| 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) |