Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
11 | g.72106186T>A | CA381718280 | LRRC51,LRTOMT,TOMT | c.235T>A (p.Leu79Met) c.438-2419T>A (n.438-2419T>A) c.*53T>A (n.*53T>A) c.334T>A (p.Leu112Met) c.214T>A (p.Leu72Met) n.392T>A c.559T>A (p.Leu187Met) | |
11 | g.72106186T>C | CA475864926 | LRRC51,LRTOMT,TOMT | c.235T>C (p.Leu79=) c.438-2419T>C (n.438-2419T>C) c.*53T>C (n.*53T>C) c.334T>C (p.Leu112=) c.214T>C (p.Leu72=) n.392T>C c.559T>C (p.Leu187=) | gnomAD v4 |
11 | g.72106186T>G | CA381718282 | LRRC51,LRTOMT,TOMT | c.235T>G (p.Leu79Val) c.438-2419T>G (n.438-2419T>G) c.*53T>G (n.*53T>G) c.334T>G (p.Leu112Val) c.214T>G (p.Leu72Val) n.392T>G c.559T>G (p.Leu187Val) | gnomAD v4 |
11 | g.72106187T>A | CA381718284 | LRRC51,LRTOMT,TOMT | c.236T>A (p.Leu79Ter) c.438-2418T>A (n.438-2418T>A) c.*54T>A (n.*54T>A) c.335T>A (p.Leu112Ter) c.215T>A (p.Leu72Ter) n.393T>A c.560T>A (p.Leu187Ter) | |
11 | g.72106187T>C | CA381718285 | LRRC51,LRTOMT,TOMT | c.236T>C (p.Leu79Ser) c.438-2418T>C (n.438-2418T>C) c.*54T>C (n.*54T>C) c.335T>C (p.Leu112Ser) c.215T>C (p.Leu72Ser) n.393T>C c.560T>C (p.Leu187Ser) | gnomAD v4 |
11 | g.72106187T>G | CA381718286 | LRRC51,LRTOMT,TOMT | c.236T>G (p.Leu79Trp) c.438-2418T>G (n.438-2418T>G) c.*54T>G (n.*54T>G) c.335T>G (p.Leu112Trp) c.215T>G (p.Leu72Trp) n.393T>G c.560T>G (p.Leu187Trp) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72106187T= | CA1981839951 | LRRC51,LRTOMT,TOMT | c.236T= (p.Leu79=) c.438-2418T= (n.438-2418T=) c.*54T= (n.*54T=) c.335T= (p.Leu112=) c.215T= (p.Leu72=) n.393T= c.560T= (p.Leu187=) | |
11 | g.72106188G>A | CA475864927 | LRRC51,LRTOMT,TOMT | c.237G>A (p.Leu79=) c.438-2417G>A (n.438-2417G>A) c.*55G>A (n.*55G>A) c.336G>A (p.Leu112=) c.216G>A (p.Leu72=) n.394G>A c.561G>A (p.Leu187=) | dbSNP gnomAD v4 |
11 | g.72106188G>C | CA381718289 | LRRC51,LRTOMT,TOMT | c.237G>C (p.Leu79Phe) c.438-2417G>C (n.438-2417G>C) c.*55G>C (n.*55G>C) c.336G>C (p.Leu112Phe) c.216G>C (p.Leu72Phe) n.394G>C c.561G>C (p.Leu187Phe) | COSMIC |
11 | g.72106188G= | CA1981839952 | LRRC51,LRTOMT,TOMT | c.237G= (p.Leu79=) c.438-2417G= (n.438-2417G=) c.*55G= (n.*55G=) c.336G= (p.Leu112=) c.216G= (p.Leu72=) n.394G= c.561G= (p.Leu187=) | |
11 | g.72106188G>T | CA381718291 | LRRC51,LRTOMT,TOMT | c.237G>T (p.Leu79Phe) c.438-2417G>T (n.438-2417G>T) c.*55G>T (n.*55G>T) c.336G>T (p.Leu112Phe) c.216G>T (p.Leu72Phe) n.394G>T c.561G>T (p.Leu187Phe) | gnomAD v4 |
11 | g.72106189A>C | CA381718293 | LRRC51,LRTOMT,TOMT | c.238A>C (p.Ser80Arg) c.438-2416A>C (n.438-2416A>C) c.*56A>C (n.*56A>C) c.337A>C (p.Ser113Arg) c.217A>C (p.Ser73Arg) n.395A>C c.562A>C (p.Ser188Arg) | |
11 | g.72106189A>G | CA381718294 | LRRC51,LRTOMT,TOMT | c.238A>G (p.Ser80Gly) c.438-2416A>G (n.438-2416A>G) c.*56A>G (n.*56A>G) c.337A>G (p.Ser113Gly) c.217A>G (p.Ser73Gly) n.395A>G c.562A>G (p.Ser188Gly) | |
11 | g.72106189A>T | CA381718295 | LRRC51,LRTOMT,TOMT | c.238A>T (p.Ser80Cys) c.438-2416A>T (n.438-2416A>T) c.*56A>T (n.*56A>T) c.337A>T (p.Ser113Cys) c.217A>T (p.Ser73Cys) n.395A>T c.562A>T (p.Ser188Cys) | |
11 | g.72106190G>A | CA381718299 | LRRC51,LRTOMT,TOMT | c.239G>A (p.Ser80Asn) c.438-2415G>A (n.438-2415G>A) c.*57G>A (n.*57G>A) c.338G>A (p.Ser113Asn) c.218G>A (p.Ser73Asn) n.396G>A c.563G>A (p.Ser188Asn) | |
11 | g.72106190G>C | CA381718301 | LRRC51,LRTOMT,TOMT | c.239G>C (p.Ser80Thr) c.438-2415G>C (n.438-2415G>C) c.*57G>C (n.*57G>C) c.338G>C (p.Ser113Thr) c.218G>C (p.Ser73Thr) n.396G>C c.563G>C (p.Ser188Thr) | |
11 | g.72106190G>T | CA381718303 | LRRC51,LRTOMT,TOMT | c.239G>T (p.Ser80Ile) c.438-2415G>T (n.438-2415G>T) c.*57G>T (n.*57G>T) c.338G>T (p.Ser113Ile) c.218G>T (p.Ser73Ile) n.396G>T c.563G>T (p.Ser188Ile) | gnomAD v4 |
11 | g.72106191C>A | CA381718307 | LRRC51,LRTOMT,TOMT | c.240C>A (p.Ser80Arg) c.438-2414C>A (n.438-2414C>A) c.*58C>A (n.*58C>A) c.339C>A (p.Ser113Arg) c.219C>A (p.Ser73Arg) n.397C>A c.564C>A (p.Ser188Arg) | gnomAD v4 |
11 | g.72106191C>G | CA381718306 | LRRC51,LRTOMT,TOMT | c.240C>G (p.Ser80Arg) c.438-2414C>G (n.438-2414C>G) c.*58C>G (n.*58C>G) c.339C>G (p.Ser113Arg) c.219C>G (p.Ser73Arg) n.397C>G c.564C>G (p.Ser188Arg) | |
11 | g.72106191C>T | CA475864928 | LRRC51,LRTOMT,TOMT | c.240C>T (p.Ser80=) c.438-2414C>T (n.438-2414C>T) c.*58C>T (n.*58C>T) c.339C>T (p.Ser113=) c.219C>T (p.Ser73=) n.397C>T c.564C>T (p.Ser188=) | gnomAD v4 |
11 | g.72106192C>A | CA381718310 | LRRC51,LRTOMT,TOMT | c.241C>A (p.His81Asn) c.438-2413C>A (n.438-2413C>A) c.*59C>A (n.*59C>A) c.340C>A (p.His114Asn) c.220C>A (p.His74Asn) n.398C>A c.565C>A (p.His189Asn) | gnomAD v4 |
11 | g.72106192C= | CA1981839953 | LRRC51,LRTOMT,TOMT | c.241C= (p.His81=) c.438-2413C= (n.438-2413C=) c.*59C= (n.*59C=) c.340C= (p.His114=) c.220C= (p.His74=) n.398C= c.565C= (p.His189=) | |
11 | g.72106192C>G | CA381718312 | LRRC51,LRTOMT,TOMT | c.241C>G (p.His81Asp) c.438-2413C>G (n.438-2413C>G) c.*59C>G (n.*59C>G) c.340C>G (p.His114Asp) c.220C>G (p.His74Asp) n.398C>G c.565C>G (p.His189Asp) | |
11 | g.72106192C>T | CA6168590 | LRRC51,LRTOMT,TOMT | c.241C>T (p.His81Tyr) c.438-2413C>T (n.438-2413C>T) c.*59C>T (n.*59C>T) c.340C>T (p.His114Tyr) c.220C>T (p.His74Tyr) n.398C>T c.565C>T (p.His189Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72106193A>C | CA381718317 | LRRC51,LRTOMT,TOMT | c.242A>C (p.His81Pro) c.438-2412A>C (n.438-2412A>C) c.*60A>C (n.*60A>C) c.341A>C (p.His114Pro) c.221A>C (p.His74Pro) n.399A>C c.566A>C (p.His189Pro) | |
11 | g.72106193A>G | CA381718319 | LRRC51,LRTOMT,TOMT | c.242A>G (p.His81Arg) c.438-2412A>G (n.438-2412A>G) c.*60A>G (n.*60A>G) c.341A>G (p.His114Arg) c.221A>G (p.His74Arg) n.399A>G c.566A>G (p.His189Arg) | |
11 | g.72106193A>T | CA381718321 | LRRC51,LRTOMT,TOMT | c.242A>T (p.His81Leu) c.438-2412A>T (n.438-2412A>T) c.*60A>T (n.*60A>T) c.341A>T (p.His114Leu) c.221A>T (p.His74Leu) n.399A>T c.566A>T (p.His189Leu) | |
11 | g.72106194C>A | CA381718326 | LRRC51,LRTOMT,TOMT | c.243C>A (p.His81Gln) c.438-2411C>A (n.438-2411C>A) c.*61C>A (n.*61C>A) c.342C>A (p.His114Gln) c.222C>A (p.His74Gln) n.400C>A c.567C>A (p.His189Gln) | |
11 | g.72106194C>G | CA381718324 | LRRC51,LRTOMT,TOMT | c.243C>G (p.His81Gln) c.438-2411C>G (n.438-2411C>G) c.*61C>G (n.*61C>G) c.342C>G (p.His114Gln) c.222C>G (p.His74Gln) n.400C>G c.567C>G (p.His189Gln) | |
11 | g.72106194C>T | CA475864929 | LRRC51,LRTOMT,TOMT | c.243C>T (p.His81=) c.438-2411C>T (n.438-2411C>T) c.*61C>T (n.*61C>T) c.342C>T (p.His114=) c.222C>T (p.His74=) n.400C>T c.567C>T (p.His189=) | |
11 | g.72106195A= | CA1981839954 | LRRC51,LRTOMT,TOMT | c.244A= (p.Met82=) c.438-2410A= (n.438-2410A=) c.*62A= (n.*62A=) c.343A= (p.Met115=) c.223A= (p.Met75=) n.401A= c.568A= (p.Met190=) | |
11 | g.72106195A>C | CA381718329 | LRRC51,LRTOMT,TOMT | c.244A>C (p.Met82Leu) c.438-2410A>C (n.438-2410A>C) c.*62A>C (n.*62A>C) c.343A>C (p.Met115Leu) c.223A>C (p.Met75Leu) n.401A>C c.568A>C (p.Met190Leu) | |
11 | g.72106195A>G | CA224374596 | LRRC51,LRTOMT,TOMT | c.244A>G (p.Met82Val) c.438-2410A>G (n.438-2410A>G) c.*62A>G (n.*62A>G) c.343A>G (p.Met115Val) c.223A>G (p.Met75Val) n.401A>G c.568A>G (p.Met190Val) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72106195A>T | CA381718332 | LRRC51,LRTOMT,TOMT | c.244A>T (p.Met82Leu) c.438-2410A>T (n.438-2410A>T) c.*62A>T (n.*62A>T) c.343A>T (p.Met115Leu) c.223A>T (p.Met75Leu) n.401A>T c.568A>T (p.Met190Leu) | |
11 | g.72106196T>A | CA381718336 | LRRC51,LRTOMT,TOMT | c.245T>A (p.Met82Lys) c.438-2409T>A (n.438-2409T>A) c.*63T>A (n.*63T>A) c.344T>A (p.Met115Lys) c.224T>A (p.Met75Lys) n.402T>A c.569T>A (p.Met190Lys) | |
11 | g.72106196T>C | CA381718338 | LRRC51,LRTOMT,TOMT | c.245T>C (p.Met82Thr) c.438-2409T>C (n.438-2409T>C) c.*63T>C (n.*63T>C) c.344T>C (p.Met115Thr) c.224T>C (p.Met75Thr) n.402T>C c.569T>C (p.Met190Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72106196T>G | CA381718340 | LRRC51,LRTOMT,TOMT | c.245T>G (p.Met82Arg) c.438-2409T>G (n.438-2409T>G) c.*63T>G (n.*63T>G) c.344T>G (p.Met115Arg) c.224T>G (p.Met75Arg) n.402T>G c.569T>G (p.Met190Arg) | |
11 | g.72106196T= | CA1981839955 | LRRC51,LRTOMT,TOMT | c.245T= (p.Met82=) c.438-2409T= (n.438-2409T=) c.*63T= (n.*63T=) c.344T= (p.Met115=) c.224T= (p.Met75=) n.402T= c.569T= (p.Met190=) | |
11 | g.72106197G>A | CA224374600 | LRRC51,LRTOMT,TOMT | c.246G>A (p.Met82Ile) c.438-2408G>A (n.438-2408G>A) c.*64G>A (n.*64G>A) c.345G>A (p.Met115Ile) c.225G>A (p.Met75Ile) n.403G>A c.570G>A (p.Met190Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72106197G>C | CA381718343 | LRRC51,LRTOMT,TOMT | c.246G>C (p.Met82Ile) c.438-2408G>C (n.438-2408G>C) c.*64G>C (n.*64G>C) c.345G>C (p.Met115Ile) c.225G>C (p.Met75Ile) n.403G>C c.570G>C (p.Met190Ile) | |
11 | g.72106197G= | CA1981839956 | LRRC51,LRTOMT,TOMT | c.246G= (p.Met82=) c.438-2408G= (n.438-2408G=) c.*64G= (n.*64G=) c.345G= (p.Met115=) c.225G= (p.Met75=) n.403G= c.570G= (p.Met190=) | |
11 | g.72106197G>T | CA381718345 | LRRC51,LRTOMT,TOMT | c.246G>T (p.Met82Ile) c.438-2408G>T (n.438-2408G>T) c.*64G>T (n.*64G>T) c.345G>T (p.Met115Ile) c.225G>T (p.Met75Ile) n.403G>T c.570G>T (p.Met190Ile) | gnomAD v4 |
11 | g.72106198G>A | CA381718349 | LRRC51,LRTOMT,TOMT | c.247G>A (p.Gly83Arg) c.438-2407G>A (n.438-2407G>A) c.*65G>A (n.*65G>A) c.346G>A (p.Gly116Arg) c.226G>A (p.Gly76Arg) n.404G>A c.571G>A (p.Gly191Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72106198G>C | CA381718351 | LRRC51,LRTOMT,TOMT | c.247G>C (p.Gly83Arg) c.438-2407G>C (n.438-2407G>C) c.*65G>C (n.*65G>C) c.346G>C (p.Gly116Arg) c.226G>C (p.Gly76Arg) n.404G>C c.571G>C (p.Gly191Arg) | |
11 | g.72106198G= | CA1981839957 | LRRC51,LRTOMT,TOMT | c.247G= (p.Gly83=) c.438-2407G= (n.438-2407G=) c.*65G= (n.*65G=) c.346G= (p.Gly116=) c.226G= (p.Gly76=) n.404G= c.571G= (p.Gly191=) | |
11 | g.72106198G>T | CA381718353 | LRRC51,LRTOMT,TOMT | c.247G>T (p.Gly83Trp) c.438-2407G>T (n.438-2407G>T) c.*65G>T (n.*65G>T) c.346G>T (p.Gly116Trp) c.226G>T (p.Gly76Trp) n.404G>T c.571G>T (p.Gly191Trp) | gnomAD v4 |
11 | g.72106199G>A | CA381718357 | LRRC51,LRTOMT,TOMT | c.248G>A (p.Gly83Glu) c.438-2406G>A (n.438-2406G>A) c.*66G>A (n.*66G>A) c.347G>A (p.Gly116Glu) c.227G>A (p.Gly76Glu) n.405G>A c.572G>A (p.Gly191Glu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72106199G>C | CA381718358 | LRRC51,LRTOMT,TOMT | c.248G>C (p.Gly83Ala) c.438-2406G>C (n.438-2406G>C) c.*66G>C (n.*66G>C) c.347G>C (p.Gly116Ala) c.227G>C (p.Gly76Ala) n.405G>C c.572G>C (p.Gly191Ala) | |
11 | g.72106199G= | CA1981839958 | LRRC51,LRTOMT,TOMT | c.248G= (p.Gly83=) c.438-2406G= (n.438-2406G=) c.*66G= (n.*66G=) c.347G= (p.Gly116=) c.227G= (p.Gly76=) n.405G= c.572G= (p.Gly191=) | |
11 | g.72106199G>T | CA381718359 | LRRC51,LRTOMT,TOMT | c.248G>T (p.Gly83Val) c.438-2406G>T (n.438-2406G>T) c.*66G>T (n.*66G>T) c.347G>T (p.Gly116Val) c.227G>T (p.Gly76Val) n.405G>T c.572G>T (p.Gly191Val) | gnomAD v4 |
11 | g.72106200G>A | CA475864930 | LRRC51,LRTOMT,TOMT | c.249G>A (p.Gly83=) c.438-2405G>A (n.438-2405G>A) c.*67G>A (n.*67G>A) c.348G>A (p.Gly116=) c.228G>A (p.Gly76=) n.406G>A c.573G>A (p.Gly191=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72106200G>C | CA475864931 | LRRC51,LRTOMT,TOMT | c.249G>C (p.Gly83=) c.438-2405G>C (n.438-2405G>C) c.*67G>C (n.*67G>C) c.348G>C (p.Gly116=) c.228G>C (p.Gly76=) n.406G>C c.573G>C (p.Gly191=) | |
11 | g.72106200G= | CA1981839959 | LRRC51,LRTOMT,TOMT | c.249G= (p.Gly83=) c.438-2405G= (n.438-2405G=) c.*67G= (n.*67G=) c.348G= (p.Gly116=) c.228G= (p.Gly76=) n.406G= c.573G= (p.Gly191=) | |
11 | g.72106200G>T | CA475864932 | LRRC51,LRTOMT,TOMT | c.249G>T (p.Gly83=) c.438-2405G>T (n.438-2405G>T) c.*67G>T (n.*67G>T) c.348G>T (p.Gly116=) c.228G>T (p.Gly76=) n.406G>T c.573G>T (p.Gly191=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72106201C>A | CA381718360 | LRRC51,LRTOMT,TOMT | c.250C>A (p.Pro84Thr) c.438-2404C>A (n.438-2404C>A) c.*68C>A (n.*68C>A) c.349C>A (p.Pro117Thr) c.229C>A (p.Pro77Thr) n.407C>A c.574C>A (p.Pro192Thr) | gnomAD v4 |
11 | g.72106201C= | CA1981839960 | LRRC51,LRTOMT,TOMT | c.250C= (p.Pro84=) c.438-2404C= (n.438-2404C=) c.*68C= (n.*68C=) c.349C= (p.Pro117=) c.229C= (p.Pro77=) n.407C= c.574C= (p.Pro192=) | |
11 | g.72106201C>G | CA381718361 | LRRC51,LRTOMT,TOMT | c.250C>G (p.Pro84Ala) c.438-2404C>G (n.438-2404C>G) c.*68C>G (n.*68C>G) c.349C>G (p.Pro117Ala) c.229C>G (p.Pro77Ala) n.407C>G c.574C>G (p.Pro192Ala) | |
11 | g.72106201C>T | CA381718362 | LRRC51,LRTOMT,TOMT | c.250C>T (p.Pro84Ser) c.438-2404C>T (n.438-2404C>T) c.*68C>T (n.*68C>T) c.349C>T (p.Pro117Ser) c.229C>T (p.Pro77Ser) n.407C>T c.574C>T (p.Pro192Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72106202C>A | CA381718363 | LRRC51,LRTOMT,TOMT | c.251C>A (p.Pro84His) c.438-2403C>A (n.438-2403C>A) c.*69C>A (n.*69C>A) c.350C>A (p.Pro117His) c.230C>A (p.Pro77His) n.408C>A c.575C>A (p.Pro192His) | gnomAD v4 |
11 | g.72106202C= | CA1981839961 | LRRC51,LRTOMT,TOMT | c.251C= (p.Pro84=) c.438-2403C= (n.438-2403C=) c.*69C= (n.*69C=) c.350C= (p.Pro117=) c.230C= (p.Pro77=) n.408C= c.575C= (p.Pro192=) | |
11 | g.72106202C>G | CA381718364 | LRRC51,LRTOMT,TOMT | c.251C>G (p.Pro84Arg) c.438-2403C>G (n.438-2403C>G) c.*69C>G (n.*69C>G) c.350C>G (p.Pro117Arg) c.230C>G (p.Pro77Arg) n.408C>G c.575C>G (p.Pro192Arg) | |
11 | g.72106202C>T | CA381718365 | LRRC51,LRTOMT,TOMT | c.251C>T (p.Pro84Leu) c.438-2403C>T (n.438-2403C>T) c.*69C>T (n.*69C>T) c.350C>T (p.Pro117Leu) c.230C>T (p.Pro77Leu) n.408C>T c.575C>T (p.Pro192Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72106203T>A | CA475864933 | LRRC51,LRTOMT,TOMT | c.252T>A (p.Pro84=) c.438-2402T>A (n.438-2402T>A) c.*70T>A (n.*70T>A) c.351T>A (p.Pro117=) c.231T>A (p.Pro77=) n.409T>A c.576T>A (p.Pro192=) | |
11 | g.72106203T>C | CA475864934 | LRRC51,LRTOMT,TOMT | c.252T>C (p.Pro84=) c.438-2402T>C (n.438-2402T>C) c.*70T>C (n.*70T>C) c.351T>C (p.Pro117=) c.231T>C (p.Pro77=) n.409T>C c.576T>C (p.Pro192=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72106203T>G | CA475864935 | LRRC51,LRTOMT,TOMT | c.252T>G (p.Pro84=) c.438-2402T>G (n.438-2402T>G) c.*70T>G (n.*70T>G) c.351T>G (p.Pro117=) c.231T>G (p.Pro77=) n.409T>G c.576T>G (p.Pro192=) | |
11 | g.72106203T= | CA1981839962 | LRRC51,LRTOMT,TOMT | c.252T= (p.Pro84=) c.438-2402T= (n.438-2402T=) c.*70T= (n.*70T=) c.351T= (p.Pro117=) c.231T= (p.Pro77=) n.409T= c.576T= (p.Pro192=) | |
11 | g.72106204G>A | CA133444 | LRRC51,LRTOMT,TOMT | c.253G>A (p.Val85Ile) c.438-2401G>A (n.438-2401G>A) c.*71G>A (n.*71G>A) c.352G>A (p.Val118Ile) c.232G>A (p.Val78Ile) n.410G>A c.577G>A (p.Val193Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72106204G>C | CA381718367 | LRRC51,LRTOMT,TOMT | c.253G>C (p.Val85Leu) c.438-2401G>C (n.438-2401G>C) c.*71G>C (n.*71G>C) c.352G>C (p.Val118Leu) c.232G>C (p.Val78Leu) n.410G>C c.577G>C (p.Val193Leu) | |
11 | g.72106204G= | CA1981839963 | LRRC51,LRTOMT,TOMT | c.253G= (p.Val85=) c.438-2401G= (n.438-2401G=) c.*71G= (n.*71G=) c.352G= (p.Val118=) c.232G= (p.Val78=) n.410G= c.577G= (p.Val193=) | |
11 | g.72106204G>T | CA381718366 | LRRC51,LRTOMT,TOMT | c.253G>T (p.Val85Phe) c.438-2401G>T (n.438-2401G>T) c.*71G>T (n.*71G>T) c.352G>T (p.Val118Phe) c.232G>T (p.Val78Phe) n.410G>T c.577G>T (p.Val193Phe) | gnomAD v4 |
11 | g.72106205T>A | CA381718368 | LRRC51,LRTOMT,TOMT | c.254T>A (p.Val85Asp) c.438-2400T>A (n.438-2400T>A) c.*72T>A (n.*72T>A) c.353T>A (p.Val118Asp) c.233T>A (p.Val78Asp) n.411T>A c.578T>A (p.Val193Asp) | |
11 | g.72106205T>C | CA381718370 | LRRC51,LRTOMT,TOMT | c.254T>C (p.Val85Ala) c.438-2400T>C (n.438-2400T>C) c.*72T>C (n.*72T>C) c.353T>C (p.Val118Ala) c.233T>C (p.Val78Ala) n.411T>C c.578T>C (p.Val193Ala) | |
11 | g.72106205T>G | CA381718369 | LRRC51,LRTOMT,TOMT | c.254T>G (p.Val85Gly) c.438-2400T>G (n.438-2400T>G) c.*72T>G (n.*72T>G) c.353T>G (p.Val118Gly) c.233T>G (p.Val78Gly) n.411T>G c.578T>G (p.Val193Gly) | gnomAD v4 |
11 | g.72106206C>A | CA475864936 | LRRC51,LRTOMT,TOMT | c.255C>A (p.Val85=) c.438-2399C>A (n.438-2399C>A) c.*73C>A (n.*73C>A) c.354C>A (p.Val118=) c.234C>A (p.Val78=) n.412C>A c.579C>A (p.Val193=) | |
11 | g.72106206C>G | CA475864937 | LRRC51,LRTOMT,TOMT | c.255C>G (p.Val85=) c.438-2399C>G (n.438-2399C>G) c.*73C>G (n.*73C>G) c.354C>G (p.Val118=) c.234C>G (p.Val78=) n.412C>G c.579C>G (p.Val193=) | |
11 | g.72106206C>T | CA475864938 | LRRC51,LRTOMT,TOMT | c.255C>T (p.Val85=) c.438-2399C>T (n.438-2399C>T) c.*73C>T (n.*73C>T) c.354C>T (p.Val118=) c.234C>T (p.Val78=) n.412C>T c.579C>T (p.Val193=) | gnomAD v4 |
11 | g.72106207A>C | CA381718373 | LRRC51,LRTOMT,TOMT | c.256A>C (p.Lys86Gln) c.438-2398A>C (n.438-2398A>C) c.*74A>C (n.*74A>C) c.355A>C (p.Lys119Gln) c.235A>C (p.Lys79Gln) n.413A>C c.580A>C (p.Lys194Gln) | |
11 | g.72106207A>G | CA381718377 | LRRC51,LRTOMT,TOMT | c.256A>G (p.Lys86Glu) c.438-2398A>G (n.438-2398A>G) c.*74A>G (n.*74A>G) c.355A>G (p.Lys119Glu) c.235A>G (p.Lys79Glu) n.413A>G c.580A>G (p.Lys194Glu) | |
11 | g.72106207A>T | CA381718375 | LRRC51,LRTOMT,TOMT | c.256A>T (p.Lys86Ter) c.438-2398A>T (n.438-2398A>T) c.*74A>T (n.*74A>T) c.355A>T (p.Lys119Ter) c.235A>T (p.Lys79Ter) n.413A>T c.580A>T (p.Lys194Ter) | |
11 | g.72106208A>C | CA381718380 | LRRC51,LRTOMT,TOMT | c.257A>C (p.Lys86Thr) c.438-2397A>C (n.438-2397A>C) c.*75A>C (n.*75A>C) c.356A>C (p.Lys119Thr) c.236A>C (p.Lys79Thr) n.414A>C c.581A>C (p.Lys194Thr) | |
11 | g.72106208A>G | CA381718382 | LRRC51,LRTOMT,TOMT | c.257A>G (p.Lys86Arg) c.438-2397A>G (n.438-2397A>G) c.*75A>G (n.*75A>G) c.356A>G (p.Lys119Arg) c.236A>G (p.Lys79Arg) n.414A>G c.581A>G (p.Lys194Arg) | gnomAD v4 |
11 | g.72106208A>T | CA381718385 | LRRC51,LRTOMT,TOMT | c.257A>T (p.Lys86Ile) c.438-2397A>T (n.438-2397A>T) c.*75A>T (n.*75A>T) c.356A>T (p.Lys119Ile) c.236A>T (p.Lys79Ile) n.414A>T c.581A>T (p.Lys194Ile) | |
11 | g.72106209A>C | CA381718387 | LRRC51,LRTOMT,TOMT | c.258A>C (p.Lys86Asn) c.438-2396A>C (n.438-2396A>C) c.*76A>C (n.*76A>C) c.357A>C (p.Lys119Asn) c.237A>C (p.Lys79Asn) n.415A>C c.582A>C (p.Lys194Asn) | |
11 | g.72106209A>G | CA475864939 | LRRC51,LRTOMT,TOMT | c.258A>G (p.Lys86=) c.438-2396A>G (n.438-2396A>G) c.*76A>G (n.*76A>G) c.357A>G (p.Lys119=) c.237A>G (p.Lys79=) n.415A>G c.582A>G (p.Lys194=) | |
11 | g.72106209A>T | CA381718389 | LRRC51,LRTOMT,TOMT | c.258A>T (p.Lys86Asn) c.438-2396A>T (n.438-2396A>T) c.*76A>T (n.*76A>T) c.357A>T (p.Lys119Asn) c.237A>T (p.Lys79Asn) n.415A>T c.582A>T (p.Lys194Asn) | |
11 | g.72106210G>A | CA381718391 | LRRC51,LRTOMT,TOMT | c.259G>A (p.Gly87Ser) c.438-2395G>A (n.438-2395G>A) c.*77G>A (n.*77G>A) c.358G>A (p.Gly120Ser) c.238G>A (p.Gly80Ser) n.416G>A c.583G>A (p.Gly195Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72106210G>C | CA381718392 | LRRC51,LRTOMT,TOMT | c.259G>C (p.Gly87Arg) c.438-2395G>C (n.438-2395G>C) c.*77G>C (n.*77G>C) c.358G>C (p.Gly120Arg) c.238G>C (p.Gly80Arg) n.416G>C c.583G>C (p.Gly195Arg) | |
11 | g.72106210G= | CA1981839964 | LRRC51,LRTOMT,TOMT | c.259G= (p.Gly87=) c.438-2395G= (n.438-2395G=) c.*77G= (n.*77G=) c.358G= (p.Gly120=) c.238G= (p.Gly80=) n.416G= c.583G= (p.Gly195=) | |
11 | g.72106210G>T | CA381718393 | LRRC51,LRTOMT,TOMT | c.259G>T (p.Gly87Cys) c.438-2395G>T (n.438-2395G>T) c.*77G>T (n.*77G>T) c.358G>T (p.Gly120Cys) c.238G>T (p.Gly80Cys) n.416G>T c.583G>T (p.Gly195Cys) | gnomAD v4 |
11 | g.72106211G>A | CA381718396 | LRRC51,LRTOMT,TOMT | c.259+1G>A (n.259+1G>A) c.438-2394G>A (n.438-2394G>A) c.*77+1G>A (n.*77+1G>A) c.358+1G>A (n.358+1G>A) c.238+1G>A (n.238+1G>A) n.416+1G>A c.583+1G>A (n.583+1G>A) | ClinVar dbSNP |
11 | g.72106211G>C | CA381718398 | LRRC51,LRTOMT,TOMT | c.259+1G>C (n.259+1G>C) c.438-2394G>C (n.438-2394G>C) c.*77+1G>C (n.*77+1G>C) c.358+1G>C (n.358+1G>C) c.238+1G>C (n.238+1G>C) n.416+1G>C c.583+1G>C (n.583+1G>C) | gnomAD v4 |
11 | g.72106211G= | CA1981839965 | LRRC51,LRTOMT,TOMT | c.259+1G= (n.259+1G=) c.438-2394G= (n.438-2394G=) c.*77+1G= (n.*77+1G=) c.358+1G= (n.358+1G=) c.238+1G= (n.238+1G=) n.416+1G= c.583+1G= (n.583+1G=) | |
11 | g.72106211G>T | CA381718400 | LRRC51,LRTOMT,TOMT | c.259+1G>T (n.259+1G>T) c.438-2394G>T (n.438-2394G>T) c.*77+1G>T (n.*77+1G>T) c.358+1G>T (n.358+1G>T) c.238+1G>T (n.238+1G>T) n.416+1G>T c.583+1G>T (n.583+1G>T) | dbSNP gnomAD v4 |
11 | g.72106212T>A | CA381718409 | LRRC51,LRTOMT,TOMT | c.259+2T>A (n.259+2T>A) c.438-2393T>A (n.438-2393T>A) c.*77+2T>A (n.*77+2T>A) c.358+2T>A (n.358+2T>A) c.238+2T>A (n.238+2T>A) n.416+2T>A c.583+2T>A (n.583+2T>A) | |
11 | g.72106212T>C | CA381718406 | LRRC51,LRTOMT,TOMT | c.259+2T>C (n.259+2T>C) c.438-2393T>C (n.438-2393T>C) c.*77+2T>C (n.*77+2T>C) c.358+2T>C (n.358+2T>C) c.238+2T>C (n.238+2T>C) n.416+2T>C c.583+2T>C (n.583+2T>C) | |
11 | g.72106212T>G | CA381718404 | LRRC51,LRTOMT,TOMT | c.259+2T>G (n.259+2T>G) c.438-2393T>G (n.438-2393T>G) c.*77+2T>G (n.*77+2T>G) c.358+2T>G (n.358+2T>G) c.238+2T>G (n.238+2T>G) n.416+2T>G c.583+2T>G (n.583+2T>G) | |
11 | g.72106213C>A | CA2614917799 | LRRC51,LRTOMT,TOMT | c.259+3C>A (n.259+3C>A) c.438-2392C>A (n.438-2392C>A) c.*77+3C>A (n.*77+3C>A) c.358+3C>A (n.358+3C>A) c.238+3C>A (n.238+3C>A) n.416+3C>A c.583+3C>A (n.583+3C>A) | gnomAD v4 |
11 | g.72106214A= | CA1981839966 | LRRC51,LRTOMT,TOMT | c.259+4A= (n.259+4A=) c.438-2391A= (n.438-2391A=) c.*77+4A= (n.*77+4A=) c.358+4A= (n.358+4A=) c.238+4A= (n.238+4A=) n.416+4A= c.583+4A= (n.583+4A=) | |
11 | g.72106214A>C | CA273655 | LRRC51,LRTOMT,TOMT | c.259+4A>C (n.259+4A>C) c.438-2391A>C (n.438-2391A>C) c.*77+4A>C (n.*77+4A>C) c.358+4A>C (n.358+4A>C) c.238+4A>C (n.238+4A>C) n.416+4A>C c.583+4A>C (n.583+4A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72106214A>G | CA2614917804 | LRRC51,LRTOMT,TOMT | c.259+4A>G (n.259+4A>G) c.438-2391A>G (n.438-2391A>G) c.*77+4A>G (n.*77+4A>G) c.358+4A>G (n.358+4A>G) c.238+4A>G (n.238+4A>G) n.416+4A>G c.583+4A>G (n.583+4A>G) | gnomAD v4 |
11 | g.72106215G>A | CA2614917805 | LRRC51,LRTOMT,TOMT | c.259+5G>A (n.259+5G>A) c.438-2390G>A (n.438-2390G>A) c.*77+5G>A (n.*77+5G>A) c.358+5G>A (n.358+5G>A) c.238+5G>A (n.238+5G>A) n.416+5G>A c.583+5G>A (n.583+5G>A) | gnomAD v4 |
11 | g.72106215G>C | CA2513626747 | LRRC51,LRTOMT,TOMT | c.259+5G>C (n.259+5G>C) c.438-2390G>C (n.438-2390G>C) c.*77+5G>C (n.*77+5G>C) c.358+5G>C (n.358+5G>C) c.238+5G>C (n.238+5G>C) n.416+5G>C c.583+5G>C (n.583+5G>C) | gnomAD v4 |
11 | g.72106215G>T | CA2614917806 | LRRC51,LRTOMT,TOMT | c.259+5G>T (n.259+5G>T) c.438-2390G>T (n.438-2390G>T) c.*77+5G>T (n.*77+5G>T) c.358+5G>T (n.358+5G>T) c.238+5G>T (n.238+5G>T) n.416+5G>T c.583+5G>T (n.583+5G>T) | gnomAD v4 |
11 | g.72106216T>C | CA2614917808 | LRRC51,LRTOMT,TOMT | c.259+6T>C (n.259+6T>C) c.438-2389T>C (n.438-2389T>C) c.*77+6T>C (n.*77+6T>C) c.358+6T>C (n.358+6T>C) c.238+6T>C (n.238+6T>C) n.416+6T>C c.583+6T>C (n.583+6T>C) | gnomAD v4 |
11 | g.72106217G>T | CA2614917812 | LRRC51,LRTOMT,TOMT | c.259+7G>T (n.259+7G>T) c.438-2388G>T (n.438-2388G>T) c.*77+7G>T (n.*77+7G>T) c.358+7G>T (n.358+7G>T) c.238+7G>T (n.238+7G>T) n.416+7G>T c.583+7G>T (n.583+7G>T) | gnomAD v4 |
11 | g.72106217dup | CA2614917810 | LRRC51,LRTOMT,TOMT | c.259+7dup (n.259+7dup) c.438-2388dup (n.438-2388dup) c.*77+7dup (n.*77+7dup) c.358+7dup (n.358+7dup) c.238+7dup (n.238+7dup) n.416+7dup c.583+7dup (n.583+7dup) | gnomAD v4 |
11 | g.72106219T>C | CA2840339059 | LRRC51,LRTOMT,TOMT | c.259+9T>C (n.259+9T>C) c.438-2386T>C (n.438-2386T>C) c.*77+9T>C (n.*77+9T>C) c.358+9T>C (n.358+9T>C) c.238+9T>C (n.238+9T>C) n.416+9T>C c.583+9T>C (n.583+9T>C) | |
11 | g.72106220C>A | CA224374611 | LRRC51,LRTOMT,TOMT | c.259+10C>A (n.259+10C>A) c.438-2385C>A (n.438-2385C>A) c.*77+10C>A (n.*77+10C>A) c.358+10C>A (n.358+10C>A) c.238+10C>A (n.238+10C>A) n.416+10C>A c.583+10C>A (n.583+10C>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72106220C= | CA1981839967 | LRRC51,LRTOMT,TOMT | c.259+10C= (n.259+10C=) c.438-2385C= (n.438-2385C=) c.*77+10C= (n.*77+10C=) c.358+10C= (n.358+10C=) c.238+10C= (n.238+10C=) n.416+10C= c.583+10C= (n.583+10C=) | |
11 | g.72106220C>G | CA600075423 | LRRC51,LRTOMT,TOMT | c.259+10C>G (n.259+10C>G) c.438-2385C>G (n.438-2385C>G) c.*77+10C>G (n.*77+10C>G) c.358+10C>G (n.358+10C>G) c.238+10C>G (n.238+10C>G) n.416+10C>G c.583+10C>G (n.583+10C>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72106220C>T | CA679968418 | LRRC51,LRTOMT,TOMT | c.259+10C>T (n.259+10C>T) c.438-2385C>T (n.438-2385C>T) c.*77+10C>T (n.*77+10C>T) c.358+10C>T (n.358+10C>T) c.238+10C>T (n.238+10C>T) n.416+10C>T c.583+10C>T (n.583+10C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72106221C>A | CA2614917816 | LRRC51,LRTOMT,TOMT | c.259+11C>A (n.259+11C>A) c.438-2384C>A (n.438-2384C>A) c.*77+11C>A (n.*77+11C>A) c.358+11C>A (n.358+11C>A) c.238+11C>A (n.238+11C>A) n.416+11C>A c.583+11C>A (n.583+11C>A) | gnomAD v4 |
11 | g.72106221C>T | CA2792640854 | LRRC51,LRTOMT,TOMT | c.259+11C>T (n.259+11C>T) c.438-2384C>T (n.438-2384C>T) c.*77+11C>T (n.*77+11C>T) c.358+11C>T (n.358+11C>T) c.238+11C>T (n.238+11C>T) n.416+11C>T c.583+11C>T (n.583+11C>T) | |
11 | g.72106222C>A | CA2614917819 | LRRC51,LRTOMT,TOMT | c.259+12C>A (n.259+12C>A) c.438-2383C>A (n.438-2383C>A) c.*77+12C>A (n.*77+12C>A) c.358+12C>A (n.358+12C>A) c.238+12C>A (n.238+12C>A) n.416+12C>A c.583+12C>A (n.583+12C>A) | gnomAD v4 |
11 | g.72106222C>T | CA2574912017 | LRRC51,LRTOMT,TOMT | c.259+12C>T (n.259+12C>T) c.438-2383C>T (n.438-2383C>T) c.*77+12C>T (n.*77+12C>T) c.358+12C>T (n.358+12C>T) c.238+12C>T (n.238+12C>T) n.416+12C>T c.583+12C>T (n.583+12C>T) | |
11 | g.72106223T>C | CA224374614 | LRRC51,LRTOMT,TOMT | c.259+13T>C (n.259+13T>C) c.438-2382T>C (n.438-2382T>C) c.*77+13T>C (n.*77+13T>C) c.358+13T>C (n.358+13T>C) c.238+13T>C (n.238+13T>C) n.416+13T>C c.583+13T>C (n.583+13T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72106223T= | CA1981839968 | LRRC51,LRTOMT,TOMT | c.259+13T= (n.259+13T=) c.438-2382T= (n.438-2382T=) c.*77+13T= (n.*77+13T=) c.358+13T= (n.358+13T=) c.238+13T= (n.238+13T=) n.416+13T= c.583+13T= (n.583+13T=) | |
11 | g.72106225G>A | CA2614917822 | LRRC51,LRTOMT,TOMT | c.259+15G>A (n.259+15G>A) c.438-2380G>A (n.438-2380G>A) c.*77+15G>A (n.*77+15G>A) c.358+15G>A (n.358+15G>A) c.238+15G>A (n.238+15G>A) n.416+15G>A c.583+15G>A (n.583+15G>A) | gnomAD v4 |
11 | g.72106225G>C | CA2614917824 | LRRC51,LRTOMT,TOMT | c.259+15G>C (n.259+15G>C) c.438-2380G>C (n.438-2380G>C) c.*77+15G>C (n.*77+15G>C) c.358+15G>C (n.358+15G>C) c.238+15G>C (n.238+15G>C) n.416+15G>C c.583+15G>C (n.583+15G>C) | gnomAD v4 |
11 | g.72106225G>T | CA2614917823 | LRRC51,LRTOMT,TOMT | c.259+15G>T (n.259+15G>T) c.438-2380G>T (n.438-2380G>T) c.*77+15G>T (n.*77+15G>T) c.358+15G>T (n.358+15G>T) c.238+15G>T (n.238+15G>T) n.416+15G>T c.583+15G>T (n.583+15G>T) | gnomAD v4 |
11 | g.72106226C>A | CA600075426 | LRRC51,LRTOMT,TOMT | c.259+16C>A (n.259+16C>A) c.438-2379C>A (n.438-2379C>A) c.*77+16C>A (n.*77+16C>A) c.358+16C>A (n.358+16C>A) c.238+16C>A (n.238+16C>A) n.416+16C>A c.583+16C>A (n.583+16C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72106226C= | CA1981839969 | LRRC51,LRTOMT,TOMT | c.259+16C= (n.259+16C=) c.438-2379C= (n.438-2379C=) c.*77+16C= (n.*77+16C=) c.358+16C= (n.358+16C=) c.238+16C= (n.238+16C=) n.416+16C= c.583+16C= (n.583+16C=) | |
11 | g.72106226C>T | CA600075429 | LRRC51,LRTOMT,TOMT | c.259+16C>T (n.259+16C>T) c.438-2379C>T (n.438-2379C>T) c.*77+16C>T (n.*77+16C>T) c.358+16C>T (n.358+16C>T) c.238+16C>T (n.238+16C>T) n.416+16C>T c.583+16C>T (n.583+16C>T) | dbSNP gnomAD v2 |
11 | g.72106228T>A | CA2614917827 | LRRC51,LRTOMT,TOMT | c.259+18T>A (n.259+18T>A) c.438-2377T>A (n.438-2377T>A) c.*77+18T>A (n.*77+18T>A) c.358+18T>A (n.358+18T>A) c.238+18T>A (n.238+18T>A) n.416+18T>A c.583+18T>A (n.583+18T>A) | gnomAD v4 |
11 | g.72106228T>G | CA2563863780 | LRRC51,LRTOMT,TOMT | c.259+18T>G (n.259+18T>G) c.438-2377T>G (n.438-2377T>G) c.*77+18T>G (n.*77+18T>G) c.358+18T>G (n.358+18T>G) c.238+18T>G (n.238+18T>G) n.416+18T>G c.583+18T>G (n.583+18T>G) | gnomAD v4 |
11 | g.72106230C>A | CA2574912019 | LRRC51,LRTOMT,TOMT | c.259+20C>A (n.259+20C>A) c.438-2375C>A (n.438-2375C>A) c.*77+20C>A (n.*77+20C>A) c.358+20C>A (n.358+20C>A) c.238+20C>A (n.238+20C>A) n.416+20C>A c.583+20C>A (n.583+20C>A) | gnomAD v4 |
11 | g.72106230C= | CA1981839970 | LRRC51,LRTOMT,TOMT | c.259+20C= (n.259+20C=) c.438-2375C= (n.438-2375C=) c.*77+20C= (n.*77+20C=) c.358+20C= (n.358+20C=) c.238+20C= (n.238+20C=) n.416+20C= c.583+20C= (n.583+20C=) | |
11 | g.72106230C>T | CA939434627 | LRRC51,LRTOMT,TOMT | c.259+20C>T (n.259+20C>T) c.438-2375C>T (n.438-2375C>T) c.*77+20C>T (n.*77+20C>T) c.358+20C>T (n.358+20C>T) c.238+20C>T (n.238+20C>T) n.416+20C>T c.583+20C>T (n.583+20C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72106232G>T | CA2614917828 | LRRC51,LRTOMT,TOMT | c.259+22G>T (n.259+22G>T) c.438-2373G>T (n.438-2373G>T) c.*77+22G>T (n.*77+22G>T) c.358+22G>T (n.358+22G>T) c.238+22G>T (n.238+22G>T) n.416+22G>T c.583+22G>T (n.583+22G>T) | gnomAD v4 |
11 | g.72106233C>A | CA2614917830 | LRRC51,LRTOMT,TOMT | c.259+23C>A (n.259+23C>A) c.438-2372C>A (n.438-2372C>A) c.*77+23C>A (n.*77+23C>A) c.358+23C>A (n.358+23C>A) c.238+23C>A (n.238+23C>A) n.416+23C>A c.583+23C>A (n.583+23C>A) | gnomAD v4 |
11 | g.72106233C>T | CA2614917831 | LRRC51,LRTOMT,TOMT | c.259+23C>T (n.259+23C>T) c.438-2372C>T (n.438-2372C>T) c.*77+23C>T (n.*77+23C>T) c.358+23C>T (n.358+23C>T) c.238+23C>T (n.238+23C>T) n.416+23C>T c.583+23C>T (n.583+23C>T) | gnomAD v4 |
11 | g.72106235C>A | CA2614917832 | LRRC51,LRTOMT,TOMT | c.259+25C>A (n.259+25C>A) c.438-2370C>A (n.438-2370C>A) c.*77+25C>A (n.*77+25C>A) c.358+25C>A (n.358+25C>A) c.238+25C>A (n.238+25C>A) n.416+25C>A c.583+25C>A (n.583+25C>A) | gnomAD v4 |
11 | g.72106236C>A | CA2614917833 | LRRC51,LRTOMT,TOMT | c.259+26C>A (n.259+26C>A) c.438-2369C>A (n.438-2369C>A) c.*77+26C>A (n.*77+26C>A) c.358+26C>A (n.358+26C>A) c.238+26C>A (n.238+26C>A) n.416+26C>A c.583+26C>A (n.583+26C>A) | gnomAD v4 |
11 | g.72106236C= | CA1981839971 | LRRC51,LRTOMT,TOMT | c.259+26C= (n.259+26C=) c.438-2369C= (n.438-2369C=) c.*77+26C= (n.*77+26C=) c.358+26C= (n.358+26C=) c.238+26C= (n.238+26C=) n.416+26C= c.583+26C= (n.583+26C=) | |
11 | g.72106236C>T | CA6168591 | LRRC51,LRTOMT,TOMT | c.259+26C>T (n.259+26C>T) c.438-2369C>T (n.438-2369C>T) c.*77+26C>T (n.*77+26C>T) c.358+26C>T (n.358+26C>T) c.238+26C>T (n.238+26C>T) n.416+26C>T c.583+26C>T (n.583+26C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |