Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |