Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.15644547_15644548delinsAC | CA1347663963 | BTD | c.631_632delinsAC (p.Thr211=) c.399+2490_399+2491delinsAC (n.399+2490_399+2491delinsAC) c.165+2490_165+2491delinsAC (n.165+2490_165+2491delinsAC) c.691_692delinsAC (p.Thr231=) c.697_698delinsAC (p.Thr233=) c.409_410delinsAC (p.Thr137=) c.*2409_*2410delinsAC (n.*2409_*2410delinsAC) | |
3 | g.15644548C>A | CA351606844 | BTD | c.632C>A (p.Thr211Asn) c.399+2491C>A (n.399+2491C>A) c.165+2491C>A (n.165+2491C>A) c.692C>A (p.Thr231Asn) c.698C>A (p.Thr233Asn) c.410C>A (p.Thr137Asn) c.*2410C>A (n.*2410C>A) | |
3 | g.15644548C= | CA1347663973 | BTD | c.632C= (p.Thr211=) c.399+2491C= (n.399+2491C=) c.165+2491C= (n.165+2491C=) c.692C= (p.Thr231=) c.698C= (p.Thr233=) c.410C= (p.Thr137=) c.*2410C= (n.*2410C=) | |
3 | g.15644548C>G | CA351606845 | BTD | c.632C>G (p.Thr211Ser) c.399+2491C>G (n.399+2491C>G) c.165+2491C>G (n.165+2491C>G) c.692C>G (p.Thr231Ser) c.698C>G (p.Thr233Ser) c.410C>G (p.Thr137Ser) c.*2410C>G (n.*2410C>G) | |
3 | g.15644548C>T | CA2277361 | BTD | c.632C>T (p.Thr211Ile) c.399+2491C>T (n.399+2491C>T) c.165+2491C>T (n.165+2491C>T) c.692C>T (p.Thr231Ile) c.698C>T (p.Thr233Ile) c.410C>T (p.Thr137Ile) c.*2410C>T (n.*2410C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.15644549del | CA658761158 | BTD | c.633del (p.Phe212LeufsTer?) c.399+2492del (n.399+2492del) c.165+2492del (n.165+2492del) c.693del (p.Phe232LeufsTer?) c.699del (p.Phe234LeufsTer?) c.411del (p.Phe138LeufsTer?) c.*2411del (n.*2411del) | |
3 | g.15644549C>A | CA432819123 | BTD | c.633C>A (p.Thr211=) c.399+2492C>A (n.399+2492C>A) c.165+2492C>A (n.165+2492C>A) c.693C>A (p.Thr231=) c.699C>A (p.Thr233=) c.411C>A (p.Thr137=) c.*2411C>A (n.*2411C>A) | |
3 | g.15644549C>G | CA432819124 | BTD | c.633C>G (p.Thr211=) c.399+2492C>G (n.399+2492C>G) c.165+2492C>G (n.165+2492C>G) c.693C>G (p.Thr231=) c.699C>G (p.Thr233=) c.411C>G (p.Thr137=) c.*2411C>G (n.*2411C>G) | |
3 | g.15644549C>T | CA432819125 | BTD | c.633C>T (p.Thr211=) c.399+2492C>T (n.399+2492C>T) c.165+2492C>T (n.165+2492C>T) c.693C>T (p.Thr231=) c.699C>T (p.Thr233=) c.411C>T (p.Thr137=) c.*2411C>T (n.*2411C>T) | |
3 | g.15644550T>A | CA351606846 | BTD | c.634T>A (p.Phe212Ile) c.399+2493T>A (n.399+2493T>A) c.165+2493T>A (n.165+2493T>A) c.694T>A (p.Phe232Ile) c.700T>A (p.Phe234Ile) c.412T>A (p.Phe138Ile) c.*2412T>A (n.*2412T>A) | |
3 | g.15644550T>C | CA351606847 | BTD | c.634T>C (p.Phe212Leu) c.399+2493T>C (n.399+2493T>C) c.165+2493T>C (n.165+2493T>C) c.694T>C (p.Phe232Leu) c.700T>C (p.Phe234Leu) c.412T>C (p.Phe138Leu) c.*2412T>C (n.*2412T>C) | |
3 | g.15644550T>G | CA351606848 | BTD | c.634T>G (p.Phe212Val) c.399+2493T>G (n.399+2493T>G) c.165+2493T>G (n.165+2493T>G) c.694T>G (p.Phe232Val) c.700T>G (p.Phe234Val) c.412T>G (p.Phe138Val) c.*2412T>G (n.*2412T>G) | |
3 | g.15644551T>A | CA351606849 | BTD | c.635T>A (p.Phe212Tyr) c.399+2494T>A (n.399+2494T>A) c.165+2494T>A (n.165+2494T>A) c.695T>A (p.Phe232Tyr) c.701T>A (p.Phe234Tyr) c.413T>A (p.Phe138Tyr) c.*2413T>A (n.*2413T>A) | |
3 | g.15644551T>C | CA351606850 | BTD | c.635T>C (p.Phe212Ser) c.399+2494T>C (n.399+2494T>C) c.165+2494T>C (n.165+2494T>C) c.695T>C (p.Phe232Ser) c.701T>C (p.Phe234Ser) c.413T>C (p.Phe138Ser) c.*2413T>C (n.*2413T>C) | |
3 | g.15644551T>G | CA2277362 | BTD | c.635T>G (p.Phe212Cys) c.399+2494T>G (n.399+2494T>G) c.165+2494T>G (n.165+2494T>G) c.695T>G (p.Phe232Cys) c.701T>G (p.Phe234Cys) c.413T>G (p.Phe138Cys) c.*2413T>G (n.*2413T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.15644551T= | CA1347663981 | BTD | c.635T= (p.Phe212=) c.399+2494T= (n.399+2494T=) c.165+2494T= (n.165+2494T=) c.695T= (p.Phe232=) c.701T= (p.Phe234=) c.413T= (p.Phe138=) c.*2413T= (n.*2413T=) | |
3 | g.15644552T>A | CA351606851 | BTD | c.636T>A (p.Phe212Leu) c.399+2495T>A (n.399+2495T>A) c.165+2495T>A (n.165+2495T>A) c.696T>A (p.Phe232Leu) c.702T>A (p.Phe234Leu) c.414T>A (p.Phe138Leu) c.*2414T>A (n.*2414T>A) | |
3 | g.15644552T>C | CA432819126 | BTD | c.636T>C (p.Phe212=) c.399+2495T>C (n.399+2495T>C) c.165+2495T>C (n.165+2495T>C) c.696T>C (p.Phe232=) c.702T>C (p.Phe234=) c.414T>C (p.Phe138=) c.*2414T>C (n.*2414T>C) | |
3 | g.15644552T>G | CA351606852 | BTD | c.636T>G (p.Phe212Leu) c.399+2495T>G (n.399+2495T>G) c.165+2495T>G (n.165+2495T>G) c.696T>G (p.Phe232Leu) c.702T>G (p.Phe234Leu) c.414T>G (p.Phe138Leu) c.*2414T>G (n.*2414T>G) | |
3 | g.15644553G>A | CA351606853 | BTD | c.637G>A (p.Asp213Asn) c.399+2496G>A (n.399+2496G>A) c.165+2496G>A (n.165+2496G>A) c.697G>A (p.Asp233Asn) c.703G>A (p.Asp235Asn) c.415G>A (p.Asp139Asn) c.*2415G>A (n.*2415G>A) | |
3 | g.15644553G>C | CA351606854 | BTD | c.637G>C (p.Asp213His) c.399+2496G>C (n.399+2496G>C) c.165+2496G>C (n.165+2496G>C) c.697G>C (p.Asp233His) c.703G>C (p.Asp235His) c.415G>C (p.Asp139His) c.*2415G>C (n.*2415G>C) | |
3 | g.15644553G>T | CA351606855 | BTD | c.637G>T (p.Asp213Tyr) c.399+2496G>T (n.399+2496G>T) c.165+2496G>T (n.165+2496G>T) c.697G>T (p.Asp233Tyr) c.703G>T (p.Asp235Tyr) c.415G>T (p.Asp139Tyr) c.*2415G>T (n.*2415G>T) | |
3 | g.15644554A>C | CA351606856 | BTD | c.638A>C (p.Asp213Ala) c.399+2497A>C (n.399+2497A>C) c.165+2497A>C (n.165+2497A>C) c.698A>C (p.Asp233Ala) c.704A>C (p.Asp235Ala) c.416A>C (p.Asp139Ala) c.*2416A>C (n.*2416A>C) | |
3 | g.15644554A>G | CA351606857 | BTD | c.638A>G (p.Asp213Gly) c.399+2497A>G (n.399+2497A>G) c.165+2497A>G (n.165+2497A>G) c.698A>G (p.Asp233Gly) c.704A>G (p.Asp235Gly) c.416A>G (p.Asp139Gly) c.*2416A>G (n.*2416A>G) | |
3 | g.15644554A>T | CA351606858 | BTD | c.638A>T (p.Asp213Val) c.399+2497A>T (n.399+2497A>T) c.165+2497A>T (n.165+2497A>T) c.698A>T (p.Asp233Val) c.704A>T (p.Asp235Val) c.416A>T (p.Asp139Val) c.*2416A>T (n.*2416A>T) | |
3 | g.15644555T>A | CA351606859 | BTD | c.639T>A (p.Asp213Glu) c.399+2498T>A (n.399+2498T>A) c.165+2498T>A (n.165+2498T>A) c.699T>A (p.Asp233Glu) c.705T>A (p.Asp235Glu) c.417T>A (p.Asp139Glu) c.*2417T>A (n.*2417T>A) | |
3 | g.15644555T>C | CA432819130 | BTD | c.639T>C (p.Asp213=) c.399+2498T>C (n.399+2498T>C) c.165+2498T>C (n.165+2498T>C) c.699T>C (p.Asp233=) c.705T>C (p.Asp235=) c.417T>C (p.Asp139=) c.*2417T>C (n.*2417T>C) | |
3 | g.15644555T>G | CA351606860 | BTD | c.639T>G (p.Asp213Glu) c.399+2498T>G (n.399+2498T>G) c.165+2498T>G (n.165+2498T>G) c.699T>G (p.Asp233Glu) c.705T>G (p.Asp235Glu) c.417T>G (p.Asp139Glu) c.*2417T>G (n.*2417T>G) | |
3 | g.15644556A>C | CA351606861 | BTD | c.640A>C (p.Thr214Pro) c.399+2499A>C (n.399+2499A>C) c.165+2499A>C (n.165+2499A>C) c.700A>C (p.Thr234Pro) c.706A>C (p.Thr236Pro) c.418A>C (p.Thr140Pro) c.*2418A>C (n.*2418A>C) | |
3 | g.15644556A>G | CA351606862 | BTD | c.640A>G (p.Thr214Ala) c.399+2499A>G (n.399+2499A>G) c.165+2499A>G (n.165+2499A>G) c.700A>G (p.Thr234Ala) c.706A>G (p.Thr236Ala) c.418A>G (p.Thr140Ala) c.*2418A>G (n.*2418A>G) | ClinVar |
3 | g.15644556A>T | CA351606863 | BTD | c.640A>T (p.Thr214Ser) c.399+2499A>T (n.399+2499A>T) c.165+2499A>T (n.165+2499A>T) c.700A>T (p.Thr234Ser) c.706A>T (p.Thr236Ser) c.418A>T (p.Thr140Ser) c.*2418A>T (n.*2418A>T) | |
3 | g.15644557C>A | CA351606865 | BTD | c.641C>A (p.Thr214Asn) c.399+2500C>A (n.399+2500C>A) c.165+2500C>A (n.165+2500C>A) c.701C>A (p.Thr234Asn) c.707C>A (p.Thr236Asn) c.419C>A (p.Thr140Asn) c.*2419C>A (n.*2419C>A) | |
3 | g.15644557C= | CA1347663985 | BTD | c.641C= (p.Thr214=) c.399+2500C= (n.399+2500C=) c.165+2500C= (n.165+2500C=) c.701C= (p.Thr234=) c.707C= (p.Thr236=) c.419C= (p.Thr140=) c.*2419C= (n.*2419C=) | |
3 | g.15644557C>G | CA351606864 | BTD | c.641C>G (p.Thr214Ser) c.399+2500C>G (n.399+2500C>G) c.165+2500C>G (n.165+2500C>G) c.701C>G (p.Thr234Ser) c.707C>G (p.Thr236Ser) c.419C>G (p.Thr140Ser) c.*2419C>G (n.*2419C>G) | dbSNP gnomAD v2 |
3 | g.15644557C>T | CA278439 | BTD | c.641C>T (p.Thr214Ile) c.399+2500C>T (n.399+2500C>T) c.165+2500C>T (n.165+2500C>T) c.701C>T (p.Thr234Ile) c.707C>T (p.Thr236Ile) c.419C>T (p.Thr140Ile) c.*2419C>T (n.*2419C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.15644558C>A | CA432819134 | BTD | c.642C>A (p.Thr214=) c.399+2501C>A (n.399+2501C>A) c.165+2501C>A (n.165+2501C>A) c.702C>A (p.Thr234=) c.708C>A (p.Thr236=) c.420C>A (p.Thr140=) c.*2420C>A (n.*2420C>A) | gnomAD v4 |
3 | g.15644558C>G | CA432819136 | BTD | c.642C>G (p.Thr214=) c.399+2501C>G (n.399+2501C>G) c.165+2501C>G (n.165+2501C>G) c.702C>G (p.Thr234=) c.708C>G (p.Thr236=) c.420C>G (p.Thr140=) c.*2420C>G (n.*2420C>G) | |
3 | g.15644558C>T | CA432819135 | BTD | c.642C>T (p.Thr214=) c.399+2501C>T (n.399+2501C>T) c.165+2501C>T (n.165+2501C>T) c.702C>T (p.Thr234=) c.708C>T (p.Thr236=) c.420C>T (p.Thr140=) c.*2420C>T (n.*2420C>T) | ClinVar |
3 | g.15644559C>A | CA351606866 | BTD | c.643C>A (p.Pro215Thr) c.399+2502C>A (n.399+2502C>A) c.165+2502C>A (n.165+2502C>A) c.703C>A (p.Pro235Thr) c.709C>A (p.Pro237Thr) c.421C>A (p.Pro141Thr) c.*2421C>A (n.*2421C>A) | |
3 | g.15644559C= | CA1347663992 | BTD | c.643C= (p.Pro215=) c.399+2502C= (n.399+2502C=) c.165+2502C= (n.165+2502C=) c.703C= (p.Pro235=) c.709C= (p.Pro237=) c.421C= (p.Pro141=) c.*2421C= (n.*2421C=) | |
3 | g.15644559C>G | CA351606867 | BTD | c.643C>G (p.Pro215Ala) c.399+2502C>G (n.399+2502C>G) c.165+2502C>G (n.165+2502C>G) c.703C>G (p.Pro235Ala) c.709C>G (p.Pro237Ala) c.421C>G (p.Pro141Ala) c.*2421C>G (n.*2421C>G) | |
3 | g.15644559C>T | CA351606868 | BTD | c.643C>T (p.Pro215Ser) c.399+2502C>T (n.399+2502C>T) c.165+2502C>T (n.165+2502C>T) c.703C>T (p.Pro235Ser) c.709C>T (p.Pro237Ser) c.421C>T (p.Pro141Ser) c.*2421C>T (n.*2421C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.15644560C>A | CA351606869 | BTD | c.644C>A (p.Pro215His) c.399+2503C>A (n.399+2503C>A) c.165+2503C>A (n.165+2503C>A) c.704C>A (p.Pro235His) c.710C>A (p.Pro237His) c.422C>A (p.Pro141His) c.*2422C>A (n.*2422C>A) | gnomAD v4 |
3 | g.15644560C= | CA1347663997 | BTD | c.644C= (p.Pro215=) c.399+2503C= (n.399+2503C=) c.165+2503C= (n.165+2503C=) c.704C= (p.Pro235=) c.710C= (p.Pro237=) c.422C= (p.Pro141=) c.*2422C= (n.*2422C=) | |
3 | g.15644560C>G | CA70621903 | BTD | c.644C>G (p.Pro215Arg) c.399+2503C>G (n.399+2503C>G) c.165+2503C>G (n.165+2503C>G) c.704C>G (p.Pro235Arg) c.710C>G (p.Pro237Arg) c.422C>G (p.Pro141Arg) c.*2422C>G (n.*2422C>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.15644560C>T | CA351606870 | BTD | c.644C>T (p.Pro215Leu) c.399+2503C>T (n.399+2503C>T) c.165+2503C>T (n.165+2503C>T) c.704C>T (p.Pro235Leu) c.710C>T (p.Pro237Leu) c.422C>T (p.Pro141Leu) c.*2422C>T (n.*2422C>T) | gnomAD v4 |
3 | g.15644561C>A | CA2277363 | BTD | c.645C>A (p.Pro215=) c.399+2504C>A (n.399+2504C>A) c.165+2504C>A (n.165+2504C>A) c.705C>A (p.Pro235=) c.711C>A (p.Pro237=) c.423C>A (p.Pro141=) c.*2423C>A (n.*2423C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.15644561C= | CA1347664004 | BTD | c.645C= (p.Pro215=) c.399+2504C= (n.399+2504C=) c.165+2504C= (n.165+2504C=) c.705C= (p.Pro235=) c.711C= (p.Pro237=) c.423C= (p.Pro141=) c.*2423C= (n.*2423C=) | |
3 | g.15644561C>G | CA432819144 | BTD | c.645C>G (p.Pro215=) c.399+2504C>G (n.399+2504C>G) c.165+2504C>G (n.165+2504C>G) c.705C>G (p.Pro235=) c.711C>G (p.Pro237=) c.423C>G (p.Pro141=) c.*2423C>G (n.*2423C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.15644561C>T | CA432819145 | BTD | c.645C>T (p.Pro215=) c.399+2504C>T (n.399+2504C>T) c.165+2504C>T (n.165+2504C>T) c.705C>T (p.Pro235=) c.711C>T (p.Pro237=) c.423C>T (p.Pro141=) c.*2423C>T (n.*2423C>T) | |
3 | g.15644562T>A | CA351606871 | BTD | c.646T>A (p.Phe216Ile) c.399+2505T>A (n.399+2505T>A) c.165+2505T>A (n.165+2505T>A) c.706T>A (p.Phe236Ile) c.712T>A (p.Phe238Ile) c.424T>A (p.Phe142Ile) c.*2424T>A (n.*2424T>A) | |
3 | g.15644562T>C | CA2277364 | BTD | c.646T>C (p.Phe216Leu) c.399+2505T>C (n.399+2505T>C) c.165+2505T>C (n.165+2505T>C) c.706T>C (p.Phe236Leu) c.712T>C (p.Phe238Leu) c.424T>C (p.Phe142Leu) c.*2424T>C (n.*2424T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.15644562T>G | CA351606875 | BTD | c.646T>G (p.Phe216Val) c.399+2505T>G (n.399+2505T>G) c.165+2505T>G (n.165+2505T>G) c.706T>G (p.Phe236Val) c.712T>G (p.Phe238Val) c.424T>G (p.Phe142Val) c.*2424T>G (n.*2424T>G) | gnomAD v4 |
3 | g.15644562T= | CA1347664008 | BTD | c.646T= (p.Phe216=) c.399+2505T= (n.399+2505T=) c.165+2505T= (n.165+2505T=) c.706T= (p.Phe236=) c.712T= (p.Phe238=) c.424T= (p.Phe142=) c.*2424T= (n.*2424T=) | |
3 | g.15644563T>A | CA351606878 | BTD | c.647T>A (p.Phe216Tyr) c.399+2506T>A (n.399+2506T>A) c.165+2506T>A (n.165+2506T>A) c.707T>A (p.Phe236Tyr) c.713T>A (p.Phe238Tyr) c.425T>A (p.Phe142Tyr) c.*2425T>A (n.*2425T>A) | |
3 | g.15644563T>C | CA351606880 | BTD | c.647T>C (p.Phe216Ser) c.399+2506T>C (n.399+2506T>C) c.165+2506T>C (n.165+2506T>C) c.707T>C (p.Phe236Ser) c.713T>C (p.Phe238Ser) c.425T>C (p.Phe142Ser) c.*2425T>C (n.*2425T>C) | |
3 | g.15644563T>G | CA351606881 | BTD | c.647T>G (p.Phe216Cys) c.399+2506T>G (n.399+2506T>G) c.165+2506T>G (n.165+2506T>G) c.707T>G (p.Phe236Cys) c.713T>G (p.Phe238Cys) c.425T>G (p.Phe142Cys) c.*2425T>G (n.*2425T>G) | |
3 | g.15644564T>A | CA351606886 | BTD | c.648T>A (p.Phe216Leu) c.399+2507T>A (n.399+2507T>A) c.165+2507T>A (n.165+2507T>A) c.708T>A (p.Phe236Leu) c.714T>A (p.Phe238Leu) c.426T>A (p.Phe142Leu) c.*2426T>A (n.*2426T>A) | |
3 | g.15644564T>C | CA432819148 | BTD | c.648T>C (p.Phe216=) c.399+2507T>C (n.399+2507T>C) c.165+2507T>C (n.165+2507T>C) c.708T>C (p.Phe236=) c.714T>C (p.Phe238=) c.426T>C (p.Phe142=) c.*2426T>C (n.*2426T>C) | |
3 | g.15644564T>G | CA351606884 | BTD | c.648T>G (p.Phe216Leu) c.399+2507T>G (n.399+2507T>G) c.165+2507T>G (n.165+2507T>G) c.708T>G (p.Phe236Leu) c.714T>G (p.Phe238Leu) c.426T>G (p.Phe142Leu) c.*2426T>G (n.*2426T>G) | |
3 | g.15644565G>A | CA278250 | BTD | c.649G>A (p.Ala217Thr) c.399+2508G>A (n.399+2508G>A) c.165+2508G>A (n.165+2508G>A) c.709G>A (p.Ala237Thr) c.715G>A (p.Ala239Thr) c.427G>A (p.Ala143Thr) c.*2427G>A (n.*2427G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.15644565G>C | CA351606891 | BTD | c.649G>C (p.Ala217Pro) c.399+2508G>C (n.399+2508G>C) c.165+2508G>C (n.165+2508G>C) c.709G>C (p.Ala237Pro) c.715G>C (p.Ala239Pro) c.427G>C (p.Ala143Pro) c.*2427G>C (n.*2427G>C) | |
3 | g.15644565G= | CA1347664013 | BTD | c.649G= (p.Ala217=) c.399+2508G= (n.399+2508G=) c.165+2508G= (n.165+2508G=) c.709G= (p.Ala237=) c.715G= (p.Ala239=) c.427G= (p.Ala143=) c.*2427G= (n.*2427G=) | |
3 | g.15644565G>T | CA351606889 | BTD | c.649G>T (p.Ala217Ser) c.399+2508G>T (n.399+2508G>T) c.165+2508G>T (n.165+2508G>T) c.709G>T (p.Ala237Ser) c.715G>T (p.Ala239Ser) c.427G>T (p.Ala143Ser) c.*2427G>T (n.*2427G>T) | |
3 | g.15644566C>A | CA351606893 | BTD | c.650C>A (p.Ala217Asp) c.399+2509C>A (n.399+2509C>A) c.165+2509C>A (n.165+2509C>A) c.710C>A (p.Ala237Asp) c.716C>A (p.Ala239Asp) c.428C>A (p.Ala143Asp) c.*2428C>A (n.*2428C>A) | gnomAD v4 |
3 | g.15644566C>G | CA351606897 | BTD | c.650C>G (p.Ala217Gly) c.399+2509C>G (n.399+2509C>G) c.165+2509C>G (n.165+2509C>G) c.710C>G (p.Ala237Gly) c.716C>G (p.Ala239Gly) c.428C>G (p.Ala143Gly) c.*2428C>G (n.*2428C>G) | |
3 | g.15644566C>T | CA351606895 | BTD | c.650C>T (p.Ala217Val) c.399+2509C>T (n.399+2509C>T) c.165+2509C>T (n.165+2509C>T) c.710C>T (p.Ala237Val) c.716C>T (p.Ala239Val) c.428C>T (p.Ala143Val) c.*2428C>T (n.*2428C>T) | COSMIC |
3 | g.15644567T>A | CA432819153 | BTD | c.651T>A (p.Ala217=) c.399+2510T>A (n.399+2510T>A) c.165+2510T>A (n.165+2510T>A) c.711T>A (p.Ala237=) c.717T>A (p.Ala239=) c.429T>A (p.Ala143=) c.*2429T>A (n.*2429T>A) | |
3 | g.15644567T>C | CA432819155 | BTD | c.651T>C (p.Ala217=) c.399+2510T>C (n.399+2510T>C) c.165+2510T>C (n.165+2510T>C) c.711T>C (p.Ala237=) c.717T>C (p.Ala239=) c.429T>C (p.Ala143=) c.*2429T>C (n.*2429T>C) | |
3 | g.15644567T>G | CA432819157 | BTD | c.651T>G (p.Ala217=) c.399+2510T>G (n.399+2510T>G) c.165+2510T>G (n.165+2510T>G) c.711T>G (p.Ala237=) c.717T>G (p.Ala239=) c.429T>G (p.Ala143=) c.*2429T>G (n.*2429T>G) | |
3 | g.15644568G>A | CA351606900 | BTD | c.652G>A (p.Gly218Ser) c.399+2511G>A (n.399+2511G>A) c.165+2511G>A (n.165+2511G>A) c.712G>A (p.Gly238Ser) c.718G>A (p.Gly240Ser) c.430G>A (p.Gly144Ser) c.*2430G>A (n.*2430G>A) | |
3 | g.15644568G>C | CA351606906 | BTD | c.652G>C (p.Gly218Arg) c.399+2511G>C (n.399+2511G>C) c.165+2511G>C (n.165+2511G>C) c.712G>C (p.Gly238Arg) c.718G>C (p.Gly240Arg) c.430G>C (p.Gly144Arg) c.*2430G>C (n.*2430G>C) | |
3 | g.15644568G>T | CA351606908 | BTD | c.652G>T (p.Gly218Cys) c.399+2511G>T (n.399+2511G>T) c.165+2511G>T (n.165+2511G>T) c.712G>T (p.Gly238Cys) c.718G>T (p.Gly240Cys) c.430G>T (p.Gly144Cys) c.*2430G>T (n.*2430G>T) | |
3 | g.15644569G>A | CA351606910 | BTD | c.653G>A (p.Gly218Asp) c.399+2512G>A (n.399+2512G>A) c.165+2512G>A (n.165+2512G>A) c.713G>A (p.Gly238Asp) c.719G>A (p.Gly240Asp) c.431G>A (p.Gly144Asp) c.*2431G>A (n.*2431G>A) | |
3 | g.15644569G>C | CA2277365 | BTD | c.653G>C (p.Gly218Ala) c.399+2512G>C (n.399+2512G>C) c.165+2512G>C (n.165+2512G>C) c.713G>C (p.Gly238Ala) c.719G>C (p.Gly240Ala) c.431G>C (p.Gly144Ala) c.*2431G>C (n.*2431G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.15644569G= | CA1347664021 | BTD | c.653G= (p.Gly218=) c.399+2512G= (n.399+2512G=) c.165+2512G= (n.165+2512G=) c.713G= (p.Gly238=) c.719G= (p.Gly240=) c.431G= (p.Gly144=) c.*2431G= (n.*2431G=) | |
3 | g.15644569G>T | CA351606913 | BTD | c.653G>T (p.Gly218Val) c.399+2512G>T (n.399+2512G>T) c.165+2512G>T (n.165+2512G>T) c.713G>T (p.Gly238Val) c.719G>T (p.Gly240Val) c.431G>T (p.Gly144Val) c.*2431G>T (n.*2431G>T) | |
3 | g.15644570C>A | CA432819164 | BTD | c.654C>A (p.Gly218=) c.399+2513C>A (n.399+2513C>A) c.165+2513C>A (n.165+2513C>A) c.714C>A (p.Gly238=) c.720C>A (p.Gly240=) c.432C>A (p.Gly144=) c.*2432C>A (n.*2432C>A) | |
3 | g.15644570C>G | CA432819166 | BTD | c.654C>G (p.Gly218=) c.399+2513C>G (n.399+2513C>G) c.165+2513C>G (n.165+2513C>G) c.714C>G (p.Gly238=) c.720C>G (p.Gly240=) c.432C>G (p.Gly144=) c.*2432C>G (n.*2432C>G) | |
3 | g.15644570C>T | CA432819165 | BTD | c.654C>T (p.Gly218=) c.399+2513C>T (n.399+2513C>T) c.165+2513C>T (n.165+2513C>T) c.714C>T (p.Gly238=) c.720C>T (p.Gly240=) c.432C>T (p.Gly144=) c.*2432C>T (n.*2432C>T) | |
3 | g.15644571A>C | CA432819170 | BTD | c.655A>C (p.Arg219=) c.399+2514A>C (n.399+2514A>C) c.165+2514A>C (n.165+2514A>C) c.715A>C (p.Arg239=) c.721A>C (p.Arg241=) c.433A>C (p.Arg145=) c.*2433A>C (n.*2433A>C) | |
3 | g.15644571A>G | CA351606915 | BTD | c.655A>G (p.Arg219Gly) c.399+2514A>G (n.399+2514A>G) c.165+2514A>G (n.165+2514A>G) c.715A>G (p.Arg239Gly) c.721A>G (p.Arg241Gly) c.433A>G (p.Arg145Gly) c.*2433A>G (n.*2433A>G) | gnomAD v4 |
3 | g.15644571A>T | CA351606917 | BTD | c.655A>T (p.Arg219Trp) c.399+2514A>T (n.399+2514A>T) c.165+2514A>T (n.165+2514A>T) c.715A>T (p.Arg239Trp) c.721A>T (p.Arg241Trp) c.433A>T (p.Arg145Trp) c.*2433A>T (n.*2433A>T) | |
3 | g.15644572G>A | CA351606918 | BTD | c.656G>A (p.Arg219Lys) c.399+2515G>A (n.399+2515G>A) c.165+2515G>A (n.165+2515G>A) c.716G>A (p.Arg239Lys) c.722G>A (p.Arg241Lys) c.434G>A (p.Arg145Lys) c.*2434G>A (n.*2434G>A) | |
3 | g.15644572G>C | CA351606919 | BTD | c.656G>C (p.Arg219Thr) c.399+2515G>C (n.399+2515G>C) c.165+2515G>C (n.165+2515G>C) c.716G>C (p.Arg239Thr) c.722G>C (p.Arg241Thr) c.434G>C (p.Arg145Thr) c.*2434G>C (n.*2434G>C) | |
3 | g.15644572G>T | CA351606920 | BTD | c.656G>T (p.Arg219Met) c.399+2515G>T (n.399+2515G>T) c.165+2515G>T (n.165+2515G>T) c.716G>T (p.Arg239Met) c.722G>T (p.Arg241Met) c.434G>T (p.Arg145Met) c.*2434G>T (n.*2434G>T) | |
3 | g.15644573G>A | CA432819172 | BTD | c.657G>A (p.Arg219=) c.399+2516G>A (n.399+2516G>A) c.165+2516G>A (n.165+2516G>A) c.717G>A (p.Arg239=) c.723G>A (p.Arg241=) c.435G>A (p.Arg145=) c.*2435G>A (n.*2435G>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.15644573G>C | CA351606922 | BTD | c.657G>C (p.Arg219Ser) c.399+2516G>C (n.399+2516G>C) c.165+2516G>C (n.165+2516G>C) c.717G>C (p.Arg239Ser) c.723G>C (p.Arg241Ser) c.435G>C (p.Arg145Ser) c.*2435G>C (n.*2435G>C) | |
3 | g.15644573G= | CA1347664025 | BTD | c.657G= (p.Arg219=) c.399+2516G= (n.399+2516G=) c.165+2516G= (n.165+2516G=) c.717G= (p.Arg239=) c.723G= (p.Arg241=) c.435G= (p.Arg145=) c.*2435G= (n.*2435G=) | |
3 | g.15644573G>T | CA351606921 | BTD | c.657G>T (p.Arg219Ser) c.399+2516G>T (n.399+2516G>T) c.165+2516G>T (n.165+2516G>T) c.717G>T (p.Arg239Ser) c.723G>T (p.Arg241Ser) c.435G>T (p.Arg145Ser) c.*2435G>T (n.*2435G>T) | gnomAD v4 |
3 | g.15644574T>A | CA351606925 | BTD | c.658T>A (p.Phe220Ile) c.399+2517T>A (n.399+2517T>A) c.165+2517T>A (n.165+2517T>A) c.718T>A (p.Phe240Ile) c.724T>A (p.Phe242Ile) c.436T>A (p.Phe146Ile) c.*2436T>A (n.*2436T>A) | |
3 | g.15644574T>C | CA351606926 | BTD | c.658T>C (p.Phe220Leu) c.399+2517T>C (n.399+2517T>C) c.165+2517T>C (n.165+2517T>C) c.718T>C (p.Phe240Leu) c.724T>C (p.Phe242Leu) c.436T>C (p.Phe146Leu) c.*2436T>C (n.*2436T>C) | |
3 | g.15644574T>G | CA2277366 | BTD | c.658T>G (p.Phe220Val) c.399+2517T>G (n.399+2517T>G) c.165+2517T>G (n.165+2517T>G) c.718T>G (p.Phe240Val) c.724T>G (p.Phe242Val) c.436T>G (p.Phe146Val) c.*2436T>G (n.*2436T>G) | dbSNP ExAC gnomAD v2 |
3 | g.15644574T= | CA1347664028 | BTD | c.658T= (p.Phe220=) c.399+2517T= (n.399+2517T=) c.165+2517T= (n.165+2517T=) c.718T= (p.Phe240=) c.724T= (p.Phe242=) c.436T= (p.Phe146=) c.*2436T= (n.*2436T=) | |
3 | g.15644575T>A | CA351606930 | BTD | c.659T>A (p.Phe220Tyr) c.399+2518T>A (n.399+2518T>A) c.165+2518T>A (n.165+2518T>A) c.719T>A (p.Phe240Tyr) c.725T>A (p.Phe242Tyr) c.437T>A (p.Phe146Tyr) c.*2437T>A (n.*2437T>A) | |
3 | g.15644575T>C | CA351606932 | BTD | c.659T>C (p.Phe220Ser) c.399+2518T>C (n.399+2518T>C) c.165+2518T>C (n.165+2518T>C) c.719T>C (p.Phe240Ser) c.725T>C (p.Phe242Ser) c.437T>C (p.Phe146Ser) c.*2437T>C (n.*2437T>C) | dbSNP |
3 | g.15644575T>G | CA351606934 | BTD | c.659T>G (p.Phe220Cys) c.399+2518T>G (n.399+2518T>G) c.165+2518T>G (n.165+2518T>G) c.719T>G (p.Phe240Cys) c.725T>G (p.Phe242Cys) c.437T>G (p.Phe146Cys) c.*2437T>G (n.*2437T>G) | |
3 | g.15644575T= | CA1347664032 | BTD | c.659T= (p.Phe220=) c.399+2518T= (n.399+2518T=) c.165+2518T= (n.165+2518T=) c.719T= (p.Phe240=) c.725T= (p.Phe242=) c.437T= (p.Phe146=) c.*2437T= (n.*2437T=) | |
3 | g.15644576T>A | CA351606936 | BTD | c.660T>A (p.Phe220Leu) c.399+2519T>A (n.399+2519T>A) c.165+2519T>A (n.165+2519T>A) c.720T>A (p.Phe240Leu) c.726T>A (p.Phe242Leu) c.438T>A (p.Phe146Leu) c.*2438T>A (n.*2438T>A) | |
3 | g.15644576T>C | CA432819181 | BTD | c.660T>C (p.Phe220=) c.399+2519T>C (n.399+2519T>C) c.165+2519T>C (n.165+2519T>C) c.720T>C (p.Phe240=) c.726T>C (p.Phe242=) c.438T>C (p.Phe146=) c.*2438T>C (n.*2438T>C) | |
3 | g.15644576T>G | CA351606938 | BTD | c.660T>G (p.Phe220Leu) c.399+2519T>G (n.399+2519T>G) c.165+2519T>G (n.165+2519T>G) c.720T>G (p.Phe240Leu) c.726T>G (p.Phe242Leu) c.438T>G (p.Phe146Leu) c.*2438T>G (n.*2438T>G) | |
3 | g.15644577G>A | CA351606940 | BTD | c.661G>A (p.Gly221Ser) c.399+2520G>A (n.399+2520G>A) c.165+2520G>A (n.165+2520G>A) c.721G>A (p.Gly241Ser) c.727G>A (p.Gly243Ser) c.439G>A (p.Gly147Ser) c.*2439G>A (n.*2439G>A) | |
3 | g.15644577G>C | CA351606942 | BTD | c.661G>C (p.Gly221Arg) c.399+2520G>C (n.399+2520G>C) c.165+2520G>C (n.165+2520G>C) c.721G>C (p.Gly241Arg) c.727G>C (p.Gly243Arg) c.439G>C (p.Gly147Arg) c.*2439G>C (n.*2439G>C) | |
3 | g.15644577G>T | CA351606944 | BTD | c.661G>T (p.Gly221Cys) c.399+2520G>T (n.399+2520G>T) c.165+2520G>T (n.165+2520G>T) c.721G>T (p.Gly241Cys) c.727G>T (p.Gly243Cys) c.439G>T (p.Gly147Cys) c.*2439G>T (n.*2439G>T) | |
3 | g.15644578G>A | CA351606950 | BTD | c.662G>A (p.Gly221Asp) c.399+2521G>A (n.399+2521G>A) c.165+2521G>A (n.165+2521G>A) c.722G>A (p.Gly241Asp) c.728G>A (p.Gly243Asp) c.440G>A (p.Gly147Asp) c.*2440G>A (n.*2440G>A) | ClinVar dbSNP |
3 | g.15644578G>C | CA351606948 | BTD | c.662G>C (p.Gly221Ala) c.399+2521G>C (n.399+2521G>C) c.165+2521G>C (n.165+2521G>C) c.722G>C (p.Gly241Ala) c.728G>C (p.Gly243Ala) c.440G>C (p.Gly147Ala) c.*2440G>C (n.*2440G>C) | |
3 | g.15644578G= | CA1347664033 | BTD | c.662G= (p.Gly221=) c.399+2521G= (n.399+2521G=) c.165+2521G= (n.165+2521G=) c.722G= (p.Gly241=) c.728G= (p.Gly243=) c.440G= (p.Gly147=) c.*2440G= (n.*2440G=) | |
3 | g.15644578G>T | CA351606946 | BTD | c.662G>T (p.Gly221Val) c.399+2521G>T (n.399+2521G>T) c.165+2521G>T (n.165+2521G>T) c.722G>T (p.Gly241Val) c.728G>T (p.Gly243Val) c.440G>T (p.Gly147Val) c.*2440G>T (n.*2440G>T) | |
3 | g.15644579C>A | CA432819192 | BTD | c.663C>A (p.Gly221=) c.399+2522C>A (n.399+2522C>A) c.165+2522C>A (n.165+2522C>A) c.723C>A (p.Gly241=) c.729C>A (p.Gly243=) c.441C>A (p.Gly147=) c.*2441C>A (n.*2441C>A) | |
3 | g.15644579C>G | CA432819190 | BTD | c.663C>G (p.Gly221=) c.399+2522C>G (n.399+2522C>G) c.165+2522C>G (n.165+2522C>G) c.723C>G (p.Gly241=) c.729C>G (p.Gly243=) c.441C>G (p.Gly147=) c.*2441C>G (n.*2441C>G) | |
3 | g.15644579C>T | CA432819187 | BTD | c.663C>T (p.Gly221=) c.399+2522C>T (n.399+2522C>T) c.165+2522C>T (n.165+2522C>T) c.723C>T (p.Gly241=) c.729C>T (p.Gly243=) c.441C>T (p.Gly147=) c.*2441C>T (n.*2441C>T) | |
3 | g.15644580A= | CA1347664035 | BTD | c.664A= (p.Ile222=) c.399+2523A= (n.399+2523A=) c.165+2523A= (n.165+2523A=) c.724A= (p.Ile242=) c.730A= (p.Ile244=) c.442A= (p.Ile148=) c.*2442A= (n.*2442A=) | |
3 | g.15644580A>C | CA351606951 | BTD | c.664A>C (p.Ile222Leu) c.399+2523A>C (n.399+2523A>C) c.165+2523A>C (n.165+2523A>C) c.724A>C (p.Ile242Leu) c.730A>C (p.Ile244Leu) c.442A>C (p.Ile148Leu) c.*2442A>C (n.*2442A>C) | |
3 | g.15644580A>G | CA2277367 | BTD | c.664A>G (p.Ile222Val) c.399+2523A>G (n.399+2523A>G) c.165+2523A>G (n.165+2523A>G) c.724A>G (p.Ile242Val) c.730A>G (p.Ile244Val) c.442A>G (p.Ile148Val) c.*2442A>G (n.*2442A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.15644580A>T | CA351606954 | BTD | c.664A>T (p.Ile222Phe) c.399+2523A>T (n.399+2523A>T) c.165+2523A>T (n.165+2523A>T) c.724A>T (p.Ile242Phe) c.730A>T (p.Ile244Phe) c.442A>T (p.Ile148Phe) c.*2442A>T (n.*2442A>T) | |
3 | g.15644581T>A | CA351606955 | BTD | c.665T>A (p.Ile222Asn) c.399+2524T>A (n.399+2524T>A) c.165+2524T>A (n.165+2524T>A) c.725T>A (p.Ile242Asn) c.731T>A (p.Ile244Asn) c.443T>A (p.Ile148Asn) c.*2443T>A (n.*2443T>A) | |
3 | g.15644581T>C | CA351606957 | BTD | c.665T>C (p.Ile222Thr) c.399+2524T>C (n.399+2524T>C) c.165+2524T>C (n.165+2524T>C) c.725T>C (p.Ile242Thr) c.731T>C (p.Ile244Thr) c.443T>C (p.Ile148Thr) c.*2443T>C (n.*2443T>C) | gnomAD v4 |
3 | g.15644581T>G | CA351606959 | BTD | c.665T>G (p.Ile222Ser) c.399+2524T>G (n.399+2524T>G) c.165+2524T>G (n.165+2524T>G) c.725T>G (p.Ile242Ser) c.731T>G (p.Ile244Ser) c.443T>G (p.Ile148Ser) c.*2443T>G (n.*2443T>G) | |
3 | g.15644582C>A | CA432819197 | BTD | c.666C>A (p.Ile222=) c.399+2525C>A (n.399+2525C>A) c.165+2525C>A (n.165+2525C>A) c.726C>A (p.Ile242=) c.732C>A (p.Ile244=) c.444C>A (p.Ile148=) c.*2444C>A (n.*2444C>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.15644582C= | CA1347664036 | BTD | c.666C= (p.Ile222=) c.399+2525C= (n.399+2525C=) c.165+2525C= (n.165+2525C=) c.726C= (p.Ile242=) c.732C= (p.Ile244=) c.444C= (p.Ile148=) c.*2444C= (n.*2444C=) | |
3 | g.15644582C>G | CA351606961 | BTD | c.666C>G (p.Ile222Met) c.399+2525C>G (n.399+2525C>G) c.165+2525C>G (n.165+2525C>G) c.726C>G (p.Ile242Met) c.732C>G (p.Ile244Met) c.444C>G (p.Ile148Met) c.*2444C>G (n.*2444C>G) | |
3 | g.15644582C>T | CA432819198 | BTD | c.666C>T (p.Ile222=) c.399+2525C>T (n.399+2525C>T) c.165+2525C>T (n.165+2525C>T) c.726C>T (p.Ile242=) c.732C>T (p.Ile244=) c.444C>T (p.Ile148=) c.*2444C>T (n.*2444C>T) | |
3 | g.15644583T>A | CA351606964 | BTD | c.667T>A (p.Phe223Ile) c.399+2526T>A (n.399+2526T>A) c.165+2526T>A (n.165+2526T>A) c.727T>A (p.Phe243Ile) c.733T>A (p.Phe245Ile) c.445T>A (p.Phe149Ile) c.*2445T>A (n.*2445T>A) | |
3 | g.15644583T>C | CA351606965 | BTD | c.667T>C (p.Phe223Leu) c.399+2526T>C (n.399+2526T>C) c.165+2526T>C (n.165+2526T>C) c.727T>C (p.Phe243Leu) c.733T>C (p.Phe245Leu) c.445T>C (p.Phe149Leu) c.*2445T>C (n.*2445T>C) | |
3 | g.15644583T>G | CA351606966 | BTD | c.667T>G (p.Phe223Val) c.399+2526T>G (n.399+2526T>G) c.165+2526T>G (n.165+2526T>G) c.727T>G (p.Phe243Val) c.733T>G (p.Phe245Val) c.445T>G (p.Phe149Val) c.*2445T>G (n.*2445T>G) | |
3 | g.15644584T>A | CA351606967 | BTD | c.668T>A (p.Phe223Tyr) c.399+2527T>A (n.399+2527T>A) c.165+2527T>A (n.165+2527T>A) c.728T>A (p.Phe243Tyr) c.734T>A (p.Phe245Tyr) c.446T>A (p.Phe149Tyr) c.*2446T>A (n.*2446T>A) | |
3 | g.15644584T>C | CA351606968 | BTD | c.668T>C (p.Phe223Ser) c.399+2527T>C (n.399+2527T>C) c.165+2527T>C (n.165+2527T>C) c.728T>C (p.Phe243Ser) c.734T>C (p.Phe245Ser) c.446T>C (p.Phe149Ser) c.*2446T>C (n.*2446T>C) | |
3 | g.15644584T>G | CA351606970 | BTD | c.668T>G (p.Phe223Cys) c.399+2527T>G (n.399+2527T>G) c.165+2527T>G (n.165+2527T>G) c.728T>G (p.Phe243Cys) c.734T>G (p.Phe245Cys) c.446T>G (p.Phe149Cys) c.*2446T>G (n.*2446T>G) | |
3 | g.15644585C>A | CA351606971 | BTD | c.669C>A (p.Phe223Leu) c.399+2528C>A (n.399+2528C>A) c.165+2528C>A (n.165+2528C>A) c.729C>A (p.Phe243Leu) c.735C>A (p.Phe245Leu) c.447C>A (p.Phe149Leu) c.*2447C>A (n.*2447C>A) | |
3 | g.15644585C= | CA1347664039 | BTD | c.669C= (p.Phe223=) c.399+2528C= (n.399+2528C=) c.165+2528C= (n.165+2528C=) c.729C= (p.Phe243=) c.735C= (p.Phe245=) c.447C= (p.Phe149=) c.*2447C= (n.*2447C=) | |
3 | g.15644585C>G | CA351606973 | BTD | c.669C>G (p.Phe223Leu) c.399+2528C>G (n.399+2528C>G) c.165+2528C>G (n.165+2528C>G) c.729C>G (p.Phe243Leu) c.735C>G (p.Phe245Leu) c.447C>G (p.Phe149Leu) c.*2447C>G (n.*2447C>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.15644585C>T | CA2277368 | BTD | c.669C>T (p.Phe223=) c.399+2528C>T (n.399+2528C>T) c.165+2528C>T (n.165+2528C>T) c.729C>T (p.Phe243=) c.735C>T (p.Phe245=) c.447C>T (p.Phe149=) c.*2447C>T (n.*2447C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.15644586A>C | CA351606979 | BTD | c.670A>C (p.Thr224Pro) c.399+2529A>C (n.399+2529A>C) c.165+2529A>C (n.165+2529A>C) c.730A>C (p.Thr244Pro) c.736A>C (p.Thr246Pro) c.448A>C (p.Thr150Pro) c.*2448A>C (n.*2448A>C) | |
3 | g.15644586A>G | CA351606981 | BTD | c.670A>G (p.Thr224Ala) c.399+2529A>G (n.399+2529A>G) c.165+2529A>G (n.165+2529A>G) c.730A>G (p.Thr244Ala) c.736A>G (p.Thr246Ala) c.448A>G (p.Thr150Ala) c.*2448A>G (n.*2448A>G) | |
3 | g.15644586A>T | CA351606983 | BTD | c.670A>T (p.Thr224Ser) c.399+2529A>T (n.399+2529A>T) c.165+2529A>T (n.165+2529A>T) c.730A>T (p.Thr244Ser) c.736A>T (p.Thr246Ser) c.448A>T (p.Thr150Ser) c.*2448A>T (n.*2448A>T) | |
3 | g.15644587C>A | CA351606985 | BTD | c.671C>A (p.Thr224Lys) c.399+2530C>A (n.399+2530C>A) c.165+2530C>A (n.165+2530C>A) c.731C>A (p.Thr244Lys) c.737C>A (p.Thr246Lys) c.449C>A (p.Thr150Lys) c.*2449C>A (n.*2449C>A) | |
3 | g.15644587C>G | CA351606987 | BTD | c.671C>G (p.Thr224Arg) c.399+2530C>G (n.399+2530C>G) c.165+2530C>G (n.165+2530C>G) c.731C>G (p.Thr244Arg) c.737C>G (p.Thr246Arg) c.449C>G (p.Thr150Arg) c.*2449C>G (n.*2449C>G) | |
3 | g.15644587C>T | CA351606988 | BTD | c.671C>T (p.Thr224Ile) c.399+2530C>T (n.399+2530C>T) c.165+2530C>T (n.165+2530C>T) c.731C>T (p.Thr244Ile) c.737C>T (p.Thr246Ile) c.449C>T (p.Thr150Ile) c.*2449C>T (n.*2449C>T) | ClinVar |
3 | g.15644588A= | CA1347664042 | BTD | c.672A= (p.Thr224=) c.399+2531A= (n.399+2531A=) c.165+2531A= (n.165+2531A=) c.732A= (p.Thr244=) c.738A= (p.Thr246=) c.450A= (p.Thr150=) c.*2450A= (n.*2450A=) | |
3 | g.15644588A>C | CA432819212 | BTD | c.672A>C (p.Thr224=) c.399+2531A>C (n.399+2531A>C) c.165+2531A>C (n.165+2531A>C) c.732A>C (p.Thr244=) c.738A>C (p.Thr246=) c.450A>C (p.Thr150=) c.*2450A>C (n.*2450A>C) | |
3 | g.15644588A>G | CA70622007 | BTD | c.672A>G (p.Thr224=) c.399+2531A>G (n.399+2531A>G) c.165+2531A>G (n.165+2531A>G) c.732A>G (p.Thr244=) c.738A>G (p.Thr246=) c.450A>G (p.Thr150=) c.*2450A>G (n.*2450A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.15644588A>T | CA70622009 | BTD | c.672A>T (p.Thr224=) c.399+2531A>T (n.399+2531A>T) c.165+2531A>T (n.165+2531A>T) c.732A>T (p.Thr244=) c.738A>T (p.Thr246=) c.450A>T (p.Thr150=) c.*2450A>T (n.*2450A>T) | dbSNP |
3 | g.15644589T>A | CA351606992 | BTD | c.673T>A (p.Cys225Ser) c.399+2532T>A (n.399+2532T>A) c.165+2532T>A (n.165+2532T>A) c.733T>A (p.Cys245Ser) c.739T>A (p.Cys247Ser) c.451T>A (p.Cys151Ser) c.*2451T>A (n.*2451T>A) | |
3 | g.15644589T>C | CA351606994 | BTD | c.673T>C (p.Cys225Arg) c.399+2532T>C (n.399+2532T>C) c.165+2532T>C (n.165+2532T>C) c.733T>C (p.Cys245Arg) c.739T>C (p.Cys247Arg) c.451T>C (p.Cys151Arg) c.*2451T>C (n.*2451T>C) | |
3 | g.15644589T>G | CA351606996 | BTD | c.673T>G (p.Cys225Gly) c.399+2532T>G (n.399+2532T>G) c.165+2532T>G (n.165+2532T>G) c.733T>G (p.Cys245Gly) c.739T>G (p.Cys247Gly) c.451T>G (p.Cys151Gly) c.*2451T>G (n.*2451T>G) | |
3 | g.15644590G>A | CA278252 | BTD | c.674G>A (p.Cys225Tyr) c.399+2533G>A (n.399+2533G>A) c.165+2533G>A (n.165+2533G>A) c.734G>A (p.Cys245Tyr) c.740G>A (p.Cys247Tyr) c.452G>A (p.Cys151Tyr) c.*2452G>A (n.*2452G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.15644590G>C | CA351607000 | BTD | c.674G>C (p.Cys225Ser) c.399+2533G>C (n.399+2533G>C) c.165+2533G>C (n.165+2533G>C) c.734G>C (p.Cys245Ser) c.740G>C (p.Cys247Ser) c.452G>C (p.Cys151Ser) c.*2452G>C (n.*2452G>C) | |
3 | g.15644590G= | CA1347664049 | BTD | c.674G= (p.Cys225=) c.399+2533G= (n.399+2533G=) c.165+2533G= (n.165+2533G=) c.734G= (p.Cys245=) c.740G= (p.Cys247=) c.452G= (p.Cys151=) c.*2452G= (n.*2452G=) | |
3 | g.15644590G>T | CA351606998 | BTD | c.674G>T (p.Cys225Phe) c.399+2533G>T (n.399+2533G>T) c.165+2533G>T (n.165+2533G>T) c.734G>T (p.Cys245Phe) c.740G>T (p.Cys247Phe) c.452G>T (p.Cys151Phe) c.*2452G>T (n.*2452G>T) | |
3 | g.15644591C>A | CA351607003 | BTD | c.675C>A (p.Cys225Ter) c.399+2534C>A (n.399+2534C>A) c.165+2534C>A (n.165+2534C>A) c.735C>A (p.Cys245Ter) c.741C>A (p.Cys247Ter) c.453C>A (p.Cys151Ter) c.*2453C>A (n.*2453C>A) | ClinVar |
3 | g.15644591C= | CA1347664051 | BTD | c.675C= (p.Cys225=) c.399+2534C= (n.399+2534C=) c.165+2534C= (n.165+2534C=) c.735C= (p.Cys245=) c.741C= (p.Cys247=) c.453C= (p.Cys151=) c.*2453C= (n.*2453C=) | |
3 | g.15644591C>G | CA2277369 | BTD | c.675C>G (p.Cys225Trp) c.399+2534C>G (n.399+2534C>G) c.165+2534C>G (n.165+2534C>G) c.735C>G (p.Cys245Trp) c.741C>G (p.Cys247Trp) c.453C>G (p.Cys151Trp) c.*2453C>G (n.*2453C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.15644591C>T | CA432819224 | BTD | c.675C>T (p.Cys225=) c.399+2534C>T (n.399+2534C>T) c.165+2534C>T (n.165+2534C>T) c.735C>T (p.Cys245=) c.741C>T (p.Cys247=) c.453C>T (p.Cys151=) c.*2453C>T (n.*2453C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.15644592T>A | CA351607005 | BTD | c.676T>A (p.Phe226Ile) c.399+2535T>A (n.399+2535T>A) c.165+2535T>A (n.165+2535T>A) c.736T>A (p.Phe246Ile) c.742T>A (p.Phe248Ile) c.454T>A (p.Phe152Ile) c.*2454T>A (n.*2454T>A) | |
3 | g.15644592T>C | CA351607007 | BTD | c.676T>C (p.Phe226Leu) c.399+2535T>C (n.399+2535T>C) c.165+2535T>C (n.165+2535T>C) c.736T>C (p.Phe246Leu) c.742T>C (p.Phe248Leu) c.454T>C (p.Phe152Leu) c.*2454T>C (n.*2454T>C) | |
3 | g.15644592T>G | CA351607009 | BTD | c.676T>G (p.Phe226Val) c.399+2535T>G (n.399+2535T>G) c.165+2535T>G (n.165+2535T>G) c.736T>G (p.Phe246Val) c.742T>G (p.Phe248Val) c.454T>G (p.Phe152Val) c.*2454T>G (n.*2454T>G) | |
3 | g.15644593T>A | CA351607011 | BTD | c.677T>A (p.Phe226Tyr) c.399+2536T>A (n.399+2536T>A) c.165+2536T>A (n.165+2536T>A) c.737T>A (p.Phe246Tyr) c.743T>A (p.Phe248Tyr) c.455T>A (p.Phe152Tyr) c.*2455T>A (n.*2455T>A) | |
3 | g.15644593T>C | CA351607013 | BTD | c.677T>C (p.Phe226Ser) c.399+2536T>C (n.399+2536T>C) c.165+2536T>C (n.165+2536T>C) c.737T>C (p.Phe246Ser) c.743T>C (p.Phe248Ser) c.455T>C (p.Phe152Ser) c.*2455T>C (n.*2455T>C) | |
3 | g.15644593T>G | CA351607015 | BTD | c.677T>G (p.Phe226Cys) c.399+2536T>G (n.399+2536T>G) c.165+2536T>G (n.165+2536T>G) c.737T>G (p.Phe246Cys) c.743T>G (p.Phe248Cys) c.455T>G (p.Phe152Cys) c.*2455T>G (n.*2455T>G) | |
3 | g.15644594T>A | CA351607017 | BTD | c.678T>A (p.Phe226Leu) c.399+2537T>A (n.399+2537T>A) c.165+2537T>A (n.165+2537T>A) c.738T>A (p.Phe246Leu) c.744T>A (p.Phe248Leu) c.456T>A (p.Phe152Leu) c.*2456T>A (n.*2456T>A) | |
3 | g.15644594T>C | CA2277370 | BTD | c.678T>C (p.Phe226=) c.399+2537T>C (n.399+2537T>C) c.165+2537T>C (n.165+2537T>C) c.738T>C (p.Phe246=) c.744T>C (p.Phe248=) c.456T>C (p.Phe152=) c.*2456T>C (n.*2456T>C) | dbSNP ExAC gnomAD v2 |
3 | g.15644594T>G | CA351607019 | BTD | c.678T>G (p.Phe226Leu) c.399+2537T>G (n.399+2537T>G) c.165+2537T>G (n.165+2537T>G) c.738T>G (p.Phe246Leu) c.744T>G (p.Phe248Leu) c.456T>G (p.Phe152Leu) c.*2456T>G (n.*2456T>G) | |
3 | g.15644594T= | CA1347664053 | BTD | c.678T= (p.Phe226=) c.399+2537T= (n.399+2537T=) c.165+2537T= (n.165+2537T=) c.738T= (p.Phe246=) c.744T= (p.Phe248=) c.456T= (p.Phe152=) c.*2456T= (n.*2456T=) | |
3 | g.15644595G>A | CA351607022 | BTD | c.679G>A (p.Asp227Asn) c.399+2538G>A (n.399+2538G>A) c.165+2538G>A (n.165+2538G>A) c.739G>A (p.Asp247Asn) c.745G>A (p.Asp249Asn) c.457G>A (p.Asp153Asn) c.*2457G>A (n.*2457G>A) | |
3 | g.15644595G>C | CA351607024 | BTD | c.679G>C (p.Asp227His) c.399+2538G>C (n.399+2538G>C) c.165+2538G>C (n.165+2538G>C) c.739G>C (p.Asp247His) c.745G>C (p.Asp249His) c.457G>C (p.Asp153His) c.*2457G>C (n.*2457G>C) | |
3 | g.15644595G>T | CA351607026 | BTD | c.679G>T (p.Asp227Tyr) c.399+2538G>T (n.399+2538G>T) c.165+2538G>T (n.165+2538G>T) c.739G>T (p.Asp247Tyr) c.745G>T (p.Asp249Tyr) c.457G>T (p.Asp153Tyr) c.*2457G>T (n.*2457G>T) | |
3 | g.15644596A>C | CA351607029 | BTD | c.680A>C (p.Asp227Ala) c.399+2539A>C (n.399+2539A>C) c.165+2539A>C (n.165+2539A>C) c.740A>C (p.Asp247Ala) c.746A>C (p.Asp249Ala) c.458A>C (p.Asp153Ala) c.*2458A>C (n.*2458A>C) | |
3 | g.15644596A>G | CA351607033 | BTD | c.680A>G (p.Asp227Gly) c.399+2539A>G (n.399+2539A>G) c.165+2539A>G (n.165+2539A>G) c.740A>G (p.Asp247Gly) c.746A>G (p.Asp249Gly) c.458A>G (p.Asp153Gly) c.*2458A>G (n.*2458A>G) | |
3 | g.15644596A>T | CA351607031 | BTD | c.680A>T (p.Asp227Val) c.399+2539A>T (n.399+2539A>T) c.165+2539A>T (n.165+2539A>T) c.740A>T (p.Asp247Val) c.746A>T (p.Asp249Val) c.458A>T (p.Asp153Val) c.*2458A>T (n.*2458A>T) | |
3 | g.15644597T>A | CA351607035 | BTD | c.681T>A (p.Asp227Glu) c.399+2540T>A (n.399+2540T>A) c.165+2540T>A (n.165+2540T>A) c.741T>A (p.Asp247Glu) c.747T>A (p.Asp249Glu) c.459T>A (p.Asp153Glu) c.*2459T>A (n.*2459T>A) | |
3 | g.15644597T>C | CA432819241 | BTD | c.681T>C (p.Asp227=) c.399+2540T>C (n.399+2540T>C) c.165+2540T>C (n.165+2540T>C) c.741T>C (p.Asp247=) c.747T>C (p.Asp249=) c.459T>C (p.Asp153=) c.*2459T>C (n.*2459T>C) | |
3 | g.15644597T>G | CA351607037 | BTD | c.681T>G (p.Asp227Glu) c.399+2540T>G (n.399+2540T>G) c.165+2540T>G (n.165+2540T>G) c.741T>G (p.Asp247Glu) c.747T>G (p.Asp249Glu) c.459T>G (p.Asp153Glu) c.*2459T>G (n.*2459T>G) | |
3 | g.15644598A= | CA1347664058 | BTD | c.682A= (p.Ile228=) c.399+2541A= (n.399+2541A=) c.165+2541A= (n.165+2541A=) c.742A= (p.Ile248=) c.748A= (p.Ile250=) c.460A= (p.Ile154=) c.*2460A= (n.*2460A=) | |
3 | g.15644598A>C | CA351607039 | BTD | c.682A>C (p.Ile228Leu) c.399+2541A>C (n.399+2541A>C) c.165+2541A>C (n.165+2541A>C) c.742A>C (p.Ile248Leu) c.748A>C (p.Ile250Leu) c.460A>C (p.Ile154Leu) c.*2460A>C (n.*2460A>C) | ClinVar dbSNP |
3 | g.15644598A>G | CA220333 | BTD | c.682A>G (p.Ile228Val) c.399+2541A>G (n.399+2541A>G) c.165+2541A>G (n.165+2541A>G) c.742A>G (p.Ile248Val) c.748A>G (p.Ile250Val) c.460A>G (p.Ile154Val) c.*2460A>G (n.*2460A>G) | ClinVar dbSNP gnomAD v4 |
3 | g.15644598A>T | CA351607042 | BTD | c.682A>T (p.Ile228Leu) c.399+2541A>T (n.399+2541A>T) c.165+2541A>T (n.165+2541A>T) c.742A>T (p.Ile248Leu) c.748A>T (p.Ile250Leu) c.460A>T (p.Ile154Leu) c.*2460A>T (n.*2460A>T) | |
3 | g.15644599T>A | CA351607043 | BTD | c.683T>A (p.Ile228Lys) c.399+2542T>A (n.399+2542T>A) c.165+2542T>A (n.165+2542T>A) c.743T>A (p.Ile248Lys) c.749T>A (p.Ile250Lys) c.461T>A (p.Ile154Lys) c.*2461T>A (n.*2461T>A) | |
3 | g.15644599T>C | CA278254 | BTD | c.683T>C (p.Ile228Thr) c.399+2542T>C (n.399+2542T>C) c.165+2542T>C (n.165+2542T>C) c.743T>C (p.Ile248Thr) c.749T>C (p.Ile250Thr) c.461T>C (p.Ile154Thr) c.*2461T>C (n.*2461T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.15644599T>G | CA351607046 | BTD | c.683T>G (p.Ile228Arg) c.399+2542T>G (n.399+2542T>G) c.165+2542T>G (n.165+2542T>G) c.743T>G (p.Ile248Arg) c.749T>G (p.Ile250Arg) c.461T>G (p.Ile154Arg) c.*2461T>G (n.*2461T>G) | |
3 | g.15644599T= | CA1347664066 | BTD | c.683T= (p.Ile228=) c.399+2542T= (n.399+2542T=) c.165+2542T= (n.165+2542T=) c.743T= (p.Ile248=) c.749T= (p.Ile250=) c.461T= (p.Ile154=) c.*2461T= (n.*2461T=) | |
3 | g.15644599dup | CA2831039756 | BTD | c.683dup (p.Leu229IlefsTer4) c.399+2542dup (n.399+2542dup) c.165+2542dup (n.165+2542dup) c.743dup (p.Leu249IlefsTer4) c.749dup (p.Leu251IlefsTer4) c.461dup (p.Leu155IlefsTer4) c.*2461dup (n.*2461dup) | |
3 | g.15644600_15644604del | CA2664667150 | BTD | c.684_688del (p.Phe230Ter) c.399+2543_399+2547del (n.399+2543_399+2547del) c.165+2543_165+2547del (n.165+2543_165+2547del) c.744_748del (p.Phe250Ter) c.750_754del (p.Phe252Ter) c.462_466del (p.Phe156Ter) c.*2462_*2466del (n.*2462_*2466del) | gnomAD v4 |
3 | g.15644600A= | CA1347664070 | BTD | c.684A= (p.Ile228=) c.399+2543A= (n.399+2543A=) c.165+2543A= (n.165+2543A=) c.744A= (p.Ile248=) c.750A= (p.Ile250=) c.462A= (p.Ile154=) c.*2462A= (n.*2462A=) | |
3 | g.15644600A>C | CA432819252 | BTD | c.684A>C (p.Ile228=) c.399+2543A>C (n.399+2543A>C) c.165+2543A>C (n.165+2543A>C) c.744A>C (p.Ile248=) c.750A>C (p.Ile250=) c.462A>C (p.Ile154=) c.*2462A>C (n.*2462A>C) | |
3 | g.15644600A>G | CA351607048 | BTD | c.684A>G (p.Ile228Met) c.399+2543A>G (n.399+2543A>G) c.165+2543A>G (n.165+2543A>G) c.744A>G (p.Ile248Met) c.750A>G (p.Ile250Met) c.462A>G (p.Ile154Met) c.*2462A>G (n.*2462A>G) | ClinVar dbSNP |
3 | g.15644600A>T | CA432819253 | BTD | c.684A>T (p.Ile228=) c.399+2543A>T (n.399+2543A>T) c.165+2543A>T (n.165+2543A>T) c.744A>T (p.Ile248=) c.750A>T (p.Ile250=) c.462A>T (p.Ile154=) c.*2462A>T (n.*2462A>T) | |
3 | g.15644601T>A | CA351607050 | BTD | c.685T>A (p.Leu229Met) c.399+2544T>A (n.399+2544T>A) c.165+2544T>A (n.165+2544T>A) c.745T>A (p.Leu249Met) c.751T>A (p.Leu251Met) c.463T>A (p.Leu155Met) c.*2463T>A (n.*2463T>A) | |
3 | g.15644601T>C | CA432819255 | BTD | c.685T>C (p.Leu229=) c.399+2544T>C (n.399+2544T>C) c.165+2544T>C (n.165+2544T>C) c.745T>C (p.Leu249=) c.751T>C (p.Leu251=) c.463T>C (p.Leu155=) c.*2463T>C (n.*2463T>C) | |
3 | g.15644601T>G | CA351607052 | BTD | c.685T>G (p.Leu229Val) c.399+2544T>G (n.399+2544T>G) c.165+2544T>G (n.165+2544T>G) c.745T>G (p.Leu249Val) c.751T>G (p.Leu251Val) c.463T>G (p.Leu155Val) c.*2463T>G (n.*2463T>G) | |
3 | g.15644602del | CA2580068522 | BTD | c.686del (p.Leu229CysfsTer15) c.399+2545del (n.399+2545del) c.165+2545del (n.165+2545del) c.746del (p.Leu249CysfsTer15) c.752del (p.Leu251CysfsTer15) c.464del (p.Leu155CysfsTer15) c.*2464del (n.*2464del) | ClinVar |
3 | g.15644602T>A | CA351607057 | BTD | c.686T>A (p.Leu229Ter) c.399+2545T>A (n.399+2545T>A) c.165+2545T>A (n.165+2545T>A) c.746T>A (p.Leu249Ter) c.752T>A (p.Leu251Ter) c.464T>A (p.Leu155Ter) c.*2464T>A (n.*2464T>A) | |
3 | g.15644602T>C | CA351607059 | BTD | c.686T>C (p.Leu229Ser) c.399+2545T>C (n.399+2545T>C) c.165+2545T>C (n.165+2545T>C) c.746T>C (p.Leu249Ser) c.752T>C (p.Leu251Ser) c.464T>C (p.Leu155Ser) c.*2464T>C (n.*2464T>C) | dbSNP |
3 | g.15644602T>G | CA351607055 | BTD | c.686T>G (p.Leu229Trp) c.399+2545T>G (n.399+2545T>G) c.165+2545T>G (n.165+2545T>G) c.746T>G (p.Leu249Trp) c.752T>G (p.Leu251Trp) c.464T>G (p.Leu155Trp) c.*2464T>G (n.*2464T>G) | |
3 | g.15644602T= | CA1347664073 | BTD | c.686T= (p.Leu229=) c.399+2545T= (n.399+2545T=) c.165+2545T= (n.165+2545T=) c.746T= (p.Leu249=) c.752T= (p.Leu251=) c.464T= (p.Leu155=) c.*2464T= (n.*2464T=) | |
3 | g.15644603G>A | CA432819257 | BTD | c.687G>A (p.Leu229=) c.399+2546G>A (n.399+2546G>A) c.165+2546G>A (n.165+2546G>A) c.747G>A (p.Leu249=) c.753G>A (p.Leu251=) c.465G>A (p.Leu155=) c.*2465G>A (n.*2465G>A) | ClinVar dbSNP gnomAD v4 |
3 | g.15644603G>C | CA351607061 | BTD | c.687G>C (p.Leu229Phe) c.399+2546G>C (n.399+2546G>C) c.165+2546G>C (n.165+2546G>C) c.747G>C (p.Leu249Phe) c.753G>C (p.Leu251Phe) c.465G>C (p.Leu155Phe) c.*2465G>C (n.*2465G>C) | |
3 | g.15644603G>T | CA351607063 | BTD | c.687G>T (p.Leu229Phe) c.399+2546G>T (n.399+2546G>T) c.165+2546G>T (n.165+2546G>T) c.747G>T (p.Leu249Phe) c.753G>T (p.Leu251Phe) c.465G>T (p.Leu155Phe) c.*2465G>T (n.*2465G>T) | |
3 | g.15644604T>A | CA351607066 | BTD | c.688T>A (p.Phe230Ile) c.399+2547T>A (n.399+2547T>A) c.165+2547T>A (n.165+2547T>A) c.748T>A (p.Phe250Ile) c.754T>A (p.Phe252Ile) c.466T>A (p.Phe156Ile) c.*2466T>A (n.*2466T>A) | |
3 | g.15644604T>C | CA351607067 | BTD | c.688T>C (p.Phe230Leu) c.399+2547T>C (n.399+2547T>C) c.165+2547T>C (n.165+2547T>C) c.748T>C (p.Phe250Leu) c.754T>C (p.Phe252Leu) c.466T>C (p.Phe156Leu) c.*2466T>C (n.*2466T>C) | |
3 | g.15644604T>G | CA351607069 | BTD | c.688T>G (p.Phe230Val) c.399+2547T>G (n.399+2547T>G) c.165+2547T>G (n.165+2547T>G) c.748T>G (p.Phe250Val) c.754T>G (p.Phe252Val) c.466T>G (p.Phe156Val) c.*2466T>G (n.*2466T>G) | |
3 | g.15644605T>A | CA2277371 | BTD | c.689T>A (p.Phe230Tyr) c.399+2548T>A (n.399+2548T>A) c.165+2548T>A (n.165+2548T>A) c.749T>A (p.Phe250Tyr) c.755T>A (p.Phe252Tyr) c.467T>A (p.Phe156Tyr) c.*2467T>A (n.*2467T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.15644605T>C | CA351607072 | BTD | c.689T>C (p.Phe230Ser) c.399+2548T>C (n.399+2548T>C) c.165+2548T>C (n.165+2548T>C) c.749T>C (p.Phe250Ser) c.755T>C (p.Phe252Ser) c.467T>C (p.Phe156Ser) c.*2467T>C (n.*2467T>C) | |
3 | g.15644605T>G | CA351607074 | BTD | c.689T>G (p.Phe230Cys) c.399+2548T>G (n.399+2548T>G) c.165+2548T>G (n.165+2548T>G) c.749T>G (p.Phe250Cys) c.755T>G (p.Phe252Cys) c.467T>G (p.Phe156Cys) c.*2467T>G (n.*2467T>G) | |
3 | g.15644605T= | CA1347664078 | BTD | c.689T= (p.Phe230=) c.399+2548T= (n.399+2548T=) c.165+2548T= (n.165+2548T=) c.749T= (p.Phe250=) c.755T= (p.Phe252=) c.467T= (p.Phe156=) c.*2467T= (n.*2467T=) | |
3 | g.15644606C>A | CA351607076 | BTD | c.690C>A (p.Phe230Leu) c.399+2549C>A (n.399+2549C>A) c.165+2549C>A (n.165+2549C>A) c.750C>A (p.Phe250Leu) c.756C>A (p.Phe252Leu) c.468C>A (p.Phe156Leu) c.*2468C>A (n.*2468C>A) | |
3 | g.15644606C>G | CA351607078 | BTD | c.690C>G (p.Phe230Leu) c.399+2549C>G (n.399+2549C>G) c.165+2549C>G (n.165+2549C>G) c.750C>G (p.Phe250Leu) c.756C>G (p.Phe252Leu) c.468C>G (p.Phe156Leu) c.*2468C>G (n.*2468C>G) | |
3 | g.15644606C>T | CA432819271 | BTD | c.690C>T (p.Phe230=) c.399+2549C>T (n.399+2549C>T) c.165+2549C>T (n.165+2549C>T) c.750C>T (p.Phe250=) c.756C>T (p.Phe252=) c.468C>T (p.Phe156=) c.*2468C>T (n.*2468C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.15644607T>A | CA351607080 | BTD | c.691T>A (p.Phe231Ile) c.399+2550T>A (n.399+2550T>A) c.165+2550T>A (n.165+2550T>A) c.751T>A (p.Phe251Ile) c.757T>A (p.Phe253Ile) c.469T>A (p.Phe157Ile) c.*2469T>A (n.*2469T>A) | |
3 | g.15644607T>C | CA351607083 | BTD | c.691T>C (p.Phe231Leu) c.399+2550T>C (n.399+2550T>C) c.165+2550T>C (n.165+2550T>C) c.751T>C (p.Phe251Leu) c.757T>C (p.Phe253Leu) c.469T>C (p.Phe157Leu) c.*2469T>C (n.*2469T>C) | |
3 | g.15644607T>G | CA351607086 | BTD | c.691T>G (p.Phe231Val) c.399+2550T>G (n.399+2550T>G) c.165+2550T>G (n.165+2550T>G) c.751T>G (p.Phe251Val) c.757T>G (p.Phe253Val) c.469T>G (p.Phe157Val) c.*2469T>G (n.*2469T>G) | |
3 | g.15644608T>A | CA351607093 | BTD | c.692T>A (p.Phe231Tyr) c.399+2551T>A (n.399+2551T>A) c.165+2551T>A (n.165+2551T>A) c.752T>A (p.Phe251Tyr) c.758T>A (p.Phe253Tyr) c.470T>A (p.Phe157Tyr) c.*2470T>A (n.*2470T>A) | |
3 | g.15644608T>C | CA351607091 | BTD | c.692T>C (p.Phe231Ser) c.399+2551T>C (n.399+2551T>C) c.165+2551T>C (n.165+2551T>C) c.752T>C (p.Phe251Ser) c.758T>C (p.Phe253Ser) c.470T>C (p.Phe157Ser) c.*2470T>C (n.*2470T>C) | |
3 | g.15644608T>G | CA351607089 | BTD | c.692T>G (p.Phe231Cys) c.399+2551T>G (n.399+2551T>G) c.165+2551T>G (n.165+2551T>G) c.752T>G (p.Phe251Cys) c.758T>G (p.Phe253Cys) c.470T>G (p.Phe157Cys) c.*2470T>G (n.*2470T>G) | |
3 | g.15644609T>A | CA351607095 | BTD | c.693T>A (p.Phe231Leu) c.399+2552T>A (n.399+2552T>A) c.165+2552T>A (n.165+2552T>A) c.753T>A (p.Phe251Leu) c.759T>A (p.Phe253Leu) c.471T>A (p.Phe157Leu) c.*2471T>A (n.*2471T>A) | |
3 | g.15644609T>C | CA432819279 | BTD | c.693T>C (p.Phe231=) c.399+2552T>C (n.399+2552T>C) c.165+2552T>C (n.165+2552T>C) c.753T>C (p.Phe251=) c.759T>C (p.Phe253=) c.471T>C (p.Phe157=) c.*2471T>C (n.*2471T>C) | |
3 | g.15644609T>G | CA351607097 | BTD | c.693T>G (p.Phe231Leu) c.399+2552T>G (n.399+2552T>G) c.165+2552T>G (n.165+2552T>G) c.753T>G (p.Phe251Leu) c.759T>G (p.Phe253Leu) c.471T>G (p.Phe157Leu) c.*2471T>G (n.*2471T>G) | |
3 | g.15644610G>A | CA351607098 | BTD | c.694G>A (p.Asp232Asn) c.399+2553G>A (n.399+2553G>A) c.165+2553G>A (n.165+2553G>A) c.754G>A (p.Asp252Asn) c.760G>A (p.Asp254Asn) c.472G>A (p.Asp158Asn) c.*2472G>A (n.*2472G>A) | dbSNP gnomAD v4 |
3 | g.15644610G>C | CA351607100 | BTD | c.694G>C (p.Asp232His) c.399+2553G>C (n.399+2553G>C) c.165+2553G>C (n.165+2553G>C) c.754G>C (p.Asp252His) c.760G>C (p.Asp254His) c.472G>C (p.Asp158His) c.*2472G>C (n.*2472G>C) | |
3 | g.15644610G= | CA1347664083 | BTD | c.694G= (p.Asp232=) c.399+2553G= (n.399+2553G=) c.165+2553G= (n.165+2553G=) c.754G= (p.Asp252=) c.760G= (p.Asp254=) c.472G= (p.Asp158=) c.*2472G= (n.*2472G=) | |
3 | g.15644610G>T | CA351607102 | BTD | c.694G>T (p.Asp232Tyr) c.399+2553G>T (n.399+2553G>T) c.165+2553G>T (n.165+2553G>T) c.754G>T (p.Asp252Tyr) c.760G>T (p.Asp254Tyr) c.472G>T (p.Asp158Tyr) c.*2472G>T (n.*2472G>T) | |
3 | g.15644611A= | CA1347664086 | BTD | c.695A= (p.Asp232=) c.399+2554A= (n.399+2554A=) c.165+2554A= (n.165+2554A=) c.755A= (p.Asp252=) c.761A= (p.Asp254=) c.473A= (p.Asp158=) c.*2473A= (n.*2473A=) | |
3 | g.15644611A>C | CA351607105 | BTD | c.695A>C (p.Asp232Ala) c.399+2554A>C (n.399+2554A>C) c.165+2554A>C (n.165+2554A>C) c.755A>C (p.Asp252Ala) c.761A>C (p.Asp254Ala) c.473A>C (p.Asp158Ala) c.*2473A>C (n.*2473A>C) | |
3 | g.15644611A>G | CA278012 | BTD | c.695A>G (p.Asp232Gly) c.399+2554A>G (n.399+2554A>G) c.165+2554A>G (n.165+2554A>G) c.755A>G (p.Asp252Gly) c.761A>G (p.Asp254Gly) c.473A>G (p.Asp158Gly) c.*2473A>G (n.*2473A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.15644611A>T | CA351607107 | BTD | c.695A>T (p.Asp232Val) c.399+2554A>T (n.399+2554A>T) c.165+2554A>T (n.165+2554A>T) c.755A>T (p.Asp252Val) c.761A>T (p.Asp254Val) c.473A>T (p.Asp158Val) c.*2473A>T (n.*2473A>T) | |
3 | g.15644612C>A | CA351607110 | BTD | c.696C>A (p.Asp232Glu) c.399+2555C>A (n.399+2555C>A) c.165+2555C>A (n.165+2555C>A) c.756C>A (p.Asp252Glu) c.762C>A (p.Asp254Glu) c.474C>A (p.Asp158Glu) c.*2474C>A (n.*2474C>A) | gnomAD v4 |
3 | g.15644612C= | CA1347664089 | BTD | c.696C= (p.Asp232=) c.399+2555C= (n.399+2555C=) c.165+2555C= (n.165+2555C=) c.756C= (p.Asp252=) c.762C= (p.Asp254=) c.474C= (p.Asp158=) c.*2474C= (n.*2474C=) | |
3 | g.15644612C>G | CA351607111 | BTD | c.696C>G (p.Asp232Glu) c.399+2555C>G (n.399+2555C>G) c.165+2555C>G (n.165+2555C>G) c.756C>G (p.Asp252Glu) c.762C>G (p.Asp254Glu) c.474C>G (p.Asp158Glu) c.*2474C>G (n.*2474C>G) | |
3 | g.15644612C>T | CA2277372 | BTD | c.696C>T (p.Asp232=) c.399+2555C>T (n.399+2555C>T) c.165+2555C>T (n.165+2555C>T) c.756C>T (p.Asp252=) c.762C>T (p.Asp254=) c.474C>T (p.Asp158=) c.*2474C>T (n.*2474C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.15644613C>A | CA351607114 | BTD | c.697C>A (p.Pro233Thr) c.399+2556C>A (n.399+2556C>A) c.165+2556C>A (n.165+2556C>A) c.757C>A (p.Pro253Thr) c.763C>A (p.Pro255Thr) c.475C>A (p.Pro159Thr) c.*2475C>A (n.*2475C>A) | |
3 | g.15644613C= | CA1347664092 | BTD | c.697C= (p.Pro233=) c.399+2556C= (n.399+2556C=) c.165+2556C= (n.165+2556C=) c.757C= (p.Pro253=) c.763C= (p.Pro255=) c.475C= (p.Pro159=) c.*2475C= (n.*2475C=) | |
3 | g.15644613C>G | CA351607115 | BTD | c.697C>G (p.Pro233Ala) c.399+2556C>G (n.399+2556C>G) c.165+2556C>G (n.165+2556C>G) c.757C>G (p.Pro253Ala) c.763C>G (p.Pro255Ala) c.475C>G (p.Pro159Ala) c.*2475C>G (n.*2475C>G) | |
3 | g.15644613C>T | CA278256 | BTD | c.697C>T (p.Pro233Ser) c.399+2556C>T (n.399+2556C>T) c.165+2556C>T (n.165+2556C>T) c.757C>T (p.Pro253Ser) c.763C>T (p.Pro255Ser) c.475C>T (p.Pro159Ser) c.*2475C>T (n.*2475C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.15644614C>A | CA351607119 | BTD | c.698C>A (p.Pro233His) c.399+2557C>A (n.399+2557C>A) c.165+2557C>A (n.165+2557C>A) c.758C>A (p.Pro253His) c.764C>A (p.Pro255His) c.476C>A (p.Pro159His) c.*2476C>A (n.*2476C>A) | |
3 | g.15644614C= | CA1347664097 | BTD | c.698C= (p.Pro233=) c.399+2557C= (n.399+2557C=) c.165+2557C= (n.165+2557C=) c.758C= (p.Pro253=) c.764C= (p.Pro255=) c.476C= (p.Pro159=) c.*2476C= (n.*2476C=) | |
3 | g.15644614C>G | CA351607120 | BTD | c.698C>G (p.Pro233Arg) c.399+2557C>G (n.399+2557C>G) c.165+2557C>G (n.165+2557C>G) c.758C>G (p.Pro253Arg) c.764C>G (p.Pro255Arg) c.476C>G (p.Pro159Arg) c.*2476C>G (n.*2476C>G) | |
3 | g.15644614C>T | CA278390 | BTD | c.698C>T (p.Pro233Leu) c.399+2557C>T (n.399+2557C>T) c.165+2557C>T (n.165+2557C>T) c.758C>T (p.Pro253Leu) c.764C>T (p.Pro255Leu) c.476C>T (p.Pro159Leu) c.*2476C>T (n.*2476C>T) | ClinVar dbSNP |
3 | g.15644615T>A | CA432819289 | BTD | c.699T>A (p.Pro233=) c.399+2558T>A (n.399+2558T>A) c.165+2558T>A (n.165+2558T>A) c.759T>A (p.Pro253=) c.765T>A (p.Pro255=) c.477T>A (p.Pro159=) c.*2477T>A (n.*2477T>A) | |
3 | g.15644615T>C | CA432819290 | BTD | c.699T>C (p.Pro233=) c.399+2558T>C (n.399+2558T>C) c.165+2558T>C (n.165+2558T>C) c.759T>C (p.Pro253=) c.765T>C (p.Pro255=) c.477T>C (p.Pro159=) c.*2477T>C (n.*2477T>C) | ClinVar |
3 | g.15644615T>G | CA432819292 | BTD | c.699T>G (p.Pro233=) c.399+2558T>G (n.399+2558T>G) c.165+2558T>G (n.165+2558T>G) c.759T>G (p.Pro253=) c.765T>G (p.Pro255=) c.477T>G (p.Pro159=) c.*2477T>G (n.*2477T>G) | |
3 | g.15644616G>A | CA2277373 | BTD | c.700G>A (p.Ala234Thr) c.399+2559G>A (n.399+2559G>A) c.165+2559G>A (n.165+2559G>A) c.760G>A (p.Ala254Thr) c.766G>A (p.Ala256Thr) c.478G>A (p.Ala160Thr) c.*2478G>A (n.*2478G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.15644616G>C | CA351607122 | BTD | c.700G>C (p.Ala234Pro) c.399+2559G>C (n.399+2559G>C) c.165+2559G>C (n.165+2559G>C) c.760G>C (p.Ala254Pro) c.766G>C (p.Ala256Pro) c.478G>C (p.Ala160Pro) c.*2478G>C (n.*2478G>C) | |
3 | g.15644616G= | CA1347664099 | BTD | c.700G= (p.Ala234=) c.399+2559G= (n.399+2559G=) c.165+2559G= (n.165+2559G=) c.760G= (p.Ala254=) c.766G= (p.Ala256=) c.478G= (p.Ala160=) c.*2478G= (n.*2478G=) | |
3 | g.15644616G>T | CA351607124 | BTD | c.700G>T (p.Ala234Ser) c.399+2559G>T (n.399+2559G>T) c.165+2559G>T (n.165+2559G>T) c.760G>T (p.Ala254Ser) c.766G>T (p.Ala256Ser) c.478G>T (p.Ala160Ser) c.*2478G>T (n.*2478G>T) | gnomAD v4 |
3 | g.15644617C>A | CA351607126 | BTD | c.701C>A (p.Ala234Asp) c.399+2560C>A (n.399+2560C>A) c.165+2560C>A (n.165+2560C>A) c.761C>A (p.Ala254Asp) c.767C>A (p.Ala256Asp) c.479C>A (p.Ala160Asp) c.*2479C>A (n.*2479C>A) | |
3 | g.15644617C= | CA1347664100 | BTD | c.701C= (p.Ala234=) c.399+2560C= (n.399+2560C=) c.165+2560C= (n.165+2560C=) c.761C= (p.Ala254=) c.767C= (p.Ala256=) c.479C= (p.Ala160=) c.*2479C= (n.*2479C=) | |
3 | g.15644617C>G | CA351607130 | BTD | c.701C>G (p.Ala234Gly) c.399+2560C>G (n.399+2560C>G) c.165+2560C>G (n.165+2560C>G) c.761C>G (p.Ala254Gly) c.767C>G (p.Ala256Gly) c.479C>G (p.Ala160Gly) c.*2479C>G (n.*2479C>G) | |
3 | g.15644617C>T | CA351607128 | BTD | c.701C>T (p.Ala234Val) c.399+2560C>T (n.399+2560C>T) c.165+2560C>T (n.165+2560C>T) c.761C>T (p.Ala254Val) c.767C>T (p.Ala256Val) c.479C>T (p.Ala160Val) c.*2479C>T (n.*2479C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.15644618C>A | CA432819300 | BTD | c.702C>A (p.Ala234=) c.399+2561C>A (n.399+2561C>A) c.165+2561C>A (n.165+2561C>A) c.762C>A (p.Ala254=) c.768C>A (p.Ala256=) c.480C>A (p.Ala160=) c.*2480C>A (n.*2480C>A) | |
3 | g.15644618C>G | CA432819301 | BTD | c.702C>G (p.Ala234=) c.399+2561C>G (n.399+2561C>G) c.165+2561C>G (n.165+2561C>G) c.762C>G (p.Ala254=) c.768C>G (p.Ala256=) c.480C>G (p.Ala160=) c.*2480C>G (n.*2480C>G) | |
3 | g.15644618C>T | CA432819302 | BTD | c.702C>T (p.Ala234=) c.399+2561C>T (n.399+2561C>T) c.165+2561C>T (n.165+2561C>T) c.762C>T (p.Ala254=) c.768C>T (p.Ala256=) c.480C>T (p.Ala160=) c.*2480C>T (n.*2480C>T) | |
3 | g.15644619A= | CA1347664105 | BTD | c.703A= (p.Ile235=) c.399+2562A= (n.399+2562A=) c.165+2562A= (n.165+2562A=) c.763A= (p.Ile255=) c.769A= (p.Ile257=) c.481A= (p.Ile161=) c.*2481A= (n.*2481A=) | |
3 | g.15644619A>C | CA351607132 | BTD | c.703A>C (p.Ile235Leu) c.399+2562A>C (n.399+2562A>C) c.165+2562A>C (n.165+2562A>C) c.763A>C (p.Ile255Leu) c.769A>C (p.Ile257Leu) c.481A>C (p.Ile161Leu) c.*2481A>C (n.*2481A>C) | gnomAD v4 |
3 | g.15644619A>G | CA351607133 | BTD | c.703A>G (p.Ile235Val) c.399+2562A>G (n.399+2562A>G) c.165+2562A>G (n.165+2562A>G) c.763A>G (p.Ile255Val) c.769A>G (p.Ile257Val) c.481A>G (p.Ile161Val) c.*2481A>G (n.*2481A>G) | dbSNP gnomAD v4 |
3 | g.15644619A>T | CA351607135 | BTD | c.703A>T (p.Ile235Phe) c.399+2562A>T (n.399+2562A>T) c.165+2562A>T (n.165+2562A>T) c.763A>T (p.Ile255Phe) c.769A>T (p.Ile257Phe) c.481A>T (p.Ile161Phe) c.*2481A>T (n.*2481A>T) | |
3 | g.15644620T>A | CA351607137 | BTD | c.704T>A (p.Ile235Asn) c.399+2563T>A (n.399+2563T>A) c.165+2563T>A (n.165+2563T>A) c.764T>A (p.Ile255Asn) c.770T>A (p.Ile257Asn) c.482T>A (p.Ile161Asn) c.*2482T>A (n.*2482T>A) | |
3 | g.15644620T>C | CA278258 | BTD | c.704T>C (p.Ile235Thr) c.399+2563T>C (n.399+2563T>C) c.165+2563T>C (n.165+2563T>C) c.764T>C (p.Ile255Thr) c.770T>C (p.Ile257Thr) c.482T>C (p.Ile161Thr) c.*2482T>C (n.*2482T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.15644620T>G | CA351607140 | BTD | c.704T>G (p.Ile235Ser) c.399+2563T>G (n.399+2563T>G) c.165+2563T>G (n.165+2563T>G) c.764T>G (p.Ile255Ser) c.770T>G (p.Ile257Ser) c.482T>G (p.Ile161Ser) c.*2482T>G (n.*2482T>G) | |
3 | g.15644620T= | CA1347664111 | BTD | c.704T= (p.Ile235=) c.399+2563T= (n.399+2563T=) c.165+2563T= (n.165+2563T=) c.764T= (p.Ile255=) c.770T= (p.Ile257=) c.482T= (p.Ile161=) c.*2482T= (n.*2482T=) | |
3 | g.15644621C>A | CA432819307 | BTD | c.705C>A (p.Ile235=) c.399+2564C>A (n.399+2564C>A) c.165+2564C>A (n.165+2564C>A) c.765C>A (p.Ile255=) c.771C>A (p.Ile257=) c.483C>A (p.Ile161=) c.*2483C>A (n.*2483C>A) | |
3 | g.15644621C= | CA1347664113 | BTD | c.705C= (p.Ile235=) c.399+2564C= (n.399+2564C=) c.165+2564C= (n.165+2564C=) c.765C= (p.Ile255=) c.771C= (p.Ile257=) c.483C= (p.Ile161=) c.*2483C= (n.*2483C=) | |
3 | g.15644621C>G | CA351607143 | BTD | c.705C>G (p.Ile235Met) c.399+2564C>G (n.399+2564C>G) c.165+2564C>G (n.165+2564C>G) c.765C>G (p.Ile255Met) c.771C>G (p.Ile257Met) c.483C>G (p.Ile161Met) c.*2483C>G (n.*2483C>G) | ClinVar dbSNP |
3 | g.15644621C>T | CA432819308 | BTD | c.705C>T (p.Ile235=) c.399+2564C>T (n.399+2564C>T) c.165+2564C>T (n.165+2564C>T) c.765C>T (p.Ile255=) c.771C>T (p.Ile257=) c.483C>T (p.Ile161=) c.*2483C>T (n.*2483C>T) | |
3 | g.15644622A= | CA1347664117 | BTD | c.706A= (p.Arg236=) c.399+2565A= (n.399+2565A=) c.165+2565A= (n.165+2565A=) c.766A= (p.Arg256=) c.772A= (p.Arg258=) c.484A= (p.Arg162=) c.*2484A= (n.*2484A=) | |
3 | g.15644622A>C | CA432819309 | BTD | c.706A>C (p.Arg236=) c.399+2565A>C (n.399+2565A>C) c.165+2565A>C (n.165+2565A>C) c.766A>C (p.Arg256=) c.772A>C (p.Arg258=) c.484A>C (p.Arg162=) c.*2484A>C (n.*2484A>C) | |
3 | g.15644622A>G | CA351607145 | BTD | c.706A>G (p.Arg236Gly) c.399+2565A>G (n.399+2565A>G) c.165+2565A>G (n.165+2565A>G) c.766A>G (p.Arg256Gly) c.772A>G (p.Arg258Gly) c.484A>G (p.Arg162Gly) c.*2484A>G (n.*2484A>G) | dbSNP gnomAD v2 |
3 | g.15644622A>T | CA351607147 | BTD | c.706A>T (p.Arg236Ter) c.399+2565A>T (n.399+2565A>T) c.165+2565A>T (n.165+2565A>T) c.766A>T (p.Arg256Ter) c.772A>T (p.Arg258Ter) c.484A>T (p.Arg162Ter) c.*2484A>T (n.*2484A>T) | |
3 | g.15644623G>A | CA351607148 | BTD | c.707G>A (p.Arg236Lys) c.399+2566G>A (n.399+2566G>A) c.165+2566G>A (n.165+2566G>A) c.767G>A (p.Arg256Lys) c.773G>A (p.Arg258Lys) c.485G>A (p.Arg162Lys) c.*2485G>A (n.*2485G>A) | |
3 | g.15644623G>C | CA351607150 | BTD | c.707G>C (p.Arg236Thr) c.399+2566G>C (n.399+2566G>C) c.165+2566G>C (n.165+2566G>C) c.767G>C (p.Arg256Thr) c.773G>C (p.Arg258Thr) c.485G>C (p.Arg162Thr) c.*2485G>C (n.*2485G>C) | |
3 | g.15644623G>T | CA351607152 | BTD | c.707G>T (p.Arg236Ile) c.399+2566G>T (n.399+2566G>T) c.165+2566G>T (n.165+2566G>T) c.767G>T (p.Arg256Ile) c.773G>T (p.Arg258Ile) c.485G>T (p.Arg162Ile) c.*2485G>T (n.*2485G>T) | |
3 | g.15644624A>C | CA351607156 | BTD | c.708A>C (p.Arg236Ser) c.399+2567A>C (n.399+2567A>C) c.165+2567A>C (n.165+2567A>C) c.768A>C (p.Arg256Ser) c.774A>C (p.Arg258Ser) c.486A>C (p.Arg162Ser) c.*2486A>C (n.*2486A>C) | |
3 | g.15644624A>G | CA432819316 | BTD | c.708A>G (p.Arg236=) c.399+2567A>G (n.399+2567A>G) c.165+2567A>G (n.165+2567A>G) c.768A>G (p.Arg256=) c.774A>G (p.Arg258=) c.486A>G (p.Arg162=) c.*2486A>G (n.*2486A>G) | |
3 | g.15644624A>T | CA351607154 | BTD | c.708A>T (p.Arg236Ser) c.399+2567A>T (n.399+2567A>T) c.165+2567A>T (n.165+2567A>T) c.768A>T (p.Arg256Ser) c.774A>T (p.Arg258Ser) c.486A>T (p.Arg162Ser) c.*2486A>T (n.*2486A>T) | |
3 | g.15644625G>A | CA351607162 | BTD | c.709G>A (p.Val237Ile) c.399+2568G>A (n.399+2568G>A) c.165+2568G>A (n.165+2568G>A) c.769G>A (p.Val257Ile) c.775G>A (p.Val259Ile) c.487G>A (p.Val163Ile) c.*2487G>A (n.*2487G>A) | |
3 | g.15644625G>C | CA351607164 | BTD | c.709G>C (p.Val237Leu) c.399+2568G>C (n.399+2568G>C) c.165+2568G>C (n.165+2568G>C) c.769G>C (p.Val257Leu) c.775G>C (p.Val259Leu) c.487G>C (p.Val163Leu) c.*2487G>C (n.*2487G>C) | |
3 | g.15644625G>T | CA351607165 | BTD | c.709G>T (p.Val237Phe) c.399+2568G>T (n.399+2568G>T) c.165+2568G>T (n.165+2568G>T) c.769G>T (p.Val257Phe) c.775G>T (p.Val259Phe) c.487G>T (p.Val163Phe) c.*2487G>T (n.*2487G>T) | gnomAD v4 |
3 | g.15644626T>A | CA351607167 | BTD | c.710T>A (p.Val237Asp) c.399+2569T>A (n.399+2569T>A) c.165+2569T>A (n.165+2569T>A) c.770T>A (p.Val257Asp) c.776T>A (p.Val259Asp) c.488T>A (p.Val163Asp) c.*2488T>A (n.*2488T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.15644626T>C | CA351607170 | BTD | c.710T>C (p.Val237Ala) c.399+2569T>C (n.399+2569T>C) c.165+2569T>C (n.165+2569T>C) c.770T>C (p.Val257Ala) c.776T>C (p.Val259Ala) c.488T>C (p.Val163Ala) c.*2488T>C (n.*2488T>C) | |
3 | g.15644626T>G | CA351607172 | BTD | c.710T>G (p.Val237Gly) c.399+2569T>G (n.399+2569T>G) c.165+2569T>G (n.165+2569T>G) c.770T>G (p.Val257Gly) c.776T>G (p.Val259Gly) c.488T>G (p.Val163Gly) c.*2488T>G (n.*2488T>G) | |
3 | g.15644626T= | CA1347664120 | BTD | c.710T= (p.Val237=) c.399+2569T= (n.399+2569T=) c.165+2569T= (n.165+2569T=) c.770T= (p.Val257=) c.776T= (p.Val259=) c.488T= (p.Val163=) c.*2488T= (n.*2488T=) | |
3 | g.15644627C>A | CA432819325 | BTD | c.711C>A (p.Val237=) c.399+2570C>A (n.399+2570C>A) c.165+2570C>A (n.165+2570C>A) c.771C>A (p.Val257=) c.777C>A (p.Val259=) c.489C>A (p.Val163=) c.*2489C>A (n.*2489C>A) | |
3 | g.15644627C>G | CA432819324 | BTD | c.711C>G (p.Val237=) c.399+2570C>G (n.399+2570C>G) c.165+2570C>G (n.165+2570C>G) c.771C>G (p.Val257=) c.777C>G (p.Val259=) c.489C>G (p.Val163=) c.*2489C>G (n.*2489C>G) | |
3 | g.15644627C>T | CA432819323 | BTD | c.711C>T (p.Val237=) c.399+2570C>T (n.399+2570C>T) c.165+2570C>T (n.165+2570C>T) c.771C>T (p.Val257=) c.777C>T (p.Val259=) c.489C>T (p.Val163=) c.*2489C>T (n.*2489C>T) | ClinVar |
3 | g.15644628C>A | CA351607174 | BTD | c.712C>A (p.Leu238Ile) c.399+2571C>A (n.399+2571C>A) c.165+2571C>A (n.165+2571C>A) c.772C>A (p.Leu258Ile) c.778C>A (p.Leu260Ile) c.490C>A (p.Leu164Ile) c.*2490C>A (n.*2490C>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.15644628C= | CA1347664125 | BTD | c.712C= (p.Leu238=) c.399+2571C= (n.399+2571C=) c.165+2571C= (n.165+2571C=) c.772C= (p.Leu258=) c.778C= (p.Leu260=) c.490C= (p.Leu164=) c.*2490C= (n.*2490C=) | |
3 | g.15644628C>G | CA351607176 | BTD | c.712C>G (p.Leu238Val) c.399+2571C>G (n.399+2571C>G) c.165+2571C>G (n.165+2571C>G) c.772C>G (p.Leu258Val) c.778C>G (p.Leu260Val) c.490C>G (p.Leu164Val) c.*2490C>G (n.*2490C>G) | |
3 | g.15644628C>T | CA351607178 | BTD | c.712C>T (p.Leu238Phe) c.399+2571C>T (n.399+2571C>T) c.165+2571C>T (n.165+2571C>T) c.772C>T (p.Leu258Phe) c.778C>T (p.Leu260Phe) c.490C>T (p.Leu164Phe) c.*2490C>T (n.*2490C>T) | |
3 | g.15644629T>A | CA351607181 | BTD | c.713T>A (p.Leu238His) c.399+2572T>A (n.399+2572T>A) c.165+2572T>A (n.165+2572T>A) c.773T>A (p.Leu258His) c.779T>A (p.Leu260His) c.491T>A (p.Leu164His) c.*2491T>A (n.*2491T>A) | |
3 | g.15644629T>C | CA351607183 | BTD | c.713T>C (p.Leu238Pro) c.399+2572T>C (n.399+2572T>C) c.165+2572T>C (n.165+2572T>C) c.773T>C (p.Leu258Pro) c.779T>C (p.Leu260Pro) c.491T>C (p.Leu164Pro) c.*2491T>C (n.*2491T>C) | |
3 | g.15644629T>G | CA351607185 | BTD | c.713T>G (p.Leu238Arg) c.399+2572T>G (n.399+2572T>G) c.165+2572T>G (n.165+2572T>G) c.773T>G (p.Leu258Arg) c.779T>G (p.Leu260Arg) c.491T>G (p.Leu164Arg) c.*2491T>G (n.*2491T>G) | |
3 | g.15644630C>A | CA432819332 | BTD | c.714C>A (p.Leu238=) c.399+2573C>A (n.399+2573C>A) c.165+2573C>A (n.165+2573C>A) c.774C>A (p.Leu258=) c.780C>A (p.Leu260=) c.492C>A (p.Leu164=) c.*2492C>A (n.*2492C>A) | |
3 | g.15644630C>G | CA432819334 | BTD | c.714C>G (p.Leu238=) c.399+2573C>G (n.399+2573C>G) c.165+2573C>G (n.165+2573C>G) c.774C>G (p.Leu258=) c.780C>G (p.Leu260=) c.492C>G (p.Leu164=) c.*2492C>G (n.*2492C>G) | |
3 | g.15644630C>T | CA432819335 | BTD | c.714C>T (p.Leu238=) c.399+2573C>T (n.399+2573C>T) c.165+2573C>T (n.165+2573C>T) c.774C>T (p.Leu258=) c.780C>T (p.Leu260=) c.492C>T (p.Leu164=) c.*2492C>T (n.*2492C>T) | ClinVar dbSNP gnomAD v4 |
3 | g.15644631A>C | CA432819336 | BTD | c.715A>C (p.Arg239=) c.399+2574A>C (n.399+2574A>C) c.165+2574A>C (n.165+2574A>C) c.775A>C (p.Arg259=) c.781A>C (p.Arg261=) c.493A>C (p.Arg165=) c.*2493A>C (n.*2493A>C) | |
3 | g.15644631A>G | CA351607188 | BTD | c.715A>G (p.Arg239Gly) c.399+2574A>G (n.399+2574A>G) c.165+2574A>G (n.165+2574A>G) c.775A>G (p.Arg259Gly) c.781A>G (p.Arg261Gly) c.493A>G (p.Arg165Gly) c.*2493A>G (n.*2493A>G) | |
3 | g.15644631A>T | CA351607190 | BTD | c.715A>T (p.Arg239Ter) c.399+2574A>T (n.399+2574A>T) c.165+2574A>T (n.165+2574A>T) c.775A>T (p.Arg259Ter) c.781A>T (p.Arg261Ter) c.493A>T (p.Arg165Ter) c.*2493A>T (n.*2493A>T) | |
3 | g.15644632G>A | CA2277374 | BTD | c.716G>A (p.Arg239Lys) c.399+2575G>A (n.399+2575G>A) c.165+2575G>A (n.165+2575G>A) c.776G>A (p.Arg259Lys) c.782G>A (p.Arg261Lys) c.494G>A (p.Arg165Lys) c.*2494G>A (n.*2494G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.15644632G>C | CA351607192 | BTD | c.716G>C (p.Arg239Thr) c.399+2575G>C (n.399+2575G>C) c.165+2575G>C (n.165+2575G>C) c.776G>C (p.Arg259Thr) c.782G>C (p.Arg261Thr) c.494G>C (p.Arg165Thr) c.*2494G>C (n.*2494G>C) | |
3 | g.15644632G= | CA1347664130 | BTD | c.716G= (p.Arg239=) c.399+2575G= (n.399+2575G=) c.165+2575G= (n.165+2575G=) c.776G= (p.Arg259=) c.782G= (p.Arg261=) c.494G= (p.Arg165=) c.*2494G= (n.*2494G=) | |
3 | g.15644632G>T | CA351607194 | BTD | c.716G>T (p.Arg239Ile) c.399+2575G>T (n.399+2575G>T) c.165+2575G>T (n.165+2575G>T) c.776G>T (p.Arg259Ile) c.782G>T (p.Arg261Ile) c.494G>T (p.Arg165Ile) c.*2494G>T (n.*2494G>T) | |
3 | g.15644633A>C | CA351607195 | BTD | c.717A>C (p.Arg239Ser) c.399+2576A>C (n.399+2576A>C) c.165+2576A>C (n.165+2576A>C) c.777A>C (p.Arg259Ser) c.783A>C (p.Arg261Ser) c.495A>C (p.Arg165Ser) c.*2495A>C (n.*2495A>C) | |
3 | g.15644633A>G | CA432819338 | BTD | c.717A>G (p.Arg239=) c.399+2576A>G (n.399+2576A>G) c.165+2576A>G (n.165+2576A>G) c.777A>G (p.Arg259=) c.783A>G (p.Arg261=) c.495A>G (p.Arg165=) c.*2495A>G (n.*2495A>G) | |
3 | g.15644633A>T | CA351607197 | BTD | c.717A>T (p.Arg239Ser) c.399+2576A>T (n.399+2576A>T) c.165+2576A>T (n.165+2576A>T) c.777A>T (p.Arg259Ser) c.783A>T (p.Arg261Ser) c.495A>T (p.Arg165Ser) c.*2495A>T (n.*2495A>T) | |
3 | g.15644634G>A | CA351607199 | BTD | c.718G>A (p.Asp240Asn) c.399+2577G>A (n.399+2577G>A) c.165+2577G>A (n.165+2577G>A) c.778G>A (p.Asp260Asn) c.784G>A (p.Asp262Asn) c.496G>A (p.Asp166Asn) c.*2496G>A (n.*2496G>A) | |
3 | g.15644634G>C | CA351607200 | BTD | c.718G>C (p.Asp240His) c.399+2577G>C (n.399+2577G>C) c.165+2577G>C (n.165+2577G>C) c.778G>C (p.Asp260His) c.784G>C (p.Asp262His) c.496G>C (p.Asp166His) c.*2496G>C (n.*2496G>C) | |
3 | g.15644634G>T | CA351607201 | BTD | c.718G>T (p.Asp240Tyr) c.399+2577G>T (n.399+2577G>T) c.165+2577G>T (n.165+2577G>T) c.778G>T (p.Asp260Tyr) c.784G>T (p.Asp262Tyr) c.496G>T (p.Asp166Tyr) c.*2496G>T (n.*2496G>T) | |
3 | g.15644634_15644637del | CA913102313 | BTD | c.718_721del (p.Asp240ThrfsTer3) c.399+2577_399+2580del (n.399+2577_399+2580del) c.165+2577_165+2580del (n.165+2577_165+2580del) c.778_781del (p.Asp260ThrfsTer3) c.784_787del (p.Asp262ThrfsTer3) c.496_499del (p.Asp166ThrfsTer3) c.*2496_*2499del (n.*2496_*2499del) | |
3 | g.15644634_15644637delinsGACT | CA1347664133 | BTD | c.718_721delinsGACT (p.Asp240=) c.399+2577_399+2580delinsGACT (n.399+2577_399+2580delinsGACT) c.165+2577_165+2580delinsGACT (n.165+2577_165+2580delinsGACT) c.778_781delinsGACT (p.Asp260=) c.784_787delinsGACT (p.Asp262=) c.496_499delinsGACT (p.Asp166=) c.*2496_*2499delinsGACT (n.*2496_*2499delinsGACT) | |
3 | g.15644635A= | CA1347664138 | BTD | c.719A= (p.Asp240=) c.399+2578A= (n.399+2578A=) c.165+2578A= (n.165+2578A=) c.779A= (p.Asp260=) c.785A= (p.Asp262=) c.497A= (p.Asp166=) c.*2497A= (n.*2497A=) | |
3 | g.15644635A>C | CA2277375 | BTD | c.719A>C (p.Asp240Ala) c.399+2578A>C (n.399+2578A>C) c.165+2578A>C (n.165+2578A>C) c.779A>C (p.Asp260Ala) c.785A>C (p.Asp262Ala) c.497A>C (p.Asp166Ala) c.*2497A>C (n.*2497A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.15644635A>G | CA351607202 | BTD | c.719A>G (p.Asp240Gly) c.399+2578A>G (n.399+2578A>G) c.165+2578A>G (n.165+2578A>G) c.779A>G (p.Asp260Gly) c.785A>G (p.Asp262Gly) c.497A>G (p.Asp166Gly) c.*2497A>G (n.*2497A>G) | |
3 | g.15644635A>T | CA351607203 | BTD | c.719A>T (p.Asp240Val) c.399+2578A>T (n.399+2578A>T) c.165+2578A>T (n.165+2578A>T) c.779A>T (p.Asp260Val) c.785A>T (p.Asp262Val) c.497A>T (p.Asp166Val) c.*2497A>T (n.*2497A>T) | |
3 | g.15644637_15644639del | CA658822117 | BTD | c.721_723del (p.Tyr241del) c.399+2580_399+2582del (n.399+2580_399+2582del) c.165+2580_165+2582del (n.165+2580_165+2582del) c.781_783del (p.Tyr261del) c.787_789del (p.Tyr263del) c.499_501del (p.Tyr167del) c.*2499_*2501del (n.*2499_*2501del) | ClinVar dbSNP |
3 | g.15644636C>A | CA351607204 | BTD | c.720C>A (p.Asp240Glu) c.399+2579C>A (n.399+2579C>A) c.165+2579C>A (n.165+2579C>A) c.780C>A (p.Asp260Glu) c.786C>A (p.Asp262Glu) c.498C>A (p.Asp166Glu) c.*2498C>A (n.*2498C>A) | |
3 | g.15644636C>G | CA351607205 | BTD | c.720C>G (p.Asp240Glu) c.399+2579C>G (n.399+2579C>G) c.165+2579C>G (n.165+2579C>G) c.780C>G (p.Asp260Glu) c.786C>G (p.Asp262Glu) c.498C>G (p.Asp166Glu) c.*2498C>G (n.*2498C>G) | |
3 | g.15644636C>T | CA432819342 | BTD | c.720C>T (p.Asp240=) c.399+2579C>T (n.399+2579C>T) c.165+2579C>T (n.165+2579C>T) c.780C>T (p.Asp260=) c.786C>T (p.Asp262=) c.498C>T (p.Asp166=) c.*2498C>T (n.*2498C>T) | gnomAD v4 |
3 | g.15644637T>A | CA351607208 | BTD | c.721T>A (p.Tyr241Asn) c.399+2580T>A (n.399+2580T>A) c.165+2580T>A (n.165+2580T>A) c.781T>A (p.Tyr261Asn) c.787T>A (p.Tyr263Asn) c.499T>A (p.Tyr167Asn) c.*2499T>A (n.*2499T>A) | |
3 | g.15644637T>C | CA351607206 | BTD | c.721T>C (p.Tyr241His) c.399+2580T>C (n.399+2580T>C) c.165+2580T>C (n.165+2580T>C) c.781T>C (p.Tyr261His) c.787T>C (p.Tyr263His) c.499T>C (p.Tyr167His) c.*2499T>C (n.*2499T>C) | |
3 | g.15644637T>G | CA351607207 | BTD | c.721T>G (p.Tyr241Asp) c.399+2580T>G (n.399+2580T>G) c.165+2580T>G (n.165+2580T>G) c.781T>G (p.Tyr261Asp) c.787T>G (p.Tyr263Asp) c.499T>G (p.Tyr167Asp) c.*2499T>G (n.*2499T>G) | |
3 | g.15644638A>C | CA351607209 | BTD | c.722A>C (p.Tyr241Ser) c.399+2581A>C (n.399+2581A>C) c.165+2581A>C (n.165+2581A>C) c.782A>C (p.Tyr261Ser) c.788A>C (p.Tyr263Ser) c.500A>C (p.Tyr167Ser) c.*2500A>C (n.*2500A>C) | |
3 | g.15644638A>G | CA351607210 | BTD | c.722A>G (p.Tyr241Cys) c.399+2581A>G (n.399+2581A>G) c.165+2581A>G (n.165+2581A>G) c.782A>G (p.Tyr261Cys) c.788A>G (p.Tyr263Cys) c.500A>G (p.Tyr167Cys) c.*2500A>G (n.*2500A>G) | |
3 | g.15644638A>T | CA351607211 | BTD | c.722A>T (p.Tyr241Phe) c.399+2581A>T (n.399+2581A>T) c.165+2581A>T (n.165+2581A>T) c.782A>T (p.Tyr261Phe) c.788A>T (p.Tyr263Phe) c.500A>T (p.Tyr167Phe) c.*2500A>T (n.*2500A>T) | |
3 | g.15644639C>A | CA351607212 | BTD | c.723C>A (p.Tyr241Ter) c.399+2582C>A (n.399+2582C>A) c.165+2582C>A (n.165+2582C>A) c.783C>A (p.Tyr261Ter) c.789C>A (p.Tyr263Ter) c.501C>A (p.Tyr167Ter) c.*2501C>A (n.*2501C>A) | |
3 | g.15644639C= | CA1347664144 | BTD | c.723C= (p.Tyr241=) c.399+2582C= (n.399+2582C=) c.165+2582C= (n.165+2582C=) c.783C= (p.Tyr261=) c.789C= (p.Tyr263=) c.501C= (p.Tyr167=) c.*2501C= (n.*2501C=) | |
3 | g.15644639C>G | CA351607213 | BTD | c.723C>G (p.Tyr241Ter) c.399+2582C>G (n.399+2582C>G) c.165+2582C>G (n.165+2582C>G) c.783C>G (p.Tyr261Ter) c.789C>G (p.Tyr263Ter) c.501C>G (p.Tyr167Ter) c.*2501C>G (n.*2501C>G) | |
3 | g.15644639C>T | CA2277376 | BTD | c.723C>T (p.Tyr241=) c.399+2582C>T (n.399+2582C>T) c.165+2582C>T (n.165+2582C>T) c.783C>T (p.Tyr261=) c.789C>T (p.Tyr263=) c.501C>T (p.Tyr167=) c.*2501C>T (n.*2501C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.15644640A>C | CA351607214 | BTD | c.724A>C (p.Lys242Gln) c.399+2583A>C (n.399+2583A>C) c.165+2583A>C (n.165+2583A>C) c.784A>C (p.Lys262Gln) c.790A>C (p.Lys264Gln) c.502A>C (p.Lys168Gln) c.*2502A>C (n.*2502A>C) | gnomAD v4 |
3 | g.15644640A>G | CA351607215 | BTD | c.724A>G (p.Lys242Glu) c.399+2583A>G (n.399+2583A>G) c.165+2583A>G (n.165+2583A>G) c.784A>G (p.Lys262Glu) c.790A>G (p.Lys264Glu) c.502A>G (p.Lys168Glu) c.*2502A>G (n.*2502A>G) | |
3 | g.15644640A>T | CA351607216 | BTD | c.724A>T (p.Lys242Ter) c.399+2583A>T (n.399+2583A>T) c.165+2583A>T (n.165+2583A>T) c.784A>T (p.Lys262Ter) c.790A>T (p.Lys264Ter) c.502A>T (p.Lys168Ter) c.*2502A>T (n.*2502A>T) | |
3 | g.15644641A>C | CA351607217 | BTD | c.725A>C (p.Lys242Thr) c.399+2584A>C (n.399+2584A>C) c.165+2584A>C (n.165+2584A>C) c.785A>C (p.Lys262Thr) c.791A>C (p.Lys264Thr) c.503A>C (p.Lys168Thr) c.*2503A>C (n.*2503A>C) | |
3 | g.15644641A>G | CA351607218 | BTD | c.725A>G (p.Lys242Arg) c.399+2584A>G (n.399+2584A>G) c.165+2584A>G (n.165+2584A>G) c.785A>G (p.Lys262Arg) c.791A>G (p.Lys264Arg) c.503A>G (p.Lys168Arg) c.*2503A>G (n.*2503A>G) | |
3 | g.15644641A>T | CA351607219 | BTD | c.725A>T (p.Lys242Met) c.399+2584A>T (n.399+2584A>T) c.165+2584A>T (n.165+2584A>T) c.785A>T (p.Lys262Met) c.791A>T (p.Lys264Met) c.503A>T (p.Lys168Met) c.*2503A>T (n.*2503A>T) | |
3 | g.15644642G>A | CA432819347 | BTD | c.726G>A (p.Lys242=) c.399+2585G>A (n.399+2585G>A) c.165+2585G>A (n.165+2585G>A) c.786G>A (p.Lys262=) c.792G>A (p.Lys264=) c.504G>A (p.Lys168=) c.*2504G>A (n.*2504G>A) | COSMIC |
3 | g.15644642G>C | CA351607221 | BTD | c.726G>C (p.Lys242Asn) c.399+2585G>C (n.399+2585G>C) c.165+2585G>C (n.165+2585G>C) c.786G>C (p.Lys262Asn) c.792G>C (p.Lys264Asn) c.504G>C (p.Lys168Asn) c.*2504G>C (n.*2504G>C) | |
3 | g.15644642G>T | CA351607220 | BTD | c.726G>T (p.Lys242Asn) c.399+2585G>T (n.399+2585G>T) c.165+2585G>T (n.165+2585G>T) c.786G>T (p.Lys262Asn) c.792G>T (p.Lys264Asn) c.504G>T (p.Lys168Asn) c.*2504G>T (n.*2504G>T) | |
3 | g.15644643G>A | CA351607222 | BTD | c.727G>A (p.Val243Met) c.399+2586G>A (n.399+2586G>A) c.165+2586G>A (n.165+2586G>A) c.787G>A (p.Val263Met) c.793G>A (p.Val265Met) c.505G>A (p.Val169Met) c.*2505G>A (n.*2505G>A) | |
3 | g.15644643G>C | CA351607223 | BTD | c.727G>C (p.Val243Leu) c.399+2586G>C (n.399+2586G>C) c.165+2586G>C (n.165+2586G>C) c.787G>C (p.Val263Leu) c.793G>C (p.Val265Leu) c.505G>C (p.Val169Leu) c.*2505G>C (n.*2505G>C) | |
3 | g.15644643G= | CA1347664147 | BTD | c.727G= (p.Val243=) c.399+2586G= (n.399+2586G=) c.165+2586G= (n.165+2586G=) c.787G= (p.Val263=) c.793G= (p.Val265=) c.505G= (p.Val169=) c.*2505G= (n.*2505G=) | |
3 | g.15644643G>T | CA2277377 | BTD | c.727G>T (p.Val243Leu) c.399+2586G>T (n.399+2586G>T) c.165+2586G>T (n.165+2586G>T) c.787G>T (p.Val263Leu) c.793G>T (p.Val265Leu) c.505G>T (p.Val169Leu) c.*2505G>T (n.*2505G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.15644644T>A | CA351607224 | BTD | c.728T>A (p.Val243Glu) c.399+2587T>A (n.399+2587T>A) c.165+2587T>A (n.165+2587T>A) c.788T>A (p.Val263Glu) c.794T>A (p.Val265Glu) c.506T>A (p.Val169Glu) c.*2506T>A (n.*2506T>A) | |
3 | g.15644644T>C | CA351607225 | BTD | c.728T>C (p.Val243Ala) c.399+2587T>C (n.399+2587T>C) c.165+2587T>C (n.165+2587T>C) c.788T>C (p.Val263Ala) c.794T>C (p.Val265Ala) c.506T>C (p.Val169Ala) c.*2506T>C (n.*2506T>C) | |
3 | g.15644644T>G | CA351607226 | BTD | c.728T>G (p.Val243Gly) c.399+2587T>G (n.399+2587T>G) c.165+2587T>G (n.165+2587T>G) c.788T>G (p.Val263Gly) c.794T>G (p.Val265Gly) c.506T>G (p.Val169Gly) c.*2506T>G (n.*2506T>G) | |
3 | g.15644645G>A | CA2277378 | BTD | c.729G>A (p.Val243=) c.399+2588G>A (n.399+2588G>A) c.165+2588G>A (n.165+2588G>A) c.789G>A (p.Val263=) c.795G>A (p.Val265=) c.507G>A (p.Val169=) c.*2507G>A (n.*2507G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.15644645G>C | CA432819349 | BTD | c.729G>C (p.Val243=) c.399+2588G>C (n.399+2588G>C) c.165+2588G>C (n.165+2588G>C) c.789G>C (p.Val263=) c.795G>C (p.Val265=) c.507G>C (p.Val169=) c.*2507G>C (n.*2507G>C) | |
3 | g.15644645G= | CA1347664151 | BTD | c.729G= (p.Val243=) c.399+2588G= (n.399+2588G=) c.165+2588G= (n.165+2588G=) c.789G= (p.Val263=) c.795G= (p.Val265=) c.507G= (p.Val169=) c.*2507G= (n.*2507G=) | |
3 | g.15644645G>T | CA432819350 | BTD | c.729G>T (p.Val243=) c.399+2588G>T (n.399+2588G>T) c.165+2588G>T (n.165+2588G>T) c.789G>T (p.Val263=) c.795G>T (p.Val265=) c.507G>T (p.Val169=) c.*2507G>T (n.*2507G>T) | |
3 | g.15644646A>C | CA351607227 | BTD | c.730A>C (p.Lys244Gln) c.399+2589A>C (n.399+2589A>C) c.165+2589A>C (n.165+2589A>C) c.790A>C (p.Lys264Gln) c.796A>C (p.Lys266Gln) c.508A>C (p.Lys170Gln) c.*2508A>C (n.*2508A>C) | |
3 | g.15644646A>G | CA351607228 | BTD | c.730A>G (p.Lys244Glu) c.399+2589A>G (n.399+2589A>G) c.165+2589A>G (n.165+2589A>G) c.790A>G (p.Lys264Glu) c.796A>G (p.Lys266Glu) c.508A>G (p.Lys170Glu) c.*2508A>G (n.*2508A>G) | |
3 | g.15644646A>T | CA351607229 | BTD | c.730A>T (p.Lys244Ter) c.399+2589A>T (n.399+2589A>T) c.165+2589A>T (n.165+2589A>T) c.790A>T (p.Lys264Ter) c.796A>T (p.Lys266Ter) c.508A>T (p.Lys170Ter) c.*2508A>T (n.*2508A>T) | |
3 | g.15644647A>C | CA351607230 | BTD | c.731A>C (p.Lys244Thr) c.399+2590A>C (n.399+2590A>C) c.165+2590A>C (n.165+2590A>C) c.791A>C (p.Lys264Thr) c.797A>C (p.Lys266Thr) c.509A>C (p.Lys170Thr) c.*2509A>C (n.*2509A>C) | |
3 | g.15644647A>G | CA351607231 | BTD | c.731A>G (p.Lys244Arg) c.399+2590A>G (n.399+2590A>G) c.165+2590A>G (n.165+2590A>G) c.791A>G (p.Lys264Arg) c.797A>G (p.Lys266Arg) c.509A>G (p.Lys170Arg) c.*2509A>G (n.*2509A>G) | |
3 | g.15644647A>T | CA351607232 | BTD | c.731A>T (p.Lys244Met) c.399+2590A>T (n.399+2590A>T) c.165+2590A>T (n.165+2590A>T) c.791A>T (p.Lys264Met) c.797A>T (p.Lys266Met) c.509A>T (p.Lys170Met) c.*2509A>T (n.*2509A>T) | |
3 | g.15644648G>A | CA432819351 | BTD | c.732G>A (p.Lys244=) c.399+2591G>A (n.399+2591G>A) c.165+2591G>A (n.165+2591G>A) c.792G>A (p.Lys264=) c.798G>A (p.Lys266=) c.510G>A (p.Lys170=) c.*2510G>A (n.*2510G>A) | |
3 | g.15644648G>C | CA351607233 | BTD | c.732G>C (p.Lys244Asn) c.399+2591G>C (n.399+2591G>C) c.165+2591G>C (n.165+2591G>C) c.792G>C (p.Lys264Asn) c.798G>C (p.Lys266Asn) c.510G>C (p.Lys170Asn) c.*2510G>C (n.*2510G>C) | |
3 | g.15644648G>T | CA351607234 | BTD | c.732G>T (p.Lys244Asn) c.399+2591G>T (n.399+2591G>T) c.165+2591G>T (n.165+2591G>T) c.792G>T (p.Lys264Asn) c.798G>T (p.Lys266Asn) c.510G>T (p.Lys170Asn) c.*2510G>T (n.*2510G>T) |