3 | g.138945277_138946050delinsGCGGCTGCAGCAGCTGCGGCTGCAGCCGCGGGCCCCGGTAGCCCTGGCGCGGCCGCTGTGGTCAAGGGGCTGGCGGGCCCGGCCGCCTCGTACGGGCCGTACACACGCGTGCAGAGCATGGCGCTGCCCCCCGGCGTAGTGAACTCGTACAATGGCCTGGGAGGCCCGCCGGCCGCACCCCCGCCTCCGCCGCACCCCCACCCGCATCCGCACGCACACCATCTGCACGCGGCCGCCGCACCGCCGCCTGCCCCACCGCACCACGGGGCCGCCGCGCCGCCGCCGGGCCAGCTCAGCCCTGCCAGCCCAGCCACCGCCGCGCCCCCGGCGCCCGCGCCCACCAGTGCGCCGGGCCTGCAGTTCGCTTGTGCCCGGCAGCCCGAGCTCGCCATGATGCATTGCTCTTACTGGGACCACGACAGCAAGACCGGCGCGCTGCATTCGCGCCTCGATCTCTGAGAGCCCACCGCATGCCGGTGCAGACGGATGCGAGGATGCAGGGACGCGCGACGCCGGCCCCGGTCGCAGCCGACGACGCCGCCGCCAGCCTGACCTCACACCCTCTGGGCCCGCCTCTGGAGCCAGCGCCCAGGGTCCCTCTGTGCTTTTTCGCTTTCCTAAGCTCCTGTCGCTCCTCTTTGTCCCCTCAGTTTATGTCCTCCTGTGCTCACCTCCCTGACCTCTGTGACCTTGCACTCCCCTGGCCTGAAGCTGCCTCTCTGCGCGCTTTCTACTGGGCTCGTCTCTTTCCGGAGCCCCAGCGTCTCCTGCCCA | CA2580068839 | FOXL2 | c.673_*315delinsTGGGCAGGAGACGCTGGGGCTCCGGAAAGAGACGAGCCCAGTAGAAAGCGCGCAGAGAGGCAGCTTCAGGCCAGGGGAGTGCAAGGTCACAGAGGTCAGGGAGGTGAGCACAGGAGGACATAAACTGAGGGGACAAAGAGGAGCGACAGGAGCTTAGGAAAGCGAAAAAGCACAGAGGGACCCTGGGCGCTGGCTCCAGAGGCGGGCCCAGAGGGTGTGAGGTCAGGCTGGCGGCGGCGTCGTCGGCTGCGACCGGGGCCGGCGTCGCGCGTCCCTGCATCCTCGCATCCGTCTGCACCGGCATGCGGTGGGCTCTCAGAGATCGAGGCGCGAATGCAGCGCGCCGGTCTTGCTGTCGTGGTCCCAGTAAGAGCAATGCATCATGGCGAGCTCGGGCTGCCGGGCACAAGCGAACTGCAGGCCCGGCGCACTGGTGGGCGCGGGCGCCGGGGGCGCGGCGGTGGCTGGGCTGGCAGGGCTGAGCTGGCCCGGCGGCGGCGCGGCGGCCCCGTGGTGCGGTGGGGCAGGCGGCGGTGCGGCGGCCGCGTGCAGATGGTGTGCGTGCGGATGCGGGTGGGGGTGCGGCGGAGGCGGGGGTGCGGCCGGCGGGCCTCCCAGGCCATTGTACGAGTTCACTACGCCGGGGGGCAGCGCCATGCTCTGCACGCGTGTGTACGGCCCGTACGAGGCGGCCGGGCCCGCCAGCCCCTTGACCACAGCGGCCGCGCCAGGGCTACCGGGGCCCGCGGCTGCAGCCGCAGCTGCTGCAGCCGC (n.[c.673_*315delinsTGGGCAGGAGACGCTGGGGCTCCGGAAAGAGACGAGCCCAGTAGAAAGCGCGCAGAGAGGCAGCTTCAGGCCAGGGGAGTGCAAGGTCACAGAGGTCAGGGAGGTGAGCACAGGAGGACATAAACTGAGGGGACAAAGAGGAGCGACAGGAGCTTAGGAAAGCGAAAAAGCACAGAGGGACCCTGGGCGCTGGCTCCAGAGGCGGGCCCAGAGGGTGTGAGGTCAGGCTGGCGGCGGCGTCGTCGGCTGCGACCGGGGCCGGCGTCGCGCGTCCCTGCATCCTCGCATCCGTCTGCACCGGCATGCGGTGGGCTCTCAGAGATCGAGGCGCGAATGCAGCGCGCCGGTCTTGCTGTCGTGGTCCCAGTAAGAGCAATGCATCATGGCGAGCTCGGGCTGCCGGGCACAAGCGAACTGCAGGCCCGGCGCACTGGTGGGCGCGGGCGCCGGGGGCGCGGCGGTGGCTGGGCTGGCAGGGCTGAGCTGGCCCGGCGGCGGCGCGGCGGCCCCGTGGTGCGGTGGGGCAGGCGGCGGTGCGGCGGCCGCGTGCAGATGGTGTGCGTGCGGATGCGGGTGGGGGTGCGGCGGAGGCGGGGGTGCGGCCGGCGGGCCTCCCAGGCCATTGTACGAGTTCACTACGCCGGGGGGCAGCGCCATGCTCTGCACGCGTGTGTACGGCCCGTACGAGGCGGCCGGGCCCGCCAGCCCCTTGACCACAGCGGCCGCGCCAGGGCTACCGGGGCCCGCGGCTGCAGCCGCAGCTGCTGCAGCCGC;Ala225TrpfsTer41])
| ClinVar |
3 | g.138945819_138945881del | CA2758614458 | FOXL2 | c.843_905del (p.Ala282_Ala302del)
| |
3 | g.138945851_138945883delinsTGGGGGTGCGGCGGAGGCGGGGGTGCGGCCGGC | CA1405402196 | FOXL2 | c.840_872delinsGCCGGCCGCACCCCCGCCTCCGCCGCACCCCCA (p.Pro280=)
| |
3 | g.138945863_138945879dup | CA212820 | FOXL2 | c.855_871dup (p.His291ArgfsTer?)
| ClinVar dbSNP gnomAD v4 |
3 | g.138945863_138945879del | CA212819 | FOXL2 | c.855_871del (p.Pro287AlafsTer?)
| ClinVar dbSNP gnomAD v4 |
3 | g.138945855_138945886del | CA10654861 | FOXL2 | c.840_871del (p.Ala283SerfsTer?)
| ClinVar dbSNP |
3 | g.138945859_138945881dup | CA347075 | FOXL2 | c.843_865dup (p.His289ArgfsTer?)
| ClinVar dbSNP |
3 | g.138945865_138945881dup | CA346063 | FOXL2 | c.843_859dup (p.Pro287ArgfsTer?)
| ClinVar dbSNP gnomAD v4 |
3 | g.138945866_138945882dup | CA347074 | FOXL2 | c.841_857dup (p.Pro287ArgfsTer?)
| ClinVar dbSNP |
3 | g.138945868_138945885del | CA2667925534 | FOXL2 | c.840_857del (p.Pro281_Pro286del)
| gnomAD v4 |
3 | g.138945872_138945886del | CA2758614459 | FOXL2 | c.843_857del (p.Ala282_Pro286del)
| |
3 | g.138945872_138945878del | CA2704122862 | FOXL2 | c.847_853del (p.Ala283ArgfsTer?)
| dbSNP |
3 | g.138945874_138945884dup | CA2697556890 | FOXL2 | c.840_850dup (p.Pro284ArgfsTer?)
| ClinVar |
3 | g.138945883_138945972del | CA2667925573 | FOXL2 | c.759_848del (p.Ser254_Ala283del)
| gnomAD v4 |
3 | g.138945881G>A | CA2639715 | FOXL2 | c.842C>T (p.Pro281Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.138945881_138945882insA | CA913189432 | FOXL2 | c.841_842insT (p.Pro281LeufsTer?)
| ClinVar dbSNP |
3 | g.138945882_138945883insA | CA1054107836 | FOXL2 | c.840_841insT (p.Pro281SerfsTer?)
| gnomAD v3 gnomAD v4 |
3 | g.138945883C>A | CA436094230 | FOXL2 | c.840G>T (p.Pro280=)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.138945883C>G | CA436094231 | FOXL2 | c.840G>C (p.Pro280=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.138945884G>A | CA354703059 | FOXL2 | c.839C>T (p.Pro280Leu)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.138945884G>C | CA354703070 | FOXL2 | c.839C>G (p.Pro280Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.138945884G>T | CA2639716 | FOXL2 | c.839C>A (p.Pro280Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.138945886del | CA2577918193 | FOXL2 | c.839del (p.Pro280ArgfsTer?)
| |