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.7184449C>A | CA403669929 | INSR | c.841G>T (p.Val281Leu) n.816G>T c.919G>T (p.Val307Leu) | |
| 19 | g.7184449C>G | CA403669930 | INSR | c.841G>C (p.Val281Leu) n.816G>C c.919G>C (p.Val307Leu) | |
| 19 | g.7184449C>T | CA403669931 | INSR | c.841G>A (p.Val281Met) n.816G>A c.919G>A (p.Val307Met) | |
| 19 | g.7184450A= | CA2320796193 | INSR | c.840T= (p.Cys280=) n.815T= c.918T= (p.Cys306=) | |
| 19 | g.7184450A>C | CA403669932 | INSR | c.840T>G (p.Cys280Trp) n.815T>G c.918T>G (p.Cys306Trp) | |
| 19 | g.7184450A>G | CA505400427 | INSR | c.840T>C (p.Cys280=) n.815T>C c.918T>C (p.Cys306=) | dbSNP |
| 19 | g.7184450A>T | CA403669933 | INSR | c.840T>A (p.Cys280Ter) n.815T>A c.918T>A (p.Cys306Ter) | |
| 19 | g.7184451C>A | CA403669934 | INSR | c.839G>T (p.Cys280Phe) n.814G>T c.917G>T (p.Cys306Phe) | |
| 19 | g.7184451C= | CA2320796197 | INSR | c.839G= (p.Cys280=) n.814G= c.917G= (p.Cys306=) | |
| 19 | g.7184451C>G | CA403669935 | INSR | c.839G>C (p.Cys280Ser) n.814G>C c.917G>C (p.Cys306Ser) | dbSNP |
| 19 | g.7184451C>T | CA403669936 | INSR | c.839G>A (p.Cys280Tyr) n.814G>A c.917G>A (p.Cys306Tyr) | |
| 19 | g.7184452A>C | CA403669937 | INSR | c.838T>G (p.Cys280Gly) n.813T>G c.916T>G (p.Cys306Gly) | |
| 19 | g.7184452A>G | CA403669938 | INSR | c.838T>C (p.Cys280Arg) n.813T>C c.916T>C (p.Cys306Arg) | |
| 19 | g.7184452A>T | CA403669939 | INSR | c.838T>A (p.Cys280Ser) n.813T>A c.916T>A (p.Cys306Ser) | |
| 19 | g.7184453G>A | CA505400431 | INSR | c.837C>T (p.Arg279=) n.812C>T c.915C>T (p.Arg305=) | |
| 19 | g.7184453G>C | CA505400432 | INSR | c.837C>G (p.Arg279=) n.812C>G c.915C>G (p.Arg305=) | |
| 19 | g.7184453G>T | CA505400433 | INSR | c.837C>A (p.Arg279=) n.812C>A c.915C>A (p.Arg305=) | |
| 19 | g.7184454C>A | CA403669941 | INSR | c.836G>T (p.Arg279Leu) n.811G>T c.914G>T (p.Arg305Leu) | |
| 19 | g.7184454C= | CA2320796202 | INSR | c.836G= (p.Arg279=) n.811G= c.914G= (p.Arg305=) | |
| 19 | g.7184454C>G | CA403669942 | INSR | c.836G>C (p.Arg279Pro) n.811G>C c.914G>C (p.Arg305Pro) | |
| 19 | g.7184454C>T | CA403669940 | INSR | c.836G>A (p.Arg279His) n.811G>A c.914G>A (p.Arg305His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7184455G>A | CA403669945 | INSR | c.835C>T (p.Arg279Cys) n.810C>T c.913C>T (p.Arg305Cys) | dbSNP gnomAD v4 |
| 19 | g.7184455G>C | CA403669943 | INSR | c.835C>G (p.Arg279Gly) n.810C>G c.913C>G (p.Arg305Gly) | |
| 19 | g.7184455G= | CA2320796205 | INSR | c.835C= (p.Arg279=) n.810C= c.913C= (p.Arg305=) | |
| 19 | g.7184455G>T | CA403669944 | INSR | c.835C>A (p.Arg279Ser) n.810C>A c.913C>A (p.Arg305Ser) | gnomAD v4 |
| 19 | g.7184456C>A | CA403669946 | INSR | c.834G>T (p.Trp278Cys) n.809G>T c.912G>T (p.Trp304Cys) | |
| 19 | g.7184456C>G | CA403669947 | INSR | c.834G>C (p.Trp278Cys) n.809G>C c.912G>C (p.Trp304Cys) | |
| 19 | g.7184456C>T | CA403669948 | INSR | c.834G>A (p.Trp278Ter) n.809G>A c.912G>A (p.Trp304Ter) | |
| 19 | g.7184457C>A | CA403669949 | INSR | c.833G>T (p.Trp278Leu) n.808G>T c.911G>T (p.Trp304Leu) | |
| 19 | g.7184457C>G | CA403669950 | INSR | c.833G>C (p.Trp278Ser) n.808G>C c.911G>C (p.Trp304Ser) | |
| 19 | g.7184457C>T | CA403669951 | INSR | c.833G>A (p.Trp278Ter) n.808G>A c.911G>A (p.Trp304Ter) | |
| 19 | g.7184458A>C | CA403669952 | INSR | c.832T>G (p.Trp278Gly) n.807T>G c.910T>G (p.Trp304Gly) | |
| 19 | g.7184458A>G | CA403669953 | INSR | c.832T>C (p.Trp278Arg) n.807T>C c.910T>C (p.Trp304Arg) | gnomAD v4 |
| 19 | g.7184458A>T | CA403669954 | INSR | c.832T>A (p.Trp278Arg) n.807T>A c.910T>A (p.Trp304Arg) | |
| 19 | g.7184459G>A | CA505400436 | INSR | c.831C>T (p.Asp277=) n.806C>T c.909C>T (p.Asp303=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184459G>C | CA403669955 | INSR | c.831C>G (p.Asp277Glu) n.806C>G c.909C>G (p.Asp303Glu) | |
| 19 | g.7184459G= | CA2320796208 | INSR | c.831C= (p.Asp277=) n.806C= c.909C= (p.Asp303=) | |
| 19 | g.7184459G>T | CA403669956 | INSR | c.831C>A (p.Asp277Glu) n.806C>A c.909C>A (p.Asp303Glu) | |
| 19 | g.7184460T>A | CA403669959 | INSR | c.830A>T (p.Asp277Val) n.805A>T c.908A>T (p.Asp303Val) | |
| 19 | g.7184460T>C | CA403669957 | INSR | c.830A>G (p.Asp277Gly) n.805A>G c.908A>G (p.Asp303Gly) | |
| 19 | g.7184460T>G | CA403669958 | INSR | c.830A>C (p.Asp277Ala) n.805A>C c.908A>C (p.Asp303Ala) | |
| 19 | g.7184461C>A | CA403669960 | INSR | c.829G>T (p.Asp277Tyr) n.804G>T c.907G>T (p.Asp303Tyr) | |
| 19 | g.7184461C>G | CA403669961 | INSR | c.829G>C (p.Asp277His) n.804G>C c.907G>C (p.Asp303His) | |
| 19 | g.7184461C>T | CA403669962 | INSR | c.829G>A (p.Asp277Asn) n.804G>A c.907G>A (p.Asp303Asn) | COSMIC COSMIC |
| 19 | g.7184462C>A | CA403669963 | INSR | c.828G>T (p.Gln276His) n.803G>T c.906G>T (p.Gln302His) | gnomAD v4 |
| 19 | g.7184462C= | CA2320796211 | INSR | c.828G= (p.Gln276=) n.803G= c.906G= (p.Gln302=) | |
| 19 | g.7184462C>G | CA403669964 | INSR | c.828G>C (p.Gln276His) n.803G>C c.906G>C (p.Gln302His) | |
| 19 | g.7184462C>T | CA9135998 | INSR | c.828G>A (p.Gln276=) n.803G>A c.906G>A (p.Gln302=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184463T>A | CA403669965 | INSR | c.827A>T (p.Gln276Leu) n.802A>T c.905A>T (p.Gln302Leu) | |
| 19 | g.7184463T>C | CA403669966 | INSR | c.827A>G (p.Gln276Arg) n.802A>G c.905A>G (p.Gln302Arg) | |
| 19 | g.7184463T>G | CA403669967 | INSR | c.827A>C (p.Gln276Pro) n.802A>C c.905A>C (p.Gln302Pro) | |
| 19 | g.7184464G>A | CA403669968 | INSR | c.826C>T (p.Gln276Ter) n.801C>T c.904C>T (p.Gln302Ter) | COSMIC COSMIC |
| 19 | g.7184464G>C | CA403669969 | INSR | c.826C>G (p.Gln276Glu) n.801C>G c.904C>G (p.Gln302Glu) | |
| 19 | g.7184464G= | CA2320796216 | INSR | c.826C= (p.Gln276=) n.801C= c.904C= (p.Gln302=) | |
| 19 | g.7184464G>T | CA9135999 | INSR | c.826C>A (p.Gln276Lys) n.801C>A c.904C>A (p.Gln302Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184465G>A | CA505400443 | INSR | c.825C>T (p.Phe275=) n.800C>T c.903C>T (p.Phe301=) | |
| 19 | g.7184465G>C | CA403669971 | INSR | c.825C>G (p.Phe275Leu) n.800C>G c.903C>G (p.Phe301Leu) | |
| 19 | g.7184465G= | CA2320796220 | INSR | c.825C= (p.Phe275=) n.800C= c.903C= (p.Phe301=) | |
| 19 | g.7184465G>T | CA403669970 | INSR | c.825C>A (p.Phe275Leu) n.800C>A c.903C>A (p.Phe301Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184466A>C | CA403669972 | INSR | c.824T>G (p.Phe275Cys) n.799T>G c.902T>G (p.Phe301Cys) | |
| 19 | g.7184466A>G | CA403669973 | INSR | c.824T>C (p.Phe275Ser) n.799T>C c.902T>C (p.Phe301Ser) | |
| 19 | g.7184466A>T | CA403669974 | INSR | c.824T>A (p.Phe275Tyr) n.799T>A c.902T>A (p.Phe301Tyr) | |
| 19 | g.7184467A>C | CA403669975 | INSR | c.823T>G (p.Phe275Val) n.798T>G c.901T>G (p.Phe301Val) | |
| 19 | g.7184467A>G | CA403669976 | INSR | c.823T>C (p.Phe275Leu) n.798T>C c.901T>C (p.Phe301Leu) | |
| 19 | g.7184467A>T | CA403669977 | INSR | c.823T>A (p.Phe275Ile) n.798T>A c.901T>A (p.Phe301Ile) | |
| 19 | g.7184468G>A | CA304866565 | INSR | c.822C>T (p.His274=) n.797C>T c.900C>T (p.His300=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184468G>C | CA403669978 | INSR | c.822C>G (p.His274Gln) n.797C>G c.900C>G (p.His300Gln) | gnomAD v4 |
| 19 | g.7184468G= | CA2320796223 | INSR | c.822C= (p.His274=) n.797C= c.900C= (p.His300=) | |
| 19 | g.7184468G>T | CA403669979 | INSR | c.822C>A (p.His274Gln) n.797C>A c.900C>A (p.His300Gln) | |
| 19 | g.7184469T>A | CA403669980 | INSR | c.821A>T (p.His274Leu) n.796A>T c.899A>T (p.His300Leu) | |
| 19 | g.7184469T>C | CA403669981 | INSR | c.821A>G (p.His274Arg) n.796A>G c.899A>G (p.His300Arg) | |
| 19 | g.7184469T>G | CA403669982 | INSR | c.821A>C (p.His274Pro) n.796A>C c.899A>C (p.His300Pro) | |
| 19 | g.7184470G>A | CA403669983 | INSR | c.820C>T (p.His274Tyr) n.795C>T c.898C>T (p.His300Tyr) | |
| 19 | g.7184470G>C | CA403669984 | INSR | c.820C>G (p.His274Asp) n.795C>G c.898C>G (p.His300Asp) | dbSNP |
| 19 | g.7184470G= | CA2320796227 | INSR | c.820C= (p.His274=) n.795C= c.898C= (p.His300=) | |
| 19 | g.7184470G>T | CA403669985 | INSR | c.820C>A (p.His274Asn) n.795C>A c.898C>A (p.His300Asn) | |
| 19 | g.7184471G>A | CA505400449 | INSR | c.819C>T (p.Tyr273=) n.794C>T c.897C>T (p.Tyr299=) | dbSNP |
| 19 | g.7184471G>C | CA403669987 | INSR | c.819C>G (p.Tyr273Ter) n.794C>G c.897C>G (p.Tyr299Ter) | |
| 19 | g.7184471G= | CA2320796229 | INSR | c.819C= (p.Tyr273=) n.794C= c.897C= (p.Tyr299=) | |
| 19 | g.7184471G>T | CA403669986 | INSR | c.819C>A (p.Tyr273Ter) n.794C>A c.897C>A (p.Tyr299Ter) | |
| 19 | g.7184472T>A | CA403669988 | INSR | c.818A>T (p.Tyr273Phe) n.793A>T c.896A>T (p.Tyr299Phe) | |
| 19 | g.7184472T>C | CA403669989 | INSR | c.818A>G (p.Tyr273Cys) n.793A>G c.896A>G (p.Tyr299Cys) | |
| 19 | g.7184472T>G | CA403669990 | INSR | c.818A>C (p.Tyr273Ser) n.793A>C c.896A>C (p.Tyr299Ser) | |
| 19 | g.7184473A>C | CA403669991 | INSR | c.817T>G (p.Tyr273Asp) n.792T>G c.895T>G (p.Tyr299Asp) | |
| 19 | g.7184473A>G | CA403669992 | INSR | c.817T>C (p.Tyr273His) n.792T>C c.895T>C (p.Tyr299His) | |
| 19 | g.7184473A>T | CA403669993 | INSR | c.817T>A (p.Tyr273Asn) n.792T>A c.895T>A (p.Tyr299Asn) | |
| 19 | g.7184474G>A | CA505400452 | INSR | c.816C>T (p.Tyr272=) n.791C>T c.894C>T (p.Tyr298=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184474G>C | CA403669994 | INSR | c.816C>G (p.Tyr272Ter) n.791C>G c.894C>G (p.Tyr298Ter) | |
| 19 | g.7184474G= | CA2320796232 | INSR | c.816C= (p.Tyr272=) n.791C= c.894C= (p.Tyr298=) | |
| 19 | g.7184474G>T | CA403669995 | INSR | c.816C>A (p.Tyr272Ter) n.791C>A c.894C>A (p.Tyr298Ter) | |
| 19 | g.7184475T>A | CA403669996 | INSR | c.815A>T (p.Tyr272Phe) n.790A>T c.893A>T (p.Tyr298Phe) | |
| 19 | g.7184475T>C | CA403669997 | INSR | c.815A>G (p.Tyr272Cys) n.790A>G c.893A>G (p.Tyr298Cys) | gnomAD v4 |
| 19 | g.7184475T>G | CA403669998 | INSR | c.815A>C (p.Tyr272Ser) n.790A>C c.893A>C (p.Tyr298Ser) | |
| 19 | g.7184476A>C | CA403669999 | INSR | c.814T>G (p.Tyr272Asp) n.789T>G c.892T>G (p.Tyr298Asp) | |
| 19 | g.7184476A>G | CA403670000 | INSR | c.814T>C (p.Tyr272His) n.789T>C c.892T>C (p.Tyr298His) | gnomAD v4 COSMIC COSMIC |
| 19 | g.7184476A>T | CA403670001 | INSR | c.814T>A (p.Tyr272Asn) n.789T>A c.892T>A (p.Tyr298Asn) | |
| 19 | g.7184477C>A | CA505400456 | INSR | c.813G>T (p.Pro271=) n.788G>T c.891G>T (p.Pro297=) | |
| 19 | g.7184477C= | CA2320796235 | INSR | c.813G= (p.Pro271=) n.788G= c.891G= (p.Pro297=) | |
| 19 | g.7184477C>G | CA9136001 | INSR | c.813G>C (p.Pro271=) n.788G>C c.891G>C (p.Pro297=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184477C>T | CA9136000 | INSR | c.813G>A (p.Pro271=) n.788G>A c.891G>A (p.Pro297=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184478G>A | CA9136002 | INSR | c.812C>T (p.Pro271Leu) n.787C>T c.890C>T (p.Pro297Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7184478G>C | CA403670003 | INSR | c.812C>G (p.Pro271Arg) n.787C>G c.890C>G (p.Pro297Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7184478G= | CA2320796241 | INSR | c.812C= (p.Pro271=) n.787C= c.890C= (p.Pro297=) | |
| 19 | g.7184478G>T | CA403670002 | INSR | c.812C>A (p.Pro271Gln) n.787C>A c.890C>A (p.Pro297Gln) | gnomAD v4 |
| 19 | g.7184482dup | CA2813464192 | INSR | c.812dup (p.Tyr272ValfsTer?) n.787dup c.890dup (p.Tyr298ValfsTer?) | |
| 19 | g.7184479G>A | CA9136003 | INSR | c.811C>T (p.Pro271Ser) n.786C>T c.889C>T (p.Pro297Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184479G>C | CA403670005 | INSR | c.811C>G (p.Pro271Ala) n.786C>G c.889C>G (p.Pro297Ala) | |
| 19 | g.7184479G= | CA2320796248 | INSR | c.811C= (p.Pro271=) n.786C= c.889C= (p.Pro297=) | |
| 19 | g.7184479G>T | CA403670004 | INSR | c.811C>A (p.Pro271Thr) n.786C>A c.889C>A (p.Pro297Thr) | |
| 19 | g.7184480G>A | CA505400461 | INSR | c.810C>T (p.Pro270=) n.785C>T c.888C>T (p.Pro296=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7184480G>C | CA505400462 | INSR | c.810C>G (p.Pro270=) n.785C>G c.888C>G (p.Pro296=) | |
| 19 | g.7184480G= | CA2320796250 | INSR | c.810C= (p.Pro270=) n.785C= c.888C= (p.Pro296=) | |
| 19 | g.7184480G>T | CA505400463 | INSR | c.810C>A (p.Pro270=) n.785C>A c.888C>A (p.Pro296=) | |
| 19 | g.7184481G>A | CA403670006 | INSR | c.809C>T (p.Pro270Leu) n.784C>T c.887C>T (p.Pro296Leu) | dbSNP gnomAD v4 |
| 19 | g.7184481G>C | CA403670008 | INSR | c.809C>G (p.Pro270Arg) n.784C>G c.887C>G (p.Pro296Arg) | |
| 19 | g.7184481G= | CA2320796253 | INSR | c.809C= (p.Pro270=) n.784C= c.887C= (p.Pro296=) | |
| 19 | g.7184481G>T | CA403670007 | INSR | c.809C>A (p.Pro270His) n.784C>A c.887C>A (p.Pro296His) | |
| 19 | g.7184482G>A | CA9136004 | INSR | c.808C>T (p.Pro270Ser) n.783C>T c.886C>T (p.Pro296Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184482G>C | CA403670010 | INSR | c.808C>G (p.Pro270Ala) n.783C>G c.886C>G (p.Pro296Ala) | |
| 19 | g.7184482G= | CA2320796255 | INSR | c.808C= (p.Pro270=) n.783C= c.886C= (p.Pro296=) | |
| 19 | g.7184482G>T | CA403670009 | INSR | c.808C>A (p.Pro270Thr) n.783C>A c.886C>A (p.Pro296Thr) | |
| 19 | g.7184483C>A | CA505400466 | INSR | c.807G>T (p.Pro269=) n.782G>T c.885G>T (p.Pro295=) | |
| 19 | g.7184483C= | CA2320796257 | INSR | c.807G= (p.Pro269=) n.782G= c.885G= (p.Pro295=) | |
| 19 | g.7184483C>G | CA505400465 | INSR | c.807G>C (p.Pro269=) n.782G>C c.885G>C (p.Pro295=) | gnomAD v4 |
| 19 | g.7184483C>T | CA9136005 | INSR | c.807G>A (p.Pro269=) n.782G>A c.885G>A (p.Pro295=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184484G>A | CA403670012 | INSR | c.806C>T (p.Pro269Leu) n.781C>T c.884C>T (p.Pro295Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184484G>C | CA403670011 | INSR | c.806C>G (p.Pro269Arg) n.781C>G c.884C>G (p.Pro295Arg) | |
| 19 | g.7184484G= | CA2320796259 | INSR | c.806C= (p.Pro269=) n.781C= c.884C= (p.Pro295=) | |
| 19 | g.7184484G>T | CA403670013 | INSR | c.806C>A (p.Pro269Gln) n.781C>A c.884C>A (p.Pro295Gln) | gnomAD v4 |
| 19 | g.7184485G>A | CA403670014 | INSR | c.805C>T (p.Pro269Ser) n.780C>T c.883C>T (p.Pro295Ser) | |
| 19 | g.7184485G>C | CA403670015 | INSR | c.805C>G (p.Pro269Ala) n.780C>G c.883C>G (p.Pro295Ala) | |
| 19 | g.7184485G>T | CA403670016 | INSR | c.805C>A (p.Pro269Thr) n.780C>A c.883C>A (p.Pro295Thr) | |
| 19 | g.7184486G>A | CA9136006 | INSR | c.804C>T (p.Cys268=) n.779C>T c.882C>T (p.Cys294=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7184486G>C | CA403670017 | INSR | c.804C>G (p.Cys268Trp) n.779C>G c.882C>G (p.Cys294Trp) | |
| 19 | g.7184486G= | CA2320796262 | INSR | c.804C= (p.Cys268=) n.779C= c.882C= (p.Cys294=) | |
| 19 | g.7184486G>T | CA403670018 | INSR | c.804C>A (p.Cys268Ter) n.779C>A c.882C>A (p.Cys294Ter) | |
| 19 | g.7184487C>A | CA403670021 | INSR | c.803G>T (p.Cys268Phe) n.778G>T c.881G>T (p.Cys294Phe) | |
| 19 | g.7184487C>G | CA403670020 | INSR | c.803G>C (p.Cys268Ser) n.778G>C c.881G>C (p.Cys294Ser) | |
| 19 | g.7184487C>T | CA403670019 | INSR | c.803G>A (p.Cys268Tyr) n.778G>A c.881G>A (p.Cys294Tyr) | |
| 19 | g.7184488A>C | CA403670022 | INSR | c.802T>G (p.Cys268Gly) n.777T>G c.880T>G (p.Cys294Gly) | |
| 19 | g.7184488A>G | CA403670023 | INSR | c.802T>C (p.Cys268Arg) n.777T>C c.880T>C (p.Cys294Arg) | |
| 19 | g.7184488A>T | CA403670024 | INSR | c.802T>A (p.Cys268Ser) n.777T>A c.880T>A (p.Cys294Ser) | |
| 19 | g.7184489G>A | CA505400467 | INSR | c.801C>T (p.Thr267=) n.776C>T c.879C>T (p.Thr293=) | |
| 19 | g.7184489G>C | CA505400469 | INSR | c.801C>G (p.Thr267=) n.776C>G c.879C>G (p.Thr293=) | gnomAD v4 |
| 19 | g.7184489G>T | CA505400468 | INSR | c.801C>A (p.Thr267=) n.776C>A c.879C>A (p.Thr293=) | |
| 19 | g.7184490G>A | CA403670025 | INSR | c.800C>T (p.Thr267Ile) n.775C>T c.878C>T (p.Thr293Ile) | |
| 19 | g.7184490G>C | CA403670026 | INSR | c.800C>G (p.Thr267Ser) n.775C>G c.878C>G (p.Thr293Ser) | |
| 19 | g.7184490G>T | CA403670027 | INSR | c.800C>A (p.Thr267Asn) n.775C>A c.878C>A (p.Thr293Asn) | |
| 19 | g.7184491T>A | CA403670028 | INSR | c.799A>T (p.Thr267Ser) n.774A>T c.877A>T (p.Thr293Ser) | |
| 19 | g.7184491T>C | CA403670030 | INSR | c.799A>G (p.Thr267Ala) n.774A>G c.877A>G (p.Thr293Ala) | |
| 19 | g.7184491T>G | CA403670029 | INSR | c.799A>C (p.Thr267Pro) n.774A>C c.877A>C (p.Thr293Pro) | |
| 19 | g.7184492C>A | CA403670031 | INSR | c.798G>T (p.Glu266Asp) n.773G>T c.876G>T (p.Glu292Asp) | |
| 19 | g.7184492C>G | CA403670032 | INSR | c.798G>C (p.Glu266Asp) n.773G>C c.876G>C (p.Glu292Asp) | |
| 19 | g.7184492C>T | CA505400470 | INSR | c.798G>A (p.Glu266=) n.773G>A c.876G>A (p.Glu292=) | |
| 19 | g.7184493T>A | CA403670035 | INSR | c.797A>T (p.Glu266Val) n.772A>T c.875A>T (p.Glu292Val) | |
| 19 | g.7184493T>C | CA403670037 | INSR | c.797A>G (p.Glu266Gly) n.772A>G c.875A>G (p.Glu292Gly) | |
| 19 | g.7184493T>G | CA403670039 | INSR | c.797A>C (p.Glu266Ala) n.772A>C c.875A>C (p.Glu292Ala) | |
| 19 | g.7184494C>A | CA403670041 | INSR | c.796G>T (p.Glu266Ter) n.771G>T c.874G>T (p.Glu292Ter) | |
| 19 | g.7184494C= | CA2320796266 | INSR | c.796G= (p.Glu266=) n.771G= c.874G= (p.Glu292=) | |
| 19 | g.7184494C>G | CA403670044 | INSR | c.796G>C (p.Glu266Gln) n.771G>C c.874G>C (p.Glu292Gln) | |
| 19 | g.7184494C>T | CA9136007 | INSR | c.796G>A (p.Glu266Lys) n.771G>A c.874G>A (p.Glu292Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184495C>A | CA505400471 | INSR | c.795G>T (p.Val265=) n.770G>T c.873G>T (p.Val291=) | |
| 19 | g.7184495C= | CA2320796268 | INSR | c.795G= (p.Val265=) n.770G= c.873G= (p.Val291=) | |
| 19 | g.7184495C>G | CA505400472 | INSR | c.795G>C (p.Val265=) n.770G>C c.873G>C (p.Val291=) | |
| 19 | g.7184495C>T | CA505400473 | INSR | c.795G>A (p.Val265=) n.770G>A c.873G>A (p.Val291=) | dbSNP gnomAD v4 |
| 19 | g.7184496A>C | CA403670047 | INSR | c.794T>G (p.Val265Gly) n.769T>G c.872T>G (p.Val291Gly) | |
| 19 | g.7184496A>G | CA403670050 | INSR | c.794T>C (p.Val265Ala) n.769T>C c.872T>C (p.Val291Ala) | |
| 19 | g.7184496A>T | CA403670052 | INSR | c.794T>A (p.Val265Glu) n.769T>A c.872T>A (p.Val291Glu) | |
| 19 | g.7184497C>A | CA403670055 | INSR | c.793G>T (p.Val265Leu) n.768G>T c.871G>T (p.Val291Leu) | |
| 19 | g.7184497C= | CA2320796270 | INSR | c.793G= (p.Val265=) n.768G= c.871G= (p.Val291=) | |
| 19 | g.7184497C>G | CA403670058 | INSR | c.793G>C (p.Val265Leu) n.768G>C c.871G>C (p.Val291Leu) | dbSNP |
| 19 | g.7184497C>T | CA9136008 | INSR | c.793G>A (p.Val265Met) n.768G>A c.871G>A (p.Val291Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184498A= | CA2320796273 | INSR | c.792T= (p.Cys264=) n.767T= c.870T= (p.Cys290=) | |
| 19 | g.7184498A>C | CA403670061 | INSR | c.792T>G (p.Cys264Trp) n.767T>G c.870T>G (p.Cys290Trp) | |
| 19 | g.7184498A>G | CA9136009 | INSR | c.792T>C (p.Cys264=) n.767T>C c.870T>C (p.Cys290=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184498A>T | CA403670064 | INSR | c.792T>A (p.Cys264Ter) n.767T>A c.870T>A (p.Cys290Ter) | |
| 19 | g.7184499C>A | CA403670068 | INSR | c.791G>T (p.Cys264Phe) n.766G>T c.869G>T (p.Cys290Phe) | |
| 19 | g.7184499C>G | CA403670070 | INSR | c.791G>C (p.Cys264Ser) n.766G>C c.869G>C (p.Cys290Ser) | |
| 19 | g.7184499C>T | CA403670073 | INSR | c.791G>A (p.Cys264Tyr) n.766G>A c.869G>A (p.Cys290Tyr) | |
| 19 | g.7184500A>C | CA403670076 | INSR | c.790T>G (p.Cys264Gly) n.765T>G c.868T>G (p.Cys290Gly) | |
| 19 | g.7184500A>G | CA403670078 | INSR | c.790T>C (p.Cys264Arg) n.765T>C c.868T>C (p.Cys290Arg) | |
| 19 | g.7184500A>T | CA403670080 | INSR | c.790T>A (p.Cys264Ser) n.765T>A c.868T>A (p.Cys290Ser) | |
| 19 | g.7184501C>A | CA403670083 | INSR | c.789G>T (p.Arg263Ser) n.764G>T c.867G>T (p.Arg289Ser) | |
| 19 | g.7184501C= | CA2320796276 | INSR | c.789G= (p.Arg263=) n.764G= c.867G= (p.Arg289=) | |
| 19 | g.7184501C>G | CA403670085 | INSR | c.789G>C (p.Arg263Ser) n.764G>C c.867G>C (p.Arg289Ser) | |
| 19 | g.7184501C>T | CA505400474 | INSR | c.789G>A (p.Arg263=) n.764G>A c.867G>A (p.Arg289=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7184502C>A | CA403670088 | INSR | c.788G>T (p.Arg263Met) n.763G>T c.866G>T (p.Arg289Met) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7184502C= | CA2320796280 | INSR | c.788G= (p.Arg263=) n.763G= c.866G= (p.Arg289=) | |
| 19 | g.7184502C>G | CA9136010 | INSR | c.788G>C (p.Arg263Thr) n.763G>C c.866G>C (p.Arg289Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184502C>T | CA403670086 | INSR | c.788G>A (p.Arg263Lys) n.763G>A c.866G>A (p.Arg289Lys) | |
| 19 | g.7184503T>A | CA403670090 | INSR | c.787A>T (p.Arg263Trp) n.762A>T c.865A>T (p.Arg289Trp) | |
| 19 | g.7184503T>C | CA403670092 | INSR | c.787A>G (p.Arg263Gly) n.762A>G c.865A>G (p.Arg289Gly) | |
| 19 | g.7184503T>G | CA505400475 | INSR | c.787A>C (p.Arg263=) n.762A>C c.865A>C (p.Arg289=) | |
| 19 | g.7184504G>A | CA505400476 | INSR | c.786C>T (p.Gly262=) n.761C>T c.864C>T (p.Gly288=) | |
| 19 | g.7184504G>C | CA505400477 | INSR | c.786C>G (p.Gly262=) n.761C>G c.864C>G (p.Gly288=) | |
| 19 | g.7184504G>T | CA505400478 | INSR | c.786C>A (p.Gly262=) n.761C>A c.864C>A (p.Gly288=) | |
| 19 | g.7184505C>A | CA403670095 | INSR | c.785G>T (p.Gly262Val) n.760G>T c.863G>T (p.Gly288Val) | |
| 19 | g.7184505C= | CA2320796283 | INSR | c.785G= (p.Gly262=) n.760G= c.863G= (p.Gly288=) | |
| 19 | g.7184505C>G | CA403670097 | INSR | c.785G>C (p.Gly262Ala) n.760G>C c.863G>C (p.Gly288Ala) | |
| 19 | g.7184505C>T | CA9136011 | INSR | c.785G>A (p.Gly262Asp) n.760G>A c.863G>A (p.Gly288Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184506C>A | CA403670101 | INSR | c.784G>T (p.Gly262Cys) n.759G>T c.862G>T (p.Gly288Cys) | |
| 19 | g.7184506C= | CA2320796286 | INSR | c.784G= (p.Gly262=) n.759G= c.862G= (p.Gly288=) | |
| 19 | g.7184506C>G | CA403670104 | INSR | c.784G>C (p.Gly262Arg) n.759G>C c.862G>C (p.Gly288Arg) | |
| 19 | g.7184506C>T | CA9136012 | INSR | c.784G>A (p.Gly262Ser) n.759G>A c.862G>A (p.Gly288Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184507G>A | CA9136013 | INSR | c.783C>T (p.Asp261=) n.758C>T c.861C>T (p.Asp287=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184507G>C | CA9136014 | INSR | c.783C>G (p.Asp261Glu) n.758C>G c.861C>G (p.Asp287Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184507G= | CA2320796296 | INSR | c.783C= (p.Asp261=) n.758C= c.861C= (p.Asp287=) | |
| 19 | g.7184507G>T | CA304866609 | INSR | c.783C>A (p.Asp261Glu) n.758C>A c.861C>A (p.Asp287Glu) | dbSNP |
| 19 | g.7184508T>A | CA403670116 | INSR | c.782A>T (p.Asp261Val) n.757A>T c.860A>T (p.Asp287Val) | |
| 19 | g.7184508T>C | CA403670113 | INSR | c.782A>G (p.Asp261Gly) n.757A>G c.860A>G (p.Asp287Gly) | |
| 19 | g.7184508T>G | CA403670111 | INSR | c.782A>C (p.Asp261Ala) n.757A>C c.860A>C (p.Asp287Ala) | |
| 19 | g.7184509C>A | CA304866610 | INSR | c.781G>T (p.Asp261Tyr) n.756G>T c.859G>T (p.Asp287Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184509C= | CA2320796300 | INSR | c.781G= (p.Asp261=) n.756G= c.859G= (p.Asp287=) | |
| 19 | g.7184509C>G | CA403670120 | INSR | c.781G>C (p.Asp261His) n.756G>C c.859G>C (p.Asp287His) | |
| 19 | g.7184509C>T | CA403670122 | INSR | c.781G>A (p.Asp261Asn) n.756G>A c.859G>A (p.Asp287Asn) | dbSNP gnomAD v4 |
| 19 | g.7184510C>A | CA505400481 | INSR | c.780G>T (p.Leu260=) n.755G>T c.858G>T (p.Leu286=) | |
| 19 | g.7184510C>G | CA505400479 | INSR | c.780G>C (p.Leu260=) n.755G>C c.858G>C (p.Leu286=) | |
| 19 | g.7184510C>T | CA505400480 | INSR | c.780G>A (p.Leu260=) n.755G>A c.858G>A (p.Leu286=) | gnomAD v4 |
| 19 | g.7184511A= | CA2320796303 | INSR | c.779T= (p.Leu260=) n.754T= c.857T= (p.Leu286=) | |
| 19 | g.7184511A>C | CA403670124 | INSR | c.779T>G (p.Leu260Arg) n.754T>G c.857T>G (p.Leu286Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7184511A>G | CA124227 | INSR | c.779T>C (p.Leu260Pro) n.754T>C c.857T>C (p.Leu286Pro) | ClinVar dbSNP |
| 19 | g.7184511A>T | CA403670128 | INSR | c.779T>A (p.Leu260Gln) n.754T>A c.857T>A (p.Leu286Gln) | |
| 19 | g.7184512G>A | CA505400482 | INSR | c.778C>T (p.Leu260=) n.753C>T c.856C>T (p.Leu286=) | COSMIC COSMIC |
| 19 | g.7184512G>C | CA403670131 | INSR | c.778C>G (p.Leu260Val) n.753C>G c.856C>G (p.Leu286Val) | |
| 19 | g.7184512G>T | CA403670133 | INSR | c.778C>A (p.Leu260Met) n.753C>A c.856C>A (p.Leu286Met) | gnomAD v4 |
| 19 | g.7184513G>A | CA505400483 | INSR | c.777C>T (p.Tyr259=) n.752C>T c.855C>T (p.Tyr285=) | dbSNP |
| 19 | g.7184513G>C | CA403670135 | INSR | c.777C>G (p.Tyr259Ter) n.752C>G c.855C>G (p.Tyr285Ter) | gnomAD v4 |
| 19 | g.7184513G= | CA2320796310 | INSR | c.777C= (p.Tyr259=) n.752C= c.855C= (p.Tyr285=) | |
| 19 | g.7184513G>T | CA403670138 | INSR | c.777C>A (p.Tyr259Ter) n.752C>A c.855C>A (p.Tyr285Ter) | |
| 19 | g.7184514T>A | CA403670141 | INSR | c.776A>T (p.Tyr259Phe) n.751A>T c.854A>T (p.Tyr285Phe) | |
| 19 | g.7184514T>C | CA403670142 | INSR | c.776A>G (p.Tyr259Cys) n.751A>G c.854A>G (p.Tyr285Cys) | gnomAD v4 |
| 19 | g.7184514T>G | CA403670143 | INSR | c.776A>C (p.Tyr259Ser) n.751A>C c.854A>C (p.Tyr285Ser) | |
| 19 | g.7184515A>C | CA403670150 | INSR | c.775T>G (p.Tyr259Asp) n.750T>G c.853T>G (p.Tyr285Asp) | |
| 19 | g.7184515A>G | CA403670147 | INSR | c.775T>C (p.Tyr259His) n.750T>C c.853T>C (p.Tyr285His) | |
| 19 | g.7184515A>T | CA403670145 | INSR | c.775T>A (p.Tyr259Asn) n.750T>A c.853T>A (p.Tyr285Asn) | |
| 19 | g.7184516G>A | CA505400484 | INSR | c.774C>T (p.Phe258=) n.749C>T c.852C>T (p.Phe284=) | COSMIC COSMIC |
| 19 | g.7184516G>C | CA403670153 | INSR | c.774C>G (p.Phe258Leu) n.749C>G c.852C>G (p.Phe284Leu) | |
| 19 | g.7184516G>T | CA403670154 | INSR | c.774C>A (p.Phe258Leu) n.749C>A c.852C>A (p.Phe284Leu) | |
| 19 | g.7184517A>C | CA403670158 | INSR | c.773T>G (p.Phe258Cys) n.748T>G c.851T>G (p.Phe284Cys) | |
| 19 | g.7184517A>G | CA403670160 | INSR | c.773T>C (p.Phe258Ser) n.748T>C c.851T>C (p.Phe284Ser) | COSMIC COSMIC |
| 19 | g.7184517A>T | CA403670162 | INSR | c.773T>A (p.Phe258Tyr) n.748T>A c.851T>A (p.Phe284Tyr) | |
| 19 | g.7184518A>C | CA403670166 | INSR | c.772T>G (p.Phe258Val) n.747T>G c.850T>G (p.Phe284Val) | |
| 19 | g.7184518A>G | CA403670168 | INSR | c.772T>C (p.Phe258Leu) n.747T>C c.850T>C (p.Phe284Leu) | dbSNP |
| 19 | g.7184518A>T | CA403670170 | INSR | c.772T>A (p.Phe258Ile) n.747T>A c.850T>A (p.Phe284Ile) | |
| 19 | g.7184519G>A | CA505400485 | INSR | c.771C>T (p.Asn257=) n.746C>T c.849C>T (p.Asn283=) | |
| 19 | g.7184519G>C | CA403670174 | INSR | c.771C>G (p.Asn257Lys) n.746C>G c.849C>G (p.Asn283Lys) | |
| 19 | g.7184519G>T | CA403670176 | INSR | c.771C>A (p.Asn257Lys) n.746C>A c.849C>A (p.Asn283Lys) | |
| 19 | g.7184520T>A | CA403670179 | INSR | c.770A>T (p.Asn257Ile) n.745A>T c.848A>T (p.Asn283Ile) | |
| 19 | g.7184520T>C | CA9136015 | INSR | c.770A>G (p.Asn257Ser) n.745A>G c.848A>G (p.Asn283Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184520T>G | CA403670182 | INSR | c.770A>C (p.Asn257Thr) n.745A>C c.848A>C (p.Asn283Thr) | |
| 19 | g.7184520T= | CA2320796312 | INSR | c.770A= (p.Asn257=) n.745A= c.848A= (p.Asn283=) | |
| 19 | g.7184520_7184524delinsTTGCG | CA2320796313 | INSR | c.766_770delinsCGCAA (p.Arg256=) n.741_745delinsCGCAA c.844_848delinsCGCAA (p.Arg282=) | |
| 19 | g.7184521T>A | CA403670187 | INSR | c.769A>T (p.Asn257Tyr) n.744A>T c.847A>T (p.Asn283Tyr) | |
| 19 | g.7184521T>C | CA403670189 | INSR | c.769A>G (p.Asn257Asp) n.744A>G c.847A>G (p.Asn283Asp) | |
| 19 | g.7184521T>G | CA403670185 | INSR | c.769A>C (p.Asn257His) n.744A>C c.847A>C (p.Asn283His) | |
| 19 | g.7184521_7184524del | CA884188108 | INSR | c.766_769del (p.Arg256ThrfsTer25) n.741_744del c.844_847del (p.Arg282ThrfsTer25) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184522G>A | CA505400486 | INSR | c.768C>T (p.Arg256=) n.743C>T c.846C>T (p.Arg282=) | |
| 19 | g.7184522G>C | CA505400487 | INSR | c.768C>G (p.Arg256=) n.743C>G c.846C>G (p.Arg282=) | |
| 19 | g.7184522G= | CA2320796314 | INSR | c.768C= (p.Arg256=) n.743C= c.846C= (p.Arg282=) | |
| 19 | g.7184522G>T | CA505400488 | INSR | c.768C>A (p.Arg256=) n.743C>A c.846C>A (p.Arg282=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184523C>A | CA403670193 | INSR | c.767G>T (p.Arg256Leu) n.742G>T c.845G>T (p.Arg282Leu) | gnomAD v4 |
| 19 | g.7184523C= | CA2320796315 | INSR | c.767G= (p.Arg256=) n.742G= c.845G= (p.Arg282=) | |
| 19 | g.7184523C>G | CA403670194 | INSR | c.767G>C (p.Arg256Pro) n.742G>C c.845G>C (p.Arg282Pro) | gnomAD v4 |
| 19 | g.7184523C>T | CA9136016 | INSR | c.767G>A (p.Arg256His) n.742G>A c.845G>A (p.Arg282His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184523_7184524insCA | CA2580612154 | INSR | c.766_767insTG (p.Arg256LeufsTer27) n.741_742insTG c.844_845insTG (p.Arg282LeufsTer27) | |
| 19 | g.7184524G>A | CA9136017 | INSR | c.766C>T (p.Arg256Cys) n.741C>T c.844C>T (p.Arg282Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184524G>C | CA403670201 | INSR | c.766C>G (p.Arg256Gly) n.741C>G c.844C>G (p.Arg282Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7184524G= | CA2320796316 | INSR | c.766C= (p.Arg256=) n.741C= c.844C= (p.Arg282=) | |
| 19 | g.7184524G>T | CA403670203 | INSR | c.766C>A (p.Arg256Ser) n.741C>A c.844C>A (p.Arg282Ser) | |
| 19 | g.7184525G>A | CA505400489 | INSR | c.765C>T (p.Cys255=) n.740C>T c.843C>T (p.Cys281=) | |
| 19 | g.7184525G>C | CA403670204 | INSR | c.765C>G (p.Cys255Trp) n.740C>G c.843C>G (p.Cys281Trp) | |
| 19 | g.7184525G>T | CA403670206 | INSR | c.765C>A (p.Cys255Ter) n.740C>A c.843C>A (p.Cys281Ter) | |
| 19 | g.7184526C>A | CA403670209 | INSR | c.764G>T (p.Cys255Phe) n.739G>T c.842G>T (p.Cys281Phe) | gnomAD v4 |
| 19 | g.7184526C>G | CA403670212 | INSR | c.764G>C (p.Cys255Ser) n.739G>C c.842G>C (p.Cys281Ser) | |
| 19 | g.7184526C>T | CA403670214 | INSR | c.764G>A (p.Cys255Tyr) n.739G>A c.842G>A (p.Cys281Tyr) | |
| 19 | g.7184527A>C | CA403670221 | INSR | c.763T>G (p.Cys255Gly) n.738T>G c.841T>G (p.Cys281Gly) | |
| 19 | g.7184527A>G | CA403670219 | INSR | c.763T>C (p.Cys255Arg) n.738T>C c.841T>C (p.Cys281Arg) | |
| 19 | g.7184527A>T | CA403670218 | INSR | c.763T>A (p.Cys255Ser) n.738T>A c.841T>A (p.Cys281Ser) | |
| 19 | g.7184528G>A | CA505400490 | INSR | c.762C>T (p.Ala254=) n.737C>T c.840C>T (p.Ala280=) | |
| 19 | g.7184528G>C | CA505400491 | INSR | c.762C>G (p.Ala254=) n.737C>G c.840C>G (p.Ala280=) | |
| 19 | g.7184528G>T | CA505400492 | INSR | c.762C>A (p.Ala254=) n.737C>A c.840C>A (p.Ala280=) | |
| 19 | g.7184529G>A | CA403670224 | INSR | c.761C>T (p.Ala254Val) n.736C>T c.839C>T (p.Ala280Val) | |
| 19 | g.7184529G>C | CA403670226 | INSR | c.761C>G (p.Ala254Gly) n.736C>G c.839C>G (p.Ala280Gly) | |
| 19 | g.7184529G>T | CA403670228 | INSR | c.761C>A (p.Ala254Asp) n.736C>A c.839C>A (p.Ala280Asp) | |
| 19 | g.7184530C>A | CA403670231 | INSR | c.760G>T (p.Ala254Ser) n.735G>T c.838G>T (p.Ala280Ser) | |
| 19 | g.7184530C>G | CA403670233 | INSR | c.760G>C (p.Ala254Pro) n.735G>C c.838G>C (p.Ala280Pro) | gnomAD v4 |
| 19 | g.7184530C>T | CA403670235 | INSR | c.760G>A (p.Ala254Thr) n.735G>A c.838G>A (p.Ala280Thr) | |
| 19 | g.7184531C>A | CA505400495 | INSR | c.759G>T (p.Val253=) n.734G>T c.837G>T (p.Val279=) | |
| 19 | g.7184531C>G | CA505400493 | INSR | c.759G>C (p.Val253=) n.734G>C c.837G>C (p.Val279=) | |
| 19 | g.7184531C>T | CA505400494 | INSR | c.759G>A (p.Val253=) n.734G>A c.837G>A (p.Val279=) | |
| 19 | g.7184532A= | CA2320796317 | INSR | c.758T= (p.Val253=) n.733T= c.836T= (p.Val279=) | |
| 19 | g.7184532A>C | CA403670238 | INSR | c.758T>G (p.Val253Gly) n.733T>G c.836T>G (p.Val279Gly) | |
| 19 | g.7184532A>G | CA403670240 | INSR | c.758T>C (p.Val253Ala) n.733T>C c.836T>C (p.Val279Ala) | |
| 19 | g.7184532A>T | CA9136018 | INSR | c.758T>A (p.Val253Glu) n.733T>A c.836T>A (p.Val279Glu) | dbSNP ExAC gnomAD v2 |
| 19 | g.7184533C>A | CA403670245 | INSR | c.757G>T (p.Val253Leu) n.732G>T c.835G>T (p.Val279Leu) | |
| 19 | g.7184533C= | CA2320796318 | INSR | c.757G= (p.Val253=) n.732G= c.835G= (p.Val279=) | |
| 19 | g.7184533C>G | CA403670247 | INSR | c.757G>C (p.Val253Leu) n.732G>C c.835G>C (p.Val279Leu) | |
| 19 | g.7184533C>T | CA403670248 | INSR | c.757G>A (p.Val253Met) n.732G>A c.835G>A (p.Val279Met) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184534G>A | CA9136019 | INSR | c.756C>T (p.Cys252=) n.731C>T c.834C>T (p.Cys278=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7184534G>C | CA403670254 | INSR | c.756C>G (p.Cys252Trp) n.731C>G c.834C>G (p.Cys278Trp) | |
| 19 | g.7184534G= | CA2320796319 | INSR | c.756C= (p.Cys252=) n.731C= c.834C= (p.Cys278=) | |
| 19 | g.7184534G>T | CA403670251 | INSR | c.756C>A (p.Cys252Ter) n.731C>A c.834C>A (p.Cys278Ter) | |
| 19 | g.7184535C>A | CA403670256 | INSR | c.755G>T (p.Cys252Phe) n.730G>T c.833G>T (p.Cys278Phe) | |
| 19 | g.7184535C= | CA2320796320 | INSR | c.755G= (p.Cys252=) n.730G= c.833G= (p.Cys278=) | |
| 19 | g.7184535C>G | CA304866645 | INSR | c.755G>C (p.Cys252Ser) n.730G>C c.833G>C (p.Cys278Ser) | dbSNP gnomAD v4 |
| 19 | g.7184535C>T | CA403670257 | INSR | c.755G>A (p.Cys252Tyr) n.730G>A c.833G>A (p.Cys278Tyr) | gnomAD v4 |
| 19 | g.7184536A= | CA2320796321 | INSR | c.754T= (p.Cys252=) n.729T= c.832T= (p.Cys278=) | |
| 19 | g.7184536A>C | CA403670258 | INSR | c.754T>G (p.Cys252Gly) n.729T>G c.832T>G (p.Cys278Gly) | dbSNP gnomAD v2 |
| 19 | g.7184536A>G | CA403670259 | INSR | c.754T>C (p.Cys252Arg) n.729T>C c.832T>C (p.Cys278Arg) | gnomAD v4 |
| 19 | g.7184536A>T | CA403670260 | INSR | c.754T>A (p.Cys252Ser) n.729T>A c.832T>A (p.Cys278Ser) | |
| 19 | g.7184537C>A | CA403670261 | INSR | c.753G>T (p.Lys251Asn) n.728G>T c.831G>T (p.Lys277Asn) | |
| 19 | g.7184537C= | CA2320796322 | INSR | c.753G= (p.Lys251=) n.728G= c.831G= (p.Lys277=) | |
| 19 | g.7184537C>G | CA403670262 | INSR | c.753G>C (p.Lys251Asn) n.728G>C c.831G>C (p.Lys277Asn) | dbSNP |
| 19 | g.7184537C>T | CA505400496 | INSR | c.753G>A (p.Lys251=) n.728G>A c.831G>A (p.Lys277=) | gnomAD v4 |
| 19 | g.7184538T>A | CA403670263 | INSR | c.752A>T (p.Lys251Met) n.727A>T c.830A>T (p.Lys277Met) | |
| 19 | g.7184538T>C | CA403670264 | INSR | c.752A>G (p.Lys251Arg) n.727A>G c.830A>G (p.Lys277Arg) | |
| 19 | g.7184538T>G | CA403670265 | INSR | c.752A>C (p.Lys251Thr) n.727A>C c.830A>C (p.Lys277Thr) | |
| 19 | g.7184539T>A | CA403670266 | INSR | c.751A>T (p.Lys251Ter) n.726A>T c.829A>T (p.Lys277Ter) | |
| 19 | g.7184539T>C | CA403670267 | INSR | c.751A>G (p.Lys251Glu) n.726A>G c.829A>G (p.Lys277Glu) | |
| 19 | g.7184539T>G | CA403670268 | INSR | c.751A>C (p.Lys251Gln) n.726A>C c.829A>C (p.Lys277Gln) | |
| 19 | g.7184542_7184544del | CA2695228027 | INSR | c.749_751del (p.Thr250del) n.724_726del c.827_829del (p.Thr276del) | |
| 19 | g.7184540G>A | CA505400497 | INSR | c.750C>T (p.Thr250=) n.725C>T c.828C>T (p.Thr276=) | |
| 19 | g.7184540G>C | CA505400498 | INSR | c.750C>G (p.Thr250=) n.725C>G c.828C>G (p.Thr276=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7184540G= | CA2320796323 | INSR | c.750C= (p.Thr250=) n.725C= c.828C= (p.Thr276=) | |
| 19 | g.7184540G>T | CA505400499 | INSR | c.750C>A (p.Thr250=) n.725C>A c.828C>A (p.Thr276=) | |
| 19 | g.7184541G>A | CA403670274 | INSR | c.749C>T (p.Thr250Ile) n.724C>T c.827C>T (p.Thr276Ile) | |
| 19 | g.7184541G>C | CA403670272 | INSR | c.749C>G (p.Thr250Ser) n.724C>G c.827C>G (p.Thr276Ser) | |
| 19 | g.7184541G>T | CA403670270 | INSR | c.749C>A (p.Thr250Asn) n.724C>A c.827C>A (p.Thr276Asn) | |
| 19 | g.7184542T>A | CA403670277 | INSR | c.748A>T (p.Thr250Ser) n.723A>T c.826A>T (p.Thr276Ser) | |
| 19 | g.7184542T>C | CA403670279 | INSR | c.748A>G (p.Thr250Ala) n.723A>G c.826A>G (p.Thr276Ala) | |
| 19 | g.7184542T>G | CA403670281 | INSR | c.748A>C (p.Thr250Pro) n.723A>C c.826A>C (p.Thr276Pro) | gnomAD v4 |
| 19 | g.7184543G>A | CA505400500 | INSR | c.747C>T (p.Pro249=) n.722C>T c.825C>T (p.Pro275=) | |
| 19 | g.7184543G>C | CA505400501 | INSR | c.747C>G (p.Pro249=) n.722C>G c.825C>G (p.Pro275=) | |
| 19 | g.7184543G= | CA2320796324 | INSR | c.747C= (p.Pro249=) n.722C= c.825C= (p.Pro275=) | |
| 19 | g.7184543G>T | CA304866646 | INSR | c.747C>A (p.Pro249=) n.722C>A c.825C>A (p.Pro275=) | dbSNP |
| 19 | g.7184544G>A | CA403670285 | INSR | c.746C>T (p.Pro249Leu) n.721C>T c.824C>T (p.Pro275Leu) | |
| 19 | g.7184544G>C | CA403670287 | INSR | c.746C>G (p.Pro249Arg) n.721C>G c.824C>G (p.Pro275Arg) | |
| 19 | g.7184544G>T | CA403670289 | INSR | c.746C>A (p.Pro249His) n.721C>A c.824C>A (p.Pro275His) | gnomAD v4 |
| 19 | g.7184545G>A | CA403670292 | INSR | c.745C>T (p.Pro249Ser) n.720C>T c.823C>T (p.Pro275Ser) | COSMIC COSMIC |
| 19 | g.7184545G>C | CA403670294 | INSR | c.745C>G (p.Pro249Ala) n.720C>G c.823C>G (p.Pro275Ala) | |
| 19 | g.7184545G>T | CA403670296 | INSR | c.745C>A (p.Pro249Thr) n.720C>A c.823C>A (p.Pro275Thr) | |
| 19 | g.7184546G>A | CA505400502 | INSR | c.744C>T (p.Asp248=) n.719C>T c.822C>T (p.Asp274=) | dbSNP gnomAD v4 |
| 19 | g.7184546G>C | CA403670299 | INSR | c.744C>G (p.Asp248Glu) n.719C>G c.822C>G (p.Asp274Glu) | |
| 19 | g.7184546G= | CA2320796325 | INSR | c.744C= (p.Asp248=) n.719C= c.822C= (p.Asp274=) | |
| 19 | g.7184546G>T | CA403670301 | INSR | c.744C>A (p.Asp248Glu) n.719C>A c.822C>A (p.Asp274Glu) | |
| 19 | g.7184547T>A | CA403670305 | INSR | c.743A>T (p.Asp248Val) n.718A>T c.821A>T (p.Asp274Val) | |
| 19 | g.7184547T>C | CA403670308 | INSR | c.743A>G (p.Asp248Gly) n.718A>G c.821A>G (p.Asp274Gly) | |
| 19 | g.7184547T>G | CA304866647 | INSR | c.743A>C (p.Asp248Ala) n.718A>C c.821A>C (p.Asp274Ala) | dbSNP |
| 19 | g.7184547T= | CA2320796326 | INSR | c.743A= (p.Asp248=) n.718A= c.821A= (p.Asp274=) | |
| 19 | g.7184548C>A | CA403670310 | INSR | c.742G>T (p.Asp248Tyr) n.717G>T c.820G>T (p.Asp274Tyr) | |
| 19 | g.7184548C= | CA2320796327 | INSR | c.742G= (p.Asp248=) n.717G= c.820G= (p.Asp274=) | |
| 19 | g.7184548C>G | CA403670313 | INSR | c.742G>C (p.Asp248His) n.717G>C c.820G>C (p.Asp274His) | |
| 19 | g.7184548C>T | CA9136020 | INSR | c.742G>A (p.Asp248Asn) n.717G>A c.820G>A (p.Asp274Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7184549G>A | CA9136021 | INSR | c.741C>T (p.Asp247=) n.716C>T c.819C>T (p.Asp273=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7184549G>C | CA403670318 | INSR | c.741C>G (p.Asp247Glu) n.716C>G c.819C>G (p.Asp273Glu) | |
| 19 | g.7184549G= | CA2320796328 | INSR | c.741C= (p.Asp247=) n.716C= c.819C= (p.Asp273=) | |
| 19 | g.7184549G>T | CA403670320 | INSR | c.741C>A (p.Asp247Glu) n.716C>A c.819C>A (p.Asp273Glu) | gnomAD v4 |