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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.189808474G>A | CA355750746 | TP63 | c.527G>A (p.Ser176Asn) c.245G>A (p.Ser82Asn) c.42+18632G>A (n.42+18632G>A) n.351G>A c.476G>A (p.Ser159Asn) c.524G>A (p.Ser175Asn) c.521G>A (p.Ser174Asn) c.488G>A (p.Ser163Asn) | dbSNP |
| 3 | g.189808474G>C | CA355750747 | TP63 | c.527G>C (p.Ser176Thr) c.245G>C (p.Ser82Thr) c.42+18632G>C (n.42+18632G>C) n.351G>C c.476G>C (p.Ser159Thr) c.524G>C (p.Ser175Thr) c.521G>C (p.Ser174Thr) c.488G>C (p.Ser163Thr) | dbSNP |
| 3 | g.189808474G>T | CA355750748 | TP63 | c.527G>T (p.Ser176Ile) c.245G>T (p.Ser82Ile) c.42+18632G>T (n.42+18632G>T) n.351G>T c.476G>T (p.Ser159Ile) c.524G>T (p.Ser175Ile) c.521G>T (p.Ser174Ile) c.488G>T (p.Ser163Ile) | |
| 3 | g.189808475T>A | CA355750749 | TP63 | c.528T>A (p.Ser176Arg) c.246T>A (p.Ser82Arg) c.42+18633T>A (n.42+18633T>A) n.352T>A c.477T>A (p.Ser159Arg) c.525T>A (p.Ser175Arg) c.522T>A (p.Ser174Arg) c.489T>A (p.Ser163Arg) | |
| 3 | g.189808475T>C | CA437636958 | TP63 | c.528T>C (p.Ser176=) c.246T>C (p.Ser82=) c.42+18633T>C (n.42+18633T>C) n.352T>C c.477T>C (p.Ser159=) c.525T>C (p.Ser175=) c.522T>C (p.Ser174=) c.489T>C (p.Ser163=) | |
| 3 | g.189808475T>G | CA355750750 | TP63 | c.528T>G (p.Ser176Arg) c.246T>G (p.Ser82Arg) c.42+18633T>G (n.42+18633T>G) n.352T>G c.477T>G (p.Ser159Arg) c.525T>G (p.Ser175Arg) c.522T>G (p.Ser174Arg) c.489T>G (p.Ser163Arg) | |
| 3 | g.189808476T>A | CA355750751 | TP63 | c.529T>A (p.Phe177Ile) c.247T>A (p.Phe83Ile) c.42+18634T>A (n.42+18634T>A) n.353T>A c.478T>A (p.Phe160Ile) c.526T>A (p.Phe176Ile) c.523T>A (p.Phe175Ile) c.490T>A (p.Phe164Ile) | |
| 3 | g.189808476T>C | CA355750752 | TP63 | c.529T>C (p.Phe177Leu) c.247T>C (p.Phe83Leu) c.42+18634T>C (n.42+18634T>C) n.353T>C c.478T>C (p.Phe160Leu) c.526T>C (p.Phe176Leu) c.523T>C (p.Phe175Leu) c.490T>C (p.Phe164Leu) | dbSNP |
| 3 | g.189808476T>G | CA2752159 | TP63 | c.529T>G (p.Phe177Val) c.247T>G (p.Phe83Val) c.42+18634T>G (n.42+18634T>G) n.353T>G c.478T>G (p.Phe160Val) c.526T>G (p.Phe176Val) c.523T>G (p.Phe175Val) c.490T>G (p.Phe164Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.189808476T= | CA1428507667 | TP63 | c.529T= (p.Phe177=) c.247T= (p.Phe83=) c.42+18634T= (n.42+18634T=) n.353T= c.478T= (p.Phe160=) c.526T= (p.Phe176=) c.523T= (p.Phe175=) c.490T= (p.Phe164=) | |
| 3 | g.189808477T>A | CA355750753 | TP63 | c.530T>A (p.Phe177Tyr) c.248T>A (p.Phe83Tyr) c.42+18635T>A (n.42+18635T>A) n.354T>A c.479T>A (p.Phe160Tyr) c.527T>A (p.Phe176Tyr) c.524T>A (p.Phe175Tyr) c.491T>A (p.Phe164Tyr) | |
| 3 | g.189808477T>C | CA355750754 | TP63 | c.530T>C (p.Phe177Ser) c.248T>C (p.Phe83Ser) c.42+18635T>C (n.42+18635T>C) n.354T>C c.479T>C (p.Phe160Ser) c.527T>C (p.Phe176Ser) c.524T>C (p.Phe175Ser) c.491T>C (p.Phe164Ser) | ClinVar |
| 3 | g.189808477T>G | CA355750755 | TP63 | c.530T>G (p.Phe177Cys) c.248T>G (p.Phe83Cys) c.42+18635T>G (n.42+18635T>G) n.354T>G c.479T>G (p.Phe160Cys) c.527T>G (p.Phe176Cys) c.524T>G (p.Phe175Cys) c.491T>G (p.Phe164Cys) | |
| 3 | g.189808478C>A | CA355750756 | TP63 | c.531C>A (p.Phe177Leu) c.249C>A (p.Phe83Leu) c.42+18636C>A (n.42+18636C>A) n.355C>A c.480C>A (p.Phe160Leu) c.528C>A (p.Phe176Leu) c.525C>A (p.Phe175Leu) c.492C>A (p.Phe164Leu) | dbSNP |
| 3 | g.189808478C= | CA1428507673 | TP63 | c.531C= (p.Phe177=) c.249C= (p.Phe83=) c.42+18636C= (n.42+18636C=) n.355C= c.480C= (p.Phe160=) c.528C= (p.Phe176=) c.525C= (p.Phe175=) c.492C= (p.Phe164=) | |
| 3 | g.189808478C>G | CA355750757 | TP63 | c.531C>G (p.Phe177Leu) c.249C>G (p.Phe83Leu) c.42+18636C>G (n.42+18636C>G) n.355C>G c.480C>G (p.Phe160Leu) c.528C>G (p.Phe176Leu) c.525C>G (p.Phe175Leu) c.492C>G (p.Phe164Leu) | dbSNP gnomAD v4 |
| 3 | g.189808478C>T | CA437636959 | TP63 | c.531C>T (p.Phe177=) c.249C>T (p.Phe83=) c.42+18636C>T (n.42+18636C>T) n.355C>T c.480C>T (p.Phe160=) c.528C>T (p.Phe176=) c.525C>T (p.Phe175=) c.492C>T (p.Phe164=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.189808479G>A | CA355750758 | TP63 | c.532G>A (p.Asp178Asn) c.250G>A (p.Asp84Asn) c.42+18637G>A (n.42+18637G>A) n.356G>A c.481G>A (p.Asp161Asn) c.529G>A (p.Asp177Asn) c.526G>A (p.Asp176Asn) c.493G>A (p.Asp165Asn) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.189808479G>C | CA355750759 | TP63 | c.532G>C (p.Asp178His) c.250G>C (p.Asp84His) c.42+18637G>C (n.42+18637G>C) n.356G>C c.481G>C (p.Asp161His) c.529G>C (p.Asp177His) c.526G>C (p.Asp176His) c.493G>C (p.Asp165His) | dbSNP |
| 3 | g.189808479G= | CA1428507678 | TP63 | c.532G= (p.Asp178=) c.250G= (p.Asp84=) c.42+18637G= (n.42+18637G=) n.356G= c.481G= (p.Asp161=) c.529G= (p.Asp177=) c.526G= (p.Asp176=) c.493G= (p.Asp165=) | |
| 3 | g.189808479G>T | CA355750760 | TP63 | c.532G>T (p.Asp178Tyr) c.250G>T (p.Asp84Tyr) c.42+18637G>T (n.42+18637G>T) n.356G>T c.481G>T (p.Asp161Tyr) c.529G>T (p.Asp177Tyr) c.526G>T (p.Asp176Tyr) c.493G>T (p.Asp165Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.189808480A>C | CA355750761 | TP63 | c.533A>C (p.Asp178Ala) c.251A>C (p.Asp84Ala) c.42+18638A>C (n.42+18638A>C) n.357A>C c.482A>C (p.Asp161Ala) c.530A>C (p.Asp177Ala) c.527A>C (p.Asp176Ala) c.494A>C (p.Asp165Ala) | dbSNP |
| 3 | g.189808480A>G | CA355750762 | TP63 | c.533A>G (p.Asp178Gly) c.251A>G (p.Asp84Gly) c.42+18638A>G (n.42+18638A>G) n.357A>G c.482A>G (p.Asp161Gly) c.530A>G (p.Asp177Gly) c.527A>G (p.Asp176Gly) c.494A>G (p.Asp165Gly) | dbSNP |
| 3 | g.189808480A>T | CA355750763 | TP63 | c.533A>T (p.Asp178Val) c.251A>T (p.Asp84Val) c.42+18638A>T (n.42+18638A>T) n.357A>T c.482A>T (p.Asp161Val) c.530A>T (p.Asp177Val) c.527A>T (p.Asp176Val) c.494A>T (p.Asp165Val) | dbSNP gnomAD v4 |
| 3 | g.189808481C>A | CA355750765 | TP63 | c.534C>A (p.Asp178Glu) c.252C>A (p.Asp84Glu) c.42+18639C>A (n.42+18639C>A) n.358C>A c.483C>A (p.Asp161Glu) c.531C>A (p.Asp177Glu) c.528C>A (p.Asp176Glu) c.495C>A (p.Asp165Glu) | |
| 3 | g.189808481C>G | CA355750764 | TP63 | c.534C>G (p.Asp178Glu) c.252C>G (p.Asp84Glu) c.42+18639C>G (n.42+18639C>G) n.358C>G c.483C>G (p.Asp161Glu) c.531C>G (p.Asp177Glu) c.528C>G (p.Asp176Glu) c.495C>G (p.Asp165Glu) | dbSNP |
| 3 | g.189808481C>T | CA437636963 | TP63 | c.534C>T (p.Asp178=) c.252C>T (p.Asp84=) c.42+18639C>T (n.42+18639C>T) n.358C>T c.483C>T (p.Asp161=) c.531C>T (p.Asp177=) c.528C>T (p.Asp176=) c.495C>T (p.Asp165=) | dbSNP gnomAD v4 |
| 3 | g.189808482G>A | CA355750766 | TP63 | c.535G>A (p.Val179Met) c.253G>A (p.Val85Met) c.42+18640G>A (n.42+18640G>A) n.359G>A c.484G>A (p.Val162Met) c.532G>A (p.Val178Met) c.529G>A (p.Val177Met) c.496G>A (p.Val166Met) | dbSNP |
| 3 | g.189808482G>C | CA355750767 | TP63 | c.535G>C (p.Val179Leu) c.253G>C (p.Val85Leu) c.42+18640G>C (n.42+18640G>C) n.359G>C c.484G>C (p.Val162Leu) c.532G>C (p.Val178Leu) c.529G>C (p.Val177Leu) c.496G>C (p.Val166Leu) | dbSNP |
| 3 | g.189808482G>T | CA355750768 | TP63 | c.535G>T (p.Val179Leu) c.253G>T (p.Val85Leu) c.42+18640G>T (n.42+18640G>T) n.359G>T c.484G>T (p.Val162Leu) c.532G>T (p.Val178Leu) c.529G>T (p.Val177Leu) c.496G>T (p.Val166Leu) | |
| 3 | g.189808483T>A | CA355750769 | TP63 | c.536T>A (p.Val179Glu) c.254T>A (p.Val85Glu) c.42+18641T>A (n.42+18641T>A) n.360T>A c.485T>A (p.Val162Glu) c.533T>A (p.Val178Glu) c.530T>A (p.Val177Glu) c.497T>A (p.Val166Glu) | dbSNP |
| 3 | g.189808483T>C | CA355750770 | TP63 | c.536T>C (p.Val179Ala) c.254T>C (p.Val85Ala) c.42+18641T>C (n.42+18641T>C) n.360T>C c.485T>C (p.Val162Ala) c.533T>C (p.Val178Ala) c.530T>C (p.Val177Ala) c.497T>C (p.Val166Ala) | |
| 3 | g.189808483T>G | CA355750771 | TP63 | c.536T>G (p.Val179Gly) c.254T>G (p.Val85Gly) c.42+18641T>G (n.42+18641T>G) n.360T>G c.485T>G (p.Val162Gly) c.533T>G (p.Val178Gly) c.530T>G (p.Val177Gly) c.497T>G (p.Val166Gly) | |
| 3 | g.189808484G>A | CA437636964 | TP63 | c.537G>A (p.Val179=) c.255G>A (p.Val85=) c.42+18642G>A (n.42+18642G>A) n.361G>A c.486G>A (p.Val162=) c.534G>A (p.Val178=) c.531G>A (p.Val177=) c.498G>A (p.Val166=) | |
| 3 | g.189808484G>C | CA437636965 | TP63 | c.537G>C (p.Val179=) c.255G>C (p.Val85=) c.42+18642G>C (n.42+18642G>C) n.361G>C c.486G>C (p.Val162=) c.534G>C (p.Val178=) c.531G>C (p.Val177=) c.498G>C (p.Val166=) | dbSNP |
| 3 | g.189808484G>T | CA437636967 | TP63 | c.537G>T (p.Val179=) c.255G>T (p.Val85=) c.42+18642G>T (n.42+18642G>T) n.361G>T c.486G>T (p.Val162=) c.534G>T (p.Val178=) c.531G>T (p.Val177=) c.498G>T (p.Val166=) | COSMIC COSMIC COSMIC |
| 3 | g.189808485T>A | CA355750772 | TP63 | c.538T>A (p.Ser180Thr) c.256T>A (p.Ser86Thr) c.42+18643T>A (n.42+18643T>A) n.362T>A c.487T>A (p.Ser163Thr) c.535T>A (p.Ser179Thr) c.532T>A (p.Ser178Thr) c.499T>A (p.Ser167Thr) | |
| 3 | g.189808485T>C | CA355750773 | TP63 | c.538T>C (p.Ser180Pro) c.256T>C (p.Ser86Pro) c.42+18643T>C (n.42+18643T>C) n.362T>C c.487T>C (p.Ser163Pro) c.535T>C (p.Ser179Pro) c.532T>C (p.Ser178Pro) c.499T>C (p.Ser167Pro) | |
| 3 | g.189808485T>G | CA89711700 | TP63 | c.538T>G (p.Ser180Ala) c.256T>G (p.Ser86Ala) c.42+18643T>G (n.42+18643T>G) n.362T>G c.487T>G (p.Ser163Ala) c.535T>G (p.Ser179Ala) c.532T>G (p.Ser178Ala) c.499T>G (p.Ser167Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189808485T= | CA1428507683 | TP63 | c.538T= (p.Ser180=) c.256T= (p.Ser86=) c.42+18643T= (n.42+18643T=) n.362T= c.487T= (p.Ser163=) c.535T= (p.Ser179=) c.532T= (p.Ser178=) c.499T= (p.Ser167=) | |
| 3 | g.189808486C>A | CA355750774 | TP63 | c.539C>A (p.Ser180Tyr) c.257C>A (p.Ser86Tyr) c.42+18644C>A (n.42+18644C>A) n.363C>A c.488C>A (p.Ser163Tyr) c.536C>A (p.Ser179Tyr) c.533C>A (p.Ser178Tyr) c.500C>A (p.Ser167Tyr) | gnomAD v4 |
| 3 | g.189808486C= | CA1428507685 | TP63 | c.539C= (p.Ser180=) c.257C= (p.Ser86=) c.42+18644C= (n.42+18644C=) n.363C= c.488C= (p.Ser163=) c.536C= (p.Ser179=) c.533C= (p.Ser178=) c.500C= (p.Ser167=) | |
| 3 | g.189808486C>G | CA355750775 | TP63 | c.539C>G (p.Ser180Cys) c.257C>G (p.Ser86Cys) c.42+18644C>G (n.42+18644C>G) n.363C>G c.488C>G (p.Ser163Cys) c.536C>G (p.Ser179Cys) c.533C>G (p.Ser178Cys) c.500C>G (p.Ser167Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.189808486C>T | CA355750776 | TP63 | c.539C>T (p.Ser180Phe) c.257C>T (p.Ser86Phe) c.42+18644C>T (n.42+18644C>T) n.363C>T c.488C>T (p.Ser163Phe) c.536C>T (p.Ser179Phe) c.533C>T (p.Ser178Phe) c.500C>T (p.Ser167Phe) | |
| 3 | g.189808487C>A | CA437636971 | TP63 | c.540C>A (p.Ser180=) c.258C>A (p.Ser86=) c.42+18645C>A (n.42+18645C>A) n.364C>A c.489C>A (p.Ser163=) c.537C>A (p.Ser179=) c.534C>A (p.Ser178=) c.501C>A (p.Ser167=) | dbSNP |
| 3 | g.189808487C= | CA1428507688 | TP63 | c.540C= (p.Ser180=) c.258C= (p.Ser86=) c.42+18645C= (n.42+18645C=) n.364C= c.489C= (p.Ser163=) c.537C= (p.Ser179=) c.534C= (p.Ser178=) c.501C= (p.Ser167=) | |
| 3 | g.189808487C>G | CA437636972 | TP63 | c.540C>G (p.Ser180=) c.258C>G (p.Ser86=) c.42+18645C>G (n.42+18645C>G) n.364C>G c.489C>G (p.Ser163=) c.537C>G (p.Ser179=) c.534C>G (p.Ser178=) c.501C>G (p.Ser167=) | |
| 3 | g.189808487C>T | CA437636973 | TP63 | c.540C>T (p.Ser180=) c.258C>T (p.Ser86=) c.42+18645C>T (n.42+18645C>T) n.364C>T c.489C>T (p.Ser163=) c.537C>T (p.Ser179=) c.534C>T (p.Ser178=) c.501C>T (p.Ser167=) | ClinVar gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.189808488T>A | CA355750778 | TP63 | c.541T>A (p.Phe181Ile) c.259T>A (p.Phe87Ile) c.42+18646T>A (n.42+18646T>A) n.365T>A c.490T>A (p.Phe164Ile) c.538T>A (p.Phe180Ile) c.535T>A (p.Phe179Ile) c.502T>A (p.Phe168Ile) | |
| 3 | g.189808488T>C | CA355750779 | TP63 | c.541T>C (p.Phe181Leu) c.259T>C (p.Phe87Leu) c.42+18646T>C (n.42+18646T>C) n.365T>C c.490T>C (p.Phe164Leu) c.538T>C (p.Phe180Leu) c.535T>C (p.Phe179Leu) c.502T>C (p.Phe168Leu) | |
| 3 | g.189808488T>G | CA355750777 | TP63 | c.541T>G (p.Phe181Val) c.259T>G (p.Phe87Val) c.42+18646T>G (n.42+18646T>G) n.365T>G c.490T>G (p.Phe164Val) c.538T>G (p.Phe180Val) c.535T>G (p.Phe179Val) c.502T>G (p.Phe168Val) | gnomAD v4 |
| 3 | g.189808489T>A | CA355750780 | TP63 | c.542T>A (p.Phe181Tyr) c.260T>A (p.Phe87Tyr) c.42+18647T>A (n.42+18647T>A) n.366T>A c.491T>A (p.Phe164Tyr) c.539T>A (p.Phe180Tyr) c.536T>A (p.Phe179Tyr) c.503T>A (p.Phe168Tyr) | |
| 3 | g.189808489T>C | CA355750781 | TP63 | c.542T>C (p.Phe181Ser) c.260T>C (p.Phe87Ser) c.42+18647T>C (n.42+18647T>C) n.366T>C c.491T>C (p.Phe164Ser) c.539T>C (p.Phe180Ser) c.536T>C (p.Phe179Ser) c.503T>C (p.Phe168Ser) | |
| 3 | g.189808489T>G | CA355750782 | TP63 | c.542T>G (p.Phe181Cys) c.260T>G (p.Phe87Cys) c.42+18647T>G (n.42+18647T>G) n.366T>G c.491T>G (p.Phe164Cys) c.539T>G (p.Phe180Cys) c.536T>G (p.Phe179Cys) c.503T>G (p.Phe168Cys) | |
| 3 | g.189808490C>A | CA355750783 | TP63 | c.543C>A (p.Phe181Leu) c.261C>A (p.Phe87Leu) c.42+18648C>A (n.42+18648C>A) n.367C>A c.492C>A (p.Phe164Leu) c.540C>A (p.Phe180Leu) c.537C>A (p.Phe179Leu) c.504C>A (p.Phe168Leu) | dbSNP gnomAD v4 |
| 3 | g.189808490C= | CA1428507691 | TP63 | c.543C= (p.Phe181=) c.261C= (p.Phe87=) c.42+18648C= (n.42+18648C=) n.367C= c.492C= (p.Phe164=) c.540C= (p.Phe180=) c.537C= (p.Phe179=) c.504C= (p.Phe168=) | |
| 3 | g.189808490C>G | CA355750784 | TP63 | c.543C>G (p.Phe181Leu) c.261C>G (p.Phe87Leu) c.42+18648C>G (n.42+18648C>G) n.367C>G c.492C>G (p.Phe164Leu) c.540C>G (p.Phe180Leu) c.537C>G (p.Phe179Leu) c.504C>G (p.Phe168Leu) | |
| 3 | g.189808490C>T | CA437636974 | TP63 | c.543C>T (p.Phe181=) c.261C>T (p.Phe87=) c.42+18648C>T (n.42+18648C>T) n.367C>T c.492C>T (p.Phe164=) c.540C>T (p.Phe180=) c.537C>T (p.Phe179=) c.504C>T (p.Phe168=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.189808491C>A | CA355750785 | TP63 | c.544C>A (p.Gln182Lys) c.262C>A (p.Gln88Lys) c.42+18649C>A (n.42+18649C>A) n.368C>A c.493C>A (p.Gln165Lys) c.541C>A (p.Gln181Lys) c.538C>A (p.Gln180Lys) c.505C>A (p.Gln169Lys) | |
| 3 | g.189808491C>G | CA355750786 | TP63 | c.544C>G (p.Gln182Glu) c.262C>G (p.Gln88Glu) c.42+18649C>G (n.42+18649C>G) n.368C>G c.493C>G (p.Gln165Glu) c.541C>G (p.Gln181Glu) c.538C>G (p.Gln180Glu) c.505C>G (p.Gln169Glu) | |
| 3 | g.189808491C>T | CA355750787 | TP63 | c.544C>T (p.Gln182Ter) c.262C>T (p.Gln88Ter) c.42+18649C>T (n.42+18649C>T) n.368C>T c.493C>T (p.Gln165Ter) c.541C>T (p.Gln181Ter) c.538C>T (p.Gln180Ter) c.505C>T (p.Gln169Ter) | |
| 3 | g.189808492A>C | CA355750788 | TP63 | c.545A>C (p.Gln182Pro) c.263A>C (p.Gln88Pro) c.42+18650A>C (n.42+18650A>C) n.369A>C c.494A>C (p.Gln165Pro) c.542A>C (p.Gln181Pro) c.539A>C (p.Gln180Pro) c.506A>C (p.Gln169Pro) | |
| 3 | g.189808492A>G | CA355750789 | TP63 | c.545A>G (p.Gln182Arg) c.263A>G (p.Gln88Arg) c.42+18650A>G (n.42+18650A>G) n.369A>G c.494A>G (p.Gln165Arg) c.542A>G (p.Gln181Arg) c.539A>G (p.Gln180Arg) c.506A>G (p.Gln169Arg) | |
| 3 | g.189808492A>T | CA355750790 | TP63 | c.545A>T (p.Gln182Leu) c.263A>T (p.Gln88Leu) c.42+18650A>T (n.42+18650A>T) n.369A>T c.494A>T (p.Gln165Leu) c.542A>T (p.Gln181Leu) c.539A>T (p.Gln180Leu) c.506A>T (p.Gln169Leu) | |
| 3 | g.189808493G>A | CA437636978 | TP63 | c.546G>A (p.Gln182=) c.264G>A (p.Gln88=) c.42+18651G>A (n.42+18651G>A) n.370G>A c.495G>A (p.Gln165=) c.543G>A (p.Gln181=) c.540G>A (p.Gln180=) c.507G>A (p.Gln169=) | |
| 3 | g.189808493G>C | CA355750791 | TP63 | c.546G>C (p.Gln182His) c.264G>C (p.Gln88His) c.42+18651G>C (n.42+18651G>C) n.370G>C c.495G>C (p.Gln165His) c.543G>C (p.Gln181His) c.540G>C (p.Gln180His) c.507G>C (p.Gln169His) | |
| 3 | g.189808493G>T | CA355750792 | TP63 | c.546G>T (p.Gln182His) c.264G>T (p.Gln88His) c.42+18651G>T (n.42+18651G>T) n.370G>T c.495G>T (p.Gln165His) c.543G>T (p.Gln181His) c.540G>T (p.Gln180His) c.507G>T (p.Gln169His) | |
| 3 | g.189808494C>A | CA355750794 | TP63 | c.547C>A (p.Gln183Lys) c.265C>A (p.Gln89Lys) c.42+18652C>A (n.42+18652C>A) n.371C>A c.496C>A (p.Gln166Lys) c.544C>A (p.Gln182Lys) c.541C>A (p.Gln181Lys) c.508C>A (p.Gln170Lys) | gnomAD v4 |
| 3 | g.189808494C= | CA1428507697 | TP63 | c.547C= (p.Gln183=) c.265C= (p.Gln89=) c.42+18652C= (n.42+18652C=) n.371C= c.496C= (p.Gln166=) c.544C= (p.Gln182=) c.541C= (p.Gln181=) c.508C= (p.Gln170=) | |
| 3 | g.189808494C>G | CA355750793 | TP63 | c.547C>G (p.Gln183Glu) c.265C>G (p.Gln89Glu) c.42+18652C>G (n.42+18652C>G) n.371C>G c.496C>G (p.Gln166Glu) c.544C>G (p.Gln182Glu) c.541C>G (p.Gln181Glu) c.508C>G (p.Gln170Glu) | |
| 3 | g.189808494C>T | CA16604497 | TP63 | c.547C>T (p.Gln183Ter) c.265C>T (p.Gln89Ter) c.42+18652C>T (n.42+18652C>T) n.371C>T c.496C>T (p.Gln166Ter) c.544C>T (p.Gln182Ter) c.541C>T (p.Gln181Ter) c.508C>T (p.Gln170Ter) | ClinVar dbSNP |
| 3 | g.189808495A>C | CA355750795 | TP63 | c.548A>C (p.Gln183Pro) c.266A>C (p.Gln89Pro) c.42+18653A>C (n.42+18653A>C) n.372A>C c.497A>C (p.Gln166Pro) c.545A>C (p.Gln182Pro) c.542A>C (p.Gln181Pro) c.509A>C (p.Gln170Pro) | |
| 3 | g.189808495A>G | CA355750796 | TP63 | c.548A>G (p.Gln183Arg) c.266A>G (p.Gln89Arg) c.42+18653A>G (n.42+18653A>G) n.372A>G c.497A>G (p.Gln166Arg) c.545A>G (p.Gln182Arg) c.542A>G (p.Gln181Arg) c.509A>G (p.Gln170Arg) | |
| 3 | g.189808495A>T | CA355750797 | TP63 | c.548A>T (p.Gln183Leu) c.266A>T (p.Gln89Leu) c.42+18653A>T (n.42+18653A>T) n.372A>T c.497A>T (p.Gln166Leu) c.545A>T (p.Gln182Leu) c.542A>T (p.Gln181Leu) c.509A>T (p.Gln170Leu) | |
| 3 | g.189808496G>A | CA437636980 | TP63 | c.549G>A (p.Gln183=) c.267G>A (p.Gln89=) c.42+18654G>A (n.42+18654G>A) n.373G>A c.498G>A (p.Gln166=) c.546G>A (p.Gln182=) c.543G>A (p.Gln181=) c.510G>A (p.Gln170=) | |
| 3 | g.189808496G>C | CA355750798 | TP63 | c.549G>C (p.Gln183His) c.267G>C (p.Gln89His) c.42+18654G>C (n.42+18654G>C) n.373G>C c.498G>C (p.Gln166His) c.546G>C (p.Gln182His) c.543G>C (p.Gln181His) c.510G>C (p.Gln170His) | |
| 3 | g.189808496G>T | CA355750799 | TP63 | c.549G>T (p.Gln183His) c.267G>T (p.Gln89His) c.42+18654G>T (n.42+18654G>T) n.373G>T c.498G>T (p.Gln166His) c.546G>T (p.Gln182His) c.543G>T (p.Gln181His) c.510G>T (p.Gln170His) | |
| 3 | g.189808497T>A | CA355750800 | TP63 | c.550T>A (p.Ser184Thr) c.268T>A (p.Ser90Thr) c.42+18655T>A (n.42+18655T>A) n.374T>A c.499T>A (p.Ser167Thr) c.547T>A (p.Ser183Thr) c.544T>A (p.Ser182Thr) c.511T>A (p.Ser171Thr) | |
| 3 | g.189808497T>C | CA355750801 | TP63 | c.550T>C (p.Ser184Pro) c.268T>C (p.Ser90Pro) c.42+18655T>C (n.42+18655T>C) n.374T>C c.499T>C (p.Ser167Pro) c.547T>C (p.Ser183Pro) c.544T>C (p.Ser182Pro) c.511T>C (p.Ser171Pro) | |
| 3 | g.189808497T>G | CA355750802 | TP63 | c.550T>G (p.Ser184Ala) c.268T>G (p.Ser90Ala) c.42+18655T>G (n.42+18655T>G) n.374T>G c.499T>G (p.Ser167Ala) c.547T>G (p.Ser183Ala) c.544T>G (p.Ser182Ala) c.511T>G (p.Ser171Ala) | |
| 3 | g.189808498C>A | CA355750803 | TP63 | c.551C>A (p.Ser184Ter) c.269C>A (p.Ser90Ter) c.42+18656C>A (n.42+18656C>A) n.375C>A c.500C>A (p.Ser167Ter) c.548C>A (p.Ser183Ter) c.545C>A (p.Ser182Ter) c.512C>A (p.Ser171Ter) | gnomAD v4 |
| 3 | g.189808498C>G | CA355750804 | TP63 | c.551C>G (p.Ser184Trp) c.269C>G (p.Ser90Trp) c.42+18656C>G (n.42+18656C>G) n.375C>G c.500C>G (p.Ser167Trp) c.548C>G (p.Ser183Trp) c.545C>G (p.Ser182Trp) c.512C>G (p.Ser171Trp) | COSMIC COSMIC |
| 3 | g.189808498C>T | CA355750805 | TP63 | c.551C>T (p.Ser184Leu) c.269C>T (p.Ser90Leu) c.42+18656C>T (n.42+18656C>T) n.375C>T c.500C>T (p.Ser167Leu) c.548C>T (p.Ser183Leu) c.545C>T (p.Ser182Leu) c.512C>T (p.Ser171Leu) | gnomAD v4 COSMIC |
| 3 | g.189808499G>A | CA2752160 | TP63 | c.552G>A (p.Ser184=) c.270G>A (p.Ser90=) c.42+18657G>A (n.42+18657G>A) n.376G>A c.501G>A (p.Ser167=) c.549G>A (p.Ser183=) c.546G>A (p.Ser182=) c.513G>A (p.Ser171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.189808499G>C | CA437636984 | TP63 | c.552G>C (p.Ser184=) c.270G>C (p.Ser90=) c.42+18657G>C (n.42+18657G>C) n.376G>C c.501G>C (p.Ser167=) c.549G>C (p.Ser183=) c.546G>C (p.Ser182=) c.513G>C (p.Ser171=) | |
| 3 | g.189808499G= | CA1428507701 | TP63 | c.552G= (p.Ser184=) c.270G= (p.Ser90=) c.42+18657G= (n.42+18657G=) n.376G= c.501G= (p.Ser167=) c.549G= (p.Ser183=) c.546G= (p.Ser182=) c.513G= (p.Ser171=) | |
| 3 | g.189808499G>T | CA437636985 | TP63 | c.552G>T (p.Ser184=) c.270G>T (p.Ser90=) c.42+18657G>T (n.42+18657G>T) n.376G>T c.501G>T (p.Ser167=) c.549G>T (p.Ser183=) c.546G>T (p.Ser182=) c.513G>T (p.Ser171=) | ClinVar dbSNP |
| 3 | g.189808500A>C | CA355750808 | TP63 | c.553A>C (p.Ser185Arg) c.271A>C (p.Ser91Arg) c.42+18658A>C (n.42+18658A>C) n.377A>C c.502A>C (p.Ser168Arg) c.550A>C (p.Ser184Arg) c.547A>C (p.Ser183Arg) c.514A>C (p.Ser172Arg) | |
| 3 | g.189808500A>G | CA355750807 | TP63 | c.553A>G (p.Ser185Gly) c.271A>G (p.Ser91Gly) c.42+18658A>G (n.42+18658A>G) n.377A>G c.502A>G (p.Ser168Gly) c.550A>G (p.Ser184Gly) c.547A>G (p.Ser183Gly) c.514A>G (p.Ser172Gly) | |
| 3 | g.189808500A>T | CA355750806 | TP63 | c.553A>T (p.Ser185Cys) c.271A>T (p.Ser91Cys) c.42+18658A>T (n.42+18658A>T) n.377A>T c.502A>T (p.Ser168Cys) c.550A>T (p.Ser184Cys) c.547A>T (p.Ser183Cys) c.514A>T (p.Ser172Cys) | |
| 3 | g.189808501G>A | CA355750809 | TP63 | c.554G>A (p.Ser185Asn) c.272G>A (p.Ser91Asn) c.42+18659G>A (n.42+18659G>A) n.378G>A c.503G>A (p.Ser168Asn) c.551G>A (p.Ser184Asn) c.548G>A (p.Ser183Asn) c.515G>A (p.Ser172Asn) | |
| 3 | g.189808501G>C | CA355750811 | TP63 | c.554G>C (p.Ser185Thr) c.272G>C (p.Ser91Thr) c.42+18659G>C (n.42+18659G>C) n.378G>C c.503G>C (p.Ser168Thr) c.551G>C (p.Ser184Thr) c.548G>C (p.Ser183Thr) c.515G>C (p.Ser172Thr) | |
| 3 | g.189808501G>T | CA355750810 | TP63 | c.554G>T (p.Ser185Ile) c.272G>T (p.Ser91Ile) c.42+18659G>T (n.42+18659G>T) n.378G>T c.503G>T (p.Ser168Ile) c.551G>T (p.Ser184Ile) c.548G>T (p.Ser183Ile) c.515G>T (p.Ser172Ile) | |
| 3 | g.189808502C>A | CA355750812 | TP63 | c.555C>A (p.Ser185Arg) c.273C>A (p.Ser91Arg) c.42+18660C>A (n.42+18660C>A) n.379C>A c.504C>A (p.Ser168Arg) c.552C>A (p.Ser184Arg) c.549C>A (p.Ser183Arg) c.516C>A (p.Ser172Arg) | |
| 3 | g.189808502C>G | CA355750813 | TP63 | c.555C>G (p.Ser185Arg) c.273C>G (p.Ser91Arg) c.42+18660C>G (n.42+18660C>G) n.379C>G c.504C>G (p.Ser168Arg) c.552C>G (p.Ser184Arg) c.549C>G (p.Ser183Arg) c.516C>G (p.Ser172Arg) | |
| 3 | g.189808502C>T | CA437636986 | TP63 | c.555C>T (p.Ser185=) c.273C>T (p.Ser91=) c.42+18660C>T (n.42+18660C>T) n.379C>T c.504C>T (p.Ser168=) c.552C>T (p.Ser184=) c.549C>T (p.Ser183=) c.516C>T (p.Ser172=) | gnomAD v4 |
| 3 | g.189808503A>C | CA355750814 | TP63 | c.556A>C (p.Thr186Pro) c.274A>C (p.Thr92Pro) c.42+18661A>C (n.42+18661A>C) n.380A>C c.505A>C (p.Thr169Pro) c.553A>C (p.Thr185Pro) c.550A>C (p.Thr184Pro) c.517A>C (p.Thr173Pro) | |
| 3 | g.189808503A>G | CA355750816 | TP63 | c.556A>G (p.Thr186Ala) c.274A>G (p.Thr92Ala) c.42+18661A>G (n.42+18661A>G) n.380A>G c.505A>G (p.Thr169Ala) c.553A>G (p.Thr185Ala) c.550A>G (p.Thr184Ala) c.517A>G (p.Thr173Ala) | |
| 3 | g.189808503A>T | CA355750815 | TP63 | c.556A>T (p.Thr186Ser) c.274A>T (p.Thr92Ser) c.42+18661A>T (n.42+18661A>T) n.380A>T c.505A>T (p.Thr169Ser) c.553A>T (p.Thr185Ser) c.550A>T (p.Thr184Ser) c.517A>T (p.Thr173Ser) | |
| 3 | g.189808504C>A | CA355750817 | TP63 | c.557C>A (p.Thr186Asn) c.275C>A (p.Thr92Asn) c.42+18662C>A (n.42+18662C>A) n.381C>A c.506C>A (p.Thr169Asn) c.554C>A (p.Thr185Asn) c.551C>A (p.Thr184Asn) c.518C>A (p.Thr173Asn) | |
| 3 | g.189808504C= | CA1428507706 | TP63 | c.557C= (p.Thr186=) c.275C= (p.Thr92=) c.42+18662C= (n.42+18662C=) n.381C= c.506C= (p.Thr169=) c.554C= (p.Thr185=) c.551C= (p.Thr184=) c.518C= (p.Thr173=) | |
| 3 | g.189808504C>G | CA355750818 | TP63 | c.557C>G (p.Thr186Ser) c.275C>G (p.Thr92Ser) c.42+18662C>G (n.42+18662C>G) n.381C>G c.506C>G (p.Thr169Ser) c.554C>G (p.Thr185Ser) c.551C>G (p.Thr184Ser) c.518C>G (p.Thr173Ser) | |
| 3 | g.189808504C>T | CA355750819 | TP63 | c.557C>T (p.Thr186Ile) c.275C>T (p.Thr92Ile) c.42+18662C>T (n.42+18662C>T) n.381C>T c.506C>T (p.Thr169Ile) c.554C>T (p.Thr185Ile) c.551C>T (p.Thr184Ile) c.518C>T (p.Thr173Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189808505C>A | CA437636989 | TP63 | c.558C>A (p.Thr186=) c.276C>A (p.Thr92=) c.42+18663C>A (n.42+18663C>A) n.382C>A c.507C>A (p.Thr169=) c.555C>A (p.Thr185=) c.552C>A (p.Thr184=) c.519C>A (p.Thr173=) | |
| 3 | g.189808505C= | CA1428507714 | TP63 | c.558C= (p.Thr186=) c.276C= (p.Thr92=) c.42+18663C= (n.42+18663C=) n.382C= c.507C= (p.Thr169=) c.555C= (p.Thr185=) c.552C= (p.Thr184=) c.519C= (p.Thr173=) | |
| 3 | g.189808505C>G | CA437636988 | TP63 | c.558C>G (p.Thr186=) c.276C>G (p.Thr92=) c.42+18663C>G (n.42+18663C>G) n.382C>G c.507C>G (p.Thr169=) c.555C>G (p.Thr185=) c.552C>G (p.Thr184=) c.519C>G (p.Thr173=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189808505C>T | CA89711710 | TP63 | c.558C>T (p.Thr186=) c.276C>T (p.Thr92=) c.42+18663C>T (n.42+18663C>T) n.382C>T c.507C>T (p.Thr169=) c.555C>T (p.Thr185=) c.552C>T (p.Thr184=) c.519C>T (p.Thr173=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189808506G>A | CA355750820 | TP63 | c.559G>A (p.Ala187Thr) c.277G>A (p.Ala93Thr) c.42+18664G>A (n.42+18664G>A) n.383G>A c.508G>A (p.Ala170Thr) c.556G>A (p.Ala186Thr) c.553G>A (p.Ala185Thr) c.520G>A (p.Ala174Thr) | gnomAD v4 |
| 3 | g.189808506G>C | CA355750821 | TP63 | c.559G>C (p.Ala187Pro) c.277G>C (p.Ala93Pro) c.42+18664G>C (n.42+18664G>C) n.383G>C c.508G>C (p.Ala170Pro) c.556G>C (p.Ala186Pro) c.553G>C (p.Ala185Pro) c.520G>C (p.Ala174Pro) | |
| 3 | g.189808506G>T | CA355750822 | TP63 | c.559G>T (p.Ala187Ser) c.277G>T (p.Ala93Ser) c.42+18664G>T (n.42+18664G>T) n.383G>T c.508G>T (p.Ala170Ser) c.556G>T (p.Ala186Ser) c.553G>T (p.Ala185Ser) c.520G>T (p.Ala174Ser) | |
| 3 | g.189808510_189808518del | CA2573136832 | TP63 | c.563_571del (p.Lys188_Ala190del) c.281_289del (p.Lys94_Ala96del) c.42+18668_42+18676del (n.42+18668_42+18676del) n.387_395del c.512_520del (p.Lys171_Ala173del) c.560_568del (p.Lys187_Ala189del) c.557_565del (p.Lys186_Ala188del) c.524_532del (p.Lys175_Ala177del) | ClinVar dbSNP |
| 3 | g.189808507C>A | CA355750823 | TP63 | c.560C>A (p.Ala187Asp) c.278C>A (p.Ala93Asp) c.42+18665C>A (n.42+18665C>A) n.384C>A c.509C>A (p.Ala170Asp) c.557C>A (p.Ala186Asp) c.554C>A (p.Ala185Asp) c.521C>A (p.Ala174Asp) | |
| 3 | g.189808507C>G | CA355750824 | TP63 | c.560C>G (p.Ala187Gly) c.278C>G (p.Ala93Gly) c.42+18665C>G (n.42+18665C>G) n.384C>G c.509C>G (p.Ala170Gly) c.557C>G (p.Ala186Gly) c.554C>G (p.Ala185Gly) c.521C>G (p.Ala174Gly) | |
| 3 | g.189808507C>T | CA355750825 | TP63 | c.560C>T (p.Ala187Val) c.278C>T (p.Ala93Val) c.42+18665C>T (n.42+18665C>T) n.384C>T c.509C>T (p.Ala170Val) c.557C>T (p.Ala186Val) c.554C>T (p.Ala185Val) c.521C>T (p.Ala174Val) | |
| 3 | g.189808508C>A | CA437636994 | TP63 | c.561C>A (p.Ala187=) c.279C>A (p.Ala93=) c.42+18666C>A (n.42+18666C>A) n.385C>A c.510C>A (p.Ala170=) c.558C>A (p.Ala186=) c.555C>A (p.Ala185=) c.522C>A (p.Ala174=) | |
| 3 | g.189808508C>G | CA437636992 | TP63 | c.561C>G (p.Ala187=) c.279C>G (p.Ala93=) c.42+18666C>G (n.42+18666C>G) n.385C>G c.510C>G (p.Ala170=) c.558C>G (p.Ala186=) c.555C>G (p.Ala185=) c.522C>G (p.Ala174=) | ClinVar |
| 3 | g.189808508C>T | CA437636993 | TP63 | c.561C>T (p.Ala187=) c.279C>T (p.Ala93=) c.42+18666C>T (n.42+18666C>T) n.385C>T c.510C>T (p.Ala170=) c.558C>T (p.Ala186=) c.555C>T (p.Ala185=) c.522C>T (p.Ala174=) | |
| 3 | g.189808509A>C | CA355750826 | TP63 | c.562A>C (p.Lys188Gln) c.280A>C (p.Lys94Gln) c.42+18667A>C (n.42+18667A>C) n.386A>C c.511A>C (p.Lys171Gln) c.559A>C (p.Lys187Gln) c.556A>C (p.Lys186Gln) c.523A>C (p.Lys175Gln) | |
| 3 | g.189808509A>G | CA355750827 | TP63 | c.562A>G (p.Lys188Glu) c.280A>G (p.Lys94Glu) c.42+18667A>G (n.42+18667A>G) n.386A>G c.511A>G (p.Lys171Glu) c.559A>G (p.Lys187Glu) c.556A>G (p.Lys186Glu) c.523A>G (p.Lys175Glu) | |
| 3 | g.189808509A>T | CA355750828 | TP63 | c.562A>T (p.Lys188Ter) c.280A>T (p.Lys94Ter) c.42+18667A>T (n.42+18667A>T) n.386A>T c.511A>T (p.Lys171Ter) c.559A>T (p.Lys187Ter) c.556A>T (p.Lys186Ter) c.523A>T (p.Lys175Ter) | |
| 3 | g.189808510A>C | CA355750829 | TP63 | c.563A>C (p.Lys188Thr) c.281A>C (p.Lys94Thr) c.42+18668A>C (n.42+18668A>C) n.387A>C c.512A>C (p.Lys171Thr) c.560A>C (p.Lys187Thr) c.557A>C (p.Lys186Thr) c.524A>C (p.Lys175Thr) | COSMIC COSMIC COSMIC |
| 3 | g.189808510A>G | CA355750831 | TP63 | c.563A>G (p.Lys188Arg) c.281A>G (p.Lys94Arg) c.42+18668A>G (n.42+18668A>G) n.387A>G c.512A>G (p.Lys171Arg) c.560A>G (p.Lys187Arg) c.557A>G (p.Lys186Arg) c.524A>G (p.Lys175Arg) | |
| 3 | g.189808510A>T | CA355750830 | TP63 | c.563A>T (p.Lys188Met) c.281A>T (p.Lys94Met) c.42+18668A>T (n.42+18668A>T) n.387A>T c.512A>T (p.Lys171Met) c.560A>T (p.Lys187Met) c.557A>T (p.Lys186Met) c.524A>T (p.Lys175Met) | COSMIC COSMIC COSMIC |
| 3 | g.189808511G>A | CA437636995 | TP63 | c.564G>A (p.Lys188=) c.282G>A (p.Lys94=) c.42+18669G>A (n.42+18669G>A) n.388G>A c.513G>A (p.Lys171=) c.561G>A (p.Lys187=) c.558G>A (p.Lys186=) c.525G>A (p.Lys175=) | dbSNP gnomAD v4 |
| 3 | g.189808511G>C | CA355750832 | TP63 | c.564G>C (p.Lys188Asn) c.282G>C (p.Lys94Asn) c.42+18669G>C (n.42+18669G>C) n.388G>C c.513G>C (p.Lys171Asn) c.561G>C (p.Lys187Asn) c.558G>C (p.Lys186Asn) c.525G>C (p.Lys175Asn) | |
| 3 | g.189808511G= | CA1428507716 | TP63 | c.564G= (p.Lys188=) c.282G= (p.Lys94=) c.42+18669G= (n.42+18669G=) n.388G= c.513G= (p.Lys171=) c.561G= (p.Lys187=) c.558G= (p.Lys186=) c.525G= (p.Lys175=) | |
| 3 | g.189808511G>T | CA355750833 | TP63 | c.564G>T (p.Lys188Asn) c.282G>T (p.Lys94Asn) c.42+18669G>T (n.42+18669G>T) n.388G>T c.513G>T (p.Lys171Asn) c.561G>T (p.Lys187Asn) c.558G>T (p.Lys186Asn) c.525G>T (p.Lys175Asn) | |
| 3 | g.189808512T>A | CA355750834 | TP63 | c.565T>A (p.Ser189Thr) c.283T>A (p.Ser95Thr) c.42+18670T>A (n.42+18670T>A) n.389T>A c.514T>A (p.Ser172Thr) c.562T>A (p.Ser188Thr) c.559T>A (p.Ser187Thr) c.526T>A (p.Ser176Thr) | |
| 3 | g.189808512T>C | CA355750835 | TP63 | c.565T>C (p.Ser189Pro) c.283T>C (p.Ser95Pro) c.42+18670T>C (n.42+18670T>C) n.389T>C c.514T>C (p.Ser172Pro) c.562T>C (p.Ser188Pro) c.559T>C (p.Ser187Pro) c.526T>C (p.Ser176Pro) | |
| 3 | g.189808512T>G | CA355750836 | TP63 | c.565T>G (p.Ser189Ala) c.283T>G (p.Ser95Ala) c.42+18670T>G (n.42+18670T>G) n.389T>G c.514T>G (p.Ser172Ala) c.562T>G (p.Ser188Ala) c.559T>G (p.Ser187Ala) c.526T>G (p.Ser176Ala) | |
| 3 | g.189808513C>A | CA355750837 | TP63 | c.566C>A (p.Ser189Ter) c.284C>A (p.Ser95Ter) c.42+18671C>A (n.42+18671C>A) n.390C>A c.515C>A (p.Ser172Ter) c.563C>A (p.Ser188Ter) c.560C>A (p.Ser187Ter) c.527C>A (p.Ser176Ter) | |
| 3 | g.189808513C= | CA1428507718 | TP63 | c.566C= (p.Ser189=) c.284C= (p.Ser95=) c.42+18671C= (n.42+18671C=) n.390C= c.515C= (p.Ser172=) c.563C= (p.Ser188=) c.560C= (p.Ser187=) c.527C= (p.Ser176=) | |
| 3 | g.189808513C>G | CA355750838 | TP63 | c.566C>G (p.Ser189Trp) c.284C>G (p.Ser95Trp) c.42+18671C>G (n.42+18671C>G) n.390C>G c.515C>G (p.Ser172Trp) c.563C>G (p.Ser188Trp) c.560C>G (p.Ser187Trp) c.527C>G (p.Ser176Trp) | |
| 3 | g.189808513C>T | CA89711711 | TP63 | c.566C>T (p.Ser189Leu) c.284C>T (p.Ser95Leu) c.42+18671C>T (n.42+18671C>T) n.390C>T c.515C>T (p.Ser172Leu) c.563C>T (p.Ser188Leu) c.560C>T (p.Ser187Leu) c.527C>T (p.Ser176Leu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.189808514G>A | CA2752161 | TP63 | c.567G>A (p.Ser189=) c.285G>A (p.Ser95=) c.42+18672G>A (n.42+18672G>A) n.391G>A c.516G>A (p.Ser172=) c.564G>A (p.Ser188=) c.561G>A (p.Ser187=) c.528G>A (p.Ser176=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189808514G>C | CA437636997 | TP63 | c.567G>C (p.Ser189=) c.285G>C (p.Ser95=) c.42+18672G>C (n.42+18672G>C) n.391G>C c.516G>C (p.Ser172=) c.564G>C (p.Ser188=) c.561G>C (p.Ser187=) c.528G>C (p.Ser176=) | |
| 3 | g.189808514G= | CA1428507724 | TP63 | c.567G= (p.Ser189=) c.285G= (p.Ser95=) c.42+18672G= (n.42+18672G=) n.391G= c.516G= (p.Ser172=) c.564G= (p.Ser188=) c.561G= (p.Ser187=) c.528G= (p.Ser176=) | |
| 3 | g.189808514G>T | CA437636998 | TP63 | c.567G>T (p.Ser189=) c.285G>T (p.Ser95=) c.42+18672G>T (n.42+18672G>T) n.391G>T c.516G>T (p.Ser172=) c.564G>T (p.Ser188=) c.561G>T (p.Ser187=) c.528G>T (p.Ser176=) | |
| 3 | g.189808516_189808523del | CA2586965935 | TP63 | c.569_576del (p.Ala190AspfsTer5) c.287_294del (p.Ala96AspfsTer5) c.287_294del (p.Ala96AspfsTer?) c.42+18674_42+18681del (n.42+18674_42+18681del) n.393_400del c.518_525del (p.Ala173AspfsTer5) c.566_573del (p.Ala189AspfsTer5) c.563_570del (p.Ala188AspfsTer5) c.530_537del (p.Ala177AspfsTer5) | |
| 3 | g.189808515G>A | CA355750841 | TP63 | c.568G>A (p.Ala190Thr) c.286G>A (p.Ala96Thr) c.42+18673G>A (n.42+18673G>A) n.392G>A c.517G>A (p.Ala173Thr) c.565G>A (p.Ala189Thr) c.562G>A (p.Ala188Thr) c.529G>A (p.Ala177Thr) | |
| 3 | g.189808515G>C | CA355750840 | TP63 | c.568G>C (p.Ala190Pro) c.286G>C (p.Ala96Pro) c.42+18673G>C (n.42+18673G>C) n.392G>C c.517G>C (p.Ala173Pro) c.565G>C (p.Ala189Pro) c.562G>C (p.Ala188Pro) c.529G>C (p.Ala177Pro) | COSMIC |
| 3 | g.189808515G>T | CA355750839 | TP63 | c.568G>T (p.Ala190Ser) c.286G>T (p.Ala96Ser) c.42+18673G>T (n.42+18673G>T) n.392G>T c.517G>T (p.Ala173Ser) c.565G>T (p.Ala189Ser) c.562G>T (p.Ala188Ser) c.529G>T (p.Ala177Ser) | |
| 3 | g.189808516C>A | CA355750842 | TP63 | c.569C>A (p.Ala190Asp) c.287C>A (p.Ala96Asp) c.42+18674C>A (n.42+18674C>A) n.393C>A c.518C>A (p.Ala173Asp) c.566C>A (p.Ala189Asp) c.563C>A (p.Ala188Asp) c.530C>A (p.Ala177Asp) | |
| 3 | g.189808516C>G | CA355750843 | TP63 | c.569C>G (p.Ala190Gly) c.287C>G (p.Ala96Gly) c.42+18674C>G (n.42+18674C>G) n.393C>G c.518C>G (p.Ala173Gly) c.566C>G (p.Ala189Gly) c.563C>G (p.Ala188Gly) c.530C>G (p.Ala177Gly) | |
| 3 | g.189808516C>T | CA355750844 | TP63 | c.569C>T (p.Ala190Val) c.287C>T (p.Ala96Val) c.42+18674C>T (n.42+18674C>T) n.393C>T c.518C>T (p.Ala173Val) c.566C>T (p.Ala189Val) c.563C>T (p.Ala188Val) c.530C>T (p.Ala177Val) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.189808517C>A | CA437413089 | TP63 | c.570C>A (p.Ala190=) c.288C>A (p.Ala96=) c.42+18675C>A (n.42+18675C>A) n.394C>A c.519C>A (p.Ala173=) c.567C>A (p.Ala189=) c.564C>A (p.Ala188=) c.531C>A (p.Ala177=) | gnomAD v4 |
| 3 | g.189808517C>G | CA437413090 | TP63 | c.570C>G (p.Ala190=) c.288C>G (p.Ala96=) c.42+18675C>G (n.42+18675C>G) n.394C>G c.519C>G (p.Ala173=) c.567C>G (p.Ala189=) c.564C>G (p.Ala188=) c.531C>G (p.Ala177=) | |
| 3 | g.189808517C>T | CA437413091 | TP63 | c.570C>T (p.Ala190=) c.288C>T (p.Ala96=) c.42+18675C>T (n.42+18675C>T) n.394C>T c.519C>T (p.Ala173=) c.567C>T (p.Ala189=) c.564C>T (p.Ala188=) c.531C>T (p.Ala177=) | |
| 3 | g.189808518A>C | CA355750845 | TP63 | c.571A>C (p.Thr191Pro) c.289A>C (p.Thr97Pro) c.42+18676A>C (n.42+18676A>C) n.395A>C c.520A>C (p.Thr174Pro) c.568A>C (p.Thr190Pro) c.565A>C (p.Thr189Pro) c.532A>C (p.Thr178Pro) | |
| 3 | g.189808518A>G | CA355750846 | TP63 | c.571A>G (p.Thr191Ala) c.289A>G (p.Thr97Ala) c.42+18676A>G (n.42+18676A>G) n.395A>G c.520A>G (p.Thr174Ala) c.568A>G (p.Thr190Ala) c.565A>G (p.Thr189Ala) c.532A>G (p.Thr178Ala) | |
| 3 | g.189808518A>T | CA355750847 | TP63 | c.571A>T (p.Thr191Ser) c.289A>T (p.Thr97Ser) c.42+18676A>T (n.42+18676A>T) n.395A>T c.520A>T (p.Thr174Ser) c.568A>T (p.Thr190Ser) c.565A>T (p.Thr189Ser) c.532A>T (p.Thr178Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.189808519C>A | CA355750848 | TP63 | c.572C>A (p.Thr191Asn) c.290C>A (p.Thr97Asn) c.42+18677C>A (n.42+18677C>A) n.396C>A c.521C>A (p.Thr174Asn) c.569C>A (p.Thr190Asn) c.566C>A (p.Thr189Asn) c.533C>A (p.Thr178Asn) | |
| 3 | g.189808519C>G | CA355750849 | TP63 | c.572C>G (p.Thr191Ser) c.290C>G (p.Thr97Ser) c.42+18677C>G (n.42+18677C>G) n.396C>G c.521C>G (p.Thr174Ser) c.569C>G (p.Thr190Ser) c.566C>G (p.Thr189Ser) c.533C>G (p.Thr178Ser) | |
| 3 | g.189808519C>T | CA355750850 | TP63 | c.572C>T (p.Thr191Ile) c.290C>T (p.Thr97Ile) c.42+18677C>T (n.42+18677C>T) n.396C>T c.521C>T (p.Thr174Ile) c.569C>T (p.Thr190Ile) c.566C>T (p.Thr189Ile) c.533C>T (p.Thr178Ile) | |
| 3 | g.189808520C>A | CA437413093 | TP63 | c.573C>A (p.Thr191=) c.291C>A (p.Thr97=) c.42+18678C>A (n.42+18678C>A) n.397C>A c.522C>A (p.Thr174=) c.570C>A (p.Thr190=) c.567C>A (p.Thr189=) c.534C>A (p.Thr178=) | |
| 3 | g.189808520C= | CA1428507728 | TP63 | c.573C= (p.Thr191=) c.291C= (p.Thr97=) c.42+18678C= (n.42+18678C=) n.397C= c.522C= (p.Thr174=) c.570C= (p.Thr190=) c.567C= (p.Thr189=) c.534C= (p.Thr178=) | |
| 3 | g.189808520C>G | CA437413094 | TP63 | c.573C>G (p.Thr191=) c.291C>G (p.Thr97=) c.42+18678C>G (n.42+18678C>G) n.397C>G c.522C>G (p.Thr174=) c.570C>G (p.Thr190=) c.567C>G (p.Thr189=) c.534C>G (p.Thr178=) | |
| 3 | g.189808520C>T | CA437413095 | TP63 | c.573C>T (p.Thr191=) c.291C>T (p.Thr97=) c.42+18678C>T (n.42+18678C>T) n.397C>T c.522C>T (p.Thr174=) c.570C>T (p.Thr190=) c.567C>T (p.Thr189=) c.534C>T (p.Thr178=) | dbSNP gnomAD v4 |
| 3 | g.189808521T>A | CA355750851 | TP63 | c.574T>A (p.Trp192Arg) c.292T>A (p.Trp98Arg) c.42+18679T>A (n.42+18679T>A) n.398T>A c.523T>A (p.Trp175Arg) c.571T>A (p.Trp191Arg) c.568T>A (p.Trp190Arg) c.535T>A (p.Trp179Arg) | |
| 3 | g.189808521T>C | CA355750852 | TP63 | c.574T>C (p.Trp192Arg) c.292T>C (p.Trp98Arg) c.42+18679T>C (n.42+18679T>C) n.398T>C c.523T>C (p.Trp175Arg) c.571T>C (p.Trp191Arg) c.568T>C (p.Trp190Arg) c.535T>C (p.Trp179Arg) | |
| 3 | g.189808521T>G | CA355750853 | TP63 | c.574T>G (p.Trp192Gly) c.292T>G (p.Trp98Gly) c.42+18679T>G (n.42+18679T>G) n.398T>G c.523T>G (p.Trp175Gly) c.571T>G (p.Trp191Gly) c.568T>G (p.Trp190Gly) c.535T>G (p.Trp179Gly) | |
| 3 | g.189808521T= | CA1428507730 | TP63 | c.574T= (p.Trp192=) c.292T= (p.Trp98=) c.42+18679T= (n.42+18679T=) n.398T= c.523T= (p.Trp175=) c.571T= (p.Trp191=) c.568T= (p.Trp190=) c.535T= (p.Trp179=) | |
| 3 | g.189808521_189808522insTCGATGCTCTCTCTCCATCACCC | CA1428507732 | TP63 | c.574_575insTCGATGCTCTCTCTCCATCACCC (p.Trp192PhefsTer15) c.292_293insTCGATGCTCTCTCTCCATCACCC (p.Trp98PhefsTer15) c.292_293insTCGATGCTCTCTCTCCATCACCC (p.Trp98PhefsTer23) c.42+18679_42+18680insTCGATGCTCTCTCTCCATCACCC (n.42+18679_42+18680insTCGATGCTCTCTCTCCATCACCC) n.398_399insTCGATGCTCTCTCTCCATCACCC c.523_524insTCGATGCTCTCTCTCCATCACCC (p.Trp175PhefsTer15) c.571_572insTCGATGCTCTCTCTCCATCACCC (p.Trp191PhefsTer15) c.568_569insTCGATGCTCTCTCTCCATCACCC (p.Trp190PhefsTer15) c.535_536insTCGATGCTCTCTCTCCATCACCC (p.Trp179PhefsTer15) | dbSNP |
| 3 | g.189808522G>A | CA355750856 | TP63 | c.575G>A (p.Trp192Ter) c.293G>A (p.Trp98Ter) c.42+18680G>A (n.42+18680G>A) n.399G>A c.524G>A (p.Trp175Ter) c.572G>A (p.Trp191Ter) c.569G>A (p.Trp190Ter) c.536G>A (p.Trp179Ter) | |
| 3 | g.189808522G>C | CA355750855 | TP63 | c.575G>C (p.Trp192Ser) c.293G>C (p.Trp98Ser) c.42+18680G>C (n.42+18680G>C) n.399G>C c.524G>C (p.Trp175Ser) c.572G>C (p.Trp191Ser) c.569G>C (p.Trp190Ser) c.536G>C (p.Trp179Ser) | |
| 3 | g.189808522G>T | CA355750854 | TP63 | c.575G>T (p.Trp192Leu) c.293G>T (p.Trp98Leu) c.42+18680G>T (n.42+18680G>T) n.399G>T c.524G>T (p.Trp175Leu) c.572G>T (p.Trp191Leu) c.569G>T (p.Trp190Leu) c.536G>T (p.Trp179Leu) | |
| 3 | g.189808523G>A | CA355750857 | TP63 | c.576G>A (p.Trp192Ter) c.294G>A (p.Trp98Ter) c.42+18681G>A (n.42+18681G>A) n.400G>A c.525G>A (p.Trp175Ter) c.573G>A (p.Trp191Ter) c.570G>A (p.Trp190Ter) c.537G>A (p.Trp179Ter) | |
| 3 | g.189808523G>C | CA355750858 | TP63 | c.576G>C (p.Trp192Cys) c.294G>C (p.Trp98Cys) c.42+18681G>C (n.42+18681G>C) n.400G>C c.525G>C (p.Trp175Cys) c.573G>C (p.Trp191Cys) c.570G>C (p.Trp190Cys) c.537G>C (p.Trp179Cys) | |
| 3 | g.189808523G>T | CA355750859 | TP63 | c.576G>T (p.Trp192Cys) c.294G>T (p.Trp98Cys) c.42+18681G>T (n.42+18681G>T) n.400G>T c.525G>T (p.Trp175Cys) c.573G>T (p.Trp191Cys) c.570G>T (p.Trp190Cys) c.537G>T (p.Trp179Cys) | |
| 3 | g.189808524A>C | CA355750860 | TP63 | c.577A>C (p.Thr193Pro) c.295A>C (p.Thr99Pro) c.42+18682A>C (n.42+18682A>C) n.401A>C c.526A>C (p.Thr176Pro) c.574A>C (p.Thr192Pro) c.571A>C (p.Thr191Pro) c.538A>C (p.Thr180Pro) | |
| 3 | g.189808524A>G | CA355750861 | TP63 | c.577A>G (p.Thr193Ala) c.295A>G (p.Thr99Ala) c.42+18682A>G (n.42+18682A>G) n.401A>G c.526A>G (p.Thr176Ala) c.574A>G (p.Thr192Ala) c.571A>G (p.Thr191Ala) c.538A>G (p.Thr180Ala) | |
| 3 | g.189808524A>T | CA355750862 | TP63 | c.577A>T (p.Thr193Ser) c.295A>T (p.Thr99Ser) c.42+18682A>T (n.42+18682A>T) n.401A>T c.526A>T (p.Thr176Ser) c.574A>T (p.Thr192Ser) c.571A>T (p.Thr191Ser) c.538A>T (p.Thr180Ser) | |
| 3 | g.189808525C>A | CA355750863 | TP63 | c.578C>A (p.Thr193Lys) c.296C>A (p.Thr99Lys) c.42+18683C>A (n.42+18683C>A) n.402C>A c.527C>A (p.Thr176Lys) c.575C>A (p.Thr192Lys) c.572C>A (p.Thr191Lys) c.539C>A (p.Thr180Lys) | |
| 3 | g.189808525C= | CA1428507736 | TP63 | c.578C= (p.Thr193=) c.296C= (p.Thr99=) c.42+18683C= (n.42+18683C=) n.402C= c.527C= (p.Thr176=) c.575C= (p.Thr192=) c.572C= (p.Thr191=) c.539C= (p.Thr180=) | |
| 3 | g.189808525C>G | CA355750864 | TP63 | c.578C>G (p.Thr193Arg) c.296C>G (p.Thr99Arg) c.42+18683C>G (n.42+18683C>G) n.402C>G c.527C>G (p.Thr176Arg) c.575C>G (p.Thr192Arg) c.572C>G (p.Thr191Arg) c.539C>G (p.Thr180Arg) | ClinVar dbSNP |
| 3 | g.189808525C>T | CA355750865 | TP63 | c.578C>T (p.Thr193Met) c.296C>T (p.Thr99Met) c.42+18683C>T (n.42+18683C>T) n.402C>T c.527C>T (p.Thr176Met) c.575C>T (p.Thr192Met) c.572C>T (p.Thr191Met) c.539C>T (p.Thr180Met) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.189808526G>A | CA437413097 | TP63 | c.579G>A (p.Thr193=) c.297G>A (p.Thr99=) c.42+18684G>A (n.42+18684G>A) n.403G>A c.528G>A (p.Thr176=) c.576G>A (p.Thr192=) c.573G>A (p.Thr191=) c.540G>A (p.Thr180=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.189808526G>C | CA437413099 | TP63 | c.579G>C (p.Thr193=) c.297G>C (p.Thr99=) c.42+18684G>C (n.42+18684G>C) n.403G>C c.528G>C (p.Thr176=) c.576G>C (p.Thr192=) c.573G>C (p.Thr191=) c.540G>C (p.Thr180=) | |
| 3 | g.189808526G= | CA1428507740 | TP63 | c.579G= (p.Thr193=) c.297G= (p.Thr99=) c.42+18684G= (n.42+18684G=) n.403G= c.528G= (p.Thr176=) c.576G= (p.Thr192=) c.573G= (p.Thr191=) c.540G= (p.Thr180=) | |
| 3 | g.189808526G>T | CA437413100 | TP63 | c.579G>T (p.Thr193=) c.297G>T (p.Thr99=) c.42+18684G>T (n.42+18684G>T) n.403G>T c.528G>T (p.Thr176=) c.576G>T (p.Thr192=) c.573G>T (p.Thr191=) c.540G>T (p.Thr180=) | |
| 3 | g.189808527G>A | CA355750866 | TP63 | c.579+1G>A (n.579+1G>A) c.297+1G>A (n.297+1G>A) c.42+18685G>A (n.42+18685G>A) n.403+1G>A c.528+1G>A (n.528+1G>A) c.576+1G>A (n.576+1G>A) c.573+1G>A (n.573+1G>A) c.540+1G>A (n.540+1G>A) | COSMIC COSMIC |
| 3 | g.189808527G>C | CA355750867 | TP63 | c.579+1G>C (n.579+1G>C) c.297+1G>C (n.297+1G>C) c.42+18685G>C (n.42+18685G>C) n.403+1G>C c.528+1G>C (n.528+1G>C) c.576+1G>C (n.576+1G>C) c.573+1G>C (n.573+1G>C) c.540+1G>C (n.540+1G>C) | |
| 3 | g.189808527G>T | CA355750868 | TP63 | c.579+1G>T (n.579+1G>T) c.297+1G>T (n.297+1G>T) c.42+18685G>T (n.42+18685G>T) n.403+1G>T c.528+1G>T (n.528+1G>T) c.576+1G>T (n.576+1G>T) c.573+1G>T (n.573+1G>T) c.540+1G>T (n.540+1G>T) | |
| 3 | g.189808528T>A | CA355750871 | TP63 | c.579+2T>A (n.579+2T>A) c.297+2T>A (n.297+2T>A) c.42+18686T>A (n.42+18686T>A) n.403+2T>A c.528+2T>A (n.528+2T>A) c.576+2T>A (n.576+2T>A) c.573+2T>A (n.573+2T>A) c.540+2T>A (n.540+2T>A) | |
| 3 | g.189808528T>C | CA355750870 | TP63 | c.579+2T>C (n.579+2T>C) c.297+2T>C (n.297+2T>C) c.42+18686T>C (n.42+18686T>C) n.403+2T>C c.528+2T>C (n.528+2T>C) c.576+2T>C (n.576+2T>C) c.573+2T>C (n.573+2T>C) c.540+2T>C (n.540+2T>C) | |
| 3 | g.189808528T>G | CA355750869 | TP63 | c.579+2T>G (n.579+2T>G) c.297+2T>G (n.297+2T>G) c.42+18686T>G (n.42+18686T>G) n.403+2T>G c.528+2T>G (n.528+2T>G) c.576+2T>G (n.576+2T>G) c.573+2T>G (n.573+2T>G) c.540+2T>G (n.540+2T>G) | |
| 3 | g.189808528_189808537delinsTAAGAGCAGC | CA1428507743 | TP63 | c.579+2_579+11delinsTAAGAGCAGC (n.579+2_579+11delinsTAAGAGCAGC) c.297+2_297+11delinsTAAGAGCAGC (n.297+2_297+11delinsTAAGAGCAGC) c.42+18686_42+18695delinsTAAGAGCAGC (n.42+18686_42+18695delinsTAAGAGCAGC) n.403+2_403+11delinsTAAGAGCAGC c.528+2_528+11delinsTAAGAGCAGC (n.528+2_528+11delinsTAAGAGCAGC) c.576+2_576+11delinsTAAGAGCAGC (n.576+2_576+11delinsTAAGAGCAGC) c.573+2_573+11delinsTAAGAGCAGC (n.573+2_573+11delinsTAAGAGCAGC) c.540+2_540+11delinsTAAGAGCAGC (n.540+2_540+11delinsTAAGAGCAGC) | |
| 3 | g.189808529_189808537del | CA1428507746 | TP63 | c.579+3_579+11del (n.579+3_579+11del) c.297+3_297+11del (n.297+3_297+11del) c.42+18687_42+18695del (n.42+18687_42+18695del) n.403+3_403+11del c.528+3_528+11del (n.528+3_528+11del) c.576+3_576+11del (n.576+3_576+11del) c.573+3_573+11del (n.573+3_573+11del) c.540+3_540+11del (n.540+3_540+11del) | dbSNP |
| 3 | g.189808533G= | CA1428507748 | TP63 | c.579+7G= (n.579+7G=) c.297+7G= (n.297+7G=) c.42+18691G= (n.42+18691G=) n.403+7G= c.528+7G= (n.528+7G=) c.576+7G= (n.576+7G=) c.573+7G= (n.573+7G=) c.540+7G= (n.540+7G=) | |
| 3 | g.189808533G>T | CA2752162 | TP63 | c.579+7G>T (n.579+7G>T) c.297+7G>T (n.297+7G>T) c.42+18691G>T (n.42+18691G>T) n.403+7G>T c.528+7G>T (n.528+7G>T) c.576+7G>T (n.576+7G>T) c.573+7G>T (n.573+7G>T) c.540+7G>T (n.540+7G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189808534C= | CA1428507750 | TP63 | c.579+8C= (n.579+8C=) c.297+8C= (n.297+8C=) c.42+18692C= (n.42+18692C=) n.403+8C= c.528+8C= (n.528+8C=) c.576+8C= (n.576+8C=) c.573+8C= (n.573+8C=) c.540+8C= (n.540+8C=) | |
| 3 | g.189808534C>T | CA89711730 | TP63 | c.579+8C>T (n.579+8C>T) c.297+8C>T (n.297+8C>T) c.42+18692C>T (n.42+18692C>T) n.403+8C>T c.528+8C>T (n.528+8C>T) c.576+8C>T (n.576+8C>T) c.573+8C>T (n.573+8C>T) c.540+8C>T (n.540+8C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189808536G>T | CA2669039995 | TP63 | c.579+10G>T (n.579+10G>T) c.297+10G>T (n.297+10G>T) c.42+18694G>T (n.42+18694G>T) n.403+10G>T c.528+10G>T (n.528+10G>T) c.576+10G>T (n.576+10G>T) c.573+10G>T (n.573+10G>T) c.540+10G>T (n.540+10G>T) | gnomAD v4 |
| 3 | g.189808537C= | CA1428507755 | TP63 | c.579+11C= (n.579+11C=) c.297+11C= (n.297+11C=) c.42+18695C= (n.42+18695C=) n.403+11C= c.528+11C= (n.528+11C=) c.576+11C= (n.576+11C=) c.573+11C= (n.573+11C=) c.540+11C= (n.540+11C=) | |
| 3 | g.189808537C>T | CA2752163 | TP63 | c.579+11C>T (n.579+11C>T) c.297+11C>T (n.297+11C>T) c.42+18695C>T (n.42+18695C>T) n.403+11C>T c.528+11C>T (n.528+11C>T) c.576+11C>T (n.576+11C>T) c.573+11C>T (n.573+11C>T) c.540+11C>T (n.540+11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.189808538G>A | CA904252757 | TP63 | c.579+12G>A (n.579+12G>A) c.297+12G>A (n.297+12G>A) c.42+18696G>A (n.42+18696G>A) n.403+12G>A c.528+12G>A (n.528+12G>A) c.576+12G>A (n.576+12G>A) c.573+12G>A (n.573+12G>A) c.540+12G>A (n.540+12G>A) | dbSNP gnomAD v4 |
| 3 | g.189808538G= | CA1428507758 | TP63 | c.579+12G= (n.579+12G=) c.297+12G= (n.297+12G=) c.42+18696G= (n.42+18696G=) n.403+12G= c.528+12G= (n.528+12G=) c.576+12G= (n.576+12G=) c.573+12G= (n.573+12G=) c.540+12G= (n.540+12G=) | |
| 3 | g.189808539G>A | CA1057630713 | TP63 | c.579+13G>A (n.579+13G>A) c.297+13G>A (n.297+13G>A) c.42+18697G>A (n.42+18697G>A) n.403+13G>A c.528+13G>A (n.528+13G>A) c.576+13G>A (n.576+13G>A) c.573+13G>A (n.573+13G>A) c.540+13G>A (n.540+13G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.189808539G= | CA1428507760 | TP63 | c.579+13G= (n.579+13G=) c.297+13G= (n.297+13G=) c.42+18697G= (n.42+18697G=) n.403+13G= c.528+13G= (n.528+13G=) c.576+13G= (n.576+13G=) c.573+13G= (n.573+13G=) c.540+13G= (n.540+13G=) | |
| 3 | g.189808542A= | CA1428507762 | TP63 | c.579+16A= (n.579+16A=) c.297+16A= (n.297+16A=) c.42+18700A= (n.42+18700A=) n.403+16A= c.528+16A= (n.528+16A=) c.576+16A= (n.576+16A=) c.573+16A= (n.573+16A=) c.540+16A= (n.540+16A=) | |
| 3 | g.189808542A>G | CA89711742 | TP63 | c.579+16A>G (n.579+16A>G) c.297+16A>G (n.297+16A>G) c.42+18700A>G (n.42+18700A>G) n.403+16A>G c.528+16A>G (n.528+16A>G) c.576+16A>G (n.576+16A>G) c.573+16A>G (n.573+16A>G) c.540+16A>G (n.540+16A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189808543C= | CA1428507764 | TP63 | c.579+17C= (n.579+17C=) c.297+17C= (n.297+17C=) c.42+18701C= (n.42+18701C=) n.403+17C= c.528+17C= (n.528+17C=) c.576+17C= (n.576+17C=) c.573+17C= (n.573+17C=) c.540+17C= (n.540+17C=) | |
| 3 | g.189808543C>T | CA2752164 | TP63 | c.579+17C>T (n.579+17C>T) c.297+17C>T (n.297+17C>T) c.42+18701C>T (n.42+18701C>T) n.403+17C>T c.528+17C>T (n.528+17C>T) c.576+17C>T (n.576+17C>T) c.573+17C>T (n.573+17C>T) c.540+17C>T (n.540+17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.189808544G>A | CA1057630718 | TP63 | c.579+18G>A (n.579+18G>A) c.297+18G>A (n.297+18G>A) c.42+18702G>A (n.42+18702G>A) n.403+18G>A c.528+18G>A (n.528+18G>A) c.576+18G>A (n.576+18G>A) c.573+18G>A (n.573+18G>A) c.540+18G>A (n.540+18G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.189808544G>C | CA548481114 | TP63 | c.579+18G>C (n.579+18G>C) c.297+18G>C (n.297+18G>C) c.42+18702G>C (n.42+18702G>C) n.403+18G>C c.528+18G>C (n.528+18G>C) c.576+18G>C (n.576+18G>C) c.573+18G>C (n.573+18G>C) c.540+18G>C (n.540+18G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189808544G= | CA1428507768 | TP63 | c.579+18G= (n.579+18G=) c.297+18G= (n.297+18G=) c.42+18702G= (n.42+18702G=) n.403+18G= c.528+18G= (n.528+18G=) c.576+18G= (n.576+18G=) c.573+18G= (n.573+18G=) c.540+18G= (n.540+18G=) | |
| 3 | g.189808546A>G | CA2669039996 | TP63 | c.579+20A>G (n.579+20A>G) c.297+20A>G (n.297+20A>G) c.42+18704A>G (n.42+18704A>G) n.403+20A>G c.528+20A>G (n.528+20A>G) c.576+20A>G (n.576+20A>G) c.573+20A>G (n.573+20A>G) c.540+20A>G (n.540+20A>G) | gnomAD v4 |
| 3 | g.189808547C>T | CA2669039997 | TP63 | c.579+21C>T (n.579+21C>T) c.297+21C>T (n.297+21C>T) c.42+18705C>T (n.42+18705C>T) n.403+21C>T c.528+21C>T (n.528+21C>T) c.576+21C>T (n.576+21C>T) c.573+21C>T (n.573+21C>T) c.540+21C>T (n.540+21C>T) | gnomAD v4 |
| 3 | g.189808548A= | CA1428507771 | TP63 | c.579+22A= (n.579+22A=) c.297+22A= (n.297+22A=) c.42+18706A= (n.42+18706A=) n.403+22A= c.528+22A= (n.528+22A=) c.576+22A= (n.576+22A=) c.573+22A= (n.573+22A=) c.540+22A= (n.540+22A=) | |
| 3 | g.189808548A>G | CA2752165 | TP63 | c.579+22A>G (n.579+22A>G) c.297+22A>G (n.297+22A>G) c.42+18706A>G (n.42+18706A>G) n.403+22A>G c.528+22A>G (n.528+22A>G) c.576+22A>G (n.576+22A>G) c.573+22A>G (n.573+22A>G) c.540+22A>G (n.540+22A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.189808551C= | CA1428507775 | TP63 | c.579+25C= (n.579+25C=) c.297+25C= (n.297+25C=) c.42+18709C= (n.42+18709C=) n.403+25C= c.528+25C= (n.528+25C=) c.576+25C= (n.576+25C=) c.573+25C= (n.573+25C=) c.540+25C= (n.540+25C=) | |
| 3 | g.189808551C>G | CA2838954542 | TP63 | c.579+25C>G (n.579+25C>G) c.297+25C>G (n.297+25C>G) c.42+18709C>G (n.42+18709C>G) n.403+25C>G c.528+25C>G (n.528+25C>G) c.576+25C>G (n.576+25C>G) c.573+25C>G (n.573+25C>G) c.540+25C>G (n.540+25C>G) | |
| 3 | g.189808551C>T | CA548481115 | TP63 | c.579+25C>T (n.579+25C>T) c.297+25C>T (n.297+25C>T) c.42+18709C>T (n.42+18709C>T) n.403+25C>T c.528+25C>T (n.528+25C>T) c.576+25C>T (n.576+25C>T) c.573+25C>T (n.573+25C>T) c.540+25C>T (n.540+25C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189808552C= | CA1428507777 | TP63 | c.579+26C= (n.579+26C=) c.297+26C= (n.297+26C=) c.42+18710C= (n.42+18710C=) n.403+26C= c.528+26C= (n.528+26C=) c.576+26C= (n.576+26C=) c.573+26C= (n.573+26C=) c.540+26C= (n.540+26C=) | |
| 3 | g.189808552C>T | CA1428507778 | TP63 | c.579+26C>T (n.579+26C>T) c.297+26C>T (n.297+26C>T) c.42+18710C>T (n.42+18710C>T) n.403+26C>T c.528+26C>T (n.528+26C>T) c.576+26C>T (n.576+26C>T) c.573+26C>T (n.573+26C>T) c.540+26C>T (n.540+26C>T) | dbSNP |
| 3 | g.189808554G>T | CA2841219428 | TP63 | c.579+28G>T (n.579+28G>T) c.297+28G>T (n.297+28G>T) c.42+18712G>T (n.42+18712G>T) n.403+28G>T c.528+28G>T (n.528+28G>T) c.576+28G>T (n.576+28G>T) c.573+28G>T (n.573+28G>T) c.540+28G>T (n.540+28G>T) | |
| 3 | g.189808555A>G | CA2841219429 | TP63 | c.579+29A>G (n.579+29A>G) c.297+29A>G (n.297+29A>G) c.42+18713A>G (n.42+18713A>G) n.403+29A>G c.528+29A>G (n.528+29A>G) c.576+29A>G (n.576+29A>G) c.573+29A>G (n.573+29A>G) c.540+29A>G (n.540+29A>G) | |
| 3 | g.189808555_189808556delinsAC | CA1428507779 | TP63 | c.579+29_579+30delinsAC (n.579+29_579+30delinsAC) c.297+29_297+30delinsAC (n.297+29_297+30delinsAC) c.42+18713_42+18714delinsAC (n.42+18713_42+18714delinsAC) n.403+29_403+30delinsAC c.528+29_528+30delinsAC (n.528+29_528+30delinsAC) c.576+29_576+30delinsAC (n.576+29_576+30delinsAC) c.573+29_573+30delinsAC (n.573+29_573+30delinsAC) c.540+29_540+30delinsAC (n.540+29_540+30delinsAC) | |
| 3 | g.189808556C= | CA1428507785 | TP63 | c.579+30C= (n.579+30C=) c.297+30C= (n.297+30C=) c.42+18714C= (n.42+18714C=) n.403+30C= c.528+30C= (n.528+30C=) c.576+30C= (n.576+30C=) c.573+30C= (n.573+30C=) c.540+30C= (n.540+30C=) | |
| 3 | g.189808556C>G | CA2669039998 | TP63 | c.579+30C>G (n.579+30C>G) c.297+30C>G (n.297+30C>G) c.42+18714C>G (n.42+18714C>G) n.403+30C>G c.528+30C>G (n.528+30C>G) c.576+30C>G (n.576+30C>G) c.573+30C>G (n.573+30C>G) c.540+30C>G (n.540+30C>G) | gnomAD v4 |
| 3 | g.189808556C>T | CA2752166 | TP63 | c.579+30C>T (n.579+30C>T) c.297+30C>T (n.297+30C>T) c.42+18714C>T (n.42+18714C>T) n.403+30C>T c.528+30C>T (n.528+30C>T) c.576+30C>T (n.576+30C>T) c.573+30C>T (n.573+30C>T) c.540+30C>T (n.540+30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189808561dup | CA548481116 | TP63 | c.579+35dup (n.579+35dup) c.297+35dup (n.297+35dup) c.42+18719dup (n.42+18719dup) n.403+35dup c.528+35dup (n.528+35dup) c.576+35dup (n.576+35dup) c.573+35dup (n.573+35dup) c.540+35dup (n.540+35dup) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.189808559_189808561dup | CA548481117 | TP63 | c.579+33_579+35dup (n.579+33_579+35dup) c.297+33_297+35dup (n.297+33_297+35dup) c.42+18717_42+18719dup (n.42+18717_42+18719dup) n.403+33_403+35dup c.528+33_528+35dup (n.528+33_528+35dup) c.576+33_576+35dup (n.576+33_576+35dup) c.573+33_573+35dup (n.573+33_573+35dup) c.540+33_540+35dup (n.540+33_540+35dup) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.189808561del | CA904252768 | TP63 | c.579+35del (n.579+35del) c.297+35del (n.297+35del) c.42+18719del (n.42+18719del) n.403+35del c.528+35del (n.528+35del) c.576+35del (n.576+35del) c.573+35del (n.573+35del) c.540+35del (n.540+35del) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.189808557C>A | CA904252776 | TP63 | c.579+31C>A (n.579+31C>A) c.297+31C>A (n.297+31C>A) c.42+18715C>A (n.42+18715C>A) n.403+31C>A c.528+31C>A (n.528+31C>A) c.576+31C>A (n.576+31C>A) c.573+31C>A (n.573+31C>A) c.540+31C>A (n.540+31C>A) | dbSNP |
| 3 | g.189808557C= | CA1428507788 | TP63 | c.579+31C= (n.579+31C=) c.297+31C= (n.297+31C=) c.42+18715C= (n.42+18715C=) n.403+31C= c.528+31C= (n.528+31C=) c.576+31C= (n.576+31C=) c.573+31C= (n.573+31C=) c.540+31C= (n.540+31C=) | |
| 3 | g.189808557C>T | CA904252773 | TP63 | c.579+31C>T (n.579+31C>T) c.297+31C>T (n.297+31C>T) c.42+18715C>T (n.42+18715C>T) n.403+31C>T c.528+31C>T (n.528+31C>T) c.576+31C>T (n.576+31C>T) c.573+31C>T (n.573+31C>T) c.540+31C>T (n.540+31C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.189808559C>A | CA2740493068 | TP63 | c.579+33C>A (n.579+33C>A) c.297+33C>A (n.297+33C>A) c.42+18717C>A (n.42+18717C>A) n.403+33C>A c.528+33C>A (n.528+33C>A) c.576+33C>A (n.576+33C>A) c.573+33C>A (n.573+33C>A) c.540+33C>A (n.540+33C>A) | |
| 3 | g.189808559C= | CA1428507792 | TP63 | c.579+33C= (n.579+33C=) c.297+33C= (n.297+33C=) c.42+18717C= (n.42+18717C=) n.403+33C= c.528+33C= (n.528+33C=) c.576+33C= (n.576+33C=) c.573+33C= (n.573+33C=) c.540+33C= (n.540+33C=) | |
| 3 | g.189808559C>G | CA548481118 | TP63 | c.579+33C>G (n.579+33C>G) c.297+33C>G (n.297+33C>G) c.42+18717C>G (n.42+18717C>G) n.403+33C>G c.528+33C>G (n.528+33C>G) c.576+33C>G (n.576+33C>G) c.573+33C>G (n.573+33C>G) c.540+33C>G (n.540+33C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189808559C>T | CA548481119 | TP63 | c.579+33C>T (n.579+33C>T) c.297+33C>T (n.297+33C>T) c.42+18717C>T (n.42+18717C>T) n.403+33C>T c.528+33C>T (n.528+33C>T) c.576+33C>T (n.576+33C>T) c.573+33C>T (n.573+33C>T) c.540+33C>T (n.540+33C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.189808560C>A | CA2669040000 | TP63 | c.579+34C>A (n.579+34C>A) c.297+34C>A (n.297+34C>A) c.42+18718C>A (n.42+18718C>A) n.403+34C>A c.528+34C>A (n.528+34C>A) c.576+34C>A (n.576+34C>A) c.573+34C>A (n.573+34C>A) c.540+34C>A (n.540+34C>A) | gnomAD v4 |
| 3 | g.189808560C= | CA1428507795 | TP63 | c.579+34C= (n.579+34C=) c.297+34C= (n.297+34C=) c.42+18718C= (n.42+18718C=) n.403+34C= c.528+34C= (n.528+34C=) c.576+34C= (n.576+34C=) c.573+34C= (n.573+34C=) c.540+34C= (n.540+34C=) | |
| 3 | g.189808560C>G | CA2669039999 | TP63 | c.579+34C>G (n.579+34C>G) c.297+34C>G (n.297+34C>G) c.42+18718C>G (n.42+18718C>G) n.403+34C>G c.528+34C>G (n.528+34C>G) c.576+34C>G (n.576+34C>G) c.573+34C>G (n.573+34C>G) c.540+34C>G (n.540+34C>G) | gnomAD v4 |
| 3 | g.189808560C>T | CA548481120 | TP63 | c.579+34C>T (n.579+34C>T) c.297+34C>T (n.297+34C>T) c.42+18718C>T (n.42+18718C>T) n.403+34C>T c.528+34C>T (n.528+34C>T) c.576+34C>T (n.576+34C>T) c.573+34C>T (n.573+34C>T) c.540+34C>T (n.540+34C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189808561C>A | CA2669040001 | TP63 | c.579+35C>A (n.579+35C>A) c.297+35C>A (n.297+35C>A) c.42+18719C>A (n.42+18719C>A) n.403+35C>A c.528+35C>A (n.528+35C>A) c.576+35C>A (n.576+35C>A) c.573+35C>A (n.573+35C>A) c.540+35C>A (n.540+35C>A) | gnomAD v4 |
| 3 | g.189808561C= | CA1428507798 | TP63 | c.579+35C= (n.579+35C=) c.297+35C= (n.297+35C=) c.42+18719C= (n.42+18719C=) n.403+35C= c.528+35C= (n.528+35C=) c.576+35C= (n.576+35C=) c.573+35C= (n.573+35C=) c.540+35C= (n.540+35C=) | |
| 3 | g.189808561C>T | CA2752167 | TP63 | c.579+35C>T (n.579+35C>T) c.297+35C>T (n.297+35C>T) c.42+18719C>T (n.42+18719C>T) n.403+35C>T c.528+35C>T (n.528+35C>T) c.576+35C>T (n.576+35C>T) c.573+35C>T (n.573+35C>T) c.540+35C>T (n.540+35C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189808563A= | CA1428507800 | TP63 | c.579+37A= (n.579+37A=) c.297+37A= (n.297+37A=) c.42+18721A= (n.42+18721A=) n.403+37A= c.528+37A= (n.528+37A=) c.576+37A= (n.576+37A=) c.573+37A= (n.573+37A=) c.540+37A= (n.540+37A=) | |
| 3 | g.189808563A>G | CA2752168 | TP63 | c.579+37A>G (n.579+37A>G) c.297+37A>G (n.297+37A>G) c.42+18721A>G (n.42+18721A>G) n.403+37A>G c.528+37A>G (n.528+37A>G) c.576+37A>G (n.576+37A>G) c.573+37A>G (n.573+37A>G) c.540+37A>G (n.540+37A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.189808564G>A | CA2752169 | TP63 | c.579+38G>A (n.579+38G>A) c.297+38G>A (n.297+38G>A) c.42+18722G>A (n.42+18722G>A) n.403+38G>A c.528+38G>A (n.528+38G>A) c.576+38G>A (n.576+38G>A) c.573+38G>A (n.573+38G>A) c.540+38G>A (n.540+38G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189808564G= | CA1428507802 | TP63 | c.579+38G= (n.579+38G=) c.297+38G= (n.297+38G=) c.42+18722G= (n.42+18722G=) n.403+38G= c.528+38G= (n.528+38G=) c.576+38G= (n.576+38G=) c.573+38G= (n.573+38G=) c.540+38G= (n.540+38G=) | |
| 3 | g.189808565T>A | CA2752170 | TP63 | c.579+39T>A (n.579+39T>A) c.297+39T>A (n.297+39T>A) c.42+18723T>A (n.42+18723T>A) n.403+39T>A c.528+39T>A (n.528+39T>A) c.576+39T>A (n.576+39T>A) c.573+39T>A (n.573+39T>A) c.540+39T>A (n.540+39T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189808565T>C | CA2752171 | TP63 | c.579+39T>C (n.579+39T>C) c.297+39T>C (n.297+39T>C) c.42+18723T>C (n.42+18723T>C) n.403+39T>C c.528+39T>C (n.528+39T>C) c.576+39T>C (n.576+39T>C) c.573+39T>C (n.573+39T>C) c.540+39T>C (n.540+39T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189808565T= | CA1428507807 | TP63 | c.579+39T= (n.579+39T=) c.297+39T= (n.297+39T=) c.42+18723T= (n.42+18723T=) n.403+39T= c.528+39T= (n.528+39T=) c.576+39T= (n.576+39T=) c.573+39T= (n.573+39T=) c.540+39T= (n.540+39T=) | |
| 3 | g.189808566C>A | CA648098170 | TP63 | c.579+40C>A (n.579+40C>A) c.297+40C>A (n.297+40C>A) c.42+18724C>A (n.42+18724C>A) n.403+40C>A c.528+40C>A (n.528+40C>A) c.576+40C>A (n.576+40C>A) c.573+40C>A (n.573+40C>A) c.540+40C>A (n.540+40C>A) | gnomAD v4 COSMIC |
| 3 | g.189808566C= | CA1428507810 | TP63 | c.579+40C= (n.579+40C=) c.297+40C= (n.297+40C=) c.42+18724C= (n.42+18724C=) n.403+40C= c.528+40C= (n.528+40C=) c.576+40C= (n.576+40C=) c.573+40C= (n.573+40C=) c.540+40C= (n.540+40C=) | |
| 3 | g.189808566C>T | CA1428507811 | TP63 | c.579+40C>T (n.579+40C>T) c.297+40C>T (n.297+40C>T) c.42+18724C>T (n.42+18724C>T) n.403+40C>T c.528+40C>T (n.528+40C>T) c.576+40C>T (n.576+40C>T) c.573+40C>T (n.573+40C>T) c.540+40C>T (n.540+40C>T) | dbSNP |
| 3 | g.189808567del | CA2577989804 | TP63 | c.579+41del (n.579+41del) c.297+41del (n.297+41del) c.42+18725del (n.42+18725del) n.403+41del c.528+41del (n.528+41del) c.576+41del (n.576+41del) c.573+41del (n.573+41del) c.540+41del (n.540+41del) | gnomAD v4 |
| 3 | g.189808570G>A | CA2669040002 | TP63 | c.579+44G>A (n.579+44G>A) c.297+44G>A (n.297+44G>A) c.42+18728G>A (n.42+18728G>A) n.403+44G>A c.528+44G>A (n.528+44G>A) c.576+44G>A (n.576+44G>A) c.573+44G>A (n.573+44G>A) c.540+44G>A (n.540+44G>A) | gnomAD v4 |
| 3 | g.189808570G>T | CA2669040003 | TP63 | c.579+44G>T (n.579+44G>T) c.297+44G>T (n.297+44G>T) c.42+18728G>T (n.42+18728G>T) n.403+44G>T c.528+44G>T (n.528+44G>T) c.576+44G>T (n.576+44G>T) c.573+44G>T (n.573+44G>T) c.540+44G>T (n.540+44G>T) | gnomAD v4 |
| 3 | g.189808571G>A | CA2669040004 | TP63 | c.579+45G>A (n.579+45G>A) c.297+45G>A (n.297+45G>A) c.42+18729G>A (n.42+18729G>A) n.403+45G>A c.528+45G>A (n.528+45G>A) c.576+45G>A (n.576+45G>A) c.573+45G>A (n.573+45G>A) c.540+45G>A (n.540+45G>A) | gnomAD v4 |
| 3 | g.189808572A>G | CA2669040005 | TP63 | c.579+46A>G (n.579+46A>G) c.297+46A>G (n.297+46A>G) c.42+18730A>G (n.42+18730A>G) n.403+46A>G c.528+46A>G (n.528+46A>G) c.576+46A>G (n.576+46A>G) c.573+46A>G (n.573+46A>G) c.540+46A>G (n.540+46A>G) | gnomAD v4 |
| 3 | g.189808573T>C | CA2752172 | TP63 | c.579+47T>C (n.579+47T>C) c.297+47T>C (n.297+47T>C) c.42+18731T>C (n.42+18731T>C) n.403+47T>C c.528+47T>C (n.528+47T>C) c.576+47T>C (n.576+47T>C) c.573+47T>C (n.573+47T>C) c.540+47T>C (n.540+47T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.189808573T= | CA1428507813 | TP63 | c.579+47T= (n.579+47T=) c.297+47T= (n.297+47T=) c.42+18731T= (n.42+18731T=) n.403+47T= c.528+47T= (n.528+47T=) c.576+47T= (n.576+47T=) c.573+47T= (n.573+47T=) c.540+47T= (n.540+47T=) | |
| 3 | g.189808574G>A | CA2759857933 | TP63 | c.579+48G>A (n.579+48G>A) c.297+48G>A (n.297+48G>A) c.42+18732G>A (n.42+18732G>A) n.403+48G>A c.528+48G>A (n.528+48G>A) c.576+48G>A (n.576+48G>A) c.573+48G>A (n.573+48G>A) c.540+48G>A (n.540+48G>A) |