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.7184542_7184544del | CA2695228027 | INSR | c.749_751del (p.Thr250del) n.724_726del c.827_829del (p.Thr276del) | |
| 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.7184553_7184554del | CA2813464193 | INSR | c.737_738del (p.Pro246ArgfsTer?) n.712_713del c.815_816del (p.Pro272ArgfsTer?) | |
| 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) | |
| 19 | g.7184555C>G | CA403670355 | INSR | c.735G>C (p.Gln245His) n.710G>C c.813G>C (p.Gln271His) | |
| 19 | g.7184555C>T | CA505400504 | INSR | c.735G>A (p.Gln245=) n.710G>A c.813G>A (p.Gln271=) | |
| 19 | g.7184556T>A | CA403670358 | INSR | c.734A>T (p.Gln245Leu) n.709A>T c.812A>T (p.Gln271Leu) | |
| 19 | g.7184556T>C | CA9136026 | INSR | c.734A>G (p.Gln245Arg) n.709A>G c.812A>G (p.Gln271Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184556T>G | CA403670361 | INSR | c.734A>C (p.Gln245Pro) n.709A>C c.812A>C (p.Gln271Pro) | |
| 19 | g.7184556T= | CA2320796333 | INSR | c.734A= (p.Gln245=) n.709A= c.812A= (p.Gln271=) | |
| 19 | g.7184557G>A | CA403670364 | INSR | c.733C>T (p.Gln245Ter) n.708C>T c.811C>T (p.Gln271Ter) | COSMIC COSMIC |
| 19 | g.7184557G>C | CA403670366 | INSR | c.733C>G (p.Gln245Glu) n.708C>G c.811C>G (p.Gln271Glu) | |
| 19 | g.7184557G>T | CA403670368 | INSR | c.733C>A (p.Gln245Lys) n.708C>A c.811C>A (p.Gln271Lys) | |
| 19 | g.7184558A>C | CA505400506 | INSR | c.732T>G (p.Ser244=) n.707T>G c.810T>G (p.Ser270=) | |
| 19 | g.7184558A>G | CA505400507 | INSR | c.732T>C (p.Ser244=) n.707T>C c.810T>C (p.Ser270=) | |
| 19 | g.7184558A>T | CA505400505 | INSR | c.732T>A (p.Ser244=) n.707T>A c.810T>A (p.Ser270=) | |
| 19 | g.7184559G>A | CA403670375 | INSR | c.731C>T (p.Ser244Phe) n.706C>T c.809C>T (p.Ser270Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7184559G>C | CA403670373 | INSR | c.731C>G (p.Ser244Cys) n.706C>G c.809C>G (p.Ser270Cys) | |
| 19 | g.7184559G= | CA2320796334 | INSR | c.731C= (p.Ser244=) n.706C= c.809C= (p.Ser270=) | |
| 19 | g.7184559G>T | CA403670371 | INSR | c.731C>A (p.Ser244Tyr) n.706C>A c.809C>A (p.Ser270Tyr) | |
| 19 | g.7184560A>C | CA403670379 | INSR | c.730T>G (p.Ser244Ala) n.705T>G c.808T>G (p.Ser270Ala) | |
| 19 | g.7184560A>G | CA403670383 | INSR | c.730T>C (p.Ser244Pro) n.705T>C c.808T>C (p.Ser270Pro) | gnomAD v4 |
| 19 | g.7184560A>T | CA403670381 | INSR | c.730T>A (p.Ser244Thr) n.705T>A c.808T>A (p.Ser270Thr) | |
| 19 | g.7184561A>C | CA403670386 | INSR | c.729T>G (p.Cys243Trp) n.704T>G c.807T>G (p.Cys269Trp) | |
| 19 | g.7184561A>G | CA505400508 | INSR | c.729T>C (p.Cys243=) n.704T>C c.807T>C (p.Cys269=) | |
| 19 | g.7184561A>T | CA403670388 | INSR | c.729T>A (p.Cys243Ter) n.704T>A c.807T>A (p.Cys269Ter) | |
| 19 | g.7184562C>A | CA403670391 | INSR | c.728G>T (p.Cys243Phe) n.703G>T c.806G>T (p.Cys269Phe) | |
| 19 | g.7184562C= | CA2320796335 | INSR | c.728G= (p.Cys243=) n.703G= c.806G= (p.Cys269=) | |
| 19 | g.7184562C>G | CA403670393 | INSR | c.728G>C (p.Cys243Ser) n.703G>C c.806G>C (p.Cys269Ser) | |
| 19 | g.7184562C>T | CA304866660 | INSR | c.728G>A (p.Cys243Tyr) n.703G>A c.806G>A (p.Cys269Tyr) | ClinVar dbSNP |
| 19 | g.7184563A= | CA2320796336 | INSR | c.727T= (p.Cys243=) n.702T= c.805T= (p.Cys269=) | |
| 19 | g.7184563A>C | CA403670397 | INSR | c.727T>G (p.Cys243Gly) n.702T>G c.805T>G (p.Cys269Gly) | dbSNP |
| 19 | g.7184563A>G | CA403670399 | INSR | c.727T>C (p.Cys243Arg) n.702T>C c.805T>C (p.Cys269Arg) | |
| 19 | g.7184563A>T | CA403670401 | INSR | c.727T>A (p.Cys243Ser) n.702T>A c.805T>A (p.Cys269Ser) | |
| 19 | g.7184564G>A | CA505400509 | INSR | c.726C>T (p.Asn242=) n.701C>T c.804C>T (p.Asn268=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184564G>C | CA403670404 | INSR | c.726C>G (p.Asn242Lys) n.701C>G c.804C>G (p.Asn268Lys) | |
| 19 | g.7184564G= | CA2320796337 | INSR | c.726C= (p.Asn242=) n.701C= c.804C= (p.Asn268=) | |
| 19 | g.7184564G>T | CA403670406 | INSR | c.726C>A (p.Asn242Lys) n.701C>A c.804C>A (p.Asn268Lys) | |
| 19 | g.7184565T>A | CA403670409 | INSR | c.725A>T (p.Asn242Ile) n.700A>T c.803A>T (p.Asn268Ile) | |
| 19 | g.7184565T>C | CA403670411 | INSR | c.725A>G (p.Asn242Ser) n.700A>G c.803A>G (p.Asn268Ser) | |
| 19 | g.7184565T>G | CA403670413 | INSR | c.725A>C (p.Asn242Thr) n.700A>C c.803A>C (p.Asn268Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7184565T= | CA2320796338 | INSR | c.725A= (p.Asn242=) n.700A= c.803A= (p.Asn268=) | |
| 19 | g.7184566T>A | CA403670415 | INSR | c.724A>T (p.Asn242Tyr) n.699A>T c.802A>T (p.Asn268Tyr) | |
| 19 | g.7184566T>C | CA403670420 | INSR | c.724A>G (p.Asn242Asp) n.699A>G c.802A>G (p.Asn268Asp) | |
| 19 | g.7184566T>G | CA403670417 | INSR | c.724A>C (p.Asn242His) n.699A>C c.802A>C (p.Asn268His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7184566T= | CA2320796339 | INSR | c.724A= (p.Asn242=) n.699A= c.802A= (p.Asn268=) | |
| 19 | g.7184567G>A | CA505400510 | INSR | c.723C>T (p.Gly241=) n.698C>T c.801C>T (p.Gly267=) | gnomAD v4 |
| 19 | g.7184567G>C | CA505400511 | INSR | c.723C>G (p.Gly241=) n.698C>G c.801C>G (p.Gly267=) | |
| 19 | g.7184567G>T | CA505400512 | INSR | c.723C>A (p.Gly241=) n.698C>A c.801C>A (p.Gly267=) | |
| 19 | g.7184568C>A | CA403670423 | INSR | c.722G>T (p.Gly241Val) n.697G>T c.800G>T (p.Gly267Val) | |
| 19 | g.7184568C>G | CA403670425 | INSR | c.722G>C (p.Gly241Ala) n.697G>C c.800G>C (p.Gly267Ala) | |
| 19 | g.7184568C>T | CA403670433 | INSR | c.722G>A (p.Gly241Asp) n.697G>A c.800G>A (p.Gly267Asp) | |
| 19 | g.7184569C>A | CA403670436 | INSR | c.721G>T (p.Gly241Cys) n.696G>T c.799G>T (p.Gly267Cys) | |
| 19 | g.7184569C>G | CA403670438 | INSR | c.721G>C (p.Gly241Arg) n.696G>C c.799G>C (p.Gly267Arg) | |
| 19 | g.7184569C>T | CA403670440 | INSR | c.721G>A (p.Gly241Ser) n.696G>A c.799G>A (p.Gly267Ser) | |
| 19 | g.7184570C>A | CA505400513 | INSR | c.720G>T (p.Leu240=) n.695G>T c.798G>T (p.Leu266=) | |
| 19 | g.7184570C>G | CA505400514 | INSR | c.720G>C (p.Leu240=) n.695G>C c.798G>C (p.Leu266=) | |
| 19 | g.7184570C>T | CA505400515 | INSR | c.720G>A (p.Leu240=) n.695G>A c.798G>A (p.Leu266=) | |
| 19 | g.7184571A= | CA2320796340 | INSR | c.719T= (p.Leu240=) n.694T= c.797T= (p.Leu266=) | |
| 19 | g.7184571A>C | CA403670444 | INSR | c.719T>G (p.Leu240Arg) n.694T>G c.797T>G (p.Leu266Arg) | |
| 19 | g.7184571A>G | CA403670446 | INSR | c.719T>C (p.Leu240Pro) n.694T>C c.797T>C (p.Leu266Pro) | dbSNP |
| 19 | g.7184571A>T | CA403670448 | INSR | c.719T>A (p.Leu240Gln) n.694T>A c.797T>A (p.Leu266Gln) | |
| 19 | g.7184572G>A | CA505400516 | INSR | c.718C>T (p.Leu240=) n.693C>T c.796C>T (p.Leu266=) | |
| 19 | g.7184572G>C | CA403670450 | INSR | c.718C>G (p.Leu240Val) n.693C>G c.796C>G (p.Leu266Val) | |
| 19 | g.7184572G>T | CA403670451 | INSR | c.718C>A (p.Leu240Met) n.693C>A c.796C>A (p.Leu266Met) | |
| 19 | g.7184573G>A | CA505400517 | INSR | c.717C>T (p.Cys239=) n.692C>T c.795C>T (p.Cys265=) | |
| 19 | g.7184573G>C | CA403670454 | INSR | c.717C>G (p.Cys239Trp) n.692C>G c.795C>G (p.Cys265Trp) | |
| 19 | g.7184573G>T | CA403670455 | INSR | c.717C>A (p.Cys239Ter) n.692C>A c.795C>A (p.Cys265Ter) | |
| 19 | g.7184574C>A | CA403670459 | INSR | c.716G>T (p.Cys239Phe) n.691G>T c.794G>T (p.Cys265Phe) | |
| 19 | g.7184574C>G | CA403670460 | INSR | c.716G>C (p.Cys239Ser) n.691G>C c.794G>C (p.Cys265Ser) | |
| 19 | g.7184574C>T | CA403670462 | INSR | c.716G>A (p.Cys239Tyr) n.691G>A c.794G>A (p.Cys265Tyr) | |
| 19 | g.7184575A>C | CA403670464 | INSR | c.715T>G (p.Cys239Gly) n.690T>G c.793T>G (p.Cys265Gly) | |
| 19 | g.7184575A>G | CA403670467 | INSR | c.715T>C (p.Cys239Arg) n.690T>C c.793T>C (p.Cys265Arg) | |
| 19 | g.7184575A>T | CA403670469 | INSR | c.715T>A (p.Cys239Ser) n.690T>A c.793T>A (p.Cys265Ser) | |
| 19 | g.7184575_7184576delinsAC | CA2320796341 | INSR | c.714_715delinsGT (p.Glu238=) n.689_690delinsGT c.792_793delinsGT (p.Glu264=) | |
| 19 | g.7184576del | CA993124683 | INSR | c.714del (p.Glu238AspfsTer?) n.689del c.792del (p.Glu264AspfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184576C>A | CA403670474 | INSR | c.714G>T (p.Glu238Asp) n.689G>T c.792G>T (p.Glu264Asp) | |
| 19 | g.7184576C>G | CA403670472 | INSR | c.714G>C (p.Glu238Asp) n.689G>C c.792G>C (p.Glu264Asp) | |
| 19 | g.7184576C>T | CA505400518 | INSR | c.714G>A (p.Glu238=) n.689G>A c.792G>A (p.Glu264=) | |
| 19 | g.7184577T>A | CA403670477 | INSR | c.713A>T (p.Glu238Val) n.688A>T c.791A>T (p.Glu264Val) | |
| 19 | g.7184577T>C | CA403670479 | INSR | c.713A>G (p.Glu238Gly) n.688A>G c.791A>G (p.Glu264Gly) | |
| 19 | g.7184577T>G | CA403670481 | INSR | c.713A>C (p.Glu238Ala) n.688A>C c.791A>C (p.Glu264Ala) | |
| 19 | g.7184578C>A | CA403670484 | INSR | c.712G>T (p.Glu238Ter) n.687G>T c.790G>T (p.Glu264Ter) | |
| 19 | g.7184578C= | CA2320796342 | INSR | c.712G= (p.Glu238=) n.687G= c.790G= (p.Glu264=) | |
| 19 | g.7184578C>G | CA403670486 | INSR | c.712G>C (p.Glu238Gln) n.687G>C c.790G>C (p.Glu264Gln) | |
| 19 | g.7184578C>T | CA9136027 | INSR | c.712G>A (p.Glu238Lys) n.687G>A c.790G>A (p.Glu264Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184579G>A | CA9136028 | INSR | c.711C>T (p.Ser237=) n.686C>T c.789C>T (p.Ser263=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184579G>C | CA403670492 | INSR | c.711C>G (p.Ser237Arg) n.686C>G c.789C>G (p.Ser263Arg) | |
| 19 | g.7184579G= | CA2320796343 | INSR | c.711C= (p.Ser237=) n.686C= c.789C= (p.Ser263=) | |
| 19 | g.7184579G>T | CA304866673 | INSR | c.711C>A (p.Ser237Arg) n.686C>A c.789C>A (p.Ser263Arg) | dbSNP |
| 19 | g.7184580C>A | CA403670493 | INSR | c.710G>T (p.Ser237Ile) n.685G>T c.788G>T (p.Ser263Ile) | |
| 19 | g.7184580C= | CA2320796344 | INSR | c.710G= (p.Ser237=) n.685G= c.788G= (p.Ser263=) | |
| 19 | g.7184580C>G | CA403670495 | INSR | c.710G>C (p.Ser237Thr) n.685G>C c.788G>C (p.Ser263Thr) | |
| 19 | g.7184580C>T | CA403670497 | INSR | c.710G>A (p.Ser237Asn) n.685G>A c.788G>A (p.Ser263Asn) | dbSNP |
| 19 | g.7184581T>A | CA403670502 | INSR | c.709A>T (p.Ser237Cys) n.684A>T c.787A>T (p.Ser263Cys) | |
| 19 | g.7184581T>C | CA403670504 | INSR | c.709A>G (p.Ser237Gly) n.684A>G c.787A>G (p.Ser263Gly) | |
| 19 | g.7184581T>G | CA403670507 | INSR | c.709A>C (p.Ser237Arg) n.684A>C c.787A>C (p.Ser263Arg) | |
| 19 | g.7184582G>A | CA505400519 | INSR | c.708C>T (p.His236=) n.683C>T c.786C>T (p.His262=) | gnomAD v4 |
| 19 | g.7184582G>C | CA403670509 | INSR | c.708C>G (p.His236Gln) n.683C>G c.786C>G (p.His262Gln) | |
| 19 | g.7184582G>T | CA403670511 | INSR | c.708C>A (p.His236Gln) n.683C>A c.786C>A (p.His262Gln) | |
| 19 | g.7184583T>A | CA403670514 | INSR | c.707A>T (p.His236Leu) n.682A>T c.785A>T (p.His262Leu) | |
| 19 | g.7184583T>C | CA124236 | INSR | c.707A>G (p.His236Arg) n.682A>G c.785A>G (p.His262Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184583T>G | CA403670518 | INSR | c.707A>C (p.His236Pro) n.682A>C c.785A>C (p.His262Pro) | |
| 19 | g.7184583T= | CA2320796345 | INSR | c.707A= (p.His236=) n.682A= c.785A= (p.His262=) | |
| 19 | g.7184584G>A | CA403670523 | INSR | c.706C>T (p.His236Tyr) n.681C>T c.784C>T (p.His262Tyr) | |
| 19 | g.7184584G>C | CA403670524 | INSR | c.706C>G (p.His236Asp) n.681C>G c.784C>G (p.His262Asp) | |
| 19 | g.7184584G>T | CA403670521 | INSR | c.706C>A (p.His236Asn) n.681C>A c.784C>A (p.His262Asn) | |
| 19 | g.7184585G>A | CA9136029 | INSR | c.705C>T (p.Cys235=) n.680C>T c.783C>T (p.Cys261=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184585G>C | CA403670528 | INSR | c.705C>G (p.Cys235Trp) n.680C>G c.783C>G (p.Cys261Trp) | |
| 19 | g.7184585G= | CA2320796346 | INSR | c.705C= (p.Cys235=) n.680C= c.783C= (p.Cys261=) | |
| 19 | g.7184585G>T | CA403670529 | INSR | c.705C>A (p.Cys235Ter) n.680C>A c.783C>A (p.Cys261Ter) | gnomAD v4 |
| 19 | g.7184586C>A | CA403670533 | INSR | c.704G>T (p.Cys235Phe) n.679G>T c.782G>T (p.Cys261Phe) | ClinVar gnomAD v4 |
| 19 | g.7184586C>G | CA403670535 | INSR | c.704G>C (p.Cys235Ser) n.679G>C c.782G>C (p.Cys261Ser) | |
| 19 | g.7184586C>T | CA403670537 | INSR | c.704G>A (p.Cys235Tyr) n.679G>A c.782G>A (p.Cys261Tyr) | |
| 19 | g.7184587A>C | CA403670541 | INSR | c.703T>G (p.Cys235Gly) n.678T>G c.781T>G (p.Cys261Gly) | |
| 19 | g.7184587A>G | CA403670543 | INSR | c.703T>C (p.Cys235Arg) n.678T>C c.781T>C (p.Cys261Arg) | |
| 19 | g.7184587A>T | CA403670545 | INSR | c.703T>A (p.Cys235Ser) n.678T>A c.781T>A (p.Cys261Ser) | |
| 19 | g.7184588A>C | CA403670547 | INSR | c.702T>G (p.Cys234Trp) n.677T>G c.780T>G (p.Cys260Trp) | gnomAD v4 |
| 19 | g.7184588A>G | CA505400520 | INSR | c.702T>C (p.Cys234=) n.677T>C c.780T>C (p.Cys260=) | |
| 19 | g.7184588A>T | CA403670549 | INSR | c.702T>A (p.Cys234Ter) n.677T>A c.780T>A (p.Cys260Ter) | |
| 19 | g.7184589C>A | CA403670552 | INSR | c.701G>T (p.Cys234Phe) n.676G>T c.779G>T (p.Cys260Phe) | |
| 19 | g.7184589C>G | CA403670553 | INSR | c.701G>C (p.Cys234Ser) n.676G>C c.779G>C (p.Cys260Ser) | |
| 19 | g.7184589C>T | CA403670555 | INSR | c.701G>A (p.Cys234Tyr) n.676G>A c.779G>A (p.Cys260Tyr) | |
| 19 | g.7184590A= | CA2320796347 | INSR | c.700T= (p.Cys234=) n.675T= c.778T= (p.Cys260=) | |
| 19 | g.7184590A>C | CA403670558 | INSR | c.700T>G (p.Cys234Gly) n.675T>G c.778T>G (p.Cys260Gly) | |
| 19 | g.7184590A>G | CA403670561 | INSR | c.700T>C (p.Cys234Arg) n.675T>C c.778T>C (p.Cys260Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7184590A>T | CA403670564 | INSR | c.700T>A (p.Cys234Ser) n.675T>A c.778T>A (p.Cys260Ser) | |
| 19 | g.7184591G>A | CA505400522 | INSR | c.699C>T (p.Leu233=) n.674C>T c.777C>T (p.Leu259=) | gnomAD v4 |
| 19 | g.7184591G>C | CA505400523 | INSR | c.699C>G (p.Leu233=) n.674C>G c.777C>G (p.Leu259=) | |
| 19 | g.7184591G>T | CA505400521 | INSR | c.699C>A (p.Leu233=) n.674C>A c.777C>A (p.Leu259=) | |
| 19 | g.7184592A= | CA2320796348 | INSR | c.698T= (p.Leu233=) n.673T= c.776T= (p.Leu259=) | |
| 19 | g.7184592A>C | CA403670567 | INSR | c.698T>G (p.Leu233Arg) n.673T>G c.776T>G (p.Leu259Arg) | ClinVar dbSNP gnomAD v4 |
| 19 | g.7184592A>G | CA304866694 | INSR | c.698T>C (p.Leu233Pro) n.673T>C c.776T>C (p.Leu259Pro) | dbSNP gnomAD v4 |
| 19 | g.7184592A>T | CA403670569 | INSR | c.698T>A (p.Leu233His) n.673T>A c.776T>A (p.Leu259His) | |
| 19 | g.7184593G>A | CA403670572 | INSR | c.697C>T (p.Leu233Phe) n.672C>T c.775C>T (p.Leu259Phe) | |
| 19 | g.7184593G>C | CA403670573 | INSR | c.697C>G (p.Leu233Val) n.672C>G c.775C>G (p.Leu259Val) | |
| 19 | g.7184593G>T | CA403670575 | INSR | c.697C>A (p.Leu233Ile) n.672C>A c.775C>A (p.Leu259Ile) | |
| 19 | g.7184594G>A | CA9136030 | INSR | c.696C>T (p.Gly232=) n.671C>T c.774C>T (p.Gly258=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184594G>C | CA505400524 | INSR | c.696C>G (p.Gly232=) n.671C>G c.774C>G (p.Gly258=) | |
| 19 | g.7184594G= | CA2320796349 | INSR | c.696C= (p.Gly232=) n.671C= c.774C= (p.Gly258=) | |
| 19 | g.7184594G>T | CA505400525 | INSR | c.696C>A (p.Gly232=) n.671C>A c.774C>A (p.Gly258=) | |
| 19 | g.7184595C>A | CA403670579 | INSR | c.695G>T (p.Gly232Val) n.670G>T c.773G>T (p.Gly258Val) | |
| 19 | g.7184595C= | CA2320796350 | INSR | c.695G= (p.Gly232=) n.670G= c.773G= (p.Gly258=) | |
| 19 | g.7184595C>G | CA403670580 | INSR | c.695G>C (p.Gly232Ala) n.670G>C c.773G>C (p.Gly258Ala) | |
| 19 | g.7184595C>T | CA403670581 | INSR | c.695G>A (p.Gly232Asp) n.670G>A c.773G>A (p.Gly258Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7184596C>A | CA403670583 | INSR | c.694G>T (p.Gly232Cys) n.669G>T c.772G>T (p.Gly258Cys) | |
| 19 | g.7184596C>G | CA403670585 | INSR | c.694G>C (p.Gly232Arg) n.669G>C c.772G>C (p.Gly258Arg) | |
| 19 | g.7184596C>T | CA403670587 | INSR | c.694G>A (p.Gly232Ser) n.669G>A c.772G>A (p.Gly258Ser) | |
| 19 | g.7184597T>A | CA403670589 | INSR | c.693A>T (p.Glu231Asp) n.668A>T c.771A>T (p.Glu257Asp) | |
| 19 | g.7184597T>C | CA505400526 | INSR | c.693A>G (p.Glu231=) n.668A>G c.771A>G (p.Glu257=) | |
| 19 | g.7184597T>G | CA403670591 | INSR | c.693A>C (p.Glu231Asp) n.668A>C c.771A>C (p.Glu257Asp) | |
| 19 | g.7184598T>A | CA403670595 | INSR | c.692A>T (p.Glu231Val) n.667A>T c.770A>T (p.Glu257Val) | |
| 19 | g.7184598T>C | CA403670598 | INSR | c.692A>G (p.Glu231Gly) n.667A>G c.770A>G (p.Glu257Gly) | |
| 19 | g.7184598T>G | CA403670597 | INSR | c.692A>C (p.Glu231Ala) n.667A>C c.770A>C (p.Glu257Ala) | |
| 19 | g.7184599C>A | CA403670599 | INSR | c.691G>T (p.Glu231Ter) n.666G>T c.769G>T (p.Glu257Ter) | |
| 19 | g.7184599C= | CA2320796351 | INSR | c.691G= (p.Glu231=) n.666G= c.769G= (p.Glu257=) | |
| 19 | g.7184599C>G | CA403670600 | INSR | c.691G>C (p.Glu231Gln) n.666G>C c.769G>C (p.Glu257Gln) | |
| 19 | g.7184599C>T | CA403670602 | INSR | c.691G>A (p.Glu231Lys) n.666G>A c.769G>A (p.Glu257Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7184600G>A | CA9136031 | INSR | c.690C>T (p.Ala230=) n.665C>T c.768C>T (p.Ala256=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184600G>C | CA505400527 | INSR | c.690C>G (p.Ala230=) n.665C>G c.768C>G (p.Ala256=) | |
| 19 | g.7184600G= | CA2320796352 | INSR | c.690C= (p.Ala230=) n.665C= c.768C= (p.Ala256=) | |
| 19 | g.7184600G>T | CA505400528 | INSR | c.690C>A (p.Ala230=) n.665C>A c.768C>A (p.Ala256=) | |
| 19 | g.7184601G>A | CA403670606 | INSR | c.689C>T (p.Ala230Val) n.664C>T c.767C>T (p.Ala256Val) | |
| 19 | g.7184601G>C | CA403670609 | INSR | c.689C>G (p.Ala230Gly) n.664C>G c.767C>G (p.Ala256Gly) | |
| 19 | g.7184601G>T | CA403670611 | INSR | c.689C>A (p.Ala230Asp) n.664C>A c.767C>A (p.Ala256Asp) | |
| 19 | g.7184602C>A | CA403670614 | INSR | c.688G>T (p.Ala230Ser) n.663G>T c.766G>T (p.Ala256Ser) | dbSNP gnomAD v2 |
| 19 | g.7184602C= | CA2320796353 | INSR | c.688G= (p.Ala230=) n.663G= c.766G= (p.Ala256=) | |
| 19 | g.7184602C>G | CA403670616 | INSR | c.688G>C (p.Ala230Pro) n.663G>C c.766G>C (p.Ala256Pro) | |
| 19 | g.7184602C>T | CA9136032 | INSR | c.688G>A (p.Ala230Thr) n.663G>A c.766G>A (p.Ala256Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7184603G>A | CA205692 | INSR | c.687C>T (p.Thr229=) n.662C>T c.765C>T (p.Thr255=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184603G>C | CA9136033 | INSR | c.687C>G (p.Thr229=) n.662C>G c.765C>G (p.Thr255=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184603G= | CA2320796354 | INSR | c.687C= (p.Thr229=) n.662C= c.765C= (p.Thr255=) | |
| 19 | g.7184603G>T | CA505400529 | INSR | c.687C>A (p.Thr229=) n.662C>A c.765C>A (p.Thr255=) | COSMIC COSMIC |
| 19 | g.7184604G>A | CA403670629 | INSR | c.686C>T (p.Thr229Ile) n.661C>T c.764C>T (p.Thr255Ile) | gnomAD v4 |
| 19 | g.7184604G>C | CA403670628 | INSR | c.686C>G (p.Thr229Ser) n.661C>G c.764C>G (p.Thr255Ser) | |
| 19 | g.7184604G>T | CA403670625 | INSR | c.686C>A (p.Thr229Asn) n.661C>A c.764C>A (p.Thr255Asn) | |
| 19 | g.7184605T>A | CA403670633 | INSR | c.685A>T (p.Thr229Ser) n.660A>T c.763A>T (p.Thr255Ser) | |
| 19 | g.7184605T>C | CA403670634 | INSR | c.685A>G (p.Thr229Ala) n.660A>G c.763A>G (p.Thr255Ala) | gnomAD v4 |
| 19 | g.7184605T>G | CA403670635 | INSR | c.685A>C (p.Thr229Pro) n.660A>C c.763A>C (p.Thr255Pro) | dbSNP |
| 19 | g.7184605T= | CA2320795923 | INSR | c.685A= (p.Thr229=) n.660A= c.763A= (p.Thr255=) | |
| 19 | g.7184606G>A | CA505400530 | INSR | c.684C>T (p.Cys228=) n.659C>T c.762C>T (p.Cys254=) | dbSNP gnomAD v2 |
| 19 | g.7184606G>C | CA403670636 | INSR | c.684C>G (p.Cys228Trp) n.659C>G c.762C>G (p.Cys254Trp) | |
| 19 | g.7184606G= | CA2320795924 | INSR | c.684C= (p.Cys228=) n.659C= c.762C= (p.Cys254=) | |
| 19 | g.7184606G>T | CA403670637 | INSR | c.684C>A (p.Cys228Ter) n.659C>A c.762C>A (p.Cys254Ter) | |
| 19 | g.7184607C>A | CA403670638 | INSR | c.683G>T (p.Cys228Phe) n.658G>T c.761G>T (p.Cys254Phe) | |
| 19 | g.7184607C>G | CA403670639 | INSR | c.683G>C (p.Cys228Ser) n.658G>C c.761G>C (p.Cys254Ser) | |
| 19 | g.7184607C>T | CA403670640 | INSR | c.683G>A (p.Cys228Tyr) n.658G>A c.761G>A (p.Cys254Tyr) | gnomAD v4 |
| 19 | g.7184608A>C | CA403670641 | INSR | c.682T>G (p.Cys228Gly) n.657T>G c.760T>G (p.Cys254Gly) | |
| 19 | g.7184608A>G | CA403670642 | INSR | c.682T>C (p.Cys228Arg) n.657T>C c.760T>C (p.Cys254Arg) | COSMIC |
| 19 | g.7184608A>T | CA403670643 | INSR | c.682T>A (p.Cys228Ser) n.657T>A c.760T>A (p.Cys254Ser) | |
| 19 | g.7184609G>A | CA505400531 | INSR | c.681C>T (p.Gly227=) n.656C>T c.759C>T (p.Gly253=) | |
| 19 | g.7184609G>C | CA304866716 | INSR | c.681C>G (p.Gly227=) n.656C>G c.759C>G (p.Gly253=) | dbSNP |
| 19 | g.7184609G= | CA2320795925 | INSR | c.681C= (p.Gly227=) n.656C= c.759C= (p.Gly253=) | |
| 19 | g.7184609G>T | CA505400532 | INSR | c.681C>A (p.Gly227=) n.656C>A c.759C>A (p.Gly253=) | |
| 19 | g.7184610C>A | CA403670644 | INSR | c.680G>T (p.Gly227Val) n.655G>T c.758G>T (p.Gly253Val) | |
| 19 | g.7184610C>G | CA403670646 | INSR | c.680G>C (p.Gly227Ala) n.655G>C c.758G>C (p.Gly253Ala) | |
| 19 | g.7184610C>T | CA403670645 | INSR | c.680G>A (p.Gly227Asp) n.655G>A c.758G>A (p.Gly253Asp) | |
| 19 | g.7184611C>A | CA403670647 | INSR | c.679G>T (p.Gly227Cys) n.654G>T c.757G>T (p.Gly253Cys) | |
| 19 | g.7184611C= | CA2320795926 | INSR | c.679G= (p.Gly227=) n.654G= c.757G= (p.Gly253=) | |
| 19 | g.7184611C>G | CA403670649 | INSR | c.679G>C (p.Gly227Arg) n.654G>C c.757G>C (p.Gly253Arg) | |
| 19 | g.7184611C>T | CA403670648 | INSR | c.679G>A (p.Gly227Ser) n.654G>A c.757G>A (p.Gly253Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184612G>A | CA505400533 | INSR | c.678C>T (p.His226=) n.653C>T c.756C>T (p.His252=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184612G>C | CA9136034 | INSR | c.678C>G (p.His226Gln) n.653C>G c.756C>G (p.His252Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184612G= | CA2320795927 | INSR | c.678C= (p.His226=) n.653C= c.756C= (p.His252=) | |
| 19 | g.7184612G>T | CA403670650 | INSR | c.678C>A (p.His226Gln) n.653C>A c.756C>A (p.His252Gln) | gnomAD v4 |
| 19 | g.7184613T>A | CA403670651 | INSR | c.677A>T (p.His226Leu) n.652A>T c.755A>T (p.His252Leu) | |
| 19 | g.7184613T>C | CA403670652 | INSR | c.677A>G (p.His226Arg) n.652A>G c.755A>G (p.His252Arg) | |
| 19 | g.7184613T>G | CA403670653 | INSR | c.677A>C (p.His226Pro) n.652A>C c.755A>C (p.His252Pro) | |
| 19 | g.7184614G>A | CA403670654 | INSR | c.676C>T (p.His226Tyr) n.651C>T c.754C>T (p.His252Tyr) | |
| 19 | g.7184614G>C | CA403670655 | INSR | c.676C>G (p.His226Asp) n.651C>G c.754C>G (p.His252Asp) | |
| 19 | g.7184614G>T | CA403670656 | INSR | c.676C>A (p.His226Asn) n.651C>A c.754C>A (p.His252Asn) | |
| 19 | g.7184615T>A | CA505400534 | INSR | c.675A>T (p.Ser225=) n.650A>T c.753A>T (p.Ser251=) | |
| 19 | g.7184615T>C | CA505400535 | INSR | c.675A>G (p.Ser225=) n.650A>G c.753A>G (p.Ser251=) | |
| 19 | g.7184615T>G | CA505400536 | INSR | c.675A>C (p.Ser225=) n.650A>C c.753A>C (p.Ser251=) | |
| 19 | g.7184616G>A | CA403670658 | INSR | c.674C>T (p.Ser225Leu) n.649C>T c.752C>T (p.Ser251Leu) | |
| 19 | g.7184616G>C | CA403670660 | INSR | c.674C>G (p.Ser225Ter) n.649C>G c.752C>G (p.Ser251Ter) | |
| 19 | g.7184616G>T | CA403670662 | INSR | c.674C>A (p.Ser225Ter) n.649C>A c.752C>A (p.Ser251Ter) | gnomAD v4 |
| 19 | g.7184617A>C | CA403670669 | INSR | c.673T>G (p.Ser225Ala) n.648T>G c.751T>G (p.Ser251Ala) | |
| 19 | g.7184617A>G | CA403670665 | INSR | c.673T>C (p.Ser225Pro) n.648T>C c.751T>C (p.Ser251Pro) | |
| 19 | g.7184617A>T | CA403670667 | INSR | c.673T>A (p.Ser225Thr) n.648T>A c.751T>A (p.Ser251Thr) | |
| 19 | g.7184618C>A | CA403670672 | INSR | c.672G>T (p.Lys224Asn) n.647G>T c.750G>T (p.Lys250Asn) | |
| 19 | g.7184618C>G | CA403670674 | INSR | c.672G>C (p.Lys224Asn) n.647G>C c.750G>C (p.Lys250Asn) | |
| 19 | g.7184618C>T | CA505400537 | INSR | c.672G>A (p.Lys224=) n.647G>A c.750G>A (p.Lys250=) | |
| 19 | g.7184619T>A | CA403670678 | INSR | c.671A>T (p.Lys224Met) n.646A>T c.749A>T (p.Lys250Met) | |
| 19 | g.7184619T>C | CA403670680 | INSR | c.671A>G (p.Lys224Arg) n.646A>G c.749A>G (p.Lys250Arg) | |
| 19 | g.7184619T>G | CA403670683 | INSR | c.671A>C (p.Lys224Thr) n.646A>C c.749A>C (p.Lys250Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7184619T= | CA2320795928 | INSR | c.671A= (p.Lys224=) n.646A= c.749A= (p.Lys250=) | |
| 19 | g.7184620T>A | CA403670685 | INSR | c.670A>T (p.Lys224Ter) n.645A>T c.748A>T (p.Lys250Ter) | |
| 19 | g.7184620T>C | CA403670688 | INSR | c.670A>G (p.Lys224Glu) n.645A>G c.748A>G (p.Lys250Glu) | gnomAD v3 gnomAD v4 |
| 19 | g.7184620T>G | CA403670690 | INSR | c.670A>C (p.Lys224Gln) n.645A>C c.748A>C (p.Lys250Gln) | |
| 19 | g.7184621A>C | CA403670693 | INSR | c.669T>G (p.Cys223Trp) n.644T>G c.747T>G (p.Cys249Trp) | |
| 19 | g.7184621A>G | CA505400538 | INSR | c.669T>C (p.Cys223=) n.644T>C c.747T>C (p.Cys249=) | |
| 19 | g.7184621A>T | CA403670694 | INSR | c.669T>A (p.Cys223Ter) n.644T>A c.747T>A (p.Cys249Ter) | |
| 19 | g.7184622C>A | CA403670701 | INSR | c.668G>T (p.Cys223Phe) n.643G>T c.746G>T (p.Cys249Phe) | |
| 19 | g.7184622C>G | CA403670703 | INSR | c.668G>C (p.Cys223Ser) n.643G>C c.746G>C (p.Cys249Ser) | |
| 19 | g.7184622C>T | CA403670698 | INSR | c.668G>A (p.Cys223Tyr) n.643G>A c.746G>A (p.Cys249Tyr) | gnomAD v4 |
| 19 | g.7184623A>C | CA403670707 | INSR | c.667T>G (p.Cys223Gly) n.642T>G c.745T>G (p.Cys249Gly) | |
| 19 | g.7184623A>G | CA403670709 | INSR | c.667T>C (p.Cys223Arg) n.642T>C c.745T>C (p.Cys249Arg) | gnomAD v4 |
| 19 | g.7184623A>T | CA403670711 | INSR | c.667T>A (p.Cys223Ser) n.642T>A c.745T>A (p.Cys249Ser) | |
| 19 | g.7184624G>A | CA304866725 | INSR | c.666C>T (p.Ile222=) n.641C>T c.744C>T (p.Ile248=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184624G>C | CA403670714 | INSR | c.666C>G (p.Ile222Met) n.641C>G c.744C>G (p.Ile248Met) | |
| 19 | g.7184624G= | CA2320795929 | INSR | c.666C= (p.Ile222=) n.641C= c.744C= (p.Ile248=) | |
| 19 | g.7184624G>T | CA505400539 | INSR | c.666C>A (p.Ile222=) n.641C>A c.744C>A (p.Ile248=) | |
| 19 | g.7184625A= | CA2320795930 | INSR | c.665T= (p.Ile222=) n.640T= c.743T= (p.Ile248=) | |
| 19 | g.7184625A>C | CA403670720 | INSR | c.665T>G (p.Ile222Ser) n.640T>G c.743T>G (p.Ile248Ser) | |
| 19 | g.7184625A>G | CA9136035 | INSR | c.665T>C (p.Ile222Thr) n.640T>C c.743T>C (p.Ile248Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184625A>T | CA403670717 | INSR | c.665T>A (p.Ile222Asn) n.640T>A c.743T>A (p.Ile248Asn) | |
| 19 | g.7184626T>A | CA403670724 | INSR | c.664A>T (p.Ile222Phe) n.639A>T c.742A>T (p.Ile248Phe) | |
| 19 | g.7184626T>C | CA403670725 | INSR | c.664A>G (p.Ile222Val) n.639A>G c.742A>G (p.Ile248Val) | |
| 19 | g.7184626T>G | CA403670727 | INSR | c.664A>C (p.Ile222Leu) n.639A>C c.742A>C (p.Ile248Leu) | |
| 19 | g.7184627G>A | CA505400542 | INSR | c.663C>T (p.Thr221=) n.638C>T c.741C>T (p.Thr247=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7184627G>C | CA505400541 | INSR | c.663C>G (p.Thr221=) n.638C>G c.741C>G (p.Thr247=) | |
| 19 | g.7184627G= | CA2320795931 | INSR | c.663C= (p.Thr221=) n.638C= c.741C= (p.Thr247=) | |
| 19 | g.7184627G>T | CA505400540 | INSR | c.663C>A (p.Thr221=) n.638C>A c.741C>A (p.Thr247=) | gnomAD v4 |
| 19 | g.7184628G>A | CA403670730 | INSR | c.662C>T (p.Thr221Ile) n.637C>T c.740C>T (p.Thr247Ile) | |
| 19 | g.7184628G>C | CA403670733 | INSR | c.662C>G (p.Thr221Ser) n.637C>G c.740C>G (p.Thr247Ser) | |
| 19 | g.7184628G>T | CA403670735 | INSR | c.662C>A (p.Thr221Asn) n.637C>A c.740C>A (p.Thr247Asn) | |
| 19 | g.7184629T>A | CA403670738 | INSR | c.661A>T (p.Thr221Ser) n.636A>T c.739A>T (p.Thr247Ser) | |
| 19 | g.7184629T>C | CA403670742 | INSR | c.661A>G (p.Thr221Ala) n.636A>G c.739A>G (p.Thr247Ala) | |
| 19 | g.7184629T>G | CA403670740 | INSR | c.661A>C (p.Thr221Pro) n.636A>C c.739A>C (p.Thr247Pro) | gnomAD v4 |
| 19 | g.7184629_7184630del | CA2580097058 | INSR | c.660_661del (p.Thr221HisfsTer3) n.635_636del c.738_739del (p.Thr247HisfsTer3) | ClinVar |
| 19 | g.7184630C>A | CA505400543 | INSR | c.660G>T (p.Pro220=) n.635G>T c.738G>T (p.Pro246=) | gnomAD v4 |
| 19 | g.7184630C= | CA2320795932 | INSR | c.660G= (p.Pro220=) n.635G= c.738G= (p.Pro246=) | |
| 19 | g.7184630C>G | CA505400544 | INSR | c.660G>C (p.Pro220=) n.635G>C c.738G>C (p.Pro246=) | |
| 19 | g.7184630C>T | CA505400545 | INSR | c.660G>A (p.Pro220=) n.635G>A c.738G>A (p.Pro246=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7184631G>A | CA9136036 | INSR | c.659C>T (p.Pro220Leu) n.634C>T c.737C>T (p.Pro246Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184631G>C | CA403670746 | INSR | c.659C>G (p.Pro220Arg) n.634C>G c.737C>G (p.Pro246Arg) | |
| 19 | g.7184631G= | CA2320795933 | INSR | c.659C= (p.Pro220=) n.634C= c.737C= (p.Pro246=) | |
| 19 | g.7184631G>T | CA403670748 | INSR | c.659C>A (p.Pro220Gln) n.634C>A c.737C>A (p.Pro246Gln) | gnomAD v4 |
| 19 | g.7184632G>A | CA304866756 | INSR | c.658C>T (p.Pro220Ser) n.633C>T c.736C>T (p.Pro246Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184632G>C | CA403670752 | INSR | c.658C>G (p.Pro220Ala) n.633C>G c.736C>G (p.Pro246Ala) | |
| 19 | g.7184632G= | CA2320795934 | INSR | c.658C= (p.Pro220=) n.633C= c.736C= (p.Pro246=) | |
| 19 | g.7184632G>T | CA403670754 | INSR | c.658C>A (p.Pro220Thr) n.633C>A c.736C>A (p.Pro246Thr) | gnomAD v4 |
| 19 | g.7184633G>A | CA9136037 | INSR | c.657C>T (p.Cys219=) n.632C>T c.735C>T (p.Cys245=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184633G>C | CA403670757 | INSR | c.657C>G (p.Cys219Trp) n.632C>G c.735C>G (p.Cys245Trp) | |
| 19 | g.7184633G= | CA2320795935 | INSR | c.657C= (p.Cys219=) n.632C= c.735C= (p.Cys245=) | |
| 19 | g.7184633G>T | CA403670759 | INSR | c.657C>A (p.Cys219Ter) n.632C>A c.735C>A (p.Cys245Ter) | gnomAD v4 |
| 19 | g.7184634C>A | CA403670763 | INSR | c.656G>T (p.Cys219Phe) n.631G>T c.734G>T (p.Cys245Phe) | gnomAD v4 |
| 19 | g.7184634C>G | CA403670765 | INSR | c.656G>C (p.Cys219Ser) n.631G>C c.734G>C (p.Cys245Ser) | |
| 19 | g.7184634C>T | CA403670767 | INSR | c.656G>A (p.Cys219Tyr) n.631G>A c.734G>A (p.Cys245Tyr) | gnomAD v4 COSMIC COSMIC |
| 19 | g.7184635A= | CA2320795936 | INSR | c.655T= (p.Cys219=) n.630T= c.733T= (p.Cys245=) | |
| 19 | g.7184635A>C | CA403670776 | INSR | c.655T>G (p.Cys219Gly) n.630T>G c.733T>G (p.Cys245Gly) | |
| 19 | g.7184635A>G | CA9136038 | INSR | c.655T>C (p.Cys219Arg) n.630T>C c.733T>C (p.Cys245Arg) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.7184635A>T | CA403670775 | INSR | c.655T>A (p.Cys219Ser) n.630T>A c.733T>A (p.Cys245Ser) | |
| 19 | g.7184636A>C | CA505400546 | INSR | c.654T>G (p.Val218=) n.629T>G c.732T>G (p.Val244=) | |
| 19 | g.7184636A>G | CA505400547 | INSR | c.654T>C (p.Val218=) n.629T>C c.732T>C (p.Val244=) | |
| 19 | g.7184636A>T | CA505400548 | INSR | c.654T>A (p.Val218=) n.629T>A c.732T>A (p.Val244=) | |
| 19 | g.7184637A>C | CA403670782 | INSR | c.653T>G (p.Val218Gly) n.628T>G c.731T>G (p.Val244Gly) | |
| 19 | g.7184637A>G | CA403670779 | INSR | c.653T>C (p.Val218Ala) n.628T>C c.731T>C (p.Val244Ala) | |
| 19 | g.7184637A>T | CA403670781 | INSR | c.653T>A (p.Val218Asp) n.628T>A c.731T>A (p.Val244Asp) | |
| 19 | g.7184638C>A | CA403670785 | INSR | c.653-1G>T (n.653-1G>T) n.628-1G>T c.731-1G>T (n.731-1G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7184638C= | CA2320795937 | INSR | c.653-1G= (n.653-1G=) n.628-1G= c.731-1G= (n.731-1G=) | |
| 19 | g.7184638C>G | CA403670787 | INSR | c.653-1G>C (n.653-1G>C) n.628-1G>C c.731-1G>C (n.731-1G>C) | gnomAD v4 |
| 19 | g.7184638C>T | CA403670789 | INSR | c.653-1G>A (n.653-1G>A) n.628-1G>A c.731-1G>A (n.731-1G>A) | |
| 19 | g.7184639T>A | CA403670792 | INSR | c.653-2A>T (n.653-2A>T) n.628-2A>T c.731-2A>T (n.731-2A>T) | |
| 19 | g.7184639T>C | CA403670793 | INSR | c.653-2A>G (n.653-2A>G) n.628-2A>G c.731-2A>G (n.731-2A>G) | gnomAD v4 |
| 19 | g.7184639T>G | CA403670795 | INSR | c.653-2A>C (n.653-2A>C) n.628-2A>C c.731-2A>C (n.731-2A>C) | |
| 19 | g.7184639T= | CA2320795938 | INSR | c.653-2A= (n.653-2A=) n.628-2A= c.731-2A= (n.731-2A=) | |
| 19 | g.7184639_7184640insA | CA2587926230 | INSR | c.653-3_653-2insT (n.653-3_653-2insT) n.628-3_628-2insT c.731-3_731-2insT (n.731-3_731-2insT) | gnomAD v4 |
| 19 | g.7184640G>A | CA304866786 | INSR | c.653-3C>T (n.653-3C>T) n.628-3C>T c.731-3C>T (n.731-3C>T) | dbSNP gnomAD v4 |
| 19 | g.7184640G= | CA913189089 | INSR | c.653-3C= (n.653-3C=) n.628-3C= c.731-3C= (n.731-3C=) | |
| 19 | g.7184640G>T | CA2587926236 | INSR | c.653-3C>A (n.653-3C>A) n.628-3C>A c.731-3C>A (n.731-3C>A) | gnomAD v4 |
| 19 | g.7184640_7184641insAGAG | CA645607113 | INSR | c.653-3_653-2insTCTC (n.653-3_653-2insTCTC) n.628-3_628-2insTCTC c.731-3_731-2insTCTC (n.731-3_731-2insTCTC) | COSMIC COSMIC |
| 19 | g.7184640_7184641del | CA2576595393 | INSR | c.653-4_653-3del (n.653-4_653-3del) n.628-4_628-3del c.731-4_731-3del (n.731-4_731-3del) | gnomAD v4 |
| 19 | g.7184641dup | CA920049410 | INSR | c.653-3dup (n.653-3dup) n.628-3dup c.731-3dup (n.731-3dup) | dbSNP |
| 19 | g.7184640_7184642delinsGGA | CA2573050353 | INSR | c.653-5_653-3delinsTCC (n.653-5_653-3delinsTCC) n.628-5_628-3delinsTCC c.731-5_731-3delinsTCC (n.731-5_731-3delinsTCC) | |
| 19 | g.7184640_7184643del | CA2587926232 | INSR | c.653-6_653-3del (n.653-6_653-3del) n.628-6_628-3del c.731-6_731-3del (n.731-6_731-3del) | gnomAD v4 |
| 19 | g.7184640_7184643dup | CA9136039 | INSR | c.653-6_653-3dup (n.653-6_653-3dup) n.628-6_628-3dup c.731-6_731-3dup (n.731-6_731-3dup) | dbSNP ExAC |
| 19 | g.7184640_7184652delinsGGAGAGAGAGAGA | CA2320795939 | INSR | c.653-15_653-3delinsTCTCTCTCTCTCC (n.653-15_653-3delinsTCTCTCTCTCTCC) n.628-15_628-3delinsTCTCTCTCTCTCC c.731-15_731-3delinsTCTCTCTCTCTCC (n.731-15_731-3delinsTCTCTCTCTCTCC) | |
| 19 | g.7184640_7184641insAGA | CA2587926286 | INSR | c.653-4_653-3insTCT (n.653-4_653-3insTCT) n.628-4_628-3insTCT c.731-4_731-3insTCT (n.731-4_731-3insTCT) | gnomAD v4 |
| 19 | g.7184641G>A | CA2587926278 | INSR | c.653-4C>T (n.653-4C>T) n.628-4C>T c.731-4C>T (n.731-4C>T) | gnomAD v4 |
| 19 | g.7184641G= | CA2320795951 | INSR | c.653-4C= (n.653-4C=) n.628-4C= c.731-4C= (n.731-4C=) | |
| 19 | g.7184641G>T | CA2587926279 | INSR | c.653-4C>A (n.653-4C>A) n.628-4C>A c.731-4C>A (n.731-4C>A) | gnomAD v4 |
| 19 | g.7184641_7184642delinsGA | CA2320795953 | INSR | c.653-5_653-4delinsTC (n.653-5_653-4delinsTC) n.628-5_628-4delinsTC c.731-5_731-4delinsTC (n.731-5_731-4delinsTC) | |
| 19 | g.7184661_7184662insAGAGAGAGAGAGAGAGAGAGAG | CA884188302 | INSR | c.653-4_653-3insTCTCTCTCTCTCTCTCTCTCTC (n.653-4_653-3insTCTCTCTCTCTCTCTCTCTCTC) n.628-4_628-3insTCTCTCTCTCTCTCTCTCTCTC c.731-4_731-3insTCTCTCTCTCTCTCTCTCTCTC (n.731-4_731-3insTCTCTCTCTCTCTCTCTCTCTC) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184661_7184662insAGAGAGAGAGAGAGAGAGAGAGAG | CA884188303 | INSR | c.653-4_653-3insTCTCTCTCTCTCTCTCTCTCTCTC (n.653-4_653-3insTCTCTCTCTCTCTCTCTCTCTCTC) n.628-4_628-3insTCTCTCTCTCTCTCTCTCTCTCTC c.731-4_731-3insTCTCTCTCTCTCTCTCTCTCTCTC (n.731-4_731-3insTCTCTCTCTCTCTCTCTCTCTCTC) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184661_7184662insAGAGAGAGAGAGAGAGAGAGAGAGAGAG | CA993124747 | INSR | c.653-4_653-3insTCTCTCTCTCTCTCTCTCTCTCTCTCTC (n.653-4_653-3insTCTCTCTCTCTCTCTCTCTCTCTCTCTC) n.628-4_628-3insTCTCTCTCTCTCTCTCTCTCTCTCTCTC c.731-4_731-3insTCTCTCTCTCTCTCTCTCTCTCTCTCTC (n.731-4_731-3insTCTCTCTCTCTCTCTCTCTCTCTCTCTC) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184661_7184662insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG | CA993124751 | INSR | c.653-4_653-3insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC (n.653-4_653-3insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC) n.628-4_628-3insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC c.731-4_731-3insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC (n.731-4_731-3insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184660_7184661dup | CA209282 | INSR | c.653-5_653-4dup (n.653-5_653-4dup) n.628-5_628-4dup c.731-5_731-4dup (n.731-5_731-4dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184658_7184661dup | CA9136040 | INSR | c.653-7_653-4dup (n.653-7_653-4dup) n.628-7_628-4dup c.731-7_731-4dup (n.731-7_731-4dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184656_7184661dup | CA9136043 | INSR | c.653-9_653-4dup (n.653-9_653-4dup) n.628-9_628-4dup c.731-9_731-4dup (n.731-9_731-4dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184654_7184661dup | CA9136042 | INSR | c.653-11_653-4dup (n.653-11_653-4dup) n.628-11_628-4dup c.731-11_731-4dup (n.731-11_731-4dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184652_7184661dup | CA884188296 | INSR | c.653-13_653-4dup (n.653-13_653-4dup) n.628-13_628-4dup c.731-13_731-4dup (n.731-13_731-4dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184650_7184661dup | CA884188297 | INSR | c.653-15_653-4dup (n.653-15_653-4dup) n.628-15_628-4dup c.731-15_731-4dup (n.731-15_731-4dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184648_7184661dup | CA884188298 | INSR | c.653-17_653-4dup (n.653-17_653-4dup) n.628-17_628-4dup c.731-17_731-4dup (n.731-17_731-4dup) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184646_7184661dup | CA884188299 | INSR | c.653-19_653-4dup (n.653-19_653-4dup) n.628-19_628-4dup c.731-19_731-4dup (n.731-19_731-4dup) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184644_7184661dup | CA993124760 | INSR | c.653-21_653-4dup (n.653-21_653-4dup) n.628-21_628-4dup c.731-21_731-4dup (n.731-21_731-4dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184642_7184661dup | CA631723710 | INSR | c.653-23_653-4dup (n.653-23_653-4dup) n.628-23_628-4dup c.731-23_731-4dup (n.731-23_731-4dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184660_7184661del | CA248797 | INSR | c.653-5_653-4del (n.653-5_653-4del) n.628-5_628-4del c.731-5_731-4del (n.731-5_731-4del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7184658_7184661del | CA9136041 | INSR | c.653-7_653-4del (n.653-7_653-4del) n.628-7_628-4del c.731-7_731-4del (n.731-7_731-4del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184656_7184661del | CA304866810 | INSR | c.653-9_653-4del (n.653-9_653-4del) n.628-9_628-4del c.731-9_731-4del (n.731-9_731-4del) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184654_7184661del | CA884188307 | INSR | c.653-11_653-4del (n.653-11_653-4del) n.628-11_628-4del c.731-11_731-4del (n.731-11_731-4del) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184652_7184661del | CA2580613034 | INSR | c.653-13_653-4del (n.653-13_653-4del) n.628-13_628-4del c.731-13_731-4del (n.731-13_731-4del) | ClinVar gnomAD v4 |
| 19 | g.7184650_7184661del | CA2320795969 | INSR | c.653-15_653-4del (n.653-15_653-4del) n.628-15_628-4del c.731-15_731-4del (n.731-15_731-4del) | dbSNP gnomAD v4 |
| 19 | g.7184641_7184642insGA | CA304866813 | INSR | c.653-5_653-4insTC (n.653-5_653-4insTC) n.628-5_628-4insTC c.731-5_731-4insTC (n.731-5_731-4insTC) | ClinVar dbSNP |
| 19 | g.7184642del | CA920049411 | INSR | c.653-5del (n.653-5del) n.628-5del c.731-5del (n.731-5del) | dbSNP gnomAD v4 |
| 19 | g.7184642A= | CA2320795977 | INSR | c.653-5T= (n.653-5T=) n.628-5T= c.731-5T= (n.731-5T=) | |
| 19 | g.7184642A>G | CA2320795978 | INSR | c.653-5T>C (n.653-5T>C) n.628-5T>C c.731-5T>C (n.731-5T>C) | dbSNP |
| 19 | g.7184642_7184644del | CA2587926293 | INSR | c.653-7_653-5del (n.653-7_653-5del) n.628-7_628-5del c.731-7_731-5del (n.731-7_731-5del) | gnomAD v4 |
| 19 | g.7184643del | CA2587926296 | INSR | c.653-6del (n.653-6del) n.628-6del c.731-6del (n.731-6del) | gnomAD v4 |
| 19 | g.7184643G>A | CA9136046 | INSR | c.653-6C>T (n.653-6C>T) n.628-6C>T c.731-6C>T (n.731-6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184643G>C | CA9136045 | INSR | c.653-6C>G (n.653-6C>G) n.628-6C>G c.731-6C>G (n.731-6C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184643G= | CA2320795990 | INSR | c.653-6C= (n.653-6C=) n.628-6C= c.731-6C= (n.731-6C=) | |
| 19 | g.7184643_7184644insGG | CA631723711 | INSR | c.653-6_653-5insCC (n.653-6_653-5insCC) n.628-6_628-5insCC c.731-6_731-5insCC (n.731-6_731-5insCC) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184643_7184644delinsGA | CA2320795991 | INSR | c.653-7_653-6delinsTC (n.653-7_653-6delinsTC) n.628-7_628-6delinsTC c.731-7_731-6delinsTC (n.731-7_731-6delinsTC) | |
| 19 | g.7184643_7184646delinsGAGA | CA2320795988 | INSR | c.653-9_653-6delinsTCTC (n.653-9_653-6delinsTCTC) n.628-9_628-6delinsTCTC c.731-9_731-6delinsTCTC (n.731-9_731-6delinsTCTC) |