Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37125335_37125337delCA2765912303CPLANE1n.1866_1868del
c.8867_8869del (p.Arg2956del)
n.728_730del
c.8705_8707del (p.Arg2902del)
c.5879_5881del (n.5879_5881del)
n.4048_4050del
n.342-3551_342-3549del
c.5903_5905del (p.Arg1968del)
c.8864_8866del (p.Arg2955del)
c.8756_8758del (p.Arg2919del)
c.8738_8740del (p.Arg2913del)
c.5510_5512del (p.Arg1837del)
c.3440_3442del (p.Arg1147del)
c.8813_8815del (p.Arg2938del)
c.8759_8761del (p.Arg2920del)
c.8549_8551del (p.Arg2850del)
c.8195_8197del (p.Arg2732del)
c.6092_6094del (p.Arg2031del)
n.9042_9044del
c.8678_8680del (p.Arg2893del)
c.7874_7876del (p.Arg2625del)
c.7679_7681del (p.Arg2560del)
n.9091_9093del
5g.37125334T>ACA359499203CPLANE1n.1867A>T
c.8868A>T (p.Arg2956Ser)
n.729A>T
c.8706A>T (p.Arg2902Ser)
c.5880A>T (n.5880A>T)
n.4049A>T
n.342-3550A>T
c.5904A>T (p.Arg1968Ser)
c.8865A>T (p.Arg2955Ser)
c.8757A>T (p.Arg2919Ser)
c.8739A>T (p.Arg2913Ser)
c.5511A>T (p.Arg1837Ser)
c.3441A>T (p.Arg1147Ser)
c.8814A>T (p.Arg2938Ser)
c.8760A>T (p.Arg2920Ser)
c.8550A>T (p.Arg2850Ser)
c.8196A>T (p.Arg2732Ser)
c.6093A>T (p.Arg2031Ser)
n.9043A>T
c.8679A>T (p.Arg2893Ser)
c.7875A>T (p.Arg2625Ser)
c.7680A>T (p.Arg2560Ser)
n.9092A>T
 dbSNP gnomAD v2 gnomAD v4
5g.37125334T>CCA443922031CPLANE1n.1867A>G
c.8868A>G (p.Arg2956=)
n.729A>G
c.8706A>G (p.Arg2902=)
c.5880A>G (n.5880A>G)
n.4049A>G
n.342-3550A>G
c.5904A>G (p.Arg1968=)
c.8865A>G (p.Arg2955=)
c.8757A>G (p.Arg2919=)
c.8739A>G (p.Arg2913=)
c.5511A>G (p.Arg1837=)
c.3441A>G (p.Arg1147=)
c.8814A>G (p.Arg2938=)
c.8760A>G (p.Arg2920=)
c.8550A>G (p.Arg2850=)
c.8196A>G (p.Arg2732=)
c.6093A>G (p.Arg2031=)
n.9043A>G
c.8679A>G (p.Arg2893=)
c.7875A>G (p.Arg2625=)
c.7680A>G (p.Arg2560=)
n.9092A>G
5g.37125334T>GCA359499213CPLANE1n.1867A>C
c.8868A>C (p.Arg2956Ser)
n.729A>C
c.8706A>C (p.Arg2902Ser)
c.5880A>C (n.5880A>C)
n.4049A>C
n.342-3550A>C
c.5904A>C (p.Arg1968Ser)
c.8865A>C (p.Arg2955Ser)
c.8757A>C (p.Arg2919Ser)
c.8739A>C (p.Arg2913Ser)
c.5511A>C (p.Arg1837Ser)
c.3441A>C (p.Arg1147Ser)
c.8814A>C (p.Arg2938Ser)
c.8760A>C (p.Arg2920Ser)
c.8550A>C (p.Arg2850Ser)
c.8196A>C (p.Arg2732Ser)
c.6093A>C (p.Arg2031Ser)
n.9043A>C
c.8679A>C (p.Arg2893Ser)
c.7875A>C (p.Arg2625Ser)
c.7680A>C (p.Arg2560Ser)
n.9092A>C
5g.37125334T=CA1539667660CPLANE1n.1867A=
c.8868A= (p.Arg2956=)
n.729A=
c.8706A= (p.Arg2902=)
c.5880A= (n.5880A=)
n.4049A=
n.342-3550A=
c.5904A= (p.Arg1968=)
c.8865A= (p.Arg2955=)
c.8757A= (p.Arg2919=)
c.8739A= (p.Arg2913=)
c.5511A= (p.Arg1837=)
c.3441A= (p.Arg1147=)
c.8814A= (p.Arg2938=)
c.8760A= (p.Arg2920=)
c.8550A= (p.Arg2850=)
c.8196A= (p.Arg2732=)
c.6093A= (p.Arg2031=)
n.9043A=
c.8679A= (p.Arg2893=)
c.7875A= (p.Arg2625=)
c.7680A= (p.Arg2560=)
n.9092A=
5g.37125335C>ACA359499219CPLANE1n.1866G>T
c.8867G>T (p.Arg2956Ile)
n.728G>T
c.8705G>T (p.Arg2902Ile)
c.5879G>T (n.5879G>T)
n.4048G>T
n.342-3551G>T
c.5903G>T (p.Arg1968Ile)
c.8864G>T (p.Arg2955Ile)
c.8756G>T (p.Arg2919Ile)
c.8738G>T (p.Arg2913Ile)
c.5510G>T (p.Arg1837Ile)
c.3440G>T (p.Arg1147Ile)
c.8813G>T (p.Arg2938Ile)
c.8759G>T (p.Arg2920Ile)
c.8549G>T (p.Arg2850Ile)
c.8195G>T (p.Arg2732Ile)
c.6092G>T (p.Arg2031Ile)
n.9042G>T
c.8678G>T (p.Arg2893Ile)
c.7874G>T (p.Arg2625Ile)
c.7679G>T (p.Arg2560Ile)
n.9091G>T
5g.37125335C>GCA359499220CPLANE1n.1866G>C
c.8867G>C (p.Arg2956Thr)
n.728G>C
c.8705G>C (p.Arg2902Thr)
c.5879G>C (n.5879G>C)
n.4048G>C
n.342-3551G>C
c.5903G>C (p.Arg1968Thr)
c.8864G>C (p.Arg2955Thr)
c.8756G>C (p.Arg2919Thr)
c.8738G>C (p.Arg2913Thr)
c.5510G>C (p.Arg1837Thr)
c.3440G>C (p.Arg1147Thr)
c.8813G>C (p.Arg2938Thr)
c.8759G>C (p.Arg2920Thr)
c.8549G>C (p.Arg2850Thr)
c.8195G>C (p.Arg2732Thr)
c.6092G>C (p.Arg2031Thr)
n.9042G>C
c.8678G>C (p.Arg2893Thr)
c.7874G>C (p.Arg2625Thr)
c.7679G>C (p.Arg2560Thr)
n.9091G>C
5g.37125335C>TCA359499223CPLANE1n.1866G>A
c.8867G>A (p.Arg2956Lys)
n.728G>A
c.8705G>A (p.Arg2902Lys)
c.5879G>A (n.5879G>A)
n.4048G>A
n.342-3551G>A
c.5903G>A (p.Arg1968Lys)
c.8864G>A (p.Arg2955Lys)
c.8756G>A (p.Arg2919Lys)
c.8738G>A (p.Arg2913Lys)
c.5510G>A (p.Arg1837Lys)
c.3440G>A (p.Arg1147Lys)
c.8813G>A (p.Arg2938Lys)
c.8759G>A (p.Arg2920Lys)
c.8549G>A (p.Arg2850Lys)
c.8195G>A (p.Arg2732Lys)
c.6092G>A (p.Arg2031Lys)
n.9042G>A
c.8678G>A (p.Arg2893Lys)
c.7874G>A (p.Arg2625Lys)
c.7679G>A (p.Arg2560Lys)
n.9091G>A
5g.37125336T>ACA359499225CPLANE1n.1865A>T
c.8866A>T (p.Arg2956Ter)
n.727A>T
c.8704A>T (p.Arg2902Ter)
c.5878A>T (n.5878A>T)
n.4047A>T
n.342-3552A>T
c.5902A>T (p.Arg1968Ter)
c.8863A>T (p.Arg2955Ter)
c.8755A>T (p.Arg2919Ter)
c.8737A>T (p.Arg2913Ter)
c.5509A>T (p.Arg1837Ter)
c.3439A>T (p.Arg1147Ter)
c.8812A>T (p.Arg2938Ter)
c.8758A>T (p.Arg2920Ter)
c.8548A>T (p.Arg2850Ter)
c.8194A>T (p.Arg2732Ter)
c.6091A>T (p.Arg2031Ter)
n.9041A>T
c.8677A>T (p.Arg2893Ter)
c.7873A>T (p.Arg2625Ter)
c.7678A>T (p.Arg2560Ter)
n.9035A>T
n.9090A>T
5g.37125336T>CCA359499228CPLANE1n.1865A>G
c.8866A>G (p.Arg2956Gly)
n.727A>G
c.8704A>G (p.Arg2902Gly)
c.5878A>G (n.5878A>G)
n.4047A>G
n.342-3552A>G
c.5902A>G (p.Arg1968Gly)
c.8863A>G (p.Arg2955Gly)
c.8755A>G (p.Arg2919Gly)
c.8737A>G (p.Arg2913Gly)
c.5509A>G (p.Arg1837Gly)
c.3439A>G (p.Arg1147Gly)
c.8812A>G (p.Arg2938Gly)
c.8758A>G (p.Arg2920Gly)
c.8548A>G (p.Arg2850Gly)
c.8194A>G (p.Arg2732Gly)
c.6091A>G (p.Arg2031Gly)
n.9041A>G
c.8677A>G (p.Arg2893Gly)
c.7873A>G (p.Arg2625Gly)
c.7678A>G (p.Arg2560Gly)
n.9035A>G
n.9090A>G
 gnomAD v4
5g.37125336T>GCA443922035CPLANE1n.1865A>C
c.8866A>C (p.Arg2956=)
n.727A>C
c.8704A>C (p.Arg2902=)
c.5878A>C (n.5878A>C)
n.4047A>C
n.342-3552A>C
c.5902A>C (p.Arg1968=)
c.8863A>C (p.Arg2955=)
c.8755A>C (p.Arg2919=)
c.8737A>C (p.Arg2913=)
c.5509A>C (p.Arg1837=)
c.3439A>C (p.Arg1147=)
c.8812A>C (p.Arg2938=)
c.8758A>C (p.Arg2920=)
c.8548A>C (p.Arg2850=)
c.8194A>C (p.Arg2732=)
c.6091A>C (p.Arg2031=)
n.9041A>C
c.8677A>C (p.Arg2893=)
c.7873A>C (p.Arg2625=)
c.7678A>C (p.Arg2560=)
n.9035A>C
n.9090A>C
5g.37125337T>ACA359499229CPLANE1n.1864A>T
c.8865A>T (p.Lys2955Asn)
n.726A>T
c.8703A>T (p.Lys2901Asn)
c.5877A>T (n.5877A>T)
n.4046A>T
n.342-3553A>T
c.5901A>T (p.Lys1967Asn)
c.8862A>T (p.Lys2954Asn)
c.8754A>T (p.Lys2918Asn)
c.8736A>T (p.Lys2912Asn)
c.5508A>T (p.Lys1836Asn)
c.3438A>T (p.Lys1146Asn)
c.8811A>T (p.Lys2937Asn)
c.8757A>T (p.Lys2919Asn)
c.8547A>T (p.Lys2849Asn)
c.8193A>T (p.Lys2731Asn)
c.6090A>T (p.Lys2030Asn)
n.9040A>T
c.8676A>T (p.Lys2892Asn)
c.7872A>T (p.Lys2624Asn)
c.7677A>T (p.Lys2559Asn)
n.9034A>T
n.9089A>T
5g.37125337T>CCA443922037CPLANE1n.1864A>G
c.8865A>G (p.Lys2955=)
n.726A>G
c.8703A>G (p.Lys2901=)
c.5877A>G (n.5877A>G)
n.4046A>G
n.342-3553A>G
c.5901A>G (p.Lys1967=)
c.8862A>G (p.Lys2954=)
c.8754A>G (p.Lys2918=)
c.8736A>G (p.Lys2912=)
c.5508A>G (p.Lys1836=)
c.3438A>G (p.Lys1146=)
c.8811A>G (p.Lys2937=)
c.8757A>G (p.Lys2919=)
c.8547A>G (p.Lys2849=)
c.8193A>G (p.Lys2731=)
c.6090A>G (p.Lys2030=)
n.9040A>G
c.8676A>G (p.Lys2892=)
c.7872A>G (p.Lys2624=)
c.7677A>G (p.Lys2559=)
n.9034A>G
n.9089A>G
5g.37125337T>GCA359499231CPLANE1n.1864A>C
c.8865A>C (p.Lys2955Asn)
n.726A>C
c.8703A>C (p.Lys2901Asn)
c.5877A>C (n.5877A>C)
n.4046A>C
n.342-3553A>C
c.5901A>C (p.Lys1967Asn)
c.8862A>C (p.Lys2954Asn)
c.8754A>C (p.Lys2918Asn)
c.8736A>C (p.Lys2912Asn)
c.5508A>C (p.Lys1836Asn)
c.3438A>C (p.Lys1146Asn)
c.8811A>C (p.Lys2937Asn)
c.8757A>C (p.Lys2919Asn)
c.8547A>C (p.Lys2849Asn)
c.8193A>C (p.Lys2731Asn)
c.6090A>C (p.Lys2030Asn)
n.9040A>C
c.8676A>C (p.Lys2892Asn)
c.7872A>C (p.Lys2624Asn)
c.7677A>C (p.Lys2559Asn)
n.9034A>C
n.9089A>C
5g.37125338T>ACA359499237CPLANE1n.1863A>T
c.8864A>T (p.Lys2955Ile)
n.725A>T
c.8702A>T (p.Lys2901Ile)
c.5876A>T (n.5876A>T)
n.4045A>T
n.342-3554A>T
c.5900A>T (p.Lys1967Ile)
c.8861A>T (p.Lys2954Ile)
c.8753A>T (p.Lys2918Ile)
c.8735A>T (p.Lys2912Ile)
c.5507A>T (p.Lys1836Ile)
c.3437A>T (p.Lys1146Ile)
c.8810A>T (p.Lys2937Ile)
c.8756A>T (p.Lys2919Ile)
c.8546A>T (p.Lys2849Ile)
c.8192A>T (p.Lys2731Ile)
c.6089A>T (p.Lys2030Ile)
n.9039A>T
c.8675A>T (p.Lys2892Ile)
c.7871A>T (p.Lys2624Ile)
c.7676A>T (p.Lys2559Ile)
n.9033A>T
n.9088A>T
5g.37125338T>CCA359499239CPLANE1n.1863A>G
c.8864A>G (p.Lys2955Arg)
n.725A>G
c.8702A>G (p.Lys2901Arg)
c.5876A>G (n.5876A>G)
n.4045A>G
n.342-3554A>G
c.5900A>G (p.Lys1967Arg)
c.8861A>G (p.Lys2954Arg)
c.8753A>G (p.Lys2918Arg)
c.8735A>G (p.Lys2912Arg)
c.5507A>G (p.Lys1836Arg)
c.3437A>G (p.Lys1146Arg)
c.8810A>G (p.Lys2937Arg)
c.8756A>G (p.Lys2919Arg)
c.8546A>G (p.Lys2849Arg)
c.8192A>G (p.Lys2731Arg)
c.6089A>G (p.Lys2030Arg)
n.9039A>G
c.8675A>G (p.Lys2892Arg)
c.7871A>G (p.Lys2624Arg)
c.7676A>G (p.Lys2559Arg)
n.9033A>G
n.9088A>G
5g.37125338T>GCA359499245CPLANE1n.1863A>C
c.8864A>C (p.Lys2955Thr)
n.725A>C
c.8702A>C (p.Lys2901Thr)
c.5876A>C (n.5876A>C)
n.4045A>C
n.342-3554A>C
c.5900A>C (p.Lys1967Thr)
c.8861A>C (p.Lys2954Thr)
c.8753A>C (p.Lys2918Thr)
c.8735A>C (p.Lys2912Thr)
c.5507A>C (p.Lys1836Thr)
c.3437A>C (p.Lys1146Thr)
c.8810A>C (p.Lys2937Thr)
c.8756A>C (p.Lys2919Thr)
c.8546A>C (p.Lys2849Thr)
c.8192A>C (p.Lys2731Thr)
c.6089A>C (p.Lys2030Thr)
n.9039A>C
c.8675A>C (p.Lys2892Thr)
c.7871A>C (p.Lys2624Thr)
c.7676A>C (p.Lys2559Thr)
n.9033A>C
n.9088A>C
5g.37125339T>ACA359499246CPLANE1n.1862A>T
c.8863A>T (p.Lys2955Ter)
n.724A>T
c.8701A>T (p.Lys2901Ter)
c.5875A>T (n.5875A>T)
n.4044A>T
n.342-3555A>T
c.5899A>T (p.Lys1967Ter)
c.8860A>T (p.Lys2954Ter)
c.8752A>T (p.Lys2918Ter)
c.8734A>T (p.Lys2912Ter)
c.5506A>T (p.Lys1836Ter)
c.3436A>T (p.Lys1146Ter)
c.8809A>T (p.Lys2937Ter)
c.8755A>T (p.Lys2919Ter)
c.8545A>T (p.Lys2849Ter)
c.8191A>T (p.Lys2731Ter)
c.6088A>T (p.Lys2030Ter)
n.9038A>T
c.8674A>T (p.Lys2892Ter)
c.7870A>T (p.Lys2624Ter)
c.7675A>T (p.Lys2559Ter)
n.9032A>T
n.9087A>T
5g.37125339T>CCA359499247CPLANE1n.1862A>G
c.8863A>G (p.Lys2955Glu)
n.724A>G
c.8701A>G (p.Lys2901Glu)
c.5875A>G (n.5875A>G)
n.4044A>G
n.342-3555A>G
c.5899A>G (p.Lys1967Glu)
c.8860A>G (p.Lys2954Glu)
c.8752A>G (p.Lys2918Glu)
c.8734A>G (p.Lys2912Glu)
c.5506A>G (p.Lys1836Glu)
c.3436A>G (p.Lys1146Glu)
c.8809A>G (p.Lys2937Glu)
c.8755A>G (p.Lys2919Glu)
c.8545A>G (p.Lys2849Glu)
c.8191A>G (p.Lys2731Glu)
c.6088A>G (p.Lys2030Glu)
n.9038A>G
c.8674A>G (p.Lys2892Glu)
c.7870A>G (p.Lys2624Glu)
c.7675A>G (p.Lys2559Glu)
n.9032A>G
n.9087A>G
5g.37125339T>GCA359499248CPLANE1n.1862A>C
c.8863A>C (p.Lys2955Gln)
n.724A>C
c.8701A>C (p.Lys2901Gln)
c.5875A>C (n.5875A>C)
n.4044A>C
n.342-3555A>C
c.5899A>C (p.Lys1967Gln)
c.8860A>C (p.Lys2954Gln)
c.8752A>C (p.Lys2918Gln)
c.8734A>C (p.Lys2912Gln)
c.5506A>C (p.Lys1836Gln)
c.3436A>C (p.Lys1146Gln)
c.8809A>C (p.Lys2937Gln)
c.8755A>C (p.Lys2919Gln)
c.8545A>C (p.Lys2849Gln)
c.8191A>C (p.Lys2731Gln)
c.6088A>C (p.Lys2030Gln)
n.9038A>C
c.8674A>C (p.Lys2892Gln)
c.7870A>C (p.Lys2624Gln)
c.7675A>C (p.Lys2559Gln)
n.9032A>C
n.9087A>C
5g.37125340C>ACA359499249CPLANE1n.1861G>T
c.8862G>T (p.Met2954Ile)
n.723G>T
c.8700G>T (p.Met2900Ile)
c.5874G>T (n.5874G>T)
n.4043G>T
n.342-3556G>T
c.5898G>T (p.Met1966Ile)
c.8859G>T (p.Met2953Ile)
c.8751G>T (p.Met2917Ile)
c.8733G>T (p.Met2911Ile)
c.5505G>T (p.Met1835Ile)
c.3435G>T (p.Met1145Ile)
c.8808G>T (p.Met2936Ile)
c.8754G>T (p.Met2918Ile)
c.8544G>T (p.Met2848Ile)
c.8190G>T (p.Met2730Ile)
c.6087G>T (p.Met2029Ile)
n.9037G>T
c.8673G>T (p.Met2891Ile)
c.7869G>T (p.Met2623Ile)
c.7674G>T (p.Met2558Ile)
n.9031G>T
n.9086G>T
5g.37125340C>GCA359499251CPLANE1n.1861G>C
c.8862G>C (p.Met2954Ile)
n.723G>C
c.8700G>C (p.Met2900Ile)
c.5874G>C (n.5874G>C)
n.4043G>C
n.342-3556G>C
c.5898G>C (p.Met1966Ile)
c.8859G>C (p.Met2953Ile)
c.8751G>C (p.Met2917Ile)
c.8733G>C (p.Met2911Ile)
c.5505G>C (p.Met1835Ile)
c.3435G>C (p.Met1145Ile)
c.8808G>C (p.Met2936Ile)
c.8754G>C (p.Met2918Ile)
c.8544G>C (p.Met2848Ile)
c.8190G>C (p.Met2730Ile)
c.6087G>C (p.Met2029Ile)
n.9037G>C
c.8673G>C (p.Met2891Ile)
c.7869G>C (p.Met2623Ile)
c.7674G>C (p.Met2558Ile)
n.9031G>C
n.9086G>C
5g.37125340C>TCA359499254CPLANE1n.1861G>A
c.8862G>A (p.Met2954Ile)
n.723G>A
c.8700G>A (p.Met2900Ile)
c.5874G>A (n.5874G>A)
n.4043G>A
n.342-3556G>A
c.5898G>A (p.Met1966Ile)
c.8859G>A (p.Met2953Ile)
c.8751G>A (p.Met2917Ile)
c.8733G>A (p.Met2911Ile)
c.5505G>A (p.Met1835Ile)
c.3435G>A (p.Met1145Ile)
c.8808G>A (p.Met2936Ile)
c.8754G>A (p.Met2918Ile)
c.8544G>A (p.Met2848Ile)
c.8190G>A (p.Met2730Ile)
c.6087G>A (p.Met2029Ile)
n.9037G>A
c.8673G>A (p.Met2891Ile)
c.7869G>A (p.Met2623Ile)
c.7674G>A (p.Met2558Ile)
n.9031G>A
n.9086G>A
 gnomAD v4 COSMIC COSMIC
5g.37125341A=CA1539667664CPLANE1n.1860T=
c.8861T= (p.Met2954=)
n.722T=
c.8699T= (p.Met2900=)
c.5873T= (n.5873T=)
n.4042T=
n.342-3557T=
c.5897T= (p.Met1966=)
c.8858T= (p.Met2953=)
c.8750T= (p.Met2917=)
c.8732T= (p.Met2911=)
c.5504T= (p.Met1835=)
c.3434T= (p.Met1145=)
c.8807T= (p.Met2936=)
c.8753T= (p.Met2918=)
c.8543T= (p.Met2848=)
c.8189T= (p.Met2730=)
c.6086T= (p.Met2029=)
n.9036T=
c.8672T= (p.Met2891=)
c.7868T= (p.Met2623=)
c.7673T= (p.Met2558=)
n.9030T=
n.9085T=
5g.37125341A>CCA359499277CPLANE1n.1860T>G
c.8861T>G (p.Met2954Arg)
n.722T>G
c.8699T>G (p.Met2900Arg)
c.5873T>G (n.5873T>G)
n.4042T>G
n.342-3557T>G
c.5897T>G (p.Met1966Arg)
c.8858T>G (p.Met2953Arg)
c.8750T>G (p.Met2917Arg)
c.8732T>G (p.Met2911Arg)
c.5504T>G (p.Met1835Arg)
c.3434T>G (p.Met1145Arg)
c.8807T>G (p.Met2936Arg)
c.8753T>G (p.Met2918Arg)
c.8543T>G (p.Met2848Arg)
c.8189T>G (p.Met2730Arg)
c.6086T>G (p.Met2029Arg)
n.9036T>G
c.8672T>G (p.Met2891Arg)
c.7868T>G (p.Met2623Arg)
c.7673T>G (p.Met2558Arg)
n.9030T>G
n.9085T>G
5g.37125341A>GCA359499275CPLANE1n.1860T>C
c.8861T>C (p.Met2954Thr)
n.722T>C
c.8699T>C (p.Met2900Thr)
c.5873T>C (n.5873T>C)
n.4042T>C
n.342-3557T>C
c.5897T>C (p.Met1966Thr)
c.8858T>C (p.Met2953Thr)
c.8750T>C (p.Met2917Thr)
c.8732T>C (p.Met2911Thr)
c.5504T>C (p.Met1835Thr)
c.3434T>C (p.Met1145Thr)
c.8807T>C (p.Met2936Thr)
c.8753T>C (p.Met2918Thr)
c.8543T>C (p.Met2848Thr)
c.8189T>C (p.Met2730Thr)
c.6086T>C (p.Met2029Thr)
n.9036T>C
c.8672T>C (p.Met2891Thr)
c.7868T>C (p.Met2623Thr)
c.7673T>C (p.Met2558Thr)
n.9030T>C
n.9085T>C
5g.37125341A>TCA117059240CPLANE1n.1860T>A
c.8861T>A (p.Met2954Lys)
n.722T>A
c.8699T>A (p.Met2900Lys)
c.5873T>A (n.5873T>A)
n.4042T>A
n.342-3557T>A
c.5897T>A (p.Met1966Lys)
c.8858T>A (p.Met2953Lys)
c.8750T>A (p.Met2917Lys)
c.8732T>A (p.Met2911Lys)
c.5504T>A (p.Met1835Lys)
c.3434T>A (p.Met1145Lys)
c.8807T>A (p.Met2936Lys)
c.8753T>A (p.Met2918Lys)
c.8543T>A (p.Met2848Lys)
c.8189T>A (p.Met2730Lys)
c.6086T>A (p.Met2029Lys)
n.9036T>A
c.8672T>A (p.Met2891Lys)
c.7868T>A (p.Met2623Lys)
c.7673T>A (p.Met2558Lys)
n.9030T>A
n.9085T>A
 dbSNP
5g.37125342T>ACA359499280CPLANE1n.1859A>T
c.8860A>T (p.Met2954Leu)
n.721A>T
c.8698A>T (p.Met2900Leu)
c.5872A>T (n.5872A>T)
n.4041A>T
n.342-3558A>T
c.5896A>T (p.Met1966Leu)
c.8857A>T (p.Met2953Leu)
c.8749A>T (p.Met2917Leu)
c.8731A>T (p.Met2911Leu)
c.5503A>T (p.Met1835Leu)
c.3433A>T (p.Met1145Leu)
c.8806A>T (p.Met2936Leu)
c.8752A>T (p.Met2918Leu)
c.8542A>T (p.Met2848Leu)
c.8188A>T (p.Met2730Leu)
c.6085A>T (p.Met2029Leu)
n.9035A>T
c.8671A>T (p.Met2891Leu)
c.7867A>T (p.Met2623Leu)
c.7672A>T (p.Met2558Leu)
n.9029A>T
n.9084A>T
5g.37125342T>CCA359499285CPLANE1n.1859A>G
c.8860A>G (p.Met2954Val)
n.721A>G
c.8698A>G (p.Met2900Val)
c.5872A>G (n.5872A>G)
n.4041A>G
n.342-3558A>G
c.5896A>G (p.Met1966Val)
c.8857A>G (p.Met2953Val)
c.8749A>G (p.Met2917Val)
c.8731A>G (p.Met2911Val)
c.5503A>G (p.Met1835Val)
c.3433A>G (p.Met1145Val)
c.8806A>G (p.Met2936Val)
c.8752A>G (p.Met2918Val)
c.8542A>G (p.Met2848Val)
c.8188A>G (p.Met2730Val)
c.6085A>G (p.Met2029Val)
n.9035A>G
c.8671A>G (p.Met2891Val)
c.7867A>G (p.Met2623Val)
c.7672A>G (p.Met2558Val)
n.9029A>G
n.9084A>G
 gnomAD v4
5g.37125342T>GCA359499314CPLANE1n.1859A>C
c.8860A>C (p.Met2954Leu)
n.721A>C
c.8698A>C (p.Met2900Leu)
c.5872A>C (n.5872A>C)
n.4041A>C
n.342-3558A>C
c.5896A>C (p.Met1966Leu)
c.8857A>C (p.Met2953Leu)
c.8749A>C (p.Met2917Leu)
c.8731A>C (p.Met2911Leu)
c.5503A>C (p.Met1835Leu)
c.3433A>C (p.Met1145Leu)
c.8806A>C (p.Met2936Leu)
c.8752A>C (p.Met2918Leu)
c.8542A>C (p.Met2848Leu)
c.8188A>C (p.Met2730Leu)
c.6085A>C (p.Met2029Leu)
n.9035A>C
c.8671A>C (p.Met2891Leu)
c.7867A>C (p.Met2623Leu)
c.7672A>C (p.Met2558Leu)
n.9029A>C
n.9084A>C
5g.37125343C>ACA359499321CPLANE1n.1858G>T
c.8859G>T (p.Trp2953Cys)
n.720G>T
c.8697G>T (p.Trp2899Cys)
c.5871G>T (n.5871G>T)
n.4040G>T
n.342-3559G>T
c.5895G>T (p.Trp1965Cys)
c.8856G>T (p.Trp2952Cys)
c.8748G>T (p.Trp2916Cys)
c.8730G>T (p.Trp2910Cys)
c.5502G>T (p.Trp1834Cys)
c.3432G>T (p.Trp1144Cys)
c.8805G>T (p.Trp2935Cys)
c.8751G>T (p.Trp2917Cys)
c.8541G>T (p.Trp2847Cys)
c.8187G>T (p.Trp2729Cys)
c.6084G>T (p.Trp2028Cys)
n.9034G>T
c.8670G>T (p.Trp2890Cys)
c.7866G>T (p.Trp2622Cys)
c.7671G>T (p.Trp2557Cys)
n.9028G>T
n.9083G>T
 gnomAD v4
5g.37125343C=CA1539667667CPLANE1n.1858G=
c.8859G= (p.Trp2953=)
n.720G=
c.8697G= (p.Trp2899=)
c.5871G= (n.5871G=)
n.4040G=
n.342-3559G=
c.5895G= (p.Trp1965=)
c.8856G= (p.Trp2952=)
c.8748G= (p.Trp2916=)
c.8730G= (p.Trp2910=)
c.5502G= (p.Trp1834=)
c.3432G= (p.Trp1144=)
c.8805G= (p.Trp2935=)
c.8751G= (p.Trp2917=)
c.8541G= (p.Trp2847=)
c.8187G= (p.Trp2729=)
c.6084G= (p.Trp2028=)
n.9034G=
c.8670G= (p.Trp2890=)
c.7866G= (p.Trp2622=)
c.7671G= (p.Trp2557=)
n.9028G=
n.9083G=
5g.37125343C>GCA359499323CPLANE1n.1858G>C
c.8859G>C (p.Trp2953Cys)
n.720G>C
c.8697G>C (p.Trp2899Cys)
c.5871G>C (n.5871G>C)
n.4040G>C
n.342-3559G>C
c.5895G>C (p.Trp1965Cys)
c.8856G>C (p.Trp2952Cys)
c.8748G>C (p.Trp2916Cys)
c.8730G>C (p.Trp2910Cys)
c.5502G>C (p.Trp1834Cys)
c.3432G>C (p.Trp1144Cys)
c.8805G>C (p.Trp2935Cys)
c.8751G>C (p.Trp2917Cys)
c.8541G>C (p.Trp2847Cys)
c.8187G>C (p.Trp2729Cys)
c.6084G>C (p.Trp2028Cys)
n.9034G>C
c.8670G>C (p.Trp2890Cys)
c.7866G>C (p.Trp2622Cys)
c.7671G>C (p.Trp2557Cys)
n.9028G>C
n.9083G>C
5g.37125343C>TCA359499327CPLANE1n.1858G>A
c.8859G>A (p.Trp2953Ter)
n.720G>A
c.8697G>A (p.Trp2899Ter)
c.5871G>A (n.5871G>A)
n.4040G>A
n.342-3559G>A
c.5895G>A (p.Trp1965Ter)
c.8856G>A (p.Trp2952Ter)
c.8748G>A (p.Trp2916Ter)
c.8730G>A (p.Trp2910Ter)
c.5502G>A (p.Trp1834Ter)
c.3432G>A (p.Trp1144Ter)
c.8805G>A (p.Trp2935Ter)
c.8751G>A (p.Trp2917Ter)
c.8541G>A (p.Trp2847Ter)
c.8187G>A (p.Trp2729Ter)
c.6084G>A (p.Trp2028Ter)
n.9034G>A
c.8670G>A (p.Trp2890Ter)
c.7866G>A (p.Trp2622Ter)
c.7671G>A (p.Trp2557Ter)
n.9028G>A
n.9083G>A
 dbSNP
5g.37125344C>ACA359499337CPLANE1n.1857G>T
c.8858G>T (p.Trp2953Leu)
n.719G>T
c.8696G>T (p.Trp2899Leu)
c.5870G>T (n.5870G>T)
n.4039G>T
n.342-3560G>T
c.5894G>T (p.Trp1965Leu)
c.8855G>T (p.Trp2952Leu)
c.8747G>T (p.Trp2916Leu)
c.8729G>T (p.Trp2910Leu)
c.5501G>T (p.Trp1834Leu)
c.3431G>T (p.Trp1144Leu)
c.8804G>T (p.Trp2935Leu)
c.8750G>T (p.Trp2917Leu)
c.8540G>T (p.Trp2847Leu)
c.8186G>T (p.Trp2729Leu)
c.6083G>T (p.Trp2028Leu)
n.9033G>T
c.8669G>T (p.Trp2890Leu)
c.7865G>T (p.Trp2622Leu)
c.7670G>T (p.Trp2557Leu)
n.9027G>T
n.9082G>T
5g.37125344C=CA1539667670CPLANE1n.1857G=
c.8858G= (p.Trp2953=)
n.719G=
c.8696G= (p.Trp2899=)
c.5870G= (n.5870G=)
n.4039G=
n.342-3560G=
c.5894G= (p.Trp1965=)
c.8855G= (p.Trp2952=)
c.8747G= (p.Trp2916=)
c.8729G= (p.Trp2910=)
c.5501G= (p.Trp1834=)
c.3431G= (p.Trp1144=)
c.8804G= (p.Trp2935=)
c.8750G= (p.Trp2917=)
c.8540G= (p.Trp2847=)
c.8186G= (p.Trp2729=)
c.6083G= (p.Trp2028=)
n.9033G=
c.8669G= (p.Trp2890=)
c.7865G= (p.Trp2622=)
c.7670G= (p.Trp2557=)
n.9027G=
n.9082G=
5g.37125344C>GCA359499336CPLANE1n.1857G>C
c.8858G>C (p.Trp2953Ser)
n.719G>C
c.8696G>C (p.Trp2899Ser)
c.5870G>C (n.5870G>C)
n.4039G>C
n.342-3560G>C
c.5894G>C (p.Trp1965Ser)
c.8855G>C (p.Trp2952Ser)
c.8747G>C (p.Trp2916Ser)
c.8729G>C (p.Trp2910Ser)
c.5501G>C (p.Trp1834Ser)
c.3431G>C (p.Trp1144Ser)
c.8804G>C (p.Trp2935Ser)
c.8750G>C (p.Trp2917Ser)
c.8540G>C (p.Trp2847Ser)
c.8186G>C (p.Trp2729Ser)
c.6083G>C (p.Trp2028Ser)
n.9033G>C
c.8669G>C (p.Trp2890Ser)
c.7865G>C (p.Trp2622Ser)
c.7670G>C (p.Trp2557Ser)
n.9027G>C
n.9082G>C
5g.37125344C>TCA359499333CPLANE1n.1857G>A
c.8858G>A (p.Trp2953Ter)
n.719G>A
c.8696G>A (p.Trp2899Ter)
c.5870G>A (n.5870G>A)
n.4039G>A
n.342-3560G>A
c.5894G>A (p.Trp1965Ter)
c.8855G>A (p.Trp2952Ter)
c.8747G>A (p.Trp2916Ter)
c.8729G>A (p.Trp2910Ter)
c.5501G>A (p.Trp1834Ter)
c.3431G>A (p.Trp1144Ter)
c.8804G>A (p.Trp2935Ter)
c.8750G>A (p.Trp2917Ter)
c.8540G>A (p.Trp2847Ter)
c.8186G>A (p.Trp2729Ter)
c.6083G>A (p.Trp2028Ter)
n.9033G>A
c.8669G>A (p.Trp2890Ter)
c.7865G>A (p.Trp2622Ter)
c.7670G>A (p.Trp2557Ter)
n.9027G>A
n.9082G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.37125345A>CCA359499338CPLANE1n.1856T>G
c.8857T>G (p.Trp2953Gly)
n.718T>G
c.8695T>G (p.Trp2899Gly)
c.5869T>G (n.5869T>G)
n.4038T>G
n.342-3561T>G
c.5893T>G (p.Trp1965Gly)
c.8854T>G (p.Trp2952Gly)
c.8746T>G (p.Trp2916Gly)
c.8728T>G (p.Trp2910Gly)
c.5500T>G (p.Trp1834Gly)
c.3430T>G (p.Trp1144Gly)
c.8803T>G (p.Trp2935Gly)
c.8749T>G (p.Trp2917Gly)
c.8539T>G (p.Trp2847Gly)
c.8185T>G (p.Trp2729Gly)
c.6082T>G (p.Trp2028Gly)
n.9032T>G
c.8668T>G (p.Trp2890Gly)
c.7864T>G (p.Trp2622Gly)
c.7669T>G (p.Trp2557Gly)
n.9026T>G
n.9081T>G
5g.37125345A>GCA359499339CPLANE1n.1856T>C
c.8857T>C (p.Trp2953Arg)
n.718T>C
c.8695T>C (p.Trp2899Arg)
c.5869T>C (n.5869T>C)
n.4038T>C
n.342-3561T>C
c.5893T>C (p.Trp1965Arg)
c.8854T>C (p.Trp2952Arg)
c.8746T>C (p.Trp2916Arg)
c.8728T>C (p.Trp2910Arg)
c.5500T>C (p.Trp1834Arg)
c.3430T>C (p.Trp1144Arg)
c.8803T>C (p.Trp2935Arg)
c.8749T>C (p.Trp2917Arg)
c.8539T>C (p.Trp2847Arg)
c.8185T>C (p.Trp2729Arg)
c.6082T>C (p.Trp2028Arg)
n.9032T>C
c.8668T>C (p.Trp2890Arg)
c.7864T>C (p.Trp2622Arg)
c.7669T>C (p.Trp2557Arg)
n.9026T>C
n.9081T>C
5g.37125345A>TCA359499340CPLANE1n.1856T>A
c.8857T>A (p.Trp2953Arg)
n.718T>A
c.8695T>A (p.Trp2899Arg)
c.5869T>A (n.5869T>A)
n.4038T>A
n.342-3561T>A
c.5893T>A (p.Trp1965Arg)
c.8854T>A (p.Trp2952Arg)
c.8746T>A (p.Trp2916Arg)
c.8728T>A (p.Trp2910Arg)
c.5500T>A (p.Trp1834Arg)
c.3430T>A (p.Trp1144Arg)
c.8803T>A (p.Trp2935Arg)
c.8749T>A (p.Trp2917Arg)
c.8539T>A (p.Trp2847Arg)
c.8185T>A (p.Trp2729Arg)
c.6082T>A (p.Trp2028Arg)
n.9032T>A
c.8668T>A (p.Trp2890Arg)
c.7864T>A (p.Trp2622Arg)
c.7669T>A (p.Trp2557Arg)
n.9026T>A
n.9081T>A
5g.37125346G>ACA443922042CPLANE1n.1855C>T
c.8856C>T (p.Ala2952=)
n.717C>T
c.8694C>T (p.Ala2898=)
c.5868C>T (n.5868C>T)
n.4037C>T
n.342-3562C>T
c.5892C>T (p.Ala1964=)
c.8853C>T (p.Ala2951=)
c.8745C>T (p.Ala2915=)
c.8727C>T (p.Ala2909=)
c.5499C>T (p.Ala1833=)
c.3429C>T (p.Ala1143=)
c.8802C>T (p.Ala2934=)
c.8748C>T (p.Ala2916=)
c.8538C>T (p.Ala2846=)
c.8184C>T (p.Ala2728=)
c.6081C>T (p.Ala2027=)
n.9031C>T
c.8667C>T (p.Ala2889=)
c.7863C>T (p.Ala2621=)
c.7668C>T (p.Ala2556=)
n.9025C>T
n.9080C>T
5g.37125346G>CCA443922044CPLANE1n.1855C>G
c.8856C>G (p.Ala2952=)
n.717C>G
c.8694C>G (p.Ala2898=)
c.5868C>G (n.5868C>G)
n.4037C>G
n.342-3562C>G
c.5892C>G (p.Ala1964=)
c.8853C>G (p.Ala2951=)
c.8745C>G (p.Ala2915=)
c.8727C>G (p.Ala2909=)
c.5499C>G (p.Ala1833=)
c.3429C>G (p.Ala1143=)
c.8802C>G (p.Ala2934=)
c.8748C>G (p.Ala2916=)
c.8538C>G (p.Ala2846=)
c.8184C>G (p.Ala2728=)
c.6081C>G (p.Ala2027=)
n.9031C>G
c.8667C>G (p.Ala2889=)
c.7863C>G (p.Ala2621=)
c.7668C>G (p.Ala2556=)
n.9025C>G
n.9080C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37125346G=CA1539667674CPLANE1n.1855C=
c.8856C= (p.Ala2952=)
n.717C=
c.8694C= (p.Ala2898=)
c.5868C= (n.5868C=)
n.4037C=
n.342-3562C=
c.5892C= (p.Ala1964=)
c.8853C= (p.Ala2951=)
c.8745C= (p.Ala2915=)
c.8727C= (p.Ala2909=)
c.5499C= (p.Ala1833=)
c.3429C= (p.Ala1143=)
c.8802C= (p.Ala2934=)
c.8748C= (p.Ala2916=)
c.8538C= (p.Ala2846=)
c.8184C= (p.Ala2728=)
c.6081C= (p.Ala2027=)
n.9031C=
c.8667C= (p.Ala2889=)
c.7863C= (p.Ala2621=)
c.7668C= (p.Ala2556=)
n.9025C=
n.9080C=
5g.37125346G>TCA443922045CPLANE1n.1855C>A
c.8856C>A (p.Ala2952=)
n.717C>A
c.8694C>A (p.Ala2898=)
c.5868C>A (n.5868C>A)
n.4037C>A
n.342-3562C>A
c.5892C>A (p.Ala1964=)
c.8853C>A (p.Ala2951=)
c.8745C>A (p.Ala2915=)
c.8727C>A (p.Ala2909=)
c.5499C>A (p.Ala1833=)
c.3429C>A (p.Ala1143=)
c.8802C>A (p.Ala2934=)
c.8748C>A (p.Ala2916=)
c.8538C>A (p.Ala2846=)
c.8184C>A (p.Ala2728=)
c.6081C>A (p.Ala2027=)
n.9031C>A
c.8667C>A (p.Ala2889=)
c.7863C>A (p.Ala2621=)
c.7668C>A (p.Ala2556=)
n.9025C>A
n.9080C>A
5g.37125347G>ACA359499344CPLANE1n.1854C>T
c.8855C>T (p.Ala2952Val)
n.716C>T
c.8693C>T (p.Ala2898Val)
c.5867C>T (n.5867C>T)
n.4036C>T
n.342-3563C>T
c.5891C>T (p.Ala1964Val)
c.8852C>T (p.Ala2951Val)
c.8744C>T (p.Ala2915Val)
c.8726C>T (p.Ala2909Val)
c.5498C>T (p.Ala1833Val)
c.3428C>T (p.Ala1143Val)
c.8801C>T (p.Ala2934Val)
c.8747C>T (p.Ala2916Val)
c.8537C>T (p.Ala2846Val)
c.8183C>T (p.Ala2728Val)
c.6080C>T (p.Ala2027Val)
n.9030C>T
c.8666C>T (p.Ala2889Val)
c.7862C>T (p.Ala2621Val)
c.7667C>T (p.Ala2556Val)
n.9024C>T
n.9079C>T
 COSMIC COSMIC
5g.37125347G>CCA359499348CPLANE1n.1854C>G
c.8855C>G (p.Ala2952Gly)
n.716C>G
c.8693C>G (p.Ala2898Gly)
c.5867C>G (n.5867C>G)
n.4036C>G
n.342-3563C>G
c.5891C>G (p.Ala1964Gly)
c.8852C>G (p.Ala2951Gly)
c.8744C>G (p.Ala2915Gly)
c.8726C>G (p.Ala2909Gly)
c.5498C>G (p.Ala1833Gly)
c.3428C>G (p.Ala1143Gly)
c.8801C>G (p.Ala2934Gly)
c.8747C>G (p.Ala2916Gly)
c.8537C>G (p.Ala2846Gly)
c.8183C>G (p.Ala2728Gly)
c.6080C>G (p.Ala2027Gly)
n.9030C>G
c.8666C>G (p.Ala2889Gly)
c.7862C>G (p.Ala2621Gly)
c.7667C>G (p.Ala2556Gly)
n.9024C>G
n.9079C>G
5g.37125347G>TCA359499358CPLANE1n.1854C>A
c.8855C>A (p.Ala2952Asp)
n.716C>A
c.8693C>A (p.Ala2898Asp)
c.5867C>A (n.5867C>A)
n.4036C>A
n.342-3563C>A
c.5891C>A (p.Ala1964Asp)
c.8852C>A (p.Ala2951Asp)
c.8744C>A (p.Ala2915Asp)
c.8726C>A (p.Ala2909Asp)
c.5498C>A (p.Ala1833Asp)
c.3428C>A (p.Ala1143Asp)
c.8801C>A (p.Ala2934Asp)
c.8747C>A (p.Ala2916Asp)
c.8537C>A (p.Ala2846Asp)
c.8183C>A (p.Ala2728Asp)
c.6080C>A (p.Ala2027Asp)
n.9030C>A
c.8666C>A (p.Ala2889Asp)
c.7862C>A (p.Ala2621Asp)
c.7667C>A (p.Ala2556Asp)
n.9024C>A
n.9079C>A
 gnomAD v4
5g.37125348C>ACA359499359CPLANE1n.1853G>T
c.8854G>T (p.Ala2952Ser)
n.715G>T
c.8692G>T (p.Ala2898Ser)
c.5866G>T (n.5866G>T)
n.4035G>T
n.342-3564G>T
c.5890G>T (p.Ala1964Ser)
c.8851G>T (p.Ala2951Ser)
c.8743G>T (p.Ala2915Ser)
c.8725G>T (p.Ala2909Ser)
c.5497G>T (p.Ala1833Ser)
c.3427G>T (p.Ala1143Ser)
c.8800G>T (p.Ala2934Ser)
c.8746G>T (p.Ala2916Ser)
c.8536G>T (p.Ala2846Ser)
c.8182G>T (p.Ala2728Ser)
c.6079G>T (p.Ala2027Ser)
n.9029G>T
c.8665G>T (p.Ala2889Ser)
c.7861G>T (p.Ala2621Ser)
c.7666G>T (p.Ala2556Ser)
n.9023G>T
n.9078G>T
5g.37125348C>GCA359499363CPLANE1n.1853G>C
c.8854G>C (p.Ala2952Pro)
n.715G>C
c.8692G>C (p.Ala2898Pro)
c.5866G>C (n.5866G>C)
n.4035G>C
n.342-3564G>C
c.5890G>C (p.Ala1964Pro)
c.8851G>C (p.Ala2951Pro)
c.8743G>C (p.Ala2915Pro)
c.8725G>C (p.Ala2909Pro)
c.5497G>C (p.Ala1833Pro)
c.3427G>C (p.Ala1143Pro)
c.8800G>C (p.Ala2934Pro)
c.8746G>C (p.Ala2916Pro)
c.8536G>C (p.Ala2846Pro)
c.8182G>C (p.Ala2728Pro)
c.6079G>C (p.Ala2027Pro)
n.9029G>C
c.8665G>C (p.Ala2889Pro)
c.7861G>C (p.Ala2621Pro)
c.7666G>C (p.Ala2556Pro)
n.9023G>C
n.9078G>C
5g.37125348C>TCA359499361CPLANE1n.1853G>A
c.8854G>A (p.Ala2952Thr)
n.715G>A
c.8692G>A (p.Ala2898Thr)
c.5866G>A (n.5866G>A)
n.4035G>A
n.342-3564G>A
c.5890G>A (p.Ala1964Thr)
c.8851G>A (p.Ala2951Thr)
c.8743G>A (p.Ala2915Thr)
c.8725G>A (p.Ala2909Thr)
c.5497G>A (p.Ala1833Thr)
c.3427G>A (p.Ala1143Thr)
c.8800G>A (p.Ala2934Thr)
c.8746G>A (p.Ala2916Thr)
c.8536G>A (p.Ala2846Thr)
c.8182G>A (p.Ala2728Thr)
c.6079G>A (p.Ala2027Thr)
n.9029G>A
c.8665G>A (p.Ala2889Thr)
c.7861G>A (p.Ala2621Thr)
c.7666G>A (p.Ala2556Thr)
n.9023G>A
n.9078G>A
5g.37125349T>ACA359499367CPLANE1n.1852A>T
c.8853A>T (p.Gln2951His)
n.714A>T
c.8691A>T (p.Gln2897His)
c.5865A>T (n.5865A>T)
n.4034A>T
n.342-3565A>T
c.5889A>T (p.Gln1963His)
c.8850A>T (p.Gln2950His)
c.8742A>T (p.Gln2914His)
c.8724A>T (p.Gln2908His)
c.5496A>T (p.Gln1832His)
c.3426A>T (p.Gln1142His)
c.8799A>T (p.Gln2933His)
c.8745A>T (p.Gln2915His)
c.8535A>T (p.Gln2845His)
c.8181A>T (p.Gln2727His)
c.6078A>T (p.Gln2026His)
n.9028A>T
c.8664A>T (p.Gln2888His)
c.7860A>T (p.Gln2620His)
c.7665A>T (p.Gln2555His)
n.9022A>T
n.9077A>T
5g.37125349T>CCA443922046CPLANE1n.1852A>G
c.8853A>G (p.Gln2951=)
n.714A>G
c.8691A>G (p.Gln2897=)
c.5865A>G (n.5865A>G)
n.4034A>G
n.342-3565A>G
c.5889A>G (p.Gln1963=)
c.8850A>G (p.Gln2950=)
c.8742A>G (p.Gln2914=)
c.8724A>G (p.Gln2908=)
c.5496A>G (p.Gln1832=)
c.3426A>G (p.Gln1142=)
c.8799A>G (p.Gln2933=)
c.8745A>G (p.Gln2915=)
c.8535A>G (p.Gln2845=)
c.8181A>G (p.Gln2727=)
c.6078A>G (p.Gln2026=)
n.9028A>G
c.8664A>G (p.Gln2888=)
c.7860A>G (p.Gln2620=)
c.7665A>G (p.Gln2555=)
n.9022A>G
n.9077A>G
5g.37125349T>GCA359499373CPLANE1n.1852A>C
c.8853A>C (p.Gln2951His)
n.714A>C
c.8691A>C (p.Gln2897His)
c.5865A>C (n.5865A>C)
n.4034A>C
n.342-3565A>C
c.5889A>C (p.Gln1963His)
c.8850A>C (p.Gln2950His)
c.8742A>C (p.Gln2914His)
c.8724A>C (p.Gln2908His)
c.5496A>C (p.Gln1832His)
c.3426A>C (p.Gln1142His)
c.8799A>C (p.Gln2933His)
c.8745A>C (p.Gln2915His)
c.8535A>C (p.Gln2845His)
c.8181A>C (p.Gln2727His)
c.6078A>C (p.Gln2026His)
n.9028A>C
c.8664A>C (p.Gln2888His)
c.7860A>C (p.Gln2620His)
c.7665A>C (p.Gln2555His)
n.9022A>C
n.9077A>C
5g.37125350T>ACA359499375CPLANE1n.1851A>T
c.8852A>T (p.Gln2951Leu)
n.713A>T
c.8690A>T (p.Gln2897Leu)
c.5864A>T (n.5864A>T)
n.4033A>T
n.342-3566A>T
c.5888A>T (p.Gln1963Leu)
c.8849A>T (p.Gln2950Leu)
c.8741A>T (p.Gln2914Leu)
c.8723A>T (p.Gln2908Leu)
c.5495A>T (p.Gln1832Leu)
c.3425A>T (p.Gln1142Leu)
c.8798A>T (p.Gln2933Leu)
c.8744A>T (p.Gln2915Leu)
c.8534A>T (p.Gln2845Leu)
c.8180A>T (p.Gln2727Leu)
c.6077A>T (p.Gln2026Leu)
n.9027A>T
c.8663A>T (p.Gln2888Leu)
c.7859A>T (p.Gln2620Leu)
c.7664A>T (p.Gln2555Leu)
n.9021A>T
n.9076A>T
5g.37125350T>CCA359499382CPLANE1n.1851A>G
c.8852A>G (p.Gln2951Arg)
n.713A>G
c.8690A>G (p.Gln2897Arg)
c.5864A>G (n.5864A>G)
n.4033A>G
n.342-3566A>G
c.5888A>G (p.Gln1963Arg)
c.8849A>G (p.Gln2950Arg)
c.8741A>G (p.Gln2914Arg)
c.8723A>G (p.Gln2908Arg)
c.5495A>G (p.Gln1832Arg)
c.3425A>G (p.Gln1142Arg)
c.8798A>G (p.Gln2933Arg)
c.8744A>G (p.Gln2915Arg)
c.8534A>G (p.Gln2845Arg)
c.8180A>G (p.Gln2727Arg)
c.6077A>G (p.Gln2026Arg)
n.9027A>G
c.8663A>G (p.Gln2888Arg)
c.7859A>G (p.Gln2620Arg)
c.7664A>G (p.Gln2555Arg)
n.9021A>G
n.9076A>G
5g.37125350T>GCA359499385CPLANE1n.1851A>C
c.8852A>C (p.Gln2951Pro)
n.713A>C
c.8690A>C (p.Gln2897Pro)
c.5864A>C (n.5864A>C)
n.4033A>C
n.342-3566A>C
c.5888A>C (p.Gln1963Pro)
c.8849A>C (p.Gln2950Pro)
c.8741A>C (p.Gln2914Pro)
c.8723A>C (p.Gln2908Pro)
c.5495A>C (p.Gln1832Pro)
c.3425A>C (p.Gln1142Pro)
c.8798A>C (p.Gln2933Pro)
c.8744A>C (p.Gln2915Pro)
c.8534A>C (p.Gln2845Pro)
c.8180A>C (p.Gln2727Pro)
c.6077A>C (p.Gln2026Pro)
n.9027A>C
c.8663A>C (p.Gln2888Pro)
c.7859A>C (p.Gln2620Pro)
c.7664A>C (p.Gln2555Pro)
n.9021A>C
n.9076A>C
5g.37125351G>ACA359499394CPLANE1n.1850C>T
c.8851C>T (p.Gln2951Ter)
n.712C>T
c.8689C>T (p.Gln2897Ter)
c.5863C>T (n.5863C>T)
n.4032C>T
n.342-3567C>T
c.5887C>T (p.Gln1963Ter)
c.8848C>T (p.Gln2950Ter)
c.8740C>T (p.Gln2914Ter)
c.8722C>T (p.Gln2908Ter)
c.5494C>T (p.Gln1832Ter)
c.3424C>T (p.Gln1142Ter)
c.8797C>T (p.Gln2933Ter)
c.8743C>T (p.Gln2915Ter)
c.8533C>T (p.Gln2845Ter)
c.8179C>T (p.Gln2727Ter)
c.6076C>T (p.Gln2026Ter)
n.9026C>T
c.8662C>T (p.Gln2888Ter)
c.7858C>T (p.Gln2620Ter)
c.7663C>T (p.Gln2555Ter)
n.9020C>T
n.9075C>T
5g.37125351G>CCA359499396CPLANE1n.1850C>G
c.8851C>G (p.Gln2951Glu)
n.712C>G
c.8689C>G (p.Gln2897Glu)
c.5863C>G (n.5863C>G)
n.4032C>G
n.342-3567C>G
c.5887C>G (p.Gln1963Glu)
c.8848C>G (p.Gln2950Glu)
c.8740C>G (p.Gln2914Glu)
c.8722C>G (p.Gln2908Glu)
c.5494C>G (p.Gln1832Glu)
c.3424C>G (p.Gln1142Glu)
c.8797C>G (p.Gln2933Glu)
c.8743C>G (p.Gln2915Glu)
c.8533C>G (p.Gln2845Glu)
c.8179C>G (p.Gln2727Glu)
c.6076C>G (p.Gln2026Glu)
n.9026C>G
c.8662C>G (p.Gln2888Glu)
c.7858C>G (p.Gln2620Glu)
c.7663C>G (p.Gln2555Glu)
n.9020C>G
n.9075C>G
 dbSNP
5g.37125351G=CA1539667680CPLANE1n.1850C=
c.8851C= (p.Gln2951=)
n.712C=
c.8689C= (p.Gln2897=)
c.5863C= (n.5863C=)
n.4032C=
n.342-3567C=
c.5887C= (p.Gln1963=)
c.8848C= (p.Gln2950=)
c.8740C= (p.Gln2914=)
c.8722C= (p.Gln2908=)
c.5494C= (p.Gln1832=)
c.3424C= (p.Gln1142=)
c.8797C= (p.Gln2933=)
c.8743C= (p.Gln2915=)
c.8533C= (p.Gln2845=)
c.8179C= (p.Gln2727=)
c.6076C= (p.Gln2026=)
n.9026C=
c.8662C= (p.Gln2888=)
c.7858C= (p.Gln2620=)
c.7663C= (p.Gln2555=)
n.9020C=
n.9075C=
5g.37125351G>TCA359499399CPLANE1n.1850C>A
c.8851C>A (p.Gln2951Lys)
n.712C>A
c.8689C>A (p.Gln2897Lys)
c.5863C>A (n.5863C>A)
n.4032C>A
n.342-3567C>A
c.5887C>A (p.Gln1963Lys)
c.8848C>A (p.Gln2950Lys)
c.8740C>A (p.Gln2914Lys)
c.8722C>A (p.Gln2908Lys)
c.5494C>A (p.Gln1832Lys)
c.3424C>A (p.Gln1142Lys)
c.8797C>A (p.Gln2933Lys)
c.8743C>A (p.Gln2915Lys)
c.8533C>A (p.Gln2845Lys)
c.8179C>A (p.Gln2727Lys)
c.6076C>A (p.Gln2026Lys)
n.9026C>A
c.8662C>A (p.Gln2888Lys)
c.7858C>A (p.Gln2620Lys)
c.7663C>A (p.Gln2555Lys)
n.9020C>A
n.9075C>A
5g.37125352A>CCA359499429CPLANE1n.1849T>G
c.8850T>G (p.Ile2950Met)
n.711T>G
c.8688T>G (p.Ile2896Met)
c.5862T>G (n.5862T>G)
n.4031T>G
n.342-3568T>G
c.5886T>G (p.Ile1962Met)
c.8847T>G (p.Ile2949Met)
c.8739T>G (p.Ile2913Met)
c.8721T>G (p.Ile2907Met)
c.5493T>G (p.Ile1831Met)
c.3423T>G (p.Ile1141Met)
c.8796T>G (p.Ile2932Met)
c.8742T>G (p.Ile2914Met)
c.8532T>G (p.Ile2844Met)
c.8178T>G (p.Ile2726Met)
c.6075T>G (p.Ile2025Met)
n.9025T>G
c.8661T>G (p.Ile2887Met)
c.7857T>G (p.Ile2619Met)
c.7662T>G (p.Ile2554Met)
n.9019T>G
n.9074T>G
5g.37125352A>GCA443922048CPLANE1n.1849T>C
c.8850T>C (p.Ile2950=)
n.711T>C
c.8688T>C (p.Ile2896=)
c.5862T>C (n.5862T>C)
n.4031T>C
n.342-3568T>C
c.5886T>C (p.Ile1962=)
c.8847T>C (p.Ile2949=)
c.8739T>C (p.Ile2913=)
c.8721T>C (p.Ile2907=)
c.5493T>C (p.Ile1831=)
c.3423T>C (p.Ile1141=)
c.8796T>C (p.Ile2932=)
c.8742T>C (p.Ile2914=)
c.8532T>C (p.Ile2844=)
c.8178T>C (p.Ile2726=)
c.6075T>C (p.Ile2025=)
n.9025T>C
c.8661T>C (p.Ile2887=)
c.7857T>C (p.Ile2619=)
c.7662T>C (p.Ile2554=)
n.9019T>C
n.9074T>C
5g.37125352A>TCA443922049CPLANE1n.1849T>A
c.8850T>A (p.Ile2950=)
n.711T>A
c.8688T>A (p.Ile2896=)
c.5862T>A (n.5862T>A)
n.4031T>A
n.342-3568T>A
c.5886T>A (p.Ile1962=)
c.8847T>A (p.Ile2949=)
c.8739T>A (p.Ile2913=)
c.8721T>A (p.Ile2907=)
c.5493T>A (p.Ile1831=)
c.3423T>A (p.Ile1141=)
c.8796T>A (p.Ile2932=)
c.8742T>A (p.Ile2914=)
c.8532T>A (p.Ile2844=)
c.8178T>A (p.Ile2726=)
c.6075T>A (p.Ile2025=)
n.9025T>A
c.8661T>A (p.Ile2887=)
c.7857T>A (p.Ile2619=)
c.7662T>A (p.Ile2554=)
n.9019T>A
n.9074T>A
5g.37125353A=CA1539667682CPLANE1n.1848T=
c.8849T= (p.Ile2950=)
n.710T=
c.8687T= (p.Ile2896=)
c.5861T= (n.5861T=)
n.4030T=
n.342-3569T=
c.5885T= (p.Ile1962=)
c.8846T= (p.Ile2949=)
c.8738T= (p.Ile2913=)
c.8720T= (p.Ile2907=)
c.5492T= (p.Ile1831=)
c.3422T= (p.Ile1141=)
c.8795T= (p.Ile2932=)
c.8741T= (p.Ile2914=)
c.8531T= (p.Ile2844=)
c.8177T= (p.Ile2726=)
c.6074T= (p.Ile2025=)
n.9024T=
c.8660T= (p.Ile2887=)
c.7856T= (p.Ile2619=)
c.7661T= (p.Ile2554=)
n.9018T=
n.9073T=
5g.37125353A>CCA359499433CPLANE1n.1848T>G
c.8849T>G (p.Ile2950Ser)
n.710T>G
c.8687T>G (p.Ile2896Ser)
c.5861T>G (n.5861T>G)
n.4030T>G
n.342-3569T>G
c.5885T>G (p.Ile1962Ser)
c.8846T>G (p.Ile2949Ser)
c.8738T>G (p.Ile2913Ser)
c.8720T>G (p.Ile2907Ser)
c.5492T>G (p.Ile1831Ser)
c.3422T>G (p.Ile1141Ser)
c.8795T>G (p.Ile2932Ser)
c.8741T>G (p.Ile2914Ser)
c.8531T>G (p.Ile2844Ser)
c.8177T>G (p.Ile2726Ser)
c.6074T>G (p.Ile2025Ser)
n.9024T>G
c.8660T>G (p.Ile2887Ser)
c.7856T>G (p.Ile2619Ser)
c.7661T>G (p.Ile2554Ser)
n.9018T>G
n.9073T>G
5g.37125353A>GCA359499436CPLANE1n.1848T>C
c.8849T>C (p.Ile2950Thr)
n.710T>C
c.8687T>C (p.Ile2896Thr)
c.5861T>C (n.5861T>C)
n.4030T>C
n.342-3569T>C
c.5885T>C (p.Ile1962Thr)
c.8846T>C (p.Ile2949Thr)
c.8738T>C (p.Ile2913Thr)
c.8720T>C (p.Ile2907Thr)
c.5492T>C (p.Ile1831Thr)
c.3422T>C (p.Ile1141Thr)
c.8795T>C (p.Ile2932Thr)
c.8741T>C (p.Ile2914Thr)
c.8531T>C (p.Ile2844Thr)
c.8177T>C (p.Ile2726Thr)
c.6074T>C (p.Ile2025Thr)
n.9024T>C
c.8660T>C (p.Ile2887Thr)
c.7856T>C (p.Ile2619Thr)
c.7661T>C (p.Ile2554Thr)
n.9018T>C
n.9073T>C
 dbSNP
5g.37125353A>TCA359499440CPLANE1n.1848T>A
c.8849T>A (p.Ile2950Asn)
n.710T>A
c.8687T>A (p.Ile2896Asn)
c.5861T>A (n.5861T>A)
n.4030T>A
n.342-3569T>A
c.5885T>A (p.Ile1962Asn)
c.8846T>A (p.Ile2949Asn)
c.8738T>A (p.Ile2913Asn)
c.8720T>A (p.Ile2907Asn)
c.5492T>A (p.Ile1831Asn)
c.3422T>A (p.Ile1141Asn)
c.8795T>A (p.Ile2932Asn)
c.8741T>A (p.Ile2914Asn)
c.8531T>A (p.Ile2844Asn)
c.8177T>A (p.Ile2726Asn)
c.6074T>A (p.Ile2025Asn)
n.9024T>A
c.8660T>A (p.Ile2887Asn)
c.7856T>A (p.Ile2619Asn)
c.7661T>A (p.Ile2554Asn)
n.9018T>A
n.9073T>A
5g.37125354T>ACA359499463CPLANE1n.1847A>T
c.8848A>T (p.Ile2950Phe)
n.709A>T
c.8686A>T (p.Ile2896Phe)
c.5860A>T (n.5860A>T)
n.4029A>T
n.342-3570A>T
c.5884A>T (p.Ile1962Phe)
c.8845A>T (p.Ile2949Phe)
c.8737A>T (p.Ile2913Phe)
c.8719A>T (p.Ile2907Phe)
c.5491A>T (p.Ile1831Phe)
c.3421A>T (p.Ile1141Phe)
c.8794A>T (p.Ile2932Phe)
c.8740A>T (p.Ile2914Phe)
c.8530A>T (p.Ile2844Phe)
c.8176A>T (p.Ile2726Phe)
c.6073A>T (p.Ile2025Phe)
n.9023A>T
c.8659A>T (p.Ile2887Phe)
c.7855A>T (p.Ile2619Phe)
c.7660A>T (p.Ile2554Phe)
n.9017A>T
n.9072A>T
5g.37125354T>CCA359499451CPLANE1n.1847A>G
c.8848A>G (p.Ile2950Val)
n.709A>G
c.8686A>G (p.Ile2896Val)
c.5860A>G (n.5860A>G)
n.4029A>G
n.342-3570A>G
c.5884A>G (p.Ile1962Val)
c.8845A>G (p.Ile2949Val)
c.8737A>G (p.Ile2913Val)
c.8719A>G (p.Ile2907Val)
c.5491A>G (p.Ile1831Val)
c.3421A>G (p.Ile1141Val)
c.8794A>G (p.Ile2932Val)
c.8740A>G (p.Ile2914Val)
c.8530A>G (p.Ile2844Val)
c.8176A>G (p.Ile2726Val)
c.6073A>G (p.Ile2025Val)
n.9023A>G
c.8659A>G (p.Ile2887Val)
c.7855A>G (p.Ile2619Val)
c.7660A>G (p.Ile2554Val)
n.9017A>G
n.9072A>G
5g.37125354T>GCA359499453CPLANE1n.1847A>C
c.8848A>C (p.Ile2950Leu)
n.709A>C
c.8686A>C (p.Ile2896Leu)
c.5860A>C (n.5860A>C)
n.4029A>C
n.342-3570A>C
c.5884A>C (p.Ile1962Leu)
c.8845A>C (p.Ile2949Leu)
c.8737A>C (p.Ile2913Leu)
c.8719A>C (p.Ile2907Leu)
c.5491A>C (p.Ile1831Leu)
c.3421A>C (p.Ile1141Leu)
c.8794A>C (p.Ile2932Leu)
c.8740A>C (p.Ile2914Leu)
c.8530A>C (p.Ile2844Leu)
c.8176A>C (p.Ile2726Leu)
c.6073A>C (p.Ile2025Leu)
n.9023A>C
c.8659A>C (p.Ile2887Leu)
c.7855A>C (p.Ile2619Leu)
c.7660A>C (p.Ile2554Leu)
n.9017A>C
n.9072A>C
 gnomAD v4
5g.37125355C>ACA359499466CPLANE1n.1846G>T
c.8847G>T (p.Glu2949Asp)
n.708G>T
c.8685G>T (p.Glu2895Asp)
c.5859G>T (n.5859G>T)
n.4028G>T
n.342-3571G>T
c.5883G>T (p.Glu1961Asp)
c.8844G>T (p.Glu2948Asp)
c.8736G>T (p.Glu2912Asp)
c.8718G>T (p.Glu2906Asp)
c.5490G>T (p.Glu1830Asp)
c.3420G>T (p.Glu1140Asp)
c.8793G>T (p.Glu2931Asp)
c.8739G>T (p.Glu2913Asp)
c.8529G>T (p.Glu2843Asp)
c.8175G>T (p.Glu2725Asp)
c.6072G>T (p.Glu2024Asp)
n.9022G>T
c.8658G>T (p.Glu2886Asp)
c.7854G>T (p.Glu2618Asp)
c.7659G>T (p.Glu2553Asp)
n.9016G>T
n.9071G>T
5g.37125355C>GCA359499467CPLANE1n.1846G>C
c.8847G>C (p.Glu2949Asp)
n.708G>C
c.8685G>C (p.Glu2895Asp)
c.5859G>C (n.5859G>C)
n.4028G>C
n.342-3571G>C
c.5883G>C (p.Glu1961Asp)
c.8844G>C (p.Glu2948Asp)
c.8736G>C (p.Glu2912Asp)
c.8718G>C (p.Glu2906Asp)
c.5490G>C (p.Glu1830Asp)
c.3420G>C (p.Glu1140Asp)
c.8793G>C (p.Glu2931Asp)
c.8739G>C (p.Glu2913Asp)
c.8529G>C (p.Glu2843Asp)
c.8175G>C (p.Glu2725Asp)
c.6072G>C (p.Glu2024Asp)
n.9022G>C
c.8658G>C (p.Glu2886Asp)
c.7854G>C (p.Glu2618Asp)
c.7659G>C (p.Glu2553Asp)
n.9016G>C
n.9071G>C
 ClinVar gnomAD v4
5g.37125355C>TCA443922051CPLANE1n.1846G>A
c.8847G>A (p.Glu2949=)
n.708G>A
c.8685G>A (p.Glu2895=)
c.5859G>A (n.5859G>A)
n.4028G>A
n.342-3571G>A
c.5883G>A (p.Glu1961=)
c.8844G>A (p.Glu2948=)
c.8736G>A (p.Glu2912=)
c.8718G>A (p.Glu2906=)
c.5490G>A (p.Glu1830=)
c.3420G>A (p.Glu1140=)
c.8793G>A (p.Glu2931=)
c.8739G>A (p.Glu2913=)
c.8529G>A (p.Glu2843=)
c.8175G>A (p.Glu2725=)
c.6072G>A (p.Glu2024=)
n.9022G>A
c.8658G>A (p.Glu2886=)
c.7854G>A (p.Glu2618=)
c.7659G>A (p.Glu2553=)
n.9016G>A
n.9071G>A
5g.37125356T>ACA359499472CPLANE1n.1845A>T
c.8846A>T (p.Glu2949Val)
n.707A>T
c.8684A>T (p.Glu2895Val)
c.5858A>T (n.5858A>T)
n.4027A>T
n.342-3572A>T
c.5882A>T (p.Glu1961Val)
c.8843A>T (p.Glu2948Val)
c.8735A>T (p.Glu2912Val)
c.8717A>T (p.Glu2906Val)
c.5489A>T (p.Glu1830Val)
c.3419A>T (p.Glu1140Val)
c.8792A>T (p.Glu2931Val)
c.8738A>T (p.Glu2913Val)
c.8528A>T (p.Glu2843Val)
c.8174A>T (p.Glu2725Val)
c.6071A>T (p.Glu2024Val)
n.9021A>T
c.8657A>T (p.Glu2886Val)
c.7853A>T (p.Glu2618Val)
c.7658A>T (p.Glu2553Val)
n.9015A>T
n.9070A>T
5g.37125356T>CCA359499474CPLANE1n.1845A>G
c.8846A>G (p.Glu2949Gly)
n.707A>G
c.8684A>G (p.Glu2895Gly)
c.5858A>G (n.5858A>G)
n.4027A>G
n.342-3572A>G
c.5882A>G (p.Glu1961Gly)
c.8843A>G (p.Glu2948Gly)
c.8735A>G (p.Glu2912Gly)
c.8717A>G (p.Glu2906Gly)
c.5489A>G (p.Glu1830Gly)
c.3419A>G (p.Glu1140Gly)
c.8792A>G (p.Glu2931Gly)
c.8738A>G (p.Glu2913Gly)
c.8528A>G (p.Glu2843Gly)
c.8174A>G (p.Glu2725Gly)
c.6071A>G (p.Glu2024Gly)
n.9021A>G
c.8657A>G (p.Glu2886Gly)
c.7853A>G (p.Glu2618Gly)
c.7658A>G (p.Glu2553Gly)
n.9015A>G
n.9070A>G
 gnomAD v4
5g.37125356T>GCA359499476CPLANE1n.1845A>C
c.8846A>C (p.Glu2949Ala)
n.707A>C
c.8684A>C (p.Glu2895Ala)
c.5858A>C (n.5858A>C)
n.4027A>C
n.342-3572A>C
c.5882A>C (p.Glu1961Ala)
c.8843A>C (p.Glu2948Ala)
c.8735A>C (p.Glu2912Ala)
c.8717A>C (p.Glu2906Ala)
c.5489A>C (p.Glu1830Ala)
c.3419A>C (p.Glu1140Ala)
c.8792A>C (p.Glu2931Ala)
c.8738A>C (p.Glu2913Ala)
c.8528A>C (p.Glu2843Ala)
c.8174A>C (p.Glu2725Ala)
c.6071A>C (p.Glu2024Ala)
n.9021A>C
c.8657A>C (p.Glu2886Ala)
c.7853A>C (p.Glu2618Ala)
c.7658A>C (p.Glu2553Ala)
n.9015A>C
n.9070A>C
5g.37125357C>ACA359499478CPLANE1n.1844G>T
c.8845G>T (p.Glu2949Ter)
n.706G>T
c.8683G>T (p.Glu2895Ter)
c.5857G>T (n.5857G>T)
n.4026G>T
n.342-3573G>T
c.5881G>T (p.Glu1961Ter)
c.8842G>T (p.Glu2948Ter)
c.8734G>T (p.Glu2912Ter)
c.8716G>T (p.Glu2906Ter)
c.5488G>T (p.Glu1830Ter)
c.3418G>T (p.Glu1140Ter)
c.8791G>T (p.Glu2931Ter)
c.8737G>T (p.Glu2913Ter)
c.8527G>T (p.Glu2843Ter)
c.8173G>T (p.Glu2725Ter)
c.6070G>T (p.Glu2024Ter)
n.9020G>T
c.8656G>T (p.Glu2886Ter)
c.7852G>T (p.Glu2618Ter)
c.7657G>T (p.Glu2553Ter)
n.9014G>T
n.9069G>T
5g.37125357C>GCA359499482CPLANE1n.1844G>C
c.8845G>C (p.Glu2949Gln)
n.706G>C
c.8683G>C (p.Glu2895Gln)
c.5857G>C (n.5857G>C)
n.4026G>C
n.342-3573G>C
c.5881G>C (p.Glu1961Gln)
c.8842G>C (p.Glu2948Gln)
c.8734G>C (p.Glu2912Gln)
c.8716G>C (p.Glu2906Gln)
c.5488G>C (p.Glu1830Gln)
c.3418G>C (p.Glu1140Gln)
c.8791G>C (p.Glu2931Gln)
c.8737G>C (p.Glu2913Gln)
c.8527G>C (p.Glu2843Gln)
c.8173G>C (p.Glu2725Gln)
c.6070G>C (p.Glu2024Gln)
n.9020G>C
c.8656G>C (p.Glu2886Gln)
c.7852G>C (p.Glu2618Gln)
c.7657G>C (p.Glu2553Gln)
n.9014G>C
n.9069G>C
5g.37125357C>TCA359499488CPLANE1n.1844G>A
c.8845G>A (p.Glu2949Lys)
n.706G>A
c.8683G>A (p.Glu2895Lys)
c.5857G>A (n.5857G>A)
n.4026G>A
n.342-3573G>A
c.5881G>A (p.Glu1961Lys)
c.8842G>A (p.Glu2948Lys)
c.8734G>A (p.Glu2912Lys)
c.8716G>A (p.Glu2906Lys)
c.5488G>A (p.Glu1830Lys)
c.3418G>A (p.Glu1140Lys)
c.8791G>A (p.Glu2931Lys)
c.8737G>A (p.Glu2913Lys)
c.8527G>A (p.Glu2843Lys)
c.8173G>A (p.Glu2725Lys)
c.6070G>A (p.Glu2024Lys)
n.9020G>A
c.8656G>A (p.Glu2886Lys)
c.7852G>A (p.Glu2618Lys)
c.7657G>A (p.Glu2553Lys)
n.9014G>A
n.9069G>A
 gnomAD v4
5g.37125358T>ACA359499501CPLANE1n.1843A>T
c.8844A>T (p.Arg2948Ser)
n.705A>T
c.8682A>T (p.Arg2894Ser)
c.5856A>T (n.5856A>T)
n.4025A>T
n.342-3574A>T
c.5880A>T (p.Arg1960Ser)
c.8841A>T (p.Arg2947Ser)
c.8733A>T (p.Arg2911Ser)
c.8715A>T (p.Arg2905Ser)
c.5487A>T (p.Arg1829Ser)
c.3417A>T (p.Arg1139Ser)
c.8790A>T (p.Arg2930Ser)
c.8736A>T (p.Arg2912Ser)
c.8526A>T (p.Arg2842Ser)
c.8172A>T (p.Arg2724Ser)
c.6069A>T (p.Arg2023Ser)
n.9019A>T
c.8655A>T (p.Arg2885Ser)
c.7851A>T (p.Arg2617Ser)
c.7656A>T (p.Arg2552Ser)
n.9013A>T
n.9068A>T
5g.37125358T>CCA443922057CPLANE1n.1843A>G
c.8844A>G (p.Arg2948=)
n.705A>G
c.8682A>G (p.Arg2894=)
c.5856A>G (n.5856A>G)
n.4025A>G
n.342-3574A>G
c.5880A>G (p.Arg1960=)
c.8841A>G (p.Arg2947=)
c.8733A>G (p.Arg2911=)
c.8715A>G (p.Arg2905=)
c.5487A>G (p.Arg1829=)
c.3417A>G (p.Arg1139=)
c.8790A>G (p.Arg2930=)
c.8736A>G (p.Arg2912=)
c.8526A>G (p.Arg2842=)
c.8172A>G (p.Arg2724=)
c.6069A>G (p.Arg2023=)
n.9019A>G
c.8655A>G (p.Arg2885=)
c.7851A>G (p.Arg2617=)
c.7656A>G (p.Arg2552=)
n.9013A>G
n.9068A>G
5g.37125358T>GCA359499504CPLANE1n.1843A>C
c.8844A>C (p.Arg2948Ser)
n.705A>C
c.8682A>C (p.Arg2894Ser)
c.5856A>C (n.5856A>C)
n.4025A>C
n.342-3574A>C
c.5880A>C (p.Arg1960Ser)
c.8841A>C (p.Arg2947Ser)
c.8733A>C (p.Arg2911Ser)
c.8715A>C (p.Arg2905Ser)
c.5487A>C (p.Arg1829Ser)
c.3417A>C (p.Arg1139Ser)
c.8790A>C (p.Arg2930Ser)
c.8736A>C (p.Arg2912Ser)
c.8526A>C (p.Arg2842Ser)
c.8172A>C (p.Arg2724Ser)
c.6069A>C (p.Arg2023Ser)
n.9019A>C
c.8655A>C (p.Arg2885Ser)
c.7851A>C (p.Arg2617Ser)
c.7656A>C (p.Arg2552Ser)
n.9013A>C
n.9068A>C
5g.37125359C>ACA359499508CPLANE1n.1842G>T
c.8843G>T (p.Arg2948Ile)
n.704G>T
c.8681G>T (p.Arg2894Ile)
c.5855G>T (n.5855G>T)
n.4024G>T
n.342-3575G>T
c.5879G>T (p.Arg1960Ile)
c.8840G>T (p.Arg2947Ile)
c.8732G>T (p.Arg2911Ile)
c.8714G>T (p.Arg2905Ile)
c.5486G>T (p.Arg1829Ile)
c.3416G>T (p.Arg1139Ile)
c.8789G>T (p.Arg2930Ile)
c.8735G>T (p.Arg2912Ile)
c.8525G>T (p.Arg2842Ile)
c.8171G>T (p.Arg2724Ile)
c.6068G>T (p.Arg2023Ile)
n.9018G>T
c.8654G>T (p.Arg2885Ile)
c.7850G>T (p.Arg2617Ile)
c.7655G>T (p.Arg2552Ile)
n.9012G>T
n.9067G>T
5g.37125359C>GCA359499511CPLANE1n.1842G>C
c.8843G>C (p.Arg2948Thr)
n.704G>C
c.8681G>C (p.Arg2894Thr)
c.5855G>C (n.5855G>C)
n.4024G>C
n.342-3575G>C
c.5879G>C (p.Arg1960Thr)
c.8840G>C (p.Arg2947Thr)
c.8732G>C (p.Arg2911Thr)
c.8714G>C (p.Arg2905Thr)
c.5486G>C (p.Arg1829Thr)
c.3416G>C (p.Arg1139Thr)
c.8789G>C (p.Arg2930Thr)
c.8735G>C (p.Arg2912Thr)
c.8525G>C (p.Arg2842Thr)
c.8171G>C (p.Arg2724Thr)
c.6068G>C (p.Arg2023Thr)
n.9018G>C
c.8654G>C (p.Arg2885Thr)
c.7850G>C (p.Arg2617Thr)
c.7655G>C (p.Arg2552Thr)
n.9012G>C
n.9067G>C
 COSMIC COSMIC
5g.37125359C>TCA359499512CPLANE1n.1842G>A
c.8843G>A (p.Arg2948Lys)
n.704G>A
c.8681G>A (p.Arg2894Lys)
c.5855G>A (n.5855G>A)
n.4024G>A
n.342-3575G>A
c.5879G>A (p.Arg1960Lys)
c.8840G>A (p.Arg2947Lys)
c.8732G>A (p.Arg2911Lys)
c.8714G>A (p.Arg2905Lys)
c.5486G>A (p.Arg1829Lys)
c.3416G>A (p.Arg1139Lys)
c.8789G>A (p.Arg2930Lys)
c.8735G>A (p.Arg2912Lys)
c.8525G>A (p.Arg2842Lys)
c.8171G>A (p.Arg2724Lys)
c.6068G>A (p.Arg2023Lys)
n.9018G>A
c.8654G>A (p.Arg2885Lys)
c.7850G>A (p.Arg2617Lys)
c.7655G>A (p.Arg2552Lys)
n.9012G>A
n.9067G>A
 gnomAD v4
5g.37125360T>ACA359499515CPLANE1n.1841A>T
c.8842A>T (p.Arg2948Ter)
n.703A>T
c.8680A>T (p.Arg2894Ter)
c.5854A>T (n.5854A>T)
n.4023A>T
n.342-3576A>T
c.5878A>T (p.Arg1960Ter)
c.8839A>T (p.Arg2947Ter)
c.8731A>T (p.Arg2911Ter)
c.8713A>T (p.Arg2905Ter)
c.5485A>T (p.Arg1829Ter)
c.3415A>T (p.Arg1139Ter)
c.8788A>T (p.Arg2930Ter)
c.8734A>T (p.Arg2912Ter)
c.8524A>T (p.Arg2842Ter)
c.8170A>T (p.Arg2724Ter)
c.6067A>T (p.Arg2023Ter)
n.9017A>T
c.8653A>T (p.Arg2885Ter)
c.7849A>T (p.Arg2617Ter)
c.7654A>T (p.Arg2552Ter)
n.9011A>T
n.9066A>T
5g.37125360T>CCA3237639CPLANE1n.1841A>G
c.8842A>G (p.Arg2948Gly)
n.703A>G
c.8680A>G (p.Arg2894Gly)
c.5854A>G (n.5854A>G)
n.4023A>G
n.342-3576A>G
c.5878A>G (p.Arg1960Gly)
c.8839A>G (p.Arg2947Gly)
c.8731A>G (p.Arg2911Gly)
c.8713A>G (p.Arg2905Gly)
c.5485A>G (p.Arg1829Gly)
c.3415A>G (p.Arg1139Gly)
c.8788A>G (p.Arg2930Gly)
c.8734A>G (p.Arg2912Gly)
c.8524A>G (p.Arg2842Gly)
c.8170A>G (p.Arg2724Gly)
c.6067A>G (p.Arg2023Gly)
n.9017A>G
c.8653A>G (p.Arg2885Gly)
c.7849A>G (p.Arg2617Gly)
c.7654A>G (p.Arg2552Gly)
n.9011A>G
n.9066A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37125360T>GCA3237638CPLANE1n.1841A>C
c.8842A>C (p.Arg2948=)
n.703A>C
c.8680A>C (p.Arg2894=)
c.5854A>C (n.5854A>C)
n.4023A>C
n.342-3576A>C
c.5878A>C (p.Arg1960=)
c.8839A>C (p.Arg2947=)
c.8731A>C (p.Arg2911=)
c.8713A>C (p.Arg2905=)
c.5485A>C (p.Arg1829=)
c.3415A>C (p.Arg1139=)
c.8788A>C (p.Arg2930=)
c.8734A>C (p.Arg2912=)
c.8524A>C (p.Arg2842=)
c.8170A>C (p.Arg2724=)
c.6067A>C (p.Arg2023=)
n.9017A>C
c.8653A>C (p.Arg2885=)
c.7849A>C (p.Arg2617=)
c.7654A>C (p.Arg2552=)
n.9011A>C
n.9066A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37125360T=CA1539667685CPLANE1n.1841A=
c.8842A= (p.Arg2948=)
n.703A=
c.8680A= (p.Arg2894=)
c.5854A= (n.5854A=)
n.4023A=
n.342-3576A=
c.5878A= (p.Arg1960=)
c.8839A= (p.Arg2947=)
c.8731A= (p.Arg2911=)
c.8713A= (p.Arg2905=)
c.5485A= (p.Arg1829=)
c.3415A= (p.Arg1139=)
c.8788A= (p.Arg2930=)
c.8734A= (p.Arg2912=)
c.8524A= (p.Arg2842=)
c.8170A= (p.Arg2724=)
c.6067A= (p.Arg2023=)
n.9017A=
c.8653A= (p.Arg2885=)
c.7849A= (p.Arg2617=)
c.7654A= (p.Arg2552=)
n.9011A=
n.9066A=
5g.37125360_37125361delCA2673580099CPLANE1n.1840_1841del
c.8841_8842del (p.Glu2949AspfsTer19)
n.702_703del
c.8679_8680del (p.Glu2895AspfsTer19)
c.5853_5854del (n.5853_5854del)
n.4022_4023del
n.342-3577_342-3576del
c.5877_5878del (p.Glu1961AspfsTer19)
c.8838_8839del (p.Glu2948AspfsTer19)
c.8730_8731del (p.Glu2912AspfsTer19)
c.8712_8713del (p.Glu2906AspfsTer19)
c.5484_5485del (p.Glu1830AspfsTer19)
c.3414_3415del (p.Glu1140AspfsTer19)
c.8787_8788del (p.Glu2931AspfsTer19)
c.8733_8734del (p.Glu2913AspfsTer19)
c.8523_8524del (p.Glu2843AspfsTer19)
c.8169_8170del (p.Glu2725AspfsTer19)
c.6066_6067del (p.Glu2024AspfsTer19)
n.9016_9017del
c.8652_8653del (p.Glu2886AspfsTer19)
c.7848_7849del (p.Glu2618AspfsTer19)
c.7653_7654del (p.Glu2553AspfsTer19)
n.9010_9011del
n.9065_9066del
 gnomAD v4
5g.37125361T>ACA359499538CPLANE1n.1840A>T
c.8841A>T (p.Arg2947Ser)
n.702A>T
c.8679A>T (p.Arg2893Ser)
c.5853A>T (n.5853A>T)
n.4022A>T
n.342-3577A>T
c.5877A>T (p.Arg1959Ser)
c.8838A>T (p.Arg2946Ser)
c.8730A>T (p.Arg2910Ser)
c.8712A>T (p.Arg2904Ser)
c.5484A>T (p.Arg1828Ser)
c.3414A>T (p.Arg1138Ser)
c.8787A>T (p.Arg2929Ser)
c.8733A>T (p.Arg2911Ser)
c.8523A>T (p.Arg2841Ser)
c.8169A>T (p.Arg2723Ser)
c.6066A>T (p.Arg2022Ser)
n.9016A>T
c.8652A>T (p.Arg2884Ser)
c.7848A>T (p.Arg2616Ser)
c.7653A>T (p.Arg2551Ser)
n.9010A>T
n.9065A>T
 dbSNP gnomAD v2 gnomAD v4
5g.37125361T>CCA443922059CPLANE1n.1840A>G
c.8841A>G (p.Arg2947=)
n.702A>G
c.8679A>G (p.Arg2893=)
c.5853A>G (n.5853A>G)
n.4022A>G
n.342-3577A>G
c.5877A>G (p.Arg1959=)
c.8838A>G (p.Arg2946=)
c.8730A>G (p.Arg2910=)
c.8712A>G (p.Arg2904=)
c.5484A>G (p.Arg1828=)
c.3414A>G (p.Arg1138=)
c.8787A>G (p.Arg2929=)
c.8733A>G (p.Arg2911=)
c.8523A>G (p.Arg2841=)
c.8169A>G (p.Arg2723=)
c.6066A>G (p.Arg2022=)
n.9016A>G
c.8652A>G (p.Arg2884=)
c.7848A>G (p.Arg2616=)
c.7653A>G (p.Arg2551=)
n.9010A>G
n.9065A>G
 dbSNP gnomAD v4
5g.37125361T>GCA359499541CPLANE1n.1840A>C
c.8841A>C (p.Arg2947Ser)
n.702A>C
c.8679A>C (p.Arg2893Ser)
c.5853A>C (n.5853A>C)
n.4022A>C
n.342-3577A>C
c.5877A>C (p.Arg1959Ser)
c.8838A>C (p.Arg2946Ser)
c.8730A>C (p.Arg2910Ser)
c.8712A>C (p.Arg2904Ser)
c.5484A>C (p.Arg1828Ser)
c.3414A>C (p.Arg1138Ser)
c.8787A>C (p.Arg2929Ser)
c.8733A>C (p.Arg2911Ser)
c.8523A>C (p.Arg2841Ser)
c.8169A>C (p.Arg2723Ser)
c.6066A>C (p.Arg2022Ser)
n.9016A>C
c.8652A>C (p.Arg2884Ser)
c.7848A>C (p.Arg2616Ser)
c.7653A>C (p.Arg2551Ser)
n.9010A>C
n.9065A>C
5g.37125361T=CA1539667688CPLANE1n.1840A=
c.8841A= (p.Arg2947=)
n.702A=
c.8679A= (p.Arg2893=)
c.5853A= (n.5853A=)
n.4022A=
n.342-3577A=
c.5877A= (p.Arg1959=)
c.8838A= (p.Arg2946=)
c.8730A= (p.Arg2910=)
c.8712A= (p.Arg2904=)
c.5484A= (p.Arg1828=)
c.3414A= (p.Arg1138=)
c.8787A= (p.Arg2929=)
c.8733A= (p.Arg2911=)
c.8523A= (p.Arg2841=)
c.8169A= (p.Arg2723=)
c.6066A= (p.Arg2022=)
n.9016A=
c.8652A= (p.Arg2884=)
c.7848A= (p.Arg2616=)
c.7653A= (p.Arg2551=)
n.9010A=
n.9065A=
5g.37125362C>ACA359499547CPLANE1n.1839G>T
c.8840G>T (p.Arg2947Ile)
n.701G>T
c.8678G>T (p.Arg2893Ile)
c.5852G>T (n.5852G>T)
n.4021G>T
n.342-3578G>T
c.5876G>T (p.Arg1959Ile)
c.8837G>T (p.Arg2946Ile)
c.8729G>T (p.Arg2910Ile)
c.8711G>T (p.Arg2904Ile)
c.5483G>T (p.Arg1828Ile)
c.3413G>T (p.Arg1138Ile)
c.8786G>T (p.Arg2929Ile)
c.8732G>T (p.Arg2911Ile)
c.8522G>T (p.Arg2841Ile)
c.8168G>T (p.Arg2723Ile)
c.6065G>T (p.Arg2022Ile)
n.9015G>T
c.8651G>T (p.Arg2884Ile)
c.7847G>T (p.Arg2616Ile)
c.7652G>T (p.Arg2551Ile)
n.9009G>T
n.9064G>T
 dbSNP
5g.37125362C=CA1539667691CPLANE1n.1839G=
c.8840G= (p.Arg2947=)
n.701G=
c.8678G= (p.Arg2893=)
c.5852G= (n.5852G=)
n.4021G=
n.342-3578G=
c.5876G= (p.Arg1959=)
c.8837G= (p.Arg2946=)
c.8729G= (p.Arg2910=)
c.8711G= (p.Arg2904=)
c.5483G= (p.Arg1828=)
c.3413G= (p.Arg1138=)
c.8786G= (p.Arg2929=)
c.8732G= (p.Arg2911=)
c.8522G= (p.Arg2841=)
c.8168G= (p.Arg2723=)
c.6065G= (p.Arg2022=)
n.9015G=
c.8651G= (p.Arg2884=)
c.7847G= (p.Arg2616=)
c.7652G= (p.Arg2551=)
n.9009G=
n.9064G=
5g.37125362C>GCA359499555CPLANE1n.1839G>C
c.8840G>C (p.Arg2947Thr)
n.701G>C
c.8678G>C (p.Arg2893Thr)
c.5852G>C (n.5852G>C)
n.4021G>C
n.342-3578G>C
c.5876G>C (p.Arg1959Thr)
c.8837G>C (p.Arg2946Thr)
c.8729G>C (p.Arg2910Thr)
c.8711G>C (p.Arg2904Thr)
c.5483G>C (p.Arg1828Thr)
c.3413G>C (p.Arg1138Thr)
c.8786G>C (p.Arg2929Thr)
c.8732G>C (p.Arg2911Thr)
c.8522G>C (p.Arg2841Thr)
c.8168G>C (p.Arg2723Thr)
c.6065G>C (p.Arg2022Thr)
n.9015G>C
c.8651G>C (p.Arg2884Thr)
c.7847G>C (p.Arg2616Thr)
c.7652G>C (p.Arg2551Thr)
n.9009G>C
n.9064G>C
5g.37125362C>TCA3237640CPLANE1n.1839G>A
c.8840G>A (p.Arg2947Lys)
n.701G>A
c.8678G>A (p.Arg2893Lys)
c.5852G>A (n.5852G>A)
n.4021G>A
n.342-3578G>A
c.5876G>A (p.Arg1959Lys)
c.8837G>A (p.Arg2946Lys)
c.8729G>A (p.Arg2910Lys)
c.8711G>A (p.Arg2904Lys)
c.5483G>A (p.Arg1828Lys)
c.3413G>A (p.Arg1138Lys)
c.8786G>A (p.Arg2929Lys)
c.8732G>A (p.Arg2911Lys)
c.8522G>A (p.Arg2841Lys)
c.8168G>A (p.Arg2723Lys)
c.6065G>A (p.Arg2022Lys)
n.9015G>A
c.8651G>A (p.Arg2884Lys)
c.7847G>A (p.Arg2616Lys)
c.7652G>A (p.Arg2551Lys)
n.9009G>A
n.9064G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37125363T>ACA359499562CPLANE1n.1838A>T
c.8839A>T (p.Arg2947Ter)
n.700A>T
c.8677A>T (p.Arg2893Ter)
c.5851A>T (n.5851A>T)
n.4020A>T
n.342-3579A>T
c.5875A>T (p.Arg1959Ter)
c.8836A>T (p.Arg2946Ter)
c.8728A>T (p.Arg2910Ter)
c.8710A>T (p.Arg2904Ter)
c.5482A>T (p.Arg1828Ter)
c.3412A>T (p.Arg1138Ter)
c.8785A>T (p.Arg2929Ter)
c.8731A>T (p.Arg2911Ter)
c.8521A>T (p.Arg2841Ter)
c.8167A>T (p.Arg2723Ter)
c.6064A>T (p.Arg2022Ter)
n.9014A>T
c.8650A>T (p.Arg2884Ter)
c.7846A>T (p.Arg2616Ter)
c.7651A>T (p.Arg2551Ter)
n.9008A>T
n.9063A>T
5g.37125363T>CCA359499567CPLANE1n.1838A>G
c.8839A>G (p.Arg2947Gly)
n.700A>G
c.8677A>G (p.Arg2893Gly)
c.5851A>G (n.5851A>G)
n.4020A>G
n.342-3579A>G
c.5875A>G (p.Arg1959Gly)
c.8836A>G (p.Arg2946Gly)
c.8728A>G (p.Arg2910Gly)
c.8710A>G (p.Arg2904Gly)
c.5482A>G (p.Arg1828Gly)
c.3412A>G (p.Arg1138Gly)
c.8785A>G (p.Arg2929Gly)
c.8731A>G (p.Arg2911Gly)
c.8521A>G (p.Arg2841Gly)
c.8167A>G (p.Arg2723Gly)
c.6064A>G (p.Arg2022Gly)
n.9014A>G
c.8650A>G (p.Arg2884Gly)
c.7846A>G (p.Arg2616Gly)
c.7651A>G (p.Arg2551Gly)
n.9008A>G
n.9063A>G
 ClinVar
5g.37125363T>GCA443922060CPLANE1n.1838A>C
c.8839A>C (p.Arg2947=)
n.700A>C
c.8677A>C (p.Arg2893=)
c.5851A>C (n.5851A>C)
n.4020A>C
n.342-3579A>C
c.5875A>C (p.Arg1959=)
c.8836A>C (p.Arg2946=)
c.8728A>C (p.Arg2910=)
c.8710A>C (p.Arg2904=)
c.5482A>C (p.Arg1828=)
c.3412A>C (p.Arg1138=)
c.8785A>C (p.Arg2929=)
c.8731A>C (p.Arg2911=)
c.8521A>C (p.Arg2841=)
c.8167A>C (p.Arg2723=)
c.6064A>C (p.Arg2022=)
n.9014A>C
c.8650A>C (p.Arg2884=)
c.7846A>C (p.Arg2616=)
c.7651A>C (p.Arg2551=)
n.9008A>C
n.9063A>C
5g.37125365dupCA1539667695CPLANE1n.1838dup
c.8839dup (p.Arg2947LysfsTer22)
n.700dup
c.8677dup (p.Arg2893LysfsTer22)
c.5851dup (n.5851dup)
n.4020dup
n.342-3579dup
c.5875dup (p.Arg1959LysfsTer22)
c.8836dup (p.Arg2946LysfsTer22)
c.8728dup (p.Arg2910LysfsTer22)
c.8710dup (p.Arg2904LysfsTer22)
c.5482dup (p.Arg1828LysfsTer22)
c.3412dup (p.Arg1138LysfsTer22)
c.8785dup (p.Arg2929LysfsTer22)
c.8731dup (p.Arg2911LysfsTer22)
c.8521dup (p.Arg2841LysfsTer22)
c.8167dup (p.Arg2723LysfsTer22)
c.6064dup (p.Arg2022LysfsTer22)
n.9014dup
c.8650dup (p.Arg2884LysfsTer22)
c.7846dup (p.Arg2616LysfsTer22)
c.7651dup (p.Arg2551LysfsTer22)
n.9008dup
n.9063dup
 dbSNP gnomAD v4
5g.37125364T>ACA359499570CPLANE1n.1837A>T
c.8838A>T (p.Glu2946Asp)
n.699A>T
c.8676A>T (p.Glu2892Asp)
c.5850A>T (n.5850A>T)
n.4019A>T
n.342-3580A>T
c.5874A>T (p.Glu1958Asp)
c.8835A>T (p.Glu2945Asp)
c.8727A>T (p.Glu2909Asp)
c.8709A>T (p.Glu2903Asp)
c.5481A>T (p.Glu1827Asp)
c.3411A>T (p.Glu1137Asp)
c.8784A>T (p.Glu2928Asp)
c.8730A>T (p.Glu2910Asp)
c.8520A>T (p.Glu2840Asp)
c.8166A>T (p.Glu2722Asp)
c.6063A>T (p.Glu2021Asp)
n.9013A>T
c.8649A>T (p.Glu2883Asp)
c.7845A>T (p.Glu2615Asp)
c.7650A>T (p.Glu2550Asp)
n.9007A>T
n.9062A>T
5g.37125364T>CCA3237641CPLANE1n.1837A>G
c.8838A>G (p.Glu2946=)
n.699A>G
c.8676A>G (p.Glu2892=)
c.5850A>G (n.5850A>G)
n.4019A>G
n.342-3580A>G
c.5874A>G (p.Glu1958=)
c.8835A>G (p.Glu2945=)
c.8727A>G (p.Glu2909=)
c.8709A>G (p.Glu2903=)
c.5481A>G (p.Glu1827=)
c.3411A>G (p.Glu1137=)
c.8784A>G (p.Glu2928=)
c.8730A>G (p.Glu2910=)
c.8520A>G (p.Glu2840=)
c.8166A>G (p.Glu2722=)
c.6063A>G (p.Glu2021=)
n.9013A>G
c.8649A>G (p.Glu2883=)
c.7845A>G (p.Glu2615=)
c.7650A>G (p.Glu2550=)
n.9007A>G
n.9062A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37125364T>GCA359499576CPLANE1n.1837A>C
c.8838A>C (p.Glu2946Asp)
n.699A>C
c.8676A>C (p.Glu2892Asp)
c.5850A>C (n.5850A>C)
n.4019A>C
n.342-3580A>C
c.5874A>C (p.Glu1958Asp)
c.8835A>C (p.Glu2945Asp)
c.8727A>C (p.Glu2909Asp)
c.8709A>C (p.Glu2903Asp)
c.5481A>C (p.Glu1827Asp)
c.3411A>C (p.Glu1137Asp)
c.8784A>C (p.Glu2928Asp)
c.8730A>C (p.Glu2910Asp)
c.8520A>C (p.Glu2840Asp)
c.8166A>C (p.Glu2722Asp)
c.6063A>C (p.Glu2021Asp)
n.9013A>C
c.8649A>C (p.Glu2883Asp)
c.7845A>C (p.Glu2615Asp)
c.7650A>C (p.Glu2550Asp)
n.9007A>C
n.9062A>C
5g.37125364T=CA1539667697CPLANE1n.1837A=
c.8838A= (p.Glu2946=)
n.699A=
c.8676A= (p.Glu2892=)
c.5850A= (n.5850A=)
n.4019A=
n.342-3580A=
c.5874A= (p.Glu1958=)
c.8835A= (p.Glu2945=)
c.8727A= (p.Glu2909=)
c.8709A= (p.Glu2903=)
c.5481A= (p.Glu1827=)
c.3411A= (p.Glu1137=)
c.8784A= (p.Glu2928=)
c.8730A= (p.Glu2910=)
c.8520A= (p.Glu2840=)
c.8166A= (p.Glu2722=)
c.6063A= (p.Glu2021=)
n.9013A=
c.8649A= (p.Glu2883=)
c.7845A= (p.Glu2615=)
c.7650A= (p.Glu2550=)
n.9007A=
n.9062A=
5g.37125365T>ACA359499579CPLANE1n.1836A>T
c.8837A>T (p.Glu2946Val)
n.698A>T
c.8675A>T (p.Glu2892Val)
c.5849A>T (n.5849A>T)
n.4018A>T
n.342-3581A>T
c.5873A>T (p.Glu1958Val)
c.8834A>T (p.Glu2945Val)
c.8726A>T (p.Glu2909Val)
c.8708A>T (p.Glu2903Val)
c.5480A>T (p.Glu1827Val)
c.3410A>T (p.Glu1137Val)
c.8783A>T (p.Glu2928Val)
c.8729A>T (p.Glu2910Val)
c.8519A>T (p.Glu2840Val)
c.8165A>T (p.Glu2722Val)
c.6062A>T (p.Glu2021Val)
n.9012A>T
c.8648A>T (p.Glu2883Val)
c.7844A>T (p.Glu2615Val)
c.7649A>T (p.Glu2550Val)
n.9006A>T
n.9061A>T
5g.37125365T>CCA359499600CPLANE1n.1836A>G
c.8837A>G (p.Glu2946Gly)
n.698A>G
c.8675A>G (p.Glu2892Gly)
c.5849A>G (n.5849A>G)
n.4018A>G
n.342-3581A>G
c.5873A>G (p.Glu1958Gly)
c.8834A>G (p.Glu2945Gly)
c.8726A>G (p.Glu2909Gly)
c.8708A>G (p.Glu2903Gly)
c.5480A>G (p.Glu1827Gly)
c.3410A>G (p.Glu1137Gly)
c.8783A>G (p.Glu2928Gly)
c.8729A>G (p.Glu2910Gly)
c.8519A>G (p.Glu2840Gly)
c.8165A>G (p.Glu2722Gly)
c.6062A>G (p.Glu2021Gly)
n.9012A>G
c.8648A>G (p.Glu2883Gly)
c.7844A>G (p.Glu2615Gly)
c.7649A>G (p.Glu2550Gly)
n.9006A>G
n.9061A>G
 dbSNP gnomAD v3 gnomAD v4
5g.37125365T>GCA359499603CPLANE1n.1836A>C
c.8837A>C (p.Glu2946Ala)
n.698A>C
c.8675A>C (p.Glu2892Ala)
c.5849A>C (n.5849A>C)
n.4018A>C
n.342-3581A>C
c.5873A>C (p.Glu1958Ala)
c.8834A>C (p.Glu2945Ala)
c.8726A>C (p.Glu2909Ala)
c.8708A>C (p.Glu2903Ala)
c.5480A>C (p.Glu1827Ala)
c.3410A>C (p.Glu1137Ala)
c.8783A>C (p.Glu2928Ala)
c.8729A>C (p.Glu2910Ala)
c.8519A>C (p.Glu2840Ala)
c.8165A>C (p.Glu2722Ala)
c.6062A>C (p.Glu2021Ala)
n.9012A>C
c.8648A>C (p.Glu2883Ala)
c.7844A>C (p.Glu2615Ala)
c.7649A>C (p.Glu2550Ala)
n.9006A>C
n.9061A>C
5g.37125365T=CA1539667700CPLANE1n.1836A=
c.8837A= (p.Glu2946=)
n.698A=
c.8675A= (p.Glu2892=)
c.5849A= (n.5849A=)
n.4018A=
n.342-3581A=
c.5873A= (p.Glu1958=)
c.8834A= (p.Glu2945=)
c.8726A= (p.Glu2909=)
c.8708A= (p.Glu2903=)
c.5480A= (p.Glu1827=)
c.3410A= (p.Glu1137=)
c.8783A= (p.Glu2928=)
c.8729A= (p.Glu2910=)
c.8519A= (p.Glu2840=)
c.8165A= (p.Glu2722=)
c.6062A= (p.Glu2021=)
n.9012A=
c.8648A= (p.Glu2883=)
c.7844A= (p.Glu2615=)
c.7649A= (p.Glu2550=)
n.9006A=
n.9061A=
5g.37125366C>ACA359499610CPLANE1n.1835G>T
c.8836G>T (p.Glu2946Ter)
n.697G>T
c.8674G>T (p.Glu2892Ter)
c.5848G>T (n.5848G>T)
n.4017G>T
n.342-3582G>T
c.5872G>T (p.Glu1958Ter)
c.8833G>T (p.Glu2945Ter)
c.8725G>T (p.Glu2909Ter)
c.8707G>T (p.Glu2903Ter)
c.5479G>T (p.Glu1827Ter)
c.3409G>T (p.Glu1137Ter)
c.8782G>T (p.Glu2928Ter)
c.8728G>T (p.Glu2910Ter)
c.8518G>T (p.Glu2840Ter)
c.8164G>T (p.Glu2722Ter)
c.6061G>T (p.Glu2021Ter)
n.9011G>T
c.8647G>T (p.Glu2883Ter)
c.7843G>T (p.Glu2615Ter)
c.7648G>T (p.Glu2550Ter)
n.9005G>T
n.9060G>T
5g.37125366C=CA1539667703CPLANE1n.1835G=
c.8836G= (p.Glu2946=)
n.697G=
c.8674G= (p.Glu2892=)
c.5848G= (n.5848G=)
n.4017G=
n.342-3582G=
c.5872G= (p.Glu1958=)
c.8833G= (p.Glu2945=)
c.8725G= (p.Glu2909=)
c.8707G= (p.Glu2903=)
c.5479G= (p.Glu1827=)
c.3409G= (p.Glu1137=)
c.8782G= (p.Glu2928=)
c.8728G= (p.Glu2910=)
c.8518G= (p.Glu2840=)
c.8164G= (p.Glu2722=)
c.6061G= (p.Glu2021=)
n.9011G=
c.8647G= (p.Glu2883=)
c.7843G= (p.Glu2615=)
c.7648G= (p.Glu2550=)
n.9005G=
n.9060G=
5g.37125366C>GCA359499614CPLANE1n.1835G>C
c.8836G>C (p.Glu2946Gln)
n.697G>C
c.8674G>C (p.Glu2892Gln)
c.5848G>C (n.5848G>C)
n.4017G>C
n.342-3582G>C
c.5872G>C (p.Glu1958Gln)
c.8833G>C (p.Glu2945Gln)
c.8725G>C (p.Glu2909Gln)
c.8707G>C (p.Glu2903Gln)
c.5479G>C (p.Glu1827Gln)
c.3409G>C (p.Glu1137Gln)
c.8782G>C (p.Glu2928Gln)
c.8728G>C (p.Glu2910Gln)
c.8518G>C (p.Glu2840Gln)
c.8164G>C (p.Glu2722Gln)
c.6061G>C (p.Glu2021Gln)
n.9011G>C
c.8647G>C (p.Glu2883Gln)
c.7843G>C (p.Glu2615Gln)
c.7648G>C (p.Glu2550Gln)
n.9005G>C
n.9060G>C
5g.37125366C>TCA117059254CPLANE1n.1835G>A
c.8836G>A (p.Glu2946Lys)
n.697G>A
c.8674G>A (p.Glu2892Lys)
c.5848G>A (n.5848G>A)
n.4017G>A
n.342-3582G>A
c.5872G>A (p.Glu1958Lys)
c.8833G>A (p.Glu2945Lys)
c.8725G>A (p.Glu2909Lys)
c.8707G>A (p.Glu2903Lys)
c.5479G>A (p.Glu1827Lys)
c.3409G>A (p.Glu1137Lys)
c.8782G>A (p.Glu2928Lys)
c.8728G>A (p.Glu2910Lys)
c.8518G>A (p.Glu2840Lys)
c.8164G>A (p.Glu2722Lys)
c.6061G>A (p.Glu2021Lys)
n.9011G>A
c.8647G>A (p.Glu2883Lys)
c.7843G>A (p.Glu2615Lys)
c.7648G>A (p.Glu2550Lys)
n.9005G>A
n.9060G>A
 dbSNP
5g.37125367C>ACA359499619CPLANE1n.1834G>T
c.8835G>T (p.Lys2945Asn)
n.696G>T
c.8673G>T (p.Lys2891Asn)
c.5847G>T (n.5847G>T)
n.4016G>T
n.342-3583G>T
c.5871G>T (p.Lys1957Asn)
c.8832G>T (p.Lys2944Asn)
c.8724G>T (p.Lys2908Asn)
c.8706G>T (p.Lys2902Asn)
c.5478G>T (p.Lys1826Asn)
c.3408G>T (p.Lys1136Asn)
c.8781G>T (p.Lys2927Asn)
c.8727G>T (p.Lys2909Asn)
c.8517G>T (p.Lys2839Asn)
c.8163G>T (p.Lys2721Asn)
c.6060G>T (p.Lys2020Asn)
n.9010G>T
c.8646G>T (p.Lys2882Asn)
c.7842G>T (p.Lys2614Asn)
c.7647G>T (p.Lys2549Asn)
n.9004G>T
n.9059G>T
5g.37125367C>GCA359499622CPLANE1n.1834G>C
c.8835G>C (p.Lys2945Asn)
n.696G>C
c.8673G>C (p.Lys2891Asn)
c.5847G>C (n.5847G>C)
n.4016G>C
n.342-3583G>C
c.5871G>C (p.Lys1957Asn)
c.8832G>C (p.Lys2944Asn)
c.8724G>C (p.Lys2908Asn)
c.8706G>C (p.Lys2902Asn)
c.5478G>C (p.Lys1826Asn)
c.3408G>C (p.Lys1136Asn)
c.8781G>C (p.Lys2927Asn)
c.8727G>C (p.Lys2909Asn)
c.8517G>C (p.Lys2839Asn)
c.8163G>C (p.Lys2721Asn)
c.6060G>C (p.Lys2020Asn)
n.9010G>C
c.8646G>C (p.Lys2882Asn)
c.7842G>C (p.Lys2614Asn)
c.7647G>C (p.Lys2549Asn)
n.9004G>C
n.9059G>C
5g.37125367C>TCA443922063CPLANE1n.1834G>A
c.8835G>A (p.Lys2945=)
n.696G>A
c.8673G>A (p.Lys2891=)
c.5847G>A (n.5847G>A)
n.4016G>A
n.342-3583G>A
c.5871G>A (p.Lys1957=)
c.8832G>A (p.Lys2944=)
c.8724G>A (p.Lys2908=)
c.8706G>A (p.Lys2902=)
c.5478G>A (p.Lys1826=)
c.3408G>A (p.Lys1136=)
c.8781G>A (p.Lys2927=)
c.8727G>A (p.Lys2909=)
c.8517G>A (p.Lys2839=)
c.8163G>A (p.Lys2721=)
c.6060G>A (p.Lys2020=)
n.9010G>A
c.8646G>A (p.Lys2882=)
c.7842G>A (p.Lys2614=)
c.7647G>A (p.Lys2549=)
n.9004G>A
n.9059G>A
5g.37125368T>ACA359499626CPLANE1n.1833A>T
c.8834A>T (p.Lys2945Met)
n.695A>T
c.8672A>T (p.Lys2891Met)
c.5846A>T (n.5846A>T)
n.4015A>T
n.342-3584A>T
c.5870A>T (p.Lys1957Met)
c.8831A>T (p.Lys2944Met)
c.8723A>T (p.Lys2908Met)
c.8705A>T (p.Lys2902Met)
c.5477A>T (p.Lys1826Met)
c.3407A>T (p.Lys1136Met)
c.8780A>T (p.Lys2927Met)
c.8726A>T (p.Lys2909Met)
c.8516A>T (p.Lys2839Met)
c.8162A>T (p.Lys2721Met)
c.6059A>T (p.Lys2020Met)
n.9009A>T
c.8645A>T (p.Lys2882Met)
c.7841A>T (p.Lys2614Met)
c.7646A>T (p.Lys2549Met)
n.9003A>T
n.9058A>T
5g.37125368T>CCA3237642CPLANE1n.1833A>G
c.8834A>G (p.Lys2945Arg)
n.695A>G
c.8672A>G (p.Lys2891Arg)
c.5846A>G (n.5846A>G)
n.4015A>G
n.342-3584A>G
c.5870A>G (p.Lys1957Arg)
c.8831A>G (p.Lys2944Arg)
c.8723A>G (p.Lys2908Arg)
c.8705A>G (p.Lys2902Arg)
c.5477A>G (p.Lys1826Arg)
c.3407A>G (p.Lys1136Arg)
c.8780A>G (p.Lys2927Arg)
c.8726A>G (p.Lys2909Arg)
c.8516A>G (p.Lys2839Arg)
c.8162A>G (p.Lys2721Arg)
c.6059A>G (p.Lys2020Arg)
n.9009A>G
c.8645A>G (p.Lys2882Arg)
c.7841A>G (p.Lys2614Arg)
c.7646A>G (p.Lys2549Arg)
n.9003A>G
n.9058A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37125368T>GCA359499632CPLANE1n.1833A>C
c.8834A>C (p.Lys2945Thr)
n.695A>C
c.8672A>C (p.Lys2891Thr)
c.5846A>C (n.5846A>C)
n.4015A>C
n.342-3584A>C
c.5870A>C (p.Lys1957Thr)
c.8831A>C (p.Lys2944Thr)
c.8723A>C (p.Lys2908Thr)
c.8705A>C (p.Lys2902Thr)
c.5477A>C (p.Lys1826Thr)
c.3407A>C (p.Lys1136Thr)
c.8780A>C (p.Lys2927Thr)
c.8726A>C (p.Lys2909Thr)
c.8516A>C (p.Lys2839Thr)
c.8162A>C (p.Lys2721Thr)
c.6059A>C (p.Lys2020Thr)
n.9009A>C
c.8645A>C (p.Lys2882Thr)
c.7841A>C (p.Lys2614Thr)
c.7646A>C (p.Lys2549Thr)
n.9003A>C
n.9058A>C
 dbSNP gnomAD v4
5g.37125368T=CA1539667709CPLANE1n.1833A=
c.8834A= (p.Lys2945=)
n.695A=
c.8672A= (p.Lys2891=)
c.5846A= (n.5846A=)
n.4015A=
n.342-3584A=
c.5870A= (p.Lys1957=)
c.8831A= (p.Lys2944=)
c.8723A= (p.Lys2908=)
c.8705A= (p.Lys2902=)
c.5477A= (p.Lys1826=)
c.3407A= (p.Lys1136=)
c.8780A= (p.Lys2927=)
c.8726A= (p.Lys2909=)
c.8516A= (p.Lys2839=)
c.8162A= (p.Lys2721=)
c.6059A= (p.Lys2020=)
n.9009A=
c.8645A= (p.Lys2882=)
c.7841A= (p.Lys2614=)
c.7646A= (p.Lys2549=)
n.9003A=
n.9058A=
5g.37125369T>ACA359499647CPLANE1n.1832A>T
c.8833A>T (p.Lys2945Ter)
n.694A>T
c.8671A>T (p.Lys2891Ter)
c.5845A>T (n.5845A>T)
n.4014A>T
n.342-3585A>T
c.5869A>T (p.Lys1957Ter)
c.8830A>T (p.Lys2944Ter)
c.8722A>T (p.Lys2908Ter)
c.8704A>T (p.Lys2902Ter)
c.5476A>T (p.Lys1826Ter)
c.3406A>T (p.Lys1136Ter)
c.8779A>T (p.Lys2927Ter)
c.8725A>T (p.Lys2909Ter)
c.8515A>T (p.Lys2839Ter)
c.8161A>T (p.Lys2721Ter)
c.6058A>T (p.Lys2020Ter)
n.9008A>T
c.8644A>T (p.Lys2882Ter)
c.7840A>T (p.Lys2614Ter)
c.7645A>T (p.Lys2549Ter)
n.9002A>T
n.9057A>T
5g.37125369T>CCA359499662CPLANE1n.1832A>G
c.8833A>G (p.Lys2945Glu)
n.694A>G
c.8671A>G (p.Lys2891Glu)
c.5845A>G (n.5845A>G)
n.4014A>G
n.342-3585A>G
c.5869A>G (p.Lys1957Glu)
c.8830A>G (p.Lys2944Glu)
c.8722A>G (p.Lys2908Glu)
c.8704A>G (p.Lys2902Glu)
c.5476A>G (p.Lys1826Glu)
c.3406A>G (p.Lys1136Glu)
c.8779A>G (p.Lys2927Glu)
c.8725A>G (p.Lys2909Glu)
c.8515A>G (p.Lys2839Glu)
c.8161A>G (p.Lys2721Glu)
c.6058A>G (p.Lys2020Glu)
n.9008A>G
c.8644A>G (p.Lys2882Glu)
c.7840A>G (p.Lys2614Glu)
c.7645A>G (p.Lys2549Glu)
n.9002A>G
n.9057A>G
5g.37125369T>GCA359499666CPLANE1n.1832A>C
c.8833A>C (p.Lys2945Gln)
n.694A>C
c.8671A>C (p.Lys2891Gln)
c.5845A>C (n.5845A>C)
n.4014A>C
n.342-3585A>C
c.5869A>C (p.Lys1957Gln)
c.8830A>C (p.Lys2944Gln)
c.8722A>C (p.Lys2908Gln)
c.8704A>C (p.Lys2902Gln)
c.5476A>C (p.Lys1826Gln)
c.3406A>C (p.Lys1136Gln)
c.8779A>C (p.Lys2927Gln)
c.8725A>C (p.Lys2909Gln)
c.8515A>C (p.Lys2839Gln)
c.8161A>C (p.Lys2721Gln)
c.6058A>C (p.Lys2020Gln)
n.9008A>C
c.8644A>C (p.Lys2882Gln)
c.7840A>C (p.Lys2614Gln)
c.7645A>C (p.Lys2549Gln)
n.9002A>C
n.9057A>C
5g.37125370G>ACA443922065CPLANE1n.1831C>T
c.8832C>T (p.Asp2944=)
n.693C>T
c.8670C>T (p.Asp2890=)
c.5844C>T (n.5844C>T)
n.4013C>T
n.342-3586C>T
c.5868C>T (p.Asp1956=)
c.8829C>T (p.Asp2943=)
c.8721C>T (p.Asp2907=)
c.8703C>T (p.Asp2901=)
c.5475C>T (p.Asp1825=)
c.3405C>T (p.Asp1135=)
c.8778C>T (p.Asp2926=)
c.8724C>T (p.Asp2908=)
c.8514C>T (p.Asp2838=)
c.8160C>T (p.Asp2720=)
c.6057C>T (p.Asp2019=)
n.9007C>T
c.8643C>T (p.Asp2881=)
c.7839C>T (p.Asp2613=)
c.7644C>T (p.Asp2548=)
n.9001C>T
n.9056C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.37125370G>CCA359499672CPLANE1n.1831C>G
c.8832C>G (p.Asp2944Glu)
n.693C>G
c.8670C>G (p.Asp2890Glu)
c.5844C>G (n.5844C>G)
n.4013C>G
n.342-3586C>G
c.5868C>G (p.Asp1956Glu)
c.8829C>G (p.Asp2943Glu)
c.8721C>G (p.Asp2907Glu)
c.8703C>G (p.Asp2901Glu)
c.5475C>G (p.Asp1825Glu)
c.3405C>G (p.Asp1135Glu)
c.8778C>G (p.Asp2926Glu)
c.8724C>G (p.Asp2908Glu)
c.8514C>G (p.Asp2838Glu)
c.8160C>G (p.Asp2720Glu)
c.6057C>G (p.Asp2019Glu)
n.9007C>G
c.8643C>G (p.Asp2881Glu)
c.7839C>G (p.Asp2613Glu)
c.7644C>G (p.Asp2548Glu)
n.9001C>G
n.9056C>G
5g.37125370G=CA1539667711CPLANE1n.1831C=
c.8832C= (p.Asp2944=)
n.693C=
c.8670C= (p.Asp2890=)
c.5844C= (n.5844C=)
n.4013C=
n.342-3586C=
c.5868C= (p.Asp1956=)
c.8829C= (p.Asp2943=)
c.8721C= (p.Asp2907=)
c.8703C= (p.Asp2901=)
c.5475C= (p.Asp1825=)
c.3405C= (p.Asp1135=)
c.8778C= (p.Asp2926=)
c.8724C= (p.Asp2908=)
c.8514C= (p.Asp2838=)
c.8160C= (p.Asp2720=)
c.6057C= (p.Asp2019=)
n.9007C=
c.8643C= (p.Asp2881=)
c.7839C= (p.Asp2613=)
c.7644C= (p.Asp2548=)
n.9001C=
n.9056C=
5g.37125370G>TCA359499674CPLANE1n.1831C>A
c.8832C>A (p.Asp2944Glu)
n.693C>A
c.8670C>A (p.Asp2890Glu)
c.5844C>A (n.5844C>A)
n.4013C>A
n.342-3586C>A
c.5868C>A (p.Asp1956Glu)
c.8829C>A (p.Asp2943Glu)
c.8721C>A (p.Asp2907Glu)
c.8703C>A (p.Asp2901Glu)
c.5475C>A (p.Asp1825Glu)
c.3405C>A (p.Asp1135Glu)
c.8778C>A (p.Asp2926Glu)
c.8724C>A (p.Asp2908Glu)
c.8514C>A (p.Asp2838Glu)
c.8160C>A (p.Asp2720Glu)
c.6057C>A (p.Asp2019Glu)
n.9007C>A
c.8643C>A (p.Asp2881Glu)
c.7839C>A (p.Asp2613Glu)
c.7644C>A (p.Asp2548Glu)
n.9001C>A
n.9056C>A
5g.37125371T>ACA359499681CPLANE1n.1830A>T
c.8831A>T (p.Asp2944Val)
n.692A>T
c.8669A>T (p.Asp2890Val)
c.5843A>T (n.5843A>T)
n.4012A>T
n.342-3587A>T
c.5867A>T (p.Asp1956Val)
c.8828A>T (p.Asp2943Val)
c.8720A>T (p.Asp2907Val)
c.8702A>T (p.Asp2901Val)
c.5474A>T (p.Asp1825Val)
c.3404A>T (p.Asp1135Val)
c.8777A>T (p.Asp2926Val)
c.8723A>T (p.Asp2908Val)
c.8513A>T (p.Asp2838Val)
c.8159A>T (p.Asp2720Val)
c.6056A>T (p.Asp2019Val)
n.9006A>T
c.8642A>T (p.Asp2881Val)
c.7838A>T (p.Asp2613Val)
c.7643A>T (p.Asp2548Val)
n.9000A>T
n.9055A>T
5g.37125371T>CCA359499685CPLANE1n.1830A>G
c.8831A>G (p.Asp2944Gly)
n.692A>G
c.8669A>G (p.Asp2890Gly)
c.5843A>G (n.5843A>G)
n.4012A>G
n.342-3587A>G
c.5867A>G (p.Asp1956Gly)
c.8828A>G (p.Asp2943Gly)
c.8720A>G (p.Asp2907Gly)
c.8702A>G (p.Asp2901Gly)
c.5474A>G (p.Asp1825Gly)
c.3404A>G (p.Asp1135Gly)
c.8777A>G (p.Asp2926Gly)
c.8723A>G (p.Asp2908Gly)
c.8513A>G (p.Asp2838Gly)
c.8159A>G (p.Asp2720Gly)
c.6056A>G (p.Asp2019Gly)
n.9006A>G
c.8642A>G (p.Asp2881Gly)
c.7838A>G (p.Asp2613Gly)
c.7643A>G (p.Asp2548Gly)
n.9000A>G
n.9055A>G
5g.37125371T>GCA359499689CPLANE1n.1830A>C
c.8831A>C (p.Asp2944Ala)
n.692A>C
c.8669A>C (p.Asp2890Ala)
c.5843A>C (n.5843A>C)
n.4012A>C
n.342-3587A>C
c.5867A>C (p.Asp1956Ala)
c.8828A>C (p.Asp2943Ala)
c.8720A>C (p.Asp2907Ala)
c.8702A>C (p.Asp2901Ala)
c.5474A>C (p.Asp1825Ala)
c.3404A>C (p.Asp1135Ala)
c.8777A>C (p.Asp2926Ala)
c.8723A>C (p.Asp2908Ala)
c.8513A>C (p.Asp2838Ala)
c.8159A>C (p.Asp2720Ala)
c.6056A>C (p.Asp2019Ala)
n.9006A>C
c.8642A>C (p.Asp2881Ala)
c.7838A>C (p.Asp2613Ala)
c.7643A>C (p.Asp2548Ala)
n.9000A>C
n.9055A>C
5g.37125372C>ACA359499696CPLANE1n.1829G>T
c.8830G>T (p.Asp2944Tyr)
n.691G>T
c.8668G>T (p.Asp2890Tyr)
c.5842G>T (n.5842G>T)
n.4011G>T
n.342-3588G>T
c.5866G>T (p.Asp1956Tyr)
c.8827G>T (p.Asp2943Tyr)
c.8719G>T (p.Asp2907Tyr)
c.8701G>T (p.Asp2901Tyr)
c.5473G>T (p.Asp1825Tyr)
c.3403G>T (p.Asp1135Tyr)
c.8776G>T (p.Asp2926Tyr)
c.8722G>T (p.Asp2908Tyr)
c.8512G>T (p.Asp2838Tyr)
c.8158G>T (p.Asp2720Tyr)
c.6055G>T (p.Asp2019Tyr)
n.9005G>T
c.8641G>T (p.Asp2881Tyr)
c.7837G>T (p.Asp2613Tyr)
c.7642G>T (p.Asp2548Tyr)
n.8999G>T
n.9054G>T
 dbSNP gnomAD v4
5g.37125372C=CA1539667718CPLANE1n.1829G=
c.8830G= (p.Asp2944=)
n.691G=
c.8668G= (p.Asp2890=)
c.5842G= (n.5842G=)
n.4011G=
n.342-3588G=
c.5866G= (p.Asp1956=)
c.8827G= (p.Asp2943=)
c.8719G= (p.Asp2907=)
c.8701G= (p.Asp2901=)
c.5473G= (p.Asp1825=)
c.3403G= (p.Asp1135=)
c.8776G= (p.Asp2926=)
c.8722G= (p.Asp2908=)
c.8512G= (p.Asp2838=)
c.8158G= (p.Asp2720=)
c.6055G= (p.Asp2019=)
n.9005G=
c.8641G= (p.Asp2881=)
c.7837G= (p.Asp2613=)
c.7642G= (p.Asp2548=)
n.8999G=
n.9054G=
5g.37125372C>GCA3237643CPLANE1n.1829G>C
c.8830G>C (p.Asp2944His)
n.691G>C
c.8668G>C (p.Asp2890His)
c.5842G>C (n.5842G>C)
n.4011G>C
n.342-3588G>C
c.5866G>C (p.Asp1956His)
c.8827G>C (p.Asp2943His)
c.8719G>C (p.Asp2907His)
c.8701G>C (p.Asp2901His)
c.5473G>C (p.Asp1825His)
c.3403G>C (p.Asp1135His)
c.8776G>C (p.Asp2926His)
c.8722G>C (p.Asp2908His)
c.8512G>C (p.Asp2838His)
c.8158G>C (p.Asp2720His)
c.6055G>C (p.Asp2019His)
n.9005G>C
c.8641G>C (p.Asp2881His)
c.7837G>C (p.Asp2613His)
c.7642G>C (p.Asp2548His)
n.8999G>C
n.9054G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37125372C>TCA359499692CPLANE1n.1829G>A
c.8830G>A (p.Asp2944Asn)
n.691G>A
c.8668G>A (p.Asp2890Asn)
c.5842G>A (n.5842G>A)
n.4011G>A
n.342-3588G>A
c.5866G>A (p.Asp1956Asn)
c.8827G>A (p.Asp2943Asn)
c.8719G>A (p.Asp2907Asn)
c.8701G>A (p.Asp2901Asn)
c.5473G>A (p.Asp1825Asn)
c.3403G>A (p.Asp1135Asn)
c.8776G>A (p.Asp2926Asn)
c.8722G>A (p.Asp2908Asn)
c.8512G>A (p.Asp2838Asn)
c.8158G>A (p.Asp2720Asn)
c.6055G>A (p.Asp2019Asn)
n.9005G>A
c.8641G>A (p.Asp2881Asn)
c.7837G>A (p.Asp2613Asn)
c.7642G>A (p.Asp2548Asn)
n.8999G>A
n.9054G>A
5g.37125373A>CCA443922066CPLANE1n.1828T>G
c.8829T>G (p.Thr2943=)
n.690T>G
c.8667T>G (p.Thr2889=)
c.5841T>G (n.5841T>G)
n.4010T>G
n.342-3589T>G
c.5865T>G (p.Thr1955=)
c.8826T>G (p.Thr2942=)
c.8718T>G (p.Thr2906=)
c.8700T>G (p.Thr2900=)
c.5472T>G (p.Thr1824=)
c.3402T>G (p.Thr1134=)
c.8775T>G (p.Thr2925=)
c.8721T>G (p.Thr2907=)
c.8511T>G (p.Thr2837=)
c.8157T>G (p.Thr2719=)
c.6054T>G (p.Thr2018=)
n.9004T>G
c.8640T>G (p.Thr2880=)
c.7836T>G (p.Thr2612=)
c.7641T>G (p.Thr2547=)
n.8998T>G
n.9053T>G
5g.37125373A>GCA443922067CPLANE1n.1828T>C
c.8829T>C (p.Thr2943=)
n.690T>C
c.8667T>C (p.Thr2889=)
c.5841T>C (n.5841T>C)
n.4010T>C
n.342-3589T>C
c.5865T>C (p.Thr1955=)
c.8826T>C (p.Thr2942=)
c.8718T>C (p.Thr2906=)
c.8700T>C (p.Thr2900=)
c.5472T>C (p.Thr1824=)
c.3402T>C (p.Thr1134=)
c.8775T>C (p.Thr2925=)
c.8721T>C (p.Thr2907=)
c.8511T>C (p.Thr2837=)
c.8157T>C (p.Thr2719=)
c.6054T>C (p.Thr2018=)
n.9004T>C
c.8640T>C (p.Thr2880=)
c.7836T>C (p.Thr2612=)
c.7641T>C (p.Thr2547=)
n.8998T>C
n.9053T>C
5g.37125373A>TCA443922069CPLANE1n.1828T>A
c.8829T>A (p.Thr2943=)
n.690T>A
c.8667T>A (p.Thr2889=)
c.5841T>A (n.5841T>A)
n.4010T>A
n.342-3589T>A
c.5865T>A (p.Thr1955=)
c.8826T>A (p.Thr2942=)
c.8718T>A (p.Thr2906=)
c.8700T>A (p.Thr2900=)
c.5472T>A (p.Thr1824=)
c.3402T>A (p.Thr1134=)
c.8775T>A (p.Thr2925=)
c.8721T>A (p.Thr2907=)
c.8511T>A (p.Thr2837=)
c.8157T>A (p.Thr2719=)
c.6054T>A (p.Thr2018=)
n.9004T>A
c.8640T>A (p.Thr2880=)
c.7836T>A (p.Thr2612=)
c.7641T>A (p.Thr2547=)
n.8998T>A
n.9053T>A
5g.37125374G>ACA3237644CPLANE1n.1827C>T
c.8828C>T (p.Thr2943Ile)
n.689C>T
c.8666C>T (p.Thr2889Ile)
c.5840C>T (n.5840C>T)
n.4009C>T
n.342-3590C>T
c.5864C>T (p.Thr1955Ile)
c.8825C>T (p.Thr2942Ile)
c.8717C>T (p.Thr2906Ile)
c.8699C>T (p.Thr2900Ile)
c.5471C>T (p.Thr1824Ile)
c.3401C>T (p.Thr1134Ile)
c.8774C>T (p.Thr2925Ile)
c.8720C>T (p.Thr2907Ile)
c.8510C>T (p.Thr2837Ile)
c.8156C>T (p.Thr2719Ile)
c.6053C>T (p.Thr2018Ile)
n.9003C>T
c.8639C>T (p.Thr2880Ile)
c.7835C>T (p.Thr2612Ile)
c.7640C>T (p.Thr2547Ile)
n.8997C>T
n.9052C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37125374G>CCA359499699CPLANE1n.1827C>G
c.8828C>G (p.Thr2943Ser)
n.689C>G
c.8666C>G (p.Thr2889Ser)
c.5840C>G (n.5840C>G)
n.4009C>G
n.342-3590C>G
c.5864C>G (p.Thr1955Ser)
c.8825C>G (p.Thr2942Ser)
c.8717C>G (p.Thr2906Ser)
c.8699C>G (p.Thr2900Ser)
c.5471C>G (p.Thr1824Ser)
c.3401C>G (p.Thr1134Ser)
c.8774C>G (p.Thr2925Ser)
c.8720C>G (p.Thr2907Ser)
c.8510C>G (p.Thr2837Ser)
c.8156C>G (p.Thr2719Ser)
c.6053C>G (p.Thr2018Ser)
n.9003C>G
c.8639C>G (p.Thr2880Ser)
c.7835C>G (p.Thr2612Ser)
c.7640C>G (p.Thr2547Ser)
n.8997C>G
n.9052C>G
 gnomAD v4
5g.37125374G=CA1539667727CPLANE1n.1827C=
c.8828C= (p.Thr2943=)
n.689C=
c.8666C= (p.Thr2889=)
c.5840C= (n.5840C=)
n.4009C=
n.342-3590C=
c.5864C= (p.Thr1955=)
c.8825C= (p.Thr2942=)
c.8717C= (p.Thr2906=)
c.8699C= (p.Thr2900=)
c.5471C= (p.Thr1824=)
c.3401C= (p.Thr1134=)
c.8774C= (p.Thr2925=)
c.8720C= (p.Thr2907=)
c.8510C= (p.Thr2837=)
c.8156C= (p.Thr2719=)
c.6053C= (p.Thr2018=)
n.9003C=
c.8639C= (p.Thr2880=)
c.7835C= (p.Thr2612=)
c.7640C= (p.Thr2547=)
n.8997C=
n.9052C=
5g.37125374G>TCA359499700CPLANE1n.1827C>A
c.8828C>A (p.Thr2943Asn)
n.689C>A
c.8666C>A (p.Thr2889Asn)
c.5840C>A (n.5840C>A)
n.4009C>A
n.342-3590C>A
c.5864C>A (p.Thr1955Asn)
c.8825C>A (p.Thr2942Asn)
c.8717C>A (p.Thr2906Asn)
c.8699C>A (p.Thr2900Asn)
c.5471C>A (p.Thr1824Asn)
c.3401C>A (p.Thr1134Asn)
c.8774C>A (p.Thr2925Asn)
c.8720C>A (p.Thr2907Asn)
c.8510C>A (p.Thr2837Asn)
c.8156C>A (p.Thr2719Asn)
c.6053C>A (p.Thr2018Asn)
n.9003C>A
c.8639C>A (p.Thr2880Asn)
c.7835C>A (p.Thr2612Asn)
c.7640C>A (p.Thr2547Asn)
n.8997C>A
n.9052C>A
5g.37125375T>ACA359499701CPLANE1n.1826A>T
c.8827A>T (p.Thr2943Ser)
n.688A>T
c.8665A>T (p.Thr2889Ser)
c.5839A>T (n.5839A>T)
n.4008A>T
n.342-3591A>T
c.5863A>T (p.Thr1955Ser)
c.8824A>T (p.Thr2942Ser)
c.8716A>T (p.Thr2906Ser)
c.8698A>T (p.Thr2900Ser)
c.5470A>T (p.Thr1824Ser)
c.3400A>T (p.Thr1134Ser)
c.8773A>T (p.Thr2925Ser)
c.8719A>T (p.Thr2907Ser)
c.8509A>T (p.Thr2837Ser)
c.8155A>T (p.Thr2719Ser)
c.6052A>T (p.Thr2018Ser)
n.9002A>T
c.8638A>T (p.Thr2880Ser)
c.7834A>T (p.Thr2612Ser)
c.7639A>T (p.Thr2547Ser)
n.8996A>T
n.9051A>T
 gnomAD v4
5g.37125375T>CCA359499702CPLANE1n.1826A>G
c.8827A>G (p.Thr2943Ala)
n.688A>G
c.8665A>G (p.Thr2889Ala)
c.5839A>G (n.5839A>G)
n.4008A>G
n.342-3591A>G
c.5863A>G (p.Thr1955Ala)
c.8824A>G (p.Thr2942Ala)
c.8716A>G (p.Thr2906Ala)
c.8698A>G (p.Thr2900Ala)
c.5470A>G (p.Thr1824Ala)
c.3400A>G (p.Thr1134Ala)
c.8773A>G (p.Thr2925Ala)
c.8719A>G (p.Thr2907Ala)
c.8509A>G (p.Thr2837Ala)
c.8155A>G (p.Thr2719Ala)
c.6052A>G (p.Thr2018Ala)
n.9002A>G
c.8638A>G (p.Thr2880Ala)
c.7834A>G (p.Thr2612Ala)
c.7639A>G (p.Thr2547Ala)
n.8996A>G
n.9051A>G
 COSMIC COSMIC
5g.37125375T>GCA359499705CPLANE1n.1826A>C
c.8827A>C (p.Thr2943Pro)
n.688A>C
c.8665A>C (p.Thr2889Pro)
c.5839A>C (n.5839A>C)
n.4008A>C
n.342-3591A>C
c.5863A>C (p.Thr1955Pro)
c.8824A>C (p.Thr2942Pro)
c.8716A>C (p.Thr2906Pro)
c.8698A>C (p.Thr2900Pro)
c.5470A>C (p.Thr1824Pro)
c.3400A>C (p.Thr1134Pro)
c.8773A>C (p.Thr2925Pro)
c.8719A>C (p.Thr2907Pro)
c.8509A>C (p.Thr2837Pro)
c.8155A>C (p.Thr2719Pro)
c.6052A>C (p.Thr2018Pro)
n.9002A>C
c.8638A>C (p.Thr2880Pro)
c.7834A>C (p.Thr2612Pro)
c.7639A>C (p.Thr2547Pro)
n.8996A>C
n.9051A>C
5g.37125376T>ACA359499713CPLANE1n.1825A>T
c.8826A>T (p.Arg2942Ser)
n.687A>T
c.8664A>T (p.Arg2888Ser)
c.5838A>T (n.5838A>T)
n.4007A>T
n.342-3592A>T
c.5862A>T (p.Arg1954Ser)
c.8823A>T (p.Arg2941Ser)
c.8715A>T (p.Arg2905Ser)
c.8697A>T (p.Arg2899Ser)
c.5469A>T (p.Arg1823Ser)
c.3399A>T (p.Arg1133Ser)
c.8772A>T (p.Arg2924Ser)
c.8718A>T (p.Arg2906Ser)
c.8508A>T (p.Arg2836Ser)
c.8154A>T (p.Arg2718Ser)
c.6051A>T (p.Arg2017Ser)
n.9001A>T
c.8637A>T (p.Arg2879Ser)
c.7833A>T (p.Arg2611Ser)
c.7638A>T (p.Arg2546Ser)
n.8995A>T
n.9050A>T
5g.37125376T>CCA443922071CPLANE1n.1825A>G
c.8826A>G (p.Arg2942=)
n.687A>G
c.8664A>G (p.Arg2888=)
c.5838A>G (n.5838A>G)
n.4007A>G
n.342-3592A>G
c.5862A>G (p.Arg1954=)
c.8823A>G (p.Arg2941=)
c.8715A>G (p.Arg2905=)
c.8697A>G (p.Arg2899=)
c.5469A>G (p.Arg1823=)
c.3399A>G (p.Arg1133=)
c.8772A>G (p.Arg2924=)
c.8718A>G (p.Arg2906=)
c.8508A>G (p.Arg2836=)
c.8154A>G (p.Arg2718=)
c.6051A>G (p.Arg2017=)
n.9001A>G
c.8637A>G (p.Arg2879=)
c.7833A>G (p.Arg2611=)
c.7638A>G (p.Arg2546=)
n.8995A>G
n.9050A>G
5g.37125376T>GCA359499715CPLANE1n.1825A>C
c.8826A>C (p.Arg2942Ser)
n.687A>C
c.8664A>C (p.Arg2888Ser)
c.5838A>C (n.5838A>C)
n.4007A>C
n.342-3592A>C
c.5862A>C (p.Arg1954Ser)
c.8823A>C (p.Arg2941Ser)
c.8715A>C (p.Arg2905Ser)
c.8697A>C (p.Arg2899Ser)
c.5469A>C (p.Arg1823Ser)
c.3399A>C (p.Arg1133Ser)
c.8772A>C (p.Arg2924Ser)
c.8718A>C (p.Arg2906Ser)
c.8508A>C (p.Arg2836Ser)
c.8154A>C (p.Arg2718Ser)
c.6051A>C (p.Arg2017Ser)
n.9001A>C
c.8637A>C (p.Arg2879Ser)
c.7833A>C (p.Arg2611Ser)
c.7638A>C (p.Arg2546Ser)
n.8995A>C
n.9050A>C
 dbSNP gnomAD v3 gnomAD v4
5g.37125376T=CA1539667732CPLANE1n.1825A=
c.8826A= (p.Arg2942=)
n.687A=
c.8664A= (p.Arg2888=)
c.5838A= (n.5838A=)
n.4007A=
n.342-3592A=
c.5862A= (p.Arg1954=)
c.8823A= (p.Arg2941=)
c.8715A= (p.Arg2905=)
c.8697A= (p.Arg2899=)
c.5469A= (p.Arg1823=)
c.3399A= (p.Arg1133=)
c.8772A= (p.Arg2924=)
c.8718A= (p.Arg2906=)
c.8508A= (p.Arg2836=)
c.8154A= (p.Arg2718=)
c.6051A= (p.Arg2017=)
n.9001A=
c.8637A= (p.Arg2879=)
c.7833A= (p.Arg2611=)
c.7638A= (p.Arg2546=)
n.8995A=
n.9050A=
5g.37125377C>ACA359499732CPLANE1n.1824G>T
c.8825G>T (p.Arg2942Ile)
n.686G>T
c.8663G>T (p.Arg2888Ile)
c.5837G>T (n.5837G>T)
n.4006G>T
n.342-3593G>T
c.5861G>T (p.Arg1954Ile)
c.8822G>T (p.Arg2941Ile)
c.8714G>T (p.Arg2905Ile)
c.8696G>T (p.Arg2899Ile)
c.5468G>T (p.Arg1823Ile)
c.3398G>T (p.Arg1133Ile)
c.8771G>T (p.Arg2924Ile)
c.8717G>T (p.Arg2906Ile)
c.8507G>T (p.Arg2836Ile)
c.8153G>T (p.Arg2718Ile)
c.6050G>T (p.Arg2017Ile)
n.9000G>T
c.8636G>T (p.Arg2879Ile)
c.7832G>T (p.Arg2611Ile)
c.7637G>T (p.Arg2546Ile)
n.8994G>T
n.9049G>T
 dbSNP
5g.37125377C=CA1539667739CPLANE1n.1824G=
c.8825G= (p.Arg2942=)
n.686G=
c.8663G= (p.Arg2888=)
c.5837G= (n.5837G=)
n.4006G=
n.342-3593G=
c.5861G= (p.Arg1954=)
c.8822G= (p.Arg2941=)
c.8714G= (p.Arg2905=)
c.8696G= (p.Arg2899=)
c.5468G= (p.Arg1823=)
c.3398G= (p.Arg1133=)
c.8771G= (p.Arg2924=)
c.8717G= (p.Arg2906=)
c.8507G= (p.Arg2836=)
c.8153G= (p.Arg2718=)
c.6050G= (p.Arg2017=)
n.9000G=
c.8636G= (p.Arg2879=)
c.7832G= (p.Arg2611=)
c.7637G= (p.Arg2546=)
n.8994G=
n.9049G=
5g.37125377C>GCA359499734CPLANE1n.1824G>C
c.8825G>C (p.Arg2942Thr)
n.686G>C
c.8663G>C (p.Arg2888Thr)
c.5837G>C (n.5837G>C)
n.4006G>C
n.342-3593G>C
c.5861G>C (p.Arg1954Thr)
c.8822G>C (p.Arg2941Thr)
c.8714G>C (p.Arg2905Thr)
c.8696G>C (p.Arg2899Thr)
c.5468G>C (p.Arg1823Thr)
c.3398G>C (p.Arg1133Thr)
c.8771G>C (p.Arg2924Thr)
c.8717G>C (p.Arg2906Thr)
c.8507G>C (p.Arg2836Thr)
c.8153G>C (p.Arg2718Thr)
c.6050G>C (p.Arg2017Thr)
n.9000G>C
c.8636G>C (p.Arg2879Thr)
c.7832G>C (p.Arg2611Thr)
c.7637G>C (p.Arg2546Thr)
n.8994G>C
n.9049G>C
5g.37125377C>TCA359499739CPLANE1n.1824G>A
c.8825G>A (p.Arg2942Lys)
n.686G>A
c.8663G>A (p.Arg2888Lys)
c.5837G>A (n.5837G>A)
n.4006G>A
n.342-3593G>A
c.5861G>A (p.Arg1954Lys)
c.8822G>A (p.Arg2941Lys)
c.8714G>A (p.Arg2905Lys)
c.8696G>A (p.Arg2899Lys)
c.5468G>A (p.Arg1823Lys)
c.3398G>A (p.Arg1133Lys)
c.8771G>A (p.Arg2924Lys)
c.8717G>A (p.Arg2906Lys)
c.8507G>A (p.Arg2836Lys)
c.8153G>A (p.Arg2718Lys)
c.6050G>A (p.Arg2017Lys)
n.9000G>A
c.8636G>A (p.Arg2879Lys)
c.7832G>A (p.Arg2611Lys)
c.7637G>A (p.Arg2546Lys)
n.8994G>A
n.9049G>A
5g.37125378T>ACA359499741CPLANE1n.1823A>T
c.8824A>T (p.Arg2942Ter)
n.685A>T
c.8662A>T (p.Arg2888Ter)
c.5836A>T (n.5836A>T)
n.4005A>T
n.342-3594A>T
c.5860A>T (p.Arg1954Ter)
c.8821A>T (p.Arg2941Ter)
c.8713A>T (p.Arg2905Ter)
c.8695A>T (p.Arg2899Ter)
c.5467A>T (p.Arg1823Ter)
c.3397A>T (p.Arg1133Ter)
c.8770A>T (p.Arg2924Ter)
c.8716A>T (p.Arg2906Ter)
c.8506A>T (p.Arg2836Ter)
c.8152A>T (p.Arg2718Ter)
c.6049A>T (p.Arg2017Ter)
n.8999A>T
c.8635A>T (p.Arg2879Ter)
c.7831A>T (p.Arg2611Ter)
c.7636A>T (p.Arg2546Ter)
n.8993A>T
n.9048A>T
 gnomAD v4
5g.37125378T>CCA359499745CPLANE1n.1823A>G
c.8824A>G (p.Arg2942Gly)
n.685A>G
c.8662A>G (p.Arg2888Gly)
c.5836A>G (n.5836A>G)
n.4005A>G
n.342-3594A>G
c.5860A>G (p.Arg1954Gly)
c.8821A>G (p.Arg2941Gly)
c.8713A>G (p.Arg2905Gly)
c.8695A>G (p.Arg2899Gly)
c.5467A>G (p.Arg1823Gly)
c.3397A>G (p.Arg1133Gly)
c.8770A>G (p.Arg2924Gly)
c.8716A>G (p.Arg2906Gly)
c.8506A>G (p.Arg2836Gly)
c.8152A>G (p.Arg2718Gly)
c.6049A>G (p.Arg2017Gly)
n.8999A>G
c.8635A>G (p.Arg2879Gly)
c.7831A>G (p.Arg2611Gly)
c.7636A>G (p.Arg2546Gly)
n.8993A>G
n.9048A>G
 gnomAD v4
5g.37125378T>GCA443922073CPLANE1n.1823A>C
c.8824A>C (p.Arg2942=)
n.685A>C
c.8662A>C (p.Arg2888=)
c.5836A>C (n.5836A>C)
n.4005A>C
n.342-3594A>C
c.5860A>C (p.Arg1954=)
c.8821A>C (p.Arg2941=)
c.8713A>C (p.Arg2905=)
c.8695A>C (p.Arg2899=)
c.5467A>C (p.Arg1823=)
c.3397A>C (p.Arg1133=)
c.8770A>C (p.Arg2924=)
c.8716A>C (p.Arg2906=)
c.8506A>C (p.Arg2836=)
c.8152A>C (p.Arg2718=)
c.6049A>C (p.Arg2017=)
n.8999A>C
c.8635A>C (p.Arg2879=)
c.7831A>C (p.Arg2611=)
c.7636A>C (p.Arg2546=)
n.8993A>C
n.9048A>C
5g.37125379T>ACA359499746CPLANE1n.1822A>T
c.8823A>T (p.Gln2941His)
n.684A>T
c.8661A>T (p.Gln2887His)
c.5835A>T (n.5835A>T)
n.4004A>T
n.342-3595A>T
c.5859A>T (p.Gln1953His)
c.8820A>T (p.Gln2940His)
c.8712A>T (p.Gln2904His)
c.8694A>T (p.Gln2898His)
c.5466A>T (p.Gln1822His)
c.3396A>T (p.Gln1132His)
c.8769A>T (p.Gln2923His)
c.8715A>T (p.Gln2905His)
c.8505A>T (p.Gln2835His)
c.8151A>T (p.Gln2717His)
c.6048A>T (p.Gln2016His)
n.8998A>T
c.8634A>T (p.Gln2878His)
c.7830A>T (p.Gln2610His)
c.7635A>T (p.Gln2545His)
n.8992A>T
n.9047A>T
5g.37125379T>CCA443922074CPLANE1n.1822A>G
c.8823A>G (p.Gln2941=)
n.684A>G
c.8661A>G (p.Gln2887=)
c.5835A>G (n.5835A>G)
n.4004A>G
n.342-3595A>G
c.5859A>G (p.Gln1953=)
c.8820A>G (p.Gln2940=)
c.8712A>G (p.Gln2904=)
c.8694A>G (p.Gln2898=)
c.5466A>G (p.Gln1822=)
c.3396A>G (p.Gln1132=)
c.8769A>G (p.Gln2923=)
c.8715A>G (p.Gln2905=)
c.8505A>G (p.Gln2835=)
c.8151A>G (p.Gln2717=)
c.6048A>G (p.Gln2016=)
n.8998A>G
c.8634A>G (p.Gln2878=)
c.7830A>G (p.Gln2610=)
c.7635A>G (p.Gln2545=)
n.8992A>G
n.9047A>G
 ClinVar gnomAD v4
5g.37125379T>GCA359499747CPLANE1n.1822A>C
c.8823A>C (p.Gln2941His)
n.684A>C
c.8661A>C (p.Gln2887His)
c.5835A>C (n.5835A>C)
n.4004A>C
n.342-3595A>C
c.5859A>C (p.Gln1953His)
c.8820A>C (p.Gln2940His)
c.8712A>C (p.Gln2904His)
c.8694A>C (p.Gln2898His)
c.5466A>C (p.Gln1822His)
c.3396A>C (p.Gln1132His)
c.8769A>C (p.Gln2923His)
c.8715A>C (p.Gln2905His)
c.8505A>C (p.Gln2835His)
c.8151A>C (p.Gln2717His)
c.6048A>C (p.Gln2016His)
n.8998A>C
c.8634A>C (p.Gln2878His)
c.7830A>C (p.Gln2610His)
c.7635A>C (p.Gln2545His)
n.8992A>C
n.9047A>C
5g.37125380T>ACA359499748CPLANE1n.1821A>T
c.8822A>T (p.Gln2941Leu)
n.683A>T
c.8660A>T (p.Gln2887Leu)
c.5834A>T (n.5834A>T)
n.4003A>T
n.342-3596A>T
c.5858A>T (p.Gln1953Leu)
c.8819A>T (p.Gln2940Leu)
c.8711A>T (p.Gln2904Leu)
c.8693A>T (p.Gln2898Leu)
c.5465A>T (p.Gln1822Leu)
c.3395A>T (p.Gln1132Leu)
c.8768A>T (p.Gln2923Leu)
c.8714A>T (p.Gln2905Leu)
c.8504A>T (p.Gln2835Leu)
c.8150A>T (p.Gln2717Leu)
c.6047A>T (p.Gln2016Leu)
n.8997A>T
c.8633A>T (p.Gln2878Leu)
c.7829A>T (p.Gln2610Leu)
c.7634A>T (p.Gln2545Leu)
n.8991A>T
n.9046A>T
5g.37125380T>CCA359499749CPLANE1n.1821A>G
c.8822A>G (p.Gln2941Arg)
n.683A>G
c.8660A>G (p.Gln2887Arg)
c.5834A>G (n.5834A>G)
n.4003A>G
n.342-3596A>G
c.5858A>G (p.Gln1953Arg)
c.8819A>G (p.Gln2940Arg)
c.8711A>G (p.Gln2904Arg)
c.8693A>G (p.Gln2898Arg)
c.5465A>G (p.Gln1822Arg)
c.3395A>G (p.Gln1132Arg)
c.8768A>G (p.Gln2923Arg)
c.8714A>G (p.Gln2905Arg)
c.8504A>G (p.Gln2835Arg)
c.8150A>G (p.Gln2717Arg)
c.6047A>G (p.Gln2016Arg)
n.8997A>G
c.8633A>G (p.Gln2878Arg)
c.7829A>G (p.Gln2610Arg)
c.7634A>G (p.Gln2545Arg)
n.8991A>G
n.9046A>G
5g.37125380T>GCA359499750CPLANE1n.1821A>C
c.8822A>C (p.Gln2941Pro)
n.683A>C
c.8660A>C (p.Gln2887Pro)
c.5834A>C (n.5834A>C)
n.4003A>C
n.342-3596A>C
c.5858A>C (p.Gln1953Pro)
c.8819A>C (p.Gln2940Pro)
c.8711A>C (p.Gln2904Pro)
c.8693A>C (p.Gln2898Pro)
c.5465A>C (p.Gln1822Pro)
c.3395A>C (p.Gln1132Pro)
c.8768A>C (p.Gln2923Pro)
c.8714A>C (p.Gln2905Pro)
c.8504A>C (p.Gln2835Pro)
c.8150A>C (p.Gln2717Pro)
c.6047A>C (p.Gln2016Pro)
n.8997A>C
c.8633A>C (p.Gln2878Pro)
c.7829A>C (p.Gln2610Pro)
c.7634A>C (p.Gln2545Pro)
n.8991A>C
n.9046A>C
5g.37125381G>ACA359499752CPLANE1n.1820C>T
c.8821C>T (p.Gln2941Ter)
n.682C>T
c.8659C>T (p.Gln2887Ter)
c.5833C>T (n.5833C>T)
n.4002C>T
n.342-3597C>T
c.5857C>T (p.Gln1953Ter)
c.8818C>T (p.Gln2940Ter)
c.8710C>T (p.Gln2904Ter)
c.8692C>T (p.Gln2898Ter)
c.5464C>T (p.Gln1822Ter)
c.3394C>T (p.Gln1132Ter)
c.8767C>T (p.Gln2923Ter)
c.8713C>T (p.Gln2905Ter)
c.8503C>T (p.Gln2835Ter)
c.8149C>T (p.Gln2717Ter)
c.6046C>T (p.Gln2016Ter)
n.8996C>T
c.8632C>T (p.Gln2878Ter)
c.7828C>T (p.Gln2610Ter)
c.7633C>T (p.Gln2545Ter)
n.8990C>T
n.9045C>T
 dbSNP gnomAD v3 gnomAD v4
5g.37125381G>CCA359499754CPLANE1n.1820C>G
c.8821C>G (p.Gln2941Glu)
n.682C>G
c.8659C>G (p.Gln2887Glu)
c.5833C>G (n.5833C>G)
n.4002C>G
n.342-3597C>G
c.5857C>G (p.Gln1953Glu)
c.8818C>G (p.Gln2940Glu)
c.8710C>G (p.Gln2904Glu)
c.8692C>G (p.Gln2898Glu)
c.5464C>G (p.Gln1822Glu)
c.3394C>G (p.Gln1132Glu)
c.8767C>G (p.Gln2923Glu)
c.8713C>G (p.Gln2905Glu)
c.8503C>G (p.Gln2835Glu)
c.8149C>G (p.Gln2717Glu)
c.6046C>G (p.Gln2016Glu)
n.8996C>G
c.8632C>G (p.Gln2878Glu)
c.7828C>G (p.Gln2610Glu)
c.7633C>G (p.Gln2545Glu)
n.8990C>G
n.9045C>G
5g.37125381G=CA1539667742CPLANE1n.1820C=
c.8821C= (p.Gln2941=)
n.682C=
c.8659C= (p.Gln2887=)
c.5833C= (n.5833C=)
n.4002C=
n.342-3597C=
c.5857C= (p.Gln1953=)
c.8818C= (p.Gln2940=)
c.8710C= (p.Gln2904=)
c.8692C= (p.Gln2898=)
c.5464C= (p.Gln1822=)
c.3394C= (p.Gln1132=)
c.8767C= (p.Gln2923=)
c.8713C= (p.Gln2905=)
c.8503C= (p.Gln2835=)
c.8149C= (p.Gln2717=)
c.6046C= (p.Gln2016=)
n.8996C=
c.8632C= (p.Gln2878=)
c.7828C= (p.Gln2610=)
c.7633C= (p.Gln2545=)
n.8990C=
n.9045C=
5g.37125381G>TCA359499772CPLANE1n.1820C>A
c.8821C>A (p.Gln2941Lys)
n.682C>A
c.8659C>A (p.Gln2887Lys)
c.5833C>A (n.5833C>A)
n.4002C>A
n.342-3597C>A
c.5857C>A (p.Gln1953Lys)
c.8818C>A (p.Gln2940Lys)
c.8710C>A (p.Gln2904Lys)
c.8692C>A (p.Gln2898Lys)
c.5464C>A (p.Gln1822Lys)
c.3394C>A (p.Gln1132Lys)
c.8767C>A (p.Gln2923Lys)
c.8713C>A (p.Gln2905Lys)
c.8503C>A (p.Gln2835Lys)
c.8149C>A (p.Gln2717Lys)
c.6046C>A (p.Gln2016Lys)
n.8996C>A
c.8632C>A (p.Gln2878Lys)
c.7828C>A (p.Gln2610Lys)
c.7633C>A (p.Gln2545Lys)
n.8990C>A
n.9045C>A
5g.37125382T>ACA443922076CPLANE1n.1819A>T
c.8820A>T (p.Ser2940=)
n.681A>T
c.8658A>T (p.Ser2886=)
c.5832A>T (n.5832A>T)
n.4001A>T
n.342-3598A>T
c.5856A>T (p.Ser1952=)
c.8817A>T (p.Ser2939=)
c.8709A>T (p.Ser2903=)
c.8691A>T (p.Ser2897=)
c.5463A>T (p.Ser1821=)
c.3393A>T (p.Ser1131=)
c.8766A>T (p.Ser2922=)
c.8712A>T (p.Ser2904=)
c.8502A>T (p.Ser2834=)
c.8148A>T (p.Ser2716=)
c.6045A>T (p.Ser2015=)
n.8995A>T
c.8631A>T (p.Ser2877=)
c.7827A>T (p.Ser2609=)
c.7632A>T (p.Ser2544=)
n.8989A>T
n.9044A>T
5g.37125382T>CCA443922077CPLANE1n.1819A>G
c.8820A>G (p.Ser2940=)
n.681A>G
c.8658A>G (p.Ser2886=)
c.5832A>G (n.5832A>G)
n.4001A>G
n.342-3598A>G
c.5856A>G (p.Ser1952=)
c.8817A>G (p.Ser2939=)
c.8709A>G (p.Ser2903=)
c.8691A>G (p.Ser2897=)
c.5463A>G (p.Ser1821=)
c.3393A>G (p.Ser1131=)
c.8766A>G (p.Ser2922=)
c.8712A>G (p.Ser2904=)
c.8502A>G (p.Ser2834=)
c.8148A>G (p.Ser2716=)
c.6045A>G (p.Ser2015=)
n.8995A>G
c.8631A>G (p.Ser2877=)
c.7827A>G (p.Ser2609=)
c.7632A>G (p.Ser2544=)
n.8989A>G
n.9044A>G
5g.37125382T>GCA443922078CPLANE1n.1819A>C
c.8820A>C (p.Ser2940=)
n.681A>C
c.8658A>C (p.Ser2886=)
c.5832A>C (n.5832A>C)
n.4001A>C
n.342-3598A>C
c.5856A>C (p.Ser1952=)
c.8817A>C (p.Ser2939=)
c.8709A>C (p.Ser2903=)
c.8691A>C (p.Ser2897=)
c.5463A>C (p.Ser1821=)
c.3393A>C (p.Ser1131=)
c.8766A>C (p.Ser2922=)
c.8712A>C (p.Ser2904=)
c.8502A>C (p.Ser2834=)
c.8148A>C (p.Ser2716=)
c.6045A>C (p.Ser2015=)
n.8995A>C
c.8631A>C (p.Ser2877=)
c.7827A>C (p.Ser2609=)
c.7632A>C (p.Ser2544=)
n.8989A>C
n.9044A>C
5g.37125383G>ACA3237645CPLANE1n.1818C>T
c.8819C>T (p.Ser2940Leu)
n.680C>T
c.8657C>T (p.Ser2886Leu)
c.5831C>T (n.5831C>T)
n.4000C>T
n.342-3599C>T
c.5855C>T (p.Ser1952Leu)
c.8816C>T (p.Ser2939Leu)
c.8708C>T (p.Ser2903Leu)
c.8690C>T (p.Ser2897Leu)
c.5462C>T (p.Ser1821Leu)
c.3392C>T (p.Ser1131Leu)
c.8765C>T (p.Ser2922Leu)
c.8711C>T (p.Ser2904Leu)
c.8501C>T (p.Ser2834Leu)
c.8147C>T (p.Ser2716Leu)
c.6044C>T (p.Ser2015Leu)
n.8994C>T
c.8630C>T (p.Ser2877Leu)
c.7826C>T (p.Ser2609Leu)
c.7631C>T (p.Ser2544Leu)
n.8988C>T
n.9043C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37125383G>CCA359499777CPLANE1n.1818C>G
c.8819C>G (p.Ser2940Ter)
n.680C>G
c.8657C>G (p.Ser2886Ter)
c.5831C>G (n.5831C>G)
n.4000C>G
n.342-3599C>G
c.5855C>G (p.Ser1952Ter)
c.8816C>G (p.Ser2939Ter)
c.8708C>G (p.Ser2903Ter)
c.8690C>G (p.Ser2897Ter)
c.5462C>G (p.Ser1821Ter)
c.3392C>G (p.Ser1131Ter)
c.8765C>G (p.Ser2922Ter)
c.8711C>G (p.Ser2904Ter)
c.8501C>G (p.Ser2834Ter)
c.8147C>G (p.Ser2716Ter)
c.6044C>G (p.Ser2015Ter)
n.8994C>G
c.8630C>G (p.Ser2877Ter)
c.7826C>G (p.Ser2609Ter)
c.7631C>G (p.Ser2544Ter)
n.8988C>G
n.9043C>G
5g.37125383G=CA1539667744CPLANE1n.1818C=
c.8819C= (p.Ser2940=)
n.680C=
c.8657C= (p.Ser2886=)
c.5831C= (n.5831C=)
n.4000C=
n.342-3599C=
c.5855C= (p.Ser1952=)
c.8816C= (p.Ser2939=)
c.8708C= (p.Ser2903=)
c.8690C= (p.Ser2897=)
c.5462C= (p.Ser1821=)
c.3392C= (p.Ser1131=)
c.8765C= (p.Ser2922=)
c.8711C= (p.Ser2904=)
c.8501C= (p.Ser2834=)
c.8147C= (p.Ser2716=)
c.6044C= (p.Ser2015=)
n.8994C=
c.8630C= (p.Ser2877=)
c.7826C= (p.Ser2609=)
c.7631C= (p.Ser2544=)
n.8988C=
n.9043C=
5g.37125383G>TCA359499783CPLANE1n.1818C>A
c.8819C>A (p.Ser2940Ter)
n.680C>A
c.8657C>A (p.Ser2886Ter)
c.5831C>A (n.5831C>A)
n.4000C>A
n.342-3599C>A
c.5855C>A (p.Ser1952Ter)
c.8816C>A (p.Ser2939Ter)
c.8708C>A (p.Ser2903Ter)
c.8690C>A (p.Ser2897Ter)
c.5462C>A (p.Ser1821Ter)
c.3392C>A (p.Ser1131Ter)
c.8765C>A (p.Ser2922Ter)
c.8711C>A (p.Ser2904Ter)
c.8501C>A (p.Ser2834Ter)
c.8147C>A (p.Ser2716Ter)
c.6044C>A (p.Ser2015Ter)
n.8994C>A
c.8630C>A (p.Ser2877Ter)
c.7826C>A (p.Ser2609Ter)
c.7631C>A (p.Ser2544Ter)
n.8988C>A
n.9043C>A
5g.37125384A>CCA359499799CPLANE1n.1817T>G
c.8818T>G (p.Ser2940Ala)
n.679T>G
c.8656T>G (p.Ser2886Ala)
c.5830T>G (n.5830T>G)
n.3999T>G
n.342-3600T>G
c.5854T>G (p.Ser1952Ala)
c.8815T>G (p.Ser2939Ala)
c.8707T>G (p.Ser2903Ala)
c.8689T>G (p.Ser2897Ala)
c.5461T>G (p.Ser1821Ala)
c.3391T>G (p.Ser1131Ala)
c.8764T>G (p.Ser2922Ala)
c.8710T>G (p.Ser2904Ala)
c.8500T>G (p.Ser2834Ala)
c.8146T>G (p.Ser2716Ala)
c.6043T>G (p.Ser2015Ala)
n.8993T>G
c.8629T>G (p.Ser2877Ala)
c.7825T>G (p.Ser2609Ala)
c.7630T>G (p.Ser2544Ala)
n.8987T>G
n.9042T>G
5g.37125384A>GCA359499802CPLANE1n.1817T>C
c.8818T>C (p.Ser2940Pro)
n.679T>C
c.8656T>C (p.Ser2886Pro)
c.5830T>C (n.5830T>C)
n.3999T>C
n.342-3600T>C
c.5854T>C (p.Ser1952Pro)
c.8815T>C (p.Ser2939Pro)
c.8707T>C (p.Ser2903Pro)
c.8689T>C (p.Ser2897Pro)
c.5461T>C (p.Ser1821Pro)
c.3391T>C (p.Ser1131Pro)
c.8764T>C (p.Ser2922Pro)
c.8710T>C (p.Ser2904Pro)
c.8500T>C (p.Ser2834Pro)
c.8146T>C (p.Ser2716Pro)
c.6043T>C (p.Ser2015Pro)
n.8993T>C
c.8629T>C (p.Ser2877Pro)
c.7825T>C (p.Ser2609Pro)
c.7630T>C (p.Ser2544Pro)
n.8987T>C
n.9042T>C
5g.37125384A>TCA359499807CPLANE1n.1817T>A
c.8818T>A (p.Ser2940Thr)
n.679T>A
c.8656T>A (p.Ser2886Thr)
c.5830T>A (n.5830T>A)
n.3999T>A
n.342-3600T>A
c.5854T>A (p.Ser1952Thr)
c.8815T>A (p.Ser2939Thr)
c.8707T>A (p.Ser2903Thr)
c.8689T>A (p.Ser2897Thr)
c.5461T>A (p.Ser1821Thr)
c.3391T>A (p.Ser1131Thr)
c.8764T>A (p.Ser2922Thr)
c.8710T>A (p.Ser2904Thr)
c.8500T>A (p.Ser2834Thr)
c.8146T>A (p.Ser2716Thr)
c.6043T>A (p.Ser2015Thr)
n.8993T>A
c.8629T>A (p.Ser2877Thr)
c.7825T>A (p.Ser2609Thr)
c.7630T>A (p.Ser2544Thr)
n.8987T>A
n.9042T>A
5g.37125385delCA2695202708CPLANE1n.1817del
c.8818del (p.Ser2940HisfsTer15)
n.679del
c.8656del (p.Ser2886HisfsTer15)
c.5830del (n.5830del)
n.3999del
n.342-3600del
c.5854del (p.Ser1952HisfsTer15)
c.8815del (p.Ser2939HisfsTer15)
c.8707del (p.Ser2903HisfsTer15)
c.8689del (p.Ser2897HisfsTer15)
c.5461del (p.Ser1821HisfsTer15)
c.3391del (p.Ser1131HisfsTer15)
c.8764del (p.Ser2922HisfsTer15)
c.8710del (p.Ser2904HisfsTer15)
c.8500del (p.Ser2834HisfsTer15)
c.8146del (p.Ser2716HisfsTer15)
c.6043del (p.Ser2015HisfsTer15)
n.8993del
c.8629del (p.Ser2877HisfsTer15)
c.7825del (p.Ser2609HisfsTer15)
c.7630del (p.Ser2544HisfsTer15)
n.8987del
n.9042del
5g.37125385A>CCA359499821CPLANE1n.1816T>G
c.8817T>G (p.His2939Gln)
n.678T>G
c.8655T>G (p.His2885Gln)
c.5829T>G (n.5829T>G)
n.3998T>G
n.342-3601T>G
c.5853T>G (p.His1951Gln)
c.8814T>G (p.His2938Gln)
c.8706T>G (p.His2902Gln)
c.8688T>G (p.His2896Gln)
c.5460T>G (p.His1820Gln)
c.3390T>G (p.His1130Gln)
c.8763T>G (p.His2921Gln)
c.8709T>G (p.His2903Gln)
c.8499T>G (p.His2833Gln)
c.8145T>G (p.His2715Gln)
c.6042T>G (p.His2014Gln)
n.8992T>G
c.8628T>G (p.His2876Gln)
c.7824T>G (p.His2608Gln)
c.7629T>G (p.His2543Gln)
n.8986T>G
n.9041T>G
5g.37125385A>GCA443922080CPLANE1n.1816T>C
c.8817T>C (p.His2939=)
n.678T>C
c.8655T>C (p.His2885=)
c.5829T>C (n.5829T>C)
n.3998T>C
n.342-3601T>C
c.5853T>C (p.His1951=)
c.8814T>C (p.His2938=)
c.8706T>C (p.His2902=)
c.8688T>C (p.His2896=)
c.5460T>C (p.His1820=)
c.3390T>C (p.His1130=)
c.8763T>C (p.His2921=)
c.8709T>C (p.His2903=)
c.8499T>C (p.His2833=)
c.8145T>C (p.His2715=)
c.6042T>C (p.His2014=)
n.8992T>C
c.8628T>C (p.His2876=)
c.7824T>C (p.His2608=)
c.7629T>C (p.His2543=)
n.8986T>C
n.9041T>C
5g.37125385A>TCA359499826CPLANE1n.1816T>A
c.8817T>A (p.His2939Gln)
n.678T>A
c.8655T>A (p.His2885Gln)
c.5829T>A (n.5829T>A)
n.3998T>A
n.342-3601T>A
c.5853T>A (p.His1951Gln)
c.8814T>A (p.His2938Gln)
c.8706T>A (p.His2902Gln)
c.8688T>A (p.His2896Gln)
c.5460T>A (p.His1820Gln)
c.3390T>A (p.His1130Gln)
c.8763T>A (p.His2921Gln)
c.8709T>A (p.His2903Gln)
c.8499T>A (p.His2833Gln)
c.8145T>A (p.His2715Gln)
c.6042T>A (p.His2014Gln)
n.8992T>A
c.8628T>A (p.His2876Gln)
c.7824T>A (p.His2608Gln)
c.7629T>A (p.His2543Gln)
n.8986T>A
n.9041T>A
5g.37125386T>ACA359499829CPLANE1n.1815A>T
c.8816A>T (p.His2939Leu)
n.677A>T
c.8654A>T (p.His2885Leu)
c.5828A>T (n.5828A>T)
n.3997A>T
n.342-3602A>T
c.5852A>T (p.His1951Leu)
c.8813A>T (p.His2938Leu)
c.8705A>T (p.His2902Leu)
c.8687A>T (p.His2896Leu)
c.5459A>T (p.His1820Leu)
c.3389A>T (p.His1130Leu)
c.8762A>T (p.His2921Leu)
c.8708A>T (p.His2903Leu)
c.8498A>T (p.His2833Leu)
c.8144A>T (p.His2715Leu)
c.6041A>T (p.His2014Leu)
n.8991A>T
c.8627A>T (p.His2876Leu)
c.7823A>T (p.His2608Leu)
c.7628A>T (p.His2543Leu)
n.8985A>T
n.9040A>T
5g.37125386T>CCA359499835CPLANE1n.1815A>G
c.8816A>G (p.His2939Arg)
n.677A>G
c.8654A>G (p.His2885Arg)
c.5828A>G (n.5828A>G)
n.3997A>G
n.342-3602A>G
c.5852A>G (p.His1951Arg)
c.8813A>G (p.His2938Arg)
c.8705A>G (p.His2902Arg)
c.8687A>G (p.His2896Arg)
c.5459A>G (p.His1820Arg)
c.3389A>G (p.His1130Arg)
c.8762A>G (p.His2921Arg)
c.8708A>G (p.His2903Arg)
c.8498A>G (p.His2833Arg)
c.8144A>G (p.His2715Arg)
c.6041A>G (p.His2014Arg)
n.8991A>G
c.8627A>G (p.His2876Arg)
c.7823A>G (p.His2608Arg)
c.7628A>G (p.His2543Arg)
n.8985A>G
n.9040A>G
 gnomAD v4
5g.37125386T>GCA359499833CPLANE1n.1815A>C
c.8816A>C (p.His2939Pro)
n.677A>C
c.8654A>C (p.His2885Pro)
c.5828A>C (n.5828A>C)
n.3997A>C
n.342-3602A>C
c.5852A>C (p.His1951Pro)
c.8813A>C (p.His2938Pro)
c.8705A>C (p.His2902Pro)
c.8687A>C (p.His2896Pro)
c.5459A>C (p.His1820Pro)
c.3389A>C (p.His1130Pro)
c.8762A>C (p.His2921Pro)
c.8708A>C (p.His2903Pro)
c.8498A>C (p.His2833Pro)
c.8144A>C (p.His2715Pro)
c.6041A>C (p.His2014Pro)
n.8991A>C
c.8627A>C (p.His2876Pro)
c.7823A>C (p.His2608Pro)
c.7628A>C (p.His2543Pro)
n.8985A>C
n.9040A>C
5g.37125387G>ACA359499836CPLANE1n.1814C>T
c.8815C>T (p.His2939Tyr)
n.676C>T
c.8653C>T (p.His2885Tyr)
c.5827C>T (n.5827C>T)
n.3996C>T
n.342-3603C>T
c.5851C>T (p.His1951Tyr)
c.8812C>T (p.His2938Tyr)
c.8704C>T (p.His2902Tyr)
c.8686C>T (p.His2896Tyr)
c.5458C>T (p.His1820Tyr)
c.3388C>T (p.His1130Tyr)
c.8761C>T (p.His2921Tyr)
c.8707C>T (p.His2903Tyr)
c.8497C>T (p.His2833Tyr)
c.8143C>T (p.His2715Tyr)
c.6040C>T (p.His2014Tyr)
n.8990C>T
c.8626C>T (p.His2876Tyr)
c.7822C>T (p.His2608Tyr)
c.7627C>T (p.His2543Tyr)
n.8984C>T
n.9039C>T
5g.37125387G>CCA359499837CPLANE1n.1814C>G
c.8815C>G (p.His2939Asp)
n.676C>G
c.8653C>G (p.His2885Asp)
c.5827C>G (n.5827C>G)
n.3996C>G
n.342-3603C>G
c.5851C>G (p.His1951Asp)
c.8812C>G (p.His2938Asp)
c.8704C>G (p.His2902Asp)
c.8686C>G (p.His2896Asp)
c.5458C>G (p.His1820Asp)
c.3388C>G (p.His1130Asp)
c.8761C>G (p.His2921Asp)
c.8707C>G (p.His2903Asp)
c.8497C>G (p.His2833Asp)
c.8143C>G (p.His2715Asp)
c.6040C>G (p.His2014Asp)
n.8990C>G
c.8626C>G (p.His2876Asp)
c.7822C>G (p.His2608Asp)
c.7627C>G (p.His2543Asp)
n.8984C>G
n.9039C>G
5g.37125387G>TCA359499838CPLANE1n.1814C>A
c.8815C>A (p.His2939Asn)
n.676C>A
c.8653C>A (p.His2885Asn)
c.5827C>A (n.5827C>A)
n.3996C>A
n.342-3603C>A
c.5851C>A (p.His1951Asn)
c.8812C>A (p.His2938Asn)
c.8704C>A (p.His2902Asn)
c.8686C>A (p.His2896Asn)
c.5458C>A (p.His1820Asn)
c.3388C>A (p.His1130Asn)
c.8761C>A (p.His2921Asn)
c.8707C>A (p.His2903Asn)
c.8497C>A (p.His2833Asn)
c.8143C>A (p.His2715Asn)
c.6040C>A (p.His2014Asn)
n.8990C>A
c.8626C>A (p.His2876Asn)
c.7822C>A (p.His2608Asn)
c.7627C>A (p.His2543Asn)
n.8984C>A
n.9039C>A
5g.37125388T>ACA359499839CPLANE1n.1813A>T
c.8814A>T (p.Arg2938Ser)
n.675A>T
c.8652A>T (p.Arg2884Ser)
c.5826A>T (n.5826A>T)
n.3995A>T
n.342-3604A>T
c.5850A>T (p.Arg1950Ser)
c.8811A>T (p.Arg2937Ser)
c.8703A>T (p.Arg2901Ser)
c.8685A>T (p.Arg2895Ser)
c.5457A>T (p.Arg1819Ser)
c.3387A>T (p.Arg1129Ser)
c.8760A>T (p.Arg2920Ser)
c.8706A>T (p.Arg2902Ser)
c.8496A>T (p.Arg2832Ser)
c.8142A>T (p.Arg2714Ser)
c.6039A>T (p.Arg2013Ser)
n.8989A>T
c.8625A>T (p.Arg2875Ser)
c.7821A>T (p.Arg2607Ser)
c.7626A>T (p.Arg2542Ser)
n.8983A>T
n.9038A>T
5g.37125388T>CCA443922082CPLANE1n.1813A>G
c.8814A>G (p.Arg2938=)
n.675A>G
c.8652A>G (p.Arg2884=)
c.5826A>G (n.5826A>G)
n.3995A>G
n.342-3604A>G
c.5850A>G (p.Arg1950=)
c.8811A>G (p.Arg2937=)
c.8703A>G (p.Arg2901=)
c.8685A>G (p.Arg2895=)
c.5457A>G (p.Arg1819=)
c.3387A>G (p.Arg1129=)
c.8760A>G (p.Arg2920=)
c.8706A>G (p.Arg2902=)
c.8496A>G (p.Arg2832=)
c.8142A>G (p.Arg2714=)
c.6039A>G (p.Arg2013=)
n.8989A>G
c.8625A>G (p.Arg2875=)
c.7821A>G (p.Arg2607=)
c.7626A>G (p.Arg2542=)
n.8983A>G
n.9038A>G
5g.37125388T>GCA359499842CPLANE1n.1813A>C
c.8814A>C (p.Arg2938Ser)
n.675A>C
c.8652A>C (p.Arg2884Ser)
c.5826A>C (n.5826A>C)
n.3995A>C
n.342-3604A>C
c.5850A>C (p.Arg1950Ser)
c.8811A>C (p.Arg2937Ser)
c.8703A>C (p.Arg2901Ser)
c.8685A>C (p.Arg2895Ser)
c.5457A>C (p.Arg1819Ser)
c.3387A>C (p.Arg1129Ser)
c.8760A>C (p.Arg2920Ser)
c.8706A>C (p.Arg2902Ser)
c.8496A>C (p.Arg2832Ser)
c.8142A>C (p.Arg2714Ser)
c.6039A>C (p.Arg2013Ser)
n.8989A>C
c.8625A>C (p.Arg2875Ser)
c.7821A>C (p.Arg2607Ser)
c.7626A>C (p.Arg2542Ser)
n.8983A>C
n.9038A>C
5g.37125389C>ACA359499846CPLANE1n.1812G>T
c.8813G>T (p.Arg2938Ile)
n.674G>T
c.8651G>T (p.Arg2884Ile)
c.5825G>T (n.5825G>T)
n.3994G>T
n.342-3605G>T
c.5849G>T (p.Arg1950Ile)
c.8810G>T (p.Arg2937Ile)
c.8702G>T (p.Arg2901Ile)
c.8684G>T (p.Arg2895Ile)
c.5456G>T (p.Arg1819Ile)
c.3386G>T (p.Arg1129Ile)
c.8759G>T (p.Arg2920Ile)
c.8705G>T (p.Arg2902Ile)
c.8495G>T (p.Arg2832Ile)
c.8141G>T (p.Arg2714Ile)
c.6038G>T (p.Arg2013Ile)
n.8988G>T
c.8624G>T (p.Arg2875Ile)
c.7820G>T (p.Arg2607Ile)
c.7625G>T (p.Arg2542Ile)
n.8982G>T
n.9037G>T
5g.37125389C=CA1539667747CPLANE1n.1812G=
c.8813G= (p.Arg2938=)
n.674G=
c.8651G= (p.Arg2884=)
c.5825G= (n.5825G=)
n.3994G=
n.342-3605G=
c.5849G= (p.Arg1950=)
c.8810G= (p.Arg2937=)
c.8702G= (p.Arg2901=)
c.8684G= (p.Arg2895=)
c.5456G= (p.Arg1819=)
c.3386G= (p.Arg1129=)
c.8759G= (p.Arg2920=)
c.8705G= (p.Arg2902=)
c.8495G= (p.Arg2832=)
c.8141G= (p.Arg2714=)
c.6038G= (p.Arg2013=)
n.8988G=
c.8624G= (p.Arg2875=)
c.7820G= (p.Arg2607=)
c.7625G= (p.Arg2542=)
n.8982G=
n.9037G=
5g.37125389C>GCA359499848CPLANE1n.1812G>C
c.8813G>C (p.Arg2938Thr)
n.674G>C
c.8651G>C (p.Arg2884Thr)
c.5825G>C (n.5825G>C)
n.3994G>C
n.342-3605G>C
c.5849G>C (p.Arg1950Thr)
c.8810G>C (p.Arg2937Thr)
c.8702G>C (p.Arg2901Thr)
c.8684G>C (p.Arg2895Thr)
c.5456G>C (p.Arg1819Thr)
c.3386G>C (p.Arg1129Thr)
c.8759G>C (p.Arg2920Thr)
c.8705G>C (p.Arg2902Thr)
c.8495G>C (p.Arg2832Thr)
c.8141G>C (p.Arg2714Thr)
c.6038G>C (p.Arg2013Thr)
n.8988G>C
c.8624G>C (p.Arg2875Thr)
c.7820G>C (p.Arg2607Thr)
c.7625G>C (p.Arg2542Thr)
n.8982G>C
n.9037G>C
 dbSNP
5g.37125389C>TCA359499850CPLANE1n.1812G>A
c.8813G>A (p.Arg2938Lys)
n.674G>A
c.8651G>A (p.Arg2884Lys)
c.5825G>A (n.5825G>A)
n.3994G>A
n.342-3605G>A
c.5849G>A (p.Arg1950Lys)
c.8810G>A (p.Arg2937Lys)
c.8702G>A (p.Arg2901Lys)
c.8684G>A (p.Arg2895Lys)
c.5456G>A (p.Arg1819Lys)
c.3386G>A (p.Arg1129Lys)
c.8759G>A (p.Arg2920Lys)
c.8705G>A (p.Arg2902Lys)
c.8495G>A (p.Arg2832Lys)
c.8141G>A (p.Arg2714Lys)
c.6038G>A (p.Arg2013Lys)
n.8988G>A
c.8624G>A (p.Arg2875Lys)
c.7820G>A (p.Arg2607Lys)
c.7625G>A (p.Arg2542Lys)
n.8982G>A
n.9037G>A
 dbSNP
5g.37125390T>ACA359499852CPLANE1n.1811A>T
c.8812A>T (p.Arg2938Ter)
n.673A>T
c.8650A>T (p.Arg2884Ter)
c.5824A>T (n.5824A>T)
n.3993A>T
n.342-3606A>T
c.5848A>T (p.Arg1950Ter)
c.8809A>T (p.Arg2937Ter)
c.8701A>T (p.Arg2901Ter)
c.8683A>T (p.Arg2895Ter)
c.5455A>T (p.Arg1819Ter)
c.3385A>T (p.Arg1129Ter)
c.8758A>T (p.Arg2920Ter)
c.8704A>T (p.Arg2902Ter)
c.8494A>T (p.Arg2832Ter)
c.8140A>T (p.Arg2714Ter)
c.6037A>T (p.Arg2013Ter)
n.8987A>T
c.8623A>T (p.Arg2875Ter)
c.7819A>T (p.Arg2607Ter)
c.7624A>T (p.Arg2542Ter)
n.8981A>T
n.9036A>T
5g.37125390T>CCA359499855CPLANE1n.1811A>G
c.8812A>G (p.Arg2938Gly)
n.673A>G
c.8650A>G (p.Arg2884Gly)
c.5824A>G (n.5824A>G)
n.3993A>G
n.342-3606A>G
c.5848A>G (p.Arg1950Gly)
c.8809A>G (p.Arg2937Gly)
c.8701A>G (p.Arg2901Gly)
c.8683A>G (p.Arg2895Gly)
c.5455A>G (p.Arg1819Gly)
c.3385A>G (p.Arg1129Gly)
c.8758A>G (p.Arg2920Gly)
c.8704A>G (p.Arg2902Gly)
c.8494A>G (p.Arg2832Gly)
c.8140A>G (p.Arg2714Gly)
c.6037A>G (p.Arg2013Gly)
n.8987A>G
c.8623A>G (p.Arg2875Gly)
c.7819A>G (p.Arg2607Gly)
c.7624A>G (p.Arg2542Gly)
n.8981A>G
n.9036A>G
5g.37125390T>GCA443922083CPLANE1n.1811A>C
c.8812A>C (p.Arg2938=)
n.673A>C
c.8650A>C (p.Arg2884=)
c.5824A>C (n.5824A>C)
n.3993A>C
n.342-3606A>C
c.5848A>C (p.Arg1950=)
c.8809A>C (p.Arg2937=)
c.8701A>C (p.Arg2901=)
c.8683A>C (p.Arg2895=)
c.5455A>C (p.Arg1819=)
c.3385A>C (p.Arg1129=)
c.8758A>C (p.Arg2920=)
c.8704A>C (p.Arg2902=)
c.8494A>C (p.Arg2832=)
c.8140A>C (p.Arg2714=)
c.6037A>C (p.Arg2013=)
n.8987A>C
c.8623A>C (p.Arg2875=)
c.7819A>C (p.Arg2607=)
c.7624A>C (p.Arg2542=)
n.8981A>C
n.9036A>C
5g.37125391G>ACA443922084CPLANE1n.1810C>T
c.8811C>T (p.Gly2937=)
n.672C>T
c.8649C>T (p.Gly2883=)
c.5823C>T (n.5823C>T)
n.3992C>T
n.342-3607C>T
c.5847C>T (p.Gly1949=)
c.8808C>T (p.Gly2936=)
c.8700C>T (p.Gly2900=)
c.8682C>T (p.Gly2894=)
c.5454C>T (p.Gly1818=)
c.3384C>T (p.Gly1128=)
c.8757C>T (p.Gly2919=)
c.8703C>T (p.Gly2901=)
c.8493C>T (p.Gly2831=)
c.8139C>T (p.Gly2713=)
c.6036C>T (p.Gly2012=)
n.8986C>T
c.8622C>T (p.Gly2874=)
c.7818C>T (p.Gly2606=)
c.7623C>T (p.Gly2541=)
n.8980C>T
n.9035C>T
5g.37125391G>CCA443922086CPLANE1n.1810C>G
c.8811C>G (p.Gly2937=)
n.672C>G
c.8649C>G (p.Gly2883=)
c.5823C>G (n.5823C>G)
n.3992C>G
n.342-3607C>G
c.5847C>G (p.Gly1949=)
c.8808C>G (p.Gly2936=)
c.8700C>G (p.Gly2900=)
c.8682C>G (p.Gly2894=)
c.5454C>G (p.Gly1818=)
c.3384C>G (p.Gly1128=)
c.8757C>G (p.Gly2919=)
c.8703C>G (p.Gly2901=)
c.8493C>G (p.Gly2831=)
c.8139C>G (p.Gly2713=)
c.6036C>G (p.Gly2012=)
n.8986C>G
c.8622C>G (p.Gly2874=)
c.7818C>G (p.Gly2606=)
c.7623C>G (p.Gly2541=)
n.8980C>G
n.9035C>G
5g.37125391G>TCA443922085CPLANE1n.1810C>A
c.8811C>A (p.Gly2937=)
n.672C>A
c.8649C>A (p.Gly2883=)
c.5823C>A (n.5823C>A)
n.3992C>A
n.342-3607C>A
c.5847C>A (p.Gly1949=)
c.8808C>A (p.Gly2936=)
c.8700C>A (p.Gly2900=)
c.8682C>A (p.Gly2894=)
c.5454C>A (p.Gly1818=)
c.3384C>A (p.Gly1128=)
c.8757C>A (p.Gly2919=)
c.8703C>A (p.Gly2901=)
c.8493C>A (p.Gly2831=)
c.8139C>A (p.Gly2713=)
c.6036C>A (p.Gly2012=)
n.8986C>A
c.8622C>A (p.Gly2874=)
c.7818C>A (p.Gly2606=)
c.7623C>A (p.Gly2541=)
n.8980C>A
n.9035C>A
 gnomAD v4
5g.37125392C>ACA359499866CPLANE1n.1809G>T
c.8810G>T (p.Gly2937Val)
n.671G>T
c.8648G>T (p.Gly2883Val)
c.5822G>T (n.5822G>T)
n.3991G>T
n.342-3608G>T
c.5846G>T (p.Gly1949Val)
c.8807G>T (p.Gly2936Val)
c.8699G>T (p.Gly2900Val)
c.8681G>T (p.Gly2894Val)
c.5453G>T (p.Gly1818Val)
c.3383G>T (p.Gly1128Val)
c.8756G>T (p.Gly2919Val)
c.8702G>T (p.Gly2901Val)
c.8492G>T (p.Gly2831Val)
c.8138G>T (p.Gly2713Val)
c.6035G>T (p.Gly2012Val)
n.8985G>T
c.8621G>T (p.Gly2874Val)
c.7817G>T (p.Gly2606Val)
c.7622G>T (p.Gly2541Val)
n.8979G>T
n.9034G>T
5g.37125392C>GCA359499864CPLANE1n.1809G>C
c.8810G>C (p.Gly2937Ala)
n.671G>C
c.8648G>C (p.Gly2883Ala)
c.5822G>C (n.5822G>C)
n.3991G>C
n.342-3608G>C
c.5846G>C (p.Gly1949Ala)
c.8807G>C (p.Gly2936Ala)
c.8699G>C (p.Gly2900Ala)
c.8681G>C (p.Gly2894Ala)
c.5453G>C (p.Gly1818Ala)
c.3383G>C (p.Gly1128Ala)
c.8756G>C (p.Gly2919Ala)
c.8702G>C (p.Gly2901Ala)
c.8492G>C (p.Gly2831Ala)
c.8138G>C (p.Gly2713Ala)
c.6035G>C (p.Gly2012Ala)
n.8985G>C
c.8621G>C (p.Gly2874Ala)
c.7817G>C (p.Gly2606Ala)
c.7622G>C (p.Gly2541Ala)
n.8979G>C
n.9034G>C
5g.37125392C>TCA359499858CPLANE1n.1809G>A
c.8810G>A (p.Gly2937Asp)
n.671G>A
c.8648G>A (p.Gly2883Asp)
c.5822G>A (n.5822G>A)
n.3991G>A
n.342-3608G>A
c.5846G>A (p.Gly1949Asp)
c.8807G>A (p.Gly2936Asp)
c.8699G>A (p.Gly2900Asp)
c.8681G>A (p.Gly2894Asp)
c.5453G>A (p.Gly1818Asp)
c.3383G>A (p.Gly1128Asp)
c.8756G>A (p.Gly2919Asp)
c.8702G>A (p.Gly2901Asp)
c.8492G>A (p.Gly2831Asp)
c.8138G>A (p.Gly2713Asp)
c.6035G>A (p.Gly2012Asp)
n.8985G>A
c.8621G>A (p.Gly2874Asp)
c.7817G>A (p.Gly2606Asp)
c.7622G>A (p.Gly2541Asp)
n.8979G>A
n.9034G>A
5g.37125392_37125406delCA2578290399CPLANE1n.1795_1809del
c.8796_8810del (p.Gln2933_Gly2937del)
n.657_671del
c.8634_8648del (p.Gln2879_Gly2883del)
c.5808_5822del (n.5808_5822del)
n.3977_3991del
n.342-3622_342-3608del
c.5832_5846del (p.Gln1945_Gly1949del)
c.8793_8807del (p.Gln2932_Gly2936del)
c.8685_8699del (p.Gln2896_Gly2900del)
c.8667_8681del (p.Gln2890_Gly2894del)
c.5439_5453del (p.Gln1814_Gly1818del)
c.3369_3383del (p.Gln1124_Gly1128del)
c.8742_8756del (p.Gln2915_Gly2919del)
c.8688_8702del (p.Gln2897_Gly2901del)
c.8478_8492del (p.Gln2827_Gly2831del)
c.8124_8138del (p.Gln2709_Gly2713del)
c.6021_6035del (p.Gln2008_Gly2012del)
n.8971_8985del
c.8607_8621del (p.Gln2870_Gly2874del)
c.7803_7817del (p.Gln2602_Gly2606del)
c.7608_7622del (p.Gln2537_Gly2541del)
n.8965_8979del
n.9020_9034del
5g.37125393C>ACA359499885CPLANE1n.1808G>T
c.8809G>T (p.Gly2937Cys)
n.670G>T
c.8647G>T (p.Gly2883Cys)
c.5821G>T (n.5821G>T)
n.3990G>T
n.342-3609G>T
c.5845G>T (p.Gly1949Cys)
c.8806G>T (p.Gly2936Cys)
c.8698G>T (p.Gly2900Cys)
c.8680G>T (p.Gly2894Cys)
c.5452G>T (p.Gly1818Cys)
c.3382G>T (p.Gly1128Cys)
c.8755G>T (p.Gly2919Cys)
c.8701G>T (p.Gly2901Cys)
c.8491G>T (p.Gly2831Cys)
c.8137G>T (p.Gly2713Cys)
c.6034G>T (p.Gly2012Cys)
n.8984G>T
c.8620G>T (p.Gly2874Cys)
c.7816G>T (p.Gly2606Cys)
c.7621G>T (p.Gly2541Cys)
n.8978G>T
n.9033G>T
 dbSNP
5g.37125393C=CA1539667750CPLANE1n.1808G=
c.8809G= (p.Gly2937=)
n.670G=
c.8647G= (p.Gly2883=)
c.5821G= (n.5821G=)
n.3990G=
n.342-3609G=
c.5845G= (p.Gly1949=)
c.8806G= (p.Gly2936=)
c.8698G= (p.Gly2900=)
c.8680G= (p.Gly2894=)
c.5452G= (p.Gly1818=)
c.3382G= (p.Gly1128=)
c.8755G= (p.Gly2919=)
c.8701G= (p.Gly2901=)
c.8491G= (p.Gly2831=)
c.8137G= (p.Gly2713=)
c.6034G= (p.Gly2012=)
n.8984G=
c.8620G= (p.Gly2874=)
c.7816G= (p.Gly2606=)
c.7621G= (p.Gly2541=)
n.8978G=
n.9033G=
5g.37125393C>GCA359499890CPLANE1n.1808G>C
c.8809G>C (p.Gly2937Arg)
n.670G>C
c.8647G>C (p.Gly2883Arg)
c.5821G>C (n.5821G>C)
n.3990G>C
n.342-3609G>C
c.5845G>C (p.Gly1949Arg)
c.8806G>C (p.Gly2936Arg)
c.8698G>C (p.Gly2900Arg)
c.8680G>C (p.Gly2894Arg)
c.5452G>C (p.Gly1818Arg)
c.3382G>C (p.Gly1128Arg)
c.8755G>C (p.Gly2919Arg)
c.8701G>C (p.Gly2901Arg)
c.8491G>C (p.Gly2831Arg)
c.8137G>C (p.Gly2713Arg)
c.6034G>C (p.Gly2012Arg)
n.8984G>C
c.8620G>C (p.Gly2874Arg)
c.7816G>C (p.Gly2606Arg)
c.7621G>C (p.Gly2541Arg)
n.8978G>C
n.9033G>C
5g.37125393C>TCA359499888CPLANE1n.1808G>A
c.8809G>A (p.Gly2937Ser)
n.670G>A
c.8647G>A (p.Gly2883Ser)
c.5821G>A (n.5821G>A)
n.3990G>A
n.342-3609G>A
c.5845G>A (p.Gly1949Ser)
c.8806G>A (p.Gly2936Ser)
c.8698G>A (p.Gly2900Ser)
c.8680G>A (p.Gly2894Ser)
c.5452G>A (p.Gly1818Ser)
c.3382G>A (p.Gly1128Ser)
c.8755G>A (p.Gly2919Ser)
c.8701G>A (p.Gly2901Ser)
c.8491G>A (p.Gly2831Ser)
c.8137G>A (p.Gly2713Ser)
c.6034G>A (p.Gly2012Ser)
n.8984G>A
c.8620G>A (p.Gly2874Ser)
c.7816G>A (p.Gly2606Ser)
c.7621G>A (p.Gly2541Ser)
n.8978G>A
n.9033G>A
5g.37125394A=CA1539667752CPLANE1n.1807T=
c.8808T= (p.Ser2936=)
n.669T=
c.8646T= (p.Ser2882=)
c.5820T= (n.5820T=)
n.3989T=
n.342-3610T=
c.5844T= (p.Ser1948=)
c.8805T= (p.Ser2935=)
c.8697T= (p.Ser2899=)
c.8679T= (p.Ser2893=)
c.5451T= (p.Ser1817=)
c.3381T= (p.Ser1127=)
c.8754T= (p.Ser2918=)
c.8700T= (p.Ser2900=)
c.8490T= (p.Ser2830=)
c.8136T= (p.Ser2712=)
c.6033T= (p.Ser2011=)
n.8983T=
c.8619T= (p.Ser2873=)
c.7815T= (p.Ser2605=)
c.7620T= (p.Ser2540=)
n.8977T=
n.9032T=
5g.37125394A>CCA443922090CPLANE1n.1807T>G
c.8808T>G (p.Ser2936=)
n.669T>G
c.8646T>G (p.Ser2882=)
c.5820T>G (n.5820T>G)
n.3989T>G
n.342-3610T>G
c.5844T>G (p.Ser1948=)
c.8805T>G (p.Ser2935=)
c.8697T>G (p.Ser2899=)
c.8679T>G (p.Ser2893=)
c.5451T>G (p.Ser1817=)
c.3381T>G (p.Ser1127=)
c.8754T>G (p.Ser2918=)
c.8700T>G (p.Ser2900=)
c.8490T>G (p.Ser2830=)
c.8136T>G (p.Ser2712=)
c.6033T>G (p.Ser2011=)
n.8983T>G
c.8619T>G (p.Ser2873=)
c.7815T>G (p.Ser2605=)
c.7620T>G (p.Ser2540=)
n.8977T>G
n.9032T>G
5g.37125394A>GCA443922091CPLANE1n.1807T>C
c.8808T>C (p.Ser2936=)
n.669T>C
c.8646T>C (p.Ser2882=)
c.5820T>C (n.5820T>C)
n.3989T>C
n.342-3610T>C
c.5844T>C (p.Ser1948=)
c.8805T>C (p.Ser2935=)
c.8697T>C (p.Ser2899=)
c.8679T>C (p.Ser2893=)
c.5451T>C (p.Ser1817=)
c.3381T>C (p.Ser1127=)
c.8754T>C (p.Ser2918=)
c.8700T>C (p.Ser2900=)
c.8490T>C (p.Ser2830=)
c.8136T>C (p.Ser2712=)
c.6033T>C (p.Ser2011=)
n.8983T>C
c.8619T>C (p.Ser2873=)
c.7815T>C (p.Ser2605=)
c.7620T>C (p.Ser2540=)
n.8977T>C
n.9032T>C
 dbSNP
5g.37125394A>TCA443922092CPLANE1n.1807T>A
c.8808T>A (p.Ser2936=)
n.669T>A
c.8646T>A (p.Ser2882=)
c.5820T>A (n.5820T>A)
n.3989T>A
n.342-3610T>A
c.5844T>A (p.Ser1948=)
c.8805T>A (p.Ser2935=)
c.8697T>A (p.Ser2899=)
c.8679T>A (p.Ser2893=)
c.5451T>A (p.Ser1817=)
c.3381T>A (p.Ser1127=)
c.8754T>A (p.Ser2918=)
c.8700T>A (p.Ser2900=)
c.8490T>A (p.Ser2830=)
c.8136T>A (p.Ser2712=)
c.6033T>A (p.Ser2011=)
n.8983T>A
c.8619T>A (p.Ser2873=)
c.7815T>A (p.Ser2605=)
c.7620T>A (p.Ser2540=)
n.8977T>A
n.9032T>A
5g.37125395G>ACA359499905CPLANE1n.1806C>T
c.8807C>T (p.Ser2936Phe)
n.668C>T
c.8645C>T (p.Ser2882Phe)
c.5819C>T (n.5819C>T)
n.3988C>T
n.342-3611C>T
c.5843C>T (p.Ser1948Phe)
c.8804C>T (p.Ser2935Phe)
c.8696C>T (p.Ser2899Phe)
c.8678C>T (p.Ser2893Phe)
c.5450C>T (p.Ser1817Phe)
c.3380C>T (p.Ser1127Phe)
c.8753C>T (p.Ser2918Phe)
c.8699C>T (p.Ser2900Phe)
c.8489C>T (p.Ser2830Phe)
c.8135C>T (p.Ser2712Phe)
c.6032C>T (p.Ser2011Phe)
n.8982C>T
c.8618C>T (p.Ser2873Phe)
c.7814C>T (p.Ser2605Phe)
c.7619C>T (p.Ser2540Phe)
n.8976C>T
n.9031C>T
5g.37125395G>CCA359499917CPLANE1n.1806C>G
c.8807C>G (p.Ser2936Cys)
n.668C>G
c.8645C>G (p.Ser2882Cys)
c.5819C>G (n.5819C>G)
n.3988C>G
n.342-3611C>G
c.5843C>G (p.Ser1948Cys)
c.8804C>G (p.Ser2935Cys)
c.8696C>G (p.Ser2899Cys)
c.8678C>G (p.Ser2893Cys)
c.5450C>G (p.Ser1817Cys)
c.3380C>G (p.Ser1127Cys)
c.8753C>G (p.Ser2918Cys)
c.8699C>G (p.Ser2900Cys)
c.8489C>G (p.Ser2830Cys)
c.8135C>G (p.Ser2712Cys)
c.6032C>G (p.Ser2011Cys)
n.8982C>G
c.8618C>G (p.Ser2873Cys)
c.7814C>G (p.Ser2605Cys)
c.7619C>G (p.Ser2540Cys)
n.8976C>G
n.9031C>G
 gnomAD v4
5g.37125395G>TCA359499910CPLANE1n.1806C>A
c.8807C>A (p.Ser2936Tyr)
n.668C>A
c.8645C>A (p.Ser2882Tyr)
c.5819C>A (n.5819C>A)
n.3988C>A
n.342-3611C>A
c.5843C>A (p.Ser1948Tyr)
c.8804C>A (p.Ser2935Tyr)
c.8696C>A (p.Ser2899Tyr)
c.8678C>A (p.Ser2893Tyr)
c.5450C>A (p.Ser1817Tyr)
c.3380C>A (p.Ser1127Tyr)
c.8753C>A (p.Ser2918Tyr)
c.8699C>A (p.Ser2900Tyr)
c.8489C>A (p.Ser2830Tyr)
c.8135C>A (p.Ser2712Tyr)
c.6032C>A (p.Ser2011Tyr)
n.8982C>A
c.8618C>A (p.Ser2873Tyr)
c.7814C>A (p.Ser2605Tyr)
c.7619C>A (p.Ser2540Tyr)
n.8976C>A
n.9031C>A
 gnomAD v4
5g.37125396A=CA1539667756CPLANE1n.1805T=
c.8806T= (p.Ser2936=)
n.667T=
c.8644T= (p.Ser2882=)
c.5818T= (n.5818T=)
n.3987T=
n.342-3612T=
c.5842T= (p.Ser1948=)
c.8803T= (p.Ser2935=)
c.8695T= (p.Ser2899=)
c.8677T= (p.Ser2893=)
c.5449T= (p.Ser1817=)
c.3379T= (p.Ser1127=)
c.8752T= (p.Ser2918=)
c.8698T= (p.Ser2900=)
c.8488T= (p.Ser2830=)
c.8134T= (p.Ser2712=)
c.6031T= (p.Ser2011=)
n.8981T=
c.8617T= (p.Ser2873=)
c.7813T= (p.Ser2605=)
c.7618T= (p.Ser2540=)
n.8975T=
n.9030T=
5g.37125396A>CCA359499921CPLANE1n.1805T>G
c.8806T>G (p.Ser2936Ala)
n.667T>G
c.8644T>G (p.Ser2882Ala)
c.5818T>G (n.5818T>G)
n.3987T>G
n.342-3612T>G
c.5842T>G (p.Ser1948Ala)
c.8803T>G (p.Ser2935Ala)
c.8695T>G (p.Ser2899Ala)
c.8677T>G (p.Ser2893Ala)
c.5449T>G (p.Ser1817Ala)
c.3379T>G (p.Ser1127Ala)
c.8752T>G (p.Ser2918Ala)
c.8698T>G (p.Ser2900Ala)
c.8488T>G (p.Ser2830Ala)
c.8134T>G (p.Ser2712Ala)
c.6031T>G (p.Ser2011Ala)
n.8981T>G
c.8617T>G (p.Ser2873Ala)
c.7813T>G (p.Ser2605Ala)
c.7618T>G (p.Ser2540Ala)
n.8975T>G
n.9030T>G
5g.37125396A>GCA359499923CPLANE1n.1805T>C
c.8806T>C (p.Ser2936Pro)
n.667T>C
c.8644T>C (p.Ser2882Pro)
c.5818T>C (n.5818T>C)
n.3987T>C
n.342-3612T>C
c.5842T>C (p.Ser1948Pro)
c.8803T>C (p.Ser2935Pro)
c.8695T>C (p.Ser2899Pro)
c.8677T>C (p.Ser2893Pro)
c.5449T>C (p.Ser1817Pro)
c.3379T>C (p.Ser1127Pro)
c.8752T>C (p.Ser2918Pro)
c.8698T>C (p.Ser2900Pro)
c.8488T>C (p.Ser2830Pro)
c.8134T>C (p.Ser2712Pro)
c.6031T>C (p.Ser2011Pro)
n.8981T>C
c.8617T>C (p.Ser2873Pro)
c.7813T>C (p.Ser2605Pro)
c.7618T>C (p.Ser2540Pro)
n.8975T>C
n.9030T>C
 dbSNP gnomAD v3 gnomAD v4
5g.37125396A>TCA359499924CPLANE1n.1805T>A
c.8806T>A (p.Ser2936Thr)
n.667T>A
c.8644T>A (p.Ser2882Thr)
c.5818T>A (n.5818T>A)
n.3987T>A
n.342-3612T>A
c.5842T>A (p.Ser1948Thr)
c.8803T>A (p.Ser2935Thr)
c.8695T>A (p.Ser2899Thr)
c.8677T>A (p.Ser2893Thr)
c.5449T>A (p.Ser1817Thr)
c.3379T>A (p.Ser1127Thr)
c.8752T>A (p.Ser2918Thr)
c.8698T>A (p.Ser2900Thr)
c.8488T>A (p.Ser2830Thr)
c.8134T>A (p.Ser2712Thr)
c.6031T>A (p.Ser2011Thr)
n.8981T>A
c.8617T>A (p.Ser2873Thr)
c.7813T>A (p.Ser2605Thr)
c.7618T>A (p.Ser2540Thr)
n.8975T>A
n.9030T>A
5g.37125397A>CCA359499926CPLANE1n.1804T>G
c.8805T>G (p.Tyr2935Ter)
n.666T>G
c.8643T>G (p.Tyr2881Ter)
c.5817T>G (n.5817T>G)
n.3986T>G
n.342-3613T>G
c.5841T>G (p.Tyr1947Ter)
c.8802T>G (p.Tyr2934Ter)
c.8694T>G (p.Tyr2898Ter)
c.8676T>G (p.Tyr2892Ter)
c.5448T>G (p.Tyr1816Ter)
c.3378T>G (p.Tyr1126Ter)
c.8751T>G (p.Tyr2917Ter)
c.8697T>G (p.Tyr2899Ter)
c.8487T>G (p.Tyr2829Ter)
c.8133T>G (p.Tyr2711Ter)
c.6030T>G (p.Tyr2010Ter)
n.8980T>G
c.8616T>G (p.Tyr2872Ter)
c.7812T>G (p.Tyr2604Ter)
c.7617T>G (p.Tyr2539Ter)
n.8974T>G
n.9029T>G
5g.37125397A>GCA443922095CPLANE1n.1804T>C
c.8805T>C (p.Tyr2935=)
n.666T>C
c.8643T>C (p.Tyr2881=)
c.5817T>C (n.5817T>C)
n.3986T>C
n.342-3613T>C
c.5841T>C (p.Tyr1947=)
c.8802T>C (p.Tyr2934=)
c.8694T>C (p.Tyr2898=)
c.8676T>C (p.Tyr2892=)
c.5448T>C (p.Tyr1816=)
c.3378T>C (p.Tyr1126=)
c.8751T>C (p.Tyr2917=)
c.8697T>C (p.Tyr2899=)
c.8487T>C (p.Tyr2829=)
c.8133T>C (p.Tyr2711=)
c.6030T>C (p.Tyr2010=)
n.8980T>C
c.8616T>C (p.Tyr2872=)
c.7812T>C (p.Tyr2604=)
c.7617T>C (p.Tyr2539=)
n.8974T>C
n.9029T>C
5g.37125397A>TCA359499927CPLANE1n.1804T>A
c.8805T>A (p.Tyr2935Ter)
n.666T>A
c.8643T>A (p.Tyr2881Ter)
c.5817T>A (n.5817T>A)
n.3986T>A
n.342-3613T>A
c.5841T>A (p.Tyr1947Ter)
c.8802T>A (p.Tyr2934Ter)
c.8694T>A (p.Tyr2898Ter)
c.8676T>A (p.Tyr2892Ter)
c.5448T>A (p.Tyr1816Ter)
c.3378T>A (p.Tyr1126Ter)
c.8751T>A (p.Tyr2917Ter)
c.8697T>A (p.Tyr2899Ter)
c.8487T>A (p.Tyr2829Ter)
c.8133T>A (p.Tyr2711Ter)
c.6030T>A (p.Tyr2010Ter)
n.8980T>A
c.8616T>A (p.Tyr2872Ter)
c.7812T>A (p.Tyr2604Ter)
c.7617T>A (p.Tyr2539Ter)
n.8974T>A
n.9029T>A
5g.37125398T>ACA359499929CPLANE1n.1803A>T
c.8804A>T (p.Tyr2935Phe)
n.665A>T
c.8642A>T (p.Tyr2881Phe)
c.5816A>T (n.5816A>T)
n.3985A>T
n.342-3614A>T
c.5840A>T (p.Tyr1947Phe)
c.8801A>T (p.Tyr2934Phe)
c.8693A>T (p.Tyr2898Phe)
c.8675A>T (p.Tyr2892Phe)
c.5447A>T (p.Tyr1816Phe)
c.3377A>T (p.Tyr1126Phe)
c.8750A>T (p.Tyr2917Phe)
c.8696A>T (p.Tyr2899Phe)
c.8486A>T (p.Tyr2829Phe)
c.8132A>T (p.Tyr2711Phe)
c.6029A>T (p.Tyr2010Phe)
n.8979A>T
c.8615A>T (p.Tyr2872Phe)
c.7811A>T (p.Tyr2604Phe)
c.7616A>T (p.Tyr2539Phe)
n.8973A>T
n.9028A>T
5g.37125398T>CCA359499934CPLANE1n.1803A>G
c.8804A>G (p.Tyr2935Cys)
n.665A>G
c.8642A>G (p.Tyr2881Cys)
c.5816A>G (n.5816A>G)
n.3985A>G
n.342-3614A>G
c.5840A>G (p.Tyr1947Cys)
c.8801A>G (p.Tyr2934Cys)
c.8693A>G (p.Tyr2898Cys)
c.8675A>G (p.Tyr2892Cys)
c.5447A>G (p.Tyr1816Cys)
c.3377A>G (p.Tyr1126Cys)
c.8750A>G (p.Tyr2917Cys)
c.8696A>G (p.Tyr2899Cys)
c.8486A>G (p.Tyr2829Cys)
c.8132A>G (p.Tyr2711Cys)
c.6029A>G (p.Tyr2010Cys)
n.8979A>G
c.8615A>G (p.Tyr2872Cys)
c.7811A>G (p.Tyr2604Cys)
c.7616A>G (p.Tyr2539Cys)
n.8973A>G
n.9028A>G
5g.37125398T>GCA359499936CPLANE1n.1803A>C
c.8804A>C (p.Tyr2935Ser)
n.665A>C
c.8642A>C (p.Tyr2881Ser)
c.5816A>C (n.5816A>C)
n.3985A>C
n.342-3614A>C
c.5840A>C (p.Tyr1947Ser)
c.8801A>C (p.Tyr2934Ser)
c.8693A>C (p.Tyr2898Ser)
c.8675A>C (p.Tyr2892Ser)
c.5447A>C (p.Tyr1816Ser)
c.3377A>C (p.Tyr1126Ser)
c.8750A>C (p.Tyr2917Ser)
c.8696A>C (p.Tyr2899Ser)
c.8486A>C (p.Tyr2829Ser)
c.8132A>C (p.Tyr2711Ser)
c.6029A>C (p.Tyr2010Ser)
n.8979A>C
c.8615A>C (p.Tyr2872Ser)
c.7811A>C (p.Tyr2604Ser)
c.7616A>C (p.Tyr2539Ser)
n.8973A>C
n.9028A>C
5g.37125399A=CA1539667759CPLANE1n.1802T=
c.8803T= (p.Tyr2935=)
n.664T=
c.8641T= (p.Tyr2881=)
c.5815T= (n.5815T=)
n.3984T=
n.342-3615T=
c.5839T= (p.Tyr1947=)
c.8800T= (p.Tyr2934=)
c.8692T= (p.Tyr2898=)
c.8674T= (p.Tyr2892=)
c.5446T= (p.Tyr1816=)
c.3376T= (p.Tyr1126=)
c.8749T= (p.Tyr2917=)
c.8695T= (p.Tyr2899=)
c.8485T= (p.Tyr2829=)
c.8131T= (p.Tyr2711=)
c.6028T= (p.Tyr2010=)
n.8978T=
c.8614T= (p.Tyr2872=)
c.7810T= (p.Tyr2604=)
c.7615T= (p.Tyr2539=)
n.8972T=
n.9027T=
5g.37125399A>CCA359499940CPLANE1n.1802T>G
c.8803T>G (p.Tyr2935Asp)
n.664T>G
c.8641T>G (p.Tyr2881Asp)
c.5815T>G (n.5815T>G)
n.3984T>G
n.342-3615T>G
c.5839T>G (p.Tyr1947Asp)
c.8800T>G (p.Tyr2934Asp)
c.8692T>G (p.Tyr2898Asp)
c.8674T>G (p.Tyr2892Asp)
c.5446T>G (p.Tyr1816Asp)
c.3376T>G (p.Tyr1126Asp)
c.8749T>G (p.Tyr2917Asp)
c.8695T>G (p.Tyr2899Asp)
c.8485T>G (p.Tyr2829Asp)
c.8131T>G (p.Tyr2711Asp)
c.6028T>G (p.Tyr2010Asp)
n.8978T>G
c.8614T>G (p.Tyr2872Asp)
c.7810T>G (p.Tyr2604Asp)
c.7615T>G (p.Tyr2539Asp)
n.8972T>G
n.9027T>G
 dbSNP gnomAD v3 gnomAD v4
5g.37125399A>GCA359499944CPLANE1n.1802T>C
c.8803T>C (p.Tyr2935His)
n.664T>C
c.8641T>C (p.Tyr2881His)
c.5815T>C (n.5815T>C)
n.3984T>C
n.342-3615T>C
c.5839T>C (p.Tyr1947His)
c.8800T>C (p.Tyr2934His)
c.8692T>C (p.Tyr2898His)
c.8674T>C (p.Tyr2892His)
c.5446T>C (p.Tyr1816His)
c.3376T>C (p.Tyr1126His)
c.8749T>C (p.Tyr2917His)
c.8695T>C (p.Tyr2899His)
c.8485T>C (p.Tyr2829His)
c.8131T>C (p.Tyr2711His)
c.6028T>C (p.Tyr2010His)
n.8978T>C
c.8614T>C (p.Tyr2872His)
c.7810T>C (p.Tyr2604His)
c.7615T>C (p.Tyr2539His)
n.8972T>C
n.9027T>C
5g.37125399A>TCA359499949CPLANE1n.1802T>A
c.8803T>A (p.Tyr2935Asn)
n.664T>A
c.8641T>A (p.Tyr2881Asn)
c.5815T>A (n.5815T>A)
n.3984T>A
n.342-3615T>A
c.5839T>A (p.Tyr1947Asn)
c.8800T>A (p.Tyr2934Asn)
c.8692T>A (p.Tyr2898Asn)
c.8674T>A (p.Tyr2892Asn)
c.5446T>A (p.Tyr1816Asn)
c.3376T>A (p.Tyr1126Asn)
c.8749T>A (p.Tyr2917Asn)
c.8695T>A (p.Tyr2899Asn)
c.8485T>A (p.Tyr2829Asn)
c.8131T>A (p.Tyr2711Asn)
c.6028T>A (p.Tyr2010Asn)
n.8978T>A
c.8614T>A (p.Tyr2872Asn)
c.7810T>A (p.Tyr2604Asn)
c.7615T>A (p.Tyr2539Asn)
n.8972T>A
n.9027T>A
5g.37125400A>CCA359499951CPLANE1n.1801T>G
c.8802T>G (p.His2934Gln)
n.663T>G
c.8640T>G (p.His2880Gln)
c.5814T>G (n.5814T>G)
n.3983T>G
n.342-3616T>G
c.5838T>G (p.His1946Gln)
c.8799T>G (p.His2933Gln)
c.8691T>G (p.His2897Gln)
c.8673T>G (p.His2891Gln)
c.5445T>G (p.His1815Gln)
c.3375T>G (p.His1125Gln)
c.8748T>G (p.His2916Gln)
c.8694T>G (p.His2898Gln)
c.8484T>G (p.His2828Gln)
c.8130T>G (p.His2710Gln)
c.6027T>G (p.His2009Gln)
n.8977T>G
c.8613T>G (p.His2871Gln)
c.7809T>G (p.His2603Gln)
c.7614T>G (p.His2538Gln)
n.8971T>G
n.9026T>G
5g.37125400A>GCA443922097CPLANE1n.1801T>C
c.8802T>C (p.His2934=)
n.663T>C
c.8640T>C (p.His2880=)
c.5814T>C (n.5814T>C)
n.3983T>C
n.342-3616T>C
c.5838T>C (p.His1946=)
c.8799T>C (p.His2933=)
c.8691T>C (p.His2897=)
c.8673T>C (p.His2891=)
c.5445T>C (p.His1815=)
c.3375T>C (p.His1125=)
c.8748T>C (p.His2916=)
c.8694T>C (p.His2898=)
c.8484T>C (p.His2828=)
c.8130T>C (p.His2710=)
c.6027T>C (p.His2009=)
n.8977T>C
c.8613T>C (p.His2871=)
c.7809T>C (p.His2603=)
c.7614T>C (p.His2538=)
n.8971T>C
n.9026T>C
5g.37125400A>TCA359499952CPLANE1n.1801T>A
c.8802T>A (p.His2934Gln)
n.663T>A
c.8640T>A (p.His2880Gln)
c.5814T>A (n.5814T>A)
n.3983T>A
n.342-3616T>A
c.5838T>A (p.His1946Gln)
c.8799T>A (p.His2933Gln)
c.8691T>A (p.His2897Gln)
c.8673T>A (p.His2891Gln)
c.5445T>A (p.His1815Gln)
c.3375T>A (p.His1125Gln)
c.8748T>A (p.His2916Gln)
c.8694T>A (p.His2898Gln)
c.8484T>A (p.His2828Gln)
c.8130T>A (p.His2710Gln)
c.6027T>A (p.His2009Gln)
n.8977T>A
c.8613T>A (p.His2871Gln)
c.7809T>A (p.His2603Gln)
c.7614T>A (p.His2538Gln)
n.8971T>A
n.9026T>A
5g.37125401T>ACA117059284CPLANE1n.1800A>T
c.8801A>T (p.His2934Leu)
n.662A>T
c.8639A>T (p.His2880Leu)
c.5813A>T (n.5813A>T)
n.3982A>T
n.342-3617A>T
c.5837A>T (p.His1946Leu)
c.8798A>T (p.His2933Leu)
c.8690A>T (p.His2897Leu)
c.8672A>T (p.His2891Leu)
c.5444A>T (p.His1815Leu)
c.3374A>T (p.His1125Leu)
c.8747A>T (p.His2916Leu)
c.8693A>T (p.His2898Leu)
c.8483A>T (p.His2828Leu)
c.8129A>T (p.His2710Leu)
c.6026A>T (p.His2009Leu)
n.8976A>T
c.8612A>T (p.His2871Leu)
c.7808A>T (p.His2603Leu)
c.7613A>T (p.His2538Leu)
n.8970A>T
n.9025A>T
 dbSNP
5g.37125401T>CCA359499956CPLANE1n.1800A>G
c.8801A>G (p.His2934Arg)
n.662A>G
c.8639A>G (p.His2880Arg)
c.5813A>G (n.5813A>G)
n.3982A>G
n.342-3617A>G
c.5837A>G (p.His1946Arg)
c.8798A>G (p.His2933Arg)
c.8690A>G (p.His2897Arg)
c.8672A>G (p.His2891Arg)
c.5444A>G (p.His1815Arg)
c.3374A>G (p.His1125Arg)
c.8747A>G (p.His2916Arg)
c.8693A>G (p.His2898Arg)
c.8483A>G (p.His2828Arg)
c.8129A>G (p.His2710Arg)
c.6026A>G (p.His2009Arg)
n.8976A>G
c.8612A>G (p.His2871Arg)
c.7808A>G (p.His2603Arg)
c.7613A>G (p.His2538Arg)
n.8970A>G
n.9025A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.37125401T>GCA359499954CPLANE1n.1800A>C
c.8801A>C (p.His2934Pro)
n.662A>C
c.8639A>C (p.His2880Pro)
c.5813A>C (n.5813A>C)
n.3982A>C
n.342-3617A>C
c.5837A>C (p.His1946Pro)
c.8798A>C (p.His2933Pro)
c.8690A>C (p.His2897Pro)
c.8672A>C (p.His2891Pro)
c.5444A>C (p.His1815Pro)
c.3374A>C (p.His1125Pro)
c.8747A>C (p.His2916Pro)
c.8693A>C (p.His2898Pro)
c.8483A>C (p.His2828Pro)
c.8129A>C (p.His2710Pro)
c.6026A>C (p.His2009Pro)
n.8976A>C
c.8612A>C (p.His2871Pro)
c.7808A>C (p.His2603Pro)
c.7613A>C (p.His2538Pro)
n.8970A>C
n.9025A>C
5g.37125401T=CA1539667761CPLANE1n.1800A=
c.8801A= (p.His2934=)
n.662A=
c.8639A= (p.His2880=)
c.5813A= (n.5813A=)
n.3982A=
n.342-3617A=
c.5837A= (p.His1946=)
c.8798A= (p.His2933=)
c.8690A= (p.His2897=)
c.8672A= (p.His2891=)
c.5444A= (p.His1815=)
c.3374A= (p.His1125=)
c.8747A= (p.His2916=)
c.8693A= (p.His2898=)
c.8483A= (p.His2828=)
c.8129A= (p.His2710=)
c.6026A= (p.His2009=)
n.8976A=
c.8612A= (p.His2871=)
c.7808A= (p.His2603=)
c.7613A= (p.His2538=)
n.8970A=
n.9025A=
5g.37125402G>ACA359499962CPLANE1n.1799C>T
c.8800C>T (p.His2934Tyr)
n.661C>T
c.8638C>T (p.His2880Tyr)
c.5812C>T (n.5812C>T)
n.3981C>T
n.342-3618C>T
c.5836C>T (p.His1946Tyr)
c.8797C>T (p.His2933Tyr)
c.8689C>T (p.His2897Tyr)
c.8671C>T (p.His2891Tyr)
c.5443C>T (p.His1815Tyr)
c.3373C>T (p.His1125Tyr)
c.8746C>T (p.His2916Tyr)
c.8692C>T (p.His2898Tyr)
c.8482C>T (p.His2828Tyr)
c.8128C>T (p.His2710Tyr)
c.6025C>T (p.His2009Tyr)
n.8975C>T
c.8611C>T (p.His2871Tyr)
c.7807C>T (p.His2603Tyr)
c.7612C>T (p.His2538Tyr)
n.8969C>T
n.9024C>T
 gnomAD v4
5g.37125402G>CCA359499964CPLANE1n.1799C>G
c.8800C>G (p.His2934Asp)
n.661C>G
c.8638C>G (p.His2880Asp)
c.5812C>G (n.5812C>G)
n.3981C>G
n.342-3618C>G
c.5836C>G (p.His1946Asp)
c.8797C>G (p.His2933Asp)
c.8689C>G (p.His2897Asp)
c.8671C>G (p.His2891Asp)
c.5443C>G (p.His1815Asp)
c.3373C>G (p.His1125Asp)
c.8746C>G (p.His2916Asp)
c.8692C>G (p.His2898Asp)
c.8482C>G (p.His2828Asp)
c.8128C>G (p.His2710Asp)
c.6025C>G (p.His2009Asp)
n.8975C>G
c.8611C>G (p.His2871Asp)
c.7807C>G (p.His2603Asp)
c.7612C>G (p.His2538Asp)
n.8969C>G
n.9024C>G
5g.37125402G>TCA359499969CPLANE1n.1799C>A
c.8800C>A (p.His2934Asn)
n.661C>A
c.8638C>A (p.His2880Asn)
c.5812C>A (n.5812C>A)
n.3981C>A
n.342-3618C>A
c.5836C>A (p.His1946Asn)
c.8797C>A (p.His2933Asn)
c.8689C>A (p.His2897Asn)
c.8671C>A (p.His2891Asn)
c.5443C>A (p.His1815Asn)
c.3373C>A (p.His1125Asn)
c.8746C>A (p.His2916Asn)
c.8692C>A (p.His2898Asn)
c.8482C>A (p.His2828Asn)
c.8128C>A (p.His2710Asn)
c.6025C>A (p.His2009Asn)
n.8975C>A
c.8611C>A (p.His2871Asn)
c.7807C>A (p.His2603Asn)
c.7612C>A (p.His2538Asn)
n.8969C>A
n.9024C>A
 gnomAD v4
5g.37125403C>ACA359499972CPLANE1n.1798G>T
c.8799G>T (p.Gln2933His)
n.660G>T
c.8637G>T (p.Gln2879His)
c.5811G>T (n.5811G>T)
n.3980G>T
n.342-3619G>T
c.5835G>T (p.Gln1945His)
c.8796G>T (p.Gln2932His)
c.8688G>T (p.Gln2896His)
c.8670G>T (p.Gln2890His)
c.5442G>T (p.Gln1814His)
c.3372G>T (p.Gln1124His)
c.8745G>T (p.Gln2915His)
c.8691G>T (p.Gln2897His)
c.8481G>T (p.Gln2827His)
c.8127G>T (p.Gln2709His)
c.6024G>T (p.Gln2008His)
n.8974G>T
c.8610G>T (p.Gln2870His)
c.7806G>T (p.Gln2602His)
c.7611G>T (p.Gln2537His)
n.8968G>T
n.9023G>T
 gnomAD v4
5g.37125403C>GCA359499974CPLANE1n.1798G>C
c.8799G>C (p.Gln2933His)
n.660G>C
c.8637G>C (p.Gln2879His)
c.5811G>C (n.5811G>C)
n.3980G>C
n.342-3619G>C
c.5835G>C (p.Gln1945His)
c.8796G>C (p.Gln2932His)
c.8688G>C (p.Gln2896His)
c.8670G>C (p.Gln2890His)
c.5442G>C (p.Gln1814His)
c.3372G>C (p.Gln1124His)
c.8745G>C (p.Gln2915His)
c.8691G>C (p.Gln2897His)
c.8481G>C (p.Gln2827His)
c.8127G>C (p.Gln2709His)
c.6024G>C (p.Gln2008His)
n.8974G>C
c.8610G>C (p.Gln2870His)
c.7806G>C (p.Gln2602His)
c.7611G>C (p.Gln2537His)
n.8968G>C
n.9023G>C
 gnomAD v4
5g.37125403C>TCA443922101CPLANE1n.1798G>A
c.8799G>A (p.Gln2933=)
n.660G>A
c.8637G>A (p.Gln2879=)
c.5811G>A (n.5811G>A)
n.3980G>A
n.342-3619G>A
c.5835G>A (p.Gln1945=)
c.8796G>A (p.Gln2932=)
c.8688G>A (p.Gln2896=)
c.8670G>A (p.Gln2890=)
c.5442G>A (p.Gln1814=)
c.3372G>A (p.Gln1124=)
c.8745G>A (p.Gln2915=)
c.8691G>A (p.Gln2897=)
c.8481G>A (p.Gln2827=)
c.8127G>A (p.Gln2709=)
c.6024G>A (p.Gln2008=)
n.8974G>A
c.8610G>A (p.Gln2870=)
c.7806G>A (p.Gln2602=)
c.7611G>A (p.Gln2537=)
n.8968G>A
n.9023G>A
 gnomAD v4
5g.37125404T>ACA359499983CPLANE1n.1797A>T
c.8798A>T (p.Gln2933Leu)
n.659A>T
c.8636A>T (p.Gln2879Leu)
c.5810A>T (n.5810A>T)
n.3979A>T
n.342-3620A>T
c.5834A>T (p.Gln1945Leu)
c.8795A>T (p.Gln2932Leu)
c.8687A>T (p.Gln2896Leu)
c.8669A>T (p.Gln2890Leu)
c.5441A>T (p.Gln1814Leu)
c.3371A>T (p.Gln1124Leu)
c.8744A>T (p.Gln2915Leu)
c.8690A>T (p.Gln2897Leu)
c.8480A>T (p.Gln2827Leu)
c.8126A>T (p.Gln2709Leu)
c.6023A>T (p.Gln2008Leu)
n.8973A>T
c.8609A>T (p.Gln2870Leu)
c.7805A>T (p.Gln2602Leu)
c.7610A>T (p.Gln2537Leu)
n.8967A>T
n.9022A>T
5g.37125404T>CCA359499987CPLANE1n.1797A>G
c.8798A>G (p.Gln2933Arg)
n.659A>G
c.8636A>G (p.Gln2879Arg)
c.5810A>G (n.5810A>G)
n.3979A>G
n.342-3620A>G
c.5834A>G (p.Gln1945Arg)
c.8795A>G (p.Gln2932Arg)
c.8687A>G (p.Gln2896Arg)
c.8669A>G (p.Gln2890Arg)
c.5441A>G (p.Gln1814Arg)
c.3371A>G (p.Gln1124Arg)
c.8744A>G (p.Gln2915Arg)
c.8690A>G (p.Gln2897Arg)
c.8480A>G (p.Gln2827Arg)
c.8126A>G (p.Gln2709Arg)
c.6023A>G (p.Gln2008Arg)
n.8973A>G
c.8609A>G (p.Gln2870Arg)
c.7805A>G (p.Gln2602Arg)
c.7610A>G (p.Gln2537Arg)
n.8967A>G
n.9022A>G
 gnomAD v4
5g.37125404T>GCA359499990CPLANE1n.1797A>C
c.8798A>C (p.Gln2933Pro)
n.659A>C
c.8636A>C (p.Gln2879Pro)
c.5810A>C (n.5810A>C)
n.3979A>C
n.342-3620A>C
c.5834A>C (p.Gln1945Pro)
c.8795A>C (p.Gln2932Pro)
c.8687A>C (p.Gln2896Pro)
c.8669A>C (p.Gln2890Pro)
c.5441A>C (p.Gln1814Pro)
c.3371A>C (p.Gln1124Pro)
c.8744A>C (p.Gln2915Pro)
c.8690A>C (p.Gln2897Pro)
c.8480A>C (p.Gln2827Pro)
c.8126A>C (p.Gln2709Pro)
c.6023A>C (p.Gln2008Pro)
n.8973A>C
c.8609A>C (p.Gln2870Pro)
c.7805A>C (p.Gln2602Pro)
c.7610A>C (p.Gln2537Pro)
n.8967A>C
n.9022A>C
5g.37125405G>ACA359500004CPLANE1n.1796C>T
c.8797C>T (p.Gln2933Ter)
n.658C>T
c.8635C>T (p.Gln2879Ter)
c.5809C>T (n.5809C>T)
n.3978C>T
n.342-3621C>T
c.5833C>T (p.Gln1945Ter)
c.8794C>T (p.Gln2932Ter)
c.8686C>T (p.Gln2896Ter)
c.8668C>T (p.Gln2890Ter)
c.5440C>T (p.Gln1814Ter)
c.3370C>T (p.Gln1124Ter)
c.8743C>T (p.Gln2915Ter)
c.8689C>T (p.Gln2897Ter)
c.8479C>T (p.Gln2827Ter)
c.8125C>T (p.Gln2709Ter)
c.6022C>T (p.Gln2008Ter)
n.8972C>T
c.8608C>T (p.Gln2870Ter)
c.7804C>T (p.Gln2602Ter)
c.7609C>T (p.Gln2537Ter)
n.8966C>T
n.9021C>T
 dbSNP gnomAD v2 gnomAD v4
5g.37125405G>CCA359500008CPLANE1n.1796C>G
c.8797C>G (p.Gln2933Glu)
n.658C>G
c.8635C>G (p.Gln2879Glu)
c.5809C>G (n.5809C>G)
n.3978C>G
n.342-3621C>G
c.5833C>G (p.Gln1945Glu)
c.8794C>G (p.Gln2932Glu)
c.8686C>G (p.Gln2896Glu)
c.8668C>G (p.Gln2890Glu)
c.5440C>G (p.Gln1814Glu)
c.3370C>G (p.Gln1124Glu)
c.8743C>G (p.Gln2915Glu)
c.8689C>G (p.Gln2897Glu)
c.8479C>G (p.Gln2827Glu)
c.8125C>G (p.Gln2709Glu)
c.6022C>G (p.Gln2008Glu)
n.8972C>G
c.8608C>G (p.Gln2870Glu)
c.7804C>G (p.Gln2602Glu)
c.7609C>G (p.Gln2537Glu)
n.8966C>G
n.9021C>G
5g.37125405G=CA1539667766CPLANE1n.1796C=
c.8797C= (p.Gln2933=)
n.658C=
c.8635C= (p.Gln2879=)
c.5809C= (n.5809C=)
n.3978C=
n.342-3621C=
c.5833C= (p.Gln1945=)
c.8794C= (p.Gln2932=)
c.8686C= (p.Gln2896=)
c.8668C= (p.Gln2890=)
c.5440C= (p.Gln1814=)
c.3370C= (p.Gln1124=)
c.8743C= (p.Gln2915=)
c.8689C= (p.Gln2897=)
c.8479C= (p.Gln2827=)
c.8125C= (p.Gln2709=)
c.6022C= (p.Gln2008=)
n.8972C=
c.8608C= (p.Gln2870=)
c.7804C= (p.Gln2602=)
c.7609C= (p.Gln2537=)
n.8966C=
n.9021C=
5g.37125405G>TCA3237646CPLANE1n.1796C>A
c.8797C>A (p.Gln2933Lys)
n.658C>A
c.8635C>A (p.Gln2879Lys)
c.5809C>A (n.5809C>A)
n.3978C>A
n.342-3621C>A
c.5833C>A (p.Gln1945Lys)
c.8794C>A (p.Gln2932Lys)
c.8686C>A (p.Gln2896Lys)
c.8668C>A (p.Gln2890Lys)
c.5440C>A (p.Gln1814Lys)
c.3370C>A (p.Gln1124Lys)
c.8743C>A (p.Gln2915Lys)
c.8689C>A (p.Gln2897Lys)
c.8479C>A (p.Gln2827Lys)
c.8125C>A (p.Gln2709Lys)
c.6022C>A (p.Gln2008Lys)
n.8972C>A
c.8608C>A (p.Gln2870Lys)
c.7804C>A (p.Gln2602Lys)
c.7609C>A (p.Gln2537Lys)
n.8966C>A
n.9021C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37125406A=CA1539667771CPLANE1n.1795T=
c.8796T= (p.Ile2932=)
n.657T=
c.8634T= (p.Ile2878=)
c.5808T= (n.5808T=)
n.3977T=
n.342-3622T=
c.5832T= (p.Ile1944=)
c.8793T= (p.Ile2931=)
c.8685T= (p.Ile2895=)
c.8667T= (p.Ile2889=)
c.5439T= (p.Ile1813=)
c.3369T= (p.Ile1123=)
c.8742T= (p.Ile2914=)
c.8688T= (p.Ile2896=)
c.8478T= (p.Ile2826=)
c.8124T= (p.Ile2708=)
c.6021T= (p.Ile2007=)
n.8971T=
c.8607T= (p.Ile2869=)
c.7803T= (p.Ile2601=)
c.7608T= (p.Ile2536=)
n.8965T=
n.9020T=
5g.37125406A>CCA359500018CPLANE1n.1795T>G
c.8796T>G (p.Ile2932Met)
n.657T>G
c.8634T>G (p.Ile2878Met)
c.5808T>G (n.5808T>G)
n.3977T>G
n.342-3622T>G
c.5832T>G (p.Ile1944Met)
c.8793T>G (p.Ile2931Met)
c.8685T>G (p.Ile2895Met)
c.8667T>G (p.Ile2889Met)
c.5439T>G (p.Ile1813Met)
c.3369T>G (p.Ile1123Met)
c.8742T>G (p.Ile2914Met)
c.8688T>G (p.Ile2896Met)
c.8478T>G (p.Ile2826Met)
c.8124T>G (p.Ile2708Met)
c.6021T>G (p.Ile2007Met)
n.8971T>G
c.8607T>G (p.Ile2869Met)
c.7803T>G (p.Ile2601Met)
c.7608T>G (p.Ile2536Met)
n.8965T>G
n.9020T>G
5g.37125406A>GCA117059289CPLANE1n.1795T>C
c.8796T>C (p.Ile2932=)
n.657T>C
c.8634T>C (p.Ile2878=)
c.5808T>C (n.5808T>C)
n.3977T>C
n.342-3622T>C
c.5832T>C (p.Ile1944=)
c.8793T>C (p.Ile2931=)
c.8685T>C (p.Ile2895=)
c.8667T>C (p.Ile2889=)
c.5439T>C (p.Ile1813=)
c.3369T>C (p.Ile1123=)
c.8742T>C (p.Ile2914=)
c.8688T>C (p.Ile2896=)
c.8478T>C (p.Ile2826=)
c.8124T>C (p.Ile2708=)
c.6021T>C (p.Ile2007=)
n.8971T>C
c.8607T>C (p.Ile2869=)
c.7803T>C (p.Ile2601=)
c.7608T>C (p.Ile2536=)
n.8965T>C
n.9020T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37125406A>TCA443922104CPLANE1n.1795T>A
c.8796T>A (p.Ile2932=)
n.657T>A
c.8634T>A (p.Ile2878=)
c.5808T>A (n.5808T>A)
n.3977T>A
n.342-3622T>A
c.5832T>A (p.Ile1944=)
c.8793T>A (p.Ile2931=)
c.8685T>A (p.Ile2895=)
c.8667T>A (p.Ile2889=)
c.5439T>A (p.Ile1813=)
c.3369T>A (p.Ile1123=)
c.8742T>A (p.Ile2914=)
c.8688T>A (p.Ile2896=)
c.8478T>A (p.Ile2826=)
c.8124T>A (p.Ile2708=)
c.6021T>A (p.Ile2007=)
n.8971T>A
c.8607T>A (p.Ile2869=)
c.7803T>A (p.Ile2601=)
c.7608T>A (p.Ile2536=)
n.8965T>A
n.9020T>A
5g.37125407A>CCA359500035CPLANE1n.1794T>G
c.8795T>G (p.Ile2932Ser)
n.656T>G
c.8633T>G (p.Ile2878Ser)
c.5807T>G (n.5807T>G)
n.3976T>G
n.342-3623T>G
c.5831T>G (p.Ile1944Ser)
c.8792T>G (p.Ile2931Ser)
c.8684T>G (p.Ile2895Ser)
c.8666T>G (p.Ile2889Ser)
c.5438T>G (p.Ile1813Ser)
c.3368T>G (p.Ile1123Ser)
c.8741T>G (p.Ile2914Ser)
c.8687T>G (p.Ile2896Ser)
c.8477T>G (p.Ile2826Ser)
c.8123T>G (p.Ile2708Ser)
c.6020T>G (p.Ile2007Ser)
n.8970T>G
c.8606T>G (p.Ile2869Ser)
c.7802T>G (p.Ile2601Ser)
c.7607T>G (p.Ile2536Ser)
n.8964T>G
n.9019T>G
5g.37125407A>GCA359500036CPLANE1n.1794T>C
c.8795T>C (p.Ile2932Thr)
n.656T>C
c.8633T>C (p.Ile2878Thr)
c.5807T>C (n.5807T>C)
n.3976T>C
n.342-3623T>C
c.5831T>C (p.Ile1944Thr)
c.8792T>C (p.Ile2931Thr)
c.8684T>C (p.Ile2895Thr)
c.8666T>C (p.Ile2889Thr)
c.5438T>C (p.Ile1813Thr)
c.3368T>C (p.Ile1123Thr)
c.8741T>C (p.Ile2914Thr)
c.8687T>C (p.Ile2896Thr)
c.8477T>C (p.Ile2826Thr)
c.8123T>C (p.Ile2708Thr)
c.6020T>C (p.Ile2007Thr)
n.8970T>C
c.8606T>C (p.Ile2869Thr)
c.7802T>C (p.Ile2601Thr)
c.7607T>C (p.Ile2536Thr)
n.8964T>C
n.9019T>C
5g.37125407A>TCA359500028CPLANE1n.1794T>A
c.8795T>A (p.Ile2932Asn)
n.656T>A
c.8633T>A (p.Ile2878Asn)
c.5807T>A (n.5807T>A)
n.3976T>A
n.342-3623T>A
c.5831T>A (p.Ile1944Asn)
c.8792T>A (p.Ile2931Asn)
c.8684T>A (p.Ile2895Asn)
c.8666T>A (p.Ile2889Asn)
c.5438T>A (p.Ile1813Asn)
c.3368T>A (p.Ile1123Asn)
c.8741T>A (p.Ile2914Asn)
c.8687T>A (p.Ile2896Asn)
c.8477T>A (p.Ile2826Asn)
c.8123T>A (p.Ile2708Asn)
c.6020T>A (p.Ile2007Asn)
n.8970T>A
c.8606T>A (p.Ile2869Asn)
c.7802T>A (p.Ile2601Asn)
c.7607T>A (p.Ile2536Asn)
n.8964T>A
n.9019T>A
5g.37125408T>ACA359500037CPLANE1n.1793A>T
c.8794A>T (p.Ile2932Phe)
n.655A>T
c.8632A>T (p.Ile2878Phe)
c.5806A>T (n.5806A>T)
n.3975A>T
n.342-3624A>T
c.5830A>T (p.Ile1944Phe)
c.8791A>T (p.Ile2931Phe)
c.8683A>T (p.Ile2895Phe)
c.8665A>T (p.Ile2889Phe)
c.5437A>T (p.Ile1813Phe)
c.3367A>T (p.Ile1123Phe)
c.8740A>T (p.Ile2914Phe)
c.8686A>T (p.Ile2896Phe)
c.8476A>T (p.Ile2826Phe)
c.8122A>T (p.Ile2708Phe)
c.6019A>T (p.Ile2007Phe)
n.8969A>T
c.8605A>T (p.Ile2869Phe)
c.7801A>T (p.Ile2601Phe)
c.7606A>T (p.Ile2536Phe)
n.8963A>T
n.9018A>T
5g.37125408T>CCA359500038CPLANE1n.1793A>G
c.8794A>G (p.Ile2932Val)
n.655A>G
c.8632A>G (p.Ile2878Val)
c.5806A>G (n.5806A>G)
n.3975A>G
n.342-3624A>G
c.5830A>G (p.Ile1944Val)
c.8791A>G (p.Ile2931Val)
c.8683A>G (p.Ile2895Val)
c.8665A>G (p.Ile2889Val)
c.5437A>G (p.Ile1813Val)
c.3367A>G (p.Ile1123Val)
c.8740A>G (p.Ile2914Val)
c.8686A>G (p.Ile2896Val)
c.8476A>G (p.Ile2826Val)
c.8122A>G (p.Ile2708Val)
c.6019A>G (p.Ile2007Val)
n.8969A>G
c.8605A>G (p.Ile2869Val)
c.7801A>G (p.Ile2601Val)
c.7606A>G (p.Ile2536Val)
n.8963A>G
n.9018A>G
 gnomAD v4
5g.37125408T>GCA359500041CPLANE1n.1793A>C
c.8794A>C (p.Ile2932Leu)
n.655A>C
c.8632A>C (p.Ile2878Leu)
c.5806A>C (n.5806A>C)
n.3975A>C
n.342-3624A>C
c.5830A>C (p.Ile1944Leu)
c.8791A>C (p.Ile2931Leu)
c.8683A>C (p.Ile2895Leu)
c.8665A>C (p.Ile2889Leu)
c.5437A>C (p.Ile1813Leu)
c.3367A>C (p.Ile1123Leu)
c.8740A>C (p.Ile2914Leu)
c.8686A>C (p.Ile2896Leu)
c.8476A>C (p.Ile2826Leu)
c.8122A>C (p.Ile2708Leu)
c.6019A>C (p.Ile2007Leu)
n.8969A>C
c.8605A>C (p.Ile2869Leu)
c.7801A>C (p.Ile2601Leu)
c.7606A>C (p.Ile2536Leu)
n.8963A>C
n.9018A>C
5g.37125409T>ACA359500045CPLANE1n.1792A>T
c.8793A>T (p.Arg2931Ser)
n.654A>T
c.8631A>T (p.Arg2877Ser)
c.5805A>T (n.5805A>T)
n.3974A>T
n.342-3625A>T
c.5829A>T (p.Arg1943Ser)
c.8790A>T (p.Arg2930Ser)
c.8682A>T (p.Arg2894Ser)
c.8664A>T (p.Arg2888Ser)
c.5436A>T (p.Arg1812Ser)
c.3366A>T (p.Arg1122Ser)
c.8739A>T (p.Arg2913Ser)
c.8685A>T (p.Arg2895Ser)
c.8475A>T (p.Arg2825Ser)
c.8121A>T (p.Arg2707Ser)
c.6018A>T (p.Arg2006Ser)
n.8968A>T
c.8604A>T (p.Arg2868Ser)
c.7800A>T (p.Arg2600Ser)
c.7605A>T (p.Arg2535Ser)
n.8962A>T
n.9017A>T
5g.37125409T>CCA443922106CPLANE1n.1792A>G
c.8793A>G (p.Arg2931=)
n.654A>G
c.8631A>G (p.Arg2877=)
c.5805A>G (n.5805A>G)
n.3974A>G
n.342-3625A>G
c.5829A>G (p.Arg1943=)
c.8790A>G (p.Arg2930=)
c.8682A>G (p.Arg2894=)
c.8664A>G (p.Arg2888=)
c.5436A>G (p.Arg1812=)
c.3366A>G (p.Arg1122=)
c.8739A>G (p.Arg2913=)
c.8685A>G (p.Arg2895=)
c.8475A>G (p.Arg2825=)
c.8121A>G (p.Arg2707=)
c.6018A>G (p.Arg2006=)
n.8968A>G
c.8604A>G (p.Arg2868=)
c.7800A>G (p.Arg2600=)
c.7605A>G (p.Arg2535=)
n.8962A>G
n.9017A>G
5g.37125409T>GCA359500053CPLANE1n.1792A>C
c.8793A>C (p.Arg2931Ser)
n.654A>C
c.8631A>C (p.Arg2877Ser)
c.5805A>C (n.5805A>C)
n.3974A>C
n.342-3625A>C
c.5829A>C (p.Arg1943Ser)
c.8790A>C (p.Arg2930Ser)
c.8682A>C (p.Arg2894Ser)
c.8664A>C (p.Arg2888Ser)
c.5436A>C (p.Arg1812Ser)
c.3366A>C (p.Arg1122Ser)
c.8739A>C (p.Arg2913Ser)
c.8685A>C (p.Arg2895Ser)
c.8475A>C (p.Arg2825Ser)
c.8121A>C (p.Arg2707Ser)
c.6018A>C (p.Arg2006Ser)
n.8968A>C
c.8604A>C (p.Arg2868Ser)
c.7800A>C (p.Arg2600Ser)
c.7605A>C (p.Arg2535Ser)
n.8962A>C
n.9017A>C
5g.37125410C>ACA359500058CPLANE1n.1792-1G>T
c.8793-1G>T (n.8793-1G>T)
n.653G>T
c.8631-1G>T (n.8631-1G>T)
c.5804G>T (n.5804G>T)
n.3974-1G>T
n.342-3626G>T
c.5829-1G>T (n.5829-1G>T)
c.8790-1G>T (n.8790-1G>T)
c.8682-1G>T (n.8682-1G>T)
c.8664-1G>T (n.8664-1G>T)
c.5436-1G>T (n.5436-1G>T)
c.3366-1G>T (n.3366-1G>T)
c.8739-1G>T (n.8739-1G>T)
c.8685-1G>T (n.8685-1G>T)
c.8475-1G>T (n.8475-1G>T)
c.8121-1G>T (n.8121-1G>T)
c.6018-1G>T (n.6018-1G>T)
n.8968-1G>T
c.8604-1G>T (n.8604-1G>T)
c.7800-1G>T (n.7800-1G>T)
c.7605-1G>T (n.7605-1G>T)
n.8962-1G>T
n.9017-1G>T
 COSMIC COSMIC
5g.37125410C>GCA359500060CPLANE1n.1792-1G>C
c.8793-1G>C (n.8793-1G>C)
n.653G>C
c.8631-1G>C (n.8631-1G>C)
c.5804G>C (n.5804G>C)
n.3974-1G>C
n.342-3626G>C
c.5829-1G>C (n.5829-1G>C)
c.8790-1G>C (n.8790-1G>C)
c.8682-1G>C (n.8682-1G>C)
c.8664-1G>C (n.8664-1G>C)
c.5436-1G>C (n.5436-1G>C)
c.3366-1G>C (n.3366-1G>C)
c.8739-1G>C (n.8739-1G>C)
c.8685-1G>C (n.8685-1G>C)
c.8475-1G>C (n.8475-1G>C)
c.8121-1G>C (n.8121-1G>C)
c.6018-1G>C (n.6018-1G>C)
n.8968-1G>C
c.8604-1G>C (n.8604-1G>C)
c.7800-1G>C (n.7800-1G>C)
c.7605-1G>C (n.7605-1G>C)
n.8962-1G>C
n.9017-1G>C
5g.37125410C>TCA359500065CPLANE1n.1792-1G>A
c.8793-1G>A (n.8793-1G>A)
n.653G>A
c.8631-1G>A (n.8631-1G>A)
c.5804G>A (n.5804G>A)
n.3974-1G>A
n.342-3626G>A
c.5829-1G>A (n.5829-1G>A)
c.8790-1G>A (n.8790-1G>A)
c.8682-1G>A (n.8682-1G>A)
c.8664-1G>A (n.8664-1G>A)
c.5436-1G>A (n.5436-1G>A)
c.3366-1G>A (n.3366-1G>A)
c.8739-1G>A (n.8739-1G>A)
c.8685-1G>A (n.8685-1G>A)
c.8475-1G>A (n.8475-1G>A)
c.8121-1G>A (n.8121-1G>A)
c.6018-1G>A (n.6018-1G>A)
n.8968-1G>A
c.8604-1G>A (n.8604-1G>A)
c.7800-1G>A (n.7800-1G>A)
c.7605-1G>A (n.7605-1G>A)
n.8962-1G>A
n.9017-1G>A
5g.37125411T>ACA359500069CPLANE1n.1792-2A>T
c.8793-2A>T (n.8793-2A>T)
n.652A>T
c.8631-2A>T (n.8631-2A>T)
c.5803A>T (n.5803A>T)
n.3974-2A>T
n.342-3627A>T
c.5829-2A>T (n.5829-2A>T)
c.8790-2A>T (n.8790-2A>T)
c.8682-2A>T (n.8682-2A>T)
c.8664-2A>T (n.8664-2A>T)
c.5436-2A>T (n.5436-2A>T)
c.3366-2A>T (n.3366-2A>T)
c.8739-2A>T (n.8739-2A>T)
c.8685-2A>T (n.8685-2A>T)
c.8475-2A>T (n.8475-2A>T)
c.8121-2A>T (n.8121-2A>T)
c.6018-2A>T (n.6018-2A>T)
n.8968-2A>T
c.8604-2A>T (n.8604-2A>T)
c.7800-2A>T (n.7800-2A>T)
c.7605-2A>T (n.7605-2A>T)
n.8962-2A>T
n.9017-2A>T
5g.37125411T>CCA359500070CPLANE1n.1792-2A>G
c.8793-2A>G (n.8793-2A>G)
n.652A>G
c.8631-2A>G (n.8631-2A>G)
c.5803A>G (n.5803A>G)
n.3974-2A>G
n.342-3627A>G
c.5829-2A>G (n.5829-2A>G)
c.8790-2A>G (n.8790-2A>G)
c.8682-2A>G (n.8682-2A>G)
c.8664-2A>G (n.8664-2A>G)
c.5436-2A>G (n.5436-2A>G)
c.3366-2A>G (n.3366-2A>G)
c.8739-2A>G (n.8739-2A>G)
c.8685-2A>G (n.8685-2A>G)
c.8475-2A>G (n.8475-2A>G)
c.8121-2A>G (n.8121-2A>G)
c.6018-2A>G (n.6018-2A>G)
n.8968-2A>G
c.8604-2A>G (n.8604-2A>G)
c.7800-2A>G (n.7800-2A>G)
c.7605-2A>G (n.7605-2A>G)
n.8962-2A>G
n.9017-2A>G
 gnomAD v4
5g.37125411T>GCA359500071CPLANE1n.1792-2A>C
c.8793-2A>C (n.8793-2A>C)
n.652A>C
c.8631-2A>C (n.8631-2A>C)
c.5803A>C (n.5803A>C)
n.3974-2A>C
n.342-3627A>C
c.5829-2A>C (n.5829-2A>C)
c.8790-2A>C (n.8790-2A>C)
c.8682-2A>C (n.8682-2A>C)
c.8664-2A>C (n.8664-2A>C)
c.5436-2A>C (n.5436-2A>C)
c.3366-2A>C (n.3366-2A>C)
c.8739-2A>C (n.8739-2A>C)
c.8685-2A>C (n.8685-2A>C)
c.8475-2A>C (n.8475-2A>C)
c.8121-2A>C (n.8121-2A>C)
c.6018-2A>C (n.6018-2A>C)
n.8968-2A>C
c.8604-2A>C (n.8604-2A>C)
c.7800-2A>C (n.7800-2A>C)
c.7605-2A>C (n.7605-2A>C)
n.8962-2A>C
n.9017-2A>C
5g.37125412G>ACA2578290403CPLANE1n.1792-3C>T
c.8793-3C>T (n.8793-3C>T)
n.651C>T
c.8631-3C>T (n.8631-3C>T)
c.5802C>T (n.5802C>T)
n.3974-3C>T
n.342-3628C>T
c.5829-3C>T (n.5829-3C>T)
c.8790-3C>T (n.8790-3C>T)
c.8682-3C>T (n.8682-3C>T)
c.8664-3C>T (n.8664-3C>T)
c.5436-3C>T (n.5436-3C>T)
c.3366-3C>T (n.3366-3C>T)
c.8739-3C>T (n.8739-3C>T)
c.8685-3C>T (n.8685-3C>T)
c.8475-3C>T (n.8475-3C>T)
c.8121-3C>T (n.8121-3C>T)
c.6018-3C>T (n.6018-3C>T)
n.8968-3C>T
c.8604-3C>T (n.8604-3C>T)
c.7800-3C>T (n.7800-3C>T)
c.7605-3C>T (n.7605-3C>T)
n.8962-3C>T
n.9017-3C>T
5g.37125414G>ACA1539667775CPLANE1n.1792-5C>T
c.8793-5C>T (n.8793-5C>T)
n.649C>T
c.8631-5C>T (n.8631-5C>T)
c.5800C>T (n.5800C>T)
n.3974-5C>T
n.342-3630C>T
c.5829-5C>T (n.5829-5C>T)
c.8790-5C>T (n.8790-5C>T)
c.8682-5C>T (n.8682-5C>T)
c.8664-5C>T (n.8664-5C>T)
c.5436-5C>T (n.5436-5C>T)
c.3366-5C>T (n.3366-5C>T)
c.8739-5C>T (n.8739-5C>T)
c.8685-5C>T (n.8685-5C>T)
c.8475-5C>T (n.8475-5C>T)
c.8121-5C>T (n.8121-5C>T)
c.6018-5C>T (n.6018-5C>T)
n.8968-5C>T
c.8604-5C>T (n.8604-5C>T)
c.7800-5C>T (n.7800-5C>T)
c.7605-5C>T (n.7605-5C>T)
n.8962-5C>T
n.9017-5C>T
 dbSNP
5g.37125414G=CA1539667773CPLANE1n.1792-5C=
c.8793-5C= (n.8793-5C=)
n.649C=
c.8631-5C= (n.8631-5C=)
c.5800C= (n.5800C=)
n.3974-5C=
n.342-3630C=
c.5829-5C= (n.5829-5C=)
c.8790-5C= (n.8790-5C=)
c.8682-5C= (n.8682-5C=)
c.8664-5C= (n.8664-5C=)
c.5436-5C= (n.5436-5C=)
c.3366-5C= (n.3366-5C=)
c.8739-5C= (n.8739-5C=)
c.8685-5C= (n.8685-5C=)
c.8475-5C= (n.8475-5C=)
c.8121-5C= (n.8121-5C=)
c.6018-5C= (n.6018-5C=)
n.8968-5C=
c.8604-5C= (n.8604-5C=)
c.7800-5C= (n.7800-5C=)
c.7605-5C= (n.7605-5C=)
n.8962-5C=
n.9017-5C=
5g.37125414G>TCA1539667774CPLANE1n.1792-5C>A
c.8793-5C>A (n.8793-5C>A)
n.649C>A
c.8631-5C>A (n.8631-5C>A)
c.5800C>A (n.5800C>A)
n.3974-5C>A
n.342-3630C>A
c.5829-5C>A (n.5829-5C>A)
c.8790-5C>A (n.8790-5C>A)
c.8682-5C>A (n.8682-5C>A)
c.8664-5C>A (n.8664-5C>A)
c.5436-5C>A (n.5436-5C>A)
c.3366-5C>A (n.3366-5C>A)
c.8739-5C>A (n.8739-5C>A)
c.8685-5C>A (n.8685-5C>A)
c.8475-5C>A (n.8475-5C>A)
c.8121-5C>A (n.8121-5C>A)
c.6018-5C>A (n.6018-5C>A)
n.8968-5C>A
c.8604-5C>A (n.8604-5C>A)
c.7800-5C>A (n.7800-5C>A)
c.7605-5C>A (n.7605-5C>A)
n.8962-5C>A
n.9017-5C>A
 dbSNP
5g.37125416A>CCA2673580100CPLANE1n.1792-7T>G
c.8793-7T>G (n.8793-7T>G)
n.647T>G
c.8631-7T>G (n.8631-7T>G)
c.5798T>G (n.5798T>G)
n.3974-7T>G
n.342-3632T>G
c.5829-7T>G (n.5829-7T>G)
c.8790-7T>G (n.8790-7T>G)
c.8682-7T>G (n.8682-7T>G)
c.8664-7T>G (n.8664-7T>G)
c.5436-7T>G (n.5436-7T>G)
c.3366-7T>G (n.3366-7T>G)
c.8739-7T>G (n.8739-7T>G)
c.8685-7T>G (n.8685-7T>G)
c.8475-7T>G (n.8475-7T>G)
c.8121-7T>G (n.8121-7T>G)
c.6018-7T>G (n.6018-7T>G)
n.8968-7T>G
c.8604-7T>G (n.8604-7T>G)
c.7800-7T>G (n.7800-7T>G)
c.7605-7T>G (n.7605-7T>G)
n.8962-7T>G
n.9017-7T>G
 gnomAD v4
5g.37125418T>CCA810293748CPLANE1n.1792-9A>G
c.8793-9A>G (n.8793-9A>G)
n.645A>G
c.8631-9A>G (n.8631-9A>G)
c.5796A>G (n.5796A>G)
n.3974-9A>G
n.342-3634A>G
c.5829-9A>G (n.5829-9A>G)
c.8790-9A>G (n.8790-9A>G)
c.8682-9A>G (n.8682-9A>G)
c.8664-9A>G (n.8664-9A>G)
c.5436-9A>G (n.5436-9A>G)
c.3366-9A>G (n.3366-9A>G)
c.8739-9A>G (n.8739-9A>G)
c.8685-9A>G (n.8685-9A>G)
c.8475-9A>G (n.8475-9A>G)
c.8121-9A>G (n.8121-9A>G)
c.6018-9A>G (n.6018-9A>G)
n.8968-9A>G
c.8604-9A>G (n.8604-9A>G)
c.7800-9A>G (n.7800-9A>G)
c.7605-9A>G (n.7605-9A>G)
n.8962-9A>G
n.9017-9A>G
 ClinVar dbSNP gnomAD v4
5g.37125418T=CA1539667776CPLANE1n.1792-9A=
c.8793-9A= (n.8793-9A=)
n.645A=
c.8631-9A= (n.8631-9A=)
c.5796A= (n.5796A=)
n.3974-9A=
n.342-3634A=
c.5829-9A= (n.5829-9A=)
c.8790-9A= (n.8790-9A=)
c.8682-9A= (n.8682-9A=)
c.8664-9A= (n.8664-9A=)
c.5436-9A= (n.5436-9A=)
c.3366-9A= (n.3366-9A=)
c.8739-9A= (n.8739-9A=)
c.8685-9A= (n.8685-9A=)
c.8475-9A= (n.8475-9A=)
c.8121-9A= (n.8121-9A=)
c.6018-9A= (n.6018-9A=)
n.8968-9A=
c.8604-9A= (n.8604-9A=)
c.7800-9A= (n.7800-9A=)
c.7605-9A= (n.7605-9A=)
n.8962-9A=
n.9017-9A=
5g.37125419T>CCA2673580101CPLANE1n.1792-10A>G
c.8793-10A>G (n.8793-10A>G)
n.644A>G
c.8631-10A>G (n.8631-10A>G)
c.5795A>G (n.5795A>G)
n.3974-10A>G
n.342-3635A>G
c.5829-10A>G (n.5829-10A>G)
c.8790-10A>G (n.8790-10A>G)
c.8682-10A>G (n.8682-10A>G)
c.8664-10A>G (n.8664-10A>G)
c.5436-10A>G (n.5436-10A>G)
c.3366-10A>G (n.3366-10A>G)
c.8739-10A>G (n.8739-10A>G)
c.8685-10A>G (n.8685-10A>G)
c.8475-10A>G (n.8475-10A>G)
c.8121-10A>G (n.8121-10A>G)
c.6018-10A>G (n.6018-10A>G)
n.8968-10A>G
c.8604-10A>G (n.8604-10A>G)
c.7800-10A>G (n.7800-10A>G)
c.7605-10A>G (n.7605-10A>G)
n.8962-10A>G
n.9017-10A>G
 gnomAD v4
5g.37125419T>GCA3237647CPLANE1n.1792-10A>C
c.8793-10A>C (n.8793-10A>C)
n.644A>C
c.8631-10A>C (n.8631-10A>C)
c.5795A>C (n.5795A>C)
n.3974-10A>C
n.342-3635A>C
c.5829-10A>C (n.5829-10A>C)
c.8790-10A>C (n.8790-10A>C)
c.8682-10A>C (n.8682-10A>C)
c.8664-10A>C (n.8664-10A>C)
c.5436-10A>C (n.5436-10A>C)
c.3366-10A>C (n.3366-10A>C)
c.8739-10A>C (n.8739-10A>C)
c.8685-10A>C (n.8685-10A>C)
c.8475-10A>C (n.8475-10A>C)
c.8121-10A>C (n.8121-10A>C)
c.6018-10A>C (n.6018-10A>C)
n.8968-10A>C
c.8604-10A>C (n.8604-10A>C)
c.7800-10A>C (n.7800-10A>C)
c.7605-10A>C (n.7605-10A>C)
n.8962-10A>C
n.9017-10A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37125419T=CA1539667779CPLANE1n.1792-10A=
c.8793-10A= (n.8793-10A=)
n.644A=
c.8631-10A= (n.8631-10A=)
c.5795A= (n.5795A=)
n.3974-10A=
n.342-3635A=
c.5829-10A= (n.5829-10A=)
c.8790-10A= (n.8790-10A=)
c.8682-10A= (n.8682-10A=)
c.8664-10A= (n.8664-10A=)
c.5436-10A= (n.5436-10A=)
c.3366-10A= (n.3366-10A=)
c.8739-10A= (n.8739-10A=)
c.8685-10A= (n.8685-10A=)
c.8475-10A= (n.8475-10A=)
c.8121-10A= (n.8121-10A=)
c.6018-10A= (n.6018-10A=)
n.8968-10A=
c.8604-10A= (n.8604-10A=)
c.7800-10A= (n.7800-10A=)
c.7605-10A= (n.7605-10A=)
n.8962-10A=
n.9017-10A=
5g.37125423C>ACA559295432CPLANE1n.1792-14G>T
c.8793-14G>T (n.8793-14G>T)
n.640G>T
c.8631-14G>T (n.8631-14G>T)
c.5791G>T (n.5791G>T)
n.3974-14G>T
n.342-3639G>T
c.5829-14G>T (n.5829-14G>T)
c.8790-14G>T (n.8790-14G>T)
c.8682-14G>T (n.8682-14G>T)
c.8664-14G>T (n.8664-14G>T)
c.5436-14G>T (n.5436-14G>T)
c.3366-14G>T (n.3366-14G>T)
c.8739-14G>T (n.8739-14G>T)
c.8685-14G>T (n.8685-14G>T)
c.8475-14G>T (n.8475-14G>T)
c.8121-14G>T (n.8121-14G>T)
c.6018-14G>T (n.6018-14G>T)
n.8968-14G>T
c.8604-14G>T (n.8604-14G>T)
c.7800-14G>T (n.7800-14G>T)
c.7605-14G>T (n.7605-14G>T)
n.8962-14G>T
n.9017-14G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37125423C=CA1539667785CPLANE1n.1792-14G=
c.8793-14G= (n.8793-14G=)
n.640G=
c.8631-14G= (n.8631-14G=)
c.5791G= (n.5791G=)
n.3974-14G=
n.342-3639G=
c.5829-14G= (n.5829-14G=)
c.8790-14G= (n.8790-14G=)
c.8682-14G= (n.8682-14G=)
c.8664-14G= (n.8664-14G=)
c.5436-14G= (n.5436-14G=)
c.3366-14G= (n.3366-14G=)
c.8739-14G= (n.8739-14G=)
c.8685-14G= (n.8685-14G=)
c.8475-14G= (n.8475-14G=)
c.8121-14G= (n.8121-14G=)
c.6018-14G= (n.6018-14G=)
n.8968-14G=
c.8604-14G= (n.8604-14G=)
c.7800-14G= (n.7800-14G=)
c.7605-14G= (n.7605-14G=)
n.8962-14G=
n.9017-14G=
5g.37125423C>TCA559295433CPLANE1n.1792-14G>A
c.8793-14G>A (n.8793-14G>A)
n.640G>A
c.8631-14G>A (n.8631-14G>A)
c.5791G>A (n.5791G>A)
n.3974-14G>A
n.342-3639G>A
c.5829-14G>A (n.5829-14G>A)
c.8790-14G>A (n.8790-14G>A)
c.8682-14G>A (n.8682-14G>A)
c.8664-14G>A (n.8664-14G>A)
c.5436-14G>A (n.5436-14G>A)
c.3366-14G>A (n.3366-14G>A)
c.8739-14G>A (n.8739-14G>A)
c.8685-14G>A (n.8685-14G>A)
c.8475-14G>A (n.8475-14G>A)
c.8121-14G>A (n.8121-14G>A)
c.6018-14G>A (n.6018-14G>A)
n.8968-14G>A
c.8604-14G>A (n.8604-14G>A)
c.7800-14G>A (n.7800-14G>A)
c.7605-14G>A (n.7605-14G>A)
n.8962-14G>A
n.9017-14G>A
 dbSNP gnomAD v2 gnomAD v4
5g.37125425A>GCA2673580102CPLANE1n.1792-16T>C
c.8793-16T>C (n.8793-16T>C)
n.638T>C
c.8631-16T>C (n.8631-16T>C)
c.5789T>C (n.5789T>C)
n.3974-16T>C
n.342-3641T>C
c.5829-16T>C (n.5829-16T>C)
c.8790-16T>C (n.8790-16T>C)
c.8682-16T>C (n.8682-16T>C)
c.8664-16T>C (n.8664-16T>C)
c.5436-16T>C (n.5436-16T>C)
c.3366-16T>C (n.3366-16T>C)
c.8739-16T>C (n.8739-16T>C)
c.8685-16T>C (n.8685-16T>C)
c.8475-16T>C (n.8475-16T>C)
c.8121-16T>C (n.8121-16T>C)
c.6018-16T>C (n.6018-16T>C)
n.8968-16T>C
c.8604-16T>C (n.8604-16T>C)
c.7800-16T>C (n.7800-16T>C)
c.7605-16T>C (n.7605-16T>C)
n.8962-16T>C
n.9017-16T>C
 gnomAD v4
5g.37125426G>ACA1539667788CPLANE1n.1792-17C>T
c.8793-17C>T (n.8793-17C>T)
n.637C>T
c.8631-17C>T (n.8631-17C>T)
c.5788C>T (n.5788C>T)
n.3974-17C>T
n.342-3642C>T
c.5829-17C>T (n.5829-17C>T)
c.8790-17C>T (n.8790-17C>T)
c.8682-17C>T (n.8682-17C>T)
c.8664-17C>T (n.8664-17C>T)
c.5436-17C>T (n.5436-17C>T)
c.3366-17C>T (n.3366-17C>T)
c.8739-17C>T (n.8739-17C>T)
c.8685-17C>T (n.8685-17C>T)
c.8475-17C>T (n.8475-17C>T)
c.8121-17C>T (n.8121-17C>T)
c.6018-17C>T (n.6018-17C>T)
n.8968-17C>T
c.8604-17C>T (n.8604-17C>T)
c.7800-17C>T (n.7800-17C>T)
c.7605-17C>T (n.7605-17C>T)
n.8962-17C>T
n.9017-17C>T
 dbSNP gnomAD v4
5g.37125426G=CA1539667790CPLANE1n.1792-17C=
c.8793-17C= (n.8793-17C=)
n.637C=
c.8631-17C= (n.8631-17C=)
c.5788C= (n.5788C=)
n.3974-17C=
n.342-3642C=
c.5829-17C= (n.5829-17C=)
c.8790-17C= (n.8790-17C=)
c.8682-17C= (n.8682-17C=)
c.8664-17C= (n.8664-17C=)
c.5436-17C= (n.5436-17C=)
c.3366-17C= (n.3366-17C=)
c.8739-17C= (n.8739-17C=)
c.8685-17C= (n.8685-17C=)
c.8475-17C= (n.8475-17C=)
c.8121-17C= (n.8121-17C=)
c.6018-17C= (n.6018-17C=)
n.8968-17C=
c.8604-17C= (n.8604-17C=)
c.7800-17C= (n.7800-17C=)
c.7605-17C= (n.7605-17C=)
n.8962-17C=
n.9017-17C=
5g.37125426G>TCA2580073230CPLANE1n.1792-17C>A
c.8793-17C>A (n.8793-17C>A)
n.637C>A
c.8631-17C>A (n.8631-17C>A)
c.5788C>A (n.5788C>A)
n.3974-17C>A
n.342-3642C>A
c.5829-17C>A (n.5829-17C>A)
c.8790-17C>A (n.8790-17C>A)
c.8682-17C>A (n.8682-17C>A)
c.8664-17C>A (n.8664-17C>A)
c.5436-17C>A (n.5436-17C>A)
c.3366-17C>A (n.3366-17C>A)
c.8739-17C>A (n.8739-17C>A)
c.8685-17C>A (n.8685-17C>A)
c.8475-17C>A (n.8475-17C>A)
c.8121-17C>A (n.8121-17C>A)
c.6018-17C>A (n.6018-17C>A)
n.8968-17C>A
c.8604-17C>A (n.8604-17C>A)
c.7800-17C>A (n.7800-17C>A)
c.7605-17C>A (n.7605-17C>A)
n.8962-17C>A
n.9017-17C>A
 ClinVar
5g.37125427C>ACA2673580103CPLANE1n.1792-18G>T
c.8793-18G>T (n.8793-18G>T)
n.636G>T
c.8631-18G>T (n.8631-18G>T)
c.5787G>T (n.5787G>T)
n.3974-18G>T
n.342-3643G>T
c.5829-18G>T (n.5829-18G>T)
c.8790-18G>T (n.8790-18G>T)
c.8682-18G>T (n.8682-18G>T)
c.8664-18G>T (n.8664-18G>T)
c.5436-18G>T (n.5436-18G>T)
c.3366-18G>T (n.3366-18G>T)
c.8739-18G>T (n.8739-18G>T)
c.8685-18G>T (n.8685-18G>T)
c.8475-18G>T (n.8475-18G>T)
c.8121-18G>T (n.8121-18G>T)
c.6018-18G>T (n.6018-18G>T)
n.8968-18G>T
c.8604-18G>T (n.8604-18G>T)
c.7800-18G>T (n.7800-18G>T)
c.7605-18G>T (n.7605-18G>T)
n.8962-18G>T
n.9017-18G>T
 gnomAD v4
5g.37125427C=CA1539667791CPLANE1n.1792-18G=
c.8793-18G= (n.8793-18G=)
n.636G=
c.8631-18G= (n.8631-18G=)
c.5787G= (n.5787G=)
n.3974-18G=
n.342-3643G=
c.5829-18G= (n.5829-18G=)
c.8790-18G= (n.8790-18G=)
c.8682-18G= (n.8682-18G=)
c.8664-18G= (n.8664-18G=)
c.5436-18G= (n.5436-18G=)
c.3366-18G= (n.3366-18G=)
c.8739-18G= (n.8739-18G=)
c.8685-18G= (n.8685-18G=)
c.8475-18G= (n.8475-18G=)
c.8121-18G= (n.8121-18G=)
c.6018-18G= (n.6018-18G=)
n.8968-18G=
c.8604-18G= (n.8604-18G=)
c.7800-18G= (n.7800-18G=)
c.7605-18G= (n.7605-18G=)
n.8962-18G=
n.9017-18G=
5g.37125427C>GCA2673580104CPLANE1n.1792-18G>C
c.8793-18G>C (n.8793-18G>C)
n.636G>C
c.8631-18G>C (n.8631-18G>C)
c.5787G>C (n.5787G>C)
n.3974-18G>C
n.342-3643G>C
c.5829-18G>C (n.5829-18G>C)
c.8790-18G>C (n.8790-18G>C)
c.8682-18G>C (n.8682-18G>C)
c.8664-18G>C (n.8664-18G>C)
c.5436-18G>C (n.5436-18G>C)
c.3366-18G>C (n.3366-18G>C)
c.8739-18G>C (n.8739-18G>C)
c.8685-18G>C (n.8685-18G>C)
c.8475-18G>C (n.8475-18G>C)
c.8121-18G>C (n.8121-18G>C)
c.6018-18G>C (n.6018-18G>C)
n.8968-18G>C
c.8604-18G>C (n.8604-18G>C)
c.7800-18G>C (n.7800-18G>C)
c.7605-18G>C (n.7605-18G>C)
n.8962-18G>C
n.9017-18G>C
 gnomAD v4
5g.37125427C>TCA559295434CPLANE1n.1792-18G>A
c.8793-18G>A (n.8793-18G>A)
n.636G>A
c.8631-18G>A (n.8631-18G>A)
c.5787G>A (n.5787G>A)
n.3974-18G>A
n.342-3643G>A
c.5829-18G>A (n.5829-18G>A)
c.8790-18G>A (n.8790-18G>A)
c.8682-18G>A (n.8682-18G>A)
c.8664-18G>A (n.8664-18G>A)
c.5436-18G>A (n.5436-18G>A)
c.3366-18G>A (n.3366-18G>A)
c.8739-18G>A (n.8739-18G>A)
c.8685-18G>A (n.8685-18G>A)
c.8475-18G>A (n.8475-18G>A)
c.8121-18G>A (n.8121-18G>A)
c.6018-18G>A (n.6018-18G>A)
n.8968-18G>A
c.8604-18G>A (n.8604-18G>A)
c.7800-18G>A (n.7800-18G>A)
c.7605-18G>A (n.7605-18G>A)
n.8962-18G>A
n.9017-18G>A
 dbSNP gnomAD v2 gnomAD v4
5g.37125428A=CA1539667795CPLANE1n.1792-19T=
c.8793-19T= (n.8793-19T=)
n.635T=
c.8631-19T= (n.8631-19T=)
c.5786T= (n.5786T=)
n.3974-19T=
n.342-3644T=
c.5829-19T= (n.5829-19T=)
c.8790-19T= (n.8790-19T=)
c.8682-19T= (n.8682-19T=)
c.8664-19T= (n.8664-19T=)
c.5436-19T= (n.5436-19T=)
c.3366-19T= (n.3366-19T=)
c.8739-19T= (n.8739-19T=)
c.8685-19T= (n.8685-19T=)
c.8475-19T= (n.8475-19T=)
c.8121-19T= (n.8121-19T=)
c.6018-19T= (n.6018-19T=)
n.8968-19T=
c.8604-19T= (n.8604-19T=)
c.7800-19T= (n.7800-19T=)
c.7605-19T= (n.7605-19T=)
n.8962-19T=
n.9017-19T=
5g.37125428A>CCA117059298CPLANE1n.1792-19T>G
c.8793-19T>G (n.8793-19T>G)
n.635T>G
c.8631-19T>G (n.8631-19T>G)
c.5786T>G (n.5786T>G)
n.3974-19T>G
n.342-3644T>G
c.5829-19T>G (n.5829-19T>G)
c.8790-19T>G (n.8790-19T>G)
c.8682-19T>G (n.8682-19T>G)
c.8664-19T>G (n.8664-19T>G)
c.5436-19T>G (n.5436-19T>G)
c.3366-19T>G (n.3366-19T>G)
c.8739-19T>G (n.8739-19T>G)
c.8685-19T>G (n.8685-19T>G)
c.8475-19T>G (n.8475-19T>G)
c.8121-19T>G (n.8121-19T>G)
c.6018-19T>G (n.6018-19T>G)
n.8968-19T>G
c.8604-19T>G (n.8604-19T>G)
c.7800-19T>G (n.7800-19T>G)
c.7605-19T>G (n.7605-19T>G)
n.8962-19T>G
n.9017-19T>G
 dbSNP gnomAD v4
5g.37125428A>GCA2673580105CPLANE1n.1792-19T>C
c.8793-19T>C (n.8793-19T>C)
n.635T>C
c.8631-19T>C (n.8631-19T>C)
c.5786T>C (n.5786T>C)
n.3974-19T>C
n.342-3644T>C
c.5829-19T>C (n.5829-19T>C)
c.8790-19T>C (n.8790-19T>C)
c.8682-19T>C (n.8682-19T>C)
c.8664-19T>C (n.8664-19T>C)
c.5436-19T>C (n.5436-19T>C)
c.3366-19T>C (n.3366-19T>C)
c.8739-19T>C (n.8739-19T>C)
c.8685-19T>C (n.8685-19T>C)
c.8475-19T>C (n.8475-19T>C)
c.8121-19T>C (n.8121-19T>C)
c.6018-19T>C (n.6018-19T>C)
n.8968-19T>C
c.8604-19T>C (n.8604-19T>C)
c.7800-19T>C (n.7800-19T>C)
c.7605-19T>C (n.7605-19T>C)
n.8962-19T>C
n.9017-19T>C
 gnomAD v4
5g.37125428A>TCA3237648CPLANE1n.1792-19T>A
c.8793-19T>A (n.8793-19T>A)
n.635T>A
c.8631-19T>A (n.8631-19T>A)
c.5786T>A (n.5786T>A)
n.3974-19T>A
n.342-3644T>A
c.5829-19T>A (n.5829-19T>A)
c.8790-19T>A (n.8790-19T>A)
c.8682-19T>A (n.8682-19T>A)
c.8664-19T>A (n.8664-19T>A)
c.5436-19T>A (n.5436-19T>A)
c.3366-19T>A (n.3366-19T>A)
c.8739-19T>A (n.8739-19T>A)
c.8685-19T>A (n.8685-19T>A)
c.8475-19T>A (n.8475-19T>A)
c.8121-19T>A (n.8121-19T>A)
c.6018-19T>A (n.6018-19T>A)
n.8968-19T>A
c.8604-19T>A (n.8604-19T>A)
c.7800-19T>A (n.7800-19T>A)
c.7605-19T>A (n.7605-19T>A)
n.8962-19T>A
n.9017-19T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37125430G>CCA2765912317CPLANE1n.1792-21C>G
c.8793-21C>G (n.8793-21C>G)
n.633C>G
c.8631-21C>G (n.8631-21C>G)
c.5784C>G (n.5784C>G)
n.3974-21C>G
n.342-3646C>G
c.5829-21C>G (n.5829-21C>G)
c.8790-21C>G (n.8790-21C>G)
c.8682-21C>G (n.8682-21C>G)
c.8664-21C>G (n.8664-21C>G)
c.5436-21C>G (n.5436-21C>G)
c.3366-21C>G (n.3366-21C>G)
c.8739-21C>G (n.8739-21C>G)
c.8685-21C>G (n.8685-21C>G)
c.8475-21C>G (n.8475-21C>G)
c.8121-21C>G (n.8121-21C>G)
c.6018-21C>G (n.6018-21C>G)
n.8968-21C>G
c.8604-21C>G (n.8604-21C>G)
c.7800-21C>G (n.7800-21C>G)
c.7605-21C>G (n.7605-21C>G)
n.8962-21C>G
n.9017-21C>G
5g.37125430G>TCA2673580106CPLANE1n.1792-21C>A
c.8793-21C>A (n.8793-21C>A)
n.633C>A
c.8631-21C>A (n.8631-21C>A)
c.5784C>A (n.5784C>A)
n.3974-21C>A
n.342-3646C>A
c.5829-21C>A (n.5829-21C>A)
c.8790-21C>A (n.8790-21C>A)
c.8682-21C>A (n.8682-21C>A)
c.8664-21C>A (n.8664-21C>A)
c.5436-21C>A (n.5436-21C>A)
c.3366-21C>A (n.3366-21C>A)
c.8739-21C>A (n.8739-21C>A)
c.8685-21C>A (n.8685-21C>A)
c.8475-21C>A (n.8475-21C>A)
c.8121-21C>A (n.8121-21C>A)
c.6018-21C>A (n.6018-21C>A)
n.8968-21C>A
c.8604-21C>A (n.8604-21C>A)
c.7800-21C>A (n.7800-21C>A)
c.7605-21C>A (n.7605-21C>A)
n.8962-21C>A
n.9017-21C>A
 gnomAD v4
5g.37125431A=CA1539667797CPLANE1n.1792-22T=
c.8793-22T= (n.8793-22T=)
n.632T=
c.8631-22T= (n.8631-22T=)
c.5783T= (n.5783T=)
n.3974-22T=
n.342-3647T=
c.5829-22T= (n.5829-22T=)
c.8790-22T= (n.8790-22T=)
c.8682-22T= (n.8682-22T=)
c.8664-22T= (n.8664-22T=)
c.5436-22T= (n.5436-22T=)
c.3366-22T= (n.3366-22T=)
c.8739-22T= (n.8739-22T=)
c.8685-22T= (n.8685-22T=)
c.8475-22T= (n.8475-22T=)
c.8121-22T= (n.8121-22T=)
c.6018-22T= (n.6018-22T=)
n.8968-22T=
c.8604-22T= (n.8604-22T=)
c.7800-22T= (n.7800-22T=)
c.7605-22T= (n.7605-22T=)
n.8962-22T=
n.9017-22T=
5g.37125431A>GCA3237649CPLANE1n.1792-22T>C
c.8793-22T>C (n.8793-22T>C)
n.632T>C
c.8631-22T>C (n.8631-22T>C)
c.5783T>C (n.5783T>C)
n.3974-22T>C
n.342-3647T>C
c.5829-22T>C (n.5829-22T>C)
c.8790-22T>C (n.8790-22T>C)
c.8682-22T>C (n.8682-22T>C)
c.8664-22T>C (n.8664-22T>C)
c.5436-22T>C (n.5436-22T>C)
c.3366-22T>C (n.3366-22T>C)
c.8739-22T>C (n.8739-22T>C)
c.8685-22T>C (n.8685-22T>C)
c.8475-22T>C (n.8475-22T>C)
c.8121-22T>C (n.8121-22T>C)
c.6018-22T>C (n.6018-22T>C)
n.8968-22T>C
c.8604-22T>C (n.8604-22T>C)
c.7800-22T>C (n.7800-22T>C)
c.7605-22T>C (n.7605-22T>C)
n.8962-22T>C
n.9017-22T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37125431A>TCA3237650CPLANE1n.1792-22T>A
c.8793-22T>A (n.8793-22T>A)
n.632T>A
c.8631-22T>A (n.8631-22T>A)
c.5783T>A (n.5783T>A)
n.3974-22T>A
n.342-3647T>A
c.5829-22T>A (n.5829-22T>A)
c.8790-22T>A (n.8790-22T>A)
c.8682-22T>A (n.8682-22T>A)
c.8664-22T>A (n.8664-22T>A)
c.5436-22T>A (n.5436-22T>A)
c.3366-22T>A (n.3366-22T>A)
c.8739-22T>A (n.8739-22T>A)
c.8685-22T>A (n.8685-22T>A)
c.8475-22T>A (n.8475-22T>A)
c.8121-22T>A (n.8121-22T>A)
c.6018-22T>A (n.6018-22T>A)
n.8968-22T>A
c.8604-22T>A (n.8604-22T>A)
c.7800-22T>A (n.7800-22T>A)
c.7605-22T>A (n.7605-22T>A)
n.8962-22T>A
n.9017-22T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37125432C>ACA2765912319CPLANE1n.1792-23G>T
c.8793-23G>T (n.8793-23G>T)
n.631G>T
c.8631-23G>T (n.8631-23G>T)
c.5782G>T (n.5782G>T)
n.3974-23G>T
n.342-3648G>T
c.5829-23G>T (n.5829-23G>T)
c.8790-23G>T (n.8790-23G>T)
c.8682-23G>T (n.8682-23G>T)
c.8664-23G>T (n.8664-23G>T)
c.5436-23G>T (n.5436-23G>T)
c.3366-23G>T (n.3366-23G>T)
c.8739-23G>T (n.8739-23G>T)
c.8685-23G>T (n.8685-23G>T)
c.8475-23G>T (n.8475-23G>T)
c.8121-23G>T (n.8121-23G>T)
c.6018-23G>T (n.6018-23G>T)
n.8968-23G>T
c.8604-23G>T (n.8604-23G>T)
c.7800-23G>T (n.7800-23G>T)
c.7605-23G>T (n.7605-23G>T)
n.8962-23G>T
n.9017-23G>T
5g.37125432C=CA1539667800CPLANE1n.1792-23G=
c.8793-23G= (n.8793-23G=)
n.631G=
c.8631-23G= (n.8631-23G=)
c.5782G= (n.5782G=)
n.3974-23G=
n.342-3648G=
c.5829-23G= (n.5829-23G=)
c.8790-23G= (n.8790-23G=)
c.8682-23G= (n.8682-23G=)
c.8664-23G= (n.8664-23G=)
c.5436-23G= (n.5436-23G=)
c.3366-23G= (n.3366-23G=)
c.8739-23G= (n.8739-23G=)
c.8685-23G= (n.8685-23G=)
c.8475-23G= (n.8475-23G=)
c.8121-23G= (n.8121-23G=)
c.6018-23G= (n.6018-23G=)
n.8968-23G=
c.8604-23G= (n.8604-23G=)
c.7800-23G= (n.7800-23G=)
c.7605-23G= (n.7605-23G=)
n.8962-23G=
n.9017-23G=
5g.37125432C>TCA3237651CPLANE1n.1792-23G>A
c.8793-23G>A (n.8793-23G>A)
n.631G>A
c.8631-23G>A (n.8631-23G>A)
c.5782G>A (n.5782G>A)
n.3974-23G>A
n.342-3648G>A
c.5829-23G>A (n.5829-23G>A)
c.8790-23G>A (n.8790-23G>A)
c.8682-23G>A (n.8682-23G>A)
c.8664-23G>A (n.8664-23G>A)
c.5436-23G>A (n.5436-23G>A)
c.3366-23G>A (n.3366-23G>A)
c.8739-23G>A (n.8739-23G>A)
c.8685-23G>A (n.8685-23G>A)
c.8475-23G>A (n.8475-23G>A)
c.8121-23G>A (n.8121-23G>A)
c.6018-23G>A (n.6018-23G>A)
n.8968-23G>A
c.8604-23G>A (n.8604-23G>A)
c.7800-23G>A (n.7800-23G>A)
c.7605-23G>A (n.7605-23G>A)
n.8962-23G>A
n.9017-23G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37125433_37125434insCTGCA2765912320CPLANE1n.1792-25_1792-24insCAG
c.8793-25_8793-24insCAG (n.8793-25_8793-24insCAG)
n.629_630insCAG
c.8631-25_8631-24insCAG (n.8631-25_8631-24insCAG)
c.5780_5781insCAG (n.5780_5781insCAG)
n.3974-25_3974-24insCAG
n.342-3650_342-3649insCAG
c.5829-25_5829-24insCAG (n.5829-25_5829-24insCAG)
c.8790-25_8790-24insCAG (n.8790-25_8790-24insCAG)
c.8682-25_8682-24insCAG (n.8682-25_8682-24insCAG)
c.8664-25_8664-24insCAG (n.8664-25_8664-24insCAG)
c.5436-25_5436-24insCAG (n.5436-25_5436-24insCAG)
c.3366-25_3366-24insCAG (n.3366-25_3366-24insCAG)
c.8739-25_8739-24insCAG (n.8739-25_8739-24insCAG)
c.8685-25_8685-24insCAG (n.8685-25_8685-24insCAG)
c.8475-25_8475-24insCAG (n.8475-25_8475-24insCAG)
c.8121-25_8121-24insCAG (n.8121-25_8121-24insCAG)
c.6018-25_6018-24insCAG (n.6018-25_6018-24insCAG)
n.8968-25_8968-24insCAG
c.8604-25_8604-24insCAG (n.8604-25_8604-24insCAG)
c.7800-25_7800-24insCAG (n.7800-25_7800-24insCAG)
c.7605-25_7605-24insCAG (n.7605-25_7605-24insCAG)
n.8962-25_8962-24insCAG
n.9017-25_9017-24insCAG
5g.37125434T>CCA2673580107CPLANE1n.1792-25A>G
c.8793-25A>G (n.8793-25A>G)
n.629A>G
c.8631-25A>G (n.8631-25A>G)
c.5780A>G (n.5780A>G)
n.3974-25A>G
n.342-3650A>G
c.5829-25A>G (n.5829-25A>G)
c.8790-25A>G (n.8790-25A>G)
c.8682-25A>G (n.8682-25A>G)
c.8664-25A>G (n.8664-25A>G)
c.5436-25A>G (n.5436-25A>G)
c.3366-25A>G (n.3366-25A>G)
c.8739-25A>G (n.8739-25A>G)
c.8685-25A>G (n.8685-25A>G)
c.8475-25A>G (n.8475-25A>G)
c.8121-25A>G (n.8121-25A>G)
c.6018-25A>G (n.6018-25A>G)
n.8968-25A>G
c.8604-25A>G (n.8604-25A>G)
c.7800-25A>G (n.7800-25A>G)
c.7605-25A>G (n.7605-25A>G)
n.8962-25A>G
n.9017-25A>G
 gnomAD v4

Number of alleles fetched