Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.7119475A>C | CA403669056 | INSR | c.3768T>G (p.Asp1256Glu) c.3732T>G (p.Asp1244Glu) c.3843T>G (p.Asp1281Glu) c.3807T>G (p.Asp1269Glu) c.3765T>G (p.Asp1255Glu) c.3729T>G (p.Asp1243Glu) | |
19 | g.7119475A>G | CA505216435 | INSR | c.3768T>C (p.Asp1256=) c.3732T>C (p.Asp1244=) c.3843T>C (p.Asp1281=) c.3807T>C (p.Asp1269=) c.3765T>C (p.Asp1255=) c.3729T>C (p.Asp1243=) | |
19 | g.7119475A>T | CA403669057 | INSR | c.3768T>A (p.Asp1256Glu) c.3732T>A (p.Asp1244Glu) c.3843T>A (p.Asp1281Glu) c.3807T>A (p.Asp1269Glu) c.3765T>A (p.Asp1255Glu) c.3729T>A (p.Asp1243Glu) | |
19 | g.7119476T>A | CA403669058 | INSR | c.3767A>T (p.Asp1256Val) c.3731A>T (p.Asp1244Val) c.3842A>T (p.Asp1281Val) c.3806A>T (p.Asp1269Val) c.3764A>T (p.Asp1255Val) c.3728A>T (p.Asp1243Val) | |
19 | g.7119476T>C | CA403669059 | INSR | c.3767A>G (p.Asp1256Gly) c.3731A>G (p.Asp1244Gly) c.3842A>G (p.Asp1281Gly) c.3806A>G (p.Asp1269Gly) c.3764A>G (p.Asp1255Gly) c.3728A>G (p.Asp1243Gly) | |
19 | g.7119476T>G | CA403669060 | INSR | c.3767A>C (p.Asp1256Ala) c.3731A>C (p.Asp1244Ala) c.3842A>C (p.Asp1281Ala) c.3806A>C (p.Asp1269Ala) c.3764A>C (p.Asp1255Ala) c.3728A>C (p.Asp1243Ala) | |
19 | g.7119477C>A | CA403669061 | INSR | c.3766G>T (p.Asp1256Tyr) c.3730G>T (p.Asp1244Tyr) c.3841G>T (p.Asp1281Tyr) c.3805G>T (p.Asp1269Tyr) c.3763G>T (p.Asp1255Tyr) c.3727G>T (p.Asp1243Tyr) | |
19 | g.7119477C>G | CA403669062 | INSR | c.3766G>C (p.Asp1256His) c.3730G>C (p.Asp1244His) c.3841G>C (p.Asp1281His) c.3805G>C (p.Asp1269His) c.3763G>C (p.Asp1255His) c.3727G>C (p.Asp1243His) | gnomAD v4 |
19 | g.7119477C>T | CA403669063 | INSR | c.3766G>A (p.Asp1256Asn) c.3730G>A (p.Asp1244Asn) c.3841G>A (p.Asp1281Asn) c.3805G>A (p.Asp1269Asn) c.3763G>A (p.Asp1255Asn) c.3727G>A (p.Asp1243Asn) | |
19 | g.7119478C>A | CA505216437 | INSR | c.3765G>T (p.Leu1255=) c.3729G>T (p.Leu1243=) c.3840G>T (p.Leu1280=) c.3804G>T (p.Leu1268=) c.3762G>T (p.Leu1254=) c.3726G>T (p.Leu1242=) | |
19 | g.7119478C= | CA2320764827 | INSR | c.3765G= (p.Leu1255=) c.3729G= (p.Leu1243=) c.3840G= (p.Leu1280=) c.3804G= (p.Leu1268=) c.3762G= (p.Leu1254=) c.3726G= (p.Leu1242=) | |
19 | g.7119478C>G | CA505216436 | INSR | c.3765G>C (p.Leu1255=) c.3729G>C (p.Leu1243=) c.3840G>C (p.Leu1280=) c.3804G>C (p.Leu1268=) c.3762G>C (p.Leu1254=) c.3726G>C (p.Leu1242=) | |
19 | g.7119478C>T | CA9135157 | INSR | c.3765G>A (p.Leu1255=) c.3729G>A (p.Leu1243=) c.3840G>A (p.Leu1280=) c.3804G>A (p.Leu1268=) c.3762G>A (p.Leu1254=) c.3726G>A (p.Leu1242=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7119479A>C | CA403669064 | INSR | c.3764T>G (p.Leu1255Arg) c.3728T>G (p.Leu1243Arg) c.3839T>G (p.Leu1280Arg) c.3803T>G (p.Leu1268Arg) c.3761T>G (p.Leu1254Arg) c.3725T>G (p.Leu1242Arg) | |
19 | g.7119479A>G | CA403669065 | INSR | c.3764T>C (p.Leu1255Pro) c.3728T>C (p.Leu1243Pro) c.3839T>C (p.Leu1280Pro) c.3803T>C (p.Leu1268Pro) c.3761T>C (p.Leu1254Pro) c.3725T>C (p.Leu1242Pro) | |
19 | g.7119479A>T | CA403669066 | INSR | c.3764T>A (p.Leu1255Gln) c.3728T>A (p.Leu1243Gln) c.3839T>A (p.Leu1280Gln) c.3803T>A (p.Leu1268Gln) c.3761T>A (p.Leu1254Gln) c.3725T>A (p.Leu1242Gln) | |
19 | g.7119480G>A | CA505216438 | INSR | c.3763C>T (p.Leu1255=) c.3727C>T (p.Leu1243=) c.3838C>T (p.Leu1280=) c.3802C>T (p.Leu1268=) c.3760C>T (p.Leu1254=) c.3724C>T (p.Leu1242=) | |
19 | g.7119480G>C | CA403669068 | INSR | c.3763C>G (p.Leu1255Val) c.3727C>G (p.Leu1243Val) c.3838C>G (p.Leu1280Val) c.3802C>G (p.Leu1268Val) c.3760C>G (p.Leu1254Val) c.3724C>G (p.Leu1242Val) | |
19 | g.7119480G>T | CA403669067 | INSR | c.3763C>A (p.Leu1255Met) c.3727C>A (p.Leu1243Met) c.3838C>A (p.Leu1280Met) c.3802C>A (p.Leu1268Met) c.3760C>A (p.Leu1254Met) c.3724C>A (p.Leu1242Met) | gnomAD v4 |
19 | g.7119481A>C | CA403669069 | INSR | c.3762T>G (p.Tyr1254Ter) c.3726T>G (p.Tyr1242Ter) c.3837T>G (p.Tyr1279Ter) c.3801T>G (p.Tyr1267Ter) c.3759T>G (p.Tyr1253Ter) c.3723T>G (p.Tyr1241Ter) | |
19 | g.7119481A>G | CA505216439 | INSR | c.3762T>C (p.Tyr1254=) c.3726T>C (p.Tyr1242=) c.3837T>C (p.Tyr1279=) c.3801T>C (p.Tyr1267=) c.3759T>C (p.Tyr1253=) c.3723T>C (p.Tyr1241=) | |
19 | g.7119481A>T | CA403669070 | INSR | c.3762T>A (p.Tyr1254Ter) c.3726T>A (p.Tyr1242Ter) c.3837T>A (p.Tyr1279Ter) c.3801T>A (p.Tyr1267Ter) c.3759T>A (p.Tyr1253Ter) c.3723T>A (p.Tyr1241Ter) | |
19 | g.7119482T>A | CA403669071 | INSR | c.3761A>T (p.Tyr1254Phe) c.3725A>T (p.Tyr1242Phe) c.3836A>T (p.Tyr1279Phe) c.3800A>T (p.Tyr1267Phe) c.3758A>T (p.Tyr1253Phe) c.3722A>T (p.Tyr1241Phe) | |
19 | g.7119482T>C | CA403669072 | INSR | c.3761A>G (p.Tyr1254Cys) c.3725A>G (p.Tyr1242Cys) c.3836A>G (p.Tyr1279Cys) c.3800A>G (p.Tyr1267Cys) c.3758A>G (p.Tyr1253Cys) c.3722A>G (p.Tyr1241Cys) | gnomAD v4 |
19 | g.7119482T>G | CA403669073 | INSR | c.3761A>C (p.Tyr1254Ser) c.3725A>C (p.Tyr1242Ser) c.3836A>C (p.Tyr1279Ser) c.3800A>C (p.Tyr1267Ser) c.3758A>C (p.Tyr1253Ser) c.3722A>C (p.Tyr1241Ser) | |
19 | g.7119483A= | CA2320764828 | INSR | c.3760T= (p.Tyr1254=) c.3724T= (p.Tyr1242=) c.3835T= (p.Tyr1279=) c.3799T= (p.Tyr1267=) c.3757T= (p.Tyr1253=) c.3721T= (p.Tyr1241=) | |
19 | g.7119483A>C | CA403669076 | INSR | c.3760T>G (p.Tyr1254Asp) c.3724T>G (p.Tyr1242Asp) c.3835T>G (p.Tyr1279Asp) c.3799T>G (p.Tyr1267Asp) c.3757T>G (p.Tyr1253Asp) c.3721T>G (p.Tyr1241Asp) | dbSNP gnomAD v4 |
19 | g.7119483A>G | CA403669075 | INSR | c.3760T>C (p.Tyr1254His) c.3724T>C (p.Tyr1242His) c.3835T>C (p.Tyr1279His) c.3799T>C (p.Tyr1267His) c.3757T>C (p.Tyr1253His) c.3721T>C (p.Tyr1241His) | |
19 | g.7119483A>T | CA403669074 | INSR | c.3760T>A (p.Tyr1254Asn) c.3724T>A (p.Tyr1242Asn) c.3835T>A (p.Tyr1279Asn) c.3799T>A (p.Tyr1267Asn) c.3757T>A (p.Tyr1253Asn) c.3721T>A (p.Tyr1241Asn) | |
19 | g.7119484C>A | CA505216443 | INSR | c.3759G>T (p.Gly1253=) c.3723G>T (p.Gly1241=) c.3834G>T (p.Gly1278=) c.3798G>T (p.Gly1266=) c.3756G>T (p.Gly1252=) c.3720G>T (p.Gly1240=) | |
19 | g.7119484C= | CA2320764829 | INSR | c.3759G= (p.Gly1253=) c.3723G= (p.Gly1241=) c.3834G= (p.Gly1278=) c.3798G= (p.Gly1266=) c.3756G= (p.Gly1252=) c.3720G= (p.Gly1240=) | |
19 | g.7119484C>G | CA505216442 | INSR | c.3759G>C (p.Gly1253=) c.3723G>C (p.Gly1241=) c.3834G>C (p.Gly1278=) c.3798G>C (p.Gly1266=) c.3756G>C (p.Gly1252=) c.3720G>C (p.Gly1240=) | |
19 | g.7119484C>T | CA505216441 | INSR | c.3759G>A (p.Gly1253=) c.3723G>A (p.Gly1241=) c.3834G>A (p.Gly1278=) c.3798G>A (p.Gly1266=) c.3756G>A (p.Gly1252=) c.3720G>A (p.Gly1240=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7119485C>A | CA403669077 | INSR | c.3758G>T (p.Gly1253Val) c.3722G>T (p.Gly1241Val) c.3833G>T (p.Gly1278Val) c.3797G>T (p.Gly1266Val) c.3755G>T (p.Gly1252Val) c.3719G>T (p.Gly1240Val) | |
19 | g.7119485C>G | CA403669078 | INSR | c.3758G>C (p.Gly1253Ala) c.3722G>C (p.Gly1241Ala) c.3833G>C (p.Gly1278Ala) c.3797G>C (p.Gly1266Ala) c.3755G>C (p.Gly1252Ala) c.3719G>C (p.Gly1240Ala) | |
19 | g.7119485C>T | CA403669079 | INSR | c.3758G>A (p.Gly1253Glu) c.3722G>A (p.Gly1241Glu) c.3833G>A (p.Gly1278Glu) c.3797G>A (p.Gly1266Glu) c.3755G>A (p.Gly1252Glu) c.3719G>A (p.Gly1240Glu) | |
19 | g.7119486C>A | CA403669080 | INSR | c.3757G>T (p.Gly1253Trp) c.3721G>T (p.Gly1241Trp) c.3832G>T (p.Gly1278Trp) c.3796G>T (p.Gly1266Trp) c.3754G>T (p.Gly1252Trp) c.3718G>T (p.Gly1240Trp) | |
19 | g.7119486C>G | CA403669081 | INSR | c.3757G>C (p.Gly1253Arg) c.3721G>C (p.Gly1241Arg) c.3832G>C (p.Gly1278Arg) c.3796G>C (p.Gly1266Arg) c.3754G>C (p.Gly1252Arg) c.3718G>C (p.Gly1240Arg) | |
19 | g.7119486C>T | CA403669082 | INSR | c.3757G>A (p.Gly1253Arg) c.3721G>A (p.Gly1241Arg) c.3832G>A (p.Gly1278Arg) c.3796G>A (p.Gly1266Arg) c.3754G>A (p.Gly1252Arg) c.3718G>A (p.Gly1240Arg) | |
19 | g.7119487T>A | CA505216447 | INSR | c.3756A>T (p.Gly1252=) c.3720A>T (p.Gly1240=) c.3831A>T (p.Gly1277=) c.3795A>T (p.Gly1265=) c.3753A>T (p.Gly1251=) c.3717A>T (p.Gly1239=) | |
19 | g.7119487T>C | CA505216445 | INSR | c.3756A>G (p.Gly1252=) c.3720A>G (p.Gly1240=) c.3831A>G (p.Gly1277=) c.3795A>G (p.Gly1265=) c.3753A>G (p.Gly1251=) c.3717A>G (p.Gly1239=) | |
19 | g.7119487T>G | CA505216444 | INSR | c.3756A>C (p.Gly1252=) c.3720A>C (p.Gly1240=) c.3831A>C (p.Gly1277=) c.3795A>C (p.Gly1265=) c.3753A>C (p.Gly1251=) c.3717A>C (p.Gly1239=) | |
19 | g.7119488C>A | CA403669083 | INSR | c.3755G>T (p.Gly1252Val) c.3719G>T (p.Gly1240Val) c.3830G>T (p.Gly1277Val) c.3794G>T (p.Gly1265Val) c.3752G>T (p.Gly1251Val) c.3716G>T (p.Gly1239Val) | |
19 | g.7119488C>G | CA403669085 | INSR | c.3755G>C (p.Gly1252Ala) c.3719G>C (p.Gly1240Ala) c.3830G>C (p.Gly1277Ala) c.3794G>C (p.Gly1265Ala) c.3752G>C (p.Gly1251Ala) c.3716G>C (p.Gly1239Ala) | |
19 | g.7119488C>T | CA403669084 | INSR | c.3755G>A (p.Gly1252Glu) c.3719G>A (p.Gly1240Glu) c.3830G>A (p.Gly1277Glu) c.3794G>A (p.Gly1265Glu) c.3752G>A (p.Gly1251Glu) c.3716G>A (p.Gly1239Glu) | |
19 | g.7119489C>A | CA403669086 | INSR | c.3754G>T (p.Gly1252Ter) c.3718G>T (p.Gly1240Ter) c.3829G>T (p.Gly1277Ter) c.3793G>T (p.Gly1265Ter) c.3751G>T (p.Gly1251Ter) c.3715G>T (p.Gly1239Ter) | gnomAD v4 |
19 | g.7119489C>G | CA403669087 | INSR | c.3754G>C (p.Gly1252Arg) c.3718G>C (p.Gly1240Arg) c.3829G>C (p.Gly1277Arg) c.3793G>C (p.Gly1265Arg) c.3751G>C (p.Gly1251Arg) c.3715G>C (p.Gly1239Arg) | |
19 | g.7119489C>T | CA403669088 | INSR | c.3754G>A (p.Gly1252Arg) c.3718G>A (p.Gly1240Arg) c.3829G>A (p.Gly1277Arg) c.3793G>A (p.Gly1265Arg) c.3751G>A (p.Gly1251Arg) c.3715G>A (p.Gly1239Arg) | |
19 | g.7119490A= | CA2320764830 | INSR | c.3753T= (p.Asp1251=) c.3717T= (p.Asp1239=) c.3828T= (p.Asp1276=) c.3792T= (p.Asp1264=) c.3750T= (p.Asp1250=) c.3714T= (p.Asp1238=) | |
19 | g.7119490A>C | CA403669089 | INSR | c.3753T>G (p.Asp1251Glu) c.3717T>G (p.Asp1239Glu) c.3828T>G (p.Asp1276Glu) c.3792T>G (p.Asp1264Glu) c.3750T>G (p.Asp1250Glu) c.3714T>G (p.Asp1238Glu) | |
19 | g.7119490A>G | CA9135158 | INSR | c.3753T>C (p.Asp1251=) c.3717T>C (p.Asp1239=) c.3828T>C (p.Asp1276=) c.3792T>C (p.Asp1264=) c.3750T>C (p.Asp1250=) c.3714T>C (p.Asp1238=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7119490A>T | CA403669090 | INSR | c.3753T>A (p.Asp1251Glu) c.3717T>A (p.Asp1239Glu) c.3828T>A (p.Asp1276Glu) c.3792T>A (p.Asp1264Glu) c.3750T>A (p.Asp1250Glu) c.3714T>A (p.Asp1238Glu) | |
19 | g.7119491T>A | CA403669091 | INSR | c.3752A>T (p.Asp1251Val) c.3716A>T (p.Asp1239Val) c.3827A>T (p.Asp1276Val) c.3791A>T (p.Asp1264Val) c.3749A>T (p.Asp1250Val) c.3713A>T (p.Asp1238Val) | |
19 | g.7119491T>C | CA403669092 | INSR | c.3752A>G (p.Asp1251Gly) c.3716A>G (p.Asp1239Gly) c.3827A>G (p.Asp1276Gly) c.3791A>G (p.Asp1264Gly) c.3749A>G (p.Asp1250Gly) c.3713A>G (p.Asp1238Gly) | |
19 | g.7119491T>G | CA403669093 | INSR | c.3752A>C (p.Asp1251Ala) c.3716A>C (p.Asp1239Ala) c.3827A>C (p.Asp1276Ala) c.3791A>C (p.Asp1264Ala) c.3749A>C (p.Asp1250Ala) c.3713A>C (p.Asp1238Ala) | |
19 | g.7119492C>A | CA403669094 | INSR | c.3751G>T (p.Asp1251Tyr) c.3715G>T (p.Asp1239Tyr) c.3826G>T (p.Asp1276Tyr) c.3790G>T (p.Asp1264Tyr) c.3748G>T (p.Asp1250Tyr) c.3712G>T (p.Asp1238Tyr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7119492C= | CA2320764831 | INSR | c.3751G= (p.Asp1251=) c.3715G= (p.Asp1239=) c.3826G= (p.Asp1276=) c.3790G= (p.Asp1264=) c.3748G= (p.Asp1250=) c.3712G= (p.Asp1238=) | |
19 | g.7119492C>G | CA403669095 | INSR | c.3751G>C (p.Asp1251His) c.3715G>C (p.Asp1239His) c.3826G>C (p.Asp1276His) c.3790G>C (p.Asp1264His) c.3748G>C (p.Asp1250His) c.3712G>C (p.Asp1238His) | |
19 | g.7119492C>T | CA403669096 | INSR | c.3751G>A (p.Asp1251Asn) c.3715G>A (p.Asp1239Asn) c.3826G>A (p.Asp1276Asn) c.3790G>A (p.Asp1264Asn) c.3748G>A (p.Asp1250Asn) c.3712G>A (p.Asp1238Asn) | |
19 | g.7119493C>A | CA403669098 | INSR | c.3750G>T (p.Met1250Ile) c.3714G>T (p.Met1238Ile) c.3825G>T (p.Met1275Ile) c.3789G>T (p.Met1263Ile) c.3747G>T (p.Met1249Ile) c.3711G>T (p.Met1237Ile) | |
19 | g.7119493C>G | CA403669099 | INSR | c.3750G>C (p.Met1250Ile) c.3714G>C (p.Met1238Ile) c.3825G>C (p.Met1275Ile) c.3789G>C (p.Met1263Ile) c.3747G>C (p.Met1249Ile) c.3711G>C (p.Met1237Ile) | |
19 | g.7119493C>T | CA403669097 | INSR | c.3750G>A (p.Met1250Ile) c.3714G>A (p.Met1238Ile) c.3825G>A (p.Met1275Ile) c.3789G>A (p.Met1263Ile) c.3747G>A (p.Met1249Ile) c.3711G>A (p.Met1237Ile) | |
19 | g.7119494A>C | CA403669102 | INSR | c.3749T>G (p.Met1250Arg) c.3713T>G (p.Met1238Arg) c.3824T>G (p.Met1275Arg) c.3788T>G (p.Met1263Arg) c.3746T>G (p.Met1249Arg) c.3710T>G (p.Met1237Arg) | |
19 | g.7119494A>G | CA403669100 | INSR | c.3749T>C (p.Met1250Thr) c.3713T>C (p.Met1238Thr) c.3824T>C (p.Met1275Thr) c.3788T>C (p.Met1263Thr) c.3746T>C (p.Met1249Thr) c.3710T>C (p.Met1237Thr) | |
19 | g.7119494A>T | CA403669101 | INSR | c.3749T>A (p.Met1250Lys) c.3713T>A (p.Met1238Lys) c.3824T>A (p.Met1275Lys) c.3788T>A (p.Met1263Lys) c.3746T>A (p.Met1249Lys) c.3710T>A (p.Met1237Lys) | |
19 | g.7119495T>A | CA403669103 | INSR | c.3748A>T (p.Met1250Leu) c.3712A>T (p.Met1238Leu) c.3823A>T (p.Met1275Leu) c.3787A>T (p.Met1263Leu) c.3745A>T (p.Met1249Leu) c.3709A>T (p.Met1237Leu) | |
19 | g.7119495T>C | CA9135159 | INSR | c.3748A>G (p.Met1250Val) c.3712A>G (p.Met1238Val) c.3823A>G (p.Met1275Val) c.3787A>G (p.Met1263Val) c.3745A>G (p.Met1249Val) c.3709A>G (p.Met1237Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7119495T>G | CA403669104 | INSR | c.3748A>C (p.Met1250Leu) c.3712A>C (p.Met1238Leu) c.3823A>C (p.Met1275Leu) c.3787A>C (p.Met1263Leu) c.3745A>C (p.Met1249Leu) c.3709A>C (p.Met1237Leu) | |
19 | g.7119495T= | CA2320764832 | INSR | c.3748A= (p.Met1250=) c.3712A= (p.Met1238=) c.3823A= (p.Met1275=) c.3787A= (p.Met1263=) c.3745A= (p.Met1249=) c.3709A= (p.Met1237=) | |
19 | g.7119496G>A | CA505216454 | INSR | c.3747C>T (p.Val1249=) c.3711C>T (p.Val1237=) c.3822C>T (p.Val1274=) c.3786C>T (p.Val1262=) c.3744C>T (p.Val1248=) c.3708C>T (p.Val1236=) | |
19 | g.7119496G>C | CA505216453 | INSR | c.3747C>G (p.Val1249=) c.3711C>G (p.Val1237=) c.3822C>G (p.Val1274=) c.3786C>G (p.Val1262=) c.3744C>G (p.Val1248=) c.3708C>G (p.Val1236=) | |
19 | g.7119496G>T | CA505216452 | INSR | c.3747C>A (p.Val1249=) c.3711C>A (p.Val1237=) c.3822C>A (p.Val1274=) c.3786C>A (p.Val1262=) c.3744C>A (p.Val1248=) c.3708C>A (p.Val1236=) | gnomAD v4 |
19 | g.7119497A>C | CA403669105 | INSR | c.3746T>G (p.Val1249Gly) c.3710T>G (p.Val1237Gly) c.3821T>G (p.Val1274Gly) c.3785T>G (p.Val1262Gly) c.3743T>G (p.Val1248Gly) c.3707T>G (p.Val1236Gly) | |
19 | g.7119497A>G | CA403669106 | INSR | c.3746T>C (p.Val1249Ala) c.3710T>C (p.Val1237Ala) c.3821T>C (p.Val1274Ala) c.3785T>C (p.Val1262Ala) c.3743T>C (p.Val1248Ala) c.3707T>C (p.Val1236Ala) | |
19 | g.7119497A>T | CA403669107 | INSR | c.3746T>A (p.Val1249Asp) c.3710T>A (p.Val1237Asp) c.3821T>A (p.Val1274Asp) c.3785T>A (p.Val1262Asp) c.3743T>A (p.Val1248Asp) c.3707T>A (p.Val1236Asp) | |
19 | g.7119498C>A | CA403669108 | INSR | c.3745G>T (p.Val1249Phe) c.3709G>T (p.Val1237Phe) c.3820G>T (p.Val1274Phe) c.3784G>T (p.Val1262Phe) c.3742G>T (p.Val1248Phe) c.3706G>T (p.Val1236Phe) | |
19 | g.7119498C>G | CA403669109 | INSR | c.3745G>C (p.Val1249Leu) c.3709G>C (p.Val1237Leu) c.3820G>C (p.Val1274Leu) c.3784G>C (p.Val1262Leu) c.3742G>C (p.Val1248Leu) c.3706G>C (p.Val1236Leu) | |
19 | g.7119498C>T | CA403669110 | INSR | c.3745G>A (p.Val1249Ile) c.3709G>A (p.Val1237Ile) c.3820G>A (p.Val1274Ile) c.3784G>A (p.Val1262Ile) c.3742G>A (p.Val1248Ile) c.3706G>A (p.Val1236Ile) | gnomAD v4 |
19 | g.7119499A>C | CA403669111 | INSR | c.3744T>G (p.Phe1248Leu) c.3708T>G (p.Phe1236Leu) c.3819T>G (p.Phe1273Leu) c.3783T>G (p.Phe1261Leu) c.3741T>G (p.Phe1247Leu) c.3705T>G (p.Phe1235Leu) | |
19 | g.7119499A>G | CA505216455 | INSR | c.3744T>C (p.Phe1248=) c.3708T>C (p.Phe1236=) c.3819T>C (p.Phe1273=) c.3783T>C (p.Phe1261=) c.3741T>C (p.Phe1247=) c.3705T>C (p.Phe1235=) | |
19 | g.7119499A>T | CA403669112 | INSR | c.3744T>A (p.Phe1248Leu) c.3708T>A (p.Phe1236Leu) c.3819T>A (p.Phe1273Leu) c.3783T>A (p.Phe1261Leu) c.3741T>A (p.Phe1247Leu) c.3705T>A (p.Phe1235Leu) | |
19 | g.7119500A= | CA2320764833 | INSR | c.3743T= (p.Phe1248=) c.3707T= (p.Phe1236=) c.3818T= (p.Phe1273=) c.3782T= (p.Phe1261=) c.3740T= (p.Phe1247=) c.3704T= (p.Phe1235=) | |
19 | g.7119500A>C | CA403669113 | INSR | c.3743T>G (p.Phe1248Cys) c.3707T>G (p.Phe1236Cys) c.3818T>G (p.Phe1273Cys) c.3782T>G (p.Phe1261Cys) c.3740T>G (p.Phe1247Cys) c.3704T>G (p.Phe1235Cys) | |
19 | g.7119500A>G | CA403669115 | INSR | c.3743T>C (p.Phe1248Ser) c.3707T>C (p.Phe1236Ser) c.3818T>C (p.Phe1273Ser) c.3782T>C (p.Phe1261Ser) c.3740T>C (p.Phe1247Ser) c.3704T>C (p.Phe1235Ser) | dbSNP |
19 | g.7119500A>T | CA403669114 | INSR | c.3743T>A (p.Phe1248Tyr) c.3707T>A (p.Phe1236Tyr) c.3818T>A (p.Phe1273Tyr) c.3782T>A (p.Phe1261Tyr) c.3740T>A (p.Phe1247Tyr) c.3704T>A (p.Phe1235Tyr) | |
19 | g.7119501A>C | CA403669116 | INSR | c.3742T>G (p.Phe1248Val) c.3706T>G (p.Phe1236Val) c.3817T>G (p.Phe1273Val) c.3781T>G (p.Phe1261Val) c.3739T>G (p.Phe1247Val) c.3703T>G (p.Phe1235Val) | |
19 | g.7119501A>G | CA403669117 | INSR | c.3742T>C (p.Phe1248Leu) c.3706T>C (p.Phe1236Leu) c.3817T>C (p.Phe1273Leu) c.3781T>C (p.Phe1261Leu) c.3739T>C (p.Phe1247Leu) c.3703T>C (p.Phe1235Leu) | |
19 | g.7119501A>T | CA403669118 | INSR | c.3742T>A (p.Phe1248Ile) c.3706T>A (p.Phe1236Ile) c.3817T>A (p.Phe1273Ile) c.3781T>A (p.Phe1261Ile) c.3739T>A (p.Phe1247Ile) c.3703T>A (p.Phe1235Ile) | |
19 | g.7119502T>A | CA403669119 | INSR | c.3741A>T (p.Lys1247Asn) c.3705A>T (p.Lys1235Asn) c.3816A>T (p.Lys1272Asn) c.3780A>T (p.Lys1260Asn) c.3738A>T (p.Lys1246Asn) c.3702A>T (p.Lys1234Asn) | |
19 | g.7119502T>C | CA505216457 | INSR | c.3741A>G (p.Lys1247=) c.3705A>G (p.Lys1235=) c.3816A>G (p.Lys1272=) c.3780A>G (p.Lys1260=) c.3738A>G (p.Lys1246=) c.3702A>G (p.Lys1234=) | |
19 | g.7119502T>G | CA403669120 | INSR | c.3741A>C (p.Lys1247Asn) c.3705A>C (p.Lys1235Asn) c.3816A>C (p.Lys1272Asn) c.3780A>C (p.Lys1260Asn) c.3738A>C (p.Lys1246Asn) c.3702A>C (p.Lys1234Asn) | |
19 | g.7119503T>A | CA403669121 | INSR | c.3740A>T (p.Lys1247Ile) c.3704A>T (p.Lys1235Ile) c.3815A>T (p.Lys1272Ile) c.3779A>T (p.Lys1260Ile) c.3737A>T (p.Lys1246Ile) c.3701A>T (p.Lys1234Ile) | |
19 | g.7119503T>C | CA403669122 | INSR | c.3740A>G (p.Lys1247Arg) c.3704A>G (p.Lys1235Arg) c.3815A>G (p.Lys1272Arg) c.3779A>G (p.Lys1260Arg) c.3737A>G (p.Lys1246Arg) c.3701A>G (p.Lys1234Arg) | |
19 | g.7119503T>G | CA403669123 | INSR | c.3740A>C (p.Lys1247Thr) c.3704A>C (p.Lys1235Thr) c.3815A>C (p.Lys1272Thr) c.3779A>C (p.Lys1260Thr) c.3737A>C (p.Lys1246Thr) c.3701A>C (p.Lys1234Thr) | |
19 | g.7119504T>A | CA403669124 | INSR | c.3739A>T (p.Lys1247Ter) c.3703A>T (p.Lys1235Ter) c.3814A>T (p.Lys1272Ter) c.3778A>T (p.Lys1260Ter) c.3736A>T (p.Lys1246Ter) c.3700A>T (p.Lys1234Ter) | |
19 | g.7119504T>C | CA403669125 | INSR | c.3739A>G (p.Lys1247Glu) c.3703A>G (p.Lys1235Glu) c.3814A>G (p.Lys1272Glu) c.3778A>G (p.Lys1260Glu) c.3736A>G (p.Lys1246Glu) c.3700A>G (p.Lys1234Glu) | |
19 | g.7119504T>G | CA403669126 | INSR | c.3739A>C (p.Lys1247Gln) c.3703A>C (p.Lys1235Gln) c.3814A>C (p.Lys1272Gln) c.3778A>C (p.Lys1260Gln) c.3736A>C (p.Lys1246Gln) c.3700A>C (p.Lys1234Gln) | |
19 | g.7119505C>A | CA403669127 | INSR | c.3738G>T (p.Leu1246Phe) c.3702G>T (p.Leu1234Phe) c.3813G>T (p.Leu1271Phe) c.3777G>T (p.Leu1259Phe) c.3735G>T (p.Leu1245Phe) c.3699G>T (p.Leu1233Phe) | |
19 | g.7119505C= | CA2320764834 | INSR | c.3738G= (p.Leu1246=) c.3702G= (p.Leu1234=) c.3813G= (p.Leu1271=) c.3777G= (p.Leu1259=) c.3735G= (p.Leu1245=) c.3699G= (p.Leu1233=) | |
19 | g.7119505C>G | CA403669128 | INSR | c.3738G>C (p.Leu1246Phe) c.3702G>C (p.Leu1234Phe) c.3813G>C (p.Leu1271Phe) c.3777G>C (p.Leu1259Phe) c.3735G>C (p.Leu1245Phe) c.3699G>C (p.Leu1233Phe) | |
19 | g.7119505C>T | CA9135160 | INSR | c.3738G>A (p.Leu1246=) c.3702G>A (p.Leu1234=) c.3813G>A (p.Leu1271=) c.3777G>A (p.Leu1259=) c.3735G>A (p.Leu1245=) c.3699G>A (p.Leu1233=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7119506A>C | CA403669129 | INSR | c.3737T>G (p.Leu1246Trp) c.3701T>G (p.Leu1234Trp) c.3812T>G (p.Leu1271Trp) c.3776T>G (p.Leu1259Trp) c.3734T>G (p.Leu1245Trp) c.3698T>G (p.Leu1233Trp) | |
19 | g.7119506A>G | CA403669130 | INSR | c.3737T>C (p.Leu1246Ser) c.3701T>C (p.Leu1234Ser) c.3812T>C (p.Leu1271Ser) c.3776T>C (p.Leu1259Ser) c.3734T>C (p.Leu1245Ser) c.3698T>C (p.Leu1233Ser) | |
19 | g.7119506A>T | CA403669131 | INSR | c.3737T>A (p.Leu1246Ter) c.3701T>A (p.Leu1234Ter) c.3812T>A (p.Leu1271Ter) c.3776T>A (p.Leu1259Ter) c.3734T>A (p.Leu1245Ter) c.3698T>A (p.Leu1233Ter) | |
19 | g.7119507A>C | CA403669132 | INSR | c.3736T>G (p.Leu1246Val) c.3700T>G (p.Leu1234Val) c.3811T>G (p.Leu1271Val) c.3775T>G (p.Leu1259Val) c.3733T>G (p.Leu1245Val) c.3697T>G (p.Leu1233Val) | |
19 | g.7119507A>G | CA505216459 | INSR | c.3736T>C (p.Leu1246=) c.3700T>C (p.Leu1234=) c.3811T>C (p.Leu1271=) c.3775T>C (p.Leu1259=) c.3733T>C (p.Leu1245=) c.3697T>C (p.Leu1233=) | |
19 | g.7119507A>T | CA403669133 | INSR | c.3736T>A (p.Leu1246Met) c.3700T>A (p.Leu1234Met) c.3811T>A (p.Leu1271Met) c.3775T>A (p.Leu1259Met) c.3733T>A (p.Leu1245Met) c.3697T>A (p.Leu1233Met) | |
19 | g.7119508C>A | CA505216462 | INSR | c.3735G>T (p.Val1245=) c.3699G>T (p.Val1233=) c.3810G>T (p.Val1270=) c.3774G>T (p.Val1258=) c.3732G>T (p.Val1244=) c.3696G>T (p.Val1232=) | |
19 | g.7119508C>G | CA505216461 | INSR | c.3735G>C (p.Val1245=) c.3699G>C (p.Val1233=) c.3810G>C (p.Val1270=) c.3774G>C (p.Val1258=) c.3732G>C (p.Val1244=) c.3696G>C (p.Val1232=) | |
19 | g.7119508C>T | CA505216460 | INSR | c.3735G>A (p.Val1245=) c.3699G>A (p.Val1233=) c.3810G>A (p.Val1270=) c.3774G>A (p.Val1258=) c.3732G>A (p.Val1244=) c.3696G>A (p.Val1232=) | |
19 | g.7119509A>C | CA403669134 | INSR | c.3734T>G (p.Val1245Gly) c.3698T>G (p.Val1233Gly) c.3809T>G (p.Val1270Gly) c.3773T>G (p.Val1258Gly) c.3731T>G (p.Val1244Gly) c.3695T>G (p.Val1232Gly) | |
19 | g.7119509A>G | CA403669135 | INSR | c.3734T>C (p.Val1245Ala) c.3698T>C (p.Val1233Ala) c.3809T>C (p.Val1270Ala) c.3773T>C (p.Val1258Ala) c.3731T>C (p.Val1244Ala) c.3695T>C (p.Val1232Ala) | |
19 | g.7119509A>T | CA403669136 | INSR | c.3734T>A (p.Val1245Glu) c.3698T>A (p.Val1233Glu) c.3809T>A (p.Val1270Glu) c.3773T>A (p.Val1258Glu) c.3731T>A (p.Val1244Glu) c.3695T>A (p.Val1232Glu) | |
19 | g.7119510C>A | CA403669137 | INSR | c.3733G>T (p.Val1245Leu) c.3697G>T (p.Val1233Leu) c.3808G>T (p.Val1270Leu) c.3772G>T (p.Val1258Leu) c.3730G>T (p.Val1244Leu) c.3694G>T (p.Val1232Leu) | |
19 | g.7119510C>G | CA403669138 | INSR | c.3733G>C (p.Val1245Leu) c.3697G>C (p.Val1233Leu) c.3808G>C (p.Val1270Leu) c.3772G>C (p.Val1258Leu) c.3730G>C (p.Val1244Leu) c.3694G>C (p.Val1232Leu) | |
19 | g.7119510C>T | CA403669139 | INSR | c.3733G>A (p.Val1245Met) c.3697G>A (p.Val1233Met) c.3808G>A (p.Val1270Met) c.3772G>A (p.Val1258Met) c.3730G>A (p.Val1244Met) c.3694G>A (p.Val1232Met) | gnomAD v4 |
19 | g.7119511C>A | CA403669140 | INSR | c.3732G>T (p.Gln1244His) c.3696G>T (p.Gln1232His) c.3807G>T (p.Gln1269His) c.3771G>T (p.Gln1257His) c.3729G>T (p.Gln1243His) c.3693G>T (p.Gln1231His) | |
19 | g.7119511C>G | CA403669141 | INSR | c.3732G>C (p.Gln1244His) c.3696G>C (p.Gln1232His) c.3807G>C (p.Gln1269His) c.3771G>C (p.Gln1257His) c.3729G>C (p.Gln1243His) c.3693G>C (p.Gln1231His) | gnomAD v4 |
19 | g.7119511C>T | CA505216464 | INSR | c.3732G>A (p.Gln1244=) c.3696G>A (p.Gln1232=) c.3807G>A (p.Gln1269=) c.3771G>A (p.Gln1257=) c.3729G>A (p.Gln1243=) c.3693G>A (p.Gln1231=) | |
19 | g.7119512T>A | CA403669143 | INSR | c.3731A>T (p.Gln1244Leu) c.3695A>T (p.Gln1232Leu) c.3806A>T (p.Gln1269Leu) c.3770A>T (p.Gln1257Leu) c.3728A>T (p.Gln1243Leu) c.3692A>T (p.Gln1231Leu) | |
19 | g.7119512T>C | CA403669144 | INSR | c.3731A>G (p.Gln1244Arg) c.3695A>G (p.Gln1232Arg) c.3806A>G (p.Gln1269Arg) c.3770A>G (p.Gln1257Arg) c.3728A>G (p.Gln1243Arg) c.3692A>G (p.Gln1231Arg) | gnomAD v4 |
19 | g.7119512T>G | CA403669142 | INSR | c.3731A>C (p.Gln1244Pro) c.3695A>C (p.Gln1232Pro) c.3806A>C (p.Gln1269Pro) c.3770A>C (p.Gln1257Pro) c.3728A>C (p.Gln1243Pro) c.3692A>C (p.Gln1231Pro) | |
19 | g.7119513G>A | CA403669145 | INSR | c.3730C>T (p.Gln1244Ter) c.3694C>T (p.Gln1232Ter) c.3805C>T (p.Gln1269Ter) c.3769C>T (p.Gln1257Ter) c.3727C>T (p.Gln1243Ter) c.3691C>T (p.Gln1231Ter) | |
19 | g.7119513G>C | CA403669146 | INSR | c.3730C>G (p.Gln1244Glu) c.3694C>G (p.Gln1232Glu) c.3805C>G (p.Gln1269Glu) c.3769C>G (p.Gln1257Glu) c.3727C>G (p.Gln1243Glu) c.3691C>G (p.Gln1231Glu) | |
19 | g.7119513G>T | CA403669147 | INSR | c.3730C>A (p.Gln1244Lys) c.3694C>A (p.Gln1232Lys) c.3805C>A (p.Gln1269Lys) c.3769C>A (p.Gln1257Lys) c.3727C>A (p.Gln1243Lys) c.3691C>A (p.Gln1231Lys) | |
19 | g.7119514T>A | CA403669148 | INSR | c.3729A>T (p.Glu1243Asp) c.3693A>T (p.Glu1231Asp) c.3804A>T (p.Glu1268Asp) c.3768A>T (p.Glu1256Asp) c.3726A>T (p.Glu1242Asp) c.3690A>T (p.Glu1230Asp) | |
19 | g.7119514T>C | CA9135161 | INSR | c.3729A>G (p.Glu1243=) c.3693A>G (p.Glu1231=) c.3804A>G (p.Glu1268=) c.3768A>G (p.Glu1256=) c.3726A>G (p.Glu1242=) c.3690A>G (p.Glu1230=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7119514T>G | CA403669149 | INSR | c.3729A>C (p.Glu1243Asp) c.3693A>C (p.Glu1231Asp) c.3804A>C (p.Glu1268Asp) c.3768A>C (p.Glu1256Asp) c.3726A>C (p.Glu1242Asp) c.3690A>C (p.Glu1230Asp) | |
19 | g.7119514T= | CA2320764835 | INSR | c.3729A= (p.Glu1243=) c.3693A= (p.Glu1231=) c.3804A= (p.Glu1268=) c.3768A= (p.Glu1256=) c.3726A= (p.Glu1242=) c.3690A= (p.Glu1230=) | |
19 | g.7119515T>A | CA403669152 | INSR | c.3728A>T (p.Glu1243Val) c.3692A>T (p.Glu1231Val) c.3803A>T (p.Glu1268Val) c.3767A>T (p.Glu1256Val) c.3725A>T (p.Glu1242Val) c.3689A>T (p.Glu1230Val) | |
19 | g.7119515T>C | CA403669150 | INSR | c.3728A>G (p.Glu1243Gly) c.3692A>G (p.Glu1231Gly) c.3803A>G (p.Glu1268Gly) c.3767A>G (p.Glu1256Gly) c.3725A>G (p.Glu1242Gly) c.3689A>G (p.Glu1230Gly) | |
19 | g.7119515T>G | CA403669151 | INSR | c.3728A>C (p.Glu1243Ala) c.3692A>C (p.Glu1231Ala) c.3803A>C (p.Glu1268Ala) c.3767A>C (p.Glu1256Ala) c.3725A>C (p.Glu1242Ala) c.3689A>C (p.Glu1230Ala) | |
19 | g.7119516C>A | CA403669153 | INSR | c.3727G>T (p.Glu1243Ter) c.3691G>T (p.Glu1231Ter) c.3802G>T (p.Glu1268Ter) c.3766G>T (p.Glu1256Ter) c.3724G>T (p.Glu1242Ter) c.3688G>T (p.Glu1230Ter) | |
19 | g.7119516C>G | CA403669154 | INSR | c.3727G>C (p.Glu1243Gln) c.3691G>C (p.Glu1231Gln) c.3802G>C (p.Glu1268Gln) c.3766G>C (p.Glu1256Gln) c.3724G>C (p.Glu1242Gln) c.3688G>C (p.Glu1230Gln) | |
19 | g.7119516C>T | CA403669155 | INSR | c.3727G>A (p.Glu1243Lys) c.3691G>A (p.Glu1231Lys) c.3802G>A (p.Glu1268Lys) c.3766G>A (p.Glu1256Lys) c.3724G>A (p.Glu1242Lys) c.3688G>A (p.Glu1230Lys) | |
19 | g.7119517A>C | CA403669156 | INSR | c.3726T>G (p.Asn1242Lys) c.3690T>G (p.Asn1230Lys) c.3801T>G (p.Asn1267Lys) c.3765T>G (p.Asn1255Lys) c.3723T>G (p.Asn1241Lys) c.3687T>G (p.Asn1229Lys) | |
19 | g.7119517A>G | CA505216466 | INSR | c.3726T>C (p.Asn1242=) c.3690T>C (p.Asn1230=) c.3801T>C (p.Asn1267=) c.3765T>C (p.Asn1255=) c.3723T>C (p.Asn1241=) c.3687T>C (p.Asn1229=) | gnomAD v4 |
19 | g.7119517A>T | CA403669157 | INSR | c.3726T>A (p.Asn1242Lys) c.3690T>A (p.Asn1230Lys) c.3801T>A (p.Asn1267Lys) c.3765T>A (p.Asn1255Lys) c.3723T>A (p.Asn1241Lys) c.3687T>A (p.Asn1229Lys) | |
19 | g.7119518T>A | CA403669160 | INSR | c.3725A>T (p.Asn1242Ile) c.3689A>T (p.Asn1230Ile) c.3800A>T (p.Asn1267Ile) c.3764A>T (p.Asn1255Ile) c.3722A>T (p.Asn1241Ile) c.3686A>T (p.Asn1229Ile) | |
19 | g.7119518T>C | CA403669159 | INSR | c.3725A>G (p.Asn1242Ser) c.3689A>G (p.Asn1230Ser) c.3800A>G (p.Asn1267Ser) c.3764A>G (p.Asn1255Ser) c.3722A>G (p.Asn1241Ser) c.3686A>G (p.Asn1229Ser) | |
19 | g.7119518T>G | CA403669158 | INSR | c.3725A>C (p.Asn1242Thr) c.3689A>C (p.Asn1230Thr) c.3800A>C (p.Asn1267Thr) c.3764A>C (p.Asn1255Thr) c.3722A>C (p.Asn1241Thr) c.3686A>C (p.Asn1229Thr) | |
19 | g.7119519T>A | CA403669161 | INSR | c.3724A>T (p.Asn1242Tyr) c.3688A>T (p.Asn1230Tyr) c.3799A>T (p.Asn1267Tyr) c.3763A>T (p.Asn1255Tyr) c.3721A>T (p.Asn1241Tyr) c.3685A>T (p.Asn1229Tyr) | |
19 | g.7119519T>C | CA403669163 | INSR | c.3724A>G (p.Asn1242Asp) c.3688A>G (p.Asn1230Asp) c.3799A>G (p.Asn1267Asp) c.3763A>G (p.Asn1255Asp) c.3721A>G (p.Asn1241Asp) c.3685A>G (p.Asn1229Asp) | |
19 | g.7119519T>G | CA403669162 | INSR | c.3724A>C (p.Asn1242His) c.3688A>C (p.Asn1230His) c.3799A>C (p.Asn1267His) c.3763A>C (p.Asn1255His) c.3721A>C (p.Asn1241His) c.3685A>C (p.Asn1229His) | |
19 | g.7119520A>C | CA505216470 | INSR | c.3723T>G (p.Ser1241=) c.3687T>G (p.Ser1229=) c.3798T>G (p.Ser1266=) c.3762T>G (p.Ser1254=) c.3720T>G (p.Ser1240=) c.3684T>G (p.Ser1228=) | |
19 | g.7119520A>G | CA505216469 | INSR | c.3723T>C (p.Ser1241=) c.3687T>C (p.Ser1229=) c.3798T>C (p.Ser1266=) c.3762T>C (p.Ser1254=) c.3720T>C (p.Ser1240=) c.3684T>C (p.Ser1228=) | gnomAD v4 |
19 | g.7119520A>T | CA505216468 | INSR | c.3723T>A (p.Ser1241=) c.3687T>A (p.Ser1229=) c.3798T>A (p.Ser1266=) c.3762T>A (p.Ser1254=) c.3720T>A (p.Ser1240=) c.3684T>A (p.Ser1228=) | |
19 | g.7119522_7119525del | CA2576594933 | INSR | c.3720_3723del (p.Ser1241MetfsTer5) c.3684_3687del (p.Ser1229MetfsTer5) c.3795_3798del (p.Ser1266MetfsTer5) c.3759_3762del (p.Ser1254MetfsTer5) c.3717_3720del (p.Ser1240MetfsTer5) c.3681_3684del (p.Ser1228MetfsTer5) | |
19 | g.7119521G>A | CA403669164 | INSR | c.3722C>T (p.Ser1241Phe) c.3686C>T (p.Ser1229Phe) c.3797C>T (p.Ser1266Phe) c.3761C>T (p.Ser1254Phe) c.3719C>T (p.Ser1240Phe) c.3683C>T (p.Ser1228Phe) | |
19 | g.7119521G>C | CA403669166 | INSR | c.3722C>G (p.Ser1241Cys) c.3686C>G (p.Ser1229Cys) c.3797C>G (p.Ser1266Cys) c.3761C>G (p.Ser1254Cys) c.3719C>G (p.Ser1240Cys) c.3683C>G (p.Ser1228Cys) | gnomAD v4 COSMIC COSMIC |
19 | g.7119521G>T | CA403669165 | INSR | c.3722C>A (p.Ser1241Tyr) c.3686C>A (p.Ser1229Tyr) c.3797C>A (p.Ser1266Tyr) c.3761C>A (p.Ser1254Tyr) c.3719C>A (p.Ser1240Tyr) c.3683C>A (p.Ser1228Tyr) | |
19 | g.7119522A>C | CA403669167 | INSR | c.3721T>G (p.Ser1241Ala) c.3685T>G (p.Ser1229Ala) c.3796T>G (p.Ser1266Ala) c.3760T>G (p.Ser1254Ala) c.3718T>G (p.Ser1240Ala) c.3682T>G (p.Ser1228Ala) | |
19 | g.7119522A>G | CA403669169 | INSR | c.3721T>C (p.Ser1241Pro) c.3685T>C (p.Ser1229Pro) c.3796T>C (p.Ser1266Pro) c.3760T>C (p.Ser1254Pro) c.3718T>C (p.Ser1240Pro) c.3682T>C (p.Ser1228Pro) | |
19 | g.7119522A>T | CA403669168 | INSR | c.3721T>A (p.Ser1241Thr) c.3685T>A (p.Ser1229Thr) c.3796T>A (p.Ser1266Thr) c.3760T>A (p.Ser1254Thr) c.3718T>A (p.Ser1240Thr) c.3682T>A (p.Ser1228Thr) | |
19 | g.7119523C>A | CA505216477 | INSR | c.3720G>T (p.Leu1240=) c.3684G>T (p.Leu1228=) c.3795G>T (p.Leu1265=) c.3759G>T (p.Leu1253=) c.3717G>T (p.Leu1239=) c.3681G>T (p.Leu1227=) | |
19 | g.7119523C= | CA2320764836 | INSR | c.3720G= (p.Leu1240=) c.3684G= (p.Leu1228=) c.3795G= (p.Leu1265=) c.3759G= (p.Leu1253=) c.3717G= (p.Leu1239=) c.3681G= (p.Leu1227=) | |
19 | g.7119523C>G | CA505216476 | INSR | c.3720G>C (p.Leu1240=) c.3684G>C (p.Leu1228=) c.3795G>C (p.Leu1265=) c.3759G>C (p.Leu1253=) c.3717G>C (p.Leu1239=) c.3681G>C (p.Leu1227=) | |
19 | g.7119523C>T | CA304868129 | INSR | c.3720G>A (p.Leu1240=) c.3684G>A (p.Leu1228=) c.3795G>A (p.Leu1265=) c.3759G>A (p.Leu1253=) c.3717G>A (p.Leu1239=) c.3681G>A (p.Leu1227=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7119524A>C | CA403669170 | INSR | c.3719T>G (p.Leu1240Arg) c.3683T>G (p.Leu1228Arg) c.3794T>G (p.Leu1265Arg) c.3758T>G (p.Leu1253Arg) c.3716T>G (p.Leu1239Arg) c.3680T>G (p.Leu1227Arg) | |
19 | g.7119524A>G | CA403669171 | INSR | c.3719T>C (p.Leu1240Pro) c.3683T>C (p.Leu1228Pro) c.3794T>C (p.Leu1265Pro) c.3758T>C (p.Leu1253Pro) c.3716T>C (p.Leu1239Pro) c.3680T>C (p.Leu1227Pro) | |
19 | g.7119524A>T | CA403669172 | INSR | c.3719T>A (p.Leu1240Gln) c.3683T>A (p.Leu1228Gln) c.3794T>A (p.Leu1265Gln) c.3758T>A (p.Leu1253Gln) c.3716T>A (p.Leu1239Gln) c.3680T>A (p.Leu1227Gln) | |
19 | g.7119525G>A | CA505216478 | INSR | c.3718C>T (p.Leu1240=) c.3682C>T (p.Leu1228=) c.3793C>T (p.Leu1265=) c.3757C>T (p.Leu1253=) c.3715C>T (p.Leu1239=) c.3679C>T (p.Leu1227=) | |
19 | g.7119525G>C | CA403669173 | INSR | c.3718C>G (p.Leu1240Val) c.3682C>G (p.Leu1228Val) c.3793C>G (p.Leu1265Val) c.3757C>G (p.Leu1253Val) c.3715C>G (p.Leu1239Val) c.3679C>G (p.Leu1227Val) | |
19 | g.7119525G>T | CA403669174 | INSR | c.3718C>A (p.Leu1240Met) c.3682C>A (p.Leu1228Met) c.3793C>A (p.Leu1265Met) c.3757C>A (p.Leu1253Met) c.3715C>A (p.Leu1239Met) c.3679C>A (p.Leu1227Met) | |
19 | g.7119526G>A | CA505216481 | INSR | c.3717C>T (p.Gly1239=) c.3681C>T (p.Gly1227=) c.3792C>T (p.Gly1264=) c.3756C>T (p.Gly1252=) c.3714C>T (p.Gly1238=) c.3678C>T (p.Gly1226=) | |
19 | g.7119526G>C | CA505216480 | INSR | c.3717C>G (p.Gly1239=) c.3681C>G (p.Gly1227=) c.3792C>G (p.Gly1264=) c.3756C>G (p.Gly1252=) c.3714C>G (p.Gly1238=) c.3678C>G (p.Gly1226=) | gnomAD v4 |
19 | g.7119526G>T | CA505216479 | INSR | c.3717C>A (p.Gly1239=) c.3681C>A (p.Gly1227=) c.3792C>A (p.Gly1264=) c.3756C>A (p.Gly1252=) c.3714C>A (p.Gly1238=) c.3678C>A (p.Gly1226=) | |
19 | g.7119527C>A | CA403669175 | INSR | c.3716G>T (p.Gly1239Val) c.3680G>T (p.Gly1227Val) c.3791G>T (p.Gly1264Val) c.3755G>T (p.Gly1252Val) c.3713G>T (p.Gly1238Val) c.3677G>T (p.Gly1226Val) | gnomAD v4 |
19 | g.7119527C= | CA2320764837 | INSR | c.3716G= (p.Gly1239=) c.3680G= (p.Gly1227=) c.3791G= (p.Gly1264=) c.3755G= (p.Gly1252=) c.3713G= (p.Gly1238=) c.3677G= (p.Gly1226=) | |
19 | g.7119527C>G | CA9135162 | INSR | c.3716G>C (p.Gly1239Ala) c.3680G>C (p.Gly1227Ala) c.3791G>C (p.Gly1264Ala) c.3755G>C (p.Gly1252Ala) c.3713G>C (p.Gly1238Ala) c.3677G>C (p.Gly1226Ala) | dbSNP ExAC gnomAD v2 |
19 | g.7119527C>T | CA403669176 | INSR | c.3716G>A (p.Gly1239Asp) c.3680G>A (p.Gly1227Asp) c.3791G>A (p.Gly1264Asp) c.3755G>A (p.Gly1252Asp) c.3713G>A (p.Gly1238Asp) c.3677G>A (p.Gly1226Asp) | dbSNP gnomAD v4 |
19 | g.7119528C>A | CA403669177 | INSR | c.3715G>T (p.Gly1239Cys) c.3679G>T (p.Gly1227Cys) c.3790G>T (p.Gly1264Cys) c.3754G>T (p.Gly1252Cys) c.3712G>T (p.Gly1238Cys) c.3676G>T (p.Gly1226Cys) | |
19 | g.7119528C>G | CA403669178 | INSR | c.3715G>C (p.Gly1239Arg) c.3679G>C (p.Gly1227Arg) c.3790G>C (p.Gly1264Arg) c.3754G>C (p.Gly1252Arg) c.3712G>C (p.Gly1238Arg) c.3676G>C (p.Gly1226Arg) | |
19 | g.7119528C>T | CA403669179 | INSR | c.3715G>A (p.Gly1239Ser) c.3679G>A (p.Gly1227Ser) c.3790G>A (p.Gly1264Ser) c.3754G>A (p.Gly1252Ser) c.3712G>A (p.Gly1238Ser) c.3676G>A (p.Gly1226Ser) | gnomAD v4 |
19 | g.7119529T>A | CA403669181 | INSR | c.3714A>T (p.Gln1238His) c.3678A>T (p.Gln1226His) c.3789A>T (p.Gln1263His) c.3753A>T (p.Gln1251His) c.3711A>T (p.Gln1237His) c.3675A>T (p.Gln1225His) | |
19 | g.7119529T>C | CA505216486 | INSR | c.3714A>G (p.Gln1238=) c.3678A>G (p.Gln1226=) c.3789A>G (p.Gln1263=) c.3753A>G (p.Gln1251=) c.3711A>G (p.Gln1237=) c.3675A>G (p.Gln1225=) | |
19 | g.7119529T>G | CA403669180 | INSR | c.3714A>C (p.Gln1238His) c.3678A>C (p.Gln1226His) c.3789A>C (p.Gln1263His) c.3753A>C (p.Gln1251His) c.3711A>C (p.Gln1237His) c.3675A>C (p.Gln1225His) | |
19 | g.7119530T>A | CA403669182 | INSR | c.3713A>T (p.Gln1238Leu) c.3677A>T (p.Gln1226Leu) c.3788A>T (p.Gln1263Leu) c.3752A>T (p.Gln1251Leu) c.3710A>T (p.Gln1237Leu) c.3674A>T (p.Gln1225Leu) | |
19 | g.7119530T>C | CA403669183 | INSR | c.3713A>G (p.Gln1238Arg) c.3677A>G (p.Gln1226Arg) c.3788A>G (p.Gln1263Arg) c.3752A>G (p.Gln1251Arg) c.3710A>G (p.Gln1237Arg) c.3674A>G (p.Gln1225Arg) | |
19 | g.7119530T>G | CA403669184 | INSR | c.3713A>C (p.Gln1238Pro) c.3677A>C (p.Gln1226Pro) c.3788A>C (p.Gln1263Pro) c.3752A>C (p.Gln1251Pro) c.3710A>C (p.Gln1237Pro) c.3674A>C (p.Gln1225Pro) | |
19 | g.7119531G>A | CA403669185 | INSR | c.3712C>T (p.Gln1238Ter) c.3676C>T (p.Gln1226Ter) c.3787C>T (p.Gln1263Ter) c.3751C>T (p.Gln1251Ter) c.3709C>T (p.Gln1237Ter) c.3673C>T (p.Gln1225Ter) | |
19 | g.7119531G>C | CA403669186 | INSR | c.3712C>G (p.Gln1238Glu) c.3676C>G (p.Gln1226Glu) c.3787C>G (p.Gln1263Glu) c.3751C>G (p.Gln1251Glu) c.3709C>G (p.Gln1237Glu) c.3673C>G (p.Gln1225Glu) | COSMIC COSMIC |
19 | g.7119531G>T | CA403669187 | INSR | c.3712C>A (p.Gln1238Lys) c.3676C>A (p.Gln1226Lys) c.3787C>A (p.Gln1263Lys) c.3751C>A (p.Gln1251Lys) c.3709C>A (p.Gln1237Lys) c.3673C>A (p.Gln1225Lys) | |
19 | g.7119532G>A | CA505216490 | INSR | c.3711C>T (p.Tyr1237=) c.3675C>T (p.Tyr1225=) c.3786C>T (p.Tyr1262=) c.3750C>T (p.Tyr1250=) c.3708C>T (p.Tyr1236=) c.3672C>T (p.Tyr1224=) | COSMIC COSMIC |
19 | g.7119532G>C | CA403669188 | INSR | c.3711C>G (p.Tyr1237Ter) c.3675C>G (p.Tyr1225Ter) c.3786C>G (p.Tyr1262Ter) c.3750C>G (p.Tyr1250Ter) c.3708C>G (p.Tyr1236Ter) c.3672C>G (p.Tyr1224Ter) | |
19 | g.7119532G>T | CA403669189 | INSR | c.3711C>A (p.Tyr1237Ter) c.3675C>A (p.Tyr1225Ter) c.3786C>A (p.Tyr1262Ter) c.3750C>A (p.Tyr1250Ter) c.3708C>A (p.Tyr1236Ter) c.3672C>A (p.Tyr1224Ter) | |
19 | g.7119533T>A | CA403669190 | INSR | c.3710A>T (p.Tyr1237Phe) c.3674A>T (p.Tyr1225Phe) c.3785A>T (p.Tyr1262Phe) c.3749A>T (p.Tyr1250Phe) c.3707A>T (p.Tyr1236Phe) c.3671A>T (p.Tyr1224Phe) | |
19 | g.7119533T>C | CA403669191 | INSR | c.3710A>G (p.Tyr1237Cys) c.3674A>G (p.Tyr1225Cys) c.3785A>G (p.Tyr1262Cys) c.3749A>G (p.Tyr1250Cys) c.3707A>G (p.Tyr1236Cys) c.3671A>G (p.Tyr1224Cys) | |
19 | g.7119533T>G | CA403669192 | INSR | c.3710A>C (p.Tyr1237Ser) c.3674A>C (p.Tyr1225Ser) c.3785A>C (p.Tyr1262Ser) c.3749A>C (p.Tyr1250Ser) c.3707A>C (p.Tyr1236Ser) c.3671A>C (p.Tyr1224Ser) | |
19 | g.7119534A= | CA2320764838 | INSR | c.3709T= (p.Tyr1237=) c.3673T= (p.Tyr1225=) c.3784T= (p.Tyr1262=) c.3748T= (p.Tyr1250=) c.3706T= (p.Tyr1236=) c.3670T= (p.Tyr1224=) | |
19 | g.7119534A>C | CA403669195 | INSR | c.3709T>G (p.Tyr1237Asp) c.3673T>G (p.Tyr1225Asp) c.3784T>G (p.Tyr1262Asp) c.3748T>G (p.Tyr1250Asp) c.3706T>G (p.Tyr1236Asp) c.3670T>G (p.Tyr1224Asp) | |
19 | g.7119534A>G | CA403669194 | INSR | c.3709T>C (p.Tyr1237His) c.3673T>C (p.Tyr1225His) c.3784T>C (p.Tyr1262His) c.3748T>C (p.Tyr1250His) c.3706T>C (p.Tyr1236His) c.3670T>C (p.Tyr1224His) | dbSNP |
19 | g.7119534A>T | CA403669193 | INSR | c.3709T>A (p.Tyr1237Asn) c.3673T>A (p.Tyr1225Asn) c.3784T>A (p.Tyr1262Asn) c.3748T>A (p.Tyr1250Asn) c.3706T>A (p.Tyr1236Asn) c.3670T>A (p.Tyr1224Asn) | |
19 | g.7119535A>C | CA505216494 | INSR | c.3708T>G (p.Pro1236=) c.3672T>G (p.Pro1224=) c.3783T>G (p.Pro1261=) c.3747T>G (p.Pro1249=) c.3705T>G (p.Pro1235=) c.3669T>G (p.Pro1223=) | |
19 | g.7119535A>G | CA505216493 | INSR | c.3708T>C (p.Pro1236=) c.3672T>C (p.Pro1224=) c.3783T>C (p.Pro1261=) c.3747T>C (p.Pro1249=) c.3705T>C (p.Pro1235=) c.3669T>C (p.Pro1223=) | |
19 | g.7119535A>T | CA505216492 | INSR | c.3708T>A (p.Pro1236=) c.3672T>A (p.Pro1224=) c.3783T>A (p.Pro1261=) c.3747T>A (p.Pro1249=) c.3705T>A (p.Pro1235=) c.3669T>A (p.Pro1223=) | |
19 | g.7119536G>A | CA403669196 | INSR | c.3707C>T (p.Pro1236Leu) c.3671C>T (p.Pro1224Leu) c.3782C>T (p.Pro1261Leu) c.3746C>T (p.Pro1249Leu) c.3704C>T (p.Pro1235Leu) c.3668C>T (p.Pro1223Leu) | |
19 | g.7119536G>C | CA403669197 | INSR | c.3707C>G (p.Pro1236Arg) c.3671C>G (p.Pro1224Arg) c.3782C>G (p.Pro1261Arg) c.3746C>G (p.Pro1249Arg) c.3704C>G (p.Pro1235Arg) c.3668C>G (p.Pro1223Arg) | |
19 | g.7119536G>T | CA403669198 | INSR | c.3707C>A (p.Pro1236His) c.3671C>A (p.Pro1224His) c.3782C>A (p.Pro1261His) c.3746C>A (p.Pro1249His) c.3704C>A (p.Pro1235His) c.3668C>A (p.Pro1223His) | |
19 | g.7119537G>A | CA403669199 | INSR | c.3706C>T (p.Pro1236Ser) c.3670C>T (p.Pro1224Ser) c.3781C>T (p.Pro1261Ser) c.3745C>T (p.Pro1249Ser) c.3703C>T (p.Pro1235Ser) c.3667C>T (p.Pro1223Ser) | |
19 | g.7119537G>C | CA403669200 | INSR | c.3706C>G (p.Pro1236Ala) c.3670C>G (p.Pro1224Ala) c.3781C>G (p.Pro1261Ala) c.3745C>G (p.Pro1249Ala) c.3703C>G (p.Pro1235Ala) c.3667C>G (p.Pro1223Ala) | |
19 | g.7119537G>T | CA403669201 | INSR | c.3706C>A (p.Pro1236Thr) c.3670C>A (p.Pro1224Thr) c.3781C>A (p.Pro1261Thr) c.3745C>A (p.Pro1249Thr) c.3703C>A (p.Pro1235Thr) c.3667C>A (p.Pro1223Thr) | |
19 | g.7119538C>A | CA403669202 | INSR | c.3705G>T (p.Gln1235His) c.3669G>T (p.Gln1223His) c.3780G>T (p.Gln1260His) c.3744G>T (p.Gln1248His) c.3702G>T (p.Gln1234His) c.3666G>T (p.Gln1222His) | |
19 | g.7119538C>G | CA403669203 | INSR | c.3705G>C (p.Gln1235His) c.3669G>C (p.Gln1223His) c.3780G>C (p.Gln1260His) c.3744G>C (p.Gln1248His) c.3702G>C (p.Gln1234His) c.3666G>C (p.Gln1222His) | |
19 | g.7119538C>T | CA505216497 | INSR | c.3705G>A (p.Gln1235=) c.3669G>A (p.Gln1223=) c.3780G>A (p.Gln1260=) c.3744G>A (p.Gln1248=) c.3702G>A (p.Gln1234=) c.3666G>A (p.Gln1222=) | |
19 | g.7119539T>A | CA403669204 | INSR | c.3704A>T (p.Gln1235Leu) c.3668A>T (p.Gln1223Leu) c.3779A>T (p.Gln1260Leu) c.3743A>T (p.Gln1248Leu) c.3701A>T (p.Gln1234Leu) c.3665A>T (p.Gln1222Leu) | |
19 | g.7119539T>C | CA403669205 | INSR | c.3704A>G (p.Gln1235Arg) c.3668A>G (p.Gln1223Arg) c.3779A>G (p.Gln1260Arg) c.3743A>G (p.Gln1248Arg) c.3701A>G (p.Gln1234Arg) c.3665A>G (p.Gln1222Arg) | |
19 | g.7119539T>G | CA403669206 | INSR | c.3704A>C (p.Gln1235Pro) c.3668A>C (p.Gln1223Pro) c.3779A>C (p.Gln1260Pro) c.3743A>C (p.Gln1248Pro) c.3701A>C (p.Gln1234Pro) c.3665A>C (p.Gln1222Pro) | |
19 | g.7119540G>A | CA403669209 | INSR | c.3703C>T (p.Gln1235Ter) c.3667C>T (p.Gln1223Ter) c.3778C>T (p.Gln1260Ter) c.3742C>T (p.Gln1248Ter) c.3700C>T (p.Gln1234Ter) c.3664C>T (p.Gln1222Ter) | |
19 | g.7119540G>C | CA403669208 | INSR | c.3703C>G (p.Gln1235Glu) c.3667C>G (p.Gln1223Glu) c.3778C>G (p.Gln1260Glu) c.3742C>G (p.Gln1248Glu) c.3700C>G (p.Gln1234Glu) c.3664C>G (p.Gln1222Glu) | |
19 | g.7119540G>T | CA403669207 | INSR | c.3703C>A (p.Gln1235Lys) c.3667C>A (p.Gln1223Lys) c.3778C>A (p.Gln1260Lys) c.3742C>A (p.Gln1248Lys) c.3700C>A (p.Gln1234Lys) c.3664C>A (p.Gln1222Lys) | |
19 | g.7119541T>A | CA403669210 | INSR | c.3702A>T (p.Glu1234Asp) c.3666A>T (p.Glu1222Asp) c.3777A>T (p.Glu1259Asp) c.3741A>T (p.Glu1247Asp) c.3699A>T (p.Glu1233Asp) c.3663A>T (p.Glu1221Asp) | |
19 | g.7119541T>C | CA505216499 | INSR | c.3702A>G (p.Glu1234=) c.3666A>G (p.Glu1222=) c.3777A>G (p.Glu1259=) c.3741A>G (p.Glu1247=) c.3699A>G (p.Glu1233=) c.3663A>G (p.Glu1221=) | |
19 | g.7119541T>G | CA403669211 | INSR | c.3702A>C (p.Glu1234Asp) c.3666A>C (p.Glu1222Asp) c.3777A>C (p.Glu1259Asp) c.3741A>C (p.Glu1247Asp) c.3699A>C (p.Glu1233Asp) c.3663A>C (p.Glu1221Asp) | |
19 | g.7119542T>A | CA403669212 | INSR | c.3701A>T (p.Glu1234Val) c.3665A>T (p.Glu1222Val) c.3776A>T (p.Glu1259Val) c.3740A>T (p.Glu1247Val) c.3698A>T (p.Glu1233Val) c.3662A>T (p.Glu1221Val) | |
19 | g.7119542T>C | CA403669213 | INSR | c.3701A>G (p.Glu1234Gly) c.3665A>G (p.Glu1222Gly) c.3776A>G (p.Glu1259Gly) c.3740A>G (p.Glu1247Gly) c.3698A>G (p.Glu1233Gly) c.3662A>G (p.Glu1221Gly) | |
19 | g.7119542T>G | CA403669214 | INSR | c.3701A>C (p.Glu1234Ala) c.3665A>C (p.Glu1222Ala) c.3776A>C (p.Glu1259Ala) c.3740A>C (p.Glu1247Ala) c.3698A>C (p.Glu1233Ala) c.3662A>C (p.Glu1221Ala) | |
19 | g.7119543C>A | CA403669215 | INSR | c.3700G>T (p.Glu1234Ter) c.3664G>T (p.Glu1222Ter) c.3775G>T (p.Glu1259Ter) c.3739G>T (p.Glu1247Ter) c.3697G>T (p.Glu1233Ter) c.3661G>T (p.Glu1221Ter) | |
19 | g.7119543C>G | CA403669216 | INSR | c.3700G>C (p.Glu1234Gln) c.3664G>C (p.Glu1222Gln) c.3775G>C (p.Glu1259Gln) c.3739G>C (p.Glu1247Gln) c.3697G>C (p.Glu1233Gln) c.3661G>C (p.Glu1221Gln) | |
19 | g.7119543C>T | CA403669217 | INSR | c.3700G>A (p.Glu1234Lys) c.3664G>A (p.Glu1222Lys) c.3775G>A (p.Glu1259Lys) c.3739G>A (p.Glu1247Lys) c.3697G>A (p.Glu1233Lys) c.3661G>A (p.Glu1221Lys) | |
19 | g.7119544T>A | CA505216504 | INSR | c.3699A>T (p.Ala1233=) c.3663A>T (p.Ala1221=) c.3774A>T (p.Ala1258=) c.3738A>T (p.Ala1246=) c.3696A>T (p.Ala1232=) c.3660A>T (p.Ala1220=) | |
19 | g.7119544T>C | CA505216503 | INSR | c.3699A>G (p.Ala1233=) c.3663A>G (p.Ala1221=) c.3774A>G (p.Ala1258=) c.3738A>G (p.Ala1246=) c.3696A>G (p.Ala1232=) c.3660A>G (p.Ala1220=) | |
19 | g.7119544T>G | CA9135163 | INSR | c.3699A>C (p.Ala1233=) c.3663A>C (p.Ala1221=) c.3774A>C (p.Ala1258=) c.3738A>C (p.Ala1246=) c.3696A>C (p.Ala1232=) c.3660A>C (p.Ala1220=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7119544T= | CA2320764839 | INSR | c.3699A= (p.Ala1233=) c.3663A= (p.Ala1221=) c.3774A= (p.Ala1258=) c.3738A= (p.Ala1246=) c.3696A= (p.Ala1232=) c.3660A= (p.Ala1220=) | |
19 | g.7119545G>A | CA403669218 | INSR | c.3698C>T (p.Ala1233Val) c.3662C>T (p.Ala1221Val) c.3773C>T (p.Ala1258Val) c.3737C>T (p.Ala1246Val) c.3695C>T (p.Ala1232Val) c.3659C>T (p.Ala1220Val) | |
19 | g.7119545G>C | CA403669219 | INSR | c.3698C>G (p.Ala1233Gly) c.3662C>G (p.Ala1221Gly) c.3773C>G (p.Ala1258Gly) c.3737C>G (p.Ala1246Gly) c.3695C>G (p.Ala1232Gly) c.3659C>G (p.Ala1220Gly) | |
19 | g.7119545G>T | CA403669220 | INSR | c.3698C>A (p.Ala1233Glu) c.3662C>A (p.Ala1221Glu) c.3773C>A (p.Ala1258Glu) c.3737C>A (p.Ala1246Glu) c.3695C>A (p.Ala1232Glu) c.3659C>A (p.Ala1220Glu) | |
19 | g.7119546C>A | CA403669223 | INSR | c.3697G>T (p.Ala1233Ser) c.3661G>T (p.Ala1221Ser) c.3772G>T (p.Ala1258Ser) c.3736G>T (p.Ala1246Ser) c.3694G>T (p.Ala1232Ser) c.3658G>T (p.Ala1220Ser) | |
19 | g.7119546C>G | CA403669222 | INSR | c.3697G>C (p.Ala1233Pro) c.3661G>C (p.Ala1221Pro) c.3772G>C (p.Ala1258Pro) c.3736G>C (p.Ala1246Pro) c.3694G>C (p.Ala1232Pro) c.3658G>C (p.Ala1220Pro) | |
19 | g.7119546C>T | CA403669221 | INSR | c.3697G>A (p.Ala1233Thr) c.3661G>A (p.Ala1221Thr) c.3772G>A (p.Ala1258Thr) c.3736G>A (p.Ala1246Thr) c.3694G>A (p.Ala1232Thr) c.3658G>A (p.Ala1220Thr) | |
19 | g.7119547C>A | CA403669224 | INSR | c.3696G>T (p.Leu1232Phe) c.3660G>T (p.Leu1220Phe) c.3771G>T (p.Leu1257Phe) c.3735G>T (p.Leu1245Phe) c.3693G>T (p.Leu1231Phe) c.3657G>T (p.Leu1219Phe) | |
19 | g.7119547C>G | CA403669225 | INSR | c.3696G>C (p.Leu1232Phe) c.3660G>C (p.Leu1220Phe) c.3771G>C (p.Leu1257Phe) c.3735G>C (p.Leu1245Phe) c.3693G>C (p.Leu1231Phe) c.3657G>C (p.Leu1219Phe) | |
19 | g.7119547C>T | CA505216508 | INSR | c.3696G>A (p.Leu1232=) c.3660G>A (p.Leu1220=) c.3771G>A (p.Leu1257=) c.3735G>A (p.Leu1245=) c.3693G>A (p.Leu1231=) c.3657G>A (p.Leu1219=) | |
19 | g.7119548A>C | CA403669226 | INSR | c.3695T>G (p.Leu1232Trp) c.3659T>G (p.Leu1220Trp) c.3770T>G (p.Leu1257Trp) c.3734T>G (p.Leu1245Trp) c.3692T>G (p.Leu1231Trp) c.3656T>G (p.Leu1219Trp) | |
19 | g.7119548A>G | CA403669227 | INSR | c.3695T>C (p.Leu1232Ser) c.3659T>C (p.Leu1220Ser) c.3770T>C (p.Leu1257Ser) c.3734T>C (p.Leu1245Ser) c.3692T>C (p.Leu1231Ser) c.3656T>C (p.Leu1219Ser) | |
19 | g.7119548A>T | CA403669228 | INSR | c.3695T>A (p.Leu1232Ter) c.3659T>A (p.Leu1220Ter) c.3770T>A (p.Leu1257Ter) c.3734T>A (p.Leu1245Ter) c.3692T>A (p.Leu1231Ter) c.3656T>A (p.Leu1219Ter) | |
19 | g.7119549A= | CA2320764840 | INSR | c.3694T= (p.Leu1232=) c.3658T= (p.Leu1220=) c.3769T= (p.Leu1257=) c.3733T= (p.Leu1245=) c.3691T= (p.Leu1231=) c.3655T= (p.Leu1219=) | |
19 | g.7119549A>C | CA403669229 | INSR | c.3694T>G (p.Leu1232Val) c.3658T>G (p.Leu1220Val) c.3769T>G (p.Leu1257Val) c.3733T>G (p.Leu1245Val) c.3691T>G (p.Leu1231Val) c.3655T>G (p.Leu1219Val) | |
19 | g.7119549A>G | CA505216509 | INSR | c.3694T>C (p.Leu1232=) c.3658T>C (p.Leu1220=) c.3769T>C (p.Leu1257=) c.3733T>C (p.Leu1245=) c.3691T>C (p.Leu1231=) c.3655T>C (p.Leu1219=) | ClinVar dbSNP gnomAD v4 |
19 | g.7119549A>T | CA403669230 | INSR | c.3694T>A (p.Leu1232Met) c.3658T>A (p.Leu1220Met) c.3769T>A (p.Leu1257Met) c.3733T>A (p.Leu1245Met) c.3691T>A (p.Leu1231Met) c.3655T>A (p.Leu1219Met) | |
19 | g.7119550G>A | CA505216510 | INSR | c.3693C>T (p.Ser1231=) c.3657C>T (p.Ser1219=) c.3768C>T (p.Ser1256=) c.3732C>T (p.Ser1244=) c.3690C>T (p.Ser1230=) c.3654C>T (p.Ser1218=) | gnomAD v4 |
19 | g.7119550G>C | CA403669231 | INSR | c.3693C>G (p.Ser1231Arg) c.3657C>G (p.Ser1219Arg) c.3768C>G (p.Ser1256Arg) c.3732C>G (p.Ser1244Arg) c.3690C>G (p.Ser1230Arg) c.3654C>G (p.Ser1218Arg) | |
19 | g.7119550G>T | CA403669232 | INSR | c.3693C>A (p.Ser1231Arg) c.3657C>A (p.Ser1219Arg) c.3768C>A (p.Ser1256Arg) c.3732C>A (p.Ser1244Arg) c.3690C>A (p.Ser1230Arg) c.3654C>A (p.Ser1218Arg) | |
19 | g.7119551C>A | CA403669233 | INSR | c.3692G>T (p.Ser1231Ile) c.3656G>T (p.Ser1219Ile) c.3767G>T (p.Ser1256Ile) c.3731G>T (p.Ser1244Ile) c.3689G>T (p.Ser1230Ile) c.3653G>T (p.Ser1218Ile) | |
19 | g.7119551C= | CA2320764841 | INSR | c.3692G= (p.Ser1231=) c.3656G= (p.Ser1219=) c.3767G= (p.Ser1256=) c.3731G= (p.Ser1244=) c.3689G= (p.Ser1230=) c.3653G= (p.Ser1218=) | |
19 | g.7119551C>G | CA403669234 | INSR | c.3692G>C (p.Ser1231Thr) c.3656G>C (p.Ser1219Thr) c.3767G>C (p.Ser1256Thr) c.3731G>C (p.Ser1244Thr) c.3689G>C (p.Ser1230Thr) c.3653G>C (p.Ser1218Thr) | |
19 | g.7119551C>T | CA403669235 | INSR | c.3692G>A (p.Ser1231Asn) c.3656G>A (p.Ser1219Asn) c.3767G>A (p.Ser1256Asn) c.3731G>A (p.Ser1244Asn) c.3689G>A (p.Ser1230Asn) c.3653G>A (p.Ser1218Asn) | dbSNP |
19 | g.7119552T>A | CA403669236 | INSR | c.3691A>T (p.Ser1231Cys) c.3655A>T (p.Ser1219Cys) c.3766A>T (p.Ser1256Cys) c.3730A>T (p.Ser1244Cys) c.3688A>T (p.Ser1230Cys) c.3652A>T (p.Ser1218Cys) | |
19 | g.7119552T>C | CA403669237 | INSR | c.3691A>G (p.Ser1231Gly) c.3655A>G (p.Ser1219Gly) c.3766A>G (p.Ser1256Gly) c.3730A>G (p.Ser1244Gly) c.3688A>G (p.Ser1230Gly) c.3652A>G (p.Ser1218Gly) | |
19 | g.7119552T>G | CA403669238 | INSR | c.3691A>C (p.Ser1231Arg) c.3655A>C (p.Ser1219Arg) c.3766A>C (p.Ser1256Arg) c.3730A>C (p.Ser1244Arg) c.3688A>C (p.Ser1230Arg) c.3652A>C (p.Ser1218Arg) | |
19 | g.7119553G>A | CA505216514 | INSR | c.3690C>T (p.Thr1230=) c.3654C>T (p.Thr1218=) c.3765C>T (p.Thr1255=) c.3729C>T (p.Thr1243=) c.3687C>T (p.Thr1229=) c.3651C>T (p.Thr1217=) | |
19 | g.7119553G>C | CA505216513 | INSR | c.3690C>G (p.Thr1230=) c.3654C>G (p.Thr1218=) c.3765C>G (p.Thr1255=) c.3729C>G (p.Thr1243=) c.3687C>G (p.Thr1229=) c.3651C>G (p.Thr1217=) | |
19 | g.7119553G>T | CA505216512 | INSR | c.3690C>A (p.Thr1230=) c.3654C>A (p.Thr1218=) c.3765C>A (p.Thr1255=) c.3729C>A (p.Thr1243=) c.3687C>A (p.Thr1229=) c.3651C>A (p.Thr1217=) | |
19 | g.7119554G>A | CA403669239 | INSR | c.3689C>T (p.Thr1230Ile) c.3653C>T (p.Thr1218Ile) c.3764C>T (p.Thr1255Ile) c.3728C>T (p.Thr1243Ile) c.3686C>T (p.Thr1229Ile) c.3650C>T (p.Thr1217Ile) | |
19 | g.7119554G>C | CA403669241 | INSR | c.3689C>G (p.Thr1230Ser) c.3653C>G (p.Thr1218Ser) c.3764C>G (p.Thr1255Ser) c.3728C>G (p.Thr1243Ser) c.3686C>G (p.Thr1229Ser) c.3650C>G (p.Thr1217Ser) | dbSNP |
19 | g.7119554G= | CA2320764842 | INSR | c.3689C= (p.Thr1230=) c.3653C= (p.Thr1218=) c.3764C= (p.Thr1255=) c.3728C= (p.Thr1243=) c.3686C= (p.Thr1229=) c.3650C= (p.Thr1217=) | |
19 | g.7119554G>T | CA403669240 | INSR | c.3689C>A (p.Thr1230Asn) c.3653C>A (p.Thr1218Asn) c.3764C>A (p.Thr1255Asn) c.3728C>A (p.Thr1243Asn) c.3686C>A (p.Thr1229Asn) c.3650C>A (p.Thr1217Asn) | |
19 | g.7119555T>A | CA403669242 | INSR | c.3688A>T (p.Thr1230Ser) c.3652A>T (p.Thr1218Ser) c.3763A>T (p.Thr1255Ser) c.3727A>T (p.Thr1243Ser) c.3685A>T (p.Thr1229Ser) c.3649A>T (p.Thr1217Ser) | |
19 | g.7119555T>C | CA403669243 | INSR | c.3688A>G (p.Thr1230Ala) c.3652A>G (p.Thr1218Ala) c.3763A>G (p.Thr1255Ala) c.3727A>G (p.Thr1243Ala) c.3685A>G (p.Thr1229Ala) c.3649A>G (p.Thr1217Ala) | dbSNP gnomAD v4 |
19 | g.7119555T>G | CA403669244 | INSR | c.3688A>C (p.Thr1230Pro) c.3652A>C (p.Thr1218Pro) c.3763A>C (p.Thr1255Pro) c.3727A>C (p.Thr1243Pro) c.3685A>C (p.Thr1229Pro) c.3649A>C (p.Thr1217Pro) | |
19 | g.7119555T= | CA2320764843 | INSR | c.3688A= (p.Thr1230=) c.3652A= (p.Thr1218=) c.3763A= (p.Thr1255=) c.3727A= (p.Thr1243=) c.3685A= (p.Thr1229=) c.3649A= (p.Thr1217=) | |
19 | g.7119556G>A | CA9135164 | INSR | c.3687C>T (p.Ile1229=) c.3651C>T (p.Ile1217=) c.3762C>T (p.Ile1254=) c.3726C>T (p.Ile1242=) c.3684C>T (p.Ile1228=) c.3648C>T (p.Ile1216=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7119556G>C | CA403669245 | INSR | c.3687C>G (p.Ile1229Met) c.3651C>G (p.Ile1217Met) c.3762C>G (p.Ile1254Met) c.3726C>G (p.Ile1242Met) c.3684C>G (p.Ile1228Met) c.3648C>G (p.Ile1216Met) | |
19 | g.7119556G= | CA2320764844 | INSR | c.3687C= (p.Ile1229=) c.3651C= (p.Ile1217=) c.3762C= (p.Ile1254=) c.3726C= (p.Ile1242=) c.3684C= (p.Ile1228=) c.3648C= (p.Ile1216=) | |
19 | g.7119556G>T | CA505216517 | INSR | c.3687C>A (p.Ile1229=) c.3651C>A (p.Ile1217=) c.3762C>A (p.Ile1254=) c.3726C>A (p.Ile1242=) c.3684C>A (p.Ile1228=) c.3648C>A (p.Ile1216=) | gnomAD v4 |
19 | g.7119557A>C | CA403669246 | INSR | c.3686T>G (p.Ile1229Ser) c.3650T>G (p.Ile1217Ser) c.3761T>G (p.Ile1254Ser) c.3725T>G (p.Ile1242Ser) c.3683T>G (p.Ile1228Ser) c.3647T>G (p.Ile1216Ser) | |
19 | g.7119557A>G | CA403669247 | INSR | c.3686T>C (p.Ile1229Thr) c.3650T>C (p.Ile1217Thr) c.3761T>C (p.Ile1254Thr) c.3725T>C (p.Ile1242Thr) c.3683T>C (p.Ile1228Thr) c.3647T>C (p.Ile1216Thr) | |
19 | g.7119557A>T | CA403669248 | INSR | c.3686T>A (p.Ile1229Asn) c.3650T>A (p.Ile1217Asn) c.3761T>A (p.Ile1254Asn) c.3725T>A (p.Ile1242Asn) c.3683T>A (p.Ile1228Asn) c.3647T>A (p.Ile1216Asn) | |
19 | g.7119558T>A | CA403669249 | INSR | c.3685A>T (p.Ile1229Phe) c.3649A>T (p.Ile1217Phe) c.3760A>T (p.Ile1254Phe) c.3724A>T (p.Ile1242Phe) c.3682A>T (p.Ile1228Phe) c.3646A>T (p.Ile1216Phe) | |
19 | g.7119558T>C | CA9135165 | INSR | c.3685A>G (p.Ile1229Val) c.3649A>G (p.Ile1217Val) c.3760A>G (p.Ile1254Val) c.3724A>G (p.Ile1242Val) c.3682A>G (p.Ile1228Val) c.3646A>G (p.Ile1216Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7119558T>G | CA403669250 | INSR | c.3685A>C (p.Ile1229Leu) c.3649A>C (p.Ile1217Leu) c.3760A>C (p.Ile1254Leu) c.3724A>C (p.Ile1242Leu) c.3682A>C (p.Ile1228Leu) c.3646A>C (p.Ile1216Leu) | dbSNP gnomAD v4 |
19 | g.7119558T= | CA2320764845 | INSR | c.3685A= (p.Ile1229=) c.3649A= (p.Ile1217=) c.3760A= (p.Ile1254=) c.3724A= (p.Ile1242=) c.3682A= (p.Ile1228=) c.3646A= (p.Ile1216=) | |
19 | g.7119559T>A | CA403669252 | INSR | c.3684A>T (p.Glu1228Asp) c.3648A>T (p.Glu1216Asp) c.3759A>T (p.Glu1253Asp) c.3723A>T (p.Glu1241Asp) c.3681A>T (p.Glu1227Asp) c.3645A>T (p.Glu1215Asp) | |
19 | g.7119559T>C | CA505216519 | INSR | c.3684A>G (p.Glu1228=) c.3648A>G (p.Glu1216=) c.3759A>G (p.Glu1253=) c.3723A>G (p.Glu1241=) c.3681A>G (p.Glu1227=) c.3645A>G (p.Glu1215=) | |
19 | g.7119559T>G | CA403669251 | INSR | c.3684A>C (p.Glu1228Asp) c.3648A>C (p.Glu1216Asp) c.3759A>C (p.Glu1253Asp) c.3723A>C (p.Glu1241Asp) c.3681A>C (p.Glu1227Asp) c.3645A>C (p.Glu1215Asp) | |
19 | g.7119560T>A | CA403669253 | INSR | c.3683A>T (p.Glu1228Val) c.3647A>T (p.Glu1216Val) c.3758A>T (p.Glu1253Val) c.3722A>T (p.Glu1241Val) c.3680A>T (p.Glu1227Val) c.3644A>T (p.Glu1215Val) | |
19 | g.7119560T>C | CA403669254 | INSR | c.3683A>G (p.Glu1228Gly) c.3647A>G (p.Glu1216Gly) c.3758A>G (p.Glu1253Gly) c.3722A>G (p.Glu1241Gly) c.3680A>G (p.Glu1227Gly) c.3644A>G (p.Glu1215Gly) | |
19 | g.7119560T>G | CA403669255 | INSR | c.3683A>C (p.Glu1228Ala) c.3647A>C (p.Glu1216Ala) c.3758A>C (p.Glu1253Ala) c.3722A>C (p.Glu1241Ala) c.3680A>C (p.Glu1227Ala) c.3644A>C (p.Glu1215Ala) | |
19 | g.7119561C>A | CA403669256 | INSR | c.3682G>T (p.Glu1228Ter) c.3646G>T (p.Glu1216Ter) c.3757G>T (p.Glu1253Ter) c.3721G>T (p.Glu1241Ter) c.3679G>T (p.Glu1227Ter) c.3643G>T (p.Glu1215Ter) | |
19 | g.7119561C= | CA2320764846 | INSR | c.3682G= (p.Glu1228=) c.3646G= (p.Glu1216=) c.3757G= (p.Glu1253=) c.3721G= (p.Glu1241=) c.3679G= (p.Glu1227=) c.3643G= (p.Glu1215=) | |
19 | g.7119561C>G | CA403669257 | INSR | c.3682G>C (p.Glu1228Gln) c.3646G>C (p.Glu1216Gln) c.3757G>C (p.Glu1253Gln) c.3721G>C (p.Glu1241Gln) c.3679G>C (p.Glu1227Gln) c.3643G>C (p.Glu1215Gln) | |
19 | g.7119561C>T | CA304868145 | INSR | c.3682G>A (p.Glu1228Lys) c.3646G>A (p.Glu1216Lys) c.3757G>A (p.Glu1253Lys) c.3721G>A (p.Glu1241Lys) c.3679G>A (p.Glu1227Lys) c.3643G>A (p.Glu1215Lys) | dbSNP |
19 | g.7119561_7119574delinsCCCAAAGGACCACG | CA2320764847 | INSR | c.3669_3682delinsCGTGGTCCTTTGGG (p.Gly1223=) c.3633_3646delinsCGTGGTCCTTTGGG (p.Gly1211=) c.3744_3757delinsCGTGGTCCTTTGGG (p.Gly1248=) c.3708_3721delinsCGTGGTCCTTTGGG (p.Gly1236=) c.3666_3679delinsCGTGGTCCTTTGGG (p.Gly1222=) c.3630_3643delinsCGTGGTCCTTTGGG (p.Gly1210=) | |
19 | g.7119562C>A | CA403669258 | INSR | c.3681G>T (p.Trp1227Cys) c.3645G>T (p.Trp1215Cys) c.3756G>T (p.Trp1252Cys) c.3720G>T (p.Trp1240Cys) c.3678G>T (p.Trp1226Cys) c.3642G>T (p.Trp1214Cys) | |
19 | g.7119562C= | CA2320764848 | INSR | c.3681G= (p.Trp1227=) c.3645G= (p.Trp1215=) c.3756G= (p.Trp1252=) c.3720G= (p.Trp1240=) c.3678G= (p.Trp1226=) c.3642G= (p.Trp1214=) | |
19 | g.7119562C>G | CA403669259 | INSR | c.3681G>C (p.Trp1227Cys) c.3645G>C (p.Trp1215Cys) c.3756G>C (p.Trp1252Cys) c.3720G>C (p.Trp1240Cys) c.3678G>C (p.Trp1226Cys) c.3642G>C (p.Trp1214Cys) | |
19 | g.7119562C>T | CA304868146 | INSR | c.3681G>A (p.Trp1227Ter) c.3645G>A (p.Trp1215Ter) c.3756G>A (p.Trp1252Ter) c.3720G>A (p.Trp1240Ter) c.3678G>A (p.Trp1226Ter) c.3642G>A (p.Trp1214Ter) | dbSNP |
19 | g.7119572_7119584del | CA631692594 | INSR | c.3669_3681del c.3633_3645del c.3744_3756del c.3708_3720del c.3666_3678del c.3630_3642del | dbSNP gnomAD v2 |
19 | g.7119563C>A | CA403669260 | INSR | c.3680G>T (p.Trp1227Leu) c.3644G>T (p.Trp1215Leu) c.3755G>T (p.Trp1252Leu) c.3719G>T (p.Trp1240Leu) c.3677G>T (p.Trp1226Leu) c.3641G>T (p.Trp1214Leu) | |
19 | g.7119563C= | CA2320764849 | INSR | c.3680G= (p.Trp1227=) c.3644G= (p.Trp1215=) c.3755G= (p.Trp1252=) c.3719G= (p.Trp1240=) c.3677G= (p.Trp1226=) c.3641G= (p.Trp1214=) | |
19 | g.7119563C>G | CA124220 | INSR | c.3680G>C (p.Trp1227Ser) c.3644G>C (p.Trp1215Ser) c.3755G>C (p.Trp1252Ser) c.3719G>C (p.Trp1240Ser) c.3677G>C (p.Trp1226Ser) c.3641G>C (p.Trp1214Ser) | ClinVar dbSNP |
19 | g.7119563C>T | CA403669261 | INSR | c.3680G>A (p.Trp1227Ter) c.3644G>A (p.Trp1215Ter) c.3755G>A (p.Trp1252Ter) c.3719G>A (p.Trp1240Ter) c.3677G>A (p.Trp1226Ter) c.3641G>A (p.Trp1214Ter) | dbSNP gnomAD v2 COSMIC COSMIC |
19 | g.7119564A>C | CA403669263 | INSR | c.3679T>G (p.Trp1227Gly) c.3643T>G (p.Trp1215Gly) c.3754T>G (p.Trp1252Gly) c.3718T>G (p.Trp1240Gly) c.3676T>G (p.Trp1226Gly) c.3640T>G (p.Trp1214Gly) | |
19 | g.7119564A>G | CA403669264 | INSR | c.3679T>C (p.Trp1227Arg) c.3643T>C (p.Trp1215Arg) c.3754T>C (p.Trp1252Arg) c.3718T>C (p.Trp1240Arg) c.3676T>C (p.Trp1226Arg) c.3640T>C (p.Trp1214Arg) | |
19 | g.7119564A>T | CA403669262 | INSR | c.3679T>A (p.Trp1227Arg) c.3643T>A (p.Trp1215Arg) c.3754T>A (p.Trp1252Arg) c.3718T>A (p.Trp1240Arg) c.3676T>A (p.Trp1226Arg) c.3640T>A (p.Trp1214Arg) | |
19 | g.7119565A>C | CA505216525 | INSR | c.3678T>G (p.Leu1226=) c.3642T>G (p.Leu1214=) c.3753T>G (p.Leu1251=) c.3717T>G (p.Leu1239=) c.3675T>G (p.Leu1225=) c.3639T>G (p.Leu1213=) | |
19 | g.7119565A>G | CA505216524 | INSR | c.3678T>C (p.Leu1226=) c.3642T>C (p.Leu1214=) c.3753T>C (p.Leu1251=) c.3717T>C (p.Leu1239=) c.3675T>C (p.Leu1225=) c.3639T>C (p.Leu1213=) | gnomAD v4 |
19 | g.7119565A>T | CA505216523 | INSR | c.3678T>A (p.Leu1226=) c.3642T>A (p.Leu1214=) c.3753T>A (p.Leu1251=) c.3717T>A (p.Leu1239=) c.3675T>A (p.Leu1225=) c.3639T>A (p.Leu1213=) | |
19 | g.7119566A>C | CA403669265 | INSR | c.3677T>G (p.Leu1226Arg) c.3641T>G (p.Leu1214Arg) c.3752T>G (p.Leu1251Arg) c.3716T>G (p.Leu1239Arg) c.3674T>G (p.Leu1225Arg) c.3638T>G (p.Leu1213Arg) | |
19 | g.7119566A>G | CA403669266 | INSR | c.3677T>C (p.Leu1226Pro) c.3641T>C (p.Leu1214Pro) c.3752T>C (p.Leu1251Pro) c.3716T>C (p.Leu1239Pro) c.3674T>C (p.Leu1225Pro) c.3638T>C (p.Leu1213Pro) | |
19 | g.7119566A>T | CA403669267 | INSR | c.3677T>A (p.Leu1226His) c.3641T>A (p.Leu1214His) c.3752T>A (p.Leu1251His) c.3716T>A (p.Leu1239His) c.3674T>A (p.Leu1225His) c.3638T>A (p.Leu1213His) | |
19 | g.7119567G>A | CA403669268 | INSR | c.3676C>T (p.Leu1226Phe) c.3640C>T (p.Leu1214Phe) c.3751C>T (p.Leu1251Phe) c.3715C>T (p.Leu1239Phe) c.3673C>T (p.Leu1225Phe) c.3637C>T (p.Leu1213Phe) | |
19 | g.7119567G>C | CA403669269 | INSR | c.3676C>G (p.Leu1226Val) c.3640C>G (p.Leu1214Val) c.3751C>G (p.Leu1251Val) c.3715C>G (p.Leu1239Val) c.3673C>G (p.Leu1225Val) c.3637C>G (p.Leu1213Val) | gnomAD v4 |
19 | g.7119567G>T | CA403669270 | INSR | c.3676C>A (p.Leu1226Ile) c.3640C>A (p.Leu1214Ile) c.3751C>A (p.Leu1251Ile) c.3715C>A (p.Leu1239Ile) c.3673C>A (p.Leu1225Ile) c.3637C>A (p.Leu1213Ile) | |
19 | g.7119568G>A | CA505216527 | INSR | c.3675C>T (p.Val1225=) c.3639C>T (p.Val1213=) c.3750C>T (p.Val1250=) c.3714C>T (p.Val1238=) c.3672C>T (p.Val1224=) c.3636C>T (p.Val1212=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7119568G>C | CA505216528 | INSR | c.3675C>G (p.Val1225=) c.3639C>G (p.Val1213=) c.3750C>G (p.Val1250=) c.3714C>G (p.Val1238=) c.3672C>G (p.Val1224=) c.3636C>G (p.Val1212=) | |
19 | g.7119568G= | CA2320764851 | INSR | c.3675C= (p.Val1225=) c.3639C= (p.Val1213=) c.3750C= (p.Val1250=) c.3714C= (p.Val1238=) c.3672C= (p.Val1224=) c.3636C= (p.Val1212=) | |
19 | g.7119568G>T | CA9135167 | INSR | c.3675C>A (p.Val1225=) c.3639C>A (p.Val1213=) c.3750C>A (p.Val1250=) c.3714C>A (p.Val1238=) c.3672C>A (p.Val1224=) c.3636C>A (p.Val1212=) | dbSNP ExAC gnomAD v2 |
19 | g.7119568_7119569delinsGA | CA2320764850 | INSR | c.3674_3675delinsTC (p.Val1225=) c.3638_3639delinsTC (p.Val1213=) c.3749_3750delinsTC (p.Val1250=) c.3713_3714delinsTC (p.Val1238=) c.3671_3672delinsTC (p.Val1224=) c.3635_3636delinsTC (p.Val1212=) | |
19 | g.7119569del | CA9135166 | INSR | c.3674del (p.Val1225AlafsTer22) c.3638del (p.Val1213AlafsTer22) c.3749del (p.Val1250AlafsTer22) c.3713del (p.Val1238AlafsTer22) c.3671del (p.Val1224AlafsTer22) c.3635del (p.Val1212AlafsTer22) | dbSNP ExAC |
19 | g.7119569A= | CA2320764852 | INSR | c.3674T= (p.Val1225=) c.3638T= (p.Val1213=) c.3749T= (p.Val1250=) c.3713T= (p.Val1238=) c.3671T= (p.Val1224=) c.3635T= (p.Val1212=) | |
19 | g.7119569A>C | CA403669271 | INSR | c.3674T>G (p.Val1225Gly) c.3638T>G (p.Val1213Gly) c.3749T>G (p.Val1250Gly) c.3713T>G (p.Val1238Gly) c.3671T>G (p.Val1224Gly) c.3635T>G (p.Val1212Gly) | dbSNP |
19 | g.7119569A>G | CA403669272 | INSR | c.3674T>C (p.Val1225Ala) c.3638T>C (p.Val1213Ala) c.3749T>C (p.Val1250Ala) c.3713T>C (p.Val1238Ala) c.3671T>C (p.Val1224Ala) c.3635T>C (p.Val1212Ala) | |
19 | g.7119569A>T | CA403669273 | INSR | c.3674T>A (p.Val1225Asp) c.3638T>A (p.Val1213Asp) c.3749T>A (p.Val1250Asp) c.3713T>A (p.Val1238Asp) c.3671T>A (p.Val1224Asp) c.3635T>A (p.Val1212Asp) | |
19 | g.7119570C>A | CA403669274 | INSR | c.3673G>T (p.Val1225Phe) c.3637G>T (p.Val1213Phe) c.3748G>T (p.Val1250Phe) c.3712G>T (p.Val1238Phe) c.3670G>T (p.Val1224Phe) c.3634G>T (p.Val1212Phe) | |
19 | g.7119570C>G | CA403669275 | INSR | c.3673G>C (p.Val1225Leu) c.3637G>C (p.Val1213Leu) c.3748G>C (p.Val1250Leu) c.3712G>C (p.Val1238Leu) c.3670G>C (p.Val1224Leu) c.3634G>C (p.Val1212Leu) | |
19 | g.7119570C>T | CA403669276 | INSR | c.3673G>A (p.Val1225Ile) c.3637G>A (p.Val1213Ile) c.3748G>A (p.Val1250Ile) c.3712G>A (p.Val1238Ile) c.3670G>A (p.Val1224Ile) c.3634G>A (p.Val1212Ile) | |
19 | g.7119570_7119582delinsCCACGCCAAAGGA | CA2320764853 | INSR | c.3661_3673delinsTCCTTTGGCGTGG (p.Ser1221=) c.3625_3637delinsTCCTTTGGCGTGG (p.Ser1209=) c.3736_3748delinsTCCTTTGGCGTGG (p.Ser1246=) c.3700_3712delinsTCCTTTGGCGTGG (p.Ser1234=) c.3658_3670delinsTCCTTTGGCGTGG (p.Ser1220=) c.3622_3634delinsTCCTTTGGCGTGG (p.Ser1208=) | |
19 | g.7119571C>A | CA505216529 | INSR | c.3672G>T (p.Val1224=) c.3636G>T (p.Val1212=) c.3747G>T (p.Val1249=) c.3711G>T (p.Val1237=) c.3669G>T (p.Val1223=) c.3633G>T (p.Val1211=) | |
19 | g.7119571C>G | CA505216530 | INSR | c.3672G>C (p.Val1224=) c.3636G>C (p.Val1212=) c.3747G>C (p.Val1249=) c.3711G>C (p.Val1237=) c.3669G>C (p.Val1223=) c.3633G>C (p.Val1211=) | |
19 | g.7119571C>T | CA505216531 | INSR | c.3672G>A (p.Val1224=) c.3636G>A (p.Val1212=) c.3747G>A (p.Val1249=) c.3711G>A (p.Val1237=) c.3669G>A (p.Val1223=) c.3633G>A (p.Val1211=) | |
19 | g.7119572_7119583del | CA9135168 | INSR | c.3661_3672del (p.Ser1221_Val1224del) c.3625_3636del (p.Ser1209_Val1212del) c.3736_3747del (p.Ser1246_Val1249del) c.3700_3711del (p.Ser1234_Val1237del) c.3658_3669del (p.Ser1220_Val1223del) c.3622_3633del (p.Ser1208_Val1211del) | dbSNP ExAC |
19 | g.7119572A>C | CA403669278 | INSR | c.3671T>G (p.Val1224Gly) c.3635T>G (p.Val1212Gly) c.3746T>G (p.Val1249Gly) c.3710T>G (p.Val1237Gly) c.3668T>G (p.Val1223Gly) c.3632T>G (p.Val1211Gly) | |
19 | g.7119572A>G | CA403669277 | INSR | c.3671T>C (p.Val1224Ala) c.3635T>C (p.Val1212Ala) c.3746T>C (p.Val1249Ala) c.3710T>C (p.Val1237Ala) c.3668T>C (p.Val1223Ala) c.3632T>C (p.Val1211Ala) | |
19 | g.7119572A>T | CA403669279 | INSR | c.3671T>A (p.Val1224Glu) c.3635T>A (p.Val1212Glu) c.3746T>A (p.Val1249Glu) c.3710T>A (p.Val1237Glu) c.3668T>A (p.Val1223Glu) c.3632T>A (p.Val1211Glu) | |
19 | g.7119573C>A | CA403669280 | INSR | c.3670G>T (p.Val1224Leu) c.3634G>T (p.Val1212Leu) c.3745G>T (p.Val1249Leu) c.3709G>T (p.Val1237Leu) c.3667G>T (p.Val1223Leu) c.3631G>T (p.Val1211Leu) | |
19 | g.7119573C= | CA2320764854 | INSR | c.3670G= (p.Val1224=) c.3634G= (p.Val1212=) c.3745G= (p.Val1249=) c.3709G= (p.Val1237=) c.3667G= (p.Val1223=) c.3631G= (p.Val1211=) | |
19 | g.7119573C>G | CA403669281 | INSR | c.3670G>C (p.Val1224Leu) c.3634G>C (p.Val1212Leu) c.3745G>C (p.Val1249Leu) c.3709G>C (p.Val1237Leu) c.3667G>C (p.Val1223Leu) c.3631G>C (p.Val1211Leu) | |
19 | g.7119573C>T | CA9135169 | INSR | c.3670G>A (p.Val1224Met) c.3634G>A (p.Val1212Met) c.3745G>A (p.Val1249Met) c.3709G>A (p.Val1237Met) c.3667G>A (p.Val1223Met) c.3631G>A (p.Val1211Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7119574G>A | CA9135171 | INSR | c.3669C>T (p.Gly1223=) c.3633C>T (p.Gly1211=) c.3744C>T (p.Gly1248=) c.3708C>T (p.Gly1236=) c.3666C>T (p.Gly1222=) c.3630C>T (p.Gly1210=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7119574G>C | CA9135170 | INSR | c.3669C>G (p.Gly1223=) c.3633C>G (p.Gly1211=) c.3744C>G (p.Gly1248=) c.3708C>G (p.Gly1236=) c.3666C>G (p.Gly1222=) c.3630C>G (p.Gly1210=) | dbSNP ExAC COSMIC COSMIC |
19 | g.7119574G= | CA2320764855 | INSR | c.3669C= (p.Gly1223=) c.3633C= (p.Gly1211=) c.3744C= (p.Gly1248=) c.3708C= (p.Gly1236=) c.3666C= (p.Gly1222=) c.3630C= (p.Gly1210=) | |
19 | g.7119574G>T | CA505216532 | INSR | c.3669C>A (p.Gly1223=) c.3633C>A (p.Gly1211=) c.3744C>A (p.Gly1248=) c.3708C>A (p.Gly1236=) c.3666C>A (p.Gly1222=) c.3630C>A (p.Gly1210=) | |
19 | g.7119575C>A | CA403669282 | INSR | c.3668G>T (p.Gly1223Val) c.3632G>T (p.Gly1211Val) c.3743G>T (p.Gly1248Val) c.3707G>T (p.Gly1236Val) c.3665G>T (p.Gly1222Val) c.3629G>T (p.Gly1210Val) | |
19 | g.7119575C= | CA2320764856 | INSR | c.3668G= (p.Gly1223=) c.3632G= (p.Gly1211=) c.3743G= (p.Gly1248=) c.3707G= (p.Gly1236=) c.3665G= (p.Gly1222=) c.3629G= (p.Gly1210=) | |
19 | g.7119575C>G | CA403669283 | INSR | c.3668G>C (p.Gly1223Ala) c.3632G>C (p.Gly1211Ala) c.3743G>C (p.Gly1248Ala) c.3707G>C (p.Gly1236Ala) c.3665G>C (p.Gly1222Ala) c.3629G>C (p.Gly1210Ala) | |
19 | g.7119575C>T | CA403669284 | INSR | c.3668G>A (p.Gly1223Asp) c.3632G>A (p.Gly1211Asp) c.3743G>A (p.Gly1248Asp) c.3707G>A (p.Gly1236Asp) c.3665G>A (p.Gly1222Asp) c.3629G>A (p.Gly1210Asp) | ClinVar dbSNP |