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.60822634_60822655delinsACTGGGAAAGGGAATTCCGAAC | CA1788144679 | CHD7 | c.3089_3110delinsACTGGGAAAGGGAATTCCGAAC (p.Asn1030=) c.1717-39595_1717-39574delinsACTGGGAAAGGGAATTCCGAAC (n.1717-39595_1717-39574delinsACTGGGAAAGGGAATTCCGAAC) c.1076_1097delinsACTGGGAAAGGGAATTCCGAAC (p.Asn359=) c.626_647delinsACTGGGAAAGGGAATTCCGAAC (p.Asn209=) | |
| 8 | g.60822639_60822659del | CA1139660547 | CHD7 | c.3094_3114del (p.Glu1032_Trp1038del) c.1717-39590_1717-39570del (n.1717-39590_1717-39570del) c.1081_1101del (p.Glu361_Trp367del) c.631_651del (p.Glu211_Trp217del) | ClinVar dbSNP |
| 8 | g.60822651C>A | CA461104693 | CHD7 | c.3106C>A (p.Arg1036=) c.1717-39578C>A (n.1717-39578C>A) c.1093C>A (p.Arg365=) c.643C>A (p.Arg215=) | |
| 8 | g.60822651C= | CA1788144709 | CHD7 | c.3106C= (p.Arg1036=) c.1717-39578C= (n.1717-39578C=) c.1093C= (p.Arg365=) c.643C= (p.Arg215=) | |
| 8 | g.60822651C>G | CA371309984 | CHD7 | c.3106C>G (p.Arg1036Gly) c.1717-39578C>G (n.1717-39578C>G) c.1093C>G (p.Arg365Gly) c.643C>G (p.Arg215Gly) | |
| 8 | g.60822651C>T | CA371309988 | CHD7 | c.3106C>T (p.Arg1036Ter) c.1717-39578C>T (n.1717-39578C>T) c.1093C>T (p.Arg365Ter) c.643C>T (p.Arg215Ter) | ClinVar dbSNP |
| 8 | g.60822652G>A | CA371309991 | CHD7 | c.3107G>A (p.Arg1036Gln) c.1717-39577G>A (n.1717-39577G>A) c.1094G>A (p.Arg365Gln) c.644G>A (p.Arg215Gln) | dbSNP gnomAD v4 |
| 8 | g.60822652G>C | CA371309995 | CHD7 | c.3107G>C (p.Arg1036Pro) c.1717-39577G>C (n.1717-39577G>C) c.1094G>C (p.Arg365Pro) c.644G>C (p.Arg215Pro) | |
| 8 | g.60822652G= | CA1788144714 | CHD7 | c.3107G= (p.Arg1036=) c.1717-39577G= (n.1717-39577G=) c.1094G= (p.Arg365=) c.644G= (p.Arg215=) | |
| 8 | g.60822652G>T | CA371309997 | CHD7 | c.3107G>T (p.Arg1036Leu) c.1717-39577G>T (n.1717-39577G>T) c.1094G>T (p.Arg365Leu) c.644G>T (p.Arg215Leu) | |
| 8 | g.60822653A>C | CA461104696 | CHD7 | c.3108A>C (p.Arg1036=) c.1717-39576A>C (n.1717-39576A>C) c.1095A>C (p.Arg365=) c.645A>C (p.Arg215=) | |
| 8 | g.60822653A>G | CA461104705 | CHD7 | c.3108A>G (p.Arg1036=) c.1717-39576A>G (n.1717-39576A>G) c.1095A>G (p.Arg365=) c.645A>G (p.Arg215=) | |
| 8 | g.60822653A>T | CA461104703 | CHD7 | c.3108A>T (p.Arg1036=) c.1717-39576A>T (n.1717-39576A>T) c.1095A>T (p.Arg365=) c.645A>T (p.Arg215=) | |
| 8 | g.60822654A>C | CA371310000 | CHD7 | c.3109A>C (p.Thr1037Pro) c.1717-39575A>C (n.1717-39575A>C) c.1096A>C (p.Thr366Pro) c.646A>C (p.Thr216Pro) | |
| 8 | g.60822654A>G | CA371310002 | CHD7 | c.3109A>G (p.Thr1037Ala) c.1717-39575A>G (n.1717-39575A>G) c.1096A>G (p.Thr366Ala) c.646A>G (p.Thr216Ala) | |
| 8 | g.60822654A>T | CA371310001 | CHD7 | c.3109A>T (p.Thr1037Ser) c.1717-39575A>T (n.1717-39575A>T) c.1096A>T (p.Thr366Ser) c.646A>T (p.Thr216Ser) | |
| 8 | g.60822655C>A | CA371310003 | CHD7 | c.3110C>A (p.Thr1037Asn) c.1717-39574C>A (n.1717-39574C>A) c.1097C>A (p.Thr366Asn) c.647C>A (p.Thr216Asn) | |
| 8 | g.60822655C>G | CA371310005 | CHD7 | c.3110C>G (p.Thr1037Ser) c.1717-39574C>G (n.1717-39574C>G) c.1097C>G (p.Thr366Ser) c.647C>G (p.Thr216Ser) | |
| 8 | g.60822655C>T | CA371310008 | CHD7 | c.3110C>T (p.Thr1037Ile) c.1717-39574C>T (n.1717-39574C>T) c.1097C>T (p.Thr366Ile) c.647C>T (p.Thr216Ile) | |
| 8 | g.60822656C>A | CA461104711 | CHD7 | c.3111C>A (p.Thr1037=) c.1717-39573C>A (n.1717-39573C>A) c.1098C>A (p.Thr366=) c.648C>A (p.Thr216=) | ClinVar dbSNP |
| 8 | g.60822656C= | CA1788144720 | CHD7 | c.3111C= (p.Thr1037=) c.1717-39573C= (n.1717-39573C=) c.1098C= (p.Thr366=) c.648C= (p.Thr216=) | |
| 8 | g.60822656C>G | CA461104712 | CHD7 | c.3111C>G (p.Thr1037=) c.1717-39573C>G (n.1717-39573C>G) c.1098C>G (p.Thr366=) c.648C>G (p.Thr216=) | |
| 8 | g.60822656C>T | CA461104713 | CHD7 | c.3111C>T (p.Thr1037=) c.1717-39573C>T (n.1717-39573C>T) c.1098C>T (p.Thr366=) c.648C>T (p.Thr216=) | |
| 8 | g.60822657T>A | CA371310016 | CHD7 | c.3112T>A (p.Trp1038Arg) c.1717-39572T>A (n.1717-39572T>A) c.1099T>A (p.Trp367Arg) c.649T>A (p.Trp217Arg) | |
| 8 | g.60822657T>C | CA371310018 | CHD7 | c.3112T>C (p.Trp1038Arg) c.1717-39572T>C (n.1717-39572T>C) c.1099T>C (p.Trp367Arg) c.649T>C (p.Trp217Arg) | |
| 8 | g.60822657T>G | CA371310023 | CHD7 | c.3112T>G (p.Trp1038Gly) c.1717-39572T>G (n.1717-39572T>G) c.1099T>G (p.Trp367Gly) c.649T>G (p.Trp217Gly) | |
| 8 | g.60822658G>A | CA371310026 | CHD7 | c.3113G>A (p.Trp1038Ter) c.1717-39571G>A (n.1717-39571G>A) c.1100G>A (p.Trp367Ter) c.650G>A (p.Trp217Ter) | |
| 8 | g.60822658G>C | CA371310027 | CHD7 | c.3113G>C (p.Trp1038Ser) c.1717-39571G>C (n.1717-39571G>C) c.1100G>C (p.Trp367Ser) c.650G>C (p.Trp217Ser) | dbSNP |
| 8 | g.60822658G>T | CA371310028 | CHD7 | c.3113G>T (p.Trp1038Leu) c.1717-39571G>T (n.1717-39571G>T) c.1100G>T (p.Trp367Leu) c.650G>T (p.Trp217Leu) | |
| 8 | g.60822659G>A | CA371310029 | CHD7 | c.3114G>A (p.Trp1038Ter) c.1717-39570G>A (n.1717-39570G>A) c.1101G>A (p.Trp367Ter) c.651G>A (p.Trp217Ter) | |
| 8 | g.60822659G>C | CA371310030 | CHD7 | c.3114G>C (p.Trp1038Cys) c.1717-39570G>C (n.1717-39570G>C) c.1101G>C (p.Trp367Cys) c.651G>C (p.Trp217Cys) | |
| 8 | g.60822659G>T | CA371310033 | CHD7 | c.3114G>T (p.Trp1038Cys) c.1717-39570G>T (n.1717-39570G>T) c.1101G>T (p.Trp367Cys) c.651G>T (p.Trp217Cys) | |
| 8 | g.60822660A>C | CA371310036 | CHD7 | c.3115A>C (p.Thr1039Pro) c.1717-39569A>C (n.1717-39569A>C) c.1102A>C (p.Thr368Pro) c.652A>C (p.Thr218Pro) | |
| 8 | g.60822660A>G | CA371310040 | CHD7 | c.3115A>G (p.Thr1039Ala) c.1717-39569A>G (n.1717-39569A>G) c.1102A>G (p.Thr368Ala) c.652A>G (p.Thr218Ala) | |
| 8 | g.60822660A>T | CA371310035 | CHD7 | c.3115A>T (p.Thr1039Ser) c.1717-39569A>T (n.1717-39569A>T) c.1102A>T (p.Thr368Ser) c.652A>T (p.Thr218Ser) | |
| 8 | g.60822661C>A | CA371310045 | CHD7 | c.3116C>A (p.Thr1039Lys) c.1717-39568C>A (n.1717-39568C>A) c.1103C>A (p.Thr368Lys) c.653C>A (p.Thr218Lys) | |
| 8 | g.60822661C>G | CA371310047 | CHD7 | c.3116C>G (p.Thr1039Arg) c.1717-39568C>G (n.1717-39568C>G) c.1103C>G (p.Thr368Arg) c.653C>G (p.Thr218Arg) | |
| 8 | g.60822661C>T | CA371310051 | CHD7 | c.3116C>T (p.Thr1039Ile) c.1717-39568C>T (n.1717-39568C>T) c.1103C>T (p.Thr368Ile) c.653C>T (p.Thr218Ile) | gnomAD v4 |
| 8 | g.60822662A>C | CA461104725 | CHD7 | c.3117A>C (p.Thr1039=) c.1717-39567A>C (n.1717-39567A>C) c.1104A>C (p.Thr368=) c.654A>C (p.Thr218=) | |
| 8 | g.60822662A>G | CA461104726 | CHD7 | c.3117A>G (p.Thr1039=) c.1717-39567A>G (n.1717-39567A>G) c.1104A>G (p.Thr368=) c.654A>G (p.Thr218=) | |
| 8 | g.60822662A>T | CA461104727 | CHD7 | c.3117A>T (p.Thr1039=) c.1717-39567A>T (n.1717-39567A>T) c.1104A>T (p.Thr368=) c.654A>T (p.Thr218=) | |
| 8 | g.60822662dup | CA2695209665 | CHD7 | c.3117dup (p.Glu1040ArgfsTer13) c.1717-39567dup (n.1717-39567dup) c.1104dup (p.Glu369ArgfsTer13) c.654dup (p.Glu219ArgfsTer13) | |
| 8 | g.60822663G>A | CA371310061 | CHD7 | c.3118G>A (p.Glu1040Lys) c.1717-39566G>A (n.1717-39566G>A) c.1105G>A (p.Glu369Lys) c.655G>A (p.Glu219Lys) | |
| 8 | g.60822663G>C | CA371310065 | CHD7 | c.3118G>C (p.Glu1040Gln) c.1717-39566G>C (n.1717-39566G>C) c.1105G>C (p.Glu369Gln) c.655G>C (p.Glu219Gln) | |
| 8 | g.60822663G>T | CA371310066 | CHD7 | c.3118G>T (p.Glu1040Ter) c.1717-39566G>T (n.1717-39566G>T) c.1105G>T (p.Glu369Ter) c.655G>T (p.Glu219Ter) | |
| 8 | g.60822664A>C | CA371310069 | CHD7 | c.3119A>C (p.Glu1040Ala) c.1717-39565A>C (n.1717-39565A>C) c.1106A>C (p.Glu369Ala) c.656A>C (p.Glu219Ala) | |
| 8 | g.60822664A>G | CA371310074 | CHD7 | c.3119A>G (p.Glu1040Gly) c.1717-39565A>G (n.1717-39565A>G) c.1106A>G (p.Glu369Gly) c.656A>G (p.Glu219Gly) | |
| 8 | g.60822664A>T | CA371310071 | CHD7 | c.3119A>T (p.Glu1040Val) c.1717-39565A>T (n.1717-39565A>T) c.1106A>T (p.Glu369Val) c.656A>T (p.Glu219Val) | |
| 8 | g.60822665G>A | CA461104733 | CHD7 | c.3120G>A (p.Glu1040=) c.1717-39564G>A (n.1717-39564G>A) c.1107G>A (p.Glu369=) c.657G>A (p.Glu219=) | |
| 8 | g.60822665G>C | CA371310087 | CHD7 | c.3120G>C (p.Glu1040Asp) c.1717-39564G>C (n.1717-39564G>C) c.1107G>C (p.Glu369Asp) c.657G>C (p.Glu219Asp) | |
| 8 | g.60822665G>T | CA371310090 | CHD7 | c.3120G>T (p.Glu1040Asp) c.1717-39564G>T (n.1717-39564G>T) c.1107G>T (p.Glu369Asp) c.657G>T (p.Glu219Asp) | |
| 8 | g.60822666T>A | CA371310092 | CHD7 | c.3121T>A (p.Leu1041Met) c.1717-39563T>A (n.1717-39563T>A) c.1108T>A (p.Leu370Met) c.658T>A (p.Leu220Met) | |
| 8 | g.60822666T>C | CA461104735 | CHD7 | c.3121T>C (p.Leu1041=) c.1717-39563T>C (n.1717-39563T>C) c.1108T>C (p.Leu370=) c.658T>C (p.Leu220=) | |
| 8 | g.60822666T>G | CA371310094 | CHD7 | c.3121T>G (p.Leu1041Val) c.1717-39563T>G (n.1717-39563T>G) c.1108T>G (p.Leu370Val) c.658T>G (p.Leu220Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60822666T= | CA1788144723 | CHD7 | c.3121T= (p.Leu1041=) c.1717-39563T= (n.1717-39563T=) c.1108T= (p.Leu370=) c.658T= (p.Leu220=) | |
| 8 | g.60822667dup | CA2695209666 | CHD7 | c.3122dup (p.Leu1041PhefsTer12) c.1717-39562dup (n.1717-39562dup) c.1109dup (p.Leu370PhefsTer12) c.659dup (p.Leu220PhefsTer12) | |
| 8 | g.60822667T>A | CA371310097 | CHD7 | c.3122T>A (p.Leu1041Ter) c.1717-39562T>A (n.1717-39562T>A) c.1109T>A (p.Leu370Ter) c.659T>A (p.Leu220Ter) | |
| 8 | g.60822667T>C | CA371310100 | CHD7 | c.3122T>C (p.Leu1041Ser) c.1717-39562T>C (n.1717-39562T>C) c.1109T>C (p.Leu370Ser) c.659T>C (p.Leu220Ser) | |
| 8 | g.60822667T>G | CA177334784 | CHD7 | c.3122T>G (p.Leu1041Trp) c.1717-39562T>G (n.1717-39562T>G) c.1109T>G (p.Leu370Trp) c.659T>G (p.Leu220Trp) | dbSNP COSMIC |
| 8 | g.60822667T= | CA1788144726 | CHD7 | c.3122T= (p.Leu1041=) c.1717-39562T= (n.1717-39562T=) c.1109T= (p.Leu370=) c.659T= (p.Leu220=) | |
| 8 | g.60822668G>A | CA461104739 | CHD7 | c.3123G>A (p.Leu1041=) c.1717-39561G>A (n.1717-39561G>A) c.1110G>A (p.Leu370=) c.660G>A (p.Leu220=) | |
| 8 | g.60822668G>C | CA371310103 | CHD7 | c.3123G>C (p.Leu1041Phe) c.1717-39561G>C (n.1717-39561G>C) c.1110G>C (p.Leu370Phe) c.660G>C (p.Leu220Phe) | |
| 8 | g.60822668G>T | CA371310105 | CHD7 | c.3123G>T (p.Leu1041Phe) c.1717-39561G>T (n.1717-39561G>T) c.1110G>T (p.Leu370Phe) c.660G>T (p.Leu220Phe) | |
| 8 | g.60822669A>C | CA371310108 | CHD7 | c.3124A>C (p.Asn1042His) c.1717-39560A>C (n.1717-39560A>C) c.1111A>C (p.Asn371His) c.661A>C (p.Asn221His) | |
| 8 | g.60822669A>G | CA371310112 | CHD7 | c.3124A>G (p.Asn1042Asp) c.1717-39560A>G (n.1717-39560A>G) c.1111A>G (p.Asn371Asp) c.661A>G (p.Asn221Asp) | |
| 8 | g.60822669A>T | CA371310113 | CHD7 | c.3124A>T (p.Asn1042Tyr) c.1717-39560A>T (n.1717-39560A>T) c.1111A>T (p.Asn371Tyr) c.661A>T (p.Asn221Tyr) | |
| 8 | g.60822670A>C | CA371310114 | CHD7 | c.3125A>C (p.Asn1042Thr) c.1717-39559A>C (n.1717-39559A>C) c.1112A>C (p.Asn371Thr) c.662A>C (p.Asn221Thr) | |
| 8 | g.60822670A>G | CA371310116 | CHD7 | c.3125A>G (p.Asn1042Ser) c.1717-39559A>G (n.1717-39559A>G) c.1112A>G (p.Asn371Ser) c.662A>G (p.Asn221Ser) | |
| 8 | g.60822670A>T | CA371310120 | CHD7 | c.3125A>T (p.Asn1042Ile) c.1717-39559A>T (n.1717-39559A>T) c.1112A>T (p.Asn371Ile) c.662A>T (p.Asn221Ile) | |
| 8 | g.60822671C>A | CA371310129 | CHD7 | c.3126C>A (p.Asn1042Lys) c.1717-39558C>A (n.1717-39558C>A) c.1113C>A (p.Asn371Lys) c.663C>A (p.Asn221Lys) | ClinVar dbSNP |
| 8 | g.60822671C= | CA1788144791 | CHD7 | c.3126C= (p.Asn1042=) c.1717-39558C= (n.1717-39558C=) c.1113C= (p.Asn371=) c.663C= (p.Asn221=) | |
| 8 | g.60822671C>G | CA371310132 | CHD7 | c.3126C>G (p.Asn1042Lys) c.1717-39558C>G (n.1717-39558C>G) c.1113C>G (p.Asn371Lys) c.663C>G (p.Asn221Lys) | |
| 8 | g.60822671C>T | CA171745 | CHD7 | c.3126C>T (p.Asn1042=) c.1717-39558C>T (n.1717-39558C>T) c.1113C>T (p.Asn371=) c.663C>T (p.Asn221=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60822672G>A | CA371310137 | CHD7 | c.3127G>A (p.Val1043Met) c.1717-39557G>A (n.1717-39557G>A) c.1114G>A (p.Val372Met) c.664G>A (p.Val222Met) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60822672G>C | CA371310139 | CHD7 | c.3127G>C (p.Val1043Leu) c.1717-39557G>C (n.1717-39557G>C) c.1114G>C (p.Val372Leu) c.664G>C (p.Val222Leu) | |
| 8 | g.60822672G= | CA1788144792 | CHD7 | c.3127G= (p.Val1043=) c.1717-39557G= (n.1717-39557G=) c.1114G= (p.Val372=) c.664G= (p.Val222=) | |
| 8 | g.60822672G>T | CA371310144 | CHD7 | c.3127G>T (p.Val1043Leu) c.1717-39557G>T (n.1717-39557G>T) c.1114G>T (p.Val372Leu) c.664G>T (p.Val222Leu) | |
| 8 | g.60822673T>A | CA371310151 | CHD7 | c.3128T>A (p.Val1043Glu) c.1717-39556T>A (n.1717-39556T>A) c.1115T>A (p.Val372Glu) c.665T>A (p.Val222Glu) | |
| 8 | g.60822673T>C | CA371310149 | CHD7 | c.3128T>C (p.Val1043Ala) c.1717-39556T>C (n.1717-39556T>C) c.1115T>C (p.Val372Ala) c.665T>C (p.Val222Ala) | |
| 8 | g.60822673T>G | CA371310147 | CHD7 | c.3128T>G (p.Val1043Gly) c.1717-39556T>G (n.1717-39556T>G) c.1115T>G (p.Val372Gly) c.665T>G (p.Val222Gly) | |
| 8 | g.60822673_60822674delinsTG | CA1788144793 | CHD7 | c.3128_3129delinsTG (p.Val1043=) c.1717-39556_1717-39555delinsTG (n.1717-39556_1717-39555delinsTG) c.1115_1116delinsTG (p.Val372=) c.665_666delinsTG (p.Val222=) | |
| 8 | g.60822674G>A | CA461104757 | CHD7 | c.3129G>A (p.Val1043=) c.1717-39555G>A (n.1717-39555G>A) c.1116G>A (p.Val372=) c.666G>A (p.Val222=) | |
| 8 | g.60822674G>C | CA461104760 | CHD7 | c.3129G>C (p.Val1043=) c.1717-39555G>C (n.1717-39555G>C) c.1116G>C (p.Val372=) c.666G>C (p.Val222=) | |
| 8 | g.60822674G>T | CA461104758 | CHD7 | c.3129G>T (p.Val1043=) c.1717-39555G>T (n.1717-39555G>T) c.1116G>T (p.Val372=) c.666G>T (p.Val222=) | |
| 8 | g.60822675del | CA645369438 | CHD7 | c.3130del (p.Val1044LeufsTer27) c.1717-39554del (n.1717-39554del) c.1117del (p.Val373LeufsTer27) c.667del (p.Val223LeufsTer27) | ClinVar dbSNP |
| 8 | g.60822675G>A | CA371310154 | CHD7 | c.3130G>A (p.Val1044Ile) c.1717-39554G>A (n.1717-39554G>A) c.1117G>A (p.Val373Ile) c.667G>A (p.Val223Ile) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60822675G>C | CA371310159 | CHD7 | c.3130G>C (p.Val1044Leu) c.1717-39554G>C (n.1717-39554G>C) c.1117G>C (p.Val373Leu) c.667G>C (p.Val223Leu) | |
| 8 | g.60822675G>T | CA371310161 | CHD7 | c.3130G>T (p.Val1044Phe) c.1717-39554G>T (n.1717-39554G>T) c.1117G>T (p.Val373Phe) c.667G>T (p.Val223Phe) | |
| 8 | g.60822676T>A | CA371310166 | CHD7 | c.3131T>A (p.Val1044Asp) c.1717-39553T>A (n.1717-39553T>A) c.1118T>A (p.Val373Asp) c.668T>A (p.Val223Asp) | |
| 8 | g.60822676T>C | CA371310168 | CHD7 | c.3131T>C (p.Val1044Ala) c.1717-39553T>C (n.1717-39553T>C) c.1118T>C (p.Val373Ala) c.668T>C (p.Val223Ala) | |
| 8 | g.60822676T>G | CA371310172 | CHD7 | c.3131T>G (p.Val1044Gly) c.1717-39553T>G (n.1717-39553T>G) c.1118T>G (p.Val373Gly) c.668T>G (p.Val223Gly) | |
| 8 | g.60822677T>A | CA461104762 | CHD7 | c.3132T>A (p.Val1044=) c.1717-39552T>A (n.1717-39552T>A) c.1119T>A (p.Val373=) c.669T>A (p.Val223=) | |
| 8 | g.60822677T>C | CA461104763 | CHD7 | c.3132T>C (p.Val1044=) c.1717-39552T>C (n.1717-39552T>C) c.1119T>C (p.Val373=) c.669T>C (p.Val223=) | dbSNP gnomAD v4 |
| 8 | g.60822677T>G | CA461104764 | CHD7 | c.3132T>G (p.Val1044=) c.1717-39552T>G (n.1717-39552T>G) c.1119T>G (p.Val373=) c.669T>G (p.Val223=) | |
| 8 | g.60822677T= | CA1788144794 | CHD7 | c.3132T= (p.Val1044=) c.1717-39552T= (n.1717-39552T=) c.1119T= (p.Val373=) c.669T= (p.Val223=) | |
| 8 | g.60822678G>A | CA371310176 | CHD7 | c.3133G>A (p.Val1045Met) c.1717-39551G>A (n.1717-39551G>A) c.1120G>A (p.Val374Met) c.670G>A (p.Val224Met) | |
| 8 | g.60822678G>C | CA371310178 | CHD7 | c.3133G>C (p.Val1045Leu) c.1717-39551G>C (n.1717-39551G>C) c.1120G>C (p.Val374Leu) c.670G>C (p.Val224Leu) | |
| 8 | g.60822678G>T | CA371310181 | CHD7 | c.3133G>T (p.Val1045Leu) c.1717-39551G>T (n.1717-39551G>T) c.1120G>T (p.Val374Leu) c.670G>T (p.Val224Leu) | |
| 8 | g.60822679T>A | CA371310183 | CHD7 | c.3134T>A (p.Val1045Glu) c.1717-39550T>A (n.1717-39550T>A) c.1121T>A (p.Val374Glu) c.671T>A (p.Val224Glu) | |
| 8 | g.60822679T>C | CA371310184 | CHD7 | c.3134T>C (p.Val1045Ala) c.1717-39550T>C (n.1717-39550T>C) c.1121T>C (p.Val374Ala) c.671T>C (p.Val224Ala) | |
| 8 | g.60822679T>G | CA371310185 | CHD7 | c.3134T>G (p.Val1045Gly) c.1717-39550T>G (n.1717-39550T>G) c.1121T>G (p.Val374Gly) c.671T>G (p.Val224Gly) | |
| 8 | g.60822681_60822687del | CA2695209667 | CHD7 | c.3136_3142del (p.Tyr1046GlyfsTer23) c.1717-39548_1717-39542del (n.1717-39548_1717-39542del) c.1123_1129del (p.Tyr375GlyfsTer23) c.673_679del (p.Tyr225GlyfsTer23) | |
| 8 | g.60822680G>A | CA461104768 | CHD7 | c.3135G>A (p.Val1045=) c.1717-39549G>A (n.1717-39549G>A) c.1122G>A (p.Val374=) c.672G>A (p.Val224=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60822680G>C | CA461104771 | CHD7 | c.3135G>C (p.Val1045=) c.1717-39549G>C (n.1717-39549G>C) c.1122G>C (p.Val374=) c.672G>C (p.Val224=) | |
| 8 | g.60822680G= | CA1788144795 | CHD7 | c.3135G= (p.Val1045=) c.1717-39549G= (n.1717-39549G=) c.1122G= (p.Val374=) c.672G= (p.Val224=) | |
| 8 | g.60822680G>T | CA461104769 | CHD7 | c.3135G>T (p.Val1045=) c.1717-39549G>T (n.1717-39549G>T) c.1122G>T (p.Val374=) c.672G>T (p.Val224=) | |
| 8 | g.60822681T>A | CA371310194 | CHD7 | c.3136T>A (p.Tyr1046Asn) c.1717-39548T>A (n.1717-39548T>A) c.1123T>A (p.Tyr375Asn) c.673T>A (p.Tyr225Asn) | |
| 8 | g.60822681T>C | CA371310189 | CHD7 | c.3136T>C (p.Tyr1046His) c.1717-39548T>C (n.1717-39548T>C) c.1123T>C (p.Tyr375His) c.673T>C (p.Tyr225His) | |
| 8 | g.60822681T>G | CA371310187 | CHD7 | c.3136T>G (p.Tyr1046Asp) c.1717-39548T>G (n.1717-39548T>G) c.1123T>G (p.Tyr375Asp) c.673T>G (p.Tyr225Asp) | |
| 8 | g.60822682A>C | CA371310196 | CHD7 | c.3137A>C (p.Tyr1046Ser) c.1717-39547A>C (n.1717-39547A>C) c.1124A>C (p.Tyr375Ser) c.674A>C (p.Tyr225Ser) | |
| 8 | g.60822682A>G | CA371310201 | CHD7 | c.3137A>G (p.Tyr1046Cys) c.1717-39547A>G (n.1717-39547A>G) c.1124A>G (p.Tyr375Cys) c.674A>G (p.Tyr225Cys) | |
| 8 | g.60822682A>T | CA371310203 | CHD7 | c.3137A>T (p.Tyr1046Phe) c.1717-39547A>T (n.1717-39547A>T) c.1124A>T (p.Tyr375Phe) c.674A>T (p.Tyr225Phe) | |
| 8 | g.60822683del | CA2695209668 | CHD7 | c.3138del (p.His1047MetfsTer24) c.1717-39546del (n.1717-39546del) c.1125del (p.His376MetfsTer24) c.675del (p.His226MetfsTer24) | |
| 8 | g.60822683T>A | CA371310206 | CHD7 | c.3138T>A (p.Tyr1046Ter) c.1717-39546T>A (n.1717-39546T>A) c.1125T>A (p.Tyr375Ter) c.675T>A (p.Tyr225Ter) | |
| 8 | g.60822683T>C | CA461104777 | CHD7 | c.3138T>C (p.Tyr1046=) c.1717-39546T>C (n.1717-39546T>C) c.1125T>C (p.Tyr375=) c.675T>C (p.Tyr225=) | |
| 8 | g.60822683T>G | CA371310208 | CHD7 | c.3138T>G (p.Tyr1046Ter) c.1717-39546T>G (n.1717-39546T>G) c.1125T>G (p.Tyr375Ter) c.675T>G (p.Tyr225Ter) | |
| 8 | g.60822684C>A | CA371310216 | CHD7 | c.3139C>A (p.His1047Asn) c.1717-39545C>A (n.1717-39545C>A) c.1126C>A (p.His376Asn) c.676C>A (p.His226Asn) | |
| 8 | g.60822684C= | CA1788144796 | CHD7 | c.3139C= (p.His1047=) c.1717-39545C= (n.1717-39545C=) c.1126C= (p.His376=) c.676C= (p.His226=) | |
| 8 | g.60822684C>G | CA371310217 | CHD7 | c.3139C>G (p.His1047Asp) c.1717-39545C>G (n.1717-39545C>G) c.1126C>G (p.His376Asp) c.676C>G (p.His226Asp) | |
| 8 | g.60822684C>T | CA4759887 | CHD7 | c.3139C>T (p.His1047Tyr) c.1717-39545C>T (n.1717-39545C>T) c.1126C>T (p.His376Tyr) c.676C>T (p.His226Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.60822685A= | CA1788144797 | CHD7 | c.3140A= (p.His1047=) c.1717-39544A= (n.1717-39544A=) c.1127A= (p.His376=) c.677A= (p.His226=) | |
| 8 | g.60822685A>C | CA371310218 | CHD7 | c.3140A>C (p.His1047Pro) c.1717-39544A>C (n.1717-39544A>C) c.1127A>C (p.His376Pro) c.677A>C (p.His226Pro) | |
| 8 | g.60822685A>G | CA371310219 | CHD7 | c.3140A>G (p.His1047Arg) c.1717-39544A>G (n.1717-39544A>G) c.1127A>G (p.His376Arg) c.677A>G (p.His226Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60822685A>T | CA371310221 | CHD7 | c.3140A>T (p.His1047Leu) c.1717-39544A>T (n.1717-39544A>T) c.1127A>T (p.His376Leu) c.677A>T (p.His226Leu) | |
| 8 | g.60822686T>A | CA371310223 | CHD7 | c.3141T>A (p.His1047Gln) c.1717-39543T>A (n.1717-39543T>A) c.1128T>A (p.His376Gln) c.678T>A (p.His226Gln) | |
| 8 | g.60822686T>C | CA461104784 | CHD7 | c.3141T>C (p.His1047=) c.1717-39543T>C (n.1717-39543T>C) c.1128T>C (p.His376=) c.678T>C (p.His226=) | gnomAD v4 |
| 8 | g.60822686T>G | CA371310225 | CHD7 | c.3141T>G (p.His1047Gln) c.1717-39543T>G (n.1717-39543T>G) c.1128T>G (p.His376Gln) c.678T>G (p.His226Gln) | |
| 8 | g.60822687G>A | CA371310232 | CHD7 | c.3142G>A (p.Gly1048Arg) c.1717-39542G>A (n.1717-39542G>A) c.1129G>A (p.Gly377Arg) c.679G>A (p.Gly227Arg) | |
| 8 | g.60822687G>C | CA371310230 | CHD7 | c.3142G>C (p.Gly1048Arg) c.1717-39542G>C (n.1717-39542G>C) c.1129G>C (p.Gly377Arg) c.679G>C (p.Gly227Arg) | |
| 8 | g.60822687G>T | CA371310231 | CHD7 | c.3142G>T (p.Gly1048Trp) c.1717-39542G>T (n.1717-39542G>T) c.1129G>T (p.Gly377Trp) c.679G>T (p.Gly227Trp) | COSMIC |
| 8 | g.60822688G>A | CA371310233 | CHD7 | c.3143G>A (p.Gly1048Glu) c.1717-39541G>A (n.1717-39541G>A) c.1130G>A (p.Gly377Glu) c.680G>A (p.Gly227Glu) | |
| 8 | g.60822688G>C | CA371310236 | CHD7 | c.3143G>C (p.Gly1048Ala) c.1717-39541G>C (n.1717-39541G>C) c.1130G>C (p.Gly377Ala) c.680G>C (p.Gly227Ala) | |
| 8 | g.60822688G>T | CA371310237 | CHD7 | c.3143G>T (p.Gly1048Val) c.1717-39541G>T (n.1717-39541G>T) c.1130G>T (p.Gly377Val) c.680G>T (p.Gly227Val) | |
| 8 | g.60822689G>A | CA461104794 | CHD7 | c.3144G>A (p.Gly1048=) c.1717-39540G>A (n.1717-39540G>A) c.1131G>A (p.Gly377=) c.681G>A (p.Gly227=) | |
| 8 | g.60822689G>C | CA461104791 | CHD7 | c.3144G>C (p.Gly1048=) c.1717-39540G>C (n.1717-39540G>C) c.1131G>C (p.Gly377=) c.681G>C (p.Gly227=) | dbSNP |
| 8 | g.60822689G= | CA1788144798 | CHD7 | c.3144G= (p.Gly1048=) c.1717-39540G= (n.1717-39540G=) c.1131G= (p.Gly377=) c.681G= (p.Gly227=) | |
| 8 | g.60822689G>T | CA461104793 | CHD7 | c.3144G>T (p.Gly1048=) c.1717-39540G>T (n.1717-39540G>T) c.1131G>T (p.Gly377=) c.681G>T (p.Gly227=) | gnomAD v4 |
| 8 | g.60822690A>C | CA371310241 | CHD7 | c.3145A>C (p.Ser1049Arg) c.1717-39539A>C (n.1717-39539A>C) c.1132A>C (p.Ser378Arg) c.682A>C (p.Ser228Arg) | |
| 8 | g.60822690A>G | CA371310243 | CHD7 | c.3145A>G (p.Ser1049Gly) c.1717-39539A>G (n.1717-39539A>G) c.1132A>G (p.Ser378Gly) c.682A>G (p.Ser228Gly) | |
| 8 | g.60822690A>T | CA371310245 | CHD7 | c.3145A>T (p.Ser1049Cys) c.1717-39539A>T (n.1717-39539A>T) c.1132A>T (p.Ser378Cys) c.682A>T (p.Ser228Cys) | |
| 8 | g.60822691G>A | CA371310252 | CHD7 | c.3146G>A (p.Ser1049Asn) c.1717-39538G>A (n.1717-39538G>A) c.1133G>A (p.Ser378Asn) c.683G>A (p.Ser228Asn) | |
| 8 | g.60822691G>C | CA371310256 | CHD7 | c.3146G>C (p.Ser1049Thr) c.1717-39538G>C (n.1717-39538G>C) c.1133G>C (p.Ser378Thr) c.683G>C (p.Ser228Thr) | |
| 8 | g.60822691G>T | CA371310269 | CHD7 | c.3146G>T (p.Ser1049Ile) c.1717-39538G>T (n.1717-39538G>T) c.1133G>T (p.Ser378Ile) c.683G>T (p.Ser228Ile) | |
| 8 | g.60822692T>A | CA371310272 | CHD7 | c.3147T>A (p.Ser1049Arg) c.1717-39537T>A (n.1717-39537T>A) c.1134T>A (p.Ser378Arg) c.684T>A (p.Ser228Arg) | gnomAD v4 |
| 8 | g.60822692T>C | CA461104797 | CHD7 | c.3147T>C (p.Ser1049=) c.1717-39537T>C (n.1717-39537T>C) c.1134T>C (p.Ser378=) c.684T>C (p.Ser228=) | |
| 8 | g.60822692T>G | CA371310274 | CHD7 | c.3147T>G (p.Ser1049Arg) c.1717-39537T>G (n.1717-39537T>G) c.1134T>G (p.Ser378Arg) c.684T>G (p.Ser228Arg) | |
| 8 | g.60822693C>A | CA371310277 | CHD7 | c.3148C>A (p.Gln1050Lys) c.1717-39536C>A (n.1717-39536C>A) c.1135C>A (p.Gln379Lys) c.685C>A (p.Gln229Lys) | |
| 8 | g.60822693C>G | CA371310283 | CHD7 | c.3148C>G (p.Gln1050Glu) c.1717-39536C>G (n.1717-39536C>G) c.1135C>G (p.Gln379Glu) c.685C>G (p.Gln229Glu) | |
| 8 | g.60822693C>T | CA371310279 | CHD7 | c.3148C>T (p.Gln1050Ter) c.1717-39536C>T (n.1717-39536C>T) c.1135C>T (p.Gln379Ter) c.685C>T (p.Gln229Ter) | |
| 8 | g.60822694_60822697del | CA2780535426 | CHD7 | c.3149_3152del (p.Gln1050LeufsTer20) c.1717-39535_1717-39532del (n.1717-39535_1717-39532del) c.1136_1139del (p.Gln379LeufsTer20) c.686_689del (p.Gln229LeufsTer20) | |
| 8 | g.60822694A>C | CA371310284 | CHD7 | c.3149A>C (p.Gln1050Pro) c.1717-39535A>C (n.1717-39535A>C) c.1136A>C (p.Gln379Pro) c.686A>C (p.Gln229Pro) | |
| 8 | g.60822694A>G | CA371310294 | CHD7 | c.3149A>G (p.Gln1050Arg) c.1717-39535A>G (n.1717-39535A>G) c.1136A>G (p.Gln379Arg) c.686A>G (p.Gln229Arg) | gnomAD v4 |
| 8 | g.60822694A>T | CA371310286 | CHD7 | c.3149A>T (p.Gln1050Leu) c.1717-39535A>T (n.1717-39535A>T) c.1136A>T (p.Gln379Leu) c.686A>T (p.Gln229Leu) | |
| 8 | g.60822694_60822701delinsGTC | CA2695201473 | CHD7 | c.3149_3156delinsGTC (p.Gln1050ArgfsTer9) c.1717-39535_1717-39528delinsGTC (n.1717-39535_1717-39528delinsGTC) c.1136_1143delinsGTC (p.Gln379ArgfsTer9) c.686_693delinsGTC (p.Gln229ArgfsTer9) | ClinVar |
| 8 | g.60822695A>C | CA371310296 | CHD7 | c.3150A>C (p.Gln1050His) c.1717-39534A>C (n.1717-39534A>C) c.1137A>C (p.Gln379His) c.687A>C (p.Gln229His) | gnomAD v4 |
| 8 | g.60822695A>G | CA461104802 | CHD7 | c.3150A>G (p.Gln1050=) c.1717-39534A>G (n.1717-39534A>G) c.1137A>G (p.Gln379=) c.687A>G (p.Gln229=) | |
| 8 | g.60822695A>T | CA371310300 | CHD7 | c.3150A>T (p.Gln1050His) c.1717-39534A>T (n.1717-39534A>T) c.1137A>T (p.Gln379His) c.687A>T (p.Gln229His) | |
| 8 | g.60822696G>A | CA4759888 | CHD7 | c.3151G>A (p.Ala1051Thr) c.1717-39533G>A (n.1717-39533G>A) c.1138G>A (p.Ala380Thr) c.688G>A (p.Ala230Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60822696G>C | CA371310302 | CHD7 | c.3151G>C (p.Ala1051Pro) c.1717-39533G>C (n.1717-39533G>C) c.1138G>C (p.Ala380Pro) c.688G>C (p.Ala230Pro) | |
| 8 | g.60822696G= | CA1788144799 | CHD7 | c.3151G= (p.Ala1051=) c.1717-39533G= (n.1717-39533G=) c.1138G= (p.Ala380=) c.688G= (p.Ala230=) | |
| 8 | g.60822696G>T | CA371310304 | CHD7 | c.3151G>T (p.Ala1051Ser) c.1717-39533G>T (n.1717-39533G>T) c.1138G>T (p.Ala380Ser) c.688G>T (p.Ala230Ser) | |
| 8 | g.60822697C>A | CA371310308 | CHD7 | c.3152C>A (p.Ala1051Asp) c.1717-39532C>A (n.1717-39532C>A) c.1139C>A (p.Ala380Asp) c.689C>A (p.Ala230Asp) | |
| 8 | g.60822697C= | CA1788144800 | CHD7 | c.3152C= (p.Ala1051=) c.1717-39532C= (n.1717-39532C=) c.1139C= (p.Ala380=) c.689C= (p.Ala230=) | |
| 8 | g.60822697C>G | CA371310309 | CHD7 | c.3152C>G (p.Ala1051Gly) c.1717-39532C>G (n.1717-39532C>G) c.1139C>G (p.Ala380Gly) c.689C>G (p.Ala230Gly) | |
| 8 | g.60822697C>T | CA371310311 | CHD7 | c.3152C>T (p.Ala1051Val) c.1717-39532C>T (n.1717-39532C>T) c.1139C>T (p.Ala380Val) c.689C>T (p.Ala230Val) | dbSNP |
| 8 | g.60822698T>A | CA461104807 | CHD7 | c.3153T>A (p.Ala1051=) c.1717-39531T>A (n.1717-39531T>A) c.1140T>A (p.Ala380=) c.690T>A (p.Ala230=) | |
| 8 | g.60822698T>C | CA461104808 | CHD7 | c.3153T>C (p.Ala1051=) c.1717-39531T>C (n.1717-39531T>C) c.1140T>C (p.Ala380=) c.690T>C (p.Ala230=) | |
| 8 | g.60822698T>G | CA461104809 | CHD7 | c.3153T>G (p.Ala1051=) c.1717-39531T>G (n.1717-39531T>G) c.1140T>G (p.Ala380=) c.690T>G (p.Ala230=) | |
| 8 | g.60822699A>C | CA371310314 | CHD7 | c.3154A>C (p.Ser1052Arg) c.1717-39530A>C (n.1717-39530A>C) c.1141A>C (p.Ser381Arg) c.691A>C (p.Ser231Arg) | |
| 8 | g.60822699A>G | CA371310315 | CHD7 | c.3154A>G (p.Ser1052Gly) c.1717-39530A>G (n.1717-39530A>G) c.1141A>G (p.Ser381Gly) c.691A>G (p.Ser231Gly) | |
| 8 | g.60822699A>T | CA371310316 | CHD7 | c.3154A>T (p.Ser1052Cys) c.1717-39530A>T (n.1717-39530A>T) c.1141A>T (p.Ser381Cys) c.691A>T (p.Ser231Cys) | |
| 8 | g.60822699_60822700del | CA2780535428 | CHD7 | c.3154_3155del (p.Arg1053SerfsTer7) c.1717-39530_1717-39529del (n.1717-39530_1717-39529del) c.1141_1142del (p.Arg382SerfsTer7) c.691_692del (p.Arg232SerfsTer7) | |
| 8 | g.60822700G>A | CA371310319 | CHD7 | c.3155G>A (p.Ser1052Asn) c.1717-39529G>A (n.1717-39529G>A) c.1142G>A (p.Ser381Asn) c.692G>A (p.Ser231Asn) | gnomAD v4 |
| 8 | g.60822700G>C | CA177334797 | CHD7 | c.3155G>C (p.Ser1052Thr) c.1717-39529G>C (n.1717-39529G>C) c.1142G>C (p.Ser381Thr) c.692G>C (p.Ser231Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60822700G= | CA1788144801 | CHD7 | c.3155G= (p.Ser1052=) c.1717-39529G= (n.1717-39529G=) c.1142G= (p.Ser381=) c.692G= (p.Ser231=) | |
| 8 | g.60822700G>T | CA371310322 | CHD7 | c.3155G>T (p.Ser1052Ile) c.1717-39529G>T (n.1717-39529G>T) c.1142G>T (p.Ser381Ile) c.692G>T (p.Ser231Ile) | |
| 8 | g.60822701T>A | CA371310327 | CHD7 | c.3156T>A (p.Ser1052Arg) c.1717-39528T>A (n.1717-39528T>A) c.1143T>A (p.Ser381Arg) c.693T>A (p.Ser231Arg) | |
| 8 | g.60822701T>C | CA461104813 | CHD7 | c.3156T>C (p.Ser1052=) c.1717-39528T>C (n.1717-39528T>C) c.1143T>C (p.Ser381=) c.693T>C (p.Ser231=) | |
| 8 | g.60822701T>G | CA371310324 | CHD7 | c.3156T>G (p.Ser1052Arg) c.1717-39528T>G (n.1717-39528T>G) c.1143T>G (p.Ser381Arg) c.693T>G (p.Ser231Arg) | |
| 8 | g.60822702C>A | CA371310328 | CHD7 | c.3157C>A (p.Arg1053Ser) c.1717-39527C>A (n.1717-39527C>A) c.1144C>A (p.Arg382Ser) c.694C>A (p.Arg232Ser) | |
| 8 | g.60822702C= | CA1788144802 | CHD7 | c.3157C= (p.Arg1053=) c.1717-39527C= (n.1717-39527C=) c.1144C= (p.Arg382=) c.694C= (p.Arg232=) | |
| 8 | g.60822702C>G | CA371310329 | CHD7 | c.3157C>G (p.Arg1053Gly) c.1717-39527C>G (n.1717-39527C>G) c.1144C>G (p.Arg382Gly) c.694C>G (p.Arg232Gly) | |
| 8 | g.60822702C>T | CA16618660 | CHD7 | c.3157C>T (p.Arg1053Cys) c.1717-39527C>T (n.1717-39527C>T) c.1144C>T (p.Arg382Cys) c.694C>T (p.Arg232Cys) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60822703G>A | CA371310330 | CHD7 | c.3158G>A (p.Arg1053His) c.1717-39526G>A (n.1717-39526G>A) c.1145G>A (p.Arg382His) c.695G>A (p.Arg232His) | ClinVar gnomAD v4 |
| 8 | g.60822703G>C | CA371310331 | CHD7 | c.3158G>C (p.Arg1053Pro) c.1717-39526G>C (n.1717-39526G>C) c.1145G>C (p.Arg382Pro) c.695G>C (p.Arg232Pro) | |
| 8 | g.60822703G>T | CA371310332 | CHD7 | c.3158G>T (p.Arg1053Leu) c.1717-39526G>T (n.1717-39526G>T) c.1145G>T (p.Arg382Leu) c.695G>T (p.Arg232Leu) | |
| 8 | g.60822704T>A | CA461104820 | CHD7 | c.3159T>A (p.Arg1053=) c.1717-39525T>A (n.1717-39525T>A) c.1146T>A (p.Arg382=) c.696T>A (p.Arg232=) | |
| 8 | g.60822704T>C | CA461104821 | CHD7 | c.3159T>C (p.Arg1053=) c.1717-39525T>C (n.1717-39525T>C) c.1146T>C (p.Arg382=) c.696T>C (p.Arg232=) | |
| 8 | g.60822704T>G | CA461104822 | CHD7 | c.3159T>G (p.Arg1053=) c.1717-39525T>G (n.1717-39525T>G) c.1146T>G (p.Arg382=) c.696T>G (p.Arg232=) | |
| 8 | g.60822705C>A | CA461104823 | CHD7 | c.3160C>A (p.Arg1054=) c.1717-39524C>A (n.1717-39524C>A) c.1147C>A (p.Arg383=) c.697C>A (p.Arg233=) | |
| 8 | g.60822705C= | CA1788144803 | CHD7 | c.3160C= (p.Arg1054=) c.1717-39524C= (n.1717-39524C=) c.1147C= (p.Arg383=) c.697C= (p.Arg233=) | |
| 8 | g.60822705C>G | CA371310334 | CHD7 | c.3160C>G (p.Arg1054Gly) c.1717-39524C>G (n.1717-39524C>G) c.1147C>G (p.Arg383Gly) c.697C>G (p.Arg233Gly) | |
| 8 | g.60822705C>T | CA371310340 | CHD7 | c.3160C>T (p.Arg1054Trp) c.1717-39524C>T (n.1717-39524C>T) c.1147C>T (p.Arg383Trp) c.697C>T (p.Arg233Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60822706G>A | CA177334798 | CHD7 | c.3161G>A (p.Arg1054Gln) c.1717-39523G>A (n.1717-39523G>A) c.1148G>A (p.Arg383Gln) c.698G>A (p.Arg233Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60822706G>C | CA371310342 | CHD7 | c.3161G>C (p.Arg1054Pro) c.1717-39523G>C (n.1717-39523G>C) c.1148G>C (p.Arg383Pro) c.698G>C (p.Arg233Pro) | |
| 8 | g.60822706G= | CA1788144804 | CHD7 | c.3161G= (p.Arg1054=) c.1717-39523G= (n.1717-39523G=) c.1148G= (p.Arg383=) c.698G= (p.Arg233=) | |
| 8 | g.60822706G>T | CA371310345 | CHD7 | c.3161G>T (p.Arg1054Leu) c.1717-39523G>T (n.1717-39523G>T) c.1148G>T (p.Arg383Leu) c.698G>T (p.Arg233Leu) | |
| 8 | g.60822707G>A | CA461104827 | CHD7 | c.3162G>A (p.Arg1054=) c.1717-39522G>A (n.1717-39522G>A) c.1149G>A (p.Arg383=) c.699G>A (p.Arg233=) | |
| 8 | g.60822707G>C | CA461104828 | CHD7 | c.3162G>C (p.Arg1054=) c.1717-39522G>C (n.1717-39522G>C) c.1149G>C (p.Arg383=) c.699G>C (p.Arg233=) | |
| 8 | g.60822707G>T | CA461104829 | CHD7 | c.3162G>T (p.Arg1054=) c.1717-39522G>T (n.1717-39522G>T) c.1149G>T (p.Arg383=) c.699G>T (p.Arg233=) | |
| 8 | g.60822708A= | CA1788144805 | CHD7 | c.3163A= (p.Thr1055=) c.1717-39521A= (n.1717-39521A=) c.1150A= (p.Thr384=) c.700A= (p.Thr234=) | |
| 8 | g.60822708A>C | CA371310361 | CHD7 | c.3163A>C (p.Thr1055Pro) c.1717-39521A>C (n.1717-39521A>C) c.1150A>C (p.Thr384Pro) c.700A>C (p.Thr234Pro) | |
| 8 | g.60822708A>G | CA371310352 | CHD7 | c.3163A>G (p.Thr1055Ala) c.1717-39521A>G (n.1717-39521A>G) c.1150A>G (p.Thr384Ala) c.700A>G (p.Thr234Ala) | dbSNP |
| 8 | g.60822708A>T | CA371310348 | CHD7 | c.3163A>T (p.Thr1055Ser) c.1717-39521A>T (n.1717-39521A>T) c.1150A>T (p.Thr384Ser) c.700A>T (p.Thr234Ser) | |
| 8 | g.60822709C>A | CA371310364 | CHD7 | c.3164C>A (p.Thr1055Asn) c.1717-39520C>A (n.1717-39520C>A) c.1151C>A (p.Thr384Asn) c.701C>A (p.Thr234Asn) | |
| 8 | g.60822709C>G | CA371310365 | CHD7 | c.3164C>G (p.Thr1055Ser) c.1717-39520C>G (n.1717-39520C>G) c.1151C>G (p.Thr384Ser) c.701C>G (p.Thr234Ser) | |
| 8 | g.60822709C>T | CA371310368 | CHD7 | c.3164C>T (p.Thr1055Ile) c.1717-39520C>T (n.1717-39520C>T) c.1151C>T (p.Thr384Ile) c.701C>T (p.Thr234Ile) | |
| 8 | g.60822710del | CA2695209669 | CHD7 | c.3165del (p.Ile1056PhefsTer15) c.1717-39519del (n.1717-39519del) c.1152del (p.Ile385PhefsTer15) c.702del (p.Ile235PhefsTer15) | |
| 8 | g.60822710C>A | CA461104835 | CHD7 | c.3165C>A (p.Thr1055=) c.1717-39519C>A (n.1717-39519C>A) c.1152C>A (p.Thr384=) c.702C>A (p.Thr234=) | |
| 8 | g.60822710C= | CA1788144806 | CHD7 | c.3165C= (p.Thr1055=) c.1717-39519C= (n.1717-39519C=) c.1152C= (p.Thr384=) c.702C= (p.Thr234=) | |
| 8 | g.60822710C>G | CA461104832 | CHD7 | c.3165C>G (p.Thr1055=) c.1717-39519C>G (n.1717-39519C>G) c.1152C>G (p.Thr384=) c.702C>G (p.Thr234=) | |
| 8 | g.60822710C>T | CA461104833 | CHD7 | c.3165C>T (p.Thr1055=) c.1717-39519C>T (n.1717-39519C>T) c.1152C>T (p.Thr384=) c.702C>T (p.Thr234=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60822711del | CA2582341675 | CHD7 | c.3166del (p.Ile1056PhefsTer15) c.1717-39518del (n.1717-39518del) c.1153del (p.Ile385PhefsTer15) c.703del (p.Ile235PhefsTer15) | ClinVar |
| 8 | g.60822711A= | CA1788144807 | CHD7 | c.3166A= (p.Ile1056=) c.1717-39518A= (n.1717-39518A=) c.1153A= (p.Ile385=) c.703A= (p.Ile235=) | |
| 8 | g.60822711A>C | CA4759889 | CHD7 | c.3166A>C (p.Ile1056Leu) c.1717-39518A>C (n.1717-39518A>C) c.1153A>C (p.Ile385Leu) c.703A>C (p.Ile235Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60822711A>G | CA371310373 | CHD7 | c.3166A>G (p.Ile1056Val) c.1717-39518A>G (n.1717-39518A>G) c.1153A>G (p.Ile385Val) c.703A>G (p.Ile235Val) | |
| 8 | g.60822711A>T | CA371310377 | CHD7 | c.3166A>T (p.Ile1056Phe) c.1717-39518A>T (n.1717-39518A>T) c.1153A>T (p.Ile385Phe) c.703A>T (p.Ile235Phe) | ClinVar |
| 8 | g.60822712T>A | CA371310379 | CHD7 | c.3167T>A (p.Ile1056Asn) c.1717-39517T>A (n.1717-39517T>A) c.1154T>A (p.Ile385Asn) c.704T>A (p.Ile235Asn) | |
| 8 | g.60822712T>C | CA371310381 | CHD7 | c.3167T>C (p.Ile1056Thr) c.1717-39517T>C (n.1717-39517T>C) c.1154T>C (p.Ile385Thr) c.704T>C (p.Ile235Thr) | |
| 8 | g.60822712T>G | CA371310386 | CHD7 | c.3167T>G (p.Ile1056Ser) c.1717-39517T>G (n.1717-39517T>G) c.1154T>G (p.Ile385Ser) c.704T>G (p.Ile235Ser) | |
| 8 | g.60822713T>A | CA461104839 | CHD7 | c.3168T>A (p.Ile1056=) c.1717-39516T>A (n.1717-39516T>A) c.1155T>A (p.Ile385=) c.705T>A (p.Ile235=) | |
| 8 | g.60822713T>C | CA461104840 | CHD7 | c.3168T>C (p.Ile1056=) c.1717-39516T>C (n.1717-39516T>C) c.1155T>C (p.Ile385=) c.705T>C (p.Ile235=) | dbSNP |
| 8 | g.60822713T>G | CA371310389 | CHD7 | c.3168T>G (p.Ile1056Met) c.1717-39516T>G (n.1717-39516T>G) c.1155T>G (p.Ile385Met) c.705T>G (p.Ile235Met) | |
| 8 | g.60822713T= | CA1788144808 | CHD7 | c.3168T= (p.Ile1056=) c.1717-39516T= (n.1717-39516T=) c.1155T= (p.Ile385=) c.705T= (p.Ile235=) | |
| 8 | g.60822714C>A | CA371310391 | CHD7 | c.3169C>A (p.Gln1057Lys) c.1717-39515C>A (n.1717-39515C>A) c.1156C>A (p.Gln386Lys) c.706C>A (p.Gln236Lys) | |
| 8 | g.60822714C>G | CA371310392 | CHD7 | c.3169C>G (p.Gln1057Glu) c.1717-39515C>G (n.1717-39515C>G) c.1156C>G (p.Gln386Glu) c.706C>G (p.Gln236Glu) | |
| 8 | g.60822714C>T | CA371310395 | CHD7 | c.3169C>T (p.Gln1057Ter) c.1717-39515C>T (n.1717-39515C>T) c.1156C>T (p.Gln386Ter) c.706C>T (p.Gln236Ter) | |
| 8 | g.60822715A>C | CA371310396 | CHD7 | c.3170A>C (p.Gln1057Pro) c.1717-39514A>C (n.1717-39514A>C) c.1157A>C (p.Gln386Pro) c.707A>C (p.Gln236Pro) | |
| 8 | g.60822715A>G | CA371310403 | CHD7 | c.3170A>G (p.Gln1057Arg) c.1717-39514A>G (n.1717-39514A>G) c.1157A>G (p.Gln386Arg) c.707A>G (p.Gln236Arg) | |
| 8 | g.60822715A>T | CA371310399 | CHD7 | c.3170A>T (p.Gln1057Leu) c.1717-39514A>T (n.1717-39514A>T) c.1157A>T (p.Gln386Leu) c.707A>T (p.Gln236Leu) | |
| 8 | g.60822716G>A | CA461104268 | CHD7 | c.3171G>A (p.Gln1057=) c.1717-39513G>A (n.1717-39513G>A) c.1158G>A (p.Gln386=) c.708G>A (p.Gln236=) | gnomAD v4 |
| 8 | g.60822716G>C | CA371310405 | CHD7 | c.3171G>C (p.Gln1057His) c.1717-39513G>C (n.1717-39513G>C) c.1158G>C (p.Gln386His) c.708G>C (p.Gln236His) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60822716G= | CA1788144809 | CHD7 | c.3171G= (p.Gln1057=) c.1717-39513G= (n.1717-39513G=) c.1158G= (p.Gln386=) c.708G= (p.Gln236=) | |
| 8 | g.60822716G>T | CA371310406 | CHD7 | c.3171G>T (p.Gln1057His) c.1717-39513G>T (n.1717-39513G>T) c.1158G>T (p.Gln386His) c.708G>T (p.Gln236His) | |
| 8 | g.60822717T>A | CA371310408 | CHD7 | c.3172T>A (p.Leu1058Met) c.1717-39512T>A (n.1717-39512T>A) c.1159T>A (p.Leu387Met) c.709T>A (p.Leu237Met) | |
| 8 | g.60822717T>C | CA4759890 | CHD7 | c.3172T>C (p.Leu1058=) c.1717-39512T>C (n.1717-39512T>C) c.1159T>C (p.Leu387=) c.709T>C (p.Leu237=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60822717T>G | CA371310414 | CHD7 | c.3172T>G (p.Leu1058Val) c.1717-39512T>G (n.1717-39512T>G) c.1159T>G (p.Leu387Val) c.709T>G (p.Leu237Val) | |
| 8 | g.60822717T= | CA1788144810 | CHD7 | c.3172T= (p.Leu1058=) c.1717-39512T= (n.1717-39512T=) c.1159T= (p.Leu387=) c.709T= (p.Leu237=) | |
| 8 | g.60822718T>A | CA371310417 | CHD7 | c.3173T>A (p.Leu1058Ter) c.1717-39511T>A (n.1717-39511T>A) c.1160T>A (p.Leu387Ter) c.710T>A (p.Leu237Ter) | |
| 8 | g.60822718T>C | CA371310422 | CHD7 | c.3173T>C (p.Leu1058Ser) c.1717-39511T>C (n.1717-39511T>C) c.1160T>C (p.Leu387Ser) c.710T>C (p.Leu237Ser) | |
| 8 | g.60822718T>G | CA371310424 | CHD7 | c.3173T>G (p.Leu1058Trp) c.1717-39511T>G (n.1717-39511T>G) c.1160T>G (p.Leu387Trp) c.710T>G (p.Leu237Trp) | |
| 8 | g.60822719G>A | CA461104269 | CHD7 | c.3174G>A (p.Leu1058=) c.1717-39510G>A (n.1717-39510G>A) c.1161G>A (p.Leu387=) c.711G>A (p.Leu237=) | |
| 8 | g.60822719G>C | CA177334807 | CHD7 | c.3174G>C (p.Leu1058Phe) c.1717-39510G>C (n.1717-39510G>C) c.1161G>C (p.Leu387Phe) c.711G>C (p.Leu237Phe) | dbSNP gnomAD v4 |
| 8 | g.60822719G= | CA1788144811 | CHD7 | c.3174G= (p.Leu1058=) c.1717-39510G= (n.1717-39510G=) c.1161G= (p.Leu387=) c.711G= (p.Leu237=) | |
| 8 | g.60822719G>T | CA4759891 | CHD7 | c.3174G>T (p.Leu1058Phe) c.1717-39510G>T (n.1717-39510G>T) c.1161G>T (p.Leu387Phe) c.711G>T (p.Leu237Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60822720T>A | CA371310431 | CHD7 | c.3175T>A (p.Tyr1059Asn) c.1717-39509T>A (n.1717-39509T>A) c.1162T>A (p.Tyr388Asn) c.712T>A (p.Tyr238Asn) | |
| 8 | g.60822720T>C | CA371310432 | CHD7 | c.3175T>C (p.Tyr1059His) c.1717-39509T>C (n.1717-39509T>C) c.1162T>C (p.Tyr388His) c.712T>C (p.Tyr238His) | |
| 8 | g.60822720T>G | CA371310429 | CHD7 | c.3175T>G (p.Tyr1059Asp) c.1717-39509T>G (n.1717-39509T>G) c.1162T>G (p.Tyr388Asp) c.712T>G (p.Tyr238Asp) | |
| 8 | g.60822721A>C | CA371310437 | CHD7 | c.3176A>C (p.Tyr1059Ser) c.1717-39508A>C (n.1717-39508A>C) c.1163A>C (p.Tyr388Ser) c.713A>C (p.Tyr238Ser) | |
| 8 | g.60822721A>G | CA371310434 | CHD7 | c.3176A>G (p.Tyr1059Cys) c.1717-39508A>G (n.1717-39508A>G) c.1163A>G (p.Tyr388Cys) c.713A>G (p.Tyr238Cys) | gnomAD v4 |
| 8 | g.60822721A>T | CA371310435 | CHD7 | c.3176A>T (p.Tyr1059Phe) c.1717-39508A>T (n.1717-39508A>T) c.1163A>T (p.Tyr388Phe) c.713A>T (p.Tyr238Phe) | |
| 8 | g.60822722T>A | CA371310439 | CHD7 | c.3177T>A (p.Tyr1059Ter) c.1717-39507T>A (n.1717-39507T>A) c.1164T>A (p.Tyr388Ter) c.714T>A (p.Tyr238Ter) | |
| 8 | g.60822722T>C | CA461104270 | CHD7 | c.3177T>C (p.Tyr1059=) c.1717-39507T>C (n.1717-39507T>C) c.1164T>C (p.Tyr388=) c.714T>C (p.Tyr238=) | |
| 8 | g.60822722T>G | CA371310441 | CHD7 | c.3177T>G (p.Tyr1059Ter) c.1717-39507T>G (n.1717-39507T>G) c.1164T>G (p.Tyr388Ter) c.714T>G (p.Tyr238Ter) | |
| 8 | g.60822723G>A | CA371310442 | CHD7 | c.3178G>A (p.Glu1060Lys) c.1717-39506G>A (n.1717-39506G>A) c.1165G>A (p.Glu389Lys) c.715G>A (p.Glu239Lys) | COSMIC |
| 8 | g.60822723G>C | CA371310444 | CHD7 | c.3178G>C (p.Glu1060Gln) c.1717-39506G>C (n.1717-39506G>C) c.1165G>C (p.Glu389Gln) c.715G>C (p.Glu239Gln) | |
| 8 | g.60822723G>T | CA371310446 | CHD7 | c.3178G>T (p.Glu1060Ter) c.1717-39506G>T (n.1717-39506G>T) c.1165G>T (p.Glu389Ter) c.715G>T (p.Glu239Ter) | |
| 8 | g.60822724A>C | CA371310451 | CHD7 | c.3179A>C (p.Glu1060Ala) c.1717-39505A>C (n.1717-39505A>C) c.1166A>C (p.Glu389Ala) c.716A>C (p.Glu239Ala) | |
| 8 | g.60822724A>G | CA371310453 | CHD7 | c.3179A>G (p.Glu1060Gly) c.1717-39505A>G (n.1717-39505A>G) c.1166A>G (p.Glu389Gly) c.716A>G (p.Glu239Gly) | |
| 8 | g.60822724A>T | CA371310454 | CHD7 | c.3179A>T (p.Glu1060Val) c.1717-39505A>T (n.1717-39505A>T) c.1166A>T (p.Glu389Val) c.716A>T (p.Glu239Val) | |
| 8 | g.60822725A>C | CA371310455 | CHD7 | c.3180A>C (p.Glu1060Asp) c.1717-39504A>C (n.1717-39504A>C) c.1167A>C (p.Glu389Asp) c.717A>C (p.Glu239Asp) | |
| 8 | g.60822725A>G | CA461104271 | CHD7 | c.3180A>G (p.Glu1060=) c.1717-39504A>G (n.1717-39504A>G) c.1167A>G (p.Glu389=) c.717A>G (p.Glu239=) | |
| 8 | g.60822725A>T | CA371310456 | CHD7 | c.3180A>T (p.Glu1060Asp) c.1717-39504A>T (n.1717-39504A>T) c.1167A>T (p.Glu389Asp) c.717A>T (p.Glu239Asp) | |
| 8 | g.60822726A= | CA1788144812 | CHD7 | c.3181A= (p.Met1061=) c.1717-39503A= (n.1717-39503A=) c.1168A= (p.Met390=) c.718A= (p.Met240=) | |
| 8 | g.60822726A>C | CA371310459 | CHD7 | c.3181A>C (p.Met1061Leu) c.1717-39503A>C (n.1717-39503A>C) c.1168A>C (p.Met390Leu) c.718A>C (p.Met240Leu) | |
| 8 | g.60822726A>G | CA371310457 | CHD7 | c.3181A>G (p.Met1061Val) c.1717-39503A>G (n.1717-39503A>G) c.1168A>G (p.Met390Val) c.718A>G (p.Met240Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60822726A>T | CA371310458 | CHD7 | c.3181A>T (p.Met1061Leu) c.1717-39503A>T (n.1717-39503A>T) c.1168A>T (p.Met390Leu) c.718A>T (p.Met240Leu) | |
| 8 | g.60822727T>A | CA371310460 | CHD7 | c.3182T>A (p.Met1061Lys) c.1717-39502T>A (n.1717-39502T>A) c.1169T>A (p.Met390Lys) c.719T>A (p.Met240Lys) | |
| 8 | g.60822727T>C | CA371310461 | CHD7 | c.3182T>C (p.Met1061Thr) c.1717-39502T>C (n.1717-39502T>C) c.1169T>C (p.Met390Thr) c.719T>C (p.Met240Thr) | |
| 8 | g.60822727T>G | CA371310463 | CHD7 | c.3182T>G (p.Met1061Arg) c.1717-39502T>G (n.1717-39502T>G) c.1169T>G (p.Met390Arg) c.719T>G (p.Met240Arg) | |
| 8 | g.60822728G>A | CA371310464 | CHD7 | c.3183G>A (p.Met1061Ile) c.1717-39501G>A (n.1717-39501G>A) c.1170G>A (p.Met390Ile) c.720G>A (p.Met240Ile) | |
| 8 | g.60822728G>C | CA371310466 | CHD7 | c.3183G>C (p.Met1061Ile) c.1717-39501G>C (n.1717-39501G>C) c.1170G>C (p.Met390Ile) c.720G>C (p.Met240Ile) | |
| 8 | g.60822728G>T | CA371310467 | CHD7 | c.3183G>T (p.Met1061Ile) c.1717-39501G>T (n.1717-39501G>T) c.1170G>T (p.Met390Ile) c.720G>T (p.Met240Ile) | |
| 8 | g.60822729T>A | CA371310469 | CHD7 | c.3184T>A (p.Tyr1062Asn) c.1717-39500T>A (n.1717-39500T>A) c.1171T>A (p.Tyr391Asn) c.721T>A (p.Tyr241Asn) | |
| 8 | g.60822729T>C | CA371310470 | CHD7 | c.3184T>C (p.Tyr1062His) c.1717-39500T>C (n.1717-39500T>C) c.1171T>C (p.Tyr391His) c.721T>C (p.Tyr241His) | |
| 8 | g.60822729T>G | CA371310472 | CHD7 | c.3184T>G (p.Tyr1062Asp) c.1717-39500T>G (n.1717-39500T>G) c.1171T>G (p.Tyr391Asp) c.721T>G (p.Tyr241Asp) | |
| 8 | g.60822730A>C | CA371310473 | CHD7 | c.3185A>C (p.Tyr1062Ser) c.1717-39499A>C (n.1717-39499A>C) c.1172A>C (p.Tyr391Ser) c.722A>C (p.Tyr241Ser) | |
| 8 | g.60822730A>G | CA371310475 | CHD7 | c.3185A>G (p.Tyr1062Cys) c.1717-39499A>G (n.1717-39499A>G) c.1172A>G (p.Tyr391Cys) c.722A>G (p.Tyr241Cys) | gnomAD v4 |
| 8 | g.60822730A>T | CA371310476 | CHD7 | c.3185A>T (p.Tyr1062Phe) c.1717-39499A>T (n.1717-39499A>T) c.1172A>T (p.Tyr391Phe) c.722A>T (p.Tyr241Phe) | |
| 8 | g.60822731C>A | CA371310479 | CHD7 | c.3186C>A (p.Tyr1062Ter) c.1717-39498C>A (n.1717-39498C>A) c.1173C>A (p.Tyr391Ter) c.723C>A (p.Tyr241Ter) | |
| 8 | g.60822731C>G | CA371310478 | CHD7 | c.3186C>G (p.Tyr1062Ter) c.1717-39498C>G (n.1717-39498C>G) c.1173C>G (p.Tyr391Ter) c.723C>G (p.Tyr241Ter) | |
| 8 | g.60822731C>T | CA461104272 | CHD7 | c.3186C>T (p.Tyr1062=) c.1717-39498C>T (n.1717-39498C>T) c.1173C>T (p.Tyr391=) c.723C>T (p.Tyr241=) | |
| 8 | g.60822732T>A | CA371310480 | CHD7 | c.3187T>A (p.Phe1063Ile) c.1717-39497T>A (n.1717-39497T>A) c.1174T>A (p.Phe392Ile) c.724T>A (p.Phe242Ile) | |
| 8 | g.60822732T>C | CA371310481 | CHD7 | c.3187T>C (p.Phe1063Leu) c.1717-39497T>C (n.1717-39497T>C) c.1174T>C (p.Phe392Leu) c.724T>C (p.Phe242Leu) | |
| 8 | g.60822732T>G | CA371310482 | CHD7 | c.3187T>G (p.Phe1063Val) c.1717-39497T>G (n.1717-39497T>G) c.1174T>G (p.Phe392Val) c.724T>G (p.Phe242Val) | gnomAD v4 |
| 8 | g.60822733T>A | CA371310484 | CHD7 | c.3188T>A (p.Phe1063Tyr) c.1717-39496T>A (n.1717-39496T>A) c.1175T>A (p.Phe392Tyr) c.725T>A (p.Phe242Tyr) | |
| 8 | g.60822733T>C | CA371310486 | CHD7 | c.3188T>C (p.Phe1063Ser) c.1717-39496T>C (n.1717-39496T>C) c.1175T>C (p.Phe392Ser) c.725T>C (p.Phe242Ser) | |
| 8 | g.60822733T>G | CA371310487 | CHD7 | c.3188T>G (p.Phe1063Cys) c.1717-39496T>G (n.1717-39496T>G) c.1175T>G (p.Phe392Cys) c.725T>G (p.Phe242Cys) | |
| 8 | g.60822734C>A | CA371310488 | CHD7 | c.3189C>A (p.Phe1063Leu) c.1717-39495C>A (n.1717-39495C>A) c.1176C>A (p.Phe392Leu) c.726C>A (p.Phe242Leu) | |
| 8 | g.60822734C>G | CA371310490 | CHD7 | c.3189C>G (p.Phe1063Leu) c.1717-39495C>G (n.1717-39495C>G) c.1176C>G (p.Phe392Leu) c.726C>G (p.Phe242Leu) | |
| 8 | g.60822734C>T | CA461104273 | CHD7 | c.3189C>T (p.Phe1063=) c.1717-39495C>T (n.1717-39495C>T) c.1176C>T (p.Phe392=) c.726C>T (p.Phe242=) | |
| 8 | g.60822735A= | CA1788144813 | CHD7 | c.3190A= (p.Lys1064=) c.1717-39494A= (n.1717-39494A=) c.1177A= (p.Lys393=) c.727A= (p.Lys243=) | |
| 8 | g.60822735A>C | CA371310491 | CHD7 | c.3190A>C (p.Lys1064Gln) c.1717-39494A>C (n.1717-39494A>C) c.1177A>C (p.Lys393Gln) c.727A>C (p.Lys243Gln) | |
| 8 | g.60822735A>G | CA4759892 | CHD7 | c.3190A>G (p.Lys1064Glu) c.1717-39494A>G (n.1717-39494A>G) c.1177A>G (p.Lys393Glu) c.727A>G (p.Lys243Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60822735A>T | CA371310494 | CHD7 | c.3190A>T (p.Lys1064Ter) c.1717-39494A>T (n.1717-39494A>T) c.1177A>T (p.Lys393Ter) c.727A>T (p.Lys243Ter) | |
| 8 | g.60822736A= | CA1788144814 | CHD7 | c.3191A= (p.Lys1064=) c.1717-39493A= (n.1717-39493A=) c.1178A= (p.Lys393=) c.728A= (p.Lys243=) | |
| 8 | g.60822736A>C | CA371310495 | CHD7 | c.3191A>C (p.Lys1064Thr) c.1717-39493A>C (n.1717-39493A>C) c.1178A>C (p.Lys393Thr) c.728A>C (p.Lys243Thr) | |
| 8 | g.60822736A>G | CA371310497 | CHD7 | c.3191A>G (p.Lys1064Arg) c.1717-39493A>G (n.1717-39493A>G) c.1178A>G (p.Lys393Arg) c.728A>G (p.Lys243Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60822736A>T | CA4759893 | CHD7 | c.3191A>T (p.Lys1064Ile) c.1717-39493A>T (n.1717-39493A>T) c.1178A>T (p.Lys393Ile) c.728A>T (p.Lys243Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60822737A>C | CA371310502 | CHD7 | c.3192A>C (p.Lys1064Asn) c.1717-39492A>C (n.1717-39492A>C) c.1179A>C (p.Lys393Asn) c.729A>C (p.Lys243Asn) | |
| 8 | g.60822737A>G | CA461104274 | CHD7 | c.3192A>G (p.Lys1064=) c.1717-39492A>G (n.1717-39492A>G) c.1179A>G (p.Lys393=) c.729A>G (p.Lys243=) | gnomAD v4 |
| 8 | g.60822737A>T | CA371310501 | CHD7 | c.3192A>T (p.Lys1064Asn) c.1717-39492A>T (n.1717-39492A>T) c.1179A>T (p.Lys393Asn) c.729A>T (p.Lys243Asn) | |
| 8 | g.60822738G>A | CA371310505 | CHD7 | c.3193G>A (p.Asp1065Asn) c.1717-39491G>A (n.1717-39491G>A) c.1180G>A (p.Asp394Asn) c.730G>A (p.Asp244Asn) | |
| 8 | g.60822738G>C | CA371310508 | CHD7 | c.3193G>C (p.Asp1065His) c.1717-39491G>C (n.1717-39491G>C) c.1180G>C (p.Asp394His) c.730G>C (p.Asp244His) | |
| 8 | g.60822738G>T | CA371310511 | CHD7 | c.3193G>T (p.Asp1065Tyr) c.1717-39491G>T (n.1717-39491G>T) c.1180G>T (p.Asp394Tyr) c.730G>T (p.Asp244Tyr) | |
| 8 | g.60822739A= | CA1788144815 | CHD7 | c.3194A= (p.Asp1065=) c.1717-39490A= (n.1717-39490A=) c.1181A= (p.Asp394=) c.731A= (p.Asp244=) | |
| 8 | g.60822739A>C | CA371310513 | CHD7 | c.3194A>C (p.Asp1065Ala) c.1717-39490A>C (n.1717-39490A>C) c.1181A>C (p.Asp394Ala) c.731A>C (p.Asp244Ala) | |
| 8 | g.60822739A>G | CA371310516 | CHD7 | c.3194A>G (p.Asp1065Gly) c.1717-39490A>G (n.1717-39490A>G) c.1181A>G (p.Asp394Gly) c.731A>G (p.Asp244Gly) | gnomAD v4 |
| 8 | g.60822739A>T | CA4759894 | CHD7 | c.3194A>T (p.Asp1065Val) c.1717-39490A>T (n.1717-39490A>T) c.1181A>T (p.Asp394Val) c.731A>T (p.Asp244Val) | dbSNP ExAC gnomAD v2 |
| 8 | g.60822740T>A | CA371310519 | CHD7 | c.3195T>A (p.Asp1065Glu) c.1717-39489T>A (n.1717-39489T>A) c.1182T>A (p.Asp394Glu) c.732T>A (p.Asp244Glu) | |
| 8 | g.60822740T>C | CA461104275 | CHD7 | c.3195T>C (p.Asp1065=) c.1717-39489T>C (n.1717-39489T>C) c.1182T>C (p.Asp394=) c.732T>C (p.Asp244=) | |
| 8 | g.60822740T>G | CA371310520 | CHD7 | c.3195T>G (p.Asp1065Glu) c.1717-39489T>G (n.1717-39489T>G) c.1182T>G (p.Asp394Glu) c.732T>G (p.Asp244Glu) | |
| 8 | g.60822741C>A | CA371310523 | CHD7 | c.3196C>A (p.Pro1066Thr) c.1717-39488C>A (n.1717-39488C>A) c.1183C>A (p.Pro395Thr) c.733C>A (p.Pro245Thr) | gnomAD v4 |
| 8 | g.60822741C>G | CA371310526 | CHD7 | c.3196C>G (p.Pro1066Ala) c.1717-39488C>G (n.1717-39488C>G) c.1183C>G (p.Pro395Ala) c.733C>G (p.Pro245Ala) | |
| 8 | g.60822741C>T | CA371310531 | CHD7 | c.3196C>T (p.Pro1066Ser) c.1717-39488C>T (n.1717-39488C>T) c.1183C>T (p.Pro395Ser) c.733C>T (p.Pro245Ser) | COSMIC |
| 8 | g.60822742C>A | CA371310534 | CHD7 | c.3197C>A (p.Pro1066His) c.1717-39487C>A (n.1717-39487C>A) c.1184C>A (p.Pro395His) c.734C>A (p.Pro245His) | |
| 8 | g.60822742C>G | CA371310537 | CHD7 | c.3197C>G (p.Pro1066Arg) c.1717-39487C>G (n.1717-39487C>G) c.1184C>G (p.Pro395Arg) c.734C>G (p.Pro245Arg) | |
| 8 | g.60822742C>T | CA371310538 | CHD7 | c.3197C>T (p.Pro1066Leu) c.1717-39487C>T (n.1717-39487C>T) c.1184C>T (p.Pro395Leu) c.734C>T (p.Pro245Leu) | |
| 8 | g.60822743C>A | CA461104276 | CHD7 | c.3198C>A (p.Pro1066=) c.1717-39486C>A (n.1717-39486C>A) c.1185C>A (p.Pro395=) c.735C>A (p.Pro245=) | COSMIC |
| 8 | g.60822743C= | CA1788144816 | CHD7 | c.3198C= (p.Pro1066=) c.1717-39486C= (n.1717-39486C=) c.1185C= (p.Pro395=) c.735C= (p.Pro245=) | |
| 8 | g.60822743C>G | CA461104278 | CHD7 | c.3198C>G (p.Pro1066=) c.1717-39486C>G (n.1717-39486C>G) c.1185C>G (p.Pro395=) c.735C>G (p.Pro245=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60822743C>T | CA461104277 | CHD7 | c.3198C>T (p.Pro1066=) c.1717-39486C>T (n.1717-39486C>T) c.1185C>T (p.Pro395=) c.735C>T (p.Pro245=) | gnomAD v4 |
| 8 | g.60822744C>A | CA371310544 | CHD7 | c.3199C>A (p.Gln1067Lys) c.1717-39485C>A (n.1717-39485C>A) c.1186C>A (p.Gln396Lys) c.736C>A (p.Gln246Lys) | |
| 8 | g.60822744C>G | CA371310546 | CHD7 | c.3199C>G (p.Gln1067Glu) c.1717-39485C>G (n.1717-39485C>G) c.1186C>G (p.Gln396Glu) c.736C>G (p.Gln246Glu) | |
| 8 | g.60822744C>T | CA371310541 | CHD7 | c.3199C>T (p.Gln1067Ter) c.1717-39485C>T (n.1717-39485C>T) c.1186C>T (p.Gln396Ter) c.736C>T (p.Gln246Ter) | |
| 8 | g.60822745A>C | CA371310551 | CHD7 | c.3200A>C (p.Gln1067Pro) c.1717-39484A>C (n.1717-39484A>C) c.1187A>C (p.Gln396Pro) c.737A>C (p.Gln246Pro) | ClinVar |
| 8 | g.60822745A>G | CA371310549 | CHD7 | c.3200A>G (p.Gln1067Arg) c.1717-39484A>G (n.1717-39484A>G) c.1187A>G (p.Gln396Arg) c.737A>G (p.Gln246Arg) | |
| 8 | g.60822745A>T | CA371310554 | CHD7 | c.3200A>T (p.Gln1067Leu) c.1717-39484A>T (n.1717-39484A>T) c.1187A>T (p.Gln396Leu) c.737A>T (p.Gln246Leu) | |
| 8 | g.60822746G>A | CA461104279 | CHD7 | c.3201G>A (p.Gln1067=) c.1717-39483G>A (n.1717-39483G>A) c.1188G>A (p.Gln396=) c.738G>A (p.Gln246=) | |
| 8 | g.60822746G>C | CA371310557 | CHD7 | c.3201G>C (p.Gln1067His) c.1717-39483G>C (n.1717-39483G>C) c.1188G>C (p.Gln396His) c.738G>C (p.Gln246His) | |
| 8 | g.60822746G>T | CA371310559 | CHD7 | c.3201G>T (p.Gln1067His) c.1717-39483G>T (n.1717-39483G>T) c.1188G>T (p.Gln396His) c.738G>T (p.Gln246His) | |
| 8 | g.60822747G>A | CA371310562 | CHD7 | c.3201+1G>A (n.3201+1G>A) c.1717-39482G>A (n.1717-39482G>A) c.1188+1G>A (n.1188+1G>A) c.738+1G>A (n.738+1G>A) | ClinVar dbSNP |
| 8 | g.60822747G>C | CA371310564 | CHD7 | c.3201+1G>C (n.3201+1G>C) c.1717-39482G>C (n.1717-39482G>C) c.1188+1G>C (n.1188+1G>C) c.738+1G>C (n.738+1G>C) | |
| 8 | g.60822747G= | CA1788144817 | CHD7 | c.3201+1G= (n.3201+1G=) c.1717-39482G= (n.1717-39482G=) c.1188+1G= (n.1188+1G=) c.738+1G= (n.738+1G=) | |
| 8 | g.60822747G>T | CA371310566 | CHD7 | c.3201+1G>T (n.3201+1G>T) c.1717-39482G>T (n.1717-39482G>T) c.1188+1G>T (n.1188+1G>T) c.738+1G>T (n.738+1G>T) | ClinVar dbSNP |
| 8 | g.60822748T>A | CA371310569 | CHD7 | c.3201+2T>A (n.3201+2T>A) c.1717-39481T>A (n.1717-39481T>A) c.1188+2T>A (n.1188+2T>A) c.738+2T>A (n.738+2T>A) | |
| 8 | g.60822748T>C | CA371310570 | CHD7 | c.3201+2T>C (n.3201+2T>C) c.1717-39481T>C (n.1717-39481T>C) c.1188+2T>C (n.1188+2T>C) c.738+2T>C (n.738+2T>C) | |
| 8 | g.60822748T>G | CA371310572 | CHD7 | c.3201+2T>G (n.3201+2T>G) c.1717-39481T>G (n.1717-39481T>G) c.1188+2T>G (n.1188+2T>G) c.738+2T>G (n.738+2T>G) | |
| 8 | g.60822748_60822749delinsTA | CA1788144818 | CHD7 | c.3201+2_3201+3delinsTA (n.3201+2_3201+3delinsTA) c.1717-39481_1717-39480delinsTA (n.1717-39481_1717-39480delinsTA) c.1188+2_1188+3delinsTA (n.1188+2_1188+3delinsTA) c.738+2_738+3delinsTA (n.738+2_738+3delinsTA) | |
| 8 | g.60822749_60822754del | CA2695209671 | CHD7 | c.3201+3_3201+8del (n.3201+3_3201+8del) c.1717-39480_1717-39475del (n.1717-39480_1717-39475del) c.1188+3_1188+8del (n.1188+3_1188+8del) c.738+3_738+8del (n.738+3_738+8del) | |
| 8 | g.60822749A= | CA1788144819 | CHD7 | c.3201+3A= (n.3201+3A=) c.1717-39480A= (n.1717-39480A=) c.1188+3A= (n.1188+3A=) c.738+3A= (n.738+3A=) | |
| 8 | g.60822749A>T | CA271297 | CHD7 | c.3201+3A>T (n.3201+3A>T) c.1717-39480A>T (n.1717-39480A>T) c.1188+3A>T (n.1188+3A>T) c.738+3A>T (n.738+3A>T) | ClinVar dbSNP |
| 8 | g.60822751del | CA209239 | CHD7 | c.3201+5del (n.3201+5del) c.1717-39478del (n.1717-39478del) c.1188+5del (n.1188+5del) c.738+5del (n.738+5del) | ClinVar dbSNP |
| 8 | g.60822750A>G | CA2695209672 | CHD7 | c.3201+4A>G (n.3201+4A>G) c.1717-39479A>G (n.1717-39479A>G) c.1188+4A>G (n.1188+4A>G) c.738+4A>G (n.738+4A>G) |