UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.98707807_98707812del | CA2630561971 | IGF1R | c.340_345del (p.Asn114_Tyr115del) n.340_345del c.415_420del (p.Asn139_Tyr140del) c.-24_-19del (n.-24_-19del) | gnomAD v4 |
| 15 | g.98707804T>A | CA393697050 | IGF1R | c.337T>A (p.Tyr113Asn) n.337T>A c.412T>A (p.Tyr138Asn) c.-27T>A (n.-27T>A) | dbSNP |
| 15 | g.98707804T>C | CA393697051 | IGF1R | c.337T>C (p.Tyr113His) n.337T>C c.412T>C (p.Tyr138His) c.-27T>C (n.-27T>C) | COSMIC |
| 15 | g.98707804T>G | CA393697052 | IGF1R | c.337T>G (p.Tyr113Asp) n.337T>G c.412T>G (p.Tyr138Asp) c.-27T>G (n.-27T>G) | |
| 15 | g.98707805A>C | CA393697053 | IGF1R | c.338A>C (p.Tyr113Ser) n.338A>C c.413A>C (p.Tyr138Ser) c.-26A>C (n.-26A>C) | |
| 15 | g.98707805A>G | CA393697054 | IGF1R | c.338A>G (p.Tyr113Cys) n.338A>G c.413A>G (p.Tyr138Cys) c.-26A>G (n.-26A>G) | |
| 15 | g.98707805A>T | CA393697055 | IGF1R | c.338A>T (p.Tyr113Phe) n.338A>T c.413A>T (p.Tyr138Phe) c.-26A>T (n.-26A>T) | |
| 15 | g.98707806C>A | CA393697056 | IGF1R | c.339C>A (p.Tyr113Ter) n.339C>A c.414C>A (p.Tyr138Ter) c.-25C>A (n.-25C>A) | |
| 15 | g.98707806C>G | CA393697057 | IGF1R | c.339C>G (p.Tyr113Ter) n.339C>G c.414C>G (p.Tyr138Ter) c.-25C>G (n.-25C>G) | |
| 15 | g.98707806C>T | CA492686275 | IGF1R | c.339C>T (p.Tyr113=) n.339C>T c.414C>T (p.Tyr138=) c.-25C>T (n.-25C>T) | dbSNP gnomAD v4 |
| 15 | g.98707807A>C | CA393697058 | IGF1R | c.340A>C (p.Asn114His) n.340A>C c.415A>C (p.Asn139His) c.-24A>C (n.-24A>C) | |
| 15 | g.98707807A>G | CA393697059 | IGF1R | c.340A>G (p.Asn114Asp) n.340A>G c.415A>G (p.Asn139Asp) c.-24A>G (n.-24A>G) | |
| 15 | g.98707807A>T | CA393697060 | IGF1R | c.340A>T (p.Asn114Tyr) n.340A>T c.415A>T (p.Asn139Tyr) c.-24A>T (n.-24A>T) | |
| 15 | g.98707808A>C | CA393697061 | IGF1R | c.341A>C (p.Asn114Thr) n.341A>C c.416A>C (p.Asn139Thr) c.-23A>C (n.-23A>C) | |
| 15 | g.98707808A>G | CA393697062 | IGF1R | c.341A>G (p.Asn114Ser) n.341A>G c.416A>G (p.Asn139Ser) c.-23A>G (n.-23A>G) | gnomAD v4 |
| 15 | g.98707808A>T | CA393697063 | IGF1R | c.341A>T (p.Asn114Ile) n.341A>T c.416A>T (p.Asn139Ile) c.-23A>T (n.-23A>T) | |
| 15 | g.98707809C>A | CA393697064 | IGF1R | c.342C>A (p.Asn114Lys) n.342C>A c.417C>A (p.Asn139Lys) c.-22C>A (n.-22C>A) | |
| 15 | g.98707809C>G | CA393697065 | IGF1R | c.342C>G (p.Asn114Lys) n.342C>G c.417C>G (p.Asn139Lys) c.-22C>G (n.-22C>G) | |
| 15 | g.98707809C>T | CA492686276 | IGF1R | c.342C>T (p.Asn114=) n.342C>T c.417C>T (p.Asn139=) c.-22C>T (n.-22C>T) | dbSNP |
| 15 | g.98707810T>A | CA393697066 | IGF1R | c.343T>A (p.Tyr115Asn) n.343T>A c.418T>A (p.Tyr140Asn) c.-21T>A (n.-21T>A) | |
| 15 | g.98707810T>C | CA393697067 | IGF1R | c.343T>C (p.Tyr115His) n.343T>C c.418T>C (p.Tyr140His) c.-21T>C (n.-21T>C) | |
| 15 | g.98707810T>G | CA393697068 | IGF1R | c.343T>G (p.Tyr115Asp) n.343T>G c.418T>G (p.Tyr140Asp) c.-21T>G (n.-21T>G) | |
| 15 | g.98707811A>C | CA393697069 | IGF1R | c.344A>C (p.Tyr115Ser) n.344A>C c.419A>C (p.Tyr140Ser) c.-20A>C (n.-20A>C) | |
| 15 | g.98707811A>G | CA393697070 | IGF1R | c.344A>G (p.Tyr115Cys) n.344A>G c.419A>G (p.Tyr140Cys) c.-20A>G (n.-20A>G) | |
| 15 | g.98707811A>T | CA393697071 | IGF1R | c.344A>T (p.Tyr115Phe) n.344A>T c.419A>T (p.Tyr140Phe) c.-20A>T (n.-20A>T) | |
| 15 | g.98707812C>A | CA393697072 | IGF1R | c.345C>A (p.Tyr115Ter) n.345C>A c.420C>A (p.Tyr140Ter) c.-19C>A (n.-19C>A) | dbSNP |
| 15 | g.98707812C= | CA2199177441 | IGF1R | c.345C= (p.Tyr115=) n.345C= c.420C= (p.Tyr140=) c.-19C= (n.-19C=) | |
| 15 | g.98707812C>G | CA393697073 | IGF1R | c.345C>G (p.Tyr115Ter) n.345C>G c.420C>G (p.Tyr140Ter) c.-19C>G (n.-19C>G) | dbSNP |
| 15 | g.98707812C>T | CA7751779 | IGF1R | c.345C>T (p.Tyr115=) n.345C>T c.420C>T (p.Tyr140=) c.-19C>T (n.-19C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.98707813G>A | CA393697076 | IGF1R | c.346G>A (p.Ala116Thr) n.346G>A c.421G>A (p.Ala141Thr) c.-18G>A (n.-18G>A) | dbSNP gnomAD v4 |
| 15 | g.98707813G>C | CA393697074 | IGF1R | c.346G>C (p.Ala116Pro) n.346G>C c.421G>C (p.Ala141Pro) c.-18G>C (n.-18G>C) | dbSNP |
| 15 | g.98707813G>T | CA393697075 | IGF1R | c.346G>T (p.Ala116Ser) n.346G>T c.421G>T (p.Ala141Ser) c.-18G>T (n.-18G>T) | gnomAD v4 |
| 15 | g.98707814C>A | CA393697077 | IGF1R | c.347C>A (p.Ala116Asp) n.347C>A c.422C>A (p.Ala141Asp) c.-17C>A (n.-17C>A) | |
| 15 | g.98707814C>G | CA393697078 | IGF1R | c.347C>G (p.Ala116Gly) n.347C>G c.422C>G (p.Ala141Gly) c.-17C>G (n.-17C>G) | |
| 15 | g.98707814C>T | CA393697079 | IGF1R | c.347C>T (p.Ala116Val) n.347C>T c.422C>T (p.Ala141Val) c.-17C>T (n.-17C>T) | |
| 15 | g.98707815C>A | CA492686279 | IGF1R | c.348C>A (p.Ala116=) n.348C>A c.423C>A (p.Ala141=) c.-16C>A (n.-16C>A) | |
| 15 | g.98707815C>G | CA492686280 | IGF1R | c.348C>G (p.Ala116=) n.348C>G c.423C>G (p.Ala141=) c.-16C>G (n.-16C>G) | |
| 15 | g.98707815C>T | CA492686281 | IGF1R | c.348C>T (p.Ala116=) n.348C>T c.423C>T (p.Ala141=) c.-16C>T (n.-16C>T) | |
| 15 | g.98707817_98707836del | CA2575843846 | IGF1R | c.350_369del (p.Leu117GlnfsTer21) n.350_369del c.425_444del (p.Leu142GlnfsTer21) c.-14_6del | |
| 15 | g.98707816C>A | CA393697080 | IGF1R | c.349C>A (p.Leu117Met) n.349C>A c.424C>A (p.Leu142Met) c.-15C>A (n.-15C>A) | |
| 15 | g.98707816C= | CA2199177446 | IGF1R | c.349C= (p.Leu117=) n.349C= c.424C= (p.Leu142=) c.-15C= (n.-15C=) | |
| 15 | g.98707816C>G | CA275819403 | IGF1R | c.349C>G (p.Leu117Val) n.349C>G c.424C>G (p.Leu142Val) c.-15C>G (n.-15C>G) | dbSNP |
| 15 | g.98707816C>T | CA7751780 | IGF1R | c.349C>T (p.Leu117=) n.349C>T c.424C>T (p.Leu142=) c.-15C>T (n.-15C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.98707817T>A | CA393697081 | IGF1R | c.350T>A (p.Leu117Gln) n.350T>A c.425T>A (p.Leu142Gln) c.-14T>A (n.-14T>A) | |
| 15 | g.98707817T>C | CA393697082 | IGF1R | c.350T>C (p.Leu117Pro) n.350T>C c.425T>C (p.Leu142Pro) c.-14T>C (n.-14T>C) | |
| 15 | g.98707817T>G | CA393697083 | IGF1R | c.350T>G (p.Leu117Arg) n.350T>G c.425T>G (p.Leu142Arg) c.-14T>G (n.-14T>G) | |
| 15 | g.98707818G>A | CA492686282 | IGF1R | c.351G>A (p.Leu117=) n.351G>A c.426G>A (p.Leu142=) c.-13G>A (n.-13G>A) | gnomAD v4 |
| 15 | g.98707818G>C | CA492686284 | IGF1R | c.351G>C (p.Leu117=) n.351G>C c.426G>C (p.Leu142=) c.-13G>C (n.-13G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.98707818G= | CA2199177450 | IGF1R | c.351G= (p.Leu117=) n.351G= c.426G= (p.Leu142=) c.-13G= (n.-13G=) | |
| 15 | g.98707818G>T | CA492686283 | IGF1R | c.351G>T (p.Leu117=) n.351G>T c.426G>T (p.Leu142=) c.-13G>T (n.-13G>T) | |
| 15 | g.98707819G>A | CA393697084 | IGF1R | c.352G>A (p.Val118Ile) n.352G>A c.427G>A (p.Val143Ile) c.-12G>A (n.-12G>A) | |
| 15 | g.98707819G>C | CA393697085 | IGF1R | c.352G>C (p.Val118Leu) n.352G>C c.427G>C (p.Val143Leu) c.-12G>C (n.-12G>C) | dbSNP |
| 15 | g.98707819G>T | CA393697086 | IGF1R | c.352G>T (p.Val118Phe) n.352G>T c.427G>T (p.Val143Phe) c.-12G>T (n.-12G>T) | |
| 15 | g.98707819_98707821dup | CA2731696079 | IGF1R | c.352_354dup (p.Val118_Ile119insVal) n.352_354dup c.427_429dup (p.Val143_Ile144insVal) c.-12_-10dup (n.-12_-10dup) | dbSNP |
| 15 | g.98707820T>A | CA393697087 | IGF1R | c.353T>A (p.Val118Asp) n.353T>A c.428T>A (p.Val143Asp) c.-11T>A (n.-11T>A) | |
| 15 | g.98707820T>C | CA393697089 | IGF1R | c.353T>C (p.Val118Ala) n.353T>C c.428T>C (p.Val143Ala) c.-11T>C (n.-11T>C) | |
| 15 | g.98707820T>G | CA393697088 | IGF1R | c.353T>G (p.Val118Gly) n.353T>G c.428T>G (p.Val143Gly) c.-11T>G (n.-11T>G) | |
| 15 | g.98707821C>A | CA492686285 | IGF1R | c.354C>A (p.Val118=) n.354C>A c.429C>A (p.Val143=) c.-10C>A (n.-10C>A) | |
| 15 | g.98707821C>G | CA492686286 | IGF1R | c.354C>G (p.Val118=) n.354C>G c.429C>G (p.Val143=) c.-10C>G (n.-10C>G) | |
| 15 | g.98707821C>T | CA492686287 | IGF1R | c.354C>T (p.Val118=) n.354C>T c.429C>T (p.Val143=) c.-10C>T (n.-10C>T) | gnomAD v4 |
| 15 | g.98707822A= | CA2199177455 | IGF1R | c.355A= (p.Ile119=) n.355A= c.430A= (p.Ile144=) c.-9A= (n.-9A=) | |
| 15 | g.98707822A>C | CA393697090 | IGF1R | c.355A>C (p.Ile119Leu) n.355A>C c.430A>C (p.Ile144Leu) c.-9A>C (n.-9A>C) | |
| 15 | g.98707822A>G | CA7751781 | IGF1R | c.355A>G (p.Ile119Val) n.355A>G c.430A>G (p.Ile144Val) c.-9A>G (n.-9A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.98707822A>T | CA393697091 | IGF1R | c.355A>T (p.Ile119Phe) n.355A>T c.430A>T (p.Ile144Phe) c.-9A>T (n.-9A>T) | |
| 15 | g.98707823T>A | CA393697092 | IGF1R | c.356T>A (p.Ile119Asn) n.356T>A c.431T>A (p.Ile144Asn) c.-8T>A (n.-8T>A) | |
| 15 | g.98707823T>C | CA393697093 | IGF1R | c.356T>C (p.Ile119Thr) n.356T>C c.431T>C (p.Ile144Thr) c.-8T>C (n.-8T>C) | |
| 15 | g.98707823T>G | CA393697094 | IGF1R | c.356T>G (p.Ile119Ser) n.356T>G c.431T>G (p.Ile144Ser) c.-8T>G (n.-8T>G) | |
| 15 | g.98707824C>A | CA492686288 | IGF1R | c.357C>A (p.Ile119=) n.357C>A c.432C>A (p.Ile144=) c.-7C>A (n.-7C>A) | |
| 15 | g.98707824C= | CA2199177459 | IGF1R | c.357C= (p.Ile119=) n.357C= c.432C= (p.Ile144=) c.-7C= (n.-7C=) | |
| 15 | g.98707824C>G | CA393697095 | IGF1R | c.357C>G (p.Ile119Met) n.357C>G c.432C>G (p.Ile144Met) c.-7C>G (n.-7C>G) | |
| 15 | g.98707824C>T | CA7751782 | IGF1R | c.357C>T (p.Ile119=) n.357C>T c.432C>T (p.Ile144=) c.-7C>T (n.-7C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.98707825T>A | CA393697096 | IGF1R | c.358T>A (p.Phe120Ile) n.358T>A c.433T>A (p.Phe145Ile) c.-6T>A (n.-6T>A) | |
| 15 | g.98707825T>C | CA393697097 | IGF1R | c.358T>C (p.Phe120Leu) n.358T>C c.433T>C (p.Phe145Leu) c.-6T>C (n.-6T>C) | |
| 15 | g.98707825T>G | CA393697098 | IGF1R | c.358T>G (p.Phe120Val) n.358T>G c.433T>G (p.Phe145Val) c.-6T>G (n.-6T>G) | ClinVar dbSNP |
| 15 | g.98707825T= | CA2199177463 | IGF1R | c.358T= (p.Phe120=) n.358T= c.433T= (p.Phe145=) c.-6T= (n.-6T=) | |
| 15 | g.98707826T>A | CA393697101 | IGF1R | c.359T>A (p.Phe120Tyr) n.359T>A c.434T>A (p.Phe145Tyr) c.-5T>A (n.-5T>A) | |
| 15 | g.98707826T>C | CA393697100 | IGF1R | c.359T>C (p.Phe120Ser) n.359T>C c.434T>C (p.Phe145Ser) c.-5T>C (n.-5T>C) | |
| 15 | g.98707826T>G | CA393697099 | IGF1R | c.359T>G (p.Phe120Cys) n.359T>G c.434T>G (p.Phe145Cys) c.-5T>G (n.-5T>G) | |
| 15 | g.98707827C>A | CA393697103 | IGF1R | c.360C>A (p.Phe120Leu) n.360C>A c.435C>A (p.Phe145Leu) c.-4C>A (n.-4C>A) | |
| 15 | g.98707827C= | CA2199177466 | IGF1R | c.360C= (p.Phe120=) n.360C= c.435C= (p.Phe145=) c.-4C= (n.-4C=) | |
| 15 | g.98707827C>G | CA393697102 | IGF1R | c.360C>G (p.Phe120Leu) n.360C>G c.435C>G (p.Phe145Leu) c.-4C>G (n.-4C>G) | dbSNP |
| 15 | g.98707827C>T | CA492686290 | IGF1R | c.360C>T (p.Phe120=) n.360C>T c.435C>T (p.Phe145=) c.-4C>T (n.-4C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.98707828G>A | CA393697104 | IGF1R | c.361G>A (p.Glu121Lys) n.361G>A c.436G>A (p.Glu146Lys) c.-3G>A (n.-3G>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.98707828G>C | CA393697105 | IGF1R | c.361G>C (p.Glu121Gln) n.361G>C c.436G>C (p.Glu146Gln) c.-3G>C (n.-3G>C) | dbSNP |
| 15 | g.98707828G= | CA2199177472 | IGF1R | c.361G= (p.Glu121=) n.361G= c.436G= (p.Glu146=) c.-3G= (n.-3G=) | |
| 15 | g.98707828G>T | CA393697106 | IGF1R | c.361G>T (p.Glu121Ter) n.361G>T c.436G>T (p.Glu146Ter) c.-3G>T (n.-3G>T) | |
| 15 | g.98707829A>C | CA393697107 | IGF1R | c.362A>C (p.Glu121Ala) n.362A>C c.437A>C (p.Glu146Ala) c.-2A>C (n.-2A>C) | |
| 15 | g.98707829A>G | CA393697108 | IGF1R | c.362A>G (p.Glu121Gly) n.362A>G c.437A>G (p.Glu146Gly) c.-2A>G (n.-2A>G) | |
| 15 | g.98707829A>T | CA393697109 | IGF1R | c.362A>T (p.Glu121Val) n.362A>T c.437A>T (p.Glu146Val) c.-2A>T (n.-2A>T) | |
| 15 | g.98707830G>A | CA7751783 | IGF1R | c.363G>A (p.Glu121=) n.363G>A c.438G>A (p.Glu146=) c.-1G>A (n.-1G>A) | dbSNP ExAC gnomAD v2 |
| 15 | g.98707830G>C | CA393697110 | IGF1R | c.363G>C (p.Glu121Asp) n.363G>C c.438G>C (p.Glu146Asp) c.-1G>C (n.-1G>C) | dbSNP |
| 15 | g.98707830G= | CA2199177479 | IGF1R | c.363G= (p.Glu121=) n.363G= c.438G= (p.Glu146=) c.-1G= (n.-1G=) | |
| 15 | g.98707830G>T | CA393697111 | IGF1R | c.363G>T (p.Glu121Asp) n.363G>T c.438G>T (p.Glu146Asp) c.-1G>T (n.-1G>T) | |
| 15 | g.98707831A>C | CA393697112 | IGF1R | c.364A>C (p.Met122Leu) c.1A>C (p.Met1Leu) n.364A>C c.439A>C (p.Met147Leu) | |
| 15 | g.98707831A>G | CA393697113 | IGF1R | c.364A>G (p.Met122Val) c.1A>G (p.Met1Val) n.364A>G c.439A>G (p.Met147Val) | |
| 15 | g.98707831A>T | CA393697114 | IGF1R | c.364A>T (p.Met122Leu) c.1A>T (p.Met1Leu) n.364A>T c.439A>T (p.Met147Leu) | |
| 15 | g.98707832T>A | CA393697117 | IGF1R | c.365T>A (p.Met122Lys) c.2T>A (p.Met1Lys) n.365T>A c.440T>A (p.Met147Lys) | |
| 15 | g.98707832T>C | CA393697115 | IGF1R | c.365T>C (p.Met122Thr) c.2T>C (p.Met1Thr) n.365T>C c.440T>C (p.Met147Thr) | |
| 15 | g.98707832T>G | CA393697116 | IGF1R | c.365T>G (p.Met122Arg) c.2T>G (p.Met1Arg) n.365T>G c.440T>G (p.Met147Arg) | |
| 15 | g.98707833G>A | CA393697118 | IGF1R | c.366G>A (p.Met122Ile) c.3G>A (p.Met1Ile) n.366G>A c.441G>A (p.Met147Ile) | |
| 15 | g.98707833G>C | CA393697119 | IGF1R | c.366G>C (p.Met122Ile) c.3G>C (p.Met1Ile) n.366G>C c.441G>C (p.Met147Ile) | dbSNP COSMIC |
| 15 | g.98707833G>T | CA393697120 | IGF1R | c.366G>T (p.Met122Ile) c.3G>T (p.Met1Ile) n.366G>T c.441G>T (p.Met147Ile) | gnomAD v4 |
| 15 | g.98707834A>C | CA393697121 | IGF1R | c.367A>C (p.Thr123Pro) c.4A>C (p.Thr2Pro) n.367A>C c.442A>C (p.Thr148Pro) | |
| 15 | g.98707834A>G | CA393697122 | IGF1R | c.367A>G (p.Thr123Ala) c.4A>G (p.Thr2Ala) n.367A>G c.442A>G (p.Thr148Ala) | |
| 15 | g.98707834A>T | CA393697123 | IGF1R | c.367A>T (p.Thr123Ser) c.4A>T (p.Thr2Ser) n.367A>T c.442A>T (p.Thr148Ser) | dbSNP |
| 15 | g.98707835C>A | CA393697124 | IGF1R | c.368C>A (p.Thr123Asn) c.5C>A (p.Thr2Asn) n.368C>A c.443C>A (p.Thr148Asn) | dbSNP |
| 15 | g.98707835C>G | CA393697125 | IGF1R | c.368C>G (p.Thr123Ser) c.5C>G (p.Thr2Ser) n.368C>G c.443C>G (p.Thr148Ser) | dbSNP |
| 15 | g.98707835C>T | CA393697126 | IGF1R | c.368C>T (p.Thr123Ile) c.5C>T (p.Thr2Ile) n.368C>T c.443C>T (p.Thr148Ile) | |
| 15 | g.98707836C>A | CA492686293 | IGF1R | c.369C>A (p.Thr123=) c.6C>A (p.Thr2=) n.369C>A c.444C>A (p.Thr148=) | |
| 15 | g.98707836C= | CA2199177484 | IGF1R | c.369C= (p.Thr123=) c.6C= (p.Thr2=) n.369C= c.444C= (p.Thr148=) | |
| 15 | g.98707836C>G | CA492686294 | IGF1R | c.369C>G (p.Thr123=) c.6C>G (p.Thr2=) n.369C>G c.444C>G (p.Thr148=) | |
| 15 | g.98707836C>T | CA7751784 | IGF1R | c.369C>T (p.Thr123=) c.6C>T (p.Thr2=) n.369C>T c.444C>T (p.Thr148=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 15 | g.98707837A>C | CA393697127 | IGF1R | c.370A>C (p.Asn124His) c.7A>C (p.Asn3His) n.370A>C c.445A>C (p.Asn149His) | ClinVar |
| 15 | g.98707837A>G | CA393697128 | IGF1R | c.370A>G (p.Asn124Asp) c.7A>G (p.Asn3Asp) n.370A>G c.445A>G (p.Asn149Asp) | |
| 15 | g.98707837A>T | CA393697129 | IGF1R | c.370A>T (p.Asn124Tyr) c.7A>T (p.Asn3Tyr) n.370A>T c.445A>T (p.Asn149Tyr) | |
| 15 | g.98707838A= | CA2199177488 | IGF1R | c.371A= (p.Asn124=) c.8A= (p.Asn3=) n.371A= c.446A= (p.Asn149=) | |
| 15 | g.98707838A>C | CA393697131 | IGF1R | c.371A>C (p.Asn124Thr) c.8A>C (p.Asn3Thr) n.371A>C c.446A>C (p.Asn149Thr) | |
| 15 | g.98707838A>G | CA7751785 | IGF1R | c.371A>G (p.Asn124Ser) c.8A>G (p.Asn3Ser) n.371A>G c.446A>G (p.Asn149Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.98707838A>T | CA393697130 | IGF1R | c.371A>T (p.Asn124Ile) c.8A>T (p.Asn3Ile) n.371A>T c.446A>T (p.Asn149Ile) | |
| 15 | g.98707839T>A | CA393697132 | IGF1R | c.372T>A (p.Asn124Lys) c.9T>A (p.Asn3Lys) n.372T>A c.447T>A (p.Asn149Lys) | |
| 15 | g.98707839T>C | CA492686297 | IGF1R | c.372T>C (p.Asn124=) c.9T>C (p.Asn3=) n.372T>C c.447T>C (p.Asn149=) | |
| 15 | g.98707839T>G | CA393697133 | IGF1R | c.372T>G (p.Asn124Lys) c.9T>G (p.Asn3Lys) n.372T>G c.447T>G (p.Asn149Lys) | |
| 15 | g.98707840C>A | CA393697134 | IGF1R | c.373C>A (p.Leu125Ile) c.10C>A (p.Leu4Ile) n.373C>A c.448C>A (p.Leu150Ile) | gnomAD v4 |
| 15 | g.98707840C>G | CA393697135 | IGF1R | c.373C>G (p.Leu125Val) c.10C>G (p.Leu4Val) n.373C>G c.448C>G (p.Leu150Val) | COSMIC |
| 15 | g.98707840C>T | CA393697136 | IGF1R | c.373C>T (p.Leu125Phe) c.10C>T (p.Leu4Phe) n.373C>T c.448C>T (p.Leu150Phe) | |
| 15 | g.98707841T>A | CA393697137 | IGF1R | c.374T>A (p.Leu125His) c.11T>A (p.Leu4His) n.374T>A c.449T>A (p.Leu150His) | dbSNP |
| 15 | g.98707841T>C | CA393697138 | IGF1R | c.374T>C (p.Leu125Pro) c.11T>C (p.Leu4Pro) n.374T>C c.449T>C (p.Leu150Pro) | |
| 15 | g.98707841T>G | CA393697139 | IGF1R | c.374T>G (p.Leu125Arg) c.11T>G (p.Leu4Arg) n.374T>G c.449T>G (p.Leu150Arg) | |
| 15 | g.98707842C>A | CA492686298 | IGF1R | c.375C>A (p.Leu125=) c.12C>A (p.Leu4=) n.375C>A c.450C>A (p.Leu150=) | |
| 15 | g.98707842C= | CA2199177490 | IGF1R | c.375C= (p.Leu125=) c.12C= (p.Leu4=) n.375C= c.450C= (p.Leu150=) | |
| 15 | g.98707842C>G | CA492686299 | IGF1R | c.375C>G (p.Leu125=) c.12C>G (p.Leu4=) n.375C>G c.450C>G (p.Leu150=) | dbSNP gnomAD v4 |
| 15 | g.98707842C>T | CA492686300 | IGF1R | c.375C>T (p.Leu125=) c.12C>T (p.Leu4=) n.375C>T c.450C>T (p.Leu150=) | |
| 15 | g.98707843A= | CA2199177492 | IGF1R | c.376A= (p.Lys126=) c.13A= (p.Lys5=) n.376A= c.451A= (p.Lys151=) | |
| 15 | g.98707843A>C | CA393697140 | IGF1R | c.376A>C (p.Lys126Gln) c.13A>C (p.Lys5Gln) n.376A>C c.451A>C (p.Lys151Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.98707843A>G | CA393697142 | IGF1R | c.376A>G (p.Lys126Glu) c.13A>G (p.Lys5Glu) n.376A>G c.451A>G (p.Lys151Glu) | |
| 15 | g.98707843A>T | CA393697141 | IGF1R | c.376A>T (p.Lys126Ter) c.13A>T (p.Lys5Ter) n.376A>T c.451A>T (p.Lys151Ter) | |
| 15 | g.98707844A>C | CA393697143 | IGF1R | c.377A>C (p.Lys126Thr) c.14A>C (p.Lys5Thr) n.377A>C c.452A>C (p.Lys151Thr) | |
| 15 | g.98707844A>G | CA393697144 | IGF1R | c.377A>G (p.Lys126Arg) c.14A>G (p.Lys5Arg) n.377A>G c.452A>G (p.Lys151Arg) | |
| 15 | g.98707844A>T | CA393697145 | IGF1R | c.377A>T (p.Lys126Met) c.14A>T (p.Lys5Met) n.377A>T c.452A>T (p.Lys151Met) | |
| 15 | g.98707845G>A | CA492686303 | IGF1R | c.378G>A (p.Lys126=) c.15G>A (p.Lys5=) n.378G>A c.453G>A (p.Lys151=) | |
| 15 | g.98707845G>C | CA393697146 | IGF1R | c.378G>C (p.Lys126Asn) c.15G>C (p.Lys5Asn) n.378G>C c.453G>C (p.Lys151Asn) | |
| 15 | g.98707845G>T | CA393697147 | IGF1R | c.378G>T (p.Lys126Asn) c.15G>T (p.Lys5Asn) n.378G>T c.453G>T (p.Lys151Asn) | |
| 15 | g.98707846G>A | CA393697148 | IGF1R | c.379G>A (p.Asp127Asn) c.16G>A (p.Asp6Asn) n.379G>A c.454G>A (p.Asp152Asn) | ClinVar dbSNP |
| 15 | g.98707846G>C | CA393697150 | IGF1R | c.379G>C (p.Asp127His) c.16G>C (p.Asp6His) n.379G>C c.454G>C (p.Asp152His) | dbSNP |
| 15 | g.98707846G= | CA2199177494 | IGF1R | c.379G= (p.Asp127=) c.16G= (p.Asp6=) n.379G= c.454G= (p.Asp152=) | |
| 15 | g.98707846G>T | CA393697149 | IGF1R | c.379G>T (p.Asp127Tyr) c.16G>T (p.Asp6Tyr) n.379G>T c.454G>T (p.Asp152Tyr) | |
| 15 | g.98707847A>C | CA393697151 | IGF1R | c.380A>C (p.Asp127Ala) c.17A>C (p.Asp6Ala) n.380A>C c.455A>C (p.Asp152Ala) | |
| 15 | g.98707847A>G | CA393697152 | IGF1R | c.380A>G (p.Asp127Gly) c.17A>G (p.Asp6Gly) n.380A>G c.455A>G (p.Asp152Gly) | |
| 15 | g.98707847A>T | CA393697153 | IGF1R | c.380A>T (p.Asp127Val) c.17A>T (p.Asp6Val) n.380A>T c.455A>T (p.Asp152Val) | |
| 15 | g.98707848T>A | CA393697154 | IGF1R | c.381T>A (p.Asp127Glu) c.18T>A (p.Asp6Glu) n.381T>A c.456T>A (p.Asp152Glu) | |
| 15 | g.98707848T>C | CA492686307 | IGF1R | c.381T>C (p.Asp127=) c.18T>C (p.Asp6=) n.381T>C c.456T>C (p.Asp152=) | |
| 15 | g.98707848T>G | CA393697155 | IGF1R | c.381T>G (p.Asp127Glu) c.18T>G (p.Asp6Glu) n.381T>G c.456T>G (p.Asp152Glu) | |
| 15 | g.98707849A= | CA2199177496 | IGF1R | c.382A= (p.Ile128=) c.19A= (p.Ile7=) n.382A= c.457A= (p.Ile153=) | |
| 15 | g.98707849A>C | CA393697156 | IGF1R | c.382A>C (p.Ile128Leu) c.19A>C (p.Ile7Leu) n.382A>C c.457A>C (p.Ile153Leu) | |
| 15 | g.98707849A>G | CA7751786 | IGF1R | c.382A>G (p.Ile128Val) c.19A>G (p.Ile7Val) n.382A>G c.457A>G (p.Ile153Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.98707849A>T | CA393697157 | IGF1R | c.382A>T (p.Ile128Phe) c.19A>T (p.Ile7Phe) n.382A>T c.457A>T (p.Ile153Phe) | |
| 15 | g.98707850T>A | CA393697158 | IGF1R | c.383T>A (p.Ile128Asn) c.20T>A (p.Ile7Asn) n.383T>A c.458T>A (p.Ile153Asn) | dbSNP |
| 15 | g.98707850T>C | CA393697159 | IGF1R | c.383T>C (p.Ile128Thr) c.20T>C (p.Ile7Thr) n.383T>C c.458T>C (p.Ile153Thr) | |
| 15 | g.98707850T>G | CA393697160 | IGF1R | c.383T>G (p.Ile128Ser) c.20T>G (p.Ile7Ser) n.383T>G c.458T>G (p.Ile153Ser) | |
| 15 | g.98707851T>A | CA492686311 | IGF1R | c.384T>A (p.Ile128=) c.21T>A (p.Ile7=) n.384T>A c.459T>A (p.Ile153=) | ClinVar |
| 15 | g.98707851T>C | CA492686312 | IGF1R | c.384T>C (p.Ile128=) c.21T>C (p.Ile7=) n.384T>C c.459T>C (p.Ile153=) | ClinVar dbSNP |
| 15 | g.98707851T>G | CA393697161 | IGF1R | c.384T>G (p.Ile128Met) c.21T>G (p.Ile7Met) n.384T>G c.459T>G (p.Ile153Met) | |
| 15 | g.98707851T= | CA2199177498 | IGF1R | c.384T= (p.Ile128=) c.21T= (p.Ile7=) n.384T= c.459T= (p.Ile153=) | |
| 15 | g.98707852G>A | CA393697162 | IGF1R | c.385G>A (p.Gly129Arg) c.22G>A (p.Gly8Arg) n.385G>A c.460G>A (p.Gly154Arg) | COSMIC |
| 15 | g.98707852G>C | CA393697164 | IGF1R | c.385G>C (p.Gly129Arg) c.22G>C (p.Gly8Arg) n.385G>C c.460G>C (p.Gly154Arg) | |
| 15 | g.98707852G>T | CA393697163 | IGF1R | c.385G>T (p.Gly129Trp) c.22G>T (p.Gly8Trp) n.385G>T c.460G>T (p.Gly154Trp) | |
| 15 | g.98707853G>A | CA393697165 | IGF1R | c.386G>A (p.Gly129Glu) c.23G>A (p.Gly8Glu) n.386G>A c.461G>A (p.Gly154Glu) | |
| 15 | g.98707853G>C | CA393697166 | IGF1R | c.386G>C (p.Gly129Ala) c.23G>C (p.Gly8Ala) n.386G>C c.461G>C (p.Gly154Ala) | COSMIC |
| 15 | g.98707853G>T | CA393697167 | IGF1R | c.386G>T (p.Gly129Val) c.23G>T (p.Gly8Val) n.386G>T c.461G>T (p.Gly154Val) | dbSNP |
| 15 | g.98707854G>A | CA492686316 | IGF1R | c.387G>A (p.Gly129=) c.24G>A (p.Gly8=) n.387G>A c.462G>A (p.Gly154=) | gnomAD v4 COSMIC |
| 15 | g.98707854G>C | CA492686318 | IGF1R | c.387G>C (p.Gly129=) c.24G>C (p.Gly8=) n.387G>C c.462G>C (p.Gly154=) | |
| 15 | g.98707854G>T | CA492686317 | IGF1R | c.387G>T (p.Gly129=) c.24G>T (p.Gly8=) n.387G>T c.462G>T (p.Gly154=) | gnomAD v4 |
| 15 | g.98707855C>A | CA393697168 | IGF1R | c.388C>A (p.Leu130Ile) c.25C>A (p.Leu9Ile) n.388C>A c.463C>A (p.Leu155Ile) | |
| 15 | g.98707855C>G | CA393697169 | IGF1R | c.388C>G (p.Leu130Val) c.25C>G (p.Leu9Val) n.388C>G c.463C>G (p.Leu155Val) | |
| 15 | g.98707855C>T | CA393697170 | IGF1R | c.388C>T (p.Leu130Phe) c.25C>T (p.Leu9Phe) n.388C>T c.463C>T (p.Leu155Phe) | |
| 15 | g.98707856T>A | CA393697171 | IGF1R | c.389T>A (p.Leu130His) c.26T>A (p.Leu9His) n.389T>A c.464T>A (p.Leu155His) | |
| 15 | g.98707856T>C | CA393697172 | IGF1R | c.389T>C (p.Leu130Pro) c.26T>C (p.Leu9Pro) n.389T>C c.464T>C (p.Leu155Pro) | |
| 15 | g.98707856T>G | CA393697173 | IGF1R | c.389T>G (p.Leu130Arg) c.26T>G (p.Leu9Arg) n.389T>G c.464T>G (p.Leu155Arg) | |
| 15 | g.98707857T>A | CA492686321 | IGF1R | c.390T>A (p.Leu130=) c.27T>A (p.Leu9=) n.390T>A c.465T>A (p.Leu155=) | |
| 15 | g.98707857T>C | CA492686322 | IGF1R | c.390T>C (p.Leu130=) c.27T>C (p.Leu9=) n.390T>C c.465T>C (p.Leu155=) | |
| 15 | g.98707857T>G | CA492686323 | IGF1R | c.390T>G (p.Leu130=) c.27T>G (p.Leu9=) n.390T>G c.465T>G (p.Leu155=) | |
| 15 | g.98707858T>A | CA393697174 | IGF1R | c.391T>A (p.Tyr131Asn) c.28T>A (p.Tyr10Asn) n.391T>A c.466T>A (p.Tyr156Asn) | |
| 15 | g.98707858T>C | CA393697175 | IGF1R | c.391T>C (p.Tyr131His) c.28T>C (p.Tyr10His) n.391T>C c.466T>C (p.Tyr156His) | |
| 15 | g.98707858T>G | CA393697176 | IGF1R | c.391T>G (p.Tyr131Asp) c.28T>G (p.Tyr10Asp) n.391T>G c.466T>G (p.Tyr156Asp) | |
| 15 | g.98707859A>C | CA393697179 | IGF1R | c.392A>C (p.Tyr131Ser) c.29A>C (p.Tyr10Ser) n.392A>C c.467A>C (p.Tyr156Ser) | dbSNP |
| 15 | g.98707859A>G | CA393697178 | IGF1R | c.392A>G (p.Tyr131Cys) c.29A>G (p.Tyr10Cys) n.392A>G c.467A>G (p.Tyr156Cys) | |
| 15 | g.98707859A>T | CA393697177 | IGF1R | c.392A>T (p.Tyr131Phe) c.29A>T (p.Tyr10Phe) n.392A>T c.467A>T (p.Tyr156Phe) | |
| 15 | g.98707860C>A | CA393697180 | IGF1R | c.393C>A (p.Tyr131Ter) c.30C>A (p.Tyr10Ter) n.393C>A c.468C>A (p.Tyr156Ter) | |
| 15 | g.98707860C>G | CA393697181 | IGF1R | c.393C>G (p.Tyr131Ter) c.30C>G (p.Tyr10Ter) n.393C>G c.468C>G (p.Tyr156Ter) | |
| 15 | g.98707860C>T | CA492686327 | IGF1R | c.393C>T (p.Tyr131=) c.30C>T (p.Tyr10=) n.393C>T c.468C>T (p.Tyr156=) | dbSNP |
| 15 | g.98707861A>C | CA393697182 | IGF1R | c.394A>C (p.Asn132His) c.31A>C (p.Asn11His) n.394A>C c.469A>C (p.Asn157His) | |
| 15 | g.98707861A>G | CA393697183 | IGF1R | c.394A>G (p.Asn132Asp) c.31A>G (p.Asn11Asp) n.394A>G c.469A>G (p.Asn157Asp) | |
| 15 | g.98707861A>T | CA393697184 | IGF1R | c.394A>T (p.Asn132Tyr) c.31A>T (p.Asn11Tyr) n.394A>T c.469A>T (p.Asn157Tyr) | |
| 15 | g.98707862A= | CA2199177499 | IGF1R | c.395A= (p.Asn132=) c.32A= (p.Asn11=) n.395A= c.470A= (p.Asn157=) | |
| 15 | g.98707862A>C | CA393697185 | IGF1R | c.395A>C (p.Asn132Thr) c.32A>C (p.Asn11Thr) n.395A>C c.470A>C (p.Asn157Thr) | |
| 15 | g.98707862A>G | CA393697186 | IGF1R | c.395A>G (p.Asn132Ser) c.32A>G (p.Asn11Ser) n.395A>G c.470A>G (p.Asn157Ser) | dbSNP |
| 15 | g.98707862A>T | CA393697187 | IGF1R | c.395A>T (p.Asn132Ile) c.32A>T (p.Asn11Ile) n.395A>T c.470A>T (p.Asn157Ile) | |
| 15 | g.98707863C>A | CA393697188 | IGF1R | c.396C>A (p.Asn132Lys) c.33C>A (p.Asn11Lys) n.396C>A c.471C>A (p.Asn157Lys) | dbSNP |
| 15 | g.98707863C= | CA2199177500 | IGF1R | c.396C= (p.Asn132=) c.33C= (p.Asn11=) n.396C= c.471C= (p.Asn157=) | |
| 15 | g.98707863C>G | CA393697189 | IGF1R | c.396C>G (p.Asn132Lys) c.33C>G (p.Asn11Lys) n.396C>G c.471C>G (p.Asn157Lys) | dbSNP |
| 15 | g.98707863C>T | CA492686328 | IGF1R | c.396C>T (p.Asn132=) c.33C>T (p.Asn11=) n.396C>T c.471C>T (p.Asn157=) | gnomAD v4 |
| 15 | g.98707864C>A | CA393697190 | IGF1R | c.397C>A (p.Leu133Met) c.34C>A (p.Leu12Met) n.397C>A c.472C>A (p.Leu158Met) | |
| 15 | g.98707864C>G | CA393697191 | IGF1R | c.397C>G (p.Leu133Val) c.34C>G (p.Leu12Val) n.397C>G c.472C>G (p.Leu158Val) | |
| 15 | g.98707864C>T | CA492686330 | IGF1R | c.397C>T (p.Leu133=) c.34C>T (p.Leu12=) n.397C>T c.472C>T (p.Leu158=) | |
| 15 | g.98707865T>A | CA393697194 | IGF1R | c.398T>A (p.Leu133Gln) c.35T>A (p.Leu12Gln) n.398T>A c.473T>A (p.Leu158Gln) | |
| 15 | g.98707865T>C | CA393697192 | IGF1R | c.398T>C (p.Leu133Pro) c.35T>C (p.Leu12Pro) n.398T>C c.473T>C (p.Leu158Pro) | |
| 15 | g.98707865T>G | CA393697193 | IGF1R | c.398T>G (p.Leu133Arg) c.35T>G (p.Leu12Arg) n.398T>G c.473T>G (p.Leu158Arg) | |
| 15 | g.98707866G>A | CA492686333 | IGF1R | c.399G>A (p.Leu133=) c.36G>A (p.Leu12=) n.399G>A c.474G>A (p.Leu158=) | dbSNP |
| 15 | g.98707866G>C | CA492686334 | IGF1R | c.399G>C (p.Leu133=) c.36G>C (p.Leu12=) n.399G>C c.474G>C (p.Leu158=) | |
| 15 | g.98707866G= | CA2199177501 | IGF1R | c.399G= (p.Leu133=) c.36G= (p.Leu12=) n.399G= c.474G= (p.Leu158=) | |
| 15 | g.98707866G>T | CA492686335 | IGF1R | c.399G>T (p.Leu133=) c.36G>T (p.Leu12=) n.399G>T c.474G>T (p.Leu158=) | |
| 15 | g.98707867A>C | CA492686336 | IGF1R | c.400A>C (p.Arg134=) c.37A>C (p.Arg13=) n.400A>C c.475A>C (p.Arg159=) | |
| 15 | g.98707867A>G | CA393697195 | IGF1R | c.400A>G (p.Arg134Gly) c.37A>G (p.Arg13Gly) n.400A>G c.475A>G (p.Arg159Gly) | |
| 15 | g.98707867A>T | CA393697196 | IGF1R | c.400A>T (p.Arg134Trp) c.37A>T (p.Arg13Trp) n.400A>T c.475A>T (p.Arg159Trp) | |
| 15 | g.98707868G>A | CA7751787 | IGF1R | c.401G>A (p.Arg134Lys) c.38G>A (p.Arg13Lys) n.401G>A c.476G>A (p.Arg159Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.98707868G>C | CA393697197 | IGF1R | c.401G>C (p.Arg134Thr) c.38G>C (p.Arg13Thr) n.401G>C c.476G>C (p.Arg159Thr) | |
| 15 | g.98707868G= | CA2199177502 | IGF1R | c.401G= (p.Arg134=) c.38G= (p.Arg13=) n.401G= c.476G= (p.Arg159=) | |
| 15 | g.98707868G>T | CA393697198 | IGF1R | c.401G>T (p.Arg134Met) c.38G>T (p.Arg13Met) n.401G>T c.476G>T (p.Arg159Met) | |
| 15 | g.98707869G>A | CA7751788 | IGF1R | c.402G>A (p.Arg134=) c.39G>A (p.Arg13=) n.402G>A c.477G>A (p.Arg159=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.98707869G>C | CA275819414 | IGF1R | c.402G>C (p.Arg134Ser) c.39G>C (p.Arg13Ser) n.402G>C c.477G>C (p.Arg159Ser) | dbSNP |
| 15 | g.98707869G= | CA2199177503 | IGF1R | c.402G= (p.Arg134=) c.39G= (p.Arg13=) n.402G= c.477G= (p.Arg159=) | |
| 15 | g.98707869G>T | CA393697199 | IGF1R | c.402G>T (p.Arg134Ser) c.39G>T (p.Arg13Ser) n.402G>T c.477G>T (p.Arg159Ser) | |
| 15 | g.98707870A>C | CA393697200 | IGF1R | c.403A>C (p.Asn135His) c.40A>C (p.Asn14His) n.403A>C c.478A>C (p.Asn160His) | |
| 15 | g.98707870A>G | CA393697202 | IGF1R | c.403A>G (p.Asn135Asp) c.40A>G (p.Asn14Asp) n.403A>G c.478A>G (p.Asn160Asp) | |
| 15 | g.98707870A>T | CA393697201 | IGF1R | c.403A>T (p.Asn135Tyr) c.40A>T (p.Asn14Tyr) n.403A>T c.478A>T (p.Asn160Tyr) | |
| 15 | g.98707871A>C | CA393697203 | IGF1R | c.404A>C (p.Asn135Thr) c.41A>C (p.Asn14Thr) n.404A>C c.479A>C (p.Asn160Thr) | |
| 15 | g.98707871A>G | CA393697204 | IGF1R | c.404A>G (p.Asn135Ser) c.41A>G (p.Asn14Ser) n.404A>G c.479A>G (p.Asn160Ser) | ClinVar gnomAD v4 |
| 15 | g.98707871A>T | CA393697205 | IGF1R | c.404A>T (p.Asn135Ile) c.41A>T (p.Asn14Ile) n.404A>T c.479A>T (p.Asn160Ile) | |
| 15 | g.98707872C>A | CA393697206 | IGF1R | c.405C>A (p.Asn135Lys) c.42C>A (p.Asn14Lys) n.405C>A c.480C>A (p.Asn160Lys) | |
| 15 | g.98707872C>G | CA393697207 | IGF1R | c.405C>G (p.Asn135Lys) c.42C>G (p.Asn14Lys) n.405C>G c.480C>G (p.Asn160Lys) | |
| 15 | g.98707872C>T | CA492686339 | IGF1R | c.405C>T (p.Asn135=) c.42C>T (p.Asn14=) n.405C>T c.480C>T (p.Asn160=) | |
| 15 | g.98707873A= | CA2199177504 | IGF1R | c.406A= (p.Ile136=) c.43A= (p.Ile15=) n.406A= c.481A= (p.Ile161=) | |
| 15 | g.98707873A>C | CA393697208 | IGF1R | c.406A>C (p.Ile136Leu) c.43A>C (p.Ile15Leu) n.406A>C c.481A>C (p.Ile161Leu) | |
| 15 | g.98707873A>G | CA393697210 | IGF1R | c.406A>G (p.Ile136Val) c.43A>G (p.Ile15Val) n.406A>G c.481A>G (p.Ile161Val) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.98707873A>T | CA393697209 | IGF1R | c.406A>T (p.Ile136Phe) c.43A>T (p.Ile15Phe) n.406A>T c.481A>T (p.Ile161Phe) | |
| 15 | g.98707874T>A | CA393697211 | IGF1R | c.407T>A (p.Ile136Asn) c.44T>A (p.Ile15Asn) n.407T>A c.482T>A (p.Ile161Asn) | |
| 15 | g.98707874T>C | CA393697212 | IGF1R | c.407T>C (p.Ile136Thr) c.44T>C (p.Ile15Thr) n.407T>C c.482T>C (p.Ile161Thr) | |
| 15 | g.98707874T>G | CA393697213 | IGF1R | c.407T>G (p.Ile136Ser) c.44T>G (p.Ile15Ser) n.407T>G c.482T>G (p.Ile161Ser) | |
| 15 | g.98707875T>A | CA492686340 | IGF1R | c.408T>A (p.Ile136=) c.45T>A (p.Ile15=) n.408T>A c.483T>A (p.Ile161=) | |
| 15 | g.98707875T>C | CA492686341 | IGF1R | c.408T>C (p.Ile136=) c.45T>C (p.Ile15=) n.408T>C c.483T>C (p.Ile161=) | |
| 15 | g.98707875T>G | CA393697214 | IGF1R | c.408T>G (p.Ile136Met) c.45T>G (p.Ile15Met) n.408T>G c.483T>G (p.Ile161Met) | |
| 15 | g.98707876A>C | CA393697215 | IGF1R | c.409A>C (p.Thr137Pro) c.46A>C (p.Thr16Pro) n.409A>C c.484A>C (p.Thr162Pro) | |
| 15 | g.98707876A>G | CA393697216 | IGF1R | c.409A>G (p.Thr137Ala) c.46A>G (p.Thr16Ala) n.409A>G c.484A>G (p.Thr162Ala) | |
| 15 | g.98707876A>T | CA393697217 | IGF1R | c.409A>T (p.Thr137Ser) c.46A>T (p.Thr16Ser) n.409A>T c.484A>T (p.Thr162Ser) | dbSNP |
| 15 | g.98707877C>A | CA393697218 | IGF1R | c.410C>A (p.Thr137Asn) c.47C>A (p.Thr16Asn) n.410C>A c.485C>A (p.Thr162Asn) | dbSNP |
| 15 | g.98707877C= | CA2199177505 | IGF1R | c.410C= (p.Thr137=) c.47C= (p.Thr16=) n.410C= c.485C= (p.Thr162=) | |
| 15 | g.98707877C>G | CA393697219 | IGF1R | c.410C>G (p.Thr137Ser) c.47C>G (p.Thr16Ser) n.410C>G c.485C>G (p.Thr162Ser) | |
| 15 | g.98707877C>T | CA393697220 | IGF1R | c.410C>T (p.Thr137Ile) c.47C>T (p.Thr16Ile) n.410C>T c.485C>T (p.Thr162Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.98707878T>A | CA492686343 | IGF1R | c.411T>A (p.Thr137=) c.48T>A (p.Thr16=) n.411T>A c.486T>A (p.Thr162=) | |
| 15 | g.98707878T>C | CA492686344 | IGF1R | c.411T>C (p.Thr137=) c.48T>C (p.Thr16=) n.411T>C c.486T>C (p.Thr162=) | |
| 15 | g.98707878T>G | CA492686345 | IGF1R | c.411T>G (p.Thr137=) c.48T>G (p.Thr16=) n.411T>G c.486T>G (p.Thr162=) | |
| 15 | g.98707879C>A | CA492686346 | IGF1R | c.412C>A (p.Arg138=) c.49C>A (p.Arg17=) n.412C>A c.487C>A (p.Arg163=) | |
| 15 | g.98707879C= | CA2199177507 | IGF1R | c.412C= (p.Arg138=) c.49C= (p.Arg17=) n.412C= c.487C= (p.Arg163=) | |
| 15 | g.98707879C>G | CA393697221 | IGF1R | c.412C>G (p.Arg138Gly) c.49C>G (p.Arg17Gly) n.412C>G c.487C>G (p.Arg163Gly) | dbSNP |
| 15 | g.98707879C>T | CA275819415 | IGF1R | c.412C>T (p.Arg138Trp) c.49C>T (p.Arg17Trp) n.412C>T c.487C>T (p.Arg163Trp) | dbSNP gnomAD v4 |
| 15 | g.98707879_98707880delinsCG | CA2199177506 | IGF1R | c.412_413delinsCG (p.Arg138=) c.49_50delinsCG (p.Arg17=) n.412_413delinsCG c.487_488delinsCG (p.Arg163=) | |
| 15 | g.98707880G>A | CA124307 | IGF1R | c.413G>A (p.Arg138Gln) c.50G>A (p.Arg17Gln) n.413G>A c.488G>A (p.Arg163Gln) | ClinVar dbSNP |
| 15 | g.98707880G>C | CA393697222 | IGF1R | c.413G>C (p.Arg138Pro) c.50G>C (p.Arg17Pro) n.413G>C c.488G>C (p.Arg163Pro) | |
| 15 | g.98707880G= | CA2199177508 | IGF1R | c.413G= (p.Arg138=) c.50G= (p.Arg17=) n.413G= c.488G= (p.Arg163=) | |
| 15 | g.98707880G>T | CA7751791 | IGF1R | c.413G>T (p.Arg138Leu) c.50G>T (p.Arg17Leu) n.413G>T c.488G>T (p.Arg163Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.98707885dup | CA7751789 | IGF1R | c.418dup (p.Ala140GlyfsTer5) c.55dup (p.Ala19GlyfsTer5) n.418dup c.493dup (p.Ala165GlyfsTer5) | ClinVar dbSNP ExAC |
| 15 | g.98707884_98707885dup | CA2805410459 | IGF1R | c.417_418dup (p.Ala140GlyfsTer21) c.54_55dup (p.Ala19GlyfsTer21) n.417_418dup c.492_493dup (p.Ala165GlyfsTer21) | |
| 15 | g.98707885del | CA7751790 | IGF1R | c.418del (p.Ala140ProfsTer20) c.55del (p.Ala19ProfsTer20) n.418del c.493del (p.Ala165ProfsTer20) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.98707881G>A | CA492686352 | IGF1R | c.414G>A (p.Arg138=) c.51G>A (p.Arg17=) n.414G>A c.489G>A (p.Arg163=) | gnomAD v4 |
| 15 | g.98707881G>C | CA492686353 | IGF1R | c.414G>C (p.Arg138=) c.51G>C (p.Arg17=) n.414G>C c.489G>C (p.Arg163=) | |
| 15 | g.98707881G>T | CA492686354 | IGF1R | c.414G>T (p.Arg138=) c.51G>T (p.Arg17=) n.414G>T c.489G>T (p.Arg163=) | |
| 15 | g.98707882G>A | CA393697225 | IGF1R | c.415G>A (p.Gly139Arg) c.52G>A (p.Gly18Arg) n.415G>A c.490G>A (p.Gly164Arg) | |
| 15 | g.98707882G>C | CA393697223 | IGF1R | c.415G>C (p.Gly139Arg) c.52G>C (p.Gly18Arg) n.415G>C c.490G>C (p.Gly164Arg) | |
| 15 | g.98707882G>T | CA393697224 | IGF1R | c.415G>T (p.Gly139Trp) c.52G>T (p.Gly18Trp) n.415G>T c.490G>T (p.Gly164Trp) | |
| 15 | g.98707883G>A | CA393697226 | IGF1R | c.416G>A (p.Gly139Glu) c.53G>A (p.Gly18Glu) n.416G>A c.491G>A (p.Gly164Glu) | dbSNP |
| 15 | g.98707883G>C | CA393697227 | IGF1R | c.416G>C (p.Gly139Ala) c.53G>C (p.Gly18Ala) n.416G>C c.491G>C (p.Gly164Ala) | |
| 15 | g.98707883G>T | CA393697228 | IGF1R | c.416G>T (p.Gly139Val) c.53G>T (p.Gly18Val) n.416G>T c.491G>T (p.Gly164Val) | |
| 15 | g.98707884G>A | CA492686356 | IGF1R | c.417G>A (p.Gly139=) c.54G>A (p.Gly18=) n.417G>A c.492G>A (p.Gly164=) | dbSNP gnomAD v4 |
| 15 | g.98707884G>C | CA492686359 | IGF1R | c.417G>C (p.Gly139=) c.54G>C (p.Gly18=) n.417G>C c.492G>C (p.Gly164=) | |
| 15 | g.98707884G>T | CA492686357 | IGF1R | c.417G>T (p.Gly139=) c.54G>T (p.Gly18=) n.417G>T c.492G>T (p.Gly164=) | |
| 15 | g.98707885G>A | CA393697229 | IGF1R | c.418G>A (p.Ala140Thr) c.55G>A (p.Ala19Thr) n.418G>A c.493G>A (p.Ala165Thr) | dbSNP gnomAD v4 |
| 15 | g.98707885G>C | CA393697230 | IGF1R | c.418G>C (p.Ala140Pro) c.55G>C (p.Ala19Pro) n.418G>C c.493G>C (p.Ala165Pro) | dbSNP |
| 15 | g.98707885G= | CA2199177509 | IGF1R | c.418G= (p.Ala140=) c.55G= (p.Ala19=) n.418G= c.493G= (p.Ala165=) | |
| 15 | g.98707885G>T | CA393697231 | IGF1R | c.418G>T (p.Ala140Ser) c.55G>T (p.Ala19Ser) n.418G>T c.493G>T (p.Ala165Ser) | |
| 15 | g.98707886C>A | CA393697232 | IGF1R | c.419C>A (p.Ala140Asp) c.56C>A (p.Ala19Asp) n.419C>A c.494C>A (p.Ala165Asp) | gnomAD v4 |
| 15 | g.98707886C= | CA2199177510 | IGF1R | c.419C= (p.Ala140=) c.56C= (p.Ala19=) n.419C= c.494C= (p.Ala165=) | |
| 15 | g.98707886C>G | CA393697233 | IGF1R | c.419C>G (p.Ala140Gly) c.56C>G (p.Ala19Gly) n.419C>G c.494C>G (p.Ala165Gly) | dbSNP |
| 15 | g.98707886C>T | CA275819421 | IGF1R | c.419C>T (p.Ala140Val) c.56C>T (p.Ala19Val) n.419C>T c.494C>T (p.Ala165Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.98707887del | CA2695221147 | IGF1R | c.420del (p.Ile141SerfsTer19) c.57del (p.Ile20SerfsTer19) n.420del c.495del (p.Ile166SerfsTer19) | |
| 15 | g.98707887C>A | CA492686378 | IGF1R | c.420C>A (p.Ala140=) c.57C>A (p.Ala19=) n.420C>A c.495C>A (p.Ala165=) | |
| 15 | g.98707887C>G | CA492686381 | IGF1R | c.420C>G (p.Ala140=) c.57C>G (p.Ala19=) n.420C>G c.495C>G (p.Ala165=) | |
| 15 | g.98707887C>T | CA492686383 | IGF1R | c.420C>T (p.Ala140=) c.57C>T (p.Ala19=) n.420C>T c.495C>T (p.Ala165=) | |
| 15 | g.98707888A>C | CA393697236 | IGF1R | c.421A>C (p.Ile141Leu) c.58A>C (p.Ile20Leu) n.421A>C c.496A>C (p.Ile166Leu) | |
| 15 | g.98707888A>G | CA393697235 | IGF1R | c.421A>G (p.Ile141Val) c.58A>G (p.Ile20Val) n.421A>G c.496A>G (p.Ile166Val) | |
| 15 | g.98707888A>T | CA393697234 | IGF1R | c.421A>T (p.Ile141Phe) c.58A>T (p.Ile20Phe) n.421A>T c.496A>T (p.Ile166Phe) | |
| 15 | g.98707889T>A | CA393697237 | IGF1R | c.422T>A (p.Ile141Asn) c.59T>A (p.Ile20Asn) n.422T>A c.497T>A (p.Ile166Asn) | |
| 15 | g.98707889T>C | CA393697238 | IGF1R | c.422T>C (p.Ile141Thr) c.59T>C (p.Ile20Thr) n.422T>C c.497T>C (p.Ile166Thr) | |
| 15 | g.98707889T>G | CA393697239 | IGF1R | c.422T>G (p.Ile141Ser) c.59T>G (p.Ile20Ser) n.422T>G c.497T>G (p.Ile166Ser) | |
| 15 | g.98707890C>A | CA492686387 | IGF1R | c.423C>A (p.Ile141=) c.60C>A (p.Ile20=) n.423C>A c.498C>A (p.Ile166=) | |
| 15 | g.98707890C= | CA2199177511 | IGF1R | c.423C= (p.Ile141=) c.60C= (p.Ile20=) n.423C= c.498C= (p.Ile166=) | |
| 15 | g.98707890C>G | CA393697240 | IGF1R | c.423C>G (p.Ile141Met) c.60C>G (p.Ile20Met) n.423C>G c.498C>G (p.Ile166Met) | dbSNP |
| 15 | g.98707890C>T | CA7751792 | IGF1R | c.423C>T (p.Ile141=) c.60C>T (p.Ile20=) n.423C>T c.498C>T (p.Ile166=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.98707891A>C | CA492686388 | IGF1R | c.424A>C (p.Arg142=) c.61A>C (p.Arg21=) n.424A>C c.499A>C (p.Arg167=) | |
| 15 | g.98707891A>G | CA393697241 | IGF1R | c.424A>G (p.Arg142Gly) c.61A>G (p.Arg21Gly) n.424A>G c.499A>G (p.Arg167Gly) | |
| 15 | g.98707891A>T | CA393697242 | IGF1R | c.424A>T (p.Arg142Trp) c.61A>T (p.Arg21Trp) n.424A>T c.499A>T (p.Arg167Trp) | |
| 15 | g.98707892G>A | CA393697243 | IGF1R | c.425G>A (p.Arg142Lys) c.62G>A (p.Arg21Lys) n.425G>A c.500G>A (p.Arg167Lys) | dbSNP |
| 15 | g.98707892G>C | CA393697244 | IGF1R | c.425G>C (p.Arg142Thr) c.62G>C (p.Arg21Thr) n.425G>C c.500G>C (p.Arg167Thr) | dbSNP |
| 15 | g.98707892G>T | CA393697245 | IGF1R | c.425G>T (p.Arg142Met) c.62G>T (p.Arg21Met) n.425G>T c.500G>T (p.Arg167Met) | |
| 15 | g.98707893G>A | CA492686391 | IGF1R | c.426G>A (p.Arg142=) c.63G>A (p.Arg21=) n.426G>A c.501G>A (p.Arg167=) | dbSNP |
| 15 | g.98707893G>C | CA393697246 | IGF1R | c.426G>C (p.Arg142Ser) c.63G>C (p.Arg21Ser) n.426G>C c.501G>C (p.Arg167Ser) | |
| 15 | g.98707893G>T | CA393697247 | IGF1R | c.426G>T (p.Arg142Ser) c.63G>T (p.Arg21Ser) n.426G>T c.501G>T (p.Arg167Ser) | |
| 15 | g.98707894A= | CA2199177512 | IGF1R | c.427A= (p.Ile143=) c.64A= (p.Ile22=) n.427A= c.502A= (p.Ile168=) | |
| 15 | g.98707894A>C | CA393697249 | IGF1R | c.427A>C (p.Ile143Leu) c.64A>C (p.Ile22Leu) n.427A>C c.502A>C (p.Ile168Leu) | |
| 15 | g.98707894A>G | CA275819424 | IGF1R | c.427A>G (p.Ile143Val) c.64A>G (p.Ile22Val) n.427A>G c.502A>G (p.Ile168Val) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.98707894A>T | CA393697248 | IGF1R | c.427A>T (p.Ile143Phe) c.64A>T (p.Ile22Phe) n.427A>T c.502A>T (p.Ile168Phe) | dbSNP |
| 15 | g.98707895T>A | CA393697250 | IGF1R | c.428T>A (p.Ile143Asn) c.65T>A (p.Ile22Asn) n.428T>A c.503T>A (p.Ile168Asn) | dbSNP |
| 15 | g.98707895T>C | CA393697252 | IGF1R | c.428T>C (p.Ile143Thr) c.65T>C (p.Ile22Thr) n.428T>C c.503T>C (p.Ile168Thr) | |
| 15 | g.98707895T>G | CA393697251 | IGF1R | c.428T>G (p.Ile143Ser) c.65T>G (p.Ile22Ser) n.428T>G c.503T>G (p.Ile168Ser) | |
| 15 | g.98707896T>A | CA492686395 | IGF1R | c.429T>A (p.Ile143=) c.66T>A (p.Ile22=) n.429T>A c.504T>A (p.Ile168=) | |
| 15 | g.98707896T>C | CA492686396 | IGF1R | c.429T>C (p.Ile143=) c.66T>C (p.Ile22=) n.429T>C c.504T>C (p.Ile168=) | |
| 15 | g.98707896T>G | CA393697253 | IGF1R | c.429T>G (p.Ile143Met) c.66T>G (p.Ile22Met) n.429T>G c.504T>G (p.Ile168Met) | gnomAD v4 |
| 15 | g.98707897G>A | CA393697254 | IGF1R | c.430G>A (p.Glu144Lys) c.67G>A (p.Glu23Lys) n.430G>A c.505G>A (p.Glu169Lys) | dbSNP |
| 15 | g.98707897G>C | CA393697255 | IGF1R | c.430G>C (p.Glu144Gln) c.67G>C (p.Glu23Gln) n.430G>C c.505G>C (p.Glu169Gln) | |
| 15 | g.98707897G>T | CA393697256 | IGF1R | c.430G>T (p.Glu144Ter) c.67G>T (p.Glu23Ter) n.430G>T c.505G>T (p.Glu169Ter) | |
| 15 | g.98707898A>C | CA393697257 | IGF1R | c.431A>C (p.Glu144Ala) c.68A>C (p.Glu23Ala) n.431A>C c.506A>C (p.Glu169Ala) | |
| 15 | g.98707898A>G | CA393697258 | IGF1R | c.431A>G (p.Glu144Gly) c.68A>G (p.Glu23Gly) n.431A>G c.506A>G (p.Glu169Gly) | |
| 15 | g.98707898A>T | CA393697259 | IGF1R | c.431A>T (p.Glu144Val) c.68A>T (p.Glu23Val) n.431A>T c.506A>T (p.Glu169Val) | |
| 15 | g.98707899G>A | CA275819426 | IGF1R | c.432G>A (p.Glu144=) c.69G>A (p.Glu23=) n.432G>A c.507G>A (p.Glu169=) | dbSNP |
| 15 | g.98707899G>C | CA393697260 | IGF1R | c.432G>C (p.Glu144Asp) c.69G>C (p.Glu23Asp) n.432G>C c.507G>C (p.Glu169Asp) | |
| 15 | g.98707899G= | CA2199177513 | IGF1R | c.432G= (p.Glu144=) c.69G= (p.Glu23=) n.432G= c.507G= (p.Glu169=) | |
| 15 | g.98707899G>T | CA393697261 | IGF1R | c.432G>T (p.Glu144Asp) c.69G>T (p.Glu23Asp) n.432G>T c.507G>T (p.Glu169Asp) | |
| 15 | g.98707900A>C | CA393697262 | IGF1R | c.433A>C (p.Lys145Gln) c.70A>C (p.Lys24Gln) n.433A>C c.508A>C (p.Lys170Gln) | |
| 15 | g.98707900A>G | CA393697263 | IGF1R | c.433A>G (p.Lys145Glu) c.70A>G (p.Lys24Glu) n.433A>G c.508A>G (p.Lys170Glu) | |
| 15 | g.98707900A>T | CA393697264 | IGF1R | c.433A>T (p.Lys145Ter) c.70A>T (p.Lys24Ter) n.433A>T c.508A>T (p.Lys170Ter) | |
| 15 | g.98707901A>C | CA393697267 | IGF1R | c.434A>C (p.Lys145Thr) c.71A>C (p.Lys24Thr) n.434A>C c.509A>C (p.Lys170Thr) | |
| 15 | g.98707901A>G | CA393697265 | IGF1R | c.434A>G (p.Lys145Arg) c.71A>G (p.Lys24Arg) n.434A>G c.509A>G (p.Lys170Arg) | |
| 15 | g.98707901A>T | CA393697266 | IGF1R | c.434A>T (p.Lys145Ile) c.71A>T (p.Lys24Ile) n.434A>T c.509A>T (p.Lys170Ile) | |
| 15 | g.98707902A= | CA2199177514 | IGF1R | c.435A= (p.Lys145=) c.72A= (p.Lys24=) n.435A= c.510A= (p.Lys170=) | |
| 15 | g.98707902A>C | CA124309 | IGF1R | c.435A>C (p.Lys145Asn) c.72A>C (p.Lys24Asn) n.435A>C c.510A>C (p.Lys170Asn) | ClinVar dbSNP |
| 15 | g.98707902A>G | CA7751793 | IGF1R | c.435A>G (p.Lys145=) c.72A>G (p.Lys24=) n.435A>G c.510A>G (p.Lys170=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.98707902A>T | CA393697268 | IGF1R | c.435A>T (p.Lys145Asn) c.72A>T (p.Lys24Asn) n.435A>T c.510A>T (p.Lys170Asn) | |
| 15 | g.98707903A>C | CA393697269 | IGF1R | c.436A>C (p.Asn146His) c.73A>C (p.Asn25His) n.436A>C c.511A>C (p.Asn171His) | |
| 15 | g.98707903A>G | CA393697270 | IGF1R | c.436A>G (p.Asn146Asp) c.73A>G (p.Asn25Asp) n.436A>G c.511A>G (p.Asn171Asp) | ClinVar dbSNP |
| 15 | g.98707903A>T | CA393697271 | IGF1R | c.436A>T (p.Asn146Tyr) c.73A>T (p.Asn25Tyr) n.436A>T c.511A>T (p.Asn171Tyr) | |
| 15 | g.98707904A>C | CA393697272 | IGF1R | c.437A>C (p.Asn146Thr) c.74A>C (p.Asn25Thr) n.437A>C c.512A>C (p.Asn171Thr) | |
| 15 | g.98707904A>G | CA393697273 | IGF1R | c.437A>G (p.Asn146Ser) c.74A>G (p.Asn25Ser) n.437A>G c.512A>G (p.Asn171Ser) | |
| 15 | g.98707904A>T | CA393697274 | IGF1R | c.437A>T (p.Asn146Ile) c.74A>T (p.Asn25Ile) n.437A>T c.512A>T (p.Asn171Ile) |