3 | g.138945277_138946050delinsGCGGCTGCAGCAGCTGCGGCTGCAGCCGCGGGCCCCGGTAGCCCTGGCGCGGCCGCTGTGGTCAAGGGGCTGGCGGGCCCGGCCGCCTCGTACGGGCCGTACACACGCGTGCAGAGCATGGCGCTGCCCCCCGGCGTAGTGAACTCGTACAATGGCCTGGGAGGCCCGCCGGCCGCACCCCCGCCTCCGCCGCACCCCCACCCGCATCCGCACGCACACCATCTGCACGCGGCCGCCGCACCGCCGCCTGCCCCACCGCACCACGGGGCCGCCGCGCCGCCGCCGGGCCAGCTCAGCCCTGCCAGCCCAGCCACCGCCGCGCCCCCGGCGCCCGCGCCCACCAGTGCGCCGGGCCTGCAGTTCGCTTGTGCCCGGCAGCCCGAGCTCGCCATGATGCATTGCTCTTACTGGGACCACGACAGCAAGACCGGCGCGCTGCATTCGCGCCTCGATCTCTGAGAGCCCACCGCATGCCGGTGCAGACGGATGCGAGGATGCAGGGACGCGCGACGCCGGCCCCGGTCGCAGCCGACGACGCCGCCGCCAGCCTGACCTCACACCCTCTGGGCCCGCCTCTGGAGCCAGCGCCCAGGGTCCCTCTGTGCTTTTTCGCTTTCCTAAGCTCCTGTCGCTCCTCTTTGTCCCCTCAGTTTATGTCCTCCTGTGCTCACCTCCCTGACCTCTGTGACCTTGCACTCCCCTGGCCTGAAGCTGCCTCTCTGCGCGCTTTCTACTGGGCTCGTCTCTTTCCGGAGCCCCAGCGTCTCCTGCCCA | CA2580068839 | FOXL2 | c.673_*315delinsTGGGCAGGAGACGCTGGGGCTCCGGAAAGAGACGAGCCCAGTAGAAAGCGCGCAGAGAGGCAGCTTCAGGCCAGGGGAGTGCAAGGTCACAGAGGTCAGGGAGGTGAGCACAGGAGGACATAAACTGAGGGGACAAAGAGGAGCGACAGGAGCTTAGGAAAGCGAAAAAGCACAGAGGGACCCTGGGCGCTGGCTCCAGAGGCGGGCCCAGAGGGTGTGAGGTCAGGCTGGCGGCGGCGTCGTCGGCTGCGACCGGGGCCGGCGTCGCGCGTCCCTGCATCCTCGCATCCGTCTGCACCGGCATGCGGTGGGCTCTCAGAGATCGAGGCGCGAATGCAGCGCGCCGGTCTTGCTGTCGTGGTCCCAGTAAGAGCAATGCATCATGGCGAGCTCGGGCTGCCGGGCACAAGCGAACTGCAGGCCCGGCGCACTGGTGGGCGCGGGCGCCGGGGGCGCGGCGGTGGCTGGGCTGGCAGGGCTGAGCTGGCCCGGCGGCGGCGCGGCGGCCCCGTGGTGCGGTGGGGCAGGCGGCGGTGCGGCGGCCGCGTGCAGATGGTGTGCGTGCGGATGCGGGTGGGGGTGCGGCGGAGGCGGGGGTGCGGCCGGCGGGCCTCCCAGGCCATTGTACGAGTTCACTACGCCGGGGGGCAGCGCCATGCTCTGCACGCGTGTGTACGGCCCGTACGAGGCGGCCGGGCCCGCCAGCCCCTTGACCACAGCGGCCGCGCCAGGGCTACCGGGGCCCGCGGCTGCAGCCGCAGCTGCTGCAGCCGC (n.[c.673_*315delinsTGGGCAGGAGACGCTGGGGCTCCGGAAAGAGACGAGCCCAGTAGAAAGCGCGCAGAGAGGCAGCTTCAGGCCAGGGGAGTGCAAGGTCACAGAGGTCAGGGAGGTGAGCACAGGAGGACATAAACTGAGGGGACAAAGAGGAGCGACAGGAGCTTAGGAAAGCGAAAAAGCACAGAGGGACCCTGGGCGCTGGCTCCAGAGGCGGGCCCAGAGGGTGTGAGGTCAGGCTGGCGGCGGCGTCGTCGGCTGCGACCGGGGCCGGCGTCGCGCGTCCCTGCATCCTCGCATCCGTCTGCACCGGCATGCGGTGGGCTCTCAGAGATCGAGGCGCGAATGCAGCGCGCCGGTCTTGCTGTCGTGGTCCCAGTAAGAGCAATGCATCATGGCGAGCTCGGGCTGCCGGGCACAAGCGAACTGCAGGCCCGGCGCACTGGTGGGCGCGGGCGCCGGGGGCGCGGCGGTGGCTGGGCTGGCAGGGCTGAGCTGGCCCGGCGGCGGCGCGGCGGCCCCGTGGTGCGGTGGGGCAGGCGGCGGTGCGGCGGCCGCGTGCAGATGGTGTGCGTGCGGATGCGGGTGGGGGTGCGGCGGAGGCGGGGGTGCGGCCGGCGGGCCTCCCAGGCCATTGTACGAGTTCACTACGCCGGGGGGCAGCGCCATGCTCTGCACGCGTGTGTACGGCCCGTACGAGGCGGCCGGGCCCGCCAGCCCCTTGACCACAGCGGCCGCGCCAGGGCTACCGGGGCCCGCGGCTGCAGCCGCAGCTGCTGCAGCCGC;Ala225TrpfsTer41])
| ClinVar |
3 | g.138945725_138945788delinsGGGGGCGCGGCGGTGGCTGGGCTGGCAGGGCTGAGCTGGCCCGGCGGCGGCGCGGCGGCCCCGT | CA1405402122 | FOXL2 | c.935_998delinsACGGGGCCGCCGCGCCGCCGCCGGGCCAGCTCAGCCCTGCCAGCCCAGCCACCGCCGCGCCCCC (p.His312=)
| |
3 | g.138945726_138945788delinsCGCCGCCGCC | CA913189428 | FOXL2 | c.935_997delinsGGCGGCGGCG (p.His312ArgfsTer?)
| ClinVar dbSNP |
3 | g.138945765_138945775dup | CA10654858 | FOXL2 | c.951_961dup (p.Gln321ArgfsTer?)
| ClinVar dbSNP |
3 | g.138945765_138945768delinsCCGG | CA1405402148 | FOXL2 | c.955_958delinsCCGG (p.Pro319=)
| |
3 | g.138945774_138945776dup | CA899582006 | FOXL2 | c.955_957dup (p.Pro319_Gly320insPro)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.138945774_138945776del | CA546892572 | FOXL2 | c.955_957del (p.Pro319del)
| dbSNP gnomAD v2 |
3 | g.138945773_138945783del | CA2586973007 | FOXL2 | c.947_957del (p.Ala316GlyfsTer?)
| |
3 | g.138945767G>A | CA354701551 | FOXL2 | c.956C>T (p.Pro319Leu)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.138945767G>C | CA354701554 | FOXL2 | c.956C>G (p.Pro319Arg)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.138945767_138945774del | CA2586973008 | FOXL2 | c.949_956del (p.Pro317GlyfsTer?)
| |
3 | g.138945767_138945775delinsGGCGGCGGC | CA1405402151 | FOXL2 | c.948_956delinsGCCGCCGCC (p.Ala316=)
| |
3 | g.138945775_138945810del | CA1054107766 | FOXL2 | c.921_956del (p.Ala308_Pro319del)
| gnomAD v3 gnomAD v4 |
3 | g.138945769_138945770del | CA2667925218 | FOXL2 | c.954_955del (p.Pro319GlyfsTer?)
| gnomAD v4 |
3 | g.138945776_138945783dup | CA2586973009 | FOXL2 | c.948_955dup (p.Pro319ArgfsTer?)
| gnomAD v4 |
3 | g.138945776_138945783del | CA913189429 | FOXL2 | c.948_955del (p.Pro317GlyfsTer?)
| ClinVar dbSNP |
3 | g.138945769C>A | CA436094047 | FOXL2 | c.954G>T (p.Pro318=)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.138945772C>G | CA436094054 | FOXL2 | c.951G>C (p.Pro317=)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.138945776G>A | CA83969672 | FOXL2 | c.947C>T (p.Ala316Val)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.138945785_138945820del | CA1054107772 | FOXL2 | c.912_947del (p.Pro305_Ala316del)
| gnomAD v3 gnomAD v4 |