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 |
|---|---|---|---|---|---|
| 19 | g.7184381C>A | CA9135986 | INSR | c.909G>T (p.Gln303His) n.884G>T c.987G>T (p.Gln329His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184381C= | CA2320796136 | INSR | c.909G= (p.Gln303=) n.884G= c.987G= (p.Gln329=) | |
| 19 | g.7184381C>G | CA403669769 | INSR | c.909G>C (p.Gln303His) n.884G>C c.987G>C (p.Gln329His) | |
| 19 | g.7184381C>T | CA9135985 | INSR | c.909G>A (p.Gln303=) n.884G>A c.987G>A (p.Gln329=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184382T>A | CA403669770 | INSR | c.908A>T (p.Gln303Leu) n.883A>T c.986A>T (p.Gln329Leu) | |
| 19 | g.7184382T>C | CA403669771 | INSR | c.908A>G (p.Gln303Arg) n.883A>G c.986A>G (p.Gln329Arg) | |
| 19 | g.7184382T>G | CA403669772 | INSR | c.908A>C (p.Gln303Pro) n.883A>C c.986A>C (p.Gln329Pro) | |
| 19 | g.7184383G>A | CA403669773 | INSR | c.907C>T (p.Gln303Ter) n.882C>T c.985C>T (p.Gln329Ter) | |
| 19 | g.7184383G>C | CA403669774 | INSR | c.907C>G (p.Gln303Glu) n.882C>G c.985C>G (p.Gln329Glu) | |
| 19 | g.7184383G= | CA2320796137 | INSR | c.907C= (p.Gln303=) n.882C= c.985C= (p.Gln329=) | |
| 19 | g.7184383G>T | CA403669775 | INSR | c.907C>A (p.Gln303Lys) n.882C>A c.985C>A (p.Gln329Lys) | dbSNP gnomAD v4 |
| 19 | g.7184384G>A | CA505400336 | INSR | c.906C>T (p.His302=) n.881C>T c.984C>T (p.His328=) | |
| 19 | g.7184384G>C | CA403669776 | INSR | c.906C>G (p.His302Gln) n.881C>G c.984C>G (p.His328Gln) | |
| 19 | g.7184384G>T | CA403669777 | INSR | c.906C>A (p.His302Gln) n.881C>A c.984C>A (p.His328Gln) | |
| 19 | g.7184385T>A | CA403669778 | INSR | c.905A>T (p.His302Leu) n.880A>T c.983A>T (p.His328Leu) | |
| 19 | g.7184385T>C | CA403669779 | INSR | c.905A>G (p.His302Arg) n.880A>G c.983A>G (p.His328Arg) | |
| 19 | g.7184385T>G | CA403669780 | INSR | c.905A>C (p.His302Pro) n.880A>C c.983A>C (p.His328Pro) | |
| 19 | g.7184386G>A | CA403669781 | INSR | c.904C>T (p.His302Tyr) n.879C>T c.982C>T (p.His328Tyr) | |
| 19 | g.7184386G>C | CA403669782 | INSR | c.904C>G (p.His302Asp) n.879C>G c.982C>G (p.His328Asp) | |
| 19 | g.7184386G>T | CA403669783 | INSR | c.904C>A (p.His302Asn) n.879C>A c.982C>A (p.His328Asn) | |
| 19 | g.7184387G>A | CA505400337 | INSR | c.903C>T (p.Cys301=) n.878C>T c.981C>T (p.Cys327=) | gnomAD v4 |
| 19 | g.7184387G>C | CA403669784 | INSR | c.903C>G (p.Cys301Trp) n.878C>G c.981C>G (p.Cys327Trp) | |
| 19 | g.7184387G>T | CA403669785 | INSR | c.903C>A (p.Cys301Ter) n.878C>A c.981C>A (p.Cys327Ter) | |
| 19 | g.7184388C>A | CA403669786 | INSR | c.902G>T (p.Cys301Phe) n.877G>T c.980G>T (p.Cys327Phe) | |
| 19 | g.7184388C>G | CA403669787 | INSR | c.902G>C (p.Cys301Ser) n.877G>C c.980G>C (p.Cys327Ser) | |
| 19 | g.7184388C>T | CA403669788 | INSR | c.902G>A (p.Cys301Tyr) n.877G>A c.980G>A (p.Cys327Tyr) | gnomAD v4 |
| 19 | g.7184389del | CA2587926206 | INSR | c.901del (p.Cys301AlafsTer21) n.876del c.979del (p.Cys327AlafsTer21) | gnomAD v4 |
| 19 | g.7184389A>C | CA403669789 | INSR | c.901T>G (p.Cys301Gly) n.876T>G c.979T>G (p.Cys327Gly) | |
| 19 | g.7184389A>G | CA403669790 | INSR | c.901T>C (p.Cys301Arg) n.876T>C c.979T>C (p.Cys327Arg) | |
| 19 | g.7184389A>T | CA403669791 | INSR | c.901T>A (p.Cys301Ser) n.876T>A c.979T>A (p.Cys327Ser) | |
| 19 | g.7184390G>A | CA505400340 | INSR | c.900C>T (p.Gly300=) n.875C>T c.978C>T (p.Gly326=) | gnomAD v4 |
| 19 | g.7184390G>C | CA505400339 | INSR | c.900C>G (p.Gly300=) n.875C>G c.978C>G (p.Gly326=) | |
| 19 | g.7184390G>T | CA505400338 | INSR | c.900C>A (p.Gly300=) n.875C>A c.978C>A (p.Gly326=) | |
| 19 | g.7184391C>A | CA403669792 | INSR | c.899G>T (p.Gly300Val) n.874G>T c.977G>T (p.Gly326Val) | |
| 19 | g.7184391C= | CA2320796139 | INSR | c.899G= (p.Gly300=) n.874G= c.977G= (p.Gly326=) | |
| 19 | g.7184391C>G | CA403669793 | INSR | c.899G>C (p.Gly300Ala) n.874G>C c.977G>C (p.Gly326Ala) | |
| 19 | g.7184391C>T | CA403669794 | INSR | c.899G>A (p.Gly300Asp) n.874G>A c.977G>A (p.Gly326Asp) | dbSNP |
| 19 | g.7184392C>A | CA403669795 | INSR | c.898G>T (p.Gly300Cys) n.873G>T c.976G>T (p.Gly326Cys) | |
| 19 | g.7184392C>G | CA403669796 | INSR | c.898G>C (p.Gly300Arg) n.873G>C c.976G>C (p.Gly326Arg) | |
| 19 | g.7184392C>T | CA403669797 | INSR | c.898G>A (p.Gly300Ser) n.873G>A c.976G>A (p.Gly326Ser) | gnomAD v4 |
| 19 | g.7184393C>A | CA403669798 | INSR | c.897G>T (p.Gln299His) n.872G>T c.975G>T (p.Gln325His) | |
| 19 | g.7184393C>G | CA403669799 | INSR | c.897G>C (p.Gln299His) n.872G>C c.975G>C (p.Gln325His) | gnomAD v4 |
| 19 | g.7184393C>T | CA505400341 | INSR | c.897G>A (p.Gln299=) n.872G>A c.975G>A (p.Gln325=) | |
| 19 | g.7184394T>A | CA403669800 | INSR | c.896A>T (p.Gln299Leu) n.871A>T c.974A>T (p.Gln325Leu) | |
| 19 | g.7184394T>C | CA403669801 | INSR | c.896A>G (p.Gln299Arg) n.871A>G c.974A>G (p.Gln325Arg) | |
| 19 | g.7184394T>G | CA403669802 | INSR | c.896A>C (p.Gln299Pro) n.871A>C c.974A>C (p.Gln325Pro) | |
| 19 | g.7184395G>A | CA403669803 | INSR | c.895C>T (p.Gln299Ter) n.870C>T c.973C>T (p.Gln325Ter) | gnomAD v4 |
| 19 | g.7184395G>C | CA403669804 | INSR | c.895C>G (p.Gln299Glu) n.870C>G c.973C>G (p.Gln325Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7184395G= | CA2320796141 | INSR | c.895C= (p.Gln299=) n.870C= c.973C= (p.Gln325=) | |
| 19 | g.7184395G>T | CA403669805 | INSR | c.895C>A (p.Gln299Lys) n.870C>A c.973C>A (p.Gln325Lys) | |
| 19 | g.7184396C>A | CA403669807 | INSR | c.894G>T (p.Arg298Ser) n.869G>T c.972G>T (p.Arg324Ser) | |
| 19 | g.7184396C= | CA2320796142 | INSR | c.894G= (p.Arg298=) n.869G= c.972G= (p.Arg324=) | |
| 19 | g.7184396C>G | CA403669806 | INSR | c.894G>C (p.Arg298Ser) n.869G>C c.972G>C (p.Arg324Ser) | |
| 19 | g.7184396C>T | CA9135987 | INSR | c.894G>A (p.Arg298=) n.869G>A c.972G>A (p.Arg324=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184397C>A | CA403669808 | INSR | c.893G>T (p.Arg298Met) n.868G>T c.971G>T (p.Arg324Met) | |
| 19 | g.7184397C= | CA2320796143 | INSR | c.893G= (p.Arg298=) n.868G= c.971G= (p.Arg324=) | |
| 19 | g.7184397C>G | CA403669809 | INSR | c.893G>C (p.Arg298Thr) n.868G>C c.971G>C (p.Arg324Thr) | |
| 19 | g.7184397C>T | CA403669810 | INSR | c.893G>A (p.Arg298Lys) n.868G>A c.971G>A (p.Arg324Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184398T>A | CA403669811 | INSR | c.892A>T (p.Arg298Trp) n.867A>T c.970A>T (p.Arg324Trp) | |
| 19 | g.7184398T>C | CA403669812 | INSR | c.892A>G (p.Arg298Gly) n.867A>G c.970A>G (p.Arg324Gly) | gnomAD v4 |
| 19 | g.7184398T>G | CA505400342 | INSR | c.892A>C (p.Arg298=) n.867A>C c.970A>C (p.Arg324=) | |
| 19 | g.7184399C>A | CA505400344 | INSR | c.891G>T (p.Arg297=) n.866G>T c.969G>T (p.Arg323=) | |
| 19 | g.7184399C= | CA2320796145 | INSR | c.891G= (p.Arg297=) n.866G= c.969G= (p.Arg323=) | |
| 19 | g.7184399C>G | CA505400343 | INSR | c.891G>C (p.Arg297=) n.866G>C c.969G>C (p.Arg323=) | |
| 19 | g.7184399C>T | CA304866473 | INSR | c.891G>A (p.Arg297=) n.866G>A c.969G>A (p.Arg323=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184400C>A | CA403669813 | INSR | c.890G>T (p.Arg297Leu) n.865G>T c.968G>T (p.Arg323Leu) | COSMIC COSMIC |
| 19 | g.7184400C= | CA2320796148 | INSR | c.890G= (p.Arg297=) n.865G= c.968G= (p.Arg323=) | |
| 19 | g.7184400C>G | CA403669814 | INSR | c.890G>C (p.Arg297Pro) n.865G>C c.968G>C (p.Arg323Pro) | gnomAD v4 |
| 19 | g.7184400C>T | CA9135988 | INSR | c.890G>A (p.Arg297Gln) n.865G>A c.968G>A (p.Arg323Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184401G>A | CA9135989 | INSR | c.889C>T (p.Arg297Trp) n.864C>T c.967C>T (p.Arg323Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184401G>C | CA403669815 | INSR | c.889C>G (p.Arg297Gly) n.864C>G c.967C>G (p.Arg323Gly) | |
| 19 | g.7184401G= | CA2320796150 | INSR | c.889C= (p.Arg297=) n.864C= c.967C= (p.Arg323=) | |
| 19 | g.7184401G>T | CA505400345 | INSR | c.889C>A (p.Arg297=) n.864C>A c.967C>A (p.Arg323=) | |
| 19 | g.7184402C>A | CA505400347 | INSR | c.888G>T (p.Ser296=) n.863G>T c.966G>T (p.Ser322=) | |
| 19 | g.7184402C= | CA2320796153 | INSR | c.888G= (p.Ser296=) n.863G= c.966G= (p.Ser322=) | |
| 19 | g.7184402C>G | CA505400346 | INSR | c.888G>C (p.Ser296=) n.863G>C c.966G>C (p.Ser322=) | |
| 19 | g.7184402C>T | CA9135990 | INSR | c.888G>A (p.Ser296=) n.863G>A c.966G>A (p.Ser322=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184403G>A | CA304866494 | INSR | c.887C>T (p.Ser296Leu) n.862C>T c.965C>T (p.Ser322Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184403G>C | CA403669816 | INSR | c.887C>G (p.Ser296Trp) n.862C>G c.965C>G (p.Ser322Trp) | |
| 19 | g.7184403G= | CA2320796157 | INSR | c.887C= (p.Ser296=) n.862C= c.965C= (p.Ser322=) | |
| 19 | g.7184403G>T | CA403669817 | INSR | c.887C>A (p.Ser296Ter) n.862C>A c.965C>A (p.Ser322Ter) | gnomAD v4 |
| 19 | g.7184404A>C | CA403669818 | INSR | c.886T>G (p.Ser296Ala) n.861T>G c.964T>G (p.Ser322Ala) | |
| 19 | g.7184404A>G | CA403669819 | INSR | c.886T>C (p.Ser296Pro) n.861T>C c.964T>C (p.Ser322Pro) | |
| 19 | g.7184404A>T | CA403669820 | INSR | c.886T>A (p.Ser296Thr) n.861T>A c.964T>A (p.Ser322Thr) | |
| 19 | g.7184405G>A | CA505400348 | INSR | c.885C>T (p.Asn295=) n.860C>T c.963C>T (p.Asn321=) | gnomAD v4 |
| 19 | g.7184405G>C | CA403669821 | INSR | c.885C>G (p.Asn295Lys) n.860C>G c.963C>G (p.Asn321Lys) | |
| 19 | g.7184405G>T | CA403669822 | INSR | c.885C>A (p.Asn295Lys) n.860C>A c.963C>A (p.Asn321Lys) | |
| 19 | g.7184406T>A | CA403669823 | INSR | c.884A>T (p.Asn295Ile) n.859A>T c.962A>T (p.Asn321Ile) | dbSNP |
| 19 | g.7184406T>C | CA403669825 | INSR | c.884A>G (p.Asn295Ser) n.859A>G c.962A>G (p.Asn321Ser) | |
| 19 | g.7184406T>G | CA403669824 | INSR | c.884A>C (p.Asn295Thr) n.859A>C c.962A>C (p.Asn321Thr) | |
| 19 | g.7184406T= | CA2320796159 | INSR | c.884A= (p.Asn295=) n.859A= c.962A= (p.Asn321=) | |
| 19 | g.7184407T>A | CA403669826 | INSR | c.883A>T (p.Asn295Tyr) n.858A>T c.961A>T (p.Asn321Tyr) | |
| 19 | g.7184407T>C | CA403669828 | INSR | c.883A>G (p.Asn295Asp) n.858A>G c.961A>G (p.Asn321Asp) | |
| 19 | g.7184407T>G | CA403669827 | INSR | c.883A>C (p.Asn295His) n.858A>C c.961A>C (p.Asn321His) | |
| 19 | g.7184408C>A | CA403669829 | INSR | c.882G>T (p.Lys294Asn) n.857G>T c.960G>T (p.Lys320Asn) | |
| 19 | g.7184408C= | CA2320796161 | INSR | c.882G= (p.Lys294=) n.857G= c.960G= (p.Lys320=) | |
| 19 | g.7184408C>G | CA403669830 | INSR | c.882G>C (p.Lys294Asn) n.857G>C c.960G>C (p.Lys320Asn) | |
| 19 | g.7184408C>T | CA9135991 | INSR | c.882G>A (p.Lys294=) n.857G>A c.960G>A (p.Lys320=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 19 | g.7184409T>A | CA403669831 | INSR | c.881A>T (p.Lys294Met) n.856A>T c.959A>T (p.Lys320Met) | |
| 19 | g.7184409T>C | CA9135992 | INSR | c.881A>G (p.Lys294Arg) n.856A>G c.959A>G (p.Lys320Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184409T>G | CA403669832 | INSR | c.881A>C (p.Lys294Thr) n.856A>C c.959A>C (p.Lys320Thr) | |
| 19 | g.7184409T= | CA2320796162 | INSR | c.881A= (p.Lys294=) n.856A= c.959A= (p.Lys320=) | |
| 19 | g.7184410T>A | CA403669833 | INSR | c.880A>T (p.Lys294Ter) n.855A>T c.958A>T (p.Lys320Ter) | |
| 19 | g.7184410T>C | CA403669834 | INSR | c.880A>G (p.Lys294Glu) n.855A>G c.958A>G (p.Lys320Glu) | |
| 19 | g.7184410T>G | CA403669835 | INSR | c.880A>C (p.Lys294Gln) n.855A>C c.958A>C (p.Lys320Gln) | |
| 19 | g.7184411G>A | CA505400349 | INSR | c.879C>T (p.Cys293=) n.854C>T c.957C>T (p.Cys319=) | |
| 19 | g.7184411G>C | CA403669836 | INSR | c.879C>G (p.Cys293Trp) n.854C>G c.957C>G (p.Cys319Trp) | |
| 19 | g.7184411G= | CA2320796164 | INSR | c.879C= (p.Cys293=) n.854C= c.957C= (p.Cys319=) | |
| 19 | g.7184411G>T | CA9135993 | INSR | c.879C>A (p.Cys293Ter) n.854C>A c.957C>A (p.Cys319Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184412C>A | CA403669839 | INSR | c.878G>T (p.Cys293Phe) n.853G>T c.956G>T (p.Cys319Phe) | |
| 19 | g.7184412C>G | CA403669837 | INSR | c.878G>C (p.Cys293Ser) n.853G>C c.956G>C (p.Cys319Ser) | |
| 19 | g.7184412C>T | CA403669838 | INSR | c.878G>A (p.Cys293Tyr) n.853G>A c.956G>A (p.Cys319Tyr) | |
| 19 | g.7184413A>C | CA403669840 | INSR | c.877T>G (p.Cys293Gly) n.852T>G c.955T>G (p.Cys319Gly) | |
| 19 | g.7184413A>G | CA403669841 | INSR | c.877T>C (p.Cys293Arg) n.852T>C c.955T>C (p.Cys319Arg) | |
| 19 | g.7184413A>T | CA403669842 | INSR | c.877T>A (p.Cys293Ser) n.852T>A c.955T>A (p.Cys319Ser) | |
| 19 | g.7184414T>A | CA403669843 | INSR | c.876A>T (p.Lys292Asn) n.851A>T c.954A>T (p.Lys318Asn) | |
| 19 | g.7184414T>C | CA505400350 | INSR | c.876A>G (p.Lys292=) n.851A>G c.954A>G (p.Lys318=) | |
| 19 | g.7184414T>G | CA403669844 | INSR | c.876A>C (p.Lys292Asn) n.851A>C c.954A>C (p.Lys318Asn) | |
| 19 | g.7184415T>A | CA403669845 | INSR | c.875A>T (p.Lys292Ile) n.850A>T c.953A>T (p.Lys318Ile) | |
| 19 | g.7184415T>C | CA403669846 | INSR | c.875A>G (p.Lys292Arg) n.850A>G c.953A>G (p.Lys318Arg) | |
| 19 | g.7184415T>G | CA403669847 | INSR | c.875A>C (p.Lys292Thr) n.850A>C c.953A>C (p.Lys318Thr) | gnomAD v4 |
| 19 | g.7184416T>A | CA403669848 | INSR | c.874A>T (p.Lys292Ter) n.849A>T c.952A>T (p.Lys318Ter) | |
| 19 | g.7184416T>C | CA403669849 | INSR | c.874A>G (p.Lys292Glu) n.849A>G c.952A>G (p.Lys318Glu) | |
| 19 | g.7184416T>G | CA9135994 | INSR | c.874A>C (p.Lys292Gln) n.849A>C c.952A>C (p.Lys318Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184416T= | CA2320796166 | INSR | c.874A= (p.Lys292=) n.849A= c.952A= (p.Lys318=) | |
| 19 | g.7184417G>A | CA505400351 | INSR | c.873C>T (p.His291=) n.848C>T c.951C>T (p.His317=) | |
| 19 | g.7184417G>C | CA403669851 | INSR | c.873C>G (p.His291Gln) n.848C>G c.951C>G (p.His317Gln) | |
| 19 | g.7184417G>T | CA403669850 | INSR | c.873C>A (p.His291Gln) n.848C>A c.951C>A (p.His317Gln) | |
| 19 | g.7184418T>A | CA403669852 | INSR | c.872A>T (p.His291Leu) n.847A>T c.950A>T (p.His317Leu) | |
| 19 | g.7184418T>C | CA403669853 | INSR | c.872A>G (p.His291Arg) n.847A>G c.950A>G (p.His317Arg) | |
| 19 | g.7184418T>G | CA403669854 | INSR | c.872A>C (p.His291Pro) n.847A>C c.950A>C (p.His317Pro) | |
| 19 | g.7184419G>A | CA403669855 | INSR | c.871C>T (p.His291Tyr) n.846C>T c.949C>T (p.His317Tyr) | |
| 19 | g.7184419G>C | CA403669856 | INSR | c.871C>G (p.His291Asp) n.846C>G c.949C>G (p.His317Asp) | |
| 19 | g.7184419G>T | CA403669857 | INSR | c.871C>A (p.His291Asn) n.846C>A c.949C>A (p.His317Asn) | |
| 19 | g.7184420G>A | CA9135995 | INSR | c.870C>T (p.His290=) n.845C>T c.948C>T (p.His316=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184420G>C | CA403669858 | INSR | c.870C>G (p.His290Gln) n.845C>G c.948C>G (p.His316Gln) | |
| 19 | g.7184420G= | CA2320796169 | INSR | c.870C= (p.His290=) n.845C= c.948C= (p.His316=) | |
| 19 | g.7184420G>T | CA403669859 | INSR | c.870C>A (p.His290Gln) n.845C>A c.948C>A (p.His316Gln) | gnomAD v4 |
| 19 | g.7184421T>A | CA403669860 | INSR | c.869A>T (p.His290Leu) n.844A>T c.947A>T (p.His316Leu) | |
| 19 | g.7184421T>C | CA403669861 | INSR | c.869A>G (p.His290Arg) n.844A>G c.947A>G (p.His316Arg) | |
| 19 | g.7184421T>G | CA403669862 | INSR | c.869A>C (p.His290Pro) n.844A>C c.947A>C (p.His316Pro) | |
| 19 | g.7184422G>A | CA403669864 | INSR | c.868C>T (p.His290Tyr) n.843C>T c.946C>T (p.His316Tyr) | |
| 19 | g.7184422G>C | CA403669865 | INSR | c.868C>G (p.His290Asp) n.843C>G c.946C>G (p.His316Asp) | |
| 19 | g.7184422G>T | CA403669863 | INSR | c.868C>A (p.His290Asn) n.843C>A c.946C>A (p.His316Asn) | |
| 19 | g.7184423C>A | CA505400354 | INSR | c.867G>T (p.Leu289=) n.842G>T c.945G>T (p.Leu315=) | |
| 19 | g.7184423C>G | CA505400353 | INSR | c.867G>C (p.Leu289=) n.842G>C c.945G>C (p.Leu315=) | |
| 19 | g.7184423C>T | CA505400352 | INSR | c.867G>A (p.Leu289=) n.842G>A c.945G>A (p.Leu315=) | |
| 19 | g.7184424A>C | CA403669866 | INSR | c.866T>G (p.Leu289Arg) n.841T>G c.944T>G (p.Leu315Arg) | |
| 19 | g.7184424A>G | CA403669867 | INSR | c.866T>C (p.Leu289Pro) n.841T>C c.944T>C (p.Leu315Pro) | |
| 19 | g.7184424A>T | CA403669868 | INSR | c.866T>A (p.Leu289Gln) n.841T>A c.944T>A (p.Leu315Gln) | |
| 19 | g.7184425_7184426insAACCAGGTGTAG | CA2695228026 | INSR | c.866_867insACACCTGGTTCT (p.Leu289_His290insHisLeuValLeu) n.841_842insACACCTGGTTCT c.944_945insACACCTGGTTCT (p.Leu315_His316insHisLeuValLeu) | |
| 19 | g.7184425G>A | CA9135996 | INSR | c.865C>T (p.Leu289=) n.840C>T c.943C>T (p.Leu315=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184425G>C | CA403669869 | INSR | c.865C>G (p.Leu289Val) n.840C>G c.943C>G (p.Leu315Val) | |
| 19 | g.7184425G= | CA2320796174 | INSR | c.865C= (p.Leu289=) n.840C= c.943C= (p.Leu315=) | |
| 19 | g.7184425G>T | CA403669870 | INSR | c.865C>A (p.Leu289Met) n.840C>A c.943C>A (p.Leu315Met) | |
| 19 | g.7184426G>A | CA505400355 | INSR | c.864C>T (p.Asp288=) n.839C>T c.942C>T (p.Asp314=) | |
| 19 | g.7184426G>C | CA403669871 | INSR | c.864C>G (p.Asp288Glu) n.839C>G c.942C>G (p.Asp314Glu) | |
| 19 | g.7184426G>T | CA403669872 | INSR | c.864C>A (p.Asp288Glu) n.839C>A c.942C>A (p.Asp314Glu) | |
| 19 | g.7184427T>A | CA403669873 | INSR | c.863A>T (p.Asp288Val) n.838A>T c.941A>T (p.Asp314Val) | |
| 19 | g.7184427T>C | CA403669874 | INSR | c.863A>G (p.Asp288Gly) n.838A>G c.941A>G (p.Asp314Gly) | gnomAD v4 |
| 19 | g.7184427T>G | CA403669875 | INSR | c.863A>C (p.Asp288Ala) n.838A>C c.941A>C (p.Asp314Ala) | |
| 19 | g.7184428C>A | CA403669876 | INSR | c.862G>T (p.Asp288Tyr) n.837G>T c.940G>T (p.Asp314Tyr) | |
| 19 | g.7184428C= | CA2320796177 | INSR | c.862G= (p.Asp288=) n.837G= c.940G= (p.Asp314=) | |
| 19 | g.7184428C>G | CA403669877 | INSR | c.862G>C (p.Asp288His) n.837G>C c.940G>C (p.Asp314His) | |
| 19 | g.7184428C>T | CA403669878 | INSR | c.862G>A (p.Asp288Asn) n.837G>A c.940G>A (p.Asp314Asn) | dbSNP gnomAD v4 |
| 19 | g.7184429C>A | CA403669879 | INSR | c.861G>T (p.Gln287His) n.836G>T c.939G>T (p.Gln313His) | |
| 19 | g.7184429C>G | CA403669880 | INSR | c.861G>C (p.Gln287His) n.836G>C c.939G>C (p.Gln313His) | |
| 19 | g.7184429C>T | CA505400356 | INSR | c.861G>A (p.Gln287=) n.836G>A c.939G>A (p.Gln313=) | |
| 19 | g.7184430T>A | CA403669881 | INSR | c.860A>T (p.Gln287Leu) n.835A>T c.938A>T (p.Gln313Leu) | |
| 19 | g.7184430T>C | CA9135997 | INSR | c.860A>G (p.Gln287Arg) n.835A>G c.938A>G (p.Gln313Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184430T>G | CA403669882 | INSR | c.860A>C (p.Gln287Pro) n.835A>C c.938A>C (p.Gln313Pro) | |
| 19 | g.7184430T= | CA2320796180 | INSR | c.860A= (p.Gln287=) n.835A= c.938A= (p.Gln313=) | |
| 19 | g.7184431G>A | CA403669883 | INSR | c.859C>T (p.Gln287Ter) n.834C>T c.937C>T (p.Gln313Ter) | |
| 19 | g.7184431G>C | CA403669885 | INSR | c.859C>G (p.Gln287Glu) n.834C>G c.937C>G (p.Gln313Glu) | |
| 19 | g.7184431G>T | CA403669884 | INSR | c.859C>A (p.Gln287Lys) n.834C>A c.937C>A (p.Gln313Lys) | |
| 19 | g.7184432G>A | CA505400357 | INSR | c.858C>T (p.Cys286=) n.833C>T c.936C>T (p.Cys312=) | |
| 19 | g.7184432G>C | CA403669886 | INSR | c.858C>G (p.Cys286Trp) n.833C>G c.936C>G (p.Cys312Trp) | |
| 19 | g.7184432G>T | CA403669887 | INSR | c.858C>A (p.Cys286Ter) n.833C>A c.936C>A (p.Cys312Ter) | |
| 19 | g.7184433C>A | CA403669888 | INSR | c.857G>T (p.Cys286Phe) n.832G>T c.935G>T (p.Cys312Phe) | |
| 19 | g.7184433C= | CA2320796182 | INSR | c.857G= (p.Cys286=) n.832G= c.935G= (p.Cys312=) | |
| 19 | g.7184433C>G | CA403669889 | INSR | c.857G>C (p.Cys286Ser) n.832G>C c.935G>C (p.Cys312Ser) | dbSNP |
| 19 | g.7184433C>T | CA403669890 | INSR | c.857G>A (p.Cys286Tyr) n.832G>A c.935G>A (p.Cys312Tyr) | |
| 19 | g.7184434A>C | CA403669891 | INSR | c.856T>G (p.Cys286Gly) n.831T>G c.934T>G (p.Cys312Gly) | |
| 19 | g.7184434A>G | CA403669892 | INSR | c.856T>C (p.Cys286Arg) n.831T>C c.934T>C (p.Cys312Arg) | |
| 19 | g.7184434A>T | CA403669893 | INSR | c.856T>A (p.Cys286Ser) n.831T>A c.934T>A (p.Cys312Ser) | |
| 19 | g.7184435G>A | CA505400408 | INSR | c.855C>T (p.Phe285=) n.830C>T c.933C>T (p.Phe311=) | dbSNP |
| 19 | g.7184435G>C | CA403669894 | INSR | c.855C>G (p.Phe285Leu) n.830C>G c.933C>G (p.Phe311Leu) | |
| 19 | g.7184435G= | CA2320796185 | INSR | c.855C= (p.Phe285=) n.830C= c.933C= (p.Phe311=) | |
| 19 | g.7184435G>T | CA403669895 | INSR | c.855C>A (p.Phe285Leu) n.830C>A c.933C>A (p.Phe311Leu) | |
| 19 | g.7184436A>C | CA403669898 | INSR | c.854T>G (p.Phe285Cys) n.829T>G c.932T>G (p.Phe311Cys) | |
| 19 | g.7184436A>G | CA403669897 | INSR | c.854T>C (p.Phe285Ser) n.829T>C c.932T>C (p.Phe311Ser) | |
| 19 | g.7184436A>T | CA403669896 | INSR | c.854T>A (p.Phe285Tyr) n.829T>A c.932T>A (p.Phe311Tyr) | |
| 19 | g.7184437A>C | CA403669899 | INSR | c.853T>G (p.Phe285Val) n.828T>G c.931T>G (p.Phe311Val) | |
| 19 | g.7184437A>G | CA403669900 | INSR | c.853T>C (p.Phe285Leu) n.828T>C c.931T>C (p.Phe311Leu) | gnomAD v4 |
| 19 | g.7184437A>T | CA403669901 | INSR | c.853T>A (p.Phe285Ile) n.828T>A c.931T>A (p.Phe311Ile) | |
| 19 | g.7184438G>A | CA505400411 | INSR | c.852C>T (p.Ser284=) n.827C>T c.930C>T (p.Ser310=) | |
| 19 | g.7184438G>C | CA403669902 | INSR | c.852C>G (p.Ser284Arg) n.827C>G c.930C>G (p.Ser310Arg) | |
| 19 | g.7184438G>T | CA403669903 | INSR | c.852C>A (p.Ser284Arg) n.827C>A c.930C>A (p.Ser310Arg) | |
| 19 | g.7184439C>A | CA403669904 | INSR | c.851G>T (p.Ser284Ile) n.826G>T c.929G>T (p.Ser310Ile) | |
| 19 | g.7184439C>G | CA403669905 | INSR | c.851G>C (p.Ser284Thr) n.826G>C c.929G>C (p.Ser310Thr) | |
| 19 | g.7184439C>T | CA403669906 | INSR | c.851G>A (p.Ser284Asn) n.826G>A c.929G>A (p.Ser310Asn) | ClinVar dbSNP |
| 19 | g.7184440T>A | CA403669907 | INSR | c.850A>T (p.Ser284Cys) n.825A>T c.928A>T (p.Ser310Cys) | |
| 19 | g.7184440T>C | CA403669908 | INSR | c.850A>G (p.Ser284Gly) n.825A>G c.928A>G (p.Ser310Gly) | |
| 19 | g.7184440T>G | CA403669909 | INSR | c.850A>C (p.Ser284Arg) n.825A>C c.928A>C (p.Ser310Arg) | |
| 19 | g.7184441G>A | CA505400415 | INSR | c.849C>T (p.Phe283=) n.824C>T c.927C>T (p.Phe309=) | dbSNP gnomAD v4 |
| 19 | g.7184441G>C | CA403669911 | INSR | c.849C>G (p.Phe283Leu) n.824C>G c.927C>G (p.Phe309Leu) | |
| 19 | g.7184441G= | CA2320796187 | INSR | c.849C= (p.Phe283=) n.824C= c.927C= (p.Phe309=) | |
| 19 | g.7184441G>T | CA403669910 | INSR | c.849C>A (p.Phe283Leu) n.824C>A c.927C>A (p.Phe309Leu) | |
| 19 | g.7184442A>C | CA403669912 | INSR | c.848T>G (p.Phe283Cys) n.823T>G c.926T>G (p.Phe309Cys) | |
| 19 | g.7184442A>G | CA403669913 | INSR | c.848T>C (p.Phe283Ser) n.823T>C c.926T>C (p.Phe309Ser) | gnomAD v4 |
| 19 | g.7184442A>T | CA403669914 | INSR | c.848T>A (p.Phe283Tyr) n.823T>A c.926T>A (p.Phe309Tyr) | |
| 19 | g.7184443A>C | CA403669915 | INSR | c.847T>G (p.Phe283Val) n.822T>G c.925T>G (p.Phe309Val) | |
| 19 | g.7184443A>G | CA403669916 | INSR | c.847T>C (p.Phe283Leu) n.822T>C c.925T>C (p.Phe309Leu) | |
| 19 | g.7184443A>T | CA403669917 | INSR | c.847T>A (p.Phe283Ile) n.822T>A c.925T>A (p.Phe309Ile) | |
| 19 | g.7184444G>A | CA505400418 | INSR | c.846C>T (p.Asn282=) n.821C>T c.924C>T (p.Asn308=) | |
| 19 | g.7184444G>C | CA403669919 | INSR | c.846C>G (p.Asn282Lys) n.821C>G c.924C>G (p.Asn308Lys) | gnomAD v4 |
| 19 | g.7184444G>T | CA403669918 | INSR | c.846C>A (p.Asn282Lys) n.821C>A c.924C>A (p.Asn308Lys) | |
| 19 | g.7184445T>A | CA403669920 | INSR | c.845A>T (p.Asn282Ile) n.820A>T c.923A>T (p.Asn308Ile) | |
| 19 | g.7184445T>C | CA403669921 | INSR | c.845A>G (p.Asn282Ser) n.820A>G c.923A>G (p.Asn308Ser) | |
| 19 | g.7184445T>G | CA403669922 | INSR | c.845A>C (p.Asn282Thr) n.820A>C c.923A>C (p.Asn308Thr) | gnomAD v4 |
| 19 | g.7184446T>A | CA403669923 | INSR | c.844A>T (p.Asn282Tyr) n.819A>T c.922A>T (p.Asn308Tyr) | |
| 19 | g.7184446T>C | CA403669924 | INSR | c.844A>G (p.Asn282Asp) n.819A>G c.922A>G (p.Asn308Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184446T>G | CA403669925 | INSR | c.844A>C (p.Asn282His) n.819A>C c.922A>C (p.Asn308His) | |
| 19 | g.7184446T= | CA2320796189 | INSR | c.844A= (p.Asn282=) n.819A= c.922A= (p.Asn308=) | |
| 19 | g.7184447C>A | CA505400421 | INSR | c.843G>T (p.Val281=) n.818G>T c.921G>T (p.Val307=) | |
| 19 | g.7184447C>G | CA505400422 | INSR | c.843G>C (p.Val281=) n.818G>C c.921G>C (p.Val307=) | |
| 19 | g.7184447C>T | CA505400423 | INSR | c.843G>A (p.Val281=) n.818G>A c.921G>A (p.Val307=) | |
| 19 | g.7184448A>C | CA403669926 | INSR | c.842T>G (p.Val281Gly) n.817T>G c.920T>G (p.Val307Gly) | |
| 19 | g.7184448A>G | CA403669928 | INSR | c.842T>C (p.Val281Ala) n.817T>C c.920T>C (p.Val307Ala) | |
| 19 | g.7184448A>T | CA403669927 | INSR | c.842T>A (p.Val281Glu) n.817T>A c.920T>A (p.Val307Glu) | |
| 19 | g.7184449C>A | CA403669929 | INSR | c.841G>T (p.Val281Leu) n.816G>T c.919G>T (p.Val307Leu) | |
| 19 | g.7184449C>G | CA403669930 | INSR | c.841G>C (p.Val281Leu) n.816G>C c.919G>C (p.Val307Leu) | |
| 19 | g.7184449C>T | CA403669931 | INSR | c.841G>A (p.Val281Met) n.816G>A c.919G>A (p.Val307Met) | |
| 19 | g.7184450A= | CA2320796193 | INSR | c.840T= (p.Cys280=) n.815T= c.918T= (p.Cys306=) | |
| 19 | g.7184450A>C | CA403669932 | INSR | c.840T>G (p.Cys280Trp) n.815T>G c.918T>G (p.Cys306Trp) | |
| 19 | g.7184450A>G | CA505400427 | INSR | c.840T>C (p.Cys280=) n.815T>C c.918T>C (p.Cys306=) | dbSNP |
| 19 | g.7184450A>T | CA403669933 | INSR | c.840T>A (p.Cys280Ter) n.815T>A c.918T>A (p.Cys306Ter) | |
| 19 | g.7184451C>A | CA403669934 | INSR | c.839G>T (p.Cys280Phe) n.814G>T c.917G>T (p.Cys306Phe) | |
| 19 | g.7184451C= | CA2320796197 | INSR | c.839G= (p.Cys280=) n.814G= c.917G= (p.Cys306=) | |
| 19 | g.7184451C>G | CA403669935 | INSR | c.839G>C (p.Cys280Ser) n.814G>C c.917G>C (p.Cys306Ser) | dbSNP |
| 19 | g.7184451C>T | CA403669936 | INSR | c.839G>A (p.Cys280Tyr) n.814G>A c.917G>A (p.Cys306Tyr) | |
| 19 | g.7184452A>C | CA403669937 | INSR | c.838T>G (p.Cys280Gly) n.813T>G c.916T>G (p.Cys306Gly) | |
| 19 | g.7184452A>G | CA403669938 | INSR | c.838T>C (p.Cys280Arg) n.813T>C c.916T>C (p.Cys306Arg) | |
| 19 | g.7184452A>T | CA403669939 | INSR | c.838T>A (p.Cys280Ser) n.813T>A c.916T>A (p.Cys306Ser) | |
| 19 | g.7184453G>A | CA505400431 | INSR | c.837C>T (p.Arg279=) n.812C>T c.915C>T (p.Arg305=) | |
| 19 | g.7184453G>C | CA505400432 | INSR | c.837C>G (p.Arg279=) n.812C>G c.915C>G (p.Arg305=) | |
| 19 | g.7184453G>T | CA505400433 | INSR | c.837C>A (p.Arg279=) n.812C>A c.915C>A (p.Arg305=) | |
| 19 | g.7184454C>A | CA403669941 | INSR | c.836G>T (p.Arg279Leu) n.811G>T c.914G>T (p.Arg305Leu) | |
| 19 | g.7184454C= | CA2320796202 | INSR | c.836G= (p.Arg279=) n.811G= c.914G= (p.Arg305=) | |
| 19 | g.7184454C>G | CA403669942 | INSR | c.836G>C (p.Arg279Pro) n.811G>C c.914G>C (p.Arg305Pro) | |
| 19 | g.7184454C>T | CA403669940 | INSR | c.836G>A (p.Arg279His) n.811G>A c.914G>A (p.Arg305His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7184455G>A | CA403669945 | INSR | c.835C>T (p.Arg279Cys) n.810C>T c.913C>T (p.Arg305Cys) | dbSNP gnomAD v4 |
| 19 | g.7184455G>C | CA403669943 | INSR | c.835C>G (p.Arg279Gly) n.810C>G c.913C>G (p.Arg305Gly) | |
| 19 | g.7184455G= | CA2320796205 | INSR | c.835C= (p.Arg279=) n.810C= c.913C= (p.Arg305=) | |
| 19 | g.7184455G>T | CA403669944 | INSR | c.835C>A (p.Arg279Ser) n.810C>A c.913C>A (p.Arg305Ser) | gnomAD v4 |
| 19 | g.7184456C>A | CA403669946 | INSR | c.834G>T (p.Trp278Cys) n.809G>T c.912G>T (p.Trp304Cys) | |
| 19 | g.7184456C>G | CA403669947 | INSR | c.834G>C (p.Trp278Cys) n.809G>C c.912G>C (p.Trp304Cys) | |
| 19 | g.7184456C>T | CA403669948 | INSR | c.834G>A (p.Trp278Ter) n.809G>A c.912G>A (p.Trp304Ter) | |
| 19 | g.7184457C>A | CA403669949 | INSR | c.833G>T (p.Trp278Leu) n.808G>T c.911G>T (p.Trp304Leu) | |
| 19 | g.7184457C>G | CA403669950 | INSR | c.833G>C (p.Trp278Ser) n.808G>C c.911G>C (p.Trp304Ser) | |
| 19 | g.7184457C>T | CA403669951 | INSR | c.833G>A (p.Trp278Ter) n.808G>A c.911G>A (p.Trp304Ter) | |
| 19 | g.7184458A>C | CA403669952 | INSR | c.832T>G (p.Trp278Gly) n.807T>G c.910T>G (p.Trp304Gly) | |
| 19 | g.7184458A>G | CA403669953 | INSR | c.832T>C (p.Trp278Arg) n.807T>C c.910T>C (p.Trp304Arg) | gnomAD v4 |
| 19 | g.7184458A>T | CA403669954 | INSR | c.832T>A (p.Trp278Arg) n.807T>A c.910T>A (p.Trp304Arg) | |
| 19 | g.7184459G>A | CA505400436 | INSR | c.831C>T (p.Asp277=) n.806C>T c.909C>T (p.Asp303=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184459G>C | CA403669955 | INSR | c.831C>G (p.Asp277Glu) n.806C>G c.909C>G (p.Asp303Glu) | |
| 19 | g.7184459G= | CA2320796208 | INSR | c.831C= (p.Asp277=) n.806C= c.909C= (p.Asp303=) | |
| 19 | g.7184459G>T | CA403669956 | INSR | c.831C>A (p.Asp277Glu) n.806C>A c.909C>A (p.Asp303Glu) | |
| 19 | g.7184460T>A | CA403669959 | INSR | c.830A>T (p.Asp277Val) n.805A>T c.908A>T (p.Asp303Val) | |
| 19 | g.7184460T>C | CA403669957 | INSR | c.830A>G (p.Asp277Gly) n.805A>G c.908A>G (p.Asp303Gly) | |
| 19 | g.7184460T>G | CA403669958 | INSR | c.830A>C (p.Asp277Ala) n.805A>C c.908A>C (p.Asp303Ala) | |
| 19 | g.7184461C>A | CA403669960 | INSR | c.829G>T (p.Asp277Tyr) n.804G>T c.907G>T (p.Asp303Tyr) | |
| 19 | g.7184461C>G | CA403669961 | INSR | c.829G>C (p.Asp277His) n.804G>C c.907G>C (p.Asp303His) | |
| 19 | g.7184461C>T | CA403669962 | INSR | c.829G>A (p.Asp277Asn) n.804G>A c.907G>A (p.Asp303Asn) | COSMIC COSMIC |
| 19 | g.7184462C>A | CA403669963 | INSR | c.828G>T (p.Gln276His) n.803G>T c.906G>T (p.Gln302His) | gnomAD v4 |
| 19 | g.7184462C= | CA2320796211 | INSR | c.828G= (p.Gln276=) n.803G= c.906G= (p.Gln302=) | |
| 19 | g.7184462C>G | CA403669964 | INSR | c.828G>C (p.Gln276His) n.803G>C c.906G>C (p.Gln302His) | |
| 19 | g.7184462C>T | CA9135998 | INSR | c.828G>A (p.Gln276=) n.803G>A c.906G>A (p.Gln302=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184463T>A | CA403669965 | INSR | c.827A>T (p.Gln276Leu) n.802A>T c.905A>T (p.Gln302Leu) | |
| 19 | g.7184463T>C | CA403669966 | INSR | c.827A>G (p.Gln276Arg) n.802A>G c.905A>G (p.Gln302Arg) | |
| 19 | g.7184463T>G | CA403669967 | INSR | c.827A>C (p.Gln276Pro) n.802A>C c.905A>C (p.Gln302Pro) | |
| 19 | g.7184464G>A | CA403669968 | INSR | c.826C>T (p.Gln276Ter) n.801C>T c.904C>T (p.Gln302Ter) | COSMIC COSMIC |
| 19 | g.7184464G>C | CA403669969 | INSR | c.826C>G (p.Gln276Glu) n.801C>G c.904C>G (p.Gln302Glu) | |
| 19 | g.7184464G= | CA2320796216 | INSR | c.826C= (p.Gln276=) n.801C= c.904C= (p.Gln302=) | |
| 19 | g.7184464G>T | CA9135999 | INSR | c.826C>A (p.Gln276Lys) n.801C>A c.904C>A (p.Gln302Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184465G>A | CA505400443 | INSR | c.825C>T (p.Phe275=) n.800C>T c.903C>T (p.Phe301=) | |
| 19 | g.7184465G>C | CA403669971 | INSR | c.825C>G (p.Phe275Leu) n.800C>G c.903C>G (p.Phe301Leu) | |
| 19 | g.7184465G= | CA2320796220 | INSR | c.825C= (p.Phe275=) n.800C= c.903C= (p.Phe301=) | |
| 19 | g.7184465G>T | CA403669970 | INSR | c.825C>A (p.Phe275Leu) n.800C>A c.903C>A (p.Phe301Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184466A>C | CA403669972 | INSR | c.824T>G (p.Phe275Cys) n.799T>G c.902T>G (p.Phe301Cys) | |
| 19 | g.7184466A>G | CA403669973 | INSR | c.824T>C (p.Phe275Ser) n.799T>C c.902T>C (p.Phe301Ser) | |
| 19 | g.7184466A>T | CA403669974 | INSR | c.824T>A (p.Phe275Tyr) n.799T>A c.902T>A (p.Phe301Tyr) | |
| 19 | g.7184467A>C | CA403669975 | INSR | c.823T>G (p.Phe275Val) n.798T>G c.901T>G (p.Phe301Val) | |
| 19 | g.7184467A>G | CA403669976 | INSR | c.823T>C (p.Phe275Leu) n.798T>C c.901T>C (p.Phe301Leu) | |
| 19 | g.7184467A>T | CA403669977 | INSR | c.823T>A (p.Phe275Ile) n.798T>A c.901T>A (p.Phe301Ile) | |
| 19 | g.7184468G>A | CA304866565 | INSR | c.822C>T (p.His274=) n.797C>T c.900C>T (p.His300=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184468G>C | CA403669978 | INSR | c.822C>G (p.His274Gln) n.797C>G c.900C>G (p.His300Gln) | gnomAD v4 |
| 19 | g.7184468G= | CA2320796223 | INSR | c.822C= (p.His274=) n.797C= c.900C= (p.His300=) | |
| 19 | g.7184468G>T | CA403669979 | INSR | c.822C>A (p.His274Gln) n.797C>A c.900C>A (p.His300Gln) | |
| 19 | g.7184469T>A | CA403669980 | INSR | c.821A>T (p.His274Leu) n.796A>T c.899A>T (p.His300Leu) | |
| 19 | g.7184469T>C | CA403669981 | INSR | c.821A>G (p.His274Arg) n.796A>G c.899A>G (p.His300Arg) | |
| 19 | g.7184469T>G | CA403669982 | INSR | c.821A>C (p.His274Pro) n.796A>C c.899A>C (p.His300Pro) | |
| 19 | g.7184470G>A | CA403669983 | INSR | c.820C>T (p.His274Tyr) n.795C>T c.898C>T (p.His300Tyr) | |
| 19 | g.7184470G>C | CA403669984 | INSR | c.820C>G (p.His274Asp) n.795C>G c.898C>G (p.His300Asp) | dbSNP |
| 19 | g.7184470G= | CA2320796227 | INSR | c.820C= (p.His274=) n.795C= c.898C= (p.His300=) | |
| 19 | g.7184470G>T | CA403669985 | INSR | c.820C>A (p.His274Asn) n.795C>A c.898C>A (p.His300Asn) | |
| 19 | g.7184471G>A | CA505400449 | INSR | c.819C>T (p.Tyr273=) n.794C>T c.897C>T (p.Tyr299=) | dbSNP |
| 19 | g.7184471G>C | CA403669987 | INSR | c.819C>G (p.Tyr273Ter) n.794C>G c.897C>G (p.Tyr299Ter) | |
| 19 | g.7184471G= | CA2320796229 | INSR | c.819C= (p.Tyr273=) n.794C= c.897C= (p.Tyr299=) | |
| 19 | g.7184471G>T | CA403669986 | INSR | c.819C>A (p.Tyr273Ter) n.794C>A c.897C>A (p.Tyr299Ter) | |
| 19 | g.7184472T>A | CA403669988 | INSR | c.818A>T (p.Tyr273Phe) n.793A>T c.896A>T (p.Tyr299Phe) | |
| 19 | g.7184472T>C | CA403669989 | INSR | c.818A>G (p.Tyr273Cys) n.793A>G c.896A>G (p.Tyr299Cys) | |
| 19 | g.7184472T>G | CA403669990 | INSR | c.818A>C (p.Tyr273Ser) n.793A>C c.896A>C (p.Tyr299Ser) | |
| 19 | g.7184473A>C | CA403669991 | INSR | c.817T>G (p.Tyr273Asp) n.792T>G c.895T>G (p.Tyr299Asp) | |
| 19 | g.7184473A>G | CA403669992 | INSR | c.817T>C (p.Tyr273His) n.792T>C c.895T>C (p.Tyr299His) | |
| 19 | g.7184473A>T | CA403669993 | INSR | c.817T>A (p.Tyr273Asn) n.792T>A c.895T>A (p.Tyr299Asn) | |
| 19 | g.7184474G>A | CA505400452 | INSR | c.816C>T (p.Tyr272=) n.791C>T c.894C>T (p.Tyr298=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184474G>C | CA403669994 | INSR | c.816C>G (p.Tyr272Ter) n.791C>G c.894C>G (p.Tyr298Ter) | |
| 19 | g.7184474G= | CA2320796232 | INSR | c.816C= (p.Tyr272=) n.791C= c.894C= (p.Tyr298=) | |
| 19 | g.7184474G>T | CA403669995 | INSR | c.816C>A (p.Tyr272Ter) n.791C>A c.894C>A (p.Tyr298Ter) | |
| 19 | g.7184475T>A | CA403669996 | INSR | c.815A>T (p.Tyr272Phe) n.790A>T c.893A>T (p.Tyr298Phe) | |
| 19 | g.7184475T>C | CA403669997 | INSR | c.815A>G (p.Tyr272Cys) n.790A>G c.893A>G (p.Tyr298Cys) | gnomAD v4 |
| 19 | g.7184475T>G | CA403669998 | INSR | c.815A>C (p.Tyr272Ser) n.790A>C c.893A>C (p.Tyr298Ser) | |
| 19 | g.7184476A>C | CA403669999 | INSR | c.814T>G (p.Tyr272Asp) n.789T>G c.892T>G (p.Tyr298Asp) | |
| 19 | g.7184476A>G | CA403670000 | INSR | c.814T>C (p.Tyr272His) n.789T>C c.892T>C (p.Tyr298His) | gnomAD v4 COSMIC COSMIC |
| 19 | g.7184476A>T | CA403670001 | INSR | c.814T>A (p.Tyr272Asn) n.789T>A c.892T>A (p.Tyr298Asn) | |
| 19 | g.7184477C>A | CA505400456 | INSR | c.813G>T (p.Pro271=) n.788G>T c.891G>T (p.Pro297=) | |
| 19 | g.7184477C= | CA2320796235 | INSR | c.813G= (p.Pro271=) n.788G= c.891G= (p.Pro297=) | |
| 19 | g.7184477C>G | CA9136001 | INSR | c.813G>C (p.Pro271=) n.788G>C c.891G>C (p.Pro297=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184477C>T | CA9136000 | INSR | c.813G>A (p.Pro271=) n.788G>A c.891G>A (p.Pro297=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184478G>A | CA9136002 | INSR | c.812C>T (p.Pro271Leu) n.787C>T c.890C>T (p.Pro297Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7184478G>C | CA403670003 | INSR | c.812C>G (p.Pro271Arg) n.787C>G c.890C>G (p.Pro297Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7184478G= | CA2320796241 | INSR | c.812C= (p.Pro271=) n.787C= c.890C= (p.Pro297=) | |
| 19 | g.7184478G>T | CA403670002 | INSR | c.812C>A (p.Pro271Gln) n.787C>A c.890C>A (p.Pro297Gln) | gnomAD v4 |
| 19 | g.7184482dup | CA2813464192 | INSR | c.812dup (p.Tyr272ValfsTer?) n.787dup c.890dup (p.Tyr298ValfsTer?) | |
| 19 | g.7184479G>A | CA9136003 | INSR | c.811C>T (p.Pro271Ser) n.786C>T c.889C>T (p.Pro297Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184479G>C | CA403670005 | INSR | c.811C>G (p.Pro271Ala) n.786C>G c.889C>G (p.Pro297Ala) | |
| 19 | g.7184479G= | CA2320796248 | INSR | c.811C= (p.Pro271=) n.786C= c.889C= (p.Pro297=) | |
| 19 | g.7184479G>T | CA403670004 | INSR | c.811C>A (p.Pro271Thr) n.786C>A c.889C>A (p.Pro297Thr) | |
| 19 | g.7184480G>A | CA505400461 | INSR | c.810C>T (p.Pro270=) n.785C>T c.888C>T (p.Pro296=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7184480G>C | CA505400462 | INSR | c.810C>G (p.Pro270=) n.785C>G c.888C>G (p.Pro296=) | |
| 19 | g.7184480G= | CA2320796250 | INSR | c.810C= (p.Pro270=) n.785C= c.888C= (p.Pro296=) | |
| 19 | g.7184480G>T | CA505400463 | INSR | c.810C>A (p.Pro270=) n.785C>A c.888C>A (p.Pro296=) | |
| 19 | g.7184481G>A | CA403670006 | INSR | c.809C>T (p.Pro270Leu) n.784C>T c.887C>T (p.Pro296Leu) | dbSNP gnomAD v4 |
| 19 | g.7184481G>C | CA403670008 | INSR | c.809C>G (p.Pro270Arg) n.784C>G c.887C>G (p.Pro296Arg) | |
| 19 | g.7184481G= | CA2320796253 | INSR | c.809C= (p.Pro270=) n.784C= c.887C= (p.Pro296=) | |
| 19 | g.7184481G>T | CA403670007 | INSR | c.809C>A (p.Pro270His) n.784C>A c.887C>A (p.Pro296His) |