Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.80026817C>A | CA413740860 | TBX22 | c.747C>A (p.Phe249Leu) c.*359C>A (n.*359C>A) n.626C>A c.387C>A (p.Phe129Leu) c.750C>A (p.Phe250Leu) | gnomAD v4 |
X | g.80026817C>G | CA413740861 | TBX22 | c.747C>G (p.Phe249Leu) c.*359C>G (n.*359C>G) n.626C>G c.387C>G (p.Phe129Leu) c.750C>G (p.Phe250Leu) | |
X | g.80026817C>T | CA517403077 | TBX22 | c.747C>T (p.Phe249=) c.*359C>T (n.*359C>T) n.626C>T c.387C>T (p.Phe129=) c.750C>T (p.Phe250=) | gnomAD v4 |
X | g.80026817_80026818delinsCT | CA2439980770 | TBX22 | c.747_748delinsCT (p.Phe249=) c.*359_*360delinsCT (n.*359_*360delinsCT) n.626_627delinsCT c.387_388delinsCT (p.Phe129=) c.750_751delinsCT (p.Phe250=) | |
X | g.80026818del | CA2439980771 | TBX22 | c.748del (p.Ser250ProfsTer10) c.*360del (n.*360del) n.627del c.388del (p.Ser130ProfsTer10) c.751del (p.Ser251ProfsTer10) | dbSNP |
X | g.80026818T>A | CA413740862 | TBX22 | c.748T>A (p.Ser250Thr) c.*360T>A (n.*360T>A) n.627T>A c.388T>A (p.Ser130Thr) c.751T>A (p.Ser251Thr) | |
X | g.80026818T>C | CA413740863 | TBX22 | c.748T>C (p.Ser250Pro) c.*360T>C (n.*360T>C) n.627T>C c.388T>C (p.Ser130Pro) c.751T>C (p.Ser251Pro) | gnomAD v4 |
X | g.80026818T>G | CA413740864 | TBX22 | c.748T>G (p.Ser250Ala) c.*360T>G (n.*360T>G) n.627T>G c.388T>G (p.Ser130Ala) c.751T>G (p.Ser251Ala) | |
X | g.80026819C>A | CA413740865 | TBX22 | c.749C>A (p.Ser250Tyr) c.*361C>A (n.*361C>A) n.628C>A c.389C>A (p.Ser130Tyr) c.752C>A (p.Ser251Tyr) | |
X | g.80026819C>G | CA413740866 | TBX22 | c.749C>G (p.Ser250Cys) c.*361C>G (n.*361C>G) n.628C>G c.389C>G (p.Ser130Cys) c.752C>G (p.Ser251Cys) | |
X | g.80026819C>T | CA413740867 | TBX22 | c.749C>T (p.Ser250Phe) c.*361C>T (n.*361C>T) n.628C>T c.389C>T (p.Ser130Phe) c.752C>T (p.Ser251Phe) | |
X | g.80026820C>A | CA517403078 | TBX22 | c.750C>A (p.Ser250=) c.*362C>A (n.*362C>A) n.629C>A c.390C>A (p.Ser130=) c.753C>A (p.Ser251=) | |
X | g.80026820C>G | CA517403079 | TBX22 | c.750C>G (p.Ser250=) c.*362C>G (n.*362C>G) n.629C>G c.390C>G (p.Ser130=) c.753C>G (p.Ser251=) | gnomAD v4 |
X | g.80026820C>T | CA517403080 | TBX22 | c.750C>T (p.Ser250=) c.*362C>T (n.*362C>T) n.629C>T c.390C>T (p.Ser130=) c.753C>T (p.Ser251=) | gnomAD v4 |
X | g.80026820_80026822del | CA2524170673 | TBX22 | c.750_752del (p.Phe251del) c.*362_*364del (n.*362_*364del) n.629_631del c.390_392del (p.Phe131del) c.753_755del (p.Phe252del) | |
X | g.80026821T>A | CA413740870 | TBX22 | c.751T>A (p.Phe251Ile) c.*363T>A (n.*363T>A) n.630T>A c.391T>A (p.Phe131Ile) c.754T>A (p.Phe252Ile) | |
X | g.80026821T>C | CA413740869 | TBX22 | c.751T>C (p.Phe251Leu) c.*363T>C (n.*363T>C) n.630T>C c.391T>C (p.Phe131Leu) c.754T>C (p.Phe252Leu) | |
X | g.80026821T>G | CA413740868 | TBX22 | c.751T>G (p.Phe251Val) c.*363T>G (n.*363T>G) n.630T>G c.391T>G (p.Phe131Val) c.754T>G (p.Phe252Val) | |
X | g.80026822T>A | CA413740871 | TBX22 | c.752T>A (p.Phe251Tyr) c.*364T>A (n.*364T>A) n.631T>A c.392T>A (p.Phe131Tyr) c.755T>A (p.Phe252Tyr) | |
X | g.80026822T>C | CA413740873 | TBX22 | c.752T>C (p.Phe251Ser) c.*364T>C (n.*364T>C) n.631T>C c.392T>C (p.Phe131Ser) c.755T>C (p.Phe252Ser) | |
X | g.80026822T>G | CA413740872 | TBX22 | c.752T>G (p.Phe251Cys) c.*364T>G (n.*364T>G) n.631T>G c.392T>G (p.Phe131Cys) c.755T>G (p.Phe252Cys) | |
X | g.80026823T>A | CA413740874 | TBX22 | c.753T>A (p.Phe251Leu) c.*365T>A (n.*365T>A) n.632T>A c.393T>A (p.Phe131Leu) c.756T>A (p.Phe252Leu) | |
X | g.80026823T>C | CA517403081 | TBX22 | c.753T>C (p.Phe251=) c.*365T>C (n.*365T>C) n.632T>C c.393T>C (p.Phe131=) c.756T>C (p.Phe252=) | |
X | g.80026823T>G | CA413740875 | TBX22 | c.753T>G (p.Phe251Leu) c.*365T>G (n.*365T>G) n.632T>G c.393T>G (p.Phe131Leu) c.756T>G (p.Phe252Leu) | |
X | g.80026824A>C | CA413740876 | TBX22 | c.754A>C (p.Lys252Gln) c.*366A>C (n.*366A>C) n.633A>C c.394A>C (p.Lys132Gln) c.757A>C (p.Lys253Gln) | |
X | g.80026824A>G | CA413740877 | TBX22 | c.754A>G (p.Lys252Glu) c.*366A>G (n.*366A>G) n.633A>G c.394A>G (p.Lys132Glu) c.757A>G (p.Lys253Glu) | |
X | g.80026824A>T | CA413740878 | TBX22 | c.754A>T (p.Lys252Ter) c.*366A>T (n.*366A>T) n.633A>T c.394A>T (p.Lys132Ter) c.757A>T (p.Lys253Ter) | |
X | g.80026825A>C | CA413740879 | TBX22 | c.755A>C (p.Lys252Thr) c.*367A>C (n.*367A>C) n.634A>C c.395A>C (p.Lys132Thr) c.758A>C (p.Lys253Thr) | |
X | g.80026825A>G | CA413740880 | TBX22 | c.755A>G (p.Lys252Arg) c.*367A>G (n.*367A>G) n.634A>G c.395A>G (p.Lys132Arg) c.758A>G (p.Lys253Arg) | |
X | g.80026825A>T | CA413740881 | TBX22 | c.755A>T (p.Lys252Ile) c.*367A>T (n.*367A>T) n.634A>T c.395A>T (p.Lys132Ile) c.758A>T (p.Lys253Ile) | |
X | g.80026826A>C | CA413740882 | TBX22 | c.756A>C (p.Lys252Asn) c.*368A>C (n.*368A>C) n.635A>C c.396A>C (p.Lys132Asn) c.759A>C (p.Lys253Asn) | |
X | g.80026826A>G | CA517403082 | TBX22 | c.756A>G (p.Lys252=) c.*368A>G (n.*368A>G) n.635A>G c.396A>G (p.Lys132=) c.759A>G (p.Lys253=) | |
X | g.80026826A>T | CA413740883 | TBX22 | c.756A>T (p.Lys252Asn) c.*368A>T (n.*368A>T) n.635A>T c.396A>T (p.Lys132Asn) c.759A>T (p.Lys253Asn) | |
X | g.80026827G>A | CA331778193 | TBX22 | c.757G>A (p.Glu253Lys) c.*369G>A (n.*369G>A) n.636G>A c.397G>A (p.Glu133Lys) c.760G>A (p.Glu254Lys) | dbSNP |
X | g.80026827G>C | CA413740885 | TBX22 | c.757G>C (p.Glu253Gln) c.*369G>C (n.*369G>C) n.636G>C c.397G>C (p.Glu133Gln) c.760G>C (p.Glu254Gln) | |
X | g.80026827G= | CA2439980772 | TBX22 | c.757G= (p.Glu253=) c.*369G= (n.*369G=) n.636G= c.397G= (p.Glu133=) c.760G= (p.Glu254=) | |
X | g.80026827G>T | CA413740884 | TBX22 | c.757G>T (p.Glu253Ter) c.*369G>T (n.*369G>T) n.636G>T c.397G>T (p.Glu133Ter) c.760G>T (p.Glu254Ter) | |
X | g.80026828A>C | CA413740886 | TBX22 | c.758A>C (p.Glu253Ala) c.*370A>C (n.*370A>C) n.637A>C c.398A>C (p.Glu133Ala) c.761A>C (p.Glu254Ala) | |
X | g.80026828A>G | CA413740887 | TBX22 | c.758A>G (p.Glu253Gly) c.*370A>G (n.*370A>G) n.637A>G c.398A>G (p.Glu133Gly) c.761A>G (p.Glu254Gly) | |
X | g.80026828A>T | CA413740888 | TBX22 | c.758A>T (p.Glu253Val) c.*370A>T (n.*370A>T) n.637A>T c.398A>T (p.Glu133Val) c.761A>T (p.Glu254Val) | |
X | g.80026829A>C | CA413740889 | TBX22 | c.759A>C (p.Glu253Asp) c.*371A>C (n.*371A>C) n.638A>C c.399A>C (p.Glu133Asp) c.762A>C (p.Glu254Asp) | |
X | g.80026829A>G | CA517403083 | TBX22 | c.759A>G (p.Glu253=) c.*371A>G (n.*371A>G) n.638A>G c.399A>G (p.Glu133=) c.762A>G (p.Glu254=) | |
X | g.80026829A>T | CA413740890 | TBX22 | c.759A>T (p.Glu253Asp) c.*371A>T (n.*371A>T) n.638A>T c.399A>T (p.Glu133Asp) c.762A>T (p.Glu254Asp) | |
X | g.80026830A>C | CA413740891 | TBX22 | c.760A>C (p.Thr254Pro) c.*372A>C (n.*372A>C) n.639A>C c.400A>C (p.Thr134Pro) c.763A>C (p.Thr255Pro) | |
X | g.80026830A>G | CA413740892 | TBX22 | c.760A>G (p.Thr254Ala) c.*372A>G (n.*372A>G) n.639A>G c.400A>G (p.Thr134Ala) c.763A>G (p.Thr255Ala) | |
X | g.80026830A>T | CA413740893 | TBX22 | c.760A>T (p.Thr254Ser) c.*372A>T (n.*372A>T) n.639A>T c.400A>T (p.Thr134Ser) c.763A>T (p.Thr255Ser) | |
X | g.80026831C>A | CA413740894 | TBX22 | c.761C>A (p.Thr254Asn) c.*373C>A (n.*373C>A) n.640C>A c.401C>A (p.Thr134Asn) c.764C>A (p.Thr255Asn) | |
X | g.80026831C>G | CA413740895 | TBX22 | c.761C>G (p.Thr254Ser) c.*373C>G (n.*373C>G) n.640C>G c.401C>G (p.Thr134Ser) c.764C>G (p.Thr255Ser) | |
X | g.80026831C>T | CA413740896 | TBX22 | c.761C>T (p.Thr254Ile) c.*373C>T (n.*373C>T) n.640C>T c.401C>T (p.Thr134Ile) c.764C>T (p.Thr255Ile) | |
X | g.80026832del | CA2694191737 | TBX22 | c.762del (p.Glu255SerfsTer5) c.*374del (n.*374del) n.641del c.402del (p.Glu135SerfsTer5) c.765del (p.Glu256SerfsTer5) | gnomAD v4 |
X | g.80026832T>A | CA517403084 | TBX22 | c.762T>A (p.Thr254=) c.*374T>A (n.*374T>A) n.641T>A c.402T>A (p.Thr134=) c.765T>A (p.Thr255=) | |
X | g.80026832T>C | CA517403086 | TBX22 | c.762T>C (p.Thr254=) c.*374T>C (n.*374T>C) n.641T>C c.402T>C (p.Thr134=) c.765T>C (p.Thr255=) | |
X | g.80026832T>G | CA517403085 | TBX22 | c.762T>G (p.Thr254=) c.*374T>G (n.*374T>G) n.641T>G c.402T>G (p.Thr134=) c.765T>G (p.Thr255=) | |
X | g.80026833G>A | CA413740898 | TBX22 | c.763G>A (p.Glu255Lys) c.*375G>A (n.*375G>A) n.642G>A c.403G>A (p.Glu135Lys) c.766G>A (p.Glu256Lys) | COSMIC |
X | g.80026833G>C | CA413740899 | TBX22 | c.763G>C (p.Glu255Gln) c.*375G>C (n.*375G>C) n.642G>C c.403G>C (p.Glu135Gln) c.766G>C (p.Glu256Gln) | |
X | g.80026833G>T | CA413740897 | TBX22 | c.763G>T (p.Glu255Ter) c.*375G>T (n.*375G>T) n.642G>T c.403G>T (p.Glu135Ter) c.766G>T (p.Glu256Ter) | |
X | g.80026834A= | CA2439980773 | TBX22 | c.764A= (p.Glu255=) c.*376A= (n.*376A=) n.643A= c.404A= (p.Glu135=) c.767A= (p.Glu256=) | |
X | g.80026834A>C | CA413740900 | TBX22 | c.764A>C (p.Glu255Ala) c.*376A>C (n.*376A>C) n.643A>C c.404A>C (p.Glu135Ala) c.767A>C (p.Glu256Ala) | gnomAD v4 |
X | g.80026834A>G | CA10461290 | TBX22 | c.764A>G (p.Glu255Gly) c.*376A>G (n.*376A>G) n.643A>G c.404A>G (p.Glu135Gly) c.767A>G (p.Glu256Gly) | dbSNP ExAC |
X | g.80026834A>T | CA413740901 | TBX22 | c.764A>T (p.Glu255Val) c.*376A>T (n.*376A>T) n.643A>T c.404A>T (p.Glu135Val) c.767A>T (p.Glu256Val) | |
X | g.80026835G>A | CA517403087 | TBX22 | c.765G>A (p.Glu255=) c.*377G>A (n.*377G>A) n.644G>A c.405G>A (p.Glu135=) c.768G>A (p.Glu256=) | |
X | g.80026835G>C | CA413740902 | TBX22 | c.765G>C (p.Glu255Asp) c.*377G>C (n.*377G>C) n.644G>C c.405G>C (p.Glu135Asp) c.768G>C (p.Glu256Asp) | |
X | g.80026835G>T | CA413740903 | TBX22 | c.765G>T (p.Glu255Asp) c.*377G>T (n.*377G>T) n.644G>T c.405G>T (p.Glu135Asp) c.768G>T (p.Glu256Asp) | |
X | g.80026836T>A | CA413740904 | TBX22 | c.766T>A (p.Phe256Ile) c.*378T>A (n.*378T>A) n.645T>A c.406T>A (p.Phe136Ile) c.769T>A (p.Phe257Ile) | ClinVar dbSNP |
X | g.80026836T>C | CA413740905 | TBX22 | c.766T>C (p.Phe256Leu) c.*378T>C (n.*378T>C) n.645T>C c.406T>C (p.Phe136Leu) c.769T>C (p.Phe257Leu) | |
X | g.80026836T>G | CA413740906 | TBX22 | c.766T>G (p.Phe256Val) c.*378T>G (n.*378T>G) n.645T>G c.406T>G (p.Phe136Val) c.769T>G (p.Phe257Val) | |
X | g.80026837T>A | CA413740907 | TBX22 | c.767T>A (p.Phe256Tyr) c.*379T>A (n.*379T>A) n.646T>A c.407T>A (p.Phe136Tyr) c.770T>A (p.Phe257Tyr) | |
X | g.80026837T>C | CA413740908 | TBX22 | c.767T>C (p.Phe256Ser) c.*379T>C (n.*379T>C) n.646T>C c.407T>C (p.Phe136Ser) c.770T>C (p.Phe257Ser) | |
X | g.80026837T>G | CA413740909 | TBX22 | c.767T>G (p.Phe256Cys) c.*379T>G (n.*379T>G) n.646T>G c.407T>G (p.Phe136Cys) c.770T>G (p.Phe257Cys) | |
X | g.80026838C>A | CA413740910 | TBX22 | c.768C>A (p.Phe256Leu) c.*380C>A (n.*380C>A) n.647C>A c.408C>A (p.Phe136Leu) c.771C>A (p.Phe257Leu) | |
X | g.80026838C= | CA2439980774 | TBX22 | c.768C= (p.Phe256=) c.*380C= (n.*380C=) n.647C= c.408C= (p.Phe136=) c.771C= (p.Phe257=) | |
X | g.80026838C>G | CA413740911 | TBX22 | c.768C>G (p.Phe256Leu) c.*380C>G (n.*380C>G) n.647C>G c.408C>G (p.Phe136Leu) c.771C>G (p.Phe257Leu) | |
X | g.80026838C>T | CA517403088 | TBX22 | c.768C>T (p.Phe256=) c.*380C>T (n.*380C>T) n.647C>T c.408C>T (p.Phe136=) c.771C>T (p.Phe257=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.80026839A>C | CA413740914 | TBX22 | c.769A>C (p.Thr257Pro) c.*381A>C (n.*381A>C) n.648A>C c.409A>C (p.Thr137Pro) c.772A>C (p.Thr258Pro) | |
X | g.80026839A>G | CA413740913 | TBX22 | c.769A>G (p.Thr257Ala) c.*381A>G (n.*381A>G) n.648A>G c.409A>G (p.Thr137Ala) c.772A>G (p.Thr258Ala) | gnomAD v4 |
X | g.80026839A>T | CA413740912 | TBX22 | c.769A>T (p.Thr257Ser) c.*381A>T (n.*381A>T) n.648A>T c.409A>T (p.Thr137Ser) c.772A>T (p.Thr258Ser) | |
X | g.80026840C>A | CA413740915 | TBX22 | c.770C>A (p.Thr257Asn) c.*382C>A (n.*382C>A) n.649C>A c.410C>A (p.Thr137Asn) c.773C>A (p.Thr258Asn) | |
X | g.80026840C= | CA2439980775 | TBX22 | c.770C= (p.Thr257=) c.*382C= (n.*382C=) n.649C= c.410C= (p.Thr137=) c.773C= (p.Thr258=) | |
X | g.80026840C>G | CA10461292 | TBX22 | c.770C>G (p.Thr257Ser) c.*382C>G (n.*382C>G) n.649C>G c.410C>G (p.Thr137Ser) c.773C>G (p.Thr258Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.80026840C>T | CA10461291 | TBX22 | c.770C>T (p.Thr257Ile) c.*382C>T (n.*382C>T) n.649C>T c.410C>T (p.Thr137Ile) c.773C>T (p.Thr258Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.80026840_80026841insACCCAA | CA2822025073 | TBX22 | c.770_771insACCCAA (p.Thr257_Thr258insProAsn) c.*382_*383insACCCAA (n.*382_*383insACCCAA) n.649_650insACCCAA c.410_411insACCCAA (p.Thr137_Thr138insProAsn) c.773_774insACCCAA (p.Thr258_Thr259insProAsn) | |
X | g.80026841C>A | CA517403089 | TBX22 | c.771C>A (p.Thr257=) c.*383C>A (n.*383C>A) n.650C>A c.411C>A (p.Thr137=) c.774C>A (p.Thr258=) | |
X | g.80026841C>G | CA517403090 | TBX22 | c.771C>G (p.Thr257=) c.*383C>G (n.*383C>G) n.650C>G c.411C>G (p.Thr137=) c.774C>G (p.Thr258=) | |
X | g.80026841C>T | CA517403091 | TBX22 | c.771C>T (p.Thr257=) c.*383C>T (n.*383C>T) n.650C>T c.411C>T (p.Thr137=) c.774C>T (p.Thr258=) | |
X | g.80026841_80026842insCAAC | CA2822025074 | TBX22 | c.771_772insCAAC (p.Thr258GlnfsTer23) c.*383_*384insCAAC (n.*383_*384insCAAC) n.650_651insCAAC c.411_412insCAAC (p.Thr138GlnfsTer23) c.774_775insCAAC (p.Thr259GlnfsTer23) | |
X | g.80026842A>C | CA413740916 | TBX22 | c.772A>C (p.Thr258Pro) c.*384A>C (n.*384A>C) n.651A>C c.412A>C (p.Thr138Pro) c.775A>C (p.Thr259Pro) | |
X | g.80026842A>G | CA413740917 | TBX22 | c.772A>G (p.Thr258Ala) c.*384A>G (n.*384A>G) n.651A>G c.412A>G (p.Thr138Ala) c.775A>G (p.Thr259Ala) | gnomAD v4 |
X | g.80026842A>T | CA413740918 | TBX22 | c.772A>T (p.Thr258Ser) c.*384A>T (n.*384A>T) n.651A>T c.412A>T (p.Thr138Ser) c.775A>T (p.Thr259Ser) | gnomAD v4 |
X | g.80026843C>A | CA413740919 | TBX22 | c.773C>A (p.Thr258Lys) c.*385C>A (n.*385C>A) n.652C>A c.413C>A (p.Thr138Lys) c.776C>A (p.Thr259Lys) | |
X | g.80026843C= | CA2439980776 | TBX22 | c.773C= (p.Thr258=) c.*385C= (n.*385C=) n.652C= c.413C= (p.Thr138=) c.776C= (p.Thr259=) | |
X | g.80026843C>G | CA413740920 | TBX22 | c.773C>G (p.Thr258Arg) c.*385C>G (n.*385C>G) n.652C>G c.413C>G (p.Thr138Arg) c.776C>G (p.Thr259Arg) | |
X | g.80026843C>T | CA10461293 | TBX22 | c.773C>T (p.Thr258Ile) c.*385C>T (n.*385C>T) n.652C>T c.413C>T (p.Thr138Ile) c.776C>T (p.Thr259Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.80026844A= | CA2439980777 | TBX22 | c.774A= (p.Thr258=) c.*386A= (n.*386A=) n.653A= c.414A= (p.Thr138=) c.777A= (p.Thr259=) | |
X | g.80026844A>C | CA10461294 | TBX22 | c.774A>C (p.Thr258=) c.*386A>C (n.*386A>C) n.653A>C c.414A>C (p.Thr138=) c.777A>C (p.Thr259=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.80026844A>G | CA517403093 | TBX22 | c.774A>G (p.Thr258=) c.*386A>G (n.*386A>G) n.653A>G c.414A>G (p.Thr138=) c.777A>G (p.Thr259=) | |
X | g.80026844A>T | CA517403092 | TBX22 | c.774A>T (p.Thr258=) c.*386A>T (n.*386A>T) n.653A>T c.414A>T (p.Thr138=) c.777A>T (p.Thr259=) | gnomAD v4 |
X | g.80026845G>A | CA413740921 | TBX22 | c.775G>A (p.Val259Ile) c.*387G>A (n.*387G>A) n.654G>A c.415G>A (p.Val139Ile) c.778G>A (p.Val260Ile) | |
X | g.80026845G>C | CA413740922 | TBX22 | c.775G>C (p.Val259Leu) c.*387G>C (n.*387G>C) n.654G>C c.415G>C (p.Val139Leu) c.778G>C (p.Val260Leu) | COSMIC |
X | g.80026845G>T | CA413740923 | TBX22 | c.775G>T (p.Val259Leu) c.*387G>T (n.*387G>T) n.654G>T c.415G>T (p.Val139Leu) c.778G>T (p.Val260Leu) | |
X | g.80026846T>A | CA413740925 | TBX22 | c.776T>A (p.Val259Glu) c.*388T>A (n.*388T>A) n.655T>A c.416T>A (p.Val139Glu) c.779T>A (p.Val260Glu) | |
X | g.80026846T>C | CA413740926 | TBX22 | c.776T>C (p.Val259Ala) c.*388T>C (n.*388T>C) n.655T>C c.416T>C (p.Val139Ala) c.779T>C (p.Val260Ala) | |
X | g.80026846T>G | CA413740924 | TBX22 | c.776T>G (p.Val259Gly) c.*388T>G (n.*388T>G) n.655T>G c.416T>G (p.Val139Gly) c.779T>G (p.Val260Gly) | |
X | g.80026847A>C | CA517403094 | TBX22 | c.777A>C (p.Val259=) c.*389A>C (n.*389A>C) n.656A>C c.417A>C (p.Val139=) c.780A>C (p.Val260=) | |
X | g.80026847A>G | CA517403095 | TBX22 | c.777A>G (p.Val259=) c.*389A>G (n.*389A>G) n.656A>G c.417A>G (p.Val139=) c.780A>G (p.Val260=) | |
X | g.80026847A>T | CA517403096 | TBX22 | c.777A>T (p.Val259=) c.*389A>T (n.*389A>T) n.656A>T c.417A>T (p.Val139=) c.780A>T (p.Val260=) | |
X | g.80026848A>C | CA413740928 | TBX22 | c.778A>C (p.Thr260Pro) c.*390A>C (n.*390A>C) n.657A>C c.418A>C (p.Thr140Pro) c.781A>C (p.Thr261Pro) | |
X | g.80026848A>G | CA413740927 | TBX22 | c.778A>G (p.Thr260Ala) c.*390A>G (n.*390A>G) n.657A>G c.418A>G (p.Thr140Ala) c.781A>G (p.Thr261Ala) | |
X | g.80026848A>T | CA413740929 | TBX22 | c.778A>T (p.Thr260Ser) c.*390A>T (n.*390A>T) n.657A>T c.418A>T (p.Thr140Ser) c.781A>T (p.Thr261Ser) | |
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.80026862_80026863insACC | CA2822025076 | TBX22 | c.792_793insACC (p.Asn264_Gln265insThr) c.*404_*405insACC (n.*404_*405insACC) n.671_672insACC c.432_433insACC (p.Asn144_Gln145insThr) c.795_796insACC (p.Asn265_Gln266insThr) | |
X | g.80026863dup | CA2822025075 | TBX22 | c.793dup (p.Gln265ProfsTer15) c.*405dup (n.*405dup) n.672dup c.433dup (p.Gln145ProfsTer15) c.796dup (p.Gln266ProfsTer15) | |
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=) | |
X | g.80026864A>C | CA413740964 | TBX22 | c.794A>C (p.Gln265Pro) c.*406A>C (n.*406A>C) n.673A>C c.434A>C (p.Gln145Pro) c.797A>C (p.Gln266Pro) | |
X | g.80026864A>G | CA413740965 | TBX22 | c.794A>G (p.Gln265Arg) c.*406A>G (n.*406A>G) n.673A>G c.434A>G (p.Gln145Arg) c.797A>G (p.Gln266Arg) | dbSNP gnomAD v3 gnomAD v4 |
X | g.80026864A>T | CA413740966 | TBX22 | c.794A>T (p.Gln265Leu) c.*406A>T (n.*406A>T) n.673A>T c.434A>T (p.Gln145Leu) c.797A>T (p.Gln266Leu) | |
X | g.80026864_80026865insCAACCAAACACACCCAAC | CA2822025079 | TBX22 | c.794_795insCAACCAAACACACCCAAC (p.Gln265delinsHisAsnGlnThrHisProThr) c.*406_*407insCAACCAAACACACCCAAC (n.*406_*407insCAACCAAACACACCCAAC) n.673_674insCAACCAAACACACCCAAC c.434_435insCAACCAAACACACCCAAC (p.Gln145delinsHisAsnGlnThrHisProThr) c.797_798insCAACCAAACACACCCAAC (p.Gln266delinsHisAsnGlnThrHisProThr) | |
X | g.80026865A>C | CA413740967 | TBX22 | c.795A>C (p.Gln265His) c.*407A>C (n.*407A>C) n.674A>C c.435A>C (p.Gln145His) c.798A>C (p.Gln266His) | |
X | g.80026865A>G | CA517403105 | TBX22 | c.795A>G (p.Gln265=) c.*407A>G (n.*407A>G) n.674A>G c.435A>G (p.Gln145=) c.798A>G (p.Gln266=) | |
X | g.80026865A>T | CA413740968 | TBX22 | c.795A>T (p.Gln265His) c.*407A>T (n.*407A>T) n.674A>T c.435A>T (p.Gln145His) c.798A>T (p.Gln266His) | |
X | g.80026866_80026867insCAAACACACCCAACAC | CA2822025078 | TBX22 | c.796_797insCAAACACACCCAACAC (p.Gln266ProfsTer19) c.*408_*409insCAAACACACCCAACAC (n.*408_*409insCAAACACACCCAACAC) n.675_676insCAAACACACCCAACAC c.436_437insCAAACACACCCAACAC (p.Gln146ProfsTer19) c.799_800insCAAACACACCCAACAC (p.Gln267ProfsTer19) | |
X | g.80026866_80026867dup | CA2822025077 | TBX22 | c.796_797dup (p.Gln266HisfsTer6) c.*408_*409dup (n.*408_*409dup) n.675_676dup c.436_437dup (p.Gln146HisfsTer6) c.799_800dup (p.Gln267HisfsTer6) | |
X | g.80026866C>A | CA413740971 | TBX22 | c.796C>A (p.Gln266Lys) c.*408C>A (n.*408C>A) n.675C>A c.436C>A (p.Gln146Lys) c.799C>A (p.Gln267Lys) | |
X | g.80026866C= | CA2439980783 | TBX22 | c.796C= (p.Gln266=) c.*408C= (n.*408C=) n.675C= c.436C= (p.Gln146=) c.799C= (p.Gln267=) | |
X | g.80026866C>G | CA413740970 | TBX22 | c.796C>G (p.Gln266Glu) c.*408C>G (n.*408C>G) n.675C>G c.436C>G (p.Gln146Glu) c.799C>G (p.Gln267Glu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.80026866C>T | CA413740969 | TBX22 | c.796C>T (p.Gln266Ter) c.*408C>T (n.*408C>T) n.675C>T c.436C>T (p.Gln146Ter) c.799C>T (p.Gln267Ter) | |
X | g.80026867A>C | CA413740972 | TBX22 | c.797A>C (p.Gln266Pro) c.*409A>C (n.*409A>C) n.676A>C c.437A>C (p.Gln146Pro) c.800A>C (p.Gln267Pro) | |
X | g.80026867A>G | CA413740973 | TBX22 | c.797A>G (p.Gln266Arg) c.*409A>G (n.*409A>G) n.676A>G c.437A>G (p.Gln146Arg) c.800A>G (p.Gln267Arg) | |
X | g.80026867A>T | CA413740974 | TBX22 | c.797A>T (p.Gln266Leu) c.*409A>T (n.*409A>T) n.676A>T c.437A>T (p.Gln146Leu) c.800A>T (p.Gln267Leu) | |
X | g.80026868G>A | CA517403106 | TBX22 | c.798G>A (p.Gln266=) c.*410G>A (n.*410G>A) n.677G>A c.438G>A (p.Gln146=) c.801G>A (p.Gln267=) | |
X | g.80026868G>C | CA413740975 | TBX22 | c.798G>C (p.Gln266His) c.*410G>C (n.*410G>C) n.677G>C c.438G>C (p.Gln146His) c.801G>C (p.Gln267His) | |
X | g.80026868G>T | CA413740976 | TBX22 | c.798G>T (p.Gln266His) c.*410G>T (n.*410G>T) n.677G>T c.438G>T (p.Gln146His) c.801G>T (p.Gln267His) | |
X | g.80026869G>A | CA413740977 | TBX22 | c.798+1G>A (n.798+1G>A) c.*410+1G>A (n.*410+1G>A) n.677+1G>A c.438+1G>A (n.438+1G>A) c.801+1G>A (n.801+1G>A) | |
X | g.80026869G>C | CA413740978 | TBX22 | c.798+1G>C (n.798+1G>C) c.*410+1G>C (n.*410+1G>C) n.677+1G>C c.438+1G>C (n.438+1G>C) c.801+1G>C (n.801+1G>C) | |
X | g.80026869G>T | CA413740979 | TBX22 | c.798+1G>T (n.798+1G>T) c.*410+1G>T (n.*410+1G>T) n.677+1G>T c.438+1G>T (n.438+1G>T) c.801+1G>T (n.801+1G>T) | |
X | g.80026870T>A | CA413740980 | TBX22 | c.798+2T>A (n.798+2T>A) c.*410+2T>A (n.*410+2T>A) n.677+2T>A c.438+2T>A (n.438+2T>A) c.801+2T>A (n.801+2T>A) | |
X | g.80026870T>C | CA413740981 | TBX22 | c.798+2T>C (n.798+2T>C) c.*410+2T>C (n.*410+2T>C) n.677+2T>C c.438+2T>C (n.438+2T>C) c.801+2T>C (n.801+2T>C) | |
X | g.80026870T>G | CA413740982 | TBX22 | c.798+2T>G (n.798+2T>G) c.*410+2T>G (n.*410+2T>G) n.677+2T>G c.438+2T>G (n.438+2T>G) c.801+2T>G (n.801+2T>G) | |
X | g.80026873A>T | CA2579651958 | TBX22 | c.798+5A>T (n.798+5A>T) c.*410+5A>T (n.*410+5A>T) n.677+5A>T c.438+5A>T (n.438+5A>T) c.801+5A>T (n.801+5A>T) | |
X | g.80026874C= | CA2439980784 | TBX22 | c.798+6C= (n.798+6C=) c.*410+6C= (n.*410+6C=) n.677+6C= c.438+6C= (n.438+6C=) c.801+6C= (n.801+6C=) | |
X | g.80026874C>G | CA2694191743 | TBX22 | c.798+6C>G (n.798+6C>G) c.*410+6C>G (n.*410+6C>G) n.677+6C>G c.438+6C>G (n.438+6C>G) c.801+6C>G (n.801+6C>G) | gnomAD v4 |
X | g.80026874C>T | CA10461296 | TBX22 | c.798+6C>T (n.798+6C>T) c.*410+6C>T (n.*410+6C>T) n.677+6C>T c.438+6C>T (n.438+6C>T) c.801+6C>T (n.801+6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.80026878G>A | CA643006898 | TBX22 | c.798+10G>A (n.798+10G>A) c.*410+10G>A (n.*410+10G>A) n.677+10G>A c.438+10G>A (n.438+10G>A) c.801+10G>A (n.801+10G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.80026878G= | CA2439980785 | TBX22 | c.798+10G= (n.798+10G=) c.*410+10G= (n.*410+10G=) n.677+10G= c.438+10G= (n.438+10G=) c.801+10G= (n.801+10G=) | |
X | g.80026879T>C | CA10461297 | TBX22 | c.798+11T>C (n.798+11T>C) c.*410+11T>C (n.*410+11T>C) n.677+11T>C c.438+11T>C (n.438+11T>C) c.801+11T>C (n.801+11T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.80026879T= | CA2439980786 | TBX22 | c.798+11T= (n.798+11T=) c.*410+11T= (n.*410+11T=) n.677+11T= c.438+11T= (n.438+11T=) c.801+11T= (n.801+11T=) | |
X | g.80026882T>C | CA2579651959 | TBX22 | c.798+14T>C (n.798+14T>C) c.*410+14T>C (n.*410+14T>C) n.677+14T>C c.438+14T>C (n.438+14T>C) c.801+14T>C (n.801+14T>C) | gnomAD v4 |
X | g.80026883G>A | CA2579651960 | TBX22 | c.798+15G>A (n.798+15G>A) c.*410+15G>A (n.*410+15G>A) n.677+15G>A c.438+15G>A (n.438+15G>A) c.801+15G>A (n.801+15G>A) | |
X | g.80026888A>C | CA2579651961 | TBX22 | c.798+20A>C (n.798+20A>C) c.*410+20A>C (n.*410+20A>C) n.677+20A>C c.438+20A>C (n.438+20A>C) c.801+20A>C (n.801+20A>C) | gnomAD v4 |
X | g.80026888_80026889delinsAG | CA2439980787 | TBX22 | c.798+20_798+21delinsAG (n.798+20_798+21delinsAG) c.*410+20_*410+21delinsAG (n.*410+20_*410+21delinsAG) n.677+20_677+21delinsAG c.438+20_438+21delinsAG (n.438+20_438+21delinsAG) c.801+20_801+21delinsAG (n.801+20_801+21delinsAG) | |
X | g.80026889G>A | CA2694191744 | TBX22 | c.798+21G>A (n.798+21G>A) c.*410+21G>A (n.*410+21G>A) n.677+21G>A c.438+21G>A (n.438+21G>A) c.801+21G>A (n.801+21G>A) | gnomAD v4 |
X | g.80026890del | CA10461298 | TBX22 | c.798+22del (n.798+22del) c.*410+22del (n.*410+22del) n.677+22del c.438+22del (n.438+22del) c.801+22del (n.801+22del) | dbSNP ExAC |
X | g.80026891C= | CA2439980788 | TBX22 | c.798+23C= (n.798+23C=) c.*410+23C= (n.*410+23C=) n.677+23C= c.438+23C= (n.438+23C=) c.801+23C= (n.801+23C=) | |
X | g.80026891C>G | CA2694191745 | TBX22 | c.798+23C>G (n.798+23C>G) c.*410+23C>G (n.*410+23C>G) n.677+23C>G c.438+23C>G (n.438+23C>G) c.801+23C>G (n.801+23C>G) | gnomAD v4 |
X | g.80026891C>T | CA10461299 | TBX22 | c.798+23C>T (n.798+23C>T) c.*410+23C>T (n.*410+23C>T) n.677+23C>T c.438+23C>T (n.438+23C>T) c.801+23C>T (n.801+23C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.80026892G>A | CA10461300 | TBX22 | c.798+24G>A (n.798+24G>A) c.*410+24G>A (n.*410+24G>A) n.677+24G>A c.438+24G>A (n.438+24G>A) c.801+24G>A (n.801+24G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.80026892G= | CA2439980789 | TBX22 | c.798+24G= (n.798+24G=) c.*410+24G= (n.*410+24G=) n.677+24G= c.438+24G= (n.438+24G=) c.801+24G= (n.801+24G=) | |
X | g.80026893A= | CA2439980790 | TBX22 | c.798+25A= (n.798+25A=) c.*410+25A= (n.*410+25A=) n.677+25A= c.438+25A= (n.438+25A=) c.801+25A= (n.801+25A=) | |
X | g.80026893A>G | CA2439980791 | TBX22 | c.798+25A>G (n.798+25A>G) c.*410+25A>G (n.*410+25A>G) n.677+25A>G c.438+25A>G (n.438+25A>G) c.801+25A>G (n.801+25A>G) | dbSNP gnomAD v4 |
X | g.80026896G>A | CA643006899 | TBX22 | c.798+28G>A (n.798+28G>A) c.*410+28G>A (n.*410+28G>A) n.677+28G>A c.438+28G>A (n.438+28G>A) c.801+28G>A (n.801+28G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.80026896G= | CA2439980792 | TBX22 | c.798+28G= (n.798+28G=) c.*410+28G= (n.*410+28G=) n.677+28G= c.438+28G= (n.438+28G=) c.801+28G= (n.801+28G=) | |
X | g.80026901T>C | CA10461301 | TBX22 | c.798+33T>C (n.798+33T>C) c.*410+33T>C (n.*410+33T>C) n.677+33T>C c.438+33T>C (n.438+33T>C) c.801+33T>C (n.801+33T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.80026901T= | CA2439980793 | TBX22 | c.798+33T= (n.798+33T=) c.*410+33T= (n.*410+33T=) n.677+33T= c.438+33T= (n.438+33T=) c.801+33T= (n.801+33T=) | |
X | g.80026903G>A | CA2694191746 | TBX22 | c.798+35G>A (n.798+35G>A) c.*410+35G>A (n.*410+35G>A) n.677+35G>A c.438+35G>A (n.438+35G>A) c.801+35G>A (n.801+35G>A) | gnomAD v4 |
X | g.80026904C>A | CA2694191747 | TBX22 | c.798+36C>A (n.798+36C>A) c.*410+36C>A (n.*410+36C>A) n.677+36C>A c.438+36C>A (n.438+36C>A) c.801+36C>A (n.801+36C>A) | gnomAD v4 |
X | g.80026905T>C | CA2694191748 | TBX22 | c.798+37T>C (n.798+37T>C) c.*410+37T>C (n.*410+37T>C) n.677+37T>C c.438+37T>C (n.438+37T>C) c.801+37T>C (n.801+37T>C) | gnomAD v4 |
X | g.80026906C>A | CA643006900 | TBX22 | c.798+38C>A (n.798+38C>A) c.*410+38C>A (n.*410+38C>A) n.677+38C>A c.438+38C>A (n.438+38C>A) c.801+38C>A (n.801+38C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.80026906C= | CA2439980794 | TBX22 | c.798+38C= (n.798+38C=) c.*410+38C= (n.*410+38C=) n.677+38C= c.438+38C= (n.438+38C=) c.801+38C= (n.801+38C=) | |
X | g.80026906C>T | CA10461302 | TBX22 | c.798+38C>T (n.798+38C>T) c.*410+38C>T (n.*410+38C>T) n.677+38C>T c.438+38C>T (n.438+38C>T) c.801+38C>T (n.801+38C>T) | dbSNP ExAC |
X | g.80026907del | CA2579651962 | TBX22 | c.798+39del (n.798+39del) c.*410+39del (n.*410+39del) n.677+39del c.438+39del (n.438+39del) c.801+39del (n.801+39del) | |
X | g.80026908A>C | CA2579651963 | TBX22 | c.798+40A>C (n.798+40A>C) c.*410+40A>C (n.*410+40A>C) n.677+40A>C c.438+40A>C (n.438+40A>C) c.801+40A>C (n.801+40A>C) | gnomAD v4 |
X | g.80026909G>A | CA1134614668 | TBX22 | c.798+41G>A (n.798+41G>A) c.*410+41G>A (n.*410+41G>A) n.677+41G>A c.438+41G>A (n.438+41G>A) c.801+41G>A (n.801+41G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.80026909G= | CA2439980795 | TBX22 | c.798+41G= (n.798+41G=) c.*410+41G= (n.*410+41G=) n.677+41G= c.438+41G= (n.438+41G=) c.801+41G= (n.801+41G=) | |
X | g.80026910A>G | CA2536964966 | TBX22 | c.798+42A>G (n.798+42A>G) c.*410+42A>G (n.*410+42A>G) n.677+42A>G c.438+42A>G (n.438+42A>G) c.801+42A>G (n.801+42A>G) | gnomAD v4 |
X | g.80026912G>A | CA2694191749 | TBX22 | c.798+44G>A (n.798+44G>A) c.*410+44G>A (n.*410+44G>A) n.677+44G>A c.438+44G>A (n.438+44G>A) c.801+44G>A (n.801+44G>A) | gnomAD v4 |
X | g.80026913G>A | CA643006901 | TBX22 | c.798+45G>A (n.798+45G>A) c.*410+45G>A (n.*410+45G>A) n.677+45G>A c.438+45G>A (n.438+45G>A) c.801+45G>A (n.801+45G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.80026913G= | CA2439980796 | TBX22 | c.798+45G= (n.798+45G=) c.*410+45G= (n.*410+45G=) n.677+45G= c.438+45G= (n.438+45G=) c.801+45G= (n.801+45G=) | |
X | g.80026914A= | CA2439980797 | TBX22 | c.798+46A= (n.798+46A=) c.*410+46A= (n.*410+46A=) n.677+46A= c.438+46A= (n.438+46A=) c.801+46A= (n.801+46A=) | |
X | g.80026914A>G | CA10461303 | TBX22 | c.798+46A>G (n.798+46A>G) c.*410+46A>G (n.*410+46A>G) n.677+46A>G c.438+46A>G (n.438+46A>G) c.801+46A>G (n.801+46A>G) | dbSNP ExAC |
X | g.80026916C>T | CA2694191750 | TBX22 | c.798+48C>T (n.798+48C>T) c.*410+48C>T (n.*410+48C>T) n.677+48C>T c.438+48C>T (n.438+48C>T) c.801+48C>T (n.801+48C>T) | gnomAD v4 |
X | g.80026917T>A | CA2579651964 | TBX22 | c.798+49T>A (n.798+49T>A) c.*410+49T>A (n.*410+49T>A) n.677+49T>A c.438+49T>A (n.438+49T>A) c.801+49T>A (n.801+49T>A) | |
X | g.80026917T>C | CA2694191751 | TBX22 | c.798+49T>C (n.798+49T>C) c.*410+49T>C (n.*410+49T>C) n.677+49T>C c.438+49T>C (n.438+49T>C) c.801+49T>C (n.801+49T>C) | gnomAD v4 |