Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37125298C>ACA359498814CPLANE1n.1903G>T
c.8904G>T (p.Glu2968Asp)
n.765G>T
c.8742G>T (p.Glu2914Asp)
c.5916G>T (n.5916G>T)
n.4085G>T
n.342-3514G>T
c.5940G>T (p.Glu1980Asp)
c.8901G>T (p.Glu2967Asp)
c.8793G>T (p.Glu2931Asp)
c.8775G>T (p.Glu2925Asp)
c.5547G>T (p.Glu1849Asp)
c.3477G>T (p.Glu1159Asp)
c.8850G>T (p.Glu2950Asp)
c.8796G>T (p.Glu2932Asp)
c.8586G>T (p.Glu2862Asp)
c.8232G>T (p.Glu2744Asp)
c.6129G>T (p.Glu2043Asp)
n.9079G>T
c.8715G>T (p.Glu2905Asp)
c.7911G>T (p.Glu2637Asp)
c.7716G>T (p.Glu2572Asp)
n.9128G>T
5g.37125298C>GCA359498817CPLANE1n.1903G>C
c.8904G>C (p.Glu2968Asp)
n.765G>C
c.8742G>C (p.Glu2914Asp)
c.5916G>C (n.5916G>C)
n.4085G>C
n.342-3514G>C
c.5940G>C (p.Glu1980Asp)
c.8901G>C (p.Glu2967Asp)
c.8793G>C (p.Glu2931Asp)
c.8775G>C (p.Glu2925Asp)
c.5547G>C (p.Glu1849Asp)
c.3477G>C (p.Glu1159Asp)
c.8850G>C (p.Glu2950Asp)
c.8796G>C (p.Glu2932Asp)
c.8586G>C (p.Glu2862Asp)
c.8232G>C (p.Glu2744Asp)
c.6129G>C (p.Glu2043Asp)
n.9079G>C
c.8715G>C (p.Glu2905Asp)
c.7911G>C (p.Glu2637Asp)
c.7716G>C (p.Glu2572Asp)
n.9128G>C
5g.37125298C>TCA443922005CPLANE1n.1903G>A
c.8904G>A (p.Glu2968=)
n.765G>A
c.8742G>A (p.Glu2914=)
c.5916G>A (n.5916G>A)
n.4085G>A
n.342-3514G>A
c.5940G>A (p.Glu1980=)
c.8901G>A (p.Glu2967=)
c.8793G>A (p.Glu2931=)
c.8775G>A (p.Glu2925=)
c.5547G>A (p.Glu1849=)
c.3477G>A (p.Glu1159=)
c.8850G>A (p.Glu2950=)
c.8796G>A (p.Glu2932=)
c.8586G>A (p.Glu2862=)
c.8232G>A (p.Glu2744=)
c.6129G>A (p.Glu2043=)
n.9079G>A
c.8715G>A (p.Glu2905=)
c.7911G>A (p.Glu2637=)
c.7716G>A (p.Glu2572=)
n.9128G>A
 ClinVar
5g.37125299T>ACA359498830CPLANE1n.1902A>T
c.8903A>T (p.Glu2968Val)
n.764A>T
c.8741A>T (p.Glu2914Val)
c.5915A>T (n.5915A>T)
n.4084A>T
n.342-3515A>T
c.5939A>T (p.Glu1980Val)
c.8900A>T (p.Glu2967Val)
c.8792A>T (p.Glu2931Val)
c.8774A>T (p.Glu2925Val)
c.5546A>T (p.Glu1849Val)
c.3476A>T (p.Glu1159Val)
c.8849A>T (p.Glu2950Val)
c.8795A>T (p.Glu2932Val)
c.8585A>T (p.Glu2862Val)
c.8231A>T (p.Glu2744Val)
c.6128A>T (p.Glu2043Val)
n.9078A>T
c.8714A>T (p.Glu2905Val)
c.7910A>T (p.Glu2637Val)
c.7715A>T (p.Glu2572Val)
n.9127A>T
5g.37125299T>CCA359498827CPLANE1n.1902A>G
c.8903A>G (p.Glu2968Gly)
n.764A>G
c.8741A>G (p.Glu2914Gly)
c.5915A>G (n.5915A>G)
n.4084A>G
n.342-3515A>G
c.5939A>G (p.Glu1980Gly)
c.8900A>G (p.Glu2967Gly)
c.8792A>G (p.Glu2931Gly)
c.8774A>G (p.Glu2925Gly)
c.5546A>G (p.Glu1849Gly)
c.3476A>G (p.Glu1159Gly)
c.8849A>G (p.Glu2950Gly)
c.8795A>G (p.Glu2932Gly)
c.8585A>G (p.Glu2862Gly)
c.8231A>G (p.Glu2744Gly)
c.6128A>G (p.Glu2043Gly)
n.9078A>G
c.8714A>G (p.Glu2905Gly)
c.7910A>G (p.Glu2637Gly)
c.7715A>G (p.Glu2572Gly)
n.9127A>G
5g.37125299T>GCA359498822CPLANE1n.1902A>C
c.8903A>C (p.Glu2968Ala)
n.764A>C
c.8741A>C (p.Glu2914Ala)
c.5915A>C (n.5915A>C)
n.4084A>C
n.342-3515A>C
c.5939A>C (p.Glu1980Ala)
c.8900A>C (p.Glu2967Ala)
c.8792A>C (p.Glu2931Ala)
c.8774A>C (p.Glu2925Ala)
c.5546A>C (p.Glu1849Ala)
c.3476A>C (p.Glu1159Ala)
c.8849A>C (p.Glu2950Ala)
c.8795A>C (p.Glu2932Ala)
c.8585A>C (p.Glu2862Ala)
c.8231A>C (p.Glu2744Ala)
c.6128A>C (p.Glu2043Ala)
n.9078A>C
c.8714A>C (p.Glu2905Ala)
c.7910A>C (p.Glu2637Ala)
c.7715A>C (p.Glu2572Ala)
n.9127A>C
5g.37125300C>ACA359498834CPLANE1n.1901G>T
c.8902G>T (p.Glu2968Ter)
n.763G>T
c.8740G>T (p.Glu2914Ter)
c.5914G>T (n.5914G>T)
n.4083G>T
n.342-3516G>T
c.5938G>T (p.Glu1980Ter)
c.8899G>T (p.Glu2967Ter)
c.8791G>T (p.Glu2931Ter)
c.8773G>T (p.Glu2925Ter)
c.5545G>T (p.Glu1849Ter)
c.3475G>T (p.Glu1159Ter)
c.8848G>T (p.Glu2950Ter)
c.8794G>T (p.Glu2932Ter)
c.8584G>T (p.Glu2862Ter)
c.8230G>T (p.Glu2744Ter)
c.6127G>T (p.Glu2043Ter)
n.9077G>T
c.8713G>T (p.Glu2905Ter)
c.7909G>T (p.Glu2637Ter)
c.7714G>T (p.Glu2572Ter)
n.9126G>T
5g.37125300C>GCA359498841CPLANE1n.1901G>C
c.8902G>C (p.Glu2968Gln)
n.763G>C
c.8740G>C (p.Glu2914Gln)
c.5914G>C (n.5914G>C)
n.4083G>C
n.342-3516G>C
c.5938G>C (p.Glu1980Gln)
c.8899G>C (p.Glu2967Gln)
c.8791G>C (p.Glu2931Gln)
c.8773G>C (p.Glu2925Gln)
c.5545G>C (p.Glu1849Gln)
c.3475G>C (p.Glu1159Gln)
c.8848G>C (p.Glu2950Gln)
c.8794G>C (p.Glu2932Gln)
c.8584G>C (p.Glu2862Gln)
c.8230G>C (p.Glu2744Gln)
c.6127G>C (p.Glu2043Gln)
n.9077G>C
c.8713G>C (p.Glu2905Gln)
c.7909G>C (p.Glu2637Gln)
c.7714G>C (p.Glu2572Gln)
n.9126G>C
5g.37125300C>TCA359498845CPLANE1n.1901G>A
c.8902G>A (p.Glu2968Lys)
n.763G>A
c.8740G>A (p.Glu2914Lys)
c.5914G>A (n.5914G>A)
n.4083G>A
n.342-3516G>A
c.5938G>A (p.Glu1980Lys)
c.8899G>A (p.Glu2967Lys)
c.8791G>A (p.Glu2931Lys)
c.8773G>A (p.Glu2925Lys)
c.5545G>A (p.Glu1849Lys)
c.3475G>A (p.Glu1159Lys)
c.8848G>A (p.Glu2950Lys)
c.8794G>A (p.Glu2932Lys)
c.8584G>A (p.Glu2862Lys)
c.8230G>A (p.Glu2744Lys)
c.6127G>A (p.Glu2043Lys)
n.9077G>A
c.8713G>A (p.Glu2905Lys)
c.7909G>A (p.Glu2637Lys)
c.7714G>A (p.Glu2572Lys)
n.9126G>A
5g.37125301A=CA1539667626CPLANE1n.1900T=
c.8901T= (p.Asn2967=)
n.762T=
c.8739T= (p.Asn2913=)
c.5913T= (n.5913T=)
n.4082T=
n.342-3517T=
c.5937T= (p.Asn1979=)
c.8898T= (p.Asn2966=)
c.8790T= (p.Asn2930=)
c.8772T= (p.Asn2924=)
c.5544T= (p.Asn1848=)
c.3474T= (p.Asn1158=)
c.8847T= (p.Asn2949=)
c.8793T= (p.Asn2931=)
c.8583T= (p.Asn2861=)
c.8229T= (p.Asn2743=)
c.6126T= (p.Asn2042=)
n.9076T=
c.8712T= (p.Asn2904=)
c.7908T= (p.Asn2636=)
c.7713T= (p.Asn2571=)
n.9125T=
5g.37125301A>CCA359498852CPLANE1n.1900T>G
c.8901T>G (p.Asn2967Lys)
n.762T>G
c.8739T>G (p.Asn2913Lys)
c.5913T>G (n.5913T>G)
n.4082T>G
n.342-3517T>G
c.5937T>G (p.Asn1979Lys)
c.8898T>G (p.Asn2966Lys)
c.8790T>G (p.Asn2930Lys)
c.8772T>G (p.Asn2924Lys)
c.5544T>G (p.Asn1848Lys)
c.3474T>G (p.Asn1158Lys)
c.8847T>G (p.Asn2949Lys)
c.8793T>G (p.Asn2931Lys)
c.8583T>G (p.Asn2861Lys)
c.8229T>G (p.Asn2743Lys)
c.6126T>G (p.Asn2042Lys)
n.9076T>G
c.8712T>G (p.Asn2904Lys)
c.7908T>G (p.Asn2636Lys)
c.7713T>G (p.Asn2571Lys)
n.9125T>G
5g.37125301A>GCA117059190CPLANE1n.1900T>C
c.8901T>C (p.Asn2967=)
n.762T>C
c.8739T>C (p.Asn2913=)
c.5913T>C (n.5913T>C)
n.4082T>C
n.342-3517T>C
c.5937T>C (p.Asn1979=)
c.8898T>C (p.Asn2966=)
c.8790T>C (p.Asn2930=)
c.8772T>C (p.Asn2924=)
c.5544T>C (p.Asn1848=)
c.3474T>C (p.Asn1158=)
c.8847T>C (p.Asn2949=)
c.8793T>C (p.Asn2931=)
c.8583T>C (p.Asn2861=)
c.8229T>C (p.Asn2743=)
c.6126T>C (p.Asn2042=)
n.9076T>C
c.8712T>C (p.Asn2904=)
c.7908T>C (p.Asn2636=)
c.7713T>C (p.Asn2571=)
n.9125T>C
 dbSNP gnomAD v4
5g.37125301A>TCA359498858CPLANE1n.1900T>A
c.8901T>A (p.Asn2967Lys)
n.762T>A
c.8739T>A (p.Asn2913Lys)
c.5913T>A (n.5913T>A)
n.4082T>A
n.342-3517T>A
c.5937T>A (p.Asn1979Lys)
c.8898T>A (p.Asn2966Lys)
c.8790T>A (p.Asn2930Lys)
c.8772T>A (p.Asn2924Lys)
c.5544T>A (p.Asn1848Lys)
c.3474T>A (p.Asn1158Lys)
c.8847T>A (p.Asn2949Lys)
c.8793T>A (p.Asn2931Lys)
c.8583T>A (p.Asn2861Lys)
c.8229T>A (p.Asn2743Lys)
c.6126T>A (p.Asn2042Lys)
n.9076T>A
c.8712T>A (p.Asn2904Lys)
c.7908T>A (p.Asn2636Lys)
c.7713T>A (p.Asn2571Lys)
n.9125T>A
5g.37125302T>ACA359498861CPLANE1n.1899A>T
c.8900A>T (p.Asn2967Ile)
n.761A>T
c.8738A>T (p.Asn2913Ile)
c.5912A>T (n.5912A>T)
n.4081A>T
n.342-3518A>T
c.5936A>T (p.Asn1979Ile)
c.8897A>T (p.Asn2966Ile)
c.8789A>T (p.Asn2930Ile)
c.8771A>T (p.Asn2924Ile)
c.5543A>T (p.Asn1848Ile)
c.3473A>T (p.Asn1158Ile)
c.8846A>T (p.Asn2949Ile)
c.8792A>T (p.Asn2931Ile)
c.8582A>T (p.Asn2861Ile)
c.8228A>T (p.Asn2743Ile)
c.6125A>T (p.Asn2042Ile)
n.9075A>T
c.8711A>T (p.Asn2904Ile)
c.7907A>T (p.Asn2636Ile)
c.7712A>T (p.Asn2571Ile)
n.9124A>T
5g.37125302T>CCA359498894CPLANE1n.1899A>G
c.8900A>G (p.Asn2967Ser)
n.761A>G
c.8738A>G (p.Asn2913Ser)
c.5912A>G (n.5912A>G)
n.4081A>G
n.342-3518A>G
c.5936A>G (p.Asn1979Ser)
c.8897A>G (p.Asn2966Ser)
c.8789A>G (p.Asn2930Ser)
c.8771A>G (p.Asn2924Ser)
c.5543A>G (p.Asn1848Ser)
c.3473A>G (p.Asn1158Ser)
c.8846A>G (p.Asn2949Ser)
c.8792A>G (p.Asn2931Ser)
c.8582A>G (p.Asn2861Ser)
c.8228A>G (p.Asn2743Ser)
c.6125A>G (p.Asn2042Ser)
n.9075A>G
c.8711A>G (p.Asn2904Ser)
c.7907A>G (p.Asn2636Ser)
c.7712A>G (p.Asn2571Ser)
n.9124A>G
5g.37125302T>GCA359498903CPLANE1n.1899A>C
c.8900A>C (p.Asn2967Thr)
n.761A>C
c.8738A>C (p.Asn2913Thr)
c.5912A>C (n.5912A>C)
n.4081A>C
n.342-3518A>C
c.5936A>C (p.Asn1979Thr)
c.8897A>C (p.Asn2966Thr)
c.8789A>C (p.Asn2930Thr)
c.8771A>C (p.Asn2924Thr)
c.5543A>C (p.Asn1848Thr)
c.3473A>C (p.Asn1158Thr)
c.8846A>C (p.Asn2949Thr)
c.8792A>C (p.Asn2931Thr)
c.8582A>C (p.Asn2861Thr)
c.8228A>C (p.Asn2743Thr)
c.6125A>C (p.Asn2042Thr)
n.9075A>C
c.8711A>C (p.Asn2904Thr)
c.7907A>C (p.Asn2636Thr)
c.7712A>C (p.Asn2571Thr)
n.9124A>C
5g.37125303T>ACA359498907CPLANE1n.1898A>T
c.8899A>T (p.Asn2967Tyr)
n.760A>T
c.8737A>T (p.Asn2913Tyr)
c.5911A>T (n.5911A>T)
n.4080A>T
n.342-3519A>T
c.5935A>T (p.Asn1979Tyr)
c.8896A>T (p.Asn2966Tyr)
c.8788A>T (p.Asn2930Tyr)
c.8770A>T (p.Asn2924Tyr)
c.5542A>T (p.Asn1848Tyr)
c.3472A>T (p.Asn1158Tyr)
c.8845A>T (p.Asn2949Tyr)
c.8791A>T (p.Asn2931Tyr)
c.8581A>T (p.Asn2861Tyr)
c.8227A>T (p.Asn2743Tyr)
c.6124A>T (p.Asn2042Tyr)
n.9074A>T
c.8710A>T (p.Asn2904Tyr)
c.7906A>T (p.Asn2636Tyr)
c.7711A>T (p.Asn2571Tyr)
n.9123A>T
5g.37125303T>CCA359498911CPLANE1n.1898A>G
c.8899A>G (p.Asn2967Asp)
n.760A>G
c.8737A>G (p.Asn2913Asp)
c.5911A>G (n.5911A>G)
n.4080A>G
n.342-3519A>G
c.5935A>G (p.Asn1979Asp)
c.8896A>G (p.Asn2966Asp)
c.8788A>G (p.Asn2930Asp)
c.8770A>G (p.Asn2924Asp)
c.5542A>G (p.Asn1848Asp)
c.3472A>G (p.Asn1158Asp)
c.8845A>G (p.Asn2949Asp)
c.8791A>G (p.Asn2931Asp)
c.8581A>G (p.Asn2861Asp)
c.8227A>G (p.Asn2743Asp)
c.6124A>G (p.Asn2042Asp)
n.9074A>G
c.8710A>G (p.Asn2904Asp)
c.7906A>G (p.Asn2636Asp)
c.7711A>G (p.Asn2571Asp)
n.9123A>G
 dbSNP gnomAD v4
5g.37125303T>GCA359498916CPLANE1n.1898A>C
c.8899A>C (p.Asn2967His)
n.760A>C
c.8737A>C (p.Asn2913His)
c.5911A>C (n.5911A>C)
n.4080A>C
n.342-3519A>C
c.5935A>C (p.Asn1979His)
c.8896A>C (p.Asn2966His)
c.8788A>C (p.Asn2930His)
c.8770A>C (p.Asn2924His)
c.5542A>C (p.Asn1848His)
c.3472A>C (p.Asn1158His)
c.8845A>C (p.Asn2949His)
c.8791A>C (p.Asn2931His)
c.8581A>C (p.Asn2861His)
c.8227A>C (p.Asn2743His)
c.6124A>C (p.Asn2042His)
n.9074A>C
c.8710A>C (p.Asn2904His)
c.7906A>C (p.Asn2636His)
c.7711A>C (p.Asn2571His)
n.9123A>C
5g.37125303T=CA1539667628CPLANE1n.1898A=
c.8899A= (p.Asn2967=)
n.760A=
c.8737A= (p.Asn2913=)
c.5911A= (n.5911A=)
n.4080A=
n.342-3519A=
c.5935A= (p.Asn1979=)
c.8896A= (p.Asn2966=)
c.8788A= (p.Asn2930=)
c.8770A= (p.Asn2924=)
c.5542A= (p.Asn1848=)
c.3472A= (p.Asn1158=)
c.8845A= (p.Asn2949=)
c.8791A= (p.Asn2931=)
c.8581A= (p.Asn2861=)
c.8227A= (p.Asn2743=)
c.6124A= (p.Asn2042=)
n.9074A=
c.8710A= (p.Asn2904=)
c.7906A= (p.Asn2636=)
c.7711A= (p.Asn2571=)
n.9123A=
5g.37125304T>ACA359498920CPLANE1n.1897A>T
c.8898A>T (p.Leu2966Phe)
n.759A>T
c.8736A>T (p.Leu2912Phe)
c.5910A>T (n.5910A>T)
n.4079A>T
n.342-3520A>T
c.5934A>T (p.Leu1978Phe)
c.8895A>T (p.Leu2965Phe)
c.8787A>T (p.Leu2929Phe)
c.8769A>T (p.Leu2923Phe)
c.5541A>T (p.Leu1847Phe)
c.3471A>T (p.Leu1157Phe)
c.8844A>T (p.Leu2948Phe)
c.8790A>T (p.Leu2930Phe)
c.8580A>T (p.Leu2860Phe)
c.8226A>T (p.Leu2742Phe)
c.6123A>T (p.Leu2041Phe)
n.9073A>T
c.8709A>T (p.Leu2903Phe)
c.7905A>T (p.Leu2635Phe)
c.7710A>T (p.Leu2570Phe)
n.9122A>T
5g.37125304T>CCA443922006CPLANE1n.1897A>G
c.8898A>G (p.Leu2966=)
n.759A>G
c.8736A>G (p.Leu2912=)
c.5910A>G (n.5910A>G)
n.4079A>G
n.342-3520A>G
c.5934A>G (p.Leu1978=)
c.8895A>G (p.Leu2965=)
c.8787A>G (p.Leu2929=)
c.8769A>G (p.Leu2923=)
c.5541A>G (p.Leu1847=)
c.3471A>G (p.Leu1157=)
c.8844A>G (p.Leu2948=)
c.8790A>G (p.Leu2930=)
c.8580A>G (p.Leu2860=)
c.8226A>G (p.Leu2742=)
c.6123A>G (p.Leu2041=)
n.9073A>G
c.8709A>G (p.Leu2903=)
c.7905A>G (p.Leu2635=)
c.7710A>G (p.Leu2570=)
n.9122A>G
5g.37125304T>GCA359498936CPLANE1n.1897A>C
c.8898A>C (p.Leu2966Phe)
n.759A>C
c.8736A>C (p.Leu2912Phe)
c.5910A>C (n.5910A>C)
n.4079A>C
n.342-3520A>C
c.5934A>C (p.Leu1978Phe)
c.8895A>C (p.Leu2965Phe)
c.8787A>C (p.Leu2929Phe)
c.8769A>C (p.Leu2923Phe)
c.5541A>C (p.Leu1847Phe)
c.3471A>C (p.Leu1157Phe)
c.8844A>C (p.Leu2948Phe)
c.8790A>C (p.Leu2930Phe)
c.8580A>C (p.Leu2860Phe)
c.8226A>C (p.Leu2742Phe)
c.6123A>C (p.Leu2041Phe)
n.9073A>C
c.8709A>C (p.Leu2903Phe)
c.7905A>C (p.Leu2635Phe)
c.7710A>C (p.Leu2570Phe)
n.9122A>C
5g.37125305A>CCA359498948CPLANE1n.1896T>G
c.8897T>G (p.Leu2966Ter)
n.758T>G
c.8735T>G (p.Leu2912Ter)
c.5909T>G (n.5909T>G)
n.4078T>G
n.342-3521T>G
c.5933T>G (p.Leu1978Ter)
c.8894T>G (p.Leu2965Ter)
c.8786T>G (p.Leu2929Ter)
c.8768T>G (p.Leu2923Ter)
c.5540T>G (p.Leu1847Ter)
c.3470T>G (p.Leu1157Ter)
c.8843T>G (p.Leu2948Ter)
c.8789T>G (p.Leu2930Ter)
c.8579T>G (p.Leu2860Ter)
c.8225T>G (p.Leu2742Ter)
c.6122T>G (p.Leu2041Ter)
n.9072T>G
c.8708T>G (p.Leu2903Ter)
c.7904T>G (p.Leu2635Ter)
c.7709T>G (p.Leu2570Ter)
n.9121T>G
5g.37125305A>GCA359498945CPLANE1n.1896T>C
c.8897T>C (p.Leu2966Ser)
n.758T>C
c.8735T>C (p.Leu2912Ser)
c.5909T>C (n.5909T>C)
n.4078T>C
n.342-3521T>C
c.5933T>C (p.Leu1978Ser)
c.8894T>C (p.Leu2965Ser)
c.8786T>C (p.Leu2929Ser)
c.8768T>C (p.Leu2923Ser)
c.5540T>C (p.Leu1847Ser)
c.3470T>C (p.Leu1157Ser)
c.8843T>C (p.Leu2948Ser)
c.8789T>C (p.Leu2930Ser)
c.8579T>C (p.Leu2860Ser)
c.8225T>C (p.Leu2742Ser)
c.6122T>C (p.Leu2041Ser)
n.9072T>C
c.8708T>C (p.Leu2903Ser)
c.7904T>C (p.Leu2635Ser)
c.7709T>C (p.Leu2570Ser)
n.9121T>C
5g.37125305A>TCA359498940CPLANE1n.1896T>A
c.8897T>A (p.Leu2966Ter)
n.758T>A
c.8735T>A (p.Leu2912Ter)
c.5909T>A (n.5909T>A)
n.4078T>A
n.342-3521T>A
c.5933T>A (p.Leu1978Ter)
c.8894T>A (p.Leu2965Ter)
c.8786T>A (p.Leu2929Ter)
c.8768T>A (p.Leu2923Ter)
c.5540T>A (p.Leu1847Ter)
c.3470T>A (p.Leu1157Ter)
c.8843T>A (p.Leu2948Ter)
c.8789T>A (p.Leu2930Ter)
c.8579T>A (p.Leu2860Ter)
c.8225T>A (p.Leu2742Ter)
c.6122T>A (p.Leu2041Ter)
n.9072T>A
c.8708T>A (p.Leu2903Ter)
c.7904T>A (p.Leu2635Ter)
c.7709T>A (p.Leu2570Ter)
n.9121T>A
5g.37125306A=CA1539667629CPLANE1n.1895T=
c.8896T= (p.Leu2966=)
n.757T=
c.8734T= (p.Leu2912=)
c.5908T= (n.5908T=)
n.4077T=
n.342-3522T=
c.5932T= (p.Leu1978=)
c.8893T= (p.Leu2965=)
c.8785T= (p.Leu2929=)
c.8767T= (p.Leu2923=)
c.5539T= (p.Leu1847=)
c.3469T= (p.Leu1157=)
c.8842T= (p.Leu2948=)
c.8788T= (p.Leu2930=)
c.8578T= (p.Leu2860=)
c.8224T= (p.Leu2742=)
c.6121T= (p.Leu2041=)
n.9071T=
c.8707T= (p.Leu2903=)
c.7903T= (p.Leu2635=)
c.7708T= (p.Leu2570=)
n.9120T=
5g.37125306A>CCA359498952CPLANE1n.1895T>G
c.8896T>G (p.Leu2966Val)
n.757T>G
c.8734T>G (p.Leu2912Val)
c.5908T>G (n.5908T>G)
n.4077T>G
n.342-3522T>G
c.5932T>G (p.Leu1978Val)
c.8893T>G (p.Leu2965Val)
c.8785T>G (p.Leu2929Val)
c.8767T>G (p.Leu2923Val)
c.5539T>G (p.Leu1847Val)
c.3469T>G (p.Leu1157Val)
c.8842T>G (p.Leu2948Val)
c.8788T>G (p.Leu2930Val)
c.8578T>G (p.Leu2860Val)
c.8224T>G (p.Leu2742Val)
c.6121T>G (p.Leu2041Val)
n.9071T>G
c.8707T>G (p.Leu2903Val)
c.7903T>G (p.Leu2635Val)
c.7708T>G (p.Leu2570Val)
n.9120T>G
5g.37125306A>GCA117059194CPLANE1n.1895T>C
c.8896T>C (p.Leu2966=)
n.757T>C
c.8734T>C (p.Leu2912=)
c.5908T>C (n.5908T>C)
n.4077T>C
n.342-3522T>C
c.5932T>C (p.Leu1978=)
c.8893T>C (p.Leu2965=)
c.8785T>C (p.Leu2929=)
c.8767T>C (p.Leu2923=)
c.5539T>C (p.Leu1847=)
c.3469T>C (p.Leu1157=)
c.8842T>C (p.Leu2948=)
c.8788T>C (p.Leu2930=)
c.8578T>C (p.Leu2860=)
c.8224T>C (p.Leu2742=)
c.6121T>C (p.Leu2041=)
n.9071T>C
c.8707T>C (p.Leu2903=)
c.7903T>C (p.Leu2635=)
c.7708T>C (p.Leu2570=)
n.9120T>C
 dbSNP gnomAD v4
5g.37125306A>TCA359498963CPLANE1n.1895T>A
c.8896T>A (p.Leu2966Ile)
n.757T>A
c.8734T>A (p.Leu2912Ile)
c.5908T>A (n.5908T>A)
n.4077T>A
n.342-3522T>A
c.5932T>A (p.Leu1978Ile)
c.8893T>A (p.Leu2965Ile)
c.8785T>A (p.Leu2929Ile)
c.8767T>A (p.Leu2923Ile)
c.5539T>A (p.Leu1847Ile)
c.3469T>A (p.Leu1157Ile)
c.8842T>A (p.Leu2948Ile)
c.8788T>A (p.Leu2930Ile)
c.8578T>A (p.Leu2860Ile)
c.8224T>A (p.Leu2742Ile)
c.6121T>A (p.Leu2041Ile)
n.9071T>A
c.8707T>A (p.Leu2903Ile)
c.7903T>A (p.Leu2635Ile)
c.7708T>A (p.Leu2570Ile)
n.9120T>A
5g.37125307G>ACA443922010CPLANE1n.1894C>T
c.8895C>T (p.Tyr2965=)
n.756C>T
c.8733C>T (p.Tyr2911=)
c.5907C>T (n.5907C>T)
n.4076C>T
n.342-3523C>T
c.5931C>T (p.Tyr1977=)
c.8892C>T (p.Tyr2964=)
c.8784C>T (p.Tyr2928=)
c.8766C>T (p.Tyr2922=)
c.5538C>T (p.Tyr1846=)
c.3468C>T (p.Tyr1156=)
c.8841C>T (p.Tyr2947=)
c.8787C>T (p.Tyr2929=)
c.8577C>T (p.Tyr2859=)
c.8223C>T (p.Tyr2741=)
c.6120C>T (p.Tyr2040=)
n.9070C>T
c.8706C>T (p.Tyr2902=)
c.7902C>T (p.Tyr2634=)
c.7707C>T (p.Tyr2569=)
n.9119C>T
 gnomAD v4
5g.37125307G>CCA359498973CPLANE1n.1894C>G
c.8895C>G (p.Tyr2965Ter)
n.756C>G
c.8733C>G (p.Tyr2911Ter)
c.5907C>G (n.5907C>G)
n.4076C>G
n.342-3523C>G
c.5931C>G (p.Tyr1977Ter)
c.8892C>G (p.Tyr2964Ter)
c.8784C>G (p.Tyr2928Ter)
c.8766C>G (p.Tyr2922Ter)
c.5538C>G (p.Tyr1846Ter)
c.3468C>G (p.Tyr1156Ter)
c.8841C>G (p.Tyr2947Ter)
c.8787C>G (p.Tyr2929Ter)
c.8577C>G (p.Tyr2859Ter)
c.8223C>G (p.Tyr2741Ter)
c.6120C>G (p.Tyr2040Ter)
n.9070C>G
c.8706C>G (p.Tyr2902Ter)
c.7902C>G (p.Tyr2634Ter)
c.7707C>G (p.Tyr2569Ter)
n.9119C>G
5g.37125307G>TCA359498975CPLANE1n.1894C>A
c.8895C>A (p.Tyr2965Ter)
n.756C>A
c.8733C>A (p.Tyr2911Ter)
c.5907C>A (n.5907C>A)
n.4076C>A
n.342-3523C>A
c.5931C>A (p.Tyr1977Ter)
c.8892C>A (p.Tyr2964Ter)
c.8784C>A (p.Tyr2928Ter)
c.8766C>A (p.Tyr2922Ter)
c.5538C>A (p.Tyr1846Ter)
c.3468C>A (p.Tyr1156Ter)
c.8841C>A (p.Tyr2947Ter)
c.8787C>A (p.Tyr2929Ter)
c.8577C>A (p.Tyr2859Ter)
c.8223C>A (p.Tyr2741Ter)
c.6120C>A (p.Tyr2040Ter)
n.9070C>A
c.8706C>A (p.Tyr2902Ter)
c.7902C>A (p.Tyr2634Ter)
c.7707C>A (p.Tyr2569Ter)
n.9119C>A
 gnomAD v4
5g.37125307_37125308dupCA2739289739CPLANE1n.1893_1894dup
c.8894_8895dup (p.Leu2966ThrfsTer2)
n.755_756dup
c.8732_8733dup (p.Leu2912ThrfsTer2)
c.5906_5907dup (n.5906_5907dup)
n.4075_4076dup
n.342-3524_342-3523dup
c.5930_5931dup (p.Leu1978ThrfsTer2)
c.8891_8892dup (p.Leu2965ThrfsTer2)
c.8783_8784dup (p.Leu2929ThrfsTer2)
c.8765_8766dup (p.Leu2923ThrfsTer2)
c.5537_5538dup (p.Leu1847ThrfsTer2)
c.3467_3468dup (p.Leu1157ThrfsTer2)
c.8840_8841dup (p.Leu2948ThrfsTer2)
c.8786_8787dup (p.Leu2930ThrfsTer2)
c.8576_8577dup (p.Leu2860ThrfsTer2)
c.8222_8223dup (p.Leu2742ThrfsTer2)
c.6119_6120dup (p.Leu2041ThrfsTer2)
n.9069_9070dup
c.8705_8706dup (p.Leu2903ThrfsTer2)
c.7901_7902dup (p.Leu2635ThrfsTer2)
c.7706_7707dup (p.Leu2570ThrfsTer2)
n.9118_9119dup
5g.37125308T>ACA359498981CPLANE1n.1893A>T
c.8894A>T (p.Tyr2965Phe)
n.755A>T
c.8732A>T (p.Tyr2911Phe)
c.5906A>T (n.5906A>T)
n.4075A>T
n.342-3524A>T
c.5930A>T (p.Tyr1977Phe)
c.8891A>T (p.Tyr2964Phe)
c.8783A>T (p.Tyr2928Phe)
c.8765A>T (p.Tyr2922Phe)
c.5537A>T (p.Tyr1846Phe)
c.3467A>T (p.Tyr1156Phe)
c.8840A>T (p.Tyr2947Phe)
c.8786A>T (p.Tyr2929Phe)
c.8576A>T (p.Tyr2859Phe)
c.8222A>T (p.Tyr2741Phe)
c.6119A>T (p.Tyr2040Phe)
n.9069A>T
c.8705A>T (p.Tyr2902Phe)
c.7901A>T (p.Tyr2634Phe)
c.7706A>T (p.Tyr2569Phe)
n.9118A>T
5g.37125308T>CCA3237634CPLANE1n.1893A>G
c.8894A>G (p.Tyr2965Cys)
n.755A>G
c.8732A>G (p.Tyr2911Cys)
c.5906A>G (n.5906A>G)
n.4075A>G
n.342-3524A>G
c.5930A>G (p.Tyr1977Cys)
c.8891A>G (p.Tyr2964Cys)
c.8783A>G (p.Tyr2928Cys)
c.8765A>G (p.Tyr2922Cys)
c.5537A>G (p.Tyr1846Cys)
c.3467A>G (p.Tyr1156Cys)
c.8840A>G (p.Tyr2947Cys)
c.8786A>G (p.Tyr2929Cys)
c.8576A>G (p.Tyr2859Cys)
c.8222A>G (p.Tyr2741Cys)
c.6119A>G (p.Tyr2040Cys)
n.9069A>G
c.8705A>G (p.Tyr2902Cys)
c.7901A>G (p.Tyr2634Cys)
c.7706A>G (p.Tyr2569Cys)
n.9118A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37125308T>GCA359498991CPLANE1n.1893A>C
c.8894A>C (p.Tyr2965Ser)
n.755A>C
c.8732A>C (p.Tyr2911Ser)
c.5906A>C (n.5906A>C)
n.4075A>C
n.342-3524A>C
c.5930A>C (p.Tyr1977Ser)
c.8891A>C (p.Tyr2964Ser)
c.8783A>C (p.Tyr2928Ser)
c.8765A>C (p.Tyr2922Ser)
c.5537A>C (p.Tyr1846Ser)
c.3467A>C (p.Tyr1156Ser)
c.8840A>C (p.Tyr2947Ser)
c.8786A>C (p.Tyr2929Ser)
c.8576A>C (p.Tyr2859Ser)
c.8222A>C (p.Tyr2741Ser)
c.6119A>C (p.Tyr2040Ser)
n.9069A>C
c.8705A>C (p.Tyr2902Ser)
c.7901A>C (p.Tyr2634Ser)
c.7706A>C (p.Tyr2569Ser)
n.9118A>C
5g.37125308T=CA1539667632CPLANE1n.1893A=
c.8894A= (p.Tyr2965=)
n.755A=
c.8732A= (p.Tyr2911=)
c.5906A= (n.5906A=)
n.4075A=
n.342-3524A=
c.5930A= (p.Tyr1977=)
c.8891A= (p.Tyr2964=)
c.8783A= (p.Tyr2928=)
c.8765A= (p.Tyr2922=)
c.5537A= (p.Tyr1846=)
c.3467A= (p.Tyr1156=)
c.8840A= (p.Tyr2947=)
c.8786A= (p.Tyr2929=)
c.8576A= (p.Tyr2859=)
c.8222A= (p.Tyr2741=)
c.6119A= (p.Tyr2040=)
n.9069A=
c.8705A= (p.Tyr2902=)
c.7901A= (p.Tyr2634=)
c.7706A= (p.Tyr2569=)
n.9118A=
5g.37125309A>CCA359498993CPLANE1n.1892T>G
c.8893T>G (p.Tyr2965Asp)
n.754T>G
c.8731T>G (p.Tyr2911Asp)
c.5905T>G (n.5905T>G)
n.4074T>G
n.342-3525T>G
c.5929T>G (p.Tyr1977Asp)
c.8890T>G (p.Tyr2964Asp)
c.8782T>G (p.Tyr2928Asp)
c.8764T>G (p.Tyr2922Asp)
c.5536T>G (p.Tyr1846Asp)
c.3466T>G (p.Tyr1156Asp)
c.8839T>G (p.Tyr2947Asp)
c.8785T>G (p.Tyr2929Asp)
c.8575T>G (p.Tyr2859Asp)
c.8221T>G (p.Tyr2741Asp)
c.6118T>G (p.Tyr2040Asp)
n.9068T>G
c.8704T>G (p.Tyr2902Asp)
c.7900T>G (p.Tyr2634Asp)
c.7705T>G (p.Tyr2569Asp)
n.9117T>G
5g.37125309A>GCA359498996CPLANE1n.1892T>C
c.8893T>C (p.Tyr2965His)
n.754T>C
c.8731T>C (p.Tyr2911His)
c.5905T>C (n.5905T>C)
n.4074T>C
n.342-3525T>C
c.5929T>C (p.Tyr1977His)
c.8890T>C (p.Tyr2964His)
c.8782T>C (p.Tyr2928His)
c.8764T>C (p.Tyr2922His)
c.5536T>C (p.Tyr1846His)
c.3466T>C (p.Tyr1156His)
c.8839T>C (p.Tyr2947His)
c.8785T>C (p.Tyr2929His)
c.8575T>C (p.Tyr2859His)
c.8221T>C (p.Tyr2741His)
c.6118T>C (p.Tyr2040His)
n.9068T>C
c.8704T>C (p.Tyr2902His)
c.7900T>C (p.Tyr2634His)
c.7705T>C (p.Tyr2569His)
n.9117T>C
5g.37125309A>TCA359498998CPLANE1n.1892T>A
c.8893T>A (p.Tyr2965Asn)
n.754T>A
c.8731T>A (p.Tyr2911Asn)
c.5905T>A (n.5905T>A)
n.4074T>A
n.342-3525T>A
c.5929T>A (p.Tyr1977Asn)
c.8890T>A (p.Tyr2964Asn)
c.8782T>A (p.Tyr2928Asn)
c.8764T>A (p.Tyr2922Asn)
c.5536T>A (p.Tyr1846Asn)
c.3466T>A (p.Tyr1156Asn)
c.8839T>A (p.Tyr2947Asn)
c.8785T>A (p.Tyr2929Asn)
c.8575T>A (p.Tyr2859Asn)
c.8221T>A (p.Tyr2741Asn)
c.6118T>A (p.Tyr2040Asn)
n.9068T>A
c.8704T>A (p.Tyr2902Asn)
c.7900T>A (p.Tyr2634Asn)
c.7705T>A (p.Tyr2569Asn)
n.9117T>A
5g.37125310C>ACA359499003CPLANE1n.1891G>T
c.8892G>T (p.Lys2964Asn)
n.753G>T
c.8730G>T (p.Lys2910Asn)
c.5904G>T (n.5904G>T)
n.4073G>T
n.342-3526G>T
c.5928G>T (p.Lys1976Asn)
c.8889G>T (p.Lys2963Asn)
c.8781G>T (p.Lys2927Asn)
c.8763G>T (p.Lys2921Asn)
c.5535G>T (p.Lys1845Asn)
c.3465G>T (p.Lys1155Asn)
c.8838G>T (p.Lys2946Asn)
c.8784G>T (p.Lys2928Asn)
c.8574G>T (p.Lys2858Asn)
c.8220G>T (p.Lys2740Asn)
c.6117G>T (p.Lys2039Asn)
n.9067G>T
c.8703G>T (p.Lys2901Asn)
c.7899G>T (p.Lys2633Asn)
c.7704G>T (p.Lys2568Asn)
n.9116G>T
5g.37125310C=CA1539667634CPLANE1n.1891G=
c.8892G= (p.Lys2964=)
n.753G=
c.8730G= (p.Lys2910=)
c.5904G= (n.5904G=)
n.4073G=
n.342-3526G=
c.5928G= (p.Lys1976=)
c.8889G= (p.Lys2963=)
c.8781G= (p.Lys2927=)
c.8763G= (p.Lys2921=)
c.5535G= (p.Lys1845=)
c.3465G= (p.Lys1155=)
c.8838G= (p.Lys2946=)
c.8784G= (p.Lys2928=)
c.8574G= (p.Lys2858=)
c.8220G= (p.Lys2740=)
c.6117G= (p.Lys2039=)
n.9067G=
c.8703G= (p.Lys2901=)
c.7899G= (p.Lys2633=)
c.7704G= (p.Lys2568=)
n.9116G=
5g.37125310C>GCA359499004CPLANE1n.1891G>C
c.8892G>C (p.Lys2964Asn)
n.753G>C
c.8730G>C (p.Lys2910Asn)
c.5904G>C (n.5904G>C)
n.4073G>C
n.342-3526G>C
c.5928G>C (p.Lys1976Asn)
c.8889G>C (p.Lys2963Asn)
c.8781G>C (p.Lys2927Asn)
c.8763G>C (p.Lys2921Asn)
c.5535G>C (p.Lys1845Asn)
c.3465G>C (p.Lys1155Asn)
c.8838G>C (p.Lys2946Asn)
c.8784G>C (p.Lys2928Asn)
c.8574G>C (p.Lys2858Asn)
c.8220G>C (p.Lys2740Asn)
c.6117G>C (p.Lys2039Asn)
n.9067G>C
c.8703G>C (p.Lys2901Asn)
c.7899G>C (p.Lys2633Asn)
c.7704G>C (p.Lys2568Asn)
n.9116G>C
 gnomAD v4
5g.37125310C>TCA443922013CPLANE1n.1891G>A
c.8892G>A (p.Lys2964=)
n.753G>A
c.8730G>A (p.Lys2910=)
c.5904G>A (n.5904G>A)
n.4073G>A
n.342-3526G>A
c.5928G>A (p.Lys1976=)
c.8889G>A (p.Lys2963=)
c.8781G>A (p.Lys2927=)
c.8763G>A (p.Lys2921=)
c.5535G>A (p.Lys1845=)
c.3465G>A (p.Lys1155=)
c.8838G>A (p.Lys2946=)
c.8784G>A (p.Lys2928=)
c.8574G>A (p.Lys2858=)
c.8220G>A (p.Lys2740=)
c.6117G>A (p.Lys2039=)
n.9067G>A
c.8703G>A (p.Lys2901=)
c.7899G>A (p.Lys2633=)
c.7704G>A (p.Lys2568=)
n.9116G>A
 dbSNP gnomAD v3 gnomAD v4
5g.37125311T>ACA359499010CPLANE1n.1890A>T
c.8891A>T (p.Lys2964Met)
n.752A>T
c.8729A>T (p.Lys2910Met)
c.5903A>T (n.5903A>T)
n.4072A>T
n.342-3527A>T
c.5927A>T (p.Lys1976Met)
c.8888A>T (p.Lys2963Met)
c.8780A>T (p.Lys2927Met)
c.8762A>T (p.Lys2921Met)
c.5534A>T (p.Lys1845Met)
c.3464A>T (p.Lys1155Met)
c.8837A>T (p.Lys2946Met)
c.8783A>T (p.Lys2928Met)
c.8573A>T (p.Lys2858Met)
c.8219A>T (p.Lys2740Met)
c.6116A>T (p.Lys2039Met)
n.9066A>T
c.8702A>T (p.Lys2901Met)
c.7898A>T (p.Lys2633Met)
c.7703A>T (p.Lys2568Met)
n.9115A>T
5g.37125311T>CCA359499006CPLANE1n.1890A>G
c.8891A>G (p.Lys2964Arg)
n.752A>G
c.8729A>G (p.Lys2910Arg)
c.5903A>G (n.5903A>G)
n.4072A>G
n.342-3527A>G
c.5927A>G (p.Lys1976Arg)
c.8888A>G (p.Lys2963Arg)
c.8780A>G (p.Lys2927Arg)
c.8762A>G (p.Lys2921Arg)
c.5534A>G (p.Lys1845Arg)
c.3464A>G (p.Lys1155Arg)
c.8837A>G (p.Lys2946Arg)
c.8783A>G (p.Lys2928Arg)
c.8573A>G (p.Lys2858Arg)
c.8219A>G (p.Lys2740Arg)
c.6116A>G (p.Lys2039Arg)
n.9066A>G
c.8702A>G (p.Lys2901Arg)
c.7898A>G (p.Lys2633Arg)
c.7703A>G (p.Lys2568Arg)
n.9115A>G
5g.37125311T>GCA359499005CPLANE1n.1890A>C
c.8891A>C (p.Lys2964Thr)
n.752A>C
c.8729A>C (p.Lys2910Thr)
c.5903A>C (n.5903A>C)
n.4072A>C
n.342-3527A>C
c.5927A>C (p.Lys1976Thr)
c.8888A>C (p.Lys2963Thr)
c.8780A>C (p.Lys2927Thr)
c.8762A>C (p.Lys2921Thr)
c.5534A>C (p.Lys1845Thr)
c.3464A>C (p.Lys1155Thr)
c.8837A>C (p.Lys2946Thr)
c.8783A>C (p.Lys2928Thr)
c.8573A>C (p.Lys2858Thr)
c.8219A>C (p.Lys2740Thr)
c.6116A>C (p.Lys2039Thr)
n.9066A>C
c.8702A>C (p.Lys2901Thr)
c.7898A>C (p.Lys2633Thr)
c.7703A>C (p.Lys2568Thr)
n.9115A>C
5g.37125312T>ACA359499013CPLANE1n.1889A>T
c.8890A>T (p.Lys2964Ter)
n.751A>T
c.8728A>T (p.Lys2910Ter)
c.5902A>T (n.5902A>T)
n.4071A>T
n.342-3528A>T
c.5926A>T (p.Lys1976Ter)
c.8887A>T (p.Lys2963Ter)
c.8779A>T (p.Lys2927Ter)
c.8761A>T (p.Lys2921Ter)
c.5533A>T (p.Lys1845Ter)
c.3463A>T (p.Lys1155Ter)
c.8836A>T (p.Lys2946Ter)
c.8782A>T (p.Lys2928Ter)
c.8572A>T (p.Lys2858Ter)
c.8218A>T (p.Lys2740Ter)
c.6115A>T (p.Lys2039Ter)
n.9065A>T
c.8701A>T (p.Lys2901Ter)
c.7897A>T (p.Lys2633Ter)
c.7702A>T (p.Lys2568Ter)
n.9114A>T
5g.37125312T>CCA359499018CPLANE1n.1889A>G
c.8890A>G (p.Lys2964Glu)
n.751A>G
c.8728A>G (p.Lys2910Glu)
c.5902A>G (n.5902A>G)
n.4071A>G
n.342-3528A>G
c.5926A>G (p.Lys1976Glu)
c.8887A>G (p.Lys2963Glu)
c.8779A>G (p.Lys2927Glu)
c.8761A>G (p.Lys2921Glu)
c.5533A>G (p.Lys1845Glu)
c.3463A>G (p.Lys1155Glu)
c.8836A>G (p.Lys2946Glu)
c.8782A>G (p.Lys2928Glu)
c.8572A>G (p.Lys2858Glu)
c.8218A>G (p.Lys2740Glu)
c.6115A>G (p.Lys2039Glu)
n.9065A>G
c.8701A>G (p.Lys2901Glu)
c.7897A>G (p.Lys2633Glu)
c.7702A>G (p.Lys2568Glu)
n.9114A>G
5g.37125312T>GCA359499023CPLANE1n.1889A>C
c.8890A>C (p.Lys2964Gln)
n.751A>C
c.8728A>C (p.Lys2910Gln)
c.5902A>C (n.5902A>C)
n.4071A>C
n.342-3528A>C
c.5926A>C (p.Lys1976Gln)
c.8887A>C (p.Lys2963Gln)
c.8779A>C (p.Lys2927Gln)
c.8761A>C (p.Lys2921Gln)
c.5533A>C (p.Lys1845Gln)
c.3463A>C (p.Lys1155Gln)
c.8836A>C (p.Lys2946Gln)
c.8782A>C (p.Lys2928Gln)
c.8572A>C (p.Lys2858Gln)
c.8218A>C (p.Lys2740Gln)
c.6115A>C (p.Lys2039Gln)
n.9065A>C
c.8701A>C (p.Lys2901Gln)
c.7897A>C (p.Lys2633Gln)
c.7702A>C (p.Lys2568Gln)
n.9114A>C
5g.37125313T>ACA443922015CPLANE1n.1888A>T
c.8889A>T (p.Ala2963=)
n.750A>T
c.8727A>T (p.Ala2909=)
c.5901A>T (n.5901A>T)
n.4070A>T
n.342-3529A>T
c.5925A>T (p.Ala1975=)
c.8886A>T (p.Ala2962=)
c.8778A>T (p.Ala2926=)
c.8760A>T (p.Ala2920=)
c.5532A>T (p.Ala1844=)
c.3462A>T (p.Ala1154=)
c.8835A>T (p.Ala2945=)
c.8781A>T (p.Ala2927=)
c.8571A>T (p.Ala2857=)
c.8217A>T (p.Ala2739=)
c.6114A>T (p.Ala2038=)
n.9064A>T
c.8700A>T (p.Ala2900=)
c.7896A>T (p.Ala2632=)
c.7701A>T (p.Ala2567=)
n.9113A>T
5g.37125313T>CCA443922016CPLANE1n.1888A>G
c.8889A>G (p.Ala2963=)
n.750A>G
c.8727A>G (p.Ala2909=)
c.5901A>G (n.5901A>G)
n.4070A>G
n.342-3529A>G
c.5925A>G (p.Ala1975=)
c.8886A>G (p.Ala2962=)
c.8778A>G (p.Ala2926=)
c.8760A>G (p.Ala2920=)
c.5532A>G (p.Ala1844=)
c.3462A>G (p.Ala1154=)
c.8835A>G (p.Ala2945=)
c.8781A>G (p.Ala2927=)
c.8571A>G (p.Ala2857=)
c.8217A>G (p.Ala2739=)
c.6114A>G (p.Ala2038=)
n.9064A>G
c.8700A>G (p.Ala2900=)
c.7896A>G (p.Ala2632=)
c.7701A>G (p.Ala2567=)
n.9113A>G
5g.37125313T>GCA443922017CPLANE1n.1888A>C
c.8889A>C (p.Ala2963=)
n.750A>C
c.8727A>C (p.Ala2909=)
c.5901A>C (n.5901A>C)
n.4070A>C
n.342-3529A>C
c.5925A>C (p.Ala1975=)
c.8886A>C (p.Ala2962=)
c.8778A>C (p.Ala2926=)
c.8760A>C (p.Ala2920=)
c.5532A>C (p.Ala1844=)
c.3462A>C (p.Ala1154=)
c.8835A>C (p.Ala2945=)
c.8781A>C (p.Ala2927=)
c.8571A>C (p.Ala2857=)
c.8217A>C (p.Ala2739=)
c.6114A>C (p.Ala2038=)
n.9064A>C
c.8700A>C (p.Ala2900=)
c.7896A>C (p.Ala2632=)
c.7701A>C (p.Ala2567=)
n.9113A>C
5g.37125314G>ACA359499027CPLANE1n.1887C>T
c.8888C>T (p.Ala2963Val)
n.749C>T
c.8726C>T (p.Ala2909Val)
c.5900C>T (n.5900C>T)
n.4069C>T
n.342-3530C>T
c.5924C>T (p.Ala1975Val)
c.8885C>T (p.Ala2962Val)
c.8777C>T (p.Ala2926Val)
c.8759C>T (p.Ala2920Val)
c.5531C>T (p.Ala1844Val)
c.3461C>T (p.Ala1154Val)
c.8834C>T (p.Ala2945Val)
c.8780C>T (p.Ala2927Val)
c.8570C>T (p.Ala2857Val)
c.8216C>T (p.Ala2739Val)
c.6113C>T (p.Ala2038Val)
n.9063C>T
c.8699C>T (p.Ala2900Val)
c.7895C>T (p.Ala2632Val)
c.7700C>T (p.Ala2567Val)
n.9112C>T
5g.37125314G>CCA359499035CPLANE1n.1887C>G
c.8888C>G (p.Ala2963Gly)
n.749C>G
c.8726C>G (p.Ala2909Gly)
c.5900C>G (n.5900C>G)
n.4069C>G
n.342-3530C>G
c.5924C>G (p.Ala1975Gly)
c.8885C>G (p.Ala2962Gly)
c.8777C>G (p.Ala2926Gly)
c.8759C>G (p.Ala2920Gly)
c.5531C>G (p.Ala1844Gly)
c.3461C>G (p.Ala1154Gly)
c.8834C>G (p.Ala2945Gly)
c.8780C>G (p.Ala2927Gly)
c.8570C>G (p.Ala2857Gly)
c.8216C>G (p.Ala2739Gly)
c.6113C>G (p.Ala2038Gly)
n.9063C>G
c.8699C>G (p.Ala2900Gly)
c.7895C>G (p.Ala2632Gly)
c.7700C>G (p.Ala2567Gly)
n.9112C>G
5g.37125314G>TCA359499038CPLANE1n.1887C>A
c.8888C>A (p.Ala2963Glu)
n.749C>A
c.8726C>A (p.Ala2909Glu)
c.5900C>A (n.5900C>A)
n.4069C>A
n.342-3530C>A
c.5924C>A (p.Ala1975Glu)
c.8885C>A (p.Ala2962Glu)
c.8777C>A (p.Ala2926Glu)
c.8759C>A (p.Ala2920Glu)
c.5531C>A (p.Ala1844Glu)
c.3461C>A (p.Ala1154Glu)
c.8834C>A (p.Ala2945Glu)
c.8780C>A (p.Ala2927Glu)
c.8570C>A (p.Ala2857Glu)
c.8216C>A (p.Ala2739Glu)
c.6113C>A (p.Ala2038Glu)
n.9063C>A
c.8699C>A (p.Ala2900Glu)
c.7895C>A (p.Ala2632Glu)
c.7700C>A (p.Ala2567Glu)
n.9112C>A
5g.37125314_37125315delinsGCCA1539667636CPLANE1n.1886_1887delinsGC
c.8887_8888delinsGC (p.Ala2963=)
n.748_749delinsGC
c.8725_8726delinsGC (p.Ala2909=)
c.5899_5900delinsGC (n.5899_5900delinsGC)
n.4068_4069delinsGC
n.342-3531_342-3530delinsGC
c.5923_5924delinsGC (p.Ala1975=)
c.8884_8885delinsGC (p.Ala2962=)
c.8776_8777delinsGC (p.Ala2926=)
c.8758_8759delinsGC (p.Ala2920=)
c.5530_5531delinsGC (p.Ala1844=)
c.3460_3461delinsGC (p.Ala1154=)
c.8833_8834delinsGC (p.Ala2945=)
c.8779_8780delinsGC (p.Ala2927=)
c.8569_8570delinsGC (p.Ala2857=)
c.8215_8216delinsGC (p.Ala2739=)
c.6112_6113delinsGC (p.Ala2038=)
n.9062_9063delinsGC
c.8698_8699delinsGC (p.Ala2900=)
c.7894_7895delinsGC (p.Ala2632=)
c.7699_7700delinsGC (p.Ala2567=)
n.9111_9112delinsGC
5g.37125315C>ACA359499041CPLANE1n.1886G>T
c.8887G>T (p.Ala2963Ser)
n.748G>T
c.8725G>T (p.Ala2909Ser)
c.5899G>T (n.5899G>T)
n.4068G>T
n.342-3531G>T
c.5923G>T (p.Ala1975Ser)
c.8884G>T (p.Ala2962Ser)
c.8776G>T (p.Ala2926Ser)
c.8758G>T (p.Ala2920Ser)
c.5530G>T (p.Ala1844Ser)
c.3460G>T (p.Ala1154Ser)
c.8833G>T (p.Ala2945Ser)
c.8779G>T (p.Ala2927Ser)
c.8569G>T (p.Ala2857Ser)
c.8215G>T (p.Ala2739Ser)
c.6112G>T (p.Ala2038Ser)
n.9062G>T
c.8698G>T (p.Ala2900Ser)
c.7894G>T (p.Ala2632Ser)
c.7699G>T (p.Ala2567Ser)
n.9111G>T
5g.37125315C=CA1539667640CPLANE1n.1886G=
c.8887G= (p.Ala2963=)
n.748G=
c.8725G= (p.Ala2909=)
c.5899G= (n.5899G=)
n.4068G=
n.342-3531G=
c.5923G= (p.Ala1975=)
c.8884G= (p.Ala2962=)
c.8776G= (p.Ala2926=)
c.8758G= (p.Ala2920=)
c.5530G= (p.Ala1844=)
c.3460G= (p.Ala1154=)
c.8833G= (p.Ala2945=)
c.8779G= (p.Ala2927=)
c.8569G= (p.Ala2857=)
c.8215G= (p.Ala2739=)
c.6112G= (p.Ala2038=)
n.9062G=
c.8698G= (p.Ala2900=)
c.7894G= (p.Ala2632=)
c.7699G= (p.Ala2567=)
n.9111G=
5g.37125315C>GCA359499044CPLANE1n.1886G>C
c.8887G>C (p.Ala2963Pro)
n.748G>C
c.8725G>C (p.Ala2909Pro)
c.5899G>C (n.5899G>C)
n.4068G>C
n.342-3531G>C
c.5923G>C (p.Ala1975Pro)
c.8884G>C (p.Ala2962Pro)
c.8776G>C (p.Ala2926Pro)
c.8758G>C (p.Ala2920Pro)
c.5530G>C (p.Ala1844Pro)
c.3460G>C (p.Ala1154Pro)
c.8833G>C (p.Ala2945Pro)
c.8779G>C (p.Ala2927Pro)
c.8569G>C (p.Ala2857Pro)
c.8215G>C (p.Ala2739Pro)
c.6112G>C (p.Ala2038Pro)
n.9062G>C
c.8698G>C (p.Ala2900Pro)
c.7894G>C (p.Ala2632Pro)
c.7699G>C (p.Ala2567Pro)
n.9111G>C
5g.37125315C>TCA359499045CPLANE1n.1886G>A
c.8887G>A (p.Ala2963Thr)
n.748G>A
c.8725G>A (p.Ala2909Thr)
c.5899G>A (n.5899G>A)
n.4068G>A
n.342-3531G>A
c.5923G>A (p.Ala1975Thr)
c.8884G>A (p.Ala2962Thr)
c.8776G>A (p.Ala2926Thr)
c.8758G>A (p.Ala2920Thr)
c.5530G>A (p.Ala1844Thr)
c.3460G>A (p.Ala1154Thr)
c.8833G>A (p.Ala2945Thr)
c.8779G>A (p.Ala2927Thr)
c.8569G>A (p.Ala2857Thr)
c.8215G>A (p.Ala2739Thr)
c.6112G>A (p.Ala2038Thr)
n.9062G>A
c.8698G>A (p.Ala2900Thr)
c.7894G>A (p.Ala2632Thr)
c.7699G>A (p.Ala2567Thr)
n.9111G>A
 dbSNP
5g.37125316delCA277704CPLANE1n.1886del
c.8887del (p.Ala2963GlnfsTer4)
n.748del
c.8725del (p.Ala2909GlnfsTer4)
c.5899del (n.5899del)
n.4068del
n.342-3531del
c.5923del (p.Ala1975GlnfsTer4)
c.8884del (p.Ala2962GlnfsTer4)
c.8776del (p.Ala2926GlnfsTer4)
c.8758del (p.Ala2920GlnfsTer4)
c.5530del (p.Ala1844GlnfsTer4)
c.3460del (p.Ala1154GlnfsTer4)
c.8833del (p.Ala2945GlnfsTer4)
c.8779del (p.Ala2927GlnfsTer4)
c.8569del (p.Ala2857GlnfsTer4)
c.8215del (p.Ala2739GlnfsTer4)
c.6112del (p.Ala2038GlnfsTer4)
n.9062del
c.8698del (p.Ala2900GlnfsTer4)
c.7894del (p.Ala2632GlnfsTer4)
c.7699del (p.Ala2567GlnfsTer4)
n.9111del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.37125316C>ACA359499046CPLANE1n.1885G>T
c.8886G>T (p.Met2962Ile)
n.747G>T
c.8724G>T (p.Met2908Ile)
c.5898G>T (n.5898G>T)
n.4067G>T
n.342-3532G>T
c.5922G>T (p.Met1974Ile)
c.8883G>T (p.Met2961Ile)
c.8775G>T (p.Met2925Ile)
c.8757G>T (p.Met2919Ile)
c.5529G>T (p.Met1843Ile)
c.3459G>T (p.Met1153Ile)
c.8832G>T (p.Met2944Ile)
c.8778G>T (p.Met2926Ile)
c.8568G>T (p.Met2856Ile)
c.8214G>T (p.Met2738Ile)
c.6111G>T (p.Met2037Ile)
n.9061G>T
c.8697G>T (p.Met2899Ile)
c.7893G>T (p.Met2631Ile)
c.7698G>T (p.Met2566Ile)
n.9110G>T
5g.37125316C>GCA359499047CPLANE1n.1885G>C
c.8886G>C (p.Met2962Ile)
n.747G>C
c.8724G>C (p.Met2908Ile)
c.5898G>C (n.5898G>C)
n.4067G>C
n.342-3532G>C
c.5922G>C (p.Met1974Ile)
c.8883G>C (p.Met2961Ile)
c.8775G>C (p.Met2925Ile)
c.8757G>C (p.Met2919Ile)
c.5529G>C (p.Met1843Ile)
c.3459G>C (p.Met1153Ile)
c.8832G>C (p.Met2944Ile)
c.8778G>C (p.Met2926Ile)
c.8568G>C (p.Met2856Ile)
c.8214G>C (p.Met2738Ile)
c.6111G>C (p.Met2037Ile)
n.9061G>C
c.8697G>C (p.Met2899Ile)
c.7893G>C (p.Met2631Ile)
c.7698G>C (p.Met2566Ile)
n.9110G>C
5g.37125316C>TCA359499049CPLANE1n.1885G>A
c.8886G>A (p.Met2962Ile)
n.747G>A
c.8724G>A (p.Met2908Ile)
c.5898G>A (n.5898G>A)
n.4067G>A
n.342-3532G>A
c.5922G>A (p.Met1974Ile)
c.8883G>A (p.Met2961Ile)
c.8775G>A (p.Met2925Ile)
c.8757G>A (p.Met2919Ile)
c.5529G>A (p.Met1843Ile)
c.3459G>A (p.Met1153Ile)
c.8832G>A (p.Met2944Ile)
c.8778G>A (p.Met2926Ile)
c.8568G>A (p.Met2856Ile)
c.8214G>A (p.Met2738Ile)
c.6111G>A (p.Met2037Ile)
n.9061G>A
c.8697G>A (p.Met2899Ile)
c.7893G>A (p.Met2631Ile)
c.7698G>A (p.Met2566Ile)
n.9110G>A
5g.37125317A=CA1539667642CPLANE1n.1884T=
c.8885T= (p.Met2962=)
n.746T=
c.8723T= (p.Met2908=)
c.5897T= (n.5897T=)
n.4066T=
n.342-3533T=
c.5921T= (p.Met1974=)
c.8882T= (p.Met2961=)
c.8774T= (p.Met2925=)
c.8756T= (p.Met2919=)
c.5528T= (p.Met1843=)
c.3458T= (p.Met1153=)
c.8831T= (p.Met2944=)
c.8777T= (p.Met2926=)
c.8567T= (p.Met2856=)
c.8213T= (p.Met2738=)
c.6110T= (p.Met2037=)
n.9060T=
c.8696T= (p.Met2899=)
c.7892T= (p.Met2631=)
c.7697T= (p.Met2566=)
n.9109T=
5g.37125317A>CCA359499055CPLANE1n.1884T>G
c.8885T>G (p.Met2962Arg)
n.746T>G
c.8723T>G (p.Met2908Arg)
c.5897T>G (n.5897T>G)
n.4066T>G
n.342-3533T>G
c.5921T>G (p.Met1974Arg)
c.8882T>G (p.Met2961Arg)
c.8774T>G (p.Met2925Arg)
c.8756T>G (p.Met2919Arg)
c.5528T>G (p.Met1843Arg)
c.3458T>G (p.Met1153Arg)
c.8831T>G (p.Met2944Arg)
c.8777T>G (p.Met2926Arg)
c.8567T>G (p.Met2856Arg)
c.8213T>G (p.Met2738Arg)
c.6110T>G (p.Met2037Arg)
n.9060T>G
c.8696T>G (p.Met2899Arg)
c.7892T>G (p.Met2631Arg)
c.7697T>G (p.Met2566Arg)
n.9109T>G
5g.37125317A>GCA3237635CPLANE1n.1884T>C
c.8885T>C (p.Met2962Thr)
n.746T>C
c.8723T>C (p.Met2908Thr)
c.5897T>C (n.5897T>C)
n.4066T>C
n.342-3533T>C
c.5921T>C (p.Met1974Thr)
c.8882T>C (p.Met2961Thr)
c.8774T>C (p.Met2925Thr)
c.8756T>C (p.Met2919Thr)
c.5528T>C (p.Met1843Thr)
c.3458T>C (p.Met1153Thr)
c.8831T>C (p.Met2944Thr)
c.8777T>C (p.Met2926Thr)
c.8567T>C (p.Met2856Thr)
c.8213T>C (p.Met2738Thr)
c.6110T>C (p.Met2037Thr)
n.9060T>C
c.8696T>C (p.Met2899Thr)
c.7892T>C (p.Met2631Thr)
c.7697T>C (p.Met2566Thr)
n.9109T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37125317A>TCA359499051CPLANE1n.1884T>A
c.8885T>A (p.Met2962Lys)
n.746T>A
c.8723T>A (p.Met2908Lys)
c.5897T>A (n.5897T>A)
n.4066T>A
n.342-3533T>A
c.5921T>A (p.Met1974Lys)
c.8882T>A (p.Met2961Lys)
c.8774T>A (p.Met2925Lys)
c.8756T>A (p.Met2919Lys)
c.5528T>A (p.Met1843Lys)
c.3458T>A (p.Met1153Lys)
c.8831T>A (p.Met2944Lys)
c.8777T>A (p.Met2926Lys)
c.8567T>A (p.Met2856Lys)
c.8213T>A (p.Met2738Lys)
c.6110T>A (p.Met2037Lys)
n.9060T>A
c.8696T>A (p.Met2899Lys)
c.7892T>A (p.Met2631Lys)
c.7697T>A (p.Met2566Lys)
n.9109T>A
5g.37125318T>ACA359499062CPLANE1n.1883A>T
c.8884A>T (p.Met2962Leu)
n.745A>T
c.8722A>T (p.Met2908Leu)
c.5896A>T (n.5896A>T)
n.4065A>T
n.342-3534A>T
c.5920A>T (p.Met1974Leu)
c.8881A>T (p.Met2961Leu)
c.8773A>T (p.Met2925Leu)
c.8755A>T (p.Met2919Leu)
c.5527A>T (p.Met1843Leu)
c.3457A>T (p.Met1153Leu)
c.8830A>T (p.Met2944Leu)
c.8776A>T (p.Met2926Leu)
c.8566A>T (p.Met2856Leu)
c.8212A>T (p.Met2738Leu)
c.6109A>T (p.Met2037Leu)
n.9059A>T
c.8695A>T (p.Met2899Leu)
c.7891A>T (p.Met2631Leu)
c.7696A>T (p.Met2566Leu)
n.9108A>T
 gnomAD v4
5g.37125318T>CCA359499068CPLANE1n.1883A>G
c.8884A>G (p.Met2962Val)
n.745A>G
c.8722A>G (p.Met2908Val)
c.5896A>G (n.5896A>G)
n.4065A>G
n.342-3534A>G
c.5920A>G (p.Met1974Val)
c.8881A>G (p.Met2961Val)
c.8773A>G (p.Met2925Val)
c.8755A>G (p.Met2919Val)
c.5527A>G (p.Met1843Val)
c.3457A>G (p.Met1153Val)
c.8830A>G (p.Met2944Val)
c.8776A>G (p.Met2926Val)
c.8566A>G (p.Met2856Val)
c.8212A>G (p.Met2738Val)
c.6109A>G (p.Met2037Val)
n.9059A>G
c.8695A>G (p.Met2899Val)
c.7891A>G (p.Met2631Val)
c.7696A>G (p.Met2566Val)
n.9108A>G
5g.37125318T>GCA359499067CPLANE1n.1883A>C
c.8884A>C (p.Met2962Leu)
n.745A>C
c.8722A>C (p.Met2908Leu)
c.5896A>C (n.5896A>C)
n.4065A>C
n.342-3534A>C
c.5920A>C (p.Met1974Leu)
c.8881A>C (p.Met2961Leu)
c.8773A>C (p.Met2925Leu)
c.8755A>C (p.Met2919Leu)
c.5527A>C (p.Met1843Leu)
c.3457A>C (p.Met1153Leu)
c.8830A>C (p.Met2944Leu)
c.8776A>C (p.Met2926Leu)
c.8566A>C (p.Met2856Leu)
c.8212A>C (p.Met2738Leu)
c.6109A>C (p.Met2037Leu)
n.9059A>C
c.8695A>C (p.Met2899Leu)
c.7891A>C (p.Met2631Leu)
c.7696A>C (p.Met2566Leu)
n.9108A>C
5g.37125324_37125327delCA645544872CPLANE1n.1880_1883del
c.8881_8884del (p.Arg2961TrpfsTer5)
n.742_745del
c.8719_8722del (p.Arg2907TrpfsTer5)
c.5893_5896del (n.5893_5896del)
n.4062_4065del
n.342-3537_342-3534del
c.5917_5920del (p.Arg1973TrpfsTer5)
c.8878_8881del (p.Arg2960TrpfsTer5)
c.8770_8773del (p.Arg2924TrpfsTer5)
c.8752_8755del (p.Arg2918TrpfsTer5)
c.5524_5527del (p.Arg1842TrpfsTer5)
c.3454_3457del (p.Arg1152TrpfsTer5)
c.8827_8830del (p.Arg2943TrpfsTer5)
c.8773_8776del (p.Arg2925TrpfsTer5)
c.8563_8566del (p.Arg2855TrpfsTer5)
c.8209_8212del (p.Arg2737TrpfsTer5)
c.6106_6109del (p.Arg2036TrpfsTer5)
n.9056_9059del
c.8692_8695del (p.Arg2898TrpfsTer5)
c.7888_7891del (p.Arg2630TrpfsTer5)
c.7693_7696del (p.Arg2565TrpfsTer5)
n.9105_9108del
 COSMIC COSMIC
5g.37125319T>ACA359499071CPLANE1n.1882A>T
c.8883A>T (p.Arg2961Ser)
n.744A>T
c.8721A>T (p.Arg2907Ser)
c.5895A>T (n.5895A>T)
n.4064A>T
n.342-3535A>T
c.5919A>T (p.Arg1973Ser)
c.8880A>T (p.Arg2960Ser)
c.8772A>T (p.Arg2924Ser)
c.8754A>T (p.Arg2918Ser)
c.5526A>T (p.Arg1842Ser)
c.3456A>T (p.Arg1152Ser)
c.8829A>T (p.Arg2943Ser)
c.8775A>T (p.Arg2925Ser)
c.8565A>T (p.Arg2855Ser)
c.8211A>T (p.Arg2737Ser)
c.6108A>T (p.Arg2036Ser)
n.9058A>T
c.8694A>T (p.Arg2898Ser)
c.7890A>T (p.Arg2630Ser)
c.7695A>T (p.Arg2565Ser)
n.9107A>T
5g.37125319T>CCA443922019CPLANE1n.1882A>G
c.8883A>G (p.Arg2961=)
n.744A>G
c.8721A>G (p.Arg2907=)
c.5895A>G (n.5895A>G)
n.4064A>G
n.342-3535A>G
c.5919A>G (p.Arg1973=)
c.8880A>G (p.Arg2960=)
c.8772A>G (p.Arg2924=)
c.8754A>G (p.Arg2918=)
c.5526A>G (p.Arg1842=)
c.3456A>G (p.Arg1152=)
c.8829A>G (p.Arg2943=)
c.8775A>G (p.Arg2925=)
c.8565A>G (p.Arg2855=)
c.8211A>G (p.Arg2737=)
c.6108A>G (p.Arg2036=)
n.9058A>G
c.8694A>G (p.Arg2898=)
c.7890A>G (p.Arg2630=)
c.7695A>G (p.Arg2565=)
n.9107A>G
5g.37125319T>GCA359499074CPLANE1n.1882A>C
c.8883A>C (p.Arg2961Ser)
n.744A>C
c.8721A>C (p.Arg2907Ser)
c.5895A>C (n.5895A>C)
n.4064A>C
n.342-3535A>C
c.5919A>C (p.Arg1973Ser)
c.8880A>C (p.Arg2960Ser)
c.8772A>C (p.Arg2924Ser)
c.8754A>C (p.Arg2918Ser)
c.5526A>C (p.Arg1842Ser)
c.3456A>C (p.Arg1152Ser)
c.8829A>C (p.Arg2943Ser)
c.8775A>C (p.Arg2925Ser)
c.8565A>C (p.Arg2855Ser)
c.8211A>C (p.Arg2737Ser)
c.6108A>C (p.Arg2036Ser)
n.9058A>C
c.8694A>C (p.Arg2898Ser)
c.7890A>C (p.Arg2630Ser)
c.7695A>C (p.Arg2565Ser)
n.9107A>C
5g.37125320C>ACA359499080CPLANE1n.1881G>T
c.8882G>T (p.Arg2961Ile)
n.743G>T
c.8720G>T (p.Arg2907Ile)
c.5894G>T (n.5894G>T)
n.4063G>T
n.342-3536G>T
c.5918G>T (p.Arg1973Ile)
c.8879G>T (p.Arg2960Ile)
c.8771G>T (p.Arg2924Ile)
c.8753G>T (p.Arg2918Ile)
c.5525G>T (p.Arg1842Ile)
c.3455G>T (p.Arg1152Ile)
c.8828G>T (p.Arg2943Ile)
c.8774G>T (p.Arg2925Ile)
c.8564G>T (p.Arg2855Ile)
c.8210G>T (p.Arg2737Ile)
c.6107G>T (p.Arg2036Ile)
n.9057G>T
c.8693G>T (p.Arg2898Ile)
c.7889G>T (p.Arg2630Ile)
c.7694G>T (p.Arg2565Ile)
n.9106G>T
5g.37125320C>GCA359499082CPLANE1n.1881G>C
c.8882G>C (p.Arg2961Thr)
n.743G>C
c.8720G>C (p.Arg2907Thr)
c.5894G>C (n.5894G>C)
n.4063G>C
n.342-3536G>C
c.5918G>C (p.Arg1973Thr)
c.8879G>C (p.Arg2960Thr)
c.8771G>C (p.Arg2924Thr)
c.8753G>C (p.Arg2918Thr)
c.5525G>C (p.Arg1842Thr)
c.3455G>C (p.Arg1152Thr)
c.8828G>C (p.Arg2943Thr)
c.8774G>C (p.Arg2925Thr)
c.8564G>C (p.Arg2855Thr)
c.8210G>C (p.Arg2737Thr)
c.6107G>C (p.Arg2036Thr)
n.9057G>C
c.8693G>C (p.Arg2898Thr)
c.7889G>C (p.Arg2630Thr)
c.7694G>C (p.Arg2565Thr)
n.9106G>C
 gnomAD v4
5g.37125320C>TCA359499085CPLANE1n.1881G>A
c.8882G>A (p.Arg2961Lys)
n.743G>A
c.8720G>A (p.Arg2907Lys)
c.5894G>A (n.5894G>A)
n.4063G>A
n.342-3536G>A
c.5918G>A (p.Arg1973Lys)
c.8879G>A (p.Arg2960Lys)
c.8771G>A (p.Arg2924Lys)
c.8753G>A (p.Arg2918Lys)
c.5525G>A (p.Arg1842Lys)
c.3455G>A (p.Arg1152Lys)
c.8828G>A (p.Arg2943Lys)
c.8774G>A (p.Arg2925Lys)
c.8564G>A (p.Arg2855Lys)
c.8210G>A (p.Arg2737Lys)
c.6107G>A (p.Arg2036Lys)
n.9057G>A
c.8693G>A (p.Arg2898Lys)
c.7889G>A (p.Arg2630Lys)
c.7694G>A (p.Arg2565Lys)
n.9106G>A
5g.37125321T>ACA359499087CPLANE1n.1880A>T
c.8881A>T (p.Arg2961Ter)
n.742A>T
c.8719A>T (p.Arg2907Ter)
c.5893A>T (n.5893A>T)
n.4062A>T
n.342-3537A>T
c.5917A>T (p.Arg1973Ter)
c.8878A>T (p.Arg2960Ter)
c.8770A>T (p.Arg2924Ter)
c.8752A>T (p.Arg2918Ter)
c.5524A>T (p.Arg1842Ter)
c.3454A>T (p.Arg1152Ter)
c.8827A>T (p.Arg2943Ter)
c.8773A>T (p.Arg2925Ter)
c.8563A>T (p.Arg2855Ter)
c.8209A>T (p.Arg2737Ter)
c.6106A>T (p.Arg2036Ter)
n.9056A>T
c.8692A>T (p.Arg2898Ter)
c.7888A>T (p.Arg2630Ter)
c.7693A>T (p.Arg2565Ter)
n.9105A>T
5g.37125321T>CCA3237636CPLANE1n.1880A>G
c.8881A>G (p.Arg2961Gly)
n.742A>G
c.8719A>G (p.Arg2907Gly)
c.5893A>G (n.5893A>G)
n.4062A>G
n.342-3537A>G
c.5917A>G (p.Arg1973Gly)
c.8878A>G (p.Arg2960Gly)
c.8770A>G (p.Arg2924Gly)
c.8752A>G (p.Arg2918Gly)
c.5524A>G (p.Arg1842Gly)
c.3454A>G (p.Arg1152Gly)
c.8827A>G (p.Arg2943Gly)
c.8773A>G (p.Arg2925Gly)
c.8563A>G (p.Arg2855Gly)
c.8209A>G (p.Arg2737Gly)
c.6106A>G (p.Arg2036Gly)
n.9056A>G
c.8692A>G (p.Arg2898Gly)
c.7888A>G (p.Arg2630Gly)
c.7693A>G (p.Arg2565Gly)
n.9105A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37125321T>GCA443922020CPLANE1n.1880A>C
c.8881A>C (p.Arg2961=)
n.742A>C
c.8719A>C (p.Arg2907=)
c.5893A>C (n.5893A>C)
n.4062A>C
n.342-3537A>C
c.5917A>C (p.Arg1973=)
c.8878A>C (p.Arg2960=)
c.8770A>C (p.Arg2924=)
c.8752A>C (p.Arg2918=)
c.5524A>C (p.Arg1842=)
c.3454A>C (p.Arg1152=)
c.8827A>C (p.Arg2943=)
c.8773A>C (p.Arg2925=)
c.8563A>C (p.Arg2855=)
c.8209A>C (p.Arg2737=)
c.6106A>C (p.Arg2036=)
n.9056A>C
c.8692A>C (p.Arg2898=)
c.7888A>C (p.Arg2630=)
c.7693A>C (p.Arg2565=)
n.9105A>C
5g.37125321T=CA1539667644CPLANE1n.1880A=
c.8881A= (p.Arg2961=)
n.742A=
c.8719A= (p.Arg2907=)
c.5893A= (n.5893A=)
n.4062A=
n.342-3537A=
c.5917A= (p.Arg1973=)
c.8878A= (p.Arg2960=)
c.8770A= (p.Arg2924=)
c.8752A= (p.Arg2918=)
c.5524A= (p.Arg1842=)
c.3454A= (p.Arg1152=)
c.8827A= (p.Arg2943=)
c.8773A= (p.Arg2925=)
c.8563A= (p.Arg2855=)
c.8209A= (p.Arg2737=)
c.6106A= (p.Arg2036=)
n.9056A=
c.8692A= (p.Arg2898=)
c.7888A= (p.Arg2630=)
c.7693A= (p.Arg2565=)
n.9105A=
5g.37125323delCA2673580098CPLANE1n.1880del
c.8881del (p.Arg2961GlufsTer6)
n.742del
c.8719del (p.Arg2907GlufsTer6)
c.5893del (n.5893del)
n.4062del
n.342-3537del
c.5917del (p.Arg1973GlufsTer6)
c.8878del (p.Arg2960GlufsTer6)
c.8770del (p.Arg2924GlufsTer6)
c.8752del (p.Arg2918GlufsTer6)
c.5524del (p.Arg1842GlufsTer6)
c.3454del (p.Arg1152GlufsTer6)
c.8827del (p.Arg2943GlufsTer6)
c.8773del (p.Arg2925GlufsTer6)
c.8563del (p.Arg2855GlufsTer6)
c.8209del (p.Arg2737GlufsTer6)
c.6106del (p.Arg2036GlufsTer6)
n.9056del
c.8692del (p.Arg2898GlufsTer6)
c.7888del (p.Arg2630GlufsTer6)
c.7693del (p.Arg2565GlufsTer6)
n.9105del
 gnomAD v4
5g.37125322T>ACA359499089CPLANE1n.1879A>T
c.8880A>T (p.Glu2960Asp)
n.741A>T
c.8718A>T (p.Glu2906Asp)
c.5892A>T (n.5892A>T)
n.4061A>T
n.342-3538A>T
c.5916A>T (p.Glu1972Asp)
c.8877A>T (p.Glu2959Asp)
c.8769A>T (p.Glu2923Asp)
c.8751A>T (p.Glu2917Asp)
c.5523A>T (p.Glu1841Asp)
c.3453A>T (p.Glu1151Asp)
c.8826A>T (p.Glu2942Asp)
c.8772A>T (p.Glu2924Asp)
c.8562A>T (p.Glu2854Asp)
c.8208A>T (p.Glu2736Asp)
c.6105A>T (p.Glu2035Asp)
n.9055A>T
c.8691A>T (p.Glu2897Asp)
c.7887A>T (p.Glu2629Asp)
c.7692A>T (p.Glu2564Asp)
n.9104A>T
5g.37125322T>CCA443922021CPLANE1n.1879A>G
c.8880A>G (p.Glu2960=)
n.741A>G
c.8718A>G (p.Glu2906=)
c.5892A>G (n.5892A>G)
n.4061A>G
n.342-3538A>G
c.5916A>G (p.Glu1972=)
c.8877A>G (p.Glu2959=)
c.8769A>G (p.Glu2923=)
c.8751A>G (p.Glu2917=)
c.5523A>G (p.Glu1841=)
c.3453A>G (p.Glu1151=)
c.8826A>G (p.Glu2942=)
c.8772A>G (p.Glu2924=)
c.8562A>G (p.Glu2854=)
c.8208A>G (p.Glu2736=)
c.6105A>G (p.Glu2035=)
n.9055A>G
c.8691A>G (p.Glu2897=)
c.7887A>G (p.Glu2629=)
c.7692A>G (p.Glu2564=)
n.9104A>G
5g.37125322T>GCA359499092CPLANE1n.1879A>C
c.8880A>C (p.Glu2960Asp)
n.741A>C
c.8718A>C (p.Glu2906Asp)
c.5892A>C (n.5892A>C)
n.4061A>C
n.342-3538A>C
c.5916A>C (p.Glu1972Asp)
c.8877A>C (p.Glu2959Asp)
c.8769A>C (p.Glu2923Asp)
c.8751A>C (p.Glu2917Asp)
c.5523A>C (p.Glu1841Asp)
c.3453A>C (p.Glu1151Asp)
c.8826A>C (p.Glu2942Asp)
c.8772A>C (p.Glu2924Asp)
c.8562A>C (p.Glu2854Asp)
c.8208A>C (p.Glu2736Asp)
c.6105A>C (p.Glu2035Asp)
n.9055A>C
c.8691A>C (p.Glu2897Asp)
c.7887A>C (p.Glu2629Asp)
c.7692A>C (p.Glu2564Asp)
n.9104A>C
5g.37125323T>ACA359499095CPLANE1n.1878A>T
c.8879A>T (p.Glu2960Val)
n.740A>T
c.8717A>T (p.Glu2906Val)
c.5891A>T (n.5891A>T)
n.4060A>T
n.342-3539A>T
c.5915A>T (p.Glu1972Val)
c.8876A>T (p.Glu2959Val)
c.8768A>T (p.Glu2923Val)
c.8750A>T (p.Glu2917Val)
c.5522A>T (p.Glu1841Val)
c.3452A>T (p.Glu1151Val)
c.8825A>T (p.Glu2942Val)
c.8771A>T (p.Glu2924Val)
c.8561A>T (p.Glu2854Val)
c.8207A>T (p.Glu2736Val)
c.6104A>T (p.Glu2035Val)
n.9054A>T
c.8690A>T (p.Glu2897Val)
c.7886A>T (p.Glu2629Val)
c.7691A>T (p.Glu2564Val)
n.9103A>T
5g.37125323T>CCA359499100CPLANE1n.1878A>G
c.8879A>G (p.Glu2960Gly)
n.740A>G
c.8717A>G (p.Glu2906Gly)
c.5891A>G (n.5891A>G)
n.4060A>G
n.342-3539A>G
c.5915A>G (p.Glu1972Gly)
c.8876A>G (p.Glu2959Gly)
c.8768A>G (p.Glu2923Gly)
c.8750A>G (p.Glu2917Gly)
c.5522A>G (p.Glu1841Gly)
c.3452A>G (p.Glu1151Gly)
c.8825A>G (p.Glu2942Gly)
c.8771A>G (p.Glu2924Gly)
c.8561A>G (p.Glu2854Gly)
c.8207A>G (p.Glu2736Gly)
c.6104A>G (p.Glu2035Gly)
n.9054A>G
c.8690A>G (p.Glu2897Gly)
c.7886A>G (p.Glu2629Gly)
c.7691A>G (p.Glu2564Gly)
n.9103A>G
 dbSNP gnomAD v2 gnomAD v4
5g.37125323T>GCA359499102CPLANE1n.1878A>C
c.8879A>C (p.Glu2960Ala)
n.740A>C
c.8717A>C (p.Glu2906Ala)
c.5891A>C (n.5891A>C)
n.4060A>C
n.342-3539A>C
c.5915A>C (p.Glu1972Ala)
c.8876A>C (p.Glu2959Ala)
c.8768A>C (p.Glu2923Ala)
c.8750A>C (p.Glu2917Ala)
c.5522A>C (p.Glu1841Ala)
c.3452A>C (p.Glu1151Ala)
c.8825A>C (p.Glu2942Ala)
c.8771A>C (p.Glu2924Ala)
c.8561A>C (p.Glu2854Ala)
c.8207A>C (p.Glu2736Ala)
c.6104A>C (p.Glu2035Ala)
n.9054A>C
c.8690A>C (p.Glu2897Ala)
c.7886A>C (p.Glu2629Ala)
c.7691A>C (p.Glu2564Ala)
n.9103A>C
5g.37125323T=CA1539667647CPLANE1n.1878A=
c.8879A= (p.Glu2960=)
n.740A=
c.8717A= (p.Glu2906=)
c.5891A= (n.5891A=)
n.4060A=
n.342-3539A=
c.5915A= (p.Glu1972=)
c.8876A= (p.Glu2959=)
c.8768A= (p.Glu2923=)
c.8750A= (p.Glu2917=)
c.5522A= (p.Glu1841=)
c.3452A= (p.Glu1151=)
c.8825A= (p.Glu2942=)
c.8771A= (p.Glu2924=)
c.8561A= (p.Glu2854=)
c.8207A= (p.Glu2736=)
c.6104A= (p.Glu2035=)
n.9054A=
c.8690A= (p.Glu2897=)
c.7886A= (p.Glu2629=)
c.7691A= (p.Glu2564=)
n.9103A=
5g.37125324C>ACA279349CPLANE1n.1877G>T
c.8878G>T (p.Glu2960Ter)
n.739G>T
c.8716G>T (p.Glu2906Ter)
c.5890G>T (n.5890G>T)
n.4059G>T
n.342-3540G>T
c.5914G>T (p.Glu1972Ter)
c.8875G>T (p.Glu2959Ter)
c.8767G>T (p.Glu2923Ter)
c.8749G>T (p.Glu2917Ter)
c.5521G>T (p.Glu1841Ter)
c.3451G>T (p.Glu1151Ter)
c.8824G>T (p.Glu2942Ter)
c.8770G>T (p.Glu2924Ter)
c.8560G>T (p.Glu2854Ter)
c.8206G>T (p.Glu2736Ter)
c.6103G>T (p.Glu2035Ter)
n.9053G>T
c.8689G>T (p.Glu2897Ter)
c.7885G>T (p.Glu2629Ter)
c.7690G>T (p.Glu2564Ter)
n.9102G>T
 ClinVar dbSNP COSMIC COSMIC
5g.37125324C=CA1539667650CPLANE1n.1877G=
c.8878G= (p.Glu2960=)
n.739G=
c.8716G= (p.Glu2906=)
c.5890G= (n.5890G=)
n.4059G=
n.342-3540G=
c.5914G= (p.Glu1972=)
c.8875G= (p.Glu2959=)
c.8767G= (p.Glu2923=)
c.8749G= (p.Glu2917=)
c.5521G= (p.Glu1841=)
c.3451G= (p.Glu1151=)
c.8824G= (p.Glu2942=)
c.8770G= (p.Glu2924=)
c.8560G= (p.Glu2854=)
c.8206G= (p.Glu2736=)
c.6103G= (p.Glu2035=)
n.9053G=
c.8689G= (p.Glu2897=)
c.7885G= (p.Glu2629=)
c.7690G= (p.Glu2564=)
n.9102G=
5g.37125324C>GCA359499108CPLANE1n.1877G>C
c.8878G>C (p.Glu2960Gln)
n.739G>C
c.8716G>C (p.Glu2906Gln)
c.5890G>C (n.5890G>C)
n.4059G>C
n.342-3540G>C
c.5914G>C (p.Glu1972Gln)
c.8875G>C (p.Glu2959Gln)
c.8767G>C (p.Glu2923Gln)
c.8749G>C (p.Glu2917Gln)
c.5521G>C (p.Glu1841Gln)
c.3451G>C (p.Glu1151Gln)
c.8824G>C (p.Glu2942Gln)
c.8770G>C (p.Glu2924Gln)
c.8560G>C (p.Glu2854Gln)
c.8206G>C (p.Glu2736Gln)
c.6103G>C (p.Glu2035Gln)
n.9053G>C
c.8689G>C (p.Glu2897Gln)
c.7885G>C (p.Glu2629Gln)
c.7690G>C (p.Glu2564Gln)
n.9102G>C
5g.37125324C>TCA359499116CPLANE1n.1877G>A
c.8878G>A (p.Glu2960Lys)
n.739G>A
c.8716G>A (p.Glu2906Lys)
c.5890G>A (n.5890G>A)
n.4059G>A
n.342-3540G>A
c.5914G>A (p.Glu1972Lys)
c.8875G>A (p.Glu2959Lys)
c.8767G>A (p.Glu2923Lys)
c.8749G>A (p.Glu2917Lys)
c.5521G>A (p.Glu1841Lys)
c.3451G>A (p.Glu1151Lys)
c.8824G>A (p.Glu2942Lys)
c.8770G>A (p.Glu2924Lys)
c.8560G>A (p.Glu2854Lys)
c.8206G>A (p.Glu2736Lys)
c.6103G>A (p.Glu2035Lys)
n.9053G>A
c.8689G>A (p.Glu2897Lys)
c.7885G>A (p.Glu2629Lys)
c.7690G>A (p.Glu2564Lys)
n.9102G>A
5g.37125325T>ACA359499120CPLANE1n.1876A>T
c.8877A>T (p.Lys2959Asn)
n.738A>T
c.8715A>T (p.Lys2905Asn)
c.5889A>T (n.5889A>T)
n.4058A>T
n.342-3541A>T
c.5913A>T (p.Lys1971Asn)
c.8874A>T (p.Lys2958Asn)
c.8766A>T (p.Lys2922Asn)
c.8748A>T (p.Lys2916Asn)
c.5520A>T (p.Lys1840Asn)
c.3450A>T (p.Lys1150Asn)
c.8823A>T (p.Lys2941Asn)
c.8769A>T (p.Lys2923Asn)
c.8559A>T (p.Lys2853Asn)
c.8205A>T (p.Lys2735Asn)
c.6102A>T (p.Lys2034Asn)
n.9052A>T
c.8688A>T (p.Lys2896Asn)
c.7884A>T (p.Lys2628Asn)
c.7689A>T (p.Lys2563Asn)
n.9101A>T
5g.37125325T>CCA443922023CPLANE1n.1876A>G
c.8877A>G (p.Lys2959=)
n.738A>G
c.8715A>G (p.Lys2905=)
c.5889A>G (n.5889A>G)
n.4058A>G
n.342-3541A>G
c.5913A>G (p.Lys1971=)
c.8874A>G (p.Lys2958=)
c.8766A>G (p.Lys2922=)
c.8748A>G (p.Lys2916=)
c.5520A>G (p.Lys1840=)
c.3450A>G (p.Lys1150=)
c.8823A>G (p.Lys2941=)
c.8769A>G (p.Lys2923=)
c.8559A>G (p.Lys2853=)
c.8205A>G (p.Lys2735=)
c.6102A>G (p.Lys2034=)
n.9052A>G
c.8688A>G (p.Lys2896=)
c.7884A>G (p.Lys2628=)
c.7689A>G (p.Lys2563=)
n.9101A>G
 gnomAD v4
5g.37125325T>GCA117059236CPLANE1n.1876A>C
c.8877A>C (p.Lys2959Asn)
n.738A>C
c.8715A>C (p.Lys2905Asn)
c.5889A>C (n.5889A>C)
n.4058A>C
n.342-3541A>C
c.5913A>C (p.Lys1971Asn)
c.8874A>C (p.Lys2958Asn)
c.8766A>C (p.Lys2922Asn)
c.8748A>C (p.Lys2916Asn)
c.5520A>C (p.Lys1840Asn)
c.3450A>C (p.Lys1150Asn)
c.8823A>C (p.Lys2941Asn)
c.8769A>C (p.Lys2923Asn)
c.8559A>C (p.Lys2853Asn)
c.8205A>C (p.Lys2735Asn)
c.6102A>C (p.Lys2034Asn)
n.9052A>C
c.8688A>C (p.Lys2896Asn)
c.7884A>C (p.Lys2628Asn)
c.7689A>C (p.Lys2563Asn)
n.9101A>C
 dbSNP
5g.37125325T=CA1539667653CPLANE1n.1876A=
c.8877A= (p.Lys2959=)
n.738A=
c.8715A= (p.Lys2905=)
c.5889A= (n.5889A=)
n.4058A=
n.342-3541A=
c.5913A= (p.Lys1971=)
c.8874A= (p.Lys2958=)
c.8766A= (p.Lys2922=)
c.8748A= (p.Lys2916=)
c.5520A= (p.Lys1840=)
c.3450A= (p.Lys1150=)
c.8823A= (p.Lys2941=)
c.8769A= (p.Lys2923=)
c.8559A= (p.Lys2853=)
c.8205A= (p.Lys2735=)
c.6102A= (p.Lys2034=)
n.9052A=
c.8688A= (p.Lys2896=)
c.7884A= (p.Lys2628=)
c.7689A= (p.Lys2563=)
n.9101A=
5g.37125326T>ACA359499126CPLANE1n.1875A>T
c.8876A>T (p.Lys2959Ile)
n.737A>T
c.8714A>T (p.Lys2905Ile)
c.5888A>T (n.5888A>T)
n.4057A>T
n.342-3542A>T
c.5912A>T (p.Lys1971Ile)
c.8873A>T (p.Lys2958Ile)
c.8765A>T (p.Lys2922Ile)
c.8747A>T (p.Lys2916Ile)
c.5519A>T (p.Lys1840Ile)
c.3449A>T (p.Lys1150Ile)
c.8822A>T (p.Lys2941Ile)
c.8768A>T (p.Lys2923Ile)
c.8558A>T (p.Lys2853Ile)
c.8204A>T (p.Lys2735Ile)
c.6101A>T (p.Lys2034Ile)
n.9051A>T
c.8687A>T (p.Lys2896Ile)
c.7883A>T (p.Lys2628Ile)
c.7688A>T (p.Lys2563Ile)
n.9100A>T
5g.37125326T>CCA359499127CPLANE1n.1875A>G
c.8876A>G (p.Lys2959Arg)
n.737A>G
c.8714A>G (p.Lys2905Arg)
c.5888A>G (n.5888A>G)
n.4057A>G
n.342-3542A>G
c.5912A>G (p.Lys1971Arg)
c.8873A>G (p.Lys2958Arg)
c.8765A>G (p.Lys2922Arg)
c.8747A>G (p.Lys2916Arg)
c.5519A>G (p.Lys1840Arg)
c.3449A>G (p.Lys1150Arg)
c.8822A>G (p.Lys2941Arg)
c.8768A>G (p.Lys2923Arg)
c.8558A>G (p.Lys2853Arg)
c.8204A>G (p.Lys2735Arg)
c.6101A>G (p.Lys2034Arg)
n.9051A>G
c.8687A>G (p.Lys2896Arg)
c.7883A>G (p.Lys2628Arg)
c.7688A>G (p.Lys2563Arg)
n.9100A>G
5g.37125326T>GCA359499133CPLANE1n.1875A>C
c.8876A>C (p.Lys2959Thr)
n.737A>C
c.8714A>C (p.Lys2905Thr)
c.5888A>C (n.5888A>C)
n.4057A>C
n.342-3542A>C
c.5912A>C (p.Lys1971Thr)
c.8873A>C (p.Lys2958Thr)
c.8765A>C (p.Lys2922Thr)
c.8747A>C (p.Lys2916Thr)
c.5519A>C (p.Lys1840Thr)
c.3449A>C (p.Lys1150Thr)
c.8822A>C (p.Lys2941Thr)
c.8768A>C (p.Lys2923Thr)
c.8558A>C (p.Lys2853Thr)
c.8204A>C (p.Lys2735Thr)
c.6101A>C (p.Lys2034Thr)
n.9051A>C
c.8687A>C (p.Lys2896Thr)
c.7883A>C (p.Lys2628Thr)
c.7688A>C (p.Lys2563Thr)
n.9100A>C
5g.37125327T>ACA359499136CPLANE1n.1874A>T
c.8875A>T (p.Lys2959Ter)
n.736A>T
c.8713A>T (p.Lys2905Ter)
c.5887A>T (n.5887A>T)
n.4056A>T
n.342-3543A>T
c.5911A>T (p.Lys1971Ter)
c.8872A>T (p.Lys2958Ter)
c.8764A>T (p.Lys2922Ter)
c.8746A>T (p.Lys2916Ter)
c.5518A>T (p.Lys1840Ter)
c.3448A>T (p.Lys1150Ter)
c.8821A>T (p.Lys2941Ter)
c.8767A>T (p.Lys2923Ter)
c.8557A>T (p.Lys2853Ter)
c.8203A>T (p.Lys2735Ter)
c.6100A>T (p.Lys2034Ter)
n.9050A>T
c.8686A>T (p.Lys2896Ter)
c.7882A>T (p.Lys2628Ter)
c.7687A>T (p.Lys2563Ter)
n.9099A>T
5g.37125327T>CCA359499143CPLANE1n.1874A>G
c.8875A>G (p.Lys2959Glu)
n.736A>G
c.8713A>G (p.Lys2905Glu)
c.5887A>G (n.5887A>G)
n.4056A>G
n.342-3543A>G
c.5911A>G (p.Lys1971Glu)
c.8872A>G (p.Lys2958Glu)
c.8764A>G (p.Lys2922Glu)
c.8746A>G (p.Lys2916Glu)
c.5518A>G (p.Lys1840Glu)
c.3448A>G (p.Lys1150Glu)
c.8821A>G (p.Lys2941Glu)
c.8767A>G (p.Lys2923Glu)
c.8557A>G (p.Lys2853Glu)
c.8203A>G (p.Lys2735Glu)
c.6100A>G (p.Lys2034Glu)
n.9050A>G
c.8686A>G (p.Lys2896Glu)
c.7882A>G (p.Lys2628Glu)
c.7687A>G (p.Lys2563Glu)
n.9099A>G
5g.37125327T>GCA359499146CPLANE1n.1874A>C
c.8875A>C (p.Lys2959Gln)
n.736A>C
c.8713A>C (p.Lys2905Gln)
c.5887A>C (n.5887A>C)
n.4056A>C
n.342-3543A>C
c.5911A>C (p.Lys1971Gln)
c.8872A>C (p.Lys2958Gln)
c.8764A>C (p.Lys2922Gln)
c.8746A>C (p.Lys2916Gln)
c.5518A>C (p.Lys1840Gln)
c.3448A>C (p.Lys1150Gln)
c.8821A>C (p.Lys2941Gln)
c.8767A>C (p.Lys2923Gln)
c.8557A>C (p.Lys2853Gln)
c.8203A>C (p.Lys2735Gln)
c.6100A>C (p.Lys2034Gln)
n.9050A>C
c.8686A>C (p.Lys2896Gln)
c.7882A>C (p.Lys2628Gln)
c.7687A>C (p.Lys2563Gln)
n.9099A>C
5g.37125328T>ACA443922025CPLANE1n.1873A>T
c.8874A>T (p.Arg2958=)
n.735A>T
c.8712A>T (p.Arg2904=)
c.5886A>T (n.5886A>T)
n.4055A>T
n.342-3544A>T
c.5910A>T (p.Arg1970=)
c.8871A>T (p.Arg2957=)
c.8763A>T (p.Arg2921=)
c.8745A>T (p.Arg2915=)
c.5517A>T (p.Arg1839=)
c.3447A>T (p.Arg1149=)
c.8820A>T (p.Arg2940=)
c.8766A>T (p.Arg2922=)
c.8556A>T (p.Arg2852=)
c.8202A>T (p.Arg2734=)
c.6099A>T (p.Arg2033=)
n.9049A>T
c.8685A>T (p.Arg2895=)
c.7881A>T (p.Arg2627=)
c.7686A>T (p.Arg2562=)
n.9098A>T
5g.37125328T>CCA443922027CPLANE1n.1873A>G
c.8874A>G (p.Arg2958=)
n.735A>G
c.8712A>G (p.Arg2904=)
c.5886A>G (n.5886A>G)
n.4055A>G
n.342-3544A>G
c.5910A>G (p.Arg1970=)
c.8871A>G (p.Arg2957=)
c.8763A>G (p.Arg2921=)
c.8745A>G (p.Arg2915=)
c.5517A>G (p.Arg1839=)
c.3447A>G (p.Arg1149=)
c.8820A>G (p.Arg2940=)
c.8766A>G (p.Arg2922=)
c.8556A>G (p.Arg2852=)
c.8202A>G (p.Arg2734=)
c.6099A>G (p.Arg2033=)
n.9049A>G
c.8685A>G (p.Arg2895=)
c.7881A>G (p.Arg2627=)
c.7686A>G (p.Arg2562=)
n.9098A>G
 ClinVar dbSNP gnomAD v4
5g.37125328T>GCA443922026CPLANE1n.1873A>C
c.8874A>C (p.Arg2958=)
n.735A>C
c.8712A>C (p.Arg2904=)
c.5886A>C (n.5886A>C)
n.4055A>C
n.342-3544A>C
c.5910A>C (p.Arg1970=)
c.8871A>C (p.Arg2957=)
c.8763A>C (p.Arg2921=)
c.8745A>C (p.Arg2915=)
c.5517A>C (p.Arg1839=)
c.3447A>C (p.Arg1149=)
c.8820A>C (p.Arg2940=)
c.8766A>C (p.Arg2922=)
c.8556A>C (p.Arg2852=)
c.8202A>C (p.Arg2734=)
c.6099A>C (p.Arg2033=)
n.9049A>C
c.8685A>C (p.Arg2895=)
c.7881A>C (p.Arg2627=)
c.7686A>C (p.Arg2562=)
n.9098A>C
5g.37125329C>ACA359499147CPLANE1n.1872G>T
c.8873G>T (p.Arg2958Leu)
n.734G>T
c.8711G>T (p.Arg2904Leu)
c.5885G>T (n.5885G>T)
n.4054G>T
n.342-3545G>T
c.5909G>T (p.Arg1970Leu)
c.8870G>T (p.Arg2957Leu)
c.8762G>T (p.Arg2921Leu)
c.8744G>T (p.Arg2915Leu)
c.5516G>T (p.Arg1839Leu)
c.3446G>T (p.Arg1149Leu)
c.8819G>T (p.Arg2940Leu)
c.8765G>T (p.Arg2922Leu)
c.8555G>T (p.Arg2852Leu)
c.8201G>T (p.Arg2734Leu)
c.6098G>T (p.Arg2033Leu)
n.9048G>T
c.8684G>T (p.Arg2895Leu)
c.7880G>T (p.Arg2627Leu)
c.7685G>T (p.Arg2562Leu)
n.9097G>T
5g.37125329C=CA1539667655CPLANE1n.1872G=
c.8873G= (p.Arg2958=)
n.734G=
c.8711G= (p.Arg2904=)
c.5885G= (n.5885G=)
n.4054G=
n.342-3545G=
c.5909G= (p.Arg1970=)
c.8870G= (p.Arg2957=)
c.8762G= (p.Arg2921=)
c.8744G= (p.Arg2915=)
c.5516G= (p.Arg1839=)
c.3446G= (p.Arg1149=)
c.8819G= (p.Arg2940=)
c.8765G= (p.Arg2922=)
c.8555G= (p.Arg2852=)
c.8201G= (p.Arg2734=)
c.6098G= (p.Arg2033=)
n.9048G=
c.8684G= (p.Arg2895=)
c.7880G= (p.Arg2627=)
c.7685G= (p.Arg2562=)
n.9097G=
5g.37125329C>GCA359499151CPLANE1n.1872G>C
c.8873G>C (p.Arg2958Pro)
n.734G>C
c.8711G>C (p.Arg2904Pro)
c.5885G>C (n.5885G>C)
n.4054G>C
n.342-3545G>C
c.5909G>C (p.Arg1970Pro)
c.8870G>C (p.Arg2957Pro)
c.8762G>C (p.Arg2921Pro)
c.8744G>C (p.Arg2915Pro)
c.5516G>C (p.Arg1839Pro)
c.3446G>C (p.Arg1149Pro)
c.8819G>C (p.Arg2940Pro)
c.8765G>C (p.Arg2922Pro)
c.8555G>C (p.Arg2852Pro)
c.8201G>C (p.Arg2734Pro)
c.6098G>C (p.Arg2033Pro)
n.9048G>C
c.8684G>C (p.Arg2895Pro)
c.7880G>C (p.Arg2627Pro)
c.7685G>C (p.Arg2562Pro)
n.9097G>C
5g.37125329C>TCA3237637CPLANE1n.1872G>A
c.8873G>A (p.Arg2958Gln)
n.734G>A
c.8711G>A (p.Arg2904Gln)
c.5885G>A (n.5885G>A)
n.4054G>A
n.342-3545G>A
c.5909G>A (p.Arg1970Gln)
c.8870G>A (p.Arg2957Gln)
c.8762G>A (p.Arg2921Gln)
c.8744G>A (p.Arg2915Gln)
c.5516G>A (p.Arg1839Gln)
c.3446G>A (p.Arg1149Gln)
c.8819G>A (p.Arg2940Gln)
c.8765G>A (p.Arg2922Gln)
c.8555G>A (p.Arg2852Gln)
c.8201G>A (p.Arg2734Gln)
c.6098G>A (p.Arg2033Gln)
n.9048G>A
c.8684G>A (p.Arg2895Gln)
c.7880G>A (p.Arg2627Gln)
c.7685G>A (p.Arg2562Gln)
n.9097G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37125330G>ACA277713CPLANE1n.1871C>T
c.8872C>T (p.Arg2958Ter)
n.733C>T
c.8710C>T (p.Arg2904Ter)
c.5884C>T (n.5884C>T)
n.4053C>T
n.342-3546C>T
c.5908C>T (p.Arg1970Ter)
c.8869C>T (p.Arg2957Ter)
c.8761C>T (p.Arg2921Ter)
c.8743C>T (p.Arg2915Ter)
c.5515C>T (p.Arg1839Ter)
c.3445C>T (p.Arg1149Ter)
c.8818C>T (p.Arg2940Ter)
c.8764C>T (p.Arg2922Ter)
c.8554C>T (p.Arg2852Ter)
c.8200C>T (p.Arg2734Ter)
c.6097C>T (p.Arg2033Ter)
n.9047C>T
c.8683C>T (p.Arg2895Ter)
c.7879C>T (p.Arg2627Ter)
c.7684C>T (p.Arg2562Ter)
n.9096C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37125330G>CCA359499156CPLANE1n.1871C>G
c.8872C>G (p.Arg2958Gly)
n.733C>G
c.8710C>G (p.Arg2904Gly)
c.5884C>G (n.5884C>G)
n.4053C>G
n.342-3546C>G
c.5908C>G (p.Arg1970Gly)
c.8869C>G (p.Arg2957Gly)
c.8761C>G (p.Arg2921Gly)
c.8743C>G (p.Arg2915Gly)
c.5515C>G (p.Arg1839Gly)
c.3445C>G (p.Arg1149Gly)
c.8818C>G (p.Arg2940Gly)
c.8764C>G (p.Arg2922Gly)
c.8554C>G (p.Arg2852Gly)
c.8200C>G (p.Arg2734Gly)
c.6097C>G (p.Arg2033Gly)
n.9047C>G
c.8683C>G (p.Arg2895Gly)
c.7879C>G (p.Arg2627Gly)
c.7684C>G (p.Arg2562Gly)
n.9096C>G
5g.37125330G=CA1539667657CPLANE1n.1871C=
c.8872C= (p.Arg2958=)
n.733C=
c.8710C= (p.Arg2904=)
c.5884C= (n.5884C=)
n.4053C=
n.342-3546C=
c.5908C= (p.Arg1970=)
c.8869C= (p.Arg2957=)
c.8761C= (p.Arg2921=)
c.8743C= (p.Arg2915=)
c.5515C= (p.Arg1839=)
c.3445C= (p.Arg1149=)
c.8818C= (p.Arg2940=)
c.8764C= (p.Arg2922=)
c.8554C= (p.Arg2852=)
c.8200C= (p.Arg2734=)
c.6097C= (p.Arg2033=)
n.9047C=
c.8683C= (p.Arg2895=)
c.7879C= (p.Arg2627=)
c.7684C= (p.Arg2562=)
n.9096C=
5g.37125330G>TCA443922028CPLANE1n.1871C>A
c.8872C>A (p.Arg2958=)
n.733C>A
c.8710C>A (p.Arg2904=)
c.5884C>A (n.5884C>A)
n.4053C>A
n.342-3546C>A
c.5908C>A (p.Arg1970=)
c.8869C>A (p.Arg2957=)
c.8761C>A (p.Arg2921=)
c.8743C>A (p.Arg2915=)
c.5515C>A (p.Arg1839=)
c.3445C>A (p.Arg1149=)
c.8818C>A (p.Arg2940=)
c.8764C>A (p.Arg2922=)
c.8554C>A (p.Arg2852=)
c.8200C>A (p.Arg2734=)
c.6097C>A (p.Arg2033=)
n.9047C>A
c.8683C>A (p.Arg2895=)
c.7879C>A (p.Arg2627=)
c.7684C>A (p.Arg2562=)
n.9096C>A
 dbSNP
5g.37125331T>ACA359499160CPLANE1n.1870A>T
c.8871A>T (p.Lys2957Asn)
n.732A>T
c.8709A>T (p.Lys2903Asn)
c.5883A>T (n.5883A>T)
n.4052A>T
n.342-3547A>T
c.5907A>T (p.Lys1969Asn)
c.8868A>T (p.Lys2956Asn)
c.8760A>T (p.Lys2920Asn)
c.8742A>T (p.Lys2914Asn)
c.5514A>T (p.Lys1838Asn)
c.3444A>T (p.Lys1148Asn)
c.8817A>T (p.Lys2939Asn)
c.8763A>T (p.Lys2921Asn)
c.8553A>T (p.Lys2851Asn)
c.8199A>T (p.Lys2733Asn)
c.6096A>T (p.Lys2032Asn)
n.9046A>T
c.8682A>T (p.Lys2894Asn)
c.7878A>T (p.Lys2626Asn)
c.7683A>T (p.Lys2561Asn)
n.9095A>T
5g.37125331T>CCA443922029CPLANE1n.1870A>G
c.8871A>G (p.Lys2957=)
n.732A>G
c.8709A>G (p.Lys2903=)
c.5883A>G (n.5883A>G)
n.4052A>G
n.342-3547A>G
c.5907A>G (p.Lys1969=)
c.8868A>G (p.Lys2956=)
c.8760A>G (p.Lys2920=)
c.8742A>G (p.Lys2914=)
c.5514A>G (p.Lys1838=)
c.3444A>G (p.Lys1148=)
c.8817A>G (p.Lys2939=)
c.8763A>G (p.Lys2921=)
c.8553A>G (p.Lys2851=)
c.8199A>G (p.Lys2733=)
c.6096A>G (p.Lys2032=)
n.9046A>G
c.8682A>G (p.Lys2894=)
c.7878A>G (p.Lys2626=)
c.7683A>G (p.Lys2561=)
n.9095A>G
5g.37125331T>GCA359499163CPLANE1n.1870A>C
c.8871A>C (p.Lys2957Asn)
n.732A>C
c.8709A>C (p.Lys2903Asn)
c.5883A>C (n.5883A>C)
n.4052A>C
n.342-3547A>C
c.5907A>C (p.Lys1969Asn)
c.8868A>C (p.Lys2956Asn)
c.8760A>C (p.Lys2920Asn)
c.8742A>C (p.Lys2914Asn)
c.5514A>C (p.Lys1838Asn)
c.3444A>C (p.Lys1148Asn)
c.8817A>C (p.Lys2939Asn)
c.8763A>C (p.Lys2921Asn)
c.8553A>C (p.Lys2851Asn)
c.8199A>C (p.Lys2733Asn)
c.6096A>C (p.Lys2032Asn)
n.9046A>C
c.8682A>C (p.Lys2894Asn)
c.7878A>C (p.Lys2626Asn)
c.7683A>C (p.Lys2561Asn)
n.9095A>C
5g.37125332T>ACA359499166CPLANE1n.1869A>T
c.8870A>T (p.Lys2957Ile)
n.731A>T
c.8708A>T (p.Lys2903Ile)
c.5882A>T (n.5882A>T)
n.4051A>T
n.342-3548A>T
c.5906A>T (p.Lys1969Ile)
c.8867A>T (p.Lys2956Ile)
c.8759A>T (p.Lys2920Ile)
c.8741A>T (p.Lys2914Ile)
c.5513A>T (p.Lys1838Ile)
c.3443A>T (p.Lys1148Ile)
c.8816A>T (p.Lys2939Ile)
c.8762A>T (p.Lys2921Ile)
c.8552A>T (p.Lys2851Ile)
c.8198A>T (p.Lys2733Ile)
c.6095A>T (p.Lys2032Ile)
n.9045A>T
c.8681A>T (p.Lys2894Ile)
c.7877A>T (p.Lys2626Ile)
c.7682A>T (p.Lys2561Ile)
n.9094A>T
5g.37125332T>CCA359499177CPLANE1n.1869A>G
c.8870A>G (p.Lys2957Arg)
n.731A>G
c.8708A>G (p.Lys2903Arg)
c.5882A>G (n.5882A>G)
n.4051A>G
n.342-3548A>G
c.5906A>G (p.Lys1969Arg)
c.8867A>G (p.Lys2956Arg)
c.8759A>G (p.Lys2920Arg)
c.8741A>G (p.Lys2914Arg)
c.5513A>G (p.Lys1838Arg)
c.3443A>G (p.Lys1148Arg)
c.8816A>G (p.Lys2939Arg)
c.8762A>G (p.Lys2921Arg)
c.8552A>G (p.Lys2851Arg)
c.8198A>G (p.Lys2733Arg)
c.6095A>G (p.Lys2032Arg)
n.9045A>G
c.8681A>G (p.Lys2894Arg)
c.7877A>G (p.Lys2626Arg)
c.7682A>G (p.Lys2561Arg)
n.9094A>G
 ClinVar dbSNP gnomAD v4
5g.37125332T>GCA359499181CPLANE1n.1869A>C
c.8870A>C (p.Lys2957Thr)
n.731A>C
c.8708A>C (p.Lys2903Thr)
c.5882A>C (n.5882A>C)
n.4051A>C
n.342-3548A>C
c.5906A>C (p.Lys1969Thr)
c.8867A>C (p.Lys2956Thr)
c.8759A>C (p.Lys2920Thr)
c.8741A>C (p.Lys2914Thr)
c.5513A>C (p.Lys1838Thr)
c.3443A>C (p.Lys1148Thr)
c.8816A>C (p.Lys2939Thr)
c.8762A>C (p.Lys2921Thr)
c.8552A>C (p.Lys2851Thr)
c.8198A>C (p.Lys2733Thr)
c.6095A>C (p.Lys2032Thr)
n.9045A>C
c.8681A>C (p.Lys2894Thr)
c.7877A>C (p.Lys2626Thr)
c.7682A>C (p.Lys2561Thr)
n.9094A>C
5g.37125333T>ACA359499187CPLANE1n.1868A>T
c.8869A>T (p.Lys2957Ter)
n.730A>T
c.8707A>T (p.Lys2903Ter)
c.5881A>T (n.5881A>T)
n.4050A>T
n.342-3549A>T
c.5905A>T (p.Lys1969Ter)
c.8866A>T (p.Lys2956Ter)
c.8758A>T (p.Lys2920Ter)
c.8740A>T (p.Lys2914Ter)
c.5512A>T (p.Lys1838Ter)
c.3442A>T (p.Lys1148Ter)
c.8815A>T (p.Lys2939Ter)
c.8761A>T (p.Lys2921Ter)
c.8551A>T (p.Lys2851Ter)
c.8197A>T (p.Lys2733Ter)
c.6094A>T (p.Lys2032Ter)
n.9044A>T
c.8680A>T (p.Lys2894Ter)
c.7876A>T (p.Lys2626Ter)
c.7681A>T (p.Lys2561Ter)
n.9093A>T
5g.37125333T>CCA359499189CPLANE1n.1868A>G
c.8869A>G (p.Lys2957Glu)
n.730A>G
c.8707A>G (p.Lys2903Glu)
c.5881A>G (n.5881A>G)
n.4050A>G
n.342-3549A>G
c.5905A>G (p.Lys1969Glu)
c.8866A>G (p.Lys2956Glu)
c.8758A>G (p.Lys2920Glu)
c.8740A>G (p.Lys2914Glu)
c.5512A>G (p.Lys1838Glu)
c.3442A>G (p.Lys1148Glu)
c.8815A>G (p.Lys2939Glu)
c.8761A>G (p.Lys2921Glu)
c.8551A>G (p.Lys2851Glu)
c.8197A>G (p.Lys2733Glu)
c.6094A>G (p.Lys2032Glu)
n.9044A>G
c.8680A>G (p.Lys2894Glu)
c.7876A>G (p.Lys2626Glu)
c.7681A>G (p.Lys2561Glu)
n.9093A>G
5g.37125333T>GCA359499194CPLANE1n.1868A>C
c.8869A>C (p.Lys2957Gln)
n.730A>C
c.8707A>C (p.Lys2903Gln)
c.5881A>C (n.5881A>C)
n.4050A>C
n.342-3549A>C
c.5905A>C (p.Lys1969Gln)
c.8866A>C (p.Lys2956Gln)
c.8758A>C (p.Lys2920Gln)
c.8740A>C (p.Lys2914Gln)
c.5512A>C (p.Lys1838Gln)
c.3442A>C (p.Lys1148Gln)
c.8815A>C (p.Lys2939Gln)
c.8761A>C (p.Lys2921Gln)
c.8551A>C (p.Lys2851Gln)
c.8197A>C (p.Lys2733Gln)
c.6094A>C (p.Lys2032Gln)
n.9044A>C
c.8680A>C (p.Lys2894Gln)
c.7876A>C (p.Lys2626Gln)
c.7681A>C (p.Lys2561Gln)
n.9093A>C
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

Number of alleles fetched