| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15644488G>A | CA220331 | BTD | c.572G>A (p.Arg191His) c.399+2431G>A (n.399+2431G>A) c.165+2431G>A (n.165+2431G>A) c.632G>A (p.Arg211His) c.638G>A (p.Arg213His) c.350G>A (p.Arg117His) c.*2350G>A (n.*2350G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644488G>C | CA351606699 | BTD | c.572G>C (p.Arg191Pro) c.399+2431G>C (n.399+2431G>C) c.165+2431G>C (n.165+2431G>C) c.632G>C (p.Arg211Pro) c.638G>C (p.Arg213Pro) c.350G>C (p.Arg117Pro) c.*2350G>C (n.*2350G>C) | |
| 3 | g.15644488G= | CA1347663817 | BTD | c.572G= (p.Arg191=) c.399+2431G= (n.399+2431G=) c.165+2431G= (n.165+2431G=) c.632G= (p.Arg211=) c.638G= (p.Arg213=) c.350G= (p.Arg117=) c.*2350G= (n.*2350G=) | |
| 3 | g.15644488G>T | CA351606701 | BTD | c.572G>T (p.Arg191Leu) c.399+2431G>T (n.399+2431G>T) c.165+2431G>T (n.165+2431G>T) c.632G>T (p.Arg211Leu) c.638G>T (p.Arg213Leu) c.350G>T (p.Arg117Leu) c.*2350G>T (n.*2350G>T) | |
| 3 | g.15644489T>A | CA432819344 | BTD | c.573T>A (p.Arg191=) c.399+2432T>A (n.399+2432T>A) c.165+2432T>A (n.165+2432T>A) c.633T>A (p.Arg211=) c.639T>A (p.Arg213=) c.351T>A (p.Arg117=) c.*2351T>A (n.*2351T>A) | |
| 3 | g.15644489T>C | CA432819346 | BTD | c.573T>C (p.Arg191=) c.399+2432T>C (n.399+2432T>C) c.165+2432T>C (n.165+2432T>C) c.633T>C (p.Arg211=) c.639T>C (p.Arg213=) c.351T>C (p.Arg117=) c.*2351T>C (n.*2351T>C) | |
| 3 | g.15644489T>G | CA432819345 | BTD | c.573T>G (p.Arg191=) c.399+2432T>G (n.399+2432T>G) c.165+2432T>G (n.165+2432T>G) c.633T>G (p.Arg211=) c.639T>G (p.Arg213=) c.351T>G (p.Arg117=) c.*2351T>G (n.*2351T>G) | |
| 3 | g.15644490A>C | CA351606708 | BTD | c.574A>C (p.Lys192Gln) c.399+2433A>C (n.399+2433A>C) c.165+2433A>C (n.165+2433A>C) c.634A>C (p.Lys212Gln) c.640A>C (p.Lys214Gln) c.352A>C (p.Lys118Gln) c.*2352A>C (n.*2352A>C) | |
| 3 | g.15644490A>G | CA351606706 | BTD | c.574A>G (p.Lys192Glu) c.399+2433A>G (n.399+2433A>G) c.165+2433A>G (n.165+2433A>G) c.634A>G (p.Lys212Glu) c.640A>G (p.Lys214Glu) c.352A>G (p.Lys118Glu) c.*2352A>G (n.*2352A>G) | |
| 3 | g.15644490A>T | CA351606704 | BTD | c.574A>T (p.Lys192Ter) c.399+2433A>T (n.399+2433A>T) c.165+2433A>T (n.165+2433A>T) c.634A>T (p.Lys212Ter) c.640A>T (p.Lys214Ter) c.352A>T (p.Lys118Ter) c.*2352A>T (n.*2352A>T) | |
| 3 | g.15644491A>C | CA351606710 | BTD | c.575A>C (p.Lys192Thr) c.399+2434A>C (n.399+2434A>C) c.165+2434A>C (n.165+2434A>C) c.635A>C (p.Lys212Thr) c.641A>C (p.Lys214Thr) c.353A>C (p.Lys118Thr) c.*2353A>C (n.*2353A>C) | |
| 3 | g.15644491A>G | CA351606712 | BTD | c.575A>G (p.Lys192Arg) c.399+2434A>G (n.399+2434A>G) c.165+2434A>G (n.165+2434A>G) c.635A>G (p.Lys212Arg) c.641A>G (p.Lys214Arg) c.353A>G (p.Lys118Arg) c.*2353A>G (n.*2353A>G) | |
| 3 | g.15644491A>T | CA351606713 | BTD | c.575A>T (p.Lys192Ile) c.399+2434A>T (n.399+2434A>T) c.165+2434A>T (n.165+2434A>T) c.635A>T (p.Lys212Ile) c.641A>T (p.Lys214Ile) c.353A>T (p.Lys118Ile) c.*2353A>T (n.*2353A>T) | |
| 3 | g.15644492A>C | CA351606716 | BTD | c.576A>C (p.Lys192Asn) c.399+2435A>C (n.399+2435A>C) c.165+2435A>C (n.165+2435A>C) c.636A>C (p.Lys212Asn) c.642A>C (p.Lys214Asn) c.354A>C (p.Lys118Asn) c.*2354A>C (n.*2354A>C) | |
| 3 | g.15644492A>G | CA432819348 | BTD | c.576A>G (p.Lys192=) c.399+2435A>G (n.399+2435A>G) c.165+2435A>G (n.165+2435A>G) c.636A>G (p.Lys212=) c.642A>G (p.Lys214=) c.354A>G (p.Lys118=) c.*2354A>G (n.*2354A>G) | |
| 3 | g.15644492A>T | CA351606718 | BTD | c.576A>T (p.Lys192Asn) c.399+2435A>T (n.399+2435A>T) c.165+2435A>T (n.165+2435A>T) c.636A>T (p.Lys212Asn) c.642A>T (p.Lys214Asn) c.354A>T (p.Lys118Asn) c.*2354A>T (n.*2354A>T) | |
| 3 | g.15644492_15644493delinsAC | CA1347663825 | BTD | c.576_577delinsAC (p.Lys192=) c.399+2435_399+2436delinsAC (n.399+2435_399+2436delinsAC) c.165+2435_165+2436delinsAC (n.165+2435_165+2436delinsAC) c.636_637delinsAC (p.Lys212=) c.642_643delinsAC (p.Lys214=) c.354_355delinsAC (p.Lys118=) c.*2354_*2355delinsAC (n.*2354_*2355delinsAC) | |
| 3 | g.15644493del | CA2277352 | BTD | c.577del (p.His193ThrfsTer?) c.399+2436del (n.399+2436del) c.165+2436del (n.165+2436del) c.637del (p.His213ThrfsTer?) c.643del (p.His215ThrfsTer?) c.355del (p.His119ThrfsTer?) c.*2355del (n.*2355del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644493C>A | CA351606719 | BTD | c.577C>A (p.His193Asn) c.399+2436C>A (n.399+2436C>A) c.165+2436C>A (n.165+2436C>A) c.637C>A (p.His213Asn) c.643C>A (p.His215Asn) c.355C>A (p.His119Asn) c.*2355C>A (n.*2355C>A) | |
| 3 | g.15644493C>G | CA351606721 | BTD | c.577C>G (p.His193Asp) c.399+2436C>G (n.399+2436C>G) c.165+2436C>G (n.165+2436C>G) c.637C>G (p.His213Asp) c.643C>G (p.His215Asp) c.355C>G (p.His119Asp) c.*2355C>G (n.*2355C>G) | |
| 3 | g.15644493C>T | CA351606723 | BTD | c.577C>T (p.His193Tyr) c.399+2436C>T (n.399+2436C>T) c.165+2436C>T (n.165+2436C>T) c.637C>T (p.His213Tyr) c.643C>T (p.His215Tyr) c.355C>T (p.His119Tyr) c.*2355C>T (n.*2355C>T) | |
| 3 | g.15644494A= | CA1347663834 | BTD | c.578A= (p.His193=) c.399+2437A= (n.399+2437A=) c.165+2437A= (n.165+2437A=) c.638A= (p.His213=) c.644A= (p.His215=) c.356A= (p.His119=) c.*2356A= (n.*2356A=) | |
| 3 | g.15644494A>C | CA351606726 | BTD | c.578A>C (p.His193Pro) c.399+2437A>C (n.399+2437A>C) c.165+2437A>C (n.165+2437A>C) c.638A>C (p.His213Pro) c.644A>C (p.His215Pro) c.356A>C (p.His119Pro) c.*2356A>C (n.*2356A>C) | |
| 3 | g.15644494A>G | CA2277353 | BTD | c.578A>G (p.His193Arg) c.399+2437A>G (n.399+2437A>G) c.165+2437A>G (n.165+2437A>G) c.638A>G (p.His213Arg) c.644A>G (p.His215Arg) c.356A>G (p.His119Arg) c.*2356A>G (n.*2356A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644494A>T | CA351606728 | BTD | c.578A>T (p.His193Leu) c.399+2437A>T (n.399+2437A>T) c.165+2437A>T (n.165+2437A>T) c.638A>T (p.His213Leu) c.644A>T (p.His215Leu) c.356A>T (p.His119Leu) c.*2356A>T (n.*2356A>T) | |
| 3 | g.15644495C>A | CA351606730 | BTD | c.579C>A (p.His193Gln) c.399+2438C>A (n.399+2438C>A) c.165+2438C>A (n.165+2438C>A) c.639C>A (p.His213Gln) c.645C>A (p.His215Gln) c.357C>A (p.His119Gln) c.*2357C>A (n.*2357C>A) | |
| 3 | g.15644495C= | CA1347663838 | BTD | c.579C= (p.His193=) c.399+2438C= (n.399+2438C=) c.165+2438C= (n.165+2438C=) c.639C= (p.His213=) c.645C= (p.His215=) c.357C= (p.His119=) c.*2357C= (n.*2357C=) | |
| 3 | g.15644495C>G | CA351606732 | BTD | c.579C>G (p.His193Gln) c.399+2438C>G (n.399+2438C>G) c.165+2438C>G (n.165+2438C>G) c.639C>G (p.His213Gln) c.645C>G (p.His215Gln) c.357C>G (p.His119Gln) c.*2357C>G (n.*2357C>G) | |
| 3 | g.15644495C>T | CA70621735 | BTD | c.579C>T (p.His193=) c.399+2438C>T (n.399+2438C>T) c.165+2438C>T (n.165+2438C>T) c.639C>T (p.His213=) c.645C>T (p.His215=) c.357C>T (p.His119=) c.*2357C>T (n.*2357C>T) | dbSNP |
| 3 | g.15644496A>C | CA351606735 | BTD | c.580A>C (p.Asn194His) c.399+2439A>C (n.399+2439A>C) c.165+2439A>C (n.165+2439A>C) c.640A>C (p.Asn214His) c.646A>C (p.Asn216His) c.358A>C (p.Asn120His) c.*2358A>C (n.*2358A>C) | |
| 3 | g.15644496A>G | CA351606736 | BTD | c.580A>G (p.Asn194Asp) c.399+2439A>G (n.399+2439A>G) c.165+2439A>G (n.165+2439A>G) c.640A>G (p.Asn214Asp) c.646A>G (p.Asn216Asp) c.358A>G (p.Asn120Asp) c.*2358A>G (n.*2358A>G) | gnomAD v4 |
| 3 | g.15644496A>T | CA351606734 | BTD | c.580A>T (p.Asn194Tyr) c.399+2439A>T (n.399+2439A>T) c.165+2439A>T (n.165+2439A>T) c.640A>T (p.Asn214Tyr) c.646A>T (p.Asn216Tyr) c.358A>T (p.Asn120Tyr) c.*2358A>T (n.*2358A>T) | |
| 3 | g.15644497A= | CA1347663844 | BTD | c.581A= (p.Asn194=) c.399+2440A= (n.399+2440A=) c.165+2440A= (n.165+2440A=) c.641A= (p.Asn214=) c.647A= (p.Asn216=) c.359A= (p.Asn120=) c.*2359A= (n.*2359A=) | |
| 3 | g.15644497A>C | CA351606737 | BTD | c.581A>C (p.Asn194Thr) c.399+2440A>C (n.399+2440A>C) c.165+2440A>C (n.165+2440A>C) c.641A>C (p.Asn214Thr) c.647A>C (p.Asn216Thr) c.359A>C (p.Asn120Thr) c.*2359A>C (n.*2359A>C) | |
| 3 | g.15644497A>G | CA278395 | BTD | c.581A>G (p.Asn194Ser) c.399+2440A>G (n.399+2440A>G) c.165+2440A>G (n.165+2440A>G) c.641A>G (p.Asn214Ser) c.647A>G (p.Asn216Ser) c.359A>G (p.Asn120Ser) c.*2359A>G (n.*2359A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.[15644497A>G;15645186G>C] | CA357866 | BTD | c.[581A>G;1270G>C] (p.[Asn194Ser;Asp424His]) c.[399+2440A>G;399+3129G>C] (n.[399+2440A>G;399+3129G>C]) c.[581A>G;1015+255G>C] (p.Asn194Ser) c.[165+2440A>G;165+3129G>C] (n.[165+2440A>G;165+3129G>C]) c.[641A>G;1330G>C] (p.[Asn214Ser;Asp444His]) c.[647A>G;1336G>C] (p.[Asn216Ser;Asp446His]) c.[359A>G;793+255G>C] (p.Asn120Ser) c.[*2359A>G;*3048G>C] (n.[*2359A>G;*3048G>C]) | |
| 3 | g.15644497A>T | CA351606738 | BTD | c.581A>T (p.Asn194Ile) c.399+2440A>T (n.399+2440A>T) c.165+2440A>T (n.165+2440A>T) c.641A>T (p.Asn214Ile) c.647A>T (p.Asn216Ile) c.359A>T (p.Asn120Ile) c.*2359A>T (n.*2359A>T) | |
| 3 | g.15644498C>A | CA351606739 | BTD | c.582C>A (p.Asn194Lys) c.399+2441C>A (n.399+2441C>A) c.165+2441C>A (n.165+2441C>A) c.642C>A (p.Asn214Lys) c.648C>A (p.Asn216Lys) c.360C>A (p.Asn120Lys) c.*2360C>A (n.*2360C>A) | |
| 3 | g.15644498C>G | CA351606740 | BTD | c.582C>G (p.Asn194Lys) c.399+2441C>G (n.399+2441C>G) c.165+2441C>G (n.165+2441C>G) c.642C>G (p.Asn214Lys) c.648C>G (p.Asn216Lys) c.360C>G (p.Asn120Lys) c.*2360C>G (n.*2360C>G) | |
| 3 | g.15644498C>T | CA432819353 | BTD | c.582C>T (p.Asn194=) c.399+2441C>T (n.399+2441C>T) c.165+2441C>T (n.165+2441C>T) c.642C>T (p.Asn214=) c.648C>T (p.Asn216=) c.360C>T (p.Asn120=) c.*2360C>T (n.*2360C>T) | |
| 3 | g.15644499C>A | CA351606741 | BTD | c.583C>A (p.Leu195Ile) c.399+2442C>A (n.399+2442C>A) c.165+2442C>A (n.165+2442C>A) c.643C>A (p.Leu215Ile) c.649C>A (p.Leu217Ile) c.361C>A (p.Leu121Ile) c.*2361C>A (n.*2361C>A) | |
| 3 | g.15644499C= | CA1347663853 | BTD | c.583C= (p.Leu195=) c.399+2442C= (n.399+2442C=) c.165+2442C= (n.165+2442C=) c.643C= (p.Leu215=) c.649C= (p.Leu217=) c.361C= (p.Leu121=) c.*2361C= (n.*2361C=) | |
| 3 | g.15644499C>G | CA2277354 | BTD | c.583C>G (p.Leu195Val) c.399+2442C>G (n.399+2442C>G) c.165+2442C>G (n.165+2442C>G) c.643C>G (p.Leu215Val) c.649C>G (p.Leu217Val) c.361C>G (p.Leu121Val) c.*2361C>G (n.*2361C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644499C>T | CA278243 | BTD | c.583C>T (p.Leu195Phe) c.399+2442C>T (n.399+2442C>T) c.165+2442C>T (n.165+2442C>T) c.643C>T (p.Leu215Phe) c.649C>T (p.Leu217Phe) c.361C>T (p.Leu121Phe) c.*2361C>T (n.*2361C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644500T>A | CA351606742 | BTD | c.584T>A (p.Leu195His) c.399+2443T>A (n.399+2443T>A) c.165+2443T>A (n.165+2443T>A) c.644T>A (p.Leu215His) c.650T>A (p.Leu217His) c.362T>A (p.Leu121His) c.*2362T>A (n.*2362T>A) | |
| 3 | g.15644500T>C | CA351606743 | BTD | c.584T>C (p.Leu195Pro) c.399+2443T>C (n.399+2443T>C) c.165+2443T>C (n.165+2443T>C) c.644T>C (p.Leu215Pro) c.650T>C (p.Leu217Pro) c.362T>C (p.Leu121Pro) c.*2362T>C (n.*2362T>C) | |
| 3 | g.15644500T>G | CA351606744 | BTD | c.584T>G (p.Leu195Arg) c.399+2443T>G (n.399+2443T>G) c.165+2443T>G (n.165+2443T>G) c.644T>G (p.Leu215Arg) c.650T>G (p.Leu217Arg) c.362T>G (p.Leu121Arg) c.*2362T>G (n.*2362T>G) | |
| 3 | g.15644501C>A | CA432819356 | BTD | c.585C>A (p.Leu195=) c.399+2444C>A (n.399+2444C>A) c.165+2444C>A (n.165+2444C>A) c.645C>A (p.Leu215=) c.651C>A (p.Leu217=) c.363C>A (p.Leu121=) c.*2363C>A (n.*2363C>A) | |
| 3 | g.15644501C= | CA1347663863 | BTD | c.585C= (p.Leu195=) c.399+2444C= (n.399+2444C=) c.165+2444C= (n.165+2444C=) c.645C= (p.Leu215=) c.651C= (p.Leu217=) c.363C= (p.Leu121=) c.*2363C= (n.*2363C=) | |
| 3 | g.15644501C>G | CA432819358 | BTD | c.585C>G (p.Leu195=) c.399+2444C>G (n.399+2444C>G) c.165+2444C>G (n.165+2444C>G) c.645C>G (p.Leu215=) c.651C>G (p.Leu217=) c.363C>G (p.Leu121=) c.*2363C>G (n.*2363C>G) |