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