Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37064641_37064660delinsCCACAAATTGCAAGAGTAGTCA1539590313CPLANE1,NIPBLc.8164_8183delinsCCACAAATTGCAAGAGTAGT (p.Pro2722=)
c.*108_*127delinsCCACAAATTGCAAGAGTAGT (n.*108_*127delinsCCACAAATTGCAAGAGTAGT)
n.2087_2106delinsCCACAAATTGCAAGAGTAGT
c.64_83delinsCCACAAATTGCAAGAGTAGT (p.Pro22=)
c.*618_*637delinsCCACAAATTGCAAGAGTAGT (n.*618_*637delinsCCACAAATTGCAAGAGTAGT)
c.7420_7439delinsCCACAAATTGCAAGAGTAGT (p.Pro2474=)
c.8017_8036delinsCCACAAATTGCAAGAGTAGT (p.Pro2673=)
c.7966_7985delinsCCACAAATTGCAAGAGTAGT (p.Pro2656=)
c.7783_7802delinsCCACAAATTGCAAGAGTAGT (p.Pro2595=)
c.7504_7523delinsCCACAAATTGCAAGAGTAGT (p.Pro2502=)
c.6547_6566delinsCCACAAATTGCAAGAGTAGT (p.Pro2183=)
c.6538_6557delinsCCACAAATTGCAAGAGTAGT (p.Pro2180=)
n.12022_12041delinsACTACTCTTGCAATTTGTGG
5g.37064642_37064660delCA272322CPLANE1,NIPBLc.8165_8183del (p.Pro2722ArgfsTer?)
c.*109_*127del (n.*109_*127del)
n.2088_2106del
c.65_83del (p.Pro22ArgfsTer?)
c.*619_*637del (n.*619_*637del)
c.7421_7439del (p.Pro2474ArgfsTer?)
c.8018_8036del (p.Pro2673ArgfsTer?)
c.7967_7985del (p.Pro2656ArgfsTer?)
c.7784_7802del (p.Pro2595ArgfsTer?)
c.7505_7523del (p.Pro2502ArgfsTer?)
c.6548_6566del (p.Pro2183ArgfsTer?)
c.6539_6557del (p.Pro2180ArgfsTer?)
n.12022_12040del
 ClinVar dbSNP
5g.37064650G>ACA359522413CPLANE1,NIPBLc.8173G>A (p.Ala2725Thr)
c.*117G>A (n.*117G>A)
n.2096G>A
c.73G>A (p.Ala25Thr)
c.*627G>A (n.*627G>A)
c.7429G>A (p.Ala2477Thr)
c.8026G>A (p.Ala2676Thr)
c.7975G>A (p.Ala2659Thr)
c.7792G>A (p.Ala2598Thr)
c.7513G>A (p.Ala2505Thr)
c.6556G>A (p.Ala2186Thr)
c.6547G>A (p.Ala2183Thr)
n.12032C>T
5g.37064650G>CCA272323CPLANE1,NIPBLc.8173G>C (p.Ala2725Pro)
c.*117G>C (n.*117G>C)
n.2096G>C
c.73G>C (p.Ala25Pro)
c.*627G>C (n.*627G>C)
c.7429G>C (p.Ala2477Pro)
c.8026G>C (p.Ala2676Pro)
c.7975G>C (p.Ala2659Pro)
c.7792G>C (p.Ala2598Pro)
c.7513G>C (p.Ala2505Pro)
c.6556G>C (p.Ala2186Pro)
c.6547G>C (p.Ala2183Pro)
n.12032C>G
 ClinVar dbSNP
5g.37064650G=CA1539590358CPLANE1,NIPBLc.8173G= (p.Ala2725=)
c.*117G= (n.*117G=)
n.2096G=
c.73G= (p.Ala25=)
c.*627G= (n.*627G=)
c.7429G= (p.Ala2477=)
c.8026G= (p.Ala2676=)
c.7975G= (p.Ala2659=)
c.7792G= (p.Ala2598=)
c.7513G= (p.Ala2505=)
c.6556G= (p.Ala2186=)
c.6547G= (p.Ala2183=)
n.12032C=
5g.37064650G>TCA359522414CPLANE1,NIPBLc.8173G>T (p.Ala2725Ser)
c.*117G>T (n.*117G>T)
n.2096G>T
c.73G>T (p.Ala25Ser)
c.*627G>T (n.*627G>T)
c.7429G>T (p.Ala2477Ser)
c.8026G>T (p.Ala2676Ser)
c.7975G>T (p.Ala2659Ser)
c.7792G>T (p.Ala2598Ser)
c.7513G>T (p.Ala2505Ser)
c.6556G>T (p.Ala2186Ser)
c.6547G>T (p.Ala2183Ser)
n.12032C>A
5g.37064651C>ACA359522415CPLANE1,NIPBLc.8174C>A (p.Ala2725Glu)
c.*118C>A (n.*118C>A)
n.2097C>A
c.74C>A (p.Ala25Glu)
c.*628C>A (n.*628C>A)
c.7430C>A (p.Ala2477Glu)
c.8027C>A (p.Ala2676Glu)
c.7976C>A (p.Ala2659Glu)
c.7793C>A (p.Ala2598Glu)
c.7514C>A (p.Ala2505Glu)
c.6557C>A (p.Ala2186Glu)
c.6548C>A (p.Ala2183Glu)
n.12031G>T
5g.37064651C>GCA359522416CPLANE1,NIPBLc.8174C>G (p.Ala2725Gly)
c.*118C>G (n.*118C>G)
n.2097C>G
c.74C>G (p.Ala25Gly)
c.*628C>G (n.*628C>G)
c.7430C>G (p.Ala2477Gly)
c.8027C>G (p.Ala2676Gly)
c.7976C>G (p.Ala2659Gly)
c.7793C>G (p.Ala2598Gly)
c.7514C>G (p.Ala2505Gly)
c.6557C>G (p.Ala2186Gly)
c.6548C>G (p.Ala2183Gly)
n.12031G>C
 gnomAD v4
5g.37064651C>TCA359522418CPLANE1,NIPBLc.8174C>T (p.Ala2725Val)
c.*118C>T (n.*118C>T)
n.2097C>T
c.74C>T (p.Ala25Val)
c.*628C>T (n.*628C>T)
c.7430C>T (p.Ala2477Val)
c.8027C>T (p.Ala2676Val)
c.7976C>T (p.Ala2659Val)
c.7793C>T (p.Ala2598Val)
c.7514C>T (p.Ala2505Val)
c.6557C>T (p.Ala2186Val)
c.6548C>T (p.Ala2183Val)
n.12031G>A
5g.37064652A=CA1539590361CPLANE1,NIPBLc.8175A= (p.Ala2725=)
c.*119A= (n.*119A=)
n.2098A=
c.75A= (p.Ala25=)
c.*629A= (n.*629A=)
c.7431A= (p.Ala2477=)
c.8028A= (p.Ala2676=)
c.7977A= (p.Ala2659=)
c.7794A= (p.Ala2598=)
c.7515A= (p.Ala2505=)
c.6558A= (p.Ala2186=)
c.6549A= (p.Ala2183=)
n.12030T=
5g.37064652A>CCA444096490CPLANE1,NIPBLc.8175A>C (p.Ala2725=)
c.*119A>C (n.*119A>C)
n.2098A>C
c.75A>C (p.Ala25=)
c.*629A>C (n.*629A>C)
c.7431A>C (p.Ala2477=)
c.8028A>C (p.Ala2676=)
c.7977A>C (p.Ala2659=)
c.7794A>C (p.Ala2598=)
c.7515A>C (p.Ala2505=)
c.6558A>C (p.Ala2186=)
c.6549A>C (p.Ala2183=)
n.12030T>G
 dbSNP gnomAD v2 gnomAD v4
5g.37064652A>GCA444096491CPLANE1,NIPBLc.8175A>G (p.Ala2725=)
c.*119A>G (n.*119A>G)
n.2098A>G
c.75A>G (p.Ala25=)
c.*629A>G (n.*629A>G)
c.7431A>G (p.Ala2477=)
c.8028A>G (p.Ala2676=)
c.7977A>G (p.Ala2659=)
c.7794A>G (p.Ala2598=)
c.7515A>G (p.Ala2505=)
c.6558A>G (p.Ala2186=)
c.6549A>G (p.Ala2183=)
n.12030T>C
 dbSNP gnomAD v4
5g.37064652A>TCA444096492CPLANE1,NIPBLc.8175A>T (p.Ala2725=)
c.*119A>T (n.*119A>T)
n.2098A>T
c.75A>T (p.Ala25=)
c.*629A>T (n.*629A>T)
c.7431A>T (p.Ala2477=)
c.8028A>T (p.Ala2676=)
c.7977A>T (p.Ala2659=)
c.7794A>T (p.Ala2598=)
c.7515A>T (p.Ala2505=)
c.6558A>T (p.Ala2186=)
c.6549A>T (p.Ala2183=)
n.12030T>A
5g.37064653A>CCA444096493CPLANE1,NIPBLc.8176A>C (p.Arg2726=)
c.*120A>C (n.*120A>C)
n.2099A>C
c.76A>C (p.Arg26=)
c.*630A>C (n.*630A>C)
c.7432A>C (p.Arg2478=)
c.8029A>C (p.Arg2677=)
c.7978A>C (p.Arg2660=)
c.7795A>C (p.Arg2599=)
c.7516A>C (p.Arg2506=)
c.6559A>C (p.Arg2187=)
c.6550A>C (p.Arg2184=)
n.12029T>G
 gnomAD v4
5g.37064653A>GCA359522424CPLANE1,NIPBLc.8176A>G (p.Arg2726Gly)
c.*120A>G (n.*120A>G)
n.2099A>G
c.76A>G (p.Arg26Gly)
c.*630A>G (n.*630A>G)
c.7432A>G (p.Arg2478Gly)
c.8029A>G (p.Arg2677Gly)
c.7978A>G (p.Arg2660Gly)
c.7795A>G (p.Arg2599Gly)
c.7516A>G (p.Arg2506Gly)
c.6559A>G (p.Arg2187Gly)
c.6550A>G (p.Arg2184Gly)
n.12029T>C
5g.37064653A>TCA359522422CPLANE1,NIPBLc.8176A>T (p.Arg2726Ter)
c.*120A>T (n.*120A>T)
n.2099A>T
c.76A>T (p.Arg26Ter)
c.*630A>T (n.*630A>T)
c.7432A>T (p.Arg2478Ter)
c.8029A>T (p.Arg2677Ter)
c.7978A>T (p.Arg2660Ter)
c.7795A>T (p.Arg2599Ter)
c.7516A>T (p.Arg2506Ter)
c.6559A>T (p.Arg2187Ter)
c.6550A>T (p.Arg2184Ter)
n.12029T>A
5g.37064654G>ACA359522426CPLANE1,NIPBLc.8177G>A (p.Arg2726Lys)
c.*121G>A (n.*121G>A)
n.2100G>A
c.77G>A (p.Arg26Lys)
c.*631G>A (n.*631G>A)
c.7433G>A (p.Arg2478Lys)
c.8030G>A (p.Arg2677Lys)
c.7979G>A (p.Arg2660Lys)
c.7796G>A (p.Arg2599Lys)
c.7517G>A (p.Arg2506Lys)
c.6560G>A (p.Arg2187Lys)
c.6551G>A (p.Arg2184Lys)
n.12028C>T
5g.37064654G>CCA359522427CPLANE1,NIPBLc.8177G>C (p.Arg2726Thr)
c.*121G>C (n.*121G>C)
n.2100G>C
c.77G>C (p.Arg26Thr)
c.*631G>C (n.*631G>C)
c.7433G>C (p.Arg2478Thr)
c.8030G>C (p.Arg2677Thr)
c.7979G>C (p.Arg2660Thr)
c.7796G>C (p.Arg2599Thr)
c.7517G>C (p.Arg2506Thr)
c.6560G>C (p.Arg2187Thr)
c.6551G>C (p.Arg2184Thr)
n.12028C>G
5g.37064654G>TCA359522429CPLANE1,NIPBLc.8177G>T (p.Arg2726Ile)
c.*121G>T (n.*121G>T)
n.2100G>T
c.77G>T (p.Arg26Ile)
c.*631G>T (n.*631G>T)
c.7433G>T (p.Arg2478Ile)
c.8030G>T (p.Arg2677Ile)
c.7979G>T (p.Arg2660Ile)
c.7796G>T (p.Arg2599Ile)
c.7517G>T (p.Arg2506Ile)
c.6560G>T (p.Arg2187Ile)
c.6551G>T (p.Arg2184Ile)
n.12028C>A
5g.37064655A>CCA359522430CPLANE1,NIPBLc.8178A>C (p.Arg2726Ser)
c.*122A>C (n.*122A>C)
n.2101A>C
c.78A>C (p.Arg26Ser)
c.*632A>C (n.*632A>C)
c.7434A>C (p.Arg2478Ser)
c.8031A>C (p.Arg2677Ser)
c.7980A>C (p.Arg2660Ser)
c.7797A>C (p.Arg2599Ser)
c.7518A>C (p.Arg2506Ser)
c.6561A>C (p.Arg2187Ser)
c.6552A>C (p.Arg2184Ser)
n.12027T>G
5g.37064655A>GCA444096497CPLANE1,NIPBLc.8178A>G (p.Arg2726=)
c.*122A>G (n.*122A>G)
n.2101A>G
c.78A>G (p.Arg26=)
c.*632A>G (n.*632A>G)
c.7434A>G (p.Arg2478=)
c.8031A>G (p.Arg2677=)
c.7980A>G (p.Arg2660=)
c.7797A>G (p.Arg2599=)
c.7518A>G (p.Arg2506=)
c.6561A>G (p.Arg2187=)
c.6552A>G (p.Arg2184=)
n.12027T>C
5g.37064655A>TCA359522431CPLANE1,NIPBLc.8178A>T (p.Arg2726Ser)
c.*122A>T (n.*122A>T)
n.2101A>T
c.78A>T (p.Arg26Ser)
c.*632A>T (n.*632A>T)
c.7434A>T (p.Arg2478Ser)
c.8031A>T (p.Arg2677Ser)
c.7980A>T (p.Arg2660Ser)
c.7797A>T (p.Arg2599Ser)
c.7518A>T (p.Arg2506Ser)
c.6561A>T (p.Arg2187Ser)
c.6552A>T (p.Arg2184Ser)
n.12027T>A
5g.37064656G>ACA359522434CPLANE1,NIPBLc.8179G>A (p.Val2727Ile)
c.*123G>A (n.*123G>A)
n.2102G>A
c.79G>A (p.Val27Ile)
c.*633G>A (n.*633G>A)
c.7435G>A (p.Val2479Ile)
c.8032G>A (p.Val2678Ile)
c.7981G>A (p.Val2661Ile)
c.7798G>A (p.Val2600Ile)
c.7519G>A (p.Val2507Ile)
c.6562G>A (p.Val2188Ile)
c.6553G>A (p.Val2185Ile)
n.12026C>T
5g.37064656G>CCA359522433CPLANE1,NIPBLc.8179G>C (p.Val2727Leu)
c.*123G>C (n.*123G>C)
n.2102G>C
c.79G>C (p.Val27Leu)
c.*633G>C (n.*633G>C)
c.7435G>C (p.Val2479Leu)
c.8032G>C (p.Val2678Leu)
c.7981G>C (p.Val2661Leu)
c.7798G>C (p.Val2600Leu)
c.7519G>C (p.Val2507Leu)
c.6562G>C (p.Val2188Leu)
c.6553G>C (p.Val2185Leu)
n.12026C>G
5g.37064656G>TCA359522432CPLANE1,NIPBLc.8179G>T (p.Val2727Leu)
c.*123G>T (n.*123G>T)
n.2102G>T
c.79G>T (p.Val27Leu)
c.*633G>T (n.*633G>T)
c.7435G>T (p.Val2479Leu)
c.8032G>T (p.Val2678Leu)
c.7981G>T (p.Val2661Leu)
c.7798G>T (p.Val2600Leu)
c.7519G>T (p.Val2507Leu)
c.6562G>T (p.Val2188Leu)
c.6553G>T (p.Val2185Leu)
n.12026C>A
5g.37064657T>ACA359522436CPLANE1,NIPBLc.8180T>A (p.Val2727Glu)
c.*124T>A (n.*124T>A)
n.2103T>A
c.80T>A (p.Val27Glu)
c.*634T>A (n.*634T>A)
c.7436T>A (p.Val2479Glu)
c.8033T>A (p.Val2678Glu)
c.7982T>A (p.Val2661Glu)
c.7799T>A (p.Val2600Glu)
c.7520T>A (p.Val2507Glu)
c.6563T>A (p.Val2188Glu)
c.6554T>A (p.Val2185Glu)
n.12025A>T
5g.37064657T>CCA359522437CPLANE1,NIPBLc.8180T>C (p.Val2727Ala)
c.*124T>C (n.*124T>C)
n.2103T>C
c.80T>C (p.Val27Ala)
c.*634T>C (n.*634T>C)
c.7436T>C (p.Val2479Ala)
c.8033T>C (p.Val2678Ala)
c.7982T>C (p.Val2661Ala)
c.7799T>C (p.Val2600Ala)
c.7520T>C (p.Val2507Ala)
c.6563T>C (p.Val2188Ala)
c.6554T>C (p.Val2185Ala)
n.12025A>G
5g.37064657T>GCA359522439CPLANE1,NIPBLc.8180T>G (p.Val2727Gly)
c.*124T>G (n.*124T>G)
n.2103T>G
c.80T>G (p.Val27Gly)
c.*634T>G (n.*634T>G)
c.7436T>G (p.Val2479Gly)
c.8033T>G (p.Val2678Gly)
c.7982T>G (p.Val2661Gly)
c.7799T>G (p.Val2600Gly)
c.7520T>G (p.Val2507Gly)
c.6563T>G (p.Val2188Gly)
c.6554T>G (p.Val2185Gly)
n.12025A>C
5g.37064658A=CA1539590364CPLANE1,NIPBLc.8181A= (p.Val2727=)
c.*125A= (n.*125A=)
n.2104A=
c.81A= (p.Val27=)
c.*635A= (n.*635A=)
c.7437A= (p.Val2479=)
c.8034A= (p.Val2678=)
c.7983A= (p.Val2661=)
c.7800A= (p.Val2600=)
c.7521A= (p.Val2507=)
c.6564A= (p.Val2188=)
c.6555A= (p.Val2185=)
n.12024T=
5g.37064658A>CCA444096498CPLANE1,NIPBLc.8181A>C (p.Val2727=)
c.*125A>C (n.*125A>C)
n.2104A>C
c.81A>C (p.Val27=)
c.*635A>C (n.*635A>C)
c.7437A>C (p.Val2479=)
c.8034A>C (p.Val2678=)
c.7983A>C (p.Val2661=)
c.7800A>C (p.Val2600=)
c.7521A>C (p.Val2507=)
c.6564A>C (p.Val2188=)
c.6555A>C (p.Val2185=)
n.12024T>G
 dbSNP gnomAD v3 gnomAD v4
5g.37064658A>GCA444096499CPLANE1,NIPBLc.8181A>G (p.Val2727=)
c.*125A>G (n.*125A>G)
n.2104A>G
c.81A>G (p.Val27=)
c.*635A>G (n.*635A>G)
c.7437A>G (p.Val2479=)
c.8034A>G (p.Val2678=)
c.7983A>G (p.Val2661=)
c.7800A>G (p.Val2600=)
c.7521A>G (p.Val2507=)
c.6564A>G (p.Val2188=)
c.6555A>G (p.Val2185=)
n.12024T>C
5g.37064658A>TCA444096500CPLANE1,NIPBLc.8181A>T (p.Val2727=)
c.*125A>T (n.*125A>T)
n.2104A>T
c.81A>T (p.Val27=)
c.*635A>T (n.*635A>T)
c.7437A>T (p.Val2479=)
c.8034A>T (p.Val2678=)
c.7983A>T (p.Val2661=)
c.7800A>T (p.Val2600=)
c.7521A>T (p.Val2507=)
c.6564A>T (p.Val2188=)
c.6555A>T (p.Val2185=)
n.12024T>A
5g.37064659G>ACA359522442CPLANE1,NIPBLc.8182G>A (p.Val2728Met)
c.*126G>A (n.*126G>A)
n.2105G>A
c.82G>A (p.Val28Met)
c.*636G>A (n.*636G>A)
c.7438G>A (p.Val2480Met)
c.8035G>A (p.Val2679Met)
c.7984G>A (p.Val2662Met)
c.7801G>A (p.Val2601Met)
c.7522G>A (p.Val2508Met)
c.6565G>A (p.Val2189Met)
c.6556G>A (p.Val2186Met)
n.12023C>T
5g.37064659G>CCA359522443CPLANE1,NIPBLc.8182G>C (p.Val2728Leu)
c.*126G>C (n.*126G>C)
n.2105G>C
c.82G>C (p.Val28Leu)
c.*636G>C (n.*636G>C)
c.7438G>C (p.Val2480Leu)
c.8035G>C (p.Val2679Leu)
c.7984G>C (p.Val2662Leu)
c.7801G>C (p.Val2601Leu)
c.7522G>C (p.Val2508Leu)
c.6565G>C (p.Val2189Leu)
c.6556G>C (p.Val2186Leu)
n.12023C>G
5g.37064659G>TCA359522445CPLANE1,NIPBLc.8182G>T (p.Val2728Leu)
c.*126G>T (n.*126G>T)
n.2105G>T
c.82G>T (p.Val28Leu)
c.*636G>T (n.*636G>T)
c.7438G>T (p.Val2480Leu)
c.8035G>T (p.Val2679Leu)
c.7984G>T (p.Val2662Leu)
c.7801G>T (p.Val2601Leu)
c.7522G>T (p.Val2508Leu)
c.6565G>T (p.Val2189Leu)
c.6556G>T (p.Val2186Leu)
n.12023C>A
5g.37064660T>ACA359522446CPLANE1,NIPBLc.8183T>A (p.Val2728Glu)
c.*127T>A (n.*127T>A)
n.2106T>A
c.83T>A (p.Val28Glu)
c.*637T>A (n.*637T>A)
c.7439T>A (p.Val2480Glu)
c.8036T>A (p.Val2679Glu)
c.7985T>A (p.Val2662Glu)
c.7802T>A (p.Val2601Glu)
c.7523T>A (p.Val2508Glu)
c.6566T>A (p.Val2189Glu)
c.6557T>A (p.Val2186Glu)
n.12022A>T
5g.37064660T>CCA359522450CPLANE1,NIPBLc.8183T>C (p.Val2728Ala)
c.*127T>C (n.*127T>C)
n.2106T>C
c.83T>C (p.Val28Ala)
c.*637T>C (n.*637T>C)
c.7439T>C (p.Val2480Ala)
c.8036T>C (p.Val2679Ala)
c.7985T>C (p.Val2662Ala)
c.7802T>C (p.Val2601Ala)
c.7523T>C (p.Val2508Ala)
c.6566T>C (p.Val2189Ala)
c.6557T>C (p.Val2186Ala)
n.12022A>G
5g.37064660T>GCA359522448CPLANE1,NIPBLc.8183T>G (p.Val2728Gly)
c.*127T>G (n.*127T>G)
n.2106T>G
c.83T>G (p.Val28Gly)
c.*637T>G (n.*637T>G)
c.7439T>G (p.Val2480Gly)
c.8036T>G (p.Val2679Gly)
c.7985T>G (p.Val2662Gly)
c.7802T>G (p.Val2601Gly)
c.7523T>G (p.Val2508Gly)
c.6566T>G (p.Val2189Gly)
c.6557T>G (p.Val2186Gly)
n.12022A>C
5g.37064661G>ACA444096503CPLANE1,NIPBLc.8184G>A (p.Val2728=)
c.*128G>A (n.*128G>A)
n.2107G>A
c.84G>A (p.Val28=)
c.*638G>A (n.*638G>A)
c.7440G>A (p.Val2480=)
c.8037G>A (p.Val2679=)
c.7986G>A (p.Val2662=)
c.7803G>A (p.Val2601=)
c.7524G>A (p.Val2508=)
c.6567G>A (p.Val2189=)
c.6558G>A (p.Val2186=)
n.12021C>T
 gnomAD v4
5g.37064661G>CCA444096502CPLANE1,NIPBLc.8184G>C (p.Val2728=)
c.*128G>C (n.*128G>C)
n.2107G>C
c.84G>C (p.Val28=)
c.*638G>C (n.*638G>C)
c.7440G>C (p.Val2480=)
c.8037G>C (p.Val2679=)
c.7986G>C (p.Val2662=)
c.7803G>C (p.Val2601=)
c.7524G>C (p.Val2508=)
c.6567G>C (p.Val2189=)
c.6558G>C (p.Val2186=)
n.12021C>G
5g.37064661G>TCA444096501CPLANE1,NIPBLc.8184G>T (p.Val2728=)
c.*128G>T (n.*128G>T)
n.2107G>T
c.84G>T (p.Val28=)
c.*638G>T (n.*638G>T)
c.7440G>T (p.Val2480=)
c.8037G>T (p.Val2679=)
c.7986G>T (p.Val2662=)
c.7803G>T (p.Val2601=)
c.7524G>T (p.Val2508=)
c.6567G>T (p.Val2189=)
c.6558G>T (p.Val2186=)
n.12021C>A
5g.37064662C>ACA359522452CPLANE1,NIPBLc.8185C>A (p.Gln2729Lys)
c.*129C>A (n.*129C>A)
n.2108C>A
c.85C>A (p.Gln29Lys)
c.*639C>A (n.*639C>A)
c.7441C>A (p.Gln2481Lys)
c.8038C>A (p.Gln2680Lys)
c.7987C>A (p.Gln2663Lys)
c.7804C>A (p.Gln2602Lys)
c.7525C>A (p.Gln2509Lys)
c.6568C>A (p.Gln2190Lys)
c.6559C>A (p.Gln2187Lys)
n.12020G>T
5g.37064662C=CA1539590369CPLANE1,NIPBLc.8185C= (p.Gln2729=)
c.*129C= (n.*129C=)
n.2108C=
c.85C= (p.Gln29=)
c.*639C= (n.*639C=)
c.7441C= (p.Gln2481=)
c.8038C= (p.Gln2680=)
c.7987C= (p.Gln2663=)
c.7804C= (p.Gln2602=)
c.7525C= (p.Gln2509=)
c.6568C= (p.Gln2190=)
c.6559C= (p.Gln2187=)
n.12020G=
5g.37064662C>GCA359522455CPLANE1,NIPBLc.8185C>G (p.Gln2729Glu)
c.*129C>G (n.*129C>G)
n.2108C>G
c.85C>G (p.Gln29Glu)
c.*639C>G (n.*639C>G)
c.7441C>G (p.Gln2481Glu)
c.8038C>G (p.Gln2680Glu)
c.7987C>G (p.Gln2663Glu)
c.7804C>G (p.Gln2602Glu)
c.7525C>G (p.Gln2509Glu)
c.6568C>G (p.Gln2190Glu)
c.6559C>G (p.Gln2187Glu)
n.12020G>C
 dbSNP gnomAD v2
5g.37064662C>TCA359522456CPLANE1,NIPBLc.8185C>T (p.Gln2729Ter)
c.*129C>T (n.*129C>T)
n.2108C>T
c.85C>T (p.Gln29Ter)
c.*639C>T (n.*639C>T)
c.7441C>T (p.Gln2481Ter)
c.8038C>T (p.Gln2680Ter)
c.7987C>T (p.Gln2663Ter)
c.7804C>T (p.Gln2602Ter)
c.7525C>T (p.Gln2509Ter)
c.6568C>T (p.Gln2190Ter)
c.6559C>T (p.Gln2187Ter)
n.12020G>A
5g.37064663A>CCA359522457CPLANE1,NIPBLc.8186A>C (p.Gln2729Pro)
c.*130A>C (n.*130A>C)
n.2109A>C
c.86A>C (p.Gln29Pro)
c.*640A>C (n.*640A>C)
c.7442A>C (p.Gln2481Pro)
c.8039A>C (p.Gln2680Pro)
c.7988A>C (p.Gln2663Pro)
c.7805A>C (p.Gln2602Pro)
c.7526A>C (p.Gln2509Pro)
c.6569A>C (p.Gln2190Pro)
c.6560A>C (p.Gln2187Pro)
n.12019T>G
5g.37064663A>GCA359522458CPLANE1,NIPBLc.8186A>G (p.Gln2729Arg)
c.*130A>G (n.*130A>G)
n.2109A>G
c.86A>G (p.Gln29Arg)
c.*640A>G (n.*640A>G)
c.7442A>G (p.Gln2481Arg)
c.8039A>G (p.Gln2680Arg)
c.7988A>G (p.Gln2663Arg)
c.7805A>G (p.Gln2602Arg)
c.7526A>G (p.Gln2509Arg)
c.6569A>G (p.Gln2190Arg)
c.6560A>G (p.Gln2187Arg)
n.12019T>C
5g.37064663A>TCA359522459CPLANE1,NIPBLc.8186A>T (p.Gln2729Leu)
c.*130A>T (n.*130A>T)
n.2109A>T
c.86A>T (p.Gln29Leu)
c.*640A>T (n.*640A>T)
c.7442A>T (p.Gln2481Leu)
c.8039A>T (p.Gln2680Leu)
c.7988A>T (p.Gln2663Leu)
c.7805A>T (p.Gln2602Leu)
c.7526A>T (p.Gln2509Leu)
c.6569A>T (p.Gln2190Leu)
c.6560A>T (p.Gln2187Leu)
n.12019T>A
5g.37064664G>ACA444096504CPLANE1,NIPBLc.8187G>A (p.Gln2729=)
c.*131G>A (n.*131G>A)
n.2110G>A
c.87G>A (p.Gln29=)
c.*641G>A (n.*641G>A)
c.7443G>A (p.Gln2481=)
c.8040G>A (p.Gln2680=)
c.7989G>A (p.Gln2663=)
c.7806G>A (p.Gln2602=)
c.7527G>A (p.Gln2509=)
c.6570G>A (p.Gln2190=)
c.6561G>A (p.Gln2187=)
n.12018C>T
5g.37064664G>CCA359522460CPLANE1,NIPBLc.8187G>C (p.Gln2729His)
c.*131G>C (n.*131G>C)
n.2110G>C
c.87G>C (p.Gln29His)
c.*641G>C (n.*641G>C)
c.7443G>C (p.Gln2481His)
c.8040G>C (p.Gln2680His)
c.7989G>C (p.Gln2663His)
c.7806G>C (p.Gln2602His)
c.7527G>C (p.Gln2509His)
c.6570G>C (p.Gln2190His)
c.6561G>C (p.Gln2187His)
n.12018C>G
5g.37064664G>TCA359522461CPLANE1,NIPBLc.8187G>T (p.Gln2729His)
c.*131G>T (n.*131G>T)
n.2110G>T
c.87G>T (p.Gln29His)
c.*641G>T (n.*641G>T)
c.7443G>T (p.Gln2481His)
c.8040G>T (p.Gln2680His)
c.7989G>T (p.Gln2663His)
c.7806G>T (p.Gln2602His)
c.7527G>T (p.Gln2509His)
c.6570G>T (p.Gln2190His)
c.6561G>T (p.Gln2187His)
n.12018C>A
5g.37064665A>CCA359522463CPLANE1,NIPBLc.8188A>C (p.Lys2730Gln)
c.*132A>C (n.*132A>C)
n.2111A>C
c.88A>C (p.Lys30Gln)
c.*642A>C (n.*642A>C)
c.7444A>C (p.Lys2482Gln)
c.8041A>C (p.Lys2681Gln)
c.7990A>C (p.Lys2664Gln)
c.7807A>C (p.Lys2603Gln)
c.7528A>C (p.Lys2510Gln)
c.6571A>C (p.Lys2191Gln)
c.6562A>C (p.Lys2188Gln)
n.12017T>G
5g.37064665A>GCA359522464CPLANE1,NIPBLc.8188A>G (p.Lys2730Glu)
c.*132A>G (n.*132A>G)
n.2111A>G
c.88A>G (p.Lys30Glu)
c.*642A>G (n.*642A>G)
c.7444A>G (p.Lys2482Glu)
c.8041A>G (p.Lys2681Glu)
c.7990A>G (p.Lys2664Glu)
c.7807A>G (p.Lys2603Glu)
c.7528A>G (p.Lys2510Glu)
c.6571A>G (p.Lys2191Glu)
c.6562A>G (p.Lys2188Glu)
n.12017T>C
5g.37064665A>TCA359522466CPLANE1,NIPBLc.8188A>T (p.Lys2730Ter)
c.*132A>T (n.*132A>T)
n.2111A>T
c.88A>T (p.Lys30Ter)
c.*642A>T (n.*642A>T)
c.7444A>T (p.Lys2482Ter)
c.8041A>T (p.Lys2681Ter)
c.7990A>T (p.Lys2664Ter)
c.7807A>T (p.Lys2603Ter)
c.7528A>T (p.Lys2510Ter)
c.6571A>T (p.Lys2191Ter)
c.6562A>T (p.Lys2188Ter)
n.12017T>A
5g.37064666A>CCA359522470CPLANE1,NIPBLc.8189A>C (p.Lys2730Thr)
c.*133A>C (n.*133A>C)
n.2112A>C
c.89A>C (p.Lys30Thr)
c.*643A>C (n.*643A>C)
c.7445A>C (p.Lys2482Thr)
c.8042A>C (p.Lys2681Thr)
c.7991A>C (p.Lys2664Thr)
c.7808A>C (p.Lys2603Thr)
c.7529A>C (p.Lys2510Thr)
c.6572A>C (p.Lys2191Thr)
c.6563A>C (p.Lys2188Thr)
n.12016T>G
5g.37064666A>GCA359522468CPLANE1,NIPBLc.8189A>G (p.Lys2730Arg)
c.*133A>G (n.*133A>G)
n.2112A>G
c.89A>G (p.Lys30Arg)
c.*643A>G (n.*643A>G)
c.7445A>G (p.Lys2482Arg)
c.8042A>G (p.Lys2681Arg)
c.7991A>G (p.Lys2664Arg)
c.7808A>G (p.Lys2603Arg)
c.7529A>G (p.Lys2510Arg)
c.6572A>G (p.Lys2191Arg)
c.6563A>G (p.Lys2188Arg)
n.12016T>C
5g.37064666A>TCA359522469CPLANE1,NIPBLc.8189A>T (p.Lys2730Ile)
c.*133A>T (n.*133A>T)
n.2112A>T
c.89A>T (p.Lys30Ile)
c.*643A>T (n.*643A>T)
c.7445A>T (p.Lys2482Ile)
c.8042A>T (p.Lys2681Ile)
c.7991A>T (p.Lys2664Ile)
c.7808A>T (p.Lys2603Ile)
c.7529A>T (p.Lys2510Ile)
c.6572A>T (p.Lys2191Ile)
c.6563A>T (p.Lys2188Ile)
n.12016T>A
5g.37064667A>CCA359522472CPLANE1,NIPBLc.8190A>C (p.Lys2730Asn)
c.*134A>C (n.*134A>C)
n.2113A>C
c.90A>C (p.Lys30Asn)
c.*644A>C (n.*644A>C)
c.7446A>C (p.Lys2482Asn)
c.8043A>C (p.Lys2681Asn)
c.7992A>C (p.Lys2664Asn)
c.7809A>C (p.Lys2603Asn)
c.7530A>C (p.Lys2510Asn)
c.6573A>C (p.Lys2191Asn)
c.6564A>C (p.Lys2188Asn)
n.12015T>G
5g.37064667A>GCA444096505CPLANE1,NIPBLc.8190A>G (p.Lys2730=)
c.*134A>G (n.*134A>G)
n.2113A>G
c.90A>G (p.Lys30=)
c.*644A>G (n.*644A>G)
c.7446A>G (p.Lys2482=)
c.8043A>G (p.Lys2681=)
c.7992A>G (p.Lys2664=)
c.7809A>G (p.Lys2603=)
c.7530A>G (p.Lys2510=)
c.6573A>G (p.Lys2191=)
c.6564A>G (p.Lys2188=)
n.12015T>C
5g.37064667A>TCA359522474CPLANE1,NIPBLc.8190A>T (p.Lys2730Asn)
c.*134A>T (n.*134A>T)
n.2113A>T
c.90A>T (p.Lys30Asn)
c.*644A>T (n.*644A>T)
c.7446A>T (p.Lys2482Asn)
c.8043A>T (p.Lys2681Asn)
c.7992A>T (p.Lys2664Asn)
c.7809A>T (p.Lys2603Asn)
c.7530A>T (p.Lys2510Asn)
c.6573A>T (p.Lys2191Asn)
c.6564A>T (p.Lys2188Asn)
n.12015T>A
5g.37064668A>CCA359522479CPLANE1,NIPBLc.8191A>C (p.Thr2731Pro)
c.*135A>C (n.*135A>C)
n.2114A>C
c.91A>C (p.Thr31Pro)
c.*645A>C (n.*645A>C)
c.7447A>C (p.Thr2483Pro)
c.8044A>C (p.Thr2682Pro)
c.7993A>C (p.Thr2665Pro)
c.7810A>C (p.Thr2604Pro)
c.7531A>C (p.Thr2511Pro)
c.6574A>C (p.Thr2192Pro)
c.6565A>C (p.Thr2189Pro)
n.12014T>G
5g.37064668A>GCA359522482CPLANE1,NIPBLc.8191A>G (p.Thr2731Ala)
c.*135A>G (n.*135A>G)
n.2114A>G
c.91A>G (p.Thr31Ala)
c.*645A>G (n.*645A>G)
c.7447A>G (p.Thr2483Ala)
c.8044A>G (p.Thr2682Ala)
c.7993A>G (p.Thr2665Ala)
c.7810A>G (p.Thr2604Ala)
c.7531A>G (p.Thr2511Ala)
c.6574A>G (p.Thr2192Ala)
c.6565A>G (p.Thr2189Ala)
n.12014T>C
5g.37064668A>TCA359522480CPLANE1,NIPBLc.8191A>T (p.Thr2731Ser)
c.*135A>T (n.*135A>T)
n.2114A>T
c.91A>T (p.Thr31Ser)
c.*645A>T (n.*645A>T)
c.7447A>T (p.Thr2483Ser)
c.8044A>T (p.Thr2682Ser)
c.7993A>T (p.Thr2665Ser)
c.7810A>T (p.Thr2604Ser)
c.7531A>T (p.Thr2511Ser)
c.6574A>T (p.Thr2192Ser)
c.6565A>T (p.Thr2189Ser)
n.12014T>A
5g.37064669C>ACA359522483CPLANE1,NIPBLc.8192C>A (p.Thr2731Asn)
c.*136C>A (n.*136C>A)
n.2115C>A
c.92C>A (p.Thr31Asn)
c.*646C>A (n.*646C>A)
c.7448C>A (p.Thr2483Asn)
c.8045C>A (p.Thr2682Asn)
c.7994C>A (p.Thr2665Asn)
c.7811C>A (p.Thr2604Asn)
c.7532C>A (p.Thr2511Asn)
c.6575C>A (p.Thr2192Asn)
c.6566C>A (p.Thr2189Asn)
n.12013G>T
5g.37064669C=CA1539590375CPLANE1,NIPBLc.8192C= (p.Thr2731=)
c.*136C= (n.*136C=)
n.2115C=
c.92C= (p.Thr31=)
c.*646C= (n.*646C=)
c.7448C= (p.Thr2483=)
c.8045C= (p.Thr2682=)
c.7994C= (p.Thr2665=)
c.7811C= (p.Thr2604=)
c.7532C= (p.Thr2511=)
c.6575C= (p.Thr2192=)
c.6566C= (p.Thr2189=)
n.12013G=
5g.37064669C>GCA3237344CPLANE1,NIPBLc.8192C>G (p.Thr2731Ser)
c.*136C>G (n.*136C>G)
n.2115C>G
c.92C>G (p.Thr31Ser)
c.*646C>G (n.*646C>G)
c.7448C>G (p.Thr2483Ser)
c.8045C>G (p.Thr2682Ser)
c.7994C>G (p.Thr2665Ser)
c.7811C>G (p.Thr2604Ser)
c.7532C>G (p.Thr2511Ser)
c.6575C>G (p.Thr2192Ser)
c.6566C>G (p.Thr2189Ser)
n.12013G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37064669C>TCA359522484CPLANE1,NIPBLc.8192C>T (p.Thr2731Ile)
c.*136C>T (n.*136C>T)
n.2115C>T
c.92C>T (p.Thr31Ile)
c.*646C>T (n.*646C>T)
c.7448C>T (p.Thr2483Ile)
c.8045C>T (p.Thr2682Ile)
c.7994C>T (p.Thr2665Ile)
c.7811C>T (p.Thr2604Ile)
c.7532C>T (p.Thr2511Ile)
c.6575C>T (p.Thr2192Ile)
c.6566C>T (p.Thr2189Ile)
n.12013G>A
 dbSNP
5g.37064670C>ACA444096506CPLANE1,NIPBLc.8193C>A (p.Thr2731=)
c.*137C>A (n.*137C>A)
n.2116C>A
c.93C>A (p.Thr31=)
c.*647C>A (n.*647C>A)
c.7449C>A (p.Thr2483=)
c.8046C>A (p.Thr2682=)
c.7995C>A (p.Thr2665=)
c.7812C>A (p.Thr2604=)
c.7533C>A (p.Thr2511=)
c.6576C>A (p.Thr2192=)
c.6567C>A (p.Thr2189=)
n.12012G>T
5g.37064670C>GCA444096507CPLANE1,NIPBLc.8193C>G (p.Thr2731=)
c.*137C>G (n.*137C>G)
n.2116C>G
c.93C>G (p.Thr31=)
c.*647C>G (n.*647C>G)
c.7449C>G (p.Thr2483=)
c.8046C>G (p.Thr2682=)
c.7995C>G (p.Thr2665=)
c.7812C>G (p.Thr2604=)
c.7533C>G (p.Thr2511=)
c.6576C>G (p.Thr2192=)
c.6567C>G (p.Thr2189=)
n.12012G>C
5g.37064670C>TCA444096508CPLANE1,NIPBLc.8193C>T (p.Thr2731=)
c.*137C>T (n.*137C>T)
n.2116C>T
c.93C>T (p.Thr31=)
c.*647C>T (n.*647C>T)
c.7449C>T (p.Thr2483=)
c.8046C>T (p.Thr2682=)
c.7995C>T (p.Thr2665=)
c.7812C>T (p.Thr2604=)
c.7533C>T (p.Thr2511=)
c.6576C>T (p.Thr2192=)
c.6567C>T (p.Thr2189=)
n.12012G>A
5g.37064671A>CCA359522487CPLANE1,NIPBLc.8194A>C (p.Ser2732Arg)
c.*138A>C (n.*138A>C)
n.2117A>C
c.94A>C (p.Ser32Arg)
c.*648A>C (n.*648A>C)
c.7450A>C (p.Ser2484Arg)
c.8047A>C (p.Ser2683Arg)
c.7996A>C (p.Ser2666Arg)
c.7813A>C (p.Ser2605Arg)
c.7534A>C (p.Ser2512Arg)
c.6577A>C (p.Ser2193Arg)
c.6568A>C (p.Ser2190Arg)
n.12011T>G
 gnomAD v4
5g.37064671A>GCA359522489CPLANE1,NIPBLc.8194A>G (p.Ser2732Gly)
c.*138A>G (n.*138A>G)
n.2117A>G
c.94A>G (p.Ser32Gly)
c.*648A>G (n.*648A>G)
c.7450A>G (p.Ser2484Gly)
c.8047A>G (p.Ser2683Gly)
c.7996A>G (p.Ser2666Gly)
c.7813A>G (p.Ser2605Gly)
c.7534A>G (p.Ser2512Gly)
c.6577A>G (p.Ser2193Gly)
c.6568A>G (p.Ser2190Gly)
n.12011T>C
5g.37064671A>TCA359522490CPLANE1,NIPBLc.8194A>T (p.Ser2732Cys)
c.*138A>T (n.*138A>T)
n.2117A>T
c.94A>T (p.Ser32Cys)
c.*648A>T (n.*648A>T)
c.7450A>T (p.Ser2484Cys)
c.8047A>T (p.Ser2683Cys)
c.7996A>T (p.Ser2666Cys)
c.7813A>T (p.Ser2605Cys)
c.7534A>T (p.Ser2512Cys)
c.6577A>T (p.Ser2193Cys)
c.6568A>T (p.Ser2190Cys)
n.12011T>A
5g.37064672G>ACA359522491CPLANE1,NIPBLc.8195G>A (p.Ser2732Asn)
c.*139G>A (n.*139G>A)
n.2118G>A
c.95G>A (p.Ser32Asn)
c.*649G>A (n.*649G>A)
c.7451G>A (p.Ser2484Asn)
c.8048G>A (p.Ser2683Asn)
c.7997G>A (p.Ser2666Asn)
c.7814G>A (p.Ser2605Asn)
c.7535G>A (p.Ser2512Asn)
c.6578G>A (p.Ser2193Asn)
c.6569G>A (p.Ser2190Asn)
n.12010C>T
 COSMIC
5g.37064672G>CCA359522492CPLANE1,NIPBLc.8195G>C (p.Ser2732Thr)
c.*139G>C (n.*139G>C)
n.2118G>C
c.95G>C (p.Ser32Thr)
c.*649G>C (n.*649G>C)
c.7451G>C (p.Ser2484Thr)
c.8048G>C (p.Ser2683Thr)
c.7997G>C (p.Ser2666Thr)
c.7814G>C (p.Ser2605Thr)
c.7535G>C (p.Ser2512Thr)
c.6578G>C (p.Ser2193Thr)
c.6569G>C (p.Ser2190Thr)
n.12010C>G
5g.37064672G=CA1539590381CPLANE1,NIPBLc.8195G= (p.Ser2732=)
c.*139G= (n.*139G=)
n.2118G=
c.95G= (p.Ser32=)
c.*649G= (n.*649G=)
c.7451G= (p.Ser2484=)
c.8048G= (p.Ser2683=)
c.7997G= (p.Ser2666=)
c.7814G= (p.Ser2605=)
c.7535G= (p.Ser2512=)
c.6578G= (p.Ser2193=)
c.6569G= (p.Ser2190=)
n.12010C=
5g.37064672G>TCA117058967CPLANE1,NIPBLc.8195G>T (p.Ser2732Ile)
c.*139G>T (n.*139G>T)
n.2118G>T
c.95G>T (p.Ser32Ile)
c.*649G>T (n.*649G>T)
c.7451G>T (p.Ser2484Ile)
c.8048G>T (p.Ser2683Ile)
c.7997G>T (p.Ser2666Ile)
c.7814G>T (p.Ser2605Ile)
c.7535G>T (p.Ser2512Ile)
c.6578G>T (p.Ser2193Ile)
c.6569G>T (p.Ser2190Ile)
n.12010C>A
 dbSNP gnomAD v3 gnomAD v4
5g.37064673C>ACA359522494CPLANE1,NIPBLc.8196C>A (p.Ser2732Arg)
c.*140C>A (n.*140C>A)
n.2119C>A
c.96C>A (p.Ser32Arg)
c.*650C>A (n.*650C>A)
c.7452C>A (p.Ser2484Arg)
c.8049C>A (p.Ser2683Arg)
c.7998C>A (p.Ser2666Arg)
c.7815C>A (p.Ser2605Arg)
c.7536C>A (p.Ser2512Arg)
c.6579C>A (p.Ser2193Arg)
c.6570C>A (p.Ser2190Arg)
n.12009G>T
5g.37064673C>GCA359522495CPLANE1,NIPBLc.8196C>G (p.Ser2732Arg)
c.*140C>G (n.*140C>G)
n.2119C>G
c.96C>G (p.Ser32Arg)
c.*650C>G (n.*650C>G)
c.7452C>G (p.Ser2484Arg)
c.8049C>G (p.Ser2683Arg)
c.7998C>G (p.Ser2666Arg)
c.7815C>G (p.Ser2605Arg)
c.7536C>G (p.Ser2512Arg)
c.6579C>G (p.Ser2193Arg)
c.6570C>G (p.Ser2190Arg)
n.12009G>C
5g.37064673C>TCA444096509CPLANE1,NIPBLc.8196C>T (p.Ser2732=)
c.*140C>T (n.*140C>T)
n.2119C>T
c.96C>T (p.Ser32=)
c.*650C>T (n.*650C>T)
c.7452C>T (p.Ser2484=)
c.8049C>T (p.Ser2683=)
c.7998C>T (p.Ser2666=)
c.7815C>T (p.Ser2605=)
c.7536C>T (p.Ser2512=)
c.6579C>T (p.Ser2193=)
c.6570C>T (p.Ser2190=)
n.12009G>A
 gnomAD v4
5g.37064674A>CCA359522498CPLANE1,NIPBLc.8197A>C (p.Ser2733Arg)
c.*141A>C (n.*141A>C)
n.2120A>C
c.97A>C (p.Ser33Arg)
c.*651A>C (n.*651A>C)
c.7453A>C (p.Ser2485Arg)
c.8050A>C (p.Ser2684Arg)
c.7999A>C (p.Ser2667Arg)
c.7816A>C (p.Ser2606Arg)
c.7537A>C (p.Ser2513Arg)
c.6580A>C (p.Ser2194Arg)
c.6571A>C (p.Ser2191Arg)
n.12008T>G
5g.37064674A>GCA359522497CPLANE1,NIPBLc.8197A>G (p.Ser2733Gly)
c.*141A>G (n.*141A>G)
n.2120A>G
c.97A>G (p.Ser33Gly)
c.*651A>G (n.*651A>G)
c.7453A>G (p.Ser2485Gly)
c.8050A>G (p.Ser2684Gly)
c.7999A>G (p.Ser2667Gly)
c.7816A>G (p.Ser2606Gly)
c.7537A>G (p.Ser2513Gly)
c.6580A>G (p.Ser2194Gly)
c.6571A>G (p.Ser2191Gly)
n.12008T>C
5g.37064674A>TCA359522496CPLANE1,NIPBLc.8197A>T (p.Ser2733Cys)
c.*141A>T (n.*141A>T)
n.2120A>T
c.97A>T (p.Ser33Cys)
c.*651A>T (n.*651A>T)
c.7453A>T (p.Ser2485Cys)
c.8050A>T (p.Ser2684Cys)
c.7999A>T (p.Ser2667Cys)
c.7816A>T (p.Ser2606Cys)
c.7537A>T (p.Ser2513Cys)
c.6580A>T (p.Ser2194Cys)
c.6571A>T (p.Ser2191Cys)
n.12008T>A
5g.37064675G>ACA117058971CPLANE1,NIPBLc.8198G>A (p.Ser2733Asn)
c.*142G>A (n.*142G>A)
n.2121G>A
c.98G>A (p.Ser33Asn)
c.*652G>A (n.*652G>A)
c.7454G>A (p.Ser2485Asn)
c.8051G>A (p.Ser2684Asn)
c.8000G>A (p.Ser2667Asn)
c.7817G>A (p.Ser2606Asn)
c.7538G>A (p.Ser2513Asn)
c.6581G>A (p.Ser2194Asn)
c.6572G>A (p.Ser2191Asn)
n.12007C>T
 ClinVar dbSNP gnomAD v4
5g.37064675G>CCA359522502CPLANE1,NIPBLc.8198G>C (p.Ser2733Thr)
c.*142G>C (n.*142G>C)
n.2121G>C
c.98G>C (p.Ser33Thr)
c.*652G>C (n.*652G>C)
c.7454G>C (p.Ser2485Thr)
c.8051G>C (p.Ser2684Thr)
c.8000G>C (p.Ser2667Thr)
c.7817G>C (p.Ser2606Thr)
c.7538G>C (p.Ser2513Thr)
c.6581G>C (p.Ser2194Thr)
c.6572G>C (p.Ser2191Thr)
n.12007C>G
5g.37064675G=CA1539590391CPLANE1,NIPBLc.8198G= (p.Ser2733=)
c.*142G= (n.*142G=)
n.2121G=
c.98G= (p.Ser33=)
c.*652G= (n.*652G=)
c.7454G= (p.Ser2485=)
c.8051G= (p.Ser2684=)
c.8000G= (p.Ser2667=)
c.7817G= (p.Ser2606=)
c.7538G= (p.Ser2513=)
c.6581G= (p.Ser2194=)
c.6572G= (p.Ser2191=)
n.12007C=
5g.37064675G>TCA359522503CPLANE1,NIPBLc.8198G>T (p.Ser2733Ile)
c.*142G>T (n.*142G>T)
n.2121G>T
c.98G>T (p.Ser33Ile)
c.*652G>T (n.*652G>T)
c.7454G>T (p.Ser2485Ile)
c.8051G>T (p.Ser2684Ile)
c.8000G>T (p.Ser2667Ile)
c.7817G>T (p.Ser2606Ile)
c.7538G>T (p.Ser2513Ile)
c.6581G>T (p.Ser2194Ile)
c.6572G>T (p.Ser2191Ile)
n.12007C>A
5g.37064676T>ACA359522504CPLANE1,NIPBLc.8199T>A (p.Ser2733Arg)
c.*143T>A (n.*143T>A)
n.2122T>A
c.99T>A (p.Ser33Arg)
c.*653T>A (n.*653T>A)
c.7455T>A (p.Ser2485Arg)
c.8052T>A (p.Ser2684Arg)
c.8001T>A (p.Ser2667Arg)
c.7818T>A (p.Ser2606Arg)
c.7539T>A (p.Ser2513Arg)
c.6582T>A (p.Ser2194Arg)
c.6573T>A (p.Ser2191Arg)
n.12006A>T
5g.37064676T>CCA444096510CPLANE1,NIPBLc.8199T>C (p.Ser2733=)
c.*143T>C (n.*143T>C)
n.2122T>C
c.99T>C (p.Ser33=)
c.*653T>C (n.*653T>C)
c.7455T>C (p.Ser2485=)
c.8052T>C (p.Ser2684=)
c.8001T>C (p.Ser2667=)
c.7818T>C (p.Ser2606=)
c.7539T>C (p.Ser2513=)
c.6582T>C (p.Ser2194=)
c.6573T>C (p.Ser2191=)
n.12006A>G
5g.37064676T>GCA359522506CPLANE1,NIPBLc.8199T>G (p.Ser2733Arg)
c.*143T>G (n.*143T>G)
n.2122T>G
c.99T>G (p.Ser33Arg)
c.*653T>G (n.*653T>G)
c.7455T>G (p.Ser2485Arg)
c.8052T>G (p.Ser2684Arg)
c.8001T>G (p.Ser2667Arg)
c.7818T>G (p.Ser2606Arg)
c.7539T>G (p.Ser2513Arg)
c.6582T>G (p.Ser2194Arg)
c.6573T>G (p.Ser2191Arg)
n.12006A>C
5g.37064677G>ACA359522509CPLANE1,NIPBLc.8200G>A (p.Gly2734Ser)
c.*144G>A (n.*144G>A)
n.2123G>A
c.100G>A (p.Gly34Ser)
c.*654G>A (n.*654G>A)
c.7456G>A (p.Gly2486Ser)
c.8053G>A (p.Gly2685Ser)
c.8002G>A (p.Gly2668Ser)
c.7819G>A (p.Gly2607Ser)
c.7540G>A (p.Gly2514Ser)
c.6583G>A (p.Gly2195Ser)
c.6574G>A (p.Gly2192Ser)
n.12005C>T
5g.37064677G>CCA359522510CPLANE1,NIPBLc.8200G>C (p.Gly2734Arg)
c.*144G>C (n.*144G>C)
n.2123G>C
c.100G>C (p.Gly34Arg)
c.*654G>C (n.*654G>C)
c.7456G>C (p.Gly2486Arg)
c.8053G>C (p.Gly2685Arg)
c.8002G>C (p.Gly2668Arg)
c.7819G>C (p.Gly2607Arg)
c.7540G>C (p.Gly2514Arg)
c.6583G>C (p.Gly2195Arg)
c.6574G>C (p.Gly2192Arg)
n.12005C>G
5g.37064677G>TCA359522512CPLANE1,NIPBLc.8200G>T (p.Gly2734Cys)
c.*144G>T (n.*144G>T)
n.2123G>T
c.100G>T (p.Gly34Cys)
c.*654G>T (n.*654G>T)
c.7456G>T (p.Gly2486Cys)
c.8053G>T (p.Gly2685Cys)
c.8002G>T (p.Gly2668Cys)
c.7819G>T (p.Gly2607Cys)
c.7540G>T (p.Gly2514Cys)
c.6583G>T (p.Gly2195Cys)
c.6574G>T (p.Gly2192Cys)
n.12005C>A
5g.37064678G>ACA359522513CPLANE1,NIPBLc.8201G>A (p.Gly2734Asp)
c.*145G>A (n.*145G>A)
n.2124G>A
c.101G>A (p.Gly34Asp)
c.*655G>A (n.*655G>A)
c.7457G>A (p.Gly2486Asp)
c.8054G>A (p.Gly2685Asp)
c.8003G>A (p.Gly2668Asp)
c.7820G>A (p.Gly2607Asp)
c.7541G>A (p.Gly2514Asp)
c.6584G>A (p.Gly2195Asp)
c.6575G>A (p.Gly2192Asp)
n.12004C>T
5g.37064678G>CCA359522514CPLANE1,NIPBLc.8201G>C (p.Gly2734Ala)
c.*145G>C (n.*145G>C)
n.2124G>C
c.101G>C (p.Gly34Ala)
c.*655G>C (n.*655G>C)
c.7457G>C (p.Gly2486Ala)
c.8054G>C (p.Gly2685Ala)
c.8003G>C (p.Gly2668Ala)
c.7820G>C (p.Gly2607Ala)
c.7541G>C (p.Gly2514Ala)
c.6584G>C (p.Gly2195Ala)
c.6575G>C (p.Gly2192Ala)
n.12004C>G
5g.37064678G>TCA359522515CPLANE1,NIPBLc.8201G>T (p.Gly2734Val)
c.*145G>T (n.*145G>T)
n.2124G>T
c.101G>T (p.Gly34Val)
c.*655G>T (n.*655G>T)
c.7457G>T (p.Gly2486Val)
c.8054G>T (p.Gly2685Val)
c.8003G>T (p.Gly2668Val)
c.7820G>T (p.Gly2607Val)
c.7541G>T (p.Gly2514Val)
c.6584G>T (p.Gly2195Val)
c.6575G>T (p.Gly2192Val)
n.12004C>A
5g.37064679C>ACA444096511CPLANE1,NIPBLc.8202C>A (p.Gly2734=)
c.*146C>A (n.*146C>A)
n.2125C>A
c.102C>A (p.Gly34=)
c.*656C>A (n.*656C>A)
c.7458C>A (p.Gly2486=)
c.8055C>A (p.Gly2685=)
c.8004C>A (p.Gly2668=)
c.7821C>A (p.Gly2607=)
c.7542C>A (p.Gly2514=)
c.6585C>A (p.Gly2195=)
c.6576C>A (p.Gly2192=)
n.12003G>T
5g.37064679C>GCA444096512CPLANE1,NIPBLc.8202C>G (p.Gly2734=)
c.*146C>G (n.*146C>G)
n.2125C>G
c.102C>G (p.Gly34=)
c.*656C>G (n.*656C>G)
c.7458C>G (p.Gly2486=)
c.8055C>G (p.Gly2685=)
c.8004C>G (p.Gly2668=)
c.7821C>G (p.Gly2607=)
c.7542C>G (p.Gly2514=)
c.6585C>G (p.Gly2195=)
c.6576C>G (p.Gly2192=)
n.12003G>C
5g.37064679C>TCA444096513CPLANE1,NIPBLc.8202C>T (p.Gly2734=)
c.*146C>T (n.*146C>T)
n.2125C>T
c.102C>T (p.Gly34=)
c.*656C>T (n.*656C>T)
c.7458C>T (p.Gly2486=)
c.8055C>T (p.Gly2685=)
c.8004C>T (p.Gly2668=)
c.7821C>T (p.Gly2607=)
c.7542C>T (p.Gly2514=)
c.6585C>T (p.Gly2195=)
c.6576C>T (p.Gly2192=)
n.12003G>A
5g.37064680T>ACA359522519CPLANE1,NIPBLc.8203T>A (p.Phe2735Ile)
c.*147T>A (n.*147T>A)
n.2126T>A
c.103T>A (p.Phe35Ile)
c.*657T>A (n.*657T>A)
c.7459T>A (p.Phe2487Ile)
c.8056T>A (p.Phe2686Ile)
c.8005T>A (p.Phe2669Ile)
c.7822T>A (p.Phe2608Ile)
c.7543T>A (p.Phe2515Ile)
c.6586T>A (p.Phe2196Ile)
c.6577T>A (p.Phe2193Ile)
n.12002A>T
5g.37064680T>CCA359522517CPLANE1,NIPBLc.8203T>C (p.Phe2735Leu)
c.*147T>C (n.*147T>C)
n.2126T>C
c.103T>C (p.Phe35Leu)
c.*657T>C (n.*657T>C)
c.7459T>C (p.Phe2487Leu)
c.8056T>C (p.Phe2686Leu)
c.8005T>C (p.Phe2669Leu)
c.7822T>C (p.Phe2608Leu)
c.7543T>C (p.Phe2515Leu)
c.6586T>C (p.Phe2196Leu)
c.6577T>C (p.Phe2193Leu)
n.12002A>G
5g.37064680T>GCA359522516CPLANE1,NIPBLc.8203T>G (p.Phe2735Val)
c.*147T>G (n.*147T>G)
n.2126T>G
c.103T>G (p.Phe35Val)
c.*657T>G (n.*657T>G)
c.7459T>G (p.Phe2487Val)
c.8056T>G (p.Phe2686Val)
c.8005T>G (p.Phe2669Val)
c.7822T>G (p.Phe2608Val)
c.7543T>G (p.Phe2515Val)
c.6586T>G (p.Phe2196Val)
c.6577T>G (p.Phe2193Val)
n.12002A>C
 dbSNP gnomAD v3 gnomAD v4
5g.37064680T=CA1539590395CPLANE1,NIPBLc.8203T= (p.Phe2735=)
c.*147T= (n.*147T=)
n.2126T=
c.103T= (p.Phe35=)
c.*657T= (n.*657T=)
c.7459T= (p.Phe2487=)
c.8056T= (p.Phe2686=)
c.8005T= (p.Phe2669=)
c.7822T= (p.Phe2608=)
c.7543T= (p.Phe2515=)
c.6586T= (p.Phe2196=)
c.6577T= (p.Phe2193=)
n.12002A=
5g.37064681T>ACA359522522CPLANE1,NIPBLc.8204T>A (p.Phe2735Tyr)
c.*148T>A (n.*148T>A)
n.2127T>A
c.104T>A (p.Phe35Tyr)
c.*658T>A (n.*658T>A)
c.7460T>A (p.Phe2487Tyr)
c.8057T>A (p.Phe2686Tyr)
c.8006T>A (p.Phe2669Tyr)
c.7823T>A (p.Phe2608Tyr)
c.7544T>A (p.Phe2515Tyr)
c.6587T>A (p.Phe2196Tyr)
c.6578T>A (p.Phe2193Tyr)
n.12001A>T
5g.37064681T>CCA359522523CPLANE1,NIPBLc.8204T>C (p.Phe2735Ser)
c.*148T>C (n.*148T>C)
n.2127T>C
c.104T>C (p.Phe35Ser)
c.*658T>C (n.*658T>C)
c.7460T>C (p.Phe2487Ser)
c.8057T>C (p.Phe2686Ser)
c.8006T>C (p.Phe2669Ser)
c.7823T>C (p.Phe2608Ser)
c.7544T>C (p.Phe2515Ser)
c.6587T>C (p.Phe2196Ser)
c.6578T>C (p.Phe2193Ser)
n.12001A>G
5g.37064681T>GCA359522524CPLANE1,NIPBLc.8204T>G (p.Phe2735Cys)
c.*148T>G (n.*148T>G)
n.2127T>G
c.104T>G (p.Phe35Cys)
c.*658T>G (n.*658T>G)
c.7460T>G (p.Phe2487Cys)
c.8057T>G (p.Phe2686Cys)
c.8006T>G (p.Phe2669Cys)
c.7823T>G (p.Phe2608Cys)
c.7544T>G (p.Phe2515Cys)
c.6587T>G (p.Phe2196Cys)
c.6578T>G (p.Phe2193Cys)
n.12001A>C
5g.37064682C>ACA359522526CPLANE1,NIPBLc.8205C>A (p.Phe2735Leu)
c.*149C>A (n.*149C>A)
n.2128C>A
c.105C>A (p.Phe35Leu)
c.*659C>A (n.*659C>A)
c.7461C>A (p.Phe2487Leu)
c.8058C>A (p.Phe2686Leu)
c.8007C>A (p.Phe2669Leu)
c.7824C>A (p.Phe2608Leu)
c.7545C>A (p.Phe2515Leu)
c.6588C>A (p.Phe2196Leu)
c.6579C>A (p.Phe2193Leu)
n.12000G>T
5g.37064682C>GCA359522527CPLANE1,NIPBLc.8205C>G (p.Phe2735Leu)
c.*149C>G (n.*149C>G)
n.2128C>G
c.105C>G (p.Phe35Leu)
c.*659C>G (n.*659C>G)
c.7461C>G (p.Phe2487Leu)
c.8058C>G (p.Phe2686Leu)
c.8007C>G (p.Phe2669Leu)
c.7824C>G (p.Phe2608Leu)
c.7545C>G (p.Phe2515Leu)
c.6588C>G (p.Phe2196Leu)
c.6579C>G (p.Phe2193Leu)
n.12000G>C
5g.37064682C>TCA444096514CPLANE1,NIPBLc.8205C>T (p.Phe2735=)
c.*149C>T (n.*149C>T)
n.2128C>T
c.105C>T (p.Phe35=)
c.*659C>T (n.*659C>T)
c.7461C>T (p.Phe2487=)
c.8058C>T (p.Phe2686=)
c.8007C>T (p.Phe2669=)
c.7824C>T (p.Phe2608=)
c.7545C>T (p.Phe2515=)
c.6588C>T (p.Phe2196=)
c.6579C>T (p.Phe2193=)
n.12000G>A
5g.37064683A=CA1539590397CPLANE1,NIPBLc.8206A= (p.Ser2736=)
c.*150A= (n.*150A=)
n.2129A=
c.106A= (p.Ser36=)
c.*660A= (n.*660A=)
c.7462A= (p.Ser2488=)
c.8059A= (p.Ser2687=)
c.8008A= (p.Ser2670=)
c.7825A= (p.Ser2609=)
c.7546A= (p.Ser2516=)
c.6589A= (p.Ser2197=)
c.6580A= (p.Ser2194=)
n.11999T=
5g.37064683A>CCA359522528CPLANE1,NIPBLc.8206A>C (p.Ser2736Arg)
c.*150A>C (n.*150A>C)
n.2129A>C
c.106A>C (p.Ser36Arg)
c.*660A>C (n.*660A>C)
c.7462A>C (p.Ser2488Arg)
c.8059A>C (p.Ser2687Arg)
c.8008A>C (p.Ser2670Arg)
c.7825A>C (p.Ser2609Arg)
c.7546A>C (p.Ser2516Arg)
c.6589A>C (p.Ser2197Arg)
c.6580A>C (p.Ser2194Arg)
n.11999T>G
 gnomAD v4
5g.37064683A>GCA359522530CPLANE1,NIPBLc.8206A>G (p.Ser2736Gly)
c.*150A>G (n.*150A>G)
n.2129A>G
c.106A>G (p.Ser36Gly)
c.*660A>G (n.*660A>G)
c.7462A>G (p.Ser2488Gly)
c.8059A>G (p.Ser2687Gly)
c.8008A>G (p.Ser2670Gly)
c.7825A>G (p.Ser2609Gly)
c.7546A>G (p.Ser2516Gly)
c.6589A>G (p.Ser2197Gly)
c.6580A>G (p.Ser2194Gly)
n.11999T>C
 dbSNP
5g.37064683A>TCA359522533CPLANE1,NIPBLc.8206A>T (p.Ser2736Cys)
c.*150A>T (n.*150A>T)
n.2129A>T
c.106A>T (p.Ser36Cys)
c.*660A>T (n.*660A>T)
c.7462A>T (p.Ser2488Cys)
c.8059A>T (p.Ser2687Cys)
c.8008A>T (p.Ser2670Cys)
c.7825A>T (p.Ser2609Cys)
c.7546A>T (p.Ser2516Cys)
c.6589A>T (p.Ser2197Cys)
c.6580A>T (p.Ser2194Cys)
n.11999T>A
5g.37064684G>ACA359522540CPLANE1,NIPBLc.8207G>A (p.Ser2736Asn)
c.*151G>A (n.*151G>A)
n.2130G>A
c.107G>A (p.Ser36Asn)
c.*661G>A (n.*661G>A)
c.7463G>A (p.Ser2488Asn)
c.8060G>A (p.Ser2687Asn)
c.8009G>A (p.Ser2670Asn)
c.7826G>A (p.Ser2609Asn)
c.7547G>A (p.Ser2516Asn)
c.6590G>A (p.Ser2197Asn)
c.6581G>A (p.Ser2194Asn)
n.11998C>T
5g.37064684G>CCA359522542CPLANE1,NIPBLc.8207G>C (p.Ser2736Thr)
c.*151G>C (n.*151G>C)
n.2130G>C
c.107G>C (p.Ser36Thr)
c.*661G>C (n.*661G>C)
c.7463G>C (p.Ser2488Thr)
c.8060G>C (p.Ser2687Thr)
c.8009G>C (p.Ser2670Thr)
c.7826G>C (p.Ser2609Thr)
c.7547G>C (p.Ser2516Thr)
c.6590G>C (p.Ser2197Thr)
c.6581G>C (p.Ser2194Thr)
n.11998C>G
5g.37064684G>TCA359522544CPLANE1,NIPBLc.8207G>T (p.Ser2736Ile)
c.*151G>T (n.*151G>T)
n.2130G>T
c.107G>T (p.Ser36Ile)
c.*661G>T (n.*661G>T)
c.7463G>T (p.Ser2488Ile)
c.8060G>T (p.Ser2687Ile)
c.8009G>T (p.Ser2670Ile)
c.7826G>T (p.Ser2609Ile)
c.7547G>T (p.Ser2516Ile)
c.6590G>T (p.Ser2197Ile)
c.6581G>T (p.Ser2194Ile)
n.11998C>A
5g.37064685T>ACA359522546CPLANE1,NIPBLc.8208T>A (p.Ser2736Arg)
c.*152T>A (n.*152T>A)
n.2131T>A
c.108T>A (p.Ser36Arg)
c.*662T>A (n.*662T>A)
c.7464T>A (p.Ser2488Arg)
c.8061T>A (p.Ser2687Arg)
c.8010T>A (p.Ser2670Arg)
c.7827T>A (p.Ser2609Arg)
c.7548T>A (p.Ser2516Arg)
c.6591T>A (p.Ser2197Arg)
c.6582T>A (p.Ser2194Arg)
n.11997A>T
5g.37064685T>CCA444096515CPLANE1,NIPBLc.8208T>C (p.Ser2736=)
c.*152T>C (n.*152T>C)
n.2131T>C
c.108T>C (p.Ser36=)
c.*662T>C (n.*662T>C)
c.7464T>C (p.Ser2488=)
c.8061T>C (p.Ser2687=)
c.8010T>C (p.Ser2670=)
c.7827T>C (p.Ser2609=)
c.7548T>C (p.Ser2516=)
c.6591T>C (p.Ser2197=)
c.6582T>C (p.Ser2194=)
n.11997A>G
 gnomAD v4
5g.37064685T>GCA359522549CPLANE1,NIPBLc.8208T>G (p.Ser2736Arg)
c.*152T>G (n.*152T>G)
n.2131T>G
c.108T>G (p.Ser36Arg)
c.*662T>G (n.*662T>G)
c.7464T>G (p.Ser2488Arg)
c.8061T>G (p.Ser2687Arg)
c.8010T>G (p.Ser2670Arg)
c.7827T>G (p.Ser2609Arg)
c.7548T>G (p.Ser2516Arg)
c.6591T>G (p.Ser2197Arg)
c.6582T>G (p.Ser2194Arg)
n.11997A>C
5g.37064686G>ACA359522551CPLANE1,NIPBLc.8209G>A (p.Val2737Ile)
c.*153G>A (n.*153G>A)
n.2132G>A
c.109G>A (p.Val37Ile)
c.*663G>A (n.*663G>A)
c.7465G>A (p.Val2489Ile)
c.8062G>A (p.Val2688Ile)
c.8011G>A (p.Val2671Ile)
c.7828G>A (p.Val2610Ile)
c.7549G>A (p.Val2517Ile)
c.6592G>A (p.Val2198Ile)
c.6583G>A (p.Val2195Ile)
n.11996C>T
5g.37064686G>CCA359522554CPLANE1,NIPBLc.8209G>C (p.Val2737Leu)
c.*153G>C (n.*153G>C)
n.2132G>C
c.109G>C (p.Val37Leu)
c.*663G>C (n.*663G>C)
c.7465G>C (p.Val2489Leu)
c.8062G>C (p.Val2688Leu)
c.8011G>C (p.Val2671Leu)
c.7828G>C (p.Val2610Leu)
c.7549G>C (p.Val2517Leu)
c.6592G>C (p.Val2198Leu)
c.6583G>C (p.Val2195Leu)
n.11996C>G
5g.37064686G>TCA359522552CPLANE1,NIPBLc.8209G>T (p.Val2737Phe)
c.*153G>T (n.*153G>T)
n.2132G>T
c.109G>T (p.Val37Phe)
c.*663G>T (n.*663G>T)
c.7465G>T (p.Val2489Phe)
c.8062G>T (p.Val2688Phe)
c.8011G>T (p.Val2671Phe)
c.7828G>T (p.Val2610Phe)
c.7549G>T (p.Val2517Phe)
c.6592G>T (p.Val2198Phe)
c.6583G>T (p.Val2195Phe)
n.11996C>A
5g.37064687T>ACA359522555CPLANE1,NIPBLc.8210T>A (p.Val2737Asp)
c.*154T>A (n.*154T>A)
n.2133T>A
c.110T>A (p.Val37Asp)
c.*664T>A (n.*664T>A)
c.7466T>A (p.Val2489Asp)
c.8063T>A (p.Val2688Asp)
c.8012T>A (p.Val2671Asp)
c.7829T>A (p.Val2610Asp)
c.7550T>A (p.Val2517Asp)
c.6593T>A (p.Val2198Asp)
c.6584T>A (p.Val2195Asp)
n.11995A>T
5g.37064687T>CCA359522557CPLANE1,NIPBLc.8210T>C (p.Val2737Ala)
c.*154T>C (n.*154T>C)
n.2133T>C
c.110T>C (p.Val37Ala)
c.*664T>C (n.*664T>C)
c.7466T>C (p.Val2489Ala)
c.8063T>C (p.Val2688Ala)
c.8012T>C (p.Val2671Ala)
c.7829T>C (p.Val2610Ala)
c.7550T>C (p.Val2517Ala)
c.6593T>C (p.Val2198Ala)
c.6584T>C (p.Val2195Ala)
n.11995A>G
5g.37064687T>GCA359522559CPLANE1,NIPBLc.8210T>G (p.Val2737Gly)
c.*154T>G (n.*154T>G)
n.2133T>G
c.110T>G (p.Val37Gly)
c.*664T>G (n.*664T>G)
c.7466T>G (p.Val2489Gly)
c.8063T>G (p.Val2688Gly)
c.8012T>G (p.Val2671Gly)
c.7829T>G (p.Val2610Gly)
c.7550T>G (p.Val2517Gly)
c.6593T>G (p.Val2198Gly)
c.6584T>G (p.Val2195Gly)
n.11995A>C
5g.37064688T>ACA444096516CPLANE1,NIPBLc.8211T>A (p.Val2737=)
c.*155T>A (n.*155T>A)
n.2134T>A
c.111T>A (p.Val37=)
c.*665T>A (n.*665T>A)
c.7467T>A (p.Val2489=)
c.8064T>A (p.Val2688=)
c.8013T>A (p.Val2671=)
c.7830T>A (p.Val2610=)
c.7551T>A (p.Val2517=)
c.6594T>A (p.Val2198=)
c.6585T>A (p.Val2195=)
n.11994A>T
5g.37064688T>CCA444096518CPLANE1,NIPBLc.8211T>C (p.Val2737=)
c.*155T>C (n.*155T>C)
n.2134T>C
c.111T>C (p.Val37=)
c.*665T>C (n.*665T>C)
c.7467T>C (p.Val2489=)
c.8064T>C (p.Val2688=)
c.8013T>C (p.Val2671=)
c.7830T>C (p.Val2610=)
c.7551T>C (p.Val2517=)
c.6594T>C (p.Val2198=)
c.6585T>C (p.Val2195=)
n.11994A>G
5g.37064688T>GCA444096517CPLANE1,NIPBLc.8211T>G (p.Val2737=)
c.*155T>G (n.*155T>G)
n.2134T>G
c.111T>G (p.Val37=)
c.*665T>G (n.*665T>G)
c.7467T>G (p.Val2489=)
c.8064T>G (p.Val2688=)
c.8013T>G (p.Val2671=)
c.7830T>G (p.Val2610=)
c.7551T>G (p.Val2517=)
c.6594T>G (p.Val2198=)
c.6585T>G (p.Val2195=)
n.11994A>C
 gnomAD v4
5g.37064689C>ACA359522560CPLANE1,NIPBLc.8212C>A (p.Gln2738Lys)
c.*156C>A (n.*156C>A)
n.2135C>A
c.112C>A (p.Gln38Lys)
c.*666C>A (n.*666C>A)
c.7468C>A (p.Gln2490Lys)
c.8065C>A (p.Gln2689Lys)
c.8014C>A (p.Gln2672Lys)
c.7831C>A (p.Gln2611Lys)
c.7552C>A (p.Gln2518Lys)
c.6595C>A (p.Gln2199Lys)
c.6586C>A (p.Gln2196Lys)
n.11993G>T
5g.37064689C>GCA359522562CPLANE1,NIPBLc.8212C>G (p.Gln2738Glu)
c.*156C>G (n.*156C>G)
n.2135C>G
c.112C>G (p.Gln38Glu)
c.*666C>G (n.*666C>G)
c.7468C>G (p.Gln2490Glu)
c.8065C>G (p.Gln2689Glu)
c.8014C>G (p.Gln2672Glu)
c.7831C>G (p.Gln2611Glu)
c.7552C>G (p.Gln2518Glu)
c.6595C>G (p.Gln2199Glu)
c.6586C>G (p.Gln2196Glu)
n.11993G>C
 gnomAD v4
5g.37064689C>TCA359522563CPLANE1,NIPBLc.8212C>T (p.Gln2738Ter)
c.*156C>T (n.*156C>T)
n.2135C>T
c.112C>T (p.Gln38Ter)
c.*666C>T (n.*666C>T)
c.7468C>T (p.Gln2490Ter)
c.8065C>T (p.Gln2689Ter)
c.8014C>T (p.Gln2672Ter)
c.7831C>T (p.Gln2611Ter)
c.7552C>T (p.Gln2518Ter)
c.6595C>T (p.Gln2199Ter)
c.6586C>T (p.Gln2196Ter)
n.11993G>A
 COSMIC
5g.37064690A=CA1539590398CPLANE1,NIPBLc.8213A= (p.Gln2738=)
c.*157A= (n.*157A=)
n.2136A=
c.113A= (p.Gln38=)
c.*667A= (n.*667A=)
c.7469A= (p.Gln2490=)
c.8066A= (p.Gln2689=)
c.8015A= (p.Gln2672=)
c.7832A= (p.Gln2611=)
c.7553A= (p.Gln2518=)
c.6596A= (p.Gln2199=)
c.6587A= (p.Gln2196=)
n.11992T=
5g.37064690A>CCA359522564CPLANE1,NIPBLc.8213A>C (p.Gln2738Pro)
c.*157A>C (n.*157A>C)
n.2136A>C
c.113A>C (p.Gln38Pro)
c.*667A>C (n.*667A>C)
c.7469A>C (p.Gln2490Pro)
c.8066A>C (p.Gln2689Pro)
c.8015A>C (p.Gln2672Pro)
c.7832A>C (p.Gln2611Pro)
c.7553A>C (p.Gln2518Pro)
c.6596A>C (p.Gln2199Pro)
c.6587A>C (p.Gln2196Pro)
n.11992T>G
5g.37064690A>GCA359522565CPLANE1,NIPBLc.8213A>G (p.Gln2738Arg)
c.*157A>G (n.*157A>G)
n.2136A>G
c.113A>G (p.Gln38Arg)
c.*667A>G (n.*667A>G)
c.7469A>G (p.Gln2490Arg)
c.8066A>G (p.Gln2689Arg)
c.8015A>G (p.Gln2672Arg)
c.7832A>G (p.Gln2611Arg)
c.7553A>G (p.Gln2518Arg)
c.6596A>G (p.Gln2199Arg)
c.6587A>G (p.Gln2196Arg)
n.11992T>C
 dbSNP gnomAD v4
5g.37064690A>TCA359522566CPLANE1,NIPBLc.8213A>T (p.Gln2738Leu)
c.*157A>T (n.*157A>T)
n.2136A>T
c.113A>T (p.Gln38Leu)
c.*667A>T (n.*667A>T)
c.7469A>T (p.Gln2490Leu)
c.8066A>T (p.Gln2689Leu)
c.8015A>T (p.Gln2672Leu)
c.7832A>T (p.Gln2611Leu)
c.7553A>T (p.Gln2518Leu)
c.6596A>T (p.Gln2199Leu)
c.6587A>T (p.Gln2196Leu)
n.11992T>A
5g.37064691G>ACA117058974CPLANE1,NIPBLc.8214G>A (p.Gln2738=)
c.*158G>A (n.*158G>A)
n.2137G>A
c.114G>A (p.Gln38=)
c.*668G>A (n.*668G>A)
c.7470G>A (p.Gln2490=)
c.8067G>A (p.Gln2689=)
c.8016G>A (p.Gln2672=)
c.7833G>A (p.Gln2611=)
c.7554G>A (p.Gln2518=)
c.6597G>A (p.Gln2199=)
c.6588G>A (p.Gln2196=)
n.11991C>T
 dbSNP gnomAD v4
5g.37064691G>CCA359522567CPLANE1,NIPBLc.8214G>C (p.Gln2738His)
c.*158G>C (n.*158G>C)
n.2137G>C
c.114G>C (p.Gln38His)
c.*668G>C (n.*668G>C)
c.7470G>C (p.Gln2490His)
c.8067G>C (p.Gln2689His)
c.8016G>C (p.Gln2672His)
c.7833G>C (p.Gln2611His)
c.7554G>C (p.Gln2518His)
c.6597G>C (p.Gln2199His)
c.6588G>C (p.Gln2196His)
n.11991C>G
 dbSNP
5g.37064691G=CA1539590404CPLANE1,NIPBLc.8214G= (p.Gln2738=)
c.*158G= (n.*158G=)
n.2137G=
c.114G= (p.Gln38=)
c.*668G= (n.*668G=)
c.7470G= (p.Gln2490=)
c.8067G= (p.Gln2689=)
c.8016G= (p.Gln2672=)
c.7833G= (p.Gln2611=)
c.7554G= (p.Gln2518=)
c.6597G= (p.Gln2199=)
c.6588G= (p.Gln2196=)
n.11991C=
5g.37064691G>TCA359522568CPLANE1,NIPBLc.8214G>T (p.Gln2738His)
c.*158G>T (n.*158G>T)
n.2137G>T
c.114G>T (p.Gln38His)
c.*668G>T (n.*668G>T)
c.7470G>T (p.Gln2490His)
c.8067G>T (p.Gln2689His)
c.8016G>T (p.Gln2672His)
c.7833G>T (p.Gln2611His)
c.7554G>T (p.Gln2518His)
c.6597G>T (p.Gln2199His)
c.6588G>T (p.Gln2196His)
n.11991C>A
5g.37064692T>ACA359522572CPLANE1,NIPBLc.8215T>A (p.Trp2739Arg)
c.*159T>A (n.*159T>A)
n.2138T>A
c.115T>A (p.Trp39Arg)
c.*669T>A (n.*669T>A)
c.7471T>A (p.Trp2491Arg)
c.8068T>A (p.Trp2690Arg)
c.8017T>A (p.Trp2673Arg)
c.7834T>A (p.Trp2612Arg)
c.7555T>A (p.Trp2519Arg)
c.6598T>A (p.Trp2200Arg)
c.6589T>A (p.Trp2197Arg)
n.11990A>T
 gnomAD v4
5g.37064692T>CCA359522571CPLANE1,NIPBLc.8215T>C (p.Trp2739Arg)
c.*159T>C (n.*159T>C)
n.2138T>C
c.115T>C (p.Trp39Arg)
c.*669T>C (n.*669T>C)
c.7471T>C (p.Trp2491Arg)
c.8068T>C (p.Trp2690Arg)
c.8017T>C (p.Trp2673Arg)
c.7834T>C (p.Trp2612Arg)
c.7555T>C (p.Trp2519Arg)
c.6598T>C (p.Trp2200Arg)
c.6589T>C (p.Trp2197Arg)
n.11990A>G
5g.37064692T>GCA359522570CPLANE1,NIPBLc.8215T>G (p.Trp2739Gly)
c.*159T>G (n.*159T>G)
n.2138T>G
c.115T>G (p.Trp39Gly)
c.*669T>G (n.*669T>G)
c.7471T>G (p.Trp2491Gly)
c.8068T>G (p.Trp2690Gly)
c.8017T>G (p.Trp2673Gly)
c.7834T>G (p.Trp2612Gly)
c.7555T>G (p.Trp2519Gly)
c.6598T>G (p.Trp2200Gly)
c.6589T>G (p.Trp2197Gly)
n.11990A>C
5g.37064693G>ACA359522575CPLANE1,NIPBLc.8216G>A (p.Trp2739Ter)
c.*160G>A (n.*160G>A)
n.2139G>A
c.116G>A (p.Trp39Ter)
c.*670G>A (n.*670G>A)
c.7472G>A (p.Trp2491Ter)
c.8069G>A (p.Trp2690Ter)
c.8018G>A (p.Trp2673Ter)
c.7835G>A (p.Trp2612Ter)
c.7556G>A (p.Trp2519Ter)
c.6599G>A (p.Trp2200Ter)
c.6590G>A (p.Trp2197Ter)
n.11989C>T
5g.37064693G>CCA359522574CPLANE1,NIPBLc.8216G>C (p.Trp2739Ser)
c.*160G>C (n.*160G>C)
n.2139G>C
c.116G>C (p.Trp39Ser)
c.*670G>C (n.*670G>C)
c.7472G>C (p.Trp2491Ser)
c.8069G>C (p.Trp2690Ser)
c.8018G>C (p.Trp2673Ser)
c.7835G>C (p.Trp2612Ser)
c.7556G>C (p.Trp2519Ser)
c.6599G>C (p.Trp2200Ser)
c.6590G>C (p.Trp2197Ser)
n.11989C>G
5g.37064693G>TCA359522577CPLANE1,NIPBLc.8216G>T (p.Trp2739Leu)
c.*160G>T (n.*160G>T)
n.2139G>T
c.116G>T (p.Trp39Leu)
c.*670G>T (n.*670G>T)
c.7472G>T (p.Trp2491Leu)
c.8069G>T (p.Trp2690Leu)
c.8018G>T (p.Trp2673Leu)
c.7835G>T (p.Trp2612Leu)
c.7556G>T (p.Trp2519Leu)
c.6599G>T (p.Trp2200Leu)
c.6590G>T (p.Trp2197Leu)
n.11989C>A
5g.37064694G>ACA359522580CPLANE1,NIPBLc.8217G>A (p.Trp2739Ter)
c.*161G>A (n.*161G>A)
n.2140G>A
c.117G>A (p.Trp39Ter)
c.*671G>A (n.*671G>A)
c.7473G>A (p.Trp2491Ter)
c.8070G>A (p.Trp2690Ter)
c.8019G>A (p.Trp2673Ter)
c.7836G>A (p.Trp2612Ter)
c.7557G>A (p.Trp2519Ter)
c.6600G>A (p.Trp2200Ter)
c.6591G>A (p.Trp2197Ter)
n.11988C>T
 COSMIC
5g.37064694G>CCA359522582CPLANE1,NIPBLc.8217G>C (p.Trp2739Cys)
c.*161G>C (n.*161G>C)
n.2140G>C
c.117G>C (p.Trp39Cys)
c.*671G>C (n.*671G>C)
c.7473G>C (p.Trp2491Cys)
c.8070G>C (p.Trp2690Cys)
c.8019G>C (p.Trp2673Cys)
c.7836G>C (p.Trp2612Cys)
c.7557G>C (p.Trp2519Cys)
c.6600G>C (p.Trp2200Cys)
c.6591G>C (p.Trp2197Cys)
n.11988C>G
5g.37064694G>TCA359522585CPLANE1,NIPBLc.8217G>T (p.Trp2739Cys)
c.*161G>T (n.*161G>T)
n.2140G>T
c.117G>T (p.Trp39Cys)
c.*671G>T (n.*671G>T)
c.7473G>T (p.Trp2491Cys)
c.8070G>T (p.Trp2690Cys)
c.8019G>T (p.Trp2673Cys)
c.7836G>T (p.Trp2612Cys)
c.7557G>T (p.Trp2519Cys)
c.6600G>T (p.Trp2200Cys)
c.6591G>T (p.Trp2197Cys)
n.11988C>A
5g.37064695A=CA1539590418CPLANE1,NIPBLc.8218A= (p.Met2740=)
c.*162A= (n.*162A=)
n.2141A=
c.118A= (p.Met40=)
c.*672A= (n.*672A=)
c.7474A= (p.Met2492=)
c.8071A= (p.Met2691=)
c.8020A= (p.Met2674=)
c.7837A= (p.Met2613=)
c.7558A= (p.Met2520=)
c.6601A= (p.Met2201=)
c.6592A= (p.Met2198=)
n.11987T=
5g.37064695A>CCA3237345CPLANE1,NIPBLc.8218A>C (p.Met2740Leu)
c.*162A>C (n.*162A>C)
n.2141A>C
c.118A>C (p.Met40Leu)
c.*672A>C (n.*672A>C)
c.7474A>C (p.Met2492Leu)
c.8071A>C (p.Met2691Leu)
c.8020A>C (p.Met2674Leu)
c.7837A>C (p.Met2613Leu)
c.7558A>C (p.Met2520Leu)
c.6601A>C (p.Met2201Leu)
c.6592A>C (p.Met2198Leu)
n.11987T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37064695A>GCA359522587CPLANE1,NIPBLc.8218A>G (p.Met2740Val)
c.*162A>G (n.*162A>G)
n.2141A>G
c.118A>G (p.Met40Val)
c.*672A>G (n.*672A>G)
c.7474A>G (p.Met2492Val)
c.8071A>G (p.Met2691Val)
c.8020A>G (p.Met2674Val)
c.7837A>G (p.Met2613Val)
c.7558A>G (p.Met2520Val)
c.6601A>G (p.Met2201Val)
c.6592A>G (p.Met2198Val)
n.11987T>C
5g.37064695A>TCA359522589CPLANE1,NIPBLc.8218A>T (p.Met2740Leu)
c.*162A>T (n.*162A>T)
n.2141A>T
c.118A>T (p.Met40Leu)
c.*672A>T (n.*672A>T)
c.7474A>T (p.Met2492Leu)
c.8071A>T (p.Met2691Leu)
c.8020A>T (p.Met2674Leu)
c.7837A>T (p.Met2613Leu)
c.7558A>T (p.Met2520Leu)
c.6601A>T (p.Met2201Leu)
c.6592A>T (p.Met2198Leu)
n.11987T>A
5g.37064696T>ACA359522590CPLANE1,NIPBLc.8219T>A (p.Met2740Lys)
c.*163T>A (n.*163T>A)
n.2142T>A
c.119T>A (p.Met40Lys)
c.*673T>A (n.*673T>A)
c.7475T>A (p.Met2492Lys)
c.8072T>A (p.Met2691Lys)
c.8021T>A (p.Met2674Lys)
c.7838T>A (p.Met2613Lys)
c.7559T>A (p.Met2520Lys)
c.6602T>A (p.Met2201Lys)
c.6593T>A (p.Met2198Lys)
n.11986A>T
5g.37064696T>CCA359522591CPLANE1,NIPBLc.8219T>C (p.Met2740Thr)
c.*163T>C (n.*163T>C)
n.2142T>C
c.119T>C (p.Met40Thr)
c.*673T>C (n.*673T>C)
c.7475T>C (p.Met2492Thr)
c.8072T>C (p.Met2691Thr)
c.8021T>C (p.Met2674Thr)
c.7838T>C (p.Met2613Thr)
c.7559T>C (p.Met2520Thr)
c.6602T>C (p.Met2201Thr)
c.6593T>C (p.Met2198Thr)
n.11986A>G
5g.37064696T>GCA359522593CPLANE1,NIPBLc.8219T>G (p.Met2740Arg)
c.*163T>G (n.*163T>G)
n.2142T>G
c.119T>G (p.Met40Arg)
c.*673T>G (n.*673T>G)
c.7475T>G (p.Met2492Arg)
c.8072T>G (p.Met2691Arg)
c.8021T>G (p.Met2674Arg)
c.7838T>G (p.Met2613Arg)
c.7559T>G (p.Met2520Arg)
c.6602T>G (p.Met2201Arg)
c.6593T>G (p.Met2198Arg)
n.11986A>C
5g.37064697G>ACA359522594CPLANE1,NIPBLc.8220G>A (p.Met2740Ile)
c.*164G>A (n.*164G>A)
n.2143G>A
c.120G>A (p.Met40Ile)
c.*674G>A (n.*674G>A)
c.7476G>A (p.Met2492Ile)
c.8073G>A (p.Met2691Ile)
c.8022G>A (p.Met2674Ile)
c.7839G>A (p.Met2613Ile)
c.7560G>A (p.Met2520Ile)
c.6603G>A (p.Met2201Ile)
c.6594G>A (p.Met2198Ile)
n.11985C>T
5g.37064697G>CCA359522596CPLANE1,NIPBLc.8220G>C (p.Met2740Ile)
c.*164G>C (n.*164G>C)
n.2143G>C
c.120G>C (p.Met40Ile)
c.*674G>C (n.*674G>C)
c.7476G>C (p.Met2492Ile)
c.8073G>C (p.Met2691Ile)
c.8022G>C (p.Met2674Ile)
c.7839G>C (p.Met2613Ile)
c.7560G>C (p.Met2520Ile)
c.6603G>C (p.Met2201Ile)
c.6594G>C (p.Met2198Ile)
n.11985C>G
5g.37064697G>TCA359522597CPLANE1,NIPBLc.8220G>T (p.Met2740Ile)
c.*164G>T (n.*164G>T)
n.2143G>T
c.120G>T (p.Met40Ile)
c.*674G>T (n.*674G>T)
c.7476G>T (p.Met2492Ile)
c.8073G>T (p.Met2691Ile)
c.8022G>T (p.Met2674Ile)
c.7839G>T (p.Met2613Ile)
c.7560G>T (p.Met2520Ile)
c.6603G>T (p.Met2201Ile)
c.6594G>T (p.Met2198Ile)
n.11985C>A
 COSMIC
5g.37064698G>ACA359522602CPLANE1,NIPBLc.8221G>A (p.Ala2741Thr)
c.*165G>A (n.*165G>A)
n.2144G>A
c.121G>A (p.Ala41Thr)
c.*675G>A (n.*675G>A)
c.7477G>A (p.Ala2493Thr)
c.8074G>A (p.Ala2692Thr)
c.8023G>A (p.Ala2675Thr)
c.7840G>A (p.Ala2614Thr)
c.7561G>A (p.Ala2521Thr)
c.6604G>A (p.Ala2202Thr)
c.6595G>A (p.Ala2199Thr)
n.11984C>T
 COSMIC
5g.37064698G>CCA359522601CPLANE1,NIPBLc.8221G>C (p.Ala2741Pro)
c.*165G>C (n.*165G>C)
n.2144G>C
c.121G>C (p.Ala41Pro)
c.*675G>C (n.*675G>C)
c.7477G>C (p.Ala2493Pro)
c.8074G>C (p.Ala2692Pro)
c.8023G>C (p.Ala2675Pro)
c.7840G>C (p.Ala2614Pro)
c.7561G>C (p.Ala2521Pro)
c.6604G>C (p.Ala2202Pro)
c.6595G>C (p.Ala2199Pro)
n.11984C>G
5g.37064698G>TCA359522599CPLANE1,NIPBLc.8221G>T (p.Ala2741Ser)
c.*165G>T (n.*165G>T)
n.2144G>T
c.121G>T (p.Ala41Ser)
c.*675G>T (n.*675G>T)
c.7477G>T (p.Ala2493Ser)
c.8074G>T (p.Ala2692Ser)
c.8023G>T (p.Ala2675Ser)
c.7840G>T (p.Ala2614Ser)
c.7561G>T (p.Ala2521Ser)
c.6604G>T (p.Ala2202Ser)
c.6595G>T (p.Ala2199Ser)
n.11984C>A
5g.37064699C>ACA359522603CPLANE1,NIPBLc.8222C>A (p.Ala2741Glu)
c.*166C>A (n.*166C>A)
n.2145C>A
c.122C>A (p.Ala41Glu)
c.*676C>A (n.*676C>A)
c.7478C>A (p.Ala2493Glu)
c.8075C>A (p.Ala2692Glu)
c.8024C>A (p.Ala2675Glu)
c.7841C>A (p.Ala2614Glu)
c.7562C>A (p.Ala2521Glu)
c.6605C>A (p.Ala2202Glu)
c.6596C>A (p.Ala2199Glu)
n.11983G>T
5g.37064699C>GCA359522605CPLANE1,NIPBLc.8222C>G (p.Ala2741Gly)
c.*166C>G (n.*166C>G)
n.2145C>G
c.122C>G (p.Ala41Gly)
c.*676C>G (n.*676C>G)
c.7478C>G (p.Ala2493Gly)
c.8075C>G (p.Ala2692Gly)
c.8024C>G (p.Ala2675Gly)
c.7841C>G (p.Ala2614Gly)
c.7562C>G (p.Ala2521Gly)
c.6605C>G (p.Ala2202Gly)
c.6596C>G (p.Ala2199Gly)
n.11983G>C
5g.37064699C>TCA359522606CPLANE1,NIPBLc.8222C>T (p.Ala2741Val)
c.*166C>T (n.*166C>T)
n.2145C>T
c.122C>T (p.Ala41Val)
c.*676C>T (n.*676C>T)
c.7478C>T (p.Ala2493Val)
c.8075C>T (p.Ala2692Val)
c.8024C>T (p.Ala2675Val)
c.7841C>T (p.Ala2614Val)
c.7562C>T (p.Ala2521Val)
c.6605C>T (p.Ala2202Val)
c.6596C>T (p.Ala2199Val)
n.11983G>A
5g.37064700A>CCA444096519CPLANE1,NIPBLc.8223A>C (p.Ala2741=)
c.*167A>C (n.*167A>C)
n.2146A>C
c.123A>C (p.Ala41=)
c.*677A>C (n.*677A>C)
c.7479A>C (p.Ala2493=)
c.8076A>C (p.Ala2692=)
c.8025A>C (p.Ala2675=)
c.7842A>C (p.Ala2614=)
c.7563A>C (p.Ala2521=)
c.6606A>C (p.Ala2202=)
c.6597A>C (p.Ala2199=)
n.11982T>G
5g.37064700A>GCA444096520CPLANE1,NIPBLc.8223A>G (p.Ala2741=)
c.*167A>G (n.*167A>G)
n.2146A>G
c.123A>G (p.Ala41=)
c.*677A>G (n.*677A>G)
c.7479A>G (p.Ala2493=)
c.8076A>G (p.Ala2692=)
c.8025A>G (p.Ala2675=)
c.7842A>G (p.Ala2614=)
c.7563A>G (p.Ala2521=)
c.6606A>G (p.Ala2202=)
c.6597A>G (p.Ala2199=)
n.11982T>C
5g.37064700A>TCA444096521CPLANE1,NIPBLc.8223A>T (p.Ala2741=)
c.*167A>T (n.*167A>T)
n.2146A>T
c.123A>T (p.Ala41=)
c.*677A>T (n.*677A>T)
c.7479A>T (p.Ala2493=)
c.8076A>T (p.Ala2692=)
c.8025A>T (p.Ala2675=)
c.7842A>T (p.Ala2614=)
c.7563A>T (p.Ala2521=)
c.6606A>T (p.Ala2202=)
c.6597A>T (p.Ala2199=)
n.11982T>A
5g.37064701G>ACA359522607CPLANE1,NIPBLc.8224G>A (p.Gly2742Ser)
c.*168G>A (n.*168G>A)
n.2147G>A
c.124G>A (p.Gly42Ser)
c.*678G>A (n.*678G>A)
c.7480G>A (p.Gly2494Ser)
c.8077G>A (p.Gly2693Ser)
c.8026G>A (p.Gly2676Ser)
c.7843G>A (p.Gly2615Ser)
c.7564G>A (p.Gly2522Ser)
c.6607G>A (p.Gly2203Ser)
c.6598G>A (p.Gly2200Ser)
n.11981C>T
5g.37064701G>CCA359522608CPLANE1,NIPBLc.8224G>C (p.Gly2742Arg)
c.*168G>C (n.*168G>C)
n.2147G>C
c.124G>C (p.Gly42Arg)
c.*678G>C (n.*678G>C)
c.7480G>C (p.Gly2494Arg)
c.8077G>C (p.Gly2693Arg)
c.8026G>C (p.Gly2676Arg)
c.7843G>C (p.Gly2615Arg)
c.7564G>C (p.Gly2522Arg)
c.6607G>C (p.Gly2203Arg)
c.6598G>C (p.Gly2200Arg)
n.11981C>G
5g.37064701G>TCA359522611CPLANE1,NIPBLc.8224G>T (p.Gly2742Cys)
c.*168G>T (n.*168G>T)
n.2147G>T
c.124G>T (p.Gly42Cys)
c.*678G>T (n.*678G>T)
c.7480G>T (p.Gly2494Cys)
c.8077G>T (p.Gly2693Cys)
c.8026G>T (p.Gly2676Cys)
c.7843G>T (p.Gly2615Cys)
c.7564G>T (p.Gly2522Cys)
c.6607G>T (p.Gly2203Cys)
c.6598G>T (p.Gly2200Cys)
n.11981C>A
5g.37064702G>ACA359522612CPLANE1,NIPBLc.8225G>A (p.Gly2742Asp)
c.*169G>A (n.*169G>A)
n.2148G>A
c.125G>A (p.Gly42Asp)
c.*679G>A (n.*679G>A)
c.7481G>A (p.Gly2494Asp)
c.8078G>A (p.Gly2693Asp)
c.8027G>A (p.Gly2676Asp)
c.7844G>A (p.Gly2615Asp)
c.7565G>A (p.Gly2522Asp)
c.6608G>A (p.Gly2203Asp)
c.6599G>A (p.Gly2200Asp)
n.11980C>T
5g.37064702G>CCA359522613CPLANE1,NIPBLc.8225G>C (p.Gly2742Ala)
c.*169G>C (n.*169G>C)
n.2148G>C
c.125G>C (p.Gly42Ala)
c.*679G>C (n.*679G>C)
c.7481G>C (p.Gly2494Ala)
c.8078G>C (p.Gly2693Ala)
c.8027G>C (p.Gly2676Ala)
c.7844G>C (p.Gly2615Ala)
c.7565G>C (p.Gly2522Ala)
c.6608G>C (p.Gly2203Ala)
c.6599G>C (p.Gly2200Ala)
n.11980C>G
5g.37064702G=CA1539590428CPLANE1,NIPBLc.8225G= (p.Gly2742=)
c.*169G= (n.*169G=)
n.2148G=
c.125G= (p.Gly42=)
c.*679G= (n.*679G=)
c.7481G= (p.Gly2494=)
c.8078G= (p.Gly2693=)
c.8027G= (p.Gly2676=)
c.7844G= (p.Gly2615=)
c.7565G= (p.Gly2522=)
c.6608G= (p.Gly2203=)
c.6599G= (p.Gly2200=)
n.11980C=
5g.37064702G>TCA172762CPLANE1,NIPBLc.8225G>T (p.Gly2742Val)
c.*169G>T (n.*169G>T)
n.2148G>T
c.125G>T (p.Gly42Val)
c.*679G>T (n.*679G>T)
c.7481G>T (p.Gly2494Val)
c.8078G>T (p.Gly2693Val)
c.8027G>T (p.Gly2676Val)
c.7844G>T (p.Gly2615Val)
c.7565G>T (p.Gly2522Val)
c.6608G>T (p.Gly2203Val)
c.6599G>T (p.Gly2200Val)
n.11980C>A
 ClinVar dbSNP
5g.37064703C>ACA444096524CPLANE1,NIPBLc.8226C>A (p.Gly2742=)
c.*170C>A (n.*170C>A)
n.2149C>A
c.126C>A (p.Gly42=)
c.*680C>A (n.*680C>A)
c.7482C>A (p.Gly2494=)
c.8079C>A (p.Gly2693=)
c.8028C>A (p.Gly2676=)
c.7845C>A (p.Gly2615=)
c.7566C>A (p.Gly2522=)
c.6609C>A (p.Gly2203=)
c.6600C>A (p.Gly2200=)
n.11979G>T
5g.37064703C>GCA444096523CPLANE1,NIPBLc.8226C>G (p.Gly2742=)
c.*170C>G (n.*170C>G)
n.2149C>G
c.126C>G (p.Gly42=)
c.*680C>G (n.*680C>G)
c.7482C>G (p.Gly2494=)
c.8079C>G (p.Gly2693=)
c.8028C>G (p.Gly2676=)
c.7845C>G (p.Gly2615=)
c.7566C>G (p.Gly2522=)
c.6609C>G (p.Gly2203=)
c.6600C>G (p.Gly2200=)
n.11979G>C
5g.37064703C>TCA444096522CPLANE1,NIPBLc.8226C>T (p.Gly2742=)
c.*170C>T (n.*170C>T)
n.2149C>T
c.126C>T (p.Gly42=)
c.*680C>T (n.*680C>T)
c.7482C>T (p.Gly2494=)
c.8079C>T (p.Gly2693=)
c.8028C>T (p.Gly2676=)
c.7845C>T (p.Gly2615=)
c.7566C>T (p.Gly2522=)
c.6609C>T (p.Gly2203=)
c.6600C>T (p.Gly2200=)
n.11979G>A
5g.37064704T>ACA359522615CPLANE1,NIPBLc.8227T>A (p.Ser2743Thr)
c.*171T>A (n.*171T>A)
n.2150T>A
c.127T>A (p.Ser43Thr)
c.*681T>A (n.*681T>A)
c.7483T>A (p.Ser2495Thr)
c.8080T>A (p.Ser2694Thr)
c.8029T>A (p.Ser2677Thr)
c.7846T>A (p.Ser2616Thr)
c.7567T>A (p.Ser2523Thr)
c.6610T>A (p.Ser2204Thr)
c.6601T>A (p.Ser2201Thr)
n.11978A>T
5g.37064704T>CCA359522617CPLANE1,NIPBLc.8227T>C (p.Ser2743Pro)
c.*171T>C (n.*171T>C)
n.2150T>C
c.127T>C (p.Ser43Pro)
c.*681T>C (n.*681T>C)
c.7483T>C (p.Ser2495Pro)
c.8080T>C (p.Ser2694Pro)
c.8029T>C (p.Ser2677Pro)
c.7846T>C (p.Ser2616Pro)
c.7567T>C (p.Ser2523Pro)
c.6610T>C (p.Ser2204Pro)
c.6601T>C (p.Ser2201Pro)
n.11978A>G
5g.37064704T>GCA359522618CPLANE1,NIPBLc.8227T>G (p.Ser2743Ala)
c.*171T>G (n.*171T>G)
n.2150T>G
c.127T>G (p.Ser43Ala)
c.*681T>G (n.*681T>G)
c.7483T>G (p.Ser2495Ala)
c.8080T>G (p.Ser2694Ala)
c.8029T>G (p.Ser2677Ala)
c.7846T>G (p.Ser2616Ala)
c.7567T>G (p.Ser2523Ala)
c.6610T>G (p.Ser2204Ala)
c.6601T>G (p.Ser2201Ala)
n.11978A>C
5g.37064705C>ACA359522623CPLANE1,NIPBLc.8228C>A (p.Ser2743Tyr)
c.*172C>A (n.*172C>A)
n.2151C>A
c.128C>A (p.Ser43Tyr)
c.*682C>A (n.*682C>A)
c.7484C>A (p.Ser2495Tyr)
c.8081C>A (p.Ser2694Tyr)
c.8030C>A (p.Ser2677Tyr)
c.7847C>A (p.Ser2616Tyr)
c.7568C>A (p.Ser2523Tyr)
c.6611C>A (p.Ser2204Tyr)
c.6602C>A (p.Ser2201Tyr)
n.11977G>T
5g.37064705C>GCA359522621CPLANE1,NIPBLc.8228C>G (p.Ser2743Cys)
c.*172C>G (n.*172C>G)
n.2151C>G
c.128C>G (p.Ser43Cys)
c.*682C>G (n.*682C>G)
c.7484C>G (p.Ser2495Cys)
c.8081C>G (p.Ser2694Cys)
c.8030C>G (p.Ser2677Cys)
c.7847C>G (p.Ser2616Cys)
c.7568C>G (p.Ser2523Cys)
c.6611C>G (p.Ser2204Cys)
c.6602C>G (p.Ser2201Cys)
n.11977G>C
5g.37064705C>TCA359522620CPLANE1,NIPBLc.8228C>T (p.Ser2743Phe)
c.*172C>T (n.*172C>T)
n.2151C>T
c.128C>T (p.Ser43Phe)
c.*682C>T (n.*682C>T)
c.7484C>T (p.Ser2495Phe)
c.8081C>T (p.Ser2694Phe)
c.8030C>T (p.Ser2677Phe)
c.7847C>T (p.Ser2616Phe)
c.7568C>T (p.Ser2523Phe)
c.6611C>T (p.Ser2204Phe)
c.6602C>T (p.Ser2201Phe)
n.11977G>A
5g.37064706C>ACA444096525CPLANE1,NIPBLc.8229C>A (p.Ser2743=)
c.*173C>A (n.*173C>A)
n.2152C>A
c.129C>A (p.Ser43=)
c.*683C>A (n.*683C>A)
c.7485C>A (p.Ser2495=)
c.8082C>A (p.Ser2694=)
c.8031C>A (p.Ser2677=)
c.7848C>A (p.Ser2616=)
c.7569C>A (p.Ser2523=)
c.6612C>A (p.Ser2204=)
c.6603C>A (p.Ser2201=)
n.11976G>T
5g.37064706C=CA1539590431CPLANE1,NIPBLc.8229C= (p.Ser2743=)
c.*173C= (n.*173C=)
n.2152C=
c.129C= (p.Ser43=)
c.*683C= (n.*683C=)
c.7485C= (p.Ser2495=)
c.8082C= (p.Ser2694=)
c.8031C= (p.Ser2677=)
c.7848C= (p.Ser2616=)
c.7569C= (p.Ser2523=)
c.6612C= (p.Ser2204=)
c.6603C= (p.Ser2201=)
n.11976G=
5g.37064706C>GCA444096527CPLANE1,NIPBLc.8229C>G (p.Ser2743=)
c.*173C>G (n.*173C>G)
n.2152C>G
c.129C>G (p.Ser43=)
c.*683C>G (n.*683C>G)
c.7485C>G (p.Ser2495=)
c.8082C>G (p.Ser2694=)
c.8031C>G (p.Ser2677=)
c.7848C>G (p.Ser2616=)
c.7569C>G (p.Ser2523=)
c.6612C>G (p.Ser2204=)
c.6603C>G (p.Ser2201=)
n.11976G>C
5g.37064706C>TCA444096526CPLANE1,NIPBLc.8229C>T (p.Ser2743=)
c.*173C>T (n.*173C>T)
n.2152C>T
c.129C>T (p.Ser43=)
c.*683C>T (n.*683C>T)
c.7485C>T (p.Ser2495=)
c.8082C>T (p.Ser2694=)
c.8031C>T (p.Ser2677=)
c.7848C>T (p.Ser2616=)
c.7569C>T (p.Ser2523=)
c.6612C>T (p.Ser2204=)
c.6603C>T (p.Ser2201=)
n.11976G>A
 dbSNP
5g.37064707T>ACA359522624CPLANE1,NIPBLc.8230T>A (p.Tyr2744Asn)
c.*174T>A (n.*174T>A)
n.2153T>A
c.130T>A (p.Tyr44Asn)
c.*684T>A (n.*684T>A)
c.7486T>A (p.Tyr2496Asn)
c.8083T>A (p.Tyr2695Asn)
c.8032T>A (p.Tyr2678Asn)
c.7849T>A (p.Tyr2617Asn)
c.7570T>A (p.Tyr2524Asn)
c.6613T>A (p.Tyr2205Asn)
c.6604T>A (p.Tyr2202Asn)
n.11975A>T
5g.37064707T>CCA359522625CPLANE1,NIPBLc.8230T>C (p.Tyr2744His)
c.*174T>C (n.*174T>C)
n.2153T>C
c.130T>C (p.Tyr44His)
c.*684T>C (n.*684T>C)
c.7486T>C (p.Tyr2496His)
c.8083T>C (p.Tyr2695His)
c.8032T>C (p.Tyr2678His)
c.7849T>C (p.Tyr2617His)
c.7570T>C (p.Tyr2524His)
c.6613T>C (p.Tyr2205His)
c.6604T>C (p.Tyr2202His)
n.11975A>G
5g.37064707T>GCA359522627CPLANE1,NIPBLc.8230T>G (p.Tyr2744Asp)
c.*174T>G (n.*174T>G)
n.2153T>G
c.130T>G (p.Tyr44Asp)
c.*684T>G (n.*684T>G)
c.7486T>G (p.Tyr2496Asp)
c.8083T>G (p.Tyr2695Asp)
c.8032T>G (p.Tyr2678Asp)
c.7849T>G (p.Tyr2617Asp)
c.7570T>G (p.Tyr2524Asp)
c.6613T>G (p.Tyr2205Asp)
c.6604T>G (p.Tyr2202Asp)
n.11975A>C
5g.37064708A>CCA359522628CPLANE1,NIPBLc.8231A>C (p.Tyr2744Ser)
c.*175A>C (n.*175A>C)
n.2154A>C
c.131A>C (p.Tyr44Ser)
c.*685A>C (n.*685A>C)
c.7487A>C (p.Tyr2496Ser)
c.8084A>C (p.Tyr2695Ser)
c.8033A>C (p.Tyr2678Ser)
c.7850A>C (p.Tyr2617Ser)
c.7571A>C (p.Tyr2524Ser)
c.6614A>C (p.Tyr2205Ser)
c.6605A>C (p.Tyr2202Ser)
n.11974T>G
5g.37064708A>GCA359522630CPLANE1,NIPBLc.8231A>G (p.Tyr2744Cys)
c.*175A>G (n.*175A>G)
n.2154A>G
c.131A>G (p.Tyr44Cys)
c.*685A>G (n.*685A>G)
c.7487A>G (p.Tyr2496Cys)
c.8084A>G (p.Tyr2695Cys)
c.8033A>G (p.Tyr2678Cys)
c.7850A>G (p.Tyr2617Cys)
c.7571A>G (p.Tyr2524Cys)
c.6614A>G (p.Tyr2205Cys)
c.6605A>G (p.Tyr2202Cys)
n.11974T>C
5g.37064708A>TCA359522635CPLANE1,NIPBLc.8231A>T (p.Tyr2744Phe)
c.*175A>T (n.*175A>T)
n.2154A>T
c.131A>T (p.Tyr44Phe)
c.*685A>T (n.*685A>T)
c.7487A>T (p.Tyr2496Phe)
c.8084A>T (p.Tyr2695Phe)
c.8033A>T (p.Tyr2678Phe)
c.7850A>T (p.Tyr2617Phe)
c.7571A>T (p.Tyr2524Phe)
c.6614A>T (p.Tyr2205Phe)
c.6605A>T (p.Tyr2202Phe)
n.11974T>A
5g.37064709C>ACA359522637CPLANE1,NIPBLc.8232C>A (p.Tyr2744Ter)
c.*176C>A (n.*176C>A)
n.2155C>A
c.132C>A (p.Tyr44Ter)
c.*686C>A (n.*686C>A)
c.7488C>A (p.Tyr2496Ter)
c.8085C>A (p.Tyr2695Ter)
c.8034C>A (p.Tyr2678Ter)
c.7851C>A (p.Tyr2617Ter)
c.7572C>A (p.Tyr2524Ter)
c.6615C>A (p.Tyr2205Ter)
c.6606C>A (p.Tyr2202Ter)
n.11973G>T
5g.37064709C>GCA359522640CPLANE1,NIPBLc.8232C>G (p.Tyr2744Ter)
c.*176C>G (n.*176C>G)
n.2155C>G
c.132C>G (p.Tyr44Ter)
c.*686C>G (n.*686C>G)
c.7488C>G (p.Tyr2496Ter)
c.8085C>G (p.Tyr2695Ter)
c.8034C>G (p.Tyr2678Ter)
c.7851C>G (p.Tyr2617Ter)
c.7572C>G (p.Tyr2524Ter)
c.6615C>G (p.Tyr2205Ter)
c.6606C>G (p.Tyr2202Ter)
n.11973G>C
5g.37064709C>TCA444096528CPLANE1,NIPBLc.8232C>T (p.Tyr2744=)
c.*176C>T (n.*176C>T)
n.2155C>T
c.132C>T (p.Tyr44=)
c.*686C>T (n.*686C>T)
c.7488C>T (p.Tyr2496=)
c.8085C>T (p.Tyr2695=)
c.8034C>T (p.Tyr2678=)
c.7851C>T (p.Tyr2617=)
c.7572C>T (p.Tyr2524=)
c.6615C>T (p.Tyr2205=)
c.6606C>T (p.Tyr2202=)
n.11973G>A
5g.37064710A=CA1539590438CPLANE1,NIPBLc.8233A= (p.Ser2745=)
c.*177A= (n.*177A=)
n.2156A=
c.133A= (p.Ser45=)
c.*687A= (n.*687A=)
c.7489A= (p.Ser2497=)
c.8086A= (p.Ser2696=)
c.8035A= (p.Ser2679=)
c.7852A= (p.Ser2618=)
c.7573A= (p.Ser2525=)
c.6616A= (p.Ser2206=)
c.6607A= (p.Ser2203=)
n.11972T=
5g.37064710A>CCA3237346CPLANE1,NIPBLc.8233A>C (p.Ser2745Arg)
c.*177A>C (n.*177A>C)
n.2156A>C
c.133A>C (p.Ser45Arg)
c.*687A>C (n.*687A>C)
c.7489A>C (p.Ser2497Arg)
c.8086A>C (p.Ser2696Arg)
c.8035A>C (p.Ser2679Arg)
c.7852A>C (p.Ser2618Arg)
c.7573A>C (p.Ser2525Arg)
c.6616A>C (p.Ser2206Arg)
c.6607A>C (p.Ser2203Arg)
n.11972T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37064710A>GCA359522642CPLANE1,NIPBLc.8233A>G (p.Ser2745Gly)
c.*177A>G (n.*177A>G)
n.2156A>G
c.133A>G (p.Ser45Gly)
c.*687A>G (n.*687A>G)
c.7489A>G (p.Ser2497Gly)
c.8086A>G (p.Ser2696Gly)
c.8035A>G (p.Ser2679Gly)
c.7852A>G (p.Ser2618Gly)
c.7573A>G (p.Ser2525Gly)
c.6616A>G (p.Ser2206Gly)
c.6607A>G (p.Ser2203Gly)
n.11972T>C
5g.37064710A>TCA359522644CPLANE1,NIPBLc.8233A>T (p.Ser2745Cys)
c.*177A>T (n.*177A>T)
n.2156A>T
c.133A>T (p.Ser45Cys)
c.*687A>T (n.*687A>T)
c.7489A>T (p.Ser2497Cys)
c.8086A>T (p.Ser2696Cys)
c.8035A>T (p.Ser2679Cys)
c.7852A>T (p.Ser2618Cys)
c.7573A>T (p.Ser2525Cys)
c.6616A>T (p.Ser2206Cys)
c.6607A>T (p.Ser2203Cys)
n.11972T>A
5g.37064711G>ACA359522647CPLANE1,NIPBLc.8234G>A (p.Ser2745Asn)
c.*178G>A (n.*178G>A)
n.2157G>A
c.134G>A (p.Ser45Asn)
c.*688G>A (n.*688G>A)
c.7490G>A (p.Ser2497Asn)
c.8087G>A (p.Ser2696Asn)
c.8036G>A (p.Ser2679Asn)
c.7853G>A (p.Ser2618Asn)
c.7574G>A (p.Ser2525Asn)
c.6617G>A (p.Ser2206Asn)
c.6608G>A (p.Ser2203Asn)
n.11971C>T
 dbSNP gnomAD v2 gnomAD v4
5g.37064711G>CCA359522650CPLANE1,NIPBLc.8234G>C (p.Ser2745Thr)
c.*178G>C (n.*178G>C)
n.2157G>C
c.134G>C (p.Ser45Thr)
c.*688G>C (n.*688G>C)
c.7490G>C (p.Ser2497Thr)
c.8087G>C (p.Ser2696Thr)
c.8036G>C (p.Ser2679Thr)
c.7853G>C (p.Ser2618Thr)
c.7574G>C (p.Ser2525Thr)
c.6617G>C (p.Ser2206Thr)
c.6608G>C (p.Ser2203Thr)
n.11971C>G
5g.37064711G=CA1539590442CPLANE1,NIPBLc.8234G= (p.Ser2745=)
c.*178G= (n.*178G=)
n.2157G=
c.134G= (p.Ser45=)
c.*688G= (n.*688G=)
c.7490G= (p.Ser2497=)
c.8087G= (p.Ser2696=)
c.8036G= (p.Ser2679=)
c.7853G= (p.Ser2618=)
c.7574G= (p.Ser2525=)
c.6617G= (p.Ser2206=)
c.6608G= (p.Ser2203=)
n.11971C=
5g.37064711G>TCA359522652CPLANE1,NIPBLc.8234G>T (p.Ser2745Ile)
c.*178G>T (n.*178G>T)
n.2157G>T
c.134G>T (p.Ser45Ile)
c.*688G>T (n.*688G>T)
c.7490G>T (p.Ser2497Ile)
c.8087G>T (p.Ser2696Ile)
c.8036G>T (p.Ser2679Ile)
c.7853G>T (p.Ser2618Ile)
c.7574G>T (p.Ser2525Ile)
c.6617G>T (p.Ser2206Ile)
c.6608G>T (p.Ser2203Ile)
n.11971C>A
5g.37064712T>ACA359522653CPLANE1,NIPBLc.8235T>A (p.Ser2745Arg)
c.*179T>A (n.*179T>A)
n.2158T>A
c.135T>A (p.Ser45Arg)
c.*689T>A (n.*689T>A)
c.7491T>A (p.Ser2497Arg)
c.8088T>A (p.Ser2696Arg)
c.8037T>A (p.Ser2679Arg)
c.7854T>A (p.Ser2618Arg)
c.7575T>A (p.Ser2525Arg)
c.6618T>A (p.Ser2206Arg)
c.6609T>A (p.Ser2203Arg)
n.11970A>T
5g.37064712T>CCA444096529CPLANE1,NIPBLc.8235T>C (p.Ser2745=)
c.*179T>C (n.*179T>C)
n.2158T>C
c.135T>C (p.Ser45=)
c.*689T>C (n.*689T>C)
c.7491T>C (p.Ser2497=)
c.8088T>C (p.Ser2696=)
c.8037T>C (p.Ser2679=)
c.7854T>C (p.Ser2618=)
c.7575T>C (p.Ser2525=)
c.6618T>C (p.Ser2206=)
c.6609T>C (p.Ser2203=)
n.11970A>G
5g.37064712T>GCA359522656CPLANE1,NIPBLc.8235T>G (p.Ser2745Arg)
c.*179T>G (n.*179T>G)
n.2158T>G
c.135T>G (p.Ser45Arg)
c.*689T>G (n.*689T>G)
c.7491T>G (p.Ser2497Arg)
c.8088T>G (p.Ser2696Arg)
c.8037T>G (p.Ser2679Arg)
c.7854T>G (p.Ser2618Arg)
c.7575T>G (p.Ser2525Arg)
c.6618T>G (p.Ser2206Arg)
c.6609T>G (p.Ser2203Arg)
n.11970A>C
5g.37064713G>ACA10624607CPLANE1,NIPBLc.8236G>A (p.Gly2746Ser)
c.*180G>A (n.*180G>A)
n.2159G>A
c.136G>A (p.Gly46Ser)
c.*690G>A (n.*690G>A)
c.7492G>A (p.Gly2498Ser)
c.8089G>A (p.Gly2697Ser)
c.8038G>A (p.Gly2680Ser)
c.7855G>A (p.Gly2619Ser)
c.7576G>A (p.Gly2526Ser)
c.6619G>A (p.Gly2207Ser)
c.6610G>A (p.Gly2204Ser)
n.11969C>T
 ClinVar dbSNP
5g.37064713G>CCA359522661CPLANE1,NIPBLc.8236G>C (p.Gly2746Arg)
c.*180G>C (n.*180G>C)
n.2159G>C
c.136G>C (p.Gly46Arg)
c.*690G>C (n.*690G>C)
c.7492G>C (p.Gly2498Arg)
c.8089G>C (p.Gly2697Arg)
c.8038G>C (p.Gly2680Arg)
c.7855G>C (p.Gly2619Arg)
c.7576G>C (p.Gly2526Arg)
c.6619G>C (p.Gly2207Arg)
c.6610G>C (p.Gly2204Arg)
n.11969C>G
5g.37064713G=CA1539590447CPLANE1,NIPBLc.8236G= (p.Gly2746=)
c.*180G= (n.*180G=)
n.2159G=
c.136G= (p.Gly46=)
c.*690G= (n.*690G=)
c.7492G= (p.Gly2498=)
c.8089G= (p.Gly2697=)
c.8038G= (p.Gly2680=)
c.7855G= (p.Gly2619=)
c.7576G= (p.Gly2526=)
c.6619G= (p.Gly2207=)
c.6610G= (p.Gly2204=)
n.11969C=
5g.37064713G>TCA359522662CPLANE1,NIPBLc.8236G>T (p.Gly2746Cys)
c.*180G>T (n.*180G>T)
n.2159G>T
c.136G>T (p.Gly46Cys)
c.*690G>T (n.*690G>T)
c.7492G>T (p.Gly2498Cys)
c.8089G>T (p.Gly2697Cys)
c.8038G>T (p.Gly2680Cys)
c.7855G>T (p.Gly2619Cys)
c.7576G>T (p.Gly2526Cys)
c.6619G>T (p.Gly2207Cys)
c.6610G>T (p.Gly2204Cys)
n.11969C>A
5g.37064714G>ACA359522664CPLANE1,NIPBLc.8237G>A (p.Gly2746Asp)
c.*181G>A (n.*181G>A)
n.2160G>A
c.137G>A (p.Gly46Asp)
c.*691G>A (n.*691G>A)
c.7493G>A (p.Gly2498Asp)
c.8090G>A (p.Gly2697Asp)
c.8039G>A (p.Gly2680Asp)
c.7856G>A (p.Gly2619Asp)
c.7577G>A (p.Gly2526Asp)
c.6620G>A (p.Gly2207Asp)
c.6611G>A (p.Gly2204Asp)
n.11968C>T
5g.37064714G>CCA359522667CPLANE1,NIPBLc.8237G>C (p.Gly2746Ala)
c.*181G>C (n.*181G>C)
n.2160G>C
c.137G>C (p.Gly46Ala)
c.*691G>C (n.*691G>C)
c.7493G>C (p.Gly2498Ala)
c.8090G>C (p.Gly2697Ala)
c.8039G>C (p.Gly2680Ala)
c.7856G>C (p.Gly2619Ala)
c.7577G>C (p.Gly2526Ala)
c.6620G>C (p.Gly2207Ala)
c.6611G>C (p.Gly2204Ala)
n.11968C>G
5g.37064714G>TCA359522669CPLANE1,NIPBLc.8237G>T (p.Gly2746Val)
c.*181G>T (n.*181G>T)
n.2160G>T
c.137G>T (p.Gly46Val)
c.*691G>T (n.*691G>T)
c.7493G>T (p.Gly2498Val)
c.8090G>T (p.Gly2697Val)
c.8039G>T (p.Gly2680Val)
c.7856G>T (p.Gly2619Val)
c.7577G>T (p.Gly2526Val)
c.6620G>T (p.Gly2207Val)
c.6611G>T (p.Gly2204Val)
n.11968C>A
5g.37064715C>ACA444096532CPLANE1,NIPBLc.8238C>A (p.Gly2746=)
c.*182C>A (n.*182C>A)
n.2161C>A
c.138C>A (p.Gly46=)
c.*692C>A (n.*692C>A)
c.7494C>A (p.Gly2498=)
c.8091C>A (p.Gly2697=)
c.8040C>A (p.Gly2680=)
c.7857C>A (p.Gly2619=)
c.7578C>A (p.Gly2526=)
c.6621C>A (p.Gly2207=)
c.6612C>A (p.Gly2204=)
n.11967G>T
5g.37064715C=CA1539590453CPLANE1,NIPBLc.8238C= (p.Gly2746=)
c.*182C= (n.*182C=)
n.2161C=
c.138C= (p.Gly46=)
c.*692C= (n.*692C=)
c.7494C= (p.Gly2498=)
c.8091C= (p.Gly2697=)
c.8040C= (p.Gly2680=)
c.7857C= (p.Gly2619=)
c.7578C= (p.Gly2526=)
c.6621C= (p.Gly2207=)
c.6612C= (p.Gly2204=)
n.11967G=
5g.37064715C>GCA444096531CPLANE1,NIPBLc.8238C>G (p.Gly2746=)
c.*182C>G (n.*182C>G)
n.2161C>G
c.138C>G (p.Gly46=)
c.*692C>G (n.*692C>G)
c.7494C>G (p.Gly2498=)
c.8091C>G (p.Gly2697=)
c.8040C>G (p.Gly2680=)
c.7857C>G (p.Gly2619=)
c.7578C>G (p.Gly2526=)
c.6621C>G (p.Gly2207=)
c.6612C>G (p.Gly2204=)
n.11967G>C
5g.37064715C>TCA444096530CPLANE1,NIPBLc.8238C>T (p.Gly2746=)
c.*182C>T (n.*182C>T)
n.2161C>T
c.138C>T (p.Gly46=)
c.*692C>T (n.*692C>T)
c.7494C>T (p.Gly2498=)
c.8091C>T (p.Gly2697=)
c.8040C>T (p.Gly2680=)
c.7857C>T (p.Gly2619=)
c.7578C>T (p.Gly2526=)
c.6621C>T (p.Gly2207=)
c.6612C>T (p.Gly2204=)
n.11967G>A
 dbSNP gnomAD v4
5g.37064716T>ACA359522676CPLANE1,NIPBLc.8239T>A (p.Ser2747Thr)
c.*183T>A (n.*183T>A)
n.2162T>A
c.139T>A (p.Ser47Thr)
c.*693T>A (n.*693T>A)
c.7495T>A (p.Ser2499Thr)
c.8092T>A (p.Ser2698Thr)
c.8041T>A (p.Ser2681Thr)
c.7858T>A (p.Ser2620Thr)
c.7579T>A (p.Ser2527Thr)
c.6622T>A (p.Ser2208Thr)
c.6613T>A (p.Ser2205Thr)
n.11966A>T
5g.37064716T>CCA359522677CPLANE1,NIPBLc.8239T>C (p.Ser2747Pro)
c.*183T>C (n.*183T>C)
n.2162T>C
c.139T>C (p.Ser47Pro)
c.*693T>C (n.*693T>C)
c.7495T>C (p.Ser2499Pro)
c.8092T>C (p.Ser2698Pro)
c.8041T>C (p.Ser2681Pro)
c.7858T>C (p.Ser2620Pro)
c.7579T>C (p.Ser2527Pro)
c.6622T>C (p.Ser2208Pro)
c.6613T>C (p.Ser2205Pro)
n.11966A>G
5g.37064716T>GCA359522680CPLANE1,NIPBLc.8239T>G (p.Ser2747Ala)
c.*183T>G (n.*183T>G)
n.2162T>G
c.139T>G (p.Ser47Ala)
c.*693T>G (n.*693T>G)
c.7495T>G (p.Ser2499Ala)
c.8092T>G (p.Ser2698Ala)
c.8041T>G (p.Ser2681Ala)
c.7858T>G (p.Ser2620Ala)
c.7579T>G (p.Ser2527Ala)
c.6622T>G (p.Ser2208Ala)
c.6613T>G (p.Ser2205Ala)
n.11966A>C
5g.37064717C>ACA359522684CPLANE1,NIPBLc.8240C>A (p.Ser2747Tyr)
c.*184C>A (n.*184C>A)
n.2163C>A
c.140C>A (p.Ser47Tyr)
c.*694C>A (n.*694C>A)
c.7496C>A (p.Ser2499Tyr)
c.8093C>A (p.Ser2698Tyr)
c.8042C>A (p.Ser2681Tyr)
c.7859C>A (p.Ser2620Tyr)
c.7580C>A (p.Ser2527Tyr)
c.6623C>A (p.Ser2208Tyr)
c.6614C>A (p.Ser2205Tyr)
n.11965G>T
5g.37064717C>GCA359522686CPLANE1,NIPBLc.8240C>G (p.Ser2747Cys)
c.*184C>G (n.*184C>G)
n.2163C>G
c.140C>G (p.Ser47Cys)
c.*694C>G (n.*694C>G)
c.7496C>G (p.Ser2499Cys)
c.8093C>G (p.Ser2698Cys)
c.8042C>G (p.Ser2681Cys)
c.7859C>G (p.Ser2620Cys)
c.7580C>G (p.Ser2527Cys)
c.6623C>G (p.Ser2208Cys)
c.6614C>G (p.Ser2205Cys)
n.11965G>C
5g.37064717C>TCA359522688CPLANE1,NIPBLc.8240C>T (p.Ser2747Phe)
c.*184C>T (n.*184C>T)
n.2163C>T
c.140C>T (p.Ser47Phe)
c.*694C>T (n.*694C>T)
c.7496C>T (p.Ser2499Phe)
c.8093C>T (p.Ser2698Phe)
c.8042C>T (p.Ser2681Phe)
c.7859C>T (p.Ser2620Phe)
c.7580C>T (p.Ser2527Phe)
c.6623C>T (p.Ser2208Phe)
c.6614C>T (p.Ser2205Phe)
n.11965G>A
5g.37064718C>ACA444096533CPLANE1,NIPBLc.8241C>A (p.Ser2747=)
c.*185C>A (n.*185C>A)
n.2164C>A
c.141C>A (p.Ser47=)
c.*695C>A (n.*695C>A)
c.7497C>A (p.Ser2499=)
c.8094C>A (p.Ser2698=)
c.8043C>A (p.Ser2681=)
c.7860C>A (p.Ser2620=)
c.7581C>A (p.Ser2527=)
c.6624C>A (p.Ser2208=)
c.6615C>A (p.Ser2205=)
n.11964G>T
5g.37064718C>GCA444096534CPLANE1,NIPBLc.8241C>G (p.Ser2747=)
c.*185C>G (n.*185C>G)
n.2164C>G
c.141C>G (p.Ser47=)
c.*695C>G (n.*695C>G)
c.7497C>G (p.Ser2499=)
c.8094C>G (p.Ser2698=)
c.8043C>G (p.Ser2681=)
c.7860C>G (p.Ser2620=)
c.7581C>G (p.Ser2527=)
c.6624C>G (p.Ser2208=)
c.6615C>G (p.Ser2205=)
n.11964G>C
5g.37064718C>TCA444096535CPLANE1,NIPBLc.8241C>T (p.Ser2747=)
c.*185C>T (n.*185C>T)
n.2164C>T
c.141C>T (p.Ser47=)
c.*695C>T (n.*695C>T)
c.7497C>T (p.Ser2499=)
c.8094C>T (p.Ser2698=)
c.8043C>T (p.Ser2681=)
c.7860C>T (p.Ser2620=)
c.7581C>T (p.Ser2527=)
c.6624C>T (p.Ser2208=)
c.6615C>T (p.Ser2205=)
n.11964G>A
5g.37064719T>ACA359522694CPLANE1,NIPBLc.8242T>A (p.Trp2748Arg)
c.*186T>A (n.*186T>A)
n.2165T>A
c.142T>A (p.Trp48Arg)
c.*696T>A (n.*696T>A)
c.7498T>A (p.Trp2500Arg)
c.8095T>A (p.Trp2699Arg)
c.8044T>A (p.Trp2682Arg)
c.7861T>A (p.Trp2621Arg)
c.7582T>A (p.Trp2528Arg)
c.6625T>A (p.Trp2209Arg)
c.6616T>A (p.Trp2206Arg)
n.11963A>T
5g.37064719T>CCA359522695CPLANE1,NIPBLc.8242T>C (p.Trp2748Arg)
c.*186T>C (n.*186T>C)
n.2165T>C
c.142T>C (p.Trp48Arg)
c.*696T>C (n.*696T>C)
c.7498T>C (p.Trp2500Arg)
c.8095T>C (p.Trp2699Arg)
c.8044T>C (p.Trp2682Arg)
c.7861T>C (p.Trp2621Arg)
c.7582T>C (p.Trp2528Arg)
c.6625T>C (p.Trp2209Arg)
c.6616T>C (p.Trp2206Arg)
n.11963A>G
5g.37064719T>GCA359522691CPLANE1,NIPBLc.8242T>G (p.Trp2748Gly)
c.*186T>G (n.*186T>G)
n.2165T>G
c.142T>G (p.Trp48Gly)
c.*696T>G (n.*696T>G)
c.7498T>G (p.Trp2500Gly)
c.8095T>G (p.Trp2699Gly)
c.8044T>G (p.Trp2682Gly)
c.7861T>G (p.Trp2621Gly)
c.7582T>G (p.Trp2528Gly)
c.6625T>G (p.Trp2209Gly)
c.6616T>G (p.Trp2206Gly)
n.11963A>C
5g.37064720G>ACA359522698CPLANE1,NIPBLc.8243G>A (p.Trp2748Ter)
c.*187G>A (n.*187G>A)
n.2166G>A
c.143G>A (p.Trp48Ter)
c.*697G>A (n.*697G>A)
c.7499G>A (p.Trp2500Ter)
c.8096G>A (p.Trp2699Ter)
c.8045G>A (p.Trp2682Ter)
c.7862G>A (p.Trp2621Ter)
c.7583G>A (p.Trp2528Ter)
c.6626G>A (p.Trp2209Ter)
c.6617G>A (p.Trp2206Ter)
n.11962C>T
 ClinVar
5g.37064720G>CCA359522700CPLANE1,NIPBLc.8243G>C (p.Trp2748Ser)
c.*187G>C (n.*187G>C)
n.2166G>C
c.143G>C (p.Trp48Ser)
c.*697G>C (n.*697G>C)
c.7499G>C (p.Trp2500Ser)
c.8096G>C (p.Trp2699Ser)
c.8045G>C (p.Trp2682Ser)
c.7862G>C (p.Trp2621Ser)
c.7583G>C (p.Trp2528Ser)
c.6626G>C (p.Trp2209Ser)
c.6617G>C (p.Trp2206Ser)
n.11962C>G
5g.37064720G>TCA359522699CPLANE1,NIPBLc.8243G>T (p.Trp2748Leu)
c.*187G>T (n.*187G>T)
n.2166G>T
c.143G>T (p.Trp48Leu)
c.*697G>T (n.*697G>T)
c.7499G>T (p.Trp2500Leu)
c.8096G>T (p.Trp2699Leu)
c.8045G>T (p.Trp2682Leu)
c.7862G>T (p.Trp2621Leu)
c.7583G>T (p.Trp2528Leu)
c.6626G>T (p.Trp2209Leu)
c.6617G>T (p.Trp2206Leu)
n.11962C>A
5g.37064721G>ACA359522701CPLANE1,NIPBLc.8244G>A (p.Trp2748Ter)
c.*188G>A (n.*188G>A)
n.2167G>A
c.144G>A (p.Trp48Ter)
c.*698G>A (n.*698G>A)
c.7500G>A (p.Trp2500Ter)
c.8097G>A (p.Trp2699Ter)
c.8046G>A (p.Trp2682Ter)
c.7863G>A (p.Trp2621Ter)
c.7584G>A (p.Trp2528Ter)
c.6627G>A (p.Trp2209Ter)
c.6618G>A (p.Trp2206Ter)
n.11961C>T
5g.37064721G>CCA359522703CPLANE1,NIPBLc.8244G>C (p.Trp2748Cys)
c.*188G>C (n.*188G>C)
n.2167G>C
c.144G>C (p.Trp48Cys)
c.*698G>C (n.*698G>C)
c.7500G>C (p.Trp2500Cys)
c.8097G>C (p.Trp2699Cys)
c.8046G>C (p.Trp2682Cys)
c.7863G>C (p.Trp2621Cys)
c.7584G>C (p.Trp2528Cys)
c.6627G>C (p.Trp2209Cys)
c.6618G>C (p.Trp2206Cys)
n.11961C>G
5g.37064721G>TCA359522702CPLANE1,NIPBLc.8244G>T (p.Trp2748Cys)
c.*188G>T (n.*188G>T)
n.2167G>T
c.144G>T (p.Trp48Cys)
c.*698G>T (n.*698G>T)
c.7500G>T (p.Trp2500Cys)
c.8097G>T (p.Trp2699Cys)
c.8046G>T (p.Trp2682Cys)
c.7863G>T (p.Trp2621Cys)
c.7584G>T (p.Trp2528Cys)
c.6627G>T (p.Trp2209Cys)
c.6618G>T (p.Trp2206Cys)
n.11961C>A
5g.37064722A>CCA359522704CPLANE1,NIPBLc.8245A>C (p.Thr2749Pro)
c.*189A>C (n.*189A>C)
n.2168A>C
c.145A>C (p.Thr49Pro)
c.*699A>C (n.*699A>C)
c.7501A>C (p.Thr2501Pro)
c.8098A>C (p.Thr2700Pro)
c.8047A>C (p.Thr2683Pro)
c.7864A>C (p.Thr2622Pro)
c.7585A>C (p.Thr2529Pro)
c.6628A>C (p.Thr2210Pro)
c.6619A>C (p.Thr2207Pro)
n.11960T>G
5g.37064722A>GCA359522705CPLANE1,NIPBLc.8245A>G (p.Thr2749Ala)
c.*189A>G (n.*189A>G)
n.2168A>G
c.145A>G (p.Thr49Ala)
c.*699A>G (n.*699A>G)
c.7501A>G (p.Thr2501Ala)
c.8098A>G (p.Thr2700Ala)
c.8047A>G (p.Thr2683Ala)
c.7864A>G (p.Thr2622Ala)
c.7585A>G (p.Thr2529Ala)
c.6628A>G (p.Thr2210Ala)
c.6619A>G (p.Thr2207Ala)
n.11960T>C
5g.37064722A>TCA359522707CPLANE1,NIPBLc.8245A>T (p.Thr2749Ser)
c.*189A>T (n.*189A>T)
n.2168A>T
c.145A>T (p.Thr49Ser)
c.*699A>T (n.*699A>T)
c.7501A>T (p.Thr2501Ser)
c.8098A>T (p.Thr2700Ser)
c.8047A>T (p.Thr2683Ser)
c.7864A>T (p.Thr2622Ser)
c.7585A>T (p.Thr2529Ser)
c.6628A>T (p.Thr2210Ser)
c.6619A>T (p.Thr2207Ser)
n.11960T>A
5g.37064723C>ACA359522709CPLANE1,NIPBLc.8246C>A (p.Thr2749Asn)
c.*190C>A (n.*190C>A)
n.2169C>A
c.146C>A (p.Thr49Asn)
c.*700C>A (n.*700C>A)
c.7502C>A (p.Thr2501Asn)
c.8099C>A (p.Thr2700Asn)
c.8048C>A (p.Thr2683Asn)
c.7865C>A (p.Thr2622Asn)
c.7586C>A (p.Thr2529Asn)
c.6629C>A (p.Thr2210Asn)
c.6620C>A (p.Thr2207Asn)
n.11959G>T
5g.37064723C>GCA359522711CPLANE1,NIPBLc.8246C>G (p.Thr2749Ser)
c.*190C>G (n.*190C>G)
n.2169C>G
c.146C>G (p.Thr49Ser)
c.*700C>G (n.*700C>G)
c.7502C>G (p.Thr2501Ser)
c.8099C>G (p.Thr2700Ser)
c.8048C>G (p.Thr2683Ser)
c.7865C>G (p.Thr2622Ser)
c.7586C>G (p.Thr2529Ser)
c.6629C>G (p.Thr2210Ser)
c.6620C>G (p.Thr2207Ser)
n.11959G>C
 gnomAD v4
5g.37064723C>TCA359522714CPLANE1,NIPBLc.8246C>T (p.Thr2749Ile)
c.*190C>T (n.*190C>T)
n.2169C>T
c.146C>T (p.Thr49Ile)
c.*700C>T (n.*700C>T)
c.7502C>T (p.Thr2501Ile)
c.8099C>T (p.Thr2700Ile)
c.8048C>T (p.Thr2683Ile)
c.7865C>T (p.Thr2622Ile)
c.7586C>T (p.Thr2529Ile)
c.6629C>T (p.Thr2210Ile)
c.6620C>T (p.Thr2207Ile)
n.11959G>A
5g.37064724T>ACA444096536CPLANE1,NIPBLc.8247T>A (p.Thr2749=)
c.*191T>A (n.*191T>A)
n.2170T>A
c.147T>A (p.Thr49=)
c.*701T>A (n.*701T>A)
c.7503T>A (p.Thr2501=)
c.8100T>A (p.Thr2700=)
c.8049T>A (p.Thr2683=)
c.7866T>A (p.Thr2622=)
c.7587T>A (p.Thr2529=)
c.6630T>A (p.Thr2210=)
c.6621T>A (p.Thr2207=)
n.11958A>T
5g.37064724T>CCA444096537CPLANE1,NIPBLc.8247T>C (p.Thr2749=)
c.*191T>C (n.*191T>C)
n.2170T>C
c.147T>C (p.Thr49=)
c.*701T>C (n.*701T>C)
c.7503T>C (p.Thr2501=)
c.8100T>C (p.Thr2700=)
c.8049T>C (p.Thr2683=)
c.7866T>C (p.Thr2622=)
c.7587T>C (p.Thr2529=)
c.6630T>C (p.Thr2210=)
c.6621T>C (p.Thr2207=)
n.11958A>G
 ClinVar
5g.37064724T>GCA444096538CPLANE1,NIPBLc.8247T>G (p.Thr2749=)
c.*191T>G (n.*191T>G)
n.2170T>G
c.147T>G (p.Thr49=)
c.*701T>G (n.*701T>G)
c.7503T>G (p.Thr2501=)
c.8100T>G (p.Thr2700=)
c.8049T>G (p.Thr2683=)
c.7866T>G (p.Thr2622=)
c.7587T>G (p.Thr2529=)
c.6630T>G (p.Thr2210=)
c.6621T>G (p.Thr2207=)
n.11958A>C
 dbSNP gnomAD v2 gnomAD v4
5g.37064724T=CA1539590458CPLANE1,NIPBLc.8247T= (p.Thr2749=)
c.*191T= (n.*191T=)
n.2170T=
c.147T= (p.Thr49=)
c.*701T= (n.*701T=)
c.7503T= (p.Thr2501=)
c.8100T= (p.Thr2700=)
c.8049T= (p.Thr2683=)
c.7866T= (p.Thr2622=)
c.7587T= (p.Thr2529=)
c.6630T= (p.Thr2210=)
c.6621T= (p.Thr2207=)
n.11958A=
5g.37064725G>ACA359522716CPLANE1,NIPBLc.8248G>A (p.Glu2750Lys)
c.*192G>A (n.*192G>A)
n.2171G>A
c.148G>A (p.Glu50Lys)
c.*702G>A (n.*702G>A)
c.7504G>A (p.Glu2502Lys)
c.8101G>A (p.Glu2701Lys)
c.8050G>A (p.Glu2684Lys)
c.7867G>A (p.Glu2623Lys)
c.7588G>A (p.Glu2530Lys)
c.6631G>A (p.Glu2211Lys)
c.6622G>A (p.Glu2208Lys)
n.11957C>T
5g.37064725G>CCA359522717CPLANE1,NIPBLc.8248G>C (p.Glu2750Gln)
c.*192G>C (n.*192G>C)
n.2171G>C
c.148G>C (p.Glu50Gln)
c.*702G>C (n.*702G>C)
c.7504G>C (p.Glu2502Gln)
c.8101G>C (p.Glu2701Gln)
c.8050G>C (p.Glu2684Gln)
c.7867G>C (p.Glu2623Gln)
c.7588G>C (p.Glu2530Gln)
c.6631G>C (p.Glu2211Gln)
c.6622G>C (p.Glu2208Gln)
n.11957C>G
 dbSNP
5g.37064725G=CA1539590460CPLANE1,NIPBLc.8248G= (p.Glu2750=)
c.*192G= (n.*192G=)
n.2171G=
c.148G= (p.Glu50=)
c.*702G= (n.*702G=)
c.7504G= (p.Glu2502=)
c.8101G= (p.Glu2701=)
c.8050G= (p.Glu2684=)
c.7867G= (p.Glu2623=)
c.7588G= (p.Glu2530=)
c.6631G= (p.Glu2211=)
c.6622G= (p.Glu2208=)
n.11957C=
5g.37064725G>TCA359522720CPLANE1,NIPBLc.8248G>T (p.Glu2750Ter)
c.*192G>T (n.*192G>T)
n.2171G>T
c.148G>T (p.Glu50Ter)
c.*702G>T (n.*702G>T)
c.7504G>T (p.Glu2502Ter)
c.8101G>T (p.Glu2701Ter)
c.8050G>T (p.Glu2684Ter)
c.7867G>T (p.Glu2623Ter)
c.7588G>T (p.Glu2530Ter)
c.6631G>T (p.Glu2211Ter)
c.6622G>T (p.Glu2208Ter)
n.11957C>A
5g.37064726A>CCA359522721CPLANE1,NIPBLc.8249A>C (p.Glu2750Ala)
c.*193A>C (n.*193A>C)
n.2172A>C
c.149A>C (p.Glu50Ala)
c.*703A>C (n.*703A>C)
c.7505A>C (p.Glu2502Ala)
c.8102A>C (p.Glu2701Ala)
c.8051A>C (p.Glu2684Ala)
c.7868A>C (p.Glu2623Ala)
c.7589A>C (p.Glu2530Ala)
c.6632A>C (p.Glu2211Ala)
c.6623A>C (p.Glu2208Ala)
n.11956T>G
5g.37064726A>GCA359522722CPLANE1,NIPBLc.8249A>G (p.Glu2750Gly)
c.*193A>G (n.*193A>G)
n.2172A>G
c.149A>G (p.Glu50Gly)
c.*703A>G (n.*703A>G)
c.7505A>G (p.Glu2502Gly)
c.8102A>G (p.Glu2701Gly)
c.8051A>G (p.Glu2684Gly)
c.7868A>G (p.Glu2623Gly)
c.7589A>G (p.Glu2530Gly)
c.6632A>G (p.Glu2211Gly)
c.6623A>G (p.Glu2208Gly)
n.11956T>C
 ClinVar
5g.37064726A>TCA359522724CPLANE1,NIPBLc.8249A>T (p.Glu2750Val)
c.*193A>T (n.*193A>T)
n.2172A>T
c.149A>T (p.Glu50Val)
c.*703A>T (n.*703A>T)
c.7505A>T (p.Glu2502Val)
c.8102A>T (p.Glu2701Val)
c.8051A>T (p.Glu2684Val)
c.7868A>T (p.Glu2623Val)
c.7589A>T (p.Glu2530Val)
c.6632A>T (p.Glu2211Val)
c.6623A>T (p.Glu2208Val)
n.11956T>A
5g.37064727G>ACA3237347CPLANE1,NIPBLc.8250G>A (p.Glu2750=)
c.*194G>A (n.*194G>A)
n.2173G>A
c.150G>A (p.Glu50=)
c.*704G>A (n.*704G>A)
c.7506G>A (p.Glu2502=)
c.8103G>A (p.Glu2701=)
c.8052G>A (p.Glu2684=)
c.7869G>A (p.Glu2623=)
c.7590G>A (p.Glu2530=)
c.6633G>A (p.Glu2211=)
c.6624G>A (p.Glu2208=)
n.11955C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37064727G>CCA359522727CPLANE1,NIPBLc.8250G>C (p.Glu2750Asp)
c.*194G>C (n.*194G>C)
n.2173G>C
c.150G>C (p.Glu50Asp)
c.*704G>C (n.*704G>C)
c.7506G>C (p.Glu2502Asp)
c.8103G>C (p.Glu2701Asp)
c.8052G>C (p.Glu2684Asp)
c.7869G>C (p.Glu2623Asp)
c.7590G>C (p.Glu2530Asp)
c.6633G>C (p.Glu2211Asp)
c.6624G>C (p.Glu2208Asp)
n.11955C>G
 dbSNP gnomAD v2 gnomAD v4
5g.37064727G=CA1539590464CPLANE1,NIPBLc.8250G= (p.Glu2750=)
c.*194G= (n.*194G=)
n.2173G=
c.150G= (p.Glu50=)
c.*704G= (n.*704G=)
c.7506G= (p.Glu2502=)
c.8103G= (p.Glu2701=)
c.8052G= (p.Glu2684=)
c.7869G= (p.Glu2623=)
c.7590G= (p.Glu2530=)
c.6633G= (p.Glu2211=)
c.6624G= (p.Glu2208=)
n.11955C=
5g.37064727G>TCA359522730CPLANE1,NIPBLc.8250G>T (p.Glu2750Asp)
c.*194G>T (n.*194G>T)
n.2173G>T
c.150G>T (p.Glu50Asp)
c.*704G>T (n.*704G>T)
c.7506G>T (p.Glu2502Asp)
c.8103G>T (p.Glu2701Asp)
c.8052G>T (p.Glu2684Asp)
c.7869G>T (p.Glu2623Asp)
c.7590G>T (p.Glu2530Asp)
c.6633G>T (p.Glu2211Asp)
c.6624G>T (p.Glu2208Asp)
n.11955C>A
5g.37064728G>ACA359522732CPLANE1,NIPBLc.8251G>A (p.Ala2751Thr)
c.*195G>A (n.*195G>A)
n.2174G>A
c.151G>A (p.Ala51Thr)
c.*705G>A (n.*705G>A)
c.7507G>A (p.Ala2503Thr)
c.8104G>A (p.Ala2702Thr)
c.8053G>A (p.Ala2685Thr)
c.7870G>A (p.Ala2624Thr)
c.7591G>A (p.Ala2531Thr)
c.6634G>A (p.Ala2212Thr)
c.6625G>A (p.Ala2209Thr)
n.11954C>T
5g.37064728G>CCA359522734CPLANE1,NIPBLc.8251G>C (p.Ala2751Pro)
c.*195G>C (n.*195G>C)
n.2174G>C
c.151G>C (p.Ala51Pro)
c.*705G>C (n.*705G>C)
c.7507G>C (p.Ala2503Pro)
c.8104G>C (p.Ala2702Pro)
c.8053G>C (p.Ala2685Pro)
c.7870G>C (p.Ala2624Pro)
c.7591G>C (p.Ala2531Pro)
c.6634G>C (p.Ala2212Pro)
c.6625G>C (p.Ala2209Pro)
n.11954C>G
5g.37064728G>TCA359522737CPLANE1,NIPBLc.8251G>T (p.Ala2751Ser)
c.*195G>T (n.*195G>T)
n.2174G>T
c.151G>T (p.Ala51Ser)
c.*705G>T (n.*705G>T)
c.7507G>T (p.Ala2503Ser)
c.8104G>T (p.Ala2702Ser)
c.8053G>T (p.Ala2685Ser)
c.7870G>T (p.Ala2624Ser)
c.7591G>T (p.Ala2531Ser)
c.6634G>T (p.Ala2212Ser)
c.6625G>T (p.Ala2209Ser)
n.11954C>A
5g.37064729C>ACA359522740CPLANE1,NIPBLc.8252C>A (p.Ala2751Asp)
c.*196C>A (n.*196C>A)
n.2175C>A
c.152C>A (p.Ala51Asp)
c.*706C>A (n.*706C>A)
c.7508C>A (p.Ala2503Asp)
c.8105C>A (p.Ala2702Asp)
c.8054C>A (p.Ala2685Asp)
c.7871C>A (p.Ala2624Asp)
c.7592C>A (p.Ala2531Asp)
c.6635C>A (p.Ala2212Asp)
c.6626C>A (p.Ala2209Asp)
n.11953G>T
5g.37064729C>GCA359522741CPLANE1,NIPBLc.8252C>G (p.Ala2751Gly)
c.*196C>G (n.*196C>G)
n.2175C>G
c.152C>G (p.Ala51Gly)
c.*706C>G (n.*706C>G)
c.7508C>G (p.Ala2503Gly)
c.8105C>G (p.Ala2702Gly)
c.8054C>G (p.Ala2685Gly)
c.7871C>G (p.Ala2624Gly)
c.7592C>G (p.Ala2531Gly)
c.6635C>G (p.Ala2212Gly)
c.6626C>G (p.Ala2209Gly)
n.11953G>C
5g.37064729C>TCA359522744CPLANE1,NIPBLc.8252C>T (p.Ala2751Val)
c.*196C>T (n.*196C>T)
n.2175C>T
c.152C>T (p.Ala51Val)
c.*706C>T (n.*706C>T)
c.7508C>T (p.Ala2503Val)
c.8105C>T (p.Ala2702Val)
c.8054C>T (p.Ala2685Val)
c.7871C>T (p.Ala2624Val)
c.7592C>T (p.Ala2531Val)
c.6635C>T (p.Ala2212Val)
c.6626C>T (p.Ala2209Val)
n.11953G>A
5g.37064730T>ACA444096539CPLANE1,NIPBLc.8253T>A (p.Ala2751=)
c.*197T>A (n.*197T>A)
n.2176T>A
c.153T>A (p.Ala51=)
c.*707T>A (n.*707T>A)
c.7509T>A (p.Ala2503=)
c.8106T>A (p.Ala2702=)
c.8055T>A (p.Ala2685=)
c.7872T>A (p.Ala2624=)
c.7593T>A (p.Ala2531=)
c.6636T>A (p.Ala2212=)
c.6627T>A (p.Ala2209=)
n.11952A>T
5g.37064730T>CCA444096540CPLANE1,NIPBLc.8253T>C (p.Ala2751=)
c.*197T>C (n.*197T>C)
n.2176T>C
c.153T>C (p.Ala51=)
c.*707T>C (n.*707T>C)
c.7509T>C (p.Ala2503=)
c.8106T>C (p.Ala2702=)
c.8055T>C (p.Ala2685=)
c.7872T>C (p.Ala2624=)
c.7593T>C (p.Ala2531=)
c.6636T>C (p.Ala2212=)
c.6627T>C (p.Ala2209=)
n.11952A>G
5g.37064730T>GCA444096541CPLANE1,NIPBLc.8253T>G (p.Ala2751=)
c.*197T>G (n.*197T>G)
n.2176T>G
c.153T>G (p.Ala51=)
c.*707T>G (n.*707T>G)
c.7509T>G (p.Ala2503=)
c.8106T>G (p.Ala2702=)
c.8055T>G (p.Ala2685=)
c.7872T>G (p.Ala2624=)
c.7593T>G (p.Ala2531=)
c.6636T>G (p.Ala2212=)
c.6627T>G (p.Ala2209=)
n.11952A>C
5g.37064731A>CCA359522746CPLANE1,NIPBLc.8254A>C (p.Lys2752Gln)
c.*198A>C (n.*198A>C)
n.2177A>C
c.154A>C (p.Lys52Gln)
c.*708A>C (n.*708A>C)
c.7510A>C (p.Lys2504Gln)
c.8107A>C (p.Lys2703Gln)
c.8056A>C (p.Lys2686Gln)
c.7873A>C (p.Lys2625Gln)
c.7594A>C (p.Lys2532Gln)
c.6637A>C (p.Lys2213Gln)
c.6628A>C (p.Lys2210Gln)
n.11951T>G
5g.37064731A>GCA359522748CPLANE1,NIPBLc.8254A>G (p.Lys2752Glu)
c.*198A>G (n.*198A>G)
n.2177A>G
c.154A>G (p.Lys52Glu)
c.*708A>G (n.*708A>G)
c.7510A>G (p.Lys2504Glu)
c.8107A>G (p.Lys2703Glu)
c.8056A>G (p.Lys2686Glu)
c.7873A>G (p.Lys2625Glu)
c.7594A>G (p.Lys2532Glu)
c.6637A>G (p.Lys2213Glu)
c.6628A>G (p.Lys2210Glu)
n.11951T>C
5g.37064731A>TCA359522750CPLANE1,NIPBLc.8254A>T (p.Lys2752Ter)
c.*198A>T (n.*198A>T)
n.2177A>T
c.154A>T (p.Lys52Ter)
c.*708A>T (n.*708A>T)
c.7510A>T (p.Lys2504Ter)
c.8107A>T (p.Lys2703Ter)
c.8056A>T (p.Lys2686Ter)
c.7873A>T (p.Lys2625Ter)
c.7594A>T (p.Lys2532Ter)
c.6637A>T (p.Lys2213Ter)
c.6628A>T (p.Lys2210Ter)
n.11951T>A
5g.37064732A>CCA359522753CPLANE1,NIPBLc.8255A>C (p.Lys2752Thr)
c.*199A>C (n.*199A>C)
n.2178A>C
c.155A>C (p.Lys52Thr)
c.*709A>C (n.*709A>C)
c.7511A>C (p.Lys2504Thr)
c.8108A>C (p.Lys2703Thr)
c.8057A>C (p.Lys2686Thr)
c.7874A>C (p.Lys2625Thr)
c.7595A>C (p.Lys2532Thr)
c.6638A>C (p.Lys2213Thr)
c.6629A>C (p.Lys2210Thr)
n.11950T>G
5g.37064732A>GCA359522756CPLANE1,NIPBLc.8255A>G (p.Lys2752Arg)
c.*199A>G (n.*199A>G)
n.2178A>G
c.155A>G (p.Lys52Arg)
c.*709A>G (n.*709A>G)
c.7511A>G (p.Lys2504Arg)
c.8108A>G (p.Lys2703Arg)
c.8057A>G (p.Lys2686Arg)
c.7874A>G (p.Lys2625Arg)
c.7595A>G (p.Lys2532Arg)
c.6638A>G (p.Lys2213Arg)
c.6629A>G (p.Lys2210Arg)
n.11950T>C
5g.37064732A>TCA359522757CPLANE1,NIPBLc.8255A>T (p.Lys2752Met)
c.*199A>T (n.*199A>T)
n.2178A>T
c.155A>T (p.Lys52Met)
c.*709A>T (n.*709A>T)
c.7511A>T (p.Lys2504Met)
c.8108A>T (p.Lys2703Met)
c.8057A>T (p.Lys2686Met)
c.7874A>T (p.Lys2625Met)
c.7595A>T (p.Lys2532Met)
c.6638A>T (p.Lys2213Met)
c.6629A>T (p.Lys2210Met)
n.11950T>A
5g.37064733G>ACA444096542CPLANE1,NIPBLc.8256G>A (p.Lys2752=)
c.*200G>A (n.*200G>A)
n.2179G>A
c.156G>A (p.Lys52=)
c.*710G>A (n.*710G>A)
c.7512G>A (p.Lys2504=)
c.8109G>A (p.Lys2703=)
c.8058G>A (p.Lys2686=)
c.7875G>A (p.Lys2625=)
c.7596G>A (p.Lys2532=)
c.6639G>A (p.Lys2213=)
c.6630G>A (p.Lys2210=)
n.11949C>T
5g.37064733G>CCA359522763CPLANE1,NIPBLc.8256G>C (p.Lys2752Asn)
c.*200G>C (n.*200G>C)
n.2179G>C
c.156G>C (p.Lys52Asn)
c.*710G>C (n.*710G>C)
c.7512G>C (p.Lys2504Asn)
c.8109G>C (p.Lys2703Asn)
c.8058G>C (p.Lys2686Asn)
c.7875G>C (p.Lys2625Asn)
c.7596G>C (p.Lys2532Asn)
c.6639G>C (p.Lys2213Asn)
c.6630G>C (p.Lys2210Asn)
n.11949C>G
 dbSNP gnomAD v3 gnomAD v4
5g.37064733G=CA1539590466CPLANE1,NIPBLc.8256G= (p.Lys2752=)
c.*200G= (n.*200G=)
n.2179G=
c.156G= (p.Lys52=)
c.*710G= (n.*710G=)
c.7512G= (p.Lys2504=)
c.8109G= (p.Lys2703=)
c.8058G= (p.Lys2686=)
c.7875G= (p.Lys2625=)
c.7596G= (p.Lys2532=)
c.6639G= (p.Lys2213=)
c.6630G= (p.Lys2210=)
n.11949C=
5g.37064733G>TCA359522760CPLANE1,NIPBLc.8256G>T (p.Lys2752Asn)
c.*200G>T (n.*200G>T)
n.2179G>T
c.156G>T (p.Lys52Asn)
c.*710G>T (n.*710G>T)
c.7512G>T (p.Lys2504Asn)
c.8109G>T (p.Lys2703Asn)
c.8058G>T (p.Lys2686Asn)
c.7875G>T (p.Lys2625Asn)
c.7596G>T (p.Lys2532Asn)
c.6639G>T (p.Lys2213Asn)
c.6630G>T (p.Lys2210Asn)
n.11949C>A
5g.37064734C>ACA359522765CPLANE1,NIPBLc.8257C>A (p.Arg2753Ser)
c.*201C>A (n.*201C>A)
n.2180C>A
c.157C>A (p.Arg53Ser)
c.*711C>A (n.*711C>A)
c.7513C>A (p.Arg2505Ser)
c.8110C>A (p.Arg2704Ser)
c.8059C>A (p.Arg2687Ser)
c.7876C>A (p.Arg2626Ser)
c.7597C>A (p.Arg2533Ser)
c.6640C>A (p.Arg2214Ser)
c.6631C>A (p.Arg2211Ser)
n.11948G>T
5g.37064734C=CA1539590469CPLANE1,NIPBLc.8257C= (p.Arg2753=)
c.*201C= (n.*201C=)
n.2180C=
c.157C= (p.Arg53=)
c.*711C= (n.*711C=)
c.7513C= (p.Arg2505=)
c.8110C= (p.Arg2704=)
c.8059C= (p.Arg2687=)
c.7876C= (p.Arg2626=)
c.7597C= (p.Arg2533=)
c.6640C= (p.Arg2214=)
c.6631C= (p.Arg2211=)
n.11948G=
5g.37064734C>GCA359522766CPLANE1,NIPBLc.8257C>G (p.Arg2753Gly)
c.*201C>G (n.*201C>G)
n.2180C>G
c.157C>G (p.Arg53Gly)
c.*711C>G (n.*711C>G)
c.7513C>G (p.Arg2505Gly)
c.8110C>G (p.Arg2704Gly)
c.8059C>G (p.Arg2687Gly)
c.7876C>G (p.Arg2626Gly)
c.7597C>G (p.Arg2533Gly)
c.6640C>G (p.Arg2214Gly)
c.6631C>G (p.Arg2211Gly)
n.11948G>C
5g.37064734C>TCA117058992CPLANE1,NIPBLc.8257C>T (p.Arg2753Cys)
c.*201C>T (n.*201C>T)
n.2180C>T
c.157C>T (p.Arg53Cys)
c.*711C>T (n.*711C>T)
c.7513C>T (p.Arg2505Cys)
c.8110C>T (p.Arg2704Cys)
c.8059C>T (p.Arg2687Cys)
c.7876C>T (p.Arg2626Cys)
c.7597C>T (p.Arg2533Cys)
c.6640C>T (p.Arg2214Cys)
c.6631C>T (p.Arg2211Cys)
n.11948G>A
 dbSNP gnomAD v3 gnomAD v4
5g.37064735G>ACA359522771CPLANE1,NIPBLc.8258G>A (p.Arg2753His)
c.*202G>A (n.*202G>A)
n.2181G>A
c.158G>A (p.Arg53His)
c.*712G>A (n.*712G>A)
c.7514G>A (p.Arg2505His)
c.8111G>A (p.Arg2704His)
c.8060G>A (p.Arg2687His)
c.7877G>A (p.Arg2626His)
c.7598G>A (p.Arg2533His)
c.6641G>A (p.Arg2214His)
c.6632G>A (p.Arg2211His)
n.11947C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37064735G>CCA359522772CPLANE1,NIPBLc.8258G>C (p.Arg2753Pro)
c.*202G>C (n.*202G>C)
n.2181G>C
c.158G>C (p.Arg53Pro)
c.*712G>C (n.*712G>C)
c.7514G>C (p.Arg2505Pro)
c.8111G>C (p.Arg2704Pro)
c.8060G>C (p.Arg2687Pro)
c.7877G>C (p.Arg2626Pro)
c.7598G>C (p.Arg2533Pro)
c.6641G>C (p.Arg2214Pro)
c.6632G>C (p.Arg2211Pro)
n.11947C>G
5g.37064735G=CA1539590471CPLANE1,NIPBLc.8258G= (p.Arg2753=)
c.*202G= (n.*202G=)
n.2181G=
c.158G= (p.Arg53=)
c.*712G= (n.*712G=)
c.7514G= (p.Arg2505=)
c.8111G= (p.Arg2704=)
c.8060G= (p.Arg2687=)
c.7877G= (p.Arg2626=)
c.7598G= (p.Arg2533=)
c.6641G= (p.Arg2214=)
c.6632G= (p.Arg2211=)
n.11947C=
5g.37064735G>TCA359522780CPLANE1,NIPBLc.8258G>T (p.Arg2753Leu)
c.*202G>T (n.*202G>T)
n.2181G>T
c.158G>T (p.Arg53Leu)
c.*712G>T (n.*712G>T)
c.7514G>T (p.Arg2505Leu)
c.8111G>T (p.Arg2704Leu)
c.8060G>T (p.Arg2687Leu)
c.7877G>T (p.Arg2626Leu)
c.7598G>T (p.Arg2533Leu)
c.6641G>T (p.Arg2214Leu)
c.6632G>T (p.Arg2211Leu)
n.11947C>A
 dbSNP gnomAD v3 gnomAD v4
5g.37064736C>ACA444096543CPLANE1,NIPBLc.8259C>A (p.Arg2753=)
c.*203C>A (n.*203C>A)
n.2182C>A
c.159C>A (p.Arg53=)
c.*713C>A (n.*713C>A)
c.7515C>A (p.Arg2505=)
c.8112C>A (p.Arg2704=)
c.8061C>A (p.Arg2687=)
c.7878C>A (p.Arg2626=)
c.7599C>A (p.Arg2533=)
c.6642C>A (p.Arg2214=)
c.6633C>A (p.Arg2211=)
n.11946G>T
5g.37064736C>GCA444096545CPLANE1,NIPBLc.8259C>G (p.Arg2753=)
c.*203C>G (n.*203C>G)
n.2182C>G
c.159C>G (p.Arg53=)
c.*713C>G (n.*713C>G)
c.7515C>G (p.Arg2505=)
c.8112C>G (p.Arg2704=)
c.8061C>G (p.Arg2687=)
c.7878C>G (p.Arg2626=)
c.7599C>G (p.Arg2533=)
c.6642C>G (p.Arg2214=)
c.6633C>G (p.Arg2211=)
n.11946G>C
5g.37064736C>TCA444096544CPLANE1,NIPBLc.8259C>T (p.Arg2753=)
c.*203C>T (n.*203C>T)
n.2182C>T
c.159C>T (p.Arg53=)
c.*713C>T (n.*713C>T)
c.7515C>T (p.Arg2505=)
c.8112C>T (p.Arg2704=)
c.8061C>T (p.Arg2687=)
c.7878C>T (p.Arg2626=)
c.7599C>T (p.Arg2533=)
c.6642C>T (p.Arg2214=)
c.6633C>T (p.Arg2211=)
n.11946G>A
5g.37064737C>ACA359522790CPLANE1,NIPBLc.8260C>A (p.Arg2754Ser)
c.*204C>A (n.*204C>A)
n.2183C>A
c.160C>A (p.Arg54Ser)
c.*714C>A (n.*714C>A)
c.7516C>A (p.Arg2506Ser)
c.8113C>A (p.Arg2705Ser)
c.8062C>A (p.Arg2688Ser)
c.7879C>A (p.Arg2627Ser)
c.7600C>A (p.Arg2534Ser)
c.6643C>A (p.Arg2215Ser)
c.6634C>A (p.Arg2212Ser)
n.11945G>T
5g.37064737C>GCA359522788CPLANE1,NIPBLc.8260C>G (p.Arg2754Gly)
c.*204C>G (n.*204C>G)
n.2183C>G
c.160C>G (p.Arg54Gly)
c.*714C>G (n.*714C>G)
c.7516C>G (p.Arg2506Gly)
c.8113C>G (p.Arg2705Gly)
c.8062C>G (p.Arg2688Gly)
c.7879C>G (p.Arg2627Gly)
c.7600C>G (p.Arg2534Gly)
c.6643C>G (p.Arg2215Gly)
c.6634C>G (p.Arg2212Gly)
n.11945G>C
5g.37064737C>TCA359522786CPLANE1,NIPBLc.8260C>T (p.Arg2754Cys)
c.*204C>T (n.*204C>T)
n.2183C>T
c.160C>T (p.Arg54Cys)
c.*714C>T (n.*714C>T)
c.7516C>T (p.Arg2506Cys)
c.8113C>T (p.Arg2705Cys)
c.8062C>T (p.Arg2688Cys)
c.7879C>T (p.Arg2627Cys)
c.7600C>T (p.Arg2534Cys)
c.6643C>T (p.Arg2215Cys)
c.6634C>T (p.Arg2212Cys)
n.11945G>A
5g.37064738G>ACA359522792CPLANE1,NIPBLc.8261G>A (p.Arg2754His)
c.*205G>A (n.*205G>A)
n.2184G>A
c.161G>A (p.Arg54His)
c.*715G>A (n.*715G>A)
c.7517G>A (p.Arg2506His)
c.8114G>A (p.Arg2705His)
c.8063G>A (p.Arg2688His)
c.7880G>A (p.Arg2627His)
c.7601G>A (p.Arg2534His)
c.6644G>A (p.Arg2215His)
c.6635G>A (p.Arg2212His)
n.11944C>T
 dbSNP gnomAD v4
5g.37064738G>CCA359522795CPLANE1,NIPBLc.8261G>C (p.Arg2754Pro)
c.*205G>C (n.*205G>C)
n.2184G>C
c.161G>C (p.Arg54Pro)
c.*715G>C (n.*715G>C)
c.7517G>C (p.Arg2506Pro)
c.8114G>C (p.Arg2705Pro)
c.8063G>C (p.Arg2688Pro)
c.7880G>C (p.Arg2627Pro)
c.7601G>C (p.Arg2534Pro)
c.6644G>C (p.Arg2215Pro)
c.6635G>C (p.Arg2212Pro)
n.11944C>G
5g.37064738G>TCA359522797CPLANE1,NIPBLc.8261G>T (p.Arg2754Leu)
c.*205G>T (n.*205G>T)
n.2184G>T
c.161G>T (p.Arg54Leu)
c.*715G>T (n.*715G>T)
c.7517G>T (p.Arg2506Leu)
c.8114G>T (p.Arg2705Leu)
c.8063G>T (p.Arg2688Leu)
c.7880G>T (p.Arg2627Leu)
c.7601G>T (p.Arg2534Leu)
c.6644G>T (p.Arg2215Leu)
c.6635G>T (p.Arg2212Leu)
n.11944C>A
5g.37064739T>ACA444096546CPLANE1,NIPBLc.8262T>A (p.Arg2754=)
c.*206T>A (n.*206T>A)
n.2185T>A
c.162T>A (p.Arg54=)
c.*716T>A (n.*716T>A)
c.7518T>A (p.Arg2506=)
c.8115T>A (p.Arg2705=)
c.8064T>A (p.Arg2688=)
c.7881T>A (p.Arg2627=)
c.7602T>A (p.Arg2534=)
c.6645T>A (p.Arg2215=)
c.6636T>A (p.Arg2212=)
n.11943A>T
5g.37064739T>CCA444096547CPLANE1,NIPBLc.8262T>C (p.Arg2754=)
c.*206T>C (n.*206T>C)
n.2185T>C
c.162T>C (p.Arg54=)
c.*716T>C (n.*716T>C)
c.7518T>C (p.Arg2506=)
c.8115T>C (p.Arg2705=)
c.8064T>C (p.Arg2688=)
c.7881T>C (p.Arg2627=)
c.7602T>C (p.Arg2534=)
c.6645T>C (p.Arg2215=)
c.6636T>C (p.Arg2212=)
n.11943A>G
5g.37064739T>GCA444096548CPLANE1,NIPBLc.8262T>G (p.Arg2754=)
c.*206T>G (n.*206T>G)
n.2185T>G
c.162T>G (p.Arg54=)
c.*716T>G (n.*716T>G)
c.7518T>G (p.Arg2506=)
c.8115T>G (p.Arg2705=)
c.8064T>G (p.Arg2688=)
c.7881T>G (p.Arg2627=)
c.7602T>G (p.Arg2534=)
c.6645T>G (p.Arg2215=)
c.6636T>G (p.Arg2212=)
n.11943A>C
5g.37064740G>ACA3237348CPLANE1,NIPBLc.8263G>A (p.Asp2755Asn)
c.*207G>A (n.*207G>A)
n.2186G>A
c.163G>A (p.Asp55Asn)
c.*717G>A (n.*717G>A)
c.7519G>A (p.Asp2507Asn)
c.8116G>A (p.Asp2706Asn)
c.8065G>A (p.Asp2689Asn)
c.7882G>A (p.Asp2628Asn)
c.7603G>A (p.Asp2535Asn)
c.6646G>A (p.Asp2216Asn)
c.6637G>A (p.Asp2213Asn)
n.11942C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37064740G>CCA359522800CPLANE1,NIPBLc.8263G>C (p.Asp2755His)
c.*207G>C (n.*207G>C)
n.2186G>C
c.163G>C (p.Asp55His)
c.*717G>C (n.*717G>C)
c.7519G>C (p.Asp2507His)
c.8116G>C (p.Asp2706His)
c.8065G>C (p.Asp2689His)
c.7882G>C (p.Asp2628His)
c.7603G>C (p.Asp2535His)
c.6646G>C (p.Asp2216His)
c.6637G>C (p.Asp2213His)
n.11942C>G
5g.37064740G=CA1539590476CPLANE1,NIPBLc.8263G= (p.Asp2755=)
c.*207G= (n.*207G=)
n.2186G=
c.163G= (p.Asp55=)
c.*717G= (n.*717G=)
c.7519G= (p.Asp2507=)
c.8116G= (p.Asp2706=)
c.8065G= (p.Asp2689=)
c.7882G= (p.Asp2628=)
c.7603G= (p.Asp2535=)
c.6646G= (p.Asp2216=)
c.6637G= (p.Asp2213=)
n.11942C=
5g.37064740G>TCA359522803CPLANE1,NIPBLc.8263G>T (p.Asp2755Tyr)
c.*207G>T (n.*207G>T)
n.2186G>T
c.163G>T (p.Asp55Tyr)
c.*717G>T (n.*717G>T)
c.7519G>T (p.Asp2507Tyr)
c.8116G>T (p.Asp2706Tyr)
c.8065G>T (p.Asp2689Tyr)
c.7882G>T (p.Asp2628Tyr)
c.7603G>T (p.Asp2535Tyr)
c.6646G>T (p.Asp2216Tyr)
c.6637G>T (p.Asp2213Tyr)
n.11942C>A
5g.37064741A>CCA359522806CPLANE1,NIPBLc.8264A>C (p.Asp2755Ala)
c.*208A>C (n.*208A>C)
n.2187A>C
c.164A>C (p.Asp55Ala)
c.*718A>C (n.*718A>C)
c.7520A>C (p.Asp2507Ala)
c.8117A>C (p.Asp2706Ala)
c.8066A>C (p.Asp2689Ala)
c.7883A>C (p.Asp2628Ala)
c.7604A>C (p.Asp2535Ala)
c.6647A>C (p.Asp2216Ala)
c.6638A>C (p.Asp2213Ala)
n.11941T>G
 gnomAD v4
5g.37064741A>GCA359522810CPLANE1,NIPBLc.8264A>G (p.Asp2755Gly)
c.*208A>G (n.*208A>G)
n.2187A>G
c.164A>G (p.Asp55Gly)
c.*718A>G (n.*718A>G)
c.7520A>G (p.Asp2507Gly)
c.8117A>G (p.Asp2706Gly)
c.8066A>G (p.Asp2689Gly)
c.7883A>G (p.Asp2628Gly)
c.7604A>G (p.Asp2535Gly)
c.6647A>G (p.Asp2216Gly)
c.6638A>G (p.Asp2213Gly)
n.11941T>C
5g.37064741A>TCA359522808CPLANE1,NIPBLc.8264A>T (p.Asp2755Val)
c.*208A>T (n.*208A>T)
n.2187A>T
c.164A>T (p.Asp55Val)
c.*718A>T (n.*718A>T)
c.7520A>T (p.Asp2507Val)
c.8117A>T (p.Asp2706Val)
c.8066A>T (p.Asp2689Val)
c.7883A>T (p.Asp2628Val)
c.7604A>T (p.Asp2535Val)
c.6647A>T (p.Asp2216Val)
c.6638A>T (p.Asp2213Val)
n.11941T>A
5g.37064742T>ACA359522813CPLANE1,NIPBLc.8265T>A (p.Asp2755Glu)
c.*209T>A (n.*209T>A)
n.2188T>A
c.165T>A (p.Asp55Glu)
c.*719T>A (n.*719T>A)
c.7521T>A (p.Asp2507Glu)
c.8118T>A (p.Asp2706Glu)
c.8067T>A (p.Asp2689Glu)
c.7884T>A (p.Asp2628Glu)
c.7605T>A (p.Asp2535Glu)
c.6648T>A (p.Asp2216Glu)
c.6639T>A (p.Asp2213Glu)
n.11940A>T
5g.37064742T>CCA444096549CPLANE1,NIPBLc.8265T>C (p.Asp2755=)
c.*209T>C (n.*209T>C)
n.2188T>C
c.165T>C (p.Asp55=)
c.*719T>C (n.*719T>C)
c.7521T>C (p.Asp2507=)
c.8118T>C (p.Asp2706=)
c.8067T>C (p.Asp2689=)
c.7884T>C (p.Asp2628=)
c.7605T>C (p.Asp2535=)
c.6648T>C (p.Asp2216=)
c.6639T>C (p.Asp2213=)
n.11940A>G
5g.37064742T>GCA359522815CPLANE1,NIPBLc.8265T>G (p.Asp2755Glu)
c.*209T>G (n.*209T>G)
n.2188T>G
c.165T>G (p.Asp55Glu)
c.*719T>G (n.*719T>G)
c.7521T>G (p.Asp2507Glu)
c.8118T>G (p.Asp2706Glu)
c.8067T>G (p.Asp2689Glu)
c.7884T>G (p.Asp2628Glu)
c.7605T>G (p.Asp2535Glu)
c.6648T>G (p.Asp2216Glu)
c.6639T>G (p.Asp2213Glu)
n.11940A>C
5g.37064743G>ACA359522820CPLANE1,NIPBLc.8266G>A (p.Gly2756Ser)
c.*210G>A (n.*210G>A)
n.2189G>A
c.166G>A (p.Gly56Ser)
c.*720G>A (n.*720G>A)
c.7522G>A (p.Gly2508Ser)
c.8119G>A (p.Gly2707Ser)
c.8068G>A (p.Gly2690Ser)
c.7885G>A (p.Gly2629Ser)
c.7606G>A (p.Gly2536Ser)
c.6649G>A (p.Gly2217Ser)
c.6640G>A (p.Gly2214Ser)
n.11939C>T
5g.37064743G>CCA359522822CPLANE1,NIPBLc.8266G>C (p.Gly2756Arg)
c.*210G>C (n.*210G>C)
n.2189G>C
c.166G>C (p.Gly56Arg)
c.*720G>C (n.*720G>C)
c.7522G>C (p.Gly2508Arg)
c.8119G>C (p.Gly2707Arg)
c.8068G>C (p.Gly2690Arg)
c.7885G>C (p.Gly2629Arg)
c.7606G>C (p.Gly2536Arg)
c.6649G>C (p.Gly2217Arg)
c.6640G>C (p.Gly2214Arg)
n.11939C>G
5g.37064743G>TCA359522824CPLANE1,NIPBLc.8266G>T (p.Gly2756Cys)
c.*210G>T (n.*210G>T)
n.2189G>T
c.166G>T (p.Gly56Cys)
c.*720G>T (n.*720G>T)
c.7522G>T (p.Gly2508Cys)
c.8119G>T (p.Gly2707Cys)
c.8068G>T (p.Gly2690Cys)
c.7885G>T (p.Gly2629Cys)
c.7606G>T (p.Gly2536Cys)
c.6649G>T (p.Gly2217Cys)
c.6640G>T (p.Gly2214Cys)
n.11939C>A
5g.37064744G>ACA359522827CPLANE1,NIPBLc.8267G>A (p.Gly2756Asp)
c.*211G>A (n.*211G>A)
n.2190G>A
c.167G>A (p.Gly56Asp)
c.*721G>A (n.*721G>A)
c.7523G>A (p.Gly2508Asp)
c.8120G>A (p.Gly2707Asp)
c.8069G>A (p.Gly2690Asp)
c.7886G>A (p.Gly2629Asp)
c.7607G>A (p.Gly2536Asp)
c.6650G>A (p.Gly2217Asp)
c.6641G>A (p.Gly2214Asp)
n.11938C>T
5g.37064744G>CCA359522829CPLANE1,NIPBLc.8267G>C (p.Gly2756Ala)
c.*211G>C (n.*211G>C)
n.2190G>C
c.167G>C (p.Gly56Ala)
c.*721G>C (n.*721G>C)
c.7523G>C (p.Gly2508Ala)
c.8120G>C (p.Gly2707Ala)
c.8069G>C (p.Gly2690Ala)
c.7886G>C (p.Gly2629Ala)
c.7607G>C (p.Gly2536Ala)
c.6650G>C (p.Gly2217Ala)
c.6641G>C (p.Gly2214Ala)
n.11938C>G
5g.37064744G>TCA359522832CPLANE1,NIPBLc.8267G>T (p.Gly2756Val)
c.*211G>T (n.*211G>T)
n.2190G>T
c.167G>T (p.Gly56Val)
c.*721G>T (n.*721G>T)
c.7523G>T (p.Gly2508Val)
c.8120G>T (p.Gly2707Val)
c.8069G>T (p.Gly2690Val)
c.7886G>T (p.Gly2629Val)
c.7607G>T (p.Gly2536Val)
c.6650G>T (p.Gly2217Val)
c.6641G>T (p.Gly2214Val)
n.11938C>A
5g.37064745C>ACA444096550CPLANE1,NIPBLc.8268C>A (p.Gly2756=)
c.*212C>A (n.*212C>A)
n.2191C>A
c.168C>A (p.Gly56=)
c.*722C>A (n.*722C>A)
c.7524C>A (p.Gly2508=)
c.8121C>A (p.Gly2707=)
c.8070C>A (p.Gly2690=)
c.7887C>A (p.Gly2629=)
c.7608C>A (p.Gly2536=)
c.6651C>A (p.Gly2217=)
c.6642C>A (p.Gly2214=)
n.11937G>T
5g.37064745C=CA1539590487CPLANE1,NIPBLc.8268C= (p.Gly2756=)
c.*212C= (n.*212C=)
n.2191C=
c.168C= (p.Gly56=)
c.*722C= (n.*722C=)
c.7524C= (p.Gly2508=)
c.8121C= (p.Gly2707=)
c.8070C= (p.Gly2690=)
c.7887C= (p.Gly2629=)
c.7608C= (p.Gly2536=)
c.6651C= (p.Gly2217=)
c.6642C= (p.Gly2214=)
n.11937G=
5g.37064745C>GCA444096551CPLANE1,NIPBLc.8268C>G (p.Gly2756=)
c.*212C>G (n.*212C>G)
n.2191C>G
c.168C>G (p.Gly56=)
c.*722C>G (n.*722C>G)
c.7524C>G (p.Gly2508=)
c.8121C>G (p.Gly2707=)
c.8070C>G (p.Gly2690=)
c.7887C>G (p.Gly2629=)
c.7608C>G (p.Gly2536=)
c.6651C>G (p.Gly2217=)
c.6642C>G (p.Gly2214=)
n.11937G>C
5g.37064745C>TCA444096552CPLANE1,NIPBLc.8268C>T (p.Gly2756=)
c.*212C>T (n.*212C>T)
n.2191C>T
c.168C>T (p.Gly56=)
c.*722C>T (n.*722C>T)
c.7524C>T (p.Gly2508=)
c.8121C>T (p.Gly2707=)
c.8070C>T (p.Gly2690=)
c.7887C>T (p.Gly2629=)
c.7608C>T (p.Gly2536=)
c.6651C>T (p.Gly2217=)
c.6642C>T (p.Gly2214=)
n.11937G>A
 dbSNP gnomAD v2 gnomAD v4
5g.37064746C>ACA359522834CPLANE1,NIPBLc.8269C>A (p.Arg2757Ser)
c.*213C>A (n.*213C>A)
n.2192C>A
c.169C>A (p.Arg57Ser)
c.*723C>A (n.*723C>A)
c.7525C>A (p.Arg2509Ser)
c.8122C>A (p.Arg2708Ser)
c.8071C>A (p.Arg2691Ser)
c.7888C>A (p.Arg2630Ser)
c.7609C>A (p.Arg2537Ser)
c.6652C>A (p.Arg2218Ser)
c.6643C>A (p.Arg2215Ser)
n.11936G>T
5g.37064746C>GCA359522836CPLANE1,NIPBLc.8269C>G (p.Arg2757Gly)
c.*213C>G (n.*213C>G)
n.2192C>G
c.169C>G (p.Arg57Gly)
c.*723C>G (n.*723C>G)
c.7525C>G (p.Arg2509Gly)
c.8122C>G (p.Arg2708Gly)
c.8071C>G (p.Arg2691Gly)
c.7888C>G (p.Arg2630Gly)
c.7609C>G (p.Arg2537Gly)
c.6652C>G (p.Arg2218Gly)
c.6643C>G (p.Arg2215Gly)
n.11936G>C
5g.37064746C>TCA359522837CPLANE1,NIPBLc.8269C>T (p.Arg2757Cys)
c.*213C>T (n.*213C>T)
n.2192C>T
c.169C>T (p.Arg57Cys)
c.*723C>T (n.*723C>T)
c.7525C>T (p.Arg2509Cys)
c.8122C>T (p.Arg2708Cys)
c.8071C>T (p.Arg2691Cys)
c.7888C>T (p.Arg2630Cys)
c.7609C>T (p.Arg2537Cys)
c.6652C>T (p.Arg2218Cys)
c.6643C>T (p.Arg2215Cys)
n.11936G>A
 gnomAD v4 COSMIC
5g.37064747G>ACA117058998CPLANE1,NIPBLc.8270G>A (p.Arg2757His)
c.*214G>A (n.*214G>A)
n.2193G>A
c.170G>A (p.Arg57His)
c.*724G>A (n.*724G>A)
c.7526G>A (p.Arg2509His)
c.8123G>A (p.Arg2708His)
c.8072G>A (p.Arg2691His)
c.7889G>A (p.Arg2630His)
c.7610G>A (p.Arg2537His)
c.6653G>A (p.Arg2218His)
c.6644G>A (p.Arg2215His)
n.11935C>T
 dbSNP gnomAD v4 COSMIC
5g.37064747G>CCA359522843CPLANE1,NIPBLc.8270G>C (p.Arg2757Pro)
c.*214G>C (n.*214G>C)
n.2193G>C
c.170G>C (p.Arg57Pro)
c.*724G>C (n.*724G>C)
c.7526G>C (p.Arg2509Pro)
c.8123G>C (p.Arg2708Pro)
c.8072G>C (p.Arg2691Pro)
c.7889G>C (p.Arg2630Pro)
c.7610G>C (p.Arg2537Pro)
c.6653G>C (p.Arg2218Pro)
c.6644G>C (p.Arg2215Pro)
n.11935C>G
5g.37064747G=CA1539590496CPLANE1,NIPBLc.8270G= (p.Arg2757=)
c.*214G= (n.*214G=)
n.2193G=
c.170G= (p.Arg57=)
c.*724G= (n.*724G=)
c.7526G= (p.Arg2509=)
c.8123G= (p.Arg2708=)
c.8072G= (p.Arg2691=)
c.7889G= (p.Arg2630=)
c.7610G= (p.Arg2537=)
c.6653G= (p.Arg2218=)
c.6644G= (p.Arg2215=)
n.11935C=
5g.37064747G>TCA359522842CPLANE1,NIPBLc.8270G>T (p.Arg2757Leu)
c.*214G>T (n.*214G>T)
n.2193G>T
c.170G>T (p.Arg57Leu)
c.*724G>T (n.*724G>T)
c.7526G>T (p.Arg2509Leu)
c.8123G>T (p.Arg2708Leu)
c.8072G>T (p.Arg2691Leu)
c.7889G>T (p.Arg2630Leu)
c.7610G>T (p.Arg2537Leu)
c.6653G>T (p.Arg2218Leu)
c.6644G>T (p.Arg2215Leu)
n.11935C>A
 ClinVar dbSNP
5g.37064748C>ACA444096553CPLANE1,NIPBLc.8271C>A (p.Arg2757=)
c.*215C>A (n.*215C>A)
n.2194C>A
c.171C>A (p.Arg57=)
c.*725C>A (n.*725C>A)
c.7527C>A (p.Arg2509=)
c.8124C>A (p.Arg2708=)
c.8073C>A (p.Arg2691=)
c.7890C>A (p.Arg2630=)
c.7611C>A (p.Arg2537=)
c.6654C>A (p.Arg2218=)
c.6645C>A (p.Arg2215=)
n.11934G>T
5g.37064748C=CA1539590503CPLANE1,NIPBLc.8271C= (p.Arg2757=)
c.*215C= (n.*215C=)
n.2194C=
c.171C= (p.Arg57=)
c.*725C= (n.*725C=)
c.7527C= (p.Arg2509=)
c.8124C= (p.Arg2708=)
c.8073C= (p.Arg2691=)
c.7890C= (p.Arg2630=)
c.7611C= (p.Arg2537=)
c.6654C= (p.Arg2218=)
c.6645C= (p.Arg2215=)
n.11934G=
5g.37064748C>GCA444096554CPLANE1,NIPBLc.8271C>G (p.Arg2757=)
c.*215C>G (n.*215C>G)
n.2194C>G
c.171C>G (p.Arg57=)
c.*725C>G (n.*725C>G)
c.7527C>G (p.Arg2509=)
c.8124C>G (p.Arg2708=)
c.8073C>G (p.Arg2691=)
c.7890C>G (p.Arg2630=)
c.7611C>G (p.Arg2537=)
c.6654C>G (p.Arg2218=)
c.6645C>G (p.Arg2215=)
n.11934G>C
5g.37064748C>TCA444096555CPLANE1,NIPBLc.8271C>T (p.Arg2757=)
c.*215C>T (n.*215C>T)
n.2194C>T
c.171C>T (p.Arg57=)
c.*725C>T (n.*725C>T)
c.7527C>T (p.Arg2509=)
c.8124C>T (p.Arg2708=)
c.8073C>T (p.Arg2691=)
c.7890C>T (p.Arg2630=)
c.7611C>T (p.Arg2537=)
c.6654C>T (p.Arg2218=)
c.6645C>T (p.Arg2215=)
n.11934G>A
5g.37064749A>CCA359522845CPLANE1,NIPBLc.8272A>C (p.Lys2758Gln)
c.*216A>C (n.*216A>C)
n.2195A>C
c.172A>C (p.Lys58Gln)
c.*726A>C (n.*726A>C)
c.7528A>C (p.Lys2510Gln)
c.8125A>C (p.Lys2709Gln)
c.8074A>C (p.Lys2692Gln)
c.7891A>C (p.Lys2631Gln)
c.7612A>C (p.Lys2538Gln)
c.6655A>C (p.Lys2219Gln)
c.6646A>C (p.Lys2216Gln)
n.11933T>G
5g.37064749A>GCA359522847CPLANE1,NIPBLc.8272A>G (p.Lys2758Glu)
c.*216A>G (n.*216A>G)
n.2195A>G
c.172A>G (p.Lys58Glu)
c.*726A>G (n.*726A>G)
c.7528A>G (p.Lys2510Glu)
c.8125A>G (p.Lys2709Glu)
c.8074A>G (p.Lys2692Glu)
c.7891A>G (p.Lys2631Glu)
c.7612A>G (p.Lys2538Glu)
c.6655A>G (p.Lys2219Glu)
c.6646A>G (p.Lys2216Glu)
n.11933T>C
5g.37064749A>TCA359522846CPLANE1,NIPBLc.8272A>T (p.Lys2758Ter)
c.*216A>T (n.*216A>T)
n.2195A>T
c.172A>T (p.Lys58Ter)
c.*726A>T (n.*726A>T)
c.7528A>T (p.Lys2510Ter)
c.8125A>T (p.Lys2709Ter)
c.8074A>T (p.Lys2692Ter)
c.7891A>T (p.Lys2631Ter)
c.7612A>T (p.Lys2538Ter)
c.6655A>T (p.Lys2219Ter)
c.6646A>T (p.Lys2216Ter)
n.11933T>A
5g.37064751dupCA658683383CPLANE1,NIPBLc.8274dup (p.Leu2759ThrfsTer9)
c.*218dup (n.*218dup)
n.2197dup
c.174dup (p.Leu59ThrfsTer9)
c.*728dup (n.*728dup)
c.7530dup (p.Leu2511ThrfsTer9)
c.8127dup (p.Leu2710ThrfsTer9)
c.8076dup (p.Leu2693ThrfsTer9)
c.7893dup (p.Leu2632ThrfsTer9)
c.7614dup (p.Leu2539ThrfsTer9)
c.6657dup (p.Leu2220ThrfsTer9)
c.6648dup (p.Leu2217ThrfsTer9)
n.11933dup
 ClinVar dbSNP
5g.37064750A=CA1539590512CPLANE1,NIPBLc.8273A= (p.Lys2758=)
c.*217A= (n.*217A=)
n.2196A=
c.173A= (p.Lys58=)
c.*727A= (n.*727A=)
c.7529A= (p.Lys2510=)
c.8126A= (p.Lys2709=)
c.8075A= (p.Lys2692=)
c.7892A= (p.Lys2631=)
c.7613A= (p.Lys2538=)
c.6656A= (p.Lys2219=)
c.6647A= (p.Lys2216=)
n.11932T=
5g.37064750A>CCA359522850CPLANE1,NIPBLc.8273A>C (p.Lys2758Thr)
c.*217A>C (n.*217A>C)
n.2196A>C
c.173A>C (p.Lys58Thr)
c.*727A>C (n.*727A>C)
c.7529A>C (p.Lys2510Thr)
c.8126A>C (p.Lys2709Thr)
c.8075A>C (p.Lys2692Thr)
c.7892A>C (p.Lys2631Thr)
c.7613A>C (p.Lys2538Thr)
c.6656A>C (p.Lys2219Thr)
c.6647A>C (p.Lys2216Thr)
n.11932T>G
5g.37064750A>GCA3237349CPLANE1,NIPBLc.8273A>G (p.Lys2758Arg)
c.*217A>G (n.*217A>G)
n.2196A>G
c.173A>G (p.Lys58Arg)
c.*727A>G (n.*727A>G)
c.7529A>G (p.Lys2510Arg)
c.8126A>G (p.Lys2709Arg)
c.8075A>G (p.Lys2692Arg)
c.7892A>G (p.Lys2631Arg)
c.7613A>G (p.Lys2538Arg)
c.6656A>G (p.Lys2219Arg)
c.6647A>G (p.Lys2216Arg)
n.11932T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37064750A>TCA359522852CPLANE1,NIPBLc.8273A>T (p.Lys2758Ile)
c.*217A>T (n.*217A>T)
n.2196A>T
c.173A>T (p.Lys58Ile)
c.*727A>T (n.*727A>T)
c.7529A>T (p.Lys2510Ile)
c.8126A>T (p.Lys2709Ile)
c.8075A>T (p.Lys2692Ile)
c.7892A>T (p.Lys2631Ile)
c.7613A>T (p.Lys2538Ile)
c.6656A>T (p.Lys2219Ile)
c.6647A>T (p.Lys2216Ile)
n.11932T>A

Number of alleles fetched