
n.416T>A
c.8161T>A (p.Ser2721Thr)
c.8053T>A (p.Ser2685Thr)
c.8035T>A (p.Ser2679Thr)
c.4807T>A (p.Ser1603Thr)
c.2737T>A (p.Ser913Thr)
c.8110T>A (p.Ser2704Thr)
c.8056T>A (p.Ser2686Thr)
c.7846T>A (p.Ser2616Thr)
c.7492T>A (p.Ser2498Thr)
c.5389T>A (p.Ser1797Thr)
n.8339T>A
c.7975T>A (p.Ser2659Thr)
c.7171T>A (p.Ser2391Thr)
c.6976T>A (p.Ser2326Thr)
n.8333T>A
n.8279T>A
n.8388T>A
5g.37153950delCA2695204264CPLANE1n.1162del
c.8163del (p.Lys2721AsnfsTer?)
c.8001del (p.Lys2667AsnfsTer?)
c.5175del (p.Lys1725AsnfsTer?)
n.405del
n.454del
c.1277del
c.5199del (p.Lys1733AsnfsTer?)
n.415del
c.8160del (p.Lys2720AsnfsTer?)
c.8052del (p.Lys2684AsnfsTer?)
c.8034del (p.Lys2678AsnfsTer?)
c.4806del (p.Lys1602AsnfsTer?)
c.2736del (p.Lys912AsnfsTer?)
c.8109del (p.Lys2703AsnfsTer?)
c.8055del (p.Lys2685AsnfsTer?)
c.7845del (p.Lys2615AsnfsTer?)
c.7491del (p.Lys2497AsnfsTer?)
c.5388del (p.Lys1796AsnfsTer?)
n.8338del
c.7974del (p.Lys2658AsnfsTer?)
c.7170del (p.Lys2390AsnfsTer?)
c.6975del (p.Lys2325AsnfsTer?)
n.8332del
n.8278del
n.8387del
5g.37153950C>ACA359474288CPLANE1n.1162G>T
c.8163G>T (p.Lys2721Asn)
c.8001G>T (p.Lys2667Asn)
c.5175G>T (p.Lys1725Asn)
n.405G>T
n.454G>T
c.1277G>T
c.5199G>T (p.Lys1733Asn)
n.415G>T
c.8160G>T (p.Lys2720Asn)
c.8052G>T (p.Lys2684Asn)
c.8034G>T (p.Lys2678Asn)
c.4806G>T (p.Lys1602Asn)
c.2736G>T (p.Lys912Asn)
c.8109G>T (p.Lys2703Asn)
c.8055G>T (p.Lys2685Asn)
c.7845G>T (p.Lys2615Asn)
c.7491G>T (p.Lys2497Asn)
c.5388G>T (p.Lys1796Asn)
n.8338G>T
c.7974G>T (p.Lys2658Asn)
c.7170G>T (p.Lys2390Asn)
c.6975G>T (p.Lys2325Asn)
n.8332G>T
n.8278G>T
n.8387G>T
5g.37153950C=CA1539651408CPLANE1n.1162G=
c.8163G= (p.Lys2721=)
c.8001G= (p.Lys2667=)
c.5175G= (p.Lys1725=)
n.405G=
n.454G=
c.1277G=
c.5199G= (p.Lys1733=)
n.415G=
c.8160G= (p.Lys2720=)
c.8052G= (p.Lys2684=)
c.8034G= (p.Lys2678=)
c.4806G= (p.Lys1602=)
c.2736G= (p.Lys912=)
c.8109G= (p.Lys2703=)
c.8055G= (p.Lys2685=)
c.7845G= (p.Lys2615=)
c.7491G= (p.Lys2497=)
c.5388G= (p.Lys1796=)
n.8338G=
c.7974G= (p.Lys2658=)
c.7170G= (p.Lys2390=)
c.6975G= (p.Lys2325=)
n.8332G=
n.8278G=
n.8387G=
5g.37153950C>GCA359474289CPLANE1n.1162G>C
c.8163G>C (p.Lys2721Asn)
c.8001G>C (p.Lys2667Asn)
c.5175G>C (p.Lys1725Asn)
n.405G>C
n.454G>C
c.1277G>C
c.5199G>C (p.Lys1733Asn)
n.415G>C
c.8160G>C (p.Lys2720Asn)
c.8052G>C (p.Lys2684Asn)
c.8034G>C (p.Lys2678Asn)
c.4806G>C (p.Lys1602Asn)
c.2736G>C (p.Lys912Asn)
c.8109G>C (p.Lys2703Asn)
c.8055G>C (p.Lys2685Asn)
c.7845G>C (p.Lys2615Asn)
c.7491G>C (p.Lys2497Asn)
c.5388G>C (p.Lys1796Asn)
n.8338G>C
c.7974G>C (p.Lys2658Asn)
c.7170G>C (p.Lys2390Asn)
c.6975G>C (p.Lys2325Asn)
n.8332G>C
n.8278G>C
n.8387G>C
5g.37153950C>TCA117043081CPLANE1n.1162G>A
c.8163G>A (p.Lys2721=)
c.8001G>A (p.Lys2667=)
c.5175G>A (p.Lys1725=)
n.405G>A
n.454G>A
c.1277G>A
c.5199G>A (p.Lys1733=)
n.415G>A
c.8160G>A (p.Lys2720=)
c.8052G>A (p.Lys2684=)
c.8034G>A (p.Lys2678=)
c.4806G>A (p.Lys1602=)
c.2736G>A (p.Lys912=)
c.8109G>A (p.Lys2703=)
c.8055G>A (p.Lys2685=)
c.7845G>A (p.Lys2615=)
c.7491G>A (p.Lys2497=)
c.5388G>A (p.Lys1796=)
n.8338G>A
c.7974G>A (p.Lys2658=)
c.7170G>A (p.Lys2390=)
c.6975G>A (p.Lys2325=)
n.8332G>A
n.8278G>A
n.8387G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.37153951T>ACA359474292CPLANE1n.1161A>T
c.8162A>T (p.Lys2721Met)
c.8000A>T (p.Lys2667Met)
c.5174A>T (p.Lys1725Met)
n.404A>T
n.453A>T
c.1276A>T
c.5198A>T (p.Lys1733Met)
n.414A>T
c.8159A>T (p.Lys2720Met)
c.8051A>T (p.Lys2684Met)
c.8033A>T (p.Lys2678Met)
c.4805A>T (p.Lys1602Met)
c.2735A>T (p.Lys912Met)
c.8108A>T (p.Lys2703Met)
c.8054A>T (p.Lys2685Met)
c.7844A>T (p.Lys2615Met)
c.7490A>T (p.Lys2497Met)
c.5387A>T (p.Lys1796Met)
n.8337A>T
c.7973A>T (p.Lys2658Met)
c.7169A>T (p.Lys2390Met)
c.6974A>T (p.Lys2325Met)
n.8331A>T
n.8277A>T
n.8386A>T
5g.37153951T>CCA359474294CPLANE1n.1161A>G
c.8162A>G (p.Lys2721Arg)
c.8000A>G (p.Lys2667Arg)
c.5174A>G (p.Lys1725Arg)
n.404A>G
n.453A>G
c.1276A>G
c.5198A>G (p.Lys1733Arg)
n.414A>G
c.8159A>G (p.Lys2720Arg)
c.8051A>G (p.Lys2684Arg)
c.8033A>G (p.Lys2678Arg)
c.4805A>G (p.Lys1602Arg)
c.2735A>G (p.Lys912Arg)
c.8108A>G (p.Lys2703Arg)
c.8054A>G (p.Lys2685Arg)
c.7844A>G (p.Lys2615Arg)
c.7490A>G (p.Lys2497Arg)
c.5387A>G (p.Lys1796Arg)
n.8337A>G
c.7973A>G (p.Lys2658Arg)
c.7169A>G (p.Lys2390Arg)
c.6974A>G (p.Lys2325Arg)
n.8331A>G
n.8277A>G
n.8386A>G
5g.37153951T>GCA359474295CPLANE1n.1161A>C
c.8162A>C (p.Lys2721Thr)
c.8000A>C (p.Lys2667Thr)
c.5174A>C (p.Lys1725Thr)
n.404A>C
n.453A>C
c.1276A>C
c.5198A>C (p.Lys1733Thr)
n.414A>C
c.8159A>C (p.Lys2720Thr)
c.8051A>C (p.Lys2684Thr)
c.8033A>C (p.Lys2678Thr)
c.4805A>C (p.Lys1602Thr)
c.2735A>C (p.Lys912Thr)
c.8108A>C (p.Lys2703Thr)
c.8054A>C (p.Lys2685Thr)
c.7844A>C (p.Lys2615Thr)
c.7490A>C (p.Lys2497Thr)
c.5387A>C (p.Lys1796Thr)
n.8337A>C
c.7973A>C (p.Lys2658Thr)
c.7169A>C (p.Lys2390Thr)
c.6974A>C (p.Lys2325Thr)
n.8331A>C
n.8277A>C
n.8386A>C
5g.37153952T>ACA359474297CPLANE1n.1160A>T
c.8161A>T (p.Lys2721Ter)
c.7999A>T (p.Lys2667Ter)
c.5173A>T (p.Lys1725Ter)
n.403A>T
n.452A>T
c.1275A>T
c.5197A>T (p.Lys1733Ter)
n.413A>T
c.8158A>T (p.Lys2720Ter)
c.8050A>T (p.Lys2684Ter)
c.8032A>T (p.Lys2678Ter)
c.4804A>T (p.Lys1602Ter)
c.2734A>T (p.Lys912Ter)
c.8107A>T (p.Lys2703Ter)
c.8053A>T (p.Lys2685Ter)
c.7843A>T (p.Lys2615Ter)
c.7489A>T (p.Lys2497Ter)
c.5386A>T (p.Lys1796Ter)
n.8336A>T
c.7972A>T (p.Lys2658Ter)
c.7168A>T (p.Lys2390Ter)
c.6973A>T (p.Lys2325Ter)
n.8330A>T
n.8276A>T
n.8385A>T
5g.37153952T>CCA3237850CPLANE1n.1160A>G
c.8161A>G (p.Lys2721Glu)
c.7999A>G (p.Lys2667Glu)
c.5173A>G (p.Lys1725Glu)
n.403A>G
n.452A>G
c.1275A>G
c.5197A>G (p.Lys1733Glu)
n.413A>G
c.8158A>G (p.Lys2720Glu)
c.8050A>G (p.Lys2684Glu)
c.8032A>G (p.Lys2678Glu)
c.4804A>G (p.Lys1602Glu)
c.2734A>G (p.Lys912Glu)
c.8107A>G (p.Lys2703Glu)
c.8053A>G (p.Lys2685Glu)
c.7843A>G (p.Lys2615Glu)
c.7489A>G (p.Lys2497Glu)
c.5386A>G (p.Lys1796Glu)
n.8336A>G
c.7972A>G (p.Lys2658Glu)
c.7168A>G (p.Lys2390Glu)
c.6973A>G (p.Lys2325Glu)
n.8330A>G
n.8276A>G
n.8385A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37153952T>GCA359474299CPLANE1n.1160A>C
c.8161A>C (p.Lys2721Gln)
c.7999A>C (p.Lys2667Gln)
c.5173A>C (p.Lys1725Gln)
n.403A>C
n.452A>C
c.1275A>C
c.5197A>C (p.Lys1733Gln)
n.413A>C
c.8158A>C (p.Lys2720Gln)
c.8050A>C (p.Lys2684Gln)
c.8032A>C (p.Lys2678Gln)
c.4804A>C (p.Lys1602Gln)
c.2734A>C (p.Lys912Gln)
c.8107A>C (p.Lys2703Gln)
c.8053A>C (p.Lys2685Gln)
c.7843A>C (p.Lys2615Gln)
c.7489A>C (p.Lys2497Gln)
c.5386A>C (p.Lys1796Gln)
n.8336A>C
c.7972A>C (p.Lys2658Gln)
c.7168A>C (p.Lys2390Gln)
c.6973A>C (p.Lys2325Gln)
n.8330A>C
n.8276A>C
n.8385A>C
5g.37153952T=CA1539651412CPLANE1n.1160A=
c.8161A= (p.Lys2721=)
c.7999A= (p.Lys2667=)
c.5173A= (p.Lys1725=)
n.403A=
n.452A=
c.1275A=
c.5197A= (p.Lys1733=)
n.413A=
c.8158A= (p.Lys2720=)
c.8050A= (p.Lys2684=)
c.8032A= (p.Lys2678=)
c.4804A= (p.Lys1602=)
c.2734A= (p.Lys912=)
c.8107A= (p.Lys2703=)
c.8053A= (p.Lys2685=)
c.7843A= (p.Lys2615=)
c.7489A= (p.Lys2497=)
c.5386A= (p.Lys1796=)
n.8336A=
c.7972A= (p.Lys2658=)
c.7168A= (p.Lys2390=)
c.6973A= (p.Lys2325=)
n.8330A=
n.8276A=
n.8385A=
5g.37153953T>ACA444096770CPLANE1n.1159A>T
c.8160A>T (p.Thr2720=)
c.7998A>T (p.Thr2666=)
c.5172A>T (p.Thr1724=)
n.402A>T
n.451A>T
c.1274A>T
c.5196A>T (p.Thr1732=)
n.412A>T
c.8157A>T (p.Thr2719=)
c.8049A>T (p.Thr2683=)
c.8031A>T (p.Thr2677=)
c.4803A>T (p.Thr1601=)
c.2733A>T (p.Thr911=)
c.8106A>T (p.Thr2702=)
c.8052A>T (p.Thr2684=)
c.7842A>T (p.Thr2614=)
c.7488A>T (p.Thr2496=)
c.5385A>T (p.Thr1795=)
n.8335A>T
c.7971A>T (p.Thr2657=)
c.7167A>T (p.Thr2389=)
c.6972A>T (p.Thr2324=)
n.8329A>T
n.8275A>T
n.8384A>T
5g.37153953T>CCA444096771CPLANE1n.1159A>G
c.8160A>G (p.Thr2720=)
c.7998A>G (p.Thr2666=)
c.5172A>G (p.Thr1724=)
n.402A>G
n.451A>G
c.1274A>G
c.5196A>G (p.Thr1732=)
n.412A>G
c.8157A>G (p.Thr2719=)
c.8049A>G (p.Thr2683=)
c.8031A>G (p.Thr2677=)
c.4803A>G (p.Thr1601=)
c.2733A>G (p.Thr911=)
c.8106A>G (p.Thr2702=)
c.8052A>G (p.Thr2684=)
c.7842A>G (p.Thr2614=)
c.7488A>G (p.Thr2496=)
c.5385A>G (p.Thr1795=)
n.8335A>G
c.7971A>G (p.Thr2657=)
c.7167A>G (p.Thr2389=)
c.6972A>G (p.Thr2324=)
n.8329A>G
n.8275A>G
n.8384A>G
 ClinVar
5g.37153953T>GCA444096772CPLANE1n.1159A>C
c.8160A>C (p.Thr2720=)
c.7998A>C (p.Thr2666=)
c.5172A>C (p.Thr1724=)
n.402A>C
n.451A>C
c.1274A>C
c.5196A>C (p.Thr1732=)
n.412A>C
c.8157A>C (p.Thr2719=)
c.8049A>C (p.Thr2683=)
c.8031A>C (p.Thr2677=)
c.4803A>C (p.Thr1601=)
c.2733A>C (p.Thr911=)
c.8106A>C (p.Thr2702=)
c.8052A>C (p.Thr2684=)
c.7842A>C (p.Thr2614=)
c.7488A>C (p.Thr2496=)
c.5385A>C (p.Thr1795=)
n.8335A>C
c.7971A>C (p.Thr2657=)
c.7167A>C (p.Thr2389=)
c.6972A>C (p.Thr2324=)
n.8329A>C
n.8275A>C
n.8384A>C
5g.37153953_37153954insTCAAAATAATGACA2527219262CPLANE1n.1158_1159insTCATTATTTTGA
c.8159_8160insTCATTATTTTGA (p.Thr2720_Lys2721insHisTyrPheGlu)
c.7997_7998insTCATTATTTTGA (p.Thr2666_Lys2667insHisTyrPheGlu)
c.5171_5172insTCATTATTTTGA (p.Thr1724_Lys1725insHisTyrPheGlu)
n.401_402insTCATTATTTTGA
n.450_451insTCATTATTTTGA
c.1273_1274insTCATTATTTTGA
c.5195_5196insTCATTATTTTGA (p.Thr1732_Lys1733insHisTyrPheGlu)
n.411_412insTCATTATTTTGA
c.8156_8157insTCATTATTTTGA (p.Thr2719_Lys2720insHisTyrPheGlu)
c.8048_8049insTCATTATTTTGA (p.Thr2683_Lys2684insHisTyrPheGlu)
c.8030_8031insTCATTATTTTGA (p.Thr2677_Lys2678insHisTyrPheGlu)
c.4802_4803insTCATTATTTTGA (p.Thr1601_Lys1602insHisTyrPheGlu)
c.2732_2733insTCATTATTTTGA (p.Thr911_Lys912insHisTyrPheGlu)
c.8105_8106insTCATTATTTTGA (p.Thr2702_Lys2703insHisTyrPheGlu)
c.8051_8052insTCATTATTTTGA (p.Thr2684_Lys2685insHisTyrPheGlu)
c.7841_7842insTCATTATTTTGA (p.Thr2614_Lys2615insHisTyrPheGlu)
c.7487_7488insTCATTATTTTGA (p.Thr2496_Lys2497insHisTyrPheGlu)
c.5384_5385insTCATTATTTTGA (p.Thr1795_Lys1796insHisTyrPheGlu)
n.8334_8335insTCATTATTTTGA
c.7970_7971insTCATTATTTTGA (p.Thr2657_Lys2658insHisTyrPheGlu)
c.7166_7167insTCATTATTTTGA (p.Thr2389_Lys2390insHisTyrPheGlu)
c.6971_6972insTCATTATTTTGA (p.Thr2324_Lys2325insHisTyrPheGlu)
n.8328_8329insTCATTATTTTGA
n.8274_8275insTCATTATTTTGA
n.8383_8384insTCATTATTTTGA
5g.37153954G>ACA359474303CPLANE1n.1158C>T
c.8159C>T (p.Thr2720Ile)
c.7997C>T (p.Thr2666Ile)
c.5171C>T (p.Thr1724Ile)
n.401C>T
n.450C>T
c.1273C>T
c.5195C>T (p.Thr1732Ile)
n.411C>T
c.8156C>T (p.Thr2719Ile)
c.8048C>T (p.Thr2683Ile)
c.8030C>T (p.Thr2677Ile)
c.4802C>T (p.Thr1601Ile)
c.2732C>T (p.Thr911Ile)
c.8105C>T (p.Thr2702Ile)
c.8051C>T (p.Thr2684Ile)
c.7841C>T (p.Thr2614Ile)
c.7487C>T (p.Thr2496Ile)
c.5384C>T (p.Thr1795Ile)
n.8334C>T
c.7970C>T (p.Thr2657Ile)
c.7166C>T (p.Thr2389Ile)
c.6971C>T (p.Thr2324Ile)
n.8328C>T
n.8274C>T
n.8383C>T
5g.37153954G>CCA359474305CPLANE1n.1158C>G
c.8159C>G (p.Thr2720Arg)
c.7997C>G (p.Thr2666Arg)
c.5171C>G (p.Thr1724Arg)
n.401C>G
n.450C>G
c.1273C>G
c.5195C>G (p.Thr1732Arg)
n.411C>G
c.8156C>G (p.Thr2719Arg)
c.8048C>G (p.Thr2683Arg)
c.8030C>G (p.Thr2677Arg)
c.4802C>G (p.Thr1601Arg)
c.2732C>G (p.Thr911Arg)
c.8105C>G (p.Thr2702Arg)
c.8051C>G (p.Thr2684Arg)
c.7841C>G (p.Thr2614Arg)
c.7487C>G (p.Thr2496Arg)
c.5384C>G (p.Thr1795Arg)
n.8334C>G
c.7970C>G (p.Thr2657Arg)
c.7166C>G (p.Thr2389Arg)
c.6971C>G (p.Thr2324Arg)
n.8328C>G
n.8274C>G
n.8383C>G
5g.37153954G>TCA359474301CPLANE1n.1158C>A
c.8159C>A (p.Thr2720Lys)
c.7997C>A (p.Thr2666Lys)
c.5171C>A (p.Thr1724Lys)
n.401C>A
n.450C>A
c.1273C>A
c.5195C>A (p.Thr1732Lys)
n.411C>A
c.8156C>A (p.Thr2719Lys)
c.8048C>A (p.Thr2683Lys)
c.8030C>A (p.Thr2677Lys)
c.4802C>A (p.Thr1601Lys)
c.2732C>A (p.Thr911Lys)
c.8105C>A (p.Thr2702Lys)
c.8051C>A (p.Thr2684Lys)
c.7841C>A (p.Thr2614Lys)
c.7487C>A (p.Thr2496Lys)
c.5384C>A (p.Thr1795Lys)
n.8334C>A
c.7970C>A (p.Thr2657Lys)
c.7166C>A (p.Thr2389Lys)
c.6971C>A (p.Thr2324Lys)
n.8328C>A
n.8274C>A
n.8383C>A
5g.37153955T>ACA359474309CPLANE1n.1157A>T
c.8158A>T (p.Thr2720Ser)
c.7996A>T (p.Thr2666Ser)
c.5170A>T (p.Thr1724Ser)
n.400A>T
n.449A>T
c.1272A>T
c.5194A>T (p.Thr1732Ser)
n.410A>T
c.8155A>T (p.Thr2719Ser)
c.8047A>T (p.Thr2683Ser)
c.8029A>T (p.Thr2677Ser)
c.4801A>T (p.Thr1601Ser)
c.2731A>T (p.Thr911Ser)
c.8104A>T (p.Thr2702Ser)
c.8050A>T (p.Thr2684Ser)
c.7840A>T (p.Thr2614Ser)
c.7486A>T (p.Thr2496Ser)
c.5383A>T (p.Thr1795Ser)
n.8333A>T
c.7969A>T (p.Thr2657Ser)
c.7165A>T (p.Thr2389Ser)
c.6970A>T (p.Thr2324Ser)
n.8327A>T
n.8273A>T
n.8382A>T
5g.37153955T>CCA359474306CPLANE1n.1157A>G
c.8158A>G (p.Thr2720Ala)
c.7996A>G (p.Thr2666Ala)
c.5170A>G (p.Thr1724Ala)
n.400A>G
n.449A>G
c.1272A>G
c.5194A>G (p.Thr1732Ala)
n.410A>G
c.8155A>G (p.Thr2719Ala)
c.8047A>G (p.Thr2683Ala)
c.8029A>G (p.Thr2677Ala)
c.4801A>G (p.Thr1601Ala)
c.2731A>G (p.Thr911Ala)
c.8104A>G (p.Thr2702Ala)
c.8050A>G (p.Thr2684Ala)
c.7840A>G (p.Thr2614Ala)
c.7486A>G (p.Thr2496Ala)
c.5383A>G (p.Thr1795Ala)
n.8333A>G
c.7969A>G (p.Thr2657Ala)
c.7165A>G (p.Thr2389Ala)
c.6970A>G (p.Thr2324Ala)
n.8327A>G
n.8273A>G
n.8382A>G
5g.37153955T>GCA359474308CPLANE1n.1157A>C
c.8158A>C (p.Thr2720Pro)
c.7996A>C (p.Thr2666Pro)
c.5170A>C (p.Thr1724Pro)
n.400A>C
n.449A>C
c.1272A>C
c.5194A>C (p.Thr1732Pro)
n.410A>C
c.8155A>C (p.Thr2719Pro)
c.8047A>C (p.Thr2683Pro)
c.8029A>C (p.Thr2677Pro)
c.4801A>C (p.Thr1601Pro)
c.2731A>C (p.Thr911Pro)
c.8104A>C (p.Thr2702Pro)
c.8050A>C (p.Thr2684Pro)
c.7840A>C (p.Thr2614Pro)
c.7486A>C (p.Thr2496Pro)
c.5383A>C (p.Thr1795Pro)
n.8333A>C
c.7969A>C (p.Thr2657Pro)
c.7165A>C (p.Thr2389Pro)
c.6970A>C (p.Thr2324Pro)
n.8327A>C
n.8273A>C
n.8382A>C
5g.37153956G>ACA444096776CPLANE1n.1156C>T
c.8157C>T (p.Ser2719=)
c.7995C>T (p.Ser2665=)
c.5169C>T (p.Ser1723=)
n.399C>T
n.448C>T
c.1271C>T
c.5193C>T (p.Ser1731=)
n.409C>T
c.8154C>T (p.Ser2718=)
c.8046C>T (p.Ser2682=)
c.8028C>T (p.Ser2676=)
c.4800C>T (p.Ser1600=)
c.2730C>T (p.Ser910=)
c.8103C>T (p.Ser2701=)
c.8049C>T (p.Ser2683=)
c.7839C>T (p.Ser2613=)
c.7485C>T (p.Ser2495=)
c.5382C>T (p.Ser1794=)
n.8332C>T
c.7968C>T (p.Ser2656=)
c.7164C>T (p.Ser2388=)
c.6969C>T (p.Ser2323=)
n.8326C>T
n.8272C>T
n.8381C>T
5g.37153956G>CCA359474311CPLANE1n.1156C>G
c.8157C>G (p.Ser2719Arg)
c.7995C>G (p.Ser2665Arg)
c.5169C>G (p.Ser1723Arg)
n.399C>G
n.448C>G
c.1271C>G
c.5193C>G (p.Ser1731Arg)
n.409C>G
c.8154C>G (p.Ser2718Arg)
c.8046C>G (p.Ser2682Arg)
c.8028C>G (p.Ser2676Arg)
c.4800C>G (p.Ser1600Arg)
c.2730C>G (p.Ser910Arg)
c.8103C>G (p.Ser2701Arg)
c.8049C>G (p.Ser2683Arg)
c.7839C>G (p.Ser2613Arg)
c.7485C>G (p.Ser2495Arg)
c.5382C>G (p.Ser1794Arg)
n.8332C>G
c.7968C>G (p.Ser2656Arg)
c.7164C>G (p.Ser2388Arg)
c.6969C>G (p.Ser2323Arg)
n.8326C>G
n.8272C>G
n.8381C>G
5g.37153956G>TCA359474312CPLANE1n.1156C>A
c.8157C>A (p.Ser2719Arg)
c.7995C>A (p.Ser2665Arg)
c.5169C>A (p.Ser1723Arg)
n.399C>A
n.448C>A
c.1271C>A
c.5193C>A (p.Ser1731Arg)
n.409C>A
c.8154C>A (p.Ser2718Arg)
c.8046C>A (p.Ser2682Arg)
c.8028C>A (p.Ser2676Arg)
c.4800C>A (p.Ser1600Arg)
c.2730C>A (p.Ser910Arg)
c.8103C>A (p.Ser2701Arg)
c.8049C>A (p.Ser2683Arg)
c.7839C>A (p.Ser2613Arg)
c.7485C>A (p.Ser2495Arg)
c.5382C>A (p.Ser1794Arg)
n.8332C>A
c.7968C>A (p.Ser2656Arg)
c.7164C>A (p.Ser2388Arg)
c.6969C>A (p.Ser2323Arg)
n.8326C>A
n.8272C>A
n.8381C>A
5g.37153956_37153958delinsGCTCA1539651418CPLANE1n.1154_1156delinsAGC
c.8155_8157delinsAGC (p.Ser2719=)
c.7993_7995delinsAGC (p.Ser2665=)
c.5167_5169delinsAGC (p.Ser1723=)
n.397_399delinsAGC
n.446_448delinsAGC
c.1269_1271delinsAGC
c.5191_5193delinsAGC (p.Ser1731=)
n.407_409delinsAGC
c.8152_8154delinsAGC (p.Ser2718=)
c.8044_8046delinsAGC (p.Ser2682=)
c.8026_8028delinsAGC (p.Ser2676=)
c.4798_4800delinsAGC (p.Ser1600=)
c.2728_2730delinsAGC (p.Ser910=)
c.8101_8103delinsAGC (p.Ser2701=)
c.8047_8049delinsAGC (p.Ser2683=)
c.7837_7839delinsAGC (p.Ser2613=)
c.7483_7485delinsAGC (p.Ser2495=)
c.5380_5382delinsAGC (p.Ser1794=)
n.8330_8332delinsAGC
c.7966_7968delinsAGC (p.Ser2656=)
c.7162_7164delinsAGC (p.Ser2388=)
c.6967_6969delinsAGC (p.Ser2323=)
n.8324_8326delinsAGC
n.8270_8272delinsAGC
n.8379_8381delinsAGC
5g.37153957C>ACA359474314CPLANE1n.1155G>T
c.8156G>T (p.Ser2719Ile)
c.7994G>T (p.Ser2665Ile)
c.5168G>T (p.Ser1723Ile)
n.398G>T
n.447G>T
c.1270G>T
c.5192G>T (p.Ser1731Ile)
n.408G>T
c.8153G>T (p.Ser2718Ile)
c.8045G>T (p.Ser2682Ile)
c.8027G>T (p.Ser2676Ile)
c.4799G>T (p.Ser1600Ile)
c.2729G>T (p.Ser910Ile)
c.8102G>T (p.Ser2701Ile)
c.8048G>T (p.Ser2683Ile)
c.7838G>T (p.Ser2613Ile)
c.7484G>T (p.Ser2495Ile)
c.5381G>T (p.Ser1794Ile)
n.8331G>T
c.7967G>T (p.Ser2656Ile)
c.7163G>T (p.Ser2388Ile)
c.6968G>T (p.Ser2323Ile)
n.8325G>T
n.8271G>T
n.8380G>T
5g.37153957C>GCA359474316CPLANE1n.1155G>C
c.8156G>C (p.Ser2719Thr)
c.7994G>C (p.Ser2665Thr)
c.5168G>C (p.Ser1723Thr)
n.398G>C
n.447G>C
c.1270G>C
c.5192G>C (p.Ser1731Thr)
n.408G>C
c.8153G>C (p.Ser2718Thr)
c.8045G>C (p.Ser2682Thr)
c.8027G>C (p.Ser2676Thr)
c.4799G>C (p.Ser1600Thr)
c.2729G>C (p.Ser910Thr)
c.8102G>C (p.Ser2701Thr)
c.8048G>C (p.Ser2683Thr)
c.7838G>C (p.Ser2613Thr)
c.7484G>C (p.Ser2495Thr)
c.5381G>C (p.Ser1794Thr)
n.8331G>C
c.7967G>C (p.Ser2656Thr)
c.7163G>C (p.Ser2388Thr)
c.6968G>C (p.Ser2323Thr)
n.8325G>C
n.8271G>C
n.8380G>C
5g.37153957C>TCA359474318CPLANE1n.1155G>A
c.8156G>A (p.Ser2719Asn)
c.7994G>A (p.Ser2665Asn)
c.5168G>A (p.Ser1723Asn)
n.398G>A
n.447G>A
c.1270G>A
c.5192G>A (p.Ser1731Asn)
n.408G>A
c.8153G>A (p.Ser2718Asn)
c.8045G>A (p.Ser2682Asn)
c.8027G>A (p.Ser2676Asn)
c.4799G>A (p.Ser1600Asn)
c.2729G>A (p.Ser910Asn)
c.8102G>A (p.Ser2701Asn)
c.8048G>A (p.Ser2683Asn)
c.7838G>A (p.Ser2613Asn)
c.7484G>A (p.Ser2495Asn)
c.5381G>A (p.Ser1794Asn)
n.8331G>A
c.7967G>A (p.Ser2656Asn)
c.7163G>A (p.Ser2388Asn)
c.6968G>A (p.Ser2323Asn)
n.8325G>A
n.8271G>A
n.8380G>A
5g.37153959_37153960delCA1539651422CPLANE1n.1154_1155del
c.8155_8156del (p.Ser2719HisfsTer?)
c.7993_7994del (p.Ser2665HisfsTer?)
c.5167_5168del (p.Ser1723HisfsTer?)
n.397_398del
n.446_447del
c.1269_1270del
c.5191_5192del (p.Ser1731HisfsTer?)
n.407_408del
c.8152_8153del (p.Ser2718HisfsTer?)
c.8044_8045del (p.Ser2682HisfsTer?)
c.8026_8027del (p.Ser2676HisfsTer?)
c.4798_4799del (p.Ser1600HisfsTer?)
c.2728_2729del (p.Ser910HisfsTer?)
c.8101_8102del (p.Ser2701HisfsTer?)
c.8047_8048del (p.Ser2683HisfsTer?)
c.7837_7838del (p.Ser2613HisfsTer?)
c.7483_7484del (p.Ser2495HisfsTer?)
c.5380_5381del (p.Ser1794HisfsTer?)
n.8330_8331del
c.7966_7967del (p.Ser2656HisfsTer?)
c.7162_7163del (p.Ser2388HisfsTer?)
c.6967_6968del (p.Ser2323HisfsTer?)
n.8324_8325del
n.8270_8271del
n.8379_8380del
 ClinVar dbSNP
5g.37153958T>ACA359474319CPLANE1n.1154A>T
c.8155A>T (p.Ser2719Cys)
c.7993A>T (p.Ser2665Cys)
c.5167A>T (p.Ser1723Cys)
n.397A>T
n.446A>T
c.1269A>T
c.5191A>T (p.Ser1731Cys)
n.407A>T
c.8152A>T (p.Ser2718Cys)
c.8044A>T (p.Ser2682Cys)
c.8026A>T (p.Ser2676Cys)
c.4798A>T (p.Ser1600Cys)
c.2728A>T (p.Ser910Cys)
c.8101A>T (p.Ser2701Cys)
c.8047A>T (p.Ser2683Cys)
c.7837A>T (p.Ser2613Cys)
c.7483A>T (p.Ser2495Cys)
c.5380A>T (p.Ser1794Cys)
n.8330A>T
c.7966A>T (p.Ser2656Cys)
c.7162A>T (p.Ser2388Cys)
c.6967A>T (p.Ser2323Cys)
n.8324A>T
n.8270A>T
n.8379A>T
5g.37153958T>CCA359474321CPLANE1n.1154A>G
c.8155A>G (p.Ser2719Gly)
c.7993A>G (p.Ser2665Gly)
c.5167A>G (p.Ser1723Gly)
n.397A>G
n.446A>G
c.1269A>G
c.5191A>G (p.Ser1731Gly)
n.407A>G
c.8152A>G (p.Ser2718Gly)
c.8044A>G (p.Ser2682Gly)
c.8026A>G (p.Ser2676Gly)
c.4798A>G (p.Ser1600Gly)
c.2728A>G (p.Ser910Gly)
c.8101A>G (p.Ser2701Gly)
c.8047A>G (p.Ser2683Gly)
c.7837A>G (p.Ser2613Gly)
c.7483A>G (p.Ser2495Gly)
c.5380A>G (p.Ser1794Gly)
n.8330A>G
c.7966A>G (p.Ser2656Gly)
c.7162A>G (p.Ser2388Gly)
c.6967A>G (p.Ser2323Gly)
n.8324A>G
n.8270A>G
n.8379A>G
5g.37153958T>GCA359474323CPLANE1n.1154A>C
c.8155A>C (p.Ser2719Arg)
c.7993A>C (p.Ser2665Arg)
c.5167A>C (p.Ser1723Arg)
n.397A>C
n.446A>C
c.1269A>C
c.5191A>C (p.Ser1731Arg)
n.407A>C
c.8152A>C (p.Ser2718Arg)
c.8044A>C (p.Ser2682Arg)
c.8026A>C (p.Ser2676Arg)
c.4798A>C (p.Ser1600Arg)
c.2728A>C (p.Ser910Arg)
c.8101A>C (p.Ser2701Arg)
c.8047A>C (p.Ser2683Arg)
c.7837A>C (p.Ser2613Arg)
c.7483A>C (p.Ser2495Arg)
c.5380A>C (p.Ser1794Arg)
n.8330A>C
c.7966A>C (p.Ser2656Arg)
c.7162A>C (p.Ser2388Arg)
c.6967A>C (p.Ser2323Arg)
n.8324A>C
n.8270A>C
n.8379A>C
5g.37153959C>ACA359474324CPLANE1n.1153G>T
c.8154G>T (p.Gln2718His)
c.7992G>T (p.Gln2664His)
c.5166G>T (p.Gln1722His)
n.396G>T
n.445G>T
c.1268G>T
c.5190G>T (p.Gln1730His)
n.406G>T
c.8151G>T (p.Gln2717His)
c.8043G>T (p.Gln2681His)
c.8025G>T (p.Gln2675His)
c.4797G>T (p.Gln1599His)
c.2727G>T (p.Gln909His)
c.8100G>T (p.Gln2700His)
c.8046G>T (p.Gln2682His)
c.7836G>T (p.Gln2612His)
c.7482G>T (p.Gln2494His)
c.5379G>T (p.Gln1793His)
n.8329G>T
c.7965G>T (p.Gln2655His)
c.7161G>T (p.Gln2387His)
c.6966G>T (p.Gln2322His)
n.8323G>T
n.8269G>T
n.8378G>T
5g.37153959C>GCA359474325CPLANE1n.1153G>C
c.8154G>C (p.Gln2718His)
c.7992G>C (p.Gln2664His)
c.5166G>C (p.Gln1722His)
n.396G>C
n.445G>C
c.1268G>C
c.5190G>C (p.Gln1730His)
n.406G>C
c.8151G>C (p.Gln2717His)
c.8043G>C (p.Gln2681His)
c.8025G>C (p.Gln2675His)
c.4797G>C (p.Gln1599His)
c.2727G>C (p.Gln909His)
c.8100G>C (p.Gln2700His)
c.8046G>C (p.Gln2682His)
c.7836G>C (p.Gln2612His)
c.7482G>C (p.Gln2494His)
c.5379G>C (p.Gln1793His)
n.8329G>C
c.7965G>C (p.Gln2655His)
c.7161G>C (p.Gln2387His)
c.6966G>C (p.Gln2322His)
n.8323G>C
n.8269G>C
n.8378G>C
 COSMIC COSMIC
5g.37153959C>TCA444096780CPLANE1n.1153G>A
c.8154G>A (p.Gln2718=)
c.7992G>A (p.Gln2664=)
c.5166G>A (p.Gln1722=)
n.396G>A
n.445G>A
c.1268G>A
c.5190G>A (p.Gln1730=)
n.406G>A
c.8151G>A (p.Gln2717=)
c.8043G>A (p.Gln2681=)
c.8025G>A (p.Gln2675=)
c.4797G>A (p.Gln1599=)
c.2727G>A (p.Gln909=)
c.8100G>A (p.Gln2700=)
c.8046G>A (p.Gln2682=)
c.7836G>A (p.Gln2612=)
c.7482G>A (p.Gln2494=)
c.5379G>A (p.Gln1793=)
n.8329G>A
c.7965G>A (p.Gln2655=)
c.7161G>A (p.Gln2387=)
c.6966G>A (p.Gln2322=)
n.8323G>A
n.8269G>A
n.8378G>A
5g.37153960T>ACA3237851CPLANE1n.1152A>T
c.8153A>T (p.Gln2718Leu)
c.7991A>T (p.Gln2664Leu)
c.5165A>T (p.Gln1722Leu)
n.395A>T
n.444A>T
c.1267A>T
c.5189A>T (p.Gln1730Leu)
n.405A>T
c.8150A>T (p.Gln2717Leu)
c.8042A>T (p.Gln2681Leu)
c.8024A>T (p.Gln2675Leu)
c.4796A>T (p.Gln1599Leu)
c.2726A>T (p.Gln909Leu)
c.8099A>T (p.Gln2700Leu)
c.8045A>T (p.Gln2682Leu)
c.7835A>T (p.Gln2612Leu)
c.7481A>T (p.Gln2494Leu)
c.5378A>T (p.Gln1793Leu)
n.8328A>T
c.7964A>T (p.Gln2655Leu)
c.7160A>T (p.Gln2387Leu)
c.6965A>T (p.Gln2322Leu)
n.8322A>T
n.8268A>T
n.8377A>T
 dbSNP ExAC
5g.37153960T>CCA359474327CPLANE1n.1152A>G
c.8153A>G (p.Gln2718Arg)
c.7991A>G (p.Gln2664Arg)
c.5165A>G (p.Gln1722Arg)
n.395A>G
n.444A>G
c.1267A>G
c.5189A>G (p.Gln1730Arg)
n.405A>G
c.8150A>G (p.Gln2717Arg)
c.8042A>G (p.Gln2681Arg)
c.8024A>G (p.Gln2675Arg)
c.4796A>G (p.Gln1599Arg)
c.2726A>G (p.Gln909Arg)
c.8099A>G (p.Gln2700Arg)
c.8045A>G (p.Gln2682Arg)
c.7835A>G (p.Gln2612Arg)
c.7481A>G (p.Gln2494Arg)
c.5378A>G (p.Gln1793Arg)
n.8328A>G
c.7964A>G (p.Gln2655Arg)
c.7160A>G (p.Gln2387Arg)
c.6965A>G (p.Gln2322Arg)
n.8322A>G
n.8268A>G
n.8377A>G
5g.37153960T>GCA359474328CPLANE1n.1152A>C
c.8153A>C (p.Gln2718Pro)
c.7991A>C (p.Gln2664Pro)
c.5165A>C (p.Gln1722Pro)
n.395A>C
n.444A>C
c.1267A>C
c.5189A>C (p.Gln1730Pro)
n.405A>C
c.8150A>C (p.Gln2717Pro)
c.8042A>C (p.Gln2681Pro)
c.8024A>C (p.Gln2675Pro)
c.4796A>C (p.Gln1599Pro)
c.2726A>C (p.Gln909Pro)
c.8099A>C (p.Gln2700Pro)
c.8045A>C (p.Gln2682Pro)
c.7835A>C (p.Gln2612Pro)
c.7481A>C (p.Gln2494Pro)
c.5378A>C (p.Gln1793Pro)
n.8328A>C
c.7964A>C (p.Gln2655Pro)
c.7160A>C (p.Gln2387Pro)
c.6965A>C (p.Gln2322Pro)
n.8322A>C
n.8268A>C
n.8377A>C
5g.37153960T=CA1539651425CPLANE1n.1152A=
c.8153A= (p.Gln2718=)
c.7991A= (p.Gln2664=)
c.5165A= (p.Gln1722=)
n.395A=
n.444A=
c.1267A=
c.5189A= (p.Gln1730=)
n.405A=
c.8150A= (p.Gln2717=)
c.8042A= (p.Gln2681=)
c.8024A= (p.Gln2675=)
c.4796A= (p.Gln1599=)
c.2726A= (p.Gln909=)
c.8099A= (p.Gln2700=)
c.8045A= (p.Gln2682=)
c.7835A= (p.Gln2612=)
c.7481A= (p.Gln2494=)
c.5378A= (p.Gln1793=)
n.8328A=
c.7964A= (p.Gln2655=)
c.7160A= (p.Gln2387=)
c.6965A= (p.Gln2322=)
n.8322A=
n.8268A=
n.8377A=
5g.37153961G>ACA359474330CPLANE1n.1151C>T
c.8152C>T (p.Gln2718Ter)
c.7990C>T (p.Gln2664Ter)
c.5164C>T (p.Gln1722Ter)
n.394C>T
n.443C>T
c.1266C>T
c.5188C>T (p.Gln1730Ter)
n.404C>T
c.8149C>T (p.Gln2717Ter)
c.8041C>T (p.Gln2681Ter)
c.8023C>T (p.Gln2675Ter)
c.4795C>T (p.Gln1599Ter)
c.2725C>T (p.Gln909Ter)
c.8098C>T (p.Gln2700Ter)
c.8044C>T (p.Gln2682Ter)
c.7834C>T (p.Gln2612Ter)
c.7480C>T (p.Gln2494Ter)
c.5377C>T (p.Gln1793Ter)
n.8327C>T
c.7963C>T (p.Gln2655Ter)
c.7159C>T (p.Gln2387Ter)
c.6964C>T (p.Gln2322Ter)
n.8321C>T
n.8267C>T
n.8376C>T
5g.37153961G>CCA359474332CPLANE1n.1151C>G
c.8152C>G (p.Gln2718Glu)
c.7990C>G (p.Gln2664Glu)
c.5164C>G (p.Gln1722Glu)
n.394C>G
n.443C>G
c.1266C>G
c.5188C>G (p.Gln1730Glu)
n.404C>G
c.8149C>G (p.Gln2717Glu)
c.8041C>G (p.Gln2681Glu)
c.8023C>G (p.Gln2675Glu)
c.4795C>G (p.Gln1599Glu)
c.2725C>G (p.Gln909Glu)
c.8098C>G (p.Gln2700Glu)
c.8044C>G (p.Gln2682Glu)
c.7834C>G (p.Gln2612Glu)
c.7480C>G (p.Gln2494Glu)
c.5377C>G (p.Gln1793Glu)
n.8327C>G
c.7963C>G (p.Gln2655Glu)
c.7159C>G (p.Gln2387Glu)
c.6964C>G (p.Gln2322Glu)
n.8321C>G
n.8267C>G
n.8376C>G
5g.37153961G>TCA359474333CPLANE1n.1151C>A
c.8152C>A (p.Gln2718Lys)
c.7990C>A (p.Gln2664Lys)
c.5164C>A (p.Gln1722Lys)
n.394C>A
n.443C>A
c.1266C>A
c.5188C>A (p.Gln1730Lys)
n.404C>A
c.8149C>A (p.Gln2717Lys)
c.8041C>A (p.Gln2681Lys)
c.8023C>A (p.Gln2675Lys)
c.4795C>A (p.Gln1599Lys)
c.2725C>A (p.Gln909Lys)
c.8098C>A (p.Gln2700Lys)
c.8044C>A (p.Gln2682Lys)
c.7834C>A (p.Gln2612Lys)
c.7480C>A (p.Gln2494Lys)
c.5377C>A (p.Gln1793Lys)
n.8327C>A
c.7963C>A (p.Gln2655Lys)
c.7159C>A (p.Gln2387Lys)
c.6964C>A (p.Gln2322Lys)
n.8321C>A
n.8267C>A
n.8376C>A
5g.37153961_37153963delinsGTCCA1539651432CPLANE1n.1149_1151delinsGAC
c.8150_8152delinsGAC (p.Gly2717=)
c.7988_7990delinsGAC (p.Gly2663=)
c.5162_5164delinsGAC (p.Gly1721=)
n.392_394delinsGAC
n.441_443delinsGAC
c.1264_1266delinsGAC
c.5186_5188delinsGAC (p.Gly1729=)
n.402_404delinsGAC
c.8147_8149delinsGAC (p.Gly2716=)
c.8039_8041delinsGAC (p.Gly2680=)
c.8021_8023delinsGAC (p.Gly2674=)
c.4793_4795delinsGAC (p.Gly1598=)
c.2723_2725delinsGAC (p.Gly908=)
c.8096_8098delinsGAC (p.Gly2699=)
c.8042_8044delinsGAC (p.Gly2681=)
c.7832_7834delinsGAC (p.Gly2611=)
c.7478_7480delinsGAC (p.Gly2493=)
c.5375_5377delinsGAC (p.Gly1792=)
n.8325_8327delinsGAC
c.7961_7963delinsGAC (p.Gly2654=)
c.7157_7159delinsGAC (p.Gly2386=)
c.6962_6964delinsGAC (p.Gly2321=)
n.8319_8321delinsGAC
n.8265_8267delinsGAC
n.8374_8376delinsGAC
5g.37153962T>ACA444096782CPLANE1n.1150A>T
c.8151A>T (p.Gly2717=)
c.7989A>T (p.Gly2663=)
c.5163A>T (p.Gly1721=)
n.393A>T
n.442A>T
c.1265A>T
c.5187A>T (p.Gly1729=)
n.403A>T
c.8148A>T (p.Gly2716=)
c.8040A>T (p.Gly2680=)
c.8022A>T (p.Gly2674=)
c.4794A>T (p.Gly1598=)
c.2724A>T (p.Gly908=)
c.8097A>T (p.Gly2699=)
c.8043A>T (p.Gly2681=)
c.7833A>T (p.Gly2611=)
c.7479A>T (p.Gly2493=)
c.5376A>T (p.Gly1792=)
n.8326A>T
c.7962A>T (p.Gly2654=)
c.7158A>T (p.Gly2386=)
c.6963A>T (p.Gly2321=)
n.8320A>T
n.8266A>T
n.8375A>T
5g.37153962T>CCA444096784CPLANE1n.1150A>G
c.8151A>G (p.Gly2717=)
c.7989A>G (p.Gly2663=)
c.5163A>G (p.Gly1721=)
n.393A>G
n.442A>G
c.1265A>G
c.5187A>G (p.Gly1729=)
n.403A>G
c.8148A>G (p.Gly2716=)
c.8040A>G (p.Gly2680=)
c.8022A>G (p.Gly2674=)
c.4794A>G (p.Gly1598=)
c.2724A>G (p.Gly908=)
c.8097A>G (p.Gly2699=)
c.8043A>G (p.Gly2681=)
c.7833A>G (p.Gly2611=)
c.7479A>G (p.Gly2493=)
c.5376A>G (p.Gly1792=)
n.8326A>G
c.7962A>G (p.Gly2654=)
c.7158A>G (p.Gly2386=)
c.6963A>G (p.Gly2321=)
n.8320A>G
n.8266A>G
n.8375A>G
5g.37153962T>GCA444096785CPLANE1n.1150A>C
c.8151A>C (p.Gly2717=)
c.7989A>C (p.Gly2663=)
c.5163A>C (p.Gly1721=)
n.393A>C
n.442A>C
c.1265A>C
c.5187A>C (p.Gly1729=)
n.403A>C
c.8148A>C (p.Gly2716=)
c.8040A>C (p.Gly2680=)
c.8022A>C (p.Gly2674=)
c.4794A>C (p.Gly1598=)
c.2724A>C (p.Gly908=)
c.8097A>C (p.Gly2699=)
c.8043A>C (p.Gly2681=)
c.7833A>C (p.Gly2611=)
c.7479A>C (p.Gly2493=)
c.5376A>C (p.Gly1792=)
n.8326A>C
c.7962A>C (p.Gly2654=)
c.7158A>C (p.Gly2386=)
c.6963A>C (p.Gly2321=)
n.8320A>C
n.8266A>C
n.8375A>C
5g.37153962_37153963delCA249930CPLANE1n.1149_1150del
c.8150_8151del (p.Gly2717AlafsTer?)
c.7988_7989del (p.Gly2663AlafsTer?)
c.5162_5163del (p.Gly1721AlafsTer?)
n.392_393del
n.441_442del
c.1264_1265del
c.5186_5187del (p.Gly1729AlafsTer?)
n.402_403del
c.8147_8148del (p.Gly2716AlafsTer?)
c.8039_8040del (p.Gly2680AlafsTer?)
c.8021_8022del (p.Gly2674AlafsTer?)
c.4793_4794del (p.Gly1598AlafsTer?)
c.2723_2724del (p.Gly908AlafsTer?)
c.8096_8097del (p.Gly2699AlafsTer?)
c.8042_8043del (p.Gly2681AlafsTer?)
c.7832_7833del (p.Gly2611AlafsTer?)
c.7478_7479del (p.Gly2493AlafsTer?)
c.5375_5376del (p.Gly1792AlafsTer?)
n.8325_8326del
c.7961_7962del (p.Gly2654AlafsTer?)
c.7157_7158del (p.Gly2386AlafsTer?)
c.6962_6963del (p.Gly2321AlafsTer?)
n.8319_8320del
n.8265_8266del
n.8374_8375del
 ClinVar dbSNP
5g.37153963C>ACA359474336CPLANE1n.1149G>T
c.8150G>T (p.Gly2717Val)
c.7988G>T (p.Gly2663Val)
c.5162G>T (p.Gly1721Val)
n.392G>T
n.441G>T
c.1264G>T
c.5186G>T (p.Gly1729Val)
n.402G>T
c.8147G>T (p.Gly2716Val)
c.8039G>T (p.Gly2680Val)
c.8021G>T (p.Gly2674Val)
c.4793G>T (p.Gly1598Val)
c.2723G>T (p.Gly908Val)
c.8096G>T (p.Gly2699Val)
c.8042G>T (p.Gly2681Val)
c.7832G>T (p.Gly2611Val)
c.7478G>T (p.Gly2493Val)
c.5375G>T (p.Gly1792Val)
n.8325G>T
c.7961G>T (p.Gly2654Val)
c.7157G>T (p.Gly2386Val)
c.6962G>T (p.Gly2321Val)
n.8319G>T
n.8265G>T
n.8374G>T
5g.37153963C>GCA359474337CPLANE1n.1149G>C
c.8150G>C (p.Gly2717Ala)
c.7988G>C (p.Gly2663Ala)
c.5162G>C (p.Gly1721Ala)
n.392G>C
n.441G>C
c.1264G>C
c.5186G>C (p.Gly1729Ala)
n.402G>C
c.8147G>C (p.Gly2716Ala)
c.8039G>C (p.Gly2680Ala)
c.8021G>C (p.Gly2674Ala)
c.4793G>C (p.Gly1598Ala)
c.2723G>C (p.Gly908Ala)
c.8096G>C (p.Gly2699Ala)
c.8042G>C (p.Gly2681Ala)
c.7832G>C (p.Gly2611Ala)
c.7478G>C (p.Gly2493Ala)
c.5375G>C (p.Gly1792Ala)
n.8325G>C
c.7961G>C (p.Gly2654Ala)
c.7157G>C (p.Gly2386Ala)
c.6962G>C (p.Gly2321Ala)
n.8319G>C
n.8265G>C
n.8374G>C
5g.37153963C>TCA359474339CPLANE1n.1149G>A
c.8150G>A (p.Gly2717Glu)
c.7988G>A (p.Gly2663Glu)
c.5162G>A (p.Gly1721Glu)
n.392G>A
n.441G>A
c.1264G>A
c.5186G>A (p.Gly1729Glu)
n.402G>A
c.8147G>A (p.Gly2716Glu)
c.8039G>A (p.Gly2680Glu)
c.8021G>A (p.Gly2674Glu)
c.4793G>A (p.Gly1598Glu)
c.2723G>A (p.Gly908Glu)
c.8096G>A (p.Gly2699Glu)
c.8042G>A (p.Gly2681Glu)
c.7832G>A (p.Gly2611Glu)
c.7478G>A (p.Gly2493Glu)
c.5375G>A (p.Gly1792Glu)
n.8325G>A
c.7961G>A (p.Gly2654Glu)
c.7157G>A (p.Gly2386Glu)
c.6962G>A (p.Gly2321Glu)
n.8319G>A
n.8265G>A
n.8374G>A
 gnomAD v4
5g.37153964C>ACA359474341CPLANE1n.1148G>T
c.8149G>T (p.Gly2717Ter)
c.7987G>T (p.Gly2663Ter)
c.5161G>T (p.Gly1721Ter)
n.391G>T
n.440G>T
c.1263G>T
c.5185G>T (p.Gly1729Ter)
n.401G>T
c.8146G>T (p.Gly2716Ter)
c.8038G>T (p.Gly2680Ter)
c.8020G>T (p.Gly2674Ter)
c.4792G>T (p.Gly1598Ter)
c.2722G>T (p.Gly908Ter)
c.8095G>T (p.Gly2699Ter)
c.8041G>T (p.Gly2681Ter)
c.7831G>T (p.Gly2611Ter)
c.7477G>T (p.Gly2493Ter)
c.5374G>T (p.Gly1792Ter)
n.8324G>T
c.7960G>T (p.Gly2654Ter)
c.7156G>T (p.Gly2386Ter)
c.6961G>T (p.Gly2321Ter)
n.8318G>T
n.8264G>T
n.8373G>T
5g.37153964C>GCA359474343CPLANE1n.1148G>C
c.8149G>C (p.Gly2717Arg)
c.7987G>C (p.Gly2663Arg)
c.5161G>C (p.Gly1721Arg)
n.391G>C
n.440G>C
c.1263G>C
c.5185G>C (p.Gly1729Arg)
n.401G>C
c.8146G>C (p.Gly2716Arg)
c.8038G>C (p.Gly2680Arg)
c.8020G>C (p.Gly2674Arg)
c.4792G>C (p.Gly1598Arg)
c.2722G>C (p.Gly908Arg)
c.8095G>C (p.Gly2699Arg)
c.8041G>C (p.Gly2681Arg)
c.7831G>C (p.Gly2611Arg)
c.7477G>C (p.Gly2493Arg)
c.5374G>C (p.Gly1792Arg)
n.8324G>C
c.7960G>C (p.Gly2654Arg)
c.7156G>C (p.Gly2386Arg)
c.6961G>C (p.Gly2321Arg)
n.8318G>C
n.8264G>C
n.8373G>C
5g.37153964C>TCA359474344CPLANE1n.1148G>A
c.8149G>A (p.Gly2717Arg)
c.7987G>A (p.Gly2663Arg)
c.5161G>A (p.Gly1721Arg)
n.391G>A
n.440G>A
c.1263G>A
c.5185G>A (p.Gly1729Arg)
n.401G>A
c.8146G>A (p.Gly2716Arg)
c.8038G>A (p.Gly2680Arg)
c.8020G>A (p.Gly2674Arg)
c.4792G>A (p.Gly1598Arg)
c.2722G>A (p.Gly908Arg)
c.8095G>A (p.Gly2699Arg)
c.8041G>A (p.Gly2681Arg)
c.7831G>A (p.Gly2611Arg)
c.7477G>A (p.Gly2493Arg)
c.5374G>A (p.Gly1792Arg)
n.8324G>A
c.7960G>A (p.Gly2654Arg)
c.7156G>A (p.Gly2386Arg)
c.6961G>A (p.Gly2321Arg)
n.8318G>A
n.8264G>A
n.8373G>A
 gnomAD v4
5g.37153965T>ACA359474346CPLANE1n.1147A>T
c.8148A>T (p.Lys2716Asn)
c.7986A>T (p.Lys2662Asn)
c.5160A>T (p.Lys1720Asn)
n.390A>T
n.439A>T
c.1262A>T
c.5184A>T (p.Lys1728Asn)
n.400A>T
c.8145A>T (p.Lys2715Asn)
c.8037A>T (p.Lys2679Asn)
c.8019A>T (p.Lys2673Asn)
c.4791A>T (p.Lys1597Asn)
c.2721A>T (p.Lys907Asn)
c.8094A>T (p.Lys2698Asn)
c.8040A>T (p.Lys2680Asn)
c.7830A>T (p.Lys2610Asn)
c.7476A>T (p.Lys2492Asn)
c.5373A>T (p.Lys1791Asn)
n.8323A>T
c.7959A>T (p.Lys2653Asn)
c.7155A>T (p.Lys2385Asn)
c.6960A>T (p.Lys2320Asn)
n.8317A>T
n.8263A>T
n.8372A>T
5g.37153965T>CCA444096789CPLANE1n.1147A>G
c.8148A>G (p.Lys2716=)
c.7986A>G (p.Lys2662=)
c.5160A>G (p.Lys1720=)
n.390A>G
n.439A>G
c.1262A>G
c.5184A>G (p.Lys1728=)
n.400A>G
c.8145A>G (p.Lys2715=)
c.8037A>G (p.Lys2679=)
c.8019A>G (p.Lys2673=)
c.4791A>G (p.Lys1597=)
c.2721A>G (p.Lys907=)
c.8094A>G (p.Lys2698=)
c.8040A>G (p.Lys2680=)
c.7830A>G (p.Lys2610=)
c.7476A>G (p.Lys2492=)
c.5373A>G (p.Lys1791=)
n.8323A>G
c.7959A>G (p.Lys2653=)
c.7155A>G (p.Lys2385=)
c.6960A>G (p.Lys2320=)
n.8317A>G
n.8263A>G
n.8372A>G
5g.37153965T>GCA359474347CPLANE1n.1147A>C
c.8148A>C (p.Lys2716Asn)
c.7986A>C (p.Lys2662Asn)
c.5160A>C (p.Lys1720Asn)
n.390A>C
n.439A>C
c.1262A>C
c.5184A>C (p.Lys1728Asn)
n.400A>C
c.8145A>C (p.Lys2715Asn)
c.8037A>C (p.Lys2679Asn)
c.8019A>C (p.Lys2673Asn)
c.4791A>C (p.Lys1597Asn)
c.2721A>C (p.Lys907Asn)
c.8094A>C (p.Lys2698Asn)
c.8040A>C (p.Lys2680Asn)
c.7830A>C (p.Lys2610Asn)
c.7476A>C (p.Lys2492Asn)
c.5373A>C (p.Lys1791Asn)
n.8323A>C
c.7959A>C (p.Lys2653Asn)
c.7155A>C (p.Lys2385Asn)
c.6960A>C (p.Lys2320Asn)
n.8317A>C
n.8263A>C
n.8372A>C
5g.37153966T>ACA359474351CPLANE1n.1146A>T
c.8147A>T (p.Lys2716Ile)
c.7985A>T (p.Lys2662Ile)
c.5159A>T (p.Lys1720Ile)
n.389A>T
n.438A>T
c.1261A>T
c.5183A>T (p.Lys1728Ile)
n.399A>T
c.8144A>T (p.Lys2715Ile)
c.8036A>T (p.Lys2679Ile)
c.8018A>T (p.Lys2673Ile)
c.4790A>T (p.Lys1597Ile)
c.2720A>T (p.Lys907Ile)
c.8093A>T (p.Lys2698Ile)
c.8039A>T (p.Lys2680Ile)
c.7829A>T (p.Lys2610Ile)
c.7475A>T (p.Lys2492Ile)
c.5372A>T (p.Lys1791Ile)
n.8322A>T
c.7958A>T (p.Lys2653Ile)
c.7154A>T (p.Lys2385Ile)
c.6959A>T (p.Lys2320Ile)
n.8316A>T
n.8262A>T
n.8371A>T
5g.37153966T>CCA359474353CPLANE1n.1146A>G
c.8147A>G (p.Lys2716Arg)
c.7985A>G (p.Lys2662Arg)
c.5159A>G (p.Lys1720Arg)
n.389A>G
n.438A>G
c.1261A>G
c.5183A>G (p.Lys1728Arg)
n.399A>G
c.8144A>G (p.Lys2715Arg)
c.8036A>G (p.Lys2679Arg)
c.8018A>G (p.Lys2673Arg)
c.4790A>G (p.Lys1597Arg)
c.2720A>G (p.Lys907Arg)
c.8093A>G (p.Lys2698Arg)
c.8039A>G (p.Lys2680Arg)
c.7829A>G (p.Lys2610Arg)
c.7475A>G (p.Lys2492Arg)
c.5372A>G (p.Lys1791Arg)
n.8322A>G
c.7958A>G (p.Lys2653Arg)
c.7154A>G (p.Lys2385Arg)
c.6959A>G (p.Lys2320Arg)
n.8316A>G
n.8262A>G
n.8371A>G
5g.37153966T>GCA359474349CPLANE1n.1146A>C
c.8147A>C (p.Lys2716Thr)
c.7985A>C (p.Lys2662Thr)
c.5159A>C (p.Lys1720Thr)
n.389A>C
n.438A>C
c.1261A>C
c.5183A>C (p.Lys1728Thr)
n.399A>C
c.8144A>C (p.Lys2715Thr)
c.8036A>C (p.Lys2679Thr)
c.8018A>C (p.Lys2673Thr)
c.4790A>C (p.Lys1597Thr)
c.2720A>C (p.Lys907Thr)
c.8093A>C (p.Lys2698Thr)
c.8039A>C (p.Lys2680Thr)
c.7829A>C (p.Lys2610Thr)
c.7475A>C (p.Lys2492Thr)
c.5372A>C (p.Lys1791Thr)
n.8322A>C
c.7958A>C (p.Lys2653Thr)
c.7154A>C (p.Lys2385Thr)
c.6959A>C (p.Lys2320Thr)
n.8316A>C
n.8262A>C
n.8371A>C
5g.37153967T>ACA359474355CPLANE1n.1145A>T
c.8146A>T (p.Lys2716Ter)
c.7984A>T (p.Lys2662Ter)
c.5158A>T (p.Lys1720Ter)
n.388A>T
n.437A>T
c.1260A>T
c.5182A>T (p.Lys1728Ter)
n.398A>T
c.8143A>T (p.Lys2715Ter)
c.8035A>T (p.Lys2679Ter)
c.8017A>T (p.Lys2673Ter)
c.4789A>T (p.Lys1597Ter)
c.2719A>T (p.Lys907Ter)
c.8092A>T (p.Lys2698Ter)
c.8038A>T (p.Lys2680Ter)
c.7828A>T (p.Lys2610Ter)
c.7474A>T (p.Lys2492Ter)
c.5371A>T (p.Lys1791Ter)
n.8321A>T
c.7957A>T (p.Lys2653Ter)
c.7153A>T (p.Lys2385Ter)
c.6958A>T (p.Lys2320Ter)
n.8315A>T
n.8261A>T
n.8370A>T
5g.37153967T>CCA359474356CPLANE1n.1145A>G
c.8146A>G (p.Lys2716Glu)
c.7984A>G (p.Lys2662Glu)
c.5158A>G (p.Lys1720Glu)
n.388A>G
n.437A>G
c.1260A>G
c.5182A>G (p.Lys1728Glu)
n.398A>G
c.8143A>G (p.Lys2715Glu)
c.8035A>G (p.Lys2679Glu)
c.8017A>G (p.Lys2673Glu)
c.4789A>G (p.Lys1597Glu)
c.2719A>G (p.Lys907Glu)
c.8092A>G (p.Lys2698Glu)
c.8038A>G (p.Lys2680Glu)
c.7828A>G (p.Lys2610Glu)
c.7474A>G (p.Lys2492Glu)
c.5371A>G (p.Lys1791Glu)
n.8321A>G
c.7957A>G (p.Lys2653Glu)
c.7153A>G (p.Lys2385Glu)
c.6958A>G (p.Lys2320Glu)
n.8315A>G
n.8261A>G
n.8370A>G
 ClinVar gnomAD v4
5g.37153967T>GCA359474357CPLANE1n.1145A>C
c.8146A>C (p.Lys2716Gln)
c.7984A>C (p.Lys2662Gln)
c.5158A>C (p.Lys1720Gln)
n.388A>C
n.437A>C
c.1260A>C
c.5182A>C (p.Lys1728Gln)
n.398A>C
c.8143A>C (p.Lys2715Gln)
c.8035A>C (p.Lys2679Gln)
c.8017A>C (p.Lys2673Gln)
c.4789A>C (p.Lys1597Gln)
c.2719A>C (p.Lys907Gln)
c.8092A>C (p.Lys2698Gln)
c.8038A>C (p.Lys2680Gln)
c.7828A>C (p.Lys2610Gln)
c.7474A>C (p.Lys2492Gln)
c.5371A>C (p.Lys1791Gln)
n.8321A>C
c.7957A>C (p.Lys2653Gln)
c.7153A>C (p.Lys2385Gln)
c.6958A>C (p.Lys2320Gln)
n.8315A>C
n.8261A>C
n.8370A>C
5g.37153968G>ACA444096467CPLANE1n.1144C>T
c.8145C>T (p.Phe2715=)
c.7983C>T (p.Phe2661=)
c.5157C>T (p.Phe1719=)
n.387C>T
n.436C>T
c.1259C>T
c.5181C>T (p.Phe1727=)
n.397C>T
c.8142C>T (p.Phe2714=)
c.8034C>T (p.Phe2678=)
c.8016C>T (p.Phe2672=)
c.4788C>T (p.Phe1596=)
c.2718C>T (p.Phe906=)
c.8091C>T (p.Phe2697=)
c.8037C>T (p.Phe2679=)
c.7827C>T (p.Phe2609=)
c.7473C>T (p.Phe2491=)
c.5370C>T (p.Phe1790=)
n.8320C>T
c.7956C>T (p.Phe2652=)
c.7152C>T (p.Phe2384=)
c.6957C>T (p.Phe2319=)
n.8314C>T
n.8260C>T
n.8369C>T
5g.37153968G>CCA359474359CPLANE1n.1144C>G
c.8145C>G (p.Phe2715Leu)
c.7983C>G (p.Phe2661Leu)
c.5157C>G (p.Phe1719Leu)
n.387C>G
n.436C>G
c.1259C>G
c.5181C>G (p.Phe1727Leu)
n.397C>G
c.8142C>G (p.Phe2714Leu)
c.8034C>G (p.Phe2678Leu)
c.8016C>G (p.Phe2672Leu)
c.4788C>G (p.Phe1596Leu)
c.2718C>G (p.Phe906Leu)
c.8091C>G (p.Phe2697Leu)
c.8037C>G (p.Phe2679Leu)
c.7827C>G (p.Phe2609Leu)
c.7473C>G (p.Phe2491Leu)
c.5370C>G (p.Phe1790Leu)
n.8320C>G
c.7956C>G (p.Phe2652Leu)
c.7152C>G (p.Phe2384Leu)
c.6957C>G (p.Phe2319Leu)
n.8314C>G
n.8260C>G
n.8369C>G
 COSMIC COSMIC
5g.37153968G>TCA359474360CPLANE1n.1144C>A
c.8145C>A (p.Phe2715Leu)
c.7983C>A (p.Phe2661Leu)
c.5157C>A (p.Phe1719Leu)
n.387C>A
n.436C>A
c.1259C>A
c.5181C>A (p.Phe1727Leu)
n.397C>A
c.8142C>A (p.Phe2714Leu)
c.8034C>A (p.Phe2678Leu)
c.8016C>A (p.Phe2672Leu)
c.4788C>A (p.Phe1596Leu)
c.2718C>A (p.Phe906Leu)
c.8091C>A (p.Phe2697Leu)
c.8037C>A (p.Phe2679Leu)
c.7827C>A (p.Phe2609Leu)
c.7473C>A (p.Phe2491Leu)
c.5370C>A (p.Phe1790Leu)
n.8320C>A
c.7956C>A (p.Phe2652Leu)
c.7152C>A (p.Phe2384Leu)
c.6957C>A (p.Phe2319Leu)
n.8314C>A
n.8260C>A
n.8369C>A
5g.37153968_37153969delCA2765914096CPLANE1n.1143_1144del
c.8144_8145del (p.Phe2715Ter)
c.7982_7983del (p.Phe2661Ter)
c.5156_5157del (p.Phe1719Ter)
n.386_387del
n.435_436del
c.1258_1259del
c.5180_5181del (p.Phe1727Ter)
n.396_397del
c.8141_8142del (p.Phe2714Ter)
c.8033_8034del (p.Phe2678Ter)
c.8015_8016del (p.Phe2672Ter)
c.4787_4788del (p.Phe1596Ter)
c.2717_2718del (p.Phe906Ter)
c.8090_8091del (p.Phe2697Ter)
c.8036_8037del (p.Phe2679Ter)
c.7826_7827del (p.Phe2609Ter)
c.7472_7473del (p.Phe2491Ter)
c.5369_5370del (p.Phe1790Ter)
n.8319_8320del
c.7955_7956del (p.Phe2652Ter)
c.7151_7152del (p.Phe2384Ter)
c.6956_6957del (p.Phe2319Ter)
n.8313_8314del
n.8259_8260del
n.8368_8369del
5g.37153969A>CCA359474362CPLANE1n.1143T>G
c.8144T>G (p.Phe2715Cys)
c.7982T>G (p.Phe2661Cys)
c.5156T>G (p.Phe1719Cys)
n.386T>G
n.435T>G
c.1258T>G
c.5180T>G (p.Phe1727Cys)
n.396T>G
c.8141T>G (p.Phe2714Cys)
c.8033T>G (p.Phe2678Cys)
c.8015T>G (p.Phe2672Cys)
c.4787T>G (p.Phe1596Cys)
c.2717T>G (p.Phe906Cys)
c.8090T>G (p.Phe2697Cys)
c.8036T>G (p.Phe2679Cys)
c.7826T>G (p.Phe2609Cys)
c.7472T>G (p.Phe2491Cys)
c.5369T>G (p.Phe1790Cys)
n.8319T>G
c.7955T>G (p.Phe2652Cys)
c.7151T>G (p.Phe2384Cys)
c.6956T>G (p.Phe2319Cys)
n.8313T>G
n.8259T>G
n.8368T>G
5g.37153969A>GCA359474364CPLANE1n.1143T>C
c.8144T>C (p.Phe2715Ser)
c.7982T>C (p.Phe2661Ser)
c.5156T>C (p.Phe1719Ser)
n.386T>C
n.435T>C
c.1258T>C
c.5180T>C (p.Phe1727Ser)
n.396T>C
c.8141T>C (p.Phe2714Ser)
c.8033T>C (p.Phe2678Ser)
c.8015T>C (p.Phe2672Ser)
c.4787T>C (p.Phe1596Ser)
c.2717T>C (p.Phe906Ser)
c.8090T>C (p.Phe2697Ser)
c.8036T>C (p.Phe2679Ser)
c.7826T>C (p.Phe2609Ser)
c.7472T>C (p.Phe2491Ser)
c.5369T>C (p.Phe1790Ser)
n.8319T>C
c.7955T>C (p.Phe2652Ser)
c.7151T>C (p.Phe2384Ser)
c.6956T>C (p.Phe2319Ser)
n.8313T>C
n.8259T>C
n.8368T>C
5g.37153969A>TCA359474365CPLANE1n.1143T>A
c.8144T>A (p.Phe2715Tyr)
c.7982T>A (p.Phe2661Tyr)
c.5156T>A (p.Phe1719Tyr)
n.386T>A
n.435T>A
c.1258T>A
c.5180T>A (p.Phe1727Tyr)
n.396T>A
c.8141T>A (p.Phe2714Tyr)
c.8033T>A (p.Phe2678Tyr)
c.8015T>A (p.Phe2672Tyr)
c.4787T>A (p.Phe1596Tyr)
c.2717T>A (p.Phe906Tyr)
c.8090T>A (p.Phe2697Tyr)
c.8036T>A (p.Phe2679Tyr)
c.7826T>A (p.Phe2609Tyr)
c.7472T>A (p.Phe2491Tyr)
c.5369T>A (p.Phe1790Tyr)
n.8319T>A
c.7955T>A (p.Phe2652Tyr)
c.7151T>A (p.Phe2384Tyr)
c.6956T>A (p.Phe2319Tyr)
n.8313T>A
n.8259T>A
n.8368T>A
5g.37153970A>CCA359474367CPLANE1n.1142T>G
c.8143T>G (p.Phe2715Val)
c.7981T>G (p.Phe2661Val)
c.5155T>G (p.Phe1719Val)
n.385T>G
n.434T>G
c.1257T>G
c.5179T>G (p.Phe1727Val)
n.395T>G
c.8140T>G (p.Phe2714Val)
c.8032T>G (p.Phe2678Val)
c.8014T>G (p.Phe2672Val)
c.4786T>G (p.Phe1596Val)
c.2716T>G (p.Phe906Val)
c.8089T>G (p.Phe2697Val)
c.8035T>G (p.Phe2679Val)
c.7825T>G (p.Phe2609Val)
c.7471T>G (p.Phe2491Val)
c.5368T>G (p.Phe1790Val)
n.8318T>G
c.7954T>G (p.Phe2652Val)
c.7150T>G (p.Phe2384Val)
c.6955T>G (p.Phe2319Val)
n.8312T>G
n.8258T>G
n.8367T>G
5g.37153970A>GCA359474369CPLANE1n.1142T>C
c.8143T>C (p.Phe2715Leu)
c.7981T>C (p.Phe2661Leu)
c.5155T>C (p.Phe1719Leu)
n.385T>C
n.434T>C
c.1257T>C
c.5179T>C (p.Phe1727Leu)
n.395T>C
c.8140T>C (p.Phe2714Leu)
c.8032T>C (p.Phe2678Leu)
c.8014T>C (p.Phe2672Leu)
c.4786T>C (p.Phe1596Leu)
c.2716T>C (p.Phe906Leu)
c.8089T>C (p.Phe2697Leu)
c.8035T>C (p.Phe2679Leu)
c.7825T>C (p.Phe2609Leu)
c.7471T>C (p.Phe2491Leu)
c.5368T>C (p.Phe1790Leu)
n.8318T>C
c.7954T>C (p.Phe2652Leu)
c.7150T>C (p.Phe2384Leu)
c.6955T>C (p.Phe2319Leu)
n.8312T>C
n.8258T>C
n.8367T>C
5g.37153970A>TCA359474371CPLANE1n.1142T>A
c.8143T>A (p.Phe2715Ile)
c.7981T>A (p.Phe2661Ile)
c.5155T>A (p.Phe1719Ile)
n.385T>A
n.434T>A
c.1257T>A
c.5179T>A (p.Phe1727Ile)
n.395T>A
c.8140T>A (p.Phe2714Ile)
c.8032T>A (p.Phe2678Ile)
c.8014T>A (p.Phe2672Ile)
c.4786T>A (p.Phe1596Ile)
c.2716T>A (p.Phe906Ile)
c.8089T>A (p.Phe2697Ile)
c.8035T>A (p.Phe2679Ile)
c.7825T>A (p.Phe2609Ile)
c.7471T>A (p.Phe2491Ile)
c.5368T>A (p.Phe1790Ile)
n.8318T>A
c.7954T>A (p.Phe2652Ile)
c.7150T>A (p.Phe2384Ile)
c.6955T>A (p.Phe2319Ile)
n.8312T>A
n.8258T>A
n.8367T>A
5g.37153970_37153971insCTCA2765914097CPLANE1n.1141_1142insAG
c.8142_8143insAG (p.Phe2715SerfsTer?)
c.7980_7981insAG (p.Phe2661SerfsTer?)
c.5154_5155insAG (p.Phe1719SerfsTer?)
n.384_385insAG
n.433_434insAG
c.1256_1257insAG
c.5178_5179insAG (p.Phe1727SerfsTer?)
n.394_395insAG
c.8139_8140insAG (p.Phe2714SerfsTer?)
c.8031_8032insAG (p.Phe2678SerfsTer?)
c.8013_8014insAG (p.Phe2672SerfsTer?)
c.4785_4786insAG (p.Phe1596SerfsTer?)
c.2715_2716insAG (p.Phe906SerfsTer?)
c.8088_8089insAG (p.Phe2697SerfsTer?)
c.8034_8035insAG (p.Phe2679SerfsTer?)
c.7824_7825insAG (p.Phe2609SerfsTer?)
c.7470_7471insAG (p.Phe2491SerfsTer?)
c.5367_5368insAG (p.Phe1790SerfsTer?)
n.8317_8318insAG
c.7953_7954insAG (p.Phe2652SerfsTer?)
c.7149_7150insAG (p.Phe2384SerfsTer?)
c.6954_6955insAG (p.Phe2319SerfsTer?)
n.8311_8312insAG
n.8257_8258insAG
n.8366_8367insAG
5g.37153971T>ACA444096472CPLANE1n.1141A>T
c.8142A>T (p.Arg2714=)
c.7980A>T (p.Arg2660=)
c.5154A>T (p.Arg1718=)
n.384A>T
n.433A>T
c.1256A>T
c.5178A>T (p.Arg1726=)
n.394A>T
c.8139A>T (p.Arg2713=)
c.8031A>T (p.Arg2677=)
c.8013A>T (p.Arg2671=)
c.4785A>T (p.Arg1595=)
c.2715A>T (p.Arg905=)
c.8088A>T (p.Arg2696=)
c.8034A>T (p.Arg2678=)
c.7824A>T (p.Arg2608=)
c.7470A>T (p.Arg2490=)
c.5367A>T (p.Arg1789=)
n.8317A>T
c.7953A>T (p.Arg2651=)
c.7149A>T (p.Arg2383=)
c.6954A>T (p.Arg2318=)
n.8311A>T
n.8257A>T
n.8366A>T
 gnomAD v4
5g.37153971T>CCA444096471CPLANE1n.1141A>G
c.8142A>G (p.Arg2714=)
c.7980A>G (p.Arg2660=)
c.5154A>G (p.Arg1718=)
n.384A>G
n.433A>G
c.1256A>G
c.5178A>G (p.Arg1726=)
n.394A>G
c.8139A>G (p.Arg2713=)
c.8031A>G (p.Arg2677=)
c.8013A>G (p.Arg2671=)
c.4785A>G (p.Arg1595=)
c.2715A>G (p.Arg905=)
c.8088A>G (p.Arg2696=)
c.8034A>G (p.Arg2678=)
c.7824A>G (p.Arg2608=)
c.7470A>G (p.Arg2490=)
c.5367A>G (p.Arg1789=)
n.8317A>G
c.7953A>G (p.Arg2651=)
c.7149A>G (p.Arg2383=)
c.6954A>G (p.Arg2318=)
n.8311A>G
n.8257A>G
n.8366A>G
5g.37153971T>GCA444096473CPLANE1n.1141A>C
c.8142A>C (p.Arg2714=)
c.7980A>C (p.Arg2660=)
c.5154A>C (p.Arg1718=)
n.384A>C
n.433A>C
c.1256A>C
c.5178A>C (p.Arg1726=)
n.394A>C
c.8139A>C (p.Arg2713=)
c.8031A>C (p.Arg2677=)
c.8013A>C (p.Arg2671=)
c.4785A>C (p.Arg1595=)
c.2715A>C (p.Arg905=)
c.8088A>C (p.Arg2696=)
c.8034A>C (p.Arg2678=)
c.7824A>C (p.Arg2608=)
c.7470A>C (p.Arg2490=)
c.5367A>C (p.Arg1789=)
n.8317A>C
c.7953A>C (p.Arg2651=)
c.7149A>C (p.Arg2383=)
c.6954A>C (p.Arg2318=)
n.8311A>C
n.8257A>C
n.8366A>C
5g.37153972C>ACA359474372CPLANE1n.1140G>T
c.8141G>T (p.Arg2714Leu)
c.7979G>T (p.Arg2660Leu)
c.5153G>T (p.Arg1718Leu)
n.383G>T
n.432G>T
c.1255G>T
c.5177G>T (p.Arg1726Leu)
n.393G>T
c.8138G>T (p.Arg2713Leu)
c.8030G>T (p.Arg2677Leu)
c.8012G>T (p.Arg2671Leu)
c.4784G>T (p.Arg1595Leu)
c.2714G>T (p.Arg905Leu)
c.8087G>T (p.Arg2696Leu)
c.8033G>T (p.Arg2678Leu)
c.7823G>T (p.Arg2608Leu)
c.7469G>T (p.Arg2490Leu)
c.5366G>T (p.Arg1789Leu)
n.8316G>T
c.7952G>T (p.Arg2651Leu)
c.7148G>T (p.Arg2383Leu)
c.6953G>T (p.Arg2318Leu)
n.8310G>T
n.8256G>T
n.8365G>T
5g.37153972C=CA1539651447CPLANE1n.1140G=
c.8141G= (p.Arg2714=)
c.7979G= (p.Arg2660=)
c.5153G= (p.Arg1718=)
n.383G=
n.432G=
c.1255G=
c.5177G= (p.Arg1726=)
n.393G=
c.8138G= (p.Arg2713=)
c.8030G= (p.Arg2677=)
c.8012G= (p.Arg2671=)
c.4784G= (p.Arg1595=)
c.2714G= (p.Arg905=)
c.8087G= (p.Arg2696=)
c.8033G= (p.Arg2678=)
c.7823G= (p.Arg2608=)
c.7469G= (p.Arg2490=)
c.5366G= (p.Arg1789=)
n.8316G=
c.7952G= (p.Arg2651=)
c.7148G= (p.Arg2383=)
c.6953G= (p.Arg2318=)
n.8310G=
n.8256G=
n.8365G=
5g.37153972C>GCA359474374CPLANE1n.1140G>C
c.8141G>C (p.Arg2714Pro)
c.7979G>C (p.Arg2660Pro)
c.5153G>C (p.Arg1718Pro)
n.383G>C
n.432G>C
c.1255G>C
c.5177G>C (p.Arg1726Pro)
n.393G>C
c.8138G>C (p.Arg2713Pro)
c.8030G>C (p.Arg2677Pro)
c.8012G>C (p.Arg2671Pro)
c.4784G>C (p.Arg1595Pro)
c.2714G>C (p.Arg905Pro)
c.8087G>C (p.Arg2696Pro)
c.8033G>C (p.Arg2678Pro)
c.7823G>C (p.Arg2608Pro)
c.7469G>C (p.Arg2490Pro)
c.5366G>C (p.Arg1789Pro)
n.8316G>C
c.7952G>C (p.Arg2651Pro)
c.7148G>C (p.Arg2383Pro)
c.6953G>C (p.Arg2318Pro)
n.8310G>C
n.8256G>C
n.8365G>C
5g.37153972C>TCA3237852CPLANE1n.1140G>A
c.8141G>A (p.Arg2714Gln)
c.7979G>A (p.Arg2660Gln)
c.5153G>A (p.Arg1718Gln)
n.383G>A
n.432G>A
c.1255G>A
c.5177G>A (p.Arg1726Gln)
n.393G>A
c.8138G>A (p.Arg2713Gln)
c.8030G>A (p.Arg2677Gln)
c.8012G>A (p.Arg2671Gln)
c.4784G>A (p.Arg1595Gln)
c.2714G>A (p.Arg905Gln)
c.8087G>A (p.Arg2696Gln)
c.8033G>A (p.Arg2678Gln)
c.7823G>A (p.Arg2608Gln)
c.7469G>A (p.Arg2490Gln)
c.5366G>A (p.Arg1789Gln)
n.8316G>A
c.7952G>A (p.Arg2651Gln)
c.7148G>A (p.Arg2383Gln)
c.6953G>A (p.Arg2318Gln)
n.8310G>A
n.8256G>A
n.8365G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37153972_37153973insAGTCA2765914098CPLANE1n.1139_1140insACT
c.8140_8141insACT (p.Arg2714HisfsTer2)
c.7978_7979insACT (p.Arg2660HisfsTer2)
c.5152_5153insACT (p.Arg1718HisfsTer2)
n.382_383insACT
n.431_432insACT
c.1254_1255insACT
c.5176_5177insACT (p.Arg1726HisfsTer2)
n.392_393insACT
c.8137_8138insACT (p.Arg2713HisfsTer2)
c.8029_8030insACT (p.Arg2677HisfsTer2)
c.8011_8012insACT (p.Arg2671HisfsTer2)
c.4783_4784insACT (p.Arg1595HisfsTer2)
c.2713_2714insACT (p.Arg905HisfsTer2)
c.8086_8087insACT (p.Arg2696HisfsTer2)
c.8032_8033insACT (p.Arg2678HisfsTer2)
c.7822_7823insACT (p.Arg2608HisfsTer2)
c.7468_7469insACT (p.Arg2490HisfsTer2)
c.5365_5366insACT (p.Arg1789HisfsTer2)
n.8315_8316insACT
c.7951_7952insACT (p.Arg2651HisfsTer2)
c.7147_7148insACT (p.Arg2383HisfsTer2)
c.6952_6953insACT (p.Arg2318HisfsTer2)
n.8309_8310insACT
n.8255_8256insACT
n.8364_8365insACT
5g.37153973G>ACA277737CPLANE1n.1139C>T
c.8140C>T (p.Arg2714Ter)
c.7978C>T (p.Arg2660Ter)
c.5152C>T (p.Arg1718Ter)
n.382C>T
n.431C>T
c.1254C>T
c.5176C>T (p.Arg1726Ter)
n.392C>T
c.8137C>T (p.Arg2713Ter)
c.8029C>T (p.Arg2677Ter)
c.8011C>T (p.Arg2671Ter)
c.4783C>T (p.Arg1595Ter)
c.2713C>T (p.Arg905Ter)
c.8086C>T (p.Arg2696Ter)
c.8032C>T (p.Arg2678Ter)
c.7822C>T (p.Arg2608Ter)
c.7468C>T (p.Arg2490Ter)
c.5365C>T (p.Arg1789Ter)
n.8315C>T
c.7951C>T (p.Arg2651Ter)
c.7147C>T (p.Arg2383Ter)
c.6952C>T (p.Arg2318Ter)
n.8309C>T
n.8255C>T
n.8364C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.37153973G>CCA359474377CPLANE1n.1139C>G
c.8140C>G (p.Arg2714Gly)
c.7978C>G (p.Arg2660Gly)
c.5152C>G (p.Arg1718Gly)
n.382C>G
n.431C>G
c.1254C>G
c.5176C>G (p.Arg1726Gly)
n.392C>G
c.8137C>G (p.Arg2713Gly)
c.8029C>G (p.Arg2677Gly)
c.8011C>G (p.Arg2671Gly)
c.4783C>G (p.Arg1595Gly)
c.2713C>G (p.Arg905Gly)
c.8086C>G (p.Arg2696Gly)
c.8032C>G (p.Arg2678Gly)
c.7822C>G (p.Arg2608Gly)
c.7468C>G (p.Arg2490Gly)
c.5365C>G (p.Arg1789Gly)
n.8315C>G
c.7951C>G (p.Arg2651Gly)
c.7147C>G (p.Arg2383Gly)
c.6952C>G (p.Arg2318Gly)
n.8309C>G
n.8255C>G
n.8364C>G
 gnomAD v4
5g.37153973G=CA1539651459CPLANE1n.1139C=
c.8140C= (p.Arg2714=)
c.7978C= (p.Arg2660=)
c.5152C= (p.Arg1718=)
n.382C=
n.431C=
c.1254C=
c.5176C= (p.Arg1726=)
n.392C=
c.8137C= (p.Arg2713=)
c.8029C= (p.Arg2677=)
c.8011C= (p.Arg2671=)
c.4783C= (p.Arg1595=)
c.2713C= (p.Arg905=)
c.8086C= (p.Arg2696=)
c.8032C= (p.Arg2678=)
c.7822C= (p.Arg2608=)
c.7468C= (p.Arg2490=)
c.5365C= (p.Arg1789=)
n.8315C=
c.7951C= (p.Arg2651=)
c.7147C= (p.Arg2383=)
c.6952C= (p.Arg2318=)
n.8309C=
n.8255C=
n.8364C=
5g.37153973G>TCA444096474CPLANE1n.1139C>A
c.8140C>A (p.Arg2714=)
c.7978C>A (p.Arg2660=)
c.5152C>A (p.Arg1718=)
n.382C>A
n.431C>A
c.1254C>A
c.5176C>A (p.Arg1726=)
n.392C>A
c.8137C>A (p.Arg2713=)
c.8029C>A (p.Arg2677=)
c.8011C>A (p.Arg2671=)
c.4783C>A (p.Arg1595=)
c.2713C>A (p.Arg905=)
c.8086C>A (p.Arg2696=)
c.8032C>A (p.Arg2678=)
c.7822C>A (p.Arg2608=)
c.7468C>A (p.Arg2490=)
c.5365C>A (p.Arg1789=)
n.8315C>A
c.7951C>A (p.Arg2651=)
c.7147C>A (p.Arg2383=)
c.6952C>A (p.Arg2318=)
n.8309C>A
n.8255C>A
n.8364C>A
5g.37153974G>ACA444096475CPLANE1n.1138C>T
c.8139C>T (p.Phe2713=)
c.7977C>T (p.Phe2659=)
c.5151C>T (p.Phe1717=)
n.381C>T
n.430C>T
c.1253C>T
c.5175C>T (p.Phe1725=)
n.391C>T
c.8136C>T (p.Phe2712=)
c.8028C>T (p.Phe2676=)
c.8010C>T (p.Phe2670=)
c.4782C>T (p.Phe1594=)
c.2712C>T (p.Phe904=)
c.8085C>T (p.Phe2695=)
c.8031C>T (p.Phe2677=)
c.7821C>T (p.Phe2607=)
c.7467C>T (p.Phe2489=)
c.5364C>T (p.Phe1788=)
n.8314C>T
c.7950C>T (p.Phe2650=)
c.7146C>T (p.Phe2382=)
c.6951C>T (p.Phe2317=)
n.8308C>T
n.8254C>T
n.8363C>T
 COSMIC COSMIC
5g.37153974G>CCA117043137CPLANE1n.1138C>G
c.8139C>G (p.Phe2713Leu)
c.7977C>G (p.Phe2659Leu)
c.5151C>G (p.Phe1717Leu)
n.381C>G
n.430C>G
c.1253C>G
c.5175C>G (p.Phe1725Leu)
n.391C>G
c.8136C>G (p.Phe2712Leu)
c.8028C>G (p.Phe2676Leu)
c.8010C>G (p.Phe2670Leu)
c.4782C>G (p.Phe1594Leu)
c.2712C>G (p.Phe904Leu)
c.8085C>G (p.Phe2695Leu)
c.8031C>G (p.Phe2677Leu)
c.7821C>G (p.Phe2607Leu)
c.7467C>G (p.Phe2489Leu)
c.5364C>G (p.Phe1788Leu)
n.8314C>G
c.7950C>G (p.Phe2650Leu)
c.7146C>G (p.Phe2382Leu)
c.6951C>G (p.Phe2317Leu)
n.8308C>G
n.8254C>G
n.8363C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37153974G=CA1539651464CPLANE1n.1138C=
c.8139C= (p.Phe2713=)
c.7977C= (p.Phe2659=)
c.5151C= (p.Phe1717=)
n.381C=
n.430C=
c.1253C=
c.5175C= (p.Phe1725=)
n.391C=
c.8136C= (p.Phe2712=)
c.8028C= (p.Phe2676=)
c.8010C= (p.Phe2670=)
c.4782C= (p.Phe1594=)
c.2712C= (p.Phe904=)
c.8085C= (p.Phe2695=)
c.8031C= (p.Phe2677=)
c.7821C= (p.Phe2607=)
c.7467C= (p.Phe2489=)
c.5364C= (p.Phe1788=)
n.8314C=
c.7950C= (p.Phe2650=)
c.7146C= (p.Phe2382=)
c.6951C= (p.Phe2317=)
n.8308C=
n.8254C=
n.8363C=
5g.37153974G>TCA359474378CPLANE1n.1138C>A
c.8139C>A (p.Phe2713Leu)
c.7977C>A (p.Phe2659Leu)
c.5151C>A (p.Phe1717Leu)
n.381C>A
n.430C>A
c.1253C>A
c.5175C>A (p.Phe1725Leu)
n.391C>A
c.8136C>A (p.Phe2712Leu)
c.8028C>A (p.Phe2676Leu)
c.8010C>A (p.Phe2670Leu)
c.4782C>A (p.Phe1594Leu)
c.2712C>A (p.Phe904Leu)
c.8085C>A (p.Phe2695Leu)
c.8031C>A (p.Phe2677Leu)
c.7821C>A (p.Phe2607Leu)
c.7467C>A (p.Phe2489Leu)
c.5364C>A (p.Phe1788Leu)
n.8314C>A
c.7950C>A (p.Phe2650Leu)
c.7146C>A (p.Phe2382Leu)
c.6951C>A (p.Phe2317Leu)
n.8308C>A
n.8254C>A
n.8363C>A
5g.37153975A>CCA359474379CPLANE1n.1137T>G
c.8138T>G (p.Phe2713Cys)
c.7976T>G (p.Phe2659Cys)
c.5150T>G (p.Phe1717Cys)
n.380T>G
n.429T>G
c.1252T>G
c.5174T>G (p.Phe1725Cys)
n.390T>G
c.8135T>G (p.Phe2712Cys)
c.8027T>G (p.Phe2676Cys)
c.8009T>G (p.Phe2670Cys)
c.4781T>G (p.Phe1594Cys)
c.2711T>G (p.Phe904Cys)
c.8084T>G (p.Phe2695Cys)
c.8030T>G (p.Phe2677Cys)
c.7820T>G (p.Phe2607Cys)
c.7466T>G (p.Phe2489Cys)
c.5363T>G (p.Phe1788Cys)
n.8313T>G
c.7949T>G (p.Phe2650Cys)
c.7145T>G (p.Phe2382Cys)
c.6950T>G (p.Phe2317Cys)
n.8307T>G
n.8253T>G
n.8362T>G
5g.37153975A>GCA359474381CPLANE1n.1137T>C
c.8138T>C (p.Phe2713Ser)
c.7976T>C (p.Phe2659Ser)
c.5150T>C (p.Phe1717Ser)
n.380T>C
n.429T>C
c.1252T>C
c.5174T>C (p.Phe1725Ser)
n.390T>C
c.8135T>C (p.Phe2712Ser)
c.8027T>C (p.Phe2676Ser)
c.8009T>C (p.Phe2670Ser)
c.4781T>C (p.Phe1594Ser)
c.2711T>C (p.Phe904Ser)
c.8084T>C (p.Phe2695Ser)
c.8030T>C (p.Phe2677Ser)
c.7820T>C (p.Phe2607Ser)
c.7466T>C (p.Phe2489Ser)
c.5363T>C (p.Phe1788Ser)
n.8313T>C
c.7949T>C (p.Phe2650Ser)
c.7145T>C (p.Phe2382Ser)
c.6950T>C (p.Phe2317Ser)
n.8307T>C
n.8253T>C
n.8362T>C
5g.37153975A>TCA359474383CPLANE1n.1137T>A
c.8138T>A (p.Phe2713Tyr)
c.7976T>A (p.Phe2659Tyr)
c.5150T>A (p.Phe1717Tyr)
n.380T>A
n.429T>A
c.1252T>A
c.5174T>A (p.Phe1725Tyr)
n.390T>A
c.8135T>A (p.Phe2712Tyr)
c.8027T>A (p.Phe2676Tyr)
c.8009T>A (p.Phe2670Tyr)
c.4781T>A (p.Phe1594Tyr)
c.2711T>A (p.Phe904Tyr)
c.8084T>A (p.Phe2695Tyr)
c.8030T>A (p.Phe2677Tyr)
c.7820T>A (p.Phe2607Tyr)
c.7466T>A (p.Phe2489Tyr)
c.5363T>A (p.Phe1788Tyr)
n.8313T>A
c.7949T>A (p.Phe2650Tyr)
c.7145T>A (p.Phe2382Tyr)
c.6950T>A (p.Phe2317Tyr)
n.8307T>A
n.8253T>A
n.8362T>A
5g.37153976A>CCA359474385CPLANE1n.1136T>G
c.8137T>G (p.Phe2713Val)
c.7975T>G (p.Phe2659Val)
c.5149T>G (p.Phe1717Val)
n.379T>G
n.428T>G
c.1251T>G
c.5173T>G (p.Phe1725Val)
n.389T>G
c.8134T>G (p.Phe2712Val)
c.8026T>G (p.Phe2676Val)
c.8008T>G (p.Phe2670Val)
c.4780T>G (p.Phe1594Val)
c.2710T>G (p.Phe904Val)
c.8083T>G (p.Phe2695Val)
c.8029T>G (p.Phe2677Val)
c.7819T>G (p.Phe2607Val)
c.7465T>G (p.Phe2489Val)
c.5362T>G (p.Phe1788Val)
n.8312T>G
c.7948T>G (p.Phe2650Val)
c.7144T>G (p.Phe2382Val)
c.6949T>G (p.Phe2317Val)
n.8306T>G
n.8252T>G
n.8361T>G
5g.37153976A>GCA359474387CPLANE1n.1136T>C
c.8137T>C (p.Phe2713Leu)
c.7975T>C (p.Phe2659Leu)
c.5149T>C (p.Phe1717Leu)
n.379T>C
n.428T>C
c.1251T>C
c.5173T>C (p.Phe1725Leu)
n.389T>C
c.8134T>C (p.Phe2712Leu)
c.8026T>C (p.Phe2676Leu)
c.8008T>C (p.Phe2670Leu)
c.4780T>C (p.Phe1594Leu)
c.2710T>C (p.Phe904Leu)
c.8083T>C (p.Phe2695Leu)
c.8029T>C (p.Phe2677Leu)
c.7819T>C (p.Phe2607Leu)
c.7465T>C (p.Phe2489Leu)
c.5362T>C (p.Phe1788Leu)
n.8312T>C
c.7948T>C (p.Phe2650Leu)
c.7144T>C (p.Phe2382Leu)
c.6949T>C (p.Phe2317Leu)
n.8306T>C
n.8252T>C
n.8361T>C
5g.37153976A>TCA359474389CPLANE1n.1136T>A
c.8137T>A (p.Phe2713Ile)
c.7975T>A (p.Phe2659Ile)
c.5149T>A (p.Phe1717Ile)
n.379T>A
n.428T>A
c.1251T>A
c.5173T>A (p.Phe1725Ile)
n.389T>A
c.8134T>A (p.Phe2712Ile)
c.8026T>A (p.Phe2676Ile)
c.8008T>A (p.Phe2670Ile)
c.4780T>A (p.Phe1594Ile)
c.2710T>A (p.Phe904Ile)
c.8083T>A (p.Phe2695Ile)
c.8029T>A (p.Phe2677Ile)
c.7819T>A (p.Phe2607Ile)
c.7465T>A (p.Phe2489Ile)
c.5362T>A (p.Phe1788Ile)
n.8312T>A
c.7948T>A (p.Phe2650Ile)
c.7144T>A (p.Phe2382Ile)
c.6949T>A (p.Phe2317Ile)
n.8306T>A
n.8252T>A
n.8361T>A
 ClinVar
5g.37153977C>ACA359474391CPLANE1n.1135G>T
c.8136G>T (p.Glu2712Asp)
c.7974G>T (p.Glu2658Asp)
c.5148G>T (p.Glu1716Asp)
n.378G>T
n.427G>T
c.1250G>T
c.5172G>T (p.Glu1724Asp)
n.388G>T
c.8133G>T (p.Glu2711Asp)
c.8025G>T (p.Glu2675Asp)
c.8007G>T (p.Glu2669Asp)
c.4779G>T (p.Glu1593Asp)
c.2709G>T (p.Glu903Asp)
c.8082G>T (p.Glu2694Asp)
c.8028G>T (p.Glu2676Asp)
c.7818G>T (p.Glu2606Asp)
c.7464G>T (p.Glu2488Asp)
c.5361G>T (p.Glu1787Asp)
n.8311G>T
c.7947G>T (p.Glu2649Asp)
c.7143G>T (p.Glu2381Asp)
c.6948G>T (p.Glu2316Asp)
n.8305G>T
n.8251G>T
n.8360G>T
5g.37153977C=CA1539651469CPLANE1n.1135G=
c.8136G= (p.Glu2712=)
c.7974G= (p.Glu2658=)
c.5148G= (p.Glu1716=)
n.378G=
n.427G=
c.1250G=
c.5172G= (p.Glu1724=)
n.388G=
c.8133G= (p.Glu2711=)
c.8025G= (p.Glu2675=)
c.8007G= (p.Glu2669=)
c.4779G= (p.Glu1593=)
c.2709G= (p.Glu903=)
c.8082G= (p.Glu2694=)
c.8028G= (p.Glu2676=)
c.7818G= (p.Glu2606=)
c.7464G= (p.Glu2488=)
c.5361G= (p.Glu1787=)
n.8311G=
c.7947G= (p.Glu2649=)
c.7143G= (p.Glu2381=)
c.6948G= (p.Glu2316=)
n.8305G=
n.8251G=
n.8360G=
5g.37153977C>GCA359474392CPLANE1n.1135G>C
c.8136G>C (p.Glu2712Asp)
c.7974G>C (p.Glu2658Asp)
c.5148G>C (p.Glu1716Asp)
n.378G>C
n.427G>C
c.1250G>C
c.5172G>C (p.Glu1724Asp)
n.388G>C
c.8133G>C (p.Glu2711Asp)
c.8025G>C (p.Glu2675Asp)
c.8007G>C (p.Glu2669Asp)
c.4779G>C (p.Glu1593Asp)
c.2709G>C (p.Glu903Asp)
c.8082G>C (p.Glu2694Asp)
c.8028G>C (p.Glu2676Asp)
c.7818G>C (p.Glu2606Asp)
c.7464G>C (p.Glu2488Asp)
c.5361G>C (p.Glu1787Asp)
n.8311G>C
c.7947G>C (p.Glu2649Asp)
c.7143G>C (p.Glu2381Asp)
c.6948G>C (p.Glu2316Asp)
n.8305G>C
n.8251G>C
n.8360G>C
5g.37153977C>TCA444096478CPLANE1n.1135G>A
c.8136G>A (p.Glu2712=)
c.7974G>A (p.Glu2658=)
c.5148G>A (p.Glu1716=)
n.378G>A
n.427G>A
c.1250G>A
c.5172G>A (p.Glu1724=)
n.388G>A
c.8133G>A (p.Glu2711=)
c.8025G>A (p.Glu2675=)
c.8007G>A (p.Glu2669=)
c.4779G>A (p.Glu1593=)
c.2709G>A (p.Glu903=)
c.8082G>A (p.Glu2694=)
c.8028G>A (p.Glu2676=)
c.7818G>A (p.Glu2606=)
c.7464G>A (p.Glu2488=)
c.5361G>A (p.Glu1787=)
n.8311G>A
c.7947G>A (p.Glu2649=)
c.7143G>A (p.Glu2381=)
c.6948G>A (p.Glu2316=)
n.8305G>A
n.8251G>A
n.8360G>A
 dbSNP
5g.37153978T>ACA359474393CPLANE1n.1134A>T
c.8135A>T (p.Glu2712Val)
c.7973A>T (p.Glu2658Val)
c.5147A>T (p.Glu1716Val)
n.377A>T
n.426A>T
c.1249A>T
c.5171A>T (p.Glu1724Val)
n.387A>T
c.8132A>T (p.Glu2711Val)
c.8024A>T (p.Glu2675Val)
c.8006A>T (p.Glu2669Val)
c.4778A>T (p.Glu1593Val)
c.2708A>T (p.Glu903Val)
c.8081A>T (p.Glu2694Val)
c.8027A>T (p.Glu2676Val)
c.7817A>T (p.Glu2606Val)
c.7463A>T (p.Glu2488Val)
c.5360A>T (p.Glu1787Val)
n.8310A>T
c.7946A>T (p.Glu2649Val)
c.7142A>T (p.Glu2381Val)
c.6947A>T (p.Glu2316Val)
n.8304A>T
n.8250A>T
n.8359A>T
5g.37153978T>CCA359474394CPLANE1n.1134A>G
c.8135A>G (p.Glu2712Gly)
c.7973A>G (p.Glu2658Gly)
c.5147A>G (p.Glu1716Gly)
n.377A>G
n.426A>G
c.1249A>G
c.5171A>G (p.Glu1724Gly)
n.387A>G
c.8132A>G (p.Glu2711Gly)
c.8024A>G (p.Glu2675Gly)
c.8006A>G (p.Glu2669Gly)
c.4778A>G (p.Glu1593Gly)
c.2708A>G (p.Glu903Gly)
c.8081A>G (p.Glu2694Gly)
c.8027A>G (p.Glu2676Gly)
c.7817A>G (p.Glu2606Gly)
c.7463A>G (p.Glu2488Gly)
c.5360A>G (p.Glu1787Gly)
n.8310A>G
c.7946A>G (p.Glu2649Gly)
c.7142A>G (p.Glu2381Gly)
c.6947A>G (p.Glu2316Gly)
n.8304A>G
n.8250A>G
n.8359A>G
 gnomAD v4
5g.37153978T>GCA359474396CPLANE1n.1134A>C
c.8135A>C (p.Glu2712Ala)
c.7973A>C (p.Glu2658Ala)
c.5147A>C (p.Glu1716Ala)
n.377A>C
n.426A>C
c.1249A>C
c.5171A>C (p.Glu1724Ala)
n.387A>C
c.8132A>C (p.Glu2711Ala)
c.8024A>C (p.Glu2675Ala)
c.8006A>C (p.Glu2669Ala)
c.4778A>C (p.Glu1593Ala)
c.2708A>C (p.Glu903Ala)
c.8081A>C (p.Glu2694Ala)
c.8027A>C (p.Glu2676Ala)
c.7817A>C (p.Glu2606Ala)
c.7463A>C (p.Glu2488Ala)
c.5360A>C (p.Glu1787Ala)
n.8310A>C
c.7946A>C (p.Glu2649Ala)
c.7142A>C (p.Glu2381Ala)
c.6947A>C (p.Glu2316Ala)
n.8304A>C
n.8250A>C
n.8359A>C
5g.37153979C>ACA359474400CPLANE1n.1133G>T
c.8134G>T (p.Glu2712Ter)
c.7972G>T (p.Glu2658Ter)
c.5146G>T (p.Glu1716Ter)
n.376G>T
n.425G>T
c.1248G>T
c.5170G>T (p.Glu1724Ter)
n.386G>T
c.8131G>T (p.Glu2711Ter)
c.8023G>T (p.Glu2675Ter)
c.8005G>T (p.Glu2669Ter)
c.4777G>T (p.Glu1593Ter)
c.2707G>T (p.Glu903Ter)
c.8080G>T (p.Glu2694Ter)
c.8026G>T (p.Glu2676Ter)
c.7816G>T (p.Glu2606Ter)
c.7462G>T (p.Glu2488Ter)
c.5359G>T (p.Glu1787Ter)
n.8309G>T
c.7945G>T (p.Glu2649Ter)
c.7141G>T (p.Glu2381Ter)
c.6946G>T (p.Glu2316Ter)
n.8303G>T
n.8249G>T
n.8358G>T
5g.37153979C>GCA359474399CPLANE1n.1133G>C
c.8134G>C (p.Glu2712Gln)
c.7972G>C (p.Glu2658Gln)
c.5146G>C (p.Glu1716Gln)
n.376G>C
n.425G>C
c.1248G>C
c.5170G>C (p.Glu1724Gln)
n.386G>C
c.8131G>C (p.Glu2711Gln)
c.8023G>C (p.Glu2675Gln)
c.8005G>C (p.Glu2669Gln)
c.4777G>C (p.Glu1593Gln)
c.2707G>C (p.Glu903Gln)
c.8080G>C (p.Glu2694Gln)
c.8026G>C (p.Glu2676Gln)
c.7816G>C (p.Glu2606Gln)
c.7462G>C (p.Glu2488Gln)
c.5359G>C (p.Glu1787Gln)
n.8309G>C
c.7945G>C (p.Glu2649Gln)
c.7141G>C (p.Glu2381Gln)
c.6946G>C (p.Glu2316Gln)
n.8303G>C
n.8249G>C
n.8358G>C
5g.37153979C>TCA359474397CPLANE1n.1133G>A
c.8134G>A (p.Glu2712Lys)
c.7972G>A (p.Glu2658Lys)
c.5146G>A (p.Glu1716Lys)
n.376G>A
n.425G>A
c.1248G>A
c.5170G>A (p.Glu1724Lys)
n.386G>A
c.8131G>A (p.Glu2711Lys)
c.8023G>A (p.Glu2675Lys)
c.8005G>A (p.Glu2669Lys)
c.4777G>A (p.Glu1593Lys)
c.2707G>A (p.Glu903Lys)
c.8080G>A (p.Glu2694Lys)
c.8026G>A (p.Glu2676Lys)
c.7816G>A (p.Glu2606Lys)
c.7462G>A (p.Glu2488Lys)
c.5359G>A (p.Glu1787Lys)
n.8309G>A
c.7945G>A (p.Glu2649Lys)
c.7141G>A (p.Glu2381Lys)
c.6946G>A (p.Glu2316Lys)
n.8303G>A
n.8249G>A
n.8358G>A
5g.37153980T>ACA444096479CPLANE1n.1132A>T
c.8133A>T (p.Pro2711=)
c.7971A>T (p.Pro2657=)
c.5145A>T (p.Pro1715=)
n.375A>T
n.424A>T
c.1247A>T
c.5169A>T (p.Pro1723=)
n.385A>T
c.8130A>T (p.Pro2710=)
c.8022A>T (p.Pro2674=)
c.8004A>T (p.Pro2668=)
c.4776A>T (p.Pro1592=)
c.2706A>T (p.Pro902=)
c.8079A>T (p.Pro2693=)
c.8025A>T (p.Pro2675=)
c.7815A>T (p.Pro2605=)
c.7461A>T (p.Pro2487=)
c.5358A>T (p.Pro1786=)
n.8308A>T
c.7944A>T (p.Pro2648=)
c.7140A>T (p.Pro2380=)
c.6945A>T (p.Pro2315=)
n.8302A>T
n.8248A>T
n.8357A>T
5g.37153980T>CCA444096480CPLANE1n.1132A>G
c.8133A>G (p.Pro2711=)
c.7971A>G (p.Pro2657=)
c.5145A>G (p.Pro1715=)
n.375A>G
n.424A>G
c.1247A>G
c.5169A>G (p.Pro1723=)
n.385A>G
c.8130A>G (p.Pro2710=)
c.8022A>G (p.Pro2674=)
c.8004A>G (p.Pro2668=)
c.4776A>G (p.Pro1592=)
c.2706A>G (p.Pro902=)
c.8079A>G (p.Pro2693=)
c.8025A>G (p.Pro2675=)
c.7815A>G (p.Pro2605=)
c.7461A>G (p.Pro2487=)
c.5358A>G (p.Pro1786=)
n.8308A>G
c.7944A>G (p.Pro2648=)
c.7140A>G (p.Pro2380=)
c.6945A>G (p.Pro2315=)
n.8302A>G
n.8248A>G
n.8357A>G
 dbSNP gnomAD v3 gnomAD v4
5g.37153980T>GCA444096481CPLANE1n.1132A>C
c.8133A>C (p.Pro2711=)
c.7971A>C (p.Pro2657=)
c.5145A>C (p.Pro1715=)
n.375A>C
n.424A>C
c.1247A>C
c.5169A>C (p.Pro1723=)
n.385A>C
c.8130A>C (p.Pro2710=)
c.8022A>C (p.Pro2674=)
c.8004A>C (p.Pro2668=)
c.4776A>C (p.Pro1592=)
c.2706A>C (p.Pro902=)
c.8079A>C (p.Pro2693=)
c.8025A>C (p.Pro2675=)
c.7815A>C (p.Pro2605=)
c.7461A>C (p.Pro2487=)
c.5358A>C (p.Pro1786=)
n.8308A>C
c.7944A>C (p.Pro2648=)
c.7140A>C (p.Pro2380=)
c.6945A>C (p.Pro2315=)
n.8302A>C
n.8248A>C
n.8357A>C
5g.37153980T=CA1539651474CPLANE1n.1132A=
c.8133A= (p.Pro2711=)
c.7971A= (p.Pro2657=)
c.5145A= (p.Pro1715=)
n.375A=
n.424A=
c.1247A=
c.5169A= (p.Pro1723=)
n.385A=
c.8130A= (p.Pro2710=)
c.8022A= (p.Pro2674=)
c.8004A= (p.Pro2668=)
c.4776A= (p.Pro1592=)
c.2706A= (p.Pro902=)
c.8079A= (p.Pro2693=)
c.8025A= (p.Pro2675=)
c.7815A= (p.Pro2605=)
c.7461A= (p.Pro2487=)
c.5358A= (p.Pro1786=)
n.8308A=
c.7944A= (p.Pro2648=)
c.7140A= (p.Pro2380=)
c.6945A= (p.Pro2315=)
n.8302A=
n.8248A=
n.8357A=
5g.37153981G>ACA359474402CPLANE1n.1131C>T
c.8132C>T (p.Pro2711Leu)
c.7970C>T (p.Pro2657Leu)
c.5144C>T (p.Pro1715Leu)
n.374C>T
n.423C>T
c.1246C>T
c.5168C>T (p.Pro1723Leu)
n.384C>T
c.8129C>T (p.Pro2710Leu)
c.8021C>T (p.Pro2674Leu)
c.8003C>T (p.Pro2668Leu)
c.4775C>T (p.Pro1592Leu)
c.2705C>T (p.Pro902Leu)
c.8078C>T (p.Pro2693Leu)
c.8024C>T (p.Pro2675Leu)
c.7814C>T (p.Pro2605Leu)
c.7460C>T (p.Pro2487Leu)
c.5357C>T (p.Pro1786Leu)
n.8307C>T
c.7943C>T (p.Pro2648Leu)
c.7139C>T (p.Pro2380Leu)
c.6944C>T (p.Pro2315Leu)
n.8301C>T
n.8247C>T
n.8356C>T
5g.37153981G>CCA359474404CPLANE1n.1131C>G
c.8132C>G (p.Pro2711Arg)
c.7970C>G (p.Pro2657Arg)
c.5144C>G (p.Pro1715Arg)
n.374C>G
n.423C>G
c.1246C>G
c.5168C>G (p.Pro1723Arg)
n.384C>G
c.8129C>G (p.Pro2710Arg)
c.8021C>G (p.Pro2674Arg)
c.8003C>G (p.Pro2668Arg)
c.4775C>G (p.Pro1592Arg)
c.2705C>G (p.Pro902Arg)
c.8078C>G (p.Pro2693Arg)
c.8024C>G (p.Pro2675Arg)
c.7814C>G (p.Pro2605Arg)
c.7460C>G (p.Pro2487Arg)
c.5357C>G (p.Pro1786Arg)
n.8307C>G
c.7943C>G (p.Pro2648Arg)
c.7139C>G (p.Pro2380Arg)
c.6944C>G (p.Pro2315Arg)
n.8301C>G
n.8247C>G
n.8356C>G
5g.37153981G>TCA359474403CPLANE1n.1131C>A
c.8132C>A (p.Pro2711Gln)
c.7970C>A (p.Pro2657Gln)
c.5144C>A (p.Pro1715Gln)
n.374C>A
n.423C>A
c.1246C>A
c.5168C>A (p.Pro1723Gln)
n.384C>A
c.8129C>A (p.Pro2710Gln)
c.8021C>A (p.Pro2674Gln)
c.8003C>A (p.Pro2668Gln)
c.4775C>A (p.Pro1592Gln)
c.2705C>A (p.Pro902Gln)
c.8078C>A (p.Pro2693Gln)
c.8024C>A (p.Pro2675Gln)
c.7814C>A (p.Pro2605Gln)
c.7460C>A (p.Pro2487Gln)
c.5357C>A (p.Pro1786Gln)
n.8307C>A
c.7943C>A (p.Pro2648Gln)
c.7139C>A (p.Pro2380Gln)
c.6944C>A (p.Pro2315Gln)
n.8301C>A
n.8247C>A
n.8356C>A
5g.37153982G>ACA359474407CPLANE1n.1130C>T
c.8131C>T (p.Pro2711Ser)
c.7969C>T (p.Pro2657Ser)
c.5143C>T (p.Pro1715Ser)
n.373C>T
n.422C>T
c.1245C>T
c.5167C>T (p.Pro1723Ser)
n.383C>T
c.8128C>T (p.Pro2710Ser)
c.8020C>T (p.Pro2674Ser)
c.8002C>T (p.Pro2668Ser)
c.4774C>T (p.Pro1592Ser)
c.2704C>T (p.Pro902Ser)
c.8077C>T (p.Pro2693Ser)
c.8023C>T (p.Pro2675Ser)
c.7813C>T (p.Pro2605Ser)
c.7459C>T (p.Pro2487Ser)
c.5356C>T (p.Pro1786Ser)
n.8306C>T
c.7942C>T (p.Pro2648Ser)
c.7138C>T (p.Pro2380Ser)
c.6943C>T (p.Pro2315Ser)
n.8300C>T
n.8246C>T
n.8355C>T
5g.37153982G>CCA359474410CPLANE1n.1130C>G
c.8131C>G (p.Pro2711Ala)
c.7969C>G (p.Pro2657Ala)
c.5143C>G (p.Pro1715Ala)
n.373C>G
n.422C>G
c.1245C>G
c.5167C>G (p.Pro1723Ala)
n.383C>G
c.8128C>G (p.Pro2710Ala)
c.8020C>G (p.Pro2674Ala)
c.8002C>G (p.Pro2668Ala)
c.4774C>G (p.Pro1592Ala)
c.2704C>G (p.Pro902Ala)
c.8077C>G (p.Pro2693Ala)
c.8023C>G (p.Pro2675Ala)
c.7813C>G (p.Pro2605Ala)
c.7459C>G (p.Pro2487Ala)
c.5356C>G (p.Pro1786Ala)
n.8306C>G
c.7942C>G (p.Pro2648Ala)
c.7138C>G (p.Pro2380Ala)
c.6943C>G (p.Pro2315Ala)
n.8300C>G
n.8246C>G
n.8355C>G
5g.37153982G>TCA359474408CPLANE1n.1130C>A
c.8131C>A (p.Pro2711Thr)
c.7969C>A (p.Pro2657Thr)
c.5143C>A (p.Pro1715Thr)
n.373C>A
n.422C>A
c.1245C>A
c.5167C>A (p.Pro1723Thr)
n.383C>A
c.8128C>A (p.Pro2710Thr)
c.8020C>A (p.Pro2674Thr)
c.8002C>A (p.Pro2668Thr)
c.4774C>A (p.Pro1592Thr)
c.2704C>A (p.Pro902Thr)
c.8077C>A (p.Pro2693Thr)
c.8023C>A (p.Pro2675Thr)
c.7813C>A (p.Pro2605Thr)
c.7459C>A (p.Pro2487Thr)
c.5356C>A (p.Pro1786Thr)
n.8306C>A
c.7942C>A (p.Pro2648Thr)
c.7138C>A (p.Pro2380Thr)
c.6943C>A (p.Pro2315Thr)
n.8300C>A
n.8246C>A
n.8355C>A
5g.37153983T>ACA359474411CPLANE1n.1129A>T
c.8130A>T (p.Lys2710Asn)
c.7968A>T (p.Lys2656Asn)
c.5142A>T (p.Lys1714Asn)
n.372A>T
n.421A>T
c.1244A>T
c.5166A>T (p.Lys1722Asn)
n.382A>T
c.8127A>T (p.Lys2709Asn)
c.8019A>T (p.Lys2673Asn)
c.8001A>T (p.Lys2667Asn)
c.4773A>T (p.Lys1591Asn)
c.2703A>T (p.Lys901Asn)
c.8076A>T (p.Lys2692Asn)
c.8022A>T (p.Lys2674Asn)
c.7812A>T (p.Lys2604Asn)
c.7458A>T (p.Lys2486Asn)
c.5355A>T (p.Lys1785Asn)
n.8305A>T
c.7941A>T (p.Lys2647Asn)
c.7137A>T (p.Lys2379Asn)
c.6942A>T (p.Lys2314Asn)
n.8299A>T
n.8245A>T
n.8354A>T
5g.37153983T>CCA444096483CPLANE1n.1129A>G
c.8130A>G (p.Lys2710=)
c.7968A>G (p.Lys2656=)
c.5142A>G (p.Lys1714=)
n.372A>G
n.421A>G
c.1244A>G
c.5166A>G (p.Lys1722=)
n.382A>G
c.8127A>G (p.Lys2709=)
c.8019A>G (p.Lys2673=)
c.8001A>G (p.Lys2667=)
c.4773A>G (p.Lys1591=)
c.2703A>G (p.Lys901=)
c.8076A>G (p.Lys2692=)
c.8022A>G (p.Lys2674=)
c.7812A>G (p.Lys2604=)
c.7458A>G (p.Lys2486=)
c.5355A>G (p.Lys1785=)
n.8305A>G
c.7941A>G (p.Lys2647=)
c.7137A>G (p.Lys2379=)
c.6942A>G (p.Lys2314=)
n.8299A>G
n.8245A>G
n.8354A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37153983T>GCA359474413CPLANE1n.1129A>C
c.8130A>C (p.Lys2710Asn)
c.7968A>C (p.Lys2656Asn)
c.5142A>C (p.Lys1714Asn)
n.372A>C
n.421A>C
c.1244A>C
c.5166A>C (p.Lys1722Asn)
n.382A>C
c.8127A>C (p.Lys2709Asn)
c.8019A>C (p.Lys2673Asn)
c.8001A>C (p.Lys2667Asn)
c.4773A>C (p.Lys1591Asn)
c.2703A>C (p.Lys901Asn)
c.8076A>C (p.Lys2692Asn)
c.8022A>C (p.Lys2674Asn)
c.7812A>C (p.Lys2604Asn)
c.7458A>C (p.Lys2486Asn)
c.5355A>C (p.Lys1785Asn)
n.8305A>C
c.7941A>C (p.Lys2647Asn)
c.7137A>C (p.Lys2379Asn)
c.6942A>C (p.Lys2314Asn)
n.8299A>C
n.8245A>C
n.8354A>C
5g.37153983T=CA1539651481CPLANE1n.1129A=
c.8130A= (p.Lys2710=)
c.7968A= (p.Lys2656=)
c.5142A= (p.Lys1714=)
n.372A=
n.421A=
c.1244A=
c.5166A= (p.Lys1722=)
n.382A=
c.8127A= (p.Lys2709=)
c.8019A= (p.Lys2673=)
c.8001A= (p.Lys2667=)
c.4773A= (p.Lys1591=)
c.2703A= (p.Lys901=)
c.8076A= (p.Lys2692=)
c.8022A= (p.Lys2674=)
c.7812A= (p.Lys2604=)
c.7458A= (p.Lys2486=)
c.5355A= (p.Lys1785=)
n.8305A=
c.7941A= (p.Lys2647=)
c.7137A= (p.Lys2379=)
c.6942A= (p.Lys2314=)
n.8299A=
n.8245A=
n.8354A=
5g.37153983_37153984insAGCA2765914099CPLANE1n.1128_1129insCT
c.8129_8130insCT (p.Lys2710AsnfsTer?)
c.7967_7968insCT (p.Lys2656AsnfsTer?)
c.5141_5142insCT (p.Lys1714AsnfsTer?)
n.371_372insCT
n.420_421insCT
c.1243_1244insCT
c.5165_5166insCT (p.Lys1722AsnfsTer?)
n.381_382insCT
c.8126_8127insCT (p.Lys2709AsnfsTer?)
c.8018_8019insCT (p.Lys2673AsnfsTer?)
c.8000_8001insCT (p.Lys2667AsnfsTer?)
c.4772_4773insCT (p.Lys1591AsnfsTer?)
c.2702_2703insCT (p.Lys901AsnfsTer?)
c.8075_8076insCT (p.Lys2692AsnfsTer?)
c.8021_8022insCT (p.Lys2674AsnfsTer?)
c.7811_7812insCT (p.Lys2604AsnfsTer?)
c.7457_7458insCT (p.Lys2486AsnfsTer?)
c.5354_5355insCT (p.Lys1785AsnfsTer?)
n.8304_8305insCT
c.7940_7941insCT (p.Lys2647AsnfsTer?)
c.7136_7137insCT (p.Lys2379AsnfsTer?)
c.6941_6942insCT (p.Lys2314AsnfsTer?)
n.8298_8299insCT
n.8244_8245insCT
n.8353_8354insCT
5g.37153984T>ACA359474415CPLANE1n.1128A>T
c.8129A>T (p.Lys2710Ile)
c.7967A>T (p.Lys2656Ile)
c.5141A>T (p.Lys1714Ile)
n.371A>T
n.420A>T
c.1243A>T
c.5165A>T (p.Lys1722Ile)
n.381A>T
c.8126A>T (p.Lys2709Ile)
c.8018A>T (p.Lys2673Ile)
c.8000A>T (p.Lys2667Ile)
c.4772A>T (p.Lys1591Ile)
c.2702A>T (p.Lys901Ile)
c.8075A>T (p.Lys2692Ile)
c.8021A>T (p.Lys2674Ile)
c.7811A>T (p.Lys2604Ile)
c.7457A>T (p.Lys2486Ile)
c.5354A>T (p.Lys1785Ile)
n.8304A>T
c.7940A>T (p.Lys2647Ile)
c.7136A>T (p.Lys2379Ile)
c.6941A>T (p.Lys2314Ile)
n.8298A>T
n.8244A>T
n.8353A>T
5g.37153984T>CCA359474416CPLANE1n.1128A>G
c.8129A>G (p.Lys2710Arg)
c.7967A>G (p.Lys2656Arg)
c.5141A>G (p.Lys1714Arg)
n.371A>G
n.420A>G
c.1243A>G
c.5165A>G (p.Lys1722Arg)
n.381A>G
c.8126A>G (p.Lys2709Arg)
c.8018A>G (p.Lys2673Arg)
c.8000A>G (p.Lys2667Arg)
c.4772A>G (p.Lys1591Arg)
c.2702A>G (p.Lys901Arg)
c.8075A>G (p.Lys2692Arg)
c.8021A>G (p.Lys2674Arg)
c.7811A>G (p.Lys2604Arg)
c.7457A>G (p.Lys2486Arg)
c.5354A>G (p.Lys1785Arg)
n.8304A>G
c.7940A>G (p.Lys2647Arg)
c.7136A>G (p.Lys2379Arg)
c.6941A>G (p.Lys2314Arg)
n.8298A>G
n.8244A>G
n.8353A>G
5g.37153984T>GCA359474417CPLANE1n.1128A>C
c.8129A>C (p.Lys2710Thr)
c.7967A>C (p.Lys2656Thr)
c.5141A>C (p.Lys1714Thr)
n.371A>C
n.420A>C
c.1243A>C
c.5165A>C (p.Lys1722Thr)
n.381A>C
c.8126A>C (p.Lys2709Thr)
c.8018A>C (p.Lys2673Thr)
c.8000A>C (p.Lys2667Thr)
c.4772A>C (p.Lys1591Thr)
c.2702A>C (p.Lys901Thr)
c.8075A>C (p.Lys2692Thr)
c.8021A>C (p.Lys2674Thr)
c.7811A>C (p.Lys2604Thr)
c.7457A>C (p.Lys2486Thr)
c.5354A>C (p.Lys1785Thr)
n.8304A>C
c.7940A>C (p.Lys2647Thr)
c.7136A>C (p.Lys2379Thr)
c.6941A>C (p.Lys2314Thr)
n.8298A>C
n.8244A>C
n.8353A>C
5g.37153985T>ACA359474419CPLANE1n.1127A>T
c.8128A>T (p.Lys2710Ter)
c.7966A>T (p.Lys2656Ter)
c.5140A>T (p.Lys1714Ter)
n.370A>T
n.419A>T
c.1242A>T
c.5164A>T (p.Lys1722Ter)
n.380A>T
c.8125A>T (p.Lys2709Ter)
c.8017A>T (p.Lys2673Ter)
c.7999A>T (p.Lys2667Ter)
c.4771A>T (p.Lys1591Ter)
c.2701A>T (p.Lys901Ter)
c.8074A>T (p.Lys2692Ter)
c.8020A>T (p.Lys2674Ter)
c.7810A>T (p.Lys2604Ter)
c.7456A>T (p.Lys2486Ter)
c.5353A>T (p.Lys1785Ter)
n.8303A>T
c.7939A>T (p.Lys2647Ter)
c.7135A>T (p.Lys2379Ter)
c.6940A>T (p.Lys2314Ter)
n.8297A>T
n.8243A>T
n.8352A>T
5g.37153985T>CCA359474421CPLANE1n.1127A>G
c.8128A>G (p.Lys2710Glu)
c.7966A>G (p.Lys2656Glu)
c.5140A>G (p.Lys1714Glu)
n.370A>G
n.419A>G
c.1242A>G
c.5164A>G (p.Lys1722Glu)
n.380A>G
c.8125A>G (p.Lys2709Glu)
c.8017A>G (p.Lys2673Glu)
c.7999A>G (p.Lys2667Glu)
c.4771A>G (p.Lys1591Glu)
c.2701A>G (p.Lys901Glu)
c.8074A>G (p.Lys2692Glu)
c.8020A>G (p.Lys2674Glu)
c.7810A>G (p.Lys2604Glu)
c.7456A>G (p.Lys2486Glu)
c.5353A>G (p.Lys1785Glu)
n.8303A>G
c.7939A>G (p.Lys2647Glu)
c.7135A>G (p.Lys2379Glu)
c.6940A>G (p.Lys2314Glu)
n.8297A>G
n.8243A>G
n.8352A>G
5g.37153985T>GCA359474423CPLANE1n.1127A>C
c.8128A>C (p.Lys2710Gln)
c.7966A>C (p.Lys2656Gln)
c.5140A>C (p.Lys1714Gln)
n.370A>C
n.419A>C
c.1242A>C
c.5164A>C (p.Lys1722Gln)
n.380A>C
c.8125A>C (p.Lys2709Gln)
c.8017A>C (p.Lys2673Gln)
c.7999A>C (p.Lys2667Gln)
c.4771A>C (p.Lys1591Gln)
c.2701A>C (p.Lys901Gln)
c.8074A>C (p.Lys2692Gln)
c.8020A>C (p.Lys2674Gln)
c.7810A>C (p.Lys2604Gln)
c.7456A>C (p.Lys2486Gln)
c.5353A>C (p.Lys1785Gln)
n.8303A>C
c.7939A>C (p.Lys2647Gln)
c.7135A>C (p.Lys2379Gln)
c.6940A>C (p.Lys2314Gln)
n.8297A>C
n.8243A>C
n.8352A>C
5g.37153985_37153986insACCA2765914101CPLANE1n.1126_1127insGT
c.8127_8128insGT (p.Lys2710ValfsTer?)
c.7965_7966insGT (p.Lys2656ValfsTer?)
c.5139_5140insGT (p.Lys1714ValfsTer?)
n.369_370insGT
n.418_419insGT
c.1241_1242insGT
c.5163_5164insGT (p.Lys1722ValfsTer?)
n.379_380insGT
c.8124_8125insGT (p.Lys2709ValfsTer?)
c.8016_8017insGT (p.Lys2673ValfsTer?)
c.7998_7999insGT (p.Lys2667ValfsTer?)
c.4770_4771insGT (p.Lys1591ValfsTer?)
c.2700_2701insGT (p.Lys901ValfsTer?)
c.8073_8074insGT (p.Lys2692ValfsTer?)
c.8019_8020insGT (p.Lys2674ValfsTer?)
c.7809_7810insGT (p.Lys2604ValfsTer?)
c.7455_7456insGT (p.Lys2486ValfsTer?)
c.5352_5353insGT (p.Lys1785ValfsTer?)
n.8302_8303insGT
c.7938_7939insGT (p.Lys2647ValfsTer?)
c.7134_7135insGT (p.Lys2379ValfsTer?)
c.6939_6940insGT (p.Lys2314ValfsTer?)
n.8296_8297insGT
n.8242_8243insGT
n.8351_8352insGT
5g.37153986T>ACA444096484CPLANE1n.1126A>T
c.8127A>T (p.Pro2709=)
c.7965A>T (p.Pro2655=)
c.5139A>T (p.Pro1713=)
n.369A>T
n.418A>T
c.1241A>T
c.5163A>T (p.Pro1721=)
n.379A>T
c.8124A>T (p.Pro2708=)
c.8016A>T (p.Pro2672=)
c.7998A>T (p.Pro2666=)
c.4770A>T (p.Pro1590=)
c.2700A>T (p.Pro900=)
c.8073A>T (p.Pro2691=)
c.8019A>T (p.Pro2673=)
c.7809A>T (p.Pro2603=)
c.7455A>T (p.Pro2485=)
c.5352A>T (p.Pro1784=)
n.8302A>T
c.7938A>T (p.Pro2646=)
c.7134A>T (p.Pro2378=)
c.6939A>T (p.Pro2313=)
n.8296A>T
n.8242A>T
n.8351A>T
5g.37153986T>CCA444096485CPLANE1n.1126A>G
c.8127A>G (p.Pro2709=)
c.7965A>G (p.Pro2655=)
c.5139A>G (p.Pro1713=)
n.369A>G
n.418A>G
c.1241A>G
c.5163A>G (p.Pro1721=)
n.379A>G
c.8124A>G (p.Pro2708=)
c.8016A>G (p.Pro2672=)
c.7998A>G (p.Pro2666=)
c.4770A>G (p.Pro1590=)
c.2700A>G (p.Pro900=)
c.8073A>G (p.Pro2691=)
c.8019A>G (p.Pro2673=)
c.7809A>G (p.Pro2603=)
c.7455A>G (p.Pro2485=)
c.5352A>G (p.Pro1784=)
n.8302A>G
c.7938A>G (p.Pro2646=)
c.7134A>G (p.Pro2378=)
c.6939A>G (p.Pro2313=)
n.8296A>G
n.8242A>G
n.8351A>G
5g.37153986T>GCA444096487CPLANE1n.1126A>C
c.8127A>C (p.Pro2709=)
c.7965A>C (p.Pro2655=)
c.5139A>C (p.Pro1713=)
n.369A>C
n.418A>C
c.1241A>C
c.5163A>C (p.Pro1721=)
n.379A>C
c.8124A>C (p.Pro2708=)
c.8016A>C (p.Pro2672=)
c.7998A>C (p.Pro2666=)
c.4770A>C (p.Pro1590=)
c.2700A>C (p.Pro900=)
c.8073A>C (p.Pro2691=)
c.8019A>C (p.Pro2673=)
c.7809A>C (p.Pro2603=)
c.7455A>C (p.Pro2485=)
c.5352A>C (p.Pro1784=)
n.8302A>C
c.7938A>C (p.Pro2646=)
c.7134A>C (p.Pro2378=)
c.6939A>C (p.Pro2313=)
n.8296A>C
n.8242A>C
n.8351A>C
5g.37153986_37153991delCA2765914100CPLANE1n.1121_1126del
c.8122_8127del (p.Leu2708_Pro2709del)
c.7960_7965del (p.Leu2654_Pro2655del)
c.5134_5139del (p.Leu1712_Pro1713del)
n.364_369del
n.413_418del
c.1236_1241del
c.5158_5163del (p.Leu1720_Pro1721del)
n.374_379del
c.8119_8124del (p.Leu2707_Pro2708del)
c.8011_8016del (p.Leu2671_Pro2672del)
c.7993_7998del (p.Leu2665_Pro2666del)
c.4765_4770del (p.Leu1589_Pro1590del)
c.2695_2700del (p.Leu899_Pro900del)
c.8068_8073del (p.Leu2690_Pro2691del)
c.8014_8019del (p.Leu2672_Pro2673del)
c.7804_7809del (p.Leu2602_Pro2603del)
c.7450_7455del (p.Leu2484_Pro2485del)
c.5347_5352del (p.Leu1783_Pro1784del)
n.8297_8302del
c.7933_7938del (p.Leu2645_Pro2646del)
c.7129_7134del (p.Leu2377_Pro2378del)
c.6934_6939del (p.Leu2312_Pro2313del)
n.8291_8296del
n.8237_8242del
n.8346_8351del
5g.37153987G>ACA359474425CPLANE1n.1125C>T
c.8126C>T (p.Pro2709Leu)
c.7964C>T (p.Pro2655Leu)
c.5138C>T (p.Pro1713Leu)
n.368C>T
n.417C>T
c.1240C>T
c.5162C>T (p.Pro1721Leu)
n.378C>T
c.8123C>T (p.Pro2708Leu)
c.8015C>T (p.Pro2672Leu)
c.7997C>T (p.Pro2666Leu)
c.4769C>T (p.Pro1590Leu)
c.2699C>T (p.Pro900Leu)
c.8072C>T (p.Pro2691Leu)
c.8018C>T (p.Pro2673Leu)
c.7808C>T (p.Pro2603Leu)
c.7454C>T (p.Pro2485Leu)
c.5351C>T (p.Pro1784Leu)
n.8301C>T
c.7937C>T (p.Pro2646Leu)
c.7133C>T (p.Pro2378Leu)
c.6938C>T (p.Pro2313Leu)
n.8295C>T
n.8241C>T
n.8350C>T
5g.37153987G>CCA359474426CPLANE1n.1125C>G
c.8126C>G (p.Pro2709Arg)
c.7964C>G (p.Pro2655Arg)
c.5138C>G (p.Pro1713Arg)
n.368C>G
n.417C>G
c.1240C>G
c.5162C>G (p.Pro1721Arg)
n.378C>G
c.8123C>G (p.Pro2708Arg)
c.8015C>G (p.Pro2672Arg)
c.7997C>G (p.Pro2666Arg)
c.4769C>G (p.Pro1590Arg)
c.2699C>G (p.Pro900Arg)
c.8072C>G (p.Pro2691Arg)
c.8018C>G (p.Pro2673Arg)
c.7808C>G (p.Pro2603Arg)
c.7454C>G (p.Pro2485Arg)
c.5351C>G (p.Pro1784Arg)
n.8301C>G
c.7937C>G (p.Pro2646Arg)
c.7133C>G (p.Pro2378Arg)
c.6938C>G (p.Pro2313Arg)
n.8295C>G
n.8241C>G
n.8350C>G
 gnomAD v4
5g.37153987G>TCA359474427CPLANE1n.1125C>A
c.8126C>A (p.Pro2709Gln)
c.7964C>A (p.Pro2655Gln)
c.5138C>A (p.Pro1713Gln)
n.368C>A
n.417C>A
c.1240C>A
c.5162C>A (p.Pro1721Gln)
n.378C>A
c.8123C>A (p.Pro2708Gln)
c.8015C>A (p.Pro2672Gln)
c.7997C>A (p.Pro2666Gln)
c.4769C>A (p.Pro1590Gln)
c.2699C>A (p.Pro900Gln)
c.8072C>A (p.Pro2691Gln)
c.8018C>A (p.Pro2673Gln)
c.7808C>A (p.Pro2603Gln)
c.7454C>A (p.Pro2485Gln)
c.5351C>A (p.Pro1784Gln)
n.8301C>A
c.7937C>A (p.Pro2646Gln)
c.7133C>A (p.Pro2378Gln)
c.6938C>A (p.Pro2313Gln)
n.8295C>A
n.8241C>A
n.8350C>A
5g.37153987_37153988delCA2765914102CPLANE1n.1124_1125del
c.8125_8126del (p.Pro2709LysfsTer?)
c.7963_7964del (p.Pro2655LysfsTer?)
c.5137_5138del (p.Pro1713LysfsTer?)
n.367_368del
n.416_417del
c.1239_1240del
c.5161_5162del (p.Pro1721LysfsTer?)
n.377_378del
c.8122_8123del (p.Pro2708LysfsTer?)
c.8014_8015del (p.Pro2672LysfsTer?)
c.7996_7997del (p.Pro2666LysfsTer?)
c.4768_4769del (p.Pro1590LysfsTer?)
c.2698_2699del (p.Pro900LysfsTer?)
c.8071_8072del (p.Pro2691LysfsTer?)
c.8017_8018del (p.Pro2673LysfsTer?)
c.7807_7808del (p.Pro2603LysfsTer?)
c.7453_7454del (p.Pro2485LysfsTer?)
c.5350_5351del (p.Pro1784LysfsTer?)
n.8300_8301del
c.7936_7937del (p.Pro2646LysfsTer?)
c.7132_7133del (p.Pro2378LysfsTer?)
c.6937_6938del (p.Pro2313LysfsTer?)
n.8294_8295del
n.8240_8241del
n.8349_8350del
5g.37153988G>ACA359474428CPLANE1n.1124C>T
c.8125C>T (p.Pro2709Ser)
c.7963C>T (p.Pro2655Ser)
c.5137C>T (p.Pro1713Ser)
n.367C>T
n.416C>T
c.1239C>T
c.5161C>T (p.Pro1721Ser)
n.377C>T
c.8122C>T (p.Pro2708Ser)
c.8014C>T (p.Pro2672Ser)
c.7996C>T (p.Pro2666Ser)
c.4768C>T (p.Pro1590Ser)
c.2698C>T (p.Pro900Ser)
c.8071C>T (p.Pro2691Ser)
c.8017C>T (p.Pro2673Ser)
c.7807C>T (p.Pro2603Ser)
c.7453C>T (p.Pro2485Ser)
c.5350C>T (p.Pro1784Ser)
n.8300C>T
c.7936C>T (p.Pro2646Ser)
c.7132C>T (p.Pro2378Ser)
c.6937C>T (p.Pro2313Ser)
n.8294C>T
n.8240C>T
n.8349C>T
5g.37153988G>CCA359474429CPLANE1n.1124C>G
c.8125C>G (p.Pro2709Ala)
c.7963C>G (p.Pro2655Ala)
c.5137C>G (p.Pro1713Ala)
n.367C>G
n.416C>G
c.1239C>G
c.5161C>G (p.Pro1721Ala)
n.377C>G
c.8122C>G (p.Pro2708Ala)
c.8014C>G (p.Pro2672Ala)
c.7996C>G (p.Pro2666Ala)
c.4768C>G (p.Pro1590Ala)
c.2698C>G (p.Pro900Ala)
c.8071C>G (p.Pro2691Ala)
c.8017C>G (p.Pro2673Ala)
c.7807C>G (p.Pro2603Ala)
c.7453C>G (p.Pro2485Ala)
c.5350C>G (p.Pro1784Ala)
n.8300C>G
c.7936C>G (p.Pro2646Ala)
c.7132C>G (p.Pro2378Ala)
c.6937C>G (p.Pro2313Ala)
n.8294C>G
n.8240C>G
n.8349C>G
5g.37153988G>TCA359474430CPLANE1n.1124C>A
c.8125C>A (p.Pro2709Thr)
c.7963C>A (p.Pro2655Thr)
c.5137C>A (p.Pro1713Thr)
n.367C>A
n.416C>A
c.1239C>A
c.5161C>A (p.Pro1721Thr)
n.377C>A
c.8122C>A (p.Pro2708Thr)
c.8014C>A (p.Pro2672Thr)
c.7996C>A (p.Pro2666Thr)
c.4768C>A (p.Pro1590Thr)
c.2698C>A (p.Pro900Thr)
c.8071C>A (p.Pro2691Thr)
c.8017C>A (p.Pro2673Thr)
c.7807C>A (p.Pro2603Thr)
c.7453C>A (p.Pro2485Thr)
c.5350C>A (p.Pro1784Thr)
n.8300C>A
c.7936C>A (p.Pro2646Thr)
c.7132C>A (p.Pro2378Thr)
c.6937C>A (p.Pro2313Thr)
n.8294C>A
n.8240C>A
n.8349C>A
5g.37153989C>ACA3237853CPLANE1n.1123G>T
c.8124G>T (p.Leu2708=)
c.7962G>T (p.Leu2654=)
c.5136G>T (p.Leu1712=)
n.366G>T
n.415G>T
c.1238G>T
c.5160G>T (p.Leu1720=)
n.376G>T
c.8121G>T (p.Leu2707=)
c.8013G>T (p.Leu2671=)
c.7995G>T (p.Leu2665=)
c.4767G>T (p.Leu1589=)
c.2697G>T (p.Leu899=)
c.8070G>T (p.Leu2690=)
c.8016G>T (p.Leu2672=)
c.7806G>T (p.Leu2602=)
c.7452G>T (p.Leu2484=)
c.5349G>T (p.Leu1783=)
n.8299G>T
c.7935G>T (p.Leu2645=)
c.7131G>T (p.Leu2377=)
c.6936G>T (p.Leu2312=)
n.8293G>T
n.8239G>T
n.8348G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.37153989C=CA1539651484CPLANE1n.1123G=
c.8124G= (p.Leu2708=)
c.7962G= (p.Leu2654=)
c.5136G= (p.Leu1712=)
n.366G=
n.415G=
c.1238G=
c.5160G= (p.Leu1720=)
n.376G=
c.8121G= (p.Leu2707=)
c.8013G= (p.Leu2671=)
c.7995G= (p.Leu2665=)
c.4767G= (p.Leu1589=)
c.2697G= (p.Leu899=)
c.8070G= (p.Leu2690=)
c.8016G= (p.Leu2672=)
c.7806G= (p.Leu2602=)
c.7452G= (p.Leu2484=)
c.5349G= (p.Leu1783=)
n.8299G=
c.7935G= (p.Leu2645=)
c.7131G= (p.Leu2377=)
c.6936G= (p.Leu2312=)
n.8293G=
n.8239G=
n.8348G=
5g.37153989C>GCA444096489CPLANE1n.1123G>C
c.8124G>C (p.Leu2708=)
c.7962G>C (p.Leu2654=)
c.5136G>C (p.Leu1712=)
n.366G>C
n.415G>C
c.1238G>C
c.5160G>C (p.Leu1720=)
n.376G>C
c.8121G>C (p.Leu2707=)
c.8013G>C (p.Leu2671=)
c.7995G>C (p.Leu2665=)
c.4767G>C (p.Leu1589=)
c.2697G>C (p.Leu899=)
c.8070G>C (p.Leu2690=)
c.8016G>C (p.Leu2672=)
c.7806G>C (p.Leu2602=)
c.7452G>C (p.Leu2484=)
c.5349G>C (p.Leu1783=)
n.8299G>C
c.7935G>C (p.Leu2645=)
c.7131G>C (p.Leu2377=)
c.6936G>C (p.Leu2312=)
n.8293G>C
n.8239G>C
n.8348G>C
5g.37153989C>TCA117043147CPLANE1n.1123G>A
c.8124G>A (p.Leu2708=)
c.7962G>A (p.Leu2654=)
c.5136G>A (p.Leu1712=)
n.366G>A
n.415G>A
c.1238G>A
c.5160G>A (p.Leu1720=)
n.376G>A
c.8121G>A (p.Leu2707=)
c.8013G>A (p.Leu2671=)
c.7995G>A (p.Leu2665=)
c.4767G>A (p.Leu1589=)
c.2697G>A (p.Leu899=)
c.8070G>A (p.Leu2690=)
c.8016G>A (p.Leu2672=)
c.7806G>A (p.Leu2602=)
c.7452G>A (p.Leu2484=)
c.5349G>A (p.Leu1783=)
n.8299G>A
c.7935G>A (p.Leu2645=)
c.7131G>A (p.Leu2377=)
c.6936G>A (p.Leu2312=)
n.8293G>A
n.8239G>A
n.8348G>A
 dbSNP gnomAD v4
5g.37153990A>CCA359474433CPLANE1n.1122T>G
c.8123T>G (p.Leu2708Arg)
c.7961T>G (p.Leu2654Arg)
c.5135T>G (p.Leu1712Arg)
n.365T>G
n.414T>G
c.1237T>G
c.5159T>G (p.Leu1720Arg)
n.375T>G
c.8120T>G (p.Leu2707Arg)
c.8012T>G (p.Leu2671Arg)
c.7994T>G (p.Leu2665Arg)
c.4766T>G (p.Leu1589Arg)
c.2696T>G (p.Leu899Arg)
c.8069T>G (p.Leu2690Arg)
c.8015T>G (p.Leu2672Arg)
c.7805T>G (p.Leu2602Arg)
c.7451T>G (p.Leu2484Arg)
c.5348T>G (p.Leu1783Arg)
n.8298T>G
c.7934T>G (p.Leu2645Arg)
c.7130T>G (p.Leu2377Arg)
c.6935T>G (p.Leu2312Arg)
n.8292T>G
n.8238T>G
n.8347T>G
5g.37153990A>GCA359474435CPLANE1n.1122T>C
c.8123T>C (p.Leu2708Pro)
c.7961T>C (p.Leu2654Pro)
c.5135T>C (p.Leu1712Pro)
n.365T>C
n.414T>C
c.1237T>C
c.5159T>C (p.Leu1720Pro)
n.375T>C
c.8120T>C (p.Leu2707Pro)
c.8012T>C (p.Leu2671Pro)
c.7994T>C (p.Leu2665Pro)
c.4766T>C (p.Leu1589Pro)
c.2696T>C (p.Leu899Pro)
c.8069T>C (p.Leu2690Pro)
c.8015T>C (p.Leu2672Pro)
c.7805T>C (p.Leu2602Pro)
c.7451T>C (p.Leu2484Pro)
c.5348T>C (p.Leu1783Pro)
n.8298T>C
c.7934T>C (p.Leu2645Pro)
c.7130T>C (p.Leu2377Pro)
c.6935T>C (p.Leu2312Pro)
n.8292T>C
n.8238T>C
n.8347T>C
5g.37153990A>TCA359474436CPLANE1n.1122T>A
c.8123T>A (p.Leu2708Gln)
c.7961T>A (p.Leu2654Gln)
c.5135T>A (p.Leu1712Gln)
n.365T>A
n.414T>A
c.1237T>A
c.5159T>A (p.Leu1720Gln)
n.375T>A
c.8120T>A (p.Leu2707Gln)
c.8012T>A (p.Leu2671Gln)
c.7994T>A (p.Leu2665Gln)
c.4766T>A (p.Leu1589Gln)
c.2696T>A (p.Leu899Gln)
c.8069T>A (p.Leu2690Gln)
c.8015T>A (p.Leu2672Gln)
c.7805T>A (p.Leu2602Gln)
c.7451T>A (p.Leu2484Gln)
c.5348T>A (p.Leu1783Gln)
n.8298T>A
c.7934T>A (p.Leu2645Gln)
c.7130T>A (p.Leu2377Gln)
c.6935T>A (p.Leu2312Gln)
n.8292T>A
n.8238T>A
n.8347T>A
 COSMIC COSMIC
5g.37153991G>ACA3237854CPLANE1n.1121C>T
c.8122C>T (p.Leu2708=)
c.7960C>T (p.Leu2654=)
c.5134C>T (p.Leu1712=)
n.364C>T
n.413C>T
c.1236C>T
c.5158C>T (p.Leu1720=)
n.374C>T
c.8119C>T (p.Leu2707=)
c.8011C>T (p.Leu2671=)
c.7993C>T (p.Leu2665=)
c.4765C>T (p.Leu1589=)
c.2695C>T (p.Leu899=)
c.8068C>T (p.Leu2690=)
c.8014C>T (p.Leu2672=)
c.7804C>T (p.Leu2602=)
c.7450C>T (p.Leu2484=)
c.5347C>T (p.Leu1783=)
n.8297C>T
c.7933C>T (p.Leu2645=)
c.7129C>T (p.Leu2377=)
c.6934C>T (p.Leu2312=)
n.8291C>T
n.8237C>T
n.8346C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37153991G>CCA359474438CPLANE1n.1121C>G
c.8122C>G (p.Leu2708Val)
c.7960C>G (p.Leu2654Val)
c.5134C>G (p.Leu1712Val)
n.364C>G
n.413C>G
c.1236C>G
c.5158C>G (p.Leu1720Val)
n.374C>G
c.8119C>G (p.Leu2707Val)
c.8011C>G (p.Leu2671Val)
c.7993C>G (p.Leu2665Val)
c.4765C>G (p.Leu1589Val)
c.2695C>G (p.Leu899Val)
c.8068C>G (p.Leu2690Val)
c.8014C>G (p.Leu2672Val)
c.7804C>G (p.Leu2602Val)
c.7450C>G (p.Leu2484Val)
c.5347C>G (p.Leu1783Val)
n.8297C>G
c.7933C>G (p.Leu2645Val)
c.7129C>G (p.Leu2377Val)
c.6934C>G (p.Leu2312Val)
n.8291C>G
n.8237C>G
n.8346C>G
5g.37153991G=CA1539651489CPLANE1n.1121C=
c.8122C= (p.Leu2708=)
c.7960C= (p.Leu2654=)
c.5134C= (p.Leu1712=)
n.364C=
n.413C=
c.1236C=
c.5158C= (p.Leu1720=)
n.374C=
c.8119C= (p.Leu2707=)
c.8011C= (p.Leu2671=)
c.7993C= (p.Leu2665=)
c.4765C= (p.Leu1589=)
c.2695C= (p.Leu899=)
c.8068C= (p.Leu2690=)
c.8014C= (p.Leu2672=)
c.7804C= (p.Leu2602=)
c.7450C= (p.Leu2484=)
c.5347C= (p.Leu1783=)
n.8297C=
c.7933C= (p.Leu2645=)
c.7129C= (p.Leu2377=)
c.6934C= (p.Leu2312=)
n.8291C=
n.8237C=
n.8346C=
5g.37153991G>TCA359474442CPLANE1n.1121C>A
c.8122C>A (p.Leu2708Met)
c.7960C>A (p.Leu2654Met)
c.5134C>A (p.Leu1712Met)
n.364C>A
n.413C>A
c.1236C>A
c.5158C>A (p.Leu1720Met)
n.374C>A
c.8119C>A (p.Leu2707Met)
c.8011C>A (p.Leu2671Met)
c.7993C>A (p.Leu2665Met)
c.4765C>A (p.Leu1589Met)
c.2695C>A (p.Leu899Met)
c.8068C>A (p.Leu2690Met)
c.8014C>A (p.Leu2672Met)
c.7804C>A (p.Leu2602Met)
c.7450C>A (p.Leu2484Met)
c.5347C>A (p.Leu1783Met)
n.8297C>A
c.7933C>A (p.Leu2645Met)
c.7129C>A (p.Leu2377Met)
c.6934C>A (p.Leu2312Met)
n.8291C>A
n.8237C>A
n.8346C>A
5g.37153992A>CCA444096494CPLANE1n.1120T>G
c.8121T>G (p.Gly2707=)
c.7959T>G (p.Gly2653=)
c.5133T>G (p.Gly1711=)
n.363T>G
n.412T>G
c.1235T>G
c.5157T>G (p.Gly1719=)
n.373T>G
c.8118T>G (p.Gly2706=)
c.8010T>G (p.Gly2670=)
c.7992T>G (p.Gly2664=)
c.4764T>G (p.Gly1588=)
c.2694T>G (p.Gly898=)
c.8067T>G (p.Gly2689=)
c.8013T>G (p.Gly2671=)
c.7803T>G (p.Gly2601=)
c.7449T>G (p.Gly2483=)
c.5346T>G (p.Gly1782=)
n.8296T>G
c.7932T>G (p.Gly2644=)
c.7128T>G (p.Gly2376=)
c.6933T>G (p.Gly2311=)
n.8290T>G
n.8236T>G
n.8345T>G
5g.37153992A>GCA444096495CPLANE1n.1120T>C
c.8121T>C (p.Gly2707=)
c.7959T>C (p.Gly2653=)
c.5133T>C (p.Gly1711=)
n.363T>C
n.412T>C
c.1235T>C
c.5157T>C (p.Gly1719=)
n.373T>C
c.8118T>C (p.Gly2706=)
c.8010T>C (p.Gly2670=)
c.7992T>C (p.Gly2664=)
c.4764T>C (p.Gly1588=)
c.2694T>C (p.Gly898=)
c.8067T>C (p.Gly2689=)
c.8013T>C (p.Gly2671=)
c.7803T>C (p.Gly2601=)
c.7449T>C (p.Gly2483=)
c.5346T>C (p.Gly1782=)
n.8296T>C
c.7932T>C (p.Gly2644=)
c.7128T>C (p.Gly2376=)
c.6933T>C (p.Gly2311=)
n.8290T>C
n.8236T>C
n.8345T>C
 gnomAD v4
5g.37153992A>TCA444096496CPLANE1n.1120T>A
c.8121T>A (p.Gly2707=)
c.7959T>A (p.Gly2653=)
c.5133T>A (p.Gly1711=)
n.363T>A
n.412T>A
c.1235T>A
c.5157T>A (p.Gly1719=)
n.373T>A
c.8118T>A (p.Gly2706=)
c.8010T>A (p.Gly2670=)
c.7992T>A (p.Gly2664=)
c.4764T>A (p.Gly1588=)
c.2694T>A (p.Gly898=)
c.8067T>A (p.Gly2689=)
c.8013T>A (p.Gly2671=)
c.7803T>A (p.Gly2601=)
c.7449T>A (p.Gly2483=)
c.5346T>A (p.Gly1782=)
n.8296T>A
c.7932T>A (p.Gly2644=)
c.7128T>A (p.Gly2376=)
c.6933T>A (p.Gly2311=)
n.8290T>A
n.8236T>A
n.8345T>A
5g.37153993C>ACA359474444CPLANE1n.1119G>T
c.8120G>T (p.Gly2707Val)
c.7958G>T (p.Gly2653Val)
c.5132G>T (p.Gly1711Val)
n.362G>T
n.411G>T
c.1234G>T
c.5156G>T (p.Gly1719Val)
n.372G>T
c.8117G>T (p.Gly2706Val)
c.8009G>T (p.Gly2670Val)
c.7991G>T (p.Gly2664Val)
c.4763G>T (p.Gly1588Val)
c.2693G>T (p.Gly898Val)
c.8066G>T (p.Gly2689Val)
c.8012G>T (p.Gly2671Val)
c.7802G>T (p.Gly2601Val)
c.7448G>T (p.Gly2483Val)
c.5345G>T (p.Gly1782Val)
n.8295G>T
c.7931G>T (p.Gly2644Val)
c.7127G>T (p.Gly2376Val)
c.6932G>T (p.Gly2311Val)
n.8289G>T
n.8235G>T
n.8344G>T
5g.37153993C=CA1539651494CPLANE1n.1119G=
c.8120G= (p.Gly2707=)
c.7958G= (p.Gly2653=)
c.5132G= (p.Gly1711=)
n.362G=
n.411G=
c.1234G=
c.5156G= (p.Gly1719=)
n.372G=
c.8117G= (p.Gly2706=)
c.8009G= (p.Gly2670=)
c.7991G= (p.Gly2664=)
c.4763G= (p.Gly1588=)
c.2693G= (p.Gly898=)
c.8066G= (p.Gly2689=)
c.8012G= (p.Gly2671=)
c.7802G= (p.Gly2601=)
c.7448G= (p.Gly2483=)
c.5345G= (p.Gly1782=)
n.8295G=
c.7931G= (p.Gly2644=)
c.7127G= (p.Gly2376=)
c.6932G= (p.Gly2311=)
n.8289G=
n.8235G=
n.8344G=
5g.37153993C>GCA359474445CPLANE1n.1119G>C
c.8120G>C (p.Gly2707Ala)
c.7958G>C (p.Gly2653Ala)
c.5132G>C (p.Gly1711Ala)
n.362G>C
n.411G>C
c.1234G>C
c.5156G>C (p.Gly1719Ala)
n.372G>C
c.8117G>C (p.Gly2706Ala)
c.8009G>C (p.Gly2670Ala)
c.7991G>C (p.Gly2664Ala)
c.4763G>C (p.Gly1588Ala)
c.2693G>C (p.Gly898Ala)
c.8066G>C (p.Gly2689Ala)
c.8012G>C (p.Gly2671Ala)
c.7802G>C (p.Gly2601Ala)
c.7448G>C (p.Gly2483Ala)
c.5345G>C (p.Gly1782Ala)
n.8295G>C
c.7931G>C (p.Gly2644Ala)
c.7127G>C (p.Gly2376Ala)
c.6932G>C (p.Gly2311Ala)
n.8289G>C
n.8235G>C
n.8344G>C
 dbSNP gnomAD v4
5g.37153993C>TCA359474447CPLANE1n.1119G>A
c.8120G>A (p.Gly2707Asp)
c.7958G>A (p.Gly2653Asp)
c.5132G>A (p.Gly1711Asp)
n.362G>A
n.411G>A
c.1234G>A
c.5156G>A (p.Gly1719Asp)
n.372G>A
c.8117G>A (p.Gly2706Asp)
c.8009G>A (p.Gly2670Asp)
c.7991G>A (p.Gly2664Asp)
c.4763G>A (p.Gly1588Asp)
c.2693G>A (p.Gly898Asp)
c.8066G>A (p.Gly2689Asp)
c.8012G>A (p.Gly2671Asp)
c.7802G>A (p.Gly2601Asp)
c.7448G>A (p.Gly2483Asp)
c.5345G>A (p.Gly1782Asp)
n.8295G>A
c.7931G>A (p.Gly2644Asp)
c.7127G>A (p.Gly2376Asp)
c.6932G>A (p.Gly2311Asp)
n.8289G>A
n.8235G>A
n.8344G>A
 dbSNP
5g.37153994C>ACA359474449CPLANE1n.1119-1G>T
c.8120-1G>T (n.8120-1G>T)
c.7958-1G>T (n.7958-1G>T)
c.5132-1G>T (n.5132-1G>T)
n.362-1G>T
n.411-1G>T
c.1234-1G>T
c.5156-1G>T (n.5156-1G>T)
n.372-1G>T
c.8117-1G>T (n.8117-1G>T)
c.8009-1G>T (n.8009-1G>T)
c.7991-1G>T (n.7991-1G>T)
c.4763-1G>T (n.4763-1G>T)
c.2693-1G>T (n.2693-1G>T)
c.8066-1G>T (n.8066-1G>T)
c.8012-1G>T (n.8012-1G>T)
c.7802-1G>T (n.7802-1G>T)
c.7448-1G>T (n.7448-1G>T)
c.5345-1G>T (n.5345-1G>T)
n.8295-1G>T
c.7931-1G>T (n.7931-1G>T)
c.7127-1G>T (n.7127-1G>T)
c.6932-1G>T (n.6932-1G>T)
n.8289-1G>T
n.8235-1G>T
n.8344-1G>T
 gnomAD v4
5g.37153994C=CA1539651502CPLANE1n.1119-1G=
c.8120-1G= (n.8120-1G=)
c.7958-1G= (n.7958-1G=)
c.5132-1G= (n.5132-1G=)
n.362-1G=
n.411-1G=
c.1234-1G=
c.5156-1G= (n.5156-1G=)
n.372-1G=
c.8117-1G= (n.8117-1G=)
c.8009-1G= (n.8009-1G=)
c.7991-1G= (n.7991-1G=)
c.4763-1G= (n.4763-1G=)
c.2693-1G= (n.2693-1G=)
c.8066-1G= (n.8066-1G=)
c.8012-1G= (n.8012-1G=)
c.7802-1G= (n.7802-1G=)
c.7448-1G= (n.7448-1G=)
c.5345-1G= (n.5345-1G=)
n.8295-1G=
c.7931-1G= (n.7931-1G=)
c.7127-1G= (n.7127-1G=)
c.6932-1G= (n.6932-1G=)
n.8289-1G=
n.8235-1G=
n.8344-1G=
5g.37153994C>GCA359474450CPLANE1n.1119-1G>C
c.8120-1G>C (n.8120-1G>C)
c.7958-1G>C (n.7958-1G>C)
c.5132-1G>C (n.5132-1G>C)
n.362-1G>C
n.411-1G>C
c.1234-1G>C
c.5156-1G>C (n.5156-1G>C)
n.372-1G>C
c.8117-1G>C (n.8117-1G>C)
c.8009-1G>C (n.8009-1G>C)
c.7991-1G>C (n.7991-1G>C)
c.4763-1G>C (n.4763-1G>C)
c.2693-1G>C (n.2693-1G>C)
c.8066-1G>C (n.8066-1G>C)
c.8012-1G>C (n.8012-1G>C)
c.7802-1G>C (n.7802-1G>C)
c.7448-1G>C (n.7448-1G>C)
c.5345-1G>C (n.5345-1G>C)
n.8295-1G>C
c.7931-1G>C (n.7931-1G>C)
c.7127-1G>C (n.7127-1G>C)
c.6932-1G>C (n.6932-1G>C)
n.8289-1G>C
n.8235-1G>C
n.8344-1G>C
5g.37153994C>TCA359474452CPLANE1n.1119-1G>A
c.8120-1G>A (n.8120-1G>A)
c.7958-1G>A (n.7958-1G>A)
c.5132-1G>A (n.5132-1G>A)
n.362-1G>A
n.411-1G>A
c.1234-1G>A
c.5156-1G>A (n.5156-1G>A)
n.372-1G>A
c.8117-1G>A (n.8117-1G>A)
c.8009-1G>A (n.8009-1G>A)
c.7991-1G>A (n.7991-1G>A)
c.4763-1G>A (n.4763-1G>A)
c.2693-1G>A (n.2693-1G>A)
c.8066-1G>A (n.8066-1G>A)
c.8012-1G>A (n.8012-1G>A)
c.7802-1G>A (n.7802-1G>A)
c.7448-1G>A (n.7448-1G>A)
c.5345-1G>A (n.5345-1G>A)
n.8295-1G>A
c.7931-1G>A (n.7931-1G>A)
c.7127-1G>A (n.7127-1G>A)
c.6932-1G>A (n.6932-1G>A)
n.8289-1G>A
n.8235-1G>A
n.8344-1G>A
 dbSNP
5g.37153995T>ACA359474455CPLANE1n.1119-2A>T
c.8120-2A>T (n.8120-2A>T)
c.7958-2A>T (n.7958-2A>T)
c.5132-2A>T (n.5132-2A>T)
n.362-2A>T
n.411-2A>T
c.1234-2A>T
c.5156-2A>T (n.5156-2A>T)
n.372-2A>T
c.8117-2A>T (n.8117-2A>T)
c.8009-2A>T (n.8009-2A>T)
c.7991-2A>T (n.7991-2A>T)
c.4763-2A>T (n.4763-2A>T)
c.2693-2A>T (n.2693-2A>T)
c.8066-2A>T (n.8066-2A>T)
c.8012-2A>T (n.8012-2A>T)
c.7802-2A>T (n.7802-2A>T)
c.7448-2A>T (n.7448-2A>T)
c.5345-2A>T (n.5345-2A>T)
n.8295-2A>T
c.7931-2A>T (n.7931-2A>T)
c.7127-2A>T (n.7127-2A>T)
c.6932-2A>T (n.6932-2A>T)
n.8289-2A>T
n.8235-2A>T
n.8344-2A>T
5g.37153995T>CCA359474457CPLANE1n.1119-2A>G
c.8120-2A>G (n.8120-2A>G)
c.7958-2A>G (n.7958-2A>G)
c.5132-2A>G (n.5132-2A>G)
n.362-2A>G
n.411-2A>G
c.1234-2A>G
c.5156-2A>G (n.5156-2A>G)
n.372-2A>G
c.8117-2A>G (n.8117-2A>G)
c.8009-2A>G (n.8009-2A>G)
c.7991-2A>G (n.7991-2A>G)
c.4763-2A>G (n.4763-2A>G)
c.2693-2A>G (n.2693-2A>G)
c.8066-2A>G (n.8066-2A>G)
c.8012-2A>G (n.8012-2A>G)
c.7802-2A>G (n.7802-2A>G)
c.7448-2A>G (n.7448-2A>G)
c.5345-2A>G (n.5345-2A>G)
n.8295-2A>G
c.7931-2A>G (n.7931-2A>G)
c.7127-2A>G (n.7127-2A>G)
c.6932-2A>G (n.6932-2A>G)
n.8289-2A>G
n.8235-2A>G
n.8344-2A>G
5g.37153995T>GCA359474453CPLANE1n.1119-2A>C
c.8120-2A>C (n.8120-2A>C)
c.7958-2A>C (n.7958-2A>C)
c.5132-2A>C (n.5132-2A>C)
n.362-2A>C
n.411-2A>C
c.1234-2A>C
c.5156-2A>C (n.5156-2A>C)
n.372-2A>C
c.8117-2A>C (n.8117-2A>C)
c.8009-2A>C (n.8009-2A>C)
c.7991-2A>C (n.7991-2A>C)
c.4763-2A>C (n.4763-2A>C)
c.2693-2A>C (n.2693-2A>C)
c.8066-2A>C (n.8066-2A>C)
c.8012-2A>C (n.8012-2A>C)
c.7802-2A>C (n.7802-2A>C)
c.7448-2A>C (n.7448-2A>C)
c.5345-2A>C (n.5345-2A>C)
n.8295-2A>C
c.7931-2A>C (n.7931-2A>C)
c.7127-2A>C (n.7127-2A>C)
c.6932-2A>C (n.6932-2A>C)
n.8289-2A>C
n.8235-2A>C
n.8344-2A>C
5g.37154001_37154006delCA2673584244CPLANE1n.1119-9_1119-4del
c.8120-9_8120-4del (n.8120-9_8120-4del)
c.7958-9_7958-4del (n.7958-9_7958-4del)
c.5132-9_5132-4del (n.5132-9_5132-4del)
n.362-9_362-4del
n.411-9_411-4del
c.1234-9_1234-4del
c.5156-9_5156-4del (n.5156-9_5156-4del)
n.372-9_372-4del
c.8117-9_8117-4del (n.8117-9_8117-4del)
c.8009-9_8009-4del (n.8009-9_8009-4del)
c.7991-9_7991-4del (n.7991-9_7991-4del)
c.4763-9_4763-4del (n.4763-9_4763-4del)
c.2693-9_2693-4del (n.2693-9_2693-4del)
c.8066-9_8066-4del (n.8066-9_8066-4del)
c.8012-9_8012-4del (n.8012-9_8012-4del)
c.7802-9_7802-4del (n.7802-9_7802-4del)
c.7448-9_7448-4del (n.7448-9_7448-4del)
c.5345-9_5345-4del (n.5345-9_5345-4del)
n.8295-9_8295-4del
c.7931-9_7931-4del (n.7931-9_7931-4del)
c.7127-9_7127-4del (n.7127-9_7127-4del)
c.6932-9_6932-4del (n.6932-9_6932-4del)
n.8289-9_8289-4del
n.8235-9_8235-4del
n.8344-9_8344-4del
 gnomAD v4
5g.37153999T>CCA3237855CPLANE1n.1119-6A>G
c.8120-6A>G (n.8120-6A>G)
c.7958-6A>G (n.7958-6A>G)
c.5132-6A>G (n.5132-6A>G)
n.362-6A>G
n.411-6A>G
c.1234-6A>G
c.5156-6A>G (n.5156-6A>G)
n.372-6A>G
c.8117-6A>G (n.8117-6A>G)
c.8009-6A>G (n.8009-6A>G)
c.7991-6A>G (n.7991-6A>G)
c.4763-6A>G (n.4763-6A>G)
c.2693-6A>G (n.2693-6A>G)
c.8066-6A>G (n.8066-6A>G)
c.8012-6A>G (n.8012-6A>G)
c.7802-6A>G (n.7802-6A>G)
c.7448-6A>G (n.7448-6A>G)
c.5345-6A>G (n.5345-6A>G)
n.8295-6A>G
c.7931-6A>G (n.7931-6A>G)
c.7127-6A>G (n.7127-6A>G)
c.6932-6A>G (n.6932-6A>G)
n.8289-6A>G
n.8235-6A>G
n.8344-6A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37153999T=CA1539651506CPLANE1n.1119-6A=
c.8120-6A= (n.8120-6A=)
c.7958-6A= (n.7958-6A=)
c.5132-6A= (n.5132-6A=)
n.362-6A=
n.411-6A=
c.1234-6A=
c.5156-6A= (n.5156-6A=)
n.372-6A=
c.8117-6A= (n.8117-6A=)
c.8009-6A= (n.8009-6A=)
c.7991-6A= (n.7991-6A=)
c.4763-6A= (n.4763-6A=)
c.2693-6A= (n.2693-6A=)
c.8066-6A= (n.8066-6A=)
c.8012-6A= (n.8012-6A=)
c.7802-6A= (n.7802-6A=)
c.7448-6A= (n.7448-6A=)
c.5345-6A= (n.5345-6A=)
n.8295-6A=
c.7931-6A= (n.7931-6A=)
c.7127-6A= (n.7127-6A=)
c.6932-6A= (n.6932-6A=)
n.8289-6A=
n.8235-6A=
n.8344-6A=
5g.37154001_37154003delCA2765914103CPLANE1n.1119-8_1119-6del
c.8120-8_8120-6del (n.8120-8_8120-6del)
c.7958-8_7958-6del (n.7958-8_7958-6del)
c.5132-8_5132-6del (n.5132-8_5132-6del)
n.362-8_362-6del
n.411-8_411-6del
c.1234-8_1234-6del
c.5156-8_5156-6del (n.5156-8_5156-6del)
n.372-8_372-6del
c.8117-8_8117-6del (n.8117-8_8117-6del)
c.8009-8_8009-6del (n.8009-8_8009-6del)
c.7991-8_7991-6del (n.7991-8_7991-6del)
c.4763-8_4763-6del (n.4763-8_4763-6del)
c.2693-8_2693-6del (n.2693-8_2693-6del)
c.8066-8_8066-6del (n.8066-8_8066-6del)
c.8012-8_8012-6del (n.8012-8_8012-6del)
c.7802-8_7802-6del (n.7802-8_7802-6del)
c.7448-8_7448-6del (n.7448-8_7448-6del)
c.5345-8_5345-6del (n.5345-8_5345-6del)
n.8295-8_8295-6del
c.7931-8_7931-6del (n.7931-8_7931-6del)
c.7127-8_7127-6del (n.7127-8_7127-6del)
c.6932-8_6932-6del (n.6932-8_6932-6del)
n.8289-8_8289-6del
n.8235-8_8235-6del
n.8344-8_8344-6del
5g.37154000A>GCA2673584245CPLANE1n.1119-7T>C
c.8120-7T>C (n.8120-7T>C)
c.7958-7T>C (n.7958-7T>C)
c.5132-7T>C (n.5132-7T>C)
n.362-7T>C
n.411-7T>C
c.1234-7T>C
c.5156-7T>C (n.5156-7T>C)
n.372-7T>C
c.8117-7T>C (n.8117-7T>C)
c.8009-7T>C (n.8009-7T>C)
c.7991-7T>C (n.7991-7T>C)
c.4763-7T>C (n.4763-7T>C)
c.2693-7T>C (n.2693-7T>C)
c.8066-7T>C (n.8066-7T>C)
c.8012-7T>C (n.8012-7T>C)
c.7802-7T>C (n.7802-7T>C)
c.7448-7T>C (n.7448-7T>C)
c.5345-7T>C (n.5345-7T>C)
n.8295-7T>C
c.7931-7T>C (n.7931-7T>C)
c.7127-7T>C (n.7127-7T>C)
c.6932-7T>C (n.6932-7T>C)
n.8289-7T>C
n.8235-7T>C
n.8344-7T>C
 gnomAD v4
5g.37154004A=CA1539651513CPLANE1n.1119-11T=
c.8120-11T= (n.8120-11T=)
c.7958-11T= (n.7958-11T=)
c.5132-11T= (n.5132-11T=)
n.362-11T=
n.411-11T=
c.1234-11T=
c.5156-11T= (n.5156-11T=)
n.372-11T=
c.8117-11T= (n.8117-11T=)
c.8009-11T= (n.8009-11T=)
c.7991-11T= (n.7991-11T=)
c.4763-11T= (n.4763-11T=)
c.2693-11T= (n.2693-11T=)
c.8066-11T= (n.8066-11T=)
c.8012-11T= (n.8012-11T=)
c.7802-11T= (n.7802-11T=)
c.7448-11T= (n.7448-11T=)
c.5345-11T= (n.5345-11T=)
n.8295-11T=
c.7931-11T= (n.7931-11T=)
c.7127-11T= (n.7127-11T=)
c.6932-11T= (n.6932-11T=)
n.8289-11T=
n.8235-11T=
n.8344-11T=
5g.37154004A>GCA559295458CPLANE1n.1119-11T>C
c.8120-11T>C (n.8120-11T>C)
c.7958-11T>C (n.7958-11T>C)
c.5132-11T>C (n.5132-11T>C)
n.362-11T>C
n.411-11T>C
c.1234-11T>C
c.5156-11T>C (n.5156-11T>C)
n.372-11T>C
c.8117-11T>C (n.8117-11T>C)
c.8009-11T>C (n.8009-11T>C)
c.7991-11T>C (n.7991-11T>C)
c.4763-11T>C (n.4763-11T>C)
c.2693-11T>C (n.2693-11T>C)
c.8066-11T>C (n.8066-11T>C)
c.8012-11T>C (n.8012-11T>C)
c.7802-11T>C (n.7802-11T>C)
c.7448-11T>C (n.7448-11T>C)
c.5345-11T>C (n.5345-11T>C)
n.8295-11T>C
c.7931-11T>C (n.7931-11T>C)
c.7127-11T>C (n.7127-11T>C)
c.6932-11T>C (n.6932-11T>C)
n.8289-11T>C
n.8235-11T>C
n.8344-11T>C
 dbSNP gnomAD v2 gnomAD v4
5g.37154013_37154169delCA2765914104CPLANE1n.1119-167_1119-11del
c.8120-167_8120-11del (n.8120-167_8120-11del)
c.7958-167_7958-11del (n.7958-167_7958-11del)
c.5132-167_5132-11del (n.5132-167_5132-11del)
n.362-167_362-11del
n.411-167_411-11del
c.1234-167_1234-11del
c.5156-167_5156-11del (n.5156-167_5156-11del)
n.372-167_372-11del
c.8117-167_8117-11del (n.8117-167_8117-11del)
c.8009-167_8009-11del (n.8009-167_8009-11del)
c.7991-167_7991-11del (n.7991-167_7991-11del)
c.4763-167_4763-11del (n.4763-167_4763-11del)
c.2693-167_2693-11del (n.2693-167_2693-11del)
c.8066-167_8066-11del (n.8066-167_8066-11del)
c.8012-167_8012-11del (n.8012-167_8012-11del)
c.7802-167_7802-11del (n.7802-167_7802-11del)
c.7448-167_7448-11del (n.7448-167_7448-11del)
c.5345-167_5345-11del (n.5345-167_5345-11del)
n.8295-167_8295-11del
c.7931-167_7931-11del (n.7931-167_7931-11del)
c.7127-167_7127-11del (n.7127-167_7127-11del)
c.6932-167_6932-11del (n.6932-167_6932-11del)
n.8289-167_8289-11del
n.8235-167_8235-11del
n.8344-167_8344-11del

Number of alleles fetched