| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7125283_7125285del | CA2739291167 | INSR | c.3258+1_3258+3del c.3222+1_3222+3del n.104+1_104+3del c.3333+1_3333+3del c.3297+1_3297+3del c.3255+1_3255+3del c.3219+1_3219+3del | |
| 19 | g.7125285C>A | CA403670970 | INSR | c.3256G>T (p.Val1086Leu) c.3220G>T (p.Val1074Leu) n.102G>T c.3331G>T (p.Val1111Leu) c.3295G>T (p.Val1099Leu) c.3253G>T (p.Val1085Leu) c.3217G>T (p.Val1073Leu) | |
| 19 | g.7125285C= | CA2320767903 | INSR | c.3256G= (p.Val1086=) c.3220G= (p.Val1074=) n.102G= c.3331G= (p.Val1111=) c.3295G= (p.Val1099=) c.3253G= (p.Val1085=) c.3217G= (p.Val1073=) | |
| 19 | g.7125285C>G | CA403670969 | INSR | c.3256G>C (p.Val1086Leu) c.3220G>C (p.Val1074Leu) n.102G>C c.3331G>C (p.Val1111Leu) c.3295G>C (p.Val1099Leu) c.3253G>C (p.Val1085Leu) c.3217G>C (p.Val1073Leu) | |
| 19 | g.7125285C>T | CA9135327 | INSR | c.3256G>A (p.Val1086Met) c.3220G>A (p.Val1074Met) n.102G>A c.3331G>A (p.Val1111Met) c.3295G>A (p.Val1099Met) c.3253G>A (p.Val1085Met) c.3217G>A (p.Val1073Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7125286G>A | CA201311 | INSR | c.3255C>T (p.His1085=) c.3219C>T (p.His1073=) n.101C>T c.3330C>T (p.His1110=) c.3294C>T (p.His1098=) c.3252C>T (p.His1084=) c.3216C>T (p.His1072=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7125286G>C | CA403670971 | INSR | c.3255C>G (p.His1085Gln) c.3219C>G (p.His1073Gln) n.101C>G c.3330C>G (p.His1110Gln) c.3294C>G (p.His1098Gln) c.3252C>G (p.His1084Gln) c.3216C>G (p.His1072Gln) | |
| 19 | g.7125286G= | CA2320767904 | INSR | c.3255C= (p.His1085=) c.3219C= (p.His1073=) n.101C= c.3330C= (p.His1110=) c.3294C= (p.His1098=) c.3252C= (p.His1084=) c.3216C= (p.His1072=) | |
| 19 | g.7125286G>T | CA403670972 | INSR | c.3255C>A (p.His1085Gln) c.3219C>A (p.His1073Gln) n.101C>A c.3330C>A (p.His1110Gln) c.3294C>A (p.His1098Gln) c.3252C>A (p.His1084Gln) c.3216C>A (p.His1072Gln) | |
| 19 | g.7125287T>A | CA403670973 | INSR | c.3254A>T (p.His1085Leu) c.3218A>T (p.His1073Leu) n.100A>T c.3329A>T (p.His1110Leu) c.3293A>T (p.His1098Leu) c.3251A>T (p.His1084Leu) c.3215A>T (p.His1072Leu) | |
| 19 | g.7125287T>C | CA403670974 | INSR | c.3254A>G (p.His1085Arg) c.3218A>G (p.His1073Arg) n.100A>G c.3329A>G (p.His1110Arg) c.3293A>G (p.His1098Arg) c.3251A>G (p.His1084Arg) c.3215A>G (p.His1072Arg) | |
| 19 | g.7125287T>G | CA403670975 | INSR | c.3254A>C (p.His1085Pro) c.3218A>C (p.His1073Pro) n.100A>C c.3329A>C (p.His1110Pro) c.3293A>C (p.His1098Pro) c.3251A>C (p.His1084Pro) c.3215A>C (p.His1072Pro) | |
| 19 | g.7125288G>A | CA403670976 | INSR | c.3253C>T (p.His1085Tyr) c.3217C>T (p.His1073Tyr) n.99C>T c.3328C>T (p.His1110Tyr) c.3292C>T (p.His1098Tyr) c.3250C>T (p.His1084Tyr) c.3214C>T (p.His1072Tyr) | |
| 19 | g.7125288G>C | CA403670977 | INSR | c.3253C>G (p.His1085Asp) c.3217C>G (p.His1073Asp) n.99C>G c.3328C>G (p.His1110Asp) c.3292C>G (p.His1098Asp) c.3250C>G (p.His1084Asp) c.3214C>G (p.His1072Asp) | |
| 19 | g.7125288G>T | CA403670978 | INSR | c.3253C>A (p.His1085Asn) c.3217C>A (p.His1073Asn) n.99C>A c.3328C>A (p.His1110Asn) c.3292C>A (p.His1098Asn) c.3250C>A (p.His1084Asn) c.3214C>A (p.His1072Asn) | |
| 19 | g.7125289A>C | CA403670979 | INSR | c.3252T>G (p.His1084Gln) c.3216T>G (p.His1072Gln) n.98T>G c.3327T>G (p.His1109Gln) c.3291T>G (p.His1097Gln) c.3249T>G (p.His1083Gln) c.3213T>G (p.His1071Gln) | |
| 19 | g.7125289A>G | CA505217135 | INSR | c.3252T>C (p.His1084=) c.3216T>C (p.His1072=) n.98T>C c.3327T>C (p.His1109=) c.3291T>C (p.His1097=) c.3249T>C (p.His1083=) c.3213T>C (p.His1071=) | |
| 19 | g.7125289A>T | CA403670980 | INSR | c.3252T>A (p.His1084Gln) c.3216T>A (p.His1072Gln) n.98T>A c.3327T>A (p.His1109Gln) c.3291T>A (p.His1097Gln) c.3249T>A (p.His1083Gln) c.3213T>A (p.His1071Gln) | |
| 19 | g.7125290T>A | CA403670981 | INSR | c.3251A>T (p.His1084Leu) c.3215A>T (p.His1072Leu) n.97A>T c.3326A>T (p.His1109Leu) c.3290A>T (p.His1097Leu) c.3248A>T (p.His1083Leu) c.3212A>T (p.His1071Leu) | |
| 19 | g.7125290T>C | CA403670982 | INSR | c.3251A>G (p.His1084Arg) c.3215A>G (p.His1072Arg) n.97A>G c.3326A>G (p.His1109Arg) c.3290A>G (p.His1097Arg) c.3248A>G (p.His1083Arg) c.3212A>G (p.His1071Arg) | gnomAD v4 |
| 19 | g.7125290T>G | CA403670983 | INSR | c.3251A>C (p.His1084Pro) c.3215A>C (p.His1072Pro) n.97A>C c.3326A>C (p.His1109Pro) c.3290A>C (p.His1097Pro) c.3248A>C (p.His1083Pro) c.3212A>C (p.His1071Pro) | |
| 19 | g.7125291G>A | CA9135328 | INSR | c.3250C>T (p.His1084Tyr) c.3214C>T (p.His1072Tyr) n.96C>T c.3325C>T (p.His1109Tyr) c.3289C>T (p.His1097Tyr) c.3247C>T (p.His1083Tyr) c.3211C>T (p.His1071Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7125291G>C | CA403670984 | INSR | c.3250C>G (p.His1084Asp) c.3214C>G (p.His1072Asp) n.96C>G c.3325C>G (p.His1109Asp) c.3289C>G (p.His1097Asp) c.3247C>G (p.His1083Asp) c.3211C>G (p.His1071Asp) | |
| 19 | g.7125291G= | CA2320767905 | INSR | c.3250C= (p.His1084=) c.3214C= (p.His1072=) n.96C= c.3325C= (p.His1109=) c.3289C= (p.His1097=) c.3247C= (p.His1083=) c.3211C= (p.His1071=) | |
| 19 | g.7125291G>T | CA403670985 | INSR | c.3250C>A (p.His1084Asn) c.3214C>A (p.His1072Asn) n.96C>A c.3325C>A (p.His1109Asn) c.3289C>A (p.His1097Asn) c.3247C>A (p.His1083Asn) c.3211C>A (p.His1071Asn) | |
| 19 | g.7125292G>A | CA505217136 | INSR | c.3249C>T (p.Cys1083=) c.3213C>T (p.Cys1071=) n.95C>T c.3324C>T (p.Cys1108=) c.3288C>T (p.Cys1096=) c.3246C>T (p.Cys1082=) c.3210C>T (p.Cys1070=) | |
| 19 | g.7125292G>C | CA403670986 | INSR | c.3249C>G (p.Cys1083Trp) c.3213C>G (p.Cys1071Trp) n.95C>G c.3324C>G (p.Cys1108Trp) c.3288C>G (p.Cys1096Trp) c.3246C>G (p.Cys1082Trp) c.3210C>G (p.Cys1070Trp) | |
| 19 | g.7125292G= | CA2320767906 | INSR | c.3249C= (p.Cys1083=) c.3213C= (p.Cys1071=) n.95C= c.3324C= (p.Cys1108=) c.3288C= (p.Cys1096=) c.3246C= (p.Cys1082=) c.3210C= (p.Cys1070=) | |
| 19 | g.7125292G>T | CA403670987 | INSR | c.3249C>A (p.Cys1083Ter) c.3213C>A (p.Cys1071Ter) n.95C>A c.3324C>A (p.Cys1108Ter) c.3288C>A (p.Cys1096Ter) c.3246C>A (p.Cys1082Ter) c.3210C>A (p.Cys1070Ter) | dbSNP |
| 19 | g.7125293C>A | CA403670988 | INSR | c.3248G>T (p.Cys1083Phe) c.3212G>T (p.Cys1071Phe) n.94G>T c.3323G>T (p.Cys1108Phe) c.3287G>T (p.Cys1096Phe) c.3245G>T (p.Cys1082Phe) c.3209G>T (p.Cys1070Phe) | |
| 19 | g.7125293C>G | CA403670989 | INSR | c.3248G>C (p.Cys1083Ser) c.3212G>C (p.Cys1071Ser) n.94G>C c.3323G>C (p.Cys1108Ser) c.3287G>C (p.Cys1096Ser) c.3245G>C (p.Cys1082Ser) c.3209G>C (p.Cys1070Ser) | |
| 19 | g.7125293C>T | CA403670990 | INSR | c.3248G>A (p.Cys1083Tyr) c.3212G>A (p.Cys1071Tyr) n.94G>A c.3323G>A (p.Cys1108Tyr) c.3287G>A (p.Cys1096Tyr) c.3245G>A (p.Cys1082Tyr) c.3209G>A (p.Cys1070Tyr) | dbSNP |
| 19 | g.7125294A>C | CA403670991 | INSR | c.3247T>G (p.Cys1083Gly) c.3211T>G (p.Cys1071Gly) n.93T>G c.3322T>G (p.Cys1108Gly) c.3286T>G (p.Cys1096Gly) c.3244T>G (p.Cys1082Gly) c.3208T>G (p.Cys1070Gly) | |
| 19 | g.7125294A>G | CA403670992 | INSR | c.3247T>C (p.Cys1083Arg) c.3211T>C (p.Cys1071Arg) n.93T>C c.3322T>C (p.Cys1108Arg) c.3286T>C (p.Cys1096Arg) c.3244T>C (p.Cys1082Arg) c.3208T>C (p.Cys1070Arg) | |
| 19 | g.7125294A>T | CA403670993 | INSR | c.3247T>A (p.Cys1083Ser) c.3211T>A (p.Cys1071Ser) n.93T>A c.3322T>A (p.Cys1108Ser) c.3286T>A (p.Cys1096Ser) c.3244T>A (p.Cys1082Ser) c.3208T>A (p.Cys1070Ser) | |
| 19 | g.7125295G>A | CA505217138 | INSR | c.3246C>T (p.Thr1082=) c.3210C>T (p.Thr1070=) n.92C>T c.3321C>T (p.Thr1107=) c.3285C>T (p.Thr1095=) c.3243C>T (p.Thr1081=) c.3207C>T (p.Thr1069=) | |
| 19 | g.7125295G>C | CA505217137 | INSR | c.3246C>G (p.Thr1082=) c.3210C>G (p.Thr1070=) n.92C>G c.3321C>G (p.Thr1107=) c.3285C>G (p.Thr1095=) c.3243C>G (p.Thr1081=) c.3207C>G (p.Thr1069=) | |
| 19 | g.7125295G>T | CA505217139 | INSR | c.3246C>A (p.Thr1082=) c.3210C>A (p.Thr1070=) n.92C>A c.3321C>A (p.Thr1107=) c.3285C>A (p.Thr1095=) c.3243C>A (p.Thr1081=) c.3207C>A (p.Thr1069=) | |
| 19 | g.7125296G>A | CA304873306 | INSR | c.3245C>T (p.Thr1082Ile) c.3209C>T (p.Thr1070Ile) n.91C>T c.3320C>T (p.Thr1107Ile) c.3284C>T (p.Thr1095Ile) c.3242C>T (p.Thr1081Ile) c.3206C>T (p.Thr1069Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7125296G>C | CA403670994 | INSR | c.3245C>G (p.Thr1082Ser) c.3209C>G (p.Thr1070Ser) n.91C>G c.3320C>G (p.Thr1107Ser) c.3284C>G (p.Thr1095Ser) c.3242C>G (p.Thr1081Ser) c.3206C>G (p.Thr1069Ser) | |
| 19 | g.7125296G= | CA2320767907 | INSR | c.3245C= (p.Thr1082=) c.3209C= (p.Thr1070=) n.91C= c.3320C= (p.Thr1107=) c.3284C= (p.Thr1095=) c.3242C= (p.Thr1081=) c.3206C= (p.Thr1069=) | |
| 19 | g.7125296G>T | CA403670995 | INSR | c.3245C>A (p.Thr1082Asn) c.3209C>A (p.Thr1070Asn) n.91C>A c.3320C>A (p.Thr1107Asn) c.3284C>A (p.Thr1095Asn) c.3242C>A (p.Thr1081Asn) c.3206C>A (p.Thr1069Asn) | |
| 19 | g.7125297T>A | CA403670996 | INSR | c.3244A>T (p.Thr1082Ser) c.3208A>T (p.Thr1070Ser) n.90A>T c.3319A>T (p.Thr1107Ser) c.3283A>T (p.Thr1095Ser) c.3241A>T (p.Thr1081Ser) c.3205A>T (p.Thr1069Ser) | dbSNP |
| 19 | g.7125297T>C | CA403670997 | INSR | c.3244A>G (p.Thr1082Ala) c.3208A>G (p.Thr1070Ala) n.90A>G c.3319A>G (p.Thr1107Ala) c.3283A>G (p.Thr1095Ala) c.3241A>G (p.Thr1081Ala) c.3205A>G (p.Thr1069Ala) | |
| 19 | g.7125297T>G | CA9135329 | INSR | c.3244A>C (p.Thr1082Pro) c.3208A>C (p.Thr1070Pro) n.90A>C c.3319A>C (p.Thr1107Pro) c.3283A>C (p.Thr1095Pro) c.3241A>C (p.Thr1081Pro) c.3205A>C (p.Thr1069Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7125297T= | CA2320767908 | INSR | c.3244A= (p.Thr1082=) c.3208A= (p.Thr1070=) n.90A= c.3319A= (p.Thr1107=) c.3283A= (p.Thr1095=) c.3241A= (p.Thr1081=) c.3205A= (p.Thr1069=) | |
| 19 | g.7125298G>A | CA505400169 | INSR | c.3243C>T (p.Phe1081=) c.3207C>T (p.Phe1069=) n.89C>T c.3318C>T (p.Phe1106=) c.3282C>T (p.Phe1094=) c.3240C>T (p.Phe1080=) c.3204C>T (p.Phe1068=) | |
| 19 | g.7125298G>C | CA403670998 | INSR | c.3243C>G (p.Phe1081Leu) c.3207C>G (p.Phe1069Leu) n.89C>G c.3318C>G (p.Phe1106Leu) c.3282C>G (p.Phe1094Leu) c.3240C>G (p.Phe1080Leu) c.3204C>G (p.Phe1068Leu) | |
| 19 | g.7125298G>T | CA403670999 | INSR | c.3243C>A (p.Phe1081Leu) c.3207C>A (p.Phe1069Leu) n.89C>A c.3318C>A (p.Phe1106Leu) c.3282C>A (p.Phe1094Leu) c.3240C>A (p.Phe1080Leu) c.3204C>A (p.Phe1068Leu) | gnomAD v4 |
| 19 | g.7125299A= | CA2320767909 | INSR | c.3242T= (p.Phe1081=) c.3206T= (p.Phe1069=) n.88T= c.3317T= (p.Phe1106=) c.3281T= (p.Phe1094=) c.3239T= (p.Phe1080=) c.3203T= (p.Phe1068=) | |
| 19 | g.7125299A>C | CA403671000 | INSR | c.3242T>G (p.Phe1081Cys) c.3206T>G (p.Phe1069Cys) n.88T>G c.3317T>G (p.Phe1106Cys) c.3281T>G (p.Phe1094Cys) c.3239T>G (p.Phe1080Cys) c.3203T>G (p.Phe1068Cys) | |
| 19 | g.7125299A>G | CA403671001 | INSR | c.3242T>C (p.Phe1081Ser) c.3206T>C (p.Phe1069Ser) n.88T>C c.3317T>C (p.Phe1106Ser) c.3281T>C (p.Phe1094Ser) c.3239T>C (p.Phe1080Ser) c.3203T>C (p.Phe1068Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7125299A>T | CA403671002 | INSR | c.3242T>A (p.Phe1081Tyr) c.3206T>A (p.Phe1069Tyr) n.88T>A c.3317T>A (p.Phe1106Tyr) c.3281T>A (p.Phe1094Tyr) c.3239T>A (p.Phe1080Tyr) c.3203T>A (p.Phe1068Tyr) | |
| 19 | g.7125300A>C | CA403671003 | INSR | c.3241T>G (p.Phe1081Val) c.3205T>G (p.Phe1069Val) n.87T>G c.3316T>G (p.Phe1106Val) c.3280T>G (p.Phe1094Val) c.3238T>G (p.Phe1080Val) c.3202T>G (p.Phe1068Val) | |
| 19 | g.7125300A>G | CA403671004 | INSR | c.3241T>C (p.Phe1081Leu) c.3205T>C (p.Phe1069Leu) n.87T>C c.3316T>C (p.Phe1106Leu) c.3280T>C (p.Phe1094Leu) c.3238T>C (p.Phe1080Leu) c.3202T>C (p.Phe1068Leu) | |
| 19 | g.7125300A>T | CA403671005 | INSR | c.3241T>A (p.Phe1081Ile) c.3205T>A (p.Phe1069Ile) n.87T>A c.3316T>A (p.Phe1106Ile) c.3280T>A (p.Phe1094Ile) c.3238T>A (p.Phe1080Ile) c.3202T>A (p.Phe1068Ile) | |
| 19 | g.7125301G>A | CA505400172 | INSR | c.3240C>T (p.Gly1080=) c.3204C>T (p.Gly1068=) n.86C>T c.3315C>T (p.Gly1105=) c.3279C>T (p.Gly1093=) c.3237C>T (p.Gly1079=) c.3201C>T (p.Gly1067=) | gnomAD v4 |
| 19 | g.7125301G>C | CA505400171 | INSR | c.3240C>G (p.Gly1080=) c.3204C>G (p.Gly1068=) n.86C>G c.3315C>G (p.Gly1105=) c.3279C>G (p.Gly1093=) c.3237C>G (p.Gly1079=) c.3201C>G (p.Gly1067=) | |
| 19 | g.7125301G>T | CA505400170 | INSR | c.3240C>A (p.Gly1080=) c.3204C>A (p.Gly1068=) n.86C>A c.3315C>A (p.Gly1105=) c.3279C>A (p.Gly1093=) c.3237C>A (p.Gly1079=) c.3201C>A (p.Gly1067=) | |
| 19 | g.7125302C>A | CA403671007 | INSR | c.3239G>T (p.Gly1080Val) c.3203G>T (p.Gly1068Val) n.85G>T c.3314G>T (p.Gly1105Val) c.3278G>T (p.Gly1093Val) c.3236G>T (p.Gly1079Val) c.3200G>T (p.Gly1067Val) | |
| 19 | g.7125302C= | CA2320767910 | INSR | c.3239G= (p.Gly1080=) c.3203G= (p.Gly1068=) n.85G= c.3314G= (p.Gly1105=) c.3278G= (p.Gly1093=) c.3236G= (p.Gly1079=) c.3200G= (p.Gly1067=) | |
| 19 | g.7125302C>G | CA403671006 | INSR | c.3239G>C (p.Gly1080Ala) c.3203G>C (p.Gly1068Ala) n.85G>C c.3314G>C (p.Gly1105Ala) c.3278G>C (p.Gly1093Ala) c.3236G>C (p.Gly1079Ala) c.3200G>C (p.Gly1067Ala) | COSMIC COSMIC |
| 19 | g.7125302C>T | CA9135330 | INSR | c.3239G>A (p.Gly1080Asp) c.3203G>A (p.Gly1068Asp) n.85G>A c.3314G>A (p.Gly1105Asp) c.3278G>A (p.Gly1093Asp) c.3236G>A (p.Gly1079Asp) c.3200G>A (p.Gly1067Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7125303C>A | CA403671008 | INSR | c.3238G>T (p.Gly1080Cys) c.3202G>T (p.Gly1068Cys) n.84G>T c.3313G>T (p.Gly1105Cys) c.3277G>T (p.Gly1093Cys) c.3235G>T (p.Gly1079Cys) c.3199G>T (p.Gly1067Cys) | |
| 19 | g.7125303C>G | CA403671009 | INSR | c.3238G>C (p.Gly1080Arg) c.3202G>C (p.Gly1068Arg) n.84G>C c.3313G>C (p.Gly1105Arg) c.3277G>C (p.Gly1093Arg) c.3235G>C (p.Gly1079Arg) c.3199G>C (p.Gly1067Arg) | |
| 19 | g.7125303C>T | CA403671010 | INSR | c.3238G>A (p.Gly1080Ser) c.3202G>A (p.Gly1068Ser) n.84G>A c.3313G>A (p.Gly1105Ser) c.3277G>A (p.Gly1093Ser) c.3235G>A (p.Gly1079Ser) c.3199G>A (p.Gly1067Ser) | |
| 19 | g.7125304C>A | CA403671011 | INSR | c.3237G>T (p.Lys1079Asn) c.3201G>T (p.Lys1067Asn) n.83G>T c.3312G>T (p.Lys1104Asn) c.3276G>T (p.Lys1092Asn) c.3234G>T (p.Lys1078Asn) c.3198G>T (p.Lys1066Asn) | |
| 19 | g.7125304C>G | CA403671012 | INSR | c.3237G>C (p.Lys1079Asn) c.3201G>C (p.Lys1067Asn) n.83G>C c.3312G>C (p.Lys1104Asn) c.3276G>C (p.Lys1092Asn) c.3234G>C (p.Lys1078Asn) c.3198G>C (p.Lys1066Asn) | |
| 19 | g.7125304C>T | CA505400173 | INSR | c.3237G>A (p.Lys1079=) c.3201G>A (p.Lys1067=) n.83G>A c.3312G>A (p.Lys1104=) c.3276G>A (p.Lys1092=) c.3234G>A (p.Lys1078=) c.3198G>A (p.Lys1066=) | gnomAD v4 |
| 19 | g.7125305T>A | CA403671013 | INSR | c.3236A>T (p.Lys1079Met) c.3200A>T (p.Lys1067Met) n.82A>T c.3311A>T (p.Lys1104Met) c.3275A>T (p.Lys1092Met) c.3233A>T (p.Lys1078Met) c.3197A>T (p.Lys1066Met) | |
| 19 | g.7125305T>C | CA403671015 | INSR | c.3236A>G (p.Lys1079Arg) c.3200A>G (p.Lys1067Arg) n.82A>G c.3311A>G (p.Lys1104Arg) c.3275A>G (p.Lys1092Arg) c.3233A>G (p.Lys1078Arg) c.3197A>G (p.Lys1066Arg) | |
| 19 | g.7125305T>G | CA403671014 | INSR | c.3236A>C (p.Lys1079Thr) c.3200A>C (p.Lys1067Thr) n.82A>C c.3311A>C (p.Lys1104Thr) c.3275A>C (p.Lys1092Thr) c.3233A>C (p.Lys1078Thr) c.3197A>C (p.Lys1066Thr) | |
| 19 | g.7125306T>A | CA403671016 | INSR | c.3235A>T (p.Lys1079Ter) c.3199A>T (p.Lys1067Ter) n.81A>T c.3310A>T (p.Lys1104Ter) c.3274A>T (p.Lys1092Ter) c.3232A>T (p.Lys1078Ter) c.3196A>T (p.Lys1066Ter) | |
| 19 | g.7125306T>C | CA403671017 | INSR | c.3235A>G (p.Lys1079Glu) c.3199A>G (p.Lys1067Glu) n.81A>G c.3310A>G (p.Lys1104Glu) c.3274A>G (p.Lys1092Glu) c.3232A>G (p.Lys1078Glu) c.3196A>G (p.Lys1066Glu) | |
| 19 | g.7125306T>G | CA403671018 | INSR | c.3235A>C (p.Lys1079Gln) c.3199A>C (p.Lys1067Gln) n.81A>C c.3310A>C (p.Lys1104Gln) c.3274A>C (p.Lys1092Gln) c.3232A>C (p.Lys1078Gln) c.3196A>C (p.Lys1066Gln) | |
| 19 | g.7125307C>A | CA403671019 | INSR | c.3234G>T (p.Met1078Ile) c.3198G>T (p.Met1066Ile) n.80G>T c.3309G>T (p.Met1103Ile) c.3273G>T (p.Met1091Ile) c.3231G>T (p.Met1077Ile) c.3195G>T (p.Met1065Ile) | |
| 19 | g.7125307C>G | CA403671020 | INSR | c.3234G>C (p.Met1078Ile) c.3198G>C (p.Met1066Ile) n.80G>C c.3309G>C (p.Met1103Ile) c.3273G>C (p.Met1091Ile) c.3231G>C (p.Met1077Ile) c.3195G>C (p.Met1065Ile) | |
| 19 | g.7125307C>T | CA403671021 | INSR | c.3234G>A (p.Met1078Ile) c.3198G>A (p.Met1066Ile) n.80G>A c.3309G>A (p.Met1103Ile) c.3273G>A (p.Met1091Ile) c.3231G>A (p.Met1077Ile) c.3195G>A (p.Met1065Ile) | ClinVar dbSNP |
| 19 | g.7125308A>C | CA403671022 | INSR | c.3233T>G (p.Met1078Arg) c.3197T>G (p.Met1066Arg) n.79T>G c.3308T>G (p.Met1103Arg) c.3272T>G (p.Met1091Arg) c.3230T>G (p.Met1077Arg) c.3194T>G (p.Met1065Arg) | |
| 19 | g.7125308A>G | CA403671023 | INSR | c.3233T>C (p.Met1078Thr) c.3197T>C (p.Met1066Thr) n.79T>C c.3308T>C (p.Met1103Thr) c.3272T>C (p.Met1091Thr) c.3230T>C (p.Met1077Thr) c.3194T>C (p.Met1065Thr) | |
| 19 | g.7125308A>T | CA403671024 | INSR | c.3233T>A (p.Met1078Lys) c.3197T>A (p.Met1066Lys) n.79T>A c.3308T>A (p.Met1103Lys) c.3272T>A (p.Met1091Lys) c.3230T>A (p.Met1077Lys) c.3194T>A (p.Met1065Lys) | |
| 19 | g.7125309T>A | CA403671025 | INSR | c.3232A>T (p.Met1078Leu) c.3196A>T (p.Met1066Leu) n.78A>T c.3307A>T (p.Met1103Leu) c.3271A>T (p.Met1091Leu) c.3229A>T (p.Met1077Leu) c.3193A>T (p.Met1065Leu) | |
| 19 | g.7125309T>C | CA403671026 | INSR | c.3232A>G (p.Met1078Val) c.3196A>G (p.Met1066Val) n.78A>G c.3307A>G (p.Met1103Val) c.3271A>G (p.Met1091Val) c.3229A>G (p.Met1077Val) c.3193A>G (p.Met1065Val) | |
| 19 | g.7125309T>G | CA403671027 | INSR | c.3232A>C (p.Met1078Leu) c.3196A>C (p.Met1066Leu) n.78A>C c.3307A>C (p.Met1103Leu) c.3271A>C (p.Met1091Leu) c.3229A>C (p.Met1077Leu) c.3193A>C (p.Met1065Leu) | |
| 19 | g.7125310G>A | CA505400176 | INSR | c.3231C>T (p.Val1077=) c.3195C>T (p.Val1065=) n.77C>T c.3306C>T (p.Val1102=) c.3270C>T (p.Val1090=) c.3228C>T (p.Val1076=) c.3192C>T (p.Val1064=) | dbSNP gnomAD v4 |
| 19 | g.7125310G>C | CA505400175 | INSR | c.3231C>G (p.Val1077=) c.3195C>G (p.Val1065=) n.77C>G c.3306C>G (p.Val1102=) c.3270C>G (p.Val1090=) c.3228C>G (p.Val1076=) c.3192C>G (p.Val1064=) | |
| 19 | g.7125310G= | CA2320767911 | INSR | c.3231C= (p.Val1077=) c.3195C= (p.Val1065=) n.77C= c.3306C= (p.Val1102=) c.3270C= (p.Val1090=) c.3228C= (p.Val1076=) c.3192C= (p.Val1064=) | |
| 19 | g.7125310G>T | CA505400174 | INSR | c.3231C>A (p.Val1077=) c.3195C>A (p.Val1065=) n.77C>A c.3306C>A (p.Val1102=) c.3270C>A (p.Val1090=) c.3228C>A (p.Val1076=) c.3192C>A (p.Val1064=) | gnomAD v4 |
| 19 | g.7125311A>C | CA403671029 | INSR | c.3230T>G (p.Val1077Gly) c.3194T>G (p.Val1065Gly) n.76T>G c.3305T>G (p.Val1102Gly) c.3269T>G (p.Val1090Gly) c.3227T>G (p.Val1076Gly) c.3191T>G (p.Val1064Gly) | |
| 19 | g.7125311A>G | CA403671030 | INSR | c.3230T>C (p.Val1077Ala) c.3194T>C (p.Val1065Ala) n.76T>C c.3305T>C (p.Val1102Ala) c.3269T>C (p.Val1090Ala) c.3227T>C (p.Val1076Ala) c.3191T>C (p.Val1064Ala) | |
| 19 | g.7125311A>T | CA403671028 | INSR | c.3230T>A (p.Val1077Asp) c.3194T>A (p.Val1065Asp) n.76T>A c.3305T>A (p.Val1102Asp) c.3269T>A (p.Val1090Asp) c.3227T>A (p.Val1076Asp) c.3191T>A (p.Val1064Asp) | |
| 19 | g.7125312C>A | CA403671031 | INSR | c.3229G>T (p.Val1077Phe) c.3193G>T (p.Val1065Phe) n.75G>T c.3304G>T (p.Val1102Phe) c.3268G>T (p.Val1090Phe) c.3226G>T (p.Val1076Phe) c.3190G>T (p.Val1064Phe) | |
| 19 | g.7125312C>G | CA403671032 | INSR | c.3229G>C (p.Val1077Leu) c.3193G>C (p.Val1065Leu) n.75G>C c.3304G>C (p.Val1102Leu) c.3268G>C (p.Val1090Leu) c.3226G>C (p.Val1076Leu) c.3190G>C (p.Val1064Leu) | |
| 19 | g.7125312C>T | CA403671033 | INSR | c.3229G>A (p.Val1077Ile) c.3193G>A (p.Val1065Ile) n.75G>A c.3304G>A (p.Val1102Ile) c.3268G>A (p.Val1090Ile) c.3226G>A (p.Val1076Ile) c.3190G>A (p.Val1064Ile) | |
| 19 | g.7125315_7125339del | CA645613085 | INSR | c.3205_3229del (p.Ile1069SerfsTer2) c.3169_3193del (p.Ile1057SerfsTer2) n.51_75del c.3280_3304del (p.Ile1094SerfsTer2) c.3244_3268del (p.Ile1082SerfsTer2) c.3202_3226del (p.Ile1068SerfsTer2) c.3166_3190del (p.Ile1056SerfsTer2) | COSMIC COSMIC |
| 19 | g.7125313C>A | CA505400178 | INSR | c.3228G>T (p.Ser1076=) c.3192G>T (p.Ser1064=) n.74G>T c.3303G>T (p.Ser1101=) c.3267G>T (p.Ser1089=) c.3225G>T (p.Ser1075=) c.3189G>T (p.Ser1063=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7125313C= | CA2320767912 | INSR | c.3228G= (p.Ser1076=) c.3192G= (p.Ser1064=) n.74G= c.3303G= (p.Ser1101=) c.3267G= (p.Ser1089=) c.3225G= (p.Ser1075=) c.3189G= (p.Ser1063=) | |
| 19 | g.7125313C>G | CA505400177 | INSR | c.3228G>C (p.Ser1076=) c.3192G>C (p.Ser1064=) n.74G>C c.3303G>C (p.Ser1101=) c.3267G>C (p.Ser1089=) c.3225G>C (p.Ser1075=) c.3189G>C (p.Ser1063=) | gnomAD v4 |
| 19 | g.7125313C>T | CA9135331 | INSR | c.3228G>A (p.Ser1076=) c.3192G>A (p.Ser1064=) n.74G>A c.3303G>A (p.Ser1101=) c.3267G>A (p.Ser1089=) c.3225G>A (p.Ser1075=) c.3189G>A (p.Ser1063=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7125314G>A | CA403671034 | INSR | c.3227C>T (p.Ser1076Leu) c.3191C>T (p.Ser1064Leu) n.73C>T c.3302C>T (p.Ser1101Leu) c.3266C>T (p.Ser1089Leu) c.3224C>T (p.Ser1075Leu) c.3188C>T (p.Ser1063Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7125314G>C | CA403671035 | INSR | c.3227C>G (p.Ser1076Trp) c.3191C>G (p.Ser1064Trp) n.73C>G c.3302C>G (p.Ser1101Trp) c.3266C>G (p.Ser1089Trp) c.3224C>G (p.Ser1075Trp) c.3188C>G (p.Ser1063Trp) | |
| 19 | g.7125314G= | CA2320767913 | INSR | c.3227C= (p.Ser1076=) c.3191C= (p.Ser1064=) n.73C= c.3302C= (p.Ser1101=) c.3266C= (p.Ser1089=) c.3224C= (p.Ser1075=) c.3188C= (p.Ser1063=) | |
| 19 | g.7125314G>T | CA403671036 | INSR | c.3227C>A (p.Ser1076Ter) c.3191C>A (p.Ser1064Ter) n.73C>A c.3302C>A (p.Ser1101Ter) c.3266C>A (p.Ser1089Ter) c.3224C>A (p.Ser1075Ter) c.3188C>A (p.Ser1063Ter) | |
| 19 | g.7125315A>C | CA403671037 | INSR | c.3226T>G (p.Ser1076Ala) c.3190T>G (p.Ser1064Ala) n.72T>G c.3301T>G (p.Ser1101Ala) c.3265T>G (p.Ser1089Ala) c.3223T>G (p.Ser1075Ala) c.3187T>G (p.Ser1063Ala) | |
| 19 | g.7125315A>G | CA403671038 | INSR | c.3226T>C (p.Ser1076Pro) c.3190T>C (p.Ser1064Pro) n.72T>C c.3301T>C (p.Ser1101Pro) c.3265T>C (p.Ser1089Pro) c.3223T>C (p.Ser1075Pro) c.3187T>C (p.Ser1063Pro) | |
| 19 | g.7125315A>T | CA403671039 | INSR | c.3226T>A (p.Ser1076Thr) c.3190T>A (p.Ser1064Thr) n.72T>A c.3301T>A (p.Ser1101Thr) c.3265T>A (p.Ser1089Thr) c.3223T>A (p.Ser1075Thr) c.3187T>A (p.Ser1063Thr) | |
| 19 | g.7125316G>A | CA505400181 | INSR | c.3225C>T (p.Ala1075=) c.3189C>T (p.Ala1063=) n.71C>T c.3300C>T (p.Ala1100=) c.3264C>T (p.Ala1088=) c.3222C>T (p.Ala1074=) c.3186C>T (p.Ala1062=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7125316G>C | CA505400179 | INSR | c.3225C>G (p.Ala1075=) c.3189C>G (p.Ala1063=) n.71C>G c.3300C>G (p.Ala1100=) c.3264C>G (p.Ala1088=) c.3222C>G (p.Ala1074=) c.3186C>G (p.Ala1062=) | |
| 19 | g.7125316G= | CA2320767914 | INSR | c.3225C= (p.Ala1075=) c.3189C= (p.Ala1063=) n.71C= c.3300C= (p.Ala1100=) c.3264C= (p.Ala1088=) c.3222C= (p.Ala1074=) c.3186C= (p.Ala1062=) | |
| 19 | g.7125316G>T | CA505400180 | INSR | c.3225C>A (p.Ala1075=) c.3189C>A (p.Ala1063=) n.71C>A c.3300C>A (p.Ala1100=) c.3264C>A (p.Ala1088=) c.3222C>A (p.Ala1074=) c.3186C>A (p.Ala1062=) | |
| 19 | g.7125317G>A | CA403671040 | INSR | c.3224C>T (p.Ala1075Val) c.3188C>T (p.Ala1063Val) n.70C>T c.3299C>T (p.Ala1100Val) c.3263C>T (p.Ala1088Val) c.3221C>T (p.Ala1074Val) c.3185C>T (p.Ala1062Val) | |
| 19 | g.7125317G>C | CA403671041 | INSR | c.3224C>G (p.Ala1075Gly) c.3188C>G (p.Ala1063Gly) n.70C>G c.3299C>G (p.Ala1100Gly) c.3263C>G (p.Ala1088Gly) c.3221C>G (p.Ala1074Gly) c.3185C>G (p.Ala1062Gly) | |
| 19 | g.7125317G>T | CA403671042 | INSR | c.3224C>A (p.Ala1075Asp) c.3188C>A (p.Ala1063Asp) n.70C>A c.3299C>A (p.Ala1100Asp) c.3263C>A (p.Ala1088Asp) c.3221C>A (p.Ala1074Asp) c.3185C>A (p.Ala1062Asp) | |
| 19 | g.7125318C>A | CA403671045 | INSR | c.3223G>T (p.Ala1075Ser) c.3187G>T (p.Ala1063Ser) n.69G>T c.3298G>T (p.Ala1100Ser) c.3262G>T (p.Ala1088Ser) c.3220G>T (p.Ala1074Ser) c.3184G>T (p.Ala1062Ser) | |
| 19 | g.7125318C>G | CA403671044 | INSR | c.3223G>C (p.Ala1075Pro) c.3187G>C (p.Ala1063Pro) n.69G>C c.3298G>C (p.Ala1100Pro) c.3262G>C (p.Ala1088Pro) c.3220G>C (p.Ala1074Pro) c.3184G>C (p.Ala1062Pro) | |
| 19 | g.7125318C>T | CA403671043 | INSR | c.3223G>A (p.Ala1075Thr) c.3187G>A (p.Ala1063Thr) n.69G>A c.3298G>A (p.Ala1100Thr) c.3262G>A (p.Ala1088Thr) c.3220G>A (p.Ala1074Thr) c.3184G>A (p.Ala1062Thr) | gnomAD v4 |
| 19 | g.7125319C>A | CA403671046 | INSR | c.3222G>T (p.Glu1074Asp) c.3186G>T (p.Glu1062Asp) n.68G>T c.3297G>T (p.Glu1099Asp) c.3261G>T (p.Glu1087Asp) c.3219G>T (p.Glu1073Asp) c.3183G>T (p.Glu1061Asp) | |
| 19 | g.7125319C= | CA2320767915 | INSR | c.3222G= (p.Glu1074=) c.3186G= (p.Glu1062=) n.68G= c.3297G= (p.Glu1099=) c.3261G= (p.Glu1087=) c.3219G= (p.Glu1073=) c.3183G= (p.Glu1061=) | |
| 19 | g.7125319C>G | CA403671047 | INSR | c.3222G>C (p.Glu1074Asp) c.3186G>C (p.Glu1062Asp) n.68G>C c.3297G>C (p.Glu1099Asp) c.3261G>C (p.Glu1087Asp) c.3219G>C (p.Glu1073Asp) c.3183G>C (p.Glu1061Asp) | |
| 19 | g.7125319C>T | CA505400182 | INSR | c.3222G>A (p.Glu1074=) c.3186G>A (p.Glu1062=) n.68G>A c.3297G>A (p.Glu1099=) c.3261G>A (p.Glu1087=) c.3219G>A (p.Glu1073=) c.3183G>A (p.Glu1061=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7125319_7125321delinsTTT | CA2695228018 | INSR | c.3220_3222delinsAAA (p.Glu1074Lys) c.3184_3186delinsAAA (p.Glu1062Lys) n.66_68delinsAAA c.3295_3297delinsAAA (p.Glu1099Lys) c.3259_3261delinsAAA (p.Glu1087Lys) c.3217_3219delinsAAA (p.Glu1073Lys) c.3181_3183delinsAAA (p.Glu1061Lys) | |
| 19 | g.7125320T>A | CA403671048 | INSR | c.3221A>T (p.Glu1074Val) c.3185A>T (p.Glu1062Val) n.67A>T c.3296A>T (p.Glu1099Val) c.3260A>T (p.Glu1087Val) c.3218A>T (p.Glu1073Val) c.3182A>T (p.Glu1061Val) | |
| 19 | g.7125320T>C | CA403671049 | INSR | c.3221A>G (p.Glu1074Gly) c.3185A>G (p.Glu1062Gly) n.67A>G c.3296A>G (p.Glu1099Gly) c.3260A>G (p.Glu1087Gly) c.3218A>G (p.Glu1073Gly) c.3182A>G (p.Glu1061Gly) | |
| 19 | g.7125320T>G | CA403671050 | INSR | c.3221A>C (p.Glu1074Ala) c.3185A>C (p.Glu1062Ala) n.67A>C c.3296A>C (p.Glu1099Ala) c.3260A>C (p.Glu1087Ala) c.3218A>C (p.Glu1073Ala) c.3182A>C (p.Glu1061Ala) | |
| 19 | g.7125321C>A | CA403671051 | INSR | c.3220G>T (p.Glu1074Ter) c.3184G>T (p.Glu1062Ter) n.66G>T c.3295G>T (p.Glu1099Ter) c.3259G>T (p.Glu1087Ter) c.3217G>T (p.Glu1073Ter) c.3181G>T (p.Glu1061Ter) | COSMIC COSMIC |
| 19 | g.7125321C>G | CA403671052 | INSR | c.3220G>C (p.Glu1074Gln) c.3184G>C (p.Glu1062Gln) n.66G>C c.3295G>C (p.Glu1099Gln) c.3259G>C (p.Glu1087Gln) c.3217G>C (p.Glu1073Gln) c.3181G>C (p.Glu1061Gln) | |
| 19 | g.7125321C>T | CA403671053 | INSR | c.3220G>A (p.Glu1074Lys) c.3184G>A (p.Glu1062Lys) n.66G>A c.3295G>A (p.Glu1099Lys) c.3259G>A (p.Glu1087Lys) c.3217G>A (p.Glu1073Lys) c.3181G>A (p.Glu1061Lys) | |
| 19 | g.7125322A= | CA2320767916 | INSR | c.3219T= (p.Asn1073=) c.3183T= (p.Asn1061=) n.65T= c.3294T= (p.Asn1098=) c.3258T= (p.Asn1086=) c.3216T= (p.Asn1072=) c.3180T= (p.Asn1060=) | |
| 19 | g.7125322A>C | CA403671054 | INSR | c.3219T>G (p.Asn1073Lys) c.3183T>G (p.Asn1061Lys) n.65T>G c.3294T>G (p.Asn1098Lys) c.3258T>G (p.Asn1086Lys) c.3216T>G (p.Asn1072Lys) c.3180T>G (p.Asn1060Lys) | |
| 19 | g.7125322A>G | CA9135332 | INSR | c.3219T>C (p.Asn1073=) c.3183T>C (p.Asn1061=) n.65T>C c.3294T>C (p.Asn1098=) c.3258T>C (p.Asn1086=) c.3216T>C (p.Asn1072=) c.3180T>C (p.Asn1060=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7125322A>T | CA403671055 | INSR | c.3219T>A (p.Asn1073Lys) c.3183T>A (p.Asn1061Lys) n.65T>A c.3294T>A (p.Asn1098Lys) c.3258T>A (p.Asn1086Lys) c.3216T>A (p.Asn1072Lys) c.3180T>A (p.Asn1060Lys) | |
| 19 | g.7125323T>A | CA403671056 | INSR | c.3218A>T (p.Asn1073Ile) c.3182A>T (p.Asn1061Ile) n.64A>T c.3293A>T (p.Asn1098Ile) c.3257A>T (p.Asn1086Ile) c.3215A>T (p.Asn1072Ile) c.3179A>T (p.Asn1060Ile) | |
| 19 | g.7125323T>C | CA9135333 | INSR | c.3218A>G (p.Asn1073Ser) c.3182A>G (p.Asn1061Ser) n.64A>G c.3293A>G (p.Asn1098Ser) c.3257A>G (p.Asn1086Ser) c.3215A>G (p.Asn1072Ser) c.3179A>G (p.Asn1060Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7125323T>G | CA403671057 | INSR | c.3218A>C (p.Asn1073Thr) c.3182A>C (p.Asn1061Thr) n.64A>C c.3293A>C (p.Asn1098Thr) c.3257A>C (p.Asn1086Thr) c.3215A>C (p.Asn1072Thr) c.3179A>C (p.Asn1060Thr) | |
| 19 | g.7125323T= | CA2320767917 | INSR | c.3218A= (p.Asn1073=) c.3182A= (p.Asn1061=) n.64A= c.3293A= (p.Asn1098=) c.3257A= (p.Asn1086=) c.3215A= (p.Asn1072=) c.3179A= (p.Asn1060=) | |
| 19 | g.7125324T>A | CA403671060 | INSR | c.3217A>T (p.Asn1073Tyr) c.3181A>T (p.Asn1061Tyr) n.63A>T c.3292A>T (p.Asn1098Tyr) c.3256A>T (p.Asn1086Tyr) c.3214A>T (p.Asn1072Tyr) c.3178A>T (p.Asn1060Tyr) | |
| 19 | g.7125324T>C | CA403671059 | INSR | c.3217A>G (p.Asn1073Asp) c.3181A>G (p.Asn1061Asp) n.63A>G c.3292A>G (p.Asn1098Asp) c.3256A>G (p.Asn1086Asp) c.3214A>G (p.Asn1072Asp) c.3178A>G (p.Asn1060Asp) | |
| 19 | g.7125324T>G | CA403671058 | INSR | c.3217A>C (p.Asn1073His) c.3181A>C (p.Asn1061His) n.63A>C c.3292A>C (p.Asn1098His) c.3256A>C (p.Asn1086His) c.3214A>C (p.Asn1072His) c.3178A>C (p.Asn1060His) | |
| 19 | g.7125325G>A | CA505400185 | INSR | c.3216C>T (p.Leu1072=) c.3180C>T (p.Leu1060=) n.62C>T c.3291C>T (p.Leu1097=) c.3255C>T (p.Leu1085=) c.3213C>T (p.Leu1071=) c.3177C>T (p.Leu1059=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7125325G>C | CA505400184 | INSR | c.3216C>G (p.Leu1072=) c.3180C>G (p.Leu1060=) n.62C>G c.3291C>G (p.Leu1097=) c.3255C>G (p.Leu1085=) c.3213C>G (p.Leu1071=) c.3177C>G (p.Leu1059=) | |
| 19 | g.7125325G= | CA2320767918 | INSR | c.3216C= (p.Leu1072=) c.3180C= (p.Leu1060=) n.62C= c.3291C= (p.Leu1097=) c.3255C= (p.Leu1085=) c.3213C= (p.Leu1071=) c.3177C= (p.Leu1059=) | |
| 19 | g.7125325G>T | CA505400183 | INSR | c.3216C>A (p.Leu1072=) c.3180C>A (p.Leu1060=) n.62C>A c.3291C>A (p.Leu1097=) c.3255C>A (p.Leu1085=) c.3213C>A (p.Leu1071=) c.3177C>A (p.Leu1059=) | |
| 19 | g.7125326A>C | CA403671061 | INSR | c.3215T>G (p.Leu1072Arg) c.3179T>G (p.Leu1060Arg) n.61T>G c.3290T>G (p.Leu1097Arg) c.3254T>G (p.Leu1085Arg) c.3212T>G (p.Leu1071Arg) c.3176T>G (p.Leu1059Arg) | |
| 19 | g.7125326A>G | CA403671062 | INSR | c.3215T>C (p.Leu1072Pro) c.3179T>C (p.Leu1060Pro) n.61T>C c.3290T>C (p.Leu1097Pro) c.3254T>C (p.Leu1085Pro) c.3212T>C (p.Leu1071Pro) c.3176T>C (p.Leu1059Pro) | |
| 19 | g.7125326A>T | CA403671063 | INSR | c.3215T>A (p.Leu1072His) c.3179T>A (p.Leu1060His) n.61T>A c.3290T>A (p.Leu1097His) c.3254T>A (p.Leu1085His) c.3212T>A (p.Leu1071His) c.3176T>A (p.Leu1059His) | |
| 19 | g.7125327G>A | CA403671064 | INSR | c.3214C>T (p.Leu1072Phe) c.3178C>T (p.Leu1060Phe) n.60C>T c.3289C>T (p.Leu1097Phe) c.3253C>T (p.Leu1085Phe) c.3211C>T (p.Leu1071Phe) c.3175C>T (p.Leu1059Phe) | |
| 19 | g.7125327G>C | CA403671065 | INSR | c.3214C>G (p.Leu1072Val) c.3178C>G (p.Leu1060Val) n.60C>G c.3289C>G (p.Leu1097Val) c.3253C>G (p.Leu1085Val) c.3211C>G (p.Leu1071Val) c.3175C>G (p.Leu1059Val) | |
| 19 | g.7125327G>T | CA403671066 | INSR | c.3214C>A (p.Leu1072Ile) c.3178C>A (p.Leu1060Ile) n.60C>A c.3289C>A (p.Leu1097Ile) c.3253C>A (p.Leu1085Ile) c.3211C>A (p.Leu1071Ile) c.3175C>A (p.Leu1059Ile) | |
| 19 | g.7125328G>A | CA505400186 | INSR | c.3213C>T (p.Phe1071=) c.3177C>T (p.Phe1059=) n.59C>T c.3288C>T (p.Phe1096=) c.3252C>T (p.Phe1084=) c.3210C>T (p.Phe1070=) c.3174C>T (p.Phe1058=) | |
| 19 | g.7125328G>C | CA403671067 | INSR | c.3213C>G (p.Phe1071Leu) c.3177C>G (p.Phe1059Leu) n.59C>G c.3288C>G (p.Phe1096Leu) c.3252C>G (p.Phe1084Leu) c.3210C>G (p.Phe1070Leu) c.3174C>G (p.Phe1058Leu) | |
| 19 | g.7125328G>T | CA403671068 | INSR | c.3213C>A (p.Phe1071Leu) c.3177C>A (p.Phe1059Leu) n.59C>A c.3288C>A (p.Phe1096Leu) c.3252C>A (p.Phe1084Leu) c.3210C>A (p.Phe1070Leu) c.3174C>A (p.Phe1058Leu) | |
| 19 | g.7125329A>C | CA403671069 | INSR | c.3212T>G (p.Phe1071Cys) c.3176T>G (p.Phe1059Cys) n.58T>G c.3287T>G (p.Phe1096Cys) c.3251T>G (p.Phe1084Cys) c.3209T>G (p.Phe1070Cys) c.3173T>G (p.Phe1058Cys) | |
| 19 | g.7125329A>G | CA403671070 | INSR | c.3212T>C (p.Phe1071Ser) c.3176T>C (p.Phe1059Ser) n.58T>C c.3287T>C (p.Phe1096Ser) c.3251T>C (p.Phe1084Ser) c.3209T>C (p.Phe1070Ser) c.3173T>C (p.Phe1058Ser) | |
| 19 | g.7125329A>T | CA403671071 | INSR | c.3212T>A (p.Phe1071Tyr) c.3176T>A (p.Phe1059Tyr) n.58T>A c.3287T>A (p.Phe1096Tyr) c.3251T>A (p.Phe1084Tyr) c.3209T>A (p.Phe1070Tyr) c.3173T>A (p.Phe1058Tyr) | |
| 19 | g.7125330A>C | CA403671072 | INSR | c.3211T>G (p.Phe1071Val) c.3175T>G (p.Phe1059Val) n.57T>G c.3286T>G (p.Phe1096Val) c.3250T>G (p.Phe1084Val) c.3208T>G (p.Phe1070Val) c.3172T>G (p.Phe1058Val) | |
| 19 | g.7125330A>G | CA403671073 | INSR | c.3211T>C (p.Phe1071Leu) c.3175T>C (p.Phe1059Leu) n.57T>C c.3286T>C (p.Phe1096Leu) c.3250T>C (p.Phe1084Leu) c.3208T>C (p.Phe1070Leu) c.3172T>C (p.Phe1058Leu) | |
| 19 | g.7125330A>T | CA403671074 | INSR | c.3211T>A (p.Phe1071Ile) c.3175T>A (p.Phe1059Ile) n.57T>A c.3286T>A (p.Phe1096Ile) c.3250T>A (p.Phe1084Ile) c.3208T>A (p.Phe1070Ile) c.3172T>A (p.Phe1058Ile) | |
| 19 | g.7125331C>A | CA403671076 | INSR | c.3210G>T (p.Glu1070Asp) c.3174G>T (p.Glu1058Asp) n.56G>T c.3285G>T (p.Glu1095Asp) c.3249G>T (p.Glu1083Asp) c.3207G>T (p.Glu1069Asp) c.3171G>T (p.Glu1057Asp) | |
| 19 | g.7125331C>G | CA403671075 | INSR | c.3210G>C (p.Glu1070Asp) c.3174G>C (p.Glu1058Asp) n.56G>C c.3285G>C (p.Glu1095Asp) c.3249G>C (p.Glu1083Asp) c.3207G>C (p.Glu1069Asp) c.3171G>C (p.Glu1057Asp) | |
| 19 | g.7125331C>T | CA505400187 | INSR | c.3210G>A (p.Glu1070=) c.3174G>A (p.Glu1058=) n.56G>A c.3285G>A (p.Glu1095=) c.3249G>A (p.Glu1083=) c.3207G>A (p.Glu1069=) c.3171G>A (p.Glu1057=) | gnomAD v4 |
| 19 | g.7125332T>A | CA403671077 | INSR | c.3209A>T (p.Glu1070Val) c.3173A>T (p.Glu1058Val) n.55A>T c.3284A>T (p.Glu1095Val) c.3248A>T (p.Glu1083Val) c.3206A>T (p.Glu1069Val) c.3170A>T (p.Glu1057Val) | |
| 19 | g.7125332T>C | CA403671078 | INSR | c.3209A>G (p.Glu1070Gly) c.3173A>G (p.Glu1058Gly) n.55A>G c.3284A>G (p.Glu1095Gly) c.3248A>G (p.Glu1083Gly) c.3206A>G (p.Glu1069Gly) c.3170A>G (p.Glu1057Gly) | |
| 19 | g.7125332T>G | CA403671079 | INSR | c.3209A>C (p.Glu1070Ala) c.3173A>C (p.Glu1058Ala) n.55A>C c.3284A>C (p.Glu1095Ala) c.3248A>C (p.Glu1083Ala) c.3206A>C (p.Glu1069Ala) c.3170A>C (p.Glu1057Ala) | |
| 19 | g.7125332_7125333delinsTC | CA2320767919 | INSR | c.3208_3209delinsGA (p.Glu1070=) c.3172_3173delinsGA (p.Glu1058=) n.54_55delinsGA c.3283_3284delinsGA (p.Glu1095=) c.3247_3248delinsGA (p.Glu1083=) c.3205_3206delinsGA (p.Glu1069=) c.3169_3170delinsGA (p.Glu1057=) | |
| 19 | g.7125333del | CA2320767920 | INSR | c.3208del (p.Glu1070SerfsTer9) c.3172del (p.Glu1058SerfsTer9) n.54del c.3283del (p.Glu1095SerfsTer9) c.3247del (p.Glu1083SerfsTer9) c.3205del (p.Glu1069SerfsTer9) c.3169del (p.Glu1057SerfsTer9) | dbSNP |
| 19 | g.7125333C>A | CA403671080 | INSR | c.3208G>T (p.Glu1070Ter) c.3172G>T (p.Glu1058Ter) n.54G>T c.3283G>T (p.Glu1095Ter) c.3247G>T (p.Glu1083Ter) c.3205G>T (p.Glu1069Ter) c.3169G>T (p.Glu1057Ter) | |
| 19 | g.7125333C>G | CA403671081 | INSR | c.3208G>C (p.Glu1070Gln) c.3172G>C (p.Glu1058Gln) n.54G>C c.3283G>C (p.Glu1095Gln) c.3247G>C (p.Glu1083Gln) c.3205G>C (p.Glu1069Gln) c.3169G>C (p.Glu1057Gln) | |
| 19 | g.7125333C>T | CA403671082 | INSR | c.3208G>A (p.Glu1070Lys) c.3172G>A (p.Glu1058Lys) n.54G>A c.3283G>A (p.Glu1095Lys) c.3247G>A (p.Glu1083Lys) c.3205G>A (p.Glu1069Lys) c.3169G>A (p.Glu1057Lys) | |
| 19 | g.7125334A>C | CA403671083 | INSR | c.3207T>G (p.Ile1069Met) c.3171T>G (p.Ile1057Met) n.53T>G c.3282T>G (p.Ile1094Met) c.3246T>G (p.Ile1082Met) c.3204T>G (p.Ile1068Met) c.3168T>G (p.Ile1056Met) | |
| 19 | g.7125334A>G | CA505400189 | INSR | c.3207T>C (p.Ile1069=) c.3171T>C (p.Ile1057=) n.53T>C c.3282T>C (p.Ile1094=) c.3246T>C (p.Ile1082=) c.3204T>C (p.Ile1068=) c.3168T>C (p.Ile1056=) | |
| 19 | g.7125334A>T | CA505400188 | INSR | c.3207T>A (p.Ile1069=) c.3171T>A (p.Ile1057=) n.53T>A c.3282T>A (p.Ile1094=) c.3246T>A (p.Ile1082=) c.3204T>A (p.Ile1068=) c.3168T>A (p.Ile1056=) | |
| 19 | g.7125335A= | CA2320767921 | INSR | c.3206T= (p.Ile1069=) c.3170T= (p.Ile1057=) n.52T= c.3281T= (p.Ile1094=) c.3245T= (p.Ile1082=) c.3203T= (p.Ile1068=) c.3167T= (p.Ile1056=) | |
| 19 | g.7125335A>C | CA403671084 | INSR | c.3206T>G (p.Ile1069Ser) c.3170T>G (p.Ile1057Ser) n.52T>G c.3281T>G (p.Ile1094Ser) c.3245T>G (p.Ile1082Ser) c.3203T>G (p.Ile1068Ser) c.3167T>G (p.Ile1056Ser) | |
| 19 | g.7125335A>G | CA9135334 | INSR | c.3206T>C (p.Ile1069Thr) c.3170T>C (p.Ile1057Thr) n.52T>C c.3281T>C (p.Ile1094Thr) c.3245T>C (p.Ile1082Thr) c.3203T>C (p.Ile1068Thr) c.3167T>C (p.Ile1056Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7125335A>T | CA403671085 | INSR | c.3206T>A (p.Ile1069Asn) c.3170T>A (p.Ile1057Asn) n.52T>A c.3281T>A (p.Ile1094Asn) c.3245T>A (p.Ile1082Asn) c.3203T>A (p.Ile1068Asn) c.3167T>A (p.Ile1056Asn) | |
| 19 | g.7125336T>A | CA403671086 | INSR | c.3205A>T (p.Ile1069Phe) c.3169A>T (p.Ile1057Phe) n.51A>T c.3280A>T (p.Ile1094Phe) c.3244A>T (p.Ile1082Phe) c.3202A>T (p.Ile1068Phe) c.3166A>T (p.Ile1056Phe) | |
| 19 | g.7125336T>C | CA403671087 | INSR | c.3205A>G (p.Ile1069Val) c.3169A>G (p.Ile1057Val) n.51A>G c.3280A>G (p.Ile1094Val) c.3244A>G (p.Ile1082Val) c.3202A>G (p.Ile1068Val) c.3166A>G (p.Ile1056Val) | |
| 19 | g.7125336T>G | CA403671088 | INSR | c.3205A>C (p.Ile1069Leu) c.3169A>C (p.Ile1057Leu) n.51A>C c.3280A>C (p.Ile1094Leu) c.3244A>C (p.Ile1082Leu) c.3202A>C (p.Ile1068Leu) c.3166A>C (p.Ile1056Leu) | |
| 19 | g.7125337C>A | CA505400192 | INSR | c.3204G>T (p.Arg1068=) c.3168G>T (p.Arg1056=) n.50G>T c.3279G>T (p.Arg1093=) c.3243G>T (p.Arg1081=) c.3201G>T (p.Arg1067=) c.3165G>T (p.Arg1055=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7125337C= | CA2320767922 | INSR | c.3204G= (p.Arg1068=) c.3168G= (p.Arg1056=) n.50G= c.3279G= (p.Arg1093=) c.3243G= (p.Arg1081=) c.3201G= (p.Arg1067=) c.3165G= (p.Arg1055=) | |
| 19 | g.7125337C>G | CA505400191 | INSR | c.3204G>C (p.Arg1068=) c.3168G>C (p.Arg1056=) n.50G>C c.3279G>C (p.Arg1093=) c.3243G>C (p.Arg1081=) c.3201G>C (p.Arg1067=) c.3165G>C (p.Arg1055=) | gnomAD v4 |
| 19 | g.7125337C>T | CA505400190 | INSR | c.3204G>A (p.Arg1068=) c.3168G>A (p.Arg1056=) n.50G>A c.3279G>A (p.Arg1093=) c.3243G>A (p.Arg1081=) c.3201G>A (p.Arg1067=) c.3165G>A (p.Arg1055=) | |
| 19 | g.7125338C>A | CA403671089 | INSR | c.3203G>T (p.Arg1068Leu) c.3167G>T (p.Arg1056Leu) n.49G>T c.3278G>T (p.Arg1093Leu) c.3242G>T (p.Arg1081Leu) c.3200G>T (p.Arg1067Leu) c.3164G>T (p.Arg1055Leu) | |
| 19 | g.7125338C= | CA2320767923 | INSR | c.3203G= (p.Arg1068=) c.3167G= (p.Arg1056=) n.49G= c.3278G= (p.Arg1093=) c.3242G= (p.Arg1081=) c.3200G= (p.Arg1067=) c.3164G= (p.Arg1055=) | |
| 19 | g.7125338C>G | CA403671090 | INSR | c.3203G>C (p.Arg1068Pro) c.3167G>C (p.Arg1056Pro) n.49G>C c.3278G>C (p.Arg1093Pro) c.3242G>C (p.Arg1081Pro) c.3200G>C (p.Arg1067Pro) c.3164G>C (p.Arg1055Pro) | |
| 19 | g.7125338C>T | CA9135335 | INSR | c.3203G>A (p.Arg1068Gln) c.3167G>A (p.Arg1056Gln) n.49G>A c.3278G>A (p.Arg1093Gln) c.3242G>A (p.Arg1081Gln) c.3200G>A (p.Arg1067Gln) c.3164G>A (p.Arg1055Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7125339G>A | CA403671091 | INSR | c.3202C>T (p.Arg1068Trp) c.3166C>T (p.Arg1056Trp) n.48C>T c.3277C>T (p.Arg1093Trp) c.3241C>T (p.Arg1081Trp) c.3199C>T (p.Arg1067Trp) c.3163C>T (p.Arg1055Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7125339G>C | CA403671092 | INSR | c.3202C>G (p.Arg1068Gly) c.3166C>G (p.Arg1056Gly) n.48C>G c.3277C>G (p.Arg1093Gly) c.3241C>G (p.Arg1081Gly) c.3199C>G (p.Arg1067Gly) c.3163C>G (p.Arg1055Gly) | dbSNP gnomAD v2 |
| 19 | g.7125339G= | CA2320767924 | INSR | c.3202C= (p.Arg1068=) c.3166C= (p.Arg1056=) n.48C= c.3277C= (p.Arg1093=) c.3241C= (p.Arg1081=) c.3199C= (p.Arg1067=) c.3163C= (p.Arg1055=) | |
| 19 | g.7125339G>T | CA9135336 | INSR | c.3202C>A (p.Arg1068=) c.3166C>A (p.Arg1056=) n.48C>A c.3277C>A (p.Arg1093=) c.3241C>A (p.Arg1081=) c.3199C>A (p.Arg1067=) c.3163C>A (p.Arg1055=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7125340C>A | CA403671093 | INSR | c.3201G>T (p.Glu1067Asp) c.3165G>T (p.Glu1055Asp) n.47G>T c.3276G>T (p.Glu1092Asp) c.3240G>T (p.Glu1080Asp) c.3198G>T (p.Glu1066Asp) c.3162G>T (p.Glu1054Asp) | |
| 19 | g.7125340C>G | CA403671094 | INSR | c.3201G>C (p.Glu1067Asp) c.3165G>C (p.Glu1055Asp) n.47G>C c.3276G>C (p.Glu1092Asp) c.3240G>C (p.Glu1080Asp) c.3198G>C (p.Glu1066Asp) c.3162G>C (p.Glu1054Asp) | |
| 19 | g.7125340C>T | CA505400193 | INSR | c.3201G>A (p.Glu1067=) c.3165G>A (p.Glu1055=) n.47G>A c.3276G>A (p.Glu1092=) c.3240G>A (p.Glu1080=) c.3198G>A (p.Glu1066=) c.3162G>A (p.Glu1054=) | |
| 19 | g.7125341T>A | CA403671095 | INSR | c.3200A>T (p.Glu1067Val) c.3164A>T (p.Glu1055Val) n.46A>T c.3275A>T (p.Glu1092Val) c.3239A>T (p.Glu1080Val) c.3197A>T (p.Glu1066Val) c.3161A>T (p.Glu1054Val) | |
| 19 | g.7125341T>C | CA403671096 | INSR | c.3200A>G (p.Glu1067Gly) c.3164A>G (p.Glu1055Gly) n.46A>G c.3275A>G (p.Glu1092Gly) c.3239A>G (p.Glu1080Gly) c.3197A>G (p.Glu1066Gly) c.3161A>G (p.Glu1054Gly) | |
| 19 | g.7125341T>G | CA403671097 | INSR | c.3200A>C (p.Glu1067Ala) c.3164A>C (p.Glu1055Ala) n.46A>C c.3275A>C (p.Glu1092Ala) c.3239A>C (p.Glu1080Ala) c.3197A>C (p.Glu1066Ala) c.3161A>C (p.Glu1054Ala) | |
| 19 | g.7125342C>A | CA403671098 | INSR | c.3199G>T (p.Glu1067Ter) c.3163G>T (p.Glu1055Ter) n.45G>T c.3274G>T (p.Glu1092Ter) c.3238G>T (p.Glu1080Ter) c.3196G>T (p.Glu1066Ter) c.3160G>T (p.Glu1054Ter) | |
| 19 | g.7125342C>G | CA403671099 | INSR | c.3199G>C (p.Glu1067Gln) c.3163G>C (p.Glu1055Gln) n.45G>C c.3274G>C (p.Glu1092Gln) c.3238G>C (p.Glu1080Gln) c.3196G>C (p.Glu1066Gln) c.3160G>C (p.Glu1054Gln) | |
| 19 | g.7125342C>T | CA403671100 | INSR | c.3199G>A (p.Glu1067Lys) c.3163G>A (p.Glu1055Lys) n.45G>A c.3274G>A (p.Glu1092Lys) c.3238G>A (p.Glu1080Lys) c.3196G>A (p.Glu1066Lys) c.3160G>A (p.Glu1054Lys) | |
| 19 | g.7125343T>A | CA505400196 | INSR | c.3198A>T (p.Arg1066=) c.3162A>T (p.Arg1054=) n.44A>T c.3273A>T (p.Arg1091=) c.3237A>T (p.Arg1079=) c.3195A>T (p.Arg1065=) c.3159A>T (p.Arg1053=) | |
| 19 | g.7125343T>C | CA505400195 | INSR | c.3198A>G (p.Arg1066=) c.3162A>G (p.Arg1054=) n.44A>G c.3273A>G (p.Arg1091=) c.3237A>G (p.Arg1079=) c.3195A>G (p.Arg1065=) c.3159A>G (p.Arg1053=) | |
| 19 | g.7125343T>G | CA505400194 | INSR | c.3198A>C (p.Arg1066=) c.3162A>C (p.Arg1054=) n.44A>C c.3273A>C (p.Arg1091=) c.3237A>C (p.Arg1079=) c.3195A>C (p.Arg1065=) c.3159A>C (p.Arg1053=) | |
| 19 | g.7125344C>A | CA403671101 | INSR | c.3197G>T (p.Arg1066Leu) c.3161G>T (p.Arg1054Leu) n.43G>T c.3272G>T (p.Arg1091Leu) c.3236G>T (p.Arg1079Leu) c.3194G>T (p.Arg1065Leu) c.3158G>T (p.Arg1053Leu) | |
| 19 | g.7125344C= | CA2320767925 | INSR | c.3197G= (p.Arg1066=) c.3161G= (p.Arg1054=) n.43G= c.3272G= (p.Arg1091=) c.3236G= (p.Arg1079=) c.3194G= (p.Arg1065=) c.3158G= (p.Arg1053=) | |
| 19 | g.7125344C>G | CA403671102 | INSR | c.3197G>C (p.Arg1066Pro) c.3161G>C (p.Arg1054Pro) n.43G>C c.3272G>C (p.Arg1091Pro) c.3236G>C (p.Arg1079Pro) c.3194G>C (p.Arg1065Pro) c.3158G>C (p.Arg1053Pro) | |
| 19 | g.7125344C>T | CA9135337 | INSR | c.3197G>A (p.Arg1066Gln) c.3161G>A (p.Arg1054Gln) n.43G>A c.3272G>A (p.Arg1091Gln) c.3236G>A (p.Arg1079Gln) c.3194G>A (p.Arg1065Gln) c.3158G>A (p.Arg1053Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7125345G>A | CA403671104 | INSR | c.3196C>T (p.Arg1066Ter) c.3160C>T (p.Arg1054Ter) n.42C>T c.3271C>T (p.Arg1091Ter) c.3235C>T (p.Arg1079Ter) c.3193C>T (p.Arg1065Ter) c.3157C>T (p.Arg1053Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7125345G>C | CA403671103 | INSR | c.3196C>G (p.Arg1066Gly) c.3160C>G (p.Arg1054Gly) n.42C>G c.3271C>G (p.Arg1091Gly) c.3235C>G (p.Arg1079Gly) c.3193C>G (p.Arg1065Gly) c.3157C>G (p.Arg1053Gly) | dbSNP |
| 19 | g.7125345G= | CA2320767926 | INSR | c.3196C= (p.Arg1066=) c.3160C= (p.Arg1054=) n.42C= c.3271C= (p.Arg1091=) c.3235C= (p.Arg1079=) c.3193C= (p.Arg1065=) c.3157C= (p.Arg1053=) | |
| 19 | g.7125345G>T | CA505400197 | INSR | c.3196C>A (p.Arg1066=) c.3160C>A (p.Arg1054=) n.42C>A c.3271C>A (p.Arg1091=) c.3235C>A (p.Arg1079=) c.3193C>A (p.Arg1065=) c.3157C>A (p.Arg1053=) | |
| 19 | g.7125346G>A | CA505400200 | INSR | c.3195C>T (p.Leu1065=) c.3159C>T (p.Leu1053=) n.41C>T c.3270C>T (p.Leu1090=) c.3234C>T (p.Leu1078=) c.3192C>T (p.Leu1064=) c.3156C>T (p.Leu1052=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7125346G>C | CA505400199 | INSR | c.3195C>G (p.Leu1065=) c.3159C>G (p.Leu1053=) n.41C>G c.3270C>G (p.Leu1090=) c.3234C>G (p.Leu1078=) c.3192C>G (p.Leu1064=) c.3156C>G (p.Leu1052=) | gnomAD v3 gnomAD v4 |
| 19 | g.7125346G= | CA2320767927 | INSR | c.3195C= (p.Leu1065=) c.3159C= (p.Leu1053=) n.41C= c.3270C= (p.Leu1090=) c.3234C= (p.Leu1078=) c.3192C= (p.Leu1064=) c.3156C= (p.Leu1052=) | |
| 19 | g.7125346G>T | CA505400198 | INSR | c.3195C>A (p.Leu1065=) c.3159C>A (p.Leu1053=) n.41C>A c.3270C>A (p.Leu1090=) c.3234C>A (p.Leu1078=) c.3192C>A (p.Leu1064=) c.3156C>A (p.Leu1052=) | |
| 19 | g.7125347A= | CA2320767928 | INSR | c.3194T= (p.Leu1065=) c.3158T= (p.Leu1053=) n.40T= c.3269T= (p.Leu1090=) c.3233T= (p.Leu1078=) c.3191T= (p.Leu1064=) c.3155T= (p.Leu1052=) | |
| 19 | g.7125347A>C | CA403671105 | INSR | c.3194T>G (p.Leu1065Arg) c.3158T>G (p.Leu1053Arg) n.40T>G c.3269T>G (p.Leu1090Arg) c.3233T>G (p.Leu1078Arg) c.3191T>G (p.Leu1064Arg) c.3155T>G (p.Leu1052Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7125347A>G | CA403671106 | INSR | c.3194T>C (p.Leu1065Pro) c.3158T>C (p.Leu1053Pro) n.40T>C c.3269T>C (p.Leu1090Pro) c.3233T>C (p.Leu1078Pro) c.3191T>C (p.Leu1064Pro) c.3155T>C (p.Leu1052Pro) | |
| 19 | g.7125347A>T | CA403671107 | INSR | c.3194T>A (p.Leu1065His) c.3158T>A (p.Leu1053His) n.40T>A c.3269T>A (p.Leu1090His) c.3233T>A (p.Leu1078His) c.3191T>A (p.Leu1064His) c.3155T>A (p.Leu1052His) | |
| 19 | g.7125348G>A | CA403671108 | INSR | c.3193C>T (p.Leu1065Phe) c.3157C>T (p.Leu1053Phe) n.39C>T c.3268C>T (p.Leu1090Phe) c.3232C>T (p.Leu1078Phe) c.3190C>T (p.Leu1064Phe) c.3154C>T (p.Leu1052Phe) | |
| 19 | g.7125348G>C | CA240819 | INSR | c.3193C>G (p.Leu1065Val) c.3157C>G (p.Leu1053Val) n.39C>G c.3268C>G (p.Leu1090Val) c.3232C>G (p.Leu1078Val) c.3190C>G (p.Leu1064Val) c.3154C>G (p.Leu1052Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7125348G= | CA2320767929 | INSR | c.3193C= (p.Leu1065=) c.3157C= (p.Leu1053=) n.39C= c.3268C= (p.Leu1090=) c.3232C= (p.Leu1078=) c.3190C= (p.Leu1064=) c.3154C= (p.Leu1052=) | |
| 19 | g.7125348G>T | CA403671109 | INSR | c.3193C>A (p.Leu1065Ile) c.3157C>A (p.Leu1053Ile) n.39C>A c.3268C>A (p.Leu1090Ile) c.3232C>A (p.Leu1078Ile) c.3190C>A (p.Leu1064Ile) c.3154C>A (p.Leu1052Ile) | |
| 19 | g.7125349A= | CA2320767930 | INSR | c.3192T= (p.Ser1064=) c.3156T= (p.Ser1052=) n.38T= c.3267T= (p.Ser1089=) c.3231T= (p.Ser1077=) c.3189T= (p.Ser1063=) c.3153T= (p.Ser1051=) | |
| 19 | g.7125349A>C | CA403671110 | INSR | c.3192T>G (p.Ser1064Arg) c.3156T>G (p.Ser1052Arg) n.38T>G c.3267T>G (p.Ser1089Arg) c.3231T>G (p.Ser1077Arg) c.3189T>G (p.Ser1063Arg) c.3153T>G (p.Ser1051Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7125349A>G | CA505400201 | INSR | c.3192T>C (p.Ser1064=) c.3156T>C (p.Ser1052=) n.38T>C c.3267T>C (p.Ser1089=) c.3231T>C (p.Ser1077=) c.3189T>C (p.Ser1063=) c.3153T>C (p.Ser1051=) | |
| 19 | g.7125349A>T | CA403671111 | INSR | c.3192T>A (p.Ser1064Arg) c.3156T>A (p.Ser1052Arg) n.38T>A c.3267T>A (p.Ser1089Arg) c.3231T>A (p.Ser1077Arg) c.3189T>A (p.Ser1063Arg) c.3153T>A (p.Ser1051Arg) | |
| 19 | g.7125350C>A | CA403671112 | INSR | c.3191G>T (p.Ser1064Ile) c.3155G>T (p.Ser1052Ile) n.37G>T c.3266G>T (p.Ser1089Ile) c.3230G>T (p.Ser1077Ile) c.3188G>T (p.Ser1063Ile) c.3152G>T (p.Ser1051Ile) | |
| 19 | g.7125350C= | CA2320767931 | INSR | c.3191G= (p.Ser1064=) c.3155G= (p.Ser1052=) n.37G= c.3266G= (p.Ser1089=) c.3230G= (p.Ser1077=) c.3188G= (p.Ser1063=) c.3152G= (p.Ser1051=) | |
| 19 | g.7125350C>G | CA403671113 | INSR | c.3191G>C (p.Ser1064Thr) c.3155G>C (p.Ser1052Thr) n.37G>C c.3266G>C (p.Ser1089Thr) c.3230G>C (p.Ser1077Thr) c.3188G>C (p.Ser1063Thr) c.3152G>C (p.Ser1051Thr) | |
| 19 | g.7125350C>T | CA304873334 | INSR | c.3191G>A (p.Ser1064Asn) c.3155G>A (p.Ser1052Asn) n.37G>A c.3266G>A (p.Ser1089Asn) c.3230G>A (p.Ser1077Asn) c.3188G>A (p.Ser1063Asn) c.3152G>A (p.Ser1051Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7125351T>A | CA403671115 | INSR | c.3190A>T (p.Ser1064Cys) c.3154A>T (p.Ser1052Cys) n.36A>T c.3265A>T (p.Ser1089Cys) c.3229A>T (p.Ser1077Cys) c.3187A>T (p.Ser1063Cys) c.3151A>T (p.Ser1051Cys) | |
| 19 | g.7125351T>C | CA403671116 | INSR | c.3190A>G (p.Ser1064Gly) c.3154A>G (p.Ser1052Gly) n.36A>G c.3265A>G (p.Ser1089Gly) c.3229A>G (p.Ser1077Gly) c.3187A>G (p.Ser1063Gly) c.3151A>G (p.Ser1051Gly) | gnomAD v4 |
| 19 | g.7125351T>G | CA403671114 | INSR | c.3190A>C (p.Ser1064Arg) c.3154A>C (p.Ser1052Arg) n.36A>C c.3265A>C (p.Ser1089Arg) c.3229A>C (p.Ser1077Arg) c.3187A>C (p.Ser1063Arg) c.3151A>C (p.Ser1051Arg) | |
| 19 | g.7125352G>A | CA505400204 | INSR | c.3189C>T (p.Ala1063=) c.3153C>T (p.Ala1051=) n.35C>T c.3264C>T (p.Ala1088=) c.3228C>T (p.Ala1076=) c.3186C>T (p.Ala1062=) c.3150C>T (p.Ala1050=) | gnomAD v4 |
| 19 | g.7125352G>C | CA505400203 | INSR | c.3189C>G (p.Ala1063=) c.3153C>G (p.Ala1051=) n.35C>G c.3264C>G (p.Ala1088=) c.3228C>G (p.Ala1076=) c.3186C>G (p.Ala1062=) c.3150C>G (p.Ala1050=) | |
| 19 | g.7125352G>T | CA505400202 | INSR | c.3189C>A (p.Ala1063=) c.3153C>A (p.Ala1051=) n.35C>A c.3264C>A (p.Ala1088=) c.3228C>A (p.Ala1076=) c.3186C>A (p.Ala1062=) c.3150C>A (p.Ala1050=) | |
| 19 | g.7125353G>A | CA403671117 | INSR | c.3188C>T (p.Ala1063Val) c.3152C>T (p.Ala1051Val) n.34C>T c.3263C>T (p.Ala1088Val) c.3227C>T (p.Ala1076Val) c.3185C>T (p.Ala1062Val) c.3149C>T (p.Ala1050Val) | dbSNP |
| 19 | g.7125353G>C | CA403671118 | INSR | c.3188C>G (p.Ala1063Gly) c.3152C>G (p.Ala1051Gly) n.34C>G c.3263C>G (p.Ala1088Gly) c.3227C>G (p.Ala1076Gly) c.3185C>G (p.Ala1062Gly) c.3149C>G (p.Ala1050Gly) | |
| 19 | g.7125353G>T | CA403671119 | INSR | c.3188C>A (p.Ala1063Asp) c.3152C>A (p.Ala1051Asp) n.34C>A c.3263C>A (p.Ala1088Asp) c.3227C>A (p.Ala1076Asp) c.3185C>A (p.Ala1062Asp) c.3149C>A (p.Ala1050Asp) | |
| 19 | g.7125354C>A | CA9135339 | INSR | c.3187G>T (p.Ala1063Ser) c.3151G>T (p.Ala1051Ser) n.33G>T c.3262G>T (p.Ala1088Ser) c.3226G>T (p.Ala1076Ser) c.3184G>T (p.Ala1062Ser) c.3148G>T (p.Ala1050Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7125354C= | CA2320767932 | INSR | c.3187G= (p.Ala1063=) c.3151G= (p.Ala1051=) n.33G= c.3262G= (p.Ala1088=) c.3226G= (p.Ala1076=) c.3184G= (p.Ala1062=) c.3148G= (p.Ala1050=) | |
| 19 | g.7125354C>G | CA403671120 | INSR | c.3187G>C (p.Ala1063Pro) c.3151G>C (p.Ala1051Pro) n.33G>C c.3262G>C (p.Ala1088Pro) c.3226G>C (p.Ala1076Pro) c.3184G>C (p.Ala1062Pro) c.3148G>C (p.Ala1050Pro) | |
| 19 | g.7125354C>T | CA9135338 | INSR | c.3187G>A (p.Ala1063Thr) c.3151G>A (p.Ala1051Thr) n.33G>A c.3262G>A (p.Ala1088Thr) c.3226G>A (p.Ala1076Thr) c.3184G>A (p.Ala1062Thr) c.3148G>A (p.Ala1050Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7125355T>A | CA505400206 | INSR | c.3186A>T (p.Ser1062=) c.3150A>T (p.Ser1050=) n.32A>T c.3261A>T (p.Ser1087=) c.3225A>T (p.Ser1075=) c.3183A>T (p.Ser1061=) c.3147A>T (p.Ser1049=) | |
| 19 | g.7125355T>C | CA505400205 | INSR | c.3186A>G (p.Ser1062=) c.3150A>G (p.Ser1050=) n.32A>G c.3261A>G (p.Ser1087=) c.3225A>G (p.Ser1075=) c.3183A>G (p.Ser1061=) c.3147A>G (p.Ser1049=) | |
| 19 | g.7125355T>G | CA9135340 | INSR | c.3186A>C (p.Ser1062=) c.3150A>C (p.Ser1050=) n.32A>C c.3261A>C (p.Ser1087=) c.3225A>C (p.Ser1075=) c.3183A>C (p.Ser1061=) c.3147A>C (p.Ser1049=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7125355T= | CA2320767933 | INSR | c.3186A= (p.Ser1062=) c.3150A= (p.Ser1050=) n.32A= c.3261A= (p.Ser1087=) c.3225A= (p.Ser1075=) c.3183A= (p.Ser1061=) c.3147A= (p.Ser1049=) | |
| 19 | g.7125356G>A | CA403671121 | INSR | c.3185C>T (p.Ser1062Leu) c.3149C>T (p.Ser1050Leu) n.31C>T c.3260C>T (p.Ser1087Leu) c.3224C>T (p.Ser1075Leu) c.3182C>T (p.Ser1061Leu) c.3146C>T (p.Ser1049Leu) | dbSNP gnomAD v4 |
| 19 | g.7125356G>C | CA403671122 | INSR | c.3185C>G (p.Ser1062Ter) c.3149C>G (p.Ser1050Ter) n.31C>G c.3260C>G (p.Ser1087Ter) c.3224C>G (p.Ser1075Ter) c.3182C>G (p.Ser1061Ter) c.3146C>G (p.Ser1049Ter) | |
| 19 | g.7125356G>T | CA403671123 | INSR | c.3185C>A (p.Ser1062Ter) c.3149C>A (p.Ser1050Ter) n.31C>A c.3260C>A (p.Ser1087Ter) c.3224C>A (p.Ser1075Ter) c.3182C>A (p.Ser1061Ter) c.3146C>A (p.Ser1049Ter) | |
| 19 | g.7125357A>C | CA403671124 | INSR | c.3184T>G (p.Ser1062Ala) c.3148T>G (p.Ser1050Ala) n.30T>G c.3259T>G (p.Ser1087Ala) c.3223T>G (p.Ser1075Ala) c.3181T>G (p.Ser1061Ala) c.3145T>G (p.Ser1049Ala) | |
| 19 | g.7125357A>G | CA403671125 | INSR | c.3184T>C (p.Ser1062Pro) c.3148T>C (p.Ser1050Pro) n.30T>C c.3259T>C (p.Ser1087Pro) c.3223T>C (p.Ser1075Pro) c.3181T>C (p.Ser1061Pro) c.3145T>C (p.Ser1049Pro) | |
| 19 | g.7125357A>T | CA403671126 | INSR | c.3184T>A (p.Ser1062Thr) c.3148T>A (p.Ser1050Thr) n.30T>A c.3259T>A (p.Ser1087Thr) c.3223T>A (p.Ser1075Thr) c.3181T>A (p.Ser1061Thr) c.3145T>A (p.Ser1049Thr) | |
| 19 | g.7125358C>A | CA403671128 | INSR | c.3183G>T (p.Glu1061Asp) c.3147G>T (p.Glu1049Asp) n.29G>T c.3258G>T (p.Glu1086Asp) c.3222G>T (p.Glu1074Asp) c.3180G>T (p.Glu1060Asp) c.3144G>T (p.Glu1048Asp) | |
| 19 | g.7125358C= | CA2320767934 | INSR | c.3183G= (p.Glu1061=) c.3147G= (p.Glu1049=) n.29G= c.3258G= (p.Glu1086=) c.3222G= (p.Glu1074=) c.3180G= (p.Glu1060=) c.3144G= (p.Glu1048=) | |
| 19 | g.7125358C>G | CA403671127 | INSR | c.3183G>C (p.Glu1061Asp) c.3147G>C (p.Glu1049Asp) n.29G>C c.3258G>C (p.Glu1086Asp) c.3222G>C (p.Glu1074Asp) c.3180G>C (p.Glu1060Asp) c.3144G>C (p.Glu1048Asp) | |
| 19 | g.7125358C>T | CA9135341 | INSR | c.3183G>A (p.Glu1061=) c.3147G>A (p.Glu1049=) n.29G>A c.3258G>A (p.Glu1086=) c.3222G>A (p.Glu1074=) c.3180G>A (p.Glu1060=) c.3144G>A (p.Glu1048=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7125359T>A | CA403671129 | INSR | c.3182A>T (p.Glu1061Val) c.3146A>T (p.Glu1049Val) n.28A>T c.3257A>T (p.Glu1086Val) c.3221A>T (p.Glu1074Val) c.3179A>T (p.Glu1060Val) c.3143A>T (p.Glu1048Val) | |
| 19 | g.7125359T>C | CA403671130 | INSR | c.3182A>G (p.Glu1061Gly) c.3146A>G (p.Glu1049Gly) n.28A>G c.3257A>G (p.Glu1086Gly) c.3221A>G (p.Glu1074Gly) c.3179A>G (p.Glu1060Gly) c.3143A>G (p.Glu1048Gly) | |
| 19 | g.7125359T>G | CA403671131 | INSR | c.3182A>C (p.Glu1061Ala) c.3146A>C (p.Glu1049Ala) n.28A>C c.3257A>C (p.Glu1086Ala) c.3221A>C (p.Glu1074Ala) c.3179A>C (p.Glu1060Ala) c.3143A>C (p.Glu1048Ala) | |
| 19 | g.7125360C>A | CA403671132 | INSR | c.3181G>T (p.Glu1061Ter) c.3145G>T (p.Glu1049Ter) n.27G>T c.3256G>T (p.Glu1086Ter) c.3220G>T (p.Glu1074Ter) c.3178G>T (p.Glu1060Ter) c.3142G>T (p.Glu1048Ter) | |
| 19 | g.7125360C= | CA2320767935 | INSR | c.3181G= (p.Glu1061=) c.3145G= (p.Glu1049=) n.27G= c.3256G= (p.Glu1086=) c.3220G= (p.Glu1074=) c.3178G= (p.Glu1060=) c.3142G= (p.Glu1048=) | |
| 19 | g.7125360C>G | CA403671133 | INSR | c.3181G>C (p.Glu1061Gln) c.3145G>C (p.Glu1049Gln) n.27G>C c.3256G>C (p.Glu1086Gln) c.3220G>C (p.Glu1074Gln) c.3178G>C (p.Glu1060Gln) c.3142G>C (p.Glu1048Gln) | |
| 19 | g.7125360C>T | CA9135342 | INSR | c.3181G>A (p.Glu1061Lys) c.3145G>A (p.Glu1049Lys) n.27G>A c.3256G>A (p.Glu1086Lys) c.3220G>A (p.Glu1074Lys) c.3178G>A (p.Glu1060Lys) c.3142G>A (p.Glu1048Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7125361G>A | CA9135343 | INSR | c.3180C>T (p.Asn1060=) c.3144C>T (p.Asn1048=) n.26C>T c.3255C>T (p.Asn1085=) c.3219C>T (p.Asn1073=) c.3177C>T (p.Asn1059=) c.3141C>T (p.Asn1047=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7125361G>C | CA403671134 | INSR | c.3180C>G (p.Asn1060Lys) c.3144C>G (p.Asn1048Lys) n.26C>G c.3255C>G (p.Asn1085Lys) c.3219C>G (p.Asn1073Lys) c.3177C>G (p.Asn1059Lys) c.3141C>G (p.Asn1047Lys) | |
| 19 | g.7125361G= | CA2320767936 | INSR | c.3180C= (p.Asn1060=) c.3144C= (p.Asn1048=) n.26C= c.3255C= (p.Asn1085=) c.3219C= (p.Asn1073=) c.3177C= (p.Asn1059=) c.3141C= (p.Asn1047=) | |
| 19 | g.7125361G>T | CA403671135 | INSR | c.3180C>A (p.Asn1060Lys) c.3144C>A (p.Asn1048Lys) n.26C>A c.3255C>A (p.Asn1085Lys) c.3219C>A (p.Asn1073Lys) c.3177C>A (p.Asn1059Lys) c.3141C>A (p.Asn1047Lys) | |
| 19 | g.7125362_7125364del | CA2813462927 | INSR | c.3178_3180del (p.Asn1060del) c.3142_3144del (p.Asn1048del) n.24_26del c.3253_3255del (p.Asn1085del) c.3217_3219del (p.Asn1073del) c.3175_3177del (p.Asn1059del) c.3139_3141del (p.Asn1047del) | |
| 19 | g.7125362T>A | CA403671136 | INSR | c.3179A>T (p.Asn1060Ile) c.3143A>T (p.Asn1048Ile) n.25A>T c.3254A>T (p.Asn1085Ile) c.3218A>T (p.Asn1073Ile) c.3176A>T (p.Asn1059Ile) c.3140A>T (p.Asn1047Ile) | |
| 19 | g.7125362T>C | CA403671137 | INSR | c.3179A>G (p.Asn1060Ser) c.3143A>G (p.Asn1048Ser) n.25A>G c.3254A>G (p.Asn1085Ser) c.3218A>G (p.Asn1073Ser) c.3176A>G (p.Asn1059Ser) c.3140A>G (p.Asn1047Ser) | |
| 19 | g.7125362T>G | CA403671138 | INSR | c.3179A>C (p.Asn1060Thr) c.3143A>C (p.Asn1048Thr) n.25A>C c.3254A>C (p.Asn1085Thr) c.3218A>C (p.Asn1073Thr) c.3176A>C (p.Asn1059Thr) c.3140A>C (p.Asn1047Thr) | |
| 19 | g.7125363T>A | CA403671141 | INSR | c.3178A>T (p.Asn1060Tyr) c.3142A>T (p.Asn1048Tyr) n.24A>T c.3253A>T (p.Asn1085Tyr) c.3217A>T (p.Asn1073Tyr) c.3175A>T (p.Asn1059Tyr) c.3139A>T (p.Asn1047Tyr) | |
| 19 | g.7125363T>C | CA403671140 | INSR | c.3178A>G (p.Asn1060Asp) c.3142A>G (p.Asn1048Asp) n.24A>G c.3253A>G (p.Asn1085Asp) c.3217A>G (p.Asn1073Asp) c.3175A>G (p.Asn1059Asp) c.3139A>G (p.Asn1047Asp) | |
| 19 | g.7125363T>G | CA403671139 | INSR | c.3178A>C (p.Asn1060His) c.3142A>C (p.Asn1048His) n.24A>C c.3253A>C (p.Asn1085His) c.3217A>C (p.Asn1073His) c.3175A>C (p.Asn1059His) c.3139A>C (p.Asn1047His) | |
| 19 | g.7125364G>A | CA505400209 | INSR | c.3177C>T (p.Val1059=) c.3141C>T (p.Val1047=) n.23C>T c.3252C>T (p.Val1084=) c.3216C>T (p.Val1072=) c.3174C>T (p.Val1058=) c.3138C>T (p.Val1046=) | gnomAD v4 |
| 19 | g.7125364G>C | CA505400208 | INSR | c.3177C>G (p.Val1059=) c.3141C>G (p.Val1047=) n.23C>G c.3252C>G (p.Val1084=) c.3216C>G (p.Val1072=) c.3174C>G (p.Val1058=) c.3138C>G (p.Val1046=) | |
| 19 | g.7125364G>T | CA505400207 | INSR | c.3177C>A (p.Val1059=) c.3141C>A (p.Val1047=) n.23C>A c.3252C>A (p.Val1084=) c.3216C>A (p.Val1072=) c.3174C>A (p.Val1058=) c.3138C>A (p.Val1046=) | |
| 19 | g.7125365A>C | CA403671142 | INSR | c.3176T>G (p.Val1059Gly) c.3140T>G (p.Val1047Gly) n.22T>G c.3251T>G (p.Val1084Gly) c.3215T>G (p.Val1072Gly) c.3173T>G (p.Val1058Gly) c.3137T>G (p.Val1046Gly) | |
| 19 | g.7125365A>G | CA403671144 | INSR | c.3176T>C (p.Val1059Ala) c.3140T>C (p.Val1047Ala) n.22T>C c.3251T>C (p.Val1084Ala) c.3215T>C (p.Val1072Ala) c.3173T>C (p.Val1058Ala) c.3137T>C (p.Val1046Ala) | |
| 19 | g.7125365A>T | CA403671143 | INSR | c.3176T>A (p.Val1059Asp) c.3140T>A (p.Val1047Asp) n.22T>A c.3251T>A (p.Val1084Asp) c.3215T>A (p.Val1072Asp) c.3173T>A (p.Val1058Asp) c.3137T>A (p.Val1046Asp) | |
| 19 | g.7125366C>A | CA403671145 | INSR | c.3175G>T (p.Val1059Phe) c.3139G>T (p.Val1047Phe) n.21G>T c.3250G>T (p.Val1084Phe) c.3214G>T (p.Val1072Phe) c.3172G>T (p.Val1058Phe) c.3136G>T (p.Val1046Phe) | dbSNP gnomAD v4 |
| 19 | g.7125366C= | CA2320767937 | INSR | c.3175G= (p.Val1059=) c.3139G= (p.Val1047=) n.21G= c.3250G= (p.Val1084=) c.3214G= (p.Val1072=) c.3172G= (p.Val1058=) c.3136G= (p.Val1046=) | |
| 19 | g.7125366C>G | CA403671147 | INSR | c.3175G>C (p.Val1059Leu) c.3139G>C (p.Val1047Leu) n.21G>C c.3250G>C (p.Val1084Leu) c.3214G>C (p.Val1072Leu) c.3172G>C (p.Val1058Leu) c.3136G>C (p.Val1046Leu) | |
| 19 | g.7125366C>T | CA403671146 | INSR | c.3175G>A (p.Val1059Ile) c.3139G>A (p.Val1047Ile) n.21G>A c.3250G>A (p.Val1084Ile) c.3214G>A (p.Val1072Ile) c.3172G>A (p.Val1058Ile) c.3136G>A (p.Val1046Ile) | gnomAD v4 |
| 19 | g.7125367C>A | CA505400211 | INSR | c.3174G>T (p.Thr1058=) c.3138G>T (p.Thr1046=) n.20G>T c.3249G>T (p.Thr1083=) c.3213G>T (p.Thr1071=) c.3171G>T (p.Thr1057=) c.3135G>T (p.Thr1045=) | |
| 19 | g.7125367C= | CA2320767938 | INSR | c.3174G= (p.Thr1058=) c.3138G= (p.Thr1046=) n.20G= c.3249G= (p.Thr1083=) c.3213G= (p.Thr1071=) c.3171G= (p.Thr1057=) c.3135G= (p.Thr1045=) | |
| 19 | g.7125367C>G | CA505400210 | INSR | c.3174G>C (p.Thr1058=) c.3138G>C (p.Thr1046=) n.20G>C c.3249G>C (p.Thr1083=) c.3213G>C (p.Thr1071=) c.3171G>C (p.Thr1057=) c.3135G>C (p.Thr1045=) | |
| 19 | g.7125367C>T | CA9135344 | INSR | c.3174G>A (p.Thr1058=) c.3138G>A (p.Thr1046=) n.20G>A c.3249G>A (p.Thr1083=) c.3213G>A (p.Thr1071=) c.3171G>A (p.Thr1057=) c.3135G>A (p.Thr1045=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7125368G>A | CA9135345 | INSR | c.3173C>T (p.Thr1058Met) c.3137C>T (p.Thr1046Met) n.19C>T c.3248C>T (p.Thr1083Met) c.3212C>T (p.Thr1071Met) c.3170C>T (p.Thr1057Met) c.3134C>T (p.Thr1045Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7125368G>C | CA403671148 | INSR | c.3173C>G (p.Thr1058Arg) c.3137C>G (p.Thr1046Arg) n.19C>G c.3248C>G (p.Thr1083Arg) c.3212C>G (p.Thr1071Arg) c.3170C>G (p.Thr1057Arg) c.3134C>G (p.Thr1045Arg) | |
| 19 | g.7125368G= | CA2320767939 | INSR | c.3173C= (p.Thr1058=) c.3137C= (p.Thr1046=) n.19C= c.3248C= (p.Thr1083=) c.3212C= (p.Thr1071=) c.3170C= (p.Thr1057=) c.3134C= (p.Thr1045=) | |
| 19 | g.7125368G>T | CA403671149 | INSR | c.3173C>A (p.Thr1058Lys) c.3137C>A (p.Thr1046Lys) n.19C>A c.3248C>A (p.Thr1083Lys) c.3212C>A (p.Thr1071Lys) c.3170C>A (p.Thr1057Lys) c.3134C>A (p.Thr1045Lys) | |
| 19 | g.7125369T>A | CA403671150 | INSR | c.3172A>T (p.Thr1058Ser) c.3136A>T (p.Thr1046Ser) n.18A>T c.3247A>T (p.Thr1083Ser) c.3211A>T (p.Thr1071Ser) c.3169A>T (p.Thr1057Ser) c.3133A>T (p.Thr1045Ser) | |
| 19 | g.7125369T>C | CA403671151 | INSR | c.3172A>G (p.Thr1058Ala) c.3136A>G (p.Thr1046Ala) n.18A>G c.3247A>G (p.Thr1083Ala) c.3211A>G (p.Thr1071Ala) c.3169A>G (p.Thr1057Ala) c.3133A>G (p.Thr1045Ala) | |
| 19 | g.7125369T>G | CA403671152 | INSR | c.3172A>C (p.Thr1058Pro) c.3136A>C (p.Thr1046Pro) n.18A>C c.3247A>C (p.Thr1083Pro) c.3211A>C (p.Thr1071Pro) c.3169A>C (p.Thr1057Pro) c.3133A>C (p.Thr1045Pro) | |
| 19 | g.7125370C>A | CA403671153 | INSR | c.3171G>T (p.Lys1057Asn) c.3135G>T (p.Lys1045Asn) n.17G>T c.3246G>T (p.Lys1082Asn) c.3210G>T (p.Lys1070Asn) c.3168G>T (p.Lys1056Asn) c.3132G>T (p.Lys1044Asn) | |
| 19 | g.7125370C>G | CA403671154 | INSR | c.3171G>C (p.Lys1057Asn) c.3135G>C (p.Lys1045Asn) n.17G>C c.3246G>C (p.Lys1082Asn) c.3210G>C (p.Lys1070Asn) c.3168G>C (p.Lys1056Asn) c.3132G>C (p.Lys1044Asn) | |
| 19 | g.7125370C>T | CA505400212 | INSR | c.3171G>A (p.Lys1057=) c.3135G>A (p.Lys1045=) n.17G>A c.3246G>A (p.Lys1082=) c.3210G>A (p.Lys1070=) c.3168G>A (p.Lys1056=) c.3132G>A (p.Lys1044=) | |
| 19 | g.7125371T>A | CA403671155 | INSR | c.3170A>T (p.Lys1057Met) c.3134A>T (p.Lys1045Met) n.16A>T c.3245A>T (p.Lys1082Met) c.3209A>T (p.Lys1070Met) c.3167A>T (p.Lys1056Met) c.3131A>T (p.Lys1044Met) | |
| 19 | g.7125371T>C | CA403671156 | INSR | c.3170A>G (p.Lys1057Arg) c.3134A>G (p.Lys1045Arg) n.16A>G c.3245A>G (p.Lys1082Arg) c.3209A>G (p.Lys1070Arg) c.3167A>G (p.Lys1056Arg) c.3131A>G (p.Lys1044Arg) | |
| 19 | g.7125371T>G | CA403671157 | INSR | c.3170A>C (p.Lys1057Thr) c.3134A>C (p.Lys1045Thr) n.16A>C c.3245A>C (p.Lys1082Thr) c.3209A>C (p.Lys1070Thr) c.3167A>C (p.Lys1056Thr) c.3131A>C (p.Lys1044Thr) | |
| 19 | g.7125372T>A | CA403671158 | INSR | c.3169A>T (p.Lys1057Ter) c.3133A>T (p.Lys1045Ter) n.15A>T c.3244A>T (p.Lys1082Ter) c.3208A>T (p.Lys1070Ter) c.3166A>T (p.Lys1056Ter) c.3130A>T (p.Lys1044Ter) | |
| 19 | g.7125372T>C | CA403671159 | INSR | c.3169A>G (p.Lys1057Glu) c.3133A>G (p.Lys1045Glu) n.15A>G c.3244A>G (p.Lys1082Glu) c.3208A>G (p.Lys1070Glu) c.3166A>G (p.Lys1056Glu) c.3130A>G (p.Lys1044Glu) | |
| 19 | g.7125372T>G | CA403671160 | INSR | c.3169A>C (p.Lys1057Gln) c.3133A>C (p.Lys1045Gln) n.15A>C c.3244A>C (p.Lys1082Gln) c.3208A>C (p.Lys1070Gln) c.3166A>C (p.Lys1056Gln) c.3130A>C (p.Lys1044Gln) | |
| 19 | g.7125373C>A | CA505400214 | INSR | c.3168G>T (p.Val1056=) c.3132G>T (p.Val1044=) n.14G>T c.3243G>T (p.Val1081=) c.3207G>T (p.Val1069=) c.3165G>T (p.Val1055=) c.3129G>T (p.Val1043=) | |
| 19 | g.7125373C= | CA2320767940 | INSR | c.3168G= (p.Val1056=) c.3132G= (p.Val1044=) n.14G= c.3243G= (p.Val1081=) c.3207G= (p.Val1069=) c.3165G= (p.Val1055=) c.3129G= (p.Val1043=) | |
| 19 | g.7125373C>G | CA505400213 | INSR | c.3168G>C (p.Val1056=) c.3132G>C (p.Val1044=) n.14G>C c.3243G>C (p.Val1081=) c.3207G>C (p.Val1069=) c.3165G>C (p.Val1055=) c.3129G>C (p.Val1043=) | |
| 19 | g.7125373C>T | CA9135346 | INSR | c.3168G>A (p.Val1056=) c.3132G>A (p.Val1044=) n.14G>A c.3243G>A (p.Val1081=) c.3207G>A (p.Val1069=) c.3165G>A (p.Val1055=) c.3129G>A (p.Val1043=) | dbSNP ExAC gnomAD v2 |
| 19 | g.7125374A= | CA2320767941 | INSR | c.3167T= (p.Val1056=) c.3131T= (p.Val1044=) n.13T= c.3242T= (p.Val1081=) c.3206T= (p.Val1069=) c.3164T= (p.Val1055=) c.3128T= (p.Val1043=) | |
| 19 | g.7125374A>C | CA403671161 | INSR | c.3167T>G (p.Val1056Gly) c.3131T>G (p.Val1044Gly) n.13T>G c.3242T>G (p.Val1081Gly) c.3206T>G (p.Val1069Gly) c.3164T>G (p.Val1055Gly) c.3128T>G (p.Val1043Gly) | dbSNP |
| 19 | g.7125374A>G | CA403671162 | INSR | c.3167T>C (p.Val1056Ala) c.3131T>C (p.Val1044Ala) n.13T>C c.3242T>C (p.Val1081Ala) c.3206T>C (p.Val1069Ala) c.3164T>C (p.Val1055Ala) c.3128T>C (p.Val1043Ala) | |
| 19 | g.7125374A>T | CA403671163 | INSR | c.3167T>A (p.Val1056Glu) c.3131T>A (p.Val1044Glu) n.13T>A c.3242T>A (p.Val1081Glu) c.3206T>A (p.Val1069Glu) c.3164T>A (p.Val1055Glu) c.3128T>A (p.Val1043Glu) | dbSNP |
| 19 | g.7125375C>A | CA403671164 | INSR | c.3166G>T (p.Val1056Leu) c.3130G>T (p.Val1044Leu) n.12G>T c.3241G>T (p.Val1081Leu) c.3205G>T (p.Val1069Leu) c.3163G>T (p.Val1055Leu) c.3127G>T (p.Val1043Leu) | |
| 19 | g.7125375C>G | CA403671165 | INSR | c.3166G>C (p.Val1056Leu) c.3130G>C (p.Val1044Leu) n.12G>C c.3241G>C (p.Val1081Leu) c.3205G>C (p.Val1069Leu) c.3163G>C (p.Val1055Leu) c.3127G>C (p.Val1043Leu) | |
| 19 | g.7125375C>T | CA403671166 | INSR | c.3166G>A (p.Val1056Met) c.3130G>A (p.Val1044Met) n.12G>A c.3241G>A (p.Val1081Met) c.3205G>A (p.Val1069Met) c.3163G>A (p.Val1055Met) c.3127G>A (p.Val1043Met) | |
| 19 | g.7125376C>A | CA505400216 | INSR | c.3165G>T (p.Ala1055=) c.3129G>T (p.Ala1043=) n.11G>T c.3240G>T (p.Ala1080=) c.3204G>T (p.Ala1068=) c.3162G>T (p.Ala1054=) c.3126G>T (p.Ala1042=) | |
| 19 | g.7125376C= | CA2320767942 | INSR | c.3165G= (p.Ala1055=) c.3129G= (p.Ala1043=) n.11G= c.3240G= (p.Ala1080=) c.3204G= (p.Ala1068=) c.3162G= (p.Ala1054=) c.3126G= (p.Ala1042=) | |
| 19 | g.7125376C>G | CA505400215 | INSR | c.3165G>C (p.Ala1055=) c.3129G>C (p.Ala1043=) n.11G>C c.3240G>C (p.Ala1080=) c.3204G>C (p.Ala1068=) c.3162G>C (p.Ala1054=) c.3126G>C (p.Ala1042=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7125376C>T | CA9135347 | INSR | c.3165G>A (p.Ala1055=) c.3129G>A (p.Ala1043=) n.11G>A c.3240G>A (p.Ala1080=) c.3204G>A (p.Ala1068=) c.3162G>A (p.Ala1054=) c.3126G>A (p.Ala1042=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7125377G>A | CA403671167 | INSR | c.3164C>T (p.Ala1055Val) c.3128C>T (p.Ala1043Val) n.10C>T c.3239C>T (p.Ala1080Val) c.3203C>T (p.Ala1068Val) c.3161C>T (p.Ala1054Val) c.3125C>T (p.Ala1042Val) | ClinVar dbSNP |
| 19 | g.7125377G>C | CA403671168 | INSR | c.3164C>G (p.Ala1055Gly) c.3128C>G (p.Ala1043Gly) n.10C>G c.3239C>G (p.Ala1080Gly) c.3203C>G (p.Ala1068Gly) c.3161C>G (p.Ala1054Gly) c.3125C>G (p.Ala1042Gly) | dbSNP |
| 19 | g.7125377G= | CA2320767943 | INSR | c.3164C= (p.Ala1055=) c.3128C= (p.Ala1043=) n.10C= c.3239C= (p.Ala1080=) c.3203C= (p.Ala1068=) c.3161C= (p.Ala1054=) c.3125C= (p.Ala1042=) | |
| 19 | g.7125377G>T | CA403671169 | INSR | c.3164C>A (p.Ala1055Glu) c.3128C>A (p.Ala1043Glu) n.10C>A c.3239C>A (p.Ala1080Glu) c.3203C>A (p.Ala1068Glu) c.3161C>A (p.Ala1054Glu) c.3125C>A (p.Ala1042Glu) | |
| 19 | g.7125378C>A | CA403671170 | INSR | c.3163G>T (p.Ala1055Ser) c.3127G>T (p.Ala1043Ser) n.9G>T c.3238G>T (p.Ala1080Ser) c.3202G>T (p.Ala1068Ser) c.3160G>T (p.Ala1054Ser) c.3124G>T (p.Ala1042Ser) | |
| 19 | g.7125378C>G | CA403671171 | INSR | c.3163G>C (p.Ala1055Pro) c.3127G>C (p.Ala1043Pro) n.9G>C c.3238G>C (p.Ala1080Pro) c.3202G>C (p.Ala1068Pro) c.3160G>C (p.Ala1054Pro) c.3124G>C (p.Ala1042Pro) | |
| 19 | g.7125378C>T | CA403671172 | INSR | c.3163G>A (p.Ala1055Thr) c.3127G>A (p.Ala1043Thr) n.9G>A c.3238G>A (p.Ala1080Thr) c.3202G>A (p.Ala1068Thr) c.3160G>A (p.Ala1054Thr) c.3124G>A (p.Ala1042Thr) | |
| 19 | g.7125379C>A | CA505400219 | INSR | c.3162G>T (p.Val1054=) c.3126G>T (p.Val1042=) n.8G>T c.3237G>T (p.Val1079=) c.3201G>T (p.Val1067=) c.3159G>T (p.Val1053=) c.3123G>T (p.Val1041=) | |
| 19 | g.7125379C>G | CA505400218 | INSR | c.3162G>C (p.Val1054=) c.3126G>C (p.Val1042=) n.8G>C c.3237G>C (p.Val1079=) c.3201G>C (p.Val1067=) c.3159G>C (p.Val1053=) c.3123G>C (p.Val1041=) | |
| 19 | g.7125379C>T | CA505400217 | INSR | c.3162G>A (p.Val1054=) c.3126G>A (p.Val1042=) n.8G>A c.3237G>A (p.Val1079=) c.3201G>A (p.Val1067=) c.3159G>A (p.Val1053=) c.3123G>A (p.Val1041=) | |
| 19 | g.7125380A>C | CA403671173 | INSR | c.3161T>G (p.Val1054Gly) c.3125T>G (p.Val1042Gly) n.7T>G c.3236T>G (p.Val1079Gly) c.3200T>G (p.Val1067Gly) c.3158T>G (p.Val1053Gly) c.3122T>G (p.Val1041Gly) | |
| 19 | g.7125380A>G | CA403671175 | INSR | c.3161T>C (p.Val1054Ala) c.3125T>C (p.Val1042Ala) n.7T>C c.3236T>C (p.Val1079Ala) c.3200T>C (p.Val1067Ala) c.3158T>C (p.Val1053Ala) c.3122T>C (p.Val1041Ala) | |
| 19 | g.7125380A>T | CA403671174 | INSR | c.3161T>A (p.Val1054Glu) c.3125T>A (p.Val1042Glu) n.7T>A c.3236T>A (p.Val1079Glu) c.3200T>A (p.Val1067Glu) c.3158T>A (p.Val1053Glu) c.3122T>A (p.Val1041Glu) | |
| 19 | g.7125381C>A | CA403671176 | INSR | c.3160G>T (p.Val1054Leu) c.3124G>T (p.Val1042Leu) n.6G>T c.3235G>T (p.Val1079Leu) c.3199G>T (p.Val1067Leu) c.3157G>T (p.Val1053Leu) c.3121G>T (p.Val1041Leu) | |
| 19 | g.7125381C= | CA2320767944 | INSR | c.3160G= (p.Val1054=) c.3124G= (p.Val1042=) n.6G= c.3235G= (p.Val1079=) c.3199G= (p.Val1067=) c.3157G= (p.Val1053=) c.3121G= (p.Val1041=) | |
| 19 | g.7125381C>G | CA403671177 | INSR | c.3160G>C (p.Val1054Leu) c.3124G>C (p.Val1042Leu) n.6G>C c.3235G>C (p.Val1079Leu) c.3199G>C (p.Val1067Leu) c.3157G>C (p.Val1053Leu) c.3121G>C (p.Val1041Leu) | |
| 19 | g.7125381C>T | CA403671178 | INSR | c.3160G>A (p.Val1054Met) c.3124G>A (p.Val1042Met) n.6G>A c.3235G>A (p.Val1079Met) c.3199G>A (p.Val1067Met) c.3157G>A (p.Val1053Met) c.3121G>A (p.Val1041Met) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.[7125381C>T;7170555T>C] | CA645373218 | INSR | c.[1465A>G;3160G>A] (p.[Asn489Asp;Val1054Met]) c.[1465A>G;3124G>A] (p.[Asn489Asp;Val1042Met]) c.[1543A>G;3235G>A] (p.[Asn515Asp;Val1079Met]) c.[1543A>G;3199G>A] (p.[Asn515Asp;Val1067Met]) c.[1465A>G;3157G>A] (p.[Asn489Asp;Val1053Met]) c.[1465A>G;3121G>A] (p.[Asn489Asp;Val1041Met]) | |
| 19 | g.7125382G>A | CA9135348 | INSR | c.3159C>T (p.Arg1053=) c.3123C>T (p.Arg1041=) n.5C>T c.3234C>T (p.Arg1078=) c.3198C>T (p.Arg1066=) c.3156C>T (p.Arg1052=) c.3120C>T (p.Arg1040=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7125382G>C | CA505400221 | INSR | c.3159C>G (p.Arg1053=) c.3123C>G (p.Arg1041=) n.5C>G c.3234C>G (p.Arg1078=) c.3198C>G (p.Arg1066=) c.3156C>G (p.Arg1052=) c.3120C>G (p.Arg1040=) | |
| 19 | g.7125382G= | CA2320767945 | INSR | c.3159C= (p.Arg1053=) c.3123C= (p.Arg1041=) n.5C= c.3234C= (p.Arg1078=) c.3198C= (p.Arg1066=) c.3156C= (p.Arg1052=) c.3120C= (p.Arg1040=) | |
| 19 | g.7125382G>T | CA505400220 | INSR | c.3159C>A (p.Arg1053=) c.3123C>A (p.Arg1041=) n.5C>A c.3234C>A (p.Arg1078=) c.3198C>A (p.Arg1066=) c.3156C>A (p.Arg1052=) c.3120C>A (p.Arg1040=) | |
| 19 | g.7125383C>A | CA403671179 | INSR | c.3158G>T (p.Arg1053Leu) c.3122G>T (p.Arg1041Leu) n.4G>T c.3233G>T (p.Arg1078Leu) c.3197G>T (p.Arg1066Leu) c.3155G>T (p.Arg1052Leu) c.3119G>T (p.Arg1040Leu) | |
| 19 | g.7125383C= | CA2320767946 | INSR | c.3158G= (p.Arg1053=) c.3122G= (p.Arg1041=) n.4G= c.3233G= (p.Arg1078=) c.3197G= (p.Arg1066=) c.3155G= (p.Arg1052=) c.3119G= (p.Arg1040=) | |
| 19 | g.7125383C>G | CA403671180 | INSR | c.3158G>C (p.Arg1053Pro) c.3122G>C (p.Arg1041Pro) n.4G>C c.3233G>C (p.Arg1078Pro) c.3197G>C (p.Arg1066Pro) c.3155G>C (p.Arg1052Pro) c.3119G>C (p.Arg1040Pro) | |
| 19 | g.7125383C>T | CA9135349 | INSR | c.3158G>A (p.Arg1053His) c.3122G>A (p.Arg1041His) n.4G>A c.3233G>A (p.Arg1078His) c.3197G>A (p.Arg1066His) c.3155G>A (p.Arg1052His) c.3119G>A (p.Arg1040His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7125384G>A | CA9135350 | INSR | c.3157C>T (p.Arg1053Cys) c.3121C>T (p.Arg1041Cys) n.3C>T c.3232C>T (p.Arg1078Cys) c.3196C>T (p.Arg1066Cys) c.3154C>T (p.Arg1052Cys) c.3118C>T (p.Arg1040Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7125384G>C | CA403671181 | INSR | c.3157C>G (p.Arg1053Gly) c.3121C>G (p.Arg1041Gly) n.3C>G c.3232C>G (p.Arg1078Gly) c.3196C>G (p.Arg1066Gly) c.3154C>G (p.Arg1052Gly) c.3118C>G (p.Arg1040Gly) | |
| 19 | g.7125384G= | CA2320767947 | INSR | c.3157C= (p.Arg1053=) c.3121C= (p.Arg1041=) n.3C= c.3232C= (p.Arg1078=) c.3196C= (p.Arg1066=) c.3154C= (p.Arg1052=) c.3118C= (p.Arg1040=) | |
| 19 | g.7125384G>T | CA403671182 | INSR | c.3157C>A (p.Arg1053Ser) c.3121C>A (p.Arg1041Ser) n.3C>A c.3232C>A (p.Arg1078Ser) c.3196C>A (p.Arg1066Ser) c.3154C>A (p.Arg1052Ser) c.3118C>A (p.Arg1040Ser) | |
| 19 | g.7125385G>A | CA505400224 | INSR | c.3156C>T (p.Thr1052=) c.3120C>T (p.Thr1040=) n.2C>T c.3231C>T (p.Thr1077=) c.3195C>T (p.Thr1065=) c.3153C>T (p.Thr1051=) c.3117C>T (p.Thr1039=) | |
| 19 | g.7125385G>C | CA505400223 | INSR | c.3156C>G (p.Thr1052=) c.3120C>G (p.Thr1040=) n.2C>G c.3231C>G (p.Thr1077=) c.3195C>G (p.Thr1065=) c.3153C>G (p.Thr1051=) c.3117C>G (p.Thr1039=) | |
| 19 | g.7125385G>T | CA505400222 | INSR | c.3156C>A (p.Thr1052=) c.3120C>A (p.Thr1040=) n.2C>A c.3231C>A (p.Thr1077=) c.3195C>A (p.Thr1065=) c.3153C>A (p.Thr1051=) c.3117C>A (p.Thr1039=) |