UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15644396T>A | CA351606312 | BTD | c.480T>A (p.His160Gln) c.399+2339T>A (n.399+2339T>A) c.165+2339T>A (n.165+2339T>A) c.540T>A (p.His180Gln) c.546T>A (p.His182Gln) c.258T>A (p.His86Gln) c.*2258T>A (n.*2258T>A) | |
| 3 | g.15644396T>C | CA432819117 | BTD | c.480T>C (p.His160=) c.399+2339T>C (n.399+2339T>C) c.165+2339T>C (n.165+2339T>C) c.540T>C (p.His180=) c.546T>C (p.His182=) c.258T>C (p.His86=) c.*2258T>C (n.*2258T>C) | |
| 3 | g.15644396T>G | CA351606313 | BTD | c.480T>G (p.His160Gln) c.399+2339T>G (n.399+2339T>G) c.165+2339T>G (n.165+2339T>G) c.540T>G (p.His180Gln) c.546T>G (p.His182Gln) c.258T>G (p.His86Gln) c.*2258T>G (n.*2258T>G) | |
| 3 | g.15644397A= | CA1347663605 | BTD | c.481A= (p.Ser161=) c.399+2340A= (n.399+2340A=) c.165+2340A= (n.165+2340A=) c.541A= (p.Ser181=) c.547A= (p.Ser183=) c.259A= (p.Ser87=) c.*2259A= (n.*2259A=) | |
| 3 | g.15644397A>C | CA351606314 | BTD | c.481A>C (p.Ser161Arg) c.399+2340A>C (n.399+2340A>C) c.165+2340A>C (n.165+2340A>C) c.541A>C (p.Ser181Arg) c.547A>C (p.Ser183Arg) c.259A>C (p.Ser87Arg) c.*2259A>C (n.*2259A>C) | |
| 3 | g.15644397A>G | CA2277340 | BTD | c.481A>G (p.Ser161Gly) c.399+2340A>G (n.399+2340A>G) c.165+2340A>G (n.165+2340A>G) c.541A>G (p.Ser181Gly) c.547A>G (p.Ser183Gly) c.259A>G (p.Ser87Gly) c.*2259A>G (n.*2259A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644397A>T | CA351606315 | BTD | c.481A>T (p.Ser161Cys) c.399+2340A>T (n.399+2340A>T) c.165+2340A>T (n.165+2340A>T) c.541A>T (p.Ser181Cys) c.547A>T (p.Ser183Cys) c.259A>T (p.Ser87Cys) c.*2259A>T (n.*2259A>T) | |
| 3 | g.15644398G>A | CA351606318 | BTD | c.482G>A (p.Ser161Asn) c.399+2341G>A (n.399+2341G>A) c.165+2341G>A (n.165+2341G>A) c.542G>A (p.Ser181Asn) c.548G>A (p.Ser183Asn) c.260G>A (p.Ser87Asn) c.*2260G>A (n.*2260G>A) | |
| 3 | g.15644398G>C | CA351606317 | BTD | c.482G>C (p.Ser161Thr) c.399+2341G>C (n.399+2341G>C) c.165+2341G>C (n.165+2341G>C) c.542G>C (p.Ser181Thr) c.548G>C (p.Ser183Thr) c.260G>C (p.Ser87Thr) c.*2260G>C (n.*2260G>C) | |
| 3 | g.15644398G>T | CA351606316 | BTD | c.482G>T (p.Ser161Ile) c.399+2341G>T (n.399+2341G>T) c.165+2341G>T (n.165+2341G>T) c.542G>T (p.Ser181Ile) c.548G>T (p.Ser183Ile) c.260G>T (p.Ser87Ile) c.*2260G>T (n.*2260G>T) | gnomAD v4 |
| 3 | g.15644399C>A | CA351606319 | BTD | c.483C>A (p.Ser161Arg) c.399+2342C>A (n.399+2342C>A) c.165+2342C>A (n.165+2342C>A) c.543C>A (p.Ser181Arg) c.549C>A (p.Ser183Arg) c.261C>A (p.Ser87Arg) c.*2261C>A (n.*2261C>A) | |
| 3 | g.15644399C>G | CA351606320 | BTD | c.483C>G (p.Ser161Arg) c.399+2342C>G (n.399+2342C>G) c.165+2342C>G (n.165+2342C>G) c.543C>G (p.Ser181Arg) c.549C>G (p.Ser183Arg) c.261C>G (p.Ser87Arg) c.*2261C>G (n.*2261C>G) | |
| 3 | g.15644399C>T | CA432819119 | BTD | c.483C>T (p.Ser161=) c.399+2342C>T (n.399+2342C>T) c.165+2342C>T (n.165+2342C>T) c.543C>T (p.Ser181=) c.549C>T (p.Ser183=) c.261C>T (p.Ser87=) c.*2261C>T (n.*2261C>T) | |
| 3 | g.15644399_15644400delinsCA | CA1347663609 | BTD | c.483_484delinsCA (p.Ser161=) c.399+2342_399+2343delinsCA (n.399+2342_399+2343delinsCA) c.165+2342_165+2343delinsCA (n.165+2342_165+2343delinsCA) c.543_544delinsCA (p.Ser181=) c.549_550delinsCA (p.Ser183=) c.261_262delinsCA (p.Ser87=) c.*2261_*2262delinsCA (n.*2261_*2262delinsCA) | |
| 3 | g.15644400del | CA278222 | BTD | c.484del (p.Ser162ValfsTer?) c.399+2343del (n.399+2343del) c.165+2343del (n.165+2343del) c.544del (p.Ser182ValfsTer?) c.550del (p.Ser184ValfsTer?) c.262del (p.Ser88ValfsTer?) c.*2262del (n.*2262del) | dbSNP gnomAD v4 |
| 3 | g.15644400A>C | CA351606321 | BTD | c.484A>C (p.Ser162Arg) c.399+2343A>C (n.399+2343A>C) c.165+2343A>C (n.165+2343A>C) c.544A>C (p.Ser182Arg) c.550A>C (p.Ser184Arg) c.262A>C (p.Ser88Arg) c.*2262A>C (n.*2262A>C) | |
| 3 | g.15644400A>G | CA351606322 | BTD | c.484A>G (p.Ser162Gly) c.399+2343A>G (n.399+2343A>G) c.165+2343A>G (n.165+2343A>G) c.544A>G (p.Ser182Gly) c.550A>G (p.Ser184Gly) c.262A>G (p.Ser88Gly) c.*2262A>G (n.*2262A>G) | |
| 3 | g.15644400A>T | CA351606323 | BTD | c.484A>T (p.Ser162Cys) c.399+2343A>T (n.399+2343A>T) c.165+2343A>T (n.165+2343A>T) c.544A>T (p.Ser182Cys) c.550A>T (p.Ser184Cys) c.262A>T (p.Ser88Cys) c.*2262A>T (n.*2262A>T) | |
| 3 | g.15644401G>A | CA351606324 | BTD | c.485G>A (p.Ser162Asn) c.399+2344G>A (n.399+2344G>A) c.165+2344G>A (n.165+2344G>A) c.545G>A (p.Ser182Asn) c.551G>A (p.Ser184Asn) c.263G>A (p.Ser88Asn) c.*2263G>A (n.*2263G>A) | |
| 3 | g.15644401G>C | CA351606325 | BTD | c.485G>C (p.Ser162Thr) c.399+2344G>C (n.399+2344G>C) c.165+2344G>C (n.165+2344G>C) c.545G>C (p.Ser182Thr) c.551G>C (p.Ser184Thr) c.263G>C (p.Ser88Thr) c.*2263G>C (n.*2263G>C) | |
| 3 | g.15644401G>T | CA351606326 | BTD | c.485G>T (p.Ser162Ile) c.399+2344G>T (n.399+2344G>T) c.165+2344G>T (n.165+2344G>T) c.545G>T (p.Ser182Ile) c.551G>T (p.Ser184Ile) c.263G>T (p.Ser88Ile) c.*2263G>T (n.*2263G>T) | |
| 3 | g.15644402T>A | CA351606327 | BTD | c.486T>A (p.Ser162Arg) c.399+2345T>A (n.399+2345T>A) c.165+2345T>A (n.165+2345T>A) c.546T>A (p.Ser182Arg) c.552T>A (p.Ser184Arg) c.264T>A (p.Ser88Arg) c.*2264T>A (n.*2264T>A) | |
| 3 | g.15644402T>C | CA432819128 | BTD | c.486T>C (p.Ser162=) c.399+2345T>C (n.399+2345T>C) c.165+2345T>C (n.165+2345T>C) c.546T>C (p.Ser182=) c.552T>C (p.Ser184=) c.264T>C (p.Ser88=) c.*2264T>C (n.*2264T>C) | |
| 3 | g.15644402T>G | CA351606328 | BTD | c.486T>G (p.Ser162Arg) c.399+2345T>G (n.399+2345T>G) c.165+2345T>G (n.165+2345T>G) c.546T>G (p.Ser182Arg) c.552T>G (p.Ser184Arg) c.264T>G (p.Ser88Arg) c.*2264T>G (n.*2264T>G) | |
| 3 | g.15644403G>A | CA351606329 | BTD | c.487G>A (p.Asp163Asn) c.399+2346G>A (n.399+2346G>A) c.165+2346G>A (n.165+2346G>A) c.547G>A (p.Asp183Asn) c.553G>A (p.Asp185Asn) c.265G>A (p.Asp89Asn) c.*2265G>A (n.*2265G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644403G>C | CA351606330 | BTD | c.487G>C (p.Asp163His) c.399+2346G>C (n.399+2346G>C) c.165+2346G>C (n.165+2346G>C) c.547G>C (p.Asp183His) c.553G>C (p.Asp185His) c.265G>C (p.Asp89His) c.*2265G>C (n.*2265G>C) | |
| 3 | g.15644403G= | CA1347663611 | BTD | c.487G= (p.Asp163=) c.399+2346G= (n.399+2346G=) c.165+2346G= (n.165+2346G=) c.547G= (p.Asp183=) c.553G= (p.Asp185=) c.265G= (p.Asp89=) c.*2265G= (n.*2265G=) | |
| 3 | g.15644403G>T | CA351606331 | BTD | c.487G>T (p.Asp163Tyr) c.399+2346G>T (n.399+2346G>T) c.165+2346G>T (n.165+2346G>T) c.547G>T (p.Asp183Tyr) c.553G>T (p.Asp185Tyr) c.265G>T (p.Asp89Tyr) c.*2265G>T (n.*2265G>T) | |
| 3 | g.15644404A>C | CA351606333 | BTD | c.488A>C (p.Asp163Ala) c.399+2347A>C (n.399+2347A>C) c.165+2347A>C (n.165+2347A>C) c.548A>C (p.Asp183Ala) c.554A>C (p.Asp185Ala) c.266A>C (p.Asp89Ala) c.*2266A>C (n.*2266A>C) | |
| 3 | g.15644404A>G | CA351606334 | BTD | c.488A>G (p.Asp163Gly) c.399+2347A>G (n.399+2347A>G) c.165+2347A>G (n.165+2347A>G) c.548A>G (p.Asp183Gly) c.554A>G (p.Asp185Gly) c.266A>G (p.Asp89Gly) c.*2266A>G (n.*2266A>G) | gnomAD v4 |
| 3 | g.15644404A>T | CA351606332 | BTD | c.488A>T (p.Asp163Val) c.399+2347A>T (n.399+2347A>T) c.165+2347A>T (n.165+2347A>T) c.548A>T (p.Asp183Val) c.554A>T (p.Asp185Val) c.266A>T (p.Asp89Val) c.*2266A>T (n.*2266A>T) | |
| 3 | g.15644405C>A | CA351606336 | BTD | c.489C>A (p.Asp163Glu) c.399+2348C>A (n.399+2348C>A) c.165+2348C>A (n.165+2348C>A) c.549C>A (p.Asp183Glu) c.555C>A (p.Asp185Glu) c.267C>A (p.Asp89Glu) c.*2267C>A (n.*2267C>A) | |
| 3 | g.15644405C>G | CA351606335 | BTD | c.489C>G (p.Asp163Glu) c.399+2348C>G (n.399+2348C>G) c.165+2348C>G (n.165+2348C>G) c.549C>G (p.Asp183Glu) c.555C>G (p.Asp185Glu) c.267C>G (p.Asp89Glu) c.*2267C>G (n.*2267C>G) | |
| 3 | g.15644405C>T | CA432819131 | BTD | c.489C>T (p.Asp163=) c.399+2348C>T (n.399+2348C>T) c.165+2348C>T (n.165+2348C>T) c.549C>T (p.Asp183=) c.555C>T (p.Asp185=) c.267C>T (p.Asp89=) c.*2267C>T (n.*2267C>T) | |
| 3 | g.15644406C>A | CA351606339 | BTD | c.490C>A (p.Pro164Thr) c.399+2349C>A (n.399+2349C>A) c.165+2349C>A (n.165+2349C>A) c.550C>A (p.Pro184Thr) c.556C>A (p.Pro186Thr) c.268C>A (p.Pro90Thr) c.*2268C>A (n.*2268C>A) | |
| 3 | g.15644406C>G | CA351606337 | BTD | c.490C>G (p.Pro164Ala) c.399+2349C>G (n.399+2349C>G) c.165+2349C>G (n.165+2349C>G) c.550C>G (p.Pro184Ala) c.556C>G (p.Pro186Ala) c.268C>G (p.Pro90Ala) c.*2268C>G (n.*2268C>G) | |
| 3 | g.15644406C>T | CA351606338 | BTD | c.490C>T (p.Pro164Ser) c.399+2349C>T (n.399+2349C>T) c.165+2349C>T (n.165+2349C>T) c.550C>T (p.Pro184Ser) c.556C>T (p.Pro186Ser) c.268C>T (p.Pro90Ser) c.*2268C>T (n.*2268C>T) | ClinVar |
| 3 | g.15644407C>A | CA351606342 | BTD | c.491C>A (p.Pro164Gln) c.399+2350C>A (n.399+2350C>A) c.165+2350C>A (n.165+2350C>A) c.551C>A (p.Pro184Gln) c.557C>A (p.Pro186Gln) c.269C>A (p.Pro90Gln) c.*2269C>A (n.*2269C>A) | |
| 3 | g.15644407C>G | CA351606343 | BTD | c.491C>G (p.Pro164Arg) c.399+2350C>G (n.399+2350C>G) c.165+2350C>G (n.165+2350C>G) c.551C>G (p.Pro184Arg) c.557C>G (p.Pro186Arg) c.269C>G (p.Pro90Arg) c.*2269C>G (n.*2269C>G) | |
| 3 | g.15644407C>T | CA351606345 | BTD | c.491C>T (p.Pro164Leu) c.399+2350C>T (n.399+2350C>T) c.165+2350C>T (n.165+2350C>T) c.551C>T (p.Pro184Leu) c.557C>T (p.Pro186Leu) c.269C>T (p.Pro90Leu) c.*2269C>T (n.*2269C>T) | |
| 3 | g.15644408A= | CA1347663612 | BTD | c.492A= (p.Pro164=) c.399+2351A= (n.399+2351A=) c.165+2351A= (n.165+2351A=) c.552A= (p.Pro184=) c.558A= (p.Pro186=) c.270A= (p.Pro90=) c.*2270A= (n.*2270A=) | |
| 3 | g.15644408A>C | CA432819137 | BTD | c.492A>C (p.Pro164=) c.399+2351A>C (n.399+2351A>C) c.165+2351A>C (n.165+2351A>C) c.552A>C (p.Pro184=) c.558A>C (p.Pro186=) c.270A>C (p.Pro90=) c.*2270A>C (n.*2270A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644408A>G | CA432819138 | BTD | c.492A>G (p.Pro164=) c.399+2351A>G (n.399+2351A>G) c.165+2351A>G (n.165+2351A>G) c.552A>G (p.Pro184=) c.558A>G (p.Pro186=) c.270A>G (p.Pro90=) c.*2270A>G (n.*2270A>G) | |
| 3 | g.15644408A>T | CA432819139 | BTD | c.492A>T (p.Pro164=) c.399+2351A>T (n.399+2351A>T) c.165+2351A>T (n.165+2351A>T) c.552A>T (p.Pro184=) c.558A>T (p.Pro186=) c.270A>T (p.Pro90=) c.*2270A>T (n.*2270A>T) | |
| 3 | g.15644409A>C | CA432819140 | BTD | c.493A>C (p.Arg165=) c.399+2352A>C (n.399+2352A>C) c.165+2352A>C (n.165+2352A>C) c.553A>C (p.Arg185=) c.559A>C (p.Arg187=) c.271A>C (p.Arg91=) c.*2271A>C (n.*2271A>C) | |
| 3 | g.15644409A>G | CA351606347 | BTD | c.493A>G (p.Arg165Gly) c.399+2352A>G (n.399+2352A>G) c.165+2352A>G (n.165+2352A>G) c.553A>G (p.Arg185Gly) c.559A>G (p.Arg187Gly) c.271A>G (p.Arg91Gly) c.*2271A>G (n.*2271A>G) | gnomAD v4 |
| 3 | g.15644409A>T | CA351606349 | BTD | c.493A>T (p.Arg165Trp) c.399+2352A>T (n.399+2352A>T) c.165+2352A>T (n.165+2352A>T) c.553A>T (p.Arg185Trp) c.559A>T (p.Arg187Trp) c.271A>T (p.Arg91Trp) c.*2271A>T (n.*2271A>T) | gnomAD v4 |
| 3 | g.15644410G>A | CA351606354 | BTD | c.494G>A (p.Arg165Lys) c.399+2353G>A (n.399+2353G>A) c.165+2353G>A (n.165+2353G>A) c.554G>A (p.Arg185Lys) c.560G>A (p.Arg187Lys) c.272G>A (p.Arg91Lys) c.*2272G>A (n.*2272G>A) | ClinVar |
| 3 | g.15644410G>C | CA351606350 | BTD | c.494G>C (p.Arg165Thr) c.399+2353G>C (n.399+2353G>C) c.165+2353G>C (n.165+2353G>C) c.554G>C (p.Arg185Thr) c.560G>C (p.Arg187Thr) c.272G>C (p.Arg91Thr) c.*2272G>C (n.*2272G>C) | |
| 3 | g.15644410G>T | CA351606352 | BTD | c.494G>T (p.Arg165Met) c.399+2353G>T (n.399+2353G>T) c.165+2353G>T (n.165+2353G>T) c.554G>T (p.Arg185Met) c.560G>T (p.Arg187Met) c.272G>T (p.Arg91Met) c.*2272G>T (n.*2272G>T) | |
| 3 | g.15644411G>A | CA432819142 | BTD | c.495G>A (p.Arg165=) c.399+2354G>A (n.399+2354G>A) c.165+2354G>A (n.165+2354G>A) c.555G>A (p.Arg185=) c.561G>A (p.Arg187=) c.273G>A (p.Arg91=) c.*2273G>A (n.*2273G>A) | gnomAD v4 |
| 3 | g.15644411G>C | CA351606356 | BTD | c.495G>C (p.Arg165Ser) c.399+2354G>C (n.399+2354G>C) c.165+2354G>C (n.165+2354G>C) c.555G>C (p.Arg185Ser) c.561G>C (p.Arg187Ser) c.273G>C (p.Arg91Ser) c.*2273G>C (n.*2273G>C) | |
| 3 | g.15644411G>T | CA351606358 | BTD | c.495G>T (p.Arg165Ser) c.399+2354G>T (n.399+2354G>T) c.165+2354G>T (n.165+2354G>T) c.555G>T (p.Arg185Ser) c.561G>T (p.Arg187Ser) c.273G>T (p.Arg91Ser) c.*2273G>T (n.*2273G>T) | |
| 3 | g.15644412T>A | CA351606360 | BTD | c.496T>A (p.Cys166Ser) c.399+2355T>A (n.399+2355T>A) c.165+2355T>A (n.165+2355T>A) c.556T>A (p.Cys186Ser) c.562T>A (p.Cys188Ser) c.274T>A (p.Cys92Ser) c.*2274T>A (n.*2274T>A) | |
| 3 | g.15644412T>C | CA351606362 | BTD | c.496T>C (p.Cys166Arg) c.399+2355T>C (n.399+2355T>C) c.165+2355T>C (n.165+2355T>C) c.556T>C (p.Cys186Arg) c.562T>C (p.Cys188Arg) c.274T>C (p.Cys92Arg) c.*2274T>C (n.*2274T>C) | ClinVar dbSNP |
| 3 | g.15644412T>G | CA70621546 | BTD | c.496T>G (p.Cys166Gly) c.399+2355T>G (n.399+2355T>G) c.165+2355T>G (n.165+2355T>G) c.556T>G (p.Cys186Gly) c.562T>G (p.Cys188Gly) c.274T>G (p.Cys92Gly) c.*2274T>G (n.*2274T>G) | ClinVar dbSNP |
| 3 | g.15644412T= | CA1347663615 | BTD | c.496T= (p.Cys166=) c.399+2355T= (n.399+2355T=) c.165+2355T= (n.165+2355T=) c.556T= (p.Cys186=) c.562T= (p.Cys188=) c.274T= (p.Cys92=) c.*2274T= (n.*2274T=) | |
| 3 | g.15644413G>A | CA220327 | BTD | c.497G>A (p.Cys166Tyr) c.399+2356G>A (n.399+2356G>A) c.165+2356G>A (n.165+2356G>A) c.557G>A (p.Cys186Tyr) c.563G>A (p.Cys188Tyr) c.275G>A (p.Cys92Tyr) c.*2275G>A (n.*2275G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644413G>C | CA351606368 | BTD | c.497G>C (p.Cys166Ser) c.399+2356G>C (n.399+2356G>C) c.165+2356G>C (n.165+2356G>C) c.557G>C (p.Cys186Ser) c.563G>C (p.Cys188Ser) c.275G>C (p.Cys92Ser) c.*2275G>C (n.*2275G>C) | |
| 3 | g.15644413G= | CA1347663619 | BTD | c.497G= (p.Cys166=) c.399+2356G= (n.399+2356G=) c.165+2356G= (n.165+2356G=) c.557G= (p.Cys186=) c.563G= (p.Cys188=) c.275G= (p.Cys92=) c.*2275G= (n.*2275G=) | |
| 3 | g.15644413G>T | CA351606366 | BTD | c.497G>T (p.Cys166Phe) c.399+2356G>T (n.399+2356G>T) c.165+2356G>T (n.165+2356G>T) c.557G>T (p.Cys186Phe) c.563G>T (p.Cys188Phe) c.275G>T (p.Cys92Phe) c.*2275G>T (n.*2275G>T) | |
| 3 | g.15644414C>A | CA351606370 | BTD | c.498C>A (p.Cys166Ter) c.399+2357C>A (n.399+2357C>A) c.165+2357C>A (n.165+2357C>A) c.558C>A (p.Cys186Ter) c.564C>A (p.Cys188Ter) c.276C>A (p.Cys92Ter) c.*2276C>A (n.*2276C>A) | |
| 3 | g.15644414C>G | CA351606371 | BTD | c.498C>G (p.Cys166Trp) c.399+2357C>G (n.399+2357C>G) c.165+2357C>G (n.165+2357C>G) c.558C>G (p.Cys186Trp) c.564C>G (p.Cys188Trp) c.276C>G (p.Cys92Trp) c.*2276C>G (n.*2276C>G) | ClinVar dbSNP |
| 3 | g.15644414C>T | CA432819150 | BTD | c.498C>T (p.Cys166=) c.399+2357C>T (n.399+2357C>T) c.165+2357C>T (n.165+2357C>T) c.558C>T (p.Cys186=) c.564C>T (p.Cys188=) c.276C>T (p.Cys92=) c.*2276C>T (n.*2276C>T) | |
| 3 | g.15644416del | CA2573052104 | BTD | c.500del (p.Pro167GlnfsTer?) c.399+2359del (n.399+2359del) c.165+2359del (n.165+2359del) c.560del (p.Pro187GlnfsTer?) c.566del (p.Pro189GlnfsTer?) c.278del (p.Pro93GlnfsTer?) c.*2278del (n.*2278del) | ClinVar dbSNP |
| 3 | g.15644415C>A | CA351606373 | BTD | c.499C>A (p.Pro167Thr) c.399+2358C>A (n.399+2358C>A) c.165+2358C>A (n.165+2358C>A) c.559C>A (p.Pro187Thr) c.565C>A (p.Pro189Thr) c.277C>A (p.Pro93Thr) c.*2277C>A (n.*2277C>A) | |
| 3 | g.15644415C= | CA1347663623 | BTD | c.499C= (p.Pro167=) c.399+2358C= (n.399+2358C=) c.165+2358C= (n.165+2358C=) c.559C= (p.Pro187=) c.565C= (p.Pro189=) c.277C= (p.Pro93=) c.*2277C= (n.*2277C=) | |
| 3 | g.15644415C>G | CA351606375 | BTD | c.499C>G (p.Pro167Ala) c.399+2358C>G (n.399+2358C>G) c.165+2358C>G (n.165+2358C>G) c.559C>G (p.Pro187Ala) c.565C>G (p.Pro189Ala) c.277C>G (p.Pro93Ala) c.*2277C>G (n.*2277C>G) | |
| 3 | g.15644415C>T | CA278223 | BTD | c.499C>T (p.Pro167Ser) c.399+2358C>T (n.399+2358C>T) c.165+2358C>T (n.165+2358C>T) c.559C>T (p.Pro187Ser) c.565C>T (p.Pro189Ser) c.277C>T (p.Pro93Ser) c.*2277C>T (n.*2277C>T) | dbSNP |
| 3 | g.15644416C>A | CA351606378 | BTD | c.500C>A (p.Pro167Gln) c.399+2359C>A (n.399+2359C>A) c.165+2359C>A (n.165+2359C>A) c.560C>A (p.Pro187Gln) c.566C>A (p.Pro189Gln) c.278C>A (p.Pro93Gln) c.*2278C>A (n.*2278C>A) | |
| 3 | g.15644416C= | CA1347663628 | BTD | c.500C= (p.Pro167=) c.399+2359C= (n.399+2359C=) c.165+2359C= (n.165+2359C=) c.560C= (p.Pro187=) c.566C= (p.Pro189=) c.278C= (p.Pro93=) c.*2278C= (n.*2278C=) | |
| 3 | g.15644416C>G | CA351606380 | BTD | c.500C>G (p.Pro167Arg) c.399+2359C>G (n.399+2359C>G) c.165+2359C>G (n.165+2359C>G) c.560C>G (p.Pro187Arg) c.566C>G (p.Pro189Arg) c.278C>G (p.Pro93Arg) c.*2278C>G (n.*2278C>G) | |
| 3 | g.15644416C>T | CA2277341 | BTD | c.500C>T (p.Pro167Leu) c.399+2359C>T (n.399+2359C>T) c.165+2359C>T (n.165+2359C>T) c.560C>T (p.Pro187Leu) c.566C>T (p.Pro189Leu) c.278C>T (p.Pro93Leu) c.*2278C>T (n.*2278C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644417A= | CA1347663630 | BTD | c.501A= (p.Pro167=) c.399+2360A= (n.399+2360A=) c.165+2360A= (n.165+2360A=) c.561A= (p.Pro187=) c.567A= (p.Pro189=) c.279A= (p.Pro93=) c.*2279A= (n.*2279A=) | |
| 3 | g.15644417A>C | CA432819152 | BTD | c.501A>C (p.Pro167=) c.399+2360A>C (n.399+2360A>C) c.165+2360A>C (n.165+2360A>C) c.561A>C (p.Pro187=) c.567A>C (p.Pro189=) c.279A>C (p.Pro93=) c.*2279A>C (n.*2279A>C) | |
| 3 | g.15644417A>G | CA432819154 | BTD | c.501A>G (p.Pro167=) c.399+2360A>G (n.399+2360A>G) c.165+2360A>G (n.165+2360A>G) c.561A>G (p.Pro187=) c.567A>G (p.Pro189=) c.279A>G (p.Pro93=) c.*2279A>G (n.*2279A>G) | |
| 3 | g.15644417A>T | CA432819156 | BTD | c.501A>T (p.Pro167=) c.399+2360A>T (n.399+2360A>T) c.165+2360A>T (n.165+2360A>T) c.561A>T (p.Pro187=) c.567A>T (p.Pro189=) c.279A>T (p.Pro93=) c.*2279A>T (n.*2279A>T) | dbSNP |
| 3 | g.15644418A>C | CA351606382 | BTD | c.502A>C (p.Lys168Gln) c.399+2361A>C (n.399+2361A>C) c.165+2361A>C (n.165+2361A>C) c.562A>C (p.Lys188Gln) c.568A>C (p.Lys190Gln) c.280A>C (p.Lys94Gln) c.*2280A>C (n.*2280A>C) | |
| 3 | g.15644418A>G | CA351606384 | BTD | c.502A>G (p.Lys168Glu) c.399+2361A>G (n.399+2361A>G) c.165+2361A>G (n.165+2361A>G) c.562A>G (p.Lys188Glu) c.568A>G (p.Lys190Glu) c.280A>G (p.Lys94Glu) c.*2280A>G (n.*2280A>G) | gnomAD v4 |
| 3 | g.15644418A>T | CA351606385 | BTD | c.502A>T (p.Lys168Ter) c.399+2361A>T (n.399+2361A>T) c.165+2361A>T (n.165+2361A>T) c.562A>T (p.Lys188Ter) c.568A>T (p.Lys190Ter) c.280A>T (p.Lys94Ter) c.*2280A>T (n.*2280A>T) | |
| 3 | g.15644419A>C | CA351606388 | BTD | c.503A>C (p.Lys168Thr) c.399+2362A>C (n.399+2362A>C) c.165+2362A>C (n.165+2362A>C) c.563A>C (p.Lys188Thr) c.569A>C (p.Lys190Thr) c.281A>C (p.Lys94Thr) c.*2281A>C (n.*2281A>C) | |
| 3 | g.15644419A>G | CA351606391 | BTD | c.503A>G (p.Lys168Arg) c.399+2362A>G (n.399+2362A>G) c.165+2362A>G (n.165+2362A>G) c.563A>G (p.Lys188Arg) c.569A>G (p.Lys190Arg) c.281A>G (p.Lys94Arg) c.*2281A>G (n.*2281A>G) | |
| 3 | g.15644419A>T | CA351606390 | BTD | c.503A>T (p.Lys168Ile) c.399+2362A>T (n.399+2362A>T) c.165+2362A>T (n.165+2362A>T) c.563A>T (p.Lys188Ile) c.569A>T (p.Lys190Ile) c.281A>T (p.Lys94Ile) c.*2281A>T (n.*2281A>T) | |
| 3 | g.15644420A>C | CA351606393 | BTD | c.504A>C (p.Lys168Asn) c.399+2363A>C (n.399+2363A>C) c.165+2363A>C (n.165+2363A>C) c.564A>C (p.Lys188Asn) c.570A>C (p.Lys190Asn) c.282A>C (p.Lys94Asn) c.*2282A>C (n.*2282A>C) | |
| 3 | g.15644420A>G | CA432819169 | BTD | c.504A>G (p.Lys168=) c.399+2363A>G (n.399+2363A>G) c.165+2363A>G (n.165+2363A>G) c.564A>G (p.Lys188=) c.570A>G (p.Lys190=) c.282A>G (p.Lys94=) c.*2282A>G (n.*2282A>G) | |
| 3 | g.15644420A>T | CA351606395 | BTD | c.504A>T (p.Lys168Asn) c.399+2363A>T (n.399+2363A>T) c.165+2363A>T (n.165+2363A>T) c.564A>T (p.Lys188Asn) c.570A>T (p.Lys190Asn) c.282A>T (p.Lys94Asn) c.*2282A>T (n.*2282A>T) | |
| 3 | g.15644421G>A | CA351606398 | BTD | c.505G>A (p.Asp169Asn) c.399+2364G>A (n.399+2364G>A) c.165+2364G>A (n.165+2364G>A) c.565G>A (p.Asp189Asn) c.571G>A (p.Asp191Asn) c.283G>A (p.Asp95Asn) c.*2283G>A (n.*2283G>A) | |
| 3 | g.15644421G>C | CA351606400 | BTD | c.505G>C (p.Asp169His) c.399+2364G>C (n.399+2364G>C) c.165+2364G>C (n.165+2364G>C) c.565G>C (p.Asp189His) c.571G>C (p.Asp191His) c.283G>C (p.Asp95His) c.*2283G>C (n.*2283G>C) | COSMIC |
| 3 | g.15644421G>T | CA351606401 | BTD | c.505G>T (p.Asp169Tyr) c.399+2364G>T (n.399+2364G>T) c.165+2364G>T (n.165+2364G>T) c.565G>T (p.Asp189Tyr) c.571G>T (p.Asp191Tyr) c.283G>T (p.Asp95Tyr) c.*2283G>T (n.*2283G>T) | |
| 3 | g.15644422A= | CA1347663632 | BTD | c.506A= (p.Asp169=) c.399+2365A= (n.399+2365A=) c.165+2365A= (n.165+2365A=) c.566A= (p.Asp189=) c.572A= (p.Asp191=) c.284A= (p.Asp95=) c.*2284A= (n.*2284A=) | |
| 3 | g.15644422A>C | CA351606404 | BTD | c.506A>C (p.Asp169Ala) c.399+2365A>C (n.399+2365A>C) c.165+2365A>C (n.165+2365A>C) c.566A>C (p.Asp189Ala) c.572A>C (p.Asp191Ala) c.284A>C (p.Asp95Ala) c.*2284A>C (n.*2284A>C) | |
| 3 | g.15644422A>G | CA70621563 | BTD | c.506A>G (p.Asp169Gly) c.399+2365A>G (n.399+2365A>G) c.165+2365A>G (n.165+2365A>G) c.566A>G (p.Asp189Gly) c.572A>G (p.Asp191Gly) c.284A>G (p.Asp95Gly) c.*2284A>G (n.*2284A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644422A>T | CA351606406 | BTD | c.506A>T (p.Asp169Val) c.399+2365A>T (n.399+2365A>T) c.165+2365A>T (n.165+2365A>T) c.566A>T (p.Asp189Val) c.572A>T (p.Asp191Val) c.284A>T (p.Asp95Val) c.*2284A>T (n.*2284A>T) | gnomAD v4 |
| 3 | g.15644423T>A | CA351606409 | BTD | c.507T>A (p.Asp169Glu) c.399+2366T>A (n.399+2366T>A) c.165+2366T>A (n.165+2366T>A) c.567T>A (p.Asp189Glu) c.573T>A (p.Asp191Glu) c.285T>A (p.Asp95Glu) c.*2285T>A (n.*2285T>A) | |
| 3 | g.15644423T>C | CA432819175 | BTD | c.507T>C (p.Asp169=) c.399+2366T>C (n.399+2366T>C) c.165+2366T>C (n.165+2366T>C) c.567T>C (p.Asp189=) c.573T>C (p.Asp191=) c.285T>C (p.Asp95=) c.*2285T>C (n.*2285T>C) | gnomAD v4 |
| 3 | g.15644423T>G | CA351606410 | BTD | c.507T>G (p.Asp169Glu) c.399+2366T>G (n.399+2366T>G) c.165+2366T>G (n.165+2366T>G) c.567T>G (p.Asp189Glu) c.573T>G (p.Asp191Glu) c.285T>G (p.Asp95Glu) c.*2285T>G (n.*2285T>G) | |
| 3 | g.15644424G>A | CA351606413 | BTD | c.508G>A (p.Gly170Arg) c.399+2367G>A (n.399+2367G>A) c.165+2367G>A (n.165+2367G>A) c.568G>A (p.Gly190Arg) c.574G>A (p.Gly192Arg) c.286G>A (p.Gly96Arg) c.*2286G>A (n.*2286G>A) | |
| 3 | g.15644424G>C | CA351606415 | BTD | c.508G>C (p.Gly170Arg) c.399+2367G>C (n.399+2367G>C) c.165+2367G>C (n.165+2367G>C) c.568G>C (p.Gly190Arg) c.574G>C (p.Gly192Arg) c.286G>C (p.Gly96Arg) c.*2286G>C (n.*2286G>C) | |
| 3 | g.15644424G>T | CA351606416 | BTD | c.508G>T (p.Gly170Trp) c.399+2367G>T (n.399+2367G>T) c.165+2367G>T (n.165+2367G>T) c.568G>T (p.Gly190Trp) c.574G>T (p.Gly192Trp) c.286G>T (p.Gly96Trp) c.*2286G>T (n.*2286G>T) | |
| 3 | g.15644425G>A | CA351606419 | BTD | c.509G>A (p.Gly170Glu) c.399+2368G>A (n.399+2368G>A) c.165+2368G>A (n.165+2368G>A) c.569G>A (p.Gly190Glu) c.575G>A (p.Gly192Glu) c.287G>A (p.Gly96Glu) c.*2287G>A (n.*2287G>A) | |
| 3 | g.15644425G>C | CA351606422 | BTD | c.509G>C (p.Gly170Ala) c.399+2368G>C (n.399+2368G>C) c.165+2368G>C (n.165+2368G>C) c.569G>C (p.Gly190Ala) c.575G>C (p.Gly192Ala) c.287G>C (p.Gly96Ala) c.*2287G>C (n.*2287G>C) | |
| 3 | g.15644425G>T | CA351606421 | BTD | c.509G>T (p.Gly170Val) c.399+2368G>T (n.399+2368G>T) c.165+2368G>T (n.165+2368G>T) c.569G>T (p.Gly190Val) c.575G>T (p.Gly192Val) c.287G>T (p.Gly96Val) c.*2287G>T (n.*2287G>T) | |
| 3 | g.15644426G>A | CA432819183 | BTD | c.510G>A (p.Gly170=) c.399+2369G>A (n.399+2369G>A) c.165+2369G>A (n.165+2369G>A) c.570G>A (p.Gly190=) c.576G>A (p.Gly192=) c.288G>A (p.Gly96=) c.*2288G>A (n.*2288G>A) | dbSNP gnomAD v2 |
| 3 | g.15644426G>C | CA432819186 | BTD | c.510G>C (p.Gly170=) c.399+2369G>C (n.399+2369G>C) c.165+2369G>C (n.165+2369G>C) c.570G>C (p.Gly190=) c.576G>C (p.Gly192=) c.288G>C (p.Gly96=) c.*2288G>C (n.*2288G>C) | |
| 3 | g.15644426G= | CA1347663635 | BTD | c.510G= (p.Gly170=) c.399+2369G= (n.399+2369G=) c.165+2369G= (n.165+2369G=) c.570G= (p.Gly190=) c.576G= (p.Gly192=) c.288G= (p.Gly96=) c.*2288G= (n.*2288G=) | |
| 3 | g.15644426G>T | CA432819184 | BTD | c.510G>T (p.Gly170=) c.399+2369G>T (n.399+2369G>T) c.165+2369G>T (n.165+2369G>T) c.570G>T (p.Gly190=) c.576G>T (p.Gly192=) c.288G>T (p.Gly96=) c.*2288G>T (n.*2288G>T) | |
| 3 | g.15644427A>C | CA432819193 | BTD | c.511A>C (p.Arg171=) c.399+2370A>C (n.399+2370A>C) c.165+2370A>C (n.165+2370A>C) c.571A>C (p.Arg191=) c.577A>C (p.Arg193=) c.289A>C (p.Arg97=) c.*2289A>C (n.*2289A>C) | |
| 3 | g.15644427A>G | CA351606425 | BTD | c.511A>G (p.Arg171Gly) c.399+2370A>G (n.399+2370A>G) c.165+2370A>G (n.165+2370A>G) c.571A>G (p.Arg191Gly) c.577A>G (p.Arg193Gly) c.289A>G (p.Arg97Gly) c.*2289A>G (n.*2289A>G) | |
| 3 | g.15644427A>T | CA351606427 | BTD | c.511A>T (p.Arg171Ter) c.399+2370A>T (n.399+2370A>T) c.165+2370A>T (n.165+2370A>T) c.571A>T (p.Arg191Ter) c.577A>T (p.Arg193Ter) c.289A>T (p.Arg97Ter) c.*2289A>T (n.*2289A>T) | |
| 3 | g.15644428G>A | CA351606429 | BTD | c.512G>A (p.Arg171Lys) c.399+2371G>A (n.399+2371G>A) c.165+2371G>A (n.165+2371G>A) c.572G>A (p.Arg191Lys) c.578G>A (p.Arg193Lys) c.290G>A (p.Arg97Lys) c.*2290G>A (n.*2290G>A) | |
| 3 | g.15644428G>C | CA351606430 | BTD | c.512G>C (p.Arg171Thr) c.399+2371G>C (n.399+2371G>C) c.165+2371G>C (n.165+2371G>C) c.572G>C (p.Arg191Thr) c.578G>C (p.Arg193Thr) c.290G>C (p.Arg97Thr) c.*2290G>C (n.*2290G>C) | |
| 3 | g.15644428G>T | CA351606433 | BTD | c.512G>T (p.Arg171Ile) c.399+2371G>T (n.399+2371G>T) c.165+2371G>T (n.165+2371G>T) c.572G>T (p.Arg191Ile) c.578G>T (p.Arg193Ile) c.290G>T (p.Arg97Ile) c.*2290G>T (n.*2290G>T) | |
| 3 | g.15644429A>C | CA351606435 | BTD | c.513A>C (p.Arg171Ser) c.399+2372A>C (n.399+2372A>C) c.165+2372A>C (n.165+2372A>C) c.573A>C (p.Arg191Ser) c.579A>C (p.Arg193Ser) c.291A>C (p.Arg97Ser) c.*2291A>C (n.*2291A>C) | |
| 3 | g.15644429A>G | CA432819201 | BTD | c.513A>G (p.Arg171=) c.399+2372A>G (n.399+2372A>G) c.165+2372A>G (n.165+2372A>G) c.573A>G (p.Arg191=) c.579A>G (p.Arg193=) c.291A>G (p.Arg97=) c.*2291A>G (n.*2291A>G) | |
| 3 | g.15644429A>T | CA351606437 | BTD | c.513A>T (p.Arg171Ser) c.399+2372A>T (n.399+2372A>T) c.165+2372A>T (n.165+2372A>T) c.573A>T (p.Arg191Ser) c.579A>T (p.Arg193Ser) c.291A>T (p.Arg97Ser) c.*2291A>T (n.*2291A>T) | |
| 3 | g.15644430T>A | CA351606440 | BTD | c.514T>A (p.Tyr172Asn) c.399+2373T>A (n.399+2373T>A) c.165+2373T>A (n.165+2373T>A) c.574T>A (p.Tyr192Asn) c.580T>A (p.Tyr194Asn) c.292T>A (p.Tyr98Asn) c.*2292T>A (n.*2292T>A) | |
| 3 | g.15644430T>C | CA351606441 | BTD | c.514T>C (p.Tyr172His) c.399+2373T>C (n.399+2373T>C) c.165+2373T>C (n.165+2373T>C) c.574T>C (p.Tyr192His) c.580T>C (p.Tyr194His) c.292T>C (p.Tyr98His) c.*2292T>C (n.*2292T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644430T>G | CA351606442 | BTD | c.514T>G (p.Tyr172Asp) c.399+2373T>G (n.399+2373T>G) c.165+2373T>G (n.165+2373T>G) c.574T>G (p.Tyr192Asp) c.580T>G (p.Tyr194Asp) c.292T>G (p.Tyr98Asp) c.*2292T>G (n.*2292T>G) | |
| 3 | g.15644430T= | CA1347663638 | BTD | c.514T= (p.Tyr172=) c.399+2373T= (n.399+2373T=) c.165+2373T= (n.165+2373T=) c.574T= (p.Tyr192=) c.580T= (p.Tyr194=) c.292T= (p.Tyr98=) c.*2292T= (n.*2292T=) | |
| 3 | g.15644431A>C | CA351606449 | BTD | c.515A>C (p.Tyr172Ser) c.399+2374A>C (n.399+2374A>C) c.165+2374A>C (n.165+2374A>C) c.575A>C (p.Tyr192Ser) c.581A>C (p.Tyr194Ser) c.293A>C (p.Tyr98Ser) c.*2293A>C (n.*2293A>C) | |
| 3 | g.15644431A>G | CA351606447 | BTD | c.515A>G (p.Tyr172Cys) c.399+2374A>G (n.399+2374A>G) c.165+2374A>G (n.165+2374A>G) c.575A>G (p.Tyr192Cys) c.581A>G (p.Tyr194Cys) c.293A>G (p.Tyr98Cys) c.*2293A>G (n.*2293A>G) | |
| 3 | g.15644431A>T | CA351606445 | BTD | c.515A>T (p.Tyr172Phe) c.399+2374A>T (n.399+2374A>T) c.165+2374A>T (n.165+2374A>T) c.575A>T (p.Tyr192Phe) c.581A>T (p.Tyr194Phe) c.293A>T (p.Tyr98Phe) c.*2293A>T (n.*2293A>T) | |
| 3 | g.15644431dup | CA2664667149 | BTD | c.515dup (p.Tyr172Ter) c.399+2374dup (n.399+2374dup) c.165+2374dup (n.165+2374dup) c.575dup (p.Tyr192Ter) c.581dup (p.Tyr194Ter) c.293dup (p.Tyr98Ter) c.*2293dup (n.*2293dup) | gnomAD v4 |
| 3 | g.15644432C>A | CA2277342 | BTD | c.516C>A (p.Tyr172Ter) c.399+2375C>A (n.399+2375C>A) c.165+2375C>A (n.165+2375C>A) c.576C>A (p.Tyr192Ter) c.582C>A (p.Tyr194Ter) c.294C>A (p.Tyr98Ter) c.*2294C>A (n.*2294C>A) | ClinVar dbSNP ExAC |
| 3 | g.15644432C= | CA1347663639 | BTD | c.516C= (p.Tyr172=) c.399+2375C= (n.399+2375C=) c.165+2375C= (n.165+2375C=) c.576C= (p.Tyr192=) c.582C= (p.Tyr194=) c.294C= (p.Tyr98=) c.*2294C= (n.*2294C=) | |
| 3 | g.15644432C>G | CA351606452 | BTD | c.516C>G (p.Tyr172Ter) c.399+2375C>G (n.399+2375C>G) c.165+2375C>G (n.165+2375C>G) c.576C>G (p.Tyr192Ter) c.582C>G (p.Tyr194Ter) c.294C>G (p.Tyr98Ter) c.*2294C>G (n.*2294C>G) | |
| 3 | g.15644432C>T | CA432819206 | BTD | c.516C>T (p.Tyr172=) c.399+2375C>T (n.399+2375C>T) c.165+2375C>T (n.165+2375C>T) c.576C>T (p.Tyr192=) c.582C>T (p.Tyr194=) c.294C>T (p.Tyr98=) c.*2294C>T (n.*2294C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644433C>A | CA351606454 | BTD | c.517C>A (p.Gln173Lys) c.399+2376C>A (n.399+2376C>A) c.165+2376C>A (n.165+2376C>A) c.577C>A (p.Gln193Lys) c.583C>A (p.Gln195Lys) c.295C>A (p.Gln99Lys) c.*2295C>A (n.*2295C>A) | |
| 3 | g.15644433C>G | CA351606456 | BTD | c.517C>G (p.Gln173Glu) c.399+2376C>G (n.399+2376C>G) c.165+2376C>G (n.165+2376C>G) c.577C>G (p.Gln193Glu) c.583C>G (p.Gln195Glu) c.295C>G (p.Gln99Glu) c.*2295C>G (n.*2295C>G) | |
| 3 | g.15644433C>T | CA351606457 | BTD | c.517C>T (p.Gln173Ter) c.399+2376C>T (n.399+2376C>T) c.165+2376C>T (n.165+2376C>T) c.577C>T (p.Gln193Ter) c.583C>T (p.Gln195Ter) c.295C>T (p.Gln99Ter) c.*2295C>T (n.*2295C>T) | |
| 3 | g.15644434A= | CA1347663644 | BTD | c.518A= (p.Gln173=) c.399+2377A= (n.399+2377A=) c.165+2377A= (n.165+2377A=) c.578A= (p.Gln193=) c.584A= (p.Gln195=) c.296A= (p.Gln99=) c.*2296A= (n.*2296A=) | |
| 3 | g.15644434A>C | CA351606460 | BTD | c.518A>C (p.Gln173Pro) c.399+2377A>C (n.399+2377A>C) c.165+2377A>C (n.165+2377A>C) c.578A>C (p.Gln193Pro) c.584A>C (p.Gln195Pro) c.296A>C (p.Gln99Pro) c.*2296A>C (n.*2296A>C) | |
| 3 | g.15644434A>G | CA351606461 | BTD | c.518A>G (p.Gln173Arg) c.399+2377A>G (n.399+2377A>G) c.165+2377A>G (n.165+2377A>G) c.578A>G (p.Gln193Arg) c.584A>G (p.Gln195Arg) c.296A>G (p.Gln99Arg) c.*2296A>G (n.*2296A>G) | dbSNP |
| 3 | g.15644434A>T | CA351606463 | BTD | c.518A>T (p.Gln173Leu) c.399+2377A>T (n.399+2377A>T) c.165+2377A>T (n.165+2377A>T) c.578A>T (p.Gln193Leu) c.584A>T (p.Gln195Leu) c.296A>T (p.Gln99Leu) c.*2296A>T (n.*2296A>T) | |
| 3 | g.15644434_15644437delinsAGTT | CA1347663642 | BTD | c.518_521delinsAGTT (p.Gln173=) c.399+2377_399+2380delinsAGTT (n.399+2377_399+2380delinsAGTT) c.165+2377_165+2380delinsAGTT (n.165+2377_165+2380delinsAGTT) c.578_581delinsAGTT (p.Gln193=) c.584_587delinsAGTT (p.Gln195=) c.296_299delinsAGTT (p.Gln99=) c.*2296_*2299delinsAGTT (n.*2296_*2299delinsAGTT) | |
| 3 | g.15644435G>A | CA432819214 | BTD | c.519G>A (p.Gln173=) c.399+2378G>A (n.399+2378G>A) c.165+2378G>A (n.165+2378G>A) c.579G>A (p.Gln193=) c.585G>A (p.Gln195=) c.297G>A (p.Gln99=) c.*2297G>A (n.*2297G>A) | gnomAD v4 |
| 3 | g.15644435G>C | CA351606465 | BTD | c.519G>C (p.Gln173His) c.399+2378G>C (n.399+2378G>C) c.165+2378G>C (n.165+2378G>C) c.579G>C (p.Gln193His) c.585G>C (p.Gln195His) c.297G>C (p.Gln99His) c.*2297G>C (n.*2297G>C) | |
| 3 | g.15644435G>T | CA351606466 | BTD | c.519G>T (p.Gln173His) c.399+2378G>T (n.399+2378G>T) c.165+2378G>T (n.165+2378G>T) c.579G>T (p.Gln193His) c.585G>T (p.Gln195His) c.297G>T (p.Gln99His) c.*2297G>T (n.*2297G>T) | |
| 3 | g.15644435_15644437del | CA70621580 | BTD | c.519_521del (p.Gln173_Phe174delinsHis) c.399+2378_399+2380del (n.399+2378_399+2380del) c.165+2378_165+2380del (n.165+2378_165+2380del) c.579_581del (p.Gln193_Phe194delinsHis) c.585_587del (p.Gln195_Phe196delinsHis) c.297_299del (p.Gln99_Phe100delinsHis) c.*2297_*2299del (n.*2297_*2299del) | dbSNP |
| 3 | g.15644436T>A | CA351606470 | BTD | c.520T>A (p.Phe174Ile) c.399+2379T>A (n.399+2379T>A) c.165+2379T>A (n.165+2379T>A) c.580T>A (p.Phe194Ile) c.586T>A (p.Phe196Ile) c.298T>A (p.Phe100Ile) c.*2298T>A (n.*2298T>A) | |
| 3 | g.15644436T>C | CA351606471 | BTD | c.520T>C (p.Phe174Leu) c.399+2379T>C (n.399+2379T>C) c.165+2379T>C (n.165+2379T>C) c.580T>C (p.Phe194Leu) c.586T>C (p.Phe196Leu) c.298T>C (p.Phe100Leu) c.*2298T>C (n.*2298T>C) | |
| 3 | g.15644436T>G | CA351606473 | BTD | c.520T>G (p.Phe174Val) c.399+2379T>G (n.399+2379T>G) c.165+2379T>G (n.165+2379T>G) c.580T>G (p.Phe194Val) c.586T>G (p.Phe196Val) c.298T>G (p.Phe100Val) c.*2298T>G (n.*2298T>G) | |
| 3 | g.15644437T>A | CA351606478 | BTD | c.521T>A (p.Phe174Tyr) c.399+2380T>A (n.399+2380T>A) c.165+2380T>A (n.165+2380T>A) c.581T>A (p.Phe194Tyr) c.587T>A (p.Phe196Tyr) c.299T>A (p.Phe100Tyr) c.*2299T>A (n.*2299T>A) | |
| 3 | g.15644437T>C | CA351606475 | BTD | c.521T>C (p.Phe174Ser) c.399+2380T>C (n.399+2380T>C) c.165+2380T>C (n.165+2380T>C) c.581T>C (p.Phe194Ser) c.587T>C (p.Phe196Ser) c.299T>C (p.Phe100Ser) c.*2299T>C (n.*2299T>C) | |
| 3 | g.15644437T>G | CA351606477 | BTD | c.521T>G (p.Phe174Cys) c.399+2380T>G (n.399+2380T>G) c.165+2380T>G (n.165+2380T>G) c.581T>G (p.Phe194Cys) c.587T>G (p.Phe196Cys) c.299T>G (p.Phe100Cys) c.*2299T>G (n.*2299T>G) | |
| 3 | g.15644438C>A | CA351606480 | BTD | c.522C>A (p.Phe174Leu) c.399+2381C>A (n.399+2381C>A) c.165+2381C>A (n.165+2381C>A) c.582C>A (p.Phe194Leu) c.588C>A (p.Phe196Leu) c.300C>A (p.Phe100Leu) c.*2300C>A (n.*2300C>A) | |
| 3 | g.15644438C= | CA1347663647 | BTD | c.522C= (p.Phe174=) c.399+2381C= (n.399+2381C=) c.165+2381C= (n.165+2381C=) c.582C= (p.Phe194=) c.588C= (p.Phe196=) c.300C= (p.Phe100=) c.*2300C= (n.*2300C=) | |
| 3 | g.15644438C>G | CA351606482 | BTD | c.522C>G (p.Phe174Leu) c.399+2381C>G (n.399+2381C>G) c.165+2381C>G (n.165+2381C>G) c.582C>G (p.Phe194Leu) c.588C>G (p.Phe196Leu) c.300C>G (p.Phe100Leu) c.*2300C>G (n.*2300C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644438C>T | CA2277343 | BTD | c.522C>T (p.Phe174=) c.399+2381C>T (n.399+2381C>T) c.165+2381C>T (n.165+2381C>T) c.582C>T (p.Phe194=) c.588C>T (p.Phe196=) c.300C>T (p.Phe100=) c.*2300C>T (n.*2300C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644439A= | CA1347663655 | BTD | c.523A= (p.Asn175=) c.399+2382A= (n.399+2382A=) c.165+2382A= (n.165+2382A=) c.583A= (p.Asn195=) c.589A= (p.Asn197=) c.301A= (p.Asn101=) c.*2301A= (n.*2301A=) | |
| 3 | g.15644439A>C | CA351606486 | BTD | c.523A>C (p.Asn175His) c.399+2382A>C (n.399+2382A>C) c.165+2382A>C (n.165+2382A>C) c.583A>C (p.Asn195His) c.589A>C (p.Asn197His) c.301A>C (p.Asn101His) c.*2301A>C (n.*2301A>C) | |
| 3 | g.15644439A>G | CA278225 | BTD | c.523A>G (p.Asn175Asp) c.399+2382A>G (n.399+2382A>G) c.165+2382A>G (n.165+2382A>G) c.583A>G (p.Asn195Asp) c.589A>G (p.Asn197Asp) c.301A>G (p.Asn101Asp) c.*2301A>G (n.*2301A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644439A>T | CA351606488 | BTD | c.523A>T (p.Asn175Tyr) c.399+2382A>T (n.399+2382A>T) c.165+2382A>T (n.165+2382A>T) c.583A>T (p.Asn195Tyr) c.589A>T (p.Asn197Tyr) c.301A>T (p.Asn101Tyr) c.*2301A>T (n.*2301A>T) | |
| 3 | g.15644440A= | CA1347663658 | BTD | c.524A= (p.Asn175=) c.399+2383A= (n.399+2383A=) c.165+2383A= (n.165+2383A=) c.584A= (p.Asn195=) c.590A= (p.Asn197=) c.302A= (p.Asn101=) c.*2302A= (n.*2302A=) | |
| 3 | g.15644440A>C | CA351606490 | BTD | c.524A>C (p.Asn175Thr) c.399+2383A>C (n.399+2383A>C) c.165+2383A>C (n.165+2383A>C) c.584A>C (p.Asn195Thr) c.590A>C (p.Asn197Thr) c.302A>C (p.Asn101Thr) c.*2302A>C (n.*2302A>C) | |
| 3 | g.15644440A>G | CA278227 | BTD | c.524A>G (p.Asn175Ser) c.399+2383A>G (n.399+2383A>G) c.165+2383A>G (n.165+2383A>G) c.584A>G (p.Asn195Ser) c.590A>G (p.Asn197Ser) c.302A>G (p.Asn101Ser) c.*2302A>G (n.*2302A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644440A>T | CA351606492 | BTD | c.524A>T (p.Asn175Ile) c.399+2383A>T (n.399+2383A>T) c.165+2383A>T (n.165+2383A>T) c.584A>T (p.Asn195Ile) c.590A>T (p.Asn197Ile) c.302A>T (p.Asn101Ile) c.*2302A>T (n.*2302A>T) | |
| 3 | g.15644441C>A | CA351606494 | BTD | c.525C>A (p.Asn175Lys) c.399+2384C>A (n.399+2384C>A) c.165+2384C>A (n.165+2384C>A) c.585C>A (p.Asn195Lys) c.591C>A (p.Asn197Lys) c.303C>A (p.Asn101Lys) c.*2303C>A (n.*2303C>A) | |
| 3 | g.15644441C>G | CA351606495 | BTD | c.525C>G (p.Asn175Lys) c.399+2384C>G (n.399+2384C>G) c.165+2384C>G (n.165+2384C>G) c.585C>G (p.Asn195Lys) c.591C>G (p.Asn197Lys) c.303C>G (p.Asn101Lys) c.*2303C>G (n.*2303C>G) | |
| 3 | g.15644441C>T | CA432819227 | BTD | c.525C>T (p.Asn175=) c.399+2384C>T (n.399+2384C>T) c.165+2384C>T (n.165+2384C>T) c.585C>T (p.Asn195=) c.591C>T (p.Asn197=) c.303C>T (p.Asn101=) c.*2303C>T (n.*2303C>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.15644442A= | CA1347663662 | BTD | c.526A= (p.Thr176=) c.399+2385A= (n.399+2385A=) c.165+2385A= (n.165+2385A=) c.586A= (p.Thr196=) c.592A= (p.Thr198=) c.304A= (p.Thr102=) c.*2304A= (n.*2304A=) | |
| 3 | g.15644442A>C | CA351606499 | BTD | c.526A>C (p.Thr176Pro) c.399+2385A>C (n.399+2385A>C) c.165+2385A>C (n.165+2385A>C) c.586A>C (p.Thr196Pro) c.592A>C (p.Thr198Pro) c.304A>C (p.Thr102Pro) c.*2304A>C (n.*2304A>C) | |
| 3 | g.15644442A>G | CA70621611 | BTD | c.526A>G (p.Thr176Ala) c.399+2385A>G (n.399+2385A>G) c.165+2385A>G (n.165+2385A>G) c.586A>G (p.Thr196Ala) c.592A>G (p.Thr198Ala) c.304A>G (p.Thr102Ala) c.*2304A>G (n.*2304A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644442A>T | CA351606497 | BTD | c.526A>T (p.Thr176Ser) c.399+2385A>T (n.399+2385A>T) c.165+2385A>T (n.165+2385A>T) c.586A>T (p.Thr196Ser) c.592A>T (p.Thr198Ser) c.304A>T (p.Thr102Ser) c.*2304A>T (n.*2304A>T) | |
| 3 | g.15644442_15644443delinsAC | CA1347663663 | BTD | c.526_527delinsAC (p.Thr176=) c.399+2385_399+2386delinsAC (n.399+2385_399+2386delinsAC) c.165+2385_165+2386delinsAC (n.165+2385_165+2386delinsAC) c.586_587delinsAC (p.Thr196=) c.592_593delinsAC (p.Thr198=) c.304_305delinsAC (p.Thr102=) c.*2304_*2305delinsAC (n.*2304_*2305delinsAC) | |
| 3 | g.15644443del | CA658796245 | BTD | c.527del (p.Thr176LysfsTer?) c.399+2386del (n.399+2386del) c.165+2386del (n.165+2386del) c.587del (p.Thr196LysfsTer?) c.593del (p.Thr198LysfsTer?) c.305del (p.Thr102LysfsTer?) c.*2305del (n.*2305del) | ClinVar dbSNP |
| 3 | g.15644443C>A | CA351606502 | BTD | c.527C>A (p.Thr176Lys) c.399+2386C>A (n.399+2386C>A) c.165+2386C>A (n.165+2386C>A) c.587C>A (p.Thr196Lys) c.593C>A (p.Thr198Lys) c.305C>A (p.Thr102Lys) c.*2305C>A (n.*2305C>A) | |
| 3 | g.15644443C= | CA1347663672 | BTD | c.527C= (p.Thr176=) c.399+2386C= (n.399+2386C=) c.165+2386C= (n.165+2386C=) c.587C= (p.Thr196=) c.593C= (p.Thr198=) c.305C= (p.Thr102=) c.*2305C= (n.*2305C=) | |
| 3 | g.15644443C>G | CA278229 | BTD | c.527C>G (p.Thr176Arg) c.399+2386C>G (n.399+2386C>G) c.165+2386C>G (n.165+2386C>G) c.587C>G (p.Thr196Arg) c.593C>G (p.Thr198Arg) c.305C>G (p.Thr102Arg) c.*2305C>G (n.*2305C>G) | dbSNP gnomAD v4 |
| 3 | g.15644443C>T | CA351606506 | BTD | c.527C>T (p.Thr176Ile) c.399+2386C>T (n.399+2386C>T) c.165+2386C>T (n.165+2386C>T) c.587C>T (p.Thr196Ile) c.593C>T (p.Thr198Ile) c.305C>T (p.Thr102Ile) c.*2305C>T (n.*2305C>T) | |
| 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.15644444A>C | CA432819235 | BTD | c.528A>C (p.Thr176=) c.399+2387A>C (n.399+2387A>C) c.165+2387A>C (n.165+2387A>C) c.588A>C (p.Thr196=) c.594A>C (p.Thr198=) c.306A>C (p.Thr102=) c.*2306A>C (n.*2306A>C) | |
| 3 | g.15644444A>G | CA432819237 | BTD | c.528A>G (p.Thr176=) c.399+2387A>G (n.399+2387A>G) c.165+2387A>G (n.165+2387A>G) c.588A>G (p.Thr196=) c.594A>G (p.Thr198=) c.306A>G (p.Thr102=) c.*2306A>G (n.*2306A>G) | COSMIC |
| 3 | g.15644444A>T | CA432819238 | BTD | c.528A>T (p.Thr176=) c.399+2387A>T (n.399+2387A>T) c.165+2387A>T (n.165+2387A>T) c.588A>T (p.Thr196=) c.594A>T (p.Thr198=) c.306A>T (p.Thr102=) c.*2306A>T (n.*2306A>T) | |
| 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.15644445A= | CA1347663687 | BTD | c.529A= (p.Asn177=) c.399+2388A= (n.399+2388A=) c.165+2388A= (n.165+2388A=) c.589A= (p.Asn197=) c.595A= (p.Asn199=) c.307A= (p.Asn103=) c.*2307A= (n.*2307A=) | |
| 3 | g.15644445A>C | CA351606508 | BTD | c.529A>C (p.Asn177His) c.399+2388A>C (n.399+2388A>C) c.165+2388A>C (n.165+2388A>C) c.589A>C (p.Asn197His) c.595A>C (p.Asn199His) c.307A>C (p.Asn103His) c.*2307A>C (n.*2307A>C) | |
| 3 | g.15644445A>G | CA2277344 | BTD | c.529A>G (p.Asn177Asp) c.399+2388A>G (n.399+2388A>G) c.165+2388A>G (n.165+2388A>G) c.589A>G (p.Asn197Asp) c.595A>G (p.Asn199Asp) c.307A>G (p.Asn103Asp) c.*2307A>G (n.*2307A>G) | dbSNP ExAC gnomAD v2 |
| 3 | g.15644445A>T | CA351606511 | BTD | c.529A>T (p.Asn177Tyr) c.399+2388A>T (n.399+2388A>T) c.165+2388A>T (n.165+2388A>T) c.589A>T (p.Asn197Tyr) c.595A>T (p.Asn199Tyr) c.307A>T (p.Asn103Tyr) c.*2307A>T (n.*2307A>T) | dbSNP |
| 3 | g.15644446A>C | CA351606517 | BTD | c.530A>C (p.Asn177Thr) c.399+2389A>C (n.399+2389A>C) c.165+2389A>C (n.165+2389A>C) c.590A>C (p.Asn197Thr) c.596A>C (p.Asn199Thr) c.308A>C (p.Asn103Thr) c.*2308A>C (n.*2308A>C) | |
| 3 | g.15644446A>G | CA351606513 | BTD | c.530A>G (p.Asn177Ser) c.399+2389A>G (n.399+2389A>G) c.165+2389A>G (n.165+2389A>G) c.590A>G (p.Asn197Ser) c.596A>G (p.Asn199Ser) c.308A>G (p.Asn103Ser) c.*2308A>G (n.*2308A>G) | |
| 3 | g.15644446A>T | CA351606516 | BTD | c.530A>T (p.Asn177Ile) c.399+2389A>T (n.399+2389A>T) c.165+2389A>T (n.165+2389A>T) c.590A>T (p.Asn197Ile) c.596A>T (p.Asn199Ile) c.308A>T (p.Asn103Ile) c.*2308A>T (n.*2308A>T) | |
| 3 | g.15644447T>A | CA351606520 | BTD | c.531T>A (p.Asn177Lys) c.399+2390T>A (n.399+2390T>A) c.165+2390T>A (n.165+2390T>A) c.591T>A (p.Asn197Lys) c.597T>A (p.Asn199Lys) c.309T>A (p.Asn103Lys) c.*2309T>A (n.*2309T>A) | |
| 3 | g.15644447T>C | CA432819247 | BTD | c.531T>C (p.Asn177=) c.399+2390T>C (n.399+2390T>C) c.165+2390T>C (n.165+2390T>C) c.591T>C (p.Asn197=) c.597T>C (p.Asn199=) c.309T>C (p.Asn103=) c.*2309T>C (n.*2309T>C) | |
| 3 | g.15644447T>G | CA351606522 | BTD | c.531T>G (p.Asn177Lys) c.399+2390T>G (n.399+2390T>G) c.165+2390T>G (n.165+2390T>G) c.591T>G (p.Asn197Lys) c.597T>G (p.Asn199Lys) c.309T>G (p.Asn103Lys) c.*2309T>G (n.*2309T>G) | |
| 3 | g.15644447_15644450delinsTGTC | CA1347663689 | BTD | c.531_534delinsTGTC (p.Asn177=) c.399+2390_399+2393delinsTGTC (n.399+2390_399+2393delinsTGTC) c.165+2390_165+2393delinsTGTC (n.165+2390_165+2393delinsTGTC) c.591_594delinsTGTC (p.Asn197=) c.597_600delinsTGTC (p.Asn199=) c.309_312delinsTGTC (p.Asn103=) c.*2309_*2312delinsTGTC (n.*2309_*2312delinsTGTC) | |
| 3 | g.15644448G>A | CA2277345 | BTD | c.532G>A (p.Val178Ile) c.399+2391G>A (n.399+2391G>A) c.165+2391G>A (n.165+2391G>A) c.592G>A (p.Val198Ile) c.598G>A (p.Val200Ile) c.310G>A (p.Val104Ile) c.*2310G>A (n.*2310G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644448G>C | CA351606525 | BTD | c.532G>C (p.Val178Leu) c.399+2391G>C (n.399+2391G>C) c.165+2391G>C (n.165+2391G>C) c.592G>C (p.Val198Leu) c.598G>C (p.Val200Leu) c.310G>C (p.Val104Leu) c.*2310G>C (n.*2310G>C) | |
| 3 | g.15644448G= | CA1347663696 | BTD | c.532G= (p.Val178=) c.399+2391G= (n.399+2391G=) c.165+2391G= (n.165+2391G=) c.592G= (p.Val198=) c.598G= (p.Val200=) c.310G= (p.Val104=) c.*2310G= (n.*2310G=) | |
| 3 | g.15644448G>T | CA351606527 | BTD | c.532G>T (p.Val178Phe) c.399+2391G>T (n.399+2391G>T) c.165+2391G>T (n.165+2391G>T) c.592G>T (p.Val198Phe) c.598G>T (p.Val200Phe) c.310G>T (p.Val104Phe) c.*2310G>T (n.*2310G>T) | gnomAD v4 |
| 3 | g.15644450_15644452del | CA278231 | BTD | c.534_536del (p.Val179del) c.399+2393_399+2395del (n.399+2393_399+2395del) c.165+2393_165+2395del (n.165+2393_165+2395del) c.594_596del (p.Val199del) c.600_602del (p.Val201del) c.312_314del (p.Val105del) c.*2312_*2314del (n.*2312_*2314del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644449T>A | CA351606530 | BTD | c.533T>A (p.Val178Asp) c.399+2392T>A (n.399+2392T>A) c.165+2392T>A (n.165+2392T>A) c.593T>A (p.Val198Asp) c.599T>A (p.Val200Asp) c.311T>A (p.Val104Asp) c.*2311T>A (n.*2311T>A) | |
| 3 | g.15644449T>C | CA351606533 | BTD | c.533T>C (p.Val178Ala) c.399+2392T>C (n.399+2392T>C) c.165+2392T>C (n.165+2392T>C) c.593T>C (p.Val198Ala) c.599T>C (p.Val200Ala) c.311T>C (p.Val104Ala) c.*2311T>C (n.*2311T>C) | |
| 3 | g.15644449T>G | CA351606531 | BTD | c.533T>G (p.Val178Gly) c.399+2392T>G (n.399+2392T>G) c.165+2392T>G (n.165+2392T>G) c.593T>G (p.Val198Gly) c.599T>G (p.Val200Gly) c.311T>G (p.Val104Gly) c.*2311T>G (n.*2311T>G) | |
| 3 | g.15644449_15644450delinsTC | CA1347663702 | BTD | c.533_534delinsTC (p.Val178=) c.399+2392_399+2393delinsTC (n.399+2392_399+2393delinsTC) c.165+2392_165+2393delinsTC (n.165+2392_165+2393delinsTC) c.593_594delinsTC (p.Val198=) c.599_600delinsTC (p.Val200=) c.311_312delinsTC (p.Val104=) c.*2311_*2312delinsTC (n.*2311_*2312delinsTC) | |
| 3 | g.15644450del | CA278234 | BTD | c.534del (p.Val179CysfsTer?) c.399+2393del (n.399+2393del) c.165+2393del (n.165+2393del) c.594del (p.Val199CysfsTer?) c.600del (p.Val201CysfsTer?) c.312del (p.Val105CysfsTer?) c.*2312del (n.*2312del) | dbSNP |
| 3 | g.15644450C>A | CA432819258 | BTD | c.534C>A (p.Val178=) c.399+2393C>A (n.399+2393C>A) c.165+2393C>A (n.165+2393C>A) c.594C>A (p.Val198=) c.600C>A (p.Val200=) c.312C>A (p.Val104=) c.*2312C>A (n.*2312C>A) | |
| 3 | g.15644450C= | CA1347663712 | BTD | c.534C= (p.Val178=) c.399+2393C= (n.399+2393C=) c.165+2393C= (n.165+2393C=) c.594C= (p.Val198=) c.600C= (p.Val200=) c.312C= (p.Val104=) c.*2312C= (n.*2312C=) | |
| 3 | g.15644450C>G | CA432819260 | BTD | c.534C>G (p.Val178=) c.399+2393C>G (n.399+2393C>G) c.165+2393C>G (n.165+2393C>G) c.594C>G (p.Val198=) c.600C>G (p.Val200=) c.312C>G (p.Val104=) c.*2312C>G (n.*2312C>G) | ClinVar dbSNP |
| 3 | g.15644450C>T | CA2277346 | BTD | c.534C>T (p.Val178=) c.399+2393C>T (n.399+2393C>T) c.165+2393C>T (n.165+2393C>T) c.594C>T (p.Val198=) c.600C>T (p.Val200=) c.312C>T (p.Val104=) c.*2312C>T (n.*2312C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644451G>A | CA278235 | BTD | c.535G>A (p.Val179Met) c.399+2394G>A (n.399+2394G>A) c.165+2394G>A (n.165+2394G>A) c.595G>A (p.Val199Met) c.601G>A (p.Val201Met) c.313G>A (p.Val105Met) c.*2313G>A (n.*2313G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.15644451G>C | CA351606538 | BTD | c.535G>C (p.Val179Leu) c.399+2394G>C (n.399+2394G>C) c.165+2394G>C (n.165+2394G>C) c.595G>C (p.Val199Leu) c.601G>C (p.Val201Leu) c.313G>C (p.Val105Leu) c.*2313G>C (n.*2313G>C) | dbSNP |
| 3 | g.15644451G= | CA1347663717 | BTD | c.535G= (p.Val179=) c.399+2394G= (n.399+2394G=) c.165+2394G= (n.165+2394G=) c.595G= (p.Val199=) c.601G= (p.Val201=) c.313G= (p.Val105=) c.*2313G= (n.*2313G=) | |
| 3 | g.15644451G>T | CA351606540 | BTD | c.535G>T (p.Val179Leu) c.399+2394G>T (n.399+2394G>T) c.165+2394G>T (n.165+2394G>T) c.595G>T (p.Val199Leu) c.601G>T (p.Val201Leu) c.313G>T (p.Val105Leu) c.*2313G>T (n.*2313G>T) | gnomAD v4 |
| 3 | g.15644452T>A | CA351606543 | BTD | c.536T>A (p.Val179Glu) c.399+2395T>A (n.399+2395T>A) c.165+2395T>A (n.165+2395T>A) c.596T>A (p.Val199Glu) c.602T>A (p.Val201Glu) c.314T>A (p.Val105Glu) c.*2314T>A (n.*2314T>A) | gnomAD v4 |
| 3 | g.15644452T>C | CA351606545 | BTD | c.536T>C (p.Val179Ala) c.399+2395T>C (n.399+2395T>C) c.165+2395T>C (n.165+2395T>C) c.596T>C (p.Val199Ala) c.602T>C (p.Val201Ala) c.314T>C (p.Val105Ala) c.*2314T>C (n.*2314T>C) | |
| 3 | g.15644452T>G | CA351606547 | BTD | c.536T>G (p.Val179Gly) c.399+2395T>G (n.399+2395T>G) c.165+2395T>G (n.165+2395T>G) c.596T>G (p.Val199Gly) c.602T>G (p.Val201Gly) c.314T>G (p.Val105Gly) c.*2314T>G (n.*2314T>G) | |
| 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) |