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.7116989A>C | CA2587920968 | INSR | c.*67T>G (n.*67T>G) | gnomAD v4 |
| 19 | g.7116989A>T | CA2587920969 | INSR | c.*67T>A (n.*67T>A) | gnomAD v4 |
| 19 | g.7116990G>C | CA884174979 | INSR | c.*66C>G (n.*66C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7116990G= | CA2320763844 | INSR | c.*66C= (n.*66C=) | |
| 19 | g.7116990G>T | CA2587920970 | INSR | c.*66C>A (n.*66C>A) | gnomAD v4 |
| 19 | g.7116991A>T | CA2587920971 | INSR | c.*65T>A (n.*65T>A) | gnomAD v4 |
| 19 | g.7116992G>T | CA2576594903 | INSR | c.*64C>A (n.*64C>A) | gnomAD v4 |
| 19 | g.7116993G>A | CA631692403 | INSR | c.*63C>T (n.*63C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7116993G= | CA2320763845 | INSR | c.*63C= (n.*63C=) | |
| 19 | g.7116993G>T | CA2587920972 | INSR | c.*63C>A (n.*63C>A) | gnomAD v4 |
| 19 | g.7116994C= | CA2320763847 | INSR | c.*62G= (n.*62G=) | |
| 19 | g.7116994C>T | CA884174981 | INSR | c.*62G>A (n.*62G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7116995T>A | CA2587920973 | INSR | c.*61A>T (n.*61A>T) | gnomAD v4 |
| 19 | g.7116996T>C | CA884174982 | INSR | c.*60A>G (n.*60A>G) | dbSNP |
| 19 | g.7116996T>G | CA2587920974 | INSR | c.*60A>C (n.*60A>C) | gnomAD v4 |
| 19 | g.7116996T= | CA2320763848 | INSR | c.*60A= (n.*60A=) | |
| 19 | g.7116997T>C | CA2587920975 | INSR | c.*59A>G (n.*59A>G) | gnomAD v4 |
| 19 | g.7116998C>A | CA2587920976 | INSR | c.*58G>T (n.*58G>T) | gnomAD v4 |
| 19 | g.7116999A= | CA2320763850 | INSR | c.*57T= (n.*57T=) | |
| 19 | g.7116999A>C | CA631692404 | INSR | c.*57T>G (n.*57T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7117000A>T | CA2587920977 | INSR | c.*56T>A (n.*56T>A) | gnomAD v4 |
| 19 | g.7117002C>A | CA2576594904 | INSR | c.*54G>T (n.*54G>T) | gnomAD v4 |
| 19 | g.7117002C= | CA2320763853 | INSR | c.*54G= (n.*54G=) | |
| 19 | g.7117002C>G | CA2320763852 | INSR | c.*54G>C (n.*54G>C) | dbSNP |
| 19 | g.7117002C>T | CA884174989 | INSR | c.*54G>A (n.*54G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7117003C= | CA2320763855 | INSR | c.*53G= (n.*53G=) | |
| 19 | g.7117003C>G | CA631692406 | INSR | c.*53G>C (n.*53G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7117004A= | CA2320763857 | INSR | c.*52T= (n.*52T=) | |
| 19 | g.7117004A>G | CA993113743 | INSR | c.*52T>C (n.*52T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7117005G>C | CA2500632866 | INSR | c.*51C>G (n.*51C>G) | |
| 19 | g.7117005G>T | CA2587920978 | INSR | c.*51C>A (n.*51C>A) | gnomAD v4 |
| 19 | g.7117006A>G | CA2587920979 | INSR | c.*50T>C (n.*50T>C) | gnomAD v4 |
| 19 | g.7117007G>A | CA993113753 | INSR | c.*49C>T (n.*49C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7117007G= | CA2320763858 | INSR | c.*49C= (n.*49C=) | |
| 19 | g.7117007G>T | CA2587920980 | INSR | c.*49C>A (n.*49C>A) | gnomAD v4 |
| 19 | g.7117008G>T | CA2587920981 | INSR | c.*48C>A (n.*48C>A) | gnomAD v4 |
| 19 | g.7117010A>T | CA2576594905 | INSR | c.*46T>A (n.*46T>A) | gnomAD v4 |
| 19 | g.7117012G>T | CA2587920982 | INSR | c.*44C>A (n.*44C>A) | gnomAD v4 |
| 19 | g.7117013C>A | CA9135063 | INSR | c.*43G>T (n.*43G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7117013C= | CA2320763860 | INSR | c.*43G= (n.*43G=) | |
| 19 | g.7117013C>T | CA9135064 | INSR | c.*43G>A (n.*43G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7117014G>A | CA2320763863 | INSR | c.*42C>T (n.*42C>T) | dbSNP |
| 19 | g.7117014G= | CA2320763862 | INSR | c.*42C= (n.*42C=) | |
| 19 | g.7117015A>C | CA2587920983 | INSR | c.*41T>G (n.*41T>G) | gnomAD v4 |
| 19 | g.7117018del | CA2813449705 | INSR | c.*41del (n.*41del) | |
| 19 | g.7117017A>T | CA2514334374 | INSR | c.*39T>A (n.*39T>A) | |
| 19 | g.7117018A= | CA2320763865 | INSR | c.*38T= (n.*38T=) | |
| 19 | g.7117018A>T | CA9135065 | INSR | c.*38T>A (n.*38T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7117019T>A | CA2587920984 | INSR | c.*37A>T (n.*37A>T) | gnomAD v4 |
| 19 | g.7117019T>G | CA993113755 | INSR | c.*37A>C (n.*37A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7117020G>A | CA2587920985 | INSR | c.*36C>T (n.*36C>T) | gnomAD v4 |
| 19 | g.7117020G>T | CA2576594906 | INSR | c.*36C>A (n.*36C>A) | gnomAD v4 |
| 19 | g.7117024A= | CA2320763868 | INSR | c.*32T= (n.*32T=) | |
| 19 | g.7117024A>C | CA304866117 | INSR | c.*32T>G (n.*32T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7117024A>T | CA2587920986 | INSR | c.*32T>A (n.*32T>A) | gnomAD v4 |
| 19 | g.7117024_7117025delinsAC | CA2320763867 | INSR | c.*31_*32delinsGT (n.*31_*32delinsGT) | |
| 19 | g.7117028del | CA9135066 | INSR | c.*31del (n.*31del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7117027C>A | CA2320763873 | INSR | c.*29G>T (n.*29G>T) | dbSNP |
| 19 | g.7117027C= | CA2320763872 | INSR | c.*29G= (n.*29G=) | |
| 19 | g.7117027C>G | CA2576594907 | INSR | c.*29G>C (n.*29G>C) | |
| 19 | g.7117027C>T | CA2587920987 | INSR | c.*29G>A (n.*29G>A) | gnomAD v4 |
| 19 | g.7117028C>A | CA2504488800 | INSR | c.*28G>T (n.*28G>T) | |
| 19 | g.7117029T>A | CA2587920988 | INSR | c.*27A>T (n.*27A>T) | gnomAD v4 |
| 19 | g.7117029T>C | CA9135067 | INSR | c.*27A>G (n.*27A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7117029T= | CA2320763874 | INSR | c.*27A= (n.*27A=) | |
| 19 | g.7117030G>C | CA631692410 | INSR | c.*26C>G (n.*26C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7117030G= | CA2320763876 | INSR | c.*26C= (n.*26C=) | |
| 19 | g.7117030G>T | CA2587920989 | INSR | c.*26C>A (n.*26C>A) | gnomAD v4 |
| 19 | g.7117031C>T | CA2576594908 | INSR | c.*25G>A (n.*25G>A) | |
| 19 | g.7117032C= | CA2320763879 | INSR | c.*24G= (n.*24G=) | |
| 19 | g.7117032C>G | CA9135068 | INSR | c.*24G>C (n.*24G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7117032C>T | CA505216034 | INSR | c.*24G>A (n.*24G>A) | |
| 19 | g.7117033C= | CA2320763882 | INSR | c.*23G= (n.*23G=) | |
| 19 | g.7117033C>G | CA2587920990 | INSR | c.*23G>C (n.*23G>C) | gnomAD v4 |
| 19 | g.7117033C>T | CA9135069 | INSR | c.*23G>A (n.*23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7117034G>A | CA9135070 | INSR | c.*22C>T (n.*22C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7117034G>C | CA2587920991 | INSR | c.*22C>G (n.*22C>G) | gnomAD v4 |
| 19 | g.7117034G= | CA2320763885 | INSR | c.*22C= (n.*22C=) | |
| 19 | g.7117034G>T | CA884175002 | INSR | c.*22C>A (n.*22C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7117035C>A | CA9135071 | INSR | c.*21G>T (n.*21G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7117035C= | CA2320763887 | INSR | c.*21G= (n.*21G=) | |
| 19 | g.7117035C>T | CA631692411 | INSR | c.*21G>A (n.*21G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7117039dup | CA2587920992 | INSR | c.*21dup (n.*21dup) | gnomAD v4 |
| 19 | g.7117036C>A | CA2521911751 | INSR | c.*20G>T (n.*20G>T) | |
| 19 | g.7117036C= | CA2320763889 | INSR | c.*20G= (n.*20G=) | |
| 19 | g.7117036C>T | CA2320763890 | INSR | c.*20G>A (n.*20G>A) | dbSNP |
| 19 | g.7117037C= | CA2320763892 | INSR | c.*19G= (n.*19G=) | |
| 19 | g.7117037C>G | CA884175004 | INSR | c.*19G>C (n.*19G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7117037C>T | CA2587920993 | INSR | c.*19G>A (n.*19G>A) | gnomAD v4 |
| 19 | g.7117038C>A | CA884175005 | INSR | c.*18G>T (n.*18G>T) | dbSNP |
| 19 | g.7117038C= | CA2320763894 | INSR | c.*18G= (n.*18G=) | |
| 19 | g.7117038C>T | CA9135072 | INSR | c.*18G>A (n.*18G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7117039C= | CA2320763898 | INSR | c.*17G= (n.*17G=) | |
| 19 | g.7117039C>G | CA304866143 | INSR | c.*17G>C (n.*17G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7117039C>T | CA9135073 | INSR | c.*17G>A (n.*17G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7117040G>A | CA9135074 | INSR | c.*16C>T (n.*16C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7117040G>C | CA2581365664 | INSR | c.*16C>G (n.*16C>G) | gnomAD v4 |
| 19 | g.7117040G= | CA2320763901 | INSR | c.*16C= (n.*16C=) | |
| 19 | g.7117040G>T | CA9135075 | INSR | c.*16C>A (n.*16C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7117040_7117041insA | CA657053971 | INSR | c.*15_*16insT (n.*15_*16insT) | |
| 19 | g.7117041C>A | CA2320763904 | INSR | c.*15G>T (n.*15G>T) | dbSNP gnomAD v4 |
| 19 | g.7117041C= | CA2320763905 | INSR | c.*15G= (n.*15G=) | |
| 19 | g.7117041C>T | CA2587920994 | INSR | c.*15G>A (n.*15G>A) | gnomAD v4 |
| 19 | g.7117043A>C | CA2587920995 | INSR | c.*13T>G (n.*13T>G) | gnomAD v4 |
| 19 | g.7117043A>G | CA2576594909 | INSR | c.*13T>C (n.*13T>C) | gnomAD v4 |
| 19 | g.7117044C= | CA2320763909 | INSR | c.*12G= (n.*12G=) | |
| 19 | g.7117044C>T | CA9135076 | INSR | c.*12G>A (n.*12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7117045G>A | CA9135077 | INSR | c.*11C>T (n.*11C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7117045G>C | CA884175012 | INSR | c.*11C>G (n.*11C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7117045G= | CA2320763917 | INSR | c.*11C= (n.*11C=) | |
| 19 | g.7117045G>T | CA2320763920 | INSR | c.*11C>A (n.*11C>A) | dbSNP |
| 19 | g.7117047T>C | CA2587920996 | INSR | c.*9A>G (n.*9A>G) | gnomAD v4 |
| 19 | g.7117047T>G | CA2587920997 | INSR | c.*9A>C (n.*9A>C) | gnomAD v4 |
| 19 | g.7117049G>C | CA2320763923 | INSR | c.*7C>G (n.*7C>G) | dbSNP |
| 19 | g.7117049G= | CA2320763921 | INSR | c.*7C= (n.*7C=) | |
| 19 | g.7117050G>A | CA631692412 | INSR | c.*6C>T (n.*6C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7117050G>C | CA631692413 | INSR | c.*6C>G (n.*6C>G) | dbSNP gnomAD v2 |
| 19 | g.7117050G= | CA2320763924 | INSR | c.*6C= (n.*6C=) | |
| 19 | g.7117050G>T | CA993113773 | INSR | c.*6C>A (n.*6C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7117052A>C | CA2587920998 | INSR | c.*4T>G (n.*4T>G) | gnomAD v4 |
| 19 | g.7117053C= | CA2320763926 | INSR | c.*3G= (n.*3G=) | |
| 19 | g.7117053C>G | CA884175020 | INSR | c.*3G>C (n.*3G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7117054T>A | CA2587920999 | INSR | c.*2A>T (n.*2A>T) | gnomAD v4 |
| 19 | g.7117054T>C | CA9135078 | INSR | c.*2A>G (n.*2A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7117054T= | CA2320763930 | INSR | c.*2A= (n.*2A=) | |
| 19 | g.7117055G>A | CA9135079 | INSR | c.*1C>T (n.*1C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7117055G>C | CA2587921000 | INSR | c.*1C>G (n.*1C>G) | gnomAD v4 |
| 19 | g.7117055G= | CA2320763934 | INSR | c.*1C= (n.*1C=) | |
| 19 | g.7117055G>T | CA2587921001 | INSR | c.*1C>A (n.*1C>A) | gnomAD v4 |
| 19 | g.7117056T>A | CA403668193 | INSR | c.4149A>T (p.Ter1383Tyr) c.4113A>T (p.Ter1371Tyr) c.4224A>T (p.Ter1408Tyr) c.4188A>T (p.Ter1396Tyr) c.4146A>T (p.Ter1382Tyr) c.4110A>T (p.Ter1370Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7117056T>C | CA9135080 | INSR | c.4149A>G (p.Ter1383=) c.4113A>G (p.Ter1371=) c.4224A>G (p.Ter1408=) c.4188A>G (p.Ter1396=) c.4146A>G (p.Ter1382=) c.4110A>G (p.Ter1370=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7117056T>G | CA403668194 | INSR | c.4149A>C (p.Ter1383Tyr) c.4113A>C (p.Ter1371Tyr) c.4224A>C (p.Ter1408Tyr) c.4188A>C (p.Ter1396Tyr) c.4146A>C (p.Ter1382Tyr) c.4110A>C (p.Ter1370Tyr) | gnomAD v4 |
| 19 | g.7117056T= | CA2320763936 | INSR | c.4149A= (p.Ter1383=) c.4113A= (p.Ter1371=) c.4224A= (p.Ter1408=) c.4188A= (p.Ter1396=) c.4146A= (p.Ter1382=) c.4110A= (p.Ter1370=) | |
| 19 | g.7117057T>A | CA403668195 | INSR | c.4148A>T (p.Ter1383Leu) c.4112A>T (p.Ter1371Leu) c.4223A>T (p.Ter1408Leu) c.4187A>T (p.Ter1396Leu) c.4145A>T (p.Ter1382Leu) c.4109A>T (p.Ter1370Leu) | |
| 19 | g.7117057T>C | CA505216035 | INSR | c.4148A>G (p.Ter1383=) c.4112A>G (p.Ter1371=) c.4223A>G (p.Ter1408=) c.4187A>G (p.Ter1396=) c.4145A>G (p.Ter1382=) c.4109A>G (p.Ter1370=) | gnomAD v4 |
| 19 | g.7117057T>G | CA403668196 | INSR | c.4148A>C (p.Ter1383Ser) c.4112A>C (p.Ter1371Ser) c.4223A>C (p.Ter1408Ser) c.4187A>C (p.Ter1396Ser) c.4145A>C (p.Ter1382Ser) c.4109A>C (p.Ter1370Ser) | |
| 19 | g.7117058A>C | CA403668197 | INSR | c.4147T>G (p.Ter1383Glu) c.4111T>G (p.Ter1371Glu) c.4222T>G (p.Ter1408Glu) c.4186T>G (p.Ter1396Glu) c.4144T>G (p.Ter1382Glu) c.4108T>G (p.Ter1370Glu) | |
| 19 | g.7117058A>G | CA403668198 | INSR | c.4147T>C (p.Ter1383Gln) c.4111T>C (p.Ter1371Gln) c.4222T>C (p.Ter1408Gln) c.4186T>C (p.Ter1396Gln) c.4144T>C (p.Ter1382Gln) c.4108T>C (p.Ter1370Gln) | |
| 19 | g.7117058A>T | CA403668199 | INSR | c.4147T>A (p.Ter1383Lys) c.4111T>A (p.Ter1371Lys) c.4222T>A (p.Ter1408Lys) c.4186T>A (p.Ter1396Lys) c.4144T>A (p.Ter1382Lys) c.4108T>A (p.Ter1370Lys) | |
| 19 | g.7117059G>A | CA505216039 | INSR | c.4146C>T (p.Ser1382=) c.4110C>T (p.Ser1370=) c.4221C>T (p.Ser1407=) c.4185C>T (p.Ser1395=) c.4143C>T (p.Ser1381=) c.4107C>T (p.Ser1369=) | COSMIC COSMIC |
| 19 | g.7117059G>C | CA505216037 | INSR | c.4146C>G (p.Ser1382=) c.4110C>G (p.Ser1370=) c.4221C>G (p.Ser1407=) c.4185C>G (p.Ser1395=) c.4143C>G (p.Ser1381=) c.4107C>G (p.Ser1369=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7117059G= | CA2320763939 | INSR | c.4146C= (p.Ser1382=) c.4110C= (p.Ser1370=) c.4221C= (p.Ser1407=) c.4185C= (p.Ser1395=) c.4143C= (p.Ser1381=) c.4107C= (p.Ser1369=) | |
| 19 | g.7117059G>T | CA505216036 | INSR | c.4146C>A (p.Ser1382=) c.4110C>A (p.Ser1370=) c.4221C>A (p.Ser1407=) c.4185C>A (p.Ser1395=) c.4143C>A (p.Ser1381=) c.4107C>A (p.Ser1369=) | |
| 19 | g.7117060G>A | CA9135081 | INSR | c.4145C>T (p.Ser1382Phe) c.4109C>T (p.Ser1370Phe) c.4220C>T (p.Ser1407Phe) c.4184C>T (p.Ser1395Phe) c.4142C>T (p.Ser1381Phe) c.4106C>T (p.Ser1369Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7117060G>C | CA403668201 | INSR | c.4145C>G (p.Ser1382Cys) c.4109C>G (p.Ser1370Cys) c.4220C>G (p.Ser1407Cys) c.4184C>G (p.Ser1395Cys) c.4142C>G (p.Ser1381Cys) c.4106C>G (p.Ser1369Cys) | |
| 19 | g.7117060G= | CA2320763947 | INSR | c.4145C= (p.Ser1382=) c.4109C= (p.Ser1370=) c.4220C= (p.Ser1407=) c.4184C= (p.Ser1395=) c.4142C= (p.Ser1381=) c.4106C= (p.Ser1369=) | |
| 19 | g.7117060G>T | CA403668200 | INSR | c.4145C>A (p.Ser1382Tyr) c.4109C>A (p.Ser1370Tyr) c.4220C>A (p.Ser1407Tyr) c.4184C>A (p.Ser1395Tyr) c.4142C>A (p.Ser1381Tyr) c.4106C>A (p.Ser1369Tyr) | |
| 19 | g.7117061A>C | CA403668202 | INSR | c.4144T>G (p.Ser1382Ala) c.4108T>G (p.Ser1370Ala) c.4219T>G (p.Ser1407Ala) c.4183T>G (p.Ser1395Ala) c.4141T>G (p.Ser1381Ala) c.4105T>G (p.Ser1369Ala) | |
| 19 | g.7117061A>G | CA403668203 | INSR | c.4144T>C (p.Ser1382Pro) c.4108T>C (p.Ser1370Pro) c.4219T>C (p.Ser1407Pro) c.4183T>C (p.Ser1395Pro) c.4141T>C (p.Ser1381Pro) c.4105T>C (p.Ser1369Pro) | |
| 19 | g.7117061A>T | CA403668204 | INSR | c.4144T>A (p.Ser1382Thr) c.4108T>A (p.Ser1370Thr) c.4219T>A (p.Ser1407Thr) c.4183T>A (p.Ser1395Thr) c.4141T>A (p.Ser1381Thr) c.4105T>A (p.Ser1369Thr) | |
| 19 | g.7117062A>C | CA505216045 | INSR | c.4143T>G (p.Pro1381=) c.4107T>G (p.Pro1369=) c.4218T>G (p.Pro1406=) c.4182T>G (p.Pro1394=) c.4140T>G (p.Pro1380=) c.4104T>G (p.Pro1368=) | |
| 19 | g.7117062A>G | CA505216044 | INSR | c.4143T>C (p.Pro1381=) c.4107T>C (p.Pro1369=) c.4218T>C (p.Pro1406=) c.4182T>C (p.Pro1394=) c.4140T>C (p.Pro1380=) c.4104T>C (p.Pro1368=) | |
| 19 | g.7117062A>T | CA505216043 | INSR | c.4143T>A (p.Pro1381=) c.4107T>A (p.Pro1369=) c.4218T>A (p.Pro1406=) c.4182T>A (p.Pro1394=) c.4140T>A (p.Pro1380=) c.4104T>A (p.Pro1368=) | |
| 19 | g.7117063G>A | CA403668205 | INSR | c.4142C>T (p.Pro1381Leu) c.4106C>T (p.Pro1369Leu) c.4217C>T (p.Pro1406Leu) c.4181C>T (p.Pro1394Leu) c.4139C>T (p.Pro1380Leu) c.4103C>T (p.Pro1368Leu) | gnomAD v4 |
| 19 | g.7117063G>C | CA403668206 | INSR | c.4142C>G (p.Pro1381Arg) c.4106C>G (p.Pro1369Arg) c.4217C>G (p.Pro1406Arg) c.4181C>G (p.Pro1394Arg) c.4139C>G (p.Pro1380Arg) c.4103C>G (p.Pro1368Arg) | |
| 19 | g.7117063G>T | CA403668207 | INSR | c.4142C>A (p.Pro1381His) c.4106C>A (p.Pro1369His) c.4217C>A (p.Pro1406His) c.4181C>A (p.Pro1394His) c.4139C>A (p.Pro1380His) c.4103C>A (p.Pro1368His) | |
| 19 | g.7117064G>A | CA403668208 | INSR | c.4141C>T (p.Pro1381Ser) c.4105C>T (p.Pro1369Ser) c.4216C>T (p.Pro1406Ser) c.4180C>T (p.Pro1394Ser) c.4138C>T (p.Pro1380Ser) c.4102C>T (p.Pro1368Ser) | COSMIC COSMIC |
| 19 | g.7117064G>C | CA403668209 | INSR | c.4141C>G (p.Pro1381Ala) c.4105C>G (p.Pro1369Ala) c.4216C>G (p.Pro1406Ala) c.4180C>G (p.Pro1394Ala) c.4138C>G (p.Pro1380Ala) c.4102C>G (p.Pro1368Ala) | |
| 19 | g.7117064G>T | CA403668210 | INSR | c.4141C>A (p.Pro1381Thr) c.4105C>A (p.Pro1369Thr) c.4216C>A (p.Pro1406Thr) c.4180C>A (p.Pro1394Thr) c.4138C>A (p.Pro1380Thr) c.4102C>A (p.Pro1368Thr) | |
| 19 | g.7117065A>C | CA403668211 | INSR | c.4140T>G (p.Asn1380Lys) c.4104T>G (p.Asn1368Lys) c.4215T>G (p.Asn1405Lys) c.4179T>G (p.Asn1393Lys) c.4137T>G (p.Asn1379Lys) c.4101T>G (p.Asn1367Lys) | gnomAD v4 |
| 19 | g.7117065A>G | CA505216051 | INSR | c.4140T>C (p.Asn1380=) c.4104T>C (p.Asn1368=) c.4215T>C (p.Asn1405=) c.4179T>C (p.Asn1393=) c.4137T>C (p.Asn1379=) c.4101T>C (p.Asn1367=) | |
| 19 | g.7117065A>T | CA403668212 | INSR | c.4140T>A (p.Asn1380Lys) c.4104T>A (p.Asn1368Lys) c.4215T>A (p.Asn1405Lys) c.4179T>A (p.Asn1393Lys) c.4137T>A (p.Asn1379Lys) c.4101T>A (p.Asn1367Lys) | |
| 19 | g.7117066T>A | CA403668214 | INSR | c.4139A>T (p.Asn1380Ile) c.4103A>T (p.Asn1368Ile) c.4214A>T (p.Asn1405Ile) c.4178A>T (p.Asn1393Ile) c.4136A>T (p.Asn1379Ile) c.4100A>T (p.Asn1367Ile) | |
| 19 | g.7117066T>C | CA9135082 | INSR | c.4139A>G (p.Asn1380Ser) c.4103A>G (p.Asn1368Ser) c.4214A>G (p.Asn1405Ser) c.4178A>G (p.Asn1393Ser) c.4136A>G (p.Asn1379Ser) c.4100A>G (p.Asn1367Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7117066T>G | CA403668213 | INSR | c.4139A>C (p.Asn1380Thr) c.4103A>C (p.Asn1368Thr) c.4214A>C (p.Asn1405Thr) c.4178A>C (p.Asn1393Thr) c.4136A>C (p.Asn1379Thr) c.4100A>C (p.Asn1367Thr) | |
| 19 | g.7117066T= | CA2320763952 | INSR | c.4139A= (p.Asn1380=) c.4103A= (p.Asn1368=) c.4214A= (p.Asn1405=) c.4178A= (p.Asn1393=) c.4136A= (p.Asn1379=) c.4100A= (p.Asn1367=) | |
| 19 | g.7117067T>A | CA403668215 | INSR | c.4138A>T (p.Asn1380Tyr) c.4102A>T (p.Asn1368Tyr) c.4213A>T (p.Asn1405Tyr) c.4177A>T (p.Asn1393Tyr) c.4135A>T (p.Asn1379Tyr) c.4099A>T (p.Asn1367Tyr) | |
| 19 | g.7117067T>C | CA403668217 | INSR | c.4138A>G (p.Asn1380Asp) c.4102A>G (p.Asn1368Asp) c.4213A>G (p.Asn1405Asp) c.4177A>G (p.Asn1393Asp) c.4135A>G (p.Asn1379Asp) c.4099A>G (p.Asn1367Asp) | |
| 19 | g.7117067T>G | CA403668216 | INSR | c.4138A>C (p.Asn1380His) c.4102A>C (p.Asn1368His) c.4213A>C (p.Asn1405His) c.4177A>C (p.Asn1393His) c.4135A>C (p.Asn1379His) c.4099A>C (p.Asn1367His) | |
| 19 | g.7117068G>A | CA505216054 | INSR | c.4137C>T (p.Ser1379=) c.4101C>T (p.Ser1367=) c.4212C>T (p.Ser1404=) c.4176C>T (p.Ser1392=) c.4134C>T (p.Ser1378=) c.4098C>T (p.Ser1366=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7117068G>C | CA505216053 | INSR | c.4137C>G (p.Ser1379=) c.4101C>G (p.Ser1367=) c.4212C>G (p.Ser1404=) c.4176C>G (p.Ser1392=) c.4134C>G (p.Ser1378=) c.4098C>G (p.Ser1366=) | |
| 19 | g.7117068G= | CA2320763956 | INSR | c.4137C= (p.Ser1379=) c.4101C= (p.Ser1367=) c.4212C= (p.Ser1404=) c.4176C= (p.Ser1392=) c.4134C= (p.Ser1378=) c.4098C= (p.Ser1366=) | |
| 19 | g.7117068G>T | CA505216052 | INSR | c.4137C>A (p.Ser1379=) c.4101C>A (p.Ser1367=) c.4212C>A (p.Ser1404=) c.4176C>A (p.Ser1392=) c.4134C>A (p.Ser1378=) c.4098C>A (p.Ser1366=) | |
| 19 | g.7117069G>A | CA403668218 | INSR | c.4136C>T (p.Ser1379Phe) c.4100C>T (p.Ser1367Phe) c.4211C>T (p.Ser1404Phe) c.4175C>T (p.Ser1392Phe) c.4133C>T (p.Ser1378Phe) c.4097C>T (p.Ser1366Phe) | |
| 19 | g.7117069G>C | CA403668219 | INSR | c.4136C>G (p.Ser1379Cys) c.4100C>G (p.Ser1367Cys) c.4211C>G (p.Ser1404Cys) c.4175C>G (p.Ser1392Cys) c.4133C>G (p.Ser1378Cys) c.4097C>G (p.Ser1366Cys) | |
| 19 | g.7117069G>T | CA403668220 | INSR | c.4136C>A (p.Ser1379Tyr) c.4100C>A (p.Ser1367Tyr) c.4211C>A (p.Ser1404Tyr) c.4175C>A (p.Ser1392Tyr) c.4133C>A (p.Ser1378Tyr) c.4097C>A (p.Ser1366Tyr) | |
| 19 | g.7117070A= | CA2320763958 | INSR | c.4135T= (p.Ser1379=) c.4099T= (p.Ser1367=) c.4210T= (p.Ser1404=) c.4174T= (p.Ser1392=) c.4132T= (p.Ser1378=) c.4096T= (p.Ser1366=) | |
| 19 | g.7117070A>C | CA403668221 | INSR | c.4135T>G (p.Ser1379Ala) c.4099T>G (p.Ser1367Ala) c.4210T>G (p.Ser1404Ala) c.4174T>G (p.Ser1392Ala) c.4132T>G (p.Ser1378Ala) c.4096T>G (p.Ser1366Ala) | |
| 19 | g.7117070A>G | CA403668222 | INSR | c.4135T>C (p.Ser1379Pro) c.4099T>C (p.Ser1367Pro) c.4210T>C (p.Ser1404Pro) c.4174T>C (p.Ser1392Pro) c.4132T>C (p.Ser1378Pro) c.4096T>C (p.Ser1366Pro) | |
| 19 | g.7117070A>T | CA403668223 | INSR | c.4135T>A (p.Ser1379Thr) c.4099T>A (p.Ser1367Thr) c.4210T>A (p.Ser1404Thr) c.4174T>A (p.Ser1392Thr) c.4132T>A (p.Ser1378Thr) c.4096T>A (p.Ser1366Thr) | |
| 19 | g.7117071C>A | CA505216056 | INSR | c.4134G>T (p.Arg1378=) c.4098G>T (p.Arg1366=) c.4209G>T (p.Arg1403=) c.4173G>T (p.Arg1391=) c.4131G>T (p.Arg1377=) c.4095G>T (p.Arg1365=) | |
| 19 | g.7117071C= | CA2320763965 | INSR | c.4134G= (p.Arg1378=) c.4098G= (p.Arg1366=) c.4209G= (p.Arg1403=) c.4173G= (p.Arg1391=) c.4131G= (p.Arg1377=) c.4095G= (p.Arg1365=) | |
| 19 | g.7117071C>G | CA505216055 | INSR | c.4134G>C (p.Arg1378=) c.4098G>C (p.Arg1366=) c.4209G>C (p.Arg1403=) c.4173G>C (p.Arg1391=) c.4131G>C (p.Arg1377=) c.4095G>C (p.Arg1365=) | ClinVar dbSNP gnomAD v2 |
| 19 | g.7117071C>T | CA9135083 | INSR | c.4134G>A (p.Arg1378=) c.4098G>A (p.Arg1366=) c.4209G>A (p.Arg1403=) c.4173G>A (p.Arg1391=) c.4131G>A (p.Arg1377=) c.4095G>A (p.Arg1365=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7117072dup | CA920049000 | INSR | c.4134dup (p.Ser1379ValfsTer25) c.4098dup (p.Ser1367ValfsTer25) c.4209dup (p.Ser1404ValfsTer25) c.4173dup (p.Ser1392ValfsTer25) c.4131dup (p.Ser1378ValfsTer25) c.4095dup (p.Ser1366ValfsTer25) | dbSNP gnomAD v4 |
| 19 | g.7117072C>A | CA403668224 | INSR | c.4133G>T (p.Arg1378Leu) c.4097G>T (p.Arg1366Leu) c.4208G>T (p.Arg1403Leu) c.4172G>T (p.Arg1391Leu) c.4130G>T (p.Arg1377Leu) c.4094G>T (p.Arg1365Leu) | dbSNP |
| 19 | g.7117072C= | CA2320763975 | INSR | c.4133G= (p.Arg1378=) c.4097G= (p.Arg1366=) c.4208G= (p.Arg1403=) c.4172G= (p.Arg1391=) c.4130G= (p.Arg1377=) c.4094G= (p.Arg1365=) | |
| 19 | g.7117072C>G | CA403668225 | INSR | c.4133G>C (p.Arg1378Pro) c.4097G>C (p.Arg1366Pro) c.4208G>C (p.Arg1403Pro) c.4172G>C (p.Arg1391Pro) c.4130G>C (p.Arg1377Pro) c.4094G>C (p.Arg1365Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7117072C>T | CA9135084 | INSR | c.4133G>A (p.Arg1378Gln) c.4097G>A (p.Arg1366Gln) c.4208G>A (p.Arg1403Gln) c.4172G>A (p.Arg1391Gln) c.4130G>A (p.Arg1377Gln) c.4094G>A (p.Arg1365Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7117073G>A | CA403668226 | INSR | c.4132C>T (p.Arg1378Trp) c.4096C>T (p.Arg1366Trp) c.4207C>T (p.Arg1403Trp) c.4171C>T (p.Arg1391Trp) c.4129C>T (p.Arg1377Trp) c.4093C>T (p.Arg1365Trp) | dbSNP gnomAD v4 |
| 19 | g.7117073G>C | CA9135085 | INSR | c.4132C>G (p.Arg1378Gly) c.4096C>G (p.Arg1366Gly) c.4207C>G (p.Arg1403Gly) c.4171C>G (p.Arg1391Gly) c.4129C>G (p.Arg1377Gly) c.4093C>G (p.Arg1365Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7117073G= | CA2320763982 | INSR | c.4132C= (p.Arg1378=) c.4096C= (p.Arg1366=) c.4207C= (p.Arg1403=) c.4171C= (p.Arg1391=) c.4129C= (p.Arg1377=) c.4093C= (p.Arg1365=) | |
| 19 | g.7117073G>T | CA505216058 | INSR | c.4132C>A (p.Arg1378=) c.4096C>A (p.Arg1366=) c.4207C>A (p.Arg1403=) c.4171C>A (p.Arg1391=) c.4129C>A (p.Arg1377=) c.4093C>A (p.Arg1365=) | |
| 19 | g.7117074A= | CA2320763985 | INSR | c.4131T= (p.Pro1377=) c.4095T= (p.Pro1365=) c.4206T= (p.Pro1402=) c.4170T= (p.Pro1390=) c.4128T= (p.Pro1376=) c.4092T= (p.Pro1364=) | |
| 19 | g.7117074A>C | CA505216061 | INSR | c.4131T>G (p.Pro1377=) c.4095T>G (p.Pro1365=) c.4206T>G (p.Pro1402=) c.4170T>G (p.Pro1390=) c.4128T>G (p.Pro1376=) c.4092T>G (p.Pro1364=) | dbSNP gnomAD v4 |
| 19 | g.7117074A>G | CA505216060 | INSR | c.4131T>C (p.Pro1377=) c.4095T>C (p.Pro1365=) c.4206T>C (p.Pro1402=) c.4170T>C (p.Pro1390=) c.4128T>C (p.Pro1376=) c.4092T>C (p.Pro1364=) | |
| 19 | g.7117074A>T | CA505216059 | INSR | c.4131T>A (p.Pro1377=) c.4095T>A (p.Pro1365=) c.4206T>A (p.Pro1402=) c.4170T>A (p.Pro1390=) c.4128T>A (p.Pro1376=) c.4092T>A (p.Pro1364=) | |
| 19 | g.7117075G>A | CA403668229 | INSR | c.4130C>T (p.Pro1377Leu) c.4094C>T (p.Pro1365Leu) c.4205C>T (p.Pro1402Leu) c.4169C>T (p.Pro1390Leu) c.4127C>T (p.Pro1376Leu) c.4091C>T (p.Pro1364Leu) | gnomAD v4 |
| 19 | g.7117075G>C | CA403668227 | INSR | c.4130C>G (p.Pro1377Arg) c.4094C>G (p.Pro1365Arg) c.4205C>G (p.Pro1402Arg) c.4169C>G (p.Pro1390Arg) c.4127C>G (p.Pro1376Arg) c.4091C>G (p.Pro1364Arg) | |
| 19 | g.7117075G>T | CA403668228 | INSR | c.4130C>A (p.Pro1377His) c.4094C>A (p.Pro1365His) c.4205C>A (p.Pro1402His) c.4169C>A (p.Pro1390His) c.4127C>A (p.Pro1376His) c.4091C>A (p.Pro1364His) | |
| 19 | g.7117076G>A | CA403668230 | INSR | c.4129C>T (p.Pro1377Ser) c.4093C>T (p.Pro1365Ser) c.4204C>T (p.Pro1402Ser) c.4168C>T (p.Pro1390Ser) c.4126C>T (p.Pro1376Ser) c.4090C>T (p.Pro1364Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7117076G>C | CA403668231 | INSR | c.4129C>G (p.Pro1377Ala) c.4093C>G (p.Pro1365Ala) c.4204C>G (p.Pro1402Ala) c.4168C>G (p.Pro1390Ala) c.4126C>G (p.Pro1376Ala) c.4090C>G (p.Pro1364Ala) | |
| 19 | g.7117076G= | CA2320763988 | INSR | c.4129C= (p.Pro1377=) c.4093C= (p.Pro1365=) c.4204C= (p.Pro1402=) c.4168C= (p.Pro1390=) c.4126C= (p.Pro1376=) c.4090C= (p.Pro1364=) | |
| 19 | g.7117076G>T | CA403668232 | INSR | c.4129C>A (p.Pro1377Thr) c.4093C>A (p.Pro1365Thr) c.4204C>A (p.Pro1402Thr) c.4168C>A (p.Pro1390Thr) c.4126C>A (p.Pro1376Thr) c.4090C>A (p.Pro1364Thr) | |
| 19 | g.7117077C>A | CA403668233 | INSR | c.4128G>T (p.Leu1376Phe) c.4092G>T (p.Leu1364Phe) c.4203G>T (p.Leu1401Phe) c.4167G>T (p.Leu1389Phe) c.4125G>T (p.Leu1375Phe) c.4089G>T (p.Leu1363Phe) | |
| 19 | g.7117077C= | CA2320763992 | INSR | c.4128G= (p.Leu1376=) c.4092G= (p.Leu1364=) c.4203G= (p.Leu1401=) c.4167G= (p.Leu1389=) c.4125G= (p.Leu1375=) c.4089G= (p.Leu1363=) | |
| 19 | g.7117077C>G | CA403668234 | INSR | c.4128G>C (p.Leu1376Phe) c.4092G>C (p.Leu1364Phe) c.4203G>C (p.Leu1401Phe) c.4167G>C (p.Leu1389Phe) c.4125G>C (p.Leu1375Phe) c.4089G>C (p.Leu1363Phe) | |
| 19 | g.7117077C>T | CA9135086 | INSR | c.4128G>A (p.Leu1376=) c.4092G>A (p.Leu1364=) c.4203G>A (p.Leu1401=) c.4167G>A (p.Leu1389=) c.4125G>A (p.Leu1375=) c.4089G>A (p.Leu1363=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7117078A>C | CA403668235 | INSR | c.4127T>G (p.Leu1376Trp) c.4091T>G (p.Leu1364Trp) c.4202T>G (p.Leu1401Trp) c.4166T>G (p.Leu1389Trp) c.4124T>G (p.Leu1375Trp) c.4088T>G (p.Leu1363Trp) | |
| 19 | g.7117078A>G | CA403668236 | INSR | c.4127T>C (p.Leu1376Ser) c.4091T>C (p.Leu1364Ser) c.4202T>C (p.Leu1401Ser) c.4166T>C (p.Leu1389Ser) c.4124T>C (p.Leu1375Ser) c.4088T>C (p.Leu1363Ser) | gnomAD v4 |
| 19 | g.7117078A>T | CA403668237 | INSR | c.4127T>A (p.Leu1376Ter) c.4091T>A (p.Leu1364Ter) c.4202T>A (p.Leu1401Ter) c.4166T>A (p.Leu1389Ter) c.4124T>A (p.Leu1375Ter) c.4088T>A (p.Leu1363Ter) | |
| 19 | g.7117079A>C | CA403668238 | INSR | c.4126T>G (p.Leu1376Val) c.4090T>G (p.Leu1364Val) c.4201T>G (p.Leu1401Val) c.4165T>G (p.Leu1389Val) c.4123T>G (p.Leu1375Val) c.4087T>G (p.Leu1363Val) | |
| 19 | g.7117079A>G | CA505216062 | INSR | c.4126T>C (p.Leu1376=) c.4090T>C (p.Leu1364=) c.4201T>C (p.Leu1401=) c.4165T>C (p.Leu1389=) c.4123T>C (p.Leu1375=) c.4087T>C (p.Leu1363=) | |
| 19 | g.7117079A>T | CA403668239 | INSR | c.4126T>A (p.Leu1376Met) c.4090T>A (p.Leu1364Met) c.4201T>A (p.Leu1401Met) c.4165T>A (p.Leu1389Met) c.4123T>A (p.Leu1375Met) c.4087T>A (p.Leu1363Met) | |
| 19 | g.7117080G>A | CA505216065 | INSR | c.4125C>T (p.Thr1375=) c.4089C>T (p.Thr1363=) c.4200C>T (p.Thr1400=) c.4164C>T (p.Thr1388=) c.4122C>T (p.Thr1374=) c.4086C>T (p.Thr1362=) | |
| 19 | g.7117080G>C | CA505216064 | INSR | c.4125C>G (p.Thr1375=) c.4089C>G (p.Thr1363=) c.4200C>G (p.Thr1400=) c.4164C>G (p.Thr1388=) c.4122C>G (p.Thr1374=) c.4086C>G (p.Thr1362=) | |
| 19 | g.7117080G>T | CA505216063 | INSR | c.4125C>A (p.Thr1375=) c.4089C>A (p.Thr1363=) c.4200C>A (p.Thr1400=) c.4164C>A (p.Thr1388=) c.4122C>A (p.Thr1374=) c.4086C>A (p.Thr1362=) | |
| 19 | g.7117081G>A | CA403668242 | INSR | c.4124C>T (p.Thr1375Ile) c.4088C>T (p.Thr1363Ile) c.4199C>T (p.Thr1400Ile) c.4163C>T (p.Thr1388Ile) c.4121C>T (p.Thr1374Ile) c.4085C>T (p.Thr1362Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7117081G>C | CA403668241 | INSR | c.4124C>G (p.Thr1375Ser) c.4088C>G (p.Thr1363Ser) c.4199C>G (p.Thr1400Ser) c.4163C>G (p.Thr1388Ser) c.4121C>G (p.Thr1374Ser) c.4085C>G (p.Thr1362Ser) | |
| 19 | g.7117081G= | CA2320763994 | INSR | c.4124C= (p.Thr1375=) c.4088C= (p.Thr1363=) c.4199C= (p.Thr1400=) c.4163C= (p.Thr1388=) c.4121C= (p.Thr1374=) c.4085C= (p.Thr1362=) | |
| 19 | g.7117081G>T | CA403668240 | INSR | c.4124C>A (p.Thr1375Asn) c.4088C>A (p.Thr1363Asn) c.4199C>A (p.Thr1400Asn) c.4163C>A (p.Thr1388Asn) c.4121C>A (p.Thr1374Asn) c.4085C>A (p.Thr1362Asn) | |
| 19 | g.7117082T>A | CA403668245 | INSR | c.4123A>T (p.Thr1375Ser) c.4087A>T (p.Thr1363Ser) c.4198A>T (p.Thr1400Ser) c.4162A>T (p.Thr1388Ser) c.4120A>T (p.Thr1374Ser) c.4084A>T (p.Thr1362Ser) | COSMIC COSMIC |
| 19 | g.7117082T>C | CA403668243 | INSR | c.4123A>G (p.Thr1375Ala) c.4087A>G (p.Thr1363Ala) c.4198A>G (p.Thr1400Ala) c.4162A>G (p.Thr1388Ala) c.4120A>G (p.Thr1374Ala) c.4084A>G (p.Thr1362Ala) | |
| 19 | g.7117082T>G | CA403668244 | INSR | c.4123A>C (p.Thr1375Pro) c.4087A>C (p.Thr1363Pro) c.4198A>C (p.Thr1400Pro) c.4162A>C (p.Thr1388Pro) c.4120A>C (p.Thr1374Pro) c.4084A>C (p.Thr1362Pro) | |
| 19 | g.7117083C>A | CA505216070 | INSR | c.4122G>T (p.Leu1374=) c.4086G>T (p.Leu1362=) c.4197G>T (p.Leu1399=) c.4161G>T (p.Leu1387=) c.4119G>T (p.Leu1373=) c.4083G>T (p.Leu1361=) | dbSNP |
| 19 | g.7117083C= | CA2320763996 | INSR | c.4122G= (p.Leu1374=) c.4086G= (p.Leu1362=) c.4197G= (p.Leu1399=) c.4161G= (p.Leu1387=) c.4119G= (p.Leu1373=) c.4083G= (p.Leu1361=) | |
| 19 | g.7117083C>G | CA505216068 | INSR | c.4122G>C (p.Leu1374=) c.4086G>C (p.Leu1362=) c.4197G>C (p.Leu1399=) c.4161G>C (p.Leu1387=) c.4119G>C (p.Leu1373=) c.4083G>C (p.Leu1361=) | |
| 19 | g.7117083C>T | CA505216067 | INSR | c.4122G>A (p.Leu1374=) c.4086G>A (p.Leu1362=) c.4197G>A (p.Leu1399=) c.4161G>A (p.Leu1387=) c.4119G>A (p.Leu1373=) c.4083G>A (p.Leu1361=) | |
| 19 | g.7117084A>C | CA403668246 | INSR | c.4121T>G (p.Leu1374Arg) c.4085T>G (p.Leu1362Arg) c.4196T>G (p.Leu1399Arg) c.4160T>G (p.Leu1387Arg) c.4118T>G (p.Leu1373Arg) c.4082T>G (p.Leu1361Arg) | ClinVar |
| 19 | g.7117084A>G | CA403668247 | INSR | c.4121T>C (p.Leu1374Pro) c.4085T>C (p.Leu1362Pro) c.4196T>C (p.Leu1399Pro) c.4160T>C (p.Leu1387Pro) c.4118T>C (p.Leu1373Pro) c.4082T>C (p.Leu1361Pro) | |
| 19 | g.7117084A>T | CA403668248 | INSR | c.4121T>A (p.Leu1374Gln) c.4085T>A (p.Leu1362Gln) c.4196T>A (p.Leu1399Gln) c.4160T>A (p.Leu1387Gln) c.4118T>A (p.Leu1373Gln) c.4082T>A (p.Leu1361Gln) | |
| 19 | g.7117085G>A | CA505216072 | INSR | c.4120C>T (p.Leu1374=) c.4084C>T (p.Leu1362=) c.4195C>T (p.Leu1399=) c.4159C>T (p.Leu1387=) c.4117C>T (p.Leu1373=) c.4081C>T (p.Leu1361=) | dbSNP COSMIC COSMIC |
| 19 | g.7117085G>C | CA403668249 | INSR | c.4120C>G (p.Leu1374Val) c.4084C>G (p.Leu1362Val) c.4195C>G (p.Leu1399Val) c.4159C>G (p.Leu1387Val) c.4117C>G (p.Leu1373Val) c.4081C>G (p.Leu1361Val) | |
| 19 | g.7117085G= | CA2320763999 | INSR | c.4120C= (p.Leu1374=) c.4084C= (p.Leu1362=) c.4195C= (p.Leu1399=) c.4159C= (p.Leu1387=) c.4117C= (p.Leu1373=) c.4081C= (p.Leu1361=) | |
| 19 | g.7117085G>T | CA403668250 | INSR | c.4120C>A (p.Leu1374Met) c.4084C>A (p.Leu1362Met) c.4195C>A (p.Leu1399Met) c.4159C>A (p.Leu1387Met) c.4117C>A (p.Leu1373Met) c.4081C>A (p.Leu1361Met) | |
| 19 | g.7117086A>C | CA403668251 | INSR | c.4119T>G (p.Ile1373Met) c.4083T>G (p.Ile1361Met) c.4194T>G (p.Ile1398Met) c.4158T>G (p.Ile1386Met) c.4116T>G (p.Ile1372Met) c.4080T>G (p.Ile1360Met) | |
| 19 | g.7117086A>G | CA505216074 | INSR | c.4119T>C (p.Ile1373=) c.4083T>C (p.Ile1361=) c.4194T>C (p.Ile1398=) c.4158T>C (p.Ile1386=) c.4116T>C (p.Ile1372=) c.4080T>C (p.Ile1360=) | |
| 19 | g.7117086A>T | CA505216073 | INSR | c.4119T>A (p.Ile1373=) c.4083T>A (p.Ile1361=) c.4194T>A (p.Ile1398=) c.4158T>A (p.Ile1386=) c.4116T>A (p.Ile1372=) c.4080T>A (p.Ile1360=) | |
| 19 | g.7117087A>C | CA403668252 | INSR | c.4118T>G (p.Ile1373Ser) c.4082T>G (p.Ile1361Ser) c.4193T>G (p.Ile1398Ser) c.4157T>G (p.Ile1386Ser) c.4115T>G (p.Ile1372Ser) c.4079T>G (p.Ile1360Ser) | |
| 19 | g.7117087A>G | CA403668253 | INSR | c.4118T>C (p.Ile1373Thr) c.4082T>C (p.Ile1361Thr) c.4193T>C (p.Ile1398Thr) c.4157T>C (p.Ile1386Thr) c.4115T>C (p.Ile1372Thr) c.4079T>C (p.Ile1360Thr) | gnomAD v4 |
| 19 | g.7117087A>T | CA403668254 | INSR | c.4118T>A (p.Ile1373Asn) c.4082T>A (p.Ile1361Asn) c.4193T>A (p.Ile1398Asn) c.4157T>A (p.Ile1386Asn) c.4115T>A (p.Ile1372Asn) c.4079T>A (p.Ile1360Asn) | |
| 19 | g.7117088T>A | CA403668255 | INSR | c.4117A>T (p.Ile1373Phe) c.4081A>T (p.Ile1361Phe) c.4192A>T (p.Ile1398Phe) c.4156A>T (p.Ile1386Phe) c.4114A>T (p.Ile1372Phe) c.4078A>T (p.Ile1360Phe) | |
| 19 | g.7117088T>C | CA403668256 | INSR | c.4117A>G (p.Ile1373Val) c.4081A>G (p.Ile1361Val) c.4192A>G (p.Ile1398Val) c.4156A>G (p.Ile1386Val) c.4114A>G (p.Ile1372Val) c.4078A>G (p.Ile1360Val) | |
| 19 | g.7117088T>G | CA403668257 | INSR | c.4117A>C (p.Ile1373Leu) c.4081A>C (p.Ile1361Leu) c.4192A>C (p.Ile1398Leu) c.4156A>C (p.Ile1386Leu) c.4114A>C (p.Ile1372Leu) c.4078A>C (p.Ile1360Leu) | |
| 19 | g.7117089C>A | CA505216076 | INSR | c.4116G>T (p.Arg1372=) c.4080G>T (p.Arg1360=) c.4191G>T (p.Arg1397=) c.4155G>T (p.Arg1385=) c.4113G>T (p.Arg1371=) c.4077G>T (p.Arg1359=) | |
| 19 | g.7117089C= | CA2320764002 | INSR | c.4116G= (p.Arg1372=) c.4080G= (p.Arg1360=) c.4191G= (p.Arg1397=) c.4155G= (p.Arg1385=) c.4113G= (p.Arg1371=) c.4077G= (p.Arg1359=) | |
| 19 | g.7117089C>G | CA505216075 | INSR | c.4116G>C (p.Arg1372=) c.4080G>C (p.Arg1360=) c.4191G>C (p.Arg1397=) c.4155G>C (p.Arg1385=) c.4113G>C (p.Arg1371=) c.4077G>C (p.Arg1359=) | |
| 19 | g.7117089C>T | CA9135087 | INSR | c.4116G>A (p.Arg1372=) c.4080G>A (p.Arg1360=) c.4191G>A (p.Arg1397=) c.4155G>A (p.Arg1385=) c.4113G>A (p.Arg1371=) c.4077G>A (p.Arg1359=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |