Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.72106008_72106037dupCA939434508LRRC51,LRTOMT,TOMTc.57_86dup (p.Arg29_Thr30insTyrArgHisTyrPheArgLeuLeuValArg)
c.438-2597_438-2568dup (n.438-2597_438-2568dup)
c.73-48_73-19dup (n.73-48_73-19dup)
c.156_185dup (p.Arg62_Thr63insTyrArgHisTyrPheArgLeuLeuValArg)
c.84-48_84-19dup (n.84-48_84-19dup)
c.559_588dup (p.Ala196_His197insValProAlaLeuLeuProIleAlaGlyAla)
n.214_243dup
c.487-48_487-19dup (n.487-48_487-19dup)
c.381_410dup (p.Arg137_Thr138insTyrArgHisTyrPheArgLeuLeuValArg)
 dbSNP gnomAD v3 gnomAD v4
11g.72106008_72106037delCA600242548LRRC51,LRTOMT,TOMTc.57_86del (p.Tyr20_Arg29del)
c.438-2597_438-2568del (n.438-2597_438-2568del)
c.73-48_73-19del (n.73-48_73-19del)
c.156_185del (p.Tyr53_Arg62del)
c.84-48_84-19del (n.84-48_84-19del)
c.559_588del (p.Val187_Ala196del)
n.214_243del
c.487-48_487-19del (n.487-48_487-19del)
c.381_410del (p.Tyr128_Arg137del)
 dbSNP gnomAD v2 gnomAD v4
11g.72106028T>ACA381717332LRRC51,LRTOMT,TOMTc.77T>A (p.Leu26Ter)
c.438-2577T>A (n.438-2577T>A)
c.73-28T>A (n.73-28T>A)
c.176T>A (p.Leu59Ter)
c.84-28T>A (n.84-28T>A)
c.579T>A (p.Ile193=)
n.234T>A
c.487-28T>A (n.487-28T>A)
c.401T>A (p.Leu134Ter)
11g.72106028T>CCA381717328LRRC51,LRTOMT,TOMTc.77T>C (p.Leu26Ser)
c.438-2577T>C (n.438-2577T>C)
c.73-28T>C (n.73-28T>C)
c.176T>C (p.Leu59Ser)
c.84-28T>C (n.84-28T>C)
c.579T>C (p.Ile193=)
n.234T>C
c.487-28T>C (n.487-28T>C)
c.401T>C (p.Leu134Ser)
11g.72106028T>GCA381717325LRRC51,LRTOMT,TOMTc.77T>G (p.Leu26Trp)
c.438-2577T>G (n.438-2577T>G)
c.73-28T>G (n.73-28T>G)
c.176T>G (p.Leu59Trp)
c.84-28T>G (n.84-28T>G)
c.579T>G (p.Ile193Met)
n.234T>G
c.487-28T>G (n.487-28T>G)
c.401T>G (p.Leu134Trp)
11g.72106029G>ACA475864811LRRC51,LRTOMT,TOMTc.78G>A (p.Leu26=)
c.438-2576G>A (n.438-2576G>A)
c.73-27G>A (n.73-27G>A)
c.177G>A (p.Leu59=)
c.84-27G>A (n.84-27G>A)
c.580G>A (p.Ala194Thr)
n.235G>A
c.487-27G>A (n.487-27G>A)
c.402G>A (p.Leu134=)
11g.72106029G>CCA381717342LRRC51,LRTOMT,TOMTc.78G>C (p.Leu26Phe)
c.438-2576G>C (n.438-2576G>C)
c.73-27G>C (n.73-27G>C)
c.177G>C (p.Leu59Phe)
c.84-27G>C (n.84-27G>C)
c.580G>C (p.Ala194Pro)
n.235G>C
c.487-27G>C (n.487-27G>C)
c.402G>C (p.Leu134Phe)
 dbSNP gnomAD v2 gnomAD v4
11g.72106029G=CA1981839873LRRC51,LRTOMT,TOMTc.78G= (p.Leu26=)
c.438-2576G= (n.438-2576G=)
c.73-27G= (n.73-27G=)
c.177G= (p.Leu59=)
c.84-27G= (n.84-27G=)
c.580G= (p.Ala194=)
n.235G=
c.487-27G= (n.487-27G=)
c.402G= (p.Leu134=)
11g.72106029G>TCA381717344LRRC51,LRTOMT,TOMTc.78G>T (p.Leu26Phe)
c.438-2576G>T (n.438-2576G>T)
c.73-27G>T (n.73-27G>T)
c.177G>T (p.Leu59Phe)
c.84-27G>T (n.84-27G>T)
c.580G>T (p.Ala194Ser)
n.235G>T
c.487-27G>T (n.487-27G>T)
c.402G>T (p.Leu134Phe)
11g.72106030C>ACA381717367LRRC51,LRTOMT,TOMTc.79C>A (p.Leu27Met)
c.438-2575C>A (n.438-2575C>A)
c.73-26C>A (n.73-26C>A)
c.178C>A (p.Leu60Met)
c.84-26C>A (n.84-26C>A)
c.581C>A (p.Ala194Asp)
n.236C>A
c.487-26C>A (n.487-26C>A)
c.403C>A (p.Leu135Met)
11g.72106030C>GCA381717370LRRC51,LRTOMT,TOMTc.79C>G (p.Leu27Val)
c.438-2575C>G (n.438-2575C>G)
c.73-26C>G (n.73-26C>G)
c.178C>G (p.Leu60Val)
c.84-26C>G (n.84-26C>G)
c.581C>G (p.Ala194Gly)
n.236C>G
c.487-26C>G (n.487-26C>G)
c.403C>G (p.Leu135Val)
11g.72106030C>TCA475864812LRRC51,LRTOMT,TOMTc.79C>T (p.Leu27=)
c.438-2575C>T (n.438-2575C>T)
c.73-26C>T (n.73-26C>T)
c.178C>T (p.Leu60=)
c.84-26C>T (n.84-26C>T)
c.581C>T (p.Ala194Val)
n.236C>T
c.487-26C>T (n.487-26C>T)
c.403C>T (p.Leu135=)
11g.72106031T>ACA381717377LRRC51,LRTOMT,TOMTc.80T>A (p.Leu27Gln)
c.438-2574T>A (n.438-2574T>A)
c.73-25T>A (n.73-25T>A)
c.179T>A (p.Leu60Gln)
c.84-25T>A (n.84-25T>A)
c.582T>A (p.Ala194=)
n.237T>A
c.487-25T>A (n.487-25T>A)
c.404T>A (p.Leu135Gln)
11g.72106031T>CCA381717379LRRC51,LRTOMT,TOMTc.80T>C (p.Leu27Pro)
c.438-2574T>C (n.438-2574T>C)
c.73-25T>C (n.73-25T>C)
c.179T>C (p.Leu60Pro)
c.84-25T>C (n.84-25T>C)
c.582T>C (p.Ala194=)
n.237T>C
c.487-25T>C (n.487-25T>C)
c.404T>C (p.Leu135Pro)
 ClinVar
11g.72106031T>GCA381717381LRRC51,LRTOMT,TOMTc.80T>G (p.Leu27Arg)
c.438-2574T>G (n.438-2574T>G)
c.73-25T>G (n.73-25T>G)
c.179T>G (p.Leu60Arg)
c.84-25T>G (n.84-25T>G)
c.582T>G (p.Ala194=)
n.237T>G
c.487-25T>G (n.487-25T>G)
c.404T>G (p.Leu135Arg)
11g.72106032G>ACA475864813LRRC51,LRTOMT,TOMTc.81G>A (p.Leu27=)
c.438-2573G>A (n.438-2573G>A)
c.73-24G>A (n.73-24G>A)
c.180G>A (p.Leu60=)
c.84-24G>A (n.84-24G>A)
c.583G>A (p.Gly195Ser)
n.238G>A
c.487-24G>A (n.487-24G>A)
c.405G>A (p.Leu135=)
 dbSNP gnomAD v3 gnomAD v4
11g.72106032G>CCA475864815LRRC51,LRTOMT,TOMTc.81G>C (p.Leu27=)
c.438-2573G>C (n.438-2573G>C)
c.73-24G>C (n.73-24G>C)
c.180G>C (p.Leu60=)
c.84-24G>C (n.84-24G>C)
c.583G>C (p.Gly195Arg)
n.238G>C
c.487-24G>C (n.487-24G>C)
c.405G>C (p.Leu135=)
 dbSNP
11g.72106032G=CA1981839874LRRC51,LRTOMT,TOMTc.81G= (p.Leu27=)
c.438-2573G= (n.438-2573G=)
c.73-24G= (n.73-24G=)
c.180G= (p.Leu60=)
c.84-24G= (n.84-24G=)
c.583G= (p.Gly195=)
n.238G=
c.487-24G= (n.487-24G=)
c.405G= (p.Leu135=)
11g.72106032G>TCA475864814LRRC51,LRTOMT,TOMTc.81G>T (p.Leu27=)
c.438-2573G>T (n.438-2573G>T)
c.73-24G>T (n.73-24G>T)
c.180G>T (p.Leu60=)
c.84-24G>T (n.84-24G>T)
c.583G>T (p.Gly195Cys)
n.238G>T
c.487-24G>T (n.487-24G>T)
c.405G>T (p.Leu135=)
11g.72106033delCA2614917432LRRC51,LRTOMT,TOMTc.82del (p.Val28CysfsTer?)
c.438-2572del (n.438-2572del)
c.73-23del (n.73-23del)
c.181del (p.Val61CysfsTer?)
c.84-23del (n.84-23del)
c.584del (p.Gly195ValfsTer?)
n.239del
c.487-23del (n.487-23del)
c.406del (p.Val136CysfsTer?)
 gnomAD v4
11g.72106033G>ACA381717389LRRC51,LRTOMT,TOMTc.82G>A (p.Val28Met)
c.438-2572G>A (n.438-2572G>A)
c.73-23G>A (n.73-23G>A)
c.181G>A (p.Val61Met)
c.84-23G>A (n.84-23G>A)
c.584G>A (p.Gly195Asp)
n.239G>A
c.487-23G>A (n.487-23G>A)
c.406G>A (p.Val136Met)
11g.72106033G>CCA381717391LRRC51,LRTOMT,TOMTc.82G>C (p.Val28Leu)
c.438-2572G>C (n.438-2572G>C)
c.73-23G>C (n.73-23G>C)
c.181G>C (p.Val61Leu)
c.84-23G>C (n.84-23G>C)
c.584G>C (p.Gly195Ala)
n.239G>C
c.487-23G>C (n.487-23G>C)
c.406G>C (p.Val136Leu)
11g.72106033G>TCA381717394LRRC51,LRTOMT,TOMTc.82G>T (p.Val28Leu)
c.438-2572G>T (n.438-2572G>T)
c.73-23G>T (n.73-23G>T)
c.181G>T (p.Val61Leu)
c.84-23G>T (n.84-23G>T)
c.584G>T (p.Gly195Val)
n.239G>T
c.487-23G>T (n.487-23G>T)
c.406G>T (p.Val136Leu)
11g.72106033_72106036delinsGTGCCA1981839875LRRC51,LRTOMT,TOMTc.82_85delinsGTGC (p.Val28=)
c.438-2572_438-2569delinsGTGC (n.438-2572_438-2569delinsGTGC)
c.73-23_73-20delinsGTGC (n.73-23_73-20delinsGTGC)
c.181_184delinsGTGC (p.Val61=)
c.84-23_84-20delinsGTGC (n.84-23_84-20delinsGTGC)
c.584_587delinsGTGC (p.Gly195=)
n.239_242delinsGTGC
c.487-23_487-20delinsGTGC (n.487-23_487-20delinsGTGC)
c.406_409delinsGTGC (p.Val136=)
11g.72106034T>ACA381717395LRRC51,LRTOMT,TOMTc.83T>A (p.Val28Glu)
c.438-2571T>A (n.438-2571T>A)
c.73-22T>A (n.73-22T>A)
c.182T>A (p.Val61Glu)
c.84-22T>A (n.84-22T>A)
c.585T>A (p.Gly195=)
n.240T>A
c.487-22T>A (n.487-22T>A)
c.407T>A (p.Val136Glu)
11g.72106034T>CCA381717396LRRC51,LRTOMT,TOMTc.83T>C (p.Val28Ala)
c.438-2571T>C (n.438-2571T>C)
c.73-22T>C (n.73-22T>C)
c.182T>C (p.Val61Ala)
c.84-22T>C (n.84-22T>C)
c.585T>C (p.Gly195=)
n.240T>C
c.487-22T>C (n.487-22T>C)
c.407T>C (p.Val136Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106034T>GCA381717398LRRC51,LRTOMT,TOMTc.83T>G (p.Val28Gly)
c.438-2571T>G (n.438-2571T>G)
c.73-22T>G (n.73-22T>G)
c.182T>G (p.Val61Gly)
c.84-22T>G (n.84-22T>G)
c.585T>G (p.Gly195=)
n.240T>G
c.487-22T>G (n.487-22T>G)
c.407T>G (p.Val136Gly)
11g.72106034T=CA1981839876LRRC51,LRTOMT,TOMTc.83T= (p.Val28=)
c.438-2571T= (n.438-2571T=)
c.73-22T= (n.73-22T=)
c.182T= (p.Val61=)
c.84-22T= (n.84-22T=)
c.585T= (p.Gly195=)
n.240T=
c.487-22T= (n.487-22T=)
c.407T= (p.Val136=)
11g.72106034_72106036delCA600242549LRRC51,LRTOMT,TOMTc.83_85del (p.Val28_Arg29delinsGly)
c.438-2571_438-2569del (n.438-2571_438-2569del)
c.73-22_73-20del (n.73-22_73-20del)
c.182_184del (p.Val61_Arg62delinsGly)
c.84-22_84-20del (n.84-22_84-20del)
c.585_587del (p.Ala196del)
n.240_242del
c.487-22_487-20del (n.487-22_487-20del)
c.407_409del (p.Val136_Arg137delinsGly)
 dbSNP gnomAD v2
11g.72106035G>ACA475864816LRRC51,LRTOMT,TOMTc.84G>A (p.Val28=)
c.438-2570G>A (n.438-2570G>A)
c.73-21G>A (n.73-21G>A)
c.183G>A (p.Val61=)
c.84-21G>A (n.84-21G>A)
c.586G>A (p.Ala196Thr)
n.241G>A
c.487-21G>A (n.487-21G>A)
c.408G>A (p.Val136=)
 dbSNP gnomAD v3 gnomAD v4
11g.72106035G>CCA475864817LRRC51,LRTOMT,TOMTc.84G>C (p.Val28=)
c.438-2570G>C (n.438-2570G>C)
c.73-21G>C (n.73-21G>C)
c.183G>C (p.Val61=)
c.84-21G>C (n.84-21G>C)
c.586G>C (p.Ala196Pro)
n.241G>C
c.487-21G>C (n.487-21G>C)
c.408G>C (p.Val136=)
11g.72106035G=CA1981839877LRRC51,LRTOMT,TOMTc.84G= (p.Val28=)
c.438-2570G= (n.438-2570G=)
c.73-21G= (n.73-21G=)
c.183G= (p.Val61=)
c.84-21G= (n.84-21G=)
c.586G= (p.Ala196=)
n.241G=
c.487-21G= (n.487-21G=)
c.408G= (p.Val136=)
11g.72106035G>TCA475864818LRRC51,LRTOMT,TOMTc.84G>T (p.Val28=)
c.438-2570G>T (n.438-2570G>T)
c.73-21G>T (n.73-21G>T)
c.183G>T (p.Val61=)
c.84-21G>T (n.84-21G>T)
c.586G>T (p.Ala196Ser)
n.241G>T
c.487-21G>T (n.487-21G>T)
c.408G>T (p.Val136=)
11g.72106036C>ACA381717405LRRC51,LRTOMT,TOMTc.85C>A (p.Arg29Ser)
c.438-2569C>A (n.438-2569C>A)
c.73-20C>A (n.73-20C>A)
c.184C>A (p.Arg62Ser)
c.84-20C>A (n.84-20C>A)
c.587C>A (p.Ala196Glu)
n.242C>A
c.487-20C>A (n.487-20C>A)
c.409C>A (p.Arg137Ser)
11g.72106036C=CA1981839878LRRC51,LRTOMT,TOMTc.85C= (p.Arg29=)
c.438-2569C= (n.438-2569C=)
c.73-20C= (n.73-20C=)
c.184C= (p.Arg62=)
c.84-20C= (n.84-20C=)
c.587C= (p.Ala196=)
n.242C=
c.487-20C= (n.487-20C=)
c.409C= (p.Arg137=)
11g.72106036C>GCA381717408LRRC51,LRTOMT,TOMTc.85C>G (p.Arg29Gly)
c.438-2569C>G (n.438-2569C>G)
c.73-20C>G (n.73-20C>G)
c.184C>G (p.Arg62Gly)
c.84-20C>G (n.84-20C>G)
c.587C>G (p.Ala196Gly)
n.242C>G
c.487-20C>G (n.487-20C>G)
c.409C>G (p.Arg137Gly)
11g.72106036C>TCA6168573LRRC51,LRTOMT,TOMTc.85C>T (p.Arg29Cys)
c.438-2569C>T (n.438-2569C>T)
c.73-20C>T (n.73-20C>T)
c.184C>T (p.Arg62Cys)
c.84-20C>T (n.84-20C>T)
c.587C>T (p.Ala196Val)
n.242C>T
c.487-20C>T (n.487-20C>T)
c.409C>T (p.Arg137Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106037G>ACA6168574LRRC51,LRTOMT,TOMTc.86G>A (p.Arg29His)
c.438-2568G>A (n.438-2568G>A)
c.73-19G>A (n.73-19G>A)
c.185G>A (p.Arg62His)
c.84-19G>A (n.84-19G>A)
c.588G>A (p.Ala196=)
n.243G>A
c.487-19G>A (n.487-19G>A)
c.410G>A (p.Arg137His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106037G>CCA381717426LRRC51,LRTOMT,TOMTc.86G>C (p.Arg29Pro)
c.438-2568G>C (n.438-2568G>C)
c.73-19G>C (n.73-19G>C)
c.185G>C (p.Arg62Pro)
c.84-19G>C (n.84-19G>C)
c.588G>C (p.Ala196=)
n.243G>C
c.487-19G>C (n.487-19G>C)
c.410G>C (p.Arg137Pro)
11g.72106037G=CA1981839879LRRC51,LRTOMT,TOMTc.86G= (p.Arg29=)
c.438-2568G= (n.438-2568G=)
c.73-19G= (n.73-19G=)
c.185G= (p.Arg62=)
c.84-19G= (n.84-19G=)
c.588G= (p.Ala196=)
n.243G=
c.487-19G= (n.487-19G=)
c.410G= (p.Arg137=)
11g.72106037G>TCA381717423LRRC51,LRTOMT,TOMTc.86G>T (p.Arg29Leu)
c.438-2568G>T (n.438-2568G>T)
c.73-19G>T (n.73-19G>T)
c.185G>T (p.Arg62Leu)
c.84-19G>T (n.84-19G>T)
c.588G>T (p.Ala196=)
n.243G>T
c.487-19G>T (n.487-19G>T)
c.410G>T (p.Arg137Leu)
11g.72106038C>ACA475864819LRRC51,LRTOMT,TOMTc.87C>A (p.Arg29=)
c.438-2567C>A (n.438-2567C>A)
c.73-18C>A (n.73-18C>A)
c.186C>A (p.Arg62=)
c.84-18C>A (n.84-18C>A)
c.589C>A (p.His197Asn)
n.244C>A
c.487-18C>A (n.487-18C>A)
c.411C>A (p.Arg137=)
11g.72106038C>GCA475864820LRRC51,LRTOMT,TOMTc.87C>G (p.Arg29=)
c.438-2567C>G (n.438-2567C>G)
c.73-18C>G (n.73-18C>G)
c.186C>G (p.Arg62=)
c.84-18C>G (n.84-18C>G)
c.589C>G (p.His197Asp)
n.244C>G
c.487-18C>G (n.487-18C>G)
c.411C>G (p.Arg137=)
11g.72106038C>TCA475864821LRRC51,LRTOMT,TOMTc.87C>T (p.Arg29=)
c.438-2567C>T (n.438-2567C>T)
c.73-18C>T (n.73-18C>T)
c.186C>T (p.Arg62=)
c.84-18C>T (n.84-18C>T)
c.589C>T (p.His197Tyr)
n.244C>T
c.487-18C>T (n.487-18C>T)
c.411C>T (p.Arg137=)
11g.72106039A>CCA381717431LRRC51,LRTOMT,TOMTc.88A>C (p.Thr30Pro)
c.438-2566A>C (n.438-2566A>C)
c.73-17A>C (n.73-17A>C)
c.187A>C (p.Thr63Pro)
c.84-17A>C (n.84-17A>C)
c.590A>C (p.His197Pro)
n.245A>C
c.487-17A>C (n.487-17A>C)
c.412A>C (p.Thr138Pro)
11g.72106039A>GCA381717437LRRC51,LRTOMT,TOMTc.88A>G (p.Thr30Ala)
c.438-2566A>G (n.438-2566A>G)
c.73-17A>G (n.73-17A>G)
c.187A>G (p.Thr63Ala)
c.84-17A>G (n.84-17A>G)
c.590A>G (p.His197Arg)
n.245A>G
c.487-17A>G (n.487-17A>G)
c.412A>G (p.Thr138Ala)
 gnomAD v4
11g.72106039A>TCA381717434LRRC51,LRTOMT,TOMTc.88A>T (p.Thr30Ser)
c.438-2566A>T (n.438-2566A>T)
c.73-17A>T (n.73-17A>T)
c.187A>T (p.Thr63Ser)
c.84-17A>T (n.84-17A>T)
c.590A>T (p.His197Leu)
n.245A>T
c.487-17A>T (n.487-17A>T)
c.412A>T (p.Thr138Ser)
11g.72106040C>ACA381717442LRRC51,LRTOMT,TOMTc.89C>A (p.Thr30Lys)
c.438-2565C>A (n.438-2565C>A)
c.73-16C>A (n.73-16C>A)
c.188C>A (p.Thr63Lys)
c.84-16C>A (n.84-16C>A)
c.591C>A (p.His197Gln)
n.246C>A
c.487-16C>A (n.487-16C>A)
c.413C>A (p.Thr138Lys)
 gnomAD v4
11g.72106040C=CA1981839880LRRC51,LRTOMT,TOMTc.89C= (p.Thr30=)
c.438-2565C= (n.438-2565C=)
c.73-16C= (n.73-16C=)
c.188C= (p.Thr63=)
c.84-16C= (n.84-16C=)
c.591C= (p.His197=)
n.246C=
c.487-16C= (n.487-16C=)
c.413C= (p.Thr138=)
11g.72106040C>GCA381717444LRRC51,LRTOMT,TOMTc.89C>G (p.Thr30Arg)
c.438-2565C>G (n.438-2565C>G)
c.73-16C>G (n.73-16C>G)
c.188C>G (p.Thr63Arg)
c.84-16C>G (n.84-16C>G)
c.591C>G (p.His197Gln)
n.246C>G
c.487-16C>G (n.487-16C>G)
c.413C>G (p.Thr138Arg)
11g.72106040C>TCA10576898LRRC51,LRTOMT,TOMTc.89C>T (p.Thr30Met)
c.438-2565C>T (n.438-2565C>T)
c.73-16C>T (n.73-16C>T)
c.188C>T (p.Thr63Met)
c.84-16C>T (n.84-16C>T)
c.591C>T (p.His197=)
n.246C>T
c.487-16C>T (n.487-16C>T)
c.413C>T (p.Thr138Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106041G>ACA6168575LRRC51,LRTOMT,TOMTc.90G>A (p.Thr30=)
c.438-2564G>A (n.438-2564G>A)
c.73-15G>A (n.73-15G>A)
c.189G>A (p.Thr63=)
c.84-15G>A (n.84-15G>A)
c.592G>A (p.Gly198Ser)
n.247G>A
c.487-15G>A (n.487-15G>A)
c.414G>A (p.Thr138=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.72106041G>CCA475864822LRRC51,LRTOMT,TOMTc.90G>C (p.Thr30=)
c.438-2564G>C (n.438-2564G>C)
c.73-15G>C (n.73-15G>C)
c.189G>C (p.Thr63=)
c.84-15G>C (n.84-15G>C)
c.592G>C (p.Gly198Arg)
n.247G>C
c.487-15G>C (n.487-15G>C)
c.414G>C (p.Thr138=)
 dbSNP gnomAD v2 gnomAD v4
11g.72106041G=CA1981839881LRRC51,LRTOMT,TOMTc.90G= (p.Thr30=)
c.438-2564G= (n.438-2564G=)
c.73-15G= (n.73-15G=)
c.189G= (p.Thr63=)
c.84-15G= (n.84-15G=)
c.592G= (p.Gly198=)
n.247G=
c.487-15G= (n.487-15G=)
c.414G= (p.Thr138=)
11g.72106041G>TCA475864823LRRC51,LRTOMT,TOMTc.90G>T (p.Thr30=)
c.438-2564G>T (n.438-2564G>T)
c.73-15G>T (n.73-15G>T)
c.189G>T (p.Thr63=)
c.84-15G>T (n.84-15G>T)
c.592G>T (p.Gly198Cys)
n.247G>T
c.487-15G>T (n.487-15G>T)
c.414G>T (p.Thr138=)
11g.72106042G>ACA381717455LRRC51,LRTOMT,TOMTc.91G>A (p.Val31Ile)
c.438-2563G>A (n.438-2563G>A)
c.73-14G>A (n.73-14G>A)
c.190G>A (p.Val64Ile)
c.84-14G>A (n.84-14G>A)
c.593G>A (p.Gly198Asp)
n.248G>A
c.487-14G>A (n.487-14G>A)
c.415G>A (p.Val139Ile)
11g.72106042G>CCA381717458LRRC51,LRTOMT,TOMTc.91G>C (p.Val31Leu)
c.438-2563G>C (n.438-2563G>C)
c.73-14G>C (n.73-14G>C)
c.190G>C (p.Val64Leu)
c.84-14G>C (n.84-14G>C)
c.593G>C (p.Gly198Ala)
n.248G>C
c.487-14G>C (n.487-14G>C)
c.415G>C (p.Val139Leu)
11g.72106042G>TCA381717461LRRC51,LRTOMT,TOMTc.91G>T (p.Val31Phe)
c.438-2563G>T (n.438-2563G>T)
c.73-14G>T (n.73-14G>T)
c.190G>T (p.Val64Phe)
c.84-14G>T (n.84-14G>T)
c.593G>T (p.Gly198Val)
n.248G>T
c.487-14G>T (n.487-14G>T)
c.415G>T (p.Val139Phe)
11g.72106043T>ACA381717465LRRC51,LRTOMT,TOMTc.92T>A (p.Val31Asp)
c.438-2562T>A (n.438-2562T>A)
c.73-13T>A (n.73-13T>A)
c.191T>A (p.Val64Asp)
c.84-13T>A (n.84-13T>A)
c.594T>A (p.Gly198=)
n.249T>A
c.487-13T>A (n.487-13T>A)
c.416T>A (p.Val139Asp)
11g.72106043T>CCA381717467LRRC51,LRTOMT,TOMTc.92T>C (p.Val31Ala)
c.438-2562T>C (n.438-2562T>C)
c.73-13T>C (n.73-13T>C)
c.191T>C (p.Val64Ala)
c.84-13T>C (n.84-13T>C)
c.594T>C (p.Gly198=)
n.249T>C
c.487-13T>C (n.487-13T>C)
c.416T>C (p.Val139Ala)
11g.72106043T>GCA185304LRRC51,LRTOMT,TOMTc.92T>G (p.Val31Gly)
c.438-2562T>G (n.438-2562T>G)
c.73-13T>G (n.73-13T>G)
c.191T>G (p.Val64Gly)
c.84-13T>G (n.84-13T>G)
c.594T>G (p.Gly198=)
n.249T>G
c.487-13T>G (n.487-13T>G)
c.416T>G (p.Val139Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106043T=CA1981839882LRRC51,LRTOMT,TOMTc.92T= (p.Val31=)
c.438-2562T= (n.438-2562T=)
c.73-13T= (n.73-13T=)
c.191T= (p.Val64=)
c.84-13T= (n.84-13T=)
c.594T= (p.Gly198=)
n.249T=
c.487-13T= (n.487-13T=)
c.416T= (p.Val139=)
11g.72106044C>ACA475864824LRRC51,LRTOMT,TOMTc.93C>A (p.Val31=)
c.438-2561C>A (n.438-2561C>A)
c.73-12C>A (n.73-12C>A)
c.192C>A (p.Val64=)
c.84-12C>A (n.84-12C>A)
c.595C>A (p.Leu199Ile)
n.250C>A
c.487-12C>A (n.487-12C>A)
c.417C>A (p.Val139=)
 gnomAD v4
11g.72106044C>GCA475864825LRRC51,LRTOMT,TOMTc.93C>G (p.Val31=)
c.438-2561C>G (n.438-2561C>G)
c.73-12C>G (n.73-12C>G)
c.192C>G (p.Val64=)
c.84-12C>G (n.84-12C>G)
c.595C>G (p.Leu199Val)
n.250C>G
c.487-12C>G (n.487-12C>G)
c.417C>G (p.Val139=)
11g.72106044C>TCA475864826LRRC51,LRTOMT,TOMTc.93C>T (p.Val31=)
c.438-2561C>T (n.438-2561C>T)
c.73-12C>T (n.73-12C>T)
c.192C>T (p.Val64=)
c.84-12C>T (n.84-12C>T)
c.595C>T (p.Leu199Phe)
n.250C>T
c.487-12C>T (n.487-12C>T)
c.417C>T (p.Val139=)
11g.72106045T>ACA381717474LRRC51,LRTOMT,TOMTc.94T>A (p.Leu32Met)
c.438-2560T>A (n.438-2560T>A)
c.73-11T>A (n.73-11T>A)
c.193T>A (p.Leu65Met)
c.84-11T>A (n.84-11T>A)
c.596T>A (p.Leu199His)
n.251T>A
c.487-11T>A (n.487-11T>A)
c.418T>A (p.Leu140Met)
11g.72106045T>CCA475864827LRRC51,LRTOMT,TOMTc.94T>C (p.Leu32=)
c.438-2560T>C (n.438-2560T>C)
c.73-11T>C (n.73-11T>C)
c.193T>C (p.Leu65=)
c.84-11T>C (n.84-11T>C)
c.596T>C (p.Leu199Pro)
n.251T>C
c.487-11T>C (n.487-11T>C)
c.418T>C (p.Leu140=)
11g.72106045T>GCA381717478LRRC51,LRTOMT,TOMTc.94T>G (p.Leu32Val)
c.438-2560T>G (n.438-2560T>G)
c.73-11T>G (n.73-11T>G)
c.193T>G (p.Leu65Val)
c.84-11T>G (n.84-11T>G)
c.596T>G (p.Leu199Arg)
n.251T>G
c.487-11T>G (n.487-11T>G)
c.418T>G (p.Leu140Val)
11g.72106046T>ACA381717483LRRC51,LRTOMT,TOMTc.95T>A (p.Leu32Ter)
c.438-2559T>A (n.438-2559T>A)
c.73-10T>A (n.73-10T>A)
c.194T>A (p.Leu65Ter)
c.84-10T>A (n.84-10T>A)
c.597T>A (p.Leu199=)
n.252T>A
c.487-10T>A (n.487-10T>A)
c.419T>A (p.Leu140Ter)
11g.72106046T>CCA381717491LRRC51,LRTOMT,TOMTc.95T>C (p.Leu32Ser)
c.438-2559T>C (n.438-2559T>C)
c.73-10T>C (n.73-10T>C)
c.194T>C (p.Leu65Ser)
c.84-10T>C (n.84-10T>C)
c.597T>C (p.Leu199=)
n.252T>C
c.487-10T>C (n.487-10T>C)
c.419T>C (p.Leu140Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106046T>GCA381717488LRRC51,LRTOMT,TOMTc.95T>G (p.Leu32Trp)
c.438-2559T>G (n.438-2559T>G)
c.73-10T>G (n.73-10T>G)
c.194T>G (p.Leu65Trp)
c.84-10T>G (n.84-10T>G)
c.597T>G (p.Leu199=)
n.252T>G
c.487-10T>G (n.487-10T>G)
c.419T>G (p.Leu140Trp)
11g.72106046T=CA1981839883LRRC51,LRTOMT,TOMTc.95T= (p.Leu32=)
c.438-2559T= (n.438-2559T=)
c.73-10T= (n.73-10T=)
c.194T= (p.Leu65=)
c.84-10T= (n.84-10T=)
c.597T= (p.Leu199=)
n.252T=
c.487-10T= (n.487-10T=)
c.419T= (p.Leu140=)
11g.72106047G>ACA475864828LRRC51,LRTOMT,TOMTc.96G>A (p.Leu32=)
c.438-2558G>A (n.438-2558G>A)
c.73-9G>A (n.73-9G>A)
c.195G>A (p.Leu65=)
c.84-9G>A (n.84-9G>A)
c.598G>A (p.Ala200Thr)
n.253G>A
c.487-9G>A (n.487-9G>A)
c.420G>A (p.Leu140=)
11g.72106047G>CCA381717498LRRC51,LRTOMT,TOMTc.96G>C (p.Leu32Phe)
c.438-2558G>C (n.438-2558G>C)
c.73-9G>C (n.73-9G>C)
c.195G>C (p.Leu65Phe)
c.84-9G>C (n.84-9G>C)
c.598G>C (p.Ala200Pro)
n.253G>C
c.487-9G>C (n.487-9G>C)
c.420G>C (p.Leu140Phe)
11g.72106047G>TCA381717501LRRC51,LRTOMT,TOMTc.96G>T (p.Leu32Phe)
c.438-2558G>T (n.438-2558G>T)
c.73-9G>T (n.73-9G>T)
c.195G>T (p.Leu65Phe)
c.84-9G>T (n.84-9G>T)
c.598G>T (p.Ala200Ser)
n.253G>T
c.487-9G>T (n.487-9G>T)
c.420G>T (p.Leu140Phe)
11g.72106048_72106052dupCA600242550LRRC51,LRTOMT,TOMTc.97_101dup (p.Ser35CysfsTer?)
c.438-2557_438-2553dup (n.438-2557_438-2553dup)
c.73-8_73-4dup (n.73-8_73-4dup)
c.196_200dup (p.Ser68CysfsTer?)
c.84-8_84-4dup (n.84-8_84-4dup)
c.599_603dup (p.Lys202LeufsTer?)
n.254_258dup
c.487-8_487-4dup (n.487-8_487-4dup)
c.421_425dup (p.Ser143CysfsTer?)
 dbSNP gnomAD v2 gnomAD v4
11g.72106048C>ACA224374487LRRC51,LRTOMT,TOMTc.97C>A (p.Leu33Met)
c.438-2557C>A (n.438-2557C>A)
c.73-8C>A (n.73-8C>A)
c.196C>A (p.Leu66Met)
c.84-8C>A (n.84-8C>A)
c.599C>A (p.Ala200Asp)
n.254C>A
c.487-8C>A (n.487-8C>A)
c.421C>A (p.Leu141Met)
 dbSNP
11g.72106048C=CA1981839884LRRC51,LRTOMT,TOMTc.97C= (p.Leu33=)
c.438-2557C= (n.438-2557C=)
c.73-8C= (n.73-8C=)
c.196C= (p.Leu66=)
c.84-8C= (n.84-8C=)
c.599C= (p.Ala200=)
n.254C=
c.487-8C= (n.487-8C=)
c.421C= (p.Leu141=)
11g.72106048C>GCA10576899LRRC51,LRTOMT,TOMTc.97C>G (p.Leu33Val)
c.438-2557C>G (n.438-2557C>G)
c.73-8C>G (n.73-8C>G)
c.196C>G (p.Leu66Val)
c.84-8C>G (n.84-8C>G)
c.599C>G (p.Ala200Gly)
n.254C>G
c.487-8C>G (n.487-8C>G)
c.421C>G (p.Leu141Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.72106048C>TCA475864829LRRC51,LRTOMT,TOMTc.97C>T (p.Leu33=)
c.438-2557C>T (n.438-2557C>T)
c.73-8C>T (n.73-8C>T)
c.196C>T (p.Leu66=)
c.84-8C>T (n.84-8C>T)
c.599C>T (p.Ala200Val)
n.254C>T
c.487-8C>T (n.487-8C>T)
c.421C>T (p.Leu141=)
 dbSNP gnomAD v2
11g.72106049T>ACA381717515LRRC51,LRTOMT,TOMTc.98T>A (p.Leu33Gln)
c.438-2556T>A (n.438-2556T>A)
c.73-7T>A (n.73-7T>A)
c.197T>A (p.Leu66Gln)
c.84-7T>A (n.84-7T>A)
c.600T>A (p.Ala200=)
n.255T>A
c.487-7T>A (n.487-7T>A)
c.422T>A (p.Leu141Gln)
11g.72106049T>CCA6168576LRRC51,LRTOMT,TOMTc.98T>C (p.Leu33Pro)
c.438-2556T>C (n.438-2556T>C)
c.73-7T>C (n.73-7T>C)
c.197T>C (p.Leu66Pro)
c.84-7T>C (n.84-7T>C)
c.600T>C (p.Ala200=)
n.255T>C
c.487-7T>C (n.487-7T>C)
c.422T>C (p.Leu141Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.72106049T>GCA224374494LRRC51,LRTOMT,TOMTc.98T>G (p.Leu33Arg)
c.438-2556T>G (n.438-2556T>G)
c.73-7T>G (n.73-7T>G)
c.197T>G (p.Leu66Arg)
c.84-7T>G (n.84-7T>G)
c.600T>G (p.Ala200=)
n.255T>G
c.487-7T>G (n.487-7T>G)
c.422T>G (p.Leu141Arg)
 dbSNP
11g.72106049T=CA1981839885LRRC51,LRTOMT,TOMTc.98T= (p.Leu33=)
c.438-2556T= (n.438-2556T=)
c.73-7T= (n.73-7T=)
c.197T= (p.Leu66=)
c.84-7T= (n.84-7T=)
c.600T= (p.Ala200=)
n.255T=
c.487-7T= (n.487-7T=)
c.422T= (p.Leu141=)
11g.72106050G>ACA475864830LRRC51,LRTOMT,TOMTc.99G>A (p.Leu33=)
c.438-2555G>A (n.438-2555G>A)
c.73-6G>A (n.73-6G>A)
c.198G>A (p.Leu66=)
c.84-6G>A (n.84-6G>A)
c.601G>A (p.Ala201Thr)
n.256G>A
c.487-6G>A (n.487-6G>A)
c.423G>A (p.Leu141=)
 gnomAD v4
11g.72106050G>CCA475864831LRRC51,LRTOMT,TOMTc.99G>C (p.Leu33=)
c.438-2555G>C (n.438-2555G>C)
c.73-6G>C (n.73-6G>C)
c.198G>C (p.Leu66=)
c.84-6G>C (n.84-6G>C)
c.601G>C (p.Ala201Pro)
n.256G>C
c.487-6G>C (n.487-6G>C)
c.423G>C (p.Leu141=)
11g.72106050G>TCA475864832LRRC51,LRTOMT,TOMTc.99G>T (p.Leu33=)
c.438-2555G>T (n.438-2555G>T)
c.73-6G>T (n.73-6G>T)
c.198G>T (p.Leu66=)
c.84-6G>T (n.84-6G>T)
c.601G>T (p.Ala201Ser)
n.256G>T
c.487-6G>T (n.487-6G>T)
c.423G>T (p.Leu141=)
11g.72106051C>ACA475864833LRRC51,LRTOMT,TOMTc.100C>A (p.Arg34=)
c.438-2554C>A (n.438-2554C>A)
c.73-5C>A (n.73-5C>A)
c.199C>A (p.Arg67=)
c.84-5C>A (n.84-5C>A)
c.602C>A (p.Ala201Glu)
n.257C>A
c.487-5C>A (n.487-5C>A)
c.424C>A (p.Arg142=)
11g.72106051C=CA1981839886LRRC51,LRTOMT,TOMTc.100C= (p.Arg34=)
c.438-2554C= (n.438-2554C=)
c.73-5C= (n.73-5C=)
c.199C= (p.Arg67=)
c.84-5C= (n.84-5C=)
c.602C= (p.Ala201=)
n.257C=
c.487-5C= (n.487-5C=)
c.424C= (p.Arg142=)
11g.72106051C>GCA381717526LRRC51,LRTOMT,TOMTc.100C>G (p.Arg34Gly)
c.438-2554C>G (n.438-2554C>G)
c.73-5C>G (n.73-5C>G)
c.199C>G (p.Arg67Gly)
c.84-5C>G (n.84-5C>G)
c.602C>G (p.Ala201Gly)
n.257C>G
c.487-5C>G (n.487-5C>G)
c.424C>G (p.Arg142Gly)
11g.72106051C>TCA6168577LRRC51,LRTOMT,TOMTc.100C>T (p.Arg34Ter)
c.438-2554C>T (n.438-2554C>T)
c.73-5C>T (n.73-5C>T)
c.199C>T (p.Arg67Ter)
c.84-5C>T (n.84-5C>T)
c.602C>T (p.Ala201Val)
n.257C>T
c.487-5C>T (n.487-5C>T)
c.424C>T (p.Arg142Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.72106052G>ACA381717535LRRC51,LRTOMT,TOMTc.101G>A (p.Arg34Gln)
c.438-2553G>A (n.438-2553G>A)
c.73-4G>A (n.73-4G>A)
c.200G>A (p.Arg67Gln)
c.84-4G>A (n.84-4G>A)
c.603G>A (p.Ala201=)
n.258G>A
c.487-4G>A (n.487-4G>A)
c.425G>A (p.Arg142Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.72106052G>CCA381717549LRRC51,LRTOMT,TOMTc.101G>C (p.Arg34Pro)
c.438-2553G>C (n.438-2553G>C)
c.73-4G>C (n.73-4G>C)
c.200G>C (p.Arg67Pro)
c.84-4G>C (n.84-4G>C)
c.603G>C (p.Ala201=)
n.258G>C
c.487-4G>C (n.487-4G>C)
c.425G>C (p.Arg142Pro)
11g.72106052G=CA1981839887LRRC51,LRTOMT,TOMTc.101G= (p.Arg34=)
c.438-2553G= (n.438-2553G=)
c.73-4G= (n.73-4G=)
c.200G= (p.Arg67=)
c.84-4G= (n.84-4G=)
c.603G= (p.Ala201=)
n.258G=
c.487-4G= (n.487-4G=)
c.425G= (p.Arg142=)
11g.72106052G>TCA381717533LRRC51,LRTOMT,TOMTc.101G>T (p.Arg34Leu)
c.438-2553G>T (n.438-2553G>T)
c.73-4G>T (n.73-4G>T)
c.200G>T (p.Arg67Leu)
c.84-4G>T (n.84-4G>T)
c.603G>T (p.Ala201=)
n.258G>T
c.487-4G>T (n.487-4G>T)
c.425G>T (p.Arg142Leu)
11g.72106053A>CCA475864836LRRC51,LRTOMT,TOMTc.102A>C (p.Arg34=)
c.438-2552A>C (n.438-2552A>C)
c.73-3A>C (n.73-3A>C)
c.201A>C (p.Arg67=)
c.84-3A>C (n.84-3A>C)
c.604A>C (p.Lys202Gln)
n.259A>C
c.487-3A>C (n.487-3A>C)
c.426A>C (p.Arg142=)
11g.72106053A>GCA475864835LRRC51,LRTOMT,TOMTc.102A>G (p.Arg34=)
c.438-2552A>G (n.438-2552A>G)
c.73-3A>G (n.73-3A>G)
c.201A>G (p.Arg67=)
c.84-3A>G (n.84-3A>G)
c.604A>G (p.Lys202Glu)
n.259A>G
c.487-3A>G (n.487-3A>G)
c.426A>G (p.Arg142=)
 gnomAD v4
11g.72106053A>TCA475864834LRRC51,LRTOMT,TOMTc.102A>T (p.Arg34=)
c.438-2552A>T (n.438-2552A>T)
c.73-3A>T (n.73-3A>T)
c.201A>T (p.Arg67=)
c.84-3A>T (n.84-3A>T)
c.604A>T (p.Lys202Ter)
n.259A>T
c.487-3A>T (n.487-3A>T)
c.426A>T (p.Arg142=)
11g.72106054A>CCA381717553LRRC51,LRTOMT,TOMTc.103A>C (p.Ser35Arg)
c.438-2551A>C (n.438-2551A>C)
c.73-2A>C (n.73-2A>C)
c.202A>C (p.Ser68Arg)
c.84-2A>C (n.84-2A>C)
c.605A>C (p.Lys202Thr)
n.260A>C
c.487-2A>C (n.487-2A>C)
c.427A>C (p.Ser143Arg)
11g.72106054A>GCA381717557LRRC51,LRTOMT,TOMTc.103A>G (p.Ser35Gly)
c.438-2551A>G (n.438-2551A>G)
c.73-2A>G (n.73-2A>G)
c.202A>G (p.Ser68Gly)
c.84-2A>G (n.84-2A>G)
c.605A>G (p.Lys202Arg)
n.260A>G
c.487-2A>G (n.487-2A>G)
c.427A>G (p.Ser143Gly)
 gnomAD v4
11g.72106054A>TCA381717559LRRC51,LRTOMT,TOMTc.103A>T (p.Ser35Cys)
c.438-2551A>T (n.438-2551A>T)
c.73-2A>T (n.73-2A>T)
c.202A>T (p.Ser68Cys)
c.84-2A>T (n.84-2A>T)
c.605A>T (p.Lys202Met)
n.260A>T
c.487-2A>T (n.487-2A>T)
c.427A>T (p.Ser143Cys)
11g.72106055G>ACA381717564LRRC51,LRTOMT,TOMTc.104G>A (p.Ser35Asn)
c.438-2550G>A (n.438-2550G>A)
c.73-1G>A (n.73-1G>A)
c.203G>A (p.Ser68Asn)
c.84-1G>A (n.84-1G>A)
c.606G>A (p.Lys202=)
n.261G>A
c.487-1G>A (n.487-1G>A)
c.428G>A (p.Ser143Asn)
11g.72106055G>CCA224374499LRRC51,LRTOMT,TOMTc.104G>C (p.Ser35Thr)
c.438-2550G>C (n.438-2550G>C)
c.73-1G>C (n.73-1G>C)
c.203G>C (p.Ser68Thr)
c.84-1G>C (n.84-1G>C)
c.606G>C (p.Lys202Asn)
n.261G>C
c.487-1G>C (n.487-1G>C)
c.428G>C (p.Ser143Thr)
 dbSNP gnomAD v3 gnomAD v4
11g.72106055G=CA1981839888LRRC51,LRTOMT,TOMTc.104G= (p.Ser35=)
c.438-2550G= (n.438-2550G=)
c.73-1G= (n.73-1G=)
c.203G= (p.Ser68=)
c.84-1G= (n.84-1G=)
c.606G= (p.Lys202=)
n.261G=
c.487-1G= (n.487-1G=)
c.428G= (p.Ser143=)
11g.72106055G>TCA381717568LRRC51,LRTOMT,TOMTc.104G>T (p.Ser35Ile)
c.438-2550G>T (n.438-2550G>T)
c.73-1G>T (n.73-1G>T)
c.203G>T (p.Ser68Ile)
c.84-1G>T (n.84-1G>T)
c.606G>T (p.Lys202Asn)
n.261G>T
c.487-1G>T (n.487-1G>T)
c.428G>T (p.Ser143Ile)
11g.72106056C>ACA381717571LRRC51,LRTOMT,TOMTc.105C>A (p.Ser35Arg)
c.438-2549C>A (n.438-2549C>A)
c.73C>A (p.Pro25Thr)
c.204C>A (p.Ser68Arg)
c.84C>A (p.Ser28Arg)
c.607C>A (p.Pro203Thr)
n.262C>A
c.487C>A (p.Pro163Thr)
c.429C>A (p.Ser143Arg)
11g.72106056C=CA1981839889LRRC51,LRTOMT,TOMTc.105C= (p.Ser35=)
c.438-2549C= (n.438-2549C=)
c.73C= (p.Pro25=)
c.204C= (p.Ser68=)
c.84C= (p.Ser28=)
c.607C= (p.Pro203=)
n.262C=
c.487C= (p.Pro163=)
c.429C= (p.Ser143=)
11g.72106056C>GCA381717572LRRC51,LRTOMT,TOMTc.105C>G (p.Ser35Arg)
c.438-2549C>G (n.438-2549C>G)
c.73C>G (p.Pro25Ala)
c.204C>G (p.Ser68Arg)
c.84C>G (p.Ser28Arg)
c.607C>G (p.Pro203Ala)
n.262C>G
c.487C>G (p.Pro163Ala)
c.429C>G (p.Ser143Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.72106056C>TCA224374501LRRC51,LRTOMT,TOMTc.105C>T (p.Ser35=)
c.438-2549C>T (n.438-2549C>T)
c.73C>T (p.Pro25Ser)
c.204C>T (p.Ser68=)
c.84C>T (p.Ser28=)
c.607C>T (p.Pro203Ser)
n.262C>T
c.487C>T (p.Pro163Ser)
c.429C>T (p.Ser143=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106057C>ACA381717573LRRC51,LRTOMT,TOMTc.106C>A (p.Leu36Ile)
c.438-2548C>A (n.438-2548C>A)
c.74C>A (p.Pro25His)
c.205C>A (p.Leu69Ile)
c.85C>A (p.Leu29Ile)
c.608C>A (p.Pro203His)
n.263C>A
c.488C>A (p.Pro163His)
c.430C>A (p.Leu144Ile)
11g.72106057C=CA1981839890LRRC51,LRTOMT,TOMTc.106C= (p.Leu36=)
c.438-2548C= (n.438-2548C=)
c.74C= (p.Pro25=)
c.205C= (p.Leu69=)
c.85C= (p.Leu29=)
c.608C= (p.Pro203=)
n.263C=
c.488C= (p.Pro163=)
c.430C= (p.Leu144=)
11g.72106057C>GCA381717574LRRC51,LRTOMT,TOMTc.106C>G (p.Leu36Val)
c.438-2548C>G (n.438-2548C>G)
c.74C>G (p.Pro25Arg)
c.205C>G (p.Leu69Val)
c.85C>G (p.Leu29Val)
c.608C>G (p.Pro203Arg)
n.263C>G
c.488C>G (p.Pro163Arg)
c.430C>G (p.Leu144Val)
11g.72106057C>TCA381717575LRRC51,LRTOMT,TOMTc.106C>T (p.Leu36Phe)
c.438-2548C>T (n.438-2548C>T)
c.74C>T (p.Pro25Leu)
c.205C>T (p.Leu69Phe)
c.85C>T (p.Leu29Phe)
c.608C>T (p.Pro203Leu)
n.263C>T
c.488C>T (p.Pro163Leu)
c.430C>T (p.Leu144Phe)
 dbSNP gnomAD v3 gnomAD v4
11g.72106058T>ACA381717577LRRC51,LRTOMT,TOMTc.107T>A (p.Leu36His)
c.438-2547T>A (n.438-2547T>A)
c.75T>A (p.Pro25=)
c.206T>A (p.Leu69His)
c.86T>A (p.Leu29His)
c.609T>A (p.Pro203=)
n.264T>A
c.489T>A (p.Pro163=)
c.431T>A (p.Leu144His)
11g.72106058T>CCA381717578LRRC51,LRTOMT,TOMTc.107T>C (p.Leu36Pro)
c.438-2547T>C (n.438-2547T>C)
c.75T>C (p.Pro25=)
c.206T>C (p.Leu69Pro)
c.86T>C (p.Leu29Pro)
c.609T>C (p.Pro203=)
n.264T>C
c.489T>C (p.Pro163=)
c.431T>C (p.Leu144Pro)
11g.72106058T>GCA381717576LRRC51,LRTOMT,TOMTc.107T>G (p.Leu36Arg)
c.438-2547T>G (n.438-2547T>G)
c.75T>G (p.Pro25=)
c.206T>G (p.Leu69Arg)
c.86T>G (p.Leu29Arg)
c.609T>G (p.Pro203=)
n.264T>G
c.489T>G (p.Pro163=)
c.431T>G (p.Leu144Arg)
11g.72106059C>ACA475864837LRRC51,LRTOMT,TOMTc.108C>A (p.Leu36=)
c.438-2546C>A (n.438-2546C>A)
c.76C>A (p.Pro26Thr)
c.207C>A (p.Leu69=)
c.87C>A (p.Leu29=)
c.610C>A (p.Pro204Thr)
n.265C>A
c.490C>A (p.Pro164Thr)
c.432C>A (p.Leu144=)
11g.72106059C=CA1981839891LRRC51,LRTOMT,TOMTc.108C= (p.Leu36=)
c.438-2546C= (n.438-2546C=)
c.76C= (p.Pro26=)
c.207C= (p.Leu69=)
c.87C= (p.Leu29=)
c.610C= (p.Pro204=)
n.265C=
c.490C= (p.Pro164=)
c.432C= (p.Leu144=)
11g.72106059C>GCA475864838LRRC51,LRTOMT,TOMTc.108C>G (p.Leu36=)
c.438-2546C>G (n.438-2546C>G)
c.76C>G (p.Pro26Ala)
c.207C>G (p.Leu69=)
c.87C>G (p.Leu29=)
c.610C>G (p.Pro204Ala)
n.265C>G
c.490C>G (p.Pro164Ala)
c.432C>G (p.Leu144=)
 dbSNP
11g.72106059C>TCA224374506LRRC51,LRTOMT,TOMTc.108C>T (p.Leu36=)
c.438-2546C>T (n.438-2546C>T)
c.76C>T (p.Pro26Ser)
c.207C>T (p.Leu69=)
c.87C>T (p.Leu29=)
c.610C>T (p.Pro204Ser)
n.265C>T
c.490C>T (p.Pro164Ser)
c.432C>T (p.Leu144=)
 dbSNP COSMIC
11g.72106060C>ACA475864839LRRC51,LRTOMT,TOMTc.109C>A (p.Arg37=)
c.438-2545C>A (n.438-2545C>A)
c.77C>A (p.Pro26Gln)
c.208C>A (p.Arg70=)
c.88C>A (p.Arg30=)
c.611C>A (p.Pro204Gln)
n.266C>A
c.491C>A (p.Pro164Gln)
c.433C>A (p.Arg145=)
11g.72106060C=CA1981839892LRRC51,LRTOMT,TOMTc.109C= (p.Arg37=)
c.438-2545C= (n.438-2545C=)
c.77C= (p.Pro26=)
c.208C= (p.Arg70=)
c.88C= (p.Arg30=)
c.611C= (p.Pro204=)
n.266C=
c.491C= (p.Pro164=)
c.433C= (p.Arg145=)
11g.72106060C>GCA381717580LRRC51,LRTOMT,TOMTc.109C>G (p.Arg37Gly)
c.438-2545C>G (n.438-2545C>G)
c.77C>G (p.Pro26Arg)
c.208C>G (p.Arg70Gly)
c.88C>G (p.Arg30Gly)
c.611C>G (p.Pro204Arg)
n.266C>G
c.491C>G (p.Pro164Arg)
c.433C>G (p.Arg145Gly)
11g.72106060C>TCA381717582LRRC51,LRTOMT,TOMTc.109C>T (p.Arg37Ter)
c.438-2545C>T (n.438-2545C>T)
c.77C>T (p.Pro26Leu)
c.208C>T (p.Arg70Ter)
c.88C>T (p.Arg30Ter)
c.611C>T (p.Pro204Leu)
n.266C>T
c.491C>T (p.Pro164Leu)
c.433C>T (p.Arg145Ter)
 dbSNP gnomAD v2 gnomAD v4
11g.72106061G>ACA10640061LRRC51,LRTOMT,TOMTc.110G>A (p.Arg37Gln)
c.438-2544G>A (n.438-2544G>A)
c.78G>A (p.Pro26=)
c.209G>A (p.Arg70Gln)
c.89G>A (p.Arg30Gln)
c.612G>A (p.Pro204=)
n.267G>A
c.492G>A (p.Pro164=)
c.434G>A (p.Arg145Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106061G>CCA381717585LRRC51,LRTOMT,TOMTc.110G>C (p.Arg37Pro)
c.438-2544G>C (n.438-2544G>C)
c.78G>C (p.Pro26=)
c.209G>C (p.Arg70Pro)
c.89G>C (p.Arg30Pro)
c.612G>C (p.Pro204=)
n.267G>C
c.492G>C (p.Pro164=)
c.434G>C (p.Arg145Pro)
 dbSNP gnomAD v2 gnomAD v4
11g.72106061G=CA1981839893LRRC51,LRTOMT,TOMTc.110G= (p.Arg37=)
c.438-2544G= (n.438-2544G=)
c.78G= (p.Pro26=)
c.209G= (p.Arg70=)
c.89G= (p.Arg30=)
c.612G= (p.Pro204=)
n.267G=
c.492G= (p.Pro164=)
c.434G= (p.Arg145=)
11g.72106061G>TCA381717586LRRC51,LRTOMT,TOMTc.110G>T (p.Arg37Leu)
c.438-2544G>T (n.438-2544G>T)
c.78G>T (p.Pro26=)
c.209G>T (p.Arg70Leu)
c.89G>T (p.Arg30Leu)
c.612G>T (p.Pro204=)
n.267G>T
c.492G>T (p.Pro164=)
c.434G>T (p.Arg145Leu)
 gnomAD v4
11g.72106062A>CCA475864840LRRC51,LRTOMT,TOMTc.111A>C (p.Arg37=)
c.438-2543A>C (n.438-2543A>C)
c.79A>C (p.Arg27=)
c.210A>C (p.Arg70=)
c.90A>C (p.Arg30=)
c.613A>C (p.Arg205=)
n.268A>C
c.493A>C (p.Arg165=)
c.435A>C (p.Arg145=)
11g.72106062A>GCA475864841LRRC51,LRTOMT,TOMTc.111A>G (p.Arg37=)
c.438-2543A>G (n.438-2543A>G)
c.79A>G (p.Arg27Gly)
c.210A>G (p.Arg70=)
c.90A>G (p.Arg30=)
c.613A>G (p.Arg205Gly)
n.268A>G
c.493A>G (p.Arg165Gly)
c.435A>G (p.Arg145=)
11g.72106062A>TCA475864842LRRC51,LRTOMT,TOMTc.111A>T (p.Arg37=)
c.438-2543A>T (n.438-2543A>T)
c.79A>T (p.Arg27Ter)
c.210A>T (p.Arg70=)
c.90A>T (p.Arg30=)
c.613A>T (p.Arg205Ter)
n.268A>T
c.493A>T (p.Arg165Ter)
c.435A>T (p.Arg145=)
11g.72106063G>ACA224374513LRRC51,LRTOMT,TOMTc.112G>A (p.Asp38Asn)
c.438-2542G>A (n.438-2542G>A)
c.80G>A (p.Arg27Lys)
c.211G>A (p.Asp71Asn)
c.91G>A (p.Asp31Asn)
c.614G>A (p.Arg205Lys)
n.269G>A
c.494G>A (p.Arg165Lys)
c.436G>A (p.Asp146Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106063G>CCA381717588LRRC51,LRTOMT,TOMTc.112G>C (p.Asp38His)
c.438-2542G>C (n.438-2542G>C)
c.80G>C (p.Arg27Thr)
c.211G>C (p.Asp71His)
c.91G>C (p.Asp31His)
c.614G>C (p.Arg205Thr)
n.269G>C
c.494G>C (p.Arg165Thr)
c.436G>C (p.Asp146His)
11g.72106063G=CA1981839894LRRC51,LRTOMT,TOMTc.112G= (p.Asp38=)
c.438-2542G= (n.438-2542G=)
c.80G= (p.Arg27=)
c.211G= (p.Asp71=)
c.91G= (p.Asp31=)
c.614G= (p.Arg205=)
n.269G=
c.494G= (p.Arg165=)
c.436G= (p.Asp146=)
11g.72106063G>TCA381717587LRRC51,LRTOMT,TOMTc.112G>T (p.Asp38Tyr)
c.438-2542G>T (n.438-2542G>T)
c.80G>T (p.Arg27Ile)
c.211G>T (p.Asp71Tyr)
c.91G>T (p.Asp31Tyr)
c.614G>T (p.Arg205Ile)
n.269G>T
c.494G>T (p.Arg165Ile)
c.436G>T (p.Asp146Tyr)
 gnomAD v4
11g.72106064A=CA1981839895LRRC51,LRTOMT,TOMTc.113A= (p.Asp38=)
c.438-2541A= (n.438-2541A=)
c.81A= (p.Arg27=)
c.212A= (p.Asp71=)
c.92A= (p.Asp31=)
c.615A= (p.Arg205=)
n.270A=
c.495A= (p.Arg165=)
c.437A= (p.Asp146=)
11g.72106064A>CCA381717589LRRC51,LRTOMT,TOMTc.113A>C (p.Asp38Ala)
c.438-2541A>C (n.438-2541A>C)
c.81A>C (p.Arg27Ser)
c.212A>C (p.Asp71Ala)
c.92A>C (p.Asp31Ala)
c.615A>C (p.Arg205Ser)
n.270A>C
c.495A>C (p.Arg165Ser)
c.437A>C (p.Asp146Ala)
11g.72106064A>GCA381717590LRRC51,LRTOMT,TOMTc.113A>G (p.Asp38Gly)
c.438-2541A>G (n.438-2541A>G)
c.81A>G (p.Arg27=)
c.212A>G (p.Asp71Gly)
c.92A>G (p.Asp31Gly)
c.615A>G (p.Arg205=)
n.270A>G
c.495A>G (p.Arg165=)
c.437A>G (p.Asp146Gly)
 dbSNP gnomAD v2 gnomAD v4
11g.72106064A>TCA381717591LRRC51,LRTOMT,TOMTc.113A>T (p.Asp38Val)
c.438-2541A>T (n.438-2541A>T)
c.81A>T (p.Arg27Ser)
c.212A>T (p.Asp71Val)
c.92A>T (p.Asp31Val)
c.615A>T (p.Arg205Ser)
n.270A>T
c.495A>T (p.Arg165Ser)
c.437A>T (p.Asp146Val)
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)
 ClinVar 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

Number of alleles fetched