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.60821807G>A | CA460845658 | CHD7 | c.2715G>A (p.Leu905=) c.1717-40422G>A (n.1717-40422G>A) c.702G>A (p.Leu234=) c.252G>A (p.Leu84=) | |
| 8 | g.60821807G>C | CA460845659 | CHD7 | c.2715G>C (p.Leu905=) c.1717-40422G>C (n.1717-40422G>C) c.702G>C (p.Leu234=) c.252G>C (p.Leu84=) | |
| 8 | g.60821807G>T | CA460845660 | CHD7 | c.2715G>T (p.Leu905=) c.1717-40422G>T (n.1717-40422G>T) c.702G>T (p.Leu234=) c.252G>T (p.Leu84=) | |
| 8 | g.60821808G>A | CA371307602 | CHD7 | c.2716G>A (p.Val906Met) c.1717-40421G>A (n.1717-40421G>A) c.703G>A (p.Val235Met) c.253G>A (p.Val85Met) | |
| 8 | g.60821808G>C | CA371307601 | CHD7 | c.2716G>C (p.Val906Leu) c.1717-40421G>C (n.1717-40421G>C) c.703G>C (p.Val235Leu) c.253G>C (p.Val85Leu) | |
| 8 | g.60821808G>T | CA371307599 | CHD7 | c.2716G>T (p.Val906Leu) c.1717-40421G>T (n.1717-40421G>T) c.703G>T (p.Val235Leu) c.253G>T (p.Val85Leu) | |
| 8 | g.60821809T>A | CA371307605 | CHD7 | c.2717T>A (p.Val906Glu) c.1717-40420T>A (n.1717-40420T>A) c.704T>A (p.Val235Glu) c.254T>A (p.Val85Glu) | |
| 8 | g.60821809T>C | CA371307606 | CHD7 | c.2717T>C (p.Val906Ala) c.1717-40420T>C (n.1717-40420T>C) c.704T>C (p.Val235Ala) c.254T>C (p.Val85Ala) | |
| 8 | g.60821809T>G | CA371307608 | CHD7 | c.2717T>G (p.Val906Gly) c.1717-40420T>G (n.1717-40420T>G) c.704T>G (p.Val235Gly) c.254T>G (p.Val85Gly) | |
| 8 | g.60821810G>A | CA460845664 | CHD7 | c.2718G>A (p.Val906=) c.1717-40419G>A (n.1717-40419G>A) c.705G>A (p.Val235=) c.255G>A (p.Val85=) | |
| 8 | g.60821810G>C | CA460845665 | CHD7 | c.2718G>C (p.Val906=) c.1717-40419G>C (n.1717-40419G>C) c.705G>C (p.Val235=) c.255G>C (p.Val85=) | |
| 8 | g.60821810G>T | CA460845666 | CHD7 | c.2718G>T (p.Val906=) c.1717-40419G>T (n.1717-40419G>T) c.705G>T (p.Val235=) c.255G>T (p.Val85=) | |
| 8 | g.60821811A>C | CA371307610 | CHD7 | c.2719A>C (p.Lys907Gln) c.1717-40418A>C (n.1717-40418A>C) c.706A>C (p.Lys236Gln) c.256A>C (p.Lys86Gln) | |
| 8 | g.60821811A>G | CA371307612 | CHD7 | c.2719A>G (p.Lys907Glu) c.1717-40418A>G (n.1717-40418A>G) c.706A>G (p.Lys236Glu) c.256A>G (p.Lys86Glu) | |
| 8 | g.60821811A>T | CA371307613 | CHD7 | c.2719A>T (p.Lys907Ter) c.1717-40418A>T (n.1717-40418A>T) c.706A>T (p.Lys236Ter) c.256A>T (p.Lys86Ter) | |
| 8 | g.60821812A>C | CA371307614 | CHD7 | c.2720A>C (p.Lys907Thr) c.1717-40417A>C (n.1717-40417A>C) c.707A>C (p.Lys236Thr) c.257A>C (p.Lys86Thr) | |
| 8 | g.60821812A>G | CA371307615 | CHD7 | c.2720A>G (p.Lys907Arg) c.1717-40417A>G (n.1717-40417A>G) c.707A>G (p.Lys236Arg) c.257A>G (p.Lys86Arg) | |
| 8 | g.60821812A>T | CA371307617 | CHD7 | c.2720A>T (p.Lys907Met) c.1717-40417A>T (n.1717-40417A>T) c.707A>T (p.Lys236Met) c.257A>T (p.Lys86Met) | |
| 8 | g.60821813G>A | CA460845670 | CHD7 | c.2721G>A (p.Lys907=) c.1717-40416G>A (n.1717-40416G>A) c.708G>A (p.Lys236=) c.258G>A (p.Lys86=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60821813G>C | CA371307619 | CHD7 | c.2721G>C (p.Lys907Asn) c.1717-40416G>C (n.1717-40416G>C) c.708G>C (p.Lys236Asn) c.258G>C (p.Lys86Asn) | |
| 8 | g.60821813G= | CA1788142516 | CHD7 | c.2721G= (p.Lys907=) c.1717-40416G= (n.1717-40416G=) c.708G= (p.Lys236=) c.258G= (p.Lys86=) | |
| 8 | g.60821813G>T | CA371307621 | CHD7 | c.2721G>T (p.Lys907Asn) c.1717-40416G>T (n.1717-40416G>T) c.708G>T (p.Lys236Asn) c.258G>T (p.Lys86Asn) | |
| 8 | g.60821814T>A | CA371307622 | CHD7 | c.2722T>A (p.Trp908Arg) c.1717-40415T>A (n.1717-40415T>A) c.709T>A (p.Trp237Arg) c.259T>A (p.Trp87Arg) | |
| 8 | g.60821814T>C | CA371307623 | CHD7 | c.2722T>C (p.Trp908Arg) c.1717-40415T>C (n.1717-40415T>C) c.709T>C (p.Trp237Arg) c.259T>C (p.Trp87Arg) | ClinVar dbSNP |
| 8 | g.60821814T>G | CA371307625 | CHD7 | c.2722T>G (p.Trp908Gly) c.1717-40415T>G (n.1717-40415T>G) c.709T>G (p.Trp237Gly) c.259T>G (p.Trp87Gly) | |
| 8 | g.60821814T= | CA1788142520 | CHD7 | c.2722T= (p.Trp908=) c.1717-40415T= (n.1717-40415T=) c.709T= (p.Trp237=) c.259T= (p.Trp87=) | |
| 8 | g.60821815G>A | CA371307629 | CHD7 | c.2723G>A (p.Trp908Ter) c.1717-40414G>A (n.1717-40414G>A) c.710G>A (p.Trp237Ter) c.260G>A (p.Trp87Ter) | ClinVar |
| 8 | g.60821815G>C | CA371307628 | CHD7 | c.2723G>C (p.Trp908Ser) c.1717-40414G>C (n.1717-40414G>C) c.710G>C (p.Trp237Ser) c.260G>C (p.Trp87Ser) | |
| 8 | g.60821815G>T | CA371307626 | CHD7 | c.2723G>T (p.Trp908Leu) c.1717-40414G>T (n.1717-40414G>T) c.710G>T (p.Trp237Leu) c.260G>T (p.Trp87Leu) | |
| 8 | g.60821816G>A | CA371307631 | CHD7 | c.2724G>A (p.Trp908Ter) c.1717-40413G>A (n.1717-40413G>A) c.711G>A (p.Trp237Ter) c.261G>A (p.Trp87Ter) | |
| 8 | g.60821816G>C | CA371307632 | CHD7 | c.2724G>C (p.Trp908Cys) c.1717-40413G>C (n.1717-40413G>C) c.711G>C (p.Trp237Cys) c.261G>C (p.Trp87Cys) | |
| 8 | g.60821816G>T | CA371307633 | CHD7 | c.2724G>T (p.Trp908Cys) c.1717-40413G>T (n.1717-40413G>T) c.711G>T (p.Trp237Cys) c.261G>T (p.Trp87Cys) | |
| 8 | g.60821816_60821819delinsGTGT | CA1788142523 | CHD7 | c.2724_2727delinsGTGT (p.Trp908=) c.1717-40413_1717-40410delinsGTGT (n.1717-40413_1717-40410delinsGTGT) c.711_714delinsGTGT (p.Trp237=) c.261_264delinsGTGT (p.Trp87=) | |
| 8 | g.60821817T>A | CA371307634 | CHD7 | c.2725T>A (p.Cys909Ser) c.1717-40412T>A (n.1717-40412T>A) c.712T>A (p.Cys238Ser) c.262T>A (p.Cys88Ser) | |
| 8 | g.60821817T>C | CA371307635 | CHD7 | c.2725T>C (p.Cys909Arg) c.1717-40412T>C (n.1717-40412T>C) c.712T>C (p.Cys238Arg) c.262T>C (p.Cys88Arg) | |
| 8 | g.60821817T>G | CA371307636 | CHD7 | c.2725T>G (p.Cys909Gly) c.1717-40412T>G (n.1717-40412T>G) c.712T>G (p.Cys238Gly) c.262T>G (p.Cys88Gly) | |
| 8 | g.60821818_60821820dup | CA2573053038 | CHD7 | c.2726_2728dup (p.Cys909_Ser910insCys) c.1717-40411_1717-40409dup (n.1717-40411_1717-40409dup) c.713_715dup (p.Cys238_Ser239insCys) c.263_265dup (p.Cys88_Ser89insCys) | ClinVar dbSNP |
| 8 | g.60821818_60821820del | CA658797098 | CHD7 | c.2726_2728del (p.Cys909del) c.1717-40411_1717-40409del (n.1717-40411_1717-40409del) c.713_715del (p.Cys238del) c.263_265del (p.Cys88del) | ClinVar dbSNP |
| 8 | g.60821818G>A | CA371307641 | CHD7 | c.2726G>A (p.Cys909Tyr) c.1717-40411G>A (n.1717-40411G>A) c.713G>A (p.Cys238Tyr) c.263G>A (p.Cys88Tyr) | |
| 8 | g.60821818G>C | CA371307637 | CHD7 | c.2726G>C (p.Cys909Ser) c.1717-40411G>C (n.1717-40411G>C) c.713G>C (p.Cys238Ser) c.263G>C (p.Cys88Ser) | |
| 8 | g.60821818G>T | CA371307639 | CHD7 | c.2726G>T (p.Cys909Phe) c.1717-40411G>T (n.1717-40411G>T) c.713G>T (p.Cys238Phe) c.263G>T (p.Cys88Phe) | |
| 8 | g.60821819T>A | CA371307645 | CHD7 | c.2727T>A (p.Cys909Ter) c.1717-40410T>A (n.1717-40410T>A) c.714T>A (p.Cys238Ter) c.264T>A (p.Cys88Ter) | |
| 8 | g.60821819T>C | CA460845673 | CHD7 | c.2727T>C (p.Cys909=) c.1717-40410T>C (n.1717-40410T>C) c.714T>C (p.Cys238=) c.264T>C (p.Cys88=) | |
| 8 | g.60821819T>G | CA371307647 | CHD7 | c.2727T>G (p.Cys909Trp) c.1717-40410T>G (n.1717-40410T>G) c.714T>G (p.Cys238Trp) c.264T>G (p.Cys88Trp) | |
| 8 | g.60821820T>A | CA371307650 | CHD7 | c.2728T>A (p.Ser910Thr) c.1717-40409T>A (n.1717-40409T>A) c.715T>A (p.Ser239Thr) c.265T>A (p.Ser89Thr) | |
| 8 | g.60821820T>C | CA371307651 | CHD7 | c.2728T>C (p.Ser910Pro) c.1717-40409T>C (n.1717-40409T>C) c.715T>C (p.Ser239Pro) c.265T>C (p.Ser89Pro) | |
| 8 | g.60821820T>G | CA371307653 | CHD7 | c.2728T>G (p.Ser910Ala) c.1717-40409T>G (n.1717-40409T>G) c.715T>G (p.Ser239Ala) c.265T>G (p.Ser89Ala) | |
| 8 | g.60821821C>A | CA371307658 | CHD7 | c.2729C>A (p.Ser910Ter) c.1717-40408C>A (n.1717-40408C>A) c.716C>A (p.Ser239Ter) c.266C>A (p.Ser89Ter) | gnomAD v4 |
| 8 | g.60821821C= | CA1788142534 | CHD7 | c.2729C= (p.Ser910=) c.1717-40408C= (n.1717-40408C=) c.716C= (p.Ser239=) c.266C= (p.Ser89=) | |
| 8 | g.60821821C>G | CA371307654 | CHD7 | c.2729C>G (p.Ser910Ter) c.1717-40408C>G (n.1717-40408C>G) c.716C>G (p.Ser239Ter) c.266C>G (p.Ser89Ter) | ClinVar dbSNP |