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 |
|---|---|---|---|---|---|
| 12 | g.121846824A= | CA2068077674 | HPD | c.831+38T= (n.831+38T=) c.714+38T= (n.714+38T=) | |
| 12 | g.121846824A>G | CA607929850 | HPD | c.831+38T>C (n.831+38T>C) c.714+38T>C (n.714+38T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.121846825A= | CA2068077679 | HPD | c.831+37T= (n.831+37T=) c.714+37T= (n.714+37T=) | |
| 12 | g.121846825A>G | CA2068077682 | HPD | c.831+37T>C (n.831+37T>C) c.714+37T>C (n.714+37T>C) | dbSNP |
| 12 | g.121846826T>C | CA2068077690 | HPD | c.831+36A>G (n.831+36A>G) c.714+36A>G (n.714+36A>G) | dbSNP |
| 12 | g.121846826T>G | CA2621466262 | HPD | c.831+36A>C (n.831+36A>C) c.714+36A>C (n.714+36A>C) | gnomAD v4 |
| 12 | g.121846826T= | CA2068077688 | HPD | c.831+36A= (n.831+36A=) c.714+36A= (n.714+36A=) | |
| 12 | g.121846826_121846828delinsTGA | CA2068077684 | HPD | c.831+34_831+36delinsTCA (n.831+34_831+36delinsTCA) c.714+34_714+36delinsTCA (n.714+34_714+36delinsTCA) | |
| 12 | g.121846827G>T | CA2575327664 | HPD | c.831+35C>A (n.831+35C>A) c.714+35C>A (n.714+35C>A) | gnomAD v4 |
| 12 | g.121846832_121846833del | CA6839516 | HPD | c.831+34_831+35del (n.831+34_831+35del) c.714+34_714+35del (n.714+34_714+35del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.121846828A>C | CA2621466267 | HPD | c.831+34T>G (n.831+34T>G) c.714+34T>G (n.714+34T>G) | gnomAD v4 |
| 12 | g.121846829G>T | CA2621466270 | HPD | c.831+33C>A (n.831+33C>A) c.714+33C>A (n.714+33C>A) | gnomAD v4 |
| 12 | g.121846848_121846849insCGGTCTCTGCAAAATTGAGAGGAATTCGGACAGGGA | CA2621466269 | HPD | c.831+33_831+34insAATTTTGCAGAGACCGTCCCTGTCCGAATTCCTCTC (n.831+33_831+34insAATTTTGCAGAGACCGTCCCTGTCCGAATTCCTCTC) c.714+33_714+34insAATTTTGCAGAGACCGTCCCTGTCCGAATTCCTCTC (n.714+33_714+34insAATTTTGCAGAGACCGTCCCTGTCCGAATTCCTCTC) | gnomAD v4 |
| 12 | g.121846830A>T | CA2621466272 | HPD | c.831+32T>A (n.831+32T>A) c.714+32T>A (n.714+32T>A) | gnomAD v4 |
| 12 | g.121846831G>A | CA684565157 | HPD | c.831+31C>T (n.831+31C>T) c.714+31C>T (n.714+31C>T) | dbSNP gnomAD v4 |
| 12 | g.121846831G>C | CA6839517 | HPD | c.831+31C>G (n.831+31C>G) c.714+31C>G (n.714+31C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.121846831G= | CA2068077695 | HPD | c.831+31C= (n.831+31C=) c.714+31C= (n.714+31C=) | |
| 12 | g.121846831G>T | CA2621466277 | HPD | c.831+31C>A (n.831+31C>A) c.714+31C>A (n.714+31C>A) | gnomAD v4 |
| 12 | g.121846832A= | CA2068077698 | HPD | c.831+30T= (n.831+30T=) c.714+30T= (n.714+30T=) | |
| 12 | g.121846832A>G | CA607929851 | HPD | c.831+30T>C (n.831+30T>C) c.714+30T>C (n.714+30T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.121846833G>C | CA2621466288 | HPD | c.831+29C>G (n.831+29C>G) c.714+29C>G (n.714+29C>G) | gnomAD v4 |
| 12 | g.121846834G>T | CA2621466290 | HPD | c.831+28C>A (n.831+28C>A) c.714+28C>A (n.714+28C>A) | gnomAD v4 |
| 12 | g.121846838T>C | CA2068077714 | HPD | c.831+24A>G (n.831+24A>G) c.714+24A>G (n.714+24A>G) | dbSNP |
| 12 | g.121846838T= | CA2068077712 | HPD | c.831+24A= (n.831+24A=) c.714+24A= (n.714+24A=) | |
| 12 | g.121846839C= | CA2068077729 | HPD | c.831+23G= (n.831+23G=) c.714+23G= (n.714+23G=) | |
| 12 | g.121846839C>T | CA6839518 | HPD | c.831+23G>A (n.831+23G>A) c.714+23G>A (n.714+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121846840G>A | CA6839519 | HPD | c.831+22C>T (n.831+22C>T) c.714+22C>T (n.714+22C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121846840G>C | CA607929852 | HPD | c.831+22C>G (n.831+22C>G) c.714+22C>G (n.714+22C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.121846840G= | CA2068077736 | HPD | c.831+22C= (n.831+22C=) c.714+22C= (n.714+22C=) | |
| 12 | g.121846840G>T | CA952641917 | HPD | c.831+22C>A (n.831+22C>A) c.714+22C>A (n.714+22C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121846841G>C | CA2575327666 | HPD | c.831+21C>G (n.831+21C>G) c.714+21C>G (n.714+21C>G) | gnomAD v4 |
| 12 | g.121846845G>A | CA2575327668 | HPD | c.831+17C>T (n.831+17C>T) c.714+17C>T (n.714+17C>T) | |
| 12 | g.121846846G>A | CA6839520 | HPD | c.831+16C>T (n.831+16C>T) c.714+16C>T (n.714+16C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.121846846G>C | CA2068077742 | HPD | c.831+16C>G (n.831+16C>G) c.714+16C>G (n.714+16C>G) | dbSNP |
| 12 | g.121846846G= | CA2068077744 | HPD | c.831+16C= (n.831+16C=) c.714+16C= (n.714+16C=) | |
| 12 | g.121846846G>T | CA2740097596 | HPD | c.831+16C>A (n.831+16C>A) c.714+16C>A (n.714+16C>A) | ClinVar |
| 12 | g.121846847G>A | CA684565167 | HPD | c.831+15C>T (n.831+15C>T) c.714+15C>T (n.714+15C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121846847G= | CA2068077749 | HPD | c.831+15C= (n.831+15C=) c.714+15C= (n.714+15C=) | |
| 12 | g.121846849A= | CA2068077751 | HPD | c.831+13T= (n.831+13T=) c.714+13T= (n.714+13T=) | |
| 12 | g.121846849A>G | CA2068077752 | HPD | c.831+13T>C (n.831+13T>C) c.714+13T>C (n.714+13T>C) | dbSNP |
| 12 | g.121846849A>T | CA2575327670 | HPD | c.831+13T>A (n.831+13T>A) c.714+13T>A (n.714+13T>A) | |
| 12 | g.121846850G>A | CA607929853 | HPD | c.831+12C>T (n.831+12C>T) c.714+12C>T (n.714+12C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.121846850G= | CA2068077755 | HPD | c.831+12C= (n.831+12C=) c.714+12C= (n.714+12C=) | |
| 12 | g.121846851G>A | CA607929854 | HPD | c.831+11C>T (n.831+11C>T) c.714+11C>T (n.714+11C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.121846851G>C | CA6839521 | HPD | c.831+11C>G (n.831+11C>G) c.714+11C>G (n.714+11C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121846851G= | CA2068077761 | HPD | c.831+11C= (n.831+11C=) c.714+11C= (n.714+11C=) | |
| 12 | g.121846851G>T | CA2621466313 | HPD | c.831+11C>A (n.831+11C>A) c.714+11C>A (n.714+11C>A) | gnomAD v4 |
| 12 | g.121846852G>C | CA2797754722 | HPD | c.831+10C>G (n.831+10C>G) c.714+10C>G (n.714+10C>G) | |
| 12 | g.121846852G= | CA2068077789 | HPD | c.831+10C= (n.831+10C=) c.714+10C= (n.714+10C=) | |
| 12 | g.121846852G>T | CA607929855 | HPD | c.831+10C>A (n.831+10C>A) c.714+10C>A (n.714+10C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.121846853G>A | CA684565174 | HPD | c.831+9C>T (n.831+9C>T) c.714+9C>T (n.714+9C>T) | ClinVar dbSNP |
| 12 | g.121846853G= | CA2068077796 | HPD | c.831+9C= (n.831+9C=) c.714+9C= (n.714+9C=) | |
| 12 | g.121846853G>T | CA2740097597 | HPD | c.831+9C>A (n.831+9C>A) c.714+9C>A (n.714+9C>A) | ClinVar |
| 12 | g.121846854G>A | CA684565176 | HPD | c.831+8C>T (n.831+8C>T) c.714+8C>T (n.714+8C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121846854G= | CA2068077800 | HPD | c.831+8C= (n.831+8C=) c.714+8C= (n.714+8C=) | |
| 12 | g.121846854G>T | CA2068077801 | HPD | c.831+8C>A (n.831+8C>A) c.714+8C>A (n.714+8C>A) | dbSNP gnomAD v4 |
| 12 | g.121846855T>A | CA2740097598 | HPD | c.831+7A>T (n.831+7A>T) c.714+7A>T (n.714+7A>T) | ClinVar |
| 12 | g.121846857C>T | CA912973580 | HPD | c.831+5G>A (n.831+5G>A) c.714+5G>A (n.714+5G>A) | |
| 12 | g.121846859A>C | CA2575327671 | HPD | c.831+3T>G (n.831+3T>G) c.714+3T>G (n.714+3T>G) | gnomAD v4 |
| 12 | g.121846860A>C | CA387012360 | HPD | c.831+2T>G (n.831+2T>G) c.714+2T>G (n.714+2T>G) | |
| 12 | g.121846860A>G | CA387012363 | HPD | c.831+2T>C (n.831+2T>C) c.714+2T>C (n.714+2T>C) | |
| 12 | g.121846860A>T | CA387012366 | HPD | c.831+2T>A (n.831+2T>A) c.714+2T>A (n.714+2T>A) | |
| 12 | g.121846861C>A | CA387012370 | HPD | c.831+1G>T (n.831+1G>T) c.714+1G>T (n.714+1G>T) | |
| 12 | g.121846861C>G | CA387012376 | HPD | c.831+1G>C (n.831+1G>C) c.714+1G>C (n.714+1G>C) | |
| 12 | g.121846861C>T | CA387012373 | HPD | c.831+1G>A (n.831+1G>A) c.714+1G>A (n.714+1G>A) | |
| 12 | g.121846862del | CA2621466332 | HPD | c.831+1del c.714+1del | gnomAD v4 |
| 12 | g.121846862C>A | CA482193243 | HPD | c.831G>T (p.Ala277=) c.714G>T (p.Ala238=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.121846862C= | CA2068077806 | HPD | c.831G= (p.Ala277=) c.714G= (p.Ala238=) | |
| 12 | g.121846862C>G | CA482193244 | HPD | c.831G>C (p.Ala277=) c.714G>C (p.Ala238=) | |
| 12 | g.121846862C>T | CA6839522 | HPD | c.831G>A (p.Ala277=) c.714G>A (p.Ala238=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.121846863G>A | CA6839523 | HPD | c.830C>T (p.Ala277Val) c.713C>T (p.Ala238Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121846863G>C | CA387012385 | HPD | c.830C>G (p.Ala277Gly) c.713C>G (p.Ala238Gly) | |
| 12 | g.121846863G= | CA2068077817 | HPD | c.830C= (p.Ala277=) c.713C= (p.Ala238=) | |
| 12 | g.121846863G>T | CA387012389 | HPD | c.830C>A (p.Ala277Glu) c.713C>A (p.Ala238Glu) | COSMIC |
| 12 | g.121846864C>A | CA387012392 | HPD | c.829G>T (p.Ala277Ser) c.712G>T (p.Ala238Ser) | |
| 12 | g.121846864C>G | CA387012401 | HPD | c.829G>C (p.Ala277Pro) c.712G>C (p.Ala238Pro) | |
| 12 | g.121846864C>T | CA387012409 | HPD | c.829G>A (p.Ala277Thr) c.712G>A (p.Ala238Thr) | |
| 12 | g.121846865T>A | CA482193246 | HPD | c.828A>T (p.Thr276=) c.711A>T (p.Thr237=) | |
| 12 | g.121846865T>C | CA482193247 | HPD | c.828A>G (p.Thr276=) c.711A>G (p.Thr237=) | |
| 12 | g.121846865T>G | CA482193245 | HPD | c.828A>C (p.Thr276=) c.711A>C (p.Thr237=) | |
| 12 | g.121846866G>A | CA387012413 | HPD | c.827C>T (p.Thr276Ile) c.710C>T (p.Thr237Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121846866G>C | CA387012415 | HPD | c.827C>G (p.Thr276Arg) c.710C>G (p.Thr237Arg) | gnomAD v4 |
| 12 | g.121846866G= | CA2068077823 | HPD | c.827C= (p.Thr276=) c.710C= (p.Thr237=) | |
| 12 | g.121846866G>T | CA387012420 | HPD | c.827C>A (p.Thr276Lys) c.710C>A (p.Thr237Lys) | |
| 12 | g.121846867T>A | CA387012432 | HPD | c.826A>T (p.Thr276Ser) c.709A>T (p.Thr237Ser) | |
| 12 | g.121846867T>C | CA387012428 | HPD | c.826A>G (p.Thr276Ala) c.709A>G (p.Thr237Ala) | gnomAD v4 |
| 12 | g.121846867T>G | CA387012424 | HPD | c.826A>C (p.Thr276Pro) c.709A>C (p.Thr237Pro) | |
| 12 | g.121846872_121846874del | CA2575327674 | HPD | c.824_826del (p.Ile275del) c.707_709del (p.Ile236del) | |
| 12 | g.121846868G>A | CA482193248 | HPD | c.825C>T (p.Ile275=) c.708C>T (p.Ile236=) | gnomAD v4 |
| 12 | g.121846868G>C | CA387012437 | HPD | c.825C>G (p.Ile275Met) c.708C>G (p.Ile236Met) | |
| 12 | g.121846868G>T | CA482193249 | HPD | c.825C>A (p.Ile275=) c.708C>A (p.Ile236=) | |
| 12 | g.121846869A= | CA2068077828 | HPD | c.824T= (p.Ile275=) c.707T= (p.Ile236=) | |
| 12 | g.121846869A>C | CA387012449 | HPD | c.824T>G (p.Ile275Ser) c.707T>G (p.Ile236Ser) | |
| 12 | g.121846869A>G | CA244671188 | HPD | c.824T>C (p.Ile275Thr) c.707T>C (p.Ile236Thr) | dbSNP |
| 12 | g.121846869A>T | CA387012450 | HPD | c.824T>A (p.Ile275Asn) c.707T>A (p.Ile236Asn) | |
| 12 | g.121846870T>A | CA387012453 | HPD | c.823A>T (p.Ile275Phe) c.706A>T (p.Ile236Phe) | |
| 12 | g.121846870T>C | CA6839524 | HPD | c.823A>G (p.Ile275Val) c.706A>G (p.Ile236Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121846870T>G | CA387012457 | HPD | c.823A>C (p.Ile275Leu) c.706A>C (p.Ile236Leu) | |
| 12 | g.121846870T= | CA2068077842 | HPD | c.823A= (p.Ile275=) c.706A= (p.Ile236=) | |
| 12 | g.121846871G>A | CA482193250 | HPD | c.822C>T (p.Ile274=) c.705C>T (p.Ile235=) | |
| 12 | g.121846871G>C | CA387012464 | HPD | c.822C>G (p.Ile274Met) c.705C>G (p.Ile235Met) | |
| 12 | g.121846871G>T | CA482193251 | HPD | c.822C>A (p.Ile274=) c.705C>A (p.Ile235=) | |
| 12 | g.121846872A= | CA2068077851 | HPD | c.821T= (p.Ile274=) c.704T= (p.Ile235=) | |
| 12 | g.121846872A>C | CA387012473 | HPD | c.821T>G (p.Ile274Ser) c.704T>G (p.Ile235Ser) | |
| 12 | g.121846872A>G | CA387012480 | HPD | c.821T>C (p.Ile274Thr) c.704T>C (p.Ile235Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121846872A>T | CA387012483 | HPD | c.821T>A (p.Ile274Asn) c.704T>A (p.Ile235Asn) | dbSNP gnomAD v4 |
| 12 | g.121846873T>A | CA387012488 | HPD | c.820A>T (p.Ile274Phe) c.703A>T (p.Ile235Phe) | |
| 12 | g.121846873T>C | CA244671196 | HPD | c.820A>G (p.Ile274Val) c.703A>G (p.Ile235Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121846873T>G | CA387012493 | HPD | c.820A>C (p.Ile274Leu) c.703A>C (p.Ile235Leu) | |
| 12 | g.121846873T= | CA2068077859 | HPD | c.820A= (p.Ile274=) c.703A= (p.Ile235=) | |
| 12 | g.121846874G>A | CA482193252 | HPD | c.819C>T (p.Asp273=) c.702C>T (p.Asp234=) | |
| 12 | g.121846874G>C | CA387012497 | HPD | c.819C>G (p.Asp273Glu) c.702C>G (p.Asp234Glu) | |
| 12 | g.121846874G>T | CA387012500 | HPD | c.819C>A (p.Asp273Glu) c.702C>A (p.Asp234Glu) | |
| 12 | g.121846875T>A | CA387012504 | HPD | c.818A>T (p.Asp273Val) c.701A>T (p.Asp234Val) | |
| 12 | g.121846875T>C | CA387012508 | HPD | c.818A>G (p.Asp273Gly) c.701A>G (p.Asp234Gly) | |
| 12 | g.121846875T>G | CA387012509 | HPD | c.818A>C (p.Asp273Ala) c.701A>C (p.Asp234Ala) | |
| 12 | g.121846876C>A | CA387012513 | HPD | c.817G>T (p.Asp273Tyr) c.700G>T (p.Asp234Tyr) | |
| 12 | g.121846876C>G | CA387012510 | HPD | c.817G>C (p.Asp273His) c.700G>C (p.Asp234His) | |
| 12 | g.121846876C>T | CA387012511 | HPD | c.817G>A (p.Asp273Asn) c.700G>A (p.Asp234Asn) | |
| 12 | g.121846877T>A | CA387012517 | HPD | c.816A>T (p.Glu272Asp) c.699A>T (p.Glu233Asp) | |
| 12 | g.121846877T>C | CA482193253 | HPD | c.816A>G (p.Glu272=) c.699A>G (p.Glu233=) | |
| 12 | g.121846877T>G | CA387012528 | HPD | c.816A>C (p.Glu272Asp) c.699A>C (p.Glu233Asp) | |
| 12 | g.121846878T>A | CA387012532 | HPD | c.815A>T (p.Glu272Val) c.698A>T (p.Glu233Val) | |
| 12 | g.121846878T>C | CA6839525 | HPD | c.815A>G (p.Glu272Gly) c.698A>G (p.Glu233Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121846878T>G | CA387012541 | HPD | c.815A>C (p.Glu272Ala) c.698A>C (p.Glu233Ala) | |
| 12 | g.121846878T= | CA2068077863 | HPD | c.815A= (p.Glu272=) c.698A= (p.Glu233=) | |
| 12 | g.121846879C>A | CA387012542 | HPD | c.814G>T (p.Glu272Ter) c.697G>T (p.Glu233Ter) | gnomAD v4 |
| 12 | g.121846879C= | CA2068077867 | HPD | c.814G= (p.Glu272=) c.697G= (p.Glu233=) | |
| 12 | g.121846879C>G | CA387012543 | HPD | c.814G>C (p.Glu272Gln) c.697G>C (p.Glu233Gln) | |
| 12 | g.121846879C>T | CA6839526 | HPD | c.814G>A (p.Glu272Lys) c.697G>A (p.Glu233Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121846880G>A | CA6839527 | HPD | c.813C>T (p.Thr271=) c.696C>T (p.Thr232=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121846880G>C | CA482193259 | HPD | c.813C>G (p.Thr271=) c.696C>G (p.Thr232=) | dbSNP |
| 12 | g.121846880G= | CA2068077875 | HPD | c.813C= (p.Thr271=) c.696C= (p.Thr232=) | |
| 12 | g.121846880G>T | CA482193258 | HPD | c.813C>A (p.Thr271=) c.696C>A (p.Thr232=) | |
| 12 | g.121846881G>A | CA387012547 | HPD | c.812C>T (p.Thr271Ile) c.695C>T (p.Thr232Ile) | |
| 12 | g.121846881G>C | CA387012550 | HPD | c.812C>G (p.Thr271Ser) c.695C>G (p.Thr232Ser) | |
| 12 | g.121846881G>T | CA387012555 | HPD | c.812C>A (p.Thr271Asn) c.695C>A (p.Thr232Asn) | |
| 12 | g.121846882T>A | CA387012565 | HPD | c.811A>T (p.Thr271Ser) c.694A>T (p.Thr232Ser) | |
| 12 | g.121846882T>C | CA387012562 | HPD | c.811A>G (p.Thr271Ala) c.694A>G (p.Thr232Ala) | |
| 12 | g.121846882T>G | CA387012559 | HPD | c.811A>C (p.Thr271Pro) c.694A>C (p.Thr232Pro) | |
| 12 | g.121846883C>A | CA387012571 | HPD | c.810G>T (p.Lys270Asn) c.693G>T (p.Lys231Asn) | |
| 12 | g.121846883C= | CA2068077882 | HPD | c.810G= (p.Lys270=) c.693G= (p.Lys231=) | |
| 12 | g.121846883C>G | CA387012568 | HPD | c.810G>C (p.Lys270Asn) c.693G>C (p.Lys231Asn) | dbSNP |
| 12 | g.121846883C>T | CA482193260 | HPD | c.810G>A (p.Lys270=) c.693G>A (p.Lys231=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121846884T>A | CA387012574 | HPD | c.809A>T (p.Lys270Met) c.692A>T (p.Lys231Met) | |
| 12 | g.121846884T>C | CA387012576 | HPD | c.809A>G (p.Lys270Arg) c.692A>G (p.Lys231Arg) | |
| 12 | g.121846884T>G | CA387012579 | HPD | c.809A>C (p.Lys270Thr) c.692A>C (p.Lys231Thr) | |
| 12 | g.121846885T>A | CA387012583 | HPD | c.808A>T (p.Lys270Ter) c.691A>T (p.Lys231Ter) | |
| 12 | g.121846885T>C | CA387012585 | HPD | c.808A>G (p.Lys270Glu) c.691A>G (p.Lys231Glu) | |
| 12 | g.121846885T>G | CA387012588 | HPD | c.808A>C (p.Lys270Gln) c.691A>C (p.Lys231Gln) | |
| 12 | g.121846886G>A | CA482193261 | HPD | c.807C>T (p.Leu269=) c.690C>T (p.Leu230=) | |
| 12 | g.121846886G>C | CA482193262 | HPD | c.807C>G (p.Leu269=) c.690C>G (p.Leu230=) | gnomAD v4 |
| 12 | g.121846886G>T | CA482193263 | HPD | c.807C>A (p.Leu269=) c.690C>A (p.Leu230=) | |
| 12 | g.121846887A= | CA2068077884 | HPD | c.806T= (p.Leu269=) c.689T= (p.Leu230=) | |
| 12 | g.121846887A>C | CA387012591 | HPD | c.806T>G (p.Leu269Arg) c.689T>G (p.Leu230Arg) | |
| 12 | g.121846887A>G | CA387012595 | HPD | c.806T>C (p.Leu269Pro) c.689T>C (p.Leu230Pro) | |
| 12 | g.121846887A>T | CA387012598 | HPD | c.806T>A (p.Leu269His) c.689T>A (p.Leu230His) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.121846888G>A | CA387012603 | HPD | c.805C>T (p.Leu269Phe) c.688C>T (p.Leu230Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.121846888G>C | CA387012605 | HPD | c.805C>G (p.Leu269Val) c.688C>G (p.Leu230Val) | |
| 12 | g.121846888G= | CA2068077888 | HPD | c.805C= (p.Leu269=) c.688C= (p.Leu230=) | |
| 12 | g.121846888G>T | CA387012606 | HPD | c.805C>A (p.Leu269Ile) c.688C>A (p.Leu230Ile) | |
| 12 | g.121846889A>C | CA482193264 | HPD | c.804T>G (p.Ala268=) c.687T>G (p.Ala229=) | |
| 12 | g.121846889A>G | CA482193265 | HPD | c.804T>C (p.Ala268=) c.687T>C (p.Ala229=) | |
| 12 | g.121846889A>T | CA482193267 | HPD | c.804T>A (p.Ala268=) c.687T>A (p.Ala229=) | |
| 12 | g.121846890G>A | CA387012617 | HPD | c.803C>T (p.Ala268Val) c.686C>T (p.Ala229Val) | |
| 12 | g.121846890G>C | CA387012612 | HPD | c.803C>G (p.Ala268Gly) c.686C>G (p.Ala229Gly) | |
| 12 | g.121846890G>T | CA387012614 | HPD | c.803C>A (p.Ala268Asp) c.686C>A (p.Ala229Asp) | |
| 12 | g.121846891C>A | CA387012619 | HPD | c.802G>T (p.Ala268Ser) c.685G>T (p.Ala229Ser) | |
| 12 | g.121846891C= | CA2068077893 | HPD | c.802G= (p.Ala268=) c.685G= (p.Ala229=) | |
| 12 | g.121846891C>G | CA387012622 | HPD | c.802G>C (p.Ala268Pro) c.685G>C (p.Ala229Pro) | |
| 12 | g.121846891C>T | CA244671215 | HPD | c.802G>A (p.Ala268Thr) c.685G>A (p.Ala229Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121846892G>A | CA6839528 | HPD | c.801C>T (p.Ile267=) c.684C>T (p.Ile228=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121846892G>C | CA387012632 | HPD | c.801C>G (p.Ile267Met) c.684C>G (p.Ile228Met) | |
| 12 | g.121846892G= | CA2068077896 | HPD | c.801C= (p.Ile267=) c.684C= (p.Ile228=) | |
| 12 | g.121846892G>T | CA482193268 | HPD | c.801C>A (p.Ile267=) c.684C>A (p.Ile228=) | gnomAD v4 |
| 12 | g.121846893A>C | CA387012638 | HPD | c.800T>G (p.Ile267Ser) c.683T>G (p.Ile228Ser) | |
| 12 | g.121846893A>G | CA387012639 | HPD | c.800T>C (p.Ile267Thr) c.683T>C (p.Ile228Thr) | |
| 12 | g.121846893A>T | CA387012640 | HPD | c.800T>A (p.Ile267Asn) c.683T>A (p.Ile228Asn) | |
| 12 | g.121846894T>A | CA387012641 | HPD | c.799A>T (p.Ile267Phe) c.682A>T (p.Ile228Phe) | |
| 12 | g.121846894T>C | CA387012642 | HPD | c.799A>G (p.Ile267Val) c.682A>G (p.Ile228Val) | |
| 12 | g.121846894T>G | CA387012643 | HPD | c.799A>C (p.Ile267Leu) c.682A>C (p.Ile228Leu) | |
| 12 | g.121846895G>A | CA482193271 | HPD | c.798C>T (p.His266=) c.681C>T (p.His227=) | ClinVar gnomAD v4 |
| 12 | g.121846895G>C | CA387012646 | HPD | c.798C>G (p.His266Gln) c.681C>G (p.His227Gln) | |
| 12 | g.121846895G>T | CA387012649 | HPD | c.798C>A (p.His266Gln) c.681C>A (p.His227Gln) | |
| 12 | g.121846896T>A | CA387012653 | HPD | c.797A>T (p.His266Leu) c.680A>T (p.His227Leu) | |
| 12 | g.121846896T>C | CA6839529 | HPD | c.797A>G (p.His266Arg) c.680A>G (p.His227Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121846896T>G | CA387012651 | HPD | c.797A>C (p.His266Pro) c.680A>C (p.His227Pro) | |
| 12 | g.121846896T= | CA2068077902 | HPD | c.797A= (p.His266=) c.680A= (p.His227=) | |
| 12 | g.121846897G>A | CA387012662 | HPD | c.796C>T (p.His266Tyr) c.679C>T (p.His227Tyr) | |
| 12 | g.121846897G>C | CA387012666 | HPD | c.796C>G (p.His266Asp) c.679C>G (p.His227Asp) | |
| 12 | g.121846897G>T | CA387012668 | HPD | c.796C>A (p.His266Asn) c.679C>A (p.His227Asn) | |
| 12 | g.121846898C>A | CA387012672 | HPD | c.795G>T (p.Gln265His) c.678G>T (p.Gln226His) | gnomAD v4 |
| 12 | g.121846898C= | CA2068077904 | HPD | c.795G= (p.Gln265=) c.678G= (p.Gln226=) | |
| 12 | g.121846898C>G | CA387012675 | HPD | c.795G>C (p.Gln265His) c.678G>C (p.Gln226His) | |
| 12 | g.121846898C>T | CA482193274 | HPD | c.795G>A (p.Gln265=) c.678G>A (p.Gln226=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121846899T>A | CA387012683 | HPD | c.794A>T (p.Gln265Leu) c.677A>T (p.Gln226Leu) | |
| 12 | g.121846899T>C | CA387012681 | HPD | c.794A>G (p.Gln265Arg) c.677A>G (p.Gln226Arg) | |
| 12 | g.121846899T>G | CA387012679 | HPD | c.794A>C (p.Gln265Pro) c.677A>C (p.Gln226Pro) | |
| 12 | g.121846900G>A | CA387012690 | HPD | c.793C>T (p.Gln265Ter) c.676C>T (p.Gln226Ter) | |
| 12 | g.121846900G>C | CA387012694 | HPD | c.793C>G (p.Gln265Glu) c.676C>G (p.Gln226Glu) | |
| 12 | g.121846900G>T | CA387012697 | HPD | c.793C>A (p.Gln265Lys) c.676C>A (p.Gln226Lys) | |
| 12 | g.121846901G>A | CA482193279 | HPD | c.792C>T (p.Val264=) c.675C>T (p.Val225=) | |
| 12 | g.121846901G>C | CA482193281 | HPD | c.792C>G (p.Val264=) c.675C>G (p.Val225=) | |
| 12 | g.121846901G>T | CA482193283 | HPD | c.792C>A (p.Val264=) c.675C>A (p.Val225=) | |
| 12 | g.121846902A= | CA2068077911 | HPD | c.791T= (p.Val264=) c.674T= (p.Val225=) | |
| 12 | g.121846902A>C | CA387012704 | HPD | c.791T>G (p.Val264Gly) c.674T>G (p.Val225Gly) | |
| 12 | g.121846902A>G | CA387012707 | HPD | c.791T>C (p.Val264Ala) c.674T>C (p.Val225Ala) | gnomAD v4 |
| 12 | g.121846902A>T | CA6839530 | HPD | c.791T>A (p.Val264Asp) c.674T>A (p.Val225Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.121846903C>A | CA387012738 | HPD | c.790G>T (p.Val264Phe) c.673G>T (p.Val225Phe) | |
| 12 | g.121846903C>G | CA387012730 | HPD | c.790G>C (p.Val264Leu) c.673G>C (p.Val225Leu) | |
| 12 | g.121846903C>T | CA387012735 | HPD | c.790G>A (p.Val264Ile) c.673G>A (p.Val225Ile) | gnomAD v4 |
| 12 | g.121846904C>A | CA482193285 | HPD | c.789G>T (p.Gly263=) c.672G>T (p.Gly224=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121846904C= | CA2068077917 | HPD | c.789G= (p.Gly263=) c.672G= (p.Gly224=) | |
| 12 | g.121846904C>G | CA482193286 | HPD | c.789G>C (p.Gly263=) c.672G>C (p.Gly224=) | gnomAD v4 |
| 12 | g.121846904C>T | CA482193287 | HPD | c.789G>A (p.Gly263=) c.672G>A (p.Gly224=) | |
| 12 | g.121846905C>A | CA387012742 | HPD | c.788G>T (p.Gly263Val) c.671G>T (p.Gly224Val) | |
| 12 | g.121846905C>G | CA387012743 | HPD | c.788G>C (p.Gly263Ala) c.671G>C (p.Gly224Ala) | |
| 12 | g.121846905C>T | CA387012744 | HPD | c.788G>A (p.Gly263Glu) c.671G>A (p.Gly224Glu) | |
| 12 | g.121846906C>A | CA387012745 | HPD | c.787G>T (p.Gly263Trp) c.670G>T (p.Gly224Trp) | |
| 12 | g.121846906C>G | CA387012746 | HPD | c.787G>C (p.Gly263Arg) c.670G>C (p.Gly224Arg) | |
| 12 | g.121846906C>T | CA387012749 | HPD | c.787G>A (p.Gly263Arg) c.670G>A (p.Gly224Arg) | |
| 12 | g.121846907A>C | CA482193291 | HPD | c.786T>G (p.Ala262=) c.669T>G (p.Ala223=) | |
| 12 | g.121846907A>G | CA482193293 | HPD | c.786T>C (p.Ala262=) c.669T>C (p.Ala223=) | |
| 12 | g.121846907A>T | CA482193292 | HPD | c.786T>A (p.Ala262=) c.669T>A (p.Ala223=) | COSMIC |
| 12 | g.121846908G>A | CA387012753 | HPD | c.785C>T (p.Ala262Val) c.668C>T (p.Ala223Val) | |
| 12 | g.121846908G>C | CA387012757 | HPD | c.785C>G (p.Ala262Gly) c.668C>G (p.Ala223Gly) | |
| 12 | g.121846908G>T | CA387012760 | HPD | c.785C>A (p.Ala262Asp) c.668C>A (p.Ala223Asp) | |
| 12 | g.121846909C>A | CA387012766 | HPD | c.784G>T (p.Ala262Ser) c.667G>T (p.Ala223Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121846909C= | CA2068077925 | HPD | c.784G= (p.Ala262=) c.667G= (p.Ala223=) | |
| 12 | g.121846909C>G | CA6839532 | HPD | c.784G>C (p.Ala262Pro) c.667G>C (p.Ala223Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.121846909C>T | CA6839531 | HPD | c.784G>A (p.Ala262Thr) c.667G>A (p.Ala223Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.121846910G>A | CA6839533 | HPD | c.783C>T (p.Gly261=) c.666C>T (p.Gly222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121846910G>C | CA482193298 | HPD | c.783C>G (p.Gly261=) c.666C>G (p.Gly222=) | |
| 12 | g.121846910G= | CA2068077929 | HPD | c.783C= (p.Gly261=) c.666C= (p.Gly222=) | |
| 12 | g.121846910G>T | CA482193301 | HPD | c.783C>A (p.Gly261=) c.666C>A (p.Gly222=) | |
| 12 | g.121846911C>A | CA387012774 | HPD | c.782G>T (p.Gly261Val) c.665G>T (p.Gly222Val) | |
| 12 | g.121846911C= | CA2068077934 | HPD | c.782G= (p.Gly261=) c.665G= (p.Gly222=) | |
| 12 | g.121846911C>G | CA387012781 | HPD | c.782G>C (p.Gly261Ala) c.665G>C (p.Gly222Ala) | |
| 12 | g.121846911C>T | CA387012776 | HPD | c.782G>A (p.Gly261Asp) c.665G>A (p.Gly222Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121846915dup | CA2797754723 | HPD | c.782dup (p.Ala262ArgfsTer?) c.665dup (p.Ala223ArgfsTer?) | |
| 12 | g.121846912C>A | CA387012785 | HPD | c.781G>T (p.Gly261Cys) c.664G>T (p.Gly222Cys) | dbSNP gnomAD v4 |
| 12 | g.121846912C= | CA2068077936 | HPD | c.781G= (p.Gly261=) c.664G= (p.Gly222=) | |
| 12 | g.121846912C>G | CA387012789 | HPD | c.781G>C (p.Gly261Arg) c.664G>C (p.Gly222Arg) | |
| 12 | g.121846912C>T | CA387012793 | HPD | c.781G>A (p.Gly261Ser) c.664G>A (p.Gly222Ser) | |
| 12 | g.121846913C>A | CA482193303 | HPD | c.780G>T (p.Gly260=) c.663G>T (p.Gly221=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.121846913C= | CA2068077937 | HPD | c.780G= (p.Gly260=) c.663G= (p.Gly221=) | |
| 12 | g.121846913C>G | CA482193304 | HPD | c.780G>C (p.Gly260=) c.663G>C (p.Gly221=) | COSMIC |
| 12 | g.121846913C>T | CA482193305 | HPD | c.780G>A (p.Gly260=) c.663G>A (p.Gly221=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121846914C>A | CA387012797 | HPD | c.779G>T (p.Gly260Val) c.662G>T (p.Gly221Val) | |
| 12 | g.121846914C>G | CA387012798 | HPD | c.779G>C (p.Gly260Ala) c.662G>C (p.Gly221Ala) | |
| 12 | g.121846914C>T | CA387012801 | HPD | c.779G>A (p.Gly260Glu) c.662G>A (p.Gly221Glu) | |
| 12 | g.121846916_121846925del | CA2575327680 | HPD | c.770_779del (p.Asp257GlyfsTer22) c.653_662del (p.Asp218GlyfsTer22) | |
| 12 | g.121846915C>A | CA387012804 | HPD | c.778G>T (p.Gly260Trp) c.661G>T (p.Gly221Trp) | |
| 12 | g.121846915C= | CA2068077942 | HPD | c.778G= (p.Gly260=) c.661G= (p.Gly221=) | |
| 12 | g.121846915C>G | CA387012806 | HPD | c.778G>C (p.Gly260Arg) c.661G>C (p.Gly221Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121846915C>T | CA6839534 | HPD | c.778G>A (p.Gly260Arg) c.661G>A (p.Gly221Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.121846916G>A | CA6839535 | HPD | c.777C>T (p.Asn259=) c.660C>T (p.Asn220=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121846916G>C | CA387012816 | HPD | c.777C>G (p.Asn259Lys) c.660C>G (p.Asn220Lys) | gnomAD v4 |
| 12 | g.121846916G= | CA2068077951 | HPD | c.777C= (p.Asn259=) c.660C= (p.Asn220=) | |
| 12 | g.121846916G>T | CA6839536 | HPD | c.777C>A (p.Asn259Lys) c.660C>A (p.Asn220Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.121846917T>A | CA387012830 | HPD | c.776A>T (p.Asn259Ile) c.659A>T (p.Asn220Ile) | |
| 12 | g.121846917T>C | CA387012825 | HPD | c.776A>G (p.Asn259Ser) c.659A>G (p.Asn220Ser) | |
| 12 | g.121846917T>G | CA387012828 | HPD | c.776A>C (p.Asn259Thr) c.659A>C (p.Asn220Thr) | |
| 12 | g.121846917T= | CA2068077952 | HPD | c.776A= (p.Asn259=) c.659A= (p.Asn220=) | |
| 12 | g.121846917_121846918insA | CA244671240 | HPD | c.775_776insT (p.Asn259IlefsTer?) c.658_659insT (p.Asn220IlefsTer?) | dbSNP |
| 12 | g.121846918T>A | CA387012839 | HPD | c.775A>T (p.Asn259Tyr) c.658A>T (p.Asn220Tyr) | |
| 12 | g.121846918T>C | CA387012842 | HPD | c.775A>G (p.Asn259Asp) c.658A>G (p.Asn220Asp) | |
| 12 | g.121846918T>G | CA387012845 | HPD | c.775A>C (p.Asn259His) c.658A>C (p.Asn220His) | |
| 12 | g.121846919A= | CA2068077955 | HPD | c.774T= (p.Tyr258=) c.657T= (p.Tyr219=) | |
| 12 | g.121846919A>C | CA115059 | HPD | c.774T>G (p.Tyr258Ter) c.657T>G (p.Tyr219Ter) | ClinVar dbSNP |
| 12 | g.121846919A>G | CA482193311 | HPD | c.774T>C (p.Tyr258=) c.657T>C (p.Tyr219=) | |
| 12 | g.121846919A>T | CA387012848 | HPD | c.774T>A (p.Tyr258Ter) c.657T>A (p.Tyr219Ter) | |
| 12 | g.121846920T>A | CA387012853 | HPD | c.773A>T (p.Tyr258Phe) c.656A>T (p.Tyr219Phe) | |
| 12 | g.121846920T>C | CA387012856 | HPD | c.773A>G (p.Tyr258Cys) c.656A>G (p.Tyr219Cys) | |
| 12 | g.121846920T>G | CA387012868 | HPD | c.773A>C (p.Tyr258Ser) c.656A>C (p.Tyr219Ser) | |
| 12 | g.121846921A>C | CA387012873 | HPD | c.772T>G (p.Tyr258Asp) c.655T>G (p.Tyr219Asp) | |
| 12 | g.121846921A>G | CA387012876 | HPD | c.772T>C (p.Tyr258His) c.655T>C (p.Tyr219His) | gnomAD v4 |
| 12 | g.121846921A>T | CA387012880 | HPD | c.772T>A (p.Tyr258Asn) c.655T>A (p.Tyr219Asn) | |
| 12 | g.121846922G>A | CA482193317 | HPD | c.771C>T (p.Asp257=) c.654C>T (p.Asp218=) | |
| 12 | g.121846922G>C | CA387012884 | HPD | c.771C>G (p.Asp257Glu) c.654C>G (p.Asp218Glu) | |
| 12 | g.121846922G>T | CA387012887 | HPD | c.771C>A (p.Asp257Glu) c.654C>A (p.Asp218Glu) | |
| 12 | g.121846923T>A | CA387012891 | HPD | c.770A>T (p.Asp257Val) c.653A>T (p.Asp218Val) | |
| 12 | g.121846923T>C | CA387012901 | HPD | c.770A>G (p.Asp257Gly) c.653A>G (p.Asp218Gly) | gnomAD v4 |
| 12 | g.121846923T>G | CA387012894 | HPD | c.770A>C (p.Asp257Ala) c.653A>C (p.Asp218Ala) | |
| 12 | g.121846924C>A | CA387012906 | HPD | c.769G>T (p.Asp257Tyr) c.652G>T (p.Asp218Tyr) | |
| 12 | g.121846924C>G | CA387012919 | HPD | c.769G>C (p.Asp257His) c.652G>C (p.Asp218His) | |
| 12 | g.121846924C>T | CA387012910 | HPD | c.769G>A (p.Asp257Asn) c.652G>A (p.Asp218Asn) |