| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15644388C>A | CA351606293 | BTD | c.472C>A (p.Pro158Thr) c.399+2331C>A (n.399+2331C>A) c.165+2331C>A (n.165+2331C>A) c.532C>A (p.Pro178Thr) c.538C>A (p.Pro180Thr) c.250C>A (p.Pro84Thr) c.*2250C>A (n.*2250C>A) | |
| 3 | g.15644388C>G | CA351606294 | BTD | c.472C>G (p.Pro158Ala) c.399+2331C>G (n.399+2331C>G) c.165+2331C>G (n.165+2331C>G) c.532C>G (p.Pro178Ala) c.538C>G (p.Pro180Ala) c.250C>G (p.Pro84Ala) c.*2250C>G (n.*2250C>G) | |
| 3 | g.15644388C>T | CA351606295 | BTD | c.472C>T (p.Pro158Ser) c.399+2331C>T (n.399+2331C>T) c.165+2331C>T (n.165+2331C>T) c.532C>T (p.Pro178Ser) c.538C>T (p.Pro180Ser) c.250C>T (p.Pro84Ser) c.*2250C>T (n.*2250C>T) | |
| 3 | g.15644389C>A | CA351606296 | BTD | c.473C>A (p.Pro158His) c.399+2332C>A (n.399+2332C>A) c.165+2332C>A (n.165+2332C>A) c.533C>A (p.Pro178His) c.539C>A (p.Pro180His) c.251C>A (p.Pro84His) c.*2251C>A (n.*2251C>A) | |
| 3 | g.15644389C>G | CA351606297 | BTD | c.473C>G (p.Pro158Arg) c.399+2332C>G (n.399+2332C>G) c.165+2332C>G (n.165+2332C>G) c.533C>G (p.Pro178Arg) c.539C>G (p.Pro180Arg) c.251C>G (p.Pro84Arg) c.*2251C>G (n.*2251C>G) | gnomAD v4 |
| 3 | g.15644389C>T | CA351606298 | BTD | c.473C>T (p.Pro158Leu) c.399+2332C>T (n.399+2332C>T) c.165+2332C>T (n.165+2332C>T) c.533C>T (p.Pro178Leu) c.539C>T (p.Pro180Leu) c.251C>T (p.Pro84Leu) c.*2251C>T (n.*2251C>T) | |
| 3 | g.15644390T>A | CA432819107 | BTD | c.474T>A (p.Pro158=) c.399+2333T>A (n.399+2333T>A) c.165+2333T>A (n.165+2333T>A) c.534T>A (p.Pro178=) c.540T>A (p.Pro180=) c.252T>A (p.Pro84=) c.*2252T>A (n.*2252T>A) | |
| 3 | g.15644390T>C | CA432819108 | BTD | c.474T>C (p.Pro158=) c.399+2333T>C (n.399+2333T>C) c.165+2333T>C (n.165+2333T>C) c.534T>C (p.Pro178=) c.540T>C (p.Pro180=) c.252T>C (p.Pro84=) c.*2252T>C (n.*2252T>C) | |
| 3 | g.15644390T>G | CA432819109 | BTD | c.474T>G (p.Pro158=) c.399+2333T>G (n.399+2333T>G) c.165+2333T>G (n.165+2333T>G) c.534T>G (p.Pro178=) c.540T>G (p.Pro180=) c.252T>G (p.Pro84=) c.*2252T>G (n.*2252T>G) | |
| 3 | g.15644391T>A | CA351606299 | BTD | c.475T>A (p.Cys159Ser) c.399+2334T>A (n.399+2334T>A) c.165+2334T>A (n.165+2334T>A) c.535T>A (p.Cys179Ser) c.541T>A (p.Cys181Ser) c.253T>A (p.Cys85Ser) c.*2253T>A (n.*2253T>A) | |
| 3 | g.15644391T>C | CA351606300 | BTD | c.475T>C (p.Cys159Arg) c.399+2334T>C (n.399+2334T>C) c.165+2334T>C (n.165+2334T>C) c.535T>C (p.Cys179Arg) c.541T>C (p.Cys181Arg) c.253T>C (p.Cys85Arg) c.*2253T>C (n.*2253T>C) | |
| 3 | g.15644391T>G | CA351606301 | BTD | c.475T>G (p.Cys159Gly) c.399+2334T>G (n.399+2334T>G) c.165+2334T>G (n.165+2334T>G) c.535T>G (p.Cys179Gly) c.541T>G (p.Cys181Gly) c.253T>G (p.Cys85Gly) c.*2253T>G (n.*2253T>G) | |
| 3 | g.15644392G>A | CA351606303 | BTD | c.476G>A (p.Cys159Tyr) c.399+2335G>A (n.399+2335G>A) c.165+2335G>A (n.165+2335G>A) c.536G>A (p.Cys179Tyr) c.542G>A (p.Cys181Tyr) c.254G>A (p.Cys85Tyr) c.*2254G>A (n.*2254G>A) | |
| 3 | g.15644392G>C | CA351606304 | BTD | c.476G>C (p.Cys159Ser) c.399+2335G>C (n.399+2335G>C) c.165+2335G>C (n.165+2335G>C) c.536G>C (p.Cys179Ser) c.542G>C (p.Cys181Ser) c.254G>C (p.Cys85Ser) c.*2254G>C (n.*2254G>C) | |
| 3 | g.15644392G>T | CA351606302 | BTD | c.476G>T (p.Cys159Phe) c.399+2335G>T (n.399+2335G>T) c.165+2335G>T (n.165+2335G>T) c.536G>T (p.Cys179Phe) c.542G>T (p.Cys181Phe) c.254G>T (p.Cys85Phe) c.*2254G>T (n.*2254G>T) | |
| 3 | g.15644393T>A | CA351606305 | BTD | c.477T>A (p.Cys159Ter) c.399+2336T>A (n.399+2336T>A) c.165+2336T>A (n.165+2336T>A) c.537T>A (p.Cys179Ter) c.543T>A (p.Cys181Ter) c.255T>A (p.Cys85Ter) c.*2255T>A (n.*2255T>A) | |
| 3 | g.15644393T>C | CA432819111 | BTD | c.477T>C (p.Cys159=) c.399+2336T>C (n.399+2336T>C) c.165+2336T>C (n.165+2336T>C) c.537T>C (p.Cys179=) c.543T>C (p.Cys181=) c.255T>C (p.Cys85=) c.*2255T>C (n.*2255T>C) | |
| 3 | g.15644393T>G | CA351606306 | BTD | c.477T>G (p.Cys159Trp) c.399+2336T>G (n.399+2336T>G) c.165+2336T>G (n.165+2336T>G) c.537T>G (p.Cys179Trp) c.543T>G (p.Cys181Trp) c.255T>G (p.Cys85Trp) c.*2255T>G (n.*2255T>G) | |
| 3 | g.15644393_15644394delinsAA | CA2573136159 | BTD | c.477_478delinsAA (p.Cys159Ter) c.399+2336_399+2337delinsAA (n.399+2336_399+2337delinsAA) c.165+2336_165+2337delinsAA (n.165+2336_165+2337delinsAA) c.537_538delinsAA (p.Cys179Ter) c.543_544delinsAA (p.Cys181Ter) c.255_256delinsAA (p.Cys85Ter) c.*2255_*2256delinsAA (n.*2255_*2256delinsAA) | ClinVar dbSNP |
| 3 | g.15644394C>A | CA351606307 | BTD | c.478C>A (p.His160Asn) c.399+2337C>A (n.399+2337C>A) c.165+2337C>A (n.165+2337C>A) c.538C>A (p.His180Asn) c.544C>A (p.His182Asn) c.256C>A (p.His86Asn) c.*2256C>A (n.*2256C>A) | |
| 3 | g.15644394C>G | CA351606308 | BTD | c.478C>G (p.His160Asp) c.399+2337C>G (n.399+2337C>G) c.165+2337C>G (n.165+2337C>G) c.538C>G (p.His180Asp) c.544C>G (p.His182Asp) c.256C>G (p.His86Asp) c.*2256C>G (n.*2256C>G) | |
| 3 | g.15644394C>T | CA351606309 | BTD | c.478C>T (p.His160Tyr) c.399+2337C>T (n.399+2337C>T) c.165+2337C>T (n.165+2337C>T) c.538C>T (p.His180Tyr) c.544C>T (p.His182Tyr) c.256C>T (p.His86Tyr) c.*2256C>T (n.*2256C>T) | |
| 3 | g.15644395A= | CA1347663603 | BTD | c.479A= (p.His160=) c.399+2338A= (n.399+2338A=) c.165+2338A= (n.165+2338A=) c.539A= (p.His180=) c.545A= (p.His182=) c.257A= (p.His86=) c.*2257A= (n.*2257A=) | |
| 3 | g.15644395A>C | CA351606310 | BTD | c.479A>C (p.His160Pro) c.399+2338A>C (n.399+2338A>C) c.165+2338A>C (n.165+2338A>C) c.539A>C (p.His180Pro) c.545A>C (p.His182Pro) c.257A>C (p.His86Pro) c.*2257A>C (n.*2257A>C) | |
| 3 | g.15644395A>G | CA2277339 | BTD | c.479A>G (p.His160Arg) c.399+2338A>G (n.399+2338A>G) c.165+2338A>G (n.165+2338A>G) c.539A>G (p.His180Arg) c.545A>G (p.His182Arg) c.257A>G (p.His86Arg) c.*2257A>G (n.*2257A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644395A>T | CA351606311 | BTD | c.479A>T (p.His160Leu) c.399+2338A>T (n.399+2338A>T) c.165+2338A>T (n.165+2338A>T) c.539A>T (p.His180Leu) c.545A>T (p.His182Leu) c.257A>T (p.His86Leu) c.*2257A>T (n.*2257A>T) | |
| 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) |