| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) |