| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7184542_7184544del | CA2695228027 | INSR | c.749_751del (p.Thr250del) n.724_726del c.827_829del (p.Thr276del) | |
| 19 | g.7184542T>A | CA403670277 | INSR | c.748A>T (p.Thr250Ser) n.723A>T c.826A>T (p.Thr276Ser) | |
| 19 | g.7184542T>C | CA403670279 | INSR | c.748A>G (p.Thr250Ala) n.723A>G c.826A>G (p.Thr276Ala) | |
| 19 | g.7184542T>G | CA403670281 | INSR | c.748A>C (p.Thr250Pro) n.723A>C c.826A>C (p.Thr276Pro) | gnomAD v4 |
| 19 | g.7184543G>A | CA505400500 | INSR | c.747C>T (p.Pro249=) n.722C>T c.825C>T (p.Pro275=) | |
| 19 | g.7184543G>C | CA505400501 | INSR | c.747C>G (p.Pro249=) n.722C>G c.825C>G (p.Pro275=) | |
| 19 | g.7184543G= | CA2320796324 | INSR | c.747C= (p.Pro249=) n.722C= c.825C= (p.Pro275=) | |
| 19 | g.7184543G>T | CA304866646 | INSR | c.747C>A (p.Pro249=) n.722C>A c.825C>A (p.Pro275=) | dbSNP |
| 19 | g.7184544G>A | CA403670285 | INSR | c.746C>T (p.Pro249Leu) n.721C>T c.824C>T (p.Pro275Leu) | |
| 19 | g.7184544G>C | CA403670287 | INSR | c.746C>G (p.Pro249Arg) n.721C>G c.824C>G (p.Pro275Arg) | |
| 19 | g.7184544G>T | CA403670289 | INSR | c.746C>A (p.Pro249His) n.721C>A c.824C>A (p.Pro275His) | gnomAD v4 |
| 19 | g.7184545G>A | CA403670292 | INSR | c.745C>T (p.Pro249Ser) n.720C>T c.823C>T (p.Pro275Ser) | COSMIC COSMIC |
| 19 | g.7184545G>C | CA403670294 | INSR | c.745C>G (p.Pro249Ala) n.720C>G c.823C>G (p.Pro275Ala) | |
| 19 | g.7184545G>T | CA403670296 | INSR | c.745C>A (p.Pro249Thr) n.720C>A c.823C>A (p.Pro275Thr) | |
| 19 | g.7184546G>A | CA505400502 | INSR | c.744C>T (p.Asp248=) n.719C>T c.822C>T (p.Asp274=) | dbSNP gnomAD v4 |
| 19 | g.7184546G>C | CA403670299 | INSR | c.744C>G (p.Asp248Glu) n.719C>G c.822C>G (p.Asp274Glu) | |
| 19 | g.7184546G= | CA2320796325 | INSR | c.744C= (p.Asp248=) n.719C= c.822C= (p.Asp274=) | |
| 19 | g.7184546G>T | CA403670301 | INSR | c.744C>A (p.Asp248Glu) n.719C>A c.822C>A (p.Asp274Glu) | |
| 19 | g.7184547T>A | CA403670305 | INSR | c.743A>T (p.Asp248Val) n.718A>T c.821A>T (p.Asp274Val) | |
| 19 | g.7184547T>C | CA403670308 | INSR | c.743A>G (p.Asp248Gly) n.718A>G c.821A>G (p.Asp274Gly) | |
| 19 | g.7184547T>G | CA304866647 | INSR | c.743A>C (p.Asp248Ala) n.718A>C c.821A>C (p.Asp274Ala) | dbSNP |
| 19 | g.7184547T= | CA2320796326 | INSR | c.743A= (p.Asp248=) n.718A= c.821A= (p.Asp274=) | |
| 19 | g.7184548C>A | CA403670310 | INSR | c.742G>T (p.Asp248Tyr) n.717G>T c.820G>T (p.Asp274Tyr) | |
| 19 | g.7184548C= | CA2320796327 | INSR | c.742G= (p.Asp248=) n.717G= c.820G= (p.Asp274=) | |
| 19 | g.7184548C>G | CA403670313 | INSR | c.742G>C (p.Asp248His) n.717G>C c.820G>C (p.Asp274His) | |
| 19 | g.7184548C>T | CA9136020 | INSR | c.742G>A (p.Asp248Asn) n.717G>A c.820G>A (p.Asp274Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184549G>A | CA9136021 | INSR | c.741C>T (p.Asp247=) n.716C>T c.819C>T (p.Asp273=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184549G>C | CA403670318 | INSR | c.741C>G (p.Asp247Glu) n.716C>G c.819C>G (p.Asp273Glu) | |
| 19 | g.7184549G= | CA2320796328 | INSR | c.741C= (p.Asp247=) n.716C= c.819C= (p.Asp273=) | |
| 19 | g.7184549G>T | CA403670320 | INSR | c.741C>A (p.Asp247Glu) n.716C>A c.819C>A (p.Asp273Glu) | gnomAD v4 |
| 19 | g.7184550T>A | CA403670327 | INSR | c.740A>T (p.Asp247Val) n.715A>T c.818A>T (p.Asp273Val) | |
| 19 | g.7184550T>C | CA403670323 | INSR | c.740A>G (p.Asp247Gly) n.715A>G c.818A>G (p.Asp273Gly) | |
| 19 | g.7184550T>G | CA403670325 | INSR | c.740A>C (p.Asp247Ala) n.715A>C c.818A>C (p.Asp273Ala) | |
| 19 | g.7184551C>A | CA403670329 | INSR | c.739G>T (p.Asp247Tyr) n.714G>T c.817G>T (p.Asp273Tyr) | COSMIC COSMIC |
| 19 | g.7184551C= | CA2320796329 | INSR | c.739G= (p.Asp247=) n.714G= c.817G= (p.Asp273=) | |
| 19 | g.7184551C>G | CA403670331 | INSR | c.739G>C (p.Asp247His) n.714G>C c.817G>C (p.Asp273His) | |
| 19 | g.7184551C>T | CA9136022 | INSR | c.739G>A (p.Asp247Asn) n.714G>A c.817G>A (p.Asp273Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184552G>A | CA9136023 | INSR | c.738C>T (p.Pro246=) n.713C>T c.816C>T (p.Pro272=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7184552G>C | CA9136024 | INSR | c.738C>G (p.Pro246=) n.713C>G c.816C>G (p.Pro272=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184552G= | CA2320796330 | INSR | c.738C= (p.Pro246=) n.713C= c.816C= (p.Pro272=) | |
| 19 | g.7184552G>T | CA505400503 | INSR | c.738C>A (p.Pro246=) n.713C>A c.816C>A (p.Pro272=) | |
| 19 | g.7184553G>A | CA9136025 | INSR | c.737C>T (p.Pro246Leu) n.712C>T c.815C>T (p.Pro272Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184553G>C | CA403670342 | INSR | c.737C>G (p.Pro246Arg) n.712C>G c.815C>G (p.Pro272Arg) | |
| 19 | g.7184553G= | CA2320796331 | INSR | c.737C= (p.Pro246=) n.712C= c.815C= (p.Pro272=) | |
| 19 | g.7184553G>T | CA403670340 | INSR | c.737C>A (p.Pro246His) n.712C>A c.815C>A (p.Pro272His) | |
| 19 | g.7184554G>A | CA403670345 | INSR | c.736C>T (p.Pro246Ser) n.711C>T c.814C>T (p.Pro272Ser) | gnomAD v4 |
| 19 | g.7184554G>C | CA403670348 | INSR | c.736C>G (p.Pro246Ala) n.711C>G c.814C>G (p.Pro272Ala) | |
| 19 | g.7184554G= | CA2320796332 | INSR | c.736C= (p.Pro246=) n.711C= c.814C= (p.Pro272=) | |
| 19 | g.7184554G>T | CA403670349 | INSR | c.736C>A (p.Pro246Thr) n.711C>A c.814C>A (p.Pro272Thr) | dbSNP gnomAD v4 |
| 19 | g.7184555C>A | CA403670352 | INSR | c.735G>T (p.Gln245His) n.710G>T c.813G>T (p.Gln271His) |