Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.28529058A>GCA2576207891FOXN1c.700-36A>G (n.700-36A>G)
c.*1196-72949T>C (n.*1196-72949T>C)
c.757-36A>G (n.757-36A>G)
c.754-36A>G (n.754-36A>G)
c.736-36A>G (n.736-36A>G)
c.703-36A>G (n.703-36A>G)
c.235-36A>G (n.235-36A>G)
c.157-36A>G (n.157-36A>G)
c.142-36A>G (n.142-36A>G)
c.64-36A>G (n.64-36A>G)
17g.28529059C>TCA2636835848FOXN1c.700-35C>T (n.700-35C>T)
c.*1196-72950G>A (n.*1196-72950G>A)
c.757-35C>T (n.757-35C>T)
c.754-35C>T (n.754-35C>T)
c.736-35C>T (n.736-35C>T)
c.703-35C>T (n.703-35C>T)
c.235-35C>T (n.235-35C>T)
c.157-35C>T (n.157-35C>T)
c.142-35C>T (n.142-35C>T)
c.64-35C>T (n.64-35C>T)
gnomAD v4
17g.28529061A=CA2254345648FOXN1c.700-33A= (n.700-33A=)
c.*1196-72952T= (n.*1196-72952T=)
c.757-33A= (n.757-33A=)
c.754-33A= (n.754-33A=)
c.736-33A= (n.736-33A=)
c.703-33A= (n.703-33A=)
c.235-33A= (n.235-33A=)
c.157-33A= (n.157-33A=)
c.142-33A= (n.142-33A=)
c.64-33A= (n.64-33A=)
17g.28529061A>GCA8459310FOXN1c.700-33A>G (n.700-33A>G)
c.*1196-72952T>C (n.*1196-72952T>C)
c.757-33A>G (n.757-33A>G)
c.754-33A>G (n.754-33A>G)
c.736-33A>G (n.736-33A>G)
c.703-33A>G (n.703-33A>G)
c.235-33A>G (n.235-33A>G)
c.157-33A>G (n.157-33A>G)
c.142-33A>G (n.142-33A>G)
c.64-33A>G (n.64-33A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.28529063G=CA2254345649FOXN1c.700-31G= (n.700-31G=)
c.*1196-72954C= (n.*1196-72954C=)
c.757-31G= (n.757-31G=)
c.754-31G= (n.754-31G=)
c.736-31G= (n.736-31G=)
c.703-31G= (n.703-31G=)
c.235-31G= (n.235-31G=)
c.157-31G= (n.157-31G=)
c.142-31G= (n.142-31G=)
c.64-31G= (n.64-31G=)
17g.28529063G>TCA8459311FOXN1c.700-31G>T (n.700-31G>T)
c.*1196-72954C>A (n.*1196-72954C>A)
c.757-31G>T (n.757-31G>T)
c.754-31G>T (n.754-31G>T)
c.736-31G>T (n.736-31G>T)
c.703-31G>T (n.703-31G>T)
c.235-31G>T (n.235-31G>T)
c.157-31G>T (n.157-31G>T)
c.142-31G>T (n.142-31G>T)
c.64-31G>T (n.64-31G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28529064C>ACA2576207892FOXN1c.700-30C>A (n.700-30C>A)
c.*1196-72955G>T (n.*1196-72955G>T)
c.757-30C>A (n.757-30C>A)
c.754-30C>A (n.754-30C>A)
c.736-30C>A (n.736-30C>A)
c.703-30C>A (n.703-30C>A)
c.235-30C>A (n.235-30C>A)
c.157-30C>A (n.157-30C>A)
c.142-30C>A (n.142-30C>A)
c.64-30C>A (n.64-30C>A)
gnomAD v4
17g.28529064C=CA2254345650FOXN1c.700-30C= (n.700-30C=)
c.*1196-72955G= (n.*1196-72955G=)
c.757-30C= (n.757-30C=)
c.754-30C= (n.754-30C=)
c.736-30C= (n.736-30C=)
c.703-30C= (n.703-30C=)
c.235-30C= (n.235-30C=)
c.157-30C= (n.157-30C=)
c.142-30C= (n.142-30C=)
c.64-30C= (n.64-30C=)
17g.28529064C>TCA8459312FOXN1c.700-30C>T (n.700-30C>T)
c.*1196-72955G>A (n.*1196-72955G>A)
c.757-30C>T (n.757-30C>T)
c.754-30C>T (n.754-30C>T)
c.736-30C>T (n.736-30C>T)
c.703-30C>T (n.703-30C>T)
c.235-30C>T (n.235-30C>T)
c.157-30C>T (n.157-30C>T)
c.142-30C>T (n.142-30C>T)
c.64-30C>T (n.64-30C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.28529065A=CA2254345651FOXN1c.700-29A= (n.700-29A=)
c.*1196-72956T= (n.*1196-72956T=)
c.757-29A= (n.757-29A=)
c.754-29A= (n.754-29A=)
c.736-29A= (n.736-29A=)
c.703-29A= (n.703-29A=)
c.235-29A= (n.235-29A=)
c.157-29A= (n.157-29A=)
c.142-29A= (n.142-29A=)
c.64-29A= (n.64-29A=)
17g.28529065A>CCA8459313FOXN1c.700-29A>C (n.700-29A>C)
c.*1196-72956T>G (n.*1196-72956T>G)
c.757-29A>C (n.757-29A>C)
c.754-29A>C (n.754-29A>C)
c.736-29A>C (n.736-29A>C)
c.703-29A>C (n.703-29A>C)
c.235-29A>C (n.235-29A>C)
c.157-29A>C (n.157-29A>C)
c.142-29A>C (n.142-29A>C)
c.64-29A>C (n.64-29A>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28529066A>GCA2576207893FOXN1c.700-28A>G (n.700-28A>G)
c.*1196-72957T>C (n.*1196-72957T>C)
c.757-28A>G (n.757-28A>G)
c.754-28A>G (n.754-28A>G)
c.736-28A>G (n.736-28A>G)
c.703-28A>G (n.703-28A>G)
c.235-28A>G (n.235-28A>G)
c.157-28A>G (n.157-28A>G)
c.142-28A>G (n.142-28A>G)
c.64-28A>G (n.64-28A>G)
17g.28529070C=CA2254345652FOXN1c.700-24C= (n.700-24C=)
c.*1196-72961G= (n.*1196-72961G=)
c.757-24C= (n.757-24C=)
c.754-24C= (n.754-24C=)
c.736-24C= (n.736-24C=)
c.703-24C= (n.703-24C=)
c.235-24C= (n.235-24C=)
c.157-24C= (n.157-24C=)
c.142-24C= (n.142-24C=)
c.64-24C= (n.64-24C=)
17g.28529070C>TCA8459314FOXN1c.700-24C>T (n.700-24C>T)
c.*1196-72961G>A (n.*1196-72961G>A)
c.757-24C>T (n.757-24C>T)
c.754-24C>T (n.754-24C>T)
c.736-24C>T (n.736-24C>T)
c.703-24C>T (n.703-24C>T)
c.235-24C>T (n.235-24C>T)
c.157-24C>T (n.157-24C>T)
c.142-24C>T (n.142-24C>T)
c.64-24C>T (n.64-24C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28529072C>GCA2636835849FOXN1c.700-22C>G (n.700-22C>G)
c.*1196-72963G>C (n.*1196-72963G>C)
c.757-22C>G (n.757-22C>G)
c.754-22C>G (n.754-22C>G)
c.736-22C>G (n.736-22C>G)
c.703-22C>G (n.703-22C>G)
c.235-22C>G (n.235-22C>G)
c.157-22C>G (n.157-22C>G)
c.142-22C>G (n.142-22C>G)
c.64-22C>G (n.64-22C>G)
gnomAD v4
17g.28529074G>ACA8459315FOXN1c.700-20G>A (n.700-20G>A)
c.*1196-72965C>T (n.*1196-72965C>T)
c.757-20G>A (n.757-20G>A)
c.754-20G>A (n.754-20G>A)
c.736-20G>A (n.736-20G>A)
c.703-20G>A (n.703-20G>A)
c.235-20G>A (n.235-20G>A)
c.157-20G>A (n.157-20G>A)
c.142-20G>A (n.142-20G>A)
c.64-20G>A (n.64-20G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.28529074G=CA2254345653FOXN1c.700-20G= (n.700-20G=)
c.*1196-72965C= (n.*1196-72965C=)
c.757-20G= (n.757-20G=)
c.754-20G= (n.754-20G=)
c.736-20G= (n.736-20G=)
c.703-20G= (n.703-20G=)
c.235-20G= (n.235-20G=)
c.157-20G= (n.157-20G=)
c.142-20G= (n.142-20G=)
c.64-20G= (n.64-20G=)
17g.28529074G>TCA2636835850FOXN1c.700-20G>T (n.700-20G>T)
c.*1196-72965C>A (n.*1196-72965C>A)
c.757-20G>T (n.757-20G>T)
c.754-20G>T (n.754-20G>T)
c.736-20G>T (n.736-20G>T)
c.703-20G>T (n.703-20G>T)
c.235-20G>T (n.235-20G>T)
c.157-20G>T (n.157-20G>T)
c.142-20G>T (n.142-20G>T)
c.64-20G>T (n.64-20G>T)
gnomAD v4
17g.28529075C>ACA2636835851FOXN1c.700-19C>A (n.700-19C>A)
c.*1196-72966G>T (n.*1196-72966G>T)
c.757-19C>A (n.757-19C>A)
c.754-19C>A (n.754-19C>A)
c.736-19C>A (n.736-19C>A)
c.703-19C>A (n.703-19C>A)
c.235-19C>A (n.235-19C>A)
c.157-19C>A (n.157-19C>A)
c.142-19C>A (n.142-19C>A)
c.64-19C>A (n.64-19C>A)
gnomAD v4
17g.28529075C=CA2254345654FOXN1c.700-19C= (n.700-19C=)
c.*1196-72966G= (n.*1196-72966G=)
c.757-19C= (n.757-19C=)
c.754-19C= (n.754-19C=)
c.736-19C= (n.736-19C=)
c.703-19C= (n.703-19C=)
c.235-19C= (n.235-19C=)
c.157-19C= (n.157-19C=)
c.142-19C= (n.142-19C=)
c.64-19C= (n.64-19C=)
17g.28529075C>TCA2254345655FOXN1c.700-19C>T (n.700-19C>T)
c.*1196-72966G>A (n.*1196-72966G>A)
c.757-19C>T (n.757-19C>T)
c.754-19C>T (n.754-19C>T)
c.736-19C>T (n.736-19C>T)
c.703-19C>T (n.703-19C>T)
c.235-19C>T (n.235-19C>T)
c.157-19C>T (n.157-19C>T)
c.142-19C>T (n.142-19C>T)
c.64-19C>T (n.64-19C>T)
ClinVar dbSNP
17g.28529076C>TCA2576207894FOXN1c.700-18C>T (n.700-18C>T)
c.*1196-72967G>A (n.*1196-72967G>A)
c.757-18C>T (n.757-18C>T)
c.754-18C>T (n.754-18C>T)
c.736-18C>T (n.736-18C>T)
c.703-18C>T (n.703-18C>T)
c.235-18C>T (n.235-18C>T)
c.157-18C>T (n.157-18C>T)
c.142-18C>T (n.142-18C>T)
c.64-18C>T (n.64-18C>T)
ClinVar gnomAD v4
17g.28529077C>ACA2809116962FOXN1c.700-17C>A (n.700-17C>A)
c.*1196-72968G>T (n.*1196-72968G>T)
c.757-17C>A (n.757-17C>A)
c.754-17C>A (n.754-17C>A)
c.736-17C>A (n.736-17C>A)
c.703-17C>A (n.703-17C>A)
c.235-17C>A (n.235-17C>A)
c.157-17C>A (n.157-17C>A)
c.142-17C>A (n.142-17C>A)
c.64-17C>A (n.64-17C>A)
17g.28529077C>GCA2636835852FOXN1c.700-17C>G (n.700-17C>G)
c.*1196-72968G>C (n.*1196-72968G>C)
c.757-17C>G (n.757-17C>G)
c.754-17C>G (n.754-17C>G)
c.736-17C>G (n.736-17C>G)
c.703-17C>G (n.703-17C>G)
c.235-17C>G (n.235-17C>G)
c.157-17C>G (n.157-17C>G)
c.142-17C>G (n.142-17C>G)
c.64-17C>G (n.64-17C>G)
gnomAD v4
17g.28529078C=CA2254345656FOXN1c.700-16C= (n.700-16C=)
c.*1196-72969G= (n.*1196-72969G=)
c.757-16C= (n.757-16C=)
c.754-16C= (n.754-16C=)
c.736-16C= (n.736-16C=)
c.703-16C= (n.703-16C=)
c.235-16C= (n.235-16C=)
c.157-16C= (n.157-16C=)
c.142-16C= (n.142-16C=)
c.64-16C= (n.64-16C=)
17g.28529078C>TCA8459316FOXN1c.700-16C>T (n.700-16C>T)
c.*1196-72969G>A (n.*1196-72969G>A)
c.757-16C>T (n.757-16C>T)
c.754-16C>T (n.754-16C>T)
c.736-16C>T (n.736-16C>T)
c.703-16C>T (n.703-16C>T)
c.235-16C>T (n.235-16C>T)
c.157-16C>T (n.157-16C>T)
c.142-16C>T (n.142-16C>T)
c.64-16C>T (n.64-16C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.28529081T>CCA2636835853FOXN1c.700-13T>C (n.700-13T>C)
c.*1196-72972A>G (n.*1196-72972A>G)
c.757-13T>C (n.757-13T>C)
c.754-13T>C (n.754-13T>C)
c.736-13T>C (n.736-13T>C)
c.703-13T>C (n.703-13T>C)
c.235-13T>C (n.235-13T>C)
c.157-13T>C (n.157-13T>C)
c.142-13T>C (n.142-13T>C)
c.64-13T>C (n.64-13T>C)
gnomAD v4
17g.28529083G>ACA8459317FOXN1c.700-11G>A (n.700-11G>A)
c.*1196-72974C>T (n.*1196-72974C>T)
c.757-11G>A (n.757-11G>A)
c.754-11G>A (n.754-11G>A)
c.736-11G>A (n.736-11G>A)
c.703-11G>A (n.703-11G>A)
c.235-11G>A (n.235-11G>A)
c.157-11G>A (n.157-11G>A)
c.142-11G>A (n.142-11G>A)
c.64-11G>A (n.64-11G>A)
dbSNP ExAC gnomAD v2
17g.28529083G=CA2254345657FOXN1c.700-11G= (n.700-11G=)
c.*1196-72974C= (n.*1196-72974C=)
c.757-11G= (n.757-11G=)
c.754-11G= (n.754-11G=)
c.736-11G= (n.736-11G=)
c.703-11G= (n.703-11G=)
c.235-11G= (n.235-11G=)
c.157-11G= (n.157-11G=)
c.142-11G= (n.142-11G=)
c.64-11G= (n.64-11G=)
17g.28529083G>TCA2809116963FOXN1c.700-11G>T (n.700-11G>T)
c.*1196-72974C>A (n.*1196-72974C>A)
c.757-11G>T (n.757-11G>T)
c.754-11G>T (n.754-11G>T)
c.736-11G>T (n.736-11G>T)
c.703-11G>T (n.703-11G>T)
c.235-11G>T (n.235-11G>T)
c.157-11G>T (n.157-11G>T)
c.142-11G>T (n.142-11G>T)
c.64-11G>T (n.64-11G>T)
17g.28529085C>ACA8459318FOXN1c.700-9C>A (n.700-9C>A)
c.*1196-72976G>T (n.*1196-72976G>T)
c.757-9C>A (n.757-9C>A)
c.754-9C>A (n.754-9C>A)
c.736-9C>A (n.736-9C>A)
c.703-9C>A (n.703-9C>A)
c.235-9C>A (n.235-9C>A)
c.157-9C>A (n.157-9C>A)
c.142-9C>A (n.142-9C>A)
c.64-9C>A (n.64-9C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28529085C=CA2254345658FOXN1c.700-9C= (n.700-9C=)
c.*1196-72976G= (n.*1196-72976G=)
c.757-9C= (n.757-9C=)
c.754-9C= (n.754-9C=)
c.736-9C= (n.736-9C=)
c.703-9C= (n.703-9C=)
c.235-9C= (n.235-9C=)
c.157-9C= (n.157-9C=)
c.142-9C= (n.142-9C=)
c.64-9C= (n.64-9C=)
17g.28529085C>TCA8459319FOXN1c.700-9C>T (n.700-9C>T)
c.*1196-72976G>A (n.*1196-72976G>A)
c.757-9C>T (n.757-9C>T)
c.754-9C>T (n.754-9C>T)
c.736-9C>T (n.736-9C>T)
c.703-9C>T (n.703-9C>T)
c.235-9C>T (n.235-9C>T)
c.157-9C>T (n.157-9C>T)
c.142-9C>T (n.142-9C>T)
c.64-9C>T (n.64-9C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.28529086C>TCA2636835854FOXN1c.700-8C>T (n.700-8C>T)
c.*1196-72977G>A (n.*1196-72977G>A)
c.757-8C>T (n.757-8C>T)
c.754-8C>T (n.754-8C>T)
c.736-8C>T (n.736-8C>T)
c.703-8C>T (n.703-8C>T)
c.235-8C>T (n.235-8C>T)
c.157-8C>T (n.157-8C>T)
c.142-8C>T (n.142-8C>T)
c.64-8C>T (n.64-8C>T)
gnomAD v4
17g.28529087T>CCA2499223947FOXN1c.700-7T>C (n.700-7T>C)
c.*1196-72978A>G (n.*1196-72978A>G)
c.757-7T>C (n.757-7T>C)
c.754-7T>C (n.754-7T>C)
c.736-7T>C (n.736-7T>C)
c.703-7T>C (n.703-7T>C)
c.235-7T>C (n.235-7T>C)
c.157-7T>C (n.157-7T>C)
c.142-7T>C (n.142-7T>C)
c.64-7T>C (n.64-7T>C)
ClinVar dbSNP
17g.28529088C>GCA2636835855FOXN1c.700-6C>G (n.700-6C>G)
c.*1196-72979G>C (n.*1196-72979G>C)
c.757-6C>G (n.757-6C>G)
c.754-6C>G (n.754-6C>G)
c.736-6C>G (n.736-6C>G)
c.703-6C>G (n.703-6C>G)
c.235-6C>G (n.235-6C>G)
c.157-6C>G (n.157-6C>G)
c.142-6C>G (n.142-6C>G)
c.64-6C>G (n.64-6C>G)
gnomAD v4
17g.28529089C>TCA2576207895FOXN1c.700-5C>T (n.700-5C>T)
c.*1196-72980G>A (n.*1196-72980G>A)
c.757-5C>T (n.757-5C>T)
c.754-5C>T (n.754-5C>T)
c.736-5C>T (n.736-5C>T)
c.703-5C>T (n.703-5C>T)
c.235-5C>T (n.235-5C>T)
c.157-5C>T (n.157-5C>T)
c.142-5C>T (n.142-5C>T)
c.64-5C>T (n.64-5C>T)
gnomAD v4
17g.28529097_28529153dupCA2636835856FOXN1c.703_759dup
c.*1196-73037_*1196-72981dup (n.*1196-73037_*1196-72981dup)
c.760_816dup
c.757_813dup
c.739_795dup
c.706_762dup
c.238_294dup
c.160_216dup
c.145_201dup
c.67_123dup
gnomAD v4
17g.28529091C=CA2254345659FOXN1c.700-3C= (n.700-3C=)
c.*1196-72982G= (n.*1196-72982G=)
c.757-3C= (n.757-3C=)
c.754-3C= (n.754-3C=)
c.736-3C= (n.736-3C=)
c.703-3C= (n.703-3C=)
c.235-3C= (n.235-3C=)
c.157-3C= (n.157-3C=)
c.142-3C= (n.142-3C=)
c.64-3C= (n.64-3C=)
17g.28529091C>TCA8459320FOXN1c.700-3C>T (n.700-3C>T)
c.*1196-72982G>A (n.*1196-72982G>A)
c.757-3C>T (n.757-3C>T)
c.754-3C>T (n.754-3C>T)
c.736-3C>T (n.736-3C>T)
c.703-3C>T (n.703-3C>T)
c.235-3C>T (n.235-3C>T)
c.157-3C>T (n.157-3C>T)
c.142-3C>T (n.142-3C>T)
c.64-3C>T (n.64-3C>T)
dbSNP ExAC
17g.28529092A>CCA398322899FOXN1c.700-2A>C (n.700-2A>C)
c.*1196-72983T>G (n.*1196-72983T>G)
c.757-2A>C (n.757-2A>C)
c.754-2A>C (n.754-2A>C)
c.736-2A>C (n.736-2A>C)
c.703-2A>C (n.703-2A>C)
c.235-2A>C (n.235-2A>C)
c.157-2A>C (n.157-2A>C)
c.142-2A>C (n.142-2A>C)
c.64-2A>C (n.64-2A>C)
17g.28529092A>GCA398322901FOXN1c.700-2A>G (n.700-2A>G)
c.*1196-72983T>C (n.*1196-72983T>C)
c.757-2A>G (n.757-2A>G)
c.754-2A>G (n.754-2A>G)
c.736-2A>G (n.736-2A>G)
c.703-2A>G (n.703-2A>G)
c.235-2A>G (n.235-2A>G)
c.157-2A>G (n.157-2A>G)
c.142-2A>G (n.142-2A>G)
c.64-2A>G (n.64-2A>G)
17g.28529092A>TCA398322902FOXN1c.700-2A>T (n.700-2A>T)
c.*1196-72983T>A (n.*1196-72983T>A)
c.757-2A>T (n.757-2A>T)
c.754-2A>T (n.754-2A>T)
c.736-2A>T (n.736-2A>T)
c.703-2A>T (n.703-2A>T)
c.235-2A>T (n.235-2A>T)
c.157-2A>T (n.157-2A>T)
c.142-2A>T (n.142-2A>T)
c.64-2A>T (n.64-2A>T)
17g.28529093G>ACA398322904FOXN1c.700-1G>A (n.700-1G>A)
c.*1196-72984C>T (n.*1196-72984C>T)
c.757-1G>A (n.757-1G>A)
c.754-1G>A (n.754-1G>A)
c.736-1G>A (n.736-1G>A)
c.703-1G>A (n.703-1G>A)
c.235-1G>A (n.235-1G>A)
c.157-1G>A (n.157-1G>A)
c.142-1G>A (n.142-1G>A)
c.64-1G>A (n.64-1G>A)
COSMIC
17g.28529093G>CCA398322905FOXN1c.700-1G>C (n.700-1G>C)
c.*1196-72984C>G (n.*1196-72984C>G)
c.757-1G>C (n.757-1G>C)
c.754-1G>C (n.754-1G>C)
c.736-1G>C (n.736-1G>C)
c.703-1G>C (n.703-1G>C)
c.235-1G>C (n.235-1G>C)
c.157-1G>C (n.157-1G>C)
c.142-1G>C (n.142-1G>C)
c.64-1G>C (n.64-1G>C)
17g.28529093G>TCA398322907FOXN1c.700-1G>T (n.700-1G>T)
c.*1196-72984C>A (n.*1196-72984C>A)
c.757-1G>T (n.757-1G>T)
c.754-1G>T (n.754-1G>T)
c.736-1G>T (n.736-1G>T)
c.703-1G>T (n.703-1G>T)
c.235-1G>T (n.235-1G>T)
c.157-1G>T (n.157-1G>T)
c.142-1G>T (n.142-1G>T)
c.64-1G>T (n.64-1G>T)
17g.28529094T>ACA398322912FOXN1c.700T>A (p.Tyr234Asn)
c.*1196-72985A>T (n.*1196-72985A>T)
c.757T>A (p.Tyr253Asn)
c.754T>A (p.Tyr252Asn)
c.736T>A (p.Tyr246Asn)
c.703T>A (p.Tyr235Asn)
c.235T>A (p.Tyr79Asn)
c.157T>A (p.Tyr53Asn)
c.142T>A (p.Tyr48Asn)
c.64T>A (p.Tyr22Asn)
17g.28529094T>CCA398322909FOXN1c.700T>C (p.Tyr234His)
c.*1196-72985A>G (n.*1196-72985A>G)
c.757T>C (p.Tyr253His)
c.754T>C (p.Tyr252His)
c.736T>C (p.Tyr246His)
c.703T>C (p.Tyr235His)
c.235T>C (p.Tyr79His)
c.157T>C (p.Tyr53His)
c.142T>C (p.Tyr48His)
c.64T>C (p.Tyr22His)
gnomAD v4
17g.28529094T>GCA398322910FOXN1c.700T>G (p.Tyr234Asp)
c.*1196-72985A>C (n.*1196-72985A>C)
c.757T>G (p.Tyr253Asp)
c.754T>G (p.Tyr252Asp)
c.736T>G (p.Tyr246Asp)
c.703T>G (p.Tyr235Asp)
c.235T>G (p.Tyr79Asp)
c.157T>G (p.Tyr53Asp)
c.142T>G (p.Tyr48Asp)
c.64T>G (p.Tyr22Asp)
dbSNP gnomAD v3 gnomAD v4
17g.28529094T=CA2254345660FOXN1c.700T= (p.Tyr234=)
c.*1196-72985A= (n.*1196-72985A=)
c.757T= (p.Tyr253=)
c.754T= (p.Tyr252=)
c.736T= (p.Tyr246=)
c.703T= (p.Tyr235=)
c.235T= (p.Tyr79=)
c.157T= (p.Tyr53=)
c.142T= (p.Tyr48=)
c.64T= (p.Tyr22=)
17g.28529095A>CCA398322914FOXN1c.701A>C (p.Tyr234Ser)
c.*1196-72986T>G (n.*1196-72986T>G)
c.758A>C (p.Tyr253Ser)
c.755A>C (p.Tyr252Ser)
c.737A>C (p.Tyr246Ser)
c.704A>C (p.Tyr235Ser)
c.236A>C (p.Tyr79Ser)
c.158A>C (p.Tyr53Ser)
c.143A>C (p.Tyr48Ser)
c.65A>C (p.Tyr22Ser)
17g.28529095A>GCA398322916FOXN1c.701A>G (p.Tyr234Cys)
c.*1196-72986T>C (n.*1196-72986T>C)
c.758A>G (p.Tyr253Cys)
c.755A>G (p.Tyr252Cys)
c.737A>G (p.Tyr246Cys)
c.704A>G (p.Tyr235Cys)
c.236A>G (p.Tyr79Cys)
c.158A>G (p.Tyr53Cys)
c.143A>G (p.Tyr48Cys)
c.65A>G (p.Tyr22Cys)
17g.28529095A>TCA398322917FOXN1c.701A>T (p.Tyr234Phe)
c.*1196-72986T>A (n.*1196-72986T>A)
c.758A>T (p.Tyr253Phe)
c.755A>T (p.Tyr252Phe)
c.737A>T (p.Tyr246Phe)
c.704A>T (p.Tyr235Phe)
c.236A>T (p.Tyr79Phe)
c.158A>T (p.Tyr53Phe)
c.143A>T (p.Tyr48Phe)
c.65A>T (p.Tyr22Phe)
17g.28529096C>ACA398322919FOXN1c.702C>A (p.Tyr234Ter)
c.*1196-72987G>T (n.*1196-72987G>T)
c.759C>A (p.Tyr253Ter)
c.756C>A (p.Tyr252Ter)
c.738C>A (p.Tyr246Ter)
c.705C>A (p.Tyr235Ter)
c.237C>A (p.Tyr79Ter)
c.159C>A (p.Tyr53Ter)
c.144C>A (p.Tyr48Ter)
c.66C>A (p.Tyr22Ter)
17g.28529096C=CA2254345661FOXN1c.702C= (p.Tyr234=)
c.*1196-72987G= (n.*1196-72987G=)
c.759C= (p.Tyr253=)
c.756C= (p.Tyr252=)
c.738C= (p.Tyr246=)
c.705C= (p.Tyr235=)
c.237C= (p.Tyr79=)
c.159C= (p.Tyr53=)
c.144C= (p.Tyr48=)
c.66C= (p.Tyr22=)
17g.28529096C>GCA398322921FOXN1c.702C>G (p.Tyr234Ter)
c.*1196-72987G>C (n.*1196-72987G>C)
c.759C>G (p.Tyr253Ter)
c.756C>G (p.Tyr252Ter)
c.738C>G (p.Tyr246Ter)
c.705C>G (p.Tyr235Ter)
c.237C>G (p.Tyr79Ter)
c.159C>G (p.Tyr53Ter)
c.144C>G (p.Tyr48Ter)
c.66C>G (p.Tyr22Ter)
17g.28529096C>TCA499088046FOXN1c.702C>T (p.Tyr234=)
c.*1196-72987G>A (n.*1196-72987G>A)
c.759C>T (p.Tyr253=)
c.756C>T (p.Tyr252=)
c.738C>T (p.Tyr246=)
c.705C>T (p.Tyr235=)
c.237C>T (p.Tyr79=)
c.159C>T (p.Tyr53=)
c.144C>T (p.Tyr48=)
c.66C>T (p.Tyr22=)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.28529097T>ACA398322922FOXN1c.703T>A (p.Ser235Thr)
c.*1196-72988A>T (n.*1196-72988A>T)
c.760T>A (p.Ser254Thr)
c.757T>A (p.Ser253Thr)
c.739T>A (p.Ser247Thr)
c.706T>A (p.Ser236Thr)
c.238T>A (p.Ser80Thr)
c.160T>A (p.Ser54Thr)
c.145T>A (p.Ser49Thr)
c.67T>A (p.Ser23Thr)
17g.28529097T>CCA398322924FOXN1c.703T>C (p.Ser235Pro)
c.*1196-72988A>G (n.*1196-72988A>G)
c.760T>C (p.Ser254Pro)
c.757T>C (p.Ser253Pro)
c.739T>C (p.Ser247Pro)
c.706T>C (p.Ser236Pro)
c.238T>C (p.Ser80Pro)
c.160T>C (p.Ser54Pro)
c.145T>C (p.Ser49Pro)
c.67T>C (p.Ser23Pro)
dbSNP gnomAD v2 gnomAD v4
17g.28529097T>GCA398322926FOXN1c.703T>G (p.Ser235Ala)
c.*1196-72988A>C (n.*1196-72988A>C)
c.760T>G (p.Ser254Ala)
c.757T>G (p.Ser253Ala)
c.739T>G (p.Ser247Ala)
c.706T>G (p.Ser236Ala)
c.238T>G (p.Ser80Ala)
c.160T>G (p.Ser54Ala)
c.145T>G (p.Ser49Ala)
c.67T>G (p.Ser23Ala)
17g.28529097T=CA2254345662FOXN1c.703T= (p.Ser235=)
c.*1196-72988A= (n.*1196-72988A=)
c.760T= (p.Ser254=)
c.757T= (p.Ser253=)
c.739T= (p.Ser247=)
c.706T= (p.Ser236=)
c.238T= (p.Ser80=)
c.160T= (p.Ser54=)
c.145T= (p.Ser49=)
c.67T= (p.Ser23=)
17g.28529098C>ACA398322928FOXN1c.704C>A (p.Ser235Ter)
c.*1196-72989G>T (n.*1196-72989G>T)
c.761C>A (p.Ser254Ter)
c.758C>A (p.Ser253Ter)
c.740C>A (p.Ser247Ter)
c.707C>A (p.Ser236Ter)
c.239C>A (p.Ser80Ter)
c.161C>A (p.Ser54Ter)
c.146C>A (p.Ser49Ter)
c.68C>A (p.Ser23Ter)
17g.28529098C=CA2254345663FOXN1c.704C= (p.Ser235=)
c.*1196-72989G= (n.*1196-72989G=)
c.761C= (p.Ser254=)
c.758C= (p.Ser253=)
c.740C= (p.Ser247=)
c.707C= (p.Ser236=)
c.239C= (p.Ser80=)
c.161C= (p.Ser54=)
c.146C= (p.Ser49=)
c.68C= (p.Ser23=)
17g.28529098C>GCA398322929FOXN1c.704C>G (p.Ser235Trp)
c.*1196-72989G>C (n.*1196-72989G>C)
c.761C>G (p.Ser254Trp)
c.758C>G (p.Ser253Trp)
c.740C>G (p.Ser247Trp)
c.707C>G (p.Ser236Trp)
c.239C>G (p.Ser80Trp)
c.161C>G (p.Ser54Trp)
c.146C>G (p.Ser49Trp)
c.68C>G (p.Ser23Trp)
17g.28529098C>TCA8459321FOXN1c.704C>T (p.Ser235Leu)
c.*1196-72989G>A (n.*1196-72989G>A)
c.761C>T (p.Ser254Leu)
c.758C>T (p.Ser253Leu)
c.740C>T (p.Ser247Leu)
c.707C>T (p.Ser236Leu)
c.239C>T (p.Ser80Leu)
c.161C>T (p.Ser54Leu)
c.146C>T (p.Ser49Leu)
c.68C>T (p.Ser23Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.28529099G>ACA8459322FOXN1c.705G>A (p.Ser235=)
c.*1196-72990C>T (n.*1196-72990C>T)
c.762G>A (p.Ser254=)
c.759G>A (p.Ser253=)
c.741G>A (p.Ser247=)
c.708G>A (p.Ser236=)
c.240G>A (p.Ser80=)
c.162G>A (p.Ser54=)
c.147G>A (p.Ser49=)
c.69G>A (p.Ser23=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28529099G>CCA499088049FOXN1c.705G>C (p.Ser235=)
c.*1196-72990C>G (n.*1196-72990C>G)
c.762G>C (p.Ser254=)
c.759G>C (p.Ser253=)
c.741G>C (p.Ser247=)
c.708G>C (p.Ser236=)
c.240G>C (p.Ser80=)
c.162G>C (p.Ser54=)
c.147G>C (p.Ser49=)
c.69G>C (p.Ser23=)
17g.28529099G=CA2254345664FOXN1c.705G= (p.Ser235=)
c.*1196-72990C= (n.*1196-72990C=)
c.762G= (p.Ser254=)
c.759G= (p.Ser253=)
c.741G= (p.Ser247=)
c.708G= (p.Ser236=)
c.240G= (p.Ser80=)
c.162G= (p.Ser54=)
c.147G= (p.Ser49=)
c.69G= (p.Ser23=)
17g.28529099G>TCA499088050FOXN1c.705G>T (p.Ser235=)
c.*1196-72990C>A (n.*1196-72990C>A)
c.762G>T (p.Ser254=)
c.759G>T (p.Ser253=)
c.741G>T (p.Ser247=)
c.708G>T (p.Ser236=)
c.240G>T (p.Ser80=)
c.162G>T (p.Ser54=)
c.147G>T (p.Ser49=)
c.69G>T (p.Ser23=)
dbSNP gnomAD v4
17g.28529100C>ACA398322932FOXN1c.706C>A (p.Pro236Thr)
c.*1196-72991G>T (n.*1196-72991G>T)
c.763C>A (p.Pro255Thr)
c.760C>A (p.Pro254Thr)
c.742C>A (p.Pro248Thr)
c.709C>A (p.Pro237Thr)
c.241C>A (p.Pro81Thr)
c.163C>A (p.Pro55Thr)
c.148C>A (p.Pro50Thr)
c.70C>A (p.Pro24Thr)
17g.28529100C=CA2254345665FOXN1c.706C= (p.Pro236=)
c.*1196-72991G= (n.*1196-72991G=)
c.763C= (p.Pro255=)
c.760C= (p.Pro254=)
c.742C= (p.Pro248=)
c.709C= (p.Pro237=)
c.241C= (p.Pro81=)
c.163C= (p.Pro55=)
c.148C= (p.Pro50=)
c.70C= (p.Pro24=)
17g.28529100C>GCA398322936FOXN1c.706C>G (p.Pro236Ala)
c.*1196-72991G>C (n.*1196-72991G>C)
c.763C>G (p.Pro255Ala)
c.760C>G (p.Pro254Ala)
c.742C>G (p.Pro248Ala)
c.709C>G (p.Pro237Ala)
c.241C>G (p.Pro81Ala)
c.163C>G (p.Pro55Ala)
c.148C>G (p.Pro50Ala)
c.70C>G (p.Pro24Ala)
17g.28529100C>TCA398322934FOXN1c.706C>T (p.Pro236Ser)
c.*1196-72991G>A (n.*1196-72991G>A)
c.763C>T (p.Pro255Ser)
c.760C>T (p.Pro254Ser)
c.742C>T (p.Pro248Ser)
c.709C>T (p.Pro237Ser)
c.241C>T (p.Pro81Ser)
c.163C>T (p.Pro55Ser)
c.148C>T (p.Pro50Ser)
c.70C>T (p.Pro24Ser)
dbSNP
17g.28529101C>ACA398322938FOXN1c.707C>A (p.Pro236Gln)
c.*1196-72992G>T (n.*1196-72992G>T)
c.764C>A (p.Pro255Gln)
c.761C>A (p.Pro254Gln)
c.743C>A (p.Pro248Gln)
c.710C>A (p.Pro237Gln)
c.242C>A (p.Pro81Gln)
c.164C>A (p.Pro55Gln)
c.149C>A (p.Pro50Gln)
c.71C>A (p.Pro24Gln)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.28529101C=CA2254345666FOXN1c.707C= (p.Pro236=)
c.*1196-72992G= (n.*1196-72992G=)
c.764C= (p.Pro255=)
c.761C= (p.Pro254=)
c.743C= (p.Pro248=)
c.710C= (p.Pro237=)
c.242C= (p.Pro81=)
c.164C= (p.Pro55=)
c.149C= (p.Pro50=)
c.71C= (p.Pro24=)
17g.28529101C>GCA398322941FOXN1c.707C>G (p.Pro236Arg)
c.*1196-72992G>C (n.*1196-72992G>C)
c.764C>G (p.Pro255Arg)
c.761C>G (p.Pro254Arg)
c.743C>G (p.Pro248Arg)
c.710C>G (p.Pro237Arg)
c.242C>G (p.Pro81Arg)
c.164C>G (p.Pro55Arg)
c.149C>G (p.Pro50Arg)
c.71C>G (p.Pro24Arg)
17g.28529101C>TCA398322939FOXN1c.707C>T (p.Pro236Leu)
c.*1196-72992G>A (n.*1196-72992G>A)
c.764C>T (p.Pro255Leu)
c.761C>T (p.Pro254Leu)
c.743C>T (p.Pro248Leu)
c.710C>T (p.Pro237Leu)
c.242C>T (p.Pro81Leu)
c.164C>T (p.Pro55Leu)
c.149C>T (p.Pro50Leu)
c.71C>T (p.Pro24Leu)
17g.28529102A>CCA499088054FOXN1c.708A>C (p.Pro236=)
c.*1196-72993T>G (n.*1196-72993T>G)
c.765A>C (p.Pro255=)
c.762A>C (p.Pro254=)
c.744A>C (p.Pro248=)
c.711A>C (p.Pro237=)
c.243A>C (p.Pro81=)
c.165A>C (p.Pro55=)
c.150A>C (p.Pro50=)
c.72A>C (p.Pro24=)
17g.28529102A>GCA499088056FOXN1c.708A>G (p.Pro236=)
c.*1196-72993T>C (n.*1196-72993T>C)
c.765A>G (p.Pro255=)
c.762A>G (p.Pro254=)
c.744A>G (p.Pro248=)
c.711A>G (p.Pro237=)
c.243A>G (p.Pro81=)
c.165A>G (p.Pro55=)
c.150A>G (p.Pro50=)
c.72A>G (p.Pro24=)
gnomAD v4
17g.28529102A>TCA499088055FOXN1c.708A>T (p.Pro236=)
c.*1196-72993T>A (n.*1196-72993T>A)
c.765A>T (p.Pro255=)
c.762A>T (p.Pro254=)
c.744A>T (p.Pro248=)
c.711A>T (p.Pro237=)
c.243A>T (p.Pro81=)
c.165A>T (p.Pro55=)
c.150A>T (p.Pro50=)
c.72A>T (p.Pro24=)
17g.28529103G>ACA8459323FOXN1c.709G>A (p.Gly237Ser)
c.*1196-72994C>T (n.*1196-72994C>T)
c.766G>A (p.Gly256Ser)
c.763G>A (p.Gly255Ser)
c.745G>A (p.Gly249Ser)
c.712G>A (p.Gly238Ser)
c.244G>A (p.Gly82Ser)
c.166G>A (p.Gly56Ser)
c.151G>A (p.Gly51Ser)
c.73G>A (p.Gly25Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28529103G>CCA398322944FOXN1c.709G>C (p.Gly237Arg)
c.*1196-72994C>G (n.*1196-72994C>G)
c.766G>C (p.Gly256Arg)
c.763G>C (p.Gly255Arg)
c.745G>C (p.Gly249Arg)
c.712G>C (p.Gly238Arg)
c.244G>C (p.Gly82Arg)
c.166G>C (p.Gly56Arg)
c.151G>C (p.Gly51Arg)
c.73G>C (p.Gly25Arg)
gnomAD v4
17g.28529103G=CA2254345667FOXN1c.709G= (p.Gly237=)
c.*1196-72994C= (n.*1196-72994C=)
c.766G= (p.Gly256=)
c.763G= (p.Gly255=)
c.745G= (p.Gly249=)
c.712G= (p.Gly238=)
c.244G= (p.Gly82=)
c.166G= (p.Gly56=)
c.151G= (p.Gly51=)
c.73G= (p.Gly25=)
17g.28529103G>TCA398322945FOXN1c.709G>T (p.Gly237Cys)
c.*1196-72994C>A (n.*1196-72994C>A)
c.766G>T (p.Gly256Cys)
c.763G>T (p.Gly255Cys)
c.745G>T (p.Gly249Cys)
c.712G>T (p.Gly238Cys)
c.244G>T (p.Gly82Cys)
c.166G>T (p.Gly56Cys)
c.151G>T (p.Gly51Cys)
c.73G>T (p.Gly25Cys)
17g.28529104G>ACA398322946FOXN1c.710G>A (p.Gly237Asp)
c.*1196-72995C>T (n.*1196-72995C>T)
c.767G>A (p.Gly256Asp)
c.764G>A (p.Gly255Asp)
c.746G>A (p.Gly249Asp)
c.713G>A (p.Gly238Asp)
c.245G>A (p.Gly82Asp)
c.167G>A (p.Gly56Asp)
c.152G>A (p.Gly51Asp)
c.74G>A (p.Gly25Asp)
17g.28529104G>CCA398322947FOXN1c.710G>C (p.Gly237Ala)
c.*1196-72995C>G (n.*1196-72995C>G)
c.767G>C (p.Gly256Ala)
c.764G>C (p.Gly255Ala)
c.746G>C (p.Gly249Ala)
c.713G>C (p.Gly238Ala)
c.245G>C (p.Gly82Ala)
c.167G>C (p.Gly56Ala)
c.152G>C (p.Gly51Ala)
c.74G>C (p.Gly25Ala)
gnomAD v4
17g.28529104G>TCA398322949FOXN1c.710G>T (p.Gly237Val)
c.*1196-72995C>A (n.*1196-72995C>A)
c.767G>T (p.Gly256Val)
c.764G>T (p.Gly255Val)
c.746G>T (p.Gly249Val)
c.713G>T (p.Gly238Val)
c.245G>T (p.Gly82Val)
c.167G>T (p.Gly56Val)
c.152G>T (p.Gly51Val)
c.74G>T (p.Gly25Val)
17g.28529105T>ACA499088057FOXN1c.711T>A (p.Gly237=)
c.*1196-72996A>T (n.*1196-72996A>T)
c.768T>A (p.Gly256=)
c.765T>A (p.Gly255=)
c.747T>A (p.Gly249=)
c.714T>A (p.Gly238=)
c.246T>A (p.Gly82=)
c.168T>A (p.Gly56=)
c.153T>A (p.Gly51=)
c.75T>A (p.Gly25=)
17g.28529105T>CCA499088058FOXN1c.711T>C (p.Gly237=)
c.*1196-72996A>G (n.*1196-72996A>G)
c.768T>C (p.Gly256=)
c.765T>C (p.Gly255=)
c.747T>C (p.Gly249=)
c.714T>C (p.Gly238=)
c.246T>C (p.Gly82=)
c.168T>C (p.Gly56=)
c.153T>C (p.Gly51=)
c.75T>C (p.Gly25=)
gnomAD v4
17g.28529105T>GCA499088060FOXN1c.711T>G (p.Gly237=)
c.*1196-72996A>C (n.*1196-72996A>C)
c.768T>G (p.Gly256=)
c.765T>G (p.Gly255=)
c.747T>G (p.Gly249=)
c.714T>G (p.Gly238=)
c.246T>G (p.Gly82=)
c.168T>G (p.Gly56=)
c.153T>G (p.Gly51=)
c.75T>G (p.Gly25=)
17g.28529106G>ACA398322951FOXN1c.712G>A (p.Gly238Ser)
c.*1196-72997C>T (n.*1196-72997C>T)
c.769G>A (p.Gly257Ser)
c.766G>A (p.Gly256Ser)
c.748G>A (p.Gly250Ser)
c.715G>A (p.Gly239Ser)
c.247G>A (p.Gly83Ser)
c.169G>A (p.Gly57Ser)
c.154G>A (p.Gly52Ser)
c.76G>A (p.Gly26Ser)
gnomAD v4 COSMIC
17g.28529106G>CCA398322953FOXN1c.712G>C (p.Gly238Arg)
c.*1196-72997C>G (n.*1196-72997C>G)
c.769G>C (p.Gly257Arg)
c.766G>C (p.Gly256Arg)
c.748G>C (p.Gly250Arg)
c.715G>C (p.Gly239Arg)
c.247G>C (p.Gly83Arg)
c.169G>C (p.Gly57Arg)
c.154G>C (p.Gly52Arg)
c.76G>C (p.Gly26Arg)
17g.28529106G>TCA398322954FOXN1c.712G>T (p.Gly238Cys)
c.*1196-72997C>A (n.*1196-72997C>A)
c.769G>T (p.Gly257Cys)
c.766G>T (p.Gly256Cys)
c.748G>T (p.Gly250Cys)
c.715G>T (p.Gly239Cys)
c.247G>T (p.Gly83Cys)
c.169G>T (p.Gly57Cys)
c.154G>T (p.Gly52Cys)
c.76G>T (p.Gly26Cys)
17g.28529107G>ACA8459324FOXN1c.713G>A (p.Gly238Asp)
c.*1196-72998C>T (n.*1196-72998C>T)
c.770G>A (p.Gly257Asp)
c.767G>A (p.Gly256Asp)
c.749G>A (p.Gly250Asp)
c.716G>A (p.Gly239Asp)
c.248G>A (p.Gly83Asp)
c.170G>A (p.Gly57Asp)
c.155G>A (p.Gly52Asp)
c.77G>A (p.Gly26Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28529107G>CCA398322956FOXN1c.713G>C (p.Gly238Ala)
c.*1196-72998C>G (n.*1196-72998C>G)
c.770G>C (p.Gly257Ala)
c.767G>C (p.Gly256Ala)
c.749G>C (p.Gly250Ala)
c.716G>C (p.Gly239Ala)
c.248G>C (p.Gly83Ala)
c.170G>C (p.Gly57Ala)
c.155G>C (p.Gly52Ala)
c.77G>C (p.Gly26Ala)
17g.28529107G=CA2254345668FOXN1c.713G= (p.Gly238=)
c.*1196-72998C= (n.*1196-72998C=)
c.770G= (p.Gly257=)
c.767G= (p.Gly256=)
c.749G= (p.Gly250=)
c.716G= (p.Gly239=)
c.248G= (p.Gly83=)
c.170G= (p.Gly57=)
c.155G= (p.Gly52=)
c.77G= (p.Gly26=)
17g.28529107G>TCA398322957FOXN1c.713G>T (p.Gly238Val)
c.*1196-72998C>A (n.*1196-72998C>A)
c.770G>T (p.Gly257Val)
c.767G>T (p.Gly256Val)
c.749G>T (p.Gly250Val)
c.716G>T (p.Gly239Val)
c.248G>T (p.Gly83Val)
c.170G>T (p.Gly57Val)
c.155G>T (p.Gly52Val)
c.77G>T (p.Gly26Val)
17g.28529108T>ACA499088064FOXN1c.714T>A (p.Gly238=)
c.*1196-72999A>T (n.*1196-72999A>T)
c.771T>A (p.Gly257=)
c.768T>A (p.Gly256=)
c.750T>A (p.Gly250=)
c.717T>A (p.Gly239=)
c.249T>A (p.Gly83=)
c.171T>A (p.Gly57=)
c.156T>A (p.Gly52=)
c.78T>A (p.Gly26=)
17g.28529108T>CCA8459325FOXN1c.714T>C (p.Gly238=)
c.*1196-72999A>G (n.*1196-72999A>G)
c.771T>C (p.Gly257=)
c.768T>C (p.Gly256=)
c.750T>C (p.Gly250=)
c.717T>C (p.Gly239=)
c.249T>C (p.Gly83=)
c.171T>C (p.Gly57=)
c.156T>C (p.Gly52=)
c.78T>C (p.Gly26=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28529108T>GCA499088065FOXN1c.714T>G (p.Gly238=)
c.*1196-72999A>C (n.*1196-72999A>C)
c.771T>G (p.Gly257=)
c.768T>G (p.Gly256=)
c.750T>G (p.Gly250=)
c.717T>G (p.Gly239=)
c.249T>G (p.Gly83=)
c.171T>G (p.Gly57=)
c.156T>G (p.Gly52=)
c.78T>G (p.Gly26=)
17g.28529108T=CA2254345669FOXN1c.714T= (p.Gly238=)
c.*1196-72999A= (n.*1196-72999A=)
c.771T= (p.Gly257=)
c.768T= (p.Gly256=)
c.750T= (p.Gly250=)
c.717T= (p.Gly239=)
c.249T= (p.Gly83=)
c.171T= (p.Gly57=)
c.156T= (p.Gly52=)
c.78T= (p.Gly26=)
17g.28529109G>ACA398322960FOXN1c.715G>A (p.Gly239Ser)
c.*1196-73000C>T (n.*1196-73000C>T)
c.772G>A (p.Gly258Ser)
c.769G>A (p.Gly257Ser)
c.751G>A (p.Gly251Ser)
c.718G>A (p.Gly240Ser)
c.250G>A (p.Gly84Ser)
c.172G>A (p.Gly58Ser)
c.157G>A (p.Gly53Ser)
c.79G>A (p.Gly27Ser)
dbSNP gnomAD v3 gnomAD v4
17g.28529109G>CCA398322961FOXN1c.715G>C (p.Gly239Arg)
c.*1196-73000C>G (n.*1196-73000C>G)
c.772G>C (p.Gly258Arg)
c.769G>C (p.Gly257Arg)
c.751G>C (p.Gly251Arg)
c.718G>C (p.Gly240Arg)
c.250G>C (p.Gly84Arg)
c.172G>C (p.Gly58Arg)
c.157G>C (p.Gly53Arg)
c.79G>C (p.Gly27Arg)
17g.28529109G=CA2254345670FOXN1c.715G= (p.Gly239=)
c.*1196-73000C= (n.*1196-73000C=)
c.772G= (p.Gly258=)
c.769G= (p.Gly257=)
c.751G= (p.Gly251=)
c.718G= (p.Gly240=)
c.250G= (p.Gly84=)
c.172G= (p.Gly58=)
c.157G= (p.Gly53=)
c.79G= (p.Gly27=)
17g.28529109G>TCA398322964FOXN1c.715G>T (p.Gly239Cys)
c.*1196-73000C>A (n.*1196-73000C>A)
c.772G>T (p.Gly258Cys)
c.769G>T (p.Gly257Cys)
c.751G>T (p.Gly251Cys)
c.718G>T (p.Gly240Cys)
c.250G>T (p.Gly84Cys)
c.172G>T (p.Gly58Cys)
c.157G>T (p.Gly53Cys)
c.79G>T (p.Gly27Cys)
17g.28529110G>ACA8459326FOXN1c.716G>A (p.Gly239Asp)
c.*1196-73001C>T (n.*1196-73001C>T)
c.773G>A (p.Gly258Asp)
c.770G>A (p.Gly257Asp)
c.752G>A (p.Gly251Asp)
c.719G>A (p.Gly240Asp)
c.251G>A (p.Gly84Asp)
c.173G>A (p.Gly58Asp)
c.158G>A (p.Gly53Asp)
c.80G>A (p.Gly27Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28529110G>CCA398322966FOXN1c.716G>C (p.Gly239Ala)
c.*1196-73001C>G (n.*1196-73001C>G)
c.773G>C (p.Gly258Ala)
c.770G>C (p.Gly257Ala)
c.752G>C (p.Gly251Ala)
c.719G>C (p.Gly240Ala)
c.251G>C (p.Gly84Ala)
c.173G>C (p.Gly58Ala)
c.158G>C (p.Gly53Ala)
c.80G>C (p.Gly27Ala)
17g.28529110G=CA2254345671FOXN1c.716G= (p.Gly239=)
c.*1196-73001C= (n.*1196-73001C=)
c.773G= (p.Gly258=)
c.770G= (p.Gly257=)
c.752G= (p.Gly251=)
c.719G= (p.Gly240=)
c.251G= (p.Gly84=)
c.173G= (p.Gly58=)
c.158G= (p.Gly53=)
c.80G= (p.Gly27=)
17g.28529110G>TCA398322968FOXN1c.716G>T (p.Gly239Val)
c.*1196-73001C>A (n.*1196-73001C>A)
c.773G>T (p.Gly258Val)
c.770G>T (p.Gly257Val)
c.752G>T (p.Gly251Val)
c.719G>T (p.Gly240Val)
c.251G>T (p.Gly84Val)
c.173G>T (p.Gly58Val)
c.158G>T (p.Gly53Val)
c.80G>T (p.Gly27Val)
17g.28529111C>ACA499088066FOXN1c.717C>A (p.Gly239=)
c.*1196-73002G>T (n.*1196-73002G>T)
c.774C>A (p.Gly258=)
c.771C>A (p.Gly257=)
c.753C>A (p.Gly251=)
c.720C>A (p.Gly240=)
c.252C>A (p.Gly84=)
c.174C>A (p.Gly58=)
c.159C>A (p.Gly53=)
c.81C>A (p.Gly27=)
17g.28529111C>GCA499088067FOXN1c.717C>G (p.Gly239=)
c.*1196-73002G>C (n.*1196-73002G>C)
c.774C>G (p.Gly258=)
c.771C>G (p.Gly257=)
c.753C>G (p.Gly251=)
c.720C>G (p.Gly240=)
c.252C>G (p.Gly84=)
c.174C>G (p.Gly58=)
c.159C>G (p.Gly53=)
c.81C>G (p.Gly27=)
17g.28529111C>TCA499088068FOXN1c.717C>T (p.Gly239=)
c.*1196-73002G>A (n.*1196-73002G>A)
c.774C>T (p.Gly258=)
c.771C>T (p.Gly257=)
c.753C>T (p.Gly251=)
c.720C>T (p.Gly240=)
c.252C>T (p.Gly84=)
c.174C>T (p.Gly58=)
c.159C>T (p.Gly53=)
c.81C>T (p.Gly27=)
17g.28529112A>CCA398322970FOXN1c.718A>C (p.Ser240Arg)
c.*1196-73003T>G (n.*1196-73003T>G)
c.775A>C (p.Ser259Arg)
c.772A>C (p.Ser258Arg)
c.754A>C (p.Ser252Arg)
c.721A>C (p.Ser241Arg)
c.253A>C (p.Ser85Arg)
c.175A>C (p.Ser59Arg)
c.160A>C (p.Ser54Arg)
c.82A>C (p.Ser28Arg)
17g.28529112A>GCA398322971FOXN1c.718A>G (p.Ser240Gly)
c.*1196-73003T>C (n.*1196-73003T>C)
c.775A>G (p.Ser259Gly)
c.772A>G (p.Ser258Gly)
c.754A>G (p.Ser252Gly)
c.721A>G (p.Ser241Gly)
c.253A>G (p.Ser85Gly)
c.175A>G (p.Ser59Gly)
c.160A>G (p.Ser54Gly)
c.82A>G (p.Ser28Gly)
17g.28529112A>TCA398322972FOXN1c.718A>T (p.Ser240Cys)
c.*1196-73003T>A (n.*1196-73003T>A)
c.775A>T (p.Ser259Cys)
c.772A>T (p.Ser258Cys)
c.754A>T (p.Ser252Cys)
c.721A>T (p.Ser241Cys)
c.253A>T (p.Ser85Cys)
c.175A>T (p.Ser59Cys)
c.160A>T (p.Ser54Cys)
c.82A>T (p.Ser28Cys)
17g.28529113G>ACA398322974FOXN1c.719G>A (p.Ser240Asn)
c.*1196-73004C>T (n.*1196-73004C>T)
c.776G>A (p.Ser259Asn)
c.773G>A (p.Ser258Asn)
c.755G>A (p.Ser252Asn)
c.722G>A (p.Ser241Asn)
c.254G>A (p.Ser85Asn)
c.176G>A (p.Ser59Asn)
c.161G>A (p.Ser54Asn)
c.83G>A (p.Ser28Asn)
17g.28529113G>CCA398322976FOXN1c.719G>C (p.Ser240Thr)
c.*1196-73004C>G (n.*1196-73004C>G)
c.776G>C (p.Ser259Thr)
c.773G>C (p.Ser258Thr)
c.755G>C (p.Ser252Thr)
c.722G>C (p.Ser241Thr)
c.254G>C (p.Ser85Thr)
c.176G>C (p.Ser59Thr)
c.161G>C (p.Ser54Thr)
c.83G>C (p.Ser28Thr)
17g.28529113G>TCA398322978FOXN1c.719G>T (p.Ser240Ile)
c.*1196-73004C>A (n.*1196-73004C>A)
c.776G>T (p.Ser259Ile)
c.773G>T (p.Ser258Ile)
c.755G>T (p.Ser252Ile)
c.722G>T (p.Ser241Ile)
c.254G>T (p.Ser85Ile)
c.176G>T (p.Ser59Ile)
c.161G>T (p.Ser54Ile)
c.83G>T (p.Ser28Ile)
17g.28529114C>ACA398322980FOXN1c.720C>A (p.Ser240Arg)
c.*1196-73005G>T (n.*1196-73005G>T)
c.777C>A (p.Ser259Arg)
c.774C>A (p.Ser258Arg)
c.756C>A (p.Ser252Arg)
c.723C>A (p.Ser241Arg)
c.255C>A (p.Ser85Arg)
c.177C>A (p.Ser59Arg)
c.162C>A (p.Ser54Arg)
c.84C>A (p.Ser28Arg)
gnomAD v4
17g.28529114C>GCA398322979FOXN1c.720C>G (p.Ser240Arg)
c.*1196-73005G>C (n.*1196-73005G>C)
c.777C>G (p.Ser259Arg)
c.774C>G (p.Ser258Arg)
c.756C>G (p.Ser252Arg)
c.723C>G (p.Ser241Arg)
c.255C>G (p.Ser85Arg)
c.177C>G (p.Ser59Arg)
c.162C>G (p.Ser54Arg)
c.84C>G (p.Ser28Arg)
17g.28529114C>TCA499088071FOXN1c.720C>T (p.Ser240=)
c.*1196-73005G>A (n.*1196-73005G>A)
c.777C>T (p.Ser259=)
c.774C>T (p.Ser258=)
c.756C>T (p.Ser252=)
c.723C>T (p.Ser241=)
c.255C>T (p.Ser85=)
c.177C>T (p.Ser59=)
c.162C>T (p.Ser54=)
c.84C>T (p.Ser28=)
17g.28529115T>ACA398322981FOXN1c.721T>A (p.Tyr241Asn)
c.*1196-73006A>T (n.*1196-73006A>T)
c.778T>A (p.Tyr260Asn)
c.775T>A (p.Tyr259Asn)
c.757T>A (p.Tyr253Asn)
c.724T>A (p.Tyr242Asn)
c.256T>A (p.Tyr86Asn)
c.178T>A (p.Tyr60Asn)
c.163T>A (p.Tyr55Asn)
c.85T>A (p.Tyr29Asn)
17g.28529115T>CCA8459327FOXN1c.721T>C (p.Tyr241His)
c.*1196-73006A>G (n.*1196-73006A>G)
c.778T>C (p.Tyr260His)
c.775T>C (p.Tyr259His)
c.757T>C (p.Tyr253His)
c.724T>C (p.Tyr242His)
c.256T>C (p.Tyr86His)
c.178T>C (p.Tyr60His)
c.163T>C (p.Tyr55His)
c.85T>C (p.Tyr29His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28529115T>GCA398322982FOXN1c.721T>G (p.Tyr241Asp)
c.*1196-73006A>C (n.*1196-73006A>C)
c.778T>G (p.Tyr260Asp)
c.775T>G (p.Tyr259Asp)
c.757T>G (p.Tyr253Asp)
c.724T>G (p.Tyr242Asp)
c.256T>G (p.Tyr86Asp)
c.178T>G (p.Tyr60Asp)
c.163T>G (p.Tyr55Asp)
c.85T>G (p.Tyr29Asp)
17g.28529115T=CA2254345672FOXN1c.721T= (p.Tyr241=)
c.*1196-73006A= (n.*1196-73006A=)
c.778T= (p.Tyr260=)
c.775T= (p.Tyr259=)
c.757T= (p.Tyr253=)
c.724T= (p.Tyr242=)
c.256T= (p.Tyr86=)
c.178T= (p.Tyr60=)
c.163T= (p.Tyr55=)
c.85T= (p.Tyr29=)
17g.28529116A=CA2254345673FOXN1c.722A= (p.Tyr241=)
c.*1196-73007T= (n.*1196-73007T=)
c.779A= (p.Tyr260=)
c.776A= (p.Tyr259=)
c.758A= (p.Tyr253=)
c.725A= (p.Tyr242=)
c.257A= (p.Tyr86=)
c.179A= (p.Tyr60=)
c.164A= (p.Tyr55=)
c.86A= (p.Tyr29=)
17g.28529116A>CCA398322985FOXN1c.722A>C (p.Tyr241Ser)
c.*1196-73007T>G (n.*1196-73007T>G)
c.779A>C (p.Tyr260Ser)
c.776A>C (p.Tyr259Ser)
c.758A>C (p.Tyr253Ser)
c.725A>C (p.Tyr242Ser)
c.257A>C (p.Tyr86Ser)
c.179A>C (p.Tyr60Ser)
c.164A>C (p.Tyr55Ser)
c.86A>C (p.Tyr29Ser)
17g.28529116A>GCA398322986FOXN1c.722A>G (p.Tyr241Cys)
c.*1196-73007T>C (n.*1196-73007T>C)
c.779A>G (p.Tyr260Cys)
c.776A>G (p.Tyr259Cys)
c.758A>G (p.Tyr253Cys)
c.725A>G (p.Tyr242Cys)
c.257A>G (p.Tyr86Cys)
c.179A>G (p.Tyr60Cys)
c.164A>G (p.Tyr55Cys)
c.86A>G (p.Tyr29Cys)
dbSNP gnomAD v2 gnomAD v4
17g.28529116A>TCA398322988FOXN1c.722A>T (p.Tyr241Phe)
c.*1196-73007T>A (n.*1196-73007T>A)
c.779A>T (p.Tyr260Phe)
c.776A>T (p.Tyr259Phe)
c.758A>T (p.Tyr253Phe)
c.725A>T (p.Tyr242Phe)
c.257A>T (p.Tyr86Phe)
c.179A>T (p.Tyr60Phe)
c.164A>T (p.Tyr55Phe)
c.86A>T (p.Tyr29Phe)
17g.28529117C>ACA398322991FOXN1c.723C>A (p.Tyr241Ter)
c.*1196-73008G>T (n.*1196-73008G>T)
c.780C>A (p.Tyr260Ter)
c.777C>A (p.Tyr259Ter)
c.759C>A (p.Tyr253Ter)
c.726C>A (p.Tyr242Ter)
c.258C>A (p.Tyr86Ter)
c.180C>A (p.Tyr60Ter)
c.165C>A (p.Tyr55Ter)
c.87C>A (p.Tyr29Ter)
ClinVar dbSNP
17g.28529117C>GCA398322989FOXN1c.723C>G (p.Tyr241Ter)
c.*1196-73008G>C (n.*1196-73008G>C)
c.780C>G (p.Tyr260Ter)
c.777C>G (p.Tyr259Ter)
c.759C>G (p.Tyr253Ter)
c.726C>G (p.Tyr242Ter)
c.258C>G (p.Tyr86Ter)
c.180C>G (p.Tyr60Ter)
c.165C>G (p.Tyr55Ter)
c.87C>G (p.Tyr29Ter)
ClinVar dbSNP
17g.28529117C>TCA499088076FOXN1c.723C>T (p.Tyr241=)
c.*1196-73008G>A (n.*1196-73008G>A)
c.780C>T (p.Tyr260=)
c.777C>T (p.Tyr259=)
c.759C>T (p.Tyr253=)
c.726C>T (p.Tyr242=)
c.258C>T (p.Tyr86=)
c.180C>T (p.Tyr60=)
c.165C>T (p.Tyr55=)
c.87C>T (p.Tyr29=)
ClinVar gnomAD v4 COSMIC
17g.28529118C>ACA398322993FOXN1c.724C>A (p.Pro242Thr)
c.*1196-73009G>T (n.*1196-73009G>T)
c.781C>A (p.Pro261Thr)
c.778C>A (p.Pro260Thr)
c.760C>A (p.Pro254Thr)
c.727C>A (p.Pro243Thr)
c.259C>A (p.Pro87Thr)
c.181C>A (p.Pro61Thr)
c.166C>A (p.Pro56Thr)
c.88C>A (p.Pro30Thr)
17g.28529118C=CA2254345674FOXN1c.724C= (p.Pro242=)
c.*1196-73009G= (n.*1196-73009G=)
c.781C= (p.Pro261=)
c.778C= (p.Pro260=)
c.760C= (p.Pro254=)
c.727C= (p.Pro243=)
c.259C= (p.Pro87=)
c.181C= (p.Pro61=)
c.166C= (p.Pro56=)
c.88C= (p.Pro30=)
17g.28529118C>GCA398322995FOXN1c.724C>G (p.Pro242Ala)
c.*1196-73009G>C (n.*1196-73009G>C)
c.781C>G (p.Pro261Ala)
c.778C>G (p.Pro260Ala)
c.760C>G (p.Pro254Ala)
c.727C>G (p.Pro243Ala)
c.259C>G (p.Pro87Ala)
c.181C>G (p.Pro61Ala)
c.166C>G (p.Pro56Ala)
c.88C>G (p.Pro30Ala)
17g.28529118C>TCA8459328FOXN1c.724C>T (p.Pro242Ser)
c.*1196-73009G>A (n.*1196-73009G>A)
c.781C>T (p.Pro261Ser)
c.778C>T (p.Pro260Ser)
c.760C>T (p.Pro254Ser)
c.727C>T (p.Pro243Ser)
c.259C>T (p.Pro87Ser)
c.181C>T (p.Pro61Ser)
c.166C>T (p.Pro56Ser)
c.88C>T (p.Pro30Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28529119C>ACA398322996FOXN1c.725C>A (p.Pro242His)
c.*1196-73010G>T (n.*1196-73010G>T)
c.782C>A (p.Pro261His)
c.779C>A (p.Pro260His)
c.761C>A (p.Pro254His)
c.728C>A (p.Pro243His)
c.260C>A (p.Pro87His)
c.182C>A (p.Pro61His)
c.167C>A (p.Pro56His)
c.89C>A (p.Pro30His)
17g.28529119C=CA2254345675FOXN1c.725C= (p.Pro242=)
c.*1196-73010G= (n.*1196-73010G=)
c.782C= (p.Pro261=)
c.779C= (p.Pro260=)
c.761C= (p.Pro254=)
c.728C= (p.Pro243=)
c.260C= (p.Pro87=)
c.182C= (p.Pro61=)
c.167C= (p.Pro56=)
c.89C= (p.Pro30=)
17g.28529119C>GCA8459329FOXN1c.725C>G (p.Pro242Arg)
c.*1196-73010G>C (n.*1196-73010G>C)
c.782C>G (p.Pro261Arg)
c.779C>G (p.Pro260Arg)
c.761C>G (p.Pro254Arg)
c.728C>G (p.Pro243Arg)
c.260C>G (p.Pro87Arg)
c.182C>G (p.Pro61Arg)
c.167C>G (p.Pro56Arg)
c.89C>G (p.Pro30Arg)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.28529119C>TCA398322998FOXN1c.725C>T (p.Pro242Leu)
c.*1196-73010G>A (n.*1196-73010G>A)
c.782C>T (p.Pro261Leu)
c.779C>T (p.Pro260Leu)
c.761C>T (p.Pro254Leu)
c.728C>T (p.Pro243Leu)
c.260C>T (p.Pro87Leu)
c.182C>T (p.Pro61Leu)
c.167C>T (p.Pro56Leu)
c.89C>T (p.Pro30Leu)
17g.28529120C>ACA499088079FOXN1c.726C>A (p.Pro242=)
c.*1196-73011G>T (n.*1196-73011G>T)
c.783C>A (p.Pro261=)
c.780C>A (p.Pro260=)
c.762C>A (p.Pro254=)
c.729C>A (p.Pro243=)
c.261C>A (p.Pro87=)
c.183C>A (p.Pro61=)
c.168C>A (p.Pro56=)
c.90C>A (p.Pro30=)
17g.28529120C=CA2254345676FOXN1c.726C= (p.Pro242=)
c.*1196-73011G= (n.*1196-73011G=)
c.783C= (p.Pro261=)
c.780C= (p.Pro260=)
c.762C= (p.Pro254=)
c.729C= (p.Pro243=)
c.261C= (p.Pro87=)
c.183C= (p.Pro61=)
c.168C= (p.Pro56=)
c.90C= (p.Pro30=)
17g.28529120C>GCA499088080FOXN1c.726C>G (p.Pro242=)
c.*1196-73011G>C (n.*1196-73011G>C)
c.783C>G (p.Pro261=)
c.780C>G (p.Pro260=)
c.762C>G (p.Pro254=)
c.729C>G (p.Pro243=)
c.261C>G (p.Pro87=)
c.183C>G (p.Pro61=)
c.168C>G (p.Pro56=)
c.90C>G (p.Pro30=)
17g.28529120C>TCA499088081FOXN1c.726C>T (p.Pro242=)
c.*1196-73011G>A (n.*1196-73011G>A)
c.783C>T (p.Pro261=)
c.780C>T (p.Pro260=)
c.762C>T (p.Pro254=)
c.729C>T (p.Pro243=)
c.261C>T (p.Pro87=)
c.183C>T (p.Pro61=)
c.168C>T (p.Pro56=)
c.90C>T (p.Pro30=)
17g.28529121A>CCA398323000FOXN1c.727A>C (p.Ile243Leu)
c.*1196-73012T>G (n.*1196-73012T>G)
c.784A>C (p.Ile262Leu)
c.781A>C (p.Ile261Leu)
c.763A>C (p.Ile255Leu)
c.730A>C (p.Ile244Leu)
c.262A>C (p.Ile88Leu)
c.184A>C (p.Ile62Leu)
c.169A>C (p.Ile57Leu)
c.91A>C (p.Ile31Leu)
17g.28529121A>GCA398323003FOXN1c.727A>G (p.Ile243Val)
c.*1196-73012T>C (n.*1196-73012T>C)
c.784A>G (p.Ile262Val)
c.781A>G (p.Ile261Val)
c.763A>G (p.Ile255Val)
c.730A>G (p.Ile244Val)
c.262A>G (p.Ile88Val)
c.184A>G (p.Ile62Val)
c.169A>G (p.Ile57Val)
c.91A>G (p.Ile31Val)
17g.28529121A>TCA398323001FOXN1c.727A>T (p.Ile243Leu)
c.*1196-73012T>A (n.*1196-73012T>A)
c.784A>T (p.Ile262Leu)
c.781A>T (p.Ile261Leu)
c.763A>T (p.Ile255Leu)
c.730A>T (p.Ile244Leu)
c.262A>T (p.Ile88Leu)
c.184A>T (p.Ile62Leu)
c.169A>T (p.Ile57Leu)
c.91A>T (p.Ile31Leu)
17g.28529122_28529123dupCA915949636FOXN1c.728_729dup (p.Pro244TyrfsTer?)
c.*1196-73013_*1196-73012dup (n.*1196-73013_*1196-73012dup)
c.785_786dup (p.Pro263TyrfsTer?)
c.782_783dup (p.Pro262TyrfsTer?)
c.764_765dup (p.Pro256TyrfsTer?)
c.731_732dup (p.Pro245TyrfsTer?)
c.263_264dup (p.Pro89TyrfsTer?)
c.185_186dup (p.Pro63TyrfsTer?)
c.170_171dup (p.Pro58TyrfsTer?)
c.92_93dup (p.Pro32TyrfsTer?)
ClinVar dbSNP
17g.28529121_28529130delinsATACCCTACCCA2254345677FOXN1c.727_736delinsATACCCTACC (p.Ile243=)
c.*1196-73021_*1196-73012delinsGGTAGGGTAT (n.*1196-73021_*1196-73012delinsGGTAGGGTAT)
c.784_793delinsATACCCTACC (p.Ile262=)
c.781_790delinsATACCCTACC (p.Ile261=)
c.763_772delinsATACCCTACC (p.Ile255=)
c.730_739delinsATACCCTACC (p.Ile244=)
c.262_271delinsATACCCTACC (p.Ile88=)
c.184_193delinsATACCCTACC (p.Ile62=)
c.169_178delinsATACCCTACC (p.Ile57=)
c.91_100delinsATACCCTACC (p.Ile31=)
17g.28529122T>ACA398323005FOXN1c.728T>A (p.Ile243Lys)
c.*1196-73013A>T (n.*1196-73013A>T)
c.785T>A (p.Ile262Lys)
c.782T>A (p.Ile261Lys)
c.764T>A (p.Ile255Lys)
c.731T>A (p.Ile244Lys)
c.263T>A (p.Ile88Lys)
c.185T>A (p.Ile62Lys)
c.170T>A (p.Ile57Lys)
c.92T>A (p.Ile31Lys)
17g.28529122T>CCA398323007FOXN1c.728T>C (p.Ile243Thr)
c.*1196-73013A>G (n.*1196-73013A>G)
c.785T>C (p.Ile262Thr)
c.782T>C (p.Ile261Thr)
c.764T>C (p.Ile255Thr)
c.731T>C (p.Ile244Thr)
c.263T>C (p.Ile88Thr)
c.185T>C (p.Ile62Thr)
c.170T>C (p.Ile57Thr)
c.92T>C (p.Ile31Thr)
dbSNP gnomAD v3 gnomAD v4
17g.28529122T>GCA398323009FOXN1c.728T>G (p.Ile243Arg)
c.*1196-73013A>C (n.*1196-73013A>C)
c.785T>G (p.Ile262Arg)
c.782T>G (p.Ile261Arg)
c.764T>G (p.Ile255Arg)
c.731T>G (p.Ile244Arg)
c.263T>G (p.Ile88Arg)
c.185T>G (p.Ile62Arg)
c.170T>G (p.Ile57Arg)
c.92T>G (p.Ile31Arg)
17g.28529122T=CA2254345678FOXN1c.728T= (p.Ile243=)
c.*1196-73013A= (n.*1196-73013A=)
c.785T= (p.Ile262=)
c.782T= (p.Ile261=)
c.764T= (p.Ile255=)
c.731T= (p.Ile244=)
c.263T= (p.Ile88=)
c.185T= (p.Ile62=)
c.170T= (p.Ile57=)
c.92T= (p.Ile31=)
17g.28529123_28529131delCA8459330FOXN1c.729_737del (p.Ile243_Leu246delinsMet)
c.*1196-73021_*1196-73013del (n.*1196-73021_*1196-73013del)
c.786_794del (p.Ile262_Leu265delinsMet)
c.783_791del (p.Ile261_Leu264delinsMet)
c.765_773del (p.Ile255_Leu258delinsMet)
c.732_740del (p.Ile244_Leu247delinsMet)
c.264_272del (p.Ile88_Leu91delinsMet)
c.186_194del (p.Ile62_Leu65delinsMet)
c.171_179del (p.Ile57_Leu60delinsMet)
c.93_101del (p.Ile31_Leu34delinsMet)
ClinVar dbSNP ExAC gnomAD v4
17g.28529123A>CCA499088084FOXN1c.729A>C (p.Ile243=)
c.*1196-73014T>G (n.*1196-73014T>G)
c.786A>C (p.Ile262=)
c.783A>C (p.Ile261=)
c.765A>C (p.Ile255=)
c.732A>C (p.Ile244=)
c.264A>C (p.Ile88=)
c.186A>C (p.Ile62=)
c.171A>C (p.Ile57=)
c.93A>C (p.Ile31=)
17g.28529123A>GCA398323011FOXN1c.729A>G (p.Ile243Met)
c.*1196-73014T>C (n.*1196-73014T>C)
c.786A>G (p.Ile262Met)
c.783A>G (p.Ile261Met)
c.765A>G (p.Ile255Met)
c.732A>G (p.Ile244Met)
c.264A>G (p.Ile88Met)
c.186A>G (p.Ile62Met)
c.171A>G (p.Ile57Met)
c.93A>G (p.Ile31Met)
17g.28529123A>TCA499088083FOXN1c.729A>T (p.Ile243=)
c.*1196-73014T>A (n.*1196-73014T>A)
c.786A>T (p.Ile262=)
c.783A>T (p.Ile261=)
c.765A>T (p.Ile255=)
c.732A>T (p.Ile244=)
c.264A>T (p.Ile88=)
c.186A>T (p.Ile62=)
c.171A>T (p.Ile57=)
c.93A>T (p.Ile31=)
17g.28529124C>ACA398323013FOXN1c.730C>A (p.Pro244Thr)
c.*1196-73015G>T (n.*1196-73015G>T)
c.787C>A (p.Pro263Thr)
c.784C>A (p.Pro262Thr)
c.766C>A (p.Pro256Thr)
c.733C>A (p.Pro245Thr)
c.265C>A (p.Pro89Thr)
c.187C>A (p.Pro63Thr)
c.172C>A (p.Pro58Thr)
c.94C>A (p.Pro32Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.28529124C=CA2254345679FOXN1c.730C= (p.Pro244=)
c.*1196-73015G= (n.*1196-73015G=)
c.787C= (p.Pro263=)
c.784C= (p.Pro262=)
c.766C= (p.Pro256=)
c.733C= (p.Pro245=)
c.265C= (p.Pro89=)
c.187C= (p.Pro63=)
c.172C= (p.Pro58=)
c.94C= (p.Pro32=)
17g.28529124C>GCA398323015FOXN1c.730C>G (p.Pro244Ala)
c.*1196-73015G>C (n.*1196-73015G>C)
c.787C>G (p.Pro263Ala)
c.784C>G (p.Pro262Ala)
c.766C>G (p.Pro256Ala)
c.733C>G (p.Pro245Ala)
c.265C>G (p.Pro89Ala)
c.187C>G (p.Pro63Ala)
c.172C>G (p.Pro58Ala)
c.94C>G (p.Pro32Ala)
17g.28529124C>TCA398323016FOXN1c.730C>T (p.Pro244Ser)
c.*1196-73015G>A (n.*1196-73015G>A)
c.787C>T (p.Pro263Ser)
c.784C>T (p.Pro262Ser)
c.766C>T (p.Pro256Ser)
c.733C>T (p.Pro245Ser)
c.265C>T (p.Pro89Ser)
c.187C>T (p.Pro63Ser)
c.172C>T (p.Pro58Ser)
c.94C>T (p.Pro32Ser)
dbSNP gnomAD v4
17g.28529125C>ACA398323018FOXN1c.731C>A (p.Pro244His)
c.*1196-73016G>T (n.*1196-73016G>T)
c.788C>A (p.Pro263His)
c.785C>A (p.Pro262His)
c.767C>A (p.Pro256His)
c.734C>A (p.Pro245His)
c.266C>A (p.Pro89His)
c.188C>A (p.Pro63His)
c.173C>A (p.Pro58His)
c.95C>A (p.Pro32His)
17g.28529125C>GCA398323019FOXN1c.731C>G (p.Pro244Arg)
c.*1196-73016G>C (n.*1196-73016G>C)
c.788C>G (p.Pro263Arg)
c.785C>G (p.Pro262Arg)
c.767C>G (p.Pro256Arg)
c.734C>G (p.Pro245Arg)
c.266C>G (p.Pro89Arg)
c.188C>G (p.Pro63Arg)
c.173C>G (p.Pro58Arg)
c.95C>G (p.Pro32Arg)
17g.28529125C>TCA398323021FOXN1c.731C>T (p.Pro244Leu)
c.*1196-73016G>A (n.*1196-73016G>A)
c.788C>T (p.Pro263Leu)
c.785C>T (p.Pro262Leu)
c.767C>T (p.Pro256Leu)
c.734C>T (p.Pro245Leu)
c.266C>T (p.Pro89Leu)
c.188C>T (p.Pro63Leu)
c.173C>T (p.Pro58Leu)
c.95C>T (p.Pro32Leu)
gnomAD v4
17g.28529126C>ACA499088088FOXN1c.732C>A (p.Pro244=)
c.*1196-73017G>T (n.*1196-73017G>T)
c.789C>A (p.Pro263=)
c.786C>A (p.Pro262=)
c.768C>A (p.Pro256=)
c.735C>A (p.Pro245=)
c.267C>A (p.Pro89=)
c.189C>A (p.Pro63=)
c.174C>A (p.Pro58=)
c.96C>A (p.Pro32=)
17g.28529126C>GCA499088089FOXN1c.732C>G (p.Pro244=)
c.*1196-73017G>C (n.*1196-73017G>C)
c.789C>G (p.Pro263=)
c.786C>G (p.Pro262=)
c.768C>G (p.Pro256=)
c.735C>G (p.Pro245=)
c.267C>G (p.Pro89=)
c.189C>G (p.Pro63=)
c.174C>G (p.Pro58=)
c.96C>G (p.Pro32=)
17g.28529126C>TCA499088090FOXN1c.732C>T (p.Pro244=)
c.*1196-73017G>A (n.*1196-73017G>A)
c.789C>T (p.Pro263=)
c.786C>T (p.Pro262=)
c.768C>T (p.Pro256=)
c.735C>T (p.Pro245=)
c.267C>T (p.Pro89=)
c.189C>T (p.Pro63=)
c.174C>T (p.Pro58=)
c.96C>T (p.Pro32=)
17g.28529127T>ACA398323024FOXN1c.733T>A (p.Tyr245Asn)
c.*1196-73018A>T (n.*1196-73018A>T)
c.790T>A (p.Tyr264Asn)
c.787T>A (p.Tyr263Asn)
c.769T>A (p.Tyr257Asn)
c.736T>A (p.Tyr246Asn)
c.268T>A (p.Tyr90Asn)
c.190T>A (p.Tyr64Asn)
c.175T>A (p.Tyr59Asn)
c.97T>A (p.Tyr33Asn)
17g.28529127T>CCA398323026FOXN1c.733T>C (p.Tyr245His)
c.*1196-73018A>G (n.*1196-73018A>G)
c.790T>C (p.Tyr264His)
c.787T>C (p.Tyr263His)
c.769T>C (p.Tyr257His)
c.736T>C (p.Tyr246His)
c.268T>C (p.Tyr90His)
c.190T>C (p.Tyr64His)
c.175T>C (p.Tyr59His)
c.97T>C (p.Tyr33His)
dbSNP gnomAD v2 gnomAD v4
17g.28529127T>GCA398323023FOXN1c.733T>G (p.Tyr245Asp)
c.*1196-73018A>C (n.*1196-73018A>C)
c.790T>G (p.Tyr264Asp)
c.787T>G (p.Tyr263Asp)
c.769T>G (p.Tyr257Asp)
c.736T>G (p.Tyr246Asp)
c.268T>G (p.Tyr90Asp)
c.190T>G (p.Tyr64Asp)
c.175T>G (p.Tyr59Asp)
c.97T>G (p.Tyr33Asp)
17g.28529127T=CA2254345680FOXN1c.733T= (p.Tyr245=)
c.*1196-73018A= (n.*1196-73018A=)
c.790T= (p.Tyr264=)
c.787T= (p.Tyr263=)
c.769T= (p.Tyr257=)
c.736T= (p.Tyr246=)
c.268T= (p.Tyr90=)
c.190T= (p.Tyr64=)
c.175T= (p.Tyr59=)
c.97T= (p.Tyr33=)
17g.28529128A>CCA398323030FOXN1c.734A>C (p.Tyr245Ser)
c.*1196-73019T>G (n.*1196-73019T>G)
c.791A>C (p.Tyr264Ser)
c.788A>C (p.Tyr263Ser)
c.770A>C (p.Tyr257Ser)
c.737A>C (p.Tyr246Ser)
c.269A>C (p.Tyr90Ser)
c.191A>C (p.Tyr64Ser)
c.176A>C (p.Tyr59Ser)
c.98A>C (p.Tyr33Ser)
gnomAD v4
17g.28529128A>GCA398323028FOXN1c.734A>G (p.Tyr245Cys)
c.*1196-73019T>C (n.*1196-73019T>C)
c.791A>G (p.Tyr264Cys)
c.788A>G (p.Tyr263Cys)
c.770A>G (p.Tyr257Cys)
c.737A>G (p.Tyr246Cys)
c.269A>G (p.Tyr90Cys)
c.191A>G (p.Tyr64Cys)
c.176A>G (p.Tyr59Cys)
c.98A>G (p.Tyr33Cys)
17g.28529128A>TCA398323031FOXN1c.734A>T (p.Tyr245Phe)
c.*1196-73019T>A (n.*1196-73019T>A)
c.791A>T (p.Tyr264Phe)
c.788A>T (p.Tyr263Phe)
c.770A>T (p.Tyr257Phe)
c.737A>T (p.Tyr246Phe)
c.269A>T (p.Tyr90Phe)
c.191A>T (p.Tyr64Phe)
c.176A>T (p.Tyr59Phe)
c.98A>T (p.Tyr33Phe)
17g.28529129C>ACA398323033FOXN1c.735C>A (p.Tyr245Ter)
c.*1196-73020G>T (n.*1196-73020G>T)
c.792C>A (p.Tyr264Ter)
c.789C>A (p.Tyr263Ter)
c.771C>A (p.Tyr257Ter)
c.738C>A (p.Tyr246Ter)
c.270C>A (p.Tyr90Ter)
c.192C>A (p.Tyr64Ter)
c.177C>A (p.Tyr59Ter)
c.99C>A (p.Tyr33Ter)
17g.28529129C=CA2254345681FOXN1c.735C= (p.Tyr245=)
c.*1196-73020G= (n.*1196-73020G=)
c.792C= (p.Tyr264=)
c.789C= (p.Tyr263=)
c.771C= (p.Tyr257=)
c.738C= (p.Tyr246=)
c.270C= (p.Tyr90=)
c.192C= (p.Tyr64=)
c.177C= (p.Tyr59=)
c.99C= (p.Tyr33=)
17g.28529129C>GCA398323034FOXN1c.735C>G (p.Tyr245Ter)
c.*1196-73020G>C (n.*1196-73020G>C)
c.792C>G (p.Tyr264Ter)
c.789C>G (p.Tyr263Ter)
c.771C>G (p.Tyr257Ter)
c.738C>G (p.Tyr246Ter)
c.270C>G (p.Tyr90Ter)
c.192C>G (p.Tyr64Ter)
c.177C>G (p.Tyr59Ter)
c.99C>G (p.Tyr33Ter)
17g.28529129C>TCA8459331FOXN1c.735C>T (p.Tyr245=)
c.*1196-73020G>A (n.*1196-73020G>A)
c.792C>T (p.Tyr264=)
c.789C>T (p.Tyr263=)
c.771C>T (p.Tyr257=)
c.738C>T (p.Tyr246=)
c.270C>T (p.Tyr90=)
c.192C>T (p.Tyr64=)
c.177C>T (p.Tyr59=)
c.99C>T (p.Tyr33=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28529130C>ACA398323037FOXN1c.736C>A (p.Leu246Met)
c.*1196-73021G>T (n.*1196-73021G>T)
c.793C>A (p.Leu265Met)
c.790C>A (p.Leu264Met)
c.772C>A (p.Leu258Met)
c.739C>A (p.Leu247Met)
c.271C>A (p.Leu91Met)
c.193C>A (p.Leu65Met)
c.178C>A (p.Leu60Met)
c.100C>A (p.Leu34Met)
17g.28529130C>GCA398323039FOXN1c.736C>G (p.Leu246Val)
c.*1196-73021G>C (n.*1196-73021G>C)
c.793C>G (p.Leu265Val)
c.790C>G (p.Leu264Val)
c.772C>G (p.Leu258Val)
c.739C>G (p.Leu247Val)
c.271C>G (p.Leu91Val)
c.193C>G (p.Leu65Val)
c.178C>G (p.Leu60Val)
c.100C>G (p.Leu34Val)
17g.28529130C>TCA499088091FOXN1c.736C>T (p.Leu246=)
c.*1196-73021G>A (n.*1196-73021G>A)
c.793C>T (p.Leu265=)
c.790C>T (p.Leu264=)
c.772C>T (p.Leu258=)
c.739C>T (p.Leu247=)
c.271C>T (p.Leu91=)
c.193C>T (p.Leu65=)
c.178C>T (p.Leu60=)
c.100C>T (p.Leu34=)
17g.28529131T>ACA398323040FOXN1c.737T>A (p.Leu246Gln)
c.*1196-73022A>T (n.*1196-73022A>T)
c.794T>A (p.Leu265Gln)
c.791T>A (p.Leu264Gln)
c.773T>A (p.Leu258Gln)
c.740T>A (p.Leu247Gln)
c.272T>A (p.Leu91Gln)
c.194T>A (p.Leu65Gln)
c.179T>A (p.Leu60Gln)
c.101T>A (p.Leu34Gln)
17g.28529131T>CCA8459332FOXN1c.737T>C (p.Leu246Pro)
c.*1196-73022A>G (n.*1196-73022A>G)
c.794T>C (p.Leu265Pro)
c.791T>C (p.Leu264Pro)
c.773T>C (p.Leu258Pro)
c.740T>C (p.Leu247Pro)
c.272T>C (p.Leu91Pro)
c.194T>C (p.Leu65Pro)
c.179T>C (p.Leu60Pro)
c.101T>C (p.Leu34Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28529131T>GCA398323043FOXN1c.737T>G (p.Leu246Arg)
c.*1196-73022A>C (n.*1196-73022A>C)
c.794T>G (p.Leu265Arg)
c.791T>G (p.Leu264Arg)
c.773T>G (p.Leu258Arg)
c.740T>G (p.Leu247Arg)
c.272T>G (p.Leu91Arg)
c.194T>G (p.Leu65Arg)
c.179T>G (p.Leu60Arg)
c.101T>G (p.Leu34Arg)
17g.28529131T=CA2254345682FOXN1c.737T= (p.Leu246=)
c.*1196-73022A= (n.*1196-73022A=)
c.794T= (p.Leu265=)
c.791T= (p.Leu264=)
c.773T= (p.Leu258=)
c.740T= (p.Leu247=)
c.272T= (p.Leu91=)
c.194T= (p.Leu65=)
c.179T= (p.Leu60=)
c.101T= (p.Leu34=)
17g.28529132G>ACA499088093FOXN1c.738G>A (p.Leu246=)
c.*1196-73023C>T (n.*1196-73023C>T)
c.795G>A (p.Leu265=)
c.792G>A (p.Leu264=)
c.774G>A (p.Leu258=)
c.741G>A (p.Leu247=)
c.273G>A (p.Leu91=)
c.195G>A (p.Leu65=)
c.180G>A (p.Leu60=)
c.102G>A (p.Leu34=)
17g.28529132G>CCA499088094FOXN1c.738G>C (p.Leu246=)
c.*1196-73023C>G (n.*1196-73023C>G)
c.795G>C (p.Leu265=)
c.792G>C (p.Leu264=)
c.774G>C (p.Leu258=)
c.741G>C (p.Leu247=)
c.273G>C (p.Leu91=)
c.195G>C (p.Leu65=)
c.180G>C (p.Leu60=)
c.102G>C (p.Leu34=)
17g.28529132G>TCA499088092FOXN1c.738G>T (p.Leu246=)
c.*1196-73023C>A (n.*1196-73023C>A)
c.795G>T (p.Leu265=)
c.792G>T (p.Leu264=)
c.774G>T (p.Leu258=)
c.741G>T (p.Leu247=)
c.273G>T (p.Leu91=)
c.195G>T (p.Leu65=)
c.180G>T (p.Leu60=)
c.102G>T (p.Leu34=)
gnomAD v4
17g.28529133G>ACA398323044FOXN1c.739G>A (p.Gly247Ser)
c.*1196-73024C>T (n.*1196-73024C>T)
c.796G>A (p.Gly266Ser)
c.793G>A (p.Gly265Ser)
c.775G>A (p.Gly259Ser)
c.742G>A (p.Gly248Ser)
c.274G>A (p.Gly92Ser)
c.196G>A (p.Gly66Ser)
c.181G>A (p.Gly61Ser)
c.103G>A (p.Gly35Ser)
17g.28529133G>CCA398323046FOXN1c.739G>C (p.Gly247Arg)
c.*1196-73024C>G (n.*1196-73024C>G)
c.796G>C (p.Gly266Arg)
c.793G>C (p.Gly265Arg)
c.775G>C (p.Gly259Arg)
c.742G>C (p.Gly248Arg)
c.274G>C (p.Gly92Arg)
c.196G>C (p.Gly66Arg)
c.181G>C (p.Gly61Arg)
c.103G>C (p.Gly35Arg)
17g.28529133G>TCA398323048FOXN1c.739G>T (p.Gly247Cys)
c.*1196-73024C>A (n.*1196-73024C>A)
c.796G>T (p.Gly266Cys)
c.793G>T (p.Gly265Cys)
c.775G>T (p.Gly259Cys)
c.742G>T (p.Gly248Cys)
c.274G>T (p.Gly92Cys)
c.196G>T (p.Gly66Cys)
c.181G>T (p.Gly61Cys)
c.103G>T (p.Gly35Cys)
17g.28529134G>ACA398323053FOXN1c.740G>A (p.Gly247Asp)
c.*1196-73025C>T (n.*1196-73025C>T)
c.797G>A (p.Gly266Asp)
c.794G>A (p.Gly265Asp)
c.776G>A (p.Gly259Asp)
c.743G>A (p.Gly248Asp)
c.275G>A (p.Gly92Asp)
c.197G>A (p.Gly66Asp)
c.182G>A (p.Gly61Asp)
c.104G>A (p.Gly35Asp)
17g.28529134G>CCA398323051FOXN1c.740G>C (p.Gly247Ala)
c.*1196-73025C>G (n.*1196-73025C>G)
c.797G>C (p.Gly266Ala)
c.794G>C (p.Gly265Ala)
c.776G>C (p.Gly259Ala)
c.743G>C (p.Gly248Ala)
c.275G>C (p.Gly92Ala)
c.197G>C (p.Gly66Ala)
c.182G>C (p.Gly61Ala)
c.104G>C (p.Gly35Ala)
17g.28529134G>TCA398323050FOXN1c.740G>T (p.Gly247Val)
c.*1196-73025C>A (n.*1196-73025C>A)
c.797G>T (p.Gly266Val)
c.794G>T (p.Gly265Val)
c.776G>T (p.Gly259Val)
c.743G>T (p.Gly248Val)
c.275G>T (p.Gly92Val)
c.197G>T (p.Gly66Val)
c.182G>T (p.Gly61Val)
c.104G>T (p.Gly35Val)
ClinVar dbSNP
17g.28529135C>ACA499088099FOXN1c.741C>A (p.Gly247=)
c.*1196-73026G>T (n.*1196-73026G>T)
c.798C>A (p.Gly266=)
c.795C>A (p.Gly265=)
c.777C>A (p.Gly259=)
c.744C>A (p.Gly248=)
c.276C>A (p.Gly92=)
c.198C>A (p.Gly66=)
c.183C>A (p.Gly61=)
c.105C>A (p.Gly35=)
ClinVar
17g.28529135C>GCA499088100FOXN1c.741C>G (p.Gly247=)
c.*1196-73026G>C (n.*1196-73026G>C)
c.798C>G (p.Gly266=)
c.795C>G (p.Gly265=)
c.777C>G (p.Gly259=)
c.744C>G (p.Gly248=)
c.276C>G (p.Gly92=)
c.198C>G (p.Gly66=)
c.183C>G (p.Gly61=)
c.105C>G (p.Gly35=)
gnomAD v4
17g.28529135C>TCA499088102FOXN1c.741C>T (p.Gly247=)
c.*1196-73026G>A (n.*1196-73026G>A)
c.798C>T (p.Gly266=)
c.795C>T (p.Gly265=)
c.777C>T (p.Gly259=)
c.744C>T (p.Gly248=)
c.276C>T (p.Gly92=)
c.198C>T (p.Gly66=)
c.183C>T (p.Gly61=)
c.105C>T (p.Gly35=)
17g.28529136T>ACA398323055FOXN1c.742T>A (p.Ser248Thr)
c.*1196-73027A>T (n.*1196-73027A>T)
c.799T>A (p.Ser267Thr)
c.796T>A (p.Ser266Thr)
c.778T>A (p.Ser260Thr)
c.745T>A (p.Ser249Thr)
c.277T>A (p.Ser93Thr)
c.199T>A (p.Ser67Thr)
c.184T>A (p.Ser62Thr)
c.106T>A (p.Ser36Thr)
17g.28529136T>CCA398323056FOXN1c.742T>C (p.Ser248Pro)
c.*1196-73027A>G (n.*1196-73027A>G)
c.799T>C (p.Ser267Pro)
c.796T>C (p.Ser266Pro)
c.778T>C (p.Ser260Pro)
c.745T>C (p.Ser249Pro)
c.277T>C (p.Ser93Pro)
c.199T>C (p.Ser67Pro)
c.184T>C (p.Ser62Pro)
c.106T>C (p.Ser36Pro)
17g.28529136T>GCA398323057FOXN1c.742T>G (p.Ser248Ala)
c.*1196-73027A>C (n.*1196-73027A>C)
c.799T>G (p.Ser267Ala)
c.796T>G (p.Ser266Ala)
c.778T>G (p.Ser260Ala)
c.745T>G (p.Ser249Ala)
c.277T>G (p.Ser93Ala)
c.199T>G (p.Ser67Ala)
c.184T>G (p.Ser62Ala)
c.106T>G (p.Ser36Ala)
17g.28529137C>ACA398323059FOXN1c.743C>A (p.Ser248Tyr)
c.*1196-73028G>T (n.*1196-73028G>T)
c.800C>A (p.Ser267Tyr)
c.797C>A (p.Ser266Tyr)
c.779C>A (p.Ser260Tyr)
c.746C>A (p.Ser249Tyr)
c.278C>A (p.Ser93Tyr)
c.200C>A (p.Ser67Tyr)
c.185C>A (p.Ser62Tyr)
c.107C>A (p.Ser36Tyr)
17g.28529137C>GCA398323060FOXN1c.743C>G (p.Ser248Cys)
c.*1196-73028G>C (n.*1196-73028G>C)
c.800C>G (p.Ser267Cys)
c.797C>G (p.Ser266Cys)
c.779C>G (p.Ser260Cys)
c.746C>G (p.Ser249Cys)
c.278C>G (p.Ser93Cys)
c.200C>G (p.Ser67Cys)
c.185C>G (p.Ser62Cys)
c.107C>G (p.Ser36Cys)
gnomAD v4
17g.28529137C>TCA398323062FOXN1c.743C>T (p.Ser248Phe)
c.*1196-73028G>A (n.*1196-73028G>A)
c.800C>T (p.Ser267Phe)
c.797C>T (p.Ser266Phe)
c.779C>T (p.Ser260Phe)
c.746C>T (p.Ser249Phe)
c.278C>T (p.Ser93Phe)
c.200C>T (p.Ser67Phe)
c.185C>T (p.Ser62Phe)
c.107C>T (p.Ser36Phe)
COSMIC
17g.28529138dupCA2636835857FOXN1c.744dup (p.Ser249LeufsTer?)
c.*1196-73028dup (n.*1196-73028dup)
c.801dup (p.Ser268LeufsTer?)
c.798dup (p.Ser267LeufsTer?)
c.780dup (p.Ser261LeufsTer?)
c.747dup (p.Ser250LeufsTer?)
c.279dup (p.Ser94LeufsTer?)
c.201dup (p.Ser68LeufsTer?)
c.186dup (p.Ser63LeufsTer?)
c.108dup (p.Ser37LeufsTer?)
gnomAD v4
17g.28529138C>ACA499088104FOXN1c.744C>A (p.Ser248=)
c.*1196-73029G>T (n.*1196-73029G>T)
c.801C>A (p.Ser267=)
c.798C>A (p.Ser266=)
c.780C>A (p.Ser260=)
c.747C>A (p.Ser249=)
c.279C>A (p.Ser93=)
c.201C>A (p.Ser67=)
c.186C>A (p.Ser62=)
c.108C>A (p.Ser36=)
17g.28529138C=CA2254345683FOXN1c.744C= (p.Ser248=)
c.*1196-73029G= (n.*1196-73029G=)
c.801C= (p.Ser267=)
c.798C= (p.Ser266=)
c.780C= (p.Ser260=)
c.747C= (p.Ser249=)
c.279C= (p.Ser93=)
c.201C= (p.Ser67=)
c.186C= (p.Ser62=)
c.108C= (p.Ser36=)
17g.28529138C>GCA499088105FOXN1c.744C>G (p.Ser248=)
c.*1196-73029G>C (n.*1196-73029G>C)
c.801C>G (p.Ser267=)
c.798C>G (p.Ser266=)
c.780C>G (p.Ser260=)
c.747C>G (p.Ser249=)
c.279C>G (p.Ser93=)
c.201C>G (p.Ser67=)
c.186C>G (p.Ser62=)
c.108C>G (p.Ser36=)
17g.28529138C>TCA499088107FOXN1c.744C>T (p.Ser248=)
c.*1196-73029G>A (n.*1196-73029G>A)
c.801C>T (p.Ser267=)
c.798C>T (p.Ser266=)
c.780C>T (p.Ser260=)
c.747C>T (p.Ser249=)
c.279C>T (p.Ser93=)
c.201C>T (p.Ser67=)
c.186C>T (p.Ser62=)
c.108C>T (p.Ser36=)
dbSNP gnomAD v3 gnomAD v4
17g.28529139T>ACA398323063FOXN1c.745T>A (p.Ser249Thr)
c.*1196-73030A>T (n.*1196-73030A>T)
c.802T>A (p.Ser268Thr)
c.799T>A (p.Ser267Thr)
c.781T>A (p.Ser261Thr)
c.748T>A (p.Ser250Thr)
c.280T>A (p.Ser94Thr)
c.202T>A (p.Ser68Thr)
c.187T>A (p.Ser63Thr)
c.109T>A (p.Ser37Thr)
gnomAD v4
17g.28529139T>CCA398323065FOXN1c.745T>C (p.Ser249Pro)
c.*1196-73030A>G (n.*1196-73030A>G)
c.802T>C (p.Ser268Pro)
c.799T>C (p.Ser267Pro)
c.781T>C (p.Ser261Pro)
c.748T>C (p.Ser250Pro)
c.280T>C (p.Ser94Pro)
c.202T>C (p.Ser68Pro)
c.187T>C (p.Ser63Pro)
c.109T>C (p.Ser37Pro)
17g.28529139T>GCA398323066FOXN1c.745T>G (p.Ser249Ala)
c.*1196-73030A>C (n.*1196-73030A>C)
c.802T>G (p.Ser268Ala)
c.799T>G (p.Ser267Ala)
c.781T>G (p.Ser261Ala)
c.748T>G (p.Ser250Ala)
c.280T>G (p.Ser94Ala)
c.202T>G (p.Ser68Ala)
c.187T>G (p.Ser63Ala)
c.109T>G (p.Ser37Ala)
17g.28529140C>ACA398323068FOXN1c.746C>A (p.Ser249Ter)
c.*1196-73031G>T (n.*1196-73031G>T)
c.803C>A (p.Ser268Ter)
c.800C>A (p.Ser267Ter)
c.782C>A (p.Ser261Ter)
c.749C>A (p.Ser250Ter)
c.281C>A (p.Ser94Ter)
c.203C>A (p.Ser68Ter)
c.188C>A (p.Ser63Ter)
c.110C>A (p.Ser37Ter)
17g.28529140C>GCA398323069FOXN1c.746C>G (p.Ser249Ter)
c.*1196-73031G>C (n.*1196-73031G>C)
c.803C>G (p.Ser268Ter)
c.800C>G (p.Ser267Ter)
c.782C>G (p.Ser261Ter)
c.749C>G (p.Ser250Ter)
c.281C>G (p.Ser94Ter)
c.203C>G (p.Ser68Ter)
c.188C>G (p.Ser63Ter)
c.110C>G (p.Ser37Ter)
17g.28529140C>TCA398323070FOXN1c.746C>T (p.Ser249Leu)
c.*1196-73031G>A (n.*1196-73031G>A)
c.803C>T (p.Ser268Leu)
c.800C>T (p.Ser267Leu)
c.782C>T (p.Ser261Leu)
c.749C>T (p.Ser250Leu)
c.281C>T (p.Ser94Leu)
c.203C>T (p.Ser68Leu)
c.188C>T (p.Ser63Leu)
c.110C>T (p.Ser37Leu)
17g.28529141A>CCA499088115FOXN1c.747A>C (p.Ser249=)
c.*1196-73032T>G (n.*1196-73032T>G)
c.804A>C (p.Ser268=)
c.801A>C (p.Ser267=)
c.783A>C (p.Ser261=)
c.750A>C (p.Ser250=)
c.282A>C (p.Ser94=)
c.204A>C (p.Ser68=)
c.189A>C (p.Ser63=)
c.111A>C (p.Ser37=)
gnomAD v4
17g.28529141A>GCA499088116FOXN1c.747A>G (p.Ser249=)
c.*1196-73032T>C (n.*1196-73032T>C)
c.804A>G (p.Ser268=)
c.801A>G (p.Ser267=)
c.783A>G (p.Ser261=)
c.750A>G (p.Ser250=)
c.282A>G (p.Ser94=)
c.204A>G (p.Ser68=)
c.189A>G (p.Ser63=)
c.111A>G (p.Ser37=)
17g.28529141A>TCA499088117FOXN1c.747A>T (p.Ser249=)
c.*1196-73032T>A (n.*1196-73032T>A)
c.804A>T (p.Ser268=)
c.801A>T (p.Ser267=)
c.783A>T (p.Ser261=)
c.750A>T (p.Ser250=)
c.282A>T (p.Ser94=)
c.204A>T (p.Ser68=)
c.189A>T (p.Ser63=)
c.111A>T (p.Ser37=)
17g.28529142C>ACA398323075FOXN1c.748C>A (p.His250Asn)
c.*1196-73033G>T (n.*1196-73033G>T)
c.805C>A (p.His269Asn)
c.802C>A (p.His268Asn)
c.784C>A (p.His262Asn)
c.751C>A (p.His251Asn)
c.283C>A (p.His95Asn)
c.205C>A (p.His69Asn)
c.190C>A (p.His64Asn)
c.112C>A (p.His38Asn)
17g.28529142C>GCA398323074FOXN1c.748C>G (p.His250Asp)
c.*1196-73033G>C (n.*1196-73033G>C)
c.805C>G (p.His269Asp)
c.802C>G (p.His268Asp)
c.784C>G (p.His262Asp)
c.751C>G (p.His251Asp)
c.283C>G (p.His95Asp)
c.205C>G (p.His69Asp)
c.190C>G (p.His64Asp)
c.112C>G (p.His38Asp)
17g.28529142C>TCA398323073FOXN1c.748C>T (p.His250Tyr)
c.*1196-73033G>A (n.*1196-73033G>A)
c.805C>T (p.His269Tyr)
c.802C>T (p.His268Tyr)
c.784C>T (p.His262Tyr)
c.751C>T (p.His251Tyr)
c.283C>T (p.His95Tyr)
c.205C>T (p.His69Tyr)
c.190C>T (p.His64Tyr)
c.112C>T (p.His38Tyr)
gnomAD v4
17g.28529143A>CCA398323077FOXN1c.749A>C (p.His250Pro)
c.*1196-73034T>G (n.*1196-73034T>G)
c.806A>C (p.His269Pro)
c.803A>C (p.His268Pro)
c.785A>C (p.His262Pro)
c.752A>C (p.His251Pro)
c.284A>C (p.His95Pro)
c.206A>C (p.His69Pro)
c.191A>C (p.His64Pro)
c.113A>C (p.His38Pro)
17g.28529143A>GCA398323079FOXN1c.749A>G (p.His250Arg)
c.*1196-73034T>C (n.*1196-73034T>C)
c.806A>G (p.His269Arg)
c.803A>G (p.His268Arg)
c.785A>G (p.His262Arg)
c.752A>G (p.His251Arg)
c.284A>G (p.His95Arg)
c.206A>G (p.His69Arg)
c.191A>G (p.His64Arg)
c.113A>G (p.His38Arg)
17g.28529143A>TCA398323081FOXN1c.749A>T (p.His250Leu)
c.*1196-73034T>A (n.*1196-73034T>A)
c.806A>T (p.His269Leu)
c.803A>T (p.His268Leu)
c.785A>T (p.His262Leu)
c.752A>T (p.His251Leu)
c.284A>T (p.His95Leu)
c.206A>T (p.His69Leu)
c.191A>T (p.His64Leu)
c.113A>T (p.His38Leu)
17g.28529144C>ACA398323082FOXN1c.750C>A (p.His250Gln)
c.*1196-73035G>T (n.*1196-73035G>T)
c.807C>A (p.His269Gln)
c.804C>A (p.His268Gln)
c.786C>A (p.His262Gln)
c.753C>A (p.His251Gln)
c.285C>A (p.His95Gln)
c.207C>A (p.His69Gln)
c.192C>A (p.His64Gln)
c.114C>A (p.His38Gln)
17g.28529144C=CA2254345684FOXN1c.750C= (p.His250=)
c.*1196-73035G= (n.*1196-73035G=)
c.807C= (p.His269=)
c.804C= (p.His268=)
c.786C= (p.His262=)
c.753C= (p.His251=)
c.285C= (p.His95=)
c.207C= (p.His69=)
c.192C= (p.His64=)
c.114C= (p.His38=)
17g.28529144C>GCA398323084FOXN1c.750C>G (p.His250Gln)
c.*1196-73035G>C (n.*1196-73035G>C)
c.807C>G (p.His269Gln)
c.804C>G (p.His268Gln)
c.786C>G (p.His262Gln)
c.753C>G (p.His251Gln)
c.285C>G (p.His95Gln)
c.207C>G (p.His69Gln)
c.192C>G (p.His64Gln)
c.114C>G (p.His38Gln)
gnomAD v4
17g.28529144C>TCA8459333FOXN1c.750C>T (p.His250=)
c.*1196-73035G>A (n.*1196-73035G>A)
c.807C>T (p.His269=)
c.804C>T (p.His268=)
c.786C>T (p.His262=)
c.753C>T (p.His251=)
c.285C>T (p.His95=)
c.207C>T (p.His69=)
c.192C>T (p.His64=)
c.114C>T (p.His38=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28529145T>ACA398323089FOXN1c.751T>A (p.Tyr251Asn)
c.*1196-73036A>T (n.*1196-73036A>T)
c.808T>A (p.Tyr270Asn)
c.805T>A (p.Tyr269Asn)
c.787T>A (p.Tyr263Asn)
c.754T>A (p.Tyr252Asn)
c.286T>A (p.Tyr96Asn)
c.208T>A (p.Tyr70Asn)
c.193T>A (p.Tyr65Asn)
c.115T>A (p.Tyr39Asn)
17g.28529145T>CCA398323086FOXN1c.751T>C (p.Tyr251His)
c.*1196-73036A>G (n.*1196-73036A>G)
c.808T>C (p.Tyr270His)
c.805T>C (p.Tyr269His)
c.787T>C (p.Tyr263His)
c.754T>C (p.Tyr252His)
c.286T>C (p.Tyr96His)
c.208T>C (p.Tyr70His)
c.193T>C (p.Tyr65His)
c.115T>C (p.Tyr39His)
17g.28529145T>GCA398323088FOXN1c.751T>G (p.Tyr251Asp)
c.*1196-73036A>C (n.*1196-73036A>C)
c.808T>G (p.Tyr270Asp)
c.805T>G (p.Tyr269Asp)
c.787T>G (p.Tyr263Asp)
c.754T>G (p.Tyr252Asp)
c.286T>G (p.Tyr96Asp)
c.208T>G (p.Tyr70Asp)
c.193T>G (p.Tyr65Asp)
c.115T>G (p.Tyr39Asp)
17g.28529146A>CCA398323090FOXN1c.752A>C (p.Tyr251Ser)
c.*1196-73037T>G (n.*1196-73037T>G)
c.809A>C (p.Tyr270Ser)
c.806A>C (p.Tyr269Ser)
c.788A>C (p.Tyr263Ser)
c.755A>C (p.Tyr252Ser)
c.287A>C (p.Tyr96Ser)
c.209A>C (p.Tyr70Ser)
c.194A>C (p.Tyr65Ser)
c.116A>C (p.Tyr39Ser)
17g.28529146A>GCA398323092FOXN1c.752A>G (p.Tyr251Cys)
c.*1196-73037T>C (n.*1196-73037T>C)
c.809A>G (p.Tyr270Cys)
c.806A>G (p.Tyr269Cys)
c.788A>G (p.Tyr263Cys)
c.755A>G (p.Tyr252Cys)
c.287A>G (p.Tyr96Cys)
c.209A>G (p.Tyr70Cys)
c.194A>G (p.Tyr65Cys)
c.116A>G (p.Tyr39Cys)
17g.28529146A>TCA398323094FOXN1c.752A>T (p.Tyr251Phe)
c.*1196-73037T>A (n.*1196-73037T>A)
c.809A>T (p.Tyr270Phe)
c.806A>T (p.Tyr269Phe)
c.788A>T (p.Tyr263Phe)
c.755A>T (p.Tyr252Phe)
c.287A>T (p.Tyr96Phe)
c.209A>T (p.Tyr70Phe)
c.194A>T (p.Tyr65Phe)
c.116A>T (p.Tyr39Phe)
17g.28529147T>ACA398323095FOXN1c.753T>A (p.Tyr251Ter)
c.*1196-73038A>T (n.*1196-73038A>T)
c.810T>A (p.Tyr270Ter)
c.807T>A (p.Tyr269Ter)
c.789T>A (p.Tyr263Ter)
c.756T>A (p.Tyr252Ter)
c.288T>A (p.Tyr96Ter)
c.210T>A (p.Tyr70Ter)
c.195T>A (p.Tyr65Ter)
c.117T>A (p.Tyr39Ter)
17g.28529147T>CCA499088127FOXN1c.753T>C (p.Tyr251=)
c.*1196-73038A>G (n.*1196-73038A>G)
c.810T>C (p.Tyr270=)
c.807T>C (p.Tyr269=)
c.789T>C (p.Tyr263=)
c.756T>C (p.Tyr252=)
c.288T>C (p.Tyr96=)
c.210T>C (p.Tyr70=)
c.195T>C (p.Tyr65=)
c.117T>C (p.Tyr39=)
17g.28529147T>GCA398323097FOXN1c.753T>G (p.Tyr251Ter)
c.*1196-73038A>C (n.*1196-73038A>C)
c.810T>G (p.Tyr270Ter)
c.807T>G (p.Tyr269Ter)
c.789T>G (p.Tyr263Ter)
c.756T>G (p.Tyr252Ter)
c.288T>G (p.Tyr96Ter)
c.210T>G (p.Tyr70Ter)
c.195T>G (p.Tyr65Ter)
c.117T>G (p.Tyr39Ter)
17g.28529148C>ACA398323098FOXN1c.754C>A (p.Gln252Lys)
c.*1196-73039G>T (n.*1196-73039G>T)
c.811C>A (p.Gln271Lys)
c.808C>A (p.Gln270Lys)
c.790C>A (p.Gln264Lys)
c.757C>A (p.Gln253Lys)
c.289C>A (p.Gln97Lys)
c.211C>A (p.Gln71Lys)
c.196C>A (p.Gln66Lys)
c.118C>A (p.Gln40Lys)
17g.28529148C>GCA398323102FOXN1c.754C>G (p.Gln252Glu)
c.*1196-73039G>C (n.*1196-73039G>C)
c.811C>G (p.Gln271Glu)
c.808C>G (p.Gln270Glu)
c.790C>G (p.Gln264Glu)
c.757C>G (p.Gln253Glu)
c.289C>G (p.Gln97Glu)
c.211C>G (p.Gln71Glu)
c.196C>G (p.Gln66Glu)
c.118C>G (p.Gln40Glu)
17g.28529148C>TCA398323100FOXN1c.754C>T (p.Gln252Ter)
c.*1196-73039G>A (n.*1196-73039G>A)
c.811C>T (p.Gln271Ter)
c.808C>T (p.Gln270Ter)
c.790C>T (p.Gln264Ter)
c.757C>T (p.Gln253Ter)
c.289C>T (p.Gln97Ter)
c.211C>T (p.Gln71Ter)
c.196C>T (p.Gln66Ter)
c.118C>T (p.Gln40Ter)
COSMIC
17g.28529149A=CA2254345685FOXN1c.755A= (p.Gln252=)
c.*1196-73040T= (n.*1196-73040T=)
c.812A= (p.Gln271=)
c.809A= (p.Gln270=)
c.791A= (p.Gln264=)
c.758A= (p.Gln253=)
c.290A= (p.Gln97=)
c.212A= (p.Gln71=)
c.197A= (p.Gln66=)
c.119A= (p.Gln40=)
17g.28529149A>CCA398323104FOXN1c.755A>C (p.Gln252Pro)
c.*1196-73040T>G (n.*1196-73040T>G)
c.812A>C (p.Gln271Pro)
c.809A>C (p.Gln270Pro)
c.791A>C (p.Gln264Pro)
c.758A>C (p.Gln253Pro)
c.290A>C (p.Gln97Pro)
c.212A>C (p.Gln71Pro)
c.197A>C (p.Gln66Pro)
c.119A>C (p.Gln40Pro)
dbSNP
17g.28529149A>GCA398323105FOXN1c.755A>G (p.Gln252Arg)
c.*1196-73040T>C (n.*1196-73040T>C)
c.812A>G (p.Gln271Arg)
c.809A>G (p.Gln270Arg)
c.791A>G (p.Gln264Arg)
c.758A>G (p.Gln253Arg)
c.290A>G (p.Gln97Arg)
c.212A>G (p.Gln71Arg)
c.197A>G (p.Gln66Arg)
c.119A>G (p.Gln40Arg)
dbSNP gnomAD v2 gnomAD v4
17g.28529149A>TCA398323107FOXN1c.755A>T (p.Gln252Leu)
c.*1196-73040T>A (n.*1196-73040T>A)
c.812A>T (p.Gln271Leu)
c.809A>T (p.Gln270Leu)
c.791A>T (p.Gln264Leu)
c.758A>T (p.Gln253Leu)
c.290A>T (p.Gln97Leu)
c.212A>T (p.Gln71Leu)
c.197A>T (p.Gln66Leu)
c.119A>T (p.Gln40Leu)
17g.28529150G>ACA499088133FOXN1c.756G>A (p.Gln252=)
c.*1196-73041C>T (n.*1196-73041C>T)
c.813G>A (p.Gln271=)
c.810G>A (p.Gln270=)
c.792G>A (p.Gln264=)
c.759G>A (p.Gln253=)
c.291G>A (p.Gln97=)
c.213G>A (p.Gln71=)
c.198G>A (p.Gln66=)
c.120G>A (p.Gln40=)
dbSNP gnomAD v3 gnomAD v4
17g.28529150G>CCA398323109FOXN1c.756G>C (p.Gln252His)
c.*1196-73041C>G (n.*1196-73041C>G)
c.813G>C (p.Gln271His)
c.810G>C (p.Gln270His)
c.792G>C (p.Gln264His)
c.759G>C (p.Gln253His)
c.291G>C (p.Gln97His)
c.213G>C (p.Gln71His)
c.198G>C (p.Gln66His)
c.120G>C (p.Gln40His)
17g.28529150G=CA2254345686FOXN1c.756G= (p.Gln252=)
c.*1196-73041C= (n.*1196-73041C=)
c.813G= (p.Gln271=)
c.810G= (p.Gln270=)
c.792G= (p.Gln264=)
c.759G= (p.Gln253=)
c.291G= (p.Gln97=)
c.213G= (p.Gln71=)
c.198G= (p.Gln66=)
c.120G= (p.Gln40=)
17g.28529150G>TCA398323110FOXN1c.756G>T (p.Gln252His)
c.*1196-73041C>A (n.*1196-73041C>A)
c.813G>T (p.Gln271His)
c.810G>T (p.Gln270His)
c.792G>T (p.Gln264His)
c.759G>T (p.Gln253His)
c.291G>T (p.Gln97His)
c.213G>T (p.Gln71His)
c.198G>T (p.Gln66His)
c.120G>T (p.Gln40His)
17g.28529151T>ACA398323112FOXN1c.757T>A (p.Tyr253Asn)
c.*1196-73042A>T (n.*1196-73042A>T)
c.814T>A (p.Tyr272Asn)
c.811T>A (p.Tyr271Asn)
c.793T>A (p.Tyr265Asn)
c.760T>A (p.Tyr254Asn)
c.292T>A (p.Tyr98Asn)
c.214T>A (p.Tyr72Asn)
c.199T>A (p.Tyr67Asn)
c.121T>A (p.Tyr41Asn)
17g.28529151T>CCA398323113FOXN1c.757T>C (p.Tyr253His)
c.*1196-73042A>G (n.*1196-73042A>G)
c.814T>C (p.Tyr272His)
c.811T>C (p.Tyr271His)
c.793T>C (p.Tyr265His)
c.760T>C (p.Tyr254His)
c.292T>C (p.Tyr98His)
c.214T>C (p.Tyr72His)
c.199T>C (p.Tyr67His)
c.121T>C (p.Tyr41His)
17g.28529151T>GCA398323115FOXN1c.757T>G (p.Tyr253Asp)
c.*1196-73042A>C (n.*1196-73042A>C)
c.814T>G (p.Tyr272Asp)
c.811T>G (p.Tyr271Asp)
c.793T>G (p.Tyr265Asp)
c.760T>G (p.Tyr254Asp)
c.292T>G (p.Tyr98Asp)
c.214T>G (p.Tyr72Asp)
c.199T>G (p.Tyr67Asp)
c.121T>G (p.Tyr41Asp)
17g.28529152A>CCA398323117FOXN1c.758A>C (p.Tyr253Ser)
c.*1196-73043T>G (n.*1196-73043T>G)
c.815A>C (p.Tyr272Ser)
c.812A>C (p.Tyr271Ser)
c.794A>C (p.Tyr265Ser)
c.761A>C (p.Tyr254Ser)
c.293A>C (p.Tyr98Ser)
c.215A>C (p.Tyr72Ser)
c.200A>C (p.Tyr67Ser)
c.122A>C (p.Tyr41Ser)
17g.28529152A>GCA398323119FOXN1c.758A>G (p.Tyr253Cys)
c.*1196-73043T>C (n.*1196-73043T>C)
c.815A>G (p.Tyr272Cys)
c.812A>G (p.Tyr271Cys)
c.794A>G (p.Tyr265Cys)
c.761A>G (p.Tyr254Cys)
c.293A>G (p.Tyr98Cys)
c.215A>G (p.Tyr72Cys)
c.200A>G (p.Tyr67Cys)
c.122A>G (p.Tyr41Cys)
gnomAD v4 COSMIC
17g.28529152A>TCA398323120FOXN1c.758A>T (p.Tyr253Phe)
c.*1196-73043T>A (n.*1196-73043T>A)
c.815A>T (p.Tyr272Phe)
c.812A>T (p.Tyr271Phe)
c.794A>T (p.Tyr265Phe)
c.761A>T (p.Tyr254Phe)
c.293A>T (p.Tyr98Phe)
c.215A>T (p.Tyr72Phe)
c.200A>T (p.Tyr67Phe)
c.122A>T (p.Tyr41Phe)
17g.28529153C>ACA398323123FOXN1c.759C>A (p.Tyr253Ter)
c.*1196-73044G>T (n.*1196-73044G>T)
c.816C>A (p.Tyr272Ter)
c.813C>A (p.Tyr271Ter)
c.795C>A (p.Tyr265Ter)
c.762C>A (p.Tyr254Ter)
c.294C>A (p.Tyr98Ter)
c.216C>A (p.Tyr72Ter)
c.201C>A (p.Tyr67Ter)
c.123C>A (p.Tyr41Ter)
17g.28529153C=CA2254345687FOXN1c.759C= (p.Tyr253=)
c.*1196-73044G= (n.*1196-73044G=)
c.816C= (p.Tyr272=)
c.813C= (p.Tyr271=)
c.795C= (p.Tyr265=)
c.762C= (p.Tyr254=)
c.294C= (p.Tyr98=)
c.216C= (p.Tyr72=)
c.201C= (p.Tyr67=)
c.123C= (p.Tyr41=)
17g.28529153C>GCA398323124FOXN1c.759C>G (p.Tyr253Ter)
c.*1196-73044G>C (n.*1196-73044G>C)
c.816C>G (p.Tyr272Ter)
c.813C>G (p.Tyr271Ter)
c.795C>G (p.Tyr265Ter)
c.762C>G (p.Tyr254Ter)
c.294C>G (p.Tyr98Ter)
c.216C>G (p.Tyr72Ter)
c.201C>G (p.Tyr67Ter)
c.123C>G (p.Tyr41Ter)
17g.28529153C>TCA8459334FOXN1c.759C>T (p.Tyr253=)
c.*1196-73044G>A (n.*1196-73044G>A)
c.816C>T (p.Tyr272=)
c.813C>T (p.Tyr271=)
c.795C>T (p.Tyr265=)
c.762C>T (p.Tyr254=)
c.294C>T (p.Tyr98=)
c.216C>T (p.Tyr72=)
c.201C>T (p.Tyr67=)
c.123C>T (p.Tyr41=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.28529154C>ACA398323129FOXN1c.760C>A (p.Gln254Lys)
c.*1196-73045G>T (n.*1196-73045G>T)
c.817C>A (p.Gln273Lys)
c.814C>A (p.Gln272Lys)
c.796C>A (p.Gln266Lys)
c.763C>A (p.Gln255Lys)
c.295C>A (p.Gln99Lys)
c.217C>A (p.Gln73Lys)
c.202C>A (p.Gln68Lys)
c.124C>A (p.Gln42Lys)
17g.28529154C>GCA398323126FOXN1c.760C>G (p.Gln254Glu)
c.*1196-73045G>C (n.*1196-73045G>C)
c.817C>G (p.Gln273Glu)
c.814C>G (p.Gln272Glu)
c.796C>G (p.Gln266Glu)
c.763C>G (p.Gln255Glu)
c.295C>G (p.Gln99Glu)
c.217C>G (p.Gln73Glu)
c.202C>G (p.Gln68Glu)
c.124C>G (p.Gln42Glu)
17g.28529154C>TCA398323127FOXN1c.760C>T (p.Gln254Ter)
c.*1196-73045G>A (n.*1196-73045G>A)
c.817C>T (p.Gln273Ter)
c.814C>T (p.Gln272Ter)
c.796C>T (p.Gln266Ter)
c.763C>T (p.Gln255Ter)
c.295C>T (p.Gln99Ter)
c.217C>T (p.Gln73Ter)
c.202C>T (p.Gln68Ter)
c.124C>T (p.Gln42Ter)
17g.28529155A>CCA398323131FOXN1c.761A>C (p.Gln254Pro)
c.*1196-73046T>G (n.*1196-73046T>G)
c.818A>C (p.Gln273Pro)
c.815A>C (p.Gln272Pro)
c.797A>C (p.Gln266Pro)
c.764A>C (p.Gln255Pro)
c.296A>C (p.Gln99Pro)
c.218A>C (p.Gln73Pro)
c.203A>C (p.Gln68Pro)
c.125A>C (p.Gln42Pro)
17g.28529155A>GCA398323132FOXN1c.761A>G (p.Gln254Arg)
c.*1196-73046T>C (n.*1196-73046T>C)
c.818A>G (p.Gln273Arg)
c.815A>G (p.Gln272Arg)
c.797A>G (p.Gln266Arg)
c.764A>G (p.Gln255Arg)
c.296A>G (p.Gln99Arg)
c.218A>G (p.Gln73Arg)
c.203A>G (p.Gln68Arg)
c.125A>G (p.Gln42Arg)
17g.28529155A>TCA398323134FOXN1c.761A>T (p.Gln254Leu)
c.*1196-73046T>A (n.*1196-73046T>A)
c.818A>T (p.Gln273Leu)
c.815A>T (p.Gln272Leu)
c.797A>T (p.Gln266Leu)
c.764A>T (p.Gln255Leu)
c.296A>T (p.Gln99Leu)
c.218A>T (p.Gln73Leu)
c.203A>T (p.Gln68Leu)
c.125A>T (p.Gln42Leu)
17g.28529156G>ACA499088141FOXN1c.762G>A (p.Gln254=)
c.*1196-73047C>T (n.*1196-73047C>T)
c.819G>A (p.Gln273=)
c.816G>A (p.Gln272=)
c.798G>A (p.Gln266=)
c.765G>A (p.Gln255=)
c.297G>A (p.Gln99=)
c.219G>A (p.Gln73=)
c.204G>A (p.Gln68=)
c.126G>A (p.Gln42=)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.28529156G>CCA398323136FOXN1c.762G>C (p.Gln254His)
c.*1196-73047C>G (n.*1196-73047C>G)
c.819G>C (p.Gln273His)
c.816G>C (p.Gln272His)
c.798G>C (p.Gln266His)
c.765G>C (p.Gln255His)
c.297G>C (p.Gln99His)
c.219G>C (p.Gln73His)
c.204G>C (p.Gln68His)
c.126G>C (p.Gln42His)
17g.28529156G=CA2254345688FOXN1c.762G= (p.Gln254=)
c.*1196-73047C= (n.*1196-73047C=)
c.819G= (p.Gln273=)
c.816G= (p.Gln272=)
c.798G= (p.Gln266=)
c.765G= (p.Gln255=)
c.297G= (p.Gln99=)
c.219G= (p.Gln73=)
c.204G= (p.Gln68=)
c.126G= (p.Gln42=)
17g.28529156G>TCA398323137FOXN1c.762G>T (p.Gln254His)
c.*1196-73047C>A (n.*1196-73047C>A)
c.819G>T (p.Gln273His)
c.816G>T (p.Gln272His)
c.798G>T (p.Gln266His)
c.765G>T (p.Gln255His)
c.297G>T (p.Gln99His)
c.219G>T (p.Gln73His)
c.204G>T (p.Gln68His)
c.126G>T (p.Gln42His)
17g.28529157C>ACA499088146FOXN1c.763C>A (p.Arg255=)
c.*1196-73048G>T (n.*1196-73048G>T)
c.820C>A (p.Arg274=)
c.817C>A (p.Arg273=)
c.799C>A (p.Arg267=)
c.766C>A (p.Arg256=)
c.298C>A (p.Arg100=)
c.220C>A (p.Arg74=)
c.205C>A (p.Arg69=)
c.127C>A (p.Arg43=)
ClinVar gnomAD v4
17g.28529157C=CA2254345689FOXN1c.763C= (p.Arg255=)
c.*1196-73048G= (n.*1196-73048G=)
c.820C= (p.Arg274=)
c.817C= (p.Arg273=)
c.799C= (p.Arg267=)
c.766C= (p.Arg256=)
c.298C= (p.Arg100=)
c.220C= (p.Arg74=)
c.205C= (p.Arg69=)
c.127C= (p.Arg43=)
17g.28529157C>GCA398323139FOXN1c.763C>G (p.Arg255Gly)
c.*1196-73048G>C (n.*1196-73048G>C)
c.820C>G (p.Arg274Gly)
c.817C>G (p.Arg273Gly)
c.799C>G (p.Arg267Gly)
c.766C>G (p.Arg256Gly)
c.298C>G (p.Arg100Gly)
c.220C>G (p.Arg74Gly)
c.205C>G (p.Arg69Gly)
c.127C>G (p.Arg43Gly)
17g.28529157C>TCA119892FOXN1c.763C>T (p.Arg255Ter)
c.*1196-73048G>A (n.*1196-73048G>A)
c.820C>T (p.Arg274Ter)
c.817C>T (p.Arg273Ter)
c.799C>T (p.Arg267Ter)
c.766C>T (p.Arg256Ter)
c.298C>T (p.Arg100Ter)
c.220C>T (p.Arg74Ter)
c.205C>T (p.Arg69Ter)
c.127C>T (p.Arg43Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched