| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.75309980A= | CA2102689248 | TBC1D4 | c.2555T= (p.Leu852=) c.1823T= (p.Leu608=) c.2366T= (p.Leu789=) c.2531T= (p.Leu844=) n.414T= c.2480T= (p.Leu827=) c.2012T= (p.Leu671=) c.2081T= (p.Leu694=) c.2444T= (p.Leu815=) c.1712T= (p.Leu571=) c.122T= (p.Leu41=) | |
| 13 | g.75309980A>C | CA7003680 | TBC1D4 | c.2555T>G (p.Leu852Trp) c.1823T>G (p.Leu608Trp) c.2366T>G (p.Leu789Trp) c.2531T>G (p.Leu844Trp) n.414T>G c.2480T>G (p.Leu827Trp) c.2012T>G (p.Leu671Trp) c.2081T>G (p.Leu694Trp) c.2444T>G (p.Leu815Trp) c.1712T>G (p.Leu571Trp) c.122T>G (p.Leu41Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.75309980A>G | CA388272217 | TBC1D4 | c.2555T>C (p.Leu852Ser) c.1823T>C (p.Leu608Ser) c.2366T>C (p.Leu789Ser) c.2531T>C (p.Leu844Ser) n.414T>C c.2480T>C (p.Leu827Ser) c.2012T>C (p.Leu671Ser) c.2081T>C (p.Leu694Ser) c.2444T>C (p.Leu815Ser) c.1712T>C (p.Leu571Ser) c.122T>C (p.Leu41Ser) | gnomAD v4 |
| 13 | g.75309980A>T | CA388272214 | TBC1D4 | c.2555T>A (p.Leu852Ter) c.1823T>A (p.Leu608Ter) c.2366T>A (p.Leu789Ter) c.2531T>A (p.Leu844Ter) n.414T>A c.2480T>A (p.Leu827Ter) c.2012T>A (p.Leu671Ter) c.2081T>A (p.Leu694Ter) c.2444T>A (p.Leu815Ter) c.1712T>A (p.Leu571Ter) c.122T>A (p.Leu41Ter) | |
| 13 | g.75309981A= | CA2102689250 | TBC1D4 | c.2554T= (p.Leu852=) c.1822T= (p.Leu608=) c.2365T= (p.Leu789=) c.2530T= (p.Leu844=) n.413T= c.2479T= (p.Leu827=) c.2011T= (p.Leu671=) c.2080T= (p.Leu694=) c.2443T= (p.Leu815=) c.1711T= (p.Leu571=) c.121T= (p.Leu41=) | |
| 13 | g.75309981A>C | CA388272220 | TBC1D4 | c.2554T>G (p.Leu852Val) c.1822T>G (p.Leu608Val) c.2365T>G (p.Leu789Val) c.2530T>G (p.Leu844Val) n.413T>G c.2479T>G (p.Leu827Val) c.2011T>G (p.Leu671Val) c.2080T>G (p.Leu694Val) c.2443T>G (p.Leu815Val) c.1711T>G (p.Leu571Val) c.121T>G (p.Leu41Val) | dbSNP |
| 13 | g.75309981A>G | CA484056329 | TBC1D4 | c.2554T>C (p.Leu852=) c.1822T>C (p.Leu608=) c.2365T>C (p.Leu789=) c.2530T>C (p.Leu844=) n.413T>C c.2479T>C (p.Leu827=) c.2011T>C (p.Leu671=) c.2080T>C (p.Leu694=) c.2443T>C (p.Leu815=) c.1711T>C (p.Leu571=) c.121T>C (p.Leu41=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.75309981A>T | CA388272222 | TBC1D4 | c.2554T>A (p.Leu852Met) c.1822T>A (p.Leu608Met) c.2365T>A (p.Leu789Met) c.2530T>A (p.Leu844Met) n.413T>A c.2479T>A (p.Leu827Met) c.2011T>A (p.Leu671Met) c.2080T>A (p.Leu694Met) c.2443T>A (p.Leu815Met) c.1711T>A (p.Leu571Met) c.121T>A (p.Leu41Met) | |
| 13 | g.75309982G>A | CA484056332 | TBC1D4 | c.2553C>T (p.Ile851=) c.1821C>T (p.Ile607=) c.2364C>T (p.Ile788=) c.2529C>T (p.Ile843=) n.412C>T c.2478C>T (p.Ile826=) c.2010C>T (p.Ile670=) c.2079C>T (p.Ile693=) c.2442C>T (p.Ile814=) c.1710C>T (p.Ile570=) c.120C>T (p.Ile40=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.75309982G>C | CA388272224 | TBC1D4 | c.2553C>G (p.Ile851Met) c.1821C>G (p.Ile607Met) c.2364C>G (p.Ile788Met) c.2529C>G (p.Ile843Met) n.412C>G c.2478C>G (p.Ile826Met) c.2010C>G (p.Ile670Met) c.2079C>G (p.Ile693Met) c.2442C>G (p.Ile814Met) c.1710C>G (p.Ile570Met) c.120C>G (p.Ile40Met) | |
| 13 | g.75309982G= | CA2102689252 | TBC1D4 | c.2553C= (p.Ile851=) c.1821C= (p.Ile607=) c.2364C= (p.Ile788=) c.2529C= (p.Ile843=) n.412C= c.2478C= (p.Ile826=) c.2010C= (p.Ile670=) c.2079C= (p.Ile693=) c.2442C= (p.Ile814=) c.1710C= (p.Ile570=) c.120C= (p.Ile40=) | |
| 13 | g.75309982G>T | CA484056333 | TBC1D4 | c.2553C>A (p.Ile851=) c.1821C>A (p.Ile607=) c.2364C>A (p.Ile788=) c.2529C>A (p.Ile843=) n.412C>A c.2478C>A (p.Ile826=) c.2010C>A (p.Ile670=) c.2079C>A (p.Ile693=) c.2442C>A (p.Ile814=) c.1710C>A (p.Ile570=) c.120C>A (p.Ile40=) | |
| 13 | g.75309983A>C | CA388272226 | TBC1D4 | c.2552T>G (p.Ile851Ser) c.1820T>G (p.Ile607Ser) c.2363T>G (p.Ile788Ser) c.2528T>G (p.Ile843Ser) n.411T>G c.2477T>G (p.Ile826Ser) c.2009T>G (p.Ile670Ser) c.2078T>G (p.Ile693Ser) c.2441T>G (p.Ile814Ser) c.1709T>G (p.Ile570Ser) c.119T>G (p.Ile40Ser) | |
| 13 | g.75309983A>G | CA388272229 | TBC1D4 | c.2552T>C (p.Ile851Thr) c.1820T>C (p.Ile607Thr) c.2363T>C (p.Ile788Thr) c.2528T>C (p.Ile843Thr) n.411T>C c.2477T>C (p.Ile826Thr) c.2009T>C (p.Ile670Thr) c.2078T>C (p.Ile693Thr) c.2441T>C (p.Ile814Thr) c.1709T>C (p.Ile570Thr) c.119T>C (p.Ile40Thr) | |
| 13 | g.75309983A>T | CA388272232 | TBC1D4 | c.2552T>A (p.Ile851Asn) c.1820T>A (p.Ile607Asn) c.2363T>A (p.Ile788Asn) c.2528T>A (p.Ile843Asn) n.411T>A c.2477T>A (p.Ile826Asn) c.2009T>A (p.Ile670Asn) c.2078T>A (p.Ile693Asn) c.2441T>A (p.Ile814Asn) c.1709T>A (p.Ile570Asn) c.119T>A (p.Ile40Asn) | |
| 13 | g.75309984T>A | CA388272240 | TBC1D4 | c.2551A>T (p.Ile851Phe) c.1819A>T (p.Ile607Phe) c.2362A>T (p.Ile788Phe) c.2527A>T (p.Ile843Phe) n.410A>T c.2476A>T (p.Ile826Phe) c.2008A>T (p.Ile670Phe) c.2077A>T (p.Ile693Phe) c.2440A>T (p.Ile814Phe) c.1708A>T (p.Ile570Phe) c.118A>T (p.Ile40Phe) | |
| 13 | g.75309984T>C | CA388272239 | TBC1D4 | c.2551A>G (p.Ile851Val) c.1819A>G (p.Ile607Val) c.2362A>G (p.Ile788Val) c.2527A>G (p.Ile843Val) n.410A>G c.2476A>G (p.Ile826Val) c.2008A>G (p.Ile670Val) c.2077A>G (p.Ile693Val) c.2440A>G (p.Ile814Val) c.1708A>G (p.Ile570Val) c.118A>G (p.Ile40Val) | |
| 13 | g.75309984T>G | CA388272236 | TBC1D4 | c.2551A>C (p.Ile851Leu) c.1819A>C (p.Ile607Leu) c.2362A>C (p.Ile788Leu) c.2527A>C (p.Ile843Leu) n.410A>C c.2476A>C (p.Ile826Leu) c.2008A>C (p.Ile670Leu) c.2077A>C (p.Ile693Leu) c.2440A>C (p.Ile814Leu) c.1708A>C (p.Ile570Leu) c.118A>C (p.Ile40Leu) | |
| 13 | g.75309985T>A | CA388272241 | TBC1D4 | c.2550A>T (p.Gln850His) c.1818A>T (p.Gln606His) c.2361A>T (p.Gln787His) c.2526A>T (p.Gln842His) n.409A>T c.2475A>T (p.Gln825His) c.2007A>T (p.Gln669His) c.2076A>T (p.Gln692His) c.2439A>T (p.Gln813His) c.1707A>T (p.Gln569His) c.117A>T (p.Gln39His) | |
| 13 | g.75309985T>C | CA7003681 | TBC1D4 | c.2550A>G (p.Gln850=) c.1818A>G (p.Gln606=) c.2361A>G (p.Gln787=) c.2526A>G (p.Gln842=) n.409A>G c.2475A>G (p.Gln825=) c.2007A>G (p.Gln669=) c.2076A>G (p.Gln692=) c.2439A>G (p.Gln813=) c.1707A>G (p.Gln569=) c.117A>G (p.Gln39=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 13 | g.75309985T>G | CA388272244 | TBC1D4 | c.2550A>C (p.Gln850His) c.1818A>C (p.Gln606His) c.2361A>C (p.Gln787His) c.2526A>C (p.Gln842His) n.409A>C c.2475A>C (p.Gln825His) c.2007A>C (p.Gln669His) c.2076A>C (p.Gln692His) c.2439A>C (p.Gln813His) c.1707A>C (p.Gln569His) c.117A>C (p.Gln39His) | COSMIC |
| 13 | g.75309985T= | CA2102689254 | TBC1D4 | c.2550A= (p.Gln850=) c.1818A= (p.Gln606=) c.2361A= (p.Gln787=) c.2526A= (p.Gln842=) n.409A= c.2475A= (p.Gln825=) c.2007A= (p.Gln669=) c.2076A= (p.Gln692=) c.2439A= (p.Gln813=) c.1707A= (p.Gln569=) c.117A= (p.Gln39=) | |
| 13 | g.75309986T>A | CA388272247 | TBC1D4 | c.2549A>T (p.Gln850Leu) c.1817A>T (p.Gln606Leu) c.2360A>T (p.Gln787Leu) c.2525A>T (p.Gln842Leu) n.408A>T c.2474A>T (p.Gln825Leu) c.2006A>T (p.Gln669Leu) c.2075A>T (p.Gln692Leu) c.2438A>T (p.Gln813Leu) c.1706A>T (p.Gln569Leu) c.116A>T (p.Gln39Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.75309986T>C | CA388272252 | TBC1D4 | c.2549A>G (p.Gln850Arg) c.1817A>G (p.Gln606Arg) c.2360A>G (p.Gln787Arg) c.2525A>G (p.Gln842Arg) n.408A>G c.2474A>G (p.Gln825Arg) c.2006A>G (p.Gln669Arg) c.2075A>G (p.Gln692Arg) c.2438A>G (p.Gln813Arg) c.1706A>G (p.Gln569Arg) c.116A>G (p.Gln39Arg) | |
| 13 | g.75309986T>G | CA388272255 | TBC1D4 | c.2549A>C (p.Gln850Pro) c.1817A>C (p.Gln606Pro) c.2360A>C (p.Gln787Pro) c.2525A>C (p.Gln842Pro) n.408A>C c.2474A>C (p.Gln825Pro) c.2006A>C (p.Gln669Pro) c.2075A>C (p.Gln692Pro) c.2438A>C (p.Gln813Pro) c.1706A>C (p.Gln569Pro) c.116A>C (p.Gln39Pro) | |
| 13 | g.75309986T= | CA2102689257 | TBC1D4 | c.2549A= (p.Gln850=) c.1817A= (p.Gln606=) c.2360A= (p.Gln787=) c.2525A= (p.Gln842=) n.408A= c.2474A= (p.Gln825=) c.2006A= (p.Gln669=) c.2075A= (p.Gln692=) c.2438A= (p.Gln813=) c.1706A= (p.Gln569=) c.116A= (p.Gln39=) | |
| 13 | g.75309987G>A | CA388272258 | TBC1D4 | c.2548C>T (p.Gln850Ter) c.1816C>T (p.Gln606Ter) c.2359C>T (p.Gln787Ter) c.2524C>T (p.Gln842Ter) n.407C>T c.2473C>T (p.Gln825Ter) c.2005C>T (p.Gln669Ter) c.2074C>T (p.Gln692Ter) c.2437C>T (p.Gln813Ter) c.1705C>T (p.Gln569Ter) c.115C>T (p.Gln39Ter) | |
| 13 | g.75309987G>C | CA388272256 | TBC1D4 | c.2548C>G (p.Gln850Glu) c.1816C>G (p.Gln606Glu) c.2359C>G (p.Gln787Glu) c.2524C>G (p.Gln842Glu) n.407C>G c.2473C>G (p.Gln825Glu) c.2005C>G (p.Gln669Glu) c.2074C>G (p.Gln692Glu) c.2437C>G (p.Gln813Glu) c.1705C>G (p.Gln569Glu) c.115C>G (p.Gln39Glu) | |
| 13 | g.75309987G>T | CA388272257 | TBC1D4 | c.2548C>A (p.Gln850Lys) c.1816C>A (p.Gln606Lys) c.2359C>A (p.Gln787Lys) c.2524C>A (p.Gln842Lys) n.407C>A c.2473C>A (p.Gln825Lys) c.2005C>A (p.Gln669Lys) c.2074C>A (p.Gln692Lys) c.2437C>A (p.Gln813Lys) c.1705C>A (p.Gln569Lys) c.115C>A (p.Gln39Lys) | |
| 13 | g.75309988T>A | CA388272261 | TBC1D4 | c.2547A>T (p.Gln849His) c.1815A>T (p.Gln605His) c.2358A>T (p.Gln786His) c.2523A>T (p.Gln841His) n.406A>T c.2472A>T (p.Gln824His) c.2004A>T (p.Gln668His) c.2073A>T (p.Gln691His) c.2436A>T (p.Gln812His) c.1704A>T (p.Gln568His) c.114A>T (p.Gln38His) | |
| 13 | g.75309988T>C | CA484056336 | TBC1D4 | c.2547A>G (p.Gln849=) c.1815A>G (p.Gln605=) c.2358A>G (p.Gln786=) c.2523A>G (p.Gln841=) n.406A>G c.2472A>G (p.Gln824=) c.2004A>G (p.Gln668=) c.2073A>G (p.Gln691=) c.2436A>G (p.Gln812=) c.1704A>G (p.Gln568=) c.114A>G (p.Gln38=) | dbSNP gnomAD v4 |
| 13 | g.75309988T>G | CA388272264 | TBC1D4 | c.2547A>C (p.Gln849His) c.1815A>C (p.Gln605His) c.2358A>C (p.Gln786His) c.2523A>C (p.Gln841His) n.406A>C c.2472A>C (p.Gln824His) c.2004A>C (p.Gln668His) c.2073A>C (p.Gln691His) c.2436A>C (p.Gln812His) c.1704A>C (p.Gln568His) c.114A>C (p.Gln38His) | |
| 13 | g.75309989T>A | CA388272268 | TBC1D4 | c.2546A>T (p.Gln849Leu) c.1814A>T (p.Gln605Leu) c.2357A>T (p.Gln786Leu) c.2522A>T (p.Gln841Leu) n.405A>T c.2471A>T (p.Gln824Leu) c.2003A>T (p.Gln668Leu) c.2072A>T (p.Gln691Leu) c.2435A>T (p.Gln812Leu) c.1703A>T (p.Gln568Leu) c.113A>T (p.Gln38Leu) | |
| 13 | g.75309989T>C | CA388272270 | TBC1D4 | c.2546A>G (p.Gln849Arg) c.1814A>G (p.Gln605Arg) c.2357A>G (p.Gln786Arg) c.2522A>G (p.Gln841Arg) n.405A>G c.2471A>G (p.Gln824Arg) c.2003A>G (p.Gln668Arg) c.2072A>G (p.Gln691Arg) c.2435A>G (p.Gln812Arg) c.1703A>G (p.Gln568Arg) c.113A>G (p.Gln38Arg) | gnomAD v4 |
| 13 | g.75309989T>G | CA388272273 | TBC1D4 | c.2546A>C (p.Gln849Pro) c.1814A>C (p.Gln605Pro) c.2357A>C (p.Gln786Pro) c.2522A>C (p.Gln841Pro) n.405A>C c.2471A>C (p.Gln824Pro) c.2003A>C (p.Gln668Pro) c.2072A>C (p.Gln691Pro) c.2435A>C (p.Gln812Pro) c.1703A>C (p.Gln568Pro) c.113A>C (p.Gln38Pro) | |
| 13 | g.75309990G>A | CA388272276 | TBC1D4 | c.2545C>T (p.Gln849Ter) c.1813C>T (p.Gln605Ter) c.2356C>T (p.Gln786Ter) c.2521C>T (p.Gln841Ter) n.404C>T c.2470C>T (p.Gln824Ter) c.2002C>T (p.Gln668Ter) c.2071C>T (p.Gln691Ter) c.2434C>T (p.Gln812Ter) c.1702C>T (p.Gln568Ter) c.112C>T (p.Gln38Ter) | |
| 13 | g.75309990G>C | CA388272282 | TBC1D4 | c.2545C>G (p.Gln849Glu) c.1813C>G (p.Gln605Glu) c.2356C>G (p.Gln786Glu) c.2521C>G (p.Gln841Glu) n.404C>G c.2470C>G (p.Gln824Glu) c.2002C>G (p.Gln668Glu) c.2071C>G (p.Gln691Glu) c.2434C>G (p.Gln812Glu) c.1702C>G (p.Gln568Glu) c.112C>G (p.Gln38Glu) | |
| 13 | g.75309990G>T | CA388272279 | TBC1D4 | c.2545C>A (p.Gln849Lys) c.1813C>A (p.Gln605Lys) c.2356C>A (p.Gln786Lys) c.2521C>A (p.Gln841Lys) n.404C>A c.2470C>A (p.Gln824Lys) c.2002C>A (p.Gln668Lys) c.2071C>A (p.Gln691Lys) c.2434C>A (p.Gln812Lys) c.1702C>A (p.Gln568Lys) c.112C>A (p.Gln38Lys) | |
| 13 | g.75309991G>A | CA484056338 | TBC1D4 | c.2544C>T (p.His848=) c.1812C>T (p.His604=) c.2355C>T (p.His785=) c.2520C>T (p.His840=) n.403C>T c.2469C>T (p.His823=) c.2001C>T (p.His667=) c.2070C>T (p.His690=) c.2433C>T (p.His811=) c.1701C>T (p.His567=) c.111C>T (p.His37=) | gnomAD v4 |
| 13 | g.75309991G>C | CA388272286 | TBC1D4 | c.2544C>G (p.His848Gln) c.1812C>G (p.His604Gln) c.2355C>G (p.His785Gln) c.2520C>G (p.His840Gln) n.403C>G c.2469C>G (p.His823Gln) c.2001C>G (p.His667Gln) c.2070C>G (p.His690Gln) c.2433C>G (p.His811Gln) c.1701C>G (p.His567Gln) c.111C>G (p.His37Gln) | |
| 13 | g.75309991G>T | CA388272288 | TBC1D4 | c.2544C>A (p.His848Gln) c.1812C>A (p.His604Gln) c.2355C>A (p.His785Gln) c.2520C>A (p.His840Gln) n.403C>A c.2469C>A (p.His823Gln) c.2001C>A (p.His667Gln) c.2070C>A (p.His690Gln) c.2433C>A (p.His811Gln) c.1701C>A (p.His567Gln) c.111C>A (p.His37Gln) | |
| 13 | g.75309992T>A | CA388272291 | TBC1D4 | c.2543A>T (p.His848Leu) c.1811A>T (p.His604Leu) c.2354A>T (p.His785Leu) c.2519A>T (p.His840Leu) n.402A>T c.2468A>T (p.His823Leu) c.2000A>T (p.His667Leu) c.2069A>T (p.His690Leu) c.2432A>T (p.His811Leu) c.1700A>T (p.His567Leu) c.110A>T (p.His37Leu) | |
| 13 | g.75309992T>C | CA388272293 | TBC1D4 | c.2543A>G (p.His848Arg) c.1811A>G (p.His604Arg) c.2354A>G (p.His785Arg) c.2519A>G (p.His840Arg) n.402A>G c.2468A>G (p.His823Arg) c.2000A>G (p.His667Arg) c.2069A>G (p.His690Arg) c.2432A>G (p.His811Arg) c.1700A>G (p.His567Arg) c.110A>G (p.His37Arg) | gnomAD v4 |
| 13 | g.75309992T>G | CA388272296 | TBC1D4 | c.2543A>C (p.His848Pro) c.1811A>C (p.His604Pro) c.2354A>C (p.His785Pro) c.2519A>C (p.His840Pro) n.402A>C c.2468A>C (p.His823Pro) c.2000A>C (p.His667Pro) c.2069A>C (p.His690Pro) c.2432A>C (p.His811Pro) c.1700A>C (p.His567Pro) c.110A>C (p.His37Pro) | |
| 13 | g.75309993G>A | CA7003682 | TBC1D4 | c.2542C>T (p.His848Tyr) c.1810C>T (p.His604Tyr) c.2353C>T (p.His785Tyr) c.2518C>T (p.His840Tyr) n.401C>T c.2467C>T (p.His823Tyr) c.1999C>T (p.His667Tyr) c.2068C>T (p.His690Tyr) c.2431C>T (p.His811Tyr) c.1699C>T (p.His567Tyr) c.109C>T (p.His37Tyr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 13 | g.75309993G>C | CA388272300 | TBC1D4 | c.2542C>G (p.His848Asp) c.1810C>G (p.His604Asp) c.2353C>G (p.His785Asp) c.2518C>G (p.His840Asp) n.401C>G c.2467C>G (p.His823Asp) c.1999C>G (p.His667Asp) c.2068C>G (p.His690Asp) c.2431C>G (p.His811Asp) c.1699C>G (p.His567Asp) c.109C>G (p.His37Asp) | |
| 13 | g.75309993G= | CA2102689261 | TBC1D4 | c.2542C= (p.His848=) c.1810C= (p.His604=) c.2353C= (p.His785=) c.2518C= (p.His840=) n.401C= c.2467C= (p.His823=) c.1999C= (p.His667=) c.2068C= (p.His690=) c.2431C= (p.His811=) c.1699C= (p.His567=) c.109C= (p.His37=) | |
| 13 | g.75309993G>T | CA388272303 | TBC1D4 | c.2542C>A (p.His848Asn) c.1810C>A (p.His604Asn) c.2353C>A (p.His785Asn) c.2518C>A (p.His840Asn) n.401C>A c.2467C>A (p.His823Asn) c.1999C>A (p.His667Asn) c.2068C>A (p.His690Asn) c.2431C>A (p.His811Asn) c.1699C>A (p.His567Asn) c.109C>A (p.His37Asn) | |
| 13 | g.75309994T>A | CA484056341 | TBC1D4 | c.2541A>T (p.Ile847=) c.1809A>T (p.Ile603=) c.2352A>T (p.Ile784=) c.2517A>T (p.Ile839=) n.400A>T c.2466A>T (p.Ile822=) c.1998A>T (p.Ile666=) c.2067A>T (p.Ile689=) c.2430A>T (p.Ile810=) c.1698A>T (p.Ile566=) c.108A>T (p.Ile36=) | |
| 13 | g.75309994T>C | CA388272306 | TBC1D4 | c.2541A>G (p.Ile847Met) c.1809A>G (p.Ile603Met) c.2352A>G (p.Ile784Met) c.2517A>G (p.Ile839Met) n.400A>G c.2466A>G (p.Ile822Met) c.1998A>G (p.Ile666Met) c.2067A>G (p.Ile689Met) c.2430A>G (p.Ile810Met) c.1698A>G (p.Ile566Met) c.108A>G (p.Ile36Met) |