Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.72108607G>ACA381723380ANAPC15,LRRC51,LRTOMT,TOMTc.459G>A (p.Val153=)
c.440G>A (p.Trp147Ter)
c.558G>A (p.Val186=)
c.437G>A (p.Trp146Ter)
c.*277G>A (n.*277G>A)
c.64-1002C>T (n.64-1002C>T)
c.319-1002C>T (n.319-1002C>T)
c.438G>A (p.Val146=)
c.783G>A (p.Val261=)
c.*212C>T (n.*212C>T)
n.836C>T
dbSNP gnomAD v3 gnomAD v4
11g.72108607G>CCA381723369ANAPC15,LRRC51,LRTOMT,TOMTc.459G>C (p.Val153=)
c.440G>C (p.Trp147Ser)
c.558G>C (p.Val186=)
c.437G>C (p.Trp146Ser)
c.*277G>C (n.*277G>C)
c.64-1002C>G (n.64-1002C>G)
c.319-1002C>G (n.319-1002C>G)
c.438G>C (p.Val146=)
c.783G>C (p.Val261=)
c.*212C>G (n.*212C>G)
n.836C>G
11g.72108607G=CA1981841015ANAPC15,LRRC51,LRTOMT,TOMTc.459G= (p.Val153=)
c.440G= (p.Trp147=)
c.558G= (p.Val186=)
c.437G= (p.Trp146=)
c.*277G= (n.*277G=)
c.64-1002C= (n.64-1002C=)
c.319-1002C= (n.319-1002C=)
c.438G= (p.Val146=)
c.783G= (p.Val261=)
c.*212C= (n.*212C=)
n.836C=
11g.72108607G>TCA381723375ANAPC15,LRRC51,LRTOMT,TOMTc.459G>T (p.Val153=)
c.440G>T (p.Trp147Leu)
c.558G>T (p.Val186=)
c.437G>T (p.Trp146Leu)
c.*277G>T (n.*277G>T)
c.64-1002C>A (n.64-1002C>A)
c.319-1002C>A (n.319-1002C>A)
c.438G>T (p.Val146=)
c.783G>T (p.Val261=)
c.*212C>A (n.*212C>A)
n.836C>A
gnomAD v4
11g.72108608G>ACA381723386ANAPC15,LRRC51,LRTOMT,TOMTc.460G>A (p.Glu154Lys)
c.441G>A (p.Trp147Ter)
c.559G>A (p.Glu187Lys)
c.438G>A (p.Trp146Ter)
c.*278G>A (n.*278G>A)
c.64-1003C>T (n.64-1003C>T)
c.319-1003C>T (n.319-1003C>T)
c.439G>A (p.Glu147Lys)
c.784G>A (p.Glu262Lys)
c.*211C>T (n.*211C>T)
n.835C>T
gnomAD v4
11g.72108608G>CCA381723389ANAPC15,LRRC51,LRTOMT,TOMTc.460G>C (p.Glu154Gln)
c.441G>C (p.Trp147Cys)
c.559G>C (p.Glu187Gln)
c.438G>C (p.Trp146Cys)
c.*278G>C (n.*278G>C)
c.64-1003C>G (n.64-1003C>G)
c.319-1003C>G (n.319-1003C>G)
c.439G>C (p.Glu147Gln)
c.784G>C (p.Glu262Gln)
c.*211C>G (n.*211C>G)
n.835C>G
11g.72108608G>TCA381723396ANAPC15,LRRC51,LRTOMT,TOMTc.460G>T (p.Glu154Ter)
c.441G>T (p.Trp147Cys)
c.559G>T (p.Glu187Ter)
c.438G>T (p.Trp146Cys)
c.*278G>T (n.*278G>T)
c.64-1003C>A (n.64-1003C>A)
c.319-1003C>A (n.319-1003C>A)
c.439G>T (p.Glu147Ter)
c.784G>T (p.Glu262Ter)
c.*211C>A (n.*211C>A)
n.835C>A
gnomAD v4
11g.72108609A=CA1981841016ANAPC15,LRRC51,LRTOMT,TOMTc.461A= (p.Glu154=)
c.442A= (p.Ser148=)
c.560A= (p.Glu187=)
c.439A= (p.Ser147=)
c.*279A= (n.*279A=)
c.64-1004T= (n.64-1004T=)
c.319-1004T= (n.319-1004T=)
c.440A= (p.Glu147=)
c.785A= (p.Glu262=)
c.*210T= (n.*210T=)
n.834T=
11g.72108609A>CCA381723404ANAPC15,LRRC51,LRTOMT,TOMTc.461A>C (p.Glu154Ala)
c.442A>C (p.Ser148Arg)
c.560A>C (p.Glu187Ala)
c.439A>C (p.Ser147Arg)
c.*279A>C (n.*279A>C)
c.64-1004T>G (n.64-1004T>G)
c.319-1004T>G (n.319-1004T>G)
c.440A>C (p.Glu147Ala)
c.785A>C (p.Glu262Ala)
c.*210T>G (n.*210T>G)
n.834T>G
11g.72108609A>GCA381723401ANAPC15,LRRC51,LRTOMT,TOMTc.461A>G (p.Glu154Gly)
c.442A>G (p.Ser148Gly)
c.560A>G (p.Glu187Gly)
c.439A>G (p.Ser147Gly)
c.*279A>G (n.*279A>G)
c.64-1004T>C (n.64-1004T>C)
c.319-1004T>C (n.319-1004T>C)
c.440A>G (p.Glu147Gly)
c.785A>G (p.Glu262Gly)
c.*210T>C (n.*210T>C)
n.834T>C
gnomAD v4
11g.72108609A>TCA381723400ANAPC15,LRRC51,LRTOMT,TOMTc.461A>T (p.Glu154Val)
c.442A>T (p.Ser148Cys)
c.560A>T (p.Glu187Val)
c.439A>T (p.Ser147Cys)
c.*279A>T (n.*279A>T)
c.64-1004T>A (n.64-1004T>A)
c.319-1004T>A (n.319-1004T>A)
c.440A>T (p.Glu147Val)
c.785A>T (p.Glu262Val)
c.*210T>A (n.*210T>A)
n.834T>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72108610G>ACA224375517ANAPC15,LRRC51,LRTOMT,TOMTc.462G>A (p.Glu154=)
c.443G>A (p.Ser148Asn)
c.561G>A (p.Glu187=)
c.440G>A (p.Ser147Asn)
c.*280G>A (n.*280G>A)
c.64-1005C>T (n.64-1005C>T)
c.319-1005C>T (n.319-1005C>T)
c.441G>A (p.Glu147=)
c.786G>A (p.Glu262=)
c.*209C>T (n.*209C>T)
n.833C>T
dbSNP gnomAD v4
11g.72108610G>CCA381723415ANAPC15,LRRC51,LRTOMT,TOMTc.462G>C (p.Glu154Asp)
c.443G>C (p.Ser148Thr)
c.561G>C (p.Glu187Asp)
c.440G>C (p.Ser147Thr)
c.*280G>C (n.*280G>C)
c.64-1005C>G (n.64-1005C>G)
c.319-1005C>G (n.319-1005C>G)
c.441G>C (p.Glu147Asp)
c.786G>C (p.Glu262Asp)
c.*209C>G (n.*209C>G)
n.833C>G
11g.72108610G=CA1981841017ANAPC15,LRRC51,LRTOMT,TOMTc.462G= (p.Glu154=)
c.443G= (p.Ser148=)
c.561G= (p.Glu187=)
c.440G= (p.Ser147=)
c.*280G= (n.*280G=)
c.64-1005C= (n.64-1005C=)
c.319-1005C= (n.319-1005C=)
c.441G= (p.Glu147=)
c.786G= (p.Glu262=)
c.*209C= (n.*209C=)
n.833C=
11g.72108610G>TCA381723433ANAPC15,LRRC51,LRTOMT,TOMTc.462G>T (p.Glu154Asp)
c.443G>T (p.Ser148Ile)
c.561G>T (p.Glu187Asp)
c.440G>T (p.Ser147Ile)
c.*280G>T (n.*280G>T)
c.64-1005C>A (n.64-1005C>A)
c.319-1005C>A (n.319-1005C>A)
c.441G>T (p.Glu147Asp)
c.786G>T (p.Glu262Asp)
c.*209C>A (n.*209C>A)
n.833C>A
gnomAD v4
11g.72108611C>ACA381723445ANAPC15,LRRC51,LRTOMT,TOMTc.463C>A (p.Leu155Ile)
c.444C>A (p.Ser148Arg)
c.562C>A (p.Leu188Ile)
c.441C>A (p.Ser147Arg)
c.*281C>A (n.*281C>A)
c.64-1006G>T (n.64-1006G>T)
c.319-1006G>T (n.319-1006G>T)
c.442C>A (p.Leu148Ile)
c.787C>A (p.Leu263Ile)
c.*208G>T (n.*208G>T)
n.832G>T
gnomAD v4
11g.72108611C=CA1981841018ANAPC15,LRRC51,LRTOMT,TOMTc.463C= (p.Leu155=)
c.444C= (p.Ser148=)
c.562C= (p.Leu188=)
c.441C= (p.Ser147=)
c.*281C= (n.*281C=)
c.64-1006G= (n.64-1006G=)
c.319-1006G= (n.319-1006G=)
c.442C= (p.Leu148=)
c.787C= (p.Leu263=)
c.*208G= (n.*208G=)
n.832G=
11g.72108611C>GCA381723457ANAPC15,LRRC51,LRTOMT,TOMTc.463C>G (p.Leu155Val)
c.444C>G (p.Ser148Arg)
c.562C>G (p.Leu188Val)
c.441C>G (p.Ser147Arg)
c.*281C>G (n.*281C>G)
c.64-1006G>C (n.64-1006G>C)
c.319-1006G>C (n.319-1006G>C)
c.442C>G (p.Leu148Val)
c.787C>G (p.Leu263Val)
c.*208G>C (n.*208G>C)
n.832G>C
gnomAD v4
11g.72108611C>TCA381723459ANAPC15,LRRC51,LRTOMT,TOMTc.463C>T (p.Leu155Phe)
c.444C>T (p.Ser148=)
c.562C>T (p.Leu188Phe)
c.441C>T (p.Ser147=)
c.*281C>T (n.*281C>T)
c.64-1006G>A (n.64-1006G>A)
c.319-1006G>A (n.319-1006G>A)
c.442C>T (p.Leu148Phe)
c.787C>T (p.Leu263Phe)
c.*208G>A (n.*208G>A)
n.832G>A
dbSNP gnomAD v2 gnomAD v4
11g.72108612T>ACA381723473ANAPC15,LRRC51,LRTOMT,TOMTc.464T>A (p.Leu155His)
c.445T>A (p.Ser149Thr)
c.563T>A (p.Leu188His)
c.442T>A (p.Ser148Thr)
c.*282T>A (n.*282T>A)
c.64-1007A>T (n.64-1007A>T)
c.319-1007A>T (n.319-1007A>T)
c.443T>A (p.Leu148His)
c.788T>A (p.Leu263His)
c.*207A>T (n.*207A>T)
n.831A>T
11g.72108612T>CCA381723487ANAPC15,LRRC51,LRTOMT,TOMTc.464T>C (p.Leu155Pro)
c.445T>C (p.Ser149Pro)
c.563T>C (p.Leu188Pro)
c.442T>C (p.Ser148Pro)
c.*282T>C (n.*282T>C)
c.64-1007A>G (n.64-1007A>G)
c.319-1007A>G (n.319-1007A>G)
c.443T>C (p.Leu148Pro)
c.788T>C (p.Leu263Pro)
c.*207A>G (n.*207A>G)
n.831A>G
gnomAD v4
11g.72108612T>GCA381723483ANAPC15,LRRC51,LRTOMT,TOMTc.464T>G (p.Leu155Arg)
c.445T>G (p.Ser149Ala)
c.563T>G (p.Leu188Arg)
c.442T>G (p.Ser148Ala)
c.*282T>G (n.*282T>G)
c.64-1007A>C (n.64-1007A>C)
c.319-1007A>C (n.319-1007A>C)
c.443T>G (p.Leu148Arg)
c.788T>G (p.Leu263Arg)
c.*207A>C (n.*207A>C)
n.831A>C
11g.72108613C>ACA381723494ANAPC15,LRRC51,LRTOMT,TOMTc.465C>A (p.Leu155=)
c.446C>A (p.Ser149Ter)
c.564C>A (p.Leu188=)
c.443C>A (p.Ser148Ter)
c.*283C>A (n.*283C>A)
c.64-1008G>T (n.64-1008G>T)
c.319-1008G>T (n.319-1008G>T)
c.444C>A (p.Leu148=)
c.789C>A (p.Leu263=)
c.*206G>T (n.*206G>T)
n.830G>T
gnomAD v4
11g.72108613C>GCA381723508ANAPC15,LRRC51,LRTOMT,TOMTc.465C>G (p.Leu155=)
c.446C>G (p.Ser149Ter)
c.564C>G (p.Leu188=)
c.443C>G (p.Ser148Ter)
c.*283C>G (n.*283C>G)
c.64-1008G>C (n.64-1008G>C)
c.319-1008G>C (n.319-1008G>C)
c.444C>G (p.Leu148=)
c.789C>G (p.Leu263=)
c.*206G>C (n.*206G>C)
n.830G>C
11g.72108613C>TCA381723511ANAPC15,LRRC51,LRTOMT,TOMTc.465C>T (p.Leu155=)
c.446C>T (p.Ser149Leu)
c.564C>T (p.Leu188=)
c.443C>T (p.Ser148Leu)
c.*283C>T (n.*283C>T)
c.64-1008G>A (n.64-1008G>A)
c.319-1008G>A (n.319-1008G>A)
c.444C>T (p.Leu148=)
c.789C>T (p.Leu263=)
c.*206G>A (n.*206G>A)
n.830G>A
gnomAD v4
11g.72108614A=CA1981841019ANAPC15,LRRC51,LRTOMT,TOMTc.466A= (p.Ile156=)
c.447A= (p.Ser149=)
c.565A= (p.Ile189=)
c.444A= (p.Ser148=)
c.*284A= (n.*284A=)
c.64-1009T= (n.64-1009T=)
c.319-1009T= (n.319-1009T=)
c.445A= (p.Ile149=)
c.790A= (p.Ile264=)
c.*205T= (n.*205T=)
n.829T=
11g.72108614A>CCA381723516ANAPC15,LRRC51,LRTOMT,TOMTc.466A>C (p.Ile156Leu)
c.447A>C (p.Ser149=)
c.565A>C (p.Ile189Leu)
c.444A>C (p.Ser148=)
c.*284A>C (n.*284A>C)
c.64-1009T>G (n.64-1009T>G)
c.319-1009T>G (n.319-1009T>G)
c.445A>C (p.Ile149Leu)
c.790A>C (p.Ile264Leu)
c.*205T>G (n.*205T>G)
n.829T>G
11g.72108614A>GCA381723518ANAPC15,LRRC51,LRTOMT,TOMTc.466A>G (p.Ile156Val)
c.447A>G (p.Ser149=)
c.565A>G (p.Ile189Val)
c.444A>G (p.Ser148=)
c.*284A>G (n.*284A>G)
c.64-1009T>C (n.64-1009T>C)
c.319-1009T>C (n.319-1009T>C)
c.445A>G (p.Ile149Val)
c.790A>G (p.Ile264Val)
c.*205T>C (n.*205T>C)
n.829T>C
dbSNP gnomAD v3 gnomAD v4
11g.72108614A>TCA381723520ANAPC15,LRRC51,LRTOMT,TOMTc.466A>T (p.Ile156Phe)
c.447A>T (p.Ser149=)
c.565A>T (p.Ile189Phe)
c.444A>T (p.Ser148=)
c.*284A>T (n.*284A>T)
c.64-1009T>A (n.64-1009T>A)
c.319-1009T>A (n.319-1009T>A)
c.445A>T (p.Ile149Phe)
c.790A>T (p.Ile264Phe)
c.*205T>A (n.*205T>A)
n.829T>A
11g.72108614_72108615delinsATCA1981841020ANAPC15,LRRC51,LRTOMT,TOMTc.466_467delinsAT (p.Ile156=)
c.447_448delinsAT (p.Ser149=)
c.565_566delinsAT (p.Ile189=)
c.444_445delinsAT (p.Ser148=)
c.*284_*285delinsAT (n.*284_*285delinsAT)
c.64-1010_64-1009delinsAT (n.64-1010_64-1009delinsAT)
c.319-1010_319-1009delinsAT (n.319-1010_319-1009delinsAT)
c.445_446delinsAT (p.Ile149=)
c.790_791delinsAT (p.Ile264=)
c.*204_*205delinsAT (n.*204_*205delinsAT)
n.828_829delinsAT
11g.72108615delCA600242748ANAPC15,LRRC51,LRTOMT,TOMTc.467del (p.Ile156ThrfsTer8)
c.448del (p.Ser150ArgfsTer?)
c.566del (p.Ile189ThrfsTer8)
c.445del (p.Ser149ArgfsTer?)
c.*285del (n.*285del)
c.64-1010del (n.64-1010del)
c.319-1010del (n.319-1010del)
c.446del (p.Ile149ThrfsTer8)
c.791del (p.Ile264ThrfsTer8)
c.*204del (n.*204del)
n.828del
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.72108615T>ACA381723523ANAPC15,LRRC51,LRTOMT,TOMTc.467T>A (p.Ile156Asn)
c.448T>A (p.Ser150Thr)
c.566T>A (p.Ile189Asn)
c.445T>A (p.Ser149Thr)
c.*285T>A (n.*285T>A)
c.64-1010A>T (n.64-1010A>T)
c.319-1010A>T (n.319-1010A>T)
c.446T>A (p.Ile149Asn)
c.791T>A (p.Ile264Asn)
c.*204A>T (n.*204A>T)
n.828A>T
gnomAD v4
11g.72108615T>CCA381723525ANAPC15,LRRC51,LRTOMT,TOMTc.467T>C (p.Ile156Thr)
c.448T>C (p.Ser150Pro)
c.566T>C (p.Ile189Thr)
c.445T>C (p.Ser149Pro)
c.*285T>C (n.*285T>C)
c.64-1010A>G (n.64-1010A>G)
c.319-1010A>G (n.319-1010A>G)
c.446T>C (p.Ile149Thr)
c.791T>C (p.Ile264Thr)
c.*204A>G (n.*204A>G)
n.828A>G
11g.72108615T>GCA381723527ANAPC15,LRRC51,LRTOMT,TOMTc.467T>G (p.Ile156Ser)
c.448T>G (p.Ser150Ala)
c.566T>G (p.Ile189Ser)
c.445T>G (p.Ser149Ala)
c.*285T>G (n.*285T>G)
c.64-1010A>C (n.64-1010A>C)
c.319-1010A>C (n.319-1010A>C)
c.446T>G (p.Ile149Ser)
c.791T>G (p.Ile264Ser)
c.*204A>C (n.*204A>C)
n.828A>C
11g.72108616C>ACA381723530ANAPC15,LRRC51,LRTOMT,TOMTc.468C>A (p.Ile156=)
c.449C>A (p.Ser150Ter)
c.567C>A (p.Ile189=)
c.446C>A (p.Ser149Ter)
c.*286C>A (n.*286C>A)
c.64-1011G>T (n.64-1011G>T)
c.319-1011G>T (n.319-1011G>T)
c.447C>A (p.Ile149=)
c.792C>A (p.Ile264=)
c.*203G>T (n.*203G>T)
n.827G>T
gnomAD v4
11g.72108616C=CA1981841021ANAPC15,LRRC51,LRTOMT,TOMTc.468C= (p.Ile156=)
c.449C= (p.Ser150=)
c.567C= (p.Ile189=)
c.446C= (p.Ser149=)
c.*286C= (n.*286C=)
c.64-1011G= (n.64-1011G=)
c.319-1011G= (n.319-1011G=)
c.447C= (p.Ile149=)
c.792C= (p.Ile264=)
c.*203G= (n.*203G=)
n.827G=
11g.72108616C>GCA381723533ANAPC15,LRRC51,LRTOMT,TOMTc.468C>G (p.Ile156Met)
c.449C>G (p.Ser150Trp)
c.567C>G (p.Ile189Met)
c.446C>G (p.Ser149Trp)
c.*286C>G (n.*286C>G)
c.64-1011G>C (n.64-1011G>C)
c.319-1011G>C (n.319-1011G>C)
c.447C>G (p.Ile149Met)
c.792C>G (p.Ile264Met)
c.*203G>C (n.*203G>C)
n.827G>C
11g.72108616C>TCA224375521ANAPC15,LRRC51,LRTOMT,TOMTc.468C>T (p.Ile156=)
c.449C>T (p.Ser150Leu)
c.567C>T (p.Ile189=)
c.446C>T (p.Ser149Leu)
c.*286C>T (n.*286C>T)
c.64-1011G>A (n.64-1011G>A)
c.319-1011G>A (n.319-1011G>A)
c.447C>T (p.Ile149=)
c.792C>T (p.Ile264=)
c.*203G>A (n.*203G>A)
n.827G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.72108617G>ACA10639357ANAPC15,LRRC51,LRTOMT,TOMTc.469G>A (p.Val157Met)
c.450G>A (p.Ser150=)
c.568G>A (p.Val190Met)
c.447G>A (p.Ser149=)
c.*287G>A (n.*287G>A)
c.64-1012C>T (n.64-1012C>T)
c.319-1012C>T (n.319-1012C>T)
c.448G>A (p.Val150Met)
c.793G>A (p.Val265Met)
c.*202C>T (n.*202C>T)
n.826C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72108617G>CCA381723542ANAPC15,LRRC51,LRTOMT,TOMTc.469G>C (p.Val157Leu)
c.450G>C (p.Ser150=)
c.568G>C (p.Val190Leu)
c.447G>C (p.Ser149=)
c.*287G>C (n.*287G>C)
c.64-1012C>G (n.64-1012C>G)
c.319-1012C>G (n.319-1012C>G)
c.448G>C (p.Val150Leu)
c.793G>C (p.Val265Leu)
c.*202C>G (n.*202C>G)
n.826C>G
11g.72108617G=CA1981841022ANAPC15,LRRC51,LRTOMT,TOMTc.469G= (p.Val157=)
c.450G= (p.Ser150=)
c.568G= (p.Val190=)
c.447G= (p.Ser149=)
c.*287G= (n.*287G=)
c.64-1012C= (n.64-1012C=)
c.319-1012C= (n.319-1012C=)
c.448G= (p.Val150=)
c.793G= (p.Val265=)
c.*202C= (n.*202C=)
n.826C=
11g.72108617G>TCA381723538ANAPC15,LRRC51,LRTOMT,TOMTc.469G>T (p.Val157Leu)
c.450G>T (p.Ser150=)
c.568G>T (p.Val190Leu)
c.447G>T (p.Ser149=)
c.*287G>T (n.*287G>T)
c.64-1012C>A (n.64-1012C>A)
c.319-1012C>A (n.319-1012C>A)
c.448G>T (p.Val150Leu)
c.793G>T (p.Val265Leu)
c.*202C>A (n.*202C>A)
n.826C>A
gnomAD v4
11g.72108618_72108620delCA2574912156ANAPC15,LRRC51,LRTOMT,TOMTc.470_472del (p.Val157del)
c.451_453del (p.Trp151del)
c.569_571del (p.Val190del)
c.448_450del (p.Trp150del)
c.*288_*290del (n.*288_*290del)
c.64-1014_64-1012del (n.64-1014_64-1012del)
c.319-1014_319-1012del (n.319-1014_319-1012del)
c.449_451del (p.Val150del)
c.794_796del (p.Val265del)
c.*200_*202del (n.*200_*202del)
n.824_826del
11g.72108618T>ACA381723543ANAPC15,LRRC51,LRTOMT,TOMTc.470T>A (p.Val157Glu)
c.451T>A (p.Trp151Arg)
c.569T>A (p.Val190Glu)
c.448T>A (p.Trp150Arg)
c.*288T>A (n.*288T>A)
c.64-1013A>T (n.64-1013A>T)
c.319-1013A>T (n.319-1013A>T)
c.449T>A (p.Val150Glu)
c.794T>A (p.Val265Glu)
c.*201A>T (n.*201A>T)
n.825A>T
11g.72108618T>CCA381723549ANAPC15,LRRC51,LRTOMT,TOMTc.470T>C (p.Val157Ala)
c.451T>C (p.Trp151Arg)
c.569T>C (p.Val190Ala)
c.448T>C (p.Trp150Arg)
c.*288T>C (n.*288T>C)
c.64-1013A>G (n.64-1013A>G)
c.319-1013A>G (n.319-1013A>G)
c.449T>C (p.Val150Ala)
c.794T>C (p.Val265Ala)
c.*201A>G (n.*201A>G)
n.825A>G
dbSNP gnomAD v2 gnomAD v4
11g.72108618T>GCA381723545ANAPC15,LRRC51,LRTOMT,TOMTc.470T>G (p.Val157Gly)
c.451T>G (p.Trp151Gly)
c.569T>G (p.Val190Gly)
c.448T>G (p.Trp150Gly)
c.*288T>G (n.*288T>G)
c.64-1013A>C (n.64-1013A>C)
c.319-1013A>C (n.319-1013A>C)
c.449T>G (p.Val150Gly)
c.794T>G (p.Val265Gly)
c.*201A>C (n.*201A>C)
n.825A>C
11g.72108618T=CA1981841023ANAPC15,LRRC51,LRTOMT,TOMTc.470T= (p.Val157=)
c.451T= (p.Trp151=)
c.569T= (p.Val190=)
c.448T= (p.Trp150=)
c.*288T= (n.*288T=)
c.64-1013A= (n.64-1013A=)
c.319-1013A= (n.319-1013A=)
c.449T= (p.Val150=)
c.794T= (p.Val265=)
c.*201A= (n.*201A=)
n.825A=
11g.72108619G>ACA381723554ANAPC15,LRRC51,LRTOMT,TOMTc.471G>A (p.Val157=)
c.452G>A (p.Trp151Ter)
c.570G>A (p.Val190=)
c.449G>A (p.Trp150Ter)
c.*289G>A (n.*289G>A)
c.64-1014C>T (n.64-1014C>T)
c.319-1014C>T (n.319-1014C>T)
c.450G>A (p.Val150=)
c.795G>A (p.Val265=)
c.*200C>T (n.*200C>T)
n.824C>T
gnomAD v4
11g.72108619G>CCA381723556ANAPC15,LRRC51,LRTOMT,TOMTc.471G>C (p.Val157=)
c.452G>C (p.Trp151Ser)
c.570G>C (p.Val190=)
c.449G>C (p.Trp150Ser)
c.*289G>C (n.*289G>C)
c.64-1014C>G (n.64-1014C>G)
c.319-1014C>G (n.319-1014C>G)
c.450G>C (p.Val150=)
c.795G>C (p.Val265=)
c.*200C>G (n.*200C>G)
n.824C>G
11g.72108619G>TCA381723560ANAPC15,LRRC51,LRTOMT,TOMTc.471G>T (p.Val157=)
c.452G>T (p.Trp151Leu)
c.570G>T (p.Val190=)
c.449G>T (p.Trp150Leu)
c.*289G>T (n.*289G>T)
c.64-1014C>A (n.64-1014C>A)
c.319-1014C>A (n.319-1014C>A)
c.450G>T (p.Val150=)
c.795G>T (p.Val265=)
c.*200C>A (n.*200C>A)
n.824C>A
gnomAD v4
11g.72108620G>ACA381723564ANAPC15,LRRC51,LRTOMT,TOMTc.472G>A (p.Gly158Ser)
c.453G>A (p.Trp151Ter)
c.571G>A (p.Gly191Ser)
c.450G>A (p.Trp150Ter)
c.*290G>A (n.*290G>A)
c.64-1015C>T (n.64-1015C>T)
c.319-1015C>T (n.319-1015C>T)
c.451G>A (p.Gly151Ser)
c.796G>A (p.Gly266Ser)
c.*199C>T (n.*199C>T)
n.823C>T
11g.72108620G>CCA381723567ANAPC15,LRRC51,LRTOMT,TOMTc.472G>C (p.Gly158Arg)
c.453G>C (p.Trp151Cys)
c.571G>C (p.Gly191Arg)
c.450G>C (p.Trp150Cys)
c.*290G>C (n.*290G>C)
c.64-1015C>G (n.64-1015C>G)
c.319-1015C>G (n.319-1015C>G)
c.451G>C (p.Gly151Arg)
c.796G>C (p.Gly266Arg)
c.*199C>G (n.*199C>G)
n.823C>G
11g.72108620G>TCA381723570ANAPC15,LRRC51,LRTOMT,TOMTc.472G>T (p.Gly158Cys)
c.453G>T (p.Trp151Cys)
c.571G>T (p.Gly191Cys)
c.450G>T (p.Trp150Cys)
c.*290G>T (n.*290G>T)
c.64-1015C>A (n.64-1015C>A)
c.319-1015C>A (n.319-1015C>A)
c.451G>T (p.Gly151Cys)
c.796G>T (p.Gly266Cys)
c.*199C>A (n.*199C>A)
n.823C>A
gnomAD v4
11g.72108621G>ACA381723576ANAPC15,LRRC51,LRTOMT,TOMTc.473G>A (p.Gly158Asp)
c.454G>A (p.Ala152Thr)
c.572G>A (p.Gly191Asp)
c.451G>A (p.Ala151Thr)
c.*291G>A (n.*291G>A)
c.64-1016C>T (n.64-1016C>T)
c.319-1016C>T (n.319-1016C>T)
c.452G>A (p.Gly151Asp)
c.797G>A (p.Gly266Asp)
c.*198C>T (n.*198C>T)
n.822C>T
gnomAD v4
11g.72108621G>CCA381723578ANAPC15,LRRC51,LRTOMT,TOMTc.473G>C (p.Gly158Ala)
c.454G>C (p.Ala152Pro)
c.572G>C (p.Gly191Ala)
c.451G>C (p.Ala151Pro)
c.*291G>C (n.*291G>C)
c.64-1016C>G (n.64-1016C>G)
c.319-1016C>G (n.319-1016C>G)
c.452G>C (p.Gly151Ala)
c.797G>C (p.Gly266Ala)
c.*198C>G (n.*198C>G)
n.822C>G
11g.72108621G>TCA381723585ANAPC15,LRRC51,LRTOMT,TOMTc.473G>T (p.Gly158Val)
c.454G>T (p.Ala152Ser)
c.572G>T (p.Gly191Val)
c.451G>T (p.Ala151Ser)
c.*291G>T (n.*291G>T)
c.64-1016C>A (n.64-1016C>A)
c.319-1016C>A (n.319-1016C>A)
c.452G>T (p.Gly151Val)
c.797G>T (p.Gly266Val)
c.*198C>A (n.*198C>A)
n.822C>A
gnomAD v4
11g.72108622C>ACA381723594ANAPC15,LRRC51,LRTOMT,TOMTc.474C>A (p.Gly158=)
c.455C>A (p.Ala152Glu)
c.573C>A (p.Gly191=)
c.452C>A (p.Ala151Glu)
c.*292C>A (n.*292C>A)
c.64-1017G>T (n.64-1017G>T)
c.319-1017G>T (n.319-1017G>T)
c.453C>A (p.Gly151=)
c.798C>A (p.Gly266=)
c.*197G>T (n.*197G>T)
n.821G>T
gnomAD v4
11g.72108622C>GCA381723602ANAPC15,LRRC51,LRTOMT,TOMTc.474C>G (p.Gly158=)
c.455C>G (p.Ala152Gly)
c.573C>G (p.Gly191=)
c.452C>G (p.Ala151Gly)
c.*292C>G (n.*292C>G)
c.64-1017G>C (n.64-1017G>C)
c.319-1017G>C (n.319-1017G>C)
c.453C>G (p.Gly151=)
c.798C>G (p.Gly266=)
c.*197G>C (n.*197G>C)
n.821G>C
11g.72108622C>TCA381723608ANAPC15,LRRC51,LRTOMT,TOMTc.474C>T (p.Gly158=)
c.455C>T (p.Ala152Val)
c.573C>T (p.Gly191=)
c.452C>T (p.Ala151Val)
c.*292C>T (n.*292C>T)
c.64-1017G>A (n.64-1017G>A)
c.319-1017G>A (n.319-1017G>A)
c.453C>T (p.Gly151=)
c.798C>T (p.Gly266=)
c.*197G>A (n.*197G>A)
n.821G>A
gnomAD v4
11g.72108623A>CCA381723619ANAPC15,LRRC51,LRTOMT,TOMTc.475A>C (p.Ser159Arg)
c.456A>C (p.Ala152=)
c.574A>C (p.Ser192Arg)
c.453A>C (p.Ala151=)
c.*293A>C (n.*293A>C)
c.64-1018T>G (n.64-1018T>G)
c.319-1018T>G (n.319-1018T>G)
c.454A>C (p.Ser152Arg)
c.799A>C (p.Ser267Arg)
c.*196T>G (n.*196T>G)
n.820T>G
11g.72108623A>GCA381723621ANAPC15,LRRC51,LRTOMT,TOMTc.475A>G (p.Ser159Gly)
c.456A>G (p.Ala152=)
c.574A>G (p.Ser192Gly)
c.453A>G (p.Ala151=)
c.*293A>G (n.*293A>G)
c.64-1018T>C (n.64-1018T>C)
c.319-1018T>C (n.319-1018T>C)
c.454A>G (p.Ser152Gly)
c.799A>G (p.Ser267Gly)
c.*196T>C (n.*196T>C)
n.820T>C
11g.72108623A>TCA381723620ANAPC15,LRRC51,LRTOMT,TOMTc.475A>T (p.Ser159Cys)
c.456A>T (p.Ala152=)
c.574A>T (p.Ser192Cys)
c.453A>T (p.Ala151=)
c.*293A>T (n.*293A>T)
c.64-1018T>A (n.64-1018T>A)
c.319-1018T>A (n.319-1018T>A)
c.454A>T (p.Ser152Cys)
c.799A>T (p.Ser267Cys)
c.*196T>A (n.*196T>A)
n.820T>A
11g.72108624G>ACA381723626ANAPC15,LRRC51,LRTOMT,TOMTc.476G>A (p.Ser159Asn)
c.457G>A (p.Ala153Thr)
c.575G>A (p.Ser192Asn)
c.454G>A (p.Ala152Thr)
c.*294G>A (n.*294G>A)
c.64-1019C>T (n.64-1019C>T)
c.319-1019C>T (n.319-1019C>T)
c.455G>A (p.Ser152Asn)
c.800G>A (p.Ser267Asn)
c.*195C>T (n.*195C>T)
n.819C>T
gnomAD v4
11g.72108624G>CCA381723650ANAPC15,LRRC51,LRTOMT,TOMTc.476G>C (p.Ser159Thr)
c.457G>C (p.Ala153Pro)
c.575G>C (p.Ser192Thr)
c.454G>C (p.Ala152Pro)
c.*294G>C (n.*294G>C)
c.64-1019C>G (n.64-1019C>G)
c.319-1019C>G (n.319-1019C>G)
c.455G>C (p.Ser152Thr)
c.800G>C (p.Ser267Thr)
c.*195C>G (n.*195C>G)
n.819C>G
11g.72108624G>TCA381723654ANAPC15,LRRC51,LRTOMT,TOMTc.476G>T (p.Ser159Ile)
c.457G>T (p.Ala153Ser)
c.575G>T (p.Ser192Ile)
c.454G>T (p.Ala152Ser)
c.*294G>T (n.*294G>T)
c.64-1019C>A (n.64-1019C>A)
c.319-1019C>A (n.319-1019C>A)
c.455G>T (p.Ser152Ile)
c.800G>T (p.Ser267Ile)
c.*195C>A (n.*195C>A)
n.819C>A
gnomAD v4
11g.72108625C>ACA381723661ANAPC15,LRRC51,LRTOMT,TOMTc.477C>A (p.Ser159Arg)
c.458C>A (p.Ala153Asp)
c.576C>A (p.Ser192Arg)
c.455C>A (p.Ala152Asp)
c.*295C>A (n.*295C>A)
c.64-1020G>T (n.64-1020G>T)
c.319-1020G>T (n.319-1020G>T)
c.456C>A (p.Ser152Arg)
c.801C>A (p.Ser267Arg)
c.*194G>T (n.*194G>T)
n.818G>T
11g.72108625C=CA1981841024ANAPC15,LRRC51,LRTOMT,TOMTc.477C= (p.Ser159=)
c.458C= (p.Ala153=)
c.576C= (p.Ser192=)
c.455C= (p.Ala152=)
c.*295C= (n.*295C=)
c.64-1020G= (n.64-1020G=)
c.319-1020G= (n.319-1020G=)
c.456C= (p.Ser152=)
c.801C= (p.Ser267=)
c.*194G= (n.*194G=)
n.818G=
11g.72108625C>GCA381723679ANAPC15,LRRC51,LRTOMT,TOMTc.477C>G (p.Ser159Arg)
c.458C>G (p.Ala153Gly)
c.576C>G (p.Ser192Arg)
c.455C>G (p.Ala152Gly)
c.*295C>G (n.*295C>G)
c.64-1020G>C (n.64-1020G>C)
c.319-1020G>C (n.319-1020G>C)
c.456C>G (p.Ser152Arg)
c.801C>G (p.Ser267Arg)
c.*194G>C (n.*194G>C)
n.818G>C
11g.72108625C>TCA224375550ANAPC15,LRRC51,LRTOMT,TOMTc.477C>T (p.Ser159=)
c.458C>T (p.Ala153Val)
c.576C>T (p.Ser192=)
c.455C>T (p.Ala152Val)
c.*295C>T (n.*295C>T)
c.64-1020G>A (n.64-1020G>A)
c.319-1020G>A (n.319-1020G>A)
c.456C>T (p.Ser152=)
c.801C>T (p.Ser267=)
c.*194G>A (n.*194G>A)
n.818G>A
dbSNP gnomAD v4
11g.72108626T>ACA381723696ANAPC15,LRRC51,LRTOMT,TOMTc.478T>A (p.Ser160Thr)
c.459T>A (p.Ala153=)
c.577T>A (p.Ser193Thr)
c.456T>A (p.Ala152=)
c.*296T>A (n.*296T>A)
c.64-1021A>T (n.64-1021A>T)
c.319-1021A>T (n.319-1021A>T)
c.457T>A (p.Ser153Thr)
c.802T>A (p.Ser268Thr)
c.*193A>T (n.*193A>T)
n.817A>T
11g.72108626T>CCA381723700ANAPC15,LRRC51,LRTOMT,TOMTc.478T>C (p.Ser160Pro)
c.459T>C (p.Ala153=)
c.577T>C (p.Ser193Pro)
c.456T>C (p.Ala152=)
c.*296T>C (n.*296T>C)
c.64-1021A>G (n.64-1021A>G)
c.319-1021A>G (n.319-1021A>G)
c.457T>C (p.Ser153Pro)
c.802T>C (p.Ser268Pro)
c.*193A>G (n.*193A>G)
n.817A>G
gnomAD v4
11g.72108626T>GCA381723705ANAPC15,LRRC51,LRTOMT,TOMTc.478T>G (p.Ser160Ala)
c.459T>G (p.Ala153=)
c.577T>G (p.Ser193Ala)
c.456T>G (p.Ala152=)
c.*296T>G (n.*296T>G)
c.64-1021A>C (n.64-1021A>C)
c.319-1021A>C (n.319-1021A>C)
c.457T>G (p.Ser153Ala)
c.802T>G (p.Ser268Ala)
c.*193A>C (n.*193A>C)
n.817A>C
11g.72108627C>ACA381723719ANAPC15,LRRC51,LRTOMT,TOMTc.479C>A (p.Ser160Ter)
c.460C>A (p.Gln154Lys)
c.578C>A (p.Ser193Ter)
c.457C>A (p.Gln153Lys)
c.*297C>A (n.*297C>A)
c.64-1022G>T (n.64-1022G>T)
c.319-1022G>T (n.319-1022G>T)
c.458C>A (p.Ser153Ter)
c.803C>A (p.Ser268Ter)
c.*192G>T (n.*192G>T)
n.816G>T
11g.72108627C>GCA381723728ANAPC15,LRRC51,LRTOMT,TOMTc.479C>G (p.Ser160Ter)
c.460C>G (p.Gln154Glu)
c.578C>G (p.Ser193Ter)
c.457C>G (p.Gln153Glu)
c.*297C>G (n.*297C>G)
c.64-1022G>C (n.64-1022G>C)
c.319-1022G>C (n.319-1022G>C)
c.458C>G (p.Ser153Ter)
c.803C>G (p.Ser268Ter)
c.*192G>C (n.*192G>C)
n.816G>C
11g.72108627C>TCA381723715ANAPC15,LRRC51,LRTOMT,TOMTc.479C>T (p.Ser160Leu)
c.460C>T (p.Gln154Ter)
c.578C>T (p.Ser193Leu)
c.457C>T (p.Gln153Ter)
c.*297C>T (n.*297C>T)
c.64-1022G>A (n.64-1022G>A)
c.319-1022G>A (n.319-1022G>A)
c.458C>T (p.Ser153Leu)
c.803C>T (p.Ser268Leu)
c.*192G>A (n.*192G>A)
n.816G>A
11g.72108628A>CCA381723750ANAPC15,LRRC51,LRTOMT,TOMTc.480A>C (p.Ser160=)
c.461A>C (p.Gln154Pro)
c.579A>C (p.Ser193=)
c.458A>C (p.Gln153Pro)
c.*298A>C (n.*298A>C)
c.64-1023T>G (n.64-1023T>G)
c.319-1023T>G (n.319-1023T>G)
c.459A>C (p.Ser153=)
c.804A>C (p.Ser268=)
c.*191T>G (n.*191T>G)
n.815T>G
gnomAD v4
11g.72108628A>GCA381723755ANAPC15,LRRC51,LRTOMT,TOMTc.480A>G (p.Ser160=)
c.461A>G (p.Gln154Arg)
c.579A>G (p.Ser193=)
c.458A>G (p.Gln153Arg)
c.*298A>G (n.*298A>G)
c.64-1023T>C (n.64-1023T>C)
c.319-1023T>C (n.319-1023T>C)
c.459A>G (p.Ser153=)
c.804A>G (p.Ser268=)
c.*191T>C (n.*191T>C)
n.815T>C
11g.72108628A>TCA381723757ANAPC15,LRRC51,LRTOMT,TOMTc.480A>T (p.Ser160=)
c.461A>T (p.Gln154Leu)
c.579A>T (p.Ser193=)
c.458A>T (p.Gln153Leu)
c.*298A>T (n.*298A>T)
c.64-1023T>A (n.64-1023T>A)
c.319-1023T>A (n.319-1023T>A)
c.459A>T (p.Ser153=)
c.804A>T (p.Ser268=)
c.*191T>A (n.*191T>A)
n.815T>A
11g.72108629G>ACA381723771ANAPC15,LRRC51,LRTOMT,TOMTc.481G>A (p.Glu161Lys)
c.462G>A (p.Gln154=)
c.580G>A (p.Glu194Lys)
c.459G>A (p.Gln153=)
c.*299G>A (n.*299G>A)
c.64-1024C>T (n.64-1024C>T)
c.319-1024C>T (n.319-1024C>T)
c.460G>A (p.Glu154Lys)
c.805G>A (p.Glu269Lys)
c.*190C>T (n.*190C>T)
n.814C>T
gnomAD v4
11g.72108629G>CCA381723778ANAPC15,LRRC51,LRTOMT,TOMTc.481G>C (p.Glu161Gln)
c.462G>C (p.Gln154His)
c.580G>C (p.Glu194Gln)
c.459G>C (p.Gln153His)
c.*299G>C (n.*299G>C)
c.64-1024C>G (n.64-1024C>G)
c.319-1024C>G (n.319-1024C>G)
c.460G>C (p.Glu154Gln)
c.805G>C (p.Glu269Gln)
c.*190C>G (n.*190C>G)
n.814C>G
11g.72108629G>TCA381723783ANAPC15,LRRC51,LRTOMT,TOMTc.481G>T (p.Glu161Ter)
c.462G>T (p.Gln154His)
c.580G>T (p.Glu194Ter)
c.459G>T (p.Gln153His)
c.*299G>T (n.*299G>T)
c.64-1024C>A (n.64-1024C>A)
c.319-1024C>A (n.319-1024C>A)
c.460G>T (p.Glu154Ter)
c.805G>T (p.Glu269Ter)
c.*190C>A (n.*190C>A)
n.814C>A
gnomAD v4
11g.72108630A>CCA381723792ANAPC15,LRRC51,LRTOMT,TOMTc.482A>C (p.Glu161Ala)
c.463A>C (p.Arg155=)
c.581A>C (p.Glu194Ala)
c.460A>C (p.Arg154=)
c.*300A>C (n.*300A>C)
c.64-1025T>G (n.64-1025T>G)
c.319-1025T>G (n.319-1025T>G)
c.461A>C (p.Glu154Ala)
c.806A>C (p.Glu269Ala)
c.*189T>G (n.*189T>G)
n.813T>G
11g.72108630A>GCA381723794ANAPC15,LRRC51,LRTOMT,TOMTc.482A>G (p.Glu161Gly)
c.463A>G (p.Arg155Gly)
c.581A>G (p.Glu194Gly)
c.460A>G (p.Arg154Gly)
c.*300A>G (n.*300A>G)
c.64-1025T>C (n.64-1025T>C)
c.319-1025T>C (n.319-1025T>C)
c.461A>G (p.Glu154Gly)
c.806A>G (p.Glu269Gly)
c.*189T>C (n.*189T>C)
n.813T>C
11g.72108630A>TCA381723795ANAPC15,LRRC51,LRTOMT,TOMTc.482A>T (p.Glu161Val)
c.463A>T (p.Arg155Trp)
c.581A>T (p.Glu194Val)
c.460A>T (p.Arg154Trp)
c.*300A>T (n.*300A>T)
c.64-1025T>A (n.64-1025T>A)
c.319-1025T>A (n.319-1025T>A)
c.461A>T (p.Glu154Val)
c.806A>T (p.Glu269Val)
c.*189T>A (n.*189T>A)
n.813T>A
11g.72108631G>ACA381723799ANAPC15,LRRC51,LRTOMT,TOMTc.483G>A (p.Glu161=)
c.464G>A (p.Arg155Lys)
c.582G>A (p.Glu194=)
c.461G>A (p.Arg154Lys)
c.*301G>A (n.*301G>A)
c.64-1026C>T (n.64-1026C>T)
c.319-1026C>T (n.319-1026C>T)
c.462G>A (p.Glu154=)
c.807G>A (p.Glu269=)
c.*188C>T (n.*188C>T)
n.812C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72108631G>CCA381723807ANAPC15,LRRC51,LRTOMT,TOMTc.483G>C (p.Glu161Asp)
c.464G>C (p.Arg155Thr)
c.582G>C (p.Glu194Asp)
c.461G>C (p.Arg154Thr)
c.*301G>C (n.*301G>C)
c.64-1026C>G (n.64-1026C>G)
c.319-1026C>G (n.319-1026C>G)
c.462G>C (p.Glu154Asp)
c.807G>C (p.Glu269Asp)
c.*188C>G (n.*188C>G)
n.812C>G
11g.72108631G=CA1981841025ANAPC15,LRRC51,LRTOMT,TOMTc.483G= (p.Glu161=)
c.464G= (p.Arg155=)
c.582G= (p.Glu194=)
c.461G= (p.Arg154=)
c.*301G= (n.*301G=)
c.64-1026C= (n.64-1026C=)
c.319-1026C= (n.319-1026C=)
c.462G= (p.Glu154=)
c.807G= (p.Glu269=)
c.*188C= (n.*188C=)
n.812C=
11g.72108631G>TCA381723811ANAPC15,LRRC51,LRTOMT,TOMTc.483G>T (p.Glu161Asp)
c.464G>T (p.Arg155Met)
c.582G>T (p.Glu194Asp)
c.461G>T (p.Arg154Met)
c.*301G>T (n.*301G>T)
c.64-1026C>A (n.64-1026C>A)
c.319-1026C>A (n.319-1026C>A)
c.462G>T (p.Glu154Asp)
c.807G>T (p.Glu269Asp)
c.*188C>A (n.*188C>A)
n.812C>A
gnomAD v4
11g.72108632G>ACA381723820ANAPC15,LRRC51,LRTOMT,TOMTc.484G>A (p.Asp162Asn)
c.465G>A (p.Arg155=)
c.583G>A (p.Asp195Asn)
c.462G>A (p.Arg154=)
c.*302G>A (n.*302G>A)
c.64-1027C>T (n.64-1027C>T)
c.319-1027C>T (n.319-1027C>T)
c.463G>A (p.Asp155Asn)
c.808G>A (p.Asp270Asn)
c.*187C>T (n.*187C>T)
n.811C>T
dbSNP gnomAD v3 gnomAD v4
11g.72108632G>CCA381723822ANAPC15,LRRC51,LRTOMT,TOMTc.484G>C (p.Asp162His)
c.465G>C (p.Arg155Ser)
c.583G>C (p.Asp195His)
c.462G>C (p.Arg154Ser)
c.*302G>C (n.*302G>C)
c.64-1027C>G (n.64-1027C>G)
c.319-1027C>G (n.319-1027C>G)
c.463G>C (p.Asp155His)
c.808G>C (p.Asp270His)
c.*187C>G (n.*187C>G)
n.811C>G
11g.72108632G=CA1981841026ANAPC15,LRRC51,LRTOMT,TOMTc.484G= (p.Asp162=)
c.465G= (p.Arg155=)
c.583G= (p.Asp195=)
c.462G= (p.Arg154=)
c.*302G= (n.*302G=)
c.64-1027C= (n.64-1027C=)
c.319-1027C= (n.319-1027C=)
c.463G= (p.Asp155=)
c.808G= (p.Asp270=)
c.*187C= (n.*187C=)
n.811C=
11g.72108632G>TCA381723818ANAPC15,LRRC51,LRTOMT,TOMTc.484G>T (p.Asp162Tyr)
c.465G>T (p.Arg155Ser)
c.583G>T (p.Asp195Tyr)
c.462G>T (p.Arg154Ser)
c.*302G>T (n.*302G>T)
c.64-1027C>A (n.64-1027C>A)
c.319-1027C>A (n.319-1027C>A)
c.463G>T (p.Asp155Tyr)
c.808G>T (p.Asp270Tyr)
c.*187C>A (n.*187C>A)
n.811C>A
gnomAD v4
11g.72108633A>CCA381723828ANAPC15,LRRC51,LRTOMT,TOMTc.485A>C (p.Asp162Ala)
c.466A>C (p.Thr156Pro)
c.584A>C (p.Asp195Ala)
c.463A>C (p.Thr155Pro)
c.*303A>C (n.*303A>C)
c.64-1028T>G (n.64-1028T>G)
c.319-1028T>G (n.319-1028T>G)
c.464A>C (p.Asp155Ala)
c.809A>C (p.Asp270Ala)
c.*186T>G (n.*186T>G)
n.810T>G
11g.72108633A>GCA381723836ANAPC15,LRRC51,LRTOMT,TOMTc.485A>G (p.Asp162Gly)
c.466A>G (p.Thr156Ala)
c.584A>G (p.Asp195Gly)
c.463A>G (p.Thr155Ala)
c.*303A>G (n.*303A>G)
c.64-1028T>C (n.64-1028T>C)
c.319-1028T>C (n.319-1028T>C)
c.464A>G (p.Asp155Gly)
c.809A>G (p.Asp270Gly)
c.*186T>C (n.*186T>C)
n.810T>C
gnomAD v4 COSMIC
11g.72108633A>TCA381723839ANAPC15,LRRC51,LRTOMT,TOMTc.485A>T (p.Asp162Val)
c.466A>T (p.Thr156Ser)
c.584A>T (p.Asp195Val)
c.463A>T (p.Thr155Ser)
c.*303A>T (n.*303A>T)
c.64-1028T>A (n.64-1028T>A)
c.319-1028T>A (n.319-1028T>A)
c.464A>T (p.Asp155Val)
c.809A>T (p.Asp270Val)
c.*186T>A (n.*186T>A)
n.810T>A
11g.72108634C>ACA381723843ANAPC15,LRRC51,LRTOMT,TOMTc.486C>A (p.Asp162Glu)
c.467C>A (p.Thr156Lys)
c.585C>A (p.Asp195Glu)
c.464C>A (p.Thr155Lys)
c.*304C>A (n.*304C>A)
c.64-1029G>T (n.64-1029G>T)
c.319-1029G>T (n.319-1029G>T)
c.465C>A (p.Asp155Glu)
c.810C>A (p.Asp270Glu)
c.*185G>T (n.*185G>T)
n.809G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72108634C=CA1981841027ANAPC15,LRRC51,LRTOMT,TOMTc.486C= (p.Asp162=)
c.467C= (p.Thr156=)
c.585C= (p.Asp195=)
c.464C= (p.Thr155=)
c.*304C= (n.*304C=)
c.64-1029G= (n.64-1029G=)
c.319-1029G= (n.319-1029G=)
c.465C= (p.Asp155=)
c.810C= (p.Asp270=)
c.*185G= (n.*185G=)
n.809G=
11g.72108634C>GCA381723850ANAPC15,LRRC51,LRTOMT,TOMTc.486C>G (p.Asp162Glu)
c.467C>G (p.Thr156Arg)
c.585C>G (p.Asp195Glu)
c.464C>G (p.Thr155Arg)
c.*304C>G (n.*304C>G)
c.64-1029G>C (n.64-1029G>C)
c.319-1029G>C (n.319-1029G>C)
c.465C>G (p.Asp155Glu)
c.810C>G (p.Asp270Glu)
c.*185G>C (n.*185G>C)
n.809G>C
11g.72108634C>TCA6168631ANAPC15,LRRC51,LRTOMT,TOMTc.486C>T (p.Asp162=)
c.467C>T (p.Thr156Met)
c.585C>T (p.Asp195=)
c.464C>T (p.Thr155Met)
c.*304C>T (n.*304C>T)
c.64-1029G>A (n.64-1029G>A)
c.319-1029G>A (n.319-1029G>A)
c.465C>T (p.Asp155=)
c.810C>T (p.Asp270=)
c.*185G>A (n.*185G>A)
n.809G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72108635G>ACA381723860ANAPC15,LRRC51,LRTOMT,TOMTc.487G>A (p.Val163Met)
c.468G>A (p.Thr156=)
c.586G>A (p.Val196Met)
c.465G>A (p.Thr155=)
c.*305G>A (n.*305G>A)
c.64-1030C>T (n.64-1030C>T)
c.319-1030C>T (n.319-1030C>T)
c.466G>A (p.Val156Met)
c.811G>A (p.Val271Met)
c.*184C>T (n.*184C>T)
n.808C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72108635G>CCA381723864ANAPC15,LRRC51,LRTOMT,TOMTc.487G>C (p.Val163Leu)
c.468G>C (p.Thr156=)
c.586G>C (p.Val196Leu)
c.465G>C (p.Thr155=)
c.*305G>C (n.*305G>C)
c.64-1030C>G (n.64-1030C>G)
c.319-1030C>G (n.319-1030C>G)
c.466G>C (p.Val156Leu)
c.811G>C (p.Val271Leu)
c.*184C>G (n.*184C>G)
n.808C>G
gnomAD v4
11g.72108635G=CA1981841028ANAPC15,LRRC51,LRTOMT,TOMTc.487G= (p.Val163=)
c.468G= (p.Thr156=)
c.586G= (p.Val196=)
c.465G= (p.Thr155=)
c.*305G= (n.*305G=)
c.64-1030C= (n.64-1030C=)
c.319-1030C= (n.319-1030C=)
c.466G= (p.Val156=)
c.811G= (p.Val271=)
c.*184C= (n.*184C=)
n.808C=
11g.72108635G>TCA381723862ANAPC15,LRRC51,LRTOMT,TOMTc.487G>T (p.Val163Leu)
c.468G>T (p.Thr156=)
c.586G>T (p.Val196Leu)
c.465G>T (p.Thr155=)
c.*305G>T (n.*305G>T)
c.64-1030C>A (n.64-1030C>A)
c.319-1030C>A (n.319-1030C>A)
c.466G>T (p.Val156Leu)
c.811G>T (p.Val271Leu)
c.*184C>A (n.*184C>A)
n.808C>A
gnomAD v4
11g.72108636T>ACA381723869ANAPC15,LRRC51,LRTOMT,TOMTc.488T>A (p.Val163Glu)
c.469T>A (p.Ter157Arg)
c.587T>A (p.Val196Glu)
c.466T>A (p.Ter156Arg)
c.*306T>A (n.*306T>A)
c.64-1031A>T (n.64-1031A>T)
c.319-1031A>T (n.319-1031A>T)
c.467T>A (p.Val156Glu)
c.812T>A (p.Val271Glu)
c.*183A>T (n.*183A>T)
n.807A>T
11g.72108636T>CCA381723872ANAPC15,LRRC51,LRTOMT,TOMTc.488T>C (p.Val163Ala)
c.469T>C (p.Ter157Arg)
c.587T>C (p.Val196Ala)
c.466T>C (p.Ter156Arg)
c.*306T>C (n.*306T>C)
c.64-1031A>G (n.64-1031A>G)
c.319-1031A>G (n.319-1031A>G)
c.467T>C (p.Val156Ala)
c.812T>C (p.Val271Ala)
c.*183A>G (n.*183A>G)
n.807A>G
gnomAD v4
11g.72108636T>GCA381723874ANAPC15,LRRC51,LRTOMT,TOMTc.488T>G (p.Val163Gly)
c.469T>G (p.Ter157Gly)
c.587T>G (p.Val196Gly)
c.466T>G (p.Ter156Gly)
c.*306T>G (n.*306T>G)
c.64-1031A>C (n.64-1031A>C)
c.319-1031A>C (n.319-1031A>C)
c.467T>G (p.Val156Gly)
c.812T>G (p.Val271Gly)
c.*183A>C (n.*183A>C)
n.807A>C
11g.72108637G>ACA475592477ANAPC15,LRRC51,LRTOMT,TOMTc.489G>A (p.Val163=)
c.470G>A (p.Ter157=)
c.588G>A (p.Val196=)
c.467G>A (p.Ter156=)
c.*307G>A (n.*307G>A)
c.64-1032C>T (n.64-1032C>T)
c.319-1032C>T (n.319-1032C>T)
c.468G>A (p.Val156=)
c.813G>A (p.Val271=)
c.*182C>T (n.*182C>T)
n.806C>T
11g.72108637G>CCA381723879ANAPC15,LRRC51,LRTOMT,TOMTc.489G>C (p.Val163=)
c.470G>C (p.Ter157Ser)
c.588G>C (p.Val196=)
c.467G>C (p.Ter156Ser)
c.*307G>C (n.*307G>C)
c.64-1032C>G (n.64-1032C>G)
c.319-1032C>G (n.319-1032C>G)
c.468G>C (p.Val156=)
c.813G>C (p.Val271=)
c.*182C>G (n.*182C>G)
n.806C>G
11g.72108637G>TCA381723884ANAPC15,LRRC51,LRTOMT,TOMTc.489G>T (p.Val163=)
c.470G>T (p.Ter157Leu)
c.588G>T (p.Val196=)
c.467G>T (p.Ter156Leu)
c.*307G>T (n.*307G>T)
c.64-1032C>A (n.64-1032C>A)
c.319-1032C>A (n.319-1032C>A)
c.468G>T (p.Val156=)
c.813G>T (p.Val271=)
c.*182C>A (n.*182C>A)
n.806C>A
11g.72108638A>CCA381723886ANAPC15,LRRC51,LRTOMT,TOMTc.490A>C (p.Ile164Leu)
c.471A>C (p.Ter157Cys)
c.589A>C (p.Ile197Leu)
c.468A>C (p.Ter156Cys)
c.*308A>C (n.*308A>C)
c.64-1033T>G (n.64-1033T>G)
c.319-1033T>G (n.319-1033T>G)
c.469A>C (p.Ile157Leu)
c.814A>C (p.Ile272Leu)
c.*181T>G (n.*181T>G)
n.805T>G
11g.72108638A>GCA381723891ANAPC15,LRRC51,LRTOMT,TOMTc.490A>G (p.Ile164Val)
c.471A>G (p.Ter157Trp)
c.589A>G (p.Ile197Val)
c.468A>G (p.Ter156Trp)
c.*308A>G (n.*308A>G)
c.64-1033T>C (n.64-1033T>C)
c.319-1033T>C (n.319-1033T>C)
c.469A>G (p.Ile157Val)
c.814A>G (p.Ile272Val)
c.*181T>C (n.*181T>C)
n.805T>C
11g.72108638A>TCA381723885ANAPC15,LRRC51,LRTOMT,TOMTc.490A>T (p.Ile164Phe)
c.471A>T (p.Ter157Cys)
c.589A>T (p.Ile197Phe)
c.468A>T (p.Ter156Cys)
c.*308A>T (n.*308A>T)
c.64-1033T>A (n.64-1033T>A)
c.319-1033T>A (n.319-1033T>A)
c.469A>T (p.Ile157Phe)
c.814A>T (p.Ile272Phe)
c.*181T>A (n.*181T>A)
n.805T>A
11g.72108639T>ACA381723892ANAPC15,LRRC51,LRTOMT,TOMTc.491T>A (p.Ile164Asn)
c.*1T>A (n.*1T>A)
c.590T>A (p.Ile197Asn)
c.*309T>A (n.*309T>A)
c.64-1034A>T (n.64-1034A>T)
c.319-1034A>T (n.319-1034A>T)
c.470T>A (p.Ile157Asn)
c.815T>A (p.Ile272Asn)
c.*180A>T (n.*180A>T)
n.804A>T
gnomAD v4
11g.72108639T>CCA224375559ANAPC15,LRRC51,LRTOMT,TOMTc.491T>C (p.Ile164Thr)
c.*1T>C (n.*1T>C)
c.590T>C (p.Ile197Thr)
c.*309T>C (n.*309T>C)
c.64-1034A>G (n.64-1034A>G)
c.319-1034A>G (n.319-1034A>G)
c.470T>C (p.Ile157Thr)
c.815T>C (p.Ile272Thr)
c.*180A>G (n.*180A>G)
n.804A>G
dbSNP gnomAD v3 gnomAD v4
11g.72108639T>GCA381723894ANAPC15,LRRC51,LRTOMT,TOMTc.491T>G (p.Ile164Ser)
c.*1T>G (n.*1T>G)
c.590T>G (p.Ile197Ser)
c.*309T>G (n.*309T>G)
c.64-1034A>C (n.64-1034A>C)
c.319-1034A>C (n.319-1034A>C)
c.470T>G (p.Ile157Ser)
c.815T>G (p.Ile272Ser)
c.*180A>C (n.*180A>C)
n.804A>C
11g.72108639T=CA1981841029ANAPC15,LRRC51,LRTOMT,TOMTc.491T= (p.Ile164=)
c.*1T= (n.*1T=)
c.590T= (p.Ile197=)
c.*309T= (n.*309T=)
c.64-1034A= (n.64-1034A=)
c.319-1034A= (n.319-1034A=)
c.470T= (p.Ile157=)
c.815T= (p.Ile272=)
c.*180A= (n.*180A=)
n.804A=
11g.72108640C>ACA475592480ANAPC15,LRRC51,LRTOMT,TOMTc.492C>A (p.Ile164=)
c.*2C>A (n.*2C>A)
c.591C>A (p.Ile197=)
c.*310C>A (n.*310C>A)
c.64-1035G>T (n.64-1035G>T)
c.319-1035G>T (n.319-1035G>T)
c.471C>A (p.Ile157=)
c.816C>A (p.Ile272=)
c.*179G>T (n.*179G>T)
n.803G>T
11g.72108640C>GCA381723902ANAPC15,LRRC51,LRTOMT,TOMTc.492C>G (p.Ile164Met)
c.*2C>G (n.*2C>G)
c.591C>G (p.Ile197Met)
c.*310C>G (n.*310C>G)
c.64-1035G>C (n.64-1035G>C)
c.319-1035G>C (n.319-1035G>C)
c.471C>G (p.Ile157Met)
c.816C>G (p.Ile272Met)
c.*179G>C (n.*179G>C)
n.803G>C
gnomAD v4
11g.72108640C>TCA475592481ANAPC15,LRRC51,LRTOMT,TOMTc.492C>T (p.Ile164=)
c.*2C>T (n.*2C>T)
c.591C>T (p.Ile197=)
c.*310C>T (n.*310C>T)
c.64-1035G>A (n.64-1035G>A)
c.319-1035G>A (n.319-1035G>A)
c.471C>T (p.Ile157=)
c.816C>T (p.Ile272=)
c.*179G>A (n.*179G>A)
n.803G>A
11g.72108642delCA2614921588ANAPC15,LRRC51,LRTOMT,TOMTc.494del (p.Pro165ArgfsTer9)
c.*4del (n.*4del)
c.593del (p.Pro198ArgfsTer9)
c.*312del (n.*312del)
c.64-1035del (n.64-1035del)
c.319-1035del (n.319-1035del)
c.473del (p.Pro158ArgfsTer9)
c.818del (p.Pro273ArgfsTer9)
c.*179del (n.*179del)
n.803del
gnomAD v4
11g.72108641C>ACA381723931ANAPC15,LRRC51,LRTOMT,TOMTc.493C>A (p.Pro165Thr)
c.*3C>A (n.*3C>A)
c.592C>A (p.Pro198Thr)
c.*311C>A (n.*311C>A)
c.64-1036G>T (n.64-1036G>T)
c.319-1036G>T (n.319-1036G>T)
c.472C>A (p.Pro158Thr)
c.817C>A (p.Pro273Thr)
c.*178G>T (n.*178G>T)
n.802G>T
11g.72108641C=CA1981841030ANAPC15,LRRC51,LRTOMT,TOMTc.493C= (p.Pro165=)
c.*3C= (n.*3C=)
c.592C= (p.Pro198=)
c.*311C= (n.*311C=)
c.64-1036G= (n.64-1036G=)
c.319-1036G= (n.319-1036G=)
c.472C= (p.Pro158=)
c.817C= (p.Pro273=)
c.*178G= (n.*178G=)
n.802G=
11g.72108641C>GCA381723927ANAPC15,LRRC51,LRTOMT,TOMTc.493C>G (p.Pro165Ala)
c.*3C>G (n.*3C>G)
c.592C>G (p.Pro198Ala)
c.*311C>G (n.*311C>G)
c.64-1036G>C (n.64-1036G>C)
c.319-1036G>C (n.319-1036G>C)
c.472C>G (p.Pro158Ala)
c.817C>G (p.Pro273Ala)
c.*178G>C (n.*178G>C)
n.802G>C
gnomAD v4
11g.72108641C>TCA10640066ANAPC15,LRRC51,LRTOMT,TOMTc.493C>T (p.Pro165Ser)
c.*3C>T (n.*3C>T)
c.592C>T (p.Pro198Ser)
c.*311C>T (n.*311C>T)
c.64-1036G>A (n.64-1036G>A)
c.319-1036G>A (n.319-1036G>A)
c.472C>T (p.Pro158Ser)
c.817C>T (p.Pro273Ser)
c.*178G>A (n.*178G>A)
n.802G>A
ClinVar dbSNP gnomAD v4
11g.72108642C>ACA381723935ANAPC15,LRRC51,LRTOMT,TOMTc.494C>A (p.Pro165Gln)
c.*4C>A (n.*4C>A)
c.593C>A (p.Pro198Gln)
c.*312C>A (n.*312C>A)
c.64-1037G>T (n.64-1037G>T)
c.319-1037G>T (n.319-1037G>T)
c.473C>A (p.Pro158Gln)
c.818C>A (p.Pro273Gln)
c.*177G>T (n.*177G>T)
n.801G>T
gnomAD v4
11g.72108642C=CA1981841031ANAPC15,LRRC51,LRTOMT,TOMTc.494C= (p.Pro165=)
c.*4C= (n.*4C=)
c.593C= (p.Pro198=)
c.*312C= (n.*312C=)
c.64-1037G= (n.64-1037G=)
c.319-1037G= (n.319-1037G=)
c.473C= (p.Pro158=)
c.818C= (p.Pro273=)
c.*177G= (n.*177G=)
n.801G=
11g.72108642C>GCA381723936ANAPC15,LRRC51,LRTOMT,TOMTc.494C>G (p.Pro165Arg)
c.*4C>G (n.*4C>G)
c.593C>G (p.Pro198Arg)
c.*312C>G (n.*312C>G)
c.64-1037G>C (n.64-1037G>C)
c.319-1037G>C (n.319-1037G>C)
c.473C>G (p.Pro158Arg)
c.818C>G (p.Pro273Arg)
c.*177G>C (n.*177G>C)
n.801G>C
11g.72108642C>TCA6168632ANAPC15,LRRC51,LRTOMT,TOMTc.494C>T (p.Pro165Leu)
c.*4C>T (n.*4C>T)
c.593C>T (p.Pro198Leu)
c.*312C>T (n.*312C>T)
c.64-1037G>A (n.64-1037G>A)
c.319-1037G>A (n.319-1037G>A)
c.473C>T (p.Pro158Leu)
c.818C>T (p.Pro273Leu)
c.*177G>A (n.*177G>A)
n.801G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72108643G>ACA224375573ANAPC15,LRRC51,LRTOMT,TOMTc.495G>A (p.Pro165=)
c.*5G>A (n.*5G>A)
c.594G>A (p.Pro198=)
c.*313G>A (n.*313G>A)
c.64-1038C>T (n.64-1038C>T)
c.319-1038C>T (n.319-1038C>T)
c.474G>A (p.Pro158=)
c.819G>A (p.Pro273=)
c.*176C>T (n.*176C>T)
n.800C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72108643G>CCA6168633ANAPC15,LRRC51,LRTOMT,TOMTc.495G>C (p.Pro165=)
c.*5G>C (n.*5G>C)
c.594G>C (p.Pro198=)
c.*313G>C (n.*313G>C)
c.64-1038C>G (n.64-1038C>G)
c.319-1038C>G (n.319-1038C>G)
c.474G>C (p.Pro158=)
c.819G>C (p.Pro273=)
c.*176C>G (n.*176C>G)
n.800C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72108643G=CA1981841032ANAPC15,LRRC51,LRTOMT,TOMTc.495G= (p.Pro165=)
c.*5G= (n.*5G=)
c.594G= (p.Pro198=)
c.*313G= (n.*313G=)
c.64-1038C= (n.64-1038C=)
c.319-1038C= (n.319-1038C=)
c.474G= (p.Pro158=)
c.819G= (p.Pro273=)
c.*176C= (n.*176C=)
n.800C=
11g.72108643G>TCA475592482ANAPC15,LRRC51,LRTOMT,TOMTc.495G>T (p.Pro165=)
c.*5G>T (n.*5G>T)
c.594G>T (p.Pro198=)
c.*313G>T (n.*313G>T)
c.64-1038C>A (n.64-1038C>A)
c.319-1038C>A (n.319-1038C>A)
c.474G>T (p.Pro158=)
c.819G>T (p.Pro273=)
c.*176C>A (n.*176C>A)
n.800C>A
11g.72108644T>ACA381723974ANAPC15,LRRC51,LRTOMT,TOMTc.496T>A (p.Cys166Ser)
c.*6T>A (n.*6T>A)
c.595T>A (p.Cys199Ser)
c.*314T>A (n.*314T>A)
c.64-1039A>T (n.64-1039A>T)
c.319-1039A>T (n.319-1039A>T)
c.475T>A (p.Cys159Ser)
c.820T>A (p.Cys274Ser)
c.*175A>T (n.*175A>T)
n.799A>T
11g.72108644T>CCA381723973ANAPC15,LRRC51,LRTOMT,TOMTc.496T>C (p.Cys166Arg)
c.*6T>C (n.*6T>C)
c.595T>C (p.Cys199Arg)
c.*314T>C (n.*314T>C)
c.64-1039A>G (n.64-1039A>G)
c.319-1039A>G (n.319-1039A>G)
c.475T>C (p.Cys159Arg)
c.820T>C (p.Cys274Arg)
c.*175A>G (n.*175A>G)
n.799A>G
dbSNP gnomAD v2 gnomAD v4
11g.72108644T>GCA381723972ANAPC15,LRRC51,LRTOMT,TOMTc.496T>G (p.Cys166Gly)
c.*6T>G (n.*6T>G)
c.595T>G (p.Cys199Gly)
c.*314T>G (n.*314T>G)
c.64-1039A>C (n.64-1039A>C)
c.319-1039A>C (n.319-1039A>C)
c.475T>G (p.Cys159Gly)
c.820T>G (p.Cys274Gly)
c.*175A>C (n.*175A>C)
n.799A>C
gnomAD v4
11g.72108644T=CA1981841033ANAPC15,LRRC51,LRTOMT,TOMTc.496T= (p.Cys166=)
c.*6T= (n.*6T=)
c.595T= (p.Cys199=)
c.*314T= (n.*314T=)
c.64-1039A= (n.64-1039A=)
c.319-1039A= (n.319-1039A=)
c.475T= (p.Cys159=)
c.820T= (p.Cys274=)
c.*175A= (n.*175A=)
n.799A=
11g.72108645G>ACA381723977ANAPC15,LRRC51,LRTOMT,TOMTc.497G>A (p.Cys166Tyr)
c.*7G>A (n.*7G>A)
c.596G>A (p.Cys199Tyr)
c.*315G>A (n.*315G>A)
c.64-1040C>T (n.64-1040C>T)
c.319-1040C>T (n.319-1040C>T)
c.476G>A (p.Cys159Tyr)
c.821G>A (p.Cys274Tyr)
c.*174C>T (n.*174C>T)
n.798C>T
gnomAD v4
11g.72108645G>CCA381723980ANAPC15,LRRC51,LRTOMT,TOMTc.497G>C (p.Cys166Ser)
c.*7G>C (n.*7G>C)
c.596G>C (p.Cys199Ser)
c.*315G>C (n.*315G>C)
c.64-1040C>G (n.64-1040C>G)
c.319-1040C>G (n.319-1040C>G)
c.476G>C (p.Cys159Ser)
c.821G>C (p.Cys274Ser)
c.*174C>G (n.*174C>G)
n.798C>G
11g.72108645G>TCA381723993ANAPC15,LRRC51,LRTOMT,TOMTc.497G>T (p.Cys166Phe)
c.*7G>T (n.*7G>T)
c.596G>T (p.Cys199Phe)
c.*315G>T (n.*315G>T)
c.64-1040C>A (n.64-1040C>A)
c.319-1040C>A (n.319-1040C>A)
c.476G>T (p.Cys159Phe)
c.821G>T (p.Cys274Phe)
c.*174C>A (n.*174C>A)
n.798C>A
gnomAD v4
11g.72108646C>ACA381723997ANAPC15,LRRC51,LRTOMT,TOMTc.498C>A (p.Cys166Ter)
c.*8C>A (n.*8C>A)
c.597C>A (p.Cys199Ter)
c.*316C>A (n.*316C>A)
c.64-1041G>T (n.64-1041G>T)
c.319-1041G>T (n.319-1041G>T)
c.477C>A (p.Cys159Ter)
c.822C>A (p.Cys274Ter)
c.*173G>T (n.*173G>T)
n.797G>T
11g.72108646C>GCA381724009ANAPC15,LRRC51,LRTOMT,TOMTc.498C>G (p.Cys166Trp)
c.*8C>G (n.*8C>G)
c.597C>G (p.Cys199Trp)
c.*316C>G (n.*316C>G)
c.64-1041G>C (n.64-1041G>C)
c.319-1041G>C (n.319-1041G>C)
c.477C>G (p.Cys159Trp)
c.822C>G (p.Cys274Trp)
c.*173G>C (n.*173G>C)
n.797G>C
11g.72108646C>TCA475592484ANAPC15,LRRC51,LRTOMT,TOMTc.498C>T (p.Cys166=)
c.*8C>T (n.*8C>T)
c.597C>T (p.Cys199=)
c.*316C>T (n.*316C>T)
c.64-1041G>A (n.64-1041G>A)
c.319-1041G>A (n.319-1041G>A)
c.477C>T (p.Cys159=)
c.822C>T (p.Cys274=)
c.*173G>A (n.*173G>A)
n.797G>A
gnomAD v4
11g.72108647C>ACA381724018ANAPC15,LRRC51,LRTOMT,TOMTc.499C>A (p.Leu167Ile)
c.*9C>A (n.*9C>A)
c.598C>A (p.Leu200Ile)
c.*317C>A (n.*317C>A)
c.64-1042G>T (n.64-1042G>T)
c.319-1042G>T (n.319-1042G>T)
c.478C>A (p.Leu160Ile)
c.823C>A (p.Leu275Ile)
c.*172G>T (n.*172G>T)
n.796G>T
11g.72108647C=CA1981841034ANAPC15,LRRC51,LRTOMT,TOMTc.499C= (p.Leu167=)
c.*9C= (n.*9C=)
c.598C= (p.Leu200=)
c.*317C= (n.*317C=)
c.64-1042G= (n.64-1042G=)
c.319-1042G= (n.319-1042G=)
c.478C= (p.Leu160=)
c.823C= (p.Leu275=)
c.*172G= (n.*172G=)
n.796G=
11g.72108647C>GCA381724022ANAPC15,LRRC51,LRTOMT,TOMTc.499C>G (p.Leu167Val)
c.*9C>G (n.*9C>G)
c.598C>G (p.Leu200Val)
c.*317C>G (n.*317C>G)
c.64-1042G>C (n.64-1042G>C)
c.319-1042G>C (n.319-1042G>C)
c.478C>G (p.Leu160Val)
c.823C>G (p.Leu275Val)
c.*172G>C (n.*172G>C)
n.796G>C
dbSNP gnomAD v3 gnomAD v4
11g.72108647C>TCA475592488ANAPC15,LRRC51,LRTOMT,TOMTc.499C>T (p.Leu167=)
c.*9C>T (n.*9C>T)
c.598C>T (p.Leu200=)
c.*317C>T (n.*317C>T)
c.64-1042G>A (n.64-1042G>A)
c.319-1042G>A (n.319-1042G>A)
c.478C>T (p.Leu160=)
c.823C>T (p.Leu275=)
c.*172G>A (n.*172G>A)
n.796G>A
gnomAD v4
11g.72108648T>ACA381724025ANAPC15,LRRC51,LRTOMT,TOMTc.500T>A (p.Leu167Gln)
c.*10T>A (n.*10T>A)
c.599T>A (p.Leu200Gln)
c.*318T>A (n.*318T>A)
c.64-1043A>T (n.64-1043A>T)
c.319-1043A>T (n.319-1043A>T)
c.479T>A (p.Leu160Gln)
c.824T>A (p.Leu275Gln)
c.*171A>T (n.*171A>T)
n.795A>T
11g.72108648T>CCA381724032ANAPC15,LRRC51,LRTOMT,TOMTc.500T>C (p.Leu167Pro)
c.*10T>C (n.*10T>C)
c.599T>C (p.Leu200Pro)
c.*318T>C (n.*318T>C)
c.64-1043A>G (n.64-1043A>G)
c.319-1043A>G (n.319-1043A>G)
c.479T>C (p.Leu160Pro)
c.824T>C (p.Leu275Pro)
c.*171A>G (n.*171A>G)
n.795A>G
gnomAD v4
11g.72108648T>GCA381724031ANAPC15,LRRC51,LRTOMT,TOMTc.500T>G (p.Leu167Arg)
c.*10T>G (n.*10T>G)
c.599T>G (p.Leu200Arg)
c.*318T>G (n.*318T>G)
c.64-1043A>C (n.64-1043A>C)
c.319-1043A>C (n.319-1043A>C)
c.479T>G (p.Leu160Arg)
c.824T>G (p.Leu275Arg)
c.*171A>C (n.*171A>C)
n.795A>C
11g.72108649A>CCA475592491ANAPC15,LRRC51,LRTOMT,TOMTc.501A>C (p.Leu167=)
c.*11A>C (n.*11A>C)
c.600A>C (p.Leu200=)
c.*319A>C (n.*319A>C)
c.64-1044T>G (n.64-1044T>G)
c.319-1044T>G (n.319-1044T>G)
c.480A>C (p.Leu160=)
c.825A>C (p.Leu275=)
c.*170T>G (n.*170T>G)
n.794T>G
gnomAD v4
11g.72108649A>GCA475592490ANAPC15,LRRC51,LRTOMT,TOMTc.501A>G (p.Leu167=)
c.*11A>G (n.*11A>G)
c.600A>G (p.Leu200=)
c.*319A>G (n.*319A>G)
c.64-1044T>C (n.64-1044T>C)
c.319-1044T>C (n.319-1044T>C)
c.480A>G (p.Leu160=)
c.825A>G (p.Leu275=)
c.*170T>C (n.*170T>C)
n.794T>C
11g.72108649A>TCA475592489ANAPC15,LRRC51,LRTOMT,TOMTc.501A>T (p.Leu167=)
c.*11A>T (n.*11A>T)
c.600A>T (p.Leu200=)
c.*319A>T (n.*319A>T)
c.64-1044T>A (n.64-1044T>A)
c.319-1044T>A (n.319-1044T>A)
c.480A>T (p.Leu160=)
c.825A>T (p.Leu275=)
c.*170T>A (n.*170T>A)
n.794T>A
11g.72108650C>ACA381724035ANAPC15,LRRC51,LRTOMT,TOMTc.502C>A (p.Arg168Ser)
c.*12C>A (n.*12C>A)
c.601C>A (p.Arg201Ser)
c.*320C>A (n.*320C>A)
c.64-1045G>T (n.64-1045G>T)
c.319-1045G>T (n.319-1045G>T)
c.481C>A (p.Arg161Ser)
c.826C>A (p.Arg276Ser)
c.*169G>T (n.*169G>T)
n.793G>T
gnomAD v4
11g.72108650C=CA1981841035ANAPC15,LRRC51,LRTOMT,TOMTc.502C= (p.Arg168=)
c.*12C= (n.*12C=)
c.601C= (p.Arg201=)
c.*320C= (n.*320C=)
c.64-1045G= (n.64-1045G=)
c.319-1045G= (n.319-1045G=)
c.481C= (p.Arg161=)
c.826C= (p.Arg276=)
c.*169G= (n.*169G=)
n.793G=
11g.72108650C>GCA381724043ANAPC15,LRRC51,LRTOMT,TOMTc.502C>G (p.Arg168Gly)
c.*12C>G (n.*12C>G)
c.601C>G (p.Arg201Gly)
c.*320C>G (n.*320C>G)
c.64-1045G>C (n.64-1045G>C)
c.319-1045G>C (n.319-1045G>C)
c.481C>G (p.Arg161Gly)
c.826C>G (p.Arg276Gly)
c.*169G>C (n.*169G>C)
n.793G>C
gnomAD v4
11g.72108650C>TCA224375574ANAPC15,LRRC51,LRTOMT,TOMTc.502C>T (p.Arg168Cys)
c.*12C>T (n.*12C>T)
c.601C>T (p.Arg201Cys)
c.*320C>T (n.*320C>T)
c.64-1045G>A (n.64-1045G>A)
c.319-1045G>A (n.319-1045G>A)
c.481C>T (p.Arg161Cys)
c.826C>T (p.Arg276Cys)
c.*169G>A (n.*169G>A)
n.793G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72108651G>ACA381724048ANAPC15,LRRC51,LRTOMT,TOMTc.503G>A (p.Arg168His)
c.*13G>A (n.*13G>A)
c.602G>A (p.Arg201His)
c.*321G>A (n.*321G>A)
c.64-1046C>T (n.64-1046C>T)
c.319-1046C>T (n.319-1046C>T)
c.482G>A (p.Arg161His)
c.827G>A (p.Arg276His)
c.*168C>T (n.*168C>T)
n.792C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72108651G>CCA381724049ANAPC15,LRRC51,LRTOMT,TOMTc.503G>C (p.Arg168Pro)
c.*13G>C (n.*13G>C)
c.602G>C (p.Arg201Pro)
c.*321G>C (n.*321G>C)
c.64-1046C>G (n.64-1046C>G)
c.319-1046C>G (n.319-1046C>G)
c.482G>C (p.Arg161Pro)
c.827G>C (p.Arg276Pro)
c.*168C>G (n.*168C>G)
n.792C>G
dbSNP gnomAD v4
11g.72108651G=CA1981841036ANAPC15,LRRC51,LRTOMT,TOMTc.503G= (p.Arg168=)
c.*13G= (n.*13G=)
c.602G= (p.Arg201=)
c.*321G= (n.*321G=)
c.64-1046C= (n.64-1046C=)
c.319-1046C= (n.319-1046C=)
c.482G= (p.Arg161=)
c.827G= (p.Arg276=)
c.*168C= (n.*168C=)
n.792C=
11g.72108651G>TCA381724051ANAPC15,LRRC51,LRTOMT,TOMTc.503G>T (p.Arg168Leu)
c.*13G>T (n.*13G>T)
c.602G>T (p.Arg201Leu)
c.*321G>T (n.*321G>T)
c.64-1046C>A (n.64-1046C>A)
c.319-1046C>A (n.319-1046C>A)
c.482G>T (p.Arg161Leu)
c.827G>T (p.Arg276Leu)
c.*168C>A (n.*168C>A)
n.792C>A
gnomAD v4
11g.72108652C>ACA475592493ANAPC15,LRRC51,LRTOMT,TOMTc.504C>A (p.Arg168=)
c.*14C>A (n.*14C>A)
c.603C>A (p.Arg201=)
c.*322C>A (n.*322C>A)
c.64-1047G>T (n.64-1047G>T)
c.319-1047G>T (n.319-1047G>T)
c.483C>A (p.Arg161=)
c.828C>A (p.Arg276=)
c.*167G>T (n.*167G>T)
n.791G>T
11g.72108652C>GCA475592494ANAPC15,LRRC51,LRTOMT,TOMTc.504C>G (p.Arg168=)
c.*14C>G (n.*14C>G)
c.603C>G (p.Arg201=)
c.*322C>G (n.*322C>G)
c.64-1047G>C (n.64-1047G>C)
c.319-1047G>C (n.319-1047G>C)
c.483C>G (p.Arg161=)
c.828C>G (p.Arg276=)
c.*167G>C (n.*167G>C)
n.791G>C
11g.72108652C>TCA475592495ANAPC15,LRRC51,LRTOMT,TOMTc.504C>T (p.Arg168=)
c.*14C>T (n.*14C>T)
c.603C>T (p.Arg201=)
c.*322C>T (n.*322C>T)
c.64-1047G>A (n.64-1047G>A)
c.319-1047G>A (n.319-1047G>A)
c.483C>T (p.Arg161=)
c.828C>T (p.Arg276=)
c.*167G>A (n.*167G>A)
n.791G>A
gnomAD v4
11g.72108653A>CCA381724056ANAPC15,LRRC51,LRTOMT,TOMTc.505A>C (p.Thr169Pro)
c.*15A>C (n.*15A>C)
c.604A>C (p.Thr202Pro)
c.*323A>C (n.*323A>C)
c.64-1048T>G (n.64-1048T>G)
c.319-1048T>G (n.319-1048T>G)
c.484A>C (p.Thr162Pro)
c.829A>C (p.Thr277Pro)
c.*166T>G (n.*166T>G)
n.790T>G
11g.72108653A>GCA381724062ANAPC15,LRRC51,LRTOMT,TOMTc.505A>G (p.Thr169Ala)
c.*15A>G (n.*15A>G)
c.604A>G (p.Thr202Ala)
c.*323A>G (n.*323A>G)
c.64-1048T>C (n.64-1048T>C)
c.319-1048T>C (n.319-1048T>C)
c.484A>G (p.Thr162Ala)
c.829A>G (p.Thr277Ala)
c.*166T>C (n.*166T>C)
n.790T>C
11g.72108653A>TCA381724076ANAPC15,LRRC51,LRTOMT,TOMTc.505A>T (p.Thr169Ser)
c.*15A>T (n.*15A>T)
c.604A>T (p.Thr202Ser)
c.*323A>T (n.*323A>T)
c.64-1048T>A (n.64-1048T>A)
c.319-1048T>A (n.319-1048T>A)
c.484A>T (p.Thr162Ser)
c.829A>T (p.Thr277Ser)
c.*166T>A (n.*166T>A)
n.790T>A
11g.72108654C>ACA381724080ANAPC15,LRRC51,LRTOMT,TOMTc.506C>A (p.Thr169Asn)
c.*16C>A (n.*16C>A)
c.605C>A (p.Thr202Asn)
c.*324C>A (n.*324C>A)
c.64-1049G>T (n.64-1049G>T)
c.319-1049G>T (n.319-1049G>T)
c.485C>A (p.Thr162Asn)
c.830C>A (p.Thr277Asn)
c.*165G>T (n.*165G>T)
n.789G>T
11g.72108654C=CA1981841037ANAPC15,LRRC51,LRTOMT,TOMTc.506C= (p.Thr169=)
c.*16C= (n.*16C=)
c.605C= (p.Thr202=)
c.*324C= (n.*324C=)
c.64-1049G= (n.64-1049G=)
c.319-1049G= (n.319-1049G=)
c.485C= (p.Thr162=)
c.830C= (p.Thr277=)
c.*165G= (n.*165G=)
n.789G=
11g.72108654C>GCA381724081ANAPC15,LRRC51,LRTOMT,TOMTc.506C>G (p.Thr169Ser)
c.*16C>G (n.*16C>G)
c.605C>G (p.Thr202Ser)
c.*324C>G (n.*324C>G)
c.64-1049G>C (n.64-1049G>C)
c.319-1049G>C (n.319-1049G>C)
c.485C>G (p.Thr162Ser)
c.830C>G (p.Thr277Ser)
c.*165G>C (n.*165G>C)
n.789G>C
dbSNP gnomAD v3 gnomAD v4
11g.72108654C>TCA381724082ANAPC15,LRRC51,LRTOMT,TOMTc.506C>T (p.Thr169Ile)
c.*16C>T (n.*16C>T)
c.605C>T (p.Thr202Ile)
c.*324C>T (n.*324C>T)
c.64-1049G>A (n.64-1049G>A)
c.319-1049G>A (n.319-1049G>A)
c.485C>T (p.Thr162Ile)
c.830C>T (p.Thr277Ile)
c.*165G>A (n.*165G>A)
n.789G>A
gnomAD v4
11g.72108655C>ACA475592498ANAPC15,LRRC51,LRTOMT,TOMTc.507C>A (p.Thr169=)
c.*17C>A (n.*17C>A)
c.606C>A (p.Thr202=)
c.*325C>A (n.*325C>A)
c.64-1050G>T (n.64-1050G>T)
c.319-1050G>T (n.319-1050G>T)
c.486C>A (p.Thr162=)
c.831C>A (p.Thr277=)
c.*164G>T (n.*164G>T)
n.788G>T
dbSNP
11g.72108655C=CA1981841038ANAPC15,LRRC51,LRTOMT,TOMTc.507C= (p.Thr169=)
c.*17C= (n.*17C=)
c.606C= (p.Thr202=)
c.*325C= (n.*325C=)
c.64-1050G= (n.64-1050G=)
c.319-1050G= (n.319-1050G=)
c.486C= (p.Thr162=)
c.831C= (p.Thr277=)
c.*164G= (n.*164G=)
n.788G=
11g.72108655C>GCA475592499ANAPC15,LRRC51,LRTOMT,TOMTc.507C>G (p.Thr169=)
c.*17C>G (n.*17C>G)
c.606C>G (p.Thr202=)
c.*325C>G (n.*325C>G)
c.64-1050G>C (n.64-1050G>C)
c.319-1050G>C (n.319-1050G>C)
c.486C>G (p.Thr162=)
c.831C>G (p.Thr277=)
c.*164G>C (n.*164G>C)
n.788G>C
11g.72108655C>TCA475592500ANAPC15,LRRC51,LRTOMT,TOMTc.507C>T (p.Thr169=)
c.*17C>T (n.*17C>T)
c.606C>T (p.Thr202=)
c.*325C>T (n.*325C>T)
c.64-1050G>A (n.64-1050G>A)
c.319-1050G>A (n.319-1050G>A)
c.486C>T (p.Thr162=)
c.831C>T (p.Thr277=)
c.*164G>A (n.*164G>A)
n.788G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.72108656C>ACA381724086ANAPC15,LRRC51,LRTOMT,TOMTc.508C>A (p.Gln170Lys)
c.*18C>A (n.*18C>A)
c.607C>A (p.Gln203Lys)
c.*326C>A (n.*326C>A)
c.64-1051G>T (n.64-1051G>T)
c.319-1051G>T (n.319-1051G>T)
c.487C>A (p.Gln163Lys)
c.832C>A (p.Gln278Lys)
c.*163G>T (n.*163G>T)
n.787G>T
11g.72108656C>GCA381724088ANAPC15,LRRC51,LRTOMT,TOMTc.508C>G (p.Gln170Glu)
c.*18C>G (n.*18C>G)
c.607C>G (p.Gln203Glu)
c.*326C>G (n.*326C>G)
c.64-1051G>C (n.64-1051G>C)
c.319-1051G>C (n.319-1051G>C)
c.487C>G (p.Gln163Glu)
c.832C>G (p.Gln278Glu)
c.*163G>C (n.*163G>C)
n.787G>C
11g.72108656C>TCA381724087ANAPC15,LRRC51,LRTOMT,TOMTc.508C>T (p.Gln170Ter)
c.*18C>T (n.*18C>T)
c.607C>T (p.Gln203Ter)
c.*326C>T (n.*326C>T)
c.64-1051G>A (n.64-1051G>A)
c.319-1051G>A (n.319-1051G>A)
c.487C>T (p.Gln163Ter)
c.832C>T (p.Gln278Ter)
c.*163G>A (n.*163G>A)
n.787G>A
11g.72108657A>CCA381724096ANAPC15,LRRC51,LRTOMT,TOMTc.509A>C (p.Gln170Pro)
c.*19A>C (n.*19A>C)
c.608A>C (p.Gln203Pro)
c.*327A>C (n.*327A>C)
c.64-1052T>G (n.64-1052T>G)
c.319-1052T>G (n.319-1052T>G)
c.488A>C (p.Gln163Pro)
c.833A>C (p.Gln278Pro)
c.*162T>G (n.*162T>G)
n.786T>G
11g.72108657A>GCA381724099ANAPC15,LRRC51,LRTOMT,TOMTc.509A>G (p.Gln170Arg)
c.*19A>G (n.*19A>G)
c.608A>G (p.Gln203Arg)
c.*327A>G (n.*327A>G)
c.64-1052T>C (n.64-1052T>C)
c.319-1052T>C (n.319-1052T>C)
c.488A>G (p.Gln163Arg)
c.833A>G (p.Gln278Arg)
c.*162T>C (n.*162T>C)
n.786T>C
11g.72108657A>TCA381724102ANAPC15,LRRC51,LRTOMT,TOMTc.509A>T (p.Gln170Leu)
c.*19A>T (n.*19A>T)
c.608A>T (p.Gln203Leu)
c.*327A>T (n.*327A>T)
c.64-1052T>A (n.64-1052T>A)
c.319-1052T>A (n.319-1052T>A)
c.488A>T (p.Gln163Leu)
c.833A>T (p.Gln278Leu)
c.*162T>A (n.*162T>A)
n.786T>A
11g.72108658G>ACA475592504ANAPC15,LRRC51,LRTOMT,TOMTc.510G>A (p.Gln170=)
c.*20G>A (n.*20G>A)
c.609G>A (p.Gln203=)
c.*328G>A (n.*328G>A)
c.64-1053C>T (n.64-1053C>T)
c.319-1053C>T (n.319-1053C>T)
c.489G>A (p.Gln163=)
c.834G>A (p.Gln278=)
c.*161C>T (n.*161C>T)
n.785C>T
11g.72108658G>CCA381724107ANAPC15,LRRC51,LRTOMT,TOMTc.510G>C (p.Gln170His)
c.*20G>C (n.*20G>C)
c.609G>C (p.Gln203His)
c.*328G>C (n.*328G>C)
c.64-1053C>G (n.64-1053C>G)
c.319-1053C>G (n.319-1053C>G)
c.489G>C (p.Gln163His)
c.834G>C (p.Gln278His)
c.*161C>G (n.*161C>G)
n.785C>G
11g.72108658G>TCA381724109ANAPC15,LRRC51,LRTOMT,TOMTc.510G>T (p.Gln170His)
c.*20G>T (n.*20G>T)
c.609G>T (p.Gln203His)
c.*328G>T (n.*328G>T)
c.64-1053C>A (n.64-1053C>A)
c.319-1053C>A (n.319-1053C>A)
c.489G>T (p.Gln163His)
c.834G>T (p.Gln278His)
c.*161C>A (n.*161C>A)
n.785C>A
gnomAD v4
11g.72108659T>ACA381724112ANAPC15,LRRC51,LRTOMT,TOMTc.511T>A (p.Tyr171Asn)
c.*21T>A (n.*21T>A)
c.610T>A (p.Tyr204Asn)
c.*329T>A (n.*329T>A)
c.64-1054A>T (n.64-1054A>T)
c.319-1054A>T (n.319-1054A>T)
c.490T>A (p.Tyr164Asn)
c.835T>A (p.Tyr279Asn)
c.*160A>T (n.*160A>T)
n.784A>T
11g.72108659T>CCA381724117ANAPC15,LRRC51,LRTOMT,TOMTc.511T>C (p.Tyr171His)
c.*21T>C (n.*21T>C)
c.610T>C (p.Tyr204His)
c.*329T>C (n.*329T>C)
c.64-1054A>G (n.64-1054A>G)
c.319-1054A>G (n.319-1054A>G)
c.490T>C (p.Tyr164His)
c.835T>C (p.Tyr279His)
c.*160A>G (n.*160A>G)
n.784A>G
dbSNP
11g.72108659T>GCA381724120ANAPC15,LRRC51,LRTOMT,TOMTc.511T>G (p.Tyr171Asp)
c.*21T>G (n.*21T>G)
c.610T>G (p.Tyr204Asp)
c.*329T>G (n.*329T>G)
c.64-1054A>C (n.64-1054A>C)
c.319-1054A>C (n.319-1054A>C)
c.490T>G (p.Tyr164Asp)
c.835T>G (p.Tyr279Asp)
c.*160A>C (n.*160A>C)
n.784A>C
11g.72108660A>CCA381724125ANAPC15,LRRC51,LRTOMT,TOMTc.512A>C (p.Tyr171Ser)
c.*22A>C (n.*22A>C)
c.611A>C (p.Tyr204Ser)
c.*330A>C (n.*330A>C)
c.64-1055T>G (n.64-1055T>G)
c.319-1055T>G (n.319-1055T>G)
c.491A>C (p.Tyr164Ser)
c.836A>C (p.Tyr279Ser)
c.*159T>G (n.*159T>G)
n.783T>G
11g.72108660A>GCA381724126ANAPC15,LRRC51,LRTOMT,TOMTc.512A>G (p.Tyr171Cys)
c.*22A>G (n.*22A>G)
c.611A>G (p.Tyr204Cys)
c.*330A>G (n.*330A>G)
c.64-1055T>C (n.64-1055T>C)
c.319-1055T>C (n.319-1055T>C)
c.491A>G (p.Tyr164Cys)
c.836A>G (p.Tyr279Cys)
c.*159T>C (n.*159T>C)
n.783T>C
11g.72108660A>TCA381724129ANAPC15,LRRC51,LRTOMT,TOMTc.512A>T (p.Tyr171Phe)
c.*22A>T (n.*22A>T)
c.611A>T (p.Tyr204Phe)
c.*330A>T (n.*330A>T)
c.64-1055T>A (n.64-1055T>A)
c.319-1055T>A (n.319-1055T>A)
c.491A>T (p.Tyr164Phe)
c.836A>T (p.Tyr279Phe)
c.*159T>A (n.*159T>A)
n.783T>A
11g.72108661T>ACA381724133ANAPC15,LRRC51,LRTOMT,TOMTc.513T>A (p.Tyr171Ter)
c.*23T>A (n.*23T>A)
c.612T>A (p.Tyr204Ter)
c.*331T>A (n.*331T>A)
c.64-1056A>T (n.64-1056A>T)
c.319-1056A>T (n.319-1056A>T)
c.492T>A (p.Tyr164Ter)
c.837T>A (p.Tyr279Ter)
c.*158A>T (n.*158A>T)
n.782A>T
gnomAD v4
11g.72108661T>CCA475592506ANAPC15,LRRC51,LRTOMT,TOMTc.513T>C (p.Tyr171=)
c.*23T>C (n.*23T>C)
c.612T>C (p.Tyr204=)
c.*331T>C (n.*331T>C)
c.64-1056A>G (n.64-1056A>G)
c.319-1056A>G (n.319-1056A>G)
c.492T>C (p.Tyr164=)
c.837T>C (p.Tyr279=)
c.*158A>G (n.*158A>G)
n.782A>G
dbSNP
11g.72108661T>GCA381724147ANAPC15,LRRC51,LRTOMT,TOMTc.513T>G (p.Tyr171Ter)
c.*23T>G (n.*23T>G)
c.612T>G (p.Tyr204Ter)
c.*331T>G (n.*331T>G)
c.64-1056A>C (n.64-1056A>C)
c.319-1056A>C (n.319-1056A>C)
c.492T>G (p.Tyr164Ter)
c.837T>G (p.Tyr279Ter)
c.*158A>C (n.*158A>C)
n.782A>C
11g.72108661T=CA1981841039ANAPC15,LRRC51,LRTOMT,TOMTc.513T= (p.Tyr171=)
c.*23T= (n.*23T=)
c.612T= (p.Tyr204=)
c.*331T= (n.*331T=)
c.64-1056A= (n.64-1056A=)
c.319-1056A= (n.319-1056A=)
c.492T= (p.Tyr164=)
c.837T= (p.Tyr279=)
c.*158A= (n.*158A=)
n.782A=
11g.72108662C>ACA381724162ANAPC15,LRRC51,LRTOMT,TOMTc.514C>A (p.Gln172Lys)
c.*24C>A (n.*24C>A)
c.613C>A (p.Gln205Lys)
c.*332C>A (n.*332C>A)
c.64-1057G>T (n.64-1057G>T)
c.319-1057G>T (n.319-1057G>T)
c.493C>A (p.Gln165Lys)
c.838C>A (p.Gln280Lys)
c.*157G>T (n.*157G>T)
n.781G>T
11g.72108662C=CA1981841040ANAPC15,LRRC51,LRTOMT,TOMTc.514C= (p.Gln172=)
c.*24C= (n.*24C=)
c.613C= (p.Gln205=)
c.*332C= (n.*332C=)
c.64-1057G= (n.64-1057G=)
c.319-1057G= (n.319-1057G=)
c.493C= (p.Gln165=)
c.838C= (p.Gln280=)
c.*157G= (n.*157G=)
n.781G=
11g.72108662C>GCA381724159ANAPC15,LRRC51,LRTOMT,TOMTc.514C>G (p.Gln172Glu)
c.*24C>G (n.*24C>G)
c.613C>G (p.Gln205Glu)
c.*332C>G (n.*332C>G)
c.64-1057G>C (n.64-1057G>C)
c.319-1057G>C (n.319-1057G>C)
c.493C>G (p.Gln165Glu)
c.838C>G (p.Gln280Glu)
c.*157G>C (n.*157G>C)
n.781G>C
11g.72108662C>TCA381724161ANAPC15,LRRC51,LRTOMT,TOMTc.514C>T (p.Gln172Ter)
c.*24C>T (n.*24C>T)
c.613C>T (p.Gln205Ter)
c.*332C>T (n.*332C>T)
c.64-1057G>A (n.64-1057G>A)
c.319-1057G>A (n.319-1057G>A)
c.493C>T (p.Gln165Ter)
c.838C>T (p.Gln280Ter)
c.*157G>A (n.*157G>A)
n.781G>A
11g.72108663A>CCA381724172ANAPC15,LRRC51,LRTOMT,TOMTc.515A>C (p.Gln172Pro)
c.*25A>C (n.*25A>C)
c.614A>C (p.Gln205Pro)
c.*333A>C (n.*333A>C)
c.64-1058T>G (n.64-1058T>G)
c.319-1058T>G (n.319-1058T>G)
c.494A>C (p.Gln165Pro)
c.839A>C (p.Gln280Pro)
c.*156T>G (n.*156T>G)
n.780T>G
gnomAD v4
11g.72108663A>GCA381724173ANAPC15,LRRC51,LRTOMT,TOMTc.515A>G (p.Gln172Arg)
c.*25A>G (n.*25A>G)
c.614A>G (p.Gln205Arg)
c.*333A>G (n.*333A>G)
c.64-1058T>C (n.64-1058T>C)
c.319-1058T>C (n.319-1058T>C)
c.494A>G (p.Gln165Arg)
c.839A>G (p.Gln280Arg)
c.*156T>C (n.*156T>C)
n.780T>C
gnomAD v4
11g.72108663A>TCA381724174ANAPC15,LRRC51,LRTOMT,TOMTc.515A>T (p.Gln172Leu)
c.*25A>T (n.*25A>T)
c.614A>T (p.Gln205Leu)
c.*333A>T (n.*333A>T)
c.64-1058T>A (n.64-1058T>A)
c.319-1058T>A (n.319-1058T>A)
c.494A>T (p.Gln165Leu)
c.839A>T (p.Gln280Leu)
c.*156T>A (n.*156T>A)
n.780T>A
11g.72108663_72108666dupCA204751ANAPC15,LRRC51,LRTOMT,TOMTc.515_518dup (p.Ser174AlafsTer?)
c.*25_*28dup (n.*25_*28dup)
c.614_617dup (p.Ser207AlafsTer?)
c.*333_*336dup (n.*333_*336dup)
c.64-1061_64-1058dup (n.64-1061_64-1058dup)
c.319-1061_319-1058dup (n.319-1061_319-1058dup)
c.494_497dup (p.Ser167AlafsTer?)
c.839_842dup (p.Ser282AlafsTer?)
c.*153_*156dup (n.*153_*156dup)
n.777_780dup
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.72108664G>ACA224375578ANAPC15,LRRC51,LRTOMT,TOMTc.516G>A (p.Gln172=)
c.*26G>A (n.*26G>A)
c.615G>A (p.Gln205=)
c.*334G>A (n.*334G>A)
c.64-1059C>T (n.64-1059C>T)
c.319-1059C>T (n.319-1059C>T)
c.495G>A (p.Gln165=)
c.840G>A (p.Gln280=)
c.*155C>T (n.*155C>T)
n.779C>T
dbSNP gnomAD v4
11g.72108664G>CCA381724177ANAPC15,LRRC51,LRTOMT,TOMTc.516G>C (p.Gln172His)
c.*26G>C (n.*26G>C)
c.615G>C (p.Gln205His)
c.*334G>C (n.*334G>C)
c.64-1059C>G (n.64-1059C>G)
c.319-1059C>G (n.319-1059C>G)
c.495G>C (p.Gln165His)
c.840G>C (p.Gln280His)
c.*155C>G (n.*155C>G)
n.779C>G
11g.72108664G=CA1981841041ANAPC15,LRRC51,LRTOMT,TOMTc.516G= (p.Gln172=)
c.*26G= (n.*26G=)
c.615G= (p.Gln205=)
c.*334G= (n.*334G=)
c.64-1059C= (n.64-1059C=)
c.319-1059C= (n.319-1059C=)
c.495G= (p.Gln165=)
c.840G= (p.Gln280=)
c.*155C= (n.*155C=)
n.779C=
11g.72108664G>TCA381724178ANAPC15,LRRC51,LRTOMT,TOMTc.516G>T (p.Gln172His)
c.*26G>T (n.*26G>T)
c.615G>T (p.Gln205His)
c.*334G>T (n.*334G>T)
c.64-1059C>A (n.64-1059C>A)
c.319-1059C>A (n.319-1059C>A)
c.495G>T (p.Gln165His)
c.840G>T (p.Gln280His)
c.*155C>A (n.*155C>A)
n.779C>A
gnomAD v4
11g.72108665C>ACA381724182ANAPC15,LRRC51,LRTOMT,TOMTc.517C>A (p.Leu173Met)
c.*27C>A (n.*27C>A)
c.616C>A (p.Leu206Met)
c.*335C>A (n.*335C>A)
c.64-1060G>T (n.64-1060G>T)
c.319-1060G>T (n.319-1060G>T)
c.496C>A (p.Leu166Met)
c.841C>A (p.Leu281Met)
c.*154G>T (n.*154G>T)
n.778G>T
gnomAD v4
11g.72108665C>GCA381724189ANAPC15,LRRC51,LRTOMT,TOMTc.517C>G (p.Leu173Val)
c.*27C>G (n.*27C>G)
c.616C>G (p.Leu206Val)
c.*335C>G (n.*335C>G)
c.64-1060G>C (n.64-1060G>C)
c.319-1060G>C (n.319-1060G>C)
c.496C>G (p.Leu166Val)
c.841C>G (p.Leu281Val)
c.*154G>C (n.*154G>C)
n.778G>C
11g.72108665C>TCA475592511ANAPC15,LRRC51,LRTOMT,TOMTc.517C>T (p.Leu173=)
c.*27C>T (n.*27C>T)
c.616C>T (p.Leu206=)
c.*335C>T (n.*335C>T)
c.64-1060G>A (n.64-1060G>A)
c.319-1060G>A (n.319-1060G>A)
c.496C>T (p.Leu166=)
c.841C>T (p.Leu281=)
c.*154G>A (n.*154G>A)
n.778G>A
gnomAD v4
11g.72108666T>ACA381724208ANAPC15,LRRC51,LRTOMT,TOMTc.518T>A (p.Leu173Gln)
c.*28T>A (n.*28T>A)
c.617T>A (p.Leu206Gln)
c.*336T>A (n.*336T>A)
c.64-1061A>T (n.64-1061A>T)
c.319-1061A>T (n.319-1061A>T)
c.497T>A (p.Leu166Gln)
c.842T>A (p.Leu281Gln)
c.*153A>T (n.*153A>T)
n.777A>T
11g.72108666T>CCA381724216ANAPC15,LRRC51,LRTOMT,TOMTc.518T>C (p.Leu173Pro)
c.*28T>C (n.*28T>C)
c.617T>C (p.Leu206Pro)
c.*336T>C (n.*336T>C)
c.64-1061A>G (n.64-1061A>G)
c.319-1061A>G (n.319-1061A>G)
c.497T>C (p.Leu166Pro)
c.842T>C (p.Leu281Pro)
c.*153A>G (n.*153A>G)
n.777A>G
dbSNP gnomAD v3 gnomAD v4
11g.72108666T>GCA381724219ANAPC15,LRRC51,LRTOMT,TOMTc.518T>G (p.Leu173Arg)
c.*28T>G (n.*28T>G)
c.617T>G (p.Leu206Arg)
c.*336T>G (n.*336T>G)
c.64-1061A>C (n.64-1061A>C)
c.319-1061A>C (n.319-1061A>C)
c.497T>G (p.Leu166Arg)
c.842T>G (p.Leu281Arg)
c.*153A>C (n.*153A>C)
n.777A>C
gnomAD v4
11g.72108666T=CA1981841042ANAPC15,LRRC51,LRTOMT,TOMTc.518T= (p.Leu173=)
c.*28T= (n.*28T=)
c.617T= (p.Leu206=)
c.*336T= (n.*336T=)
c.64-1061A= (n.64-1061A=)
c.319-1061A= (n.319-1061A=)
c.497T= (p.Leu166=)
c.842T= (p.Leu281=)
c.*153A= (n.*153A=)
n.777A=
11g.72108667G>ACA475592512ANAPC15,LRRC51,LRTOMT,TOMTc.519G>A (p.Leu173=)
c.*29G>A (n.*29G>A)
c.618G>A (p.Leu206=)
c.*337G>A (n.*337G>A)
c.64-1062C>T (n.64-1062C>T)
c.319-1062C>T (n.319-1062C>T)
c.498G>A (p.Leu166=)
c.843G>A (p.Leu281=)
c.*152C>T (n.*152C>T)
n.776C>T
COSMIC
11g.72108667G>CCA475592513ANAPC15,LRRC51,LRTOMT,TOMTc.519G>C (p.Leu173=)
c.*29G>C (n.*29G>C)
c.618G>C (p.Leu206=)
c.*337G>C (n.*337G>C)
c.64-1062C>G (n.64-1062C>G)
c.319-1062C>G (n.319-1062C>G)
c.498G>C (p.Leu166=)
c.843G>C (p.Leu281=)
c.*152C>G (n.*152C>G)
n.776C>G
11g.72108667G>TCA475592514ANAPC15,LRRC51,LRTOMT,TOMTc.519G>T (p.Leu173=)
c.*29G>T (n.*29G>T)
c.618G>T (p.Leu206=)
c.*337G>T (n.*337G>T)
c.64-1062C>A (n.64-1062C>A)
c.319-1062C>A (n.319-1062C>A)
c.498G>T (p.Leu166=)
c.843G>T (p.Leu281=)
c.*152C>A (n.*152C>A)
n.776C>A
11g.72108668A>CCA381724228ANAPC15,LRRC51,LRTOMT,TOMTc.520A>C (p.Ser174Arg)
c.*30A>C (n.*30A>C)
c.619A>C (p.Ser207Arg)
c.*338A>C (n.*338A>C)
c.64-1063T>G (n.64-1063T>G)
c.319-1063T>G (n.319-1063T>G)
c.499A>C (p.Ser167Arg)
c.844A>C (p.Ser282Arg)
c.*151T>G (n.*151T>G)
n.775T>G
11g.72108668A>GCA381724232ANAPC15,LRRC51,LRTOMT,TOMTc.520A>G (p.Ser174Gly)
c.*30A>G (n.*30A>G)
c.619A>G (p.Ser207Gly)
c.*338A>G (n.*338A>G)
c.64-1063T>C (n.64-1063T>C)
c.319-1063T>C (n.319-1063T>C)
c.499A>G (p.Ser167Gly)
c.844A>G (p.Ser282Gly)
c.*151T>C (n.*151T>C)
n.775T>C
11g.72108668A>TCA381724229ANAPC15,LRRC51,LRTOMT,TOMTc.520A>T (p.Ser174Cys)
c.*30A>T (n.*30A>T)
c.619A>T (p.Ser207Cys)
c.*338A>T (n.*338A>T)
c.64-1063T>A (n.64-1063T>A)
c.319-1063T>A (n.319-1063T>A)
c.499A>T (p.Ser167Cys)
c.844A>T (p.Ser282Cys)
c.*151T>A (n.*151T>A)
n.775T>A
gnomAD v4
11g.72108669G>ACA381724235ANAPC15,LRRC51,LRTOMT,TOMTc.521G>A (p.Ser174Asn)
c.*31G>A (n.*31G>A)
c.620G>A (p.Ser207Asn)
c.*339G>A (n.*339G>A)
c.64-1064C>T (n.64-1064C>T)
c.319-1064C>T (n.319-1064C>T)
c.500G>A (p.Ser167Asn)
c.845G>A (p.Ser282Asn)
c.*150C>T (n.*150C>T)
n.774C>T
11g.72108669G>CCA381724237ANAPC15,LRRC51,LRTOMT,TOMTc.521G>C (p.Ser174Thr)
c.*31G>C (n.*31G>C)
c.620G>C (p.Ser207Thr)
c.*339G>C (n.*339G>C)
c.64-1064C>G (n.64-1064C>G)
c.319-1064C>G (n.319-1064C>G)
c.500G>C (p.Ser167Thr)
c.845G>C (p.Ser282Thr)
c.*150C>G (n.*150C>G)
n.774C>G
11g.72108669G>TCA381724240ANAPC15,LRRC51,LRTOMT,TOMTc.521G>T (p.Ser174Ile)
c.*31G>T (n.*31G>T)
c.620G>T (p.Ser207Ile)
c.*339G>T (n.*339G>T)
c.64-1064C>A (n.64-1064C>A)
c.319-1064C>A (n.319-1064C>A)
c.500G>T (p.Ser167Ile)
c.845G>T (p.Ser282Ile)
c.*150C>A (n.*150C>A)
n.774C>A
gnomAD v4
11g.72108670T>ACA381724247ANAPC15,LRRC51,LRTOMT,TOMTc.522T>A (p.Ser174Arg)
c.*32T>A (n.*32T>A)
c.621T>A (p.Ser207Arg)
c.*340T>A (n.*340T>A)
c.64-1065A>T (n.64-1065A>T)
c.319-1065A>T (n.319-1065A>T)
c.501T>A (p.Ser167Arg)
c.846T>A (p.Ser282Arg)
c.*149A>T (n.*149A>T)
n.773A>T
11g.72108670T>CCA475592518ANAPC15,LRRC51,LRTOMT,TOMTc.522T>C (p.Ser174=)
c.*32T>C (n.*32T>C)
c.621T>C (p.Ser207=)
c.*340T>C (n.*340T>C)
c.64-1065A>G (n.64-1065A>G)
c.319-1065A>G (n.319-1065A>G)
c.501T>C (p.Ser167=)
c.846T>C (p.Ser282=)
c.*149A>G (n.*149A>G)
n.773A>G
11g.72108670T>GCA381724251ANAPC15,LRRC51,LRTOMT,TOMTc.522T>G (p.Ser174Arg)
c.*32T>G (n.*32T>G)
c.621T>G (p.Ser207Arg)
c.*340T>G (n.*340T>G)
c.64-1065A>C (n.64-1065A>C)
c.319-1065A>C (n.319-1065A>C)
c.501T>G (p.Ser167Arg)
c.846T>G (p.Ser282Arg)
c.*149A>C (n.*149A>C)
n.773A>C
11g.72108671C>ACA475592519ANAPC15,LRRC51,LRTOMT,TOMTc.523C>A (p.Arg175=)
c.*33C>A (n.*33C>A)
c.622C>A (p.Arg208=)
c.*341C>A (n.*341C>A)
c.64-1066G>T (n.64-1066G>T)
c.319-1066G>T (n.319-1066G>T)
c.502C>A (p.Arg168=)
c.847C>A (p.Arg283=)
c.*148G>T (n.*148G>T)
n.772G>T
gnomAD v4
11g.72108671C=CA1981841043ANAPC15,LRRC51,LRTOMT,TOMTc.523C= (p.Arg175=)
c.*33C= (n.*33C=)
c.622C= (p.Arg208=)
c.*341C= (n.*341C=)
c.64-1066G= (n.64-1066G=)
c.319-1066G= (n.319-1066G=)
c.502C= (p.Arg168=)
c.847C= (p.Arg283=)
c.*148G= (n.*148G=)
n.772G=
11g.72108671C>GCA381724266ANAPC15,LRRC51,LRTOMT,TOMTc.523C>G (p.Arg175Gly)
c.*33C>G (n.*33C>G)
c.622C>G (p.Arg208Gly)
c.*341C>G (n.*341C>G)
c.64-1066G>C (n.64-1066G>C)
c.319-1066G>C (n.319-1066G>C)
c.502C>G (p.Arg168Gly)
c.847C>G (p.Arg283Gly)
c.*148G>C (n.*148G>C)
n.772G>C
11g.72108671C>TCA224375581ANAPC15,LRRC51,LRTOMT,TOMTc.523C>T (p.Arg175Trp)
c.*33C>T (n.*33C>T)
c.622C>T (p.Arg208Trp)
c.*341C>T (n.*341C>T)
c.64-1066G>A (n.64-1066G>A)
c.319-1066G>A (n.319-1066G>A)
c.502C>T (p.Arg168Trp)
c.847C>T (p.Arg283Trp)
c.*148G>A (n.*148G>A)
n.772G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.72108672G>ACA133446ANAPC15,LRRC51,LRTOMT,TOMTc.524G>A (p.Arg175Gln)
c.*34G>A (n.*34G>A)
c.623G>A (p.Arg208Gln)
c.*342G>A (n.*342G>A)
c.64-1067C>T (n.64-1067C>T)
c.319-1067C>T (n.319-1067C>T)
c.503G>A (p.Arg168Gln)
c.848G>A (p.Arg283Gln)
c.*147C>T (n.*147C>T)
n.771C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72108672G>CCA381724275ANAPC15,LRRC51,LRTOMT,TOMTc.524G>C (p.Arg175Pro)
c.*34G>C (n.*34G>C)
c.623G>C (p.Arg208Pro)
c.*342G>C (n.*342G>C)
c.64-1067C>G (n.64-1067C>G)
c.319-1067C>G (n.319-1067C>G)
c.503G>C (p.Arg168Pro)
c.848G>C (p.Arg283Pro)
c.*147C>G (n.*147C>G)
n.771C>G
11g.72108672G=CA1981841044ANAPC15,LRRC51,LRTOMT,TOMTc.524G= (p.Arg175=)
c.*34G= (n.*34G=)
c.623G= (p.Arg208=)
c.*342G= (n.*342G=)
c.64-1067C= (n.64-1067C=)
c.319-1067C= (n.319-1067C=)
c.503G= (p.Arg168=)
c.848G= (p.Arg283=)
c.*147C= (n.*147C=)
n.771C=
11g.72108672G>TCA224375588ANAPC15,LRRC51,LRTOMT,TOMTc.524G>T (p.Arg175Leu)
c.*34G>T (n.*34G>T)
c.623G>T (p.Arg208Leu)
c.*342G>T (n.*342G>T)
c.64-1067C>A (n.64-1067C>A)
c.319-1067C>A (n.319-1067C>A)
c.503G>T (p.Arg168Leu)
c.848G>T (p.Arg283Leu)
c.*147C>A (n.*147C>A)
n.771C>A
dbSNP gnomAD v3 gnomAD v4
11g.72108673G>ACA475592523ANAPC15,LRRC51,LRTOMT,TOMTc.525G>A (p.Arg175=)
c.*35G>A (n.*35G>A)
c.624G>A (p.Arg208=)
c.*343G>A (n.*343G>A)
c.64-1068C>T (n.64-1068C>T)
c.319-1068C>T (n.319-1068C>T)
c.504G>A (p.Arg168=)
c.849G>A (p.Arg283=)
c.*146C>T (n.*146C>T)
n.770C>T
11g.72108673G>CCA475592524ANAPC15,LRRC51,LRTOMT,TOMTc.525G>C (p.Arg175=)
c.*35G>C (n.*35G>C)
c.624G>C (p.Arg208=)
c.*343G>C (n.*343G>C)
c.64-1068C>G (n.64-1068C>G)
c.319-1068C>G (n.319-1068C>G)
c.504G>C (p.Arg168=)
c.849G>C (p.Arg283=)
c.*146C>G (n.*146C>G)
n.770C>G
11g.72108673G>TCA475592525ANAPC15,LRRC51,LRTOMT,TOMTc.525G>T (p.Arg175=)
c.*35G>T (n.*35G>T)
c.624G>T (p.Arg208=)
c.*343G>T (n.*343G>T)
c.64-1068C>A (n.64-1068C>A)
c.319-1068C>A (n.319-1068C>A)
c.504G>T (p.Arg168=)
c.849G>T (p.Arg283=)
c.*146C>A (n.*146C>A)
n.770C>A
gnomAD v4
11g.72108674G>ACA381724287ANAPC15,LRRC51,LRTOMT,TOMTc.526G>A (p.Ala176Thr)
c.*36G>A (n.*36G>A)
c.625G>A (p.Ala209Thr)
c.*344G>A (n.*344G>A)
c.64-1069C>T (n.64-1069C>T)
c.319-1069C>T (n.319-1069C>T)
c.505G>A (p.Ala169Thr)
c.850G>A (p.Ala284Thr)
c.*145C>T (n.*145C>T)
n.769C>T
gnomAD v4
11g.72108674G>CCA381724291ANAPC15,LRRC51,LRTOMT,TOMTc.526G>C (p.Ala176Pro)
c.*36G>C (n.*36G>C)
c.625G>C (p.Ala209Pro)
c.*344G>C (n.*344G>C)
c.64-1069C>G (n.64-1069C>G)
c.319-1069C>G (n.319-1069C>G)
c.505G>C (p.Ala169Pro)
c.850G>C (p.Ala284Pro)
c.*145C>G (n.*145C>G)
n.769C>G
11g.72108674G>TCA381724296ANAPC15,LRRC51,LRTOMT,TOMTc.526G>T (p.Ala176Ser)
c.*36G>T (n.*36G>T)
c.625G>T (p.Ala209Ser)
c.*344G>T (n.*344G>T)
c.64-1069C>A (n.64-1069C>A)
c.319-1069C>A (n.319-1069C>A)
c.505G>T (p.Ala169Ser)
c.850G>T (p.Ala284Ser)
c.*145C>A (n.*145C>A)
n.769C>A
gnomAD v4
11g.72108675C>ACA381724302ANAPC15,LRRC51,LRTOMT,TOMTc.527C>A (p.Ala176Glu)
c.*37C>A (n.*37C>A)
c.626C>A (p.Ala209Glu)
c.*345C>A (n.*345C>A)
c.64-1070G>T (n.64-1070G>T)
c.319-1070G>T (n.319-1070G>T)
c.506C>A (p.Ala169Glu)
c.851C>A (p.Ala284Glu)
c.*144G>T (n.*144G>T)
n.768G>T
gnomAD v4
11g.72108675C>GCA381724298ANAPC15,LRRC51,LRTOMT,TOMTc.527C>G (p.Ala176Gly)
c.*37C>G (n.*37C>G)
c.626C>G (p.Ala209Gly)
c.*345C>G (n.*345C>G)
c.64-1070G>C (n.64-1070G>C)
c.319-1070G>C (n.319-1070G>C)
c.506C>G (p.Ala169Gly)
c.851C>G (p.Ala284Gly)
c.*144G>C (n.*144G>C)
n.768G>C
gnomAD v4
11g.72108675C>TCA381724297ANAPC15,LRRC51,LRTOMT,TOMTc.527C>T (p.Ala176Val)
c.*37C>T (n.*37C>T)
c.626C>T (p.Ala209Val)
c.*345C>T (n.*345C>T)
c.64-1070G>A (n.64-1070G>A)
c.319-1070G>A (n.319-1070G>A)
c.506C>T (p.Ala169Val)
c.851C>T (p.Ala284Val)
c.*144G>A (n.*144G>A)
n.768G>A
11g.72108676A>CCA475592527ANAPC15,LRRC51,LRTOMT,TOMTc.528A>C (p.Ala176=)
c.*38A>C (n.*38A>C)
c.627A>C (p.Ala209=)
c.*346A>C (n.*346A>C)
c.64-1071T>G (n.64-1071T>G)
c.319-1071T>G (n.319-1071T>G)
c.507A>C (p.Ala169=)
c.852A>C (p.Ala284=)
c.*143T>G (n.*143T>G)
n.767T>G
11g.72108676A>GCA475592528ANAPC15,LRRC51,LRTOMT,TOMTc.528A>G (p.Ala176=)
c.*38A>G (n.*38A>G)
c.627A>G (p.Ala209=)
c.*346A>G (n.*346A>G)
c.64-1071T>C (n.64-1071T>C)
c.319-1071T>C (n.319-1071T>C)
c.507A>G (p.Ala169=)
c.852A>G (p.Ala284=)
c.*143T>C (n.*143T>C)
n.767T>C
11g.72108676A>TCA475592529ANAPC15,LRRC51,LRTOMT,TOMTc.528A>T (p.Ala176=)
c.*38A>T (n.*38A>T)
c.627A>T (p.Ala209=)
c.*346A>T (n.*346A>T)
c.64-1071T>A (n.64-1071T>A)
c.319-1071T>A (n.319-1071T>A)
c.507A>T (p.Ala169=)
c.852A>T (p.Ala284=)
c.*143T>A (n.*143T>A)
n.767T>A
11g.72108677G>ACA381724303ANAPC15,LRRC51,LRTOMT,TOMTc.529G>A (p.Asp177Asn)
c.*39G>A (n.*39G>A)
c.628G>A (p.Asp210Asn)
c.*347G>A (n.*347G>A)
c.64-1072C>T (n.64-1072C>T)
c.319-1072C>T (n.319-1072C>T)
c.508G>A (p.Asp170Asn)
c.853G>A (p.Asp285Asn)
c.*142C>T (n.*142C>T)
n.766C>T
11g.72108677G>CCA381724305ANAPC15,LRRC51,LRTOMT,TOMTc.529G>C (p.Asp177His)
c.*39G>C (n.*39G>C)
c.628G>C (p.Asp210His)
c.*347G>C (n.*347G>C)
c.64-1072C>G (n.64-1072C>G)
c.319-1072C>G (n.319-1072C>G)
c.508G>C (p.Asp170His)
c.853G>C (p.Asp285His)
c.*142C>G (n.*142C>G)
n.766C>G
11g.72108677G>TCA381724308ANAPC15,LRRC51,LRTOMT,TOMTc.529G>T (p.Asp177Tyr)
c.*39G>T (n.*39G>T)
c.628G>T (p.Asp210Tyr)
c.*347G>T (n.*347G>T)
c.64-1072C>A (n.64-1072C>A)
c.319-1072C>A (n.319-1072C>A)
c.508G>T (p.Asp170Tyr)
c.853G>T (p.Asp285Tyr)
c.*142C>A (n.*142C>A)
n.766C>A
gnomAD v4
11g.72108678A=CA1981841045ANAPC15,LRRC51,LRTOMT,TOMTc.530A= (p.Asp177=)
c.*40A= (n.*40A=)
c.629A= (p.Asp210=)
c.*348A= (n.*348A=)
c.64-1073T= (n.64-1073T=)
c.319-1073T= (n.319-1073T=)
c.509A= (p.Asp170=)
c.854A= (p.Asp285=)
c.*141T= (n.*141T=)
n.765T=
11g.72108678A>CCA381724320ANAPC15,LRRC51,LRTOMT,TOMTc.530A>C (p.Asp177Ala)
c.*40A>C (n.*40A>C)
c.629A>C (p.Asp210Ala)
c.*348A>C (n.*348A>C)
c.64-1073T>G (n.64-1073T>G)
c.319-1073T>G (n.319-1073T>G)
c.509A>C (p.Asp170Ala)
c.854A>C (p.Asp285Ala)
c.*141T>G (n.*141T>G)
n.765T>G
dbSNP
11g.72108678A>GCA381724325ANAPC15,LRRC51,LRTOMT,TOMTc.530A>G (p.Asp177Gly)
c.*40A>G (n.*40A>G)
c.629A>G (p.Asp210Gly)
c.*348A>G (n.*348A>G)
c.64-1073T>C (n.64-1073T>C)
c.319-1073T>C (n.319-1073T>C)
c.509A>G (p.Asp170Gly)
c.854A>G (p.Asp285Gly)
c.*141T>C (n.*141T>C)
n.765T>C
11g.72108678A>TCA381724328ANAPC15,LRRC51,LRTOMT,TOMTc.530A>T (p.Asp177Val)
c.*40A>T (n.*40A>T)
c.629A>T (p.Asp210Val)
c.*348A>T (n.*348A>T)
c.64-1073T>A (n.64-1073T>A)
c.319-1073T>A (n.319-1073T>A)
c.509A>T (p.Asp170Val)
c.854A>T (p.Asp285Val)
c.*141T>A (n.*141T>A)
n.765T>A
11g.72108679C>ACA381724333ANAPC15,LRRC51,LRTOMT,TOMTc.531C>A (p.Asp177Glu)
c.*41C>A (n.*41C>A)
c.630C>A (p.Asp210Glu)
c.*349C>A (n.*349C>A)
c.64-1074G>T (n.64-1074G>T)
c.319-1074G>T (n.319-1074G>T)
c.510C>A (p.Asp170Glu)
c.855C>A (p.Asp285Glu)
c.*140G>T (n.*140G>T)
n.764G>T
ClinVar dbSNP gnomAD v4
11g.72108679C=CA1981841046ANAPC15,LRRC51,LRTOMT,TOMTc.531C= (p.Asp177=)
c.*41C= (n.*41C=)
c.630C= (p.Asp210=)
c.*349C= (n.*349C=)
c.64-1074G= (n.64-1074G=)
c.319-1074G= (n.319-1074G=)
c.510C= (p.Asp170=)
c.855C= (p.Asp285=)
c.*140G= (n.*140G=)
n.764G=
11g.72108679C>GCA381724337ANAPC15,LRRC51,LRTOMT,TOMTc.531C>G (p.Asp177Glu)
c.*41C>G (n.*41C>G)
c.630C>G (p.Asp210Glu)
c.*349C>G (n.*349C>G)
c.64-1074G>C (n.64-1074G>C)
c.319-1074G>C (n.319-1074G>C)
c.510C>G (p.Asp170Glu)
c.855C>G (p.Asp285Glu)
c.*140G>C (n.*140G>C)
n.764G>C
dbSNP gnomAD v4
11g.72108679C>TCA475592533ANAPC15,LRRC51,LRTOMT,TOMTc.531C>T (p.Asp177=)
c.*41C>T (n.*41C>T)
c.630C>T (p.Asp210=)
c.*349C>T (n.*349C>T)
c.64-1074G>A (n.64-1074G>A)
c.319-1074G>A (n.319-1074G>A)
c.510C>T (p.Asp170=)
c.855C>T (p.Asp285=)
c.*140G>A (n.*140G>A)
n.764G>A
gnomAD v4
11g.72108680C>ACA381724341ANAPC15,LRRC51,LRTOMT,TOMTc.532C>A (p.Leu178Met)
c.*42C>A (n.*42C>A)
c.631C>A (p.Leu211Met)
c.*350C>A (n.*350C>A)
c.64-1075G>T (n.64-1075G>T)
c.319-1075G>T (n.319-1075G>T)
c.511C>A (p.Leu171Met)
c.856C>A (p.Leu286Met)
c.*139G>T (n.*139G>T)
n.763G>T
COSMIC
11g.72108680C=CA1981841047ANAPC15,LRRC51,LRTOMT,TOMTc.532C= (p.Leu178=)
c.*42C= (n.*42C=)
c.631C= (p.Leu211=)
c.*350C= (n.*350C=)
c.64-1075G= (n.64-1075G=)
c.319-1075G= (n.319-1075G=)
c.511C= (p.Leu171=)
c.856C= (p.Leu286=)
c.*139G= (n.*139G=)
n.763G=
11g.72108680C>GCA381724348ANAPC15,LRRC51,LRTOMT,TOMTc.532C>G (p.Leu178Val)
c.*42C>G (n.*42C>G)
c.631C>G (p.Leu211Val)
c.*350C>G (n.*350C>G)
c.64-1075G>C (n.64-1075G>C)
c.319-1075G>C (n.319-1075G>C)
c.511C>G (p.Leu171Val)
c.856C>G (p.Leu286Val)
c.*139G>C (n.*139G>C)
n.763G>C
11g.72108680C>TCA475592534ANAPC15,LRRC51,LRTOMT,TOMTc.532C>T (p.Leu178=)
c.*42C>T (n.*42C>T)
c.631C>T (p.Leu211=)
c.*350C>T (n.*350C>T)
c.64-1075G>A (n.64-1075G>A)
c.319-1075G>A (n.319-1075G>A)
c.511C>T (p.Leu171=)
c.856C>T (p.Leu286=)
c.*139G>A (n.*139G>A)
n.763G>A
dbSNP gnomAD v2 gnomAD v4
11g.72108681T>ACA381724354ANAPC15,LRRC51,LRTOMT,TOMTc.533T>A (p.Leu178Gln)
c.*43T>A (n.*43T>A)
c.632T>A (p.Leu211Gln)
c.*351T>A (n.*351T>A)
c.64-1076A>T (n.64-1076A>T)
c.319-1076A>T (n.319-1076A>T)
c.512T>A (p.Leu171Gln)
c.857T>A (p.Leu286Gln)
c.*138A>T (n.*138A>T)
n.762A>T
11g.72108681T>CCA381724356ANAPC15,LRRC51,LRTOMT,TOMTc.533T>C (p.Leu178Pro)
c.*43T>C (n.*43T>C)
c.632T>C (p.Leu211Pro)
c.*351T>C (n.*351T>C)
c.64-1076A>G (n.64-1076A>G)
c.319-1076A>G (n.319-1076A>G)
c.512T>C (p.Leu171Pro)
c.857T>C (p.Leu286Pro)
c.*138A>G (n.*138A>G)
n.762A>G
11g.72108681T>GCA381724357ANAPC15,LRRC51,LRTOMT,TOMTc.533T>G (p.Leu178Arg)
c.*43T>G (n.*43T>G)
c.632T>G (p.Leu211Arg)
c.*351T>G (n.*351T>G)
c.64-1076A>C (n.64-1076A>C)
c.319-1076A>C (n.319-1076A>C)
c.512T>G (p.Leu171Arg)
c.857T>G (p.Leu286Arg)
c.*138A>C (n.*138A>C)
n.762A>C
11g.72108682G>ACA475592536ANAPC15,LRRC51,LRTOMT,TOMTc.534G>A (p.Leu178=)
c.*44G>A (n.*44G>A)
c.633G>A (p.Leu211=)
c.*352G>A (n.*352G>A)
c.64-1077C>T (n.64-1077C>T)
c.319-1077C>T (n.319-1077C>T)
c.513G>A (p.Leu171=)
c.858G>A (p.Leu286=)
c.*137C>T (n.*137C>T)
n.761C>T
dbSNP gnomAD v2 gnomAD v4
11g.72108682G>CCA475592537ANAPC15,LRRC51,LRTOMT,TOMTc.534G>C (p.Leu178=)
c.*44G>C (n.*44G>C)
c.633G>C (p.Leu211=)
c.*352G>C (n.*352G>C)
c.64-1077C>G (n.64-1077C>G)
c.319-1077C>G (n.319-1077C>G)
c.513G>C (p.Leu171=)
c.858G>C (p.Leu286=)
c.*137C>G (n.*137C>G)
n.761C>G
11g.72108682G=CA1981841048ANAPC15,LRRC51,LRTOMT,TOMTc.534G= (p.Leu178=)
c.*44G= (n.*44G=)
c.633G= (p.Leu211=)
c.*352G= (n.*352G=)
c.64-1077C= (n.64-1077C=)
c.319-1077C= (n.319-1077C=)
c.513G= (p.Leu171=)
c.858G= (p.Leu286=)
c.*137C= (n.*137C=)
n.761C=
11g.72108682G>TCA475592538ANAPC15,LRRC51,LRTOMT,TOMTc.534G>T (p.Leu178=)
c.*44G>T (n.*44G>T)
c.633G>T (p.Leu211=)
c.*352G>T (n.*352G>T)
c.64-1077C>A (n.64-1077C>A)
c.319-1077C>A (n.319-1077C>A)
c.513G>T (p.Leu171=)
c.858G>T (p.Leu286=)
c.*137C>A (n.*137C>A)
n.761C>A
gnomAD v4
11g.72108683G>ACA381724365ANAPC15,LRRC51,LRTOMT,TOMTc.535G>A (p.Val179Met)
c.*45G>A (n.*45G>A)
c.634G>A (p.Val212Met)
c.*353G>A (n.*353G>A)
c.64-1078C>T (n.64-1078C>T)
c.319-1078C>T (n.319-1078C>T)
c.514G>A (p.Val172Met)
c.859G>A (p.Val287Met)
c.*136C>T (n.*136C>T)
n.760C>T
11g.72108683G>CCA381724366ANAPC15,LRRC51,LRTOMT,TOMTc.535G>C (p.Val179Leu)
c.*45G>C (n.*45G>C)
c.634G>C (p.Val212Leu)
c.*353G>C (n.*353G>C)
c.64-1078C>G (n.64-1078C>G)
c.319-1078C>G (n.319-1078C>G)
c.514G>C (p.Val172Leu)
c.859G>C (p.Val287Leu)
c.*136C>G (n.*136C>G)
n.760C>G
11g.72108683G>TCA381724364ANAPC15,LRRC51,LRTOMT,TOMTc.535G>T (p.Val179Leu)
c.*45G>T (n.*45G>T)
c.634G>T (p.Val212Leu)
c.*353G>T (n.*353G>T)
c.64-1078C>A (n.64-1078C>A)
c.319-1078C>A (n.319-1078C>A)
c.514G>T (p.Val172Leu)
c.859G>T (p.Val287Leu)
c.*136C>A (n.*136C>A)
n.760C>A
gnomAD v4
11g.72108684T>ACA381724369ANAPC15,LRRC51,LRTOMT,TOMTc.536T>A (p.Val179Glu)
c.*46T>A (n.*46T>A)
c.635T>A (p.Val212Glu)
c.*354T>A (n.*354T>A)
c.64-1079A>T (n.64-1079A>T)
c.319-1079A>T (n.319-1079A>T)
c.515T>A (p.Val172Glu)
c.860T>A (p.Val287Glu)
c.*135A>T (n.*135A>T)
n.759A>T
11g.72108684T>CCA381724375ANAPC15,LRRC51,LRTOMT,TOMTc.536T>C (p.Val179Ala)
c.*46T>C (n.*46T>C)
c.635T>C (p.Val212Ala)
c.*354T>C (n.*354T>C)
c.64-1079A>G (n.64-1079A>G)
c.319-1079A>G (n.319-1079A>G)
c.515T>C (p.Val172Ala)
c.860T>C (p.Val287Ala)
c.*135A>G (n.*135A>G)
n.759A>G
11g.72108684T>GCA381724379ANAPC15,LRRC51,LRTOMT,TOMTc.536T>G (p.Val179Gly)
c.*46T>G (n.*46T>G)
c.635T>G (p.Val212Gly)
c.*354T>G (n.*354T>G)
c.64-1079A>C (n.64-1079A>C)
c.319-1079A>C (n.319-1079A>C)
c.515T>G (p.Val172Gly)
c.860T>G (p.Val287Gly)
c.*135A>C (n.*135A>C)
n.759A>C
11g.72108685G>ACA475592542ANAPC15,LRRC51,LRTOMT,TOMTc.537G>A (p.Val179=)
c.*47G>A (n.*47G>A)
c.636G>A (p.Val212=)
c.*355G>A (n.*355G>A)
c.64-1080C>T (n.64-1080C>T)
c.319-1080C>T (n.319-1080C>T)
c.516G>A (p.Val172=)
c.861G>A (p.Val287=)
c.*134C>T (n.*134C>T)
n.758C>T
dbSNP
11g.72108685G>CCA475592543ANAPC15,LRRC51,LRTOMT,TOMTc.537G>C (p.Val179=)
c.*47G>C (n.*47G>C)
c.636G>C (p.Val212=)
c.*355G>C (n.*355G>C)
c.64-1080C>G (n.64-1080C>G)
c.319-1080C>G (n.319-1080C>G)
c.516G>C (p.Val172=)
c.861G>C (p.Val287=)
c.*134C>G (n.*134C>G)
n.758C>G
11g.72108685G=CA1981841049ANAPC15,LRRC51,LRTOMT,TOMTc.537G= (p.Val179=)
c.*47G= (n.*47G=)
c.636G= (p.Val212=)
c.*355G= (n.*355G=)
c.64-1080C= (n.64-1080C=)
c.319-1080C= (n.319-1080C=)
c.516G= (p.Val172=)
c.861G= (p.Val287=)
c.*134C= (n.*134C=)
n.758C=
11g.72108685G>TCA475592545ANAPC15,LRRC51,LRTOMT,TOMTc.537G>T (p.Val179=)
c.*47G>T (n.*47G>T)
c.636G>T (p.Val212=)
c.*355G>T (n.*355G>T)
c.64-1080C>A (n.64-1080C>A)
c.319-1080C>A (n.319-1080C>A)
c.516G>T (p.Val172=)
c.861G>T (p.Val287=)
c.*134C>A (n.*134C>A)
n.758C>A
gnomAD v4
11g.72108686C>ACA381724388ANAPC15,LRRC51,LRTOMT,TOMTc.538C>A (p.Leu180Ile)
c.*48C>A (n.*48C>A)
c.637C>A (p.Leu213Ile)
c.*356C>A (n.*356C>A)
c.64-1081G>T (n.64-1081G>T)
c.319-1081G>T (n.319-1081G>T)
c.517C>A (p.Leu173Ile)
c.862C>A (p.Leu288Ile)
c.*133G>T (n.*133G>T)
n.757G>T
11g.72108686C>GCA381724391ANAPC15,LRRC51,LRTOMT,TOMTc.538C>G (p.Leu180Val)
c.*48C>G (n.*48C>G)
c.637C>G (p.Leu213Val)
c.*356C>G (n.*356C>G)
c.64-1081G>C (n.64-1081G>C)
c.319-1081G>C (n.319-1081G>C)
c.517C>G (p.Leu173Val)
c.862C>G (p.Leu288Val)
c.*133G>C (n.*133G>C)
n.757G>C
11g.72108686C>TCA381724397ANAPC15,LRRC51,LRTOMT,TOMTc.538C>T (p.Leu180Phe)
c.*48C>T (n.*48C>T)
c.637C>T (p.Leu213Phe)
c.*356C>T (n.*356C>T)
c.64-1081G>A (n.64-1081G>A)
c.319-1081G>A (n.319-1081G>A)
c.517C>T (p.Leu173Phe)
c.862C>T (p.Leu288Phe)
c.*133G>A (n.*133G>A)
n.757G>A
gnomAD v4
11g.72108687_72108688delCA2614921665ANAPC15,LRRC51,LRTOMT,TOMTc.539_540del (p.Leu180ProfsTer30)
c.*49_*50del (n.*49_*50del)
c.638_639del (p.Leu213ProfsTer30)
c.*357_*358del (n.*357_*358del)
c.64-1082_64-1081del (n.64-1082_64-1081del)
c.319-1082_319-1081del (n.319-1082_319-1081del)
c.518_519del (p.Leu173ProfsTer30)
c.863_864del (p.Leu288ProfsTer30)
c.*132_*133del (n.*132_*133del)
n.756_757del
gnomAD v4
11g.72108687T>ACA381724400ANAPC15,LRRC51,LRTOMT,TOMTc.539T>A (p.Leu180His)
c.*49T>A (n.*49T>A)
c.638T>A (p.Leu213His)
c.*357T>A (n.*357T>A)
c.64-1082A>T (n.64-1082A>T)
c.319-1082A>T (n.319-1082A>T)
c.518T>A (p.Leu173His)
c.863T>A (p.Leu288His)
c.*132A>T (n.*132A>T)
n.756A>T
11g.72108687T>CCA381724404ANAPC15,LRRC51,LRTOMT,TOMTc.539T>C (p.Leu180Pro)
c.*49T>C (n.*49T>C)
c.638T>C (p.Leu213Pro)
c.*357T>C (n.*357T>C)
c.64-1082A>G (n.64-1082A>G)
c.319-1082A>G (n.319-1082A>G)
c.518T>C (p.Leu173Pro)
c.863T>C (p.Leu288Pro)
c.*132A>G (n.*132A>G)
n.756A>G
11g.72108687T>GCA381724405ANAPC15,LRRC51,LRTOMT,TOMTc.539T>G (p.Leu180Arg)
c.*49T>G (n.*49T>G)
c.638T>G (p.Leu213Arg)
c.*357T>G (n.*357T>G)
c.64-1082A>C (n.64-1082A>C)
c.319-1082A>C (n.319-1082A>C)
c.518T>G (p.Leu173Arg)
c.863T>G (p.Leu288Arg)
c.*132A>C (n.*132A>C)
n.756A>C
11g.72108688C>ACA475592549ANAPC15,LRRC51,LRTOMT,TOMTc.540C>A (p.Leu180=)
c.*50C>A (n.*50C>A)
c.639C>A (p.Leu213=)
c.*358C>A (n.*358C>A)
c.64-1083G>T (n.64-1083G>T)
c.319-1083G>T (n.319-1083G>T)
c.519C>A (p.Leu173=)
c.864C>A (p.Leu288=)
c.*131G>T (n.*131G>T)
n.755G>T
11g.72108688C>GCA475592550ANAPC15,LRRC51,LRTOMT,TOMTc.540C>G (p.Leu180=)
c.*50C>G (n.*50C>G)
c.639C>G (p.Leu213=)
c.*358C>G (n.*358C>G)
c.64-1083G>C (n.64-1083G>C)
c.319-1083G>C (n.319-1083G>C)
c.519C>G (p.Leu173=)
c.864C>G (p.Leu288=)
c.*131G>C (n.*131G>C)
n.755G>C
11g.72108688C>TCA475592551ANAPC15,LRRC51,LRTOMT,TOMTc.540C>T (p.Leu180=)
c.*50C>T (n.*50C>T)
c.639C>T (p.Leu213=)
c.*358C>T (n.*358C>T)
c.64-1083G>A (n.64-1083G>A)
c.319-1083G>A (n.319-1083G>A)
c.519C>T (p.Leu173=)
c.864C>T (p.Leu288=)
c.*131G>A (n.*131G>A)
n.755G>A
11g.72108689C>ACA381724408ANAPC15,LRRC51,LRTOMT,TOMTc.541C>A (p.Leu181Met)
c.*51C>A (n.*51C>A)
c.640C>A (p.Leu214Met)
c.*359C>A (n.*359C>A)
c.64-1084G>T (n.64-1084G>T)
c.319-1084G>T (n.319-1084G>T)
c.520C>A (p.Leu174Met)
c.865C>A (p.Leu289Met)
c.*130G>T (n.*130G>T)
n.754G>T
11g.72108689C=CA1981841050ANAPC15,LRRC51,LRTOMT,TOMTc.541C= (p.Leu181=)
c.*51C= (n.*51C=)
c.640C= (p.Leu214=)
c.*359C= (n.*359C=)
c.64-1084G= (n.64-1084G=)
c.319-1084G= (n.319-1084G=)
c.520C= (p.Leu174=)
c.865C= (p.Leu289=)
c.*130G= (n.*130G=)
n.754G=
11g.72108689C>GCA381724411ANAPC15,LRRC51,LRTOMT,TOMTc.541C>G (p.Leu181Val)
c.*51C>G (n.*51C>G)
c.640C>G (p.Leu214Val)
c.*359C>G (n.*359C>G)
c.64-1084G>C (n.64-1084G>C)
c.319-1084G>C (n.319-1084G>C)
c.520C>G (p.Leu174Val)
c.865C>G (p.Leu289Val)
c.*130G>C (n.*130G>C)
n.754G>C
11g.72108689C>TCA6168634ANAPC15,LRRC51,LRTOMT,TOMTc.541C>T (p.Leu181=)
c.*51C>T (n.*51C>T)
c.640C>T (p.Leu214=)
c.*359C>T (n.*359C>T)
c.64-1084G>A (n.64-1084G>A)
c.319-1084G>A (n.319-1084G>A)
c.520C>T (p.Leu174=)
c.865C>T (p.Leu289=)
c.*130G>A (n.*130G>A)
n.754G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72108690T>ACA381724452ANAPC15,LRRC51,LRTOMT,TOMTc.542T>A (p.Leu181Gln)
c.*52T>A (n.*52T>A)
c.641T>A (p.Leu214Gln)
c.*360T>A (n.*360T>A)
c.64-1085A>T (n.64-1085A>T)
c.319-1085A>T (n.319-1085A>T)
c.521T>A (p.Leu174Gln)
c.866T>A (p.Leu289Gln)
c.*129A>T (n.*129A>T)
n.753A>T
11g.72108690T>CCA381724441ANAPC15,LRRC51,LRTOMT,TOMTc.542T>C (p.Leu181Pro)
c.*52T>C (n.*52T>C)
c.641T>C (p.Leu214Pro)
c.*360T>C (n.*360T>C)
c.64-1085A>G (n.64-1085A>G)
c.319-1085A>G (n.319-1085A>G)
c.521T>C (p.Leu174Pro)
c.866T>C (p.Leu289Pro)
c.*129A>G (n.*129A>G)
n.753A>G
COSMIC
11g.72108690T>GCA381724446ANAPC15,LRRC51,LRTOMT,TOMTc.542T>G (p.Leu181Arg)
c.*52T>G (n.*52T>G)
c.641T>G (p.Leu214Arg)
c.*360T>G (n.*360T>G)
c.64-1085A>C (n.64-1085A>C)
c.319-1085A>C (n.319-1085A>C)
c.521T>G (p.Leu174Arg)
c.866T>G (p.Leu289Arg)
c.*129A>C (n.*129A>C)
n.753A>C
11g.72108691G>ACA475592554ANAPC15,LRRC51,LRTOMT,TOMTc.543G>A (p.Leu181=)
c.*53G>A (n.*53G>A)
c.642G>A (p.Leu214=)
c.*361G>A (n.*361G>A)
c.64-1086C>T (n.64-1086C>T)
c.319-1086C>T (n.319-1086C>T)
c.522G>A (p.Leu174=)
c.867G>A (p.Leu289=)
c.*128C>T (n.*128C>T)
n.752C>T
11g.72108691G>CCA475592553ANAPC15,LRRC51,LRTOMT,TOMTc.543G>C (p.Leu181=)
c.*53G>C (n.*53G>C)
c.642G>C (p.Leu214=)
c.*361G>C (n.*361G>C)
c.64-1086C>G (n.64-1086C>G)
c.319-1086C>G (n.319-1086C>G)
c.522G>C (p.Leu174=)
c.867G>C (p.Leu289=)
c.*128C>G (n.*128C>G)
n.752C>G
11g.72108691G>TCA475592552ANAPC15,LRRC51,LRTOMT,TOMTc.543G>T (p.Leu181=)
c.*53G>T (n.*53G>T)
c.642G>T (p.Leu214=)
c.*361G>T (n.*361G>T)
c.64-1086C>A (n.64-1086C>A)
c.319-1086C>A (n.319-1086C>A)
c.522G>T (p.Leu174=)
c.867G>T (p.Leu289=)
c.*128C>A (n.*128C>A)
n.752C>A
11g.72108692G>ACA381724457ANAPC15,LRRC51,LRTOMT,TOMTc.544G>A (p.Ala182Thr)
c.*54G>A (n.*54G>A)
c.643G>A (p.Ala215Thr)
c.*362G>A (n.*362G>A)
c.64-1087C>T (n.64-1087C>T)
c.319-1087C>T (n.319-1087C>T)
c.523G>A (p.Ala175Thr)
c.868G>A (p.Ala290Thr)
c.*127C>T (n.*127C>T)
n.751C>T
gnomAD v4
11g.72108692G>CCA381724460ANAPC15,LRRC51,LRTOMT,TOMTc.544G>C (p.Ala182Pro)
c.*54G>C (n.*54G>C)
c.643G>C (p.Ala215Pro)
c.*362G>C (n.*362G>C)
c.64-1087C>G (n.64-1087C>G)
c.319-1087C>G (n.319-1087C>G)
c.523G>C (p.Ala175Pro)
c.868G>C (p.Ala290Pro)
c.*127C>G (n.*127C>G)
n.751C>G
11g.72108692G>TCA381724463ANAPC15,LRRC51,LRTOMT,TOMTc.544G>T (p.Ala182Ser)
c.*54G>T (n.*54G>T)
c.643G>T (p.Ala215Ser)
c.*362G>T (n.*362G>T)
c.64-1087C>A (n.64-1087C>A)
c.319-1087C>A (n.319-1087C>A)
c.523G>T (p.Ala175Ser)
c.868G>T (p.Ala290Ser)
c.*127C>A (n.*127C>A)
n.751C>A
11g.72108693C>ACA381724473ANAPC15,LRRC51,LRTOMT,TOMTc.545C>A (p.Ala182Glu)
c.*55C>A (n.*55C>A)
c.644C>A (p.Ala215Glu)
c.*363C>A (n.*363C>A)
c.64-1088G>T (n.64-1088G>T)
c.319-1088G>T (n.319-1088G>T)
c.524C>A (p.Ala175Glu)
c.869C>A (p.Ala290Glu)
c.*126G>T (n.*126G>T)
n.750G>T
gnomAD v4
11g.72108693C>GCA381724482ANAPC15,LRRC51,LRTOMT,TOMTc.545C>G (p.Ala182Gly)
c.*55C>G (n.*55C>G)
c.644C>G (p.Ala215Gly)
c.*363C>G (n.*363C>G)
c.64-1088G>C (n.64-1088G>C)
c.319-1088G>C (n.319-1088G>C)
c.524C>G (p.Ala175Gly)
c.869C>G (p.Ala290Gly)
c.*126G>C (n.*126G>C)
n.750G>C
11g.72108693C>TCA381724490ANAPC15,LRRC51,LRTOMT,TOMTc.545C>T (p.Ala182Val)
c.*55C>T (n.*55C>T)
c.644C>T (p.Ala215Val)
c.*363C>T (n.*363C>T)
c.64-1088G>A (n.64-1088G>A)
c.319-1088G>A (n.319-1088G>A)
c.524C>T (p.Ala175Val)
c.869C>T (p.Ala290Val)
c.*126G>A (n.*126G>A)
n.750G>A
gnomAD v4
11g.72108694A=CA1981841051ANAPC15,LRRC51,LRTOMT,TOMTc.546A= (p.Ala182=)
c.*56A= (n.*56A=)
c.645A= (p.Ala215=)
c.*364A= (n.*364A=)
c.64-1089T= (n.64-1089T=)
c.319-1089T= (n.319-1089T=)
c.525A= (p.Ala175=)
c.870A= (p.Ala290=)
c.*125T= (n.*125T=)
n.749T=
11g.72108694A>CCA475592555ANAPC15,LRRC51,LRTOMT,TOMTc.546A>C (p.Ala182=)
c.*56A>C (n.*56A>C)
c.645A>C (p.Ala215=)
c.*364A>C (n.*364A>C)
c.64-1089T>G (n.64-1089T>G)
c.319-1089T>G (n.319-1089T>G)
c.525A>C (p.Ala175=)
c.870A>C (p.Ala290=)
c.*125T>G (n.*125T>G)
n.749T>G
11g.72108694A>GCA224375594ANAPC15,LRRC51,LRTOMT,TOMTc.546A>G (p.Ala182=)
c.*56A>G (n.*56A>G)
c.645A>G (p.Ala215=)
c.*364A>G (n.*364A>G)
c.64-1089T>C (n.64-1089T>C)
c.319-1089T>C (n.319-1089T>C)
c.525A>G (p.Ala175=)
c.870A>G (p.Ala290=)
c.*125T>C (n.*125T>C)
n.749T>C
dbSNP gnomAD v3 gnomAD v4
11g.72108694A>TCA475592556ANAPC15,LRRC51,LRTOMT,TOMTc.546A>T (p.Ala182=)
c.*56A>T (n.*56A>T)
c.645A>T (p.Ala215=)
c.*364A>T (n.*364A>T)
c.64-1089T>A (n.64-1089T>A)
c.319-1089T>A (n.319-1089T>A)
c.525A>T (p.Ala175=)
c.870A>T (p.Ala290=)
c.*125T>A (n.*125T>A)
n.749T>A
11g.72108695C>ACA381724491ANAPC15,LRRC51,LRTOMT,TOMTc.547C>A (p.His183Asn)
c.*57C>A (n.*57C>A)
c.646C>A (p.His216Asn)
c.*365C>A (n.*365C>A)
c.64-1090G>T (n.64-1090G>T)
c.319-1090G>T (n.319-1090G>T)
c.526C>A (p.His176Asn)
c.871C>A (p.His291Asn)
c.*124G>T (n.*124G>T)
n.748G>T
11g.72108695C>GCA381724492ANAPC15,LRRC51,LRTOMT,TOMTc.547C>G (p.His183Asp)
c.*57C>G (n.*57C>G)
c.646C>G (p.His216Asp)
c.*365C>G (n.*365C>G)
c.64-1090G>C (n.64-1090G>C)
c.319-1090G>C (n.319-1090G>C)
c.526C>G (p.His176Asp)
c.871C>G (p.His291Asp)
c.*124G>C (n.*124G>C)
n.748G>C
11g.72108695C>TCA381724495ANAPC15,LRRC51,LRTOMT,TOMTc.547C>T (p.His183Tyr)
c.*57C>T (n.*57C>T)
c.646C>T (p.His216Tyr)
c.*365C>T (n.*365C>T)
c.64-1090G>A (n.64-1090G>A)
c.319-1090G>A (n.319-1090G>A)
c.526C>T (p.His176Tyr)
c.871C>T (p.His291Tyr)
c.*124G>A (n.*124G>A)
n.748G>A
11g.72108696A=CA1981841052ANAPC15,LRRC51,LRTOMT,TOMTc.548A= (p.His183=)
c.*58A= (n.*58A=)
c.647A= (p.His216=)
c.*366A= (n.*366A=)
c.64-1091T= (n.64-1091T=)
c.319-1091T= (n.319-1091T=)
c.527A= (p.His176=)
c.872A= (p.His291=)
c.*123T= (n.*123T=)
n.747T=
11g.72108696A>CCA381724501ANAPC15,LRRC51,LRTOMT,TOMTc.548A>C (p.His183Pro)
c.*58A>C (n.*58A>C)
c.647A>C (p.His216Pro)
c.*366A>C (n.*366A>C)
c.64-1091T>G (n.64-1091T>G)
c.319-1091T>G (n.319-1091T>G)
c.527A>C (p.His176Pro)
c.872A>C (p.His291Pro)
c.*123T>G (n.*123T>G)
n.747T>G
dbSNP
11g.72108696A>GCA381724511ANAPC15,LRRC51,LRTOMT,TOMTc.548A>G (p.His183Arg)
c.*58A>G (n.*58A>G)
c.647A>G (p.His216Arg)
c.*366A>G (n.*366A>G)
c.64-1091T>C (n.64-1091T>C)
c.319-1091T>C (n.319-1091T>C)
c.527A>G (p.His176Arg)
c.872A>G (p.His291Arg)
c.*123T>C (n.*123T>C)
n.747T>C
gnomAD v4
11g.72108696A>TCA381724515ANAPC15,LRRC51,LRTOMT,TOMTc.548A>T (p.His183Leu)
c.*58A>T (n.*58A>T)
c.647A>T (p.His216Leu)
c.*366A>T (n.*366A>T)
c.64-1091T>A (n.64-1091T>A)
c.319-1091T>A (n.319-1091T>A)
c.527A>T (p.His176Leu)
c.872A>T (p.His291Leu)
c.*123T>A (n.*123T>A)
n.747T>A
11g.72108697C>ACA381724516ANAPC15,LRRC51,LRTOMT,TOMTc.549C>A (p.His183Gln)
c.*59C>A (n.*59C>A)
c.648C>A (p.His216Gln)
c.*367C>A (n.*367C>A)
c.64-1092G>T (n.64-1092G>T)
c.319-1092G>T (n.319-1092G>T)
c.528C>A (p.His176Gln)
c.873C>A (p.His291Gln)
c.*122G>T (n.*122G>T)
n.746G>T
11g.72108697C=CA1981841053ANAPC15,LRRC51,LRTOMT,TOMTc.549C= (p.His183=)
c.*59C= (n.*59C=)
c.648C= (p.His216=)
c.*367C= (n.*367C=)
c.64-1092G= (n.64-1092G=)
c.319-1092G= (n.319-1092G=)
c.528C= (p.His176=)
c.873C= (p.His291=)
c.*122G= (n.*122G=)
n.746G=
11g.72108697C>GCA381724517ANAPC15,LRRC51,LRTOMT,TOMTc.549C>G (p.His183Gln)
c.*59C>G (n.*59C>G)
c.648C>G (p.His216Gln)
c.*367C>G (n.*367C>G)
c.64-1092G>C (n.64-1092G>C)
c.319-1092G>C (n.319-1092G>C)
c.528C>G (p.His176Gln)
c.873C>G (p.His291Gln)
c.*122G>C (n.*122G>C)
n.746G>C
11g.72108697C>TCA475592557ANAPC15,LRRC51,LRTOMT,TOMTc.549C>T (p.His183=)
c.*59C>T (n.*59C>T)
c.648C>T (p.His216=)
c.*367C>T (n.*367C>T)
c.64-1092G>A (n.64-1092G>A)
c.319-1092G>A (n.319-1092G>A)
c.528C>T (p.His176=)
c.873C>T (p.His291=)
c.*122G>A (n.*122G>A)
n.746G>A
dbSNP gnomAD v2 gnomAD v4
11g.72108698C>ACA475592558ANAPC15,LRRC51,LRTOMT,TOMTc.550C>A (p.Arg184=)
c.*60C>A (n.*60C>A)
c.649C>A (p.Arg217=)
c.*368C>A (n.*368C>A)
c.64-1093G>T (n.64-1093G>T)
c.319-1093G>T (n.319-1093G>T)
c.529C>A (p.Arg177=)
c.874C>A (p.Arg292=)
c.*121G>T (n.*121G>T)
n.745G>T
11g.72108698C=CA1981841054ANAPC15,LRRC51,LRTOMT,TOMTc.550C= (p.Arg184=)
c.*60C= (n.*60C=)
c.649C= (p.Arg217=)
c.*368C= (n.*368C=)
c.64-1093G= (n.64-1093G=)
c.319-1093G= (n.319-1093G=)
c.529C= (p.Arg177=)
c.874C= (p.Arg292=)
c.*121G= (n.*121G=)
n.745G=
11g.72108698C>GCA381724519ANAPC15,LRRC51,LRTOMT,TOMTc.550C>G (p.Arg184Gly)
c.*60C>G (n.*60C>G)
c.649C>G (p.Arg217Gly)
c.*368C>G (n.*368C>G)
c.64-1093G>C (n.64-1093G>C)
c.319-1093G>C (n.319-1093G>C)
c.529C>G (p.Arg177Gly)
c.874C>G (p.Arg292Gly)
c.*121G>C (n.*121G>C)
n.745G>C
11g.72108698C>TCA6168635ANAPC15,LRRC51,LRTOMT,TOMTc.550C>T (p.Arg184Trp)
c.*60C>T (n.*60C>T)
c.649C>T (p.Arg217Trp)
c.*368C>T (n.*368C>T)
c.64-1093G>A (n.64-1093G>A)
c.319-1093G>A (n.319-1093G>A)
c.529C>T (p.Arg177Trp)
c.874C>T (p.Arg292Trp)
c.*121G>A (n.*121G>A)
n.745G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72108699G>ACA6168636ANAPC15,LRRC51,LRTOMT,TOMTc.551G>A (p.Arg184Gln)
c.*61G>A (n.*61G>A)
c.650G>A (p.Arg217Gln)
c.*369G>A (n.*369G>A)
c.64-1094C>T (n.64-1094C>T)
c.319-1094C>T (n.319-1094C>T)
c.530G>A (p.Arg177Gln)
c.875G>A (p.Arg292Gln)
c.*120C>T (n.*120C>T)
n.744C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72108699G>CCA381724522ANAPC15,LRRC51,LRTOMT,TOMTc.551G>C (p.Arg184Pro)
c.*61G>C (n.*61G>C)
c.650G>C (p.Arg217Pro)
c.*369G>C (n.*369G>C)
c.64-1094C>G (n.64-1094C>G)
c.319-1094C>G (n.319-1094C>G)
c.530G>C (p.Arg177Pro)
c.875G>C (p.Arg292Pro)
c.*120C>G (n.*120C>G)
n.744C>G
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.72108699G=CA1981841055ANAPC15,LRRC51,LRTOMT,TOMTc.551G= (p.Arg184=)
c.*61G= (n.*61G=)
c.650G= (p.Arg217=)
c.*369G= (n.*369G=)
c.64-1094C= (n.64-1094C=)
c.319-1094C= (n.319-1094C=)
c.530G= (p.Arg177=)
c.875G= (p.Arg292=)
c.*120C= (n.*120C=)
n.744C=
11g.72108699G>TCA381724521ANAPC15,LRRC51,LRTOMT,TOMTc.551G>T (p.Arg184Leu)
c.*61G>T (n.*61G>T)
c.650G>T (p.Arg217Leu)
c.*369G>T (n.*369G>T)
c.64-1094C>A (n.64-1094C>A)
c.319-1094C>A (n.319-1094C>A)
c.530G>T (p.Arg177Leu)
c.875G>T (p.Arg292Leu)
c.*120C>A (n.*120C>A)
n.744C>A
dbSNP gnomAD v4
11g.72108700G>ACA475592559ANAPC15,LRRC51,LRTOMT,TOMTc.552G>A (p.Arg184=)
c.*62G>A (n.*62G>A)
c.651G>A (p.Arg217=)
c.*370G>A (n.*370G>A)
c.64-1095C>T (n.64-1095C>T)
c.319-1095C>T (n.319-1095C>T)
c.531G>A (p.Arg177=)
c.876G>A (p.Arg292=)
c.*119C>T (n.*119C>T)
n.743C>T
gnomAD v4
11g.72108700G>CCA475592560ANAPC15,LRRC51,LRTOMT,TOMTc.552G>C (p.Arg184=)
c.*62G>C (n.*62G>C)
c.651G>C (p.Arg217=)
c.*370G>C (n.*370G>C)
c.64-1095C>G (n.64-1095C>G)
c.319-1095C>G (n.319-1095C>G)
c.531G>C (p.Arg177=)
c.876G>C (p.Arg292=)
c.*119C>G (n.*119C>G)
n.743C>G
11g.72108700G>TCA475592561ANAPC15,LRRC51,LRTOMT,TOMTc.552G>T (p.Arg184=)
c.*62G>T (n.*62G>T)
c.651G>T (p.Arg217=)
c.*370G>T (n.*370G>T)
c.64-1095C>A (n.64-1095C>A)
c.319-1095C>A (n.319-1095C>A)
c.531G>T (p.Arg177=)
c.876G>T (p.Arg292=)
c.*119C>A (n.*119C>A)
n.743C>A
gnomAD v4
11g.72108701C>ACA381724523ANAPC15,LRRC51,LRTOMT,TOMTc.553C>A (p.Pro185Thr)
c.*63C>A (n.*63C>A)
c.652C>A (p.Pro218Thr)
c.*371C>A (n.*371C>A)
c.64-1096G>T (n.64-1096G>T)
c.319-1096G>T (n.319-1096G>T)
c.532C>A (p.Pro178Thr)
c.877C>A (p.Pro293Thr)
c.*118G>T (n.*118G>T)
n.742G>T
11g.72108701C>GCA381724534ANAPC15,LRRC51,LRTOMT,TOMTc.553C>G (p.Pro185Ala)
c.*63C>G (n.*63C>G)
c.652C>G (p.Pro218Ala)
c.*371C>G (n.*371C>G)
c.64-1096G>C (n.64-1096G>C)
c.319-1096G>C (n.319-1096G>C)
c.532C>G (p.Pro178Ala)
c.877C>G (p.Pro293Ala)
c.*118G>C (n.*118G>C)
n.742G>C
11g.72108701C>TCA381724538ANAPC15,LRRC51,LRTOMT,TOMTc.553C>T (p.Pro185Ser)
c.*63C>T (n.*63C>T)
c.652C>T (p.Pro218Ser)
c.*371C>T (n.*371C>T)
c.64-1096G>A (n.64-1096G>A)
c.319-1096G>A (n.319-1096G>A)
c.532C>T (p.Pro178Ser)
c.877C>T (p.Pro293Ser)
c.*118G>A (n.*118G>A)
n.742G>A
11g.72108702C>ACA381724542ANAPC15,LRRC51,LRTOMT,TOMTc.554C>A (p.Pro185Gln)
c.*64C>A (n.*64C>A)
c.653C>A (p.Pro218Gln)
c.*372C>A (n.*372C>A)
c.64-1097G>T (n.64-1097G>T)
c.319-1097G>T (n.319-1097G>T)
c.533C>A (p.Pro178Gln)
c.878C>A (p.Pro293Gln)
c.*117G>T (n.*117G>T)
n.741G>T
gnomAD v4
11g.72108702C>GCA381724543ANAPC15,LRRC51,LRTOMT,TOMTc.554C>G (p.Pro185Arg)
c.*64C>G (n.*64C>G)
c.653C>G (p.Pro218Arg)
c.*372C>G (n.*372C>G)
c.64-1097G>C (n.64-1097G>C)
c.319-1097G>C (n.319-1097G>C)
c.533C>G (p.Pro178Arg)
c.878C>G (p.Pro293Arg)
c.*117G>C (n.*117G>C)
n.741G>C
COSMIC
11g.72108702C>TCA381724545ANAPC15,LRRC51,LRTOMT,TOMTc.554C>T (p.Pro185Leu)
c.*64C>T (n.*64C>T)
c.653C>T (p.Pro218Leu)
c.*372C>T (n.*372C>T)
c.64-1097G>A (n.64-1097G>A)
c.319-1097G>A (n.319-1097G>A)
c.533C>T (p.Pro178Leu)
c.878C>T (p.Pro293Leu)
c.*117G>A (n.*117G>A)
n.741G>A
11g.72108703A>CCA475592562ANAPC15,LRRC51,LRTOMT,TOMTc.555A>C (p.Pro185=)
c.*65A>C (n.*65A>C)
c.654A>C (p.Pro218=)
c.*373A>C (n.*373A>C)
c.64-1098T>G (n.64-1098T>G)
c.319-1098T>G (n.319-1098T>G)
c.534A>C (p.Pro178=)
c.879A>C (p.Pro293=)
c.*116T>G (n.*116T>G)
n.740T>G
11g.72108703A>GCA475592563ANAPC15,LRRC51,LRTOMT,TOMTc.555A>G (p.Pro185=)
c.*65A>G (n.*65A>G)
c.654A>G (p.Pro218=)
c.*373A>G (n.*373A>G)
c.64-1098T>C (n.64-1098T>C)
c.319-1098T>C (n.319-1098T>C)
c.534A>G (p.Pro178=)
c.879A>G (p.Pro293=)
c.*116T>C (n.*116T>C)
n.740T>C
11g.72108703A>TCA475592564ANAPC15,LRRC51,LRTOMT,TOMTc.555A>T (p.Pro185=)
c.*65A>T (n.*65A>T)
c.654A>T (p.Pro218=)
c.*373A>T (n.*373A>T)
c.64-1098T>A (n.64-1098T>A)
c.319-1098T>A (n.319-1098T>A)
c.534A>T (p.Pro178=)
c.879A>T (p.Pro293=)
c.*116T>A (n.*116T>A)
n.740T>A
11g.72108704C>ACA475592565ANAPC15,LRRC51,LRTOMT,TOMTc.556C>A (p.Arg186=)
c.*66C>A (n.*66C>A)
c.655C>A (p.Arg219=)
c.*374C>A (n.*374C>A)
c.64-1099G>T (n.64-1099G>T)
c.319-1099G>T (n.319-1099G>T)
c.535C>A (p.Arg179=)
c.880C>A (p.Arg294=)
c.*115G>T (n.*115G>T)
n.739G>T
11g.72108704C=CA1981841056ANAPC15,LRRC51,LRTOMT,TOMTc.556C= (p.Arg186=)
c.*66C= (n.*66C=)
c.655C= (p.Arg219=)
c.*374C= (n.*374C=)
c.64-1099G= (n.64-1099G=)
c.319-1099G= (n.319-1099G=)
c.535C= (p.Arg179=)
c.880C= (p.Arg294=)
c.*115G= (n.*115G=)
n.739G=
11g.72108704C>GCA381724548ANAPC15,LRRC51,LRTOMT,TOMTc.556C>G (p.Arg186Gly)
c.*66C>G (n.*66C>G)
c.655C>G (p.Arg219Gly)
c.*374C>G (n.*374C>G)
c.64-1099G>C (n.64-1099G>C)
c.319-1099G>C (n.319-1099G>C)
c.535C>G (p.Arg179Gly)
c.880C>G (p.Arg294Gly)
c.*115G>C (n.*115G>C)
n.739G>C
11g.72108704C>TCA224375602ANAPC15,LRRC51,LRTOMT,TOMTc.556C>T (p.Arg186Ter)
c.*66C>T (n.*66C>T)
c.655C>T (p.Arg219Ter)
c.*374C>T (n.*374C>T)
c.64-1099G>A (n.64-1099G>A)
c.319-1099G>A (n.319-1099G>A)
c.535C>T (p.Arg179Ter)
c.880C>T (p.Arg294Ter)
c.*115G>A (n.*115G>A)
n.739G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.72108704_72108707delinsCGATCA1981841057ANAPC15,LRRC51,LRTOMT,TOMTc.556_559delinsCGAT (p.Arg186=)
c.*66_*69delinsCGAT (n.*66_*69delinsCGAT)
c.655_658delinsCGAT (p.Arg219=)
c.*374_*377delinsCGAT (n.*374_*377delinsCGAT)
c.64-1102_64-1099delinsATCG (n.64-1102_64-1099delinsATCG)
c.319-1102_319-1099delinsATCG (n.319-1102_319-1099delinsATCG)
c.535_538delinsCGAT (p.Arg179=)
c.880_883delinsCGAT (p.Arg294=)
c.*112_*115delinsATCG (n.*112_*115delinsATCG)
n.736_739delinsATCG
11g.72108705G>ACA381724554ANAPC15,LRRC51,LRTOMT,TOMTc.557G>A (p.Arg186Gln)
c.*67G>A (n.*67G>A)
c.656G>A (p.Arg219Gln)
c.*375G>A (n.*375G>A)
c.64-1100C>T (n.64-1100C>T)
c.319-1100C>T (n.319-1100C>T)
c.536G>A (p.Arg179Gln)
c.881G>A (p.Arg294Gln)
c.*114C>T (n.*114C>T)
n.738C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72108705G>CCA381724555ANAPC15,LRRC51,LRTOMT,TOMTc.557G>C (p.Arg186Pro)
c.*67G>C (n.*67G>C)
c.656G>C (p.Arg219Pro)
c.*375G>C (n.*375G>C)
c.64-1100C>G (n.64-1100C>G)
c.319-1100C>G (n.319-1100C>G)
c.536G>C (p.Arg179Pro)
c.881G>C (p.Arg294Pro)
c.*114C>G (n.*114C>G)
n.738C>G
11g.72108705G=CA1981841059ANAPC15,LRRC51,LRTOMT,TOMTc.557G= (p.Arg186=)
c.*67G= (n.*67G=)
c.656G= (p.Arg219=)
c.*375G= (n.*375G=)
c.64-1100C= (n.64-1100C=)
c.319-1100C= (n.319-1100C=)
c.536G= (p.Arg179=)
c.881G= (p.Arg294=)
c.*114C= (n.*114C=)
n.738C=
11g.72108705G>TCA381724557ANAPC15,LRRC51,LRTOMT,TOMTc.557G>T (p.Arg186Leu)
c.*67G>T (n.*67G>T)
c.656G>T (p.Arg219Leu)
c.*375G>T (n.*375G>T)
c.64-1100C>A (n.64-1100C>A)
c.319-1100C>A (n.319-1100C>A)
c.536G>T (p.Arg179Leu)
c.881G>T (p.Arg294Leu)
c.*114C>A (n.*114C>A)
n.738C>A
gnomAD v4
11g.72108706_72108708delCA1981841058ANAPC15,LRRC51,LRTOMT,TOMTc.558_560del (p.Cys187del)
c.*68_*70del (n.*68_*70del)
c.657_659del (p.Cys220del)
c.*376_*378del (n.*376_*378del)
c.64-1102_64-1100del (n.64-1102_64-1100del)
c.319-1102_319-1100del (n.319-1102_319-1100del)
c.537_539del (p.Cys180del)
c.882_884del (p.Cys295del)
c.*112_*114del (n.*112_*114del)
n.736_738del
dbSNP gnomAD v4
11g.72108706A>CCA475592566ANAPC15,LRRC51,LRTOMT,TOMTc.558A>C (p.Arg186=)
c.*68A>C (n.*68A>C)
c.657A>C (p.Arg219=)
c.*376A>C (n.*376A>C)
c.64-1101T>G (n.64-1101T>G)
c.319-1101T>G (n.319-1101T>G)
c.537A>C (p.Arg179=)
c.882A>C (p.Arg294=)
c.*113T>G (n.*113T>G)
n.737T>G
11g.72108706A>GCA475592567ANAPC15,LRRC51,LRTOMT,TOMTc.558A>G (p.Arg186=)
c.*68A>G (n.*68A>G)
c.657A>G (p.Arg219=)
c.*376A>G (n.*376A>G)
c.64-1101T>C (n.64-1101T>C)
c.319-1101T>C (n.319-1101T>C)
c.537A>G (p.Arg179=)
c.882A>G (p.Arg294=)
c.*113T>C (n.*113T>C)
n.737T>C
gnomAD v4
11g.72108706A>TCA475592568ANAPC15,LRRC51,LRTOMT,TOMTc.558A>T (p.Arg186=)
c.*68A>T (n.*68A>T)
c.657A>T (p.Arg219=)
c.*376A>T (n.*376A>T)
c.64-1101T>A (n.64-1101T>A)
c.319-1101T>A (n.319-1101T>A)
c.537A>T (p.Arg179=)
c.882A>T (p.Arg294=)
c.*113T>A (n.*113T>A)
n.737T>A
11g.72108707T>ACA381724566ANAPC15,LRRC51,LRTOMT,TOMTc.559T>A (p.Cys187Ser)
c.*69T>A (n.*69T>A)
c.658T>A (p.Cys220Ser)
c.*377T>A (n.*377T>A)
c.64-1102A>T (n.64-1102A>T)
c.319-1102A>T (n.319-1102A>T)
c.538T>A (p.Cys180Ser)
c.883T>A (p.Cys295Ser)
c.*112A>T (n.*112A>T)
n.736A>T
dbSNP
11g.72108707T>CCA381724561ANAPC15,LRRC51,LRTOMT,TOMTc.559T>C (p.Cys187Arg)
c.*69T>C (n.*69T>C)
c.658T>C (p.Cys220Arg)
c.*377T>C (n.*377T>C)
c.64-1102A>G (n.64-1102A>G)
c.319-1102A>G (n.319-1102A>G)
c.538T>C (p.Cys180Arg)
c.883T>C (p.Cys295Arg)
c.*112A>G (n.*112A>G)
n.736A>G
11g.72108707T>GCA381724563ANAPC15,LRRC51,LRTOMT,TOMTc.559T>G (p.Cys187Gly)
c.*69T>G (n.*69T>G)
c.658T>G (p.Cys220Gly)
c.*377T>G (n.*377T>G)
c.64-1102A>C (n.64-1102A>C)
c.319-1102A>C (n.319-1102A>C)
c.538T>G (p.Cys180Gly)
c.883T>G (p.Cys295Gly)
c.*112A>C (n.*112A>C)
n.736A>C
11g.72108707T=CA1981841060ANAPC15,LRRC51,LRTOMT,TOMTc.559T= (p.Cys187=)
c.*69T= (n.*69T=)
c.658T= (p.Cys220=)
c.*377T= (n.*377T=)
c.64-1102A= (n.64-1102A=)
c.319-1102A= (n.319-1102A=)
c.538T= (p.Cys180=)
c.883T= (p.Cys295=)
c.*112A= (n.*112A=)
n.736A=

Number of alleles fetched