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 |
|---|---|---|---|---|---|
| 16 | g.56894563C>A | CA395997358 | SLC12A3 | c.2554C>A (p.Arg852Ser) c.2551C>A (p.Arg851Ser) c.2581C>A (p.Arg861Ser) c.2578C>A (p.Arg860Ser) | dbSNP |
| 16 | g.56894563C= | CA2224361224 | SLC12A3 | c.2554C= (p.Arg852=) c.2551C= (p.Arg851=) c.2581C= (p.Arg861=) c.2578C= (p.Arg860=) | |
| 16 | g.56894563C>G | CA395997362 | SLC12A3 | c.2554C>G (p.Arg852Gly) c.2551C>G (p.Arg851Gly) c.2581C>G (p.Arg861Gly) c.2578C>G (p.Arg860Gly) | |
| 16 | g.56894563C>T | CA8069966 | SLC12A3 | c.2554C>T (p.Arg852Cys) c.2551C>T (p.Arg851Cys) c.2581C>T (p.Arg861Cys) c.2578C>T (p.Arg860Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56894564G>A | CA8069967 | SLC12A3 | c.2555G>A (p.Arg852His) c.2552G>A (p.Arg851His) c.2582G>A (p.Arg861His) c.2579G>A (p.Arg860His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56894564G>C | CA395997375 | SLC12A3 | c.2555G>C (p.Arg852Pro) c.2552G>C (p.Arg851Pro) c.2582G>C (p.Arg861Pro) c.2579G>C (p.Arg860Pro) | |
| 16 | g.56894564G= | CA2224361225 | SLC12A3 | c.2555G= (p.Arg852=) c.2552G= (p.Arg851=) c.2582G= (p.Arg861=) c.2579G= (p.Arg860=) | |
| 16 | g.56894564G>T | CA395997370 | SLC12A3 | c.2555G>T (p.Arg852Leu) c.2552G>T (p.Arg851Leu) c.2582G>T (p.Arg861Leu) c.2579G>T (p.Arg860Leu) | dbSNP gnomAD v4 |
| 16 | g.56894565C>A | CA495612752 | SLC12A3 | c.2556C>A (p.Arg852=) c.2553C>A (p.Arg851=) c.2583C>A (p.Arg861=) c.2580C>A (p.Arg860=) | gnomAD v4 |
| 16 | g.56894565C>G | CA495612753 | SLC12A3 | c.2556C>G (p.Arg852=) c.2553C>G (p.Arg851=) c.2583C>G (p.Arg861=) c.2580C>G (p.Arg860=) | |
| 16 | g.56894565C>T | CA495612754 | SLC12A3 | c.2556C>T (p.Arg852=) c.2553C>T (p.Arg851=) c.2583C>T (p.Arg861=) c.2580C>T (p.Arg860=) | |
| 16 | g.56894566A= | CA2224361226 | SLC12A3 | c.2557A= (p.Lys853=) c.2554A= (p.Lys852=) c.2584A= (p.Lys862=) c.2581A= (p.Lys861=) | |
| 16 | g.56894566A>C | CA395997377 | SLC12A3 | c.2557A>C (p.Lys853Gln) c.2554A>C (p.Lys852Gln) c.2584A>C (p.Lys862Gln) c.2581A>C (p.Lys861Gln) | |
| 16 | g.56894566A>G | CA395997379 | SLC12A3 | c.2557A>G (p.Lys853Glu) c.2554A>G (p.Lys852Glu) c.2584A>G (p.Lys862Glu) c.2581A>G (p.Lys861Glu) | dbSNP gnomAD v4 |
| 16 | g.56894566A>T | CA395997381 | SLC12A3 | c.2557A>T (p.Lys853Ter) c.2554A>T (p.Lys852Ter) c.2584A>T (p.Lys862Ter) c.2581A>T (p.Lys861Ter) | |
| 16 | g.56894567A>C | CA395997383 | SLC12A3 | c.2558A>C (p.Lys853Thr) c.2555A>C (p.Lys852Thr) c.2585A>C (p.Lys862Thr) c.2582A>C (p.Lys861Thr) | |
| 16 | g.56894567A>G | CA395997386 | SLC12A3 | c.2558A>G (p.Lys853Arg) c.2555A>G (p.Lys852Arg) c.2585A>G (p.Lys862Arg) c.2582A>G (p.Lys861Arg) | |
| 16 | g.56894567A>T | CA395997388 | SLC12A3 | c.2558A>T (p.Lys853Met) c.2555A>T (p.Lys852Met) c.2585A>T (p.Lys862Met) c.2582A>T (p.Lys861Met) | |
| 16 | g.56894568G>A | CA8069968 | SLC12A3 | c.2559G>A (p.Lys853=) c.2556G>A (p.Lys852=) c.2586G>A (p.Lys862=) c.2583G>A (p.Lys861=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56894568G>C | CA395997393 | SLC12A3 | c.2559G>C (p.Lys853Asn) c.2556G>C (p.Lys852Asn) c.2586G>C (p.Lys862Asn) c.2583G>C (p.Lys861Asn) | |
| 16 | g.56894568G= | CA2224361227 | SLC12A3 | c.2559G= (p.Lys853=) c.2556G= (p.Lys852=) c.2586G= (p.Lys862=) c.2583G= (p.Lys861=) | |
| 16 | g.56894568G>T | CA395997396 | SLC12A3 | c.2559G>T (p.Lys853Asn) c.2556G>T (p.Lys852Asn) c.2586G>T (p.Lys862Asn) c.2583G>T (p.Lys861Asn) | |
| 16 | g.56894569A= | CA2224361228 | SLC12A3 | c.2560A= (p.Arg854=) c.2557A= (p.Arg853=) c.2587A= (p.Arg863=) c.2584A= (p.Arg862=) | |
| 16 | g.56894569A>C | CA495612755 | SLC12A3 | c.2560A>C (p.Arg854=) c.2557A>C (p.Arg853=) c.2587A>C (p.Arg863=) c.2584A>C (p.Arg862=) | |
| 16 | g.56894569A>G | CA395997399 | SLC12A3 | c.2560A>G (p.Arg854Gly) c.2557A>G (p.Arg853Gly) c.2587A>G (p.Arg863Gly) c.2584A>G (p.Arg862Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56894569A>T | CA395997402 | SLC12A3 | c.2560A>T (p.Arg854Trp) c.2557A>T (p.Arg853Trp) c.2587A>T (p.Arg863Trp) c.2584A>T (p.Arg862Trp) | |
| 16 | g.56894570G>A | CA281514318 | SLC12A3 | c.2561G>A (p.Arg854Lys) c.2558G>A (p.Arg853Lys) c.2588G>A (p.Arg863Lys) c.2585G>A (p.Arg862Lys) | dbSNP |
| 16 | g.56894570G>C | CA395997408 | SLC12A3 | c.2561G>C (p.Arg854Thr) c.2558G>C (p.Arg853Thr) c.2588G>C (p.Arg863Thr) c.2585G>C (p.Arg862Thr) | |
| 16 | g.56894570G= | CA2224361229 | SLC12A3 | c.2561G= (p.Arg854=) c.2558G= (p.Arg853=) c.2588G= (p.Arg863=) c.2585G= (p.Arg862=) | |
| 16 | g.56894570G>T | CA395997406 | SLC12A3 | c.2561G>T (p.Arg854Met) c.2558G>T (p.Arg853Met) c.2588G>T (p.Arg863Met) c.2585G>T (p.Arg862Met) | |
| 16 | g.56894571G>A | CA495612756 | SLC12A3 | c.2562G>A (p.Arg854=) c.2559G>A (p.Arg853=) c.2589G>A (p.Arg863=) c.2586G>A (p.Arg862=) | ClinVar dbSNP |
| 16 | g.56894571G>C | CA395997409 | SLC12A3 | c.2562G>C (p.Arg854Ser) c.2559G>C (p.Arg853Ser) c.2589G>C (p.Arg863Ser) c.2586G>C (p.Arg862Ser) | |
| 16 | g.56894571G= | CA2224361230 | SLC12A3 | c.2562G= (p.Arg854=) c.2559G= (p.Arg853=) c.2589G= (p.Arg863=) c.2586G= (p.Arg862=) | |
| 16 | g.56894571G>T | CA395997410 | SLC12A3 | c.2562G>T (p.Arg854Ser) c.2559G>T (p.Arg853Ser) c.2589G>T (p.Arg863Ser) c.2586G>T (p.Arg862Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56894572A= | CA2224361231 | SLC12A3 | c.2563A= (p.Arg855=) c.2560A= (p.Arg854=) c.2590A= (p.Arg864=) c.2587A= (p.Arg863=) | |
| 16 | g.56894572A>C | CA495612757 | SLC12A3 | c.2563A>C (p.Arg855=) c.2560A>C (p.Arg854=) c.2590A>C (p.Arg864=) c.2587A>C (p.Arg863=) | ClinVar dbSNP |
| 16 | g.56894572A>G | CA281514326 | SLC12A3 | c.2563A>G (p.Arg855Gly) c.2560A>G (p.Arg854Gly) c.2590A>G (p.Arg864Gly) c.2587A>G (p.Arg863Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56894572A>T | CA395997411 | SLC12A3 | c.2563A>T (p.Arg855Trp) c.2560A>T (p.Arg854Trp) c.2590A>T (p.Arg864Trp) c.2587A>T (p.Arg863Trp) | |
| 16 | g.56894573G>A | CA8069969 | SLC12A3 | c.2564G>A (p.Arg855Lys) c.2561G>A (p.Arg854Lys) c.2591G>A (p.Arg864Lys) c.2588G>A (p.Arg863Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56894573G>C | CA395997413 | SLC12A3 | c.2564G>C (p.Arg855Thr) c.2561G>C (p.Arg854Thr) c.2591G>C (p.Arg864Thr) c.2588G>C (p.Arg863Thr) | |
| 16 | g.56894573G= | CA2224361232 | SLC12A3 | c.2564G= (p.Arg855=) c.2561G= (p.Arg854=) c.2591G= (p.Arg864=) c.2588G= (p.Arg863=) | |
| 16 | g.56894573G>T | CA395997414 | SLC12A3 | c.2564G>T (p.Arg855Met) c.2561G>T (p.Arg854Met) c.2591G>T (p.Arg864Met) c.2588G>T (p.Arg863Met) | |
| 16 | g.56894574G>A | CA495612758 | SLC12A3 | c.2565G>A (p.Arg855=) c.2562G>A (p.Arg854=) c.2592G>A (p.Arg864=) c.2589G>A (p.Arg863=) | gnomAD v4 |
| 16 | g.56894574G>C | CA395997416 | SLC12A3 | c.2565G>C (p.Arg855Ser) c.2562G>C (p.Arg854Ser) c.2592G>C (p.Arg864Ser) c.2589G>C (p.Arg863Ser) | |
| 16 | g.56894574G>T | CA395997417 | SLC12A3 | c.2565G>T (p.Arg855Ser) c.2562G>T (p.Arg854Ser) c.2592G>T (p.Arg864Ser) c.2589G>T (p.Arg863Ser) | |
| 16 | g.56894575T>A | CA395997418 | SLC12A3 | c.2566T>A (p.Trp856Arg) c.2563T>A (p.Trp855Arg) c.2593T>A (p.Trp865Arg) c.2590T>A (p.Trp864Arg) | |
| 16 | g.56894575T>C | CA395997419 | SLC12A3 | c.2566T>C (p.Trp856Arg) c.2563T>C (p.Trp855Arg) c.2593T>C (p.Trp865Arg) c.2590T>C (p.Trp864Arg) | |
| 16 | g.56894575T>G | CA395997420 | SLC12A3 | c.2566T>G (p.Trp856Gly) c.2563T>G (p.Trp855Gly) c.2593T>G (p.Trp865Gly) c.2590T>G (p.Trp864Gly) | |
| 16 | g.56894576G>A | CA395997421 | SLC12A3 | c.2567G>A (p.Trp856Ter) c.2564G>A (p.Trp855Ter) c.2594G>A (p.Trp865Ter) c.2591G>A (p.Trp864Ter) | |
| 16 | g.56894576G>C | CA395997423 | SLC12A3 | c.2567G>C (p.Trp856Ser) c.2564G>C (p.Trp855Ser) c.2594G>C (p.Trp865Ser) c.2591G>C (p.Trp864Ser) |