Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.72106128C>ACA475864891LRRC51,LRTOMT,TOMTc.177C>A (p.Pro59=)
c.438-2477C>A (n.438-2477C>A)
c.145C>A (p.Arg49=)
c.276C>A (p.Pro92=)
c.156C>A (p.Pro52=)
c.679C>A (p.Arg227=)
n.334C>A
c.559C>A (p.Arg187=)
c.501C>A (p.Pro167=)
11g.72106128C=CA1981839921LRRC51,LRTOMT,TOMTc.177C= (p.Pro59=)
c.438-2477C= (n.438-2477C=)
c.145C= (p.Arg49=)
c.276C= (p.Pro92=)
c.156C= (p.Pro52=)
c.679C= (p.Arg227=)
n.334C=
c.559C= (p.Arg187=)
c.501C= (p.Pro167=)
11g.72106128C>GCA475864892LRRC51,LRTOMT,TOMTc.177C>G (p.Pro59=)
c.438-2477C>G (n.438-2477C>G)
c.145C>G (p.Arg49Gly)
c.276C>G (p.Pro92=)
c.156C>G (p.Pro52=)
c.679C>G (p.Arg227Gly)
n.334C>G
c.559C>G (p.Arg187Gly)
c.501C>G (p.Pro167=)
 dbSNP gnomAD v4
11g.72106128C>TCA10631493LRRC51,LRTOMT,TOMTc.177C>T (p.Pro59=)
c.438-2477C>T (n.438-2477C>T)
c.145C>T (p.Arg49Trp)
c.276C>T (p.Pro92=)
c.156C>T (p.Pro52=)
c.679C>T (p.Arg227Trp)
n.334C>T
c.559C>T (p.Arg187Trp)
c.501C>T (p.Pro167=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106129G>ACA224374563LRRC51,LRTOMT,TOMTc.178G>A (p.Gly60Ser)
c.438-2476G>A (n.438-2476G>A)
c.146G>A (p.Arg49Gln)
c.277G>A (p.Gly93Ser)
c.157G>A (p.Gly53Ser)
c.680G>A (p.Arg227Gln)
n.335G>A
c.560G>A (p.Arg187Gln)
c.502G>A (p.Gly168Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106129G>CCA381717908LRRC51,LRTOMT,TOMTc.178G>C (p.Gly60Arg)
c.438-2476G>C (n.438-2476G>C)
c.146G>C (p.Arg49Pro)
c.277G>C (p.Gly93Arg)
c.157G>C (p.Gly53Arg)
c.680G>C (p.Arg227Pro)
n.335G>C
c.560G>C (p.Arg187Pro)
c.502G>C (p.Gly168Arg)
11g.72106129G=CA1981839922LRRC51,LRTOMT,TOMTc.178G= (p.Gly60=)
c.438-2476G= (n.438-2476G=)
c.146G= (p.Arg49=)
c.277G= (p.Gly93=)
c.157G= (p.Gly53=)
c.680G= (p.Arg227=)
n.335G=
c.560G= (p.Arg187=)
c.502G= (p.Gly168=)
11g.72106129G>TCA381717910LRRC51,LRTOMT,TOMTc.178G>T (p.Gly60Cys)
c.438-2476G>T (n.438-2476G>T)
c.146G>T (p.Arg49Leu)
c.277G>T (p.Gly93Cys)
c.157G>T (p.Gly53Cys)
c.680G>T (p.Arg227Leu)
n.335G>T
c.560G>T (p.Arg187Leu)
c.502G>T (p.Gly168Cys)
 gnomAD v4
11g.72106130G>ACA381717912LRRC51,LRTOMT,TOMTc.179G>A (p.Gly60Asp)
c.438-2475G>A (n.438-2475G>A)
c.147G>A (p.Arg49=)
c.278G>A (p.Gly93Asp)
c.158G>A (p.Gly53Asp)
c.681G>A (p.Arg227=)
n.336G>A
c.561G>A (p.Arg187=)
c.503G>A (p.Gly168Asp)
 dbSNP
11g.72106130G>CCA381717914LRRC51,LRTOMT,TOMTc.179G>C (p.Gly60Ala)
c.438-2475G>C (n.438-2475G>C)
c.147G>C (p.Arg49=)
c.278G>C (p.Gly93Ala)
c.158G>C (p.Gly53Ala)
c.681G>C (p.Arg227=)
n.336G>C
c.561G>C (p.Arg187=)
c.503G>C (p.Gly168Ala)
11g.72106130G=CA1981839923LRRC51,LRTOMT,TOMTc.179G= (p.Gly60=)
c.438-2475G= (n.438-2475G=)
c.147G= (p.Arg49=)
c.278G= (p.Gly93=)
c.158G= (p.Gly53=)
c.681G= (p.Arg227=)
n.336G=
c.561G= (p.Arg187=)
c.503G= (p.Gly168=)
11g.72106130G>TCA381717916LRRC51,LRTOMT,TOMTc.179G>T (p.Gly60Val)
c.438-2475G>T (n.438-2475G>T)
c.147G>T (p.Arg49=)
c.278G>T (p.Gly93Val)
c.158G>T (p.Gly53Val)
c.681G>T (p.Arg227=)
n.336G>T
c.561G>T (p.Arg187=)
c.503G>T (p.Gly168Val)
 gnomAD v4
11g.72106131T>ACA475864893LRRC51,LRTOMT,TOMTc.180T>A (p.Gly60=)
c.438-2474T>A (n.438-2474T>A)
c.148T>A (p.Ter50Arg)
c.279T>A (p.Gly93=)
c.159T>A (p.Gly53=)
c.682T>A (p.Ter228Arg)
n.337T>A
c.562T>A (p.Ter188Arg)
c.504T>A (p.Gly168=)
 gnomAD v4
11g.72106131T>CCA475864894LRRC51,LRTOMT,TOMTc.180T>C (p.Gly60=)
c.438-2474T>C (n.438-2474T>C)
c.148T>C (p.Ter50Arg)
c.279T>C (p.Gly93=)
c.159T>C (p.Gly53=)
c.682T>C (p.Ter228Arg)
n.337T>C
c.562T>C (p.Ter188Arg)
c.504T>C (p.Gly168=)
11g.72106131T>GCA475864895LRRC51,LRTOMT,TOMTc.180T>G (p.Gly60=)
c.438-2474T>G (n.438-2474T>G)
c.148T>G (p.Ter50Gly)
c.279T>G (p.Gly93=)
c.159T>G (p.Gly53=)
c.682T>G (p.Ter228Gly)
n.337T>G
c.562T>G (p.Ter188Gly)
c.504T>G (p.Gly168=)
11g.72106132G>ACA381717926LRRC51,LRTOMT,TOMTc.181G>A (p.Asp61Asn)
c.438-2473G>A (n.438-2473G>A)
c.149G>A (p.Ter50=)
c.280G>A (p.Asp94Asn)
c.160G>A (p.Asp54Asn)
c.683G>A (p.Ter228=)
n.338G>A
c.563G>A (p.Ter188=)
c.505G>A (p.Asp169Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.72106132G>CCA381717923LRRC51,LRTOMT,TOMTc.181G>C (p.Asp61His)
c.438-2473G>C (n.438-2473G>C)
c.149G>C (p.Ter50Ser)
c.280G>C (p.Asp94His)
c.160G>C (p.Asp54His)
c.683G>C (p.Ter228Ser)
n.338G>C
c.563G>C (p.Ter188Ser)
c.505G>C (p.Asp169His)
11g.72106132G=CA1981839924LRRC51,LRTOMT,TOMTc.181G= (p.Asp61=)
c.438-2473G= (n.438-2473G=)
c.149G= (p.Ter50=)
c.280G= (p.Asp94=)
c.160G= (p.Asp54=)
c.683G= (p.Ter228=)
n.338G=
c.563G= (p.Ter188=)
c.505G= (p.Asp169=)
11g.72106132G>TCA381717920LRRC51,LRTOMT,TOMTc.181G>T (p.Asp61Tyr)
c.438-2473G>T (n.438-2473G>T)
c.149G>T (p.Ter50Leu)
c.280G>T (p.Asp94Tyr)
c.160G>T (p.Asp54Tyr)
c.683G>T (p.Ter228Leu)
n.338G>T
c.563G>T (p.Ter188Leu)
c.505G>T (p.Asp169Tyr)
 gnomAD v4
11g.72106133A>CCA381717930LRRC51,LRTOMT,TOMTc.182A>C (p.Asp61Ala)
c.438-2472A>C (n.438-2472A>C)
c.150A>C (p.Ter50Cys)
c.281A>C (p.Asp94Ala)
c.161A>C (p.Asp54Ala)
c.684A>C (p.Ter228Cys)
n.339A>C
c.564A>C (p.Ter188Cys)
c.506A>C (p.Asp169Ala)
11g.72106133A>GCA381717932LRRC51,LRTOMT,TOMTc.182A>G (p.Asp61Gly)
c.438-2472A>G (n.438-2472A>G)
c.150A>G (p.Ter50Trp)
c.281A>G (p.Asp94Gly)
c.161A>G (p.Asp54Gly)
c.684A>G (p.Ter228Trp)
n.339A>G
c.564A>G (p.Ter188Trp)
c.506A>G (p.Asp169Gly)
11g.72106133A>TCA381717936LRRC51,LRTOMT,TOMTc.182A>T (p.Asp61Val)
c.438-2472A>T (n.438-2472A>T)
c.150A>T (p.Ter50Cys)
c.281A>T (p.Asp94Val)
c.161A>T (p.Asp54Val)
c.684A>T (p.Ter228Cys)
n.339A>T
c.564A>T (p.Ter188Cys)
c.506A>T (p.Asp169Val)
11g.72106134_72106144delCA2614917621LRRC51,LRTOMT,TOMTc.183_193del (p.Gly63HisfsTer?)
c.438-2471_438-2461del (n.438-2471_438-2461del)
c.*1_*11del (n.*1_*11del)
c.282_292del (p.Gly96HisfsTer?)
c.162_172del (p.Gly56HisfsTer?)
n.340_350del
c.507_517del (p.Gly171HisfsTer?)
 gnomAD v4
11g.72106134C>ACA381717942LRRC51,LRTOMT,TOMTc.183C>A (p.Asp61Glu)
c.438-2471C>A (n.438-2471C>A)
c.*1C>A (n.*1C>A)
c.282C>A (p.Asp94Glu)
c.162C>A (p.Asp54Glu)
n.340C>A
c.507C>A (p.Asp169Glu)
11g.72106134C=CA1981839925LRRC51,LRTOMT,TOMTc.183C= (p.Asp61=)
c.438-2471C= (n.438-2471C=)
c.*1C= (n.*1C=)
c.282C= (p.Asp94=)
c.162C= (p.Asp54=)
n.340C=
c.507C= (p.Asp169=)
11g.72106134C>GCA381717944LRRC51,LRTOMT,TOMTc.183C>G (p.Asp61Glu)
c.438-2471C>G (n.438-2471C>G)
c.*1C>G (n.*1C>G)
c.282C>G (p.Asp94Glu)
c.162C>G (p.Asp54Glu)
n.340C>G
c.507C>G (p.Asp169Glu)
11g.72106134C>TCA475864896LRRC51,LRTOMT,TOMTc.183C>T (p.Asp61=)
c.438-2471C>T (n.438-2471C>T)
c.*1C>T (n.*1C>T)
c.282C>T (p.Asp94=)
c.162C>T (p.Asp54=)
n.340C>T
c.507C>T (p.Asp169=)
 dbSNP gnomAD v3 gnomAD v4
11g.72106135C>ACA381717949LRRC51,LRTOMT,TOMTc.184C>A (p.Pro62Thr)
c.438-2470C>A (n.438-2470C>A)
c.*2C>A (n.*2C>A)
c.283C>A (p.Pro95Thr)
c.163C>A (p.Pro55Thr)
n.341C>A
c.508C>A (p.Pro170Thr)
11g.72106135C>GCA381717950LRRC51,LRTOMT,TOMTc.184C>G (p.Pro62Ala)
c.438-2470C>G (n.438-2470C>G)
c.*2C>G (n.*2C>G)
c.283C>G (p.Pro95Ala)
c.163C>G (p.Pro55Ala)
n.341C>G
c.508C>G (p.Pro170Ala)
11g.72106135C>TCA381717952LRRC51,LRTOMT,TOMTc.184C>T (p.Pro62Ser)
c.438-2470C>T (n.438-2470C>T)
c.*2C>T (n.*2C>T)
c.283C>T (p.Pro95Ser)
c.163C>T (p.Pro55Ser)
n.341C>T
c.508C>T (p.Pro170Ser)
11g.72106136C>ACA381717956LRRC51,LRTOMT,TOMTc.185C>A (p.Pro62His)
c.438-2469C>A (n.438-2469C>A)
c.*3C>A (n.*3C>A)
c.284C>A (p.Pro95His)
c.164C>A (p.Pro55His)
n.342C>A
c.509C>A (p.Pro170His)
 gnomAD v4
11g.72106136C>GCA381717959LRRC51,LRTOMT,TOMTc.185C>G (p.Pro62Arg)
c.438-2469C>G (n.438-2469C>G)
c.*3C>G (n.*3C>G)
c.284C>G (p.Pro95Arg)
c.164C>G (p.Pro55Arg)
n.342C>G
c.509C>G (p.Pro170Arg)
11g.72106136C>TCA381717962LRRC51,LRTOMT,TOMTc.185C>T (p.Pro62Leu)
c.438-2469C>T (n.438-2469C>T)
c.*3C>T (n.*3C>T)
c.284C>T (p.Pro95Leu)
c.164C>T (p.Pro55Leu)
n.342C>T
c.509C>T (p.Pro170Leu)
11g.72106137delCA2614917624LRRC51,LRTOMT,TOMTc.186del (p.Gly63ValfsTer17)
c.438-2468del (n.438-2468del)
c.*4del (n.*4del)
c.285del (p.Gly96ValfsTer17)
c.165del (p.Gly56ValfsTer17)
n.343del
c.510del (p.Gly171ValfsTer17)
 gnomAD v4
11g.72106137T>ACA475864897LRRC51,LRTOMT,TOMTc.186T>A (p.Pro62=)
c.438-2468T>A (n.438-2468T>A)
c.*4T>A (n.*4T>A)
c.285T>A (p.Pro95=)
c.165T>A (p.Pro55=)
n.343T>A
c.510T>A (p.Pro170=)
11g.72106137T>CCA475864898LRRC51,LRTOMT,TOMTc.186T>C (p.Pro62=)
c.438-2468T>C (n.438-2468T>C)
c.*4T>C (n.*4T>C)
c.285T>C (p.Pro95=)
c.165T>C (p.Pro55=)
n.343T>C
c.510T>C (p.Pro170=)
11g.72106137T>GCA475864899LRRC51,LRTOMT,TOMTc.186T>G (p.Pro62=)
c.438-2468T>G (n.438-2468T>G)
c.*4T>G (n.*4T>G)
c.285T>G (p.Pro95=)
c.165T>G (p.Pro55=)
n.343T>G
c.510T>G (p.Pro170=)
11g.72106138G>ACA381717970LRRC51,LRTOMT,TOMTc.187G>A (p.Gly63Ser)
c.438-2467G>A (n.438-2467G>A)
c.*5G>A (n.*5G>A)
c.286G>A (p.Gly96Ser)
c.166G>A (p.Gly56Ser)
n.344G>A
c.511G>A (p.Gly171Ser)
 dbSNP gnomAD v3 gnomAD v4
11g.72106138G>CCA381717973LRRC51,LRTOMT,TOMTc.187G>C (p.Gly63Arg)
c.438-2467G>C (n.438-2467G>C)
c.*5G>C (n.*5G>C)
c.286G>C (p.Gly96Arg)
c.166G>C (p.Gly56Arg)
n.344G>C
c.511G>C (p.Gly171Arg)
11g.72106138G=CA1981839926LRRC51,LRTOMT,TOMTc.187G= (p.Gly63=)
c.438-2467G= (n.438-2467G=)
c.*5G= (n.*5G=)
c.286G= (p.Gly96=)
c.166G= (p.Gly56=)
n.344G=
c.511G= (p.Gly171=)
11g.72106138G>TCA381717967LRRC51,LRTOMT,TOMTc.187G>T (p.Gly63Cys)
c.438-2467G>T (n.438-2467G>T)
c.*5G>T (n.*5G>T)
c.286G>T (p.Gly96Cys)
c.166G>T (p.Gly56Cys)
n.344G>T
c.511G>T (p.Gly171Cys)
 gnomAD v4
11g.72106139G>ACA6168585LRRC51,LRTOMT,TOMTc.188G>A (p.Gly63Asp)
c.438-2466G>A (n.438-2466G>A)
c.*6G>A (n.*6G>A)
c.287G>A (p.Gly96Asp)
c.167G>A (p.Gly56Asp)
n.345G>A
c.512G>A (p.Gly171Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106139G>CCA381717982LRRC51,LRTOMT,TOMTc.188G>C (p.Gly63Ala)
c.438-2466G>C (n.438-2466G>C)
c.*6G>C (n.*6G>C)
c.287G>C (p.Gly96Ala)
c.167G>C (p.Gly56Ala)
n.345G>C
c.512G>C (p.Gly171Ala)
11g.72106139G=CA1981839927LRRC51,LRTOMT,TOMTc.188G= (p.Gly63=)
c.438-2466G= (n.438-2466G=)
c.*6G= (n.*6G=)
c.287G= (p.Gly96=)
c.167G= (p.Gly56=)
n.345G=
c.512G= (p.Gly171=)
11g.72106139G>TCA381717985LRRC51,LRTOMT,TOMTc.188G>T (p.Gly63Val)
c.438-2466G>T (n.438-2466G>T)
c.*6G>T (n.*6G>T)
c.287G>T (p.Gly96Val)
c.167G>T (p.Gly56Val)
n.345G>T
c.512G>T (p.Gly171Val)
 gnomAD v4
11g.72106140T>ACA475864900LRRC51,LRTOMT,TOMTc.189T>A (p.Gly63=)
c.438-2465T>A (n.438-2465T>A)
c.*7T>A (n.*7T>A)
c.288T>A (p.Gly96=)
c.168T>A (p.Gly56=)
n.346T>A
c.513T>A (p.Gly171=)
11g.72106140T>CCA475864901LRRC51,LRTOMT,TOMTc.189T>C (p.Gly63=)
c.438-2465T>C (n.438-2465T>C)
c.*7T>C (n.*7T>C)
c.288T>C (p.Gly96=)
c.168T>C (p.Gly56=)
n.346T>C
c.513T>C (p.Gly171=)
 dbSNP
11g.72106140T>GCA475864902LRRC51,LRTOMT,TOMTc.189T>G (p.Gly63=)
c.438-2465T>G (n.438-2465T>G)
c.*7T>G (n.*7T>G)
c.288T>G (p.Gly96=)
c.168T>G (p.Gly56=)
n.346T>G
c.513T>G (p.Gly171=)
11g.72106140T=CA1981839928LRRC51,LRTOMT,TOMTc.189T= (p.Gly63=)
c.438-2465T= (n.438-2465T=)
c.*7T= (n.*7T=)
c.288T= (p.Gly96=)
c.168T= (p.Gly56=)
n.346T=
c.513T= (p.Gly171=)
11g.72106141C>ACA381717989LRRC51,LRTOMT,TOMTc.190C>A (p.His64Asn)
c.438-2464C>A (n.438-2464C>A)
c.*8C>A (n.*8C>A)
c.289C>A (p.His97Asn)
c.169C>A (p.His57Asn)
n.347C>A
c.514C>A (p.His172Asn)
 gnomAD v4
11g.72106141C>GCA381717992LRRC51,LRTOMT,TOMTc.190C>G (p.His64Asp)
c.438-2464C>G (n.438-2464C>G)
c.*8C>G (n.*8C>G)
c.289C>G (p.His97Asp)
c.169C>G (p.His57Asp)
n.347C>G
c.514C>G (p.His172Asp)
11g.72106141C>TCA381717995LRRC51,LRTOMT,TOMTc.190C>T (p.His64Tyr)
c.438-2464C>T (n.438-2464C>T)
c.*8C>T (n.*8C>T)
c.289C>T (p.His97Tyr)
c.169C>T (p.His57Tyr)
n.347C>T
c.514C>T (p.His172Tyr)
11g.72106142A>CCA381718000LRRC51,LRTOMT,TOMTc.191A>C (p.His64Pro)
c.438-2463A>C (n.438-2463A>C)
c.*9A>C (n.*9A>C)
c.290A>C (p.His97Pro)
c.170A>C (p.His57Pro)
n.348A>C
c.515A>C (p.His172Pro)
11g.72106142A>GCA381718003LRRC51,LRTOMT,TOMTc.191A>G (p.His64Arg)
c.438-2463A>G (n.438-2463A>G)
c.*9A>G (n.*9A>G)
c.290A>G (p.His97Arg)
c.170A>G (p.His57Arg)
n.348A>G
c.515A>G (p.His172Arg)
11g.72106142A>TCA381718006LRRC51,LRTOMT,TOMTc.191A>T (p.His64Leu)
c.438-2463A>T (n.438-2463A>T)
c.*9A>T (n.*9A>T)
c.290A>T (p.His97Leu)
c.170A>T (p.His57Leu)
n.348A>T
c.515A>T (p.His172Leu)
11g.72106143C>ACA381718010LRRC51,LRTOMT,TOMTc.192C>A (p.His64Gln)
c.438-2462C>A (n.438-2462C>A)
c.*10C>A (n.*10C>A)
c.291C>A (p.His97Gln)
c.171C>A (p.His57Gln)
n.349C>A
c.516C>A (p.His172Gln)
 gnomAD v4
11g.72106143C=CA1981839929LRRC51,LRTOMT,TOMTc.192C= (p.His64=)
c.438-2462C= (n.438-2462C=)
c.*10C= (n.*10C=)
c.291C= (p.His97=)
c.171C= (p.His57=)
n.349C=
c.516C= (p.His172=)
11g.72106143C>GCA381718013LRRC51,LRTOMT,TOMTc.192C>G (p.His64Gln)
c.438-2462C>G (n.438-2462C>G)
c.*10C>G (n.*10C>G)
c.291C>G (p.His97Gln)
c.171C>G (p.His57Gln)
n.349C>G
c.516C>G (p.His172Gln)
11g.72106143C>TCA6168586LRRC51,LRTOMT,TOMTc.192C>T (p.His64=)
c.438-2462C>T (n.438-2462C>T)
c.*10C>T (n.*10C>T)
c.291C>T (p.His97=)
c.171C>T (p.His57=)
n.349C>T
c.516C>T (p.His172=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.72106144A=CA1981839930LRRC51,LRTOMT,TOMTc.193A= (p.Ile65=)
c.438-2461A= (n.438-2461A=)
c.*11A= (n.*11A=)
c.292A= (p.Ile98=)
c.172A= (p.Ile58=)
n.350A=
c.517A= (p.Ile173=)
11g.72106144A>CCA381718023LRRC51,LRTOMT,TOMTc.193A>C (p.Ile65Leu)
c.438-2461A>C (n.438-2461A>C)
c.*11A>C (n.*11A>C)
c.292A>C (p.Ile98Leu)
c.172A>C (p.Ile58Leu)
n.350A>C
c.517A>C (p.Ile173Leu)
 dbSNP
11g.72106144A>GCA381718027LRRC51,LRTOMT,TOMTc.193A>G (p.Ile65Val)
c.438-2461A>G (n.438-2461A>G)
c.*11A>G (n.*11A>G)
c.292A>G (p.Ile98Val)
c.172A>G (p.Ile58Val)
n.350A>G
c.517A>G (p.Ile173Val)
11g.72106144A>TCA381718021LRRC51,LRTOMT,TOMTc.193A>T (p.Ile65Phe)
c.438-2461A>T (n.438-2461A>T)
c.*11A>T (n.*11A>T)
c.292A>T (p.Ile98Phe)
c.172A>T (p.Ile58Phe)
n.350A>T
c.517A>T (p.Ile173Phe)
11g.72106145T>ACA381718044LRRC51,LRTOMT,TOMTc.194T>A (p.Ile65Asn)
c.438-2460T>A (n.438-2460T>A)
c.*12T>A (n.*12T>A)
c.293T>A (p.Ile98Asn)
c.173T>A (p.Ile58Asn)
n.351T>A
c.518T>A (p.Ile173Asn)
11g.72106145T>CCA381718046LRRC51,LRTOMT,TOMTc.194T>C (p.Ile65Thr)
c.438-2460T>C (n.438-2460T>C)
c.*12T>C (n.*12T>C)
c.293T>C (p.Ile98Thr)
c.173T>C (p.Ile58Thr)
n.351T>C
c.518T>C (p.Ile173Thr)
 dbSNP gnomAD v3 gnomAD v4
11g.72106145T>GCA381718049LRRC51,LRTOMT,TOMTc.194T>G (p.Ile65Ser)
c.438-2460T>G (n.438-2460T>G)
c.*12T>G (n.*12T>G)
c.293T>G (p.Ile98Ser)
c.173T>G (p.Ile58Ser)
n.351T>G
c.518T>G (p.Ile173Ser)
11g.72106145T=CA1981839931LRRC51,LRTOMT,TOMTc.194T= (p.Ile65=)
c.438-2460T= (n.438-2460T=)
c.*12T= (n.*12T=)
c.293T= (p.Ile98=)
c.173T= (p.Ile58=)
n.351T=
c.518T= (p.Ile173=)
11g.72106146C>ACA475864904LRRC51,LRTOMT,TOMTc.195C>A (p.Ile65=)
c.438-2459C>A (n.438-2459C>A)
c.*13C>A (n.*13C>A)
c.294C>A (p.Ile98=)
c.174C>A (p.Ile58=)
n.352C>A
c.519C>A (p.Ile173=)
11g.72106146C>GCA381718053LRRC51,LRTOMT,TOMTc.195C>G (p.Ile65Met)
c.438-2459C>G (n.438-2459C>G)
c.*13C>G (n.*13C>G)
c.294C>G (p.Ile98Met)
c.174C>G (p.Ile58Met)
n.352C>G
c.519C>G (p.Ile173Met)
 gnomAD v4
11g.72106146C>TCA475864903LRRC51,LRTOMT,TOMTc.195C>T (p.Ile65=)
c.438-2459C>T (n.438-2459C>T)
c.*13C>T (n.*13C>T)
c.294C>T (p.Ile98=)
c.174C>T (p.Ile58=)
n.352C>T
c.519C>T (p.Ile173=)
 gnomAD v4
11g.72106147C>ACA381718062LRRC51,LRTOMT,TOMTc.196C>A (p.Leu66Ile)
c.438-2458C>A (n.438-2458C>A)
c.*14C>A (n.*14C>A)
c.295C>A (p.Leu99Ile)
c.175C>A (p.Leu59Ile)
n.353C>A
c.520C>A (p.Leu174Ile)
11g.72106147C=CA1981839932LRRC51,LRTOMT,TOMTc.196C= (p.Leu66=)
c.438-2458C= (n.438-2458C=)
c.*14C= (n.*14C=)
c.295C= (p.Leu99=)
c.175C= (p.Leu59=)
n.353C=
c.520C= (p.Leu174=)
11g.72106147C>GCA381718060LRRC51,LRTOMT,TOMTc.196C>G (p.Leu66Val)
c.438-2458C>G (n.438-2458C>G)
c.*14C>G (n.*14C>G)
c.295C>G (p.Leu99Val)
c.175C>G (p.Leu59Val)
n.353C>G
c.520C>G (p.Leu174Val)
11g.72106147C>TCA381718057LRRC51,LRTOMT,TOMTc.196C>T (p.Leu66Phe)
c.438-2458C>T (n.438-2458C>T)
c.*14C>T (n.*14C>T)
c.295C>T (p.Leu99Phe)
c.175C>T (p.Leu59Phe)
n.353C>T
c.520C>T (p.Leu174Phe)
 dbSNP gnomAD v2 gnomAD v4
11g.72106148T>ACA381718067LRRC51,LRTOMT,TOMTc.197T>A (p.Leu66His)
c.438-2457T>A (n.438-2457T>A)
c.*15T>A (n.*15T>A)
c.296T>A (p.Leu99His)
c.176T>A (p.Leu59His)
n.354T>A
c.521T>A (p.Leu174His)
11g.72106148T>CCA381718069LRRC51,LRTOMT,TOMTc.197T>C (p.Leu66Pro)
c.438-2457T>C (n.438-2457T>C)
c.*15T>C (n.*15T>C)
c.296T>C (p.Leu99Pro)
c.176T>C (p.Leu59Pro)
n.354T>C
c.521T>C (p.Leu174Pro)
11g.72106148T>GCA381718071LRRC51,LRTOMT,TOMTc.197T>G (p.Leu66Arg)
c.438-2457T>G (n.438-2457T>G)
c.*15T>G (n.*15T>G)
c.296T>G (p.Leu99Arg)
c.176T>G (p.Leu59Arg)
n.354T>G
c.521T>G (p.Leu174Arg)
11g.72106149C>ACA475864905LRRC51,LRTOMT,TOMTc.198C>A (p.Leu66=)
c.438-2456C>A (n.438-2456C>A)
c.*16C>A (n.*16C>A)
c.297C>A (p.Leu99=)
c.177C>A (p.Leu59=)
n.355C>A
c.522C>A (p.Leu174=)
 gnomAD v4
11g.72106149C>GCA475864907LRRC51,LRTOMT,TOMTc.198C>G (p.Leu66=)
c.438-2456C>G (n.438-2456C>G)
c.*16C>G (n.*16C>G)
c.297C>G (p.Leu99=)
c.177C>G (p.Leu59=)
n.355C>G
c.522C>G (p.Leu174=)
11g.72106149C>TCA475864906LRRC51,LRTOMT,TOMTc.198C>T (p.Leu66=)
c.438-2456C>T (n.438-2456C>T)
c.*16C>T (n.*16C>T)
c.297C>T (p.Leu99=)
c.177C>T (p.Leu59=)
n.355C>T
c.522C>T (p.Leu174=)
11g.72106150A>CCA381718076LRRC51,LRTOMT,TOMTc.199A>C (p.Thr67Pro)
c.438-2455A>C (n.438-2455A>C)
c.*17A>C (n.*17A>C)
c.298A>C (p.Thr100Pro)
c.178A>C (p.Thr60Pro)
n.356A>C
c.523A>C (p.Thr175Pro)
11g.72106150A>GCA381718078LRRC51,LRTOMT,TOMTc.199A>G (p.Thr67Ala)
c.438-2455A>G (n.438-2455A>G)
c.*17A>G (n.*17A>G)
c.298A>G (p.Thr100Ala)
c.178A>G (p.Thr60Ala)
n.356A>G
c.523A>G (p.Thr175Ala)
11g.72106150A>TCA381718082LRRC51,LRTOMT,TOMTc.199A>T (p.Thr67Ser)
c.438-2455A>T (n.438-2455A>T)
c.*17A>T (n.*17A>T)
c.298A>T (p.Thr100Ser)
c.178A>T (p.Thr60Ser)
n.356A>T
c.523A>T (p.Thr175Ser)
11g.72106151C>ACA381718087LRRC51,LRTOMT,TOMTc.200C>A (p.Thr67Asn)
c.438-2454C>A (n.438-2454C>A)
c.*18C>A (n.*18C>A)
c.299C>A (p.Thr100Asn)
c.179C>A (p.Thr60Asn)
n.357C>A
c.524C>A (p.Thr175Asn)
 gnomAD v4
11g.72106151C>GCA381718086LRRC51,LRTOMT,TOMTc.200C>G (p.Thr67Ser)
c.438-2454C>G (n.438-2454C>G)
c.*18C>G (n.*18C>G)
c.299C>G (p.Thr100Ser)
c.179C>G (p.Thr60Ser)
n.357C>G
c.524C>G (p.Thr175Ser)
11g.72106151C>TCA381718085LRRC51,LRTOMT,TOMTc.200C>T (p.Thr67Ile)
c.438-2454C>T (n.438-2454C>T)
c.*18C>T (n.*18C>T)
c.299C>T (p.Thr100Ile)
c.179C>T (p.Thr60Ile)
n.357C>T
c.524C>T (p.Thr175Ile)
 gnomAD v4
11g.72106152delCA2614917647LRRC51,LRTOMT,TOMTc.201del (p.Thr68ProfsTer12)
c.438-2453del (n.438-2453del)
c.*19del (n.*19del)
c.300del (p.Thr101ProfsTer12)
c.180del (p.Thr61ProfsTer12)
n.358del
c.525del (p.Thr176ProfsTer12)
 gnomAD v4
11g.72106152C>ACA475864908LRRC51,LRTOMT,TOMTc.201C>A (p.Thr67=)
c.438-2453C>A (n.438-2453C>A)
c.*19C>A (n.*19C>A)
c.300C>A (p.Thr100=)
c.180C>A (p.Thr60=)
n.358C>A
c.525C>A (p.Thr175=)
11g.72106152C>GCA475864909LRRC51,LRTOMT,TOMTc.201C>G (p.Thr67=)
c.438-2453C>G (n.438-2453C>G)
c.*19C>G (n.*19C>G)
c.300C>G (p.Thr100=)
c.180C>G (p.Thr60=)
n.358C>G
c.525C>G (p.Thr175=)
11g.72106152C>TCA475864910LRRC51,LRTOMT,TOMTc.201C>T (p.Thr67=)
c.438-2453C>T (n.438-2453C>T)
c.*19C>T (n.*19C>T)
c.300C>T (p.Thr100=)
c.180C>T (p.Thr60=)
n.358C>T
c.525C>T (p.Thr175=)
11g.72106153A>CCA381718089LRRC51,LRTOMT,TOMTc.202A>C (p.Thr68Pro)
c.438-2452A>C (n.438-2452A>C)
c.*20A>C (n.*20A>C)
c.301A>C (p.Thr101Pro)
c.181A>C (p.Thr61Pro)
n.359A>C
c.526A>C (p.Thr176Pro)
11g.72106153A>GCA381718094LRRC51,LRTOMT,TOMTc.202A>G (p.Thr68Ala)
c.438-2452A>G (n.438-2452A>G)
c.*20A>G (n.*20A>G)
c.301A>G (p.Thr101Ala)
c.181A>G (p.Thr61Ala)
n.359A>G
c.526A>G (p.Thr176Ala)
11g.72106153A>TCA381718091LRRC51,LRTOMT,TOMTc.202A>T (p.Thr68Ser)
c.438-2452A>T (n.438-2452A>T)
c.*20A>T (n.*20A>T)
c.301A>T (p.Thr101Ser)
c.181A>T (p.Thr61Ser)
n.359A>T
c.526A>T (p.Thr176Ser)
11g.72106154C>ACA381718106LRRC51,LRTOMT,TOMTc.203C>A (p.Thr68Asn)
c.438-2451C>A (n.438-2451C>A)
c.*21C>A (n.*21C>A)
c.302C>A (p.Thr101Asn)
c.182C>A (p.Thr61Asn)
n.360C>A
c.527C>A (p.Thr176Asn)
 dbSNP gnomAD v4
11g.72106154C=CA1981839933LRRC51,LRTOMT,TOMTc.203C= (p.Thr68=)
c.438-2451C= (n.438-2451C=)
c.*21C= (n.*21C=)
c.302C= (p.Thr101=)
c.182C= (p.Thr61=)
n.360C=
c.527C= (p.Thr176=)
11g.72106154C>GCA381718110LRRC51,LRTOMT,TOMTc.203C>G (p.Thr68Ser)
c.438-2451C>G (n.438-2451C>G)
c.*21C>G (n.*21C>G)
c.302C>G (p.Thr101Ser)
c.182C>G (p.Thr61Ser)
n.360C>G
c.527C>G (p.Thr176Ser)
11g.72106154C>TCA224374571LRRC51,LRTOMT,TOMTc.203C>T (p.Thr68Ile)
c.438-2451C>T (n.438-2451C>T)
c.*21C>T (n.*21C>T)
c.302C>T (p.Thr101Ile)
c.182C>T (p.Thr61Ile)
n.360C>T
c.527C>T (p.Thr176Ile)
 dbSNP gnomAD v3 gnomAD v4
11g.72106155C>ACA475864911LRRC51,LRTOMT,TOMTc.204C>A (p.Thr68=)
c.438-2450C>A (n.438-2450C>A)
c.*22C>A (n.*22C>A)
c.303C>A (p.Thr101=)
c.183C>A (p.Thr61=)
n.361C>A
c.528C>A (p.Thr176=)
11g.72106155C=CA1981839934LRRC51,LRTOMT,TOMTc.204C= (p.Thr68=)
c.438-2450C= (n.438-2450C=)
c.*22C= (n.*22C=)
c.303C= (p.Thr101=)
c.183C= (p.Thr61=)
n.361C=
c.528C= (p.Thr176=)
11g.72106155C>GCA475864912LRRC51,LRTOMT,TOMTc.204C>G (p.Thr68=)
c.438-2450C>G (n.438-2450C>G)
c.*22C>G (n.*22C>G)
c.303C>G (p.Thr101=)
c.183C>G (p.Thr61=)
n.361C>G
c.528C>G (p.Thr176=)
11g.72106155C>TCA475864913LRRC51,LRTOMT,TOMTc.204C>T (p.Thr68=)
c.438-2450C>T (n.438-2450C>T)
c.*22C>T (n.*22C>T)
c.303C>T (p.Thr101=)
c.183C>T (p.Thr61=)
n.361C>T
c.528C>T (p.Thr176=)
 dbSNP gnomAD v4
11g.72106157_72106174dupCA2614917653LRRC51,LRTOMT,TOMTc.206_223dup (p.Ser74_Arg75insLeuAspHisTrpSerSer)
c.438-2448_438-2431dup (n.438-2448_438-2431dup)
c.*24_*41dup (n.*24_*41dup)
c.305_322dup (p.Ser107_Arg108insLeuAspHisTrpSerSer)
c.185_202dup (p.Ser67_Arg68insLeuAspHisTrpSerSer)
n.363_380dup
c.530_547dup (p.Ser182_Arg183insLeuAspHisTrpSerSer)
 gnomAD v4
11g.72106156C>ACA381718120LRRC51,LRTOMT,TOMTc.205C>A (p.Leu69Met)
c.438-2449C>A (n.438-2449C>A)
c.*23C>A (n.*23C>A)
c.304C>A (p.Leu102Met)
c.184C>A (p.Leu62Met)
n.362C>A
c.529C>A (p.Leu177Met)
 gnomAD v4
11g.72106156C=CA1981839935LRRC51,LRTOMT,TOMTc.205C= (p.Leu69=)
c.438-2449C= (n.438-2449C=)
c.*23C= (n.*23C=)
c.304C= (p.Leu102=)
c.184C= (p.Leu62=)
n.362C=
c.529C= (p.Leu177=)
11g.72106156C>GCA381718121LRRC51,LRTOMT,TOMTc.205C>G (p.Leu69Val)
c.438-2449C>G (n.438-2449C>G)
c.*23C>G (n.*23C>G)
c.304C>G (p.Leu102Val)
c.184C>G (p.Leu62Val)
n.362C>G
c.529C>G (p.Leu177Val)
11g.72106156C>TCA475864914LRRC51,LRTOMT,TOMTc.205C>T (p.Leu69=)
c.438-2449C>T (n.438-2449C>T)
c.*23C>T (n.*23C>T)
c.304C>T (p.Leu102=)
c.184C>T (p.Leu62=)
n.362C>T
c.529C>T (p.Leu177=)
 dbSNP gnomAD v3 gnomAD v4
11g.72106157T>ACA381718123LRRC51,LRTOMT,TOMTc.206T>A (p.Leu69Gln)
c.438-2448T>A (n.438-2448T>A)
c.*24T>A (n.*24T>A)
c.305T>A (p.Leu102Gln)
c.185T>A (p.Leu62Gln)
n.363T>A
c.530T>A (p.Leu177Gln)
11g.72106157T>CCA381718125LRRC51,LRTOMT,TOMTc.206T>C (p.Leu69Pro)
c.438-2448T>C (n.438-2448T>C)
c.*24T>C (n.*24T>C)
c.305T>C (p.Leu102Pro)
c.185T>C (p.Leu62Pro)
n.363T>C
c.530T>C (p.Leu177Pro)
 dbSNP gnomAD v4
11g.72106157T>GCA381718127LRRC51,LRTOMT,TOMTc.206T>G (p.Leu69Arg)
c.438-2448T>G (n.438-2448T>G)
c.*24T>G (n.*24T>G)
c.305T>G (p.Leu102Arg)
c.185T>G (p.Leu62Arg)
n.363T>G
c.530T>G (p.Leu177Arg)
11g.72106157T=CA1981839936LRRC51,LRTOMT,TOMTc.206T= (p.Leu69=)
c.438-2448T= (n.438-2448T=)
c.*24T= (n.*24T=)
c.305T= (p.Leu102=)
c.185T= (p.Leu62=)
n.363T=
c.530T= (p.Leu177=)
11g.72106158G>ACA475864915LRRC51,LRTOMT,TOMTc.207G>A (p.Leu69=)
c.438-2447G>A (n.438-2447G>A)
c.*25G>A (n.*25G>A)
c.306G>A (p.Leu102=)
c.186G>A (p.Leu62=)
n.364G>A
c.531G>A (p.Leu177=)
11g.72106158G>CCA475864916LRRC51,LRTOMT,TOMTc.207G>C (p.Leu69=)
c.438-2447G>C (n.438-2447G>C)
c.*25G>C (n.*25G>C)
c.306G>C (p.Leu102=)
c.186G>C (p.Leu62=)
n.364G>C
c.531G>C (p.Leu177=)
 dbSNP gnomAD v3 gnomAD v4
11g.72106158G=CA1981839937LRRC51,LRTOMT,TOMTc.207G= (p.Leu69=)
c.438-2447G= (n.438-2447G=)
c.*25G= (n.*25G=)
c.306G= (p.Leu102=)
c.186G= (p.Leu62=)
n.364G=
c.531G= (p.Leu177=)
11g.72106158G>TCA475864917LRRC51,LRTOMT,TOMTc.207G>T (p.Leu69=)
c.438-2447G>T (n.438-2447G>T)
c.*25G>T (n.*25G>T)
c.306G>T (p.Leu102=)
c.186G>T (p.Leu62=)
n.364G>T
c.531G>T (p.Leu177=)
 gnomAD v4
11g.72106159delCA2614917662LRRC51,LRTOMT,TOMTc.208del (p.Asp70ThrfsTer10)
c.438-2446del (n.438-2446del)
c.*26del (n.*26del)
c.307del (p.Asp103ThrfsTer10)
c.187del (p.Asp63ThrfsTer10)
n.365del
c.532del (p.Asp178ThrfsTer10)
 gnomAD v4
11g.72106159G>ACA381718130LRRC51,LRTOMT,TOMTc.208G>A (p.Asp70Asn)
c.438-2446G>A (n.438-2446G>A)
c.*26G>A (n.*26G>A)
c.307G>A (p.Asp103Asn)
c.187G>A (p.Asp63Asn)
n.365G>A
c.532G>A (p.Asp178Asn)
11g.72106159G>CCA381718134LRRC51,LRTOMT,TOMTc.208G>C (p.Asp70His)
c.438-2446G>C (n.438-2446G>C)
c.*26G>C (n.*26G>C)
c.307G>C (p.Asp103His)
c.187G>C (p.Asp63His)
n.365G>C
c.532G>C (p.Asp178His)
11g.72106159G>TCA381718132LRRC51,LRTOMT,TOMTc.208G>T (p.Asp70Tyr)
c.438-2446G>T (n.438-2446G>T)
c.*26G>T (n.*26G>T)
c.307G>T (p.Asp103Tyr)
c.187G>T (p.Asp63Tyr)
n.365G>T
c.532G>T (p.Asp178Tyr)
 gnomAD v4
11g.72106160A>CCA381718136LRRC51,LRTOMT,TOMTc.209A>C (p.Asp70Ala)
c.438-2445A>C (n.438-2445A>C)
c.*27A>C (n.*27A>C)
c.308A>C (p.Asp103Ala)
c.188A>C (p.Asp63Ala)
n.366A>C
c.533A>C (p.Asp178Ala)
 gnomAD v4
11g.72106160A>GCA381718137LRRC51,LRTOMT,TOMTc.209A>G (p.Asp70Gly)
c.438-2445A>G (n.438-2445A>G)
c.*27A>G (n.*27A>G)
c.308A>G (p.Asp103Gly)
c.188A>G (p.Asp63Gly)
n.366A>G
c.533A>G (p.Asp178Gly)
11g.72106160A>TCA381718140LRRC51,LRTOMT,TOMTc.209A>T (p.Asp70Val)
c.438-2445A>T (n.438-2445A>T)
c.*27A>T (n.*27A>T)
c.308A>T (p.Asp103Val)
c.188A>T (p.Asp63Val)
n.366A>T
c.533A>T (p.Asp178Val)
11g.72106161C>ACA381718142LRRC51,LRTOMT,TOMTc.210C>A (p.Asp70Glu)
c.438-2444C>A (n.438-2444C>A)
c.*28C>A (n.*28C>A)
c.309C>A (p.Asp103Glu)
c.189C>A (p.Asp63Glu)
n.367C>A
c.534C>A (p.Asp178Glu)
 dbSNP gnomAD v3 gnomAD v4
11g.72106161C=CA1981839938LRRC51,LRTOMT,TOMTc.210C= (p.Asp70=)
c.438-2444C= (n.438-2444C=)
c.*28C= (n.*28C=)
c.309C= (p.Asp103=)
c.189C= (p.Asp63=)
n.367C=
c.534C= (p.Asp178=)
11g.72106161C>GCA381718145LRRC51,LRTOMT,TOMTc.210C>G (p.Asp70Glu)
c.438-2444C>G (n.438-2444C>G)
c.*28C>G (n.*28C>G)
c.309C>G (p.Asp103Glu)
c.189C>G (p.Asp63Glu)
n.367C>G
c.534C>G (p.Asp178Glu)
11g.72106161C>TCA475864918LRRC51,LRTOMT,TOMTc.210C>T (p.Asp70=)
c.438-2444C>T (n.438-2444C>T)
c.*28C>T (n.*28C>T)
c.309C>T (p.Asp103=)
c.189C>T (p.Asp63=)
n.367C>T
c.534C>T (p.Asp178=)
 dbSNP gnomAD v2 gnomAD v4
11g.72106162C>ACA381718148LRRC51,LRTOMT,TOMTc.211C>A (p.His71Asn)
c.438-2443C>A (n.438-2443C>A)
c.*29C>A (n.*29C>A)
c.310C>A (p.His104Asn)
c.190C>A (p.His64Asn)
n.368C>A
c.535C>A (p.His179Asn)
 gnomAD v4
11g.72106162C>GCA381718153LRRC51,LRTOMT,TOMTc.211C>G (p.His71Asp)
c.438-2443C>G (n.438-2443C>G)
c.*29C>G (n.*29C>G)
c.310C>G (p.His104Asp)
c.190C>G (p.His64Asp)
n.368C>G
c.535C>G (p.His179Asp)
11g.72106162C>TCA381718151LRRC51,LRTOMT,TOMTc.211C>T (p.His71Tyr)
c.438-2443C>T (n.438-2443C>T)
c.*29C>T (n.*29C>T)
c.310C>T (p.His104Tyr)
c.190C>T (p.His64Tyr)
n.368C>T
c.535C>T (p.His179Tyr)
11g.72106163A=CA1981839939LRRC51,LRTOMT,TOMTc.212A= (p.His71=)
c.438-2442A= (n.438-2442A=)
c.*30A= (n.*30A=)
c.311A= (p.His104=)
c.191A= (p.His64=)
n.369A=
c.536A= (p.His179=)
11g.72106163A>CCA381718154LRRC51,LRTOMT,TOMTc.212A>C (p.His71Pro)
c.438-2442A>C (n.438-2442A>C)
c.*30A>C (n.*30A>C)
c.311A>C (p.His104Pro)
c.191A>C (p.His64Pro)
n.369A>C
c.536A>C (p.His179Pro)
11g.72106163A>GCA381718156LRRC51,LRTOMT,TOMTc.212A>G (p.His71Arg)
c.438-2442A>G (n.438-2442A>G)
c.*30A>G (n.*30A>G)
c.311A>G (p.His104Arg)
c.191A>G (p.His64Arg)
n.369A>G
c.536A>G (p.His179Arg)
11g.72106163A>TCA381718159LRRC51,LRTOMT,TOMTc.212A>T (p.His71Leu)
c.438-2442A>T (n.438-2442A>T)
c.*30A>T (n.*30A>T)
c.311A>T (p.His104Leu)
c.191A>T (p.His64Leu)
n.369A>T
c.536A>T (p.His179Leu)
11g.72106164C>ACA381718162LRRC51,LRTOMT,TOMTc.213C>A (p.His71Gln)
c.438-2441C>A (n.438-2441C>A)
c.*31C>A (n.*31C>A)
c.312C>A (p.His104Gln)
c.192C>A (p.His64Gln)
n.370C>A
c.537C>A (p.His179Gln)
11g.72106164C>GCA381718163LRRC51,LRTOMT,TOMTc.213C>G (p.His71Gln)
c.438-2441C>G (n.438-2441C>G)
c.*31C>G (n.*31C>G)
c.312C>G (p.His104Gln)
c.192C>G (p.His64Gln)
n.370C>G
c.537C>G (p.His179Gln)
11g.72106164C>TCA475864919LRRC51,LRTOMT,TOMTc.213C>T (p.His71=)
c.438-2441C>T (n.438-2441C>T)
c.*31C>T (n.*31C>T)
c.312C>T (p.His104=)
c.192C>T (p.His64=)
n.370C>T
c.537C>T (p.His179=)
11g.72106164_72106165dupCA6168587LRRC51,LRTOMT,TOMTc.213_214dup (p.Trp72SerfsTer9)
c.438-2441_438-2440dup (n.438-2441_438-2440dup)
c.*31_*32dup (n.*31_*32dup)
c.312_313dup (p.Trp105SerfsTer9)
c.192_193dup (p.Trp65SerfsTer9)
n.370_371dup
c.537_538dup (p.Trp180SerfsTer9)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.72106165T>ACA381718166LRRC51,LRTOMT,TOMTc.214T>A (p.Trp72Arg)
c.438-2440T>A (n.438-2440T>A)
c.*32T>A (n.*32T>A)
c.313T>A (p.Trp105Arg)
c.193T>A (p.Trp65Arg)
n.371T>A
c.538T>A (p.Trp180Arg)
11g.72106165T>CCA251497LRRC51,LRTOMT,TOMTc.214T>C (p.Trp72Arg)
c.438-2440T>C (n.438-2440T>C)
c.*32T>C (n.*32T>C)
c.313T>C (p.Trp105Arg)
c.193T>C (p.Trp65Arg)
n.371T>C
c.538T>C (p.Trp180Arg)
 ClinVar dbSNP gnomAD v4
11g.72106165T>GCA381718169LRRC51,LRTOMT,TOMTc.214T>G (p.Trp72Gly)
c.438-2440T>G (n.438-2440T>G)
c.*32T>G (n.*32T>G)
c.313T>G (p.Trp105Gly)
c.193T>G (p.Trp65Gly)
n.371T>G
c.538T>G (p.Trp180Gly)
11g.72106165T=CA1981839940LRRC51,LRTOMT,TOMTc.214T= (p.Trp72=)
c.438-2440T= (n.438-2440T=)
c.*32T= (n.*32T=)
c.313T= (p.Trp105=)
c.193T= (p.Trp65=)
n.371T=
c.538T= (p.Trp180=)
11g.72106166G>ACA381718172LRRC51,LRTOMT,TOMTc.215G>A (p.Trp72Ter)
c.438-2439G>A (n.438-2439G>A)
c.*33G>A (n.*33G>A)
c.314G>A (p.Trp105Ter)
c.194G>A (p.Trp65Ter)
n.372G>A
c.539G>A (p.Trp180Ter)
11g.72106166G>CCA381718173LRRC51,LRTOMT,TOMTc.215G>C (p.Trp72Ser)
c.438-2439G>C (n.438-2439G>C)
c.*33G>C (n.*33G>C)
c.314G>C (p.Trp105Ser)
c.194G>C (p.Trp65Ser)
n.372G>C
c.539G>C (p.Trp180Ser)
11g.72106166G>TCA381718176LRRC51,LRTOMT,TOMTc.215G>T (p.Trp72Leu)
c.438-2439G>T (n.438-2439G>T)
c.*33G>T (n.*33G>T)
c.314G>T (p.Trp105Leu)
c.194G>T (p.Trp65Leu)
n.372G>T
c.539G>T (p.Trp180Leu)
 gnomAD v4
11g.72106167G>ACA381718179LRRC51,LRTOMT,TOMTc.216G>A (p.Trp72Ter)
c.438-2438G>A (n.438-2438G>A)
c.*34G>A (n.*34G>A)
c.315G>A (p.Trp105Ter)
c.195G>A (p.Trp65Ter)
n.373G>A
c.540G>A (p.Trp180Ter)
 gnomAD v4
11g.72106167G>CCA381718182LRRC51,LRTOMT,TOMTc.216G>C (p.Trp72Cys)
c.438-2438G>C (n.438-2438G>C)
c.*34G>C (n.*34G>C)
c.315G>C (p.Trp105Cys)
c.195G>C (p.Trp65Cys)
n.373G>C
c.540G>C (p.Trp180Cys)
11g.72106167G>TCA381718181LRRC51,LRTOMT,TOMTc.216G>T (p.Trp72Cys)
c.438-2438G>T (n.438-2438G>T)
c.*34G>T (n.*34G>T)
c.315G>T (p.Trp105Cys)
c.195G>T (p.Trp65Cys)
n.373G>T
c.540G>T (p.Trp180Cys)
 gnomAD v4
11g.72106168A=CA1981839941LRRC51,LRTOMT,TOMTc.217A= (p.Ser73=)
c.438-2437A= (n.438-2437A=)
c.*35A= (n.*35A=)
c.316A= (p.Ser106=)
c.196A= (p.Ser66=)
n.374A=
c.541A= (p.Ser181=)
11g.72106168A>CCA381718183LRRC51,LRTOMT,TOMTc.217A>C (p.Ser73Arg)
c.438-2437A>C (n.438-2437A>C)
c.*35A>C (n.*35A>C)
c.316A>C (p.Ser106Arg)
c.196A>C (p.Ser66Arg)
n.374A>C
c.541A>C (p.Ser181Arg)
11g.72106168A>GCA381718184LRRC51,LRTOMT,TOMTc.217A>G (p.Ser73Gly)
c.438-2437A>G (n.438-2437A>G)
c.*35A>G (n.*35A>G)
c.316A>G (p.Ser106Gly)
c.196A>G (p.Ser66Gly)
n.374A>G
c.541A>G (p.Ser181Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106168A>TCA381718185LRRC51,LRTOMT,TOMTc.217A>T (p.Ser73Cys)
c.438-2437A>T (n.438-2437A>T)
c.*35A>T (n.*35A>T)
c.316A>T (p.Ser106Cys)
c.196A>T (p.Ser66Cys)
n.374A>T
c.541A>T (p.Ser181Cys)
 gnomAD v4
11g.72106169G>ACA381718189LRRC51,LRTOMT,TOMTc.218G>A (p.Ser73Asn)
c.438-2436G>A (n.438-2436G>A)
c.*36G>A (n.*36G>A)
c.317G>A (p.Ser106Asn)
c.197G>A (p.Ser66Asn)
n.375G>A
c.542G>A (p.Ser181Asn)
 dbSNP gnomAD v3 gnomAD v4
11g.72106169G>CCA381718191LRRC51,LRTOMT,TOMTc.218G>C (p.Ser73Thr)
c.438-2436G>C (n.438-2436G>C)
c.*36G>C (n.*36G>C)
c.317G>C (p.Ser106Thr)
c.197G>C (p.Ser66Thr)
n.375G>C
c.542G>C (p.Ser181Thr)
11g.72106169G=CA1981839942LRRC51,LRTOMT,TOMTc.218G= (p.Ser73=)
c.438-2436G= (n.438-2436G=)
c.*36G= (n.*36G=)
c.317G= (p.Ser106=)
c.197G= (p.Ser66=)
n.375G=
c.542G= (p.Ser181=)
11g.72106169G>TCA381718193LRRC51,LRTOMT,TOMTc.218G>T (p.Ser73Ile)
c.438-2436G>T (n.438-2436G>T)
c.*36G>T (n.*36G>T)
c.317G>T (p.Ser106Ile)
c.197G>T (p.Ser66Ile)
n.375G>T
c.542G>T (p.Ser181Ile)
 gnomAD v4
11g.72106170C>ACA381718196LRRC51,LRTOMT,TOMTc.219C>A (p.Ser73Arg)
c.438-2435C>A (n.438-2435C>A)
c.*37C>A (n.*37C>A)
c.318C>A (p.Ser106Arg)
c.198C>A (p.Ser66Arg)
n.376C>A
c.543C>A (p.Ser181Arg)
 gnomAD v4
11g.72106170C>GCA381718198LRRC51,LRTOMT,TOMTc.219C>G (p.Ser73Arg)
c.438-2435C>G (n.438-2435C>G)
c.*37C>G (n.*37C>G)
c.318C>G (p.Ser106Arg)
c.198C>G (p.Ser66Arg)
n.376C>G
c.543C>G (p.Ser181Arg)
11g.72106170C>TCA475864920LRRC51,LRTOMT,TOMTc.219C>T (p.Ser73=)
c.438-2435C>T (n.438-2435C>T)
c.*37C>T (n.*37C>T)
c.318C>T (p.Ser106=)
c.198C>T (p.Ser66=)
n.376C>T
c.543C>T (p.Ser181=)
11g.72106171A>CCA381718199LRRC51,LRTOMT,TOMTc.220A>C (p.Ser74Arg)
c.438-2434A>C (n.438-2434A>C)
c.*38A>C (n.*38A>C)
c.319A>C (p.Ser107Arg)
c.199A>C (p.Ser67Arg)
n.377A>C
c.544A>C (p.Ser182Arg)
11g.72106171A>GCA381718200LRRC51,LRTOMT,TOMTc.220A>G (p.Ser74Gly)
c.438-2434A>G (n.438-2434A>G)
c.*38A>G (n.*38A>G)
c.319A>G (p.Ser107Gly)
c.199A>G (p.Ser67Gly)
n.377A>G
c.544A>G (p.Ser182Gly)
 COSMIC
11g.72106171A>TCA381718201LRRC51,LRTOMT,TOMTc.220A>T (p.Ser74Cys)
c.438-2434A>T (n.438-2434A>T)
c.*38A>T (n.*38A>T)
c.319A>T (p.Ser107Cys)
c.199A>T (p.Ser67Cys)
n.377A>T
c.544A>T (p.Ser182Cys)
11g.72106172G>ACA381718203LRRC51,LRTOMT,TOMTc.221G>A (p.Ser74Asn)
c.438-2433G>A (n.438-2433G>A)
c.*39G>A (n.*39G>A)
c.320G>A (p.Ser107Asn)
c.200G>A (p.Ser67Asn)
n.378G>A
c.545G>A (p.Ser182Asn)
11g.72106172G>CCA6168588LRRC51,LRTOMT,TOMTc.221G>C (p.Ser74Thr)
c.438-2433G>C (n.438-2433G>C)
c.*39G>C (n.*39G>C)
c.320G>C (p.Ser107Thr)
c.200G>C (p.Ser67Thr)
n.378G>C
c.545G>C (p.Ser182Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.72106172G=CA1981839943LRRC51,LRTOMT,TOMTc.221G= (p.Ser74=)
c.438-2433G= (n.438-2433G=)
c.*39G= (n.*39G=)
c.320G= (p.Ser107=)
c.200G= (p.Ser67=)
n.378G=
c.545G= (p.Ser182=)
11g.72106172G>TCA381718207LRRC51,LRTOMT,TOMTc.221G>T (p.Ser74Ile)
c.438-2433G>T (n.438-2433G>T)
c.*39G>T (n.*39G>T)
c.320G>T (p.Ser107Ile)
c.200G>T (p.Ser67Ile)
n.378G>T
c.545G>T (p.Ser182Ile)
 gnomAD v4
11g.72106173C>ACA381718208LRRC51,LRTOMT,TOMTc.222C>A (p.Ser74Arg)
c.438-2432C>A (n.438-2432C>A)
c.*40C>A (n.*40C>A)
c.321C>A (p.Ser107Arg)
c.201C>A (p.Ser67Arg)
n.379C>A
c.546C>A (p.Ser182Arg)
 gnomAD v4
11g.72106173C>GCA381718210LRRC51,LRTOMT,TOMTc.222C>G (p.Ser74Arg)
c.438-2432C>G (n.438-2432C>G)
c.*40C>G (n.*40C>G)
c.321C>G (p.Ser107Arg)
c.201C>G (p.Ser67Arg)
n.379C>G
c.546C>G (p.Ser182Arg)
11g.72106173C>TCA475864921LRRC51,LRTOMT,TOMTc.222C>T (p.Ser74=)
c.438-2432C>T (n.438-2432C>T)
c.*40C>T (n.*40C>T)
c.321C>T (p.Ser107=)
c.201C>T (p.Ser67=)
n.379C>T
c.546C>T (p.Ser182=)
 gnomAD v4
11g.72106174C>ACA381718213LRRC51,LRTOMT,TOMTc.223C>A (p.Arg75Ser)
c.438-2431C>A (n.438-2431C>A)
c.*41C>A (n.*41C>A)
c.322C>A (p.Arg108Ser)
c.202C>A (p.Arg68Ser)
n.380C>A
c.547C>A (p.Arg183Ser)
 dbSNP gnomAD v3 gnomAD v4
11g.72106174C=CA1981839944LRRC51,LRTOMT,TOMTc.223C= (p.Arg75=)
c.438-2431C= (n.438-2431C=)
c.*41C= (n.*41C=)
c.322C= (p.Arg108=)
c.202C= (p.Arg68=)
n.380C=
c.547C= (p.Arg183=)
11g.72106174C>GCA381718215LRRC51,LRTOMT,TOMTc.223C>G (p.Arg75Gly)
c.438-2431C>G (n.438-2431C>G)
c.*41C>G (n.*41C>G)
c.322C>G (p.Arg108Gly)
c.202C>G (p.Arg68Gly)
n.380C>G
c.547C>G (p.Arg183Gly)
 gnomAD v4
11g.72106174C>TCA381718218LRRC51,LRTOMT,TOMTc.223C>T (p.Arg75Cys)
c.438-2431C>T (n.438-2431C>T)
c.*41C>T (n.*41C>T)
c.322C>T (p.Arg108Cys)
c.202C>T (p.Arg68Cys)
n.380C>T
c.547C>T (p.Arg183Cys)
 dbSNP gnomAD v3 gnomAD v4
11g.72106175G>ACA224374581LRRC51,LRTOMT,TOMTc.224G>A (p.Arg75His)
c.438-2430G>A (n.438-2430G>A)
c.*42G>A (n.*42G>A)
c.323G>A (p.Arg108His)
c.203G>A (p.Arg68His)
n.381G>A
c.548G>A (p.Arg183His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106175G>CCA381718222LRRC51,LRTOMT,TOMTc.224G>C (p.Arg75Pro)
c.438-2430G>C (n.438-2430G>C)
c.*42G>C (n.*42G>C)
c.323G>C (p.Arg108Pro)
c.203G>C (p.Arg68Pro)
n.381G>C
c.548G>C (p.Arg183Pro)
11g.72106175G=CA1981839945LRRC51,LRTOMT,TOMTc.224G= (p.Arg75=)
c.438-2430G= (n.438-2430G=)
c.*42G= (n.*42G=)
c.323G= (p.Arg108=)
c.203G= (p.Arg68=)
n.381G=
c.548G= (p.Arg183=)
11g.72106175G>TCA381718224LRRC51,LRTOMT,TOMTc.224G>T (p.Arg75Leu)
c.438-2430G>T (n.438-2430G>T)
c.*42G>T (n.*42G>T)
c.323G>T (p.Arg108Leu)
c.203G>T (p.Arg68Leu)
n.381G>T
c.548G>T (p.Arg183Leu)
 gnomAD v4
11g.72106176C>ACA475864922LRRC51,LRTOMT,TOMTc.225C>A (p.Arg75=)
c.438-2429C>A (n.438-2429C>A)
c.*43C>A (n.*43C>A)
c.324C>A (p.Arg108=)
c.204C>A (p.Arg68=)
n.382C>A
c.549C>A (p.Arg183=)
11g.72106176C=CA1981839946LRRC51,LRTOMT,TOMTc.225C= (p.Arg75=)
c.438-2429C= (n.438-2429C=)
c.*43C= (n.*43C=)
c.324C= (p.Arg108=)
c.204C= (p.Arg68=)
n.382C=
c.549C= (p.Arg183=)
11g.72106176C>GCA475864923LRRC51,LRTOMT,TOMTc.225C>G (p.Arg75=)
c.438-2429C>G (n.438-2429C>G)
c.*43C>G (n.*43C>G)
c.324C>G (p.Arg108=)
c.204C>G (p.Arg68=)
n.382C>G
c.549C>G (p.Arg183=)
11g.72106176C>TCA224374584LRRC51,LRTOMT,TOMTc.225C>T (p.Arg75=)
c.438-2429C>T (n.438-2429C>T)
c.*43C>T (n.*43C>T)
c.324C>T (p.Arg108=)
c.204C>T (p.Arg68=)
n.382C>T
c.549C>T (p.Arg183=)
 dbSNP gnomAD v3 gnomAD v4
11g.72106177T>ACA381718227LRRC51,LRTOMT,TOMTc.226T>A (p.Cys76Ser)
c.438-2428T>A (n.438-2428T>A)
c.*44T>A (n.*44T>A)
c.325T>A (p.Cys109Ser)
c.205T>A (p.Cys69Ser)
n.383T>A
c.550T>A (p.Cys184Ser)
11g.72106177T>CCA381718229LRRC51,LRTOMT,TOMTc.226T>C (p.Cys76Arg)
c.438-2428T>C (n.438-2428T>C)
c.*44T>C (n.*44T>C)
c.325T>C (p.Cys109Arg)
c.205T>C (p.Cys69Arg)
n.383T>C
c.550T>C (p.Cys184Arg)
11g.72106177T>GCA381718230LRRC51,LRTOMT,TOMTc.226T>G (p.Cys76Gly)
c.438-2428T>G (n.438-2428T>G)
c.*44T>G (n.*44T>G)
c.325T>G (p.Cys109Gly)
c.205T>G (p.Cys69Gly)
n.383T>G
c.550T>G (p.Cys184Gly)
11g.72106178G>ACA381718232LRRC51,LRTOMT,TOMTc.227G>A (p.Cys76Tyr)
c.438-2427G>A (n.438-2427G>A)
c.*45G>A (n.*45G>A)
c.326G>A (p.Cys109Tyr)
c.206G>A (p.Cys69Tyr)
n.384G>A
c.551G>A (p.Cys184Tyr)
 gnomAD v4
11g.72106178G>CCA381718235LRRC51,LRTOMT,TOMTc.227G>C (p.Cys76Ser)
c.438-2427G>C (n.438-2427G>C)
c.*45G>C (n.*45G>C)
c.326G>C (p.Cys109Ser)
c.206G>C (p.Cys69Ser)
n.384G>C
c.551G>C (p.Cys184Ser)
11g.72106178G>TCA381718237LRRC51,LRTOMT,TOMTc.227G>T (p.Cys76Phe)
c.438-2427G>T (n.438-2427G>T)
c.*45G>T (n.*45G>T)
c.326G>T (p.Cys109Phe)
c.206G>T (p.Cys69Phe)
n.384G>T
c.551G>T (p.Cys184Phe)
11g.72106179C>ACA381718243LRRC51,LRTOMT,TOMTc.228C>A (p.Cys76Ter)
c.438-2426C>A (n.438-2426C>A)
c.*46C>A (n.*46C>A)
c.327C>A (p.Cys109Ter)
c.207C>A (p.Cys69Ter)
n.385C>A
c.552C>A (p.Cys184Ter)
 gnomAD v4
11g.72106179C=CA1981839947LRRC51,LRTOMT,TOMTc.228C= (p.Cys76=)
c.438-2426C= (n.438-2426C=)
c.*46C= (n.*46C=)
c.327C= (p.Cys109=)
c.207C= (p.Cys69=)
n.385C=
c.552C= (p.Cys184=)
11g.72106179C>GCA381718240LRRC51,LRTOMT,TOMTc.228C>G (p.Cys76Trp)
c.438-2426C>G (n.438-2426C>G)
c.*46C>G (n.*46C>G)
c.327C>G (p.Cys109Trp)
c.207C>G (p.Cys69Trp)
n.385C>G
c.552C>G (p.Cys184Trp)
 dbSNP gnomAD v3 gnomAD v4
11g.72106179C>TCA6168589LRRC51,LRTOMT,TOMTc.228C>T (p.Cys76=)
c.438-2426C>T (n.438-2426C>T)
c.*46C>T (n.*46C>T)
c.327C>T (p.Cys109=)
c.207C>T (p.Cys69=)
n.385C>T
c.552C>T (p.Cys184=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.72106180G>ACA251498LRRC51,LRTOMT,TOMTc.229G>A (p.Glu77Lys)
c.438-2425G>A (n.438-2425G>A)
c.*47G>A (n.*47G>A)
c.328G>A (p.Glu110Lys)
c.208G>A (p.Glu70Lys)
n.386G>A
c.553G>A (p.Glu185Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106180G>CCA381718249LRRC51,LRTOMT,TOMTc.229G>C (p.Glu77Gln)
c.438-2425G>C (n.438-2425G>C)
c.*47G>C (n.*47G>C)
c.328G>C (p.Glu110Gln)
c.208G>C (p.Glu70Gln)
n.386G>C
c.553G>C (p.Glu185Gln)
 gnomAD v4
11g.72106180G=CA1981839948LRRC51,LRTOMT,TOMTc.229G= (p.Glu77=)
c.438-2425G= (n.438-2425G=)
c.*47G= (n.*47G=)
c.328G= (p.Glu110=)
c.208G= (p.Glu70=)
n.386G=
c.553G= (p.Glu185=)
11g.72106180G>TCA381718247LRRC51,LRTOMT,TOMTc.229G>T (p.Glu77Ter)
c.438-2425G>T (n.438-2425G>T)
c.*47G>T (n.*47G>T)
c.328G>T (p.Glu110Ter)
c.208G>T (p.Glu70Ter)
n.386G>T
c.553G>T (p.Glu185Ter)
 gnomAD v4
11g.72106181A>CCA381718252LRRC51,LRTOMT,TOMTc.230A>C (p.Glu77Ala)
c.438-2424A>C (n.438-2424A>C)
c.*48A>C (n.*48A>C)
c.329A>C (p.Glu110Ala)
c.209A>C (p.Glu70Ala)
n.387A>C
c.554A>C (p.Glu185Ala)
11g.72106181A>GCA381718253LRRC51,LRTOMT,TOMTc.230A>G (p.Glu77Gly)
c.438-2424A>G (n.438-2424A>G)
c.*48A>G (n.*48A>G)
c.329A>G (p.Glu110Gly)
c.209A>G (p.Glu70Gly)
n.387A>G
c.554A>G (p.Glu185Gly)
11g.72106181A>TCA381718256LRRC51,LRTOMT,TOMTc.230A>T (p.Glu77Val)
c.438-2424A>T (n.438-2424A>T)
c.*48A>T (n.*48A>T)
c.329A>T (p.Glu110Val)
c.209A>T (p.Glu70Val)
n.387A>T
c.554A>T (p.Glu185Val)
11g.72106182G>ACA475864924LRRC51,LRTOMT,TOMTc.231G>A (p.Glu77=)
c.438-2423G>A (n.438-2423G>A)
c.*49G>A (n.*49G>A)
c.330G>A (p.Glu110=)
c.210G>A (p.Glu70=)
n.388G>A
c.555G>A (p.Glu185=)
 gnomAD v4
11g.72106182G>CCA381718257LRRC51,LRTOMT,TOMTc.231G>C (p.Glu77Asp)
c.438-2423G>C (n.438-2423G>C)
c.*49G>C (n.*49G>C)
c.330G>C (p.Glu110Asp)
c.210G>C (p.Glu70Asp)
n.388G>C
c.555G>C (p.Glu185Asp)
11g.72106182G>TCA381718259LRRC51,LRTOMT,TOMTc.231G>T (p.Glu77Asp)
c.438-2423G>T (n.438-2423G>T)
c.*49G>T (n.*49G>T)
c.330G>T (p.Glu110Asp)
c.210G>T (p.Glu70Asp)
n.388G>T
c.555G>T (p.Glu185Asp)
 gnomAD v4
11g.72106183T>ACA381718261LRRC51,LRTOMT,TOMTc.232T>A (p.Tyr78Asn)
c.438-2422T>A (n.438-2422T>A)
c.*50T>A (n.*50T>A)
c.331T>A (p.Tyr111Asn)
c.211T>A (p.Tyr71Asn)
n.389T>A
c.556T>A (p.Tyr186Asn)
11g.72106183T>CCA381718263LRRC51,LRTOMT,TOMTc.232T>C (p.Tyr78His)
c.438-2422T>C (n.438-2422T>C)
c.*50T>C (n.*50T>C)
c.331T>C (p.Tyr111His)
c.211T>C (p.Tyr71His)
n.389T>C
c.556T>C (p.Tyr186His)
 dbSNP
11g.72106183T>GCA381718266LRRC51,LRTOMT,TOMTc.232T>G (p.Tyr78Asp)
c.438-2422T>G (n.438-2422T>G)
c.*50T>G (n.*50T>G)
c.331T>G (p.Tyr111Asp)
c.211T>G (p.Tyr71Asp)
n.389T>G
c.556T>G (p.Tyr186Asp)
11g.72106183T=CA1981839949LRRC51,LRTOMT,TOMTc.232T= (p.Tyr78=)
c.438-2422T= (n.438-2422T=)
c.*50T= (n.*50T=)
c.331T= (p.Tyr111=)
c.211T= (p.Tyr71=)
n.389T=
c.556T= (p.Tyr186=)
11g.72106184A>CCA381718268LRRC51,LRTOMT,TOMTc.233A>C (p.Tyr78Ser)
c.438-2421A>C (n.438-2421A>C)
c.*51A>C (n.*51A>C)
c.332A>C (p.Tyr111Ser)
c.212A>C (p.Tyr71Ser)
n.390A>C
c.557A>C (p.Tyr186Ser)
11g.72106184A>GCA381718270LRRC51,LRTOMT,TOMTc.233A>G (p.Tyr78Cys)
c.438-2421A>G (n.438-2421A>G)
c.*51A>G (n.*51A>G)
c.332A>G (p.Tyr111Cys)
c.212A>G (p.Tyr71Cys)
n.390A>G
c.557A>G (p.Tyr186Cys)
11g.72106184A>TCA381718272LRRC51,LRTOMT,TOMTc.233A>T (p.Tyr78Phe)
c.438-2421A>T (n.438-2421A>T)
c.*51A>T (n.*51A>T)
c.332A>T (p.Tyr111Phe)
c.212A>T (p.Tyr71Phe)
n.390A>T
c.557A>T (p.Tyr186Phe)
11g.72106185C>ACA381718274LRRC51,LRTOMT,TOMTc.234C>A (p.Tyr78Ter)
c.438-2420C>A (n.438-2420C>A)
c.*52C>A (n.*52C>A)
c.333C>A (p.Tyr111Ter)
c.213C>A (p.Tyr71Ter)
n.391C>A
c.558C>A (p.Tyr186Ter)
 gnomAD v4
11g.72106185C=CA1981839950LRRC51,LRTOMT,TOMTc.234C= (p.Tyr78=)
c.438-2420C= (n.438-2420C=)
c.*52C= (n.*52C=)
c.333C= (p.Tyr111=)
c.213C= (p.Tyr71=)
n.391C=
c.558C= (p.Tyr186=)
11g.72106185C>GCA251500LRRC51,LRTOMT,TOMTc.234C>G (p.Tyr78Ter)
c.438-2420C>G (n.438-2420C>G)
c.*52C>G (n.*52C>G)
c.333C>G (p.Tyr111Ter)
c.213C>G (p.Tyr71Ter)
n.391C>G
c.558C>G (p.Tyr186Ter)
 ClinVar dbSNP gnomAD v4
11g.72106185C>TCA475864925LRRC51,LRTOMT,TOMTc.234C>T (p.Tyr78=)
c.438-2420C>T (n.438-2420C>T)
c.*52C>T (n.*52C>T)
c.333C>T (p.Tyr111=)
c.213C>T (p.Tyr71=)
n.391C>T
c.558C>T (p.Tyr186=)
 gnomAD v4
11g.72106186T>ACA381718280LRRC51,LRTOMT,TOMTc.235T>A (p.Leu79Met)
c.438-2419T>A (n.438-2419T>A)
c.*53T>A (n.*53T>A)
c.334T>A (p.Leu112Met)
c.214T>A (p.Leu72Met)
n.392T>A
c.559T>A (p.Leu187Met)
11g.72106186T>CCA475864926LRRC51,LRTOMT,TOMTc.235T>C (p.Leu79=)
c.438-2419T>C (n.438-2419T>C)
c.*53T>C (n.*53T>C)
c.334T>C (p.Leu112=)
c.214T>C (p.Leu72=)
n.392T>C
c.559T>C (p.Leu187=)
 gnomAD v4
11g.72106186T>GCA381718282LRRC51,LRTOMT,TOMTc.235T>G (p.Leu79Val)
c.438-2419T>G (n.438-2419T>G)
c.*53T>G (n.*53T>G)
c.334T>G (p.Leu112Val)
c.214T>G (p.Leu72Val)
n.392T>G
c.559T>G (p.Leu187Val)
 gnomAD v4
11g.72106187T>ACA381718284LRRC51,LRTOMT,TOMTc.236T>A (p.Leu79Ter)
c.438-2418T>A (n.438-2418T>A)
c.*54T>A (n.*54T>A)
c.335T>A (p.Leu112Ter)
c.215T>A (p.Leu72Ter)
n.393T>A
c.560T>A (p.Leu187Ter)
11g.72106187T>CCA381718285LRRC51,LRTOMT,TOMTc.236T>C (p.Leu79Ser)
c.438-2418T>C (n.438-2418T>C)
c.*54T>C (n.*54T>C)
c.335T>C (p.Leu112Ser)
c.215T>C (p.Leu72Ser)
n.393T>C
c.560T>C (p.Leu187Ser)
 gnomAD v4
11g.72106187T>GCA381718286LRRC51,LRTOMT,TOMTc.236T>G (p.Leu79Trp)
c.438-2418T>G (n.438-2418T>G)
c.*54T>G (n.*54T>G)
c.335T>G (p.Leu112Trp)
c.215T>G (p.Leu72Trp)
n.393T>G
c.560T>G (p.Leu187Trp)
 dbSNP gnomAD v3 gnomAD v4
11g.72106187T=CA1981839951LRRC51,LRTOMT,TOMTc.236T= (p.Leu79=)
c.438-2418T= (n.438-2418T=)
c.*54T= (n.*54T=)
c.335T= (p.Leu112=)
c.215T= (p.Leu72=)
n.393T=
c.560T= (p.Leu187=)
11g.72106188G>ACA475864927LRRC51,LRTOMT,TOMTc.237G>A (p.Leu79=)
c.438-2417G>A (n.438-2417G>A)
c.*55G>A (n.*55G>A)
c.336G>A (p.Leu112=)
c.216G>A (p.Leu72=)
n.394G>A
c.561G>A (p.Leu187=)
 dbSNP gnomAD v4
11g.72106188G>CCA381718289LRRC51,LRTOMT,TOMTc.237G>C (p.Leu79Phe)
c.438-2417G>C (n.438-2417G>C)
c.*55G>C (n.*55G>C)
c.336G>C (p.Leu112Phe)
c.216G>C (p.Leu72Phe)
n.394G>C
c.561G>C (p.Leu187Phe)
 COSMIC
11g.72106188G=CA1981839952LRRC51,LRTOMT,TOMTc.237G= (p.Leu79=)
c.438-2417G= (n.438-2417G=)
c.*55G= (n.*55G=)
c.336G= (p.Leu112=)
c.216G= (p.Leu72=)
n.394G=
c.561G= (p.Leu187=)
11g.72106188G>TCA381718291LRRC51,LRTOMT,TOMTc.237G>T (p.Leu79Phe)
c.438-2417G>T (n.438-2417G>T)
c.*55G>T (n.*55G>T)
c.336G>T (p.Leu112Phe)
c.216G>T (p.Leu72Phe)
n.394G>T
c.561G>T (p.Leu187Phe)
 gnomAD v4
11g.72106189A>CCA381718293LRRC51,LRTOMT,TOMTc.238A>C (p.Ser80Arg)
c.438-2416A>C (n.438-2416A>C)
c.*56A>C (n.*56A>C)
c.337A>C (p.Ser113Arg)
c.217A>C (p.Ser73Arg)
n.395A>C
c.562A>C (p.Ser188Arg)
11g.72106189A>GCA381718294LRRC51,LRTOMT,TOMTc.238A>G (p.Ser80Gly)
c.438-2416A>G (n.438-2416A>G)
c.*56A>G (n.*56A>G)
c.337A>G (p.Ser113Gly)
c.217A>G (p.Ser73Gly)
n.395A>G
c.562A>G (p.Ser188Gly)
11g.72106189A>TCA381718295LRRC51,LRTOMT,TOMTc.238A>T (p.Ser80Cys)
c.438-2416A>T (n.438-2416A>T)
c.*56A>T (n.*56A>T)
c.337A>T (p.Ser113Cys)
c.217A>T (p.Ser73Cys)
n.395A>T
c.562A>T (p.Ser188Cys)
11g.72106190G>ACA381718299LRRC51,LRTOMT,TOMTc.239G>A (p.Ser80Asn)
c.438-2415G>A (n.438-2415G>A)
c.*57G>A (n.*57G>A)
c.338G>A (p.Ser113Asn)
c.218G>A (p.Ser73Asn)
n.396G>A
c.563G>A (p.Ser188Asn)
11g.72106190G>CCA381718301LRRC51,LRTOMT,TOMTc.239G>C (p.Ser80Thr)
c.438-2415G>C (n.438-2415G>C)
c.*57G>C (n.*57G>C)
c.338G>C (p.Ser113Thr)
c.218G>C (p.Ser73Thr)
n.396G>C
c.563G>C (p.Ser188Thr)
11g.72106190G>TCA381718303LRRC51,LRTOMT,TOMTc.239G>T (p.Ser80Ile)
c.438-2415G>T (n.438-2415G>T)
c.*57G>T (n.*57G>T)
c.338G>T (p.Ser113Ile)
c.218G>T (p.Ser73Ile)
n.396G>T
c.563G>T (p.Ser188Ile)
 gnomAD v4
11g.72106191C>ACA381718307LRRC51,LRTOMT,TOMTc.240C>A (p.Ser80Arg)
c.438-2414C>A (n.438-2414C>A)
c.*58C>A (n.*58C>A)
c.339C>A (p.Ser113Arg)
c.219C>A (p.Ser73Arg)
n.397C>A
c.564C>A (p.Ser188Arg)
 gnomAD v4
11g.72106191C>GCA381718306LRRC51,LRTOMT,TOMTc.240C>G (p.Ser80Arg)
c.438-2414C>G (n.438-2414C>G)
c.*58C>G (n.*58C>G)
c.339C>G (p.Ser113Arg)
c.219C>G (p.Ser73Arg)
n.397C>G
c.564C>G (p.Ser188Arg)
11g.72106191C>TCA475864928LRRC51,LRTOMT,TOMTc.240C>T (p.Ser80=)
c.438-2414C>T (n.438-2414C>T)
c.*58C>T (n.*58C>T)
c.339C>T (p.Ser113=)
c.219C>T (p.Ser73=)
n.397C>T
c.564C>T (p.Ser188=)
 gnomAD v4
11g.72106192C>ACA381718310LRRC51,LRTOMT,TOMTc.241C>A (p.His81Asn)
c.438-2413C>A (n.438-2413C>A)
c.*59C>A (n.*59C>A)
c.340C>A (p.His114Asn)
c.220C>A (p.His74Asn)
n.398C>A
c.565C>A (p.His189Asn)
 gnomAD v4
11g.72106192C=CA1981839953LRRC51,LRTOMT,TOMTc.241C= (p.His81=)
c.438-2413C= (n.438-2413C=)
c.*59C= (n.*59C=)
c.340C= (p.His114=)
c.220C= (p.His74=)
n.398C=
c.565C= (p.His189=)
11g.72106192C>GCA381718312LRRC51,LRTOMT,TOMTc.241C>G (p.His81Asp)
c.438-2413C>G (n.438-2413C>G)
c.*59C>G (n.*59C>G)
c.340C>G (p.His114Asp)
c.220C>G (p.His74Asp)
n.398C>G
c.565C>G (p.His189Asp)
11g.72106192C>TCA6168590LRRC51,LRTOMT,TOMTc.241C>T (p.His81Tyr)
c.438-2413C>T (n.438-2413C>T)
c.*59C>T (n.*59C>T)
c.340C>T (p.His114Tyr)
c.220C>T (p.His74Tyr)
n.398C>T
c.565C>T (p.His189Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106193A>CCA381718317LRRC51,LRTOMT,TOMTc.242A>C (p.His81Pro)
c.438-2412A>C (n.438-2412A>C)
c.*60A>C (n.*60A>C)
c.341A>C (p.His114Pro)
c.221A>C (p.His74Pro)
n.399A>C
c.566A>C (p.His189Pro)
11g.72106193A>GCA381718319LRRC51,LRTOMT,TOMTc.242A>G (p.His81Arg)
c.438-2412A>G (n.438-2412A>G)
c.*60A>G (n.*60A>G)
c.341A>G (p.His114Arg)
c.221A>G (p.His74Arg)
n.399A>G
c.566A>G (p.His189Arg)
11g.72106193A>TCA381718321LRRC51,LRTOMT,TOMTc.242A>T (p.His81Leu)
c.438-2412A>T (n.438-2412A>T)
c.*60A>T (n.*60A>T)
c.341A>T (p.His114Leu)
c.221A>T (p.His74Leu)
n.399A>T
c.566A>T (p.His189Leu)
11g.72106194C>ACA381718326LRRC51,LRTOMT,TOMTc.243C>A (p.His81Gln)
c.438-2411C>A (n.438-2411C>A)
c.*61C>A (n.*61C>A)
c.342C>A (p.His114Gln)
c.222C>A (p.His74Gln)
n.400C>A
c.567C>A (p.His189Gln)
11g.72106194C>GCA381718324LRRC51,LRTOMT,TOMTc.243C>G (p.His81Gln)
c.438-2411C>G (n.438-2411C>G)
c.*61C>G (n.*61C>G)
c.342C>G (p.His114Gln)
c.222C>G (p.His74Gln)
n.400C>G
c.567C>G (p.His189Gln)
11g.72106194C>TCA475864929LRRC51,LRTOMT,TOMTc.243C>T (p.His81=)
c.438-2411C>T (n.438-2411C>T)
c.*61C>T (n.*61C>T)
c.342C>T (p.His114=)
c.222C>T (p.His74=)
n.400C>T
c.567C>T (p.His189=)
11g.72106195A=CA1981839954LRRC51,LRTOMT,TOMTc.244A= (p.Met82=)
c.438-2410A= (n.438-2410A=)
c.*62A= (n.*62A=)
c.343A= (p.Met115=)
c.223A= (p.Met75=)
n.401A=
c.568A= (p.Met190=)
11g.72106195A>CCA381718329LRRC51,LRTOMT,TOMTc.244A>C (p.Met82Leu)
c.438-2410A>C (n.438-2410A>C)
c.*62A>C (n.*62A>C)
c.343A>C (p.Met115Leu)
c.223A>C (p.Met75Leu)
n.401A>C
c.568A>C (p.Met190Leu)
11g.72106195A>GCA224374596LRRC51,LRTOMT,TOMTc.244A>G (p.Met82Val)
c.438-2410A>G (n.438-2410A>G)
c.*62A>G (n.*62A>G)
c.343A>G (p.Met115Val)
c.223A>G (p.Met75Val)
n.401A>G
c.568A>G (p.Met190Val)
 dbSNP gnomAD v3 gnomAD v4
11g.72106195A>TCA381718332LRRC51,LRTOMT,TOMTc.244A>T (p.Met82Leu)
c.438-2410A>T (n.438-2410A>T)
c.*62A>T (n.*62A>T)
c.343A>T (p.Met115Leu)
c.223A>T (p.Met75Leu)
n.401A>T
c.568A>T (p.Met190Leu)
11g.72106196T>ACA381718336LRRC51,LRTOMT,TOMTc.245T>A (p.Met82Lys)
c.438-2409T>A (n.438-2409T>A)
c.*63T>A (n.*63T>A)
c.344T>A (p.Met115Lys)
c.224T>A (p.Met75Lys)
n.402T>A
c.569T>A (p.Met190Lys)
11g.72106196T>CCA381718338LRRC51,LRTOMT,TOMTc.245T>C (p.Met82Thr)
c.438-2409T>C (n.438-2409T>C)
c.*63T>C (n.*63T>C)
c.344T>C (p.Met115Thr)
c.224T>C (p.Met75Thr)
n.402T>C
c.569T>C (p.Met190Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106196T>GCA381718340LRRC51,LRTOMT,TOMTc.245T>G (p.Met82Arg)
c.438-2409T>G (n.438-2409T>G)
c.*63T>G (n.*63T>G)
c.344T>G (p.Met115Arg)
c.224T>G (p.Met75Arg)
n.402T>G
c.569T>G (p.Met190Arg)
11g.72106196T=CA1981839955LRRC51,LRTOMT,TOMTc.245T= (p.Met82=)
c.438-2409T= (n.438-2409T=)
c.*63T= (n.*63T=)
c.344T= (p.Met115=)
c.224T= (p.Met75=)
n.402T=
c.569T= (p.Met190=)
11g.72106197G>ACA224374600LRRC51,LRTOMT,TOMTc.246G>A (p.Met82Ile)
c.438-2408G>A (n.438-2408G>A)
c.*64G>A (n.*64G>A)
c.345G>A (p.Met115Ile)
c.225G>A (p.Met75Ile)
n.403G>A
c.570G>A (p.Met190Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106197G>CCA381718343LRRC51,LRTOMT,TOMTc.246G>C (p.Met82Ile)
c.438-2408G>C (n.438-2408G>C)
c.*64G>C (n.*64G>C)
c.345G>C (p.Met115Ile)
c.225G>C (p.Met75Ile)
n.403G>C
c.570G>C (p.Met190Ile)
11g.72106197G=CA1981839956LRRC51,LRTOMT,TOMTc.246G= (p.Met82=)
c.438-2408G= (n.438-2408G=)
c.*64G= (n.*64G=)
c.345G= (p.Met115=)
c.225G= (p.Met75=)
n.403G=
c.570G= (p.Met190=)
11g.72106197G>TCA381718345LRRC51,LRTOMT,TOMTc.246G>T (p.Met82Ile)
c.438-2408G>T (n.438-2408G>T)
c.*64G>T (n.*64G>T)
c.345G>T (p.Met115Ile)
c.225G>T (p.Met75Ile)
n.403G>T
c.570G>T (p.Met190Ile)
 gnomAD v4
11g.72106198G>ACA381718349LRRC51,LRTOMT,TOMTc.247G>A (p.Gly83Arg)
c.438-2407G>A (n.438-2407G>A)
c.*65G>A (n.*65G>A)
c.346G>A (p.Gly116Arg)
c.226G>A (p.Gly76Arg)
n.404G>A
c.571G>A (p.Gly191Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.72106198G>CCA381718351LRRC51,LRTOMT,TOMTc.247G>C (p.Gly83Arg)
c.438-2407G>C (n.438-2407G>C)
c.*65G>C (n.*65G>C)
c.346G>C (p.Gly116Arg)
c.226G>C (p.Gly76Arg)
n.404G>C
c.571G>C (p.Gly191Arg)
11g.72106198G=CA1981839957LRRC51,LRTOMT,TOMTc.247G= (p.Gly83=)
c.438-2407G= (n.438-2407G=)
c.*65G= (n.*65G=)
c.346G= (p.Gly116=)
c.226G= (p.Gly76=)
n.404G=
c.571G= (p.Gly191=)
11g.72106198G>TCA381718353LRRC51,LRTOMT,TOMTc.247G>T (p.Gly83Trp)
c.438-2407G>T (n.438-2407G>T)
c.*65G>T (n.*65G>T)
c.346G>T (p.Gly116Trp)
c.226G>T (p.Gly76Trp)
n.404G>T
c.571G>T (p.Gly191Trp)
 gnomAD v4
11g.72106199G>ACA381718357LRRC51,LRTOMT,TOMTc.248G>A (p.Gly83Glu)
c.438-2406G>A (n.438-2406G>A)
c.*66G>A (n.*66G>A)
c.347G>A (p.Gly116Glu)
c.227G>A (p.Gly76Glu)
n.405G>A
c.572G>A (p.Gly191Glu)
 dbSNP gnomAD v2 gnomAD v4
11g.72106199G>CCA381718358LRRC51,LRTOMT,TOMTc.248G>C (p.Gly83Ala)
c.438-2406G>C (n.438-2406G>C)
c.*66G>C (n.*66G>C)
c.347G>C (p.Gly116Ala)
c.227G>C (p.Gly76Ala)
n.405G>C
c.572G>C (p.Gly191Ala)
11g.72106199G=CA1981839958LRRC51,LRTOMT,TOMTc.248G= (p.Gly83=)
c.438-2406G= (n.438-2406G=)
c.*66G= (n.*66G=)
c.347G= (p.Gly116=)
c.227G= (p.Gly76=)
n.405G=
c.572G= (p.Gly191=)
11g.72106199G>TCA381718359LRRC51,LRTOMT,TOMTc.248G>T (p.Gly83Val)
c.438-2406G>T (n.438-2406G>T)
c.*66G>T (n.*66G>T)
c.347G>T (p.Gly116Val)
c.227G>T (p.Gly76Val)
n.405G>T
c.572G>T (p.Gly191Val)
 gnomAD v4
11g.72106200G>ACA475864930LRRC51,LRTOMT,TOMTc.249G>A (p.Gly83=)
c.438-2405G>A (n.438-2405G>A)
c.*67G>A (n.*67G>A)
c.348G>A (p.Gly116=)
c.228G>A (p.Gly76=)
n.406G>A
c.573G>A (p.Gly191=)
 dbSNP gnomAD v3 gnomAD v4
11g.72106200G>CCA475864931LRRC51,LRTOMT,TOMTc.249G>C (p.Gly83=)
c.438-2405G>C (n.438-2405G>C)
c.*67G>C (n.*67G>C)
c.348G>C (p.Gly116=)
c.228G>C (p.Gly76=)
n.406G>C
c.573G>C (p.Gly191=)
11g.72106200G=CA1981839959LRRC51,LRTOMT,TOMTc.249G= (p.Gly83=)
c.438-2405G= (n.438-2405G=)
c.*67G= (n.*67G=)
c.348G= (p.Gly116=)
c.228G= (p.Gly76=)
n.406G=
c.573G= (p.Gly191=)
11g.72106200G>TCA475864932LRRC51,LRTOMT,TOMTc.249G>T (p.Gly83=)
c.438-2405G>T (n.438-2405G>T)
c.*67G>T (n.*67G>T)
c.348G>T (p.Gly116=)
c.228G>T (p.Gly76=)
n.406G>T
c.573G>T (p.Gly191=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106201C>ACA381718360LRRC51,LRTOMT,TOMTc.250C>A (p.Pro84Thr)
c.438-2404C>A (n.438-2404C>A)
c.*68C>A (n.*68C>A)
c.349C>A (p.Pro117Thr)
c.229C>A (p.Pro77Thr)
n.407C>A
c.574C>A (p.Pro192Thr)
 gnomAD v4
11g.72106201C=CA1981839960LRRC51,LRTOMT,TOMTc.250C= (p.Pro84=)
c.438-2404C= (n.438-2404C=)
c.*68C= (n.*68C=)
c.349C= (p.Pro117=)
c.229C= (p.Pro77=)
n.407C=
c.574C= (p.Pro192=)
11g.72106201C>GCA381718361LRRC51,LRTOMT,TOMTc.250C>G (p.Pro84Ala)
c.438-2404C>G (n.438-2404C>G)
c.*68C>G (n.*68C>G)
c.349C>G (p.Pro117Ala)
c.229C>G (p.Pro77Ala)
n.407C>G
c.574C>G (p.Pro192Ala)
11g.72106201C>TCA381718362LRRC51,LRTOMT,TOMTc.250C>T (p.Pro84Ser)
c.438-2404C>T (n.438-2404C>T)
c.*68C>T (n.*68C>T)
c.349C>T (p.Pro117Ser)
c.229C>T (p.Pro77Ser)
n.407C>T
c.574C>T (p.Pro192Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.72106202C>ACA381718363LRRC51,LRTOMT,TOMTc.251C>A (p.Pro84His)
c.438-2403C>A (n.438-2403C>A)
c.*69C>A (n.*69C>A)
c.350C>A (p.Pro117His)
c.230C>A (p.Pro77His)
n.408C>A
c.575C>A (p.Pro192His)
 gnomAD v4
11g.72106202C=CA1981839961LRRC51,LRTOMT,TOMTc.251C= (p.Pro84=)
c.438-2403C= (n.438-2403C=)
c.*69C= (n.*69C=)
c.350C= (p.Pro117=)
c.230C= (p.Pro77=)
n.408C=
c.575C= (p.Pro192=)
11g.72106202C>GCA381718364LRRC51,LRTOMT,TOMTc.251C>G (p.Pro84Arg)
c.438-2403C>G (n.438-2403C>G)
c.*69C>G (n.*69C>G)
c.350C>G (p.Pro117Arg)
c.230C>G (p.Pro77Arg)
n.408C>G
c.575C>G (p.Pro192Arg)
11g.72106202C>TCA381718365LRRC51,LRTOMT,TOMTc.251C>T (p.Pro84Leu)
c.438-2403C>T (n.438-2403C>T)
c.*69C>T (n.*69C>T)
c.350C>T (p.Pro117Leu)
c.230C>T (p.Pro77Leu)
n.408C>T
c.575C>T (p.Pro192Leu)
 dbSNP gnomAD v2 gnomAD v4
11g.72106203T>ACA475864933LRRC51,LRTOMT,TOMTc.252T>A (p.Pro84=)
c.438-2402T>A (n.438-2402T>A)
c.*70T>A (n.*70T>A)
c.351T>A (p.Pro117=)
c.231T>A (p.Pro77=)
n.409T>A
c.576T>A (p.Pro192=)
11g.72106203T>CCA475864934LRRC51,LRTOMT,TOMTc.252T>C (p.Pro84=)
c.438-2402T>C (n.438-2402T>C)
c.*70T>C (n.*70T>C)
c.351T>C (p.Pro117=)
c.231T>C (p.Pro77=)
n.409T>C
c.576T>C (p.Pro192=)
 dbSNP gnomAD v3 gnomAD v4
11g.72106203T>GCA475864935LRRC51,LRTOMT,TOMTc.252T>G (p.Pro84=)
c.438-2402T>G (n.438-2402T>G)
c.*70T>G (n.*70T>G)
c.351T>G (p.Pro117=)
c.231T>G (p.Pro77=)
n.409T>G
c.576T>G (p.Pro192=)
11g.72106203T=CA1981839962LRRC51,LRTOMT,TOMTc.252T= (p.Pro84=)
c.438-2402T= (n.438-2402T=)
c.*70T= (n.*70T=)
c.351T= (p.Pro117=)
c.231T= (p.Pro77=)
n.409T=
c.576T= (p.Pro192=)
11g.72106204G>ACA133444LRRC51,LRTOMT,TOMTc.253G>A (p.Val85Ile)
c.438-2401G>A (n.438-2401G>A)
c.*71G>A (n.*71G>A)
c.352G>A (p.Val118Ile)
c.232G>A (p.Val78Ile)
n.410G>A
c.577G>A (p.Val193Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106204G>CCA381718367LRRC51,LRTOMT,TOMTc.253G>C (p.Val85Leu)
c.438-2401G>C (n.438-2401G>C)
c.*71G>C (n.*71G>C)
c.352G>C (p.Val118Leu)
c.232G>C (p.Val78Leu)
n.410G>C
c.577G>C (p.Val193Leu)
11g.72106204G=CA1981839963LRRC51,LRTOMT,TOMTc.253G= (p.Val85=)
c.438-2401G= (n.438-2401G=)
c.*71G= (n.*71G=)
c.352G= (p.Val118=)
c.232G= (p.Val78=)
n.410G=
c.577G= (p.Val193=)
11g.72106204G>TCA381718366LRRC51,LRTOMT,TOMTc.253G>T (p.Val85Phe)
c.438-2401G>T (n.438-2401G>T)
c.*71G>T (n.*71G>T)
c.352G>T (p.Val118Phe)
c.232G>T (p.Val78Phe)
n.410G>T
c.577G>T (p.Val193Phe)
 gnomAD v4
11g.72106205T>ACA381718368LRRC51,LRTOMT,TOMTc.254T>A (p.Val85Asp)
c.438-2400T>A (n.438-2400T>A)
c.*72T>A (n.*72T>A)
c.353T>A (p.Val118Asp)
c.233T>A (p.Val78Asp)
n.411T>A
c.578T>A (p.Val193Asp)
11g.72106205T>CCA381718370LRRC51,LRTOMT,TOMTc.254T>C (p.Val85Ala)
c.438-2400T>C (n.438-2400T>C)
c.*72T>C (n.*72T>C)
c.353T>C (p.Val118Ala)
c.233T>C (p.Val78Ala)
n.411T>C
c.578T>C (p.Val193Ala)
11g.72106205T>GCA381718369LRRC51,LRTOMT,TOMTc.254T>G (p.Val85Gly)
c.438-2400T>G (n.438-2400T>G)
c.*72T>G (n.*72T>G)
c.353T>G (p.Val118Gly)
c.233T>G (p.Val78Gly)
n.411T>G
c.578T>G (p.Val193Gly)
 gnomAD v4
11g.72106206C>ACA475864936LRRC51,LRTOMT,TOMTc.255C>A (p.Val85=)
c.438-2399C>A (n.438-2399C>A)
c.*73C>A (n.*73C>A)
c.354C>A (p.Val118=)
c.234C>A (p.Val78=)
n.412C>A
c.579C>A (p.Val193=)
11g.72106206C>GCA475864937LRRC51,LRTOMT,TOMTc.255C>G (p.Val85=)
c.438-2399C>G (n.438-2399C>G)
c.*73C>G (n.*73C>G)
c.354C>G (p.Val118=)
c.234C>G (p.Val78=)
n.412C>G
c.579C>G (p.Val193=)
11g.72106206C>TCA475864938LRRC51,LRTOMT,TOMTc.255C>T (p.Val85=)
c.438-2399C>T (n.438-2399C>T)
c.*73C>T (n.*73C>T)
c.354C>T (p.Val118=)
c.234C>T (p.Val78=)
n.412C>T
c.579C>T (p.Val193=)
 gnomAD v4
11g.72106207A>CCA381718373LRRC51,LRTOMT,TOMTc.256A>C (p.Lys86Gln)
c.438-2398A>C (n.438-2398A>C)
c.*74A>C (n.*74A>C)
c.355A>C (p.Lys119Gln)
c.235A>C (p.Lys79Gln)
n.413A>C
c.580A>C (p.Lys194Gln)
11g.72106207A>GCA381718377LRRC51,LRTOMT,TOMTc.256A>G (p.Lys86Glu)
c.438-2398A>G (n.438-2398A>G)
c.*74A>G (n.*74A>G)
c.355A>G (p.Lys119Glu)
c.235A>G (p.Lys79Glu)
n.413A>G
c.580A>G (p.Lys194Glu)
11g.72106207A>TCA381718375LRRC51,LRTOMT,TOMTc.256A>T (p.Lys86Ter)
c.438-2398A>T (n.438-2398A>T)
c.*74A>T (n.*74A>T)
c.355A>T (p.Lys119Ter)
c.235A>T (p.Lys79Ter)
n.413A>T
c.580A>T (p.Lys194Ter)
11g.72106208A>CCA381718380LRRC51,LRTOMT,TOMTc.257A>C (p.Lys86Thr)
c.438-2397A>C (n.438-2397A>C)
c.*75A>C (n.*75A>C)
c.356A>C (p.Lys119Thr)
c.236A>C (p.Lys79Thr)
n.414A>C
c.581A>C (p.Lys194Thr)
11g.72106208A>GCA381718382LRRC51,LRTOMT,TOMTc.257A>G (p.Lys86Arg)
c.438-2397A>G (n.438-2397A>G)
c.*75A>G (n.*75A>G)
c.356A>G (p.Lys119Arg)
c.236A>G (p.Lys79Arg)
n.414A>G
c.581A>G (p.Lys194Arg)
 gnomAD v4
11g.72106208A>TCA381718385LRRC51,LRTOMT,TOMTc.257A>T (p.Lys86Ile)
c.438-2397A>T (n.438-2397A>T)
c.*75A>T (n.*75A>T)
c.356A>T (p.Lys119Ile)
c.236A>T (p.Lys79Ile)
n.414A>T
c.581A>T (p.Lys194Ile)
11g.72106209A>CCA381718387LRRC51,LRTOMT,TOMTc.258A>C (p.Lys86Asn)
c.438-2396A>C (n.438-2396A>C)
c.*76A>C (n.*76A>C)
c.357A>C (p.Lys119Asn)
c.237A>C (p.Lys79Asn)
n.415A>C
c.582A>C (p.Lys194Asn)
11g.72106209A>GCA475864939LRRC51,LRTOMT,TOMTc.258A>G (p.Lys86=)
c.438-2396A>G (n.438-2396A>G)
c.*76A>G (n.*76A>G)
c.357A>G (p.Lys119=)
c.237A>G (p.Lys79=)
n.415A>G
c.582A>G (p.Lys194=)
11g.72106209A>TCA381718389LRRC51,LRTOMT,TOMTc.258A>T (p.Lys86Asn)
c.438-2396A>T (n.438-2396A>T)
c.*76A>T (n.*76A>T)
c.357A>T (p.Lys119Asn)
c.237A>T (p.Lys79Asn)
n.415A>T
c.582A>T (p.Lys194Asn)
11g.72106210G>ACA381718391LRRC51,LRTOMT,TOMTc.259G>A (p.Gly87Ser)
c.438-2395G>A (n.438-2395G>A)
c.*77G>A (n.*77G>A)
c.358G>A (p.Gly120Ser)
c.238G>A (p.Gly80Ser)
n.416G>A
c.583G>A (p.Gly195Ser)
 dbSNP gnomAD v3 gnomAD v4
11g.72106210G>CCA381718392LRRC51,LRTOMT,TOMTc.259G>C (p.Gly87Arg)
c.438-2395G>C (n.438-2395G>C)
c.*77G>C (n.*77G>C)
c.358G>C (p.Gly120Arg)
c.238G>C (p.Gly80Arg)
n.416G>C
c.583G>C (p.Gly195Arg)
11g.72106210G=CA1981839964LRRC51,LRTOMT,TOMTc.259G= (p.Gly87=)
c.438-2395G= (n.438-2395G=)
c.*77G= (n.*77G=)
c.358G= (p.Gly120=)
c.238G= (p.Gly80=)
n.416G=
c.583G= (p.Gly195=)
11g.72106210G>TCA381718393LRRC51,LRTOMT,TOMTc.259G>T (p.Gly87Cys)
c.438-2395G>T (n.438-2395G>T)
c.*77G>T (n.*77G>T)
c.358G>T (p.Gly120Cys)
c.238G>T (p.Gly80Cys)
n.416G>T
c.583G>T (p.Gly195Cys)
 gnomAD v4
11g.72106211G>ACA381718396LRRC51,LRTOMT,TOMTc.259+1G>A (n.259+1G>A)
c.438-2394G>A (n.438-2394G>A)
c.*77+1G>A (n.*77+1G>A)
c.358+1G>A (n.358+1G>A)
c.238+1G>A (n.238+1G>A)
n.416+1G>A
c.583+1G>A (n.583+1G>A)
 ClinVar dbSNP
11g.72106211G>CCA381718398LRRC51,LRTOMT,TOMTc.259+1G>C (n.259+1G>C)
c.438-2394G>C (n.438-2394G>C)
c.*77+1G>C (n.*77+1G>C)
c.358+1G>C (n.358+1G>C)
c.238+1G>C (n.238+1G>C)
n.416+1G>C
c.583+1G>C (n.583+1G>C)
 gnomAD v4
11g.72106211G=CA1981839965LRRC51,LRTOMT,TOMTc.259+1G= (n.259+1G=)
c.438-2394G= (n.438-2394G=)
c.*77+1G= (n.*77+1G=)
c.358+1G= (n.358+1G=)
c.238+1G= (n.238+1G=)
n.416+1G=
c.583+1G= (n.583+1G=)
11g.72106211G>TCA381718400LRRC51,LRTOMT,TOMTc.259+1G>T (n.259+1G>T)
c.438-2394G>T (n.438-2394G>T)
c.*77+1G>T (n.*77+1G>T)
c.358+1G>T (n.358+1G>T)
c.238+1G>T (n.238+1G>T)
n.416+1G>T
c.583+1G>T (n.583+1G>T)
 dbSNP gnomAD v4
11g.72106212T>ACA381718409LRRC51,LRTOMT,TOMTc.259+2T>A (n.259+2T>A)
c.438-2393T>A (n.438-2393T>A)
c.*77+2T>A (n.*77+2T>A)
c.358+2T>A (n.358+2T>A)
c.238+2T>A (n.238+2T>A)
n.416+2T>A
c.583+2T>A (n.583+2T>A)
11g.72106212T>CCA381718406LRRC51,LRTOMT,TOMTc.259+2T>C (n.259+2T>C)
c.438-2393T>C (n.438-2393T>C)
c.*77+2T>C (n.*77+2T>C)
c.358+2T>C (n.358+2T>C)
c.238+2T>C (n.238+2T>C)
n.416+2T>C
c.583+2T>C (n.583+2T>C)
11g.72106212T>GCA381718404LRRC51,LRTOMT,TOMTc.259+2T>G (n.259+2T>G)
c.438-2393T>G (n.438-2393T>G)
c.*77+2T>G (n.*77+2T>G)
c.358+2T>G (n.358+2T>G)
c.238+2T>G (n.238+2T>G)
n.416+2T>G
c.583+2T>G (n.583+2T>G)
11g.72106213C>ACA2614917799LRRC51,LRTOMT,TOMTc.259+3C>A (n.259+3C>A)
c.438-2392C>A (n.438-2392C>A)
c.*77+3C>A (n.*77+3C>A)
c.358+3C>A (n.358+3C>A)
c.238+3C>A (n.238+3C>A)
n.416+3C>A
c.583+3C>A (n.583+3C>A)
 gnomAD v4
11g.72106214A=CA1981839966LRRC51,LRTOMT,TOMTc.259+4A= (n.259+4A=)
c.438-2391A= (n.438-2391A=)
c.*77+4A= (n.*77+4A=)
c.358+4A= (n.358+4A=)
c.238+4A= (n.238+4A=)
n.416+4A=
c.583+4A= (n.583+4A=)
11g.72106214A>CCA273655LRRC51,LRTOMT,TOMTc.259+4A>C (n.259+4A>C)
c.438-2391A>C (n.438-2391A>C)
c.*77+4A>C (n.*77+4A>C)
c.358+4A>C (n.358+4A>C)
c.238+4A>C (n.238+4A>C)
n.416+4A>C
c.583+4A>C (n.583+4A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106214A>GCA2614917804LRRC51,LRTOMT,TOMTc.259+4A>G (n.259+4A>G)
c.438-2391A>G (n.438-2391A>G)
c.*77+4A>G (n.*77+4A>G)
c.358+4A>G (n.358+4A>G)
c.238+4A>G (n.238+4A>G)
n.416+4A>G
c.583+4A>G (n.583+4A>G)
 gnomAD v4
11g.72106215G>ACA2614917805LRRC51,LRTOMT,TOMTc.259+5G>A (n.259+5G>A)
c.438-2390G>A (n.438-2390G>A)
c.*77+5G>A (n.*77+5G>A)
c.358+5G>A (n.358+5G>A)
c.238+5G>A (n.238+5G>A)
n.416+5G>A
c.583+5G>A (n.583+5G>A)
 gnomAD v4
11g.72106215G>CCA2513626747LRRC51,LRTOMT,TOMTc.259+5G>C (n.259+5G>C)
c.438-2390G>C (n.438-2390G>C)
c.*77+5G>C (n.*77+5G>C)
c.358+5G>C (n.358+5G>C)
c.238+5G>C (n.238+5G>C)
n.416+5G>C
c.583+5G>C (n.583+5G>C)
 gnomAD v4
11g.72106215G>TCA2614917806LRRC51,LRTOMT,TOMTc.259+5G>T (n.259+5G>T)
c.438-2390G>T (n.438-2390G>T)
c.*77+5G>T (n.*77+5G>T)
c.358+5G>T (n.358+5G>T)
c.238+5G>T (n.238+5G>T)
n.416+5G>T
c.583+5G>T (n.583+5G>T)
 gnomAD v4
11g.72106216T>CCA2614917808LRRC51,LRTOMT,TOMTc.259+6T>C (n.259+6T>C)
c.438-2389T>C (n.438-2389T>C)
c.*77+6T>C (n.*77+6T>C)
c.358+6T>C (n.358+6T>C)
c.238+6T>C (n.238+6T>C)
n.416+6T>C
c.583+6T>C (n.583+6T>C)
 gnomAD v4
11g.72106217G>TCA2614917812LRRC51,LRTOMT,TOMTc.259+7G>T (n.259+7G>T)
c.438-2388G>T (n.438-2388G>T)
c.*77+7G>T (n.*77+7G>T)
c.358+7G>T (n.358+7G>T)
c.238+7G>T (n.238+7G>T)
n.416+7G>T
c.583+7G>T (n.583+7G>T)
 gnomAD v4
11g.72106217dupCA2614917810LRRC51,LRTOMT,TOMTc.259+7dup (n.259+7dup)
c.438-2388dup (n.438-2388dup)
c.*77+7dup (n.*77+7dup)
c.358+7dup (n.358+7dup)
c.238+7dup (n.238+7dup)
n.416+7dup
c.583+7dup (n.583+7dup)
 gnomAD v4
11g.72106220C>ACA224374611LRRC51,LRTOMT,TOMTc.259+10C>A (n.259+10C>A)
c.438-2385C>A (n.438-2385C>A)
c.*77+10C>A (n.*77+10C>A)
c.358+10C>A (n.358+10C>A)
c.238+10C>A (n.238+10C>A)
n.416+10C>A
c.583+10C>A (n.583+10C>A)
 dbSNP gnomAD v2 gnomAD v4
11g.72106220C=CA1981839967LRRC51,LRTOMT,TOMTc.259+10C= (n.259+10C=)
c.438-2385C= (n.438-2385C=)
c.*77+10C= (n.*77+10C=)
c.358+10C= (n.358+10C=)
c.238+10C= (n.238+10C=)
n.416+10C=
c.583+10C= (n.583+10C=)
11g.72106220C>GCA600075423LRRC51,LRTOMT,TOMTc.259+10C>G (n.259+10C>G)
c.438-2385C>G (n.438-2385C>G)
c.*77+10C>G (n.*77+10C>G)
c.358+10C>G (n.358+10C>G)
c.238+10C>G (n.238+10C>G)
n.416+10C>G
c.583+10C>G (n.583+10C>G)
 dbSNP gnomAD v2 gnomAD v4
11g.72106220C>TCA679968418LRRC51,LRTOMT,TOMTc.259+10C>T (n.259+10C>T)
c.438-2385C>T (n.438-2385C>T)
c.*77+10C>T (n.*77+10C>T)
c.358+10C>T (n.358+10C>T)
c.238+10C>T (n.238+10C>T)
n.416+10C>T
c.583+10C>T (n.583+10C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.72106221C>ACA2614917816LRRC51,LRTOMT,TOMTc.259+11C>A (n.259+11C>A)
c.438-2384C>A (n.438-2384C>A)
c.*77+11C>A (n.*77+11C>A)
c.358+11C>A (n.358+11C>A)
c.238+11C>A (n.238+11C>A)
n.416+11C>A
c.583+11C>A (n.583+11C>A)
 gnomAD v4
11g.72106221C>TCA2792640854LRRC51,LRTOMT,TOMTc.259+11C>T (n.259+11C>T)
c.438-2384C>T (n.438-2384C>T)
c.*77+11C>T (n.*77+11C>T)
c.358+11C>T (n.358+11C>T)
c.238+11C>T (n.238+11C>T)
n.416+11C>T
c.583+11C>T (n.583+11C>T)
11g.72106222C>ACA2614917819LRRC51,LRTOMT,TOMTc.259+12C>A (n.259+12C>A)
c.438-2383C>A (n.438-2383C>A)
c.*77+12C>A (n.*77+12C>A)
c.358+12C>A (n.358+12C>A)
c.238+12C>A (n.238+12C>A)
n.416+12C>A
c.583+12C>A (n.583+12C>A)
 gnomAD v4
11g.72106222C>TCA2574912017LRRC51,LRTOMT,TOMTc.259+12C>T (n.259+12C>T)
c.438-2383C>T (n.438-2383C>T)
c.*77+12C>T (n.*77+12C>T)
c.358+12C>T (n.358+12C>T)
c.238+12C>T (n.238+12C>T)
n.416+12C>T
c.583+12C>T (n.583+12C>T)
11g.72106223T>CCA224374614LRRC51,LRTOMT,TOMTc.259+13T>C (n.259+13T>C)
c.438-2382T>C (n.438-2382T>C)
c.*77+13T>C (n.*77+13T>C)
c.358+13T>C (n.358+13T>C)
c.238+13T>C (n.238+13T>C)
n.416+13T>C
c.583+13T>C (n.583+13T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106223T=CA1981839968LRRC51,LRTOMT,TOMTc.259+13T= (n.259+13T=)
c.438-2382T= (n.438-2382T=)
c.*77+13T= (n.*77+13T=)
c.358+13T= (n.358+13T=)
c.238+13T= (n.238+13T=)
n.416+13T=
c.583+13T= (n.583+13T=)
11g.72106225G>ACA2614917822LRRC51,LRTOMT,TOMTc.259+15G>A (n.259+15G>A)
c.438-2380G>A (n.438-2380G>A)
c.*77+15G>A (n.*77+15G>A)
c.358+15G>A (n.358+15G>A)
c.238+15G>A (n.238+15G>A)
n.416+15G>A
c.583+15G>A (n.583+15G>A)
 gnomAD v4
11g.72106225G>CCA2614917824LRRC51,LRTOMT,TOMTc.259+15G>C (n.259+15G>C)
c.438-2380G>C (n.438-2380G>C)
c.*77+15G>C (n.*77+15G>C)
c.358+15G>C (n.358+15G>C)
c.238+15G>C (n.238+15G>C)
n.416+15G>C
c.583+15G>C (n.583+15G>C)
 gnomAD v4
11g.72106225G>TCA2614917823LRRC51,LRTOMT,TOMTc.259+15G>T (n.259+15G>T)
c.438-2380G>T (n.438-2380G>T)
c.*77+15G>T (n.*77+15G>T)
c.358+15G>T (n.358+15G>T)
c.238+15G>T (n.238+15G>T)
n.416+15G>T
c.583+15G>T (n.583+15G>T)
 gnomAD v4
11g.72106226C>ACA600075426LRRC51,LRTOMT,TOMTc.259+16C>A (n.259+16C>A)
c.438-2379C>A (n.438-2379C>A)
c.*77+16C>A (n.*77+16C>A)
c.358+16C>A (n.358+16C>A)
c.238+16C>A (n.238+16C>A)
n.416+16C>A
c.583+16C>A (n.583+16C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106226C=CA1981839969LRRC51,LRTOMT,TOMTc.259+16C= (n.259+16C=)
c.438-2379C= (n.438-2379C=)
c.*77+16C= (n.*77+16C=)
c.358+16C= (n.358+16C=)
c.238+16C= (n.238+16C=)
n.416+16C=
c.583+16C= (n.583+16C=)
11g.72106226C>TCA600075429LRRC51,LRTOMT,TOMTc.259+16C>T (n.259+16C>T)
c.438-2379C>T (n.438-2379C>T)
c.*77+16C>T (n.*77+16C>T)
c.358+16C>T (n.358+16C>T)
c.238+16C>T (n.238+16C>T)
n.416+16C>T
c.583+16C>T (n.583+16C>T)
 dbSNP gnomAD v2
11g.72106228T>ACA2614917827LRRC51,LRTOMT,TOMTc.259+18T>A (n.259+18T>A)
c.438-2377T>A (n.438-2377T>A)
c.*77+18T>A (n.*77+18T>A)
c.358+18T>A (n.358+18T>A)
c.238+18T>A (n.238+18T>A)
n.416+18T>A
c.583+18T>A (n.583+18T>A)
 gnomAD v4
11g.72106228T>GCA2563863780LRRC51,LRTOMT,TOMTc.259+18T>G (n.259+18T>G)
c.438-2377T>G (n.438-2377T>G)
c.*77+18T>G (n.*77+18T>G)
c.358+18T>G (n.358+18T>G)
c.238+18T>G (n.238+18T>G)
n.416+18T>G
c.583+18T>G (n.583+18T>G)
 gnomAD v4

Number of alleles fetched