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.108208852T>A | CA388613220 | LIG4 | c.2216A>T (p.Asp739Val) c.2417A>T (p.Asp806Val) c.2453A>T (p.Asp818Val) c.2429A>T (p.Asp810Val) | dbSNP |
| 13 | g.108208852T>C | CA7043509 | LIG4 | c.2216A>G (p.Asp739Gly) c.2417A>G (p.Asp806Gly) c.2453A>G (p.Asp818Gly) c.2429A>G (p.Asp810Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.108208852T>G | CA388613222 | LIG4 | c.2216A>C (p.Asp739Ala) c.2417A>C (p.Asp806Ala) c.2453A>C (p.Asp818Ala) c.2429A>C (p.Asp810Ala) | |
| 13 | g.108208852T= | CA2117793949 | LIG4 | c.2216A= (p.Asp739=) c.2417A= (p.Asp806=) c.2453A= (p.Asp818=) c.2429A= (p.Asp810=) | |
| 13 | g.108208853C>A | CA388613227 | LIG4 | c.2215G>T (p.Asp739Tyr) c.2416G>T (p.Asp806Tyr) c.2452G>T (p.Asp818Tyr) c.2428G>T (p.Asp810Tyr) | |
| 13 | g.108208853C>G | CA388613226 | LIG4 | c.2215G>C (p.Asp739His) c.2416G>C (p.Asp806His) c.2452G>C (p.Asp818His) c.2428G>C (p.Asp810His) | |
| 13 | g.108208853C>T | CA388613224 | LIG4 | c.2215G>A (p.Asp739Asn) c.2416G>A (p.Asp806Asn) c.2452G>A (p.Asp818Asn) c.2428G>A (p.Asp810Asn) | |
| 13 | g.108208854C>A | CA388613229 | LIG4 | c.2214G>T (p.Trp738Cys) c.2415G>T (p.Trp805Cys) c.2451G>T (p.Trp817Cys) c.2427G>T (p.Trp809Cys) | |
| 13 | g.108208854C>G | CA388613231 | LIG4 | c.2214G>C (p.Trp738Cys) c.2415G>C (p.Trp805Cys) c.2451G>C (p.Trp817Cys) c.2427G>C (p.Trp809Cys) | |
| 13 | g.108208854C>T | CA388613232 | LIG4 | c.2214G>A (p.Trp738Ter) c.2415G>A (p.Trp805Ter) c.2451G>A (p.Trp817Ter) c.2427G>A (p.Trp809Ter) | |
| 13 | g.108208855C>A | CA388613234 | LIG4 | c.2213G>T (p.Trp738Leu) c.2414G>T (p.Trp805Leu) c.2450G>T (p.Trp817Leu) c.2426G>T (p.Trp809Leu) | |
| 13 | g.108208855C>G | CA388613235 | LIG4 | c.2213G>C (p.Trp738Ser) c.2414G>C (p.Trp805Ser) c.2450G>C (p.Trp817Ser) c.2426G>C (p.Trp809Ser) | |
| 13 | g.108208855C>T | CA388613237 | LIG4 | c.2213G>A (p.Trp738Ter) c.2414G>A (p.Trp805Ter) c.2450G>A (p.Trp817Ter) c.2426G>A (p.Trp809Ter) | |
| 13 | g.108208856A>C | CA388613239 | LIG4 | c.2212T>G (p.Trp738Gly) c.2413T>G (p.Trp805Gly) c.2449T>G (p.Trp817Gly) c.2425T>G (p.Trp809Gly) | |
| 13 | g.108208856A>G | CA388613240 | LIG4 | c.2212T>C (p.Trp738Arg) c.2413T>C (p.Trp805Arg) c.2449T>C (p.Trp817Arg) c.2425T>C (p.Trp809Arg) | |
| 13 | g.108208856A>T | CA388613242 | LIG4 | c.2212T>A (p.Trp738Arg) c.2413T>A (p.Trp805Arg) c.2449T>A (p.Trp817Arg) c.2425T>A (p.Trp809Arg) | |
| 13 | g.108208857G>A | CA484975233 | LIG4 | c.2211C>T (p.Ser737=) c.2412C>T (p.Ser804=) c.2448C>T (p.Ser816=) c.2424C>T (p.Ser808=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.108208857G>C | CA484975235 | LIG4 | c.2211C>G (p.Ser737=) c.2412C>G (p.Ser804=) c.2448C>G (p.Ser816=) c.2424C>G (p.Ser808=) | |
| 13 | g.108208857G= | CA2117793950 | LIG4 | c.2211C= (p.Ser737=) c.2412C= (p.Ser804=) c.2448C= (p.Ser816=) c.2424C= (p.Ser808=) | |
| 13 | g.108208857G>T | CA484975237 | LIG4 | c.2211C>A (p.Ser737=) c.2412C>A (p.Ser804=) c.2448C>A (p.Ser816=) c.2424C>A (p.Ser808=) | |
| 13 | g.108208858G>A | CA388613244 | LIG4 | c.2210C>T (p.Ser737Phe) c.2411C>T (p.Ser804Phe) c.2447C>T (p.Ser816Phe) c.2423C>T (p.Ser808Phe) | gnomAD v4 |
| 13 | g.108208858G>C | CA388613245 | LIG4 | c.2210C>G (p.Ser737Cys) c.2411C>G (p.Ser804Cys) c.2447C>G (p.Ser816Cys) c.2423C>G (p.Ser808Cys) | gnomAD v4 |
| 13 | g.108208858G>T | CA388613247 | LIG4 | c.2210C>A (p.Ser737Tyr) c.2411C>A (p.Ser804Tyr) c.2447C>A (p.Ser816Tyr) c.2423C>A (p.Ser808Tyr) | |
| 13 | g.108208859A>C | CA388613252 | LIG4 | c.2209T>G (p.Ser737Ala) c.2410T>G (p.Ser804Ala) c.2446T>G (p.Ser816Ala) c.2422T>G (p.Ser808Ala) | COSMIC |
| 13 | g.108208859A>G | CA388613250 | LIG4 | c.2209T>C (p.Ser737Pro) c.2410T>C (p.Ser804Pro) c.2446T>C (p.Ser816Pro) c.2422T>C (p.Ser808Pro) | |
| 13 | g.108208859A>T | CA388613248 | LIG4 | c.2209T>A (p.Ser737Thr) c.2410T>A (p.Ser804Thr) c.2446T>A (p.Ser816Thr) c.2422T>A (p.Ser808Thr) | |
| 13 | g.108208859_108208868del | CA2499221942 | LIG4 | c.2200_2209del (p.Tyr734ProfsTer26) c.2401_2410del (p.Tyr801ProfsTer26) c.2437_2446del (p.Tyr813ProfsTer26) c.2413_2422del (p.Tyr805ProfsTer26) | ClinVar dbSNP |
| 13 | g.108208860A>C | CA388613254 | LIG4 | c.2208T>G (p.Tyr736Ter) c.2409T>G (p.Tyr803Ter) c.2445T>G (p.Tyr815Ter) c.2421T>G (p.Tyr807Ter) | |
| 13 | g.108208860A>G | CA484975243 | LIG4 | c.2208T>C (p.Tyr736=) c.2409T>C (p.Tyr803=) c.2445T>C (p.Tyr815=) c.2421T>C (p.Tyr807=) | ClinVar |
| 13 | g.108208860A>T | CA388613255 | LIG4 | c.2208T>A (p.Tyr736Ter) c.2409T>A (p.Tyr803Ter) c.2445T>A (p.Tyr815Ter) c.2421T>A (p.Tyr807Ter) | |
| 13 | g.108208861T>A | CA388613256 | LIG4 | c.2207A>T (p.Tyr736Phe) c.2408A>T (p.Tyr803Phe) c.2444A>T (p.Tyr815Phe) c.2420A>T (p.Tyr807Phe) | |
| 13 | g.108208861T>C | CA388613257 | LIG4 | c.2207A>G (p.Tyr736Cys) c.2408A>G (p.Tyr803Cys) c.2444A>G (p.Tyr815Cys) c.2420A>G (p.Tyr807Cys) | gnomAD v4 |
| 13 | g.108208861T>G | CA388613258 | LIG4 | c.2207A>C (p.Tyr736Ser) c.2408A>C (p.Tyr803Ser) c.2444A>C (p.Tyr815Ser) c.2420A>C (p.Tyr807Ser) | |
| 13 | g.108208862A= | CA2117793951 | LIG4 | c.2206T= (p.Tyr736=) c.2407T= (p.Tyr803=) c.2443T= (p.Tyr815=) c.2419T= (p.Tyr807=) | |
| 13 | g.108208862A>C | CA388613260 | LIG4 | c.2206T>G (p.Tyr736Asp) c.2407T>G (p.Tyr803Asp) c.2443T>G (p.Tyr815Asp) c.2419T>G (p.Tyr807Asp) | dbSNP gnomAD v4 |
| 13 | g.108208862A>G | CA388613262 | LIG4 | c.2206T>C (p.Tyr736His) c.2407T>C (p.Tyr803His) c.2443T>C (p.Tyr815His) c.2419T>C (p.Tyr807His) | gnomAD v4 |
| 13 | g.108208862A>T | CA388613264 | LIG4 | c.2206T>A (p.Tyr736Asn) c.2407T>A (p.Tyr803Asn) c.2443T>A (p.Tyr815Asn) c.2419T>A (p.Tyr807Asn) | |
| 13 | g.108208863C>A | CA484975245 | LIG4 | c.2205G>T (p.Arg735=) c.2406G>T (p.Arg802=) c.2442G>T (p.Arg814=) c.2418G>T (p.Arg806=) | gnomAD v4 |
| 13 | g.108208863C>G | CA484975247 | LIG4 | c.2205G>C (p.Arg735=) c.2406G>C (p.Arg802=) c.2442G>C (p.Arg814=) c.2418G>C (p.Arg806=) | |
| 13 | g.108208863C>T | CA484975248 | LIG4 | c.2205G>A (p.Arg735=) c.2406G>A (p.Arg802=) c.2442G>A (p.Arg814=) c.2418G>A (p.Arg806=) | |
| 13 | g.108208864C>A | CA388613265 | LIG4 | c.2204G>T (p.Arg735Leu) c.2405G>T (p.Arg802Leu) c.2441G>T (p.Arg814Leu) c.2417G>T (p.Arg806Leu) | |
| 13 | g.108208864C= | CA2117793952 | LIG4 | c.2204G= (p.Arg735=) c.2405G= (p.Arg802=) c.2441G= (p.Arg814=) c.2417G= (p.Arg806=) | |
| 13 | g.108208864C>G | CA388613267 | LIG4 | c.2204G>C (p.Arg735Pro) c.2405G>C (p.Arg802Pro) c.2441G>C (p.Arg814Pro) c.2417G>C (p.Arg806Pro) | |
| 13 | g.108208864C>T | CA7043510 | LIG4 | c.2204G>A (p.Arg735Gln) c.2405G>A (p.Arg802Gln) c.2441G>A (p.Arg814Gln) c.2417G>A (p.Arg806Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.108208865G>A | CA7043511 | LIG4 | c.2203C>T (p.Arg735Trp) c.2404C>T (p.Arg802Trp) c.2440C>T (p.Arg814Trp) c.2416C>T (p.Arg806Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.108208865G>C | CA388613269 | LIG4 | c.2203C>G (p.Arg735Gly) c.2404C>G (p.Arg802Gly) c.2440C>G (p.Arg814Gly) c.2416C>G (p.Arg806Gly) | |
| 13 | g.108208865G= | CA2117793953 | LIG4 | c.2203C= (p.Arg735=) c.2404C= (p.Arg802=) c.2440C= (p.Arg814=) c.2416C= (p.Arg806=) | |
| 13 | g.108208865G>T | CA484975250 | LIG4 | c.2203C>A (p.Arg735=) c.2404C>A (p.Arg802=) c.2440C>A (p.Arg814=) c.2416C>A (p.Arg806=) | gnomAD v4 |
| 13 | g.108208866A>C | CA388613271 | LIG4 | c.2202T>G (p.Tyr734Ter) c.2403T>G (p.Tyr801Ter) c.2439T>G (p.Tyr813Ter) c.2415T>G (p.Tyr805Ter) | |
| 13 | g.108208866A>G | CA484975252 | LIG4 | c.2202T>C (p.Tyr734=) c.2403T>C (p.Tyr801=) c.2439T>C (p.Tyr813=) c.2415T>C (p.Tyr805=) |