| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.80026849C>A | CA413740930 | TBX22 | c.779C>A (p.Thr260Lys) c.*391C>A (n.*391C>A) n.658C>A c.419C>A (p.Thr140Lys) c.782C>A (p.Thr261Lys) | |
| X | g.80026849C= | CA2439980778 | TBX22 | c.779C= (p.Thr260=) c.*391C= (n.*391C=) n.658C= c.419C= (p.Thr140=) c.782C= (p.Thr261=) | |
| X | g.80026849C>G | CA413740931 | TBX22 | c.779C>G (p.Thr260Arg) c.*391C>G (n.*391C>G) n.658C>G c.419C>G (p.Thr140Arg) c.782C>G (p.Thr261Arg) | |
| X | g.80026849C>T | CA121423 | TBX22 | c.779C>T (p.Thr260Met) c.*391C>T (n.*391C>T) n.658C>T c.419C>T (p.Thr140Met) c.782C>T (p.Thr261Met) | ClinVar dbSNP COSMIC |
| X | g.80026850G>A | CA10461295 | TBX22 | c.780G>A (p.Thr260=) c.*392G>A (n.*392G>A) n.659G>A c.420G>A (p.Thr140=) c.783G>A (p.Thr261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.80026850G>C | CA517403097 | TBX22 | c.780G>C (p.Thr260=) c.*392G>C (n.*392G>C) n.659G>C c.420G>C (p.Thr140=) c.783G>C (p.Thr261=) | |
| X | g.80026850G= | CA2439980779 | TBX22 | c.780G= (p.Thr260=) c.*392G= (n.*392G=) n.659G= c.420G= (p.Thr140=) c.783G= (p.Thr261=) | |
| X | g.80026850G>T | CA517403098 | TBX22 | c.780G>T (p.Thr260=) c.*392G>T (n.*392G>T) n.659G>T c.420G>T (p.Thr140=) c.783G>T (p.Thr261=) | |
| X | g.80026851G>A | CA413740932 | TBX22 | c.781G>A (p.Ala261Thr) c.*393G>A (n.*393G>A) n.660G>A c.421G>A (p.Ala141Thr) c.784G>A (p.Ala262Thr) | |
| X | g.80026851G>C | CA413740933 | TBX22 | c.781G>C (p.Ala261Pro) c.*393G>C (n.*393G>C) n.660G>C c.421G>C (p.Ala141Pro) c.784G>C (p.Ala262Pro) | |
| X | g.80026851G>T | CA413740934 | TBX22 | c.781G>T (p.Ala261Ser) c.*393G>T (n.*393G>T) n.660G>T c.421G>T (p.Ala141Ser) c.784G>T (p.Ala262Ser) | gnomAD v3 gnomAD v4 |
| X | g.80026852C>A | CA413740935 | TBX22 | c.782C>A (p.Ala261Asp) c.*394C>A (n.*394C>A) n.661C>A c.422C>A (p.Ala141Asp) c.785C>A (p.Ala262Asp) | |
| X | g.80026852C>G | CA413740936 | TBX22 | c.782C>G (p.Ala261Gly) c.*394C>G (n.*394C>G) n.661C>G c.422C>G (p.Ala141Gly) c.785C>G (p.Ala262Gly) | |
| X | g.80026852C>T | CA413740937 | TBX22 | c.782C>T (p.Ala261Val) c.*394C>T (n.*394C>T) n.661C>T c.422C>T (p.Ala141Val) c.785C>T (p.Ala262Val) | gnomAD v4 |
| X | g.80026853T>A | CA517403101 | TBX22 | c.783T>A (p.Ala261=) c.*395T>A (n.*395T>A) n.662T>A c.423T>A (p.Ala141=) c.786T>A (p.Ala262=) | |
| X | g.80026853T>C | CA517403100 | TBX22 | c.783T>C (p.Ala261=) c.*395T>C (n.*395T>C) n.662T>C c.423T>C (p.Ala141=) c.786T>C (p.Ala262=) | |
| X | g.80026853T>G | CA517403099 | TBX22 | c.783T>G (p.Ala261=) c.*395T>G (n.*395T>G) n.662T>G c.423T>G (p.Ala141=) c.786T>G (p.Ala262=) | |
| X | g.80026854T>A | CA413740938 | TBX22 | c.784T>A (p.Tyr262Asn) c.*396T>A (n.*396T>A) n.663T>A c.424T>A (p.Tyr142Asn) c.787T>A (p.Tyr263Asn) | |
| X | g.80026854T>C | CA413740939 | TBX22 | c.784T>C (p.Tyr262His) c.*396T>C (n.*396T>C) n.663T>C c.424T>C (p.Tyr142His) c.787T>C (p.Tyr263His) | |
| X | g.80026854T>G | CA413740940 | TBX22 | c.784T>G (p.Tyr262Asp) c.*396T>G (n.*396T>G) n.663T>G c.424T>G (p.Tyr142Asp) c.787T>G (p.Tyr263Asp) | |
| X | g.80026855A>C | CA413740941 | TBX22 | c.785A>C (p.Tyr262Ser) c.*397A>C (n.*397A>C) n.664A>C c.425A>C (p.Tyr142Ser) c.788A>C (p.Tyr263Ser) | |
| X | g.80026855A>G | CA413740943 | TBX22 | c.785A>G (p.Tyr262Cys) c.*397A>G (n.*397A>G) n.664A>G c.425A>G (p.Tyr142Cys) c.788A>G (p.Tyr263Cys) | |
| X | g.80026855A>T | CA413740942 | TBX22 | c.785A>T (p.Tyr262Phe) c.*397A>T (n.*397A>T) n.664A>T c.425A>T (p.Tyr142Phe) c.788A>T (p.Tyr263Phe) | |
| X | g.80026856C>A | CA413740944 | TBX22 | c.786C>A (p.Tyr262Ter) c.*398C>A (n.*398C>A) n.665C>A c.426C>A (p.Tyr142Ter) c.789C>A (p.Tyr263Ter) | |
| X | g.80026856C>G | CA413740945 | TBX22 | c.786C>G (p.Tyr262Ter) c.*398C>G (n.*398C>G) n.665C>G c.426C>G (p.Tyr142Ter) c.789C>G (p.Tyr263Ter) | |
| X | g.80026856C>T | CA517403102 | TBX22 | c.786C>T (p.Tyr262=) c.*398C>T (n.*398C>T) n.665C>T c.426C>T (p.Tyr142=) c.789C>T (p.Tyr263=) | |
| X | g.80026857C>A | CA413740946 | TBX22 | c.787C>A (p.Gln263Lys) c.*399C>A (n.*399C>A) n.666C>A c.427C>A (p.Gln143Lys) c.790C>A (p.Gln264Lys) | ClinVar dbSNP |
| X | g.80026857C= | CA2439980780 | TBX22 | c.787C= (p.Gln263=) c.*399C= (n.*399C=) n.666C= c.427C= (p.Gln143=) c.790C= (p.Gln264=) | |
| X | g.80026857C>G | CA413740947 | TBX22 | c.787C>G (p.Gln263Glu) c.*399C>G (n.*399C>G) n.666C>G c.427C>G (p.Gln143Glu) c.790C>G (p.Gln264Glu) | |
| X | g.80026857C>T | CA413740948 | TBX22 | c.787C>T (p.Gln263Ter) c.*399C>T (n.*399C>T) n.666C>T c.427C>T (p.Gln143Ter) c.790C>T (p.Gln264Ter) | |
| X | g.80026858A>C | CA413740949 | TBX22 | c.788A>C (p.Gln263Pro) c.*400A>C (n.*400A>C) n.667A>C c.428A>C (p.Gln143Pro) c.791A>C (p.Gln264Pro) | gnomAD v4 |
| X | g.80026858A>G | CA413740950 | TBX22 | c.788A>G (p.Gln263Arg) c.*400A>G (n.*400A>G) n.667A>G c.428A>G (p.Gln143Arg) c.791A>G (p.Gln264Arg) | |
| X | g.80026858A>T | CA413740951 | TBX22 | c.788A>T (p.Gln263Leu) c.*400A>T (n.*400A>T) n.667A>T c.428A>T (p.Gln143Leu) c.791A>T (p.Gln264Leu) | |
| X | g.80026859A>C | CA413740952 | TBX22 | c.789A>C (p.Gln263His) c.*401A>C (n.*401A>C) n.668A>C c.429A>C (p.Gln143His) c.792A>C (p.Gln264His) | |
| X | g.80026859A>G | CA517403103 | TBX22 | c.789A>G (p.Gln263=) c.*401A>G (n.*401A>G) n.668A>G c.429A>G (p.Gln143=) c.792A>G (p.Gln264=) | |
| X | g.80026859A>T | CA413740953 | TBX22 | c.789A>T (p.Gln263His) c.*401A>T (n.*401A>T) n.668A>T c.429A>T (p.Gln143His) c.792A>T (p.Gln264His) | |
| X | g.80026860A= | CA2439980781 | TBX22 | c.790A= (p.Asn264=) c.*402A= (n.*402A=) n.669A= c.430A= (p.Asn144=) c.793A= (p.Asn265=) | |
| X | g.80026860A>C | CA413740954 | TBX22 | c.790A>C (p.Asn264His) c.*402A>C (n.*402A>C) n.669A>C c.430A>C (p.Asn144His) c.793A>C (p.Asn265His) | |
| X | g.80026860A>G | CA413740955 | TBX22 | c.790A>G (p.Asn264Asp) c.*402A>G (n.*402A>G) n.669A>G c.430A>G (p.Asn144Asp) c.793A>G (p.Asn265Asp) | |
| X | g.80026860A>T | CA121428 | TBX22 | c.790A>T (p.Asn264Tyr) c.*402A>T (n.*402A>T) n.669A>T c.430A>T (p.Asn144Tyr) c.793A>T (p.Asn265Tyr) | ClinVar dbSNP gnomAD v4 |
| X | g.80026861A>C | CA413740956 | TBX22 | c.791A>C (p.Asn264Thr) c.*403A>C (n.*403A>C) n.670A>C c.431A>C (p.Asn144Thr) c.794A>C (p.Asn265Thr) | |
| X | g.80026861A>G | CA413740957 | TBX22 | c.791A>G (p.Asn264Ser) c.*403A>G (n.*403A>G) n.670A>G c.431A>G (p.Asn144Ser) c.794A>G (p.Asn265Ser) | |
| X | g.80026861A>T | CA413740958 | TBX22 | c.791A>T (p.Asn264Ile) c.*403A>T (n.*403A>T) n.670A>T c.431A>T (p.Asn144Ile) c.794A>T (p.Asn265Ile) | |
| X | g.80026862C>A | CA413740959 | TBX22 | c.792C>A (p.Asn264Lys) c.*404C>A (n.*404C>A) n.671C>A c.432C>A (p.Asn144Lys) c.795C>A (p.Asn265Lys) | |
| X | g.80026862C>G | CA413740960 | TBX22 | c.792C>G (p.Asn264Lys) c.*404C>G (n.*404C>G) n.671C>G c.432C>G (p.Asn144Lys) c.795C>G (p.Asn265Lys) | |
| X | g.80026862C>T | CA517403104 | TBX22 | c.792C>T (p.Asn264=) c.*404C>T (n.*404C>T) n.671C>T c.432C>T (p.Asn144=) c.795C>T (p.Asn265=) | |
| X | g.80026863C>A | CA413740961 | TBX22 | c.793C>A (p.Gln265Lys) c.*405C>A (n.*405C>A) n.672C>A c.433C>A (p.Gln145Lys) c.796C>A (p.Gln266Lys) | |
| X | g.80026863C>G | CA413740962 | TBX22 | c.793C>G (p.Gln265Glu) c.*405C>G (n.*405C>G) n.672C>G c.433C>G (p.Gln145Glu) c.796C>G (p.Gln266Glu) | |
| X | g.80026863C>T | CA413740963 | TBX22 | c.793C>T (p.Gln265Ter) c.*405C>T (n.*405C>T) n.672C>T c.433C>T (p.Gln145Ter) c.796C>T (p.Gln266Ter) | |
| X | g.80026864A= | CA2439980782 | TBX22 | c.794A= (p.Gln265=) c.*406A= (n.*406A=) n.673A= c.434A= (p.Gln145=) c.797A= (p.Gln266=) |