Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.28529058A>G | CA2576207891 | FOXN1 | c.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) | |
17 | g.28529059C>T | CA2636835848 | FOXN1 | c.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 |
17 | g.28529061A= | CA2254345648 | FOXN1 | c.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=) | |
17 | g.28529061A>G | CA8459310 | FOXN1 | c.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 |
17 | g.28529063G= | CA2254345649 | FOXN1 | c.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=) | |
17 | g.28529063G>T | CA8459311 | FOXN1 | c.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 |
17 | g.28529064C>A | CA2576207892 | FOXN1 | c.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 |
17 | g.28529064C= | CA2254345650 | FOXN1 | c.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=) | |
17 | g.28529064C>T | CA8459312 | FOXN1 | c.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 |
17 | g.28529065A= | CA2254345651 | FOXN1 | c.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=) | |
17 | g.28529065A>C | CA8459313 | FOXN1 | c.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 |
17 | g.28529066A>G | CA2576207893 | FOXN1 | c.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) | |
17 | g.28529070C= | CA2254345652 | FOXN1 | c.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=) | |
17 | g.28529070C>T | CA8459314 | FOXN1 | c.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 |
17 | g.28529072C>G | CA2636835849 | FOXN1 | c.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 |
17 | g.28529074G>A | CA8459315 | FOXN1 | c.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 |
17 | g.28529074G= | CA2254345653 | FOXN1 | c.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=) | |
17 | g.28529074G>T | CA2636835850 | FOXN1 | c.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 |
17 | g.28529075C>A | CA2636835851 | FOXN1 | c.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 |
17 | g.28529075C= | CA2254345654 | FOXN1 | c.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=) | |
17 | g.28529075C>T | CA2254345655 | FOXN1 | c.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 |
17 | g.28529076C>T | CA2576207894 | FOXN1 | c.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 |
17 | g.28529077C>A | CA2809116962 | FOXN1 | c.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) | |
17 | g.28529077C>G | CA2636835852 | FOXN1 | c.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 |
17 | g.28529078C= | CA2254345656 | FOXN1 | c.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=) | |
17 | g.28529078C>T | CA8459316 | FOXN1 | c.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 |
17 | g.28529081T>C | CA2636835853 | FOXN1 | c.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 |
17 | g.28529083G>A | CA8459317 | FOXN1 | c.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 |
17 | g.28529083G= | CA2254345657 | FOXN1 | c.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=) | |
17 | g.28529083G>T | CA2809116963 | FOXN1 | c.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) | |
17 | g.28529085C>A | CA8459318 | FOXN1 | c.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 |
17 | g.28529085C= | CA2254345658 | FOXN1 | c.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=) | |
17 | g.28529085C>T | CA8459319 | FOXN1 | c.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 |
17 | g.28529086C>T | CA2636835854 | FOXN1 | c.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 |
17 | g.28529087T>C | CA2499223947 | FOXN1 | c.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 |
17 | g.28529088C>G | CA2636835855 | FOXN1 | c.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 |
17 | g.28529089C>T | CA2576207895 | FOXN1 | c.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 |
17 | g.28529097_28529153dup | CA2636835856 | FOXN1 | c.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 |
17 | g.28529091C= | CA2254345659 | FOXN1 | c.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=) | |
17 | g.28529091C>T | CA8459320 | FOXN1 | c.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 |
17 | g.28529092A>C | CA398322899 | FOXN1 | c.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) | |
17 | g.28529092A>G | CA398322901 | FOXN1 | c.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) | |
17 | g.28529092A>T | CA398322902 | FOXN1 | c.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) | |
17 | g.28529093G>A | CA398322904 | FOXN1 | c.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 |
17 | g.28529093G>C | CA398322905 | FOXN1 | c.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) | |
17 | g.28529093G>T | CA398322907 | FOXN1 | c.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) | |
17 | g.28529094T>A | CA398322912 | FOXN1 | c.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) | |
17 | g.28529094T>C | CA398322909 | FOXN1 | c.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 |
17 | g.28529094T>G | CA398322910 | FOXN1 | c.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 |
17 | g.28529094T= | CA2254345660 | FOXN1 | c.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=) | |
17 | g.28529095A>C | CA398322914 | FOXN1 | c.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) | |
17 | g.28529095A>G | CA398322916 | FOXN1 | c.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) | |
17 | g.28529095A>T | CA398322917 | FOXN1 | c.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) | |
17 | g.28529096C>A | CA398322919 | FOXN1 | c.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) | |
17 | g.28529096C= | CA2254345661 | FOXN1 | c.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=) | |
17 | g.28529096C>G | CA398322921 | FOXN1 | c.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) | |
17 | g.28529096C>T | CA499088046 | FOXN1 | c.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 |
17 | g.28529097T>A | CA398322922 | FOXN1 | c.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) | |
17 | g.28529097T>C | CA398322924 | FOXN1 | c.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 |
17 | g.28529097T>G | CA398322926 | FOXN1 | c.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) | |
17 | g.28529097T= | CA2254345662 | FOXN1 | c.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=) | |
17 | g.28529098C>A | CA398322928 | FOXN1 | c.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) | |
17 | g.28529098C= | CA2254345663 | FOXN1 | c.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=) | |
17 | g.28529098C>G | CA398322929 | FOXN1 | c.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) | |
17 | g.28529098C>T | CA8459321 | FOXN1 | c.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 |
17 | g.28529099G>A | CA8459322 | FOXN1 | c.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 |
17 | g.28529099G>C | CA499088049 | FOXN1 | c.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=) | |
17 | g.28529099G= | CA2254345664 | FOXN1 | c.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=) | |
17 | g.28529099G>T | CA499088050 | FOXN1 | c.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 |
17 | g.28529100C>A | CA398322932 | FOXN1 | c.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) | |
17 | g.28529100C= | CA2254345665 | FOXN1 | c.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=) | |
17 | g.28529100C>G | CA398322936 | FOXN1 | c.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) | |
17 | g.28529100C>T | CA398322934 | FOXN1 | c.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 |
17 | g.28529101C>A | CA398322938 | FOXN1 | c.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 |
17 | g.28529101C= | CA2254345666 | FOXN1 | c.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=) | |
17 | g.28529101C>G | CA398322941 | FOXN1 | c.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) | |
17 | g.28529101C>T | CA398322939 | FOXN1 | c.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) | |
17 | g.28529102A>C | CA499088054 | FOXN1 | c.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=) | |
17 | g.28529102A>G | CA499088056 | FOXN1 | c.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 |
17 | g.28529102A>T | CA499088055 | FOXN1 | c.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=) | |
17 | g.28529103G>A | CA8459323 | FOXN1 | c.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 |
17 | g.28529103G>C | CA398322944 | FOXN1 | c.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 |
17 | g.28529103G= | CA2254345667 | FOXN1 | c.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=) | |
17 | g.28529103G>T | CA398322945 | FOXN1 | c.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) | |
17 | g.28529104G>A | CA398322946 | FOXN1 | c.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) | |
17 | g.28529104G>C | CA398322947 | FOXN1 | c.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 |
17 | g.28529104G>T | CA398322949 | FOXN1 | c.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) | |
17 | g.28529105T>A | CA499088057 | FOXN1 | c.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=) | |
17 | g.28529105T>C | CA499088058 | FOXN1 | c.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 |
17 | g.28529105T>G | CA499088060 | FOXN1 | c.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=) | |
17 | g.28529106G>A | CA398322951 | FOXN1 | c.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 |
17 | g.28529106G>C | CA398322953 | FOXN1 | c.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) | |
17 | g.28529106G>T | CA398322954 | FOXN1 | c.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) | |
17 | g.28529107G>A | CA8459324 | FOXN1 | c.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 |
17 | g.28529107G>C | CA398322956 | FOXN1 | c.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) | |
17 | g.28529107G= | CA2254345668 | FOXN1 | c.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=) | |
17 | g.28529107G>T | CA398322957 | FOXN1 | c.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) | |
17 | g.28529108T>A | CA499088064 | FOXN1 | c.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=) | |
17 | g.28529108T>C | CA8459325 | FOXN1 | c.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 |
17 | g.28529108T>G | CA499088065 | FOXN1 | c.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=) | |
17 | g.28529108T= | CA2254345669 | FOXN1 | c.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=) | |
17 | g.28529109G>A | CA398322960 | FOXN1 | c.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 |
17 | g.28529109G>C | CA398322961 | FOXN1 | c.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) | |
17 | g.28529109G= | CA2254345670 | FOXN1 | c.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=) | |
17 | g.28529109G>T | CA398322964 | FOXN1 | c.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) | |
17 | g.28529110G>A | CA8459326 | FOXN1 | c.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 |
17 | g.28529110G>C | CA398322966 | FOXN1 | c.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) | |
17 | g.28529110G= | CA2254345671 | FOXN1 | c.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=) | |
17 | g.28529110G>T | CA398322968 | FOXN1 | c.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) | |
17 | g.28529111C>A | CA499088066 | FOXN1 | c.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=) | |
17 | g.28529111C>G | CA499088067 | FOXN1 | c.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=) | |
17 | g.28529111C>T | CA499088068 | FOXN1 | c.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=) | |
17 | g.28529112A>C | CA398322970 | FOXN1 | c.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) | |
17 | g.28529112A>G | CA398322971 | FOXN1 | c.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) | |
17 | g.28529112A>T | CA398322972 | FOXN1 | c.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) | |
17 | g.28529113G>A | CA398322974 | FOXN1 | c.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) | |
17 | g.28529113G>C | CA398322976 | FOXN1 | c.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) | |
17 | g.28529113G>T | CA398322978 | FOXN1 | c.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) | |
17 | g.28529114C>A | CA398322980 | FOXN1 | c.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 |
17 | g.28529114C>G | CA398322979 | FOXN1 | c.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) | |
17 | g.28529114C>T | CA499088071 | FOXN1 | c.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=) | |
17 | g.28529115T>A | CA398322981 | FOXN1 | c.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) | |
17 | g.28529115T>C | CA8459327 | FOXN1 | c.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 |
17 | g.28529115T>G | CA398322982 | FOXN1 | c.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) | |
17 | g.28529115T= | CA2254345672 | FOXN1 | c.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=) | |
17 | g.28529116A= | CA2254345673 | FOXN1 | c.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=) | |
17 | g.28529116A>C | CA398322985 | FOXN1 | c.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) | |
17 | g.28529116A>G | CA398322986 | FOXN1 | c.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 |
17 | g.28529116A>T | CA398322988 | FOXN1 | c.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) | |
17 | g.28529117C>A | CA398322991 | FOXN1 | c.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 |
17 | g.28529117C>G | CA398322989 | FOXN1 | c.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 |
17 | g.28529117C>T | CA499088076 | FOXN1 | c.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 |
17 | g.28529118C>A | CA398322993 | FOXN1 | c.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) | |
17 | g.28529118C= | CA2254345674 | FOXN1 | c.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=) | |
17 | g.28529118C>G | CA398322995 | FOXN1 | c.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) | |
17 | g.28529118C>T | CA8459328 | FOXN1 | c.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 |
17 | g.28529119C>A | CA398322996 | FOXN1 | c.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) | |
17 | g.28529119C= | CA2254345675 | FOXN1 | c.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=) | |
17 | g.28529119C>G | CA8459329 | FOXN1 | c.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 |
17 | g.28529119C>T | CA398322998 | FOXN1 | c.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) | |
17 | g.28529120C>A | CA499088079 | FOXN1 | c.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=) | |
17 | g.28529120C= | CA2254345676 | FOXN1 | c.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=) | |
17 | g.28529120C>G | CA499088080 | FOXN1 | c.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=) | |
17 | g.28529120C>T | CA499088081 | FOXN1 | c.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=) | |
17 | g.28529121A>C | CA398323000 | FOXN1 | c.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) | |
17 | g.28529121A>G | CA398323003 | FOXN1 | c.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) | |
17 | g.28529121A>T | CA398323001 | FOXN1 | c.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) | |
17 | g.28529122_28529123dup | CA915949636 | FOXN1 | c.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 |
17 | g.28529121_28529130delinsATACCCTACC | CA2254345677 | FOXN1 | c.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=) | |
17 | g.28529122T>A | CA398323005 | FOXN1 | c.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) | |
17 | g.28529122T>C | CA398323007 | FOXN1 | c.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 |
17 | g.28529122T>G | CA398323009 | FOXN1 | c.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) | |
17 | g.28529122T= | CA2254345678 | FOXN1 | c.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=) | |
17 | g.28529123_28529131del | CA8459330 | FOXN1 | c.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 |
17 | g.28529123A>C | CA499088084 | FOXN1 | c.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=) | |
17 | g.28529123A>G | CA398323011 | FOXN1 | c.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) | |
17 | g.28529123A>T | CA499088083 | FOXN1 | c.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=) | |
17 | g.28529124C>A | CA398323013 | FOXN1 | c.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 |
17 | g.28529124C= | CA2254345679 | FOXN1 | c.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=) | |
17 | g.28529124C>G | CA398323015 | FOXN1 | c.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) | |
17 | g.28529124C>T | CA398323016 | FOXN1 | c.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 |
17 | g.28529125C>A | CA398323018 | FOXN1 | c.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) | |
17 | g.28529125C>G | CA398323019 | FOXN1 | c.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) | |
17 | g.28529125C>T | CA398323021 | FOXN1 | c.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 |
17 | g.28529126C>A | CA499088088 | FOXN1 | c.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=) | |
17 | g.28529126C>G | CA499088089 | FOXN1 | c.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=) | |
17 | g.28529126C>T | CA499088090 | FOXN1 | c.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=) | |
17 | g.28529127T>A | CA398323024 | FOXN1 | c.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) | |
17 | g.28529127T>C | CA398323026 | FOXN1 | c.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 |
17 | g.28529127T>G | CA398323023 | FOXN1 | c.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) | |
17 | g.28529127T= | CA2254345680 | FOXN1 | c.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=) | |
17 | g.28529128A>C | CA398323030 | FOXN1 | c.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 |
17 | g.28529128A>G | CA398323028 | FOXN1 | c.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) | |
17 | g.28529128A>T | CA398323031 | FOXN1 | c.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) | |
17 | g.28529129C>A | CA398323033 | FOXN1 | c.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) | |
17 | g.28529129C= | CA2254345681 | FOXN1 | c.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=) | |
17 | g.28529129C>G | CA398323034 | FOXN1 | c.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) | |
17 | g.28529129C>T | CA8459331 | FOXN1 | c.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 |
17 | g.28529130C>A | CA398323037 | FOXN1 | c.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) | |
17 | g.28529130C>G | CA398323039 | FOXN1 | c.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) | |
17 | g.28529130C>T | CA499088091 | FOXN1 | c.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=) | |
17 | g.28529131T>A | CA398323040 | FOXN1 | c.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) | |
17 | g.28529131T>C | CA8459332 | FOXN1 | c.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 |
17 | g.28529131T>G | CA398323043 | FOXN1 | c.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) | |
17 | g.28529131T= | CA2254345682 | FOXN1 | c.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=) | |
17 | g.28529132G>A | CA499088093 | FOXN1 | c.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=) | |
17 | g.28529132G>C | CA499088094 | FOXN1 | c.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=) | |
17 | g.28529132G>T | CA499088092 | FOXN1 | c.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 |
17 | g.28529133G>A | CA398323044 | FOXN1 | c.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) | |
17 | g.28529133G>C | CA398323046 | FOXN1 | c.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) | |
17 | g.28529133G>T | CA398323048 | FOXN1 | c.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) | |
17 | g.28529134G>A | CA398323053 | FOXN1 | c.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) | |
17 | g.28529134G>C | CA398323051 | FOXN1 | c.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) | |
17 | g.28529134G>T | CA398323050 | FOXN1 | c.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 |
17 | g.28529135C>A | CA499088099 | FOXN1 | c.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 |
17 | g.28529135C>G | CA499088100 | FOXN1 | c.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 |
17 | g.28529135C>T | CA499088102 | FOXN1 | c.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=) | |
17 | g.28529136T>A | CA398323055 | FOXN1 | c.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) | |
17 | g.28529136T>C | CA398323056 | FOXN1 | c.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) | |
17 | g.28529136T>G | CA398323057 | FOXN1 | c.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) | |
17 | g.28529137C>A | CA398323059 | FOXN1 | c.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) | |
17 | g.28529137C>G | CA398323060 | FOXN1 | c.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 |
17 | g.28529137C>T | CA398323062 | FOXN1 | c.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 |
17 | g.28529138dup | CA2636835857 | FOXN1 | c.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 |
17 | g.28529138C>A | CA499088104 | FOXN1 | c.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=) | |
17 | g.28529138C= | CA2254345683 | FOXN1 | c.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=) | |
17 | g.28529138C>G | CA499088105 | FOXN1 | c.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=) | |
17 | g.28529138C>T | CA499088107 | FOXN1 | c.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 |
17 | g.28529139T>A | CA398323063 | FOXN1 | c.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 |
17 | g.28529139T>C | CA398323065 | FOXN1 | c.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) | |
17 | g.28529139T>G | CA398323066 | FOXN1 | c.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) | |
17 | g.28529140C>A | CA398323068 | FOXN1 | c.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) | |
17 | g.28529140C>G | CA398323069 | FOXN1 | c.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) | |
17 | g.28529140C>T | CA398323070 | FOXN1 | c.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) | |
17 | g.28529141A>C | CA499088115 | FOXN1 | c.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 |
17 | g.28529141A>G | CA499088116 | FOXN1 | c.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=) | |
17 | g.28529141A>T | CA499088117 | FOXN1 | c.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=) | |
17 | g.28529142C>A | CA398323075 | FOXN1 | c.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) | |
17 | g.28529142C>G | CA398323074 | FOXN1 | c.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) | |
17 | g.28529142C>T | CA398323073 | FOXN1 | c.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 |
17 | g.28529143A>C | CA398323077 | FOXN1 | c.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) | |
17 | g.28529143A>G | CA398323079 | FOXN1 | c.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) | |
17 | g.28529143A>T | CA398323081 | FOXN1 | c.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) | |
17 | g.28529144C>A | CA398323082 | FOXN1 | c.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) | |
17 | g.28529144C= | CA2254345684 | FOXN1 | c.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=) | |
17 | g.28529144C>G | CA398323084 | FOXN1 | c.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 |
17 | g.28529144C>T | CA8459333 | FOXN1 | c.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 |
17 | g.28529145T>A | CA398323089 | FOXN1 | c.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) | |
17 | g.28529145T>C | CA398323086 | FOXN1 | c.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) | |
17 | g.28529145T>G | CA398323088 | FOXN1 | c.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) | |
17 | g.28529146A>C | CA398323090 | FOXN1 | c.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) | |
17 | g.28529146A>G | CA398323092 | FOXN1 | c.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) | |
17 | g.28529146A>T | CA398323094 | FOXN1 | c.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) | |
17 | g.28529147T>A | CA398323095 | FOXN1 | c.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) | |
17 | g.28529147T>C | CA499088127 | FOXN1 | c.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=) | |
17 | g.28529147T>G | CA398323097 | FOXN1 | c.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) | |
17 | g.28529148C>A | CA398323098 | FOXN1 | c.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) | |
17 | g.28529148C>G | CA398323102 | FOXN1 | c.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) | |
17 | g.28529148C>T | CA398323100 | FOXN1 | c.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 |
17 | g.28529149A= | CA2254345685 | FOXN1 | c.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=) | |
17 | g.28529149A>C | CA398323104 | FOXN1 | c.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 |
17 | g.28529149A>G | CA398323105 | FOXN1 | c.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 |
17 | g.28529149A>T | CA398323107 | FOXN1 | c.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) | |
17 | g.28529150G>A | CA499088133 | FOXN1 | c.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 |
17 | g.28529150G>C | CA398323109 | FOXN1 | c.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) | |
17 | g.28529150G= | CA2254345686 | FOXN1 | c.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=) | |
17 | g.28529150G>T | CA398323110 | FOXN1 | c.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) | |
17 | g.28529151T>A | CA398323112 | FOXN1 | c.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) | |
17 | g.28529151T>C | CA398323113 | FOXN1 | c.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) | |
17 | g.28529151T>G | CA398323115 | FOXN1 | c.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) | |
17 | g.28529152A>C | CA398323117 | FOXN1 | c.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) | |
17 | g.28529152A>G | CA398323119 | FOXN1 | c.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 |
17 | g.28529152A>T | CA398323120 | FOXN1 | c.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) | |
17 | g.28529153C>A | CA398323123 | FOXN1 | c.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) | |
17 | g.28529153C= | CA2254345687 | FOXN1 | c.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=) | |
17 | g.28529153C>G | CA398323124 | FOXN1 | c.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) | |
17 | g.28529153C>T | CA8459334 | FOXN1 | c.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 |
17 | g.28529154C>A | CA398323129 | FOXN1 | c.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) | |
17 | g.28529154C>G | CA398323126 | FOXN1 | c.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) | |
17 | g.28529154C>T | CA398323127 | FOXN1 | c.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) | |
17 | g.28529155A>C | CA398323131 | FOXN1 | c.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) | |
17 | g.28529155A>G | CA398323132 | FOXN1 | c.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) | |
17 | g.28529155A>T | CA398323134 | FOXN1 | c.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) | |
17 | g.28529156G>A | CA499088141 | FOXN1 | c.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 |
17 | g.28529156G>C | CA398323136 | FOXN1 | c.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) | |
17 | g.28529156G= | CA2254345688 | FOXN1 | c.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=) | |
17 | g.28529156G>T | CA398323137 | FOXN1 | c.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) | |
17 | g.28529157C>A | CA499088146 | FOXN1 | c.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 |
17 | g.28529157C= | CA2254345689 | FOXN1 | c.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=) | |
17 | g.28529157C>G | CA398323139 | FOXN1 | c.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) | |
17 | g.28529157C>T | CA119892 | FOXN1 | c.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 |