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 |
|---|---|---|---|---|---|
| 8 | g.142914404G>A | CA126949 | CYP11B2,GML | c.814C>T (p.Gln272Ter) c.264+359G>A (n.264+359G>A) c.892C>T (p.Gln298Ter) c.297+359G>A (n.297+359G>A) | ClinVar dbSNP |
| 8 | g.142914404G>C | CA372388949 | CYP11B2,GML | c.814C>G (p.Gln272Glu) c.264+359G>C (n.264+359G>C) c.892C>G (p.Gln298Glu) c.297+359G>C (n.297+359G>C) | |
| 8 | g.142914404G= | CA1825515523 | CYP11B2,GML | c.814C= (p.Gln272=) c.264+359G= (n.264+359G=) c.892C= (p.Gln298=) c.297+359G= (n.297+359G=) | |
| 8 | g.142914404G>T | CA372388950 | CYP11B2,GML | c.814C>A (p.Gln272Lys) c.264+359G>T (n.264+359G>T) c.892C>A (p.Gln298Lys) c.297+359G>T (n.297+359G>T) | |
| 8 | g.142914405G>A | CA463506284 | CYP11B2,GML | c.813C>T (p.Ile271=) c.264+360G>A (n.264+360G>A) c.891C>T (p.Ile297=) c.297+360G>A (n.297+360G>A) | ClinVar dbSNP gnomAD v4 |
| 8 | g.142914405G>C | CA372388951 | CYP11B2,GML | c.813C>G (p.Ile271Met) c.264+360G>C (n.264+360G>C) c.891C>G (p.Ile297Met) c.297+360G>C (n.297+360G>C) | |
| 8 | g.142914405G>T | CA463506285 | CYP11B2,GML | c.813C>A (p.Ile271=) c.264+360G>T (n.264+360G>T) c.891C>A (p.Ile297=) c.297+360G>T (n.297+360G>T) | |
| 8 | g.142914406A= | CA1825515524 | CYP11B2,GML | c.812T= (p.Ile271=) c.264+361A= (n.264+361A=) c.890T= (p.Ile297=) c.297+361A= (n.297+361A=) | |
| 8 | g.142914406A>C | CA372388952 | CYP11B2,GML | c.812T>G (p.Ile271Ser) c.264+361A>C (n.264+361A>C) c.890T>G (p.Ile297Ser) c.297+361A>C (n.297+361A>C) | |
| 8 | g.142914406A>G | CA372388954 | CYP11B2,GML | c.812T>C (p.Ile271Thr) c.264+361A>G (n.264+361A>G) c.890T>C (p.Ile297Thr) c.297+361A>G (n.297+361A>G) | dbSNP |
| 8 | g.142914406A>T | CA372388956 | CYP11B2,GML | c.812T>A (p.Ile271Asn) c.264+361A>T (n.264+361A>T) c.890T>A (p.Ile297Asn) c.297+361A>T (n.297+361A>T) | |
| 8 | g.142914407T>A | CA372388960 | CYP11B2,GML | c.811A>T (p.Ile271Phe) c.264+362T>A (n.264+362T>A) c.889A>T (p.Ile297Phe) c.297+362T>A (n.297+362T>A) | |
| 8 | g.142914407T>C | CA372388962 | CYP11B2,GML | c.811A>G (p.Ile271Val) c.264+362T>C (n.264+362T>C) c.889A>G (p.Ile297Val) c.297+362T>C (n.297+362T>C) | gnomAD v4 |
| 8 | g.142914407T>G | CA372388958 | CYP11B2,GML | c.811A>C (p.Ile271Leu) c.264+362T>G (n.264+362T>G) c.889A>C (p.Ile297Leu) c.297+362T>G (n.297+362T>G) | |
| 8 | g.142914408A>C | CA372388966 | CYP11B2,GML | c.810T>G (p.Cys270Trp) c.264+363A>C (n.264+363A>C) c.888T>G (p.Cys296Trp) c.297+363A>C (n.297+363A>C) | |
| 8 | g.142914408A>G | CA463506286 | CYP11B2,GML | c.810T>C (p.Cys270=) c.264+363A>G (n.264+363A>G) c.888T>C (p.Cys296=) c.297+363A>G (n.297+363A>G) | |
| 8 | g.142914408A>T | CA372388965 | CYP11B2,GML | c.810T>A (p.Cys270Ter) c.264+363A>T (n.264+363A>T) c.888T>A (p.Cys296Ter) c.297+363A>T (n.297+363A>T) | |
| 8 | g.142914409C>A | CA372388970 | CYP11B2,GML | c.809G>T (p.Cys270Phe) c.264+364C>A (n.264+364C>A) c.887G>T (p.Cys296Phe) c.297+364C>A (n.297+364C>A) | gnomAD v4 |
| 8 | g.142914409C= | CA1825515525 | CYP11B2,GML | c.809G= (p.Cys270=) c.264+364C= (n.264+364C=) c.887G= (p.Cys296=) c.297+364C= (n.297+364C=) | |
| 8 | g.142914409C>G | CA372388968 | CYP11B2,GML | c.809G>C (p.Cys270Ser) c.264+364C>G (n.264+364C>G) c.887G>C (p.Cys296Ser) c.297+364C>G (n.297+364C>G) | gnomAD v4 |
| 8 | g.142914409C>T | CA4906062 | CYP11B2,GML | c.809G>A (p.Cys270Tyr) c.264+364C>T (n.264+364C>T) c.887G>A (p.Cys296Tyr) c.297+364C>T (n.297+364C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.142914410A= | CA1825515526 | CYP11B2,GML | c.808T= (p.Cys270=) c.264+365A= (n.264+365A=) c.886T= (p.Cys296=) c.297+365A= (n.297+365A=) | |
| 8 | g.142914410A>C | CA372388973 | CYP11B2,GML | c.808T>G (p.Cys270Gly) c.264+365A>C (n.264+365A>C) c.886T>G (p.Cys296Gly) c.297+365A>C (n.297+365A>C) | |
| 8 | g.142914410A>G | CA372388975 | CYP11B2,GML | c.808T>C (p.Cys270Arg) c.264+365A>G (n.264+365A>G) c.886T>C (p.Cys296Arg) c.297+365A>G (n.297+365A>G) | |
| 8 | g.142914410A>T | CA372388976 | CYP11B2,GML | c.808T>A (p.Cys270Ser) c.264+365A>T (n.264+365A>T) c.886T>A (p.Cys296Ser) c.297+365A>T (n.297+365A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.142914411G>A | CA463506287 | CYP11B2,GML | c.807C>T (p.Asn269=) c.264+366G>A (n.264+366G>A) c.885C>T (p.Asn295=) c.297+366G>A (n.297+366G>A) | |
| 8 | g.142914411G>C | CA372388978 | CYP11B2,GML | c.807C>G (p.Asn269Lys) c.264+366G>C (n.264+366G>C) c.885C>G (p.Asn295Lys) c.297+366G>C (n.297+366G>C) | dbSNP |
| 8 | g.142914411G= | CA1825515527 | CYP11B2,GML | c.807C= (p.Asn269=) c.264+366G= (n.264+366G=) c.885C= (p.Asn295=) c.297+366G= (n.297+366G=) | |
| 8 | g.142914411G>T | CA372388980 | CYP11B2,GML | c.807C>A (p.Asn269Lys) c.264+366G>T (n.264+366G>T) c.885C>A (p.Asn295Lys) c.297+366G>T (n.297+366G>T) | |
| 8 | g.142914412T>A | CA372388981 | CYP11B2,GML | c.806A>T (p.Asn269Ile) c.264+367T>A (n.264+367T>A) c.884A>T (p.Asn295Ile) c.297+367T>A (n.297+367T>A) | |
| 8 | g.142914412T>C | CA372388983 | CYP11B2,GML | c.806A>G (p.Asn269Ser) c.264+367T>C (n.264+367T>C) c.884A>G (p.Asn295Ser) c.297+367T>C (n.297+367T>C) | |
| 8 | g.142914412T>G | CA372388984 | CYP11B2,GML | c.806A>C (p.Asn269Thr) c.264+367T>G (n.264+367T>G) c.884A>C (p.Asn295Thr) c.297+367T>G (n.297+367T>G) | |
| 8 | g.142914413T>A | CA372388986 | CYP11B2,GML | c.805A>T (p.Asn269Tyr) c.264+368T>A (n.264+368T>A) c.883A>T (p.Asn295Tyr) c.297+368T>A (n.297+368T>A) | |
| 8 | g.142914413T>C | CA372388988 | CYP11B2,GML | c.805A>G (p.Asn269Asp) c.264+368T>C (n.264+368T>C) c.883A>G (p.Asn295Asp) c.297+368T>C (n.297+368T>C) | |
| 8 | g.142914413T>G | CA372388990 | CYP11B2,GML | c.805A>C (p.Asn269His) c.264+368T>G (n.264+368T>G) c.883A>C (p.Asn295His) c.297+368T>G (n.297+368T>G) | |
| 8 | g.142914414G>A | CA463506288 | CYP11B2,GML | c.804C>T (p.Asp268=) c.264+369G>A (n.264+369G>A) c.882C>T (p.Asp294=) c.297+369G>A (n.297+369G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.142914414G>C | CA372388992 | CYP11B2,GML | c.804C>G (p.Asp268Glu) c.264+369G>C (n.264+369G>C) c.882C>G (p.Asp294Glu) c.297+369G>C (n.297+369G>C) | |
| 8 | g.142914414G= | CA1825515528 | CYP11B2,GML | c.804C= (p.Asp268=) c.264+369G= (n.264+369G=) c.882C= (p.Asp294=) c.297+369G= (n.297+369G=) | |
| 8 | g.142914414G>T | CA372388994 | CYP11B2,GML | c.804C>A (p.Asp268Glu) c.264+369G>T (n.264+369G>T) c.882C>A (p.Asp294Glu) c.297+369G>T (n.297+369G>T) | gnomAD v4 |
| 8 | g.142914415T>A | CA372388996 | CYP11B2,GML | c.803A>T (p.Asp268Val) c.264+370T>A (n.264+370T>A) c.881A>T (p.Asp294Val) c.297+370T>A (n.297+370T>A) | |
| 8 | g.142914415T>C | CA372388999 | CYP11B2,GML | c.803A>G (p.Asp268Gly) c.264+370T>C (n.264+370T>C) c.881A>G (p.Asp294Gly) c.297+370T>C (n.297+370T>C) | |
| 8 | g.142914415T>G | CA372388998 | CYP11B2,GML | c.803A>C (p.Asp268Ala) c.264+370T>G (n.264+370T>G) c.881A>C (p.Asp294Ala) c.297+370T>G (n.297+370T>G) | |
| 8 | g.142914416C>A | CA372389001 | CYP11B2,GML | c.802G>T (p.Asp268Tyr) c.264+371C>A (n.264+371C>A) c.880G>T (p.Asp294Tyr) c.297+371C>A (n.297+371C>A) | gnomAD v4 |
| 8 | g.142914416C= | CA1825515529 | CYP11B2,GML | c.802G= (p.Asp268=) c.264+371C= (n.264+371C=) c.880G= (p.Asp294=) c.297+371C= (n.297+371C=) | |
| 8 | g.142914416C>G | CA372389003 | CYP11B2,GML | c.802G>C (p.Asp268His) c.264+371C>G (n.264+371C>G) c.880G>C (p.Asp294His) c.297+371C>G (n.297+371C>G) | |
| 8 | g.142914416C>T | CA4906063 | CYP11B2,GML | c.802G>A (p.Asp268Asn) c.264+371C>T (n.264+371C>T) c.880G>A (p.Asp294Asn) c.297+371C>T (n.297+371C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.142914416_142914417insG | CA585726964 | CYP11B2,GML | c.801_802insC (p.Asp268ArgfsTer?) c.264+371_264+372insG (n.264+371_264+372insG) c.879_880insC (p.Asp294ArgfsTer?) c.297+371_297+372insG (n.297+371_297+372insG) | gnomAD v2 |
| 8 | g.142914417A= | CA1825515530 | CYP11B2,GML | c.801T= (p.Gly267=) c.264+372A= (n.264+372A=) c.879T= (p.Gly293=) c.297+372A= (n.297+372A=) | |
| 8 | g.142914417A>C | CA463506289 | CYP11B2,GML | c.801T>G (p.Gly267=) c.264+372A>C (n.264+372A>C) c.879T>G (p.Gly293=) c.297+372A>C (n.297+372A>C) | dbSNP gnomAD v2 |
| 8 | g.142914417A>G | CA4906064 | CYP11B2,GML | c.801T>C (p.Gly267=) c.264+372A>G (n.264+372A>G) c.879T>C (p.Gly293=) c.297+372A>G (n.297+372A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |