Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37122429C>ACA279532CPLANE1c.9017+1G>T (n.9017+1G>T)
n.879G>T
c.8855+1G>T (n.8855+1G>T)
c.6029+1G>T (n.6029+1G>T)
n.342-645G>T
c.6053+1G>T (n.6053+1G>T)
c.9014+1G>T (n.9014+1G>T)
c.8906+1G>T (n.8906+1G>T)
c.8888+1G>T (n.8888+1G>T)
c.5660+1G>T (n.5660+1G>T)
c.3590+1G>T (n.3590+1G>T)
c.8963+1G>T (n.8963+1G>T)
c.8909+1G>T (n.8909+1G>T)
c.8699+1G>T (n.8699+1G>T)
c.8345+1G>T (n.8345+1G>T)
c.6242+1G>T (n.6242+1G>T)
n.9192+1G>T
c.8828+1G>T (n.8828+1G>T)
c.8024+1G>T (n.8024+1G>T)
c.7829+1G>T (n.7829+1G>T)
n.9241+1G>T
 ClinVar dbSNP COSMIC
5g.37122429C=CA1539665340CPLANE1c.9017+1G= (n.9017+1G=)
n.879G=
c.8855+1G= (n.8855+1G=)
c.6029+1G= (n.6029+1G=)
n.342-645G=
c.6053+1G= (n.6053+1G=)
c.9014+1G= (n.9014+1G=)
c.8906+1G= (n.8906+1G=)
c.8888+1G= (n.8888+1G=)
c.5660+1G= (n.5660+1G=)
c.3590+1G= (n.3590+1G=)
c.8963+1G= (n.8963+1G=)
c.8909+1G= (n.8909+1G=)
c.8699+1G= (n.8699+1G=)
c.8345+1G= (n.8345+1G=)
c.6242+1G= (n.6242+1G=)
n.9192+1G=
c.8828+1G= (n.8828+1G=)
c.8024+1G= (n.8024+1G=)
c.7829+1G= (n.7829+1G=)
n.9241+1G=
5g.37122429C>GCA359496483CPLANE1c.9017+1G>C (n.9017+1G>C)
n.879G>C
c.8855+1G>C (n.8855+1G>C)
c.6029+1G>C (n.6029+1G>C)
n.342-645G>C
c.6053+1G>C (n.6053+1G>C)
c.9014+1G>C (n.9014+1G>C)
c.8906+1G>C (n.8906+1G>C)
c.8888+1G>C (n.8888+1G>C)
c.5660+1G>C (n.5660+1G>C)
c.3590+1G>C (n.3590+1G>C)
c.8963+1G>C (n.8963+1G>C)
c.8909+1G>C (n.8909+1G>C)
c.8699+1G>C (n.8699+1G>C)
c.8345+1G>C (n.8345+1G>C)
c.6242+1G>C (n.6242+1G>C)
n.9192+1G>C
c.8828+1G>C (n.8828+1G>C)
c.8024+1G>C (n.8024+1G>C)
c.7829+1G>C (n.7829+1G>C)
n.9241+1G>C
5g.37122429C>TCA279466CPLANE1c.9017+1G>A (n.9017+1G>A)
n.879G>A
c.8855+1G>A (n.8855+1G>A)
c.6029+1G>A (n.6029+1G>A)
n.342-645G>A
c.6053+1G>A (n.6053+1G>A)
c.9014+1G>A (n.9014+1G>A)
c.8906+1G>A (n.8906+1G>A)
c.8888+1G>A (n.8888+1G>A)
c.5660+1G>A (n.5660+1G>A)
c.3590+1G>A (n.3590+1G>A)
c.8963+1G>A (n.8963+1G>A)
c.8909+1G>A (n.8909+1G>A)
c.8699+1G>A (n.8699+1G>A)
c.8345+1G>A (n.8345+1G>A)
c.6242+1G>A (n.6242+1G>A)
n.9192+1G>A
c.8828+1G>A (n.8828+1G>A)
c.8024+1G>A (n.8024+1G>A)
c.7829+1G>A (n.7829+1G>A)
n.9241+1G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37122429_37122433delinsCCTGTCA1539665341CPLANE1c.9014_9017+1delinsACAGG
n.875_879delinsACAGG
c.8852_8855+1delinsACAGG
c.6026_6029+1delinsACAGG
n.342-649_342-645delinsACAGG
c.6050_6053+1delinsACAGG
c.9011_9014+1delinsACAGG
c.8903_8906+1delinsACAGG
c.8885_8888+1delinsACAGG
c.5657_5660+1delinsACAGG
c.3587_3590+1delinsACAGG
c.8960_8963+1delinsACAGG
c.8906_8909+1delinsACAGG
c.8696_8699+1delinsACAGG
c.8342_8345+1delinsACAGG
c.6239_6242+1delinsACAGG
n.9189_9192+1delinsACAGG
c.8825_8828+1delinsACAGG
c.8021_8024+1delinsACAGG
c.7826_7829+1delinsACAGG
n.9238_9241+1delinsACAGG
5g.37122430C>ACA359496492CPLANE1c.9017G>T (p.Arg3006Ile)
n.878G>T
c.8855G>T (p.Arg2952Ile)
c.6029G>T (n.6029G>T)
n.342-646G>T
c.6053G>T (p.Arg2018Ile)
c.9014G>T (p.Arg3005Ile)
c.8906G>T (p.Arg2969Ile)
c.8888G>T (p.Arg2963Ile)
c.5660G>T (p.Arg1887Ile)
c.3590G>T (p.Arg1197Ile)
c.8963G>T (p.Arg2988Ile)
c.8909G>T (p.Arg2970Ile)
c.8699G>T (p.Arg2900Ile)
c.8345G>T (p.Arg2782Ile)
c.6242G>T (p.Arg2081Ile)
n.9192G>T
c.8828G>T (p.Arg2943Ile)
c.8024G>T (p.Arg2675Ile)
c.7829G>T (p.Arg2610Ile)
n.9241G>T
5g.37122430C>GCA359496494CPLANE1c.9017G>C (p.Arg3006Thr)
n.878G>C
c.8855G>C (p.Arg2952Thr)
c.6029G>C (n.6029G>C)
n.342-646G>C
c.6053G>C (p.Arg2018Thr)
c.9014G>C (p.Arg3005Thr)
c.8906G>C (p.Arg2969Thr)
c.8888G>C (p.Arg2963Thr)
c.5660G>C (p.Arg1887Thr)
c.3590G>C (p.Arg1197Thr)
c.8963G>C (p.Arg2988Thr)
c.8909G>C (p.Arg2970Thr)
c.8699G>C (p.Arg2900Thr)
c.8345G>C (p.Arg2782Thr)
c.6242G>C (p.Arg2081Thr)
n.9192G>C
c.8828G>C (p.Arg2943Thr)
c.8024G>C (p.Arg2675Thr)
c.7829G>C (p.Arg2610Thr)
n.9241G>C
5g.37122430C>TCA359496499CPLANE1c.9017G>A (p.Arg3006Lys)
n.878G>A
c.8855G>A (p.Arg2952Lys)
c.6029G>A (n.6029G>A)
n.342-646G>A
c.6053G>A (p.Arg2018Lys)
c.9014G>A (p.Arg3005Lys)
c.8906G>A (p.Arg2969Lys)
c.8888G>A (p.Arg2963Lys)
c.5660G>A (p.Arg1887Lys)
c.3590G>A (p.Arg1197Lys)
c.8963G>A (p.Arg2988Lys)
c.8909G>A (p.Arg2970Lys)
c.8699G>A (p.Arg2900Lys)
c.8345G>A (p.Arg2782Lys)
c.6242G>A (p.Arg2081Lys)
n.9192G>A
c.8828G>A (p.Arg2943Lys)
c.8024G>A (p.Arg2675Lys)
c.7829G>A (p.Arg2610Lys)
n.9241G>A
 gnomAD v4
5g.37122432_37122435delCA559020949CPLANE1c.9014_9017del (p.Arg3006CysfsTer17)
n.875_878del
c.8852_8855del (p.Arg2952CysfsTer17)
c.6026_6029del (n.6026_6029del)
n.342-649_342-646del
c.6050_6053del (p.Arg2018CysfsTer17)
c.9011_9014del (p.Arg3005CysfsTer17)
c.8903_8906del (p.Arg2969CysfsTer17)
c.8885_8888del (p.Arg2963CysfsTer17)
c.5657_5660del (p.Arg1887CysfsTer17)
c.3587_3590del (p.Arg1197CysfsTer17)
c.8960_8963del (p.Arg2988CysfsTer17)
c.8906_8909del (p.Arg2970CysfsTer17)
c.8696_8699del (p.Arg2900CysfsTer17)
c.8342_8345del (p.Arg2782CysfsTer17)
c.9014_9017del (p.Asp3005GlufsTer3)
c.6239_6242del (p.Arg2081CysfsTer17)
n.9189_9192del
c.8825_8828del (p.Arg2943CysfsTer17)
c.8021_8024del (p.Arg2675CysfsTer17)
c.7826_7829del (p.Arg2610CysfsTer17)
n.9238_9241del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37122431T>ACA359496502CPLANE1c.9016A>T (p.Arg3006Ter)
n.877A>T
c.8854A>T (p.Arg2952Ter)
c.6028A>T (n.6028A>T)
n.342-647A>T
c.6052A>T (p.Arg2018Ter)
c.9013A>T (p.Arg3005Ter)
c.8905A>T (p.Arg2969Ter)
c.8887A>T (p.Arg2963Ter)
c.5659A>T (p.Arg1887Ter)
c.3589A>T (p.Arg1197Ter)
c.8962A>T (p.Arg2988Ter)
c.8908A>T (p.Arg2970Ter)
c.8698A>T (p.Arg2900Ter)
c.8344A>T (p.Arg2782Ter)
c.6241A>T (p.Arg2081Ter)
n.9191A>T
c.8827A>T (p.Arg2943Ter)
c.8023A>T (p.Arg2675Ter)
c.7828A>T (p.Arg2610Ter)
n.9240A>T
5g.37122431T>CCA3237599CPLANE1c.9016A>G (p.Arg3006Gly)
n.877A>G
c.8854A>G (p.Arg2952Gly)
c.6028A>G (n.6028A>G)
n.342-647A>G
c.6052A>G (p.Arg2018Gly)
c.9013A>G (p.Arg3005Gly)
c.8905A>G (p.Arg2969Gly)
c.8887A>G (p.Arg2963Gly)
c.5659A>G (p.Arg1887Gly)
c.3589A>G (p.Arg1197Gly)
c.8962A>G (p.Arg2988Gly)
c.8908A>G (p.Arg2970Gly)
c.8698A>G (p.Arg2900Gly)
c.8344A>G (p.Arg2782Gly)
c.6241A>G (p.Arg2081Gly)
n.9191A>G
c.8827A>G (p.Arg2943Gly)
c.8023A>G (p.Arg2675Gly)
c.7828A>G (p.Arg2610Gly)
n.9240A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37122431T>GCA443921889CPLANE1c.9016A>C (p.Arg3006=)
n.877A>C
c.8854A>C (p.Arg2952=)
c.6028A>C (n.6028A>C)
n.342-647A>C
c.6052A>C (p.Arg2018=)
c.9013A>C (p.Arg3005=)
c.8905A>C (p.Arg2969=)
c.8887A>C (p.Arg2963=)
c.5659A>C (p.Arg1887=)
c.3589A>C (p.Arg1197=)
c.8962A>C (p.Arg2988=)
c.8908A>C (p.Arg2970=)
c.8698A>C (p.Arg2900=)
c.8344A>C (p.Arg2782=)
c.6241A>C (p.Arg2081=)
n.9191A>C
c.8827A>C (p.Arg2943=)
c.8023A>C (p.Arg2675=)
c.7828A>C (p.Arg2610=)
n.9240A>C
5g.37122431T=CA1539665346CPLANE1c.9016A= (p.Arg3006=)
n.877A=
c.8854A= (p.Arg2952=)
c.6028A= (n.6028A=)
n.342-647A=
c.6052A= (p.Arg2018=)
c.9013A= (p.Arg3005=)
c.8905A= (p.Arg2969=)
c.8887A= (p.Arg2963=)
c.5659A= (p.Arg1887=)
c.3589A= (p.Arg1197=)
c.8962A= (p.Arg2988=)
c.8908A= (p.Arg2970=)
c.8698A= (p.Arg2900=)
c.8344A= (p.Arg2782=)
c.6241A= (p.Arg2081=)
n.9191A=
c.8827A= (p.Arg2943=)
c.8023A= (p.Arg2675=)
c.7828A= (p.Arg2610=)
n.9240A=
5g.37122432G>ACA443921890CPLANE1c.9015C>T (p.Asp3005=)
n.876C>T
c.8853C>T (p.Asp2951=)
c.6027C>T (n.6027C>T)
n.342-648C>T
c.6051C>T (p.Asp2017=)
c.9012C>T (p.Asp3004=)
c.8904C>T (p.Asp2968=)
c.8886C>T (p.Asp2962=)
c.5658C>T (p.Asp1886=)
c.3588C>T (p.Asp1196=)
c.8961C>T (p.Asp2987=)
c.8907C>T (p.Asp2969=)
c.8697C>T (p.Asp2899=)
c.8343C>T (p.Asp2781=)
c.6240C>T (p.Asp2080=)
n.9190C>T
c.8826C>T (p.Asp2942=)
c.8022C>T (p.Asp2674=)
c.7827C>T (p.Asp2609=)
n.9239C>T
 gnomAD v4
5g.37122432G>CCA359496507CPLANE1c.9015C>G (p.Asp3005Glu)
n.876C>G
c.8853C>G (p.Asp2951Glu)
c.6027C>G (n.6027C>G)
n.342-648C>G
c.6051C>G (p.Asp2017Glu)
c.9012C>G (p.Asp3004Glu)
c.8904C>G (p.Asp2968Glu)
c.8886C>G (p.Asp2962Glu)
c.5658C>G (p.Asp1886Glu)
c.3588C>G (p.Asp1196Glu)
c.8961C>G (p.Asp2987Glu)
c.8907C>G (p.Asp2969Glu)
c.8697C>G (p.Asp2899Glu)
c.8343C>G (p.Asp2781Glu)
c.6240C>G (p.Asp2080Glu)
n.9190C>G
c.8826C>G (p.Asp2942Glu)
c.8022C>G (p.Asp2674Glu)
c.7827C>G (p.Asp2609Glu)
n.9239C>G
5g.37122432G>TCA359496511CPLANE1c.9015C>A (p.Asp3005Glu)
n.876C>A
c.8853C>A (p.Asp2951Glu)
c.6027C>A (n.6027C>A)
n.342-648C>A
c.6051C>A (p.Asp2017Glu)
c.9012C>A (p.Asp3004Glu)
c.8904C>A (p.Asp2968Glu)
c.8886C>A (p.Asp2962Glu)
c.5658C>A (p.Asp1886Glu)
c.3588C>A (p.Asp1196Glu)
c.8961C>A (p.Asp2987Glu)
c.8907C>A (p.Asp2969Glu)
c.8697C>A (p.Asp2899Glu)
c.8343C>A (p.Asp2781Glu)
c.6240C>A (p.Asp2080Glu)
n.9190C>A
c.8826C>A (p.Asp2942Glu)
c.8022C>A (p.Asp2674Glu)
c.7827C>A (p.Asp2609Glu)
n.9239C>A
5g.37122433T>ACA359496534CPLANE1c.9014A>T (p.Asp3005Val)
n.875A>T
c.8852A>T (p.Asp2951Val)
c.6026A>T (n.6026A>T)
n.342-649A>T
c.6050A>T (p.Asp2017Val)
c.9011A>T (p.Asp3004Val)
c.8903A>T (p.Asp2968Val)
c.8885A>T (p.Asp2962Val)
c.5657A>T (p.Asp1886Val)
c.3587A>T (p.Asp1196Val)
c.8960A>T (p.Asp2987Val)
c.8906A>T (p.Asp2969Val)
c.8696A>T (p.Asp2899Val)
c.8342A>T (p.Asp2781Val)
c.6239A>T (p.Asp2080Val)
n.9189A>T
c.8825A>T (p.Asp2942Val)
c.8021A>T (p.Asp2674Val)
c.7826A>T (p.Asp2609Val)
n.9238A>T
5g.37122433T>CCA117057248CPLANE1c.9014A>G (p.Asp3005Gly)
n.875A>G
c.8852A>G (p.Asp2951Gly)
c.6026A>G (n.6026A>G)
n.342-649A>G
c.6050A>G (p.Asp2017Gly)
c.9011A>G (p.Asp3004Gly)
c.8903A>G (p.Asp2968Gly)
c.8885A>G (p.Asp2962Gly)
c.5657A>G (p.Asp1886Gly)
c.3587A>G (p.Asp1196Gly)
c.8960A>G (p.Asp2987Gly)
c.8906A>G (p.Asp2969Gly)
c.8696A>G (p.Asp2899Gly)
c.8342A>G (p.Asp2781Gly)
c.6239A>G (p.Asp2080Gly)
n.9189A>G
c.8825A>G (p.Asp2942Gly)
c.8021A>G (p.Asp2674Gly)
c.7826A>G (p.Asp2609Gly)
n.9238A>G
 dbSNP
5g.37122433T>GCA359496527CPLANE1c.9014A>C (p.Asp3005Ala)
n.875A>C
c.8852A>C (p.Asp2951Ala)
c.6026A>C (n.6026A>C)
n.342-649A>C
c.6050A>C (p.Asp2017Ala)
c.9011A>C (p.Asp3004Ala)
c.8903A>C (p.Asp2968Ala)
c.8885A>C (p.Asp2962Ala)
c.5657A>C (p.Asp1886Ala)
c.3587A>C (p.Asp1196Ala)
c.8960A>C (p.Asp2987Ala)
c.8906A>C (p.Asp2969Ala)
c.8696A>C (p.Asp2899Ala)
c.8342A>C (p.Asp2781Ala)
c.6239A>C (p.Asp2080Ala)
n.9189A>C
c.8825A>C (p.Asp2942Ala)
c.8021A>C (p.Asp2674Ala)
c.7826A>C (p.Asp2609Ala)
n.9238A>C
5g.37122433T=CA1539665349CPLANE1c.9014A= (p.Asp3005=)
n.875A=
c.8852A= (p.Asp2951=)
c.6026A= (n.6026A=)
n.342-649A=
c.6050A= (p.Asp2017=)
c.9011A= (p.Asp3004=)
c.8903A= (p.Asp2968=)
c.8885A= (p.Asp2962=)
c.5657A= (p.Asp1886=)
c.3587A= (p.Asp1196=)
c.8960A= (p.Asp2987=)
c.8906A= (p.Asp2969=)
c.8696A= (p.Asp2899=)
c.8342A= (p.Asp2781=)
c.6239A= (p.Asp2080=)
n.9189A=
c.8825A= (p.Asp2942=)
c.8021A= (p.Asp2674=)
c.7826A= (p.Asp2609=)
n.9238A=
5g.37122434C>ACA359496536CPLANE1c.9013G>T (p.Asp3005Tyr)
n.874G>T
c.8851G>T (p.Asp2951Tyr)
c.6025G>T (n.6025G>T)
n.342-650G>T
c.6049G>T (p.Asp2017Tyr)
c.9010G>T (p.Asp3004Tyr)
c.8902G>T (p.Asp2968Tyr)
c.8884G>T (p.Asp2962Tyr)
c.5656G>T (p.Asp1886Tyr)
c.3586G>T (p.Asp1196Tyr)
c.8959G>T (p.Asp2987Tyr)
c.8905G>T (p.Asp2969Tyr)
c.8695G>T (p.Asp2899Tyr)
c.8341G>T (p.Asp2781Tyr)
c.6238G>T (p.Asp2080Tyr)
n.9188G>T
c.8824G>T (p.Asp2942Tyr)
c.8020G>T (p.Asp2674Tyr)
c.7825G>T (p.Asp2609Tyr)
n.9237G>T
5g.37122434C>GCA359496537CPLANE1c.9013G>C (p.Asp3005His)
n.874G>C
c.8851G>C (p.Asp2951His)
c.6025G>C (n.6025G>C)
n.342-650G>C
c.6049G>C (p.Asp2017His)
c.9010G>C (p.Asp3004His)
c.8902G>C (p.Asp2968His)
c.8884G>C (p.Asp2962His)
c.5656G>C (p.Asp1886His)
c.3586G>C (p.Asp1196His)
c.8959G>C (p.Asp2987His)
c.8905G>C (p.Asp2969His)
c.8695G>C (p.Asp2899His)
c.8341G>C (p.Asp2781His)
c.6238G>C (p.Asp2080His)
n.9188G>C
c.8824G>C (p.Asp2942His)
c.8020G>C (p.Asp2674His)
c.7825G>C (p.Asp2609His)
n.9237G>C
5g.37122434C>TCA359496539CPLANE1c.9013G>A (p.Asp3005Asn)
n.874G>A
c.8851G>A (p.Asp2951Asn)
c.6025G>A (n.6025G>A)
n.342-650G>A
c.6049G>A (p.Asp2017Asn)
c.9010G>A (p.Asp3004Asn)
c.8902G>A (p.Asp2968Asn)
c.8884G>A (p.Asp2962Asn)
c.5656G>A (p.Asp1886Asn)
c.3586G>A (p.Asp1196Asn)
c.8959G>A (p.Asp2987Asn)
c.8905G>A (p.Asp2969Asn)
c.8695G>A (p.Asp2899Asn)
c.8341G>A (p.Asp2781Asn)
c.6238G>A (p.Asp2080Asn)
n.9188G>A
c.8824G>A (p.Asp2942Asn)
c.8020G>A (p.Asp2674Asn)
c.7825G>A (p.Asp2609Asn)
n.9237G>A
5g.37122435T>ACA359496541CPLANE1c.9012A>T (p.Lys3004Asn)
n.873A>T
c.8850A>T (p.Lys2950Asn)
c.6024A>T (n.6024A>T)
n.342-651A>T
c.6048A>T (p.Lys2016Asn)
c.9009A>T (p.Lys3003Asn)
c.8901A>T (p.Lys2967Asn)
c.8883A>T (p.Lys2961Asn)
c.5655A>T (p.Lys1885Asn)
c.3585A>T (p.Lys1195Asn)
c.8958A>T (p.Lys2986Asn)
c.8904A>T (p.Lys2968Asn)
c.8694A>T (p.Lys2898Asn)
c.8340A>T (p.Lys2780Asn)
c.6237A>T (p.Lys2079Asn)
n.9187A>T
c.8823A>T (p.Lys2941Asn)
c.8019A>T (p.Lys2673Asn)
c.7824A>T (p.Lys2608Asn)
n.9236A>T
5g.37122435T>CCA443921891CPLANE1c.9012A>G (p.Lys3004=)
n.873A>G
c.8850A>G (p.Lys2950=)
c.6024A>G (n.6024A>G)
n.342-651A>G
c.6048A>G (p.Lys2016=)
c.9009A>G (p.Lys3003=)
c.8901A>G (p.Lys2967=)
c.8883A>G (p.Lys2961=)
c.5655A>G (p.Lys1885=)
c.3585A>G (p.Lys1195=)
c.8958A>G (p.Lys2986=)
c.8904A>G (p.Lys2968=)
c.8694A>G (p.Lys2898=)
c.8340A>G (p.Lys2780=)
c.6237A>G (p.Lys2079=)
n.9187A>G
c.8823A>G (p.Lys2941=)
c.8019A>G (p.Lys2673=)
c.7824A>G (p.Lys2608=)
n.9236A>G
5g.37122435T>GCA359496545CPLANE1c.9012A>C (p.Lys3004Asn)
n.873A>C
c.8850A>C (p.Lys2950Asn)
c.6024A>C (n.6024A>C)
n.342-651A>C
c.6048A>C (p.Lys2016Asn)
c.9009A>C (p.Lys3003Asn)
c.8901A>C (p.Lys2967Asn)
c.8883A>C (p.Lys2961Asn)
c.5655A>C (p.Lys1885Asn)
c.3585A>C (p.Lys1195Asn)
c.8958A>C (p.Lys2986Asn)
c.8904A>C (p.Lys2968Asn)
c.8694A>C (p.Lys2898Asn)
c.8340A>C (p.Lys2780Asn)
c.6237A>C (p.Lys2079Asn)
n.9187A>C
c.8823A>C (p.Lys2941Asn)
c.8019A>C (p.Lys2673Asn)
c.7824A>C (p.Lys2608Asn)
n.9236A>C
5g.37122438_37122439delCA2673579774CPLANE1c.9011_9012del (p.Lys3004ArgfsTer7)
n.872_873del
c.8849_8850del (p.Lys2950ArgfsTer7)
c.6023_6024del (n.6023_6024del)
n.342-652_342-651del
c.6047_6048del (p.Lys2016ArgfsTer7)
c.9008_9009del (p.Lys3003ArgfsTer7)
c.8900_8901del (p.Lys2967ArgfsTer7)
c.8882_8883del (p.Lys2961ArgfsTer7)
c.5654_5655del (p.Lys1885ArgfsTer7)
c.3584_3585del (p.Lys1195ArgfsTer7)
c.8957_8958del (p.Lys2986ArgfsTer7)
c.8903_8904del (p.Lys2968ArgfsTer7)
c.8693_8694del (p.Lys2898ArgfsTer7)
c.8339_8340del (p.Lys2780ArgfsTer7)
c.6236_6237del (p.Lys2079ArgfsTer7)
n.9186_9187del
c.8822_8823del (p.Lys2941ArgfsTer7)
c.8018_8019del (p.Lys2673ArgfsTer7)
c.7823_7824del (p.Lys2608ArgfsTer7)
n.9235_9236del
 gnomAD v4
5g.37122436T>ACA359496549CPLANE1c.9011A>T (p.Lys3004Ile)
n.872A>T
c.8849A>T (p.Lys2950Ile)
c.6023A>T (n.6023A>T)
n.342-652A>T
c.6047A>T (p.Lys2016Ile)
c.9008A>T (p.Lys3003Ile)
c.8900A>T (p.Lys2967Ile)
c.8882A>T (p.Lys2961Ile)
c.5654A>T (p.Lys1885Ile)
c.3584A>T (p.Lys1195Ile)
c.8957A>T (p.Lys2986Ile)
c.8903A>T (p.Lys2968Ile)
c.8693A>T (p.Lys2898Ile)
c.8339A>T (p.Lys2780Ile)
c.6236A>T (p.Lys2079Ile)
n.9186A>T
c.8822A>T (p.Lys2941Ile)
c.8018A>T (p.Lys2673Ile)
c.7823A>T (p.Lys2608Ile)
n.9235A>T
5g.37122436T>CCA359496552CPLANE1c.9011A>G (p.Lys3004Arg)
n.872A>G
c.8849A>G (p.Lys2950Arg)
c.6023A>G (n.6023A>G)
n.342-652A>G
c.6047A>G (p.Lys2016Arg)
c.9008A>G (p.Lys3003Arg)
c.8900A>G (p.Lys2967Arg)
c.8882A>G (p.Lys2961Arg)
c.5654A>G (p.Lys1885Arg)
c.3584A>G (p.Lys1195Arg)
c.8957A>G (p.Lys2986Arg)
c.8903A>G (p.Lys2968Arg)
c.8693A>G (p.Lys2898Arg)
c.8339A>G (p.Lys2780Arg)
c.6236A>G (p.Lys2079Arg)
n.9186A>G
c.8822A>G (p.Lys2941Arg)
c.8018A>G (p.Lys2673Arg)
c.7823A>G (p.Lys2608Arg)
n.9235A>G
5g.37122436T>GCA359496558CPLANE1c.9011A>C (p.Lys3004Thr)
n.872A>C
c.8849A>C (p.Lys2950Thr)
c.6023A>C (n.6023A>C)
n.342-652A>C
c.6047A>C (p.Lys2016Thr)
c.9008A>C (p.Lys3003Thr)
c.8900A>C (p.Lys2967Thr)
c.8882A>C (p.Lys2961Thr)
c.5654A>C (p.Lys1885Thr)
c.3584A>C (p.Lys1195Thr)
c.8957A>C (p.Lys2986Thr)
c.8903A>C (p.Lys2968Thr)
c.8693A>C (p.Lys2898Thr)
c.8339A>C (p.Lys2780Thr)
c.6236A>C (p.Lys2079Thr)
n.9186A>C
c.8822A>C (p.Lys2941Thr)
c.8018A>C (p.Lys2673Thr)
c.7823A>C (p.Lys2608Thr)
n.9235A>C
5g.37122437T>ACA359496563CPLANE1c.9010A>T (p.Lys3004Ter)
n.871A>T
c.8848A>T (p.Lys2950Ter)
c.6022A>T (n.6022A>T)
n.342-653A>T
c.6046A>T (p.Lys2016Ter)
c.9007A>T (p.Lys3003Ter)
c.8899A>T (p.Lys2967Ter)
c.8881A>T (p.Lys2961Ter)
c.5653A>T (p.Lys1885Ter)
c.3583A>T (p.Lys1195Ter)
c.8956A>T (p.Lys2986Ter)
c.8902A>T (p.Lys2968Ter)
c.8692A>T (p.Lys2898Ter)
c.8338A>T (p.Lys2780Ter)
c.6235A>T (p.Lys2079Ter)
n.9185A>T
c.8821A>T (p.Lys2941Ter)
c.8017A>T (p.Lys2673Ter)
c.7822A>T (p.Lys2608Ter)
n.9234A>T
5g.37122437T>CCA359496564CPLANE1c.9010A>G (p.Lys3004Glu)
n.871A>G
c.8848A>G (p.Lys2950Glu)
c.6022A>G (n.6022A>G)
n.342-653A>G
c.6046A>G (p.Lys2016Glu)
c.9007A>G (p.Lys3003Glu)
c.8899A>G (p.Lys2967Glu)
c.8881A>G (p.Lys2961Glu)
c.5653A>G (p.Lys1885Glu)
c.3583A>G (p.Lys1195Glu)
c.8956A>G (p.Lys2986Glu)
c.8902A>G (p.Lys2968Glu)
c.8692A>G (p.Lys2898Glu)
c.8338A>G (p.Lys2780Glu)
c.6235A>G (p.Lys2079Glu)
n.9185A>G
c.8821A>G (p.Lys2941Glu)
c.8017A>G (p.Lys2673Glu)
c.7822A>G (p.Lys2608Glu)
n.9234A>G
 dbSNP
5g.37122437T>GCA359496565CPLANE1c.9010A>C (p.Lys3004Gln)
n.871A>C
c.8848A>C (p.Lys2950Gln)
c.6022A>C (n.6022A>C)
n.342-653A>C
c.6046A>C (p.Lys2016Gln)
c.9007A>C (p.Lys3003Gln)
c.8899A>C (p.Lys2967Gln)
c.8881A>C (p.Lys2961Gln)
c.5653A>C (p.Lys1885Gln)
c.3583A>C (p.Lys1195Gln)
c.8956A>C (p.Lys2986Gln)
c.8902A>C (p.Lys2968Gln)
c.8692A>C (p.Lys2898Gln)
c.8338A>C (p.Lys2780Gln)
c.6235A>C (p.Lys2079Gln)
n.9185A>C
c.8821A>C (p.Lys2941Gln)
c.8017A>C (p.Lys2673Gln)
c.7822A>C (p.Lys2608Gln)
n.9234A>C
5g.37122437T=CA1539665351CPLANE1c.9010A= (p.Lys3004=)
n.871A=
c.8848A= (p.Lys2950=)
c.6022A= (n.6022A=)
n.342-653A=
c.6046A= (p.Lys2016=)
c.9007A= (p.Lys3003=)
c.8899A= (p.Lys2967=)
c.8881A= (p.Lys2961=)
c.5653A= (p.Lys1885=)
c.3583A= (p.Lys1195=)
c.8956A= (p.Lys2986=)
c.8902A= (p.Lys2968=)
c.8692A= (p.Lys2898=)
c.8338A= (p.Lys2780=)
c.6235A= (p.Lys2079=)
n.9185A=
c.8821A= (p.Lys2941=)
c.8017A= (p.Lys2673=)
c.7822A= (p.Lys2608=)
n.9234A=
5g.37122438T>ACA359496566CPLANE1c.9009A>T (p.Glu3003Asp)
n.870A>T
c.8847A>T (p.Glu2949Asp)
c.6021A>T (n.6021A>T)
n.342-654A>T
c.6045A>T (p.Glu2015Asp)
c.9006A>T (p.Glu3002Asp)
c.8898A>T (p.Glu2966Asp)
c.8880A>T (p.Glu2960Asp)
c.5652A>T (p.Glu1884Asp)
c.3582A>T (p.Glu1194Asp)
c.8955A>T (p.Glu2985Asp)
c.8901A>T (p.Glu2967Asp)
c.8691A>T (p.Glu2897Asp)
c.8337A>T (p.Glu2779Asp)
c.6234A>T (p.Glu2078Asp)
n.9184A>T
c.8820A>T (p.Glu2940Asp)
c.8016A>T (p.Glu2672Asp)
c.7821A>T (p.Glu2607Asp)
n.9233A>T
5g.37122438T>CCA443921892CPLANE1c.9009A>G (p.Glu3003=)
n.870A>G
c.8847A>G (p.Glu2949=)
c.6021A>G (n.6021A>G)
n.342-654A>G
c.6045A>G (p.Glu2015=)
c.9006A>G (p.Glu3002=)
c.8898A>G (p.Glu2966=)
c.8880A>G (p.Glu2960=)
c.5652A>G (p.Glu1884=)
c.3582A>G (p.Glu1194=)
c.8955A>G (p.Glu2985=)
c.8901A>G (p.Glu2967=)
c.8691A>G (p.Glu2897=)
c.8337A>G (p.Glu2779=)
c.6234A>G (p.Glu2078=)
n.9184A>G
c.8820A>G (p.Glu2940=)
c.8016A>G (p.Glu2672=)
c.7821A>G (p.Glu2607=)
n.9233A>G
5g.37122438T>GCA359496567CPLANE1c.9009A>C (p.Glu3003Asp)
n.870A>C
c.8847A>C (p.Glu2949Asp)
c.6021A>C (n.6021A>C)
n.342-654A>C
c.6045A>C (p.Glu2015Asp)
c.9006A>C (p.Glu3002Asp)
c.8898A>C (p.Glu2966Asp)
c.8880A>C (p.Glu2960Asp)
c.5652A>C (p.Glu1884Asp)
c.3582A>C (p.Glu1194Asp)
c.8955A>C (p.Glu2985Asp)
c.8901A>C (p.Glu2967Asp)
c.8691A>C (p.Glu2897Asp)
c.8337A>C (p.Glu2779Asp)
c.6234A>C (p.Glu2078Asp)
n.9184A>C
c.8820A>C (p.Glu2940Asp)
c.8016A>C (p.Glu2672Asp)
c.7821A>C (p.Glu2607Asp)
n.9233A>C
5g.37122439T>ACA359496574CPLANE1c.9008A>T (p.Glu3003Val)
n.869A>T
c.8846A>T (p.Glu2949Val)
c.6020A>T (n.6020A>T)
n.342-655A>T
c.6044A>T (p.Glu2015Val)
c.9005A>T (p.Glu3002Val)
c.8897A>T (p.Glu2966Val)
c.8879A>T (p.Glu2960Val)
c.5651A>T (p.Glu1884Val)
c.3581A>T (p.Glu1194Val)
c.8954A>T (p.Glu2985Val)
c.8900A>T (p.Glu2967Val)
c.8690A>T (p.Glu2897Val)
c.8336A>T (p.Glu2779Val)
c.6233A>T (p.Glu2078Val)
n.9183A>T
c.8819A>T (p.Glu2940Val)
c.8015A>T (p.Glu2672Val)
c.7820A>T (p.Glu2607Val)
n.9232A>T
5g.37122439T>CCA359496578CPLANE1c.9008A>G (p.Glu3003Gly)
n.869A>G
c.8846A>G (p.Glu2949Gly)
c.6020A>G (n.6020A>G)
n.342-655A>G
c.6044A>G (p.Glu2015Gly)
c.9005A>G (p.Glu3002Gly)
c.8897A>G (p.Glu2966Gly)
c.8879A>G (p.Glu2960Gly)
c.5651A>G (p.Glu1884Gly)
c.3581A>G (p.Glu1194Gly)
c.8954A>G (p.Glu2985Gly)
c.8900A>G (p.Glu2967Gly)
c.8690A>G (p.Glu2897Gly)
c.8336A>G (p.Glu2779Gly)
c.6233A>G (p.Glu2078Gly)
n.9183A>G
c.8819A>G (p.Glu2940Gly)
c.8015A>G (p.Glu2672Gly)
c.7820A>G (p.Glu2607Gly)
n.9232A>G
5g.37122439T>GCA359496571CPLANE1c.9008A>C (p.Glu3003Ala)
n.869A>C
c.8846A>C (p.Glu2949Ala)
c.6020A>C (n.6020A>C)
n.342-655A>C
c.6044A>C (p.Glu2015Ala)
c.9005A>C (p.Glu3002Ala)
c.8897A>C (p.Glu2966Ala)
c.8879A>C (p.Glu2960Ala)
c.5651A>C (p.Glu1884Ala)
c.3581A>C (p.Glu1194Ala)
c.8954A>C (p.Glu2985Ala)
c.8900A>C (p.Glu2967Ala)
c.8690A>C (p.Glu2897Ala)
c.8336A>C (p.Glu2779Ala)
c.6233A>C (p.Glu2078Ala)
n.9183A>C
c.8819A>C (p.Glu2940Ala)
c.8015A>C (p.Glu2672Ala)
c.7820A>C (p.Glu2607Ala)
n.9232A>C
5g.37122440C>ACA359496597CPLANE1c.9007G>T (p.Glu3003Ter)
n.868G>T
c.8845G>T (p.Glu2949Ter)
c.6019G>T (n.6019G>T)
n.342-656G>T
c.6043G>T (p.Glu2015Ter)
c.9004G>T (p.Glu3002Ter)
c.8896G>T (p.Glu2966Ter)
c.8878G>T (p.Glu2960Ter)
c.5650G>T (p.Glu1884Ter)
c.3580G>T (p.Glu1194Ter)
c.8953G>T (p.Glu2985Ter)
c.8899G>T (p.Glu2967Ter)
c.8689G>T (p.Glu2897Ter)
c.8335G>T (p.Glu2779Ter)
c.6232G>T (p.Glu2078Ter)
n.9182G>T
c.8818G>T (p.Glu2940Ter)
c.8014G>T (p.Glu2672Ter)
c.7819G>T (p.Glu2607Ter)
n.9231G>T
 COSMIC COSMIC
5g.37122440C=CA1539665353CPLANE1c.9007G= (p.Glu3003=)
n.868G=
c.8845G= (p.Glu2949=)
c.6019G= (n.6019G=)
n.342-656G=
c.6043G= (p.Glu2015=)
c.9004G= (p.Glu3002=)
c.8896G= (p.Glu2966=)
c.8878G= (p.Glu2960=)
c.5650G= (p.Glu1884=)
c.3580G= (p.Glu1194=)
c.8953G= (p.Glu2985=)
c.8899G= (p.Glu2967=)
c.8689G= (p.Glu2897=)
c.8335G= (p.Glu2779=)
c.6232G= (p.Glu2078=)
n.9182G=
c.8818G= (p.Glu2940=)
c.8014G= (p.Glu2672=)
c.7819G= (p.Glu2607=)
n.9231G=
5g.37122440C>GCA359496601CPLANE1c.9007G>C (p.Glu3003Gln)
n.868G>C
c.8845G>C (p.Glu2949Gln)
c.6019G>C (n.6019G>C)
n.342-656G>C
c.6043G>C (p.Glu2015Gln)
c.9004G>C (p.Glu3002Gln)
c.8896G>C (p.Glu2966Gln)
c.8878G>C (p.Glu2960Gln)
c.5650G>C (p.Glu1884Gln)
c.3580G>C (p.Glu1194Gln)
c.8953G>C (p.Glu2985Gln)
c.8899G>C (p.Glu2967Gln)
c.8689G>C (p.Glu2897Gln)
c.8335G>C (p.Glu2779Gln)
c.6232G>C (p.Glu2078Gln)
n.9182G>C
c.8818G>C (p.Glu2940Gln)
c.8014G>C (p.Glu2672Gln)
c.7819G>C (p.Glu2607Gln)
n.9231G>C
5g.37122440C>TCA3237600CPLANE1c.9007G>A (p.Glu3003Lys)
n.868G>A
c.8845G>A (p.Glu2949Lys)
c.6019G>A (n.6019G>A)
n.342-656G>A
c.6043G>A (p.Glu2015Lys)
c.9004G>A (p.Glu3002Lys)
c.8896G>A (p.Glu2966Lys)
c.8878G>A (p.Glu2960Lys)
c.5650G>A (p.Glu1884Lys)
c.3580G>A (p.Glu1194Lys)
c.8953G>A (p.Glu2985Lys)
c.8899G>A (p.Glu2967Lys)
c.8689G>A (p.Glu2897Lys)
c.8335G>A (p.Glu2779Lys)
c.6232G>A (p.Glu2078Lys)
n.9182G>A
c.8818G>A (p.Glu2940Lys)
c.8014G>A (p.Glu2672Lys)
c.7819G>A (p.Glu2607Lys)
n.9231G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37122441A=CA1539665354CPLANE1c.9006T= (p.His3002=)
n.867T=
c.8844T= (p.His2948=)
c.6018T= (n.6018T=)
n.342-657T=
c.6042T= (p.His2014=)
c.9003T= (p.His3001=)
c.8895T= (p.His2965=)
c.8877T= (p.His2959=)
c.5649T= (p.His1883=)
c.3579T= (p.His1193=)
c.8952T= (p.His2984=)
c.8898T= (p.His2966=)
c.8688T= (p.His2896=)
c.8334T= (p.His2778=)
c.6231T= (p.His2077=)
n.9181T=
c.8817T= (p.His2939=)
c.8013T= (p.His2671=)
c.7818T= (p.His2606=)
n.9230T=
5g.37122441A>CCA359496610CPLANE1c.9006T>G (p.His3002Gln)
n.867T>G
c.8844T>G (p.His2948Gln)
c.6018T>G (n.6018T>G)
n.342-657T>G
c.6042T>G (p.His2014Gln)
c.9003T>G (p.His3001Gln)
c.8895T>G (p.His2965Gln)
c.8877T>G (p.His2959Gln)
c.5649T>G (p.His1883Gln)
c.3579T>G (p.His1193Gln)
c.8952T>G (p.His2984Gln)
c.8898T>G (p.His2966Gln)
c.8688T>G (p.His2896Gln)
c.8334T>G (p.His2778Gln)
c.6231T>G (p.His2077Gln)
n.9181T>G
c.8817T>G (p.His2939Gln)
c.8013T>G (p.His2671Gln)
c.7818T>G (p.His2606Gln)
n.9230T>G
5g.37122441A>GCA443921893CPLANE1c.9006T>C (p.His3002=)
n.867T>C
c.8844T>C (p.His2948=)
c.6018T>C (n.6018T>C)
n.342-657T>C
c.6042T>C (p.His2014=)
c.9003T>C (p.His3001=)
c.8895T>C (p.His2965=)
c.8877T>C (p.His2959=)
c.5649T>C (p.His1883=)
c.3579T>C (p.His1193=)
c.8952T>C (p.His2984=)
c.8898T>C (p.His2966=)
c.8688T>C (p.His2896=)
c.8334T>C (p.His2778=)
c.6231T>C (p.His2077=)
n.9181T>C
c.8817T>C (p.His2939=)
c.8013T>C (p.His2671=)
c.7818T>C (p.His2606=)
n.9230T>C
 dbSNP gnomAD v4
5g.37122441A>TCA359496614CPLANE1c.9006T>A (p.His3002Gln)
n.867T>A
c.8844T>A (p.His2948Gln)
c.6018T>A (n.6018T>A)
n.342-657T>A
c.6042T>A (p.His2014Gln)
c.9003T>A (p.His3001Gln)
c.8895T>A (p.His2965Gln)
c.8877T>A (p.His2959Gln)
c.5649T>A (p.His1883Gln)
c.3579T>A (p.His1193Gln)
c.8952T>A (p.His2984Gln)
c.8898T>A (p.His2966Gln)
c.8688T>A (p.His2896Gln)
c.8334T>A (p.His2778Gln)
c.6231T>A (p.His2077Gln)
n.9181T>A
c.8817T>A (p.His2939Gln)
c.8013T>A (p.His2671Gln)
c.7818T>A (p.His2606Gln)
n.9230T>A
5g.37122442T>ACA359496618CPLANE1c.9005A>T (p.His3002Leu)
n.866A>T
c.8843A>T (p.His2948Leu)
c.6017A>T (n.6017A>T)
n.342-658A>T
c.6041A>T (p.His2014Leu)
c.9002A>T (p.His3001Leu)
c.8894A>T (p.His2965Leu)
c.8876A>T (p.His2959Leu)
c.5648A>T (p.His1883Leu)
c.3578A>T (p.His1193Leu)
c.8951A>T (p.His2984Leu)
c.8897A>T (p.His2966Leu)
c.8687A>T (p.His2896Leu)
c.8333A>T (p.His2778Leu)
c.6230A>T (p.His2077Leu)
n.9180A>T
c.8816A>T (p.His2939Leu)
c.8012A>T (p.His2671Leu)
c.7817A>T (p.His2606Leu)
n.9229A>T
5g.37122442T>CCA359496620CPLANE1c.9005A>G (p.His3002Arg)
n.866A>G
c.8843A>G (p.His2948Arg)
c.6017A>G (n.6017A>G)
n.342-658A>G
c.6041A>G (p.His2014Arg)
c.9002A>G (p.His3001Arg)
c.8894A>G (p.His2965Arg)
c.8876A>G (p.His2959Arg)
c.5648A>G (p.His1883Arg)
c.3578A>G (p.His1193Arg)
c.8951A>G (p.His2984Arg)
c.8897A>G (p.His2966Arg)
c.8687A>G (p.His2896Arg)
c.8333A>G (p.His2778Arg)
c.6230A>G (p.His2077Arg)
n.9180A>G
c.8816A>G (p.His2939Arg)
c.8012A>G (p.His2671Arg)
c.7817A>G (p.His2606Arg)
n.9229A>G
5g.37122442T>GCA359496622CPLANE1c.9005A>C (p.His3002Pro)
n.866A>C
c.8843A>C (p.His2948Pro)
c.6017A>C (n.6017A>C)
n.342-658A>C
c.6041A>C (p.His2014Pro)
c.9002A>C (p.His3001Pro)
c.8894A>C (p.His2965Pro)
c.8876A>C (p.His2959Pro)
c.5648A>C (p.His1883Pro)
c.3578A>C (p.His1193Pro)
c.8951A>C (p.His2984Pro)
c.8897A>C (p.His2966Pro)
c.8687A>C (p.His2896Pro)
c.8333A>C (p.His2778Pro)
c.6230A>C (p.His2077Pro)
n.9180A>C
c.8816A>C (p.His2939Pro)
c.8012A>C (p.His2671Pro)
c.7817A>C (p.His2606Pro)
n.9229A>C
5g.37122443G>ACA359496640CPLANE1c.9004C>T (p.His3002Tyr)
n.865C>T
c.8842C>T (p.His2948Tyr)
c.6016C>T (n.6016C>T)
n.342-659C>T
c.6040C>T (p.His2014Tyr)
c.9001C>T (p.His3001Tyr)
c.8893C>T (p.His2965Tyr)
c.8875C>T (p.His2959Tyr)
c.5647C>T (p.His1883Tyr)
c.3577C>T (p.His1193Tyr)
c.8950C>T (p.His2984Tyr)
c.8896C>T (p.His2966Tyr)
c.8686C>T (p.His2896Tyr)
c.8332C>T (p.His2778Tyr)
c.6229C>T (p.His2077Tyr)
n.9179C>T
c.8815C>T (p.His2939Tyr)
c.8011C>T (p.His2671Tyr)
c.7816C>T (p.His2606Tyr)
n.9228C>T
5g.37122443G>CCA359496647CPLANE1c.9004C>G (p.His3002Asp)
n.865C>G
c.8842C>G (p.His2948Asp)
c.6016C>G (n.6016C>G)
n.342-659C>G
c.6040C>G (p.His2014Asp)
c.9001C>G (p.His3001Asp)
c.8893C>G (p.His2965Asp)
c.8875C>G (p.His2959Asp)
c.5647C>G (p.His1883Asp)
c.3577C>G (p.His1193Asp)
c.8950C>G (p.His2984Asp)
c.8896C>G (p.His2966Asp)
c.8686C>G (p.His2896Asp)
c.8332C>G (p.His2778Asp)
c.6229C>G (p.His2077Asp)
n.9179C>G
c.8815C>G (p.His2939Asp)
c.8011C>G (p.His2671Asp)
c.7816C>G (p.His2606Asp)
n.9228C>G
5g.37122443G>TCA359496650CPLANE1c.9004C>A (p.His3002Asn)
n.865C>A
c.8842C>A (p.His2948Asn)
c.6016C>A (n.6016C>A)
n.342-659C>A
c.6040C>A (p.His2014Asn)
c.9001C>A (p.His3001Asn)
c.8893C>A (p.His2965Asn)
c.8875C>A (p.His2959Asn)
c.5647C>A (p.His1883Asn)
c.3577C>A (p.His1193Asn)
c.8950C>A (p.His2984Asn)
c.8896C>A (p.His2966Asn)
c.8686C>A (p.His2896Asn)
c.8332C>A (p.His2778Asn)
c.6229C>A (p.His2077Asn)
n.9179C>A
c.8815C>A (p.His2939Asn)
c.8011C>A (p.His2671Asn)
c.7816C>A (p.His2606Asn)
n.9228C>A
5g.37122444C>ACA359496669CPLANE1c.9003G>T (p.Lys3001Asn)
n.864G>T
c.8841G>T (p.Lys2947Asn)
c.6015G>T (n.6015G>T)
n.342-660G>T
c.6039G>T (p.Lys2013Asn)
c.9000G>T (p.Lys3000Asn)
c.8892G>T (p.Lys2964Asn)
c.8874G>T (p.Lys2958Asn)
c.5646G>T (p.Lys1882Asn)
c.3576G>T (p.Lys1192Asn)
c.8949G>T (p.Lys2983Asn)
c.8895G>T (p.Lys2965Asn)
c.8685G>T (p.Lys2895Asn)
c.8331G>T (p.Lys2777Asn)
c.6228G>T (p.Lys2076Asn)
n.9178G>T
c.8814G>T (p.Lys2938Asn)
c.8010G>T (p.Lys2670Asn)
c.7815G>T (p.Lys2605Asn)
n.9227G>T
5g.37122444C=CA1539665356CPLANE1c.9003G= (p.Lys3001=)
n.864G=
c.8841G= (p.Lys2947=)
c.6015G= (n.6015G=)
n.342-660G=
c.6039G= (p.Lys2013=)
c.9000G= (p.Lys3000=)
c.8892G= (p.Lys2964=)
c.8874G= (p.Lys2958=)
c.5646G= (p.Lys1882=)
c.3576G= (p.Lys1192=)
c.8949G= (p.Lys2983=)
c.8895G= (p.Lys2965=)
c.8685G= (p.Lys2895=)
c.8331G= (p.Lys2777=)
c.6228G= (p.Lys2076=)
n.9178G=
c.8814G= (p.Lys2938=)
c.8010G= (p.Lys2670=)
c.7815G= (p.Lys2605=)
n.9227G=
5g.37122444C>GCA359496660CPLANE1c.9003G>C (p.Lys3001Asn)
n.864G>C
c.8841G>C (p.Lys2947Asn)
c.6015G>C (n.6015G>C)
n.342-660G>C
c.6039G>C (p.Lys2013Asn)
c.9000G>C (p.Lys3000Asn)
c.8892G>C (p.Lys2964Asn)
c.8874G>C (p.Lys2958Asn)
c.5646G>C (p.Lys1882Asn)
c.3576G>C (p.Lys1192Asn)
c.8949G>C (p.Lys2983Asn)
c.8895G>C (p.Lys2965Asn)
c.8685G>C (p.Lys2895Asn)
c.8331G>C (p.Lys2777Asn)
c.6228G>C (p.Lys2076Asn)
n.9178G>C
c.8814G>C (p.Lys2938Asn)
c.8010G>C (p.Lys2670Asn)
c.7815G>C (p.Lys2605Asn)
n.9227G>C
5g.37122444C>TCA3237601CPLANE1c.9003G>A (p.Lys3001=)
n.864G>A
c.8841G>A (p.Lys2947=)
c.6015G>A (n.6015G>A)
n.342-660G>A
c.6039G>A (p.Lys2013=)
c.9000G>A (p.Lys3000=)
c.8892G>A (p.Lys2964=)
c.8874G>A (p.Lys2958=)
c.5646G>A (p.Lys1882=)
c.3576G>A (p.Lys1192=)
c.8949G>A (p.Lys2983=)
c.8895G>A (p.Lys2965=)
c.8685G>A (p.Lys2895=)
c.8331G>A (p.Lys2777=)
c.6228G>A (p.Lys2076=)
n.9178G>A
c.8814G>A (p.Lys2938=)
c.8010G>A (p.Lys2670=)
c.7815G>A (p.Lys2605=)
n.9227G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37122445T>ACA359496673CPLANE1c.9002A>T (p.Lys3001Met)
n.863A>T
c.8840A>T (p.Lys2947Met)
c.6014A>T (n.6014A>T)
n.342-661A>T
c.6038A>T (p.Lys2013Met)
c.8999A>T (p.Lys3000Met)
c.8891A>T (p.Lys2964Met)
c.8873A>T (p.Lys2958Met)
c.5645A>T (p.Lys1882Met)
c.3575A>T (p.Lys1192Met)
c.8948A>T (p.Lys2983Met)
c.8894A>T (p.Lys2965Met)
c.8684A>T (p.Lys2895Met)
c.8330A>T (p.Lys2777Met)
c.6227A>T (p.Lys2076Met)
n.9177A>T
c.8813A>T (p.Lys2938Met)
c.8009A>T (p.Lys2670Met)
c.7814A>T (p.Lys2605Met)
n.9226A>T
5g.37122445T>CCA359496678CPLANE1c.9002A>G (p.Lys3001Arg)
n.863A>G
c.8840A>G (p.Lys2947Arg)
c.6014A>G (n.6014A>G)
n.342-661A>G
c.6038A>G (p.Lys2013Arg)
c.8999A>G (p.Lys3000Arg)
c.8891A>G (p.Lys2964Arg)
c.8873A>G (p.Lys2958Arg)
c.5645A>G (p.Lys1882Arg)
c.3575A>G (p.Lys1192Arg)
c.8948A>G (p.Lys2983Arg)
c.8894A>G (p.Lys2965Arg)
c.8684A>G (p.Lys2895Arg)
c.8330A>G (p.Lys2777Arg)
c.6227A>G (p.Lys2076Arg)
n.9177A>G
c.8813A>G (p.Lys2938Arg)
c.8009A>G (p.Lys2670Arg)
c.7814A>G (p.Lys2605Arg)
n.9226A>G
5g.37122445T>GCA359496680CPLANE1c.9002A>C (p.Lys3001Thr)
n.863A>C
c.8840A>C (p.Lys2947Thr)
c.6014A>C (n.6014A>C)
n.342-661A>C
c.6038A>C (p.Lys2013Thr)
c.8999A>C (p.Lys3000Thr)
c.8891A>C (p.Lys2964Thr)
c.8873A>C (p.Lys2958Thr)
c.5645A>C (p.Lys1882Thr)
c.3575A>C (p.Lys1192Thr)
c.8948A>C (p.Lys2983Thr)
c.8894A>C (p.Lys2965Thr)
c.8684A>C (p.Lys2895Thr)
c.8330A>C (p.Lys2777Thr)
c.6227A>C (p.Lys2076Thr)
n.9177A>C
c.8813A>C (p.Lys2938Thr)
c.8009A>C (p.Lys2670Thr)
c.7814A>C (p.Lys2605Thr)
n.9226A>C
5g.37122446T>ACA359496684CPLANE1c.9001A>T (p.Lys3001Ter)
n.862A>T
c.8839A>T (p.Lys2947Ter)
c.6013A>T (n.6013A>T)
n.342-662A>T
c.6037A>T (p.Lys2013Ter)
c.8998A>T (p.Lys3000Ter)
c.8890A>T (p.Lys2964Ter)
c.8872A>T (p.Lys2958Ter)
c.5644A>T (p.Lys1882Ter)
c.3574A>T (p.Lys1192Ter)
c.8947A>T (p.Lys2983Ter)
c.8893A>T (p.Lys2965Ter)
c.8683A>T (p.Lys2895Ter)
c.8329A>T (p.Lys2777Ter)
c.6226A>T (p.Lys2076Ter)
n.9176A>T
c.8812A>T (p.Lys2938Ter)
c.8008A>T (p.Lys2670Ter)
c.7813A>T (p.Lys2605Ter)
n.9225A>T
5g.37122446T>CCA359496695CPLANE1c.9001A>G (p.Lys3001Glu)
n.862A>G
c.8839A>G (p.Lys2947Glu)
c.6013A>G (n.6013A>G)
n.342-662A>G
c.6037A>G (p.Lys2013Glu)
c.8998A>G (p.Lys3000Glu)
c.8890A>G (p.Lys2964Glu)
c.8872A>G (p.Lys2958Glu)
c.5644A>G (p.Lys1882Glu)
c.3574A>G (p.Lys1192Glu)
c.8947A>G (p.Lys2983Glu)
c.8893A>G (p.Lys2965Glu)
c.8683A>G (p.Lys2895Glu)
c.8329A>G (p.Lys2777Glu)
c.6226A>G (p.Lys2076Glu)
n.9176A>G
c.8812A>G (p.Lys2938Glu)
c.8008A>G (p.Lys2670Glu)
c.7813A>G (p.Lys2605Glu)
n.9225A>G
5g.37122446T>GCA359496698CPLANE1c.9001A>C (p.Lys3001Gln)
n.862A>C
c.8839A>C (p.Lys2947Gln)
c.6013A>C (n.6013A>C)
n.342-662A>C
c.6037A>C (p.Lys2013Gln)
c.8998A>C (p.Lys3000Gln)
c.8890A>C (p.Lys2964Gln)
c.8872A>C (p.Lys2958Gln)
c.5644A>C (p.Lys1882Gln)
c.3574A>C (p.Lys1192Gln)
c.8947A>C (p.Lys2983Gln)
c.8893A>C (p.Lys2965Gln)
c.8683A>C (p.Lys2895Gln)
c.8329A>C (p.Lys2777Gln)
c.6226A>C (p.Lys2076Gln)
n.9176A>C
c.8812A>C (p.Lys2938Gln)
c.8008A>C (p.Lys2670Gln)
c.7813A>C (p.Lys2605Gln)
n.9225A>C
5g.37122447C>ACA359496701CPLANE1c.9000G>T (p.Met3000Ile)
n.861G>T
c.8838G>T (p.Met2946Ile)
c.6012G>T (n.6012G>T)
n.342-663G>T
c.6036G>T (p.Met2012Ile)
c.8997G>T (p.Met2999Ile)
c.8889G>T (p.Met2963Ile)
c.8871G>T (p.Met2957Ile)
c.5643G>T (p.Met1881Ile)
c.3573G>T (p.Met1191Ile)
c.8946G>T (p.Met2982Ile)
c.8892G>T (p.Met2964Ile)
c.8682G>T (p.Met2894Ile)
c.8328G>T (p.Met2776Ile)
c.6225G>T (p.Met2075Ile)
n.9175G>T
c.8811G>T (p.Met2937Ile)
c.8007G>T (p.Met2669Ile)
c.7812G>T (p.Met2604Ile)
n.9224G>T
5g.37122447C>GCA359496704CPLANE1c.9000G>C (p.Met3000Ile)
n.861G>C
c.8838G>C (p.Met2946Ile)
c.6012G>C (n.6012G>C)
n.342-663G>C
c.6036G>C (p.Met2012Ile)
c.8997G>C (p.Met2999Ile)
c.8889G>C (p.Met2963Ile)
c.8871G>C (p.Met2957Ile)
c.5643G>C (p.Met1881Ile)
c.3573G>C (p.Met1191Ile)
c.8946G>C (p.Met2982Ile)
c.8892G>C (p.Met2964Ile)
c.8682G>C (p.Met2894Ile)
c.8328G>C (p.Met2776Ile)
c.6225G>C (p.Met2075Ile)
n.9175G>C
c.8811G>C (p.Met2937Ile)
c.8007G>C (p.Met2669Ile)
c.7812G>C (p.Met2604Ile)
n.9224G>C
5g.37122447C>TCA359496708CPLANE1c.9000G>A (p.Met3000Ile)
n.861G>A
c.8838G>A (p.Met2946Ile)
c.6012G>A (n.6012G>A)
n.342-663G>A
c.6036G>A (p.Met2012Ile)
c.8997G>A (p.Met2999Ile)
c.8889G>A (p.Met2963Ile)
c.8871G>A (p.Met2957Ile)
c.5643G>A (p.Met1881Ile)
c.3573G>A (p.Met1191Ile)
c.8946G>A (p.Met2982Ile)
c.8892G>A (p.Met2964Ile)
c.8682G>A (p.Met2894Ile)
c.8328G>A (p.Met2776Ile)
c.6225G>A (p.Met2075Ile)
n.9175G>A
c.8811G>A (p.Met2937Ile)
c.8007G>A (p.Met2669Ile)
c.7812G>A (p.Met2604Ile)
n.9224G>A
5g.37122448A=CA1539665358CPLANE1c.8999T= (p.Met3000=)
n.860T=
c.8837T= (p.Met2946=)
c.6011T= (n.6011T=)
n.342-664T=
c.6035T= (p.Met2012=)
c.8996T= (p.Met2999=)
c.8888T= (p.Met2963=)
c.8870T= (p.Met2957=)
c.5642T= (p.Met1881=)
c.3572T= (p.Met1191=)
c.8945T= (p.Met2982=)
c.8891T= (p.Met2964=)
c.8681T= (p.Met2894=)
c.8327T= (p.Met2776=)
c.6224T= (p.Met2075=)
n.9174T=
c.8810T= (p.Met2937=)
c.8006T= (p.Met2669=)
c.7811T= (p.Met2604=)
n.9223T=
5g.37122448A>CCA359496711CPLANE1c.8999T>G (p.Met3000Arg)
n.860T>G
c.8837T>G (p.Met2946Arg)
c.6011T>G (n.6011T>G)
n.342-664T>G
c.6035T>G (p.Met2012Arg)
c.8996T>G (p.Met2999Arg)
c.8888T>G (p.Met2963Arg)
c.8870T>G (p.Met2957Arg)
c.5642T>G (p.Met1881Arg)
c.3572T>G (p.Met1191Arg)
c.8945T>G (p.Met2982Arg)
c.8891T>G (p.Met2964Arg)
c.8681T>G (p.Met2894Arg)
c.8327T>G (p.Met2776Arg)
c.6224T>G (p.Met2075Arg)
n.9174T>G
c.8810T>G (p.Met2937Arg)
c.8006T>G (p.Met2669Arg)
c.7811T>G (p.Met2604Arg)
n.9223T>G
5g.37122448A>GCA3237602CPLANE1c.8999T>C (p.Met3000Thr)
n.860T>C
c.8837T>C (p.Met2946Thr)
c.6011T>C (n.6011T>C)
n.342-664T>C
c.6035T>C (p.Met2012Thr)
c.8996T>C (p.Met2999Thr)
c.8888T>C (p.Met2963Thr)
c.8870T>C (p.Met2957Thr)
c.5642T>C (p.Met1881Thr)
c.3572T>C (p.Met1191Thr)
c.8945T>C (p.Met2982Thr)
c.8891T>C (p.Met2964Thr)
c.8681T>C (p.Met2894Thr)
c.8327T>C (p.Met2776Thr)
c.6224T>C (p.Met2075Thr)
n.9174T>C
c.8810T>C (p.Met2937Thr)
c.8006T>C (p.Met2669Thr)
c.7811T>C (p.Met2604Thr)
n.9223T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37122448A>TCA359496717CPLANE1c.8999T>A (p.Met3000Lys)
n.860T>A
c.8837T>A (p.Met2946Lys)
c.6011T>A (n.6011T>A)
n.342-664T>A
c.6035T>A (p.Met2012Lys)
c.8996T>A (p.Met2999Lys)
c.8888T>A (p.Met2963Lys)
c.8870T>A (p.Met2957Lys)
c.5642T>A (p.Met1881Lys)
c.3572T>A (p.Met1191Lys)
c.8945T>A (p.Met2982Lys)
c.8891T>A (p.Met2964Lys)
c.8681T>A (p.Met2894Lys)
c.8327T>A (p.Met2776Lys)
c.6224T>A (p.Met2075Lys)
n.9174T>A
c.8810T>A (p.Met2937Lys)
c.8006T>A (p.Met2669Lys)
c.7811T>A (p.Met2604Lys)
n.9223T>A
5g.37122449T>ACA359496735CPLANE1c.8998A>T (p.Met3000Leu)
n.859A>T
c.8836A>T (p.Met2946Leu)
c.6010A>T (n.6010A>T)
n.342-665A>T
c.6034A>T (p.Met2012Leu)
c.8995A>T (p.Met2999Leu)
c.8887A>T (p.Met2963Leu)
c.8869A>T (p.Met2957Leu)
c.5641A>T (p.Met1881Leu)
c.3571A>T (p.Met1191Leu)
c.8944A>T (p.Met2982Leu)
c.8890A>T (p.Met2964Leu)
c.8680A>T (p.Met2894Leu)
c.8326A>T (p.Met2776Leu)
c.6223A>T (p.Met2075Leu)
n.9173A>T
c.8809A>T (p.Met2937Leu)
c.8005A>T (p.Met2669Leu)
c.7810A>T (p.Met2604Leu)
n.9222A>T
5g.37122449T>CCA359496732CPLANE1c.8998A>G (p.Met3000Val)
n.859A>G
c.8836A>G (p.Met2946Val)
c.6010A>G (n.6010A>G)
n.342-665A>G
c.6034A>G (p.Met2012Val)
c.8995A>G (p.Met2999Val)
c.8887A>G (p.Met2963Val)
c.8869A>G (p.Met2957Val)
c.5641A>G (p.Met1881Val)
c.3571A>G (p.Met1191Val)
c.8944A>G (p.Met2982Val)
c.8890A>G (p.Met2964Val)
c.8680A>G (p.Met2894Val)
c.8326A>G (p.Met2776Val)
c.6223A>G (p.Met2075Val)
n.9173A>G
c.8809A>G (p.Met2937Val)
c.8005A>G (p.Met2669Val)
c.7810A>G (p.Met2604Val)
n.9222A>G
 gnomAD v4
5g.37122449T>GCA359496729CPLANE1c.8998A>C (p.Met3000Leu)
n.859A>C
c.8836A>C (p.Met2946Leu)
c.6010A>C (n.6010A>C)
n.342-665A>C
c.6034A>C (p.Met2012Leu)
c.8995A>C (p.Met2999Leu)
c.8887A>C (p.Met2963Leu)
c.8869A>C (p.Met2957Leu)
c.5641A>C (p.Met1881Leu)
c.3571A>C (p.Met1191Leu)
c.8944A>C (p.Met2982Leu)
c.8890A>C (p.Met2964Leu)
c.8680A>C (p.Met2894Leu)
c.8326A>C (p.Met2776Leu)
c.6223A>C (p.Met2075Leu)
n.9173A>C
c.8809A>C (p.Met2937Leu)
c.8005A>C (p.Met2669Leu)
c.7810A>C (p.Met2604Leu)
n.9222A>C
5g.37122450C>ACA359496741CPLANE1c.8997G>T (p.Lys2999Asn)
n.858G>T
c.8835G>T (p.Lys2945Asn)
c.6009G>T (n.6009G>T)
n.342-666G>T
c.6033G>T (p.Lys2011Asn)
c.8994G>T (p.Lys2998Asn)
c.8886G>T (p.Lys2962Asn)
c.8868G>T (p.Lys2956Asn)
c.5640G>T (p.Lys1880Asn)
c.3570G>T (p.Lys1190Asn)
c.8943G>T (p.Lys2981Asn)
c.8889G>T (p.Lys2963Asn)
c.8679G>T (p.Lys2893Asn)
c.8325G>T (p.Lys2775Asn)
c.6222G>T (p.Lys2074Asn)
n.9172G>T
c.8808G>T (p.Lys2936Asn)
c.8004G>T (p.Lys2668Asn)
c.7809G>T (p.Lys2603Asn)
n.9221G>T
5g.37122450C>GCA359496744CPLANE1c.8997G>C (p.Lys2999Asn)
n.858G>C
c.8835G>C (p.Lys2945Asn)
c.6009G>C (n.6009G>C)
n.342-666G>C
c.6033G>C (p.Lys2011Asn)
c.8994G>C (p.Lys2998Asn)
c.8886G>C (p.Lys2962Asn)
c.8868G>C (p.Lys2956Asn)
c.5640G>C (p.Lys1880Asn)
c.3570G>C (p.Lys1190Asn)
c.8943G>C (p.Lys2981Asn)
c.8889G>C (p.Lys2963Asn)
c.8679G>C (p.Lys2893Asn)
c.8325G>C (p.Lys2775Asn)
c.6222G>C (p.Lys2074Asn)
n.9172G>C
c.8808G>C (p.Lys2936Asn)
c.8004G>C (p.Lys2668Asn)
c.7809G>C (p.Lys2603Asn)
n.9221G>C
5g.37122450C>TCA443921894CPLANE1c.8997G>A (p.Lys2999=)
n.858G>A
c.8835G>A (p.Lys2945=)
c.6009G>A (n.6009G>A)
n.342-666G>A
c.6033G>A (p.Lys2011=)
c.8994G>A (p.Lys2998=)
c.8886G>A (p.Lys2962=)
c.8868G>A (p.Lys2956=)
c.5640G>A (p.Lys1880=)
c.3570G>A (p.Lys1190=)
c.8943G>A (p.Lys2981=)
c.8889G>A (p.Lys2963=)
c.8679G>A (p.Lys2893=)
c.8325G>A (p.Lys2775=)
c.6222G>A (p.Lys2074=)
n.9172G>A
c.8808G>A (p.Lys2936=)
c.8004G>A (p.Lys2668=)
c.7809G>A (p.Lys2603=)
n.9221G>A
5g.37122450_37122451delinsCTCA1539665359CPLANE1c.8996_8997delinsAG (p.Lys2999=)
n.857_858delinsAG
c.8834_8835delinsAG (p.Lys2945=)
c.6008_6009delinsAG (n.6008_6009delinsAG)
n.342-667_342-666delinsAG
c.6032_6033delinsAG (p.Lys2011=)
c.8993_8994delinsAG (p.Lys2998=)
c.8885_8886delinsAG (p.Lys2962=)
c.8867_8868delinsAG (p.Lys2956=)
c.5639_5640delinsAG (p.Lys1880=)
c.3569_3570delinsAG (p.Lys1190=)
c.8942_8943delinsAG (p.Lys2981=)
c.8888_8889delinsAG (p.Lys2963=)
c.8678_8679delinsAG (p.Lys2893=)
c.8324_8325delinsAG (p.Lys2775=)
c.6221_6222delinsAG (p.Lys2074=)
n.9171_9172delinsAG
c.8807_8808delinsAG (p.Lys2936=)
c.8003_8004delinsAG (p.Lys2668=)
c.7808_7809delinsAG (p.Lys2603=)
n.9220_9221delinsAG
5g.37122451T>ACA359496750CPLANE1c.8996A>T (p.Lys2999Met)
n.857A>T
c.8834A>T (p.Lys2945Met)
c.6008A>T (n.6008A>T)
n.342-667A>T
c.6032A>T (p.Lys2011Met)
c.8993A>T (p.Lys2998Met)
c.8885A>T (p.Lys2962Met)
c.8867A>T (p.Lys2956Met)
c.5639A>T (p.Lys1880Met)
c.3569A>T (p.Lys1190Met)
c.8942A>T (p.Lys2981Met)
c.8888A>T (p.Lys2963Met)
c.8678A>T (p.Lys2893Met)
c.8324A>T (p.Lys2775Met)
c.6221A>T (p.Lys2074Met)
n.9171A>T
c.8807A>T (p.Lys2936Met)
c.8003A>T (p.Lys2668Met)
c.7808A>T (p.Lys2603Met)
n.9220A>T
5g.37122451T>CCA359496753CPLANE1c.8996A>G (p.Lys2999Arg)
n.857A>G
c.8834A>G (p.Lys2945Arg)
c.6008A>G (n.6008A>G)
n.342-667A>G
c.6032A>G (p.Lys2011Arg)
c.8993A>G (p.Lys2998Arg)
c.8885A>G (p.Lys2962Arg)
c.8867A>G (p.Lys2956Arg)
c.5639A>G (p.Lys1880Arg)
c.3569A>G (p.Lys1190Arg)
c.8942A>G (p.Lys2981Arg)
c.8888A>G (p.Lys2963Arg)
c.8678A>G (p.Lys2893Arg)
c.8324A>G (p.Lys2775Arg)
c.6221A>G (p.Lys2074Arg)
n.9171A>G
c.8807A>G (p.Lys2936Arg)
c.8003A>G (p.Lys2668Arg)
c.7808A>G (p.Lys2603Arg)
n.9220A>G
5g.37122451T>GCA359496757CPLANE1c.8996A>C (p.Lys2999Thr)
n.857A>C
c.8834A>C (p.Lys2945Thr)
c.6008A>C (n.6008A>C)
n.342-667A>C
c.6032A>C (p.Lys2011Thr)
c.8993A>C (p.Lys2998Thr)
c.8885A>C (p.Lys2962Thr)
c.8867A>C (p.Lys2956Thr)
c.5639A>C (p.Lys1880Thr)
c.3569A>C (p.Lys1190Thr)
c.8942A>C (p.Lys2981Thr)
c.8888A>C (p.Lys2963Thr)
c.8678A>C (p.Lys2893Thr)
c.8324A>C (p.Lys2775Thr)
c.6221A>C (p.Lys2074Thr)
n.9171A>C
c.8807A>C (p.Lys2936Thr)
c.8003A>C (p.Lys2668Thr)
c.7808A>C (p.Lys2603Thr)
n.9220A>C
5g.37122454delCA658655860CPLANE1c.8996del (p.Lys2999ArgfsTer2)
n.857del
c.8834del (p.Lys2945ArgfsTer2)
c.6008del (n.6008del)
n.342-667del
c.6032del (p.Lys2011ArgfsTer2)
c.8993del (p.Lys2998ArgfsTer2)
c.8885del (p.Lys2962ArgfsTer2)
c.8867del (p.Lys2956ArgfsTer2)
c.5639del (p.Lys1880ArgfsTer2)
c.3569del (p.Lys1190ArgfsTer2)
c.8942del (p.Lys2981ArgfsTer2)
c.8888del (p.Lys2963ArgfsTer2)
c.8678del (p.Lys2893ArgfsTer2)
c.8324del (p.Lys2775ArgfsTer2)
c.6221del (p.Lys2074ArgfsTer2)
n.9171del
c.8807del (p.Lys2936ArgfsTer2)
c.8003del (p.Lys2668ArgfsTer2)
c.7808del (p.Lys2603ArgfsTer2)
n.9220del
 ClinVar dbSNP
5g.37122452T>ACA359496760CPLANE1c.8995A>T (p.Lys2999Ter)
n.856A>T
c.8833A>T (p.Lys2945Ter)
c.6007A>T (n.6007A>T)
n.342-668A>T
c.6031A>T (p.Lys2011Ter)
c.8992A>T (p.Lys2998Ter)
c.8884A>T (p.Lys2962Ter)
c.8866A>T (p.Lys2956Ter)
c.5638A>T (p.Lys1880Ter)
c.3568A>T (p.Lys1190Ter)
c.8941A>T (p.Lys2981Ter)
c.8887A>T (p.Lys2963Ter)
c.8677A>T (p.Lys2893Ter)
c.8323A>T (p.Lys2775Ter)
c.6220A>T (p.Lys2074Ter)
n.9170A>T
c.8806A>T (p.Lys2936Ter)
c.8002A>T (p.Lys2668Ter)
c.7807A>T (p.Lys2603Ter)
n.9219A>T
5g.37122452T>CCA359496763CPLANE1c.8995A>G (p.Lys2999Glu)
n.856A>G
c.8833A>G (p.Lys2945Glu)
c.6007A>G (n.6007A>G)
n.342-668A>G
c.6031A>G (p.Lys2011Glu)
c.8992A>G (p.Lys2998Glu)
c.8884A>G (p.Lys2962Glu)
c.8866A>G (p.Lys2956Glu)
c.5638A>G (p.Lys1880Glu)
c.3568A>G (p.Lys1190Glu)
c.8941A>G (p.Lys2981Glu)
c.8887A>G (p.Lys2963Glu)
c.8677A>G (p.Lys2893Glu)
c.8323A>G (p.Lys2775Glu)
c.6220A>G (p.Lys2074Glu)
n.9170A>G
c.8806A>G (p.Lys2936Glu)
c.8002A>G (p.Lys2668Glu)
c.7807A>G (p.Lys2603Glu)
n.9219A>G
 dbSNP gnomAD v2
5g.37122452T>GCA359496776CPLANE1c.8995A>C (p.Lys2999Gln)
n.856A>C
c.8833A>C (p.Lys2945Gln)
c.6007A>C (n.6007A>C)
n.342-668A>C
c.6031A>C (p.Lys2011Gln)
c.8992A>C (p.Lys2998Gln)
c.8884A>C (p.Lys2962Gln)
c.8866A>C (p.Lys2956Gln)
c.5638A>C (p.Lys1880Gln)
c.3568A>C (p.Lys1190Gln)
c.8941A>C (p.Lys2981Gln)
c.8887A>C (p.Lys2963Gln)
c.8677A>C (p.Lys2893Gln)
c.8323A>C (p.Lys2775Gln)
c.6220A>C (p.Lys2074Gln)
n.9170A>C
c.8806A>C (p.Lys2936Gln)
c.8002A>C (p.Lys2668Gln)
c.7807A>C (p.Lys2603Gln)
n.9219A>C
5g.37122452T=CA1539665363CPLANE1c.8995A= (p.Lys2999=)
n.856A=
c.8833A= (p.Lys2945=)
c.6007A= (n.6007A=)
n.342-668A=
c.6031A= (p.Lys2011=)
c.8992A= (p.Lys2998=)
c.8884A= (p.Lys2962=)
c.8866A= (p.Lys2956=)
c.5638A= (p.Lys1880=)
c.3568A= (p.Lys1190=)
c.8941A= (p.Lys2981=)
c.8887A= (p.Lys2963=)
c.8677A= (p.Lys2893=)
c.8323A= (p.Lys2775=)
c.6220A= (p.Lys2074=)
n.9170A=
c.8806A= (p.Lys2936=)
c.8002A= (p.Lys2668=)
c.7807A= (p.Lys2603=)
n.9219A=
5g.37122453T>ACA359496787CPLANE1c.8994A>T (p.Gln2998His)
n.855A>T
c.8832A>T (p.Gln2944His)
c.6006A>T (n.6006A>T)
n.342-669A>T
c.6030A>T (p.Gln2010His)
c.8991A>T (p.Gln2997His)
c.8883A>T (p.Gln2961His)
c.8865A>T (p.Gln2955His)
c.5637A>T (p.Gln1879His)
c.3567A>T (p.Gln1189His)
c.8940A>T (p.Gln2980His)
c.8886A>T (p.Gln2962His)
c.8676A>T (p.Gln2892His)
c.8322A>T (p.Gln2774His)
c.6219A>T (p.Gln2073His)
n.9169A>T
c.8805A>T (p.Gln2935His)
c.8001A>T (p.Gln2667His)
c.7806A>T (p.Gln2602His)
n.9218A>T
5g.37122453T>CCA443921895CPLANE1c.8994A>G (p.Gln2998=)
n.855A>G
c.8832A>G (p.Gln2944=)
c.6006A>G (n.6006A>G)
n.342-669A>G
c.6030A>G (p.Gln2010=)
c.8991A>G (p.Gln2997=)
c.8883A>G (p.Gln2961=)
c.8865A>G (p.Gln2955=)
c.5637A>G (p.Gln1879=)
c.3567A>G (p.Gln1189=)
c.8940A>G (p.Gln2980=)
c.8886A>G (p.Gln2962=)
c.8676A>G (p.Gln2892=)
c.8322A>G (p.Gln2774=)
c.6219A>G (p.Gln2073=)
n.9169A>G
c.8805A>G (p.Gln2935=)
c.8001A>G (p.Gln2667=)
c.7806A>G (p.Gln2602=)
n.9218A>G
5g.37122453T>GCA359496789CPLANE1c.8994A>C (p.Gln2998His)
n.855A>C
c.8832A>C (p.Gln2944His)
c.6006A>C (n.6006A>C)
n.342-669A>C
c.6030A>C (p.Gln2010His)
c.8991A>C (p.Gln2997His)
c.8883A>C (p.Gln2961His)
c.8865A>C (p.Gln2955His)
c.5637A>C (p.Gln1879His)
c.3567A>C (p.Gln1189His)
c.8940A>C (p.Gln2980His)
c.8886A>C (p.Gln2962His)
c.8676A>C (p.Gln2892His)
c.8322A>C (p.Gln2774His)
c.6219A>C (p.Gln2073His)
n.9169A>C
c.8805A>C (p.Gln2935His)
c.8001A>C (p.Gln2667His)
c.7806A>C (p.Gln2602His)
n.9218A>C
5g.37122454T>ACA359496799CPLANE1c.8993A>T (p.Gln2998Leu)
n.854A>T
c.8831A>T (p.Gln2944Leu)
c.6005A>T (n.6005A>T)
n.342-670A>T
c.6029A>T (p.Gln2010Leu)
c.8990A>T (p.Gln2997Leu)
c.8882A>T (p.Gln2961Leu)
c.8864A>T (p.Gln2955Leu)
c.5636A>T (p.Gln1879Leu)
c.3566A>T (p.Gln1189Leu)
c.8939A>T (p.Gln2980Leu)
c.8885A>T (p.Gln2962Leu)
c.8675A>T (p.Gln2892Leu)
c.8321A>T (p.Gln2774Leu)
c.6218A>T (p.Gln2073Leu)
n.9168A>T
c.8804A>T (p.Gln2935Leu)
c.8000A>T (p.Gln2667Leu)
c.7805A>T (p.Gln2602Leu)
n.9217A>T
5g.37122454T>CCA359496809CPLANE1c.8993A>G (p.Gln2998Arg)
n.854A>G
c.8831A>G (p.Gln2944Arg)
c.6005A>G (n.6005A>G)
n.342-670A>G
c.6029A>G (p.Gln2010Arg)
c.8990A>G (p.Gln2997Arg)
c.8882A>G (p.Gln2961Arg)
c.8864A>G (p.Gln2955Arg)
c.5636A>G (p.Gln1879Arg)
c.3566A>G (p.Gln1189Arg)
c.8939A>G (p.Gln2980Arg)
c.8885A>G (p.Gln2962Arg)
c.8675A>G (p.Gln2892Arg)
c.8321A>G (p.Gln2774Arg)
c.6218A>G (p.Gln2073Arg)
n.9168A>G
c.8804A>G (p.Gln2935Arg)
c.8000A>G (p.Gln2667Arg)
c.7805A>G (p.Gln2602Arg)
n.9217A>G
 dbSNP gnomAD v4
5g.37122454T>GCA359496810CPLANE1c.8993A>C (p.Gln2998Pro)
n.854A>C
c.8831A>C (p.Gln2944Pro)
c.6005A>C (n.6005A>C)
n.342-670A>C
c.6029A>C (p.Gln2010Pro)
c.8990A>C (p.Gln2997Pro)
c.8882A>C (p.Gln2961Pro)
c.8864A>C (p.Gln2955Pro)
c.5636A>C (p.Gln1879Pro)
c.3566A>C (p.Gln1189Pro)
c.8939A>C (p.Gln2980Pro)
c.8885A>C (p.Gln2962Pro)
c.8675A>C (p.Gln2892Pro)
c.8321A>C (p.Gln2774Pro)
c.6218A>C (p.Gln2073Pro)
n.9168A>C
c.8804A>C (p.Gln2935Pro)
c.8000A>C (p.Gln2667Pro)
c.7805A>C (p.Gln2602Pro)
n.9217A>C
5g.37122455G>ACA359496835CPLANE1c.8992C>T (p.Gln2998Ter)
n.853C>T
c.8830C>T (p.Gln2944Ter)
c.6004C>T (n.6004C>T)
n.342-671C>T
c.6028C>T (p.Gln2010Ter)
c.8989C>T (p.Gln2997Ter)
c.8881C>T (p.Gln2961Ter)
c.8863C>T (p.Gln2955Ter)
c.5635C>T (p.Gln1879Ter)
c.3565C>T (p.Gln1189Ter)
c.8938C>T (p.Gln2980Ter)
c.8884C>T (p.Gln2962Ter)
c.8674C>T (p.Gln2892Ter)
c.8320C>T (p.Gln2774Ter)
c.6217C>T (p.Gln2073Ter)
n.9167C>T
c.8803C>T (p.Gln2935Ter)
c.7999C>T (p.Gln2667Ter)
c.7804C>T (p.Gln2602Ter)
n.9216C>T
 ClinVar dbSNP
5g.37122455G>CCA359496832CPLANE1c.8992C>G (p.Gln2998Glu)
n.853C>G
c.8830C>G (p.Gln2944Glu)
c.6004C>G (n.6004C>G)
n.342-671C>G
c.6028C>G (p.Gln2010Glu)
c.8989C>G (p.Gln2997Glu)
c.8881C>G (p.Gln2961Glu)
c.8863C>G (p.Gln2955Glu)
c.5635C>G (p.Gln1879Glu)
c.3565C>G (p.Gln1189Glu)
c.8938C>G (p.Gln2980Glu)
c.8884C>G (p.Gln2962Glu)
c.8674C>G (p.Gln2892Glu)
c.8320C>G (p.Gln2774Glu)
c.6217C>G (p.Gln2073Glu)
n.9167C>G
c.8803C>G (p.Gln2935Glu)
c.7999C>G (p.Gln2667Glu)
c.7804C>G (p.Gln2602Glu)
n.9216C>G
 dbSNP gnomAD v2 gnomAD v4
5g.37122455G=CA1539665365CPLANE1c.8992C= (p.Gln2998=)
n.853C=
c.8830C= (p.Gln2944=)
c.6004C= (n.6004C=)
n.342-671C=
c.6028C= (p.Gln2010=)
c.8989C= (p.Gln2997=)
c.8881C= (p.Gln2961=)
c.8863C= (p.Gln2955=)
c.5635C= (p.Gln1879=)
c.3565C= (p.Gln1189=)
c.8938C= (p.Gln2980=)
c.8884C= (p.Gln2962=)
c.8674C= (p.Gln2892=)
c.8320C= (p.Gln2774=)
c.6217C= (p.Gln2073=)
n.9167C=
c.8803C= (p.Gln2935=)
c.7999C= (p.Gln2667=)
c.7804C= (p.Gln2602=)
n.9216C=
5g.37122455G>TCA359496830CPLANE1c.8992C>A (p.Gln2998Lys)
n.853C>A
c.8830C>A (p.Gln2944Lys)
c.6004C>A (n.6004C>A)
n.342-671C>A
c.6028C>A (p.Gln2010Lys)
c.8989C>A (p.Gln2997Lys)
c.8881C>A (p.Gln2961Lys)
c.8863C>A (p.Gln2955Lys)
c.5635C>A (p.Gln1879Lys)
c.3565C>A (p.Gln1189Lys)
c.8938C>A (p.Gln2980Lys)
c.8884C>A (p.Gln2962Lys)
c.8674C>A (p.Gln2892Lys)
c.8320C>A (p.Gln2774Lys)
c.6217C>A (p.Gln2073Lys)
n.9167C>A
c.8803C>A (p.Gln2935Lys)
c.7999C>A (p.Gln2667Lys)
c.7804C>A (p.Gln2602Lys)
n.9216C>A
5g.37122456T>ACA359496838CPLANE1c.8991A>T (p.Arg2997Ser)
n.852A>T
c.8829A>T (p.Arg2943Ser)
c.6003A>T (n.6003A>T)
n.342-672A>T
c.6027A>T (p.Arg2009Ser)
c.8988A>T (p.Arg2996Ser)
c.8880A>T (p.Arg2960Ser)
c.8862A>T (p.Arg2954Ser)
c.5634A>T (p.Arg1878Ser)
c.3564A>T (p.Arg1188Ser)
c.8937A>T (p.Arg2979Ser)
c.8883A>T (p.Arg2961Ser)
c.8673A>T (p.Arg2891Ser)
c.8319A>T (p.Arg2773Ser)
c.6216A>T (p.Arg2072Ser)
n.9166A>T
c.8802A>T (p.Arg2934Ser)
c.7998A>T (p.Arg2666Ser)
c.7803A>T (p.Arg2601Ser)
n.9215A>T
 gnomAD v4
5g.37122456T>CCA443921896CPLANE1c.8991A>G (p.Arg2997=)
n.852A>G
c.8829A>G (p.Arg2943=)
c.6003A>G (n.6003A>G)
n.342-672A>G
c.6027A>G (p.Arg2009=)
c.8988A>G (p.Arg2996=)
c.8880A>G (p.Arg2960=)
c.8862A>G (p.Arg2954=)
c.5634A>G (p.Arg1878=)
c.3564A>G (p.Arg1188=)
c.8937A>G (p.Arg2979=)
c.8883A>G (p.Arg2961=)
c.8673A>G (p.Arg2891=)
c.8319A>G (p.Arg2773=)
c.6216A>G (p.Arg2072=)
n.9166A>G
c.8802A>G (p.Arg2934=)
c.7998A>G (p.Arg2666=)
c.7803A>G (p.Arg2601=)
n.9215A>G
 gnomAD v4
5g.37122456T>GCA359496839CPLANE1c.8991A>C (p.Arg2997Ser)
n.852A>C
c.8829A>C (p.Arg2943Ser)
c.6003A>C (n.6003A>C)
n.342-672A>C
c.6027A>C (p.Arg2009Ser)
c.8988A>C (p.Arg2996Ser)
c.8880A>C (p.Arg2960Ser)
c.8862A>C (p.Arg2954Ser)
c.5634A>C (p.Arg1878Ser)
c.3564A>C (p.Arg1188Ser)
c.8937A>C (p.Arg2979Ser)
c.8883A>C (p.Arg2961Ser)
c.8673A>C (p.Arg2891Ser)
c.8319A>C (p.Arg2773Ser)
c.6216A>C (p.Arg2072Ser)
n.9166A>C
c.8802A>C (p.Arg2934Ser)
c.7998A>C (p.Arg2666Ser)
c.7803A>C (p.Arg2601Ser)
n.9215A>C
5g.37122457C>ACA359496840CPLANE1c.8990G>T (p.Arg2997Ile)
n.851G>T
c.8828G>T (p.Arg2943Ile)
c.6002G>T (n.6002G>T)
n.342-673G>T
c.6026G>T (p.Arg2009Ile)
c.8987G>T (p.Arg2996Ile)
c.8879G>T (p.Arg2960Ile)
c.8861G>T (p.Arg2954Ile)
c.5633G>T (p.Arg1878Ile)
c.3563G>T (p.Arg1188Ile)
c.8936G>T (p.Arg2979Ile)
c.8882G>T (p.Arg2961Ile)
c.8672G>T (p.Arg2891Ile)
c.8318G>T (p.Arg2773Ile)
c.6215G>T (p.Arg2072Ile)
n.9165G>T
c.8801G>T (p.Arg2934Ile)
c.7997G>T (p.Arg2666Ile)
c.7802G>T (p.Arg2601Ile)
n.9214G>T
 dbSNP
5g.37122457C=CA1539665367CPLANE1c.8990G= (p.Arg2997=)
n.851G=
c.8828G= (p.Arg2943=)
c.6002G= (n.6002G=)
n.342-673G=
c.6026G= (p.Arg2009=)
c.8987G= (p.Arg2996=)
c.8879G= (p.Arg2960=)
c.8861G= (p.Arg2954=)
c.5633G= (p.Arg1878=)
c.3563G= (p.Arg1188=)
c.8936G= (p.Arg2979=)
c.8882G= (p.Arg2961=)
c.8672G= (p.Arg2891=)
c.8318G= (p.Arg2773=)
c.6215G= (p.Arg2072=)
n.9165G=
c.8801G= (p.Arg2934=)
c.7997G= (p.Arg2666=)
c.7802G= (p.Arg2601=)
n.9214G=
5g.37122457C>GCA359496841CPLANE1c.8990G>C (p.Arg2997Thr)
n.851G>C
c.8828G>C (p.Arg2943Thr)
c.6002G>C (n.6002G>C)
n.342-673G>C
c.6026G>C (p.Arg2009Thr)
c.8987G>C (p.Arg2996Thr)
c.8879G>C (p.Arg2960Thr)
c.8861G>C (p.Arg2954Thr)
c.5633G>C (p.Arg1878Thr)
c.3563G>C (p.Arg1188Thr)
c.8936G>C (p.Arg2979Thr)
c.8882G>C (p.Arg2961Thr)
c.8672G>C (p.Arg2891Thr)
c.8318G>C (p.Arg2773Thr)
c.6215G>C (p.Arg2072Thr)
n.9165G>C
c.8801G>C (p.Arg2934Thr)
c.7997G>C (p.Arg2666Thr)
c.7802G>C (p.Arg2601Thr)
n.9214G>C
5g.37122457C>TCA359496842CPLANE1c.8990G>A (p.Arg2997Lys)
n.851G>A
c.8828G>A (p.Arg2943Lys)
c.6002G>A (n.6002G>A)
n.342-673G>A
c.6026G>A (p.Arg2009Lys)
c.8987G>A (p.Arg2996Lys)
c.8879G>A (p.Arg2960Lys)
c.8861G>A (p.Arg2954Lys)
c.5633G>A (p.Arg1878Lys)
c.3563G>A (p.Arg1188Lys)
c.8936G>A (p.Arg2979Lys)
c.8882G>A (p.Arg2961Lys)
c.8672G>A (p.Arg2891Lys)
c.8318G>A (p.Arg2773Lys)
c.6215G>A (p.Arg2072Lys)
n.9165G>A
c.8801G>A (p.Arg2934Lys)
c.7997G>A (p.Arg2666Lys)
c.7802G>A (p.Arg2601Lys)
n.9214G>A
5g.37122458T>ACA359496845CPLANE1c.8989A>T (p.Arg2997Ter)
n.850A>T
c.8827A>T (p.Arg2943Ter)
c.6001A>T (n.6001A>T)
n.342-674A>T
c.6025A>T (p.Arg2009Ter)
c.8986A>T (p.Arg2996Ter)
c.8878A>T (p.Arg2960Ter)
c.8860A>T (p.Arg2954Ter)
c.5632A>T (p.Arg1878Ter)
c.3562A>T (p.Arg1188Ter)
c.8935A>T (p.Arg2979Ter)
c.8881A>T (p.Arg2961Ter)
c.8671A>T (p.Arg2891Ter)
c.8317A>T (p.Arg2773Ter)
c.6214A>T (p.Arg2072Ter)
n.9164A>T
c.8800A>T (p.Arg2934Ter)
c.7996A>T (p.Arg2666Ter)
c.7801A>T (p.Arg2601Ter)
n.9213A>T
5g.37122458T>CCA359496846CPLANE1c.8989A>G (p.Arg2997Gly)
n.850A>G
c.8827A>G (p.Arg2943Gly)
c.6001A>G (n.6001A>G)
n.342-674A>G
c.6025A>G (p.Arg2009Gly)
c.8986A>G (p.Arg2996Gly)
c.8878A>G (p.Arg2960Gly)
c.8860A>G (p.Arg2954Gly)
c.5632A>G (p.Arg1878Gly)
c.3562A>G (p.Arg1188Gly)
c.8935A>G (p.Arg2979Gly)
c.8881A>G (p.Arg2961Gly)
c.8671A>G (p.Arg2891Gly)
c.8317A>G (p.Arg2773Gly)
c.6214A>G (p.Arg2072Gly)
n.9164A>G
c.8800A>G (p.Arg2934Gly)
c.7996A>G (p.Arg2666Gly)
c.7801A>G (p.Arg2601Gly)
n.9213A>G
5g.37122458T>GCA443921897CPLANE1c.8989A>C (p.Arg2997=)
n.850A>C
c.8827A>C (p.Arg2943=)
c.6001A>C (n.6001A>C)
n.342-674A>C
c.6025A>C (p.Arg2009=)
c.8986A>C (p.Arg2996=)
c.8878A>C (p.Arg2960=)
c.8860A>C (p.Arg2954=)
c.5632A>C (p.Arg1878=)
c.3562A>C (p.Arg1188=)
c.8935A>C (p.Arg2979=)
c.8881A>C (p.Arg2961=)
c.8671A>C (p.Arg2891=)
c.8317A>C (p.Arg2773=)
c.6214A>C (p.Arg2072=)
n.9164A>C
c.8800A>C (p.Arg2934=)
c.7996A>C (p.Arg2666=)
c.7801A>C (p.Arg2601=)
n.9213A>C
5g.37122459C>ACA443921898CPLANE1c.8988G>T (p.Leu2996=)
n.849G>T
c.8826G>T (p.Leu2942=)
c.6000G>T (n.6000G>T)
n.342-675G>T
c.6024G>T (p.Leu2008=)
c.8985G>T (p.Leu2995=)
c.8877G>T (p.Leu2959=)
c.8859G>T (p.Leu2953=)
c.5631G>T (p.Leu1877=)
c.3561G>T (p.Leu1187=)
c.8934G>T (p.Leu2978=)
c.8880G>T (p.Leu2960=)
c.8670G>T (p.Leu2890=)
c.8316G>T (p.Leu2772=)
c.6213G>T (p.Leu2071=)
n.9163G>T
c.8799G>T (p.Leu2933=)
c.7995G>T (p.Leu2665=)
c.7800G>T (p.Leu2600=)
n.9212G>T
 dbSNP gnomAD v2
5g.37122459C=CA1539665369CPLANE1c.8988G= (p.Leu2996=)
n.849G=
c.8826G= (p.Leu2942=)
c.6000G= (n.6000G=)
n.342-675G=
c.6024G= (p.Leu2008=)
c.8985G= (p.Leu2995=)
c.8877G= (p.Leu2959=)
c.8859G= (p.Leu2953=)
c.5631G= (p.Leu1877=)
c.3561G= (p.Leu1187=)
c.8934G= (p.Leu2978=)
c.8880G= (p.Leu2960=)
c.8670G= (p.Leu2890=)
c.8316G= (p.Leu2772=)
c.6213G= (p.Leu2071=)
n.9163G=
c.8799G= (p.Leu2933=)
c.7995G= (p.Leu2665=)
c.7800G= (p.Leu2600=)
n.9212G=
5g.37122459C>GCA443921899CPLANE1c.8988G>C (p.Leu2996=)
n.849G>C
c.8826G>C (p.Leu2942=)
c.6000G>C (n.6000G>C)
n.342-675G>C
c.6024G>C (p.Leu2008=)
c.8985G>C (p.Leu2995=)
c.8877G>C (p.Leu2959=)
c.8859G>C (p.Leu2953=)
c.5631G>C (p.Leu1877=)
c.3561G>C (p.Leu1187=)
c.8934G>C (p.Leu2978=)
c.8880G>C (p.Leu2960=)
c.8670G>C (p.Leu2890=)
c.8316G>C (p.Leu2772=)
c.6213G>C (p.Leu2071=)
n.9163G>C
c.8799G>C (p.Leu2933=)
c.7995G>C (p.Leu2665=)
c.7800G>C (p.Leu2600=)
n.9212G>C
5g.37122459C>TCA443921900CPLANE1c.8988G>A (p.Leu2996=)
n.849G>A
c.8826G>A (p.Leu2942=)
c.6000G>A (n.6000G>A)
n.342-675G>A
c.6024G>A (p.Leu2008=)
c.8985G>A (p.Leu2995=)
c.8877G>A (p.Leu2959=)
c.8859G>A (p.Leu2953=)
c.5631G>A (p.Leu1877=)
c.3561G>A (p.Leu1187=)
c.8934G>A (p.Leu2978=)
c.8880G>A (p.Leu2960=)
c.8670G>A (p.Leu2890=)
c.8316G>A (p.Leu2772=)
c.6213G>A (p.Leu2071=)
n.9163G>A
c.8799G>A (p.Leu2933=)
c.7995G>A (p.Leu2665=)
c.7800G>A (p.Leu2600=)
n.9212G>A
5g.37122460A>CCA359496851CPLANE1c.8987T>G (p.Leu2996Arg)
n.848T>G
c.8825T>G (p.Leu2942Arg)
c.5999T>G (n.5999T>G)
n.342-676T>G
c.6023T>G (p.Leu2008Arg)
c.8984T>G (p.Leu2995Arg)
c.8876T>G (p.Leu2959Arg)
c.8858T>G (p.Leu2953Arg)
c.5630T>G (p.Leu1877Arg)
c.3560T>G (p.Leu1187Arg)
c.8933T>G (p.Leu2978Arg)
c.8879T>G (p.Leu2960Arg)
c.8669T>G (p.Leu2890Arg)
c.8315T>G (p.Leu2772Arg)
c.6212T>G (p.Leu2071Arg)
n.9162T>G
c.8798T>G (p.Leu2933Arg)
c.7994T>G (p.Leu2665Arg)
c.7799T>G (p.Leu2600Arg)
n.9211T>G
5g.37122460A>GCA359496865CPLANE1c.8987T>C (p.Leu2996Pro)
n.848T>C
c.8825T>C (p.Leu2942Pro)
c.5999T>C (n.5999T>C)
n.342-676T>C
c.6023T>C (p.Leu2008Pro)
c.8984T>C (p.Leu2995Pro)
c.8876T>C (p.Leu2959Pro)
c.8858T>C (p.Leu2953Pro)
c.5630T>C (p.Leu1877Pro)
c.3560T>C (p.Leu1187Pro)
c.8933T>C (p.Leu2978Pro)
c.8879T>C (p.Leu2960Pro)
c.8669T>C (p.Leu2890Pro)
c.8315T>C (p.Leu2772Pro)
c.6212T>C (p.Leu2071Pro)
n.9162T>C
c.8798T>C (p.Leu2933Pro)
c.7994T>C (p.Leu2665Pro)
c.7799T>C (p.Leu2600Pro)
n.9211T>C
5g.37122460A>TCA359496871CPLANE1c.8987T>A (p.Leu2996Gln)
n.848T>A
c.8825T>A (p.Leu2942Gln)
c.5999T>A (n.5999T>A)
n.342-676T>A
c.6023T>A (p.Leu2008Gln)
c.8984T>A (p.Leu2995Gln)
c.8876T>A (p.Leu2959Gln)
c.8858T>A (p.Leu2953Gln)
c.5630T>A (p.Leu1877Gln)
c.3560T>A (p.Leu1187Gln)
c.8933T>A (p.Leu2978Gln)
c.8879T>A (p.Leu2960Gln)
c.8669T>A (p.Leu2890Gln)
c.8315T>A (p.Leu2772Gln)
c.6212T>A (p.Leu2071Gln)
n.9162T>A
c.8798T>A (p.Leu2933Gln)
c.7994T>A (p.Leu2665Gln)
c.7799T>A (p.Leu2600Gln)
n.9211T>A
5g.37122461G>ACA443921901CPLANE1c.8986C>T (p.Leu2996=)
n.847C>T
c.8824C>T (p.Leu2942=)
c.5998C>T (n.5998C>T)
n.342-677C>T
c.6022C>T (p.Leu2008=)
c.8983C>T (p.Leu2995=)
c.8875C>T (p.Leu2959=)
c.8857C>T (p.Leu2953=)
c.5629C>T (p.Leu1877=)
c.3559C>T (p.Leu1187=)
c.8932C>T (p.Leu2978=)
c.8878C>T (p.Leu2960=)
c.8668C>T (p.Leu2890=)
c.8314C>T (p.Leu2772=)
c.6211C>T (p.Leu2071=)
n.9161C>T
c.8797C>T (p.Leu2933=)
c.7993C>T (p.Leu2665=)
c.7798C>T (p.Leu2600=)
n.9210C>T
 gnomAD v4
5g.37122461G>CCA359496881CPLANE1c.8986C>G (p.Leu2996Val)
n.847C>G
c.8824C>G (p.Leu2942Val)
c.5998C>G (n.5998C>G)
n.342-677C>G
c.6022C>G (p.Leu2008Val)
c.8983C>G (p.Leu2995Val)
c.8875C>G (p.Leu2959Val)
c.8857C>G (p.Leu2953Val)
c.5629C>G (p.Leu1877Val)
c.3559C>G (p.Leu1187Val)
c.8932C>G (p.Leu2978Val)
c.8878C>G (p.Leu2960Val)
c.8668C>G (p.Leu2890Val)
c.8314C>G (p.Leu2772Val)
c.6211C>G (p.Leu2071Val)
n.9161C>G
c.8797C>G (p.Leu2933Val)
c.7993C>G (p.Leu2665Val)
c.7798C>G (p.Leu2600Val)
n.9210C>G
5g.37122461G>TCA359496884CPLANE1c.8986C>A (p.Leu2996Met)
n.847C>A
c.8824C>A (p.Leu2942Met)
c.5998C>A (n.5998C>A)
n.342-677C>A
c.6022C>A (p.Leu2008Met)
c.8983C>A (p.Leu2995Met)
c.8875C>A (p.Leu2959Met)
c.8857C>A (p.Leu2953Met)
c.5629C>A (p.Leu1877Met)
c.3559C>A (p.Leu1187Met)
c.8932C>A (p.Leu2978Met)
c.8878C>A (p.Leu2960Met)
c.8668C>A (p.Leu2890Met)
c.8314C>A (p.Leu2772Met)
c.6211C>A (p.Leu2071Met)
n.9161C>A
c.8797C>A (p.Leu2933Met)
c.7993C>A (p.Leu2665Met)
c.7798C>A (p.Leu2600Met)
n.9210C>A
5g.37122462C>ACA117057251CPLANE1c.8985G>T (p.Arg2995Ser)
n.846G>T
c.8823G>T (p.Arg2941Ser)
c.5997G>T (n.5997G>T)
n.342-678G>T
c.6021G>T (p.Arg2007Ser)
c.8982G>T (p.Arg2994Ser)
c.8874G>T (p.Arg2958Ser)
c.8856G>T (p.Arg2952Ser)
c.5628G>T (p.Arg1876Ser)
c.3558G>T (p.Arg1186Ser)
c.8931G>T (p.Arg2977Ser)
c.8877G>T (p.Arg2959Ser)
c.8667G>T (p.Arg2889Ser)
c.8313G>T (p.Arg2771Ser)
c.6210G>T (p.Arg2070Ser)
n.9160G>T
c.8796G>T (p.Arg2932Ser)
c.7992G>T (p.Arg2664Ser)
c.7797G>T (p.Arg2599Ser)
n.9209G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37122462C=CA1539665370CPLANE1c.8985G= (p.Arg2995=)
n.846G=
c.8823G= (p.Arg2941=)
c.5997G= (n.5997G=)
n.342-678G=
c.6021G= (p.Arg2007=)
c.8982G= (p.Arg2994=)
c.8874G= (p.Arg2958=)
c.8856G= (p.Arg2952=)
c.5628G= (p.Arg1876=)
c.3558G= (p.Arg1186=)
c.8931G= (p.Arg2977=)
c.8877G= (p.Arg2959=)
c.8667G= (p.Arg2889=)
c.8313G= (p.Arg2771=)
c.6210G= (p.Arg2070=)
n.9160G=
c.8796G= (p.Arg2932=)
c.7992G= (p.Arg2664=)
c.7797G= (p.Arg2599=)
n.9209G=
5g.37122462C>GCA359496892CPLANE1c.8985G>C (p.Arg2995Ser)
n.846G>C
c.8823G>C (p.Arg2941Ser)
c.5997G>C (n.5997G>C)
n.342-678G>C
c.6021G>C (p.Arg2007Ser)
c.8982G>C (p.Arg2994Ser)
c.8874G>C (p.Arg2958Ser)
c.8856G>C (p.Arg2952Ser)
c.5628G>C (p.Arg1876Ser)
c.3558G>C (p.Arg1186Ser)
c.8931G>C (p.Arg2977Ser)
c.8877G>C (p.Arg2959Ser)
c.8667G>C (p.Arg2889Ser)
c.8313G>C (p.Arg2771Ser)
c.6210G>C (p.Arg2070Ser)
n.9160G>C
c.8796G>C (p.Arg2932Ser)
c.7992G>C (p.Arg2664Ser)
c.7797G>C (p.Arg2599Ser)
n.9209G>C
 gnomAD v4
5g.37122462C>TCA443921902CPLANE1c.8985G>A (p.Arg2995=)
n.846G>A
c.8823G>A (p.Arg2941=)
c.5997G>A (n.5997G>A)
n.342-678G>A
c.6021G>A (p.Arg2007=)
c.8982G>A (p.Arg2994=)
c.8874G>A (p.Arg2958=)
c.8856G>A (p.Arg2952=)
c.5628G>A (p.Arg1876=)
c.3558G>A (p.Arg1186=)
c.8931G>A (p.Arg2977=)
c.8877G>A (p.Arg2959=)
c.8667G>A (p.Arg2889=)
c.8313G>A (p.Arg2771=)
c.6210G>A (p.Arg2070=)
n.9160G>A
c.8796G>A (p.Arg2932=)
c.7992G>A (p.Arg2664=)
c.7797G>A (p.Arg2599=)
n.9209G>A
5g.37122463C>ACA359496901CPLANE1c.8984G>T (p.Arg2995Met)
n.845G>T
c.8822G>T (p.Arg2941Met)
c.5996G>T (n.5996G>T)
n.342-679G>T
c.6020G>T (p.Arg2007Met)
c.8981G>T (p.Arg2994Met)
c.8873G>T (p.Arg2958Met)
c.8855G>T (p.Arg2952Met)
c.5627G>T (p.Arg1876Met)
c.3557G>T (p.Arg1186Met)
c.8930G>T (p.Arg2977Met)
c.8876G>T (p.Arg2959Met)
c.8666G>T (p.Arg2889Met)
c.8312G>T (p.Arg2771Met)
c.6209G>T (p.Arg2070Met)
n.9159G>T
c.8795G>T (p.Arg2932Met)
c.7991G>T (p.Arg2664Met)
c.7796G>T (p.Arg2599Met)
n.9208G>T
5g.37122463C=CA1539665372CPLANE1c.8984G= (p.Arg2995=)
n.845G=
c.8822G= (p.Arg2941=)
c.5996G= (n.5996G=)
n.342-679G=
c.6020G= (p.Arg2007=)
c.8981G= (p.Arg2994=)
c.8873G= (p.Arg2958=)
c.8855G= (p.Arg2952=)
c.5627G= (p.Arg1876=)
c.3557G= (p.Arg1186=)
c.8930G= (p.Arg2977=)
c.8876G= (p.Arg2959=)
c.8666G= (p.Arg2889=)
c.8312G= (p.Arg2771=)
c.6209G= (p.Arg2070=)
n.9159G=
c.8795G= (p.Arg2932=)
c.7991G= (p.Arg2664=)
c.7796G= (p.Arg2599=)
n.9208G=
5g.37122463C>GCA359496898CPLANE1c.8984G>C (p.Arg2995Thr)
n.845G>C
c.8822G>C (p.Arg2941Thr)
c.5996G>C (n.5996G>C)
n.342-679G>C
c.6020G>C (p.Arg2007Thr)
c.8981G>C (p.Arg2994Thr)
c.8873G>C (p.Arg2958Thr)
c.8855G>C (p.Arg2952Thr)
c.5627G>C (p.Arg1876Thr)
c.3557G>C (p.Arg1186Thr)
c.8930G>C (p.Arg2977Thr)
c.8876G>C (p.Arg2959Thr)
c.8666G>C (p.Arg2889Thr)
c.8312G>C (p.Arg2771Thr)
c.6209G>C (p.Arg2070Thr)
n.9159G>C
c.8795G>C (p.Arg2932Thr)
c.7991G>C (p.Arg2664Thr)
c.7796G>C (p.Arg2599Thr)
n.9208G>C
 dbSNP gnomAD v2 gnomAD v4
5g.37122463C>TCA359496894CPLANE1c.8984G>A (p.Arg2995Lys)
n.845G>A
c.8822G>A (p.Arg2941Lys)
c.5996G>A (n.5996G>A)
n.342-679G>A
c.6020G>A (p.Arg2007Lys)
c.8981G>A (p.Arg2994Lys)
c.8873G>A (p.Arg2958Lys)
c.8855G>A (p.Arg2952Lys)
c.5627G>A (p.Arg1876Lys)
c.3557G>A (p.Arg1186Lys)
c.8930G>A (p.Arg2977Lys)
c.8876G>A (p.Arg2959Lys)
c.8666G>A (p.Arg2889Lys)
c.8312G>A (p.Arg2771Lys)
c.6209G>A (p.Arg2070Lys)
n.9159G>A
c.8795G>A (p.Arg2932Lys)
c.7991G>A (p.Arg2664Lys)
c.7796G>A (p.Arg2599Lys)
n.9208G>A
5g.37122464T>ACA359496918CPLANE1c.8983A>T (p.Arg2995Trp)
n.844A>T
c.8821A>T (p.Arg2941Trp)
c.5995A>T (n.5995A>T)
n.342-680A>T
c.6019A>T (p.Arg2007Trp)
c.8980A>T (p.Arg2994Trp)
c.8872A>T (p.Arg2958Trp)
c.8854A>T (p.Arg2952Trp)
c.5626A>T (p.Arg1876Trp)
c.3556A>T (p.Arg1186Trp)
c.8929A>T (p.Arg2977Trp)
c.8875A>T (p.Arg2959Trp)
c.8665A>T (p.Arg2889Trp)
c.8311A>T (p.Arg2771Trp)
c.6208A>T (p.Arg2070Trp)
n.9158A>T
c.8794A>T (p.Arg2932Trp)
c.7990A>T (p.Arg2664Trp)
c.7795A>T (p.Arg2599Trp)
n.9207A>T
5g.37122464T>CCA359496922CPLANE1c.8983A>G (p.Arg2995Gly)
n.844A>G
c.8821A>G (p.Arg2941Gly)
c.5995A>G (n.5995A>G)
n.342-680A>G
c.6019A>G (p.Arg2007Gly)
c.8980A>G (p.Arg2994Gly)
c.8872A>G (p.Arg2958Gly)
c.8854A>G (p.Arg2952Gly)
c.5626A>G (p.Arg1876Gly)
c.3556A>G (p.Arg1186Gly)
c.8929A>G (p.Arg2977Gly)
c.8875A>G (p.Arg2959Gly)
c.8665A>G (p.Arg2889Gly)
c.8311A>G (p.Arg2771Gly)
c.6208A>G (p.Arg2070Gly)
n.9158A>G
c.8794A>G (p.Arg2932Gly)
c.7990A>G (p.Arg2664Gly)
c.7795A>G (p.Arg2599Gly)
n.9207A>G
5g.37122464T>GCA443921903CPLANE1c.8983A>C (p.Arg2995=)
n.844A>C
c.8821A>C (p.Arg2941=)
c.5995A>C (n.5995A>C)
n.342-680A>C
c.6019A>C (p.Arg2007=)
c.8980A>C (p.Arg2994=)
c.8872A>C (p.Arg2958=)
c.8854A>C (p.Arg2952=)
c.5626A>C (p.Arg1876=)
c.3556A>C (p.Arg1186=)
c.8929A>C (p.Arg2977=)
c.8875A>C (p.Arg2959=)
c.8665A>C (p.Arg2889=)
c.8311A>C (p.Arg2771=)
c.6208A>C (p.Arg2070=)
n.9158A>C
c.8794A>C (p.Arg2932=)
c.7990A>C (p.Arg2664=)
c.7795A>C (p.Arg2599=)
n.9207A>C
5g.37122465T>ACA443921904CPLANE1c.8982A>T (p.Ile2994=)
n.843A>T
c.8820A>T (p.Ile2940=)
c.5994A>T (n.5994A>T)
n.342-681A>T
c.6018A>T (p.Ile2006=)
c.8979A>T (p.Ile2993=)
c.8871A>T (p.Ile2957=)
c.8853A>T (p.Ile2951=)
c.5625A>T (p.Ile1875=)
c.3555A>T (p.Ile1185=)
c.8928A>T (p.Ile2976=)
c.8874A>T (p.Ile2958=)
c.8664A>T (p.Ile2888=)
c.8310A>T (p.Ile2770=)
c.6207A>T (p.Ile2069=)
n.9157A>T
c.8793A>T (p.Ile2931=)
c.7989A>T (p.Ile2663=)
c.7794A>T (p.Ile2598=)
n.9206A>T
5g.37122465T>CCA359496926CPLANE1c.8982A>G (p.Ile2994Met)
n.843A>G
c.8820A>G (p.Ile2940Met)
c.5994A>G (n.5994A>G)
n.342-681A>G
c.6018A>G (p.Ile2006Met)
c.8979A>G (p.Ile2993Met)
c.8871A>G (p.Ile2957Met)
c.8853A>G (p.Ile2951Met)
c.5625A>G (p.Ile1875Met)
c.3555A>G (p.Ile1185Met)
c.8928A>G (p.Ile2976Met)
c.8874A>G (p.Ile2958Met)
c.8664A>G (p.Ile2888Met)
c.8310A>G (p.Ile2770Met)
c.6207A>G (p.Ile2069Met)
n.9157A>G
c.8793A>G (p.Ile2931Met)
c.7989A>G (p.Ile2663Met)
c.7794A>G (p.Ile2598Met)
n.9206A>G
5g.37122465T>GCA443921905CPLANE1c.8982A>C (p.Ile2994=)
n.843A>C
c.8820A>C (p.Ile2940=)
c.5994A>C (n.5994A>C)
n.342-681A>C
c.6018A>C (p.Ile2006=)
c.8979A>C (p.Ile2993=)
c.8871A>C (p.Ile2957=)
c.8853A>C (p.Ile2951=)
c.5625A>C (p.Ile1875=)
c.3555A>C (p.Ile1185=)
c.8928A>C (p.Ile2976=)
c.8874A>C (p.Ile2958=)
c.8664A>C (p.Ile2888=)
c.8310A>C (p.Ile2770=)
c.6207A>C (p.Ile2069=)
n.9157A>C
c.8793A>C (p.Ile2931=)
c.7989A>C (p.Ile2663=)
c.7794A>C (p.Ile2598=)
n.9206A>C
5g.37122466A=CA1539665373CPLANE1c.8981T= (p.Ile2994=)
n.842T=
c.8819T= (p.Ile2940=)
c.5993T= (n.5993T=)
n.342-682T=
c.6017T= (p.Ile2006=)
c.8978T= (p.Ile2993=)
c.8870T= (p.Ile2957=)
c.8852T= (p.Ile2951=)
c.5624T= (p.Ile1875=)
c.3554T= (p.Ile1185=)
c.8927T= (p.Ile2976=)
c.8873T= (p.Ile2958=)
c.8663T= (p.Ile2888=)
c.8309T= (p.Ile2770=)
c.6206T= (p.Ile2069=)
n.9156T=
c.8792T= (p.Ile2931=)
c.7988T= (p.Ile2663=)
c.7793T= (p.Ile2598=)
n.9205T=
5g.37122466A>CCA359496933CPLANE1c.8981T>G (p.Ile2994Arg)
n.842T>G
c.8819T>G (p.Ile2940Arg)
c.5993T>G (n.5993T>G)
n.342-682T>G
c.6017T>G (p.Ile2006Arg)
c.8978T>G (p.Ile2993Arg)
c.8870T>G (p.Ile2957Arg)
c.8852T>G (p.Ile2951Arg)
c.5624T>G (p.Ile1875Arg)
c.3554T>G (p.Ile1185Arg)
c.8927T>G (p.Ile2976Arg)
c.8873T>G (p.Ile2958Arg)
c.8663T>G (p.Ile2888Arg)
c.8309T>G (p.Ile2770Arg)
c.6206T>G (p.Ile2069Arg)
n.9156T>G
c.8792T>G (p.Ile2931Arg)
c.7988T>G (p.Ile2663Arg)
c.7793T>G (p.Ile2598Arg)
n.9205T>G
5g.37122466A>GCA3237603CPLANE1c.8981T>C (p.Ile2994Thr)
n.842T>C
c.8819T>C (p.Ile2940Thr)
c.5993T>C (n.5993T>C)
n.342-682T>C
c.6017T>C (p.Ile2006Thr)
c.8978T>C (p.Ile2993Thr)
c.8870T>C (p.Ile2957Thr)
c.8852T>C (p.Ile2951Thr)
c.5624T>C (p.Ile1875Thr)
c.3554T>C (p.Ile1185Thr)
c.8927T>C (p.Ile2976Thr)
c.8873T>C (p.Ile2958Thr)
c.8663T>C (p.Ile2888Thr)
c.8309T>C (p.Ile2770Thr)
c.6206T>C (p.Ile2069Thr)
n.9156T>C
c.8792T>C (p.Ile2931Thr)
c.7988T>C (p.Ile2663Thr)
c.7793T>C (p.Ile2598Thr)
n.9205T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.37122466A>TCA359496937CPLANE1c.8981T>A (p.Ile2994Lys)
n.842T>A
c.8819T>A (p.Ile2940Lys)
c.5993T>A (n.5993T>A)
n.342-682T>A
c.6017T>A (p.Ile2006Lys)
c.8978T>A (p.Ile2993Lys)
c.8870T>A (p.Ile2957Lys)
c.8852T>A (p.Ile2951Lys)
c.5624T>A (p.Ile1875Lys)
c.3554T>A (p.Ile1185Lys)
c.8927T>A (p.Ile2976Lys)
c.8873T>A (p.Ile2958Lys)
c.8663T>A (p.Ile2888Lys)
c.8309T>A (p.Ile2770Lys)
c.6206T>A (p.Ile2069Lys)
n.9156T>A
c.8792T>A (p.Ile2931Lys)
c.7988T>A (p.Ile2663Lys)
c.7793T>A (p.Ile2598Lys)
n.9205T>A
5g.37122467T>ACA359496956CPLANE1c.8980A>T (p.Ile2994Leu)
n.841A>T
c.8818A>T (p.Ile2940Leu)
c.5992A>T (n.5992A>T)
n.342-683A>T
c.6016A>T (p.Ile2006Leu)
c.8977A>T (p.Ile2993Leu)
c.8869A>T (p.Ile2957Leu)
c.8851A>T (p.Ile2951Leu)
c.5623A>T (p.Ile1875Leu)
c.3553A>T (p.Ile1185Leu)
c.8926A>T (p.Ile2976Leu)
c.8872A>T (p.Ile2958Leu)
c.8662A>T (p.Ile2888Leu)
c.8308A>T (p.Ile2770Leu)
c.6205A>T (p.Ile2069Leu)
n.9155A>T
c.8791A>T (p.Ile2931Leu)
c.7987A>T (p.Ile2663Leu)
c.7792A>T (p.Ile2598Leu)
n.9204A>T
5g.37122467T>CCA359496940CPLANE1c.8980A>G (p.Ile2994Val)
n.841A>G
c.8818A>G (p.Ile2940Val)
c.5992A>G (n.5992A>G)
n.342-683A>G
c.6016A>G (p.Ile2006Val)
c.8977A>G (p.Ile2993Val)
c.8869A>G (p.Ile2957Val)
c.8851A>G (p.Ile2951Val)
c.5623A>G (p.Ile1875Val)
c.3553A>G (p.Ile1185Val)
c.8926A>G (p.Ile2976Val)
c.8872A>G (p.Ile2958Val)
c.8662A>G (p.Ile2888Val)
c.8308A>G (p.Ile2770Val)
c.6205A>G (p.Ile2069Val)
n.9155A>G
c.8791A>G (p.Ile2931Val)
c.7987A>G (p.Ile2663Val)
c.7792A>G (p.Ile2598Val)
n.9204A>G
 gnomAD v4
5g.37122467T>GCA359496953CPLANE1c.8980A>C (p.Ile2994Leu)
n.841A>C
c.8818A>C (p.Ile2940Leu)
c.5992A>C (n.5992A>C)
n.342-683A>C
c.6016A>C (p.Ile2006Leu)
c.8977A>C (p.Ile2993Leu)
c.8869A>C (p.Ile2957Leu)
c.8851A>C (p.Ile2951Leu)
c.5623A>C (p.Ile1875Leu)
c.3553A>C (p.Ile1185Leu)
c.8926A>C (p.Ile2976Leu)
c.8872A>C (p.Ile2958Leu)
c.8662A>C (p.Ile2888Leu)
c.8308A>C (p.Ile2770Leu)
c.6205A>C (p.Ile2069Leu)
n.9155A>C
c.8791A>C (p.Ile2931Leu)
c.7987A>C (p.Ile2663Leu)
c.7792A>C (p.Ile2598Leu)
n.9204A>C
5g.37122469delCA2578290230CPLANE1c.8980del (p.Ile2994Ter)
n.841del
c.8818del (p.Ile2940Ter)
c.5992del (n.5992del)
n.342-683del
c.6016del (p.Ile2006Ter)
c.8977del (p.Ile2993Ter)
c.8869del (p.Ile2957Ter)
c.8851del (p.Ile2951Ter)
c.5623del (p.Ile1875Ter)
c.3553del (p.Ile1185Ter)
c.8926del (p.Ile2976Ter)
c.8872del (p.Ile2958Ter)
c.8662del (p.Ile2888Ter)
c.8308del (p.Ile2770Ter)
c.6205del (p.Ile2069Ter)
n.9155del
c.8791del (p.Ile2931Ter)
c.7987del (p.Ile2663Ter)
c.7792del (p.Ile2598Ter)
n.9204del
 ClinVar gnomAD v4
5g.37122468T>ACA359496962CPLANE1c.8979A>T (p.Glu2993Asp)
n.840A>T
c.8817A>T (p.Glu2939Asp)
c.5991A>T (n.5991A>T)
n.342-684A>T
c.6015A>T (p.Glu2005Asp)
c.8976A>T (p.Glu2992Asp)
c.8868A>T (p.Glu2956Asp)
c.8850A>T (p.Glu2950Asp)
c.5622A>T (p.Glu1874Asp)
c.3552A>T (p.Glu1184Asp)
c.8925A>T (p.Glu2975Asp)
c.8871A>T (p.Glu2957Asp)
c.8661A>T (p.Glu2887Asp)
c.8307A>T (p.Glu2769Asp)
c.6204A>T (p.Glu2068Asp)
n.9154A>T
c.8790A>T (p.Glu2930Asp)
c.7986A>T (p.Glu2662Asp)
c.7791A>T (p.Glu2597Asp)
n.9203A>T
5g.37122468T>CCA443921906CPLANE1c.8979A>G (p.Glu2993=)
n.840A>G
c.8817A>G (p.Glu2939=)
c.5991A>G (n.5991A>G)
n.342-684A>G
c.6015A>G (p.Glu2005=)
c.8976A>G (p.Glu2992=)
c.8868A>G (p.Glu2956=)
c.8850A>G (p.Glu2950=)
c.5622A>G (p.Glu1874=)
c.3552A>G (p.Glu1184=)
c.8925A>G (p.Glu2975=)
c.8871A>G (p.Glu2957=)
c.8661A>G (p.Glu2887=)
c.8307A>G (p.Glu2769=)
c.6204A>G (p.Glu2068=)
n.9154A>G
c.8790A>G (p.Glu2930=)
c.7986A>G (p.Glu2662=)
c.7791A>G (p.Glu2597=)
n.9203A>G
5g.37122468T>GCA359496967CPLANE1c.8979A>C (p.Glu2993Asp)
n.840A>C
c.8817A>C (p.Glu2939Asp)
c.5991A>C (n.5991A>C)
n.342-684A>C
c.6015A>C (p.Glu2005Asp)
c.8976A>C (p.Glu2992Asp)
c.8868A>C (p.Glu2956Asp)
c.8850A>C (p.Glu2950Asp)
c.5622A>C (p.Glu1874Asp)
c.3552A>C (p.Glu1184Asp)
c.8925A>C (p.Glu2975Asp)
c.8871A>C (p.Glu2957Asp)
c.8661A>C (p.Glu2887Asp)
c.8307A>C (p.Glu2769Asp)
c.6204A>C (p.Glu2068Asp)
n.9154A>C
c.8790A>C (p.Glu2930Asp)
c.7986A>C (p.Glu2662Asp)
c.7791A>C (p.Glu2597Asp)
n.9203A>C
5g.37122469T>ACA359496970CPLANE1c.8978A>T (p.Glu2993Val)
n.839A>T
c.8816A>T (p.Glu2939Val)
c.5990A>T (n.5990A>T)
n.342-685A>T
c.6014A>T (p.Glu2005Val)
c.8975A>T (p.Glu2992Val)
c.8867A>T (p.Glu2956Val)
c.8849A>T (p.Glu2950Val)
c.5621A>T (p.Glu1874Val)
c.3551A>T (p.Glu1184Val)
c.8924A>T (p.Glu2975Val)
c.8870A>T (p.Glu2957Val)
c.8660A>T (p.Glu2887Val)
c.8306A>T (p.Glu2769Val)
c.6203A>T (p.Glu2068Val)
n.9153A>T
c.8789A>T (p.Glu2930Val)
c.7985A>T (p.Glu2662Val)
c.7790A>T (p.Glu2597Val)
n.9202A>T
5g.37122469T>CCA359496981CPLANE1c.8978A>G (p.Glu2993Gly)
n.839A>G
c.8816A>G (p.Glu2939Gly)
c.5990A>G (n.5990A>G)
n.342-685A>G
c.6014A>G (p.Glu2005Gly)
c.8975A>G (p.Glu2992Gly)
c.8867A>G (p.Glu2956Gly)
c.8849A>G (p.Glu2950Gly)
c.5621A>G (p.Glu1874Gly)
c.3551A>G (p.Glu1184Gly)
c.8924A>G (p.Glu2975Gly)
c.8870A>G (p.Glu2957Gly)
c.8660A>G (p.Glu2887Gly)
c.8306A>G (p.Glu2769Gly)
c.6203A>G (p.Glu2068Gly)
n.9153A>G
c.8789A>G (p.Glu2930Gly)
c.7985A>G (p.Glu2662Gly)
c.7790A>G (p.Glu2597Gly)
n.9202A>G
 ClinVar dbSNP
5g.37122469T>GCA359496986CPLANE1c.8978A>C (p.Glu2993Ala)
n.839A>C
c.8816A>C (p.Glu2939Ala)
c.5990A>C (n.5990A>C)
n.342-685A>C
c.6014A>C (p.Glu2005Ala)
c.8975A>C (p.Glu2992Ala)
c.8867A>C (p.Glu2956Ala)
c.8849A>C (p.Glu2950Ala)
c.5621A>C (p.Glu1874Ala)
c.3551A>C (p.Glu1184Ala)
c.8924A>C (p.Glu2975Ala)
c.8870A>C (p.Glu2957Ala)
c.8660A>C (p.Glu2887Ala)
c.8306A>C (p.Glu2769Ala)
c.6203A>C (p.Glu2068Ala)
n.9153A>C
c.8789A>C (p.Glu2930Ala)
c.7985A>C (p.Glu2662Ala)
c.7790A>C (p.Glu2597Ala)
n.9202A>C
5g.37122470C>ACA359496995CPLANE1c.8977G>T (p.Glu2993Ter)
n.838G>T
c.8815G>T (p.Glu2939Ter)
c.5989G>T (n.5989G>T)
n.342-686G>T
c.6013G>T (p.Glu2005Ter)
c.8974G>T (p.Glu2992Ter)
c.8866G>T (p.Glu2956Ter)
c.8848G>T (p.Glu2950Ter)
c.5620G>T (p.Glu1874Ter)
c.3550G>T (p.Glu1184Ter)
c.8923G>T (p.Glu2975Ter)
c.8869G>T (p.Glu2957Ter)
c.8659G>T (p.Glu2887Ter)
c.8305G>T (p.Glu2769Ter)
c.6202G>T (p.Glu2068Ter)
n.9152G>T
c.8788G>T (p.Glu2930Ter)
c.7984G>T (p.Glu2662Ter)
c.7789G>T (p.Glu2597Ter)
n.9201G>T
5g.37122470C>GCA359497003CPLANE1c.8977G>C (p.Glu2993Gln)
n.838G>C
c.8815G>C (p.Glu2939Gln)
c.5989G>C (n.5989G>C)
n.342-686G>C
c.6013G>C (p.Glu2005Gln)
c.8974G>C (p.Glu2992Gln)
c.8866G>C (p.Glu2956Gln)
c.8848G>C (p.Glu2950Gln)
c.5620G>C (p.Glu1874Gln)
c.3550G>C (p.Glu1184Gln)
c.8923G>C (p.Glu2975Gln)
c.8869G>C (p.Glu2957Gln)
c.8659G>C (p.Glu2887Gln)
c.8305G>C (p.Glu2769Gln)
c.6202G>C (p.Glu2068Gln)
n.9152G>C
c.8788G>C (p.Glu2930Gln)
c.7984G>C (p.Glu2662Gln)
c.7789G>C (p.Glu2597Gln)
n.9201G>C
5g.37122470C>TCA359496997CPLANE1c.8977G>A (p.Glu2993Lys)
n.838G>A
c.8815G>A (p.Glu2939Lys)
c.5989G>A (n.5989G>A)
n.342-686G>A
c.6013G>A (p.Glu2005Lys)
c.8974G>A (p.Glu2992Lys)
c.8866G>A (p.Glu2956Lys)
c.8848G>A (p.Glu2950Lys)
c.5620G>A (p.Glu1874Lys)
c.3550G>A (p.Glu1184Lys)
c.8923G>A (p.Glu2975Lys)
c.8869G>A (p.Glu2957Lys)
c.8659G>A (p.Glu2887Lys)
c.8305G>A (p.Glu2769Lys)
c.6202G>A (p.Glu2068Lys)
n.9152G>A
c.8788G>A (p.Glu2930Lys)
c.7984G>A (p.Glu2662Lys)
c.7789G>A (p.Glu2597Lys)
n.9201G>A
5g.37122471C>ACA359497008CPLANE1c.8976G>T (p.Arg2992Ser)
n.837G>T
c.8814G>T (p.Arg2938Ser)
c.5988G>T (n.5988G>T)
n.342-687G>T
c.6012G>T (p.Arg2004Ser)
c.8973G>T (p.Arg2991Ser)
c.8865G>T (p.Arg2955Ser)
c.8847G>T (p.Arg2949Ser)
c.5619G>T (p.Arg1873Ser)
c.3549G>T (p.Arg1183Ser)
c.8922G>T (p.Arg2974Ser)
c.8868G>T (p.Arg2956Ser)
c.8658G>T (p.Arg2886Ser)
c.8304G>T (p.Arg2768Ser)
c.6201G>T (p.Arg2067Ser)
n.9151G>T
c.8787G>T (p.Arg2929Ser)
c.7983G>T (p.Arg2661Ser)
c.7788G>T (p.Arg2596Ser)
n.9200G>T
5g.37122471C=CA1539665375CPLANE1c.8976G= (p.Arg2992=)
n.837G=
c.8814G= (p.Arg2938=)
c.5988G= (n.5988G=)
n.342-687G=
c.6012G= (p.Arg2004=)
c.8973G= (p.Arg2991=)
c.8865G= (p.Arg2955=)
c.8847G= (p.Arg2949=)
c.5619G= (p.Arg1873=)
c.3549G= (p.Arg1183=)
c.8922G= (p.Arg2974=)
c.8868G= (p.Arg2956=)
c.8658G= (p.Arg2886=)
c.8304G= (p.Arg2768=)
c.6201G= (p.Arg2067=)
n.9151G=
c.8787G= (p.Arg2929=)
c.7983G= (p.Arg2661=)
c.7788G= (p.Arg2596=)
n.9200G=
5g.37122471C>GCA359497010CPLANE1c.8976G>C (p.Arg2992Ser)
n.837G>C
c.8814G>C (p.Arg2938Ser)
c.5988G>C (n.5988G>C)
n.342-687G>C
c.6012G>C (p.Arg2004Ser)
c.8973G>C (p.Arg2991Ser)
c.8865G>C (p.Arg2955Ser)
c.8847G>C (p.Arg2949Ser)
c.5619G>C (p.Arg1873Ser)
c.3549G>C (p.Arg1183Ser)
c.8922G>C (p.Arg2974Ser)
c.8868G>C (p.Arg2956Ser)
c.8658G>C (p.Arg2886Ser)
c.8304G>C (p.Arg2768Ser)
c.6201G>C (p.Arg2067Ser)
n.9151G>C
c.8787G>C (p.Arg2929Ser)
c.7983G>C (p.Arg2661Ser)
c.7788G>C (p.Arg2596Ser)
n.9200G>C
5g.37122471C>TCA3237604CPLANE1c.8976G>A (p.Arg2992=)
n.837G>A
c.8814G>A (p.Arg2938=)
c.5988G>A (n.5988G>A)
n.342-687G>A
c.6012G>A (p.Arg2004=)
c.8973G>A (p.Arg2991=)
c.8865G>A (p.Arg2955=)
c.8847G>A (p.Arg2949=)
c.5619G>A (p.Arg1873=)
c.3549G>A (p.Arg1183=)
c.8922G>A (p.Arg2974=)
c.8868G>A (p.Arg2956=)
c.8658G>A (p.Arg2886=)
c.8304G>A (p.Arg2768=)
c.6201G>A (p.Arg2067=)
n.9151G>A
c.8787G>A (p.Arg2929=)
c.7983G>A (p.Arg2661=)
c.7788G>A (p.Arg2596=)
n.9200G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37122472C>ACA359497018CPLANE1c.8975G>T (p.Arg2992Met)
n.836G>T
c.8813G>T (p.Arg2938Met)
c.5987G>T (n.5987G>T)
n.342-688G>T
c.6011G>T (p.Arg2004Met)
c.8972G>T (p.Arg2991Met)
c.8864G>T (p.Arg2955Met)
c.8846G>T (p.Arg2949Met)
c.5618G>T (p.Arg1873Met)
c.3548G>T (p.Arg1183Met)
c.8921G>T (p.Arg2974Met)
c.8867G>T (p.Arg2956Met)
c.8657G>T (p.Arg2886Met)
c.8303G>T (p.Arg2768Met)
c.6200G>T (p.Arg2067Met)
n.9150G>T
c.8786G>T (p.Arg2929Met)
c.7982G>T (p.Arg2661Met)
c.7787G>T (p.Arg2596Met)
n.9199G>T
5g.37122472C=CA1539665378CPLANE1c.8975G= (p.Arg2992=)
n.836G=
c.8813G= (p.Arg2938=)
c.5987G= (n.5987G=)
n.342-688G=
c.6011G= (p.Arg2004=)
c.8972G= (p.Arg2991=)
c.8864G= (p.Arg2955=)
c.8846G= (p.Arg2949=)
c.5618G= (p.Arg1873=)
c.3548G= (p.Arg1183=)
c.8921G= (p.Arg2974=)
c.8867G= (p.Arg2956=)
c.8657G= (p.Arg2886=)
c.8303G= (p.Arg2768=)
c.6200G= (p.Arg2067=)
n.9150G=
c.8786G= (p.Arg2929=)
c.7982G= (p.Arg2661=)
c.7787G= (p.Arg2596=)
n.9199G=
5g.37122472C>GCA359497021CPLANE1c.8975G>C (p.Arg2992Thr)
n.836G>C
c.8813G>C (p.Arg2938Thr)
c.5987G>C (n.5987G>C)
n.342-688G>C
c.6011G>C (p.Arg2004Thr)
c.8972G>C (p.Arg2991Thr)
c.8864G>C (p.Arg2955Thr)
c.8846G>C (p.Arg2949Thr)
c.5618G>C (p.Arg1873Thr)
c.3548G>C (p.Arg1183Thr)
c.8921G>C (p.Arg2974Thr)
c.8867G>C (p.Arg2956Thr)
c.8657G>C (p.Arg2886Thr)
c.8303G>C (p.Arg2768Thr)
c.6200G>C (p.Arg2067Thr)
n.9150G>C
c.8786G>C (p.Arg2929Thr)
c.7982G>C (p.Arg2661Thr)
c.7787G>C (p.Arg2596Thr)
n.9199G>C
5g.37122472C>TCA359497022CPLANE1c.8975G>A (p.Arg2992Lys)
n.836G>A
c.8813G>A (p.Arg2938Lys)
c.5987G>A (n.5987G>A)
n.342-688G>A
c.6011G>A (p.Arg2004Lys)
c.8972G>A (p.Arg2991Lys)
c.8864G>A (p.Arg2955Lys)
c.8846G>A (p.Arg2949Lys)
c.5618G>A (p.Arg1873Lys)
c.3548G>A (p.Arg1183Lys)
c.8921G>A (p.Arg2974Lys)
c.8867G>A (p.Arg2956Lys)
c.8657G>A (p.Arg2886Lys)
c.8303G>A (p.Arg2768Lys)
c.6200G>A (p.Arg2067Lys)
n.9150G>A
c.8786G>A (p.Arg2929Lys)
c.7982G>A (p.Arg2661Lys)
c.7787G>A (p.Arg2596Lys)
n.9199G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.37122473T>ACA359497023CPLANE1c.8974A>T (p.Arg2992Trp)
n.835A>T
c.8812A>T (p.Arg2938Trp)
c.5986A>T (n.5986A>T)
n.342-689A>T
c.6010A>T (p.Arg2004Trp)
c.8971A>T (p.Arg2991Trp)
c.8863A>T (p.Arg2955Trp)
c.8845A>T (p.Arg2949Trp)
c.5617A>T (p.Arg1873Trp)
c.3547A>T (p.Arg1183Trp)
c.8920A>T (p.Arg2974Trp)
c.8866A>T (p.Arg2956Trp)
c.8656A>T (p.Arg2886Trp)
c.8302A>T (p.Arg2768Trp)
c.6199A>T (p.Arg2067Trp)
n.9149A>T
c.8785A>T (p.Arg2929Trp)
c.7981A>T (p.Arg2661Trp)
c.7786A>T (p.Arg2596Trp)
n.9198A>T
5g.37122473T>CCA359497024CPLANE1c.8974A>G (p.Arg2992Gly)
n.835A>G
c.8812A>G (p.Arg2938Gly)
c.5986A>G (n.5986A>G)
n.342-689A>G
c.6010A>G (p.Arg2004Gly)
c.8971A>G (p.Arg2991Gly)
c.8863A>G (p.Arg2955Gly)
c.8845A>G (p.Arg2949Gly)
c.5617A>G (p.Arg1873Gly)
c.3547A>G (p.Arg1183Gly)
c.8920A>G (p.Arg2974Gly)
c.8866A>G (p.Arg2956Gly)
c.8656A>G (p.Arg2886Gly)
c.8302A>G (p.Arg2768Gly)
c.6199A>G (p.Arg2067Gly)
n.9149A>G
c.8785A>G (p.Arg2929Gly)
c.7981A>G (p.Arg2661Gly)
c.7786A>G (p.Arg2596Gly)
n.9198A>G
 dbSNP gnomAD v2
5g.37122473T>GCA443921907CPLANE1c.8974A>C (p.Arg2992=)
n.835A>C
c.8812A>C (p.Arg2938=)
c.5986A>C (n.5986A>C)
n.342-689A>C
c.6010A>C (p.Arg2004=)
c.8971A>C (p.Arg2991=)
c.8863A>C (p.Arg2955=)
c.8845A>C (p.Arg2949=)
c.5617A>C (p.Arg1873=)
c.3547A>C (p.Arg1183=)
c.8920A>C (p.Arg2974=)
c.8866A>C (p.Arg2956=)
c.8656A>C (p.Arg2886=)
c.8302A>C (p.Arg2768=)
c.6199A>C (p.Arg2067=)
n.9149A>C
c.8785A>C (p.Arg2929=)
c.7981A>C (p.Arg2661=)
c.7786A>C (p.Arg2596=)
n.9198A>C
5g.37122473T=CA1539665380CPLANE1c.8974A= (p.Arg2992=)
n.835A=
c.8812A= (p.Arg2938=)
c.5986A= (n.5986A=)
n.342-689A=
c.6010A= (p.Arg2004=)
c.8971A= (p.Arg2991=)
c.8863A= (p.Arg2955=)
c.8845A= (p.Arg2949=)
c.5617A= (p.Arg1873=)
c.3547A= (p.Arg1183=)
c.8920A= (p.Arg2974=)
c.8866A= (p.Arg2956=)
c.8656A= (p.Arg2886=)
c.8302A= (p.Arg2768=)
c.6199A= (p.Arg2067=)
n.9149A=
c.8785A= (p.Arg2929=)
c.7981A= (p.Arg2661=)
c.7786A= (p.Arg2596=)
n.9198A=
5g.37122474T>ACA443921908CPLANE1c.8973A>T (p.Ser2991=)
n.834A>T
c.8811A>T (p.Ser2937=)
c.5985A>T (n.5985A>T)
n.342-690A>T
c.6009A>T (p.Ser2003=)
c.8970A>T (p.Ser2990=)
c.8862A>T (p.Ser2954=)
c.8844A>T (p.Ser2948=)
c.5616A>T (p.Ser1872=)
c.3546A>T (p.Ser1182=)
c.8919A>T (p.Ser2973=)
c.8865A>T (p.Ser2955=)
c.8655A>T (p.Ser2885=)
c.8301A>T (p.Ser2767=)
c.6198A>T (p.Ser2066=)
n.9148A>T
c.8784A>T (p.Ser2928=)
c.7980A>T (p.Ser2660=)
c.7785A>T (p.Ser2595=)
n.9197A>T
5g.37122474T>CCA443921909CPLANE1c.8973A>G (p.Ser2991=)
n.834A>G
c.8811A>G (p.Ser2937=)
c.5985A>G (n.5985A>G)
n.342-690A>G
c.6009A>G (p.Ser2003=)
c.8970A>G (p.Ser2990=)
c.8862A>G (p.Ser2954=)
c.8844A>G (p.Ser2948=)
c.5616A>G (p.Ser1872=)
c.3546A>G (p.Ser1182=)
c.8919A>G (p.Ser2973=)
c.8865A>G (p.Ser2955=)
c.8655A>G (p.Ser2885=)
c.8301A>G (p.Ser2767=)
c.6198A>G (p.Ser2066=)
n.9148A>G
c.8784A>G (p.Ser2928=)
c.7980A>G (p.Ser2660=)
c.7785A>G (p.Ser2595=)
n.9197A>G
 gnomAD v4
5g.37122474T>GCA443921910CPLANE1c.8973A>C (p.Ser2991=)
n.834A>C
c.8811A>C (p.Ser2937=)
c.5985A>C (n.5985A>C)
n.342-690A>C
c.6009A>C (p.Ser2003=)
c.8970A>C (p.Ser2990=)
c.8862A>C (p.Ser2954=)
c.8844A>C (p.Ser2948=)
c.5616A>C (p.Ser1872=)
c.3546A>C (p.Ser1182=)
c.8919A>C (p.Ser2973=)
c.8865A>C (p.Ser2955=)
c.8655A>C (p.Ser2885=)
c.8301A>C (p.Ser2767=)
c.6198A>C (p.Ser2066=)
n.9148A>C
c.8784A>C (p.Ser2928=)
c.7980A>C (p.Ser2660=)
c.7785A>C (p.Ser2595=)
n.9197A>C
5g.37122475G>ACA359497025CPLANE1c.8972C>T (p.Ser2991Leu)
n.833C>T
c.8810C>T (p.Ser2937Leu)
c.5984C>T (n.5984C>T)
n.342-691C>T
c.6008C>T (p.Ser2003Leu)
c.8969C>T (p.Ser2990Leu)
c.8861C>T (p.Ser2954Leu)
c.8843C>T (p.Ser2948Leu)
c.5615C>T (p.Ser1872Leu)
c.3545C>T (p.Ser1182Leu)
c.8918C>T (p.Ser2973Leu)
c.8864C>T (p.Ser2955Leu)
c.8654C>T (p.Ser2885Leu)
c.8300C>T (p.Ser2767Leu)
c.6197C>T (p.Ser2066Leu)
n.9147C>T
c.8783C>T (p.Ser2928Leu)
c.7979C>T (p.Ser2660Leu)
c.7784C>T (p.Ser2595Leu)
n.9196C>T
5g.37122475G>CCA359497026CPLANE1c.8972C>G (p.Ser2991Ter)
n.833C>G
c.8810C>G (p.Ser2937Ter)
c.5984C>G (n.5984C>G)
n.342-691C>G
c.6008C>G (p.Ser2003Ter)
c.8969C>G (p.Ser2990Ter)
c.8861C>G (p.Ser2954Ter)
c.8843C>G (p.Ser2948Ter)
c.5615C>G (p.Ser1872Ter)
c.3545C>G (p.Ser1182Ter)
c.8918C>G (p.Ser2973Ter)
c.8864C>G (p.Ser2955Ter)
c.8654C>G (p.Ser2885Ter)
c.8300C>G (p.Ser2767Ter)
c.6197C>G (p.Ser2066Ter)
n.9147C>G
c.8783C>G (p.Ser2928Ter)
c.7979C>G (p.Ser2660Ter)
c.7784C>G (p.Ser2595Ter)
n.9196C>G
 dbSNP
5g.37122475G=CA1539665382CPLANE1c.8972C= (p.Ser2991=)
n.833C=
c.8810C= (p.Ser2937=)
c.5984C= (n.5984C=)
n.342-691C=
c.6008C= (p.Ser2003=)
c.8969C= (p.Ser2990=)
c.8861C= (p.Ser2954=)
c.8843C= (p.Ser2948=)
c.5615C= (p.Ser1872=)
c.3545C= (p.Ser1182=)
c.8918C= (p.Ser2973=)
c.8864C= (p.Ser2955=)
c.8654C= (p.Ser2885=)
c.8300C= (p.Ser2767=)
c.6197C= (p.Ser2066=)
n.9147C=
c.8783C= (p.Ser2928=)
c.7979C= (p.Ser2660=)
c.7784C= (p.Ser2595=)
n.9196C=
5g.37122475G>TCA359497030CPLANE1c.8972C>A (p.Ser2991Ter)
n.833C>A
c.8810C>A (p.Ser2937Ter)
c.5984C>A (n.5984C>A)
n.342-691C>A
c.6008C>A (p.Ser2003Ter)
c.8969C>A (p.Ser2990Ter)
c.8861C>A (p.Ser2954Ter)
c.8843C>A (p.Ser2948Ter)
c.5615C>A (p.Ser1872Ter)
c.3545C>A (p.Ser1182Ter)
c.8918C>A (p.Ser2973Ter)
c.8864C>A (p.Ser2955Ter)
c.8654C>A (p.Ser2885Ter)
c.8300C>A (p.Ser2767Ter)
c.6197C>A (p.Ser2066Ter)
n.9147C>A
c.8783C>A (p.Ser2928Ter)
c.7979C>A (p.Ser2660Ter)
c.7784C>A (p.Ser2595Ter)
n.9196C>A
5g.37122476A=CA1539665384CPLANE1c.8971T= (p.Ser2991=)
n.832T=
c.8809T= (p.Ser2937=)
c.5983T= (n.5983T=)
n.342-692T=
c.6007T= (p.Ser2003=)
c.8968T= (p.Ser2990=)
c.8860T= (p.Ser2954=)
c.8842T= (p.Ser2948=)
c.5614T= (p.Ser1872=)
c.3544T= (p.Ser1182=)
c.8917T= (p.Ser2973=)
c.8863T= (p.Ser2955=)
c.8653T= (p.Ser2885=)
c.8299T= (p.Ser2767=)
c.6196T= (p.Ser2066=)
n.9146T=
c.8782T= (p.Ser2928=)
c.7978T= (p.Ser2660=)
c.7783T= (p.Ser2595=)
n.9195T=
5g.37122476A>CCA359497033CPLANE1c.8971T>G (p.Ser2991Ala)
n.832T>G
c.8809T>G (p.Ser2937Ala)
c.5983T>G (n.5983T>G)
n.342-692T>G
c.6007T>G (p.Ser2003Ala)
c.8968T>G (p.Ser2990Ala)
c.8860T>G (p.Ser2954Ala)
c.8842T>G (p.Ser2948Ala)
c.5614T>G (p.Ser1872Ala)
c.3544T>G (p.Ser1182Ala)
c.8917T>G (p.Ser2973Ala)
c.8863T>G (p.Ser2955Ala)
c.8653T>G (p.Ser2885Ala)
c.8299T>G (p.Ser2767Ala)
c.6196T>G (p.Ser2066Ala)
n.9146T>G
c.8782T>G (p.Ser2928Ala)
c.7978T>G (p.Ser2660Ala)
c.7783T>G (p.Ser2595Ala)
n.9195T>G
5g.37122476A>GCA359497037CPLANE1c.8971T>C (p.Ser2991Pro)
n.832T>C
c.8809T>C (p.Ser2937Pro)
c.5983T>C (n.5983T>C)
n.342-692T>C
c.6007T>C (p.Ser2003Pro)
c.8968T>C (p.Ser2990Pro)
c.8860T>C (p.Ser2954Pro)
c.8842T>C (p.Ser2948Pro)
c.5614T>C (p.Ser1872Pro)
c.3544T>C (p.Ser1182Pro)
c.8917T>C (p.Ser2973Pro)
c.8863T>C (p.Ser2955Pro)
c.8653T>C (p.Ser2885Pro)
c.8299T>C (p.Ser2767Pro)
c.6196T>C (p.Ser2066Pro)
n.9146T>C
c.8782T>C (p.Ser2928Pro)
c.7978T>C (p.Ser2660Pro)
c.7783T>C (p.Ser2595Pro)
n.9195T>C
 dbSNP gnomAD v3 gnomAD v4
5g.37122476A>TCA359497035CPLANE1c.8971T>A (p.Ser2991Thr)
n.832T>A
c.8809T>A (p.Ser2937Thr)
c.5983T>A (n.5983T>A)
n.342-692T>A
c.6007T>A (p.Ser2003Thr)
c.8968T>A (p.Ser2990Thr)
c.8860T>A (p.Ser2954Thr)
c.8842T>A (p.Ser2948Thr)
c.5614T>A (p.Ser1872Thr)
c.3544T>A (p.Ser1182Thr)
c.8917T>A (p.Ser2973Thr)
c.8863T>A (p.Ser2955Thr)
c.8653T>A (p.Ser2885Thr)
c.8299T>A (p.Ser2767Thr)
c.6196T>A (p.Ser2066Thr)
n.9146T>A
c.8782T>A (p.Ser2928Thr)
c.7978T>A (p.Ser2660Thr)
c.7783T>A (p.Ser2595Thr)
n.9195T>A
5g.37122477A>CCA443921912CPLANE1c.8970T>G (p.Thr2990=)
n.831T>G
c.8808T>G (p.Thr2936=)
c.5982T>G (n.5982T>G)
n.342-693T>G
c.6006T>G (p.Thr2002=)
c.8967T>G (p.Thr2989=)
c.8859T>G (p.Thr2953=)
c.8841T>G (p.Thr2947=)
c.5613T>G (p.Thr1871=)
c.3543T>G (p.Thr1181=)
c.8916T>G (p.Thr2972=)
c.8862T>G (p.Thr2954=)
c.8652T>G (p.Thr2884=)
c.8298T>G (p.Thr2766=)
c.6195T>G (p.Thr2065=)
n.9145T>G
c.8781T>G (p.Thr2927=)
c.7977T>G (p.Thr2659=)
c.7782T>G (p.Thr2594=)
n.9194T>G
5g.37122477A>GCA443921913CPLANE1c.8970T>C (p.Thr2990=)
n.831T>C
c.8808T>C (p.Thr2936=)
c.5982T>C (n.5982T>C)
n.342-693T>C
c.6006T>C (p.Thr2002=)
c.8967T>C (p.Thr2989=)
c.8859T>C (p.Thr2953=)
c.8841T>C (p.Thr2947=)
c.5613T>C (p.Thr1871=)
c.3543T>C (p.Thr1181=)
c.8916T>C (p.Thr2972=)
c.8862T>C (p.Thr2954=)
c.8652T>C (p.Thr2884=)
c.8298T>C (p.Thr2766=)
c.6195T>C (p.Thr2065=)
n.9145T>C
c.8781T>C (p.Thr2927=)
c.7977T>C (p.Thr2659=)
c.7782T>C (p.Thr2594=)
n.9194T>C
5g.37122477A>TCA443921914CPLANE1c.8970T>A (p.Thr2990=)
n.831T>A
c.8808T>A (p.Thr2936=)
c.5982T>A (n.5982T>A)
n.342-693T>A
c.6006T>A (p.Thr2002=)
c.8967T>A (p.Thr2989=)
c.8859T>A (p.Thr2953=)
c.8841T>A (p.Thr2947=)
c.5613T>A (p.Thr1871=)
c.3543T>A (p.Thr1181=)
c.8916T>A (p.Thr2972=)
c.8862T>A (p.Thr2954=)
c.8652T>A (p.Thr2884=)
c.8298T>A (p.Thr2766=)
c.6195T>A (p.Thr2065=)
n.9145T>A
c.8781T>A (p.Thr2927=)
c.7977T>A (p.Thr2659=)
c.7782T>A (p.Thr2594=)
n.9194T>A
5g.37122478G>ACA359497042CPLANE1c.8969C>T (p.Thr2990Ile)
n.830C>T
c.8807C>T (p.Thr2936Ile)
c.5981C>T (n.5981C>T)
n.342-694C>T
c.6005C>T (p.Thr2002Ile)
c.8966C>T (p.Thr2989Ile)
c.8858C>T (p.Thr2953Ile)
c.8840C>T (p.Thr2947Ile)
c.5612C>T (p.Thr1871Ile)
c.3542C>T (p.Thr1181Ile)
c.8915C>T (p.Thr2972Ile)
c.8861C>T (p.Thr2954Ile)
c.8651C>T (p.Thr2884Ile)
c.8297C>T (p.Thr2766Ile)
c.6194C>T (p.Thr2065Ile)
n.9144C>T
c.8780C>T (p.Thr2927Ile)
c.7976C>T (p.Thr2659Ile)
c.7781C>T (p.Thr2594Ile)
n.9193C>T
5g.37122478G>CCA359497046CPLANE1c.8969C>G (p.Thr2990Ser)
n.830C>G
c.8807C>G (p.Thr2936Ser)
c.5981C>G (n.5981C>G)
n.342-694C>G
c.6005C>G (p.Thr2002Ser)
c.8966C>G (p.Thr2989Ser)
c.8858C>G (p.Thr2953Ser)
c.8840C>G (p.Thr2947Ser)
c.5612C>G (p.Thr1871Ser)
c.3542C>G (p.Thr1181Ser)
c.8915C>G (p.Thr2972Ser)
c.8861C>G (p.Thr2954Ser)
c.8651C>G (p.Thr2884Ser)
c.8297C>G (p.Thr2766Ser)
c.6194C>G (p.Thr2065Ser)
n.9144C>G
c.8780C>G (p.Thr2927Ser)
c.7976C>G (p.Thr2659Ser)
c.7781C>G (p.Thr2594Ser)
n.9193C>G
5g.37122478G>TCA359497043CPLANE1c.8969C>A (p.Thr2990Asn)
n.830C>A
c.8807C>A (p.Thr2936Asn)
c.5981C>A (n.5981C>A)
n.342-694C>A
c.6005C>A (p.Thr2002Asn)
c.8966C>A (p.Thr2989Asn)
c.8858C>A (p.Thr2953Asn)
c.8840C>A (p.Thr2947Asn)
c.5612C>A (p.Thr1871Asn)
c.3542C>A (p.Thr1181Asn)
c.8915C>A (p.Thr2972Asn)
c.8861C>A (p.Thr2954Asn)
c.8651C>A (p.Thr2884Asn)
c.8297C>A (p.Thr2766Asn)
c.6194C>A (p.Thr2065Asn)
n.9144C>A
c.8780C>A (p.Thr2927Asn)
c.7976C>A (p.Thr2659Asn)
c.7781C>A (p.Thr2594Asn)
n.9193C>A
5g.37122479T>ACA359497053CPLANE1c.8968A>T (p.Thr2990Ser)
n.829A>T
c.8806A>T (p.Thr2936Ser)
c.5980A>T (n.5980A>T)
n.342-695A>T
c.6004A>T (p.Thr2002Ser)
c.8965A>T (p.Thr2989Ser)
c.8857A>T (p.Thr2953Ser)
c.8839A>T (p.Thr2947Ser)
c.5611A>T (p.Thr1871Ser)
c.3541A>T (p.Thr1181Ser)
c.8914A>T (p.Thr2972Ser)
c.8860A>T (p.Thr2954Ser)
c.8650A>T (p.Thr2884Ser)
c.8296A>T (p.Thr2766Ser)
c.6193A>T (p.Thr2065Ser)
n.9143A>T
c.8779A>T (p.Thr2927Ser)
c.7975A>T (p.Thr2659Ser)
c.7780A>T (p.Thr2594Ser)
n.9192A>T
5g.37122479T>CCA359497056CPLANE1c.8968A>G (p.Thr2990Ala)
n.829A>G
c.8806A>G (p.Thr2936Ala)
c.5980A>G (n.5980A>G)
n.342-695A>G
c.6004A>G (p.Thr2002Ala)
c.8965A>G (p.Thr2989Ala)
c.8857A>G (p.Thr2953Ala)
c.8839A>G (p.Thr2947Ala)
c.5611A>G (p.Thr1871Ala)
c.3541A>G (p.Thr1181Ala)
c.8914A>G (p.Thr2972Ala)
c.8860A>G (p.Thr2954Ala)
c.8650A>G (p.Thr2884Ala)
c.8296A>G (p.Thr2766Ala)
c.6193A>G (p.Thr2065Ala)
n.9143A>G
c.8779A>G (p.Thr2927Ala)
c.7975A>G (p.Thr2659Ala)
c.7780A>G (p.Thr2594Ala)
n.9192A>G
5g.37122479T>GCA359497059CPLANE1c.8968A>C (p.Thr2990Pro)
n.829A>C
c.8806A>C (p.Thr2936Pro)
c.5980A>C (n.5980A>C)
n.342-695A>C
c.6004A>C (p.Thr2002Pro)
c.8965A>C (p.Thr2989Pro)
c.8857A>C (p.Thr2953Pro)
c.8839A>C (p.Thr2947Pro)
c.5611A>C (p.Thr1871Pro)
c.3541A>C (p.Thr1181Pro)
c.8914A>C (p.Thr2972Pro)
c.8860A>C (p.Thr2954Pro)
c.8650A>C (p.Thr2884Pro)
c.8296A>C (p.Thr2766Pro)
c.6193A>C (p.Thr2065Pro)
n.9143A>C
c.8779A>C (p.Thr2927Pro)
c.7975A>C (p.Thr2659Pro)
c.7780A>C (p.Thr2594Pro)
n.9192A>C
5g.37122480C>ACA359497061CPLANE1c.8967G>T (p.Met2989Ile)
n.828G>T
c.8805G>T (p.Met2935Ile)
c.5979G>T (n.5979G>T)
n.342-696G>T
c.6003G>T (p.Met2001Ile)
c.8964G>T (p.Met2988Ile)
c.8856G>T (p.Met2952Ile)
c.8838G>T (p.Met2946Ile)
c.5610G>T (p.Met1870Ile)
c.3540G>T (p.Met1180Ile)
c.8913G>T (p.Met2971Ile)
c.8859G>T (p.Met2953Ile)
c.8649G>T (p.Met2883Ile)
c.8295G>T (p.Met2765Ile)
c.6192G>T (p.Met2064Ile)
n.9142G>T
c.8778G>T (p.Met2926Ile)
c.7974G>T (p.Met2658Ile)
c.7779G>T (p.Met2593Ile)
n.9191G>T
5g.37122480C>GCA359497062CPLANE1c.8967G>C (p.Met2989Ile)
n.828G>C
c.8805G>C (p.Met2935Ile)
c.5979G>C (n.5979G>C)
n.342-696G>C
c.6003G>C (p.Met2001Ile)
c.8964G>C (p.Met2988Ile)
c.8856G>C (p.Met2952Ile)
c.8838G>C (p.Met2946Ile)
c.5610G>C (p.Met1870Ile)
c.3540G>C (p.Met1180Ile)
c.8913G>C (p.Met2971Ile)
c.8859G>C (p.Met2953Ile)
c.8649G>C (p.Met2883Ile)
c.8295G>C (p.Met2765Ile)
c.6192G>C (p.Met2064Ile)
n.9142G>C
c.8778G>C (p.Met2926Ile)
c.7974G>C (p.Met2658Ile)
c.7779G>C (p.Met2593Ile)
n.9191G>C
5g.37122480C>TCA359497063CPLANE1c.8967G>A (p.Met2989Ile)
n.828G>A
c.8805G>A (p.Met2935Ile)
c.5979G>A (n.5979G>A)
n.342-696G>A
c.6003G>A (p.Met2001Ile)
c.8964G>A (p.Met2988Ile)
c.8856G>A (p.Met2952Ile)
c.8838G>A (p.Met2946Ile)
c.5610G>A (p.Met1870Ile)
c.3540G>A (p.Met1180Ile)
c.8913G>A (p.Met2971Ile)
c.8859G>A (p.Met2953Ile)
c.8649G>A (p.Met2883Ile)
c.8295G>A (p.Met2765Ile)
c.6192G>A (p.Met2064Ile)
n.9142G>A
c.8778G>A (p.Met2926Ile)
c.7974G>A (p.Met2658Ile)
c.7779G>A (p.Met2593Ile)
n.9191G>A
5g.37122481A>CCA359497064CPLANE1c.8966T>G (p.Met2989Arg)
n.827T>G
c.8804T>G (p.Met2935Arg)
c.5978T>G (n.5978T>G)
n.342-697T>G
c.6002T>G (p.Met2001Arg)
c.8963T>G (p.Met2988Arg)
c.8855T>G (p.Met2952Arg)
c.8837T>G (p.Met2946Arg)
c.5609T>G (p.Met1870Arg)
c.3539T>G (p.Met1180Arg)
c.8912T>G (p.Met2971Arg)
c.8858T>G (p.Met2953Arg)
c.8648T>G (p.Met2883Arg)
c.8294T>G (p.Met2765Arg)
c.6191T>G (p.Met2064Arg)
n.9141T>G
c.8777T>G (p.Met2926Arg)
c.7973T>G (p.Met2658Arg)
c.7778T>G (p.Met2593Arg)
n.9190T>G
5g.37122481A>GCA359497065CPLANE1c.8966T>C (p.Met2989Thr)
n.827T>C
c.8804T>C (p.Met2935Thr)
c.5978T>C (n.5978T>C)
n.342-697T>C
c.6002T>C (p.Met2001Thr)
c.8963T>C (p.Met2988Thr)
c.8855T>C (p.Met2952Thr)
c.8837T>C (p.Met2946Thr)
c.5609T>C (p.Met1870Thr)
c.3539T>C (p.Met1180Thr)
c.8912T>C (p.Met2971Thr)
c.8858T>C (p.Met2953Thr)
c.8648T>C (p.Met2883Thr)
c.8294T>C (p.Met2765Thr)
c.6191T>C (p.Met2064Thr)
n.9141T>C
c.8777T>C (p.Met2926Thr)
c.7973T>C (p.Met2658Thr)
c.7778T>C (p.Met2593Thr)
n.9190T>C
5g.37122481A>TCA359497066CPLANE1c.8966T>A (p.Met2989Lys)
n.827T>A
c.8804T>A (p.Met2935Lys)
c.5978T>A (n.5978T>A)
n.342-697T>A
c.6002T>A (p.Met2001Lys)
c.8963T>A (p.Met2988Lys)
c.8855T>A (p.Met2952Lys)
c.8837T>A (p.Met2946Lys)
c.5609T>A (p.Met1870Lys)
c.3539T>A (p.Met1180Lys)
c.8912T>A (p.Met2971Lys)
c.8858T>A (p.Met2953Lys)
c.8648T>A (p.Met2883Lys)
c.8294T>A (p.Met2765Lys)
c.6191T>A (p.Met2064Lys)
n.9141T>A
c.8777T>A (p.Met2926Lys)
c.7973T>A (p.Met2658Lys)
c.7778T>A (p.Met2593Lys)
n.9190T>A
 ClinVar dbSNP
5g.37122482T>ACA359497069CPLANE1c.8965A>T (p.Met2989Leu)
n.826A>T
c.8803A>T (p.Met2935Leu)
c.5977A>T (n.5977A>T)
n.342-698A>T
c.6001A>T (p.Met2001Leu)
c.8962A>T (p.Met2988Leu)
c.8854A>T (p.Met2952Leu)
c.8836A>T (p.Met2946Leu)
c.5608A>T (p.Met1870Leu)
c.3538A>T (p.Met1180Leu)
c.8911A>T (p.Met2971Leu)
c.8857A>T (p.Met2953Leu)
c.8647A>T (p.Met2883Leu)
c.8293A>T (p.Met2765Leu)
c.6190A>T (p.Met2064Leu)
n.9140A>T
c.8776A>T (p.Met2926Leu)
c.7972A>T (p.Met2658Leu)
c.7777A>T (p.Met2593Leu)
n.9189A>T
 ClinVar dbSNP
5g.37122482T>CCA3237605CPLANE1c.8965A>G (p.Met2989Val)
n.826A>G
c.8803A>G (p.Met2935Val)
c.5977A>G (n.5977A>G)
n.342-698A>G
c.6001A>G (p.Met2001Val)
c.8962A>G (p.Met2988Val)
c.8854A>G (p.Met2952Val)
c.8836A>G (p.Met2946Val)
c.5608A>G (p.Met1870Val)
c.3538A>G (p.Met1180Val)
c.8911A>G (p.Met2971Val)
c.8857A>G (p.Met2953Val)
c.8647A>G (p.Met2883Val)
c.8293A>G (p.Met2765Val)
c.6190A>G (p.Met2064Val)
n.9140A>G
c.8776A>G (p.Met2926Val)
c.7972A>G (p.Met2658Val)
c.7777A>G (p.Met2593Val)
n.9189A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37122482T>GCA117057268CPLANE1c.8965A>C (p.Met2989Leu)
n.826A>C
c.8803A>C (p.Met2935Leu)
c.5977A>C (n.5977A>C)
n.342-698A>C
c.6001A>C (p.Met2001Leu)
c.8962A>C (p.Met2988Leu)
c.8854A>C (p.Met2952Leu)
c.8836A>C (p.Met2946Leu)
c.5608A>C (p.Met1870Leu)
c.3538A>C (p.Met1180Leu)
c.8911A>C (p.Met2971Leu)
c.8857A>C (p.Met2953Leu)
c.8647A>C (p.Met2883Leu)
c.8293A>C (p.Met2765Leu)
c.6190A>C (p.Met2064Leu)
n.9140A>C
c.8776A>C (p.Met2926Leu)
c.7972A>C (p.Met2658Leu)
c.7777A>C (p.Met2593Leu)
n.9189A>C
 dbSNP
5g.37122482T=CA1539665386CPLANE1c.8965A= (p.Met2989=)
n.826A=
c.8803A= (p.Met2935=)
c.5977A= (n.5977A=)
n.342-698A=
c.6001A= (p.Met2001=)
c.8962A= (p.Met2988=)
c.8854A= (p.Met2952=)
c.8836A= (p.Met2946=)
c.5608A= (p.Met1870=)
c.3538A= (p.Met1180=)
c.8911A= (p.Met2971=)
c.8857A= (p.Met2953=)
c.8647A= (p.Met2883=)
c.8293A= (p.Met2765=)
c.6190A= (p.Met2064=)
n.9140A=
c.8776A= (p.Met2926=)
c.7972A= (p.Met2658=)
c.7777A= (p.Met2593=)
n.9189A=
5g.37122483G>ACA443921919CPLANE1c.8964C>T (p.Tyr2988=)
n.825C>T
c.8802C>T (p.Tyr2934=)
c.5976C>T (n.5976C>T)
n.342-699C>T
c.6000C>T (p.Tyr2000=)
c.8961C>T (p.Tyr2987=)
c.8853C>T (p.Tyr2951=)
c.8835C>T (p.Tyr2945=)
c.5607C>T (p.Tyr1869=)
c.3537C>T (p.Tyr1179=)
c.8910C>T (p.Tyr2970=)
c.8856C>T (p.Tyr2952=)
c.8646C>T (p.Tyr2882=)
c.8292C>T (p.Tyr2764=)
c.6189C>T (p.Tyr2063=)
n.9139C>T
c.8775C>T (p.Tyr2925=)
c.7971C>T (p.Tyr2657=)
c.7776C>T (p.Tyr2592=)
n.9188C>T
5g.37122483G>CCA359497070CPLANE1c.8964C>G (p.Tyr2988Ter)
n.825C>G
c.8802C>G (p.Tyr2934Ter)
c.5976C>G (n.5976C>G)
n.342-699C>G
c.6000C>G (p.Tyr2000Ter)
c.8961C>G (p.Tyr2987Ter)
c.8853C>G (p.Tyr2951Ter)
c.8835C>G (p.Tyr2945Ter)
c.5607C>G (p.Tyr1869Ter)
c.3537C>G (p.Tyr1179Ter)
c.8910C>G (p.Tyr2970Ter)
c.8856C>G (p.Tyr2952Ter)
c.8646C>G (p.Tyr2882Ter)
c.8292C>G (p.Tyr2764Ter)
c.6189C>G (p.Tyr2063Ter)
n.9139C>G
c.8775C>G (p.Tyr2925Ter)
c.7971C>G (p.Tyr2657Ter)
c.7776C>G (p.Tyr2592Ter)
n.9188C>G
5g.37122483G>TCA359497071CPLANE1c.8964C>A (p.Tyr2988Ter)
n.825C>A
c.8802C>A (p.Tyr2934Ter)
c.5976C>A (n.5976C>A)
n.342-699C>A
c.6000C>A (p.Tyr2000Ter)
c.8961C>A (p.Tyr2987Ter)
c.8853C>A (p.Tyr2951Ter)
c.8835C>A (p.Tyr2945Ter)
c.5607C>A (p.Tyr1869Ter)
c.3537C>A (p.Tyr1179Ter)
c.8910C>A (p.Tyr2970Ter)
c.8856C>A (p.Tyr2952Ter)
c.8646C>A (p.Tyr2882Ter)
c.8292C>A (p.Tyr2764Ter)
c.6189C>A (p.Tyr2063Ter)
n.9139C>A
c.8775C>A (p.Tyr2925Ter)
c.7971C>A (p.Tyr2657Ter)
c.7776C>A (p.Tyr2592Ter)
n.9188C>A
5g.37122484T>ACA359497073CPLANE1c.8963A>T (p.Tyr2988Phe)
n.824A>T
c.8801A>T (p.Tyr2934Phe)
c.5975A>T (n.5975A>T)
n.342-700A>T
c.5999A>T (p.Tyr2000Phe)
c.8960A>T (p.Tyr2987Phe)
c.8852A>T (p.Tyr2951Phe)
c.8834A>T (p.Tyr2945Phe)
c.5606A>T (p.Tyr1869Phe)
c.3536A>T (p.Tyr1179Phe)
c.8909A>T (p.Tyr2970Phe)
c.8855A>T (p.Tyr2952Phe)
c.8645A>T (p.Tyr2882Phe)
c.8291A>T (p.Tyr2764Phe)
c.6188A>T (p.Tyr2063Phe)
n.9138A>T
c.8774A>T (p.Tyr2925Phe)
c.7970A>T (p.Tyr2657Phe)
c.7775A>T (p.Tyr2592Phe)
n.9187A>T
5g.37122484T>CCA359497075CPLANE1c.8963A>G (p.Tyr2988Cys)
n.824A>G
c.8801A>G (p.Tyr2934Cys)
c.5975A>G (n.5975A>G)
n.342-700A>G
c.5999A>G (p.Tyr2000Cys)
c.8960A>G (p.Tyr2987Cys)
c.8852A>G (p.Tyr2951Cys)
c.8834A>G (p.Tyr2945Cys)
c.5606A>G (p.Tyr1869Cys)
c.3536A>G (p.Tyr1179Cys)
c.8909A>G (p.Tyr2970Cys)
c.8855A>G (p.Tyr2952Cys)
c.8645A>G (p.Tyr2882Cys)
c.8291A>G (p.Tyr2764Cys)
c.6188A>G (p.Tyr2063Cys)
n.9138A>G
c.8774A>G (p.Tyr2925Cys)
c.7970A>G (p.Tyr2657Cys)
c.7775A>G (p.Tyr2592Cys)
n.9187A>G
5g.37122484T>GCA359497079CPLANE1c.8963A>C (p.Tyr2988Ser)
n.824A>C
c.8801A>C (p.Tyr2934Ser)
c.5975A>C (n.5975A>C)
n.342-700A>C
c.5999A>C (p.Tyr2000Ser)
c.8960A>C (p.Tyr2987Ser)
c.8852A>C (p.Tyr2951Ser)
c.8834A>C (p.Tyr2945Ser)
c.5606A>C (p.Tyr1869Ser)
c.3536A>C (p.Tyr1179Ser)
c.8909A>C (p.Tyr2970Ser)
c.8855A>C (p.Tyr2952Ser)
c.8645A>C (p.Tyr2882Ser)
c.8291A>C (p.Tyr2764Ser)
c.6188A>C (p.Tyr2063Ser)
n.9138A>C
c.8774A>C (p.Tyr2925Ser)
c.7970A>C (p.Tyr2657Ser)
c.7775A>C (p.Tyr2592Ser)
n.9187A>C
 gnomAD v4
5g.37122485A>CCA359497084CPLANE1c.8962T>G (p.Tyr2988Asp)
n.823T>G
c.8800T>G (p.Tyr2934Asp)
c.5974T>G (n.5974T>G)
n.342-701T>G
c.5998T>G (p.Tyr2000Asp)
c.8959T>G (p.Tyr2987Asp)
c.8851T>G (p.Tyr2951Asp)
c.8833T>G (p.Tyr2945Asp)
c.5605T>G (p.Tyr1869Asp)
c.3535T>G (p.Tyr1179Asp)
c.8908T>G (p.Tyr2970Asp)
c.8854T>G (p.Tyr2952Asp)
c.8644T>G (p.Tyr2882Asp)
c.8290T>G (p.Tyr2764Asp)
c.6187T>G (p.Tyr2063Asp)
n.9137T>G
c.8773T>G (p.Tyr2925Asp)
c.7969T>G (p.Tyr2657Asp)
c.7774T>G (p.Tyr2592Asp)
n.9186T>G
5g.37122485A>GCA359497086CPLANE1c.8962T>C (p.Tyr2988His)
n.823T>C
c.8800T>C (p.Tyr2934His)
c.5974T>C (n.5974T>C)
n.342-701T>C
c.5998T>C (p.Tyr2000His)
c.8959T>C (p.Tyr2987His)
c.8851T>C (p.Tyr2951His)
c.8833T>C (p.Tyr2945His)
c.5605T>C (p.Tyr1869His)
c.3535T>C (p.Tyr1179His)
c.8908T>C (p.Tyr2970His)
c.8854T>C (p.Tyr2952His)
c.8644T>C (p.Tyr2882His)
c.8290T>C (p.Tyr2764His)
c.6187T>C (p.Tyr2063His)
n.9137T>C
c.8773T>C (p.Tyr2925His)
c.7969T>C (p.Tyr2657His)
c.7774T>C (p.Tyr2592His)
n.9186T>C
 gnomAD v4
5g.37122485A>TCA359497087CPLANE1c.8962T>A (p.Tyr2988Asn)
n.823T>A
c.8800T>A (p.Tyr2934Asn)
c.5974T>A (n.5974T>A)
n.342-701T>A
c.5998T>A (p.Tyr2000Asn)
c.8959T>A (p.Tyr2987Asn)
c.8851T>A (p.Tyr2951Asn)
c.8833T>A (p.Tyr2945Asn)
c.5605T>A (p.Tyr1869Asn)
c.3535T>A (p.Tyr1179Asn)
c.8908T>A (p.Tyr2970Asn)
c.8854T>A (p.Tyr2952Asn)
c.8644T>A (p.Tyr2882Asn)
c.8290T>A (p.Tyr2764Asn)
c.6187T>A (p.Tyr2063Asn)
n.9137T>A
c.8773T>A (p.Tyr2925Asn)
c.7969T>A (p.Tyr2657Asn)
c.7774T>A (p.Tyr2592Asn)
n.9186T>A
5g.37122486A>CCA443921920CPLANE1c.8961T>G (p.Leu2987=)
n.822T>G
c.8799T>G (p.Leu2933=)
c.5973T>G (n.5973T>G)
n.342-702T>G
c.5997T>G (p.Leu1999=)
c.8958T>G (p.Leu2986=)
c.8850T>G (p.Leu2950=)
c.8832T>G (p.Leu2944=)
c.5604T>G (p.Leu1868=)
c.3534T>G (p.Leu1178=)
c.8907T>G (p.Leu2969=)
c.8853T>G (p.Leu2951=)
c.8643T>G (p.Leu2881=)
c.8289T>G (p.Leu2763=)
c.6186T>G (p.Leu2062=)
n.9136T>G
c.8772T>G (p.Leu2924=)
c.7968T>G (p.Leu2656=)
c.7773T>G (p.Leu2591=)
n.9185T>G
5g.37122486A>GCA443921921CPLANE1c.8961T>C (p.Leu2987=)
n.822T>C
c.8799T>C (p.Leu2933=)
c.5973T>C (n.5973T>C)
n.342-702T>C
c.5997T>C (p.Leu1999=)
c.8958T>C (p.Leu2986=)
c.8850T>C (p.Leu2950=)
c.8832T>C (p.Leu2944=)
c.5604T>C (p.Leu1868=)
c.3534T>C (p.Leu1178=)
c.8907T>C (p.Leu2969=)
c.8853T>C (p.Leu2951=)
c.8643T>C (p.Leu2881=)
c.8289T>C (p.Leu2763=)
c.6186T>C (p.Leu2062=)
n.9136T>C
c.8772T>C (p.Leu2924=)
c.7968T>C (p.Leu2656=)
c.7773T>C (p.Leu2591=)
n.9185T>C
5g.37122486A>TCA443921922CPLANE1c.8961T>A (p.Leu2987=)
n.822T>A
c.8799T>A (p.Leu2933=)
c.5973T>A (n.5973T>A)
n.342-702T>A
c.5997T>A (p.Leu1999=)
c.8958T>A (p.Leu2986=)
c.8850T>A (p.Leu2950=)
c.8832T>A (p.Leu2944=)
c.5604T>A (p.Leu1868=)
c.3534T>A (p.Leu1178=)
c.8907T>A (p.Leu2969=)
c.8853T>A (p.Leu2951=)
c.8643T>A (p.Leu2881=)
c.8289T>A (p.Leu2763=)
c.6186T>A (p.Leu2062=)
n.9136T>A
c.8772T>A (p.Leu2924=)
c.7968T>A (p.Leu2656=)
c.7773T>A (p.Leu2591=)
n.9185T>A
5g.37122487A>CCA359497088CPLANE1c.8960T>G (p.Leu2987Arg)
n.821T>G
c.8798T>G (p.Leu2933Arg)
c.5972T>G (n.5972T>G)
n.342-703T>G
c.5996T>G (p.Leu1999Arg)
c.8957T>G (p.Leu2986Arg)
c.8849T>G (p.Leu2950Arg)
c.8831T>G (p.Leu2944Arg)
c.5603T>G (p.Leu1868Arg)
c.3533T>G (p.Leu1178Arg)
c.8906T>G (p.Leu2969Arg)
c.8852T>G (p.Leu2951Arg)
c.8642T>G (p.Leu2881Arg)
c.8288T>G (p.Leu2763Arg)
c.6185T>G (p.Leu2062Arg)
n.9135T>G
c.8771T>G (p.Leu2924Arg)
c.7967T>G (p.Leu2656Arg)
c.7772T>G (p.Leu2591Arg)
n.9184T>G
5g.37122487A>GCA359497089CPLANE1c.8960T>C (p.Leu2987Pro)
n.821T>C
c.8798T>C (p.Leu2933Pro)
c.5972T>C (n.5972T>C)
n.342-703T>C
c.5996T>C (p.Leu1999Pro)
c.8957T>C (p.Leu2986Pro)
c.8849T>C (p.Leu2950Pro)
c.8831T>C (p.Leu2944Pro)
c.5603T>C (p.Leu1868Pro)
c.3533T>C (p.Leu1178Pro)
c.8906T>C (p.Leu2969Pro)
c.8852T>C (p.Leu2951Pro)
c.8642T>C (p.Leu2881Pro)
c.8288T>C (p.Leu2763Pro)
c.6185T>C (p.Leu2062Pro)
n.9135T>C
c.8771T>C (p.Leu2924Pro)
c.7967T>C (p.Leu2656Pro)
c.7772T>C (p.Leu2591Pro)
n.9184T>C
 COSMIC COSMIC
5g.37122487A>TCA359497090CPLANE1c.8960T>A (p.Leu2987His)
n.821T>A
c.8798T>A (p.Leu2933His)
c.5972T>A (n.5972T>A)
n.342-703T>A
c.5996T>A (p.Leu1999His)
c.8957T>A (p.Leu2986His)
c.8849T>A (p.Leu2950His)
c.8831T>A (p.Leu2944His)
c.5603T>A (p.Leu1868His)
c.3533T>A (p.Leu1178His)
c.8906T>A (p.Leu2969His)
c.8852T>A (p.Leu2951His)
c.8642T>A (p.Leu2881His)
c.8288T>A (p.Leu2763His)
c.6185T>A (p.Leu2062His)
n.9135T>A
c.8771T>A (p.Leu2924His)
c.7967T>A (p.Leu2656His)
c.7772T>A (p.Leu2591His)
n.9184T>A
5g.37122488G>ACA359497092CPLANE1c.8959C>T (p.Leu2987Phe)
n.820C>T
c.8797C>T (p.Leu2933Phe)
c.5971C>T (n.5971C>T)
n.342-704C>T
c.5995C>T (p.Leu1999Phe)
c.8956C>T (p.Leu2986Phe)
c.8848C>T (p.Leu2950Phe)
c.8830C>T (p.Leu2944Phe)
c.5602C>T (p.Leu1868Phe)
c.3532C>T (p.Leu1178Phe)
c.8905C>T (p.Leu2969Phe)
c.8851C>T (p.Leu2951Phe)
c.8641C>T (p.Leu2881Phe)
c.8287C>T (p.Leu2763Phe)
c.6184C>T (p.Leu2062Phe)
n.9134C>T
c.8770C>T (p.Leu2924Phe)
c.7966C>T (p.Leu2656Phe)
c.7771C>T (p.Leu2591Phe)
n.9183C>T
 dbSNP
5g.37122488G>CCA359497094CPLANE1c.8959C>G (p.Leu2987Val)
n.820C>G
c.8797C>G (p.Leu2933Val)
c.5971C>G (n.5971C>G)
n.342-704C>G
c.5995C>G (p.Leu1999Val)
c.8956C>G (p.Leu2986Val)
c.8848C>G (p.Leu2950Val)
c.8830C>G (p.Leu2944Val)
c.5602C>G (p.Leu1868Val)
c.3532C>G (p.Leu1178Val)
c.8905C>G (p.Leu2969Val)
c.8851C>G (p.Leu2951Val)
c.8641C>G (p.Leu2881Val)
c.8287C>G (p.Leu2763Val)
c.6184C>G (p.Leu2062Val)
n.9134C>G
c.8770C>G (p.Leu2924Val)
c.7966C>G (p.Leu2656Val)
c.7771C>G (p.Leu2591Val)
n.9183C>G
 gnomAD v4
5g.37122488G=CA1539665388CPLANE1c.8959C= (p.Leu2987=)
n.820C=
c.8797C= (p.Leu2933=)
c.5971C= (n.5971C=)
n.342-704C=
c.5995C= (p.Leu1999=)
c.8956C= (p.Leu2986=)
c.8848C= (p.Leu2950=)
c.8830C= (p.Leu2944=)
c.5602C= (p.Leu1868=)
c.3532C= (p.Leu1178=)
c.8905C= (p.Leu2969=)
c.8851C= (p.Leu2951=)
c.8641C= (p.Leu2881=)
c.8287C= (p.Leu2763=)
c.6184C= (p.Leu2062=)
n.9134C=
c.8770C= (p.Leu2924=)
c.7966C= (p.Leu2656=)
c.7771C= (p.Leu2591=)
n.9183C=
5g.37122488G>TCA359497096CPLANE1c.8959C>A (p.Leu2987Ile)
n.820C>A
c.8797C>A (p.Leu2933Ile)
c.5971C>A (n.5971C>A)
n.342-704C>A
c.5995C>A (p.Leu1999Ile)
c.8956C>A (p.Leu2986Ile)
c.8848C>A (p.Leu2950Ile)
c.8830C>A (p.Leu2944Ile)
c.5602C>A (p.Leu1868Ile)
c.3532C>A (p.Leu1178Ile)
c.8905C>A (p.Leu2969Ile)
c.8851C>A (p.Leu2951Ile)
c.8641C>A (p.Leu2881Ile)
c.8287C>A (p.Leu2763Ile)
c.6184C>A (p.Leu2062Ile)
n.9134C>A
c.8770C>A (p.Leu2924Ile)
c.7966C>A (p.Leu2656Ile)
c.7771C>A (p.Leu2591Ile)
n.9183C>A
5g.37122489C>ACA117057273CPLANE1c.8959-1G>T (n.8959-1G>T)
n.820-1G>T
c.8797-1G>T (n.8797-1G>T)
c.5971-1G>T (n.5971-1G>T)
n.342-705G>T
c.5995-1G>T (n.5995-1G>T)
c.8956-1G>T (n.8956-1G>T)
c.8848-1G>T (n.8848-1G>T)
c.8830-1G>T (n.8830-1G>T)
c.5602-1G>T (n.5602-1G>T)
c.3532-1G>T (n.3532-1G>T)
c.8905-1G>T (n.8905-1G>T)
c.8851-1G>T (n.8851-1G>T)
c.8641-1G>T (n.8641-1G>T)
c.8287-1G>T (n.8287-1G>T)
c.6184-1G>T (n.6184-1G>T)
n.9134-1G>T
c.8770-1G>T (n.8770-1G>T)
c.7966-1G>T (n.7966-1G>T)
c.7771-1G>T (n.7771-1G>T)
n.9183-1G>T
 dbSNP
5g.37122489C=CA1539665390CPLANE1c.8959-1G= (n.8959-1G=)
n.820-1G=
c.8797-1G= (n.8797-1G=)
c.5971-1G= (n.5971-1G=)
n.342-705G=
c.5995-1G= (n.5995-1G=)
c.8956-1G= (n.8956-1G=)
c.8848-1G= (n.8848-1G=)
c.8830-1G= (n.8830-1G=)
c.5602-1G= (n.5602-1G=)
c.3532-1G= (n.3532-1G=)
c.8905-1G= (n.8905-1G=)
c.8851-1G= (n.8851-1G=)
c.8641-1G= (n.8641-1G=)
c.8287-1G= (n.8287-1G=)
c.6184-1G= (n.6184-1G=)
n.9134-1G=
c.8770-1G= (n.8770-1G=)
c.7966-1G= (n.7966-1G=)
c.7771-1G= (n.7771-1G=)
n.9183-1G=
5g.37122489C>GCA359497113CPLANE1c.8959-1G>C (n.8959-1G>C)
n.820-1G>C
c.8797-1G>C (n.8797-1G>C)
c.5971-1G>C (n.5971-1G>C)
n.342-705G>C
c.5995-1G>C (n.5995-1G>C)
c.8956-1G>C (n.8956-1G>C)
c.8848-1G>C (n.8848-1G>C)
c.8830-1G>C (n.8830-1G>C)
c.5602-1G>C (n.5602-1G>C)
c.3532-1G>C (n.3532-1G>C)
c.8905-1G>C (n.8905-1G>C)
c.8851-1G>C (n.8851-1G>C)
c.8641-1G>C (n.8641-1G>C)
c.8287-1G>C (n.8287-1G>C)
c.6184-1G>C (n.6184-1G>C)
n.9134-1G>C
c.8770-1G>C (n.8770-1G>C)
c.7966-1G>C (n.7966-1G>C)
c.7771-1G>C (n.7771-1G>C)
n.9183-1G>C
5g.37122489C>TCA3237606CPLANE1c.8959-1G>A (n.8959-1G>A)
n.820-1G>A
c.8797-1G>A (n.8797-1G>A)
c.5971-1G>A (n.5971-1G>A)
n.342-705G>A
c.5995-1G>A (n.5995-1G>A)
c.8956-1G>A (n.8956-1G>A)
c.8848-1G>A (n.8848-1G>A)
c.8830-1G>A (n.8830-1G>A)
c.5602-1G>A (n.5602-1G>A)
c.3532-1G>A (n.3532-1G>A)
c.8905-1G>A (n.8905-1G>A)
c.8851-1G>A (n.8851-1G>A)
c.8641-1G>A (n.8641-1G>A)
c.8287-1G>A (n.8287-1G>A)
c.6184-1G>A (n.6184-1G>A)
n.9134-1G>A
c.8770-1G>A (n.8770-1G>A)
c.7966-1G>A (n.7966-1G>A)
c.7771-1G>A (n.7771-1G>A)
n.9183-1G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37122490T>ACA359497125CPLANE1c.8959-2A>T (n.8959-2A>T)
n.820-2A>T
c.8797-2A>T (n.8797-2A>T)
c.5971-2A>T (n.5971-2A>T)
n.342-706A>T
c.5995-2A>T (n.5995-2A>T)
c.8956-2A>T (n.8956-2A>T)
c.8848-2A>T (n.8848-2A>T)
c.8830-2A>T (n.8830-2A>T)
c.5602-2A>T (n.5602-2A>T)
c.3532-2A>T (n.3532-2A>T)
c.8905-2A>T (n.8905-2A>T)
c.8851-2A>T (n.8851-2A>T)
c.8641-2A>T (n.8641-2A>T)
c.8287-2A>T (n.8287-2A>T)
c.6184-2A>T (n.6184-2A>T)
n.9134-2A>T
c.8770-2A>T (n.8770-2A>T)
c.7966-2A>T (n.7966-2A>T)
c.7771-2A>T (n.7771-2A>T)
n.9183-2A>T
5g.37122490T>CCA359497128CPLANE1c.8959-2A>G (n.8959-2A>G)
n.820-2A>G
c.8797-2A>G (n.8797-2A>G)
c.5971-2A>G (n.5971-2A>G)
n.342-706A>G
c.5995-2A>G (n.5995-2A>G)
c.8956-2A>G (n.8956-2A>G)
c.8848-2A>G (n.8848-2A>G)
c.8830-2A>G (n.8830-2A>G)
c.5602-2A>G (n.5602-2A>G)
c.3532-2A>G (n.3532-2A>G)
c.8905-2A>G (n.8905-2A>G)
c.8851-2A>G (n.8851-2A>G)
c.8641-2A>G (n.8641-2A>G)
c.8287-2A>G (n.8287-2A>G)
c.6184-2A>G (n.6184-2A>G)
n.9134-2A>G
c.8770-2A>G (n.8770-2A>G)
c.7966-2A>G (n.7966-2A>G)
c.7771-2A>G (n.7771-2A>G)
n.9183-2A>G
 ClinVar gnomAD v4
5g.37122490T>GCA359497130CPLANE1c.8959-2A>C (n.8959-2A>C)
n.820-2A>C
c.8797-2A>C (n.8797-2A>C)
c.5971-2A>C (n.5971-2A>C)
n.342-706A>C
c.5995-2A>C (n.5995-2A>C)
c.8956-2A>C (n.8956-2A>C)
c.8848-2A>C (n.8848-2A>C)
c.8830-2A>C (n.8830-2A>C)
c.5602-2A>C (n.5602-2A>C)
c.3532-2A>C (n.3532-2A>C)
c.8905-2A>C (n.8905-2A>C)
c.8851-2A>C (n.8851-2A>C)
c.8641-2A>C (n.8641-2A>C)
c.8287-2A>C (n.8287-2A>C)
c.6184-2A>C (n.6184-2A>C)
n.9134-2A>C
c.8770-2A>C (n.8770-2A>C)
c.7966-2A>C (n.7966-2A>C)
c.7771-2A>C (n.7771-2A>C)
n.9183-2A>C
5g.37122492C>ACA810291309CPLANE1c.8959-4G>T (n.8959-4G>T)
n.820-4G>T
c.8797-4G>T (n.8797-4G>T)
c.5971-4G>T (n.5971-4G>T)
n.342-708G>T
c.5995-4G>T (n.5995-4G>T)
c.8956-4G>T (n.8956-4G>T)
c.8848-4G>T (n.8848-4G>T)
c.8830-4G>T (n.8830-4G>T)
c.5602-4G>T (n.5602-4G>T)
c.3532-4G>T (n.3532-4G>T)
c.8905-4G>T (n.8905-4G>T)
c.8851-4G>T (n.8851-4G>T)
c.8641-4G>T (n.8641-4G>T)
c.8287-4G>T (n.8287-4G>T)
c.6184-4G>T (n.6184-4G>T)
n.9134-4G>T
c.8770-4G>T (n.8770-4G>T)
c.7966-4G>T (n.7966-4G>T)
c.7771-4G>T (n.7771-4G>T)
n.9183-4G>T
 dbSNP gnomAD v3 gnomAD v4
5g.37122492C=CA1539665391CPLANE1c.8959-4G= (n.8959-4G=)
n.820-4G=
c.8797-4G= (n.8797-4G=)
c.5971-4G= (n.5971-4G=)
n.342-708G=
c.5995-4G= (n.5995-4G=)
c.8956-4G= (n.8956-4G=)
c.8848-4G= (n.8848-4G=)
c.8830-4G= (n.8830-4G=)
c.5602-4G= (n.5602-4G=)
c.3532-4G= (n.3532-4G=)
c.8905-4G= (n.8905-4G=)
c.8851-4G= (n.8851-4G=)
c.8641-4G= (n.8641-4G=)
c.8287-4G= (n.8287-4G=)
c.6184-4G= (n.6184-4G=)
n.9134-4G=
c.8770-4G= (n.8770-4G=)
c.7966-4G= (n.7966-4G=)
c.7771-4G= (n.7771-4G=)
n.9183-4G=
5g.37122493A=CA1539665393CPLANE1c.8959-5T= (n.8959-5T=)
n.820-5T=
c.8797-5T= (n.8797-5T=)
c.5971-5T= (n.5971-5T=)
n.342-709T=
c.5995-5T= (n.5995-5T=)
c.8956-5T= (n.8956-5T=)
c.8848-5T= (n.8848-5T=)
c.8830-5T= (n.8830-5T=)
c.5602-5T= (n.5602-5T=)
c.3532-5T= (n.3532-5T=)
c.8905-5T= (n.8905-5T=)
c.8851-5T= (n.8851-5T=)
c.8641-5T= (n.8641-5T=)
c.8287-5T= (n.8287-5T=)
c.6184-5T= (n.6184-5T=)
n.9134-5T=
c.8770-5T= (n.8770-5T=)
c.7966-5T= (n.7966-5T=)
c.7771-5T= (n.7771-5T=)
n.9183-5T=
5g.37122493A>GCA1539665394CPLANE1c.8959-5T>C (n.8959-5T>C)
n.820-5T>C
c.8797-5T>C (n.8797-5T>C)
c.5971-5T>C (n.5971-5T>C)
n.342-709T>C
c.5995-5T>C (n.5995-5T>C)
c.8956-5T>C (n.8956-5T>C)
c.8848-5T>C (n.8848-5T>C)
c.8830-5T>C (n.8830-5T>C)
c.5602-5T>C (n.5602-5T>C)
c.3532-5T>C (n.3532-5T>C)
c.8905-5T>C (n.8905-5T>C)
c.8851-5T>C (n.8851-5T>C)
c.8641-5T>C (n.8641-5T>C)
c.8287-5T>C (n.8287-5T>C)
c.6184-5T>C (n.6184-5T>C)
n.9134-5T>C
c.8770-5T>C (n.8770-5T>C)
c.7966-5T>C (n.7966-5T>C)
c.7771-5T>C (n.7771-5T>C)
n.9183-5T>C
 ClinVar dbSNP
5g.37122494T>ACA3237607CPLANE1c.8959-6A>T (n.8959-6A>T)
n.820-6A>T
c.8797-6A>T (n.8797-6A>T)
c.5971-6A>T (n.5971-6A>T)
n.342-710A>T
c.5995-6A>T (n.5995-6A>T)
c.8956-6A>T (n.8956-6A>T)
c.8848-6A>T (n.8848-6A>T)
c.8830-6A>T (n.8830-6A>T)
c.5602-6A>T (n.5602-6A>T)
c.3532-6A>T (n.3532-6A>T)
c.8905-6A>T (n.8905-6A>T)
c.8851-6A>T (n.8851-6A>T)
c.8641-6A>T (n.8641-6A>T)
c.8287-6A>T (n.8287-6A>T)
c.6184-6A>T (n.6184-6A>T)
n.9134-6A>T
c.8770-6A>T (n.8770-6A>T)
c.7966-6A>T (n.7966-6A>T)
c.7771-6A>T (n.7771-6A>T)
n.9183-6A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37122494T=CA1539665395CPLANE1c.8959-6A= (n.8959-6A=)
n.820-6A=
c.8797-6A= (n.8797-6A=)
c.5971-6A= (n.5971-6A=)
n.342-710A=
c.5995-6A= (n.5995-6A=)
c.8956-6A= (n.8956-6A=)
c.8848-6A= (n.8848-6A=)
c.8830-6A= (n.8830-6A=)
c.5602-6A= (n.5602-6A=)
c.3532-6A= (n.3532-6A=)
c.8905-6A= (n.8905-6A=)
c.8851-6A= (n.8851-6A=)
c.8641-6A= (n.8641-6A=)
c.8287-6A= (n.8287-6A=)
c.6184-6A= (n.6184-6A=)
n.9134-6A=
c.8770-6A= (n.8770-6A=)
c.7966-6A= (n.7966-6A=)
c.7771-6A= (n.7771-6A=)
n.9183-6A=
5g.37122494_37122498delinsTAAAACA1539665396CPLANE1c.8959-10_8959-6delinsTTTTA (n.8959-10_8959-6delinsTTTTA)
n.820-10_820-6delinsTTTTA
c.8797-10_8797-6delinsTTTTA (n.8797-10_8797-6delinsTTTTA)
c.5971-10_5971-6delinsTTTTA (n.5971-10_5971-6delinsTTTTA)
n.342-714_342-710delinsTTTTA
c.5995-10_5995-6delinsTTTTA (n.5995-10_5995-6delinsTTTTA)
c.8956-10_8956-6delinsTTTTA (n.8956-10_8956-6delinsTTTTA)
c.8848-10_8848-6delinsTTTTA (n.8848-10_8848-6delinsTTTTA)
c.8830-10_8830-6delinsTTTTA (n.8830-10_8830-6delinsTTTTA)
c.5602-10_5602-6delinsTTTTA (n.5602-10_5602-6delinsTTTTA)
c.3532-10_3532-6delinsTTTTA (n.3532-10_3532-6delinsTTTTA)
c.8905-10_8905-6delinsTTTTA (n.8905-10_8905-6delinsTTTTA)
c.8851-10_8851-6delinsTTTTA (n.8851-10_8851-6delinsTTTTA)
c.8641-10_8641-6delinsTTTTA (n.8641-10_8641-6delinsTTTTA)
c.8287-10_8287-6delinsTTTTA (n.8287-10_8287-6delinsTTTTA)
c.6184-10_6184-6delinsTTTTA (n.6184-10_6184-6delinsTTTTA)
n.9134-10_9134-6delinsTTTTA
c.8770-10_8770-6delinsTTTTA (n.8770-10_8770-6delinsTTTTA)
c.7966-10_7966-6delinsTTTTA (n.7966-10_7966-6delinsTTTTA)
c.7771-10_7771-6delinsTTTTA (n.7771-10_7771-6delinsTTTTA)
n.9183-10_9183-6delinsTTTTA
5g.37122497_37122500delCA1075106951CPLANE1c.8959-10_8959-7del (n.8959-10_8959-7del)
n.820-10_820-7del
c.8797-10_8797-7del (n.8797-10_8797-7del)
c.5971-10_5971-7del (n.5971-10_5971-7del)
n.342-714_342-711del
c.5995-10_5995-7del (n.5995-10_5995-7del)
c.8956-10_8956-7del (n.8956-10_8956-7del)
c.8848-10_8848-7del (n.8848-10_8848-7del)
c.8830-10_8830-7del (n.8830-10_8830-7del)
c.5602-10_5602-7del (n.5602-10_5602-7del)
c.3532-10_3532-7del (n.3532-10_3532-7del)
c.8905-10_8905-7del (n.8905-10_8905-7del)
c.8851-10_8851-7del (n.8851-10_8851-7del)
c.8641-10_8641-7del (n.8641-10_8641-7del)
c.8287-10_8287-7del (n.8287-10_8287-7del)
c.6184-10_6184-7del (n.6184-10_6184-7del)
n.9134-10_9134-7del
c.8770-10_8770-7del (n.8770-10_8770-7del)
c.7966-10_7966-7del (n.7966-10_7966-7del)
c.7771-10_7771-7del (n.7771-10_7771-7del)
n.9183-10_9183-7del
 dbSNP gnomAD v3 gnomAD v4
5g.37122497A>GCA2708562003CPLANE1c.8959-9T>C (n.8959-9T>C)
n.820-9T>C
c.8797-9T>C (n.8797-9T>C)
c.5971-9T>C (n.5971-9T>C)
n.342-713T>C
c.5995-9T>C (n.5995-9T>C)
c.8956-9T>C (n.8956-9T>C)
c.8848-9T>C (n.8848-9T>C)
c.8830-9T>C (n.8830-9T>C)
c.5602-9T>C (n.5602-9T>C)
c.3532-9T>C (n.3532-9T>C)
c.8905-9T>C (n.8905-9T>C)
c.8851-9T>C (n.8851-9T>C)
c.8641-9T>C (n.8641-9T>C)
c.8287-9T>C (n.8287-9T>C)
c.6184-9T>C (n.6184-9T>C)
n.9134-9T>C
c.8770-9T>C (n.8770-9T>C)
c.7966-9T>C (n.7966-9T>C)
c.7771-9T>C (n.7771-9T>C)
n.9183-9T>C
 dbSNP
5g.37122498A=CA1539665398CPLANE1c.8959-10T= (n.8959-10T=)
n.820-10T=
c.8797-10T= (n.8797-10T=)
c.5971-10T= (n.5971-10T=)
n.342-714T=
c.5995-10T= (n.5995-10T=)
c.8956-10T= (n.8956-10T=)
c.8848-10T= (n.8848-10T=)
c.8830-10T= (n.8830-10T=)
c.5602-10T= (n.5602-10T=)
c.3532-10T= (n.3532-10T=)
c.8905-10T= (n.8905-10T=)
c.8851-10T= (n.8851-10T=)
c.8641-10T= (n.8641-10T=)
c.8287-10T= (n.8287-10T=)
c.6184-10T= (n.6184-10T=)
n.9134-10T=
c.8770-10T= (n.8770-10T=)
c.7966-10T= (n.7966-10T=)
c.7771-10T= (n.7771-10T=)
n.9183-10T=
5g.37122498A>GCA1539665399CPLANE1c.8959-10T>C (n.8959-10T>C)
n.820-10T>C
c.8797-10T>C (n.8797-10T>C)
c.5971-10T>C (n.5971-10T>C)
n.342-714T>C
c.5995-10T>C (n.5995-10T>C)
c.8956-10T>C (n.8956-10T>C)
c.8848-10T>C (n.8848-10T>C)
c.8830-10T>C (n.8830-10T>C)
c.5602-10T>C (n.5602-10T>C)
c.3532-10T>C (n.3532-10T>C)
c.8905-10T>C (n.8905-10T>C)
c.8851-10T>C (n.8851-10T>C)
c.8641-10T>C (n.8641-10T>C)
c.8287-10T>C (n.8287-10T>C)
c.6184-10T>C (n.6184-10T>C)
n.9134-10T>C
c.8770-10T>C (n.8770-10T>C)
c.7966-10T>C (n.7966-10T>C)
c.7771-10T>C (n.7771-10T>C)
n.9183-10T>C
 dbSNP
5g.37122499A>GCA2673579775CPLANE1c.8959-11T>C (n.8959-11T>C)
n.820-11T>C
c.8797-11T>C (n.8797-11T>C)
c.5971-11T>C (n.5971-11T>C)
n.342-715T>C
c.5995-11T>C (n.5995-11T>C)
c.8956-11T>C (n.8956-11T>C)
c.8848-11T>C (n.8848-11T>C)
c.8830-11T>C (n.8830-11T>C)
c.5602-11T>C (n.5602-11T>C)
c.3532-11T>C (n.3532-11T>C)
c.8905-11T>C (n.8905-11T>C)
c.8851-11T>C (n.8851-11T>C)
c.8641-11T>C (n.8641-11T>C)
c.8287-11T>C (n.8287-11T>C)
c.6184-11T>C (n.6184-11T>C)
n.9134-11T>C
c.8770-11T>C (n.8770-11T>C)
c.7966-11T>C (n.7966-11T>C)
c.7771-11T>C (n.7771-11T>C)
n.9183-11T>C
 gnomAD v4
5g.37122501T>ACA2765900733CPLANE1c.8959-13A>T (n.8959-13A>T)
n.820-13A>T
c.8797-13A>T (n.8797-13A>T)
c.5971-13A>T (n.5971-13A>T)
n.342-717A>T
c.5995-13A>T (n.5995-13A>T)
c.8956-13A>T (n.8956-13A>T)
c.8848-13A>T (n.8848-13A>T)
c.8830-13A>T (n.8830-13A>T)
c.5602-13A>T (n.5602-13A>T)
c.3532-13A>T (n.3532-13A>T)
c.8905-13A>T (n.8905-13A>T)
c.8851-13A>T (n.8851-13A>T)
c.8641-13A>T (n.8641-13A>T)
c.8287-13A>T (n.8287-13A>T)
c.6184-13A>T (n.6184-13A>T)
n.9134-13A>T
c.8770-13A>T (n.8770-13A>T)
c.7966-13A>T (n.7966-13A>T)
c.7771-13A>T (n.7771-13A>T)
n.9183-13A>T
5g.37122501T>CCA117057285CPLANE1c.8959-13A>G (n.8959-13A>G)
n.820-13A>G
c.8797-13A>G (n.8797-13A>G)
c.5971-13A>G (n.5971-13A>G)
n.342-717A>G
c.5995-13A>G (n.5995-13A>G)
c.8956-13A>G (n.8956-13A>G)
c.8848-13A>G (n.8848-13A>G)
c.8830-13A>G (n.8830-13A>G)
c.5602-13A>G (n.5602-13A>G)
c.3532-13A>G (n.3532-13A>G)
c.8905-13A>G (n.8905-13A>G)
c.8851-13A>G (n.8851-13A>G)
c.8641-13A>G (n.8641-13A>G)
c.8287-13A>G (n.8287-13A>G)
c.6184-13A>G (n.6184-13A>G)
n.9134-13A>G
c.8770-13A>G (n.8770-13A>G)
c.7966-13A>G (n.7966-13A>G)
c.7771-13A>G (n.7771-13A>G)
n.9183-13A>G
 dbSNP gnomAD v2 gnomAD v4
5g.37122501T=CA1539665400CPLANE1c.8959-13A= (n.8959-13A=)
n.820-13A=
c.8797-13A= (n.8797-13A=)
c.5971-13A= (n.5971-13A=)
n.342-717A=
c.5995-13A= (n.5995-13A=)
c.8956-13A= (n.8956-13A=)
c.8848-13A= (n.8848-13A=)
c.8830-13A= (n.8830-13A=)
c.5602-13A= (n.5602-13A=)
c.3532-13A= (n.3532-13A=)
c.8905-13A= (n.8905-13A=)
c.8851-13A= (n.8851-13A=)
c.8641-13A= (n.8641-13A=)
c.8287-13A= (n.8287-13A=)
c.6184-13A= (n.6184-13A=)
n.9134-13A=
c.8770-13A= (n.8770-13A=)
c.7966-13A= (n.7966-13A=)
c.7771-13A= (n.7771-13A=)
n.9183-13A=
5g.37122502_37122503delinsACCA1539665403CPLANE1c.8959-15_8959-14delinsGT (n.8959-15_8959-14delinsGT)
n.820-15_820-14delinsGT
c.8797-15_8797-14delinsGT (n.8797-15_8797-14delinsGT)
c.5971-15_5971-14delinsGT (n.5971-15_5971-14delinsGT)
n.342-719_342-718delinsGT
c.5995-15_5995-14delinsGT (n.5995-15_5995-14delinsGT)
c.8956-15_8956-14delinsGT (n.8956-15_8956-14delinsGT)
c.8848-15_8848-14delinsGT (n.8848-15_8848-14delinsGT)
c.8830-15_8830-14delinsGT (n.8830-15_8830-14delinsGT)
c.5602-15_5602-14delinsGT (n.5602-15_5602-14delinsGT)
c.3532-15_3532-14delinsGT (n.3532-15_3532-14delinsGT)
c.8905-15_8905-14delinsGT (n.8905-15_8905-14delinsGT)
c.8851-15_8851-14delinsGT (n.8851-15_8851-14delinsGT)
c.8641-15_8641-14delinsGT (n.8641-15_8641-14delinsGT)
c.8287-15_8287-14delinsGT (n.8287-15_8287-14delinsGT)
c.6184-15_6184-14delinsGT (n.6184-15_6184-14delinsGT)
n.9134-15_9134-14delinsGT
c.8770-15_8770-14delinsGT (n.8770-15_8770-14delinsGT)
c.7966-15_7966-14delinsGT (n.7966-15_7966-14delinsGT)
c.7771-15_7771-14delinsGT (n.7771-15_7771-14delinsGT)
n.9183-15_9183-14delinsGT
5g.37122503C=CA1539665405CPLANE1c.8959-15G= (n.8959-15G=)
n.820-15G=
c.8797-15G= (n.8797-15G=)
c.5971-15G= (n.5971-15G=)
n.342-719G=
c.5995-15G= (n.5995-15G=)
c.8956-15G= (n.8956-15G=)
c.8848-15G= (n.8848-15G=)
c.8830-15G= (n.8830-15G=)
c.5602-15G= (n.5602-15G=)
c.3532-15G= (n.3532-15G=)
c.8905-15G= (n.8905-15G=)
c.8851-15G= (n.8851-15G=)
c.8641-15G= (n.8641-15G=)
c.8287-15G= (n.8287-15G=)
c.6184-15G= (n.6184-15G=)
n.9134-15G=
c.8770-15G= (n.8770-15G=)
c.7966-15G= (n.7966-15G=)
c.7771-15G= (n.7771-15G=)
n.9183-15G=
5g.37122503C>TCA3237608CPLANE1c.8959-15G>A (n.8959-15G>A)
n.820-15G>A
c.8797-15G>A (n.8797-15G>A)
c.5971-15G>A (n.5971-15G>A)
n.342-719G>A
c.5995-15G>A (n.5995-15G>A)
c.8956-15G>A (n.8956-15G>A)
c.8848-15G>A (n.8848-15G>A)
c.8830-15G>A (n.8830-15G>A)
c.5602-15G>A (n.5602-15G>A)
c.3532-15G>A (n.3532-15G>A)
c.8905-15G>A (n.8905-15G>A)
c.8851-15G>A (n.8851-15G>A)
c.8641-15G>A (n.8641-15G>A)
c.8287-15G>A (n.8287-15G>A)
c.6184-15G>A (n.6184-15G>A)
n.9134-15G>A
c.8770-15G>A (n.8770-15G>A)
c.7966-15G>A (n.7966-15G>A)
c.7771-15G>A (n.7771-15G>A)
n.9183-15G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37122505delCA559021068CPLANE1c.8959-15del (n.8959-15del)
n.820-15del
c.8797-15del (n.8797-15del)
c.5971-15del (n.5971-15del)
n.342-719del
c.5995-15del (n.5995-15del)
c.8956-15del (n.8956-15del)
c.8848-15del (n.8848-15del)
c.8830-15del (n.8830-15del)
c.5602-15del (n.5602-15del)
c.3532-15del (n.3532-15del)
c.8905-15del (n.8905-15del)
c.8851-15del (n.8851-15del)
c.8641-15del (n.8641-15del)
c.8287-15del (n.8287-15del)
c.6184-15del (n.6184-15del)
n.9134-15del
c.8770-15del (n.8770-15del)
c.7966-15del (n.7966-15del)
c.7771-15del (n.7771-15del)
n.9183-15del
 dbSNP gnomAD v2 gnomAD v4
5g.37122504C>ACA1539665408CPLANE1c.8959-16G>T (n.8959-16G>T)
n.820-16G>T
c.8797-16G>T (n.8797-16G>T)
c.5971-16G>T (n.5971-16G>T)
n.342-720G>T
c.5995-16G>T (n.5995-16G>T)
c.8956-16G>T (n.8956-16G>T)
c.8848-16G>T (n.8848-16G>T)
c.8830-16G>T (n.8830-16G>T)
c.5602-16G>T (n.5602-16G>T)
c.3532-16G>T (n.3532-16G>T)
c.8905-16G>T (n.8905-16G>T)
c.8851-16G>T (n.8851-16G>T)
c.8641-16G>T (n.8641-16G>T)
c.8287-16G>T (n.8287-16G>T)
c.6184-16G>T (n.6184-16G>T)
n.9134-16G>T
c.8770-16G>T (n.8770-16G>T)
c.7966-16G>T (n.7966-16G>T)
c.7771-16G>T (n.7771-16G>T)
n.9183-16G>T
 dbSNP gnomAD v4
5g.37122504C=CA1539665407CPLANE1c.8959-16G= (n.8959-16G=)
n.820-16G=
c.8797-16G= (n.8797-16G=)
c.5971-16G= (n.5971-16G=)
n.342-720G=
c.5995-16G= (n.5995-16G=)
c.8956-16G= (n.8956-16G=)
c.8848-16G= (n.8848-16G=)
c.8830-16G= (n.8830-16G=)
c.5602-16G= (n.5602-16G=)
c.3532-16G= (n.3532-16G=)
c.8905-16G= (n.8905-16G=)
c.8851-16G= (n.8851-16G=)
c.8641-16G= (n.8641-16G=)
c.8287-16G= (n.8287-16G=)
c.6184-16G= (n.6184-16G=)
n.9134-16G=
c.8770-16G= (n.8770-16G=)
c.7966-16G= (n.7966-16G=)
c.7771-16G= (n.7771-16G=)
n.9183-16G=
5g.37122504C>TCA559021070CPLANE1c.8959-16G>A (n.8959-16G>A)
n.820-16G>A
c.8797-16G>A (n.8797-16G>A)
c.5971-16G>A (n.5971-16G>A)
n.342-720G>A
c.5995-16G>A (n.5995-16G>A)
c.8956-16G>A (n.8956-16G>A)
c.8848-16G>A (n.8848-16G>A)
c.8830-16G>A (n.8830-16G>A)
c.5602-16G>A (n.5602-16G>A)
c.3532-16G>A (n.3532-16G>A)
c.8905-16G>A (n.8905-16G>A)
c.8851-16G>A (n.8851-16G>A)
c.8641-16G>A (n.8641-16G>A)
c.8287-16G>A (n.8287-16G>A)
c.6184-16G>A (n.6184-16G>A)
n.9134-16G>A
c.8770-16G>A (n.8770-16G>A)
c.7966-16G>A (n.7966-16G>A)
c.7771-16G>A (n.7771-16G>A)
n.9183-16G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.37122505C>ACA2578290244CPLANE1c.8959-17G>T (n.8959-17G>T)
n.820-17G>T
c.8797-17G>T (n.8797-17G>T)
c.5971-17G>T (n.5971-17G>T)
n.342-721G>T
c.5995-17G>T (n.5995-17G>T)
c.8956-17G>T (n.8956-17G>T)
c.8848-17G>T (n.8848-17G>T)
c.8830-17G>T (n.8830-17G>T)
c.5602-17G>T (n.5602-17G>T)
c.3532-17G>T (n.3532-17G>T)
c.8905-17G>T (n.8905-17G>T)
c.8851-17G>T (n.8851-17G>T)
c.8641-17G>T (n.8641-17G>T)
c.8287-17G>T (n.8287-17G>T)
c.6184-17G>T (n.6184-17G>T)
n.9134-17G>T
c.8770-17G>T (n.8770-17G>T)
c.7966-17G>T (n.7966-17G>T)
c.7771-17G>T (n.7771-17G>T)
n.9183-17G>T
5g.37122506delCA2673579776CPLANE1c.8959-18del (n.8959-18del)
n.820-18del
c.8797-18del (n.8797-18del)
c.5971-18del (n.5971-18del)
n.342-722del
c.5995-18del (n.5995-18del)
c.8956-18del (n.8956-18del)
c.8848-18del (n.8848-18del)
c.8830-18del (n.8830-18del)
c.5602-18del (n.5602-18del)
c.3532-18del (n.3532-18del)
c.8905-18del (n.8905-18del)
c.8851-18del (n.8851-18del)
c.8641-18del (n.8641-18del)
c.8287-18del (n.8287-18del)
c.6184-18del (n.6184-18del)
n.9134-18del
c.8770-18del (n.8770-18del)
c.7966-18del (n.7966-18del)
c.7771-18del (n.7771-18del)
n.9183-18del
 gnomAD v4
5g.37122506A>GCA2673579777CPLANE1c.8959-18T>C (n.8959-18T>C)
n.820-18T>C
c.8797-18T>C (n.8797-18T>C)
c.5971-18T>C (n.5971-18T>C)
n.342-722T>C
c.5995-18T>C (n.5995-18T>C)
c.8956-18T>C (n.8956-18T>C)
c.8848-18T>C (n.8848-18T>C)
c.8830-18T>C (n.8830-18T>C)
c.5602-18T>C (n.5602-18T>C)
c.3532-18T>C (n.3532-18T>C)
c.8905-18T>C (n.8905-18T>C)
c.8851-18T>C (n.8851-18T>C)
c.8641-18T>C (n.8641-18T>C)
c.8287-18T>C (n.8287-18T>C)
c.6184-18T>C (n.6184-18T>C)
n.9134-18T>C
c.8770-18T>C (n.8770-18T>C)
c.7966-18T>C (n.7966-18T>C)
c.7771-18T>C (n.7771-18T>C)
n.9183-18T>C
 gnomAD v4
5g.37122507G>TCA2673579778CPLANE1c.8959-19C>A (n.8959-19C>A)
n.820-19C>A
c.8797-19C>A (n.8797-19C>A)
c.5971-19C>A (n.5971-19C>A)
n.342-723C>A
c.5995-19C>A (n.5995-19C>A)
c.8956-19C>A (n.8956-19C>A)
c.8848-19C>A (n.8848-19C>A)
c.8830-19C>A (n.8830-19C>A)
c.5602-19C>A (n.5602-19C>A)
c.3532-19C>A (n.3532-19C>A)
c.8905-19C>A (n.8905-19C>A)
c.8851-19C>A (n.8851-19C>A)
c.8641-19C>A (n.8641-19C>A)
c.8287-19C>A (n.8287-19C>A)
c.6184-19C>A (n.6184-19C>A)
n.9134-19C>A
c.8770-19C>A (n.8770-19C>A)
c.7966-19C>A (n.7966-19C>A)
c.7771-19C>A (n.7771-19C>A)
n.9183-19C>A
 gnomAD v4
5g.37122510G>CCA2673579779CPLANE1c.8959-22C>G (n.8959-22C>G)
n.820-22C>G
c.8797-22C>G (n.8797-22C>G)
c.5971-22C>G (n.5971-22C>G)
n.342-726C>G
c.5995-22C>G (n.5995-22C>G)
c.8956-22C>G (n.8956-22C>G)
c.8848-22C>G (n.8848-22C>G)
c.8830-22C>G (n.8830-22C>G)
c.5602-22C>G (n.5602-22C>G)
c.3532-22C>G (n.3532-22C>G)
c.8905-22C>G (n.8905-22C>G)
c.8851-22C>G (n.8851-22C>G)
c.8641-22C>G (n.8641-22C>G)
c.8287-22C>G (n.8287-22C>G)
c.6184-22C>G (n.6184-22C>G)
n.9134-22C>G
c.8770-22C>G (n.8770-22C>G)
c.7966-22C>G (n.7966-22C>G)
c.7771-22C>G (n.7771-22C>G)
n.9183-22C>G
 gnomAD v4
5g.37122510G>TCA2673579780CPLANE1c.8959-22C>A (n.8959-22C>A)
n.820-22C>A
c.8797-22C>A (n.8797-22C>A)
c.5971-22C>A (n.5971-22C>A)
n.342-726C>A
c.5995-22C>A (n.5995-22C>A)
c.8956-22C>A (n.8956-22C>A)
c.8848-22C>A (n.8848-22C>A)
c.8830-22C>A (n.8830-22C>A)
c.5602-22C>A (n.5602-22C>A)
c.3532-22C>A (n.3532-22C>A)
c.8905-22C>A (n.8905-22C>A)
c.8851-22C>A (n.8851-22C>A)
c.8641-22C>A (n.8641-22C>A)
c.8287-22C>A (n.8287-22C>A)
c.6184-22C>A (n.6184-22C>A)
n.9134-22C>A
c.8770-22C>A (n.8770-22C>A)
c.7966-22C>A (n.7966-22C>A)
c.7771-22C>A (n.7771-22C>A)
n.9183-22C>A
 gnomAD v4
5g.37122511G>ACA559021071CPLANE1c.8959-23C>T (n.8959-23C>T)
n.820-23C>T
c.8797-23C>T (n.8797-23C>T)
c.5971-23C>T (n.5971-23C>T)
n.342-727C>T
c.5995-23C>T (n.5995-23C>T)
c.8956-23C>T (n.8956-23C>T)
c.8848-23C>T (n.8848-23C>T)
c.8830-23C>T (n.8830-23C>T)
c.5602-23C>T (n.5602-23C>T)
c.3532-23C>T (n.3532-23C>T)
c.8905-23C>T (n.8905-23C>T)
c.8851-23C>T (n.8851-23C>T)
c.8641-23C>T (n.8641-23C>T)
c.8287-23C>T (n.8287-23C>T)
c.6184-23C>T (n.6184-23C>T)
n.9134-23C>T
c.8770-23C>T (n.8770-23C>T)
c.7966-23C>T (n.7966-23C>T)
c.7771-23C>T (n.7771-23C>T)
n.9183-23C>T
 dbSNP gnomAD v2 gnomAD v4
5g.37122511G=CA1539665409CPLANE1c.8959-23C= (n.8959-23C=)
n.820-23C=
c.8797-23C= (n.8797-23C=)
c.5971-23C= (n.5971-23C=)
n.342-727C=
c.5995-23C= (n.5995-23C=)
c.8956-23C= (n.8956-23C=)
c.8848-23C= (n.8848-23C=)
c.8830-23C= (n.8830-23C=)
c.5602-23C= (n.5602-23C=)
c.3532-23C= (n.3532-23C=)
c.8905-23C= (n.8905-23C=)
c.8851-23C= (n.8851-23C=)
c.8641-23C= (n.8641-23C=)
c.8287-23C= (n.8287-23C=)
c.6184-23C= (n.6184-23C=)
n.9134-23C=
c.8770-23C= (n.8770-23C=)
c.7966-23C= (n.7966-23C=)
c.7771-23C= (n.7771-23C=)
n.9183-23C=
5g.37122511G>TCA2673579781CPLANE1c.8959-23C>A (n.8959-23C>A)
n.820-23C>A
c.8797-23C>A (n.8797-23C>A)
c.5971-23C>A (n.5971-23C>A)
n.342-727C>A
c.5995-23C>A (n.5995-23C>A)
c.8956-23C>A (n.8956-23C>A)
c.8848-23C>A (n.8848-23C>A)
c.8830-23C>A (n.8830-23C>A)
c.5602-23C>A (n.5602-23C>A)
c.3532-23C>A (n.3532-23C>A)
c.8905-23C>A (n.8905-23C>A)
c.8851-23C>A (n.8851-23C>A)
c.8641-23C>A (n.8641-23C>A)
c.8287-23C>A (n.8287-23C>A)
c.6184-23C>A (n.6184-23C>A)
n.9134-23C>A
c.8770-23C>A (n.8770-23C>A)
c.7966-23C>A (n.7966-23C>A)
c.7771-23C>A (n.7771-23C>A)
n.9183-23C>A
 gnomAD v4
5g.37122512T>CCA2673579783CPLANE1c.8959-24A>G (n.8959-24A>G)
n.820-24A>G
c.8797-24A>G (n.8797-24A>G)
c.5971-24A>G (n.5971-24A>G)
n.342-728A>G
c.5995-24A>G (n.5995-24A>G)
c.8956-24A>G (n.8956-24A>G)
c.8848-24A>G (n.8848-24A>G)
c.8830-24A>G (n.8830-24A>G)
c.5602-24A>G (n.5602-24A>G)
c.3532-24A>G (n.3532-24A>G)
c.8905-24A>G (n.8905-24A>G)
c.8851-24A>G (n.8851-24A>G)
c.8641-24A>G (n.8641-24A>G)
c.8287-24A>G (n.8287-24A>G)
c.6184-24A>G (n.6184-24A>G)
n.9134-24A>G
c.8770-24A>G (n.8770-24A>G)
c.7966-24A>G (n.7966-24A>G)
c.7771-24A>G (n.7771-24A>G)
n.9183-24A>G
 gnomAD v4
5g.37122512_37122520delCA2673579782CPLANE1c.8959-32_8959-24del (n.8959-32_8959-24del)
n.820-32_820-24del
c.8797-32_8797-24del (n.8797-32_8797-24del)
c.5971-32_5971-24del (n.5971-32_5971-24del)
n.342-736_342-728del
c.5995-32_5995-24del (n.5995-32_5995-24del)
c.8956-32_8956-24del (n.8956-32_8956-24del)
c.8848-32_8848-24del (n.8848-32_8848-24del)
c.8830-32_8830-24del (n.8830-32_8830-24del)
c.5602-32_5602-24del (n.5602-32_5602-24del)
c.3532-32_3532-24del (n.3532-32_3532-24del)
c.8905-32_8905-24del (n.8905-32_8905-24del)
c.8851-32_8851-24del (n.8851-32_8851-24del)
c.8641-32_8641-24del (n.8641-32_8641-24del)
c.8287-32_8287-24del (n.8287-32_8287-24del)
c.6184-32_6184-24del (n.6184-32_6184-24del)
n.9134-32_9134-24del
c.8770-32_8770-24del (n.8770-32_8770-24del)
c.7966-32_7966-24del (n.7966-32_7966-24del)
c.7771-32_7771-24del (n.7771-32_7771-24del)
n.9183-32_9183-24del
 gnomAD v4
5g.37122514C=CA1539665411CPLANE1c.8959-26G= (n.8959-26G=)
n.820-26G=
c.8797-26G= (n.8797-26G=)
c.5971-26G= (n.5971-26G=)
n.342-730G=
c.5995-26G= (n.5995-26G=)
c.8956-26G= (n.8956-26G=)
c.8848-26G= (n.8848-26G=)
c.8830-26G= (n.8830-26G=)
c.5602-26G= (n.5602-26G=)
c.3532-26G= (n.3532-26G=)
c.8905-26G= (n.8905-26G=)
c.8851-26G= (n.8851-26G=)
c.8641-26G= (n.8641-26G=)
c.8287-26G= (n.8287-26G=)
c.6184-26G= (n.6184-26G=)
n.9134-26G=
c.8770-26G= (n.8770-26G=)
c.7966-26G= (n.7966-26G=)
c.7771-26G= (n.7771-26G=)
n.9183-26G=
5g.37122514C>TCA117057316CPLANE1c.8959-26G>A (n.8959-26G>A)
n.820-26G>A
c.8797-26G>A (n.8797-26G>A)
c.5971-26G>A (n.5971-26G>A)
n.342-730G>A
c.5995-26G>A (n.5995-26G>A)
c.8956-26G>A (n.8956-26G>A)
c.8848-26G>A (n.8848-26G>A)
c.8830-26G>A (n.8830-26G>A)
c.5602-26G>A (n.5602-26G>A)
c.3532-26G>A (n.3532-26G>A)
c.8905-26G>A (n.8905-26G>A)
c.8851-26G>A (n.8851-26G>A)
c.8641-26G>A (n.8641-26G>A)
c.8287-26G>A (n.8287-26G>A)
c.6184-26G>A (n.6184-26G>A)
n.9134-26G>A
c.8770-26G>A (n.8770-26G>A)
c.7966-26G>A (n.7966-26G>A)
c.7771-26G>A (n.7771-26G>A)
n.9183-26G>A
 dbSNP
5g.37122515A>TCA2673579784CPLANE1c.8959-27T>A (n.8959-27T>A)
n.820-27T>A
c.8797-27T>A (n.8797-27T>A)
c.5971-27T>A (n.5971-27T>A)
n.342-731T>A
c.5995-27T>A (n.5995-27T>A)
c.8956-27T>A (n.8956-27T>A)
c.8848-27T>A (n.8848-27T>A)
c.8830-27T>A (n.8830-27T>A)
c.5602-27T>A (n.5602-27T>A)
c.3532-27T>A (n.3532-27T>A)
c.8905-27T>A (n.8905-27T>A)
c.8851-27T>A (n.8851-27T>A)
c.8641-27T>A (n.8641-27T>A)
c.8287-27T>A (n.8287-27T>A)
c.6184-27T>A (n.6184-27T>A)
n.9134-27T>A
c.8770-27T>A (n.8770-27T>A)
c.7966-27T>A (n.7966-27T>A)
c.7771-27T>A (n.7771-27T>A)
n.9183-27T>A
 gnomAD v4
5g.37122516T>CCA1075106957CPLANE1c.8959-28A>G (n.8959-28A>G)
n.820-28A>G
c.8797-28A>G (n.8797-28A>G)
c.5971-28A>G (n.5971-28A>G)
n.342-732A>G
c.5995-28A>G (n.5995-28A>G)
c.8956-28A>G (n.8956-28A>G)
c.8848-28A>G (n.8848-28A>G)
c.8830-28A>G (n.8830-28A>G)
c.5602-28A>G (n.5602-28A>G)
c.3532-28A>G (n.3532-28A>G)
c.8905-28A>G (n.8905-28A>G)
c.8851-28A>G (n.8851-28A>G)
c.8641-28A>G (n.8641-28A>G)
c.8287-28A>G (n.8287-28A>G)
c.6184-28A>G (n.6184-28A>G)
n.9134-28A>G
c.8770-28A>G (n.8770-28A>G)
c.7966-28A>G (n.7966-28A>G)
c.7771-28A>G (n.7771-28A>G)
n.9183-28A>G
 dbSNP gnomAD v3 gnomAD v4
5g.37122516T=CA1539665413CPLANE1c.8959-28A= (n.8959-28A=)
n.820-28A=
c.8797-28A= (n.8797-28A=)
c.5971-28A= (n.5971-28A=)
n.342-732A=
c.5995-28A= (n.5995-28A=)
c.8956-28A= (n.8956-28A=)
c.8848-28A= (n.8848-28A=)
c.8830-28A= (n.8830-28A=)
c.5602-28A= (n.5602-28A=)
c.3532-28A= (n.3532-28A=)
c.8905-28A= (n.8905-28A=)
c.8851-28A= (n.8851-28A=)
c.8641-28A= (n.8641-28A=)
c.8287-28A= (n.8287-28A=)
c.6184-28A= (n.6184-28A=)
n.9134-28A=
c.8770-28A= (n.8770-28A=)
c.7966-28A= (n.7966-28A=)
c.7771-28A= (n.7771-28A=)
n.9183-28A=
5g.37122517T>CCA1075106960CPLANE1c.8959-29A>G (n.8959-29A>G)
n.820-29A>G
c.8797-29A>G (n.8797-29A>G)
c.5971-29A>G (n.5971-29A>G)
n.342-733A>G
c.5995-29A>G (n.5995-29A>G)
c.8956-29A>G (n.8956-29A>G)
c.8848-29A>G (n.8848-29A>G)
c.8830-29A>G (n.8830-29A>G)
c.5602-29A>G (n.5602-29A>G)
c.3532-29A>G (n.3532-29A>G)
c.8905-29A>G (n.8905-29A>G)
c.8851-29A>G (n.8851-29A>G)
c.8641-29A>G (n.8641-29A>G)
c.8287-29A>G (n.8287-29A>G)
c.6184-29A>G (n.6184-29A>G)
n.9134-29A>G
c.8770-29A>G (n.8770-29A>G)
c.7966-29A>G (n.7966-29A>G)
c.7771-29A>G (n.7771-29A>G)
n.9183-29A>G
 dbSNP gnomAD v3 gnomAD v4
5g.37122517T=CA1539665414CPLANE1c.8959-29A= (n.8959-29A=)
n.820-29A=
c.8797-29A= (n.8797-29A=)
c.5971-29A= (n.5971-29A=)
n.342-733A=
c.5995-29A= (n.5995-29A=)
c.8956-29A= (n.8956-29A=)
c.8848-29A= (n.8848-29A=)
c.8830-29A= (n.8830-29A=)
c.5602-29A= (n.5602-29A=)
c.3532-29A= (n.3532-29A=)
c.8905-29A= (n.8905-29A=)
c.8851-29A= (n.8851-29A=)
c.8641-29A= (n.8641-29A=)
c.8287-29A= (n.8287-29A=)
c.6184-29A= (n.6184-29A=)
n.9134-29A=
c.8770-29A= (n.8770-29A=)
c.7966-29A= (n.7966-29A=)
c.7771-29A= (n.7771-29A=)
n.9183-29A=
5g.37122518A=CA1539665415CPLANE1c.8959-30T= (n.8959-30T=)
n.820-30T=
c.8797-30T= (n.8797-30T=)
c.5971-30T= (n.5971-30T=)
n.342-734T=
c.5995-30T= (n.5995-30T=)
c.8956-30T= (n.8956-30T=)
c.8848-30T= (n.8848-30T=)
c.8830-30T= (n.8830-30T=)
c.5602-30T= (n.5602-30T=)
c.3532-30T= (n.3532-30T=)
c.8905-30T= (n.8905-30T=)
c.8851-30T= (n.8851-30T=)
c.8641-30T= (n.8641-30T=)
c.8287-30T= (n.8287-30T=)
c.6184-30T= (n.6184-30T=)
n.9134-30T=
c.8770-30T= (n.8770-30T=)
c.7966-30T= (n.7966-30T=)
c.7771-30T= (n.7771-30T=)
n.9183-30T=
5g.37122518A>GCA559021072CPLANE1c.8959-30T>C (n.8959-30T>C)
n.820-30T>C
c.8797-30T>C (n.8797-30T>C)
c.5971-30T>C (n.5971-30T>C)
n.342-734T>C
c.5995-30T>C (n.5995-30T>C)
c.8956-30T>C (n.8956-30T>C)
c.8848-30T>C (n.8848-30T>C)
c.8830-30T>C (n.8830-30T>C)
c.5602-30T>C (n.5602-30T>C)
c.3532-30T>C (n.3532-30T>C)
c.8905-30T>C (n.8905-30T>C)
c.8851-30T>C (n.8851-30T>C)
c.8641-30T>C (n.8641-30T>C)
c.8287-30T>C (n.8287-30T>C)
c.6184-30T>C (n.6184-30T>C)
n.9134-30T>C
c.8770-30T>C (n.8770-30T>C)
c.7966-30T>C (n.7966-30T>C)
c.7771-30T>C (n.7771-30T>C)
n.9183-30T>C
 dbSNP gnomAD v2 gnomAD v4
5g.37122519T>CCA3237609CPLANE1c.8959-31A>G (n.8959-31A>G)
n.820-31A>G
c.8797-31A>G (n.8797-31A>G)
c.5971-31A>G (n.5971-31A>G)
n.342-735A>G
c.5995-31A>G (n.5995-31A>G)
c.8956-31A>G (n.8956-31A>G)
c.8848-31A>G (n.8848-31A>G)
c.8830-31A>G (n.8830-31A>G)
c.5602-31A>G (n.5602-31A>G)
c.3532-31A>G (n.3532-31A>G)
c.8905-31A>G (n.8905-31A>G)
c.8851-31A>G (n.8851-31A>G)
c.8641-31A>G (n.8641-31A>G)
c.8287-31A>G (n.8287-31A>G)
c.6184-31A>G (n.6184-31A>G)
n.9134-31A>G
c.8770-31A>G (n.8770-31A>G)
c.7966-31A>G (n.7966-31A>G)
c.7771-31A>G (n.7771-31A>G)
n.9183-31A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37122519T=CA1539665416CPLANE1c.8959-31A= (n.8959-31A=)
n.820-31A=
c.8797-31A= (n.8797-31A=)
c.5971-31A= (n.5971-31A=)
n.342-735A=
c.5995-31A= (n.5995-31A=)
c.8956-31A= (n.8956-31A=)
c.8848-31A= (n.8848-31A=)
c.8830-31A= (n.8830-31A=)
c.5602-31A= (n.5602-31A=)
c.3532-31A= (n.3532-31A=)
c.8905-31A= (n.8905-31A=)
c.8851-31A= (n.8851-31A=)
c.8641-31A= (n.8641-31A=)
c.8287-31A= (n.8287-31A=)
c.6184-31A= (n.6184-31A=)
n.9134-31A=
c.8770-31A= (n.8770-31A=)
c.7966-31A= (n.7966-31A=)
c.7771-31A= (n.7771-31A=)
n.9183-31A=
5g.37122521G>TCA2673579785CPLANE1c.8959-33C>A (n.8959-33C>A)
n.820-33C>A
c.8797-33C>A (n.8797-33C>A)
c.5971-33C>A (n.5971-33C>A)
n.342-737C>A
c.5995-33C>A (n.5995-33C>A)
c.8956-33C>A (n.8956-33C>A)
c.8848-33C>A (n.8848-33C>A)
c.8830-33C>A (n.8830-33C>A)
c.5602-33C>A (n.5602-33C>A)
c.3532-33C>A (n.3532-33C>A)
c.8905-33C>A (n.8905-33C>A)
c.8851-33C>A (n.8851-33C>A)
c.8641-33C>A (n.8641-33C>A)
c.8287-33C>A (n.8287-33C>A)
c.6184-33C>A (n.6184-33C>A)
n.9134-33C>A
c.8770-33C>A (n.8770-33C>A)
c.7966-33C>A (n.7966-33C>A)
c.7771-33C>A (n.7771-33C>A)
n.9183-33C>A
 gnomAD v4
5g.37122522T>CCA2578290245CPLANE1c.8959-34A>G (n.8959-34A>G)
n.820-34A>G
c.8797-34A>G (n.8797-34A>G)
c.5971-34A>G (n.5971-34A>G)
n.342-738A>G
c.5995-34A>G (n.5995-34A>G)
c.8956-34A>G (n.8956-34A>G)
c.8848-34A>G (n.8848-34A>G)
c.8830-34A>G (n.8830-34A>G)
c.5602-34A>G (n.5602-34A>G)
c.3532-34A>G (n.3532-34A>G)
c.8905-34A>G (n.8905-34A>G)
c.8851-34A>G (n.8851-34A>G)
c.8641-34A>G (n.8641-34A>G)
c.8287-34A>G (n.8287-34A>G)
c.6184-34A>G (n.6184-34A>G)
n.9134-34A>G
c.8770-34A>G (n.8770-34A>G)
c.7966-34A>G (n.7966-34A>G)
c.7771-34A>G (n.7771-34A>G)
n.9183-34A>G
 gnomAD v4
5g.37122522_37122525delinsTTCACA1539665417CPLANE1c.8959-37_8959-34delinsTGAA (n.8959-37_8959-34delinsTGAA)
n.820-37_820-34delinsTGAA
c.8797-37_8797-34delinsTGAA (n.8797-37_8797-34delinsTGAA)
c.5971-37_5971-34delinsTGAA (n.5971-37_5971-34delinsTGAA)
n.342-741_342-738delinsTGAA
c.5995-37_5995-34delinsTGAA (n.5995-37_5995-34delinsTGAA)
c.8956-37_8956-34delinsTGAA (n.8956-37_8956-34delinsTGAA)
c.8848-37_8848-34delinsTGAA (n.8848-37_8848-34delinsTGAA)
c.8830-37_8830-34delinsTGAA (n.8830-37_8830-34delinsTGAA)
c.5602-37_5602-34delinsTGAA (n.5602-37_5602-34delinsTGAA)
c.3532-37_3532-34delinsTGAA (n.3532-37_3532-34delinsTGAA)
c.8905-37_8905-34delinsTGAA (n.8905-37_8905-34delinsTGAA)
c.8851-37_8851-34delinsTGAA (n.8851-37_8851-34delinsTGAA)
c.8641-37_8641-34delinsTGAA (n.8641-37_8641-34delinsTGAA)
c.8287-37_8287-34delinsTGAA (n.8287-37_8287-34delinsTGAA)
c.6184-37_6184-34delinsTGAA (n.6184-37_6184-34delinsTGAA)
n.9134-37_9134-34delinsTGAA
c.8770-37_8770-34delinsTGAA (n.8770-37_8770-34delinsTGAA)
c.7966-37_7966-34delinsTGAA (n.7966-37_7966-34delinsTGAA)
c.7771-37_7771-34delinsTGAA (n.7771-37_7771-34delinsTGAA)
n.9183-37_9183-34delinsTGAA
5g.37122523_37122525delCA559021075CPLANE1c.8959-37_8959-35del (n.8959-37_8959-35del)
n.820-37_820-35del
c.8797-37_8797-35del (n.8797-37_8797-35del)
c.5971-37_5971-35del (n.5971-37_5971-35del)
n.342-741_342-739del
c.5995-37_5995-35del (n.5995-37_5995-35del)
c.8956-37_8956-35del (n.8956-37_8956-35del)
c.8848-37_8848-35del (n.8848-37_8848-35del)
c.8830-37_8830-35del (n.8830-37_8830-35del)
c.5602-37_5602-35del (n.5602-37_5602-35del)
c.3532-37_3532-35del (n.3532-37_3532-35del)
c.8905-37_8905-35del (n.8905-37_8905-35del)
c.8851-37_8851-35del (n.8851-37_8851-35del)
c.8641-37_8641-35del (n.8641-37_8641-35del)
c.8287-37_8287-35del (n.8287-37_8287-35del)
c.6184-37_6184-35del (n.6184-37_6184-35del)
n.9134-37_9134-35del
c.8770-37_8770-35del (n.8770-37_8770-35del)
c.7966-37_7966-35del (n.7966-37_7966-35del)
c.7771-37_7771-35del (n.7771-37_7771-35del)
n.9183-37_9183-35del
 dbSNP gnomAD v2 gnomAD v4
5g.37122524C>ACA915116396CPLANE1c.8959-36G>T (n.8959-36G>T)
n.820-36G>T
c.8797-36G>T (n.8797-36G>T)
c.5971-36G>T (n.5971-36G>T)
n.342-740G>T
c.5995-36G>T (n.5995-36G>T)
c.8956-36G>T (n.8956-36G>T)
c.8848-36G>T (n.8848-36G>T)
c.8830-36G>T (n.8830-36G>T)
c.5602-36G>T (n.5602-36G>T)
c.3532-36G>T (n.3532-36G>T)
c.8905-36G>T (n.8905-36G>T)
c.8851-36G>T (n.8851-36G>T)
c.8641-36G>T (n.8641-36G>T)
c.8287-36G>T (n.8287-36G>T)
c.6184-36G>T (n.6184-36G>T)
n.9134-36G>T
c.8770-36G>T (n.8770-36G>T)
c.7966-36G>T (n.7966-36G>T)
c.7771-36G>T (n.7771-36G>T)
n.9183-36G>T
 dbSNP gnomAD v2 gnomAD v4
5g.37122524C=CA1539665418CPLANE1c.8959-36G= (n.8959-36G=)
n.820-36G=
c.8797-36G= (n.8797-36G=)
c.5971-36G= (n.5971-36G=)
n.342-740G=
c.5995-36G= (n.5995-36G=)
c.8956-36G= (n.8956-36G=)
c.8848-36G= (n.8848-36G=)
c.8830-36G= (n.8830-36G=)
c.5602-36G= (n.5602-36G=)
c.3532-36G= (n.3532-36G=)
c.8905-36G= (n.8905-36G=)
c.8851-36G= (n.8851-36G=)
c.8641-36G= (n.8641-36G=)
c.8287-36G= (n.8287-36G=)
c.6184-36G= (n.6184-36G=)
n.9134-36G=
c.8770-36G= (n.8770-36G=)
c.7966-36G= (n.7966-36G=)
c.7771-36G= (n.7771-36G=)
n.9183-36G=
5g.37122524C>TCA2673579786CPLANE1c.8959-36G>A (n.8959-36G>A)
n.820-36G>A
c.8797-36G>A (n.8797-36G>A)
c.5971-36G>A (n.5971-36G>A)
n.342-740G>A
c.5995-36G>A (n.5995-36G>A)
c.8956-36G>A (n.8956-36G>A)
c.8848-36G>A (n.8848-36G>A)
c.8830-36G>A (n.8830-36G>A)
c.5602-36G>A (n.5602-36G>A)
c.3532-36G>A (n.3532-36G>A)
c.8905-36G>A (n.8905-36G>A)
c.8851-36G>A (n.8851-36G>A)
c.8641-36G>A (n.8641-36G>A)
c.8287-36G>A (n.8287-36G>A)
c.6184-36G>A (n.6184-36G>A)
n.9134-36G>A
c.8770-36G>A (n.8770-36G>A)
c.7966-36G>A (n.7966-36G>A)
c.7771-36G>A (n.7771-36G>A)
n.9183-36G>A
 gnomAD v4
5g.37122525A=CA1539665420CPLANE1c.8959-37T= (n.8959-37T=)
n.820-37T=
c.8797-37T= (n.8797-37T=)
c.5971-37T= (n.5971-37T=)
n.342-741T=
c.5995-37T= (n.5995-37T=)
c.8956-37T= (n.8956-37T=)
c.8848-37T= (n.8848-37T=)
c.8830-37T= (n.8830-37T=)
c.5602-37T= (n.5602-37T=)
c.3532-37T= (n.3532-37T=)
c.8905-37T= (n.8905-37T=)
c.8851-37T= (n.8851-37T=)
c.8641-37T= (n.8641-37T=)
c.8287-37T= (n.8287-37T=)
c.6184-37T= (n.6184-37T=)
n.9134-37T=
c.8770-37T= (n.8770-37T=)
c.7966-37T= (n.7966-37T=)
c.7771-37T= (n.7771-37T=)
n.9183-37T=
5g.37122525A>CCA559021077CPLANE1c.8959-37T>G (n.8959-37T>G)
n.820-37T>G
c.8797-37T>G (n.8797-37T>G)
c.5971-37T>G (n.5971-37T>G)
n.342-741T>G
c.5995-37T>G (n.5995-37T>G)
c.8956-37T>G (n.8956-37T>G)
c.8848-37T>G (n.8848-37T>G)
c.8830-37T>G (n.8830-37T>G)
c.5602-37T>G (n.5602-37T>G)
c.3532-37T>G (n.3532-37T>G)
c.8905-37T>G (n.8905-37T>G)
c.8851-37T>G (n.8851-37T>G)
c.8641-37T>G (n.8641-37T>G)
c.8287-37T>G (n.8287-37T>G)
c.6184-37T>G (n.6184-37T>G)
n.9134-37T>G
c.8770-37T>G (n.8770-37T>G)
c.7966-37T>G (n.7966-37T>G)
c.7771-37T>G (n.7771-37T>G)
n.9183-37T>G
 dbSNP gnomAD v2 gnomAD v4
5g.37122526A=CA1539665421CPLANE1c.8959-38T= (n.8959-38T=)
n.820-38T=
c.8797-38T= (n.8797-38T=)
c.5971-38T= (n.5971-38T=)
n.342-742T=
c.5995-38T= (n.5995-38T=)
c.8956-38T= (n.8956-38T=)
c.8848-38T= (n.8848-38T=)
c.8830-38T= (n.8830-38T=)
c.5602-38T= (n.5602-38T=)
c.3532-38T= (n.3532-38T=)
c.8905-38T= (n.8905-38T=)
c.8851-38T= (n.8851-38T=)
c.8641-38T= (n.8641-38T=)
c.8287-38T= (n.8287-38T=)
c.6184-38T= (n.6184-38T=)
n.9134-38T=
c.8770-38T= (n.8770-38T=)
c.7966-38T= (n.7966-38T=)
c.7771-38T= (n.7771-38T=)
n.9183-38T=
5g.37122526A>GCA3237610CPLANE1c.8959-38T>C (n.8959-38T>C)
n.820-38T>C
c.8797-38T>C (n.8797-38T>C)
c.5971-38T>C (n.5971-38T>C)
n.342-742T>C
c.5995-38T>C (n.5995-38T>C)
c.8956-38T>C (n.8956-38T>C)
c.8848-38T>C (n.8848-38T>C)
c.8830-38T>C (n.8830-38T>C)
c.5602-38T>C (n.5602-38T>C)
c.3532-38T>C (n.3532-38T>C)
c.8905-38T>C (n.8905-38T>C)
c.8851-38T>C (n.8851-38T>C)
c.8641-38T>C (n.8641-38T>C)
c.8287-38T>C (n.8287-38T>C)
c.6184-38T>C (n.6184-38T>C)
n.9134-38T>C
c.8770-38T>C (n.8770-38T>C)
c.7966-38T>C (n.7966-38T>C)
c.7771-38T>C (n.7771-38T>C)
n.9183-38T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37122527_37122535delinsTCCAAATAACA1539665423CPLANE1c.8959-47_8959-39delinsTTATTTGGA (n.8959-47_8959-39delinsTTATTTGGA)
n.820-47_820-39delinsTTATTTGGA
c.8797-47_8797-39delinsTTATTTGGA (n.8797-47_8797-39delinsTTATTTGGA)
c.5971-47_5971-39delinsTTATTTGGA (n.5971-47_5971-39delinsTTATTTGGA)
n.342-751_342-743delinsTTATTTGGA
c.5995-47_5995-39delinsTTATTTGGA (n.5995-47_5995-39delinsTTATTTGGA)
c.8956-47_8956-39delinsTTATTTGGA (n.8956-47_8956-39delinsTTATTTGGA)
c.8848-47_8848-39delinsTTATTTGGA (n.8848-47_8848-39delinsTTATTTGGA)
c.8830-47_8830-39delinsTTATTTGGA (n.8830-47_8830-39delinsTTATTTGGA)
c.5602-47_5602-39delinsTTATTTGGA (n.5602-47_5602-39delinsTTATTTGGA)
c.3532-47_3532-39delinsTTATTTGGA (n.3532-47_3532-39delinsTTATTTGGA)
c.8905-47_8905-39delinsTTATTTGGA (n.8905-47_8905-39delinsTTATTTGGA)
c.8851-47_8851-39delinsTTATTTGGA (n.8851-47_8851-39delinsTTATTTGGA)
c.8641-47_8641-39delinsTTATTTGGA (n.8641-47_8641-39delinsTTATTTGGA)
c.8287-47_8287-39delinsTTATTTGGA (n.8287-47_8287-39delinsTTATTTGGA)
c.6184-47_6184-39delinsTTATTTGGA (n.6184-47_6184-39delinsTTATTTGGA)
n.9134-47_9134-39delinsTTATTTGGA
c.8770-47_8770-39delinsTTATTTGGA (n.8770-47_8770-39delinsTTATTTGGA)
c.7966-47_7966-39delinsTTATTTGGA (n.7966-47_7966-39delinsTTATTTGGA)
c.7771-47_7771-39delinsTTATTTGGA (n.7771-47_7771-39delinsTTATTTGGA)
n.9183-47_9183-39delinsTTATTTGGA
5g.37122528C=CA1539665426CPLANE1c.8959-40G= (n.8959-40G=)
n.820-40G=
c.8797-40G= (n.8797-40G=)
c.5971-40G= (n.5971-40G=)
n.342-744G=
c.5995-40G= (n.5995-40G=)
c.8956-40G= (n.8956-40G=)
c.8848-40G= (n.8848-40G=)
c.8830-40G= (n.8830-40G=)
c.5602-40G= (n.5602-40G=)
c.3532-40G= (n.3532-40G=)
c.8905-40G= (n.8905-40G=)
c.8851-40G= (n.8851-40G=)
c.8641-40G= (n.8641-40G=)
c.8287-40G= (n.8287-40G=)
c.6184-40G= (n.6184-40G=)
n.9134-40G=
c.8770-40G= (n.8770-40G=)
c.7966-40G= (n.7966-40G=)
c.7771-40G= (n.7771-40G=)
n.9183-40G=
5g.37122528C>GCA3237611CPLANE1c.8959-40G>C (n.8959-40G>C)
n.820-40G>C
c.8797-40G>C (n.8797-40G>C)
c.5971-40G>C (n.5971-40G>C)
n.342-744G>C
c.5995-40G>C (n.5995-40G>C)
c.8956-40G>C (n.8956-40G>C)
c.8848-40G>C (n.8848-40G>C)
c.8830-40G>C (n.8830-40G>C)
c.5602-40G>C (n.5602-40G>C)
c.3532-40G>C (n.3532-40G>C)
c.8905-40G>C (n.8905-40G>C)
c.8851-40G>C (n.8851-40G>C)
c.8641-40G>C (n.8641-40G>C)
c.8287-40G>C (n.8287-40G>C)
c.6184-40G>C (n.6184-40G>C)
n.9134-40G>C
c.8770-40G>C (n.8770-40G>C)
c.7966-40G>C (n.7966-40G>C)
c.7771-40G>C (n.7771-40G>C)
n.9183-40G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37122528C>TCA1539665424CPLANE1c.8959-40G>A (n.8959-40G>A)
n.820-40G>A
c.8797-40G>A (n.8797-40G>A)
c.5971-40G>A (n.5971-40G>A)
n.342-744G>A
c.5995-40G>A (n.5995-40G>A)
c.8956-40G>A (n.8956-40G>A)
c.8848-40G>A (n.8848-40G>A)
c.8830-40G>A (n.8830-40G>A)
c.5602-40G>A (n.5602-40G>A)
c.3532-40G>A (n.3532-40G>A)
c.8905-40G>A (n.8905-40G>A)
c.8851-40G>A (n.8851-40G>A)
c.8641-40G>A (n.8641-40G>A)
c.8287-40G>A (n.8287-40G>A)
c.6184-40G>A (n.6184-40G>A)
n.9134-40G>A
c.8770-40G>A (n.8770-40G>A)
c.7966-40G>A (n.7966-40G>A)
c.7771-40G>A (n.7771-40G>A)
n.9183-40G>A
 dbSNP gnomAD v4
5g.37122528_37122535delCA559021081CPLANE1c.8959-47_8959-40del (n.8959-47_8959-40del)
n.820-47_820-40del
c.8797-47_8797-40del (n.8797-47_8797-40del)
c.5971-47_5971-40del (n.5971-47_5971-40del)
n.342-751_342-744del
c.5995-47_5995-40del (n.5995-47_5995-40del)
c.8956-47_8956-40del (n.8956-47_8956-40del)
c.8848-47_8848-40del (n.8848-47_8848-40del)
c.8830-47_8830-40del (n.8830-47_8830-40del)
c.5602-47_5602-40del (n.5602-47_5602-40del)
c.3532-47_3532-40del (n.3532-47_3532-40del)
c.8905-47_8905-40del (n.8905-47_8905-40del)
c.8851-47_8851-40del (n.8851-47_8851-40del)
c.8641-47_8641-40del (n.8641-47_8641-40del)
c.8287-47_8287-40del (n.8287-47_8287-40del)
c.6184-47_6184-40del (n.6184-47_6184-40del)
n.9134-47_9134-40del
c.8770-47_8770-40del (n.8770-47_8770-40del)
c.7966-47_7966-40del (n.7966-47_7966-40del)
c.7771-47_7771-40del (n.7771-47_7771-40del)
n.9183-47_9183-40del
 dbSNP gnomAD v2 gnomAD v4
5g.37122529C>ACA2578290249CPLANE1c.8959-41G>T (n.8959-41G>T)
n.820-41G>T
c.8797-41G>T (n.8797-41G>T)
c.5971-41G>T (n.5971-41G>T)
n.342-745G>T
c.5995-41G>T (n.5995-41G>T)
c.8956-41G>T (n.8956-41G>T)
c.8848-41G>T (n.8848-41G>T)
c.8830-41G>T (n.8830-41G>T)
c.5602-41G>T (n.5602-41G>T)
c.3532-41G>T (n.3532-41G>T)
c.8905-41G>T (n.8905-41G>T)
c.8851-41G>T (n.8851-41G>T)
c.8641-41G>T (n.8641-41G>T)
c.8287-41G>T (n.8287-41G>T)
c.6184-41G>T (n.6184-41G>T)
n.9134-41G>T
c.8770-41G>T (n.8770-41G>T)
c.7966-41G>T (n.7966-41G>T)
c.7771-41G>T (n.7771-41G>T)
n.9183-41G>T
 gnomAD v4
5g.37122529C>TCA2673579787CPLANE1c.8959-41G>A (n.8959-41G>A)
n.820-41G>A
c.8797-41G>A (n.8797-41G>A)
c.5971-41G>A (n.5971-41G>A)
n.342-745G>A
c.5995-41G>A (n.5995-41G>A)
c.8956-41G>A (n.8956-41G>A)
c.8848-41G>A (n.8848-41G>A)
c.8830-41G>A (n.8830-41G>A)
c.5602-41G>A (n.5602-41G>A)
c.3532-41G>A (n.3532-41G>A)
c.8905-41G>A (n.8905-41G>A)
c.8851-41G>A (n.8851-41G>A)
c.8641-41G>A (n.8641-41G>A)
c.8287-41G>A (n.8287-41G>A)
c.6184-41G>A (n.6184-41G>A)
n.9134-41G>A
c.8770-41G>A (n.8770-41G>A)
c.7966-41G>A (n.7966-41G>A)
c.7771-41G>A (n.7771-41G>A)
n.9183-41G>A
 gnomAD v4

Number of alleles fetched