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 |
|---|---|---|---|---|---|
| 13 | g.113118412_113118426dup | CA960396906 | F7 | c.740-1_753dup c.806-1_819dup c.554-1_567dup n.827-1_840dup c.599-1_612dup c.848-1_861dup c.662-1_675dup c.500-1_513dup c.809-1_822dup c.644-1_657dup c.893-1_906dup c.707-1_720dup n.824-1_837dup | gnomAD v3 gnomAD v4 |
| 13 | g.113118412_113118427delinsGGCGAGCACGACCTCA | CA2120141620 | F7 | c.740-1_754delinsGGCGAGCACGACCTCA c.806-1_820delinsGGCGAGCACGACCTCA c.554-1_568delinsGGCGAGCACGACCTCA n.827-1_841delinsGGCGAGCACGACCTCA c.599-1_613delinsGGCGAGCACGACCTCA c.848-1_862delinsGGCGAGCACGACCTCA c.662-1_676delinsGGCGAGCACGACCTCA c.500-1_514delinsGGCGAGCACGACCTCA c.809-1_823delinsGGCGAGCACGACCTCA c.644-1_658delinsGGCGAGCACGACCTCA c.893-1_907delinsGGCGAGCACGACCTCA c.707-1_721delinsGGCGAGCACGACCTCA n.824-1_838delinsGGCGAGCACGACCTCA | |
| 13 | g.113118424_113118438dup | CA2580616545 | F7 | c.751_765dup (p.Asp255_Gly256insLeuSerGluHisAsp) c.817_831dup (p.Asp277_Gly278insLeuSerGluHisAsp) c.565_579dup (p.Asp193_Gly194insLeuSerGluHisAsp) n.838_852dup c.610_624dup (p.Asp208_Gly209insLeuSerGluHisAsp) c.859_873dup (p.Asp291_Gly292insLeuSerGluHisAsp) c.673_687dup (p.Asp229_Gly230insLeuSerGluHisAsp) c.511_525dup (p.Asp175_Gly176insLeuSerGluHisAsp) c.820_834dup (p.Asp278_Gly279insLeuSerGluHisAsp) c.655_669dup (p.Asp223_Gly224insLeuSerGluHisAsp) c.904_918dup (p.Asp306_Gly307insLeuSerGluHisAsp) c.718_732dup (p.Asp244_Gly245insLeuSerGluHisAsp) n.835_849dup | ClinVar gnomAD v4 |
| 13 | g.113118424_113118438del | CA7060122 | F7 | c.751_765del (p.Leu251_Asp255del) c.817_831del (p.Leu273_Asp277del) c.565_579del (p.Leu189_Asp193del) n.838_852del c.610_624del (p.Leu204_Asp208del) c.859_873del (p.Leu287_Asp291del) c.673_687del (p.Leu225_Asp229del) c.511_525del (p.Leu171_Asp175del) c.820_834del (p.Leu274_Asp278del) c.655_669del (p.Leu219_Asp223del) c.904_918del (p.Leu302_Asp306del) c.718_732del (p.Leu240_Asp244del) n.835_849del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113118424C>A | CA388785786 | F7 | c.751C>A (p.Leu251Ile) c.817C>A (p.Leu273Ile) c.565C>A (p.Leu189Ile) n.838C>A c.610C>A (p.Leu204Ile) c.859C>A (p.Leu287Ile) c.673C>A (p.Leu225Ile) c.511C>A (p.Leu171Ile) c.820C>A (p.Leu274Ile) c.655C>A (p.Leu219Ile) c.904C>A (p.Leu302Ile) c.718C>A (p.Leu240Ile) n.835C>A | |
| 13 | g.113118424C>G | CA388785787 | F7 | c.751C>G (p.Leu251Val) c.817C>G (p.Leu273Val) c.565C>G (p.Leu189Val) n.838C>G c.610C>G (p.Leu204Val) c.859C>G (p.Leu287Val) c.673C>G (p.Leu225Val) c.511C>G (p.Leu171Val) c.820C>G (p.Leu274Val) c.655C>G (p.Leu219Val) c.904C>G (p.Leu302Val) c.718C>G (p.Leu240Val) n.835C>G | |
| 13 | g.113118424C>T | CA388785788 | F7 | c.751C>T (p.Leu251Phe) c.817C>T (p.Leu273Phe) c.565C>T (p.Leu189Phe) n.838C>T c.610C>T (p.Leu204Phe) c.859C>T (p.Leu287Phe) c.673C>T (p.Leu225Phe) c.511C>T (p.Leu171Phe) c.820C>T (p.Leu274Phe) c.655C>T (p.Leu219Phe) c.904C>T (p.Leu302Phe) c.718C>T (p.Leu240Phe) n.835C>T | gnomAD v4 COSMIC |
| 13 | g.113118425T>A | CA388785789 | F7 | c.752T>A (p.Leu251His) c.818T>A (p.Leu273His) c.566T>A (p.Leu189His) n.839T>A c.611T>A (p.Leu204His) c.860T>A (p.Leu287His) c.674T>A (p.Leu225His) c.512T>A (p.Leu171His) c.821T>A (p.Leu274His) c.656T>A (p.Leu219His) c.905T>A (p.Leu302His) c.719T>A (p.Leu240His) n.836T>A | |
| 13 | g.113118425T>C | CA388785790 | F7 | c.752T>C (p.Leu251Pro) c.818T>C (p.Leu273Pro) c.566T>C (p.Leu189Pro) n.839T>C c.611T>C (p.Leu204Pro) c.860T>C (p.Leu287Pro) c.674T>C (p.Leu225Pro) c.512T>C (p.Leu171Pro) c.821T>C (p.Leu274Pro) c.656T>C (p.Leu219Pro) c.905T>C (p.Leu302Pro) c.719T>C (p.Leu240Pro) n.836T>C | |
| 13 | g.113118425T>G | CA388785791 | F7 | c.752T>G (p.Leu251Arg) c.818T>G (p.Leu273Arg) c.566T>G (p.Leu189Arg) n.839T>G c.611T>G (p.Leu204Arg) c.860T>G (p.Leu287Arg) c.674T>G (p.Leu225Arg) c.512T>G (p.Leu171Arg) c.821T>G (p.Leu274Arg) c.656T>G (p.Leu219Arg) c.905T>G (p.Leu302Arg) c.719T>G (p.Leu240Arg) n.836T>G | |
| 13 | g.113118426C>A | CA485423820 | F7 | c.753C>A (p.Leu251=) c.819C>A (p.Leu273=) c.567C>A (p.Leu189=) n.840C>A c.612C>A (p.Leu204=) c.861C>A (p.Leu287=) c.675C>A (p.Leu225=) c.513C>A (p.Leu171=) c.822C>A (p.Leu274=) c.657C>A (p.Leu219=) c.906C>A (p.Leu302=) c.720C>A (p.Leu240=) n.837C>A | |
| 13 | g.113118426C= | CA2120141656 | F7 | c.753C= (p.Leu251=) c.819C= (p.Leu273=) c.567C= (p.Leu189=) n.840C= c.612C= (p.Leu204=) c.861C= (p.Leu287=) c.675C= (p.Leu225=) c.513C= (p.Leu171=) c.822C= (p.Leu274=) c.657C= (p.Leu219=) c.906C= (p.Leu302=) c.720C= (p.Leu240=) n.837C= | |
| 13 | g.113118426C>G | CA485423821 | F7 | c.753C>G (p.Leu251=) c.819C>G (p.Leu273=) c.567C>G (p.Leu189=) n.840C>G c.612C>G (p.Leu204=) c.861C>G (p.Leu287=) c.675C>G (p.Leu225=) c.513C>G (p.Leu171=) c.822C>G (p.Leu274=) c.657C>G (p.Leu219=) c.906C>G (p.Leu302=) c.720C>G (p.Leu240=) n.837C>G | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113118426C>T | CA485423822 | F7 | c.753C>T (p.Leu251=) c.819C>T (p.Leu273=) c.567C>T (p.Leu189=) n.840C>T c.612C>T (p.Leu204=) c.861C>T (p.Leu287=) c.675C>T (p.Leu225=) c.513C>T (p.Leu171=) c.822C>T (p.Leu274=) c.657C>T (p.Leu219=) c.906C>T (p.Leu302=) c.720C>T (p.Leu240=) n.837C>T | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113118427A= | CA2120141664 | F7 | c.754A= (p.Ser252=) c.820A= (p.Ser274=) c.568A= (p.Ser190=) n.841A= c.613A= (p.Ser205=) c.862A= (p.Ser288=) c.676A= (p.Ser226=) c.514A= (p.Ser172=) c.823A= (p.Ser275=) c.658A= (p.Ser220=) c.907A= (p.Ser303=) c.721A= (p.Ser241=) n.838A= | |
| 13 | g.113118427A>C | CA388785792 | F7 | c.754A>C (p.Ser252Arg) c.820A>C (p.Ser274Arg) c.568A>C (p.Ser190Arg) n.841A>C c.613A>C (p.Ser205Arg) c.862A>C (p.Ser288Arg) c.676A>C (p.Ser226Arg) c.514A>C (p.Ser172Arg) c.823A>C (p.Ser275Arg) c.658A>C (p.Ser220Arg) c.907A>C (p.Ser303Arg) c.721A>C (p.Ser241Arg) n.838A>C | |
| 13 | g.113118427A>G | CA7060129 | F7 | c.754A>G (p.Ser252Gly) c.820A>G (p.Ser274Gly) c.568A>G (p.Ser190Gly) n.841A>G c.613A>G (p.Ser205Gly) c.862A>G (p.Ser288Gly) c.676A>G (p.Ser226Gly) c.514A>G (p.Ser172Gly) c.823A>G (p.Ser275Gly) c.658A>G (p.Ser220Gly) c.907A>G (p.Ser303Gly) c.721A>G (p.Ser241Gly) n.838A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113118427A>T | CA388785793 | F7 | c.754A>T (p.Ser252Cys) c.820A>T (p.Ser274Cys) c.568A>T (p.Ser190Cys) n.841A>T c.613A>T (p.Ser205Cys) c.862A>T (p.Ser288Cys) c.676A>T (p.Ser226Cys) c.514A>T (p.Ser172Cys) c.823A>T (p.Ser275Cys) c.658A>T (p.Ser220Cys) c.907A>T (p.Ser303Cys) c.721A>T (p.Ser241Cys) n.838A>T | |
| 13 | g.113118428G>A | CA7060130 | F7 | c.755G>A (p.Ser252Asn) c.821G>A (p.Ser274Asn) c.569G>A (p.Ser190Asn) n.842G>A c.614G>A (p.Ser205Asn) c.863G>A (p.Ser288Asn) c.677G>A (p.Ser226Asn) c.515G>A (p.Ser172Asn) c.824G>A (p.Ser275Asn) c.659G>A (p.Ser220Asn) c.908G>A (p.Ser303Asn) c.722G>A (p.Ser241Asn) n.839G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113118428G>C | CA388785794 | F7 | c.755G>C (p.Ser252Thr) c.821G>C (p.Ser274Thr) c.569G>C (p.Ser190Thr) n.842G>C c.614G>C (p.Ser205Thr) c.863G>C (p.Ser288Thr) c.677G>C (p.Ser226Thr) c.515G>C (p.Ser172Thr) c.824G>C (p.Ser275Thr) c.659G>C (p.Ser220Thr) c.908G>C (p.Ser303Thr) c.722G>C (p.Ser241Thr) n.839G>C | |
| 13 | g.113118428G= | CA2120141674 | F7 | c.755G= (p.Ser252=) c.821G= (p.Ser274=) c.569G= (p.Ser190=) n.842G= c.614G= (p.Ser205=) c.863G= (p.Ser288=) c.677G= (p.Ser226=) c.515G= (p.Ser172=) c.824G= (p.Ser275=) c.659G= (p.Ser220=) c.908G= (p.Ser303=) c.722G= (p.Ser241=) n.839G= | |
| 13 | g.113118428G>T | CA388785795 | F7 | c.755G>T (p.Ser252Ile) c.821G>T (p.Ser274Ile) c.569G>T (p.Ser190Ile) n.842G>T c.614G>T (p.Ser205Ile) c.863G>T (p.Ser288Ile) c.677G>T (p.Ser226Ile) c.515G>T (p.Ser172Ile) c.824G>T (p.Ser275Ile) c.659G>T (p.Ser220Ile) c.908G>T (p.Ser303Ile) c.722G>T (p.Ser241Ile) n.839G>T | gnomAD v4 |
| 13 | g.113118429C>A | CA388785796 | F7 | c.756C>A (p.Ser252Arg) c.822C>A (p.Ser274Arg) c.570C>A (p.Ser190Arg) n.843C>A c.615C>A (p.Ser205Arg) c.864C>A (p.Ser288Arg) c.678C>A (p.Ser226Arg) c.516C>A (p.Ser172Arg) c.825C>A (p.Ser275Arg) c.660C>A (p.Ser220Arg) c.909C>A (p.Ser303Arg) c.723C>A (p.Ser241Arg) n.840C>A | dbSNP gnomAD v4 |
| 13 | g.113118429C= | CA2120141680 | F7 | c.756C= (p.Ser252=) c.822C= (p.Ser274=) c.570C= (p.Ser190=) n.843C= c.615C= (p.Ser205=) c.864C= (p.Ser288=) c.678C= (p.Ser226=) c.516C= (p.Ser172=) c.825C= (p.Ser275=) c.660C= (p.Ser220=) c.909C= (p.Ser303=) c.723C= (p.Ser241=) n.840C= | |
| 13 | g.113118429C>G | CA388785797 | F7 | c.756C>G (p.Ser252Arg) c.822C>G (p.Ser274Arg) c.570C>G (p.Ser190Arg) n.843C>G c.615C>G (p.Ser205Arg) c.864C>G (p.Ser288Arg) c.678C>G (p.Ser226Arg) c.516C>G (p.Ser172Arg) c.825C>G (p.Ser275Arg) c.660C>G (p.Ser220Arg) c.909C>G (p.Ser303Arg) c.723C>G (p.Ser241Arg) n.840C>G | |
| 13 | g.113118429C>T | CA7060131 | F7 | c.756C>T (p.Ser252=) c.822C>T (p.Ser274=) c.570C>T (p.Ser190=) n.843C>T c.615C>T (p.Ser205=) c.864C>T (p.Ser288=) c.678C>T (p.Ser226=) c.516C>T (p.Ser172=) c.825C>T (p.Ser275=) c.660C>T (p.Ser220=) c.909C>T (p.Ser303=) c.723C>T (p.Ser241=) n.840C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113118430G>A | CA388785798 | F7 | c.757G>A (p.Glu253Lys) c.823G>A (p.Glu275Lys) c.571G>A (p.Glu191Lys) n.844G>A c.616G>A (p.Glu206Lys) c.865G>A (p.Glu289Lys) c.679G>A (p.Glu227Lys) c.517G>A (p.Glu173Lys) c.826G>A (p.Glu276Lys) c.661G>A (p.Glu221Lys) c.910G>A (p.Glu304Lys) c.724G>A (p.Glu242Lys) n.841G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113118430G>C | CA388785799 | F7 | c.757G>C (p.Glu253Gln) c.823G>C (p.Glu275Gln) c.571G>C (p.Glu191Gln) n.844G>C c.616G>C (p.Glu206Gln) c.865G>C (p.Glu289Gln) c.679G>C (p.Glu227Gln) c.517G>C (p.Glu173Gln) c.826G>C (p.Glu276Gln) c.661G>C (p.Glu221Gln) c.910G>C (p.Glu304Gln) c.724G>C (p.Glu242Gln) n.841G>C | |
| 13 | g.113118430G= | CA2120141691 | F7 | c.757G= (p.Glu253=) c.823G= (p.Glu275=) c.571G= (p.Glu191=) n.844G= c.616G= (p.Glu206=) c.865G= (p.Glu289=) c.679G= (p.Glu227=) c.517G= (p.Glu173=) c.826G= (p.Glu276=) c.661G= (p.Glu221=) c.910G= (p.Glu304=) c.724G= (p.Glu242=) n.841G= | |
| 13 | g.113118430G>T | CA388785800 | F7 | c.757G>T (p.Glu253Ter) c.823G>T (p.Glu275Ter) c.571G>T (p.Glu191Ter) n.844G>T c.616G>T (p.Glu206Ter) c.865G>T (p.Glu289Ter) c.679G>T (p.Glu227Ter) c.517G>T (p.Glu173Ter) c.826G>T (p.Glu276Ter) c.661G>T (p.Glu221Ter) c.910G>T (p.Glu304Ter) c.724G>T (p.Glu242Ter) n.841G>T | gnomAD v4 |
| 13 | g.113118431A>C | CA388785801 | F7 | c.758A>C (p.Glu253Ala) c.824A>C (p.Glu275Ala) c.572A>C (p.Glu191Ala) n.845A>C c.617A>C (p.Glu206Ala) c.866A>C (p.Glu289Ala) c.680A>C (p.Glu227Ala) c.518A>C (p.Glu173Ala) c.827A>C (p.Glu276Ala) c.662A>C (p.Glu221Ala) c.911A>C (p.Glu304Ala) c.725A>C (p.Glu242Ala) n.842A>C | |
| 13 | g.113118431A>G | CA388785802 | F7 | c.758A>G (p.Glu253Gly) c.824A>G (p.Glu275Gly) c.572A>G (p.Glu191Gly) n.845A>G c.617A>G (p.Glu206Gly) c.866A>G (p.Glu289Gly) c.680A>G (p.Glu227Gly) c.518A>G (p.Glu173Gly) c.827A>G (p.Glu276Gly) c.662A>G (p.Glu221Gly) c.911A>G (p.Glu304Gly) c.725A>G (p.Glu242Gly) n.842A>G | |
| 13 | g.113118431A>T | CA388785803 | F7 | c.758A>T (p.Glu253Val) c.824A>T (p.Glu275Val) c.572A>T (p.Glu191Val) n.845A>T c.617A>T (p.Glu206Val) c.866A>T (p.Glu289Val) c.680A>T (p.Glu227Val) c.518A>T (p.Glu173Val) c.827A>T (p.Glu276Val) c.662A>T (p.Glu221Val) c.911A>T (p.Glu304Val) c.725A>T (p.Glu242Val) n.842A>T | |
| 13 | g.113118432G>A | CA7060132 | F7 | c.759G>A (p.Glu253=) c.825G>A (p.Glu275=) c.573G>A (p.Glu191=) n.846G>A c.618G>A (p.Glu206=) c.867G>A (p.Glu289=) c.681G>A (p.Glu227=) c.519G>A (p.Glu173=) c.828G>A (p.Glu276=) c.663G>A (p.Glu221=) c.912G>A (p.Glu304=) c.726G>A (p.Glu242=) n.843G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.113118432G>C | CA388785804 | F7 | c.759G>C (p.Glu253Asp) c.825G>C (p.Glu275Asp) c.573G>C (p.Glu191Asp) n.846G>C c.618G>C (p.Glu206Asp) c.867G>C (p.Glu289Asp) c.681G>C (p.Glu227Asp) c.519G>C (p.Glu173Asp) c.828G>C (p.Glu276Asp) c.663G>C (p.Glu221Asp) c.912G>C (p.Glu304Asp) c.726G>C (p.Glu242Asp) n.843G>C | |
| 13 | g.113118432G= | CA2120141697 | F7 | c.759G= (p.Glu253=) c.825G= (p.Glu275=) c.573G= (p.Glu191=) n.846G= c.618G= (p.Glu206=) c.867G= (p.Glu289=) c.681G= (p.Glu227=) c.519G= (p.Glu173=) c.828G= (p.Glu276=) c.663G= (p.Glu221=) c.912G= (p.Glu304=) c.726G= (p.Glu242=) n.843G= | |
| 13 | g.113118432G>T | CA388785805 | F7 | c.759G>T (p.Glu253Asp) c.825G>T (p.Glu275Asp) c.573G>T (p.Glu191Asp) n.846G>T c.618G>T (p.Glu206Asp) c.867G>T (p.Glu289Asp) c.681G>T (p.Glu227Asp) c.519G>T (p.Glu173Asp) c.828G>T (p.Glu276Asp) c.663G>T (p.Glu221Asp) c.912G>T (p.Glu304Asp) c.726G>T (p.Glu242Asp) n.843G>T | gnomAD v4 |
| 13 | g.113118433C>A | CA388785807 | F7 | c.760C>A (p.His254Asn) c.826C>A (p.His276Asn) c.574C>A (p.His192Asn) n.847C>A c.619C>A (p.His207Asn) c.868C>A (p.His290Asn) c.682C>A (p.His228Asn) c.520C>A (p.His174Asn) c.829C>A (p.His277Asn) c.664C>A (p.His222Asn) c.913C>A (p.His305Asn) c.727C>A (p.His243Asn) n.844C>A | |
| 13 | g.113118433C= | CA2120141704 | F7 | c.760C= (p.His254=) c.826C= (p.His276=) c.574C= (p.His192=) n.847C= c.619C= (p.His207=) c.868C= (p.His290=) c.682C= (p.His228=) c.520C= (p.His174=) c.829C= (p.His277=) c.664C= (p.His222=) c.913C= (p.His305=) c.727C= (p.His243=) n.844C= | |
| 13 | g.113118433C>G | CA388785806 | F7 | c.760C>G (p.His254Asp) c.826C>G (p.His276Asp) c.574C>G (p.His192Asp) n.847C>G c.619C>G (p.His207Asp) c.868C>G (p.His290Asp) c.682C>G (p.His228Asp) c.520C>G (p.His174Asp) c.829C>G (p.His277Asp) c.664C>G (p.His222Asp) c.913C>G (p.His305Asp) c.727C>G (p.His243Asp) n.844C>G | |
| 13 | g.113118433C>T | CA256461440 | F7 | c.760C>T (p.His254Tyr) c.826C>T (p.His276Tyr) c.574C>T (p.His192Tyr) n.847C>T c.619C>T (p.His207Tyr) c.868C>T (p.His290Tyr) c.682C>T (p.His228Tyr) c.520C>T (p.His174Tyr) c.829C>T (p.His277Tyr) c.664C>T (p.His222Tyr) c.913C>T (p.His305Tyr) c.727C>T (p.His243Tyr) n.844C>T | dbSNP gnomAD v4 |
| 13 | g.113118434A>C | CA388785808 | F7 | c.761A>C (p.His254Pro) c.827A>C (p.His276Pro) c.575A>C (p.His192Pro) n.848A>C c.620A>C (p.His207Pro) c.869A>C (p.His290Pro) c.683A>C (p.His228Pro) c.521A>C (p.His174Pro) c.830A>C (p.His277Pro) c.665A>C (p.His222Pro) c.914A>C (p.His305Pro) c.728A>C (p.His243Pro) n.845A>C | |
| 13 | g.113118434A>G | CA388785809 | F7 | c.761A>G (p.His254Arg) c.827A>G (p.His276Arg) c.575A>G (p.His192Arg) n.848A>G c.620A>G (p.His207Arg) c.869A>G (p.His290Arg) c.683A>G (p.His228Arg) c.521A>G (p.His174Arg) c.830A>G (p.His277Arg) c.665A>G (p.His222Arg) c.914A>G (p.His305Arg) c.728A>G (p.His243Arg) n.845A>G | |
| 13 | g.113118434A>T | CA388785810 | F7 | c.761A>T (p.His254Leu) c.827A>T (p.His276Leu) c.575A>T (p.His192Leu) n.848A>T c.620A>T (p.His207Leu) c.869A>T (p.His290Leu) c.683A>T (p.His228Leu) c.521A>T (p.His174Leu) c.830A>T (p.His277Leu) c.665A>T (p.His222Leu) c.914A>T (p.His305Leu) c.728A>T (p.His243Leu) n.845A>T | |
| 13 | g.113118435C>A | CA388785811 | F7 | c.762C>A (p.His254Gln) c.828C>A (p.His276Gln) c.576C>A (p.His192Gln) n.849C>A c.621C>A (p.His207Gln) c.870C>A (p.His290Gln) c.684C>A (p.His228Gln) c.522C>A (p.His174Gln) c.831C>A (p.His277Gln) c.666C>A (p.His222Gln) c.915C>A (p.His305Gln) c.729C>A (p.His243Gln) n.846C>A | |
| 13 | g.113118435C= | CA2120141711 | F7 | c.762C= (p.His254=) c.828C= (p.His276=) c.576C= (p.His192=) n.849C= c.621C= (p.His207=) c.870C= (p.His290=) c.684C= (p.His228=) c.522C= (p.His174=) c.831C= (p.His277=) c.666C= (p.His222=) c.915C= (p.His305=) c.729C= (p.His243=) n.846C= | |
| 13 | g.113118435C>G | CA388785812 | F7 | c.762C>G (p.His254Gln) c.828C>G (p.His276Gln) c.576C>G (p.His192Gln) n.849C>G c.621C>G (p.His207Gln) c.870C>G (p.His290Gln) c.684C>G (p.His228Gln) c.522C>G (p.His174Gln) c.831C>G (p.His277Gln) c.666C>G (p.His222Gln) c.915C>G (p.His305Gln) c.729C>G (p.His243Gln) n.846C>G | |
| 13 | g.113118435C>T | CA7060133 | F7 | c.762C>T (p.His254=) c.828C>T (p.His276=) c.576C>T (p.His192=) n.849C>T c.621C>T (p.His207=) c.870C>T (p.His290=) c.684C>T (p.His228=) c.522C>T (p.His174=) c.831C>T (p.His277=) c.666C>T (p.His222=) c.915C>T (p.His305=) c.729C>T (p.His243=) n.846C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113118436G>A | CA7060134 | F7 | c.763G>A (p.Asp255Asn) c.829G>A (p.Asp277Asn) c.577G>A (p.Asp193Asn) n.850G>A c.622G>A (p.Asp208Asn) c.871G>A (p.Asp291Asn) c.685G>A (p.Asp229Asn) c.523G>A (p.Asp175Asn) c.832G>A (p.Asp278Asn) c.667G>A (p.Asp223Asn) c.916G>A (p.Asp306Asn) c.730G>A (p.Asp244Asn) n.847G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 13 | g.113118436G>C | CA7060135 | F7 | c.763G>C (p.Asp255His) c.829G>C (p.Asp277His) c.577G>C (p.Asp193His) n.850G>C c.622G>C (p.Asp208His) c.871G>C (p.Asp291His) c.685G>C (p.Asp229His) c.523G>C (p.Asp175His) c.832G>C (p.Asp278His) c.667G>C (p.Asp223His) c.916G>C (p.Asp306His) c.730G>C (p.Asp244His) n.847G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |