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 |
|---|---|---|---|---|---|
| 8 | g.60821907G>A | CA371307979 | CHD7 | c.2815G>A (p.Glu939Lys) c.1717-40322G>A (n.1717-40322G>A) c.802G>A (p.Glu268Lys) c.352G>A (p.Glu118Lys) | |
| 8 | g.60821907G>C | CA371307981 | CHD7 | c.2815G>C (p.Glu939Gln) c.1717-40322G>C (n.1717-40322G>C) c.802G>C (p.Glu268Gln) c.352G>C (p.Glu118Gln) | |
| 8 | g.60821907G= | CA1788142669 | CHD7 | c.2815G= (p.Glu939=) c.1717-40322G= (n.1717-40322G=) c.802G= (p.Glu268=) c.352G= (p.Glu118=) | |
| 8 | g.60821907G>T | CA271291 | CHD7 | c.2815G>T (p.Glu939Ter) c.1717-40322G>T (n.1717-40322G>T) c.802G>T (p.Glu268Ter) c.352G>T (p.Glu118Ter) | ClinVar dbSNP |
| 8 | g.60821908A>C | CA371307982 | CHD7 | c.2816A>C (p.Glu939Ala) c.1717-40321A>C (n.1717-40321A>C) c.803A>C (p.Glu268Ala) c.353A>C (p.Glu118Ala) | |
| 8 | g.60821908A>G | CA371307983 | CHD7 | c.2816A>G (p.Glu939Gly) c.1717-40321A>G (n.1717-40321A>G) c.803A>G (p.Glu268Gly) c.353A>G (p.Glu118Gly) | |
| 8 | g.60821908A>T | CA371307984 | CHD7 | c.2816A>T (p.Glu939Val) c.1717-40321A>T (n.1717-40321A>T) c.803A>T (p.Glu268Val) c.353A>T (p.Glu118Val) | |
| 8 | g.60821909G>A | CA460845754 | CHD7 | c.2817G>A (p.Glu939=) c.1717-40320G>A (n.1717-40320G>A) c.804G>A (p.Glu268=) c.354G>A (p.Glu118=) | |
| 8 | g.60821909G>C | CA371307986 | CHD7 | c.2817G>C (p.Glu939Asp) c.1717-40320G>C (n.1717-40320G>C) c.804G>C (p.Glu268Asp) c.354G>C (p.Glu118Asp) | |
| 8 | g.60821909G= | CA1788142674 | CHD7 | c.2817G= (p.Glu939=) c.1717-40320G= (n.1717-40320G=) c.804G= (p.Glu268=) c.354G= (p.Glu118=) | |
| 8 | g.60821909G>T | CA371307987 | CHD7 | c.2817G>T (p.Glu939Asp) c.1717-40320G>T (n.1717-40320G>T) c.804G>T (p.Glu268Asp) c.354G>T (p.Glu118Asp) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60821910C>A | CA371307992 | CHD7 | c.2818C>A (p.Pro940Thr) c.1717-40319C>A (n.1717-40319C>A) c.805C>A (p.Pro269Thr) c.355C>A (p.Pro119Thr) | gnomAD v4 |
| 8 | g.60821910C>G | CA371307991 | CHD7 | c.2818C>G (p.Pro940Ala) c.1717-40319C>G (n.1717-40319C>G) c.805C>G (p.Pro269Ala) c.355C>G (p.Pro119Ala) | |
| 8 | g.60821910C>T | CA371307989 | CHD7 | c.2818C>T (p.Pro940Ser) c.1717-40319C>T (n.1717-40319C>T) c.805C>T (p.Pro269Ser) c.355C>T (p.Pro119Ser) | |
| 8 | g.60821911C>A | CA371307994 | CHD7 | c.2819C>A (p.Pro940Gln) c.1717-40318C>A (n.1717-40318C>A) c.806C>A (p.Pro269Gln) c.356C>A (p.Pro119Gln) | |
| 8 | g.60821911C= | CA1788142681 | CHD7 | c.2819C= (p.Pro940=) c.1717-40318C= (n.1717-40318C=) c.806C= (p.Pro269=) c.356C= (p.Pro119=) | |
| 8 | g.60821911C>G | CA371307996 | CHD7 | c.2819C>G (p.Pro940Arg) c.1717-40318C>G (n.1717-40318C>G) c.806C>G (p.Pro269Arg) c.356C>G (p.Pro119Arg) | |
| 8 | g.60821911C>T | CA4759819 | CHD7 | c.2819C>T (p.Pro940Leu) c.1717-40318C>T (n.1717-40318C>T) c.806C>T (p.Pro269Leu) c.356C>T (p.Pro119Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60821912G>A | CA4759820 | CHD7 | c.2820G>A (p.Pro940=) c.1717-40317G>A (n.1717-40317G>A) c.807G>A (p.Pro269=) c.357G>A (p.Pro119=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60821912G>C | CA460845755 | CHD7 | c.2820G>C (p.Pro940=) c.1717-40317G>C (n.1717-40317G>C) c.807G>C (p.Pro269=) c.357G>C (p.Pro119=) | |
| 8 | g.60821912G= | CA1788142688 | CHD7 | c.2820G= (p.Pro940=) c.1717-40317G= (n.1717-40317G=) c.807G= (p.Pro269=) c.357G= (p.Pro119=) | |
| 8 | g.60821912G>T | CA460845756 | CHD7 | c.2820G>T (p.Pro940=) c.1717-40317G>T (n.1717-40317G>T) c.807G>T (p.Pro269=) c.357G>T (p.Pro119=) | COSMIC |
| 8 | g.60821912_60821914dup | CA2580078445 | CHD7 | c.2820_2822dup (p.Glu941_Thr942insGlu) c.1717-40317_1717-40315dup (n.1717-40317_1717-40315dup) c.807_809dup (p.Glu270_Thr271insGlu) c.357_359dup (p.Glu120_Thr121insGlu) | ClinVar gnomAD v4 |
| 8 | g.60821913G>A | CA371307999 | CHD7 | c.2821G>A (p.Glu941Lys) c.1717-40316G>A (n.1717-40316G>A) c.808G>A (p.Glu270Lys) c.358G>A (p.Glu120Lys) | |
| 8 | g.60821913G>C | CA371308001 | CHD7 | c.2821G>C (p.Glu941Gln) c.1717-40316G>C (n.1717-40316G>C) c.808G>C (p.Glu270Gln) c.358G>C (p.Glu120Gln) | |
| 8 | g.60821913G>T | CA371308003 | CHD7 | c.2821G>T (p.Glu941Ter) c.1717-40316G>T (n.1717-40316G>T) c.808G>T (p.Glu270Ter) c.358G>T (p.Glu120Ter) | |
| 8 | g.60821914A>C | CA371308005 | CHD7 | c.2822A>C (p.Glu941Ala) c.1717-40315A>C (n.1717-40315A>C) c.809A>C (p.Glu270Ala) c.359A>C (p.Glu120Ala) | ClinVar |
| 8 | g.60821914A>G | CA371308006 | CHD7 | c.2822A>G (p.Glu941Gly) c.1717-40315A>G (n.1717-40315A>G) c.809A>G (p.Glu270Gly) c.359A>G (p.Glu120Gly) | |
| 8 | g.60821914A>T | CA371308008 | CHD7 | c.2822A>T (p.Glu941Val) c.1717-40315A>T (n.1717-40315A>T) c.809A>T (p.Glu270Val) c.359A>T (p.Glu120Val) | |
| 8 | g.60821915A>C | CA371308009 | CHD7 | c.2823A>C (p.Glu941Asp) c.1717-40314A>C (n.1717-40314A>C) c.810A>C (p.Glu270Asp) c.360A>C (p.Glu120Asp) | |
| 8 | g.60821915A>G | CA460845757 | CHD7 | c.2823A>G (p.Glu941=) c.1717-40314A>G (n.1717-40314A>G) c.810A>G (p.Glu270=) c.360A>G (p.Glu120=) | |
| 8 | g.60821915A>T | CA371308011 | CHD7 | c.2823A>T (p.Glu941Asp) c.1717-40314A>T (n.1717-40314A>T) c.810A>T (p.Glu270Asp) c.360A>T (p.Glu120Asp) | |
| 8 | g.60821916A= | CA1788142692 | CHD7 | c.2824A= (p.Thr942=) c.1717-40313A= (n.1717-40313A=) c.811A= (p.Thr271=) c.361A= (p.Thr121=) | |
| 8 | g.60821916A>C | CA371308015 | CHD7 | c.2824A>C (p.Thr942Pro) c.1717-40313A>C (n.1717-40313A>C) c.811A>C (p.Thr271Pro) c.361A>C (p.Thr121Pro) | |
| 8 | g.60821916A>G | CA4759821 | CHD7 | c.2824A>G (p.Thr942Ala) c.1717-40313A>G (n.1717-40313A>G) c.811A>G (p.Thr271Ala) c.361A>G (p.Thr121Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60821916A>T | CA371308013 | CHD7 | c.2824A>T (p.Thr942Ser) c.1717-40313A>T (n.1717-40313A>T) c.811A>T (p.Thr271Ser) c.361A>T (p.Thr121Ser) | |
| 8 | g.60821917C>A | CA371308017 | CHD7 | c.2825C>A (p.Thr942Lys) c.1717-40312C>A (n.1717-40312C>A) c.812C>A (p.Thr271Lys) c.362C>A (p.Thr121Lys) | |
| 8 | g.60821917C= | CA1788142697 | CHD7 | c.2825C= (p.Thr942=) c.1717-40312C= (n.1717-40312C=) c.812C= (p.Thr271=) c.362C= (p.Thr121=) | |
| 8 | g.60821917C>G | CA371308019 | CHD7 | c.2825C>G (p.Thr942Arg) c.1717-40312C>G (n.1717-40312C>G) c.812C>G (p.Thr271Arg) c.362C>G (p.Thr121Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60821917C>T | CA371308021 | CHD7 | c.2825C>T (p.Thr942Ile) c.1717-40312C>T (n.1717-40312C>T) c.812C>T (p.Thr271Ile) c.362C>T (p.Thr121Ile) | |
| 8 | g.60821918A= | CA1788142701 | CHD7 | c.2826A= (p.Thr942=) c.1717-40311A= (n.1717-40311A=) c.813A= (p.Thr271=) c.363A= (p.Thr121=) | |
| 8 | g.60821918A>C | CA460845758 | CHD7 | c.2826A>C (p.Thr942=) c.1717-40311A>C (n.1717-40311A>C) c.813A>C (p.Thr271=) c.363A>C (p.Thr121=) | |
| 8 | g.60821918A>G | CA460845759 | CHD7 | c.2826A>G (p.Thr942=) c.1717-40311A>G (n.1717-40311A>G) c.813A>G (p.Thr271=) c.363A>G (p.Thr121=) | dbSNP |
| 8 | g.60821918A>T | CA460845760 | CHD7 | c.2826A>T (p.Thr942=) c.1717-40311A>T (n.1717-40311A>T) c.813A>T (p.Thr271=) c.363A>T (p.Thr121=) | |
| 8 | g.60821920_60821921del | CA2695209638 | CHD7 | c.2828_2829del (p.Glu943AlafsTer8) c.1717-40309_1717-40308del (n.1717-40309_1717-40308del) c.815_816del (p.Glu272AlafsTer8) c.365_366del (p.Glu122AlafsTer8) | |
| 8 | g.60821919G>A | CA4759822 | CHD7 | c.2827G>A (p.Glu943Lys) c.1717-40310G>A (n.1717-40310G>A) c.814G>A (p.Glu272Lys) c.364G>A (p.Glu122Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60821919G>C | CA371308024 | CHD7 | c.2827G>C (p.Glu943Gln) c.1717-40310G>C (n.1717-40310G>C) c.814G>C (p.Glu272Gln) c.364G>C (p.Glu122Gln) | |
| 8 | g.60821919G= | CA1788142705 | CHD7 | c.2827G= (p.Glu943=) c.1717-40310G= (n.1717-40310G=) c.814G= (p.Glu272=) c.364G= (p.Glu122=) | |
| 8 | g.60821919G>T | CA371308025 | CHD7 | c.2827G>T (p.Glu943Ter) c.1717-40310G>T (n.1717-40310G>T) c.814G>T (p.Glu272Ter) c.364G>T (p.Glu122Ter) | |
| 8 | g.60821920A>C | CA371308026 | CHD7 | c.2828A>C (p.Glu943Ala) c.1717-40309A>C (n.1717-40309A>C) c.815A>C (p.Glu272Ala) c.365A>C (p.Glu122Ala) |