| 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) |