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.7184308G>A | CA2587926204 | INSR | c.974+8C>T (n.974+8C>T) n.949+8C>T c.1052+8C>T (n.1052+8C>T) | gnomAD v4 |
| 19 | g.7184313C>A | CA2587926205 | INSR | c.974+3G>T (n.974+3G>T) n.949+3G>T c.1052+3G>T (n.1052+3G>T) | gnomAD v4 |
| 19 | g.7184314A>C | CA403669581 | INSR | c.974+2T>G (n.974+2T>G) n.949+2T>G c.1052+2T>G (n.1052+2T>G) | |
| 19 | g.7184314A>G | CA403669583 | INSR | c.974+2T>C (n.974+2T>C) n.949+2T>C c.1052+2T>C (n.1052+2T>C) | |
| 19 | g.7184314A>T | CA403669586 | INSR | c.974+2T>A (n.974+2T>A) n.949+2T>A c.1052+2T>A (n.1052+2T>A) | |
| 19 | g.7184315C>A | CA403669589 | INSR | c.974+1G>T (n.974+1G>T) n.949+1G>T c.1052+1G>T (n.1052+1G>T) | |
| 19 | g.7184315C>G | CA403669591 | INSR | c.974+1G>C (n.974+1G>C) n.949+1G>C c.1052+1G>C (n.1052+1G>C) | |
| 19 | g.7184315C>T | CA403669593 | INSR | c.974+1G>A (n.974+1G>A) n.949+1G>A c.1052+1G>A (n.1052+1G>A) | |
| 19 | g.7184316T>A | CA403669597 | INSR | c.974A>T (p.Asn325Ile) n.949A>T c.1052A>T (p.Asn351Ile) | gnomAD v4 |
| 19 | g.7184316T>C | CA403669600 | INSR | c.974A>G (p.Asn325Ser) n.949A>G c.1052A>G (p.Asn351Ser) | |
| 19 | g.7184316T>G | CA403669602 | INSR | c.974A>C (p.Asn325Thr) n.949A>C c.1052A>C (p.Asn351Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184316T= | CA2320796090 | INSR | c.974A= (p.Asn325=) n.949A= c.1052A= (p.Asn351=) | |
| 19 | g.7184317T>A | CA403669608 | INSR | c.973A>T (p.Asn325Tyr) n.948A>T c.1051A>T (p.Asn351Tyr) | |
| 19 | g.7184317T>C | CA403669610 | INSR | c.973A>G (p.Asn325Asp) n.948A>G c.1051A>G (p.Asn351Asp) | |
| 19 | g.7184317T>G | CA403669605 | INSR | c.973A>C (p.Asn325His) n.948A>C c.1051A>C (p.Asn351His) | |
| 19 | g.7184318G>A | CA505400307 | INSR | c.972C>T (p.Ser324=) n.947C>T c.1050C>T (p.Ser350=) | |
| 19 | g.7184318G>C | CA403669613 | INSR | c.972C>G (p.Ser324Arg) n.947C>G c.1050C>G (p.Ser350Arg) | |
| 19 | g.7184318G>T | CA403669615 | INSR | c.972C>A (p.Ser324Arg) n.947C>A c.1050C>A (p.Ser350Arg) | |
| 19 | g.7184319C>A | CA403669618 | INSR | c.971G>T (p.Ser324Ile) n.946G>T c.1049G>T (p.Ser350Ile) | |
| 19 | g.7184319C= | CA2320796091 | INSR | c.971G= (p.Ser324=) n.946G= c.1049G= (p.Ser350=) | |
| 19 | g.7184319C>G | CA403669620 | INSR | c.971G>C (p.Ser324Thr) n.946G>C c.1049G>C (p.Ser350Thr) | |
| 19 | g.7184319C>T | CA403669622 | INSR | c.971G>A (p.Ser324Asn) n.946G>A c.1049G>A (p.Ser350Asn) | dbSNP gnomAD v4 |
| 19 | g.7184320T>A | CA403669626 | INSR | c.970A>T (p.Ser324Cys) n.945A>T c.1048A>T (p.Ser350Cys) | |
| 19 | g.7184320T>C | CA304866404 | INSR | c.970A>G (p.Ser324Gly) n.945A>G c.1048A>G (p.Ser350Gly) | dbSNP gnomAD v4 |
| 19 | g.7184320T>G | CA403669627 | INSR | c.970A>C (p.Ser324Arg) n.945A>C c.1048A>C (p.Ser350Arg) | |
| 19 | g.7184320T= | CA2320796094 | INSR | c.970A= (p.Ser324=) n.945A= c.1048A= (p.Ser350=) | |
| 19 | g.7184321G>A | CA9135976 | INSR | c.969C>T (p.Ser323=) n.944C>T c.1047C>T (p.Ser349=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184321G>C | CA505400308 | INSR | c.969C>G (p.Ser323=) n.944C>G c.1047C>G (p.Ser349=) | |
| 19 | g.7184321G= | CA2320796096 | INSR | c.969C= (p.Ser323=) n.944C= c.1047C= (p.Ser349=) | |
| 19 | g.7184321G>T | CA505400309 | INSR | c.969C>A (p.Ser323=) n.944C>A c.1047C>A (p.Ser349=) | |
| 19 | g.7184322G>A | CA403669628 | INSR | c.968C>T (p.Ser323Phe) n.943C>T c.1046C>T (p.Ser349Phe) | dbSNP |
| 19 | g.7184322G>C | CA403669629 | INSR | c.968C>G (p.Ser323Cys) n.943C>G c.1046C>G (p.Ser349Cys) | |
| 19 | g.7184322G= | CA2320796100 | INSR | c.968C= (p.Ser323=) n.943C= c.1046C= (p.Ser349=) | |
| 19 | g.7184322G>T | CA403669630 | INSR | c.968C>A (p.Ser323Tyr) n.943C>A c.1046C>A (p.Ser349Tyr) | |
| 19 | g.7184323A>C | CA403669632 | INSR | c.967T>G (p.Ser323Ala) n.942T>G c.1045T>G (p.Ser349Ala) | |
| 19 | g.7184323A>G | CA403669633 | INSR | c.967T>C (p.Ser323Pro) n.942T>C c.1045T>C (p.Ser349Pro) | |
| 19 | g.7184323A>T | CA403669631 | INSR | c.967T>A (p.Ser323Thr) n.942T>A c.1045T>A (p.Ser349Thr) | |
| 19 | g.7184324A>C | CA403669634 | INSR | c.966T>G (p.Asn322Lys) n.941T>G c.1044T>G (p.Asn348Lys) | |
| 19 | g.7184324A>G | CA505400310 | INSR | c.966T>C (p.Asn322=) n.941T>C c.1044T>C (p.Asn348=) | |
| 19 | g.7184324A>T | CA403669635 | INSR | c.966T>A (p.Asn322Lys) n.941T>A c.1044T>A (p.Asn348Lys) | gnomAD v4 |
| 19 | g.7184325T>A | CA403669636 | INSR | c.965A>T (p.Asn322Ile) n.940A>T c.1043A>T (p.Asn348Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7184325T>C | CA403669637 | INSR | c.965A>G (p.Asn322Ser) n.940A>G c.1043A>G (p.Asn348Ser) | |
| 19 | g.7184325T>G | CA403669638 | INSR | c.965A>C (p.Asn322Thr) n.940A>C c.1043A>C (p.Asn348Thr) | |
| 19 | g.7184325T= | CA2320796101 | INSR | c.965A= (p.Asn322=) n.940A= c.1043A= (p.Asn348=) | |
| 19 | g.7184326T>A | CA403669641 | INSR | c.964A>T (p.Asn322Tyr) n.939A>T c.1042A>T (p.Asn348Tyr) | |
| 19 | g.7184326T>C | CA403669640 | INSR | c.964A>G (p.Asn322Asp) n.939A>G c.1042A>G (p.Asn348Asp) | |
| 19 | g.7184326T>G | CA403669639 | INSR | c.964A>C (p.Asn322His) n.939A>C c.1042A>C (p.Asn348His) | |
| 19 | g.7184327C>A | CA403669642 | INSR | c.963G>T (p.Met321Ile) n.938G>T c.1041G>T (p.Met347Ile) | |
| 19 | g.7184327C>G | CA403669643 | INSR | c.963G>C (p.Met321Ile) n.938G>C c.1041G>C (p.Met347Ile) | |
| 19 | g.7184327C>T | CA403669644 | INSR | c.963G>A (p.Met321Ile) n.938G>A c.1041G>A (p.Met347Ile) | |
| 19 | g.7184328A>C | CA403669645 | INSR | c.962T>G (p.Met321Arg) n.937T>G c.1040T>G (p.Met347Arg) | |
| 19 | g.7184328A>G | CA403669646 | INSR | c.962T>C (p.Met321Thr) n.937T>C c.1040T>C (p.Met347Thr) | |
| 19 | g.7184328A>T | CA403669647 | INSR | c.962T>A (p.Met321Lys) n.937T>A c.1040T>A (p.Met347Lys) | gnomAD v4 |
| 19 | g.7184329T>A | CA403669648 | INSR | c.961A>T (p.Met321Leu) n.936A>T c.1039A>T (p.Met347Leu) | |
| 19 | g.7184329T>C | CA403669650 | INSR | c.961A>G (p.Met321Val) n.936A>G c.1039A>G (p.Met347Val) | |
| 19 | g.7184329T>G | CA403669649 | INSR | c.961A>C (p.Met321Leu) n.936A>C c.1039A>C (p.Met347Leu) | |
| 19 | g.7184330C>A | CA505400311 | INSR | c.960G>T (p.Thr320=) n.935G>T c.1038G>T (p.Thr346=) | |
| 19 | g.7184330C= | CA2320796102 | INSR | c.960G= (p.Thr320=) n.935G= c.1038G= (p.Thr346=) | |
| 19 | g.7184330C>G | CA505400312 | INSR | c.960G>C (p.Thr320=) n.935G>C c.1038G>C (p.Thr346=) | |
| 19 | g.7184330C>T | CA9135977 | INSR | c.960G>A (p.Thr320=) n.935G>A c.1038G>A (p.Thr346=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184331G>A | CA206180 | INSR | c.959C>T (p.Thr320Met) n.934C>T c.1037C>T (p.Thr346Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7184331G>C | CA403669651 | INSR | c.959C>G (p.Thr320Arg) n.934C>G c.1037C>G (p.Thr346Arg) | |
| 19 | g.7184331G= | CA2320796103 | INSR | c.959C= (p.Thr320=) n.934C= c.1037C= (p.Thr346=) | |
| 19 | g.7184331G>T | CA403669652 | INSR | c.959C>A (p.Thr320Lys) n.934C>A c.1037C>A (p.Thr346Lys) | COSMIC COSMIC |
| 19 | g.7184332T>A | CA403669653 | INSR | c.958A>T (p.Thr320Ser) n.933A>T c.1036A>T (p.Thr346Ser) | |
| 19 | g.7184332T>C | CA403669654 | INSR | c.958A>G (p.Thr320Ala) n.933A>G c.1036A>G (p.Thr346Ala) | |
| 19 | g.7184332T>G | CA403669655 | INSR | c.958A>C (p.Thr320Pro) n.933A>C c.1036A>C (p.Thr346Pro) | |
| 19 | g.7184333G>A | CA505400313 | INSR | c.957C>T (p.Tyr319=) n.932C>T c.1035C>T (p.Tyr345=) | gnomAD v4 |
| 19 | g.7184333G>C | CA403669657 | INSR | c.957C>G (p.Tyr319Ter) n.932C>G c.1035C>G (p.Tyr345Ter) | |
| 19 | g.7184333G>T | CA403669656 | INSR | c.957C>A (p.Tyr319Ter) n.932C>A c.1035C>A (p.Tyr345Ter) | |
| 19 | g.7184334T>A | CA403669658 | INSR | c.956A>T (p.Tyr319Phe) n.931A>T c.1034A>T (p.Tyr345Phe) | |
| 19 | g.7184334T>C | CA403669659 | INSR | c.956A>G (p.Tyr319Cys) n.931A>G c.1034A>G (p.Tyr345Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184334T>G | CA403669660 | INSR | c.956A>C (p.Tyr319Ser) n.931A>C c.1034A>C (p.Tyr345Ser) | |
| 19 | g.7184334T= | CA2320796104 | INSR | c.956A= (p.Tyr319=) n.931A= c.1034A= (p.Tyr345=) | |
| 19 | g.7184335A>C | CA403669661 | INSR | c.955T>G (p.Tyr319Asp) n.930T>G c.1033T>G (p.Tyr345Asp) | |
| 19 | g.7184335A>G | CA403669662 | INSR | c.955T>C (p.Tyr319His) n.930T>C c.1033T>C (p.Tyr345His) | gnomAD v4 |
| 19 | g.7184335A>T | CA403669663 | INSR | c.955T>A (p.Tyr319Asn) n.930T>A c.1033T>A (p.Tyr345Asn) | |
| 19 | g.7184336C>A | CA505400314 | INSR | c.954G>T (p.Gly318=) n.929G>T c.1032G>T (p.Gly344=) | |
| 19 | g.7184336C>G | CA505400315 | INSR | c.954G>C (p.Gly318=) n.929G>C c.1032G>C (p.Gly344=) | |
| 19 | g.7184336C>T | CA505400316 | INSR | c.954G>A (p.Gly318=) n.929G>A c.1032G>A (p.Gly344=) | |
| 19 | g.7184337C>A | CA403669666 | INSR | c.953G>T (p.Gly318Val) n.928G>T c.1031G>T (p.Gly344Val) | |
| 19 | g.7184337C>G | CA403669664 | INSR | c.953G>C (p.Gly318Ala) n.928G>C c.1031G>C (p.Gly344Ala) | |
| 19 | g.7184337C>T | CA403669665 | INSR | c.953G>A (p.Gly318Glu) n.928G>A c.1031G>A (p.Gly344Glu) | |
| 19 | g.7184338C>A | CA403669667 | INSR | c.952G>T (p.Gly318Trp) n.927G>T c.1030G>T (p.Gly344Trp) | |
| 19 | g.7184338C= | CA2320796105 | INSR | c.952G= (p.Gly318=) n.927G= c.1030G= (p.Gly344=) | |
| 19 | g.7184338C>G | CA403669668 | INSR | c.952G>C (p.Gly318Arg) n.927G>C c.1030G>C (p.Gly344Arg) | |
| 19 | g.7184338C>T | CA9135978 | INSR | c.952G>A (p.Gly318Arg) n.927G>A c.1030G>A (p.Gly344Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184339G>A | CA9135979 | INSR | c.951C>T (p.Ser317=) n.926C>T c.1029C>T (p.Ser343=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184339G>C | CA505400317 | INSR | c.951C>G (p.Ser317=) n.926C>G c.1029C>G (p.Ser343=) | |
| 19 | g.7184339G= | CA2320796106 | INSR | c.951C= (p.Ser317=) n.926C= c.1029C= (p.Ser343=) | |
| 19 | g.7184339G>T | CA505400318 | INSR | c.951C>A (p.Ser317=) n.926C>A c.1029C>A (p.Ser343=) | |
| 19 | g.7184340G>A | CA403669669 | INSR | c.950C>T (p.Ser317Phe) n.925C>T c.1028C>T (p.Ser343Phe) | gnomAD v4 |
| 19 | g.7184340G>C | CA403669670 | INSR | c.950C>G (p.Ser317Cys) n.925C>G c.1028C>G (p.Ser343Cys) | |
| 19 | g.7184340G>T | CA403669671 | INSR | c.950C>A (p.Ser317Tyr) n.925C>A c.1028C>A (p.Ser343Tyr) | |
| 19 | g.7184341A= | CA2320796107 | INSR | c.949T= (p.Ser317=) n.924T= c.1027T= (p.Ser343=) | |
| 19 | g.7184341A>C | CA403669672 | INSR | c.949T>G (p.Ser317Ala) n.924T>G c.1027T>G (p.Ser343Ala) | |
| 19 | g.7184341A>G | CA403669673 | INSR | c.949T>C (p.Ser317Pro) n.924T>C c.1027T>C (p.Ser343Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184341A>T | CA403669674 | INSR | c.949T>A (p.Ser317Thr) n.924T>A c.1027T>A (p.Ser343Thr) | |
| 19 | g.7184342G>A | CA505400321 | INSR | c.948C>T (p.Pro316=) n.923C>T c.1026C>T (p.Pro342=) | |
| 19 | g.7184342G>C | CA505400320 | INSR | c.948C>G (p.Pro316=) n.923C>G c.1026C>G (p.Pro342=) | |
| 19 | g.7184342G>T | CA505400319 | INSR | c.948C>A (p.Pro316=) n.923C>A c.1026C>A (p.Pro342=) | |
| 19 | g.7184343G>A | CA403669675 | INSR | c.947C>T (p.Pro316Leu) n.922C>T c.1025C>T (p.Pro342Leu) | gnomAD v4 |
| 19 | g.7184343G>C | CA403669676 | INSR | c.947C>G (p.Pro316Arg) n.922C>G c.1025C>G (p.Pro342Arg) | |
| 19 | g.7184343G>T | CA403669677 | INSR | c.947C>A (p.Pro316His) n.922C>A c.1025C>A (p.Pro342His) | |
| 19 | g.7184344G>A | CA403669678 | INSR | c.946C>T (p.Pro316Ser) n.921C>T c.1024C>T (p.Pro342Ser) | |
| 19 | g.7184344G>C | CA403669680 | INSR | c.946C>G (p.Pro316Ala) n.921C>G c.1024C>G (p.Pro342Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7184344G= | CA2320796110 | INSR | c.946C= (p.Pro316=) n.921C= c.1024C= (p.Pro342=) | |
| 19 | g.7184344G>T | CA403669679 | INSR | c.946C>A (p.Pro316Thr) n.921C>A c.1024C>A (p.Pro342Thr) | |
| 19 | g.7184345A>C | CA403669681 | INSR | c.945T>G (p.Cys315Trp) n.920T>G c.1023T>G (p.Cys341Trp) | |
| 19 | g.7184345A>G | CA505400322 | INSR | c.945T>C (p.Cys315=) n.920T>C c.1023T>C (p.Cys341=) | |
| 19 | g.7184345A>T | CA403669682 | INSR | c.945T>A (p.Cys315Ter) n.920T>A c.1023T>A (p.Cys341Ter) | |
| 19 | g.7184346C>A | CA403669683 | INSR | c.944G>T (p.Cys315Phe) n.919G>T c.1022G>T (p.Cys341Phe) | |
| 19 | g.7184346C>G | CA403669684 | INSR | c.944G>C (p.Cys315Ser) n.919G>C c.1022G>C (p.Cys341Ser) | |
| 19 | g.7184346C>T | CA403669685 | INSR | c.944G>A (p.Cys315Tyr) n.919G>A c.1022G>A (p.Cys341Tyr) | |
| 19 | g.7184347A>C | CA403669686 | INSR | c.943T>G (p.Cys315Gly) n.918T>G c.1021T>G (p.Cys341Gly) | |
| 19 | g.7184347A>G | CA403669687 | INSR | c.943T>C (p.Cys315Arg) n.918T>C c.1021T>C (p.Cys341Arg) | |
| 19 | g.7184347A>T | CA403669688 | INSR | c.943T>A (p.Cys315Ser) n.918T>A c.1021T>A (p.Cys341Ser) | gnomAD v4 |
| 19 | g.7184348C>A | CA403669689 | INSR | c.942G>T (p.Glu314Asp) n.917G>T c.1020G>T (p.Glu340Asp) | |
| 19 | g.7184348C>G | CA403669690 | INSR | c.942G>C (p.Glu314Asp) n.917G>C c.1020G>C (p.Glu340Asp) | |
| 19 | g.7184348C>T | CA505400323 | INSR | c.942G>A (p.Glu314=) n.917G>A c.1020G>A (p.Glu340=) | |
| 19 | g.7184349T>A | CA403669691 | INSR | c.941A>T (p.Glu314Val) n.916A>T c.1019A>T (p.Glu340Val) | |
| 19 | g.7184349T>C | CA403669692 | INSR | c.941A>G (p.Glu314Gly) n.916A>G c.1019A>G (p.Glu340Gly) | |
| 19 | g.7184349T>G | CA403669693 | INSR | c.941A>C (p.Glu314Ala) n.916A>C c.1019A>C (p.Glu340Ala) | |
| 19 | g.7184350C>A | CA403669696 | INSR | c.940G>T (p.Glu314Ter) n.915G>T c.1018G>T (p.Glu340Ter) | |
| 19 | g.7184350C>G | CA403669694 | INSR | c.940G>C (p.Glu314Gln) n.915G>C c.1018G>C (p.Glu340Gln) | |
| 19 | g.7184350C>T | CA403669695 | INSR | c.940G>A (p.Glu314Lys) n.915G>A c.1018G>A (p.Glu340Lys) | |
| 19 | g.7184351A>C | CA505400324 | INSR | c.939T>G (p.Pro313=) n.914T>G c.1017T>G (p.Pro339=) | |
| 19 | g.7184351A>G | CA505400325 | INSR | c.939T>C (p.Pro313=) n.914T>C c.1017T>C (p.Pro339=) | |
| 19 | g.7184351A>T | CA505400326 | INSR | c.939T>A (p.Pro313=) n.914T>A c.1017T>A (p.Pro339=) | |
| 19 | g.7184352G>A | CA403669697 | INSR | c.938C>T (p.Pro313Leu) n.913C>T c.1016C>T (p.Pro339Leu) | |
| 19 | g.7184352G>C | CA403669698 | INSR | c.938C>G (p.Pro313Arg) n.913C>G c.1016C>G (p.Pro339Arg) | gnomAD v4 |
| 19 | g.7184352G>T | CA403669699 | INSR | c.938C>A (p.Pro313His) n.913C>A c.1016C>A (p.Pro339His) | COSMIC COSMIC |
| 19 | g.7184353G>A | CA403669700 | INSR | c.937C>T (p.Pro313Ser) n.912C>T c.1015C>T (p.Pro339Ser) | |
| 19 | g.7184353G>C | CA403669701 | INSR | c.937C>G (p.Pro313Ala) n.912C>G c.1015C>G (p.Pro339Ala) | |
| 19 | g.7184353G>T | CA403669702 | INSR | c.937C>A (p.Pro313Thr) n.912C>A c.1015C>A (p.Pro339Thr) | |
| 19 | g.7184354G>A | CA505400327 | INSR | c.936C>T (p.Ile312=) n.911C>T c.1014C>T (p.Ile338=) | ClinVar dbSNP COSMIC COSMIC |
| 19 | g.7184354G>C | CA403669703 | INSR | c.936C>G (p.Ile312Met) n.911C>G c.1014C>G (p.Ile338Met) | |
| 19 | g.7184354G= | CA2320796112 | INSR | c.936C= (p.Ile312=) n.911C= c.1014C= (p.Ile338=) | |
| 19 | g.7184354G>T | CA9135980 | INSR | c.936C>A (p.Ile312=) n.911C>A c.1014C>A (p.Ile338=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184355A>C | CA403669704 | INSR | c.935T>G (p.Ile312Ser) n.910T>G c.1013T>G (p.Ile338Ser) | |
| 19 | g.7184355A>G | CA403669705 | INSR | c.935T>C (p.Ile312Thr) n.910T>C c.1013T>C (p.Ile338Thr) | |
| 19 | g.7184355A>T | CA403669706 | INSR | c.935T>A (p.Ile312Asn) n.910T>A c.1013T>A (p.Ile338Asn) | |
| 19 | g.7184356T>A | CA403669707 | INSR | c.934A>T (p.Ile312Phe) n.909A>T c.1012A>T (p.Ile338Phe) | |
| 19 | g.7184356T>C | CA403669709 | INSR | c.934A>G (p.Ile312Val) n.909A>G c.1012A>G (p.Ile338Val) | |
| 19 | g.7184356T>G | CA403669708 | INSR | c.934A>C (p.Ile312Leu) n.909A>C c.1012A>C (p.Ile338Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7184356T= | CA2320796113 | INSR | c.934A= (p.Ile312=) n.909A= c.1012A= (p.Ile338=) | |
| 19 | g.7184357G>A | CA505400328 | INSR | c.933C>T (p.Cys311=) n.908C>T c.1011C>T (p.Cys337=) | dbSNP gnomAD v4 |
| 19 | g.7184357G>C | CA403669710 | INSR | c.933C>G (p.Cys311Trp) n.908C>G c.1011C>G (p.Cys337Trp) | |
| 19 | g.7184357G= | CA2320796114 | INSR | c.933C= (p.Cys311=) n.908C= c.1011C= (p.Cys337=) | |
| 19 | g.7184357G>T | CA403669711 | INSR | c.933C>A (p.Cys311Ter) n.908C>A c.1011C>A (p.Cys337Ter) | gnomAD v4 |
| 19 | g.7184358C>A | CA403669712 | INSR | c.932G>T (p.Cys311Phe) n.907G>T c.1010G>T (p.Cys337Phe) | |
| 19 | g.7184358C>G | CA403669713 | INSR | c.932G>C (p.Cys311Ser) n.907G>C c.1010G>C (p.Cys337Ser) | |
| 19 | g.7184358C>T | CA403669714 | INSR | c.932G>A (p.Cys311Tyr) n.907G>A c.1010G>A (p.Cys337Tyr) | |
| 19 | g.7184359A= | CA2320796115 | INSR | c.931T= (p.Cys311=) n.906T= c.1009T= (p.Cys337=) | |
| 19 | g.7184359A>C | CA403669715 | INSR | c.931T>G (p.Cys311Gly) n.906T>G c.1009T>G (p.Cys337Gly) | |
| 19 | g.7184359A>G | CA403669716 | INSR | c.931T>C (p.Cys311Arg) n.906T>C c.1009T>C (p.Cys337Arg) | dbSNP gnomAD v4 |
| 19 | g.7184359A>T | CA403669717 | INSR | c.931T>A (p.Cys311Ser) n.906T>A c.1009T>A (p.Cys337Ser) | |
| 19 | g.7184360C>A | CA403669718 | INSR | c.930G>T (p.Lys310Asn) n.905G>T c.1008G>T (p.Lys336Asn) | |
| 19 | g.7184360C>G | CA403669719 | INSR | c.930G>C (p.Lys310Asn) n.905G>C c.1008G>C (p.Lys336Asn) | |
| 19 | g.7184360C>T | CA505400329 | INSR | c.930G>A (p.Lys310=) n.905G>A c.1008G>A (p.Lys336=) | |
| 19 | g.7184360_7184363delinsCTTG | CA2320796116 | INSR | c.927_930delinsCAAG (p.Asn309=) n.902_905delinsCAAG c.1005_1008delinsCAAG (p.Asn335=) | |
| 19 | g.7184361T>A | CA403669720 | INSR | c.929A>T (p.Lys310Met) n.904A>T c.1007A>T (p.Lys336Met) | |
| 19 | g.7184361T>C | CA403669721 | INSR | c.929A>G (p.Lys310Arg) n.904A>G c.1007A>G (p.Lys336Arg) | gnomAD v4 |
| 19 | g.7184361T>G | CA403669722 | INSR | c.929A>C (p.Lys310Thr) n.904A>C c.1007A>C (p.Lys336Thr) | |
| 19 | g.7184368_7184370del | CA9135981 | INSR | c.927_929del (p.Asn309del) n.902_904del c.1005_1007del (p.Asn335del) | ClinVar dbSNP ExAC gnomAD v4 |
| 19 | g.7184362T>A | CA403669725 | INSR | c.928A>T (p.Lys310Ter) n.903A>T c.1006A>T (p.Lys336Ter) | |
| 19 | g.7184362T>C | CA403669723 | INSR | c.928A>G (p.Lys310Glu) n.903A>G c.1006A>G (p.Lys336Glu) | |
| 19 | g.7184362T>G | CA403669724 | INSR | c.928A>C (p.Lys310Gln) n.903A>C c.1006A>C (p.Lys336Gln) | |
| 19 | g.7184363G>A | CA9135982 | INSR | c.927C>T (p.Asn309=) n.902C>T c.1005C>T (p.Asn335=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184363G>C | CA403669726 | INSR | c.927C>G (p.Asn309Lys) n.902C>G c.1005C>G (p.Asn335Lys) | |
| 19 | g.7184363G= | CA2320796117 | INSR | c.927C= (p.Asn309=) n.902C= c.1005C= (p.Asn335=) | |
| 19 | g.7184363G>T | CA403669727 | INSR | c.927C>A (p.Asn309Lys) n.902C>A c.1005C>A (p.Asn335Lys) | |
| 19 | g.7184364T>A | CA403669728 | INSR | c.926A>T (p.Asn309Ile) n.901A>T c.1004A>T (p.Asn335Ile) | |
| 19 | g.7184364T>C | CA403669729 | INSR | c.926A>G (p.Asn309Ser) n.901A>G c.1004A>G (p.Asn335Ser) | gnomAD v4 |
| 19 | g.7184364T>G | CA403669730 | INSR | c.926A>C (p.Asn309Thr) n.901A>C c.1004A>C (p.Asn335Thr) | |
| 19 | g.7184365T>A | CA403669731 | INSR | c.925A>T (p.Asn309Tyr) n.900A>T c.1003A>T (p.Asn335Tyr) | |
| 19 | g.7184365T>C | CA403669732 | INSR | c.925A>G (p.Asn309Asp) n.900A>G c.1003A>G (p.Asn335Asp) | |
| 19 | g.7184365T>G | CA403669733 | INSR | c.925A>C (p.Asn309His) n.900A>C c.1003A>C (p.Asn335His) | |
| 19 | g.7184366G>A | CA505400330 | INSR | c.924C>T (p.Asn308=) n.899C>T c.1002C>T (p.Asn334=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184366G>C | CA403669734 | INSR | c.924C>G (p.Asn308Lys) n.899C>G c.1002C>G (p.Asn334Lys) | |
| 19 | g.7184366G= | CA2320796118 | INSR | c.924C= (p.Asn308=) n.899C= c.1002C= (p.Asn334=) | |
| 19 | g.7184366G>T | CA403669735 | INSR | c.924C>A (p.Asn308Lys) n.899C>A c.1002C>A (p.Asn334Lys) | |
| 19 | g.7184367T>A | CA403669738 | INSR | c.923A>T (p.Asn308Ile) n.898A>T c.1001A>T (p.Asn334Ile) | |
| 19 | g.7184367T>C | CA403669737 | INSR | c.923A>G (p.Asn308Ser) n.898A>G c.1001A>G (p.Asn334Ser) | |
| 19 | g.7184367T>G | CA403669736 | INSR | c.923A>C (p.Asn308Thr) n.898A>C c.1001A>C (p.Asn334Thr) | |
| 19 | g.7184367_7184369delinsTTG | CA2320796119 | INSR | c.921_923delinsCAA (p.His307=) n.896_898delinsCAA c.999_1001delinsCAA (p.His333=) | |
| 19 | g.7184368T>A | CA403669739 | INSR | c.922A>T (p.Asn308Tyr) n.897A>T c.1000A>T (p.Asn334Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184368T>C | CA403669740 | INSR | c.922A>G (p.Asn308Asp) n.897A>G c.1000A>G (p.Asn334Asp) | |
| 19 | g.7184368T>G | CA403669741 | INSR | c.922A>C (p.Asn308His) n.897A>C c.1000A>C (p.Asn334His) | |
| 19 | g.7184368T= | CA2320796122 | INSR | c.922A= (p.Asn308=) n.897A= c.1000A= (p.Asn334=) | |
| 19 | g.7184370_7184371del | CA631723680 | INSR | c.921_922del (p.His307GlnfsTer7) n.896_897del c.999_1000del (p.His333GlnfsTer7) | dbSNP gnomAD v2 |
| 19 | g.7184369G>A | CA505400331 | INSR | c.921C>T (p.His307=) n.896C>T c.999C>T (p.His333=) | dbSNP |
| 19 | g.7184369G>C | CA403669742 | INSR | c.921C>G (p.His307Gln) n.896C>G c.999C>G (p.His333Gln) | |
| 19 | g.7184369G= | CA2320796124 | INSR | c.921C= (p.His307=) n.896C= c.999C= (p.His333=) | |
| 19 | g.7184369G>T | CA403669743 | INSR | c.921C>A (p.His307Gln) n.896C>A c.999C>A (p.His333Gln) | |
| 19 | g.7184370T>A | CA403669744 | INSR | c.920A>T (p.His307Leu) n.895A>T c.998A>T (p.His333Leu) | |
| 19 | g.7184370T>C | CA403669745 | INSR | c.920A>G (p.His307Arg) n.895A>G c.998A>G (p.His333Arg) | |
| 19 | g.7184370T>G | CA403669746 | INSR | c.920A>C (p.His307Pro) n.895A>C c.998A>C (p.His333Pro) | |
| 19 | g.7184371G>A | CA403669747 | INSR | c.919C>T (p.His307Tyr) n.894C>T c.997C>T (p.His333Tyr) | |
| 19 | g.7184371G>C | CA403669748 | INSR | c.919C>G (p.His307Asp) n.894C>G c.997C>G (p.His333Asp) | |
| 19 | g.7184371G= | CA2320796126 | INSR | c.919C= (p.His307=) n.894C= c.997C= (p.His333=) | |
| 19 | g.7184371G>T | CA403669749 | INSR | c.919C>A (p.His307Asn) n.894C>A c.997C>A (p.His333Asn) | dbSNP |
| 19 | g.7184372A>C | CA403669750 | INSR | c.918T>G (p.Ile306Met) n.893T>G c.996T>G (p.Ile332Met) | |
| 19 | g.7184372A>G | CA505400332 | INSR | c.918T>C (p.Ile306=) n.893T>C c.996T>C (p.Ile332=) | |
| 19 | g.7184372A>T | CA505400333 | INSR | c.918T>A (p.Ile306=) n.893T>A c.996T>A (p.Ile332=) | |
| 19 | g.7184373A>C | CA403669753 | INSR | c.917T>G (p.Ile306Ser) n.892T>G c.995T>G (p.Ile332Ser) | |
| 19 | g.7184373A>G | CA403669752 | INSR | c.917T>C (p.Ile306Thr) n.892T>C c.995T>C (p.Ile332Thr) | |
| 19 | g.7184373A>T | CA403669751 | INSR | c.917T>A (p.Ile306Asn) n.892T>A c.995T>A (p.Ile332Asn) | |
| 19 | g.7184374T>A | CA403669754 | INSR | c.916A>T (p.Ile306Phe) n.891A>T c.994A>T (p.Ile332Phe) | |
| 19 | g.7184374T>C | CA403669755 | INSR | c.916A>G (p.Ile306Val) n.891A>G c.994A>G (p.Ile332Val) | |
| 19 | g.7184374T>G | CA403669756 | INSR | c.916A>C (p.Ile306Leu) n.891A>C c.994A>C (p.Ile332Leu) | |
| 19 | g.7184375G>A | CA505400334 | INSR | c.915C>T (p.Val305=) n.890C>T c.993C>T (p.Val331=) | |
| 19 | g.7184375G>C | CA9135983 | INSR | c.915C>G (p.Val305=) n.890C>G c.993C>G (p.Val331=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184375G= | CA2320796127 | INSR | c.915C= (p.Val305=) n.890C= c.993C= (p.Val331=) | |
| 19 | g.7184375G>T | CA505400335 | INSR | c.915C>A (p.Val305=) n.890C>A c.993C>A (p.Val331=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184376A>C | CA403669757 | INSR | c.914T>G (p.Val305Gly) n.889T>G c.992T>G (p.Val331Gly) | |
| 19 | g.7184376A>G | CA403669758 | INSR | c.914T>C (p.Val305Ala) n.889T>C c.992T>C (p.Val331Ala) | |
| 19 | g.7184376A>T | CA403669759 | INSR | c.914T>A (p.Val305Asp) n.889T>A c.992T>A (p.Val331Asp) | |
| 19 | g.7184377C>A | CA403669760 | INSR | c.913G>T (p.Val305Phe) n.888G>T c.991G>T (p.Val331Phe) | |
| 19 | g.7184377C= | CA2320796128 | INSR | c.913G= (p.Val305=) n.888G= c.991G= (p.Val331=) | |
| 19 | g.7184377C>G | CA403669761 | INSR | c.913G>C (p.Val305Leu) n.888G>C c.991G>C (p.Val331Leu) | |
| 19 | g.7184377C>T | CA304866454 | INSR | c.913G>A (p.Val305Ile) n.888G>A c.991G>A (p.Val331Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184378G>A | CA304866459 | INSR | c.912C>T (p.Tyr304=) n.887C>T c.990C>T (p.Tyr330=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7184378G>C | CA403669762 | INSR | c.912C>G (p.Tyr304Ter) n.887C>G c.990C>G (p.Tyr330Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7184378G= | CA2320796132 | INSR | c.912C= (p.Tyr304=) n.887C= c.990C= (p.Tyr330=) | |
| 19 | g.7184378G>T | CA403669763 | INSR | c.912C>A (p.Tyr304Ter) n.887C>A c.990C>A (p.Tyr330Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184379T>A | CA403669765 | INSR | c.911A>T (p.Tyr304Phe) n.886A>T c.989A>T (p.Tyr330Phe) | |
| 19 | g.7184379T>C | CA9135984 | INSR | c.911A>G (p.Tyr304Cys) n.886A>G c.989A>G (p.Tyr330Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184379T>G | CA403669764 | INSR | c.911A>C (p.Tyr304Ser) n.886A>C c.989A>C (p.Tyr330Ser) | |
| 19 | g.7184379T= | CA2320796133 | INSR | c.911A= (p.Tyr304=) n.886A= c.989A= (p.Tyr330=) | |
| 19 | g.7184380A>C | CA403669766 | INSR | c.910T>G (p.Tyr304Asp) n.885T>G c.988T>G (p.Tyr330Asp) | |
| 19 | g.7184380A>G | CA403669768 | INSR | c.910T>C (p.Tyr304His) n.885T>C c.988T>C (p.Tyr330His) | |
| 19 | g.7184380A>T | CA403669767 | INSR | c.910T>A (p.Tyr304Asn) n.885T>A c.988T>A (p.Tyr330Asn) | |
| 19 | g.7184381C>A | CA9135986 | INSR | c.909G>T (p.Gln303His) n.884G>T c.987G>T (p.Gln329His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184381C= | CA2320796136 | INSR | c.909G= (p.Gln303=) n.884G= c.987G= (p.Gln329=) | |
| 19 | g.7184381C>G | CA403669769 | INSR | c.909G>C (p.Gln303His) n.884G>C c.987G>C (p.Gln329His) | |
| 19 | g.7184381C>T | CA9135985 | INSR | c.909G>A (p.Gln303=) n.884G>A c.987G>A (p.Gln329=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184382T>A | CA403669770 | INSR | c.908A>T (p.Gln303Leu) n.883A>T c.986A>T (p.Gln329Leu) | |
| 19 | g.7184382T>C | CA403669771 | INSR | c.908A>G (p.Gln303Arg) n.883A>G c.986A>G (p.Gln329Arg) | |
| 19 | g.7184382T>G | CA403669772 | INSR | c.908A>C (p.Gln303Pro) n.883A>C c.986A>C (p.Gln329Pro) | |
| 19 | g.7184383G>A | CA403669773 | INSR | c.907C>T (p.Gln303Ter) n.882C>T c.985C>T (p.Gln329Ter) | |
| 19 | g.7184383G>C | CA403669774 | INSR | c.907C>G (p.Gln303Glu) n.882C>G c.985C>G (p.Gln329Glu) | |
| 19 | g.7184383G= | CA2320796137 | INSR | c.907C= (p.Gln303=) n.882C= c.985C= (p.Gln329=) | |
| 19 | g.7184383G>T | CA403669775 | INSR | c.907C>A (p.Gln303Lys) n.882C>A c.985C>A (p.Gln329Lys) | dbSNP gnomAD v4 |
| 19 | g.7184384G>A | CA505400336 | INSR | c.906C>T (p.His302=) n.881C>T c.984C>T (p.His328=) | |
| 19 | g.7184384G>C | CA403669776 | INSR | c.906C>G (p.His302Gln) n.881C>G c.984C>G (p.His328Gln) | |
| 19 | g.7184384G>T | CA403669777 | INSR | c.906C>A (p.His302Gln) n.881C>A c.984C>A (p.His328Gln) | |
| 19 | g.7184385T>A | CA403669778 | INSR | c.905A>T (p.His302Leu) n.880A>T c.983A>T (p.His328Leu) | |
| 19 | g.7184385T>C | CA403669779 | INSR | c.905A>G (p.His302Arg) n.880A>G c.983A>G (p.His328Arg) | |
| 19 | g.7184385T>G | CA403669780 | INSR | c.905A>C (p.His302Pro) n.880A>C c.983A>C (p.His328Pro) | |
| 19 | g.7184386G>A | CA403669781 | INSR | c.904C>T (p.His302Tyr) n.879C>T c.982C>T (p.His328Tyr) | |
| 19 | g.7184386G>C | CA403669782 | INSR | c.904C>G (p.His302Asp) n.879C>G c.982C>G (p.His328Asp) | |
| 19 | g.7184386G>T | CA403669783 | INSR | c.904C>A (p.His302Asn) n.879C>A c.982C>A (p.His328Asn) | |
| 19 | g.7184387G>A | CA505400337 | INSR | c.903C>T (p.Cys301=) n.878C>T c.981C>T (p.Cys327=) | gnomAD v4 |
| 19 | g.7184387G>C | CA403669784 | INSR | c.903C>G (p.Cys301Trp) n.878C>G c.981C>G (p.Cys327Trp) | |
| 19 | g.7184387G>T | CA403669785 | INSR | c.903C>A (p.Cys301Ter) n.878C>A c.981C>A (p.Cys327Ter) | |
| 19 | g.7184388C>A | CA403669786 | INSR | c.902G>T (p.Cys301Phe) n.877G>T c.980G>T (p.Cys327Phe) | |
| 19 | g.7184388C>G | CA403669787 | INSR | c.902G>C (p.Cys301Ser) n.877G>C c.980G>C (p.Cys327Ser) | |
| 19 | g.7184388C>T | CA403669788 | INSR | c.902G>A (p.Cys301Tyr) n.877G>A c.980G>A (p.Cys327Tyr) | gnomAD v4 |
| 19 | g.7184389del | CA2587926206 | INSR | c.901del (p.Cys301AlafsTer21) n.876del c.979del (p.Cys327AlafsTer21) | gnomAD v4 |
| 19 | g.7184389A>C | CA403669789 | INSR | c.901T>G (p.Cys301Gly) n.876T>G c.979T>G (p.Cys327Gly) | |
| 19 | g.7184389A>G | CA403669790 | INSR | c.901T>C (p.Cys301Arg) n.876T>C c.979T>C (p.Cys327Arg) | |
| 19 | g.7184389A>T | CA403669791 | INSR | c.901T>A (p.Cys301Ser) n.876T>A c.979T>A (p.Cys327Ser) | |
| 19 | g.7184390G>A | CA505400340 | INSR | c.900C>T (p.Gly300=) n.875C>T c.978C>T (p.Gly326=) | gnomAD v4 |
| 19 | g.7184390G>C | CA505400339 | INSR | c.900C>G (p.Gly300=) n.875C>G c.978C>G (p.Gly326=) | |
| 19 | g.7184390G>T | CA505400338 | INSR | c.900C>A (p.Gly300=) n.875C>A c.978C>A (p.Gly326=) | |
| 19 | g.7184391C>A | CA403669792 | INSR | c.899G>T (p.Gly300Val) n.874G>T c.977G>T (p.Gly326Val) | |
| 19 | g.7184391C= | CA2320796139 | INSR | c.899G= (p.Gly300=) n.874G= c.977G= (p.Gly326=) | |
| 19 | g.7184391C>G | CA403669793 | INSR | c.899G>C (p.Gly300Ala) n.874G>C c.977G>C (p.Gly326Ala) | |
| 19 | g.7184391C>T | CA403669794 | INSR | c.899G>A (p.Gly300Asp) n.874G>A c.977G>A (p.Gly326Asp) | dbSNP |
| 19 | g.7184392C>A | CA403669795 | INSR | c.898G>T (p.Gly300Cys) n.873G>T c.976G>T (p.Gly326Cys) | |
| 19 | g.7184392C>G | CA403669796 | INSR | c.898G>C (p.Gly300Arg) n.873G>C c.976G>C (p.Gly326Arg) | |
| 19 | g.7184392C>T | CA403669797 | INSR | c.898G>A (p.Gly300Ser) n.873G>A c.976G>A (p.Gly326Ser) | gnomAD v4 |
| 19 | g.7184393C>A | CA403669798 | INSR | c.897G>T (p.Gln299His) n.872G>T c.975G>T (p.Gln325His) | |
| 19 | g.7184393C>G | CA403669799 | INSR | c.897G>C (p.Gln299His) n.872G>C c.975G>C (p.Gln325His) | gnomAD v4 |
| 19 | g.7184393C>T | CA505400341 | INSR | c.897G>A (p.Gln299=) n.872G>A c.975G>A (p.Gln325=) | |
| 19 | g.7184394T>A | CA403669800 | INSR | c.896A>T (p.Gln299Leu) n.871A>T c.974A>T (p.Gln325Leu) | |
| 19 | g.7184394T>C | CA403669801 | INSR | c.896A>G (p.Gln299Arg) n.871A>G c.974A>G (p.Gln325Arg) | |
| 19 | g.7184394T>G | CA403669802 | INSR | c.896A>C (p.Gln299Pro) n.871A>C c.974A>C (p.Gln325Pro) | |
| 19 | g.7184395G>A | CA403669803 | INSR | c.895C>T (p.Gln299Ter) n.870C>T c.973C>T (p.Gln325Ter) | gnomAD v4 |
| 19 | g.7184395G>C | CA403669804 | INSR | c.895C>G (p.Gln299Glu) n.870C>G c.973C>G (p.Gln325Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7184395G= | CA2320796141 | INSR | c.895C= (p.Gln299=) n.870C= c.973C= (p.Gln325=) | |
| 19 | g.7184395G>T | CA403669805 | INSR | c.895C>A (p.Gln299Lys) n.870C>A c.973C>A (p.Gln325Lys) | |
| 19 | g.7184396C>A | CA403669807 | INSR | c.894G>T (p.Arg298Ser) n.869G>T c.972G>T (p.Arg324Ser) | |
| 19 | g.7184396C= | CA2320796142 | INSR | c.894G= (p.Arg298=) n.869G= c.972G= (p.Arg324=) | |
| 19 | g.7184396C>G | CA403669806 | INSR | c.894G>C (p.Arg298Ser) n.869G>C c.972G>C (p.Arg324Ser) | |
| 19 | g.7184396C>T | CA9135987 | INSR | c.894G>A (p.Arg298=) n.869G>A c.972G>A (p.Arg324=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184397C>A | CA403669808 | INSR | c.893G>T (p.Arg298Met) n.868G>T c.971G>T (p.Arg324Met) | |
| 19 | g.7184397C= | CA2320796143 | INSR | c.893G= (p.Arg298=) n.868G= c.971G= (p.Arg324=) | |
| 19 | g.7184397C>G | CA403669809 | INSR | c.893G>C (p.Arg298Thr) n.868G>C c.971G>C (p.Arg324Thr) | |
| 19 | g.7184397C>T | CA403669810 | INSR | c.893G>A (p.Arg298Lys) n.868G>A c.971G>A (p.Arg324Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184398T>A | CA403669811 | INSR | c.892A>T (p.Arg298Trp) n.867A>T c.970A>T (p.Arg324Trp) | |
| 19 | g.7184398T>C | CA403669812 | INSR | c.892A>G (p.Arg298Gly) n.867A>G c.970A>G (p.Arg324Gly) | gnomAD v4 |
| 19 | g.7184398T>G | CA505400342 | INSR | c.892A>C (p.Arg298=) n.867A>C c.970A>C (p.Arg324=) | |
| 19 | g.7184399C>A | CA505400344 | INSR | c.891G>T (p.Arg297=) n.866G>T c.969G>T (p.Arg323=) | |
| 19 | g.7184399C= | CA2320796145 | INSR | c.891G= (p.Arg297=) n.866G= c.969G= (p.Arg323=) | |
| 19 | g.7184399C>G | CA505400343 | INSR | c.891G>C (p.Arg297=) n.866G>C c.969G>C (p.Arg323=) | |
| 19 | g.7184399C>T | CA304866473 | INSR | c.891G>A (p.Arg297=) n.866G>A c.969G>A (p.Arg323=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184400C>A | CA403669813 | INSR | c.890G>T (p.Arg297Leu) n.865G>T c.968G>T (p.Arg323Leu) | COSMIC COSMIC |
| 19 | g.7184400C= | CA2320796148 | INSR | c.890G= (p.Arg297=) n.865G= c.968G= (p.Arg323=) | |
| 19 | g.7184400C>G | CA403669814 | INSR | c.890G>C (p.Arg297Pro) n.865G>C c.968G>C (p.Arg323Pro) | gnomAD v4 |
| 19 | g.7184400C>T | CA9135988 | INSR | c.890G>A (p.Arg297Gln) n.865G>A c.968G>A (p.Arg323Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184401G>A | CA9135989 | INSR | c.889C>T (p.Arg297Trp) n.864C>T c.967C>T (p.Arg323Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184401G>C | CA403669815 | INSR | c.889C>G (p.Arg297Gly) n.864C>G c.967C>G (p.Arg323Gly) | |
| 19 | g.7184401G= | CA2320796150 | INSR | c.889C= (p.Arg297=) n.864C= c.967C= (p.Arg323=) | |
| 19 | g.7184401G>T | CA505400345 | INSR | c.889C>A (p.Arg297=) n.864C>A c.967C>A (p.Arg323=) | |
| 19 | g.7184402C>A | CA505400347 | INSR | c.888G>T (p.Ser296=) n.863G>T c.966G>T (p.Ser322=) | |
| 19 | g.7184402C= | CA2320796153 | INSR | c.888G= (p.Ser296=) n.863G= c.966G= (p.Ser322=) | |
| 19 | g.7184402C>G | CA505400346 | INSR | c.888G>C (p.Ser296=) n.863G>C c.966G>C (p.Ser322=) | |
| 19 | g.7184402C>T | CA9135990 | INSR | c.888G>A (p.Ser296=) n.863G>A c.966G>A (p.Ser322=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184403G>A | CA304866494 | INSR | c.887C>T (p.Ser296Leu) n.862C>T c.965C>T (p.Ser322Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184403G>C | CA403669816 | INSR | c.887C>G (p.Ser296Trp) n.862C>G c.965C>G (p.Ser322Trp) | |
| 19 | g.7184403G= | CA2320796157 | INSR | c.887C= (p.Ser296=) n.862C= c.965C= (p.Ser322=) | |
| 19 | g.7184403G>T | CA403669817 | INSR | c.887C>A (p.Ser296Ter) n.862C>A c.965C>A (p.Ser322Ter) | gnomAD v4 |
| 19 | g.7184404A>C | CA403669818 | INSR | c.886T>G (p.Ser296Ala) n.861T>G c.964T>G (p.Ser322Ala) | |
| 19 | g.7184404A>G | CA403669819 | INSR | c.886T>C (p.Ser296Pro) n.861T>C c.964T>C (p.Ser322Pro) | |
| 19 | g.7184404A>T | CA403669820 | INSR | c.886T>A (p.Ser296Thr) n.861T>A c.964T>A (p.Ser322Thr) | |
| 19 | g.7184405G>A | CA505400348 | INSR | c.885C>T (p.Asn295=) n.860C>T c.963C>T (p.Asn321=) | gnomAD v4 |
| 19 | g.7184405G>C | CA403669821 | INSR | c.885C>G (p.Asn295Lys) n.860C>G c.963C>G (p.Asn321Lys) | |
| 19 | g.7184405G>T | CA403669822 | INSR | c.885C>A (p.Asn295Lys) n.860C>A c.963C>A (p.Asn321Lys) | |
| 19 | g.7184406T>A | CA403669823 | INSR | c.884A>T (p.Asn295Ile) n.859A>T c.962A>T (p.Asn321Ile) | dbSNP |
| 19 | g.7184406T>C | CA403669825 | INSR | c.884A>G (p.Asn295Ser) n.859A>G c.962A>G (p.Asn321Ser) | |
| 19 | g.7184406T>G | CA403669824 | INSR | c.884A>C (p.Asn295Thr) n.859A>C c.962A>C (p.Asn321Thr) | |
| 19 | g.7184406T= | CA2320796159 | INSR | c.884A= (p.Asn295=) n.859A= c.962A= (p.Asn321=) | |
| 19 | g.7184407T>A | CA403669826 | INSR | c.883A>T (p.Asn295Tyr) n.858A>T c.961A>T (p.Asn321Tyr) | |
| 19 | g.7184407T>C | CA403669828 | INSR | c.883A>G (p.Asn295Asp) n.858A>G c.961A>G (p.Asn321Asp) | |
| 19 | g.7184407T>G | CA403669827 | INSR | c.883A>C (p.Asn295His) n.858A>C c.961A>C (p.Asn321His) | |
| 19 | g.7184408C>A | CA403669829 | INSR | c.882G>T (p.Lys294Asn) n.857G>T c.960G>T (p.Lys320Asn) | |
| 19 | g.7184408C= | CA2320796161 | INSR | c.882G= (p.Lys294=) n.857G= c.960G= (p.Lys320=) | |
| 19 | g.7184408C>G | CA403669830 | INSR | c.882G>C (p.Lys294Asn) n.857G>C c.960G>C (p.Lys320Asn) | |
| 19 | g.7184408C>T | CA9135991 | INSR | c.882G>A (p.Lys294=) n.857G>A c.960G>A (p.Lys320=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |