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 |
|---|---|---|---|---|---|
| 2 | g.21037974_21037976dup | CA2493489278 | APOB | c.384-721_384-719dup (n.384-721_384-719dup) c.252-721_252-719dup (n.252-721_252-719dup) c.519_521dup (p.Ala173_Lys174insAsn) | dbSNP |
| 2 | g.21037975T>A | CA345962437 | APOB | c.384-720A>T (n.384-720A>T) c.252-720A>T (n.252-720A>T) c.520A>T (p.Lys174Ter) | |
| 2 | g.21037975T>C | CA345962439 | APOB | c.384-720A>G (n.384-720A>G) c.252-720A>G (n.252-720A>G) c.520A>G (p.Lys174Glu) | |
| 2 | g.21037975T>G | CA345962441 | APOB | c.384-720A>C (n.384-720A>C) c.252-720A>C (n.252-720A>C) c.520A>C (p.Lys174Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21037975T= | CA2493489279 | APOB | c.384-720A= (n.384-720A=) c.252-720A= (n.252-720A=) c.520A= (p.Lys174=) | |
| 2 | g.21037976G>A | CA425120966 | APOB | c.384-721C>T (n.384-721C>T) c.252-721C>T (n.252-721C>T) c.519C>T (p.Ala173=) | COSMIC |
| 2 | g.21037976G>C | CA425120967 | APOB | c.384-721C>G (n.384-721C>G) c.252-721C>G (n.252-721C>G) c.519C>G (p.Ala173=) | |
| 2 | g.21037976G>T | CA425120968 | APOB | c.384-721C>A (n.384-721C>A) c.252-721C>A (n.252-721C>A) c.519C>A (p.Ala173=) | |
| 2 | g.21037977G>A | CA345962443 | APOB | c.384-722C>T (n.384-722C>T) c.252-722C>T (n.252-722C>T) c.518C>T (p.Ala173Val) | gnomAD v4 |
| 2 | g.21037977G>C | CA345962446 | APOB | c.384-722C>G (n.384-722C>G) c.252-722C>G (n.252-722C>G) c.518C>G (p.Ala173Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21037977G= | CA2493489280 | APOB | c.384-722C= (n.384-722C=) c.252-722C= (n.252-722C=) c.518C= (p.Ala173=) | |
| 2 | g.21037977G>T | CA345962449 | APOB | c.384-722C>A (n.384-722C>A) c.252-722C>A (n.252-722C>A) c.518C>A (p.Ala173Asp) | COSMIC |
| 2 | g.21037978C>A | CA345962456 | APOB | c.384-723G>T (n.384-723G>T) c.252-723G>T (n.252-723G>T) c.517G>T (p.Ala173Ser) | |
| 2 | g.21037978C>G | CA345962454 | APOB | c.384-723G>C (n.384-723G>C) c.252-723G>C (n.252-723G>C) c.517G>C (p.Ala173Pro) | |
| 2 | g.21037978C>T | CA345962455 | APOB | c.384-723G>A (n.384-723G>A) c.252-723G>A (n.252-723G>A) c.517G>A (p.Ala173Thr) | |
| 2 | g.21037983_21037985del | CA2658048756 | APOB | c.384-725_384-723del (n.384-725_384-723del) c.252-725_252-723del (n.252-725_252-723del) c.515_517del (p.Glu172del) | gnomAD v4 |
| 2 | g.21037979T>A | CA345962457 | APOB | c.384-724A>T (n.384-724A>T) c.252-724A>T (n.252-724A>T) c.516A>T (p.Glu172Asp) | |
| 2 | g.21037979T>C | CA425120973 | APOB | c.384-724A>G (n.384-724A>G) c.252-724A>G (n.252-724A>G) c.516A>G (p.Glu172=) | |
| 2 | g.21037979T>G | CA345962458 | APOB | c.384-724A>C (n.384-724A>C) c.252-724A>C (n.252-724A>C) c.516A>C (p.Glu172Asp) | dbSNP |
| 2 | g.21037979T= | CA2493489282 | APOB | c.384-724A= (n.384-724A=) c.252-724A= (n.252-724A=) c.516A= (p.Glu172=) | |
| 2 | g.21037979_21037986delinsTTCTTCTG | CA2493489281 | APOB | c.384-731_384-724delinsCAGAAGAA (n.384-731_384-724delinsCAGAAGAA) c.252-731_252-724delinsCAGAAGAA (n.252-731_252-724delinsCAGAAGAA) c.509_516delinsCAGAAGAA (p.Thr170=) | |
| 2 | g.21037980T>A | CA345962459 | APOB | c.384-725A>T (n.384-725A>T) c.252-725A>T (n.252-725A>T) c.515A>T (p.Glu172Val) | |
| 2 | g.21037980T>C | CA345962461 | APOB | c.384-725A>G (n.384-725A>G) c.252-725A>G (n.252-725A>G) c.515A>G (p.Glu172Gly) | |
| 2 | g.21037980T>G | CA345962462 | APOB | c.384-725A>C (n.384-725A>C) c.252-725A>C (n.252-725A>C) c.515A>C (p.Glu172Ala) | |
| 2 | g.21037983_21037989del | CA915943733 | APOB | c.384-731_384-725del (n.384-731_384-725del) c.252-731_252-725del (n.252-731_252-725del) c.509_515del (p.Thr170LysfsTer?) | ClinVar dbSNP |
| 2 | g.21037981C>A | CA345962466 | APOB | c.384-726G>T (n.384-726G>T) c.252-726G>T (n.252-726G>T) c.514G>T (p.Glu172Ter) | dbSNP |
| 2 | g.21037981C= | CA2493489283 | APOB | c.384-726G= (n.384-726G=) c.252-726G= (n.252-726G=) c.514G= (p.Glu172=) | |
| 2 | g.21037981C>G | CA345962467 | APOB | c.384-726G>C (n.384-726G>C) c.252-726G>C (n.252-726G>C) c.514G>C (p.Glu172Gln) | |
| 2 | g.21037981C>T | CA345962469 | APOB | c.384-726G>A (n.384-726G>A) c.252-726G>A (n.252-726G>A) c.514G>A (p.Glu172Lys) | |
| 2 | g.21037982T>A | CA345962470 | APOB | c.384-727A>T (n.384-727A>T) c.252-727A>T (n.252-727A>T) c.513A>T (p.Glu171Asp) | |
| 2 | g.21037982T>C | CA425120975 | APOB | c.384-727A>G (n.384-727A>G) c.252-727A>G (n.252-727A>G) c.513A>G (p.Glu171=) | |
| 2 | g.21037982T>G | CA345962471 | APOB | c.384-727A>C (n.384-727A>C) c.252-727A>C (n.252-727A>C) c.513A>C (p.Glu171Asp) | |
| 2 | g.21037983T>A | CA345962472 | APOB | c.384-728A>T (n.384-728A>T) c.252-728A>T (n.252-728A>T) c.512A>T (p.Glu171Val) | |
| 2 | g.21037983T>C | CA345962473 | APOB | c.384-728A>G (n.384-728A>G) c.252-728A>G (n.252-728A>G) c.512A>G (p.Glu171Gly) | |
| 2 | g.21037983T>G | CA345962474 | APOB | c.384-728A>C (n.384-728A>C) c.252-728A>C (n.252-728A>C) c.512A>C (p.Glu171Ala) | |
| 2 | g.21037984C>A | CA345962475 | APOB | c.384-729G>T (n.384-729G>T) c.252-729G>T (n.252-729G>T) c.511G>T (p.Glu171Ter) | |
| 2 | g.21037984C>G | CA345962479 | APOB | c.384-729G>C (n.384-729G>C) c.252-729G>C (n.252-729G>C) c.511G>C (p.Glu171Gln) | |
| 2 | g.21037984C>T | CA345962476 | APOB | c.384-729G>A (n.384-729G>A) c.252-729G>A (n.252-729G>A) c.511G>A (p.Glu171Lys) | |
| 2 | g.21037985T>A | CA425120978 | APOB | c.384-730A>T (n.384-730A>T) c.252-730A>T (n.252-730A>T) c.510A>T (p.Thr170=) | |
| 2 | g.21037985T>C | CA425120979 | APOB | c.384-730A>G (n.384-730A>G) c.252-730A>G (n.252-730A>G) c.510A>G (p.Thr170=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21037985T>G | CA425120980 | APOB | c.384-730A>C (n.384-730A>C) c.252-730A>C (n.252-730A>C) c.510A>C (p.Thr170=) | dbSNP |
| 2 | g.21037985T= | CA2493489284 | APOB | c.384-730A= (n.384-730A=) c.252-730A= (n.252-730A=) c.510A= (p.Thr170=) | |
| 2 | g.21037986G>A | CA345962481 | APOB | c.384-731C>T (n.384-731C>T) c.252-731C>T (n.252-731C>T) c.509C>T (p.Thr170Ile) | |
| 2 | g.21037986G>C | CA345962482 | APOB | c.384-731C>G (n.384-731C>G) c.252-731C>G (n.252-731C>G) c.509C>G (p.Thr170Arg) | |
| 2 | g.21037986G>T | CA345962484 | APOB | c.384-731C>A (n.384-731C>A) c.252-731C>A (n.252-731C>A) c.509C>A (p.Thr170Lys) | |
| 2 | g.21037987T>A | CA061645 | APOB | c.384-732A>T (n.384-732A>T) c.252-732A>T (n.252-732A>T) c.508A>T (p.Thr170Ser) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 2 | g.21037987T>C | CA345962489 | APOB | c.384-732A>G (n.384-732A>G) c.252-732A>G (n.252-732A>G) c.508A>G (p.Thr170Ala) | |
| 2 | g.21037987T>G | CA345962494 | APOB | c.384-732A>C (n.384-732A>C) c.252-732A>C (n.252-732A>C) c.508A>C (p.Thr170Pro) | |
| 2 | g.21037987T= | CA2493489285 | APOB | c.384-732A= (n.384-732A=) c.252-732A= (n.252-732A=) c.508A= (p.Thr170=) | |
| 2 | g.21037988C>A | CA345962495 | APOB | c.384-733G>T (n.384-733G>T) c.252-733G>T (n.252-733G>T) c.507G>T (p.Glu169Asp) |