OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7267517C>A | CA403159385 | INSR | c.480G>T (p.Trp160Cys) n.455G>T c.558G>T (p.Trp186Cys) | |
| 19 | g.7267517C>G | CA403159386 | INSR | c.480G>C (p.Trp160Cys) n.455G>C c.558G>C (p.Trp186Cys) | |
| 19 | g.7267517C>T | CA403159387 | INSR | c.480G>A (p.Trp160Ter) n.455G>A c.558G>A (p.Trp186Ter) | |
| 19 | g.7267518C>A | CA403159388 | INSR | c.479G>T (p.Trp160Leu) n.454G>T c.557G>T (p.Trp186Leu) | |
| 19 | g.7267518C= | CA2320836444 | INSR | c.479G= (p.Trp160=) n.454G= c.557G= (p.Trp186=) | |
| 19 | g.7267518C>G | CA403159389 | INSR | c.479G>C (p.Trp160Ser) n.454G>C c.557G>C (p.Trp186Ser) | |
| 19 | g.7267518C>T | CA124238 | INSR | c.479G>A (p.Trp160Ter) n.454G>A c.557G>A (p.Trp186Ter) | ClinVar dbSNP gnomAD v4 |
| 19 | g.7267519A>C | CA403159390 | INSR | c.478T>G (p.Trp160Gly) n.453T>G c.556T>G (p.Trp186Gly) | |
| 19 | g.7267519A>G | CA403159392 | INSR | c.478T>C (p.Trp160Arg) n.453T>C c.556T>C (p.Trp186Arg) | gnomAD v4 |
| 19 | g.7267519A>T | CA403159391 | INSR | c.478T>A (p.Trp160Arg) n.453T>A c.556T>A (p.Trp186Arg) | |
| 19 | g.7267520G>A | CA505481815 | INSR | c.477C>T (p.Asp159=) n.452C>T c.555C>T (p.Asp185=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267520G>C | CA403159393 | INSR | c.477C>G (p.Asp159Glu) n.452C>G c.555C>G (p.Asp185Glu) | |
| 19 | g.7267520G= | CA2320836445 | INSR | c.477C= (p.Asp159=) n.452C= c.555C= (p.Asp185=) | |
| 19 | g.7267520G>T | CA403159394 | INSR | c.477C>A (p.Asp159Glu) n.452C>A c.555C>A (p.Asp185Glu) | COSMIC COSMIC |
| 19 | g.7267521T>A | CA403159395 | INSR | c.476A>T (p.Asp159Val) n.451A>T c.554A>T (p.Asp185Val) | gnomAD v4 |
| 19 | g.7267521T>C | CA403159396 | INSR | c.476A>G (p.Asp159Gly) n.451A>G c.554A>G (p.Asp185Gly) | |
| 19 | g.7267521T>G | CA403159397 | INSR | c.476A>C (p.Asp159Ala) n.451A>C c.554A>C (p.Asp185Ala) | |
| 19 | g.7267522C>A | CA403159398 | INSR | c.475G>T (p.Asp159Tyr) n.450G>T c.553G>T (p.Asp185Tyr) | |
| 19 | g.7267522C>G | CA403159399 | INSR | c.475G>C (p.Asp159His) n.450G>C c.553G>C (p.Asp185His) | |
| 19 | g.7267522C>T | CA403159400 | INSR | c.475G>A (p.Asp159Asn) n.450G>A c.553G>A (p.Asp185Asn) | |
| 19 | g.7267523G>A | CA9136115 | INSR | c.474C>T (p.Ile158=) n.449C>T c.552C>T (p.Ile184=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267523G>C | CA403159401 | INSR | c.474C>G (p.Ile158Met) n.449C>G c.552C>G (p.Ile184Met) | |
| 19 | g.7267523G= | CA2320836446 | INSR | c.474C= (p.Ile158=) n.449C= c.552C= (p.Ile184=) | |
| 19 | g.7267523G>T | CA9136116 | INSR | c.474C>A (p.Ile158=) n.449C>A c.552C>A (p.Ile184=) | dbSNP ExAC gnomAD v2 |
| 19 | g.7267524A>C | CA403159404 | INSR | c.473T>G (p.Ile158Ser) n.448T>G c.551T>G (p.Ile184Ser) | |
| 19 | g.7267524A>G | CA403159403 | INSR | c.473T>C (p.Ile158Thr) n.448T>C c.551T>C (p.Ile184Thr) | |
| 19 | g.7267524A>T | CA403159402 | INSR | c.473T>A (p.Ile158Asn) n.448T>A c.551T>A (p.Ile184Asn) | |
| 19 | g.7267525T>A | CA403159405 | INSR | c.472A>T (p.Ile158Phe) n.447A>T c.550A>T (p.Ile184Phe) | |
| 19 | g.7267525T>C | CA9136117 | INSR | c.472A>G (p.Ile158Val) n.447A>G c.550A>G (p.Ile184Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267525T>G | CA403159406 | INSR | c.472A>C (p.Ile158Leu) n.447A>C c.550A>C (p.Ile184Leu) | |
| 19 | g.7267525T= | CA2320836447 | INSR | c.472A= (p.Ile158=) n.447A= c.550A= (p.Ile184=) | |
| 19 | g.7267526A>C | CA505481816 | INSR | c.471T>G (p.Thr157=) n.446T>G c.549T>G (p.Thr183=) | |
| 19 | g.7267526A>G | CA505481817 | INSR | c.471T>C (p.Thr157=) n.446T>C c.549T>C (p.Thr183=) | |
| 19 | g.7267526A>T | CA505481818 | INSR | c.471T>A (p.Thr157=) n.446T>A c.549T>A (p.Thr183=) | |
| 19 | g.7267527G>A | CA403159407 | INSR | c.470C>T (p.Thr157Ile) n.445C>T c.548C>T (p.Thr183Ile) | |
| 19 | g.7267527G>C | CA403159408 | INSR | c.470C>G (p.Thr157Ser) n.445C>G c.548C>G (p.Thr183Ser) | |
| 19 | g.7267527G>T | CA403159409 | INSR | c.470C>A (p.Thr157Asn) n.445C>A c.548C>A (p.Thr183Asn) | |
| 19 | g.7267528T>A | CA403159410 | INSR | c.469A>T (p.Thr157Ser) n.444A>T c.547A>T (p.Thr183Ser) | |
| 19 | g.7267528T>C | CA403159411 | INSR | c.469A>G (p.Thr157Ala) n.444A>G c.547A>G (p.Thr183Ala) | |
| 19 | g.7267528T>G | CA403159412 | INSR | c.469A>C (p.Thr157Pro) n.444A>C c.547A>C (p.Thr183Pro) | |
| 19 | g.7267529G>A | CA505481819 | INSR | c.468C>T (p.Ala156=) n.443C>T c.546C>T (p.Ala182=) | |
| 19 | g.7267529G>C | CA505481820 | INSR | c.468C>G (p.Ala156=) n.443C>G c.546C>G (p.Ala182=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7267529G= | CA2320836448 | INSR | c.468C= (p.Ala156=) n.443C= c.546C= (p.Ala182=) | |
| 19 | g.7267529G>T | CA505481821 | INSR | c.468C>A (p.Ala156=) n.443C>A c.546C>A (p.Ala182=) | |
| 19 | g.7267530G>A | CA403159413 | INSR | c.467C>T (p.Ala156Val) n.442C>T c.545C>T (p.Ala182Val) | dbSNP COSMIC COSMIC |
| 19 | g.7267530G>C | CA403159414 | INSR | c.467C>G (p.Ala156Gly) n.442C>G c.545C>G (p.Ala182Gly) | |
| 19 | g.7267530G= | CA2320836449 | INSR | c.467C= (p.Ala156=) n.442C= c.545C= (p.Ala182=) | |
| 19 | g.7267530G>T | CA403159415 | INSR | c.467C>A (p.Ala156Asp) n.442C>A c.545C>A (p.Ala182Asp) | |
| 19 | g.7267531C>A | CA403159417 | INSR | c.466G>T (p.Ala156Ser) n.441G>T c.544G>T (p.Ala182Ser) | |
| 19 | g.7267531C= | CA2320836450 | INSR | c.466G= (p.Ala156=) n.441G= c.544G= (p.Ala182=) | |
| 19 | g.7267531C>G | CA403159416 | INSR | c.466G>C (p.Ala156Pro) n.441G>C c.544G>C (p.Ala182Pro) | |
| 19 | g.7267531C>T | CA9136118 | INSR | c.466G>A (p.Ala156Thr) n.441G>A c.544G>A (p.Ala182Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267532C>A | CA403159419 | INSR | c.465G>T (p.Leu155Phe) n.440G>T c.543G>T (p.Leu181Phe) | |
| 19 | g.7267532C>G | CA403159418 | INSR | c.465G>C (p.Leu155Phe) n.440G>C c.543G>C (p.Leu181Phe) | |
| 19 | g.7267532C>T | CA505481822 | INSR | c.465G>A (p.Leu155=) n.440G>A c.543G>A (p.Leu181=) | |
| 19 | g.7267533A>C | CA403159422 | INSR | c.464T>G (p.Leu155Trp) n.439T>G c.542T>G (p.Leu181Trp) | |
| 19 | g.7267533A>G | CA403159420 | INSR | c.464T>C (p.Leu155Ser) n.439T>C c.542T>C (p.Leu181Ser) | |
| 19 | g.7267533A>T | CA403159421 | INSR | c.464T>A (p.Leu155Ter) n.439T>A c.542T>A (p.Leu181Ter) | |
| 19 | g.7267534A>C | CA403159423 | INSR | c.463T>G (p.Leu155Val) n.438T>G c.541T>G (p.Leu181Val) | |
| 19 | g.7267534A>G | CA505481823 | INSR | c.463T>C (p.Leu155=) n.438T>C c.541T>C (p.Leu181=) | |
| 19 | g.7267534A>T | CA403159424 | INSR | c.463T>A (p.Leu155Met) n.438T>A c.541T>A (p.Leu181Met) | |
| 19 | g.7267535G>A | CA9136119 | INSR | c.462C>T (p.Tyr154=) n.437C>T c.540C>T (p.Tyr180=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267535G>C | CA403159425 | INSR | c.462C>G (p.Tyr154Ter) n.437C>G c.540C>G (p.Tyr180Ter) | |
| 19 | g.7267535G= | CA2320836451 | INSR | c.462C= (p.Tyr154=) n.437C= c.540C= (p.Tyr180=) | |
| 19 | g.7267535G>T | CA403159426 | INSR | c.462C>A (p.Tyr154Ter) n.437C>A c.540C>A (p.Tyr180Ter) | |
| 19 | g.7267536T>A | CA403159427 | INSR | c.461A>T (p.Tyr154Phe) n.436A>T c.539A>T (p.Tyr180Phe) | |
| 19 | g.7267536T>C | CA403159428 | INSR | c.461A>G (p.Tyr154Cys) n.436A>G c.539A>G (p.Tyr180Cys) | |
| 19 | g.7267536T>G | CA403159429 | INSR | c.461A>C (p.Tyr154Ser) n.436A>C c.539A>C (p.Tyr180Ser) | |
| 19 | g.7267537A= | CA2320836452 | INSR | c.460T= (p.Tyr154=) n.435T= c.538T= (p.Tyr180=) | |
| 19 | g.7267537A>C | CA403159430 | INSR | c.460T>G (p.Tyr154Asp) n.435T>G c.538T>G (p.Tyr180Asp) | |
| 19 | g.7267537A>G | CA403159431 | INSR | c.460T>C (p.Tyr154His) n.435T>C c.538T>C (p.Tyr180His) | dbSNP |
| 19 | g.7267537A>T | CA403159432 | INSR | c.460T>A (p.Tyr154Asn) n.435T>A c.538T>A (p.Tyr180Asn) | |
| 19 | g.7267538A>C | CA403159433 | INSR | c.459T>G (p.Cys153Trp) n.434T>G c.537T>G (p.Cys179Trp) | |
| 19 | g.7267538A>G | CA505481824 | INSR | c.459T>C (p.Cys153=) n.434T>C c.537T>C (p.Cys179=) | |
| 19 | g.7267538A>T | CA403159434 | INSR | c.459T>A (p.Cys153Ter) n.434T>A c.537T>A (p.Cys179Ter) | |
| 19 | g.7267539C>A | CA403159435 | INSR | c.458G>T (p.Cys153Phe) n.433G>T c.536G>T (p.Cys179Phe) | |
| 19 | g.7267539C= | CA2320836453 | INSR | c.458G= (p.Cys153=) n.433G= c.536G= (p.Cys179=) | |
| 19 | g.7267539C>G | CA403159436 | INSR | c.458G>C (p.Cys153Ser) n.433G>C c.536G>C (p.Cys179Ser) | |
| 19 | g.7267539C>T | CA403159437 | INSR | c.458G>A (p.Cys153Tyr) n.433G>A c.536G>A (p.Cys179Tyr) | dbSNP |
| 19 | g.7267540A>C | CA403159438 | INSR | c.457T>G (p.Cys153Gly) n.432T>G c.535T>G (p.Cys179Gly) | |
| 19 | g.7267540A>G | CA403159439 | INSR | c.457T>C (p.Cys153Arg) n.432T>C c.535T>C (p.Cys179Arg) | |
| 19 | g.7267540A>T | CA403159440 | INSR | c.457T>A (p.Cys153Ser) n.432T>A c.535T>A (p.Cys179Ser) | |
| 19 | g.7267541G>A | CA505481827 | INSR | c.456C>T (p.Leu152=) n.431C>T c.534C>T (p.Leu178=) | |
| 19 | g.7267541G>C | CA505481826 | INSR | c.456C>G (p.Leu152=) n.431C>G c.534C>G (p.Leu178=) | |
| 19 | g.7267541G>T | CA505481825 | INSR | c.456C>A (p.Leu152=) n.431C>A c.534C>A (p.Leu178=) | |
| 19 | g.7267542A>C | CA403159441 | INSR | c.455T>G (p.Leu152Arg) n.430T>G c.533T>G (p.Leu178Arg) | |
| 19 | g.7267542A>G | CA403159442 | INSR | c.455T>C (p.Leu152Pro) n.430T>C c.533T>C (p.Leu178Pro) | |
| 19 | g.7267542A>T | CA403159443 | INSR | c.455T>A (p.Leu152His) n.430T>A c.533T>A (p.Leu178His) | |
| 19 | g.7267543G>A | CA403159444 | INSR | c.454C>T (p.Leu152Phe) n.429C>T c.532C>T (p.Leu178Phe) | |
| 19 | g.7267543G>C | CA403159445 | INSR | c.454C>G (p.Leu152Val) n.429C>G c.532C>G (p.Leu178Val) | |
| 19 | g.7267543G>T | CA403159446 | INSR | c.454C>A (p.Leu152Ile) n.429C>A c.532C>A (p.Leu178Ile) | |
| 19 | g.7267544C>A | CA403159448 | INSR | c.453G>T (p.Glu151Asp) n.428G>T c.531G>T (p.Glu177Asp) | gnomAD v4 |
| 19 | g.7267544C>G | CA403159447 | INSR | c.453G>C (p.Glu151Asp) n.428G>C c.531G>C (p.Glu177Asp) | |
| 19 | g.7267544C>T | CA505481828 | INSR | c.453G>A (p.Glu151=) n.428G>A c.531G>A (p.Glu177=) | |
| 19 | g.7267545T>A | CA403159449 | INSR | c.452A>T (p.Glu151Val) n.427A>T c.530A>T (p.Glu177Val) | |
| 19 | g.7267545T>C | CA403159450 | INSR | c.452A>G (p.Glu151Gly) n.427A>G c.530A>G (p.Glu177Gly) | |
| 19 | g.7267545T>G | CA403159451 | INSR | c.452A>C (p.Glu151Ala) n.427A>C c.530A>C (p.Glu177Ala) | |
| 19 | g.7267546C>A | CA403159452 | INSR | c.451G>T (p.Glu151Ter) n.426G>T c.529G>T (p.Glu177Ter) | |
| 19 | g.7267546C>G | CA403159453 | INSR | c.451G>C (p.Glu151Gln) n.426G>C c.529G>C (p.Glu177Gln) | |
| 19 | g.7267546C>T | CA403159454 | INSR | c.451G>A (p.Glu151Lys) n.426G>A c.529G>A (p.Glu177Lys) | gnomAD v4 |
| 19 | g.7267547A= | CA2320836454 | INSR | c.450T= (p.Asn150=) n.425T= c.528T= (p.Asn176=) | |
| 19 | g.7267547A>C | CA403159455 | INSR | c.450T>G (p.Asn150Lys) n.425T>G c.528T>G (p.Asn176Lys) | gnomAD v4 |
| 19 | g.7267547A>G | CA9136120 | INSR | c.450T>C (p.Asn150=) n.425T>C c.528T>C (p.Asn176=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267547A>T | CA403159456 | INSR | c.450T>A (p.Asn150Lys) n.425T>A c.528T>A (p.Asn176Lys) | |
| 19 | g.7267548T>A | CA403159457 | INSR | c.449A>T (p.Asn150Ile) n.424A>T c.527A>T (p.Asn176Ile) | |
| 19 | g.7267548T>C | CA403159458 | INSR | c.449A>G (p.Asn150Ser) n.424A>G c.527A>G (p.Asn176Ser) | |
| 19 | g.7267548T>G | CA403159459 | INSR | c.449A>C (p.Asn150Thr) n.424A>C c.527A>C (p.Asn176Thr) | |
| 19 | g.7267549T>A | CA403159461 | INSR | c.448A>T (p.Asn150Tyr) n.423A>T c.526A>T (p.Asn176Tyr) | |
| 19 | g.7267549T>C | CA403159462 | INSR | c.448A>G (p.Asn150Asp) n.423A>G c.526A>G (p.Asn176Asp) | ClinVar gnomAD v4 |
| 19 | g.7267549T>G | CA403159460 | INSR | c.448A>C (p.Asn150His) n.423A>C c.526A>C (p.Asn176His) | |
| 19 | g.7267550G>A | CA505481829 | INSR | c.447C>T (p.Asn149=) n.422C>T c.525C>T (p.Asn175=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267550G>C | CA403159463 | INSR | c.447C>G (p.Asn149Lys) n.422C>G c.525C>G (p.Asn175Lys) | |
| 19 | g.7267550G= | CA2320836456 | INSR | c.447C= (p.Asn149=) n.422C= c.525C= (p.Asn175=) | |
| 19 | g.7267550G>T | CA403159464 | INSR | c.447C>A (p.Asn149Lys) n.422C>A c.525C>A (p.Asn175Lys) | |
| 19 | g.7267550_7267551delinsGT | CA2320836455 | INSR | c.446_447delinsAC (p.Asn149=) n.421_422delinsAC c.524_525delinsAC (p.Asn175=) | |
| 19 | g.7267551T>A | CA403159465 | INSR | c.446A>T (p.Asn149Ile) n.421A>T c.524A>T (p.Asn175Ile) | |
| 19 | g.7267551T>C | CA403159466 | INSR | c.446A>G (p.Asn149Ser) n.421A>G c.524A>G (p.Asn175Ser) | |
| 19 | g.7267551T>G | CA403159467 | INSR | c.446A>C (p.Asn149Thr) n.421A>C c.524A>C (p.Asn175Thr) | |
| 19 | g.7267552del | CA304647882 | INSR | c.446del (p.Asn149ThrfsTer26) n.421del c.524del (p.Asn175ThrfsTer26) | dbSNP |
| 19 | g.7267555_7267557del | CA913046753 | INSR | c.444_446del (p.Lys148del) n.419_421del c.522_524del (p.Lys174del) | gnomAD v4 |
| 19 | g.7267552T>A | CA403159468 | INSR | c.445A>T (p.Asn149Tyr) n.420A>T c.523A>T (p.Asn175Tyr) | |
| 19 | g.7267552T>C | CA403159470 | INSR | c.445A>G (p.Asn149Asp) n.420A>G c.523A>G (p.Asn175Asp) | |
| 19 | g.7267552T>G | CA403159469 | INSR | c.445A>C (p.Asn149His) n.420A>C c.523A>C (p.Asn175His) | |
| 19 | g.7267553C>A | CA403159471 | INSR | c.444G>T (p.Lys148Asn) n.419G>T c.522G>T (p.Lys174Asn) | |
| 19 | g.7267553C>G | CA403159472 | INSR | c.444G>C (p.Lys148Asn) n.419G>C c.522G>C (p.Lys174Asn) | |
| 19 | g.7267553C>T | CA505481830 | INSR | c.444G>A (p.Lys148=) n.419G>A c.522G>A (p.Lys174=) | gnomAD v4 |
| 19 | g.7267554T>A | CA403159473 | INSR | c.443A>T (p.Lys148Met) n.418A>T c.521A>T (p.Lys174Met) | |
| 19 | g.7267554T>C | CA403159474 | INSR | c.443A>G (p.Lys148Arg) n.418A>G c.521A>G (p.Lys174Arg) | |
| 19 | g.7267554T>G | CA403159475 | INSR | c.443A>C (p.Lys148Thr) n.418A>C c.521A>C (p.Lys174Thr) | |
| 19 | g.7267555T>A | CA124259 | INSR | c.442A>T (p.Lys148Ter) n.417A>T c.520A>T (p.Lys174Ter) | ClinVar dbSNP |
| 19 | g.7267555T>C | CA403159477 | INSR | c.442A>G (p.Lys148Glu) n.417A>G c.520A>G (p.Lys174Glu) | |
| 19 | g.7267555T>G | CA403159476 | INSR | c.442A>C (p.Lys148Gln) n.417A>C c.520A>C (p.Lys174Gln) | |
| 19 | g.7267555T= | CA2320836457 | INSR | c.442A= (p.Lys148=) n.417A= c.520A= (p.Lys174=) | |
| 19 | g.7267556C>A | CA403159478 | INSR | c.441G>T (p.Glu147Asp) n.416G>T c.519G>T (p.Glu173Asp) | |
| 19 | g.7267556C= | CA2320836458 | INSR | c.441G= (p.Glu147=) n.416G= c.519G= (p.Glu173=) | |
| 19 | g.7267556C>G | CA403159479 | INSR | c.441G>C (p.Glu147Asp) n.416G>C c.519G>C (p.Glu173Asp) | |
| 19 | g.7267556C>T | CA9136121 | INSR | c.441G>A (p.Glu147=) n.416G>A c.519G>A (p.Glu173=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267557T>A | CA403159480 | INSR | c.440A>T (p.Glu147Val) n.415A>T c.518A>T (p.Glu173Val) | |
| 19 | g.7267557T>C | CA403159482 | INSR | c.440A>G (p.Glu147Gly) n.415A>G c.518A>G (p.Glu173Gly) | |
| 19 | g.7267557T>G | CA403159481 | INSR | c.440A>C (p.Glu147Ala) n.415A>C c.518A>C (p.Glu173Ala) | |
| 19 | g.7267558C>A | CA403159483 | INSR | c.439G>T (p.Glu147Ter) n.414G>T c.517G>T (p.Glu173Ter) | |
| 19 | g.7267558C= | CA2320836459 | INSR | c.439G= (p.Glu147=) n.414G= c.517G= (p.Glu173=) | |
| 19 | g.7267558C>G | CA403159484 | INSR | c.439G>C (p.Glu147Gln) n.414G>C c.517G>C (p.Glu173Gln) | |
| 19 | g.7267558C>T | CA403159485 | INSR | c.439G>A (p.Glu147Lys) n.414G>A c.517G>A (p.Glu173Lys) | dbSNP gnomAD v4 COSMIC COSMIC |
| 19 | g.7267559G>A | CA505481831 | INSR | c.438C>T (p.Ile146=) n.413C>T c.516C>T (p.Ile172=) | gnomAD v4 |
| 19 | g.7267559G>C | CA124271 | INSR | c.438C>G (p.Ile146Met) n.413C>G c.516C>G (p.Ile172Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267559G= | CA2320836460 | INSR | c.438C= (p.Ile146=) n.413C= c.516C= (p.Ile172=) | |
| 19 | g.7267559G>T | CA505481832 | INSR | c.438C>A (p.Ile146=) n.413C>A c.516C>A (p.Ile172=) | |
| 19 | g.7267560A>C | CA403159486 | INSR | c.437T>G (p.Ile146Ser) n.412T>G c.515T>G (p.Ile172Ser) | |
| 19 | g.7267560A>G | CA403159487 | INSR | c.437T>C (p.Ile146Thr) n.412T>C c.515T>C (p.Ile172Thr) | |
| 19 | g.7267560A>T | CA403159488 | INSR | c.437T>A (p.Ile146Asn) n.412T>A c.515T>A (p.Ile172Asn) | |
| 19 | g.7267561T>A | CA403159489 | INSR | c.436A>T (p.Ile146Phe) n.411A>T c.514A>T (p.Ile172Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7267561T>C | CA403159490 | INSR | c.436A>G (p.Ile146Val) n.411A>G c.514A>G (p.Ile172Val) | |
| 19 | g.7267561T>G | CA403159491 | INSR | c.436A>C (p.Ile146Leu) n.411A>C c.514A>C (p.Ile172Leu) | |
| 19 | g.7267561T= | CA2320836461 | INSR | c.436A= (p.Ile146=) n.411A= c.514A= (p.Ile172=) | |
| 19 | g.7267562G>A | CA505481833 | INSR | c.435C>T (p.Arg145=) n.410C>T c.513C>T (p.Arg171=) | |
| 19 | g.7267562G>C | CA505481834 | INSR | c.435C>G (p.Arg145=) n.410C>G c.513C>G (p.Arg171=) | |
| 19 | g.7267562G= | CA2320836462 | INSR | c.435C= (p.Arg145=) n.410C= c.513C= (p.Arg171=) | |
| 19 | g.7267562G>T | CA505481835 | INSR | c.435C>A (p.Arg145=) n.410C>A c.513C>A (p.Arg171=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267563C>A | CA403159494 | INSR | c.434G>T (p.Arg145Leu) n.409G>T c.512G>T (p.Arg171Leu) | gnomAD v4 |
| 19 | g.7267563C= | CA2320836463 | INSR | c.434G= (p.Arg145=) n.409G= c.512G= (p.Arg171=) | |
| 19 | g.7267563C>G | CA403159492 | INSR | c.434G>C (p.Arg145Pro) n.409G>C c.512G>C (p.Arg171Pro) | |
| 19 | g.7267563C>T | CA403159493 | INSR | c.434G>A (p.Arg145His) n.409G>A c.512G>A (p.Arg171His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267564G>A | CA403159495 | INSR | c.433C>T (p.Arg145Cys) n.408C>T c.511C>T (p.Arg171Cys) | dbSNP gnomAD v4 |
| 19 | g.7267564G>C | CA403159496 | INSR | c.433C>G (p.Arg145Gly) n.408C>G c.511C>G (p.Arg171Gly) | |
| 19 | g.7267564G= | CA2320836464 | INSR | c.433C= (p.Arg145=) n.408C= c.511C= (p.Arg171=) | |
| 19 | g.7267564G>T | CA403159497 | INSR | c.433C>A (p.Arg145Ser) n.408C>A c.511C>A (p.Arg171Ser) | dbSNP |
| 19 | g.7267565G>A | CA505481836 | INSR | c.432C>T (p.Val144=) n.407C>T c.510C>T (p.Val170=) | gnomAD v4 COSMIC COSMIC |
| 19 | g.7267565G>C | CA505481837 | INSR | c.432C>G (p.Val144=) n.407C>G c.510C>G (p.Val170=) | |
| 19 | g.7267565G>T | CA505481838 | INSR | c.432C>A (p.Val144=) n.407C>A c.510C>A (p.Val170=) | |
| 19 | g.7267566A>C | CA403159498 | INSR | c.431T>G (p.Val144Gly) n.406T>G c.509T>G (p.Val170Gly) | |
| 19 | g.7267566A>G | CA403159499 | INSR | c.431T>C (p.Val144Ala) n.406T>C c.509T>C (p.Val170Ala) | |
| 19 | g.7267566A>T | CA403159500 | INSR | c.431T>A (p.Val144Asp) n.406T>A c.509T>A (p.Val170Asp) | |
| 19 | g.7267567C>A | CA403159501 | INSR | c.430G>T (p.Val144Phe) n.405G>T c.508G>T (p.Val170Phe) | |
| 19 | g.7267567C>G | CA403159502 | INSR | c.430G>C (p.Val144Leu) n.405G>C c.508G>C (p.Val170Leu) | |
| 19 | g.7267567C>T | CA403159503 | INSR | c.430G>A (p.Val144Ile) n.405G>A c.508G>A (p.Val170Ile) | |
| 19 | g.7267568A= | CA2320836465 | INSR | c.429T= (p.Ser143=) n.404T= c.507T= (p.Ser169=) | |
| 19 | g.7267568A>C | CA505481839 | INSR | c.429T>G (p.Ser143=) n.404T>G c.507T>G (p.Ser169=) | |
| 19 | g.7267568A>G | CA9136122 | INSR | c.429T>C (p.Ser143=) n.404T>C c.507T>C (p.Ser169=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267568A>T | CA505481840 | INSR | c.429T>A (p.Ser143=) n.404T>A c.507T>A (p.Ser169=) | |
| 19 | g.7267569G>A | CA403159505 | INSR | c.428C>T (p.Ser143Phe) n.403C>T c.506C>T (p.Ser169Phe) | |
| 19 | g.7267569G>C | CA403159506 | INSR | c.428C>G (p.Ser143Cys) n.403C>G c.506C>G (p.Ser169Cys) | |
| 19 | g.7267569G>T | CA403159504 | INSR | c.428C>A (p.Ser143Tyr) n.403C>A c.506C>A (p.Ser169Tyr) | |
| 19 | g.7267570A>C | CA403159507 | INSR | c.427T>G (p.Ser143Ala) n.402T>G c.505T>G (p.Ser169Ala) | |
| 19 | g.7267570A>G | CA403159508 | INSR | c.427T>C (p.Ser143Pro) n.402T>C c.505T>C (p.Ser169Pro) | |
| 19 | g.7267570A>T | CA403159509 | INSR | c.427T>A (p.Ser143Thr) n.402T>A c.505T>A (p.Ser169Thr) | |
| 19 | g.7267571A>C | CA505481841 | INSR | c.426T>G (p.Gly142=) n.401T>G c.504T>G (p.Gly168=) | |
| 19 | g.7267571A>G | CA505481842 | INSR | c.426T>C (p.Gly142=) n.401T>C c.504T>C (p.Gly168=) | |
| 19 | g.7267571A>T | CA505481843 | INSR | c.426T>A (p.Gly142=) n.401T>A c.504T>A (p.Gly168=) | |
| 19 | g.7267572C>A | CA403159510 | INSR | c.425G>T (p.Gly142Val) n.400G>T c.503G>T (p.Gly168Val) | gnomAD v4 |
| 19 | g.7267572C>G | CA403159511 | INSR | c.425G>C (p.Gly142Ala) n.400G>C c.503G>C (p.Gly168Ala) | |
| 19 | g.7267572C>T | CA403159512 | INSR | c.425G>A (p.Gly142Asp) n.400G>A c.503G>A (p.Gly168Asp) | gnomAD v4 |
| 19 | g.7267573C>A | CA403159513 | INSR | c.424G>T (p.Gly142Cys) n.399G>T c.502G>T (p.Gly168Cys) | |
| 19 | g.7267573C>G | CA403159514 | INSR | c.424G>C (p.Gly142Arg) n.399G>C c.502G>C (p.Gly168Arg) | |
| 19 | g.7267573C>T | CA403159515 | INSR | c.424G>A (p.Gly142Ser) n.399G>A c.502G>A (p.Gly168Ser) | |
| 19 | g.7267574C>A | CA505481846 | INSR | c.423G>T (p.Arg141=) n.398G>T c.501G>T (p.Arg167=) | |
| 19 | g.7267574C>G | CA505481845 | INSR | c.423G>C (p.Arg141=) n.398G>C c.501G>C (p.Arg167=) | |
| 19 | g.7267574C>T | CA505481844 | INSR | c.423G>A (p.Arg141=) n.398G>A c.501G>A (p.Arg167=) | |
| 19 | g.7267575C>A | CA403159516 | INSR | c.422G>T (p.Arg141Leu) n.397G>T c.500G>T (p.Arg167Leu) | |
| 19 | g.7267575C= | CA2320836466 | INSR | c.422G= (p.Arg141=) n.397G= c.500G= (p.Arg167=) | |
| 19 | g.7267575C>G | CA403159517 | INSR | c.422G>C (p.Arg141Pro) n.397G>C c.500G>C (p.Arg167Pro) | |
| 19 | g.7267575C>T | CA9136123 | INSR | c.422G>A (p.Arg141Gln) n.397G>A c.500G>A (p.Arg167Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267576G>A | CA403159519 | INSR | c.421C>T (p.Arg141Trp) n.396C>T c.499C>T (p.Arg167Trp) | ClinVar dbSNP gnomAD v4 |
| 19 | g.7267576G>C | CA403159518 | INSR | c.421C>G (p.Arg141Gly) n.396C>G c.499C>G (p.Arg167Gly) | |
| 19 | g.7267576G= | CA2320836467 | INSR | c.421C= (p.Arg141=) n.396C= c.499C= (p.Arg167=) | |
| 19 | g.7267576G>T | CA505481847 | INSR | c.421C>A (p.Arg141=) n.396C>A c.499C>A (p.Arg167=) | |
| 19 | g.7267577G>A | CA505481848 | INSR | c.420C>T (p.Thr140=) n.395C>T c.498C>T (p.Thr166=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267577G>C | CA505481849 | INSR | c.420C>G (p.Thr140=) n.395C>G c.498C>G (p.Thr166=) | |
| 19 | g.7267577G= | CA2320836468 | INSR | c.420C= (p.Thr140=) n.395C= c.498C= (p.Thr166=) | |
| 19 | g.7267577G>T | CA505481850 | INSR | c.420C>A (p.Thr140=) n.395C>A c.498C>A (p.Thr166=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267578G>A | CA403159520 | INSR | c.419C>T (p.Thr140Ile) n.394C>T c.497C>T (p.Thr166Ile) | |
| 19 | g.7267578G>C | CA403159521 | INSR | c.419C>G (p.Thr140Ser) n.394C>G c.497C>G (p.Thr166Ser) | |
| 19 | g.7267578G>T | CA403159522 | INSR | c.419C>A (p.Thr140Asn) n.394C>A c.497C>A (p.Thr166Asn) | |
| 19 | g.7267579T>A | CA403159523 | INSR | c.418A>T (p.Thr140Ser) n.393A>T c.496A>T (p.Thr166Ser) | |
| 19 | g.7267579T>C | CA403159524 | INSR | c.418A>G (p.Thr140Ala) n.393A>G c.496A>G (p.Thr166Ala) | |
| 19 | g.7267579T>G | CA403159525 | INSR | c.418A>C (p.Thr140Pro) n.393A>C c.496A>C (p.Thr166Pro) | |
| 19 | g.7267580G>A | CA9136124 | INSR | c.417C>T (p.Ile139=) n.392C>T c.495C>T (p.Ile165=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267580G>C | CA403159526 | INSR | c.417C>G (p.Ile139Met) n.392C>G c.495C>G (p.Ile165Met) | |
| 19 | g.7267580G= | CA2320836469 | INSR | c.417C= (p.Ile139=) n.392C= c.495C= (p.Ile165=) | |
| 19 | g.7267580G>T | CA505481851 | INSR | c.417C>A (p.Ile139=) n.392C>A c.495C>A (p.Ile165=) | dbSNP gnomAD v4 |
| 19 | g.7267581A>C | CA403159527 | INSR | c.416T>G (p.Ile139Ser) n.391T>G c.494T>G (p.Ile165Ser) | |
| 19 | g.7267581A>G | CA403159528 | INSR | c.416T>C (p.Ile139Thr) n.391T>C c.494T>C (p.Ile165Thr) | |
| 19 | g.7267581A>T | CA403159529 | INSR | c.416T>A (p.Ile139Asn) n.391T>A c.494T>A (p.Ile165Asn) | |
| 19 | g.7267582T>A | CA403159530 | INSR | c.415A>T (p.Ile139Phe) n.390A>T c.493A>T (p.Ile165Phe) | |
| 19 | g.7267582T>C | CA403159531 | INSR | c.415A>G (p.Ile139Val) n.390A>G c.493A>G (p.Ile165Val) | dbSNP gnomAD v4 |
| 19 | g.7267582T>G | CA403159532 | INSR | c.415A>C (p.Ile139Leu) n.390A>C c.493A>C (p.Ile165Leu) | |
| 19 | g.7267582T= | CA2320836470 | INSR | c.415A= (p.Ile139=) n.390A= c.493A= (p.Ile165=) | |
| 19 | g.7267583G>A | CA505481852 | INSR | c.414C>T (p.Asn138=) n.389C>T c.492C>T (p.Asn164=) | |
| 19 | g.7267583G>C | CA403159534 | INSR | c.414C>G (p.Asn138Lys) n.389C>G c.492C>G (p.Asn164Lys) | |
| 19 | g.7267583G>T | CA403159533 | INSR | c.414C>A (p.Asn138Lys) n.389C>A c.492C>A (p.Asn164Lys) | |
| 19 | g.7267583_7267584delinsGT | CA2320836471 | INSR | c.413_414delinsAC (p.Asn138=) n.388_389delinsAC c.491_492delinsAC (p.Asn164=) | |
| 19 | g.7267584T>A | CA403159535 | INSR | c.413A>T (p.Asn138Ile) n.388A>T c.491A>T (p.Asn164Ile) | |
| 19 | g.7267584T>C | CA403159536 | INSR | c.413A>G (p.Asn138Ser) n.388A>G c.491A>G (p.Asn164Ser) | gnomAD v4 |
| 19 | g.7267584T>G | CA403159537 | INSR | c.413A>C (p.Asn138Thr) n.388A>C c.491A>C (p.Asn164Thr) | |
| 19 | g.7267585del | CA304647929 | INSR | c.413del (p.Asn138ThrfsTer?) n.388del c.491del (p.Asn164ThrfsTer?) | dbSNP |
| 19 | g.7267585T>A | CA403159538 | INSR | c.412A>T (p.Asn138Tyr) n.387A>T c.490A>T (p.Asn164Tyr) | |
| 19 | g.7267585T>C | CA403159539 | INSR | c.412A>G (p.Asn138Asp) n.387A>G c.490A>G (p.Asn164Asp) | |
| 19 | g.7267585T>G | CA403159540 | INSR | c.412A>C (p.Asn138His) n.387A>C c.490A>C (p.Asn164His) | |
| 19 | g.7267586C>A | CA403159541 | INSR | c.411G>T (p.Met137Ile) n.386G>T c.489G>T (p.Met163Ile) | |
| 19 | g.7267586C>G | CA403159542 | INSR | c.411G>C (p.Met137Ile) n.386G>C c.489G>C (p.Met163Ile) | |
| 19 | g.7267586C>T | CA403159543 | INSR | c.411G>A (p.Met137Ile) n.386G>A c.489G>A (p.Met163Ile) | gnomAD v4 COSMIC COSMIC |
| 19 | g.7267587A>C | CA403159544 | INSR | c.410T>G (p.Met137Arg) n.385T>G c.488T>G (p.Met163Arg) | |
| 19 | g.7267587A>G | CA403159545 | INSR | c.410T>C (p.Met137Thr) n.385T>C c.488T>C (p.Met163Thr) | |
| 19 | g.7267587A>T | CA403159546 | INSR | c.410T>A (p.Met137Lys) n.385T>A c.488T>A (p.Met163Lys) | |
| 19 | g.7267588T>A | CA403159547 | INSR | c.409A>T (p.Met137Leu) n.384A>T c.487A>T (p.Met163Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267588T>C | CA9136125 | INSR | c.409A>G (p.Met137Val) n.384A>G c.487A>G (p.Met163Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267588T>G | CA403159548 | INSR | c.409A>C (p.Met137Leu) n.384A>C c.487A>C (p.Met163Leu) | |
| 19 | g.7267588T= | CA2320836472 | INSR | c.409A= (p.Met137=) n.384A= c.487A= (p.Met163=) | |
| 19 | g.7267589C>A | CA505481853 | INSR | c.408G>T (p.Leu136=) n.383G>T c.486G>T (p.Leu162=) | |
| 19 | g.7267589C= | CA2320836473 | INSR | c.408G= (p.Leu136=) n.383G= c.486G= (p.Leu162=) | |
| 19 | g.7267589C>G | CA505481854 | INSR | c.408G>C (p.Leu136=) n.383G>C c.486G>C (p.Leu162=) | |
| 19 | g.7267589C>T | CA505481855 | INSR | c.408G>A (p.Leu136=) n.383G>A c.486G>A (p.Leu162=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.7267590A= | CA2320836474 | INSR | c.407T= (p.Leu136=) n.382T= c.485T= (p.Leu162=) | |
| 19 | g.7267590A>C | CA9136126 | INSR | c.407T>G (p.Leu136Arg) n.382T>G c.485T>G (p.Leu162Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267590A>G | CA403159550 | INSR | c.407T>C (p.Leu136Pro) n.382T>C c.485T>C (p.Leu162Pro) | |
| 19 | g.7267590A>T | CA403159549 | INSR | c.407T>A (p.Leu136Gln) n.382T>A c.485T>A (p.Leu162Gln) | |
| 19 | g.7267591G>A | CA505481856 | INSR | c.406C>T (p.Leu136=) n.381C>T c.484C>T (p.Leu162=) | |
| 19 | g.7267591G>C | CA403159551 | INSR | c.406C>G (p.Leu136Val) n.381C>G c.484C>G (p.Leu162Val) | |
| 19 | g.7267591G>T | CA403159552 | INSR | c.406C>A (p.Leu136Met) n.381C>A c.484C>A (p.Leu162Met) | |
| 19 | g.7267592G>A | CA505481857 | INSR | c.405C>T (p.Asn135=) n.380C>T c.483C>T (p.Asn161=) | |
| 19 | g.7267592G>C | CA403159553 | INSR | c.405C>G (p.Asn135Lys) n.380C>G c.483C>G (p.Asn161Lys) | |
| 19 | g.7267592G>T | CA403159554 | INSR | c.405C>A (p.Asn135Lys) n.380C>A c.483C>A (p.Asn161Lys) | |
| 19 | g.7267593T>A | CA403159555 | INSR | c.404A>T (p.Asn135Ile) n.379A>T c.482A>T (p.Asn161Ile) | |
| 19 | g.7267593T>C | CA403159556 | INSR | c.404A>G (p.Asn135Ser) n.379A>G c.482A>G (p.Asn161Ser) | |
| 19 | g.7267593T>G | CA403159557 | INSR | c.404A>C (p.Asn135Thr) n.379A>C c.482A>C (p.Asn161Thr) | |
| 19 | g.7267594del | CA2587926377 | INSR | c.404del (p.Asn135ThrfsTer2) n.379del c.482del (p.Asn161ThrfsTer2) | gnomAD v4 |
| 19 | g.7267594T>A | CA403159558 | INSR | c.403A>T (p.Asn135Tyr) n.378A>T c.481A>T (p.Asn161Tyr) | |
| 19 | g.7267594T>C | CA403159559 | INSR | c.403A>G (p.Asn135Asp) n.378A>G c.481A>G (p.Asn161Asp) | |
| 19 | g.7267594T>G | CA403159560 | INSR | c.403A>C (p.Asn135His) n.378A>C c.481A>C (p.Asn161His) | |
| 19 | g.7267595G>A | CA9136127 | INSR | c.402C>T (p.Tyr134=) n.377C>T c.480C>T (p.Tyr160=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267595G>C | CA403159562 | INSR | c.402C>G (p.Tyr134Ter) n.377C>G c.480C>G (p.Tyr160Ter) | |
| 19 | g.7267595G= | CA2320836475 | INSR | c.402C= (p.Tyr134=) n.377C= c.480C= (p.Tyr160=) | |
| 19 | g.7267595G>T | CA403159561 | INSR | c.402C>A (p.Tyr134Ter) n.377C>A c.480C>A (p.Tyr160Ter) | |
| 19 | g.7267596T>A | CA403159563 | INSR | c.401A>T (p.Tyr134Phe) n.376A>T c.479A>T (p.Tyr160Phe) | |
| 19 | g.7267596T>C | CA403159564 | INSR | c.401A>G (p.Tyr134Cys) n.376A>G c.479A>G (p.Tyr160Cys) | |
| 19 | g.7267596T>G | CA403159565 | INSR | c.401A>C (p.Tyr134Ser) n.376A>C c.479A>C (p.Tyr160Ser) | |
| 19 | g.7267597A>C | CA403159566 | INSR | c.400T>G (p.Tyr134Asp) n.375T>G c.478T>G (p.Tyr160Asp) | |
| 19 | g.7267597A>G | CA403159567 | INSR | c.400T>C (p.Tyr134His) n.375T>C c.478T>C (p.Tyr160His) | gnomAD v4 |
| 19 | g.7267597A>T | CA403159568 | INSR | c.400T>A (p.Tyr134Asn) n.375T>A c.478T>A (p.Tyr160Asn) | |
| 19 | g.7267598G>A | CA505481858 | INSR | c.399C>T (p.Leu133=) n.374C>T c.477C>T (p.Leu159=) | |
| 19 | g.7267598G>C | CA505481859 | INSR | c.399C>G (p.Leu133=) n.374C>G c.477C>G (p.Leu159=) | |
| 19 | g.7267598G>T | CA505481860 | INSR | c.399C>A (p.Leu133=) n.374C>A c.477C>A (p.Leu159=) | |
| 19 | g.7267599A>C | CA403159569 | INSR | c.398T>G (p.Leu133Arg) n.373T>G c.476T>G (p.Leu159Arg) | |
| 19 | g.7267599A>G | CA403159570 | INSR | c.398T>C (p.Leu133Pro) n.373T>C c.476T>C (p.Leu159Pro) | |
| 19 | g.7267599A>T | CA403159571 | INSR | c.398T>A (p.Leu133His) n.373T>A c.476T>A (p.Leu159His) | |
| 19 | g.7267600G>A | CA403159572 | INSR | c.397C>T (p.Leu133Phe) n.372C>T c.475C>T (p.Leu159Phe) | dbSNP gnomAD v2 |
| 19 | g.7267600G>C | CA403159573 | INSR | c.397C>G (p.Leu133Val) n.372C>G c.475C>G (p.Leu159Val) | |
| 19 | g.7267600G= | CA2320836476 | INSR | c.397C= (p.Leu133=) n.372C= c.475C= (p.Leu159=) | |
| 19 | g.7267600G>T | CA403159574 | INSR | c.397C>A (p.Leu133Ile) n.372C>A c.475C>A (p.Leu159Ile) | |
| 19 | g.7267601G>A | CA9136128 | INSR | c.396C>T (p.Gly132=) n.371C>T c.474C>T (p.Gly158=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267601G>C | CA505481862 | INSR | c.396C>G (p.Gly132=) n.371C>G c.474C>G (p.Gly158=) | |
| 19 | g.7267601G= | CA2320836477 | INSR | c.396C= (p.Gly132=) n.371C= c.474C= (p.Gly158=) | |
| 19 | g.7267601G>T | CA505481861 | INSR | c.396C>A (p.Gly132=) n.371C>A c.474C>A (p.Gly158=) | |
| 19 | g.7267602C>A | CA403159577 | INSR | c.395G>T (p.Gly132Val) n.370G>T c.473G>T (p.Gly158Val) | |
| 19 | g.7267602C>G | CA403159575 | INSR | c.395G>C (p.Gly132Ala) n.370G>C c.473G>C (p.Gly158Ala) | |
| 19 | g.7267602C>T | CA403159576 | INSR | c.395G>A (p.Gly132Asp) n.370G>A c.473G>A (p.Gly158Asp) | gnomAD v4 |
| 19 | g.7267603C>A | CA403159578 | INSR | c.394G>T (p.Gly132Cys) n.369G>T c.472G>T (p.Gly158Cys) | |
| 19 | g.7267603C= | CA2320836478 | INSR | c.394G= (p.Gly132=) n.369G= c.472G= (p.Gly158=) | |
| 19 | g.7267603C>G | CA403159579 | INSR | c.394G>C (p.Gly132Arg) n.369G>C c.472G>C (p.Gly158Arg) | gnomAD v4 |
| 19 | g.7267603C>T | CA10575769 | INSR | c.394G>A (p.Gly132Ser) n.369G>A c.472G>A (p.Gly158Ser) | ClinVar dbSNP |
| 19 | g.7267604G>A | CA9136129 | INSR | c.393C>T (p.Leu131=) n.368C>T c.471C>T (p.Leu157=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267604G>C | CA505481863 | INSR | c.393C>G (p.Leu131=) n.368C>G c.471C>G (p.Leu157=) | |
| 19 | g.7267604G= | CA2320836479 | INSR | c.393C= (p.Leu131=) n.368C= c.471C= (p.Leu157=) | |
| 19 | g.7267604G>T | CA505481864 | INSR | c.393C>A (p.Leu131=) n.368C>A c.471C>A (p.Leu157=) | |
| 19 | g.7267605A>C | CA403159580 | INSR | c.392T>G (p.Leu131Arg) n.367T>G c.470T>G (p.Leu157Arg) | gnomAD v4 |
| 19 | g.7267605A>G | CA403159581 | INSR | c.392T>C (p.Leu131Pro) n.367T>C c.470T>C (p.Leu157Pro) | |
| 19 | g.7267605A>T | CA403159582 | INSR | c.392T>A (p.Leu131His) n.367T>A c.470T>A (p.Leu157His) | gnomAD v4 |
| 19 | g.7267606G>A | CA403159583 | INSR | c.391C>T (p.Leu131Phe) n.366C>T c.469C>T (p.Leu157Phe) | gnomAD v4 |
| 19 | g.7267606G>C | CA403159584 | INSR | c.391C>G (p.Leu131Val) n.366C>G c.469C>G (p.Leu157Val) | |
| 19 | g.7267606G>T | CA403159585 | INSR | c.391C>A (p.Leu131Ile) n.366C>A c.469C>A (p.Leu157Ile) | |
| 19 | g.7267607T>A | CA403159586 | INSR | c.390A>T (p.Glu130Asp) n.365A>T c.468A>T (p.Glu156Asp) | |
| 19 | g.7267607T>C | CA505481865 | INSR | c.390A>G (p.Glu130=) n.365A>G c.468A>G (p.Glu156=) | |
| 19 | g.7267607T>G | CA403159587 | INSR | c.390A>C (p.Glu130Asp) n.365A>C c.468A>C (p.Glu156Asp) | |
| 19 | g.7267608T>A | CA403159590 | INSR | c.389A>T (p.Glu130Val) n.364A>T c.467A>T (p.Glu156Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267608T>C | CA403159589 | INSR | c.389A>G (p.Glu130Gly) n.364A>G c.467A>G (p.Glu156Gly) | |
| 19 | g.7267608T>G | CA403159588 | INSR | c.389A>C (p.Glu130Ala) n.364A>C c.467A>C (p.Glu156Ala) | |
| 19 | g.7267608T= | CA2320836480 | INSR | c.389A= (p.Glu130=) n.364A= c.467A= (p.Glu156=) | |
| 19 | g.7267609C>A | CA403159591 | INSR | c.388G>T (p.Glu130Ter) n.363G>T c.466G>T (p.Glu156Ter) | |
| 19 | g.7267609C>G | CA403159593 | INSR | c.388G>C (p.Glu130Gln) n.363G>C c.466G>C (p.Glu156Gln) | |
| 19 | g.7267609C>T | CA403159592 | INSR | c.388G>A (p.Glu130Lys) n.363G>A c.466G>A (p.Glu156Lys) | |
| 19 | g.7267610C>A | CA403159594 | INSR | c.387G>T (p.Lys129Asn) n.362G>T c.465G>T (p.Lys155Asn) | |
| 19 | g.7267610C>G | CA403159595 | INSR | c.387G>C (p.Lys129Asn) n.362G>C c.465G>C (p.Lys155Asn) | |
| 19 | g.7267610C>T | CA505481866 | INSR | c.387G>A (p.Lys129=) n.362G>A c.465G>A (p.Lys155=) | |
| 19 | g.7267611T>A | CA403159596 | INSR | c.386A>T (p.Lys129Met) n.361A>T c.464A>T (p.Lys155Met) | |
| 19 | g.7267611T>C | CA403159597 | INSR | c.386A>G (p.Lys129Arg) n.361A>G c.464A>G (p.Lys155Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267611T>G | CA403159598 | INSR | c.386A>C (p.Lys129Thr) n.361A>C c.464A>C (p.Lys155Thr) | |
| 19 | g.7267611T= | CA2320836481 | INSR | c.386A= (p.Lys129=) n.361A= c.464A= (p.Lys155=) | |
| 19 | g.7267612T>A | CA403159599 | INSR | c.385A>T (p.Lys129Ter) n.360A>T c.463A>T (p.Lys155Ter) | dbSNP |
| 19 | g.7267612T>C | CA403159600 | INSR | c.385A>G (p.Lys129Glu) n.360A>G c.463A>G (p.Lys155Glu) | |
| 19 | g.7267612T>G | CA403159601 | INSR | c.385A>C (p.Lys129Gln) n.360A>C c.463A>C (p.Lys155Gln) | |
| 19 | g.7267612T= | CA2320836482 | INSR | c.385A= (p.Lys129=) n.360A= c.463A= (p.Lys155=) | |
| 19 | g.7267613G>A | CA505481869 | INSR | c.384C>T (p.Leu128=) n.359C>T c.462C>T (p.Leu154=) | |
| 19 | g.7267613G>C | CA505481868 | INSR | c.384C>G (p.Leu128=) n.359C>G c.462C>G (p.Leu154=) | |
| 19 | g.7267613G>T | CA505481867 | INSR | c.384C>A (p.Leu128=) n.359C>A c.462C>A (p.Leu154=) | |
| 19 | g.7267614A>C | CA403159602 | INSR | c.383T>G (p.Leu128Arg) n.358T>G c.461T>G (p.Leu154Arg) | |
| 19 | g.7267614A>G | CA403159603 | INSR | c.383T>C (p.Leu128Pro) n.358T>C c.461T>C (p.Leu154Pro) | |
| 19 | g.7267614A>T | CA403159604 | INSR | c.383T>A (p.Leu128His) n.358T>A c.461T>A (p.Leu154His) | |
| 19 | g.7267615G>A | CA403159605 | INSR | c.382C>T (p.Leu128Phe) n.357C>T c.460C>T (p.Leu154Phe) | |
| 19 | g.7267615G>C | CA403159606 | INSR | c.382C>G (p.Leu128Val) n.357C>G c.460C>G (p.Leu154Val) | gnomAD v4 |
| 19 | g.7267615G>T | CA403159607 | INSR | c.382C>A (p.Leu128Ile) n.357C>A c.460C>A (p.Leu154Ile) | |
| 19 | g.7267616G>A | CA9136130 | INSR | c.381C>T (p.His127=) n.356C>T c.459C>T (p.His153=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.7267616G>C | CA403159608 | INSR | c.381C>G (p.His127Gln) n.356C>G c.459C>G (p.His153Gln) | gnomAD v4 |
| 19 | g.7267616G= | CA2320836483 | INSR | c.381C= (p.His127=) n.356C= c.459C= (p.His153=) | |
| 19 | g.7267616G>T | CA403159609 | INSR | c.381C>A (p.His127Gln) n.356C>A c.459C>A (p.His153Gln) | |
| 19 | g.7267617T>A | CA403159610 | INSR | c.380A>T (p.His127Leu) n.355A>T c.458A>T (p.His153Leu) | |
| 19 | g.7267617T>C | CA403159611 | INSR | c.380A>G (p.His127Arg) n.355A>G c.458A>G (p.His153Arg) | |
| 19 | g.7267617T>G | CA403159612 | INSR | c.380A>C (p.His127Pro) n.355A>C c.458A>C (p.His153Pro) |