| 3 | g.138945277_138946050delinsGCGGCTGCAGCAGCTGCGGCTGCAGCCGCGGGCCCCGGTAGCCCTGGCGCGGCCGCTGTGGTCAAGGGGCTGGCGGGCCCGGCCGCCTCGTACGGGCCGTACACACGCGTGCAGAGCATGGCGCTGCCCCCCGGCGTAGTGAACTCGTACAATGGCCTGGGAGGCCCGCCGGCCGCACCCCCGCCTCCGCCGCACCCCCACCCGCATCCGCACGCACACCATCTGCACGCGGCCGCCGCACCGCCGCCTGCCCCACCGCACCACGGGGCCGCCGCGCCGCCGCCGGGCCAGCTCAGCCCTGCCAGCCCAGCCACCGCCGCGCCCCCGGCGCCCGCGCCCACCAGTGCGCCGGGCCTGCAGTTCGCTTGTGCCCGGCAGCCCGAGCTCGCCATGATGCATTGCTCTTACTGGGACCACGACAGCAAGACCGGCGCGCTGCATTCGCGCCTCGATCTCTGAGAGCCCACCGCATGCCGGTGCAGACGGATGCGAGGATGCAGGGACGCGCGACGCCGGCCCCGGTCGCAGCCGACGACGCCGCCGCCAGCCTGACCTCACACCCTCTGGGCCCGCCTCTGGAGCCAGCGCCCAGGGTCCCTCTGTGCTTTTTCGCTTTCCTAAGCTCCTGTCGCTCCTCTTTGTCCCCTCAGTTTATGTCCTCCTGTGCTCACCTCCCTGACCTCTGTGACCTTGCACTCCCCTGGCCTGAAGCTGCCTCTCTGCGCGCTTTCTACTGGGCTCGTCTCTTTCCGGAGCCCCAGCGTCTCCTGCCCA | CA2580068839 | FOXL2 | c.673_*315delinsTGGGCAGGAGACGCTGGGGCTCCGGAAAGAGACGAGCCCAGTAGAAAGCGCGCAGAGAGGCAGCTTCAGGCCAGGGGAGTGCAAGGTCACAGAGGTCAGGGAGGTGAGCACAGGAGGACATAAACTGAGGGGACAAAGAGGAGCGACAGGAGCTTAGGAAAGCGAAAAAGCACAGAGGGACCCTGGGCGCTGGCTCCAGAGGCGGGCCCAGAGGGTGTGAGGTCAGGCTGGCGGCGGCGTCGTCGGCTGCGACCGGGGCCGGCGTCGCGCGTCCCTGCATCCTCGCATCCGTCTGCACCGGCATGCGGTGGGCTCTCAGAGATCGAGGCGCGAATGCAGCGCGCCGGTCTTGCTGTCGTGGTCCCAGTAAGAGCAATGCATCATGGCGAGCTCGGGCTGCCGGGCACAAGCGAACTGCAGGCCCGGCGCACTGGTGGGCGCGGGCGCCGGGGGCGCGGCGGTGGCTGGGCTGGCAGGGCTGAGCTGGCCCGGCGGCGGCGCGGCGGCCCCGTGGTGCGGTGGGGCAGGCGGCGGTGCGGCGGCCGCGTGCAGATGGTGTGCGTGCGGATGCGGGTGGGGGTGCGGCGGAGGCGGGGGTGCGGCCGGCGGGCCTCCCAGGCCATTGTACGAGTTCACTACGCCGGGGGGCAGCGCCATGCTCTGCACGCGTGTGTACGGCCCGTACGAGGCGGCCGGGCCCGCCAGCCCCTTGACCACAGCGGCCGCGCCAGGGCTACCGGGGCCCGCGGCTGCAGCCGCAGCTGCTGCAGCCGC (n.[c.673_*315delinsTGGGCAGGAGACGCTGGGGCTCCGGAAAGAGACGAGCCCAGTAGAAAGCGCGCAGAGAGGCAGCTTCAGGCCAGGGGAGTGCAAGGTCACAGAGGTCAGGGAGGTGAGCACAGGAGGACATAAACTGAGGGGACAAAGAGGAGCGACAGGAGCTTAGGAAAGCGAAAAAGCACAGAGGGACCCTGGGCGCTGGCTCCAGAGGCGGGCCCAGAGGGTGTGAGGTCAGGCTGGCGGCGGCGTCGTCGGCTGCGACCGGGGCCGGCGTCGCGCGTCCCTGCATCCTCGCATCCGTCTGCACCGGCATGCGGTGGGCTCTCAGAGATCGAGGCGCGAATGCAGCGCGCCGGTCTTGCTGTCGTGGTCCCAGTAAGAGCAATGCATCATGGCGAGCTCGGGCTGCCGGGCACAAGCGAACTGCAGGCCCGGCGCACTGGTGGGCGCGGGCGCCGGGGGCGCGGCGGTGGCTGGGCTGGCAGGGCTGAGCTGGCCCGGCGGCGGCGCGGCGGCCCCGTGGTGCGGTGGGGCAGGCGGCGGTGCGGCGGCCGCGTGCAGATGGTGTGCGTGCGGATGCGGGTGGGGGTGCGGCGGAGGCGGGGGTGCGGCCGGCGGGCCTCCCAGGCCATTGTACGAGTTCACTACGCCGGGGGGCAGCGCCATGCTCTGCACGCGTGTGTACGGCCCGTACGAGGCGGCCGGGCCCGCCAGCCCCTTGACCACAGCGGCCGCGCCAGGGCTACCGGGGCCCGCGGCTGCAGCCGCAGCTGCTGCAGCCGC;Ala225TrpfsTer41])
| ClinVar |
| 3 | g.138945883_138945972del | CA2667925573 | FOXL2 | c.759_848del (p.Ser254_Ala283del)
| gnomAD v4 |
| 3 | g.138945956_138946050dup | CA913189434 | FOXL2 | c.675_769dup (p.Pro257ArgfsTer46)
| ClinVar dbSNP |
| 3 | g.138945967_138945974del | CA2580068845 | FOXL2 | c.752_759del (p.Pro251LeufsTer?)
| ClinVar |
| 3 | g.138945967_138945978del | CA2704124030 | FOXL2 | c.747_758del (p.Gly250_Ala253del)
| dbSNP |
| 3 | g.138945968G>A | CA354703809 | FOXL2 | c.755C>T (p.Ala252Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.138945969C>A | CA354703816 | FOXL2 | c.754G>T (p.Ala252Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.138945970C>A | CA2639730 | FOXL2 | c.753G>T (p.Pro251=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.138945970C>T | CA436094062 | FOXL2 | c.753G>A (p.Pro251=)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.138945973del | CA2667925934 | FOXL2 | c.752del (p.Pro251ArgfsTer20)
| gnomAD v4 |
| 3 | g.138945979_138946023del | CA2667925935 | FOXL2 | c.708_752del (p.Gly237_Pro251del)
| gnomAD v4 |
| 3 | g.138945972G>A | CA354703842 | FOXL2 | c.751C>T (p.Pro251Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.138945973_138945975delinsGCC | CA1405402264 | FOXL2 | c.748_750delinsGGC (p.Gly250=)
| |
| 3 | g.138945974C>A | CA354703854 | FOXL2 | c.749G>T (p.Gly250Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.138945975_138945976del | CA10654867 | FOXL2 | c.748_749del (p.Gly250ProfsTer?)
| ClinVar dbSNP |
| 3 | g.138945976C>A | CA436094071 | FOXL2 | c.747G>T (p.Ala249=)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.138945976C>T | CA2639731 | FOXL2 | c.747G>A (p.Ala249=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.138945977G>C | CA2639732 | FOXL2 | c.746C>G (p.Ala249Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.138945978C>T | CA354703883 | FOXL2 | c.745G>A (p.Ala249Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
