| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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.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 |
| 19 | g.7119576C>A | CA9135172 | INSR | c.3667G>T (p.Gly1223Cys) c.3631G>T (p.Gly1211Cys) c.3742G>T (p.Gly1248Cys) c.3706G>T (p.Gly1236Cys) c.3664G>T (p.Gly1222Cys) c.3628G>T (p.Gly1210Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7119576C= | CA2320764858 | INSR | c.3667G= (p.Gly1223=) c.3631G= (p.Gly1211=) c.3742G= (p.Gly1248=) c.3706G= (p.Gly1236=) c.3664G= (p.Gly1222=) c.3628G= (p.Gly1210=) | |
| 19 | g.7119576C>G | CA403669285 | INSR | c.3667G>C (p.Gly1223Arg) c.3631G>C (p.Gly1211Arg) c.3742G>C (p.Gly1248Arg) c.3706G>C (p.Gly1236Arg) c.3664G>C (p.Gly1222Arg) c.3628G>C (p.Gly1210Arg) | |
| 19 | g.7119576C>T | CA403669286 | INSR | c.3667G>A (p.Gly1223Ser) c.3631G>A (p.Gly1211Ser) c.3742G>A (p.Gly1248Ser) c.3706G>A (p.Gly1236Ser) c.3664G>A (p.Gly1222Ser) c.3628G>A (p.Gly1210Ser) | |
| 19 | g.7119576_7119582delinsCAAAGGA | CA2320764857 | INSR | c.3661_3667delinsTCCTTTG (p.Ser1221=) c.3625_3631delinsTCCTTTG (p.Ser1209=) c.3736_3742delinsTCCTTTG (p.Ser1246=) c.3700_3706delinsTCCTTTG (p.Ser1234=) c.3658_3664delinsTCCTTTG (p.Ser1220=) c.3622_3628delinsTCCTTTG (p.Ser1208=) | |
| 19 | g.7119577A= | CA2320764859 | INSR | c.3666T= (p.Phe1222=) c.3630T= (p.Phe1210=) c.3741T= (p.Phe1247=) c.3705T= (p.Phe1235=) c.3663T= (p.Phe1221=) c.3627T= (p.Phe1209=) | |
| 19 | g.7119577A>C | CA403669287 | INSR | c.3666T>G (p.Phe1222Leu) c.3630T>G (p.Phe1210Leu) c.3741T>G (p.Phe1247Leu) c.3705T>G (p.Phe1235Leu) c.3663T>G (p.Phe1221Leu) c.3627T>G (p.Phe1209Leu) | |
| 19 | g.7119577A>G | CA304868209 | INSR | c.3666T>C (p.Phe1222=) c.3630T>C (p.Phe1210=) c.3741T>C (p.Phe1247=) c.3705T>C (p.Phe1235=) c.3663T>C (p.Phe1221=) c.3627T>C (p.Phe1209=) | dbSNP gnomAD v4 |
| 19 | g.7119577A>T | CA403669288 | INSR | c.3666T>A (p.Phe1222Leu) c.3630T>A (p.Phe1210Leu) c.3741T>A (p.Phe1247Leu) c.3705T>A (p.Phe1235Leu) c.3663T>A (p.Phe1221Leu) c.3627T>A (p.Phe1209Leu) | |
| 19 | g.7119577_7119582del | CA505216534 | INSR | c.3661_3666del (p.Ser1221_Phe1222del) c.3625_3630del (p.Ser1209_Phe1210del) c.3736_3741del (p.Ser1246_Phe1247del) c.3700_3705del (p.Ser1234_Phe1235del) c.3658_3663del (p.Ser1220_Phe1221del) c.3622_3627del (p.Ser1208_Phe1209del) | dbSNP |
| 19 | g.7119578A>C | CA403669292 | INSR | c.3665T>G (p.Phe1222Cys) c.3629T>G (p.Phe1210Cys) c.3740T>G (p.Phe1247Cys) c.3704T>G (p.Phe1235Cys) c.3662T>G (p.Phe1221Cys) c.3626T>G (p.Phe1209Cys) | |
| 19 | g.7119578A>G | CA403669289 | INSR | c.3665T>C (p.Phe1222Ser) c.3629T>C (p.Phe1210Ser) c.3740T>C (p.Phe1247Ser) c.3704T>C (p.Phe1235Ser) c.3662T>C (p.Phe1221Ser) c.3626T>C (p.Phe1209Ser) | |
| 19 | g.7119578A>T | CA403669291 | INSR | c.3665T>A (p.Phe1222Tyr) c.3629T>A (p.Phe1210Tyr) c.3740T>A (p.Phe1247Tyr) c.3704T>A (p.Phe1235Tyr) c.3662T>A (p.Phe1221Tyr) c.3626T>A (p.Phe1209Tyr) | |
| 19 | g.7119578_7119583del | CA403669290 | INSR | c.3660_3665del (p.Trp1220_Phe1222delinsCys) c.3624_3629del (p.Trp1208_Phe1210delinsCys) c.3735_3740del (p.Trp1245_Phe1247delinsCys) c.3699_3704del (p.Trp1233_Phe1235delinsCys) c.3657_3662del (p.Trp1219_Phe1221delinsCys) c.3621_3626del (p.Trp1207_Phe1209delinsCys) | |
| 19 | g.7119579A>C | CA403669293 | INSR | c.3664T>G (p.Phe1222Val) c.3628T>G (p.Phe1210Val) c.3739T>G (p.Phe1247Val) c.3703T>G (p.Phe1235Val) c.3661T>G (p.Phe1221Val) c.3625T>G (p.Phe1209Val) | |
| 19 | g.7119579A>G | CA403669294 | INSR | c.3664T>C (p.Phe1222Leu) c.3628T>C (p.Phe1210Leu) c.3739T>C (p.Phe1247Leu) c.3703T>C (p.Phe1235Leu) c.3661T>C (p.Phe1221Leu) c.3625T>C (p.Phe1209Leu) | |
| 19 | g.7119579A>T | CA403669295 | INSR | c.3664T>A (p.Phe1222Ile) c.3628T>A (p.Phe1210Ile) c.3739T>A (p.Phe1247Ile) c.3703T>A (p.Phe1235Ile) c.3661T>A (p.Phe1221Ile) c.3625T>A (p.Phe1209Ile) | |
| 19 | g.7119580G>A | CA505216540 | INSR | c.3663C>T (p.Ser1221=) c.3627C>T (p.Ser1209=) c.3738C>T (p.Ser1246=) c.3702C>T (p.Ser1234=) c.3660C>T (p.Ser1220=) c.3624C>T (p.Ser1208=) | |
| 19 | g.7119580G>C | CA505216539 | INSR | c.3663C>G (p.Ser1221=) c.3627C>G (p.Ser1209=) c.3738C>G (p.Ser1246=) c.3702C>G (p.Ser1234=) c.3660C>G (p.Ser1220=) c.3624C>G (p.Ser1208=) | |
| 19 | g.7119580G>T | CA505216541 | INSR | c.3663C>A (p.Ser1221=) c.3627C>A (p.Ser1209=) c.3738C>A (p.Ser1246=) c.3702C>A (p.Ser1234=) c.3660C>A (p.Ser1220=) c.3624C>A (p.Ser1208=) | |
| 19 | g.7119581G>A | CA9135173 | INSR | c.3662C>T (p.Ser1221Phe) c.3626C>T (p.Ser1209Phe) c.3737C>T (p.Ser1246Phe) c.3701C>T (p.Ser1234Phe) c.3659C>T (p.Ser1220Phe) c.3623C>T (p.Ser1208Phe) | dbSNP ExAC |
| 19 | g.7119581G>C | CA403669296 | INSR | c.3662C>G (p.Ser1221Cys) c.3626C>G (p.Ser1209Cys) c.3737C>G (p.Ser1246Cys) c.3701C>G (p.Ser1234Cys) c.3659C>G (p.Ser1220Cys) c.3623C>G (p.Ser1208Cys) | |
| 19 | g.7119581G= | CA2320764860 | INSR | c.3662C= (p.Ser1221=) c.3626C= (p.Ser1209=) c.3737C= (p.Ser1246=) c.3701C= (p.Ser1234=) c.3659C= (p.Ser1220=) c.3623C= (p.Ser1208=) | |
| 19 | g.7119581G>T | CA403669297 | INSR | c.3662C>A (p.Ser1221Tyr) c.3626C>A (p.Ser1209Tyr) c.3737C>A (p.Ser1246Tyr) c.3701C>A (p.Ser1234Tyr) c.3659C>A (p.Ser1220Tyr) c.3623C>A (p.Ser1208Tyr) | |
| 19 | g.7119582A= | CA2320764861 | INSR | c.3661T= (p.Ser1221=) c.3625T= (p.Ser1209=) c.3736T= (p.Ser1246=) c.3700T= (p.Ser1234=) c.3658T= (p.Ser1220=) c.3622T= (p.Ser1208=) | |
| 19 | g.7119582A>C | CA9135174 | INSR | c.3661T>G (p.Ser1221Ala) c.3625T>G (p.Ser1209Ala) c.3736T>G (p.Ser1246Ala) c.3700T>G (p.Ser1234Ala) c.3658T>G (p.Ser1220Ala) c.3622T>G (p.Ser1208Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7119582A>G | CA403669298 | INSR | c.3661T>C (p.Ser1221Pro) c.3625T>C (p.Ser1209Pro) c.3736T>C (p.Ser1246Pro) c.3700T>C (p.Ser1234Pro) c.3658T>C (p.Ser1220Pro) c.3622T>C (p.Ser1208Pro) | |
| 19 | g.7119582A>T | CA403669299 | INSR | c.3661T>A (p.Ser1221Thr) c.3625T>A (p.Ser1209Thr) c.3736T>A (p.Ser1246Thr) c.3700T>A (p.Ser1234Thr) c.3658T>A (p.Ser1220Thr) c.3622T>A (p.Ser1208Thr) | |
| 19 | g.7119583C>A | CA403669300 | INSR | c.3660G>T (p.Trp1220Cys) c.3624G>T (p.Trp1208Cys) c.3735G>T (p.Trp1245Cys) c.3699G>T (p.Trp1233Cys) c.3657G>T (p.Trp1219Cys) c.3621G>T (p.Trp1207Cys) | gnomAD v4 |
| 19 | g.7119583C= | CA2320764862 | INSR | c.3660G= (p.Trp1220=) c.3624G= (p.Trp1208=) c.3735G= (p.Trp1245=) c.3699G= (p.Trp1233=) c.3657G= (p.Trp1219=) c.3621G= (p.Trp1207=) | |
| 19 | g.7119583C>G | CA9135176 | INSR | c.3660G>C (p.Trp1220Cys) c.3624G>C (p.Trp1208Cys) c.3735G>C (p.Trp1245Cys) c.3699G>C (p.Trp1233Cys) c.3657G>C (p.Trp1219Cys) c.3621G>C (p.Trp1207Cys) | dbSNP ExAC |
| 19 | g.7119583C>T | CA9135175 | INSR | c.3660G>A (p.Trp1220Ter) c.3624G>A (p.Trp1208Ter) c.3735G>A (p.Trp1245Ter) c.3699G>A (p.Trp1233Ter) c.3657G>A (p.Trp1219Ter) c.3621G>A (p.Trp1207Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7119584C>A | CA403669301 | INSR | c.3660-1G>T (n.3660-1G>T) c.3624-1G>T (n.3624-1G>T) c.3735-1G>T (n.3735-1G>T) c.3699-1G>T (n.3699-1G>T) c.3657-1G>T (n.3657-1G>T) c.3621-1G>T (n.3621-1G>T) | |
| 19 | g.7119584C>G | CA403669302 | INSR | c.3660-1G>C (n.3660-1G>C) c.3624-1G>C (n.3624-1G>C) c.3735-1G>C (n.3735-1G>C) c.3699-1G>C (n.3699-1G>C) c.3657-1G>C (n.3657-1G>C) c.3621-1G>C (n.3621-1G>C) | |
| 19 | g.7119584C>T | CA403669303 | INSR | c.3660-1G>A (n.3660-1G>A) c.3624-1G>A (n.3624-1G>A) c.3735-1G>A (n.3735-1G>A) c.3699-1G>A (n.3699-1G>A) c.3657-1G>A (n.3657-1G>A) c.3621-1G>A (n.3621-1G>A) | |
| 19 | g.7119585T>A | CA403669304 | INSR | c.3660-2A>T (n.3660-2A>T) c.3624-2A>T (n.3624-2A>T) c.3735-2A>T (n.3735-2A>T) c.3699-2A>T (n.3699-2A>T) c.3657-2A>T (n.3657-2A>T) c.3621-2A>T (n.3621-2A>T) | |
| 19 | g.7119585T>C | CA403669305 | INSR | c.3660-2A>G (n.3660-2A>G) c.3624-2A>G (n.3624-2A>G) c.3735-2A>G (n.3735-2A>G) c.3699-2A>G (n.3699-2A>G) c.3657-2A>G (n.3657-2A>G) c.3621-2A>G (n.3621-2A>G) | |
| 19 | g.7119585T>G | CA403669306 | INSR | c.3660-2A>C (n.3660-2A>C) c.3624-2A>C (n.3624-2A>C) c.3735-2A>C (n.3735-2A>C) c.3699-2A>C (n.3699-2A>C) c.3657-2A>C (n.3657-2A>C) c.3621-2A>C (n.3621-2A>C) | |
| 19 | g.7119587C>A | CA993115522 | INSR | c.3660-4G>T (n.3660-4G>T) c.3624-4G>T (n.3624-4G>T) c.3735-4G>T (n.3735-4G>T) c.3699-4G>T (n.3699-4G>T) c.3657-4G>T (n.3657-4G>T) c.3621-4G>T (n.3621-4G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7119587C= | CA2320764863 | INSR | c.3660-4G= (n.3660-4G=) c.3624-4G= (n.3624-4G=) c.3735-4G= (n.3735-4G=) c.3699-4G= (n.3699-4G=) c.3657-4G= (n.3657-4G=) c.3621-4G= (n.3621-4G=) | |
| 19 | g.7119588C>A | CA9135177 | INSR | c.3660-5G>T (n.3660-5G>T) c.3624-5G>T (n.3624-5G>T) c.3735-5G>T (n.3735-5G>T) c.3699-5G>T (n.3699-5G>T) c.3657-5G>T (n.3657-5G>T) c.3621-5G>T (n.3621-5G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7119588C= | CA2320764865 | INSR | c.3660-5G= (n.3660-5G=) c.3624-5G= (n.3624-5G=) c.3735-5G= (n.3735-5G=) c.3699-5G= (n.3699-5G=) c.3657-5G= (n.3657-5G=) c.3621-5G= (n.3621-5G=) | |
| 19 | g.7119588C>G | CA9135178 | INSR | c.3660-5G>C (n.3660-5G>C) c.3624-5G>C (n.3624-5G>C) c.3735-5G>C (n.3735-5G>C) c.3699-5G>C (n.3699-5G>C) c.3657-5G>C (n.3657-5G>C) c.3621-5G>C (n.3621-5G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |