| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.72106065C>A | CA381717592 | LRRC51,LRTOMT,TOMT | c.114C>A (p.Asp38Glu) c.438-2540C>A (n.438-2540C>A) c.82C>A (p.Leu28Met) c.213C>A (p.Asp71Glu) c.93C>A (p.Asp31Glu) c.616C>A (p.Leu206Met) n.271C>A c.496C>A (p.Leu166Met) c.438C>A (p.Asp146Glu) | |
| 11 | g.72106065C>G | CA381717594 | LRRC51,LRTOMT,TOMT | c.114C>G (p.Asp38Glu) c.438-2540C>G (n.438-2540C>G) c.82C>G (p.Leu28Val) c.213C>G (p.Asp71Glu) c.93C>G (p.Asp31Glu) c.616C>G (p.Leu206Val) n.271C>G c.496C>G (p.Leu166Val) c.438C>G (p.Asp146Glu) | |
| 11 | g.72106065C>T | CA475864843 | LRRC51,LRTOMT,TOMT | c.114C>T (p.Asp38=) c.438-2540C>T (n.438-2540C>T) c.82C>T (p.Leu28=) c.213C>T (p.Asp71=) c.93C>T (p.Asp31=) c.616C>T (p.Leu206=) n.271C>T c.496C>T (p.Leu166=) c.438C>T (p.Asp146=) | gnomAD v4 |
| 11 | g.72106068_72106071del | CA645593695 | LRRC51,LRTOMT,TOMT | c.117_120del (p.Leu40GlnfsTer?) c.438-2537_438-2534del (n.438-2537_438-2534del) c.85_88del (p.Pro29SerfsTer?) c.216_219del (p.Leu73GlnfsTer?) c.96_99del (p.Leu33GlnfsTer?) c.619_622del (p.Pro207SerfsTer?) n.274_277del c.499_502del (p.Pro167SerfsTer?) c.441_444del (p.Leu148GlnfsTer?) | COSMIC |
| 11 | g.72106066T>A | CA381717601 | LRRC51,LRTOMT,TOMT | c.115T>A (p.Cys39Ser) c.438-2539T>A (n.438-2539T>A) c.83T>A (p.Leu28Gln) c.214T>A (p.Cys72Ser) c.94T>A (p.Cys32Ser) c.617T>A (p.Leu206Gln) n.272T>A c.497T>A (p.Leu166Gln) c.439T>A (p.Cys147Ser) | |
| 11 | g.72106066T>C | CA381717599 | LRRC51,LRTOMT,TOMT | c.115T>C (p.Cys39Arg) c.438-2539T>C (n.438-2539T>C) c.83T>C (p.Leu28Pro) c.214T>C (p.Cys72Arg) c.94T>C (p.Cys32Arg) c.617T>C (p.Leu206Pro) n.272T>C c.497T>C (p.Leu166Pro) c.439T>C (p.Cys147Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.72106066T>G | CA381717597 | LRRC51,LRTOMT,TOMT | c.115T>G (p.Cys39Gly) c.438-2539T>G (n.438-2539T>G) c.83T>G (p.Leu28Arg) c.214T>G (p.Cys72Gly) c.94T>G (p.Cys32Gly) c.617T>G (p.Leu206Arg) n.272T>G c.497T>G (p.Leu166Arg) c.439T>G (p.Cys147Gly) | |
| 11 | g.72106066T= | CA1981839896 | LRRC51,LRTOMT,TOMT | c.115T= (p.Cys39=) c.438-2539T= (n.438-2539T=) c.83T= (p.Leu28=) c.214T= (p.Cys72=) c.94T= (p.Cys32=) c.617T= (p.Leu206=) n.272T= c.497T= (p.Leu166=) c.439T= (p.Cys147=) | |
| 11 | g.72106067G>A | CA6168578 | LRRC51,LRTOMT,TOMT | c.116G>A (p.Cys39Tyr) c.438-2538G>A (n.438-2538G>A) c.84G>A (p.Leu28=) c.215G>A (p.Cys72Tyr) c.95G>A (p.Cys32Tyr) c.618G>A (p.Leu206=) n.273G>A c.498G>A (p.Leu166=) c.440G>A (p.Cys147Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72106067G>C | CA381717604 | LRRC51,LRTOMT,TOMT | c.116G>C (p.Cys39Ser) c.438-2538G>C (n.438-2538G>C) c.84G>C (p.Leu28=) c.215G>C (p.Cys72Ser) c.95G>C (p.Cys32Ser) c.618G>C (p.Leu206=) n.273G>C c.498G>C (p.Leu166=) c.440G>C (p.Cys147Ser) | |
| 11 | g.72106067G= | CA1981839897 | LRRC51,LRTOMT,TOMT | c.116G= (p.Cys39=) c.438-2538G= (n.438-2538G=) c.84G= (p.Leu28=) c.215G= (p.Cys72=) c.95G= (p.Cys32=) c.618G= (p.Leu206=) n.273G= c.498G= (p.Leu166=) c.440G= (p.Cys147=) | |
| 11 | g.72106067G>T | CA381717606 | LRRC51,LRTOMT,TOMT | c.116G>T (p.Cys39Phe) c.438-2538G>T (n.438-2538G>T) c.84G>T (p.Leu28=) c.215G>T (p.Cys72Phe) c.95G>T (p.Cys32Phe) c.618G>T (p.Leu206=) n.273G>T c.498G>T (p.Leu166=) c.440G>T (p.Cys147Phe) | dbSNP gnomAD v4 |
| 11 | g.72106068C>A | CA381717610 | LRRC51,LRTOMT,TOMT | c.117C>A (p.Cys39Ter) c.438-2537C>A (n.438-2537C>A) c.85C>A (p.Pro29Thr) c.216C>A (p.Cys72Ter) c.96C>A (p.Cys32Ter) c.619C>A (p.Pro207Thr) n.274C>A c.499C>A (p.Pro167Thr) c.441C>A (p.Cys147Ter) | |
| 11 | g.72106068C>G | CA381717611 | LRRC51,LRTOMT,TOMT | c.117C>G (p.Cys39Trp) c.438-2537C>G (n.438-2537C>G) c.85C>G (p.Pro29Ala) c.216C>G (p.Cys72Trp) c.96C>G (p.Cys32Trp) c.619C>G (p.Pro207Ala) n.274C>G c.499C>G (p.Pro167Ala) c.441C>G (p.Cys147Trp) | |
| 11 | g.72106068C>T | CA475864844 | LRRC51,LRTOMT,TOMT | c.117C>T (p.Cys39=) c.438-2537C>T (n.438-2537C>T) c.85C>T (p.Pro29Ser) c.216C>T (p.Cys72=) c.96C>T (p.Cys32=) c.619C>T (p.Pro207Ser) n.274C>T c.499C>T (p.Pro167Ser) c.441C>T (p.Cys147=) | |
| 11 | g.72106069C>A | CA381717614 | LRRC51,LRTOMT,TOMT | c.118C>A (p.Leu40Met) c.438-2536C>A (n.438-2536C>A) c.86C>A (p.Pro29His) c.217C>A (p.Leu73Met) c.97C>A (p.Leu33Met) c.620C>A (p.Pro207His) n.275C>A c.500C>A (p.Pro167His) c.442C>A (p.Leu148Met) | gnomAD v4 |
| 11 | g.72106069C>G | CA381717615 | LRRC51,LRTOMT,TOMT | c.118C>G (p.Leu40Val) c.438-2536C>G (n.438-2536C>G) c.86C>G (p.Pro29Arg) c.217C>G (p.Leu73Val) c.97C>G (p.Leu33Val) c.620C>G (p.Pro207Arg) n.275C>G c.500C>G (p.Pro167Arg) c.442C>G (p.Leu148Val) | |
| 11 | g.72106069C>T | CA475864845 | LRRC51,LRTOMT,TOMT | c.118C>T (p.Leu40=) c.438-2536C>T (n.438-2536C>T) c.86C>T (p.Pro29Leu) c.217C>T (p.Leu73=) c.97C>T (p.Leu33=) c.620C>T (p.Pro207Leu) n.275C>T c.500C>T (p.Pro167Leu) c.442C>T (p.Leu148=) | |
| 11 | g.72106070T>A | CA381717618 | LRRC51,LRTOMT,TOMT | c.119T>A (p.Leu40Gln) c.438-2535T>A (n.438-2535T>A) c.87T>A (p.Pro29=) c.218T>A (p.Leu73Gln) c.98T>A (p.Leu33Gln) c.621T>A (p.Pro207=) n.276T>A c.501T>A (p.Pro167=) c.443T>A (p.Leu148Gln) | |
| 11 | g.72106070T>C | CA381717620 | LRRC51,LRTOMT,TOMT | c.119T>C (p.Leu40Pro) c.438-2535T>C (n.438-2535T>C) c.87T>C (p.Pro29=) c.218T>C (p.Leu73Pro) c.98T>C (p.Leu33Pro) c.621T>C (p.Pro207=) n.276T>C c.501T>C (p.Pro167=) c.443T>C (p.Leu148Pro) | gnomAD v4 |
| 11 | g.72106070T>G | CA381717621 | LRRC51,LRTOMT,TOMT | c.119T>G (p.Leu40Arg) c.438-2535T>G (n.438-2535T>G) c.87T>G (p.Pro29=) c.218T>G (p.Leu73Arg) c.98T>G (p.Leu33Arg) c.621T>G (p.Pro207=) n.276T>G c.501T>G (p.Pro167=) c.443T>G (p.Leu148Arg) | |
| 11 | g.72106071G>A | CA475864846 | LRRC51,LRTOMT,TOMT | c.120G>A (p.Leu40=) c.438-2534G>A (n.438-2534G>A) c.88G>A (p.Val30Ile) c.219G>A (p.Leu73=) c.99G>A (p.Leu33=) c.622G>A (p.Val208Ile) n.277G>A c.502G>A (p.Val168Ile) c.444G>A (p.Leu148=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.72106071G>C | CA475864847 | LRRC51,LRTOMT,TOMT | c.120G>C (p.Leu40=) c.438-2534G>C (n.438-2534G>C) c.88G>C (p.Val30Leu) c.219G>C (p.Leu73=) c.99G>C (p.Leu33=) c.622G>C (p.Val208Leu) n.277G>C c.502G>C (p.Val168Leu) c.444G>C (p.Leu148=) | gnomAD v4 |
| 11 | g.72106071G= | CA1981839898 | LRRC51,LRTOMT,TOMT | c.120G= (p.Leu40=) c.438-2534G= (n.438-2534G=) c.88G= (p.Val30=) c.219G= (p.Leu73=) c.99G= (p.Leu33=) c.622G= (p.Val208=) n.277G= c.502G= (p.Val168=) c.444G= (p.Leu148=) | |
| 11 | g.72106071G>T | CA475864848 | LRRC51,LRTOMT,TOMT | c.120G>T (p.Leu40=) c.438-2534G>T (n.438-2534G>T) c.88G>T (p.Val30Phe) c.219G>T (p.Leu73=) c.99G>T (p.Leu33=) c.622G>T (p.Val208Phe) n.277G>T c.502G>T (p.Val168Phe) c.444G>T (p.Leu148=) | |
| 11 | g.72106072T>A | CA381717624 | LRRC51,LRTOMT,TOMT | c.121T>A (p.Ser41Thr) c.438-2533T>A (n.438-2533T>A) c.89T>A (p.Val30Asp) c.220T>A (p.Ser74Thr) c.100T>A (p.Ser34Thr) c.623T>A (p.Val208Asp) n.278T>A c.503T>A (p.Val168Asp) c.445T>A (p.Ser149Thr) | |
| 11 | g.72106072T>C | CA381717627 | LRRC51,LRTOMT,TOMT | c.121T>C (p.Ser41Pro) c.438-2533T>C (n.438-2533T>C) c.89T>C (p.Val30Ala) c.220T>C (p.Ser74Pro) c.100T>C (p.Ser34Pro) c.623T>C (p.Val208Ala) n.278T>C c.503T>C (p.Val168Ala) c.445T>C (p.Ser149Pro) | |
| 11 | g.72106072T>G | CA381717625 | LRRC51,LRTOMT,TOMT | c.121T>G (p.Ser41Ala) c.438-2533T>G (n.438-2533T>G) c.89T>G (p.Val30Gly) c.220T>G (p.Ser74Ala) c.100T>G (p.Ser34Ala) c.623T>G (p.Val208Gly) n.278T>G c.503T>G (p.Val168Gly) c.445T>G (p.Ser149Ala) | |
| 11 | g.72106073C>A | CA381717630 | LRRC51,LRTOMT,TOMT | c.122C>A (p.Ser41Ter) c.438-2532C>A (n.438-2532C>A) c.90C>A (p.Val30=) c.221C>A (p.Ser74Ter) c.101C>A (p.Ser34Ter) c.624C>A (p.Val208=) n.279C>A c.504C>A (p.Val168=) c.446C>A (p.Ser149Ter) | |
| 11 | g.72106073C>G | CA381717632 | LRRC51,LRTOMT,TOMT | c.122C>G (p.Ser41Ter) c.438-2532C>G (n.438-2532C>G) c.90C>G (p.Val30=) c.221C>G (p.Ser74Ter) c.101C>G (p.Ser34Ter) c.624C>G (p.Val208=) n.279C>G c.504C>G (p.Val168=) c.446C>G (p.Ser149Ter) | gnomAD v4 |
| 11 | g.72106073C>T | CA381717633 | LRRC51,LRTOMT,TOMT | c.122C>T (p.Ser41Leu) c.438-2532C>T (n.438-2532C>T) c.90C>T (p.Val30=) c.221C>T (p.Ser74Leu) c.101C>T (p.Ser34Leu) c.624C>T (p.Val208=) n.279C>T c.504C>T (p.Val168=) c.446C>T (p.Ser149Leu) | gnomAD v4 |
| 11 | g.72106074A= | CA1981839899 | LRRC51,LRTOMT,TOMT | c.123A= (p.Ser41=) c.438-2531A= (n.438-2531A=) c.91A= (p.Arg31=) c.222A= (p.Ser74=) c.102A= (p.Ser34=) c.625A= (p.Arg209=) n.280A= c.505A= (p.Arg169=) c.447A= (p.Ser149=) | |
| 11 | g.72106074A>C | CA475864850 | LRRC51,LRTOMT,TOMT | c.123A>C (p.Ser41=) c.438-2531A>C (n.438-2531A>C) c.91A>C (p.Arg31=) c.222A>C (p.Ser74=) c.102A>C (p.Ser34=) c.625A>C (p.Arg209=) n.280A>C c.505A>C (p.Arg169=) c.447A>C (p.Ser149=) | gnomAD v4 |
| 11 | g.72106074A>G | CA133442 | LRRC51,LRTOMT,TOMT | c.123A>G (p.Ser41=) c.438-2531A>G (n.438-2531A>G) c.91A>G (p.Arg31Gly) c.222A>G (p.Ser74=) c.102A>G (p.Ser34=) c.625A>G (p.Arg209Gly) n.280A>G c.505A>G (p.Arg169Gly) c.447A>G (p.Ser149=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72106074A>T | CA475864849 | LRRC51,LRTOMT,TOMT | c.123A>T (p.Ser41=) c.438-2531A>T (n.438-2531A>T) c.91A>T (p.Arg31Trp) c.222A>T (p.Ser74=) c.102A>T (p.Ser34=) c.625A>T (p.Arg209Trp) n.280A>T c.505A>T (p.Arg169Trp) c.447A>T (p.Ser149=) | |
| 11 | g.72106075G>A | CA381717640 | LRRC51,LRTOMT,TOMT | c.124G>A (p.Gly42Arg) c.438-2530G>A (n.438-2530G>A) c.92G>A (p.Arg31Lys) c.223G>A (p.Gly75Arg) c.103G>A (p.Gly35Arg) c.626G>A (p.Arg209Lys) n.281G>A c.506G>A (p.Arg169Lys) c.448G>A (p.Gly150Arg) | |
| 11 | g.72106075G>C | CA381717643 | LRRC51,LRTOMT,TOMT | c.124G>C (p.Gly42Arg) c.438-2530G>C (n.438-2530G>C) c.92G>C (p.Arg31Thr) c.223G>C (p.Gly75Arg) c.103G>C (p.Gly35Arg) c.626G>C (p.Arg209Thr) n.281G>C c.506G>C (p.Arg169Thr) c.448G>C (p.Gly150Arg) | |
| 11 | g.72106075G>T | CA381717641 | LRRC51,LRTOMT,TOMT | c.124G>T (p.Gly42Trp) c.438-2530G>T (n.438-2530G>T) c.92G>T (p.Arg31Met) c.223G>T (p.Gly75Trp) c.103G>T (p.Gly35Trp) c.626G>T (p.Arg209Met) n.281G>T c.506G>T (p.Arg169Met) c.448G>T (p.Gly150Trp) | |
| 11 | g.72106076G>A | CA381717645 | LRRC51,LRTOMT,TOMT | c.125G>A (p.Gly42Glu) c.438-2529G>A (n.438-2529G>A) c.93G>A (p.Arg31=) c.224G>A (p.Gly75Glu) c.104G>A (p.Gly35Glu) c.627G>A (p.Arg209=) n.282G>A c.507G>A (p.Arg169=) c.449G>A (p.Gly150Glu) | |
| 11 | g.72106076G>C | CA381717647 | LRRC51,LRTOMT,TOMT | c.125G>C (p.Gly42Ala) c.438-2529G>C (n.438-2529G>C) c.93G>C (p.Arg31Ser) c.224G>C (p.Gly75Ala) c.104G>C (p.Gly35Ala) c.627G>C (p.Arg209Ser) n.282G>C c.507G>C (p.Arg169Ser) c.449G>C (p.Gly150Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.72106076G= | CA1981839900 | LRRC51,LRTOMT,TOMT | c.125G= (p.Gly42=) c.438-2529G= (n.438-2529G=) c.93G= (p.Arg31=) c.224G= (p.Gly75=) c.104G= (p.Gly35=) c.627G= (p.Arg209=) n.282G= c.507G= (p.Arg169=) c.449G= (p.Gly150=) | |
| 11 | g.72106076G>T | CA381717649 | LRRC51,LRTOMT,TOMT | c.125G>T (p.Gly42Val) c.438-2529G>T (n.438-2529G>T) c.93G>T (p.Arg31Ser) c.224G>T (p.Gly75Val) c.104G>T (p.Gly35Val) c.627G>T (p.Arg209Ser) n.282G>T c.507G>T (p.Arg169Ser) c.449G>T (p.Gly150Val) | |
| 11 | g.72106077G>A | CA475864851 | LRRC51,LRTOMT,TOMT | c.126G>A (p.Gly42=) c.438-2528G>A (n.438-2528G>A) c.94G>A (p.Ala32Thr) c.225G>A (p.Gly75=) c.105G>A (p.Gly35=) c.628G>A (p.Ala210Thr) n.283G>A c.508G>A (p.Ala170Thr) c.450G>A (p.Gly150=) | |
| 11 | g.72106077G>C | CA475864852 | LRRC51,LRTOMT,TOMT | c.126G>C (p.Gly42=) c.438-2528G>C (n.438-2528G>C) c.94G>C (p.Ala32Pro) c.225G>C (p.Gly75=) c.105G>C (p.Gly35=) c.628G>C (p.Ala210Pro) n.283G>C c.508G>C (p.Ala170Pro) c.450G>C (p.Gly150=) | |
| 11 | g.72106077G>T | CA475864853 | LRRC51,LRTOMT,TOMT | c.126G>T (p.Gly42=) c.438-2528G>T (n.438-2528G>T) c.94G>T (p.Ala32Ser) c.225G>T (p.Gly75=) c.105G>T (p.Gly35=) c.628G>T (p.Ala210Ser) n.283G>T c.508G>T (p.Ala170Ser) c.450G>T (p.Gly150=) | gnomAD v4 |
| 11 | g.72106078C>A | CA381717652 | LRRC51,LRTOMT,TOMT | c.127C>A (p.Leu43Met) c.438-2527C>A (n.438-2527C>A) c.95C>A (p.Ala32Asp) c.226C>A (p.Leu76Met) c.106C>A (p.Leu36Met) c.629C>A (p.Ala210Asp) n.284C>A c.509C>A (p.Ala170Asp) c.451C>A (p.Leu151Met) | |
| 11 | g.72106078C>G | CA381717654 | LRRC51,LRTOMT,TOMT | c.127C>G (p.Leu43Val) c.438-2527C>G (n.438-2527C>G) c.95C>G (p.Ala32Gly) c.226C>G (p.Leu76Val) c.106C>G (p.Leu36Val) c.629C>G (p.Ala210Gly) n.284C>G c.509C>G (p.Ala170Gly) c.451C>G (p.Leu151Val) | |
| 11 | g.72106078C>T | CA475864854 | LRRC51,LRTOMT,TOMT | c.127C>T (p.Leu43=) c.438-2527C>T (n.438-2527C>T) c.95C>T (p.Ala32Val) c.226C>T (p.Leu76=) c.106C>T (p.Leu36=) c.629C>T (p.Ala210Val) n.284C>T c.509C>T (p.Ala170Val) c.451C>T (p.Leu151=) | |
| 11 | g.72106079T>A | CA381717655 | LRRC51,LRTOMT,TOMT | c.128T>A (p.Leu43Gln) c.438-2526T>A (n.438-2526T>A) c.96T>A (p.Ala32=) c.227T>A (p.Leu76Gln) c.107T>A (p.Leu36Gln) c.630T>A (p.Ala210=) n.285T>A c.510T>A (p.Ala170=) c.452T>A (p.Leu151Gln) | |
| 11 | g.72106079T>C | CA381717658 | LRRC51,LRTOMT,TOMT | c.128T>C (p.Leu43Pro) c.438-2526T>C (n.438-2526T>C) c.96T>C (p.Ala32=) c.227T>C (p.Leu76Pro) c.107T>C (p.Leu36Pro) c.630T>C (p.Ala210=) n.285T>C c.510T>C (p.Ala170=) c.452T>C (p.Leu151Pro) | gnomAD v4 |