Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.72106085T>A | CA381717683 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106085T>C | CA381717685 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106085T>G | CA381717692 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106086C>A | CA6168581 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106086C= | CA1981839904 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106086C>G | CA381717696 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106086C>T | CA475864862 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106087G>A | CA6168582 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106087G>C | CA381717700 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106087G= | CA1981839905 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106087G>T | CA381717702 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106088A>C | CA381717705 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106088A>G | CA381717706 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106088A>T | CA381717709 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106089G>A | CA475864863 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106089G>C | CA381717712 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106089G>T | CA381717714 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106090G>A | CA381717717 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106090G>C | CA381717719 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106090G>T | CA381717721 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106091A>C | CA381717724 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106091A>G | CA381717726 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106091A>T | CA381717728 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106092G>A | CA475864864 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106092G>C | CA381717731 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106092G>T | CA381717733 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106093C>A | CA475864865 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106093C= | CA1981839906 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106093C>G | CA224374534 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106093C>T | CA381717737 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106093_72106094delinsCG | CA1981839907 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106094G>A | CA251495 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106094G>C | CA381717740 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106094G= | CA1981839908 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106094G>T | CA381717743 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106096del | CA600242551 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106095G>A | CA475864868 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106095G>C | CA475864867 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106095G>T | CA475864866 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106096G>A | CA381717749 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106096G>C | CA381717752 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106096G>T | CA381717747 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106097C>A | CA381717754 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106097C= | CA1981839909 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106097C>G | CA381717756 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106097C>T | CA224374540 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106098C>A | CA475864869 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106098C>G | CA475864870 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106098C>T | CA475864871 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106099T>A | CA381717760 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106099T>C | CA381717762 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106099T>G | CA381717763 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106100T>A | CA381717769 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106100T>C | CA381717765 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106100T>G | CA381717767 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106101C>A | CA381717771 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106101C= | CA1981839910 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106101C>G | CA6168583 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106101C>T | CA475864872 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106102A>C | CA381717775 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106102A>G | CA381717777 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106102A>T | CA381717779 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106103G>A | CA381717785 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106103G>C | CA381717781 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106103G>T | CA381717783 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106104C>A | CA381717788 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106104C= | CA1981839911 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106104C>G | CA381717790 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106104C>T | CA475864873 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106105T>A | CA381717792 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106105T>C | CA381717793 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106105T>G | CA381717794 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106106A>C | CA381717796 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106106A>G | CA381717798 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106106A>T | CA381717800 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106107C>A | CA381717802 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106107C= | CA1981839912 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106107C>G | CA381717810 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106107C>T | CA475864874 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106108G>A | CA6168584 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106108G>C | CA381717819 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106108G= | CA1981839913 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106108G>T | CA381717821 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106109T>A | CA381717828 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106109T>C | CA381717823 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106109T>G | CA381717826 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106110G>A | CA475864875 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106110G>C | CA475864876 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106110G>T | CA475864877 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106111C>A | CA381717830 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106111C>G | CA381717831 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106111C>T | CA381717833 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106112T>A | CA381717836 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106112T>C | CA381717837 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106112T>G | CA381717839 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106113C>A | CA475864878 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106113C= | CA1981839914 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106113C>G | CA475864879 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106113C>T | CA475864880 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106114A>C | CA381717841 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106114A>G | CA381717843 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106114A>T | CA381717845 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106115C>A | CA381717848 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106115C>G | CA381717849 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106115C>T | CA381717851 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106116C>A | CA475864881 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106116C>G | CA475864882 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106116C>T | CA475864883 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106117C>A | CA381717860 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106117C>G | CA381717856 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106117C>T | CA381717854 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106118A= | CA1981839915 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106118A>C | CA381717862 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106118A>G | CA224374547 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106118A>T | CA381717865 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106119T>A | CA381717868 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106119T>C | CA224374549 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106119T>G | CA381717869 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106119T= | CA1981839916 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106120G>A | CA381717872 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106120G>C | CA381717874 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106120G= | CA1981839917 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106120G>T | CA381717876 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106121C>A | CA381717879 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106121C>G | CA381717881 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106121C>T | CA381717883 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106122C>A | CA475864885 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106122C= | CA1981839918 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106122C>G | CA475864886 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106122C>T | CA475864884 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106123C>A | CA381717885 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106123C= | CA1981839919 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106123C>G | CA381717887 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106123C>T | CA475864887 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106124T>A | CA381717891 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106124T>C | CA381717893 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106124T>G | CA381717890 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106125G>A | CA475864890 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106125G>C | CA475864889 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106125G>T | CA475864888 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106126C>A | CA381717895 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106126C= | CA1981839920 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106126C>G | CA381717898 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106126C>T | CA224374554 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106127C>A | CA381717902 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106127C>G | CA381717903 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106127C>T | CA381717905 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106128C>A | CA475864891 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106128C= | CA1981839921 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106128C>G | CA475864892 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106128C>T | CA10631493 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106129G>A | CA224374563 | LRRC51,LRTOMT,TOMT | c.178G>A (p.Gly60Ser) c.438-2476G>A (n.438-2476G>A) c.146G>A (p.Arg49Gln) c.277G>A (p.Gly93Ser) c.157G>A (p.Gly53Ser) c.680G>A (p.Arg227Gln) n.335G>A c.560G>A (p.Arg187Gln) c.502G>A (p.Gly168Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72106129G>C | CA381717908 | LRRC51,LRTOMT,TOMT | c.178G>C (p.Gly60Arg) c.438-2476G>C (n.438-2476G>C) c.146G>C (p.Arg49Pro) c.277G>C (p.Gly93Arg) c.157G>C (p.Gly53Arg) c.680G>C (p.Arg227Pro) n.335G>C c.560G>C (p.Arg187Pro) c.502G>C (p.Gly168Arg) | |
11 | g.72106129G= | CA1981839922 | LRRC51,LRTOMT,TOMT | c.178G= (p.Gly60=) c.438-2476G= (n.438-2476G=) c.146G= (p.Arg49=) c.277G= (p.Gly93=) c.157G= (p.Gly53=) c.680G= (p.Arg227=) n.335G= c.560G= (p.Arg187=) c.502G= (p.Gly168=) | |
11 | g.72106129G>T | CA381717910 | LRRC51,LRTOMT,TOMT | c.178G>T (p.Gly60Cys) c.438-2476G>T (n.438-2476G>T) c.146G>T (p.Arg49Leu) c.277G>T (p.Gly93Cys) c.157G>T (p.Gly53Cys) c.680G>T (p.Arg227Leu) n.335G>T c.560G>T (p.Arg187Leu) c.502G>T (p.Gly168Cys) | gnomAD v4 |
11 | g.72106130G>A | CA381717912 | LRRC51,LRTOMT,TOMT | c.179G>A (p.Gly60Asp) c.438-2475G>A (n.438-2475G>A) c.147G>A (p.Arg49=) c.278G>A (p.Gly93Asp) c.158G>A (p.Gly53Asp) c.681G>A (p.Arg227=) n.336G>A c.561G>A (p.Arg187=) c.503G>A (p.Gly168Asp) | dbSNP |
11 | g.72106130G>C | CA381717914 | LRRC51,LRTOMT,TOMT | c.179G>C (p.Gly60Ala) c.438-2475G>C (n.438-2475G>C) c.147G>C (p.Arg49=) c.278G>C (p.Gly93Ala) c.158G>C (p.Gly53Ala) c.681G>C (p.Arg227=) n.336G>C c.561G>C (p.Arg187=) c.503G>C (p.Gly168Ala) | |
11 | g.72106130G= | CA1981839923 | LRRC51,LRTOMT,TOMT | c.179G= (p.Gly60=) c.438-2475G= (n.438-2475G=) c.147G= (p.Arg49=) c.278G= (p.Gly93=) c.158G= (p.Gly53=) c.681G= (p.Arg227=) n.336G= c.561G= (p.Arg187=) c.503G= (p.Gly168=) | |
11 | g.72106130G>T | CA381717916 | LRRC51,LRTOMT,TOMT | c.179G>T (p.Gly60Val) c.438-2475G>T (n.438-2475G>T) c.147G>T (p.Arg49=) c.278G>T (p.Gly93Val) c.158G>T (p.Gly53Val) c.681G>T (p.Arg227=) n.336G>T c.561G>T (p.Arg187=) c.503G>T (p.Gly168Val) | gnomAD v4 |
11 | g.72106131T>A | CA475864893 | LRRC51,LRTOMT,TOMT | c.180T>A (p.Gly60=) c.438-2474T>A (n.438-2474T>A) c.148T>A (p.Ter50Arg) c.279T>A (p.Gly93=) c.159T>A (p.Gly53=) c.682T>A (p.Ter228Arg) n.337T>A c.562T>A (p.Ter188Arg) c.504T>A (p.Gly168=) | gnomAD v4 |
11 | g.72106131T>C | CA475864894 | LRRC51,LRTOMT,TOMT | c.180T>C (p.Gly60=) c.438-2474T>C (n.438-2474T>C) c.148T>C (p.Ter50Arg) c.279T>C (p.Gly93=) c.159T>C (p.Gly53=) c.682T>C (p.Ter228Arg) n.337T>C c.562T>C (p.Ter188Arg) c.504T>C (p.Gly168=) | |
11 | g.72106131T>G | CA475864895 | LRRC51,LRTOMT,TOMT | c.180T>G (p.Gly60=) c.438-2474T>G (n.438-2474T>G) c.148T>G (p.Ter50Gly) c.279T>G (p.Gly93=) c.159T>G (p.Gly53=) c.682T>G (p.Ter228Gly) n.337T>G c.562T>G (p.Ter188Gly) c.504T>G (p.Gly168=) | |
11 | g.72106132G>A | CA381717926 | LRRC51,LRTOMT,TOMT | c.181G>A (p.Asp61Asn) c.438-2473G>A (n.438-2473G>A) c.149G>A (p.Ter50=) c.280G>A (p.Asp94Asn) c.160G>A (p.Asp54Asn) c.683G>A (p.Ter228=) n.338G>A c.563G>A (p.Ter188=) c.505G>A (p.Asp169Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72106132G>C | CA381717923 | LRRC51,LRTOMT,TOMT | c.181G>C (p.Asp61His) c.438-2473G>C (n.438-2473G>C) c.149G>C (p.Ter50Ser) c.280G>C (p.Asp94His) c.160G>C (p.Asp54His) c.683G>C (p.Ter228Ser) n.338G>C c.563G>C (p.Ter188Ser) c.505G>C (p.Asp169His) | |
11 | g.72106132G= | CA1981839924 | LRRC51,LRTOMT,TOMT | c.181G= (p.Asp61=) c.438-2473G= (n.438-2473G=) c.149G= (p.Ter50=) c.280G= (p.Asp94=) c.160G= (p.Asp54=) c.683G= (p.Ter228=) n.338G= c.563G= (p.Ter188=) c.505G= (p.Asp169=) | |
11 | g.72106132G>T | CA381717920 | LRRC51,LRTOMT,TOMT | c.181G>T (p.Asp61Tyr) c.438-2473G>T (n.438-2473G>T) c.149G>T (p.Ter50Leu) c.280G>T (p.Asp94Tyr) c.160G>T (p.Asp54Tyr) c.683G>T (p.Ter228Leu) n.338G>T c.563G>T (p.Ter188Leu) c.505G>T (p.Asp169Tyr) | gnomAD v4 |
11 | g.72106133A>C | CA381717930 | LRRC51,LRTOMT,TOMT | c.182A>C (p.Asp61Ala) c.438-2472A>C (n.438-2472A>C) c.150A>C (p.Ter50Cys) c.281A>C (p.Asp94Ala) c.161A>C (p.Asp54Ala) c.684A>C (p.Ter228Cys) n.339A>C c.564A>C (p.Ter188Cys) c.506A>C (p.Asp169Ala) | |
11 | g.72106133A>G | CA381717932 | LRRC51,LRTOMT,TOMT | c.182A>G (p.Asp61Gly) c.438-2472A>G (n.438-2472A>G) c.150A>G (p.Ter50Trp) c.281A>G (p.Asp94Gly) c.161A>G (p.Asp54Gly) c.684A>G (p.Ter228Trp) n.339A>G c.564A>G (p.Ter188Trp) c.506A>G (p.Asp169Gly) | |
11 | g.72106133A>T | CA381717936 | LRRC51,LRTOMT,TOMT | c.182A>T (p.Asp61Val) c.438-2472A>T (n.438-2472A>T) c.150A>T (p.Ter50Cys) c.281A>T (p.Asp94Val) c.161A>T (p.Asp54Val) c.684A>T (p.Ter228Cys) n.339A>T c.564A>T (p.Ter188Cys) c.506A>T (p.Asp169Val) | |
11 | g.72106134_72106144del | CA2614917621 | LRRC51,LRTOMT,TOMT | c.183_193del (p.Gly63HisfsTer?) c.438-2471_438-2461del (n.438-2471_438-2461del) c.*1_*11del (n.*1_*11del) c.282_292del (p.Gly96HisfsTer?) c.162_172del (p.Gly56HisfsTer?) n.340_350del c.507_517del (p.Gly171HisfsTer?) | gnomAD v4 |
11 | g.72106134C>A | CA381717942 | LRRC51,LRTOMT,TOMT | c.183C>A (p.Asp61Glu) c.438-2471C>A (n.438-2471C>A) c.*1C>A (n.*1C>A) c.282C>A (p.Asp94Glu) c.162C>A (p.Asp54Glu) n.340C>A c.507C>A (p.Asp169Glu) | |
11 | g.72106134C= | CA1981839925 | LRRC51,LRTOMT,TOMT | c.183C= (p.Asp61=) c.438-2471C= (n.438-2471C=) c.*1C= (n.*1C=) c.282C= (p.Asp94=) c.162C= (p.Asp54=) n.340C= c.507C= (p.Asp169=) | |
11 | g.72106134C>G | CA381717944 | LRRC51,LRTOMT,TOMT | c.183C>G (p.Asp61Glu) c.438-2471C>G (n.438-2471C>G) c.*1C>G (n.*1C>G) c.282C>G (p.Asp94Glu) c.162C>G (p.Asp54Glu) n.340C>G c.507C>G (p.Asp169Glu) | |
11 | g.72106134C>T | CA475864896 | LRRC51,LRTOMT,TOMT | c.183C>T (p.Asp61=) c.438-2471C>T (n.438-2471C>T) c.*1C>T (n.*1C>T) c.282C>T (p.Asp94=) c.162C>T (p.Asp54=) n.340C>T c.507C>T (p.Asp169=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72106135C>A | CA381717949 | LRRC51,LRTOMT,TOMT | c.184C>A (p.Pro62Thr) c.438-2470C>A (n.438-2470C>A) c.*2C>A (n.*2C>A) c.283C>A (p.Pro95Thr) c.163C>A (p.Pro55Thr) n.341C>A c.508C>A (p.Pro170Thr) | |
11 | g.72106135C>G | CA381717950 | LRRC51,LRTOMT,TOMT | c.184C>G (p.Pro62Ala) c.438-2470C>G (n.438-2470C>G) c.*2C>G (n.*2C>G) c.283C>G (p.Pro95Ala) c.163C>G (p.Pro55Ala) n.341C>G c.508C>G (p.Pro170Ala) | |
11 | g.72106135C>T | CA381717952 | LRRC51,LRTOMT,TOMT | c.184C>T (p.Pro62Ser) c.438-2470C>T (n.438-2470C>T) c.*2C>T (n.*2C>T) c.283C>T (p.Pro95Ser) c.163C>T (p.Pro55Ser) n.341C>T c.508C>T (p.Pro170Ser) | |
11 | g.72106136C>A | CA381717956 | LRRC51,LRTOMT,TOMT | c.185C>A (p.Pro62His) c.438-2469C>A (n.438-2469C>A) c.*3C>A (n.*3C>A) c.284C>A (p.Pro95His) c.164C>A (p.Pro55His) n.342C>A c.509C>A (p.Pro170His) | gnomAD v4 |
11 | g.72106136C>G | CA381717959 | LRRC51,LRTOMT,TOMT | c.185C>G (p.Pro62Arg) c.438-2469C>G (n.438-2469C>G) c.*3C>G (n.*3C>G) c.284C>G (p.Pro95Arg) c.164C>G (p.Pro55Arg) n.342C>G c.509C>G (p.Pro170Arg) | |
11 | g.72106136C>T | CA381717962 | LRRC51,LRTOMT,TOMT | c.185C>T (p.Pro62Leu) c.438-2469C>T (n.438-2469C>T) c.*3C>T (n.*3C>T) c.284C>T (p.Pro95Leu) c.164C>T (p.Pro55Leu) n.342C>T c.509C>T (p.Pro170Leu) | |
11 | g.72106137del | CA2614917624 | LRRC51,LRTOMT,TOMT | c.186del (p.Gly63ValfsTer17) c.438-2468del (n.438-2468del) c.*4del (n.*4del) c.285del (p.Gly96ValfsTer17) c.165del (p.Gly56ValfsTer17) n.343del c.510del (p.Gly171ValfsTer17) | gnomAD v4 |
11 | g.72106137T>A | CA475864897 | LRRC51,LRTOMT,TOMT | c.186T>A (p.Pro62=) c.438-2468T>A (n.438-2468T>A) c.*4T>A (n.*4T>A) c.285T>A (p.Pro95=) c.165T>A (p.Pro55=) n.343T>A c.510T>A (p.Pro170=) | |
11 | g.72106137T>C | CA475864898 | LRRC51,LRTOMT,TOMT | c.186T>C (p.Pro62=) c.438-2468T>C (n.438-2468T>C) c.*4T>C (n.*4T>C) c.285T>C (p.Pro95=) c.165T>C (p.Pro55=) n.343T>C c.510T>C (p.Pro170=) | |
11 | g.72106137T>G | CA475864899 | LRRC51,LRTOMT,TOMT | c.186T>G (p.Pro62=) c.438-2468T>G (n.438-2468T>G) c.*4T>G (n.*4T>G) c.285T>G (p.Pro95=) c.165T>G (p.Pro55=) n.343T>G c.510T>G (p.Pro170=) | |
11 | g.72106138G>A | CA381717970 | LRRC51,LRTOMT,TOMT | c.187G>A (p.Gly63Ser) c.438-2467G>A (n.438-2467G>A) c.*5G>A (n.*5G>A) c.286G>A (p.Gly96Ser) c.166G>A (p.Gly56Ser) n.344G>A c.511G>A (p.Gly171Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72106138G>C | CA381717973 | LRRC51,LRTOMT,TOMT | c.187G>C (p.Gly63Arg) c.438-2467G>C (n.438-2467G>C) c.*5G>C (n.*5G>C) c.286G>C (p.Gly96Arg) c.166G>C (p.Gly56Arg) n.344G>C c.511G>C (p.Gly171Arg) | |
11 | g.72106138G= | CA1981839926 | LRRC51,LRTOMT,TOMT | c.187G= (p.Gly63=) c.438-2467G= (n.438-2467G=) c.*5G= (n.*5G=) c.286G= (p.Gly96=) c.166G= (p.Gly56=) n.344G= c.511G= (p.Gly171=) | |
11 | g.72106138G>T | CA381717967 | LRRC51,LRTOMT,TOMT | c.187G>T (p.Gly63Cys) c.438-2467G>T (n.438-2467G>T) c.*5G>T (n.*5G>T) c.286G>T (p.Gly96Cys) c.166G>T (p.Gly56Cys) n.344G>T c.511G>T (p.Gly171Cys) | gnomAD v4 |
11 | g.72106139G>A | CA6168585 | LRRC51,LRTOMT,TOMT | c.188G>A (p.Gly63Asp) c.438-2466G>A (n.438-2466G>A) c.*6G>A (n.*6G>A) c.287G>A (p.Gly96Asp) c.167G>A (p.Gly56Asp) n.345G>A c.512G>A (p.Gly171Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72106139G>C | CA381717982 | LRRC51,LRTOMT,TOMT | c.188G>C (p.Gly63Ala) c.438-2466G>C (n.438-2466G>C) c.*6G>C (n.*6G>C) c.287G>C (p.Gly96Ala) c.167G>C (p.Gly56Ala) n.345G>C c.512G>C (p.Gly171Ala) | |
11 | g.72106139G= | CA1981839927 | LRRC51,LRTOMT,TOMT | c.188G= (p.Gly63=) c.438-2466G= (n.438-2466G=) c.*6G= (n.*6G=) c.287G= (p.Gly96=) c.167G= (p.Gly56=) n.345G= c.512G= (p.Gly171=) | |
11 | g.72106139G>T | CA381717985 | LRRC51,LRTOMT,TOMT | c.188G>T (p.Gly63Val) c.438-2466G>T (n.438-2466G>T) c.*6G>T (n.*6G>T) c.287G>T (p.Gly96Val) c.167G>T (p.Gly56Val) n.345G>T c.512G>T (p.Gly171Val) | gnomAD v4 |
11 | g.72106140T>A | CA475864900 | LRRC51,LRTOMT,TOMT | c.189T>A (p.Gly63=) c.438-2465T>A (n.438-2465T>A) c.*7T>A (n.*7T>A) c.288T>A (p.Gly96=) c.168T>A (p.Gly56=) n.346T>A c.513T>A (p.Gly171=) | |
11 | g.72106140T>C | CA475864901 | LRRC51,LRTOMT,TOMT | c.189T>C (p.Gly63=) c.438-2465T>C (n.438-2465T>C) c.*7T>C (n.*7T>C) c.288T>C (p.Gly96=) c.168T>C (p.Gly56=) n.346T>C c.513T>C (p.Gly171=) | dbSNP |
11 | g.72106140T>G | CA475864902 | LRRC51,LRTOMT,TOMT | c.189T>G (p.Gly63=) c.438-2465T>G (n.438-2465T>G) c.*7T>G (n.*7T>G) c.288T>G (p.Gly96=) c.168T>G (p.Gly56=) n.346T>G c.513T>G (p.Gly171=) | |
11 | g.72106140T= | CA1981839928 | LRRC51,LRTOMT,TOMT | c.189T= (p.Gly63=) c.438-2465T= (n.438-2465T=) c.*7T= (n.*7T=) c.288T= (p.Gly96=) c.168T= (p.Gly56=) n.346T= c.513T= (p.Gly171=) | |
11 | g.72106141C>A | CA381717989 | LRRC51,LRTOMT,TOMT | c.190C>A (p.His64Asn) c.438-2464C>A (n.438-2464C>A) c.*8C>A (n.*8C>A) c.289C>A (p.His97Asn) c.169C>A (p.His57Asn) n.347C>A c.514C>A (p.His172Asn) | gnomAD v4 |
11 | g.72106141C>G | CA381717992 | LRRC51,LRTOMT,TOMT | c.190C>G (p.His64Asp) c.438-2464C>G (n.438-2464C>G) c.*8C>G (n.*8C>G) c.289C>G (p.His97Asp) c.169C>G (p.His57Asp) n.347C>G c.514C>G (p.His172Asp) | |
11 | g.72106141C>T | CA381717995 | LRRC51,LRTOMT,TOMT | c.190C>T (p.His64Tyr) c.438-2464C>T (n.438-2464C>T) c.*8C>T (n.*8C>T) c.289C>T (p.His97Tyr) c.169C>T (p.His57Tyr) n.347C>T c.514C>T (p.His172Tyr) | |
11 | g.72106142A>C | CA381718000 | LRRC51,LRTOMT,TOMT | c.191A>C (p.His64Pro) c.438-2463A>C (n.438-2463A>C) c.*9A>C (n.*9A>C) c.290A>C (p.His97Pro) c.170A>C (p.His57Pro) n.348A>C c.515A>C (p.His172Pro) | |
11 | g.72106142A>G | CA381718003 | LRRC51,LRTOMT,TOMT | c.191A>G (p.His64Arg) c.438-2463A>G (n.438-2463A>G) c.*9A>G (n.*9A>G) c.290A>G (p.His97Arg) c.170A>G (p.His57Arg) n.348A>G c.515A>G (p.His172Arg) | |
11 | g.72106142A>T | CA381718006 | LRRC51,LRTOMT,TOMT | c.191A>T (p.His64Leu) c.438-2463A>T (n.438-2463A>T) c.*9A>T (n.*9A>T) c.290A>T (p.His97Leu) c.170A>T (p.His57Leu) n.348A>T c.515A>T (p.His172Leu) | |
11 | g.72106143C>A | CA381718010 | LRRC51,LRTOMT,TOMT | c.192C>A (p.His64Gln) c.438-2462C>A (n.438-2462C>A) c.*10C>A (n.*10C>A) c.291C>A (p.His97Gln) c.171C>A (p.His57Gln) n.349C>A c.516C>A (p.His172Gln) | gnomAD v4 |
11 | g.72106143C= | CA1981839929 | LRRC51,LRTOMT,TOMT | c.192C= (p.His64=) c.438-2462C= (n.438-2462C=) c.*10C= (n.*10C=) c.291C= (p.His97=) c.171C= (p.His57=) n.349C= c.516C= (p.His172=) | |
11 | g.72106143C>G | CA381718013 | LRRC51,LRTOMT,TOMT | c.192C>G (p.His64Gln) c.438-2462C>G (n.438-2462C>G) c.*10C>G (n.*10C>G) c.291C>G (p.His97Gln) c.171C>G (p.His57Gln) n.349C>G c.516C>G (p.His172Gln) | |
11 | g.72106143C>T | CA6168586 | LRRC51,LRTOMT,TOMT | c.192C>T (p.His64=) c.438-2462C>T (n.438-2462C>T) c.*10C>T (n.*10C>T) c.291C>T (p.His97=) c.171C>T (p.His57=) n.349C>T c.516C>T (p.His172=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.72106144A= | CA1981839930 | LRRC51,LRTOMT,TOMT | c.193A= (p.Ile65=) c.438-2461A= (n.438-2461A=) c.*11A= (n.*11A=) c.292A= (p.Ile98=) c.172A= (p.Ile58=) n.350A= c.517A= (p.Ile173=) | |
11 | g.72106144A>C | CA381718023 | LRRC51,LRTOMT,TOMT | c.193A>C (p.Ile65Leu) c.438-2461A>C (n.438-2461A>C) c.*11A>C (n.*11A>C) c.292A>C (p.Ile98Leu) c.172A>C (p.Ile58Leu) n.350A>C c.517A>C (p.Ile173Leu) | dbSNP |
11 | g.72106144A>G | CA381718027 | LRRC51,LRTOMT,TOMT | c.193A>G (p.Ile65Val) c.438-2461A>G (n.438-2461A>G) c.*11A>G (n.*11A>G) c.292A>G (p.Ile98Val) c.172A>G (p.Ile58Val) n.350A>G c.517A>G (p.Ile173Val) | |
11 | g.72106144A>T | CA381718021 | LRRC51,LRTOMT,TOMT | c.193A>T (p.Ile65Phe) c.438-2461A>T (n.438-2461A>T) c.*11A>T (n.*11A>T) c.292A>T (p.Ile98Phe) c.172A>T (p.Ile58Phe) n.350A>T c.517A>T (p.Ile173Phe) | |
11 | g.72106145T>A | CA381718044 | LRRC51,LRTOMT,TOMT | c.194T>A (p.Ile65Asn) c.438-2460T>A (n.438-2460T>A) c.*12T>A (n.*12T>A) c.293T>A (p.Ile98Asn) c.173T>A (p.Ile58Asn) n.351T>A c.518T>A (p.Ile173Asn) | |
11 | g.72106145T>C | CA381718046 | LRRC51,LRTOMT,TOMT | c.194T>C (p.Ile65Thr) c.438-2460T>C (n.438-2460T>C) c.*12T>C (n.*12T>C) c.293T>C (p.Ile98Thr) c.173T>C (p.Ile58Thr) n.351T>C c.518T>C (p.Ile173Thr) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72106145T>G | CA381718049 | LRRC51,LRTOMT,TOMT | c.194T>G (p.Ile65Ser) c.438-2460T>G (n.438-2460T>G) c.*12T>G (n.*12T>G) c.293T>G (p.Ile98Ser) c.173T>G (p.Ile58Ser) n.351T>G c.518T>G (p.Ile173Ser) | |
11 | g.72106145T= | CA1981839931 | LRRC51,LRTOMT,TOMT | c.194T= (p.Ile65=) c.438-2460T= (n.438-2460T=) c.*12T= (n.*12T=) c.293T= (p.Ile98=) c.173T= (p.Ile58=) n.351T= c.518T= (p.Ile173=) | |
11 | g.72106146C>A | CA475864904 | LRRC51,LRTOMT,TOMT | c.195C>A (p.Ile65=) c.438-2459C>A (n.438-2459C>A) c.*13C>A (n.*13C>A) c.294C>A (p.Ile98=) c.174C>A (p.Ile58=) n.352C>A c.519C>A (p.Ile173=) | |
11 | g.72106146C>G | CA381718053 | LRRC51,LRTOMT,TOMT | c.195C>G (p.Ile65Met) c.438-2459C>G (n.438-2459C>G) c.*13C>G (n.*13C>G) c.294C>G (p.Ile98Met) c.174C>G (p.Ile58Met) n.352C>G c.519C>G (p.Ile173Met) | gnomAD v4 |
11 | g.72106146C>T | CA475864903 | LRRC51,LRTOMT,TOMT | c.195C>T (p.Ile65=) c.438-2459C>T (n.438-2459C>T) c.*13C>T (n.*13C>T) c.294C>T (p.Ile98=) c.174C>T (p.Ile58=) n.352C>T c.519C>T (p.Ile173=) | gnomAD v4 |
11 | g.72106147C>A | CA381718062 | LRRC51,LRTOMT,TOMT | c.196C>A (p.Leu66Ile) c.438-2458C>A (n.438-2458C>A) c.*14C>A (n.*14C>A) c.295C>A (p.Leu99Ile) c.175C>A (p.Leu59Ile) n.353C>A c.520C>A (p.Leu174Ile) | |
11 | g.72106147C= | CA1981839932 | LRRC51,LRTOMT,TOMT | c.196C= (p.Leu66=) c.438-2458C= (n.438-2458C=) c.*14C= (n.*14C=) c.295C= (p.Leu99=) c.175C= (p.Leu59=) n.353C= c.520C= (p.Leu174=) | |
11 | g.72106147C>G | CA381718060 | LRRC51,LRTOMT,TOMT | c.196C>G (p.Leu66Val) c.438-2458C>G (n.438-2458C>G) c.*14C>G (n.*14C>G) c.295C>G (p.Leu99Val) c.175C>G (p.Leu59Val) n.353C>G c.520C>G (p.Leu174Val) | |
11 | g.72106147C>T | CA381718057 | LRRC51,LRTOMT,TOMT | c.196C>T (p.Leu66Phe) c.438-2458C>T (n.438-2458C>T) c.*14C>T (n.*14C>T) c.295C>T (p.Leu99Phe) c.175C>T (p.Leu59Phe) n.353C>T c.520C>T (p.Leu174Phe) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72106148T>A | CA381718067 | LRRC51,LRTOMT,TOMT | c.197T>A (p.Leu66His) c.438-2457T>A (n.438-2457T>A) c.*15T>A (n.*15T>A) c.296T>A (p.Leu99His) c.176T>A (p.Leu59His) n.354T>A c.521T>A (p.Leu174His) | |
11 | g.72106148T>C | CA381718069 | LRRC51,LRTOMT,TOMT | c.197T>C (p.Leu66Pro) c.438-2457T>C (n.438-2457T>C) c.*15T>C (n.*15T>C) c.296T>C (p.Leu99Pro) c.176T>C (p.Leu59Pro) n.354T>C c.521T>C (p.Leu174Pro) | |
11 | g.72106148T>G | CA381718071 | LRRC51,LRTOMT,TOMT | c.197T>G (p.Leu66Arg) c.438-2457T>G (n.438-2457T>G) c.*15T>G (n.*15T>G) c.296T>G (p.Leu99Arg) c.176T>G (p.Leu59Arg) n.354T>G c.521T>G (p.Leu174Arg) | |
11 | g.72106149C>A | CA475864905 | LRRC51,LRTOMT,TOMT | c.198C>A (p.Leu66=) c.438-2456C>A (n.438-2456C>A) c.*16C>A (n.*16C>A) c.297C>A (p.Leu99=) c.177C>A (p.Leu59=) n.355C>A c.522C>A (p.Leu174=) | gnomAD v4 |
11 | g.72106149C>G | CA475864907 | LRRC51,LRTOMT,TOMT | c.198C>G (p.Leu66=) c.438-2456C>G (n.438-2456C>G) c.*16C>G (n.*16C>G) c.297C>G (p.Leu99=) c.177C>G (p.Leu59=) n.355C>G c.522C>G (p.Leu174=) | |
11 | g.72106149C>T | CA475864906 | LRRC51,LRTOMT,TOMT | c.198C>T (p.Leu66=) c.438-2456C>T (n.438-2456C>T) c.*16C>T (n.*16C>T) c.297C>T (p.Leu99=) c.177C>T (p.Leu59=) n.355C>T c.522C>T (p.Leu174=) | |
11 | g.72106150A>C | CA381718076 | LRRC51,LRTOMT,TOMT | c.199A>C (p.Thr67Pro) c.438-2455A>C (n.438-2455A>C) c.*17A>C (n.*17A>C) c.298A>C (p.Thr100Pro) c.178A>C (p.Thr60Pro) n.356A>C c.523A>C (p.Thr175Pro) | |
11 | g.72106150A>G | CA381718078 | LRRC51,LRTOMT,TOMT | c.199A>G (p.Thr67Ala) c.438-2455A>G (n.438-2455A>G) c.*17A>G (n.*17A>G) c.298A>G (p.Thr100Ala) c.178A>G (p.Thr60Ala) n.356A>G c.523A>G (p.Thr175Ala) | |
11 | g.72106150A>T | CA381718082 | LRRC51,LRTOMT,TOMT | c.199A>T (p.Thr67Ser) c.438-2455A>T (n.438-2455A>T) c.*17A>T (n.*17A>T) c.298A>T (p.Thr100Ser) c.178A>T (p.Thr60Ser) n.356A>T c.523A>T (p.Thr175Ser) | |
11 | g.72106151C>A | CA381718087 | LRRC51,LRTOMT,TOMT | c.200C>A (p.Thr67Asn) c.438-2454C>A (n.438-2454C>A) c.*18C>A (n.*18C>A) c.299C>A (p.Thr100Asn) c.179C>A (p.Thr60Asn) n.357C>A c.524C>A (p.Thr175Asn) | gnomAD v4 |
11 | g.72106151C>G | CA381718086 | LRRC51,LRTOMT,TOMT | c.200C>G (p.Thr67Ser) c.438-2454C>G (n.438-2454C>G) c.*18C>G (n.*18C>G) c.299C>G (p.Thr100Ser) c.179C>G (p.Thr60Ser) n.357C>G c.524C>G (p.Thr175Ser) | |
11 | g.72106151C>T | CA381718085 | LRRC51,LRTOMT,TOMT | c.200C>T (p.Thr67Ile) c.438-2454C>T (n.438-2454C>T) c.*18C>T (n.*18C>T) c.299C>T (p.Thr100Ile) c.179C>T (p.Thr60Ile) n.357C>T c.524C>T (p.Thr175Ile) | gnomAD v4 |
11 | g.72106152del | CA2614917647 | LRRC51,LRTOMT,TOMT | c.201del (p.Thr68ProfsTer12) c.438-2453del (n.438-2453del) c.*19del (n.*19del) c.300del (p.Thr101ProfsTer12) c.180del (p.Thr61ProfsTer12) n.358del c.525del (p.Thr176ProfsTer12) | gnomAD v4 |
11 | g.72106152C>A | CA475864908 | LRRC51,LRTOMT,TOMT | c.201C>A (p.Thr67=) c.438-2453C>A (n.438-2453C>A) c.*19C>A (n.*19C>A) c.300C>A (p.Thr100=) c.180C>A (p.Thr60=) n.358C>A c.525C>A (p.Thr175=) | |
11 | g.72106152C>G | CA475864909 | LRRC51,LRTOMT,TOMT | c.201C>G (p.Thr67=) c.438-2453C>G (n.438-2453C>G) c.*19C>G (n.*19C>G) c.300C>G (p.Thr100=) c.180C>G (p.Thr60=) n.358C>G c.525C>G (p.Thr175=) | |
11 | g.72106152C>T | CA475864910 | LRRC51,LRTOMT,TOMT | c.201C>T (p.Thr67=) c.438-2453C>T (n.438-2453C>T) c.*19C>T (n.*19C>T) c.300C>T (p.Thr100=) c.180C>T (p.Thr60=) n.358C>T c.525C>T (p.Thr175=) | |
11 | g.72106153A>C | CA381718089 | LRRC51,LRTOMT,TOMT | c.202A>C (p.Thr68Pro) c.438-2452A>C (n.438-2452A>C) c.*20A>C (n.*20A>C) c.301A>C (p.Thr101Pro) c.181A>C (p.Thr61Pro) n.359A>C c.526A>C (p.Thr176Pro) | |
11 | g.72106153A>G | CA381718094 | LRRC51,LRTOMT,TOMT | c.202A>G (p.Thr68Ala) c.438-2452A>G (n.438-2452A>G) c.*20A>G (n.*20A>G) c.301A>G (p.Thr101Ala) c.181A>G (p.Thr61Ala) n.359A>G c.526A>G (p.Thr176Ala) | |
11 | g.72106153A>T | CA381718091 | LRRC51,LRTOMT,TOMT | c.202A>T (p.Thr68Ser) c.438-2452A>T (n.438-2452A>T) c.*20A>T (n.*20A>T) c.301A>T (p.Thr101Ser) c.181A>T (p.Thr61Ser) n.359A>T c.526A>T (p.Thr176Ser) | |
11 | g.72106154C>A | CA381718106 | LRRC51,LRTOMT,TOMT | c.203C>A (p.Thr68Asn) c.438-2451C>A (n.438-2451C>A) c.*21C>A (n.*21C>A) c.302C>A (p.Thr101Asn) c.182C>A (p.Thr61Asn) n.360C>A c.527C>A (p.Thr176Asn) | dbSNP gnomAD v4 |
11 | g.72106154C= | CA1981839933 | LRRC51,LRTOMT,TOMT | c.203C= (p.Thr68=) c.438-2451C= (n.438-2451C=) c.*21C= (n.*21C=) c.302C= (p.Thr101=) c.182C= (p.Thr61=) n.360C= c.527C= (p.Thr176=) | |
11 | g.72106154C>G | CA381718110 | LRRC51,LRTOMT,TOMT | c.203C>G (p.Thr68Ser) c.438-2451C>G (n.438-2451C>G) c.*21C>G (n.*21C>G) c.302C>G (p.Thr101Ser) c.182C>G (p.Thr61Ser) n.360C>G c.527C>G (p.Thr176Ser) | |
11 | g.72106154C>T | CA224374571 | LRRC51,LRTOMT,TOMT | c.203C>T (p.Thr68Ile) c.438-2451C>T (n.438-2451C>T) c.*21C>T (n.*21C>T) c.302C>T (p.Thr101Ile) c.182C>T (p.Thr61Ile) n.360C>T c.527C>T (p.Thr176Ile) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72106155C>A | CA475864911 | LRRC51,LRTOMT,TOMT | c.204C>A (p.Thr68=) c.438-2450C>A (n.438-2450C>A) c.*22C>A (n.*22C>A) c.303C>A (p.Thr101=) c.183C>A (p.Thr61=) n.361C>A c.528C>A (p.Thr176=) | |
11 | g.72106155C= | CA1981839934 | LRRC51,LRTOMT,TOMT | c.204C= (p.Thr68=) c.438-2450C= (n.438-2450C=) c.*22C= (n.*22C=) c.303C= (p.Thr101=) c.183C= (p.Thr61=) n.361C= c.528C= (p.Thr176=) | |
11 | g.72106155C>G | CA475864912 | LRRC51,LRTOMT,TOMT | c.204C>G (p.Thr68=) c.438-2450C>G (n.438-2450C>G) c.*22C>G (n.*22C>G) c.303C>G (p.Thr101=) c.183C>G (p.Thr61=) n.361C>G c.528C>G (p.Thr176=) | |
11 | g.72106155C>T | CA475864913 | LRRC51,LRTOMT,TOMT | c.204C>T (p.Thr68=) c.438-2450C>T (n.438-2450C>T) c.*22C>T (n.*22C>T) c.303C>T (p.Thr101=) c.183C>T (p.Thr61=) n.361C>T c.528C>T (p.Thr176=) | dbSNP gnomAD v4 |
11 | g.72106157_72106174dup | CA2614917653 | LRRC51,LRTOMT,TOMT | c.206_223dup (p.Ser74_Arg75insLeuAspHisTrpSerSer) c.438-2448_438-2431dup (n.438-2448_438-2431dup) c.*24_*41dup (n.*24_*41dup) c.305_322dup (p.Ser107_Arg108insLeuAspHisTrpSerSer) c.185_202dup (p.Ser67_Arg68insLeuAspHisTrpSerSer) n.363_380dup c.530_547dup (p.Ser182_Arg183insLeuAspHisTrpSerSer) | gnomAD v4 |
11 | g.72106156C>A | CA381718120 | LRRC51,LRTOMT,TOMT | c.205C>A (p.Leu69Met) c.438-2449C>A (n.438-2449C>A) c.*23C>A (n.*23C>A) c.304C>A (p.Leu102Met) c.184C>A (p.Leu62Met) n.362C>A c.529C>A (p.Leu177Met) | gnomAD v4 |
11 | g.72106156C= | CA1981839935 | LRRC51,LRTOMT,TOMT | c.205C= (p.Leu69=) c.438-2449C= (n.438-2449C=) c.*23C= (n.*23C=) c.304C= (p.Leu102=) c.184C= (p.Leu62=) n.362C= c.529C= (p.Leu177=) | |
11 | g.72106156C>G | CA381718121 | LRRC51,LRTOMT,TOMT | c.205C>G (p.Leu69Val) c.438-2449C>G (n.438-2449C>G) c.*23C>G (n.*23C>G) c.304C>G (p.Leu102Val) c.184C>G (p.Leu62Val) n.362C>G c.529C>G (p.Leu177Val) | |
11 | g.72106156C>T | CA475864914 | LRRC51,LRTOMT,TOMT | c.205C>T (p.Leu69=) c.438-2449C>T (n.438-2449C>T) c.*23C>T (n.*23C>T) c.304C>T (p.Leu102=) c.184C>T (p.Leu62=) n.362C>T c.529C>T (p.Leu177=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72106157T>A | CA381718123 | LRRC51,LRTOMT,TOMT | c.206T>A (p.Leu69Gln) c.438-2448T>A (n.438-2448T>A) c.*24T>A (n.*24T>A) c.305T>A (p.Leu102Gln) c.185T>A (p.Leu62Gln) n.363T>A c.530T>A (p.Leu177Gln) | |
11 | g.72106157T>C | CA381718125 | LRRC51,LRTOMT,TOMT | c.206T>C (p.Leu69Pro) c.438-2448T>C (n.438-2448T>C) c.*24T>C (n.*24T>C) c.305T>C (p.Leu102Pro) c.185T>C (p.Leu62Pro) n.363T>C c.530T>C (p.Leu177Pro) | dbSNP gnomAD v4 |
11 | g.72106157T>G | CA381718127 | LRRC51,LRTOMT,TOMT | c.206T>G (p.Leu69Arg) c.438-2448T>G (n.438-2448T>G) c.*24T>G (n.*24T>G) c.305T>G (p.Leu102Arg) c.185T>G (p.Leu62Arg) n.363T>G c.530T>G (p.Leu177Arg) | |
11 | g.72106157T= | CA1981839936 | LRRC51,LRTOMT,TOMT | c.206T= (p.Leu69=) c.438-2448T= (n.438-2448T=) c.*24T= (n.*24T=) c.305T= (p.Leu102=) c.185T= (p.Leu62=) n.363T= c.530T= (p.Leu177=) | |
11 | g.72106158G>A | CA475864915 | LRRC51,LRTOMT,TOMT | c.207G>A (p.Leu69=) c.438-2447G>A (n.438-2447G>A) c.*25G>A (n.*25G>A) c.306G>A (p.Leu102=) c.186G>A (p.Leu62=) n.364G>A c.531G>A (p.Leu177=) | |
11 | g.72106158G>C | CA475864916 | LRRC51,LRTOMT,TOMT | c.207G>C (p.Leu69=) c.438-2447G>C (n.438-2447G>C) c.*25G>C (n.*25G>C) c.306G>C (p.Leu102=) c.186G>C (p.Leu62=) n.364G>C c.531G>C (p.Leu177=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72106158G= | CA1981839937 | LRRC51,LRTOMT,TOMT | c.207G= (p.Leu69=) c.438-2447G= (n.438-2447G=) c.*25G= (n.*25G=) c.306G= (p.Leu102=) c.186G= (p.Leu62=) n.364G= c.531G= (p.Leu177=) | |
11 | g.72106158G>T | CA475864917 | LRRC51,LRTOMT,TOMT | c.207G>T (p.Leu69=) c.438-2447G>T (n.438-2447G>T) c.*25G>T (n.*25G>T) c.306G>T (p.Leu102=) c.186G>T (p.Leu62=) n.364G>T c.531G>T (p.Leu177=) | gnomAD v4 |
11 | g.72106159del | CA2614917662 | LRRC51,LRTOMT,TOMT | c.208del (p.Asp70ThrfsTer10) c.438-2446del (n.438-2446del) c.*26del (n.*26del) c.307del (p.Asp103ThrfsTer10) c.187del (p.Asp63ThrfsTer10) n.365del c.532del (p.Asp178ThrfsTer10) | gnomAD v4 |
11 | g.72106159G>A | CA381718130 | LRRC51,LRTOMT,TOMT | c.208G>A (p.Asp70Asn) c.438-2446G>A (n.438-2446G>A) c.*26G>A (n.*26G>A) c.307G>A (p.Asp103Asn) c.187G>A (p.Asp63Asn) n.365G>A c.532G>A (p.Asp178Asn) | |
11 | g.72106159G>C | CA381718134 | LRRC51,LRTOMT,TOMT | c.208G>C (p.Asp70His) c.438-2446G>C (n.438-2446G>C) c.*26G>C (n.*26G>C) c.307G>C (p.Asp103His) c.187G>C (p.Asp63His) n.365G>C c.532G>C (p.Asp178His) | |
11 | g.72106159G>T | CA381718132 | LRRC51,LRTOMT,TOMT | c.208G>T (p.Asp70Tyr) c.438-2446G>T (n.438-2446G>T) c.*26G>T (n.*26G>T) c.307G>T (p.Asp103Tyr) c.187G>T (p.Asp63Tyr) n.365G>T c.532G>T (p.Asp178Tyr) | gnomAD v4 |
11 | g.72106160A>C | CA381718136 | LRRC51,LRTOMT,TOMT | c.209A>C (p.Asp70Ala) c.438-2445A>C (n.438-2445A>C) c.*27A>C (n.*27A>C) c.308A>C (p.Asp103Ala) c.188A>C (p.Asp63Ala) n.366A>C c.533A>C (p.Asp178Ala) | gnomAD v4 |
11 | g.72106160A>G | CA381718137 | LRRC51,LRTOMT,TOMT | c.209A>G (p.Asp70Gly) c.438-2445A>G (n.438-2445A>G) c.*27A>G (n.*27A>G) c.308A>G (p.Asp103Gly) c.188A>G (p.Asp63Gly) n.366A>G c.533A>G (p.Asp178Gly) | |
11 | g.72106160A>T | CA381718140 | LRRC51,LRTOMT,TOMT | c.209A>T (p.Asp70Val) c.438-2445A>T (n.438-2445A>T) c.*27A>T (n.*27A>T) c.308A>T (p.Asp103Val) c.188A>T (p.Asp63Val) n.366A>T c.533A>T (p.Asp178Val) | |
11 | g.72106161C>A | CA381718142 | LRRC51,LRTOMT,TOMT | c.210C>A (p.Asp70Glu) c.438-2444C>A (n.438-2444C>A) c.*28C>A (n.*28C>A) c.309C>A (p.Asp103Glu) c.189C>A (p.Asp63Glu) n.367C>A c.534C>A (p.Asp178Glu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72106161C= | CA1981839938 | LRRC51,LRTOMT,TOMT | c.210C= (p.Asp70=) c.438-2444C= (n.438-2444C=) c.*28C= (n.*28C=) c.309C= (p.Asp103=) c.189C= (p.Asp63=) n.367C= c.534C= (p.Asp178=) | |
11 | g.72106161C>G | CA381718145 | LRRC51,LRTOMT,TOMT | c.210C>G (p.Asp70Glu) c.438-2444C>G (n.438-2444C>G) c.*28C>G (n.*28C>G) c.309C>G (p.Asp103Glu) c.189C>G (p.Asp63Glu) n.367C>G c.534C>G (p.Asp178Glu) | |
11 | g.72106161C>T | CA475864918 | LRRC51,LRTOMT,TOMT | c.210C>T (p.Asp70=) c.438-2444C>T (n.438-2444C>T) c.*28C>T (n.*28C>T) c.309C>T (p.Asp103=) c.189C>T (p.Asp63=) n.367C>T c.534C>T (p.Asp178=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72106162C>A | CA381718148 | LRRC51,LRTOMT,TOMT | c.211C>A (p.His71Asn) c.438-2443C>A (n.438-2443C>A) c.*29C>A (n.*29C>A) c.310C>A (p.His104Asn) c.190C>A (p.His64Asn) n.368C>A c.535C>A (p.His179Asn) | gnomAD v4 |
11 | g.72106162C>G | CA381718153 | LRRC51,LRTOMT,TOMT | c.211C>G (p.His71Asp) c.438-2443C>G (n.438-2443C>G) c.*29C>G (n.*29C>G) c.310C>G (p.His104Asp) c.190C>G (p.His64Asp) n.368C>G c.535C>G (p.His179Asp) | |
11 | g.72106162C>T | CA381718151 | LRRC51,LRTOMT,TOMT | c.211C>T (p.His71Tyr) c.438-2443C>T (n.438-2443C>T) c.*29C>T (n.*29C>T) c.310C>T (p.His104Tyr) c.190C>T (p.His64Tyr) n.368C>T c.535C>T (p.His179Tyr) | |
11 | g.72106163A= | CA1981839939 | LRRC51,LRTOMT,TOMT | c.212A= (p.His71=) c.438-2442A= (n.438-2442A=) c.*30A= (n.*30A=) c.311A= (p.His104=) c.191A= (p.His64=) n.369A= c.536A= (p.His179=) | |
11 | g.72106163A>C | CA381718154 | LRRC51,LRTOMT,TOMT | c.212A>C (p.His71Pro) c.438-2442A>C (n.438-2442A>C) c.*30A>C (n.*30A>C) c.311A>C (p.His104Pro) c.191A>C (p.His64Pro) n.369A>C c.536A>C (p.His179Pro) | |
11 | g.72106163A>G | CA381718156 | LRRC51,LRTOMT,TOMT | c.212A>G (p.His71Arg) c.438-2442A>G (n.438-2442A>G) c.*30A>G (n.*30A>G) c.311A>G (p.His104Arg) c.191A>G (p.His64Arg) n.369A>G c.536A>G (p.His179Arg) | |
11 | g.72106163A>T | CA381718159 | LRRC51,LRTOMT,TOMT | c.212A>T (p.His71Leu) c.438-2442A>T (n.438-2442A>T) c.*30A>T (n.*30A>T) c.311A>T (p.His104Leu) c.191A>T (p.His64Leu) n.369A>T c.536A>T (p.His179Leu) | |
11 | g.72106164C>A | CA381718162 | LRRC51,LRTOMT,TOMT | c.213C>A (p.His71Gln) c.438-2441C>A (n.438-2441C>A) c.*31C>A (n.*31C>A) c.312C>A (p.His104Gln) c.192C>A (p.His64Gln) n.370C>A c.537C>A (p.His179Gln) | |
11 | g.72106164C>G | CA381718163 | LRRC51,LRTOMT,TOMT | c.213C>G (p.His71Gln) c.438-2441C>G (n.438-2441C>G) c.*31C>G (n.*31C>G) c.312C>G (p.His104Gln) c.192C>G (p.His64Gln) n.370C>G c.537C>G (p.His179Gln) | |
11 | g.72106164C>T | CA475864919 | LRRC51,LRTOMT,TOMT | c.213C>T (p.His71=) c.438-2441C>T (n.438-2441C>T) c.*31C>T (n.*31C>T) c.312C>T (p.His104=) c.192C>T (p.His64=) n.370C>T c.537C>T (p.His179=) | |
11 | g.72106164_72106165dup | CA6168587 | LRRC51,LRTOMT,TOMT | c.213_214dup (p.Trp72SerfsTer9) c.438-2441_438-2440dup (n.438-2441_438-2440dup) c.*31_*32dup (n.*31_*32dup) c.312_313dup (p.Trp105SerfsTer9) c.192_193dup (p.Trp65SerfsTer9) n.370_371dup c.537_538dup (p.Trp180SerfsTer9) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.72106165T>A | CA381718166 | LRRC51,LRTOMT,TOMT | c.214T>A (p.Trp72Arg) c.438-2440T>A (n.438-2440T>A) c.*32T>A (n.*32T>A) c.313T>A (p.Trp105Arg) c.193T>A (p.Trp65Arg) n.371T>A c.538T>A (p.Trp180Arg) | |
11 | g.72106165T>C | CA251497 | LRRC51,LRTOMT,TOMT | c.214T>C (p.Trp72Arg) c.438-2440T>C (n.438-2440T>C) c.*32T>C (n.*32T>C) c.313T>C (p.Trp105Arg) c.193T>C (p.Trp65Arg) n.371T>C c.538T>C (p.Trp180Arg) | ClinVar dbSNP gnomAD v4 |
11 | g.72106165T>G | CA381718169 | LRRC51,LRTOMT,TOMT | c.214T>G (p.Trp72Gly) c.438-2440T>G (n.438-2440T>G) c.*32T>G (n.*32T>G) c.313T>G (p.Trp105Gly) c.193T>G (p.Trp65Gly) n.371T>G c.538T>G (p.Trp180Gly) | |
11 | g.72106165T= | CA1981839940 | LRRC51,LRTOMT,TOMT | c.214T= (p.Trp72=) c.438-2440T= (n.438-2440T=) c.*32T= (n.*32T=) c.313T= (p.Trp105=) c.193T= (p.Trp65=) n.371T= c.538T= (p.Trp180=) | |
11 | g.72106166G>A | CA381718172 | LRRC51,LRTOMT,TOMT | c.215G>A (p.Trp72Ter) c.438-2439G>A (n.438-2439G>A) c.*33G>A (n.*33G>A) c.314G>A (p.Trp105Ter) c.194G>A (p.Trp65Ter) n.372G>A c.539G>A (p.Trp180Ter) | |
11 | g.72106166G>C | CA381718173 | LRRC51,LRTOMT,TOMT | c.215G>C (p.Trp72Ser) c.438-2439G>C (n.438-2439G>C) c.*33G>C (n.*33G>C) c.314G>C (p.Trp105Ser) c.194G>C (p.Trp65Ser) n.372G>C c.539G>C (p.Trp180Ser) | |
11 | g.72106166G>T | CA381718176 | LRRC51,LRTOMT,TOMT | c.215G>T (p.Trp72Leu) c.438-2439G>T (n.438-2439G>T) c.*33G>T (n.*33G>T) c.314G>T (p.Trp105Leu) c.194G>T (p.Trp65Leu) n.372G>T c.539G>T (p.Trp180Leu) | gnomAD v4 |
11 | g.72106167G>A | CA381718179 | LRRC51,LRTOMT,TOMT | c.216G>A (p.Trp72Ter) c.438-2438G>A (n.438-2438G>A) c.*34G>A (n.*34G>A) c.315G>A (p.Trp105Ter) c.195G>A (p.Trp65Ter) n.373G>A c.540G>A (p.Trp180Ter) | gnomAD v4 |
11 | g.72106167G>C | CA381718182 | LRRC51,LRTOMT,TOMT | c.216G>C (p.Trp72Cys) c.438-2438G>C (n.438-2438G>C) c.*34G>C (n.*34G>C) c.315G>C (p.Trp105Cys) c.195G>C (p.Trp65Cys) n.373G>C c.540G>C (p.Trp180Cys) | |
11 | g.72106167G>T | CA381718181 | LRRC51,LRTOMT,TOMT | c.216G>T (p.Trp72Cys) c.438-2438G>T (n.438-2438G>T) c.*34G>T (n.*34G>T) c.315G>T (p.Trp105Cys) c.195G>T (p.Trp65Cys) n.373G>T c.540G>T (p.Trp180Cys) | gnomAD v4 |
11 | g.72106168A= | CA1981839941 | LRRC51,LRTOMT,TOMT | c.217A= (p.Ser73=) c.438-2437A= (n.438-2437A=) c.*35A= (n.*35A=) c.316A= (p.Ser106=) c.196A= (p.Ser66=) n.374A= c.541A= (p.Ser181=) | |
11 | g.72106168A>C | CA381718183 | LRRC51,LRTOMT,TOMT | c.217A>C (p.Ser73Arg) c.438-2437A>C (n.438-2437A>C) c.*35A>C (n.*35A>C) c.316A>C (p.Ser106Arg) c.196A>C (p.Ser66Arg) n.374A>C c.541A>C (p.Ser181Arg) | |
11 | g.72106168A>G | CA381718184 | LRRC51,LRTOMT,TOMT | c.217A>G (p.Ser73Gly) c.438-2437A>G (n.438-2437A>G) c.*35A>G (n.*35A>G) c.316A>G (p.Ser106Gly) c.196A>G (p.Ser66Gly) n.374A>G c.541A>G (p.Ser181Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72106168A>T | CA381718185 | LRRC51,LRTOMT,TOMT | c.217A>T (p.Ser73Cys) c.438-2437A>T (n.438-2437A>T) c.*35A>T (n.*35A>T) c.316A>T (p.Ser106Cys) c.196A>T (p.Ser66Cys) n.374A>T c.541A>T (p.Ser181Cys) | gnomAD v4 |
11 | g.72106169G>A | CA381718189 | LRRC51,LRTOMT,TOMT | c.218G>A (p.Ser73Asn) c.438-2436G>A (n.438-2436G>A) c.*36G>A (n.*36G>A) c.317G>A (p.Ser106Asn) c.197G>A (p.Ser66Asn) n.375G>A c.542G>A (p.Ser181Asn) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72106169G>C | CA381718191 | LRRC51,LRTOMT,TOMT | c.218G>C (p.Ser73Thr) c.438-2436G>C (n.438-2436G>C) c.*36G>C (n.*36G>C) c.317G>C (p.Ser106Thr) c.197G>C (p.Ser66Thr) n.375G>C c.542G>C (p.Ser181Thr) | |
11 | g.72106169G= | CA1981839942 | LRRC51,LRTOMT,TOMT | c.218G= (p.Ser73=) c.438-2436G= (n.438-2436G=) c.*36G= (n.*36G=) c.317G= (p.Ser106=) c.197G= (p.Ser66=) n.375G= c.542G= (p.Ser181=) | |
11 | g.72106169G>T | CA381718193 | LRRC51,LRTOMT,TOMT | c.218G>T (p.Ser73Ile) c.438-2436G>T (n.438-2436G>T) c.*36G>T (n.*36G>T) c.317G>T (p.Ser106Ile) c.197G>T (p.Ser66Ile) n.375G>T c.542G>T (p.Ser181Ile) | gnomAD v4 |
11 | g.72106170C>A | CA381718196 | LRRC51,LRTOMT,TOMT | c.219C>A (p.Ser73Arg) c.438-2435C>A (n.438-2435C>A) c.*37C>A (n.*37C>A) c.318C>A (p.Ser106Arg) c.198C>A (p.Ser66Arg) n.376C>A c.543C>A (p.Ser181Arg) | gnomAD v4 |
11 | g.72106170C>G | CA381718198 | LRRC51,LRTOMT,TOMT | c.219C>G (p.Ser73Arg) c.438-2435C>G (n.438-2435C>G) c.*37C>G (n.*37C>G) c.318C>G (p.Ser106Arg) c.198C>G (p.Ser66Arg) n.376C>G c.543C>G (p.Ser181Arg) | |
11 | g.72106170C>T | CA475864920 | LRRC51,LRTOMT,TOMT | c.219C>T (p.Ser73=) c.438-2435C>T (n.438-2435C>T) c.*37C>T (n.*37C>T) c.318C>T (p.Ser106=) c.198C>T (p.Ser66=) n.376C>T c.543C>T (p.Ser181=) | |
11 | g.72106171A>C | CA381718199 | LRRC51,LRTOMT,TOMT | c.220A>C (p.Ser74Arg) c.438-2434A>C (n.438-2434A>C) c.*38A>C (n.*38A>C) c.319A>C (p.Ser107Arg) c.199A>C (p.Ser67Arg) n.377A>C c.544A>C (p.Ser182Arg) | |
11 | g.72106171A>G | CA381718200 | LRRC51,LRTOMT,TOMT | c.220A>G (p.Ser74Gly) c.438-2434A>G (n.438-2434A>G) c.*38A>G (n.*38A>G) c.319A>G (p.Ser107Gly) c.199A>G (p.Ser67Gly) n.377A>G c.544A>G (p.Ser182Gly) | COSMIC |
11 | g.72106171A>T | CA381718201 | LRRC51,LRTOMT,TOMT | c.220A>T (p.Ser74Cys) c.438-2434A>T (n.438-2434A>T) c.*38A>T (n.*38A>T) c.319A>T (p.Ser107Cys) c.199A>T (p.Ser67Cys) n.377A>T c.544A>T (p.Ser182Cys) | |
11 | g.72106172G>A | CA381718203 | LRRC51,LRTOMT,TOMT | c.221G>A (p.Ser74Asn) c.438-2433G>A (n.438-2433G>A) c.*39G>A (n.*39G>A) c.320G>A (p.Ser107Asn) c.200G>A (p.Ser67Asn) n.378G>A c.545G>A (p.Ser182Asn) | |
11 | g.72106172G>C | CA6168588 | LRRC51,LRTOMT,TOMT | c.221G>C (p.Ser74Thr) c.438-2433G>C (n.438-2433G>C) c.*39G>C (n.*39G>C) c.320G>C (p.Ser107Thr) c.200G>C (p.Ser67Thr) n.378G>C c.545G>C (p.Ser182Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.72106172G= | CA1981839943 | LRRC51,LRTOMT,TOMT | c.221G= (p.Ser74=) c.438-2433G= (n.438-2433G=) c.*39G= (n.*39G=) c.320G= (p.Ser107=) c.200G= (p.Ser67=) n.378G= c.545G= (p.Ser182=) | |
11 | g.72106172G>T | CA381718207 | LRRC51,LRTOMT,TOMT | c.221G>T (p.Ser74Ile) c.438-2433G>T (n.438-2433G>T) c.*39G>T (n.*39G>T) c.320G>T (p.Ser107Ile) c.200G>T (p.Ser67Ile) n.378G>T c.545G>T (p.Ser182Ile) | gnomAD v4 |
11 | g.72106173C>A | CA381718208 | LRRC51,LRTOMT,TOMT | c.222C>A (p.Ser74Arg) c.438-2432C>A (n.438-2432C>A) c.*40C>A (n.*40C>A) c.321C>A (p.Ser107Arg) c.201C>A (p.Ser67Arg) n.379C>A c.546C>A (p.Ser182Arg) | gnomAD v4 |
11 | g.72106173C>G | CA381718210 | LRRC51,LRTOMT,TOMT | c.222C>G (p.Ser74Arg) c.438-2432C>G (n.438-2432C>G) c.*40C>G (n.*40C>G) c.321C>G (p.Ser107Arg) c.201C>G (p.Ser67Arg) n.379C>G c.546C>G (p.Ser182Arg) | |
11 | g.72106173C>T | CA475864921 | LRRC51,LRTOMT,TOMT | c.222C>T (p.Ser74=) c.438-2432C>T (n.438-2432C>T) c.*40C>T (n.*40C>T) c.321C>T (p.Ser107=) c.201C>T (p.Ser67=) n.379C>T c.546C>T (p.Ser182=) | gnomAD v4 |
11 | g.72106174C>A | CA381718213 | LRRC51,LRTOMT,TOMT | c.223C>A (p.Arg75Ser) c.438-2431C>A (n.438-2431C>A) c.*41C>A (n.*41C>A) c.322C>A (p.Arg108Ser) c.202C>A (p.Arg68Ser) n.380C>A c.547C>A (p.Arg183Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72106174C= | CA1981839944 | LRRC51,LRTOMT,TOMT | c.223C= (p.Arg75=) c.438-2431C= (n.438-2431C=) c.*41C= (n.*41C=) c.322C= (p.Arg108=) c.202C= (p.Arg68=) n.380C= c.547C= (p.Arg183=) | |
11 | g.72106174C>G | CA381718215 | LRRC51,LRTOMT,TOMT | c.223C>G (p.Arg75Gly) c.438-2431C>G (n.438-2431C>G) c.*41C>G (n.*41C>G) c.322C>G (p.Arg108Gly) c.202C>G (p.Arg68Gly) n.380C>G c.547C>G (p.Arg183Gly) | gnomAD v4 |
11 | g.72106174C>T | CA381718218 | LRRC51,LRTOMT,TOMT | c.223C>T (p.Arg75Cys) c.438-2431C>T (n.438-2431C>T) c.*41C>T (n.*41C>T) c.322C>T (p.Arg108Cys) c.202C>T (p.Arg68Cys) n.380C>T c.547C>T (p.Arg183Cys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72106175G>A | CA224374581 | LRRC51,LRTOMT,TOMT | c.224G>A (p.Arg75His) c.438-2430G>A (n.438-2430G>A) c.*42G>A (n.*42G>A) c.323G>A (p.Arg108His) c.203G>A (p.Arg68His) n.381G>A c.548G>A (p.Arg183His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72106175G>C | CA381718222 | LRRC51,LRTOMT,TOMT | c.224G>C (p.Arg75Pro) c.438-2430G>C (n.438-2430G>C) c.*42G>C (n.*42G>C) c.323G>C (p.Arg108Pro) c.203G>C (p.Arg68Pro) n.381G>C c.548G>C (p.Arg183Pro) | |
11 | g.72106175G= | CA1981839945 | LRRC51,LRTOMT,TOMT | c.224G= (p.Arg75=) c.438-2430G= (n.438-2430G=) c.*42G= (n.*42G=) c.323G= (p.Arg108=) c.203G= (p.Arg68=) n.381G= c.548G= (p.Arg183=) | |
11 | g.72106175G>T | CA381718224 | LRRC51,LRTOMT,TOMT | c.224G>T (p.Arg75Leu) c.438-2430G>T (n.438-2430G>T) c.*42G>T (n.*42G>T) c.323G>T (p.Arg108Leu) c.203G>T (p.Arg68Leu) n.381G>T c.548G>T (p.Arg183Leu) | gnomAD v4 |
11 | g.72106176C>A | CA475864922 | LRRC51,LRTOMT,TOMT | c.225C>A (p.Arg75=) c.438-2429C>A (n.438-2429C>A) c.*43C>A (n.*43C>A) c.324C>A (p.Arg108=) c.204C>A (p.Arg68=) n.382C>A c.549C>A (p.Arg183=) | |
11 | g.72106176C= | CA1981839946 | LRRC51,LRTOMT,TOMT | c.225C= (p.Arg75=) c.438-2429C= (n.438-2429C=) c.*43C= (n.*43C=) c.324C= (p.Arg108=) c.204C= (p.Arg68=) n.382C= c.549C= (p.Arg183=) | |
11 | g.72106176C>G | CA475864923 | LRRC51,LRTOMT,TOMT | c.225C>G (p.Arg75=) c.438-2429C>G (n.438-2429C>G) c.*43C>G (n.*43C>G) c.324C>G (p.Arg108=) c.204C>G (p.Arg68=) n.382C>G c.549C>G (p.Arg183=) | |
11 | g.72106176C>T | CA224374584 | LRRC51,LRTOMT,TOMT | c.225C>T (p.Arg75=) c.438-2429C>T (n.438-2429C>T) c.*43C>T (n.*43C>T) c.324C>T (p.Arg108=) c.204C>T (p.Arg68=) n.382C>T c.549C>T (p.Arg183=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72106177T>A | CA381718227 | LRRC51,LRTOMT,TOMT | c.226T>A (p.Cys76Ser) c.438-2428T>A (n.438-2428T>A) c.*44T>A (n.*44T>A) c.325T>A (p.Cys109Ser) c.205T>A (p.Cys69Ser) n.383T>A c.550T>A (p.Cys184Ser) | |
11 | g.72106177T>C | CA381718229 | LRRC51,LRTOMT,TOMT | c.226T>C (p.Cys76Arg) c.438-2428T>C (n.438-2428T>C) c.*44T>C (n.*44T>C) c.325T>C (p.Cys109Arg) c.205T>C (p.Cys69Arg) n.383T>C c.550T>C (p.Cys184Arg) | |
11 | g.72106177T>G | CA381718230 | LRRC51,LRTOMT,TOMT | c.226T>G (p.Cys76Gly) c.438-2428T>G (n.438-2428T>G) c.*44T>G (n.*44T>G) c.325T>G (p.Cys109Gly) c.205T>G (p.Cys69Gly) n.383T>G c.550T>G (p.Cys184Gly) | |
11 | g.72106178G>A | CA381718232 | LRRC51,LRTOMT,TOMT | c.227G>A (p.Cys76Tyr) c.438-2427G>A (n.438-2427G>A) c.*45G>A (n.*45G>A) c.326G>A (p.Cys109Tyr) c.206G>A (p.Cys69Tyr) n.384G>A c.551G>A (p.Cys184Tyr) | gnomAD v4 |
11 | g.72106178G>C | CA381718235 | LRRC51,LRTOMT,TOMT | c.227G>C (p.Cys76Ser) c.438-2427G>C (n.438-2427G>C) c.*45G>C (n.*45G>C) c.326G>C (p.Cys109Ser) c.206G>C (p.Cys69Ser) n.384G>C c.551G>C (p.Cys184Ser) | |
11 | g.72106178G>T | CA381718237 | LRRC51,LRTOMT,TOMT | c.227G>T (p.Cys76Phe) c.438-2427G>T (n.438-2427G>T) c.*45G>T (n.*45G>T) c.326G>T (p.Cys109Phe) c.206G>T (p.Cys69Phe) n.384G>T c.551G>T (p.Cys184Phe) | |
11 | g.72106179C>A | CA381718243 | LRRC51,LRTOMT,TOMT | c.228C>A (p.Cys76Ter) c.438-2426C>A (n.438-2426C>A) c.*46C>A (n.*46C>A) c.327C>A (p.Cys109Ter) c.207C>A (p.Cys69Ter) n.385C>A c.552C>A (p.Cys184Ter) | gnomAD v4 |
11 | g.72106179C= | CA1981839947 | LRRC51,LRTOMT,TOMT | c.228C= (p.Cys76=) c.438-2426C= (n.438-2426C=) c.*46C= (n.*46C=) c.327C= (p.Cys109=) c.207C= (p.Cys69=) n.385C= c.552C= (p.Cys184=) | |
11 | g.72106179C>G | CA381718240 | LRRC51,LRTOMT,TOMT | c.228C>G (p.Cys76Trp) c.438-2426C>G (n.438-2426C>G) c.*46C>G (n.*46C>G) c.327C>G (p.Cys109Trp) c.207C>G (p.Cys69Trp) n.385C>G c.552C>G (p.Cys184Trp) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72106179C>T | CA6168589 | LRRC51,LRTOMT,TOMT | c.228C>T (p.Cys76=) c.438-2426C>T (n.438-2426C>T) c.*46C>T (n.*46C>T) c.327C>T (p.Cys109=) c.207C>T (p.Cys69=) n.385C>T c.552C>T (p.Cys184=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.72106180G>A | CA251498 | LRRC51,LRTOMT,TOMT | c.229G>A (p.Glu77Lys) c.438-2425G>A (n.438-2425G>A) c.*47G>A (n.*47G>A) c.328G>A (p.Glu110Lys) c.208G>A (p.Glu70Lys) n.386G>A c.553G>A (p.Glu185Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72106180G>C | CA381718249 | LRRC51,LRTOMT,TOMT | c.229G>C (p.Glu77Gln) c.438-2425G>C (n.438-2425G>C) c.*47G>C (n.*47G>C) c.328G>C (p.Glu110Gln) c.208G>C (p.Glu70Gln) n.386G>C c.553G>C (p.Glu185Gln) | gnomAD v4 |
11 | g.72106180G= | CA1981839948 | LRRC51,LRTOMT,TOMT | c.229G= (p.Glu77=) c.438-2425G= (n.438-2425G=) c.*47G= (n.*47G=) c.328G= (p.Glu110=) c.208G= (p.Glu70=) n.386G= c.553G= (p.Glu185=) | |
11 | g.72106180G>T | CA381718247 | LRRC51,LRTOMT,TOMT | c.229G>T (p.Glu77Ter) c.438-2425G>T (n.438-2425G>T) c.*47G>T (n.*47G>T) c.328G>T (p.Glu110Ter) c.208G>T (p.Glu70Ter) n.386G>T c.553G>T (p.Glu185Ter) | gnomAD v4 |
11 | g.72106181A>C | CA381718252 | LRRC51,LRTOMT,TOMT | c.230A>C (p.Glu77Ala) c.438-2424A>C (n.438-2424A>C) c.*48A>C (n.*48A>C) c.329A>C (p.Glu110Ala) c.209A>C (p.Glu70Ala) n.387A>C c.554A>C (p.Glu185Ala) | |
11 | g.72106181A>G | CA381718253 | LRRC51,LRTOMT,TOMT | c.230A>G (p.Glu77Gly) c.438-2424A>G (n.438-2424A>G) c.*48A>G (n.*48A>G) c.329A>G (p.Glu110Gly) c.209A>G (p.Glu70Gly) n.387A>G c.554A>G (p.Glu185Gly) | |
11 | g.72106181A>T | CA381718256 | LRRC51,LRTOMT,TOMT | c.230A>T (p.Glu77Val) c.438-2424A>T (n.438-2424A>T) c.*48A>T (n.*48A>T) c.329A>T (p.Glu110Val) c.209A>T (p.Glu70Val) n.387A>T c.554A>T (p.Glu185Val) | |
11 | g.72106182G>A | CA475864924 | LRRC51,LRTOMT,TOMT | c.231G>A (p.Glu77=) c.438-2423G>A (n.438-2423G>A) c.*49G>A (n.*49G>A) c.330G>A (p.Glu110=) c.210G>A (p.Glu70=) n.388G>A c.555G>A (p.Glu185=) | gnomAD v4 |
11 | g.72106182G>C | CA381718257 | LRRC51,LRTOMT,TOMT | c.231G>C (p.Glu77Asp) c.438-2423G>C (n.438-2423G>C) c.*49G>C (n.*49G>C) c.330G>C (p.Glu110Asp) c.210G>C (p.Glu70Asp) n.388G>C c.555G>C (p.Glu185Asp) | |
11 | g.72106182G>T | CA381718259 | LRRC51,LRTOMT,TOMT | c.231G>T (p.Glu77Asp) c.438-2423G>T (n.438-2423G>T) c.*49G>T (n.*49G>T) c.330G>T (p.Glu110Asp) c.210G>T (p.Glu70Asp) n.388G>T c.555G>T (p.Glu185Asp) | gnomAD v4 |
11 | g.72106183T>A | CA381718261 | LRRC51,LRTOMT,TOMT | c.232T>A (p.Tyr78Asn) c.438-2422T>A (n.438-2422T>A) c.*50T>A (n.*50T>A) c.331T>A (p.Tyr111Asn) c.211T>A (p.Tyr71Asn) n.389T>A c.556T>A (p.Tyr186Asn) | |
11 | g.72106183T>C | CA381718263 | LRRC51,LRTOMT,TOMT | c.232T>C (p.Tyr78His) c.438-2422T>C (n.438-2422T>C) c.*50T>C (n.*50T>C) c.331T>C (p.Tyr111His) c.211T>C (p.Tyr71His) n.389T>C c.556T>C (p.Tyr186His) | dbSNP |
11 | g.72106183T>G | CA381718266 | LRRC51,LRTOMT,TOMT | c.232T>G (p.Tyr78Asp) c.438-2422T>G (n.438-2422T>G) c.*50T>G (n.*50T>G) c.331T>G (p.Tyr111Asp) c.211T>G (p.Tyr71Asp) n.389T>G c.556T>G (p.Tyr186Asp) | |
11 | g.72106183T= | CA1981839949 | LRRC51,LRTOMT,TOMT | c.232T= (p.Tyr78=) c.438-2422T= (n.438-2422T=) c.*50T= (n.*50T=) c.331T= (p.Tyr111=) c.211T= (p.Tyr71=) n.389T= c.556T= (p.Tyr186=) | |
11 | g.72106184A>C | CA381718268 | LRRC51,LRTOMT,TOMT | c.233A>C (p.Tyr78Ser) c.438-2421A>C (n.438-2421A>C) c.*51A>C (n.*51A>C) c.332A>C (p.Tyr111Ser) c.212A>C (p.Tyr71Ser) n.390A>C c.557A>C (p.Tyr186Ser) | |
11 | g.72106184A>G | CA381718270 | LRRC51,LRTOMT,TOMT | c.233A>G (p.Tyr78Cys) c.438-2421A>G (n.438-2421A>G) c.*51A>G (n.*51A>G) c.332A>G (p.Tyr111Cys) c.212A>G (p.Tyr71Cys) n.390A>G c.557A>G (p.Tyr186Cys) | |
11 | g.72106184A>T | CA381718272 | LRRC51,LRTOMT,TOMT | c.233A>T (p.Tyr78Phe) c.438-2421A>T (n.438-2421A>T) c.*51A>T (n.*51A>T) c.332A>T (p.Tyr111Phe) c.212A>T (p.Tyr71Phe) n.390A>T c.557A>T (p.Tyr186Phe) | |
11 | g.72106185C>A | CA381718274 | LRRC51,LRTOMT,TOMT | c.234C>A (p.Tyr78Ter) c.438-2420C>A (n.438-2420C>A) c.*52C>A (n.*52C>A) c.333C>A (p.Tyr111Ter) c.213C>A (p.Tyr71Ter) n.391C>A c.558C>A (p.Tyr186Ter) | gnomAD v4 |
11 | g.72106185C= | CA1981839950 | LRRC51,LRTOMT,TOMT | c.234C= (p.Tyr78=) c.438-2420C= (n.438-2420C=) c.*52C= (n.*52C=) c.333C= (p.Tyr111=) c.213C= (p.Tyr71=) n.391C= c.558C= (p.Tyr186=) | |
11 | g.72106185C>G | CA251500 | LRRC51,LRTOMT,TOMT | c.234C>G (p.Tyr78Ter) c.438-2420C>G (n.438-2420C>G) c.*52C>G (n.*52C>G) c.333C>G (p.Tyr111Ter) c.213C>G (p.Tyr71Ter) n.391C>G c.558C>G (p.Tyr186Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.72106185C>T | CA475864925 | LRRC51,LRTOMT,TOMT | c.234C>T (p.Tyr78=) c.438-2420C>T (n.438-2420C>T) c.*52C>T (n.*52C>T) c.333C>T (p.Tyr111=) c.213C>T (p.Tyr71=) n.391C>T c.558C>T (p.Tyr186=) | gnomAD v4 |