Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.72106065C>ACA381717592LRRC51,LRTOMT,TOMTc.114C>A (p.Asp38Glu)
c.438-2540C>A (n.438-2540C>A)
c.82C>A (p.Leu28Met)
c.213C>A (p.Asp71Glu)
c.93C>A (p.Asp31Glu)
c.616C>A (p.Leu206Met)
n.271C>A
c.496C>A (p.Leu166Met)
c.438C>A (p.Asp146Glu)
11g.72106065C>GCA381717594LRRC51,LRTOMT,TOMTc.114C>G (p.Asp38Glu)
c.438-2540C>G (n.438-2540C>G)
c.82C>G (p.Leu28Val)
c.213C>G (p.Asp71Glu)
c.93C>G (p.Asp31Glu)
c.616C>G (p.Leu206Val)
n.271C>G
c.496C>G (p.Leu166Val)
c.438C>G (p.Asp146Glu)
11g.72106065C>TCA475864843LRRC51,LRTOMT,TOMTc.114C>T (p.Asp38=)
c.438-2540C>T (n.438-2540C>T)
c.82C>T (p.Leu28=)
c.213C>T (p.Asp71=)
c.93C>T (p.Asp31=)
c.616C>T (p.Leu206=)
n.271C>T
c.496C>T (p.Leu166=)
c.438C>T (p.Asp146=)
 gnomAD v4
11g.72106068_72106071delCA645593695LRRC51,LRTOMT,TOMTc.117_120del (p.Leu40GlnfsTer?)
c.438-2537_438-2534del (n.438-2537_438-2534del)
c.85_88del (p.Pro29SerfsTer?)
c.216_219del (p.Leu73GlnfsTer?)
c.96_99del (p.Leu33GlnfsTer?)
c.619_622del (p.Pro207SerfsTer?)
n.274_277del
c.499_502del (p.Pro167SerfsTer?)
c.441_444del (p.Leu148GlnfsTer?)
 COSMIC
11g.72106066T>ACA381717601LRRC51,LRTOMT,TOMTc.115T>A (p.Cys39Ser)
c.438-2539T>A (n.438-2539T>A)
c.83T>A (p.Leu28Gln)
c.214T>A (p.Cys72Ser)
c.94T>A (p.Cys32Ser)
c.617T>A (p.Leu206Gln)
n.272T>A
c.497T>A (p.Leu166Gln)
c.439T>A (p.Cys147Ser)
11g.72106066T>CCA381717599LRRC51,LRTOMT,TOMTc.115T>C (p.Cys39Arg)
c.438-2539T>C (n.438-2539T>C)
c.83T>C (p.Leu28Pro)
c.214T>C (p.Cys72Arg)
c.94T>C (p.Cys32Arg)
c.617T>C (p.Leu206Pro)
n.272T>C
c.497T>C (p.Leu166Pro)
c.439T>C (p.Cys147Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.72106066T>GCA381717597LRRC51,LRTOMT,TOMTc.115T>G (p.Cys39Gly)
c.438-2539T>G (n.438-2539T>G)
c.83T>G (p.Leu28Arg)
c.214T>G (p.Cys72Gly)
c.94T>G (p.Cys32Gly)
c.617T>G (p.Leu206Arg)
n.272T>G
c.497T>G (p.Leu166Arg)
c.439T>G (p.Cys147Gly)
11g.72106066T=CA1981839896LRRC51,LRTOMT,TOMTc.115T= (p.Cys39=)
c.438-2539T= (n.438-2539T=)
c.83T= (p.Leu28=)
c.214T= (p.Cys72=)
c.94T= (p.Cys32=)
c.617T= (p.Leu206=)
n.272T=
c.497T= (p.Leu166=)
c.439T= (p.Cys147=)
11g.72106067G>ACA6168578LRRC51,LRTOMT,TOMTc.116G>A (p.Cys39Tyr)
c.438-2538G>A (n.438-2538G>A)
c.84G>A (p.Leu28=)
c.215G>A (p.Cys72Tyr)
c.95G>A (p.Cys32Tyr)
c.618G>A (p.Leu206=)
n.273G>A
c.498G>A (p.Leu166=)
c.440G>A (p.Cys147Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106067G>CCA381717604LRRC51,LRTOMT,TOMTc.116G>C (p.Cys39Ser)
c.438-2538G>C (n.438-2538G>C)
c.84G>C (p.Leu28=)
c.215G>C (p.Cys72Ser)
c.95G>C (p.Cys32Ser)
c.618G>C (p.Leu206=)
n.273G>C
c.498G>C (p.Leu166=)
c.440G>C (p.Cys147Ser)
11g.72106067G=CA1981839897LRRC51,LRTOMT,TOMTc.116G= (p.Cys39=)
c.438-2538G= (n.438-2538G=)
c.84G= (p.Leu28=)
c.215G= (p.Cys72=)
c.95G= (p.Cys32=)
c.618G= (p.Leu206=)
n.273G=
c.498G= (p.Leu166=)
c.440G= (p.Cys147=)
11g.72106067G>TCA381717606LRRC51,LRTOMT,TOMTc.116G>T (p.Cys39Phe)
c.438-2538G>T (n.438-2538G>T)
c.84G>T (p.Leu28=)
c.215G>T (p.Cys72Phe)
c.95G>T (p.Cys32Phe)
c.618G>T (p.Leu206=)
n.273G>T
c.498G>T (p.Leu166=)
c.440G>T (p.Cys147Phe)
 dbSNP gnomAD v4
11g.72106068C>ACA381717610LRRC51,LRTOMT,TOMTc.117C>A (p.Cys39Ter)
c.438-2537C>A (n.438-2537C>A)
c.85C>A (p.Pro29Thr)
c.216C>A (p.Cys72Ter)
c.96C>A (p.Cys32Ter)
c.619C>A (p.Pro207Thr)
n.274C>A
c.499C>A (p.Pro167Thr)
c.441C>A (p.Cys147Ter)
11g.72106068C>GCA381717611LRRC51,LRTOMT,TOMTc.117C>G (p.Cys39Trp)
c.438-2537C>G (n.438-2537C>G)
c.85C>G (p.Pro29Ala)
c.216C>G (p.Cys72Trp)
c.96C>G (p.Cys32Trp)
c.619C>G (p.Pro207Ala)
n.274C>G
c.499C>G (p.Pro167Ala)
c.441C>G (p.Cys147Trp)
11g.72106068C>TCA475864844LRRC51,LRTOMT,TOMTc.117C>T (p.Cys39=)
c.438-2537C>T (n.438-2537C>T)
c.85C>T (p.Pro29Ser)
c.216C>T (p.Cys72=)
c.96C>T (p.Cys32=)
c.619C>T (p.Pro207Ser)
n.274C>T
c.499C>T (p.Pro167Ser)
c.441C>T (p.Cys147=)
11g.72106069C>ACA381717614LRRC51,LRTOMT,TOMTc.118C>A (p.Leu40Met)
c.438-2536C>A (n.438-2536C>A)
c.86C>A (p.Pro29His)
c.217C>A (p.Leu73Met)
c.97C>A (p.Leu33Met)
c.620C>A (p.Pro207His)
n.275C>A
c.500C>A (p.Pro167His)
c.442C>A (p.Leu148Met)
 gnomAD v4
11g.72106069C>GCA381717615LRRC51,LRTOMT,TOMTc.118C>G (p.Leu40Val)
c.438-2536C>G (n.438-2536C>G)
c.86C>G (p.Pro29Arg)
c.217C>G (p.Leu73Val)
c.97C>G (p.Leu33Val)
c.620C>G (p.Pro207Arg)
n.275C>G
c.500C>G (p.Pro167Arg)
c.442C>G (p.Leu148Val)
11g.72106069C>TCA475864845LRRC51,LRTOMT,TOMTc.118C>T (p.Leu40=)
c.438-2536C>T (n.438-2536C>T)
c.86C>T (p.Pro29Leu)
c.217C>T (p.Leu73=)
c.97C>T (p.Leu33=)
c.620C>T (p.Pro207Leu)
n.275C>T
c.500C>T (p.Pro167Leu)
c.442C>T (p.Leu148=)
11g.72106070T>ACA381717618LRRC51,LRTOMT,TOMTc.119T>A (p.Leu40Gln)
c.438-2535T>A (n.438-2535T>A)
c.87T>A (p.Pro29=)
c.218T>A (p.Leu73Gln)
c.98T>A (p.Leu33Gln)
c.621T>A (p.Pro207=)
n.276T>A
c.501T>A (p.Pro167=)
c.443T>A (p.Leu148Gln)
11g.72106070T>CCA381717620LRRC51,LRTOMT,TOMTc.119T>C (p.Leu40Pro)
c.438-2535T>C (n.438-2535T>C)
c.87T>C (p.Pro29=)
c.218T>C (p.Leu73Pro)
c.98T>C (p.Leu33Pro)
c.621T>C (p.Pro207=)
n.276T>C
c.501T>C (p.Pro167=)
c.443T>C (p.Leu148Pro)
 gnomAD v4
11g.72106070T>GCA381717621LRRC51,LRTOMT,TOMTc.119T>G (p.Leu40Arg)
c.438-2535T>G (n.438-2535T>G)
c.87T>G (p.Pro29=)
c.218T>G (p.Leu73Arg)
c.98T>G (p.Leu33Arg)
c.621T>G (p.Pro207=)
n.276T>G
c.501T>G (p.Pro167=)
c.443T>G (p.Leu148Arg)
11g.72106071G>ACA475864846LRRC51,LRTOMT,TOMTc.120G>A (p.Leu40=)
c.438-2534G>A (n.438-2534G>A)
c.88G>A (p.Val30Ile)
c.219G>A (p.Leu73=)
c.99G>A (p.Leu33=)
c.622G>A (p.Val208Ile)
n.277G>A
c.502G>A (p.Val168Ile)
c.444G>A (p.Leu148=)
 dbSNP gnomAD v2 gnomAD v4
11g.72106071G>CCA475864847LRRC51,LRTOMT,TOMTc.120G>C (p.Leu40=)
c.438-2534G>C (n.438-2534G>C)
c.88G>C (p.Val30Leu)
c.219G>C (p.Leu73=)
c.99G>C (p.Leu33=)
c.622G>C (p.Val208Leu)
n.277G>C
c.502G>C (p.Val168Leu)
c.444G>C (p.Leu148=)
 gnomAD v4
11g.72106071G=CA1981839898LRRC51,LRTOMT,TOMTc.120G= (p.Leu40=)
c.438-2534G= (n.438-2534G=)
c.88G= (p.Val30=)
c.219G= (p.Leu73=)
c.99G= (p.Leu33=)
c.622G= (p.Val208=)
n.277G=
c.502G= (p.Val168=)
c.444G= (p.Leu148=)
11g.72106071G>TCA475864848LRRC51,LRTOMT,TOMTc.120G>T (p.Leu40=)
c.438-2534G>T (n.438-2534G>T)
c.88G>T (p.Val30Phe)
c.219G>T (p.Leu73=)
c.99G>T (p.Leu33=)
c.622G>T (p.Val208Phe)
n.277G>T
c.502G>T (p.Val168Phe)
c.444G>T (p.Leu148=)
11g.72106072T>ACA381717624LRRC51,LRTOMT,TOMTc.121T>A (p.Ser41Thr)
c.438-2533T>A (n.438-2533T>A)
c.89T>A (p.Val30Asp)
c.220T>A (p.Ser74Thr)
c.100T>A (p.Ser34Thr)
c.623T>A (p.Val208Asp)
n.278T>A
c.503T>A (p.Val168Asp)
c.445T>A (p.Ser149Thr)
11g.72106072T>CCA381717627LRRC51,LRTOMT,TOMTc.121T>C (p.Ser41Pro)
c.438-2533T>C (n.438-2533T>C)
c.89T>C (p.Val30Ala)
c.220T>C (p.Ser74Pro)
c.100T>C (p.Ser34Pro)
c.623T>C (p.Val208Ala)
n.278T>C
c.503T>C (p.Val168Ala)
c.445T>C (p.Ser149Pro)
11g.72106072T>GCA381717625LRRC51,LRTOMT,TOMTc.121T>G (p.Ser41Ala)
c.438-2533T>G (n.438-2533T>G)
c.89T>G (p.Val30Gly)
c.220T>G (p.Ser74Ala)
c.100T>G (p.Ser34Ala)
c.623T>G (p.Val208Gly)
n.278T>G
c.503T>G (p.Val168Gly)
c.445T>G (p.Ser149Ala)
11g.72106073C>ACA381717630LRRC51,LRTOMT,TOMTc.122C>A (p.Ser41Ter)
c.438-2532C>A (n.438-2532C>A)
c.90C>A (p.Val30=)
c.221C>A (p.Ser74Ter)
c.101C>A (p.Ser34Ter)
c.624C>A (p.Val208=)
n.279C>A
c.504C>A (p.Val168=)
c.446C>A (p.Ser149Ter)
11g.72106073C>GCA381717632LRRC51,LRTOMT,TOMTc.122C>G (p.Ser41Ter)
c.438-2532C>G (n.438-2532C>G)
c.90C>G (p.Val30=)
c.221C>G (p.Ser74Ter)
c.101C>G (p.Ser34Ter)
c.624C>G (p.Val208=)
n.279C>G
c.504C>G (p.Val168=)
c.446C>G (p.Ser149Ter)
 gnomAD v4
11g.72106073C>TCA381717633LRRC51,LRTOMT,TOMTc.122C>T (p.Ser41Leu)
c.438-2532C>T (n.438-2532C>T)
c.90C>T (p.Val30=)
c.221C>T (p.Ser74Leu)
c.101C>T (p.Ser34Leu)
c.624C>T (p.Val208=)
n.279C>T
c.504C>T (p.Val168=)
c.446C>T (p.Ser149Leu)
 gnomAD v4
11g.72106074A=CA1981839899LRRC51,LRTOMT,TOMTc.123A= (p.Ser41=)
c.438-2531A= (n.438-2531A=)
c.91A= (p.Arg31=)
c.222A= (p.Ser74=)
c.102A= (p.Ser34=)
c.625A= (p.Arg209=)
n.280A=
c.505A= (p.Arg169=)
c.447A= (p.Ser149=)
11g.72106074A>CCA475864850LRRC51,LRTOMT,TOMTc.123A>C (p.Ser41=)
c.438-2531A>C (n.438-2531A>C)
c.91A>C (p.Arg31=)
c.222A>C (p.Ser74=)
c.102A>C (p.Ser34=)
c.625A>C (p.Arg209=)
n.280A>C
c.505A>C (p.Arg169=)
c.447A>C (p.Ser149=)
 gnomAD v4
11g.72106074A>GCA133442LRRC51,LRTOMT,TOMTc.123A>G (p.Ser41=)
c.438-2531A>G (n.438-2531A>G)
c.91A>G (p.Arg31Gly)
c.222A>G (p.Ser74=)
c.102A>G (p.Ser34=)
c.625A>G (p.Arg209Gly)
n.280A>G
c.505A>G (p.Arg169Gly)
c.447A>G (p.Ser149=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106074A>TCA475864849LRRC51,LRTOMT,TOMTc.123A>T (p.Ser41=)
c.438-2531A>T (n.438-2531A>T)
c.91A>T (p.Arg31Trp)
c.222A>T (p.Ser74=)
c.102A>T (p.Ser34=)
c.625A>T (p.Arg209Trp)
n.280A>T
c.505A>T (p.Arg169Trp)
c.447A>T (p.Ser149=)
11g.72106075G>ACA381717640LRRC51,LRTOMT,TOMTc.124G>A (p.Gly42Arg)
c.438-2530G>A (n.438-2530G>A)
c.92G>A (p.Arg31Lys)
c.223G>A (p.Gly75Arg)
c.103G>A (p.Gly35Arg)
c.626G>A (p.Arg209Lys)
n.281G>A
c.506G>A (p.Arg169Lys)
c.448G>A (p.Gly150Arg)
11g.72106075G>CCA381717643LRRC51,LRTOMT,TOMTc.124G>C (p.Gly42Arg)
c.438-2530G>C (n.438-2530G>C)
c.92G>C (p.Arg31Thr)
c.223G>C (p.Gly75Arg)
c.103G>C (p.Gly35Arg)
c.626G>C (p.Arg209Thr)
n.281G>C
c.506G>C (p.Arg169Thr)
c.448G>C (p.Gly150Arg)
11g.72106075G>TCA381717641LRRC51,LRTOMT,TOMTc.124G>T (p.Gly42Trp)
c.438-2530G>T (n.438-2530G>T)
c.92G>T (p.Arg31Met)
c.223G>T (p.Gly75Trp)
c.103G>T (p.Gly35Trp)
c.626G>T (p.Arg209Met)
n.281G>T
c.506G>T (p.Arg169Met)
c.448G>T (p.Gly150Trp)
11g.72106076G>ACA381717645LRRC51,LRTOMT,TOMTc.125G>A (p.Gly42Glu)
c.438-2529G>A (n.438-2529G>A)
c.93G>A (p.Arg31=)
c.224G>A (p.Gly75Glu)
c.104G>A (p.Gly35Glu)
c.627G>A (p.Arg209=)
n.282G>A
c.507G>A (p.Arg169=)
c.449G>A (p.Gly150Glu)
11g.72106076G>CCA381717647LRRC51,LRTOMT,TOMTc.125G>C (p.Gly42Ala)
c.438-2529G>C (n.438-2529G>C)
c.93G>C (p.Arg31Ser)
c.224G>C (p.Gly75Ala)
c.104G>C (p.Gly35Ala)
c.627G>C (p.Arg209Ser)
n.282G>C
c.507G>C (p.Arg169Ser)
c.449G>C (p.Gly150Ala)
 dbSNP gnomAD v3 gnomAD v4
11g.72106076G=CA1981839900LRRC51,LRTOMT,TOMTc.125G= (p.Gly42=)
c.438-2529G= (n.438-2529G=)
c.93G= (p.Arg31=)
c.224G= (p.Gly75=)
c.104G= (p.Gly35=)
c.627G= (p.Arg209=)
n.282G=
c.507G= (p.Arg169=)
c.449G= (p.Gly150=)
11g.72106076G>TCA381717649LRRC51,LRTOMT,TOMTc.125G>T (p.Gly42Val)
c.438-2529G>T (n.438-2529G>T)
c.93G>T (p.Arg31Ser)
c.224G>T (p.Gly75Val)
c.104G>T (p.Gly35Val)
c.627G>T (p.Arg209Ser)
n.282G>T
c.507G>T (p.Arg169Ser)
c.449G>T (p.Gly150Val)
11g.72106077G>ACA475864851LRRC51,LRTOMT,TOMTc.126G>A (p.Gly42=)
c.438-2528G>A (n.438-2528G>A)
c.94G>A (p.Ala32Thr)
c.225G>A (p.Gly75=)
c.105G>A (p.Gly35=)
c.628G>A (p.Ala210Thr)
n.283G>A
c.508G>A (p.Ala170Thr)
c.450G>A (p.Gly150=)
11g.72106077G>CCA475864852LRRC51,LRTOMT,TOMTc.126G>C (p.Gly42=)
c.438-2528G>C (n.438-2528G>C)
c.94G>C (p.Ala32Pro)
c.225G>C (p.Gly75=)
c.105G>C (p.Gly35=)
c.628G>C (p.Ala210Pro)
n.283G>C
c.508G>C (p.Ala170Pro)
c.450G>C (p.Gly150=)
11g.72106077G>TCA475864853LRRC51,LRTOMT,TOMTc.126G>T (p.Gly42=)
c.438-2528G>T (n.438-2528G>T)
c.94G>T (p.Ala32Ser)
c.225G>T (p.Gly75=)
c.105G>T (p.Gly35=)
c.628G>T (p.Ala210Ser)
n.283G>T
c.508G>T (p.Ala170Ser)
c.450G>T (p.Gly150=)
 gnomAD v4
11g.72106078C>ACA381717652LRRC51,LRTOMT,TOMTc.127C>A (p.Leu43Met)
c.438-2527C>A (n.438-2527C>A)
c.95C>A (p.Ala32Asp)
c.226C>A (p.Leu76Met)
c.106C>A (p.Leu36Met)
c.629C>A (p.Ala210Asp)
n.284C>A
c.509C>A (p.Ala170Asp)
c.451C>A (p.Leu151Met)
11g.72106078C>GCA381717654LRRC51,LRTOMT,TOMTc.127C>G (p.Leu43Val)
c.438-2527C>G (n.438-2527C>G)
c.95C>G (p.Ala32Gly)
c.226C>G (p.Leu76Val)
c.106C>G (p.Leu36Val)
c.629C>G (p.Ala210Gly)
n.284C>G
c.509C>G (p.Ala170Gly)
c.451C>G (p.Leu151Val)
11g.72106078C>TCA475864854LRRC51,LRTOMT,TOMTc.127C>T (p.Leu43=)
c.438-2527C>T (n.438-2527C>T)
c.95C>T (p.Ala32Val)
c.226C>T (p.Leu76=)
c.106C>T (p.Leu36=)
c.629C>T (p.Ala210Val)
n.284C>T
c.509C>T (p.Ala170Val)
c.451C>T (p.Leu151=)
11g.72106079T>ACA381717655LRRC51,LRTOMT,TOMTc.128T>A (p.Leu43Gln)
c.438-2526T>A (n.438-2526T>A)
c.96T>A (p.Ala32=)
c.227T>A (p.Leu76Gln)
c.107T>A (p.Leu36Gln)
c.630T>A (p.Ala210=)
n.285T>A
c.510T>A (p.Ala170=)
c.452T>A (p.Leu151Gln)
11g.72106079T>CCA381717658LRRC51,LRTOMT,TOMTc.128T>C (p.Leu43Pro)
c.438-2526T>C (n.438-2526T>C)
c.96T>C (p.Ala32=)
c.227T>C (p.Leu76Pro)
c.107T>C (p.Leu36Pro)
c.630T>C (p.Ala210=)
n.285T>C
c.510T>C (p.Ala170=)
c.452T>C (p.Leu151Pro)
 gnomAD v4
11g.72106079T>GCA381717659LRRC51,LRTOMT,TOMTc.128T>G (p.Leu43Arg)
c.438-2526T>G (n.438-2526T>G)
c.96T>G (p.Ala32=)
c.227T>G (p.Leu76Arg)
c.107T>G (p.Leu36Arg)
c.630T>G (p.Ala210=)
n.285T>G
c.510T>G (p.Ala170=)
c.452T>G (p.Leu151Arg)
11g.72106080G>ACA475864855LRRC51,LRTOMT,TOMTc.129G>A (p.Leu43=)
c.438-2525G>A (n.438-2525G>A)
c.97G>A (p.Ala33Thr)
c.228G>A (p.Leu76=)
c.108G>A (p.Leu36=)
c.631G>A (p.Ala211Thr)
n.286G>A
c.511G>A (p.Ala171Thr)
c.453G>A (p.Leu151=)
11g.72106080G>CCA475864856LRRC51,LRTOMT,TOMTc.129G>C (p.Leu43=)
c.438-2525G>C (n.438-2525G>C)
c.97G>C (p.Ala33Pro)
c.228G>C (p.Leu76=)
c.108G>C (p.Leu36=)
c.631G>C (p.Ala211Pro)
n.286G>C
c.511G>C (p.Ala171Pro)
c.453G>C (p.Leu151=)
11g.72106080G>TCA475864857LRRC51,LRTOMT,TOMTc.129G>T (p.Leu43=)
c.438-2525G>T (n.438-2525G>T)
c.97G>T (p.Ala33Ser)
c.228G>T (p.Leu76=)
c.108G>T (p.Leu36=)
c.631G>T (p.Ala211Ser)
n.286G>T
c.511G>T (p.Ala171Ser)
c.453G>T (p.Leu151=)
 gnomAD v4
11g.72106081C>ACA475864858LRRC51,LRTOMT,TOMTc.130C>A (p.Arg44=)
c.438-2524C>A (n.438-2524C>A)
c.98C>A (p.Ala33Glu)
c.229C>A (p.Arg77=)
c.109C>A (p.Arg37=)
c.632C>A (p.Ala211Glu)
n.287C>A
c.512C>A (p.Ala171Glu)
c.454C>A (p.Arg152=)
11g.72106081C=CA1981839901LRRC51,LRTOMT,TOMTc.130C= (p.Arg44=)
c.438-2524C= (n.438-2524C=)
c.98C= (p.Ala33=)
c.229C= (p.Arg77=)
c.109C= (p.Arg37=)
c.632C= (p.Ala211=)
n.287C=
c.512C= (p.Ala171=)
c.454C= (p.Arg152=)
11g.72106081C>GCA381717662LRRC51,LRTOMT,TOMTc.130C>G (p.Arg44Gly)
c.438-2524C>G (n.438-2524C>G)
c.98C>G (p.Ala33Gly)
c.229C>G (p.Arg77Gly)
c.109C>G (p.Arg37Gly)
c.632C>G (p.Ala211Gly)
n.287C>G
c.512C>G (p.Ala171Gly)
c.454C>G (p.Arg152Gly)
11g.72106081C>TCA6168579LRRC51,LRTOMT,TOMTc.130C>T (p.Arg44Trp)
c.438-2524C>T (n.438-2524C>T)
c.98C>T (p.Ala33Val)
c.229C>T (p.Arg77Trp)
c.109C>T (p.Arg37Trp)
c.632C>T (p.Ala211Val)
n.287C>T
c.512C>T (p.Ala171Val)
c.454C>T (p.Arg152Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106082G>ACA6168580LRRC51,LRTOMT,TOMTc.131G>A (p.Arg44Gln)
c.438-2523G>A (n.438-2523G>A)
c.99G>A (p.Ala33=)
c.230G>A (p.Arg77Gln)
c.110G>A (p.Arg37Gln)
c.633G>A (p.Ala211=)
n.288G>A
c.513G>A (p.Ala171=)
c.455G>A (p.Arg152Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106082G>CCA381717670LRRC51,LRTOMT,TOMTc.131G>C (p.Arg44Pro)
c.438-2523G>C (n.438-2523G>C)
c.99G>C (p.Ala33=)
c.230G>C (p.Arg77Pro)
c.110G>C (p.Arg37Pro)
c.633G>C (p.Ala211=)
n.288G>C
c.513G>C (p.Ala171=)
c.455G>C (p.Arg152Pro)
 gnomAD v4
11g.72106082G=CA1981839902LRRC51,LRTOMT,TOMTc.131G= (p.Arg44=)
c.438-2523G= (n.438-2523G=)
c.99G= (p.Ala33=)
c.230G= (p.Arg77=)
c.110G= (p.Arg37=)
c.633G= (p.Ala211=)
n.288G=
c.513G= (p.Ala171=)
c.455G= (p.Arg152=)
11g.72106082G>TCA381717667LRRC51,LRTOMT,TOMTc.131G>T (p.Arg44Leu)
c.438-2523G>T (n.438-2523G>T)
c.99G>T (p.Ala33=)
c.230G>T (p.Arg77Leu)
c.110G>T (p.Arg37Leu)
c.633G>T (p.Ala211=)
n.288G>T
c.513G>T (p.Ala171=)
c.455G>T (p.Arg152Leu)
 gnomAD v4
11g.72106083G>ACA475864859LRRC51,LRTOMT,TOMTc.132G>A (p.Arg44=)
c.438-2522G>A (n.438-2522G>A)
c.100G>A (p.Asp34Asn)
c.231G>A (p.Arg77=)
c.111G>A (p.Arg37=)
c.634G>A (p.Asp212Asn)
n.289G>A
c.514G>A (p.Asp172Asn)
c.456G>A (p.Arg152=)
11g.72106083G>CCA475864860LRRC51,LRTOMT,TOMTc.132G>C (p.Arg44=)
c.438-2522G>C (n.438-2522G>C)
c.100G>C (p.Asp34His)
c.231G>C (p.Arg77=)
c.111G>C (p.Arg37=)
c.634G>C (p.Asp212His)
n.289G>C
c.514G>C (p.Asp172His)
c.456G>C (p.Arg152=)
11g.72106083G>TCA475864861LRRC51,LRTOMT,TOMTc.132G>T (p.Arg44=)
c.438-2522G>T (n.438-2522G>T)
c.100G>T (p.Asp34Tyr)
c.231G>T (p.Arg77=)
c.111G>T (p.Arg37=)
c.634G>T (p.Asp212Tyr)
n.289G>T
c.514G>T (p.Asp172Tyr)
c.456G>T (p.Arg152=)
 gnomAD v4
11g.72106084delCA2614917526LRRC51,LRTOMT,TOMTc.133del (p.Ile45SerfsTer?)
c.438-2521del (n.438-2521del)
c.101del (p.Asp34ValfsTer?)
c.232del (p.Ile78SerfsTer?)
c.112del (p.Ile38SerfsTer?)
c.635del (p.Asp212ValfsTer?)
n.290del
c.515del (p.Asp172ValfsTer?)
c.457del (p.Ile153SerfsTer?)
 gnomAD v4
11g.72106084A=CA1981839903LRRC51,LRTOMT,TOMTc.133A= (p.Ile45=)
c.438-2521A= (n.438-2521A=)
c.101A= (p.Asp34=)
c.232A= (p.Ile78=)
c.112A= (p.Ile38=)
c.635A= (p.Asp212=)
n.290A=
c.515A= (p.Asp172=)
c.457A= (p.Ile153=)
11g.72106084A>CCA381717675LRRC51,LRTOMT,TOMTc.133A>C (p.Ile45Leu)
c.438-2521A>C (n.438-2521A>C)
c.101A>C (p.Asp34Ala)
c.232A>C (p.Ile78Leu)
c.112A>C (p.Ile38Leu)
c.635A>C (p.Asp212Ala)
n.290A>C
c.515A>C (p.Asp172Ala)
c.457A>C (p.Ile153Leu)
11g.72106084A>GCA381717677LRRC51,LRTOMT,TOMTc.133A>G (p.Ile45Val)
c.438-2521A>G (n.438-2521A>G)
c.101A>G (p.Asp34Gly)
c.232A>G (p.Ile78Val)
c.112A>G (p.Ile38Val)
c.635A>G (p.Asp212Gly)
n.290A>G
c.515A>G (p.Asp172Gly)
c.457A>G (p.Ile153Val)
11g.72106084A>TCA381717680LRRC51,LRTOMT,TOMTc.133A>T (p.Ile45Phe)
c.438-2521A>T (n.438-2521A>T)
c.101A>T (p.Asp34Val)
c.232A>T (p.Ile78Phe)
c.112A>T (p.Ile38Phe)
c.635A>T (p.Asp212Val)
n.290A>T
c.515A>T (p.Asp172Val)
c.457A>T (p.Ile153Phe)
 dbSNP gnomAD v4
11g.72106085T>ACA381717683LRRC51,LRTOMT,TOMTc.134T>A (p.Ile45Asn)
c.438-2520T>A (n.438-2520T>A)
c.102T>A (p.Asp34Glu)
c.233T>A (p.Ile78Asn)
c.113T>A (p.Ile38Asn)
c.636T>A (p.Asp212Glu)
n.291T>A
c.516T>A (p.Asp172Glu)
c.458T>A (p.Ile153Asn)
11g.72106085T>CCA381717685LRRC51,LRTOMT,TOMTc.134T>C (p.Ile45Thr)
c.438-2520T>C (n.438-2520T>C)
c.102T>C (p.Asp34=)
c.233T>C (p.Ile78Thr)
c.113T>C (p.Ile38Thr)
c.636T>C (p.Asp212=)
n.291T>C
c.516T>C (p.Asp172=)
c.458T>C (p.Ile153Thr)
11g.72106085T>GCA381717692LRRC51,LRTOMT,TOMTc.134T>G (p.Ile45Ser)
c.438-2520T>G (n.438-2520T>G)
c.102T>G (p.Asp34Glu)
c.233T>G (p.Ile78Ser)
c.113T>G (p.Ile38Ser)
c.636T>G (p.Asp212Glu)
n.291T>G
c.516T>G (p.Asp172Glu)
c.458T>G (p.Ile153Ser)
11g.72106086C>ACA6168581LRRC51,LRTOMT,TOMTc.135C>A (p.Ile45=)
c.438-2519C>A (n.438-2519C>A)
c.103C>A (p.Arg35=)
c.234C>A (p.Ile78=)
c.114C>A (p.Ile38=)
c.637C>A (p.Arg213=)
n.292C>A
c.517C>A (p.Arg173=)
c.459C>A (p.Ile153=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106086C=CA1981839904LRRC51,LRTOMT,TOMTc.135C= (p.Ile45=)
c.438-2519C= (n.438-2519C=)
c.103C= (p.Arg35=)
c.234C= (p.Ile78=)
c.114C= (p.Ile38=)
c.637C= (p.Arg213=)
n.292C=
c.517C= (p.Arg173=)
c.459C= (p.Ile153=)
11g.72106086C>GCA381717696LRRC51,LRTOMT,TOMTc.135C>G (p.Ile45Met)
c.438-2519C>G (n.438-2519C>G)
c.103C>G (p.Arg35Gly)
c.234C>G (p.Ile78Met)
c.114C>G (p.Ile38Met)
c.637C>G (p.Arg213Gly)
n.292C>G
c.517C>G (p.Arg173Gly)
c.459C>G (p.Ile153Met)
 gnomAD v4
11g.72106086C>TCA475864862LRRC51,LRTOMT,TOMTc.135C>T (p.Ile45=)
c.438-2519C>T (n.438-2519C>T)
c.103C>T (p.Arg35Ter)
c.234C>T (p.Ile78=)
c.114C>T (p.Ile38=)
c.637C>T (p.Arg213Ter)
n.292C>T
c.517C>T (p.Arg173Ter)
c.459C>T (p.Ile153=)
 gnomAD v4
11g.72106087G>ACA6168582LRRC51,LRTOMT,TOMTc.136G>A (p.Glu46Lys)
c.438-2518G>A (n.438-2518G>A)
c.104G>A (p.Arg35Gln)
c.235G>A (p.Glu79Lys)
c.115G>A (p.Glu39Lys)
c.638G>A (p.Arg213Gln)
n.293G>A
c.518G>A (p.Arg173Gln)
c.460G>A (p.Glu154Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106087G>CCA381717700LRRC51,LRTOMT,TOMTc.136G>C (p.Glu46Gln)
c.438-2518G>C (n.438-2518G>C)
c.104G>C (p.Arg35Pro)
c.235G>C (p.Glu79Gln)
c.115G>C (p.Glu39Gln)
c.638G>C (p.Arg213Pro)
n.293G>C
c.518G>C (p.Arg173Pro)
c.460G>C (p.Glu154Gln)
11g.72106087G=CA1981839905LRRC51,LRTOMT,TOMTc.136G= (p.Glu46=)
c.438-2518G= (n.438-2518G=)
c.104G= (p.Arg35=)
c.235G= (p.Glu79=)
c.115G= (p.Glu39=)
c.638G= (p.Arg213=)
n.293G=
c.518G= (p.Arg173=)
c.460G= (p.Glu154=)
11g.72106087G>TCA381717702LRRC51,LRTOMT,TOMTc.136G>T (p.Glu46Ter)
c.438-2518G>T (n.438-2518G>T)
c.104G>T (p.Arg35Leu)
c.235G>T (p.Glu79Ter)
c.115G>T (p.Glu39Ter)
c.638G>T (p.Arg213Leu)
n.293G>T
c.518G>T (p.Arg173Leu)
c.460G>T (p.Glu154Ter)
 gnomAD v4
11g.72106088A>CCA381717705LRRC51,LRTOMT,TOMTc.137A>C (p.Glu46Ala)
c.438-2517A>C (n.438-2517A>C)
c.105A>C (p.Arg35=)
c.236A>C (p.Glu79Ala)
c.116A>C (p.Glu39Ala)
c.639A>C (p.Arg213=)
n.294A>C
c.519A>C (p.Arg173=)
c.461A>C (p.Glu154Ala)
11g.72106088A>GCA381717706LRRC51,LRTOMT,TOMTc.137A>G (p.Glu46Gly)
c.438-2517A>G (n.438-2517A>G)
c.105A>G (p.Arg35=)
c.236A>G (p.Glu79Gly)
c.116A>G (p.Glu39Gly)
c.639A>G (p.Arg213=)
n.294A>G
c.519A>G (p.Arg173=)
c.461A>G (p.Glu154Gly)
11g.72106088A>TCA381717709LRRC51,LRTOMT,TOMTc.137A>T (p.Glu46Val)
c.438-2517A>T (n.438-2517A>T)
c.105A>T (p.Arg35=)
c.236A>T (p.Glu79Val)
c.116A>T (p.Glu39Val)
c.639A>T (p.Arg213=)
n.294A>T
c.519A>T (p.Arg173=)
c.461A>T (p.Glu154Val)
11g.72106089G>ACA475864863LRRC51,LRTOMT,TOMTc.138G>A (p.Glu46=)
c.438-2516G>A (n.438-2516G>A)
c.106G>A (p.Gly36Arg)
c.237G>A (p.Glu79=)
c.117G>A (p.Glu39=)
c.640G>A (p.Gly214Arg)
n.295G>A
c.520G>A (p.Gly174Arg)
c.462G>A (p.Glu154=)
11g.72106089G>CCA381717712LRRC51,LRTOMT,TOMTc.138G>C (p.Glu46Asp)
c.438-2516G>C (n.438-2516G>C)
c.106G>C (p.Gly36Arg)
c.237G>C (p.Glu79Asp)
c.117G>C (p.Glu39Asp)
c.640G>C (p.Gly214Arg)
n.295G>C
c.520G>C (p.Gly174Arg)
c.462G>C (p.Glu154Asp)
11g.72106089G>TCA381717714LRRC51,LRTOMT,TOMTc.138G>T (p.Glu46Asp)
c.438-2516G>T (n.438-2516G>T)
c.106G>T (p.Gly36Ter)
c.237G>T (p.Glu79Asp)
c.117G>T (p.Glu39Asp)
c.640G>T (p.Gly214Ter)
n.295G>T
c.520G>T (p.Gly174Ter)
c.462G>T (p.Glu154Asp)
 gnomAD v4
11g.72106090G>ACA381717717LRRC51,LRTOMT,TOMTc.139G>A (p.Glu47Lys)
c.438-2515G>A (n.438-2515G>A)
c.107G>A (p.Gly36Glu)
c.238G>A (p.Glu80Lys)
c.118G>A (p.Glu40Lys)
c.641G>A (p.Gly214Glu)
n.296G>A
c.521G>A (p.Gly174Glu)
c.463G>A (p.Glu155Lys)
11g.72106090G>CCA381717719LRRC51,LRTOMT,TOMTc.139G>C (p.Glu47Gln)
c.438-2515G>C (n.438-2515G>C)
c.107G>C (p.Gly36Ala)
c.238G>C (p.Glu80Gln)
c.118G>C (p.Glu40Gln)
c.641G>C (p.Gly214Ala)
n.296G>C
c.521G>C (p.Gly174Ala)
c.463G>C (p.Glu155Gln)
11g.72106090G>TCA381717721LRRC51,LRTOMT,TOMTc.139G>T (p.Glu47Ter)
c.438-2515G>T (n.438-2515G>T)
c.107G>T (p.Gly36Val)
c.238G>T (p.Glu80Ter)
c.118G>T (p.Glu40Ter)
c.641G>T (p.Gly214Val)
n.296G>T
c.521G>T (p.Gly174Val)
c.463G>T (p.Glu155Ter)
 gnomAD v4
11g.72106091A>CCA381717724LRRC51,LRTOMT,TOMTc.140A>C (p.Glu47Ala)
c.438-2514A>C (n.438-2514A>C)
c.108A>C (p.Gly36=)
c.239A>C (p.Glu80Ala)
c.119A>C (p.Glu40Ala)
c.642A>C (p.Gly214=)
n.297A>C
c.522A>C (p.Gly174=)
c.464A>C (p.Glu155Ala)
11g.72106091A>GCA381717726LRRC51,LRTOMT,TOMTc.140A>G (p.Glu47Gly)
c.438-2514A>G (n.438-2514A>G)
c.108A>G (p.Gly36=)
c.239A>G (p.Glu80Gly)
c.119A>G (p.Glu40Gly)
c.642A>G (p.Gly214=)
n.297A>G
c.522A>G (p.Gly174=)
c.464A>G (p.Glu155Gly)
11g.72106091A>TCA381717728LRRC51,LRTOMT,TOMTc.140A>T (p.Glu47Val)
c.438-2514A>T (n.438-2514A>T)
c.108A>T (p.Gly36=)
c.239A>T (p.Glu80Val)
c.119A>T (p.Glu40Val)
c.642A>T (p.Gly214=)
n.297A>T
c.522A>T (p.Gly174=)
c.464A>T (p.Glu155Val)
11g.72106092G>ACA475864864LRRC51,LRTOMT,TOMTc.141G>A (p.Glu47=)
c.438-2513G>A (n.438-2513G>A)
c.109G>A (p.Ala37Thr)
c.240G>A (p.Glu80=)
c.120G>A (p.Glu40=)
c.643G>A (p.Ala215Thr)
n.298G>A
c.523G>A (p.Ala175Thr)
c.465G>A (p.Glu155=)
11g.72106092G>CCA381717731LRRC51,LRTOMT,TOMTc.141G>C (p.Glu47Asp)
c.438-2513G>C (n.438-2513G>C)
c.109G>C (p.Ala37Pro)
c.240G>C (p.Glu80Asp)
c.120G>C (p.Glu40Asp)
c.643G>C (p.Ala215Pro)
n.298G>C
c.523G>C (p.Ala175Pro)
c.465G>C (p.Glu155Asp)
11g.72106092G>TCA381717733LRRC51,LRTOMT,TOMTc.141G>T (p.Glu47Asp)
c.438-2513G>T (n.438-2513G>T)
c.109G>T (p.Ala37Ser)
c.240G>T (p.Glu80Asp)
c.120G>T (p.Glu40Asp)
c.643G>T (p.Ala215Ser)
n.298G>T
c.523G>T (p.Ala175Ser)
c.465G>T (p.Glu155Asp)
 gnomAD v4
11g.72106093C>ACA475864865LRRC51,LRTOMT,TOMTc.142C>A (p.Arg48=)
c.438-2512C>A (n.438-2512C>A)
c.110C>A (p.Ala37Glu)
c.241C>A (p.Arg81=)
c.121C>A (p.Arg41=)
c.644C>A (p.Ala215Glu)
n.299C>A
c.524C>A (p.Ala175Glu)
c.466C>A (p.Arg156=)
11g.72106093C=CA1981839906LRRC51,LRTOMT,TOMTc.142C= (p.Arg48=)
c.438-2512C= (n.438-2512C=)
c.110C= (p.Ala37=)
c.241C= (p.Arg81=)
c.121C= (p.Arg41=)
c.644C= (p.Ala215=)
n.299C=
c.524C= (p.Ala175=)
c.466C= (p.Arg156=)
11g.72106093C>GCA224374534LRRC51,LRTOMT,TOMTc.142C>G (p.Arg48Gly)
c.438-2512C>G (n.438-2512C>G)
c.110C>G (p.Ala37Gly)
c.241C>G (p.Arg81Gly)
c.121C>G (p.Arg41Gly)
c.644C>G (p.Ala215Gly)
n.299C>G
c.524C>G (p.Ala175Gly)
c.466C>G (p.Arg156Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106093C>TCA381717737LRRC51,LRTOMT,TOMTc.142C>T (p.Arg48Trp)
c.438-2512C>T (n.438-2512C>T)
c.110C>T (p.Ala37Val)
c.241C>T (p.Arg81Trp)
c.121C>T (p.Arg41Trp)
c.644C>T (p.Ala215Val)
n.299C>T
c.524C>T (p.Ala175Val)
c.466C>T (p.Arg156Trp)
 dbSNP gnomAD v3 gnomAD v4
11g.72106093_72106094delinsCGCA1981839907LRRC51,LRTOMT,TOMTc.142_143delinsCG (p.Arg48=)
c.438-2512_438-2511delinsCG (n.438-2512_438-2511delinsCG)
c.110_111delinsCG (p.Ala37=)
c.241_242delinsCG (p.Arg81=)
c.121_122delinsCG (p.Arg41=)
c.644_645delinsCG (p.Ala215=)
n.299_300delinsCG
c.524_525delinsCG (p.Ala175=)
c.466_467delinsCG (p.Arg156=)
11g.72106094G>ACA251495LRRC51,LRTOMT,TOMTc.143G>A (p.Arg48Gln)
c.438-2511G>A (n.438-2511G>A)
c.111G>A (p.Ala37=)
c.242G>A (p.Arg81Gln)
c.122G>A (p.Arg41Gln)
c.645G>A (p.Ala215=)
n.300G>A
c.525G>A (p.Ala175=)
c.467G>A (p.Arg156Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106094G>CCA381717740LRRC51,LRTOMT,TOMTc.143G>C (p.Arg48Pro)
c.438-2511G>C (n.438-2511G>C)
c.111G>C (p.Ala37=)
c.242G>C (p.Arg81Pro)
c.122G>C (p.Arg41Pro)
c.645G>C (p.Ala215=)
n.300G>C
c.525G>C (p.Ala175=)
c.467G>C (p.Arg156Pro)
 gnomAD v4
11g.72106094G=CA1981839908LRRC51,LRTOMT,TOMTc.143G= (p.Arg48=)
c.438-2511G= (n.438-2511G=)
c.111G= (p.Ala37=)
c.242G= (p.Arg81=)
c.122G= (p.Arg41=)
c.645G= (p.Ala215=)
n.300G=
c.525G= (p.Ala175=)
c.467G= (p.Arg156=)
11g.72106094G>TCA381717743LRRC51,LRTOMT,TOMTc.143G>T (p.Arg48Leu)
c.438-2511G>T (n.438-2511G>T)
c.111G>T (p.Ala37=)
c.242G>T (p.Arg81Leu)
c.122G>T (p.Arg41Leu)
c.645G>T (p.Ala215=)
n.300G>T
c.525G>T (p.Ala175=)
c.467G>T (p.Arg156Leu)
11g.72106096delCA600242551LRRC51,LRTOMT,TOMTc.145del (p.Ala49ProfsTer?)
c.438-2509del (n.438-2509del)
c.113del (p.Gly38AlafsTer?)
c.244del (p.Ala82ProfsTer?)
c.124del (p.Ala42ProfsTer?)
c.647del (p.Gly216AlafsTer?)
n.302del
c.527del (p.Gly176AlafsTer?)
c.469del (p.Ala157ProfsTer?)
 dbSNP gnomAD v2 gnomAD v4
11g.72106095G>ACA475864868LRRC51,LRTOMT,TOMTc.144G>A (p.Arg48=)
c.438-2510G>A (n.438-2510G>A)
c.112G>A (p.Gly38Ser)
c.243G>A (p.Arg81=)
c.123G>A (p.Arg41=)
c.646G>A (p.Gly216Ser)
n.301G>A
c.526G>A (p.Gly176Ser)
c.468G>A (p.Arg156=)
 gnomAD v4
11g.72106095G>CCA475864867LRRC51,LRTOMT,TOMTc.144G>C (p.Arg48=)
c.438-2510G>C (n.438-2510G>C)
c.112G>C (p.Gly38Arg)
c.243G>C (p.Arg81=)
c.123G>C (p.Arg41=)
c.646G>C (p.Gly216Arg)
n.301G>C
c.526G>C (p.Gly176Arg)
c.468G>C (p.Arg156=)
11g.72106095G>TCA475864866LRRC51,LRTOMT,TOMTc.144G>T (p.Arg48=)
c.438-2510G>T (n.438-2510G>T)
c.112G>T (p.Gly38Cys)
c.243G>T (p.Arg81=)
c.123G>T (p.Arg41=)
c.646G>T (p.Gly216Cys)
n.301G>T
c.526G>T (p.Gly176Cys)
c.468G>T (p.Arg156=)
 gnomAD v4
11g.72106096G>ACA381717749LRRC51,LRTOMT,TOMTc.145G>A (p.Ala49Thr)
c.438-2509G>A (n.438-2509G>A)
c.113G>A (p.Gly38Asp)
c.244G>A (p.Ala82Thr)
c.124G>A (p.Ala42Thr)
c.647G>A (p.Gly216Asp)
n.302G>A
c.527G>A (p.Gly176Asp)
c.469G>A (p.Ala157Thr)
 gnomAD v4
11g.72106096G>CCA381717752LRRC51,LRTOMT,TOMTc.145G>C (p.Ala49Pro)
c.438-2509G>C (n.438-2509G>C)
c.113G>C (p.Gly38Ala)
c.244G>C (p.Ala82Pro)
c.124G>C (p.Ala42Pro)
c.647G>C (p.Gly216Ala)
n.302G>C
c.527G>C (p.Gly176Ala)
c.469G>C (p.Ala157Pro)
11g.72106096G>TCA381717747LRRC51,LRTOMT,TOMTc.145G>T (p.Ala49Ser)
c.438-2509G>T (n.438-2509G>T)
c.113G>T (p.Gly38Val)
c.244G>T (p.Ala82Ser)
c.124G>T (p.Ala42Ser)
c.647G>T (p.Gly216Val)
n.302G>T
c.527G>T (p.Gly176Val)
c.469G>T (p.Ala157Ser)
11g.72106097C>ACA381717754LRRC51,LRTOMT,TOMTc.146C>A (p.Ala49Asp)
c.438-2508C>A (n.438-2508C>A)
c.114C>A (p.Gly38=)
c.245C>A (p.Ala82Asp)
c.125C>A (p.Ala42Asp)
c.648C>A (p.Gly216=)
n.303C>A
c.528C>A (p.Gly176=)
c.470C>A (p.Ala157Asp)
11g.72106097C=CA1981839909LRRC51,LRTOMT,TOMTc.146C= (p.Ala49=)
c.438-2508C= (n.438-2508C=)
c.114C= (p.Gly38=)
c.245C= (p.Ala82=)
c.125C= (p.Ala42=)
c.648C= (p.Gly216=)
n.303C=
c.528C= (p.Gly176=)
c.470C= (p.Ala157=)
11g.72106097C>GCA381717756LRRC51,LRTOMT,TOMTc.146C>G (p.Ala49Gly)
c.438-2508C>G (n.438-2508C>G)
c.114C>G (p.Gly38=)
c.245C>G (p.Ala82Gly)
c.125C>G (p.Ala42Gly)
c.648C>G (p.Gly216=)
n.303C>G
c.528C>G (p.Gly176=)
c.470C>G (p.Ala157Gly)
11g.72106097C>TCA224374540LRRC51,LRTOMT,TOMTc.146C>T (p.Ala49Val)
c.438-2508C>T (n.438-2508C>T)
c.114C>T (p.Gly38=)
c.245C>T (p.Ala82Val)
c.125C>T (p.Ala42Val)
c.648C>T (p.Gly216=)
n.303C>T
c.528C>T (p.Gly176=)
c.470C>T (p.Ala157Val)
 dbSNP gnomAD v2 gnomAD v4
11g.72106098C>ACA475864869LRRC51,LRTOMT,TOMTc.147C>A (p.Ala49=)
c.438-2507C>A (n.438-2507C>A)
c.115C>A (p.Leu39Ile)
c.246C>A (p.Ala82=)
c.126C>A (p.Ala42=)
c.649C>A (p.Leu217Ile)
n.304C>A
c.529C>A (p.Leu177Ile)
c.471C>A (p.Ala157=)
11g.72106098C>GCA475864870LRRC51,LRTOMT,TOMTc.147C>G (p.Ala49=)
c.438-2507C>G (n.438-2507C>G)
c.115C>G (p.Leu39Val)
c.246C>G (p.Ala82=)
c.126C>G (p.Ala42=)
c.649C>G (p.Leu217Val)
n.304C>G
c.529C>G (p.Leu177Val)
c.471C>G (p.Ala157=)
11g.72106098C>TCA475864871LRRC51,LRTOMT,TOMTc.147C>T (p.Ala49=)
c.438-2507C>T (n.438-2507C>T)
c.115C>T (p.Leu39Phe)
c.246C>T (p.Ala82=)
c.126C>T (p.Ala42=)
c.649C>T (p.Leu217Phe)
n.304C>T
c.529C>T (p.Leu177Phe)
c.471C>T (p.Ala157=)
 gnomAD v4
11g.72106099T>ACA381717760LRRC51,LRTOMT,TOMTc.148T>A (p.Phe50Ile)
c.438-2506T>A (n.438-2506T>A)
c.116T>A (p.Leu39His)
c.247T>A (p.Phe83Ile)
c.127T>A (p.Phe43Ile)
c.650T>A (p.Leu217His)
n.305T>A
c.530T>A (p.Leu177His)
c.472T>A (p.Phe158Ile)
11g.72106099T>CCA381717762LRRC51,LRTOMT,TOMTc.148T>C (p.Phe50Leu)
c.438-2506T>C (n.438-2506T>C)
c.116T>C (p.Leu39Pro)
c.247T>C (p.Phe83Leu)
c.127T>C (p.Phe43Leu)
c.650T>C (p.Leu217Pro)
n.305T>C
c.530T>C (p.Leu177Pro)
c.472T>C (p.Phe158Leu)
11g.72106099T>GCA381717763LRRC51,LRTOMT,TOMTc.148T>G (p.Phe50Val)
c.438-2506T>G (n.438-2506T>G)
c.116T>G (p.Leu39Arg)
c.247T>G (p.Phe83Val)
c.127T>G (p.Phe43Val)
c.650T>G (p.Leu217Arg)
n.305T>G
c.530T>G (p.Leu177Arg)
c.472T>G (p.Phe158Val)
11g.72106100T>ACA381717769LRRC51,LRTOMT,TOMTc.149T>A (p.Phe50Tyr)
c.438-2505T>A (n.438-2505T>A)
c.117T>A (p.Leu39=)
c.248T>A (p.Phe83Tyr)
c.128T>A (p.Phe43Tyr)
c.651T>A (p.Leu217=)
n.306T>A
c.531T>A (p.Leu177=)
c.473T>A (p.Phe158Tyr)
11g.72106100T>CCA381717765LRRC51,LRTOMT,TOMTc.149T>C (p.Phe50Ser)
c.438-2505T>C (n.438-2505T>C)
c.117T>C (p.Leu39=)
c.248T>C (p.Phe83Ser)
c.128T>C (p.Phe43Ser)
c.651T>C (p.Leu217=)
n.306T>C
c.531T>C (p.Leu177=)
c.473T>C (p.Phe158Ser)
11g.72106100T>GCA381717767LRRC51,LRTOMT,TOMTc.149T>G (p.Phe50Cys)
c.438-2505T>G (n.438-2505T>G)
c.117T>G (p.Leu39=)
c.248T>G (p.Phe83Cys)
c.128T>G (p.Phe43Cys)
c.651T>G (p.Leu217=)
n.306T>G
c.531T>G (p.Leu177=)
c.473T>G (p.Phe158Cys)
 gnomAD v4
11g.72106101C>ACA381717771LRRC51,LRTOMT,TOMTc.150C>A (p.Phe50Leu)
c.438-2504C>A (n.438-2504C>A)
c.118C>A (p.Gln40Lys)
c.249C>A (p.Phe83Leu)
c.129C>A (p.Phe43Leu)
c.652C>A (p.Gln218Lys)
n.307C>A
c.532C>A (p.Gln178Lys)
c.474C>A (p.Phe158Leu)
11g.72106101C=CA1981839910LRRC51,LRTOMT,TOMTc.150C= (p.Phe50=)
c.438-2504C= (n.438-2504C=)
c.118C= (p.Gln40=)
c.249C= (p.Phe83=)
c.129C= (p.Phe43=)
c.652C= (p.Gln218=)
n.307C=
c.532C= (p.Gln178=)
c.474C= (p.Phe158=)
11g.72106101C>GCA6168583LRRC51,LRTOMT,TOMTc.150C>G (p.Phe50Leu)
c.438-2504C>G (n.438-2504C>G)
c.118C>G (p.Gln40Glu)
c.249C>G (p.Phe83Leu)
c.129C>G (p.Phe43Leu)
c.652C>G (p.Gln218Glu)
n.307C>G
c.532C>G (p.Gln178Glu)
c.474C>G (p.Phe158Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106101C>TCA475864872LRRC51,LRTOMT,TOMTc.150C>T (p.Phe50=)
c.438-2504C>T (n.438-2504C>T)
c.118C>T (p.Gln40Ter)
c.249C>T (p.Phe83=)
c.129C>T (p.Phe43=)
c.652C>T (p.Gln218Ter)
n.307C>T
c.532C>T (p.Gln178Ter)
c.474C>T (p.Phe158=)
 gnomAD v4
11g.72106102A>CCA381717775LRRC51,LRTOMT,TOMTc.151A>C (p.Ser51Arg)
c.438-2503A>C (n.438-2503A>C)
c.119A>C (p.Gln40Pro)
c.250A>C (p.Ser84Arg)
c.130A>C (p.Ser44Arg)
c.653A>C (p.Gln218Pro)
n.308A>C
c.533A>C (p.Gln178Pro)
c.475A>C (p.Ser159Arg)
11g.72106102A>GCA381717777LRRC51,LRTOMT,TOMTc.151A>G (p.Ser51Gly)
c.438-2503A>G (n.438-2503A>G)
c.119A>G (p.Gln40Arg)
c.250A>G (p.Ser84Gly)
c.130A>G (p.Ser44Gly)
c.653A>G (p.Gln218Arg)
n.308A>G
c.533A>G (p.Gln178Arg)
c.475A>G (p.Ser159Gly)
11g.72106102A>TCA381717779LRRC51,LRTOMT,TOMTc.151A>T (p.Ser51Cys)
c.438-2503A>T (n.438-2503A>T)
c.119A>T (p.Gln40Leu)
c.250A>T (p.Ser84Cys)
c.130A>T (p.Ser44Cys)
c.653A>T (p.Gln218Leu)
n.308A>T
c.533A>T (p.Gln178Leu)
c.475A>T (p.Ser159Cys)
11g.72106103G>ACA381717785LRRC51,LRTOMT,TOMTc.152G>A (p.Ser51Asn)
c.438-2502G>A (n.438-2502G>A)
c.120G>A (p.Gln40=)
c.251G>A (p.Ser84Asn)
c.131G>A (p.Ser44Asn)
c.654G>A (p.Gln218=)
n.309G>A
c.534G>A (p.Gln178=)
c.476G>A (p.Ser159Asn)
11g.72106103G>CCA381717781LRRC51,LRTOMT,TOMTc.152G>C (p.Ser51Thr)
c.438-2502G>C (n.438-2502G>C)
c.120G>C (p.Gln40His)
c.251G>C (p.Ser84Thr)
c.131G>C (p.Ser44Thr)
c.654G>C (p.Gln218His)
n.309G>C
c.534G>C (p.Gln178His)
c.476G>C (p.Ser159Thr)
 gnomAD v4
11g.72106103G>TCA381717783LRRC51,LRTOMT,TOMTc.152G>T (p.Ser51Ile)
c.438-2502G>T (n.438-2502G>T)
c.120G>T (p.Gln40His)
c.251G>T (p.Ser84Ile)
c.131G>T (p.Ser44Ile)
c.654G>T (p.Gln218His)
n.309G>T
c.534G>T (p.Gln178His)
c.476G>T (p.Ser159Ile)
 gnomAD v4
11g.72106104C>ACA381717788LRRC51,LRTOMT,TOMTc.153C>A (p.Ser51Arg)
c.438-2501C>A (n.438-2501C>A)
c.121C>A (p.Leu41Ile)
c.252C>A (p.Ser84Arg)
c.132C>A (p.Ser44Arg)
c.655C>A (p.Leu219Ile)
n.310C>A
c.535C>A (p.Leu179Ile)
c.477C>A (p.Ser159Arg)
11g.72106104C=CA1981839911LRRC51,LRTOMT,TOMTc.153C= (p.Ser51=)
c.438-2501C= (n.438-2501C=)
c.121C= (p.Leu41=)
c.252C= (p.Ser84=)
c.132C= (p.Ser44=)
c.655C= (p.Leu219=)
n.310C=
c.535C= (p.Leu179=)
c.477C= (p.Ser159=)
11g.72106104C>GCA381717790LRRC51,LRTOMT,TOMTc.153C>G (p.Ser51Arg)
c.438-2501C>G (n.438-2501C>G)
c.121C>G (p.Leu41Val)
c.252C>G (p.Ser84Arg)
c.132C>G (p.Ser44Arg)
c.655C>G (p.Leu219Val)
n.310C>G
c.535C>G (p.Leu179Val)
c.477C>G (p.Ser159Arg)
11g.72106104C>TCA475864873LRRC51,LRTOMT,TOMTc.153C>T (p.Ser51=)
c.438-2501C>T (n.438-2501C>T)
c.121C>T (p.Leu41=)
c.252C>T (p.Ser84=)
c.132C>T (p.Ser44=)
c.655C>T (p.Leu219=)
n.310C>T
c.535C>T (p.Leu179=)
c.477C>T (p.Ser159=)
 dbSNP gnomAD v2
11g.72106105T>ACA381717792LRRC51,LRTOMT,TOMTc.154T>A (p.Tyr52Asn)
c.438-2500T>A (n.438-2500T>A)
c.122T>A (p.Leu41Gln)
c.253T>A (p.Tyr85Asn)
c.133T>A (p.Tyr45Asn)
c.656T>A (p.Leu219Gln)
n.311T>A
c.536T>A (p.Leu179Gln)
c.478T>A (p.Tyr160Asn)
11g.72106105T>CCA381717793LRRC51,LRTOMT,TOMTc.154T>C (p.Tyr52His)
c.438-2500T>C (n.438-2500T>C)
c.122T>C (p.Leu41Pro)
c.253T>C (p.Tyr85His)
c.133T>C (p.Tyr45His)
c.656T>C (p.Leu219Pro)
n.311T>C
c.536T>C (p.Leu179Pro)
c.478T>C (p.Tyr160His)
11g.72106105T>GCA381717794LRRC51,LRTOMT,TOMTc.154T>G (p.Tyr52Asp)
c.438-2500T>G (n.438-2500T>G)
c.122T>G (p.Leu41Arg)
c.253T>G (p.Tyr85Asp)
c.133T>G (p.Tyr45Asp)
c.656T>G (p.Leu219Arg)
n.311T>G
c.536T>G (p.Leu179Arg)
c.478T>G (p.Tyr160Asp)
11g.72106106A>CCA381717796LRRC51,LRTOMT,TOMTc.155A>C (p.Tyr52Ser)
c.438-2499A>C (n.438-2499A>C)
c.123A>C (p.Leu41=)
c.254A>C (p.Tyr85Ser)
c.134A>C (p.Tyr45Ser)
c.657A>C (p.Leu219=)
n.312A>C
c.537A>C (p.Leu179=)
c.479A>C (p.Tyr160Ser)
11g.72106106A>GCA381717798LRRC51,LRTOMT,TOMTc.155A>G (p.Tyr52Cys)
c.438-2499A>G (n.438-2499A>G)
c.123A>G (p.Leu41=)
c.254A>G (p.Tyr85Cys)
c.134A>G (p.Tyr45Cys)
c.657A>G (p.Leu219=)
n.312A>G
c.537A>G (p.Leu179=)
c.479A>G (p.Tyr160Cys)
11g.72106106A>TCA381717800LRRC51,LRTOMT,TOMTc.155A>T (p.Tyr52Phe)
c.438-2499A>T (n.438-2499A>T)
c.123A>T (p.Leu41=)
c.254A>T (p.Tyr85Phe)
c.134A>T (p.Tyr45Phe)
c.657A>T (p.Leu219=)
n.312A>T
c.537A>T (p.Leu179=)
c.479A>T (p.Tyr160Phe)
11g.72106107C>ACA381717802LRRC51,LRTOMT,TOMTc.156C>A (p.Tyr52Ter)
c.438-2498C>A (n.438-2498C>A)
c.124C>A (p.Arg42Ser)
c.255C>A (p.Tyr85Ter)
c.135C>A (p.Tyr45Ter)
c.658C>A (p.Arg220Ser)
n.313C>A
c.538C>A (p.Arg180Ser)
c.480C>A (p.Tyr160Ter)
11g.72106107C=CA1981839912LRRC51,LRTOMT,TOMTc.156C= (p.Tyr52=)
c.438-2498C= (n.438-2498C=)
c.124C= (p.Arg42=)
c.255C= (p.Tyr85=)
c.135C= (p.Tyr45=)
c.658C= (p.Arg220=)
n.313C=
c.538C= (p.Arg180=)
c.480C= (p.Tyr160=)
11g.72106107C>GCA381717810LRRC51,LRTOMT,TOMTc.156C>G (p.Tyr52Ter)
c.438-2498C>G (n.438-2498C>G)
c.124C>G (p.Arg42Gly)
c.255C>G (p.Tyr85Ter)
c.135C>G (p.Tyr45Ter)
c.658C>G (p.Arg220Gly)
n.313C>G
c.538C>G (p.Arg180Gly)
c.480C>G (p.Tyr160Ter)
11g.72106107C>TCA475864874LRRC51,LRTOMT,TOMTc.156C>T (p.Tyr52=)
c.438-2498C>T (n.438-2498C>T)
c.124C>T (p.Arg42Cys)
c.255C>T (p.Tyr85=)
c.135C>T (p.Tyr45=)
c.658C>T (p.Arg220Cys)
n.313C>T
c.538C>T (p.Arg180Cys)
c.480C>T (p.Tyr160=)
 dbSNP gnomAD v2 gnomAD v4
11g.72106108G>ACA6168584LRRC51,LRTOMT,TOMTc.157G>A (p.Val53Met)
c.438-2497G>A (n.438-2497G>A)
c.125G>A (p.Arg42His)
c.256G>A (p.Val86Met)
c.136G>A (p.Val46Met)
c.659G>A (p.Arg220His)
n.314G>A
c.539G>A (p.Arg180His)
c.481G>A (p.Val161Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106108G>CCA381717819LRRC51,LRTOMT,TOMTc.157G>C (p.Val53Leu)
c.438-2497G>C (n.438-2497G>C)
c.125G>C (p.Arg42Pro)
c.256G>C (p.Val86Leu)
c.136G>C (p.Val46Leu)
c.659G>C (p.Arg220Pro)
n.314G>C
c.539G>C (p.Arg180Pro)
c.481G>C (p.Val161Leu)
11g.72106108G=CA1981839913LRRC51,LRTOMT,TOMTc.157G= (p.Val53=)
c.438-2497G= (n.438-2497G=)
c.125G= (p.Arg42=)
c.256G= (p.Val86=)
c.136G= (p.Val46=)
c.659G= (p.Arg220=)
n.314G=
c.539G= (p.Arg180=)
c.481G= (p.Val161=)
11g.72106108G>TCA381717821LRRC51,LRTOMT,TOMTc.157G>T (p.Val53Leu)
c.438-2497G>T (n.438-2497G>T)
c.125G>T (p.Arg42Leu)
c.256G>T (p.Val86Leu)
c.136G>T (p.Val46Leu)
c.659G>T (p.Arg220Leu)
n.314G>T
c.539G>T (p.Arg180Leu)
c.481G>T (p.Val161Leu)
 gnomAD v4
11g.72106109T>ACA381717828LRRC51,LRTOMT,TOMTc.158T>A (p.Val53Glu)
c.438-2496T>A (n.438-2496T>A)
c.126T>A (p.Arg42=)
c.257T>A (p.Val86Glu)
c.137T>A (p.Val46Glu)
c.660T>A (p.Arg220=)
n.315T>A
c.540T>A (p.Arg180=)
c.482T>A (p.Val161Glu)
11g.72106109T>CCA381717823LRRC51,LRTOMT,TOMTc.158T>C (p.Val53Ala)
c.438-2496T>C (n.438-2496T>C)
c.126T>C (p.Arg42=)
c.257T>C (p.Val86Ala)
c.137T>C (p.Val46Ala)
c.660T>C (p.Arg220=)
n.315T>C
c.540T>C (p.Arg180=)
c.482T>C (p.Val161Ala)
11g.72106109T>GCA381717826LRRC51,LRTOMT,TOMTc.158T>G (p.Val53Gly)
c.438-2496T>G (n.438-2496T>G)
c.126T>G (p.Arg42=)
c.257T>G (p.Val86Gly)
c.137T>G (p.Val46Gly)
c.660T>G (p.Arg220=)
n.315T>G
c.540T>G (p.Arg180=)
c.482T>G (p.Val161Gly)
 gnomAD v4
11g.72106110G>ACA475864875LRRC51,LRTOMT,TOMTc.159G>A (p.Val53=)
c.438-2495G>A (n.438-2495G>A)
c.127G>A (p.Ala43Thr)
c.258G>A (p.Val86=)
c.138G>A (p.Val46=)
c.661G>A (p.Ala221Thr)
n.316G>A
c.541G>A (p.Ala181Thr)
c.483G>A (p.Val161=)
 gnomAD v4
11g.72106110G>CCA475864876LRRC51,LRTOMT,TOMTc.159G>C (p.Val53=)
c.438-2495G>C (n.438-2495G>C)
c.127G>C (p.Ala43Pro)
c.258G>C (p.Val86=)
c.138G>C (p.Val46=)
c.661G>C (p.Ala221Pro)
n.316G>C
c.541G>C (p.Ala181Pro)
c.483G>C (p.Val161=)
11g.72106110G>TCA475864877LRRC51,LRTOMT,TOMTc.159G>T (p.Val53=)
c.438-2495G>T (n.438-2495G>T)
c.127G>T (p.Ala43Ser)
c.258G>T (p.Val86=)
c.138G>T (p.Val46=)
c.661G>T (p.Ala221Ser)
n.316G>T
c.541G>T (p.Ala181Ser)
c.483G>T (p.Val161=)
11g.72106111C>ACA381717830LRRC51,LRTOMT,TOMTc.160C>A (p.Leu54Ile)
c.438-2494C>A (n.438-2494C>A)
c.128C>A (p.Ala43Asp)
c.259C>A (p.Leu87Ile)
c.139C>A (p.Leu47Ile)
c.662C>A (p.Ala221Asp)
n.317C>A
c.542C>A (p.Ala181Asp)
c.484C>A (p.Leu162Ile)
11g.72106111C>GCA381717831LRRC51,LRTOMT,TOMTc.160C>G (p.Leu54Val)
c.438-2494C>G (n.438-2494C>G)
c.128C>G (p.Ala43Gly)
c.259C>G (p.Leu87Val)
c.139C>G (p.Leu47Val)
c.662C>G (p.Ala221Gly)
n.317C>G
c.542C>G (p.Ala181Gly)
c.484C>G (p.Leu162Val)
11g.72106111C>TCA381717833LRRC51,LRTOMT,TOMTc.160C>T (p.Leu54Phe)
c.438-2494C>T (n.438-2494C>T)
c.128C>T (p.Ala43Val)
c.259C>T (p.Leu87Phe)
c.139C>T (p.Leu47Phe)
c.662C>T (p.Ala221Val)
n.317C>T
c.542C>T (p.Ala181Val)
c.484C>T (p.Leu162Phe)
11g.72106112T>ACA381717836LRRC51,LRTOMT,TOMTc.161T>A (p.Leu54His)
c.438-2493T>A (n.438-2493T>A)
c.129T>A (p.Ala43=)
c.260T>A (p.Leu87His)
c.140T>A (p.Leu47His)
c.663T>A (p.Ala221=)
n.318T>A
c.543T>A (p.Ala181=)
c.485T>A (p.Leu162His)
11g.72106112T>CCA381717837LRRC51,LRTOMT,TOMTc.161T>C (p.Leu54Pro)
c.438-2493T>C (n.438-2493T>C)
c.129T>C (p.Ala43=)
c.260T>C (p.Leu87Pro)
c.140T>C (p.Leu47Pro)
c.663T>C (p.Ala221=)
n.318T>C
c.543T>C (p.Ala181=)
c.485T>C (p.Leu162Pro)
 gnomAD v4
11g.72106112T>GCA381717839LRRC51,LRTOMT,TOMTc.161T>G (p.Leu54Arg)
c.438-2493T>G (n.438-2493T>G)
c.129T>G (p.Ala43=)
c.260T>G (p.Leu87Arg)
c.140T>G (p.Leu47Arg)
c.663T>G (p.Ala221=)
n.318T>G
c.543T>G (p.Ala181=)
c.485T>G (p.Leu162Arg)
11g.72106113C>ACA475864878LRRC51,LRTOMT,TOMTc.162C>A (p.Leu54=)
c.438-2492C>A (n.438-2492C>A)
c.130C>A (p.His44Asn)
c.261C>A (p.Leu87=)
c.141C>A (p.Leu47=)
c.664C>A (p.His222Asn)
n.319C>A
c.544C>A (p.His182Asn)
c.486C>A (p.Leu162=)
 gnomAD v4
11g.72106113C=CA1981839914LRRC51,LRTOMT,TOMTc.162C= (p.Leu54=)
c.438-2492C= (n.438-2492C=)
c.130C= (p.His44=)
c.261C= (p.Leu87=)
c.141C= (p.Leu47=)
c.664C= (p.His222=)
n.319C=
c.544C= (p.His182=)
c.486C= (p.Leu162=)
11g.72106113C>GCA475864879LRRC51,LRTOMT,TOMTc.162C>G (p.Leu54=)
c.438-2492C>G (n.438-2492C>G)
c.130C>G (p.His44Asp)
c.261C>G (p.Leu87=)
c.141C>G (p.Leu47=)
c.664C>G (p.His222Asp)
n.319C>G
c.544C>G (p.His182Asp)
c.486C>G (p.Leu162=)
 gnomAD v4
11g.72106113C>TCA475864880LRRC51,LRTOMT,TOMTc.162C>T (p.Leu54=)
c.438-2492C>T (n.438-2492C>T)
c.130C>T (p.His44Tyr)
c.261C>T (p.Leu87=)
c.141C>T (p.Leu47=)
c.664C>T (p.His222Tyr)
n.319C>T
c.544C>T (p.His182Tyr)
c.486C>T (p.Leu162=)
 dbSNP gnomAD v2 gnomAD v4
11g.72106114A>CCA381717841LRRC51,LRTOMT,TOMTc.163A>C (p.Thr55Pro)
c.438-2491A>C (n.438-2491A>C)
c.131A>C (p.His44Pro)
c.262A>C (p.Thr88Pro)
c.142A>C (p.Thr48Pro)
c.665A>C (p.His222Pro)
n.320A>C
c.545A>C (p.His182Pro)
c.487A>C (p.Thr163Pro)
11g.72106114A>GCA381717843LRRC51,LRTOMT,TOMTc.163A>G (p.Thr55Ala)
c.438-2491A>G (n.438-2491A>G)
c.131A>G (p.His44Arg)
c.262A>G (p.Thr88Ala)
c.142A>G (p.Thr48Ala)
c.665A>G (p.His222Arg)
n.320A>G
c.545A>G (p.His182Arg)
c.487A>G (p.Thr163Ala)
11g.72106114A>TCA381717845LRRC51,LRTOMT,TOMTc.163A>T (p.Thr55Ser)
c.438-2491A>T (n.438-2491A>T)
c.131A>T (p.His44Leu)
c.262A>T (p.Thr88Ser)
c.142A>T (p.Thr48Ser)
c.665A>T (p.His222Leu)
n.320A>T
c.545A>T (p.His182Leu)
c.487A>T (p.Thr163Ser)
11g.72106115C>ACA381717848LRRC51,LRTOMT,TOMTc.164C>A (p.Thr55Asn)
c.438-2490C>A (n.438-2490C>A)
c.132C>A (p.His44Gln)
c.263C>A (p.Thr88Asn)
c.143C>A (p.Thr48Asn)
c.666C>A (p.His222Gln)
n.321C>A
c.546C>A (p.His182Gln)
c.488C>A (p.Thr163Asn)
11g.72106115C>GCA381717849LRRC51,LRTOMT,TOMTc.164C>G (p.Thr55Ser)
c.438-2490C>G (n.438-2490C>G)
c.132C>G (p.His44Gln)
c.263C>G (p.Thr88Ser)
c.143C>G (p.Thr48Ser)
c.666C>G (p.His222Gln)
n.321C>G
c.546C>G (p.His182Gln)
c.488C>G (p.Thr163Ser)
11g.72106115C>TCA381717851LRRC51,LRTOMT,TOMTc.164C>T (p.Thr55Ile)
c.438-2490C>T (n.438-2490C>T)
c.132C>T (p.His44=)
c.263C>T (p.Thr88Ile)
c.143C>T (p.Thr48Ile)
c.666C>T (p.His222=)
n.321C>T
c.546C>T (p.His182=)
c.488C>T (p.Thr163Ile)
11g.72106116C>ACA475864881LRRC51,LRTOMT,TOMTc.165C>A (p.Thr55=)
c.438-2489C>A (n.438-2489C>A)
c.133C>A (p.Pro45Thr)
c.264C>A (p.Thr88=)
c.144C>A (p.Thr48=)
c.667C>A (p.Pro223Thr)
n.322C>A
c.547C>A (p.Pro183Thr)
c.489C>A (p.Thr163=)
11g.72106116C>GCA475864882LRRC51,LRTOMT,TOMTc.165C>G (p.Thr55=)
c.438-2489C>G (n.438-2489C>G)
c.133C>G (p.Pro45Ala)
c.264C>G (p.Thr88=)
c.144C>G (p.Thr48=)
c.667C>G (p.Pro223Ala)
n.322C>G
c.547C>G (p.Pro183Ala)
c.489C>G (p.Thr163=)
11g.72106116C>TCA475864883LRRC51,LRTOMT,TOMTc.165C>T (p.Thr55=)
c.438-2489C>T (n.438-2489C>T)
c.133C>T (p.Pro45Ser)
c.264C>T (p.Thr88=)
c.144C>T (p.Thr48=)
c.667C>T (p.Pro223Ser)
n.322C>T
c.547C>T (p.Pro183Ser)
c.489C>T (p.Thr163=)
 gnomAD v4
11g.72106117C>ACA381717860LRRC51,LRTOMT,TOMTc.166C>A (p.His56Asn)
c.438-2488C>A (n.438-2488C>A)
c.134C>A (p.Pro45Gln)
c.265C>A (p.His89Asn)
c.145C>A (p.His49Asn)
c.668C>A (p.Pro223Gln)
n.323C>A
c.548C>A (p.Pro183Gln)
c.490C>A (p.His164Asn)
 gnomAD v4
11g.72106117C>GCA381717856LRRC51,LRTOMT,TOMTc.166C>G (p.His56Asp)
c.438-2488C>G (n.438-2488C>G)
c.134C>G (p.Pro45Arg)
c.265C>G (p.His89Asp)
c.145C>G (p.His49Asp)
c.668C>G (p.Pro223Arg)
n.323C>G
c.548C>G (p.Pro183Arg)
c.490C>G (p.His164Asp)
11g.72106117C>TCA381717854LRRC51,LRTOMT,TOMTc.166C>T (p.His56Tyr)
c.438-2488C>T (n.438-2488C>T)
c.134C>T (p.Pro45Leu)
c.265C>T (p.His89Tyr)
c.145C>T (p.His49Tyr)
c.668C>T (p.Pro223Leu)
n.323C>T
c.548C>T (p.Pro183Leu)
c.490C>T (p.His164Tyr)
11g.72106118A=CA1981839915LRRC51,LRTOMT,TOMTc.167A= (p.His56=)
c.438-2487A= (n.438-2487A=)
c.135A= (p.Pro45=)
c.266A= (p.His89=)
c.146A= (p.His49=)
c.669A= (p.Pro223=)
n.324A=
c.549A= (p.Pro183=)
c.491A= (p.His164=)
11g.72106118A>CCA381717862LRRC51,LRTOMT,TOMTc.167A>C (p.His56Pro)
c.438-2487A>C (n.438-2487A>C)
c.135A>C (p.Pro45=)
c.266A>C (p.His89Pro)
c.146A>C (p.His49Pro)
c.669A>C (p.Pro223=)
n.324A>C
c.549A>C (p.Pro183=)
c.491A>C (p.His164Pro)
11g.72106118A>GCA224374547LRRC51,LRTOMT,TOMTc.167A>G (p.His56Arg)
c.438-2487A>G (n.438-2487A>G)
c.135A>G (p.Pro45=)
c.266A>G (p.His89Arg)
c.146A>G (p.His49Arg)
c.669A>G (p.Pro223=)
n.324A>G
c.549A>G (p.Pro183=)
c.491A>G (p.His164Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106118A>TCA381717865LRRC51,LRTOMT,TOMTc.167A>T (p.His56Leu)
c.438-2487A>T (n.438-2487A>T)
c.135A>T (p.Pro45=)
c.266A>T (p.His89Leu)
c.146A>T (p.His49Leu)
c.669A>T (p.Pro223=)
n.324A>T
c.549A>T (p.Pro183=)
c.491A>T (p.His164Leu)
11g.72106119T>ACA381717868LRRC51,LRTOMT,TOMTc.168T>A (p.His56Gln)
c.438-2486T>A (n.438-2486T>A)
c.136T>A (p.Cys46Ser)
c.267T>A (p.His89Gln)
c.147T>A (p.His49Gln)
c.670T>A (p.Cys224Ser)
n.325T>A
c.550T>A (p.Cys184Ser)
c.492T>A (p.His164Gln)
11g.72106119T>CCA224374549LRRC51,LRTOMT,TOMTc.168T>C (p.His56=)
c.438-2486T>C (n.438-2486T>C)
c.136T>C (p.Cys46Arg)
c.267T>C (p.His89=)
c.147T>C (p.His49=)
c.670T>C (p.Cys224Arg)
n.325T>C
c.550T>C (p.Cys184Arg)
c.492T>C (p.His164=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106119T>GCA381717869LRRC51,LRTOMT,TOMTc.168T>G (p.His56Gln)
c.438-2486T>G (n.438-2486T>G)
c.136T>G (p.Cys46Gly)
c.267T>G (p.His89Gln)
c.147T>G (p.His49Gln)
c.670T>G (p.Cys224Gly)
n.325T>G
c.550T>G (p.Cys184Gly)
c.492T>G (p.His164Gln)
11g.72106119T=CA1981839916LRRC51,LRTOMT,TOMTc.168T= (p.His56=)
c.438-2486T= (n.438-2486T=)
c.136T= (p.Cys46=)
c.267T= (p.His89=)
c.147T= (p.His49=)
c.670T= (p.Cys224=)
n.325T=
c.550T= (p.Cys184=)
c.492T= (p.His164=)
11g.72106120G>ACA381717872LRRC51,LRTOMT,TOMTc.169G>A (p.Ala57Thr)
c.438-2485G>A (n.438-2485G>A)
c.137G>A (p.Cys46Tyr)
c.268G>A (p.Ala90Thr)
c.148G>A (p.Ala50Thr)
c.671G>A (p.Cys224Tyr)
n.326G>A
c.551G>A (p.Cys184Tyr)
c.493G>A (p.Ala165Thr)
11g.72106120G>CCA381717874LRRC51,LRTOMT,TOMTc.169G>C (p.Ala57Pro)
c.438-2485G>C (n.438-2485G>C)
c.137G>C (p.Cys46Ser)
c.268G>C (p.Ala90Pro)
c.148G>C (p.Ala50Pro)
c.671G>C (p.Cys224Ser)
n.326G>C
c.551G>C (p.Cys184Ser)
c.493G>C (p.Ala165Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106120G=CA1981839917LRRC51,LRTOMT,TOMTc.169G= (p.Ala57=)
c.438-2485G= (n.438-2485G=)
c.137G= (p.Cys46=)
c.268G= (p.Ala90=)
c.148G= (p.Ala50=)
c.671G= (p.Cys224=)
n.326G=
c.551G= (p.Cys184=)
c.493G= (p.Ala165=)
11g.72106120G>TCA381717876LRRC51,LRTOMT,TOMTc.169G>T (p.Ala57Ser)
c.438-2485G>T (n.438-2485G>T)
c.137G>T (p.Cys46Phe)
c.268G>T (p.Ala90Ser)
c.148G>T (p.Ala50Ser)
c.671G>T (p.Cys224Phe)
n.326G>T
c.551G>T (p.Cys184Phe)
c.493G>T (p.Ala165Ser)
 gnomAD v4
11g.72106121C>ACA381717879LRRC51,LRTOMT,TOMTc.170C>A (p.Ala57Asp)
c.438-2484C>A (n.438-2484C>A)
c.138C>A (p.Cys46Ter)
c.269C>A (p.Ala90Asp)
c.149C>A (p.Ala50Asp)
c.672C>A (p.Cys224Ter)
n.327C>A
c.552C>A (p.Cys184Ter)
c.494C>A (p.Ala165Asp)
 gnomAD v4
11g.72106121C>GCA381717881LRRC51,LRTOMT,TOMTc.170C>G (p.Ala57Gly)
c.438-2484C>G (n.438-2484C>G)
c.138C>G (p.Cys46Trp)
c.269C>G (p.Ala90Gly)
c.149C>G (p.Ala50Gly)
c.672C>G (p.Cys224Trp)
n.327C>G
c.552C>G (p.Cys184Trp)
c.494C>G (p.Ala165Gly)
11g.72106121C>TCA381717883LRRC51,LRTOMT,TOMTc.170C>T (p.Ala57Val)
c.438-2484C>T (n.438-2484C>T)
c.138C>T (p.Cys46=)
c.269C>T (p.Ala90Val)
c.149C>T (p.Ala50Val)
c.672C>T (p.Cys224=)
n.327C>T
c.552C>T (p.Cys184=)
c.494C>T (p.Ala165Val)
11g.72106122C>ACA475864885LRRC51,LRTOMT,TOMTc.171C>A (p.Ala57=)
c.438-2483C>A (n.438-2483C>A)
c.139C>A (p.Pro47Thr)
c.270C>A (p.Ala90=)
c.150C>A (p.Ala50=)
c.673C>A (p.Pro225Thr)
n.328C>A
c.553C>A (p.Pro185Thr)
c.495C>A (p.Ala165=)
11g.72106122C=CA1981839918LRRC51,LRTOMT,TOMTc.171C= (p.Ala57=)
c.438-2483C= (n.438-2483C=)
c.139C= (p.Pro47=)
c.270C= (p.Ala90=)
c.150C= (p.Ala50=)
c.673C= (p.Pro225=)
n.328C=
c.553C= (p.Pro185=)
c.495C= (p.Ala165=)
11g.72106122C>GCA475864886LRRC51,LRTOMT,TOMTc.171C>G (p.Ala57=)
c.438-2483C>G (n.438-2483C>G)
c.139C>G (p.Pro47Ala)
c.270C>G (p.Ala90=)
c.150C>G (p.Ala50=)
c.673C>G (p.Pro225Ala)
n.328C>G
c.553C>G (p.Pro185Ala)
c.495C>G (p.Ala165=)
11g.72106122C>TCA475864884LRRC51,LRTOMT,TOMTc.171C>T (p.Ala57=)
c.438-2483C>T (n.438-2483C>T)
c.139C>T (p.Pro47Ser)
c.270C>T (p.Ala90=)
c.150C>T (p.Ala50=)
c.673C>T (p.Pro225Ser)
n.328C>T
c.553C>T (p.Pro185Ser)
c.495C>T (p.Ala165=)
 dbSNP gnomAD v3 gnomAD v4
11g.72106123C>ACA381717885LRRC51,LRTOMT,TOMTc.172C>A (p.Leu58Met)
c.438-2482C>A (n.438-2482C>A)
c.140C>A (p.Pro47His)
c.271C>A (p.Leu91Met)
c.151C>A (p.Leu51Met)
c.674C>A (p.Pro225His)
n.329C>A
c.554C>A (p.Pro185His)
c.496C>A (p.Leu166Met)
11g.72106123C=CA1981839919LRRC51,LRTOMT,TOMTc.172C= (p.Leu58=)
c.438-2482C= (n.438-2482C=)
c.140C= (p.Pro47=)
c.271C= (p.Leu91=)
c.151C= (p.Leu51=)
c.674C= (p.Pro225=)
n.329C=
c.554C= (p.Pro185=)
c.496C= (p.Leu166=)
11g.72106123C>GCA381717887LRRC51,LRTOMT,TOMTc.172C>G (p.Leu58Val)
c.438-2482C>G (n.438-2482C>G)
c.140C>G (p.Pro47Arg)
c.271C>G (p.Leu91Val)
c.151C>G (p.Leu51Val)
c.674C>G (p.Pro225Arg)
n.329C>G
c.554C>G (p.Pro185Arg)
c.496C>G (p.Leu166Val)
 dbSNP
11g.72106123C>TCA475864887LRRC51,LRTOMT,TOMTc.172C>T (p.Leu58=)
c.438-2482C>T (n.438-2482C>T)
c.140C>T (p.Pro47Leu)
c.271C>T (p.Leu91=)
c.151C>T (p.Leu51=)
c.674C>T (p.Pro225Leu)
n.329C>T
c.554C>T (p.Pro185Leu)
c.496C>T (p.Leu166=)
 gnomAD v4
11g.72106124T>ACA381717891LRRC51,LRTOMT,TOMTc.173T>A (p.Leu58Gln)
c.438-2481T>A (n.438-2481T>A)
c.141T>A (p.Pro47=)
c.272T>A (p.Leu91Gln)
c.152T>A (p.Leu51Gln)
c.675T>A (p.Pro225=)
n.330T>A
c.555T>A (p.Pro185=)
c.497T>A (p.Leu166Gln)
11g.72106124T>CCA381717893LRRC51,LRTOMT,TOMTc.173T>C (p.Leu58Pro)
c.438-2481T>C (n.438-2481T>C)
c.141T>C (p.Pro47=)
c.272T>C (p.Leu91Pro)
c.152T>C (p.Leu51Pro)
c.675T>C (p.Pro225=)
n.330T>C
c.555T>C (p.Pro185=)
c.497T>C (p.Leu166Pro)
11g.72106124T>GCA381717890LRRC51,LRTOMT,TOMTc.173T>G (p.Leu58Arg)
c.438-2481T>G (n.438-2481T>G)
c.141T>G (p.Pro47=)
c.272T>G (p.Leu91Arg)
c.152T>G (p.Leu51Arg)
c.675T>G (p.Pro225=)
n.330T>G
c.555T>G (p.Pro185=)
c.497T>G (p.Leu166Arg)
11g.72106125G>ACA475864890LRRC51,LRTOMT,TOMTc.174G>A (p.Leu58=)
c.438-2480G>A (n.438-2480G>A)
c.142G>A (p.Ala48Thr)
c.273G>A (p.Leu91=)
c.153G>A (p.Leu51=)
c.676G>A (p.Ala226Thr)
n.331G>A
c.556G>A (p.Ala186Thr)
c.498G>A (p.Leu166=)
 gnomAD v4
11g.72106125G>CCA475864889LRRC51,LRTOMT,TOMTc.174G>C (p.Leu58=)
c.438-2480G>C (n.438-2480G>C)
c.142G>C (p.Ala48Pro)
c.273G>C (p.Leu91=)
c.153G>C (p.Leu51=)
c.676G>C (p.Ala226Pro)
n.331G>C
c.556G>C (p.Ala186Pro)
c.498G>C (p.Leu166=)
11g.72106125G>TCA475864888LRRC51,LRTOMT,TOMTc.174G>T (p.Leu58=)
c.438-2480G>T (n.438-2480G>T)
c.142G>T (p.Ala48Ser)
c.273G>T (p.Leu91=)
c.153G>T (p.Leu51=)
c.676G>T (p.Ala226Ser)
n.331G>T
c.556G>T (p.Ala186Ser)
c.498G>T (p.Leu166=)
11g.72106126C>ACA381717895LRRC51,LRTOMT,TOMTc.175C>A (p.Pro59Thr)
c.438-2479C>A (n.438-2479C>A)
c.143C>A (p.Ala48Asp)
c.274C>A (p.Pro92Thr)
c.154C>A (p.Pro52Thr)
c.677C>A (p.Ala226Asp)
n.332C>A
c.557C>A (p.Ala186Asp)
c.499C>A (p.Pro167Thr)
11g.72106126C=CA1981839920LRRC51,LRTOMT,TOMTc.175C= (p.Pro59=)
c.438-2479C= (n.438-2479C=)
c.143C= (p.Ala48=)
c.274C= (p.Pro92=)
c.154C= (p.Pro52=)
c.677C= (p.Ala226=)
n.332C=
c.557C= (p.Ala186=)
c.499C= (p.Pro167=)
11g.72106126C>GCA381717898LRRC51,LRTOMT,TOMTc.175C>G (p.Pro59Ala)
c.438-2479C>G (n.438-2479C>G)
c.143C>G (p.Ala48Gly)
c.274C>G (p.Pro92Ala)
c.154C>G (p.Pro52Ala)
c.677C>G (p.Ala226Gly)
n.332C>G
c.557C>G (p.Ala186Gly)
c.499C>G (p.Pro167Ala)
 gnomAD v4
11g.72106126C>TCA224374554LRRC51,LRTOMT,TOMTc.175C>T (p.Pro59Ser)
c.438-2479C>T (n.438-2479C>T)
c.143C>T (p.Ala48Val)
c.274C>T (p.Pro92Ser)
c.154C>T (p.Pro52Ser)
c.677C>T (p.Ala226Val)
n.332C>T
c.557C>T (p.Ala186Val)
c.499C>T (p.Pro167Ser)
 dbSNP gnomAD v4
11g.72106127C>ACA381717902LRRC51,LRTOMT,TOMTc.176C>A (p.Pro59His)
c.438-2478C>A (n.438-2478C>A)
c.144C>A (p.Ala48=)
c.275C>A (p.Pro92His)
c.155C>A (p.Pro52His)
c.678C>A (p.Ala226=)
n.333C>A
c.558C>A (p.Ala186=)
c.500C>A (p.Pro167His)
11g.72106127C>GCA381717903LRRC51,LRTOMT,TOMTc.176C>G (p.Pro59Arg)
c.438-2478C>G (n.438-2478C>G)
c.144C>G (p.Ala48=)
c.275C>G (p.Pro92Arg)
c.155C>G (p.Pro52Arg)
c.678C>G (p.Ala226=)
n.333C>G
c.558C>G (p.Ala186=)
c.500C>G (p.Pro167Arg)
11g.72106127C>TCA381717905LRRC51,LRTOMT,TOMTc.176C>T (p.Pro59Leu)
c.438-2478C>T (n.438-2478C>T)
c.144C>T (p.Ala48=)
c.275C>T (p.Pro92Leu)
c.155C>T (p.Pro52Leu)
c.678C>T (p.Ala226=)
n.333C>T
c.558C>T (p.Ala186=)
c.500C>T (p.Pro167Leu)
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=)

Number of alleles fetched