Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.7125455_7125475dup | CA2587922098 | INSR | c.3067_3087dup (p.Leu1029_Gly1030insIleThrLeuLeuArgGluLeu) c.3031_3051dup (p.Leu1017_Gly1018insIleThrLeuLeuArgGluLeu) c.3142_3162dup (p.Leu1054_Gly1055insIleThrLeuLeuArgGluLeu) c.3106_3126dup (p.Leu1042_Gly1043insIleThrLeuLeuArgGluLeu) c.3064_3084dup (p.Leu1028_Gly1029insIleThrLeuLeuArgGluLeu) c.3028_3048dup (p.Leu1016_Gly1017insIleThrLeuLeuArgGluLeu) | gnomAD v4 |
19 | g.7125455A>C | CA403671338 | INSR | c.3086T>G (p.Leu1029Arg) c.3050T>G (p.Leu1017Arg) c.3161T>G (p.Leu1054Arg) c.3125T>G (p.Leu1042Arg) c.3083T>G (p.Leu1028Arg) c.3047T>G (p.Leu1016Arg) | |
19 | g.7125455A>G | CA403671339 | INSR | c.3086T>C (p.Leu1029Pro) c.3050T>C (p.Leu1017Pro) c.3161T>C (p.Leu1054Pro) c.3125T>C (p.Leu1042Pro) c.3083T>C (p.Leu1028Pro) c.3047T>C (p.Leu1016Pro) | |
19 | g.7125455A>T | CA403671340 | INSR | c.3086T>A (p.Leu1029Gln) c.3050T>A (p.Leu1017Gln) c.3161T>A (p.Leu1054Gln) c.3125T>A (p.Leu1042Gln) c.3083T>A (p.Leu1028Gln) c.3047T>A (p.Leu1016Gln) | |
19 | g.7125456G>A | CA505400263 | INSR | c.3085C>T (p.Leu1029=) c.3049C>T (p.Leu1017=) c.3160C>T (p.Leu1054=) c.3124C>T (p.Leu1042=) c.3082C>T (p.Leu1028=) c.3046C>T (p.Leu1016=) | gnomAD v4 |
19 | g.7125456G>C | CA403671341 | INSR | c.3085C>G (p.Leu1029Val) c.3049C>G (p.Leu1017Val) c.3160C>G (p.Leu1054Val) c.3124C>G (p.Leu1042Val) c.3082C>G (p.Leu1028Val) c.3046C>G (p.Leu1016Val) | |
19 | g.7125456G>T | CA403671342 | INSR | c.3085C>A (p.Leu1029Met) c.3049C>A (p.Leu1017Met) c.3160C>A (p.Leu1054Met) c.3124C>A (p.Leu1042Met) c.3082C>A (p.Leu1028Met) c.3046C>A (p.Leu1016Met) | |
19 | g.7125457C>A | CA403671343 | INSR | c.3084G>T (p.Glu1028Asp) c.3048G>T (p.Glu1016Asp) c.3159G>T (p.Glu1053Asp) c.3123G>T (p.Glu1041Asp) c.3081G>T (p.Glu1027Asp) c.3045G>T (p.Glu1015Asp) | |
19 | g.7125457C>G | CA403671344 | INSR | c.3084G>C (p.Glu1028Asp) c.3048G>C (p.Glu1016Asp) c.3159G>C (p.Glu1053Asp) c.3123G>C (p.Glu1041Asp) c.3081G>C (p.Glu1027Asp) c.3045G>C (p.Glu1015Asp) | |
19 | g.7125457C>T | CA505400264 | INSR | c.3084G>A (p.Glu1028=) c.3048G>A (p.Glu1016=) c.3159G>A (p.Glu1053=) c.3123G>A (p.Glu1041=) c.3081G>A (p.Glu1027=) c.3045G>A (p.Glu1015=) | |
19 | g.7125458T>A | CA403671345 | INSR | c.3083A>T (p.Glu1028Val) c.3047A>T (p.Glu1016Val) c.3158A>T (p.Glu1053Val) c.3122A>T (p.Glu1041Val) c.3080A>T (p.Glu1027Val) c.3044A>T (p.Glu1015Val) | |
19 | g.7125458T>C | CA403671346 | INSR | c.3083A>G (p.Glu1028Gly) c.3047A>G (p.Glu1016Gly) c.3158A>G (p.Glu1053Gly) c.3122A>G (p.Glu1041Gly) c.3080A>G (p.Glu1027Gly) c.3044A>G (p.Glu1015Gly) | |
19 | g.7125458T>G | CA9135362 | INSR | c.3083A>C (p.Glu1028Ala) c.3047A>C (p.Glu1016Ala) c.3158A>C (p.Glu1053Ala) c.3122A>C (p.Glu1041Ala) c.3080A>C (p.Glu1027Ala) c.3044A>C (p.Glu1015Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7125458T= | CA2320767970 | INSR | c.3083A= (p.Glu1028=) c.3047A= (p.Glu1016=) c.3158A= (p.Glu1053=) c.3122A= (p.Glu1041=) c.3080A= (p.Glu1027=) c.3044A= (p.Glu1015=) | |
19 | g.7125459C>A | CA403671347 | INSR | c.3082G>T (p.Glu1028Ter) c.3046G>T (p.Glu1016Ter) c.3157G>T (p.Glu1053Ter) c.3121G>T (p.Glu1041Ter) c.3079G>T (p.Glu1027Ter) c.3043G>T (p.Glu1015Ter) | |
19 | g.7125459C>G | CA403671349 | INSR | c.3082G>C (p.Glu1028Gln) c.3046G>C (p.Glu1016Gln) c.3157G>C (p.Glu1053Gln) c.3121G>C (p.Glu1041Gln) c.3079G>C (p.Glu1027Gln) c.3043G>C (p.Glu1015Gln) | |
19 | g.7125459C>T | CA403671348 | INSR | c.3082G>A (p.Glu1028Lys) c.3046G>A (p.Glu1016Lys) c.3157G>A (p.Glu1053Lys) c.3121G>A (p.Glu1041Lys) c.3079G>A (p.Glu1027Lys) c.3043G>A (p.Glu1015Lys) | COSMIC COSMIC |
19 | g.7125460T>A | CA505400265 | INSR | c.3081A>T (p.Arg1027=) c.3045A>T (p.Arg1015=) c.3156A>T (p.Arg1052=) c.3120A>T (p.Arg1040=) c.3078A>T (p.Arg1026=) c.3042A>T (p.Arg1014=) | |
19 | g.7125460T>C | CA505400266 | INSR | c.3081A>G (p.Arg1027=) c.3045A>G (p.Arg1015=) c.3156A>G (p.Arg1052=) c.3120A>G (p.Arg1040=) c.3078A>G (p.Arg1026=) c.3042A>G (p.Arg1014=) | |
19 | g.7125460T>G | CA505400267 | INSR | c.3081A>C (p.Arg1027=) c.3045A>C (p.Arg1015=) c.3156A>C (p.Arg1052=) c.3120A>C (p.Arg1040=) c.3078A>C (p.Arg1026=) c.3042A>C (p.Arg1014=) | |
19 | g.7125461C>A | CA403671350 | INSR | c.3080G>T (p.Arg1027Leu) c.3044G>T (p.Arg1015Leu) c.3155G>T (p.Arg1052Leu) c.3119G>T (p.Arg1040Leu) c.3077G>T (p.Arg1026Leu) c.3041G>T (p.Arg1014Leu) | |
19 | g.7125461C= | CA2320767971 | INSR | c.3080G= (p.Arg1027=) c.3044G= (p.Arg1015=) c.3155G= (p.Arg1052=) c.3119G= (p.Arg1040=) c.3077G= (p.Arg1026=) c.3041G= (p.Arg1014=) | |
19 | g.7125461C>G | CA403671351 | INSR | c.3080G>C (p.Arg1027Pro) c.3044G>C (p.Arg1015Pro) c.3155G>C (p.Arg1052Pro) c.3119G>C (p.Arg1040Pro) c.3077G>C (p.Arg1026Pro) c.3041G>C (p.Arg1014Pro) | |
19 | g.7125461C>T | CA9135363 | INSR | c.3080G>A (p.Arg1027Gln) c.3044G>A (p.Arg1015Gln) c.3155G>A (p.Arg1052Gln) c.3119G>A (p.Arg1040Gln) c.3077G>A (p.Arg1026Gln) c.3041G>A (p.Arg1014Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7125462G>A | CA124233 | INSR | c.3079C>T (p.Arg1027Ter) c.3043C>T (p.Arg1015Ter) c.3154C>T (p.Arg1052Ter) c.3118C>T (p.Arg1040Ter) c.3076C>T (p.Arg1026Ter) c.3040C>T (p.Arg1014Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.7125462G>C | CA403671352 | INSR | c.3079C>G (p.Arg1027Gly) c.3043C>G (p.Arg1015Gly) c.3154C>G (p.Arg1052Gly) c.3118C>G (p.Arg1040Gly) c.3076C>G (p.Arg1026Gly) c.3040C>G (p.Arg1014Gly) | |
19 | g.7125462G= | CA2320767972 | INSR | c.3079C= (p.Arg1027=) c.3043C= (p.Arg1015=) c.3154C= (p.Arg1052=) c.3118C= (p.Arg1040=) c.3076C= (p.Arg1026=) c.3040C= (p.Arg1014=) | |
19 | g.7125462G>T | CA505400268 | INSR | c.3079C>A (p.Arg1027=) c.3043C>A (p.Arg1015=) c.3154C>A (p.Arg1052=) c.3118C>A (p.Arg1040=) c.3076C>A (p.Arg1026=) c.3040C>A (p.Arg1014=) | |
19 | g.7125463_7125465del | CA2695228020 | INSR | c.3077_3079del (p.Leu1026del) c.3041_3043del (p.Leu1014del) c.3152_3154del (p.Leu1051del) c.3116_3118del (p.Leu1039del) c.3074_3076del (p.Leu1025del) c.3038_3040del (p.Leu1013del) | |
19 | g.7125463A= | CA2320767973 | INSR | c.3078T= (p.Leu1026=) c.3042T= (p.Leu1014=) c.3153T= (p.Leu1051=) c.3117T= (p.Leu1039=) c.3075T= (p.Leu1025=) c.3039T= (p.Leu1013=) | |
19 | g.7125463A>C | CA505400269 | INSR | c.3078T>G (p.Leu1026=) c.3042T>G (p.Leu1014=) c.3153T>G (p.Leu1051=) c.3117T>G (p.Leu1039=) c.3075T>G (p.Leu1025=) c.3039T>G (p.Leu1013=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7125463A>G | CA505400270 | INSR | c.3078T>C (p.Leu1026=) c.3042T>C (p.Leu1014=) c.3153T>C (p.Leu1051=) c.3117T>C (p.Leu1039=) c.3075T>C (p.Leu1025=) c.3039T>C (p.Leu1013=) | |
19 | g.7125463A>T | CA505400271 | INSR | c.3078T>A (p.Leu1026=) c.3042T>A (p.Leu1014=) c.3153T>A (p.Leu1051=) c.3117T>A (p.Leu1039=) c.3075T>A (p.Leu1025=) c.3039T>A (p.Leu1013=) | |
19 | g.7125464A>C | CA403671353 | INSR | c.3077T>G (p.Leu1026Arg) c.3041T>G (p.Leu1014Arg) c.3152T>G (p.Leu1051Arg) c.3116T>G (p.Leu1039Arg) c.3074T>G (p.Leu1025Arg) c.3038T>G (p.Leu1013Arg) | |
19 | g.7125464A>G | CA403671354 | INSR | c.3077T>C (p.Leu1026Pro) c.3041T>C (p.Leu1014Pro) c.3152T>C (p.Leu1051Pro) c.3116T>C (p.Leu1039Pro) c.3074T>C (p.Leu1025Pro) c.3038T>C (p.Leu1013Pro) | |
19 | g.7125464A>T | CA403671355 | INSR | c.3077T>A (p.Leu1026His) c.3041T>A (p.Leu1014His) c.3152T>A (p.Leu1051His) c.3116T>A (p.Leu1039His) c.3074T>A (p.Leu1025His) c.3038T>A (p.Leu1013His) | |
19 | g.7125465G>A | CA403671356 | INSR | c.3076C>T (p.Leu1026Phe) c.3040C>T (p.Leu1014Phe) c.3151C>T (p.Leu1051Phe) c.3115C>T (p.Leu1039Phe) c.3073C>T (p.Leu1025Phe) c.3037C>T (p.Leu1013Phe) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7125465G>C | CA403671357 | INSR | c.3076C>G (p.Leu1026Val) c.3040C>G (p.Leu1014Val) c.3151C>G (p.Leu1051Val) c.3115C>G (p.Leu1039Val) c.3073C>G (p.Leu1025Val) c.3037C>G (p.Leu1013Val) | |
19 | g.7125465G= | CA2320767974 | INSR | c.3076C= (p.Leu1026=) c.3040C= (p.Leu1014=) c.3151C= (p.Leu1051=) c.3115C= (p.Leu1039=) c.3073C= (p.Leu1025=) c.3037C= (p.Leu1013=) | |
19 | g.7125465G>T | CA403671358 | INSR | c.3076C>A (p.Leu1026Ile) c.3040C>A (p.Leu1014Ile) c.3151C>A (p.Leu1051Ile) c.3115C>A (p.Leu1039Ile) c.3073C>A (p.Leu1025Ile) c.3037C>A (p.Leu1013Ile) | |
19 | g.7125466G>A | CA304873439 | INSR | c.3075C>T (p.Leu1025=) c.3039C>T (p.Leu1013=) c.3150C>T (p.Leu1050=) c.3114C>T (p.Leu1038=) c.3072C>T (p.Leu1024=) c.3036C>T (p.Leu1012=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.7125466G>C | CA505400272 | INSR | c.3075C>G (p.Leu1025=) c.3039C>G (p.Leu1013=) c.3150C>G (p.Leu1050=) c.3114C>G (p.Leu1038=) c.3072C>G (p.Leu1024=) c.3036C>G (p.Leu1012=) | |
19 | g.7125466G= | CA2320767975 | INSR | c.3075C= (p.Leu1025=) c.3039C= (p.Leu1013=) c.3150C= (p.Leu1050=) c.3114C= (p.Leu1038=) c.3072C= (p.Leu1024=) c.3036C= (p.Leu1012=) | |
19 | g.7125466G>T | CA505400273 | INSR | c.3075C>A (p.Leu1025=) c.3039C>A (p.Leu1013=) c.3150C>A (p.Leu1050=) c.3114C>A (p.Leu1038=) c.3072C>A (p.Leu1024=) c.3036C>A (p.Leu1012=) | |
19 | g.7125467A= | CA2320767976 | INSR | c.3074T= (p.Leu1025=) c.3038T= (p.Leu1013=) c.3149T= (p.Leu1050=) c.3113T= (p.Leu1038=) c.3071T= (p.Leu1024=) c.3035T= (p.Leu1012=) | |
19 | g.7125467A>C | CA403671361 | INSR | c.3074T>G (p.Leu1025Arg) c.3038T>G (p.Leu1013Arg) c.3149T>G (p.Leu1050Arg) c.3113T>G (p.Leu1038Arg) c.3071T>G (p.Leu1024Arg) c.3035T>G (p.Leu1012Arg) | |
19 | g.7125467A>G | CA403671360 | INSR | c.3074T>C (p.Leu1025Pro) c.3038T>C (p.Leu1013Pro) c.3149T>C (p.Leu1050Pro) c.3113T>C (p.Leu1038Pro) c.3071T>C (p.Leu1024Pro) c.3035T>C (p.Leu1012Pro) | |
19 | g.7125467A>T | CA403671359 | INSR | c.3074T>A (p.Leu1025His) c.3038T>A (p.Leu1013His) c.3149T>A (p.Leu1050His) c.3113T>A (p.Leu1038His) c.3071T>A (p.Leu1024His) c.3035T>A (p.Leu1012His) | dbSNP |
19 | g.7125468G>A | CA403671362 | INSR | c.3073C>T (p.Leu1025Phe) c.3037C>T (p.Leu1013Phe) c.3148C>T (p.Leu1050Phe) c.3112C>T (p.Leu1038Phe) c.3070C>T (p.Leu1024Phe) c.3034C>T (p.Leu1012Phe) | |
19 | g.7125468G>C | CA403671363 | INSR | c.3073C>G (p.Leu1025Val) c.3037C>G (p.Leu1013Val) c.3148C>G (p.Leu1050Val) c.3112C>G (p.Leu1038Val) c.3070C>G (p.Leu1024Val) c.3034C>G (p.Leu1012Val) | gnomAD v4 |
19 | g.7125468G>T | CA403671364 | INSR | c.3073C>A (p.Leu1025Ile) c.3037C>A (p.Leu1013Ile) c.3148C>A (p.Leu1050Ile) c.3112C>A (p.Leu1038Ile) c.3070C>A (p.Leu1024Ile) c.3034C>A (p.Leu1012Ile) | |
19 | g.7125469G>A | CA505400274 | INSR | c.3072C>T (p.Thr1024=) c.3036C>T (p.Thr1012=) c.3147C>T (p.Thr1049=) c.3111C>T (p.Thr1037=) c.3069C>T (p.Thr1023=) c.3033C>T (p.Thr1011=) | COSMIC COSMIC |
19 | g.7125469G>C | CA505400275 | INSR | c.3072C>G (p.Thr1024=) c.3036C>G (p.Thr1012=) c.3147C>G (p.Thr1049=) c.3111C>G (p.Thr1037=) c.3069C>G (p.Thr1023=) c.3033C>G (p.Thr1011=) | |
19 | g.7125469G= | CA2320767977 | INSR | c.3072C= (p.Thr1024=) c.3036C= (p.Thr1012=) c.3147C= (p.Thr1049=) c.3111C= (p.Thr1037=) c.3069C= (p.Thr1023=) c.3033C= (p.Thr1011=) | |
19 | g.7125469G>T | CA9135365 | INSR | c.3072C>A (p.Thr1024=) c.3036C>A (p.Thr1012=) c.3147C>A (p.Thr1049=) c.3111C>A (p.Thr1037=) c.3069C>A (p.Thr1023=) c.3033C>A (p.Thr1011=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7125469_7125470insTCA | CA9135364 | INSR | c.3071_3072insTGA (p.Thr1024_Leu1025insAsp) c.3035_3036insTGA (p.Thr1012_Leu1013insAsp) c.3146_3147insTGA (p.Thr1049_Leu1050insAsp) c.3110_3111insTGA (p.Thr1037_Leu1038insAsp) c.3068_3069insTGA (p.Thr1023_Leu1024insAsp) c.3032_3033insTGA (p.Thr1011_Leu1012insAsp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7125470G>A | CA9135366 | INSR | c.3071C>T (p.Thr1024Ile) c.3035C>T (p.Thr1012Ile) c.3146C>T (p.Thr1049Ile) c.3110C>T (p.Thr1037Ile) c.3068C>T (p.Thr1023Ile) c.3032C>T (p.Thr1011Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7125470G>C | CA9135367 | INSR | c.3071C>G (p.Thr1024Ser) c.3035C>G (p.Thr1012Ser) c.3146C>G (p.Thr1049Ser) c.3110C>G (p.Thr1037Ser) c.3068C>G (p.Thr1023Ser) c.3032C>G (p.Thr1011Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7125470G= | CA2320767978 | INSR | c.3071C= (p.Thr1024=) c.3035C= (p.Thr1012=) c.3146C= (p.Thr1049=) c.3110C= (p.Thr1037=) c.3068C= (p.Thr1023=) c.3032C= (p.Thr1011=) | |
19 | g.7125470G>T | CA403671365 | INSR | c.3071C>A (p.Thr1024Asn) c.3035C>A (p.Thr1012Asn) c.3146C>A (p.Thr1049Asn) c.3110C>A (p.Thr1037Asn) c.3068C>A (p.Thr1023Asn) c.3032C>A (p.Thr1011Asn) | |
19 | g.7125471T>A | CA403671366 | INSR | c.3070A>T (p.Thr1024Ser) c.3034A>T (p.Thr1012Ser) c.3145A>T (p.Thr1049Ser) c.3109A>T (p.Thr1037Ser) c.3067A>T (p.Thr1023Ser) c.3031A>T (p.Thr1011Ser) | |
19 | g.7125471T>C | CA403671367 | INSR | c.3070A>G (p.Thr1024Ala) c.3034A>G (p.Thr1012Ala) c.3145A>G (p.Thr1049Ala) c.3109A>G (p.Thr1037Ala) c.3067A>G (p.Thr1023Ala) c.3031A>G (p.Thr1011Ala) | gnomAD v4 |
19 | g.7125471T>G | CA403671368 | INSR | c.3070A>C (p.Thr1024Pro) c.3034A>C (p.Thr1012Pro) c.3145A>C (p.Thr1049Pro) c.3109A>C (p.Thr1037Pro) c.3067A>C (p.Thr1023Pro) c.3031A>C (p.Thr1011Pro) | |
19 | g.7125472G>A | CA505400276 | INSR | c.3069C>T (p.Ile1023=) c.3033C>T (p.Ile1011=) c.3144C>T (p.Ile1048=) c.3108C>T (p.Ile1036=) c.3066C>T (p.Ile1022=) c.3030C>T (p.Ile1010=) | |
19 | g.7125472G>C | CA403671369 | INSR | c.3069C>G (p.Ile1023Met) c.3033C>G (p.Ile1011Met) c.3144C>G (p.Ile1048Met) c.3108C>G (p.Ile1036Met) c.3066C>G (p.Ile1022Met) c.3030C>G (p.Ile1010Met) | |
19 | g.7125472G>T | CA505400277 | INSR | c.3069C>A (p.Ile1023=) c.3033C>A (p.Ile1011=) c.3144C>A (p.Ile1048=) c.3108C>A (p.Ile1036=) c.3066C>A (p.Ile1022=) c.3030C>A (p.Ile1010=) | |
19 | g.7125473A>C | CA403671370 | INSR | c.3068T>G (p.Ile1023Ser) c.3032T>G (p.Ile1011Ser) c.3143T>G (p.Ile1048Ser) c.3107T>G (p.Ile1036Ser) c.3065T>G (p.Ile1022Ser) c.3029T>G (p.Ile1010Ser) | |
19 | g.7125473A>G | CA403671372 | INSR | c.3068T>C (p.Ile1023Thr) c.3032T>C (p.Ile1011Thr) c.3143T>C (p.Ile1048Thr) c.3107T>C (p.Ile1036Thr) c.3065T>C (p.Ile1022Thr) c.3029T>C (p.Ile1010Thr) | |
19 | g.7125473A>T | CA403671371 | INSR | c.3068T>A (p.Ile1023Asn) c.3032T>A (p.Ile1011Asn) c.3143T>A (p.Ile1048Asn) c.3107T>A (p.Ile1036Asn) c.3065T>A (p.Ile1022Asn) c.3029T>A (p.Ile1010Asn) | |
19 | g.7125474T>A | CA403671373 | INSR | c.3067A>T (p.Ile1023Phe) c.3031A>T (p.Ile1011Phe) c.3142A>T (p.Ile1048Phe) c.3106A>T (p.Ile1036Phe) c.3064A>T (p.Ile1022Phe) c.3028A>T (p.Ile1010Phe) | |
19 | g.7125474T>C | CA403671375 | INSR | c.3067A>G (p.Ile1023Val) c.3031A>G (p.Ile1011Val) c.3142A>G (p.Ile1048Val) c.3106A>G (p.Ile1036Val) c.3064A>G (p.Ile1022Val) c.3028A>G (p.Ile1010Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.7125474T>G | CA403671374 | INSR | c.3067A>C (p.Ile1023Leu) c.3031A>C (p.Ile1011Leu) c.3142A>C (p.Ile1048Leu) c.3106A>C (p.Ile1036Leu) c.3064A>C (p.Ile1022Leu) c.3028A>C (p.Ile1010Leu) | |
19 | g.7125474T= | CA2320767979 | INSR | c.3067A= (p.Ile1023=) c.3031A= (p.Ile1011=) c.3142A= (p.Ile1048=) c.3106A= (p.Ile1036=) c.3064A= (p.Ile1022=) c.3028A= (p.Ile1010=) | |
19 | g.7125475C>A | CA403671376 | INSR | c.3066G>T (p.Lys1022Asn) c.3030G>T (p.Lys1010Asn) c.3141G>T (p.Lys1047Asn) c.3105G>T (p.Lys1035Asn) c.3063G>T (p.Lys1021Asn) c.3027G>T (p.Lys1009Asn) | |
19 | g.7125475C>G | CA403671377 | INSR | c.3066G>C (p.Lys1022Asn) c.3030G>C (p.Lys1010Asn) c.3141G>C (p.Lys1047Asn) c.3105G>C (p.Lys1035Asn) c.3063G>C (p.Lys1021Asn) c.3027G>C (p.Lys1009Asn) | |
19 | g.7125475C>T | CA505400278 | INSR | c.3066G>A (p.Lys1022=) c.3030G>A (p.Lys1010=) c.3141G>A (p.Lys1047=) c.3105G>A (p.Lys1035=) c.3063G>A (p.Lys1021=) c.3027G>A (p.Lys1009=) | |
19 | g.7125476T>A | CA403671378 | INSR | c.3065A>T (p.Lys1022Met) c.3029A>T (p.Lys1010Met) c.3140A>T (p.Lys1047Met) c.3104A>T (p.Lys1035Met) c.3062A>T (p.Lys1021Met) c.3026A>T (p.Lys1009Met) | |
19 | g.7125476T>C | CA403671379 | INSR | c.3065A>G (p.Lys1022Arg) c.3029A>G (p.Lys1010Arg) c.3140A>G (p.Lys1047Arg) c.3104A>G (p.Lys1035Arg) c.3062A>G (p.Lys1021Arg) c.3026A>G (p.Lys1009Arg) | |
19 | g.7125476T>G | CA403671380 | INSR | c.3065A>C (p.Lys1022Thr) c.3029A>C (p.Lys1010Thr) c.3140A>C (p.Lys1047Thr) c.3104A>C (p.Lys1035Thr) c.3062A>C (p.Lys1021Thr) c.3026A>C (p.Lys1009Thr) | |
19 | g.7125477T>A | CA403671381 | INSR | c.3064A>T (p.Lys1022Ter) c.3028A>T (p.Lys1010Ter) c.3139A>T (p.Lys1047Ter) c.3103A>T (p.Lys1035Ter) c.3061A>T (p.Lys1021Ter) c.3025A>T (p.Lys1009Ter) | |
19 | g.7125477T>C | CA403671382 | INSR | c.3064A>G (p.Lys1022Glu) c.3028A>G (p.Lys1010Glu) c.3139A>G (p.Lys1047Glu) c.3103A>G (p.Lys1035Glu) c.3061A>G (p.Lys1021Glu) c.3025A>G (p.Lys1009Glu) | |
19 | g.7125477T>G | CA403671383 | INSR | c.3064A>C (p.Lys1022Gln) c.3028A>C (p.Lys1010Gln) c.3139A>C (p.Lys1047Gln) c.3103A>C (p.Lys1035Gln) c.3061A>C (p.Lys1021Gln) c.3025A>C (p.Lys1009Gln) | |
19 | g.7125478C>A | CA403671385 | INSR | c.3063G>T (p.Glu1021Asp) c.3027G>T (p.Glu1009Asp) c.3138G>T (p.Glu1046Asp) c.3102G>T (p.Glu1034Asp) c.3060G>T (p.Glu1020Asp) c.3024G>T (p.Glu1008Asp) | |
19 | g.7125478C>G | CA403671384 | INSR | c.3063G>C (p.Glu1021Asp) c.3027G>C (p.Glu1009Asp) c.3138G>C (p.Glu1046Asp) c.3102G>C (p.Glu1034Asp) c.3060G>C (p.Glu1020Asp) c.3024G>C (p.Glu1008Asp) | |
19 | g.7125478C>T | CA505400279 | INSR | c.3063G>A (p.Glu1021=) c.3027G>A (p.Glu1009=) c.3138G>A (p.Glu1046=) c.3102G>A (p.Glu1034=) c.3060G>A (p.Glu1020=) c.3024G>A (p.Glu1008=) | |
19 | g.7125479T>A | CA403671386 | INSR | c.3062A>T (p.Glu1021Val) c.3026A>T (p.Glu1009Val) c.3137A>T (p.Glu1046Val) c.3101A>T (p.Glu1034Val) c.3059A>T (p.Glu1020Val) c.3023A>T (p.Glu1008Val) | |
19 | g.7125479T>C | CA403671387 | INSR | c.3062A>G (p.Glu1021Gly) c.3026A>G (p.Glu1009Gly) c.3137A>G (p.Glu1046Gly) c.3101A>G (p.Glu1034Gly) c.3059A>G (p.Glu1020Gly) c.3023A>G (p.Glu1008Gly) | |
19 | g.7125479T>G | CA403671388 | INSR | c.3062A>C (p.Glu1021Ala) c.3026A>C (p.Glu1009Ala) c.3137A>C (p.Glu1046Ala) c.3101A>C (p.Glu1034Ala) c.3059A>C (p.Glu1020Ala) c.3023A>C (p.Glu1008Ala) | |
19 | g.7125480C>A | CA403671389 | INSR | c.3061G>T (p.Glu1021Ter) c.3025G>T (p.Glu1009Ter) c.3136G>T (p.Glu1046Ter) c.3100G>T (p.Glu1034Ter) c.3058G>T (p.Glu1020Ter) c.3022G>T (p.Glu1008Ter) | |
19 | g.7125480C= | CA2320767980 | INSR | c.3061G= (p.Glu1021=) c.3025G= (p.Glu1009=) c.3136G= (p.Glu1046=) c.3100G= (p.Glu1034=) c.3058G= (p.Glu1020=) c.3022G= (p.Glu1008=) | |
19 | g.7125480C>G | CA9135368 | INSR | c.3061G>C (p.Glu1021Gln) c.3025G>C (p.Glu1009Gln) c.3136G>C (p.Glu1046Gln) c.3100G>C (p.Glu1034Gln) c.3058G>C (p.Glu1020Gln) c.3022G>C (p.Glu1008Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7125480C>T | CA403671390 | INSR | c.3061G>A (p.Glu1021Lys) c.3025G>A (p.Glu1009Lys) c.3136G>A (p.Glu1046Lys) c.3100G>A (p.Glu1034Lys) c.3058G>A (p.Glu1020Lys) c.3022G>A (p.Glu1008Lys) | |
19 | g.7125481T>A | CA505400280 | INSR | c.3060A>T (p.Arg1020=) c.3024A>T (p.Arg1008=) c.3135A>T (p.Arg1045=) c.3099A>T (p.Arg1033=) c.3057A>T (p.Arg1019=) c.3021A>T (p.Arg1007=) | |
19 | g.7125481T>C | CA505400281 | INSR | c.3060A>G (p.Arg1020=) c.3024A>G (p.Arg1008=) c.3135A>G (p.Arg1045=) c.3099A>G (p.Arg1033=) c.3057A>G (p.Arg1019=) c.3021A>G (p.Arg1007=) | dbSNP gnomAD v4 |
19 | g.7125481T>G | CA505400282 | INSR | c.3060A>C (p.Arg1020=) c.3024A>C (p.Arg1008=) c.3135A>C (p.Arg1045=) c.3099A>C (p.Arg1033=) c.3057A>C (p.Arg1019=) c.3021A>C (p.Arg1007=) | |
19 | g.7125481T= | CA2320767981 | INSR | c.3060A= (p.Arg1020=) c.3024A= (p.Arg1008=) c.3135A= (p.Arg1045=) c.3099A= (p.Arg1033=) c.3057A= (p.Arg1019=) c.3021A= (p.Arg1007=) | |
19 | g.7125481dup | CA631723596 | INSR | c.3060dup (p.Glu1021ArgfsTer19) c.3024dup (p.Glu1009ArgfsTer19) c.3135dup (p.Glu1046ArgfsTer19) c.3099dup (p.Glu1034ArgfsTer19) c.3057dup (p.Glu1020ArgfsTer19) c.3021dup (p.Glu1008ArgfsTer19) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7125482C>A | CA403671392 | INSR | c.3059G>T (p.Arg1020Leu) c.3023G>T (p.Arg1008Leu) c.3134G>T (p.Arg1045Leu) c.3098G>T (p.Arg1033Leu) c.3056G>T (p.Arg1019Leu) c.3020G>T (p.Arg1007Leu) | |
19 | g.7125482C= | CA2320767982 | INSR | c.3059G= (p.Arg1020=) c.3023G= (p.Arg1008=) c.3134G= (p.Arg1045=) c.3098G= (p.Arg1033=) c.3056G= (p.Arg1019=) c.3020G= (p.Arg1007=) | |
19 | g.7125482C>G | CA403671391 | INSR | c.3059G>C (p.Arg1020Pro) c.3023G>C (p.Arg1008Pro) c.3134G>C (p.Arg1045Pro) c.3098G>C (p.Arg1033Pro) c.3056G>C (p.Arg1019Pro) c.3020G>C (p.Arg1007Pro) | |
19 | g.7125482C>T | CA124245 | INSR | c.3059G>A (p.Arg1020Gln) c.3023G>A (p.Arg1008Gln) c.3134G>A (p.Arg1045Gln) c.3098G>A (p.Arg1033Gln) c.3056G>A (p.Arg1019Gln) c.3020G>A (p.Arg1007Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.7125483G>A | CA403671393 | INSR | c.3058C>T (p.Arg1020Ter) c.3022C>T (p.Arg1008Ter) c.3133C>T (p.Arg1045Ter) c.3097C>T (p.Arg1033Ter) c.3055C>T (p.Arg1019Ter) c.3019C>T (p.Arg1007Ter) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7125483G>C | CA403671394 | INSR | c.3058C>G (p.Arg1020Gly) c.3022C>G (p.Arg1008Gly) c.3133C>G (p.Arg1045Gly) c.3097C>G (p.Arg1033Gly) c.3055C>G (p.Arg1019Gly) c.3019C>G (p.Arg1007Gly) | |
19 | g.7125483G= | CA2320767983 | INSR | c.3058C= (p.Arg1020=) c.3022C= (p.Arg1008=) c.3133C= (p.Arg1045=) c.3097C= (p.Arg1033=) c.3055C= (p.Arg1019=) c.3019C= (p.Arg1007=) | |
19 | g.7125483G>T | CA505400283 | INSR | c.3058C>A (p.Arg1020=) c.3022C>A (p.Arg1008=) c.3133C>A (p.Arg1045=) c.3097C>A (p.Arg1033=) c.3055C>A (p.Arg1019=) c.3019C>A (p.Arg1007=) | |
19 | g.7125484A>C | CA505400284 | INSR | c.3057T>G (p.Ser1019=) c.3021T>G (p.Ser1007=) c.3132T>G (p.Ser1044=) c.3096T>G (p.Ser1032=) c.3054T>G (p.Ser1018=) c.3018T>G (p.Ser1006=) | |
19 | g.7125484A>G | CA505400285 | INSR | c.3057T>C (p.Ser1019=) c.3021T>C (p.Ser1007=) c.3132T>C (p.Ser1044=) c.3096T>C (p.Ser1032=) c.3054T>C (p.Ser1018=) c.3018T>C (p.Ser1006=) | |
19 | g.7125484A>T | CA505400286 | INSR | c.3057T>A (p.Ser1019=) c.3021T>A (p.Ser1007=) c.3132T>A (p.Ser1044=) c.3096T>A (p.Ser1032=) c.3054T>A (p.Ser1018=) c.3018T>A (p.Ser1006=) | |
19 | g.7125485G>A | CA403671395 | INSR | c.3056C>T (p.Ser1019Phe) c.3020C>T (p.Ser1007Phe) c.3131C>T (p.Ser1044Phe) c.3095C>T (p.Ser1032Phe) c.3053C>T (p.Ser1018Phe) c.3017C>T (p.Ser1006Phe) | |
19 | g.7125485G>C | CA403671396 | INSR | c.3056C>G (p.Ser1019Cys) c.3020C>G (p.Ser1007Cys) c.3131C>G (p.Ser1044Cys) c.3095C>G (p.Ser1032Cys) c.3053C>G (p.Ser1018Cys) c.3017C>G (p.Ser1006Cys) | |
19 | g.7125485G>T | CA403671397 | INSR | c.3056C>A (p.Ser1019Tyr) c.3020C>A (p.Ser1007Tyr) c.3131C>A (p.Ser1044Tyr) c.3095C>A (p.Ser1032Tyr) c.3053C>A (p.Ser1018Tyr) c.3017C>A (p.Ser1006Tyr) | |
19 | g.7125486A= | CA2320767984 | INSR | c.3055T= (p.Ser1019=) c.3019T= (p.Ser1007=) c.3130T= (p.Ser1044=) c.3094T= (p.Ser1032=) c.3052T= (p.Ser1018=) c.3016T= (p.Ser1006=) | |
19 | g.7125486A>C | CA403671398 | INSR | c.3055T>G (p.Ser1019Ala) c.3019T>G (p.Ser1007Ala) c.3130T>G (p.Ser1044Ala) c.3094T>G (p.Ser1032Ala) c.3052T>G (p.Ser1018Ala) c.3016T>G (p.Ser1006Ala) | |
19 | g.7125486A>G | CA304873491 | INSR | c.3055T>C (p.Ser1019Pro) c.3019T>C (p.Ser1007Pro) c.3130T>C (p.Ser1044Pro) c.3094T>C (p.Ser1032Pro) c.3052T>C (p.Ser1018Pro) c.3016T>C (p.Ser1006Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7125486A>T | CA304873495 | INSR | c.3055T>A (p.Ser1019Thr) c.3019T>A (p.Ser1007Thr) c.3130T>A (p.Ser1044Thr) c.3094T>A (p.Ser1032Thr) c.3052T>A (p.Ser1018Thr) c.3016T>A (p.Ser1006Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7125487C>A | CA505400287 | INSR | c.3054G>T (p.Val1018=) c.3018G>T (p.Val1006=) c.3129G>T (p.Val1043=) c.3093G>T (p.Val1031=) c.3051G>T (p.Val1017=) c.3015G>T (p.Val1005=) | |
19 | g.7125487C= | CA2320767985 | INSR | c.3054G= (p.Val1018=) c.3018G= (p.Val1006=) c.3129G= (p.Val1043=) c.3093G= (p.Val1031=) c.3051G= (p.Val1017=) c.3015G= (p.Val1005=) | |
19 | g.7125487C>G | CA505400288 | INSR | c.3054G>C (p.Val1018=) c.3018G>C (p.Val1006=) c.3129G>C (p.Val1043=) c.3093G>C (p.Val1031=) c.3051G>C (p.Val1017=) c.3015G>C (p.Val1005=) | |
19 | g.7125487C>T | CA10643423 | INSR | c.3054G>A (p.Val1018=) c.3018G>A (p.Val1006=) c.3129G>A (p.Val1043=) c.3093G>A (p.Val1031=) c.3051G>A (p.Val1017=) c.3015G>A (p.Val1005=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.7125488A>C | CA403671399 | INSR | c.3053T>G (p.Val1018Gly) c.3017T>G (p.Val1006Gly) c.3128T>G (p.Val1043Gly) c.3092T>G (p.Val1031Gly) c.3050T>G (p.Val1017Gly) c.3014T>G (p.Val1005Gly) | |
19 | g.7125488A>G | CA403671400 | INSR | c.3053T>C (p.Val1018Ala) c.3017T>C (p.Val1006Ala) c.3128T>C (p.Val1043Ala) c.3092T>C (p.Val1031Ala) c.3050T>C (p.Val1017Ala) c.3014T>C (p.Val1005Ala) | |
19 | g.7125488A>T | CA403671401 | INSR | c.3053T>A (p.Val1018Glu) c.3017T>A (p.Val1006Glu) c.3128T>A (p.Val1043Glu) c.3092T>A (p.Val1031Glu) c.3050T>A (p.Val1017Glu) c.3014T>A (p.Val1005Glu) | |
19 | g.7125489C>A | CA403671402 | INSR | c.3052G>T (p.Val1018Leu) c.3016G>T (p.Val1006Leu) c.3127G>T (p.Val1043Leu) c.3091G>T (p.Val1031Leu) c.3049G>T (p.Val1017Leu) c.3013G>T (p.Val1005Leu) | ClinVar dbSNP |
19 | g.7125489C>G | CA403671404 | INSR | c.3052G>C (p.Val1018Leu) c.3016G>C (p.Val1006Leu) c.3127G>C (p.Val1043Leu) c.3091G>C (p.Val1031Leu) c.3049G>C (p.Val1017Leu) c.3013G>C (p.Val1005Leu) | |
19 | g.7125489C>T | CA403671403 | INSR | c.3052G>A (p.Val1018Met) c.3016G>A (p.Val1006Met) c.3127G>A (p.Val1043Met) c.3091G>A (p.Val1031Met) c.3049G>A (p.Val1017Met) c.3013G>A (p.Val1005Met) | gnomAD v4 |
19 | g.7125490C>A | CA403671405 | INSR | c.3051G>T (p.Glu1017Asp) c.3015G>T (p.Glu1005Asp) c.3126G>T (p.Glu1042Asp) c.3090G>T (p.Glu1030Asp) c.3048G>T (p.Glu1016Asp) c.3012G>T (p.Glu1004Asp) | |
19 | g.7125490C= | CA2320767986 | INSR | c.3051G= (p.Glu1017=) c.3015G= (p.Glu1005=) c.3126G= (p.Glu1042=) c.3090G= (p.Glu1030=) c.3048G= (p.Glu1016=) c.3012G= (p.Glu1004=) | |
19 | g.7125490C>G | CA403671406 | INSR | c.3051G>C (p.Glu1017Asp) c.3015G>C (p.Glu1005Asp) c.3126G>C (p.Glu1042Asp) c.3090G>C (p.Glu1030Asp) c.3048G>C (p.Glu1016Asp) c.3012G>C (p.Glu1004Asp) | gnomAD v4 |
19 | g.7125490C>T | CA505400289 | INSR | c.3051G>A (p.Glu1017=) c.3015G>A (p.Glu1005=) c.3126G>A (p.Glu1042=) c.3090G>A (p.Glu1030=) c.3048G>A (p.Glu1016=) c.3012G>A (p.Glu1004=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7125491T>A | CA403671407 | INSR | c.3050A>T (p.Glu1017Val) c.3014A>T (p.Glu1005Val) c.3125A>T (p.Glu1042Val) c.3089A>T (p.Glu1030Val) c.3047A>T (p.Glu1016Val) c.3011A>T (p.Glu1004Val) | |
19 | g.7125491T>C | CA403671408 | INSR | c.3050A>G (p.Glu1017Gly) c.3014A>G (p.Glu1005Gly) c.3125A>G (p.Glu1042Gly) c.3089A>G (p.Glu1030Gly) c.3047A>G (p.Glu1016Gly) c.3011A>G (p.Glu1004Gly) | |
19 | g.7125491T>G | CA403671409 | INSR | c.3050A>C (p.Glu1017Ala) c.3014A>C (p.Glu1005Ala) c.3125A>C (p.Glu1042Ala) c.3089A>C (p.Glu1030Ala) c.3047A>C (p.Glu1016Ala) c.3011A>C (p.Glu1004Ala) | |
19 | g.7125492C>A | CA403671410 | INSR | c.3049G>T (p.Glu1017Ter) c.3013G>T (p.Glu1005Ter) c.3124G>T (p.Glu1042Ter) c.3088G>T (p.Glu1030Ter) c.3046G>T (p.Glu1016Ter) c.3010G>T (p.Glu1004Ter) | |
19 | g.7125492C>G | CA403671411 | INSR | c.3049G>C (p.Glu1017Gln) c.3013G>C (p.Glu1005Gln) c.3124G>C (p.Glu1042Gln) c.3088G>C (p.Glu1030Gln) c.3046G>C (p.Glu1016Gln) c.3010G>C (p.Glu1004Gln) | |
19 | g.7125492C>T | CA403671412 | INSR | c.3049G>A (p.Glu1017Lys) c.3013G>A (p.Glu1005Lys) c.3124G>A (p.Glu1042Lys) c.3088G>A (p.Glu1030Lys) c.3046G>A (p.Glu1016Lys) c.3010G>A (p.Glu1004Lys) | |
19 | g.7125493C>A | CA403671413 | INSR | c.3048G>T (p.Trp1016Cys) c.3012G>T (p.Trp1004Cys) c.3123G>T (p.Trp1041Cys) c.3087G>T (p.Trp1029Cys) c.3045G>T (p.Trp1015Cys) c.3009G>T (p.Trp1003Cys) | |
19 | g.7125493C>G | CA403671414 | INSR | c.3048G>C (p.Trp1016Cys) c.3012G>C (p.Trp1004Cys) c.3123G>C (p.Trp1041Cys) c.3087G>C (p.Trp1029Cys) c.3045G>C (p.Trp1015Cys) c.3009G>C (p.Trp1003Cys) | |
19 | g.7125493C>T | CA403671415 | INSR | c.3048G>A (p.Trp1016Ter) c.3012G>A (p.Trp1004Ter) c.3123G>A (p.Trp1041Ter) c.3087G>A (p.Trp1029Ter) c.3045G>A (p.Trp1015Ter) c.3009G>A (p.Trp1003Ter) | |
19 | g.7125494C>A | CA403671418 | INSR | c.3047G>T (p.Trp1016Leu) c.3011G>T (p.Trp1004Leu) c.3122G>T (p.Trp1041Leu) c.3086G>T (p.Trp1029Leu) c.3044G>T (p.Trp1015Leu) c.3008G>T (p.Trp1003Leu) | |
19 | g.7125494C>G | CA403671417 | INSR | c.3047G>C (p.Trp1016Ser) c.3011G>C (p.Trp1004Ser) c.3122G>C (p.Trp1041Ser) c.3086G>C (p.Trp1029Ser) c.3044G>C (p.Trp1015Ser) c.3008G>C (p.Trp1003Ser) | |
19 | g.7125494C>T | CA403671416 | INSR | c.3047G>A (p.Trp1016Ter) c.3011G>A (p.Trp1004Ter) c.3122G>A (p.Trp1041Ter) c.3086G>A (p.Trp1029Ter) c.3044G>A (p.Trp1015Ter) c.3008G>A (p.Trp1003Ter) | |
19 | g.7125495A>C | CA403671419 | INSR | c.3046T>G (p.Trp1016Gly) c.3010T>G (p.Trp1004Gly) c.3121T>G (p.Trp1041Gly) c.3085T>G (p.Trp1029Gly) c.3043T>G (p.Trp1015Gly) c.3007T>G (p.Trp1003Gly) | |
19 | g.7125495A>G | CA403671420 | INSR | c.3046T>C (p.Trp1016Arg) c.3010T>C (p.Trp1004Arg) c.3121T>C (p.Trp1041Arg) c.3085T>C (p.Trp1029Arg) c.3043T>C (p.Trp1015Arg) c.3007T>C (p.Trp1003Arg) | |
19 | g.7125495A>T | CA403671421 | INSR | c.3046T>A (p.Trp1016Arg) c.3010T>A (p.Trp1004Arg) c.3121T>A (p.Trp1041Arg) c.3085T>A (p.Trp1029Arg) c.3043T>A (p.Trp1015Arg) c.3007T>A (p.Trp1003Arg) | |
19 | g.7125496C>A | CA403671422 | INSR | c.3045G>T (p.Glu1015Asp) c.3009G>T (p.Glu1003Asp) c.3120G>T (p.Glu1040Asp) c.3084G>T (p.Glu1028Asp) c.3042G>T (p.Glu1014Asp) c.3006G>T (p.Glu1002Asp) | |
19 | g.7125496C= | CA2320767987 | INSR | c.3045G= (p.Glu1015=) c.3009G= (p.Glu1003=) c.3120G= (p.Glu1040=) c.3084G= (p.Glu1028=) c.3042G= (p.Glu1014=) c.3006G= (p.Glu1002=) | |
19 | g.7125496C>G | CA403671423 | INSR | c.3045G>C (p.Glu1015Asp) c.3009G>C (p.Glu1003Asp) c.3120G>C (p.Glu1040Asp) c.3084G>C (p.Glu1028Asp) c.3042G>C (p.Glu1014Asp) c.3006G>C (p.Glu1002Asp) | dbSNP |
19 | g.7125496C>T | CA505400290 | INSR | c.3045G>A (p.Glu1015=) c.3009G>A (p.Glu1003=) c.3120G>A (p.Glu1040=) c.3084G>A (p.Glu1028=) c.3042G>A (p.Glu1014=) c.3006G>A (p.Glu1002=) | |
19 | g.7125497T>A | CA403671424 | INSR | c.3044A>T (p.Glu1015Val) c.3008A>T (p.Glu1003Val) c.3119A>T (p.Glu1040Val) c.3083A>T (p.Glu1028Val) c.3041A>T (p.Glu1014Val) c.3005A>T (p.Glu1002Val) | |
19 | g.7125497T>C | CA403671425 | INSR | c.3044A>G (p.Glu1015Gly) c.3008A>G (p.Glu1003Gly) c.3119A>G (p.Glu1040Gly) c.3083A>G (p.Glu1028Gly) c.3041A>G (p.Glu1014Gly) c.3005A>G (p.Glu1002Gly) | |
19 | g.7125497T>G | CA403671426 | INSR | c.3044A>C (p.Glu1015Ala) c.3008A>C (p.Glu1003Ala) c.3119A>C (p.Glu1040Ala) c.3083A>C (p.Glu1028Ala) c.3041A>C (p.Glu1014Ala) c.3005A>C (p.Glu1002Ala) | dbSNP |
19 | g.7125497T= | CA2320767988 | INSR | c.3044A= (p.Glu1015=) c.3008A= (p.Glu1003=) c.3119A= (p.Glu1040=) c.3083A= (p.Glu1028=) c.3041A= (p.Glu1014=) c.3005A= (p.Glu1002=) | |
19 | g.7125498C>A | CA403671427 | INSR | c.3043G>T (p.Glu1015Ter) c.3007G>T (p.Glu1003Ter) c.3118G>T (p.Glu1040Ter) c.3082G>T (p.Glu1028Ter) c.3040G>T (p.Glu1014Ter) c.3004G>T (p.Glu1002Ter) | |
19 | g.7125498C= | CA2320767989 | INSR | c.3043G= (p.Glu1015=) c.3007G= (p.Glu1003=) c.3118G= (p.Glu1040=) c.3082G= (p.Glu1028=) c.3040G= (p.Glu1014=) c.3004G= (p.Glu1002=) | |
19 | g.7125498C>G | CA403671428 | INSR | c.3043G>C (p.Glu1015Gln) c.3007G>C (p.Glu1003Gln) c.3118G>C (p.Glu1040Gln) c.3082G>C (p.Glu1028Gln) c.3040G>C (p.Glu1014Gln) c.3004G>C (p.Glu1002Gln) | |
19 | g.7125498C>T | CA9135369 | INSR | c.3043G>A (p.Glu1015Lys) c.3007G>A (p.Glu1003Lys) c.3118G>A (p.Glu1040Lys) c.3082G>A (p.Glu1028Lys) c.3040G>A (p.Glu1014Lys) c.3004G>A (p.Glu1002Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7125501_7125509del | CA2587922099 | INSR | c.3035_3043del (p.Val1012_Asp1014del) c.2999_3007del (p.Val1000_Asp1002del) c.3110_3118del (p.Val1037_Asp1039del) c.3074_3082del (p.Val1025_Asp1027del) c.3032_3040del (p.Val1011_Asp1013del) c.2996_3004del (p.Val999_Asp1001del) | gnomAD v4 |
19 | g.7125499G>A | CA9135370 | INSR | c.3042C>T (p.Asp1014=) c.3006C>T (p.Asp1002=) c.3117C>T (p.Asp1039=) c.3081C>T (p.Asp1027=) c.3039C>T (p.Asp1013=) c.3003C>T (p.Asp1001=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.7125499G>C | CA403671430 | INSR | c.3042C>G (p.Asp1014Glu) c.3006C>G (p.Asp1002Glu) c.3117C>G (p.Asp1039Glu) c.3081C>G (p.Asp1027Glu) c.3039C>G (p.Asp1013Glu) c.3003C>G (p.Asp1001Glu) | |
19 | g.7125499G= | CA2320767990 | INSR | c.3042C= (p.Asp1014=) c.3006C= (p.Asp1002=) c.3117C= (p.Asp1039=) c.3081C= (p.Asp1027=) c.3039C= (p.Asp1013=) c.3003C= (p.Asp1001=) | |
19 | g.7125499G>T | CA403671429 | INSR | c.3042C>A (p.Asp1014Glu) c.3006C>A (p.Asp1002Glu) c.3117C>A (p.Asp1039Glu) c.3081C>A (p.Asp1027Glu) c.3039C>A (p.Asp1013Glu) c.3003C>A (p.Asp1001Glu) | |
19 | g.7125500T>A | CA403671431 | INSR | c.3041A>T (p.Asp1014Val) c.3005A>T (p.Asp1002Val) c.3116A>T (p.Asp1039Val) c.3080A>T (p.Asp1027Val) c.3038A>T (p.Asp1013Val) c.3002A>T (p.Asp1001Val) | |
19 | g.7125500T>C | CA403671432 | INSR | c.3041A>G (p.Asp1014Gly) c.3005A>G (p.Asp1002Gly) c.3116A>G (p.Asp1039Gly) c.3080A>G (p.Asp1027Gly) c.3038A>G (p.Asp1013Gly) c.3002A>G (p.Asp1001Gly) | |
19 | g.7125500T>G | CA403671433 | INSR | c.3041A>C (p.Asp1014Ala) c.3005A>C (p.Asp1002Ala) c.3116A>C (p.Asp1039Ala) c.3080A>C (p.Asp1027Ala) c.3038A>C (p.Asp1013Ala) c.3002A>C (p.Asp1001Ala) | |
19 | g.7125501C>A | CA403671434 | INSR | c.3040G>T (p.Asp1014Tyr) c.3004G>T (p.Asp1002Tyr) c.3115G>T (p.Asp1039Tyr) c.3079G>T (p.Asp1027Tyr) c.3037G>T (p.Asp1013Tyr) c.3001G>T (p.Asp1001Tyr) | |
19 | g.7125501C>G | CA403671435 | INSR | c.3040G>C (p.Asp1014His) c.3004G>C (p.Asp1002His) c.3115G>C (p.Asp1039His) c.3079G>C (p.Asp1027His) c.3037G>C (p.Asp1013His) c.3001G>C (p.Asp1001His) | |
19 | g.7125501C>T | CA403671436 | INSR | c.3040G>A (p.Asp1014Asn) c.3004G>A (p.Asp1002Asn) c.3115G>A (p.Asp1039Asn) c.3079G>A (p.Asp1027Asn) c.3037G>A (p.Asp1013Asn) c.3001G>A (p.Asp1001Asn) | |
19 | g.7125502C>A | CA505400292 | INSR | c.3039G>T (p.Pro1013=) c.3003G>T (p.Pro1001=) c.3114G>T (p.Pro1038=) c.3078G>T (p.Pro1026=) c.3036G>T (p.Pro1012=) c.3000G>T (p.Pro1000=) | dbSNP gnomAD v4 |
19 | g.7125502C= | CA2320767991 | INSR | c.3039G= (p.Pro1013=) c.3003G= (p.Pro1001=) c.3114G= (p.Pro1038=) c.3078G= (p.Pro1026=) c.3036G= (p.Pro1012=) c.3000G= (p.Pro1000=) | |
19 | g.7125502C>G | CA9135371 | INSR | c.3039G>C (p.Pro1013=) c.3003G>C (p.Pro1001=) c.3114G>C (p.Pro1038=) c.3078G>C (p.Pro1026=) c.3036G>C (p.Pro1012=) c.3000G>C (p.Pro1000=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7125502C>T | CA505400291 | INSR | c.3039G>A (p.Pro1013=) c.3003G>A (p.Pro1001=) c.3114G>A (p.Pro1038=) c.3078G>A (p.Pro1026=) c.3036G>A (p.Pro1012=) c.3000G>A (p.Pro1000=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7125503G>A | CA403671437 | INSR | c.3038C>T (p.Pro1013Leu) c.3002C>T (p.Pro1001Leu) c.3113C>T (p.Pro1038Leu) c.3077C>T (p.Pro1026Leu) c.3035C>T (p.Pro1012Leu) c.2999C>T (p.Pro1000Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7125503G>C | CA403671439 | INSR | c.3038C>G (p.Pro1013Arg) c.3002C>G (p.Pro1001Arg) c.3113C>G (p.Pro1038Arg) c.3077C>G (p.Pro1026Arg) c.3035C>G (p.Pro1012Arg) c.2999C>G (p.Pro1000Arg) | |
19 | g.7125503G= | CA2320767992 | INSR | c.3038C= (p.Pro1013=) c.3002C= (p.Pro1001=) c.3113C= (p.Pro1038=) c.3077C= (p.Pro1026=) c.3035C= (p.Pro1012=) c.2999C= (p.Pro1000=) | |
19 | g.7125503G>T | CA403671438 | INSR | c.3038C>A (p.Pro1013Gln) c.3002C>A (p.Pro1001Gln) c.3113C>A (p.Pro1038Gln) c.3077C>A (p.Pro1026Gln) c.3035C>A (p.Pro1012Gln) c.2999C>A (p.Pro1000Gln) | |
19 | g.7125504G>A | CA403671440 | INSR | c.3037C>T (p.Pro1013Ser) c.3001C>T (p.Pro1001Ser) c.3112C>T (p.Pro1038Ser) c.3076C>T (p.Pro1026Ser) c.3034C>T (p.Pro1012Ser) c.2998C>T (p.Pro1000Ser) | |
19 | g.7125504G>C | CA403671441 | INSR | c.3037C>G (p.Pro1013Ala) c.3001C>G (p.Pro1001Ala) c.3112C>G (p.Pro1038Ala) c.3076C>G (p.Pro1026Ala) c.3034C>G (p.Pro1012Ala) c.2998C>G (p.Pro1000Ala) | |
19 | g.7125504G>T | CA403671442 | INSR | c.3037C>A (p.Pro1013Thr) c.3001C>A (p.Pro1001Thr) c.3112C>A (p.Pro1038Thr) c.3076C>A (p.Pro1026Thr) c.3034C>A (p.Pro1012Thr) c.2998C>A (p.Pro1000Thr) | |
19 | g.7125505C>A | CA505400293 | INSR | c.3036G>T (p.Val1012=) c.3000G>T (p.Val1000=) c.3111G>T (p.Val1037=) c.3075G>T (p.Val1025=) c.3033G>T (p.Val1011=) c.2997G>T (p.Val999=) | |
19 | g.7125505C= | CA2320767993 | INSR | c.3036G= (p.Val1012=) c.3000G= (p.Val1000=) c.3111G= (p.Val1037=) c.3075G= (p.Val1025=) c.3033G= (p.Val1011=) c.2997G= (p.Val999=) | |
19 | g.7125505C>G | CA505400294 | INSR | c.3036G>C (p.Val1012=) c.3000G>C (p.Val1000=) c.3111G>C (p.Val1037=) c.3075G>C (p.Val1025=) c.3033G>C (p.Val1011=) c.2997G>C (p.Val999=) | |
19 | g.7125505C>T | CA304873539 | INSR | c.3036G>A (p.Val1012=) c.3000G>A (p.Val1000=) c.3111G>A (p.Val1037=) c.3075G>A (p.Val1025=) c.3033G>A (p.Val1011=) c.2997G>A (p.Val999=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7125506A>C | CA403671445 | INSR | c.3035T>G (p.Val1012Gly) c.2999T>G (p.Val1000Gly) c.3110T>G (p.Val1037Gly) c.3074T>G (p.Val1025Gly) c.3032T>G (p.Val1011Gly) c.2996T>G (p.Val999Gly) | |
19 | g.7125506A>G | CA403671443 | INSR | c.3035T>C (p.Val1012Ala) c.2999T>C (p.Val1000Ala) c.3110T>C (p.Val1037Ala) c.3074T>C (p.Val1025Ala) c.3032T>C (p.Val1011Ala) c.2996T>C (p.Val999Ala) | |
19 | g.7125506A>T | CA403671444 | INSR | c.3035T>A (p.Val1012Glu) c.2999T>A (p.Val1000Glu) c.3110T>A (p.Val1037Glu) c.3074T>A (p.Val1025Glu) c.3032T>A (p.Val1011Glu) c.2996T>A (p.Val999Glu) | |
19 | g.7125507C>A | CA403671446 | INSR | c.3034G>T (p.Val1012Leu) c.2998G>T (p.Val1000Leu) c.3109G>T (p.Val1037Leu) c.3073G>T (p.Val1025Leu) c.3031G>T (p.Val1011Leu) c.2995G>T (p.Val999Leu) | COSMIC COSMIC |
19 | g.7125507C= | CA2320767994 | INSR | c.3034G= (p.Val1012=) c.2998G= (p.Val1000=) c.3109G= (p.Val1037=) c.3073G= (p.Val1025=) c.3031G= (p.Val1011=) c.2995G= (p.Val999=) | |
19 | g.7125507C>G | CA403671447 | INSR | c.3034G>C (p.Val1012Leu) c.2998G>C (p.Val1000Leu) c.3109G>C (p.Val1037Leu) c.3073G>C (p.Val1025Leu) c.3031G>C (p.Val1011Leu) c.2995G>C (p.Val999Leu) | |
19 | g.7125507C>T | CA124262 | INSR | c.3034G>A (p.Val1012Met) c.2998G>A (p.Val1000Met) c.3109G>A (p.Val1037Met) c.3073G>A (p.Val1025Met) c.3031G>A (p.Val1011Met) c.2995G>A (p.Val999Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7125508G>A | CA9135372 | INSR | c.3033C>T (p.Tyr1011=) c.2997C>T (p.Tyr999=) c.3108C>T (p.Tyr1036=) c.3072C>T (p.Tyr1024=) c.3030C>T (p.Tyr1010=) c.2994C>T (p.Tyr998=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7125508G>C | CA403671448 | INSR | c.3033C>G (p.Tyr1011Ter) c.2997C>G (p.Tyr999Ter) c.3108C>G (p.Tyr1036Ter) c.3072C>G (p.Tyr1024Ter) c.3030C>G (p.Tyr1010Ter) c.2994C>G (p.Tyr998Ter) | |
19 | g.7125508G= | CA2320767995 | INSR | c.3033C= (p.Tyr1011=) c.2997C= (p.Tyr999=) c.3108C= (p.Tyr1036=) c.3072C= (p.Tyr1024=) c.3030C= (p.Tyr1010=) c.2994C= (p.Tyr998=) | |
19 | g.7125508G>T | CA403671449 | INSR | c.3033C>A (p.Tyr1011Ter) c.2997C>A (p.Tyr999Ter) c.3108C>A (p.Tyr1036Ter) c.3072C>A (p.Tyr1024Ter) c.3030C>A (p.Tyr1010Ter) c.2994C>A (p.Tyr998Ter) | |
19 | g.7125509T>A | CA403671450 | INSR | c.3032A>T (p.Tyr1011Phe) c.2996A>T (p.Tyr999Phe) c.3107A>T (p.Tyr1036Phe) c.3071A>T (p.Tyr1024Phe) c.3029A>T (p.Tyr1010Phe) c.2993A>T (p.Tyr998Phe) | gnomAD v4 |
19 | g.7125509T>C | CA403671451 | INSR | c.3032A>G (p.Tyr1011Cys) c.2996A>G (p.Tyr999Cys) c.3107A>G (p.Tyr1036Cys) c.3071A>G (p.Tyr1024Cys) c.3029A>G (p.Tyr1010Cys) c.2993A>G (p.Tyr998Cys) | |
19 | g.7125509T>G | CA403671452 | INSR | c.3032A>C (p.Tyr1011Ser) c.2996A>C (p.Tyr999Ser) c.3107A>C (p.Tyr1036Ser) c.3071A>C (p.Tyr1024Ser) c.3029A>C (p.Tyr1010Ser) c.2993A>C (p.Tyr998Ser) | |
19 | g.7125510A>C | CA403671453 | INSR | c.3031T>G (p.Tyr1011Asp) c.2995T>G (p.Tyr999Asp) c.3106T>G (p.Tyr1036Asp) c.3070T>G (p.Tyr1024Asp) c.3028T>G (p.Tyr1010Asp) c.2992T>G (p.Tyr998Asp) | |
19 | g.7125510A>G | CA403671454 | INSR | c.3031T>C (p.Tyr1011His) c.2995T>C (p.Tyr999His) c.3106T>C (p.Tyr1036His) c.3070T>C (p.Tyr1024His) c.3028T>C (p.Tyr1010His) c.2992T>C (p.Tyr998His) | |
19 | g.7125510A>T | CA403671455 | INSR | c.3031T>A (p.Tyr1011Asn) c.2995T>A (p.Tyr999Asn) c.3106T>A (p.Tyr1036Asn) c.3070T>A (p.Tyr1024Asn) c.3028T>A (p.Tyr1010Asn) c.2992T>A (p.Tyr998Asn) | |
19 | g.7125511C>A | CA505400295 | INSR | c.3030G>T (p.Val1010=) c.2994G>T (p.Val998=) c.3105G>T (p.Val1035=) c.3069G>T (p.Val1023=) c.3027G>T (p.Val1009=) c.2991G>T (p.Val997=) | |
19 | g.7125511C>G | CA505400296 | INSR | c.3030G>C (p.Val1010=) c.2994G>C (p.Val998=) c.3105G>C (p.Val1035=) c.3069G>C (p.Val1023=) c.3027G>C (p.Val1009=) c.2991G>C (p.Val997=) | |
19 | g.7125511C>T | CA505400297 | INSR | c.3030G>A (p.Val1010=) c.2994G>A (p.Val998=) c.3105G>A (p.Val1035=) c.3069G>A (p.Val1023=) c.3027G>A (p.Val1009=) c.2991G>A (p.Val997=) | COSMIC COSMIC |
19 | g.7125512A>C | CA403671456 | INSR | c.3029T>G (p.Val1010Gly) c.2993T>G (p.Val998Gly) c.3104T>G (p.Val1035Gly) c.3068T>G (p.Val1023Gly) c.3026T>G (p.Val1009Gly) c.2990T>G (p.Val997Gly) | |
19 | g.7125512A>G | CA403671458 | INSR | c.3029T>C (p.Val1010Ala) c.2993T>C (p.Val998Ala) c.3104T>C (p.Val1035Ala) c.3068T>C (p.Val1023Ala) c.3026T>C (p.Val1009Ala) c.2990T>C (p.Val997Ala) | gnomAD v4 |
19 | g.7125512A>T | CA403671457 | INSR | c.3029T>A (p.Val1010Glu) c.2993T>A (p.Val998Glu) c.3104T>A (p.Val1035Glu) c.3068T>A (p.Val1023Glu) c.3026T>A (p.Val1009Glu) c.2990T>A (p.Val997Glu) | |
19 | g.7125513C>A | CA403671459 | INSR | c.3028G>T (p.Val1010Leu) c.2992G>T (p.Val998Leu) c.3103G>T (p.Val1035Leu) c.3067G>T (p.Val1023Leu) c.3025G>T (p.Val1009Leu) c.2989G>T (p.Val997Leu) | |
19 | g.7125513C>G | CA403671460 | INSR | c.3028G>C (p.Val1010Leu) c.2992G>C (p.Val998Leu) c.3103G>C (p.Val1035Leu) c.3067G>C (p.Val1023Leu) c.3025G>C (p.Val1009Leu) c.2989G>C (p.Val997Leu) | |
19 | g.7125513C>T | CA403671461 | INSR | c.3028G>A (p.Val1010Met) c.2992G>A (p.Val998Met) c.3103G>A (p.Val1035Met) c.3067G>A (p.Val1023Met) c.3025G>A (p.Val1009Met) c.2989G>A (p.Val997Met) | |
19 | g.7125513_7125514insTTTTTT | CA993105710 | INSR | c.3027_3028insAAAAAA (p.Ser1009_Val1010insLysLys) c.2991_2992insAAAAAA (p.Ser997_Val998insLysLys) c.3102_3103insAAAAAA (p.Ser1034_Val1035insLysLys) c.3066_3067insAAAAAA (p.Ser1022_Val1023insLysLys) c.3024_3025insAAAAAA (p.Ser1008_Val1009insLysLys) c.2988_2989insAAAAAA (p.Ser996_Val997insLysLys) | gnomAD v3 gnomAD v4 |
19 | g.7125514A>C | CA505400298 | INSR | c.3027T>G (p.Ser1009=) c.2991T>G (p.Ser997=) c.3102T>G (p.Ser1034=) c.3066T>G (p.Ser1022=) c.3024T>G (p.Ser1008=) c.2988T>G (p.Ser996=) | |
19 | g.7125514A>G | CA505400299 | INSR | c.3027T>C (p.Ser1009=) c.2991T>C (p.Ser997=) c.3102T>C (p.Ser1034=) c.3066T>C (p.Ser1022=) c.3024T>C (p.Ser1008=) c.2988T>C (p.Ser996=) | |
19 | g.7125514A>T | CA505400300 | INSR | c.3027T>A (p.Ser1009=) c.2991T>A (p.Ser997=) c.3102T>A (p.Ser1034=) c.3066T>A (p.Ser1022=) c.3024T>A (p.Ser1008=) c.2988T>A (p.Ser996=) | |
19 | g.7125515G>A | CA403671462 | INSR | c.3026C>T (p.Ser1009Phe) c.2990C>T (p.Ser997Phe) c.3101C>T (p.Ser1034Phe) c.3065C>T (p.Ser1022Phe) c.3023C>T (p.Ser1008Phe) c.2987C>T (p.Ser996Phe) | |
19 | g.7125515G>C | CA403671463 | INSR | c.3026C>G (p.Ser1009Cys) c.2990C>G (p.Ser997Cys) c.3101C>G (p.Ser1034Cys) c.3065C>G (p.Ser1022Cys) c.3023C>G (p.Ser1008Cys) c.2987C>G (p.Ser996Cys) | gnomAD v4 |
19 | g.7125515G>T | CA403671464 | INSR | c.3026C>A (p.Ser1009Tyr) c.2990C>A (p.Ser997Tyr) c.3101C>A (p.Ser1034Tyr) c.3065C>A (p.Ser1022Tyr) c.3023C>A (p.Ser1008Tyr) c.2987C>A (p.Ser996Tyr) | |
19 | g.7125515_7125518del | CA993105727 | INSR | c.3023_3026del (p.Cys1008LeufsTer?) c.2987_2990del (p.Cys996LeufsTer?) c.3098_3101del (p.Cys1033LeufsTer?) c.3062_3065del (p.Cys1021LeufsTer?) c.3020_3023del (p.Cys1007LeufsTer?) c.2984_2987del (p.Cys995LeufsTer?) | gnomAD v3 gnomAD v4 |
19 | g.7125516A>C | CA403671465 | INSR | c.3025T>G (p.Ser1009Ala) c.2989T>G (p.Ser997Ala) c.3100T>G (p.Ser1034Ala) c.3064T>G (p.Ser1022Ala) c.3022T>G (p.Ser1008Ala) c.2986T>G (p.Ser996Ala) | |
19 | g.7125516A>G | CA403671466 | INSR | c.3025T>C (p.Ser1009Pro) c.2989T>C (p.Ser997Pro) c.3100T>C (p.Ser1034Pro) c.3064T>C (p.Ser1022Pro) c.3022T>C (p.Ser1008Pro) c.2986T>C (p.Ser996Pro) | |
19 | g.7125516A>T | CA403671467 | INSR | c.3025T>A (p.Ser1009Thr) c.2989T>A (p.Ser997Thr) c.3100T>A (p.Ser1034Thr) c.3064T>A (p.Ser1022Thr) c.3022T>A (p.Ser1008Thr) c.2986T>A (p.Ser996Thr) | |
19 | g.7125517G>A | CA505400301 | INSR | c.3024C>T (p.Cys1008=) c.2988C>T (p.Cys996=) c.3099C>T (p.Cys1033=) c.3063C>T (p.Cys1021=) c.3021C>T (p.Cys1007=) c.2985C>T (p.Cys995=) | |
19 | g.7125517G>C | CA403671468 | INSR | c.3024C>G (p.Cys1008Trp) c.2988C>G (p.Cys996Trp) c.3099C>G (p.Cys1033Trp) c.3063C>G (p.Cys1021Trp) c.3021C>G (p.Cys1007Trp) c.2985C>G (p.Cys995Trp) | |
19 | g.7125517G>T | CA403671469 | INSR | c.3024C>A (p.Cys1008Ter) c.2988C>A (p.Cys996Ter) c.3099C>A (p.Cys1033Ter) c.3063C>A (p.Cys1021Ter) c.3021C>A (p.Cys1007Ter) c.2985C>A (p.Cys995Ter) | |
19 | g.7125518C>A | CA403671472 | INSR | c.3023G>T (p.Cys1008Phe) c.2987G>T (p.Cys996Phe) c.3098G>T (p.Cys1033Phe) c.3062G>T (p.Cys1021Phe) c.3020G>T (p.Cys1007Phe) c.2984G>T (p.Cys995Phe) | |
19 | g.7125518C= | CA2320767996 | INSR | c.3023G= (p.Cys1008=) c.2987G= (p.Cys996=) c.3098G= (p.Cys1033=) c.3062G= (p.Cys1021=) c.3020G= (p.Cys1007=) c.2984G= (p.Cys995=) | |
19 | g.7125518C>G | CA403671471 | INSR | c.3023G>C (p.Cys1008Ser) c.2987G>C (p.Cys996Ser) c.3098G>C (p.Cys1033Ser) c.3062G>C (p.Cys1021Ser) c.3020G>C (p.Cys1007Ser) c.2984G>C (p.Cys995Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.7125518C>T | CA403671470 | INSR | c.3023G>A (p.Cys1008Tyr) c.2987G>A (p.Cys996Tyr) c.3098G>A (p.Cys1033Tyr) c.3062G>A (p.Cys1021Tyr) c.3020G>A (p.Cys1007Tyr) c.2984G>A (p.Cys995Tyr) | |
19 | g.7125519A= | CA2320767997 | INSR | c.3022T= (p.Cys1008=) c.2986T= (p.Cys996=) c.3097T= (p.Cys1033=) c.3061T= (p.Cys1021=) c.3019T= (p.Cys1007=) c.2983T= (p.Cys995=) | |
19 | g.7125519A>C | CA403671473 | INSR | c.3022T>G (p.Cys1008Gly) c.2986T>G (p.Cys996Gly) c.3097T>G (p.Cys1033Gly) c.3061T>G (p.Cys1021Gly) c.3019T>G (p.Cys1007Gly) c.2983T>G (p.Cys995Gly) | |
19 | g.7125519A>G | CA403671474 | INSR | c.3022T>C (p.Cys1008Arg) c.2986T>C (p.Cys996Arg) c.3097T>C (p.Cys1033Arg) c.3061T>C (p.Cys1021Arg) c.3019T>C (p.Cys1007Arg) c.2983T>C (p.Cys995Arg) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7125519A>T | CA403671475 | INSR | c.3022T>A (p.Cys1008Ser) c.2986T>A (p.Cys996Ser) c.3097T>A (p.Cys1033Ser) c.3061T>A (p.Cys1021Ser) c.3019T>A (p.Cys1007Ser) c.2983T>A (p.Cys995Ser) | |
19 | g.7125520T>A | CA505400302 | INSR | c.3021A>T (p.Pro1007=) c.2985A>T (p.Pro995=) c.3096A>T (p.Pro1032=) c.3060A>T (p.Pro1020=) c.3018A>T (p.Pro1006=) c.2982A>T (p.Pro994=) | |
19 | g.7125520T>C | CA304873546 | INSR | c.3021A>G (p.Pro1007=) c.2985A>G (p.Pro995=) c.3096A>G (p.Pro1032=) c.3060A>G (p.Pro1020=) c.3018A>G (p.Pro1006=) c.2982A>G (p.Pro994=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7125520T>G | CA505400303 | INSR | c.3021A>C (p.Pro1007=) c.2985A>C (p.Pro995=) c.3096A>C (p.Pro1032=) c.3060A>C (p.Pro1020=) c.3018A>C (p.Pro1006=) c.2982A>C (p.Pro994=) | |
19 | g.7125520T= | CA2320767998 | INSR | c.3021A= (p.Pro1007=) c.2985A= (p.Pro995=) c.3096A= (p.Pro1032=) c.3060A= (p.Pro1020=) c.3018A= (p.Pro1006=) c.2982A= (p.Pro994=) | |
19 | g.7125521G>A | CA403671476 | INSR | c.3020C>T (p.Pro1007Leu) c.2984C>T (p.Pro995Leu) c.3095C>T (p.Pro1032Leu) c.3059C>T (p.Pro1020Leu) c.3017C>T (p.Pro1006Leu) c.2981C>T (p.Pro994Leu) | |
19 | g.7125521G>C | CA403671477 | INSR | c.3020C>G (p.Pro1007Arg) c.2984C>G (p.Pro995Arg) c.3095C>G (p.Pro1032Arg) c.3059C>G (p.Pro1020Arg) c.3017C>G (p.Pro1006Arg) c.2981C>G (p.Pro994Arg) | |
19 | g.7125521G>T | CA403671478 | INSR | c.3020C>A (p.Pro1007Gln) c.2984C>A (p.Pro995Gln) c.3095C>A (p.Pro1032Gln) c.3059C>A (p.Pro1020Gln) c.3017C>A (p.Pro1006Gln) c.2981C>A (p.Pro994Gln) | gnomAD v4 |
19 | g.7125522del | CA993105736 | INSR | c.3020del (p.Pro1007HisfsTer?) c.2984del (p.Pro995HisfsTer?) c.3095del (p.Pro1032HisfsTer?) c.3059del (p.Pro1020HisfsTer?) c.3017del (p.Pro1006HisfsTer?) c.2981del (p.Pro994HisfsTer?) | gnomAD v3 gnomAD v4 |
19 | g.7125522G>A | CA304873548 | INSR | c.3019C>T (p.Pro1007Ser) c.2983C>T (p.Pro995Ser) c.3094C>T (p.Pro1032Ser) c.3058C>T (p.Pro1020Ser) c.3016C>T (p.Pro1006Ser) c.2980C>T (p.Pro994Ser) | dbSNP |
19 | g.7125522G>C | CA403671479 | INSR | c.3019C>G (p.Pro1007Ala) c.2983C>G (p.Pro995Ala) c.3094C>G (p.Pro1032Ala) c.3058C>G (p.Pro1020Ala) c.3016C>G (p.Pro1006Ala) c.2980C>G (p.Pro994Ala) | gnomAD v4 |
19 | g.7125522G= | CA2320767999 | INSR | c.3019C= (p.Pro1007=) c.2983C= (p.Pro995=) c.3094C= (p.Pro1032=) c.3058C= (p.Pro1020=) c.3016C= (p.Pro1006=) c.2980C= (p.Pro994=) | |
19 | g.7125522G>T | CA403671480 | INSR | c.3019C>A (p.Pro1007Thr) c.2983C>A (p.Pro995Thr) c.3094C>A (p.Pro1032Thr) c.3058C>A (p.Pro1020Thr) c.3016C>A (p.Pro1006Thr) c.2980C>A (p.Pro994Thr) | gnomAD v4 |
19 | g.7125523A= | CA2320768000 | INSR | c.3018T= (p.Phe1006=) c.2982T= (p.Phe994=) c.3093T= (p.Phe1031=) c.3057T= (p.Phe1019=) c.3015T= (p.Phe1005=) c.2979T= (p.Phe993=) | |
19 | g.7125523A>C | CA403671481 | INSR | c.3018T>G (p.Phe1006Leu) c.2982T>G (p.Phe994Leu) c.3093T>G (p.Phe1031Leu) c.3057T>G (p.Phe1019Leu) c.3015T>G (p.Phe1005Leu) c.2979T>G (p.Phe993Leu) | |
19 | g.7125523A>G | CA9135373 | INSR | c.3018T>C (p.Phe1006=) c.2982T>C (p.Phe994=) c.3093T>C (p.Phe1031=) c.3057T>C (p.Phe1019=) c.3015T>C (p.Phe1005=) c.2979T>C (p.Phe993=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7125523A>T | CA403671482 | INSR | c.3018T>A (p.Phe1006Leu) c.2982T>A (p.Phe994Leu) c.3093T>A (p.Phe1031Leu) c.3057T>A (p.Phe1019Leu) c.3015T>A (p.Phe1005Leu) c.2979T>A (p.Phe993Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7125524A>C | CA403671484 | INSR | c.3017T>G (p.Phe1006Cys) c.2981T>G (p.Phe994Cys) c.3092T>G (p.Phe1031Cys) c.3056T>G (p.Phe1019Cys) c.3014T>G (p.Phe1005Cys) c.2978T>G (p.Phe993Cys) | |
19 | g.7125524A>G | CA403671485 | INSR | c.3017T>C (p.Phe1006Ser) c.2981T>C (p.Phe994Ser) c.3092T>C (p.Phe1031Ser) c.3056T>C (p.Phe1019Ser) c.3014T>C (p.Phe1005Ser) c.2978T>C (p.Phe993Ser) | |
19 | g.7125524A>T | CA403671483 | INSR | c.3017T>A (p.Phe1006Tyr) c.2981T>A (p.Phe994Tyr) c.3092T>A (p.Phe1031Tyr) c.3056T>A (p.Phe1019Tyr) c.3014T>A (p.Phe1005Tyr) c.2978T>A (p.Phe993Tyr) | gnomAD v3 gnomAD v4 |
19 | g.7125525A>C | CA403671487 | INSR | c.3016T>G (p.Phe1006Val) c.2980T>G (p.Phe994Val) c.3091T>G (p.Phe1031Val) c.3055T>G (p.Phe1019Val) c.3013T>G (p.Phe1005Val) c.2977T>G (p.Phe993Val) | |
19 | g.7125525A>G | CA403671486 | INSR | c.3016T>C (p.Phe1006Leu) c.2980T>C (p.Phe994Leu) c.3091T>C (p.Phe1031Leu) c.3055T>C (p.Phe1019Leu) c.3013T>C (p.Phe1005Leu) c.2977T>C (p.Phe993Leu) | |
19 | g.7125525A>T | CA403671488 | INSR | c.3016T>A (p.Phe1006Ile) c.2980T>A (p.Phe994Ile) c.3091T>A (p.Phe1031Ile) c.3055T>A (p.Phe1019Ile) c.3013T>A (p.Phe1005Ile) c.2977T>A (p.Phe993Ile) | |
19 | g.7125526C>A | CA505400304 | INSR | c.3015G>T (p.Val1005=) c.2979G>T (p.Val993=) c.3090G>T (p.Val1030=) c.3054G>T (p.Val1018=) c.3012G>T (p.Val1004=) c.2976G>T (p.Val992=) | |
19 | g.7125526C>G | CA505400305 | INSR | c.3015G>C (p.Val1005=) c.2979G>C (p.Val993=) c.3090G>C (p.Val1030=) c.3054G>C (p.Val1018=) c.3012G>C (p.Val1004=) c.2976G>C (p.Val992=) | |
19 | g.7125526C>T | CA505400306 | INSR | c.3015G>A (p.Val1005=) c.2979G>A (p.Val993=) c.3090G>A (p.Val1030=) c.3054G>A (p.Val1018=) c.3012G>A (p.Val1004=) c.2976G>A (p.Val992=) | gnomAD v4 |
19 | g.7125526_7125527insGGCG | CA993105745 | INSR | c.3014_3015insCGCC (p.Phe1006AlafsTer?) c.2978_2979insCGCC (p.Phe994AlafsTer?) c.3089_3090insCGCC (p.Phe1031AlafsTer?) c.3053_3054insCGCC (p.Phe1019AlafsTer?) c.3011_3012insCGCC (p.Phe1005AlafsTer?) c.2975_2976insCGCC (p.Phe993AlafsTer?) | gnomAD v3 gnomAD v4 |
19 | g.7125527A= | CA2320768001 | INSR | c.3014T= (p.Val1005=) c.2978T= (p.Val993=) c.3089T= (p.Val1030=) c.3053T= (p.Val1018=) c.3011T= (p.Val1004=) c.2975T= (p.Val992=) | |
19 | g.7125527A>C | CA403671489 | INSR | c.3014T>G (p.Val1005Gly) c.2978T>G (p.Val993Gly) c.3089T>G (p.Val1030Gly) c.3053T>G (p.Val1018Gly) c.3011T>G (p.Val1004Gly) c.2975T>G (p.Val992Gly) | gnomAD v4 |
19 | g.7125527A>G | CA403671490 | INSR | c.3014T>C (p.Val1005Ala) c.2978T>C (p.Val993Ala) c.3089T>C (p.Val1030Ala) c.3053T>C (p.Val1018Ala) c.3011T>C (p.Val1004Ala) c.2975T>C (p.Val992Ala) | gnomAD v4 |
19 | g.7125527A>T | CA403671491 | INSR | c.3014T>A (p.Val1005Glu) c.2978T>A (p.Val993Glu) c.3089T>A (p.Val1030Glu) c.3053T>A (p.Val1018Glu) c.3011T>A (p.Val1004Glu) c.2975T>A (p.Val992Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7125528C>A | CA403671492 | INSR | c.3014-1G>T (n.3014-1G>T) c.2978-1G>T (n.2978-1G>T) c.3089-1G>T (n.3089-1G>T) c.3053-1G>T (n.3053-1G>T) c.3011-1G>T (n.3011-1G>T) c.2975-1G>T (n.2975-1G>T) | |
19 | g.7125528C>G | CA403671493 | INSR | c.3014-1G>C (n.3014-1G>C) c.2978-1G>C (n.2978-1G>C) c.3089-1G>C (n.3089-1G>C) c.3053-1G>C (n.3053-1G>C) c.3011-1G>C (n.3011-1G>C) c.2975-1G>C (n.2975-1G>C) | |
19 | g.7125528C>T | CA403671494 | INSR | c.3014-1G>A (n.3014-1G>A) c.2978-1G>A (n.2978-1G>A) c.3089-1G>A (n.3089-1G>A) c.3053-1G>A (n.3053-1G>A) c.3011-1G>A (n.3011-1G>A) c.2975-1G>A (n.2975-1G>A) | |
19 | g.7125529T>A | CA403671495 | INSR | c.3014-2A>T (n.3014-2A>T) c.2978-2A>T (n.2978-2A>T) c.3089-2A>T (n.3089-2A>T) c.3053-2A>T (n.3053-2A>T) c.3011-2A>T (n.3011-2A>T) c.2975-2A>T (n.2975-2A>T) | |
19 | g.7125529T>C | CA403671496 | INSR | c.3014-2A>G (n.3014-2A>G) c.2978-2A>G (n.2978-2A>G) c.3089-2A>G (n.3089-2A>G) c.3053-2A>G (n.3053-2A>G) c.3011-2A>G (n.3011-2A>G) c.2975-2A>G (n.2975-2A>G) | gnomAD v3 gnomAD v4 |
19 | g.7125529T>G | CA403671497 | INSR | c.3014-2A>C (n.3014-2A>C) c.2978-2A>C (n.2978-2A>C) c.3089-2A>C (n.3089-2A>C) c.3053-2A>C (n.3053-2A>C) c.3011-2A>C (n.3011-2A>C) c.2975-2A>C (n.2975-2A>C) | |
19 | g.7125532T>C | CA2587922100 | INSR | c.3014-5A>G (n.3014-5A>G) c.2978-5A>G (n.2978-5A>G) c.3089-5A>G (n.3089-5A>G) c.3053-5A>G (n.3053-5A>G) c.3011-5A>G (n.3011-5A>G) c.2975-5A>G (n.2975-5A>G) | gnomAD v4 |
19 | g.7125533T>A | CA2587922101 | INSR | c.3014-6A>T (n.3014-6A>T) c.2978-6A>T (n.2978-6A>T) c.3089-6A>T (n.3089-6A>T) c.3053-6A>T (n.3053-6A>T) c.3011-6A>T (n.3011-6A>T) c.2975-6A>T (n.2975-6A>T) | gnomAD v4 |
19 | g.7125534C>T | CA2838534635 | INSR | c.3014-7G>A (n.3014-7G>A) c.2978-7G>A (n.2978-7G>A) c.3089-7G>A (n.3089-7G>A) c.3053-7G>A (n.3053-7G>A) c.3011-7G>A (n.3011-7G>A) c.2975-7G>A (n.2975-7G>A) | |
19 | g.7125535T>C | CA304873549 | INSR | c.3014-8A>G (n.3014-8A>G) c.2978-8A>G (n.2978-8A>G) c.3089-8A>G (n.3089-8A>G) c.3053-8A>G (n.3053-8A>G) c.3011-8A>G (n.3011-8A>G) c.2975-8A>G (n.2975-8A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7125535T= | CA2320768002 | INSR | c.3014-8A= (n.3014-8A=) c.2978-8A= (n.2978-8A=) c.3089-8A= (n.3089-8A=) c.3053-8A= (n.3053-8A=) c.3011-8A= (n.3011-8A=) c.2975-8A= (n.2975-8A=) | |
19 | g.7125536T>A | CA2842346610 | INSR | c.3014-9A>T (n.3014-9A>T) c.2978-9A>T (n.2978-9A>T) c.3089-9A>T (n.3089-9A>T) c.3053-9A>T (n.3053-9A>T) c.3011-9A>T (n.3011-9A>T) c.2975-9A>T (n.2975-9A>T) | |
19 | g.7125536T>C | CA2735470788 | INSR | c.3014-9A>G (n.3014-9A>G) c.2978-9A>G (n.2978-9A>G) c.3089-9A>G (n.3089-9A>G) c.3053-9A>G (n.3053-9A>G) c.3011-9A>G (n.3011-9A>G) c.2975-9A>G (n.2975-9A>G) | dbSNP |
19 | g.7125537A>G | CA2587922102 | INSR | c.3014-10T>C (n.3014-10T>C) c.2978-10T>C (n.2978-10T>C) c.3089-10T>C (n.3089-10T>C) c.3053-10T>C (n.3053-10T>C) c.3011-10T>C (n.3011-10T>C) c.2975-10T>C (n.2975-10T>C) | gnomAD v4 |
19 | g.7125537A>T | CA2587922103 | INSR | c.3014-10T>A (n.3014-10T>A) c.2978-10T>A (n.2978-10T>A) c.3089-10T>A (n.3089-10T>A) c.3053-10T>A (n.3053-10T>A) c.3011-10T>A (n.3011-10T>A) c.2975-10T>A (n.2975-10T>A) | gnomAD v4 |
19 | g.7125538C= | CA2320768003 | INSR | c.3014-11G= (n.3014-11G=) c.2978-11G= (n.2978-11G=) c.3089-11G= (n.3089-11G=) c.3053-11G= (n.3053-11G=) c.3011-11G= (n.3011-11G=) c.2975-11G= (n.2975-11G=) | |
19 | g.7125538C>T | CA2320768004 | INSR | c.3014-11G>A (n.3014-11G>A) c.2978-11G>A (n.2978-11G>A) c.3089-11G>A (n.3089-11G>A) c.3053-11G>A (n.3053-11G>A) c.3011-11G>A (n.3011-11G>A) c.2975-11G>A (n.2975-11G>A) | dbSNP |
19 | g.7125539T>C | CA884176495 | INSR | c.3014-12A>G (n.3014-12A>G) c.2978-12A>G (n.2978-12A>G) c.3089-12A>G (n.3089-12A>G) c.3053-12A>G (n.3053-12A>G) c.3011-12A>G (n.3011-12A>G) c.2975-12A>G (n.2975-12A>G) | dbSNP gnomAD v4 |
19 | g.7125539T= | CA2320768005 | INSR | c.3014-12A= (n.3014-12A=) c.2978-12A= (n.2978-12A=) c.3089-12A= (n.3089-12A=) c.3053-12A= (n.3053-12A=) c.3011-12A= (n.3011-12A=) c.2975-12A= (n.2975-12A=) | |
19 | g.7125540_7125541insCGAG | CA993105756 | INSR | c.3014-14_3014-13insCTCG (n.3014-14_3014-13insCTCG) c.2978-14_2978-13insCTCG (n.2978-14_2978-13insCTCG) c.3089-14_3089-13insCTCG (n.3089-14_3089-13insCTCG) c.3053-14_3053-13insCTCG (n.3053-14_3053-13insCTCG) c.3011-14_3011-13insCTCG (n.3011-14_3011-13insCTCG) c.2975-14_2975-13insCTCG (n.2975-14_2975-13insCTCG) | gnomAD v3 gnomAD v4 |
19 | g.7125541A>T | CA2582314165 | INSR | c.3014-14T>A (n.3014-14T>A) c.2978-14T>A (n.2978-14T>A) c.3089-14T>A (n.3089-14T>A) c.3053-14T>A (n.3053-14T>A) c.3011-14T>A (n.3011-14T>A) c.2975-14T>A (n.2975-14T>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7125542T>C | CA2320768007 | INSR | c.3014-15A>G (n.3014-15A>G) c.2978-15A>G (n.2978-15A>G) c.3089-15A>G (n.3089-15A>G) c.3053-15A>G (n.3053-15A>G) c.3011-15A>G (n.3011-15A>G) c.2975-15A>G (n.2975-15A>G) | dbSNP |
19 | g.7125542T= | CA2320768006 | INSR | c.3014-15A= (n.3014-15A=) c.2978-15A= (n.2978-15A=) c.3089-15A= (n.3089-15A=) c.3053-15A= (n.3053-15A=) c.3011-15A= (n.3011-15A=) c.2975-15A= (n.2975-15A=) | |
19 | g.7125543C>A | CA2839856423 | INSR | c.3014-16G>T (n.3014-16G>T) c.2978-16G>T (n.2978-16G>T) c.3089-16G>T (n.3089-16G>T) c.3053-16G>T (n.3053-16G>T) c.3011-16G>T (n.3011-16G>T) c.2975-16G>T (n.2975-16G>T) | |
19 | g.7125543C= | CA2320768008 | INSR | c.3014-16G= (n.3014-16G=) c.2978-16G= (n.2978-16G=) c.3089-16G= (n.3089-16G=) c.3053-16G= (n.3053-16G=) c.3011-16G= (n.3011-16G=) c.2975-16G= (n.2975-16G=) | |
19 | g.7125543C>G | CA2320768009 | INSR | c.3014-16G>C (n.3014-16G>C) c.2978-16G>C (n.2978-16G>C) c.3089-16G>C (n.3089-16G>C) c.3053-16G>C (n.3053-16G>C) c.3011-16G>C (n.3011-16G>C) c.2975-16G>C (n.2975-16G>C) | dbSNP |
19 | g.7125543C>T | CA2320768010 | INSR | c.3014-16G>A (n.3014-16G>A) c.2978-16G>A (n.2978-16G>A) c.3089-16G>A (n.3089-16G>A) c.3053-16G>A (n.3053-16G>A) c.3011-16G>A (n.3011-16G>A) c.2975-16G>A (n.2975-16G>A) | dbSNP |
19 | g.7125544T>C | CA9135374 | INSR | c.3014-17A>G (n.3014-17A>G) c.2978-17A>G (n.2978-17A>G) c.3089-17A>G (n.3089-17A>G) c.3053-17A>G (n.3053-17A>G) c.3011-17A>G (n.3011-17A>G) c.2975-17A>G (n.2975-17A>G) | dbSNP ExAC gnomAD v4 |
19 | g.7125544T= | CA2320768011 | INSR | c.3014-17A= (n.3014-17A=) c.2978-17A= (n.2978-17A=) c.3089-17A= (n.3089-17A=) c.3053-17A= (n.3053-17A=) c.3011-17A= (n.3011-17A=) c.2975-17A= (n.2975-17A=) | |
19 | g.7125545A>C | CA993105760 | INSR | c.3014-18T>G (n.3014-18T>G) c.2978-18T>G (n.2978-18T>G) c.3089-18T>G (n.3089-18T>G) c.3053-18T>G (n.3053-18T>G) c.3011-18T>G (n.3011-18T>G) c.2975-18T>G (n.2975-18T>G) | gnomAD v3 gnomAD v4 |
19 | g.7125545A>T | CA2499585786 | INSR | c.3014-18T>A (n.3014-18T>A) c.2978-18T>A (n.2978-18T>A) c.3089-18T>A (n.3089-18T>A) c.3053-18T>A (n.3053-18T>A) c.3011-18T>A (n.3011-18T>A) c.2975-18T>A (n.2975-18T>A) | |
19 | g.7125546C= | CA2320768012 | INSR | c.3014-19G= (n.3014-19G=) c.2978-19G= (n.2978-19G=) c.3089-19G= (n.3089-19G=) c.3053-19G= (n.3053-19G=) c.3011-19G= (n.3011-19G=) c.2975-19G= (n.2975-19G=) | |
19 | g.7125546C>G | CA2587922104 | INSR | c.3014-19G>C (n.3014-19G>C) c.2978-19G>C (n.2978-19G>C) c.3089-19G>C (n.3089-19G>C) c.3053-19G>C (n.3053-19G>C) c.3011-19G>C (n.3011-19G>C) c.2975-19G>C (n.2975-19G>C) | gnomAD v4 |
19 | g.7125546C>T | CA631723597 | INSR | c.3014-19G>A (n.3014-19G>A) c.2978-19G>A (n.2978-19G>A) c.3089-19G>A (n.3089-19G>A) c.3053-19G>A (n.3053-19G>A) c.3011-19G>A (n.3011-19G>A) c.2975-19G>A (n.2975-19G>A) | dbSNP gnomAD v2 |
19 | g.7125548C= | CA2320768013 | INSR | c.3014-21G= (n.3014-21G=) c.2978-21G= (n.2978-21G=) c.3089-21G= (n.3089-21G=) c.3053-21G= (n.3053-21G=) c.3011-21G= (n.3011-21G=) c.2975-21G= (n.2975-21G=) | |
19 | g.7125548C>T | CA631723598 | INSR | c.3014-21G>A (n.3014-21G>A) c.2978-21G>A (n.2978-21G>A) c.3089-21G>A (n.3089-21G>A) c.3053-21G>A (n.3053-21G>A) c.3011-21G>A (n.3011-21G>A) c.2975-21G>A (n.2975-21G>A) | dbSNP gnomAD v2 |
19 | g.7125549A= | CA2320768014 | INSR | c.3014-22T= (n.3014-22T=) c.2978-22T= (n.2978-22T=) c.3089-22T= (n.3089-22T=) c.3053-22T= (n.3053-22T=) c.3011-22T= (n.3011-22T=) c.2975-22T= (n.2975-22T=) | |
19 | g.7125549A>G | CA993105766 | INSR | c.3014-22T>C (n.3014-22T>C) c.2978-22T>C (n.2978-22T>C) c.3089-22T>C (n.3089-22T>C) c.3053-22T>C (n.3053-22T>C) c.3011-22T>C (n.3011-22T>C) c.2975-22T>C (n.2975-22T>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7125552A>G | CA2842346611 | INSR | c.3014-25T>C (n.3014-25T>C) c.2978-25T>C (n.2978-25T>C) c.3089-25T>C (n.3089-25T>C) c.3053-25T>C (n.3053-25T>C) c.3011-25T>C (n.3011-25T>C) c.2975-25T>C (n.2975-25T>C) | |
19 | g.7125553T>A | CA2813462928 | INSR | c.3014-26A>T (n.3014-26A>T) c.2978-26A>T (n.2978-26A>T) c.3089-26A>T (n.3089-26A>T) c.3053-26A>T (n.3053-26A>T) c.3011-26A>T (n.3011-26A>T) c.2975-26A>T (n.2975-26A>T) | |
19 | g.7125553T>C | CA2576595012 | INSR | c.3014-26A>G (n.3014-26A>G) c.2978-26A>G (n.2978-26A>G) c.3089-26A>G (n.3089-26A>G) c.3053-26A>G (n.3053-26A>G) c.3011-26A>G (n.3011-26A>G) c.2975-26A>G (n.2975-26A>G) | |
19 | g.7125554C= | CA2320768015 | INSR | c.3014-27G= (n.3014-27G=) c.2978-27G= (n.2978-27G=) c.3089-27G= (n.3089-27G=) c.3053-27G= (n.3053-27G=) c.3011-27G= (n.3011-27G=) c.2975-27G= (n.2975-27G=) | |
19 | g.7125554C>G | CA2320768016 | INSR | c.3014-27G>C (n.3014-27G>C) c.2978-27G>C (n.2978-27G>C) c.3089-27G>C (n.3089-27G>C) c.3053-27G>C (n.3053-27G>C) c.3011-27G>C (n.3011-27G>C) c.2975-27G>C (n.2975-27G>C) | dbSNP gnomAD v4 |
19 | g.7125555C>A | CA2587922105 | INSR | c.3014-28G>T (n.3014-28G>T) c.2978-28G>T (n.2978-28G>T) c.3089-28G>T (n.3089-28G>T) c.3053-28G>T (n.3053-28G>T) c.3011-28G>T (n.3011-28G>T) c.2975-28G>T (n.2975-28G>T) | gnomAD v4 |
19 | g.7125555C= | CA2320768017 | INSR | c.3014-28G= (n.3014-28G=) c.2978-28G= (n.2978-28G=) c.3089-28G= (n.3089-28G=) c.3053-28G= (n.3053-28G=) c.3011-28G= (n.3011-28G=) c.2975-28G= (n.2975-28G=) | |
19 | g.7125555C>G | CA9135375 | INSR | c.3014-28G>C (n.3014-28G>C) c.2978-28G>C (n.2978-28G>C) c.3089-28G>C (n.3089-28G>C) c.3053-28G>C (n.3053-28G>C) c.3011-28G>C (n.3011-28G>C) c.2975-28G>C (n.2975-28G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7125555C>T | CA2587922106 | INSR | c.3014-28G>A (n.3014-28G>A) c.2978-28G>A (n.2978-28G>A) c.3089-28G>A (n.3089-28G>A) c.3053-28G>A (n.3053-28G>A) c.3011-28G>A (n.3011-28G>A) c.2975-28G>A (n.2975-28G>A) | gnomAD v4 |