| 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) |