UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 13 | g.75309994T>G | CA484056342 | TBC1D4 | c.2541A>C (p.Ile847=) c.1809A>C (p.Ile603=) c.2352A>C (p.Ile784=) c.2517A>C (p.Ile839=) n.400A>C c.2466A>C (p.Ile822=) c.1998A>C (p.Ile666=) c.2067A>C (p.Ile689=) c.2430A>C (p.Ile810=) c.1698A>C (p.Ile566=) c.108A>C (p.Ile36=) | |
| 13 | g.75309995A>C | CA388272311 | TBC1D4 | c.2540T>G (p.Ile847Arg) c.1808T>G (p.Ile603Arg) c.2351T>G (p.Ile784Arg) c.2516T>G (p.Ile839Arg) n.399T>G c.2465T>G (p.Ile822Arg) c.1997T>G (p.Ile666Arg) c.2066T>G (p.Ile689Arg) c.2429T>G (p.Ile810Arg) c.1697T>G (p.Ile566Arg) c.107T>G (p.Ile36Arg) | |
| 13 | g.75309995A>G | CA388272315 | TBC1D4 | c.2540T>C (p.Ile847Thr) c.1808T>C (p.Ile603Thr) c.2351T>C (p.Ile784Thr) c.2516T>C (p.Ile839Thr) n.399T>C c.2465T>C (p.Ile822Thr) c.1997T>C (p.Ile666Thr) c.2066T>C (p.Ile689Thr) c.2429T>C (p.Ile810Thr) c.1697T>C (p.Ile566Thr) c.107T>C (p.Ile36Thr) | |
| 13 | g.75309995A>T | CA388272317 | TBC1D4 | c.2540T>A (p.Ile847Lys) c.1808T>A (p.Ile603Lys) c.2351T>A (p.Ile784Lys) c.2516T>A (p.Ile839Lys) n.399T>A c.2465T>A (p.Ile822Lys) c.1997T>A (p.Ile666Lys) c.2066T>A (p.Ile689Lys) c.2429T>A (p.Ile810Lys) c.1697T>A (p.Ile566Lys) c.107T>A (p.Ile36Lys) | |
| 13 | g.75309996T>A | CA388272327 | TBC1D4 | c.2539A>T (p.Ile847Leu) c.1807A>T (p.Ile603Leu) c.2350A>T (p.Ile784Leu) c.2515A>T (p.Ile839Leu) n.398A>T c.2464A>T (p.Ile822Leu) c.1996A>T (p.Ile666Leu) c.2065A>T (p.Ile689Leu) c.2428A>T (p.Ile810Leu) c.1696A>T (p.Ile566Leu) c.106A>T (p.Ile36Leu) | |
| 13 | g.75309996T>C | CA7003683 | TBC1D4 | c.2539A>G (p.Ile847Val) c.1807A>G (p.Ile603Val) c.2350A>G (p.Ile784Val) c.2515A>G (p.Ile839Val) n.398A>G c.2464A>G (p.Ile822Val) c.1996A>G (p.Ile666Val) c.2065A>G (p.Ile689Val) c.2428A>G (p.Ile810Val) c.1696A>G (p.Ile566Val) c.106A>G (p.Ile36Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.75309996T>G | CA388272322 | TBC1D4 | c.2539A>C (p.Ile847Leu) c.1807A>C (p.Ile603Leu) c.2350A>C (p.Ile784Leu) c.2515A>C (p.Ile839Leu) n.398A>C c.2464A>C (p.Ile822Leu) c.1996A>C (p.Ile666Leu) c.2065A>C (p.Ile689Leu) c.2428A>C (p.Ile810Leu) c.1696A>C (p.Ile566Leu) c.106A>C (p.Ile36Leu) | |
| 13 | g.75309996T= | CA2102689263 | TBC1D4 | c.2539A= (p.Ile847=) c.1807A= (p.Ile603=) c.2350A= (p.Ile784=) c.2515A= (p.Ile839=) n.398A= c.2464A= (p.Ile822=) c.1996A= (p.Ile666=) c.2065A= (p.Ile689=) c.2428A= (p.Ile810=) c.1696A= (p.Ile566=) c.106A= (p.Ile36=) | |
| 13 | g.75309997A>C | CA484056345 | TBC1D4 | c.2538T>G (p.Ala846=) c.1806T>G (p.Ala602=) c.2349T>G (p.Ala783=) c.2514T>G (p.Ala838=) n.397T>G c.2463T>G (p.Ala821=) c.1995T>G (p.Ala665=) c.2064T>G (p.Ala688=) c.2427T>G (p.Ala809=) c.1695T>G (p.Ala565=) c.105T>G (p.Ala35=) | |
| 13 | g.75309997A>G | CA484056346 | TBC1D4 | c.2538T>C (p.Ala846=) c.1806T>C (p.Ala602=) c.2349T>C (p.Ala783=) c.2514T>C (p.Ala838=) n.397T>C c.2463T>C (p.Ala821=) c.1995T>C (p.Ala665=) c.2064T>C (p.Ala688=) c.2427T>C (p.Ala809=) c.1695T>C (p.Ala565=) c.105T>C (p.Ala35=) | gnomAD v4 |
| 13 | g.75309997A>T | CA484056347 | TBC1D4 | c.2538T>A (p.Ala846=) c.1806T>A (p.Ala602=) c.2349T>A (p.Ala783=) c.2514T>A (p.Ala838=) n.397T>A c.2463T>A (p.Ala821=) c.1995T>A (p.Ala665=) c.2064T>A (p.Ala688=) c.2427T>A (p.Ala809=) c.1695T>A (p.Ala565=) c.105T>A (p.Ala35=) | gnomAD v4 |
| 13 | g.75309998G>A | CA388272333 | TBC1D4 | c.2537C>T (p.Ala846Val) c.1805C>T (p.Ala602Val) c.2348C>T (p.Ala783Val) c.2513C>T (p.Ala838Val) n.396C>T c.2462C>T (p.Ala821Val) c.1994C>T (p.Ala665Val) c.2063C>T (p.Ala688Val) c.2426C>T (p.Ala809Val) c.1694C>T (p.Ala565Val) c.104C>T (p.Ala35Val) | |
| 13 | g.75309998G>C | CA388272330 | TBC1D4 | c.2537C>G (p.Ala846Gly) c.1805C>G (p.Ala602Gly) c.2348C>G (p.Ala783Gly) c.2513C>G (p.Ala838Gly) n.396C>G c.2462C>G (p.Ala821Gly) c.1994C>G (p.Ala665Gly) c.2063C>G (p.Ala688Gly) c.2426C>G (p.Ala809Gly) c.1694C>G (p.Ala565Gly) c.104C>G (p.Ala35Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.75309998G= | CA2102689266 | TBC1D4 | c.2537C= (p.Ala846=) c.1805C= (p.Ala602=) c.2348C= (p.Ala783=) c.2513C= (p.Ala838=) n.396C= c.2462C= (p.Ala821=) c.1994C= (p.Ala665=) c.2063C= (p.Ala688=) c.2426C= (p.Ala809=) c.1694C= (p.Ala565=) c.104C= (p.Ala35=) | |
| 13 | g.75309998G>T | CA388272336 | TBC1D4 | c.2537C>A (p.Ala846Asp) c.1805C>A (p.Ala602Asp) c.2348C>A (p.Ala783Asp) c.2513C>A (p.Ala838Asp) n.396C>A c.2462C>A (p.Ala821Asp) c.1994C>A (p.Ala665Asp) c.2063C>A (p.Ala688Asp) c.2426C>A (p.Ala809Asp) c.1694C>A (p.Ala565Asp) c.104C>A (p.Ala35Asp) |