| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15644443_15644458delinsCAAATGTCGTGTTCAG | CA1347663677 | BTD | c.527_542delinsCAAATGTCGTGTTCAG (p.Thr176=) c.399+2386_399+2401delinsCAAATGTCGTGTTCAG (n.399+2386_399+2401delinsCAAATGTCGTGTTCAG) c.165+2386_165+2401delinsCAAATGTCGTGTTCAG (n.165+2386_165+2401delinsCAAATGTCGTGTTCAG) c.587_602delinsCAAATGTCGTGTTCAG (p.Thr196=) c.593_608delinsCAAATGTCGTGTTCAG (p.Thr198=) c.305_320delinsCAAATGTCGTGTTCAG (p.Thr102=) c.*2305_*2320delinsCAAATGTCGTGTTCAG (n.*2305_*2320delinsCAAATGTCGTGTTCAG) | |
| 3 | g.15644444_15644458del | CA915941880 | BTD | c.528_542del (p.Asn177_Ser181del) c.399+2387_399+2401del (n.399+2387_399+2401del) c.165+2387_165+2401del (n.165+2387_165+2401del) c.588_602del (p.Asn197_Ser201del) c.594_608del (p.Asn199_Ser203del) c.306_320del (p.Asn103_Ser107del) c.*2306_*2320del (n.*2306_*2320del) | ClinVar dbSNP |
| 3 | g.15644453G>A | CA432819269 | BTD | c.537G>A (p.Val179=) c.399+2396G>A (n.399+2396G>A) c.165+2396G>A (n.165+2396G>A) c.597G>A (p.Val199=) c.603G>A (p.Val201=) c.315G>A (p.Val105=) c.*2315G>A (n.*2315G>A) | dbSNP |
| 3 | g.15644453G>C | CA432819270 | BTD | c.537G>C (p.Val179=) c.399+2396G>C (n.399+2396G>C) c.165+2396G>C (n.165+2396G>C) c.597G>C (p.Val199=) c.603G>C (p.Val201=) c.315G>C (p.Val105=) c.*2315G>C (n.*2315G>C) | |
| 3 | g.15644453G= | CA1347663718 | BTD | c.537G= (p.Val179=) c.399+2396G= (n.399+2396G=) c.165+2396G= (n.165+2396G=) c.597G= (p.Val199=) c.603G= (p.Val201=) c.315G= (p.Val105=) c.*2315G= (n.*2315G=) | |
| 3 | g.15644453G>T | CA432819272 | BTD | c.537G>T (p.Val179=) c.399+2396G>T (n.399+2396G>T) c.165+2396G>T (n.165+2396G>T) c.597G>T (p.Val199=) c.603G>T (p.Val201=) c.315G>T (p.Val105=) c.*2315G>T (n.*2315G>T) | |
| 3 | g.15644454T>A | CA351606549 | BTD | c.538T>A (p.Phe180Ile) c.399+2397T>A (n.399+2397T>A) c.165+2397T>A (n.165+2397T>A) c.598T>A (p.Phe200Ile) c.604T>A (p.Phe202Ile) c.316T>A (p.Phe106Ile) c.*2316T>A (n.*2316T>A) | |
| 3 | g.15644454T>C | CA351606550 | BTD | c.538T>C (p.Phe180Leu) c.399+2397T>C (n.399+2397T>C) c.165+2397T>C (n.165+2397T>C) c.598T>C (p.Phe200Leu) c.604T>C (p.Phe202Leu) c.316T>C (p.Phe106Leu) c.*2316T>C (n.*2316T>C) | |
| 3 | g.15644454T>G | CA351606552 | BTD | c.538T>G (p.Phe180Val) c.399+2397T>G (n.399+2397T>G) c.165+2397T>G (n.165+2397T>G) c.598T>G (p.Phe200Val) c.604T>G (p.Phe202Val) c.316T>G (p.Phe106Val) c.*2316T>G (n.*2316T>G) | |
| 3 | g.15644455T>A | CA351606556 | BTD | c.539T>A (p.Phe180Tyr) c.399+2398T>A (n.399+2398T>A) c.165+2398T>A (n.165+2398T>A) c.599T>A (p.Phe200Tyr) c.605T>A (p.Phe202Tyr) c.317T>A (p.Phe106Tyr) c.*2317T>A (n.*2317T>A) | |
| 3 | g.15644455T>C | CA351606558 | BTD | c.539T>C (p.Phe180Ser) c.399+2398T>C (n.399+2398T>C) c.165+2398T>C (n.165+2398T>C) c.599T>C (p.Phe200Ser) c.605T>C (p.Phe202Ser) c.317T>C (p.Phe106Ser) c.*2317T>C (n.*2317T>C) | |
| 3 | g.15644455T>G | CA351606554 | BTD | c.539T>G (p.Phe180Cys) c.399+2398T>G (n.399+2398T>G) c.165+2398T>G (n.165+2398T>G) c.599T>G (p.Phe200Cys) c.605T>G (p.Phe202Cys) c.317T>G (p.Phe106Cys) c.*2317T>G (n.*2317T>G) | |
| 3 | g.15644456C>A | CA351606562 | BTD | c.540C>A (p.Phe180Leu) c.399+2399C>A (n.399+2399C>A) c.165+2399C>A (n.165+2399C>A) c.600C>A (p.Phe200Leu) c.606C>A (p.Phe202Leu) c.318C>A (p.Phe106Leu) c.*2318C>A (n.*2318C>A) | |
| 3 | g.15644456C= | CA1347663719 | BTD | c.540C= (p.Phe180=) c.399+2399C= (n.399+2399C=) c.165+2399C= (n.165+2399C=) c.600C= (p.Phe200=) c.606C= (p.Phe202=) c.318C= (p.Phe106=) c.*2318C= (n.*2318C=) | |
| 3 | g.15644456C>G | CA351606560 | BTD | c.540C>G (p.Phe180Leu) c.399+2399C>G (n.399+2399C>G) c.165+2399C>G (n.165+2399C>G) c.600C>G (p.Phe200Leu) c.606C>G (p.Phe202Leu) c.318C>G (p.Phe106Leu) c.*2318C>G (n.*2318C>G) | |
| 3 | g.15644456C>T | CA432819277 | BTD | c.540C>T (p.Phe180=) c.399+2399C>T (n.399+2399C>T) c.165+2399C>T (n.165+2399C>T) c.600C>T (p.Phe200=) c.606C>T (p.Phe202=) c.318C>T (p.Phe106=) c.*2318C>T (n.*2318C>T) | dbSNP |
| 3 | g.15644457A= | CA1347663721 | BTD | c.541A= (p.Ser181=) c.399+2400A= (n.399+2400A=) c.165+2400A= (n.165+2400A=) c.601A= (p.Ser201=) c.607A= (p.Ser203=) c.319A= (p.Ser107=) c.*2319A= (n.*2319A=) | |
| 3 | g.15644457A>C | CA351606568 | BTD | c.541A>C (p.Ser181Arg) c.399+2400A>C (n.399+2400A>C) c.165+2400A>C (n.165+2400A>C) c.601A>C (p.Ser201Arg) c.607A>C (p.Ser203Arg) c.319A>C (p.Ser107Arg) c.*2319A>C (n.*2319A>C) | |
| 3 | g.15644457A>G | CA351606565 | BTD | c.541A>G (p.Ser181Gly) c.399+2400A>G (n.399+2400A>G) c.165+2400A>G (n.165+2400A>G) c.601A>G (p.Ser201Gly) c.607A>G (p.Ser203Gly) c.319A>G (p.Ser107Gly) c.*2319A>G (n.*2319A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644457A>T | CA351606566 | BTD | c.541A>T (p.Ser181Cys) c.399+2400A>T (n.399+2400A>T) c.165+2400A>T (n.165+2400A>T) c.601A>T (p.Ser201Cys) c.607A>T (p.Ser203Cys) c.319A>T (p.Ser107Cys) c.*2319A>T (n.*2319A>T) | |
| 3 | g.15644458G>A | CA351606571 | BTD | c.542G>A (p.Ser181Asn) c.399+2401G>A (n.399+2401G>A) c.165+2401G>A (n.165+2401G>A) c.602G>A (p.Ser201Asn) c.608G>A (p.Ser203Asn) c.320G>A (p.Ser107Asn) c.*2320G>A (n.*2320G>A) | dbSNP |
| 3 | g.15644458G>C | CA351606573 | BTD | c.542G>C (p.Ser181Thr) c.399+2401G>C (n.399+2401G>C) c.165+2401G>C (n.165+2401G>C) c.602G>C (p.Ser201Thr) c.608G>C (p.Ser203Thr) c.320G>C (p.Ser107Thr) c.*2320G>C (n.*2320G>C) | |
| 3 | g.15644458G>T | CA351606575 | BTD | c.542G>T (p.Ser181Ile) c.399+2401G>T (n.399+2401G>T) c.165+2401G>T (n.165+2401G>T) c.602G>T (p.Ser201Ile) c.608G>T (p.Ser203Ile) c.320G>T (p.Ser107Ile) c.*2320G>T (n.*2320G>T) | |
| 3 | g.15644459C>A | CA351606577 | BTD | c.543C>A (p.Ser181Arg) c.399+2402C>A (n.399+2402C>A) c.165+2402C>A (n.165+2402C>A) c.603C>A (p.Ser201Arg) c.609C>A (p.Ser203Arg) c.321C>A (p.Ser107Arg) c.*2321C>A (n.*2321C>A) | |
| 3 | g.15644459C>G | CA351606579 | BTD | c.543C>G (p.Ser181Arg) c.399+2402C>G (n.399+2402C>G) c.165+2402C>G (n.165+2402C>G) c.603C>G (p.Ser201Arg) c.609C>G (p.Ser203Arg) c.321C>G (p.Ser107Arg) c.*2321C>G (n.*2321C>G) | |
| 3 | g.15644459C>T | CA432819283 | BTD | c.543C>T (p.Ser181=) c.399+2402C>T (n.399+2402C>T) c.165+2402C>T (n.165+2402C>T) c.603C>T (p.Ser201=) c.609C>T (p.Ser203=) c.321C>T (p.Ser107=) c.*2321C>T (n.*2321C>T) | |
| 3 | g.15644460A>C | CA351606581 | BTD | c.544A>C (p.Asn182His) c.399+2403A>C (n.399+2403A>C) c.165+2403A>C (n.165+2403A>C) c.604A>C (p.Asn202His) c.610A>C (p.Asn204His) c.322A>C (p.Asn108His) c.*2322A>C (n.*2322A>C) | |
| 3 | g.15644460A>G | CA351606582 | BTD | c.544A>G (p.Asn182Asp) c.399+2403A>G (n.399+2403A>G) c.165+2403A>G (n.165+2403A>G) c.604A>G (p.Asn202Asp) c.610A>G (p.Asn204Asp) c.322A>G (p.Asn108Asp) c.*2322A>G (n.*2322A>G) | |
| 3 | g.15644460A>T | CA351606583 | BTD | c.544A>T (p.Asn182Tyr) c.399+2403A>T (n.399+2403A>T) c.165+2403A>T (n.165+2403A>T) c.604A>T (p.Asn202Tyr) c.610A>T (p.Asn204Tyr) c.322A>T (p.Asn108Tyr) c.*2322A>T (n.*2322A>T) | |
| 3 | g.15644461A= | CA1347663727 | BTD | c.545A= (p.Asn182=) c.399+2404A= (n.399+2404A=) c.165+2404A= (n.165+2404A=) c.605A= (p.Asn202=) c.611A= (p.Asn204=) c.323A= (p.Asn108=) c.*2323A= (n.*2323A=) | |
| 3 | g.15644461A>C | CA351606586 | BTD | c.545A>C (p.Asn182Thr) c.399+2404A>C (n.399+2404A>C) c.165+2404A>C (n.165+2404A>C) c.605A>C (p.Asn202Thr) c.611A>C (p.Asn204Thr) c.323A>C (p.Asn108Thr) c.*2323A>C (n.*2323A>C) | gnomAD v4 |
| 3 | g.15644461A>G | CA2277347 | BTD | c.545A>G (p.Asn182Ser) c.399+2404A>G (n.399+2404A>G) c.165+2404A>G (n.165+2404A>G) c.605A>G (p.Asn202Ser) c.611A>G (p.Asn204Ser) c.323A>G (p.Asn108Ser) c.*2323A>G (n.*2323A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644461A>T | CA278237 | BTD | c.545A>T (p.Asn182Ile) c.399+2404A>T (n.399+2404A>T) c.165+2404A>T (n.165+2404A>T) c.605A>T (p.Asn202Ile) c.611A>T (p.Asn204Ile) c.323A>T (p.Asn108Ile) c.*2323A>T (n.*2323A>T) | ClinVar dbSNP |
| 3 | g.15644462T>A | CA2277348 | BTD | c.546T>A (p.Asn182Lys) c.399+2405T>A (n.399+2405T>A) c.165+2405T>A (n.165+2405T>A) c.606T>A (p.Asn202Lys) c.612T>A (p.Asn204Lys) c.324T>A (p.Asn108Lys) c.*2324T>A (n.*2324T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644462T>C | CA432819288 | BTD | c.546T>C (p.Asn182=) c.399+2405T>C (n.399+2405T>C) c.165+2405T>C (n.165+2405T>C) c.606T>C (p.Asn202=) c.612T>C (p.Asn204=) c.324T>C (p.Asn108=) c.*2324T>C (n.*2324T>C) | |
| 3 | g.15644462T>G | CA351606590 | BTD | c.546T>G (p.Asn182Lys) c.399+2405T>G (n.399+2405T>G) c.165+2405T>G (n.165+2405T>G) c.606T>G (p.Asn202Lys) c.612T>G (p.Asn204Lys) c.324T>G (p.Asn108Lys) c.*2324T>G (n.*2324T>G) | |
| 3 | g.15644462T= | CA1347663730 | BTD | c.546T= (p.Asn182=) c.399+2405T= (n.399+2405T=) c.165+2405T= (n.165+2405T=) c.606T= (p.Asn202=) c.612T= (p.Asn204=) c.324T= (p.Asn108=) c.*2324T= (n.*2324T=) | |
| 3 | g.15644463A= | CA1347663734 | BTD | c.547A= (p.Asn183=) c.399+2406A= (n.399+2406A=) c.165+2406A= (n.165+2406A=) c.607A= (p.Asn203=) c.613A= (p.Asn205=) c.325A= (p.Asn109=) c.*2325A= (n.*2325A=) | |
| 3 | g.15644463A>C | CA351606593 | BTD | c.547A>C (p.Asn183His) c.399+2406A>C (n.399+2406A>C) c.165+2406A>C (n.165+2406A>C) c.607A>C (p.Asn203His) c.613A>C (p.Asn205His) c.325A>C (p.Asn109His) c.*2325A>C (n.*2325A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644463A>G | CA351606595 | BTD | c.547A>G (p.Asn183Asp) c.399+2406A>G (n.399+2406A>G) c.165+2406A>G (n.165+2406A>G) c.607A>G (p.Asn203Asp) c.613A>G (p.Asn205Asp) c.325A>G (p.Asn109Asp) c.*2325A>G (n.*2325A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644463A>T | CA351606597 | BTD | c.547A>T (p.Asn183Tyr) c.399+2406A>T (n.399+2406A>T) c.165+2406A>T (n.165+2406A>T) c.607A>T (p.Asn203Tyr) c.613A>T (p.Asn205Tyr) c.325A>T (p.Asn109Tyr) c.*2325A>T (n.*2325A>T) | |
| 3 | g.15644464A= | CA1347663739 | BTD | c.548A= (p.Asn183=) c.399+2407A= (n.399+2407A=) c.165+2407A= (n.165+2407A=) c.608A= (p.Asn203=) c.614A= (p.Asn205=) c.326A= (p.Asn109=) c.*2326A= (n.*2326A=) | |
| 3 | g.15644464A>C | CA351606599 | BTD | c.548A>C (p.Asn183Thr) c.399+2407A>C (n.399+2407A>C) c.165+2407A>C (n.165+2407A>C) c.608A>C (p.Asn203Thr) c.614A>C (p.Asn205Thr) c.326A>C (p.Asn109Thr) c.*2326A>C (n.*2326A>C) | |
| 3 | g.15644464A>G | CA351606601 | BTD | c.548A>G (p.Asn183Ser) c.399+2407A>G (n.399+2407A>G) c.165+2407A>G (n.165+2407A>G) c.608A>G (p.Asn203Ser) c.614A>G (p.Asn205Ser) c.326A>G (p.Asn109Ser) c.*2326A>G (n.*2326A>G) | |
| 3 | g.15644464A>T | CA351606603 | BTD | c.548A>T (p.Asn183Ile) c.399+2407A>T (n.399+2407A>T) c.165+2407A>T (n.165+2407A>T) c.608A>T (p.Asn203Ile) c.614A>T (p.Asn205Ile) c.326A>T (p.Asn109Ile) c.*2326A>T (n.*2326A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644465T>A | CA351606604 | BTD | c.549T>A (p.Asn183Lys) c.399+2408T>A (n.399+2408T>A) c.165+2408T>A (n.165+2408T>A) c.609T>A (p.Asn203Lys) c.615T>A (p.Asn205Lys) c.327T>A (p.Asn109Lys) c.*2327T>A (n.*2327T>A) | |
| 3 | g.15644465T>C | CA432819299 | BTD | c.549T>C (p.Asn183=) c.399+2408T>C (n.399+2408T>C) c.165+2408T>C (n.165+2408T>C) c.609T>C (p.Asn203=) c.615T>C (p.Asn205=) c.327T>C (p.Asn109=) c.*2327T>C (n.*2327T>C) | gnomAD v4 |
| 3 | g.15644465T>G | CA351606606 | BTD | c.549T>G (p.Asn183Lys) c.399+2408T>G (n.399+2408T>G) c.165+2408T>G (n.165+2408T>G) c.609T>G (p.Asn203Lys) c.615T>G (p.Asn205Lys) c.327T>G (p.Asn109Lys) c.*2327T>G (n.*2327T>G) | |
| 3 | g.15644466G>A | CA351606608 | BTD | c.550G>A (p.Gly184Arg) c.399+2409G>A (n.399+2409G>A) c.165+2409G>A (n.165+2409G>A) c.610G>A (p.Gly204Arg) c.616G>A (p.Gly206Arg) c.328G>A (p.Gly110Arg) c.*2328G>A (n.*2328G>A) | ClinVar gnomAD v4 |
| 3 | g.15644466G>C | CA351606610 | BTD | c.550G>C (p.Gly184Arg) c.399+2409G>C (n.399+2409G>C) c.165+2409G>C (n.165+2409G>C) c.610G>C (p.Gly204Arg) c.616G>C (p.Gly206Arg) c.328G>C (p.Gly110Arg) c.*2328G>C (n.*2328G>C) | |
| 3 | g.15644466G>T | CA351606612 | BTD | c.550G>T (p.Gly184Ter) c.399+2409G>T (n.399+2409G>T) c.165+2409G>T (n.165+2409G>T) c.610G>T (p.Gly204Ter) c.616G>T (p.Gly206Ter) c.328G>T (p.Gly110Ter) c.*2328G>T (n.*2328G>T) | |
| 3 | g.15644467G>A | CA351606614 | BTD | c.551G>A (p.Gly184Glu) c.399+2410G>A (n.399+2410G>A) c.165+2410G>A (n.165+2410G>A) c.611G>A (p.Gly204Glu) c.617G>A (p.Gly206Glu) c.329G>A (p.Gly110Glu) c.*2329G>A (n.*2329G>A) | COSMIC |
| 3 | g.15644467G>C | CA351606616 | BTD | c.551G>C (p.Gly184Ala) c.399+2410G>C (n.399+2410G>C) c.165+2410G>C (n.165+2410G>C) c.611G>C (p.Gly204Ala) c.617G>C (p.Gly206Ala) c.329G>C (p.Gly110Ala) c.*2329G>C (n.*2329G>C) | |
| 3 | g.15644467G>T | CA351606617 | BTD | c.551G>T (p.Gly184Val) c.399+2410G>T (n.399+2410G>T) c.165+2410G>T (n.165+2410G>T) c.611G>T (p.Gly204Val) c.617G>T (p.Gly206Val) c.329G>T (p.Gly110Val) c.*2329G>T (n.*2329G>T) | |
| 3 | g.15644468A= | CA1347663743 | BTD | c.552A= (p.Gly184=) c.399+2411A= (n.399+2411A=) c.165+2411A= (n.165+2411A=) c.612A= (p.Gly204=) c.618A= (p.Gly206=) c.330A= (p.Gly110=) c.*2330A= (n.*2330A=) | |
| 3 | g.15644468A>C | CA432819304 | BTD | c.552A>C (p.Gly184=) c.399+2411A>C (n.399+2411A>C) c.165+2411A>C (n.165+2411A>C) c.612A>C (p.Gly204=) c.618A>C (p.Gly206=) c.330A>C (p.Gly110=) c.*2330A>C (n.*2330A>C) | |
| 3 | g.15644468A>G | CA432819305 | BTD | c.552A>G (p.Gly184=) c.399+2411A>G (n.399+2411A>G) c.165+2411A>G (n.165+2411A>G) c.612A>G (p.Gly204=) c.618A>G (p.Gly206=) c.330A>G (p.Gly110=) c.*2330A>G (n.*2330A>G) | |
| 3 | g.15644468A>T | CA2277349 | BTD | c.552A>T (p.Gly184=) c.399+2411A>T (n.399+2411A>T) c.165+2411A>T (n.165+2411A>T) c.612A>T (p.Gly204=) c.618A>T (p.Gly206=) c.330A>T (p.Gly110=) c.*2330A>T (n.*2330A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644469A= | CA1347663745 | BTD | c.553A= (p.Thr185=) c.399+2412A= (n.399+2412A=) c.165+2412A= (n.165+2412A=) c.613A= (p.Thr205=) c.619A= (p.Thr207=) c.331A= (p.Thr111=) c.*2331A= (n.*2331A=) | |
| 3 | g.15644469A>C | CA351606624 | BTD | c.553A>C (p.Thr185Pro) c.399+2412A>C (n.399+2412A>C) c.165+2412A>C (n.165+2412A>C) c.613A>C (p.Thr205Pro) c.619A>C (p.Thr207Pro) c.331A>C (p.Thr111Pro) c.*2331A>C (n.*2331A>C) | dbSNP |
| 3 | g.15644469A>G | CA351606621 | BTD | c.553A>G (p.Thr185Ala) c.399+2412A>G (n.399+2412A>G) c.165+2412A>G (n.165+2412A>G) c.613A>G (p.Thr205Ala) c.619A>G (p.Thr207Ala) c.331A>G (p.Thr111Ala) c.*2331A>G (n.*2331A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644469A>T | CA351606622 | BTD | c.553A>T (p.Thr185Ser) c.399+2412A>T (n.399+2412A>T) c.165+2412A>T (n.165+2412A>T) c.613A>T (p.Thr205Ser) c.619A>T (p.Thr207Ser) c.331A>T (p.Thr111Ser) c.*2331A>T (n.*2331A>T) | |
| 3 | g.15644470C>A | CA2277350 | BTD | c.554C>A (p.Thr185Asn) c.399+2413C>A (n.399+2413C>A) c.165+2413C>A (n.165+2413C>A) c.614C>A (p.Thr205Asn) c.620C>A (p.Thr207Asn) c.332C>A (p.Thr111Asn) c.*2332C>A (n.*2332C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644470C= | CA1347663747 | BTD | c.554C= (p.Thr185=) c.399+2413C= (n.399+2413C=) c.165+2413C= (n.165+2413C=) c.614C= (p.Thr205=) c.620C= (p.Thr207=) c.332C= (p.Thr111=) c.*2332C= (n.*2332C=) | |
| 3 | g.15644470C>G | CA351606627 | BTD | c.554C>G (p.Thr185Ser) c.399+2413C>G (n.399+2413C>G) c.165+2413C>G (n.165+2413C>G) c.614C>G (p.Thr205Ser) c.620C>G (p.Thr207Ser) c.332C>G (p.Thr111Ser) c.*2332C>G (n.*2332C>G) | |
| 3 | g.15644470C>T | CA351606629 | BTD | c.554C>T (p.Thr185Ile) c.399+2413C>T (n.399+2413C>T) c.165+2413C>T (n.165+2413C>T) c.614C>T (p.Thr205Ile) c.620C>T (p.Thr207Ile) c.332C>T (p.Thr111Ile) c.*2332C>T (n.*2332C>T) | |
| 3 | g.15644471C>A | CA432819313 | BTD | c.555C>A (p.Thr185=) c.399+2414C>A (n.399+2414C>A) c.165+2414C>A (n.165+2414C>A) c.615C>A (p.Thr205=) c.621C>A (p.Thr207=) c.333C>A (p.Thr111=) c.*2333C>A (n.*2333C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644471C= | CA1347663752 | BTD | c.555C= (p.Thr185=) c.399+2414C= (n.399+2414C=) c.165+2414C= (n.165+2414C=) c.615C= (p.Thr205=) c.621C= (p.Thr207=) c.333C= (p.Thr111=) c.*2333C= (n.*2333C=) | |
| 3 | g.15644471C>G | CA432819314 | BTD | c.555C>G (p.Thr185=) c.399+2414C>G (n.399+2414C>G) c.165+2414C>G (n.165+2414C>G) c.615C>G (p.Thr205=) c.621C>G (p.Thr207=) c.333C>G (p.Thr111=) c.*2333C>G (n.*2333C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644471C>T | CA432819315 | BTD | c.555C>T (p.Thr185=) c.399+2414C>T (n.399+2414C>T) c.165+2414C>T (n.165+2414C>T) c.615C>T (p.Thr205=) c.621C>T (p.Thr207=) c.333C>T (p.Thr111=) c.*2333C>T (n.*2333C>T) | |
| 3 | g.15644472C>A | CA351606634 | BTD | c.556C>A (p.Leu186Ile) c.399+2415C>A (n.399+2415C>A) c.165+2415C>A (n.165+2415C>A) c.616C>A (p.Leu206Ile) c.622C>A (p.Leu208Ile) c.334C>A (p.Leu112Ile) c.*2334C>A (n.*2334C>A) | |
| 3 | g.15644472C>G | CA351606632 | BTD | c.556C>G (p.Leu186Val) c.399+2415C>G (n.399+2415C>G) c.165+2415C>G (n.165+2415C>G) c.616C>G (p.Leu206Val) c.622C>G (p.Leu208Val) c.334C>G (p.Leu112Val) c.*2334C>G (n.*2334C>G) | |
| 3 | g.15644472C>T | CA351606631 | BTD | c.556C>T (p.Leu186Phe) c.399+2415C>T (n.399+2415C>T) c.165+2415C>T (n.165+2415C>T) c.616C>T (p.Leu206Phe) c.622C>T (p.Leu208Phe) c.334C>T (p.Leu112Phe) c.*2334C>T (n.*2334C>T) | |
| 3 | g.15644472_15644475del | CA913102312 | BTD | c.556_559del (p.Val187ThrfsTer?) c.399+2415_399+2418del (n.399+2415_399+2418del) c.165+2415_165+2418del (n.165+2415_165+2418del) c.616_619del (p.Val207ThrfsTer?) c.622_625del (p.Val209ThrfsTer?) c.334_337del (p.Val113ThrfsTer?) c.*2334_*2337del (n.*2334_*2337del) | |
| 3 | g.15644472_15644475delinsCTTG | CA1347663757 | BTD | c.556_559delinsCTTG (p.Leu186=) c.399+2415_399+2418delinsCTTG (n.399+2415_399+2418delinsCTTG) c.165+2415_165+2418delinsCTTG (n.165+2415_165+2418delinsCTTG) c.616_619delinsCTTG (p.Leu206=) c.622_625delinsCTTG (p.Leu208=) c.334_337delinsCTTG (p.Leu112=) c.*2334_*2337delinsCTTG (n.*2334_*2337delinsCTTG) | |
| 3 | g.15644473T>A | CA351606636 | BTD | c.557T>A (p.Leu186His) c.399+2416T>A (n.399+2416T>A) c.165+2416T>A (n.165+2416T>A) c.617T>A (p.Leu206His) c.623T>A (p.Leu208His) c.335T>A (p.Leu112His) c.*2335T>A (n.*2335T>A) | |
| 3 | g.15644473T>C | CA351606638 | BTD | c.557T>C (p.Leu186Pro) c.399+2416T>C (n.399+2416T>C) c.165+2416T>C (n.165+2416T>C) c.617T>C (p.Leu206Pro) c.623T>C (p.Leu208Pro) c.335T>C (p.Leu112Pro) c.*2335T>C (n.*2335T>C) | |
| 3 | g.15644473T>G | CA351606639 | BTD | c.557T>G (p.Leu186Arg) c.399+2416T>G (n.399+2416T>G) c.165+2416T>G (n.165+2416T>G) c.617T>G (p.Leu206Arg) c.623T>G (p.Leu208Arg) c.335T>G (p.Leu112Arg) c.*2335T>G (n.*2335T>G) | ClinVar |
| 3 | g.15644476_15644478del | CA658822115 | BTD | c.560_562del (p.Val187del) c.399+2419_399+2421del (n.399+2419_399+2421del) c.165+2419_165+2421del (n.165+2419_165+2421del) c.620_622del (p.Val207del) c.626_628del (p.Val209del) c.338_340del (p.Val113del) c.*2338_*2340del (n.*2338_*2340del) | ClinVar dbSNP |
| 3 | g.15644474T>A | CA432819320 | BTD | c.558T>A (p.Leu186=) c.399+2417T>A (n.399+2417T>A) c.165+2417T>A (n.165+2417T>A) c.618T>A (p.Leu206=) c.624T>A (p.Leu208=) c.336T>A (p.Leu112=) c.*2336T>A (n.*2336T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644474T>C | CA432819321 | BTD | c.558T>C (p.Leu186=) c.399+2417T>C (n.399+2417T>C) c.165+2417T>C (n.165+2417T>C) c.618T>C (p.Leu206=) c.624T>C (p.Leu208=) c.336T>C (p.Leu112=) c.*2336T>C (n.*2336T>C) | |
| 3 | g.15644474T>G | CA432819322 | BTD | c.558T>G (p.Leu186=) c.399+2417T>G (n.399+2417T>G) c.165+2417T>G (n.165+2417T>G) c.618T>G (p.Leu206=) c.624T>G (p.Leu208=) c.336T>G (p.Leu112=) c.*2336T>G (n.*2336T>G) | |
| 3 | g.15644474T= | CA1347663761 | BTD | c.558T= (p.Leu186=) c.399+2417T= (n.399+2417T=) c.165+2417T= (n.165+2417T=) c.618T= (p.Leu206=) c.624T= (p.Leu208=) c.336T= (p.Leu112=) c.*2336T= (n.*2336T=) | |
| 3 | g.15644475G>A | CA351606642 | BTD | c.559G>A (p.Val187Ile) c.399+2418G>A (n.399+2418G>A) c.165+2418G>A (n.165+2418G>A) c.619G>A (p.Val207Ile) c.625G>A (p.Val209Ile) c.337G>A (p.Val113Ile) c.*2337G>A (n.*2337G>A) | dbSNP |
| 3 | g.15644475G>C | CA351606643 | BTD | c.559G>C (p.Val187Leu) c.399+2418G>C (n.399+2418G>C) c.165+2418G>C (n.165+2418G>C) c.619G>C (p.Val207Leu) c.625G>C (p.Val209Leu) c.337G>C (p.Val113Leu) c.*2337G>C (n.*2337G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644475G= | CA1347663766 | BTD | c.559G= (p.Val187=) c.399+2418G= (n.399+2418G=) c.165+2418G= (n.165+2418G=) c.619G= (p.Val207=) c.625G= (p.Val209=) c.337G= (p.Val113=) c.*2337G= (n.*2337G=) | |
| 3 | g.15644475G>T | CA351606645 | BTD | c.559G>T (p.Val187Phe) c.399+2418G>T (n.399+2418G>T) c.165+2418G>T (n.165+2418G>T) c.619G>T (p.Val207Phe) c.625G>T (p.Val209Phe) c.337G>T (p.Val113Phe) c.*2337G>T (n.*2337G>T) | |
| 3 | g.15644476T>A | CA351606648 | BTD | c.560T>A (p.Val187Asp) c.399+2419T>A (n.399+2419T>A) c.165+2419T>A (n.165+2419T>A) c.620T>A (p.Val207Asp) c.626T>A (p.Val209Asp) c.338T>A (p.Val113Asp) c.*2338T>A (n.*2338T>A) | |
| 3 | g.15644476T>C | CA351606651 | BTD | c.560T>C (p.Val187Ala) c.399+2419T>C (n.399+2419T>C) c.165+2419T>C (n.165+2419T>C) c.620T>C (p.Val207Ala) c.626T>C (p.Val209Ala) c.338T>C (p.Val113Ala) c.*2338T>C (n.*2338T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644476T>G | CA351606649 | BTD | c.560T>G (p.Val187Gly) c.399+2419T>G (n.399+2419T>G) c.165+2419T>G (n.165+2419T>G) c.620T>G (p.Val207Gly) c.626T>G (p.Val209Gly) c.338T>G (p.Val113Gly) c.*2338T>G (n.*2338T>G) | |
| 3 | g.15644476T= | CA1347663769 | BTD | c.560T= (p.Val187=) c.399+2419T= (n.399+2419T=) c.165+2419T= (n.165+2419T=) c.620T= (p.Val207=) c.626T= (p.Val209=) c.338T= (p.Val113=) c.*2338T= (n.*2338T=) | |
| 3 | g.15644477del | CA2586971764 | BTD | c.561del (p.Asp188ThrfsTer?) c.399+2420del (n.399+2420del) c.165+2420del (n.165+2420del) c.621del (p.Asp208ThrfsTer?) c.627del (p.Asp210ThrfsTer?) c.339del (p.Asp114ThrfsTer?) c.*2339del (n.*2339del) | |
| 3 | g.15644477T>A | CA432819331 | BTD | c.561T>A (p.Val187=) c.399+2420T>A (n.399+2420T>A) c.165+2420T>A (n.165+2420T>A) c.621T>A (p.Val207=) c.627T>A (p.Val209=) c.339T>A (p.Val113=) c.*2339T>A (n.*2339T>A) | |
| 3 | g.15644477T>C | CA432819330 | BTD | c.561T>C (p.Val187=) c.399+2420T>C (n.399+2420T>C) c.165+2420T>C (n.165+2420T>C) c.621T>C (p.Val207=) c.627T>C (p.Val209=) c.339T>C (p.Val113=) c.*2339T>C (n.*2339T>C) | |
| 3 | g.15644477T>G | CA432819329 | BTD | c.561T>G (p.Val187=) c.399+2420T>G (n.399+2420T>G) c.165+2420T>G (n.165+2420T>G) c.621T>G (p.Val207=) c.627T>G (p.Val209=) c.339T>G (p.Val113=) c.*2339T>G (n.*2339T>G) | |
| 3 | g.15644478G>A | CA351606654 | BTD | c.562G>A (p.Asp188Asn) c.399+2421G>A (n.399+2421G>A) c.165+2421G>A (n.165+2421G>A) c.622G>A (p.Asp208Asn) c.628G>A (p.Asp210Asn) c.340G>A (p.Asp114Asn) c.*2340G>A (n.*2340G>A) | |
| 3 | g.15644478G>C | CA351606655 | BTD | c.562G>C (p.Asp188His) c.399+2421G>C (n.399+2421G>C) c.165+2421G>C (n.165+2421G>C) c.622G>C (p.Asp208His) c.628G>C (p.Asp210His) c.340G>C (p.Asp114His) c.*2340G>C (n.*2340G>C) | |
| 3 | g.15644478G>T | CA351606657 | BTD | c.562G>T (p.Asp188Tyr) c.399+2421G>T (n.399+2421G>T) c.165+2421G>T (n.165+2421G>T) c.622G>T (p.Asp208Tyr) c.628G>T (p.Asp210Tyr) c.340G>T (p.Asp114Tyr) c.*2340G>T (n.*2340G>T) | |
| 3 | g.15644479A>C | CA351606659 | BTD | c.563A>C (p.Asp188Ala) c.399+2422A>C (n.399+2422A>C) c.165+2422A>C (n.165+2422A>C) c.623A>C (p.Asp208Ala) c.629A>C (p.Asp210Ala) c.341A>C (p.Asp114Ala) c.*2341A>C (n.*2341A>C) | |
| 3 | g.15644479A>G | CA351606661 | BTD | c.563A>G (p.Asp188Gly) c.399+2422A>G (n.399+2422A>G) c.165+2422A>G (n.165+2422A>G) c.623A>G (p.Asp208Gly) c.629A>G (p.Asp210Gly) c.341A>G (p.Asp114Gly) c.*2341A>G (n.*2341A>G) | |
| 3 | g.15644479A>T | CA351606663 | BTD | c.563A>T (p.Asp188Val) c.399+2422A>T (n.399+2422A>T) c.165+2422A>T (n.165+2422A>T) c.623A>T (p.Asp208Val) c.629A>T (p.Asp210Val) c.341A>T (p.Asp114Val) c.*2341A>T (n.*2341A>T) | |
| 3 | g.15644480C>A | CA351606665 | BTD | c.564C>A (p.Asp188Glu) c.399+2423C>A (n.399+2423C>A) c.165+2423C>A (n.165+2423C>A) c.624C>A (p.Asp208Glu) c.630C>A (p.Asp210Glu) c.342C>A (p.Asp114Glu) c.*2342C>A (n.*2342C>A) | |
| 3 | g.15644480C= | CA1347663771 | BTD | c.564C= (p.Asp188=) c.399+2423C= (n.399+2423C=) c.165+2423C= (n.165+2423C=) c.624C= (p.Asp208=) c.630C= (p.Asp210=) c.342C= (p.Asp114=) c.*2342C= (n.*2342C=) | |
| 3 | g.15644480C>G | CA351606667 | BTD | c.564C>G (p.Asp188Glu) c.399+2423C>G (n.399+2423C>G) c.165+2423C>G (n.165+2423C>G) c.624C>G (p.Asp208Glu) c.630C>G (p.Asp210Glu) c.342C>G (p.Asp114Glu) c.*2342C>G (n.*2342C>G) | |
| 3 | g.15644480C>T | CA432819337 | BTD | c.564C>T (p.Asp188=) c.399+2423C>T (n.399+2423C>T) c.165+2423C>T (n.165+2423C>T) c.624C>T (p.Asp208=) c.630C>T (p.Asp210=) c.342C>T (p.Asp114=) c.*2342C>T (n.*2342C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644481C>A | CA351606669 | BTD | c.565C>A (p.Arg189Ser) c.399+2424C>A (n.399+2424C>A) c.165+2424C>A (n.165+2424C>A) c.625C>A (p.Arg209Ser) c.631C>A (p.Arg211Ser) c.343C>A (p.Arg115Ser) c.*2343C>A (n.*2343C>A) | |
| 3 | g.15644481C= | CA1347663778 | BTD | c.565C= (p.Arg189=) c.399+2424C= (n.399+2424C=) c.165+2424C= (n.165+2424C=) c.625C= (p.Arg209=) c.631C= (p.Arg211=) c.343C= (p.Arg115=) c.*2343C= (n.*2343C=) | |
| 3 | g.15644481C>G | CA351606671 | BTD | c.565C>G (p.Arg189Gly) c.399+2424C>G (n.399+2424C>G) c.165+2424C>G (n.165+2424C>G) c.625C>G (p.Arg209Gly) c.631C>G (p.Arg211Gly) c.343C>G (p.Arg115Gly) c.*2343C>G (n.*2343C>G) | |
| 3 | g.15644481C>T | CA2277351 | BTD | c.565C>T (p.Arg189Cys) c.399+2424C>T (n.399+2424C>T) c.165+2424C>T (n.165+2424C>T) c.625C>T (p.Arg209Cys) c.631C>T (p.Arg211Cys) c.343C>T (p.Arg115Cys) c.*2343C>T (n.*2343C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.15644482G>A | CA220329 | BTD | c.566G>A (p.Arg189His) c.399+2425G>A (n.399+2425G>A) c.165+2425G>A (n.165+2425G>A) c.626G>A (p.Arg209His) c.632G>A (p.Arg211His) c.344G>A (p.Arg115His) c.*2344G>A (n.*2344G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644482G>C | CA351606676 | BTD | c.566G>C (p.Arg189Pro) c.399+2425G>C (n.399+2425G>C) c.165+2425G>C (n.165+2425G>C) c.626G>C (p.Arg209Pro) c.632G>C (p.Arg211Pro) c.344G>C (p.Arg115Pro) c.*2344G>C (n.*2344G>C) | |
| 3 | g.15644482G= | CA1347663787 | BTD | c.566G= (p.Arg189=) c.399+2425G= (n.399+2425G=) c.165+2425G= (n.165+2425G=) c.626G= (p.Arg209=) c.632G= (p.Arg211=) c.344G= (p.Arg115=) c.*2344G= (n.*2344G=) | |
| 3 | g.15644482G>T | CA351606675 | BTD | c.566G>T (p.Arg189Leu) c.399+2425G>T (n.399+2425G>T) c.165+2425G>T (n.165+2425G>T) c.626G>T (p.Arg209Leu) c.632G>T (p.Arg211Leu) c.344G>T (p.Arg115Leu) c.*2344G>T (n.*2344G>T) | |
| 3 | g.15644483C>A | CA432819339 | BTD | c.567C>A (p.Arg189=) c.399+2426C>A (n.399+2426C>A) c.165+2426C>A (n.165+2426C>A) c.627C>A (p.Arg209=) c.633C>A (p.Arg211=) c.345C>A (p.Arg115=) c.*2345C>A (n.*2345C>A) | |
| 3 | g.15644483C>G | CA432819341 | BTD | c.567C>G (p.Arg189=) c.399+2426C>G (n.399+2426C>G) c.165+2426C>G (n.165+2426C>G) c.627C>G (p.Arg209=) c.633C>G (p.Arg211=) c.345C>G (p.Arg115=) c.*2345C>G (n.*2345C>G) | |
| 3 | g.15644483C>T | CA432819340 | BTD | c.567C>T (p.Arg189=) c.399+2426C>T (n.399+2426C>T) c.165+2426C>T (n.165+2426C>T) c.627C>T (p.Arg209=) c.633C>T (p.Arg211=) c.345C>T (p.Arg115=) c.*2345C>T (n.*2345C>T) | |
| 3 | g.15644484T>A | CA351606679 | BTD | c.568T>A (p.Tyr190Asn) c.399+2427T>A (n.399+2427T>A) c.165+2427T>A (n.165+2427T>A) c.628T>A (p.Tyr210Asn) c.634T>A (p.Tyr212Asn) c.346T>A (p.Tyr116Asn) c.*2346T>A (n.*2346T>A) | |
| 3 | g.15644484T>C | CA351606681 | BTD | c.568T>C (p.Tyr190His) c.399+2427T>C (n.399+2427T>C) c.165+2427T>C (n.165+2427T>C) c.628T>C (p.Tyr210His) c.634T>C (p.Tyr212His) c.346T>C (p.Tyr116His) c.*2346T>C (n.*2346T>C) | |
| 3 | g.15644484T>G | CA351606683 | BTD | c.568T>G (p.Tyr190Asp) c.399+2427T>G (n.399+2427T>G) c.165+2427T>G (n.165+2427T>G) c.628T>G (p.Tyr210Asp) c.634T>G (p.Tyr212Asp) c.346T>G (p.Tyr116Asp) c.*2346T>G (n.*2346T>G) | |
| 3 | g.15644485A= | CA1347663799 | BTD | c.569A= (p.Tyr190=) c.399+2428A= (n.399+2428A=) c.165+2428A= (n.165+2428A=) c.629A= (p.Tyr210=) c.635A= (p.Tyr212=) c.347A= (p.Tyr116=) c.*2347A= (n.*2347A=) | |
| 3 | g.15644485A>C | CA351606686 | BTD | c.569A>C (p.Tyr190Ser) c.399+2428A>C (n.399+2428A>C) c.165+2428A>C (n.165+2428A>C) c.629A>C (p.Tyr210Ser) c.635A>C (p.Tyr212Ser) c.347A>C (p.Tyr116Ser) c.*2347A>C (n.*2347A>C) | |
| 3 | g.15644485A>G | CA278239 | BTD | c.569A>G (p.Tyr190Cys) c.399+2428A>G (n.399+2428A>G) c.165+2428A>G (n.165+2428A>G) c.629A>G (p.Tyr210Cys) c.635A>G (p.Tyr212Cys) c.347A>G (p.Tyr116Cys) c.*2347A>G (n.*2347A>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.15644485A>T | CA351606688 | BTD | c.569A>T (p.Tyr190Phe) c.399+2428A>T (n.399+2428A>T) c.165+2428A>T (n.165+2428A>T) c.629A>T (p.Tyr210Phe) c.635A>T (p.Tyr212Phe) c.347A>T (p.Tyr116Phe) c.*2347A>T (n.*2347A>T) | |
| 3 | g.15644485_15644486delinsAC | CA1347663796 | BTD | c.569_570delinsAC (p.Tyr190=) c.399+2428_399+2429delinsAC (n.399+2428_399+2429delinsAC) c.165+2428_165+2429delinsAC (n.165+2428_165+2429delinsAC) c.629_630delinsAC (p.Tyr210=) c.635_636delinsAC (p.Tyr212=) c.347_348delinsAC (p.Tyr116=) c.*2347_*2348delinsAC (n.*2347_*2348delinsAC) | |
| 3 | g.15644486C>A | CA70621682 | BTD | c.570C>A (p.Tyr190Ter) c.399+2429C>A (n.399+2429C>A) c.165+2429C>A (n.165+2429C>A) c.630C>A (p.Tyr210Ter) c.636C>A (p.Tyr212Ter) c.348C>A (p.Tyr116Ter) c.*2348C>A (n.*2348C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644486C= | CA1347663806 | BTD | c.570C= (p.Tyr190=) c.399+2429C= (n.399+2429C=) c.165+2429C= (n.165+2429C=) c.630C= (p.Tyr210=) c.636C= (p.Tyr212=) c.348C= (p.Tyr116=) c.*2348C= (n.*2348C=) | |
| 3 | g.15644486C>G | CA351606691 | BTD | c.570C>G (p.Tyr190Ter) c.399+2429C>G (n.399+2429C>G) c.165+2429C>G (n.165+2429C>G) c.630C>G (p.Tyr210Ter) c.636C>G (p.Tyr212Ter) c.348C>G (p.Tyr116Ter) c.*2348C>G (n.*2348C>G) | |
| 3 | g.15644486C>T | CA432819343 | BTD | c.570C>T (p.Tyr190=) c.399+2429C>T (n.399+2429C>T) c.165+2429C>T (n.165+2429C>T) c.630C>T (p.Tyr210=) c.636C>T (p.Tyr212=) c.348C>T (p.Tyr116=) c.*2348C>T (n.*2348C>T) | |
| 3 | g.15644487del | CA658761152 | BTD | c.571del (p.Arg191ValfsTer?) c.399+2430del (n.399+2430del) c.165+2430del (n.165+2430del) c.631del (p.Arg211ValfsTer?) c.637del (p.Arg213ValfsTer?) c.349del (p.Arg117ValfsTer?) c.*2349del (n.*2349del) | |
| 3 | g.15644487C>A | CA351606694 | BTD | c.571C>A (p.Arg191Ser) c.399+2430C>A (n.399+2430C>A) c.165+2430C>A (n.165+2430C>A) c.631C>A (p.Arg211Ser) c.637C>A (p.Arg213Ser) c.349C>A (p.Arg117Ser) c.*2349C>A (n.*2349C>A) | |
| 3 | g.15644487C= | CA1347663810 | BTD | c.571C= (p.Arg191=) c.399+2430C= (n.399+2430C=) c.165+2430C= (n.165+2430C=) c.631C= (p.Arg211=) c.637C= (p.Arg213=) c.349C= (p.Arg117=) c.*2349C= (n.*2349C=) | |
| 3 | g.15644487C>G | CA351606696 | BTD | c.571C>G (p.Arg191Gly) c.399+2430C>G (n.399+2430C>G) c.165+2430C>G (n.165+2430C>G) c.631C>G (p.Arg211Gly) c.637C>G (p.Arg213Gly) c.349C>G (p.Arg117Gly) c.*2349C>G (n.*2349C>G) | |
| 3 | g.15644487C>T | CA278241 | BTD | c.571C>T (p.Arg191Cys) c.399+2430C>T (n.399+2430C>T) c.165+2430C>T (n.165+2430C>T) c.631C>T (p.Arg211Cys) c.637C>T (p.Arg213Cys) c.349C>T (p.Arg117Cys) c.*2349C>T (n.*2349C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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) | |
| 3 | g.15644501C>T | CA145713 | BTD | c.585C>T (p.Leu195=) c.399+2444C>T (n.399+2444C>T) c.165+2444C>T (n.165+2444C>T) c.645C>T (p.Leu215=) c.651C>T (p.Leu217=) c.363C>T (p.Leu121=) c.*2363C>T (n.*2363C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644502T>A | CA351606747 | BTD | c.586T>A (p.Tyr196Asn) c.399+2445T>A (n.399+2445T>A) c.165+2445T>A (n.165+2445T>A) c.646T>A (p.Tyr216Asn) c.652T>A (p.Tyr218Asn) c.364T>A (p.Tyr122Asn) c.*2364T>A (n.*2364T>A) | |
| 3 | g.15644502T>C | CA351606746 | BTD | c.586T>C (p.Tyr196His) c.399+2445T>C (n.399+2445T>C) c.165+2445T>C (n.165+2445T>C) c.646T>C (p.Tyr216His) c.652T>C (p.Tyr218His) c.364T>C (p.Tyr122His) c.*2364T>C (n.*2364T>C) | |
| 3 | g.15644502T>G | CA351606745 | BTD | c.586T>G (p.Tyr196Asp) c.399+2445T>G (n.399+2445T>G) c.165+2445T>G (n.165+2445T>G) c.646T>G (p.Tyr216Asp) c.652T>G (p.Tyr218Asp) c.364T>G (p.Tyr122Asp) c.*2364T>G (n.*2364T>G) | |
| 3 | g.15644502T= | CA1347663868 | BTD | c.586T= (p.Tyr196=) c.399+2445T= (n.399+2445T=) c.165+2445T= (n.165+2445T=) c.646T= (p.Tyr216=) c.652T= (p.Tyr218=) c.364T= (p.Tyr122=) c.*2364T= (n.*2364T=) | |
| 3 | g.15644503A>C | CA351606748 | BTD | c.587A>C (p.Tyr196Ser) c.399+2446A>C (n.399+2446A>C) c.165+2446A>C (n.165+2446A>C) c.647A>C (p.Tyr216Ser) c.653A>C (p.Tyr218Ser) c.365A>C (p.Tyr122Ser) c.*2365A>C (n.*2365A>C) | |
| 3 | g.15644503A>G | CA351606749 | BTD | c.587A>G (p.Tyr196Cys) c.399+2446A>G (n.399+2446A>G) c.165+2446A>G (n.165+2446A>G) c.647A>G (p.Tyr216Cys) c.653A>G (p.Tyr218Cys) c.365A>G (p.Tyr122Cys) c.*2365A>G (n.*2365A>G) | |
| 3 | g.15644503A>T | CA351606750 | BTD | c.587A>T (p.Tyr196Phe) c.399+2446A>T (n.399+2446A>T) c.165+2446A>T (n.165+2446A>T) c.647A>T (p.Tyr216Phe) c.653A>T (p.Tyr218Phe) c.365A>T (p.Tyr122Phe) c.*2365A>T (n.*2365A>T) | gnomAD v4 |
| 3 | g.15644504C>A | CA351606751 | BTD | c.588C>A (p.Tyr196Ter) c.399+2447C>A (n.399+2447C>A) c.165+2447C>A (n.165+2447C>A) c.648C>A (p.Tyr216Ter) c.654C>A (p.Tyr218Ter) c.366C>A (p.Tyr122Ter) c.*2366C>A (n.*2366C>A) | dbSNP |
| 3 | g.15644504C= | CA1347663871 | BTD | c.588C= (p.Tyr196=) c.399+2447C= (n.399+2447C=) c.165+2447C= (n.165+2447C=) c.648C= (p.Tyr216=) c.654C= (p.Tyr218=) c.366C= (p.Tyr122=) c.*2366C= (n.*2366C=) | |
| 3 | g.15644504C>G | CA351606752 | BTD | c.588C>G (p.Tyr196Ter) c.399+2447C>G (n.399+2447C>G) c.165+2447C>G (n.165+2447C>G) c.648C>G (p.Tyr216Ter) c.654C>G (p.Tyr218Ter) c.366C>G (p.Tyr122Ter) c.*2366C>G (n.*2366C>G) | ClinVar dbSNP |
| 3 | g.15644504C>T | CA432819361 | BTD | c.588C>T (p.Tyr196=) c.399+2447C>T (n.399+2447C>T) c.165+2447C>T (n.165+2447C>T) c.648C>T (p.Tyr216=) c.654C>T (p.Tyr218=) c.366C>T (p.Tyr122=) c.*2366C>T (n.*2366C>T) | |
| 3 | g.15644504_15644507delinsCTTT | CA1347663873 | BTD | c.588_591delinsCTTT (p.Tyr196=) c.399+2447_399+2450delinsCTTT (n.399+2447_399+2450delinsCTTT) c.165+2447_165+2450delinsCTTT (n.165+2447_165+2450delinsCTTT) c.648_651delinsCTTT (p.Tyr216=) c.654_657delinsCTTT (p.Tyr218=) c.366_369delinsCTTT (p.Tyr122=) c.*2366_*2369delinsCTTT (n.*2366_*2369delinsCTTT) | |
| 3 | g.15644504_15644505insA | CA541677859 | BTD | c.588_589insA (p.Phe197IlefsTer2) c.399+2447_399+2448insA (n.399+2447_399+2448insA) c.165+2447_165+2448insA (n.165+2447_165+2448insA) c.648_649insA (p.Phe217IlefsTer2) c.654_655insA (p.Phe219IlefsTer2) c.366_367insA (p.Phe123IlefsTer2) c.*2366_*2367insA (n.*2366_*2367insA) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644505T>A | CA351606753 | BTD | c.589T>A (p.Phe197Ile) c.399+2448T>A (n.399+2448T>A) c.165+2448T>A (n.165+2448T>A) c.649T>A (p.Phe217Ile) c.655T>A (p.Phe219Ile) c.367T>A (p.Phe123Ile) c.*2367T>A (n.*2367T>A) | |
| 3 | g.15644505T>C | CA351606754 | BTD | c.589T>C (p.Phe197Leu) c.399+2448T>C (n.399+2448T>C) c.165+2448T>C (n.165+2448T>C) c.649T>C (p.Phe217Leu) c.655T>C (p.Phe219Leu) c.367T>C (p.Phe123Leu) c.*2367T>C (n.*2367T>C) | |
| 3 | g.15644505T>G | CA351606755 | BTD | c.589T>G (p.Phe197Val) c.399+2448T>G (n.399+2448T>G) c.165+2448T>G (n.165+2448T>G) c.649T>G (p.Phe217Val) c.655T>G (p.Phe219Val) c.367T>G (p.Phe123Val) c.*2367T>G (n.*2367T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644505T= | CA1347663878 | BTD | c.589T= (p.Phe197=) c.399+2448T= (n.399+2448T=) c.165+2448T= (n.165+2448T=) c.649T= (p.Phe217=) c.655T= (p.Phe219=) c.367T= (p.Phe123=) c.*2367T= (n.*2367T=) | |
| 3 | g.15644505_15644507delinsAGTA | CA658822116 | BTD | c.589_591delinsAGTA (p.Phe197SerfsTer10) c.399+2448_399+2450delinsAGTA (n.399+2448_399+2450delinsAGTA) c.165+2448_165+2450delinsAGTA (n.165+2448_165+2450delinsAGTA) c.649_651delinsAGTA (p.Phe217SerfsTer10) c.655_657delinsAGTA (p.Phe219SerfsTer10) c.367_369delinsAGTA (p.Phe123SerfsTer10) c.*2367_*2369delinsAGTA (n.*2367_*2369delinsAGTA) | ClinVar dbSNP |
| 3 | g.15644506T>A | CA351606756 | BTD | c.590T>A (p.Phe197Tyr) c.399+2449T>A (n.399+2449T>A) c.165+2449T>A (n.165+2449T>A) c.650T>A (p.Phe217Tyr) c.656T>A (p.Phe219Tyr) c.368T>A (p.Phe123Tyr) c.*2368T>A (n.*2368T>A) | |
| 3 | g.15644506T>C | CA351606757 | BTD | c.590T>C (p.Phe197Ser) c.399+2449T>C (n.399+2449T>C) c.165+2449T>C (n.165+2449T>C) c.650T>C (p.Phe217Ser) c.656T>C (p.Phe219Ser) c.368T>C (p.Phe123Ser) c.*2368T>C (n.*2368T>C) | gnomAD v4 |
| 3 | g.15644506T>G | CA351606758 | BTD | c.590T>G (p.Phe197Cys) c.399+2449T>G (n.399+2449T>G) c.165+2449T>G (n.165+2449T>G) c.650T>G (p.Phe217Cys) c.656T>G (p.Phe219Cys) c.368T>G (p.Phe123Cys) c.*2368T>G (n.*2368T>G) | |
| 3 | g.15644507T>A | CA351606759 | BTD | c.591T>A (p.Phe197Leu) c.399+2450T>A (n.399+2450T>A) c.165+2450T>A (n.165+2450T>A) c.651T>A (p.Phe217Leu) c.657T>A (p.Phe219Leu) c.369T>A (p.Phe123Leu) c.*2369T>A (n.*2369T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644507T>C | CA432819363 | BTD | c.591T>C (p.Phe197=) c.399+2450T>C (n.399+2450T>C) c.165+2450T>C (n.165+2450T>C) c.651T>C (p.Phe217=) c.657T>C (p.Phe219=) c.369T>C (p.Phe123=) c.*2369T>C (n.*2369T>C) | |
| 3 | g.15644507T>G | CA2277355 | BTD | c.591T>G (p.Phe197Leu) c.399+2450T>G (n.399+2450T>G) c.165+2450T>G (n.165+2450T>G) c.651T>G (p.Phe217Leu) c.657T>G (p.Phe219Leu) c.369T>G (p.Phe123Leu) c.*2369T>G (n.*2369T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644507T= | CA1347663882 | BTD | c.591T= (p.Phe197=) c.399+2450T= (n.399+2450T=) c.165+2450T= (n.165+2450T=) c.651T= (p.Phe217=) c.657T= (p.Phe219=) c.369T= (p.Phe123=) c.*2369T= (n.*2369T=) | |
| 3 | g.15644508G>A | CA351606761 | BTD | c.592G>A (p.Glu198Lys) c.399+2451G>A (n.399+2451G>A) c.165+2451G>A (n.165+2451G>A) c.652G>A (p.Glu218Lys) c.658G>A (p.Glu220Lys) c.370G>A (p.Glu124Lys) c.*2370G>A (n.*2370G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644508G>C | CA278245 | BTD | c.592G>C (p.Glu198Gln) c.399+2451G>C (n.399+2451G>C) c.165+2451G>C (n.165+2451G>C) c.652G>C (p.Glu218Gln) c.658G>C (p.Glu220Gln) c.370G>C (p.Glu124Gln) c.*2370G>C (n.*2370G>C) | dbSNP |
| 3 | g.15644508G= | CA1347663889 | BTD | c.592G= (p.Glu198=) c.399+2451G= (n.399+2451G=) c.165+2451G= (n.165+2451G=) c.652G= (p.Glu218=) c.658G= (p.Glu220=) c.370G= (p.Glu124=) c.*2370G= (n.*2370G=) | |
| 3 | g.15644508G>T | CA351606760 | BTD | c.592G>T (p.Glu198Ter) c.399+2451G>T (n.399+2451G>T) c.165+2451G>T (n.165+2451G>T) c.652G>T (p.Glu218Ter) c.658G>T (p.Glu220Ter) c.370G>T (p.Glu124Ter) c.*2370G>T (n.*2370G>T) | |
| 3 | g.15644509A>C | CA351606762 | BTD | c.593A>C (p.Glu198Ala) c.399+2452A>C (n.399+2452A>C) c.165+2452A>C (n.165+2452A>C) c.653A>C (p.Glu218Ala) c.659A>C (p.Glu220Ala) c.371A>C (p.Glu124Ala) c.*2371A>C (n.*2371A>C) | |
| 3 | g.15644509A>G | CA351606764 | BTD | c.593A>G (p.Glu198Gly) c.399+2452A>G (n.399+2452A>G) c.165+2452A>G (n.165+2452A>G) c.653A>G (p.Glu218Gly) c.659A>G (p.Glu220Gly) c.371A>G (p.Glu124Gly) c.*2371A>G (n.*2371A>G) | |
| 3 | g.15644509A>T | CA351606763 | BTD | c.593A>T (p.Glu198Val) c.399+2452A>T (n.399+2452A>T) c.165+2452A>T (n.165+2452A>T) c.653A>T (p.Glu218Val) c.659A>T (p.Glu220Val) c.371A>T (p.Glu124Val) c.*2371A>T (n.*2371A>T) | |
| 3 | g.15644510G>A | CA2277356 | BTD | c.594G>A (p.Glu198=) c.399+2453G>A (n.399+2453G>A) c.165+2453G>A (n.165+2453G>A) c.654G>A (p.Glu218=) c.660G>A (p.Glu220=) c.372G>A (p.Glu124=) c.*2372G>A (n.*2372G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644510G>C | CA278247 | BTD | c.594G>C (p.Glu198Asp) c.399+2453G>C (n.399+2453G>C) c.165+2453G>C (n.165+2453G>C) c.654G>C (p.Glu218Asp) c.660G>C (p.Glu220Asp) c.372G>C (p.Glu124Asp) c.*2372G>C (n.*2372G>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.15644510G= | CA1347663893 | BTD | c.594G= (p.Glu198=) c.399+2453G= (n.399+2453G=) c.165+2453G= (n.165+2453G=) c.654G= (p.Glu218=) c.660G= (p.Glu220=) c.372G= (p.Glu124=) c.*2372G= (n.*2372G=) | |
| 3 | g.15644510G>T | CA351606765 | BTD | c.594G>T (p.Glu198Asp) c.399+2453G>T (n.399+2453G>T) c.165+2453G>T (n.165+2453G>T) c.654G>T (p.Glu218Asp) c.660G>T (p.Glu220Asp) c.372G>T (p.Glu124Asp) c.*2372G>T (n.*2372G>T) | |
| 3 | g.15644511G>A | CA351606766 | BTD | c.595G>A (p.Ala199Thr) c.399+2454G>A (n.399+2454G>A) c.165+2454G>A (n.165+2454G>A) c.655G>A (p.Ala219Thr) c.661G>A (p.Ala221Thr) c.373G>A (p.Ala125Thr) c.*2373G>A (n.*2373G>A) | |
| 3 | g.15644511G>C | CA351606768 | BTD | c.595G>C (p.Ala199Pro) c.399+2454G>C (n.399+2454G>C) c.165+2454G>C (n.165+2454G>C) c.655G>C (p.Ala219Pro) c.661G>C (p.Ala221Pro) c.373G>C (p.Ala125Pro) c.*2373G>C (n.*2373G>C) | |
| 3 | g.15644511G>T | CA351606767 | BTD | c.595G>T (p.Ala199Ser) c.399+2454G>T (n.399+2454G>T) c.165+2454G>T (n.165+2454G>T) c.655G>T (p.Ala219Ser) c.661G>T (p.Ala221Ser) c.373G>T (p.Ala125Ser) c.*2373G>T (n.*2373G>T) | |
| 3 | g.15644512C>A | CA351606769 | BTD | c.596C>A (p.Ala199Glu) c.399+2455C>A (n.399+2455C>A) c.165+2455C>A (n.165+2455C>A) c.656C>A (p.Ala219Glu) c.662C>A (p.Ala221Glu) c.374C>A (p.Ala125Glu) c.*2374C>A (n.*2374C>A) | |
| 3 | g.15644512C= | CA1347663899 | BTD | c.596C= (p.Ala199=) c.399+2455C= (n.399+2455C=) c.165+2455C= (n.165+2455C=) c.656C= (p.Ala219=) c.662C= (p.Ala221=) c.374C= (p.Ala125=) c.*2374C= (n.*2374C=) | |
| 3 | g.15644512C>G | CA351606771 | BTD | c.596C>G (p.Ala199Gly) c.399+2455C>G (n.399+2455C>G) c.165+2455C>G (n.165+2455C>G) c.656C>G (p.Ala219Gly) c.662C>G (p.Ala221Gly) c.374C>G (p.Ala125Gly) c.*2374C>G (n.*2374C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644512C>T | CA351606770 | BTD | c.596C>T (p.Ala199Val) c.399+2455C>T (n.399+2455C>T) c.165+2455C>T (n.165+2455C>T) c.656C>T (p.Ala219Val) c.662C>T (p.Ala221Val) c.374C>T (p.Ala125Val) c.*2374C>T (n.*2374C>T) | |
| 3 | g.15644513A= | CA1347663902 | BTD | c.597A= (p.Ala199=) c.399+2456A= (n.399+2456A=) c.165+2456A= (n.165+2456A=) c.657A= (p.Ala219=) c.663A= (p.Ala221=) c.375A= (p.Ala125=) c.*2375A= (n.*2375A=) | |
| 3 | g.15644513A>C | CA432819369 | BTD | c.597A>C (p.Ala199=) c.399+2456A>C (n.399+2456A>C) c.165+2456A>C (n.165+2456A>C) c.657A>C (p.Ala219=) c.663A>C (p.Ala221=) c.375A>C (p.Ala125=) c.*2375A>C (n.*2375A>C) | |
| 3 | g.15644513A>G | CA432819370 | BTD | c.597A>G (p.Ala199=) c.399+2456A>G (n.399+2456A>G) c.165+2456A>G (n.165+2456A>G) c.657A>G (p.Ala219=) c.663A>G (p.Ala221=) c.375A>G (p.Ala125=) c.*2375A>G (n.*2375A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644513A>T | CA432819371 | BTD | c.597A>T (p.Ala199=) c.399+2456A>T (n.399+2456A>T) c.165+2456A>T (n.165+2456A>T) c.657A>T (p.Ala219=) c.663A>T (p.Ala221=) c.375A>T (p.Ala125=) c.*2375A>T (n.*2375A>T) | |
| 3 | g.15644514G>A | CA351606772 | BTD | c.598G>A (p.Ala200Thr) c.399+2457G>A (n.399+2457G>A) c.165+2457G>A (n.165+2457G>A) c.658G>A (p.Ala220Thr) c.664G>A (p.Ala222Thr) c.376G>A (p.Ala126Thr) c.*2376G>A (n.*2376G>A) | |
| 3 | g.15644514G>C | CA351606773 | BTD | c.598G>C (p.Ala200Pro) c.399+2457G>C (n.399+2457G>C) c.165+2457G>C (n.165+2457G>C) c.658G>C (p.Ala220Pro) c.664G>C (p.Ala222Pro) c.376G>C (p.Ala126Pro) c.*2376G>C (n.*2376G>C) | |
| 3 | g.15644514G>T | CA351606774 | BTD | c.598G>T (p.Ala200Ser) c.399+2457G>T (n.399+2457G>T) c.165+2457G>T (n.165+2457G>T) c.658G>T (p.Ala220Ser) c.664G>T (p.Ala222Ser) c.376G>T (p.Ala126Ser) c.*2376G>T (n.*2376G>T) | |
| 3 | g.15644515C>A | CA351606775 | BTD | c.599C>A (p.Ala200Glu) c.399+2458C>A (n.399+2458C>A) c.165+2458C>A (n.165+2458C>A) c.659C>A (p.Ala220Glu) c.665C>A (p.Ala222Glu) c.377C>A (p.Ala126Glu) c.*2377C>A (n.*2377C>A) | gnomAD v4 |
| 3 | g.15644515C>G | CA351606776 | BTD | c.599C>G (p.Ala200Gly) c.399+2458C>G (n.399+2458C>G) c.165+2458C>G (n.165+2458C>G) c.659C>G (p.Ala220Gly) c.665C>G (p.Ala222Gly) c.377C>G (p.Ala126Gly) c.*2377C>G (n.*2377C>G) | |
| 3 | g.15644515C>T | CA351606777 | BTD | c.599C>T (p.Ala200Val) c.399+2458C>T (n.399+2458C>T) c.165+2458C>T (n.165+2458C>T) c.659C>T (p.Ala220Val) c.665C>T (p.Ala222Val) c.377C>T (p.Ala126Val) c.*2377C>T (n.*2377C>T) | |
| 3 | g.15644516A= | CA1347663906 | BTD | c.600A= (p.Ala200=) c.399+2459A= (n.399+2459A=) c.165+2459A= (n.165+2459A=) c.660A= (p.Ala220=) c.666A= (p.Ala222=) c.378A= (p.Ala126=) c.*2378A= (n.*2378A=) | |
| 3 | g.15644516A>C | CA432819375 | BTD | c.600A>C (p.Ala200=) c.399+2459A>C (n.399+2459A>C) c.165+2459A>C (n.165+2459A>C) c.660A>C (p.Ala220=) c.666A>C (p.Ala222=) c.378A>C (p.Ala126=) c.*2378A>C (n.*2378A>C) | |
| 3 | g.15644516A>G | CA2277357 | BTD | c.600A>G (p.Ala200=) c.399+2459A>G (n.399+2459A>G) c.165+2459A>G (n.165+2459A>G) c.660A>G (p.Ala220=) c.666A>G (p.Ala222=) c.378A>G (p.Ala126=) c.*2378A>G (n.*2378A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644516A>T | CA432819376 | BTD | c.600A>T (p.Ala200=) c.399+2459A>T (n.399+2459A>T) c.165+2459A>T (n.165+2459A>T) c.660A>T (p.Ala220=) c.666A>T (p.Ala222=) c.378A>T (p.Ala126=) c.*2378A>T (n.*2378A>T) | |
| 3 | g.15644517T>A | CA351606778 | BTD | c.601T>A (p.Phe201Ile) c.399+2460T>A (n.399+2460T>A) c.165+2460T>A (n.165+2460T>A) c.661T>A (p.Phe221Ile) c.667T>A (p.Phe223Ile) c.379T>A (p.Phe127Ile) c.*2379T>A (n.*2379T>A) | |
| 3 | g.15644517T>C | CA351606779 | BTD | c.601T>C (p.Phe201Leu) c.399+2460T>C (n.399+2460T>C) c.165+2460T>C (n.165+2460T>C) c.661T>C (p.Phe221Leu) c.667T>C (p.Phe223Leu) c.379T>C (p.Phe127Leu) c.*2379T>C (n.*2379T>C) | |
| 3 | g.15644517T>G | CA351606780 | BTD | c.601T>G (p.Phe201Val) c.399+2460T>G (n.399+2460T>G) c.165+2460T>G (n.165+2460T>G) c.661T>G (p.Phe221Val) c.667T>G (p.Phe223Val) c.379T>G (p.Phe127Val) c.*2379T>G (n.*2379T>G) | |
| 3 | g.15644518T>A | CA351606781 | BTD | c.602T>A (p.Phe201Tyr) c.399+2461T>A (n.399+2461T>A) c.165+2461T>A (n.165+2461T>A) c.662T>A (p.Phe221Tyr) c.668T>A (p.Phe223Tyr) c.380T>A (p.Phe127Tyr) c.*2380T>A (n.*2380T>A) | |
| 3 | g.15644518T>C | CA351606782 | BTD | c.602T>C (p.Phe201Ser) c.399+2461T>C (n.399+2461T>C) c.165+2461T>C (n.165+2461T>C) c.662T>C (p.Phe221Ser) c.668T>C (p.Phe223Ser) c.380T>C (p.Phe127Ser) c.*2380T>C (n.*2380T>C) | |
| 3 | g.15644518T>G | CA351606783 | BTD | c.602T>G (p.Phe201Cys) c.399+2461T>G (n.399+2461T>G) c.165+2461T>G (n.165+2461T>G) c.662T>G (p.Phe221Cys) c.668T>G (p.Phe223Cys) c.380T>G (p.Phe127Cys) c.*2380T>G (n.*2380T>G) | |
| 3 | g.15644519C>A | CA351606785 | BTD | c.603C>A (p.Phe201Leu) c.399+2462C>A (n.399+2462C>A) c.165+2462C>A (n.165+2462C>A) c.663C>A (p.Phe221Leu) c.669C>A (p.Phe223Leu) c.381C>A (p.Phe127Leu) c.*2381C>A (n.*2381C>A) | |
| 3 | g.15644519C= | CA1347663910 | BTD | c.603C= (p.Phe201=) c.399+2462C= (n.399+2462C=) c.165+2462C= (n.165+2462C=) c.663C= (p.Phe221=) c.669C= (p.Phe223=) c.381C= (p.Phe127=) c.*2381C= (n.*2381C=) | |
| 3 | g.15644519C>G | CA351606784 | BTD | c.603C>G (p.Phe201Leu) c.399+2462C>G (n.399+2462C>G) c.165+2462C>G (n.165+2462C>G) c.663C>G (p.Phe221Leu) c.669C>G (p.Phe223Leu) c.381C>G (p.Phe127Leu) c.*2381C>G (n.*2381C>G) | |
| 3 | g.15644519C>T | CA2277358 | BTD | c.603C>T (p.Phe201=) c.399+2462C>T (n.399+2462C>T) c.165+2462C>T (n.165+2462C>T) c.663C>T (p.Phe221=) c.669C>T (p.Phe223=) c.381C>T (p.Phe127=) c.*2381C>T (n.*2381C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644520G>A | CA2277359 | BTD | c.604G>A (p.Asp202Asn) c.399+2463G>A (n.399+2463G>A) c.165+2463G>A (n.165+2463G>A) c.664G>A (p.Asp222Asn) c.670G>A (p.Asp224Asn) c.382G>A (p.Asp128Asn) c.*2382G>A (n.*2382G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644520G>C | CA278366 | BTD | c.604G>C (p.Asp202His) c.399+2463G>C (n.399+2463G>C) c.165+2463G>C (n.165+2463G>C) c.664G>C (p.Asp222His) c.670G>C (p.Asp224His) c.382G>C (p.Asp128His) c.*2382G>C (n.*2382G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644520G= | CA1347663920 | BTD | c.604G= (p.Asp202=) c.399+2463G= (n.399+2463G=) c.165+2463G= (n.165+2463G=) c.664G= (p.Asp222=) c.670G= (p.Asp224=) c.382G= (p.Asp128=) c.*2382G= (n.*2382G=) | |
| 3 | g.15644520G>T | CA351606786 | BTD | c.604G>T (p.Asp202Tyr) c.399+2463G>T (n.399+2463G>T) c.165+2463G>T (n.165+2463G>T) c.664G>T (p.Asp222Tyr) c.670G>T (p.Asp224Tyr) c.382G>T (p.Asp128Tyr) c.*2382G>T (n.*2382G>T) | |
| 3 | g.15644521A= | CA1347663928 | BTD | c.605A= (p.Asp202=) c.399+2464A= (n.399+2464A=) c.165+2464A= (n.165+2464A=) c.665A= (p.Asp222=) c.671A= (p.Asp224=) c.383A= (p.Asp128=) c.*2383A= (n.*2383A=) | |
| 3 | g.15644521A>C | CA351606787 | BTD | c.605A>C (p.Asp202Ala) c.399+2464A>C (n.399+2464A>C) c.165+2464A>C (n.165+2464A>C) c.665A>C (p.Asp222Ala) c.671A>C (p.Asp224Ala) c.383A>C (p.Asp128Ala) c.*2383A>C (n.*2383A>C) | |
| 3 | g.15644521A>G | CA351606788 | BTD | c.605A>G (p.Asp202Gly) c.399+2464A>G (n.399+2464A>G) c.165+2464A>G (n.165+2464A>G) c.665A>G (p.Asp222Gly) c.671A>G (p.Asp224Gly) c.383A>G (p.Asp128Gly) c.*2383A>G (n.*2383A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644521A>T | CA351606789 | BTD | c.605A>T (p.Asp202Val) c.399+2464A>T (n.399+2464A>T) c.165+2464A>T (n.165+2464A>T) c.665A>T (p.Asp222Val) c.671A>T (p.Asp224Val) c.383A>T (p.Asp128Val) c.*2383A>T (n.*2383A>T) | |
| 3 | g.15644522T>A | CA351606790 | BTD | c.606T>A (p.Asp202Glu) c.399+2465T>A (n.399+2465T>A) c.165+2465T>A (n.165+2465T>A) c.666T>A (p.Asp222Glu) c.672T>A (p.Asp224Glu) c.384T>A (p.Asp128Glu) c.*2384T>A (n.*2384T>A) | ClinVar |
| 3 | g.15644522T>C | CA432819377 | BTD | c.606T>C (p.Asp202=) c.399+2465T>C (n.399+2465T>C) c.165+2465T>C (n.165+2465T>C) c.666T>C (p.Asp222=) c.672T>C (p.Asp224=) c.384T>C (p.Asp128=) c.*2384T>C (n.*2384T>C) | dbSNP |
| 3 | g.15644522T>G | CA351606791 | BTD | c.606T>G (p.Asp202Glu) c.399+2465T>G (n.399+2465T>G) c.165+2465T>G (n.165+2465T>G) c.666T>G (p.Asp222Glu) c.672T>G (p.Asp224Glu) c.384T>G (p.Asp128Glu) c.*2384T>G (n.*2384T>G) | |
| 3 | g.15644522T= | CA1347663930 | BTD | c.606T= (p.Asp202=) c.399+2465T= (n.399+2465T=) c.165+2465T= (n.165+2465T=) c.666T= (p.Asp222=) c.672T= (p.Asp224=) c.384T= (p.Asp128=) c.*2384T= (n.*2384T=) | |
| 3 | g.15644523G>A | CA351606792 | BTD | c.607G>A (p.Val203Ile) c.399+2466G>A (n.399+2466G>A) c.165+2466G>A (n.165+2466G>A) c.667G>A (p.Val223Ile) c.673G>A (p.Val225Ile) c.385G>A (p.Val129Ile) c.*2385G>A (n.*2385G>A) | gnomAD v4 |
| 3 | g.15644523G>C | CA351606793 | BTD | c.607G>C (p.Val203Leu) c.399+2466G>C (n.399+2466G>C) c.165+2466G>C (n.165+2466G>C) c.667G>C (p.Val223Leu) c.673G>C (p.Val225Leu) c.385G>C (p.Val129Leu) c.*2385G>C (n.*2385G>C) | |
| 3 | g.15644523G>T | CA351606794 | BTD | c.607G>T (p.Val203Phe) c.399+2466G>T (n.399+2466G>T) c.165+2466G>T (n.165+2466G>T) c.667G>T (p.Val223Phe) c.673G>T (p.Val225Phe) c.385G>T (p.Val129Phe) c.*2385G>T (n.*2385G>T) | |
| 3 | g.15644524T>A | CA351606795 | BTD | c.608T>A (p.Val203Asp) c.399+2467T>A (n.399+2467T>A) c.165+2467T>A (n.165+2467T>A) c.668T>A (p.Val223Asp) c.674T>A (p.Val225Asp) c.386T>A (p.Val129Asp) c.*2386T>A (n.*2386T>A) | |
| 3 | g.15644524T>C | CA351606796 | BTD | c.608T>C (p.Val203Ala) c.399+2467T>C (n.399+2467T>C) c.165+2467T>C (n.165+2467T>C) c.668T>C (p.Val223Ala) c.674T>C (p.Val225Ala) c.386T>C (p.Val129Ala) c.*2386T>C (n.*2386T>C) | |
| 3 | g.15644524T>G | CA351606797 | BTD | c.608T>G (p.Val203Gly) c.399+2467T>G (n.399+2467T>G) c.165+2467T>G (n.165+2467T>G) c.668T>G (p.Val223Gly) c.674T>G (p.Val225Gly) c.386T>G (p.Val129Gly) c.*2386T>G (n.*2386T>G) | |
| 3 | g.15644525T>A | CA432819379 | BTD | c.609T>A (p.Val203=) c.399+2468T>A (n.399+2468T>A) c.165+2468T>A (n.165+2468T>A) c.669T>A (p.Val223=) c.675T>A (p.Val225=) c.387T>A (p.Val129=) c.*2387T>A (n.*2387T>A) | |
| 3 | g.15644525T>C | CA432819381 | BTD | c.609T>C (p.Val203=) c.399+2468T>C (n.399+2468T>C) c.165+2468T>C (n.165+2468T>C) c.669T>C (p.Val223=) c.675T>C (p.Val225=) c.387T>C (p.Val129=) c.*2387T>C (n.*2387T>C) | COSMIC |
| 3 | g.15644525T>G | CA432819380 | BTD | c.609T>G (p.Val203=) c.399+2468T>G (n.399+2468T>G) c.165+2468T>G (n.165+2468T>G) c.669T>G (p.Val223=) c.675T>G (p.Val225=) c.387T>G (p.Val129=) c.*2387T>G (n.*2387T>G) | |
| 3 | g.15644526C>A | CA351606799 | BTD | c.610C>A (p.Pro204Thr) c.399+2469C>A (n.399+2469C>A) c.165+2469C>A (n.165+2469C>A) c.670C>A (p.Pro224Thr) c.676C>A (p.Pro226Thr) c.388C>A (p.Pro130Thr) c.*2388C>A (n.*2388C>A) | |
| 3 | g.15644526C= | CA1347663932 | BTD | c.610C= (p.Pro204=) c.399+2469C= (n.399+2469C=) c.165+2469C= (n.165+2469C=) c.670C= (p.Pro224=) c.676C= (p.Pro226=) c.388C= (p.Pro130=) c.*2388C= (n.*2388C=) | |
| 3 | g.15644526C>G | CA70621853 | BTD | c.610C>G (p.Pro204Ala) c.399+2469C>G (n.399+2469C>G) c.165+2469C>G (n.165+2469C>G) c.670C>G (p.Pro224Ala) c.676C>G (p.Pro226Ala) c.388C>G (p.Pro130Ala) c.*2388C>G (n.*2388C>G) | dbSNP gnomAD v4 |
| 3 | g.15644526C>T | CA351606798 | BTD | c.610C>T (p.Pro204Ser) c.399+2469C>T (n.399+2469C>T) c.165+2469C>T (n.165+2469C>T) c.670C>T (p.Pro224Ser) c.676C>T (p.Pro226Ser) c.388C>T (p.Pro130Ser) c.*2388C>T (n.*2388C>T) | gnomAD v4 |
| 3 | g.15644527C>A | CA351606800 | BTD | c.611C>A (p.Pro204His) c.399+2470C>A (n.399+2470C>A) c.165+2470C>A (n.165+2470C>A) c.671C>A (p.Pro224His) c.677C>A (p.Pro226His) c.389C>A (p.Pro130His) c.*2389C>A (n.*2389C>A) | |
| 3 | g.15644527C>G | CA351606801 | BTD | c.611C>G (p.Pro204Arg) c.399+2470C>G (n.399+2470C>G) c.165+2470C>G (n.165+2470C>G) c.671C>G (p.Pro224Arg) c.677C>G (p.Pro226Arg) c.389C>G (p.Pro130Arg) c.*2389C>G (n.*2389C>G) | |
| 3 | g.15644527C>T | CA351606802 | BTD | c.611C>T (p.Pro204Leu) c.399+2470C>T (n.399+2470C>T) c.165+2470C>T (n.165+2470C>T) c.671C>T (p.Pro224Leu) c.677C>T (p.Pro226Leu) c.389C>T (p.Pro130Leu) c.*2389C>T (n.*2389C>T) | |
| 3 | g.15644528T>A | CA432819383 | BTD | c.612T>A (p.Pro204=) c.399+2471T>A (n.399+2471T>A) c.165+2471T>A (n.165+2471T>A) c.672T>A (p.Pro224=) c.678T>A (p.Pro226=) c.390T>A (p.Pro130=) c.*2390T>A (n.*2390T>A) | gnomAD v4 |
| 3 | g.15644528T>C | CA432819384 | BTD | c.612T>C (p.Pro204=) c.399+2471T>C (n.399+2471T>C) c.165+2471T>C (n.165+2471T>C) c.672T>C (p.Pro224=) c.678T>C (p.Pro226=) c.390T>C (p.Pro130=) c.*2390T>C (n.*2390T>C) | gnomAD v4 |
| 3 | g.15644528T>G | CA432819385 | BTD | c.612T>G (p.Pro204=) c.399+2471T>G (n.399+2471T>G) c.165+2471T>G (n.165+2471T>G) c.672T>G (p.Pro224=) c.678T>G (p.Pro226=) c.390T>G (p.Pro130=) c.*2390T>G (n.*2390T>G) | |
| 3 | g.15644529C>A | CA351606803 | BTD | c.613C>A (p.Leu205Ile) c.399+2472C>A (n.399+2472C>A) c.165+2472C>A (n.165+2472C>A) c.673C>A (p.Leu225Ile) c.679C>A (p.Leu227Ile) c.391C>A (p.Leu131Ile) c.*2391C>A (n.*2391C>A) | |
| 3 | g.15644529C>G | CA351606804 | BTD | c.613C>G (p.Leu205Val) c.399+2472C>G (n.399+2472C>G) c.165+2472C>G (n.165+2472C>G) c.673C>G (p.Leu225Val) c.679C>G (p.Leu227Val) c.391C>G (p.Leu131Val) c.*2391C>G (n.*2391C>G) | |
| 3 | g.15644529C>T | CA351606805 | BTD | c.613C>T (p.Leu205Phe) c.399+2472C>T (n.399+2472C>T) c.165+2472C>T (n.165+2472C>T) c.673C>T (p.Leu225Phe) c.679C>T (p.Leu227Phe) c.391C>T (p.Leu131Phe) c.*2391C>T (n.*2391C>T) | gnomAD v4 |
| 3 | g.15644530T>A | CA351606806 | BTD | c.614T>A (p.Leu205His) c.399+2473T>A (n.399+2473T>A) c.165+2473T>A (n.165+2473T>A) c.674T>A (p.Leu225His) c.680T>A (p.Leu227His) c.392T>A (p.Leu131His) c.*2392T>A (n.*2392T>A) | |
| 3 | g.15644530T>C | CA351606807 | BTD | c.614T>C (p.Leu205Pro) c.399+2473T>C (n.399+2473T>C) c.165+2473T>C (n.165+2473T>C) c.674T>C (p.Leu225Pro) c.680T>C (p.Leu227Pro) c.392T>C (p.Leu131Pro) c.*2392T>C (n.*2392T>C) | |
| 3 | g.15644530T>G | CA351606808 | BTD | c.614T>G (p.Leu205Arg) c.399+2473T>G (n.399+2473T>G) c.165+2473T>G (n.165+2473T>G) c.674T>G (p.Leu225Arg) c.680T>G (p.Leu227Arg) c.392T>G (p.Leu131Arg) c.*2392T>G (n.*2392T>G) | |
| 3 | g.15644531T>A | CA432819390 | BTD | c.615T>A (p.Leu205=) c.399+2474T>A (n.399+2474T>A) c.165+2474T>A (n.165+2474T>A) c.675T>A (p.Leu225=) c.681T>A (p.Leu227=) c.393T>A (p.Leu131=) c.*2393T>A (n.*2393T>A) | |
| 3 | g.15644531T>C | CA432819387 | BTD | c.615T>C (p.Leu205=) c.399+2474T>C (n.399+2474T>C) c.165+2474T>C (n.165+2474T>C) c.675T>C (p.Leu225=) c.681T>C (p.Leu227=) c.393T>C (p.Leu131=) c.*2393T>C (n.*2393T>C) | |
| 3 | g.15644531T>G | CA432819388 | BTD | c.615T>G (p.Leu205=) c.399+2474T>G (n.399+2474T>G) c.165+2474T>G (n.165+2474T>G) c.675T>G (p.Leu225=) c.681T>G (p.Leu227=) c.393T>G (p.Leu131=) c.*2393T>G (n.*2393T>G) | |
| 3 | g.15644532A= | CA1347663938 | BTD | c.616A= (p.Lys206=) c.399+2475A= (n.399+2475A=) c.165+2475A= (n.165+2475A=) c.676A= (p.Lys226=) c.682A= (p.Lys228=) c.394A= (p.Lys132=) c.*2394A= (n.*2394A=) | |
| 3 | g.15644532A>C | CA351606809 | BTD | c.616A>C (p.Lys206Gln) c.399+2475A>C (n.399+2475A>C) c.165+2475A>C (n.165+2475A>C) c.676A>C (p.Lys226Gln) c.682A>C (p.Lys228Gln) c.394A>C (p.Lys132Gln) c.*2394A>C (n.*2394A>C) | |
| 3 | g.15644532A>G | CA70621861 | BTD | c.616A>G (p.Lys206Glu) c.399+2475A>G (n.399+2475A>G) c.165+2475A>G (n.165+2475A>G) c.676A>G (p.Lys226Glu) c.682A>G (p.Lys228Glu) c.394A>G (p.Lys132Glu) c.*2394A>G (n.*2394A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644532A>T | CA351606810 | BTD | c.616A>T (p.Lys206Ter) c.399+2475A>T (n.399+2475A>T) c.165+2475A>T (n.165+2475A>T) c.676A>T (p.Lys226Ter) c.682A>T (p.Lys228Ter) c.394A>T (p.Lys132Ter) c.*2394A>T (n.*2394A>T) | |
| 3 | g.15644533A>C | CA351606813 | BTD | c.617A>C (p.Lys206Thr) c.399+2476A>C (n.399+2476A>C) c.165+2476A>C (n.165+2476A>C) c.677A>C (p.Lys226Thr) c.683A>C (p.Lys228Thr) c.395A>C (p.Lys132Thr) c.*2395A>C (n.*2395A>C) | |
| 3 | g.15644533A>G | CA351606811 | BTD | c.617A>G (p.Lys206Arg) c.399+2476A>G (n.399+2476A>G) c.165+2476A>G (n.165+2476A>G) c.677A>G (p.Lys226Arg) c.683A>G (p.Lys228Arg) c.395A>G (p.Lys132Arg) c.*2395A>G (n.*2395A>G) | |
| 3 | g.15644533A>T | CA351606812 | BTD | c.617A>T (p.Lys206Ile) c.399+2476A>T (n.399+2476A>T) c.165+2476A>T (n.165+2476A>T) c.677A>T (p.Lys226Ile) c.683A>T (p.Lys228Ile) c.395A>T (p.Lys132Ile) c.*2395A>T (n.*2395A>T) | |
| 3 | g.15644534A>C | CA351606814 | BTD | c.618A>C (p.Lys206Asn) c.399+2477A>C (n.399+2477A>C) c.165+2477A>C (n.165+2477A>C) c.678A>C (p.Lys226Asn) c.684A>C (p.Lys228Asn) c.396A>C (p.Lys132Asn) c.*2396A>C (n.*2396A>C) | |
| 3 | g.15644534A>G | CA432819393 | BTD | c.618A>G (p.Lys206=) c.399+2477A>G (n.399+2477A>G) c.165+2477A>G (n.165+2477A>G) c.678A>G (p.Lys226=) c.684A>G (p.Lys228=) c.396A>G (p.Lys132=) c.*2396A>G (n.*2396A>G) | |
| 3 | g.15644534A>T | CA351606815 | BTD | c.618A>T (p.Lys206Asn) c.399+2477A>T (n.399+2477A>T) c.165+2477A>T (n.165+2477A>T) c.678A>T (p.Lys226Asn) c.684A>T (p.Lys228Asn) c.396A>T (p.Lys132Asn) c.*2396A>T (n.*2396A>T) | |
| 3 | g.15644535G>A | CA351606816 | BTD | c.619G>A (p.Val207Met) c.399+2478G>A (n.399+2478G>A) c.165+2478G>A (n.165+2478G>A) c.679G>A (p.Val227Met) c.685G>A (p.Val229Met) c.397G>A (p.Val133Met) c.*2397G>A (n.*2397G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644535G>C | CA351606817 | BTD | c.619G>C (p.Val207Leu) c.399+2478G>C (n.399+2478G>C) c.165+2478G>C (n.165+2478G>C) c.679G>C (p.Val227Leu) c.685G>C (p.Val229Leu) c.397G>C (p.Val133Leu) c.*2397G>C (n.*2397G>C) | |
| 3 | g.15644535G= | CA1347663942 | BTD | c.619G= (p.Val207=) c.399+2478G= (n.399+2478G=) c.165+2478G= (n.165+2478G=) c.679G= (p.Val227=) c.685G= (p.Val229=) c.397G= (p.Val133=) c.*2397G= (n.*2397G=) | |
| 3 | g.15644535G>T | CA351606818 | BTD | c.619G>T (p.Val207Leu) c.399+2478G>T (n.399+2478G>T) c.165+2478G>T (n.165+2478G>T) c.679G>T (p.Val227Leu) c.685G>T (p.Val229Leu) c.397G>T (p.Val133Leu) c.*2397G>T (n.*2397G>T) | |
| 3 | g.15644536T>A | CA351606819 | BTD | c.620T>A (p.Val207Glu) c.399+2479T>A (n.399+2479T>A) c.165+2479T>A (n.165+2479T>A) c.680T>A (p.Val227Glu) c.686T>A (p.Val229Glu) c.398T>A (p.Val133Glu) c.*2398T>A (n.*2398T>A) | |
| 3 | g.15644536T>C | CA351606820 | BTD | c.620T>C (p.Val207Ala) c.399+2479T>C (n.399+2479T>C) c.165+2479T>C (n.165+2479T>C) c.680T>C (p.Val227Ala) c.686T>C (p.Val229Ala) c.398T>C (p.Val133Ala) c.*2398T>C (n.*2398T>C) | |
| 3 | g.15644536T>G | CA351606821 | BTD | c.620T>G (p.Val207Gly) c.399+2479T>G (n.399+2479T>G) c.165+2479T>G (n.165+2479T>G) c.680T>G (p.Val227Gly) c.686T>G (p.Val229Gly) c.398T>G (p.Val133Gly) c.*2398T>G (n.*2398T>G) | |
| 3 | g.15644537G>A | CA70621866 | BTD | c.621G>A (p.Val207=) c.399+2480G>A (n.399+2480G>A) c.165+2480G>A (n.165+2480G>A) c.681G>A (p.Val227=) c.687G>A (p.Val229=) c.399G>A (p.Val133=) c.*2399G>A (n.*2399G>A) | dbSNP |
| 3 | g.15644537G>C | CA432819396 | BTD | c.621G>C (p.Val207=) c.399+2480G>C (n.399+2480G>C) c.165+2480G>C (n.165+2480G>C) c.681G>C (p.Val227=) c.687G>C (p.Val229=) c.399G>C (p.Val133=) c.*2399G>C (n.*2399G>C) | |
| 3 | g.15644537G= | CA1347663944 | BTD | c.621G= (p.Val207=) c.399+2480G= (n.399+2480G=) c.165+2480G= (n.165+2480G=) c.681G= (p.Val227=) c.687G= (p.Val229=) c.399G= (p.Val133=) c.*2399G= (n.*2399G=) | |
| 3 | g.15644537G>T | CA432819398 | BTD | c.621G>T (p.Val207=) c.399+2480G>T (n.399+2480G>T) c.165+2480G>T (n.165+2480G>T) c.681G>T (p.Val227=) c.687G>T (p.Val229=) c.399G>T (p.Val133=) c.*2399G>T (n.*2399G>T) | |
| 3 | g.15644538G>A | CA351606822 | BTD | c.622G>A (p.Asp208Asn) c.399+2481G>A (n.399+2481G>A) c.165+2481G>A (n.165+2481G>A) c.682G>A (p.Asp228Asn) c.688G>A (p.Asp230Asn) c.400G>A (p.Asp134Asn) c.*2400G>A (n.*2400G>A) | |
| 3 | g.15644538G>C | CA351606823 | BTD | c.622G>C (p.Asp208His) c.399+2481G>C (n.399+2481G>C) c.165+2481G>C (n.165+2481G>C) c.682G>C (p.Asp228His) c.688G>C (p.Asp230His) c.400G>C (p.Asp134His) c.*2400G>C (n.*2400G>C) | COSMIC |
| 3 | g.15644538G= | CA1347663952 | BTD | c.622G= (p.Asp208=) c.399+2481G= (n.399+2481G=) c.165+2481G= (n.165+2481G=) c.682G= (p.Asp228=) c.688G= (p.Asp230=) c.400G= (p.Asp134=) c.*2400G= (n.*2400G=) | |
| 3 | g.15644538G>T | CA278249 | BTD | c.622G>T (p.Asp208Tyr) c.399+2481G>T (n.399+2481G>T) c.165+2481G>T (n.165+2481G>T) c.682G>T (p.Asp228Tyr) c.688G>T (p.Asp230Tyr) c.400G>T (p.Asp134Tyr) c.*2400G>T (n.*2400G>T) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.15644539A= | CA1347663957 | BTD | c.623A= (p.Asp208=) c.399+2482A= (n.399+2482A=) c.165+2482A= (n.165+2482A=) c.683A= (p.Asp228=) c.689A= (p.Asp230=) c.401A= (p.Asp134=) c.*2401A= (n.*2401A=) | |
| 3 | g.15644539A>C | CA351606824 | BTD | c.623A>C (p.Asp208Ala) c.399+2482A>C (n.399+2482A>C) c.165+2482A>C (n.165+2482A>C) c.683A>C (p.Asp228Ala) c.689A>C (p.Asp230Ala) c.401A>C (p.Asp134Ala) c.*2401A>C (n.*2401A>C) | |
| 3 | g.15644539A>G | CA278437 | BTD | c.623A>G (p.Asp208Gly) c.399+2482A>G (n.399+2482A>G) c.165+2482A>G (n.165+2482A>G) c.683A>G (p.Asp228Gly) c.689A>G (p.Asp230Gly) c.401A>G (p.Asp134Gly) c.*2401A>G (n.*2401A>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.15644539A>T | CA351606825 | BTD | c.623A>T (p.Asp208Val) c.399+2482A>T (n.399+2482A>T) c.165+2482A>T (n.165+2482A>T) c.683A>T (p.Asp228Val) c.689A>T (p.Asp230Val) c.401A>T (p.Asp134Val) c.*2401A>T (n.*2401A>T) | gnomAD v4 |
| 3 | g.15644540T>A | CA351606826 | BTD | c.624T>A (p.Asp208Glu) c.399+2483T>A (n.399+2483T>A) c.165+2483T>A (n.165+2483T>A) c.684T>A (p.Asp228Glu) c.690T>A (p.Asp230Glu) c.402T>A (p.Asp134Glu) c.*2402T>A (n.*2402T>A) | |
| 3 | g.15644540T>C | CA2277360 | BTD | c.624T>C (p.Asp208=) c.399+2483T>C (n.399+2483T>C) c.165+2483T>C (n.165+2483T>C) c.684T>C (p.Asp228=) c.690T>C (p.Asp230=) c.402T>C (p.Asp134=) c.*2402T>C (n.*2402T>C) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.15644540T>G | CA351606827 | BTD | c.624T>G (p.Asp208Glu) c.399+2483T>G (n.399+2483T>G) c.165+2483T>G (n.165+2483T>G) c.684T>G (p.Asp228Glu) c.690T>G (p.Asp230Glu) c.402T>G (p.Asp134Glu) c.*2402T>G (n.*2402T>G) | |
| 3 | g.15644540T= | CA1347663961 | BTD | c.624T= (p.Asp208=) c.399+2483T= (n.399+2483T=) c.165+2483T= (n.165+2483T=) c.684T= (p.Asp228=) c.690T= (p.Asp230=) c.402T= (p.Asp134=) c.*2402T= (n.*2402T=) | |
| 3 | g.15644541C>A | CA351606828 | BTD | c.625C>A (p.Leu209Ile) c.399+2484C>A (n.399+2484C>A) c.165+2484C>A (n.165+2484C>A) c.685C>A (p.Leu229Ile) c.691C>A (p.Leu231Ile) c.403C>A (p.Leu135Ile) c.*2403C>A (n.*2403C>A) | |
| 3 | g.15644541C>G | CA351606829 | BTD | c.625C>G (p.Leu209Val) c.399+2484C>G (n.399+2484C>G) c.165+2484C>G (n.165+2484C>G) c.685C>G (p.Leu229Val) c.691C>G (p.Leu231Val) c.403C>G (p.Leu135Val) c.*2403C>G (n.*2403C>G) | |
| 3 | g.15644541C>T | CA351606830 | BTD | c.625C>T (p.Leu209Phe) c.399+2484C>T (n.399+2484C>T) c.165+2484C>T (n.165+2484C>T) c.685C>T (p.Leu229Phe) c.691C>T (p.Leu231Phe) c.403C>T (p.Leu135Phe) c.*2403C>T (n.*2403C>T) | |
| 3 | g.15644542T>A | CA351606831 | BTD | c.626T>A (p.Leu209His) c.399+2485T>A (n.399+2485T>A) c.165+2485T>A (n.165+2485T>A) c.686T>A (p.Leu229His) c.692T>A (p.Leu231His) c.404T>A (p.Leu135His) c.*2404T>A (n.*2404T>A) | |
| 3 | g.15644542T>C | CA351606832 | BTD | c.626T>C (p.Leu209Pro) c.399+2485T>C (n.399+2485T>C) c.165+2485T>C (n.165+2485T>C) c.686T>C (p.Leu229Pro) c.692T>C (p.Leu231Pro) c.404T>C (p.Leu135Pro) c.*2404T>C (n.*2404T>C) | gnomAD v4 |
| 3 | g.15644542T>G | CA351606833 | BTD | c.626T>G (p.Leu209Arg) c.399+2485T>G (n.399+2485T>G) c.165+2485T>G (n.165+2485T>G) c.686T>G (p.Leu229Arg) c.692T>G (p.Leu231Arg) c.404T>G (p.Leu135Arg) c.*2404T>G (n.*2404T>G) | |
| 3 | g.15644543C>A | CA432819405 | BTD | c.627C>A (p.Leu209=) c.399+2486C>A (n.399+2486C>A) c.165+2486C>A (n.165+2486C>A) c.687C>A (p.Leu229=) c.693C>A (p.Leu231=) c.405C>A (p.Leu135=) c.*2405C>A (n.*2405C>A) | |
| 3 | g.15644543C>G | CA432819407 | BTD | c.627C>G (p.Leu209=) c.399+2486C>G (n.399+2486C>G) c.165+2486C>G (n.165+2486C>G) c.687C>G (p.Leu229=) c.693C>G (p.Leu231=) c.405C>G (p.Leu135=) c.*2405C>G (n.*2405C>G) | |
| 3 | g.15644543C>T | CA432819410 | BTD | c.627C>T (p.Leu209=) c.399+2486C>T (n.399+2486C>T) c.165+2486C>T (n.165+2486C>T) c.687C>T (p.Leu229=) c.693C>T (p.Leu231=) c.405C>T (p.Leu135=) c.*2405C>T (n.*2405C>T) | |
| 3 | g.15644544A>C | CA351606834 | BTD | c.628A>C (p.Ile210Leu) c.399+2487A>C (n.399+2487A>C) c.165+2487A>C (n.165+2487A>C) c.688A>C (p.Ile230Leu) c.694A>C (p.Ile232Leu) c.406A>C (p.Ile136Leu) c.*2406A>C (n.*2406A>C) | gnomAD v4 |
| 3 | g.15644544A>G | CA351606835 | BTD | c.628A>G (p.Ile210Val) c.399+2487A>G (n.399+2487A>G) c.165+2487A>G (n.165+2487A>G) c.688A>G (p.Ile230Val) c.694A>G (p.Ile232Val) c.406A>G (p.Ile136Val) c.*2406A>G (n.*2406A>G) | gnomAD v4 |
| 3 | g.15644544A>T | CA351606836 | BTD | c.628A>T (p.Ile210Phe) c.399+2487A>T (n.399+2487A>T) c.165+2487A>T (n.165+2487A>T) c.688A>T (p.Ile230Phe) c.694A>T (p.Ile232Phe) c.406A>T (p.Ile136Phe) c.*2406A>T (n.*2406A>T) | gnomAD v4 |
| 3 | g.15644545T>A | CA351606837 | BTD | c.629T>A (p.Ile210Asn) c.399+2488T>A (n.399+2488T>A) c.165+2488T>A (n.165+2488T>A) c.689T>A (p.Ile230Asn) c.695T>A (p.Ile232Asn) c.407T>A (p.Ile136Asn) c.*2407T>A (n.*2407T>A) | |
| 3 | g.15644545T>C | CA351606838 | BTD | c.629T>C (p.Ile210Thr) c.399+2488T>C (n.399+2488T>C) c.165+2488T>C (n.165+2488T>C) c.689T>C (p.Ile230Thr) c.695T>C (p.Ile232Thr) c.407T>C (p.Ile136Thr) c.*2407T>C (n.*2407T>C) | |
| 3 | g.15644545T>G | CA351606839 | BTD | c.629T>G (p.Ile210Ser) c.399+2488T>G (n.399+2488T>G) c.165+2488T>G (n.165+2488T>G) c.689T>G (p.Ile230Ser) c.695T>G (p.Ile232Ser) c.407T>G (p.Ile136Ser) c.*2407T>G (n.*2407T>G) | |
| 3 | g.15644546C>A | CA432819414 | BTD | c.630C>A (p.Ile210=) c.399+2489C>A (n.399+2489C>A) c.165+2489C>A (n.165+2489C>A) c.690C>A (p.Ile230=) c.696C>A (p.Ile232=) c.408C>A (p.Ile136=) c.*2408C>A (n.*2408C>A) | gnomAD v4 |
| 3 | g.15644546C>G | CA351606840 | BTD | c.630C>G (p.Ile210Met) c.399+2489C>G (n.399+2489C>G) c.165+2489C>G (n.165+2489C>G) c.690C>G (p.Ile230Met) c.696C>G (p.Ile232Met) c.408C>G (p.Ile136Met) c.*2408C>G (n.*2408C>G) | |
| 3 | g.15644546C>T | CA432819417 | BTD | c.630C>T (p.Ile210=) c.399+2489C>T (n.399+2489C>T) c.165+2489C>T (n.165+2489C>T) c.690C>T (p.Ile230=) c.696C>T (p.Ile232=) c.408C>T (p.Ile136=) c.*2408C>T (n.*2408C>T) | ClinVar gnomAD v4 |
| 3 | g.15644547A>C | CA351606841 | BTD | c.631A>C (p.Thr211Pro) c.399+2490A>C (n.399+2490A>C) c.165+2490A>C (n.165+2490A>C) c.691A>C (p.Thr231Pro) c.697A>C (p.Thr233Pro) c.409A>C (p.Thr137Pro) c.*2409A>C (n.*2409A>C) | |
| 3 | g.15644547A>G | CA351606842 | BTD | c.631A>G (p.Thr211Ala) c.399+2490A>G (n.399+2490A>G) c.165+2490A>G (n.165+2490A>G) c.691A>G (p.Thr231Ala) c.697A>G (p.Thr233Ala) c.409A>G (p.Thr137Ala) c.*2409A>G (n.*2409A>G) | |
| 3 | g.15644547A>T | CA351606843 | BTD | c.631A>T (p.Thr211Ser) c.399+2490A>T (n.399+2490A>T) c.165+2490A>T (n.165+2490A>T) c.691A>T (p.Thr231Ser) c.697A>T (p.Thr233Ser) c.409A>T (p.Thr137Ser) c.*2409A>T (n.*2409A>T) | |
| 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) |