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

Number of alleles fetched