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.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.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 |
| 13 | g.113118436G= | CA2120141714 | F7 | c.763G= (p.Asp255=) c.829G= (p.Asp277=) c.577G= (p.Asp193=) n.850G= c.622G= (p.Asp208=) c.871G= (p.Asp291=) c.685G= (p.Asp229=) c.523G= (p.Asp175=) c.832G= (p.Asp278=) c.667G= (p.Asp223=) c.916G= (p.Asp306=) c.730G= (p.Asp244=) n.847G= | |
| 13 | g.113118436G>T | CA388785813 | F7 | c.763G>T (p.Asp255Tyr) c.829G>T (p.Asp277Tyr) c.577G>T (p.Asp193Tyr) n.850G>T c.622G>T (p.Asp208Tyr) c.871G>T (p.Asp291Tyr) c.685G>T (p.Asp229Tyr) c.523G>T (p.Asp175Tyr) c.832G>T (p.Asp278Tyr) c.667G>T (p.Asp223Tyr) c.916G>T (p.Asp306Tyr) c.730G>T (p.Asp244Tyr) n.847G>T | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113118437A= | CA2120141722 | F7 | c.764A= (p.Asp255=) c.830A= (p.Asp277=) c.578A= (p.Asp193=) n.851A= c.623A= (p.Asp208=) c.872A= (p.Asp291=) c.686A= (p.Asp229=) c.524A= (p.Asp175=) c.833A= (p.Asp278=) c.668A= (p.Asp223=) c.917A= (p.Asp306=) c.731A= (p.Asp244=) n.848A= | |
| 13 | g.113118437A>C | CA388785814 | F7 | c.764A>C (p.Asp255Ala) c.830A>C (p.Asp277Ala) c.578A>C (p.Asp193Ala) n.851A>C c.623A>C (p.Asp208Ala) c.872A>C (p.Asp291Ala) c.686A>C (p.Asp229Ala) c.524A>C (p.Asp175Ala) c.833A>C (p.Asp278Ala) c.668A>C (p.Asp223Ala) c.917A>C (p.Asp306Ala) c.731A>C (p.Asp244Ala) n.848A>C | |
| 13 | g.113118437A>G | CA7060136 | F7 | c.764A>G (p.Asp255Gly) c.830A>G (p.Asp277Gly) c.578A>G (p.Asp193Gly) n.851A>G c.623A>G (p.Asp208Gly) c.872A>G (p.Asp291Gly) c.686A>G (p.Asp229Gly) c.524A>G (p.Asp175Gly) c.833A>G (p.Asp278Gly) c.668A>G (p.Asp223Gly) c.917A>G (p.Asp306Gly) c.731A>G (p.Asp244Gly) n.848A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113118437A>T | CA388785815 | F7 | c.764A>T (p.Asp255Val) c.830A>T (p.Asp277Val) c.578A>T (p.Asp193Val) n.851A>T c.623A>T (p.Asp208Val) c.872A>T (p.Asp291Val) c.686A>T (p.Asp229Val) c.524A>T (p.Asp175Val) c.833A>T (p.Asp278Val) c.668A>T (p.Asp223Val) c.917A>T (p.Asp306Val) c.731A>T (p.Asp244Val) n.848A>T | |
| 13 | g.113118438C>A | CA388785816 | F7 | c.765C>A (p.Asp255Glu) c.831C>A (p.Asp277Glu) c.579C>A (p.Asp193Glu) n.852C>A c.624C>A (p.Asp208Glu) c.873C>A (p.Asp291Glu) c.687C>A (p.Asp229Glu) c.525C>A (p.Asp175Glu) c.834C>A (p.Asp278Glu) c.669C>A (p.Asp223Glu) c.918C>A (p.Asp306Glu) c.732C>A (p.Asp244Glu) n.849C>A | gnomAD v4 |
| 13 | g.113118438C= | CA2120141725 | F7 | c.765C= (p.Asp255=) c.831C= (p.Asp277=) c.579C= (p.Asp193=) n.852C= c.624C= (p.Asp208=) c.873C= (p.Asp291=) c.687C= (p.Asp229=) c.525C= (p.Asp175=) c.834C= (p.Asp278=) c.669C= (p.Asp223=) c.918C= (p.Asp306=) c.732C= (p.Asp244=) n.849C= | |
| 13 | g.113118438C>G | CA388785817 | F7 | c.765C>G (p.Asp255Glu) c.831C>G (p.Asp277Glu) c.579C>G (p.Asp193Glu) n.852C>G c.624C>G (p.Asp208Glu) c.873C>G (p.Asp291Glu) c.687C>G (p.Asp229Glu) c.525C>G (p.Asp175Glu) c.834C>G (p.Asp278Glu) c.669C>G (p.Asp223Glu) c.918C>G (p.Asp306Glu) c.732C>G (p.Asp244Glu) n.849C>G | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113118438C>T | CA7060137 | F7 | c.765C>T (p.Asp255=) c.831C>T (p.Asp277=) c.579C>T (p.Asp193=) n.852C>T c.624C>T (p.Asp208=) c.873C>T (p.Asp291=) c.687C>T (p.Asp229=) c.525C>T (p.Asp175=) c.834C>T (p.Asp278=) c.669C>T (p.Asp223=) c.918C>T (p.Asp306=) c.732C>T (p.Asp244=) n.849C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113118439G>A | CA7060138 | F7 | c.766G>A (p.Gly256Arg) c.832G>A (p.Gly278Arg) c.580G>A (p.Gly194Arg) n.853G>A c.625G>A (p.Gly209Arg) c.874G>A (p.Gly292Arg) c.688G>A (p.Gly230Arg) c.526G>A (p.Gly176Arg) c.835G>A (p.Gly279Arg) c.670G>A (p.Gly224Arg) c.919G>A (p.Gly307Arg) c.733G>A (p.Gly245Arg) n.850G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.113118439G>C | CA388785819 | F7 | c.766G>C (p.Gly256Arg) c.832G>C (p.Gly278Arg) c.580G>C (p.Gly194Arg) n.853G>C c.625G>C (p.Gly209Arg) c.874G>C (p.Gly292Arg) c.688G>C (p.Gly230Arg) c.526G>C (p.Gly176Arg) c.835G>C (p.Gly279Arg) c.670G>C (p.Gly224Arg) c.919G>C (p.Gly307Arg) c.733G>C (p.Gly245Arg) n.850G>C | dbSNP |
| 13 | g.113118439G= | CA2120141732 | F7 | c.766G= (p.Gly256=) c.832G= (p.Gly278=) c.580G= (p.Gly194=) n.853G= c.625G= (p.Gly209=) c.874G= (p.Gly292=) c.688G= (p.Gly230=) c.526G= (p.Gly176=) c.835G= (p.Gly279=) c.670G= (p.Gly224=) c.919G= (p.Gly307=) c.733G= (p.Gly245=) n.850G= | |
| 13 | g.113118439G>T | CA388785818 | F7 | c.766G>T (p.Gly256Trp) c.832G>T (p.Gly278Trp) c.580G>T (p.Gly194Trp) n.853G>T c.625G>T (p.Gly209Trp) c.874G>T (p.Gly292Trp) c.688G>T (p.Gly230Trp) c.526G>T (p.Gly176Trp) c.835G>T (p.Gly279Trp) c.670G>T (p.Gly224Trp) c.919G>T (p.Gly307Trp) c.733G>T (p.Gly245Trp) n.850G>T | gnomAD v4 |
| 13 | g.113118440G>A | CA388785820 | F7 | c.767G>A (p.Gly256Glu) c.833G>A (p.Gly278Glu) c.581G>A (p.Gly194Glu) n.854G>A c.626G>A (p.Gly209Glu) c.875G>A (p.Gly292Glu) c.689G>A (p.Gly230Glu) c.527G>A (p.Gly176Glu) c.836G>A (p.Gly279Glu) c.671G>A (p.Gly224Glu) c.920G>A (p.Gly307Glu) c.734G>A (p.Gly245Glu) n.851G>A | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113118440G>C | CA388785821 | F7 | c.767G>C (p.Gly256Ala) c.833G>C (p.Gly278Ala) c.581G>C (p.Gly194Ala) n.854G>C c.626G>C (p.Gly209Ala) c.875G>C (p.Gly292Ala) c.689G>C (p.Gly230Ala) c.527G>C (p.Gly176Ala) c.836G>C (p.Gly279Ala) c.671G>C (p.Gly224Ala) c.920G>C (p.Gly307Ala) c.734G>C (p.Gly245Ala) n.851G>C | |
| 13 | g.113118440G= | CA2120141740 | F7 | c.767G= (p.Gly256=) c.833G= (p.Gly278=) c.581G= (p.Gly194=) n.854G= c.626G= (p.Gly209=) c.875G= (p.Gly292=) c.689G= (p.Gly230=) c.527G= (p.Gly176=) c.836G= (p.Gly279=) c.671G= (p.Gly224=) c.920G= (p.Gly307=) c.734G= (p.Gly245=) n.851G= | |
| 13 | g.113118440G>T | CA388785822 | F7 | c.767G>T (p.Gly256Val) c.833G>T (p.Gly278Val) c.581G>T (p.Gly194Val) n.854G>T c.626G>T (p.Gly209Val) c.875G>T (p.Gly292Val) c.689G>T (p.Gly230Val) c.527G>T (p.Gly176Val) c.836G>T (p.Gly279Val) c.671G>T (p.Gly224Val) c.920G>T (p.Gly307Val) c.734G>T (p.Gly245Val) n.851G>T | gnomAD v4 |
| 13 | g.113118441G>A | CA485423823 | F7 | c.768G>A (p.Gly256=) c.834G>A (p.Gly278=) c.582G>A (p.Gly194=) n.855G>A c.627G>A (p.Gly209=) c.876G>A (p.Gly292=) c.690G>A (p.Gly230=) c.528G>A (p.Gly176=) c.837G>A (p.Gly279=) c.672G>A (p.Gly224=) c.921G>A (p.Gly307=) c.735G>A (p.Gly245=) n.852G>A | |
| 13 | g.113118441G>C | CA485423824 | F7 | c.768G>C (p.Gly256=) c.834G>C (p.Gly278=) c.582G>C (p.Gly194=) n.855G>C c.627G>C (p.Gly209=) c.876G>C (p.Gly292=) c.690G>C (p.Gly230=) c.528G>C (p.Gly176=) c.837G>C (p.Gly279=) c.672G>C (p.Gly224=) c.921G>C (p.Gly307=) c.735G>C (p.Gly245=) n.852G>C |