Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48688673A=CA1248601228GTF2A1L,LHCGR,STON1-GTF2A1Lc.1124T= (p.Met375=)
c.948-534T= (n.948-534T=)
c.3441+16993A= (n.3441+16993A=)
c.948-90T= (n.948-90T=)
c.1043T= (p.Met348=)
c.276+16993A= (n.276+16993A=)
c.*220+5551T= (n.*220+5551T=)
c.167T= (p.Met56=)
c.194T= (p.Met65=)
c.1049T= (p.Met350=)
c.863T= (p.Met288=)
c.782T= (p.Met261=)
c.488T= (p.Met163=)
c.869T= (p.Met290=)
2g.48688673A>CCA346749542GTF2A1L,LHCGR,STON1-GTF2A1Lc.1124T>G (p.Met375Arg)
c.948-534T>G (n.948-534T>G)
c.3441+16993A>C (n.3441+16993A>C)
c.948-90T>G (n.948-90T>G)
c.1043T>G (p.Met348Arg)
c.276+16993A>C (n.276+16993A>C)
c.*220+5551T>G (n.*220+5551T>G)
c.167T>G (p.Met56Arg)
c.194T>G (p.Met65Arg)
c.1049T>G (p.Met350Arg)
c.863T>G (p.Met288Arg)
c.782T>G (p.Met261Arg)
c.488T>G (p.Met163Arg)
c.869T>G (p.Met290Arg)
2g.48688673A>GCA346749545GTF2A1L,LHCGR,STON1-GTF2A1Lc.1124T>C (p.Met375Thr)
c.948-534T>C (n.948-534T>C)
c.3441+16993A>G (n.3441+16993A>G)
c.948-90T>C (n.948-90T>C)
c.1043T>C (p.Met348Thr)
c.276+16993A>G (n.276+16993A>G)
c.*220+5551T>C (n.*220+5551T>C)
c.167T>C (p.Met56Thr)
c.194T>C (p.Met65Thr)
c.1049T>C (p.Met350Thr)
c.863T>C (p.Met288Thr)
c.782T>C (p.Met261Thr)
c.488T>C (p.Met163Thr)
c.869T>C (p.Met290Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.48688673A>TCA346749548GTF2A1L,LHCGR,STON1-GTF2A1Lc.1124T>A (p.Met375Lys)
c.948-534T>A (n.948-534T>A)
c.3441+16993A>T (n.3441+16993A>T)
c.948-90T>A (n.948-90T>A)
c.1043T>A (p.Met348Lys)
c.276+16993A>T (n.276+16993A>T)
c.*220+5551T>A (n.*220+5551T>A)
c.167T>A (p.Met56Lys)
c.194T>A (p.Met65Lys)
c.1049T>A (p.Met350Lys)
c.863T>A (p.Met288Lys)
c.782T>A (p.Met261Lys)
c.488T>A (p.Met163Lys)
c.869T>A (p.Met290Lys)
2g.48688674T>ACA346749555GTF2A1L,LHCGR,STON1-GTF2A1Lc.1123A>T (p.Met375Leu)
c.948-535A>T (n.948-535A>T)
c.3441+16994T>A (n.3441+16994T>A)
c.948-91A>T (n.948-91A>T)
c.1042A>T (p.Met348Leu)
c.276+16994T>A (n.276+16994T>A)
c.*220+5550A>T (n.*220+5550A>T)
c.166A>T (p.Met56Leu)
c.193A>T (p.Met65Leu)
c.1048A>T (p.Met350Leu)
c.862A>T (p.Met288Leu)
c.781A>T (p.Met261Leu)
c.487A>T (p.Met163Leu)
c.868A>T (p.Met290Leu)
2g.48688674T>CCA346749560GTF2A1L,LHCGR,STON1-GTF2A1Lc.1123A>G (p.Met375Val)
c.948-535A>G (n.948-535A>G)
c.3441+16994T>C (n.3441+16994T>C)
c.948-91A>G (n.948-91A>G)
c.1042A>G (p.Met348Val)
c.276+16994T>C (n.276+16994T>C)
c.*220+5550A>G (n.*220+5550A>G)
c.166A>G (p.Met56Val)
c.193A>G (p.Met65Val)
c.1048A>G (p.Met350Val)
c.862A>G (p.Met288Val)
c.781A>G (p.Met261Val)
c.487A>G (p.Met163Val)
c.868A>G (p.Met290Val)
 gnomAD v4
2g.48688674T>GCA346749558GTF2A1L,LHCGR,STON1-GTF2A1Lc.1123A>C (p.Met375Leu)
c.948-535A>C (n.948-535A>C)
c.3441+16994T>G (n.3441+16994T>G)
c.948-91A>C (n.948-91A>C)
c.1042A>C (p.Met348Leu)
c.276+16994T>G (n.276+16994T>G)
c.*220+5550A>C (n.*220+5550A>C)
c.166A>C (p.Met56Leu)
c.193A>C (p.Met65Leu)
c.1048A>C (p.Met350Leu)
c.862A>C (p.Met288Leu)
c.781A>C (p.Met261Leu)
c.487A>C (p.Met163Leu)
c.868A>C (p.Met290Leu)
2g.48688675G>ACA426124705GTF2A1L,LHCGR,STON1-GTF2A1Lc.1122C>T (p.Ile374=)
c.948-536C>T (n.948-536C>T)
c.3441+16995G>A (n.3441+16995G>A)
c.948-92C>T (n.948-92C>T)
c.1041C>T (p.Ile347=)
c.276+16995G>A (n.276+16995G>A)
c.*220+5549C>T (n.*220+5549C>T)
c.165C>T (p.Ile55=)
c.192C>T (p.Ile64=)
c.1047C>T (p.Ile349=)
c.861C>T (p.Ile287=)
c.780C>T (p.Ile260=)
c.486C>T (p.Ile162=)
c.867C>T (p.Ile289=)
2g.48688675G>CCA346749563GTF2A1L,LHCGR,STON1-GTF2A1Lc.1122C>G (p.Ile374Met)
c.948-536C>G (n.948-536C>G)
c.3441+16995G>C (n.3441+16995G>C)
c.948-92C>G (n.948-92C>G)
c.1041C>G (p.Ile347Met)
c.276+16995G>C (n.276+16995G>C)
c.*220+5549C>G (n.*220+5549C>G)
c.165C>G (p.Ile55Met)
c.192C>G (p.Ile64Met)
c.1047C>G (p.Ile349Met)
c.861C>G (p.Ile287Met)
c.780C>G (p.Ile260Met)
c.486C>G (p.Ile162Met)
c.867C>G (p.Ile289Met)
2g.48688675G>TCA426124706GTF2A1L,LHCGR,STON1-GTF2A1Lc.1122C>A (p.Ile374=)
c.948-536C>A (n.948-536C>A)
c.3441+16995G>T (n.3441+16995G>T)
c.948-92C>A (n.948-92C>A)
c.1041C>A (p.Ile347=)
c.276+16995G>T (n.276+16995G>T)
c.*220+5549C>A (n.*220+5549C>A)
c.165C>A (p.Ile55=)
c.192C>A (p.Ile64=)
c.1047C>A (p.Ile349=)
c.861C>A (p.Ile287=)
c.780C>A (p.Ile260=)
c.486C>A (p.Ile162=)
c.867C>A (p.Ile289=)
2g.48688676A=CA1248601229GTF2A1L,LHCGR,STON1-GTF2A1Lc.1121T= (p.Ile374=)
c.948-537T= (n.948-537T=)
c.3441+16996A= (n.3441+16996A=)
c.948-93T= (n.948-93T=)
c.1040T= (p.Ile347=)
c.276+16996A= (n.276+16996A=)
c.*220+5548T= (n.*220+5548T=)
c.164T= (p.Ile55=)
c.191T= (p.Ile64=)
c.1046T= (p.Ile349=)
c.860T= (p.Ile287=)
c.779T= (p.Ile260=)
c.485T= (p.Ile162=)
c.866T= (p.Ile289=)
2g.48688676A>CCA346749566GTF2A1L,LHCGR,STON1-GTF2A1Lc.1121T>G (p.Ile374Ser)
c.948-537T>G (n.948-537T>G)
c.3441+16996A>C (n.3441+16996A>C)
c.948-93T>G (n.948-93T>G)
c.1040T>G (p.Ile347Ser)
c.276+16996A>C (n.276+16996A>C)
c.*220+5548T>G (n.*220+5548T>G)
c.164T>G (p.Ile55Ser)
c.191T>G (p.Ile64Ser)
c.1046T>G (p.Ile349Ser)
c.860T>G (p.Ile287Ser)
c.779T>G (p.Ile260Ser)
c.485T>G (p.Ile162Ser)
c.866T>G (p.Ile289Ser)
2g.48688676A>GCA346749569GTF2A1L,LHCGR,STON1-GTF2A1Lc.1121T>C (p.Ile374Thr)
c.948-537T>C (n.948-537T>C)
c.3441+16996A>G (n.3441+16996A>G)
c.948-93T>C (n.948-93T>C)
c.1040T>C (p.Ile347Thr)
c.276+16996A>G (n.276+16996A>G)
c.*220+5548T>C (n.*220+5548T>C)
c.164T>C (p.Ile55Thr)
c.191T>C (p.Ile64Thr)
c.1046T>C (p.Ile349Thr)
c.860T>C (p.Ile287Thr)
c.779T>C (p.Ile260Thr)
c.485T>C (p.Ile162Thr)
c.866T>C (p.Ile289Thr)
 dbSNP
2g.48688676A>TCA346749572GTF2A1L,LHCGR,STON1-GTF2A1Lc.1121T>A (p.Ile374Asn)
c.948-537T>A (n.948-537T>A)
c.3441+16996A>T (n.3441+16996A>T)
c.948-93T>A (n.948-93T>A)
c.1040T>A (p.Ile347Asn)
c.276+16996A>T (n.276+16996A>T)
c.*220+5548T>A (n.*220+5548T>A)
c.164T>A (p.Ile55Asn)
c.191T>A (p.Ile64Asn)
c.1046T>A (p.Ile349Asn)
c.860T>A (p.Ile287Asn)
c.779T>A (p.Ile260Asn)
c.485T>A (p.Ile162Asn)
c.866T>A (p.Ile289Asn)
2g.48688677T>ACA346749575GTF2A1L,LHCGR,STON1-GTF2A1Lc.1120A>T (p.Ile374Phe)
c.948-538A>T (n.948-538A>T)
c.3441+16997T>A (n.3441+16997T>A)
c.948-94A>T (n.948-94A>T)
c.1039A>T (p.Ile347Phe)
c.276+16997T>A (n.276+16997T>A)
c.*220+5547A>T (n.*220+5547A>T)
c.163A>T (p.Ile55Phe)
c.190A>T (p.Ile64Phe)
c.1045A>T (p.Ile349Phe)
c.859A>T (p.Ile287Phe)
c.778A>T (p.Ile260Phe)
c.484A>T (p.Ile162Phe)
c.865A>T (p.Ile289Phe)
2g.48688677T>CCA346749576GTF2A1L,LHCGR,STON1-GTF2A1Lc.1120A>G (p.Ile374Val)
c.948-538A>G (n.948-538A>G)
c.3441+16997T>C (n.3441+16997T>C)
c.948-94A>G (n.948-94A>G)
c.1039A>G (p.Ile347Val)
c.276+16997T>C (n.276+16997T>C)
c.*220+5547A>G (n.*220+5547A>G)
c.163A>G (p.Ile55Val)
c.190A>G (p.Ile64Val)
c.1045A>G (p.Ile349Val)
c.859A>G (p.Ile287Val)
c.778A>G (p.Ile260Val)
c.484A>G (p.Ile162Val)
c.865A>G (p.Ile289Val)
2g.48688677T>GCA346749578GTF2A1L,LHCGR,STON1-GTF2A1Lc.1120A>C (p.Ile374Leu)
c.948-538A>C (n.948-538A>C)
c.3441+16997T>G (n.3441+16997T>G)
c.948-94A>C (n.948-94A>C)
c.1039A>C (p.Ile347Leu)
c.276+16997T>G (n.276+16997T>G)
c.*220+5547A>C (n.*220+5547A>C)
c.163A>C (p.Ile55Leu)
c.190A>C (p.Ile64Leu)
c.1045A>C (p.Ile349Leu)
c.859A>C (p.Ile287Leu)
c.778A>C (p.Ile260Leu)
c.484A>C (p.Ile162Leu)
c.865A>C (p.Ile289Leu)
2g.48688678G>ACA426124708GTF2A1L,LHCGR,STON1-GTF2A1Lc.1119C>T (p.Ala373=)
c.948-539C>T (n.948-539C>T)
c.3441+16998G>A (n.3441+16998G>A)
c.948-95C>T (n.948-95C>T)
c.1038C>T (p.Ala346=)
c.276+16998G>A (n.276+16998G>A)
c.*220+5546C>T (n.*220+5546C>T)
c.162C>T (p.Ala54=)
c.189C>T (p.Ala63=)
c.1044C>T (p.Ala348=)
c.858C>T (p.Ala286=)
c.777C>T (p.Ala259=)
c.483C>T (p.Ala161=)
c.864C>T (p.Ala288=)
2g.48688678G>CCA426124709GTF2A1L,LHCGR,STON1-GTF2A1Lc.1119C>G (p.Ala373=)
c.948-539C>G (n.948-539C>G)
c.3441+16998G>C (n.3441+16998G>C)
c.948-95C>G (n.948-95C>G)
c.1038C>G (p.Ala346=)
c.276+16998G>C (n.276+16998G>C)
c.*220+5546C>G (n.*220+5546C>G)
c.162C>G (p.Ala54=)
c.189C>G (p.Ala63=)
c.1044C>G (p.Ala348=)
c.858C>G (p.Ala286=)
c.777C>G (p.Ala259=)
c.483C>G (p.Ala161=)
c.864C>G (p.Ala288=)
2g.48688678G>TCA426124710GTF2A1L,LHCGR,STON1-GTF2A1Lc.1119C>A (p.Ala373=)
c.948-539C>A (n.948-539C>A)
c.3441+16998G>T (n.3441+16998G>T)
c.948-95C>A (n.948-95C>A)
c.1038C>A (p.Ala346=)
c.276+16998G>T (n.276+16998G>T)
c.*220+5546C>A (n.*220+5546C>A)
c.162C>A (p.Ala54=)
c.189C>A (p.Ala63=)
c.1044C>A (p.Ala348=)
c.858C>A (p.Ala286=)
c.777C>A (p.Ala259=)
c.483C>A (p.Ala161=)
c.864C>A (p.Ala288=)
2g.48688679G>ACA123926GTF2A1L,LHCGR,STON1-GTF2A1Lc.1118C>T (p.Ala373Val)
c.948-540C>T (n.948-540C>T)
c.3441+16999G>A (n.3441+16999G>A)
c.948-96C>T (n.948-96C>T)
c.1037C>T (p.Ala346Val)
c.276+16999G>A (n.276+16999G>A)
c.*220+5545C>T (n.*220+5545C>T)
c.161C>T (p.Ala54Val)
c.188C>T (p.Ala63Val)
c.1043C>T (p.Ala348Val)
c.857C>T (p.Ala286Val)
c.776C>T (p.Ala259Val)
c.482C>T (p.Ala161Val)
c.863C>T (p.Ala288Val)
 ClinVar dbSNP
2g.48688679G>CCA346749581GTF2A1L,LHCGR,STON1-GTF2A1Lc.1118C>G (p.Ala373Gly)
c.948-540C>G (n.948-540C>G)
c.3441+16999G>C (n.3441+16999G>C)
c.948-96C>G (n.948-96C>G)
c.1037C>G (p.Ala346Gly)
c.276+16999G>C (n.276+16999G>C)
c.*220+5545C>G (n.*220+5545C>G)
c.161C>G (p.Ala54Gly)
c.188C>G (p.Ala63Gly)
c.1043C>G (p.Ala348Gly)
c.857C>G (p.Ala286Gly)
c.776C>G (p.Ala259Gly)
c.482C>G (p.Ala161Gly)
c.863C>G (p.Ala288Gly)
2g.48688679G=CA1248601230GTF2A1L,LHCGR,STON1-GTF2A1Lc.1118C= (p.Ala373=)
c.948-540C= (n.948-540C=)
c.3441+16999G= (n.3441+16999G=)
c.948-96C= (n.948-96C=)
c.1037C= (p.Ala346=)
c.276+16999G= (n.276+16999G=)
c.*220+5545C= (n.*220+5545C=)
c.161C= (p.Ala54=)
c.188C= (p.Ala63=)
c.1043C= (p.Ala348=)
c.857C= (p.Ala286=)
c.776C= (p.Ala259=)
c.482C= (p.Ala161=)
c.863C= (p.Ala288=)
2g.48688679G>TCA346749584GTF2A1L,LHCGR,STON1-GTF2A1Lc.1118C>A (p.Ala373Asp)
c.948-540C>A (n.948-540C>A)
c.3441+16999G>T (n.3441+16999G>T)
c.948-96C>A (n.948-96C>A)
c.1037C>A (p.Ala346Asp)
c.276+16999G>T (n.276+16999G>T)
c.*220+5545C>A (n.*220+5545C>A)
c.161C>A (p.Ala54Asp)
c.188C>A (p.Ala63Asp)
c.1043C>A (p.Ala348Asp)
c.857C>A (p.Ala286Asp)
c.776C>A (p.Ala259Asp)
c.482C>A (p.Ala161Asp)
c.863C>A (p.Ala288Asp)
2g.48688680C>ACA346749587GTF2A1L,LHCGR,STON1-GTF2A1Lc.1117G>T (p.Ala373Ser)
c.948-541G>T (n.948-541G>T)
c.3441+17000C>A (n.3441+17000C>A)
c.948-97G>T (n.948-97G>T)
c.1036G>T (p.Ala346Ser)
c.276+17000C>A (n.276+17000C>A)
c.*220+5544G>T (n.*220+5544G>T)
c.160G>T (p.Ala54Ser)
c.187G>T (p.Ala63Ser)
c.1042G>T (p.Ala348Ser)
c.856G>T (p.Ala286Ser)
c.775G>T (p.Ala259Ser)
c.481G>T (p.Ala161Ser)
c.862G>T (p.Ala288Ser)
 gnomAD v4
2g.48688680C>GCA346749591GTF2A1L,LHCGR,STON1-GTF2A1Lc.1117G>C (p.Ala373Pro)
c.948-541G>C (n.948-541G>C)
c.3441+17000C>G (n.3441+17000C>G)
c.948-97G>C (n.948-97G>C)
c.1036G>C (p.Ala346Pro)
c.276+17000C>G (n.276+17000C>G)
c.*220+5544G>C (n.*220+5544G>C)
c.160G>C (p.Ala54Pro)
c.187G>C (p.Ala63Pro)
c.1042G>C (p.Ala348Pro)
c.856G>C (p.Ala286Pro)
c.775G>C (p.Ala259Pro)
c.481G>C (p.Ala161Pro)
c.862G>C (p.Ala288Pro)
2g.48688680C>TCA346749585GTF2A1L,LHCGR,STON1-GTF2A1Lc.1117G>A (p.Ala373Thr)
c.948-541G>A (n.948-541G>A)
c.3441+17000C>T (n.3441+17000C>T)
c.948-97G>A (n.948-97G>A)
c.1036G>A (p.Ala346Thr)
c.276+17000C>T (n.276+17000C>T)
c.*220+5544G>A (n.*220+5544G>A)
c.160G>A (p.Ala54Thr)
c.187G>A (p.Ala63Thr)
c.1042G>A (p.Ala348Thr)
c.856G>A (p.Ala286Thr)
c.775G>A (p.Ala259Thr)
c.481G>A (p.Ala161Thr)
c.862G>A (p.Ala288Thr)
 gnomAD v4
2g.48688681T>ACA426124713GTF2A1L,LHCGR,STON1-GTF2A1Lc.1116A>T (p.Leu372=)
c.948-542A>T (n.948-542A>T)
c.3441+17001T>A (n.3441+17001T>A)
c.948-98A>T (n.948-98A>T)
c.1035A>T (p.Leu345=)
c.276+17001T>A (n.276+17001T>A)
c.*220+5543A>T (n.*220+5543A>T)
c.159A>T (p.Leu53=)
c.186A>T (p.Leu62=)
c.1041A>T (p.Leu347=)
c.855A>T (p.Leu285=)
c.774A>T (p.Leu258=)
c.480A>T (p.Leu160=)
c.861A>T (p.Leu287=)
 gnomAD v4
2g.48688681T>CCA426124714GTF2A1L,LHCGR,STON1-GTF2A1Lc.1116A>G (p.Leu372=)
c.948-542A>G (n.948-542A>G)
c.3441+17001T>C (n.3441+17001T>C)
c.948-98A>G (n.948-98A>G)
c.1035A>G (p.Leu345=)
c.276+17001T>C (n.276+17001T>C)
c.*220+5543A>G (n.*220+5543A>G)
c.159A>G (p.Leu53=)
c.186A>G (p.Leu62=)
c.1041A>G (p.Leu347=)
c.855A>G (p.Leu285=)
c.774A>G (p.Leu258=)
c.480A>G (p.Leu160=)
c.861A>G (p.Leu287=)
2g.48688681T>GCA426124715GTF2A1L,LHCGR,STON1-GTF2A1Lc.1116A>C (p.Leu372=)
c.948-542A>C (n.948-542A>C)
c.3441+17001T>G (n.3441+17001T>G)
c.948-98A>C (n.948-98A>C)
c.1035A>C (p.Leu345=)
c.276+17001T>G (n.276+17001T>G)
c.*220+5543A>C (n.*220+5543A>C)
c.159A>C (p.Leu53=)
c.186A>C (p.Leu62=)
c.1041A>C (p.Leu347=)
c.855A>C (p.Leu285=)
c.774A>C (p.Leu258=)
c.480A>C (p.Leu160=)
c.861A>C (p.Leu287=)
2g.48688683_48688687delCA2658992087GTF2A1L,LHCGR,STON1-GTF2A1Lc.1112_1116del (p.Ile371SerfsTer?)
c.948-546_948-542del (n.948-546_948-542del)
c.3441+17003_3441+17007del (n.3441+17003_3441+17007del)
c.948-102_948-98del (n.948-102_948-98del)
c.1031_1035del (p.Ile344SerfsTer?)
c.276+17003_276+17007del (n.276+17003_276+17007del)
c.*220+5539_*220+5543del (n.*220+5539_*220+5543del)
c.155_159del (p.Ile52SerfsTer?)
c.182_186del (p.Ile61SerfsTer?)
c.1037_1041del (p.Ile346SerfsTer?)
c.851_855del (p.Ile284SerfsTer?)
c.770_774del (p.Ile257SerfsTer?)
c.476_480del (p.Ile159SerfsTer?)
c.857_861del (p.Ile286SerfsTer?)
 gnomAD v4
2g.48688682A>CCA346749600GTF2A1L,LHCGR,STON1-GTF2A1Lc.1115T>G (p.Leu372Arg)
c.948-543T>G (n.948-543T>G)
c.3441+17002A>C (n.3441+17002A>C)
c.948-99T>G (n.948-99T>G)
c.1034T>G (p.Leu345Arg)
c.276+17002A>C (n.276+17002A>C)
c.*220+5542T>G (n.*220+5542T>G)
c.158T>G (p.Leu53Arg)
c.185T>G (p.Leu62Arg)
c.1040T>G (p.Leu347Arg)
c.854T>G (p.Leu285Arg)
c.773T>G (p.Leu258Arg)
c.479T>G (p.Leu160Arg)
c.860T>G (p.Leu287Arg)
2g.48688682A>GCA346749595GTF2A1L,LHCGR,STON1-GTF2A1Lc.1115T>C (p.Leu372Pro)
c.948-543T>C (n.948-543T>C)
c.3441+17002A>G (n.3441+17002A>G)
c.948-99T>C (n.948-99T>C)
c.1034T>C (p.Leu345Pro)
c.276+17002A>G (n.276+17002A>G)
c.*220+5542T>C (n.*220+5542T>C)
c.158T>C (p.Leu53Pro)
c.185T>C (p.Leu62Pro)
c.1040T>C (p.Leu347Pro)
c.854T>C (p.Leu285Pro)
c.773T>C (p.Leu258Pro)
c.479T>C (p.Leu160Pro)
c.860T>C (p.Leu287Pro)
2g.48688682A>TCA346749598GTF2A1L,LHCGR,STON1-GTF2A1Lc.1115T>A (p.Leu372Gln)
c.948-543T>A (n.948-543T>A)
c.3441+17002A>T (n.3441+17002A>T)
c.948-99T>A (n.948-99T>A)
c.1034T>A (p.Leu345Gln)
c.276+17002A>T (n.276+17002A>T)
c.*220+5542T>A (n.*220+5542T>A)
c.158T>A (p.Leu53Gln)
c.185T>A (p.Leu62Gln)
c.1040T>A (p.Leu347Gln)
c.854T>A (p.Leu285Gln)
c.773T>A (p.Leu258Gln)
c.479T>A (p.Leu160Gln)
c.860T>A (p.Leu287Gln)
2g.48688683G>ACA426124716GTF2A1L,LHCGR,STON1-GTF2A1Lc.1114C>T (p.Leu372=)
c.948-544C>T (n.948-544C>T)
c.3441+17003G>A (n.3441+17003G>A)
c.948-100C>T (n.948-100C>T)
c.1033C>T (p.Leu345=)
c.276+17003G>A (n.276+17003G>A)
c.*220+5541C>T (n.*220+5541C>T)
c.157C>T (p.Leu53=)
c.184C>T (p.Leu62=)
c.1039C>T (p.Leu347=)
c.853C>T (p.Leu285=)
c.772C>T (p.Leu258=)
c.478C>T (p.Leu160=)
c.859C>T (p.Leu287=)
2g.48688683G>CCA346749603GTF2A1L,LHCGR,STON1-GTF2A1Lc.1114C>G (p.Leu372Val)
c.948-544C>G (n.948-544C>G)
c.3441+17003G>C (n.3441+17003G>C)
c.948-100C>G (n.948-100C>G)
c.1033C>G (p.Leu345Val)
c.276+17003G>C (n.276+17003G>C)
c.*220+5541C>G (n.*220+5541C>G)
c.157C>G (p.Leu53Val)
c.184C>G (p.Leu62Val)
c.1039C>G (p.Leu347Val)
c.853C>G (p.Leu285Val)
c.772C>G (p.Leu258Val)
c.478C>G (p.Leu160Val)
c.859C>G (p.Leu287Val)
2g.48688683G>TCA346749606GTF2A1L,LHCGR,STON1-GTF2A1Lc.1114C>A (p.Leu372Ile)
c.948-544C>A (n.948-544C>A)
c.3441+17003G>T (n.3441+17003G>T)
c.948-100C>A (n.948-100C>A)
c.1033C>A (p.Leu345Ile)
c.276+17003G>T (n.276+17003G>T)
c.*220+5541C>A (n.*220+5541C>A)
c.157C>A (p.Leu53Ile)
c.184C>A (p.Leu62Ile)
c.1039C>A (p.Leu347Ile)
c.853C>A (p.Leu285Ile)
c.772C>A (p.Leu258Ile)
c.478C>A (p.Leu160Ile)
c.859C>A (p.Leu287Ile)
2g.48688684A=CA1248601231GTF2A1L,LHCGR,STON1-GTF2A1Lc.1113T= (p.Ile371=)
c.948-545T= (n.948-545T=)
c.3441+17004A= (n.3441+17004A=)
c.948-101T= (n.948-101T=)
c.1032T= (p.Ile344=)
c.276+17004A= (n.276+17004A=)
c.*220+5540T= (n.*220+5540T=)
c.156T= (p.Ile52=)
c.183T= (p.Ile61=)
c.1038T= (p.Ile346=)
c.852T= (p.Ile284=)
c.771T= (p.Ile257=)
c.477T= (p.Ile159=)
c.858T= (p.Ile286=)
2g.48688684A>CCA346749609GTF2A1L,LHCGR,STON1-GTF2A1Lc.1113T>G (p.Ile371Met)
c.948-545T>G (n.948-545T>G)
c.3441+17004A>C (n.3441+17004A>C)
c.948-101T>G (n.948-101T>G)
c.1032T>G (p.Ile344Met)
c.276+17004A>C (n.276+17004A>C)
c.*220+5540T>G (n.*220+5540T>G)
c.156T>G (p.Ile52Met)
c.183T>G (p.Ile61Met)
c.1038T>G (p.Ile346Met)
c.852T>G (p.Ile284Met)
c.771T>G (p.Ile257Met)
c.477T>G (p.Ile159Met)
c.858T>G (p.Ile286Met)
2g.48688684A>GCA1653079GTF2A1L,LHCGR,STON1-GTF2A1Lc.1113T>C (p.Ile371=)
c.948-545T>C (n.948-545T>C)
c.3441+17004A>G (n.3441+17004A>G)
c.948-101T>C (n.948-101T>C)
c.1032T>C (p.Ile344=)
c.276+17004A>G (n.276+17004A>G)
c.*220+5540T>C (n.*220+5540T>C)
c.156T>C (p.Ile52=)
c.183T>C (p.Ile61=)
c.1038T>C (p.Ile346=)
c.852T>C (p.Ile284=)
c.771T>C (p.Ile257=)
c.477T>C (p.Ile159=)
c.858T>C (p.Ile286=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688684A>TCA426124718GTF2A1L,LHCGR,STON1-GTF2A1Lc.1113T>A (p.Ile371=)
c.948-545T>A (n.948-545T>A)
c.3441+17004A>T (n.3441+17004A>T)
c.948-101T>A (n.948-101T>A)
c.1032T>A (p.Ile344=)
c.276+17004A>T (n.276+17004A>T)
c.*220+5540T>A (n.*220+5540T>A)
c.156T>A (p.Ile52=)
c.183T>A (p.Ile61=)
c.1038T>A (p.Ile346=)
c.852T>A (p.Ile284=)
c.771T>A (p.Ile257=)
c.477T>A (p.Ile159=)
c.858T>A (p.Ile286=)
2g.48688685A=CA1248601232GTF2A1L,LHCGR,STON1-GTF2A1Lc.1112T= (p.Ile371=)
c.948-546T= (n.948-546T=)
c.3441+17005A= (n.3441+17005A=)
c.948-102T= (n.948-102T=)
c.1031T= (p.Ile344=)
c.276+17005A= (n.276+17005A=)
c.*220+5539T= (n.*220+5539T=)
c.155T= (p.Ile52=)
c.182T= (p.Ile61=)
c.1037T= (p.Ile346=)
c.851T= (p.Ile284=)
c.770T= (p.Ile257=)
c.476T= (p.Ile159=)
c.857T= (p.Ile286=)
2g.48688685A>CCA346749612GTF2A1L,LHCGR,STON1-GTF2A1Lc.1112T>G (p.Ile371Ser)
c.948-546T>G (n.948-546T>G)
c.3441+17005A>C (n.3441+17005A>C)
c.948-102T>G (n.948-102T>G)
c.1031T>G (p.Ile344Ser)
c.276+17005A>C (n.276+17005A>C)
c.*220+5539T>G (n.*220+5539T>G)
c.155T>G (p.Ile52Ser)
c.182T>G (p.Ile61Ser)
c.1037T>G (p.Ile346Ser)
c.851T>G (p.Ile284Ser)
c.770T>G (p.Ile257Ser)
c.476T>G (p.Ile159Ser)
c.857T>G (p.Ile286Ser)
2g.48688685A>GCA346749614GTF2A1L,LHCGR,STON1-GTF2A1Lc.1112T>C (p.Ile371Thr)
c.948-546T>C (n.948-546T>C)
c.3441+17005A>G (n.3441+17005A>G)
c.948-102T>C (n.948-102T>C)
c.1031T>C (p.Ile344Thr)
c.276+17005A>G (n.276+17005A>G)
c.*220+5539T>C (n.*220+5539T>C)
c.155T>C (p.Ile52Thr)
c.182T>C (p.Ile61Thr)
c.1037T>C (p.Ile346Thr)
c.851T>C (p.Ile284Thr)
c.770T>C (p.Ile257Thr)
c.476T>C (p.Ile159Thr)
c.857T>C (p.Ile286Thr)
 dbSNP gnomAD v4
2g.48688685A>TCA346749615GTF2A1L,LHCGR,STON1-GTF2A1Lc.1112T>A (p.Ile371Asn)
c.948-546T>A (n.948-546T>A)
c.3441+17005A>T (n.3441+17005A>T)
c.948-102T>A (n.948-102T>A)
c.1031T>A (p.Ile344Asn)
c.276+17005A>T (n.276+17005A>T)
c.*220+5539T>A (n.*220+5539T>A)
c.155T>A (p.Ile52Asn)
c.182T>A (p.Ile61Asn)
c.1037T>A (p.Ile346Asn)
c.851T>A (p.Ile284Asn)
c.770T>A (p.Ile257Asn)
c.476T>A (p.Ile159Asn)
c.857T>A (p.Ile286Asn)
2g.48688686T>ACA346749617GTF2A1L,LHCGR,STON1-GTF2A1Lc.1111A>T (p.Ile371Phe)
c.948-547A>T (n.948-547A>T)
c.3441+17006T>A (n.3441+17006T>A)
c.948-103A>T (n.948-103A>T)
c.1030A>T (p.Ile344Phe)
c.276+17006T>A (n.276+17006T>A)
c.*220+5538A>T (n.*220+5538A>T)
c.154A>T (p.Ile52Phe)
c.181A>T (p.Ile61Phe)
c.1036A>T (p.Ile346Phe)
c.850A>T (p.Ile284Phe)
c.769A>T (p.Ile257Phe)
c.475A>T (p.Ile159Phe)
c.856A>T (p.Ile286Phe)
2g.48688686T>CCA346749620GTF2A1L,LHCGR,STON1-GTF2A1Lc.1111A>G (p.Ile371Val)
c.948-547A>G (n.948-547A>G)
c.3441+17006T>C (n.3441+17006T>C)
c.948-103A>G (n.948-103A>G)
c.1030A>G (p.Ile344Val)
c.276+17006T>C (n.276+17006T>C)
c.*220+5538A>G (n.*220+5538A>G)
c.154A>G (p.Ile52Val)
c.181A>G (p.Ile61Val)
c.1036A>G (p.Ile346Val)
c.850A>G (p.Ile284Val)
c.769A>G (p.Ile257Val)
c.475A>G (p.Ile159Val)
c.856A>G (p.Ile286Val)
2g.48688686T>GCA346749622GTF2A1L,LHCGR,STON1-GTF2A1Lc.1111A>C (p.Ile371Leu)
c.948-547A>C (n.948-547A>C)
c.3441+17006T>G (n.3441+17006T>G)
c.948-103A>C (n.948-103A>C)
c.1030A>C (p.Ile344Leu)
c.276+17006T>G (n.276+17006T>G)
c.*220+5538A>C (n.*220+5538A>C)
c.154A>C (p.Ile52Leu)
c.181A>C (p.Ile61Leu)
c.1036A>C (p.Ile346Leu)
c.850A>C (p.Ile284Leu)
c.769A>C (p.Ile257Leu)
c.475A>C (p.Ile159Leu)
c.856A>C (p.Ile286Leu)
2g.48688687A=CA1248601233GTF2A1L,LHCGR,STON1-GTF2A1Lc.1110T= (p.Asn370=)
c.948-548T= (n.948-548T=)
c.3441+17007A= (n.3441+17007A=)
c.948-104T= (n.948-104T=)
c.1029T= (p.Asn343=)
c.276+17007A= (n.276+17007A=)
c.*220+5537T= (n.*220+5537T=)
c.153T= (p.Asn51=)
c.180T= (p.Asn60=)
c.1035T= (p.Asn345=)
c.849T= (p.Asn283=)
c.768T= (p.Asn256=)
c.474T= (p.Asn158=)
c.855T= (p.Asn285=)
2g.48688687A>CCA346749625GTF2A1L,LHCGR,STON1-GTF2A1Lc.1110T>G (p.Asn370Lys)
c.948-548T>G (n.948-548T>G)
c.3441+17007A>C (n.3441+17007A>C)
c.948-104T>G (n.948-104T>G)
c.1029T>G (p.Asn343Lys)
c.276+17007A>C (n.276+17007A>C)
c.*220+5537T>G (n.*220+5537T>G)
c.153T>G (p.Asn51Lys)
c.180T>G (p.Asn60Lys)
c.1035T>G (p.Asn345Lys)
c.849T>G (p.Asn283Lys)
c.768T>G (p.Asn256Lys)
c.474T>G (p.Asn158Lys)
c.855T>G (p.Asn285Lys)
2g.48688687A>GCA1653080GTF2A1L,LHCGR,STON1-GTF2A1Lc.1110T>C (p.Asn370=)
c.948-548T>C (n.948-548T>C)
c.3441+17007A>G (n.3441+17007A>G)
c.948-104T>C (n.948-104T>C)
c.1029T>C (p.Asn343=)
c.276+17007A>G (n.276+17007A>G)
c.*220+5537T>C (n.*220+5537T>C)
c.153T>C (p.Asn51=)
c.180T>C (p.Asn60=)
c.1035T>C (p.Asn345=)
c.849T>C (p.Asn283=)
c.768T>C (p.Asn256=)
c.474T>C (p.Asn158=)
c.855T>C (p.Asn285=)
 dbSNP ExAC gnomAD v2
2g.48688687A>TCA346749624GTF2A1L,LHCGR,STON1-GTF2A1Lc.1110T>A (p.Asn370Lys)
c.948-548T>A (n.948-548T>A)
c.3441+17007A>T (n.3441+17007A>T)
c.948-104T>A (n.948-104T>A)
c.1029T>A (p.Asn343Lys)
c.276+17007A>T (n.276+17007A>T)
c.*220+5537T>A (n.*220+5537T>A)
c.153T>A (p.Asn51Lys)
c.180T>A (p.Asn60Lys)
c.1035T>A (p.Asn345Lys)
c.849T>A (p.Asn283Lys)
c.768T>A (p.Asn256Lys)
c.474T>A (p.Asn158Lys)
c.855T>A (p.Asn285Lys)
2g.48688688T>ACA346749626GTF2A1L,LHCGR,STON1-GTF2A1Lc.1109A>T (p.Asn370Ile)
c.948-549A>T (n.948-549A>T)
c.3441+17008T>A (n.3441+17008T>A)
c.948-105A>T (n.948-105A>T)
c.1028A>T (p.Asn343Ile)
c.276+17008T>A (n.276+17008T>A)
c.*220+5536A>T (n.*220+5536A>T)
c.152A>T (p.Asn51Ile)
c.179A>T (p.Asn60Ile)
c.1034A>T (p.Asn345Ile)
c.848A>T (p.Asn283Ile)
c.767A>T (p.Asn256Ile)
c.473A>T (p.Asn158Ile)
c.854A>T (p.Asn285Ile)
2g.48688688T>CCA346749627GTF2A1L,LHCGR,STON1-GTF2A1Lc.1109A>G (p.Asn370Ser)
c.948-549A>G (n.948-549A>G)
c.3441+17008T>C (n.3441+17008T>C)
c.948-105A>G (n.948-105A>G)
c.1028A>G (p.Asn343Ser)
c.276+17008T>C (n.276+17008T>C)
c.*220+5536A>G (n.*220+5536A>G)
c.152A>G (p.Asn51Ser)
c.179A>G (p.Asn60Ser)
c.1034A>G (p.Asn345Ser)
c.848A>G (p.Asn283Ser)
c.767A>G (p.Asn256Ser)
c.473A>G (p.Asn158Ser)
c.854A>G (p.Asn285Ser)
2g.48688688T>GCA346749629GTF2A1L,LHCGR,STON1-GTF2A1Lc.1109A>C (p.Asn370Thr)
c.948-549A>C (n.948-549A>C)
c.3441+17008T>G (n.3441+17008T>G)
c.948-105A>C (n.948-105A>C)
c.1028A>C (p.Asn343Thr)
c.276+17008T>G (n.276+17008T>G)
c.*220+5536A>C (n.*220+5536A>C)
c.152A>C (p.Asn51Thr)
c.179A>C (p.Asn60Thr)
c.1034A>C (p.Asn345Thr)
c.848A>C (p.Asn283Thr)
c.767A>C (p.Asn256Thr)
c.473A>C (p.Asn158Thr)
c.854A>C (p.Asn285Thr)
2g.48688689T>ACA346749631GTF2A1L,LHCGR,STON1-GTF2A1Lc.1108A>T (p.Asn370Tyr)
c.948-550A>T (n.948-550A>T)
c.3441+17009T>A (n.3441+17009T>A)
c.948-106A>T (n.948-106A>T)
c.1027A>T (p.Asn343Tyr)
c.276+17009T>A (n.276+17009T>A)
c.*220+5535A>T (n.*220+5535A>T)
c.151A>T (p.Asn51Tyr)
c.178A>T (p.Asn60Tyr)
c.1033A>T (p.Asn345Tyr)
c.847A>T (p.Asn283Tyr)
c.766A>T (p.Asn256Tyr)
c.472A>T (p.Asn158Tyr)
c.853A>T (p.Asn285Tyr)
2g.48688689T>CCA346749632GTF2A1L,LHCGR,STON1-GTF2A1Lc.1108A>G (p.Asn370Asp)
c.948-550A>G (n.948-550A>G)
c.3441+17009T>C (n.3441+17009T>C)
c.948-106A>G (n.948-106A>G)
c.1027A>G (p.Asn343Asp)
c.276+17009T>C (n.276+17009T>C)
c.*220+5535A>G (n.*220+5535A>G)
c.151A>G (p.Asn51Asp)
c.178A>G (p.Asn60Asp)
c.1033A>G (p.Asn345Asp)
c.847A>G (p.Asn283Asp)
c.766A>G (p.Asn256Asp)
c.472A>G (p.Asn158Asp)
c.853A>G (p.Asn285Asp)
2g.48688689T>GCA346749633GTF2A1L,LHCGR,STON1-GTF2A1Lc.1108A>C (p.Asn370His)
c.948-550A>C (n.948-550A>C)
c.3441+17009T>G (n.3441+17009T>G)
c.948-106A>C (n.948-106A>C)
c.1027A>C (p.Asn343His)
c.276+17009T>G (n.276+17009T>G)
c.*220+5535A>C (n.*220+5535A>C)
c.151A>C (p.Asn51His)
c.178A>C (p.Asn60His)
c.1033A>C (p.Asn345His)
c.847A>C (p.Asn283His)
c.766A>C (p.Asn256His)
c.472A>C (p.Asn158His)
c.853A>C (p.Asn285His)
2g.48688690A=CA1248601234GTF2A1L,LHCGR,STON1-GTF2A1Lc.1107T= (p.Ile369=)
c.948-551T= (n.948-551T=)
c.3441+17010A= (n.3441+17010A=)
c.948-107T= (n.948-107T=)
c.1026T= (p.Ile342=)
c.276+17010A= (n.276+17010A=)
c.*220+5534T= (n.*220+5534T=)
c.150T= (p.Ile50=)
c.177T= (p.Ile59=)
c.1032T= (p.Ile344=)
c.846T= (p.Ile282=)
c.765T= (p.Ile255=)
c.471T= (p.Ile157=)
c.852T= (p.Ile284=)
2g.48688690A>CCA46753265GTF2A1L,LHCGR,STON1-GTF2A1Lc.1107T>G (p.Ile369Met)
c.948-551T>G (n.948-551T>G)
c.3441+17010A>C (n.3441+17010A>C)
c.948-107T>G (n.948-107T>G)
c.1026T>G (p.Ile342Met)
c.276+17010A>C (n.276+17010A>C)
c.*220+5534T>G (n.*220+5534T>G)
c.150T>G (p.Ile50Met)
c.177T>G (p.Ile59Met)
c.1032T>G (p.Ile344Met)
c.846T>G (p.Ile282Met)
c.765T>G (p.Ile255Met)
c.471T>G (p.Ile157Met)
c.852T>G (p.Ile284Met)
 dbSNP
2g.48688690A>GCA426124722GTF2A1L,LHCGR,STON1-GTF2A1Lc.1107T>C (p.Ile369=)
c.948-551T>C (n.948-551T>C)
c.3441+17010A>G (n.3441+17010A>G)
c.948-107T>C (n.948-107T>C)
c.1026T>C (p.Ile342=)
c.276+17010A>G (n.276+17010A>G)
c.*220+5534T>C (n.*220+5534T>C)
c.150T>C (p.Ile50=)
c.177T>C (p.Ile59=)
c.1032T>C (p.Ile344=)
c.846T>C (p.Ile282=)
c.765T>C (p.Ile255=)
c.471T>C (p.Ile157=)
c.852T>C (p.Ile284=)
2g.48688690A>TCA426124721GTF2A1L,LHCGR,STON1-GTF2A1Lc.1107T>A (p.Ile369=)
c.948-551T>A (n.948-551T>A)
c.3441+17010A>T (n.3441+17010A>T)
c.948-107T>A (n.948-107T>A)
c.1026T>A (p.Ile342=)
c.276+17010A>T (n.276+17010A>T)
c.*220+5534T>A (n.*220+5534T>A)
c.150T>A (p.Ile50=)
c.177T>A (p.Ile59=)
c.1032T>A (p.Ile344=)
c.846T>A (p.Ile282=)
c.765T>A (p.Ile255=)
c.471T>A (p.Ile157=)
c.852T>A (p.Ile284=)
 gnomAD v4
2g.48688691A>CCA346749635GTF2A1L,LHCGR,STON1-GTF2A1Lc.1106T>G (p.Ile369Ser)
c.948-552T>G (n.948-552T>G)
c.3441+17011A>C (n.3441+17011A>C)
c.948-108T>G (n.948-108T>G)
c.1025T>G (p.Ile342Ser)
c.276+17011A>C (n.276+17011A>C)
c.*220+5533T>G (n.*220+5533T>G)
c.149T>G (p.Ile50Ser)
c.176T>G (p.Ile59Ser)
c.1031T>G (p.Ile344Ser)
c.845T>G (p.Ile282Ser)
c.764T>G (p.Ile255Ser)
c.470T>G (p.Ile157Ser)
c.851T>G (p.Ile284Ser)
2g.48688691A>GCA346749638GTF2A1L,LHCGR,STON1-GTF2A1Lc.1106T>C (p.Ile369Thr)
c.948-552T>C (n.948-552T>C)
c.3441+17011A>G (n.3441+17011A>G)
c.948-108T>C (n.948-108T>C)
c.1025T>C (p.Ile342Thr)
c.276+17011A>G (n.276+17011A>G)
c.*220+5533T>C (n.*220+5533T>C)
c.149T>C (p.Ile50Thr)
c.176T>C (p.Ile59Thr)
c.1031T>C (p.Ile344Thr)
c.845T>C (p.Ile282Thr)
c.764T>C (p.Ile255Thr)
c.470T>C (p.Ile157Thr)
c.851T>C (p.Ile284Thr)
2g.48688691A>TCA346749641GTF2A1L,LHCGR,STON1-GTF2A1Lc.1106T>A (p.Ile369Asn)
c.948-552T>A (n.948-552T>A)
c.3441+17011A>T (n.3441+17011A>T)
c.948-108T>A (n.948-108T>A)
c.1025T>A (p.Ile342Asn)
c.276+17011A>T (n.276+17011A>T)
c.*220+5533T>A (n.*220+5533T>A)
c.149T>A (p.Ile50Asn)
c.176T>A (p.Ile59Asn)
c.1031T>A (p.Ile344Asn)
c.845T>A (p.Ile282Asn)
c.764T>A (p.Ile255Asn)
c.470T>A (p.Ile157Asn)
c.851T>A (p.Ile284Asn)
2g.48688692T>ACA346749642GTF2A1L,LHCGR,STON1-GTF2A1Lc.1105A>T (p.Ile369Phe)
c.948-553A>T (n.948-553A>T)
c.3441+17012T>A (n.3441+17012T>A)
c.948-109A>T (n.948-109A>T)
c.1024A>T (p.Ile342Phe)
c.276+17012T>A (n.276+17012T>A)
c.*220+5532A>T (n.*220+5532A>T)
c.148A>T (p.Ile50Phe)
c.175A>T (p.Ile59Phe)
c.1030A>T (p.Ile344Phe)
c.844A>T (p.Ile282Phe)
c.763A>T (p.Ile255Phe)
c.469A>T (p.Ile157Phe)
c.850A>T (p.Ile284Phe)
2g.48688692T>CCA346749643GTF2A1L,LHCGR,STON1-GTF2A1Lc.1105A>G (p.Ile369Val)
c.948-553A>G (n.948-553A>G)
c.3441+17012T>C (n.3441+17012T>C)
c.948-109A>G (n.948-109A>G)
c.1024A>G (p.Ile342Val)
c.276+17012T>C (n.276+17012T>C)
c.*220+5532A>G (n.*220+5532A>G)
c.148A>G (p.Ile50Val)
c.175A>G (p.Ile59Val)
c.1030A>G (p.Ile344Val)
c.844A>G (p.Ile282Val)
c.763A>G (p.Ile255Val)
c.469A>G (p.Ile157Val)
c.850A>G (p.Ile284Val)
2g.48688692T>GCA346749645GTF2A1L,LHCGR,STON1-GTF2A1Lc.1105A>C (p.Ile369Leu)
c.948-553A>C (n.948-553A>C)
c.3441+17012T>G (n.3441+17012T>G)
c.948-109A>C (n.948-109A>C)
c.1024A>C (p.Ile342Leu)
c.276+17012T>G (n.276+17012T>G)
c.*220+5532A>C (n.*220+5532A>C)
c.148A>C (p.Ile50Leu)
c.175A>C (p.Ile59Leu)
c.1030A>C (p.Ile344Leu)
c.844A>C (p.Ile282Leu)
c.763A>C (p.Ile255Leu)
c.469A>C (p.Ile157Leu)
c.850A>C (p.Ile284Leu)
 gnomAD v4
2g.48688693C>ACA426124726GTF2A1L,LHCGR,STON1-GTF2A1Lc.1104G>T (p.Leu368=)
c.948-554G>T (n.948-554G>T)
c.3441+17013C>A (n.3441+17013C>A)
c.948-110G>T (n.948-110G>T)
c.1023G>T (p.Leu341=)
c.276+17013C>A (n.276+17013C>A)
c.*220+5531G>T (n.*220+5531G>T)
c.147G>T (p.Leu49=)
c.174G>T (p.Leu58=)
c.1029G>T (p.Leu343=)
c.843G>T (p.Leu281=)
c.762G>T (p.Leu254=)
c.468G>T (p.Leu156=)
c.849G>T (p.Leu283=)
2g.48688693C=CA1248601235GTF2A1L,LHCGR,STON1-GTF2A1Lc.1104G= (p.Leu368=)
c.948-554G= (n.948-554G=)
c.3441+17013C= (n.3441+17013C=)
c.948-110G= (n.948-110G=)
c.1023G= (p.Leu341=)
c.276+17013C= (n.276+17013C=)
c.*220+5531G= (n.*220+5531G=)
c.147G= (p.Leu49=)
c.174G= (p.Leu58=)
c.1029G= (p.Leu343=)
c.843G= (p.Leu281=)
c.762G= (p.Leu254=)
c.468G= (p.Leu156=)
c.849G= (p.Leu283=)
2g.48688693C>GCA426124727GTF2A1L,LHCGR,STON1-GTF2A1Lc.1104G>C (p.Leu368=)
c.948-554G>C (n.948-554G>C)
c.3441+17013C>G (n.3441+17013C>G)
c.948-110G>C (n.948-110G>C)
c.1023G>C (p.Leu341=)
c.276+17013C>G (n.276+17013C>G)
c.*220+5531G>C (n.*220+5531G>C)
c.147G>C (p.Leu49=)
c.174G>C (p.Leu58=)
c.1029G>C (p.Leu343=)
c.843G>C (p.Leu281=)
c.762G>C (p.Leu254=)
c.468G>C (p.Leu156=)
c.849G>C (p.Leu283=)
 gnomAD v4
2g.48688693C>TCA426124728GTF2A1L,LHCGR,STON1-GTF2A1Lc.1104G>A (p.Leu368=)
c.948-554G>A (n.948-554G>A)
c.3441+17013C>T (n.3441+17013C>T)
c.948-110G>A (n.948-110G>A)
c.1023G>A (p.Leu341=)
c.276+17013C>T (n.276+17013C>T)
c.*220+5531G>A (n.*220+5531G>A)
c.147G>A (p.Leu49=)
c.174G>A (p.Leu58=)
c.1029G>A (p.Leu343=)
c.843G>A (p.Leu281=)
c.762G>A (p.Leu254=)
c.468G>A (p.Leu156=)
c.849G>A (p.Leu283=)
 dbSNP gnomAD v2
2g.48688694A=CA1248601236GTF2A1L,LHCGR,STON1-GTF2A1Lc.1103T= (p.Leu368=)
c.948-555T= (n.948-555T=)
c.3441+17014A= (n.3441+17014A=)
c.948-111T= (n.948-111T=)
c.1022T= (p.Leu341=)
c.276+17014A= (n.276+17014A=)
c.*220+5530T= (n.*220+5530T=)
c.146T= (p.Leu49=)
c.173T= (p.Leu58=)
c.1028T= (p.Leu343=)
c.842T= (p.Leu281=)
c.761T= (p.Leu254=)
c.467T= (p.Leu156=)
c.848T= (p.Leu283=)
2g.48688694A>CCA346749649GTF2A1L,LHCGR,STON1-GTF2A1Lc.1103T>G (p.Leu368Arg)
c.948-555T>G (n.948-555T>G)
c.3441+17014A>C (n.3441+17014A>C)
c.948-111T>G (n.948-111T>G)
c.1022T>G (p.Leu341Arg)
c.276+17014A>C (n.276+17014A>C)
c.*220+5530T>G (n.*220+5530T>G)
c.146T>G (p.Leu49Arg)
c.173T>G (p.Leu58Arg)
c.1028T>G (p.Leu343Arg)
c.842T>G (p.Leu281Arg)
c.761T>G (p.Leu254Arg)
c.467T>G (p.Leu156Arg)
c.848T>G (p.Leu283Arg)
2g.48688694A>GCA123932GTF2A1L,LHCGR,STON1-GTF2A1Lc.1103T>C (p.Leu368Pro)
c.948-555T>C (n.948-555T>C)
c.3441+17014A>G (n.3441+17014A>G)
c.948-111T>C (n.948-111T>C)
c.1022T>C (p.Leu341Pro)
c.276+17014A>G (n.276+17014A>G)
c.*220+5530T>C (n.*220+5530T>C)
c.146T>C (p.Leu49Pro)
c.173T>C (p.Leu58Pro)
c.1028T>C (p.Leu343Pro)
c.842T>C (p.Leu281Pro)
c.761T>C (p.Leu254Pro)
c.467T>C (p.Leu156Pro)
c.848T>C (p.Leu283Pro)
 ClinVar dbSNP
2g.48688694A>TCA346749647GTF2A1L,LHCGR,STON1-GTF2A1Lc.1103T>A (p.Leu368Gln)
c.948-555T>A (n.948-555T>A)
c.3441+17014A>T (n.3441+17014A>T)
c.948-111T>A (n.948-111T>A)
c.1022T>A (p.Leu341Gln)
c.276+17014A>T (n.276+17014A>T)
c.*220+5530T>A (n.*220+5530T>A)
c.146T>A (p.Leu49Gln)
c.173T>A (p.Leu58Gln)
c.1028T>A (p.Leu343Gln)
c.842T>A (p.Leu281Gln)
c.761T>A (p.Leu254Gln)
c.467T>A (p.Leu156Gln)
c.848T>A (p.Leu283Gln)
2g.48688695G>ACA426124729GTF2A1L,LHCGR,STON1-GTF2A1Lc.1102C>T (p.Leu368=)
c.948-556C>T (n.948-556C>T)
c.3441+17015G>A (n.3441+17015G>A)
c.948-112C>T (n.948-112C>T)
c.1021C>T (p.Leu341=)
c.276+17015G>A (n.276+17015G>A)
c.*220+5529C>T (n.*220+5529C>T)
c.145C>T (p.Leu49=)
c.172C>T (p.Leu58=)
c.1027C>T (p.Leu343=)
c.841C>T (p.Leu281=)
c.760C>T (p.Leu254=)
c.466C>T (p.Leu156=)
c.847C>T (p.Leu283=)
2g.48688695G>CCA46753272GTF2A1L,LHCGR,STON1-GTF2A1Lc.1102C>G (p.Leu368Val)
c.948-556C>G (n.948-556C>G)
c.3441+17015G>C (n.3441+17015G>C)
c.948-112C>G (n.948-112C>G)
c.1021C>G (p.Leu341Val)
c.276+17015G>C (n.276+17015G>C)
c.*220+5529C>G (n.*220+5529C>G)
c.145C>G (p.Leu49Val)
c.172C>G (p.Leu58Val)
c.1027C>G (p.Leu343Val)
c.841C>G (p.Leu281Val)
c.760C>G (p.Leu254Val)
c.466C>G (p.Leu156Val)
c.847C>G (p.Leu283Val)
 dbSNP
2g.48688695G=CA1248601237GTF2A1L,LHCGR,STON1-GTF2A1Lc.1102C= (p.Leu368=)
c.948-556C= (n.948-556C=)
c.3441+17015G= (n.3441+17015G=)
c.948-112C= (n.948-112C=)
c.1021C= (p.Leu341=)
c.276+17015G= (n.276+17015G=)
c.*220+5529C= (n.*220+5529C=)
c.145C= (p.Leu49=)
c.172C= (p.Leu58=)
c.1027C= (p.Leu343=)
c.841C= (p.Leu281=)
c.760C= (p.Leu254=)
c.466C= (p.Leu156=)
c.847C= (p.Leu283=)
2g.48688695G>TCA346749653GTF2A1L,LHCGR,STON1-GTF2A1Lc.1102C>A (p.Leu368Met)
c.948-556C>A (n.948-556C>A)
c.3441+17015G>T (n.3441+17015G>T)
c.948-112C>A (n.948-112C>A)
c.1021C>A (p.Leu341Met)
c.276+17015G>T (n.276+17015G>T)
c.*220+5529C>A (n.*220+5529C>A)
c.145C>A (p.Leu49Met)
c.172C>A (p.Leu58Met)
c.1027C>A (p.Leu343Met)
c.841C>A (p.Leu281Met)
c.760C>A (p.Leu254Met)
c.466C>A (p.Leu156Met)
c.847C>A (p.Leu283Met)
2g.48688696C>ACA346749655GTF2A1L,LHCGR,STON1-GTF2A1Lc.1101G>T (p.Trp367Cys)
c.948-557G>T (n.948-557G>T)
c.3441+17016C>A (n.3441+17016C>A)
c.948-113G>T (n.948-113G>T)
c.1020G>T (p.Trp340Cys)
c.276+17016C>A (n.276+17016C>A)
c.*220+5528G>T (n.*220+5528G>T)
c.144G>T (p.Trp48Cys)
c.171G>T (p.Trp57Cys)
c.1026G>T (p.Trp342Cys)
c.840G>T (p.Trp280Cys)
c.759G>T (p.Trp253Cys)
c.465G>T (p.Trp155Cys)
c.846G>T (p.Trp282Cys)
2g.48688696C>GCA346749658GTF2A1L,LHCGR,STON1-GTF2A1Lc.1101G>C (p.Trp367Cys)
c.948-557G>C (n.948-557G>C)
c.3441+17016C>G (n.3441+17016C>G)
c.948-113G>C (n.948-113G>C)
c.1020G>C (p.Trp340Cys)
c.276+17016C>G (n.276+17016C>G)
c.*220+5528G>C (n.*220+5528G>C)
c.144G>C (p.Trp48Cys)
c.171G>C (p.Trp57Cys)
c.1026G>C (p.Trp342Cys)
c.840G>C (p.Trp280Cys)
c.759G>C (p.Trp253Cys)
c.465G>C (p.Trp155Cys)
c.846G>C (p.Trp282Cys)
2g.48688696C>TCA346749659GTF2A1L,LHCGR,STON1-GTF2A1Lc.1101G>A (p.Trp367Ter)
c.948-557G>A (n.948-557G>A)
c.3441+17016C>T (n.3441+17016C>T)
c.948-113G>A (n.948-113G>A)
c.1020G>A (p.Trp340Ter)
c.276+17016C>T (n.276+17016C>T)
c.*220+5528G>A (n.*220+5528G>A)
c.144G>A (p.Trp48Ter)
c.171G>A (p.Trp57Ter)
c.1026G>A (p.Trp342Ter)
c.840G>A (p.Trp280Ter)
c.759G>A (p.Trp253Ter)
c.465G>A (p.Trp155Ter)
c.846G>A (p.Trp282Ter)
2g.48688697C>ACA346749663GTF2A1L,LHCGR,STON1-GTF2A1Lc.1100G>T (p.Trp367Leu)
c.948-558G>T (n.948-558G>T)
c.3441+17017C>A (n.3441+17017C>A)
c.948-114G>T (n.948-114G>T)
c.1019G>T (p.Trp340Leu)
c.276+17017C>A (n.276+17017C>A)
c.*220+5527G>T (n.*220+5527G>T)
c.143G>T (p.Trp48Leu)
c.170G>T (p.Trp57Leu)
c.1025G>T (p.Trp342Leu)
c.839G>T (p.Trp280Leu)
c.758G>T (p.Trp253Leu)
c.464G>T (p.Trp155Leu)
c.845G>T (p.Trp282Leu)
2g.48688697C>GCA346749666GTF2A1L,LHCGR,STON1-GTF2A1Lc.1100G>C (p.Trp367Ser)
c.948-558G>C (n.948-558G>C)
c.3441+17017C>G (n.3441+17017C>G)
c.948-114G>C (n.948-114G>C)
c.1019G>C (p.Trp340Ser)
c.276+17017C>G (n.276+17017C>G)
c.*220+5527G>C (n.*220+5527G>C)
c.143G>C (p.Trp48Ser)
c.170G>C (p.Trp57Ser)
c.1025G>C (p.Trp342Ser)
c.839G>C (p.Trp280Ser)
c.758G>C (p.Trp253Ser)
c.464G>C (p.Trp155Ser)
c.845G>C (p.Trp282Ser)
 COSMIC
2g.48688697C>TCA346749670GTF2A1L,LHCGR,STON1-GTF2A1Lc.1100G>A (p.Trp367Ter)
c.948-558G>A (n.948-558G>A)
c.3441+17017C>T (n.3441+17017C>T)
c.948-114G>A (n.948-114G>A)
c.1019G>A (p.Trp340Ter)
c.276+17017C>T (n.276+17017C>T)
c.*220+5527G>A (n.*220+5527G>A)
c.143G>A (p.Trp48Ter)
c.170G>A (p.Trp57Ter)
c.1025G>A (p.Trp342Ter)
c.839G>A (p.Trp280Ter)
c.758G>A (p.Trp253Ter)
c.464G>A (p.Trp155Ter)
c.845G>A (p.Trp282Ter)
2g.48688698A>CCA346749674GTF2A1L,LHCGR,STON1-GTF2A1Lc.1099T>G (p.Trp367Gly)
c.948-559T>G (n.948-559T>G)
c.3441+17018A>C (n.3441+17018A>C)
c.948-115T>G (n.948-115T>G)
c.1018T>G (p.Trp340Gly)
c.276+17018A>C (n.276+17018A>C)
c.*220+5526T>G (n.*220+5526T>G)
c.142T>G (p.Trp48Gly)
c.169T>G (p.Trp57Gly)
c.1024T>G (p.Trp342Gly)
c.838T>G (p.Trp280Gly)
c.757T>G (p.Trp253Gly)
c.463T>G (p.Trp155Gly)
c.844T>G (p.Trp282Gly)
2g.48688698A>GCA346749679GTF2A1L,LHCGR,STON1-GTF2A1Lc.1099T>C (p.Trp367Arg)
c.948-559T>C (n.948-559T>C)
c.3441+17018A>G (n.3441+17018A>G)
c.948-115T>C (n.948-115T>C)
c.1018T>C (p.Trp340Arg)
c.276+17018A>G (n.276+17018A>G)
c.*220+5526T>C (n.*220+5526T>C)
c.142T>C (p.Trp48Arg)
c.169T>C (p.Trp57Arg)
c.1024T>C (p.Trp342Arg)
c.838T>C (p.Trp280Arg)
c.757T>C (p.Trp253Arg)
c.463T>C (p.Trp155Arg)
c.844T>C (p.Trp282Arg)
2g.48688698A>TCA346749677GTF2A1L,LHCGR,STON1-GTF2A1Lc.1099T>A (p.Trp367Arg)
c.948-559T>A (n.948-559T>A)
c.3441+17018A>T (n.3441+17018A>T)
c.948-115T>A (n.948-115T>A)
c.1018T>A (p.Trp340Arg)
c.276+17018A>T (n.276+17018A>T)
c.*220+5526T>A (n.*220+5526T>A)
c.142T>A (p.Trp48Arg)
c.169T>A (p.Trp57Arg)
c.1024T>A (p.Trp342Arg)
c.838T>A (p.Trp280Arg)
c.757T>A (p.Trp253Arg)
c.463T>A (p.Trp155Arg)
c.844T>A (p.Trp282Arg)
2g.48688699A>CCA346749682GTF2A1L,LHCGR,STON1-GTF2A1Lc.1098T>G (p.Ile366Met)
c.948-560T>G (n.948-560T>G)
c.3441+17019A>C (n.3441+17019A>C)
c.948-116T>G (n.948-116T>G)
c.1017T>G (p.Ile339Met)
c.276+17019A>C (n.276+17019A>C)
c.*220+5525T>G (n.*220+5525T>G)
c.141T>G (p.Ile47Met)
c.168T>G (p.Ile56Met)
c.1023T>G (p.Ile341Met)
c.837T>G (p.Ile279Met)
c.756T>G (p.Ile252Met)
c.462T>G (p.Ile154Met)
c.843T>G (p.Ile281Met)
2g.48688699A>GCA426124733GTF2A1L,LHCGR,STON1-GTF2A1Lc.1098T>C (p.Ile366=)
c.948-560T>C (n.948-560T>C)
c.3441+17019A>G (n.3441+17019A>G)
c.948-116T>C (n.948-116T>C)
c.1017T>C (p.Ile339=)
c.276+17019A>G (n.276+17019A>G)
c.*220+5525T>C (n.*220+5525T>C)
c.141T>C (p.Ile47=)
c.168T>C (p.Ile56=)
c.1023T>C (p.Ile341=)
c.837T>C (p.Ile279=)
c.756T>C (p.Ile252=)
c.462T>C (p.Ile154=)
c.843T>C (p.Ile281=)
2g.48688699A>TCA426124734GTF2A1L,LHCGR,STON1-GTF2A1Lc.1098T>A (p.Ile366=)
c.948-560T>A (n.948-560T>A)
c.3441+17019A>T (n.3441+17019A>T)
c.948-116T>A (n.948-116T>A)
c.1017T>A (p.Ile339=)
c.276+17019A>T (n.276+17019A>T)
c.*220+5525T>A (n.*220+5525T>A)
c.141T>A (p.Ile47=)
c.168T>A (p.Ile56=)
c.1023T>A (p.Ile341=)
c.837T>A (p.Ile279=)
c.756T>A (p.Ile252=)
c.462T>A (p.Ile154=)
c.843T>A (p.Ile281=)
2g.48688700A=CA1248601238GTF2A1L,LHCGR,STON1-GTF2A1Lc.1097T= (p.Ile366=)
c.948-561T= (n.948-561T=)
c.3441+17020A= (n.3441+17020A=)
c.948-117T= (n.948-117T=)
c.1016T= (p.Ile339=)
c.276+17020A= (n.276+17020A=)
c.*220+5524T= (n.*220+5524T=)
c.140T= (p.Ile47=)
c.167T= (p.Ile56=)
c.1022T= (p.Ile341=)
c.836T= (p.Ile279=)
c.755T= (p.Ile252=)
c.461T= (p.Ile154=)
c.842T= (p.Ile281=)
2g.48688700A>CCA346749689GTF2A1L,LHCGR,STON1-GTF2A1Lc.1097T>G (p.Ile366Ser)
c.948-561T>G (n.948-561T>G)
c.3441+17020A>C (n.3441+17020A>C)
c.948-117T>G (n.948-117T>G)
c.1016T>G (p.Ile339Ser)
c.276+17020A>C (n.276+17020A>C)
c.*220+5524T>G (n.*220+5524T>G)
c.140T>G (p.Ile47Ser)
c.167T>G (p.Ile56Ser)
c.1022T>G (p.Ile341Ser)
c.836T>G (p.Ile279Ser)
c.755T>G (p.Ile252Ser)
c.461T>G (p.Ile154Ser)
c.842T>G (p.Ile281Ser)
2g.48688700A>GCA46753290GTF2A1L,LHCGR,STON1-GTF2A1Lc.1097T>C (p.Ile366Thr)
c.948-561T>C (n.948-561T>C)
c.3441+17020A>G (n.3441+17020A>G)
c.948-117T>C (n.948-117T>C)
c.1016T>C (p.Ile339Thr)
c.276+17020A>G (n.276+17020A>G)
c.*220+5524T>C (n.*220+5524T>C)
c.140T>C (p.Ile47Thr)
c.167T>C (p.Ile56Thr)
c.1022T>C (p.Ile341Thr)
c.836T>C (p.Ile279Thr)
c.755T>C (p.Ile252Thr)
c.461T>C (p.Ile154Thr)
c.842T>C (p.Ile281Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688700A>TCA346749692GTF2A1L,LHCGR,STON1-GTF2A1Lc.1097T>A (p.Ile366Asn)
c.948-561T>A (n.948-561T>A)
c.3441+17020A>T (n.3441+17020A>T)
c.948-117T>A (n.948-117T>A)
c.1016T>A (p.Ile339Asn)
c.276+17020A>T (n.276+17020A>T)
c.*220+5524T>A (n.*220+5524T>A)
c.140T>A (p.Ile47Asn)
c.167T>A (p.Ile56Asn)
c.1022T>A (p.Ile341Asn)
c.836T>A (p.Ile279Asn)
c.755T>A (p.Ile252Asn)
c.461T>A (p.Ile154Asn)
c.842T>A (p.Ile281Asn)
2g.48688701T>ACA346749694GTF2A1L,LHCGR,STON1-GTF2A1Lc.1096A>T (p.Ile366Phe)
c.948-562A>T (n.948-562A>T)
c.3441+17021T>A (n.3441+17021T>A)
c.948-118A>T (n.948-118A>T)
c.1015A>T (p.Ile339Phe)
c.276+17021T>A (n.276+17021T>A)
c.*220+5523A>T (n.*220+5523A>T)
c.139A>T (p.Ile47Phe)
c.166A>T (p.Ile56Phe)
c.1021A>T (p.Ile341Phe)
c.835A>T (p.Ile279Phe)
c.754A>T (p.Ile252Phe)
c.460A>T (p.Ile154Phe)
c.841A>T (p.Ile281Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.48688701T>CCA346749696GTF2A1L,LHCGR,STON1-GTF2A1Lc.1096A>G (p.Ile366Val)
c.948-562A>G (n.948-562A>G)
c.3441+17021T>C (n.3441+17021T>C)
c.948-118A>G (n.948-118A>G)
c.1015A>G (p.Ile339Val)
c.276+17021T>C (n.276+17021T>C)
c.*220+5523A>G (n.*220+5523A>G)
c.139A>G (p.Ile47Val)
c.166A>G (p.Ile56Val)
c.1021A>G (p.Ile341Val)
c.835A>G (p.Ile279Val)
c.754A>G (p.Ile252Val)
c.460A>G (p.Ile154Val)
c.841A>G (p.Ile281Val)
 COSMIC
2g.48688701T>GCA346749695GTF2A1L,LHCGR,STON1-GTF2A1Lc.1096A>C (p.Ile366Leu)
c.948-562A>C (n.948-562A>C)
c.3441+17021T>G (n.3441+17021T>G)
c.948-118A>C (n.948-118A>C)
c.1015A>C (p.Ile339Leu)
c.276+17021T>G (n.276+17021T>G)
c.*220+5523A>C (n.*220+5523A>C)
c.139A>C (p.Ile47Leu)
c.166A>C (p.Ile56Leu)
c.1021A>C (p.Ile341Leu)
c.835A>C (p.Ile279Leu)
c.754A>C (p.Ile252Leu)
c.460A>C (p.Ile154Leu)
c.841A>C (p.Ile281Leu)
2g.48688701T=CA1248601239GTF2A1L,LHCGR,STON1-GTF2A1Lc.1096A= (p.Ile366=)
c.948-562A= (n.948-562A=)
c.3441+17021T= (n.3441+17021T=)
c.948-118A= (n.948-118A=)
c.1015A= (p.Ile339=)
c.276+17021T= (n.276+17021T=)
c.*220+5523A= (n.*220+5523A=)
c.139A= (p.Ile47=)
c.166A= (p.Ile56=)
c.1021A= (p.Ile341=)
c.835A= (p.Ile279=)
c.754A= (p.Ile252=)
c.460A= (p.Ile154=)
c.841A= (p.Ile281=)
2g.48688702C>ACA46753307GTF2A1L,LHCGR,STON1-GTF2A1Lc.1095G>T (p.Leu365=)
c.948-563G>T (n.948-563G>T)
c.3441+17022C>A (n.3441+17022C>A)
c.948-119G>T (n.948-119G>T)
c.1014G>T (p.Leu338=)
c.276+17022C>A (n.276+17022C>A)
c.*220+5522G>T (n.*220+5522G>T)
c.138G>T (p.Leu46=)
c.165G>T (p.Leu55=)
c.1020G>T (p.Leu340=)
c.834G>T (p.Leu278=)
c.753G>T (p.Leu251=)
c.459G>T (p.Leu153=)
c.840G>T (p.Leu280=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.48688702C=CA1248601240GTF2A1L,LHCGR,STON1-GTF2A1Lc.1095G= (p.Leu365=)
c.948-563G= (n.948-563G=)
c.3441+17022C= (n.3441+17022C=)
c.948-119G= (n.948-119G=)
c.1014G= (p.Leu338=)
c.276+17022C= (n.276+17022C=)
c.*220+5522G= (n.*220+5522G=)
c.138G= (p.Leu46=)
c.165G= (p.Leu55=)
c.1020G= (p.Leu340=)
c.834G= (p.Leu278=)
c.753G= (p.Leu251=)
c.459G= (p.Leu153=)
c.840G= (p.Leu280=)
2g.48688702C>GCA1653081GTF2A1L,LHCGR,STON1-GTF2A1Lc.1095G>C (p.Leu365=)
c.948-563G>C (n.948-563G>C)
c.3441+17022C>G (n.3441+17022C>G)
c.948-119G>C (n.948-119G>C)
c.1014G>C (p.Leu338=)
c.276+17022C>G (n.276+17022C>G)
c.*220+5522G>C (n.*220+5522G>C)
c.138G>C (p.Leu46=)
c.165G>C (p.Leu55=)
c.1020G>C (p.Leu340=)
c.834G>C (p.Leu278=)
c.753G>C (p.Leu251=)
c.459G>C (p.Leu153=)
c.840G>C (p.Leu280=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688702C>TCA426124735GTF2A1L,LHCGR,STON1-GTF2A1Lc.1095G>A (p.Leu365=)
c.948-563G>A (n.948-563G>A)
c.3441+17022C>T (n.3441+17022C>T)
c.948-119G>A (n.948-119G>A)
c.1014G>A (p.Leu338=)
c.276+17022C>T (n.276+17022C>T)
c.*220+5522G>A (n.*220+5522G>A)
c.138G>A (p.Leu46=)
c.165G>A (p.Leu55=)
c.1020G>A (p.Leu340=)
c.834G>A (p.Leu278=)
c.753G>A (p.Leu251=)
c.459G>A (p.Leu153=)
c.840G>A (p.Leu280=)
 ClinVar
2g.48688703A>CCA346749697GTF2A1L,LHCGR,STON1-GTF2A1Lc.1094T>G (p.Leu365Arg)
c.948-564T>G (n.948-564T>G)
c.3441+17023A>C (n.3441+17023A>C)
c.948-120T>G (n.948-120T>G)
c.1013T>G (p.Leu338Arg)
c.276+17023A>C (n.276+17023A>C)
c.*220+5521T>G (n.*220+5521T>G)
c.137T>G (p.Leu46Arg)
c.164T>G (p.Leu55Arg)
c.1019T>G (p.Leu340Arg)
c.833T>G (p.Leu278Arg)
c.752T>G (p.Leu251Arg)
c.458T>G (p.Leu153Arg)
c.839T>G (p.Leu280Arg)
2g.48688703A>GCA346749700GTF2A1L,LHCGR,STON1-GTF2A1Lc.1094T>C (p.Leu365Pro)
c.948-564T>C (n.948-564T>C)
c.3441+17023A>G (n.3441+17023A>G)
c.948-120T>C (n.948-120T>C)
c.1013T>C (p.Leu338Pro)
c.276+17023A>G (n.276+17023A>G)
c.*220+5521T>C (n.*220+5521T>C)
c.137T>C (p.Leu46Pro)
c.164T>C (p.Leu55Pro)
c.1019T>C (p.Leu340Pro)
c.833T>C (p.Leu278Pro)
c.752T>C (p.Leu251Pro)
c.458T>C (p.Leu153Pro)
c.839T>C (p.Leu280Pro)
2g.48688703A>TCA346749701GTF2A1L,LHCGR,STON1-GTF2A1Lc.1094T>A (p.Leu365Gln)
c.948-564T>A (n.948-564T>A)
c.3441+17023A>T (n.3441+17023A>T)
c.948-120T>A (n.948-120T>A)
c.1013T>A (p.Leu338Gln)
c.276+17023A>T (n.276+17023A>T)
c.*220+5521T>A (n.*220+5521T>A)
c.137T>A (p.Leu46Gln)
c.164T>A (p.Leu55Gln)
c.1019T>A (p.Leu340Gln)
c.833T>A (p.Leu278Gln)
c.752T>A (p.Leu251Gln)
c.458T>A (p.Leu153Gln)
c.839T>A (p.Leu280Gln)
2g.48688704G>ACA426124737GTF2A1L,LHCGR,STON1-GTF2A1Lc.1093C>T (p.Leu365=)
c.948-565C>T (n.948-565C>T)
c.3441+17024G>A (n.3441+17024G>A)
c.948-121C>T (n.948-121C>T)
c.1012C>T (p.Leu338=)
c.276+17024G>A (n.276+17024G>A)
c.*220+5520C>T (n.*220+5520C>T)
c.136C>T (p.Leu46=)
c.163C>T (p.Leu55=)
c.1018C>T (p.Leu340=)
c.832C>T (p.Leu278=)
c.751C>T (p.Leu251=)
c.457C>T (p.Leu153=)
c.838C>T (p.Leu280=)
2g.48688704G>CCA346749704GTF2A1L,LHCGR,STON1-GTF2A1Lc.1093C>G (p.Leu365Val)
c.948-565C>G (n.948-565C>G)
c.3441+17024G>C (n.3441+17024G>C)
c.948-121C>G (n.948-121C>G)
c.1012C>G (p.Leu338Val)
c.276+17024G>C (n.276+17024G>C)
c.*220+5520C>G (n.*220+5520C>G)
c.136C>G (p.Leu46Val)
c.163C>G (p.Leu55Val)
c.1018C>G (p.Leu340Val)
c.832C>G (p.Leu278Val)
c.751C>G (p.Leu251Val)
c.457C>G (p.Leu153Val)
c.838C>G (p.Leu280Val)
2g.48688704G>TCA346749708GTF2A1L,LHCGR,STON1-GTF2A1Lc.1093C>A (p.Leu365Met)
c.948-565C>A (n.948-565C>A)
c.3441+17024G>T (n.3441+17024G>T)
c.948-121C>A (n.948-121C>A)
c.1012C>A (p.Leu338Met)
c.276+17024G>T (n.276+17024G>T)
c.*220+5520C>A (n.*220+5520C>A)
c.136C>A (p.Leu46Met)
c.163C>A (p.Leu55Met)
c.1018C>A (p.Leu340Met)
c.832C>A (p.Leu278Met)
c.751C>A (p.Leu251Met)
c.457C>A (p.Leu153Met)
c.838C>A (p.Leu280Met)
2g.48688705G>ACA426124740GTF2A1L,LHCGR,STON1-GTF2A1Lc.1092C>T (p.Val364=)
c.948-566C>T (n.948-566C>T)
c.3441+17025G>A (n.3441+17025G>A)
c.948-122C>T (n.948-122C>T)
c.1011C>T (p.Val337=)
c.276+17025G>A (n.276+17025G>A)
c.*220+5519C>T (n.*220+5519C>T)
c.135C>T (p.Val45=)
c.162C>T (p.Val54=)
c.1017C>T (p.Val339=)
c.831C>T (p.Val277=)
c.750C>T (p.Val250=)
c.456C>T (p.Val152=)
c.837C>T (p.Val279=)
2g.48688705G>CCA426124741GTF2A1L,LHCGR,STON1-GTF2A1Lc.1092C>G (p.Val364=)
c.948-566C>G (n.948-566C>G)
c.3441+17025G>C (n.3441+17025G>C)
c.948-122C>G (n.948-122C>G)
c.1011C>G (p.Val337=)
c.276+17025G>C (n.276+17025G>C)
c.*220+5519C>G (n.*220+5519C>G)
c.135C>G (p.Val45=)
c.162C>G (p.Val54=)
c.1017C>G (p.Val339=)
c.831C>G (p.Val277=)
c.750C>G (p.Val250=)
c.456C>G (p.Val152=)
c.837C>G (p.Val279=)
2g.48688705G>TCA426124742GTF2A1L,LHCGR,STON1-GTF2A1Lc.1092C>A (p.Val364=)
c.948-566C>A (n.948-566C>A)
c.3441+17025G>T (n.3441+17025G>T)
c.948-122C>A (n.948-122C>A)
c.1011C>A (p.Val337=)
c.276+17025G>T (n.276+17025G>T)
c.*220+5519C>A (n.*220+5519C>A)
c.135C>A (p.Val45=)
c.162C>A (p.Val54=)
c.1017C>A (p.Val339=)
c.831C>A (p.Val277=)
c.750C>A (p.Val250=)
c.456C>A (p.Val152=)
c.837C>A (p.Val279=)
2g.48688706A>CCA346749712GTF2A1L,LHCGR,STON1-GTF2A1Lc.1091T>G (p.Val364Gly)
c.948-567T>G (n.948-567T>G)
c.3441+17026A>C (n.3441+17026A>C)
c.948-123T>G (n.948-123T>G)
c.1010T>G (p.Val337Gly)
c.276+17026A>C (n.276+17026A>C)
c.*220+5518T>G (n.*220+5518T>G)
c.134T>G (p.Val45Gly)
c.161T>G (p.Val54Gly)
c.1016T>G (p.Val339Gly)
c.830T>G (p.Val277Gly)
c.749T>G (p.Val250Gly)
c.455T>G (p.Val152Gly)
c.836T>G (p.Val279Gly)
2g.48688706A>GCA346749715GTF2A1L,LHCGR,STON1-GTF2A1Lc.1091T>C (p.Val364Ala)
c.948-567T>C (n.948-567T>C)
c.3441+17026A>G (n.3441+17026A>G)
c.948-123T>C (n.948-123T>C)
c.1010T>C (p.Val337Ala)
c.276+17026A>G (n.276+17026A>G)
c.*220+5518T>C (n.*220+5518T>C)
c.134T>C (p.Val45Ala)
c.161T>C (p.Val54Ala)
c.1016T>C (p.Val339Ala)
c.830T>C (p.Val277Ala)
c.749T>C (p.Val250Ala)
c.455T>C (p.Val152Ala)
c.836T>C (p.Val279Ala)
2g.48688706A>TCA346749716GTF2A1L,LHCGR,STON1-GTF2A1Lc.1091T>A (p.Val364Asp)
c.948-567T>A (n.948-567T>A)
c.3441+17026A>T (n.3441+17026A>T)
c.948-123T>A (n.948-123T>A)
c.1010T>A (p.Val337Asp)
c.276+17026A>T (n.276+17026A>T)
c.*220+5518T>A (n.*220+5518T>A)
c.134T>A (p.Val45Asp)
c.161T>A (p.Val54Asp)
c.1016T>A (p.Val339Asp)
c.830T>A (p.Val277Asp)
c.749T>A (p.Val250Asp)
c.455T>A (p.Val152Asp)
c.836T>A (p.Val279Asp)
2g.48688706dupCA2658992088GTF2A1L,LHCGR,STON1-GTF2A1Lc.1091dup (p.Leu365ProfsTer6)
c.948-567dup (n.948-567dup)
c.3441+17026dup (n.3441+17026dup)
c.948-123dup (n.948-123dup)
c.1010dup (p.Leu338ProfsTer6)
c.276+17026dup (n.276+17026dup)
c.*220+5518dup (n.*220+5518dup)
c.134dup (p.Leu46ProfsTer6)
c.161dup (p.Leu55ProfsTer6)
c.1016dup (p.Leu340ProfsTer6)
c.830dup (p.Leu278ProfsTer6)
c.749dup (p.Leu251ProfsTer6)
c.455dup (p.Leu153ProfsTer6)
c.836dup (p.Leu280ProfsTer6)
 gnomAD v4
2g.48688707C>ACA346749718GTF2A1L,LHCGR,STON1-GTF2A1Lc.1090G>T (p.Val364Phe)
c.948-568G>T (n.948-568G>T)
c.3441+17027C>A (n.3441+17027C>A)
c.948-124G>T (n.948-124G>T)
c.1009G>T (p.Val337Phe)
c.276+17027C>A (n.276+17027C>A)
c.*220+5517G>T (n.*220+5517G>T)
c.133G>T (p.Val45Phe)
c.160G>T (p.Val54Phe)
c.1015G>T (p.Val339Phe)
c.829G>T (p.Val277Phe)
c.748G>T (p.Val250Phe)
c.454G>T (p.Val152Phe)
c.835G>T (p.Val279Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.48688707C=CA1248601241GTF2A1L,LHCGR,STON1-GTF2A1Lc.1090G= (p.Val364=)
c.948-568G= (n.948-568G=)
c.3441+17027C= (n.3441+17027C=)
c.948-124G= (n.948-124G=)
c.1009G= (p.Val337=)
c.276+17027C= (n.276+17027C=)
c.*220+5517G= (n.*220+5517G=)
c.133G= (p.Val45=)
c.160G= (p.Val54=)
c.1015G= (p.Val339=)
c.829G= (p.Val277=)
c.748G= (p.Val250=)
c.454G= (p.Val152=)
c.835G= (p.Val279=)
2g.48688707C>GCA346749729GTF2A1L,LHCGR,STON1-GTF2A1Lc.1090G>C (p.Val364Leu)
c.948-568G>C (n.948-568G>C)
c.3441+17027C>G (n.3441+17027C>G)
c.948-124G>C (n.948-124G>C)
c.1009G>C (p.Val337Leu)
c.276+17027C>G (n.276+17027C>G)
c.*220+5517G>C (n.*220+5517G>C)
c.133G>C (p.Val45Leu)
c.160G>C (p.Val54Leu)
c.1015G>C (p.Val339Leu)
c.829G>C (p.Val277Leu)
c.748G>C (p.Val250Leu)
c.454G>C (p.Val152Leu)
c.835G>C (p.Val279Leu)
2g.48688707C>TCA1653082GTF2A1L,LHCGR,STON1-GTF2A1Lc.1090G>A (p.Val364Ile)
c.948-568G>A (n.948-568G>A)
c.3441+17027C>T (n.3441+17027C>T)
c.948-124G>A (n.948-124G>A)
c.1009G>A (p.Val337Ile)
c.276+17027C>T (n.276+17027C>T)
c.*220+5517G>A (n.*220+5517G>A)
c.133G>A (p.Val45Ile)
c.160G>A (p.Val54Ile)
c.1015G>A (p.Val339Ile)
c.829G>A (p.Val277Ile)
c.748G>A (p.Val250Ile)
c.454G>A (p.Val152Ile)
c.835G>A (p.Val279Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688708C>ACA346749738GTF2A1L,LHCGR,STON1-GTF2A1Lc.1089G>T (p.Arg363Ser)
c.948-569G>T (n.948-569G>T)
c.3441+17028C>A (n.3441+17028C>A)
c.948-125G>T (n.948-125G>T)
c.1008G>T (p.Arg336Ser)
c.276+17028C>A (n.276+17028C>A)
c.*220+5516G>T (n.*220+5516G>T)
c.132G>T (p.Arg44Ser)
c.159G>T (p.Arg53Ser)
c.1014G>T (p.Arg338Ser)
c.828G>T (p.Arg276Ser)
c.747G>T (p.Arg249Ser)
c.453G>T (p.Arg151Ser)
c.834G>T (p.Arg278Ser)
2g.48688708C=CA1248601242GTF2A1L,LHCGR,STON1-GTF2A1Lc.1089G= (p.Arg363=)
c.948-569G= (n.948-569G=)
c.3441+17028C= (n.3441+17028C=)
c.948-125G= (n.948-125G=)
c.1008G= (p.Arg336=)
c.276+17028C= (n.276+17028C=)
c.*220+5516G= (n.*220+5516G=)
c.132G= (p.Arg44=)
c.159G= (p.Arg53=)
c.1014G= (p.Arg338=)
c.828G= (p.Arg276=)
c.747G= (p.Arg249=)
c.453G= (p.Arg151=)
c.834G= (p.Arg278=)
2g.48688708C>GCA346749740GTF2A1L,LHCGR,STON1-GTF2A1Lc.1089G>C (p.Arg363Ser)
c.948-569G>C (n.948-569G>C)
c.3441+17028C>G (n.3441+17028C>G)
c.948-125G>C (n.948-125G>C)
c.1008G>C (p.Arg336Ser)
c.276+17028C>G (n.276+17028C>G)
c.*220+5516G>C (n.*220+5516G>C)
c.132G>C (p.Arg44Ser)
c.159G>C (p.Arg53Ser)
c.1014G>C (p.Arg338Ser)
c.828G>C (p.Arg276Ser)
c.747G>C (p.Arg249Ser)
c.453G>C (p.Arg151Ser)
c.834G>C (p.Arg278Ser)
2g.48688708C>TCA1653083GTF2A1L,LHCGR,STON1-GTF2A1Lc.1089G>A (p.Arg363=)
c.948-569G>A (n.948-569G>A)
c.3441+17028C>T (n.3441+17028C>T)
c.948-125G>A (n.948-125G>A)
c.1008G>A (p.Arg336=)
c.276+17028C>T (n.276+17028C>T)
c.*220+5516G>A (n.*220+5516G>A)
c.132G>A (p.Arg44=)
c.159G>A (p.Arg53=)
c.1014G>A (p.Arg338=)
c.828G>A (p.Arg276=)
c.747G>A (p.Arg249=)
c.453G>A (p.Arg151=)
c.834G>A (p.Arg278=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688709C>ACA346749741GTF2A1L,LHCGR,STON1-GTF2A1Lc.1088G>T (p.Arg363Met)
c.948-570G>T (n.948-570G>T)
c.3441+17029C>A (n.3441+17029C>A)
c.948-126G>T (n.948-126G>T)
c.1007G>T (p.Arg336Met)
c.276+17029C>A (n.276+17029C>A)
c.*220+5515G>T (n.*220+5515G>T)
c.131G>T (p.Arg44Met)
c.158G>T (p.Arg53Met)
c.1013G>T (p.Arg338Met)
c.827G>T (p.Arg276Met)
c.746G>T (p.Arg249Met)
c.452G>T (p.Arg151Met)
c.833G>T (p.Arg278Met)
2g.48688709C>GCA346749743GTF2A1L,LHCGR,STON1-GTF2A1Lc.1088G>C (p.Arg363Thr)
c.948-570G>C (n.948-570G>C)
c.3441+17029C>G (n.3441+17029C>G)
c.948-126G>C (n.948-126G>C)
c.1007G>C (p.Arg336Thr)
c.276+17029C>G (n.276+17029C>G)
c.*220+5515G>C (n.*220+5515G>C)
c.131G>C (p.Arg44Thr)
c.158G>C (p.Arg53Thr)
c.1013G>C (p.Arg338Thr)
c.827G>C (p.Arg276Thr)
c.746G>C (p.Arg249Thr)
c.452G>C (p.Arg151Thr)
c.833G>C (p.Arg278Thr)
2g.48688709C>TCA346749744GTF2A1L,LHCGR,STON1-GTF2A1Lc.1088G>A (p.Arg363Lys)
c.948-570G>A (n.948-570G>A)
c.3441+17029C>T (n.3441+17029C>T)
c.948-126G>A (n.948-126G>A)
c.1007G>A (p.Arg336Lys)
c.276+17029C>T (n.276+17029C>T)
c.*220+5515G>A (n.*220+5515G>A)
c.131G>A (p.Arg44Lys)
c.158G>A (p.Arg53Lys)
c.1013G>A (p.Arg338Lys)
c.827G>A (p.Arg276Lys)
c.746G>A (p.Arg249Lys)
c.452G>A (p.Arg151Lys)
c.833G>A (p.Arg278Lys)
2g.48688710T>ACA346749746GTF2A1L,LHCGR,STON1-GTF2A1Lc.1087A>T (p.Arg363Trp)
c.948-571A>T (n.948-571A>T)
c.3441+17030T>A (n.3441+17030T>A)
c.948-127A>T (n.948-127A>T)
c.1006A>T (p.Arg336Trp)
c.276+17030T>A (n.276+17030T>A)
c.*220+5514A>T (n.*220+5514A>T)
c.130A>T (p.Arg44Trp)
c.157A>T (p.Arg53Trp)
c.1012A>T (p.Arg338Trp)
c.826A>T (p.Arg276Trp)
c.745A>T (p.Arg249Trp)
c.451A>T (p.Arg151Trp)
c.832A>T (p.Arg278Trp)
2g.48688710T>CCA346749749GTF2A1L,LHCGR,STON1-GTF2A1Lc.1087A>G (p.Arg363Gly)
c.948-571A>G (n.948-571A>G)
c.3441+17030T>C (n.3441+17030T>C)
c.948-127A>G (n.948-127A>G)
c.1006A>G (p.Arg336Gly)
c.276+17030T>C (n.276+17030T>C)
c.*220+5514A>G (n.*220+5514A>G)
c.130A>G (p.Arg44Gly)
c.157A>G (p.Arg53Gly)
c.1012A>G (p.Arg338Gly)
c.826A>G (p.Arg276Gly)
c.745A>G (p.Arg249Gly)
c.451A>G (p.Arg151Gly)
c.832A>G (p.Arg278Gly)
2g.48688710T>GCA426124744GTF2A1L,LHCGR,STON1-GTF2A1Lc.1087A>C (p.Arg363=)
c.948-571A>C (n.948-571A>C)
c.3441+17030T>G (n.3441+17030T>G)
c.948-127A>C (n.948-127A>C)
c.1006A>C (p.Arg336=)
c.276+17030T>G (n.276+17030T>G)
c.*220+5514A>C (n.*220+5514A>C)
c.130A>C (p.Arg44=)
c.157A>C (p.Arg53=)
c.1012A>C (p.Arg338=)
c.826A>C (p.Arg276=)
c.745A>C (p.Arg249=)
c.451A>C (p.Arg151=)
c.832A>C (p.Arg278=)
2g.48688711A>CCA426124750GTF2A1L,LHCGR,STON1-GTF2A1Lc.1086T>G (p.Leu362=)
c.948-572T>G (n.948-572T>G)
c.3441+17031A>C (n.3441+17031A>C)
c.948-128T>G (n.948-128T>G)
c.1005T>G (p.Leu335=)
c.276+17031A>C (n.276+17031A>C)
c.*220+5513T>G (n.*220+5513T>G)
c.129T>G (p.Leu43=)
c.156T>G (p.Leu52=)
c.1011T>G (p.Leu337=)
c.825T>G (p.Leu275=)
c.744T>G (p.Leu248=)
c.450T>G (p.Leu150=)
c.831T>G (p.Leu277=)
2g.48688711A>GCA426124746GTF2A1L,LHCGR,STON1-GTF2A1Lc.1086T>C (p.Leu362=)
c.948-572T>C (n.948-572T>C)
c.3441+17031A>G (n.3441+17031A>G)
c.948-128T>C (n.948-128T>C)
c.1005T>C (p.Leu335=)
c.276+17031A>G (n.276+17031A>G)
c.*220+5513T>C (n.*220+5513T>C)
c.129T>C (p.Leu43=)
c.156T>C (p.Leu52=)
c.1011T>C (p.Leu337=)
c.825T>C (p.Leu275=)
c.744T>C (p.Leu248=)
c.450T>C (p.Leu150=)
c.831T>C (p.Leu277=)
2g.48688711A>TCA426124748GTF2A1L,LHCGR,STON1-GTF2A1Lc.1086T>A (p.Leu362=)
c.948-572T>A (n.948-572T>A)
c.3441+17031A>T (n.3441+17031A>T)
c.948-128T>A (n.948-128T>A)
c.1005T>A (p.Leu335=)
c.276+17031A>T (n.276+17031A>T)
c.*220+5513T>A (n.*220+5513T>A)
c.129T>A (p.Leu43=)
c.156T>A (p.Leu52=)
c.1011T>A (p.Leu337=)
c.825T>A (p.Leu275=)
c.744T>A (p.Leu248=)
c.450T>A (p.Leu150=)
c.831T>A (p.Leu277=)
2g.48688712A>CCA346749751GTF2A1L,LHCGR,STON1-GTF2A1Lc.1085T>G (p.Leu362Arg)
c.948-573T>G (n.948-573T>G)
c.3441+17032A>C (n.3441+17032A>C)
c.948-129T>G (n.948-129T>G)
c.1004T>G (p.Leu335Arg)
c.276+17032A>C (n.276+17032A>C)
c.*220+5512T>G (n.*220+5512T>G)
c.128T>G (p.Leu43Arg)
c.155T>G (p.Leu52Arg)
c.1010T>G (p.Leu337Arg)
c.824T>G (p.Leu275Arg)
c.743T>G (p.Leu248Arg)
c.449T>G (p.Leu150Arg)
c.830T>G (p.Leu277Arg)
2g.48688712A>GCA346749755GTF2A1L,LHCGR,STON1-GTF2A1Lc.1085T>C (p.Leu362Pro)
c.948-573T>C (n.948-573T>C)
c.3441+17032A>G (n.3441+17032A>G)
c.948-129T>C (n.948-129T>C)
c.1004T>C (p.Leu335Pro)
c.276+17032A>G (n.276+17032A>G)
c.*220+5512T>C (n.*220+5512T>C)
c.128T>C (p.Leu43Pro)
c.155T>C (p.Leu52Pro)
c.1010T>C (p.Leu337Pro)
c.824T>C (p.Leu275Pro)
c.743T>C (p.Leu248Pro)
c.449T>C (p.Leu150Pro)
c.830T>C (p.Leu277Pro)
2g.48688712A>TCA346749768GTF2A1L,LHCGR,STON1-GTF2A1Lc.1085T>A (p.Leu362His)
c.948-573T>A (n.948-573T>A)
c.3441+17032A>T (n.3441+17032A>T)
c.948-129T>A (n.948-129T>A)
c.1004T>A (p.Leu335His)
c.276+17032A>T (n.276+17032A>T)
c.*220+5512T>A (n.*220+5512T>A)
c.128T>A (p.Leu43His)
c.155T>A (p.Leu52His)
c.1010T>A (p.Leu337His)
c.824T>A (p.Leu275His)
c.743T>A (p.Leu248His)
c.449T>A (p.Leu150His)
c.830T>A (p.Leu277His)
 gnomAD v4
2g.48688713G>ACA346749771GTF2A1L,LHCGR,STON1-GTF2A1Lc.1084C>T (p.Leu362Phe)
c.948-574C>T (n.948-574C>T)
c.3441+17033G>A (n.3441+17033G>A)
c.948-130C>T (n.948-130C>T)
c.1003C>T (p.Leu335Phe)
c.276+17033G>A (n.276+17033G>A)
c.*220+5511C>T (n.*220+5511C>T)
c.127C>T (p.Leu43Phe)
c.154C>T (p.Leu52Phe)
c.1009C>T (p.Leu337Phe)
c.823C>T (p.Leu275Phe)
c.742C>T (p.Leu248Phe)
c.448C>T (p.Leu150Phe)
c.829C>T (p.Leu277Phe)
 gnomAD v4
2g.48688713G>CCA346749777GTF2A1L,LHCGR,STON1-GTF2A1Lc.1084C>G (p.Leu362Val)
c.948-574C>G (n.948-574C>G)
c.3441+17033G>C (n.3441+17033G>C)
c.948-130C>G (n.948-130C>G)
c.1003C>G (p.Leu335Val)
c.276+17033G>C (n.276+17033G>C)
c.*220+5511C>G (n.*220+5511C>G)
c.127C>G (p.Leu43Val)
c.154C>G (p.Leu52Val)
c.1009C>G (p.Leu337Val)
c.823C>G (p.Leu275Val)
c.742C>G (p.Leu248Val)
c.448C>G (p.Leu150Val)
c.829C>G (p.Leu277Val)
2g.48688713G>TCA346749775GTF2A1L,LHCGR,STON1-GTF2A1Lc.1084C>A (p.Leu362Ile)
c.948-574C>A (n.948-574C>A)
c.3441+17033G>T (n.3441+17033G>T)
c.948-130C>A (n.948-130C>A)
c.1003C>A (p.Leu335Ile)
c.276+17033G>T (n.276+17033G>T)
c.*220+5511C>A (n.*220+5511C>A)
c.127C>A (p.Leu43Ile)
c.154C>A (p.Leu52Ile)
c.1009C>A (p.Leu337Ile)
c.823C>A (p.Leu275Ile)
c.742C>A (p.Leu248Ile)
c.448C>A (p.Leu150Ile)
c.829C>A (p.Leu277Ile)
2g.48688714G>ACA426124751GTF2A1L,LHCGR,STON1-GTF2A1Lc.1083C>T (p.Phe361=)
c.948-575C>T (n.948-575C>T)
c.3441+17034G>A (n.3441+17034G>A)
c.948-131C>T (n.948-131C>T)
c.1002C>T (p.Phe334=)
c.276+17034G>A (n.276+17034G>A)
c.*220+5510C>T (n.*220+5510C>T)
c.126C>T (p.Phe42=)
c.153C>T (p.Phe51=)
c.1008C>T (p.Phe336=)
c.822C>T (p.Phe274=)
c.741C>T (p.Phe247=)
c.447C>T (p.Phe149=)
c.828C>T (p.Phe276=)
 COSMIC
2g.48688714G>CCA346749780GTF2A1L,LHCGR,STON1-GTF2A1Lc.1083C>G (p.Phe361Leu)
c.948-575C>G (n.948-575C>G)
c.3441+17034G>C (n.3441+17034G>C)
c.948-131C>G (n.948-131C>G)
c.1002C>G (p.Phe334Leu)
c.276+17034G>C (n.276+17034G>C)
c.*220+5510C>G (n.*220+5510C>G)
c.126C>G (p.Phe42Leu)
c.153C>G (p.Phe51Leu)
c.1008C>G (p.Phe336Leu)
c.822C>G (p.Phe274Leu)
c.741C>G (p.Phe247Leu)
c.447C>G (p.Phe149Leu)
c.828C>G (p.Phe276Leu)
2g.48688714G>TCA346749781GTF2A1L,LHCGR,STON1-GTF2A1Lc.1083C>A (p.Phe361Leu)
c.948-575C>A (n.948-575C>A)
c.3441+17034G>T (n.3441+17034G>T)
c.948-131C>A (n.948-131C>A)
c.1002C>A (p.Phe334Leu)
c.276+17034G>T (n.276+17034G>T)
c.*220+5510C>A (n.*220+5510C>A)
c.126C>A (p.Phe42Leu)
c.153C>A (p.Phe51Leu)
c.1008C>A (p.Phe336Leu)
c.822C>A (p.Phe274Leu)
c.741C>A (p.Phe247Leu)
c.447C>A (p.Phe149Leu)
c.828C>A (p.Phe276Leu)
2g.48688715A=CA1248601243GTF2A1L,LHCGR,STON1-GTF2A1Lc.1082T= (p.Phe361=)
c.948-576T= (n.948-576T=)
c.3441+17035A= (n.3441+17035A=)
c.948-132T= (n.948-132T=)
c.1001T= (p.Phe334=)
c.276+17035A= (n.276+17035A=)
c.*220+5509T= (n.*220+5509T=)
c.125T= (p.Phe42=)
c.152T= (p.Phe51=)
c.1007T= (p.Phe336=)
c.821T= (p.Phe274=)
c.740T= (p.Phe247=)
c.446T= (p.Phe149=)
c.827T= (p.Phe276=)
2g.48688715A>CCA346749782GTF2A1L,LHCGR,STON1-GTF2A1Lc.1082T>G (p.Phe361Cys)
c.948-576T>G (n.948-576T>G)
c.3441+17035A>C (n.3441+17035A>C)
c.948-132T>G (n.948-132T>G)
c.1001T>G (p.Phe334Cys)
c.276+17035A>C (n.276+17035A>C)
c.*220+5509T>G (n.*220+5509T>G)
c.125T>G (p.Phe42Cys)
c.152T>G (p.Phe51Cys)
c.1007T>G (p.Phe336Cys)
c.821T>G (p.Phe274Cys)
c.740T>G (p.Phe247Cys)
c.446T>G (p.Phe149Cys)
c.827T>G (p.Phe276Cys)
 COSMIC
2g.48688715A>GCA1653084GTF2A1L,LHCGR,STON1-GTF2A1Lc.1082T>C (p.Phe361Ser)
c.948-576T>C (n.948-576T>C)
c.3441+17035A>G (n.3441+17035A>G)
c.948-132T>C (n.948-132T>C)
c.1001T>C (p.Phe334Ser)
c.276+17035A>G (n.276+17035A>G)
c.*220+5509T>C (n.*220+5509T>C)
c.125T>C (p.Phe42Ser)
c.152T>C (p.Phe51Ser)
c.1007T>C (p.Phe336Ser)
c.821T>C (p.Phe274Ser)
c.740T>C (p.Phe247Ser)
c.446T>C (p.Phe149Ser)
c.827T>C (p.Phe276Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688715A>TCA346749785GTF2A1L,LHCGR,STON1-GTF2A1Lc.1082T>A (p.Phe361Tyr)
c.948-576T>A (n.948-576T>A)
c.3441+17035A>T (n.3441+17035A>T)
c.948-132T>A (n.948-132T>A)
c.1001T>A (p.Phe334Tyr)
c.276+17035A>T (n.276+17035A>T)
c.*220+5509T>A (n.*220+5509T>A)
c.125T>A (p.Phe42Tyr)
c.152T>A (p.Phe51Tyr)
c.1007T>A (p.Phe336Tyr)
c.821T>A (p.Phe274Tyr)
c.740T>A (p.Phe247Tyr)
c.446T>A (p.Phe149Tyr)
c.827T>A (p.Phe276Tyr)
2g.48688716A>CCA346749786GTF2A1L,LHCGR,STON1-GTF2A1Lc.1081T>G (p.Phe361Val)
c.948-577T>G (n.948-577T>G)
c.3441+17036A>C (n.3441+17036A>C)
c.948-133T>G (n.948-133T>G)
c.1000T>G (p.Phe334Val)
c.276+17036A>C (n.276+17036A>C)
c.*220+5508T>G (n.*220+5508T>G)
c.124T>G (p.Phe42Val)
c.151T>G (p.Phe51Val)
c.1006T>G (p.Phe336Val)
c.820T>G (p.Phe274Val)
c.739T>G (p.Phe247Val)
c.445T>G (p.Phe149Val)
c.826T>G (p.Phe276Val)
2g.48688716A>GCA346749789GTF2A1L,LHCGR,STON1-GTF2A1Lc.1081T>C (p.Phe361Leu)
c.948-577T>C (n.948-577T>C)
c.3441+17036A>G (n.3441+17036A>G)
c.948-133T>C (n.948-133T>C)
c.1000T>C (p.Phe334Leu)
c.276+17036A>G (n.276+17036A>G)
c.*220+5508T>C (n.*220+5508T>C)
c.124T>C (p.Phe42Leu)
c.151T>C (p.Phe51Leu)
c.1006T>C (p.Phe336Leu)
c.820T>C (p.Phe274Leu)
c.739T>C (p.Phe247Leu)
c.445T>C (p.Phe149Leu)
c.826T>C (p.Phe276Leu)
2g.48688716A>TCA346749788GTF2A1L,LHCGR,STON1-GTF2A1Lc.1081T>A (p.Phe361Ile)
c.948-577T>A (n.948-577T>A)
c.3441+17036A>T (n.3441+17036A>T)
c.948-133T>A (n.948-133T>A)
c.1000T>A (p.Phe334Ile)
c.276+17036A>T (n.276+17036A>T)
c.*220+5508T>A (n.*220+5508T>A)
c.124T>A (p.Phe42Ile)
c.151T>A (p.Phe51Ile)
c.1006T>A (p.Phe336Ile)
c.820T>A (p.Phe274Ile)
c.739T>A (p.Phe247Ile)
c.445T>A (p.Phe149Ile)
c.826T>A (p.Phe276Ile)
2g.48688717G>ACA426124753GTF2A1L,LHCGR,STON1-GTF2A1Lc.1080C>T (p.Asp360=)
c.948-578C>T (n.948-578C>T)
c.3441+17037G>A (n.3441+17037G>A)
c.948-134C>T (n.948-134C>T)
c.999C>T (p.Asp333=)
c.276+17037G>A (n.276+17037G>A)
c.*220+5507C>T (n.*220+5507C>T)
c.123C>T (p.Asp41=)
c.150C>T (p.Asp50=)
c.1005C>T (p.Asp335=)
c.819C>T (p.Asp273=)
c.738C>T (p.Asp246=)
c.444C>T (p.Asp148=)
c.825C>T (p.Asp275=)
2g.48688717G>CCA346749792GTF2A1L,LHCGR,STON1-GTF2A1Lc.1080C>G (p.Asp360Glu)
c.948-578C>G (n.948-578C>G)
c.3441+17037G>C (n.3441+17037G>C)
c.948-134C>G (n.948-134C>G)
c.999C>G (p.Asp333Glu)
c.276+17037G>C (n.276+17037G>C)
c.*220+5507C>G (n.*220+5507C>G)
c.123C>G (p.Asp41Glu)
c.150C>G (p.Asp50Glu)
c.1005C>G (p.Asp335Glu)
c.819C>G (p.Asp273Glu)
c.738C>G (p.Asp246Glu)
c.444C>G (p.Asp148Glu)
c.825C>G (p.Asp275Glu)
2g.48688717G>TCA346749797GTF2A1L,LHCGR,STON1-GTF2A1Lc.1080C>A (p.Asp360Glu)
c.948-578C>A (n.948-578C>A)
c.3441+17037G>T (n.3441+17037G>T)
c.948-134C>A (n.948-134C>A)
c.999C>A (p.Asp333Glu)
c.276+17037G>T (n.276+17037G>T)
c.*220+5507C>A (n.*220+5507C>A)
c.123C>A (p.Asp41Glu)
c.150C>A (p.Asp50Glu)
c.1005C>A (p.Asp335Glu)
c.819C>A (p.Asp273Glu)
c.738C>A (p.Asp246Glu)
c.444C>A (p.Asp148Glu)
c.825C>A (p.Asp275Glu)
2g.48688718T>ACA346749802GTF2A1L,LHCGR,STON1-GTF2A1Lc.1079A>T (p.Asp360Val)
c.948-579A>T (n.948-579A>T)
c.3441+17038T>A (n.3441+17038T>A)
c.948-135A>T (n.948-135A>T)
c.998A>T (p.Asp333Val)
c.276+17038T>A (n.276+17038T>A)
c.*220+5506A>T (n.*220+5506A>T)
c.122A>T (p.Asp41Val)
c.149A>T (p.Asp50Val)
c.1004A>T (p.Asp335Val)
c.818A>T (p.Asp273Val)
c.737A>T (p.Asp246Val)
c.443A>T (p.Asp148Val)
c.824A>T (p.Asp275Val)
2g.48688718T>CCA346749804GTF2A1L,LHCGR,STON1-GTF2A1Lc.1079A>G (p.Asp360Gly)
c.948-579A>G (n.948-579A>G)
c.3441+17038T>C (n.3441+17038T>C)
c.948-135A>G (n.948-135A>G)
c.998A>G (p.Asp333Gly)
c.276+17038T>C (n.276+17038T>C)
c.*220+5506A>G (n.*220+5506A>G)
c.122A>G (p.Asp41Gly)
c.149A>G (p.Asp50Gly)
c.1004A>G (p.Asp335Gly)
c.818A>G (p.Asp273Gly)
c.737A>G (p.Asp246Gly)
c.443A>G (p.Asp148Gly)
c.824A>G (p.Asp275Gly)
2g.48688718T>GCA346749807GTF2A1L,LHCGR,STON1-GTF2A1Lc.1079A>C (p.Asp360Ala)
c.948-579A>C (n.948-579A>C)
c.3441+17038T>G (n.3441+17038T>G)
c.948-135A>C (n.948-135A>C)
c.998A>C (p.Asp333Ala)
c.276+17038T>G (n.276+17038T>G)
c.*220+5506A>C (n.*220+5506A>C)
c.122A>C (p.Asp41Ala)
c.149A>C (p.Asp50Ala)
c.1004A>C (p.Asp335Ala)
c.818A>C (p.Asp273Ala)
c.737A>C (p.Asp246Ala)
c.443A>C (p.Asp148Ala)
c.824A>C (p.Asp275Ala)
2g.48688719_48688721delCA2749836838GTF2A1L,LHCGR,STON1-GTF2A1Lc.1077_1079del (p.Asp360del)
c.948-581_948-579del (n.948-581_948-579del)
c.3441+17039_3441+17041del (n.3441+17039_3441+17041del)
c.948-137_948-135del (n.948-137_948-135del)
c.996_998del (p.Asp333del)
c.276+17039_276+17041del (n.276+17039_276+17041del)
c.*220+5504_*220+5506del (n.*220+5504_*220+5506del)
c.120_122del (p.Asp41del)
c.147_149del (p.Asp50del)
c.1002_1004del (p.Asp335del)
c.816_818del (p.Asp273del)
c.735_737del (p.Asp246del)
c.441_443del (p.Asp148del)
c.822_824del (p.Asp275del)
2g.48688719C>ACA346749810GTF2A1L,LHCGR,STON1-GTF2A1Lc.1078G>T (p.Asp360Tyr)
c.948-580G>T (n.948-580G>T)
c.3441+17039C>A (n.3441+17039C>A)
c.948-136G>T (n.948-136G>T)
c.997G>T (p.Asp333Tyr)
c.276+17039C>A (n.276+17039C>A)
c.*220+5505G>T (n.*220+5505G>T)
c.121G>T (p.Asp41Tyr)
c.148G>T (p.Asp50Tyr)
c.1003G>T (p.Asp335Tyr)
c.817G>T (p.Asp273Tyr)
c.736G>T (p.Asp246Tyr)
c.442G>T (p.Asp148Tyr)
c.823G>T (p.Asp275Tyr)
 gnomAD v4
2g.48688719C>GCA346749812GTF2A1L,LHCGR,STON1-GTF2A1Lc.1078G>C (p.Asp360His)
c.948-580G>C (n.948-580G>C)
c.3441+17039C>G (n.3441+17039C>G)
c.948-136G>C (n.948-136G>C)
c.997G>C (p.Asp333His)
c.276+17039C>G (n.276+17039C>G)
c.*220+5505G>C (n.*220+5505G>C)
c.121G>C (p.Asp41His)
c.148G>C (p.Asp50His)
c.1003G>C (p.Asp335His)
c.817G>C (p.Asp273His)
c.736G>C (p.Asp246His)
c.442G>C (p.Asp148His)
c.823G>C (p.Asp275His)
 gnomAD v4
2g.48688719C>TCA346749820GTF2A1L,LHCGR,STON1-GTF2A1Lc.1078G>A (p.Asp360Asn)
c.948-580G>A (n.948-580G>A)
c.3441+17039C>T (n.3441+17039C>T)
c.948-136G>A (n.948-136G>A)
c.997G>A (p.Asp333Asn)
c.276+17039C>T (n.276+17039C>T)
c.*220+5505G>A (n.*220+5505G>A)
c.121G>A (p.Asp41Asn)
c.148G>A (p.Asp50Asn)
c.1003G>A (p.Asp335Asn)
c.817G>A (p.Asp273Asn)
c.736G>A (p.Asp246Asn)
c.442G>A (p.Asp148Asn)
c.823G>A (p.Asp275Asn)
2g.48688720A>CCA346749822GTF2A1L,LHCGR,STON1-GTF2A1Lc.1077T>G (p.Tyr359Ter)
c.948-581T>G (n.948-581T>G)
c.3441+17040A>C (n.3441+17040A>C)
c.948-137T>G (n.948-137T>G)
c.996T>G (p.Tyr332Ter)
c.276+17040A>C (n.276+17040A>C)
c.*220+5504T>G (n.*220+5504T>G)
c.120T>G (p.Tyr40Ter)
c.147T>G (p.Tyr49Ter)
c.1002T>G (p.Tyr334Ter)
c.816T>G (p.Tyr272Ter)
c.735T>G (p.Tyr245Ter)
c.441T>G (p.Tyr147Ter)
c.822T>G (p.Tyr274Ter)
2g.48688720A>GCA426124755GTF2A1L,LHCGR,STON1-GTF2A1Lc.1077T>C (p.Tyr359=)
c.948-581T>C (n.948-581T>C)
c.3441+17040A>G (n.3441+17040A>G)
c.948-137T>C (n.948-137T>C)
c.996T>C (p.Tyr332=)
c.276+17040A>G (n.276+17040A>G)
c.*220+5504T>C (n.*220+5504T>C)
c.120T>C (p.Tyr40=)
c.147T>C (p.Tyr49=)
c.1002T>C (p.Tyr334=)
c.816T>C (p.Tyr272=)
c.735T>C (p.Tyr245=)
c.441T>C (p.Tyr147=)
c.822T>C (p.Tyr274=)
2g.48688720A>TCA346749824GTF2A1L,LHCGR,STON1-GTF2A1Lc.1077T>A (p.Tyr359Ter)
c.948-581T>A (n.948-581T>A)
c.3441+17040A>T (n.3441+17040A>T)
c.948-137T>A (n.948-137T>A)
c.996T>A (p.Tyr332Ter)
c.276+17040A>T (n.276+17040A>T)
c.*220+5504T>A (n.*220+5504T>A)
c.120T>A (p.Tyr40Ter)
c.147T>A (p.Tyr49Ter)
c.1002T>A (p.Tyr334Ter)
c.816T>A (p.Tyr272Ter)
c.735T>A (p.Tyr245Ter)
c.441T>A (p.Tyr147Ter)
c.822T>A (p.Tyr274Ter)
2g.48688721T>ACA346749825GTF2A1L,LHCGR,STON1-GTF2A1Lc.1076A>T (p.Tyr359Phe)
c.948-582A>T (n.948-582A>T)
c.3441+17041T>A (n.3441+17041T>A)
c.948-138A>T (n.948-138A>T)
c.995A>T (p.Tyr332Phe)
c.276+17041T>A (n.276+17041T>A)
c.*220+5503A>T (n.*220+5503A>T)
c.119A>T (p.Tyr40Phe)
c.146A>T (p.Tyr49Phe)
c.1001A>T (p.Tyr334Phe)
c.815A>T (p.Tyr272Phe)
c.734A>T (p.Tyr245Phe)
c.440A>T (p.Tyr147Phe)
c.821A>T (p.Tyr274Phe)
2g.48688721T>CCA346749827GTF2A1L,LHCGR,STON1-GTF2A1Lc.1076A>G (p.Tyr359Cys)
c.948-582A>G (n.948-582A>G)
c.3441+17041T>C (n.3441+17041T>C)
c.948-138A>G (n.948-138A>G)
c.995A>G (p.Tyr332Cys)
c.276+17041T>C (n.276+17041T>C)
c.*220+5503A>G (n.*220+5503A>G)
c.119A>G (p.Tyr40Cys)
c.146A>G (p.Tyr49Cys)
c.1001A>G (p.Tyr334Cys)
c.815A>G (p.Tyr272Cys)
c.734A>G (p.Tyr245Cys)
c.440A>G (p.Tyr147Cys)
c.821A>G (p.Tyr274Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.48688721T>GCA346749828GTF2A1L,LHCGR,STON1-GTF2A1Lc.1076A>C (p.Tyr359Ser)
c.948-582A>C (n.948-582A>C)
c.3441+17041T>G (n.3441+17041T>G)
c.948-138A>C (n.948-138A>C)
c.995A>C (p.Tyr332Ser)
c.276+17041T>G (n.276+17041T>G)
c.*220+5503A>C (n.*220+5503A>C)
c.119A>C (p.Tyr40Ser)
c.146A>C (p.Tyr49Ser)
c.1001A>C (p.Tyr334Ser)
c.815A>C (p.Tyr272Ser)
c.734A>C (p.Tyr245Ser)
c.440A>C (p.Tyr147Ser)
c.821A>C (p.Tyr274Ser)
2g.48688721T=CA1248601244GTF2A1L,LHCGR,STON1-GTF2A1Lc.1076A= (p.Tyr359=)
c.948-582A= (n.948-582A=)
c.3441+17041T= (n.3441+17041T=)
c.948-138A= (n.948-138A=)
c.995A= (p.Tyr332=)
c.276+17041T= (n.276+17041T=)
c.*220+5503A= (n.*220+5503A=)
c.119A= (p.Tyr40=)
c.146A= (p.Tyr49=)
c.1001A= (p.Tyr334=)
c.815A= (p.Tyr272=)
c.734A= (p.Tyr245=)
c.440A= (p.Tyr147=)
c.821A= (p.Tyr274=)
2g.48688722A>CCA346749831GTF2A1L,LHCGR,STON1-GTF2A1Lc.1075T>G (p.Tyr359Asp)
c.948-583T>G (n.948-583T>G)
c.3441+17042A>C (n.3441+17042A>C)
c.948-139T>G (n.948-139T>G)
c.994T>G (p.Tyr332Asp)
c.276+17042A>C (n.276+17042A>C)
c.*220+5502T>G (n.*220+5502T>G)
c.118T>G (p.Tyr40Asp)
c.145T>G (p.Tyr49Asp)
c.1000T>G (p.Tyr334Asp)
c.814T>G (p.Tyr272Asp)
c.733T>G (p.Tyr245Asp)
c.439T>G (p.Tyr147Asp)
c.820T>G (p.Tyr274Asp)
2g.48688722A>GCA346749835GTF2A1L,LHCGR,STON1-GTF2A1Lc.1075T>C (p.Tyr359His)
c.948-583T>C (n.948-583T>C)
c.3441+17042A>G (n.3441+17042A>G)
c.948-139T>C (n.948-139T>C)
c.994T>C (p.Tyr332His)
c.276+17042A>G (n.276+17042A>G)
c.*220+5502T>C (n.*220+5502T>C)
c.118T>C (p.Tyr40His)
c.145T>C (p.Tyr49His)
c.1000T>C (p.Tyr334His)
c.814T>C (p.Tyr272His)
c.733T>C (p.Tyr245His)
c.439T>C (p.Tyr147His)
c.820T>C (p.Tyr274His)
2g.48688722A>TCA346749834GTF2A1L,LHCGR,STON1-GTF2A1Lc.1075T>A (p.Tyr359Asn)
c.948-583T>A (n.948-583T>A)
c.3441+17042A>T (n.3441+17042A>T)
c.948-139T>A (n.948-139T>A)
c.994T>A (p.Tyr332Asn)
c.276+17042A>T (n.276+17042A>T)
c.*220+5502T>A (n.*220+5502T>A)
c.118T>A (p.Tyr40Asn)
c.145T>A (p.Tyr49Asn)
c.1000T>A (p.Tyr334Asn)
c.814T>A (p.Tyr272Asn)
c.733T>A (p.Tyr245Asn)
c.439T>A (p.Tyr147Asn)
c.820T>A (p.Tyr274Asn)
2g.48688723G>ACA426124759GTF2A1L,LHCGR,STON1-GTF2A1Lc.1074C>T (p.Gly358=)
c.948-584C>T (n.948-584C>T)
c.3441+17043G>A (n.3441+17043G>A)
c.948-140C>T (n.948-140C>T)
c.993C>T (p.Gly331=)
c.276+17043G>A (n.276+17043G>A)
c.*220+5501C>T (n.*220+5501C>T)
c.117C>T (p.Gly39=)
c.144C>T (p.Gly48=)
c.999C>T (p.Gly333=)
c.813C>T (p.Gly271=)
c.732C>T (p.Gly244=)
c.438C>T (p.Gly146=)
c.819C>T (p.Gly273=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688723G>CCA426124760GTF2A1L,LHCGR,STON1-GTF2A1Lc.1074C>G (p.Gly358=)
c.948-584C>G (n.948-584C>G)
c.3441+17043G>C (n.3441+17043G>C)
c.948-140C>G (n.948-140C>G)
c.993C>G (p.Gly331=)
c.276+17043G>C (n.276+17043G>C)
c.*220+5501C>G (n.*220+5501C>G)
c.117C>G (p.Gly39=)
c.144C>G (p.Gly48=)
c.999C>G (p.Gly333=)
c.813C>G (p.Gly271=)
c.732C>G (p.Gly244=)
c.438C>G (p.Gly146=)
c.819C>G (p.Gly273=)
2g.48688723G=CA1248601245GTF2A1L,LHCGR,STON1-GTF2A1Lc.1074C= (p.Gly358=)
c.948-584C= (n.948-584C=)
c.3441+17043G= (n.3441+17043G=)
c.948-140C= (n.948-140C=)
c.993C= (p.Gly331=)
c.276+17043G= (n.276+17043G=)
c.*220+5501C= (n.*220+5501C=)
c.117C= (p.Gly39=)
c.144C= (p.Gly48=)
c.999C= (p.Gly333=)
c.813C= (p.Gly271=)
c.732C= (p.Gly244=)
c.438C= (p.Gly146=)
c.819C= (p.Gly273=)
2g.48688723G>TCA426124761GTF2A1L,LHCGR,STON1-GTF2A1Lc.1074C>A (p.Gly358=)
c.948-584C>A (n.948-584C>A)
c.3441+17043G>T (n.3441+17043G>T)
c.948-140C>A (n.948-140C>A)
c.993C>A (p.Gly331=)
c.276+17043G>T (n.276+17043G>T)
c.*220+5501C>A (n.*220+5501C>A)
c.117C>A (p.Gly39=)
c.144C>A (p.Gly48=)
c.999C>A (p.Gly333=)
c.813C>A (p.Gly271=)
c.732C>A (p.Gly244=)
c.438C>A (p.Gly146=)
c.819C>A (p.Gly273=)
2g.48688724C>ACA346749838GTF2A1L,LHCGR,STON1-GTF2A1Lc.1073G>T (p.Gly358Val)
c.948-585G>T (n.948-585G>T)
c.3441+17044C>A (n.3441+17044C>A)
c.948-141G>T (n.948-141G>T)
c.992G>T (p.Gly331Val)
c.276+17044C>A (n.276+17044C>A)
c.*220+5500G>T (n.*220+5500G>T)
c.116G>T (p.Gly39Val)
c.143G>T (p.Gly48Val)
c.998G>T (p.Gly333Val)
c.812G>T (p.Gly271Val)
c.731G>T (p.Gly244Val)
c.437G>T (p.Gly146Val)
c.818G>T (p.Gly273Val)
2g.48688724C=CA1248601246GTF2A1L,LHCGR,STON1-GTF2A1Lc.1073G= (p.Gly358=)
c.948-585G= (n.948-585G=)
c.3441+17044C= (n.3441+17044C=)
c.948-141G= (n.948-141G=)
c.992G= (p.Gly331=)
c.276+17044C= (n.276+17044C=)
c.*220+5500G= (n.*220+5500G=)
c.116G= (p.Gly39=)
c.143G= (p.Gly48=)
c.998G= (p.Gly333=)
c.812G= (p.Gly271=)
c.731G= (p.Gly244=)
c.437G= (p.Gly146=)
c.818G= (p.Gly273=)
2g.48688724C>GCA346749841GTF2A1L,LHCGR,STON1-GTF2A1Lc.1073G>C (p.Gly358Ala)
c.948-585G>C (n.948-585G>C)
c.3441+17044C>G (n.3441+17044C>G)
c.948-141G>C (n.948-141G>C)
c.992G>C (p.Gly331Ala)
c.276+17044C>G (n.276+17044C>G)
c.*220+5500G>C (n.*220+5500G>C)
c.116G>C (p.Gly39Ala)
c.143G>C (p.Gly48Ala)
c.998G>C (p.Gly333Ala)
c.812G>C (p.Gly271Ala)
c.731G>C (p.Gly244Ala)
c.437G>C (p.Gly146Ala)
c.818G>C (p.Gly273Ala)
2g.48688724C>TCA346749843GTF2A1L,LHCGR,STON1-GTF2A1Lc.1073G>A (p.Gly358Asp)
c.948-585G>A (n.948-585G>A)
c.3441+17044C>T (n.3441+17044C>T)
c.948-141G>A (n.948-141G>A)
c.992G>A (p.Gly331Asp)
c.276+17044C>T (n.276+17044C>T)
c.*220+5500G>A (n.*220+5500G>A)
c.116G>A (p.Gly39Asp)
c.143G>A (p.Gly48Asp)
c.998G>A (p.Gly333Asp)
c.812G>A (p.Gly271Asp)
c.731G>A (p.Gly244Asp)
c.437G>A (p.Gly146Asp)
c.818G>A (p.Gly273Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.48688725C>ACA346749845GTF2A1L,LHCGR,STON1-GTF2A1Lc.1072G>T (p.Gly358Cys)
c.948-586G>T (n.948-586G>T)
c.3441+17045C>A (n.3441+17045C>A)
c.948-142G>T (n.948-142G>T)
c.991G>T (p.Gly331Cys)
c.276+17045C>A (n.276+17045C>A)
c.*220+5499G>T (n.*220+5499G>T)
c.115G>T (p.Gly39Cys)
c.142G>T (p.Gly48Cys)
c.997G>T (p.Gly333Cys)
c.811G>T (p.Gly271Cys)
c.730G>T (p.Gly244Cys)
c.436G>T (p.Gly146Cys)
c.817G>T (p.Gly273Cys)
2g.48688725C>GCA346749847GTF2A1L,LHCGR,STON1-GTF2A1Lc.1072G>C (p.Gly358Arg)
c.948-586G>C (n.948-586G>C)
c.3441+17045C>G (n.3441+17045C>G)
c.948-142G>C (n.948-142G>C)
c.991G>C (p.Gly331Arg)
c.276+17045C>G (n.276+17045C>G)
c.*220+5499G>C (n.*220+5499G>C)
c.115G>C (p.Gly39Arg)
c.142G>C (p.Gly48Arg)
c.997G>C (p.Gly333Arg)
c.811G>C (p.Gly271Arg)
c.730G>C (p.Gly244Arg)
c.436G>C (p.Gly146Arg)
c.817G>C (p.Gly273Arg)
2g.48688725C>TCA346749848GTF2A1L,LHCGR,STON1-GTF2A1Lc.1072G>A (p.Gly358Ser)
c.948-586G>A (n.948-586G>A)
c.3441+17045C>T (n.3441+17045C>T)
c.948-142G>A (n.948-142G>A)
c.991G>A (p.Gly331Ser)
c.276+17045C>T (n.276+17045C>T)
c.*220+5499G>A (n.*220+5499G>A)
c.115G>A (p.Gly39Ser)
c.142G>A (p.Gly48Ser)
c.997G>A (p.Gly333Ser)
c.811G>A (p.Gly271Ser)
c.730G>A (p.Gly244Ser)
c.436G>A (p.Gly146Ser)
c.817G>A (p.Gly273Ser)
2g.48688726C>ACA346749850GTF2A1L,LHCGR,STON1-GTF2A1Lc.1071G>T (p.Met357Ile)
c.948-587G>T (n.948-587G>T)
c.3441+17046C>A (n.3441+17046C>A)
c.948-143G>T (n.948-143G>T)
c.990G>T (p.Met330Ile)
c.276+17046C>A (n.276+17046C>A)
c.*220+5498G>T (n.*220+5498G>T)
c.114G>T (p.Met38Ile)
c.141G>T (p.Met47Ile)
c.996G>T (p.Met332Ile)
c.810G>T (p.Met270Ile)
c.729G>T (p.Met243Ile)
c.435G>T (p.Met145Ile)
c.816G>T (p.Met272Ile)
2g.48688726C=CA1248601247GTF2A1L,LHCGR,STON1-GTF2A1Lc.1071G= (p.Met357=)
c.948-587G= (n.948-587G=)
c.3441+17046C= (n.3441+17046C=)
c.948-143G= (n.948-143G=)
c.990G= (p.Met330=)
c.276+17046C= (n.276+17046C=)
c.*220+5498G= (n.*220+5498G=)
c.114G= (p.Met38=)
c.141G= (p.Met47=)
c.996G= (p.Met332=)
c.810G= (p.Met270=)
c.729G= (p.Met243=)
c.435G= (p.Met145=)
c.816G= (p.Met272=)
2g.48688726C>GCA346749853GTF2A1L,LHCGR,STON1-GTF2A1Lc.1071G>C (p.Met357Ile)
c.948-587G>C (n.948-587G>C)
c.3441+17046C>G (n.3441+17046C>G)
c.948-143G>C (n.948-143G>C)
c.990G>C (p.Met330Ile)
c.276+17046C>G (n.276+17046C>G)
c.*220+5498G>C (n.*220+5498G>C)
c.114G>C (p.Met38Ile)
c.141G>C (p.Met47Ile)
c.996G>C (p.Met332Ile)
c.810G>C (p.Met270Ile)
c.729G>C (p.Met243Ile)
c.435G>C (p.Met145Ile)
c.816G>C (p.Met272Ile)
2g.48688726C>TCA1653085GTF2A1L,LHCGR,STON1-GTF2A1Lc.1071G>A (p.Met357Ile)
c.948-587G>A (n.948-587G>A)
c.3441+17046C>T (n.3441+17046C>T)
c.948-143G>A (n.948-143G>A)
c.990G>A (p.Met330Ile)
c.276+17046C>T (n.276+17046C>T)
c.*220+5498G>A (n.*220+5498G>A)
c.114G>A (p.Met38Ile)
c.141G>A (p.Met47Ile)
c.996G>A (p.Met332Ile)
c.810G>A (p.Met270Ile)
c.729G>A (p.Met243Ile)
c.435G>A (p.Met145Ile)
c.816G>A (p.Met272Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688727A>CCA346749855GTF2A1L,LHCGR,STON1-GTF2A1Lc.1070T>G (p.Met357Arg)
c.948-588T>G (n.948-588T>G)
c.3441+17047A>C (n.3441+17047A>C)
c.948-144T>G (n.948-144T>G)
c.989T>G (p.Met330Arg)
c.276+17047A>C (n.276+17047A>C)
c.*220+5497T>G (n.*220+5497T>G)
c.113T>G (p.Met38Arg)
c.140T>G (p.Met47Arg)
c.995T>G (p.Met332Arg)
c.809T>G (p.Met270Arg)
c.728T>G (p.Met243Arg)
c.434T>G (p.Met145Arg)
c.815T>G (p.Met272Arg)
2g.48688727A>GCA346749856GTF2A1L,LHCGR,STON1-GTF2A1Lc.1070T>C (p.Met357Thr)
c.948-588T>C (n.948-588T>C)
c.3441+17047A>G (n.3441+17047A>G)
c.948-144T>C (n.948-144T>C)
c.989T>C (p.Met330Thr)
c.276+17047A>G (n.276+17047A>G)
c.*220+5497T>C (n.*220+5497T>C)
c.113T>C (p.Met38Thr)
c.140T>C (p.Met47Thr)
c.995T>C (p.Met332Thr)
c.809T>C (p.Met270Thr)
c.728T>C (p.Met243Thr)
c.434T>C (p.Met145Thr)
c.815T>C (p.Met272Thr)
2g.48688727A>TCA346749859GTF2A1L,LHCGR,STON1-GTF2A1Lc.1070T>A (p.Met357Lys)
c.948-588T>A (n.948-588T>A)
c.3441+17047A>T (n.3441+17047A>T)
c.948-144T>A (n.948-144T>A)
c.989T>A (p.Met330Lys)
c.276+17047A>T (n.276+17047A>T)
c.*220+5497T>A (n.*220+5497T>A)
c.113T>A (p.Met38Lys)
c.140T>A (p.Met47Lys)
c.995T>A (p.Met332Lys)
c.809T>A (p.Met270Lys)
c.728T>A (p.Met243Lys)
c.434T>A (p.Met145Lys)
c.815T>A (p.Met272Lys)
2g.48688728T>ACA346749861GTF2A1L,LHCGR,STON1-GTF2A1Lc.1069A>T (p.Met357Leu)
c.948-589A>T (n.948-589A>T)
c.3441+17048T>A (n.3441+17048T>A)
c.948-145A>T (n.948-145A>T)
c.988A>T (p.Met330Leu)
c.276+17048T>A (n.276+17048T>A)
c.*220+5496A>T (n.*220+5496A>T)
c.112A>T (p.Met38Leu)
c.139A>T (p.Met47Leu)
c.994A>T (p.Met332Leu)
c.808A>T (p.Met270Leu)
c.727A>T (p.Met243Leu)
c.433A>T (p.Met145Leu)
c.814A>T (p.Met272Leu)
2g.48688728T>CCA346749862GTF2A1L,LHCGR,STON1-GTF2A1Lc.1069A>G (p.Met357Val)
c.948-589A>G (n.948-589A>G)
c.3441+17048T>C (n.3441+17048T>C)
c.948-145A>G (n.948-145A>G)
c.988A>G (p.Met330Val)
c.276+17048T>C (n.276+17048T>C)
c.*220+5496A>G (n.*220+5496A>G)
c.112A>G (p.Met38Val)
c.139A>G (p.Met47Val)
c.994A>G (p.Met332Val)
c.808A>G (p.Met270Val)
c.727A>G (p.Met243Val)
c.433A>G (p.Met145Val)
c.814A>G (p.Met272Val)
2g.48688728T>GCA346749860GTF2A1L,LHCGR,STON1-GTF2A1Lc.1069A>C (p.Met357Leu)
c.948-589A>C (n.948-589A>C)
c.3441+17048T>G (n.3441+17048T>G)
c.948-145A>C (n.948-145A>C)
c.988A>C (p.Met330Leu)
c.276+17048T>G (n.276+17048T>G)
c.*220+5496A>C (n.*220+5496A>C)
c.112A>C (p.Met38Leu)
c.139A>C (p.Met47Leu)
c.994A>C (p.Met332Leu)
c.808A>C (p.Met270Leu)
c.727A>C (p.Met243Leu)
c.433A>C (p.Met145Leu)
c.814A>C (p.Met272Leu)
2g.48688729A>CCA346749864GTF2A1L,LHCGR,STON1-GTF2A1Lc.1068T>G (p.Ile356Met)
c.948-590T>G (n.948-590T>G)
c.3441+17049A>C (n.3441+17049A>C)
c.948-146T>G (n.948-146T>G)
c.987T>G (p.Ile329Met)
c.276+17049A>C (n.276+17049A>C)
c.*220+5495T>G (n.*220+5495T>G)
c.111T>G (p.Ile37Met)
c.138T>G (p.Ile46Met)
c.993T>G (p.Ile331Met)
c.807T>G (p.Ile269Met)
c.726T>G (p.Ile242Met)
c.432T>G (p.Ile144Met)
c.813T>G (p.Ile271Met)
2g.48688729A>GCA426124763GTF2A1L,LHCGR,STON1-GTF2A1Lc.1068T>C (p.Ile356=)
c.948-590T>C (n.948-590T>C)
c.3441+17049A>G (n.3441+17049A>G)
c.948-146T>C (n.948-146T>C)
c.987T>C (p.Ile329=)
c.276+17049A>G (n.276+17049A>G)
c.*220+5495T>C (n.*220+5495T>C)
c.111T>C (p.Ile37=)
c.138T>C (p.Ile46=)
c.993T>C (p.Ile331=)
c.807T>C (p.Ile269=)
c.726T>C (p.Ile242=)
c.432T>C (p.Ile144=)
c.813T>C (p.Ile271=)
2g.48688729A>TCA426124764GTF2A1L,LHCGR,STON1-GTF2A1Lc.1068T>A (p.Ile356=)
c.948-590T>A (n.948-590T>A)
c.3441+17049A>T (n.3441+17049A>T)
c.948-146T>A (n.948-146T>A)
c.987T>A (p.Ile329=)
c.276+17049A>T (n.276+17049A>T)
c.*220+5495T>A (n.*220+5495T>A)
c.111T>A (p.Ile37=)
c.138T>A (p.Ile46=)
c.993T>A (p.Ile331=)
c.807T>A (p.Ile269=)
c.726T>A (p.Ile242=)
c.432T>A (p.Ile144=)
c.813T>A (p.Ile271=)
2g.48688730A>CCA346749866GTF2A1L,LHCGR,STON1-GTF2A1Lc.1067T>G (p.Ile356Ser)
c.948-591T>G (n.948-591T>G)
c.3441+17050A>C (n.3441+17050A>C)
c.948-147T>G (n.948-147T>G)
c.986T>G (p.Ile329Ser)
c.276+17050A>C (n.276+17050A>C)
c.*220+5494T>G (n.*220+5494T>G)
c.110T>G (p.Ile37Ser)
c.137T>G (p.Ile46Ser)
c.992T>G (p.Ile331Ser)
c.806T>G (p.Ile269Ser)
c.725T>G (p.Ile242Ser)
c.431T>G (p.Ile144Ser)
c.812T>G (p.Ile271Ser)
2g.48688730A>GCA346749867GTF2A1L,LHCGR,STON1-GTF2A1Lc.1067T>C (p.Ile356Thr)
c.948-591T>C (n.948-591T>C)
c.3441+17050A>G (n.3441+17050A>G)
c.948-147T>C (n.948-147T>C)
c.986T>C (p.Ile329Thr)
c.276+17050A>G (n.276+17050A>G)
c.*220+5494T>C (n.*220+5494T>C)
c.110T>C (p.Ile37Thr)
c.137T>C (p.Ile46Thr)
c.992T>C (p.Ile331Thr)
c.806T>C (p.Ile269Thr)
c.725T>C (p.Ile242Thr)
c.431T>C (p.Ile144Thr)
c.812T>C (p.Ile271Thr)
2g.48688730A>TCA346749868GTF2A1L,LHCGR,STON1-GTF2A1Lc.1067T>A (p.Ile356Asn)
c.948-591T>A (n.948-591T>A)
c.3441+17050A>T (n.3441+17050A>T)
c.948-147T>A (n.948-147T>A)
c.986T>A (p.Ile329Asn)
c.276+17050A>T (n.276+17050A>T)
c.*220+5494T>A (n.*220+5494T>A)
c.110T>A (p.Ile37Asn)
c.137T>A (p.Ile46Asn)
c.992T>A (p.Ile331Asn)
c.806T>A (p.Ile269Asn)
c.725T>A (p.Ile242Asn)
c.431T>A (p.Ile144Asn)
c.812T>A (p.Ile271Asn)
 gnomAD v4
2g.48688731T>ACA346749874GTF2A1L,LHCGR,STON1-GTF2A1Lc.1066A>T (p.Ile356Phe)
c.948-592A>T (n.948-592A>T)
c.3441+17051T>A (n.3441+17051T>A)
c.948-148A>T (n.948-148A>T)
c.985A>T (p.Ile329Phe)
c.276+17051T>A (n.276+17051T>A)
c.*220+5493A>T (n.*220+5493A>T)
c.109A>T (p.Ile37Phe)
c.136A>T (p.Ile46Phe)
c.991A>T (p.Ile331Phe)
c.805A>T (p.Ile269Phe)
c.724A>T (p.Ile242Phe)
c.430A>T (p.Ile144Phe)
c.811A>T (p.Ile271Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688731T>CCA346749871GTF2A1L,LHCGR,STON1-GTF2A1Lc.1066A>G (p.Ile356Val)
c.948-592A>G (n.948-592A>G)
c.3441+17051T>C (n.3441+17051T>C)
c.948-148A>G (n.948-148A>G)
c.985A>G (p.Ile329Val)
c.276+17051T>C (n.276+17051T>C)
c.*220+5493A>G (n.*220+5493A>G)
c.109A>G (p.Ile37Val)
c.136A>G (p.Ile46Val)
c.991A>G (p.Ile331Val)
c.805A>G (p.Ile269Val)
c.724A>G (p.Ile242Val)
c.430A>G (p.Ile144Val)
c.811A>G (p.Ile271Val)
 dbSNP gnomAD v2
2g.48688731T>GCA346749869GTF2A1L,LHCGR,STON1-GTF2A1Lc.1066A>C (p.Ile356Leu)
c.948-592A>C (n.948-592A>C)
c.3441+17051T>G (n.3441+17051T>G)
c.948-148A>C (n.948-148A>C)
c.985A>C (p.Ile329Leu)
c.276+17051T>G (n.276+17051T>G)
c.*220+5493A>C (n.*220+5493A>C)
c.109A>C (p.Ile37Leu)
c.136A>C (p.Ile46Leu)
c.991A>C (p.Ile331Leu)
c.805A>C (p.Ile269Leu)
c.724A>C (p.Ile242Leu)
c.430A>C (p.Ile144Leu)
c.811A>C (p.Ile271Leu)
2g.48688731T=CA1248601248GTF2A1L,LHCGR,STON1-GTF2A1Lc.1066A= (p.Ile356=)
c.948-592A= (n.948-592A=)
c.3441+17051T= (n.3441+17051T=)
c.948-148A= (n.948-148A=)
c.985A= (p.Ile329=)
c.276+17051T= (n.276+17051T=)
c.*220+5493A= (n.*220+5493A=)
c.109A= (p.Ile37=)
c.136A= (p.Ile46=)
c.991A= (p.Ile331=)
c.805A= (p.Ile269=)
c.724A= (p.Ile242=)
c.430A= (p.Ile144=)
c.811A= (p.Ile271=)
2g.48688732A=CA1248601249GTF2A1L,LHCGR,STON1-GTF2A1Lc.1065T= (p.Asp355=)
c.948-593T= (n.948-593T=)
c.3441+17052A= (n.3441+17052A=)
c.948-149T= (n.948-149T=)
c.984T= (p.Asp328=)
c.276+17052A= (n.276+17052A=)
c.*220+5492T= (n.*220+5492T=)
c.108T= (p.Asp36=)
c.135T= (p.Asp45=)
c.990T= (p.Asp330=)
c.804T= (p.Asp268=)
c.723T= (p.Asp241=)
c.429T= (p.Asp143=)
c.810T= (p.Asp270=)
2g.48688732A>CCA346749875GTF2A1L,LHCGR,STON1-GTF2A1Lc.1065T>G (p.Asp355Glu)
c.948-593T>G (n.948-593T>G)
c.3441+17052A>C (n.3441+17052A>C)
c.948-149T>G (n.948-149T>G)
c.984T>G (p.Asp328Glu)
c.276+17052A>C (n.276+17052A>C)
c.*220+5492T>G (n.*220+5492T>G)
c.108T>G (p.Asp36Glu)
c.135T>G (p.Asp45Glu)
c.990T>G (p.Asp330Glu)
c.804T>G (p.Asp268Glu)
c.723T>G (p.Asp241Glu)
c.429T>G (p.Asp143Glu)
c.810T>G (p.Asp270Glu)
 dbSNP
2g.48688732A>GCA1653086GTF2A1L,LHCGR,STON1-GTF2A1Lc.1065T>C (p.Asp355=)
c.948-593T>C (n.948-593T>C)
c.3441+17052A>G (n.3441+17052A>G)
c.948-149T>C (n.948-149T>C)
c.984T>C (p.Asp328=)
c.276+17052A>G (n.276+17052A>G)
c.*220+5492T>C (n.*220+5492T>C)
c.108T>C (p.Asp36=)
c.135T>C (p.Asp45=)
c.990T>C (p.Asp330=)
c.804T>C (p.Asp268=)
c.723T>C (p.Asp241=)
c.429T>C (p.Asp143=)
c.810T>C (p.Asp270=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688732A>TCA346749877GTF2A1L,LHCGR,STON1-GTF2A1Lc.1065T>A (p.Asp355Glu)
c.948-593T>A (n.948-593T>A)
c.3441+17052A>T (n.3441+17052A>T)
c.948-149T>A (n.948-149T>A)
c.984T>A (p.Asp328Glu)
c.276+17052A>T (n.276+17052A>T)
c.*220+5492T>A (n.*220+5492T>A)
c.108T>A (p.Asp36Glu)
c.135T>A (p.Asp45Glu)
c.990T>A (p.Asp330Glu)
c.804T>A (p.Asp268Glu)
c.723T>A (p.Asp241Glu)
c.429T>A (p.Asp143Glu)
c.810T>A (p.Asp270Glu)
2g.48688733T>ACA346749879GTF2A1L,LHCGR,STON1-GTF2A1Lc.1064A>T (p.Asp355Val)
c.948-594A>T (n.948-594A>T)
c.3441+17053T>A (n.3441+17053T>A)
c.948-150A>T (n.948-150A>T)
c.983A>T (p.Asp328Val)
c.276+17053T>A (n.276+17053T>A)
c.*220+5491A>T (n.*220+5491A>T)
c.107A>T (p.Asp36Val)
c.134A>T (p.Asp45Val)
c.989A>T (p.Asp330Val)
c.803A>T (p.Asp268Val)
c.722A>T (p.Asp241Val)
c.428A>T (p.Asp143Val)
c.809A>T (p.Asp270Val)
2g.48688733T>CCA346749880GTF2A1L,LHCGR,STON1-GTF2A1Lc.1064A>G (p.Asp355Gly)
c.948-594A>G (n.948-594A>G)
c.3441+17053T>C (n.3441+17053T>C)
c.948-150A>G (n.948-150A>G)
c.983A>G (p.Asp328Gly)
c.276+17053T>C (n.276+17053T>C)
c.*220+5491A>G (n.*220+5491A>G)
c.107A>G (p.Asp36Gly)
c.134A>G (p.Asp45Gly)
c.989A>G (p.Asp330Gly)
c.803A>G (p.Asp268Gly)
c.722A>G (p.Asp241Gly)
c.428A>G (p.Asp143Gly)
c.809A>G (p.Asp270Gly)
2g.48688733T>GCA346749883GTF2A1L,LHCGR,STON1-GTF2A1Lc.1064A>C (p.Asp355Ala)
c.948-594A>C (n.948-594A>C)
c.3441+17053T>G (n.3441+17053T>G)
c.948-150A>C (n.948-150A>C)
c.983A>C (p.Asp328Ala)
c.276+17053T>G (n.276+17053T>G)
c.*220+5491A>C (n.*220+5491A>C)
c.107A>C (p.Asp36Ala)
c.134A>C (p.Asp45Ala)
c.989A>C (p.Asp330Ala)
c.803A>C (p.Asp268Ala)
c.722A>C (p.Asp241Ala)
c.428A>C (p.Asp143Ala)
c.809A>C (p.Asp270Ala)
2g.48688734C>ACA346749886GTF2A1L,LHCGR,STON1-GTF2A1Lc.1063G>T (p.Asp355Tyr)
c.948-595G>T (n.948-595G>T)
c.3441+17054C>A (n.3441+17054C>A)
c.948-151G>T (n.948-151G>T)
c.982G>T (p.Asp328Tyr)
c.276+17054C>A (n.276+17054C>A)
c.*220+5490G>T (n.*220+5490G>T)
c.106G>T (p.Asp36Tyr)
c.133G>T (p.Asp45Tyr)
c.988G>T (p.Asp330Tyr)
c.802G>T (p.Asp268Tyr)
c.721G>T (p.Asp241Tyr)
c.427G>T (p.Asp143Tyr)
c.808G>T (p.Asp270Tyr)
2g.48688734C>GCA346749884GTF2A1L,LHCGR,STON1-GTF2A1Lc.1063G>C (p.Asp355His)
c.948-595G>C (n.948-595G>C)
c.3441+17054C>G (n.3441+17054C>G)
c.948-151G>C (n.948-151G>C)
c.982G>C (p.Asp328His)
c.276+17054C>G (n.276+17054C>G)
c.*220+5490G>C (n.*220+5490G>C)
c.106G>C (p.Asp36His)
c.133G>C (p.Asp45His)
c.988G>C (p.Asp330His)
c.802G>C (p.Asp268His)
c.721G>C (p.Asp241His)
c.427G>C (p.Asp143His)
c.808G>C (p.Asp270His)
2g.48688734C>TCA346749885GTF2A1L,LHCGR,STON1-GTF2A1Lc.1063G>A (p.Asp355Asn)
c.948-595G>A (n.948-595G>A)
c.3441+17054C>T (n.3441+17054C>T)
c.948-151G>A (n.948-151G>A)
c.982G>A (p.Asp328Asn)
c.276+17054C>T (n.276+17054C>T)
c.*220+5490G>A (n.*220+5490G>A)
c.106G>A (p.Asp36Asn)
c.133G>A (p.Asp45Asn)
c.988G>A (p.Asp330Asn)
c.802G>A (p.Asp268Asn)
c.721G>A (p.Asp241Asn)
c.427G>A (p.Asp143Asn)
c.808G>A (p.Asp270Asn)
 gnomAD v4 COSMIC
2g.48688735T>ACA346749887GTF2A1L,LHCGR,STON1-GTF2A1Lc.1062A>T (p.Glu354Asp)
c.948-596A>T (n.948-596A>T)
c.3441+17055T>A (n.3441+17055T>A)
c.948-152A>T (n.948-152A>T)
c.981A>T (p.Glu327Asp)
c.276+17055T>A (n.276+17055T>A)
c.*220+5489A>T (n.*220+5489A>T)
c.105A>T (p.Glu35Asp)
c.132A>T (p.Glu44Asp)
c.987A>T (p.Glu329Asp)
c.801A>T (p.Glu267Asp)
c.720A>T (p.Glu240Asp)
c.426A>T (p.Glu142Asp)
c.807A>T (p.Glu269Asp)
2g.48688735T>CCA426124770GTF2A1L,LHCGR,STON1-GTF2A1Lc.1062A>G (p.Glu354=)
c.948-596A>G (n.948-596A>G)
c.3441+17055T>C (n.3441+17055T>C)
c.948-152A>G (n.948-152A>G)
c.981A>G (p.Glu327=)
c.276+17055T>C (n.276+17055T>C)
c.*220+5489A>G (n.*220+5489A>G)
c.105A>G (p.Glu35=)
c.132A>G (p.Glu44=)
c.987A>G (p.Glu329=)
c.801A>G (p.Glu267=)
c.720A>G (p.Glu240=)
c.426A>G (p.Glu142=)
c.807A>G (p.Glu269=)
2g.48688735T>GCA346749888GTF2A1L,LHCGR,STON1-GTF2A1Lc.1062A>C (p.Glu354Asp)
c.948-596A>C (n.948-596A>C)
c.3441+17055T>G (n.3441+17055T>G)
c.948-152A>C (n.948-152A>C)
c.981A>C (p.Glu327Asp)
c.276+17055T>G (n.276+17055T>G)
c.*220+5489A>C (n.*220+5489A>C)
c.105A>C (p.Glu35Asp)
c.132A>C (p.Glu44Asp)
c.987A>C (p.Glu329Asp)
c.801A>C (p.Glu267Asp)
c.720A>C (p.Glu240Asp)
c.426A>C (p.Glu142Asp)
c.807A>C (p.Glu269Asp)
 gnomAD v4
2g.48688736T>ACA346749890GTF2A1L,LHCGR,STON1-GTF2A1Lc.1061A>T (p.Glu354Val)
c.948-597A>T (n.948-597A>T)
c.3441+17056T>A (n.3441+17056T>A)
c.948-153A>T (n.948-153A>T)
c.980A>T (p.Glu327Val)
c.276+17056T>A (n.276+17056T>A)
c.*220+5488A>T (n.*220+5488A>T)
c.104A>T (p.Glu35Val)
c.131A>T (p.Glu44Val)
c.986A>T (p.Glu329Val)
c.800A>T (p.Glu267Val)
c.719A>T (p.Glu240Val)
c.425A>T (p.Glu142Val)
c.806A>T (p.Glu269Val)
2g.48688736T>CCA346749892GTF2A1L,LHCGR,STON1-GTF2A1Lc.1061A>G (p.Glu354Gly)
c.948-597A>G (n.948-597A>G)
c.3441+17056T>C (n.3441+17056T>C)
c.948-153A>G (n.948-153A>G)
c.980A>G (p.Glu327Gly)
c.276+17056T>C (n.276+17056T>C)
c.*220+5488A>G (n.*220+5488A>G)
c.104A>G (p.Glu35Gly)
c.131A>G (p.Glu44Gly)
c.986A>G (p.Glu329Gly)
c.800A>G (p.Glu267Gly)
c.719A>G (p.Glu240Gly)
c.425A>G (p.Glu142Gly)
c.806A>G (p.Glu269Gly)
2g.48688736T>GCA346749893GTF2A1L,LHCGR,STON1-GTF2A1Lc.1061A>C (p.Glu354Ala)
c.948-597A>C (n.948-597A>C)
c.3441+17056T>G (n.3441+17056T>G)
c.948-153A>C (n.948-153A>C)
c.980A>C (p.Glu327Ala)
c.276+17056T>G (n.276+17056T>G)
c.*220+5488A>C (n.*220+5488A>C)
c.104A>C (p.Glu35Ala)
c.131A>C (p.Glu44Ala)
c.986A>C (p.Glu329Ala)
c.800A>C (p.Glu267Ala)
c.719A>C (p.Glu240Ala)
c.425A>C (p.Glu142Ala)
c.806A>C (p.Glu269Ala)
2g.48688737C>ACA346749898GTF2A1L,LHCGR,STON1-GTF2A1Lc.1060G>T (p.Glu354Ter)
c.948-598G>T (n.948-598G>T)
c.3441+17057C>A (n.3441+17057C>A)
c.948-154G>T (n.948-154G>T)
c.979G>T (p.Glu327Ter)
c.276+17057C>A (n.276+17057C>A)
c.*220+5487G>T (n.*220+5487G>T)
c.103G>T (p.Glu35Ter)
c.130G>T (p.Glu44Ter)
c.985G>T (p.Glu329Ter)
c.799G>T (p.Glu267Ter)
c.718G>T (p.Glu240Ter)
c.424G>T (p.Glu142Ter)
c.805G>T (p.Glu269Ter)
2g.48688737C=CA1248601250GTF2A1L,LHCGR,STON1-GTF2A1Lc.1060G= (p.Glu354=)
c.948-598G= (n.948-598G=)
c.3441+17057C= (n.3441+17057C=)
c.948-154G= (n.948-154G=)
c.979G= (p.Glu327=)
c.276+17057C= (n.276+17057C=)
c.*220+5487G= (n.*220+5487G=)
c.103G= (p.Glu35=)
c.130G= (p.Glu44=)
c.985G= (p.Glu329=)
c.799G= (p.Glu267=)
c.718G= (p.Glu240=)
c.424G= (p.Glu142=)
c.805G= (p.Glu269=)
2g.48688737C>GCA346749899GTF2A1L,LHCGR,STON1-GTF2A1Lc.1060G>C (p.Glu354Gln)
c.948-598G>C (n.948-598G>C)
c.3441+17057C>G (n.3441+17057C>G)
c.948-154G>C (n.948-154G>C)
c.979G>C (p.Glu327Gln)
c.276+17057C>G (n.276+17057C>G)
c.*220+5487G>C (n.*220+5487G>C)
c.103G>C (p.Glu35Gln)
c.130G>C (p.Glu44Gln)
c.985G>C (p.Glu329Gln)
c.799G>C (p.Glu267Gln)
c.718G>C (p.Glu240Gln)
c.424G>C (p.Glu142Gln)
c.805G>C (p.Glu269Gln)
2g.48688737C>TCA123927GTF2A1L,LHCGR,STON1-GTF2A1Lc.1060G>A (p.Glu354Lys)
c.948-598G>A (n.948-598G>A)
c.3441+17057C>T (n.3441+17057C>T)
c.948-154G>A (n.948-154G>A)
c.979G>A (p.Glu327Lys)
c.276+17057C>T (n.276+17057C>T)
c.*220+5487G>A (n.*220+5487G>A)
c.103G>A (p.Glu35Lys)
c.130G>A (p.Glu44Lys)
c.985G>A (p.Glu329Lys)
c.799G>A (p.Glu267Lys)
c.718G>A (p.Glu240Lys)
c.424G>A (p.Glu142Lys)
c.805G>A (p.Glu269Lys)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.48688738A>CCA346749902GTF2A1L,LHCGR,STON1-GTF2A1Lc.1059T>G (p.Cys353Trp)
c.948-599T>G (n.948-599T>G)
c.3441+17058A>C (n.3441+17058A>C)
c.948-155T>G (n.948-155T>G)
c.978T>G (p.Cys326Trp)
c.276+17058A>C (n.276+17058A>C)
c.*220+5486T>G (n.*220+5486T>G)
c.102T>G (p.Cys34Trp)
c.129T>G (p.Cys43Trp)
c.984T>G (p.Cys328Trp)
c.798T>G (p.Cys266Trp)
c.717T>G (p.Cys239Trp)
c.423T>G (p.Cys141Trp)
c.804T>G (p.Cys268Trp)
2g.48688738A>GCA426124774GTF2A1L,LHCGR,STON1-GTF2A1Lc.1059T>C (p.Cys353=)
c.948-599T>C (n.948-599T>C)
c.3441+17058A>G (n.3441+17058A>G)
c.948-155T>C (n.948-155T>C)
c.978T>C (p.Cys326=)
c.276+17058A>G (n.276+17058A>G)
c.*220+5486T>C (n.*220+5486T>C)
c.102T>C (p.Cys34=)
c.129T>C (p.Cys43=)
c.984T>C (p.Cys328=)
c.798T>C (p.Cys266=)
c.717T>C (p.Cys239=)
c.423T>C (p.Cys141=)
c.804T>C (p.Cys268=)
 gnomAD v4
2g.48688738A>TCA346749900GTF2A1L,LHCGR,STON1-GTF2A1Lc.1059T>A (p.Cys353Ter)
c.948-599T>A (n.948-599T>A)
c.3441+17058A>T (n.3441+17058A>T)
c.948-155T>A (n.948-155T>A)
c.978T>A (p.Cys326Ter)
c.276+17058A>T (n.276+17058A>T)
c.*220+5486T>A (n.*220+5486T>A)
c.102T>A (p.Cys34Ter)
c.129T>A (p.Cys43Ter)
c.984T>A (p.Cys328Ter)
c.798T>A (p.Cys266Ter)
c.717T>A (p.Cys239Ter)
c.423T>A (p.Cys141Ter)
c.804T>A (p.Cys268Ter)
2g.48688739C>ACA346749904GTF2A1L,LHCGR,STON1-GTF2A1Lc.1058G>T (p.Cys353Phe)
c.948-600G>T (n.948-600G>T)
c.3441+17059C>A (n.3441+17059C>A)
c.948-156G>T (n.948-156G>T)
c.977G>T (p.Cys326Phe)
c.276+17059C>A (n.276+17059C>A)
c.*220+5485G>T (n.*220+5485G>T)
c.101G>T (p.Cys34Phe)
c.128G>T (p.Cys43Phe)
c.983G>T (p.Cys328Phe)
c.797G>T (p.Cys266Phe)
c.716G>T (p.Cys239Phe)
c.422G>T (p.Cys141Phe)
c.803G>T (p.Cys268Phe)
2g.48688739C>GCA346749906GTF2A1L,LHCGR,STON1-GTF2A1Lc.1058G>C (p.Cys353Ser)
c.948-600G>C (n.948-600G>C)
c.3441+17059C>G (n.3441+17059C>G)
c.948-156G>C (n.948-156G>C)
c.977G>C (p.Cys326Ser)
c.276+17059C>G (n.276+17059C>G)
c.*220+5485G>C (n.*220+5485G>C)
c.101G>C (p.Cys34Ser)
c.128G>C (p.Cys43Ser)
c.983G>C (p.Cys328Ser)
c.797G>C (p.Cys266Ser)
c.716G>C (p.Cys239Ser)
c.422G>C (p.Cys141Ser)
c.803G>C (p.Cys268Ser)
 gnomAD v4
2g.48688739C>TCA346749909GTF2A1L,LHCGR,STON1-GTF2A1Lc.1058G>A (p.Cys353Tyr)
c.948-600G>A (n.948-600G>A)
c.3441+17059C>T (n.3441+17059C>T)
c.948-156G>A (n.948-156G>A)
c.977G>A (p.Cys326Tyr)
c.276+17059C>T (n.276+17059C>T)
c.*220+5485G>A (n.*220+5485G>A)
c.101G>A (p.Cys34Tyr)
c.128G>A (p.Cys43Tyr)
c.983G>A (p.Cys328Tyr)
c.797G>A (p.Cys266Tyr)
c.716G>A (p.Cys239Tyr)
c.422G>A (p.Cys141Tyr)
c.803G>A (p.Cys268Tyr)
2g.48688740A=CA1248601251GTF2A1L,LHCGR,STON1-GTF2A1Lc.1057T= (p.Cys353=)
c.948-601T= (n.948-601T=)
c.3441+17060A= (n.3441+17060A=)
c.948-157T= (n.948-157T=)
c.976T= (p.Cys326=)
c.276+17060A= (n.276+17060A=)
c.*220+5484T= (n.*220+5484T=)
c.100T= (p.Cys34=)
c.127T= (p.Cys43=)
c.982T= (p.Cys328=)
c.796T= (p.Cys266=)
c.715T= (p.Cys239=)
c.421T= (p.Cys141=)
c.802T= (p.Cys268=)
2g.48688740A>CCA346749910GTF2A1L,LHCGR,STON1-GTF2A1Lc.1057T>G (p.Cys353Gly)
c.948-601T>G (n.948-601T>G)
c.3441+17060A>C (n.3441+17060A>C)
c.948-157T>G (n.948-157T>G)
c.976T>G (p.Cys326Gly)
c.276+17060A>C (n.276+17060A>C)
c.*220+5484T>G (n.*220+5484T>G)
c.100T>G (p.Cys34Gly)
c.127T>G (p.Cys43Gly)
c.982T>G (p.Cys328Gly)
c.796T>G (p.Cys266Gly)
c.715T>G (p.Cys239Gly)
c.421T>G (p.Cys141Gly)
c.802T>G (p.Cys268Gly)
2g.48688740A>GCA346749914GTF2A1L,LHCGR,STON1-GTF2A1Lc.1057T>C (p.Cys353Arg)
c.948-601T>C (n.948-601T>C)
c.3441+17060A>G (n.3441+17060A>G)
c.948-157T>C (n.948-157T>C)
c.976T>C (p.Cys326Arg)
c.276+17060A>G (n.276+17060A>G)
c.*220+5484T>C (n.*220+5484T>C)
c.100T>C (p.Cys34Arg)
c.127T>C (p.Cys43Arg)
c.982T>C (p.Cys328Arg)
c.796T>C (p.Cys266Arg)
c.715T>C (p.Cys239Arg)
c.421T>C (p.Cys141Arg)
c.802T>C (p.Cys268Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.48688740A>TCA346749917GTF2A1L,LHCGR,STON1-GTF2A1Lc.1057T>A (p.Cys353Ser)
c.948-601T>A (n.948-601T>A)
c.3441+17060A>T (n.3441+17060A>T)
c.948-157T>A (n.948-157T>A)
c.976T>A (p.Cys326Ser)
c.276+17060A>T (n.276+17060A>T)
c.*220+5484T>A (n.*220+5484T>A)
c.100T>A (p.Cys34Ser)
c.127T>A (p.Cys43Ser)
c.982T>A (p.Cys328Ser)
c.796T>A (p.Cys266Ser)
c.715T>A (p.Cys239Ser)
c.421T>A (p.Cys141Ser)
c.802T>A (p.Cys268Ser)
2g.48688741G>ACA426124780GTF2A1L,LHCGR,STON1-GTF2A1Lc.1056C>T (p.Pro352=)
c.948-602C>T (n.948-602C>T)
c.3441+17061G>A (n.3441+17061G>A)
c.948-158C>T (n.948-158C>T)
c.975C>T (p.Pro325=)
c.276+17061G>A (n.276+17061G>A)
c.*220+5483C>T (n.*220+5483C>T)
c.99C>T (p.Pro33=)
c.126C>T (p.Pro42=)
c.981C>T (p.Pro327=)
c.795C>T (p.Pro265=)
c.714C>T (p.Pro238=)
c.420C>T (p.Pro140=)
c.801C>T (p.Pro267=)
2g.48688741G>CCA426124779GTF2A1L,LHCGR,STON1-GTF2A1Lc.1056C>G (p.Pro352=)
c.948-602C>G (n.948-602C>G)
c.3441+17061G>C (n.3441+17061G>C)
c.948-158C>G (n.948-158C>G)
c.975C>G (p.Pro325=)
c.276+17061G>C (n.276+17061G>C)
c.*220+5483C>G (n.*220+5483C>G)
c.99C>G (p.Pro33=)
c.126C>G (p.Pro42=)
c.981C>G (p.Pro327=)
c.795C>G (p.Pro265=)
c.714C>G (p.Pro238=)
c.420C>G (p.Pro140=)
c.801C>G (p.Pro267=)
2g.48688741G>TCA426124778GTF2A1L,LHCGR,STON1-GTF2A1Lc.1056C>A (p.Pro352=)
c.948-602C>A (n.948-602C>A)
c.3441+17061G>T (n.3441+17061G>T)
c.948-158C>A (n.948-158C>A)
c.975C>A (p.Pro325=)
c.276+17061G>T (n.276+17061G>T)
c.*220+5483C>A (n.*220+5483C>A)
c.99C>A (p.Pro33=)
c.126C>A (p.Pro42=)
c.981C>A (p.Pro327=)
c.795C>A (p.Pro265=)
c.714C>A (p.Pro238=)
c.420C>A (p.Pro140=)
c.801C>A (p.Pro267=)
2g.48688742G>ACA346749919GTF2A1L,LHCGR,STON1-GTF2A1Lc.1055C>T (p.Pro352Leu)
c.948-603C>T (n.948-603C>T)
c.3441+17062G>A (n.3441+17062G>A)
c.948-159C>T (n.948-159C>T)
c.974C>T (p.Pro325Leu)
c.276+17062G>A (n.276+17062G>A)
c.*220+5482C>T (n.*220+5482C>T)
c.98C>T (p.Pro33Leu)
c.125C>T (p.Pro42Leu)
c.980C>T (p.Pro327Leu)
c.794C>T (p.Pro265Leu)
c.713C>T (p.Pro238Leu)
c.419C>T (p.Pro140Leu)
c.800C>T (p.Pro267Leu)
2g.48688742G>CCA346749926GTF2A1L,LHCGR,STON1-GTF2A1Lc.1055C>G (p.Pro352Arg)
c.948-603C>G (n.948-603C>G)
c.3441+17062G>C (n.3441+17062G>C)
c.948-159C>G (n.948-159C>G)
c.974C>G (p.Pro325Arg)
c.276+17062G>C (n.276+17062G>C)
c.*220+5482C>G (n.*220+5482C>G)
c.98C>G (p.Pro33Arg)
c.125C>G (p.Pro42Arg)
c.980C>G (p.Pro327Arg)
c.794C>G (p.Pro265Arg)
c.713C>G (p.Pro238Arg)
c.419C>G (p.Pro140Arg)
c.800C>G (p.Pro267Arg)
2g.48688742G>TCA346749923GTF2A1L,LHCGR,STON1-GTF2A1Lc.1055C>A (p.Pro352His)
c.948-603C>A (n.948-603C>A)
c.3441+17062G>T (n.3441+17062G>T)
c.948-159C>A (n.948-159C>A)
c.974C>A (p.Pro325His)
c.276+17062G>T (n.276+17062G>T)
c.*220+5482C>A (n.*220+5482C>A)
c.98C>A (p.Pro33His)
c.125C>A (p.Pro42His)
c.980C>A (p.Pro327His)
c.794C>A (p.Pro265His)
c.713C>A (p.Pro238His)
c.419C>A (p.Pro140His)
c.800C>A (p.Pro267His)
2g.48688743G>ACA46753340GTF2A1L,LHCGR,STON1-GTF2A1Lc.1054C>T (p.Pro352Ser)
c.948-604C>T (n.948-604C>T)
c.3441+17063G>A (n.3441+17063G>A)
c.948-160C>T (n.948-160C>T)
c.973C>T (p.Pro325Ser)
c.276+17063G>A (n.276+17063G>A)
c.*220+5481C>T (n.*220+5481C>T)
c.97C>T (p.Pro33Ser)
c.124C>T (p.Pro42Ser)
c.979C>T (p.Pro327Ser)
c.793C>T (p.Pro265Ser)
c.712C>T (p.Pro238Ser)
c.418C>T (p.Pro140Ser)
c.799C>T (p.Pro267Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688743G>CCA346749927GTF2A1L,LHCGR,STON1-GTF2A1Lc.1054C>G (p.Pro352Ala)
c.948-604C>G (n.948-604C>G)
c.3441+17063G>C (n.3441+17063G>C)
c.948-160C>G (n.948-160C>G)
c.973C>G (p.Pro325Ala)
c.276+17063G>C (n.276+17063G>C)
c.*220+5481C>G (n.*220+5481C>G)
c.97C>G (p.Pro33Ala)
c.124C>G (p.Pro42Ala)
c.979C>G (p.Pro327Ala)
c.793C>G (p.Pro265Ala)
c.712C>G (p.Pro238Ala)
c.418C>G (p.Pro140Ala)
c.799C>G (p.Pro267Ala)
2g.48688743G=CA1248601252GTF2A1L,LHCGR,STON1-GTF2A1Lc.1054C= (p.Pro352=)
c.948-604C= (n.948-604C=)
c.3441+17063G= (n.3441+17063G=)
c.948-160C= (n.948-160C=)
c.973C= (p.Pro325=)
c.276+17063G= (n.276+17063G=)
c.*220+5481C= (n.*220+5481C=)
c.97C= (p.Pro33=)
c.124C= (p.Pro42=)
c.979C= (p.Pro327=)
c.793C= (p.Pro265=)
c.712C= (p.Pro238=)
c.418C= (p.Pro140=)
c.799C= (p.Pro267=)
2g.48688743G>TCA346749931GTF2A1L,LHCGR,STON1-GTF2A1Lc.1054C>A (p.Pro352Thr)
c.948-604C>A (n.948-604C>A)
c.3441+17063G>T (n.3441+17063G>T)
c.948-160C>A (n.948-160C>A)
c.973C>A (p.Pro325Thr)
c.276+17063G>T (n.276+17063G>T)
c.*220+5481C>A (n.*220+5481C>A)
c.97C>A (p.Pro33Thr)
c.124C>A (p.Pro42Thr)
c.979C>A (p.Pro327Thr)
c.793C>A (p.Pro265Thr)
c.712C>A (p.Pro238Thr)
c.418C>A (p.Pro140Thr)
c.799C>A (p.Pro267Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688744A=CA1248601253GTF2A1L,LHCGR,STON1-GTF2A1Lc.1053T= (p.Asn351=)
c.948-605T= (n.948-605T=)
c.3441+17064A= (n.3441+17064A=)
c.948-161T= (n.948-161T=)
c.972T= (p.Asn324=)
c.276+17064A= (n.276+17064A=)
c.*220+5480T= (n.*220+5480T=)
c.96T= (p.Asn32=)
c.123T= (p.Asn41=)
c.978T= (p.Asn326=)
c.792T= (p.Asn264=)
c.711T= (p.Asn237=)
c.417T= (p.Asn139=)
c.798T= (p.Asn266=)
2g.48688744A>CCA346749933GTF2A1L,LHCGR,STON1-GTF2A1Lc.1053T>G (p.Asn351Lys)
c.948-605T>G (n.948-605T>G)
c.3441+17064A>C (n.3441+17064A>C)
c.948-161T>G (n.948-161T>G)
c.972T>G (p.Asn324Lys)
c.276+17064A>C (n.276+17064A>C)
c.*220+5480T>G (n.*220+5480T>G)
c.96T>G (p.Asn32Lys)
c.123T>G (p.Asn41Lys)
c.978T>G (p.Asn326Lys)
c.792T>G (p.Asn264Lys)
c.711T>G (p.Asn237Lys)
c.417T>G (p.Asn139Lys)
c.798T>G (p.Asn266Lys)
2g.48688744A>GCA426124782GTF2A1L,LHCGR,STON1-GTF2A1Lc.1053T>C (p.Asn351=)
c.948-605T>C (n.948-605T>C)
c.3441+17064A>G (n.3441+17064A>G)
c.948-161T>C (n.948-161T>C)
c.972T>C (p.Asn324=)
c.276+17064A>G (n.276+17064A>G)
c.*220+5480T>C (n.*220+5480T>C)
c.96T>C (p.Asn32=)
c.123T>C (p.Asn41=)
c.978T>C (p.Asn326=)
c.792T>C (p.Asn264=)
c.711T>C (p.Asn237=)
c.417T>C (p.Asn139=)
c.798T>C (p.Asn266=)
2g.48688744A>TCA1653087GTF2A1L,LHCGR,STON1-GTF2A1Lc.1053T>A (p.Asn351Lys)
c.948-605T>A (n.948-605T>A)
c.3441+17064A>T (n.3441+17064A>T)
c.948-161T>A (n.948-161T>A)
c.972T>A (p.Asn324Lys)
c.276+17064A>T (n.276+17064A>T)
c.*220+5480T>A (n.*220+5480T>A)
c.96T>A (p.Asn32Lys)
c.123T>A (p.Asn41Lys)
c.978T>A (p.Asn326Lys)
c.792T>A (p.Asn264Lys)
c.711T>A (p.Asn237Lys)
c.417T>A (p.Asn139Lys)
c.798T>A (p.Asn266Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688745T>ACA346749938GTF2A1L,LHCGR,STON1-GTF2A1Lc.1052A>T (p.Asn351Ile)
c.948-606A>T (n.948-606A>T)
c.3441+17065T>A (n.3441+17065T>A)
c.948-162A>T (n.948-162A>T)
c.971A>T (p.Asn324Ile)
c.276+17065T>A (n.276+17065T>A)
c.*220+5479A>T (n.*220+5479A>T)
c.95A>T (p.Asn32Ile)
c.122A>T (p.Asn41Ile)
c.977A>T (p.Asn326Ile)
c.791A>T (p.Asn264Ile)
c.710A>T (p.Asn237Ile)
c.416A>T (p.Asn139Ile)
c.797A>T (p.Asn266Ile)
2g.48688745T>CCA346749939GTF2A1L,LHCGR,STON1-GTF2A1Lc.1052A>G (p.Asn351Ser)
c.948-606A>G (n.948-606A>G)
c.3441+17065T>C (n.3441+17065T>C)
c.948-162A>G (n.948-162A>G)
c.971A>G (p.Asn324Ser)
c.276+17065T>C (n.276+17065T>C)
c.*220+5479A>G (n.*220+5479A>G)
c.95A>G (p.Asn32Ser)
c.122A>G (p.Asn41Ser)
c.977A>G (p.Asn326Ser)
c.791A>G (p.Asn264Ser)
c.710A>G (p.Asn237Ser)
c.416A>G (p.Asn139Ser)
c.797A>G (p.Asn266Ser)
2g.48688745T>GCA1653088GTF2A1L,LHCGR,STON1-GTF2A1Lc.1052A>C (p.Asn351Thr)
c.948-606A>C (n.948-606A>C)
c.3441+17065T>G (n.3441+17065T>G)
c.948-162A>C (n.948-162A>C)
c.971A>C (p.Asn324Thr)
c.276+17065T>G (n.276+17065T>G)
c.*220+5479A>C (n.*220+5479A>C)
c.95A>C (p.Asn32Thr)
c.122A>C (p.Asn41Thr)
c.977A>C (p.Asn326Thr)
c.791A>C (p.Asn264Thr)
c.710A>C (p.Asn237Thr)
c.416A>C (p.Asn139Thr)
c.797A>C (p.Asn266Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688745T=CA1248601254GTF2A1L,LHCGR,STON1-GTF2A1Lc.1052A= (p.Asn351=)
c.948-606A= (n.948-606A=)
c.3441+17065T= (n.3441+17065T=)
c.948-162A= (n.948-162A=)
c.971A= (p.Asn324=)
c.276+17065T= (n.276+17065T=)
c.*220+5479A= (n.*220+5479A=)
c.95A= (p.Asn32=)
c.122A= (p.Asn41=)
c.977A= (p.Asn326=)
c.791A= (p.Asn264=)
c.710A= (p.Asn237=)
c.416A= (p.Asn139=)
c.797A= (p.Asn266=)
2g.48688746T>ACA346749943GTF2A1L,LHCGR,STON1-GTF2A1Lc.1051A>T (p.Asn351Tyr)
c.948-607A>T (n.948-607A>T)
c.3441+17066T>A (n.3441+17066T>A)
c.948-163A>T (n.948-163A>T)
c.970A>T (p.Asn324Tyr)
c.276+17066T>A (n.276+17066T>A)
c.*220+5478A>T (n.*220+5478A>T)
c.94A>T (p.Asn32Tyr)
c.121A>T (p.Asn41Tyr)
c.976A>T (p.Asn326Tyr)
c.790A>T (p.Asn264Tyr)
c.709A>T (p.Asn237Tyr)
c.415A>T (p.Asn139Tyr)
c.796A>T (p.Asn266Tyr)
2g.48688746T>CCA346749944GTF2A1L,LHCGR,STON1-GTF2A1Lc.1051A>G (p.Asn351Asp)
c.948-607A>G (n.948-607A>G)
c.3441+17066T>C (n.3441+17066T>C)
c.948-163A>G (n.948-163A>G)
c.970A>G (p.Asn324Asp)
c.276+17066T>C (n.276+17066T>C)
c.*220+5478A>G (n.*220+5478A>G)
c.94A>G (p.Asn32Asp)
c.121A>G (p.Asn41Asp)
c.976A>G (p.Asn326Asp)
c.790A>G (p.Asn264Asp)
c.709A>G (p.Asn237Asp)
c.415A>G (p.Asn139Asp)
c.796A>G (p.Asn266Asp)
2g.48688746T>GCA346749945GTF2A1L,LHCGR,STON1-GTF2A1Lc.1051A>C (p.Asn351His)
c.948-607A>C (n.948-607A>C)
c.3441+17066T>G (n.3441+17066T>G)
c.948-163A>C (n.948-163A>C)
c.970A>C (p.Asn324His)
c.276+17066T>G (n.276+17066T>G)
c.*220+5478A>C (n.*220+5478A>C)
c.94A>C (p.Asn32His)
c.121A>C (p.Asn41His)
c.976A>C (p.Asn326His)
c.790A>C (p.Asn264His)
c.709A>C (p.Asn237His)
c.415A>C (p.Asn139His)
c.796A>C (p.Asn266His)
2g.48688747A>CCA346749948GTF2A1L,LHCGR,STON1-GTF2A1Lc.1050T>G (p.Phe350Leu)
c.948-608T>G (n.948-608T>G)
c.3441+17067A>C (n.3441+17067A>C)
c.948-164T>G (n.948-164T>G)
c.969T>G (p.Phe323Leu)
c.276+17067A>C (n.276+17067A>C)
c.*220+5477T>G (n.*220+5477T>G)
c.93T>G (p.Phe31Leu)
c.120T>G (p.Phe40Leu)
c.975T>G (p.Phe325Leu)
c.789T>G (p.Phe263Leu)
c.708T>G (p.Phe236Leu)
c.414T>G (p.Phe138Leu)
c.795T>G (p.Phe265Leu)
2g.48688747A>GCA426124783GTF2A1L,LHCGR,STON1-GTF2A1Lc.1050T>C (p.Phe350=)
c.948-608T>C (n.948-608T>C)
c.3441+17067A>G (n.3441+17067A>G)
c.948-164T>C (n.948-164T>C)
c.969T>C (p.Phe323=)
c.276+17067A>G (n.276+17067A>G)
c.*220+5477T>C (n.*220+5477T>C)
c.93T>C (p.Phe31=)
c.120T>C (p.Phe40=)
c.975T>C (p.Phe325=)
c.789T>C (p.Phe263=)
c.708T>C (p.Phe236=)
c.414T>C (p.Phe138=)
c.795T>C (p.Phe265=)
2g.48688747A>TCA346749946GTF2A1L,LHCGR,STON1-GTF2A1Lc.1050T>A (p.Phe350Leu)
c.948-608T>A (n.948-608T>A)
c.3441+17067A>T (n.3441+17067A>T)
c.948-164T>A (n.948-164T>A)
c.969T>A (p.Phe323Leu)
c.276+17067A>T (n.276+17067A>T)
c.*220+5477T>A (n.*220+5477T>A)
c.93T>A (p.Phe31Leu)
c.120T>A (p.Phe40Leu)
c.975T>A (p.Phe325Leu)
c.789T>A (p.Phe263Leu)
c.708T>A (p.Phe236Leu)
c.414T>A (p.Phe138Leu)
c.795T>A (p.Phe265Leu)
2g.48688750delCA2658992089GTF2A1L,LHCGR,STON1-GTF2A1Lc.1050del (p.Phe350LeufsTer16)
c.948-608del (n.948-608del)
c.3441+17070del (n.3441+17070del)
c.948-164del (n.948-164del)
c.969del (p.Phe323LeufsTer16)
c.276+17070del (n.276+17070del)
c.*220+5477del (n.*220+5477del)
c.93del (p.Phe31LeufsTer16)
c.120del (p.Phe40LeufsTer16)
c.975del (p.Phe325LeufsTer16)
c.789del (p.Phe263LeufsTer16)
c.708del (p.Phe236LeufsTer16)
c.414del (p.Phe138LeufsTer16)
c.795del (p.Phe265LeufsTer16)
 gnomAD v4
2g.48688748A>CCA346749952GTF2A1L,LHCGR,STON1-GTF2A1Lc.1049T>G (p.Phe350Cys)
c.948-609T>G (n.948-609T>G)
c.3441+17068A>C (n.3441+17068A>C)
c.948-165T>G (n.948-165T>G)
c.968T>G (p.Phe323Cys)
c.276+17068A>C (n.276+17068A>C)
c.*220+5476T>G (n.*220+5476T>G)
c.92T>G (p.Phe31Cys)
c.119T>G (p.Phe40Cys)
c.974T>G (p.Phe325Cys)
c.788T>G (p.Phe263Cys)
c.707T>G (p.Phe236Cys)
c.413T>G (p.Phe138Cys)
c.794T>G (p.Phe265Cys)
2g.48688748A>GCA346749963GTF2A1L,LHCGR,STON1-GTF2A1Lc.1049T>C (p.Phe350Ser)
c.948-609T>C (n.948-609T>C)
c.3441+17068A>G (n.3441+17068A>G)
c.948-165T>C (n.948-165T>C)
c.968T>C (p.Phe323Ser)
c.276+17068A>G (n.276+17068A>G)
c.*220+5476T>C (n.*220+5476T>C)
c.92T>C (p.Phe31Ser)
c.119T>C (p.Phe40Ser)
c.974T>C (p.Phe325Ser)
c.788T>C (p.Phe263Ser)
c.707T>C (p.Phe236Ser)
c.413T>C (p.Phe138Ser)
c.794T>C (p.Phe265Ser)
2g.48688748A>TCA346749970GTF2A1L,LHCGR,STON1-GTF2A1Lc.1049T>A (p.Phe350Tyr)
c.948-609T>A (n.948-609T>A)
c.3441+17068A>T (n.3441+17068A>T)
c.948-165T>A (n.948-165T>A)
c.968T>A (p.Phe323Tyr)
c.276+17068A>T (n.276+17068A>T)
c.*220+5476T>A (n.*220+5476T>A)
c.92T>A (p.Phe31Tyr)
c.119T>A (p.Phe40Tyr)
c.974T>A (p.Phe325Tyr)
c.788T>A (p.Phe263Tyr)
c.707T>A (p.Phe236Tyr)
c.413T>A (p.Phe138Tyr)
c.794T>A (p.Phe265Tyr)
2g.48688749A>CCA346749972GTF2A1L,LHCGR,STON1-GTF2A1Lc.1048T>G (p.Phe350Val)
c.948-610T>G (n.948-610T>G)
c.3441+17069A>C (n.3441+17069A>C)
c.948-166T>G (n.948-166T>G)
c.967T>G (p.Phe323Val)
c.276+17069A>C (n.276+17069A>C)
c.*220+5475T>G (n.*220+5475T>G)
c.91T>G (p.Phe31Val)
c.118T>G (p.Phe40Val)
c.973T>G (p.Phe325Val)
c.787T>G (p.Phe263Val)
c.706T>G (p.Phe236Val)
c.412T>G (p.Phe138Val)
c.793T>G (p.Phe265Val)
2g.48688749A>GCA346749975GTF2A1L,LHCGR,STON1-GTF2A1Lc.1048T>C (p.Phe350Leu)
c.948-610T>C (n.948-610T>C)
c.3441+17069A>G (n.3441+17069A>G)
c.948-166T>C (n.948-166T>C)
c.967T>C (p.Phe323Leu)
c.276+17069A>G (n.276+17069A>G)
c.*220+5475T>C (n.*220+5475T>C)
c.91T>C (p.Phe31Leu)
c.118T>C (p.Phe40Leu)
c.973T>C (p.Phe325Leu)
c.787T>C (p.Phe263Leu)
c.706T>C (p.Phe236Leu)
c.412T>C (p.Phe138Leu)
c.793T>C (p.Phe265Leu)
2g.48688749A>TCA346749981GTF2A1L,LHCGR,STON1-GTF2A1Lc.1048T>A (p.Phe350Ile)
c.948-610T>A (n.948-610T>A)
c.3441+17069A>T (n.3441+17069A>T)
c.948-166T>A (n.948-166T>A)
c.967T>A (p.Phe323Ile)
c.276+17069A>T (n.276+17069A>T)
c.*220+5475T>A (n.*220+5475T>A)
c.91T>A (p.Phe31Ile)
c.118T>A (p.Phe40Ile)
c.973T>A (p.Phe325Ile)
c.787T>A (p.Phe263Ile)
c.706T>A (p.Phe236Ile)
c.412T>A (p.Phe138Ile)
c.793T>A (p.Phe265Ile)
2g.48688750A=CA1248601255GTF2A1L,LHCGR,STON1-GTF2A1Lc.1047T= (p.Ala349=)
c.948-611T= (n.948-611T=)
c.3441+17070A= (n.3441+17070A=)
c.948-167T= (n.948-167T=)
c.966T= (p.Ala322=)
c.276+17070A= (n.276+17070A=)
c.*220+5474T= (n.*220+5474T=)
c.90T= (p.Ala30=)
c.117T= (p.Ala39=)
c.972T= (p.Ala324=)
c.786T= (p.Ala262=)
c.705T= (p.Ala235=)
c.411T= (p.Ala137=)
c.792T= (p.Ala264=)
2g.48688750A>CCA426124784GTF2A1L,LHCGR,STON1-GTF2A1Lc.1047T>G (p.Ala349=)
c.948-611T>G (n.948-611T>G)
c.3441+17070A>C (n.3441+17070A>C)
c.948-167T>G (n.948-167T>G)
c.966T>G (p.Ala322=)
c.276+17070A>C (n.276+17070A>C)
c.*220+5474T>G (n.*220+5474T>G)
c.90T>G (p.Ala30=)
c.117T>G (p.Ala39=)
c.972T>G (p.Ala324=)
c.786T>G (p.Ala262=)
c.705T>G (p.Ala235=)
c.411T>G (p.Ala137=)
c.792T>G (p.Ala264=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688750A>GCA426124785GTF2A1L,LHCGR,STON1-GTF2A1Lc.1047T>C (p.Ala349=)
c.948-611T>C (n.948-611T>C)
c.3441+17070A>G (n.3441+17070A>G)
c.948-167T>C (n.948-167T>C)
c.966T>C (p.Ala322=)
c.276+17070A>G (n.276+17070A>G)
c.*220+5474T>C (n.*220+5474T>C)
c.90T>C (p.Ala30=)
c.117T>C (p.Ala39=)
c.972T>C (p.Ala324=)
c.786T>C (p.Ala262=)
c.705T>C (p.Ala235=)
c.411T>C (p.Ala137=)
c.792T>C (p.Ala264=)
2g.48688750A>TCA426124786GTF2A1L,LHCGR,STON1-GTF2A1Lc.1047T>A (p.Ala349=)
c.948-611T>A (n.948-611T>A)
c.3441+17070A>T (n.3441+17070A>T)
c.948-167T>A (n.948-167T>A)
c.966T>A (p.Ala322=)
c.276+17070A>T (n.276+17070A>T)
c.*220+5474T>A (n.*220+5474T>A)
c.90T>A (p.Ala30=)
c.117T>A (p.Ala39=)
c.972T>A (p.Ala324=)
c.786T>A (p.Ala262=)
c.705T>A (p.Ala235=)
c.411T>A (p.Ala137=)
c.792T>A (p.Ala264=)
2g.48688751G>ACA1653089GTF2A1L,LHCGR,STON1-GTF2A1Lc.1046C>T (p.Ala349Val)
c.948-612C>T (n.948-612C>T)
c.3441+17071G>A (n.3441+17071G>A)
c.948-168C>T (n.948-168C>T)
c.965C>T (p.Ala322Val)
c.276+17071G>A (n.276+17071G>A)
c.*220+5473C>T (n.*220+5473C>T)
c.89C>T (p.Ala30Val)
c.116C>T (p.Ala39Val)
c.971C>T (p.Ala324Val)
c.785C>T (p.Ala262Val)
c.704C>T (p.Ala235Val)
c.410C>T (p.Ala137Val)
c.791C>T (p.Ala264Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688751G>CCA346749991GTF2A1L,LHCGR,STON1-GTF2A1Lc.1046C>G (p.Ala349Gly)
c.948-612C>G (n.948-612C>G)
c.3441+17071G>C (n.3441+17071G>C)
c.948-168C>G (n.948-168C>G)
c.965C>G (p.Ala322Gly)
c.276+17071G>C (n.276+17071G>C)
c.*220+5473C>G (n.*220+5473C>G)
c.89C>G (p.Ala30Gly)
c.116C>G (p.Ala39Gly)
c.971C>G (p.Ala324Gly)
c.785C>G (p.Ala262Gly)
c.704C>G (p.Ala235Gly)
c.410C>G (p.Ala137Gly)
c.791C>G (p.Ala264Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.48688751G=CA1248601256GTF2A1L,LHCGR,STON1-GTF2A1Lc.1046C= (p.Ala349=)
c.948-612C= (n.948-612C=)
c.3441+17071G= (n.3441+17071G=)
c.948-168C= (n.948-168C=)
c.965C= (p.Ala322=)
c.276+17071G= (n.276+17071G=)
c.*220+5473C= (n.*220+5473C=)
c.89C= (p.Ala30=)
c.116C= (p.Ala39=)
c.971C= (p.Ala324=)
c.785C= (p.Ala262=)
c.704C= (p.Ala235=)
c.410C= (p.Ala137=)
c.791C= (p.Ala264=)
2g.48688751G>TCA346749987GTF2A1L,LHCGR,STON1-GTF2A1Lc.1046C>A (p.Ala349Asp)
c.948-612C>A (n.948-612C>A)
c.3441+17071G>T (n.3441+17071G>T)
c.948-168C>A (n.948-168C>A)
c.965C>A (p.Ala322Asp)
c.276+17071G>T (n.276+17071G>T)
c.*220+5473C>A (n.*220+5473C>A)
c.89C>A (p.Ala30Asp)
c.116C>A (p.Ala39Asp)
c.971C>A (p.Ala324Asp)
c.785C>A (p.Ala262Asp)
c.704C>A (p.Ala235Asp)
c.410C>A (p.Ala137Asp)
c.791C>A (p.Ala264Asp)
 dbSNP gnomAD v3 gnomAD v4
2g.48688752C>ACA346749995GTF2A1L,LHCGR,STON1-GTF2A1Lc.1045G>T (p.Ala349Ser)
c.948-613G>T (n.948-613G>T)
c.3441+17072C>A (n.3441+17072C>A)
c.948-169G>T (n.948-169G>T)
c.964G>T (p.Ala322Ser)
c.276+17072C>A (n.276+17072C>A)
c.*220+5472G>T (n.*220+5472G>T)
c.88G>T (p.Ala30Ser)
c.115G>T (p.Ala39Ser)
c.970G>T (p.Ala324Ser)
c.784G>T (p.Ala262Ser)
c.703G>T (p.Ala235Ser)
c.409G>T (p.Ala137Ser)
c.790G>T (p.Ala264Ser)
2g.48688752C=CA1248601257GTF2A1L,LHCGR,STON1-GTF2A1Lc.1045G= (p.Ala349=)
c.948-613G= (n.948-613G=)
c.3441+17072C= (n.3441+17072C=)
c.948-169G= (n.948-169G=)
c.964G= (p.Ala322=)
c.276+17072C= (n.276+17072C=)
c.*220+5472G= (n.*220+5472G=)
c.88G= (p.Ala30=)
c.115G= (p.Ala39=)
c.970G= (p.Ala324=)
c.784G= (p.Ala262=)
c.703G= (p.Ala235=)
c.409G= (p.Ala137=)
c.790G= (p.Ala264=)
2g.48688752C>GCA346749996GTF2A1L,LHCGR,STON1-GTF2A1Lc.1045G>C (p.Ala349Pro)
c.948-613G>C (n.948-613G>C)
c.3441+17072C>G (n.3441+17072C>G)
c.948-169G>C (n.948-169G>C)
c.964G>C (p.Ala322Pro)
c.276+17072C>G (n.276+17072C>G)
c.*220+5472G>C (n.*220+5472G>C)
c.88G>C (p.Ala30Pro)
c.115G>C (p.Ala39Pro)
c.970G>C (p.Ala324Pro)
c.784G>C (p.Ala262Pro)
c.703G>C (p.Ala235Pro)
c.409G>C (p.Ala137Pro)
c.790G>C (p.Ala264Pro)
 dbSNP
2g.48688752C>TCA46753361GTF2A1L,LHCGR,STON1-GTF2A1Lc.1045G>A (p.Ala349Thr)
c.948-613G>A (n.948-613G>A)
c.3441+17072C>T (n.3441+17072C>T)
c.948-169G>A (n.948-169G>A)
c.964G>A (p.Ala322Thr)
c.276+17072C>T (n.276+17072C>T)
c.*220+5472G>A (n.*220+5472G>A)
c.88G>A (p.Ala30Thr)
c.115G>A (p.Ala39Thr)
c.970G>A (p.Ala324Thr)
c.784G>A (p.Ala262Thr)
c.703G>A (p.Ala235Thr)
c.409G>A (p.Ala137Thr)
c.790G>A (p.Ala264Thr)
 dbSNP gnomAD v4
2g.48688753A=CA1248601258GTF2A1L,LHCGR,STON1-GTF2A1Lc.1044T= (p.Asp348=)
c.948-614T= (n.948-614T=)
c.3441+17073A= (n.3441+17073A=)
c.948-170T= (n.948-170T=)
c.963T= (p.Asp321=)
c.276+17073A= (n.276+17073A=)
c.*220+5471T= (n.*220+5471T=)
c.87T= (p.Asp29=)
c.114T= (p.Asp38=)
c.969T= (p.Asp323=)
c.783T= (p.Asp261=)
c.702T= (p.Asp234=)
c.408T= (p.Asp136=)
c.789T= (p.Asp263=)
2g.48688753A>CCA346749999GTF2A1L,LHCGR,STON1-GTF2A1Lc.1044T>G (p.Asp348Glu)
c.948-614T>G (n.948-614T>G)
c.3441+17073A>C (n.3441+17073A>C)
c.948-170T>G (n.948-170T>G)
c.963T>G (p.Asp321Glu)
c.276+17073A>C (n.276+17073A>C)
c.*220+5471T>G (n.*220+5471T>G)
c.87T>G (p.Asp29Glu)
c.114T>G (p.Asp38Glu)
c.969T>G (p.Asp323Glu)
c.783T>G (p.Asp261Glu)
c.702T>G (p.Asp234Glu)
c.408T>G (p.Asp136Glu)
c.789T>G (p.Asp263Glu)
2g.48688753A>GCA1653090GTF2A1L,LHCGR,STON1-GTF2A1Lc.1044T>C (p.Asp348=)
c.948-614T>C (n.948-614T>C)
c.3441+17073A>G (n.3441+17073A>G)
c.948-170T>C (n.948-170T>C)
c.963T>C (p.Asp321=)
c.276+17073A>G (n.276+17073A>G)
c.*220+5471T>C (n.*220+5471T>C)
c.87T>C (p.Asp29=)
c.114T>C (p.Asp38=)
c.969T>C (p.Asp323=)
c.783T>C (p.Asp261=)
c.702T>C (p.Asp234=)
c.408T>C (p.Asp136=)
c.789T>C (p.Asp263=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688753A>TCA346750002GTF2A1L,LHCGR,STON1-GTF2A1Lc.1044T>A (p.Asp348Glu)
c.948-614T>A (n.948-614T>A)
c.3441+17073A>T (n.3441+17073A>T)
c.948-170T>A (n.948-170T>A)
c.963T>A (p.Asp321Glu)
c.276+17073A>T (n.276+17073A>T)
c.*220+5471T>A (n.*220+5471T>A)
c.87T>A (p.Asp29Glu)
c.114T>A (p.Asp38Glu)
c.969T>A (p.Asp323Glu)
c.783T>A (p.Asp261Glu)
c.702T>A (p.Asp234Glu)
c.408T>A (p.Asp136Glu)
c.789T>A (p.Asp263Glu)
2g.48688754T>ACA346750004GTF2A1L,LHCGR,STON1-GTF2A1Lc.1043A>T (p.Asp348Val)
c.948-615A>T (n.948-615A>T)
c.3441+17074T>A (n.3441+17074T>A)
c.948-171A>T (n.948-171A>T)
c.962A>T (p.Asp321Val)
c.276+17074T>A (n.276+17074T>A)
c.*220+5470A>T (n.*220+5470A>T)
c.86A>T (p.Asp29Val)
c.113A>T (p.Asp38Val)
c.968A>T (p.Asp323Val)
c.782A>T (p.Asp261Val)
c.701A>T (p.Asp234Val)
c.407A>T (p.Asp136Val)
c.788A>T (p.Asp263Val)
2g.48688754T>CCA346750009GTF2A1L,LHCGR,STON1-GTF2A1Lc.1043A>G (p.Asp348Gly)
c.948-615A>G (n.948-615A>G)
c.3441+17074T>C (n.3441+17074T>C)
c.948-171A>G (n.948-171A>G)
c.962A>G (p.Asp321Gly)
c.276+17074T>C (n.276+17074T>C)
c.*220+5470A>G (n.*220+5470A>G)
c.86A>G (p.Asp29Gly)
c.113A>G (p.Asp38Gly)
c.968A>G (p.Asp323Gly)
c.782A>G (p.Asp261Gly)
c.701A>G (p.Asp234Gly)
c.407A>G (p.Asp136Gly)
c.788A>G (p.Asp263Gly)
2g.48688754T>GCA346750006GTF2A1L,LHCGR,STON1-GTF2A1Lc.1043A>C (p.Asp348Ala)
c.948-615A>C (n.948-615A>C)
c.3441+17074T>G (n.3441+17074T>G)
c.948-171A>C (n.948-171A>C)
c.962A>C (p.Asp321Ala)
c.276+17074T>G (n.276+17074T>G)
c.*220+5470A>C (n.*220+5470A>C)
c.86A>C (p.Asp29Ala)
c.113A>C (p.Asp38Ala)
c.968A>C (p.Asp323Ala)
c.782A>C (p.Asp261Ala)
c.701A>C (p.Asp234Ala)
c.407A>C (p.Asp136Ala)
c.788A>C (p.Asp263Ala)
2g.48688755C>ACA346750010GTF2A1L,LHCGR,STON1-GTF2A1Lc.1042G>T (p.Asp348Tyr)
c.948-616G>T (n.948-616G>T)
c.3441+17075C>A (n.3441+17075C>A)
c.948-172G>T (n.948-172G>T)
c.961G>T (p.Asp321Tyr)
c.276+17075C>A (n.276+17075C>A)
c.*220+5469G>T (n.*220+5469G>T)
c.85G>T (p.Asp29Tyr)
c.112G>T (p.Asp38Tyr)
c.967G>T (p.Asp323Tyr)
c.781G>T (p.Asp261Tyr)
c.700G>T (p.Asp234Tyr)
c.406G>T (p.Asp136Tyr)
c.787G>T (p.Asp263Tyr)
2g.48688755C>GCA346750011GTF2A1L,LHCGR,STON1-GTF2A1Lc.1042G>C (p.Asp348His)
c.948-616G>C (n.948-616G>C)
c.3441+17075C>G (n.3441+17075C>G)
c.948-172G>C (n.948-172G>C)
c.961G>C (p.Asp321His)
c.276+17075C>G (n.276+17075C>G)
c.*220+5469G>C (n.*220+5469G>C)
c.85G>C (p.Asp29His)
c.112G>C (p.Asp38His)
c.967G>C (p.Asp323His)
c.781G>C (p.Asp261His)
c.700G>C (p.Asp234His)
c.406G>C (p.Asp136His)
c.787G>C (p.Asp263His)
 COSMIC
2g.48688755C>TCA346750012GTF2A1L,LHCGR,STON1-GTF2A1Lc.1042G>A (p.Asp348Asn)
c.948-616G>A (n.948-616G>A)
c.3441+17075C>T (n.3441+17075C>T)
c.948-172G>A (n.948-172G>A)
c.961G>A (p.Asp321Asn)
c.276+17075C>T (n.276+17075C>T)
c.*220+5469G>A (n.*220+5469G>A)
c.85G>A (p.Asp29Asn)
c.112G>A (p.Asp38Asn)
c.967G>A (p.Asp323Asn)
c.781G>A (p.Asp261Asn)
c.700G>A (p.Asp234Asn)
c.406G>A (p.Asp136Asn)
c.787G>A (p.Asp263Asn)
2g.48688756T>ACA426124790GTF2A1L,LHCGR,STON1-GTF2A1Lc.1041A>T (p.Pro347=)
c.948-617A>T (n.948-617A>T)
c.3441+17076T>A (n.3441+17076T>A)
c.948-173A>T (n.948-173A>T)
c.960A>T (p.Pro320=)
c.276+17076T>A (n.276+17076T>A)
c.*220+5468A>T (n.*220+5468A>T)
c.84A>T (p.Pro28=)
c.111A>T (p.Pro37=)
c.966A>T (p.Pro322=)
c.780A>T (p.Pro260=)
c.699A>T (p.Pro233=)
c.405A>T (p.Pro135=)
c.786A>T (p.Pro262=)
2g.48688756T>CCA426124791GTF2A1L,LHCGR,STON1-GTF2A1Lc.1041A>G (p.Pro347=)
c.948-617A>G (n.948-617A>G)
c.3441+17076T>C (n.3441+17076T>C)
c.948-173A>G (n.948-173A>G)
c.960A>G (p.Pro320=)
c.276+17076T>C (n.276+17076T>C)
c.*220+5468A>G (n.*220+5468A>G)
c.84A>G (p.Pro28=)
c.111A>G (p.Pro37=)
c.966A>G (p.Pro322=)
c.780A>G (p.Pro260=)
c.699A>G (p.Pro233=)
c.405A>G (p.Pro135=)
c.786A>G (p.Pro262=)
 gnomAD v4 COSMIC
2g.48688756T>GCA426124792GTF2A1L,LHCGR,STON1-GTF2A1Lc.1041A>C (p.Pro347=)
c.948-617A>C (n.948-617A>C)
c.3441+17076T>G (n.3441+17076T>G)
c.948-173A>C (n.948-173A>C)
c.960A>C (p.Pro320=)
c.276+17076T>G (n.276+17076T>G)
c.*220+5468A>C (n.*220+5468A>C)
c.84A>C (p.Pro28=)
c.111A>C (p.Pro37=)
c.966A>C (p.Pro322=)
c.780A>C (p.Pro260=)
c.699A>C (p.Pro233=)
c.405A>C (p.Pro135=)
c.786A>C (p.Pro262=)
2g.48688757G>ACA346750013GTF2A1L,LHCGR,STON1-GTF2A1Lc.1040C>T (p.Pro347Leu)
c.948-618C>T (n.948-618C>T)
c.3441+17077G>A (n.3441+17077G>A)
c.948-174C>T (n.948-174C>T)
c.959C>T (p.Pro320Leu)
c.276+17077G>A (n.276+17077G>A)
c.*220+5467C>T (n.*220+5467C>T)
c.83C>T (p.Pro28Leu)
c.110C>T (p.Pro37Leu)
c.965C>T (p.Pro322Leu)
c.779C>T (p.Pro260Leu)
c.698C>T (p.Pro233Leu)
c.404C>T (p.Pro135Leu)
c.785C>T (p.Pro262Leu)
2g.48688757G>CCA346750014GTF2A1L,LHCGR,STON1-GTF2A1Lc.1040C>G (p.Pro347Arg)
c.948-618C>G (n.948-618C>G)
c.3441+17077G>C (n.3441+17077G>C)
c.948-174C>G (n.948-174C>G)
c.959C>G (p.Pro320Arg)
c.276+17077G>C (n.276+17077G>C)
c.*220+5467C>G (n.*220+5467C>G)
c.83C>G (p.Pro28Arg)
c.110C>G (p.Pro37Arg)
c.965C>G (p.Pro322Arg)
c.779C>G (p.Pro260Arg)
c.698C>G (p.Pro233Arg)
c.404C>G (p.Pro135Arg)
c.785C>G (p.Pro262Arg)
2g.48688757G>TCA346750017GTF2A1L,LHCGR,STON1-GTF2A1Lc.1040C>A (p.Pro347Gln)
c.948-618C>A (n.948-618C>A)
c.3441+17077G>T (n.3441+17077G>T)
c.948-174C>A (n.948-174C>A)
c.959C>A (p.Pro320Gln)
c.276+17077G>T (n.276+17077G>T)
c.*220+5467C>A (n.*220+5467C>A)
c.83C>A (p.Pro28Gln)
c.110C>A (p.Pro37Gln)
c.965C>A (p.Pro322Gln)
c.779C>A (p.Pro260Gln)
c.698C>A (p.Pro233Gln)
c.404C>A (p.Pro135Gln)
c.785C>A (p.Pro262Gln)
2g.48688758G>ACA346750018GTF2A1L,LHCGR,STON1-GTF2A1Lc.1039C>T (p.Pro347Ser)
c.948-619C>T (n.948-619C>T)
c.3441+17078G>A (n.3441+17078G>A)
c.948-175C>T (n.948-175C>T)
c.958C>T (p.Pro320Ser)
c.276+17078G>A (n.276+17078G>A)
c.*220+5466C>T (n.*220+5466C>T)
c.82C>T (p.Pro28Ser)
c.109C>T (p.Pro37Ser)
c.964C>T (p.Pro322Ser)
c.778C>T (p.Pro260Ser)
c.697C>T (p.Pro233Ser)
c.403C>T (p.Pro135Ser)
c.784C>T (p.Pro262Ser)
2g.48688758G>CCA1653091GTF2A1L,LHCGR,STON1-GTF2A1Lc.1039C>G (p.Pro347Ala)
c.948-619C>G (n.948-619C>G)
c.3441+17078G>C (n.3441+17078G>C)
c.948-175C>G (n.948-175C>G)
c.958C>G (p.Pro320Ala)
c.276+17078G>C (n.276+17078G>C)
c.*220+5466C>G (n.*220+5466C>G)
c.82C>G (p.Pro28Ala)
c.109C>G (p.Pro37Ala)
c.964C>G (p.Pro322Ala)
c.778C>G (p.Pro260Ala)
c.697C>G (p.Pro233Ala)
c.403C>G (p.Pro135Ala)
c.784C>G (p.Pro262Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688758G=CA1248601259GTF2A1L,LHCGR,STON1-GTF2A1Lc.1039C= (p.Pro347=)
c.948-619C= (n.948-619C=)
c.3441+17078G= (n.3441+17078G=)
c.948-175C= (n.948-175C=)
c.958C= (p.Pro320=)
c.276+17078G= (n.276+17078G=)
c.*220+5466C= (n.*220+5466C=)
c.82C= (p.Pro28=)
c.109C= (p.Pro37=)
c.964C= (p.Pro322=)
c.778C= (p.Pro260=)
c.697C= (p.Pro233=)
c.403C= (p.Pro135=)
c.784C= (p.Pro262=)
2g.48688758G>TCA346750022GTF2A1L,LHCGR,STON1-GTF2A1Lc.1039C>A (p.Pro347Thr)
c.948-619C>A (n.948-619C>A)
c.3441+17078G>T (n.3441+17078G>T)
c.948-175C>A (n.948-175C>A)
c.958C>A (p.Pro320Thr)
c.276+17078G>T (n.276+17078G>T)
c.*220+5466C>A (n.*220+5466C>A)
c.82C>A (p.Pro28Thr)
c.109C>A (p.Pro37Thr)
c.964C>A (p.Pro322Thr)
c.778C>A (p.Pro260Thr)
c.697C>A (p.Pro233Thr)
c.403C>A (p.Pro135Thr)
c.784C>A (p.Pro262Thr)
2g.48688759T>ACA346750024GTF2A1L,LHCGR,STON1-GTF2A1Lc.1038A>T (p.Glu346Asp)
c.948-620A>T (n.948-620A>T)
c.3441+17079T>A (n.3441+17079T>A)
c.948-176A>T (n.948-176A>T)
c.957A>T (p.Glu319Asp)
c.276+17079T>A (n.276+17079T>A)
c.*220+5465A>T (n.*220+5465A>T)
c.81A>T (p.Glu27Asp)
c.108A>T (p.Glu36Asp)
c.963A>T (p.Glu321Asp)
c.777A>T (p.Glu259Asp)
c.696A>T (p.Glu232Asp)
c.402A>T (p.Glu134Asp)
c.783A>T (p.Glu261Asp)
2g.48688759T>CCA426124796GTF2A1L,LHCGR,STON1-GTF2A1Lc.1038A>G (p.Glu346=)
c.948-620A>G (n.948-620A>G)
c.3441+17079T>C (n.3441+17079T>C)
c.948-176A>G (n.948-176A>G)
c.957A>G (p.Glu319=)
c.276+17079T>C (n.276+17079T>C)
c.*220+5465A>G (n.*220+5465A>G)
c.81A>G (p.Glu27=)
c.108A>G (p.Glu36=)
c.963A>G (p.Glu321=)
c.777A>G (p.Glu259=)
c.696A>G (p.Glu232=)
c.402A>G (p.Glu134=)
c.783A>G (p.Glu261=)
2g.48688759T>GCA346750034GTF2A1L,LHCGR,STON1-GTF2A1Lc.1038A>C (p.Glu346Asp)
c.948-620A>C (n.948-620A>C)
c.3441+17079T>G (n.3441+17079T>G)
c.948-176A>C (n.948-176A>C)
c.957A>C (p.Glu319Asp)
c.276+17079T>G (n.276+17079T>G)
c.*220+5465A>C (n.*220+5465A>C)
c.81A>C (p.Glu27Asp)
c.108A>C (p.Glu36Asp)
c.963A>C (p.Glu321Asp)
c.777A>C (p.Glu259Asp)
c.696A>C (p.Glu232Asp)
c.402A>C (p.Glu134Asp)
c.783A>C (p.Glu261Asp)
2g.48688760T>ACA346750037GTF2A1L,LHCGR,STON1-GTF2A1Lc.1037A>T (p.Glu346Val)
c.948-621A>T (n.948-621A>T)
c.3441+17080T>A (n.3441+17080T>A)
c.948-177A>T (n.948-177A>T)
c.956A>T (p.Glu319Val)
c.276+17080T>A (n.276+17080T>A)
c.*220+5464A>T (n.*220+5464A>T)
c.80A>T (p.Glu27Val)
c.107A>T (p.Glu36Val)
c.962A>T (p.Glu321Val)
c.776A>T (p.Glu259Val)
c.695A>T (p.Glu232Val)
c.401A>T (p.Glu134Val)
c.782A>T (p.Glu261Val)
2g.48688760T>CCA346750048GTF2A1L,LHCGR,STON1-GTF2A1Lc.1037A>G (p.Glu346Gly)
c.948-621A>G (n.948-621A>G)
c.3441+17080T>C (n.3441+17080T>C)
c.948-177A>G (n.948-177A>G)
c.956A>G (p.Glu319Gly)
c.276+17080T>C (n.276+17080T>C)
c.*220+5464A>G (n.*220+5464A>G)
c.80A>G (p.Glu27Gly)
c.107A>G (p.Glu36Gly)
c.962A>G (p.Glu321Gly)
c.776A>G (p.Glu259Gly)
c.695A>G (p.Glu232Gly)
c.401A>G (p.Glu134Gly)
c.782A>G (p.Glu261Gly)
2g.48688760T>GCA346750040GTF2A1L,LHCGR,STON1-GTF2A1Lc.1037A>C (p.Glu346Ala)
c.948-621A>C (n.948-621A>C)
c.3441+17080T>G (n.3441+17080T>G)
c.948-177A>C (n.948-177A>C)
c.956A>C (p.Glu319Ala)
c.276+17080T>G (n.276+17080T>G)
c.*220+5464A>C (n.*220+5464A>C)
c.80A>C (p.Glu27Ala)
c.107A>C (p.Glu36Ala)
c.962A>C (p.Glu321Ala)
c.776A>C (p.Glu259Ala)
c.695A>C (p.Glu232Ala)
c.401A>C (p.Glu134Ala)
c.782A>C (p.Glu261Ala)
2g.48688761C>ACA346750049GTF2A1L,LHCGR,STON1-GTF2A1Lc.1036G>T (p.Glu346Ter)
c.948-622G>T (n.948-622G>T)
c.3441+17081C>A (n.3441+17081C>A)
c.948-178G>T (n.948-178G>T)
c.955G>T (p.Glu319Ter)
c.276+17081C>A (n.276+17081C>A)
c.*220+5463G>T (n.*220+5463G>T)
c.79G>T (p.Glu27Ter)
c.106G>T (p.Glu36Ter)
c.961G>T (p.Glu321Ter)
c.775G>T (p.Glu259Ter)
c.694G>T (p.Glu232Ter)
c.400G>T (p.Glu134Ter)
c.781G>T (p.Glu261Ter)
2g.48688761C>GCA346750053GTF2A1L,LHCGR,STON1-GTF2A1Lc.1036G>C (p.Glu346Gln)
c.948-622G>C (n.948-622G>C)
c.3441+17081C>G (n.3441+17081C>G)
c.948-178G>C (n.948-178G>C)
c.955G>C (p.Glu319Gln)
c.276+17081C>G (n.276+17081C>G)
c.*220+5463G>C (n.*220+5463G>C)
c.79G>C (p.Glu27Gln)
c.106G>C (p.Glu36Gln)
c.961G>C (p.Glu321Gln)
c.775G>C (p.Glu259Gln)
c.694G>C (p.Glu232Gln)
c.400G>C (p.Glu134Gln)
c.781G>C (p.Glu261Gln)
2g.48688761C>TCA346750051GTF2A1L,LHCGR,STON1-GTF2A1Lc.1036G>A (p.Glu346Lys)
c.948-622G>A (n.948-622G>A)
c.3441+17081C>T (n.3441+17081C>T)
c.948-178G>A (n.948-178G>A)
c.955G>A (p.Glu319Lys)
c.276+17081C>T (n.276+17081C>T)
c.*220+5463G>A (n.*220+5463G>A)
c.79G>A (p.Glu27Lys)
c.106G>A (p.Glu36Lys)
c.961G>A (p.Glu321Lys)
c.775G>A (p.Glu259Lys)
c.694G>A (p.Glu232Lys)
c.400G>A (p.Glu134Lys)
c.781G>A (p.Glu261Lys)
 COSMIC
2g.48688762A>CCA426124800GTF2A1L,LHCGR,STON1-GTF2A1Lc.1035T>G (p.Pro345=)
c.948-623T>G (n.948-623T>G)
c.3441+17082A>C (n.3441+17082A>C)
c.948-179T>G (n.948-179T>G)
c.954T>G (p.Pro318=)
c.276+17082A>C (n.276+17082A>C)
c.*220+5462T>G (n.*220+5462T>G)
c.78T>G (p.Pro26=)
c.105T>G (p.Pro35=)
c.960T>G (p.Pro320=)
c.774T>G (p.Pro258=)
c.693T>G (p.Pro231=)
c.399T>G (p.Pro133=)
c.780T>G (p.Pro260=)
2g.48688762A>GCA426124801GTF2A1L,LHCGR,STON1-GTF2A1Lc.1035T>C (p.Pro345=)
c.948-623T>C (n.948-623T>C)
c.3441+17082A>G (n.3441+17082A>G)
c.948-179T>C (n.948-179T>C)
c.954T>C (p.Pro318=)
c.276+17082A>G (n.276+17082A>G)
c.*220+5462T>C (n.*220+5462T>C)
c.78T>C (p.Pro26=)
c.105T>C (p.Pro35=)
c.960T>C (p.Pro320=)
c.774T>C (p.Pro258=)
c.693T>C (p.Pro231=)
c.399T>C (p.Pro133=)
c.780T>C (p.Pro260=)
2g.48688762A>TCA426124802GTF2A1L,LHCGR,STON1-GTF2A1Lc.1035T>A (p.Pro345=)
c.948-623T>A (n.948-623T>A)
c.3441+17082A>T (n.3441+17082A>T)
c.948-179T>A (n.948-179T>A)
c.954T>A (p.Pro318=)
c.276+17082A>T (n.276+17082A>T)
c.*220+5462T>A (n.*220+5462T>A)
c.78T>A (p.Pro26=)
c.105T>A (p.Pro35=)
c.960T>A (p.Pro320=)
c.774T>A (p.Pro258=)
c.693T>A (p.Pro231=)
c.399T>A (p.Pro133=)
c.780T>A (p.Pro260=)
2g.48688763G>ACA346750055GTF2A1L,LHCGR,STON1-GTF2A1Lc.1034C>T (p.Pro345Leu)
c.948-624C>T (n.948-624C>T)
c.3441+17083G>A (n.3441+17083G>A)
c.948-180C>T (n.948-180C>T)
c.953C>T (p.Pro318Leu)
c.276+17083G>A (n.276+17083G>A)
c.*220+5461C>T (n.*220+5461C>T)
c.77C>T (p.Pro26Leu)
c.104C>T (p.Pro35Leu)
c.959C>T (p.Pro320Leu)
c.773C>T (p.Pro258Leu)
c.692C>T (p.Pro231Leu)
c.398C>T (p.Pro133Leu)
c.779C>T (p.Pro260Leu)
2g.48688763G>CCA346750060GTF2A1L,LHCGR,STON1-GTF2A1Lc.1034C>G (p.Pro345Arg)
c.948-624C>G (n.948-624C>G)
c.3441+17083G>C (n.3441+17083G>C)
c.948-180C>G (n.948-180C>G)
c.953C>G (p.Pro318Arg)
c.276+17083G>C (n.276+17083G>C)
c.*220+5461C>G (n.*220+5461C>G)
c.77C>G (p.Pro26Arg)
c.104C>G (p.Pro35Arg)
c.959C>G (p.Pro320Arg)
c.773C>G (p.Pro258Arg)
c.692C>G (p.Pro231Arg)
c.398C>G (p.Pro133Arg)
c.779C>G (p.Pro260Arg)
2g.48688763G>TCA346750058GTF2A1L,LHCGR,STON1-GTF2A1Lc.1034C>A (p.Pro345His)
c.948-624C>A (n.948-624C>A)
c.3441+17083G>T (n.3441+17083G>T)
c.948-180C>A (n.948-180C>A)
c.953C>A (p.Pro318His)
c.276+17083G>T (n.276+17083G>T)
c.*220+5461C>A (n.*220+5461C>A)
c.77C>A (p.Pro26His)
c.104C>A (p.Pro35His)
c.959C>A (p.Pro320His)
c.773C>A (p.Pro258His)
c.692C>A (p.Pro231His)
c.398C>A (p.Pro133His)
c.779C>A (p.Pro260His)
2g.48688764G>ACA346750061GTF2A1L,LHCGR,STON1-GTF2A1Lc.1033C>T (p.Pro345Ser)
c.948-625C>T (n.948-625C>T)
c.3441+17084G>A (n.3441+17084G>A)
c.948-181C>T (n.948-181C>T)
c.952C>T (p.Pro318Ser)
c.276+17084G>A (n.276+17084G>A)
c.*220+5460C>T (n.*220+5460C>T)
c.76C>T (p.Pro26Ser)
c.103C>T (p.Pro35Ser)
c.958C>T (p.Pro320Ser)
c.772C>T (p.Pro258Ser)
c.691C>T (p.Pro231Ser)
c.397C>T (p.Pro133Ser)
c.778C>T (p.Pro260Ser)
 gnomAD v4 COSMIC
2g.48688764G>CCA346750062GTF2A1L,LHCGR,STON1-GTF2A1Lc.1033C>G (p.Pro345Ala)
c.948-625C>G (n.948-625C>G)
c.3441+17084G>C (n.3441+17084G>C)
c.948-181C>G (n.948-181C>G)
c.952C>G (p.Pro318Ala)
c.276+17084G>C (n.276+17084G>C)
c.*220+5460C>G (n.*220+5460C>G)
c.76C>G (p.Pro26Ala)
c.103C>G (p.Pro35Ala)
c.958C>G (p.Pro320Ala)
c.772C>G (p.Pro258Ala)
c.691C>G (p.Pro231Ala)
c.397C>G (p.Pro133Ala)
c.778C>G (p.Pro260Ala)
2g.48688764G>TCA346750064GTF2A1L,LHCGR,STON1-GTF2A1Lc.1033C>A (p.Pro345Thr)
c.948-625C>A (n.948-625C>A)
c.3441+17084G>T (n.3441+17084G>T)
c.948-181C>A (n.948-181C>A)
c.952C>A (p.Pro318Thr)
c.276+17084G>T (n.276+17084G>T)
c.*220+5460C>A (n.*220+5460C>A)
c.76C>A (p.Pro26Thr)
c.103C>A (p.Pro35Thr)
c.958C>A (p.Pro320Thr)
c.772C>A (p.Pro258Thr)
c.691C>A (p.Pro231Thr)
c.397C>A (p.Pro133Thr)
c.778C>A (p.Pro260Thr)
2g.48688765A>CCA426124806GTF2A1L,LHCGR,STON1-GTF2A1Lc.1032T>G (p.Ala344=)
c.948-626T>G (n.948-626T>G)
c.3441+17085A>C (n.3441+17085A>C)
c.948-182T>G (n.948-182T>G)
c.951T>G (p.Ala317=)
c.276+17085A>C (n.276+17085A>C)
c.*220+5459T>G (n.*220+5459T>G)
c.75T>G (p.Ala25=)
c.102T>G (p.Ala34=)
c.957T>G (p.Ala319=)
c.771T>G (p.Ala257=)
c.690T>G (p.Ala230=)
c.396T>G (p.Ala132=)
c.777T>G (p.Ala259=)
2g.48688765A>GCA426124807GTF2A1L,LHCGR,STON1-GTF2A1Lc.1032T>C (p.Ala344=)
c.948-626T>C (n.948-626T>C)
c.3441+17085A>G (n.3441+17085A>G)
c.948-182T>C (n.948-182T>C)
c.951T>C (p.Ala317=)
c.276+17085A>G (n.276+17085A>G)
c.*220+5459T>C (n.*220+5459T>C)
c.75T>C (p.Ala25=)
c.102T>C (p.Ala34=)
c.957T>C (p.Ala319=)
c.771T>C (p.Ala257=)
c.690T>C (p.Ala230=)
c.396T>C (p.Ala132=)
c.777T>C (p.Ala259=)
2g.48688765A>TCA426124808GTF2A1L,LHCGR,STON1-GTF2A1Lc.1032T>A (p.Ala344=)
c.948-626T>A (n.948-626T>A)
c.3441+17085A>T (n.3441+17085A>T)
c.948-182T>A (n.948-182T>A)
c.951T>A (p.Ala317=)
c.276+17085A>T (n.276+17085A>T)
c.*220+5459T>A (n.*220+5459T>A)
c.75T>A (p.Ala25=)
c.102T>A (p.Ala34=)
c.957T>A (p.Ala319=)
c.771T>A (p.Ala257=)
c.690T>A (p.Ala230=)
c.396T>A (p.Ala132=)
c.777T>A (p.Ala259=)
2g.48688766G>ACA1653092GTF2A1L,LHCGR,STON1-GTF2A1Lc.1031C>T (p.Ala344Val)
c.948-627C>T (n.948-627C>T)
c.3441+17086G>A (n.3441+17086G>A)
c.948-183C>T (n.948-183C>T)
c.950C>T (p.Ala317Val)
c.276+17086G>A (n.276+17086G>A)
c.*220+5458C>T (n.*220+5458C>T)
c.74C>T (p.Ala25Val)
c.101C>T (p.Ala34Val)
c.956C>T (p.Ala319Val)
c.770C>T (p.Ala257Val)
c.689C>T (p.Ala230Val)
c.395C>T (p.Ala132Val)
c.776C>T (p.Ala259Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688766G>CCA346750067GTF2A1L,LHCGR,STON1-GTF2A1Lc.1031C>G (p.Ala344Gly)
c.948-627C>G (n.948-627C>G)
c.3441+17086G>C (n.3441+17086G>C)
c.948-183C>G (n.948-183C>G)
c.950C>G (p.Ala317Gly)
c.276+17086G>C (n.276+17086G>C)
c.*220+5458C>G (n.*220+5458C>G)
c.74C>G (p.Ala25Gly)
c.101C>G (p.Ala34Gly)
c.956C>G (p.Ala319Gly)
c.770C>G (p.Ala257Gly)
c.689C>G (p.Ala230Gly)
c.395C>G (p.Ala132Gly)
c.776C>G (p.Ala259Gly)
2g.48688766G=CA1248601260GTF2A1L,LHCGR,STON1-GTF2A1Lc.1031C= (p.Ala344=)
c.948-627C= (n.948-627C=)
c.3441+17086G= (n.3441+17086G=)
c.948-183C= (n.948-183C=)
c.950C= (p.Ala317=)
c.276+17086G= (n.276+17086G=)
c.*220+5458C= (n.*220+5458C=)
c.74C= (p.Ala25=)
c.101C= (p.Ala34=)
c.956C= (p.Ala319=)
c.770C= (p.Ala257=)
c.689C= (p.Ala230=)
c.395C= (p.Ala132=)
c.776C= (p.Ala259=)
2g.48688766G>TCA346750068GTF2A1L,LHCGR,STON1-GTF2A1Lc.1031C>A (p.Ala344Asp)
c.948-627C>A (n.948-627C>A)
c.3441+17086G>T (n.3441+17086G>T)
c.948-183C>A (n.948-183C>A)
c.950C>A (p.Ala317Asp)
c.276+17086G>T (n.276+17086G>T)
c.*220+5458C>A (n.*220+5458C>A)
c.74C>A (p.Ala25Asp)
c.101C>A (p.Ala34Asp)
c.956C>A (p.Ala319Asp)
c.770C>A (p.Ala257Asp)
c.689C>A (p.Ala230Asp)
c.395C>A (p.Ala132Asp)
c.776C>A (p.Ala259Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688767C>ACA346750071GTF2A1L,LHCGR,STON1-GTF2A1Lc.1030G>T (p.Ala344Ser)
c.948-628G>T (n.948-628G>T)
c.3441+17087C>A (n.3441+17087C>A)
c.948-184G>T (n.948-184G>T)
c.949G>T (p.Ala317Ser)
c.276+17087C>A (n.276+17087C>A)
c.*220+5457G>T (n.*220+5457G>T)
c.73G>T (p.Ala25Ser)
c.100G>T (p.Ala34Ser)
c.955G>T (p.Ala319Ser)
c.769G>T (p.Ala257Ser)
c.688G>T (p.Ala230Ser)
c.394G>T (p.Ala132Ser)
c.775G>T (p.Ala259Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.48688767C=CA1248601261GTF2A1L,LHCGR,STON1-GTF2A1Lc.1030G= (p.Ala344=)
c.948-628G= (n.948-628G=)
c.3441+17087C= (n.3441+17087C=)
c.948-184G= (n.948-184G=)
c.949G= (p.Ala317=)
c.276+17087C= (n.276+17087C=)
c.*220+5457G= (n.*220+5457G=)
c.73G= (p.Ala25=)
c.100G= (p.Ala34=)
c.955G= (p.Ala319=)
c.769G= (p.Ala257=)
c.688G= (p.Ala230=)
c.394G= (p.Ala132=)
c.775G= (p.Ala259=)
2g.48688767C>GCA346750072GTF2A1L,LHCGR,STON1-GTF2A1Lc.1030G>C (p.Ala344Pro)
c.948-628G>C (n.948-628G>C)
c.3441+17087C>G (n.3441+17087C>G)
c.948-184G>C (n.948-184G>C)
c.949G>C (p.Ala317Pro)
c.276+17087C>G (n.276+17087C>G)
c.*220+5457G>C (n.*220+5457G>C)
c.73G>C (p.Ala25Pro)
c.100G>C (p.Ala34Pro)
c.955G>C (p.Ala319Pro)
c.769G>C (p.Ala257Pro)
c.688G>C (p.Ala230Pro)
c.394G>C (p.Ala132Pro)
c.775G>C (p.Ala259Pro)
 COSMIC
2g.48688767C>TCA346750075GTF2A1L,LHCGR,STON1-GTF2A1Lc.1030G>A (p.Ala344Thr)
c.948-628G>A (n.948-628G>A)
c.3441+17087C>T (n.3441+17087C>T)
c.948-184G>A (n.948-184G>A)
c.949G>A (p.Ala317Thr)
c.276+17087C>T (n.276+17087C>T)
c.*220+5457G>A (n.*220+5457G>A)
c.73G>A (p.Ala25Thr)
c.100G>A (p.Ala34Thr)
c.955G>A (p.Ala319Thr)
c.769G>A (p.Ala257Thr)
c.688G>A (p.Ala230Thr)
c.394G>A (p.Ala132Thr)
c.775G>A (p.Ala259Thr)
2g.48688768A>CCA346750077GTF2A1L,LHCGR,STON1-GTF2A1Lc.1029T>G (p.Cys343Trp)
c.948-629T>G (n.948-629T>G)
c.3441+17088A>C (n.3441+17088A>C)
c.948-185T>G (n.948-185T>G)
c.948T>G (p.Cys316Trp)
c.276+17088A>C (n.276+17088A>C)
c.*220+5456T>G (n.*220+5456T>G)
c.72T>G (p.Cys24Trp)
c.99T>G (p.Cys33Trp)
c.954T>G (p.Cys318Trp)
c.768T>G (p.Cys256Trp)
c.687T>G (p.Cys229Trp)
c.393T>G (p.Cys131Trp)
c.774T>G (p.Cys258Trp)
2g.48688768A>GCA426124812GTF2A1L,LHCGR,STON1-GTF2A1Lc.1029T>C (p.Cys343=)
c.948-629T>C (n.948-629T>C)
c.3441+17088A>G (n.3441+17088A>G)
c.948-185T>C (n.948-185T>C)
c.948T>C (p.Cys316=)
c.276+17088A>G (n.276+17088A>G)
c.*220+5456T>C (n.*220+5456T>C)
c.72T>C (p.Cys24=)
c.99T>C (p.Cys33=)
c.954T>C (p.Cys318=)
c.768T>C (p.Cys256=)
c.687T>C (p.Cys229=)
c.393T>C (p.Cys131=)
c.774T>C (p.Cys258=)
 gnomAD v4
2g.48688768A>TCA346750078GTF2A1L,LHCGR,STON1-GTF2A1Lc.1029T>A (p.Cys343Ter)
c.948-629T>A (n.948-629T>A)
c.3441+17088A>T (n.3441+17088A>T)
c.948-185T>A (n.948-185T>A)
c.948T>A (p.Cys316Ter)
c.276+17088A>T (n.276+17088A>T)
c.*220+5456T>A (n.*220+5456T>A)
c.72T>A (p.Cys24Ter)
c.99T>A (p.Cys33Ter)
c.954T>A (p.Cys318Ter)
c.768T>A (p.Cys256Ter)
c.687T>A (p.Cys229Ter)
c.393T>A (p.Cys131Ter)
c.774T>A (p.Cys258Ter)
2g.48688769C>ACA346750089GTF2A1L,LHCGR,STON1-GTF2A1Lc.1028G>T (p.Cys343Phe)
c.948-630G>T (n.948-630G>T)
c.3441+17089C>A (n.3441+17089C>A)
c.948-186G>T (n.948-186G>T)
c.947G>T (p.Cys316Phe)
c.276+17089C>A (n.276+17089C>A)
c.*220+5455G>T (n.*220+5455G>T)
c.71G>T (p.Cys24Phe)
c.98G>T (p.Cys33Phe)
c.953G>T (p.Cys318Phe)
c.767G>T (p.Cys256Phe)
c.686G>T (p.Cys229Phe)
c.392G>T (p.Cys131Phe)
c.773G>T (p.Cys258Phe)
2g.48688769C>GCA346750087GTF2A1L,LHCGR,STON1-GTF2A1Lc.1028G>C (p.Cys343Ser)
c.948-630G>C (n.948-630G>C)
c.3441+17089C>G (n.3441+17089C>G)
c.948-186G>C (n.948-186G>C)
c.947G>C (p.Cys316Ser)
c.276+17089C>G (n.276+17089C>G)
c.*220+5455G>C (n.*220+5455G>C)
c.71G>C (p.Cys24Ser)
c.98G>C (p.Cys33Ser)
c.953G>C (p.Cys318Ser)
c.767G>C (p.Cys256Ser)
c.686G>C (p.Cys229Ser)
c.392G>C (p.Cys131Ser)
c.773G>C (p.Cys258Ser)
2g.48688769C>TCA346750083GTF2A1L,LHCGR,STON1-GTF2A1Lc.1028G>A (p.Cys343Tyr)
c.948-630G>A (n.948-630G>A)
c.3441+17089C>T (n.3441+17089C>T)
c.948-186G>A (n.948-186G>A)
c.947G>A (p.Cys316Tyr)
c.276+17089C>T (n.276+17089C>T)
c.*220+5455G>A (n.*220+5455G>A)
c.71G>A (p.Cys24Tyr)
c.98G>A (p.Cys33Tyr)
c.953G>A (p.Cys318Tyr)
c.767G>A (p.Cys256Tyr)
c.686G>A (p.Cys229Tyr)
c.392G>A (p.Cys131Tyr)
c.773G>A (p.Cys258Tyr)
 gnomAD v4
2g.48688770A=CA1248601262GTF2A1L,LHCGR,STON1-GTF2A1Lc.1027T= (p.Cys343=)
c.948-631T= (n.948-631T=)
c.3441+17090A= (n.3441+17090A=)
c.948-187T= (n.948-187T=)
c.946T= (p.Cys316=)
c.276+17090A= (n.276+17090A=)
c.*220+5454T= (n.*220+5454T=)
c.70T= (p.Cys24=)
c.97T= (p.Cys33=)
c.952T= (p.Cys318=)
c.766T= (p.Cys256=)
c.685T= (p.Cys229=)
c.391T= (p.Cys131=)
c.772T= (p.Cys258=)
2g.48688770A>CCA346750091GTF2A1L,LHCGR,STON1-GTF2A1Lc.1027T>G (p.Cys343Gly)
c.948-631T>G (n.948-631T>G)
c.3441+17090A>C (n.3441+17090A>C)
c.948-187T>G (n.948-187T>G)
c.946T>G (p.Cys316Gly)
c.276+17090A>C (n.276+17090A>C)
c.*220+5454T>G (n.*220+5454T>G)
c.70T>G (p.Cys24Gly)
c.97T>G (p.Cys33Gly)
c.952T>G (p.Cys318Gly)
c.766T>G (p.Cys256Gly)
c.685T>G (p.Cys229Gly)
c.391T>G (p.Cys131Gly)
c.772T>G (p.Cys258Gly)
2g.48688770A>GCA346750095GTF2A1L,LHCGR,STON1-GTF2A1Lc.1027T>C (p.Cys343Arg)
c.948-631T>C (n.948-631T>C)
c.3441+17090A>G (n.3441+17090A>G)
c.948-187T>C (n.948-187T>C)
c.946T>C (p.Cys316Arg)
c.276+17090A>G (n.276+17090A>G)
c.*220+5454T>C (n.*220+5454T>C)
c.70T>C (p.Cys24Arg)
c.97T>C (p.Cys33Arg)
c.952T>C (p.Cys318Arg)
c.766T>C (p.Cys256Arg)
c.685T>C (p.Cys229Arg)
c.391T>C (p.Cys131Arg)
c.772T>C (p.Cys258Arg)
2g.48688770A>TCA250649GTF2A1L,LHCGR,STON1-GTF2A1Lc.1027T>A (p.Cys343Ser)
c.948-631T>A (n.948-631T>A)
c.3441+17090A>T (n.3441+17090A>T)
c.948-187T>A (n.948-187T>A)
c.946T>A (p.Cys316Ser)
c.276+17090A>T (n.276+17090A>T)
c.*220+5454T>A (n.*220+5454T>A)
c.70T>A (p.Cys24Ser)
c.97T>A (p.Cys33Ser)
c.952T>A (p.Cys318Ser)
c.766T>A (p.Cys256Ser)
c.685T>A (p.Cys229Ser)
c.391T>A (p.Cys131Ser)
c.772T>A (p.Cys258Ser)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.48688771T>ACA426124839GTF2A1L,LHCGR,STON1-GTF2A1Lc.1026A>T (p.Arg342=)
c.948-632A>T (n.948-632A>T)
c.3441+17091T>A (n.3441+17091T>A)
c.948-188A>T (n.948-188A>T)
c.945A>T (p.Arg315=)
c.276+17091T>A (n.276+17091T>A)
c.*220+5453A>T (n.*220+5453A>T)
c.69A>T (p.Arg23=)
c.96A>T (p.Arg32=)
c.951A>T (p.Arg317=)
c.765A>T (p.Arg255=)
c.684A>T (p.Arg228=)
c.390A>T (p.Arg130=)
c.771A>T (p.Arg257=)
2g.48688771T>CCA426124840GTF2A1L,LHCGR,STON1-GTF2A1Lc.1026A>G (p.Arg342=)
c.948-632A>G (n.948-632A>G)
c.3441+17091T>C (n.3441+17091T>C)
c.948-188A>G (n.948-188A>G)
c.945A>G (p.Arg315=)
c.276+17091T>C (n.276+17091T>C)
c.*220+5453A>G (n.*220+5453A>G)
c.69A>G (p.Arg23=)
c.96A>G (p.Arg32=)
c.951A>G (p.Arg317=)
c.765A>G (p.Arg255=)
c.684A>G (p.Arg228=)
c.390A>G (p.Arg130=)
c.771A>G (p.Arg257=)
2g.48688771T>GCA426124841GTF2A1L,LHCGR,STON1-GTF2A1Lc.1026A>C (p.Arg342=)
c.948-632A>C (n.948-632A>C)
c.3441+17091T>G (n.3441+17091T>G)
c.948-188A>C (n.948-188A>C)
c.945A>C (p.Arg315=)
c.276+17091T>G (n.276+17091T>G)
c.*220+5453A>C (n.*220+5453A>C)
c.69A>C (p.Arg23=)
c.96A>C (p.Arg32=)
c.951A>C (p.Arg317=)
c.765A>C (p.Arg255=)
c.684A>C (p.Arg228=)
c.390A>C (p.Arg130=)
c.771A>C (p.Arg257=)
2g.48688772C>ACA346750099GTF2A1L,LHCGR,STON1-GTF2A1Lc.1025G>T (p.Arg342Leu)
c.948-633G>T (n.948-633G>T)
c.3441+17092C>A (n.3441+17092C>A)
c.948-189G>T (n.948-189G>T)
c.944G>T (p.Arg315Leu)
c.276+17092C>A (n.276+17092C>A)
c.*220+5452G>T (n.*220+5452G>T)
c.68G>T (p.Arg23Leu)
c.95G>T (p.Arg32Leu)
c.950G>T (p.Arg317Leu)
c.764G>T (p.Arg255Leu)
c.683G>T (p.Arg228Leu)
c.389G>T (p.Arg130Leu)
c.770G>T (p.Arg257Leu)
 gnomAD v4
2g.48688772C=CA1248601263GTF2A1L,LHCGR,STON1-GTF2A1Lc.1025G= (p.Arg342=)
c.948-633G= (n.948-633G=)
c.3441+17092C= (n.3441+17092C=)
c.948-189G= (n.948-189G=)
c.944G= (p.Arg315=)
c.276+17092C= (n.276+17092C=)
c.*220+5452G= (n.*220+5452G=)
c.68G= (p.Arg23=)
c.95G= (p.Arg32=)
c.950G= (p.Arg317=)
c.764G= (p.Arg255=)
c.683G= (p.Arg228=)
c.389G= (p.Arg130=)
c.770G= (p.Arg257=)
2g.48688772C>GCA346750102GTF2A1L,LHCGR,STON1-GTF2A1Lc.1025G>C (p.Arg342Pro)
c.948-633G>C (n.948-633G>C)
c.3441+17092C>G (n.3441+17092C>G)
c.948-189G>C (n.948-189G>C)
c.944G>C (p.Arg315Pro)
c.276+17092C>G (n.276+17092C>G)
c.*220+5452G>C (n.*220+5452G>C)
c.68G>C (p.Arg23Pro)
c.95G>C (p.Arg32Pro)
c.950G>C (p.Arg317Pro)
c.764G>C (p.Arg255Pro)
c.683G>C (p.Arg228Pro)
c.389G>C (p.Arg130Pro)
c.770G>C (p.Arg257Pro)
2g.48688772C>TCA1653093GTF2A1L,LHCGR,STON1-GTF2A1Lc.1025G>A (p.Arg342Gln)
c.948-633G>A (n.948-633G>A)
c.3441+17092C>T (n.3441+17092C>T)
c.948-189G>A (n.948-189G>A)
c.944G>A (p.Arg315Gln)
c.276+17092C>T (n.276+17092C>T)
c.*220+5452G>A (n.*220+5452G>A)
c.68G>A (p.Arg23Gln)
c.95G>A (p.Arg32Gln)
c.950G>A (p.Arg317Gln)
c.764G>A (p.Arg255Gln)
c.683G>A (p.Arg228Gln)
c.389G>A (p.Arg130Gln)
c.770G>A (p.Arg257Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688773G>ACA1653094GTF2A1L,LHCGR,STON1-GTF2A1Lc.1024C>T (p.Arg342Ter)
c.948-634C>T (n.948-634C>T)
c.3441+17093G>A (n.3441+17093G>A)
c.948-190C>T (n.948-190C>T)
c.943C>T (p.Arg315Ter)
c.276+17093G>A (n.276+17093G>A)
c.*220+5451C>T (n.*220+5451C>T)
c.67C>T (p.Arg23Ter)
c.94C>T (p.Arg32Ter)
c.949C>T (p.Arg317Ter)
c.763C>T (p.Arg255Ter)
c.682C>T (p.Arg228Ter)
c.388C>T (p.Arg130Ter)
c.769C>T (p.Arg257Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688773G>CCA346750122GTF2A1L,LHCGR,STON1-GTF2A1Lc.1024C>G (p.Arg342Gly)
c.948-634C>G (n.948-634C>G)
c.3441+17093G>C (n.3441+17093G>C)
c.948-190C>G (n.948-190C>G)
c.943C>G (p.Arg315Gly)
c.276+17093G>C (n.276+17093G>C)
c.*220+5451C>G (n.*220+5451C>G)
c.67C>G (p.Arg23Gly)
c.94C>G (p.Arg32Gly)
c.949C>G (p.Arg317Gly)
c.763C>G (p.Arg255Gly)
c.682C>G (p.Arg228Gly)
c.388C>G (p.Arg130Gly)
c.769C>G (p.Arg257Gly)
2g.48688773G=CA1248601264GTF2A1L,LHCGR,STON1-GTF2A1Lc.1024C= (p.Arg342=)
c.948-634C= (n.948-634C=)
c.3441+17093G= (n.3441+17093G=)
c.948-190C= (n.948-190C=)
c.943C= (p.Arg315=)
c.276+17093G= (n.276+17093G=)
c.*220+5451C= (n.*220+5451C=)
c.67C= (p.Arg23=)
c.94C= (p.Arg32=)
c.949C= (p.Arg317=)
c.763C= (p.Arg255=)
c.682C= (p.Arg228=)
c.388C= (p.Arg130=)
c.769C= (p.Arg257=)
2g.48688773G>TCA426124842GTF2A1L,LHCGR,STON1-GTF2A1Lc.1024C>A (p.Arg342=)
c.948-634C>A (n.948-634C>A)
c.3441+17093G>T (n.3441+17093G>T)
c.948-190C>A (n.948-190C>A)
c.943C>A (p.Arg315=)
c.276+17093G>T (n.276+17093G>T)
c.*220+5451C>A (n.*220+5451C>A)
c.67C>A (p.Arg23=)
c.94C>A (p.Arg32=)
c.949C>A (p.Arg317=)
c.763C>A (p.Arg255=)
c.682C>A (p.Arg228=)
c.388C>A (p.Arg130=)
c.769C>A (p.Arg257=)
2g.48688776delCA2658992090GTF2A1L,LHCGR,STON1-GTF2A1Lc.1024del (p.Arg342AspfsTer24)
c.948-634del (n.948-634del)
c.3441+17096del (n.3441+17096del)
c.948-190del (n.948-190del)
c.943del (p.Arg315AspfsTer24)
c.276+17096del (n.276+17096del)
c.*220+5451del (n.*220+5451del)
c.67del (p.Arg23AspfsTer24)
c.94del (p.Arg32AspfsTer24)
c.949del (p.Arg317AspfsTer24)
c.763del (p.Arg255AspfsTer24)
c.682del (p.Arg228AspfsTer24)
c.388del (p.Arg130AspfsTer24)
c.769del (p.Arg257AspfsTer24)
 gnomAD v4

Number of alleles fetched