Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched