Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48691018_48697101delCA2580067086GTF2A1L,LHCGR,STON1-GTF2A1Lc.866+1515_948-2168del
c.866+1515_948-2878del
c.3441+19338_3441+25421del (n.3441+19338_3441+25421del)
c.866+1515_948-2434del
c.866+1515_867-2168del (n.866+1515_867-2168del)
c.276+19338_276+25421del (n.276+19338_276+25421del)
c.*139+1515_*220+3207del
c.791+1515_873-2168del
c.606-2796_687-2168del
c.606-8251_606-2168del (n.606-8251_606-2168del)
c.230+1515_312-2168del
c.612-2796_693-2168del
 ClinVar
2g.48694236_48694239delCA2576963476GTF2A1L,LHCGR,STON1-GTF2A1Lc.933_936del (p.Asn312ThrfsTer14)
c.933_936del (p.Asn312ThrfsTer?)
c.3441+22556_3441+22559del (n.3441+22556_3441+22559del)
c.866+4377_866+4380del (n.866+4377_866+4380del)
c.276+22556_276+22559del (n.276+22556_276+22559del)
c.*206_*209del (n.*206_*209del)
c.-11+3_-11+6del (n.-11+3_-11+6del)
c.858_861del (p.Asn287ThrfsTer14)
c.672_675del (p.Asn225ThrfsTer14)
c.606-5389_606-5386del (n.606-5389_606-5386del)
c.297_300del (p.Asn100ThrfsTer14)
c.678_681del (p.Asn227ThrfsTer14)
2g.48694236T>ACA346751507GTF2A1L,LHCGR,STON1-GTF2A1Lc.935A>T (p.Asn312Ile)
c.3441+22556T>A (n.3441+22556T>A)
c.866+4379A>T (n.866+4379A>T)
c.276+22556T>A (n.276+22556T>A)
c.*208A>T (n.*208A>T)
c.-11+5A>T (n.-11+5A>T)
c.860A>T (p.Asn287Ile)
c.674A>T (p.Asn225Ile)
c.606-5387A>T (n.606-5387A>T)
c.299A>T (p.Asn100Ile)
c.680A>T (p.Asn227Ile)
 gnomAD v4
2g.48694236T>CCA1653123GTF2A1L,LHCGR,STON1-GTF2A1Lc.935A>G (p.Asn312Ser)
c.3441+22556T>C (n.3441+22556T>C)
c.866+4379A>G (n.866+4379A>G)
c.276+22556T>C (n.276+22556T>C)
c.*208A>G (n.*208A>G)
c.-11+5A>G (n.-11+5A>G)
c.860A>G (p.Asn287Ser)
c.674A>G (p.Asn225Ser)
c.606-5387A>G (n.606-5387A>G)
c.299A>G (p.Asn100Ser)
c.680A>G (p.Asn227Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48694236T>GCA346751511GTF2A1L,LHCGR,STON1-GTF2A1Lc.935A>C (p.Asn312Thr)
c.3441+22556T>G (n.3441+22556T>G)
c.866+4379A>C (n.866+4379A>C)
c.276+22556T>G (n.276+22556T>G)
c.*208A>C (n.*208A>C)
c.-11+5A>C (n.-11+5A>C)
c.860A>C (p.Asn287Thr)
c.674A>C (p.Asn225Thr)
c.606-5387A>C (n.606-5387A>C)
c.299A>C (p.Asn100Thr)
c.680A>C (p.Asn227Thr)
 dbSNP gnomAD v4
2g.48694236T=CA1248603963GTF2A1L,LHCGR,STON1-GTF2A1Lc.935A= (p.Asn312=)
c.3441+22556T= (n.3441+22556T=)
c.866+4379A= (n.866+4379A=)
c.276+22556T= (n.276+22556T=)
c.*208A= (n.*208A=)
c.-11+5A= (n.-11+5A=)
c.860A= (p.Asn287=)
c.674A= (p.Asn225=)
c.606-5387A= (n.606-5387A=)
c.299A= (p.Asn100=)
c.680A= (p.Asn227=)
2g.48694236_48694237insGTTGCAAAGCAACTTTTAATAGTTTTAAAACA2530168888GTF2A1L,LHCGR,STON1-GTF2A1Lc.934_935insTTTTAAAACTATTAAAAGTTGCTTTGCAAC (p.Asn312delinsIleLeuLysLeuLeuLysValAlaLeuGlnHis)
c.3441+22556_3441+22557insGTTGCAAAGCAACTTTTAATAGTTTTAAAA (n.3441+22556_3441+22557insGTTGCAAAGCAACTTTTAATAGTTTTAAAA)
c.866+4378_866+4379insTTTTAAAACTATTAAAAGTTGCTTTGCAAC (n.866+4378_866+4379insTTTTAAAACTATTAAAAGTTGCTTTGCAAC)
c.276+22556_276+22557insGTTGCAAAGCAACTTTTAATAGTTTTAAAA (n.276+22556_276+22557insGTTGCAAAGCAACTTTTAATAGTTTTAAAA)
c.*207_*208insTTTTAAAACTATTAAAAGTTGCTTTGCAAC (n.*207_*208insTTTTAAAACTATTAAAAGTTGCTTTGCAAC)
c.-11+4_-11+5insTTTTAAAACTATTAAAAGTTGCTTTGCAAC (n.-11+4_-11+5insTTTTAAAACTATTAAAAGTTGCTTTGCAAC)
c.859_860insTTTTAAAACTATTAAAAGTTGCTTTGCAAC (p.Asn287delinsIleLeuLysLeuLeuLysValAlaLeuGlnHis)
c.673_674insTTTTAAAACTATTAAAAGTTGCTTTGCAAC (p.Asn225delinsIleLeuLysLeuLeuLysValAlaLeuGlnHis)
c.606-5388_606-5387insTTTTAAAACTATTAAAAGTTGCTTTGCAAC (n.606-5388_606-5387insTTTTAAAACTATTAAAAGTTGCTTTGCAAC)
c.298_299insTTTTAAAACTATTAAAAGTTGCTTTGCAAC (p.Asn100delinsIleLeuLysLeuLeuLysValAlaLeuGlnHis)
c.679_680insTTTTAAAACTATTAAAAGTTGCTTTGCAAC (p.Asn227delinsIleLeuLysLeuLeuLysValAlaLeuGlnHis)
2g.48694237T>ACA346751520GTF2A1L,LHCGR,STON1-GTF2A1Lc.934A>T (p.Asn312Tyr)
c.3441+22557T>A (n.3441+22557T>A)
c.866+4378A>T (n.866+4378A>T)
c.276+22557T>A (n.276+22557T>A)
c.*207A>T (n.*207A>T)
c.-11+4A>T (n.-11+4A>T)
c.859A>T (p.Asn287Tyr)
c.673A>T (p.Asn225Tyr)
c.606-5388A>T (n.606-5388A>T)
c.298A>T (p.Asn100Tyr)
c.679A>T (p.Asn227Tyr)
2g.48694237T>CCA346751517GTF2A1L,LHCGR,STON1-GTF2A1Lc.934A>G (p.Asn312Asp)
c.3441+22557T>C (n.3441+22557T>C)
c.866+4378A>G (n.866+4378A>G)
c.276+22557T>C (n.276+22557T>C)
c.*207A>G (n.*207A>G)
c.-11+4A>G (n.-11+4A>G)
c.859A>G (p.Asn287Asp)
c.673A>G (p.Asn225Asp)
c.606-5388A>G (n.606-5388A>G)
c.298A>G (p.Asn100Asp)
c.679A>G (p.Asn227Asp)
 gnomAD v4
2g.48694237T>GCA346751514GTF2A1L,LHCGR,STON1-GTF2A1Lc.934A>C (p.Asn312His)
c.3441+22557T>G (n.3441+22557T>G)
c.866+4378A>C (n.866+4378A>C)
c.276+22557T>G (n.276+22557T>G)
c.*207A>C (n.*207A>C)
c.-11+4A>C (n.-11+4A>C)
c.859A>C (p.Asn287His)
c.673A>C (p.Asn225His)
c.606-5388A>C (n.606-5388A>C)
c.298A>C (p.Asn100His)
c.679A>C (p.Asn227His)
2g.48694238C>ACA426018129GTF2A1L,LHCGR,STON1-GTF2A1Lc.933G>T (p.Val311=)
c.3441+22558C>A (n.3441+22558C>A)
c.866+4377G>T (n.866+4377G>T)
c.276+22558C>A (n.276+22558C>A)
c.*206G>T (n.*206G>T)
c.-11+3G>T (n.-11+3G>T)
c.858G>T (p.Val286=)
c.672G>T (p.Val224=)
c.606-5389G>T (n.606-5389G>T)
c.297G>T (p.Val99=)
c.678G>T (p.Val226=)
 gnomAD v4
2g.48694238C=CA1248603964GTF2A1L,LHCGR,STON1-GTF2A1Lc.933G= (p.Val311=)
c.3441+22558C= (n.3441+22558C=)
c.866+4377G= (n.866+4377G=)
c.276+22558C= (n.276+22558C=)
c.*206G= (n.*206G=)
c.-11+3G= (n.-11+3G=)
c.858G= (p.Val286=)
c.672G= (p.Val224=)
c.606-5389G= (n.606-5389G=)
c.297G= (p.Val99=)
c.678G= (p.Val226=)
2g.48694238C>GCA426018130GTF2A1L,LHCGR,STON1-GTF2A1Lc.933G>C (p.Val311=)
c.3441+22558C>G (n.3441+22558C>G)
c.866+4377G>C (n.866+4377G>C)
c.276+22558C>G (n.276+22558C>G)
c.*206G>C (n.*206G>C)
c.-11+3G>C (n.-11+3G>C)
c.858G>C (p.Val286=)
c.672G>C (p.Val224=)
c.606-5389G>C (n.606-5389G>C)
c.297G>C (p.Val99=)
c.678G>C (p.Val226=)
2g.48694238C>TCA426018131GTF2A1L,LHCGR,STON1-GTF2A1Lc.933G>A (p.Val311=)
c.3441+22558C>T (n.3441+22558C>T)
c.866+4377G>A (n.866+4377G>A)
c.276+22558C>T (n.276+22558C>T)
c.*206G>A (n.*206G>A)
c.-11+3G>A (n.-11+3G>A)
c.858G>A (p.Val286=)
c.672G>A (p.Val224=)
c.606-5389G>A (n.606-5389G>A)
c.297G>A (p.Val99=)
c.678G>A (p.Val226=)
 dbSNP gnomAD v2 gnomAD v4
2g.48694239A>CCA346751529GTF2A1L,LHCGR,STON1-GTF2A1Lc.932T>G (p.Val311Gly)
c.3441+22559A>C (n.3441+22559A>C)
c.866+4376T>G (n.866+4376T>G)
c.276+22559A>C (n.276+22559A>C)
c.*205T>G (n.*205T>G)
c.-11+2T>G (n.-11+2T>G)
c.857T>G (p.Val286Gly)
c.671T>G (p.Val224Gly)
c.606-5390T>G (n.606-5390T>G)
c.296T>G (p.Val99Gly)
c.677T>G (p.Val226Gly)
2g.48694239A>GCA346751523GTF2A1L,LHCGR,STON1-GTF2A1Lc.932T>C (p.Val311Ala)
c.3441+22559A>G (n.3441+22559A>G)
c.866+4376T>C (n.866+4376T>C)
c.276+22559A>G (n.276+22559A>G)
c.*205T>C (n.*205T>C)
c.-11+2T>C (n.-11+2T>C)
c.857T>C (p.Val286Ala)
c.671T>C (p.Val224Ala)
c.606-5390T>C (n.606-5390T>C)
c.296T>C (p.Val99Ala)
c.677T>C (p.Val226Ala)
 gnomAD v4
2g.48694239A>TCA346751526GTF2A1L,LHCGR,STON1-GTF2A1Lc.932T>A (p.Val311Glu)
c.3441+22559A>T (n.3441+22559A>T)
c.866+4376T>A (n.866+4376T>A)
c.276+22559A>T (n.276+22559A>T)
c.*205T>A (n.*205T>A)
c.-11+2T>A (n.-11+2T>A)
c.857T>A (p.Val286Glu)
c.671T>A (p.Val224Glu)
c.606-5390T>A (n.606-5390T>A)
c.296T>A (p.Val99Glu)
c.677T>A (p.Val226Glu)
 gnomAD v4
2g.48694240C>ACA346751531GTF2A1L,LHCGR,STON1-GTF2A1Lc.931G>T (p.Val311Leu)
c.3441+22560C>A (n.3441+22560C>A)
c.866+4375G>T (n.866+4375G>T)
c.276+22560C>A (n.276+22560C>A)
c.*204G>T (n.*204G>T)
c.-11+1G>T (n.-11+1G>T)
c.856G>T (p.Val286Leu)
c.670G>T (p.Val224Leu)
c.606-5391G>T (n.606-5391G>T)
c.295G>T (p.Val99Leu)
c.676G>T (p.Val226Leu)
 dbSNP
2g.48694240C=CA1248603965GTF2A1L,LHCGR,STON1-GTF2A1Lc.931G= (p.Val311=)
c.3441+22560C= (n.3441+22560C=)
c.866+4375G= (n.866+4375G=)
c.276+22560C= (n.276+22560C=)
c.*204G= (n.*204G=)
c.-11+1G= (n.-11+1G=)
c.856G= (p.Val286=)
c.670G= (p.Val224=)
c.606-5391G= (n.606-5391G=)
c.295G= (p.Val99=)
c.676G= (p.Val226=)
2g.48694240C>GCA346751534GTF2A1L,LHCGR,STON1-GTF2A1Lc.931G>C (p.Val311Leu)
c.3441+22560C>G (n.3441+22560C>G)
c.866+4375G>C (n.866+4375G>C)
c.276+22560C>G (n.276+22560C>G)
c.*204G>C (n.*204G>C)
c.-11+1G>C (n.-11+1G>C)
c.856G>C (p.Val286Leu)
c.670G>C (p.Val224Leu)
c.606-5391G>C (n.606-5391G>C)
c.295G>C (p.Val99Leu)
c.676G>C (p.Val226Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48694240C>TCA346751537GTF2A1L,LHCGR,STON1-GTF2A1Lc.931G>A (p.Val311Met)
c.3441+22560C>T (n.3441+22560C>T)
c.866+4375G>A (n.866+4375G>A)
c.276+22560C>T (n.276+22560C>T)
c.*204G>A (n.*204G>A)
c.-11+1G>A (n.-11+1G>A)
c.856G>A (p.Val286Met)
c.670G>A (p.Val224Met)
c.606-5391G>A (n.606-5391G>A)
c.295G>A (p.Val99Met)
c.676G>A (p.Val226Met)
2g.48694241T>ACA346751538GTF2A1L,LHCGR,STON1-GTF2A1Lc.930A>T (p.Lys310Asn)
c.3441+22561T>A (n.3441+22561T>A)
c.866+4374A>T (n.866+4374A>T)
c.276+22561T>A (n.276+22561T>A)
c.*203A>T (n.*203A>T)
c.-11A>T (n.-11A>T)
c.855A>T (p.Lys285Asn)
c.669A>T (p.Lys223Asn)
c.606-5392A>T (n.606-5392A>T)
c.294A>T (p.Lys98Asn)
c.675A>T (p.Lys225Asn)
 gnomAD v4
2g.48694241T>CCA426018132GTF2A1L,LHCGR,STON1-GTF2A1Lc.930A>G (p.Lys310=)
c.3441+22561T>C (n.3441+22561T>C)
c.866+4374A>G (n.866+4374A>G)
c.276+22561T>C (n.276+22561T>C)
c.*203A>G (n.*203A>G)
c.-11A>G (n.-11A>G)
c.855A>G (p.Lys285=)
c.669A>G (p.Lys223=)
c.606-5392A>G (n.606-5392A>G)
c.294A>G (p.Lys98=)
c.675A>G (p.Lys225=)
 gnomAD v4
2g.48694241T>GCA346751540GTF2A1L,LHCGR,STON1-GTF2A1Lc.930A>C (p.Lys310Asn)
c.3441+22561T>G (n.3441+22561T>G)
c.866+4374A>C (n.866+4374A>C)
c.276+22561T>G (n.276+22561T>G)
c.*203A>C (n.*203A>C)
c.-11A>C (n.-11A>C)
c.855A>C (p.Lys285Asn)
c.669A>C (p.Lys223Asn)
c.606-5392A>C (n.606-5392A>C)
c.294A>C (p.Lys98Asn)
c.675A>C (p.Lys225Asn)
2g.48694243delCA2658992271GTF2A1L,LHCGR,STON1-GTF2A1Lc.930del (p.Val311Ter)
c.3441+22563del (n.3441+22563del)
c.866+4374del (n.866+4374del)
c.276+22563del (n.276+22563del)
c.*203del (n.*203del)
c.-11del (n.-11del)
c.855del (p.Val286Ter)
c.669del (p.Val224Ter)
c.606-5392del (n.606-5392del)
c.294del (p.Val99Ter)
c.675del (p.Val226Ter)
 gnomAD v4
2g.48694242T>ACA346751543GTF2A1L,LHCGR,STON1-GTF2A1Lc.929A>T (p.Lys310Ile)
c.3441+22562T>A (n.3441+22562T>A)
c.866+4373A>T (n.866+4373A>T)
c.276+22562T>A (n.276+22562T>A)
c.*202A>T (n.*202A>T)
c.-12A>T (n.-12A>T)
c.854A>T (p.Lys285Ile)
c.668A>T (p.Lys223Ile)
c.606-5393A>T (n.606-5393A>T)
c.293A>T (p.Lys98Ile)
c.674A>T (p.Lys225Ile)
2g.48694242T>CCA346751545GTF2A1L,LHCGR,STON1-GTF2A1Lc.929A>G (p.Lys310Arg)
c.3441+22562T>C (n.3441+22562T>C)
c.866+4373A>G (n.866+4373A>G)
c.276+22562T>C (n.276+22562T>C)
c.*202A>G (n.*202A>G)
c.-12A>G (n.-12A>G)
c.854A>G (p.Lys285Arg)
c.668A>G (p.Lys223Arg)
c.606-5393A>G (n.606-5393A>G)
c.293A>G (p.Lys98Arg)
c.674A>G (p.Lys225Arg)
 gnomAD v4
2g.48694242T>GCA1653124GTF2A1L,LHCGR,STON1-GTF2A1Lc.929A>C (p.Lys310Thr)
c.3441+22562T>G (n.3441+22562T>G)
c.866+4373A>C (n.866+4373A>C)
c.276+22562T>G (n.276+22562T>G)
c.*202A>C (n.*202A>C)
c.-12A>C (n.-12A>C)
c.854A>C (p.Lys285Thr)
c.668A>C (p.Lys223Thr)
c.606-5393A>C (n.606-5393A>C)
c.293A>C (p.Lys98Thr)
c.674A>C (p.Lys225Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.48694242T=CA1248603966GTF2A1L,LHCGR,STON1-GTF2A1Lc.929A= (p.Lys310=)
c.3441+22562T= (n.3441+22562T=)
c.866+4373A= (n.866+4373A=)
c.276+22562T= (n.276+22562T=)
c.*202A= (n.*202A=)
c.-12A= (n.-12A=)
c.854A= (p.Lys285=)
c.668A= (p.Lys223=)
c.606-5393A= (n.606-5393A=)
c.293A= (p.Lys98=)
c.674A= (p.Lys225=)
2g.48694243T>ACA346751549GTF2A1L,LHCGR,STON1-GTF2A1Lc.928A>T (p.Lys310Ter)
c.3441+22563T>A (n.3441+22563T>A)
c.866+4372A>T (n.866+4372A>T)
c.276+22563T>A (n.276+22563T>A)
c.*201A>T (n.*201A>T)
c.-13A>T (n.-13A>T)
c.853A>T (p.Lys285Ter)
c.667A>T (p.Lys223Ter)
c.606-5394A>T (n.606-5394A>T)
c.292A>T (p.Lys98Ter)
c.673A>T (p.Lys225Ter)
 gnomAD v4
2g.48694243T>CCA1653125GTF2A1L,LHCGR,STON1-GTF2A1Lc.928A>G (p.Lys310Glu)
c.3441+22563T>C (n.3441+22563T>C)
c.866+4372A>G (n.866+4372A>G)
c.276+22563T>C (n.276+22563T>C)
c.*201A>G (n.*201A>G)
c.-13A>G (n.-13A>G)
c.853A>G (p.Lys285Glu)
c.667A>G (p.Lys223Glu)
c.606-5394A>G (n.606-5394A>G)
c.292A>G (p.Lys98Glu)
c.673A>G (p.Lys225Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48694243T>GCA346751553GTF2A1L,LHCGR,STON1-GTF2A1Lc.928A>C (p.Lys310Gln)
c.3441+22563T>G (n.3441+22563T>G)
c.866+4372A>C (n.866+4372A>C)
c.276+22563T>G (n.276+22563T>G)
c.*201A>C (n.*201A>C)
c.-13A>C (n.-13A>C)
c.853A>C (p.Lys285Gln)
c.667A>C (p.Lys223Gln)
c.606-5394A>C (n.606-5394A>C)
c.292A>C (p.Lys98Gln)
c.673A>C (p.Lys225Gln)
2g.48694243T=CA1248603967GTF2A1L,LHCGR,STON1-GTF2A1Lc.928A= (p.Lys310=)
c.3441+22563T= (n.3441+22563T=)
c.866+4372A= (n.866+4372A=)
c.276+22563T= (n.276+22563T=)
c.*201A= (n.*201A=)
c.-13A= (n.-13A=)
c.853A= (p.Lys285=)
c.667A= (p.Lys223=)
c.606-5394A= (n.606-5394A=)
c.292A= (p.Lys98=)
c.673A= (p.Lys225=)
2g.48694244C>ACA346751557GTF2A1L,LHCGR,STON1-GTF2A1Lc.927G>T (p.Arg309Ser)
c.3441+22564C>A (n.3441+22564C>A)
c.866+4371G>T (n.866+4371G>T)
c.276+22564C>A (n.276+22564C>A)
c.*200G>T (n.*200G>T)
c.-14G>T (n.-14G>T)
c.852G>T (p.Arg284Ser)
c.666G>T (p.Arg222Ser)
c.606-5395G>T (n.606-5395G>T)
c.291G>T (p.Arg97Ser)
c.672G>T (p.Arg224Ser)
2g.48694244C>GCA346751555GTF2A1L,LHCGR,STON1-GTF2A1Lc.927G>C (p.Arg309Ser)
c.3441+22564C>G (n.3441+22564C>G)
c.866+4371G>C (n.866+4371G>C)
c.276+22564C>G (n.276+22564C>G)
c.*200G>C (n.*200G>C)
c.-14G>C (n.-14G>C)
c.852G>C (p.Arg284Ser)
c.666G>C (p.Arg222Ser)
c.606-5395G>C (n.606-5395G>C)
c.291G>C (p.Arg97Ser)
c.672G>C (p.Arg224Ser)
 gnomAD v4
2g.48694244C>TCA426018133GTF2A1L,LHCGR,STON1-GTF2A1Lc.927G>A (p.Arg309=)
c.3441+22564C>T (n.3441+22564C>T)
c.866+4371G>A (n.866+4371G>A)
c.276+22564C>T (n.276+22564C>T)
c.*200G>A (n.*200G>A)
c.-14G>A (n.-14G>A)
c.852G>A (p.Arg284=)
c.666G>A (p.Arg222=)
c.606-5395G>A (n.606-5395G>A)
c.291G>A (p.Arg97=)
c.672G>A (p.Arg224=)
 gnomAD v4 COSMIC
2g.48694245C>ACA346751560GTF2A1L,LHCGR,STON1-GTF2A1Lc.926G>T (p.Arg309Met)
c.3441+22565C>A (n.3441+22565C>A)
c.866+4370G>T (n.866+4370G>T)
c.276+22565C>A (n.276+22565C>A)
c.*199G>T (n.*199G>T)
c.-15G>T (n.-15G>T)
c.851G>T (p.Arg284Met)
c.665G>T (p.Arg222Met)
c.606-5396G>T (n.606-5396G>T)
c.290G>T (p.Arg97Met)
c.671G>T (p.Arg224Met)
 gnomAD v4
2g.48694245C>GCA346751562GTF2A1L,LHCGR,STON1-GTF2A1Lc.926G>C (p.Arg309Thr)
c.3441+22565C>G (n.3441+22565C>G)
c.866+4370G>C (n.866+4370G>C)
c.276+22565C>G (n.276+22565C>G)
c.*199G>C (n.*199G>C)
c.-15G>C (n.-15G>C)
c.851G>C (p.Arg284Thr)
c.665G>C (p.Arg222Thr)
c.606-5396G>C (n.606-5396G>C)
c.290G>C (p.Arg97Thr)
c.671G>C (p.Arg224Thr)
 gnomAD v4
2g.48694245C>TCA346751563GTF2A1L,LHCGR,STON1-GTF2A1Lc.926G>A (p.Arg309Lys)
c.3441+22565C>T (n.3441+22565C>T)
c.866+4370G>A (n.866+4370G>A)
c.276+22565C>T (n.276+22565C>T)
c.*199G>A (n.*199G>A)
c.-15G>A (n.-15G>A)
c.851G>A (p.Arg284Lys)
c.665G>A (p.Arg222Lys)
c.606-5396G>A (n.606-5396G>A)
c.290G>A (p.Arg97Lys)
c.671G>A (p.Arg224Lys)
 gnomAD v4
2g.48694246T>ACA346751566GTF2A1L,LHCGR,STON1-GTF2A1Lc.925A>T (p.Arg309Trp)
c.3441+22566T>A (n.3441+22566T>A)
c.866+4369A>T (n.866+4369A>T)
c.276+22566T>A (n.276+22566T>A)
c.*198A>T (n.*198A>T)
c.-16A>T (n.-16A>T)
c.850A>T (p.Arg284Trp)
c.664A>T (p.Arg222Trp)
c.606-5397A>T (n.606-5397A>T)
c.289A>T (p.Arg97Trp)
c.670A>T (p.Arg224Trp)
2g.48694246T>CCA346751567GTF2A1L,LHCGR,STON1-GTF2A1Lc.925A>G (p.Arg309Gly)
c.3441+22566T>C (n.3441+22566T>C)
c.866+4369A>G (n.866+4369A>G)
c.276+22566T>C (n.276+22566T>C)
c.*198A>G (n.*198A>G)
c.-16A>G (n.-16A>G)
c.850A>G (p.Arg284Gly)
c.664A>G (p.Arg222Gly)
c.606-5397A>G (n.606-5397A>G)
c.289A>G (p.Arg97Gly)
c.670A>G (p.Arg224Gly)
 gnomAD v4
2g.48694246T>GCA426018134GTF2A1L,LHCGR,STON1-GTF2A1Lc.925A>C (p.Arg309=)
c.3441+22566T>G (n.3441+22566T>G)
c.866+4369A>C (n.866+4369A>C)
c.276+22566T>G (n.276+22566T>G)
c.*198A>C (n.*198A>C)
c.-16A>C (n.-16A>C)
c.850A>C (p.Arg284=)
c.664A>C (p.Arg222=)
c.606-5397A>C (n.606-5397A>C)
c.289A>C (p.Arg97=)
c.670A>C (p.Arg224=)
2g.48694247delCA2658992272GTF2A1L,LHCGR,STON1-GTF2A1Lc.925del (p.Arg309GlyfsTer3)
c.3441+22567del (n.3441+22567del)
c.866+4369del (n.866+4369del)
c.276+22567del (n.276+22567del)
c.*198del (n.*198del)
c.-16del (n.-16del)
c.850del (p.Arg284GlyfsTer3)
c.664del (p.Arg222GlyfsTer3)
c.606-5397del (n.606-5397del)
c.289del (p.Arg97GlyfsTer3)
c.670del (p.Arg224GlyfsTer3)
 gnomAD v4
2g.48694247T>ACA426018135GTF2A1L,LHCGR,STON1-GTF2A1Lc.924A>T (p.Val308=)
c.3441+22567T>A (n.3441+22567T>A)
c.866+4368A>T (n.866+4368A>T)
c.276+22567T>A (n.276+22567T>A)
c.*197A>T (n.*197A>T)
c.-17A>T (n.-17A>T)
c.849A>T (p.Val283=)
c.663A>T (p.Val221=)
c.606-5398A>T (n.606-5398A>T)
c.288A>T (p.Val96=)
c.669A>T (p.Val223=)
2g.48694247T>CCA426018137GTF2A1L,LHCGR,STON1-GTF2A1Lc.924A>G (p.Val308=)
c.3441+22567T>C (n.3441+22567T>C)
c.866+4368A>G (n.866+4368A>G)
c.276+22567T>C (n.276+22567T>C)
c.*197A>G (n.*197A>G)
c.-17A>G (n.-17A>G)
c.849A>G (p.Val283=)
c.663A>G (p.Val221=)
c.606-5398A>G (n.606-5398A>G)
c.288A>G (p.Val96=)
c.669A>G (p.Val223=)
2g.48694247T>GCA426018136GTF2A1L,LHCGR,STON1-GTF2A1Lc.924A>C (p.Val308=)
c.3441+22567T>G (n.3441+22567T>G)
c.866+4368A>C (n.866+4368A>C)
c.276+22567T>G (n.276+22567T>G)
c.*197A>C (n.*197A>C)
c.-17A>C (n.-17A>C)
c.849A>C (p.Val283=)
c.663A>C (p.Val221=)
c.606-5398A>C (n.606-5398A>C)
c.288A>C (p.Val96=)
c.669A>C (p.Val223=)
2g.48694248delCA2658992273GTF2A1L,LHCGR,STON1-GTF2A1Lc.923del (p.Val308GlufsTer4)
c.3441+22568del (n.3441+22568del)
c.866+4367del (n.866+4367del)
c.276+22568del (n.276+22568del)
c.*196del (n.*196del)
c.-18del (n.-18del)
c.848del (p.Val283GlufsTer4)
c.662del (p.Val221GlufsTer4)
c.606-5399del (n.606-5399del)
c.287del (p.Val96GlufsTer4)
c.668del (p.Val223GlufsTer4)
 gnomAD v4
2g.48694248A=CA1248603968GTF2A1L,LHCGR,STON1-GTF2A1Lc.923T= (p.Val308=)
c.3441+22568A= (n.3441+22568A=)
c.866+4367T= (n.866+4367T=)
c.276+22568A= (n.276+22568A=)
c.*196T= (n.*196T=)
c.-18T= (n.-18T=)
c.848T= (p.Val283=)
c.662T= (p.Val221=)
c.606-5399T= (n.606-5399T=)
c.287T= (p.Val96=)
c.668T= (p.Val223=)
2g.48694248A>CCA346751569GTF2A1L,LHCGR,STON1-GTF2A1Lc.923T>G (p.Val308Gly)
c.3441+22568A>C (n.3441+22568A>C)
c.866+4367T>G (n.866+4367T>G)
c.276+22568A>C (n.276+22568A>C)
c.*196T>G (n.*196T>G)
c.-18T>G (n.-18T>G)
c.848T>G (p.Val283Gly)
c.662T>G (p.Val221Gly)
c.606-5399T>G (n.606-5399T>G)
c.287T>G (p.Val96Gly)
c.668T>G (p.Val223Gly)
 dbSNP gnomAD v4
2g.48694248A>GCA346751571GTF2A1L,LHCGR,STON1-GTF2A1Lc.923T>C (p.Val308Ala)
c.3441+22568A>G (n.3441+22568A>G)
c.866+4367T>C (n.866+4367T>C)
c.276+22568A>G (n.276+22568A>G)
c.*196T>C (n.*196T>C)
c.-18T>C (n.-18T>C)
c.848T>C (p.Val283Ala)
c.662T>C (p.Val221Ala)
c.606-5399T>C (n.606-5399T>C)
c.287T>C (p.Val96Ala)
c.668T>C (p.Val223Ala)

Number of alleles fetched