WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 13 | g.75309999C>A | CA388272340 | TBC1D4 | c.2536G>T (p.Ala846Ser) c.1804G>T (p.Ala602Ser) c.2347G>T (p.Ala783Ser) c.2512G>T (p.Ala838Ser) n.395G>T c.2461G>T (p.Ala821Ser) c.1993G>T (p.Ala665Ser) c.2062G>T (p.Ala688Ser) c.2425G>T (p.Ala809Ser) c.1693G>T (p.Ala565Ser) c.103G>T (p.Ala35Ser) | |
| 13 | g.75309999C= | CA2102689268 | TBC1D4 | c.2536G= (p.Ala846=) c.1804G= (p.Ala602=) c.2347G= (p.Ala783=) c.2512G= (p.Ala838=) n.395G= c.2461G= (p.Ala821=) c.1993G= (p.Ala665=) c.2062G= (p.Ala688=) c.2425G= (p.Ala809=) c.1693G= (p.Ala565=) c.103G= (p.Ala35=) | |
| 13 | g.75309999C>G | CA388272343 | TBC1D4 | c.2536G>C (p.Ala846Pro) c.1804G>C (p.Ala602Pro) c.2347G>C (p.Ala783Pro) c.2512G>C (p.Ala838Pro) n.395G>C c.2461G>C (p.Ala821Pro) c.1993G>C (p.Ala665Pro) c.2062G>C (p.Ala688Pro) c.2425G>C (p.Ala809Pro) c.1693G>C (p.Ala565Pro) c.103G>C (p.Ala35Pro) | |
| 13 | g.75309999C>T | CA388272348 | TBC1D4 | c.2536G>A (p.Ala846Thr) c.1804G>A (p.Ala602Thr) c.2347G>A (p.Ala783Thr) c.2512G>A (p.Ala838Thr) n.395G>A c.2461G>A (p.Ala821Thr) c.1993G>A (p.Ala665Thr) c.2062G>A (p.Ala688Thr) c.2425G>A (p.Ala809Thr) c.1693G>A (p.Ala565Thr) c.103G>A (p.Ala35Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.75310000T>A | CA388272352 | TBC1D4 | c.2535A>T (p.Lys845Asn) c.1803A>T (p.Lys601Asn) c.2346A>T (p.Lys782Asn) c.2511A>T (p.Lys837Asn) n.394A>T c.2460A>T (p.Lys820Asn) c.1992A>T (p.Lys664Asn) c.2061A>T (p.Lys687Asn) c.2424A>T (p.Lys808Asn) c.1692A>T (p.Lys564Asn) c.102A>T (p.Lys34Asn) | |
| 13 | g.75310000T>C | CA484056348 | TBC1D4 | c.2535A>G (p.Lys845=) c.1803A>G (p.Lys601=) c.2346A>G (p.Lys782=) c.2511A>G (p.Lys837=) n.394A>G c.2460A>G (p.Lys820=) c.1992A>G (p.Lys664=) c.2061A>G (p.Lys687=) c.2424A>G (p.Lys808=) c.1692A>G (p.Lys564=) c.102A>G (p.Lys34=) | |
| 13 | g.75310000T>G | CA388272353 | TBC1D4 | c.2535A>C (p.Lys845Asn) c.1803A>C (p.Lys601Asn) c.2346A>C (p.Lys782Asn) c.2511A>C (p.Lys837Asn) n.394A>C c.2460A>C (p.Lys820Asn) c.1992A>C (p.Lys664Asn) c.2061A>C (p.Lys687Asn) c.2424A>C (p.Lys808Asn) c.1692A>C (p.Lys564Asn) c.102A>C (p.Lys34Asn) | |
| 13 | g.75310001T>A | CA388272354 | TBC1D4 | c.2534A>T (p.Lys845Ile) c.1802A>T (p.Lys601Ile) c.2345A>T (p.Lys782Ile) c.2510A>T (p.Lys837Ile) n.393A>T c.2459A>T (p.Lys820Ile) c.1991A>T (p.Lys664Ile) c.2060A>T (p.Lys687Ile) c.2423A>T (p.Lys808Ile) c.1691A>T (p.Lys564Ile) c.101A>T (p.Lys34Ile) | |
| 13 | g.75310001T>C | CA388272355 | TBC1D4 | c.2534A>G (p.Lys845Arg) c.1802A>G (p.Lys601Arg) c.2345A>G (p.Lys782Arg) c.2510A>G (p.Lys837Arg) n.393A>G c.2459A>G (p.Lys820Arg) c.1991A>G (p.Lys664Arg) c.2060A>G (p.Lys687Arg) c.2423A>G (p.Lys808Arg) c.1691A>G (p.Lys564Arg) c.101A>G (p.Lys34Arg) | |
| 13 | g.75310001T>G | CA388272358 | TBC1D4 | c.2534A>C (p.Lys845Thr) c.1802A>C (p.Lys601Thr) c.2345A>C (p.Lys782Thr) c.2510A>C (p.Lys837Thr) n.393A>C c.2459A>C (p.Lys820Thr) c.1991A>C (p.Lys664Thr) c.2060A>C (p.Lys687Thr) c.2423A>C (p.Lys808Thr) c.1691A>C (p.Lys564Thr) c.101A>C (p.Lys34Thr) | |
| 13 | g.75310002T>A | CA388272362 | TBC1D4 | c.2533A>T (p.Lys845Ter) c.1801A>T (p.Lys601Ter) c.2344A>T (p.Lys782Ter) c.2509A>T (p.Lys837Ter) n.392A>T c.2458A>T (p.Lys820Ter) c.1990A>T (p.Lys664Ter) c.2059A>T (p.Lys687Ter) c.2422A>T (p.Lys808Ter) c.1690A>T (p.Lys564Ter) c.100A>T (p.Lys34Ter) | |
| 13 | g.75310002T>C | CA7003684 | TBC1D4 | c.2533A>G (p.Lys845Glu) c.1801A>G (p.Lys601Glu) c.2344A>G (p.Lys782Glu) c.2509A>G (p.Lys837Glu) n.392A>G c.2458A>G (p.Lys820Glu) c.1990A>G (p.Lys664Glu) c.2059A>G (p.Lys687Glu) c.2422A>G (p.Lys808Glu) c.1690A>G (p.Lys564Glu) c.100A>G (p.Lys34Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.75310002T>G | CA388272369 | TBC1D4 | c.2533A>C (p.Lys845Gln) c.1801A>C (p.Lys601Gln) c.2344A>C (p.Lys782Gln) c.2509A>C (p.Lys837Gln) n.392A>C c.2458A>C (p.Lys820Gln) c.1990A>C (p.Lys664Gln) c.2059A>C (p.Lys687Gln) c.2422A>C (p.Lys808Gln) c.1690A>C (p.Lys564Gln) c.100A>C (p.Lys34Gln) | |
| 13 | g.75310002T= | CA2102689273 | TBC1D4 | c.2533A= (p.Lys845=) c.1801A= (p.Lys601=) c.2344A= (p.Lys782=) c.2509A= (p.Lys837=) n.392A= c.2458A= (p.Lys820=) c.1990A= (p.Lys664=) c.2059A= (p.Lys687=) c.2422A= (p.Lys808=) c.1690A= (p.Lys564=) c.100A= (p.Lys34=) |