| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) |