Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37153827G>ACA171464CPLANE1n.1285C>T
c.8286C>T (p.Asp2762=)
c.8124C>T (p.Asp2708=)
n.18C>T
c.5298C>T (p.Asp1766=)
n.528C>T
c.1400C>T
c.5322C>T (p.Asp1774=)
c.8283C>T (p.Asp2761=)
c.8175C>T (p.Asp2725=)
c.8157C>T (p.Asp2719=)
c.4929C>T (p.Asp1643=)
c.2859C>T (p.Asp953=)
c.8232C>T (p.Asp2744=)
c.8178C>T (p.Asp2726=)
c.7968C>T (p.Asp2656=)
c.7614C>T (p.Asp2538=)
c.5511C>T (p.Asp1837=)
n.8461C>T
c.8097C>T (p.Asp2699=)
c.7293C>T (p.Asp2431=)
c.7098C>T (p.Asp2366=)
n.8455C>T
n.8401C>T
n.8510C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37153827G>CCA359473845CPLANE1n.1285C>G
c.8286C>G (p.Asp2762Glu)
c.8124C>G (p.Asp2708Glu)
n.18C>G
c.5298C>G (p.Asp1766Glu)
n.528C>G
c.1400C>G
c.5322C>G (p.Asp1774Glu)
c.8283C>G (p.Asp2761Glu)
c.8175C>G (p.Asp2725Glu)
c.8157C>G (p.Asp2719Glu)
c.4929C>G (p.Asp1643Glu)
c.2859C>G (p.Asp953Glu)
c.8232C>G (p.Asp2744Glu)
c.8178C>G (p.Asp2726Glu)
c.7968C>G (p.Asp2656Glu)
c.7614C>G (p.Asp2538Glu)
c.5511C>G (p.Asp1837Glu)
n.8461C>G
c.8097C>G (p.Asp2699Glu)
c.7293C>G (p.Asp2431Glu)
c.7098C>G (p.Asp2366Glu)
n.8455C>G
n.8401C>G
n.8510C>G
 dbSNP gnomAD v3 gnomAD v4
5g.37153827G=CA1539651113CPLANE1n.1285C=
c.8286C= (p.Asp2762=)
c.8124C= (p.Asp2708=)
n.18C=
c.5298C= (p.Asp1766=)
n.528C=
c.1400C=
c.5322C= (p.Asp1774=)
c.8283C= (p.Asp2761=)
c.8175C= (p.Asp2725=)
c.8157C= (p.Asp2719=)
c.4929C= (p.Asp1643=)
c.2859C= (p.Asp953=)
c.8232C= (p.Asp2744=)
c.8178C= (p.Asp2726=)
c.7968C= (p.Asp2656=)
c.7614C= (p.Asp2538=)
c.5511C= (p.Asp1837=)
n.8461C=
c.8097C= (p.Asp2699=)
c.7293C= (p.Asp2431=)
c.7098C= (p.Asp2366=)
n.8455C=
n.8401C=
n.8510C=
5g.37153827G>TCA359473847CPLANE1n.1285C>A
c.8286C>A (p.Asp2762Glu)
c.8124C>A (p.Asp2708Glu)
n.18C>A
c.5298C>A (p.Asp1766Glu)
n.528C>A
c.1400C>A
c.5322C>A (p.Asp1774Glu)
c.8283C>A (p.Asp2761Glu)
c.8175C>A (p.Asp2725Glu)
c.8157C>A (p.Asp2719Glu)
c.4929C>A (p.Asp1643Glu)
c.2859C>A (p.Asp953Glu)
c.8232C>A (p.Asp2744Glu)
c.8178C>A (p.Asp2726Glu)
c.7968C>A (p.Asp2656Glu)
c.7614C>A (p.Asp2538Glu)
c.5511C>A (p.Asp1837Glu)
n.8461C>A
c.8097C>A (p.Asp2699Glu)
c.7293C>A (p.Asp2431Glu)
c.7098C>A (p.Asp2366Glu)
n.8455C>A
n.8401C>A
n.8510C>A
5g.37153828T>ACA359473849CPLANE1n.1284A>T
c.8285A>T (p.Asp2762Val)
c.8123A>T (p.Asp2708Val)
n.17A>T
c.5297A>T (p.Asp1766Val)
n.527A>T
c.1399A>T
c.5321A>T (p.Asp1774Val)
c.8282A>T (p.Asp2761Val)
c.8174A>T (p.Asp2725Val)
c.8156A>T (p.Asp2719Val)
c.4928A>T (p.Asp1643Val)
c.2858A>T (p.Asp953Val)
c.8231A>T (p.Asp2744Val)
c.8177A>T (p.Asp2726Val)
c.7967A>T (p.Asp2656Val)
c.7613A>T (p.Asp2538Val)
c.5510A>T (p.Asp1837Val)
n.8460A>T
c.8096A>T (p.Asp2699Val)
c.7292A>T (p.Asp2431Val)
c.7097A>T (p.Asp2366Val)
n.8454A>T
n.8400A>T
n.8509A>T
5g.37153828T>CCA359473851CPLANE1n.1284A>G
c.8285A>G (p.Asp2762Gly)
c.8123A>G (p.Asp2708Gly)
n.17A>G
c.5297A>G (p.Asp1766Gly)
n.527A>G
c.1399A>G
c.5321A>G (p.Asp1774Gly)
c.8282A>G (p.Asp2761Gly)
c.8174A>G (p.Asp2725Gly)
c.8156A>G (p.Asp2719Gly)
c.4928A>G (p.Asp1643Gly)
c.2858A>G (p.Asp953Gly)
c.8231A>G (p.Asp2744Gly)
c.8177A>G (p.Asp2726Gly)
c.7967A>G (p.Asp2656Gly)
c.7613A>G (p.Asp2538Gly)
c.5510A>G (p.Asp1837Gly)
n.8460A>G
c.8096A>G (p.Asp2699Gly)
c.7292A>G (p.Asp2431Gly)
c.7097A>G (p.Asp2366Gly)
n.8454A>G
n.8400A>G
n.8509A>G
5g.37153828T>GCA359473852CPLANE1n.1284A>C
c.8285A>C (p.Asp2762Ala)
c.8123A>C (p.Asp2708Ala)
n.17A>C
c.5297A>C (p.Asp1766Ala)
n.527A>C
c.1399A>C
c.5321A>C (p.Asp1774Ala)
c.8282A>C (p.Asp2761Ala)
c.8174A>C (p.Asp2725Ala)
c.8156A>C (p.Asp2719Ala)
c.4928A>C (p.Asp1643Ala)
c.2858A>C (p.Asp953Ala)
c.8231A>C (p.Asp2744Ala)
c.8177A>C (p.Asp2726Ala)
c.7967A>C (p.Asp2656Ala)
c.7613A>C (p.Asp2538Ala)
c.5510A>C (p.Asp1837Ala)
n.8460A>C
c.8096A>C (p.Asp2699Ala)
c.7292A>C (p.Asp2431Ala)
c.7097A>C (p.Asp2366Ala)
n.8454A>C
n.8400A>C
n.8509A>C
5g.37153829C>ACA359473854CPLANE1n.1283G>T
c.8284G>T (p.Asp2762Tyr)
c.8122G>T (p.Asp2708Tyr)
n.16G>T
c.5296G>T (p.Asp1766Tyr)
n.526G>T
c.1398G>T
c.5320G>T (p.Asp1774Tyr)
c.8281G>T (p.Asp2761Tyr)
c.8173G>T (p.Asp2725Tyr)
c.8155G>T (p.Asp2719Tyr)
c.4927G>T (p.Asp1643Tyr)
c.2857G>T (p.Asp953Tyr)
c.8230G>T (p.Asp2744Tyr)
c.8176G>T (p.Asp2726Tyr)
c.7966G>T (p.Asp2656Tyr)
c.7612G>T (p.Asp2538Tyr)
c.5509G>T (p.Asp1837Tyr)
n.8459G>T
c.8095G>T (p.Asp2699Tyr)
c.7291G>T (p.Asp2431Tyr)
c.7096G>T (p.Asp2366Tyr)
n.8453G>T
n.8399G>T
n.8508G>T
5g.37153829C=CA1539651123CPLANE1n.1283G=
c.8284G= (p.Asp2762=)
c.8122G= (p.Asp2708=)
n.16G=
c.5296G= (p.Asp1766=)
n.526G=
c.1398G=
c.5320G= (p.Asp1774=)
c.8281G= (p.Asp2761=)
c.8173G= (p.Asp2725=)
c.8155G= (p.Asp2719=)
c.4927G= (p.Asp1643=)
c.2857G= (p.Asp953=)
c.8230G= (p.Asp2744=)
c.8176G= (p.Asp2726=)
c.7966G= (p.Asp2656=)
c.7612G= (p.Asp2538=)
c.5509G= (p.Asp1837=)
n.8459G=
c.8095G= (p.Asp2699=)
c.7291G= (p.Asp2431=)
c.7096G= (p.Asp2366=)
n.8453G=
n.8399G=
n.8508G=
5g.37153829C>GCA359473855CPLANE1n.1283G>C
c.8284G>C (p.Asp2762His)
c.8122G>C (p.Asp2708His)
n.16G>C
c.5296G>C (p.Asp1766His)
n.526G>C
c.1398G>C
c.5320G>C (p.Asp1774His)
c.8281G>C (p.Asp2761His)
c.8173G>C (p.Asp2725His)
c.8155G>C (p.Asp2719His)
c.4927G>C (p.Asp1643His)
c.2857G>C (p.Asp953His)
c.8230G>C (p.Asp2744His)
c.8176G>C (p.Asp2726His)
c.7966G>C (p.Asp2656His)
c.7612G>C (p.Asp2538His)
c.5509G>C (p.Asp1837His)
n.8459G>C
c.8095G>C (p.Asp2699His)
c.7291G>C (p.Asp2431His)
c.7096G>C (p.Asp2366His)
n.8453G>C
n.8399G>C
n.8508G>C
 dbSNP gnomAD v2 gnomAD v4
5g.37153829C>TCA359473857CPLANE1n.1283G>A
c.8284G>A (p.Asp2762Asn)
c.8122G>A (p.Asp2708Asn)
n.16G>A
c.5296G>A (p.Asp1766Asn)
n.526G>A
c.1398G>A
c.5320G>A (p.Asp1774Asn)
c.8281G>A (p.Asp2761Asn)
c.8173G>A (p.Asp2725Asn)
c.8155G>A (p.Asp2719Asn)
c.4927G>A (p.Asp1643Asn)
c.2857G>A (p.Asp953Asn)
c.8230G>A (p.Asp2744Asn)
c.8176G>A (p.Asp2726Asn)
c.7966G>A (p.Asp2656Asn)
c.7612G>A (p.Asp2538Asn)
c.5509G>A (p.Asp1837Asn)
n.8459G>A
c.8095G>A (p.Asp2699Asn)
c.7291G>A (p.Asp2431Asn)
c.7096G>A (p.Asp2366Asn)
n.8453G>A
n.8399G>A
n.8508G>A
5g.37153830A>CCA359473859CPLANE1n.1282T>G
c.8283T>G (p.Ile2761Met)
c.8121T>G (p.Ile2707Met)
n.15T>G
c.5295T>G (p.Ile1765Met)
n.525T>G
c.1397T>G
c.5319T>G (p.Ile1773Met)
c.8280T>G (p.Ile2760Met)
c.8172T>G (p.Ile2724Met)
c.8154T>G (p.Ile2718Met)
c.4926T>G (p.Ile1642Met)
c.2856T>G (p.Ile952Met)
c.8229T>G (p.Ile2743Met)
c.8175T>G (p.Ile2725Met)
c.7965T>G (p.Ile2655Met)
c.7611T>G (p.Ile2537Met)
c.5508T>G (p.Ile1836Met)
n.8458T>G
c.8094T>G (p.Ile2698Met)
c.7290T>G (p.Ile2430Met)
c.7095T>G (p.Ile2365Met)
n.8452T>G
n.8398T>G
n.8507T>G
5g.37153830A>GCA444096667CPLANE1n.1282T>C
c.8283T>C (p.Ile2761=)
c.8121T>C (p.Ile2707=)
n.15T>C
c.5295T>C (p.Ile1765=)
n.525T>C
c.1397T>C
c.5319T>C (p.Ile1773=)
c.8280T>C (p.Ile2760=)
c.8172T>C (p.Ile2724=)
c.8154T>C (p.Ile2718=)
c.4926T>C (p.Ile1642=)
c.2856T>C (p.Ile952=)
c.8229T>C (p.Ile2743=)
c.8175T>C (p.Ile2725=)
c.7965T>C (p.Ile2655=)
c.7611T>C (p.Ile2537=)
c.5508T>C (p.Ile1836=)
n.8458T>C
c.8094T>C (p.Ile2698=)
c.7290T>C (p.Ile2430=)
c.7095T>C (p.Ile2365=)
n.8452T>C
n.8398T>C
n.8507T>C
5g.37153830A>TCA444096668CPLANE1n.1282T>A
c.8283T>A (p.Ile2761=)
c.8121T>A (p.Ile2707=)
n.15T>A
c.5295T>A (p.Ile1765=)
n.525T>A
c.1397T>A
c.5319T>A (p.Ile1773=)
c.8280T>A (p.Ile2760=)
c.8172T>A (p.Ile2724=)
c.8154T>A (p.Ile2718=)
c.4926T>A (p.Ile1642=)
c.2856T>A (p.Ile952=)
c.8229T>A (p.Ile2743=)
c.8175T>A (p.Ile2725=)
c.7965T>A (p.Ile2655=)
c.7611T>A (p.Ile2537=)
c.5508T>A (p.Ile1836=)
n.8458T>A
c.8094T>A (p.Ile2698=)
c.7290T>A (p.Ile2430=)
c.7095T>A (p.Ile2365=)
n.8452T>A
n.8398T>A
n.8507T>A
 ClinVar dbSNP
5g.37153831A=CA1539651132CPLANE1n.1281T=
c.8282T= (p.Ile2761=)
c.8120T= (p.Ile2707=)
n.14T=
c.5294T= (p.Ile1765=)
n.524T=
c.1396T=
c.5318T= (p.Ile1773=)
c.8279T= (p.Ile2760=)
c.8171T= (p.Ile2724=)
c.8153T= (p.Ile2718=)
c.4925T= (p.Ile1642=)
c.2855T= (p.Ile952=)
c.8228T= (p.Ile2743=)
c.8174T= (p.Ile2725=)
c.7964T= (p.Ile2655=)
c.7610T= (p.Ile2537=)
c.5507T= (p.Ile1836=)
n.8457T=
c.8093T= (p.Ile2698=)
c.7289T= (p.Ile2430=)
c.7094T= (p.Ile2365=)
n.8451T=
n.8397T=
n.8506T=
5g.37153831A>CCA3237835CPLANE1n.1281T>G
c.8282T>G (p.Ile2761Ser)
c.8120T>G (p.Ile2707Ser)
n.14T>G
c.5294T>G (p.Ile1765Ser)
n.524T>G
c.1396T>G
c.5318T>G (p.Ile1773Ser)
c.8279T>G (p.Ile2760Ser)
c.8171T>G (p.Ile2724Ser)
c.8153T>G (p.Ile2718Ser)
c.4925T>G (p.Ile1642Ser)
c.2855T>G (p.Ile952Ser)
c.8228T>G (p.Ile2743Ser)
c.8174T>G (p.Ile2725Ser)
c.7964T>G (p.Ile2655Ser)
c.7610T>G (p.Ile2537Ser)
c.5507T>G (p.Ile1836Ser)
n.8457T>G
c.8093T>G (p.Ile2698Ser)
c.7289T>G (p.Ile2430Ser)
c.7094T>G (p.Ile2365Ser)
n.8451T>G
n.8397T>G
n.8506T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37153831A>GCA3237834CPLANE1n.1281T>C
c.8282T>C (p.Ile2761Thr)
c.8120T>C (p.Ile2707Thr)
n.14T>C
c.5294T>C (p.Ile1765Thr)
n.524T>C
c.1396T>C
c.5318T>C (p.Ile1773Thr)
c.8279T>C (p.Ile2760Thr)
c.8171T>C (p.Ile2724Thr)
c.8153T>C (p.Ile2718Thr)
c.4925T>C (p.Ile1642Thr)
c.2855T>C (p.Ile952Thr)
c.8228T>C (p.Ile2743Thr)
c.8174T>C (p.Ile2725Thr)
c.7964T>C (p.Ile2655Thr)
c.7610T>C (p.Ile2537Thr)
c.5507T>C (p.Ile1836Thr)
n.8457T>C
c.8093T>C (p.Ile2698Thr)
c.7289T>C (p.Ile2430Thr)
c.7094T>C (p.Ile2365Thr)
n.8451T>C
n.8397T>C
n.8506T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37153831A>TCA359473862CPLANE1n.1281T>A
c.8282T>A (p.Ile2761Asn)
c.8120T>A (p.Ile2707Asn)
n.14T>A
c.5294T>A (p.Ile1765Asn)
n.524T>A
c.1396T>A
c.5318T>A (p.Ile1773Asn)
c.8279T>A (p.Ile2760Asn)
c.8171T>A (p.Ile2724Asn)
c.8153T>A (p.Ile2718Asn)
c.4925T>A (p.Ile1642Asn)
c.2855T>A (p.Ile952Asn)
c.8228T>A (p.Ile2743Asn)
c.8174T>A (p.Ile2725Asn)
c.7964T>A (p.Ile2655Asn)
c.7610T>A (p.Ile2537Asn)
c.5507T>A (p.Ile1836Asn)
n.8457T>A
c.8093T>A (p.Ile2698Asn)
c.7289T>A (p.Ile2430Asn)
c.7094T>A (p.Ile2365Asn)
n.8451T>A
n.8397T>A
n.8506T>A
5g.37153832T>ACA359473866CPLANE1n.1280A>T
c.8281A>T (p.Ile2761Phe)
c.8119A>T (p.Ile2707Phe)
n.13A>T
c.5293A>T (p.Ile1765Phe)
n.523A>T
c.1395A>T
c.5317A>T (p.Ile1773Phe)
c.8278A>T (p.Ile2760Phe)
c.8170A>T (p.Ile2724Phe)
c.8152A>T (p.Ile2718Phe)
c.4924A>T (p.Ile1642Phe)
c.2854A>T (p.Ile952Phe)
c.8227A>T (p.Ile2743Phe)
c.8173A>T (p.Ile2725Phe)
c.7963A>T (p.Ile2655Phe)
c.7609A>T (p.Ile2537Phe)
c.5506A>T (p.Ile1836Phe)
n.8456A>T
c.8092A>T (p.Ile2698Phe)
c.7288A>T (p.Ile2430Phe)
c.7093A>T (p.Ile2365Phe)
n.8450A>T
n.8396A>T
n.8505A>T
5g.37153832T>CCA359473865CPLANE1n.1280A>G
c.8281A>G (p.Ile2761Val)
c.8119A>G (p.Ile2707Val)
n.13A>G
c.5293A>G (p.Ile1765Val)
n.523A>G
c.1395A>G
c.5317A>G (p.Ile1773Val)
c.8278A>G (p.Ile2760Val)
c.8170A>G (p.Ile2724Val)
c.8152A>G (p.Ile2718Val)
c.4924A>G (p.Ile1642Val)
c.2854A>G (p.Ile952Val)
c.8227A>G (p.Ile2743Val)
c.8173A>G (p.Ile2725Val)
c.7963A>G (p.Ile2655Val)
c.7609A>G (p.Ile2537Val)
c.5506A>G (p.Ile1836Val)
n.8456A>G
c.8092A>G (p.Ile2698Val)
c.7288A>G (p.Ile2430Val)
c.7093A>G (p.Ile2365Val)
n.8450A>G
n.8396A>G
n.8505A>G
 gnomAD v4
5g.37153832T>GCA359473863CPLANE1n.1280A>C
c.8281A>C (p.Ile2761Leu)
c.8119A>C (p.Ile2707Leu)
n.13A>C
c.5293A>C (p.Ile1765Leu)
n.523A>C
c.1395A>C
c.5317A>C (p.Ile1773Leu)
c.8278A>C (p.Ile2760Leu)
c.8170A>C (p.Ile2724Leu)
c.8152A>C (p.Ile2718Leu)
c.4924A>C (p.Ile1642Leu)
c.2854A>C (p.Ile952Leu)
c.8227A>C (p.Ile2743Leu)
c.8173A>C (p.Ile2725Leu)
c.7963A>C (p.Ile2655Leu)
c.7609A>C (p.Ile2537Leu)
c.5506A>C (p.Ile1836Leu)
n.8456A>C
c.8092A>C (p.Ile2698Leu)
c.7288A>C (p.Ile2430Leu)
c.7093A>C (p.Ile2365Leu)
n.8450A>C
n.8396A>C
n.8505A>C
5g.37153835delCA2673584238CPLANE1n.1280del
c.8281del (p.Ile2761LeufsTer6)
c.8119del (p.Ile2707LeufsTer6)
n.13del
c.5293del (p.Ile1765LeufsTer6)
n.523del
c.1395del
c.5317del (p.Ile1773LeufsTer6)
c.8278del (p.Ile2760LeufsTer6)
c.8170del (p.Ile2724LeufsTer6)
c.8152del (p.Ile2718LeufsTer6)
c.4924del (p.Ile1642LeufsTer6)
c.2854del (p.Ile952LeufsTer6)
c.8227del (p.Ile2743LeufsTer6)
c.8173del (p.Ile2725LeufsTer6)
c.7963del (p.Ile2655LeufsTer6)
c.7609del (p.Ile2537LeufsTer6)
c.5506del (p.Ile1836LeufsTer6)
n.8456del
c.8092del (p.Ile2698LeufsTer6)
c.7288del (p.Ile2430LeufsTer6)
c.7093del (p.Ile2365LeufsTer6)
n.8450del
n.8396del
n.8505del
 gnomAD v4
5g.37153833T>ACA359473868CPLANE1n.1279A>T
c.8280A>T (p.Lys2760Asn)
c.8118A>T (p.Lys2706Asn)
n.12A>T
c.5292A>T (p.Lys1764Asn)
n.522A>T
c.1394A>T
c.5316A>T (p.Lys1772Asn)
c.8277A>T (p.Lys2759Asn)
c.8169A>T (p.Lys2723Asn)
c.8151A>T (p.Lys2717Asn)
c.4923A>T (p.Lys1641Asn)
c.2853A>T (p.Lys951Asn)
c.8226A>T (p.Lys2742Asn)
c.8172A>T (p.Lys2724Asn)
c.7962A>T (p.Lys2654Asn)
c.7608A>T (p.Lys2536Asn)
c.5505A>T (p.Lys1835Asn)
n.8455A>T
c.8091A>T (p.Lys2697Asn)
c.7287A>T (p.Lys2429Asn)
c.7092A>T (p.Lys2364Asn)
n.8449A>T
n.8395A>T
n.8504A>T
5g.37153833T>CCA444096671CPLANE1n.1279A>G
c.8280A>G (p.Lys2760=)
c.8118A>G (p.Lys2706=)
n.12A>G
c.5292A>G (p.Lys1764=)
n.522A>G
c.1394A>G
c.5316A>G (p.Lys1772=)
c.8277A>G (p.Lys2759=)
c.8169A>G (p.Lys2723=)
c.8151A>G (p.Lys2717=)
c.4923A>G (p.Lys1641=)
c.2853A>G (p.Lys951=)
c.8226A>G (p.Lys2742=)
c.8172A>G (p.Lys2724=)
c.7962A>G (p.Lys2654=)
c.7608A>G (p.Lys2536=)
c.5505A>G (p.Lys1835=)
n.8455A>G
c.8091A>G (p.Lys2697=)
c.7287A>G (p.Lys2429=)
c.7092A>G (p.Lys2364=)
n.8449A>G
n.8395A>G
n.8504A>G
5g.37153833T>GCA359473870CPLANE1n.1279A>C
c.8280A>C (p.Lys2760Asn)
c.8118A>C (p.Lys2706Asn)
n.12A>C
c.5292A>C (p.Lys1764Asn)
n.522A>C
c.1394A>C
c.5316A>C (p.Lys1772Asn)
c.8277A>C (p.Lys2759Asn)
c.8169A>C (p.Lys2723Asn)
c.8151A>C (p.Lys2717Asn)
c.4923A>C (p.Lys1641Asn)
c.2853A>C (p.Lys951Asn)
c.8226A>C (p.Lys2742Asn)
c.8172A>C (p.Lys2724Asn)
c.7962A>C (p.Lys2654Asn)
c.7608A>C (p.Lys2536Asn)
c.5505A>C (p.Lys1835Asn)
n.8455A>C
c.8091A>C (p.Lys2697Asn)
c.7287A>C (p.Lys2429Asn)
c.7092A>C (p.Lys2364Asn)
n.8449A>C
n.8395A>C
n.8504A>C
5g.37153834T>ACA359473871CPLANE1n.1278A>T
c.8279A>T (p.Lys2760Ile)
c.8117A>T (p.Lys2706Ile)
n.11A>T
c.5291A>T (p.Lys1764Ile)
n.521A>T
c.1393A>T
c.5315A>T (p.Lys1772Ile)
c.8276A>T (p.Lys2759Ile)
c.8168A>T (p.Lys2723Ile)
c.8150A>T (p.Lys2717Ile)
c.4922A>T (p.Lys1641Ile)
c.2852A>T (p.Lys951Ile)
c.8225A>T (p.Lys2742Ile)
c.8171A>T (p.Lys2724Ile)
c.7961A>T (p.Lys2654Ile)
c.7607A>T (p.Lys2536Ile)
c.5504A>T (p.Lys1835Ile)
n.8454A>T
c.8090A>T (p.Lys2697Ile)
c.7286A>T (p.Lys2429Ile)
c.7091A>T (p.Lys2364Ile)
n.8448A>T
n.8394A>T
n.8503A>T
5g.37153834T>CCA359473872CPLANE1n.1278A>G
c.8279A>G (p.Lys2760Arg)
c.8117A>G (p.Lys2706Arg)
n.11A>G
c.5291A>G (p.Lys1764Arg)
n.521A>G
c.1393A>G
c.5315A>G (p.Lys1772Arg)
c.8276A>G (p.Lys2759Arg)
c.8168A>G (p.Lys2723Arg)
c.8150A>G (p.Lys2717Arg)
c.4922A>G (p.Lys1641Arg)
c.2852A>G (p.Lys951Arg)
c.8225A>G (p.Lys2742Arg)
c.8171A>G (p.Lys2724Arg)
c.7961A>G (p.Lys2654Arg)
c.7607A>G (p.Lys2536Arg)
c.5504A>G (p.Lys1835Arg)
n.8454A>G
c.8090A>G (p.Lys2697Arg)
c.7286A>G (p.Lys2429Arg)
c.7091A>G (p.Lys2364Arg)
n.8448A>G
n.8394A>G
n.8503A>G
5g.37153834T>GCA359473874CPLANE1n.1278A>C
c.8279A>C (p.Lys2760Thr)
c.8117A>C (p.Lys2706Thr)
n.11A>C
c.5291A>C (p.Lys1764Thr)
n.521A>C
c.1393A>C
c.5315A>C (p.Lys1772Thr)
c.8276A>C (p.Lys2759Thr)
c.8168A>C (p.Lys2723Thr)
c.8150A>C (p.Lys2717Thr)
c.4922A>C (p.Lys1641Thr)
c.2852A>C (p.Lys951Thr)
c.8225A>C (p.Lys2742Thr)
c.8171A>C (p.Lys2724Thr)
c.7961A>C (p.Lys2654Thr)
c.7607A>C (p.Lys2536Thr)
c.5504A>C (p.Lys1835Thr)
n.8454A>C
c.8090A>C (p.Lys2697Thr)
c.7286A>C (p.Lys2429Thr)
c.7091A>C (p.Lys2364Thr)
n.8448A>C
n.8394A>C
n.8503A>C
5g.37153835T>ACA359473876CPLANE1n.1277A>T
c.8278A>T (p.Lys2760Ter)
c.8116A>T (p.Lys2706Ter)
n.10A>T
c.5290A>T (p.Lys1764Ter)
n.520A>T
c.1392A>T
c.5314A>T (p.Lys1772Ter)
c.8275A>T (p.Lys2759Ter)
c.8167A>T (p.Lys2723Ter)
c.8149A>T (p.Lys2717Ter)
c.4921A>T (p.Lys1641Ter)
c.2851A>T (p.Lys951Ter)
c.8224A>T (p.Lys2742Ter)
c.8170A>T (p.Lys2724Ter)
c.7960A>T (p.Lys2654Ter)
c.7606A>T (p.Lys2536Ter)
c.5503A>T (p.Lys1835Ter)
n.8453A>T
c.8089A>T (p.Lys2697Ter)
c.7285A>T (p.Lys2429Ter)
c.7090A>T (p.Lys2364Ter)
n.8447A>T
n.8393A>T
n.8502A>T
5g.37153835T>CCA359473878CPLANE1n.1277A>G
c.8278A>G (p.Lys2760Glu)
c.8116A>G (p.Lys2706Glu)
n.10A>G
c.5290A>G (p.Lys1764Glu)
n.520A>G
c.1392A>G
c.5314A>G (p.Lys1772Glu)
c.8275A>G (p.Lys2759Glu)
c.8167A>G (p.Lys2723Glu)
c.8149A>G (p.Lys2717Glu)
c.4921A>G (p.Lys1641Glu)
c.2851A>G (p.Lys951Glu)
c.8224A>G (p.Lys2742Glu)
c.8170A>G (p.Lys2724Glu)
c.7960A>G (p.Lys2654Glu)
c.7606A>G (p.Lys2536Glu)
c.5503A>G (p.Lys1835Glu)
n.8453A>G
c.8089A>G (p.Lys2697Glu)
c.7285A>G (p.Lys2429Glu)
c.7090A>G (p.Lys2364Glu)
n.8447A>G
n.8393A>G
n.8502A>G
5g.37153835T>GCA359473879CPLANE1n.1277A>C
c.8278A>C (p.Lys2760Gln)
c.8116A>C (p.Lys2706Gln)
n.10A>C
c.5290A>C (p.Lys1764Gln)
n.520A>C
c.1392A>C
c.5314A>C (p.Lys1772Gln)
c.8275A>C (p.Lys2759Gln)
c.8167A>C (p.Lys2723Gln)
c.8149A>C (p.Lys2717Gln)
c.4921A>C (p.Lys1641Gln)
c.2851A>C (p.Lys951Gln)
c.8224A>C (p.Lys2742Gln)
c.8170A>C (p.Lys2724Gln)
c.7960A>C (p.Lys2654Gln)
c.7606A>C (p.Lys2536Gln)
c.5503A>C (p.Lys1835Gln)
n.8453A>C
c.8089A>C (p.Lys2697Gln)
c.7285A>C (p.Lys2429Gln)
c.7090A>C (p.Lys2364Gln)
n.8447A>C
n.8393A>C
n.8502A>C
5g.37153836C>ACA359473880CPLANE1n.1276G>T
c.8277G>T (p.Gln2759His)
c.8115G>T (p.Gln2705His)
n.9G>T
c.5289G>T (p.Gln1763His)
n.519G>T
c.1391G>T
c.5313G>T (p.Gln1771His)
c.8274G>T (p.Gln2758His)
c.8166G>T (p.Gln2722His)
c.8148G>T (p.Gln2716His)
c.4920G>T (p.Gln1640His)
c.2850G>T (p.Gln950His)
c.8223G>T (p.Gln2741His)
c.8169G>T (p.Gln2723His)
c.7959G>T (p.Gln2653His)
c.7605G>T (p.Gln2535His)
c.5502G>T (p.Gln1834His)
n.8452G>T
c.8088G>T (p.Gln2696His)
c.7284G>T (p.Gln2428His)
c.7089G>T (p.Gln2363His)
n.8446G>T
n.8392G>T
n.8501G>T
5g.37153836C>GCA359473882CPLANE1n.1276G>C
c.8277G>C (p.Gln2759His)
c.8115G>C (p.Gln2705His)
n.9G>C
c.5289G>C (p.Gln1763His)
n.519G>C
c.1391G>C
c.5313G>C (p.Gln1771His)
c.8274G>C (p.Gln2758His)
c.8166G>C (p.Gln2722His)
c.8148G>C (p.Gln2716His)
c.4920G>C (p.Gln1640His)
c.2850G>C (p.Gln950His)
c.8223G>C (p.Gln2741His)
c.8169G>C (p.Gln2723His)
c.7959G>C (p.Gln2653His)
c.7605G>C (p.Gln2535His)
c.5502G>C (p.Gln1834His)
n.8452G>C
c.8088G>C (p.Gln2696His)
c.7284G>C (p.Gln2428His)
c.7089G>C (p.Gln2363His)
n.8446G>C
n.8392G>C
n.8501G>C
5g.37153836C>TCA444096675CPLANE1n.1276G>A
c.8277G>A (p.Gln2759=)
c.8115G>A (p.Gln2705=)
n.9G>A
c.5289G>A (p.Gln1763=)
n.519G>A
c.1391G>A
c.5313G>A (p.Gln1771=)
c.8274G>A (p.Gln2758=)
c.8166G>A (p.Gln2722=)
c.8148G>A (p.Gln2716=)
c.4920G>A (p.Gln1640=)
c.2850G>A (p.Gln950=)
c.8223G>A (p.Gln2741=)
c.8169G>A (p.Gln2723=)
c.7959G>A (p.Gln2653=)
c.7605G>A (p.Gln2535=)
c.5502G>A (p.Gln1834=)
n.8452G>A
c.8088G>A (p.Gln2696=)
c.7284G>A (p.Gln2428=)
c.7089G>A (p.Gln2363=)
n.8446G>A
n.8392G>A
n.8501G>A
5g.37153837T>ACA359473884CPLANE1n.1275A>T
c.8276A>T (p.Gln2759Leu)
c.8114A>T (p.Gln2705Leu)
n.8A>T
c.5288A>T (p.Gln1763Leu)
n.518A>T
c.1390A>T
c.5312A>T (p.Gln1771Leu)
c.8273A>T (p.Gln2758Leu)
c.8165A>T (p.Gln2722Leu)
c.8147A>T (p.Gln2716Leu)
c.4919A>T (p.Gln1640Leu)
c.2849A>T (p.Gln950Leu)
c.8222A>T (p.Gln2741Leu)
c.8168A>T (p.Gln2723Leu)
c.7958A>T (p.Gln2653Leu)
c.7604A>T (p.Gln2535Leu)
c.5501A>T (p.Gln1834Leu)
n.8451A>T
c.8087A>T (p.Gln2696Leu)
c.7283A>T (p.Gln2428Leu)
c.7088A>T (p.Gln2363Leu)
n.8445A>T
n.8391A>T
n.8500A>T
5g.37153837T>CCA359473886CPLANE1n.1275A>G
c.8276A>G (p.Gln2759Arg)
c.8114A>G (p.Gln2705Arg)
n.8A>G
c.5288A>G (p.Gln1763Arg)
n.518A>G
c.1390A>G
c.5312A>G (p.Gln1771Arg)
c.8273A>G (p.Gln2758Arg)
c.8165A>G (p.Gln2722Arg)
c.8147A>G (p.Gln2716Arg)
c.4919A>G (p.Gln1640Arg)
c.2849A>G (p.Gln950Arg)
c.8222A>G (p.Gln2741Arg)
c.8168A>G (p.Gln2723Arg)
c.7958A>G (p.Gln2653Arg)
c.7604A>G (p.Gln2535Arg)
c.5501A>G (p.Gln1834Arg)
n.8451A>G
c.8087A>G (p.Gln2696Arg)
c.7283A>G (p.Gln2428Arg)
c.7088A>G (p.Gln2363Arg)
n.8445A>G
n.8391A>G
n.8500A>G
5g.37153837T>GCA359473887CPLANE1n.1275A>C
c.8276A>C (p.Gln2759Pro)
c.8114A>C (p.Gln2705Pro)
n.8A>C
c.5288A>C (p.Gln1763Pro)
n.518A>C
c.1390A>C
c.5312A>C (p.Gln1771Pro)
c.8273A>C (p.Gln2758Pro)
c.8165A>C (p.Gln2722Pro)
c.8147A>C (p.Gln2716Pro)
c.4919A>C (p.Gln1640Pro)
c.2849A>C (p.Gln950Pro)
c.8222A>C (p.Gln2741Pro)
c.8168A>C (p.Gln2723Pro)
c.7958A>C (p.Gln2653Pro)
c.7604A>C (p.Gln2535Pro)
c.5501A>C (p.Gln1834Pro)
n.8451A>C
c.8087A>C (p.Gln2696Pro)
c.7283A>C (p.Gln2428Pro)
c.7088A>C (p.Gln2363Pro)
n.8445A>C
n.8391A>C
n.8500A>C
5g.37153838G>ACA359473889CPLANE1n.1274C>T
c.8275C>T (p.Gln2759Ter)
c.8113C>T (p.Gln2705Ter)
n.7C>T
c.5287C>T (p.Gln1763Ter)
n.517C>T
c.1389C>T
c.5311C>T (p.Gln1771Ter)
c.8272C>T (p.Gln2758Ter)
c.8164C>T (p.Gln2722Ter)
c.8146C>T (p.Gln2716Ter)
c.4918C>T (p.Gln1640Ter)
c.2848C>T (p.Gln950Ter)
c.8221C>T (p.Gln2741Ter)
c.8167C>T (p.Gln2723Ter)
c.7957C>T (p.Gln2653Ter)
c.7603C>T (p.Gln2535Ter)
c.5500C>T (p.Gln1834Ter)
n.8450C>T
c.8086C>T (p.Gln2696Ter)
c.7282C>T (p.Gln2428Ter)
c.7087C>T (p.Gln2363Ter)
n.8444C>T
n.8390C>T
n.8499C>T
5g.37153838G>CCA359473892CPLANE1n.1274C>G
c.8275C>G (p.Gln2759Glu)
c.8113C>G (p.Gln2705Glu)
n.7C>G
c.5287C>G (p.Gln1763Glu)
n.517C>G
c.1389C>G
c.5311C>G (p.Gln1771Glu)
c.8272C>G (p.Gln2758Glu)
c.8164C>G (p.Gln2722Glu)
c.8146C>G (p.Gln2716Glu)
c.4918C>G (p.Gln1640Glu)
c.2848C>G (p.Gln950Glu)
c.8221C>G (p.Gln2741Glu)
c.8167C>G (p.Gln2723Glu)
c.7957C>G (p.Gln2653Glu)
c.7603C>G (p.Gln2535Glu)
c.5500C>G (p.Gln1834Glu)
n.8450C>G
c.8086C>G (p.Gln2696Glu)
c.7282C>G (p.Gln2428Glu)
c.7087C>G (p.Gln2363Glu)
n.8444C>G
n.8390C>G
n.8499C>G
5g.37153838G>TCA359473891CPLANE1n.1274C>A
c.8275C>A (p.Gln2759Lys)
c.8113C>A (p.Gln2705Lys)
n.7C>A
c.5287C>A (p.Gln1763Lys)
n.517C>A
c.1389C>A
c.5311C>A (p.Gln1771Lys)
c.8272C>A (p.Gln2758Lys)
c.8164C>A (p.Gln2722Lys)
c.8146C>A (p.Gln2716Lys)
c.4918C>A (p.Gln1640Lys)
c.2848C>A (p.Gln950Lys)
c.8221C>A (p.Gln2741Lys)
c.8167C>A (p.Gln2723Lys)
c.7957C>A (p.Gln2653Lys)
c.7603C>A (p.Gln2535Lys)
c.5500C>A (p.Gln1834Lys)
n.8450C>A
c.8086C>A (p.Gln2696Lys)
c.7282C>A (p.Gln2428Lys)
c.7087C>A (p.Gln2363Lys)
n.8444C>A
n.8390C>A
n.8499C>A
5g.37153839A>CCA444096678CPLANE1n.1273T>G
c.8274T>G (p.Leu2758=)
c.8112T>G (p.Leu2704=)
n.6T>G
c.5286T>G (p.Leu1762=)
n.516T>G
c.1388T>G
c.5310T>G (p.Leu1770=)
c.8271T>G (p.Leu2757=)
c.8163T>G (p.Leu2721=)
c.8145T>G (p.Leu2715=)
c.4917T>G (p.Leu1639=)
c.2847T>G (p.Leu949=)
c.8220T>G (p.Leu2740=)
c.8166T>G (p.Leu2722=)
c.7956T>G (p.Leu2652=)
c.7602T>G (p.Leu2534=)
c.5499T>G (p.Leu1833=)
n.8449T>G
c.8085T>G (p.Leu2695=)
c.7281T>G (p.Leu2427=)
c.7086T>G (p.Leu2362=)
n.8443T>G
n.8389T>G
n.8498T>G
5g.37153839A>GCA444096677CPLANE1n.1273T>C
c.8274T>C (p.Leu2758=)
c.8112T>C (p.Leu2704=)
n.6T>C
c.5286T>C (p.Leu1762=)
n.516T>C
c.1388T>C
c.5310T>C (p.Leu1770=)
c.8271T>C (p.Leu2757=)
c.8163T>C (p.Leu2721=)
c.8145T>C (p.Leu2715=)
c.4917T>C (p.Leu1639=)
c.2847T>C (p.Leu949=)
c.8220T>C (p.Leu2740=)
c.8166T>C (p.Leu2722=)
c.7956T>C (p.Leu2652=)
c.7602T>C (p.Leu2534=)
c.5499T>C (p.Leu1833=)
n.8449T>C
c.8085T>C (p.Leu2695=)
c.7281T>C (p.Leu2427=)
c.7086T>C (p.Leu2362=)
n.8443T>C
n.8389T>C
n.8498T>C
5g.37153839A>TCA444096676CPLANE1n.1273T>A
c.8274T>A (p.Leu2758=)
c.8112T>A (p.Leu2704=)
n.6T>A
c.5286T>A (p.Leu1762=)
n.516T>A
c.1388T>A
c.5310T>A (p.Leu1770=)
c.8271T>A (p.Leu2757=)
c.8163T>A (p.Leu2721=)
c.8145T>A (p.Leu2715=)
c.4917T>A (p.Leu1639=)
c.2847T>A (p.Leu949=)
c.8220T>A (p.Leu2740=)
c.8166T>A (p.Leu2722=)
c.7956T>A (p.Leu2652=)
c.7602T>A (p.Leu2534=)
c.5499T>A (p.Leu1833=)
n.8449T>A
c.8085T>A (p.Leu2695=)
c.7281T>A (p.Leu2427=)
c.7086T>A (p.Leu2362=)
n.8443T>A
n.8389T>A
n.8498T>A
5g.37153840A>CCA359473894CPLANE1n.1272T>G
c.8273T>G (p.Leu2758Arg)
c.8111T>G (p.Leu2704Arg)
n.5T>G
c.5285T>G (p.Leu1762Arg)
n.515T>G
c.1387T>G
c.5309T>G (p.Leu1770Arg)
c.8270T>G (p.Leu2757Arg)
c.8162T>G (p.Leu2721Arg)
c.8144T>G (p.Leu2715Arg)
c.4916T>G (p.Leu1639Arg)
c.2846T>G (p.Leu949Arg)
c.8219T>G (p.Leu2740Arg)
c.8165T>G (p.Leu2722Arg)
c.7955T>G (p.Leu2652Arg)
c.7601T>G (p.Leu2534Arg)
c.5498T>G (p.Leu1833Arg)
n.8448T>G
c.8084T>G (p.Leu2695Arg)
c.7280T>G (p.Leu2427Arg)
c.7085T>G (p.Leu2362Arg)
n.8442T>G
n.8388T>G
n.8497T>G
5g.37153840A>GCA359473895CPLANE1n.1272T>C
c.8273T>C (p.Leu2758Pro)
c.8111T>C (p.Leu2704Pro)
n.5T>C
c.5285T>C (p.Leu1762Pro)
n.515T>C
c.1387T>C
c.5309T>C (p.Leu1770Pro)
c.8270T>C (p.Leu2757Pro)
c.8162T>C (p.Leu2721Pro)
c.8144T>C (p.Leu2715Pro)
c.4916T>C (p.Leu1639Pro)
c.2846T>C (p.Leu949Pro)
c.8219T>C (p.Leu2740Pro)
c.8165T>C (p.Leu2722Pro)
c.7955T>C (p.Leu2652Pro)
c.7601T>C (p.Leu2534Pro)
c.5498T>C (p.Leu1833Pro)
n.8448T>C
c.8084T>C (p.Leu2695Pro)
c.7280T>C (p.Leu2427Pro)
c.7085T>C (p.Leu2362Pro)
n.8442T>C
n.8388T>C
n.8497T>C
5g.37153840A>TCA359473896CPLANE1n.1272T>A
c.8273T>A (p.Leu2758His)
c.8111T>A (p.Leu2704His)
n.5T>A
c.5285T>A (p.Leu1762His)
n.515T>A
c.1387T>A
c.5309T>A (p.Leu1770His)
c.8270T>A (p.Leu2757His)
c.8162T>A (p.Leu2721His)
c.8144T>A (p.Leu2715His)
c.4916T>A (p.Leu1639His)
c.2846T>A (p.Leu949His)
c.8219T>A (p.Leu2740His)
c.8165T>A (p.Leu2722His)
c.7955T>A (p.Leu2652His)
c.7601T>A (p.Leu2534His)
c.5498T>A (p.Leu1833His)
n.8448T>A
c.8084T>A (p.Leu2695His)
c.7280T>A (p.Leu2427His)
c.7085T>A (p.Leu2362His)
n.8442T>A
n.8388T>A
n.8497T>A
5g.37153841G>ACA359473898CPLANE1n.1271C>T
c.8272C>T (p.Leu2758Phe)
c.8110C>T (p.Leu2704Phe)
n.4C>T
c.5284C>T (p.Leu1762Phe)
n.514C>T
c.1386C>T
c.5308C>T (p.Leu1770Phe)
c.8269C>T (p.Leu2757Phe)
c.8161C>T (p.Leu2721Phe)
c.8143C>T (p.Leu2715Phe)
c.4915C>T (p.Leu1639Phe)
c.2845C>T (p.Leu949Phe)
c.8218C>T (p.Leu2740Phe)
c.8164C>T (p.Leu2722Phe)
c.7954C>T (p.Leu2652Phe)
c.7600C>T (p.Leu2534Phe)
c.5497C>T (p.Leu1833Phe)
n.8447C>T
c.8083C>T (p.Leu2695Phe)
c.7279C>T (p.Leu2427Phe)
c.7084C>T (p.Leu2362Phe)
n.8441C>T
n.8387C>T
n.8496C>T
 gnomAD v4
5g.37153841G>CCA359473899CPLANE1n.1271C>G
c.8272C>G (p.Leu2758Val)
c.8110C>G (p.Leu2704Val)
n.4C>G
c.5284C>G (p.Leu1762Val)
n.514C>G
c.1386C>G
c.5308C>G (p.Leu1770Val)
c.8269C>G (p.Leu2757Val)
c.8161C>G (p.Leu2721Val)
c.8143C>G (p.Leu2715Val)
c.4915C>G (p.Leu1639Val)
c.2845C>G (p.Leu949Val)
c.8218C>G (p.Leu2740Val)
c.8164C>G (p.Leu2722Val)
c.7954C>G (p.Leu2652Val)
c.7600C>G (p.Leu2534Val)
c.5497C>G (p.Leu1833Val)
n.8447C>G
c.8083C>G (p.Leu2695Val)
c.7279C>G (p.Leu2427Val)
c.7084C>G (p.Leu2362Val)
n.8441C>G
n.8387C>G
n.8496C>G
 dbSNP
5g.37153841G=CA1539651139CPLANE1n.1271C=
c.8272C= (p.Leu2758=)
c.8110C= (p.Leu2704=)
n.4C=
c.5284C= (p.Leu1762=)
n.514C=
c.1386C=
c.5308C= (p.Leu1770=)
c.8269C= (p.Leu2757=)
c.8161C= (p.Leu2721=)
c.8143C= (p.Leu2715=)
c.4915C= (p.Leu1639=)
c.2845C= (p.Leu949=)
c.8218C= (p.Leu2740=)
c.8164C= (p.Leu2722=)
c.7954C= (p.Leu2652=)
c.7600C= (p.Leu2534=)
c.5497C= (p.Leu1833=)
n.8447C=
c.8083C= (p.Leu2695=)
c.7279C= (p.Leu2427=)
c.7084C= (p.Leu2362=)
n.8441C=
n.8387C=
n.8496C=
5g.37153841G>TCA359473901CPLANE1n.1271C>A
c.8272C>A (p.Leu2758Ile)
c.8110C>A (p.Leu2704Ile)
n.4C>A
c.5284C>A (p.Leu1762Ile)
n.514C>A
c.1386C>A
c.5308C>A (p.Leu1770Ile)
c.8269C>A (p.Leu2757Ile)
c.8161C>A (p.Leu2721Ile)
c.8143C>A (p.Leu2715Ile)
c.4915C>A (p.Leu1639Ile)
c.2845C>A (p.Leu949Ile)
c.8218C>A (p.Leu2740Ile)
c.8164C>A (p.Leu2722Ile)
c.7954C>A (p.Leu2652Ile)
c.7600C>A (p.Leu2534Ile)
c.5497C>A (p.Leu1833Ile)
n.8447C>A
c.8083C>A (p.Leu2695Ile)
c.7279C>A (p.Leu2427Ile)
c.7084C>A (p.Leu2362Ile)
n.8441C>A
n.8387C>A
n.8496C>A
5g.37153842C>ACA359473902CPLANE1n.1270G>T
c.8271G>T (p.Lys2757Asn)
c.8109G>T (p.Lys2703Asn)
n.3G>T
c.5283G>T (p.Lys1761Asn)
n.513G>T
c.1385G>T
c.5307G>T (p.Lys1769Asn)
c.8268G>T (p.Lys2756Asn)
c.8160G>T (p.Lys2720Asn)
c.8142G>T (p.Lys2714Asn)
c.4914G>T (p.Lys1638Asn)
c.2844G>T (p.Lys948Asn)
c.8217G>T (p.Lys2739Asn)
c.8163G>T (p.Lys2721Asn)
c.7953G>T (p.Lys2651Asn)
c.7599G>T (p.Lys2533Asn)
c.5496G>T (p.Lys1832Asn)
n.8446G>T
c.8082G>T (p.Lys2694Asn)
c.7278G>T (p.Lys2426Asn)
c.7083G>T (p.Lys2361Asn)
n.8440G>T
n.8386G>T
n.8495G>T
5g.37153842C>GCA359473904CPLANE1n.1270G>C
c.8271G>C (p.Lys2757Asn)
c.8109G>C (p.Lys2703Asn)
n.3G>C
c.5283G>C (p.Lys1761Asn)
n.513G>C
c.1385G>C
c.5307G>C (p.Lys1769Asn)
c.8268G>C (p.Lys2756Asn)
c.8160G>C (p.Lys2720Asn)
c.8142G>C (p.Lys2714Asn)
c.4914G>C (p.Lys1638Asn)
c.2844G>C (p.Lys948Asn)
c.8217G>C (p.Lys2739Asn)
c.8163G>C (p.Lys2721Asn)
c.7953G>C (p.Lys2651Asn)
c.7599G>C (p.Lys2533Asn)
c.5496G>C (p.Lys1832Asn)
n.8446G>C
c.8082G>C (p.Lys2694Asn)
c.7278G>C (p.Lys2426Asn)
c.7083G>C (p.Lys2361Asn)
n.8440G>C
n.8386G>C
n.8495G>C
5g.37153842C>TCA444096680CPLANE1n.1270G>A
c.8271G>A (p.Lys2757=)
c.8109G>A (p.Lys2703=)
n.3G>A
c.5283G>A (p.Lys1761=)
n.513G>A
c.1385G>A
c.5307G>A (p.Lys1769=)
c.8268G>A (p.Lys2756=)
c.8160G>A (p.Lys2720=)
c.8142G>A (p.Lys2714=)
c.4914G>A (p.Lys1638=)
c.2844G>A (p.Lys948=)
c.8217G>A (p.Lys2739=)
c.8163G>A (p.Lys2721=)
c.7953G>A (p.Lys2651=)
c.7599G>A (p.Lys2533=)
c.5496G>A (p.Lys1832=)
n.8446G>A
c.8082G>A (p.Lys2694=)
c.7278G>A (p.Lys2426=)
c.7083G>A (p.Lys2361=)
n.8440G>A
n.8386G>A
n.8495G>A
5g.37153843T>ACA359473906CPLANE1n.1269A>T
c.8270A>T (p.Lys2757Met)
c.8108A>T (p.Lys2703Met)
n.2A>T
c.5282A>T (p.Lys1761Met)
n.512A>T
c.1384A>T
c.5306A>T (p.Lys1769Met)
c.8267A>T (p.Lys2756Met)
c.8159A>T (p.Lys2720Met)
c.8141A>T (p.Lys2714Met)
c.4913A>T (p.Lys1638Met)
c.2843A>T (p.Lys948Met)
c.8216A>T (p.Lys2739Met)
c.8162A>T (p.Lys2721Met)
c.7952A>T (p.Lys2651Met)
c.7598A>T (p.Lys2533Met)
c.5495A>T (p.Lys1832Met)
n.8445A>T
c.8081A>T (p.Lys2694Met)
c.7277A>T (p.Lys2426Met)
c.7082A>T (p.Lys2361Met)
n.8439A>T
n.8385A>T
n.8494A>T
 gnomAD v4
5g.37153843T>CCA359473908CPLANE1n.1269A>G
c.8270A>G (p.Lys2757Arg)
c.8108A>G (p.Lys2703Arg)
n.2A>G
c.5282A>G (p.Lys1761Arg)
n.512A>G
c.1384A>G
c.5306A>G (p.Lys1769Arg)
c.8267A>G (p.Lys2756Arg)
c.8159A>G (p.Lys2720Arg)
c.8141A>G (p.Lys2714Arg)
c.4913A>G (p.Lys1638Arg)
c.2843A>G (p.Lys948Arg)
c.8216A>G (p.Lys2739Arg)
c.8162A>G (p.Lys2721Arg)
c.7952A>G (p.Lys2651Arg)
c.7598A>G (p.Lys2533Arg)
c.5495A>G (p.Lys1832Arg)
n.8445A>G
c.8081A>G (p.Lys2694Arg)
c.7277A>G (p.Lys2426Arg)
c.7082A>G (p.Lys2361Arg)
n.8439A>G
n.8385A>G
n.8494A>G
5g.37153843T>GCA359473909CPLANE1n.1269A>C
c.8270A>C (p.Lys2757Thr)
c.8108A>C (p.Lys2703Thr)
n.2A>C
c.5282A>C (p.Lys1761Thr)
n.512A>C
c.1384A>C
c.5306A>C (p.Lys1769Thr)
c.8267A>C (p.Lys2756Thr)
c.8159A>C (p.Lys2720Thr)
c.8141A>C (p.Lys2714Thr)
c.4913A>C (p.Lys1638Thr)
c.2843A>C (p.Lys948Thr)
c.8216A>C (p.Lys2739Thr)
c.8162A>C (p.Lys2721Thr)
c.7952A>C (p.Lys2651Thr)
c.7598A>C (p.Lys2533Thr)
c.5495A>C (p.Lys1832Thr)
n.8445A>C
c.8081A>C (p.Lys2694Thr)
c.7277A>C (p.Lys2426Thr)
c.7082A>C (p.Lys2361Thr)
n.8439A>C
n.8385A>C
n.8494A>C
5g.37153844T>ACA359473912CPLANE1n.1268A>T
c.8269A>T (p.Lys2757Ter)
c.8107A>T (p.Lys2703Ter)
n.1A>T
c.5281A>T (p.Lys1761Ter)
n.511A>T
c.1383A>T
c.5305A>T (p.Lys1769Ter)
c.8266A>T (p.Lys2756Ter)
c.8158A>T (p.Lys2720Ter)
c.8140A>T (p.Lys2714Ter)
c.4912A>T (p.Lys1638Ter)
c.2842A>T (p.Lys948Ter)
c.8215A>T (p.Lys2739Ter)
c.8161A>T (p.Lys2721Ter)
c.7951A>T (p.Lys2651Ter)
c.7597A>T (p.Lys2533Ter)
c.5494A>T (p.Lys1832Ter)
n.8444A>T
c.8080A>T (p.Lys2694Ter)
c.7276A>T (p.Lys2426Ter)
c.7081A>T (p.Lys2361Ter)
n.8438A>T
n.8384A>T
n.8493A>T
5g.37153844T>CCA359473914CPLANE1n.1268A>G
c.8269A>G (p.Lys2757Glu)
c.8107A>G (p.Lys2703Glu)
n.1A>G
c.5281A>G (p.Lys1761Glu)
n.511A>G
c.1383A>G
c.5305A>G (p.Lys1769Glu)
c.8266A>G (p.Lys2756Glu)
c.8158A>G (p.Lys2720Glu)
c.8140A>G (p.Lys2714Glu)
c.4912A>G (p.Lys1638Glu)
c.2842A>G (p.Lys948Glu)
c.8215A>G (p.Lys2739Glu)
c.8161A>G (p.Lys2721Glu)
c.7951A>G (p.Lys2651Glu)
c.7597A>G (p.Lys2533Glu)
c.5494A>G (p.Lys1832Glu)
n.8444A>G
c.8080A>G (p.Lys2694Glu)
c.7276A>G (p.Lys2426Glu)
c.7081A>G (p.Lys2361Glu)
n.8438A>G
n.8384A>G
n.8493A>G
5g.37153844T>GCA359473910CPLANE1n.1268A>C
c.8269A>C (p.Lys2757Gln)
c.8107A>C (p.Lys2703Gln)
n.1A>C
c.5281A>C (p.Lys1761Gln)
n.511A>C
c.1383A>C
c.5305A>C (p.Lys1769Gln)
c.8266A>C (p.Lys2756Gln)
c.8158A>C (p.Lys2720Gln)
c.8140A>C (p.Lys2714Gln)
c.4912A>C (p.Lys1638Gln)
c.2842A>C (p.Lys948Gln)
c.8215A>C (p.Lys2739Gln)
c.8161A>C (p.Lys2721Gln)
c.7951A>C (p.Lys2651Gln)
c.7597A>C (p.Lys2533Gln)
c.5494A>C (p.Lys1832Gln)
n.8444A>C
c.8080A>C (p.Lys2694Gln)
c.7276A>C (p.Lys2426Gln)
c.7081A>C (p.Lys2361Gln)
n.8438A>C
n.8384A>C
n.8493A>C
5g.37153845A=CA1539651144CPLANE1n.1267T=
c.8268T= (p.Ala2756=)
c.8106T= (p.Ala2702=)
c.5280T= (p.Ala1760=)
n.510T=
c.1382T=
c.5304T= (p.Ala1768=)
c.8265T= (p.Ala2755=)
c.8157T= (p.Ala2719=)
c.8139T= (p.Ala2713=)
c.4911T= (p.Ala1637=)
c.2841T= (p.Ala947=)
c.8214T= (p.Ala2738=)
c.8160T= (p.Ala2720=)
c.7950T= (p.Ala2650=)
c.7596T= (p.Ala2532=)
c.5493T= (p.Ala1831=)
n.8443T=
c.8079T= (p.Ala2693=)
c.7275T= (p.Ala2425=)
c.7080T= (p.Ala2360=)
n.8437T=
n.8383T=
n.8492T=
5g.37153845A>CCA3237836CPLANE1n.1267T>G
c.8268T>G (p.Ala2756=)
c.8106T>G (p.Ala2702=)
c.5280T>G (p.Ala1760=)
n.510T>G
c.1382T>G
c.5304T>G (p.Ala1768=)
c.8265T>G (p.Ala2755=)
c.8157T>G (p.Ala2719=)
c.8139T>G (p.Ala2713=)
c.4911T>G (p.Ala1637=)
c.2841T>G (p.Ala947=)
c.8214T>G (p.Ala2738=)
c.8160T>G (p.Ala2720=)
c.7950T>G (p.Ala2650=)
c.7596T>G (p.Ala2532=)
c.5493T>G (p.Ala1831=)
n.8443T>G
c.8079T>G (p.Ala2693=)
c.7275T>G (p.Ala2425=)
c.7080T>G (p.Ala2360=)
n.8437T>G
n.8383T>G
n.8492T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37153845A>GCA444096684CPLANE1n.1267T>C
c.8268T>C (p.Ala2756=)
c.8106T>C (p.Ala2702=)
c.5280T>C (p.Ala1760=)
n.510T>C
c.1382T>C
c.5304T>C (p.Ala1768=)
c.8265T>C (p.Ala2755=)
c.8157T>C (p.Ala2719=)
c.8139T>C (p.Ala2713=)
c.4911T>C (p.Ala1637=)
c.2841T>C (p.Ala947=)
c.8214T>C (p.Ala2738=)
c.8160T>C (p.Ala2720=)
c.7950T>C (p.Ala2650=)
c.7596T>C (p.Ala2532=)
c.5493T>C (p.Ala1831=)
n.8443T>C
c.8079T>C (p.Ala2693=)
c.7275T>C (p.Ala2425=)
c.7080T>C (p.Ala2360=)
n.8437T>C
n.8383T>C
n.8492T>C
 gnomAD v4
5g.37153845A>TCA444096682CPLANE1n.1267T>A
c.8268T>A (p.Ala2756=)
c.8106T>A (p.Ala2702=)
c.5280T>A (p.Ala1760=)
n.510T>A
c.1382T>A
c.5304T>A (p.Ala1768=)
c.8265T>A (p.Ala2755=)
c.8157T>A (p.Ala2719=)
c.8139T>A (p.Ala2713=)
c.4911T>A (p.Ala1637=)
c.2841T>A (p.Ala947=)
c.8214T>A (p.Ala2738=)
c.8160T>A (p.Ala2720=)
c.7950T>A (p.Ala2650=)
c.7596T>A (p.Ala2532=)
c.5493T>A (p.Ala1831=)
n.8443T>A
c.8079T>A (p.Ala2693=)
c.7275T>A (p.Ala2425=)
c.7080T>A (p.Ala2360=)
n.8437T>A
n.8383T>A
n.8492T>A
5g.37153846G>ACA359473917CPLANE1n.1266C>T
c.8267C>T (p.Ala2756Val)
c.8105C>T (p.Ala2702Val)
c.5279C>T (p.Ala1760Val)
n.509C>T
c.1381C>T
c.5303C>T (p.Ala1768Val)
c.8264C>T (p.Ala2755Val)
c.8156C>T (p.Ala2719Val)
c.8138C>T (p.Ala2713Val)
c.4910C>T (p.Ala1637Val)
c.2840C>T (p.Ala947Val)
c.8213C>T (p.Ala2738Val)
c.8159C>T (p.Ala2720Val)
c.7949C>T (p.Ala2650Val)
c.7595C>T (p.Ala2532Val)
c.5492C>T (p.Ala1831Val)
n.8442C>T
c.8078C>T (p.Ala2693Val)
c.7274C>T (p.Ala2425Val)
c.7079C>T (p.Ala2360Val)
n.8436C>T
n.8382C>T
n.8491C>T
 ClinVar
5g.37153846G>CCA359473918CPLANE1n.1266C>G
c.8267C>G (p.Ala2756Gly)
c.8105C>G (p.Ala2702Gly)
c.5279C>G (p.Ala1760Gly)
n.509C>G
c.1381C>G
c.5303C>G (p.Ala1768Gly)
c.8264C>G (p.Ala2755Gly)
c.8156C>G (p.Ala2719Gly)
c.8138C>G (p.Ala2713Gly)
c.4910C>G (p.Ala1637Gly)
c.2840C>G (p.Ala947Gly)
c.8213C>G (p.Ala2738Gly)
c.8159C>G (p.Ala2720Gly)
c.7949C>G (p.Ala2650Gly)
c.7595C>G (p.Ala2532Gly)
c.5492C>G (p.Ala1831Gly)
n.8442C>G
c.8078C>G (p.Ala2693Gly)
c.7274C>G (p.Ala2425Gly)
c.7079C>G (p.Ala2360Gly)
n.8436C>G
n.8382C>G
n.8491C>G
5g.37153846G>TCA359473920CPLANE1n.1266C>A
c.8267C>A (p.Ala2756Asp)
c.8105C>A (p.Ala2702Asp)
c.5279C>A (p.Ala1760Asp)
n.509C>A
c.1381C>A
c.5303C>A (p.Ala1768Asp)
c.8264C>A (p.Ala2755Asp)
c.8156C>A (p.Ala2719Asp)
c.8138C>A (p.Ala2713Asp)
c.4910C>A (p.Ala1637Asp)
c.2840C>A (p.Ala947Asp)
c.8213C>A (p.Ala2738Asp)
c.8159C>A (p.Ala2720Asp)
c.7949C>A (p.Ala2650Asp)
c.7595C>A (p.Ala2532Asp)
c.5492C>A (p.Ala1831Asp)
n.8442C>A
c.8078C>A (p.Ala2693Asp)
c.7274C>A (p.Ala2425Asp)
c.7079C>A (p.Ala2360Asp)
n.8436C>A
n.8382C>A
n.8491C>A
5g.37153847C>ACA359473922CPLANE1n.1265G>T
c.8266G>T (p.Ala2756Ser)
c.8104G>T (p.Ala2702Ser)
c.5278G>T (p.Ala1760Ser)
n.508G>T
c.1380G>T
c.5302G>T (p.Ala1768Ser)
c.8263G>T (p.Ala2755Ser)
c.8155G>T (p.Ala2719Ser)
c.8137G>T (p.Ala2713Ser)
c.4909G>T (p.Ala1637Ser)
c.2839G>T (p.Ala947Ser)
c.8212G>T (p.Ala2738Ser)
c.8158G>T (p.Ala2720Ser)
c.7948G>T (p.Ala2650Ser)
c.7594G>T (p.Ala2532Ser)
c.5491G>T (p.Ala1831Ser)
n.8441G>T
c.8077G>T (p.Ala2693Ser)
c.7273G>T (p.Ala2425Ser)
c.7078G>T (p.Ala2360Ser)
n.8435G>T
n.8381G>T
n.8490G>T
 dbSNP gnomAD v2 gnomAD v4
5g.37153847C=CA1539651147CPLANE1n.1265G=
c.8266G= (p.Ala2756=)
c.8104G= (p.Ala2702=)
c.5278G= (p.Ala1760=)
n.508G=
c.1380G=
c.5302G= (p.Ala1768=)
c.8263G= (p.Ala2755=)
c.8155G= (p.Ala2719=)
c.8137G= (p.Ala2713=)
c.4909G= (p.Ala1637=)
c.2839G= (p.Ala947=)
c.8212G= (p.Ala2738=)
c.8158G= (p.Ala2720=)
c.7948G= (p.Ala2650=)
c.7594G= (p.Ala2532=)
c.5491G= (p.Ala1831=)
n.8441G=
c.8077G= (p.Ala2693=)
c.7273G= (p.Ala2425=)
c.7078G= (p.Ala2360=)
n.8435G=
n.8381G=
n.8490G=
5g.37153847C>GCA359473923CPLANE1n.1265G>C
c.8266G>C (p.Ala2756Pro)
c.8104G>C (p.Ala2702Pro)
c.5278G>C (p.Ala1760Pro)
n.508G>C
c.1380G>C
c.5302G>C (p.Ala1768Pro)
c.8263G>C (p.Ala2755Pro)
c.8155G>C (p.Ala2719Pro)
c.8137G>C (p.Ala2713Pro)
c.4909G>C (p.Ala1637Pro)
c.2839G>C (p.Ala947Pro)
c.8212G>C (p.Ala2738Pro)
c.8158G>C (p.Ala2720Pro)
c.7948G>C (p.Ala2650Pro)
c.7594G>C (p.Ala2532Pro)
c.5491G>C (p.Ala1831Pro)
n.8441G>C
c.8077G>C (p.Ala2693Pro)
c.7273G>C (p.Ala2425Pro)
c.7078G>C (p.Ala2360Pro)
n.8435G>C
n.8381G>C
n.8490G>C
5g.37153847C>TCA359473925CPLANE1n.1265G>A
c.8266G>A (p.Ala2756Thr)
c.8104G>A (p.Ala2702Thr)
c.5278G>A (p.Ala1760Thr)
n.508G>A
c.1380G>A
c.5302G>A (p.Ala1768Thr)
c.8263G>A (p.Ala2755Thr)
c.8155G>A (p.Ala2719Thr)
c.8137G>A (p.Ala2713Thr)
c.4909G>A (p.Ala1637Thr)
c.2839G>A (p.Ala947Thr)
c.8212G>A (p.Ala2738Thr)
c.8158G>A (p.Ala2720Thr)
c.7948G>A (p.Ala2650Thr)
c.7594G>A (p.Ala2532Thr)
c.5491G>A (p.Ala1831Thr)
n.8441G>A
c.8077G>A (p.Ala2693Thr)
c.7273G>A (p.Ala2425Thr)
c.7078G>A (p.Ala2360Thr)
n.8435G>A
n.8381G>A
n.8490G>A
5g.37153848A=CA1539651157CPLANE1n.1264T=
c.8265T= (p.Ser2755=)
c.8103T= (p.Ser2701=)
c.5277T= (p.Ser1759=)
n.507T=
c.1379T=
c.5301T= (p.Ser1767=)
c.8262T= (p.Ser2754=)
c.8154T= (p.Ser2718=)
c.8136T= (p.Ser2712=)
c.4908T= (p.Ser1636=)
c.2838T= (p.Ser946=)
c.8211T= (p.Ser2737=)
c.8157T= (p.Ser2719=)
c.7947T= (p.Ser2649=)
c.7593T= (p.Ser2531=)
c.5490T= (p.Ser1830=)
n.8440T=
c.8076T= (p.Ser2692=)
c.7272T= (p.Ser2424=)
c.7077T= (p.Ser2359=)
n.8434T=
n.8380T=
n.8489T=
5g.37153848A>CCA3237837CPLANE1n.1264T>G
c.8265T>G (p.Ser2755Arg)
c.8103T>G (p.Ser2701Arg)
c.5277T>G (p.Ser1759Arg)
n.507T>G
c.1379T>G
c.5301T>G (p.Ser1767Arg)
c.8262T>G (p.Ser2754Arg)
c.8154T>G (p.Ser2718Arg)
c.8136T>G (p.Ser2712Arg)
c.4908T>G (p.Ser1636Arg)
c.2838T>G (p.Ser946Arg)
c.8211T>G (p.Ser2737Arg)
c.8157T>G (p.Ser2719Arg)
c.7947T>G (p.Ser2649Arg)
c.7593T>G (p.Ser2531Arg)
c.5490T>G (p.Ser1830Arg)
n.8440T>G
c.8076T>G (p.Ser2692Arg)
c.7272T>G (p.Ser2424Arg)
c.7077T>G (p.Ser2359Arg)
n.8434T>G
n.8380T>G
n.8489T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37153848A>GCA444096686CPLANE1n.1264T>C
c.8265T>C (p.Ser2755=)
c.8103T>C (p.Ser2701=)
c.5277T>C (p.Ser1759=)
n.507T>C
c.1379T>C
c.5301T>C (p.Ser1767=)
c.8262T>C (p.Ser2754=)
c.8154T>C (p.Ser2718=)
c.8136T>C (p.Ser2712=)
c.4908T>C (p.Ser1636=)
c.2838T>C (p.Ser946=)
c.8211T>C (p.Ser2737=)
c.8157T>C (p.Ser2719=)
c.7947T>C (p.Ser2649=)
c.7593T>C (p.Ser2531=)
c.5490T>C (p.Ser1830=)
n.8440T>C
c.8076T>C (p.Ser2692=)
c.7272T>C (p.Ser2424=)
c.7077T>C (p.Ser2359=)
n.8434T>C
n.8380T>C
n.8489T>C
 gnomAD v4
5g.37153848A>TCA359473926CPLANE1n.1264T>A
c.8265T>A (p.Ser2755Arg)
c.8103T>A (p.Ser2701Arg)
c.5277T>A (p.Ser1759Arg)
n.507T>A
c.1379T>A
c.5301T>A (p.Ser1767Arg)
c.8262T>A (p.Ser2754Arg)
c.8154T>A (p.Ser2718Arg)
c.8136T>A (p.Ser2712Arg)
c.4908T>A (p.Ser1636Arg)
c.2838T>A (p.Ser946Arg)
c.8211T>A (p.Ser2737Arg)
c.8157T>A (p.Ser2719Arg)
c.7947T>A (p.Ser2649Arg)
c.7593T>A (p.Ser2531Arg)
c.5490T>A (p.Ser1830Arg)
n.8440T>A
c.8076T>A (p.Ser2692Arg)
c.7272T>A (p.Ser2424Arg)
c.7077T>A (p.Ser2359Arg)
n.8434T>A
n.8380T>A
n.8489T>A
5g.37153849C>ACA359473928CPLANE1n.1263G>T
c.8264G>T (p.Ser2755Ile)
c.8102G>T (p.Ser2701Ile)
c.5276G>T (p.Ser1759Ile)
n.506G>T
c.1378G>T
c.5300G>T (p.Ser1767Ile)
c.8261G>T (p.Ser2754Ile)
c.8153G>T (p.Ser2718Ile)
c.8135G>T (p.Ser2712Ile)
c.4907G>T (p.Ser1636Ile)
c.2837G>T (p.Ser946Ile)
c.8210G>T (p.Ser2737Ile)
c.8156G>T (p.Ser2719Ile)
c.7946G>T (p.Ser2649Ile)
c.7592G>T (p.Ser2531Ile)
c.5489G>T (p.Ser1830Ile)
n.8439G>T
c.8075G>T (p.Ser2692Ile)
c.7271G>T (p.Ser2424Ile)
c.7076G>T (p.Ser2359Ile)
n.8433G>T
n.8379G>T
n.8488G>T
5g.37153849C=CA1539651162CPLANE1n.1263G=
c.8264G= (p.Ser2755=)
c.8102G= (p.Ser2701=)
c.5276G= (p.Ser1759=)
n.506G=
c.1378G=
c.5300G= (p.Ser1767=)
c.8261G= (p.Ser2754=)
c.8153G= (p.Ser2718=)
c.8135G= (p.Ser2712=)
c.4907G= (p.Ser1636=)
c.2837G= (p.Ser946=)
c.8210G= (p.Ser2737=)
c.8156G= (p.Ser2719=)
c.7946G= (p.Ser2649=)
c.7592G= (p.Ser2531=)
c.5489G= (p.Ser1830=)
n.8439G=
c.8075G= (p.Ser2692=)
c.7271G= (p.Ser2424=)
c.7076G= (p.Ser2359=)
n.8433G=
n.8379G=
n.8488G=
5g.37153849C>GCA359473929CPLANE1n.1263G>C
c.8264G>C (p.Ser2755Thr)
c.8102G>C (p.Ser2701Thr)
c.5276G>C (p.Ser1759Thr)
n.506G>C
c.1378G>C
c.5300G>C (p.Ser1767Thr)
c.8261G>C (p.Ser2754Thr)
c.8153G>C (p.Ser2718Thr)
c.8135G>C (p.Ser2712Thr)
c.4907G>C (p.Ser1636Thr)
c.2837G>C (p.Ser946Thr)
c.8210G>C (p.Ser2737Thr)
c.8156G>C (p.Ser2719Thr)
c.7946G>C (p.Ser2649Thr)
c.7592G>C (p.Ser2531Thr)
c.5489G>C (p.Ser1830Thr)
n.8439G>C
c.8075G>C (p.Ser2692Thr)
c.7271G>C (p.Ser2424Thr)
c.7076G>C (p.Ser2359Thr)
n.8433G>C
n.8379G>C
n.8488G>C
5g.37153849C>TCA117042985CPLANE1n.1263G>A
c.8264G>A (p.Ser2755Asn)
c.8102G>A (p.Ser2701Asn)
c.5276G>A (p.Ser1759Asn)
n.506G>A
c.1378G>A
c.5300G>A (p.Ser1767Asn)
c.8261G>A (p.Ser2754Asn)
c.8153G>A (p.Ser2718Asn)
c.8135G>A (p.Ser2712Asn)
c.4907G>A (p.Ser1636Asn)
c.2837G>A (p.Ser946Asn)
c.8210G>A (p.Ser2737Asn)
c.8156G>A (p.Ser2719Asn)
c.7946G>A (p.Ser2649Asn)
c.7592G>A (p.Ser2531Asn)
c.5489G>A (p.Ser1830Asn)
n.8439G>A
c.8075G>A (p.Ser2692Asn)
c.7271G>A (p.Ser2424Asn)
c.7076G>A (p.Ser2359Asn)
n.8433G>A
n.8379G>A
n.8488G>A
 dbSNP gnomAD v4
5g.37153850T>ACA359473934CPLANE1n.1262A>T
c.8263A>T (p.Ser2755Cys)
c.8101A>T (p.Ser2701Cys)
c.5275A>T (p.Ser1759Cys)
n.505A>T
c.1377A>T
c.5299A>T (p.Ser1767Cys)
c.8260A>T (p.Ser2754Cys)
c.8152A>T (p.Ser2718Cys)
c.8134A>T (p.Ser2712Cys)
c.4906A>T (p.Ser1636Cys)
c.2836A>T (p.Ser946Cys)
c.8209A>T (p.Ser2737Cys)
c.8155A>T (p.Ser2719Cys)
c.7945A>T (p.Ser2649Cys)
c.7591A>T (p.Ser2531Cys)
c.5488A>T (p.Ser1830Cys)
n.8438A>T
c.8074A>T (p.Ser2692Cys)
c.7270A>T (p.Ser2424Cys)
c.7075A>T (p.Ser2359Cys)
n.8432A>T
n.8378A>T
n.8487A>T
5g.37153850T>CCA359473937CPLANE1n.1262A>G
c.8263A>G (p.Ser2755Gly)
c.8101A>G (p.Ser2701Gly)
c.5275A>G (p.Ser1759Gly)
n.505A>G
c.1377A>G
c.5299A>G (p.Ser1767Gly)
c.8260A>G (p.Ser2754Gly)
c.8152A>G (p.Ser2718Gly)
c.8134A>G (p.Ser2712Gly)
c.4906A>G (p.Ser1636Gly)
c.2836A>G (p.Ser946Gly)
c.8209A>G (p.Ser2737Gly)
c.8155A>G (p.Ser2719Gly)
c.7945A>G (p.Ser2649Gly)
c.7591A>G (p.Ser2531Gly)
c.5488A>G (p.Ser1830Gly)
n.8438A>G
c.8074A>G (p.Ser2692Gly)
c.7270A>G (p.Ser2424Gly)
c.7075A>G (p.Ser2359Gly)
n.8432A>G
n.8378A>G
n.8487A>G
5g.37153850T>GCA359473939CPLANE1n.1262A>C
c.8263A>C (p.Ser2755Arg)
c.8101A>C (p.Ser2701Arg)
c.5275A>C (p.Ser1759Arg)
n.505A>C
c.1377A>C
c.5299A>C (p.Ser1767Arg)
c.8260A>C (p.Ser2754Arg)
c.8152A>C (p.Ser2718Arg)
c.8134A>C (p.Ser2712Arg)
c.4906A>C (p.Ser1636Arg)
c.2836A>C (p.Ser946Arg)
c.8209A>C (p.Ser2737Arg)
c.8155A>C (p.Ser2719Arg)
c.7945A>C (p.Ser2649Arg)
c.7591A>C (p.Ser2531Arg)
c.5488A>C (p.Ser1830Arg)
n.8438A>C
c.8074A>C (p.Ser2692Arg)
c.7270A>C (p.Ser2424Arg)
c.7075A>C (p.Ser2359Arg)
n.8432A>C
n.8378A>C
n.8487A>C
 gnomAD v4
5g.37153851G>ACA444096688CPLANE1n.1261C>T
c.8262C>T (p.Leu2754=)
c.8100C>T (p.Leu2700=)
c.5274C>T (p.Leu1758=)
n.504C>T
c.1376C>T
c.5298C>T (p.Leu1766=)
c.8259C>T (p.Leu2753=)
c.8151C>T (p.Leu2717=)
c.8133C>T (p.Leu2711=)
c.4905C>T (p.Leu1635=)
c.2835C>T (p.Leu945=)
c.8208C>T (p.Leu2736=)
c.8154C>T (p.Leu2718=)
c.7944C>T (p.Leu2648=)
c.7590C>T (p.Leu2530=)
c.5487C>T (p.Leu1829=)
n.8437C>T
c.8073C>T (p.Leu2691=)
c.7269C>T (p.Leu2423=)
c.7074C>T (p.Leu2358=)
n.8431C>T
n.8377C>T
n.8486C>T
5g.37153851G>CCA444096690CPLANE1n.1261C>G
c.8262C>G (p.Leu2754=)
c.8100C>G (p.Leu2700=)
c.5274C>G (p.Leu1758=)
n.504C>G
c.1376C>G
c.5298C>G (p.Leu1766=)
c.8259C>G (p.Leu2753=)
c.8151C>G (p.Leu2717=)
c.8133C>G (p.Leu2711=)
c.4905C>G (p.Leu1635=)
c.2835C>G (p.Leu945=)
c.8208C>G (p.Leu2736=)
c.8154C>G (p.Leu2718=)
c.7944C>G (p.Leu2648=)
c.7590C>G (p.Leu2530=)
c.5487C>G (p.Leu1829=)
n.8437C>G
c.8073C>G (p.Leu2691=)
c.7269C>G (p.Leu2423=)
c.7074C>G (p.Leu2358=)
n.8431C>G
n.8377C>G
n.8486C>G
 COSMIC COSMIC
5g.37153851G>TCA444096689CPLANE1n.1261C>A
c.8262C>A (p.Leu2754=)
c.8100C>A (p.Leu2700=)
c.5274C>A (p.Leu1758=)
n.504C>A
c.1376C>A
c.5298C>A (p.Leu1766=)
c.8259C>A (p.Leu2753=)
c.8151C>A (p.Leu2717=)
c.8133C>A (p.Leu2711=)
c.4905C>A (p.Leu1635=)
c.2835C>A (p.Leu945=)
c.8208C>A (p.Leu2736=)
c.8154C>A (p.Leu2718=)
c.7944C>A (p.Leu2648=)
c.7590C>A (p.Leu2530=)
c.5487C>A (p.Leu1829=)
n.8437C>A
c.8073C>A (p.Leu2691=)
c.7269C>A (p.Leu2423=)
c.7074C>A (p.Leu2358=)
n.8431C>A
n.8377C>A
n.8486C>A
5g.37153852A>CCA359473942CPLANE1n.1260T>G
c.8261T>G (p.Leu2754Arg)
c.8099T>G (p.Leu2700Arg)
c.5273T>G (p.Leu1758Arg)
n.503T>G
c.1375T>G
c.5297T>G (p.Leu1766Arg)
c.8258T>G (p.Leu2753Arg)
c.8150T>G (p.Leu2717Arg)
c.8132T>G (p.Leu2711Arg)
c.4904T>G (p.Leu1635Arg)
c.2834T>G (p.Leu945Arg)
c.8207T>G (p.Leu2736Arg)
c.8153T>G (p.Leu2718Arg)
c.7943T>G (p.Leu2648Arg)
c.7589T>G (p.Leu2530Arg)
c.5486T>G (p.Leu1829Arg)
n.8436T>G
c.8072T>G (p.Leu2691Arg)
c.7268T>G (p.Leu2423Arg)
c.7073T>G (p.Leu2358Arg)
n.8430T>G
n.8376T>G
n.8485T>G
5g.37153852A>GCA359473944CPLANE1n.1260T>C
c.8261T>C (p.Leu2754Pro)
c.8099T>C (p.Leu2700Pro)
c.5273T>C (p.Leu1758Pro)
n.503T>C
c.1375T>C
c.5297T>C (p.Leu1766Pro)
c.8258T>C (p.Leu2753Pro)
c.8150T>C (p.Leu2717Pro)
c.8132T>C (p.Leu2711Pro)
c.4904T>C (p.Leu1635Pro)
c.2834T>C (p.Leu945Pro)
c.8207T>C (p.Leu2736Pro)
c.8153T>C (p.Leu2718Pro)
c.7943T>C (p.Leu2648Pro)
c.7589T>C (p.Leu2530Pro)
c.5486T>C (p.Leu1829Pro)
n.8436T>C
c.8072T>C (p.Leu2691Pro)
c.7268T>C (p.Leu2423Pro)
c.7073T>C (p.Leu2358Pro)
n.8430T>C
n.8376T>C
n.8485T>C
 COSMIC COSMIC
5g.37153852A>TCA359473943CPLANE1n.1260T>A
c.8261T>A (p.Leu2754His)
c.8099T>A (p.Leu2700His)
c.5273T>A (p.Leu1758His)
n.503T>A
c.1375T>A
c.5297T>A (p.Leu1766His)
c.8258T>A (p.Leu2753His)
c.8150T>A (p.Leu2717His)
c.8132T>A (p.Leu2711His)
c.4904T>A (p.Leu1635His)
c.2834T>A (p.Leu945His)
c.8207T>A (p.Leu2736His)
c.8153T>A (p.Leu2718His)
c.7943T>A (p.Leu2648His)
c.7589T>A (p.Leu2530His)
c.5486T>A (p.Leu1829His)
n.8436T>A
c.8072T>A (p.Leu2691His)
c.7268T>A (p.Leu2423His)
c.7073T>A (p.Leu2358His)
n.8430T>A
n.8376T>A
n.8485T>A
5g.37153853G>ACA359473946CPLANE1n.1259C>T
c.8260C>T (p.Leu2754Phe)
c.8098C>T (p.Leu2700Phe)
c.5272C>T (p.Leu1758Phe)
n.502C>T
c.1374C>T
c.5296C>T (p.Leu1766Phe)
c.8257C>T (p.Leu2753Phe)
c.8149C>T (p.Leu2717Phe)
c.8131C>T (p.Leu2711Phe)
c.4903C>T (p.Leu1635Phe)
c.2833C>T (p.Leu945Phe)
c.8206C>T (p.Leu2736Phe)
c.8152C>T (p.Leu2718Phe)
c.7942C>T (p.Leu2648Phe)
c.7588C>T (p.Leu2530Phe)
c.5485C>T (p.Leu1829Phe)
n.8435C>T
c.8071C>T (p.Leu2691Phe)
c.7267C>T (p.Leu2423Phe)
c.7072C>T (p.Leu2358Phe)
n.8429C>T
n.8375C>T
n.8484C>T
5g.37153853G>CCA359473948CPLANE1n.1259C>G
c.8260C>G (p.Leu2754Val)
c.8098C>G (p.Leu2700Val)
c.5272C>G (p.Leu1758Val)
n.502C>G
c.1374C>G
c.5296C>G (p.Leu1766Val)
c.8257C>G (p.Leu2753Val)
c.8149C>G (p.Leu2717Val)
c.8131C>G (p.Leu2711Val)
c.4903C>G (p.Leu1635Val)
c.2833C>G (p.Leu945Val)
c.8206C>G (p.Leu2736Val)
c.8152C>G (p.Leu2718Val)
c.7942C>G (p.Leu2648Val)
c.7588C>G (p.Leu2530Val)
c.5485C>G (p.Leu1829Val)
n.8435C>G
c.8071C>G (p.Leu2691Val)
c.7267C>G (p.Leu2423Val)
c.7072C>G (p.Leu2358Val)
n.8429C>G
n.8375C>G
n.8484C>G
5g.37153853G>TCA359473949CPLANE1n.1259C>A
c.8260C>A (p.Leu2754Ile)
c.8098C>A (p.Leu2700Ile)
c.5272C>A (p.Leu1758Ile)
n.502C>A
c.1374C>A
c.5296C>A (p.Leu1766Ile)
c.8257C>A (p.Leu2753Ile)
c.8149C>A (p.Leu2717Ile)
c.8131C>A (p.Leu2711Ile)
c.4903C>A (p.Leu1635Ile)
c.2833C>A (p.Leu945Ile)
c.8206C>A (p.Leu2736Ile)
c.8152C>A (p.Leu2718Ile)
c.7942C>A (p.Leu2648Ile)
c.7588C>A (p.Leu2530Ile)
c.5485C>A (p.Leu1829Ile)
n.8435C>A
c.8071C>A (p.Leu2691Ile)
c.7267C>A (p.Leu2423Ile)
c.7072C>A (p.Leu2358Ile)
n.8429C>A
n.8375C>A
n.8484C>A
5g.37153854A=CA1539651171CPLANE1n.1258T=
c.8259T= (p.His2753=)
c.8097T= (p.His2699=)
c.5271T= (p.His1757=)
n.501T=
c.1373T=
c.5295T= (p.His1765=)
c.8256T= (p.His2752=)
c.8148T= (p.His2716=)
c.8130T= (p.His2710=)
c.4902T= (p.His1634=)
c.2832T= (p.His944=)
c.8205T= (p.His2735=)
c.8151T= (p.His2717=)
c.7941T= (p.His2647=)
c.7587T= (p.His2529=)
c.5484T= (p.His1828=)
n.8434T=
c.8070T= (p.His2690=)
c.7266T= (p.His2422=)
c.7071T= (p.His2357=)
n.8428T=
n.8374T=
n.8483T=
5g.37153854A>CCA359473951CPLANE1n.1258T>G
c.8259T>G (p.His2753Gln)
c.8097T>G (p.His2699Gln)
c.5271T>G (p.His1757Gln)
n.501T>G
c.1373T>G
c.5295T>G (p.His1765Gln)
c.8256T>G (p.His2752Gln)
c.8148T>G (p.His2716Gln)
c.8130T>G (p.His2710Gln)
c.4902T>G (p.His1634Gln)
c.2832T>G (p.His944Gln)
c.8205T>G (p.His2735Gln)
c.8151T>G (p.His2717Gln)
c.7941T>G (p.His2647Gln)
c.7587T>G (p.His2529Gln)
c.5484T>G (p.His1828Gln)
n.8434T>G
c.8070T>G (p.His2690Gln)
c.7266T>G (p.His2422Gln)
c.7071T>G (p.His2357Gln)
n.8428T>G
n.8374T>G
n.8483T>G
5g.37153854A>GCA444096691CPLANE1n.1258T>C
c.8259T>C (p.His2753=)
c.8097T>C (p.His2699=)
c.5271T>C (p.His1757=)
n.501T>C
c.1373T>C
c.5295T>C (p.His1765=)
c.8256T>C (p.His2752=)
c.8148T>C (p.His2716=)
c.8130T>C (p.His2710=)
c.4902T>C (p.His1634=)
c.2832T>C (p.His944=)
c.8205T>C (p.His2735=)
c.8151T>C (p.His2717=)
c.7941T>C (p.His2647=)
c.7587T>C (p.His2529=)
c.5484T>C (p.His1828=)
n.8434T>C
c.8070T>C (p.His2690=)
c.7266T>C (p.His2422=)
c.7071T>C (p.His2357=)
n.8428T>C
n.8374T>C
n.8483T>C
5g.37153854A>TCA359473952CPLANE1n.1258T>A
c.8259T>A (p.His2753Gln)
c.8097T>A (p.His2699Gln)
c.5271T>A (p.His1757Gln)
n.501T>A
c.1373T>A
c.5295T>A (p.His1765Gln)
c.8256T>A (p.His2752Gln)
c.8148T>A (p.His2716Gln)
c.8130T>A (p.His2710Gln)
c.4902T>A (p.His1634Gln)
c.2832T>A (p.His944Gln)
c.8205T>A (p.His2735Gln)
c.8151T>A (p.His2717Gln)
c.7941T>A (p.His2647Gln)
c.7587T>A (p.His2529Gln)
c.5484T>A (p.His1828Gln)
n.8434T>A
c.8070T>A (p.His2690Gln)
c.7266T>A (p.His2422Gln)
c.7071T>A (p.His2357Gln)
n.8428T>A
n.8374T>A
n.8483T>A
 dbSNP
5g.37153855T>ACA359473954CPLANE1n.1257A>T
c.8258A>T (p.His2753Leu)
c.8096A>T (p.His2699Leu)
c.5270A>T (p.His1757Leu)
n.500A>T
c.1372A>T
c.5294A>T (p.His1765Leu)
c.8255A>T (p.His2752Leu)
c.8147A>T (p.His2716Leu)
c.8129A>T (p.His2710Leu)
c.4901A>T (p.His1634Leu)
c.2831A>T (p.His944Leu)
c.8204A>T (p.His2735Leu)
c.8150A>T (p.His2717Leu)
c.7940A>T (p.His2647Leu)
c.7586A>T (p.His2529Leu)
c.5483A>T (p.His1828Leu)
n.8433A>T
c.8069A>T (p.His2690Leu)
c.7265A>T (p.His2422Leu)
c.7070A>T (p.His2357Leu)
n.8427A>T
n.8373A>T
n.8482A>T
5g.37153855T>CCA117042994CPLANE1n.1257A>G
c.8258A>G (p.His2753Arg)
c.8096A>G (p.His2699Arg)
c.5270A>G (p.His1757Arg)
n.500A>G
c.1372A>G
c.5294A>G (p.His1765Arg)
c.8255A>G (p.His2752Arg)
c.8147A>G (p.His2716Arg)
c.8129A>G (p.His2710Arg)
c.4901A>G (p.His1634Arg)
c.2831A>G (p.His944Arg)
c.8204A>G (p.His2735Arg)
c.8150A>G (p.His2717Arg)
c.7940A>G (p.His2647Arg)
c.7586A>G (p.His2529Arg)
c.5483A>G (p.His1828Arg)
n.8433A>G
c.8069A>G (p.His2690Arg)
c.7265A>G (p.His2422Arg)
c.7070A>G (p.His2357Arg)
n.8427A>G
n.8373A>G
n.8482A>G
 dbSNP
5g.37153855T>GCA359473956CPLANE1n.1257A>C
c.8258A>C (p.His2753Pro)
c.8096A>C (p.His2699Pro)
c.5270A>C (p.His1757Pro)
n.500A>C
c.1372A>C
c.5294A>C (p.His1765Pro)
c.8255A>C (p.His2752Pro)
c.8147A>C (p.His2716Pro)
c.8129A>C (p.His2710Pro)
c.4901A>C (p.His1634Pro)
c.2831A>C (p.His944Pro)
c.8204A>C (p.His2735Pro)
c.8150A>C (p.His2717Pro)
c.7940A>C (p.His2647Pro)
c.7586A>C (p.His2529Pro)
c.5483A>C (p.His1828Pro)
n.8433A>C
c.8069A>C (p.His2690Pro)
c.7265A>C (p.His2422Pro)
c.7070A>C (p.His2357Pro)
n.8427A>C
n.8373A>C
n.8482A>C
5g.37153855T=CA1539651172CPLANE1n.1257A=
c.8258A= (p.His2753=)
c.8096A= (p.His2699=)
c.5270A= (p.His1757=)
n.500A=
c.1372A=
c.5294A= (p.His1765=)
c.8255A= (p.His2752=)
c.8147A= (p.His2716=)
c.8129A= (p.His2710=)
c.4901A= (p.His1634=)
c.2831A= (p.His944=)
c.8204A= (p.His2735=)
c.8150A= (p.His2717=)
c.7940A= (p.His2647=)
c.7586A= (p.His2529=)
c.5483A= (p.His1828=)
n.8433A=
c.8069A= (p.His2690=)
c.7265A= (p.His2422=)
c.7070A= (p.His2357=)
n.8427A=
n.8373A=
n.8482A=
5g.37153856G>ACA359473957CPLANE1n.1256C>T
c.8257C>T (p.His2753Tyr)
c.8095C>T (p.His2699Tyr)
c.5269C>T (p.His1757Tyr)
n.499C>T
c.1371C>T
c.5293C>T (p.His1765Tyr)
c.8254C>T (p.His2752Tyr)
c.8146C>T (p.His2716Tyr)
c.8128C>T (p.His2710Tyr)
c.4900C>T (p.His1634Tyr)
c.2830C>T (p.His944Tyr)
c.8203C>T (p.His2735Tyr)
c.8149C>T (p.His2717Tyr)
c.7939C>T (p.His2647Tyr)
c.7585C>T (p.His2529Tyr)
c.5482C>T (p.His1828Tyr)
n.8432C>T
c.8068C>T (p.His2690Tyr)
c.7264C>T (p.His2422Tyr)
c.7069C>T (p.His2357Tyr)
n.8426C>T
n.8372C>T
n.8481C>T
5g.37153856G>CCA359473959CPLANE1n.1256C>G
c.8257C>G (p.His2753Asp)
c.8095C>G (p.His2699Asp)
c.5269C>G (p.His1757Asp)
n.499C>G
c.1371C>G
c.5293C>G (p.His1765Asp)
c.8254C>G (p.His2752Asp)
c.8146C>G (p.His2716Asp)
c.8128C>G (p.His2710Asp)
c.4900C>G (p.His1634Asp)
c.2830C>G (p.His944Asp)
c.8203C>G (p.His2735Asp)
c.8149C>G (p.His2717Asp)
c.7939C>G (p.His2647Asp)
c.7585C>G (p.His2529Asp)
c.5482C>G (p.His1828Asp)
n.8432C>G
c.8068C>G (p.His2690Asp)
c.7264C>G (p.His2422Asp)
c.7069C>G (p.His2357Asp)
n.8426C>G
n.8372C>G
n.8481C>G
5g.37153856G>TCA359473961CPLANE1n.1256C>A
c.8257C>A (p.His2753Asn)
c.8095C>A (p.His2699Asn)
c.5269C>A (p.His1757Asn)
n.499C>A
c.1371C>A
c.5293C>A (p.His1765Asn)
c.8254C>A (p.His2752Asn)
c.8146C>A (p.His2716Asn)
c.8128C>A (p.His2710Asn)
c.4900C>A (p.His1634Asn)
c.2830C>A (p.His944Asn)
c.8203C>A (p.His2735Asn)
c.8149C>A (p.His2717Asn)
c.7939C>A (p.His2647Asn)
c.7585C>A (p.His2529Asn)
c.5482C>A (p.His1828Asn)
n.8432C>A
c.8068C>A (p.His2690Asn)
c.7264C>A (p.His2422Asn)
c.7069C>A (p.His2357Asn)
n.8426C>A
n.8372C>A
n.8481C>A
 gnomAD v4
5g.37153857C>ACA359473964CPLANE1n.1255G>T
c.8256G>T (p.Glu2752Asp)
c.8094G>T (p.Glu2698Asp)
c.5268G>T (p.Glu1756Asp)
n.498G>T
c.1370G>T
c.5292G>T (p.Glu1764Asp)
c.8253G>T (p.Glu2751Asp)
c.8145G>T (p.Glu2715Asp)
c.8127G>T (p.Glu2709Asp)
c.4899G>T (p.Glu1633Asp)
c.2829G>T (p.Glu943Asp)
c.8202G>T (p.Glu2734Asp)
c.8148G>T (p.Glu2716Asp)
c.7938G>T (p.Glu2646Asp)
c.7584G>T (p.Glu2528Asp)
c.5481G>T (p.Glu1827Asp)
n.8431G>T
c.8067G>T (p.Glu2689Asp)
c.7263G>T (p.Glu2421Asp)
c.7068G>T (p.Glu2356Asp)
n.8425G>T
n.8371G>T
n.8480G>T
5g.37153857C=CA1539651175CPLANE1n.1255G=
c.8256G= (p.Glu2752=)
c.8094G= (p.Glu2698=)
c.5268G= (p.Glu1756=)
n.498G=
c.1370G=
c.5292G= (p.Glu1764=)
c.8253G= (p.Glu2751=)
c.8145G= (p.Glu2715=)
c.8127G= (p.Glu2709=)
c.4899G= (p.Glu1633=)
c.2829G= (p.Glu943=)
c.8202G= (p.Glu2734=)
c.8148G= (p.Glu2716=)
c.7938G= (p.Glu2646=)
c.7584G= (p.Glu2528=)
c.5481G= (p.Glu1827=)
n.8431G=
c.8067G= (p.Glu2689=)
c.7263G= (p.Glu2421=)
c.7068G= (p.Glu2356=)
n.8425G=
n.8371G=
n.8480G=
5g.37153857C>GCA359473963CPLANE1n.1255G>C
c.8256G>C (p.Glu2752Asp)
c.8094G>C (p.Glu2698Asp)
c.5268G>C (p.Glu1756Asp)
n.498G>C
c.1370G>C
c.5292G>C (p.Glu1764Asp)
c.8253G>C (p.Glu2751Asp)
c.8145G>C (p.Glu2715Asp)
c.8127G>C (p.Glu2709Asp)
c.4899G>C (p.Glu1633Asp)
c.2829G>C (p.Glu943Asp)
c.8202G>C (p.Glu2734Asp)
c.8148G>C (p.Glu2716Asp)
c.7938G>C (p.Glu2646Asp)
c.7584G>C (p.Glu2528Asp)
c.5481G>C (p.Glu1827Asp)
n.8431G>C
c.8067G>C (p.Glu2689Asp)
c.7263G>C (p.Glu2421Asp)
c.7068G>C (p.Glu2356Asp)
n.8425G>C
n.8371G>C
n.8480G>C
5g.37153857C>TCA444096694CPLANE1n.1255G>A
c.8256G>A (p.Glu2752=)
c.8094G>A (p.Glu2698=)
c.5268G>A (p.Glu1756=)
n.498G>A
c.1370G>A
c.5292G>A (p.Glu1764=)
c.8253G>A (p.Glu2751=)
c.8145G>A (p.Glu2715=)
c.8127G>A (p.Glu2709=)
c.4899G>A (p.Glu1633=)
c.2829G>A (p.Glu943=)
c.8202G>A (p.Glu2734=)
c.8148G>A (p.Glu2716=)
c.7938G>A (p.Glu2646=)
c.7584G>A (p.Glu2528=)
c.5481G>A (p.Glu1827=)
n.8431G>A
c.8067G>A (p.Glu2689=)
c.7263G>A (p.Glu2421=)
c.7068G>A (p.Glu2356=)
n.8425G>A
n.8371G>A
n.8480G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.37153858T>ACA359473966CPLANE1n.1254A>T
c.8255A>T (p.Glu2752Val)
c.8093A>T (p.Glu2698Val)
c.5267A>T (p.Glu1756Val)
n.497A>T
c.1369A>T
c.5291A>T (p.Glu1764Val)
c.8252A>T (p.Glu2751Val)
c.8144A>T (p.Glu2715Val)
c.8126A>T (p.Glu2709Val)
c.4898A>T (p.Glu1633Val)
c.2828A>T (p.Glu943Val)
c.8201A>T (p.Glu2734Val)
c.8147A>T (p.Glu2716Val)
c.7937A>T (p.Glu2646Val)
c.7583A>T (p.Glu2528Val)
c.5480A>T (p.Glu1827Val)
n.8430A>T
c.8066A>T (p.Glu2689Val)
c.7262A>T (p.Glu2421Val)
c.7067A>T (p.Glu2356Val)
n.8424A>T
n.8370A>T
n.8479A>T
5g.37153858T>CCA359473969CPLANE1n.1254A>G
c.8255A>G (p.Glu2752Gly)
c.8093A>G (p.Glu2698Gly)
c.5267A>G (p.Glu1756Gly)
n.497A>G
c.1369A>G
c.5291A>G (p.Glu1764Gly)
c.8252A>G (p.Glu2751Gly)
c.8144A>G (p.Glu2715Gly)
c.8126A>G (p.Glu2709Gly)
c.4898A>G (p.Glu1633Gly)
c.2828A>G (p.Glu943Gly)
c.8201A>G (p.Glu2734Gly)
c.8147A>G (p.Glu2716Gly)
c.7937A>G (p.Glu2646Gly)
c.7583A>G (p.Glu2528Gly)
c.5480A>G (p.Glu1827Gly)
n.8430A>G
c.8066A>G (p.Glu2689Gly)
c.7262A>G (p.Glu2421Gly)
c.7067A>G (p.Glu2356Gly)
n.8424A>G
n.8370A>G
n.8479A>G
5g.37153858T>GCA359473968CPLANE1n.1254A>C
c.8255A>C (p.Glu2752Ala)
c.8093A>C (p.Glu2698Ala)
c.5267A>C (p.Glu1756Ala)
n.497A>C
c.1369A>C
c.5291A>C (p.Glu1764Ala)
c.8252A>C (p.Glu2751Ala)
c.8144A>C (p.Glu2715Ala)
c.8126A>C (p.Glu2709Ala)
c.4898A>C (p.Glu1633Ala)
c.2828A>C (p.Glu943Ala)
c.8201A>C (p.Glu2734Ala)
c.8147A>C (p.Glu2716Ala)
c.7937A>C (p.Glu2646Ala)
c.7583A>C (p.Glu2528Ala)
c.5480A>C (p.Glu1827Ala)
n.8430A>C
c.8066A>C (p.Glu2689Ala)
c.7262A>C (p.Glu2421Ala)
c.7067A>C (p.Glu2356Ala)
n.8424A>C
n.8370A>C
n.8479A>C
5g.37153858_37153860delCA2673584239CPLANE1n.1252_1254del
c.8253_8255del (p.Glu2752del)
c.8091_8093del (p.Glu2698del)
c.5265_5267del (p.Glu1756del)
n.495_497del
c.1367_1369del
c.5289_5291del (p.Glu1764del)
c.8250_8252del (p.Glu2751del)
c.8142_8144del (p.Glu2715del)
c.8124_8126del (p.Glu2709del)
c.4896_4898del (p.Glu1633del)
c.2826_2828del (p.Glu943del)
c.8199_8201del (p.Glu2734del)
c.8145_8147del (p.Glu2716del)
c.7935_7937del (p.Glu2646del)
c.7581_7583del (p.Glu2528del)
c.5478_5480del (p.Glu1827del)
n.8428_8430del
c.8064_8066del (p.Glu2689del)
c.7260_7262del (p.Glu2421del)
c.7065_7067del (p.Glu2356del)
n.8422_8424del
n.8368_8370del
n.8477_8479del
 gnomAD v4
5g.37153859C>ACA359473970CPLANE1n.1253G>T
c.8254G>T (p.Glu2752Ter)
c.8092G>T (p.Glu2698Ter)
c.5266G>T (p.Glu1756Ter)
n.496G>T
c.1368G>T
c.5290G>T (p.Glu1764Ter)
c.8251G>T (p.Glu2751Ter)
c.8143G>T (p.Glu2715Ter)
c.8125G>T (p.Glu2709Ter)
c.4897G>T (p.Glu1633Ter)
c.2827G>T (p.Glu943Ter)
c.8200G>T (p.Glu2734Ter)
c.8146G>T (p.Glu2716Ter)
c.7936G>T (p.Glu2646Ter)
c.7582G>T (p.Glu2528Ter)
c.5479G>T (p.Glu1827Ter)
n.8429G>T
c.8065G>T (p.Glu2689Ter)
c.7261G>T (p.Glu2421Ter)
c.7066G>T (p.Glu2356Ter)
n.8423G>T
n.8369G>T
n.8478G>T
5g.37153859C>GCA359473972CPLANE1n.1253G>C
c.8254G>C (p.Glu2752Gln)
c.8092G>C (p.Glu2698Gln)
c.5266G>C (p.Glu1756Gln)
n.496G>C
c.1368G>C
c.5290G>C (p.Glu1764Gln)
c.8251G>C (p.Glu2751Gln)
c.8143G>C (p.Glu2715Gln)
c.8125G>C (p.Glu2709Gln)
c.4897G>C (p.Glu1633Gln)
c.2827G>C (p.Glu943Gln)
c.8200G>C (p.Glu2734Gln)
c.8146G>C (p.Glu2716Gln)
c.7936G>C (p.Glu2646Gln)
c.7582G>C (p.Glu2528Gln)
c.5479G>C (p.Glu1827Gln)
n.8429G>C
c.8065G>C (p.Glu2689Gln)
c.7261G>C (p.Glu2421Gln)
c.7066G>C (p.Glu2356Gln)
n.8423G>C
n.8369G>C
n.8478G>C
 gnomAD v4
5g.37153859C>TCA359473974CPLANE1n.1253G>A
c.8254G>A (p.Glu2752Lys)
c.8092G>A (p.Glu2698Lys)
c.5266G>A (p.Glu1756Lys)
n.496G>A
c.1368G>A
c.5290G>A (p.Glu1764Lys)
c.8251G>A (p.Glu2751Lys)
c.8143G>A (p.Glu2715Lys)
c.8125G>A (p.Glu2709Lys)
c.4897G>A (p.Glu1633Lys)
c.2827G>A (p.Glu943Lys)
c.8200G>A (p.Glu2734Lys)
c.8146G>A (p.Glu2716Lys)
c.7936G>A (p.Glu2646Lys)
c.7582G>A (p.Glu2528Lys)
c.5479G>A (p.Glu1827Lys)
n.8429G>A
c.8065G>A (p.Glu2689Lys)
c.7261G>A (p.Glu2421Lys)
c.7066G>A (p.Glu2356Lys)
n.8423G>A
n.8369G>A
n.8478G>A
5g.37153860T>ACA444096700CPLANE1n.1252A>T
c.8253A>T (p.Leu2751=)
c.8091A>T (p.Leu2697=)
c.5265A>T (p.Leu1755=)
n.495A>T
c.1367A>T
c.5289A>T (p.Leu1763=)
c.8250A>T (p.Leu2750=)
c.8142A>T (p.Leu2714=)
c.8124A>T (p.Leu2708=)
c.4896A>T (p.Leu1632=)
c.2826A>T (p.Leu942=)
c.8199A>T (p.Leu2733=)
c.8145A>T (p.Leu2715=)
c.7935A>T (p.Leu2645=)
c.7581A>T (p.Leu2527=)
c.5478A>T (p.Leu1826=)
n.8428A>T
c.8064A>T (p.Leu2688=)
c.7260A>T (p.Leu2420=)
c.7065A>T (p.Leu2355=)
n.8422A>T
n.8368A>T
n.8477A>T
5g.37153860T>CCA444096697CPLANE1n.1252A>G
c.8253A>G (p.Leu2751=)
c.8091A>G (p.Leu2697=)
c.5265A>G (p.Leu1755=)
n.495A>G
c.1367A>G
c.5289A>G (p.Leu1763=)
c.8250A>G (p.Leu2750=)
c.8142A>G (p.Leu2714=)
c.8124A>G (p.Leu2708=)
c.4896A>G (p.Leu1632=)
c.2826A>G (p.Leu942=)
c.8199A>G (p.Leu2733=)
c.8145A>G (p.Leu2715=)
c.7935A>G (p.Leu2645=)
c.7581A>G (p.Leu2527=)
c.5478A>G (p.Leu1826=)
n.8428A>G
c.8064A>G (p.Leu2688=)
c.7260A>G (p.Leu2420=)
c.7065A>G (p.Leu2355=)
n.8422A>G
n.8368A>G
n.8477A>G
5g.37153860T>GCA444096698CPLANE1n.1252A>C
c.8253A>C (p.Leu2751=)
c.8091A>C (p.Leu2697=)
c.5265A>C (p.Leu1755=)
n.495A>C
c.1367A>C
c.5289A>C (p.Leu1763=)
c.8250A>C (p.Leu2750=)
c.8142A>C (p.Leu2714=)
c.8124A>C (p.Leu2708=)
c.4896A>C (p.Leu1632=)
c.2826A>C (p.Leu942=)
c.8199A>C (p.Leu2733=)
c.8145A>C (p.Leu2715=)
c.7935A>C (p.Leu2645=)
c.7581A>C (p.Leu2527=)
c.5478A>C (p.Leu1826=)
n.8428A>C
c.8064A>C (p.Leu2688=)
c.7260A>C (p.Leu2420=)
c.7065A>C (p.Leu2355=)
n.8422A>C
n.8368A>C
n.8477A>C
5g.37153860_37153861delinsTACA1539651176CPLANE1n.1251_1252delinsTA
c.8252_8253delinsTA (p.Leu2751=)
c.8090_8091delinsTA (p.Leu2697=)
c.5264_5265delinsTA (p.Leu1755=)
n.494_495delinsTA
c.1366_1367delinsTA
c.5288_5289delinsTA (p.Leu1763=)
c.8249_8250delinsTA (p.Leu2750=)
c.8141_8142delinsTA (p.Leu2714=)
c.8123_8124delinsTA (p.Leu2708=)
c.4895_4896delinsTA (p.Leu1632=)
c.2825_2826delinsTA (p.Leu942=)
c.8198_8199delinsTA (p.Leu2733=)
c.8144_8145delinsTA (p.Leu2715=)
c.7934_7935delinsTA (p.Leu2645=)
c.7580_7581delinsTA (p.Leu2527=)
c.5477_5478delinsTA (p.Leu1826=)
n.8427_8428delinsTA
c.8063_8064delinsTA (p.Leu2688=)
c.7259_7260delinsTA (p.Leu2420=)
c.7064_7065delinsTA (p.Leu2355=)
n.8421_8422delinsTA
n.8367_8368delinsTA
n.8476_8477delinsTA
5g.37153861delCA559295468CPLANE1n.1251del
c.8252del (p.Leu2751GlnfsTer16)
c.8090del (p.Leu2697GlnfsTer16)
c.5264del (p.Leu1755GlnfsTer16)
n.494del
n.543del
c.1366del
c.5288del (p.Leu1763GlnfsTer16)
c.8249del (p.Leu2750GlnfsTer16)
c.8141del (p.Leu2714GlnfsTer16)
c.8123del (p.Leu2708GlnfsTer16)
c.4895del (p.Leu1632GlnfsTer16)
c.2825del (p.Leu942GlnfsTer16)
c.8198del (p.Leu2733GlnfsTer16)
c.8144del (p.Leu2715GlnfsTer16)
c.7934del (p.Leu2645GlnfsTer16)
c.7580del (p.Leu2527GlnfsTer16)
c.5477del (p.Leu1826GlnfsTer16)
n.8427del
c.8063del (p.Leu2688GlnfsTer16)
c.7259del (p.Leu2420GlnfsTer16)
c.7064del (p.Leu2355GlnfsTer16)
n.8421del
n.8367del
n.8476del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37153861A>CCA359473975CPLANE1n.1251T>G
c.8252T>G (p.Leu2751Arg)
c.8090T>G (p.Leu2697Arg)
c.5264T>G (p.Leu1755Arg)
n.494T>G
n.543T>G
c.1366T>G
c.5288T>G (p.Leu1763Arg)
c.8249T>G (p.Leu2750Arg)
c.8141T>G (p.Leu2714Arg)
c.8123T>G (p.Leu2708Arg)
c.4895T>G (p.Leu1632Arg)
c.2825T>G (p.Leu942Arg)
c.8198T>G (p.Leu2733Arg)
c.8144T>G (p.Leu2715Arg)
c.7934T>G (p.Leu2645Arg)
c.7580T>G (p.Leu2527Arg)
c.5477T>G (p.Leu1826Arg)
n.8427T>G
c.8063T>G (p.Leu2688Arg)
c.7259T>G (p.Leu2420Arg)
c.7064T>G (p.Leu2355Arg)
n.8421T>G
n.8367T>G
n.8476T>G
5g.37153861A>GCA359473977CPLANE1n.1251T>C
c.8252T>C (p.Leu2751Pro)
c.8090T>C (p.Leu2697Pro)
c.5264T>C (p.Leu1755Pro)
n.494T>C
n.543T>C
c.1366T>C
c.5288T>C (p.Leu1763Pro)
c.8249T>C (p.Leu2750Pro)
c.8141T>C (p.Leu2714Pro)
c.8123T>C (p.Leu2708Pro)
c.4895T>C (p.Leu1632Pro)
c.2825T>C (p.Leu942Pro)
c.8198T>C (p.Leu2733Pro)
c.8144T>C (p.Leu2715Pro)
c.7934T>C (p.Leu2645Pro)
c.7580T>C (p.Leu2527Pro)
c.5477T>C (p.Leu1826Pro)
n.8427T>C
c.8063T>C (p.Leu2688Pro)
c.7259T>C (p.Leu2420Pro)
c.7064T>C (p.Leu2355Pro)
n.8421T>C
n.8367T>C
n.8476T>C
5g.37153861A>TCA359473978CPLANE1n.1251T>A
c.8252T>A (p.Leu2751Gln)
c.8090T>A (p.Leu2697Gln)
c.5264T>A (p.Leu1755Gln)
n.494T>A
n.543T>A
c.1366T>A
c.5288T>A (p.Leu1763Gln)
c.8249T>A (p.Leu2750Gln)
c.8141T>A (p.Leu2714Gln)
c.8123T>A (p.Leu2708Gln)
c.4895T>A (p.Leu1632Gln)
c.2825T>A (p.Leu942Gln)
c.8198T>A (p.Leu2733Gln)
c.8144T>A (p.Leu2715Gln)
c.7934T>A (p.Leu2645Gln)
c.7580T>A (p.Leu2527Gln)
c.5477T>A (p.Leu1826Gln)
n.8427T>A
c.8063T>A (p.Leu2688Gln)
c.7259T>A (p.Leu2420Gln)
c.7064T>A (p.Leu2355Gln)
n.8421T>A
n.8367T>A
n.8476T>A
5g.37153862G>ACA444096701CPLANE1n.1250C>T
c.8251C>T (p.Leu2751=)
c.8089C>T (p.Leu2697=)
c.5263C>T (p.Leu1755=)
n.493C>T
n.542C>T
c.1365C>T
c.5287C>T (p.Leu1763=)
c.8248C>T (p.Leu2750=)
c.8140C>T (p.Leu2714=)
c.8122C>T (p.Leu2708=)
c.4894C>T (p.Leu1632=)
c.2824C>T (p.Leu942=)
c.8197C>T (p.Leu2733=)
c.8143C>T (p.Leu2715=)
c.7933C>T (p.Leu2645=)
c.7579C>T (p.Leu2527=)
c.5476C>T (p.Leu1826=)
n.8426C>T
c.8062C>T (p.Leu2688=)
c.7258C>T (p.Leu2420=)
c.7063C>T (p.Leu2355=)
n.8420C>T
n.8366C>T
n.8475C>T
5g.37153862G>CCA359473980CPLANE1n.1250C>G
c.8251C>G (p.Leu2751Val)
c.8089C>G (p.Leu2697Val)
c.5263C>G (p.Leu1755Val)
n.493C>G
n.542C>G
c.1365C>G
c.5287C>G (p.Leu1763Val)
c.8248C>G (p.Leu2750Val)
c.8140C>G (p.Leu2714Val)
c.8122C>G (p.Leu2708Val)
c.4894C>G (p.Leu1632Val)
c.2824C>G (p.Leu942Val)
c.8197C>G (p.Leu2733Val)
c.8143C>G (p.Leu2715Val)
c.7933C>G (p.Leu2645Val)
c.7579C>G (p.Leu2527Val)
c.5476C>G (p.Leu1826Val)
n.8426C>G
c.8062C>G (p.Leu2688Val)
c.7258C>G (p.Leu2420Val)
c.7063C>G (p.Leu2355Val)
n.8420C>G
n.8366C>G
n.8475C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.37153862G=CA1539651179CPLANE1n.1250C=
c.8251C= (p.Leu2751=)
c.8089C= (p.Leu2697=)
c.5263C= (p.Leu1755=)
n.493C=
n.542C=
c.1365C=
c.5287C= (p.Leu1763=)
c.8248C= (p.Leu2750=)
c.8140C= (p.Leu2714=)
c.8122C= (p.Leu2708=)
c.4894C= (p.Leu1632=)
c.2824C= (p.Leu942=)
c.8197C= (p.Leu2733=)
c.8143C= (p.Leu2715=)
c.7933C= (p.Leu2645=)
c.7579C= (p.Leu2527=)
c.5476C= (p.Leu1826=)
n.8426C=
c.8062C= (p.Leu2688=)
c.7258C= (p.Leu2420=)
c.7063C= (p.Leu2355=)
n.8420C=
n.8366C=
n.8475C=
5g.37153862G>TCA359473981CPLANE1n.1250C>A
c.8251C>A (p.Leu2751Ile)
c.8089C>A (p.Leu2697Ile)
c.5263C>A (p.Leu1755Ile)
n.493C>A
n.542C>A
c.1365C>A
c.5287C>A (p.Leu1763Ile)
c.8248C>A (p.Leu2750Ile)
c.8140C>A (p.Leu2714Ile)
c.8122C>A (p.Leu2708Ile)
c.4894C>A (p.Leu1632Ile)
c.2824C>A (p.Leu942Ile)
c.8197C>A (p.Leu2733Ile)
c.8143C>A (p.Leu2715Ile)
c.7933C>A (p.Leu2645Ile)
c.7579C>A (p.Leu2527Ile)
c.5476C>A (p.Leu1826Ile)
n.8426C>A
c.8062C>A (p.Leu2688Ile)
c.7258C>A (p.Leu2420Ile)
c.7063C>A (p.Leu2355Ile)
n.8420C>A
n.8366C>A
n.8475C>A
5g.37153863T>ACA359473983CPLANE1n.1249A>T
c.8250A>T (p.Gln2750His)
c.8088A>T (p.Gln2696His)
c.5262A>T (p.Gln1754His)
n.492A>T
n.541A>T
c.1364A>T
c.5286A>T (p.Gln1762His)
c.8247A>T (p.Gln2749His)
c.8139A>T (p.Gln2713His)
c.8121A>T (p.Gln2707His)
c.4893A>T (p.Gln1631His)
c.2823A>T (p.Gln941His)
c.8196A>T (p.Gln2732His)
c.8142A>T (p.Gln2714His)
c.7932A>T (p.Gln2644His)
c.7578A>T (p.Gln2526His)
c.5475A>T (p.Gln1825His)
n.8425A>T
c.8061A>T (p.Gln2687His)
c.7257A>T (p.Gln2419His)
c.7062A>T (p.Gln2354His)
n.8419A>T
n.8365A>T
n.8474A>T
 dbSNP gnomAD v2 gnomAD v4
5g.37153863T>CCA3237838CPLANE1n.1249A>G
c.8250A>G (p.Gln2750=)
c.8088A>G (p.Gln2696=)
c.5262A>G (p.Gln1754=)
n.492A>G
n.541A>G
c.1364A>G
c.5286A>G (p.Gln1762=)
c.8247A>G (p.Gln2749=)
c.8139A>G (p.Gln2713=)
c.8121A>G (p.Gln2707=)
c.4893A>G (p.Gln1631=)
c.2823A>G (p.Gln941=)
c.8196A>G (p.Gln2732=)
c.8142A>G (p.Gln2714=)
c.7932A>G (p.Gln2644=)
c.7578A>G (p.Gln2526=)
c.5475A>G (p.Gln1825=)
n.8425A>G
c.8061A>G (p.Gln2687=)
c.7257A>G (p.Gln2419=)
c.7062A>G (p.Gln2354=)
n.8419A>G
n.8365A>G
n.8474A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37153863T>GCA359473985CPLANE1n.1249A>C
c.8250A>C (p.Gln2750His)
c.8088A>C (p.Gln2696His)
c.5262A>C (p.Gln1754His)
n.492A>C
n.541A>C
c.1364A>C
c.5286A>C (p.Gln1762His)
c.8247A>C (p.Gln2749His)
c.8139A>C (p.Gln2713His)
c.8121A>C (p.Gln2707His)
c.4893A>C (p.Gln1631His)
c.2823A>C (p.Gln941His)
c.8196A>C (p.Gln2732His)
c.8142A>C (p.Gln2714His)
c.7932A>C (p.Gln2644His)
c.7578A>C (p.Gln2526His)
c.5475A>C (p.Gln1825His)
n.8425A>C
c.8061A>C (p.Gln2687His)
c.7257A>C (p.Gln2419His)
c.7062A>C (p.Gln2354His)
n.8419A>C
n.8365A>C
n.8474A>C
 dbSNP gnomAD v2 gnomAD v4
5g.37153863T=CA1539651186CPLANE1n.1249A=
c.8250A= (p.Gln2750=)
c.8088A= (p.Gln2696=)
c.5262A= (p.Gln1754=)
n.492A=
n.541A=
c.1364A=
c.5286A= (p.Gln1762=)
c.8247A= (p.Gln2749=)
c.8139A= (p.Gln2713=)
c.8121A= (p.Gln2707=)
c.4893A= (p.Gln1631=)
c.2823A= (p.Gln941=)
c.8196A= (p.Gln2732=)
c.8142A= (p.Gln2714=)
c.7932A= (p.Gln2644=)
c.7578A= (p.Gln2526=)
c.5475A= (p.Gln1825=)
n.8425A=
c.8061A= (p.Gln2687=)
c.7257A= (p.Gln2419=)
c.7062A= (p.Gln2354=)
n.8419A=
n.8365A=
n.8474A=
5g.37153864T>ACA359473990CPLANE1n.1248A>T
c.8249A>T (p.Gln2750Leu)
c.8087A>T (p.Gln2696Leu)
c.5261A>T (p.Gln1754Leu)
n.491A>T
n.540A>T
c.1363A>T
c.5285A>T (p.Gln1762Leu)
c.8246A>T (p.Gln2749Leu)
c.8138A>T (p.Gln2713Leu)
c.8120A>T (p.Gln2707Leu)
c.4892A>T (p.Gln1631Leu)
c.2822A>T (p.Gln941Leu)
c.8195A>T (p.Gln2732Leu)
c.8141A>T (p.Gln2714Leu)
c.7931A>T (p.Gln2644Leu)
c.7577A>T (p.Gln2526Leu)
c.5474A>T (p.Gln1825Leu)
n.8424A>T
c.8060A>T (p.Gln2687Leu)
c.7256A>T (p.Gln2419Leu)
c.7061A>T (p.Gln2354Leu)
n.8418A>T
n.8364A>T
n.8473A>T
5g.37153864T>CCA359473989CPLANE1n.1248A>G
c.8249A>G (p.Gln2750Arg)
c.8087A>G (p.Gln2696Arg)
c.5261A>G (p.Gln1754Arg)
n.491A>G
n.540A>G
c.1363A>G
c.5285A>G (p.Gln1762Arg)
c.8246A>G (p.Gln2749Arg)
c.8138A>G (p.Gln2713Arg)
c.8120A>G (p.Gln2707Arg)
c.4892A>G (p.Gln1631Arg)
c.2822A>G (p.Gln941Arg)
c.8195A>G (p.Gln2732Arg)
c.8141A>G (p.Gln2714Arg)
c.7931A>G (p.Gln2644Arg)
c.7577A>G (p.Gln2526Arg)
c.5474A>G (p.Gln1825Arg)
n.8424A>G
c.8060A>G (p.Gln2687Arg)
c.7256A>G (p.Gln2419Arg)
c.7061A>G (p.Gln2354Arg)
n.8418A>G
n.8364A>G
n.8473A>G
5g.37153864T>GCA359473987CPLANE1n.1248A>C
c.8249A>C (p.Gln2750Pro)
c.8087A>C (p.Gln2696Pro)
c.5261A>C (p.Gln1754Pro)
n.491A>C
n.540A>C
c.1363A>C
c.5285A>C (p.Gln1762Pro)
c.8246A>C (p.Gln2749Pro)
c.8138A>C (p.Gln2713Pro)
c.8120A>C (p.Gln2707Pro)
c.4892A>C (p.Gln1631Pro)
c.2822A>C (p.Gln941Pro)
c.8195A>C (p.Gln2732Pro)
c.8141A>C (p.Gln2714Pro)
c.7931A>C (p.Gln2644Pro)
c.7577A>C (p.Gln2526Pro)
c.5474A>C (p.Gln1825Pro)
n.8424A>C
c.8060A>C (p.Gln2687Pro)
c.7256A>C (p.Gln2419Pro)
c.7061A>C (p.Gln2354Pro)
n.8418A>C
n.8364A>C
n.8473A>C
5g.37153865G>ACA359473992CPLANE1n.1247C>T
c.8248C>T (p.Gln2750Ter)
c.8086C>T (p.Gln2696Ter)
c.5260C>T (p.Gln1754Ter)
n.490C>T
n.539C>T
c.1362C>T
c.5284C>T (p.Gln1762Ter)
c.8245C>T (p.Gln2749Ter)
c.8137C>T (p.Gln2713Ter)
c.8119C>T (p.Gln2707Ter)
c.4891C>T (p.Gln1631Ter)
c.2821C>T (p.Gln941Ter)
c.8194C>T (p.Gln2732Ter)
c.8140C>T (p.Gln2714Ter)
c.7930C>T (p.Gln2644Ter)
c.7576C>T (p.Gln2526Ter)
c.5473C>T (p.Gln1825Ter)
n.8423C>T
c.8059C>T (p.Gln2687Ter)
c.7255C>T (p.Gln2419Ter)
c.7060C>T (p.Gln2354Ter)
n.8417C>T
n.8363C>T
n.8472C>T
 dbSNP gnomAD v2 gnomAD v4
5g.37153865G>CCA3237839CPLANE1n.1247C>G
c.8248C>G (p.Gln2750Glu)
c.8086C>G (p.Gln2696Glu)
c.5260C>G (p.Gln1754Glu)
n.490C>G
n.539C>G
c.1362C>G
c.5284C>G (p.Gln1762Glu)
c.8245C>G (p.Gln2749Glu)
c.8137C>G (p.Gln2713Glu)
c.8119C>G (p.Gln2707Glu)
c.4891C>G (p.Gln1631Glu)
c.2821C>G (p.Gln941Glu)
c.8194C>G (p.Gln2732Glu)
c.8140C>G (p.Gln2714Glu)
c.7930C>G (p.Gln2644Glu)
c.7576C>G (p.Gln2526Glu)
c.5473C>G (p.Gln1825Glu)
n.8423C>G
c.8059C>G (p.Gln2687Glu)
c.7255C>G (p.Gln2419Glu)
c.7060C>G (p.Gln2354Glu)
n.8417C>G
n.8363C>G
n.8472C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37153865G=CA1539651195CPLANE1n.1247C=
c.8248C= (p.Gln2750=)
c.8086C= (p.Gln2696=)
c.5260C= (p.Gln1754=)
n.490C=
n.539C=
c.1362C=
c.5284C= (p.Gln1762=)
c.8245C= (p.Gln2749=)
c.8137C= (p.Gln2713=)
c.8119C= (p.Gln2707=)
c.4891C= (p.Gln1631=)
c.2821C= (p.Gln941=)
c.8194C= (p.Gln2732=)
c.8140C= (p.Gln2714=)
c.7930C= (p.Gln2644=)
c.7576C= (p.Gln2526=)
c.5473C= (p.Gln1825=)
n.8423C=
c.8059C= (p.Gln2687=)
c.7255C= (p.Gln2419=)
c.7060C= (p.Gln2354=)
n.8417C=
n.8363C=
n.8472C=
5g.37153865G>TCA359473994CPLANE1n.1247C>A
c.8248C>A (p.Gln2750Lys)
c.8086C>A (p.Gln2696Lys)
c.5260C>A (p.Gln1754Lys)
n.490C>A
n.539C>A
c.1362C>A
c.5284C>A (p.Gln1762Lys)
c.8245C>A (p.Gln2749Lys)
c.8137C>A (p.Gln2713Lys)
c.8119C>A (p.Gln2707Lys)
c.4891C>A (p.Gln1631Lys)
c.2821C>A (p.Gln941Lys)
c.8194C>A (p.Gln2732Lys)
c.8140C>A (p.Gln2714Lys)
c.7930C>A (p.Gln2644Lys)
c.7576C>A (p.Gln2526Lys)
c.5473C>A (p.Gln1825Lys)
n.8423C>A
c.8059C>A (p.Gln2687Lys)
c.7255C>A (p.Gln2419Lys)
c.7060C>A (p.Gln2354Lys)
n.8417C>A
n.8363C>A
n.8472C>A
5g.37153866G>ACA444096703CPLANE1n.1246C>T
c.8247C>T (p.His2749=)
c.8085C>T (p.His2695=)
c.5259C>T (p.His1753=)
n.489C>T
n.538C>T
c.1361C>T
c.5283C>T (p.His1761=)
c.8244C>T (p.His2748=)
c.8136C>T (p.His2712=)
c.8118C>T (p.His2706=)
c.4890C>T (p.His1630=)
c.2820C>T (p.His940=)
c.8193C>T (p.His2731=)
c.8139C>T (p.His2713=)
c.7929C>T (p.His2643=)
c.7575C>T (p.His2525=)
c.5472C>T (p.His1824=)
n.8422C>T
c.8058C>T (p.His2686=)
c.7254C>T (p.His2418=)
c.7059C>T (p.His2353=)
n.8416C>T
n.8362C>T
n.8471C>T
 dbSNP gnomAD v2 gnomAD v4
5g.37153866G>CCA359473995CPLANE1n.1246C>G
c.8247C>G (p.His2749Gln)
c.8085C>G (p.His2695Gln)
c.5259C>G (p.His1753Gln)
n.489C>G
n.538C>G
c.1361C>G
c.5283C>G (p.His1761Gln)
c.8244C>G (p.His2748Gln)
c.8136C>G (p.His2712Gln)
c.8118C>G (p.His2706Gln)
c.4890C>G (p.His1630Gln)
c.2820C>G (p.His940Gln)
c.8193C>G (p.His2731Gln)
c.8139C>G (p.His2713Gln)
c.7929C>G (p.His2643Gln)
c.7575C>G (p.His2525Gln)
c.5472C>G (p.His1824Gln)
n.8422C>G
c.8058C>G (p.His2686Gln)
c.7254C>G (p.His2418Gln)
c.7059C>G (p.His2353Gln)
n.8416C>G
n.8362C>G
n.8471C>G
5g.37153866G=CA1539651200CPLANE1n.1246C=
c.8247C= (p.His2749=)
c.8085C= (p.His2695=)
c.5259C= (p.His1753=)
n.489C=
n.538C=
c.1361C=
c.5283C= (p.His1761=)
c.8244C= (p.His2748=)
c.8136C= (p.His2712=)
c.8118C= (p.His2706=)
c.4890C= (p.His1630=)
c.2820C= (p.His940=)
c.8193C= (p.His2731=)
c.8139C= (p.His2713=)
c.7929C= (p.His2643=)
c.7575C= (p.His2525=)
c.5472C= (p.His1824=)
n.8422C=
c.8058C= (p.His2686=)
c.7254C= (p.His2418=)
c.7059C= (p.His2353=)
n.8416C=
n.8362C=
n.8471C=
5g.37153866G>TCA359473997CPLANE1n.1246C>A
c.8247C>A (p.His2749Gln)
c.8085C>A (p.His2695Gln)
c.5259C>A (p.His1753Gln)
n.489C>A
n.538C>A
c.1361C>A
c.5283C>A (p.His1761Gln)
c.8244C>A (p.His2748Gln)
c.8136C>A (p.His2712Gln)
c.8118C>A (p.His2706Gln)
c.4890C>A (p.His1630Gln)
c.2820C>A (p.His940Gln)
c.8193C>A (p.His2731Gln)
c.8139C>A (p.His2713Gln)
c.7929C>A (p.His2643Gln)
c.7575C>A (p.His2525Gln)
c.5472C>A (p.His1824Gln)
n.8422C>A
c.8058C>A (p.His2686Gln)
c.7254C>A (p.His2418Gln)
c.7059C>A (p.His2353Gln)
n.8416C>A
n.8362C>A
n.8471C>A
5g.37153867T>ACA359473999CPLANE1n.1245A>T
c.8246A>T (p.His2749Leu)
c.8084A>T (p.His2695Leu)
c.5258A>T (p.His1753Leu)
n.488A>T
n.537A>T
c.1360A>T
c.5282A>T (p.His1761Leu)
c.8243A>T (p.His2748Leu)
c.8135A>T (p.His2712Leu)
c.8117A>T (p.His2706Leu)
c.4889A>T (p.His1630Leu)
c.2819A>T (p.His940Leu)
c.8192A>T (p.His2731Leu)
c.8138A>T (p.His2713Leu)
c.7928A>T (p.His2643Leu)
c.7574A>T (p.His2525Leu)
c.5471A>T (p.His1824Leu)
n.8421A>T
c.8057A>T (p.His2686Leu)
c.7253A>T (p.His2418Leu)
c.7058A>T (p.His2353Leu)
n.8415A>T
n.8361A>T
n.8470A>T
5g.37153867T>CCA359474000CPLANE1n.1245A>G
c.8246A>G (p.His2749Arg)
c.8084A>G (p.His2695Arg)
c.5258A>G (p.His1753Arg)
n.488A>G
n.537A>G
c.1360A>G
c.5282A>G (p.His1761Arg)
c.8243A>G (p.His2748Arg)
c.8135A>G (p.His2712Arg)
c.8117A>G (p.His2706Arg)
c.4889A>G (p.His1630Arg)
c.2819A>G (p.His940Arg)
c.8192A>G (p.His2731Arg)
c.8138A>G (p.His2713Arg)
c.7928A>G (p.His2643Arg)
c.7574A>G (p.His2525Arg)
c.5471A>G (p.His1824Arg)
n.8421A>G
c.8057A>G (p.His2686Arg)
c.7253A>G (p.His2418Arg)
c.7058A>G (p.His2353Arg)
n.8415A>G
n.8361A>G
n.8470A>G
 dbSNP gnomAD v4
5g.37153867T>GCA359474001CPLANE1n.1245A>C
c.8246A>C (p.His2749Pro)
c.8084A>C (p.His2695Pro)
c.5258A>C (p.His1753Pro)
n.488A>C
n.537A>C
c.1360A>C
c.5282A>C (p.His1761Pro)
c.8243A>C (p.His2748Pro)
c.8135A>C (p.His2712Pro)
c.8117A>C (p.His2706Pro)
c.4889A>C (p.His1630Pro)
c.2819A>C (p.His940Pro)
c.8192A>C (p.His2731Pro)
c.8138A>C (p.His2713Pro)
c.7928A>C (p.His2643Pro)
c.7574A>C (p.His2525Pro)
c.5471A>C (p.His1824Pro)
n.8421A>C
c.8057A>C (p.His2686Pro)
c.7253A>C (p.His2418Pro)
c.7058A>C (p.His2353Pro)
n.8415A>C
n.8361A>C
n.8470A>C
 gnomAD v4
5g.37153867T=CA1539651207CPLANE1n.1245A=
c.8246A= (p.His2749=)
c.8084A= (p.His2695=)
c.5258A= (p.His1753=)
n.488A=
n.537A=
c.1360A=
c.5282A= (p.His1761=)
c.8243A= (p.His2748=)
c.8135A= (p.His2712=)
c.8117A= (p.His2706=)
c.4889A= (p.His1630=)
c.2819A= (p.His940=)
c.8192A= (p.His2731=)
c.8138A= (p.His2713=)
c.7928A= (p.His2643=)
c.7574A= (p.His2525=)
c.5471A= (p.His1824=)
n.8421A=
c.8057A= (p.His2686=)
c.7253A= (p.His2418=)
c.7058A= (p.His2353=)
n.8415A=
n.8361A=
n.8470A=
5g.37153868G>ACA359474002CPLANE1n.1244C>T
c.8245C>T (p.His2749Tyr)
c.8083C>T (p.His2695Tyr)
c.5257C>T (p.His1753Tyr)
n.487C>T
n.536C>T
c.1359C>T
c.5281C>T (p.His1761Tyr)
c.8242C>T (p.His2748Tyr)
c.8134C>T (p.His2712Tyr)
c.8116C>T (p.His2706Tyr)
c.4888C>T (p.His1630Tyr)
c.2818C>T (p.His940Tyr)
c.8191C>T (p.His2731Tyr)
c.8137C>T (p.His2713Tyr)
c.7927C>T (p.His2643Tyr)
c.7573C>T (p.His2525Tyr)
c.5470C>T (p.His1824Tyr)
n.8420C>T
c.8056C>T (p.His2686Tyr)
c.7252C>T (p.His2418Tyr)
c.7057C>T (p.His2353Tyr)
n.8414C>T
n.8360C>T
n.8469C>T
 gnomAD v4 COSMIC COSMIC
5g.37153868G>CCA359474004CPLANE1n.1244C>G
c.8245C>G (p.His2749Asp)
c.8083C>G (p.His2695Asp)
c.5257C>G (p.His1753Asp)
n.487C>G
n.536C>G
c.1359C>G
c.5281C>G (p.His1761Asp)
c.8242C>G (p.His2748Asp)
c.8134C>G (p.His2712Asp)
c.8116C>G (p.His2706Asp)
c.4888C>G (p.His1630Asp)
c.2818C>G (p.His940Asp)
c.8191C>G (p.His2731Asp)
c.8137C>G (p.His2713Asp)
c.7927C>G (p.His2643Asp)
c.7573C>G (p.His2525Asp)
c.5470C>G (p.His1824Asp)
n.8420C>G
c.8056C>G (p.His2686Asp)
c.7252C>G (p.His2418Asp)
c.7057C>G (p.His2353Asp)
n.8414C>G
n.8360C>G
n.8469C>G
5g.37153868G>TCA359474006CPLANE1n.1244C>A
c.8245C>A (p.His2749Asn)
c.8083C>A (p.His2695Asn)
c.5257C>A (p.His1753Asn)
n.487C>A
n.536C>A
c.1359C>A
c.5281C>A (p.His1761Asn)
c.8242C>A (p.His2748Asn)
c.8134C>A (p.His2712Asn)
c.8116C>A (p.His2706Asn)
c.4888C>A (p.His1630Asn)
c.2818C>A (p.His940Asn)
c.8191C>A (p.His2731Asn)
c.8137C>A (p.His2713Asn)
c.7927C>A (p.His2643Asn)
c.7573C>A (p.His2525Asn)
c.5470C>A (p.His1824Asn)
n.8420C>A
c.8056C>A (p.His2686Asn)
c.7252C>A (p.His2418Asn)
c.7057C>A (p.His2353Asn)
n.8414C>A
n.8360C>A
n.8469C>A
5g.37153868_37153892delinsGAGCTGCAGAGCTTGGTGCAGGGCACA1539651214CPLANE1n.1220_1244delinsTGCCCTGCACCAAGCTCTGCAGCTC
c.8221_8245delinsTGCCCTGCACCAAGCTCTGCAGCTC (p.Cys2741=)
c.8059_8083delinsTGCCCTGCACCAAGCTCTGCAGCTC (p.Cys2687=)
c.5233_5257delinsTGCCCTGCACCAAGCTCTGCAGCTC (p.Cys1745=)
n.463_487delinsTGCCCTGCACCAAGCTCTGCAGCTC
n.512_536delinsTGCCCTGCACCAAGCTCTGCAGCTC
c.1335_1359delinsTGCCCTGCACCAAGCTCTGCAGCTC
c.5257_5281delinsTGCCCTGCACCAAGCTCTGCAGCTC (p.Cys1753=)
c.8218_8242delinsTGCCCTGCACCAAGCTCTGCAGCTC (p.Cys2740=)
c.8110_8134delinsTGCCCTGCACCAAGCTCTGCAGCTC (p.Cys2704=)
c.8092_8116delinsTGCCCTGCACCAAGCTCTGCAGCTC (p.Cys2698=)
c.4864_4888delinsTGCCCTGCACCAAGCTCTGCAGCTC (p.Cys1622=)
c.2794_2818delinsTGCCCTGCACCAAGCTCTGCAGCTC (p.Cys932=)
c.8167_8191delinsTGCCCTGCACCAAGCTCTGCAGCTC (p.Cys2723=)
c.8113_8137delinsTGCCCTGCACCAAGCTCTGCAGCTC (p.Cys2705=)
c.7903_7927delinsTGCCCTGCACCAAGCTCTGCAGCTC (p.Cys2635=)
c.7549_7573delinsTGCCCTGCACCAAGCTCTGCAGCTC (p.Cys2517=)
c.5446_5470delinsTGCCCTGCACCAAGCTCTGCAGCTC (p.Cys1816=)
n.8396_8420delinsTGCCCTGCACCAAGCTCTGCAGCTC
c.8032_8056delinsTGCCCTGCACCAAGCTCTGCAGCTC (p.Cys2678=)
c.7228_7252delinsTGCCCTGCACCAAGCTCTGCAGCTC (p.Cys2410=)
c.7033_7057delinsTGCCCTGCACCAAGCTCTGCAGCTC (p.Cys2345=)
n.8390_8414delinsTGCCCTGCACCAAGCTCTGCAGCTC
n.8336_8360delinsTGCCCTGCACCAAGCTCTGCAGCTC
n.8445_8469delinsTGCCCTGCACCAAGCTCTGCAGCTC
5g.37153869A>CCA444096705CPLANE1n.1243T>G
c.8244T>G (p.Ala2748=)
c.8082T>G (p.Ala2694=)
c.5256T>G (p.Ala1752=)
n.486T>G
n.535T>G
c.1358T>G
c.5280T>G (p.Ala1760=)
c.8241T>G (p.Ala2747=)
c.8133T>G (p.Ala2711=)
c.8115T>G (p.Ala2705=)
c.4887T>G (p.Ala1629=)
c.2817T>G (p.Ala939=)
c.8190T>G (p.Ala2730=)
c.8136T>G (p.Ala2712=)
c.7926T>G (p.Ala2642=)
c.7572T>G (p.Ala2524=)
c.5469T>G (p.Ala1823=)
n.8419T>G
c.8055T>G (p.Ala2685=)
c.7251T>G (p.Ala2417=)
c.7056T>G (p.Ala2352=)
n.8413T>G
n.8359T>G
n.8468T>G
5g.37153869A>GCA444096707CPLANE1n.1243T>C
c.8244T>C (p.Ala2748=)
c.8082T>C (p.Ala2694=)
c.5256T>C (p.Ala1752=)
n.486T>C
n.535T>C
c.1358T>C
c.5280T>C (p.Ala1760=)
c.8241T>C (p.Ala2747=)
c.8133T>C (p.Ala2711=)
c.8115T>C (p.Ala2705=)
c.4887T>C (p.Ala1629=)
c.2817T>C (p.Ala939=)
c.8190T>C (p.Ala2730=)
c.8136T>C (p.Ala2712=)
c.7926T>C (p.Ala2642=)
c.7572T>C (p.Ala2524=)
c.5469T>C (p.Ala1823=)
n.8419T>C
c.8055T>C (p.Ala2685=)
c.7251T>C (p.Ala2417=)
c.7056T>C (p.Ala2352=)
n.8413T>C
n.8359T>C
n.8468T>C
5g.37153869A>TCA444096706CPLANE1n.1243T>A
c.8244T>A (p.Ala2748=)
c.8082T>A (p.Ala2694=)
c.5256T>A (p.Ala1752=)
n.486T>A
n.535T>A
c.1358T>A
c.5280T>A (p.Ala1760=)
c.8241T>A (p.Ala2747=)
c.8133T>A (p.Ala2711=)
c.8115T>A (p.Ala2705=)
c.4887T>A (p.Ala1629=)
c.2817T>A (p.Ala939=)
c.8190T>A (p.Ala2730=)
c.8136T>A (p.Ala2712=)
c.7926T>A (p.Ala2642=)
c.7572T>A (p.Ala2524=)
c.5469T>A (p.Ala1823=)
n.8419T>A
c.8055T>A (p.Ala2685=)
c.7251T>A (p.Ala2417=)
c.7056T>A (p.Ala2352=)
n.8413T>A
n.8359T>A
n.8468T>A
5g.37153879_37153902delCA3237840CPLANE1n.1220_1243del
c.8221_8244del (p.Cys2741_Ala2748del)
c.8059_8082del (p.Cys2687_Ala2694del)
c.5233_5256del (p.Cys1745_Ala1752del)
n.463_486del
n.512_535del
c.1335_1358del
c.5257_5280del (p.Cys1753_Ala1760del)
c.8218_8241del (p.Cys2740_Ala2747del)
c.8110_8133del (p.Cys2704_Ala2711del)
c.8092_8115del (p.Cys2698_Ala2705del)
c.4864_4887del (p.Cys1622_Ala1629del)
c.2794_2817del (p.Cys932_Ala939del)
c.8167_8190del (p.Cys2723_Ala2730del)
c.8113_8136del (p.Cys2705_Ala2712del)
c.7903_7926del (p.Cys2635_Ala2642del)
c.7549_7572del (p.Cys2517_Ala2524del)
c.5446_5469del (p.Cys1816_Ala1823del)
n.8396_8419del
c.8032_8055del (p.Cys2678_Ala2685del)
c.7228_7251del (p.Cys2410_Ala2417del)
c.7033_7056del (p.Cys2345_Ala2352del)
n.8390_8413del
n.8336_8359del
n.8445_8468del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37153870G>ACA359474008CPLANE1n.1242C>T
c.8243C>T (p.Ala2748Val)
c.8081C>T (p.Ala2694Val)
c.5255C>T (p.Ala1752Val)
n.485C>T
n.534C>T
c.1357C>T
c.5279C>T (p.Ala1760Val)
c.8240C>T (p.Ala2747Val)
c.8132C>T (p.Ala2711Val)
c.8114C>T (p.Ala2705Val)
c.4886C>T (p.Ala1629Val)
c.2816C>T (p.Ala939Val)
c.8189C>T (p.Ala2730Val)
c.8135C>T (p.Ala2712Val)
c.7925C>T (p.Ala2642Val)
c.7571C>T (p.Ala2524Val)
c.5468C>T (p.Ala1823Val)
n.8418C>T
c.8054C>T (p.Ala2685Val)
c.7250C>T (p.Ala2417Val)
c.7055C>T (p.Ala2352Val)
n.8412C>T
n.8358C>T
n.8467C>T
5g.37153870G>CCA359474011CPLANE1n.1242C>G
c.8243C>G (p.Ala2748Gly)
c.8081C>G (p.Ala2694Gly)
c.5255C>G (p.Ala1752Gly)
n.485C>G
n.534C>G
c.1357C>G
c.5279C>G (p.Ala1760Gly)
c.8240C>G (p.Ala2747Gly)
c.8132C>G (p.Ala2711Gly)
c.8114C>G (p.Ala2705Gly)
c.4886C>G (p.Ala1629Gly)
c.2816C>G (p.Ala939Gly)
c.8189C>G (p.Ala2730Gly)
c.8135C>G (p.Ala2712Gly)
c.7925C>G (p.Ala2642Gly)
c.7571C>G (p.Ala2524Gly)
c.5468C>G (p.Ala1823Gly)
n.8418C>G
c.8054C>G (p.Ala2685Gly)
c.7250C>G (p.Ala2417Gly)
c.7055C>G (p.Ala2352Gly)
n.8412C>G
n.8358C>G
n.8467C>G
 ClinVar dbSNP
5g.37153870G>TCA359474009CPLANE1n.1242C>A
c.8243C>A (p.Ala2748Asp)
c.8081C>A (p.Ala2694Asp)
c.5255C>A (p.Ala1752Asp)
n.485C>A
n.534C>A
c.1357C>A
c.5279C>A (p.Ala1760Asp)
c.8240C>A (p.Ala2747Asp)
c.8132C>A (p.Ala2711Asp)
c.8114C>A (p.Ala2705Asp)
c.4886C>A (p.Ala1629Asp)
c.2816C>A (p.Ala939Asp)
c.8189C>A (p.Ala2730Asp)
c.8135C>A (p.Ala2712Asp)
c.7925C>A (p.Ala2642Asp)
c.7571C>A (p.Ala2524Asp)
c.5468C>A (p.Ala1823Asp)
n.8418C>A
c.8054C>A (p.Ala2685Asp)
c.7250C>A (p.Ala2417Asp)
c.7055C>A (p.Ala2352Asp)
n.8412C>A
n.8358C>A
n.8467C>A
5g.37153871C>ACA359474013CPLANE1n.1241G>T
c.8242G>T (p.Ala2748Ser)
c.8080G>T (p.Ala2694Ser)
c.5254G>T (p.Ala1752Ser)
n.484G>T
n.533G>T
c.1356G>T
c.5278G>T (p.Ala1760Ser)
c.8239G>T (p.Ala2747Ser)
c.8131G>T (p.Ala2711Ser)
c.8113G>T (p.Ala2705Ser)
c.4885G>T (p.Ala1629Ser)
c.2815G>T (p.Ala939Ser)
c.8188G>T (p.Ala2730Ser)
c.8134G>T (p.Ala2712Ser)
c.7924G>T (p.Ala2642Ser)
c.7570G>T (p.Ala2524Ser)
c.5467G>T (p.Ala1823Ser)
n.8417G>T
c.8053G>T (p.Ala2685Ser)
c.7249G>T (p.Ala2417Ser)
c.7054G>T (p.Ala2352Ser)
n.8411G>T
n.8357G>T
n.8466G>T
5g.37153871C=CA1539651229CPLANE1n.1241G=
c.8242G= (p.Ala2748=)
c.8080G= (p.Ala2694=)
c.5254G= (p.Ala1752=)
n.484G=
n.533G=
c.1356G=
c.5278G= (p.Ala1760=)
c.8239G= (p.Ala2747=)
c.8131G= (p.Ala2711=)
c.8113G= (p.Ala2705=)
c.4885G= (p.Ala1629=)
c.2815G= (p.Ala939=)
c.8188G= (p.Ala2730=)
c.8134G= (p.Ala2712=)
c.7924G= (p.Ala2642=)
c.7570G= (p.Ala2524=)
c.5467G= (p.Ala1823=)
n.8417G=
c.8053G= (p.Ala2685=)
c.7249G= (p.Ala2417=)
c.7054G= (p.Ala2352=)
n.8411G=
n.8357G=
n.8466G=
5g.37153871C>GCA117043008CPLANE1n.1241G>C
c.8242G>C (p.Ala2748Pro)
c.8080G>C (p.Ala2694Pro)
c.5254G>C (p.Ala1752Pro)
n.484G>C
n.533G>C
c.1356G>C
c.5278G>C (p.Ala1760Pro)
c.8239G>C (p.Ala2747Pro)
c.8131G>C (p.Ala2711Pro)
c.8113G>C (p.Ala2705Pro)
c.4885G>C (p.Ala1629Pro)
c.2815G>C (p.Ala939Pro)
c.8188G>C (p.Ala2730Pro)
c.8134G>C (p.Ala2712Pro)
c.7924G>C (p.Ala2642Pro)
c.7570G>C (p.Ala2524Pro)
c.5467G>C (p.Ala1823Pro)
n.8417G>C
c.8053G>C (p.Ala2685Pro)
c.7249G>C (p.Ala2417Pro)
c.7054G>C (p.Ala2352Pro)
n.8411G>C
n.8357G>C
n.8466G>C
 dbSNP gnomAD v4
5g.37153871C>TCA3237841CPLANE1n.1241G>A
c.8242G>A (p.Ala2748Thr)
c.8080G>A (p.Ala2694Thr)
c.5254G>A (p.Ala1752Thr)
n.484G>A
n.533G>A
c.1356G>A
c.5278G>A (p.Ala1760Thr)
c.8239G>A (p.Ala2747Thr)
c.8131G>A (p.Ala2711Thr)
c.8113G>A (p.Ala2705Thr)
c.4885G>A (p.Ala1629Thr)
c.2815G>A (p.Ala939Thr)
c.8188G>A (p.Ala2730Thr)
c.8134G>A (p.Ala2712Thr)
c.7924G>A (p.Ala2642Thr)
c.7570G>A (p.Ala2524Thr)
c.5467G>A (p.Ala1823Thr)
n.8417G>A
c.8053G>A (p.Ala2685Thr)
c.7249G>A (p.Ala2417Thr)
c.7054G>A (p.Ala2352Thr)
n.8411G>A
n.8357G>A
n.8466G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37153872T>ACA444096708CPLANE1n.1240A>T
c.8241A>T (p.Ala2747=)
c.8079A>T (p.Ala2693=)
c.5253A>T (p.Ala1751=)
n.483A>T
n.532A>T
c.1355A>T
c.5277A>T (p.Ala1759=)
c.8238A>T (p.Ala2746=)
c.8130A>T (p.Ala2710=)
c.8112A>T (p.Ala2704=)
c.4884A>T (p.Ala1628=)
c.2814A>T (p.Ala938=)
c.8187A>T (p.Ala2729=)
c.8133A>T (p.Ala2711=)
c.7923A>T (p.Ala2641=)
c.7569A>T (p.Ala2523=)
c.5466A>T (p.Ala1822=)
n.8416A>T
c.8052A>T (p.Ala2684=)
c.7248A>T (p.Ala2416=)
c.7053A>T (p.Ala2351=)
n.8410A>T
n.8356A>T
n.8465A>T
5g.37153872T>CCA444096709CPLANE1n.1240A>G
c.8241A>G (p.Ala2747=)
c.8079A>G (p.Ala2693=)
c.5253A>G (p.Ala1751=)
n.483A>G
n.532A>G
c.1355A>G
c.5277A>G (p.Ala1759=)
c.8238A>G (p.Ala2746=)
c.8130A>G (p.Ala2710=)
c.8112A>G (p.Ala2704=)
c.4884A>G (p.Ala1628=)
c.2814A>G (p.Ala938=)
c.8187A>G (p.Ala2729=)
c.8133A>G (p.Ala2711=)
c.7923A>G (p.Ala2641=)
c.7569A>G (p.Ala2523=)
c.5466A>G (p.Ala1822=)
n.8416A>G
c.8052A>G (p.Ala2684=)
c.7248A>G (p.Ala2416=)
c.7053A>G (p.Ala2351=)
n.8410A>G
n.8356A>G
n.8465A>G
 dbSNP gnomAD v4
5g.37153872T>GCA444096710CPLANE1n.1240A>C
c.8241A>C (p.Ala2747=)
c.8079A>C (p.Ala2693=)
c.5253A>C (p.Ala1751=)
n.483A>C
n.532A>C
c.1355A>C
c.5277A>C (p.Ala1759=)
c.8238A>C (p.Ala2746=)
c.8130A>C (p.Ala2710=)
c.8112A>C (p.Ala2704=)
c.4884A>C (p.Ala1628=)
c.2814A>C (p.Ala938=)
c.8187A>C (p.Ala2729=)
c.8133A>C (p.Ala2711=)
c.7923A>C (p.Ala2641=)
c.7569A>C (p.Ala2523=)
c.5466A>C (p.Ala1822=)
n.8416A>C
c.8052A>C (p.Ala2684=)
c.7248A>C (p.Ala2416=)
c.7053A>C (p.Ala2351=)
n.8410A>C
n.8356A>C
n.8465A>C
5g.37153872T=CA1539651236CPLANE1n.1240A=
c.8241A= (p.Ala2747=)
c.8079A= (p.Ala2693=)
c.5253A= (p.Ala1751=)
n.483A=
n.532A=
c.1355A=
c.5277A= (p.Ala1759=)
c.8238A= (p.Ala2746=)
c.8130A= (p.Ala2710=)
c.8112A= (p.Ala2704=)
c.4884A= (p.Ala1628=)
c.2814A= (p.Ala938=)
c.8187A= (p.Ala2729=)
c.8133A= (p.Ala2711=)
c.7923A= (p.Ala2641=)
c.7569A= (p.Ala2523=)
c.5466A= (p.Ala1822=)
n.8416A=
c.8052A= (p.Ala2684=)
c.7248A= (p.Ala2416=)
c.7053A= (p.Ala2351=)
n.8410A=
n.8356A=
n.8465A=
5g.37153873G>ACA359474016CPLANE1n.1239C>T
c.8240C>T (p.Ala2747Val)
c.8078C>T (p.Ala2693Val)
c.5252C>T (p.Ala1751Val)
n.482C>T
n.531C>T
c.1354C>T
c.5276C>T (p.Ala1759Val)
c.8237C>T (p.Ala2746Val)
c.8129C>T (p.Ala2710Val)
c.8111C>T (p.Ala2704Val)
c.4883C>T (p.Ala1628Val)
c.2813C>T (p.Ala938Val)
c.8186C>T (p.Ala2729Val)
c.8132C>T (p.Ala2711Val)
c.7922C>T (p.Ala2641Val)
c.7568C>T (p.Ala2523Val)
c.5465C>T (p.Ala1822Val)
n.8415C>T
c.8051C>T (p.Ala2684Val)
c.7247C>T (p.Ala2416Val)
c.7052C>T (p.Ala2351Val)
n.8409C>T
n.8355C>T
n.8464C>T
 dbSNP
5g.37153873G>CCA359474018CPLANE1n.1239C>G
c.8240C>G (p.Ala2747Gly)
c.8078C>G (p.Ala2693Gly)
c.5252C>G (p.Ala1751Gly)
n.482C>G
n.531C>G
c.1354C>G
c.5276C>G (p.Ala1759Gly)
c.8237C>G (p.Ala2746Gly)
c.8129C>G (p.Ala2710Gly)
c.8111C>G (p.Ala2704Gly)
c.4883C>G (p.Ala1628Gly)
c.2813C>G (p.Ala938Gly)
c.8186C>G (p.Ala2729Gly)
c.8132C>G (p.Ala2711Gly)
c.7922C>G (p.Ala2641Gly)
c.7568C>G (p.Ala2523Gly)
c.5465C>G (p.Ala1822Gly)
n.8415C>G
c.8051C>G (p.Ala2684Gly)
c.7247C>G (p.Ala2416Gly)
c.7052C>G (p.Ala2351Gly)
n.8409C>G
n.8355C>G
n.8464C>G
5g.37153873G=CA1539651243CPLANE1n.1239C=
c.8240C= (p.Ala2747=)
c.8078C= (p.Ala2693=)
c.5252C= (p.Ala1751=)
n.482C=
n.531C=
c.1354C=
c.5276C= (p.Ala1759=)
c.8237C= (p.Ala2746=)
c.8129C= (p.Ala2710=)
c.8111C= (p.Ala2704=)
c.4883C= (p.Ala1628=)
c.2813C= (p.Ala938=)
c.8186C= (p.Ala2729=)
c.8132C= (p.Ala2711=)
c.7922C= (p.Ala2641=)
c.7568C= (p.Ala2523=)
c.5465C= (p.Ala1822=)
n.8415C=
c.8051C= (p.Ala2684=)
c.7247C= (p.Ala2416=)
c.7052C= (p.Ala2351=)
n.8409C=
n.8355C=
n.8464C=
5g.37153873G>TCA359474017CPLANE1n.1239C>A
c.8240C>A (p.Ala2747Glu)
c.8078C>A (p.Ala2693Glu)
c.5252C>A (p.Ala1751Glu)
n.482C>A
n.531C>A
c.1354C>A
c.5276C>A (p.Ala1759Glu)
c.8237C>A (p.Ala2746Glu)
c.8129C>A (p.Ala2710Glu)
c.8111C>A (p.Ala2704Glu)
c.4883C>A (p.Ala1628Glu)
c.2813C>A (p.Ala938Glu)
c.8186C>A (p.Ala2729Glu)
c.8132C>A (p.Ala2711Glu)
c.7922C>A (p.Ala2641Glu)
c.7568C>A (p.Ala2523Glu)
c.5465C>A (p.Ala1822Glu)
n.8415C>A
c.8051C>A (p.Ala2684Glu)
c.7247C>A (p.Ala2416Glu)
c.7052C>A (p.Ala2351Glu)
n.8409C>A
n.8355C>A
n.8464C>A
5g.37153874C>ACA359474020CPLANE1n.1238G>T
c.8239G>T (p.Ala2747Ser)
c.8077G>T (p.Ala2693Ser)
c.5251G>T (p.Ala1751Ser)
n.481G>T
n.530G>T
c.1353G>T
c.5275G>T (p.Ala1759Ser)
c.8236G>T (p.Ala2746Ser)
c.8128G>T (p.Ala2710Ser)
c.8110G>T (p.Ala2704Ser)
c.4882G>T (p.Ala1628Ser)
c.2812G>T (p.Ala938Ser)
c.8185G>T (p.Ala2729Ser)
c.8131G>T (p.Ala2711Ser)
c.7921G>T (p.Ala2641Ser)
c.7567G>T (p.Ala2523Ser)
c.5464G>T (p.Ala1822Ser)
n.8414G>T
c.8050G>T (p.Ala2684Ser)
c.7246G>T (p.Ala2416Ser)
c.7051G>T (p.Ala2351Ser)
n.8408G>T
n.8354G>T
n.8463G>T
 dbSNP
5g.37153874C>GCA359474023CPLANE1n.1238G>C
c.8239G>C (p.Ala2747Pro)
c.8077G>C (p.Ala2693Pro)
c.5251G>C (p.Ala1751Pro)
n.481G>C
n.530G>C
c.1353G>C
c.5275G>C (p.Ala1759Pro)
c.8236G>C (p.Ala2746Pro)
c.8128G>C (p.Ala2710Pro)
c.8110G>C (p.Ala2704Pro)
c.4882G>C (p.Ala1628Pro)
c.2812G>C (p.Ala938Pro)
c.8185G>C (p.Ala2729Pro)
c.8131G>C (p.Ala2711Pro)
c.7921G>C (p.Ala2641Pro)
c.7567G>C (p.Ala2523Pro)
c.5464G>C (p.Ala1822Pro)
n.8414G>C
c.8050G>C (p.Ala2684Pro)
c.7246G>C (p.Ala2416Pro)
c.7051G>C (p.Ala2351Pro)
n.8408G>C
n.8354G>C
n.8463G>C
5g.37153874C>TCA359474021CPLANE1n.1238G>A
c.8239G>A (p.Ala2747Thr)
c.8077G>A (p.Ala2693Thr)
c.5251G>A (p.Ala1751Thr)
n.481G>A
n.530G>A
c.1353G>A
c.5275G>A (p.Ala1759Thr)
c.8236G>A (p.Ala2746Thr)
c.8128G>A (p.Ala2710Thr)
c.8110G>A (p.Ala2704Thr)
c.4882G>A (p.Ala1628Thr)
c.2812G>A (p.Ala938Thr)
c.8185G>A (p.Ala2729Thr)
c.8131G>A (p.Ala2711Thr)
c.7921G>A (p.Ala2641Thr)
c.7567G>A (p.Ala2523Thr)
c.5464G>A (p.Ala1822Thr)
n.8414G>A
c.8050G>A (p.Ala2684Thr)
c.7246G>A (p.Ala2416Thr)
c.7051G>A (p.Ala2351Thr)
n.8408G>A
n.8354G>A
n.8463G>A
5g.37153875A>CCA444096711CPLANE1n.1237T>G
c.8238T>G (p.Ser2746=)
c.8076T>G (p.Ser2692=)
c.5250T>G (p.Ser1750=)
n.480T>G
n.529T>G
c.1352T>G
c.5274T>G (p.Ser1758=)
c.8235T>G (p.Ser2745=)
c.8127T>G (p.Ser2709=)
c.8109T>G (p.Ser2703=)
c.4881T>G (p.Ser1627=)
c.2811T>G (p.Ser937=)
c.8184T>G (p.Ser2728=)
c.8130T>G (p.Ser2710=)
c.7920T>G (p.Ser2640=)
c.7566T>G (p.Ser2522=)
c.5463T>G (p.Ser1821=)
n.8413T>G
c.8049T>G (p.Ser2683=)
c.7245T>G (p.Ser2415=)
c.7050T>G (p.Ser2350=)
n.8407T>G
n.8353T>G
n.8462T>G
5g.37153875A>GCA444096712CPLANE1n.1237T>C
c.8238T>C (p.Ser2746=)
c.8076T>C (p.Ser2692=)
c.5250T>C (p.Ser1750=)
n.480T>C
n.529T>C
c.1352T>C
c.5274T>C (p.Ser1758=)
c.8235T>C (p.Ser2745=)
c.8127T>C (p.Ser2709=)
c.8109T>C (p.Ser2703=)
c.4881T>C (p.Ser1627=)
c.2811T>C (p.Ser937=)
c.8184T>C (p.Ser2728=)
c.8130T>C (p.Ser2710=)
c.7920T>C (p.Ser2640=)
c.7566T>C (p.Ser2522=)
c.5463T>C (p.Ser1821=)
n.8413T>C
c.8049T>C (p.Ser2683=)
c.7245T>C (p.Ser2415=)
c.7050T>C (p.Ser2350=)
n.8407T>C
n.8353T>C
n.8462T>C
5g.37153875A>TCA444096713CPLANE1n.1237T>A
c.8238T>A (p.Ser2746=)
c.8076T>A (p.Ser2692=)
c.5250T>A (p.Ser1750=)
n.480T>A
n.529T>A
c.1352T>A
c.5274T>A (p.Ser1758=)
c.8235T>A (p.Ser2745=)
c.8127T>A (p.Ser2709=)
c.8109T>A (p.Ser2703=)
c.4881T>A (p.Ser1627=)
c.2811T>A (p.Ser937=)
c.8184T>A (p.Ser2728=)
c.8130T>A (p.Ser2710=)
c.7920T>A (p.Ser2640=)
c.7566T>A (p.Ser2522=)
c.5463T>A (p.Ser1821=)
n.8413T>A
c.8049T>A (p.Ser2683=)
c.7245T>A (p.Ser2415=)
c.7050T>A (p.Ser2350=)
n.8407T>A
n.8353T>A
n.8462T>A
5g.37153876G>ACA359474025CPLANE1n.1236C>T
c.8237C>T (p.Ser2746Phe)
c.8075C>T (p.Ser2692Phe)
c.5249C>T (p.Ser1750Phe)
n.479C>T
n.528C>T
c.1351C>T
c.5273C>T (p.Ser1758Phe)
c.8234C>T (p.Ser2745Phe)
c.8126C>T (p.Ser2709Phe)
c.8108C>T (p.Ser2703Phe)
c.4880C>T (p.Ser1627Phe)
c.2810C>T (p.Ser937Phe)
c.8183C>T (p.Ser2728Phe)
c.8129C>T (p.Ser2710Phe)
c.7919C>T (p.Ser2640Phe)
c.7565C>T (p.Ser2522Phe)
c.5462C>T (p.Ser1821Phe)
n.8412C>T
c.8048C>T (p.Ser2683Phe)
c.7244C>T (p.Ser2415Phe)
c.7049C>T (p.Ser2350Phe)
n.8406C>T
n.8352C>T
n.8461C>T
 dbSNP
5g.37153876G>CCA359474028CPLANE1n.1236C>G
c.8237C>G (p.Ser2746Cys)
c.8075C>G (p.Ser2692Cys)
c.5249C>G (p.Ser1750Cys)
n.479C>G
n.528C>G
c.1351C>G
c.5273C>G (p.Ser1758Cys)
c.8234C>G (p.Ser2745Cys)
c.8126C>G (p.Ser2709Cys)
c.8108C>G (p.Ser2703Cys)
c.4880C>G (p.Ser1627Cys)
c.2810C>G (p.Ser937Cys)
c.8183C>G (p.Ser2728Cys)
c.8129C>G (p.Ser2710Cys)
c.7919C>G (p.Ser2640Cys)
c.7565C>G (p.Ser2522Cys)
c.5462C>G (p.Ser1821Cys)
n.8412C>G
c.8048C>G (p.Ser2683Cys)
c.7244C>G (p.Ser2415Cys)
c.7049C>G (p.Ser2350Cys)
n.8406C>G
n.8352C>G
n.8461C>G
5g.37153876G>TCA359474027CPLANE1n.1236C>A
c.8237C>A (p.Ser2746Tyr)
c.8075C>A (p.Ser2692Tyr)
c.5249C>A (p.Ser1750Tyr)
n.479C>A
n.528C>A
c.1351C>A
c.5273C>A (p.Ser1758Tyr)
c.8234C>A (p.Ser2745Tyr)
c.8126C>A (p.Ser2709Tyr)
c.8108C>A (p.Ser2703Tyr)
c.4880C>A (p.Ser1627Tyr)
c.2810C>A (p.Ser937Tyr)
c.8183C>A (p.Ser2728Tyr)
c.8129C>A (p.Ser2710Tyr)
c.7919C>A (p.Ser2640Tyr)
c.7565C>A (p.Ser2522Tyr)
c.5462C>A (p.Ser1821Tyr)
n.8412C>A
c.8048C>A (p.Ser2683Tyr)
c.7244C>A (p.Ser2415Tyr)
c.7049C>A (p.Ser2350Tyr)
n.8406C>A
n.8352C>A
n.8461C>A
5g.37153877A>CCA359474030CPLANE1n.1235T>G
c.8236T>G (p.Ser2746Ala)
c.8074T>G (p.Ser2692Ala)
c.5248T>G (p.Ser1750Ala)
n.478T>G
n.527T>G
c.1350T>G
c.5272T>G (p.Ser1758Ala)
c.8233T>G (p.Ser2745Ala)
c.8125T>G (p.Ser2709Ala)
c.8107T>G (p.Ser2703Ala)
c.4879T>G (p.Ser1627Ala)
c.2809T>G (p.Ser937Ala)
c.8182T>G (p.Ser2728Ala)
c.8128T>G (p.Ser2710Ala)
c.7918T>G (p.Ser2640Ala)
c.7564T>G (p.Ser2522Ala)
c.5461T>G (p.Ser1821Ala)
n.8411T>G
c.8047T>G (p.Ser2683Ala)
c.7243T>G (p.Ser2415Ala)
c.7048T>G (p.Ser2350Ala)
n.8405T>G
n.8351T>G
n.8460T>G
5g.37153877A>GCA359474031CPLANE1n.1235T>C
c.8236T>C (p.Ser2746Pro)
c.8074T>C (p.Ser2692Pro)
c.5248T>C (p.Ser1750Pro)
n.478T>C
n.527T>C
c.1350T>C
c.5272T>C (p.Ser1758Pro)
c.8233T>C (p.Ser2745Pro)
c.8125T>C (p.Ser2709Pro)
c.8107T>C (p.Ser2703Pro)
c.4879T>C (p.Ser1627Pro)
c.2809T>C (p.Ser937Pro)
c.8182T>C (p.Ser2728Pro)
c.8128T>C (p.Ser2710Pro)
c.7918T>C (p.Ser2640Pro)
c.7564T>C (p.Ser2522Pro)
c.5461T>C (p.Ser1821Pro)
n.8411T>C
c.8047T>C (p.Ser2683Pro)
c.7243T>C (p.Ser2415Pro)
c.7048T>C (p.Ser2350Pro)
n.8405T>C
n.8351T>C
n.8460T>C
5g.37153877A>TCA359474033CPLANE1n.1235T>A
c.8236T>A (p.Ser2746Thr)
c.8074T>A (p.Ser2692Thr)
c.5248T>A (p.Ser1750Thr)
n.478T>A
n.527T>A
c.1350T>A
c.5272T>A (p.Ser1758Thr)
c.8233T>A (p.Ser2745Thr)
c.8125T>A (p.Ser2709Thr)
c.8107T>A (p.Ser2703Thr)
c.4879T>A (p.Ser1627Thr)
c.2809T>A (p.Ser937Thr)
c.8182T>A (p.Ser2728Thr)
c.8128T>A (p.Ser2710Thr)
c.7918T>A (p.Ser2640Thr)
c.7564T>A (p.Ser2522Thr)
c.5461T>A (p.Ser1821Thr)
n.8411T>A
c.8047T>A (p.Ser2683Thr)
c.7243T>A (p.Ser2415Thr)
c.7048T>A (p.Ser2350Thr)
n.8405T>A
n.8351T>A
n.8460T>A
5g.37153878G>ACA444096714CPLANE1n.1234C>T
c.8235C>T (p.Ser2745=)
c.8073C>T (p.Ser2691=)
c.5247C>T (p.Ser1749=)
n.477C>T
n.526C>T
c.1349C>T
c.5271C>T (p.Ser1757=)
c.8232C>T (p.Ser2744=)
c.8124C>T (p.Ser2708=)
c.8106C>T (p.Ser2702=)
c.4878C>T (p.Ser1626=)
c.2808C>T (p.Ser936=)
c.8181C>T (p.Ser2727=)
c.8127C>T (p.Ser2709=)
c.7917C>T (p.Ser2639=)
c.7563C>T (p.Ser2521=)
c.5460C>T (p.Ser1820=)
n.8410C>T
c.8046C>T (p.Ser2682=)
c.7242C>T (p.Ser2414=)
c.7047C>T (p.Ser2349=)
n.8404C>T
n.8350C>T
n.8459C>T
5g.37153878G>CCA359474034CPLANE1n.1234C>G
c.8235C>G (p.Ser2745Arg)
c.8073C>G (p.Ser2691Arg)
c.5247C>G (p.Ser1749Arg)
n.477C>G
n.526C>G
c.1349C>G
c.5271C>G (p.Ser1757Arg)
c.8232C>G (p.Ser2744Arg)
c.8124C>G (p.Ser2708Arg)
c.8106C>G (p.Ser2702Arg)
c.4878C>G (p.Ser1626Arg)
c.2808C>G (p.Ser936Arg)
c.8181C>G (p.Ser2727Arg)
c.8127C>G (p.Ser2709Arg)
c.7917C>G (p.Ser2639Arg)
c.7563C>G (p.Ser2521Arg)
c.5460C>G (p.Ser1820Arg)
n.8410C>G
c.8046C>G (p.Ser2682Arg)
c.7242C>G (p.Ser2414Arg)
c.7047C>G (p.Ser2349Arg)
n.8404C>G
n.8350C>G
n.8459C>G
5g.37153878G>TCA359474036CPLANE1n.1234C>A
c.8235C>A (p.Ser2745Arg)
c.8073C>A (p.Ser2691Arg)
c.5247C>A (p.Ser1749Arg)
n.477C>A
n.526C>A
c.1349C>A
c.5271C>A (p.Ser1757Arg)
c.8232C>A (p.Ser2744Arg)
c.8124C>A (p.Ser2708Arg)
c.8106C>A (p.Ser2702Arg)
c.4878C>A (p.Ser1626Arg)
c.2808C>A (p.Ser936Arg)
c.8181C>A (p.Ser2727Arg)
c.8127C>A (p.Ser2709Arg)
c.7917C>A (p.Ser2639Arg)
c.7563C>A (p.Ser2521Arg)
c.5460C>A (p.Ser1820Arg)
n.8410C>A
c.8046C>A (p.Ser2682Arg)
c.7242C>A (p.Ser2414Arg)
c.7047C>A (p.Ser2349Arg)
n.8404C>A
n.8350C>A
n.8459C>A
5g.37153879C>ACA359474038CPLANE1n.1233G>T
c.8234G>T (p.Ser2745Ile)
c.8072G>T (p.Ser2691Ile)
c.5246G>T (p.Ser1749Ile)
n.476G>T
n.525G>T
c.1348G>T
c.5270G>T (p.Ser1757Ile)
c.8231G>T (p.Ser2744Ile)
c.8123G>T (p.Ser2708Ile)
c.8105G>T (p.Ser2702Ile)
c.4877G>T (p.Ser1626Ile)
c.2807G>T (p.Ser936Ile)
c.8180G>T (p.Ser2727Ile)
c.8126G>T (p.Ser2709Ile)
c.7916G>T (p.Ser2639Ile)
c.7562G>T (p.Ser2521Ile)
c.5459G>T (p.Ser1820Ile)
n.8409G>T
c.8045G>T (p.Ser2682Ile)
c.7241G>T (p.Ser2414Ile)
c.7046G>T (p.Ser2349Ile)
n.8403G>T
n.8349G>T
n.8458G>T
5g.37153879C>GCA359474039CPLANE1n.1233G>C
c.8234G>C (p.Ser2745Thr)
c.8072G>C (p.Ser2691Thr)
c.5246G>C (p.Ser1749Thr)
n.476G>C
n.525G>C
c.1348G>C
c.5270G>C (p.Ser1757Thr)
c.8231G>C (p.Ser2744Thr)
c.8123G>C (p.Ser2708Thr)
c.8105G>C (p.Ser2702Thr)
c.4877G>C (p.Ser1626Thr)
c.2807G>C (p.Ser936Thr)
c.8180G>C (p.Ser2727Thr)
c.8126G>C (p.Ser2709Thr)
c.7916G>C (p.Ser2639Thr)
c.7562G>C (p.Ser2521Thr)
c.5459G>C (p.Ser1820Thr)
n.8409G>C
c.8045G>C (p.Ser2682Thr)
c.7241G>C (p.Ser2414Thr)
c.7046G>C (p.Ser2349Thr)
n.8403G>C
n.8349G>C
n.8458G>C
5g.37153879C>TCA359474041CPLANE1n.1233G>A
c.8234G>A (p.Ser2745Asn)
c.8072G>A (p.Ser2691Asn)
c.5246G>A (p.Ser1749Asn)
n.476G>A
n.525G>A
c.1348G>A
c.5270G>A (p.Ser1757Asn)
c.8231G>A (p.Ser2744Asn)
c.8123G>A (p.Ser2708Asn)
c.8105G>A (p.Ser2702Asn)
c.4877G>A (p.Ser1626Asn)
c.2807G>A (p.Ser936Asn)
c.8180G>A (p.Ser2727Asn)
c.8126G>A (p.Ser2709Asn)
c.7916G>A (p.Ser2639Asn)
c.7562G>A (p.Ser2521Asn)
c.5459G>A (p.Ser1820Asn)
n.8409G>A
c.8045G>A (p.Ser2682Asn)
c.7241G>A (p.Ser2414Asn)
c.7046G>A (p.Ser2349Asn)
n.8403G>A
n.8349G>A
n.8458G>A
 gnomAD v4
5g.37153880T>ACA359474042CPLANE1n.1232A>T
c.8233A>T (p.Ser2745Cys)
c.8071A>T (p.Ser2691Cys)
c.5245A>T (p.Ser1749Cys)
n.475A>T
n.524A>T
c.1347A>T
c.5269A>T (p.Ser1757Cys)
c.8230A>T (p.Ser2744Cys)
c.8122A>T (p.Ser2708Cys)
c.8104A>T (p.Ser2702Cys)
c.4876A>T (p.Ser1626Cys)
c.2806A>T (p.Ser936Cys)
c.8179A>T (p.Ser2727Cys)
c.8125A>T (p.Ser2709Cys)
c.7915A>T (p.Ser2639Cys)
c.7561A>T (p.Ser2521Cys)
c.5458A>T (p.Ser1820Cys)
n.8408A>T
c.8044A>T (p.Ser2682Cys)
c.7240A>T (p.Ser2414Cys)
c.7045A>T (p.Ser2349Cys)
n.8402A>T
n.8348A>T
n.8457A>T
5g.37153880T>CCA359474044CPLANE1n.1232A>G
c.8233A>G (p.Ser2745Gly)
c.8071A>G (p.Ser2691Gly)
c.5245A>G (p.Ser1749Gly)
n.475A>G
n.524A>G
c.1347A>G
c.5269A>G (p.Ser1757Gly)
c.8230A>G (p.Ser2744Gly)
c.8122A>G (p.Ser2708Gly)
c.8104A>G (p.Ser2702Gly)
c.4876A>G (p.Ser1626Gly)
c.2806A>G (p.Ser936Gly)
c.8179A>G (p.Ser2727Gly)
c.8125A>G (p.Ser2709Gly)
c.7915A>G (p.Ser2639Gly)
c.7561A>G (p.Ser2521Gly)
c.5458A>G (p.Ser1820Gly)
n.8408A>G
c.8044A>G (p.Ser2682Gly)
c.7240A>G (p.Ser2414Gly)
c.7045A>G (p.Ser2349Gly)
n.8402A>G
n.8348A>G
n.8457A>G
 gnomAD v4
5g.37153880T>GCA359474046CPLANE1n.1232A>C
c.8233A>C (p.Ser2745Arg)
c.8071A>C (p.Ser2691Arg)
c.5245A>C (p.Ser1749Arg)
n.475A>C
n.524A>C
c.1347A>C
c.5269A>C (p.Ser1757Arg)
c.8230A>C (p.Ser2744Arg)
c.8122A>C (p.Ser2708Arg)
c.8104A>C (p.Ser2702Arg)
c.4876A>C (p.Ser1626Arg)
c.2806A>C (p.Ser936Arg)
c.8179A>C (p.Ser2727Arg)
c.8125A>C (p.Ser2709Arg)
c.7915A>C (p.Ser2639Arg)
c.7561A>C (p.Ser2521Arg)
c.5458A>C (p.Ser1820Arg)
n.8408A>C
c.8044A>C (p.Ser2682Arg)
c.7240A>C (p.Ser2414Arg)
c.7045A>C (p.Ser2349Arg)
n.8402A>C
n.8348A>C
n.8457A>C
 COSMIC COSMIC
5g.37153881T>ACA444096717CPLANE1n.1231A>T
c.8232A>T (p.Pro2744=)
c.8070A>T (p.Pro2690=)
c.5244A>T (p.Pro1748=)
n.474A>T
n.523A>T
c.1346A>T
c.5268A>T (p.Pro1756=)
c.8229A>T (p.Pro2743=)
c.8121A>T (p.Pro2707=)
c.8103A>T (p.Pro2701=)
c.4875A>T (p.Pro1625=)
c.2805A>T (p.Pro935=)
c.8178A>T (p.Pro2726=)
c.8124A>T (p.Pro2708=)
c.7914A>T (p.Pro2638=)
c.7560A>T (p.Pro2520=)
c.5457A>T (p.Pro1819=)
n.8407A>T
c.8043A>T (p.Pro2681=)
c.7239A>T (p.Pro2413=)
c.7044A>T (p.Pro2348=)
n.8401A>T
n.8347A>T
n.8456A>T
5g.37153881T>CCA444096715CPLANE1n.1231A>G
c.8232A>G (p.Pro2744=)
c.8070A>G (p.Pro2690=)
c.5244A>G (p.Pro1748=)
n.474A>G
n.523A>G
c.1346A>G
c.5268A>G (p.Pro1756=)
c.8229A>G (p.Pro2743=)
c.8121A>G (p.Pro2707=)
c.8103A>G (p.Pro2701=)
c.4875A>G (p.Pro1625=)
c.2805A>G (p.Pro935=)
c.8178A>G (p.Pro2726=)
c.8124A>G (p.Pro2708=)
c.7914A>G (p.Pro2638=)
c.7560A>G (p.Pro2520=)
c.5457A>G (p.Pro1819=)
n.8407A>G
c.8043A>G (p.Pro2681=)
c.7239A>G (p.Pro2413=)
c.7044A>G (p.Pro2348=)
n.8401A>G
n.8347A>G
n.8456A>G
 gnomAD v4
5g.37153881T>GCA444096716CPLANE1n.1231A>C
c.8232A>C (p.Pro2744=)
c.8070A>C (p.Pro2690=)
c.5244A>C (p.Pro1748=)
n.474A>C
n.523A>C
c.1346A>C
c.5268A>C (p.Pro1756=)
c.8229A>C (p.Pro2743=)
c.8121A>C (p.Pro2707=)
c.8103A>C (p.Pro2701=)
c.4875A>C (p.Pro1625=)
c.2805A>C (p.Pro935=)
c.8178A>C (p.Pro2726=)
c.8124A>C (p.Pro2708=)
c.7914A>C (p.Pro2638=)
c.7560A>C (p.Pro2520=)
c.5457A>C (p.Pro1819=)
n.8407A>C
c.8043A>C (p.Pro2681=)
c.7239A>C (p.Pro2413=)
c.7044A>C (p.Pro2348=)
n.8401A>C
n.8347A>C
n.8456A>C
5g.37153882G>ACA359474047CPLANE1n.1230C>T
c.8231C>T (p.Pro2744Leu)
c.8069C>T (p.Pro2690Leu)
c.5243C>T (p.Pro1748Leu)
n.473C>T
n.522C>T
c.1345C>T
c.5267C>T (p.Pro1756Leu)
c.8228C>T (p.Pro2743Leu)
c.8120C>T (p.Pro2707Leu)
c.8102C>T (p.Pro2701Leu)
c.4874C>T (p.Pro1625Leu)
c.2804C>T (p.Pro935Leu)
c.8177C>T (p.Pro2726Leu)
c.8123C>T (p.Pro2708Leu)
c.7913C>T (p.Pro2638Leu)
c.7559C>T (p.Pro2520Leu)
c.5456C>T (p.Pro1819Leu)
n.8406C>T
c.8042C>T (p.Pro2681Leu)
c.7238C>T (p.Pro2413Leu)
c.7043C>T (p.Pro2348Leu)
n.8400C>T
n.8346C>T
n.8455C>T
5g.37153882G>CCA359474050CPLANE1n.1230C>G
c.8231C>G (p.Pro2744Arg)
c.8069C>G (p.Pro2690Arg)
c.5243C>G (p.Pro1748Arg)
n.473C>G
n.522C>G
c.1345C>G
c.5267C>G (p.Pro1756Arg)
c.8228C>G (p.Pro2743Arg)
c.8120C>G (p.Pro2707Arg)
c.8102C>G (p.Pro2701Arg)
c.4874C>G (p.Pro1625Arg)
c.2804C>G (p.Pro935Arg)
c.8177C>G (p.Pro2726Arg)
c.8123C>G (p.Pro2708Arg)
c.7913C>G (p.Pro2638Arg)
c.7559C>G (p.Pro2520Arg)
c.5456C>G (p.Pro1819Arg)
n.8406C>G
c.8042C>G (p.Pro2681Arg)
c.7238C>G (p.Pro2413Arg)
c.7043C>G (p.Pro2348Arg)
n.8400C>G
n.8346C>G
n.8455C>G
5g.37153882G>TCA359474049CPLANE1n.1230C>A
c.8231C>A (p.Pro2744Gln)
c.8069C>A (p.Pro2690Gln)
c.5243C>A (p.Pro1748Gln)
n.473C>A
n.522C>A
c.1345C>A
c.5267C>A (p.Pro1756Gln)
c.8228C>A (p.Pro2743Gln)
c.8120C>A (p.Pro2707Gln)
c.8102C>A (p.Pro2701Gln)
c.4874C>A (p.Pro1625Gln)
c.2804C>A (p.Pro935Gln)
c.8177C>A (p.Pro2726Gln)
c.8123C>A (p.Pro2708Gln)
c.7913C>A (p.Pro2638Gln)
c.7559C>A (p.Pro2520Gln)
c.5456C>A (p.Pro1819Gln)
n.8406C>A
c.8042C>A (p.Pro2681Gln)
c.7238C>A (p.Pro2413Gln)
c.7043C>A (p.Pro2348Gln)
n.8400C>A
n.8346C>A
n.8455C>A
5g.37153883G>ACA359474052CPLANE1n.1229C>T
c.8230C>T (p.Pro2744Ser)
c.8068C>T (p.Pro2690Ser)
c.5242C>T (p.Pro1748Ser)
n.472C>T
n.521C>T
c.1344C>T
c.5266C>T (p.Pro1756Ser)
c.8227C>T (p.Pro2743Ser)
c.8119C>T (p.Pro2707Ser)
c.8101C>T (p.Pro2701Ser)
c.4873C>T (p.Pro1625Ser)
c.2803C>T (p.Pro935Ser)
c.8176C>T (p.Pro2726Ser)
c.8122C>T (p.Pro2708Ser)
c.7912C>T (p.Pro2638Ser)
c.7558C>T (p.Pro2520Ser)
c.5455C>T (p.Pro1819Ser)
n.8405C>T
c.8041C>T (p.Pro2681Ser)
c.7237C>T (p.Pro2413Ser)
c.7042C>T (p.Pro2348Ser)
n.8399C>T
n.8345C>T
n.8454C>T
 dbSNP
5g.37153883G>CCA359474053CPLANE1n.1229C>G
c.8230C>G (p.Pro2744Ala)
c.8068C>G (p.Pro2690Ala)
c.5242C>G (p.Pro1748Ala)
n.472C>G
n.521C>G
c.1344C>G
c.5266C>G (p.Pro1756Ala)
c.8227C>G (p.Pro2743Ala)
c.8119C>G (p.Pro2707Ala)
c.8101C>G (p.Pro2701Ala)
c.4873C>G (p.Pro1625Ala)
c.2803C>G (p.Pro935Ala)
c.8176C>G (p.Pro2726Ala)
c.8122C>G (p.Pro2708Ala)
c.7912C>G (p.Pro2638Ala)
c.7558C>G (p.Pro2520Ala)
c.5455C>G (p.Pro1819Ala)
n.8405C>G
c.8041C>G (p.Pro2681Ala)
c.7237C>G (p.Pro2413Ala)
c.7042C>G (p.Pro2348Ala)
n.8399C>G
n.8345C>G
n.8454C>G
 gnomAD v4
5g.37153883G=CA1539651248CPLANE1n.1229C=
c.8230C= (p.Pro2744=)
c.8068C= (p.Pro2690=)
c.5242C= (p.Pro1748=)
n.472C=
n.521C=
c.1344C=
c.5266C= (p.Pro1756=)
c.8227C= (p.Pro2743=)
c.8119C= (p.Pro2707=)
c.8101C= (p.Pro2701=)
c.4873C= (p.Pro1625=)
c.2803C= (p.Pro935=)
c.8176C= (p.Pro2726=)
c.8122C= (p.Pro2708=)
c.7912C= (p.Pro2638=)
c.7558C= (p.Pro2520=)
c.5455C= (p.Pro1819=)
n.8405C=
c.8041C= (p.Pro2681=)
c.7237C= (p.Pro2413=)
c.7042C= (p.Pro2348=)
n.8399C=
n.8345C=
n.8454C=
5g.37153883G>TCA359474055CPLANE1n.1229C>A
c.8230C>A (p.Pro2744Thr)
c.8068C>A (p.Pro2690Thr)
c.5242C>A (p.Pro1748Thr)
n.472C>A
n.521C>A
c.1344C>A
c.5266C>A (p.Pro1756Thr)
c.8227C>A (p.Pro2743Thr)
c.8119C>A (p.Pro2707Thr)
c.8101C>A (p.Pro2701Thr)
c.4873C>A (p.Pro1625Thr)
c.2803C>A (p.Pro935Thr)
c.8176C>A (p.Pro2726Thr)
c.8122C>A (p.Pro2708Thr)
c.7912C>A (p.Pro2638Thr)
c.7558C>A (p.Pro2520Thr)
c.5455C>A (p.Pro1819Thr)
n.8405C>A
c.8041C>A (p.Pro2681Thr)
c.7237C>A (p.Pro2413Thr)
c.7042C>A (p.Pro2348Thr)
n.8399C>A
n.8345C>A
n.8454C>A
5g.37153884T>ACA444096718CPLANE1n.1228A>T
c.8229A>T (p.Ala2743=)
c.8067A>T (p.Ala2689=)
c.5241A>T (p.Ala1747=)
n.471A>T
n.520A>T
c.1343A>T
c.5265A>T (p.Ala1755=)
c.8226A>T (p.Ala2742=)
c.8118A>T (p.Ala2706=)
c.8100A>T (p.Ala2700=)
c.4872A>T (p.Ala1624=)
c.2802A>T (p.Ala934=)
c.8175A>T (p.Ala2725=)
c.8121A>T (p.Ala2707=)
c.7911A>T (p.Ala2637=)
c.7557A>T (p.Ala2519=)
c.5454A>T (p.Ala1818=)
n.8404A>T
c.8040A>T (p.Ala2680=)
c.7236A>T (p.Ala2412=)
c.7041A>T (p.Ala2347=)
n.8398A>T
n.8344A>T
n.8453A>T
5g.37153884T>CCA444096719CPLANE1n.1228A>G
c.8229A>G (p.Ala2743=)
c.8067A>G (p.Ala2689=)
c.5241A>G (p.Ala1747=)
n.471A>G
n.520A>G
c.1343A>G
c.5265A>G (p.Ala1755=)
c.8226A>G (p.Ala2742=)
c.8118A>G (p.Ala2706=)
c.8100A>G (p.Ala2700=)
c.4872A>G (p.Ala1624=)
c.2802A>G (p.Ala934=)
c.8175A>G (p.Ala2725=)
c.8121A>G (p.Ala2707=)
c.7911A>G (p.Ala2637=)
c.7557A>G (p.Ala2519=)
c.5454A>G (p.Ala1818=)
n.8404A>G
c.8040A>G (p.Ala2680=)
c.7236A>G (p.Ala2412=)
c.7041A>G (p.Ala2347=)
n.8398A>G
n.8344A>G
n.8453A>G
5g.37153884T>GCA444096720CPLANE1n.1228A>C
c.8229A>C (p.Ala2743=)
c.8067A>C (p.Ala2689=)
c.5241A>C (p.Ala1747=)
n.471A>C
n.520A>C
c.1343A>C
c.5265A>C (p.Ala1755=)
c.8226A>C (p.Ala2742=)
c.8118A>C (p.Ala2706=)
c.8100A>C (p.Ala2700=)
c.4872A>C (p.Ala1624=)
c.2802A>C (p.Ala934=)
c.8175A>C (p.Ala2725=)
c.8121A>C (p.Ala2707=)
c.7911A>C (p.Ala2637=)
c.7557A>C (p.Ala2519=)
c.5454A>C (p.Ala1818=)
n.8404A>C
c.8040A>C (p.Ala2680=)
c.7236A>C (p.Ala2412=)
c.7041A>C (p.Ala2347=)
n.8398A>C
n.8344A>C
n.8453A>C
 dbSNP gnomAD v2 gnomAD v4
5g.37153884T=CA1539651255CPLANE1n.1228A=
c.8229A= (p.Ala2743=)
c.8067A= (p.Ala2689=)
c.5241A= (p.Ala1747=)
n.471A=
n.520A=
c.1343A=
c.5265A= (p.Ala1755=)
c.8226A= (p.Ala2742=)
c.8118A= (p.Ala2706=)
c.8100A= (p.Ala2700=)
c.4872A= (p.Ala1624=)
c.2802A= (p.Ala934=)
c.8175A= (p.Ala2725=)
c.8121A= (p.Ala2707=)
c.7911A= (p.Ala2637=)
c.7557A= (p.Ala2519=)
c.5454A= (p.Ala1818=)
n.8404A=
c.8040A= (p.Ala2680=)
c.7236A= (p.Ala2412=)
c.7041A= (p.Ala2347=)
n.8398A=
n.8344A=
n.8453A=
5g.37153884_37153887dupCA2673584240CPLANE1n.1225_1228dup
c.8226_8229dup (p.Pro2744CysfsTer15)
c.8064_8067dup (p.Pro2690CysfsTer15)
c.5238_5241dup (p.Pro1748CysfsTer15)
n.468_471dup
n.517_520dup
c.1340_1343dup
c.5262_5265dup (p.Pro1756CysfsTer15)
c.8223_8226dup (p.Pro2743CysfsTer15)
c.8115_8118dup (p.Pro2707CysfsTer15)
c.8097_8100dup (p.Pro2701CysfsTer15)
c.4869_4872dup (p.Pro1625CysfsTer15)
c.2799_2802dup (p.Pro935CysfsTer15)
c.8172_8175dup (p.Pro2726CysfsTer15)
c.8118_8121dup (p.Pro2708CysfsTer15)
c.7908_7911dup (p.Pro2638CysfsTer15)
c.7554_7557dup (p.Pro2520CysfsTer15)
c.5451_5454dup (p.Pro1819CysfsTer15)
n.8401_8404dup
c.8037_8040dup (p.Pro2681CysfsTer15)
c.7233_7236dup (p.Pro2413CysfsTer15)
c.7038_7041dup (p.Pro2348CysfsTer15)
n.8395_8398dup
n.8341_8344dup
n.8450_8453dup
 gnomAD v4
5g.37153885G>ACA117043026CPLANE1n.1227C>T
c.8228C>T (p.Ala2743Val)
c.8066C>T (p.Ala2689Val)
c.5240C>T (p.Ala1747Val)
n.470C>T
n.519C>T
c.1342C>T
c.5264C>T (p.Ala1755Val)
c.8225C>T (p.Ala2742Val)
c.8117C>T (p.Ala2706Val)
c.8099C>T (p.Ala2700Val)
c.4871C>T (p.Ala1624Val)
c.2801C>T (p.Ala934Val)
c.8174C>T (p.Ala2725Val)
c.8120C>T (p.Ala2707Val)
c.7910C>T (p.Ala2637Val)
c.7556C>T (p.Ala2519Val)
c.5453C>T (p.Ala1818Val)
n.8403C>T
c.8039C>T (p.Ala2680Val)
c.7235C>T (p.Ala2412Val)
c.7040C>T (p.Ala2347Val)
n.8397C>T
n.8343C>T
n.8452C>T
 dbSNP
5g.37153885G>CCA359474057CPLANE1n.1227C>G
c.8228C>G (p.Ala2743Gly)
c.8066C>G (p.Ala2689Gly)
c.5240C>G (p.Ala1747Gly)
n.470C>G
n.519C>G
c.1342C>G
c.5264C>G (p.Ala1755Gly)
c.8225C>G (p.Ala2742Gly)
c.8117C>G (p.Ala2706Gly)
c.8099C>G (p.Ala2700Gly)
c.4871C>G (p.Ala1624Gly)
c.2801C>G (p.Ala934Gly)
c.8174C>G (p.Ala2725Gly)
c.8120C>G (p.Ala2707Gly)
c.7910C>G (p.Ala2637Gly)
c.7556C>G (p.Ala2519Gly)
c.5453C>G (p.Ala1818Gly)
n.8403C>G
c.8039C>G (p.Ala2680Gly)
c.7235C>G (p.Ala2412Gly)
c.7040C>G (p.Ala2347Gly)
n.8397C>G
n.8343C>G
n.8452C>G
5g.37153885G=CA1539651262CPLANE1n.1227C=
c.8228C= (p.Ala2743=)
c.8066C= (p.Ala2689=)
c.5240C= (p.Ala1747=)
n.470C=
n.519C=
c.1342C=
c.5264C= (p.Ala1755=)
c.8225C= (p.Ala2742=)
c.8117C= (p.Ala2706=)
c.8099C= (p.Ala2700=)
c.4871C= (p.Ala1624=)
c.2801C= (p.Ala934=)
c.8174C= (p.Ala2725=)
c.8120C= (p.Ala2707=)
c.7910C= (p.Ala2637=)
c.7556C= (p.Ala2519=)
c.5453C= (p.Ala1818=)
n.8403C=
c.8039C= (p.Ala2680=)
c.7235C= (p.Ala2412=)
c.7040C= (p.Ala2347=)
n.8397C=
n.8343C=
n.8452C=
5g.37153885G>TCA359474058CPLANE1n.1227C>A
c.8228C>A (p.Ala2743Glu)
c.8066C>A (p.Ala2689Glu)
c.5240C>A (p.Ala1747Glu)
n.470C>A
n.519C>A
c.1342C>A
c.5264C>A (p.Ala1755Glu)
c.8225C>A (p.Ala2742Glu)
c.8117C>A (p.Ala2706Glu)
c.8099C>A (p.Ala2700Glu)
c.4871C>A (p.Ala1624Glu)
c.2801C>A (p.Ala934Glu)
c.8174C>A (p.Ala2725Glu)
c.8120C>A (p.Ala2707Glu)
c.7910C>A (p.Ala2637Glu)
c.7556C>A (p.Ala2519Glu)
c.5453C>A (p.Ala1818Glu)
n.8403C>A
c.8039C>A (p.Ala2680Glu)
c.7235C>A (p.Ala2412Glu)
c.7040C>A (p.Ala2347Glu)
n.8397C>A
n.8343C>A
n.8452C>A
5g.37153886C>ACA359474059CPLANE1n.1226G>T
c.8227G>T (p.Ala2743Ser)
c.8065G>T (p.Ala2689Ser)
c.5239G>T (p.Ala1747Ser)
n.469G>T
n.518G>T
c.1341G>T
c.5263G>T (p.Ala1755Ser)
c.8224G>T (p.Ala2742Ser)
c.8116G>T (p.Ala2706Ser)
c.8098G>T (p.Ala2700Ser)
c.4870G>T (p.Ala1624Ser)
c.2800G>T (p.Ala934Ser)
c.8173G>T (p.Ala2725Ser)
c.8119G>T (p.Ala2707Ser)
c.7909G>T (p.Ala2637Ser)
c.7555G>T (p.Ala2519Ser)
c.5452G>T (p.Ala1818Ser)
n.8402G>T
c.8038G>T (p.Ala2680Ser)
c.7234G>T (p.Ala2412Ser)
c.7039G>T (p.Ala2347Ser)
n.8396G>T
n.8342G>T
n.8451G>T
5g.37153886C>GCA359474061CPLANE1n.1226G>C
c.8227G>C (p.Ala2743Pro)
c.8065G>C (p.Ala2689Pro)
c.5239G>C (p.Ala1747Pro)
n.469G>C
n.518G>C
c.1341G>C
c.5263G>C (p.Ala1755Pro)
c.8224G>C (p.Ala2742Pro)
c.8116G>C (p.Ala2706Pro)
c.8098G>C (p.Ala2700Pro)
c.4870G>C (p.Ala1624Pro)
c.2800G>C (p.Ala934Pro)
c.8173G>C (p.Ala2725Pro)
c.8119G>C (p.Ala2707Pro)
c.7909G>C (p.Ala2637Pro)
c.7555G>C (p.Ala2519Pro)
c.5452G>C (p.Ala1818Pro)
n.8402G>C
c.8038G>C (p.Ala2680Pro)
c.7234G>C (p.Ala2412Pro)
c.7039G>C (p.Ala2347Pro)
n.8396G>C
n.8342G>C
n.8451G>C
5g.37153886C>TCA359474062CPLANE1n.1226G>A
c.8227G>A (p.Ala2743Thr)
c.8065G>A (p.Ala2689Thr)
c.5239G>A (p.Ala1747Thr)
n.469G>A
n.518G>A
c.1341G>A
c.5263G>A (p.Ala1755Thr)
c.8224G>A (p.Ala2742Thr)
c.8116G>A (p.Ala2706Thr)
c.8098G>A (p.Ala2700Thr)
c.4870G>A (p.Ala1624Thr)
c.2800G>A (p.Ala934Thr)
c.8173G>A (p.Ala2725Thr)
c.8119G>A (p.Ala2707Thr)
c.7909G>A (p.Ala2637Thr)
c.7555G>A (p.Ala2519Thr)
c.5452G>A (p.Ala1818Thr)
n.8402G>A
c.8038G>A (p.Ala2680Thr)
c.7234G>A (p.Ala2412Thr)
c.7039G>A (p.Ala2347Thr)
n.8396G>A
n.8342G>A
n.8451G>A
5g.37153887A=CA1539651268CPLANE1n.1225T=
c.8226T= (p.Pro2742=)
c.8064T= (p.Pro2688=)
c.5238T= (p.Pro1746=)
n.468T=
n.517T=
c.1340T=
c.5262T= (p.Pro1754=)
c.8223T= (p.Pro2741=)
c.8115T= (p.Pro2705=)
c.8097T= (p.Pro2699=)
c.4869T= (p.Pro1623=)
c.2799T= (p.Pro933=)
c.8172T= (p.Pro2724=)
c.8118T= (p.Pro2706=)
c.7908T= (p.Pro2636=)
c.7554T= (p.Pro2518=)
c.5451T= (p.Pro1817=)
n.8401T=
c.8037T= (p.Pro2679=)
c.7233T= (p.Pro2411=)
c.7038T= (p.Pro2346=)
n.8395T=
n.8341T=
n.8450T=
5g.37153887A>CCA444096721CPLANE1n.1225T>G
c.8226T>G (p.Pro2742=)
c.8064T>G (p.Pro2688=)
c.5238T>G (p.Pro1746=)
n.468T>G
n.517T>G
c.1340T>G
c.5262T>G (p.Pro1754=)
c.8223T>G (p.Pro2741=)
c.8115T>G (p.Pro2705=)
c.8097T>G (p.Pro2699=)
c.4869T>G (p.Pro1623=)
c.2799T>G (p.Pro933=)
c.8172T>G (p.Pro2724=)
c.8118T>G (p.Pro2706=)
c.7908T>G (p.Pro2636=)
c.7554T>G (p.Pro2518=)
c.5451T>G (p.Pro1817=)
n.8401T>G
c.8037T>G (p.Pro2679=)
c.7233T>G (p.Pro2411=)
c.7038T>G (p.Pro2346=)
n.8395T>G
n.8341T>G
n.8450T>G
5g.37153887A>GCA444096723CPLANE1n.1225T>C
c.8226T>C (p.Pro2742=)
c.8064T>C (p.Pro2688=)
c.5238T>C (p.Pro1746=)
n.468T>C
n.517T>C
c.1340T>C
c.5262T>C (p.Pro1754=)
c.8223T>C (p.Pro2741=)
c.8115T>C (p.Pro2705=)
c.8097T>C (p.Pro2699=)
c.4869T>C (p.Pro1623=)
c.2799T>C (p.Pro933=)
c.8172T>C (p.Pro2724=)
c.8118T>C (p.Pro2706=)
c.7908T>C (p.Pro2636=)
c.7554T>C (p.Pro2518=)
c.5451T>C (p.Pro1817=)
n.8401T>C
c.8037T>C (p.Pro2679=)
c.7233T>C (p.Pro2411=)
c.7038T>C (p.Pro2346=)
n.8395T>C
n.8341T>C
n.8450T>C
 dbSNP
5g.37153887A>TCA444096722CPLANE1n.1225T>A
c.8226T>A (p.Pro2742=)
c.8064T>A (p.Pro2688=)
c.5238T>A (p.Pro1746=)
n.468T>A
n.517T>A
c.1340T>A
c.5262T>A (p.Pro1754=)
c.8223T>A (p.Pro2741=)
c.8115T>A (p.Pro2705=)
c.8097T>A (p.Pro2699=)
c.4869T>A (p.Pro1623=)
c.2799T>A (p.Pro933=)
c.8172T>A (p.Pro2724=)
c.8118T>A (p.Pro2706=)
c.7908T>A (p.Pro2636=)
c.7554T>A (p.Pro2518=)
c.5451T>A (p.Pro1817=)
n.8401T>A
c.8037T>A (p.Pro2679=)
c.7233T>A (p.Pro2411=)
c.7038T>A (p.Pro2346=)
n.8395T>A
n.8341T>A
n.8450T>A
5g.37153888G>ACA359474066CPLANE1n.1224C>T
c.8225C>T (p.Pro2742Leu)
c.8063C>T (p.Pro2688Leu)
c.5237C>T (p.Pro1746Leu)
n.467C>T
n.516C>T
c.1339C>T
c.5261C>T (p.Pro1754Leu)
c.8222C>T (p.Pro2741Leu)
c.8114C>T (p.Pro2705Leu)
c.8096C>T (p.Pro2699Leu)
c.4868C>T (p.Pro1623Leu)
c.2798C>T (p.Pro933Leu)
c.8171C>T (p.Pro2724Leu)
c.8117C>T (p.Pro2706Leu)
c.7907C>T (p.Pro2636Leu)
c.7553C>T (p.Pro2518Leu)
c.5450C>T (p.Pro1817Leu)
n.8400C>T
c.8036C>T (p.Pro2679Leu)
c.7232C>T (p.Pro2411Leu)
c.7037C>T (p.Pro2346Leu)
n.8394C>T
n.8340C>T
n.8449C>T
 gnomAD v4
5g.37153888G>CCA359474068CPLANE1n.1224C>G
c.8225C>G (p.Pro2742Arg)
c.8063C>G (p.Pro2688Arg)
c.5237C>G (p.Pro1746Arg)
n.467C>G
n.516C>G
c.1339C>G
c.5261C>G (p.Pro1754Arg)
c.8222C>G (p.Pro2741Arg)
c.8114C>G (p.Pro2705Arg)
c.8096C>G (p.Pro2699Arg)
c.4868C>G (p.Pro1623Arg)
c.2798C>G (p.Pro933Arg)
c.8171C>G (p.Pro2724Arg)
c.8117C>G (p.Pro2706Arg)
c.7907C>G (p.Pro2636Arg)
c.7553C>G (p.Pro2518Arg)
c.5450C>G (p.Pro1817Arg)
n.8400C>G
c.8036C>G (p.Pro2679Arg)
c.7232C>G (p.Pro2411Arg)
c.7037C>G (p.Pro2346Arg)
n.8394C>G
n.8340C>G
n.8449C>G
5g.37153888G>TCA359474064CPLANE1n.1224C>A
c.8225C>A (p.Pro2742His)
c.8063C>A (p.Pro2688His)
c.5237C>A (p.Pro1746His)
n.467C>A
n.516C>A
c.1339C>A
c.5261C>A (p.Pro1754His)
c.8222C>A (p.Pro2741His)
c.8114C>A (p.Pro2705His)
c.8096C>A (p.Pro2699His)
c.4868C>A (p.Pro1623His)
c.2798C>A (p.Pro933His)
c.8171C>A (p.Pro2724His)
c.8117C>A (p.Pro2706His)
c.7907C>A (p.Pro2636His)
c.7553C>A (p.Pro2518His)
c.5450C>A (p.Pro1817His)
n.8400C>A
c.8036C>A (p.Pro2679His)
c.7232C>A (p.Pro2411His)
c.7037C>A (p.Pro2346His)
n.8394C>A
n.8340C>A
n.8449C>A
5g.37153890dupCA2673584241CPLANE1n.1224dup
c.8225dup (p.Ala2743CysfsTer15)
c.8063dup (p.Ala2689CysfsTer15)
c.5237dup (p.Ala1747CysfsTer15)
n.467dup
n.516dup
c.1339dup
c.5261dup (p.Ala1755CysfsTer15)
c.8222dup (p.Ala2742CysfsTer15)
c.8114dup (p.Ala2706CysfsTer15)
c.8096dup (p.Ala2700CysfsTer15)
c.4868dup (p.Ala1624CysfsTer15)
c.2798dup (p.Ala934CysfsTer15)
c.8171dup (p.Ala2725CysfsTer15)
c.8117dup (p.Ala2707CysfsTer15)
c.7907dup (p.Ala2637CysfsTer15)
c.7553dup (p.Ala2519CysfsTer15)
c.5450dup (p.Ala1818CysfsTer15)
n.8400dup
c.8036dup (p.Ala2680CysfsTer15)
c.7232dup (p.Ala2412CysfsTer15)
c.7037dup (p.Ala2347CysfsTer15)
n.8394dup
n.8340dup
n.8449dup
 gnomAD v4
5g.37153889G>ACA359474069CPLANE1n.1223C>T
c.8224C>T (p.Pro2742Ser)
c.8062C>T (p.Pro2688Ser)
c.5236C>T (p.Pro1746Ser)
n.466C>T
n.515C>T
c.1338C>T
c.5260C>T (p.Pro1754Ser)
c.8221C>T (p.Pro2741Ser)
c.8113C>T (p.Pro2705Ser)
c.8095C>T (p.Pro2699Ser)
c.4867C>T (p.Pro1623Ser)
c.2797C>T (p.Pro933Ser)
c.8170C>T (p.Pro2724Ser)
c.8116C>T (p.Pro2706Ser)
c.7906C>T (p.Pro2636Ser)
c.7552C>T (p.Pro2518Ser)
c.5449C>T (p.Pro1817Ser)
n.8399C>T
c.8035C>T (p.Pro2679Ser)
c.7231C>T (p.Pro2411Ser)
c.7036C>T (p.Pro2346Ser)
n.8393C>T
n.8339C>T
n.8448C>T
 COSMIC COSMIC
5g.37153889G>CCA359474070CPLANE1n.1223C>G
c.8224C>G (p.Pro2742Ala)
c.8062C>G (p.Pro2688Ala)
c.5236C>G (p.Pro1746Ala)
n.466C>G
n.515C>G
c.1338C>G
c.5260C>G (p.Pro1754Ala)
c.8221C>G (p.Pro2741Ala)
c.8113C>G (p.Pro2705Ala)
c.8095C>G (p.Pro2699Ala)
c.4867C>G (p.Pro1623Ala)
c.2797C>G (p.Pro933Ala)
c.8170C>G (p.Pro2724Ala)
c.8116C>G (p.Pro2706Ala)
c.7906C>G (p.Pro2636Ala)
c.7552C>G (p.Pro2518Ala)
c.5449C>G (p.Pro1817Ala)
n.8399C>G
c.8035C>G (p.Pro2679Ala)
c.7231C>G (p.Pro2411Ala)
c.7036C>G (p.Pro2346Ala)
n.8393C>G
n.8339C>G
n.8448C>G
 ClinVar
5g.37153889G>TCA359474072CPLANE1n.1223C>A
c.8224C>A (p.Pro2742Thr)
c.8062C>A (p.Pro2688Thr)
c.5236C>A (p.Pro1746Thr)
n.466C>A
n.515C>A
c.1338C>A
c.5260C>A (p.Pro1754Thr)
c.8221C>A (p.Pro2741Thr)
c.8113C>A (p.Pro2705Thr)
c.8095C>A (p.Pro2699Thr)
c.4867C>A (p.Pro1623Thr)
c.2797C>A (p.Pro933Thr)
c.8170C>A (p.Pro2724Thr)
c.8116C>A (p.Pro2706Thr)
c.7906C>A (p.Pro2636Thr)
c.7552C>A (p.Pro2518Thr)
c.5449C>A (p.Pro1817Thr)
n.8399C>A
c.8035C>A (p.Pro2679Thr)
c.7231C>A (p.Pro2411Thr)
c.7036C>A (p.Pro2346Thr)
n.8393C>A
n.8339C>A
n.8448C>A
5g.37153890G>ACA444096724CPLANE1n.1222C>T
c.8223C>T (p.Cys2741=)
c.8061C>T (p.Cys2687=)
c.5235C>T (p.Cys1745=)
n.465C>T
n.514C>T
c.1337C>T
c.5259C>T (p.Cys1753=)
c.8220C>T (p.Cys2740=)
c.8112C>T (p.Cys2704=)
c.8094C>T (p.Cys2698=)
c.4866C>T (p.Cys1622=)
c.2796C>T (p.Cys932=)
c.8169C>T (p.Cys2723=)
c.8115C>T (p.Cys2705=)
c.7905C>T (p.Cys2635=)
c.7551C>T (p.Cys2517=)
c.5448C>T (p.Cys1816=)
n.8398C>T
c.8034C>T (p.Cys2678=)
c.7230C>T (p.Cys2410=)
c.7035C>T (p.Cys2345=)
n.8392C>T
n.8338C>T
n.8447C>T
 dbSNP gnomAD v2 gnomAD v4
5g.37153890G>CCA359474074CPLANE1n.1222C>G
c.8223C>G (p.Cys2741Trp)
c.8061C>G (p.Cys2687Trp)
c.5235C>G (p.Cys1745Trp)
n.465C>G
n.514C>G
c.1337C>G
c.5259C>G (p.Cys1753Trp)
c.8220C>G (p.Cys2740Trp)
c.8112C>G (p.Cys2704Trp)
c.8094C>G (p.Cys2698Trp)
c.4866C>G (p.Cys1622Trp)
c.2796C>G (p.Cys932Trp)
c.8169C>G (p.Cys2723Trp)
c.8115C>G (p.Cys2705Trp)
c.7905C>G (p.Cys2635Trp)
c.7551C>G (p.Cys2517Trp)
c.5448C>G (p.Cys1816Trp)
n.8398C>G
c.8034C>G (p.Cys2678Trp)
c.7230C>G (p.Cys2410Trp)
c.7035C>G (p.Cys2345Trp)
n.8392C>G
n.8338C>G
n.8447C>G
5g.37153890G=CA1539651272CPLANE1n.1222C=
c.8223C= (p.Cys2741=)
c.8061C= (p.Cys2687=)
c.5235C= (p.Cys1745=)
n.465C=
n.514C=
c.1337C=
c.5259C= (p.Cys1753=)
c.8220C= (p.Cys2740=)
c.8112C= (p.Cys2704=)
c.8094C= (p.Cys2698=)
c.4866C= (p.Cys1622=)
c.2796C= (p.Cys932=)
c.8169C= (p.Cys2723=)
c.8115C= (p.Cys2705=)
c.7905C= (p.Cys2635=)
c.7551C= (p.Cys2517=)
c.5448C= (p.Cys1816=)
n.8398C=
c.8034C= (p.Cys2678=)
c.7230C= (p.Cys2410=)
c.7035C= (p.Cys2345=)
n.8392C=
n.8338C=
n.8447C=
5g.37153890G>TCA359474076CPLANE1n.1222C>A
c.8223C>A (p.Cys2741Ter)
c.8061C>A (p.Cys2687Ter)
c.5235C>A (p.Cys1745Ter)
n.465C>A
n.514C>A
c.1337C>A
c.5259C>A (p.Cys1753Ter)
c.8220C>A (p.Cys2740Ter)
c.8112C>A (p.Cys2704Ter)
c.8094C>A (p.Cys2698Ter)
c.4866C>A (p.Cys1622Ter)
c.2796C>A (p.Cys932Ter)
c.8169C>A (p.Cys2723Ter)
c.8115C>A (p.Cys2705Ter)
c.7905C>A (p.Cys2635Ter)
c.7551C>A (p.Cys2517Ter)
c.5448C>A (p.Cys1816Ter)
n.8398C>A
c.8034C>A (p.Cys2678Ter)
c.7230C>A (p.Cys2410Ter)
c.7035C>A (p.Cys2345Ter)
n.8392C>A
n.8338C>A
n.8447C>A
5g.37153891C>ACA359474077CPLANE1n.1221G>T
c.8222G>T (p.Cys2741Phe)
c.8060G>T (p.Cys2687Phe)
c.5234G>T (p.Cys1745Phe)
n.464G>T
n.513G>T
c.1336G>T
c.5258G>T (p.Cys1753Phe)
c.8219G>T (p.Cys2740Phe)
c.8111G>T (p.Cys2704Phe)
c.8093G>T (p.Cys2698Phe)
c.4865G>T (p.Cys1622Phe)
c.2795G>T (p.Cys932Phe)
c.8168G>T (p.Cys2723Phe)
c.8114G>T (p.Cys2705Phe)
c.7904G>T (p.Cys2635Phe)
c.7550G>T (p.Cys2517Phe)
c.5447G>T (p.Cys1816Phe)
n.8397G>T
c.8033G>T (p.Cys2678Phe)
c.7229G>T (p.Cys2410Phe)
c.7034G>T (p.Cys2345Phe)
n.8391G>T
n.8337G>T
n.8446G>T
 dbSNP gnomAD v2 gnomAD v4
5g.37153891C=CA1539651278CPLANE1n.1221G=
c.8222G= (p.Cys2741=)
c.8060G= (p.Cys2687=)
c.5234G= (p.Cys1745=)
n.464G=
n.513G=
c.1336G=
c.5258G= (p.Cys1753=)
c.8219G= (p.Cys2740=)
c.8111G= (p.Cys2704=)
c.8093G= (p.Cys2698=)
c.4865G= (p.Cys1622=)
c.2795G= (p.Cys932=)
c.8168G= (p.Cys2723=)
c.8114G= (p.Cys2705=)
c.7904G= (p.Cys2635=)
c.7550G= (p.Cys2517=)
c.5447G= (p.Cys1816=)
n.8397G=
c.8033G= (p.Cys2678=)
c.7229G= (p.Cys2410=)
c.7034G= (p.Cys2345=)
n.8391G=
n.8337G=
n.8446G=
5g.37153891C>GCA359474078CPLANE1n.1221G>C
c.8222G>C (p.Cys2741Ser)
c.8060G>C (p.Cys2687Ser)
c.5234G>C (p.Cys1745Ser)
n.464G>C
n.513G>C
c.1336G>C
c.5258G>C (p.Cys1753Ser)
c.8219G>C (p.Cys2740Ser)
c.8111G>C (p.Cys2704Ser)
c.8093G>C (p.Cys2698Ser)
c.4865G>C (p.Cys1622Ser)
c.2795G>C (p.Cys932Ser)
c.8168G>C (p.Cys2723Ser)
c.8114G>C (p.Cys2705Ser)
c.7904G>C (p.Cys2635Ser)
c.7550G>C (p.Cys2517Ser)
c.5447G>C (p.Cys1816Ser)
n.8397G>C
c.8033G>C (p.Cys2678Ser)
c.7229G>C (p.Cys2410Ser)
c.7034G>C (p.Cys2345Ser)
n.8391G>C
n.8337G>C
n.8446G>C
5g.37153891C>TCA359474080CPLANE1n.1221G>A
c.8222G>A (p.Cys2741Tyr)
c.8060G>A (p.Cys2687Tyr)
c.5234G>A (p.Cys1745Tyr)
n.464G>A
n.513G>A
c.1336G>A
c.5258G>A (p.Cys1753Tyr)
c.8219G>A (p.Cys2740Tyr)
c.8111G>A (p.Cys2704Tyr)
c.8093G>A (p.Cys2698Tyr)
c.4865G>A (p.Cys1622Tyr)
c.2795G>A (p.Cys932Tyr)
c.8168G>A (p.Cys2723Tyr)
c.8114G>A (p.Cys2705Tyr)
c.7904G>A (p.Cys2635Tyr)
c.7550G>A (p.Cys2517Tyr)
c.5447G>A (p.Cys1816Tyr)
n.8397G>A
c.8033G>A (p.Cys2678Tyr)
c.7229G>A (p.Cys2410Tyr)
c.7034G>A (p.Cys2345Tyr)
n.8391G>A
n.8337G>A
n.8446G>A
 dbSNP
5g.37153892A>CCA359474082CPLANE1n.1220T>G
c.8221T>G (p.Cys2741Gly)
c.8059T>G (p.Cys2687Gly)
c.5233T>G (p.Cys1745Gly)
n.463T>G
n.512T>G
c.1335T>G
c.5257T>G (p.Cys1753Gly)
c.8218T>G (p.Cys2740Gly)
c.8110T>G (p.Cys2704Gly)
c.8092T>G (p.Cys2698Gly)
c.4864T>G (p.Cys1622Gly)
c.2794T>G (p.Cys932Gly)
c.8167T>G (p.Cys2723Gly)
c.8113T>G (p.Cys2705Gly)
c.7903T>G (p.Cys2635Gly)
c.7549T>G (p.Cys2517Gly)
c.5446T>G (p.Cys1816Gly)
n.8396T>G
c.8032T>G (p.Cys2678Gly)
c.7228T>G (p.Cys2410Gly)
c.7033T>G (p.Cys2345Gly)
n.8390T>G
n.8336T>G
n.8445T>G
5g.37153892A>GCA359474084CPLANE1n.1220T>C
c.8221T>C (p.Cys2741Arg)
c.8059T>C (p.Cys2687Arg)
c.5233T>C (p.Cys1745Arg)
n.463T>C
n.512T>C
c.1335T>C
c.5257T>C (p.Cys1753Arg)
c.8218T>C (p.Cys2740Arg)
c.8110T>C (p.Cys2704Arg)
c.8092T>C (p.Cys2698Arg)
c.4864T>C (p.Cys1622Arg)
c.2794T>C (p.Cys932Arg)
c.8167T>C (p.Cys2723Arg)
c.8113T>C (p.Cys2705Arg)
c.7903T>C (p.Cys2635Arg)
c.7549T>C (p.Cys2517Arg)
c.5446T>C (p.Cys1816Arg)
n.8396T>C
c.8032T>C (p.Cys2678Arg)
c.7228T>C (p.Cys2410Arg)
c.7033T>C (p.Cys2345Arg)
n.8390T>C
n.8336T>C
n.8445T>C
5g.37153892A>TCA359474085CPLANE1n.1220T>A
c.8221T>A (p.Cys2741Ser)
c.8059T>A (p.Cys2687Ser)
c.5233T>A (p.Cys1745Ser)
n.463T>A
n.512T>A
c.1335T>A
c.5257T>A (p.Cys1753Ser)
c.8218T>A (p.Cys2740Ser)
c.8110T>A (p.Cys2704Ser)
c.8092T>A (p.Cys2698Ser)
c.4864T>A (p.Cys1622Ser)
c.2794T>A (p.Cys932Ser)
c.8167T>A (p.Cys2723Ser)
c.8113T>A (p.Cys2705Ser)
c.7903T>A (p.Cys2635Ser)
c.7549T>A (p.Cys2517Ser)
c.5446T>A (p.Cys1816Ser)
n.8396T>A
c.8032T>A (p.Cys2678Ser)
c.7228T>A (p.Cys2410Ser)
c.7033T>A (p.Cys2345Ser)
n.8390T>A
n.8336T>A
n.8445T>A
5g.37153893A>CCA444096725CPLANE1n.1219T>G
c.8220T>G (p.Ala2740=)
c.8058T>G (p.Ala2686=)
c.5232T>G (p.Ala1744=)
n.462T>G
n.511T>G
c.1334T>G
c.5256T>G (p.Ala1752=)
c.8217T>G (p.Ala2739=)
c.8109T>G (p.Ala2703=)
c.8091T>G (p.Ala2697=)
c.4863T>G (p.Ala1621=)
c.2793T>G (p.Ala931=)
c.8166T>G (p.Ala2722=)
c.8112T>G (p.Ala2704=)
c.7902T>G (p.Ala2634=)
c.7548T>G (p.Ala2516=)
c.5445T>G (p.Ala1815=)
n.8395T>G
c.8031T>G (p.Ala2677=)
c.7227T>G (p.Ala2409=)
c.7032T>G (p.Ala2344=)
n.8389T>G
n.8335T>G
n.8444T>G
5g.37153893A>GCA444096727CPLANE1n.1219T>C
c.8220T>C (p.Ala2740=)
c.8058T>C (p.Ala2686=)
c.5232T>C (p.Ala1744=)
n.462T>C
n.511T>C
c.1334T>C
c.5256T>C (p.Ala1752=)
c.8217T>C (p.Ala2739=)
c.8109T>C (p.Ala2703=)
c.8091T>C (p.Ala2697=)
c.4863T>C (p.Ala1621=)
c.2793T>C (p.Ala931=)
c.8166T>C (p.Ala2722=)
c.8112T>C (p.Ala2704=)
c.7902T>C (p.Ala2634=)
c.7548T>C (p.Ala2516=)
c.5445T>C (p.Ala1815=)
n.8395T>C
c.8031T>C (p.Ala2677=)
c.7227T>C (p.Ala2409=)
c.7032T>C (p.Ala2344=)
n.8389T>C
n.8335T>C
n.8444T>C
5g.37153893A>TCA444096726CPLANE1n.1219T>A
c.8220T>A (p.Ala2740=)
c.8058T>A (p.Ala2686=)
c.5232T>A (p.Ala1744=)
n.462T>A
n.511T>A
c.1334T>A
c.5256T>A (p.Ala1752=)
c.8217T>A (p.Ala2739=)
c.8109T>A (p.Ala2703=)
c.8091T>A (p.Ala2697=)
c.4863T>A (p.Ala1621=)
c.2793T>A (p.Ala931=)
c.8166T>A (p.Ala2722=)
c.8112T>A (p.Ala2704=)
c.7902T>A (p.Ala2634=)
c.7548T>A (p.Ala2516=)
c.5445T>A (p.Ala1815=)
n.8395T>A
c.8031T>A (p.Ala2677=)
c.7227T>A (p.Ala2409=)
c.7032T>A (p.Ala2344=)
n.8389T>A
n.8335T>A
n.8444T>A
 gnomAD v4
5g.37153894G>ACA359474088CPLANE1n.1218C>T
c.8219C>T (p.Ala2740Val)
c.8057C>T (p.Ala2686Val)
c.5231C>T (p.Ala1744Val)
n.461C>T
n.510C>T
c.1333C>T
c.5255C>T (p.Ala1752Val)
c.8216C>T (p.Ala2739Val)
c.8108C>T (p.Ala2703Val)
c.8090C>T (p.Ala2697Val)
c.4862C>T (p.Ala1621Val)
c.2792C>T (p.Ala931Val)
c.8165C>T (p.Ala2722Val)
c.8111C>T (p.Ala2704Val)
c.7901C>T (p.Ala2634Val)
c.7547C>T (p.Ala2516Val)
c.5444C>T (p.Ala1815Val)
n.8394C>T
c.8030C>T (p.Ala2677Val)
c.7226C>T (p.Ala2409Val)
c.7031C>T (p.Ala2344Val)
n.8388C>T
n.8334C>T
n.8443C>T
5g.37153894G>CCA359474090CPLANE1n.1218C>G
c.8219C>G (p.Ala2740Gly)
c.8057C>G (p.Ala2686Gly)
c.5231C>G (p.Ala1744Gly)
n.461C>G
n.510C>G
c.1333C>G
c.5255C>G (p.Ala1752Gly)
c.8216C>G (p.Ala2739Gly)
c.8108C>G (p.Ala2703Gly)
c.8090C>G (p.Ala2697Gly)
c.4862C>G (p.Ala1621Gly)
c.2792C>G (p.Ala931Gly)
c.8165C>G (p.Ala2722Gly)
c.8111C>G (p.Ala2704Gly)
c.7901C>G (p.Ala2634Gly)
c.7547C>G (p.Ala2516Gly)
c.5444C>G (p.Ala1815Gly)
n.8394C>G
c.8030C>G (p.Ala2677Gly)
c.7226C>G (p.Ala2409Gly)
c.7031C>G (p.Ala2344Gly)
n.8388C>G
n.8334C>G
n.8443C>G
5g.37153894G>TCA359474087CPLANE1n.1218C>A
c.8219C>A (p.Ala2740Asp)
c.8057C>A (p.Ala2686Asp)
c.5231C>A (p.Ala1744Asp)
n.461C>A
n.510C>A
c.1333C>A
c.5255C>A (p.Ala1752Asp)
c.8216C>A (p.Ala2739Asp)
c.8108C>A (p.Ala2703Asp)
c.8090C>A (p.Ala2697Asp)
c.4862C>A (p.Ala1621Asp)
c.2792C>A (p.Ala931Asp)
c.8165C>A (p.Ala2722Asp)
c.8111C>A (p.Ala2704Asp)
c.7901C>A (p.Ala2634Asp)
c.7547C>A (p.Ala2516Asp)
c.5444C>A (p.Ala1815Asp)
n.8394C>A
c.8030C>A (p.Ala2677Asp)
c.7226C>A (p.Ala2409Asp)
c.7031C>A (p.Ala2344Asp)
n.8388C>A
n.8334C>A
n.8443C>A
5g.37153895C>ACA359474091CPLANE1n.1217G>T
c.8218G>T (p.Ala2740Ser)
c.8056G>T (p.Ala2686Ser)
c.5230G>T (p.Ala1744Ser)
n.460G>T
n.509G>T
c.1332G>T
c.5254G>T (p.Ala1752Ser)
c.8215G>T (p.Ala2739Ser)
c.8107G>T (p.Ala2703Ser)
c.8089G>T (p.Ala2697Ser)
c.4861G>T (p.Ala1621Ser)
c.2791G>T (p.Ala931Ser)
c.8164G>T (p.Ala2722Ser)
c.8110G>T (p.Ala2704Ser)
c.7900G>T (p.Ala2634Ser)
c.7546G>T (p.Ala2516Ser)
c.5443G>T (p.Ala1815Ser)
n.8393G>T
c.8029G>T (p.Ala2677Ser)
c.7225G>T (p.Ala2409Ser)
c.7030G>T (p.Ala2344Ser)
n.8387G>T
n.8333G>T
n.8442G>T
5g.37153895C>GCA359474093CPLANE1n.1217G>C
c.8218G>C (p.Ala2740Pro)
c.8056G>C (p.Ala2686Pro)
c.5230G>C (p.Ala1744Pro)
n.460G>C
n.509G>C
c.1332G>C
c.5254G>C (p.Ala1752Pro)
c.8215G>C (p.Ala2739Pro)
c.8107G>C (p.Ala2703Pro)
c.8089G>C (p.Ala2697Pro)
c.4861G>C (p.Ala1621Pro)
c.2791G>C (p.Ala931Pro)
c.8164G>C (p.Ala2722Pro)
c.8110G>C (p.Ala2704Pro)
c.7900G>C (p.Ala2634Pro)
c.7546G>C (p.Ala2516Pro)
c.5443G>C (p.Ala1815Pro)
n.8393G>C
c.8029G>C (p.Ala2677Pro)
c.7225G>C (p.Ala2409Pro)
c.7030G>C (p.Ala2344Pro)
n.8387G>C
n.8333G>C
n.8442G>C
5g.37153895C>TCA359474095CPLANE1n.1217G>A
c.8218G>A (p.Ala2740Thr)
c.8056G>A (p.Ala2686Thr)
c.5230G>A (p.Ala1744Thr)
n.460G>A
n.509G>A
c.1332G>A
c.5254G>A (p.Ala1752Thr)
c.8215G>A (p.Ala2739Thr)
c.8107G>A (p.Ala2703Thr)
c.8089G>A (p.Ala2697Thr)
c.4861G>A (p.Ala1621Thr)
c.2791G>A (p.Ala931Thr)
c.8164G>A (p.Ala2722Thr)
c.8110G>A (p.Ala2704Thr)
c.7900G>A (p.Ala2634Thr)
c.7546G>A (p.Ala2516Thr)
c.5443G>A (p.Ala1815Thr)
n.8393G>A
c.8029G>A (p.Ala2677Thr)
c.7225G>A (p.Ala2409Thr)
c.7030G>A (p.Ala2344Thr)
n.8387G>A
n.8333G>A
n.8442G>A
5g.37153896T>ACA444096728CPLANE1n.1216A>T
c.8217A>T (p.Ala2739=)
c.8055A>T (p.Ala2685=)
c.5229A>T (p.Ala1743=)
n.459A>T
n.508A>T
c.1331A>T
c.5253A>T (p.Ala1751=)
c.8214A>T (p.Ala2738=)
c.8106A>T (p.Ala2702=)
c.8088A>T (p.Ala2696=)
c.4860A>T (p.Ala1620=)
c.2790A>T (p.Ala930=)
c.8163A>T (p.Ala2721=)
c.8109A>T (p.Ala2703=)
c.7899A>T (p.Ala2633=)
c.7545A>T (p.Ala2515=)
c.5442A>T (p.Ala1814=)
n.8392A>T
c.8028A>T (p.Ala2676=)
c.7224A>T (p.Ala2408=)
c.7029A>T (p.Ala2343=)
n.8386A>T
n.8332A>T
n.8441A>T
5g.37153896T>CCA444096729CPLANE1n.1216A>G
c.8217A>G (p.Ala2739=)
c.8055A>G (p.Ala2685=)
c.5229A>G (p.Ala1743=)
n.459A>G
n.508A>G
c.1331A>G
c.5253A>G (p.Ala1751=)
c.8214A>G (p.Ala2738=)
c.8106A>G (p.Ala2702=)
c.8088A>G (p.Ala2696=)
c.4860A>G (p.Ala1620=)
c.2790A>G (p.Ala930=)
c.8163A>G (p.Ala2721=)
c.8109A>G (p.Ala2703=)
c.7899A>G (p.Ala2633=)
c.7545A>G (p.Ala2515=)
c.5442A>G (p.Ala1814=)
n.8392A>G
c.8028A>G (p.Ala2676=)
c.7224A>G (p.Ala2408=)
c.7029A>G (p.Ala2343=)
n.8386A>G
n.8332A>G
n.8441A>G
5g.37153896T>GCA444096730CPLANE1n.1216A>C
c.8217A>C (p.Ala2739=)
c.8055A>C (p.Ala2685=)
c.5229A>C (p.Ala1743=)
n.459A>C
n.508A>C
c.1331A>C
c.5253A>C (p.Ala1751=)
c.8214A>C (p.Ala2738=)
c.8106A>C (p.Ala2702=)
c.8088A>C (p.Ala2696=)
c.4860A>C (p.Ala1620=)
c.2790A>C (p.Ala930=)
c.8163A>C (p.Ala2721=)
c.8109A>C (p.Ala2703=)
c.7899A>C (p.Ala2633=)
c.7545A>C (p.Ala2515=)
c.5442A>C (p.Ala1814=)
n.8392A>C
c.8028A>C (p.Ala2676=)
c.7224A>C (p.Ala2408=)
c.7029A>C (p.Ala2343=)
n.8386A>C
n.8332A>C
n.8441A>C
 gnomAD v4
5g.37153897G>ACA359474096CPLANE1n.1215C>T
c.8216C>T (p.Ala2739Val)
c.8054C>T (p.Ala2685Val)
c.5228C>T (p.Ala1743Val)
n.458C>T
n.507C>T
c.1330C>T
c.5252C>T (p.Ala1751Val)
c.8213C>T (p.Ala2738Val)
c.8105C>T (p.Ala2702Val)
c.8087C>T (p.Ala2696Val)
c.4859C>T (p.Ala1620Val)
c.2789C>T (p.Ala930Val)
c.8162C>T (p.Ala2721Val)
c.8108C>T (p.Ala2703Val)
c.7898C>T (p.Ala2633Val)
c.7544C>T (p.Ala2515Val)
c.5441C>T (p.Ala1814Val)
n.8391C>T
c.8027C>T (p.Ala2676Val)
c.7223C>T (p.Ala2408Val)
c.7028C>T (p.Ala2343Val)
n.8385C>T
n.8331C>T
n.8440C>T
 gnomAD v4
5g.37153897G>CCA359474098CPLANE1n.1215C>G
c.8216C>G (p.Ala2739Gly)
c.8054C>G (p.Ala2685Gly)
c.5228C>G (p.Ala1743Gly)
n.458C>G
n.507C>G
c.1330C>G
c.5252C>G (p.Ala1751Gly)
c.8213C>G (p.Ala2738Gly)
c.8105C>G (p.Ala2702Gly)
c.8087C>G (p.Ala2696Gly)
c.4859C>G (p.Ala1620Gly)
c.2789C>G (p.Ala930Gly)
c.8162C>G (p.Ala2721Gly)
c.8108C>G (p.Ala2703Gly)
c.7898C>G (p.Ala2633Gly)
c.7544C>G (p.Ala2515Gly)
c.5441C>G (p.Ala1814Gly)
n.8391C>G
c.8027C>G (p.Ala2676Gly)
c.7223C>G (p.Ala2408Gly)
c.7028C>G (p.Ala2343Gly)
n.8385C>G
n.8331C>G
n.8440C>G
5g.37153897G=CA1539651285CPLANE1n.1215C=
c.8216C= (p.Ala2739=)
c.8054C= (p.Ala2685=)
c.5228C= (p.Ala1743=)
n.458C=
n.507C=
c.1330C=
c.5252C= (p.Ala1751=)
c.8213C= (p.Ala2738=)
c.8105C= (p.Ala2702=)
c.8087C= (p.Ala2696=)
c.4859C= (p.Ala1620=)
c.2789C= (p.Ala930=)
c.8162C= (p.Ala2721=)
c.8108C= (p.Ala2703=)
c.7898C= (p.Ala2633=)
c.7544C= (p.Ala2515=)
c.5441C= (p.Ala1814=)
n.8391C=
c.8027C= (p.Ala2676=)
c.7223C= (p.Ala2408=)
c.7028C= (p.Ala2343=)
n.8385C=
n.8331C=
n.8440C=
5g.37153897G>TCA359474100CPLANE1n.1215C>A
c.8216C>A (p.Ala2739Glu)
c.8054C>A (p.Ala2685Glu)
c.5228C>A (p.Ala1743Glu)
n.458C>A
n.507C>A
c.1330C>A
c.5252C>A (p.Ala1751Glu)
c.8213C>A (p.Ala2738Glu)
c.8105C>A (p.Ala2702Glu)
c.8087C>A (p.Ala2696Glu)
c.4859C>A (p.Ala1620Glu)
c.2789C>A (p.Ala930Glu)
c.8162C>A (p.Ala2721Glu)
c.8108C>A (p.Ala2703Glu)
c.7898C>A (p.Ala2633Glu)
c.7544C>A (p.Ala2515Glu)
c.5441C>A (p.Ala1814Glu)
n.8391C>A
c.8027C>A (p.Ala2676Glu)
c.7223C>A (p.Ala2408Glu)
c.7028C>A (p.Ala2343Glu)
n.8385C>A
n.8331C>A
n.8440C>A
 dbSNP gnomAD v2 gnomAD v4
5g.37153898C>ACA359474106CPLANE1n.1214G>T
c.8215G>T (p.Ala2739Ser)
c.8053G>T (p.Ala2685Ser)
c.5227G>T (p.Ala1743Ser)
n.457G>T
n.506G>T
c.1329G>T
c.5251G>T (p.Ala1751Ser)
c.8212G>T (p.Ala2738Ser)
c.8104G>T (p.Ala2702Ser)
c.8086G>T (p.Ala2696Ser)
c.4858G>T (p.Ala1620Ser)
c.2788G>T (p.Ala930Ser)
c.8161G>T (p.Ala2721Ser)
c.8107G>T (p.Ala2703Ser)
c.7897G>T (p.Ala2633Ser)
c.7543G>T (p.Ala2515Ser)
c.5440G>T (p.Ala1814Ser)
n.8390G>T
c.8026G>T (p.Ala2676Ser)
c.7222G>T (p.Ala2408Ser)
c.7027G>T (p.Ala2343Ser)
n.8384G>T
n.8330G>T
n.8439G>T
5g.37153898C>GCA359474104CPLANE1n.1214G>C
c.8215G>C (p.Ala2739Pro)
c.8053G>C (p.Ala2685Pro)
c.5227G>C (p.Ala1743Pro)
n.457G>C
n.506G>C
c.1329G>C
c.5251G>C (p.Ala1751Pro)
c.8212G>C (p.Ala2738Pro)
c.8104G>C (p.Ala2702Pro)
c.8086G>C (p.Ala2696Pro)
c.4858G>C (p.Ala1620Pro)
c.2788G>C (p.Ala930Pro)
c.8161G>C (p.Ala2721Pro)
c.8107G>C (p.Ala2703Pro)
c.7897G>C (p.Ala2633Pro)
c.7543G>C (p.Ala2515Pro)
c.5440G>C (p.Ala1814Pro)
n.8390G>C
c.8026G>C (p.Ala2676Pro)
c.7222G>C (p.Ala2408Pro)
c.7027G>C (p.Ala2343Pro)
n.8384G>C
n.8330G>C
n.8439G>C
5g.37153898C>TCA359474102CPLANE1n.1214G>A
c.8215G>A (p.Ala2739Thr)
c.8053G>A (p.Ala2685Thr)
c.5227G>A (p.Ala1743Thr)
n.457G>A
n.506G>A
c.1329G>A
c.5251G>A (p.Ala1751Thr)
c.8212G>A (p.Ala2738Thr)
c.8104G>A (p.Ala2702Thr)
c.8086G>A (p.Ala2696Thr)
c.4858G>A (p.Ala1620Thr)
c.2788G>A (p.Ala930Thr)
c.8161G>A (p.Ala2721Thr)
c.8107G>A (p.Ala2703Thr)
c.7897G>A (p.Ala2633Thr)
c.7543G>A (p.Ala2515Thr)
c.5440G>A (p.Ala1814Thr)
n.8390G>A
c.8026G>A (p.Ala2676Thr)
c.7222G>A (p.Ala2408Thr)
c.7027G>A (p.Ala2343Thr)
n.8384G>A
n.8330G>A
n.8439G>A
5g.37153900_37153905dupCA3237842CPLANE1n.1209_1214dup
c.8210_8215dup (p.Ser2738_Ala2739insValSer)
c.8048_8053dup (p.Ser2684_Ala2685insValSer)
c.5222_5227dup (p.Ser1742_Ala1743insValSer)
n.452_457dup
n.501_506dup
c.1324_1329dup
c.5246_5251dup (p.Ser1750_Ala1751insValSer)
c.8207_8212dup (p.Ser2737_Ala2738insValSer)
c.8099_8104dup (p.Ser2701_Ala2702insValSer)
c.8081_8086dup (p.Ser2695_Ala2696insValSer)
c.4853_4858dup (p.Ser1619_Ala1620insValSer)
c.2783_2788dup (p.Ser929_Ala930insValSer)
c.8156_8161dup (p.Ser2720_Ala2721insValSer)
c.8102_8107dup (p.Ser2702_Ala2703insValSer)
c.7892_7897dup (p.Ser2632_Ala2633insValSer)
c.7538_7543dup (p.Ser2514_Ala2515insValSer)
c.5435_5440dup (p.Ser1813_Ala1814insValSer)
n.8385_8390dup
c.8021_8026dup (p.Ser2675_Ala2676insValSer)
c.7217_7222dup (p.Ser2407_Ala2408insValSer)
c.7022_7027dup (p.Ser2342_Ala2343insValSer)
n.8379_8384dup
n.8325_8330dup
n.8434_8439dup
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37153899A>CCA444096733CPLANE1n.1213T>G
c.8214T>G (p.Ser2738=)
c.8052T>G (p.Ser2684=)
c.5226T>G (p.Ser1742=)
n.456T>G
n.505T>G
c.1328T>G
c.5250T>G (p.Ser1750=)
c.8211T>G (p.Ser2737=)
c.8103T>G (p.Ser2701=)
c.8085T>G (p.Ser2695=)
c.4857T>G (p.Ser1619=)
c.2787T>G (p.Ser929=)
c.8160T>G (p.Ser2720=)
c.8106T>G (p.Ser2702=)
c.7896T>G (p.Ser2632=)
c.7542T>G (p.Ser2514=)
c.5439T>G (p.Ser1813=)
n.8389T>G
c.8025T>G (p.Ser2675=)
c.7221T>G (p.Ser2407=)
c.7026T>G (p.Ser2342=)
n.8383T>G
n.8329T>G
n.8438T>G
5g.37153899A>GCA444096731CPLANE1n.1213T>C
c.8214T>C (p.Ser2738=)
c.8052T>C (p.Ser2684=)
c.5226T>C (p.Ser1742=)
n.456T>C
n.505T>C
c.1328T>C
c.5250T>C (p.Ser1750=)
c.8211T>C (p.Ser2737=)
c.8103T>C (p.Ser2701=)
c.8085T>C (p.Ser2695=)
c.4857T>C (p.Ser1619=)
c.2787T>C (p.Ser929=)
c.8160T>C (p.Ser2720=)
c.8106T>C (p.Ser2702=)
c.7896T>C (p.Ser2632=)
c.7542T>C (p.Ser2514=)
c.5439T>C (p.Ser1813=)
n.8389T>C
c.8025T>C (p.Ser2675=)
c.7221T>C (p.Ser2407=)
c.7026T>C (p.Ser2342=)
n.8383T>C
n.8329T>C
n.8438T>C
5g.37153899A>TCA444096732CPLANE1n.1213T>A
c.8214T>A (p.Ser2738=)
c.8052T>A (p.Ser2684=)
c.5226T>A (p.Ser1742=)
n.456T>A
n.505T>A
c.1328T>A
c.5250T>A (p.Ser1750=)
c.8211T>A (p.Ser2737=)
c.8103T>A (p.Ser2701=)
c.8085T>A (p.Ser2695=)
c.4857T>A (p.Ser1619=)
c.2787T>A (p.Ser929=)
c.8160T>A (p.Ser2720=)
c.8106T>A (p.Ser2702=)
c.7896T>A (p.Ser2632=)
c.7542T>A (p.Ser2514=)
c.5439T>A (p.Ser1813=)
n.8389T>A
c.8025T>A (p.Ser2675=)
c.7221T>A (p.Ser2407=)
c.7026T>A (p.Ser2342=)
n.8383T>A
n.8329T>A
n.8438T>A
5g.37153900G>ACA359474108CPLANE1n.1212C>T
c.8213C>T (p.Ser2738Phe)
c.8051C>T (p.Ser2684Phe)
c.5225C>T (p.Ser1742Phe)
n.455C>T
n.504C>T
c.1327C>T
c.5249C>T (p.Ser1750Phe)
c.8210C>T (p.Ser2737Phe)
c.8102C>T (p.Ser2701Phe)
c.8084C>T (p.Ser2695Phe)
c.4856C>T (p.Ser1619Phe)
c.2786C>T (p.Ser929Phe)
c.8159C>T (p.Ser2720Phe)
c.8105C>T (p.Ser2702Phe)
c.7895C>T (p.Ser2632Phe)
c.7541C>T (p.Ser2514Phe)
c.5438C>T (p.Ser1813Phe)
n.8388C>T
c.8024C>T (p.Ser2675Phe)
c.7220C>T (p.Ser2407Phe)
c.7025C>T (p.Ser2342Phe)
n.8382C>T
n.8328C>T
n.8437C>T
5g.37153900G>CCA359474109CPLANE1n.1212C>G
c.8213C>G (p.Ser2738Cys)
c.8051C>G (p.Ser2684Cys)
c.5225C>G (p.Ser1742Cys)
n.455C>G
n.504C>G
c.1327C>G
c.5249C>G (p.Ser1750Cys)
c.8210C>G (p.Ser2737Cys)
c.8102C>G (p.Ser2701Cys)
c.8084C>G (p.Ser2695Cys)
c.4856C>G (p.Ser1619Cys)
c.2786C>G (p.Ser929Cys)
c.8159C>G (p.Ser2720Cys)
c.8105C>G (p.Ser2702Cys)
c.7895C>G (p.Ser2632Cys)
c.7541C>G (p.Ser2514Cys)
c.5438C>G (p.Ser1813Cys)
n.8388C>G
c.8024C>G (p.Ser2675Cys)
c.7220C>G (p.Ser2407Cys)
c.7025C>G (p.Ser2342Cys)
n.8382C>G
n.8328C>G
n.8437C>G
5g.37153900G>TCA359474111CPLANE1n.1212C>A
c.8213C>A (p.Ser2738Tyr)
c.8051C>A (p.Ser2684Tyr)
c.5225C>A (p.Ser1742Tyr)
n.455C>A
n.504C>A
c.1327C>A
c.5249C>A (p.Ser1750Tyr)
c.8210C>A (p.Ser2737Tyr)
c.8102C>A (p.Ser2701Tyr)
c.8084C>A (p.Ser2695Tyr)
c.4856C>A (p.Ser1619Tyr)
c.2786C>A (p.Ser929Tyr)
c.8159C>A (p.Ser2720Tyr)
c.8105C>A (p.Ser2702Tyr)
c.7895C>A (p.Ser2632Tyr)
c.7541C>A (p.Ser2514Tyr)
c.5438C>A (p.Ser1813Tyr)
n.8388C>A
c.8024C>A (p.Ser2675Tyr)
c.7220C>A (p.Ser2407Tyr)
c.7025C>A (p.Ser2342Tyr)
n.8382C>A
n.8328C>A
n.8437C>A
5g.37153901A>CCA359474116CPLANE1n.1211T>G
c.8212T>G (p.Ser2738Ala)
c.8050T>G (p.Ser2684Ala)
c.5224T>G (p.Ser1742Ala)
n.454T>G
n.503T>G
c.1326T>G
c.5248T>G (p.Ser1750Ala)
c.8209T>G (p.Ser2737Ala)
c.8101T>G (p.Ser2701Ala)
c.8083T>G (p.Ser2695Ala)
c.4855T>G (p.Ser1619Ala)
c.2785T>G (p.Ser929Ala)
c.8158T>G (p.Ser2720Ala)
c.8104T>G (p.Ser2702Ala)
c.7894T>G (p.Ser2632Ala)
c.7540T>G (p.Ser2514Ala)
c.5437T>G (p.Ser1813Ala)
n.8387T>G
c.8023T>G (p.Ser2675Ala)
c.7219T>G (p.Ser2407Ala)
c.7024T>G (p.Ser2342Ala)
n.8381T>G
n.8327T>G
n.8436T>G
5g.37153901A>GCA359474114CPLANE1n.1211T>C
c.8212T>C (p.Ser2738Pro)
c.8050T>C (p.Ser2684Pro)
c.5224T>C (p.Ser1742Pro)
n.454T>C
n.503T>C
c.1326T>C
c.5248T>C (p.Ser1750Pro)
c.8209T>C (p.Ser2737Pro)
c.8101T>C (p.Ser2701Pro)
c.8083T>C (p.Ser2695Pro)
c.4855T>C (p.Ser1619Pro)
c.2785T>C (p.Ser929Pro)
c.8158T>C (p.Ser2720Pro)
c.8104T>C (p.Ser2702Pro)
c.7894T>C (p.Ser2632Pro)
c.7540T>C (p.Ser2514Pro)
c.5437T>C (p.Ser1813Pro)
n.8387T>C
c.8023T>C (p.Ser2675Pro)
c.7219T>C (p.Ser2407Pro)
c.7024T>C (p.Ser2342Pro)
n.8381T>C
n.8327T>C
n.8436T>C
 dbSNP gnomAD v3 gnomAD v4
5g.37153901A>TCA359474113CPLANE1n.1211T>A
c.8212T>A (p.Ser2738Thr)
c.8050T>A (p.Ser2684Thr)
c.5224T>A (p.Ser1742Thr)
n.454T>A
n.503T>A
c.1326T>A
c.5248T>A (p.Ser1750Thr)
c.8209T>A (p.Ser2737Thr)
c.8101T>A (p.Ser2701Thr)
c.8083T>A (p.Ser2695Thr)
c.4855T>A (p.Ser1619Thr)
c.2785T>A (p.Ser929Thr)
c.8158T>A (p.Ser2720Thr)
c.8104T>A (p.Ser2702Thr)
c.7894T>A (p.Ser2632Thr)
c.7540T>A (p.Ser2514Thr)
c.5437T>A (p.Ser1813Thr)
n.8387T>A
c.8023T>A (p.Ser2675Thr)
c.7219T>A (p.Ser2407Thr)
c.7024T>A (p.Ser2342Thr)
n.8381T>A
n.8327T>A
n.8436T>A
5g.37153902G>ACA444096734CPLANE1n.1210C>T
c.8211C>T (p.Val2737=)
c.8049C>T (p.Val2683=)
c.5223C>T (p.Val1741=)
n.453C>T
n.502C>T
c.1325C>T
c.5247C>T (p.Val1749=)
c.8208C>T (p.Val2736=)
c.8100C>T (p.Val2700=)
c.8082C>T (p.Val2694=)
c.4854C>T (p.Val1618=)
c.2784C>T (p.Val928=)
c.8157C>T (p.Val2719=)
c.8103C>T (p.Val2701=)
c.7893C>T (p.Val2631=)
c.7539C>T (p.Val2513=)
c.5436C>T (p.Val1812=)
n.8386C>T
c.8022C>T (p.Val2674=)
c.7218C>T (p.Val2406=)
c.7023C>T (p.Val2341=)
n.8380C>T
n.8326C>T
n.8435C>T
 gnomAD v4
5g.37153902G>CCA444096735CPLANE1n.1210C>G
c.8211C>G (p.Val2737=)
c.8049C>G (p.Val2683=)
c.5223C>G (p.Val1741=)
n.453C>G
n.502C>G
c.1325C>G
c.5247C>G (p.Val1749=)
c.8208C>G (p.Val2736=)
c.8100C>G (p.Val2700=)
c.8082C>G (p.Val2694=)
c.4854C>G (p.Val1618=)
c.2784C>G (p.Val928=)
c.8157C>G (p.Val2719=)
c.8103C>G (p.Val2701=)
c.7893C>G (p.Val2631=)
c.7539C>G (p.Val2513=)
c.5436C>G (p.Val1812=)
n.8386C>G
c.8022C>G (p.Val2674=)
c.7218C>G (p.Val2406=)
c.7023C>G (p.Val2341=)
n.8380C>G
n.8326C>G
n.8435C>G
5g.37153902G>TCA444096736CPLANE1n.1210C>A
c.8211C>A (p.Val2737=)
c.8049C>A (p.Val2683=)
c.5223C>A (p.Val1741=)
n.453C>A
n.502C>A
c.1325C>A
c.5247C>A (p.Val1749=)
c.8208C>A (p.Val2736=)
c.8100C>A (p.Val2700=)
c.8082C>A (p.Val2694=)
c.4854C>A (p.Val1618=)
c.2784C>A (p.Val928=)
c.8157C>A (p.Val2719=)
c.8103C>A (p.Val2701=)
c.7893C>A (p.Val2631=)
c.7539C>A (p.Val2513=)
c.5436C>A (p.Val1812=)
n.8386C>A
c.8022C>A (p.Val2674=)
c.7218C>A (p.Val2406=)
c.7023C>A (p.Val2341=)
n.8380C>A
n.8326C>A
n.8435C>A
5g.37153903A>CCA359474118CPLANE1n.1209T>G
c.8210T>G (p.Val2737Gly)
c.8048T>G (p.Val2683Gly)
c.5222T>G (p.Val1741Gly)
n.452T>G
n.501T>G
c.1324T>G
c.5246T>G (p.Val1749Gly)
c.8207T>G (p.Val2736Gly)
c.8099T>G (p.Val2700Gly)
c.8081T>G (p.Val2694Gly)
c.4853T>G (p.Val1618Gly)
c.2783T>G (p.Val928Gly)
c.8156T>G (p.Val2719Gly)
c.8102T>G (p.Val2701Gly)
c.7892T>G (p.Val2631Gly)
c.7538T>G (p.Val2513Gly)
c.5435T>G (p.Val1812Gly)
n.8385T>G
c.8021T>G (p.Val2674Gly)
c.7217T>G (p.Val2406Gly)
c.7022T>G (p.Val2341Gly)
n.8379T>G
n.8325T>G
n.8434T>G
5g.37153903A>GCA359474121CPLANE1n.1209T>C
c.8210T>C (p.Val2737Ala)
c.8048T>C (p.Val2683Ala)
c.5222T>C (p.Val1741Ala)
n.452T>C
n.501T>C
c.1324T>C
c.5246T>C (p.Val1749Ala)
c.8207T>C (p.Val2736Ala)
c.8099T>C (p.Val2700Ala)
c.8081T>C (p.Val2694Ala)
c.4853T>C (p.Val1618Ala)
c.2783T>C (p.Val928Ala)
c.8156T>C (p.Val2719Ala)
c.8102T>C (p.Val2701Ala)
c.7892T>C (p.Val2631Ala)
c.7538T>C (p.Val2513Ala)
c.5435T>C (p.Val1812Ala)
n.8385T>C
c.8021T>C (p.Val2674Ala)
c.7217T>C (p.Val2406Ala)
c.7022T>C (p.Val2341Ala)
n.8379T>C
n.8325T>C
n.8434T>C
5g.37153903A>TCA359474119CPLANE1n.1209T>A
c.8210T>A (p.Val2737Asp)
c.8048T>A (p.Val2683Asp)
c.5222T>A (p.Val1741Asp)
n.452T>A
n.501T>A
c.1324T>A
c.5246T>A (p.Val1749Asp)
c.8207T>A (p.Val2736Asp)
c.8099T>A (p.Val2700Asp)
c.8081T>A (p.Val2694Asp)
c.4853T>A (p.Val1618Asp)
c.2783T>A (p.Val928Asp)
c.8156T>A (p.Val2719Asp)
c.8102T>A (p.Val2701Asp)
c.7892T>A (p.Val2631Asp)
c.7538T>A (p.Val2513Asp)
c.5435T>A (p.Val1812Asp)
n.8385T>A
c.8021T>A (p.Val2674Asp)
c.7217T>A (p.Val2406Asp)
c.7022T>A (p.Val2341Asp)
n.8379T>A
n.8325T>A
n.8434T>A
5g.37153904C>ACA359474122CPLANE1n.1208G>T
c.8209G>T (p.Val2737Phe)
c.8047G>T (p.Val2683Phe)
c.5221G>T (p.Val1741Phe)
n.451G>T
n.500G>T
c.1323G>T
c.5245G>T (p.Val1749Phe)
c.8206G>T (p.Val2736Phe)
c.8098G>T (p.Val2700Phe)
c.8080G>T (p.Val2694Phe)
c.4852G>T (p.Val1618Phe)
c.2782G>T (p.Val928Phe)
c.8155G>T (p.Val2719Phe)
c.8101G>T (p.Val2701Phe)
c.7891G>T (p.Val2631Phe)
c.7537G>T (p.Val2513Phe)
c.5434G>T (p.Val1812Phe)
n.8384G>T
c.8020G>T (p.Val2674Phe)
c.7216G>T (p.Val2406Phe)
c.7021G>T (p.Val2341Phe)
n.8378G>T
n.8324G>T
n.8433G>T
5g.37153904C=CA1539651295CPLANE1n.1208G=
c.8209G= (p.Val2737=)
c.8047G= (p.Val2683=)
c.5221G= (p.Val1741=)
n.451G=
n.500G=
c.1323G=
c.5245G= (p.Val1749=)
c.8206G= (p.Val2736=)
c.8098G= (p.Val2700=)
c.8080G= (p.Val2694=)
c.4852G= (p.Val1618=)
c.2782G= (p.Val928=)
c.8155G= (p.Val2719=)
c.8101G= (p.Val2701=)
c.7891G= (p.Val2631=)
c.7537G= (p.Val2513=)
c.5434G= (p.Val1812=)
n.8384G=
c.8020G= (p.Val2674=)
c.7216G= (p.Val2406=)
c.7021G= (p.Val2341=)
n.8378G=
n.8324G=
n.8433G=
5g.37153904C>GCA359474123CPLANE1n.1208G>C
c.8209G>C (p.Val2737Leu)
c.8047G>C (p.Val2683Leu)
c.5221G>C (p.Val1741Leu)
n.451G>C
n.500G>C
c.1323G>C
c.5245G>C (p.Val1749Leu)
c.8206G>C (p.Val2736Leu)
c.8098G>C (p.Val2700Leu)
c.8080G>C (p.Val2694Leu)
c.4852G>C (p.Val1618Leu)
c.2782G>C (p.Val928Leu)
c.8155G>C (p.Val2719Leu)
c.8101G>C (p.Val2701Leu)
c.7891G>C (p.Val2631Leu)
c.7537G>C (p.Val2513Leu)
c.5434G>C (p.Val1812Leu)
n.8384G>C
c.8020G>C (p.Val2674Leu)
c.7216G>C (p.Val2406Leu)
c.7021G>C (p.Val2341Leu)
n.8378G>C
n.8324G>C
n.8433G>C
5g.37153904C>TCA359474125CPLANE1n.1208G>A
c.8209G>A (p.Val2737Ile)
c.8047G>A (p.Val2683Ile)
c.5221G>A (p.Val1741Ile)
n.451G>A
n.500G>A
c.1323G>A
c.5245G>A (p.Val1749Ile)
c.8206G>A (p.Val2736Ile)
c.8098G>A (p.Val2700Ile)
c.8080G>A (p.Val2694Ile)
c.4852G>A (p.Val1618Ile)
c.2782G>A (p.Val928Ile)
c.8155G>A (p.Val2719Ile)
c.8101G>A (p.Val2701Ile)
c.7891G>A (p.Val2631Ile)
c.7537G>A (p.Val2513Ile)
c.5434G>A (p.Val1812Ile)
n.8384G>A
c.8020G>A (p.Val2674Ile)
c.7216G>A (p.Val2406Ile)
c.7021G>A (p.Val2341Ile)
n.8378G>A
n.8324G>A
n.8433G>A
 dbSNP
5g.37153905A=CA1539651300CPLANE1n.1207T=
c.8208T= (p.Gly2736=)
c.8046T= (p.Gly2682=)
c.5220T= (p.Gly1740=)
n.450T=
n.499T=
c.1322T=
c.5244T= (p.Gly1748=)
n.460T=
c.8205T= (p.Gly2735=)
c.8097T= (p.Gly2699=)
c.8079T= (p.Gly2693=)
c.4851T= (p.Gly1617=)
c.2781T= (p.Gly927=)
c.8154T= (p.Gly2718=)
c.8100T= (p.Gly2700=)
c.7890T= (p.Gly2630=)
c.7536T= (p.Gly2512=)
c.5433T= (p.Gly1811=)
n.8383T=
c.8019T= (p.Gly2673=)
c.7215T= (p.Gly2405=)
c.7020T= (p.Gly2340=)
n.8377T=
n.8323T=
n.8432T=
5g.37153905A>CCA444096737CPLANE1n.1207T>G
c.8208T>G (p.Gly2736=)
c.8046T>G (p.Gly2682=)
c.5220T>G (p.Gly1740=)
n.450T>G
n.499T>G
c.1322T>G
c.5244T>G (p.Gly1748=)
n.460T>G
c.8205T>G (p.Gly2735=)
c.8097T>G (p.Gly2699=)
c.8079T>G (p.Gly2693=)
c.4851T>G (p.Gly1617=)
c.2781T>G (p.Gly927=)
c.8154T>G (p.Gly2718=)
c.8100T>G (p.Gly2700=)
c.7890T>G (p.Gly2630=)
c.7536T>G (p.Gly2512=)
c.5433T>G (p.Gly1811=)
n.8383T>G
c.8019T>G (p.Gly2673=)
c.7215T>G (p.Gly2405=)
c.7020T>G (p.Gly2340=)
n.8377T>G
n.8323T>G
n.8432T>G
 dbSNP
5g.37153905A>GCA444096738CPLANE1n.1207T>C
c.8208T>C (p.Gly2736=)
c.8046T>C (p.Gly2682=)
c.5220T>C (p.Gly1740=)
n.450T>C
n.499T>C
c.1322T>C
c.5244T>C (p.Gly1748=)
n.460T>C
c.8205T>C (p.Gly2735=)
c.8097T>C (p.Gly2699=)
c.8079T>C (p.Gly2693=)
c.4851T>C (p.Gly1617=)
c.2781T>C (p.Gly927=)
c.8154T>C (p.Gly2718=)
c.8100T>C (p.Gly2700=)
c.7890T>C (p.Gly2630=)
c.7536T>C (p.Gly2512=)
c.5433T>C (p.Gly1811=)
n.8383T>C
c.8019T>C (p.Gly2673=)
c.7215T>C (p.Gly2405=)
c.7020T>C (p.Gly2340=)
n.8377T>C
n.8323T>C
n.8432T>C
5g.37153905A>TCA444096739CPLANE1n.1207T>A
c.8208T>A (p.Gly2736=)
c.8046T>A (p.Gly2682=)
c.5220T>A (p.Gly1740=)
n.450T>A
n.499T>A
c.1322T>A
c.5244T>A (p.Gly1748=)
n.460T>A
c.8205T>A (p.Gly2735=)
c.8097T>A (p.Gly2699=)
c.8079T>A (p.Gly2693=)
c.4851T>A (p.Gly1617=)
c.2781T>A (p.Gly927=)
c.8154T>A (p.Gly2718=)
c.8100T>A (p.Gly2700=)
c.7890T>A (p.Gly2630=)
c.7536T>A (p.Gly2512=)
c.5433T>A (p.Gly1811=)
n.8383T>A
c.8019T>A (p.Gly2673=)
c.7215T>A (p.Gly2405=)
c.7020T>A (p.Gly2340=)
n.8377T>A
n.8323T>A
n.8432T>A
5g.37153906C>ACA359474127CPLANE1n.1206G>T
c.8207G>T (p.Gly2736Val)
c.8045G>T (p.Gly2682Val)
c.5219G>T (p.Gly1740Val)
n.449G>T
n.498G>T
c.1321G>T
c.5243G>T (p.Gly1748Val)
n.459G>T
c.8204G>T (p.Gly2735Val)
c.8096G>T (p.Gly2699Val)
c.8078G>T (p.Gly2693Val)
c.4850G>T (p.Gly1617Val)
c.2780G>T (p.Gly927Val)
c.8153G>T (p.Gly2718Val)
c.8099G>T (p.Gly2700Val)
c.7889G>T (p.Gly2630Val)
c.7535G>T (p.Gly2512Val)
c.5432G>T (p.Gly1811Val)
n.8382G>T
c.8018G>T (p.Gly2673Val)
c.7214G>T (p.Gly2405Val)
c.7019G>T (p.Gly2340Val)
n.8376G>T
n.8322G>T
n.8431G>T
 gnomAD v4
5g.37153906C=CA1539651304CPLANE1n.1206G=
c.8207G= (p.Gly2736=)
c.8045G= (p.Gly2682=)
c.5219G= (p.Gly1740=)
n.449G=
n.498G=
c.1321G=
c.5243G= (p.Gly1748=)
n.459G=
c.8204G= (p.Gly2735=)
c.8096G= (p.Gly2699=)
c.8078G= (p.Gly2693=)
c.4850G= (p.Gly1617=)
c.2780G= (p.Gly927=)
c.8153G= (p.Gly2718=)
c.8099G= (p.Gly2700=)
c.7889G= (p.Gly2630=)
c.7535G= (p.Gly2512=)
c.5432G= (p.Gly1811=)
n.8382G=
c.8018G= (p.Gly2673=)
c.7214G= (p.Gly2405=)
c.7019G= (p.Gly2340=)
n.8376G=
n.8322G=
n.8431G=
5g.37153906C>GCA359474128CPLANE1n.1206G>C
c.8207G>C (p.Gly2736Ala)
c.8045G>C (p.Gly2682Ala)
c.5219G>C (p.Gly1740Ala)
n.449G>C
n.498G>C
c.1321G>C
c.5243G>C (p.Gly1748Ala)
n.459G>C
c.8204G>C (p.Gly2735Ala)
c.8096G>C (p.Gly2699Ala)
c.8078G>C (p.Gly2693Ala)
c.4850G>C (p.Gly1617Ala)
c.2780G>C (p.Gly927Ala)
c.8153G>C (p.Gly2718Ala)
c.8099G>C (p.Gly2700Ala)
c.7889G>C (p.Gly2630Ala)
c.7535G>C (p.Gly2512Ala)
c.5432G>C (p.Gly1811Ala)
n.8382G>C
c.8018G>C (p.Gly2673Ala)
c.7214G>C (p.Gly2405Ala)
c.7019G>C (p.Gly2340Ala)
n.8376G>C
n.8322G>C
n.8431G>C
5g.37153906C>TCA359474129CPLANE1n.1206G>A
c.8207G>A (p.Gly2736Asp)
c.8045G>A (p.Gly2682Asp)
c.5219G>A (p.Gly1740Asp)
n.449G>A
n.498G>A
c.1321G>A
c.5243G>A (p.Gly1748Asp)
n.459G>A
c.8204G>A (p.Gly2735Asp)
c.8096G>A (p.Gly2699Asp)
c.8078G>A (p.Gly2693Asp)
c.4850G>A (p.Gly1617Asp)
c.2780G>A (p.Gly927Asp)
c.8153G>A (p.Gly2718Asp)
c.8099G>A (p.Gly2700Asp)
c.7889G>A (p.Gly2630Asp)
c.7535G>A (p.Gly2512Asp)
c.5432G>A (p.Gly1811Asp)
n.8382G>A
c.8018G>A (p.Gly2673Asp)
c.7214G>A (p.Gly2405Asp)
c.7019G>A (p.Gly2340Asp)
n.8376G>A
n.8322G>A
n.8431G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37153907C>ACA359474131CPLANE1n.1205G>T
c.8206G>T (p.Gly2736Cys)
c.8044G>T (p.Gly2682Cys)
c.5218G>T (p.Gly1740Cys)
n.448G>T
n.497G>T
c.1320G>T
c.5242G>T (p.Gly1748Cys)
n.458G>T
c.8203G>T (p.Gly2735Cys)
c.8095G>T (p.Gly2699Cys)
c.8077G>T (p.Gly2693Cys)
c.4849G>T (p.Gly1617Cys)
c.2779G>T (p.Gly927Cys)
c.8152G>T (p.Gly2718Cys)
c.8098G>T (p.Gly2700Cys)
c.7888G>T (p.Gly2630Cys)
c.7534G>T (p.Gly2512Cys)
c.5431G>T (p.Gly1811Cys)
n.8381G>T
c.8017G>T (p.Gly2673Cys)
c.7213G>T (p.Gly2405Cys)
c.7018G>T (p.Gly2340Cys)
n.8375G>T
n.8321G>T
n.8430G>T
 gnomAD v4
5g.37153907C=CA1539651308CPLANE1n.1205G=
c.8206G= (p.Gly2736=)
c.8044G= (p.Gly2682=)
c.5218G= (p.Gly1740=)
n.448G=
n.497G=
c.1320G=
c.5242G= (p.Gly1748=)
n.458G=
c.8203G= (p.Gly2735=)
c.8095G= (p.Gly2699=)
c.8077G= (p.Gly2693=)
c.4849G= (p.Gly1617=)
c.2779G= (p.Gly927=)
c.8152G= (p.Gly2718=)
c.8098G= (p.Gly2700=)
c.7888G= (p.Gly2630=)
c.7534G= (p.Gly2512=)
c.5431G= (p.Gly1811=)
n.8381G=
c.8017G= (p.Gly2673=)
c.7213G= (p.Gly2405=)
c.7018G= (p.Gly2340=)
n.8375G=
n.8321G=
n.8430G=
5g.37153907C>GCA3237843CPLANE1n.1205G>C
c.8206G>C (p.Gly2736Arg)
c.8044G>C (p.Gly2682Arg)
c.5218G>C (p.Gly1740Arg)
n.448G>C
n.497G>C
c.1320G>C
c.5242G>C (p.Gly1748Arg)
n.458G>C
c.8203G>C (p.Gly2735Arg)
c.8095G>C (p.Gly2699Arg)
c.8077G>C (p.Gly2693Arg)
c.4849G>C (p.Gly1617Arg)
c.2779G>C (p.Gly927Arg)
c.8152G>C (p.Gly2718Arg)
c.8098G>C (p.Gly2700Arg)
c.7888G>C (p.Gly2630Arg)
c.7534G>C (p.Gly2512Arg)
c.5431G>C (p.Gly1811Arg)
n.8381G>C
c.8017G>C (p.Gly2673Arg)
c.7213G>C (p.Gly2405Arg)
c.7018G>C (p.Gly2340Arg)
n.8375G>C
n.8321G>C
n.8430G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37153907C>TCA359474133CPLANE1n.1205G>A
c.8206G>A (p.Gly2736Ser)
c.8044G>A (p.Gly2682Ser)
c.5218G>A (p.Gly1740Ser)
n.448G>A
n.497G>A
c.1320G>A
c.5242G>A (p.Gly1748Ser)
n.458G>A
c.8203G>A (p.Gly2735Ser)
c.8095G>A (p.Gly2699Ser)
c.8077G>A (p.Gly2693Ser)
c.4849G>A (p.Gly1617Ser)
c.2779G>A (p.Gly927Ser)
c.8152G>A (p.Gly2718Ser)
c.8098G>A (p.Gly2700Ser)
c.7888G>A (p.Gly2630Ser)
c.7534G>A (p.Gly2512Ser)
c.5431G>A (p.Gly1811Ser)
n.8381G>A
c.8017G>A (p.Gly2673Ser)
c.7213G>A (p.Gly2405Ser)
c.7018G>A (p.Gly2340Ser)
n.8375G>A
n.8321G>A
n.8430G>A
5g.37153908T>ACA359474135CPLANE1n.1204A>T
c.8205A>T (p.Gln2735His)
c.8043A>T (p.Gln2681His)
c.5217A>T (p.Gln1739His)
n.447A>T
n.496A>T
c.1319A>T
c.5241A>T (p.Gln1747His)
n.457A>T
c.8202A>T (p.Gln2734His)
c.8094A>T (p.Gln2698His)
c.8076A>T (p.Gln2692His)
c.4848A>T (p.Gln1616His)
c.2778A>T (p.Gln926His)
c.8151A>T (p.Gln2717His)
c.8097A>T (p.Gln2699His)
c.7887A>T (p.Gln2629His)
c.7533A>T (p.Gln2511His)
c.5430A>T (p.Gln1810His)
n.8380A>T
c.8016A>T (p.Gln2672His)
c.7212A>T (p.Gln2404His)
c.7017A>T (p.Gln2339His)
n.8374A>T
n.8320A>T
n.8429A>T
5g.37153908T>CCA3237844CPLANE1n.1204A>G
c.8205A>G (p.Gln2735=)
c.8043A>G (p.Gln2681=)
c.5217A>G (p.Gln1739=)
n.447A>G
n.496A>G
c.1319A>G
c.5241A>G (p.Gln1747=)
n.457A>G
c.8202A>G (p.Gln2734=)
c.8094A>G (p.Gln2698=)
c.8076A>G (p.Gln2692=)
c.4848A>G (p.Gln1616=)
c.2778A>G (p.Gln926=)
c.8151A>G (p.Gln2717=)
c.8097A>G (p.Gln2699=)
c.7887A>G (p.Gln2629=)
c.7533A>G (p.Gln2511=)
c.5430A>G (p.Gln1810=)
n.8380A>G
c.8016A>G (p.Gln2672=)
c.7212A>G (p.Gln2404=)
c.7017A>G (p.Gln2339=)
n.8374A>G
n.8320A>G
n.8429A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37153908T>GCA359474137CPLANE1n.1204A>C
c.8205A>C (p.Gln2735His)
c.8043A>C (p.Gln2681His)
c.5217A>C (p.Gln1739His)
n.447A>C
n.496A>C
c.1319A>C
c.5241A>C (p.Gln1747His)
n.457A>C
c.8202A>C (p.Gln2734His)
c.8094A>C (p.Gln2698His)
c.8076A>C (p.Gln2692His)
c.4848A>C (p.Gln1616His)
c.2778A>C (p.Gln926His)
c.8151A>C (p.Gln2717His)
c.8097A>C (p.Gln2699His)
c.7887A>C (p.Gln2629His)
c.7533A>C (p.Gln2511His)
c.5430A>C (p.Gln1810His)
n.8380A>C
c.8016A>C (p.Gln2672His)
c.7212A>C (p.Gln2404His)
c.7017A>C (p.Gln2339His)
n.8374A>C
n.8320A>C
n.8429A>C
5g.37153908T=CA1539651317CPLANE1n.1204A=
c.8205A= (p.Gln2735=)
c.8043A= (p.Gln2681=)
c.5217A= (p.Gln1739=)
n.447A=
n.496A=
c.1319A=
c.5241A= (p.Gln1747=)
n.457A=
c.8202A= (p.Gln2734=)
c.8094A= (p.Gln2698=)
c.8076A= (p.Gln2692=)
c.4848A= (p.Gln1616=)
c.2778A= (p.Gln926=)
c.8151A= (p.Gln2717=)
c.8097A= (p.Gln2699=)
c.7887A= (p.Gln2629=)
c.7533A= (p.Gln2511=)
c.5430A= (p.Gln1810=)
n.8380A=
c.8016A= (p.Gln2672=)
c.7212A= (p.Gln2404=)
c.7017A= (p.Gln2339=)
n.8374A=
n.8320A=
n.8429A=
5g.37153909T>ACA359474142CPLANE1n.1203A>T
c.8204A>T (p.Gln2735Leu)
c.8042A>T (p.Gln2681Leu)
c.5216A>T (p.Gln1739Leu)
n.446A>T
n.495A>T
c.1318A>T
c.5240A>T (p.Gln1747Leu)
n.456A>T
c.8201A>T (p.Gln2734Leu)
c.8093A>T (p.Gln2698Leu)
c.8075A>T (p.Gln2692Leu)
c.4847A>T (p.Gln1616Leu)
c.2777A>T (p.Gln926Leu)
c.8150A>T (p.Gln2717Leu)
c.8096A>T (p.Gln2699Leu)
c.7886A>T (p.Gln2629Leu)
c.7532A>T (p.Gln2511Leu)
c.5429A>T (p.Gln1810Leu)
n.8379A>T
c.8015A>T (p.Gln2672Leu)
c.7211A>T (p.Gln2404Leu)
c.7016A>T (p.Gln2339Leu)
n.8373A>T
n.8319A>T
n.8428A>T
5g.37153909T>CCA359474139CPLANE1n.1203A>G
c.8204A>G (p.Gln2735Arg)
c.8042A>G (p.Gln2681Arg)
c.5216A>G (p.Gln1739Arg)
n.446A>G
n.495A>G
c.1318A>G
c.5240A>G (p.Gln1747Arg)
n.456A>G
c.8201A>G (p.Gln2734Arg)
c.8093A>G (p.Gln2698Arg)
c.8075A>G (p.Gln2692Arg)
c.4847A>G (p.Gln1616Arg)
c.2777A>G (p.Gln926Arg)
c.8150A>G (p.Gln2717Arg)
c.8096A>G (p.Gln2699Arg)
c.7886A>G (p.Gln2629Arg)
c.7532A>G (p.Gln2511Arg)
c.5429A>G (p.Gln1810Arg)
n.8379A>G
c.8015A>G (p.Gln2672Arg)
c.7211A>G (p.Gln2404Arg)
c.7016A>G (p.Gln2339Arg)
n.8373A>G
n.8319A>G
n.8428A>G
5g.37153909T>GCA359474140CPLANE1n.1203A>C
c.8204A>C (p.Gln2735Pro)
c.8042A>C (p.Gln2681Pro)
c.5216A>C (p.Gln1739Pro)
n.446A>C
n.495A>C
c.1318A>C
c.5240A>C (p.Gln1747Pro)
n.456A>C
c.8201A>C (p.Gln2734Pro)
c.8093A>C (p.Gln2698Pro)
c.8075A>C (p.Gln2692Pro)
c.4847A>C (p.Gln1616Pro)
c.2777A>C (p.Gln926Pro)
c.8150A>C (p.Gln2717Pro)
c.8096A>C (p.Gln2699Pro)
c.7886A>C (p.Gln2629Pro)
c.7532A>C (p.Gln2511Pro)
c.5429A>C (p.Gln1810Pro)
n.8379A>C
c.8015A>C (p.Gln2672Pro)
c.7211A>C (p.Gln2404Pro)
c.7016A>C (p.Gln2339Pro)
n.8373A>C
n.8319A>C
n.8428A>C
5g.37153910G>ACA359474143CPLANE1n.1202C>T
c.8203C>T (p.Gln2735Ter)
c.8041C>T (p.Gln2681Ter)
c.5215C>T (p.Gln1739Ter)
n.445C>T
n.494C>T
c.1317C>T
c.5239C>T (p.Gln1747Ter)
n.455C>T
c.8200C>T (p.Gln2734Ter)
c.8092C>T (p.Gln2698Ter)
c.8074C>T (p.Gln2692Ter)
c.4846C>T (p.Gln1616Ter)
c.2776C>T (p.Gln926Ter)
c.8149C>T (p.Gln2717Ter)
c.8095C>T (p.Gln2699Ter)
c.7885C>T (p.Gln2629Ter)
c.7531C>T (p.Gln2511Ter)
c.5428C>T (p.Gln1810Ter)
n.8378C>T
c.8014C>T (p.Gln2672Ter)
c.7210C>T (p.Gln2404Ter)
c.7015C>T (p.Gln2339Ter)
n.8372C>T
n.8318C>T
n.8427C>T
5g.37153910G>CCA359474145CPLANE1n.1202C>G
c.8203C>G (p.Gln2735Glu)
c.8041C>G (p.Gln2681Glu)
c.5215C>G (p.Gln1739Glu)
n.445C>G
n.494C>G
c.1317C>G
c.5239C>G (p.Gln1747Glu)
n.455C>G
c.8200C>G (p.Gln2734Glu)
c.8092C>G (p.Gln2698Glu)
c.8074C>G (p.Gln2692Glu)
c.4846C>G (p.Gln1616Glu)
c.2776C>G (p.Gln926Glu)
c.8149C>G (p.Gln2717Glu)
c.8095C>G (p.Gln2699Glu)
c.7885C>G (p.Gln2629Glu)
c.7531C>G (p.Gln2511Glu)
c.5428C>G (p.Gln1810Glu)
n.8378C>G
c.8014C>G (p.Gln2672Glu)
c.7210C>G (p.Gln2404Glu)
c.7015C>G (p.Gln2339Glu)
n.8372C>G
n.8318C>G
n.8427C>G
5g.37153910G>TCA359474146CPLANE1n.1202C>A
c.8203C>A (p.Gln2735Lys)
c.8041C>A (p.Gln2681Lys)
c.5215C>A (p.Gln1739Lys)
n.445C>A
n.494C>A
c.1317C>A
c.5239C>A (p.Gln1747Lys)
n.455C>A
c.8200C>A (p.Gln2734Lys)
c.8092C>A (p.Gln2698Lys)
c.8074C>A (p.Gln2692Lys)
c.4846C>A (p.Gln1616Lys)
c.2776C>A (p.Gln926Lys)
c.8149C>A (p.Gln2717Lys)
c.8095C>A (p.Gln2699Lys)
c.7885C>A (p.Gln2629Lys)
c.7531C>A (p.Gln2511Lys)
c.5428C>A (p.Gln1810Lys)
n.8378C>A
c.8014C>A (p.Gln2672Lys)
c.7210C>A (p.Gln2404Lys)
c.7015C>A (p.Gln2339Lys)
n.8372C>A
n.8318C>A
n.8427C>A
5g.37153911C>ACA444096740CPLANE1n.1201G>T
c.8202G>T (p.Leu2734=)
c.8040G>T (p.Leu2680=)
c.5214G>T (p.Leu1738=)
n.444G>T
n.493G>T
c.1316G>T
c.5238G>T (p.Leu1746=)
n.454G>T
c.8199G>T (p.Leu2733=)
c.8091G>T (p.Leu2697=)
c.8073G>T (p.Leu2691=)
c.4845G>T (p.Leu1615=)
c.2775G>T (p.Leu925=)
c.8148G>T (p.Leu2716=)
c.8094G>T (p.Leu2698=)
c.7884G>T (p.Leu2628=)
c.7530G>T (p.Leu2510=)
c.5427G>T (p.Leu1809=)
n.8377G>T
c.8013G>T (p.Leu2671=)
c.7209G>T (p.Leu2403=)
c.7014G>T (p.Leu2338=)
n.8371G>T
n.8317G>T
n.8426G>T
5g.37153911C>GCA444096741CPLANE1n.1201G>C
c.8202G>C (p.Leu2734=)
c.8040G>C (p.Leu2680=)
c.5214G>C (p.Leu1738=)
n.444G>C
n.493G>C
c.1316G>C
c.5238G>C (p.Leu1746=)
n.454G>C
c.8199G>C (p.Leu2733=)
c.8091G>C (p.Leu2697=)
c.8073G>C (p.Leu2691=)
c.4845G>C (p.Leu1615=)
c.2775G>C (p.Leu925=)
c.8148G>C (p.Leu2716=)
c.8094G>C (p.Leu2698=)
c.7884G>C (p.Leu2628=)
c.7530G>C (p.Leu2510=)
c.5427G>C (p.Leu1809=)
n.8377G>C
c.8013G>C (p.Leu2671=)
c.7209G>C (p.Leu2403=)
c.7014G>C (p.Leu2338=)
n.8371G>C
n.8317G>C
n.8426G>C
5g.37153911C>TCA444096742CPLANE1n.1201G>A
c.8202G>A (p.Leu2734=)
c.8040G>A (p.Leu2680=)
c.5214G>A (p.Leu1738=)
n.444G>A
n.493G>A
c.1316G>A
c.5238G>A (p.Leu1746=)
n.454G>A
c.8199G>A (p.Leu2733=)
c.8091G>A (p.Leu2697=)
c.8073G>A (p.Leu2691=)
c.4845G>A (p.Leu1615=)
c.2775G>A (p.Leu925=)
c.8148G>A (p.Leu2716=)
c.8094G>A (p.Leu2698=)
c.7884G>A (p.Leu2628=)
c.7530G>A (p.Leu2510=)
c.5427G>A (p.Leu1809=)
n.8377G>A
c.8013G>A (p.Leu2671=)
c.7209G>A (p.Leu2403=)
c.7014G>A (p.Leu2338=)
n.8371G>A
n.8317G>A
n.8426G>A
5g.37153912A>CCA359474148CPLANE1n.1200T>G
c.8201T>G (p.Leu2734Arg)
c.8039T>G (p.Leu2680Arg)
c.5213T>G (p.Leu1738Arg)
n.443T>G
n.492T>G
c.1315T>G
c.5237T>G (p.Leu1746Arg)
n.453T>G
c.8198T>G (p.Leu2733Arg)
c.8090T>G (p.Leu2697Arg)
c.8072T>G (p.Leu2691Arg)
c.4844T>G (p.Leu1615Arg)
c.2774T>G (p.Leu925Arg)
c.8147T>G (p.Leu2716Arg)
c.8093T>G (p.Leu2698Arg)
c.7883T>G (p.Leu2628Arg)
c.7529T>G (p.Leu2510Arg)
c.5426T>G (p.Leu1809Arg)
n.8376T>G
c.8012T>G (p.Leu2671Arg)
c.7208T>G (p.Leu2403Arg)
c.7013T>G (p.Leu2338Arg)
n.8370T>G
n.8316T>G
n.8425T>G
5g.37153912A>GCA359474150CPLANE1n.1200T>C
c.8201T>C (p.Leu2734Pro)
c.8039T>C (p.Leu2680Pro)
c.5213T>C (p.Leu1738Pro)
n.443T>C
n.492T>C
c.1315T>C
c.5237T>C (p.Leu1746Pro)
n.453T>C
c.8198T>C (p.Leu2733Pro)
c.8090T>C (p.Leu2697Pro)
c.8072T>C (p.Leu2691Pro)
c.4844T>C (p.Leu1615Pro)
c.2774T>C (p.Leu925Pro)
c.8147T>C (p.Leu2716Pro)
c.8093T>C (p.Leu2698Pro)
c.7883T>C (p.Leu2628Pro)
c.7529T>C (p.Leu2510Pro)
c.5426T>C (p.Leu1809Pro)
n.8376T>C
c.8012T>C (p.Leu2671Pro)
c.7208T>C (p.Leu2403Pro)
c.7013T>C (p.Leu2338Pro)
n.8370T>C
n.8316T>C
n.8425T>C
 gnomAD v4
5g.37153912A>TCA359474151CPLANE1n.1200T>A
c.8201T>A (p.Leu2734Gln)
c.8039T>A (p.Leu2680Gln)
c.5213T>A (p.Leu1738Gln)
n.443T>A
n.492T>A
c.1315T>A
c.5237T>A (p.Leu1746Gln)
n.453T>A
c.8198T>A (p.Leu2733Gln)
c.8090T>A (p.Leu2697Gln)
c.8072T>A (p.Leu2691Gln)
c.4844T>A (p.Leu1615Gln)
c.2774T>A (p.Leu925Gln)
c.8147T>A (p.Leu2716Gln)
c.8093T>A (p.Leu2698Gln)
c.7883T>A (p.Leu2628Gln)
c.7529T>A (p.Leu2510Gln)
c.5426T>A (p.Leu1809Gln)
n.8376T>A
c.8012T>A (p.Leu2671Gln)
c.7208T>A (p.Leu2403Gln)
c.7013T>A (p.Leu2338Gln)
n.8370T>A
n.8316T>A
n.8425T>A
5g.37153913G>ACA444096743CPLANE1n.1199C>T
c.8200C>T (p.Leu2734=)
c.8038C>T (p.Leu2680=)
c.5212C>T (p.Leu1738=)
n.442C>T
n.491C>T
c.1314C>T
c.5236C>T (p.Leu1746=)
n.452C>T
c.8197C>T (p.Leu2733=)
c.8089C>T (p.Leu2697=)
c.8071C>T (p.Leu2691=)
c.4843C>T (p.Leu1615=)
c.2773C>T (p.Leu925=)
c.8146C>T (p.Leu2716=)
c.8092C>T (p.Leu2698=)
c.7882C>T (p.Leu2628=)
c.7528C>T (p.Leu2510=)
c.5425C>T (p.Leu1809=)
n.8375C>T
c.8011C>T (p.Leu2671=)
c.7207C>T (p.Leu2403=)
c.7012C>T (p.Leu2338=)
n.8369C>T
n.8315C>T
n.8424C>T
 dbSNP gnomAD v2 gnomAD v4
5g.37153913G>CCA359474153CPLANE1n.1199C>G
c.8200C>G (p.Leu2734Val)
c.8038C>G (p.Leu2680Val)
c.5212C>G (p.Leu1738Val)
n.442C>G
n.491C>G
c.1314C>G
c.5236C>G (p.Leu1746Val)
n.452C>G
c.8197C>G (p.Leu2733Val)
c.8089C>G (p.Leu2697Val)
c.8071C>G (p.Leu2691Val)
c.4843C>G (p.Leu1615Val)
c.2773C>G (p.Leu925Val)
c.8146C>G (p.Leu2716Val)
c.8092C>G (p.Leu2698Val)
c.7882C>G (p.Leu2628Val)
c.7528C>G (p.Leu2510Val)
c.5425C>G (p.Leu1809Val)
n.8375C>G
c.8011C>G (p.Leu2671Val)
c.7207C>G (p.Leu2403Val)
c.7012C>G (p.Leu2338Val)
n.8369C>G
n.8315C>G
n.8424C>G
5g.37153913G=CA1539651324CPLANE1n.1199C=
c.8200C= (p.Leu2734=)
c.8038C= (p.Leu2680=)
c.5212C= (p.Leu1738=)
n.442C=
n.491C=
c.1314C=
c.5236C= (p.Leu1746=)
n.452C=
c.8197C= (p.Leu2733=)
c.8089C= (p.Leu2697=)
c.8071C= (p.Leu2691=)
c.4843C= (p.Leu1615=)
c.2773C= (p.Leu925=)
c.8146C= (p.Leu2716=)
c.8092C= (p.Leu2698=)
c.7882C= (p.Leu2628=)
c.7528C= (p.Leu2510=)
c.5425C= (p.Leu1809=)
n.8375C=
c.8011C= (p.Leu2671=)
c.7207C= (p.Leu2403=)
c.7012C= (p.Leu2338=)
n.8369C=
n.8315C=
n.8424C=
5g.37153913G>TCA359474155CPLANE1n.1199C>A
c.8200C>A (p.Leu2734Met)
c.8038C>A (p.Leu2680Met)
c.5212C>A (p.Leu1738Met)
n.442C>A
n.491C>A
c.1314C>A
c.5236C>A (p.Leu1746Met)
n.452C>A
c.8197C>A (p.Leu2733Met)
c.8089C>A (p.Leu2697Met)
c.8071C>A (p.Leu2691Met)
c.4843C>A (p.Leu1615Met)
c.2773C>A (p.Leu925Met)
c.8146C>A (p.Leu2716Met)
c.8092C>A (p.Leu2698Met)
c.7882C>A (p.Leu2628Met)
c.7528C>A (p.Leu2510Met)
c.5425C>A (p.Leu1809Met)
n.8375C>A
c.8011C>A (p.Leu2671Met)
c.7207C>A (p.Leu2403Met)
c.7012C>A (p.Leu2338Met)
n.8369C>A
n.8315C>A
n.8424C>A
5g.37153914C>ACA444096744CPLANE1n.1198G>T
c.8199G>T (p.Arg2733=)
c.8037G>T (p.Arg2679=)
c.5211G>T (p.Arg1737=)
n.441G>T
n.490G>T
c.1313G>T
c.5235G>T (p.Arg1745=)
n.451G>T
c.8196G>T (p.Arg2732=)
c.8088G>T (p.Arg2696=)
c.8070G>T (p.Arg2690=)
c.4842G>T (p.Arg1614=)
c.2772G>T (p.Arg924=)
c.8145G>T (p.Arg2715=)
c.8091G>T (p.Arg2697=)
c.7881G>T (p.Arg2627=)
c.7527G>T (p.Arg2509=)
c.5424G>T (p.Arg1808=)
n.8374G>T
c.8010G>T (p.Arg2670=)
c.7206G>T (p.Arg2402=)
c.7011G>T (p.Arg2337=)
n.8368G>T
n.8314G>T
n.8423G>T
5g.37153914C>GCA444096746CPLANE1n.1198G>C
c.8199G>C (p.Arg2733=)
c.8037G>C (p.Arg2679=)
c.5211G>C (p.Arg1737=)
n.441G>C
n.490G>C
c.1313G>C
c.5235G>C (p.Arg1745=)
n.451G>C
c.8196G>C (p.Arg2732=)
c.8088G>C (p.Arg2696=)
c.8070G>C (p.Arg2690=)
c.4842G>C (p.Arg1614=)
c.2772G>C (p.Arg924=)
c.8145G>C (p.Arg2715=)
c.8091G>C (p.Arg2697=)
c.7881G>C (p.Arg2627=)
c.7527G>C (p.Arg2509=)
c.5424G>C (p.Arg1808=)
n.8374G>C
c.8010G>C (p.Arg2670=)
c.7206G>C (p.Arg2402=)
c.7011G>C (p.Arg2337=)
n.8368G>C
n.8314G>C
n.8423G>C
5g.37153914C>TCA444096745CPLANE1n.1198G>A
c.8199G>A (p.Arg2733=)
c.8037G>A (p.Arg2679=)
c.5211G>A (p.Arg1737=)
n.441G>A
n.490G>A
c.1313G>A
c.5235G>A (p.Arg1745=)
n.451G>A
c.8196G>A (p.Arg2732=)
c.8088G>A (p.Arg2696=)
c.8070G>A (p.Arg2690=)
c.4842G>A (p.Arg1614=)
c.2772G>A (p.Arg924=)
c.8145G>A (p.Arg2715=)
c.8091G>A (p.Arg2697=)
c.7881G>A (p.Arg2627=)
c.7527G>A (p.Arg2509=)
c.5424G>A (p.Arg1808=)
n.8374G>A
c.8010G>A (p.Arg2670=)
c.7206G>A (p.Arg2402=)
c.7011G>A (p.Arg2337=)
n.8368G>A
n.8314G>A
n.8423G>A
5g.37153915C>ACA359474156CPLANE1n.1197G>T
c.8198G>T (p.Arg2733Leu)
c.8036G>T (p.Arg2679Leu)
c.5210G>T (p.Arg1737Leu)
n.440G>T
n.489G>T
c.1312G>T
c.5234G>T (p.Arg1745Leu)
n.450G>T
c.8195G>T (p.Arg2732Leu)
c.8087G>T (p.Arg2696Leu)
c.8069G>T (p.Arg2690Leu)
c.4841G>T (p.Arg1614Leu)
c.2771G>T (p.Arg924Leu)
c.8144G>T (p.Arg2715Leu)
c.8090G>T (p.Arg2697Leu)
c.7880G>T (p.Arg2627Leu)
c.7526G>T (p.Arg2509Leu)
c.5423G>T (p.Arg1808Leu)
n.8373G>T
c.8009G>T (p.Arg2670Leu)
c.7205G>T (p.Arg2402Leu)
c.7010G>T (p.Arg2337Leu)
n.8367G>T
n.8313G>T
n.8422G>T
 gnomAD v4
5g.37153915C=CA1539651327CPLANE1n.1197G=
c.8198G= (p.Arg2733=)
c.8036G= (p.Arg2679=)
c.5210G= (p.Arg1737=)
n.440G=
n.489G=
c.1312G=
c.5234G= (p.Arg1745=)
n.450G=
c.8195G= (p.Arg2732=)
c.8087G= (p.Arg2696=)
c.8069G= (p.Arg2690=)
c.4841G= (p.Arg1614=)
c.2771G= (p.Arg924=)
c.8144G= (p.Arg2715=)
c.8090G= (p.Arg2697=)
c.7880G= (p.Arg2627=)
c.7526G= (p.Arg2509=)
c.5423G= (p.Arg1808=)
n.8373G=
c.8009G= (p.Arg2670=)
c.7205G= (p.Arg2402=)
c.7010G= (p.Arg2337=)
n.8367G=
n.8313G=
n.8422G=
5g.37153915C>GCA359474157CPLANE1n.1197G>C
c.8198G>C (p.Arg2733Pro)
c.8036G>C (p.Arg2679Pro)
c.5210G>C (p.Arg1737Pro)
n.440G>C
n.489G>C
c.1312G>C
c.5234G>C (p.Arg1745Pro)
n.450G>C
c.8195G>C (p.Arg2732Pro)
c.8087G>C (p.Arg2696Pro)
c.8069G>C (p.Arg2690Pro)
c.4841G>C (p.Arg1614Pro)
c.2771G>C (p.Arg924Pro)
c.8144G>C (p.Arg2715Pro)
c.8090G>C (p.Arg2697Pro)
c.7880G>C (p.Arg2627Pro)
c.7526G>C (p.Arg2509Pro)
c.5423G>C (p.Arg1808Pro)
n.8373G>C
c.8009G>C (p.Arg2670Pro)
c.7205G>C (p.Arg2402Pro)
c.7010G>C (p.Arg2337Pro)
n.8367G>C
n.8313G>C
n.8422G>C
 ClinVar dbSNP
5g.37153915C>TCA3237845CPLANE1n.1197G>A
c.8198G>A (p.Arg2733Gln)
c.8036G>A (p.Arg2679Gln)
c.5210G>A (p.Arg1737Gln)
n.440G>A
n.489G>A
c.1312G>A
c.5234G>A (p.Arg1745Gln)
n.450G>A
c.8195G>A (p.Arg2732Gln)
c.8087G>A (p.Arg2696Gln)
c.8069G>A (p.Arg2690Gln)
c.4841G>A (p.Arg1614Gln)
c.2771G>A (p.Arg924Gln)
c.8144G>A (p.Arg2715Gln)
c.8090G>A (p.Arg2697Gln)
c.7880G>A (p.Arg2627Gln)
c.7526G>A (p.Arg2509Gln)
c.5423G>A (p.Arg1808Gln)
n.8373G>A
c.8009G>A (p.Arg2670Gln)
c.7205G>A (p.Arg2402Gln)
c.7010G>A (p.Arg2337Gln)
n.8367G>A
n.8313G>A
n.8422G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37153916G>ACA3237846CPLANE1n.1196C>T
c.8197C>T (p.Arg2733Trp)
c.8035C>T (p.Arg2679Trp)
c.5209C>T (p.Arg1737Trp)
n.439C>T
n.488C>T
c.1311C>T
c.5233C>T (p.Arg1745Trp)
n.449C>T
c.8194C>T (p.Arg2732Trp)
c.8086C>T (p.Arg2696Trp)
c.8068C>T (p.Arg2690Trp)
c.4840C>T (p.Arg1614Trp)
c.2770C>T (p.Arg924Trp)
c.8143C>T (p.Arg2715Trp)
c.8089C>T (p.Arg2697Trp)
c.7879C>T (p.Arg2627Trp)
c.7525C>T (p.Arg2509Trp)
c.5422C>T (p.Arg1808Trp)
n.8372C>T
c.8008C>T (p.Arg2670Trp)
c.7204C>T (p.Arg2402Trp)
c.7009C>T (p.Arg2337Trp)
n.8366C>T
n.8312C>T
n.8421C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.37153916G>CCA359474159CPLANE1n.1196C>G
c.8197C>G (p.Arg2733Gly)
c.8035C>G (p.Arg2679Gly)
c.5209C>G (p.Arg1737Gly)
n.439C>G
n.488C>G
c.1311C>G
c.5233C>G (p.Arg1745Gly)
n.449C>G
c.8194C>G (p.Arg2732Gly)
c.8086C>G (p.Arg2696Gly)
c.8068C>G (p.Arg2690Gly)
c.4840C>G (p.Arg1614Gly)
c.2770C>G (p.Arg924Gly)
c.8143C>G (p.Arg2715Gly)
c.8089C>G (p.Arg2697Gly)
c.7879C>G (p.Arg2627Gly)
c.7525C>G (p.Arg2509Gly)
c.5422C>G (p.Arg1808Gly)
n.8372C>G
c.8008C>G (p.Arg2670Gly)
c.7204C>G (p.Arg2402Gly)
c.7009C>G (p.Arg2337Gly)
n.8366C>G
n.8312C>G
n.8421C>G
5g.37153916G=CA1539651342CPLANE1n.1196C=
c.8197C= (p.Arg2733=)
c.8035C= (p.Arg2679=)
c.5209C= (p.Arg1737=)
n.439C=
n.488C=
c.1311C=
c.5233C= (p.Arg1745=)
n.449C=
c.8194C= (p.Arg2732=)
c.8086C= (p.Arg2696=)
c.8068C= (p.Arg2690=)
c.4840C= (p.Arg1614=)
c.2770C= (p.Arg924=)
c.8143C= (p.Arg2715=)
c.8089C= (p.Arg2697=)
c.7879C= (p.Arg2627=)
c.7525C= (p.Arg2509=)
c.5422C= (p.Arg1808=)
n.8372C=
c.8008C= (p.Arg2670=)
c.7204C= (p.Arg2402=)
c.7009C= (p.Arg2337=)
n.8366C=
n.8312C=
n.8421C=
5g.37153916G>TCA444096747CPLANE1n.1196C>A
c.8197C>A (p.Arg2733=)
c.8035C>A (p.Arg2679=)
c.5209C>A (p.Arg1737=)
n.439C>A
n.488C>A
c.1311C>A
c.5233C>A (p.Arg1745=)
n.449C>A
c.8194C>A (p.Arg2732=)
c.8086C>A (p.Arg2696=)
c.8068C>A (p.Arg2690=)
c.4840C>A (p.Arg1614=)
c.2770C>A (p.Arg924=)
c.8143C>A (p.Arg2715=)
c.8089C>A (p.Arg2697=)
c.7879C>A (p.Arg2627=)
c.7525C>A (p.Arg2509=)
c.5422C>A (p.Arg1808=)
n.8372C>A
c.8008C>A (p.Arg2670=)
c.7204C>A (p.Arg2402=)
c.7009C>A (p.Arg2337=)
n.8366C>A
n.8312C>A
n.8421C>A
5g.37153917T>ACA359474161CPLANE1n.1195A>T
c.8196A>T (p.Lys2732Asn)
c.8034A>T (p.Lys2678Asn)
c.5208A>T (p.Lys1736Asn)
n.438A>T
n.487A>T
c.1310A>T
c.5232A>T (p.Lys1744Asn)
n.448A>T
c.8193A>T (p.Lys2731Asn)
c.8085A>T (p.Lys2695Asn)
c.8067A>T (p.Lys2689Asn)
c.4839A>T (p.Lys1613Asn)
c.2769A>T (p.Lys923Asn)
c.8142A>T (p.Lys2714Asn)
c.8088A>T (p.Lys2696Asn)
c.7878A>T (p.Lys2626Asn)
c.7524A>T (p.Lys2508Asn)
c.5421A>T (p.Lys1807Asn)
n.8371A>T
c.8007A>T (p.Lys2669Asn)
c.7203A>T (p.Lys2401Asn)
c.7008A>T (p.Lys2336Asn)
n.8365A>T
n.8311A>T
n.8420A>T
5g.37153917T>CCA444096748CPLANE1n.1195A>G
c.8196A>G (p.Lys2732=)
c.8034A>G (p.Lys2678=)
c.5208A>G (p.Lys1736=)
n.438A>G
n.487A>G
c.1310A>G
c.5232A>G (p.Lys1744=)
n.448A>G
c.8193A>G (p.Lys2731=)
c.8085A>G (p.Lys2695=)
c.8067A>G (p.Lys2689=)
c.4839A>G (p.Lys1613=)
c.2769A>G (p.Lys923=)
c.8142A>G (p.Lys2714=)
c.8088A>G (p.Lys2696=)
c.7878A>G (p.Lys2626=)
c.7524A>G (p.Lys2508=)
c.5421A>G (p.Lys1807=)
n.8371A>G
c.8007A>G (p.Lys2669=)
c.7203A>G (p.Lys2401=)
c.7008A>G (p.Lys2336=)
n.8365A>G
n.8311A>G
n.8420A>G
 gnomAD v4
5g.37153917T>GCA359474163CPLANE1n.1195A>C
c.8196A>C (p.Lys2732Asn)
c.8034A>C (p.Lys2678Asn)
c.5208A>C (p.Lys1736Asn)
n.438A>C
n.487A>C
c.1310A>C
c.5232A>C (p.Lys1744Asn)
n.448A>C
c.8193A>C (p.Lys2731Asn)
c.8085A>C (p.Lys2695Asn)
c.8067A>C (p.Lys2689Asn)
c.4839A>C (p.Lys1613Asn)
c.2769A>C (p.Lys923Asn)
c.8142A>C (p.Lys2714Asn)
c.8088A>C (p.Lys2696Asn)
c.7878A>C (p.Lys2626Asn)
c.7524A>C (p.Lys2508Asn)
c.5421A>C (p.Lys1807Asn)
n.8371A>C
c.8007A>C (p.Lys2669Asn)
c.7203A>C (p.Lys2401Asn)
c.7008A>C (p.Lys2336Asn)
n.8365A>C
n.8311A>C
n.8420A>C
5g.37153918T>ACA359474164CPLANE1n.1194A>T
c.8195A>T (p.Lys2732Ile)
c.8033A>T (p.Lys2678Ile)
c.5207A>T (p.Lys1736Ile)
n.437A>T
n.486A>T
c.1309A>T
c.5231A>T (p.Lys1744Ile)
n.447A>T
c.8192A>T (p.Lys2731Ile)
c.8084A>T (p.Lys2695Ile)
c.8066A>T (p.Lys2689Ile)
c.4838A>T (p.Lys1613Ile)
c.2768A>T (p.Lys923Ile)
c.8141A>T (p.Lys2714Ile)
c.8087A>T (p.Lys2696Ile)
c.7877A>T (p.Lys2626Ile)
c.7523A>T (p.Lys2508Ile)
c.5420A>T (p.Lys1807Ile)
n.8370A>T
c.8006A>T (p.Lys2669Ile)
c.7202A>T (p.Lys2401Ile)
c.7007A>T (p.Lys2336Ile)
n.8364A>T
n.8310A>T
n.8419A>T
5g.37153918T>CCA359474166CPLANE1n.1194A>G
c.8195A>G (p.Lys2732Arg)
c.8033A>G (p.Lys2678Arg)
c.5207A>G (p.Lys1736Arg)
n.437A>G
n.486A>G
c.1309A>G
c.5231A>G (p.Lys1744Arg)
n.447A>G
c.8192A>G (p.Lys2731Arg)
c.8084A>G (p.Lys2695Arg)
c.8066A>G (p.Lys2689Arg)
c.4838A>G (p.Lys1613Arg)
c.2768A>G (p.Lys923Arg)
c.8141A>G (p.Lys2714Arg)
c.8087A>G (p.Lys2696Arg)
c.7877A>G (p.Lys2626Arg)
c.7523A>G (p.Lys2508Arg)
c.5420A>G (p.Lys1807Arg)
n.8370A>G
c.8006A>G (p.Lys2669Arg)
c.7202A>G (p.Lys2401Arg)
c.7007A>G (p.Lys2336Arg)
n.8364A>G
n.8310A>G
n.8419A>G
5g.37153918T>GCA359474168CPLANE1n.1194A>C
c.8195A>C (p.Lys2732Thr)
c.8033A>C (p.Lys2678Thr)
c.5207A>C (p.Lys1736Thr)
n.437A>C
n.486A>C
c.1309A>C
c.5231A>C (p.Lys1744Thr)
n.447A>C
c.8192A>C (p.Lys2731Thr)
c.8084A>C (p.Lys2695Thr)
c.8066A>C (p.Lys2689Thr)
c.4838A>C (p.Lys1613Thr)
c.2768A>C (p.Lys923Thr)
c.8141A>C (p.Lys2714Thr)
c.8087A>C (p.Lys2696Thr)
c.7877A>C (p.Lys2626Thr)
c.7523A>C (p.Lys2508Thr)
c.5420A>C (p.Lys1807Thr)
n.8370A>C
c.8006A>C (p.Lys2669Thr)
c.7202A>C (p.Lys2401Thr)
c.7007A>C (p.Lys2336Thr)
n.8364A>C
n.8310A>C
n.8419A>C
5g.37153919T>ACA359474171CPLANE1n.1193A>T
c.8194A>T (p.Lys2732Ter)
c.8032A>T (p.Lys2678Ter)
c.5206A>T (p.Lys1736Ter)
n.436A>T
n.485A>T
c.1308A>T
c.5230A>T (p.Lys1744Ter)
n.446A>T
c.8191A>T (p.Lys2731Ter)
c.8083A>T (p.Lys2695Ter)
c.8065A>T (p.Lys2689Ter)
c.4837A>T (p.Lys1613Ter)
c.2767A>T (p.Lys923Ter)
c.8140A>T (p.Lys2714Ter)
c.8086A>T (p.Lys2696Ter)
c.7876A>T (p.Lys2626Ter)
c.7522A>T (p.Lys2508Ter)
c.5419A>T (p.Lys1807Ter)
n.8369A>T
c.8005A>T (p.Lys2669Ter)
c.7201A>T (p.Lys2401Ter)
c.7006A>T (p.Lys2336Ter)
n.8363A>T
n.8309A>T
n.8418A>T
5g.37153919T>CCA359474170CPLANE1n.1193A>G
c.8194A>G (p.Lys2732Glu)
c.8032A>G (p.Lys2678Glu)
c.5206A>G (p.Lys1736Glu)
n.436A>G
n.485A>G
c.1308A>G
c.5230A>G (p.Lys1744Glu)
n.446A>G
c.8191A>G (p.Lys2731Glu)
c.8083A>G (p.Lys2695Glu)
c.8065A>G (p.Lys2689Glu)
c.4837A>G (p.Lys1613Glu)
c.2767A>G (p.Lys923Glu)
c.8140A>G (p.Lys2714Glu)
c.8086A>G (p.Lys2696Glu)
c.7876A>G (p.Lys2626Glu)
c.7522A>G (p.Lys2508Glu)
c.5419A>G (p.Lys1807Glu)
n.8369A>G
c.8005A>G (p.Lys2669Glu)
c.7201A>G (p.Lys2401Glu)
c.7006A>G (p.Lys2336Glu)
n.8363A>G
n.8309A>G
n.8418A>G
 gnomAD v4
5g.37153919T>GCA3237847CPLANE1n.1193A>C
c.8194A>C (p.Lys2732Gln)
c.8032A>C (p.Lys2678Gln)
c.5206A>C (p.Lys1736Gln)
n.436A>C
n.485A>C
c.1308A>C
c.5230A>C (p.Lys1744Gln)
n.446A>C
c.8191A>C (p.Lys2731Gln)
c.8083A>C (p.Lys2695Gln)
c.8065A>C (p.Lys2689Gln)
c.4837A>C (p.Lys1613Gln)
c.2767A>C (p.Lys923Gln)
c.8140A>C (p.Lys2714Gln)
c.8086A>C (p.Lys2696Gln)
c.7876A>C (p.Lys2626Gln)
c.7522A>C (p.Lys2508Gln)
c.5419A>C (p.Lys1807Gln)
n.8369A>C
c.8005A>C (p.Lys2669Gln)
c.7201A>C (p.Lys2401Gln)
c.7006A>C (p.Lys2336Gln)
n.8363A>C
n.8309A>C
n.8418A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37153919T=CA1539651352CPLANE1n.1193A=
c.8194A= (p.Lys2732=)
c.8032A= (p.Lys2678=)
c.5206A= (p.Lys1736=)
n.436A=
n.485A=
c.1308A=
c.5230A= (p.Lys1744=)
n.446A=
c.8191A= (p.Lys2731=)
c.8083A= (p.Lys2695=)
c.8065A= (p.Lys2689=)
c.4837A= (p.Lys1613=)
c.2767A= (p.Lys923=)
c.8140A= (p.Lys2714=)
c.8086A= (p.Lys2696=)
c.7876A= (p.Lys2626=)
c.7522A= (p.Lys2508=)
c.5419A= (p.Lys1807=)
n.8369A=
c.8005A= (p.Lys2669=)
c.7201A= (p.Lys2401=)
c.7006A= (p.Lys2336=)
n.8363A=
n.8309A=
n.8418A=
5g.37153920C>ACA359474173CPLANE1n.1192G>T
c.8193G>T (p.Trp2731Cys)
c.8031G>T (p.Trp2677Cys)
c.5205G>T (p.Trp1735Cys)
n.435G>T
n.484G>T
c.1307G>T
c.5229G>T (p.Trp1743Cys)
n.445G>T
c.8190G>T (p.Trp2730Cys)
c.8082G>T (p.Trp2694Cys)
c.8064G>T (p.Trp2688Cys)
c.4836G>T (p.Trp1612Cys)
c.2766G>T (p.Trp922Cys)
c.8139G>T (p.Trp2713Cys)
c.8085G>T (p.Trp2695Cys)
c.7875G>T (p.Trp2625Cys)
c.7521G>T (p.Trp2507Cys)
c.5418G>T (p.Trp1806Cys)
n.8368G>T
c.8004G>T (p.Trp2668Cys)
c.7200G>T (p.Trp2400Cys)
c.7005G>T (p.Trp2335Cys)
n.8362G>T
n.8308G>T
n.8417G>T
5g.37153920C>GCA359474175CPLANE1n.1192G>C
c.8193G>C (p.Trp2731Cys)
c.8031G>C (p.Trp2677Cys)
c.5205G>C (p.Trp1735Cys)
n.435G>C
n.484G>C
c.1307G>C
c.5229G>C (p.Trp1743Cys)
n.445G>C
c.8190G>C (p.Trp2730Cys)
c.8082G>C (p.Trp2694Cys)
c.8064G>C (p.Trp2688Cys)
c.4836G>C (p.Trp1612Cys)
c.2766G>C (p.Trp922Cys)
c.8139G>C (p.Trp2713Cys)
c.8085G>C (p.Trp2695Cys)
c.7875G>C (p.Trp2625Cys)
c.7521G>C (p.Trp2507Cys)
c.5418G>C (p.Trp1806Cys)
n.8368G>C
c.8004G>C (p.Trp2668Cys)
c.7200G>C (p.Trp2400Cys)
c.7005G>C (p.Trp2335Cys)
n.8362G>C
n.8308G>C
n.8417G>C
5g.37153920C>TCA359474176CPLANE1n.1192G>A
c.8193G>A (p.Trp2731Ter)
c.8031G>A (p.Trp2677Ter)
c.5205G>A (p.Trp1735Ter)
n.435G>A
n.484G>A
c.1307G>A
c.5229G>A (p.Trp1743Ter)
n.445G>A
c.8190G>A (p.Trp2730Ter)
c.8082G>A (p.Trp2694Ter)
c.8064G>A (p.Trp2688Ter)
c.4836G>A (p.Trp1612Ter)
c.2766G>A (p.Trp922Ter)
c.8139G>A (p.Trp2713Ter)
c.8085G>A (p.Trp2695Ter)
c.7875G>A (p.Trp2625Ter)
c.7521G>A (p.Trp2507Ter)
c.5418G>A (p.Trp1806Ter)
n.8368G>A
c.8004G>A (p.Trp2668Ter)
c.7200G>A (p.Trp2400Ter)
c.7005G>A (p.Trp2335Ter)
n.8362G>A
n.8308G>A
n.8417G>A
5g.37153921C>ACA359474178CPLANE1n.1191G>T
c.8192G>T (p.Trp2731Leu)
c.8030G>T (p.Trp2677Leu)
c.5204G>T (p.Trp1735Leu)
n.434G>T
n.483G>T
c.1306G>T
c.5228G>T (p.Trp1743Leu)
n.444G>T
c.8189G>T (p.Trp2730Leu)
c.8081G>T (p.Trp2694Leu)
c.8063G>T (p.Trp2688Leu)
c.4835G>T (p.Trp1612Leu)
c.2765G>T (p.Trp922Leu)
c.8138G>T (p.Trp2713Leu)
c.8084G>T (p.Trp2695Leu)
c.7874G>T (p.Trp2625Leu)
c.7520G>T (p.Trp2507Leu)
c.5417G>T (p.Trp1806Leu)
n.8367G>T
c.8003G>T (p.Trp2668Leu)
c.7199G>T (p.Trp2400Leu)
c.7004G>T (p.Trp2335Leu)
n.8361G>T
n.8307G>T
n.8416G>T
5g.37153921C>GCA359474180CPLANE1n.1191G>C
c.8192G>C (p.Trp2731Ser)
c.8030G>C (p.Trp2677Ser)
c.5204G>C (p.Trp1735Ser)
n.434G>C
n.483G>C
c.1306G>C
c.5228G>C (p.Trp1743Ser)
n.444G>C
c.8189G>C (p.Trp2730Ser)
c.8081G>C (p.Trp2694Ser)
c.8063G>C (p.Trp2688Ser)
c.4835G>C (p.Trp1612Ser)
c.2765G>C (p.Trp922Ser)
c.8138G>C (p.Trp2713Ser)
c.8084G>C (p.Trp2695Ser)
c.7874G>C (p.Trp2625Ser)
c.7520G>C (p.Trp2507Ser)
c.5417G>C (p.Trp1806Ser)
n.8367G>C
c.8003G>C (p.Trp2668Ser)
c.7199G>C (p.Trp2400Ser)
c.7004G>C (p.Trp2335Ser)
n.8361G>C
n.8307G>C
n.8416G>C
5g.37153921C>TCA359474181CPLANE1n.1191G>A
c.8192G>A (p.Trp2731Ter)
c.8030G>A (p.Trp2677Ter)
c.5204G>A (p.Trp1735Ter)
n.434G>A
n.483G>A
c.1306G>A
c.5228G>A (p.Trp1743Ter)
n.444G>A
c.8189G>A (p.Trp2730Ter)
c.8081G>A (p.Trp2694Ter)
c.8063G>A (p.Trp2688Ter)
c.4835G>A (p.Trp1612Ter)
c.2765G>A (p.Trp922Ter)
c.8138G>A (p.Trp2713Ter)
c.8084G>A (p.Trp2695Ter)
c.7874G>A (p.Trp2625Ter)
c.7520G>A (p.Trp2507Ter)
c.5417G>A (p.Trp1806Ter)
n.8367G>A
c.8003G>A (p.Trp2668Ter)
c.7199G>A (p.Trp2400Ter)
c.7004G>A (p.Trp2335Ter)
n.8361G>A
n.8307G>A
n.8416G>A
5g.37153922A>CCA359474183CPLANE1n.1190T>G
c.8191T>G (p.Trp2731Gly)
c.8029T>G (p.Trp2677Gly)
c.5203T>G (p.Trp1735Gly)
n.433T>G
n.482T>G
c.1305T>G
c.5227T>G (p.Trp1743Gly)
n.443T>G
c.8188T>G (p.Trp2730Gly)
c.8080T>G (p.Trp2694Gly)
c.8062T>G (p.Trp2688Gly)
c.4834T>G (p.Trp1612Gly)
c.2764T>G (p.Trp922Gly)
c.8137T>G (p.Trp2713Gly)
c.8083T>G (p.Trp2695Gly)
c.7873T>G (p.Trp2625Gly)
c.7519T>G (p.Trp2507Gly)
c.5416T>G (p.Trp1806Gly)
n.8366T>G
c.8002T>G (p.Trp2668Gly)
c.7198T>G (p.Trp2400Gly)
c.7003T>G (p.Trp2335Gly)
n.8360T>G
n.8306T>G
n.8415T>G
5g.37153922A>GCA359474185CPLANE1n.1190T>C
c.8191T>C (p.Trp2731Arg)
c.8029T>C (p.Trp2677Arg)
c.5203T>C (p.Trp1735Arg)
n.433T>C
n.482T>C
c.1305T>C
c.5227T>C (p.Trp1743Arg)
n.443T>C
c.8188T>C (p.Trp2730Arg)
c.8080T>C (p.Trp2694Arg)
c.8062T>C (p.Trp2688Arg)
c.4834T>C (p.Trp1612Arg)
c.2764T>C (p.Trp922Arg)
c.8137T>C (p.Trp2713Arg)
c.8083T>C (p.Trp2695Arg)
c.7873T>C (p.Trp2625Arg)
c.7519T>C (p.Trp2507Arg)
c.5416T>C (p.Trp1806Arg)
n.8366T>C
c.8002T>C (p.Trp2668Arg)
c.7198T>C (p.Trp2400Arg)
c.7003T>C (p.Trp2335Arg)
n.8360T>C
n.8306T>C
n.8415T>C
5g.37153922A>TCA359474184CPLANE1n.1190T>A
c.8191T>A (p.Trp2731Arg)
c.8029T>A (p.Trp2677Arg)
c.5203T>A (p.Trp1735Arg)
n.433T>A
n.482T>A
c.1305T>A
c.5227T>A (p.Trp1743Arg)
n.443T>A
c.8188T>A (p.Trp2730Arg)
c.8080T>A (p.Trp2694Arg)
c.8062T>A (p.Trp2688Arg)
c.4834T>A (p.Trp1612Arg)
c.2764T>A (p.Trp922Arg)
c.8137T>A (p.Trp2713Arg)
c.8083T>A (p.Trp2695Arg)
c.7873T>A (p.Trp2625Arg)
c.7519T>A (p.Trp2507Arg)
c.5416T>A (p.Trp1806Arg)
n.8366T>A
c.8002T>A (p.Trp2668Arg)
c.7198T>A (p.Trp2400Arg)
c.7003T>A (p.Trp2335Arg)
n.8360T>A
n.8306T>A
n.8415T>A
5g.37153923C>ACA359474187CPLANE1n.1189G>T
c.8190G>T (p.Leu2730Phe)
c.8028G>T (p.Leu2676Phe)
c.5202G>T (p.Leu1734Phe)
n.432G>T
n.481G>T
c.1304G>T
c.5226G>T (p.Leu1742Phe)
n.442G>T
c.8187G>T (p.Leu2729Phe)
c.8079G>T (p.Leu2693Phe)
c.8061G>T (p.Leu2687Phe)
c.4833G>T (p.Leu1611Phe)
c.2763G>T (p.Leu921Phe)
c.8136G>T (p.Leu2712Phe)
c.8082G>T (p.Leu2694Phe)
c.7872G>T (p.Leu2624Phe)
c.7518G>T (p.Leu2506Phe)
c.5415G>T (p.Leu1805Phe)
n.8365G>T
c.8001G>T (p.Leu2667Phe)
c.7197G>T (p.Leu2399Phe)
c.7002G>T (p.Leu2334Phe)
n.8359G>T
n.8305G>T
n.8414G>T
5g.37153923C>GCA359474189CPLANE1n.1189G>C
c.8190G>C (p.Leu2730Phe)
c.8028G>C (p.Leu2676Phe)
c.5202G>C (p.Leu1734Phe)
n.432G>C
n.481G>C
c.1304G>C
c.5226G>C (p.Leu1742Phe)
n.442G>C
c.8187G>C (p.Leu2729Phe)
c.8079G>C (p.Leu2693Phe)
c.8061G>C (p.Leu2687Phe)
c.4833G>C (p.Leu1611Phe)
c.2763G>C (p.Leu921Phe)
c.8136G>C (p.Leu2712Phe)
c.8082G>C (p.Leu2694Phe)
c.7872G>C (p.Leu2624Phe)
c.7518G>C (p.Leu2506Phe)
c.5415G>C (p.Leu1805Phe)
n.8365G>C
c.8001G>C (p.Leu2667Phe)
c.7197G>C (p.Leu2399Phe)
c.7002G>C (p.Leu2334Phe)
n.8359G>C
n.8305G>C
n.8414G>C
5g.37153923C>TCA444096749CPLANE1n.1189G>A
c.8190G>A (p.Leu2730=)
c.8028G>A (p.Leu2676=)
c.5202G>A (p.Leu1734=)
n.432G>A
n.481G>A
c.1304G>A
c.5226G>A (p.Leu1742=)
n.442G>A
c.8187G>A (p.Leu2729=)
c.8079G>A (p.Leu2693=)
c.8061G>A (p.Leu2687=)
c.4833G>A (p.Leu1611=)
c.2763G>A (p.Leu921=)
c.8136G>A (p.Leu2712=)
c.8082G>A (p.Leu2694=)
c.7872G>A (p.Leu2624=)
c.7518G>A (p.Leu2506=)
c.5415G>A (p.Leu1805=)
n.8365G>A
c.8001G>A (p.Leu2667=)
c.7197G>A (p.Leu2399=)
c.7002G>A (p.Leu2334=)
n.8359G>A
n.8305G>A
n.8414G>A
5g.37153924A>CCA359474191CPLANE1n.1188T>G
c.8189T>G (p.Leu2730Trp)
c.8027T>G (p.Leu2676Trp)
c.5201T>G (p.Leu1734Trp)
n.431T>G
n.480T>G
c.1303T>G
c.5225T>G (p.Leu1742Trp)
n.441T>G
c.8186T>G (p.Leu2729Trp)
c.8078T>G (p.Leu2693Trp)
c.8060T>G (p.Leu2687Trp)
c.4832T>G (p.Leu1611Trp)
c.2762T>G (p.Leu921Trp)
c.8135T>G (p.Leu2712Trp)
c.8081T>G (p.Leu2694Trp)
c.7871T>G (p.Leu2624Trp)
c.7517T>G (p.Leu2506Trp)
c.5414T>G (p.Leu1805Trp)
n.8364T>G
c.8000T>G (p.Leu2667Trp)
c.7196T>G (p.Leu2399Trp)
c.7001T>G (p.Leu2334Trp)
n.8358T>G
n.8304T>G
n.8413T>G
5g.37153924A>GCA359474192CPLANE1n.1188T>C
c.8189T>C (p.Leu2730Ser)
c.8027T>C (p.Leu2676Ser)
c.5201T>C (p.Leu1734Ser)
n.431T>C
n.480T>C
c.1303T>C
c.5225T>C (p.Leu1742Ser)
n.441T>C
c.8186T>C (p.Leu2729Ser)
c.8078T>C (p.Leu2693Ser)
c.8060T>C (p.Leu2687Ser)
c.4832T>C (p.Leu1611Ser)
c.2762T>C (p.Leu921Ser)
c.8135T>C (p.Leu2712Ser)
c.8081T>C (p.Leu2694Ser)
c.7871T>C (p.Leu2624Ser)
c.7517T>C (p.Leu2506Ser)
c.5414T>C (p.Leu1805Ser)
n.8364T>C
c.8000T>C (p.Leu2667Ser)
c.7196T>C (p.Leu2399Ser)
c.7001T>C (p.Leu2334Ser)
n.8358T>C
n.8304T>C
n.8413T>C
5g.37153924A>TCA359474194CPLANE1n.1188T>A
c.8189T>A (p.Leu2730Ter)
c.8027T>A (p.Leu2676Ter)
c.5201T>A (p.Leu1734Ter)
n.431T>A
n.480T>A
c.1303T>A
c.5225T>A (p.Leu1742Ter)
n.441T>A
c.8186T>A (p.Leu2729Ter)
c.8078T>A (p.Leu2693Ter)
c.8060T>A (p.Leu2687Ter)
c.4832T>A (p.Leu1611Ter)
c.2762T>A (p.Leu921Ter)
c.8135T>A (p.Leu2712Ter)
c.8081T>A (p.Leu2694Ter)
c.7871T>A (p.Leu2624Ter)
c.7517T>A (p.Leu2506Ter)
c.5414T>A (p.Leu1805Ter)
n.8364T>A
c.8000T>A (p.Leu2667Ter)
c.7196T>A (p.Leu2399Ter)
c.7001T>A (p.Leu2334Ter)
n.8358T>A
n.8304T>A
n.8413T>A
5g.37153925A=CA1539651357CPLANE1n.1187T=
c.8188T= (p.Leu2730=)
c.8026T= (p.Leu2676=)
c.5200T= (p.Leu1734=)
n.430T=
n.479T=
c.1302T=
c.5224T= (p.Leu1742=)
n.440T=
c.8185T= (p.Leu2729=)
c.8077T= (p.Leu2693=)
c.8059T= (p.Leu2687=)
c.4831T= (p.Leu1611=)
c.2761T= (p.Leu921=)
c.8134T= (p.Leu2712=)
c.8080T= (p.Leu2694=)
c.7870T= (p.Leu2624=)
c.7516T= (p.Leu2506=)
c.5413T= (p.Leu1805=)
n.8363T=
c.7999T= (p.Leu2667=)
c.7195T= (p.Leu2399=)
c.7000T= (p.Leu2334=)
n.8357T=
n.8303T=
n.8412T=
5g.37153925A>CCA359474196CPLANE1n.1187T>G
c.8188T>G (p.Leu2730Val)
c.8026T>G (p.Leu2676Val)
c.5200T>G (p.Leu1734Val)
n.430T>G
n.479T>G
c.1302T>G
c.5224T>G (p.Leu1742Val)
n.440T>G
c.8185T>G (p.Leu2729Val)
c.8077T>G (p.Leu2693Val)
c.8059T>G (p.Leu2687Val)
c.4831T>G (p.Leu1611Val)
c.2761T>G (p.Leu921Val)
c.8134T>G (p.Leu2712Val)
c.8080T>G (p.Leu2694Val)
c.7870T>G (p.Leu2624Val)
c.7516T>G (p.Leu2506Val)
c.5413T>G (p.Leu1805Val)
n.8363T>G
c.7999T>G (p.Leu2667Val)
c.7195T>G (p.Leu2399Val)
c.7000T>G (p.Leu2334Val)
n.8357T>G
n.8303T>G
n.8412T>G
5g.37153925A>GCA444096750CPLANE1n.1187T>C
c.8188T>C (p.Leu2730=)
c.8026T>C (p.Leu2676=)
c.5200T>C (p.Leu1734=)
n.430T>C
n.479T>C
c.1302T>C
c.5224T>C (p.Leu1742=)
n.440T>C
c.8185T>C (p.Leu2729=)
c.8077T>C (p.Leu2693=)
c.8059T>C (p.Leu2687=)
c.4831T>C (p.Leu1611=)
c.2761T>C (p.Leu921=)
c.8134T>C (p.Leu2712=)
c.8080T>C (p.Leu2694=)
c.7870T>C (p.Leu2624=)
c.7516T>C (p.Leu2506=)
c.5413T>C (p.Leu1805=)
n.8363T>C
c.7999T>C (p.Leu2667=)
c.7195T>C (p.Leu2399=)
c.7000T>C (p.Leu2334=)
n.8357T>C
n.8303T>C
n.8412T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.37153925A>TCA359474197CPLANE1n.1187T>A
c.8188T>A (p.Leu2730Met)
c.8026T>A (p.Leu2676Met)
c.5200T>A (p.Leu1734Met)
n.430T>A
n.479T>A
c.1302T>A
c.5224T>A (p.Leu1742Met)
n.440T>A
c.8185T>A (p.Leu2729Met)
c.8077T>A (p.Leu2693Met)
c.8059T>A (p.Leu2687Met)
c.4831T>A (p.Leu1611Met)
c.2761T>A (p.Leu921Met)
c.8134T>A (p.Leu2712Met)
c.8080T>A (p.Leu2694Met)
c.7870T>A (p.Leu2624Met)
c.7516T>A (p.Leu2506Met)
c.5413T>A (p.Leu1805Met)
n.8363T>A
c.7999T>A (p.Leu2667Met)
c.7195T>A (p.Leu2399Met)
c.7000T>A (p.Leu2334Met)
n.8357T>A
n.8303T>A
n.8412T>A
5g.37153928_37153931delCA2673584242CPLANE1n.1184_1187del
c.8185_8188del (p.Leu2729CysfsTer22)
c.8023_8026del (p.Leu2675CysfsTer22)
c.5197_5200del (p.Leu1733CysfsTer22)
n.427_430del
n.476_479del
c.1299_1302del
c.5221_5224del (p.Leu1741CysfsTer22)
n.437_440del
c.8182_8185del (p.Leu2728CysfsTer22)
c.8074_8077del (p.Leu2692CysfsTer22)
c.8056_8059del (p.Leu2686CysfsTer22)
c.4828_4831del (p.Leu1610CysfsTer22)
c.2758_2761del (p.Leu920CysfsTer22)
c.8131_8134del (p.Leu2711CysfsTer22)
c.8077_8080del (p.Leu2693CysfsTer22)
c.7867_7870del (p.Leu2623CysfsTer22)
c.7513_7516del (p.Leu2505CysfsTer22)
c.5410_5413del (p.Leu1804CysfsTer22)
n.8360_8363del
c.7996_7999del (p.Leu2666CysfsTer22)
c.7192_7195del (p.Leu2398CysfsTer22)
c.6997_7000del (p.Leu2333CysfsTer22)
n.8354_8357del
n.8300_8303del
n.8409_8412del
 gnomAD v4
5g.37153926T>ACA444096751CPLANE1n.1186A>T
c.8187A>T (p.Leu2729=)
c.8025A>T (p.Leu2675=)
c.5199A>T (p.Leu1733=)
n.429A>T
n.478A>T
c.1301A>T
c.5223A>T (p.Leu1741=)
n.439A>T
c.8184A>T (p.Leu2728=)
c.8076A>T (p.Leu2692=)
c.8058A>T (p.Leu2686=)
c.4830A>T (p.Leu1610=)
c.2760A>T (p.Leu920=)
c.8133A>T (p.Leu2711=)
c.8079A>T (p.Leu2693=)
c.7869A>T (p.Leu2623=)
c.7515A>T (p.Leu2505=)
c.5412A>T (p.Leu1804=)
n.8362A>T
c.7998A>T (p.Leu2666=)
c.7194A>T (p.Leu2398=)
c.6999A>T (p.Leu2333=)
n.8356A>T
n.8302A>T
n.8411A>T
5g.37153926T>CCA3237848CPLANE1n.1186A>G
c.8187A>G (p.Leu2729=)
c.8025A>G (p.Leu2675=)
c.5199A>G (p.Leu1733=)
n.429A>G
n.478A>G
c.1301A>G
c.5223A>G (p.Leu1741=)
n.439A>G
c.8184A>G (p.Leu2728=)
c.8076A>G (p.Leu2692=)
c.8058A>G (p.Leu2686=)
c.4830A>G (p.Leu1610=)
c.2760A>G (p.Leu920=)
c.8133A>G (p.Leu2711=)
c.8079A>G (p.Leu2693=)
c.7869A>G (p.Leu2623=)
c.7515A>G (p.Leu2505=)
c.5412A>G (p.Leu1804=)
n.8362A>G
c.7998A>G (p.Leu2666=)
c.7194A>G (p.Leu2398=)
c.6999A>G (p.Leu2333=)
n.8356A>G
n.8302A>G
n.8411A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37153926T>GCA444096752CPLANE1n.1186A>C
c.8187A>C (p.Leu2729=)
c.8025A>C (p.Leu2675=)
c.5199A>C (p.Leu1733=)
n.429A>C
n.478A>C
c.1301A>C
c.5223A>C (p.Leu1741=)
n.439A>C
c.8184A>C (p.Leu2728=)
c.8076A>C (p.Leu2692=)
c.8058A>C (p.Leu2686=)
c.4830A>C (p.Leu1610=)
c.2760A>C (p.Leu920=)
c.8133A>C (p.Leu2711=)
c.8079A>C (p.Leu2693=)
c.7869A>C (p.Leu2623=)
c.7515A>C (p.Leu2505=)
c.5412A>C (p.Leu1804=)
n.8362A>C
c.7998A>C (p.Leu2666=)
c.7194A>C (p.Leu2398=)
c.6999A>C (p.Leu2333=)
n.8356A>C
n.8302A>C
n.8411A>C
5g.37153926T=CA1539651363CPLANE1n.1186A=
c.8187A= (p.Leu2729=)
c.8025A= (p.Leu2675=)
c.5199A= (p.Leu1733=)
n.429A=
n.478A=
c.1301A=
c.5223A= (p.Leu1741=)
n.439A=
c.8184A= (p.Leu2728=)
c.8076A= (p.Leu2692=)
c.8058A= (p.Leu2686=)
c.4830A= (p.Leu1610=)
c.2760A= (p.Leu920=)
c.8133A= (p.Leu2711=)
c.8079A= (p.Leu2693=)
c.7869A= (p.Leu2623=)
c.7515A= (p.Leu2505=)
c.5412A= (p.Leu1804=)
n.8362A=
c.7998A= (p.Leu2666=)
c.7194A= (p.Leu2398=)
c.6999A= (p.Leu2333=)
n.8356A=
n.8302A=
n.8411A=
5g.37153927A>CCA359474200CPLANE1n.1185T>G
c.8186T>G (p.Leu2729Arg)
c.8024T>G (p.Leu2675Arg)
c.5198T>G (p.Leu1733Arg)
n.428T>G
n.477T>G
c.1300T>G
c.5222T>G (p.Leu1741Arg)
n.438T>G
c.8183T>G (p.Leu2728Arg)
c.8075T>G (p.Leu2692Arg)
c.8057T>G (p.Leu2686Arg)
c.4829T>G (p.Leu1610Arg)
c.2759T>G (p.Leu920Arg)
c.8132T>G (p.Leu2711Arg)
c.8078T>G (p.Leu2693Arg)
c.7868T>G (p.Leu2623Arg)
c.7514T>G (p.Leu2505Arg)
c.5411T>G (p.Leu1804Arg)
n.8361T>G
c.7997T>G (p.Leu2666Arg)
c.7193T>G (p.Leu2398Arg)
c.6998T>G (p.Leu2333Arg)
n.8355T>G
n.8301T>G
n.8410T>G
5g.37153927A>GCA359474201CPLANE1n.1185T>C
c.8186T>C (p.Leu2729Pro)
c.8024T>C (p.Leu2675Pro)
c.5198T>C (p.Leu1733Pro)
n.428T>C
n.477T>C
c.1300T>C
c.5222T>C (p.Leu1741Pro)
n.438T>C
c.8183T>C (p.Leu2728Pro)
c.8075T>C (p.Leu2692Pro)
c.8057T>C (p.Leu2686Pro)
c.4829T>C (p.Leu1610Pro)
c.2759T>C (p.Leu920Pro)
c.8132T>C (p.Leu2711Pro)
c.8078T>C (p.Leu2693Pro)
c.7868T>C (p.Leu2623Pro)
c.7514T>C (p.Leu2505Pro)
c.5411T>C (p.Leu1804Pro)
n.8361T>C
c.7997T>C (p.Leu2666Pro)
c.7193T>C (p.Leu2398Pro)
c.6998T>C (p.Leu2333Pro)
n.8355T>C
n.8301T>C
n.8410T>C
5g.37153927A>TCA359474203CPLANE1n.1185T>A
c.8186T>A (p.Leu2729Gln)
c.8024T>A (p.Leu2675Gln)
c.5198T>A (p.Leu1733Gln)
n.428T>A
n.477T>A
c.1300T>A
c.5222T>A (p.Leu1741Gln)
n.438T>A
c.8183T>A (p.Leu2728Gln)
c.8075T>A (p.Leu2692Gln)
c.8057T>A (p.Leu2686Gln)
c.4829T>A (p.Leu1610Gln)
c.2759T>A (p.Leu920Gln)
c.8132T>A (p.Leu2711Gln)
c.8078T>A (p.Leu2693Gln)
c.7868T>A (p.Leu2623Gln)
c.7514T>A (p.Leu2505Gln)
c.5411T>A (p.Leu1804Gln)
n.8361T>A
c.7997T>A (p.Leu2666Gln)
c.7193T>A (p.Leu2398Gln)
c.6998T>A (p.Leu2333Gln)
n.8355T>A
n.8301T>A
n.8410T>A

Number of alleles fetched