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 |
|---|---|---|---|---|---|
| 1 | g.235806623T>A | CA344956890 | LYST | c.2513A>T (p.Asp838Val) c.1916A>T (p.Asp639Val) n.3064A>T c.176A>T (p.Asp59Val) n.2695A>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.235806623T>C | CA344956891 | LYST | c.2513A>G (p.Asp838Gly) c.1916A>G (p.Asp639Gly) n.3064A>G c.176A>G (p.Asp59Gly) n.2695A>G | dbSNP |
| 1 | g.235806623T>G | CA344956892 | LYST | c.2513A>C (p.Asp838Ala) c.1916A>C (p.Asp639Ala) n.3064A>C c.176A>C (p.Asp59Ala) n.2695A>C | |
| 1 | g.235806623T= | CA2486650253 | LYST | c.2513A= (p.Asp838=) c.1916A= (p.Asp639=) n.3064A= c.176A= (p.Asp59=) n.2695A= | |
| 1 | g.235806624C>A | CA344956894 | LYST | c.2512G>T (p.Asp838Tyr) c.1915G>T (p.Asp639Tyr) n.3063G>T c.175G>T (p.Asp59Tyr) n.2694G>T | |
| 1 | g.235806624C>G | CA344956896 | LYST | c.2512G>C (p.Asp838His) c.1915G>C (p.Asp639His) n.3063G>C c.175G>C (p.Asp59His) n.2694G>C | |
| 1 | g.235806624C>T | CA344956897 | LYST | c.2512G>A (p.Asp838Asn) c.1915G>A (p.Asp639Asn) n.3063G>A c.175G>A (p.Asp59Asn) n.2694G>A | gnomAD v4 |
| 1 | g.235806625T>A | CA424027594 | LYST | c.2511A>T (p.Pro837=) c.1914A>T (p.Pro638=) n.3062A>T c.174A>T (p.Pro58=) n.2693A>T | |
| 1 | g.235806625T>C | CA39616383 | LYST | c.2511A>G (p.Pro837=) c.1914A>G (p.Pro638=) n.3062A>G c.174A>G (p.Pro58=) n.2693A>G | dbSNP |
| 1 | g.235806625T>G | CA424027595 | LYST | c.2511A>C (p.Pro837=) c.1914A>C (p.Pro638=) n.3062A>C c.174A>C (p.Pro58=) n.2693A>C | |
| 1 | g.235806625T= | CA2486650254 | LYST | c.2511A= (p.Pro837=) c.1914A= (p.Pro638=) n.3062A= c.174A= (p.Pro58=) n.2693A= | |
| 1 | g.235806626G>A | CA344956899 | LYST | c.2510C>T (p.Pro837Leu) c.1913C>T (p.Pro638Leu) n.3061C>T c.173C>T (p.Pro58Leu) n.2692C>T | |
| 1 | g.235806626G>C | CA344956901 | LYST | c.2510C>G (p.Pro837Arg) c.1913C>G (p.Pro638Arg) n.3061C>G c.173C>G (p.Pro58Arg) n.2692C>G | |
| 1 | g.235806626G>T | CA344956903 | LYST | c.2510C>A (p.Pro837Gln) c.1913C>A (p.Pro638Gln) n.3061C>A c.173C>A (p.Pro58Gln) n.2692C>A | |
| 1 | g.235806627G>A | CA344956909 | LYST | c.2509C>T (p.Pro837Ser) c.1912C>T (p.Pro638Ser) n.3060C>T c.172C>T (p.Pro58Ser) n.2691C>T | COSMIC |
| 1 | g.235806627G>C | CA344956907 | LYST | c.2509C>G (p.Pro837Ala) c.1912C>G (p.Pro638Ala) n.3060C>G c.172C>G (p.Pro58Ala) n.2691C>G | ClinVar |
| 1 | g.235806627G>T | CA344956904 | LYST | c.2509C>A (p.Pro837Thr) c.1912C>A (p.Pro638Thr) n.3060C>A c.172C>A (p.Pro58Thr) n.2691C>A | gnomAD v4 |
| 1 | g.235806628A>C | CA424027601 | LYST | c.2508T>G (p.Val836=) c.1911T>G (p.Val637=) n.3059T>G c.171T>G (p.Val57=) n.2690T>G | |
| 1 | g.235806628A>G | CA424027605 | LYST | c.2508T>C (p.Val836=) c.1911T>C (p.Val637=) n.3059T>C c.171T>C (p.Val57=) n.2690T>C | |
| 1 | g.235806628A>T | CA424027606 | LYST | c.2508T>A (p.Val836=) c.1911T>A (p.Val637=) n.3059T>A c.171T>A (p.Val57=) n.2690T>A | |
| 1 | g.235806629A>C | CA344956915 | LYST | c.2507T>G (p.Val836Gly) c.1910T>G (p.Val637Gly) n.3058T>G c.170T>G (p.Val57Gly) n.2689T>G | |
| 1 | g.235806629A>G | CA344956911 | LYST | c.2507T>C (p.Val836Ala) c.1910T>C (p.Val637Ala) n.3058T>C c.170T>C (p.Val57Ala) n.2689T>C | |
| 1 | g.235806629A>T | CA344956913 | LYST | c.2507T>A (p.Val836Asp) c.1910T>A (p.Val637Asp) n.3058T>A c.170T>A (p.Val57Asp) n.2689T>A | |
| 1 | g.235806630C>A | CA344956916 | LYST | c.2506G>T (p.Val836Phe) c.1909G>T (p.Val637Phe) n.3057G>T c.169G>T (p.Val57Phe) n.2688G>T | |
| 1 | g.235806630C>G | CA344956918 | LYST | c.2506G>C (p.Val836Leu) c.1909G>C (p.Val637Leu) n.3057G>C c.169G>C (p.Val57Leu) n.2688G>C | |
| 1 | g.235806630C>T | CA344956920 | LYST | c.2506G>A (p.Val836Ile) c.1909G>A (p.Val637Ile) n.3057G>A c.169G>A (p.Val57Ile) n.2688G>A | COSMIC |
| 1 | g.235806631T>A | CA424027608 | LYST | c.2505A>T (p.Ser835=) c.1908A>T (p.Ser636=) n.3056A>T c.168A>T (p.Ser56=) n.2687A>T | |
| 1 | g.235806631T>C | CA424027610 | LYST | c.2505A>G (p.Ser835=) c.1908A>G (p.Ser636=) n.3056A>G c.168A>G (p.Ser56=) n.2687A>G | ClinVar |
| 1 | g.235806631T>G | CA424027609 | LYST | c.2505A>C (p.Ser835=) c.1908A>C (p.Ser636=) n.3056A>C c.168A>C (p.Ser56=) n.2687A>C | |
| 1 | g.235806632G>A | CA344956922 | LYST | c.2504C>T (p.Ser835Leu) c.1907C>T (p.Ser636Leu) n.3055C>T c.167C>T (p.Ser56Leu) n.2686C>T | |
| 1 | g.235806632G>C | CA344956924 | LYST | c.2504C>G (p.Ser835Ter) c.1907C>G (p.Ser636Ter) n.3055C>G c.167C>G (p.Ser56Ter) n.2686C>G | |
| 1 | g.235806632G>T | CA344956926 | LYST | c.2504C>A (p.Ser835Ter) c.1907C>A (p.Ser636Ter) n.3055C>A c.167C>A (p.Ser56Ter) n.2686C>A | |
| 1 | g.235806633A>C | CA344956928 | LYST | c.2503T>G (p.Ser835Ala) c.1906T>G (p.Ser636Ala) n.3054T>G c.166T>G (p.Ser56Ala) n.2685T>G | |
| 1 | g.235806633A>G | CA344956932 | LYST | c.2503T>C (p.Ser835Pro) c.1906T>C (p.Ser636Pro) n.3054T>C c.166T>C (p.Ser56Pro) n.2685T>C | |
| 1 | g.235806633A>T | CA344956930 | LYST | c.2503T>A (p.Ser835Thr) c.1906T>A (p.Ser636Thr) n.3054T>A c.166T>A (p.Ser56Thr) n.2685T>A | |
| 1 | g.235806634G>A | CA1467263 | LYST | c.2502C>T (p.Ala834=) c.1905C>T (p.Ala635=) n.3053C>T c.165C>T (p.Ala55=) n.2684C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235806634G>C | CA424027617 | LYST | c.2502C>G (p.Ala834=) c.1905C>G (p.Ala635=) n.3053C>G c.165C>G (p.Ala55=) n.2684C>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.235806634G= | CA2486650255 | LYST | c.2502C= (p.Ala834=) c.1905C= (p.Ala635=) n.3053C= c.165C= (p.Ala55=) n.2684C= | |
| 1 | g.235806634G>T | CA424027619 | LYST | c.2502C>A (p.Ala834=) c.1905C>A (p.Ala635=) n.3053C>A c.165C>A (p.Ala55=) n.2684C>A | |
| 1 | g.235806635G>A | CA344956936 | LYST | c.2501C>T (p.Ala834Val) c.1904C>T (p.Ala635Val) n.3052C>T c.164C>T (p.Ala55Val) n.2683C>T | dbSNP |
| 1 | g.235806635G>C | CA344956938 | LYST | c.2501C>G (p.Ala834Gly) c.1904C>G (p.Ala635Gly) n.3052C>G c.164C>G (p.Ala55Gly) n.2683C>G | |
| 1 | g.235806635G= | CA2486650256 | LYST | c.2501C= (p.Ala834=) c.1904C= (p.Ala635=) n.3052C= c.164C= (p.Ala55=) n.2683C= | |
| 1 | g.235806635G>T | CA344956940 | LYST | c.2501C>A (p.Ala834Asp) c.1904C>A (p.Ala635Asp) n.3052C>A c.164C>A (p.Ala55Asp) n.2683C>A | |
| 1 | g.235806636C>A | CA344956942 | LYST | c.2500G>T (p.Ala834Ser) c.1903G>T (p.Ala635Ser) n.3051G>T c.163G>T (p.Ala55Ser) n.2682G>T | gnomAD v4 |
| 1 | g.235806636C= | CA2486650257 | LYST | c.2500G= (p.Ala834=) c.1903G= (p.Ala635=) n.3051G= c.163G= (p.Ala55=) n.2682G= | |
| 1 | g.235806636C>G | CA344956946 | LYST | c.2500G>C (p.Ala834Pro) c.1903G>C (p.Ala635Pro) n.3051G>C c.163G>C (p.Ala55Pro) n.2682G>C | |
| 1 | g.235806636C>T | CA344956944 | LYST | c.2500G>A (p.Ala834Thr) c.1903G>A (p.Ala635Thr) n.3051G>A c.163G>A (p.Ala55Thr) n.2682G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.235806637A= | CA2486650258 | LYST | c.2499T= (p.Asp833=) c.1902T= (p.Asp634=) n.3050T= c.162T= (p.Asp54=) n.2681T= | |
| 1 | g.235806637A>C | CA344956949 | LYST | c.2499T>G (p.Asp833Glu) c.1902T>G (p.Asp634Glu) n.3050T>G c.162T>G (p.Asp54Glu) n.2681T>G | |
| 1 | g.235806637A>G | CA1467264 | LYST | c.2499T>C (p.Asp833=) c.1902T>C (p.Asp634=) n.3050T>C c.162T>C (p.Asp54=) n.2681T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |