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.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) |