Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48687793A>CCA426125042GTF2A1L,LHCGR,STON1-GTF2A1Lc.2004T>G (p.Thr668=)
c.*316T>G (n.*316T>G)
c.3441+16113A>C (n.3441+16113A>C)
c.*748T>G (n.*748T>G)
c.1923T>G (p.Thr641=)
c.276+16113A>C (n.276+16113A>C)
c.*220+6431T>G (n.*220+6431T>G)
c.1047T>G (p.Thr349=)
c.1074T>G (p.Thr358=)
c.1929T>G (p.Thr643=)
c.1743T>G (p.Thr581=)
c.1662T>G (p.Thr554=)
c.1368T>G (p.Thr456=)
c.1749T>G (p.Thr583=)
2g.48687793A>GCA426125043GTF2A1L,LHCGR,STON1-GTF2A1Lc.2004T>C (p.Thr668=)
c.*316T>C (n.*316T>C)
c.3441+16113A>G (n.3441+16113A>G)
c.*748T>C (n.*748T>C)
c.1923T>C (p.Thr641=)
c.276+16113A>G (n.276+16113A>G)
c.*220+6431T>C (n.*220+6431T>C)
c.1047T>C (p.Thr349=)
c.1074T>C (p.Thr358=)
c.1929T>C (p.Thr643=)
c.1743T>C (p.Thr581=)
c.1662T>C (p.Thr554=)
c.1368T>C (p.Thr456=)
c.1749T>C (p.Thr583=)
 gnomAD v4
2g.48687793A>TCA426125045GTF2A1L,LHCGR,STON1-GTF2A1Lc.2004T>A (p.Thr668=)
c.*316T>A (n.*316T>A)
c.3441+16113A>T (n.3441+16113A>T)
c.*748T>A (n.*748T>A)
c.1923T>A (p.Thr641=)
c.276+16113A>T (n.276+16113A>T)
c.*220+6431T>A (n.*220+6431T>A)
c.1047T>A (p.Thr349=)
c.1074T>A (p.Thr358=)
c.1929T>A (p.Thr643=)
c.1743T>A (p.Thr581=)
c.1662T>A (p.Thr554=)
c.1368T>A (p.Thr456=)
c.1749T>A (p.Thr583=)
2g.48687794G>ACA346743274GTF2A1L,LHCGR,STON1-GTF2A1Lc.2003C>T (p.Thr668Ile)
c.*315C>T (n.*315C>T)
c.3441+16114G>A (n.3441+16114G>A)
c.*747C>T (n.*747C>T)
c.1922C>T (p.Thr641Ile)
c.276+16114G>A (n.276+16114G>A)
c.*220+6430C>T (n.*220+6430C>T)
c.1046C>T (p.Thr349Ile)
c.1073C>T (p.Thr358Ile)
c.1928C>T (p.Thr643Ile)
c.1742C>T (p.Thr581Ile)
c.1661C>T (p.Thr554Ile)
c.1367C>T (p.Thr456Ile)
c.1748C>T (p.Thr583Ile)
 gnomAD v4
2g.48687794G>CCA346743277GTF2A1L,LHCGR,STON1-GTF2A1Lc.2003C>G (p.Thr668Ser)
c.*315C>G (n.*315C>G)
c.3441+16114G>C (n.3441+16114G>C)
c.*747C>G (n.*747C>G)
c.1922C>G (p.Thr641Ser)
c.276+16114G>C (n.276+16114G>C)
c.*220+6430C>G (n.*220+6430C>G)
c.1046C>G (p.Thr349Ser)
c.1073C>G (p.Thr358Ser)
c.1928C>G (p.Thr643Ser)
c.1742C>G (p.Thr581Ser)
c.1661C>G (p.Thr554Ser)
c.1367C>G (p.Thr456Ser)
c.1748C>G (p.Thr583Ser)
2g.48687794G>TCA346743281GTF2A1L,LHCGR,STON1-GTF2A1Lc.2003C>A (p.Thr668Asn)
c.*315C>A (n.*315C>A)
c.3441+16114G>T (n.3441+16114G>T)
c.*747C>A (n.*747C>A)
c.1922C>A (p.Thr641Asn)
c.276+16114G>T (n.276+16114G>T)
c.*220+6430C>A (n.*220+6430C>A)
c.1046C>A (p.Thr349Asn)
c.1073C>A (p.Thr358Asn)
c.1928C>A (p.Thr643Asn)
c.1742C>A (p.Thr581Asn)
c.1661C>A (p.Thr554Asn)
c.1367C>A (p.Thr456Asn)
c.1748C>A (p.Thr583Asn)
2g.48687795T>ACA346743287GTF2A1L,LHCGR,STON1-GTF2A1Lc.2002A>T (p.Thr668Ser)
c.*314A>T (n.*314A>T)
c.3441+16115T>A (n.3441+16115T>A)
c.*746A>T (n.*746A>T)
c.1921A>T (p.Thr641Ser)
c.276+16115T>A (n.276+16115T>A)
c.*220+6429A>T (n.*220+6429A>T)
c.1045A>T (p.Thr349Ser)
c.1072A>T (p.Thr358Ser)
c.1927A>T (p.Thr643Ser)
c.1741A>T (p.Thr581Ser)
c.1660A>T (p.Thr554Ser)
c.1366A>T (p.Thr456Ser)
c.1747A>T (p.Thr583Ser)
2g.48687795T>CCA346743289GTF2A1L,LHCGR,STON1-GTF2A1Lc.2002A>G (p.Thr668Ala)
c.*314A>G (n.*314A>G)
c.3441+16115T>C (n.3441+16115T>C)
c.*746A>G (n.*746A>G)
c.1921A>G (p.Thr641Ala)
c.276+16115T>C (n.276+16115T>C)
c.*220+6429A>G (n.*220+6429A>G)
c.1045A>G (p.Thr349Ala)
c.1072A>G (p.Thr358Ala)
c.1927A>G (p.Thr643Ala)
c.1741A>G (p.Thr581Ala)
c.1660A>G (p.Thr554Ala)
c.1366A>G (p.Thr456Ala)
c.1747A>G (p.Thr583Ala)
 gnomAD v4
2g.48687795T>GCA1652950GTF2A1L,LHCGR,STON1-GTF2A1Lc.2002A>C (p.Thr668Pro)
c.*314A>C (n.*314A>C)
c.3441+16115T>G (n.3441+16115T>G)
c.*746A>C (n.*746A>C)
c.1921A>C (p.Thr641Pro)
c.276+16115T>G (n.276+16115T>G)
c.*220+6429A>C (n.*220+6429A>C)
c.1045A>C (p.Thr349Pro)
c.1072A>C (p.Thr358Pro)
c.1927A>C (p.Thr643Pro)
c.1741A>C (p.Thr581Pro)
c.1660A>C (p.Thr554Pro)
c.1366A>C (p.Thr456Pro)
c.1747A>C (p.Thr583Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687795T=CA1248600843GTF2A1L,LHCGR,STON1-GTF2A1Lc.2002A= (p.Thr668=)
c.*314A= (n.*314A=)
c.3441+16115T= (n.3441+16115T=)
c.*746A= (n.*746A=)
c.1921A= (p.Thr641=)
c.276+16115T= (n.276+16115T=)
c.*220+6429A= (n.*220+6429A=)
c.1045A= (p.Thr349=)
c.1072A= (p.Thr358=)
c.1927A= (p.Thr643=)
c.1741A= (p.Thr581=)
c.1660A= (p.Thr554=)
c.1366A= (p.Thr456=)
c.1747A= (p.Thr583=)
2g.48687796G>ACA426125049GTF2A1L,LHCGR,STON1-GTF2A1Lc.2001C>T (p.Phe667=)
c.*313C>T (n.*313C>T)
c.3441+16116G>A (n.3441+16116G>A)
c.*745C>T (n.*745C>T)
c.1920C>T (p.Phe640=)
c.276+16116G>A (n.276+16116G>A)
c.*220+6428C>T (n.*220+6428C>T)
c.1044C>T (p.Phe348=)
c.1071C>T (p.Phe357=)
c.1926C>T (p.Phe642=)
c.1740C>T (p.Phe580=)
c.1659C>T (p.Phe553=)
c.1365C>T (p.Phe455=)
c.1746C>T (p.Phe582=)
 dbSNP gnomAD v2 gnomAD v4
2g.48687796G>CCA346743296GTF2A1L,LHCGR,STON1-GTF2A1Lc.2001C>G (p.Phe667Leu)
c.*313C>G (n.*313C>G)
c.3441+16116G>C (n.3441+16116G>C)
c.*745C>G (n.*745C>G)
c.1920C>G (p.Phe640Leu)
c.276+16116G>C (n.276+16116G>C)
c.*220+6428C>G (n.*220+6428C>G)
c.1044C>G (p.Phe348Leu)
c.1071C>G (p.Phe357Leu)
c.1926C>G (p.Phe642Leu)
c.1740C>G (p.Phe580Leu)
c.1659C>G (p.Phe553Leu)
c.1365C>G (p.Phe455Leu)
c.1746C>G (p.Phe582Leu)
2g.48687796G=CA1248600844GTF2A1L,LHCGR,STON1-GTF2A1Lc.2001C= (p.Phe667=)
c.*313C= (n.*313C=)
c.3441+16116G= (n.3441+16116G=)
c.*745C= (n.*745C=)
c.1920C= (p.Phe640=)
c.276+16116G= (n.276+16116G=)
c.*220+6428C= (n.*220+6428C=)
c.1044C= (p.Phe348=)
c.1071C= (p.Phe357=)
c.1926C= (p.Phe642=)
c.1740C= (p.Phe580=)
c.1659C= (p.Phe553=)
c.1365C= (p.Phe455=)
c.1746C= (p.Phe582=)
2g.48687796G>TCA346743299GTF2A1L,LHCGR,STON1-GTF2A1Lc.2001C>A (p.Phe667Leu)
c.*313C>A (n.*313C>A)
c.3441+16116G>T (n.3441+16116G>T)
c.*745C>A (n.*745C>A)
c.1920C>A (p.Phe640Leu)
c.276+16116G>T (n.276+16116G>T)
c.*220+6428C>A (n.*220+6428C>A)
c.1044C>A (p.Phe348Leu)
c.1071C>A (p.Phe357Leu)
c.1926C>A (p.Phe642Leu)
c.1740C>A (p.Phe580Leu)
c.1659C>A (p.Phe553Leu)
c.1365C>A (p.Phe455Leu)
c.1746C>A (p.Phe582Leu)
2g.48687797A>CCA346743302GTF2A1L,LHCGR,STON1-GTF2A1Lc.2000T>G (p.Phe667Cys)
c.*312T>G (n.*312T>G)
c.3441+16117A>C (n.3441+16117A>C)
c.*744T>G (n.*744T>G)
c.1919T>G (p.Phe640Cys)
c.276+16117A>C (n.276+16117A>C)
c.*220+6427T>G (n.*220+6427T>G)
c.1043T>G (p.Phe348Cys)
c.1070T>G (p.Phe357Cys)
c.1925T>G (p.Phe642Cys)
c.1739T>G (p.Phe580Cys)
c.1658T>G (p.Phe553Cys)
c.1364T>G (p.Phe455Cys)
c.1745T>G (p.Phe582Cys)
2g.48687797A>GCA346743303GTF2A1L,LHCGR,STON1-GTF2A1Lc.2000T>C (p.Phe667Ser)
c.*312T>C (n.*312T>C)
c.3441+16117A>G (n.3441+16117A>G)
c.*744T>C (n.*744T>C)
c.1919T>C (p.Phe640Ser)
c.276+16117A>G (n.276+16117A>G)
c.*220+6427T>C (n.*220+6427T>C)
c.1043T>C (p.Phe348Ser)
c.1070T>C (p.Phe357Ser)
c.1925T>C (p.Phe642Ser)
c.1739T>C (p.Phe580Ser)
c.1658T>C (p.Phe553Ser)
c.1364T>C (p.Phe455Ser)
c.1745T>C (p.Phe582Ser)
2g.48687797A>TCA346743300GTF2A1L,LHCGR,STON1-GTF2A1Lc.2000T>A (p.Phe667Tyr)
c.*312T>A (n.*312T>A)
c.3441+16117A>T (n.3441+16117A>T)
c.*744T>A (n.*744T>A)
c.1919T>A (p.Phe640Tyr)
c.276+16117A>T (n.276+16117A>T)
c.*220+6427T>A (n.*220+6427T>A)
c.1043T>A (p.Phe348Tyr)
c.1070T>A (p.Phe357Tyr)
c.1925T>A (p.Phe642Tyr)
c.1739T>A (p.Phe580Tyr)
c.1658T>A (p.Phe553Tyr)
c.1364T>A (p.Phe455Tyr)
c.1745T>A (p.Phe582Tyr)
2g.48687798A=CA1248600845GTF2A1L,LHCGR,STON1-GTF2A1Lc.1999T= (p.Phe667=)
c.*311T= (n.*311T=)
c.3441+16118A= (n.3441+16118A=)
c.*743T= (n.*743T=)
c.1918T= (p.Phe640=)
c.276+16118A= (n.276+16118A=)
c.*220+6426T= (n.*220+6426T=)
c.1042T= (p.Phe348=)
c.1069T= (p.Phe357=)
c.1924T= (p.Phe642=)
c.1738T= (p.Phe580=)
c.1657T= (p.Phe553=)
c.1363T= (p.Phe455=)
c.1744T= (p.Phe582=)
2g.48687798A>CCA346743305GTF2A1L,LHCGR,STON1-GTF2A1Lc.1999T>G (p.Phe667Val)
c.*311T>G (n.*311T>G)
c.3441+16118A>C (n.3441+16118A>C)
c.*743T>G (n.*743T>G)
c.1918T>G (p.Phe640Val)
c.276+16118A>C (n.276+16118A>C)
c.*220+6426T>G (n.*220+6426T>G)
c.1042T>G (p.Phe348Val)
c.1069T>G (p.Phe357Val)
c.1924T>G (p.Phe642Val)
c.1738T>G (p.Phe580Val)
c.1657T>G (p.Phe553Val)
c.1363T>G (p.Phe455Val)
c.1744T>G (p.Phe582Val)
2g.48687798A>GCA1652951GTF2A1L,LHCGR,STON1-GTF2A1Lc.1999T>C (p.Phe667Leu)
c.*311T>C (n.*311T>C)
c.3441+16118A>G (n.3441+16118A>G)
c.*743T>C (n.*743T>C)
c.1918T>C (p.Phe640Leu)
c.276+16118A>G (n.276+16118A>G)
c.*220+6426T>C (n.*220+6426T>C)
c.1042T>C (p.Phe348Leu)
c.1069T>C (p.Phe357Leu)
c.1924T>C (p.Phe642Leu)
c.1738T>C (p.Phe580Leu)
c.1657T>C (p.Phe553Leu)
c.1363T>C (p.Phe455Leu)
c.1744T>C (p.Phe582Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687798A>TCA346743309GTF2A1L,LHCGR,STON1-GTF2A1Lc.1999T>A (p.Phe667Ile)
c.*311T>A (n.*311T>A)
c.3441+16118A>T (n.3441+16118A>T)
c.*743T>A (n.*743T>A)
c.1918T>A (p.Phe640Ile)
c.276+16118A>T (n.276+16118A>T)
c.*220+6426T>A (n.*220+6426T>A)
c.1042T>A (p.Phe348Ile)
c.1069T>A (p.Phe357Ile)
c.1924T>A (p.Phe642Ile)
c.1738T>A (p.Phe580Ile)
c.1657T>A (p.Phe553Ile)
c.1363T>A (p.Phe455Ile)
c.1744T>A (p.Phe582Ile)
2g.48687799G>ACA426125055GTF2A1L,LHCGR,STON1-GTF2A1Lc.1998C>T (p.Gly666=)
c.*310C>T (n.*310C>T)
c.3441+16119G>A (n.3441+16119G>A)
c.*742C>T (n.*742C>T)
c.1917C>T (p.Gly639=)
c.276+16119G>A (n.276+16119G>A)
c.*220+6425C>T (n.*220+6425C>T)
c.1041C>T (p.Gly347=)
c.1068C>T (p.Gly356=)
c.1923C>T (p.Gly641=)
c.1737C>T (p.Gly579=)
c.1656C>T (p.Gly552=)
c.1362C>T (p.Gly454=)
c.1743C>T (p.Gly581=)
 dbSNP
2g.48687799G>CCA426125056GTF2A1L,LHCGR,STON1-GTF2A1Lc.1998C>G (p.Gly666=)
c.*310C>G (n.*310C>G)
c.3441+16119G>C (n.3441+16119G>C)
c.*742C>G (n.*742C>G)
c.1917C>G (p.Gly639=)
c.276+16119G>C (n.276+16119G>C)
c.*220+6425C>G (n.*220+6425C>G)
c.1041C>G (p.Gly347=)
c.1068C>G (p.Gly356=)
c.1923C>G (p.Gly641=)
c.1737C>G (p.Gly579=)
c.1656C>G (p.Gly552=)
c.1362C>G (p.Gly454=)
c.1743C>G (p.Gly581=)
2g.48687799G=CA1248600846GTF2A1L,LHCGR,STON1-GTF2A1Lc.1998C= (p.Gly666=)
c.*310C= (n.*310C=)
c.3441+16119G= (n.3441+16119G=)
c.*742C= (n.*742C=)
c.1917C= (p.Gly639=)
c.276+16119G= (n.276+16119G=)
c.*220+6425C= (n.*220+6425C=)
c.1041C= (p.Gly347=)
c.1068C= (p.Gly356=)
c.1923C= (p.Gly641=)
c.1737C= (p.Gly579=)
c.1656C= (p.Gly552=)
c.1362C= (p.Gly454=)
c.1743C= (p.Gly581=)
2g.48687799G>TCA426125057GTF2A1L,LHCGR,STON1-GTF2A1Lc.1998C>A (p.Gly666=)
c.*310C>A (n.*310C>A)
c.3441+16119G>T (n.3441+16119G>T)
c.*742C>A (n.*742C>A)
c.1917C>A (p.Gly639=)
c.276+16119G>T (n.276+16119G>T)
c.*220+6425C>A (n.*220+6425C>A)
c.1041C>A (p.Gly347=)
c.1068C>A (p.Gly356=)
c.1923C>A (p.Gly641=)
c.1737C>A (p.Gly579=)
c.1656C>A (p.Gly552=)
c.1362C>A (p.Gly454=)
c.1743C>A (p.Gly581=)
2g.48687800C>ACA346743317GTF2A1L,LHCGR,STON1-GTF2A1Lc.1997G>T (p.Gly666Val)
c.*309G>T (n.*309G>T)
c.3441+16120C>A (n.3441+16120C>A)
c.*741G>T (n.*741G>T)
c.1916G>T (p.Gly639Val)
c.276+16120C>A (n.276+16120C>A)
c.*220+6424G>T (n.*220+6424G>T)
c.1040G>T (p.Gly347Val)
c.1067G>T (p.Gly356Val)
c.1922G>T (p.Gly641Val)
c.1736G>T (p.Gly579Val)
c.1655G>T (p.Gly552Val)
c.1361G>T (p.Gly454Val)
c.1742G>T (p.Gly581Val)
 dbSNP gnomAD v4
2g.48687800C=CA1248600847GTF2A1L,LHCGR,STON1-GTF2A1Lc.1997G= (p.Gly666=)
c.*309G= (n.*309G=)
c.3441+16120C= (n.3441+16120C=)
c.*741G= (n.*741G=)
c.1916G= (p.Gly639=)
c.276+16120C= (n.276+16120C=)
c.*220+6424G= (n.*220+6424G=)
c.1040G= (p.Gly347=)
c.1067G= (p.Gly356=)
c.1922G= (p.Gly641=)
c.1736G= (p.Gly579=)
c.1655G= (p.Gly552=)
c.1361G= (p.Gly454=)
c.1742G= (p.Gly581=)
2g.48687800C>GCA1652952GTF2A1L,LHCGR,STON1-GTF2A1Lc.1997G>C (p.Gly666Ala)
c.*309G>C (n.*309G>C)
c.3441+16120C>G (n.3441+16120C>G)
c.*741G>C (n.*741G>C)
c.1916G>C (p.Gly639Ala)
c.276+16120C>G (n.276+16120C>G)
c.*220+6424G>C (n.*220+6424G>C)
c.1040G>C (p.Gly347Ala)
c.1067G>C (p.Gly356Ala)
c.1922G>C (p.Gly641Ala)
c.1736G>C (p.Gly579Ala)
c.1655G>C (p.Gly552Ala)
c.1361G>C (p.Gly454Ala)
c.1742G>C (p.Gly581Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687800C>TCA346743322GTF2A1L,LHCGR,STON1-GTF2A1Lc.1997G>A (p.Gly666Asp)
c.*309G>A (n.*309G>A)
c.3441+16120C>T (n.3441+16120C>T)
c.*741G>A (n.*741G>A)
c.1916G>A (p.Gly639Asp)
c.276+16120C>T (n.276+16120C>T)
c.*220+6424G>A (n.*220+6424G>A)
c.1040G>A (p.Gly347Asp)
c.1067G>A (p.Gly356Asp)
c.1922G>A (p.Gly641Asp)
c.1736G>A (p.Gly579Asp)
c.1655G>A (p.Gly552Asp)
c.1361G>A (p.Gly454Asp)
c.1742G>A (p.Gly581Asp)
2g.48687801C>ACA346743323GTF2A1L,LHCGR,STON1-GTF2A1Lc.1996G>T (p.Gly666Cys)
c.*308G>T (n.*308G>T)
c.3441+16121C>A (n.3441+16121C>A)
c.*740G>T (n.*740G>T)
c.1915G>T (p.Gly639Cys)
c.276+16121C>A (n.276+16121C>A)
c.*220+6423G>T (n.*220+6423G>T)
c.1039G>T (p.Gly347Cys)
c.1066G>T (p.Gly356Cys)
c.1921G>T (p.Gly641Cys)
c.1735G>T (p.Gly579Cys)
c.1654G>T (p.Gly552Cys)
c.1360G>T (p.Gly454Cys)
c.1741G>T (p.Gly581Cys)
 dbSNP gnomAD v4
2g.48687801C=CA1248600848GTF2A1L,LHCGR,STON1-GTF2A1Lc.1996G= (p.Gly666=)
c.*308G= (n.*308G=)
c.3441+16121C= (n.3441+16121C=)
c.*740G= (n.*740G=)
c.1915G= (p.Gly639=)
c.276+16121C= (n.276+16121C=)
c.*220+6423G= (n.*220+6423G=)
c.1039G= (p.Gly347=)
c.1066G= (p.Gly356=)
c.1921G= (p.Gly641=)
c.1735G= (p.Gly579=)
c.1654G= (p.Gly552=)
c.1360G= (p.Gly454=)
c.1741G= (p.Gly581=)
2g.48687801C>GCA346743324GTF2A1L,LHCGR,STON1-GTF2A1Lc.1996G>C (p.Gly666Arg)
c.*308G>C (n.*308G>C)
c.3441+16121C>G (n.3441+16121C>G)
c.*740G>C (n.*740G>C)
c.1915G>C (p.Gly639Arg)
c.276+16121C>G (n.276+16121C>G)
c.*220+6423G>C (n.*220+6423G>C)
c.1039G>C (p.Gly347Arg)
c.1066G>C (p.Gly356Arg)
c.1921G>C (p.Gly641Arg)
c.1735G>C (p.Gly579Arg)
c.1654G>C (p.Gly552Arg)
c.1360G>C (p.Gly454Arg)
c.1741G>C (p.Gly581Arg)
2g.48687801C>TCA346743325GTF2A1L,LHCGR,STON1-GTF2A1Lc.1996G>A (p.Gly666Ser)
c.*308G>A (n.*308G>A)
c.3441+16121C>T (n.3441+16121C>T)
c.*740G>A (n.*740G>A)
c.1915G>A (p.Gly639Ser)
c.276+16121C>T (n.276+16121C>T)
c.*220+6423G>A (n.*220+6423G>A)
c.1039G>A (p.Gly347Ser)
c.1066G>A (p.Gly356Ser)
c.1921G>A (p.Gly641Ser)
c.1735G>A (p.Gly579Ser)
c.1654G>A (p.Gly552Ser)
c.1360G>A (p.Gly454Ser)
c.1741G>A (p.Gly581Ser)
 gnomAD v4
2g.48687802A>CCA346743327GTF2A1L,LHCGR,STON1-GTF2A1Lc.1995T>G (p.Asn665Lys)
c.*307T>G (n.*307T>G)
c.3441+16122A>C (n.3441+16122A>C)
c.*739T>G (n.*739T>G)
c.1914T>G (p.Asn638Lys)
c.276+16122A>C (n.276+16122A>C)
c.*220+6422T>G (n.*220+6422T>G)
c.1038T>G (p.Asn346Lys)
c.1065T>G (p.Asn355Lys)
c.1920T>G (p.Asn640Lys)
c.1734T>G (p.Asn578Lys)
c.1653T>G (p.Asn551Lys)
c.1359T>G (p.Asn453Lys)
c.1740T>G (p.Asn580Lys)
 gnomAD v4
2g.48687802A>GCA426125067GTF2A1L,LHCGR,STON1-GTF2A1Lc.1995T>C (p.Asn665=)
c.*307T>C (n.*307T>C)
c.3441+16122A>G (n.3441+16122A>G)
c.*739T>C (n.*739T>C)
c.1914T>C (p.Asn638=)
c.276+16122A>G (n.276+16122A>G)
c.*220+6422T>C (n.*220+6422T>C)
c.1038T>C (p.Asn346=)
c.1065T>C (p.Asn355=)
c.1920T>C (p.Asn640=)
c.1734T>C (p.Asn578=)
c.1653T>C (p.Asn551=)
c.1359T>C (p.Asn453=)
c.1740T>C (p.Asn580=)
 gnomAD v4
2g.48687802A>TCA346743329GTF2A1L,LHCGR,STON1-GTF2A1Lc.1995T>A (p.Asn665Lys)
c.*307T>A (n.*307T>A)
c.3441+16122A>T (n.3441+16122A>T)
c.*739T>A (n.*739T>A)
c.1914T>A (p.Asn638Lys)
c.276+16122A>T (n.276+16122A>T)
c.*220+6422T>A (n.*220+6422T>A)
c.1038T>A (p.Asn346Lys)
c.1065T>A (p.Asn355Lys)
c.1920T>A (p.Asn640Lys)
c.1734T>A (p.Asn578Lys)
c.1653T>A (p.Asn551Lys)
c.1359T>A (p.Asn453Lys)
c.1740T>A (p.Asn580Lys)
2g.48687803T>ACA346743334GTF2A1L,LHCGR,STON1-GTF2A1Lc.1994A>T (p.Asn665Ile)
c.*306A>T (n.*306A>T)
c.3441+16123T>A (n.3441+16123T>A)
c.*738A>T (n.*738A>T)
c.1913A>T (p.Asn638Ile)
c.276+16123T>A (n.276+16123T>A)
c.*220+6421A>T (n.*220+6421A>T)
c.1037A>T (p.Asn346Ile)
c.1064A>T (p.Asn355Ile)
c.1919A>T (p.Asn640Ile)
c.1733A>T (p.Asn578Ile)
c.1652A>T (p.Asn551Ile)
c.1358A>T (p.Asn453Ile)
c.1739A>T (p.Asn580Ile)
2g.48687803T>CCA346743333GTF2A1L,LHCGR,STON1-GTF2A1Lc.1994A>G (p.Asn665Ser)
c.*306A>G (n.*306A>G)
c.3441+16123T>C (n.3441+16123T>C)
c.*738A>G (n.*738A>G)
c.1913A>G (p.Asn638Ser)
c.276+16123T>C (n.276+16123T>C)
c.*220+6421A>G (n.*220+6421A>G)
c.1037A>G (p.Asn346Ser)
c.1064A>G (p.Asn355Ser)
c.1919A>G (p.Asn640Ser)
c.1733A>G (p.Asn578Ser)
c.1652A>G (p.Asn551Ser)
c.1358A>G (p.Asn453Ser)
c.1739A>G (p.Asn580Ser)
2g.48687803T>GCA346743332GTF2A1L,LHCGR,STON1-GTF2A1Lc.1994A>C (p.Asn665Thr)
c.*306A>C (n.*306A>C)
c.3441+16123T>G (n.3441+16123T>G)
c.*738A>C (n.*738A>C)
c.1913A>C (p.Asn638Thr)
c.276+16123T>G (n.276+16123T>G)
c.*220+6421A>C (n.*220+6421A>C)
c.1037A>C (p.Asn346Thr)
c.1064A>C (p.Asn355Thr)
c.1919A>C (p.Asn640Thr)
c.1733A>C (p.Asn578Thr)
c.1652A>C (p.Asn551Thr)
c.1358A>C (p.Asn453Thr)
c.1739A>C (p.Asn580Thr)
 dbSNP
2g.48687803T=CA1248600849GTF2A1L,LHCGR,STON1-GTF2A1Lc.1994A= (p.Asn665=)
c.*306A= (n.*306A=)
c.3441+16123T= (n.3441+16123T=)
c.*738A= (n.*738A=)
c.1913A= (p.Asn638=)
c.276+16123T= (n.276+16123T=)
c.*220+6421A= (n.*220+6421A=)
c.1037A= (p.Asn346=)
c.1064A= (p.Asn355=)
c.1919A= (p.Asn640=)
c.1733A= (p.Asn578=)
c.1652A= (p.Asn551=)
c.1358A= (p.Asn453=)
c.1739A= (p.Asn580=)
2g.48687804T>ACA346743335GTF2A1L,LHCGR,STON1-GTF2A1Lc.1993A>T (p.Asn665Tyr)
c.*305A>T (n.*305A>T)
c.3441+16124T>A (n.3441+16124T>A)
c.*737A>T (n.*737A>T)
c.1912A>T (p.Asn638Tyr)
c.276+16124T>A (n.276+16124T>A)
c.*220+6420A>T (n.*220+6420A>T)
c.1036A>T (p.Asn346Tyr)
c.1063A>T (p.Asn355Tyr)
c.1918A>T (p.Asn640Tyr)
c.1732A>T (p.Asn578Tyr)
c.1651A>T (p.Asn551Tyr)
c.1357A>T (p.Asn453Tyr)
c.1738A>T (p.Asn580Tyr)
2g.48687804T>CCA346743336GTF2A1L,LHCGR,STON1-GTF2A1Lc.1993A>G (p.Asn665Asp)
c.*305A>G (n.*305A>G)
c.3441+16124T>C (n.3441+16124T>C)
c.*737A>G (n.*737A>G)
c.1912A>G (p.Asn638Asp)
c.276+16124T>C (n.276+16124T>C)
c.*220+6420A>G (n.*220+6420A>G)
c.1036A>G (p.Asn346Asp)
c.1063A>G (p.Asn355Asp)
c.1918A>G (p.Asn640Asp)
c.1732A>G (p.Asn578Asp)
c.1651A>G (p.Asn551Asp)
c.1357A>G (p.Asn453Asp)
c.1738A>G (p.Asn580Asp)
2g.48687804T>GCA346743344GTF2A1L,LHCGR,STON1-GTF2A1Lc.1993A>C (p.Asn665His)
c.*305A>C (n.*305A>C)
c.3441+16124T>G (n.3441+16124T>G)
c.*737A>C (n.*737A>C)
c.1912A>C (p.Asn638His)
c.276+16124T>G (n.276+16124T>G)
c.*220+6420A>C (n.*220+6420A>C)
c.1036A>C (p.Asn346His)
c.1063A>C (p.Asn355His)
c.1918A>C (p.Asn640His)
c.1732A>C (p.Asn578His)
c.1651A>C (p.Asn551His)
c.1357A>C (p.Asn453His)
c.1738A>C (p.Asn580His)
2g.48687805T>ACA346743348GTF2A1L,LHCGR,STON1-GTF2A1Lc.1992A>T (p.Lys664Asn)
c.*304A>T (n.*304A>T)
c.3441+16125T>A (n.3441+16125T>A)
c.*736A>T (n.*736A>T)
c.1911A>T (p.Lys637Asn)
c.276+16125T>A (n.276+16125T>A)
c.*220+6419A>T (n.*220+6419A>T)
c.1035A>T (p.Lys345Asn)
c.1062A>T (p.Lys354Asn)
c.1917A>T (p.Lys639Asn)
c.1731A>T (p.Lys577Asn)
c.1650A>T (p.Lys550Asn)
c.1356A>T (p.Lys452Asn)
c.1737A>T (p.Lys579Asn)
2g.48687805T>CCA426125074GTF2A1L,LHCGR,STON1-GTF2A1Lc.1992A>G (p.Lys664=)
c.*304A>G (n.*304A>G)
c.3441+16125T>C (n.3441+16125T>C)
c.*736A>G (n.*736A>G)
c.1911A>G (p.Lys637=)
c.276+16125T>C (n.276+16125T>C)
c.*220+6419A>G (n.*220+6419A>G)
c.1035A>G (p.Lys345=)
c.1062A>G (p.Lys354=)
c.1917A>G (p.Lys639=)
c.1731A>G (p.Lys577=)
c.1650A>G (p.Lys550=)
c.1356A>G (p.Lys452=)
c.1737A>G (p.Lys579=)
2g.48687805T>GCA346743350GTF2A1L,LHCGR,STON1-GTF2A1Lc.1992A>C (p.Lys664Asn)
c.*304A>C (n.*304A>C)
c.3441+16125T>G (n.3441+16125T>G)
c.*736A>C (n.*736A>C)
c.1911A>C (p.Lys637Asn)
c.276+16125T>G (n.276+16125T>G)
c.*220+6419A>C (n.*220+6419A>C)
c.1035A>C (p.Lys345Asn)
c.1062A>C (p.Lys354Asn)
c.1917A>C (p.Lys639Asn)
c.1731A>C (p.Lys577Asn)
c.1650A>C (p.Lys550Asn)
c.1356A>C (p.Lys452Asn)
c.1737A>C (p.Lys579Asn)
2g.48687806T>ACA346743353GTF2A1L,LHCGR,STON1-GTF2A1Lc.1991A>T (p.Lys664Ile)
c.*303A>T (n.*303A>T)
c.3441+16126T>A (n.3441+16126T>A)
c.*735A>T (n.*735A>T)
c.1910A>T (p.Lys637Ile)
c.276+16126T>A (n.276+16126T>A)
c.*220+6418A>T (n.*220+6418A>T)
c.1034A>T (p.Lys345Ile)
c.1061A>T (p.Lys354Ile)
c.1916A>T (p.Lys639Ile)
c.1730A>T (p.Lys577Ile)
c.1649A>T (p.Lys550Ile)
c.1355A>T (p.Lys452Ile)
c.1736A>T (p.Lys579Ile)
2g.48687806T>CCA346743356GTF2A1L,LHCGR,STON1-GTF2A1Lc.1991A>G (p.Lys664Arg)
c.*303A>G (n.*303A>G)
c.3441+16126T>C (n.3441+16126T>C)
c.*735A>G (n.*735A>G)
c.1910A>G (p.Lys637Arg)
c.276+16126T>C (n.276+16126T>C)
c.*220+6418A>G (n.*220+6418A>G)
c.1034A>G (p.Lys345Arg)
c.1061A>G (p.Lys354Arg)
c.1916A>G (p.Lys639Arg)
c.1730A>G (p.Lys577Arg)
c.1649A>G (p.Lys550Arg)
c.1355A>G (p.Lys452Arg)
c.1736A>G (p.Lys579Arg)
2g.48687806T>GCA346743358GTF2A1L,LHCGR,STON1-GTF2A1Lc.1991A>C (p.Lys664Thr)
c.*303A>C (n.*303A>C)
c.3441+16126T>G (n.3441+16126T>G)
c.*735A>C (n.*735A>C)
c.1910A>C (p.Lys637Thr)
c.276+16126T>G (n.276+16126T>G)
c.*220+6418A>C (n.*220+6418A>C)
c.1034A>C (p.Lys345Thr)
c.1061A>C (p.Lys354Thr)
c.1916A>C (p.Lys639Thr)
c.1730A>C (p.Lys577Thr)
c.1649A>C (p.Lys550Thr)
c.1355A>C (p.Lys452Thr)
c.1736A>C (p.Lys579Thr)
 COSMIC
2g.48687807T>ACA346743365GTF2A1L,LHCGR,STON1-GTF2A1Lc.1990A>T (p.Lys664Ter)
c.*302A>T (n.*302A>T)
c.3441+16127T>A (n.3441+16127T>A)
c.*734A>T (n.*734A>T)
c.1909A>T (p.Lys637Ter)
c.276+16127T>A (n.276+16127T>A)
c.*220+6417A>T (n.*220+6417A>T)
c.1033A>T (p.Lys345Ter)
c.1060A>T (p.Lys354Ter)
c.1915A>T (p.Lys639Ter)
c.1729A>T (p.Lys577Ter)
c.1648A>T (p.Lys550Ter)
c.1354A>T (p.Lys452Ter)
c.1735A>T (p.Lys579Ter)
2g.48687807T>CCA346743370GTF2A1L,LHCGR,STON1-GTF2A1Lc.1990A>G (p.Lys664Glu)
c.*302A>G (n.*302A>G)
c.3441+16127T>C (n.3441+16127T>C)
c.*734A>G (n.*734A>G)
c.1909A>G (p.Lys637Glu)
c.276+16127T>C (n.276+16127T>C)
c.*220+6417A>G (n.*220+6417A>G)
c.1033A>G (p.Lys345Glu)
c.1060A>G (p.Lys354Glu)
c.1915A>G (p.Lys639Glu)
c.1729A>G (p.Lys577Glu)
c.1648A>G (p.Lys550Glu)
c.1354A>G (p.Lys452Glu)
c.1735A>G (p.Lys579Glu)
2g.48687807T>GCA346743371GTF2A1L,LHCGR,STON1-GTF2A1Lc.1990A>C (p.Lys664Gln)
c.*302A>C (n.*302A>C)
c.3441+16127T>G (n.3441+16127T>G)
c.*734A>C (n.*734A>C)
c.1909A>C (p.Lys637Gln)
c.276+16127T>G (n.276+16127T>G)
c.*220+6417A>C (n.*220+6417A>C)
c.1033A>C (p.Lys345Gln)
c.1060A>C (p.Lys354Gln)
c.1915A>C (p.Lys639Gln)
c.1729A>C (p.Lys577Gln)
c.1648A>C (p.Lys550Gln)
c.1354A>C (p.Lys452Gln)
c.1735A>C (p.Lys579Gln)
2g.48687808G>ACA426125080GTF2A1L,LHCGR,STON1-GTF2A1Lc.1989C>T (p.Cys663=)
c.*301C>T (n.*301C>T)
c.3441+16128G>A (n.3441+16128G>A)
c.*733C>T (n.*733C>T)
c.1908C>T (p.Cys636=)
c.276+16128G>A (n.276+16128G>A)
c.*220+6416C>T (n.*220+6416C>T)
c.1032C>T (p.Cys344=)
c.1059C>T (p.Cys353=)
c.1914C>T (p.Cys638=)
c.1728C>T (p.Cys576=)
c.1647C>T (p.Cys549=)
c.1353C>T (p.Cys451=)
c.1734C>T (p.Cys578=)
 gnomAD v4
2g.48687808G>CCA346743373GTF2A1L,LHCGR,STON1-GTF2A1Lc.1989C>G (p.Cys663Trp)
c.*301C>G (n.*301C>G)
c.3441+16128G>C (n.3441+16128G>C)
c.*733C>G (n.*733C>G)
c.1908C>G (p.Cys636Trp)
c.276+16128G>C (n.276+16128G>C)
c.*220+6416C>G (n.*220+6416C>G)
c.1032C>G (p.Cys344Trp)
c.1059C>G (p.Cys353Trp)
c.1914C>G (p.Cys638Trp)
c.1728C>G (p.Cys576Trp)
c.1647C>G (p.Cys549Trp)
c.1353C>G (p.Cys451Trp)
c.1734C>G (p.Cys578Trp)
2g.48687808G>TCA346743375GTF2A1L,LHCGR,STON1-GTF2A1Lc.1989C>A (p.Cys663Ter)
c.*301C>A (n.*301C>A)
c.3441+16128G>T (n.3441+16128G>T)
c.*733C>A (n.*733C>A)
c.1908C>A (p.Cys636Ter)
c.276+16128G>T (n.276+16128G>T)
c.*220+6416C>A (n.*220+6416C>A)
c.1032C>A (p.Cys344Ter)
c.1059C>A (p.Cys353Ter)
c.1914C>A (p.Cys638Ter)
c.1728C>A (p.Cys576Ter)
c.1647C>A (p.Cys549Ter)
c.1353C>A (p.Cys451Ter)
c.1734C>A (p.Cys578Ter)
2g.48687809C>ACA346743392GTF2A1L,LHCGR,STON1-GTF2A1Lc.1988G>T (p.Cys663Phe)
c.*300G>T (n.*300G>T)
c.3441+16129C>A (n.3441+16129C>A)
c.*732G>T (n.*732G>T)
c.1907G>T (p.Cys636Phe)
c.276+16129C>A (n.276+16129C>A)
c.*220+6415G>T (n.*220+6415G>T)
c.1031G>T (p.Cys344Phe)
c.1058G>T (p.Cys353Phe)
c.1913G>T (p.Cys638Phe)
c.1727G>T (p.Cys576Phe)
c.1646G>T (p.Cys549Phe)
c.1352G>T (p.Cys451Phe)
c.1733G>T (p.Cys578Phe)
2g.48687809C>GCA346743400GTF2A1L,LHCGR,STON1-GTF2A1Lc.1988G>C (p.Cys663Ser)
c.*300G>C (n.*300G>C)
c.3441+16129C>G (n.3441+16129C>G)
c.*732G>C (n.*732G>C)
c.1907G>C (p.Cys636Ser)
c.276+16129C>G (n.276+16129C>G)
c.*220+6415G>C (n.*220+6415G>C)
c.1031G>C (p.Cys344Ser)
c.1058G>C (p.Cys353Ser)
c.1913G>C (p.Cys638Ser)
c.1727G>C (p.Cys576Ser)
c.1646G>C (p.Cys549Ser)
c.1352G>C (p.Cys451Ser)
c.1733G>C (p.Cys578Ser)
 COSMIC
2g.48687809C>TCA346743389GTF2A1L,LHCGR,STON1-GTF2A1Lc.1988G>A (p.Cys663Tyr)
c.*300G>A (n.*300G>A)
c.3441+16129C>T (n.3441+16129C>T)
c.*732G>A (n.*732G>A)
c.1907G>A (p.Cys636Tyr)
c.276+16129C>T (n.276+16129C>T)
c.*220+6415G>A (n.*220+6415G>A)
c.1031G>A (p.Cys344Tyr)
c.1058G>A (p.Cys353Tyr)
c.1913G>A (p.Cys638Tyr)
c.1727G>A (p.Cys576Tyr)
c.1646G>A (p.Cys549Tyr)
c.1352G>A (p.Cys451Tyr)
c.1733G>A (p.Cys578Tyr)
2g.48687810A>CCA346743401GTF2A1L,LHCGR,STON1-GTF2A1Lc.1987T>G (p.Cys663Gly)
c.*299T>G (n.*299T>G)
c.3441+16130A>C (n.3441+16130A>C)
c.*731T>G (n.*731T>G)
c.1906T>G (p.Cys636Gly)
c.276+16130A>C (n.276+16130A>C)
c.*220+6414T>G (n.*220+6414T>G)
c.1030T>G (p.Cys344Gly)
c.1057T>G (p.Cys353Gly)
c.1912T>G (p.Cys638Gly)
c.1726T>G (p.Cys576Gly)
c.1645T>G (p.Cys549Gly)
c.1351T>G (p.Cys451Gly)
c.1732T>G (p.Cys578Gly)
2g.48687810A>GCA346743403GTF2A1L,LHCGR,STON1-GTF2A1Lc.1987T>C (p.Cys663Arg)
c.*299T>C (n.*299T>C)
c.3441+16130A>G (n.3441+16130A>G)
c.*731T>C (n.*731T>C)
c.1906T>C (p.Cys636Arg)
c.276+16130A>G (n.276+16130A>G)
c.*220+6414T>C (n.*220+6414T>C)
c.1030T>C (p.Cys344Arg)
c.1057T>C (p.Cys353Arg)
c.1912T>C (p.Cys638Arg)
c.1726T>C (p.Cys576Arg)
c.1645T>C (p.Cys549Arg)
c.1351T>C (p.Cys451Arg)
c.1732T>C (p.Cys578Arg)
2g.48687810A>TCA346743402GTF2A1L,LHCGR,STON1-GTF2A1Lc.1987T>A (p.Cys663Ser)
c.*299T>A (n.*299T>A)
c.3441+16130A>T (n.3441+16130A>T)
c.*731T>A (n.*731T>A)
c.1906T>A (p.Cys636Ser)
c.276+16130A>T (n.276+16130A>T)
c.*220+6414T>A (n.*220+6414T>A)
c.1030T>A (p.Cys344Ser)
c.1057T>A (p.Cys353Ser)
c.1912T>A (p.Cys638Ser)
c.1726T>A (p.Cys576Ser)
c.1645T>A (p.Cys549Ser)
c.1351T>A (p.Cys451Ser)
c.1732T>A (p.Cys578Ser)
 gnomAD v4
2g.48687811G>ACA426125086GTF2A1L,LHCGR,STON1-GTF2A1Lc.1986C>T (p.Asn662=)
c.*298C>T (n.*298C>T)
c.3441+16131G>A (n.3441+16131G>A)
c.*730C>T (n.*730C>T)
c.1905C>T (p.Asn635=)
c.276+16131G>A (n.276+16131G>A)
c.*220+6413C>T (n.*220+6413C>T)
c.1029C>T (p.Asn343=)
c.1056C>T (p.Asn352=)
c.1911C>T (p.Asn637=)
c.1725C>T (p.Asn575=)
c.1644C>T (p.Asn548=)
c.1350C>T (p.Asn450=)
c.1731C>T (p.Asn577=)
2g.48687811G>CCA346743404GTF2A1L,LHCGR,STON1-GTF2A1Lc.1986C>G (p.Asn662Lys)
c.*298C>G (n.*298C>G)
c.3441+16131G>C (n.3441+16131G>C)
c.*730C>G (n.*730C>G)
c.1905C>G (p.Asn635Lys)
c.276+16131G>C (n.276+16131G>C)
c.*220+6413C>G (n.*220+6413C>G)
c.1029C>G (p.Asn343Lys)
c.1056C>G (p.Asn352Lys)
c.1911C>G (p.Asn637Lys)
c.1725C>G (p.Asn575Lys)
c.1644C>G (p.Asn548Lys)
c.1350C>G (p.Asn450Lys)
c.1731C>G (p.Asn577Lys)
2g.48687811G=CA1248600850GTF2A1L,LHCGR,STON1-GTF2A1Lc.1986C= (p.Asn662=)
c.*298C= (n.*298C=)
c.3441+16131G= (n.3441+16131G=)
c.*730C= (n.*730C=)
c.1905C= (p.Asn635=)
c.276+16131G= (n.276+16131G=)
c.*220+6413C= (n.*220+6413C=)
c.1029C= (p.Asn343=)
c.1056C= (p.Asn352=)
c.1911C= (p.Asn637=)
c.1725C= (p.Asn575=)
c.1644C= (p.Asn548=)
c.1350C= (p.Asn450=)
c.1731C= (p.Asn577=)
2g.48687811G>TCA46752495GTF2A1L,LHCGR,STON1-GTF2A1Lc.1986C>A (p.Asn662Lys)
c.*298C>A (n.*298C>A)
c.3441+16131G>T (n.3441+16131G>T)
c.*730C>A (n.*730C>A)
c.1905C>A (p.Asn635Lys)
c.276+16131G>T (n.276+16131G>T)
c.*220+6413C>A (n.*220+6413C>A)
c.1029C>A (p.Asn343Lys)
c.1056C>A (p.Asn352Lys)
c.1911C>A (p.Asn637Lys)
c.1725C>A (p.Asn575Lys)
c.1644C>A (p.Asn548Lys)
c.1350C>A (p.Asn450Lys)
c.1731C>A (p.Asn577Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.48687812T>ACA346743405GTF2A1L,LHCGR,STON1-GTF2A1Lc.1985A>T (p.Asn662Ile)
c.*297A>T (n.*297A>T)
c.3441+16132T>A (n.3441+16132T>A)
c.*729A>T (n.*729A>T)
c.1904A>T (p.Asn635Ile)
c.276+16132T>A (n.276+16132T>A)
c.*220+6412A>T (n.*220+6412A>T)
c.1028A>T (p.Asn343Ile)
c.1055A>T (p.Asn352Ile)
c.1910A>T (p.Asn637Ile)
c.1724A>T (p.Asn575Ile)
c.1643A>T (p.Asn548Ile)
c.1349A>T (p.Asn450Ile)
c.1730A>T (p.Asn577Ile)
2g.48687812T>CCA1652953GTF2A1L,LHCGR,STON1-GTF2A1Lc.1985A>G (p.Asn662Ser)
c.*297A>G (n.*297A>G)
c.3441+16132T>C (n.3441+16132T>C)
c.*729A>G (n.*729A>G)
c.1904A>G (p.Asn635Ser)
c.276+16132T>C (n.276+16132T>C)
c.*220+6412A>G (n.*220+6412A>G)
c.1028A>G (p.Asn343Ser)
c.1055A>G (p.Asn352Ser)
c.1910A>G (p.Asn637Ser)
c.1724A>G (p.Asn575Ser)
c.1643A>G (p.Asn548Ser)
c.1349A>G (p.Asn450Ser)
c.1730A>G (p.Asn577Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.48687812T>GCA346743407GTF2A1L,LHCGR,STON1-GTF2A1Lc.1985A>C (p.Asn662Thr)
c.*297A>C (n.*297A>C)
c.3441+16132T>G (n.3441+16132T>G)
c.*729A>C (n.*729A>C)
c.1904A>C (p.Asn635Thr)
c.276+16132T>G (n.276+16132T>G)
c.*220+6412A>C (n.*220+6412A>C)
c.1028A>C (p.Asn343Thr)
c.1055A>C (p.Asn352Thr)
c.1910A>C (p.Asn637Thr)
c.1724A>C (p.Asn575Thr)
c.1643A>C (p.Asn548Thr)
c.1349A>C (p.Asn450Thr)
c.1730A>C (p.Asn577Thr)
2g.48687812T=CA1248600851GTF2A1L,LHCGR,STON1-GTF2A1Lc.1985A= (p.Asn662=)
c.*297A= (n.*297A=)
c.3441+16132T= (n.3441+16132T=)
c.*729A= (n.*729A=)
c.1904A= (p.Asn635=)
c.276+16132T= (n.276+16132T=)
c.*220+6412A= (n.*220+6412A=)
c.1028A= (p.Asn343=)
c.1055A= (p.Asn352=)
c.1910A= (p.Asn637=)
c.1724A= (p.Asn575=)
c.1643A= (p.Asn548=)
c.1349A= (p.Asn450=)
c.1730A= (p.Asn577=)
2g.48687813T>ACA346743411GTF2A1L,LHCGR,STON1-GTF2A1Lc.1984A>T (p.Asn662Tyr)
c.*296A>T (n.*296A>T)
c.3441+16133T>A (n.3441+16133T>A)
c.*728A>T (n.*728A>T)
c.1903A>T (p.Asn635Tyr)
c.276+16133T>A (n.276+16133T>A)
c.*220+6411A>T (n.*220+6411A>T)
c.1027A>T (p.Asn343Tyr)
c.1054A>T (p.Asn352Tyr)
c.1909A>T (p.Asn637Tyr)
c.1723A>T (p.Asn575Tyr)
c.1642A>T (p.Asn548Tyr)
c.1348A>T (p.Asn450Tyr)
c.1729A>T (p.Asn577Tyr)
 gnomAD v4
2g.48687813T>CCA346743410GTF2A1L,LHCGR,STON1-GTF2A1Lc.1984A>G (p.Asn662Asp)
c.*296A>G (n.*296A>G)
c.3441+16133T>C (n.3441+16133T>C)
c.*728A>G (n.*728A>G)
c.1903A>G (p.Asn635Asp)
c.276+16133T>C (n.276+16133T>C)
c.*220+6411A>G (n.*220+6411A>G)
c.1027A>G (p.Asn343Asp)
c.1054A>G (p.Asn352Asp)
c.1909A>G (p.Asn637Asp)
c.1723A>G (p.Asn575Asp)
c.1642A>G (p.Asn548Asp)
c.1348A>G (p.Asn450Asp)
c.1729A>G (p.Asn577Asp)
2g.48687813T>GCA346743409GTF2A1L,LHCGR,STON1-GTF2A1Lc.1984A>C (p.Asn662His)
c.*296A>C (n.*296A>C)
c.3441+16133T>G (n.3441+16133T>G)
c.*728A>C (n.*728A>C)
c.1903A>C (p.Asn635His)
c.276+16133T>G (n.276+16133T>G)
c.*220+6411A>C (n.*220+6411A>C)
c.1027A>C (p.Asn343His)
c.1054A>C (p.Asn352His)
c.1909A>C (p.Asn637His)
c.1723A>C (p.Asn575His)
c.1642A>C (p.Asn548His)
c.1348A>C (p.Asn450His)
c.1729A>C (p.Asn577His)
2g.48687814G>ACA426125091GTF2A1L,LHCGR,STON1-GTF2A1Lc.1983C>T (p.Ser661=)
c.*295C>T (n.*295C>T)
c.3441+16134G>A (n.3441+16134G>A)
c.*727C>T (n.*727C>T)
c.1902C>T (p.Ser634=)
c.276+16134G>A (n.276+16134G>A)
c.*220+6410C>T (n.*220+6410C>T)
c.1026C>T (p.Ser342=)
c.1053C>T (p.Ser351=)
c.1908C>T (p.Ser636=)
c.1722C>T (p.Ser574=)
c.1641C>T (p.Ser547=)
c.1347C>T (p.Ser449=)
c.1728C>T (p.Ser576=)
2g.48687814G>CCA426125092GTF2A1L,LHCGR,STON1-GTF2A1Lc.1983C>G (p.Ser661=)
c.*295C>G (n.*295C>G)
c.3441+16134G>C (n.3441+16134G>C)
c.*727C>G (n.*727C>G)
c.1902C>G (p.Ser634=)
c.276+16134G>C (n.276+16134G>C)
c.*220+6410C>G (n.*220+6410C>G)
c.1026C>G (p.Ser342=)
c.1053C>G (p.Ser351=)
c.1908C>G (p.Ser636=)
c.1722C>G (p.Ser574=)
c.1641C>G (p.Ser547=)
c.1347C>G (p.Ser449=)
c.1728C>G (p.Ser576=)
2g.48687814G>TCA426125093GTF2A1L,LHCGR,STON1-GTF2A1Lc.1983C>A (p.Ser661=)
c.*295C>A (n.*295C>A)
c.3441+16134G>T (n.3441+16134G>T)
c.*727C>A (n.*727C>A)
c.1902C>A (p.Ser634=)
c.276+16134G>T (n.276+16134G>T)
c.*220+6410C>A (n.*220+6410C>A)
c.1026C>A (p.Ser342=)
c.1053C>A (p.Ser351=)
c.1908C>A (p.Ser636=)
c.1722C>A (p.Ser574=)
c.1641C>A (p.Ser547=)
c.1347C>A (p.Ser449=)
c.1728C>A (p.Ser576=)
2g.48687815G>ACA346743413GTF2A1L,LHCGR,STON1-GTF2A1Lc.1982C>T (p.Ser661Phe)
c.*294C>T (n.*294C>T)
c.3441+16135G>A (n.3441+16135G>A)
c.*726C>T (n.*726C>T)
c.1901C>T (p.Ser634Phe)
c.276+16135G>A (n.276+16135G>A)
c.*220+6409C>T (n.*220+6409C>T)
c.1025C>T (p.Ser342Phe)
c.1052C>T (p.Ser351Phe)
c.1907C>T (p.Ser636Phe)
c.1721C>T (p.Ser574Phe)
c.1640C>T (p.Ser547Phe)
c.1346C>T (p.Ser449Phe)
c.1727C>T (p.Ser576Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.48687815G>CCA46752500GTF2A1L,LHCGR,STON1-GTF2A1Lc.1982C>G (p.Ser661Cys)
c.*294C>G (n.*294C>G)
c.3441+16135G>C (n.3441+16135G>C)
c.*726C>G (n.*726C>G)
c.1901C>G (p.Ser634Cys)
c.276+16135G>C (n.276+16135G>C)
c.*220+6409C>G (n.*220+6409C>G)
c.1025C>G (p.Ser342Cys)
c.1052C>G (p.Ser351Cys)
c.1907C>G (p.Ser636Cys)
c.1721C>G (p.Ser574Cys)
c.1640C>G (p.Ser547Cys)
c.1346C>G (p.Ser449Cys)
c.1727C>G (p.Ser576Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.48687815G=CA1248600852GTF2A1L,LHCGR,STON1-GTF2A1Lc.1982C= (p.Ser661=)
c.*294C= (n.*294C=)
c.3441+16135G= (n.3441+16135G=)
c.*726C= (n.*726C=)
c.1901C= (p.Ser634=)
c.276+16135G= (n.276+16135G=)
c.*220+6409C= (n.*220+6409C=)
c.1025C= (p.Ser342=)
c.1052C= (p.Ser351=)
c.1907C= (p.Ser636=)
c.1721C= (p.Ser574=)
c.1640C= (p.Ser547=)
c.1346C= (p.Ser449=)
c.1727C= (p.Ser576=)
2g.48687815G>TCA346743415GTF2A1L,LHCGR,STON1-GTF2A1Lc.1982C>A (p.Ser661Tyr)
c.*294C>A (n.*294C>A)
c.3441+16135G>T (n.3441+16135G>T)
c.*726C>A (n.*726C>A)
c.1901C>A (p.Ser634Tyr)
c.276+16135G>T (n.276+16135G>T)
c.*220+6409C>A (n.*220+6409C>A)
c.1025C>A (p.Ser342Tyr)
c.1052C>A (p.Ser351Tyr)
c.1907C>A (p.Ser636Tyr)
c.1721C>A (p.Ser574Tyr)
c.1640C>A (p.Ser547Tyr)
c.1346C>A (p.Ser449Tyr)
c.1727C>A (p.Ser576Tyr)
2g.48687816A=CA1248600853GTF2A1L,LHCGR,STON1-GTF2A1Lc.1981T= (p.Ser661=)
c.*293T= (n.*293T=)
c.3441+16136A= (n.3441+16136A=)
c.*725T= (n.*725T=)
c.1900T= (p.Ser634=)
c.276+16136A= (n.276+16136A=)
c.*220+6408T= (n.*220+6408T=)
c.1024T= (p.Ser342=)
c.1051T= (p.Ser351=)
c.1906T= (p.Ser636=)
c.1720T= (p.Ser574=)
c.1639T= (p.Ser547=)
c.1345T= (p.Ser449=)
c.1726T= (p.Ser576=)
2g.48687816A>CCA346743417GTF2A1L,LHCGR,STON1-GTF2A1Lc.1981T>G (p.Ser661Ala)
c.*293T>G (n.*293T>G)
c.3441+16136A>C (n.3441+16136A>C)
c.*725T>G (n.*725T>G)
c.1900T>G (p.Ser634Ala)
c.276+16136A>C (n.276+16136A>C)
c.*220+6408T>G (n.*220+6408T>G)
c.1024T>G (p.Ser342Ala)
c.1051T>G (p.Ser351Ala)
c.1906T>G (p.Ser636Ala)
c.1720T>G (p.Ser574Ala)
c.1639T>G (p.Ser547Ala)
c.1345T>G (p.Ser449Ala)
c.1726T>G (p.Ser576Ala)
2g.48687816A>GCA46752503GTF2A1L,LHCGR,STON1-GTF2A1Lc.1981T>C (p.Ser661Pro)
c.*293T>C (n.*293T>C)
c.3441+16136A>G (n.3441+16136A>G)
c.*725T>C (n.*725T>C)
c.1900T>C (p.Ser634Pro)
c.276+16136A>G (n.276+16136A>G)
c.*220+6408T>C (n.*220+6408T>C)
c.1024T>C (p.Ser342Pro)
c.1051T>C (p.Ser351Pro)
c.1906T>C (p.Ser636Pro)
c.1720T>C (p.Ser574Pro)
c.1639T>C (p.Ser547Pro)
c.1345T>C (p.Ser449Pro)
c.1726T>C (p.Ser576Pro)
 dbSNP
2g.48687816A>TCA1652954GTF2A1L,LHCGR,STON1-GTF2A1Lc.1981T>A (p.Ser661Thr)
c.*293T>A (n.*293T>A)
c.3441+16136A>T (n.3441+16136A>T)
c.*725T>A (n.*725T>A)
c.1900T>A (p.Ser634Thr)
c.276+16136A>T (n.276+16136A>T)
c.*220+6408T>A (n.*220+6408T>A)
c.1024T>A (p.Ser342Thr)
c.1051T>A (p.Ser351Thr)
c.1906T>A (p.Ser636Thr)
c.1720T>A (p.Ser574Thr)
c.1639T>A (p.Ser547Thr)
c.1345T>A (p.Ser449Thr)
c.1726T>A (p.Ser576Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687817G>ACA426125100GTF2A1L,LHCGR,STON1-GTF2A1Lc.1980C>T (p.Thr660=)
c.*292C>T (n.*292C>T)
c.3441+16137G>A (n.3441+16137G>A)
c.*724C>T (n.*724C>T)
c.1899C>T (p.Thr633=)
c.276+16137G>A (n.276+16137G>A)
c.*220+6407C>T (n.*220+6407C>T)
c.1023C>T (p.Thr341=)
c.1050C>T (p.Thr350=)
c.1905C>T (p.Thr635=)
c.1719C>T (p.Thr573=)
c.1638C>T (p.Thr546=)
c.1344C>T (p.Thr448=)
c.1725C>T (p.Thr575=)
 gnomAD v4 COSMIC
2g.48687817G>CCA426125101GTF2A1L,LHCGR,STON1-GTF2A1Lc.1980C>G (p.Thr660=)
c.*292C>G (n.*292C>G)
c.3441+16137G>C (n.3441+16137G>C)
c.*724C>G (n.*724C>G)
c.1899C>G (p.Thr633=)
c.276+16137G>C (n.276+16137G>C)
c.*220+6407C>G (n.*220+6407C>G)
c.1023C>G (p.Thr341=)
c.1050C>G (p.Thr350=)
c.1905C>G (p.Thr635=)
c.1719C>G (p.Thr573=)
c.1638C>G (p.Thr546=)
c.1344C>G (p.Thr448=)
c.1725C>G (p.Thr575=)
2g.48687817G>TCA426125102GTF2A1L,LHCGR,STON1-GTF2A1Lc.1980C>A (p.Thr660=)
c.*292C>A (n.*292C>A)
c.3441+16137G>T (n.3441+16137G>T)
c.*724C>A (n.*724C>A)
c.1899C>A (p.Thr633=)
c.276+16137G>T (n.276+16137G>T)
c.*220+6407C>A (n.*220+6407C>A)
c.1023C>A (p.Thr341=)
c.1050C>A (p.Thr350=)
c.1905C>A (p.Thr635=)
c.1719C>A (p.Thr573=)
c.1638C>A (p.Thr546=)
c.1344C>A (p.Thr448=)
c.1725C>A (p.Thr575=)
 dbSNP gnomAD v3 gnomAD v4
2g.48687818G>ACA346743426GTF2A1L,LHCGR,STON1-GTF2A1Lc.1979C>T (p.Thr660Ile)
c.*291C>T (n.*291C>T)
c.3441+16138G>A (n.3441+16138G>A)
c.*723C>T (n.*723C>T)
c.1898C>T (p.Thr633Ile)
c.276+16138G>A (n.276+16138G>A)
c.*220+6406C>T (n.*220+6406C>T)
c.1022C>T (p.Thr341Ile)
c.1049C>T (p.Thr350Ile)
c.1904C>T (p.Thr635Ile)
c.1718C>T (p.Thr573Ile)
c.1637C>T (p.Thr546Ile)
c.1343C>T (p.Thr448Ile)
c.1724C>T (p.Thr575Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.48687818G>CCA1652955GTF2A1L,LHCGR,STON1-GTF2A1Lc.1979C>G (p.Thr660Ser)
c.*291C>G (n.*291C>G)
c.3441+16138G>C (n.3441+16138G>C)
c.*723C>G (n.*723C>G)
c.1898C>G (p.Thr633Ser)
c.276+16138G>C (n.276+16138G>C)
c.*220+6406C>G (n.*220+6406C>G)
c.1022C>G (p.Thr341Ser)
c.1049C>G (p.Thr350Ser)
c.1904C>G (p.Thr635Ser)
c.1718C>G (p.Thr573Ser)
c.1637C>G (p.Thr546Ser)
c.1343C>G (p.Thr448Ser)
c.1724C>G (p.Thr575Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687818G=CA1248600854GTF2A1L,LHCGR,STON1-GTF2A1Lc.1979C= (p.Thr660=)
c.*291C= (n.*291C=)
c.3441+16138G= (n.3441+16138G=)
c.*723C= (n.*723C=)
c.1898C= (p.Thr633=)
c.276+16138G= (n.276+16138G=)
c.*220+6406C= (n.*220+6406C=)
c.1022C= (p.Thr341=)
c.1049C= (p.Thr350=)
c.1904C= (p.Thr635=)
c.1718C= (p.Thr573=)
c.1637C= (p.Thr546=)
c.1343C= (p.Thr448=)
c.1724C= (p.Thr575=)
2g.48687818G>TCA346743428GTF2A1L,LHCGR,STON1-GTF2A1Lc.1979C>A (p.Thr660Asn)
c.*291C>A (n.*291C>A)
c.3441+16138G>T (n.3441+16138G>T)
c.*723C>A (n.*723C>A)
c.1898C>A (p.Thr633Asn)
c.276+16138G>T (n.276+16138G>T)
c.*220+6406C>A (n.*220+6406C>A)
c.1022C>A (p.Thr341Asn)
c.1049C>A (p.Thr350Asn)
c.1904C>A (p.Thr635Asn)
c.1718C>A (p.Thr573Asn)
c.1637C>A (p.Thr546Asn)
c.1343C>A (p.Thr448Asn)
c.1724C>A (p.Thr575Asn)
2g.48687819T>ACA346743433GTF2A1L,LHCGR,STON1-GTF2A1Lc.1978A>T (p.Thr660Ser)
c.*290A>T (n.*290A>T)
c.3441+16139T>A (n.3441+16139T>A)
c.*722A>T (n.*722A>T)
c.1897A>T (p.Thr633Ser)
c.276+16139T>A (n.276+16139T>A)
c.*220+6405A>T (n.*220+6405A>T)
c.1021A>T (p.Thr341Ser)
c.1048A>T (p.Thr350Ser)
c.1903A>T (p.Thr635Ser)
c.1717A>T (p.Thr573Ser)
c.1636A>T (p.Thr546Ser)
c.1342A>T (p.Thr448Ser)
c.1723A>T (p.Thr575Ser)
2g.48687819T>CCA346743434GTF2A1L,LHCGR,STON1-GTF2A1Lc.1978A>G (p.Thr660Ala)
c.*290A>G (n.*290A>G)
c.3441+16139T>C (n.3441+16139T>C)
c.*722A>G (n.*722A>G)
c.1897A>G (p.Thr633Ala)
c.276+16139T>C (n.276+16139T>C)
c.*220+6405A>G (n.*220+6405A>G)
c.1021A>G (p.Thr341Ala)
c.1048A>G (p.Thr350Ala)
c.1903A>G (p.Thr635Ala)
c.1717A>G (p.Thr573Ala)
c.1636A>G (p.Thr546Ala)
c.1342A>G (p.Thr448Ala)
c.1723A>G (p.Thr575Ala)
2g.48687819T>GCA346743439GTF2A1L,LHCGR,STON1-GTF2A1Lc.1978A>C (p.Thr660Pro)
c.*290A>C (n.*290A>C)
c.3441+16139T>G (n.3441+16139T>G)
c.*722A>C (n.*722A>C)
c.1897A>C (p.Thr633Pro)
c.276+16139T>G (n.276+16139T>G)
c.*220+6405A>C (n.*220+6405A>C)
c.1021A>C (p.Thr341Pro)
c.1048A>C (p.Thr350Pro)
c.1903A>C (p.Thr635Pro)
c.1717A>C (p.Thr573Pro)
c.1636A>C (p.Thr546Pro)
c.1342A>C (p.Thr448Pro)
c.1723A>C (p.Thr575Pro)
2g.48687820G>ACA46752505GTF2A1L,LHCGR,STON1-GTF2A1Lc.1977C>T (p.Tyr659=)
c.*289C>T (n.*289C>T)
c.3441+16140G>A (n.3441+16140G>A)
c.*721C>T (n.*721C>T)
c.1896C>T (p.Tyr632=)
c.276+16140G>A (n.276+16140G>A)
c.*220+6404C>T (n.*220+6404C>T)
c.1020C>T (p.Tyr340=)
c.1047C>T (p.Tyr349=)
c.1902C>T (p.Tyr634=)
c.1716C>T (p.Tyr572=)
c.1635C>T (p.Tyr545=)
c.1341C>T (p.Tyr447=)
c.1722C>T (p.Tyr574=)
 dbSNP gnomAD v4
2g.48687820G>CCA346743441GTF2A1L,LHCGR,STON1-GTF2A1Lc.1977C>G (p.Tyr659Ter)
c.*289C>G (n.*289C>G)
c.3441+16140G>C (n.3441+16140G>C)
c.*721C>G (n.*721C>G)
c.1896C>G (p.Tyr632Ter)
c.276+16140G>C (n.276+16140G>C)
c.*220+6404C>G (n.*220+6404C>G)
c.1020C>G (p.Tyr340Ter)
c.1047C>G (p.Tyr349Ter)
c.1902C>G (p.Tyr634Ter)
c.1716C>G (p.Tyr572Ter)
c.1635C>G (p.Tyr545Ter)
c.1341C>G (p.Tyr447Ter)
c.1722C>G (p.Tyr574Ter)
2g.48687820G=CA1248600855GTF2A1L,LHCGR,STON1-GTF2A1Lc.1977C= (p.Tyr659=)
c.*289C= (n.*289C=)
c.3441+16140G= (n.3441+16140G=)
c.*721C= (n.*721C=)
c.1896C= (p.Tyr632=)
c.276+16140G= (n.276+16140G=)
c.*220+6404C= (n.*220+6404C=)
c.1020C= (p.Tyr340=)
c.1047C= (p.Tyr349=)
c.1902C= (p.Tyr634=)
c.1716C= (p.Tyr572=)
c.1635C= (p.Tyr545=)
c.1341C= (p.Tyr447=)
c.1722C= (p.Tyr574=)
2g.48687820G>TCA346743448GTF2A1L,LHCGR,STON1-GTF2A1Lc.1977C>A (p.Tyr659Ter)
c.*289C>A (n.*289C>A)
c.3441+16140G>T (n.3441+16140G>T)
c.*721C>A (n.*721C>A)
c.1896C>A (p.Tyr632Ter)
c.276+16140G>T (n.276+16140G>T)
c.*220+6404C>A (n.*220+6404C>A)
c.1020C>A (p.Tyr340Ter)
c.1047C>A (p.Tyr349Ter)
c.1902C>A (p.Tyr634Ter)
c.1716C>A (p.Tyr572Ter)
c.1635C>A (p.Tyr545Ter)
c.1341C>A (p.Tyr447Ter)
c.1722C>A (p.Tyr574Ter)
2g.48687821T>ACA346743452GTF2A1L,LHCGR,STON1-GTF2A1Lc.1976A>T (p.Tyr659Phe)
c.*288A>T (n.*288A>T)
c.3441+16141T>A (n.3441+16141T>A)
c.*720A>T (n.*720A>T)
c.1895A>T (p.Tyr632Phe)
c.276+16141T>A (n.276+16141T>A)
c.*220+6403A>T (n.*220+6403A>T)
c.1019A>T (p.Tyr340Phe)
c.1046A>T (p.Tyr349Phe)
c.1901A>T (p.Tyr634Phe)
c.1715A>T (p.Tyr572Phe)
c.1634A>T (p.Tyr545Phe)
c.1340A>T (p.Tyr447Phe)
c.1721A>T (p.Tyr574Phe)
2g.48687821T>CCA346743453GTF2A1L,LHCGR,STON1-GTF2A1Lc.1976A>G (p.Tyr659Cys)
c.*288A>G (n.*288A>G)
c.3441+16141T>C (n.3441+16141T>C)
c.*720A>G (n.*720A>G)
c.1895A>G (p.Tyr632Cys)
c.276+16141T>C (n.276+16141T>C)
c.*220+6403A>G (n.*220+6403A>G)
c.1019A>G (p.Tyr340Cys)
c.1046A>G (p.Tyr349Cys)
c.1901A>G (p.Tyr634Cys)
c.1715A>G (p.Tyr572Cys)
c.1634A>G (p.Tyr545Cys)
c.1340A>G (p.Tyr447Cys)
c.1721A>G (p.Tyr574Cys)
2g.48687821T>GCA346743457GTF2A1L,LHCGR,STON1-GTF2A1Lc.1976A>C (p.Tyr659Ser)
c.*288A>C (n.*288A>C)
c.3441+16141T>G (n.3441+16141T>G)
c.*720A>C (n.*720A>C)
c.1895A>C (p.Tyr632Ser)
c.276+16141T>G (n.276+16141T>G)
c.*220+6403A>C (n.*220+6403A>C)
c.1019A>C (p.Tyr340Ser)
c.1046A>C (p.Tyr349Ser)
c.1901A>C (p.Tyr634Ser)
c.1715A>C (p.Tyr572Ser)
c.1634A>C (p.Tyr545Ser)
c.1340A>C (p.Tyr447Ser)
c.1721A>C (p.Tyr574Ser)
2g.48687822A>CCA346743460GTF2A1L,LHCGR,STON1-GTF2A1Lc.1975T>G (p.Tyr659Asp)
c.*287T>G (n.*287T>G)
c.3441+16142A>C (n.3441+16142A>C)
c.*719T>G (n.*719T>G)
c.1894T>G (p.Tyr632Asp)
c.276+16142A>C (n.276+16142A>C)
c.*220+6402T>G (n.*220+6402T>G)
c.1018T>G (p.Tyr340Asp)
c.1045T>G (p.Tyr349Asp)
c.1900T>G (p.Tyr634Asp)
c.1714T>G (p.Tyr572Asp)
c.1633T>G (p.Tyr545Asp)
c.1339T>G (p.Tyr447Asp)
c.1720T>G (p.Tyr574Asp)
2g.48687822A>GCA346743463GTF2A1L,LHCGR,STON1-GTF2A1Lc.1975T>C (p.Tyr659His)
c.*287T>C (n.*287T>C)
c.3441+16142A>G (n.3441+16142A>G)
c.*719T>C (n.*719T>C)
c.1894T>C (p.Tyr632His)
c.276+16142A>G (n.276+16142A>G)
c.*220+6402T>C (n.*220+6402T>C)
c.1018T>C (p.Tyr340His)
c.1045T>C (p.Tyr349His)
c.1900T>C (p.Tyr634His)
c.1714T>C (p.Tyr572His)
c.1633T>C (p.Tyr545His)
c.1339T>C (p.Tyr447His)
c.1720T>C (p.Tyr574His)
 COSMIC
2g.48687822A>TCA346743465GTF2A1L,LHCGR,STON1-GTF2A1Lc.1975T>A (p.Tyr659Asn)
c.*287T>A (n.*287T>A)
c.3441+16142A>T (n.3441+16142A>T)
c.*719T>A (n.*719T>A)
c.1894T>A (p.Tyr632Asn)
c.276+16142A>T (n.276+16142A>T)
c.*220+6402T>A (n.*220+6402T>A)
c.1018T>A (p.Tyr340Asn)
c.1045T>A (p.Tyr349Asn)
c.1900T>A (p.Tyr634Asn)
c.1714T>A (p.Tyr572Asn)
c.1633T>A (p.Tyr545Asn)
c.1339T>A (p.Tyr447Asn)
c.1720T>A (p.Tyr574Asn)
2g.48687823A>CCA426125110GTF2A1L,LHCGR,STON1-GTF2A1Lc.1974T>G (p.Ala658=)
c.*286T>G (n.*286T>G)
c.3441+16143A>C (n.3441+16143A>C)
c.*718T>G (n.*718T>G)
c.1893T>G (p.Ala631=)
c.276+16143A>C (n.276+16143A>C)
c.*220+6401T>G (n.*220+6401T>G)
c.1017T>G (p.Ala339=)
c.1044T>G (p.Ala348=)
c.1899T>G (p.Ala633=)
c.1713T>G (p.Ala571=)
c.1632T>G (p.Ala544=)
c.1338T>G (p.Ala446=)
c.1719T>G (p.Ala573=)
2g.48687823A>GCA426125111GTF2A1L,LHCGR,STON1-GTF2A1Lc.1974T>C (p.Ala658=)
c.*286T>C (n.*286T>C)
c.3441+16143A>G (n.3441+16143A>G)
c.*718T>C (n.*718T>C)
c.1893T>C (p.Ala631=)
c.276+16143A>G (n.276+16143A>G)
c.*220+6401T>C (n.*220+6401T>C)
c.1017T>C (p.Ala339=)
c.1044T>C (p.Ala348=)
c.1899T>C (p.Ala633=)
c.1713T>C (p.Ala571=)
c.1632T>C (p.Ala544=)
c.1338T>C (p.Ala446=)
c.1719T>C (p.Ala573=)
2g.48687823A>TCA426125112GTF2A1L,LHCGR,STON1-GTF2A1Lc.1974T>A (p.Ala658=)
c.*286T>A (n.*286T>A)
c.3441+16143A>T (n.3441+16143A>T)
c.*718T>A (n.*718T>A)
c.1893T>A (p.Ala631=)
c.276+16143A>T (n.276+16143A>T)
c.*220+6401T>A (n.*220+6401T>A)
c.1017T>A (p.Ala339=)
c.1044T>A (p.Ala348=)
c.1899T>A (p.Ala633=)
c.1713T>A (p.Ala571=)
c.1632T>A (p.Ala544=)
c.1338T>A (p.Ala446=)
c.1719T>A (p.Ala573=)
2g.48687824G>ACA346743468GTF2A1L,LHCGR,STON1-GTF2A1Lc.1973C>T (p.Ala658Val)
c.*285C>T (n.*285C>T)
c.3441+16144G>A (n.3441+16144G>A)
c.*717C>T (n.*717C>T)
c.1892C>T (p.Ala631Val)
c.276+16144G>A (n.276+16144G>A)
c.*220+6400C>T (n.*220+6400C>T)
c.1016C>T (p.Ala339Val)
c.1043C>T (p.Ala348Val)
c.1898C>T (p.Ala633Val)
c.1712C>T (p.Ala571Val)
c.1631C>T (p.Ala544Val)
c.1337C>T (p.Ala446Val)
c.1718C>T (p.Ala573Val)
 gnomAD v4
2g.48687824G>CCA346743470GTF2A1L,LHCGR,STON1-GTF2A1Lc.1973C>G (p.Ala658Gly)
c.*285C>G (n.*285C>G)
c.3441+16144G>C (n.3441+16144G>C)
c.*717C>G (n.*717C>G)
c.1892C>G (p.Ala631Gly)
c.276+16144G>C (n.276+16144G>C)
c.*220+6400C>G (n.*220+6400C>G)
c.1016C>G (p.Ala339Gly)
c.1043C>G (p.Ala348Gly)
c.1898C>G (p.Ala633Gly)
c.1712C>G (p.Ala571Gly)
c.1631C>G (p.Ala544Gly)
c.1337C>G (p.Ala446Gly)
c.1718C>G (p.Ala573Gly)
2g.48687824G>TCA346743469GTF2A1L,LHCGR,STON1-GTF2A1Lc.1973C>A (p.Ala658Asp)
c.*285C>A (n.*285C>A)
c.3441+16144G>T (n.3441+16144G>T)
c.*717C>A (n.*717C>A)
c.1892C>A (p.Ala631Asp)
c.276+16144G>T (n.276+16144G>T)
c.*220+6400C>A (n.*220+6400C>A)
c.1016C>A (p.Ala339Asp)
c.1043C>A (p.Ala348Asp)
c.1898C>A (p.Ala633Asp)
c.1712C>A (p.Ala571Asp)
c.1631C>A (p.Ala544Asp)
c.1337C>A (p.Ala446Asp)
c.1718C>A (p.Ala573Asp)
 gnomAD v4
2g.48687825C>ACA346743471GTF2A1L,LHCGR,STON1-GTF2A1Lc.1972G>T (p.Ala658Ser)
c.*284G>T (n.*284G>T)
c.3441+16145C>A (n.3441+16145C>A)
c.*716G>T (n.*716G>T)
c.1891G>T (p.Ala631Ser)
c.276+16145C>A (n.276+16145C>A)
c.*220+6399G>T (n.*220+6399G>T)
c.1015G>T (p.Ala339Ser)
c.1042G>T (p.Ala348Ser)
c.1897G>T (p.Ala633Ser)
c.1711G>T (p.Ala571Ser)
c.1630G>T (p.Ala544Ser)
c.1336G>T (p.Ala446Ser)
c.1717G>T (p.Ala573Ser)
 gnomAD v4
2g.48687825C>GCA346743472GTF2A1L,LHCGR,STON1-GTF2A1Lc.1972G>C (p.Ala658Pro)
c.*284G>C (n.*284G>C)
c.3441+16145C>G (n.3441+16145C>G)
c.*716G>C (n.*716G>C)
c.1891G>C (p.Ala631Pro)
c.276+16145C>G (n.276+16145C>G)
c.*220+6399G>C (n.*220+6399G>C)
c.1015G>C (p.Ala339Pro)
c.1042G>C (p.Ala348Pro)
c.1897G>C (p.Ala633Pro)
c.1711G>C (p.Ala571Pro)
c.1630G>C (p.Ala544Pro)
c.1336G>C (p.Ala446Pro)
c.1717G>C (p.Ala573Pro)
2g.48687825C>TCA346743473GTF2A1L,LHCGR,STON1-GTF2A1Lc.1972G>A (p.Ala658Thr)
c.*284G>A (n.*284G>A)
c.3441+16145C>T (n.3441+16145C>T)
c.*716G>A (n.*716G>A)
c.1891G>A (p.Ala631Thr)
c.276+16145C>T (n.276+16145C>T)
c.*220+6399G>A (n.*220+6399G>A)
c.1015G>A (p.Ala339Thr)
c.1042G>A (p.Ala348Thr)
c.1897G>A (p.Ala633Thr)
c.1711G>A (p.Ala571Thr)
c.1630G>A (p.Ala544Thr)
c.1336G>A (p.Ala446Thr)
c.1717G>A (p.Ala573Thr)
2g.48687826T>ACA426125118GTF2A1L,LHCGR,STON1-GTF2A1Lc.1971A>T (p.Ser657=)
c.*283A>T (n.*283A>T)
c.3441+16146T>A (n.3441+16146T>A)
c.*715A>T (n.*715A>T)
c.1890A>T (p.Ser630=)
c.276+16146T>A (n.276+16146T>A)
c.*220+6398A>T (n.*220+6398A>T)
c.1014A>T (p.Ser338=)
c.1041A>T (p.Ser347=)
c.1896A>T (p.Ser632=)
c.1710A>T (p.Ser570=)
c.1629A>T (p.Ser543=)
c.1335A>T (p.Ser445=)
c.1716A>T (p.Ser572=)
2g.48687826T>CCA1652956GTF2A1L,LHCGR,STON1-GTF2A1Lc.1971A>G (p.Ser657=)
c.*283A>G (n.*283A>G)
c.3441+16146T>C (n.3441+16146T>C)
c.*715A>G (n.*715A>G)
c.1890A>G (p.Ser630=)
c.276+16146T>C (n.276+16146T>C)
c.*220+6398A>G (n.*220+6398A>G)
c.1014A>G (p.Ser338=)
c.1041A>G (p.Ser347=)
c.1896A>G (p.Ser632=)
c.1710A>G (p.Ser570=)
c.1629A>G (p.Ser543=)
c.1335A>G (p.Ser445=)
c.1716A>G (p.Ser572=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687826T>GCA426125119GTF2A1L,LHCGR,STON1-GTF2A1Lc.1971A>C (p.Ser657=)
c.*283A>C (n.*283A>C)
c.3441+16146T>G (n.3441+16146T>G)
c.*715A>C (n.*715A>C)
c.1890A>C (p.Ser630=)
c.276+16146T>G (n.276+16146T>G)
c.*220+6398A>C (n.*220+6398A>C)
c.1014A>C (p.Ser338=)
c.1041A>C (p.Ser347=)
c.1896A>C (p.Ser632=)
c.1710A>C (p.Ser570=)
c.1629A>C (p.Ser543=)
c.1335A>C (p.Ser445=)
c.1716A>C (p.Ser572=)
2g.48687826T=CA1248600856GTF2A1L,LHCGR,STON1-GTF2A1Lc.1971A= (p.Ser657=)
c.*283A= (n.*283A=)
c.3441+16146T= (n.3441+16146T=)
c.*715A= (n.*715A=)
c.1890A= (p.Ser630=)
c.276+16146T= (n.276+16146T=)
c.*220+6398A= (n.*220+6398A=)
c.1014A= (p.Ser338=)
c.1041A= (p.Ser347=)
c.1896A= (p.Ser632=)
c.1710A= (p.Ser570=)
c.1629A= (p.Ser543=)
c.1335A= (p.Ser445=)
c.1716A= (p.Ser572=)
2g.48687827G>ACA346743476GTF2A1L,LHCGR,STON1-GTF2A1Lc.1970C>T (p.Ser657Leu)
c.*282C>T (n.*282C>T)
c.3441+16147G>A (n.3441+16147G>A)
c.*714C>T (n.*714C>T)
c.1889C>T (p.Ser630Leu)
c.276+16147G>A (n.276+16147G>A)
c.*220+6397C>T (n.*220+6397C>T)
c.1013C>T (p.Ser338Leu)
c.1040C>T (p.Ser347Leu)
c.1895C>T (p.Ser632Leu)
c.1709C>T (p.Ser570Leu)
c.1628C>T (p.Ser543Leu)
c.1334C>T (p.Ser445Leu)
c.1715C>T (p.Ser572Leu)
2g.48687827G>CCA346743478GTF2A1L,LHCGR,STON1-GTF2A1Lc.1970C>G (p.Ser657Ter)
c.*282C>G (n.*282C>G)
c.3441+16147G>C (n.3441+16147G>C)
c.*714C>G (n.*714C>G)
c.1889C>G (p.Ser630Ter)
c.276+16147G>C (n.276+16147G>C)
c.*220+6397C>G (n.*220+6397C>G)
c.1013C>G (p.Ser338Ter)
c.1040C>G (p.Ser347Ter)
c.1895C>G (p.Ser632Ter)
c.1709C>G (p.Ser570Ter)
c.1628C>G (p.Ser543Ter)
c.1334C>G (p.Ser445Ter)
c.1715C>G (p.Ser572Ter)
2g.48687827G>TCA346743479GTF2A1L,LHCGR,STON1-GTF2A1Lc.1970C>A (p.Ser657Ter)
c.*282C>A (n.*282C>A)
c.3441+16147G>T (n.3441+16147G>T)
c.*714C>A (n.*714C>A)
c.1889C>A (p.Ser630Ter)
c.276+16147G>T (n.276+16147G>T)
c.*220+6397C>A (n.*220+6397C>A)
c.1013C>A (p.Ser338Ter)
c.1040C>A (p.Ser347Ter)
c.1895C>A (p.Ser632Ter)
c.1709C>A (p.Ser570Ter)
c.1628C>A (p.Ser543Ter)
c.1334C>A (p.Ser445Ter)
c.1715C>A (p.Ser572Ter)
2g.48687828A=CA1248600857GTF2A1L,LHCGR,STON1-GTF2A1Lc.1969T= (p.Ser657=)
c.*281T= (n.*281T=)
c.3441+16148A= (n.3441+16148A=)
c.*713T= (n.*713T=)
c.1888T= (p.Ser630=)
c.276+16148A= (n.276+16148A=)
c.*220+6396T= (n.*220+6396T=)
c.1012T= (p.Ser338=)
c.1039T= (p.Ser347=)
c.1894T= (p.Ser632=)
c.1708T= (p.Ser570=)
c.1627T= (p.Ser543=)
c.1333T= (p.Ser445=)
c.1714T= (p.Ser572=)
2g.48687828A>CCA346743482GTF2A1L,LHCGR,STON1-GTF2A1Lc.1969T>G (p.Ser657Ala)
c.*281T>G (n.*281T>G)
c.3441+16148A>C (n.3441+16148A>C)
c.*713T>G (n.*713T>G)
c.1888T>G (p.Ser630Ala)
c.276+16148A>C (n.276+16148A>C)
c.*220+6396T>G (n.*220+6396T>G)
c.1012T>G (p.Ser338Ala)
c.1039T>G (p.Ser347Ala)
c.1894T>G (p.Ser632Ala)
c.1708T>G (p.Ser570Ala)
c.1627T>G (p.Ser543Ala)
c.1333T>G (p.Ser445Ala)
c.1714T>G (p.Ser572Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.48687828A>GCA346743483GTF2A1L,LHCGR,STON1-GTF2A1Lc.1969T>C (p.Ser657Pro)
c.*281T>C (n.*281T>C)
c.3441+16148A>G (n.3441+16148A>G)
c.*713T>C (n.*713T>C)
c.1888T>C (p.Ser630Pro)
c.276+16148A>G (n.276+16148A>G)
c.*220+6396T>C (n.*220+6396T>C)
c.1012T>C (p.Ser338Pro)
c.1039T>C (p.Ser347Pro)
c.1894T>C (p.Ser632Pro)
c.1708T>C (p.Ser570Pro)
c.1627T>C (p.Ser543Pro)
c.1333T>C (p.Ser445Pro)
c.1714T>C (p.Ser572Pro)
2g.48687828A>TCA346743484GTF2A1L,LHCGR,STON1-GTF2A1Lc.1969T>A (p.Ser657Thr)
c.*281T>A (n.*281T>A)
c.3441+16148A>T (n.3441+16148A>T)
c.*713T>A (n.*713T>A)
c.1888T>A (p.Ser630Thr)
c.276+16148A>T (n.276+16148A>T)
c.*220+6396T>A (n.*220+6396T>A)
c.1012T>A (p.Ser338Thr)
c.1039T>A (p.Ser347Thr)
c.1894T>A (p.Ser632Thr)
c.1708T>A (p.Ser570Thr)
c.1627T>A (p.Ser543Thr)
c.1333T>A (p.Ser445Thr)
c.1714T>A (p.Ser572Thr)
2g.48687829A>CCA346743485GTF2A1L,LHCGR,STON1-GTF2A1Lc.1968T>G (p.Phe656Leu)
c.*280T>G (n.*280T>G)
c.3441+16149A>C (n.3441+16149A>C)
c.*712T>G (n.*712T>G)
c.1887T>G (p.Phe629Leu)
c.276+16149A>C (n.276+16149A>C)
c.*220+6395T>G (n.*220+6395T>G)
c.1011T>G (p.Phe337Leu)
c.1038T>G (p.Phe346Leu)
c.1893T>G (p.Phe631Leu)
c.1707T>G (p.Phe569Leu)
c.1626T>G (p.Phe542Leu)
c.1332T>G (p.Phe444Leu)
c.1713T>G (p.Phe571Leu)
2g.48687829A>GCA426125126GTF2A1L,LHCGR,STON1-GTF2A1Lc.1968T>C (p.Phe656=)
c.*280T>C (n.*280T>C)
c.3441+16149A>G (n.3441+16149A>G)
c.*712T>C (n.*712T>C)
c.1887T>C (p.Phe629=)
c.276+16149A>G (n.276+16149A>G)
c.*220+6395T>C (n.*220+6395T>C)
c.1011T>C (p.Phe337=)
c.1038T>C (p.Phe346=)
c.1893T>C (p.Phe631=)
c.1707T>C (p.Phe569=)
c.1626T>C (p.Phe542=)
c.1332T>C (p.Phe444=)
c.1713T>C (p.Phe571=)
2g.48687829A>TCA346743486GTF2A1L,LHCGR,STON1-GTF2A1Lc.1968T>A (p.Phe656Leu)
c.*280T>A (n.*280T>A)
c.3441+16149A>T (n.3441+16149A>T)
c.*712T>A (n.*712T>A)
c.1887T>A (p.Phe629Leu)
c.276+16149A>T (n.276+16149A>T)
c.*220+6395T>A (n.*220+6395T>A)
c.1011T>A (p.Phe337Leu)
c.1038T>A (p.Phe346Leu)
c.1893T>A (p.Phe631Leu)
c.1707T>A (p.Phe569Leu)
c.1626T>A (p.Phe542Leu)
c.1332T>A (p.Phe444Leu)
c.1713T>A (p.Phe571Leu)
2g.48687830A=CA1248600858GTF2A1L,LHCGR,STON1-GTF2A1Lc.1967T= (p.Phe656=)
c.*279T= (n.*279T=)
c.3441+16150A= (n.3441+16150A=)
c.*711T= (n.*711T=)
c.1886T= (p.Phe629=)
c.276+16150A= (n.276+16150A=)
c.*220+6394T= (n.*220+6394T=)
c.1010T= (p.Phe337=)
c.1037T= (p.Phe346=)
c.1892T= (p.Phe631=)
c.1706T= (p.Phe569=)
c.1625T= (p.Phe542=)
c.1331T= (p.Phe444=)
c.1712T= (p.Phe571=)
2g.48687830A>CCA346743491GTF2A1L,LHCGR,STON1-GTF2A1Lc.1967T>G (p.Phe656Cys)
c.*279T>G (n.*279T>G)
c.3441+16150A>C (n.3441+16150A>C)
c.*711T>G (n.*711T>G)
c.1886T>G (p.Phe629Cys)
c.276+16150A>C (n.276+16150A>C)
c.*220+6394T>G (n.*220+6394T>G)
c.1010T>G (p.Phe337Cys)
c.1037T>G (p.Phe346Cys)
c.1892T>G (p.Phe631Cys)
c.1706T>G (p.Phe569Cys)
c.1625T>G (p.Phe542Cys)
c.1331T>G (p.Phe444Cys)
c.1712T>G (p.Phe571Cys)
2g.48687830A>GCA1652957GTF2A1L,LHCGR,STON1-GTF2A1Lc.1967T>C (p.Phe656Ser)
c.*279T>C (n.*279T>C)
c.3441+16150A>G (n.3441+16150A>G)
c.*711T>C (n.*711T>C)
c.1886T>C (p.Phe629Ser)
c.276+16150A>G (n.276+16150A>G)
c.*220+6394T>C (n.*220+6394T>C)
c.1010T>C (p.Phe337Ser)
c.1037T>C (p.Phe346Ser)
c.1892T>C (p.Phe631Ser)
c.1706T>C (p.Phe569Ser)
c.1625T>C (p.Phe542Ser)
c.1331T>C (p.Phe444Ser)
c.1712T>C (p.Phe571Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687830A>TCA346743490GTF2A1L,LHCGR,STON1-GTF2A1Lc.1967T>A (p.Phe656Tyr)
c.*279T>A (n.*279T>A)
c.3441+16150A>T (n.3441+16150A>T)
c.*711T>A (n.*711T>A)
c.1886T>A (p.Phe629Tyr)
c.276+16150A>T (n.276+16150A>T)
c.*220+6394T>A (n.*220+6394T>A)
c.1010T>A (p.Phe337Tyr)
c.1037T>A (p.Phe346Tyr)
c.1892T>A (p.Phe631Tyr)
c.1706T>A (p.Phe569Tyr)
c.1625T>A (p.Phe542Tyr)
c.1331T>A (p.Phe444Tyr)
c.1712T>A (p.Phe571Tyr)
2g.48687831A>CCA346743497GTF2A1L,LHCGR,STON1-GTF2A1Lc.1966T>G (p.Phe656Val)
c.*278T>G (n.*278T>G)
c.3441+16151A>C (n.3441+16151A>C)
c.*710T>G (n.*710T>G)
c.1885T>G (p.Phe629Val)
c.276+16151A>C (n.276+16151A>C)
c.*220+6393T>G (n.*220+6393T>G)
c.1009T>G (p.Phe337Val)
c.1036T>G (p.Phe346Val)
c.1891T>G (p.Phe631Val)
c.1705T>G (p.Phe569Val)
c.1624T>G (p.Phe542Val)
c.1330T>G (p.Phe444Val)
c.1711T>G (p.Phe571Val)
2g.48687831A>GCA346743499GTF2A1L,LHCGR,STON1-GTF2A1Lc.1966T>C (p.Phe656Leu)
c.*278T>C (n.*278T>C)
c.3441+16151A>G (n.3441+16151A>G)
c.*710T>C (n.*710T>C)
c.1885T>C (p.Phe629Leu)
c.276+16151A>G (n.276+16151A>G)
c.*220+6393T>C (n.*220+6393T>C)
c.1009T>C (p.Phe337Leu)
c.1036T>C (p.Phe346Leu)
c.1891T>C (p.Phe631Leu)
c.1705T>C (p.Phe569Leu)
c.1624T>C (p.Phe542Leu)
c.1330T>C (p.Phe444Leu)
c.1711T>C (p.Phe571Leu)
2g.48687831A>TCA346743502GTF2A1L,LHCGR,STON1-GTF2A1Lc.1966T>A (p.Phe656Ile)
c.*278T>A (n.*278T>A)
c.3441+16151A>T (n.3441+16151A>T)
c.*710T>A (n.*710T>A)
c.1885T>A (p.Phe629Ile)
c.276+16151A>T (n.276+16151A>T)
c.*220+6393T>A (n.*220+6393T>A)
c.1009T>A (p.Phe337Ile)
c.1036T>A (p.Phe346Ile)
c.1891T>A (p.Phe631Ile)
c.1705T>A (p.Phe569Ile)
c.1624T>A (p.Phe542Ile)
c.1330T>A (p.Phe444Ile)
c.1711T>A (p.Phe571Ile)
2g.48687832A>CCA346743505GTF2A1L,LHCGR,STON1-GTF2A1Lc.1965T>G (p.Asp655Glu)
c.*277T>G (n.*277T>G)
c.3441+16152A>C (n.3441+16152A>C)
c.*709T>G (n.*709T>G)
c.1884T>G (p.Asp628Glu)
c.276+16152A>C (n.276+16152A>C)
c.*220+6392T>G (n.*220+6392T>G)
c.1008T>G (p.Asp336Glu)
c.1035T>G (p.Asp345Glu)
c.1890T>G (p.Asp630Glu)
c.1704T>G (p.Asp568Glu)
c.1623T>G (p.Asp541Glu)
c.1329T>G (p.Asp443Glu)
c.1710T>G (p.Asp570Glu)
2g.48687832A>GCA426125131GTF2A1L,LHCGR,STON1-GTF2A1Lc.1965T>C (p.Asp655=)
c.*277T>C (n.*277T>C)
c.3441+16152A>G (n.3441+16152A>G)
c.*709T>C (n.*709T>C)
c.1884T>C (p.Asp628=)
c.276+16152A>G (n.276+16152A>G)
c.*220+6392T>C (n.*220+6392T>C)
c.1008T>C (p.Asp336=)
c.1035T>C (p.Asp345=)
c.1890T>C (p.Asp630=)
c.1704T>C (p.Asp568=)
c.1623T>C (p.Asp541=)
c.1329T>C (p.Asp443=)
c.1710T>C (p.Asp570=)
2g.48687832A>TCA346743511GTF2A1L,LHCGR,STON1-GTF2A1Lc.1965T>A (p.Asp655Glu)
c.*277T>A (n.*277T>A)
c.3441+16152A>T (n.3441+16152A>T)
c.*709T>A (n.*709T>A)
c.1884T>A (p.Asp628Glu)
c.276+16152A>T (n.276+16152A>T)
c.*220+6392T>A (n.*220+6392T>A)
c.1008T>A (p.Asp336Glu)
c.1035T>A (p.Asp345Glu)
c.1890T>A (p.Asp630Glu)
c.1704T>A (p.Asp568Glu)
c.1623T>A (p.Asp541Glu)
c.1329T>A (p.Asp443Glu)
c.1710T>A (p.Asp570Glu)
2g.48687833T>ACA346743514GTF2A1L,LHCGR,STON1-GTF2A1Lc.1964A>T (p.Asp655Val)
c.*276A>T (n.*276A>T)
c.3441+16153T>A (n.3441+16153T>A)
c.*708A>T (n.*708A>T)
c.1883A>T (p.Asp628Val)
c.276+16153T>A (n.276+16153T>A)
c.*220+6391A>T (n.*220+6391A>T)
c.1007A>T (p.Asp336Val)
c.1034A>T (p.Asp345Val)
c.1889A>T (p.Asp630Val)
c.1703A>T (p.Asp568Val)
c.1622A>T (p.Asp541Val)
c.1328A>T (p.Asp443Val)
c.1709A>T (p.Asp570Val)
2g.48687833T>CCA346743517GTF2A1L,LHCGR,STON1-GTF2A1Lc.1964A>G (p.Asp655Gly)
c.*276A>G (n.*276A>G)
c.3441+16153T>C (n.3441+16153T>C)
c.*708A>G (n.*708A>G)
c.1883A>G (p.Asp628Gly)
c.276+16153T>C (n.276+16153T>C)
c.*220+6391A>G (n.*220+6391A>G)
c.1007A>G (p.Asp336Gly)
c.1034A>G (p.Asp345Gly)
c.1889A>G (p.Asp630Gly)
c.1703A>G (p.Asp568Gly)
c.1622A>G (p.Asp541Gly)
c.1328A>G (p.Asp443Gly)
c.1709A>G (p.Asp570Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48687833T>GCA346743518GTF2A1L,LHCGR,STON1-GTF2A1Lc.1964A>C (p.Asp655Ala)
c.*276A>C (n.*276A>C)
c.3441+16153T>G (n.3441+16153T>G)
c.*708A>C (n.*708A>C)
c.1883A>C (p.Asp628Ala)
c.276+16153T>G (n.276+16153T>G)
c.*220+6391A>C (n.*220+6391A>C)
c.1007A>C (p.Asp336Ala)
c.1034A>C (p.Asp345Ala)
c.1889A>C (p.Asp630Ala)
c.1703A>C (p.Asp568Ala)
c.1622A>C (p.Asp541Ala)
c.1328A>C (p.Asp443Ala)
c.1709A>C (p.Asp570Ala)
2g.48687833T=CA1248600859GTF2A1L,LHCGR,STON1-GTF2A1Lc.1964A= (p.Asp655=)
c.*276A= (n.*276A=)
c.3441+16153T= (n.3441+16153T=)
c.*708A= (n.*708A=)
c.1883A= (p.Asp628=)
c.276+16153T= (n.276+16153T=)
c.*220+6391A= (n.*220+6391A=)
c.1007A= (p.Asp336=)
c.1034A= (p.Asp345=)
c.1889A= (p.Asp630=)
c.1703A= (p.Asp568=)
c.1622A= (p.Asp541=)
c.1328A= (p.Asp443=)
c.1709A= (p.Asp570=)
2g.48687834C>ACA346743521GTF2A1L,LHCGR,STON1-GTF2A1Lc.1963G>T (p.Asp655Tyr)
c.*275G>T (n.*275G>T)
c.3441+16154C>A (n.3441+16154C>A)
c.*707G>T (n.*707G>T)
c.1882G>T (p.Asp628Tyr)
c.276+16154C>A (n.276+16154C>A)
c.*220+6390G>T (n.*220+6390G>T)
c.1006G>T (p.Asp336Tyr)
c.1033G>T (p.Asp345Tyr)
c.1888G>T (p.Asp630Tyr)
c.1702G>T (p.Asp568Tyr)
c.1621G>T (p.Asp541Tyr)
c.1327G>T (p.Asp443Tyr)
c.1708G>T (p.Asp570Tyr)
 gnomAD v4 COSMIC
2g.48687834C=CA1248600860GTF2A1L,LHCGR,STON1-GTF2A1Lc.1963G= (p.Asp655=)
c.*275G= (n.*275G=)
c.3441+16154C= (n.3441+16154C=)
c.*707G= (n.*707G=)
c.1882G= (p.Asp628=)
c.276+16154C= (n.276+16154C=)
c.*220+6390G= (n.*220+6390G=)
c.1006G= (p.Asp336=)
c.1033G= (p.Asp345=)
c.1888G= (p.Asp630=)
c.1702G= (p.Asp568=)
c.1621G= (p.Asp541=)
c.1327G= (p.Asp443=)
c.1708G= (p.Asp570=)
2g.48687834C>GCA346743523GTF2A1L,LHCGR,STON1-GTF2A1Lc.1963G>C (p.Asp655His)
c.*275G>C (n.*275G>C)
c.3441+16154C>G (n.3441+16154C>G)
c.*707G>C (n.*707G>C)
c.1882G>C (p.Asp628His)
c.276+16154C>G (n.276+16154C>G)
c.*220+6390G>C (n.*220+6390G>C)
c.1006G>C (p.Asp336His)
c.1033G>C (p.Asp345His)
c.1888G>C (p.Asp630His)
c.1702G>C (p.Asp568His)
c.1621G>C (p.Asp541His)
c.1327G>C (p.Asp443His)
c.1708G>C (p.Asp570His)
 dbSNP gnomAD v4
2g.48687834C>TCA346743526GTF2A1L,LHCGR,STON1-GTF2A1Lc.1963G>A (p.Asp655Asn)
c.*275G>A (n.*275G>A)
c.3441+16154C>T (n.3441+16154C>T)
c.*707G>A (n.*707G>A)
c.1882G>A (p.Asp628Asn)
c.276+16154C>T (n.276+16154C>T)
c.*220+6390G>A (n.*220+6390G>A)
c.1006G>A (p.Asp336Asn)
c.1033G>A (p.Asp345Asn)
c.1888G>A (p.Asp630Asn)
c.1702G>A (p.Asp568Asn)
c.1621G>A (p.Asp541Asn)
c.1327G>A (p.Asp443Asn)
c.1708G>A (p.Asp570Asn)
2g.48687835T>ACA1652958GTF2A1L,LHCGR,STON1-GTF2A1Lc.1962A>T (p.Lys654Asn)
c.*274A>T (n.*274A>T)
c.3441+16155T>A (n.3441+16155T>A)
c.*706A>T (n.*706A>T)
c.1881A>T (p.Lys627Asn)
c.276+16155T>A (n.276+16155T>A)
c.*220+6389A>T (n.*220+6389A>T)
c.1005A>T (p.Lys335Asn)
c.1032A>T (p.Lys344Asn)
c.1887A>T (p.Lys629Asn)
c.1701A>T (p.Lys567Asn)
c.1620A>T (p.Lys540Asn)
c.1326A>T (p.Lys442Asn)
c.1707A>T (p.Lys569Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687835T>CCA426125134GTF2A1L,LHCGR,STON1-GTF2A1Lc.1962A>G (p.Lys654=)
c.*274A>G (n.*274A>G)
c.3441+16155T>C (n.3441+16155T>C)
c.*706A>G (n.*706A>G)
c.1881A>G (p.Lys627=)
c.276+16155T>C (n.276+16155T>C)
c.*220+6389A>G (n.*220+6389A>G)
c.1005A>G (p.Lys335=)
c.1032A>G (p.Lys344=)
c.1887A>G (p.Lys629=)
c.1701A>G (p.Lys567=)
c.1620A>G (p.Lys540=)
c.1326A>G (p.Lys442=)
c.1707A>G (p.Lys569=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48687835T>GCA346743527GTF2A1L,LHCGR,STON1-GTF2A1Lc.1962A>C (p.Lys654Asn)
c.*274A>C (n.*274A>C)
c.3441+16155T>G (n.3441+16155T>G)
c.*706A>C (n.*706A>C)
c.1881A>C (p.Lys627Asn)
c.276+16155T>G (n.276+16155T>G)
c.*220+6389A>C (n.*220+6389A>C)
c.1005A>C (p.Lys335Asn)
c.1032A>C (p.Lys344Asn)
c.1887A>C (p.Lys629Asn)
c.1701A>C (p.Lys567Asn)
c.1620A>C (p.Lys540Asn)
c.1326A>C (p.Lys442Asn)
c.1707A>C (p.Lys569Asn)
2g.48687835T=CA1248600861GTF2A1L,LHCGR,STON1-GTF2A1Lc.1962A= (p.Lys654=)
c.*274A= (n.*274A=)
c.3441+16155T= (n.3441+16155T=)
c.*706A= (n.*706A=)
c.1881A= (p.Lys627=)
c.276+16155T= (n.276+16155T=)
c.*220+6389A= (n.*220+6389A=)
c.1005A= (p.Lys335=)
c.1032A= (p.Lys344=)
c.1887A= (p.Lys629=)
c.1701A= (p.Lys567=)
c.1620A= (p.Lys540=)
c.1326A= (p.Lys442=)
c.1707A= (p.Lys569=)
2g.48687836T>ACA346743533GTF2A1L,LHCGR,STON1-GTF2A1Lc.1961A>T (p.Lys654Ile)
c.*273A>T (n.*273A>T)
c.3441+16156T>A (n.3441+16156T>A)
c.*705A>T (n.*705A>T)
c.1880A>T (p.Lys627Ile)
c.276+16156T>A (n.276+16156T>A)
c.*220+6388A>T (n.*220+6388A>T)
c.1004A>T (p.Lys335Ile)
c.1031A>T (p.Lys344Ile)
c.1886A>T (p.Lys629Ile)
c.1700A>T (p.Lys567Ile)
c.1619A>T (p.Lys540Ile)
c.1325A>T (p.Lys442Ile)
c.1706A>T (p.Lys569Ile)
2g.48687836T>CCA346743537GTF2A1L,LHCGR,STON1-GTF2A1Lc.1961A>G (p.Lys654Arg)
c.*273A>G (n.*273A>G)
c.3441+16156T>C (n.3441+16156T>C)
c.*705A>G (n.*705A>G)
c.1880A>G (p.Lys627Arg)
c.276+16156T>C (n.276+16156T>C)
c.*220+6388A>G (n.*220+6388A>G)
c.1004A>G (p.Lys335Arg)
c.1031A>G (p.Lys344Arg)
c.1886A>G (p.Lys629Arg)
c.1700A>G (p.Lys567Arg)
c.1619A>G (p.Lys540Arg)
c.1325A>G (p.Lys442Arg)
c.1706A>G (p.Lys569Arg)
2g.48687836T>GCA346743534GTF2A1L,LHCGR,STON1-GTF2A1Lc.1961A>C (p.Lys654Thr)
c.*273A>C (n.*273A>C)
c.3441+16156T>G (n.3441+16156T>G)
c.*705A>C (n.*705A>C)
c.1880A>C (p.Lys627Thr)
c.276+16156T>G (n.276+16156T>G)
c.*220+6388A>C (n.*220+6388A>C)
c.1004A>C (p.Lys335Thr)
c.1031A>C (p.Lys344Thr)
c.1886A>C (p.Lys629Thr)
c.1700A>C (p.Lys567Thr)
c.1619A>C (p.Lys540Thr)
c.1325A>C (p.Lys442Thr)
c.1706A>C (p.Lys569Thr)
2g.48687837T>ACA346743541GTF2A1L,LHCGR,STON1-GTF2A1Lc.1960A>T (p.Lys654Ter)
c.*272A>T (n.*272A>T)
c.3441+16157T>A (n.3441+16157T>A)
c.*704A>T (n.*704A>T)
c.1879A>T (p.Lys627Ter)
c.276+16157T>A (n.276+16157T>A)
c.*220+6387A>T (n.*220+6387A>T)
c.1003A>T (p.Lys335Ter)
c.1030A>T (p.Lys344Ter)
c.1885A>T (p.Lys629Ter)
c.1699A>T (p.Lys567Ter)
c.1618A>T (p.Lys540Ter)
c.1324A>T (p.Lys442Ter)
c.1705A>T (p.Lys569Ter)
2g.48687837T>CCA346743543GTF2A1L,LHCGR,STON1-GTF2A1Lc.1960A>G (p.Lys654Glu)
c.*272A>G (n.*272A>G)
c.3441+16157T>C (n.3441+16157T>C)
c.*704A>G (n.*704A>G)
c.1879A>G (p.Lys627Glu)
c.276+16157T>C (n.276+16157T>C)
c.*220+6387A>G (n.*220+6387A>G)
c.1003A>G (p.Lys335Glu)
c.1030A>G (p.Lys344Glu)
c.1885A>G (p.Lys629Glu)
c.1699A>G (p.Lys567Glu)
c.1618A>G (p.Lys540Glu)
c.1324A>G (p.Lys442Glu)
c.1705A>G (p.Lys569Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.48687837T>GCA346743545GTF2A1L,LHCGR,STON1-GTF2A1Lc.1960A>C (p.Lys654Gln)
c.*272A>C (n.*272A>C)
c.3441+16157T>G (n.3441+16157T>G)
c.*704A>C (n.*704A>C)
c.1879A>C (p.Lys627Gln)
c.276+16157T>G (n.276+16157T>G)
c.*220+6387A>C (n.*220+6387A>C)
c.1003A>C (p.Lys335Gln)
c.1030A>C (p.Lys344Gln)
c.1885A>C (p.Lys629Gln)
c.1699A>C (p.Lys567Gln)
c.1618A>C (p.Lys540Gln)
c.1324A>C (p.Lys442Gln)
c.1705A>C (p.Lys569Gln)
2g.48687837T=CA1248600862GTF2A1L,LHCGR,STON1-GTF2A1Lc.1960A= (p.Lys654=)
c.*272A= (n.*272A=)
c.3441+16157T= (n.3441+16157T=)
c.*704A= (n.*704A=)
c.1879A= (p.Lys627=)
c.276+16157T= (n.276+16157T=)
c.*220+6387A= (n.*220+6387A=)
c.1003A= (p.Lys335=)
c.1030A= (p.Lys344=)
c.1885A= (p.Lys629=)
c.1699A= (p.Lys567=)
c.1618A= (p.Lys540=)
c.1324A= (p.Lys442=)
c.1705A= (p.Lys569=)
2g.48687838C>ACA346743548GTF2A1L,LHCGR,STON1-GTF2A1Lc.1959G>T (p.Arg653Ser)
c.*271G>T (n.*271G>T)
c.3441+16158C>A (n.3441+16158C>A)
c.*703G>T (n.*703G>T)
c.1878G>T (p.Arg626Ser)
c.276+16158C>A (n.276+16158C>A)
c.*220+6386G>T (n.*220+6386G>T)
c.1002G>T (p.Arg334Ser)
c.1029G>T (p.Arg343Ser)
c.1884G>T (p.Arg628Ser)
c.1698G>T (p.Arg566Ser)
c.1617G>T (p.Arg539Ser)
c.1323G>T (p.Arg441Ser)
c.1704G>T (p.Arg568Ser)
2g.48687838C>GCA346743549GTF2A1L,LHCGR,STON1-GTF2A1Lc.1959G>C (p.Arg653Ser)
c.*271G>C (n.*271G>C)
c.3441+16158C>G (n.3441+16158C>G)
c.*703G>C (n.*703G>C)
c.1878G>C (p.Arg626Ser)
c.276+16158C>G (n.276+16158C>G)
c.*220+6386G>C (n.*220+6386G>C)
c.1002G>C (p.Arg334Ser)
c.1029G>C (p.Arg343Ser)
c.1884G>C (p.Arg628Ser)
c.1698G>C (p.Arg566Ser)
c.1617G>C (p.Arg539Ser)
c.1323G>C (p.Arg441Ser)
c.1704G>C (p.Arg568Ser)
 gnomAD v4
2g.48687838C>TCA426125140GTF2A1L,LHCGR,STON1-GTF2A1Lc.1959G>A (p.Arg653=)
c.*271G>A (n.*271G>A)
c.3441+16158C>T (n.3441+16158C>T)
c.*703G>A (n.*703G>A)
c.1878G>A (p.Arg626=)
c.276+16158C>T (n.276+16158C>T)
c.*220+6386G>A (n.*220+6386G>A)
c.1002G>A (p.Arg334=)
c.1029G>A (p.Arg343=)
c.1884G>A (p.Arg628=)
c.1698G>A (p.Arg566=)
c.1617G>A (p.Arg539=)
c.1323G>A (p.Arg441=)
c.1704G>A (p.Arg568=)
2g.48687839C>ACA346743552GTF2A1L,LHCGR,STON1-GTF2A1Lc.1958G>T (p.Arg653Met)
c.*270G>T (n.*270G>T)
c.3441+16159C>A (n.3441+16159C>A)
c.*702G>T (n.*702G>T)
c.1877G>T (p.Arg626Met)
c.276+16159C>A (n.276+16159C>A)
c.*220+6385G>T (n.*220+6385G>T)
c.1001G>T (p.Arg334Met)
c.1028G>T (p.Arg343Met)
c.1883G>T (p.Arg628Met)
c.1697G>T (p.Arg566Met)
c.1616G>T (p.Arg539Met)
c.1322G>T (p.Arg441Met)
c.1703G>T (p.Arg568Met)
2g.48687839C>GCA346743554GTF2A1L,LHCGR,STON1-GTF2A1Lc.1958G>C (p.Arg653Thr)
c.*270G>C (n.*270G>C)
c.3441+16159C>G (n.3441+16159C>G)
c.*702G>C (n.*702G>C)
c.1877G>C (p.Arg626Thr)
c.276+16159C>G (n.276+16159C>G)
c.*220+6385G>C (n.*220+6385G>C)
c.1001G>C (p.Arg334Thr)
c.1028G>C (p.Arg343Thr)
c.1883G>C (p.Arg628Thr)
c.1697G>C (p.Arg566Thr)
c.1616G>C (p.Arg539Thr)
c.1322G>C (p.Arg441Thr)
c.1703G>C (p.Arg568Thr)
2g.48687839C>TCA346743556GTF2A1L,LHCGR,STON1-GTF2A1Lc.1958G>A (p.Arg653Lys)
c.*270G>A (n.*270G>A)
c.3441+16159C>T (n.3441+16159C>T)
c.*702G>A (n.*702G>A)
c.1877G>A (p.Arg626Lys)
c.276+16159C>T (n.276+16159C>T)
c.*220+6385G>A (n.*220+6385G>A)
c.1001G>A (p.Arg334Lys)
c.1028G>A (p.Arg343Lys)
c.1883G>A (p.Arg628Lys)
c.1697G>A (p.Arg566Lys)
c.1616G>A (p.Arg539Lys)
c.1322G>A (p.Arg441Lys)
c.1703G>A (p.Arg568Lys)
 gnomAD v4
2g.48687839_48687840delinsCTCA1248600863GTF2A1L,LHCGR,STON1-GTF2A1Lc.1957_1958delinsAG (p.Arg653=)
c.*269_*270delinsAG (n.*269_*270delinsAG)
c.3441+16159_3441+16160delinsCT (n.3441+16159_3441+16160delinsCT)
c.*701_*702delinsAG (n.*701_*702delinsAG)
c.1876_1877delinsAG (p.Arg626=)
c.276+16159_276+16160delinsCT (n.276+16159_276+16160delinsCT)
c.*220+6384_*220+6385delinsAG (n.*220+6384_*220+6385delinsAG)
c.1000_1001delinsAG (p.Arg334=)
c.1027_1028delinsAG (p.Arg343=)
c.1882_1883delinsAG (p.Arg628=)
c.1696_1697delinsAG (p.Arg566=)
c.1615_1616delinsAG (p.Arg539=)
c.1321_1322delinsAG (p.Arg441=)
c.1702_1703delinsAG (p.Arg568=)
2g.48687840T>ACA346743559GTF2A1L,LHCGR,STON1-GTF2A1Lc.1957A>T (p.Arg653Trp)
c.*269A>T (n.*269A>T)
c.3441+16160T>A (n.3441+16160T>A)
c.*701A>T (n.*701A>T)
c.1876A>T (p.Arg626Trp)
c.276+16160T>A (n.276+16160T>A)
c.*220+6384A>T (n.*220+6384A>T)
c.1000A>T (p.Arg334Trp)
c.1027A>T (p.Arg343Trp)
c.1882A>T (p.Arg628Trp)
c.1696A>T (p.Arg566Trp)
c.1615A>T (p.Arg539Trp)
c.1321A>T (p.Arg441Trp)
c.1702A>T (p.Arg568Trp)
2g.48687840T>CCA346743560GTF2A1L,LHCGR,STON1-GTF2A1Lc.1957A>G (p.Arg653Gly)
c.*269A>G (n.*269A>G)
c.3441+16160T>C (n.3441+16160T>C)
c.*701A>G (n.*701A>G)
c.1876A>G (p.Arg626Gly)
c.276+16160T>C (n.276+16160T>C)
c.*220+6384A>G (n.*220+6384A>G)
c.1000A>G (p.Arg334Gly)
c.1027A>G (p.Arg343Gly)
c.1882A>G (p.Arg628Gly)
c.1696A>G (p.Arg566Gly)
c.1615A>G (p.Arg539Gly)
c.1321A>G (p.Arg441Gly)
c.1702A>G (p.Arg568Gly)
2g.48687840T>GCA426125143GTF2A1L,LHCGR,STON1-GTF2A1Lc.1957A>C (p.Arg653=)
c.*269A>C (n.*269A>C)
c.3441+16160T>G (n.3441+16160T>G)
c.*701A>C (n.*701A>C)
c.1876A>C (p.Arg626=)
c.276+16160T>G (n.276+16160T>G)
c.*220+6384A>C (n.*220+6384A>C)
c.1000A>C (p.Arg334=)
c.1027A>C (p.Arg343=)
c.1882A>C (p.Arg628=)
c.1696A>C (p.Arg566=)
c.1615A>C (p.Arg539=)
c.1321A>C (p.Arg441=)
c.1702A>C (p.Arg568=)
2g.48687841delCA1248600864GTF2A1L,LHCGR,STON1-GTF2A1Lc.1957del (p.Arg653GlyfsTer26)
c.*269del (n.*269del)
c.3441+16161del (n.3441+16161del)
c.*701del (n.*701del)
c.1876del (p.Arg626GlyfsTer26)
c.276+16161del (n.276+16161del)
c.*220+6384del (n.*220+6384del)
c.1000del (p.Arg334GlyfsTer26)
c.1027del (p.Arg343GlyfsTer26)
c.1882del (p.Arg628GlyfsTer26)
c.1696del (p.Arg566GlyfsTer26)
c.1615del (p.Arg539GlyfsTer26)
c.1321del (p.Arg441GlyfsTer26)
c.1702del (p.Arg568GlyfsTer26)
 dbSNP
2g.48687841T>ACA346743564GTF2A1L,LHCGR,STON1-GTF2A1Lc.1956A>T (p.Arg652Ser)
c.*268A>T (n.*268A>T)
c.3441+16161T>A (n.3441+16161T>A)
c.*700A>T (n.*700A>T)
c.1875A>T (p.Arg625Ser)
c.276+16161T>A (n.276+16161T>A)
c.*220+6383A>T (n.*220+6383A>T)
c.999A>T (p.Arg333Ser)
c.1026A>T (p.Arg342Ser)
c.1881A>T (p.Arg627Ser)
c.1695A>T (p.Arg565Ser)
c.1614A>T (p.Arg538Ser)
c.1320A>T (p.Arg440Ser)
c.1701A>T (p.Arg567Ser)
 gnomAD v4
2g.48687841T>CCA426125145GTF2A1L,LHCGR,STON1-GTF2A1Lc.1956A>G (p.Arg652=)
c.*268A>G (n.*268A>G)
c.3441+16161T>C (n.3441+16161T>C)
c.*700A>G (n.*700A>G)
c.1875A>G (p.Arg625=)
c.276+16161T>C (n.276+16161T>C)
c.*220+6383A>G (n.*220+6383A>G)
c.999A>G (p.Arg333=)
c.1026A>G (p.Arg342=)
c.1881A>G (p.Arg627=)
c.1695A>G (p.Arg565=)
c.1614A>G (p.Arg538=)
c.1320A>G (p.Arg440=)
c.1701A>G (p.Arg567=)
2g.48687841T>GCA346743567GTF2A1L,LHCGR,STON1-GTF2A1Lc.1956A>C (p.Arg652Ser)
c.*268A>C (n.*268A>C)
c.3441+16161T>G (n.3441+16161T>G)
c.*700A>C (n.*700A>C)
c.1875A>C (p.Arg625Ser)
c.276+16161T>G (n.276+16161T>G)
c.*220+6383A>C (n.*220+6383A>C)
c.999A>C (p.Arg333Ser)
c.1026A>C (p.Arg342Ser)
c.1881A>C (p.Arg627Ser)
c.1695A>C (p.Arg565Ser)
c.1614A>C (p.Arg538Ser)
c.1320A>C (p.Arg440Ser)
c.1701A>C (p.Arg567Ser)
2g.48687842C>ACA346743576GTF2A1L,LHCGR,STON1-GTF2A1Lc.1955G>T (p.Arg652Ile)
c.*267G>T (n.*267G>T)
c.3441+16162C>A (n.3441+16162C>A)
c.*699G>T (n.*699G>T)
c.1874G>T (p.Arg625Ile)
c.276+16162C>A (n.276+16162C>A)
c.*220+6382G>T (n.*220+6382G>T)
c.998G>T (p.Arg333Ile)
c.1025G>T (p.Arg342Ile)
c.1880G>T (p.Arg627Ile)
c.1694G>T (p.Arg565Ile)
c.1613G>T (p.Arg538Ile)
c.1319G>T (p.Arg440Ile)
c.1700G>T (p.Arg567Ile)
2g.48687842C=CA1248600865GTF2A1L,LHCGR,STON1-GTF2A1Lc.1955G= (p.Arg652=)
c.*267G= (n.*267G=)
c.3441+16162C= (n.3441+16162C=)
c.*699G= (n.*699G=)
c.1874G= (p.Arg625=)
c.276+16162C= (n.276+16162C=)
c.*220+6382G= (n.*220+6382G=)
c.998G= (p.Arg333=)
c.1025G= (p.Arg342=)
c.1880G= (p.Arg627=)
c.1694G= (p.Arg565=)
c.1613G= (p.Arg538=)
c.1319G= (p.Arg440=)
c.1700G= (p.Arg567=)
2g.48687842C>GCA346743571GTF2A1L,LHCGR,STON1-GTF2A1Lc.1955G>C (p.Arg652Thr)
c.*267G>C (n.*267G>C)
c.3441+16162C>G (n.3441+16162C>G)
c.*699G>C (n.*699G>C)
c.1874G>C (p.Arg625Thr)
c.276+16162C>G (n.276+16162C>G)
c.*220+6382G>C (n.*220+6382G>C)
c.998G>C (p.Arg333Thr)
c.1025G>C (p.Arg342Thr)
c.1880G>C (p.Arg627Thr)
c.1694G>C (p.Arg565Thr)
c.1613G>C (p.Arg538Thr)
c.1319G>C (p.Arg440Thr)
c.1700G>C (p.Arg567Thr)
2g.48687842C>TCA346743573GTF2A1L,LHCGR,STON1-GTF2A1Lc.1955G>A (p.Arg652Lys)
c.*267G>A (n.*267G>A)
c.3441+16162C>T (n.3441+16162C>T)
c.*699G>A (n.*699G>A)
c.1874G>A (p.Arg625Lys)
c.276+16162C>T (n.276+16162C>T)
c.*220+6382G>A (n.*220+6382G>A)
c.998G>A (p.Arg333Lys)
c.1025G>A (p.Arg342Lys)
c.1880G>A (p.Arg627Lys)
c.1694G>A (p.Arg565Lys)
c.1613G>A (p.Arg538Lys)
c.1319G>A (p.Arg440Lys)
c.1700G>A (p.Arg567Lys)
 dbSNP
2g.48687843T>ACA346743579GTF2A1L,LHCGR,STON1-GTF2A1Lc.1954A>T (p.Arg652Ter)
c.*266A>T (n.*266A>T)
c.3441+16163T>A (n.3441+16163T>A)
c.*698A>T (n.*698A>T)
c.1873A>T (p.Arg625Ter)
c.276+16163T>A (n.276+16163T>A)
c.*220+6381A>T (n.*220+6381A>T)
c.997A>T (p.Arg333Ter)
c.1024A>T (p.Arg342Ter)
c.1879A>T (p.Arg627Ter)
c.1693A>T (p.Arg565Ter)
c.1612A>T (p.Arg538Ter)
c.1318A>T (p.Arg440Ter)
c.1699A>T (p.Arg567Ter)
2g.48687843T>CCA346743581GTF2A1L,LHCGR,STON1-GTF2A1Lc.1954A>G (p.Arg652Gly)
c.*266A>G (n.*266A>G)
c.3441+16163T>C (n.3441+16163T>C)
c.*698A>G (n.*698A>G)
c.1873A>G (p.Arg625Gly)
c.276+16163T>C (n.276+16163T>C)
c.*220+6381A>G (n.*220+6381A>G)
c.997A>G (p.Arg333Gly)
c.1024A>G (p.Arg342Gly)
c.1879A>G (p.Arg627Gly)
c.1693A>G (p.Arg565Gly)
c.1612A>G (p.Arg538Gly)
c.1318A>G (p.Arg440Gly)
c.1699A>G (p.Arg567Gly)
 gnomAD v4
2g.48687843T>GCA426125151GTF2A1L,LHCGR,STON1-GTF2A1Lc.1954A>C (p.Arg652=)
c.*266A>C (n.*266A>C)
c.3441+16163T>G (n.3441+16163T>G)
c.*698A>C (n.*698A>C)
c.1873A>C (p.Arg625=)
c.276+16163T>G (n.276+16163T>G)
c.*220+6381A>C (n.*220+6381A>C)
c.997A>C (p.Arg333=)
c.1024A>C (p.Arg342=)
c.1879A>C (p.Arg627=)
c.1693A>C (p.Arg565=)
c.1612A>C (p.Arg538=)
c.1318A>C (p.Arg440=)
c.1699A>C (p.Arg567=)
 dbSNP gnomAD v2 gnomAD v4
2g.48687843T=CA1248600866GTF2A1L,LHCGR,STON1-GTF2A1Lc.1954A= (p.Arg652=)
c.*266A= (n.*266A=)
c.3441+16163T= (n.3441+16163T=)
c.*698A= (n.*698A=)
c.1873A= (p.Arg625=)
c.276+16163T= (n.276+16163T=)
c.*220+6381A= (n.*220+6381A=)
c.997A= (p.Arg333=)
c.1024A= (p.Arg342=)
c.1879A= (p.Arg627=)
c.1693A= (p.Arg565=)
c.1612A= (p.Arg538=)
c.1318A= (p.Arg440=)
c.1699A= (p.Arg567=)
2g.48687844A=CA1248600867GTF2A1L,LHCGR,STON1-GTF2A1Lc.1953T= (p.Tyr651=)
c.*265T= (n.*265T=)
c.3441+16164A= (n.3441+16164A=)
c.*697T= (n.*697T=)
c.1872T= (p.Tyr624=)
c.276+16164A= (n.276+16164A=)
c.*220+6380T= (n.*220+6380T=)
c.996T= (p.Tyr332=)
c.1023T= (p.Tyr341=)
c.1878T= (p.Tyr626=)
c.1692T= (p.Tyr564=)
c.1611T= (p.Tyr537=)
c.1317T= (p.Tyr439=)
c.1698T= (p.Tyr566=)
2g.48687844A>CCA346743584GTF2A1L,LHCGR,STON1-GTF2A1Lc.1953T>G (p.Tyr651Ter)
c.*265T>G (n.*265T>G)
c.3441+16164A>C (n.3441+16164A>C)
c.*697T>G (n.*697T>G)
c.1872T>G (p.Tyr624Ter)
c.276+16164A>C (n.276+16164A>C)
c.*220+6380T>G (n.*220+6380T>G)
c.996T>G (p.Tyr332Ter)
c.1023T>G (p.Tyr341Ter)
c.1878T>G (p.Tyr626Ter)
c.1692T>G (p.Tyr564Ter)
c.1611T>G (p.Tyr537Ter)
c.1317T>G (p.Tyr439Ter)
c.1698T>G (p.Tyr566Ter)
2g.48687844A>GCA1652959GTF2A1L,LHCGR,STON1-GTF2A1Lc.1953T>C (p.Tyr651=)
c.*265T>C (n.*265T>C)
c.3441+16164A>G (n.3441+16164A>G)
c.*697T>C (n.*697T>C)
c.1872T>C (p.Tyr624=)
c.276+16164A>G (n.276+16164A>G)
c.*220+6380T>C (n.*220+6380T>C)
c.996T>C (p.Tyr332=)
c.1023T>C (p.Tyr341=)
c.1878T>C (p.Tyr626=)
c.1692T>C (p.Tyr564=)
c.1611T>C (p.Tyr537=)
c.1317T>C (p.Tyr439=)
c.1698T>C (p.Tyr566=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687844A>TCA346743588GTF2A1L,LHCGR,STON1-GTF2A1Lc.1953T>A (p.Tyr651Ter)
c.*265T>A (n.*265T>A)
c.3441+16164A>T (n.3441+16164A>T)
c.*697T>A (n.*697T>A)
c.1872T>A (p.Tyr624Ter)
c.276+16164A>T (n.276+16164A>T)
c.*220+6380T>A (n.*220+6380T>A)
c.996T>A (p.Tyr332Ter)
c.1023T>A (p.Tyr341Ter)
c.1878T>A (p.Tyr626Ter)
c.1692T>A (p.Tyr564Ter)
c.1611T>A (p.Tyr537Ter)
c.1317T>A (p.Tyr439Ter)
c.1698T>A (p.Tyr566Ter)
 gnomAD v4
2g.48687845T>ACA346743590GTF2A1L,LHCGR,STON1-GTF2A1Lc.1952A>T (p.Tyr651Phe)
c.*264A>T (n.*264A>T)
c.3441+16165T>A (n.3441+16165T>A)
c.*696A>T (n.*696A>T)
c.1871A>T (p.Tyr624Phe)
c.276+16165T>A (n.276+16165T>A)
c.*220+6379A>T (n.*220+6379A>T)
c.995A>T (p.Tyr332Phe)
c.1022A>T (p.Tyr341Phe)
c.1877A>T (p.Tyr626Phe)
c.1691A>T (p.Tyr564Phe)
c.1610A>T (p.Tyr537Phe)
c.1316A>T (p.Tyr439Phe)
c.1697A>T (p.Tyr566Phe)
2g.48687845T>CCA346743592GTF2A1L,LHCGR,STON1-GTF2A1Lc.1952A>G (p.Tyr651Cys)
c.*264A>G (n.*264A>G)
c.3441+16165T>C (n.3441+16165T>C)
c.*696A>G (n.*696A>G)
c.1871A>G (p.Tyr624Cys)
c.276+16165T>C (n.276+16165T>C)
c.*220+6379A>G (n.*220+6379A>G)
c.995A>G (p.Tyr332Cys)
c.1022A>G (p.Tyr341Cys)
c.1877A>G (p.Tyr626Cys)
c.1691A>G (p.Tyr564Cys)
c.1610A>G (p.Tyr537Cys)
c.1316A>G (p.Tyr439Cys)
c.1697A>G (p.Tyr566Cys)
2g.48687845T>GCA346743593GTF2A1L,LHCGR,STON1-GTF2A1Lc.1952A>C (p.Tyr651Ser)
c.*264A>C (n.*264A>C)
c.3441+16165T>G (n.3441+16165T>G)
c.*696A>C (n.*696A>C)
c.1871A>C (p.Tyr624Ser)
c.276+16165T>G (n.276+16165T>G)
c.*220+6379A>C (n.*220+6379A>C)
c.995A>C (p.Tyr332Ser)
c.1022A>C (p.Tyr341Ser)
c.1877A>C (p.Tyr626Ser)
c.1691A>C (p.Tyr564Ser)
c.1610A>C (p.Tyr537Ser)
c.1316A>C (p.Tyr439Ser)
c.1697A>C (p.Tyr566Ser)
 dbSNP gnomAD v4
2g.48687845T=CA1248600868GTF2A1L,LHCGR,STON1-GTF2A1Lc.1952A= (p.Tyr651=)
c.*264A= (n.*264A=)
c.3441+16165T= (n.3441+16165T=)
c.*696A= (n.*696A=)
c.1871A= (p.Tyr624=)
c.276+16165T= (n.276+16165T=)
c.*220+6379A= (n.*220+6379A=)
c.995A= (p.Tyr332=)
c.1022A= (p.Tyr341=)
c.1877A= (p.Tyr626=)
c.1691A= (p.Tyr564=)
c.1610A= (p.Tyr537=)
c.1316A= (p.Tyr439=)
c.1697A= (p.Tyr566=)
2g.48687846A=CA1248600869GTF2A1L,LHCGR,STON1-GTF2A1Lc.1951T= (p.Tyr651=)
c.*263T= (n.*263T=)
c.3441+16166A= (n.3441+16166A=)
c.*695T= (n.*695T=)
c.1870T= (p.Tyr624=)
c.276+16166A= (n.276+16166A=)
c.*220+6378T= (n.*220+6378T=)
c.994T= (p.Tyr332=)
c.1021T= (p.Tyr341=)
c.1876T= (p.Tyr626=)
c.1690T= (p.Tyr564=)
c.1609T= (p.Tyr537=)
c.1315T= (p.Tyr439=)
c.1696T= (p.Tyr566=)
2g.48687846A>CCA346743594GTF2A1L,LHCGR,STON1-GTF2A1Lc.1951T>G (p.Tyr651Asp)
c.*263T>G (n.*263T>G)
c.3441+16166A>C (n.3441+16166A>C)
c.*695T>G (n.*695T>G)
c.1870T>G (p.Tyr624Asp)
c.276+16166A>C (n.276+16166A>C)
c.*220+6378T>G (n.*220+6378T>G)
c.994T>G (p.Tyr332Asp)
c.1021T>G (p.Tyr341Asp)
c.1876T>G (p.Tyr626Asp)
c.1690T>G (p.Tyr564Asp)
c.1609T>G (p.Tyr537Asp)
c.1315T>G (p.Tyr439Asp)
c.1696T>G (p.Tyr566Asp)
2g.48687846A>GCA346743596GTF2A1L,LHCGR,STON1-GTF2A1Lc.1951T>C (p.Tyr651His)
c.*263T>C (n.*263T>C)
c.3441+16166A>G (n.3441+16166A>G)
c.*695T>C (n.*695T>C)
c.1870T>C (p.Tyr624His)
c.276+16166A>G (n.276+16166A>G)
c.*220+6378T>C (n.*220+6378T>C)
c.994T>C (p.Tyr332His)
c.1021T>C (p.Tyr341His)
c.1876T>C (p.Tyr626His)
c.1690T>C (p.Tyr564His)
c.1609T>C (p.Tyr537His)
c.1315T>C (p.Tyr439His)
c.1696T>C (p.Tyr566His)
 dbSNP gnomAD v3 gnomAD v4
2g.48687846A>TCA346743597GTF2A1L,LHCGR,STON1-GTF2A1Lc.1951T>A (p.Tyr651Asn)
c.*263T>A (n.*263T>A)
c.3441+16166A>T (n.3441+16166A>T)
c.*695T>A (n.*695T>A)
c.1870T>A (p.Tyr624Asn)
c.276+16166A>T (n.276+16166A>T)
c.*220+6378T>A (n.*220+6378T>A)
c.994T>A (p.Tyr332Asn)
c.1021T>A (p.Tyr341Asn)
c.1876T>A (p.Tyr626Asn)
c.1690T>A (p.Tyr564Asn)
c.1609T>A (p.Tyr537Asn)
c.1315T>A (p.Tyr439Asn)
c.1696T>A (p.Tyr566Asn)
2g.48687848dupCA2658992078GTF2A1L,LHCGR,STON1-GTF2A1Lc.1951dup (p.Tyr651LeufsTer2)
c.*263dup (n.*263dup)
c.3441+16168dup (n.3441+16168dup)
c.*695dup (n.*695dup)
c.1870dup (p.Tyr624LeufsTer2)
c.276+16168dup (n.276+16168dup)
c.*220+6378dup (n.*220+6378dup)
c.994dup (p.Tyr332LeufsTer2)
c.1021dup (p.Tyr341LeufsTer2)
c.1876dup (p.Tyr626LeufsTer2)
c.1690dup (p.Tyr564LeufsTer2)
c.1609dup (p.Tyr537LeufsTer2)
c.1315dup (p.Tyr439LeufsTer2)
c.1696dup (p.Tyr566LeufsTer2)
 gnomAD v4
2g.48687847A>CCA426125159GTF2A1L,LHCGR,STON1-GTF2A1Lc.1950T>G (p.Leu650=)
c.*262T>G (n.*262T>G)
c.3441+16167A>C (n.3441+16167A>C)
c.*694T>G (n.*694T>G)
c.1869T>G (p.Leu623=)
c.276+16167A>C (n.276+16167A>C)
c.*220+6377T>G (n.*220+6377T>G)
c.993T>G (p.Leu331=)
c.1020T>G (p.Leu340=)
c.1875T>G (p.Leu625=)
c.1689T>G (p.Leu563=)
c.1608T>G (p.Leu536=)
c.1314T>G (p.Leu438=)
c.1695T>G (p.Leu565=)
2g.48687847A>GCA426125160GTF2A1L,LHCGR,STON1-GTF2A1Lc.1950T>C (p.Leu650=)
c.*262T>C (n.*262T>C)
c.3441+16167A>G (n.3441+16167A>G)
c.*694T>C (n.*694T>C)
c.1869T>C (p.Leu623=)
c.276+16167A>G (n.276+16167A>G)
c.*220+6377T>C (n.*220+6377T>C)
c.993T>C (p.Leu331=)
c.1020T>C (p.Leu340=)
c.1875T>C (p.Leu625=)
c.1689T>C (p.Leu563=)
c.1608T>C (p.Leu536=)
c.1314T>C (p.Leu438=)
c.1695T>C (p.Leu565=)
2g.48687847A>TCA426125161GTF2A1L,LHCGR,STON1-GTF2A1Lc.1950T>A (p.Leu650=)
c.*262T>A (n.*262T>A)
c.3441+16167A>T (n.3441+16167A>T)
c.*694T>A (n.*694T>A)
c.1869T>A (p.Leu623=)
c.276+16167A>T (n.276+16167A>T)
c.*220+6377T>A (n.*220+6377T>A)
c.993T>A (p.Leu331=)
c.1020T>A (p.Leu340=)
c.1875T>A (p.Leu625=)
c.1689T>A (p.Leu563=)
c.1608T>A (p.Leu536=)
c.1314T>A (p.Leu438=)
c.1695T>A (p.Leu565=)
 gnomAD v4
2g.48687848A>CCA346743605GTF2A1L,LHCGR,STON1-GTF2A1Lc.1949T>G (p.Leu650Arg)
c.*261T>G (n.*261T>G)
c.3441+16168A>C (n.3441+16168A>C)
c.*693T>G (n.*693T>G)
c.1868T>G (p.Leu623Arg)
c.276+16168A>C (n.276+16168A>C)
c.*220+6376T>G (n.*220+6376T>G)
c.992T>G (p.Leu331Arg)
c.1019T>G (p.Leu340Arg)
c.1874T>G (p.Leu625Arg)
c.1688T>G (p.Leu563Arg)
c.1607T>G (p.Leu536Arg)
c.1313T>G (p.Leu438Arg)
c.1694T>G (p.Leu565Arg)
2g.48687848A>GCA346743603GTF2A1L,LHCGR,STON1-GTF2A1Lc.1949T>C (p.Leu650Pro)
c.*261T>C (n.*261T>C)
c.3441+16168A>G (n.3441+16168A>G)
c.*693T>C (n.*693T>C)
c.1868T>C (p.Leu623Pro)
c.276+16168A>G (n.276+16168A>G)
c.*220+6376T>C (n.*220+6376T>C)
c.992T>C (p.Leu331Pro)
c.1019T>C (p.Leu340Pro)
c.1874T>C (p.Leu625Pro)
c.1688T>C (p.Leu563Pro)
c.1607T>C (p.Leu536Pro)
c.1313T>C (p.Leu438Pro)
c.1694T>C (p.Leu565Pro)
2g.48687848A>TCA346743601GTF2A1L,LHCGR,STON1-GTF2A1Lc.1949T>A (p.Leu650His)
c.*261T>A (n.*261T>A)
c.3441+16168A>T (n.3441+16168A>T)
c.*693T>A (n.*693T>A)
c.1868T>A (p.Leu623His)
c.276+16168A>T (n.276+16168A>T)
c.*220+6376T>A (n.*220+6376T>A)
c.992T>A (p.Leu331His)
c.1019T>A (p.Leu340His)
c.1874T>A (p.Leu625His)
c.1688T>A (p.Leu563His)
c.1607T>A (p.Leu536His)
c.1313T>A (p.Leu438His)
c.1694T>A (p.Leu565His)
 COSMIC
2g.48687849G>ACA346743609GTF2A1L,LHCGR,STON1-GTF2A1Lc.1948C>T (p.Leu650Phe)
c.*260C>T (n.*260C>T)
c.3441+16169G>A (n.3441+16169G>A)
c.*692C>T (n.*692C>T)
c.1867C>T (p.Leu623Phe)
c.276+16169G>A (n.276+16169G>A)
c.*220+6375C>T (n.*220+6375C>T)
c.991C>T (p.Leu331Phe)
c.1018C>T (p.Leu340Phe)
c.1873C>T (p.Leu625Phe)
c.1687C>T (p.Leu563Phe)
c.1606C>T (p.Leu536Phe)
c.1312C>T (p.Leu438Phe)
c.1693C>T (p.Leu565Phe)
2g.48687849G>CCA346743611GTF2A1L,LHCGR,STON1-GTF2A1Lc.1948C>G (p.Leu650Val)
c.*260C>G (n.*260C>G)
c.3441+16169G>C (n.3441+16169G>C)
c.*692C>G (n.*692C>G)
c.1867C>G (p.Leu623Val)
c.276+16169G>C (n.276+16169G>C)
c.*220+6375C>G (n.*220+6375C>G)
c.991C>G (p.Leu331Val)
c.1018C>G (p.Leu340Val)
c.1873C>G (p.Leu625Val)
c.1687C>G (p.Leu563Val)
c.1606C>G (p.Leu536Val)
c.1312C>G (p.Leu438Val)
c.1693C>G (p.Leu565Val)
2g.48687849G=CA1248600870GTF2A1L,LHCGR,STON1-GTF2A1Lc.1948C= (p.Leu650=)
c.*260C= (n.*260C=)
c.3441+16169G= (n.3441+16169G=)
c.*692C= (n.*692C=)
c.1867C= (p.Leu623=)
c.276+16169G= (n.276+16169G=)
c.*220+6375C= (n.*220+6375C=)
c.991C= (p.Leu331=)
c.1018C= (p.Leu340=)
c.1873C= (p.Leu625=)
c.1687C= (p.Leu563=)
c.1606C= (p.Leu536=)
c.1312C= (p.Leu438=)
c.1693C= (p.Leu565=)
2g.48687849G>TCA1652960GTF2A1L,LHCGR,STON1-GTF2A1Lc.1948C>A (p.Leu650Ile)
c.*260C>A (n.*260C>A)
c.3441+16169G>T (n.3441+16169G>T)
c.*692C>A (n.*692C>A)
c.1867C>A (p.Leu623Ile)
c.276+16169G>T (n.276+16169G>T)
c.*220+6375C>A (n.*220+6375C>A)
c.991C>A (p.Leu331Ile)
c.1018C>A (p.Leu340Ile)
c.1873C>A (p.Leu625Ile)
c.1687C>A (p.Leu563Ile)
c.1606C>A (p.Leu536Ile)
c.1312C>A (p.Leu438Ile)
c.1693C>A (p.Leu565Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687849_48687850delinsGTCA1248600871GTF2A1L,LHCGR,STON1-GTF2A1Lc.1947_1948delinsAC (p.Glu649=)
c.*259_*260delinsAC (n.*259_*260delinsAC)
c.3441+16169_3441+16170delinsGT (n.3441+16169_3441+16170delinsGT)
c.*691_*692delinsAC (n.*691_*692delinsAC)
c.1866_1867delinsAC (p.Glu622=)
c.276+16169_276+16170delinsGT (n.276+16169_276+16170delinsGT)
c.*220+6374_*220+6375delinsAC (n.*220+6374_*220+6375delinsAC)
c.990_991delinsAC (p.Glu330=)
c.1017_1018delinsAC (p.Glu339=)
c.1872_1873delinsAC (p.Glu624=)
c.1686_1687delinsAC (p.Glu562=)
c.1605_1606delinsAC (p.Glu535=)
c.1311_1312delinsAC (p.Glu437=)
c.1692_1693delinsAC (p.Glu564=)
2g.48687850T>ACA346743614GTF2A1L,LHCGR,STON1-GTF2A1Lc.1947A>T (p.Glu649Asp)
c.*259A>T (n.*259A>T)
c.3441+16170T>A (n.3441+16170T>A)
c.*691A>T (n.*691A>T)
c.1866A>T (p.Glu622Asp)
c.276+16170T>A (n.276+16170T>A)
c.*220+6374A>T (n.*220+6374A>T)
c.990A>T (p.Glu330Asp)
c.1017A>T (p.Glu339Asp)
c.1872A>T (p.Glu624Asp)
c.1686A>T (p.Glu562Asp)
c.1605A>T (p.Glu535Asp)
c.1311A>T (p.Glu437Asp)
c.1692A>T (p.Glu564Asp)
2g.48687850T>CCA426125167GTF2A1L,LHCGR,STON1-GTF2A1Lc.1947A>G (p.Glu649=)
c.*259A>G (n.*259A>G)
c.3441+16170T>C (n.3441+16170T>C)
c.*691A>G (n.*691A>G)
c.1866A>G (p.Glu622=)
c.276+16170T>C (n.276+16170T>C)
c.*220+6374A>G (n.*220+6374A>G)
c.990A>G (p.Glu330=)
c.1017A>G (p.Glu339=)
c.1872A>G (p.Glu624=)
c.1686A>G (p.Glu562=)
c.1605A>G (p.Glu535=)
c.1311A>G (p.Glu437=)
c.1692A>G (p.Glu564=)
2g.48687850T>GCA346743617GTF2A1L,LHCGR,STON1-GTF2A1Lc.1947A>C (p.Glu649Asp)
c.*259A>C (n.*259A>C)
c.3441+16170T>G (n.3441+16170T>G)
c.*691A>C (n.*691A>C)
c.1866A>C (p.Glu622Asp)
c.276+16170T>G (n.276+16170T>G)
c.*220+6374A>C (n.*220+6374A>C)
c.990A>C (p.Glu330Asp)
c.1017A>C (p.Glu339Asp)
c.1872A>C (p.Glu624Asp)
c.1686A>C (p.Glu562Asp)
c.1605A>C (p.Glu535Asp)
c.1311A>C (p.Glu437Asp)
c.1692A>C (p.Glu564Asp)
2g.48687851delCA532706157GTF2A1L,LHCGR,STON1-GTF2A1Lc.1947del (p.Glu649AspfsTer30)
c.*259del (n.*259del)
c.3441+16171del (n.3441+16171del)
c.*691del (n.*691del)
c.1866del (p.Glu622AspfsTer30)
c.276+16171del (n.276+16171del)
c.*220+6374del (n.*220+6374del)
c.990del (p.Glu330AspfsTer30)
c.1017del (p.Glu339AspfsTer30)
c.1872del (p.Glu624AspfsTer30)
c.1686del (p.Glu562AspfsTer30)
c.1605del (p.Glu535AspfsTer30)
c.1311del (p.Glu437AspfsTer30)
c.1692del (p.Glu564AspfsTer30)
 dbSNP gnomAD v2 gnomAD v4
2g.48687851T>ACA346743625GTF2A1L,LHCGR,STON1-GTF2A1Lc.1946A>T (p.Glu649Val)
c.*258A>T (n.*258A>T)
c.3441+16171T>A (n.3441+16171T>A)
c.*690A>T (n.*690A>T)
c.1865A>T (p.Glu622Val)
c.276+16171T>A (n.276+16171T>A)
c.*220+6373A>T (n.*220+6373A>T)
c.989A>T (p.Glu330Val)
c.1016A>T (p.Glu339Val)
c.1871A>T (p.Glu624Val)
c.1685A>T (p.Glu562Val)
c.1604A>T (p.Glu535Val)
c.1310A>T (p.Glu437Val)
c.1691A>T (p.Glu564Val)
2g.48687851T>CCA346743622GTF2A1L,LHCGR,STON1-GTF2A1Lc.1946A>G (p.Glu649Gly)
c.*258A>G (n.*258A>G)
c.3441+16171T>C (n.3441+16171T>C)
c.*690A>G (n.*690A>G)
c.1865A>G (p.Glu622Gly)
c.276+16171T>C (n.276+16171T>C)
c.*220+6373A>G (n.*220+6373A>G)
c.989A>G (p.Glu330Gly)
c.1016A>G (p.Glu339Gly)
c.1871A>G (p.Glu624Gly)
c.1685A>G (p.Glu562Gly)
c.1604A>G (p.Glu535Gly)
c.1310A>G (p.Glu437Gly)
c.1691A>G (p.Glu564Gly)
2g.48687851T>GCA346743620GTF2A1L,LHCGR,STON1-GTF2A1Lc.1946A>C (p.Glu649Ala)
c.*258A>C (n.*258A>C)
c.3441+16171T>G (n.3441+16171T>G)
c.*690A>C (n.*690A>C)
c.1865A>C (p.Glu622Ala)
c.276+16171T>G (n.276+16171T>G)
c.*220+6373A>C (n.*220+6373A>C)
c.989A>C (p.Glu330Ala)
c.1016A>C (p.Glu339Ala)
c.1871A>C (p.Glu624Ala)
c.1685A>C (p.Glu562Ala)
c.1604A>C (p.Glu535Ala)
c.1310A>C (p.Glu437Ala)
c.1691A>C (p.Glu564Ala)
2g.48687852C>ACA346743629GTF2A1L,LHCGR,STON1-GTF2A1Lc.1945G>T (p.Glu649Ter)
c.*257G>T (n.*257G>T)
c.3441+16172C>A (n.3441+16172C>A)
c.*689G>T (n.*689G>T)
c.1864G>T (p.Glu622Ter)
c.276+16172C>A (n.276+16172C>A)
c.*220+6372G>T (n.*220+6372G>T)
c.988G>T (p.Glu330Ter)
c.1015G>T (p.Glu339Ter)
c.1870G>T (p.Glu624Ter)
c.1684G>T (p.Glu562Ter)
c.1603G>T (p.Glu535Ter)
c.1309G>T (p.Glu437Ter)
c.1690G>T (p.Glu564Ter)
2g.48687852C=CA1248600872GTF2A1L,LHCGR,STON1-GTF2A1Lc.1945G= (p.Glu649=)
c.*257G= (n.*257G=)
c.3441+16172C= (n.3441+16172C=)
c.*689G= (n.*689G=)
c.1864G= (p.Glu622=)
c.276+16172C= (n.276+16172C=)
c.*220+6372G= (n.*220+6372G=)
c.988G= (p.Glu330=)
c.1015G= (p.Glu339=)
c.1870G= (p.Glu624=)
c.1684G= (p.Glu562=)
c.1603G= (p.Glu535=)
c.1309G= (p.Glu437=)
c.1690G= (p.Glu564=)
2g.48687852C>GCA346743632GTF2A1L,LHCGR,STON1-GTF2A1Lc.1945G>C (p.Glu649Gln)
c.*257G>C (n.*257G>C)
c.3441+16172C>G (n.3441+16172C>G)
c.*689G>C (n.*689G>C)
c.1864G>C (p.Glu622Gln)
c.276+16172C>G (n.276+16172C>G)
c.*220+6372G>C (n.*220+6372G>C)
c.988G>C (p.Glu330Gln)
c.1015G>C (p.Glu339Gln)
c.1870G>C (p.Glu624Gln)
c.1684G>C (p.Glu562Gln)
c.1603G>C (p.Glu535Gln)
c.1309G>C (p.Glu437Gln)
c.1690G>C (p.Glu564Gln)
2g.48687852C>TCA346743634GTF2A1L,LHCGR,STON1-GTF2A1Lc.1945G>A (p.Glu649Lys)
c.*257G>A (n.*257G>A)
c.3441+16172C>T (n.3441+16172C>T)
c.*689G>A (n.*689G>A)
c.1864G>A (p.Glu622Lys)
c.276+16172C>T (n.276+16172C>T)
c.*220+6372G>A (n.*220+6372G>A)
c.988G>A (p.Glu330Lys)
c.1015G>A (p.Glu339Lys)
c.1870G>A (p.Glu624Lys)
c.1684G>A (p.Glu562Lys)
c.1603G>A (p.Glu535Lys)
c.1309G>A (p.Glu437Lys)
c.1690G>A (p.Glu564Lys)
 dbSNP
2g.48687853A>CCA426125176GTF2A1L,LHCGR,STON1-GTF2A1Lc.1944T>G (p.Ala648=)
c.*256T>G (n.*256T>G)
c.3441+16173A>C (n.3441+16173A>C)
c.*688T>G (n.*688T>G)
c.1863T>G (p.Ala621=)
c.276+16173A>C (n.276+16173A>C)
c.*220+6371T>G (n.*220+6371T>G)
c.987T>G (p.Ala329=)
c.1014T>G (p.Ala338=)
c.1869T>G (p.Ala623=)
c.1683T>G (p.Ala561=)
c.1602T>G (p.Ala534=)
c.1308T>G (p.Ala436=)
c.1689T>G (p.Ala563=)
2g.48687853A>GCA426125177GTF2A1L,LHCGR,STON1-GTF2A1Lc.1944T>C (p.Ala648=)
c.*256T>C (n.*256T>C)
c.3441+16173A>G (n.3441+16173A>G)
c.*688T>C (n.*688T>C)
c.1863T>C (p.Ala621=)
c.276+16173A>G (n.276+16173A>G)
c.*220+6371T>C (n.*220+6371T>C)
c.987T>C (p.Ala329=)
c.1014T>C (p.Ala338=)
c.1869T>C (p.Ala623=)
c.1683T>C (p.Ala561=)
c.1602T>C (p.Ala534=)
c.1308T>C (p.Ala436=)
c.1689T>C (p.Ala563=)
 gnomAD v4
2g.48687853A>TCA426125178GTF2A1L,LHCGR,STON1-GTF2A1Lc.1944T>A (p.Ala648=)
c.*256T>A (n.*256T>A)
c.3441+16173A>T (n.3441+16173A>T)
c.*688T>A (n.*688T>A)
c.1863T>A (p.Ala621=)
c.276+16173A>T (n.276+16173A>T)
c.*220+6371T>A (n.*220+6371T>A)
c.987T>A (p.Ala329=)
c.1014T>A (p.Ala338=)
c.1869T>A (p.Ala623=)
c.1683T>A (p.Ala561=)
c.1602T>A (p.Ala534=)
c.1308T>A (p.Ala436=)
c.1689T>A (p.Ala563=)
2g.48687854G>ACA346743636GTF2A1L,LHCGR,STON1-GTF2A1Lc.1943C>T (p.Ala648Val)
c.*255C>T (n.*255C>T)
c.3441+16174G>A (n.3441+16174G>A)
c.*687C>T (n.*687C>T)
c.1862C>T (p.Ala621Val)
c.276+16174G>A (n.276+16174G>A)
c.*220+6370C>T (n.*220+6370C>T)
c.986C>T (p.Ala329Val)
c.1013C>T (p.Ala338Val)
c.1868C>T (p.Ala623Val)
c.1682C>T (p.Ala561Val)
c.1601C>T (p.Ala534Val)
c.1307C>T (p.Ala436Val)
c.1688C>T (p.Ala563Val)
2g.48687854G>CCA346743639GTF2A1L,LHCGR,STON1-GTF2A1Lc.1943C>G (p.Ala648Gly)
c.*255C>G (n.*255C>G)
c.3441+16174G>C (n.3441+16174G>C)
c.*687C>G (n.*687C>G)
c.1862C>G (p.Ala621Gly)
c.276+16174G>C (n.276+16174G>C)
c.*220+6370C>G (n.*220+6370C>G)
c.986C>G (p.Ala329Gly)
c.1013C>G (p.Ala338Gly)
c.1868C>G (p.Ala623Gly)
c.1682C>G (p.Ala561Gly)
c.1601C>G (p.Ala534Gly)
c.1307C>G (p.Ala436Gly)
c.1688C>G (p.Ala563Gly)
 dbSNP gnomAD v4
2g.48687854G=CA1248600873GTF2A1L,LHCGR,STON1-GTF2A1Lc.1943C= (p.Ala648=)
c.*255C= (n.*255C=)
c.3441+16174G= (n.3441+16174G=)
c.*687C= (n.*687C=)
c.1862C= (p.Ala621=)
c.276+16174G= (n.276+16174G=)
c.*220+6370C= (n.*220+6370C=)
c.986C= (p.Ala329=)
c.1013C= (p.Ala338=)
c.1868C= (p.Ala623=)
c.1682C= (p.Ala561=)
c.1601C= (p.Ala534=)
c.1307C= (p.Ala436=)
c.1688C= (p.Ala563=)
2g.48687854G>TCA1652961GTF2A1L,LHCGR,STON1-GTF2A1Lc.1943C>A (p.Ala648Asp)
c.*255C>A (n.*255C>A)
c.3441+16174G>T (n.3441+16174G>T)
c.*687C>A (n.*687C>A)
c.1862C>A (p.Ala621Asp)
c.276+16174G>T (n.276+16174G>T)
c.*220+6370C>A (n.*220+6370C>A)
c.986C>A (p.Ala329Asp)
c.1013C>A (p.Ala338Asp)
c.1868C>A (p.Ala623Asp)
c.1682C>A (p.Ala561Asp)
c.1601C>A (p.Ala534Asp)
c.1307C>A (p.Ala436Asp)
c.1688C>A (p.Ala563Asp)
 dbSNP ExAC gnomAD v2
2g.48687855C>ACA346743643GTF2A1L,LHCGR,STON1-GTF2A1Lc.1942G>T (p.Ala648Ser)
c.*254G>T (n.*254G>T)
c.3441+16175C>A (n.3441+16175C>A)
c.*686G>T (n.*686G>T)
c.1861G>T (p.Ala621Ser)
c.276+16175C>A (n.276+16175C>A)
c.*220+6369G>T (n.*220+6369G>T)
c.985G>T (p.Ala329Ser)
c.1012G>T (p.Ala338Ser)
c.1867G>T (p.Ala623Ser)
c.1681G>T (p.Ala561Ser)
c.1600G>T (p.Ala534Ser)
c.1306G>T (p.Ala436Ser)
c.1687G>T (p.Ala563Ser)
2g.48687855C>GCA346743648GTF2A1L,LHCGR,STON1-GTF2A1Lc.1942G>C (p.Ala648Pro)
c.*254G>C (n.*254G>C)
c.3441+16175C>G (n.3441+16175C>G)
c.*686G>C (n.*686G>C)
c.1861G>C (p.Ala621Pro)
c.276+16175C>G (n.276+16175C>G)
c.*220+6369G>C (n.*220+6369G>C)
c.985G>C (p.Ala329Pro)
c.1012G>C (p.Ala338Pro)
c.1867G>C (p.Ala623Pro)
c.1681G>C (p.Ala561Pro)
c.1600G>C (p.Ala534Pro)
c.1306G>C (p.Ala436Pro)
c.1687G>C (p.Ala563Pro)
2g.48687855C>TCA346743645GTF2A1L,LHCGR,STON1-GTF2A1Lc.1942G>A (p.Ala648Thr)
c.*254G>A (n.*254G>A)
c.3441+16175C>T (n.3441+16175C>T)
c.*686G>A (n.*686G>A)
c.1861G>A (p.Ala621Thr)
c.276+16175C>T (n.276+16175C>T)
c.*220+6369G>A (n.*220+6369G>A)
c.985G>A (p.Ala329Thr)
c.1012G>A (p.Ala338Thr)
c.1867G>A (p.Ala623Thr)
c.1681G>A (p.Ala561Thr)
c.1600G>A (p.Ala534Thr)
c.1306G>A (p.Ala436Thr)
c.1687G>A (p.Ala563Thr)
2g.48687856C>ACA426125182GTF2A1L,LHCGR,STON1-GTF2A1Lc.1941G>T (p.Arg647=)
c.*253G>T (n.*253G>T)
c.3441+16176C>A (n.3441+16176C>A)
c.*685G>T (n.*685G>T)
c.1860G>T (p.Arg620=)
c.276+16176C>A (n.276+16176C>A)
c.*220+6368G>T (n.*220+6368G>T)
c.984G>T (p.Arg328=)
c.1011G>T (p.Arg337=)
c.1866G>T (p.Arg622=)
c.1680G>T (p.Arg560=)
c.1599G>T (p.Arg533=)
c.1305G>T (p.Arg435=)
c.1686G>T (p.Arg562=)
2g.48687856C=CA1248600874GTF2A1L,LHCGR,STON1-GTF2A1Lc.1941G= (p.Arg647=)
c.*253G= (n.*253G=)
c.3441+16176C= (n.3441+16176C=)
c.*685G= (n.*685G=)
c.1860G= (p.Arg620=)
c.276+16176C= (n.276+16176C=)
c.*220+6368G= (n.*220+6368G=)
c.984G= (p.Arg328=)
c.1011G= (p.Arg337=)
c.1866G= (p.Arg622=)
c.1680G= (p.Arg560=)
c.1599G= (p.Arg533=)
c.1305G= (p.Arg435=)
c.1686G= (p.Arg562=)
2g.48687856C>GCA426125184GTF2A1L,LHCGR,STON1-GTF2A1Lc.1941G>C (p.Arg647=)
c.*253G>C (n.*253G>C)
c.3441+16176C>G (n.3441+16176C>G)
c.*685G>C (n.*685G>C)
c.1860G>C (p.Arg620=)
c.276+16176C>G (n.276+16176C>G)
c.*220+6368G>C (n.*220+6368G>C)
c.984G>C (p.Arg328=)
c.1011G>C (p.Arg337=)
c.1866G>C (p.Arg622=)
c.1680G>C (p.Arg560=)
c.1599G>C (p.Arg533=)
c.1305G>C (p.Arg435=)
c.1686G>C (p.Arg562=)
 dbSNP
2g.48687856C>TCA426125185GTF2A1L,LHCGR,STON1-GTF2A1Lc.1941G>A (p.Arg647=)
c.*253G>A (n.*253G>A)
c.3441+16176C>T (n.3441+16176C>T)
c.*685G>A (n.*685G>A)
c.1860G>A (p.Arg620=)
c.276+16176C>T (n.276+16176C>T)
c.*220+6368G>A (n.*220+6368G>A)
c.984G>A (p.Arg328=)
c.1011G>A (p.Arg337=)
c.1866G>A (p.Arg622=)
c.1680G>A (p.Arg560=)
c.1599G>A (p.Arg533=)
c.1305G>A (p.Arg435=)
c.1686G>A (p.Arg562=)
 COSMIC
2g.48687857C>ACA346743651GTF2A1L,LHCGR,STON1-GTF2A1Lc.1940G>T (p.Arg647Leu)
c.*252G>T (n.*252G>T)
c.3441+16177C>A (n.3441+16177C>A)
c.*684G>T (n.*684G>T)
c.1859G>T (p.Arg620Leu)
c.276+16177C>A (n.276+16177C>A)
c.*220+6367G>T (n.*220+6367G>T)
c.983G>T (p.Arg328Leu)
c.1010G>T (p.Arg337Leu)
c.1865G>T (p.Arg622Leu)
c.1679G>T (p.Arg560Leu)
c.1598G>T (p.Arg533Leu)
c.1304G>T (p.Arg435Leu)
c.1685G>T (p.Arg562Leu)
2g.48687857C=CA1248600875GTF2A1L,LHCGR,STON1-GTF2A1Lc.1940G= (p.Arg647=)
c.*252G= (n.*252G=)
c.3441+16177C= (n.3441+16177C=)
c.*684G= (n.*684G=)
c.1859G= (p.Arg620=)
c.276+16177C= (n.276+16177C=)
c.*220+6367G= (n.*220+6367G=)
c.983G= (p.Arg328=)
c.1010G= (p.Arg337=)
c.1865G= (p.Arg622=)
c.1679G= (p.Arg560=)
c.1598G= (p.Arg533=)
c.1304G= (p.Arg435=)
c.1685G= (p.Arg562=)
2g.48687857C>GCA1652963GTF2A1L,LHCGR,STON1-GTF2A1Lc.1940G>C (p.Arg647Pro)
c.*252G>C (n.*252G>C)
c.3441+16177C>G (n.3441+16177C>G)
c.*684G>C (n.*684G>C)
c.1859G>C (p.Arg620Pro)
c.276+16177C>G (n.276+16177C>G)
c.*220+6367G>C (n.*220+6367G>C)
c.983G>C (p.Arg328Pro)
c.1010G>C (p.Arg337Pro)
c.1865G>C (p.Arg622Pro)
c.1679G>C (p.Arg560Pro)
c.1598G>C (p.Arg533Pro)
c.1304G>C (p.Arg435Pro)
c.1685G>C (p.Arg562Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687857C>TCA1652962GTF2A1L,LHCGR,STON1-GTF2A1Lc.1940G>A (p.Arg647Gln)
c.*252G>A (n.*252G>A)
c.3441+16177C>T (n.3441+16177C>T)
c.*684G>A (n.*684G>A)
c.1859G>A (p.Arg620Gln)
c.276+16177C>T (n.276+16177C>T)
c.*220+6367G>A (n.*220+6367G>A)
c.983G>A (p.Arg328Gln)
c.1010G>A (p.Arg337Gln)
c.1865G>A (p.Arg622Gln)
c.1679G>A (p.Arg560Gln)
c.1598G>A (p.Arg533Gln)
c.1304G>A (p.Arg435Gln)
c.1685G>A (p.Arg562Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687858G>ACA1652964GTF2A1L,LHCGR,STON1-GTF2A1Lc.1939C>T (p.Arg647Trp)
c.*251C>T (n.*251C>T)
c.3441+16178G>A (n.3441+16178G>A)
c.*683C>T (n.*683C>T)
c.1858C>T (p.Arg620Trp)
c.276+16178G>A (n.276+16178G>A)
c.*220+6366C>T (n.*220+6366C>T)
c.982C>T (p.Arg328Trp)
c.1009C>T (p.Arg337Trp)
c.1864C>T (p.Arg622Trp)
c.1678C>T (p.Arg560Trp)
c.1597C>T (p.Arg533Trp)
c.1303C>T (p.Arg435Trp)
c.1684C>T (p.Arg562Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.48687858G>CCA346743654GTF2A1L,LHCGR,STON1-GTF2A1Lc.1939C>G (p.Arg647Gly)
c.*251C>G (n.*251C>G)
c.3441+16178G>C (n.3441+16178G>C)
c.*683C>G (n.*683C>G)
c.1858C>G (p.Arg620Gly)
c.276+16178G>C (n.276+16178G>C)
c.*220+6366C>G (n.*220+6366C>G)
c.982C>G (p.Arg328Gly)
c.1009C>G (p.Arg337Gly)
c.1864C>G (p.Arg622Gly)
c.1678C>G (p.Arg560Gly)
c.1597C>G (p.Arg533Gly)
c.1303C>G (p.Arg435Gly)
c.1684C>G (p.Arg562Gly)
2g.48687858G=CA1248600876GTF2A1L,LHCGR,STON1-GTF2A1Lc.1939C= (p.Arg647=)
c.*251C= (n.*251C=)
c.3441+16178G= (n.3441+16178G=)
c.*683C= (n.*683C=)
c.1858C= (p.Arg620=)
c.276+16178G= (n.276+16178G=)
c.*220+6366C= (n.*220+6366C=)
c.982C= (p.Arg328=)
c.1009C= (p.Arg337=)
c.1864C= (p.Arg622=)
c.1678C= (p.Arg560=)
c.1597C= (p.Arg533=)
c.1303C= (p.Arg435=)
c.1684C= (p.Arg562=)
2g.48687858G>TCA426125191GTF2A1L,LHCGR,STON1-GTF2A1Lc.1939C>A (p.Arg647=)
c.*251C>A (n.*251C>A)
c.3441+16178G>T (n.3441+16178G>T)
c.*683C>A (n.*683C>A)
c.1858C>A (p.Arg620=)
c.276+16178G>T (n.276+16178G>T)
c.*220+6366C>A (n.*220+6366C>A)
c.982C>A (p.Arg328=)
c.1009C>A (p.Arg337=)
c.1864C>A (p.Arg622=)
c.1678C>A (p.Arg560=)
c.1597C>A (p.Arg533=)
c.1303C>A (p.Arg435=)
c.1684C>A (p.Arg562=)
 gnomAD v4
2g.48687859A=CA1248600877GTF2A1L,LHCGR,STON1-GTF2A1Lc.1938T= (p.Arg646=)
c.*250T= (n.*250T=)
c.3441+16179A= (n.3441+16179A=)
c.*682T= (n.*682T=)
c.1857T= (p.Arg619=)
c.276+16179A= (n.276+16179A=)
c.*220+6365T= (n.*220+6365T=)
c.981T= (p.Arg327=)
c.1008T= (p.Arg336=)
c.1863T= (p.Arg621=)
c.1677T= (p.Arg559=)
c.1596T= (p.Arg532=)
c.1302T= (p.Arg434=)
c.1683T= (p.Arg561=)
2g.48687859A>CCA426125197GTF2A1L,LHCGR,STON1-GTF2A1Lc.1938T>G (p.Arg646=)
c.*250T>G (n.*250T>G)
c.3441+16179A>C (n.3441+16179A>C)
c.*682T>G (n.*682T>G)
c.1857T>G (p.Arg619=)
c.276+16179A>C (n.276+16179A>C)
c.*220+6365T>G (n.*220+6365T>G)
c.981T>G (p.Arg327=)
c.1008T>G (p.Arg336=)
c.1863T>G (p.Arg621=)
c.1677T>G (p.Arg559=)
c.1596T>G (p.Arg532=)
c.1302T>G (p.Arg434=)
c.1683T>G (p.Arg561=)
2g.48687859A>GCA426125194GTF2A1L,LHCGR,STON1-GTF2A1Lc.1938T>C (p.Arg646=)
c.*250T>C (n.*250T>C)
c.3441+16179A>G (n.3441+16179A>G)
c.*682T>C (n.*682T>C)
c.1857T>C (p.Arg619=)
c.276+16179A>G (n.276+16179A>G)
c.*220+6365T>C (n.*220+6365T>C)
c.981T>C (p.Arg327=)
c.1008T>C (p.Arg336=)
c.1863T>C (p.Arg621=)
c.1677T>C (p.Arg559=)
c.1596T>C (p.Arg532=)
c.1302T>C (p.Arg434=)
c.1683T>C (p.Arg561=)
 dbSNP gnomAD v2 gnomAD v4
2g.48687859A>TCA426125195GTF2A1L,LHCGR,STON1-GTF2A1Lc.1938T>A (p.Arg646=)
c.*250T>A (n.*250T>A)
c.3441+16179A>T (n.3441+16179A>T)
c.*682T>A (n.*682T>A)
c.1857T>A (p.Arg619=)
c.276+16179A>T (n.276+16179A>T)
c.*220+6365T>A (n.*220+6365T>A)
c.981T>A (p.Arg327=)
c.1008T>A (p.Arg336=)
c.1863T>A (p.Arg621=)
c.1677T>A (p.Arg559=)
c.1596T>A (p.Arg532=)
c.1302T>A (p.Arg434=)
c.1683T>A (p.Arg561=)
2g.48687860C>ACA46752545GTF2A1L,LHCGR,STON1-GTF2A1Lc.1937G>T (p.Arg646Leu)
c.*249G>T (n.*249G>T)
c.3441+16180C>A (n.3441+16180C>A)
c.*681G>T (n.*681G>T)
c.1856G>T (p.Arg619Leu)
c.276+16180C>A (n.276+16180C>A)
c.*220+6364G>T (n.*220+6364G>T)
c.980G>T (p.Arg327Leu)
c.1007G>T (p.Arg336Leu)
c.1862G>T (p.Arg621Leu)
c.1676G>T (p.Arg559Leu)
c.1595G>T (p.Arg532Leu)
c.1301G>T (p.Arg434Leu)
c.1682G>T (p.Arg561Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48687860C=CA1248600878GTF2A1L,LHCGR,STON1-GTF2A1Lc.1937G= (p.Arg646=)
c.*249G= (n.*249G=)
c.3441+16180C= (n.3441+16180C=)
c.*681G= (n.*681G=)
c.1856G= (p.Arg619=)
c.276+16180C= (n.276+16180C=)
c.*220+6364G= (n.*220+6364G=)
c.980G= (p.Arg327=)
c.1007G= (p.Arg336=)
c.1862G= (p.Arg621=)
c.1676G= (p.Arg559=)
c.1595G= (p.Arg532=)
c.1301G= (p.Arg434=)
c.1682G= (p.Arg561=)
2g.48687860C>GCA346743660GTF2A1L,LHCGR,STON1-GTF2A1Lc.1937G>C (p.Arg646Pro)
c.*249G>C (n.*249G>C)
c.3441+16180C>G (n.3441+16180C>G)
c.*681G>C (n.*681G>C)
c.1856G>C (p.Arg619Pro)
c.276+16180C>G (n.276+16180C>G)
c.*220+6364G>C (n.*220+6364G>C)
c.980G>C (p.Arg327Pro)
c.1007G>C (p.Arg336Pro)
c.1862G>C (p.Arg621Pro)
c.1676G>C (p.Arg559Pro)
c.1595G>C (p.Arg532Pro)
c.1301G>C (p.Arg434Pro)
c.1682G>C (p.Arg561Pro)
2g.48687860C>TCA1652965GTF2A1L,LHCGR,STON1-GTF2A1Lc.1937G>A (p.Arg646His)
c.*249G>A (n.*249G>A)
c.3441+16180C>T (n.3441+16180C>T)
c.*681G>A (n.*681G>A)
c.1856G>A (p.Arg619His)
c.276+16180C>T (n.276+16180C>T)
c.*220+6364G>A (n.*220+6364G>A)
c.980G>A (p.Arg327His)
c.1007G>A (p.Arg336His)
c.1862G>A (p.Arg621His)
c.1676G>A (p.Arg559His)
c.1595G>A (p.Arg532His)
c.1301G>A (p.Arg434His)
c.1682G>A (p.Arg561His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687861G>ACA1652966GTF2A1L,LHCGR,STON1-GTF2A1Lc.1936C>T (p.Arg646Cys)
c.*248C>T (n.*248C>T)
c.3441+16181G>A (n.3441+16181G>A)
c.*680C>T (n.*680C>T)
c.1855C>T (p.Arg619Cys)
c.276+16181G>A (n.276+16181G>A)
c.*220+6363C>T (n.*220+6363C>T)
c.979C>T (p.Arg327Cys)
c.1006C>T (p.Arg336Cys)
c.1861C>T (p.Arg621Cys)
c.1675C>T (p.Arg559Cys)
c.1594C>T (p.Arg532Cys)
c.1300C>T (p.Arg434Cys)
c.1681C>T (p.Arg561Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687861G>CCA346743664GTF2A1L,LHCGR,STON1-GTF2A1Lc.1936C>G (p.Arg646Gly)
c.*248C>G (n.*248C>G)
c.3441+16181G>C (n.3441+16181G>C)
c.*680C>G (n.*680C>G)
c.1855C>G (p.Arg619Gly)
c.276+16181G>C (n.276+16181G>C)
c.*220+6363C>G (n.*220+6363C>G)
c.979C>G (p.Arg327Gly)
c.1006C>G (p.Arg336Gly)
c.1861C>G (p.Arg621Gly)
c.1675C>G (p.Arg559Gly)
c.1594C>G (p.Arg532Gly)
c.1300C>G (p.Arg434Gly)
c.1681C>G (p.Arg561Gly)
2g.48687861G=CA1248600879GTF2A1L,LHCGR,STON1-GTF2A1Lc.1936C= (p.Arg646=)
c.*248C= (n.*248C=)
c.3441+16181G= (n.3441+16181G=)
c.*680C= (n.*680C=)
c.1855C= (p.Arg619=)
c.276+16181G= (n.276+16181G=)
c.*220+6363C= (n.*220+6363C=)
c.979C= (p.Arg327=)
c.1006C= (p.Arg336=)
c.1861C= (p.Arg621=)
c.1675C= (p.Arg559=)
c.1594C= (p.Arg532=)
c.1300C= (p.Arg434=)
c.1681C= (p.Arg561=)
2g.48687861G>TCA346743666GTF2A1L,LHCGR,STON1-GTF2A1Lc.1936C>A (p.Arg646Ser)
c.*248C>A (n.*248C>A)
c.3441+16181G>T (n.3441+16181G>T)
c.*680C>A (n.*680C>A)
c.1855C>A (p.Arg619Ser)
c.276+16181G>T (n.276+16181G>T)
c.*220+6363C>A (n.*220+6363C>A)
c.979C>A (p.Arg327Ser)
c.1006C>A (p.Arg336Ser)
c.1861C>A (p.Arg621Ser)
c.1675C>A (p.Arg559Ser)
c.1594C>A (p.Arg532Ser)
c.1300C>A (p.Arg434Ser)
c.1681C>A (p.Arg561Ser)
2g.48687862T>ACA346743671GTF2A1L,LHCGR,STON1-GTF2A1Lc.1935A>T (p.Lys645Asn)
c.*247A>T (n.*247A>T)
c.3441+16182T>A (n.3441+16182T>A)
c.*679A>T (n.*679A>T)
c.1854A>T (p.Lys618Asn)
c.276+16182T>A (n.276+16182T>A)
c.*220+6362A>T (n.*220+6362A>T)
c.978A>T (p.Lys326Asn)
c.1005A>T (p.Lys335Asn)
c.1860A>T (p.Lys620Asn)
c.1674A>T (p.Lys558Asn)
c.1593A>T (p.Lys531Asn)
c.1299A>T (p.Lys433Asn)
c.1680A>T (p.Lys560Asn)
2g.48687862T>CCA426125208GTF2A1L,LHCGR,STON1-GTF2A1Lc.1935A>G (p.Lys645=)
c.*247A>G (n.*247A>G)
c.3441+16182T>C (n.3441+16182T>C)
c.*679A>G (n.*679A>G)
c.1854A>G (p.Lys618=)
c.276+16182T>C (n.276+16182T>C)
c.*220+6362A>G (n.*220+6362A>G)
c.978A>G (p.Lys326=)
c.1005A>G (p.Lys335=)
c.1860A>G (p.Lys620=)
c.1674A>G (p.Lys558=)
c.1593A>G (p.Lys531=)
c.1299A>G (p.Lys433=)
c.1680A>G (p.Lys560=)
2g.48687862T>GCA346743669GTF2A1L,LHCGR,STON1-GTF2A1Lc.1935A>C (p.Lys645Asn)
c.*247A>C (n.*247A>C)
c.3441+16182T>G (n.3441+16182T>G)
c.*679A>C (n.*679A>C)
c.1854A>C (p.Lys618Asn)
c.276+16182T>G (n.276+16182T>G)
c.*220+6362A>C (n.*220+6362A>C)
c.978A>C (p.Lys326Asn)
c.1005A>C (p.Lys335Asn)
c.1860A>C (p.Lys620Asn)
c.1674A>C (p.Lys558Asn)
c.1593A>C (p.Lys531Asn)
c.1299A>C (p.Lys433Asn)
c.1680A>C (p.Lys560Asn)
2g.48687863T>ACA346743673GTF2A1L,LHCGR,STON1-GTF2A1Lc.1934A>T (p.Lys645Ile)
c.*246A>T (n.*246A>T)
c.3441+16183T>A (n.3441+16183T>A)
c.*678A>T (n.*678A>T)
c.1853A>T (p.Lys618Ile)
c.276+16183T>A (n.276+16183T>A)
c.*220+6361A>T (n.*220+6361A>T)
c.977A>T (p.Lys326Ile)
c.1004A>T (p.Lys335Ile)
c.1859A>T (p.Lys620Ile)
c.1673A>T (p.Lys558Ile)
c.1592A>T (p.Lys531Ile)
c.1298A>T (p.Lys433Ile)
c.1679A>T (p.Lys560Ile)
2g.48687863T>CCA346743677GTF2A1L,LHCGR,STON1-GTF2A1Lc.1934A>G (p.Lys645Arg)
c.*246A>G (n.*246A>G)
c.3441+16183T>C (n.3441+16183T>C)
c.*678A>G (n.*678A>G)
c.1853A>G (p.Lys618Arg)
c.276+16183T>C (n.276+16183T>C)
c.*220+6361A>G (n.*220+6361A>G)
c.977A>G (p.Lys326Arg)
c.1004A>G (p.Lys335Arg)
c.1859A>G (p.Lys620Arg)
c.1673A>G (p.Lys558Arg)
c.1592A>G (p.Lys531Arg)
c.1298A>G (p.Lys433Arg)
c.1679A>G (p.Lys560Arg)
2g.48687863T>GCA346743675GTF2A1L,LHCGR,STON1-GTF2A1Lc.1934A>C (p.Lys645Thr)
c.*246A>C (n.*246A>C)
c.3441+16183T>G (n.3441+16183T>G)
c.*678A>C (n.*678A>C)
c.1853A>C (p.Lys618Thr)
c.276+16183T>G (n.276+16183T>G)
c.*220+6361A>C (n.*220+6361A>C)
c.977A>C (p.Lys326Thr)
c.1004A>C (p.Lys335Thr)
c.1859A>C (p.Lys620Thr)
c.1673A>C (p.Lys558Thr)
c.1592A>C (p.Lys531Thr)
c.1298A>C (p.Lys433Thr)
c.1679A>C (p.Lys560Thr)
2g.48687864T>ACA346743679GTF2A1L,LHCGR,STON1-GTF2A1Lc.1933A>T (p.Lys645Ter)
c.*245A>T (n.*245A>T)
c.3441+16184T>A (n.3441+16184T>A)
c.*677A>T (n.*677A>T)
c.1852A>T (p.Lys618Ter)
c.276+16184T>A (n.276+16184T>A)
c.*220+6360A>T (n.*220+6360A>T)
c.976A>T (p.Lys326Ter)
c.1003A>T (p.Lys335Ter)
c.1858A>T (p.Lys620Ter)
c.1672A>T (p.Lys558Ter)
c.1591A>T (p.Lys531Ter)
c.1297A>T (p.Lys433Ter)
c.1678A>T (p.Lys560Ter)
2g.48687864T>CCA346743684GTF2A1L,LHCGR,STON1-GTF2A1Lc.1933A>G (p.Lys645Glu)
c.*245A>G (n.*245A>G)
c.3441+16184T>C (n.3441+16184T>C)
c.*677A>G (n.*677A>G)
c.1852A>G (p.Lys618Glu)
c.276+16184T>C (n.276+16184T>C)
c.*220+6360A>G (n.*220+6360A>G)
c.976A>G (p.Lys326Glu)
c.1003A>G (p.Lys335Glu)
c.1858A>G (p.Lys620Glu)
c.1672A>G (p.Lys558Glu)
c.1591A>G (p.Lys531Glu)
c.1297A>G (p.Lys433Glu)
c.1678A>G (p.Lys560Glu)
2g.48687864T>GCA346743681GTF2A1L,LHCGR,STON1-GTF2A1Lc.1933A>C (p.Lys645Gln)
c.*245A>C (n.*245A>C)
c.3441+16184T>G (n.3441+16184T>G)
c.*677A>C (n.*677A>C)
c.1852A>C (p.Lys618Gln)
c.276+16184T>G (n.276+16184T>G)
c.*220+6360A>C (n.*220+6360A>C)
c.976A>C (p.Lys326Gln)
c.1003A>C (p.Lys335Gln)
c.1858A>C (p.Lys620Gln)
c.1672A>C (p.Lys558Gln)
c.1591A>C (p.Lys531Gln)
c.1297A>C (p.Lys433Gln)
c.1678A>C (p.Lys560Gln)
 gnomAD v4
2g.48687865A>CCA346743686GTF2A1L,LHCGR,STON1-GTF2A1Lc.1932T>G (p.Cys644Trp)
c.*244T>G (n.*244T>G)
c.3441+16185A>C (n.3441+16185A>C)
c.*676T>G (n.*676T>G)
c.1851T>G (p.Cys617Trp)
c.276+16185A>C (n.276+16185A>C)
c.*220+6359T>G (n.*220+6359T>G)
c.975T>G (p.Cys325Trp)
c.1002T>G (p.Cys334Trp)
c.1857T>G (p.Cys619Trp)
c.1671T>G (p.Cys557Trp)
c.1590T>G (p.Cys530Trp)
c.1296T>G (p.Cys432Trp)
c.1677T>G (p.Cys559Trp)
2g.48687865A>GCA426125210GTF2A1L,LHCGR,STON1-GTF2A1Lc.1932T>C (p.Cys644=)
c.*244T>C (n.*244T>C)
c.3441+16185A>G (n.3441+16185A>G)
c.*676T>C (n.*676T>C)
c.1851T>C (p.Cys617=)
c.276+16185A>G (n.276+16185A>G)
c.*220+6359T>C (n.*220+6359T>C)
c.975T>C (p.Cys325=)
c.1002T>C (p.Cys334=)
c.1857T>C (p.Cys619=)
c.1671T>C (p.Cys557=)
c.1590T>C (p.Cys530=)
c.1296T>C (p.Cys432=)
c.1677T>C (p.Cys559=)
2g.48687865A>TCA346743687GTF2A1L,LHCGR,STON1-GTF2A1Lc.1932T>A (p.Cys644Ter)
c.*244T>A (n.*244T>A)
c.3441+16185A>T (n.3441+16185A>T)
c.*676T>A (n.*676T>A)
c.1851T>A (p.Cys617Ter)
c.276+16185A>T (n.276+16185A>T)
c.*220+6359T>A (n.*220+6359T>A)
c.975T>A (p.Cys325Ter)
c.1002T>A (p.Cys334Ter)
c.1857T>A (p.Cys619Ter)
c.1671T>A (p.Cys557Ter)
c.1590T>A (p.Cys530Ter)
c.1296T>A (p.Cys432Ter)
c.1677T>A (p.Cys559Ter)
2g.48687866C>ACA346743691GTF2A1L,LHCGR,STON1-GTF2A1Lc.1931G>T (p.Cys644Phe)
c.*243G>T (n.*243G>T)
c.3441+16186C>A (n.3441+16186C>A)
c.*675G>T (n.*675G>T)
c.1850G>T (p.Cys617Phe)
c.276+16186C>A (n.276+16186C>A)
c.*220+6358G>T (n.*220+6358G>T)
c.974G>T (p.Cys325Phe)
c.1001G>T (p.Cys334Phe)
c.1856G>T (p.Cys619Phe)
c.1670G>T (p.Cys557Phe)
c.1589G>T (p.Cys530Phe)
c.1295G>T (p.Cys432Phe)
c.1676G>T (p.Cys559Phe)
 gnomAD v4
2g.48687866C=CA1248600880GTF2A1L,LHCGR,STON1-GTF2A1Lc.1931G= (p.Cys644=)
c.*243G= (n.*243G=)
c.3441+16186C= (n.3441+16186C=)
c.*675G= (n.*675G=)
c.1850G= (p.Cys617=)
c.276+16186C= (n.276+16186C=)
c.*220+6358G= (n.*220+6358G=)
c.974G= (p.Cys325=)
c.1001G= (p.Cys334=)
c.1856G= (p.Cys619=)
c.1670G= (p.Cys557=)
c.1589G= (p.Cys530=)
c.1295G= (p.Cys432=)
c.1676G= (p.Cys559=)
2g.48687866C>GCA346743694GTF2A1L,LHCGR,STON1-GTF2A1Lc.1931G>C (p.Cys644Ser)
c.*243G>C (n.*243G>C)
c.3441+16186C>G (n.3441+16186C>G)
c.*675G>C (n.*675G>C)
c.1850G>C (p.Cys617Ser)
c.276+16186C>G (n.276+16186C>G)
c.*220+6358G>C (n.*220+6358G>C)
c.974G>C (p.Cys325Ser)
c.1001G>C (p.Cys334Ser)
c.1856G>C (p.Cys619Ser)
c.1670G>C (p.Cys557Ser)
c.1589G>C (p.Cys530Ser)
c.1295G>C (p.Cys432Ser)
c.1676G>C (p.Cys559Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.48687866C>TCA346743696GTF2A1L,LHCGR,STON1-GTF2A1Lc.1931G>A (p.Cys644Tyr)
c.*243G>A (n.*243G>A)
c.3441+16186C>T (n.3441+16186C>T)
c.*675G>A (n.*675G>A)
c.1850G>A (p.Cys617Tyr)
c.276+16186C>T (n.276+16186C>T)
c.*220+6358G>A (n.*220+6358G>A)
c.974G>A (p.Cys325Tyr)
c.1001G>A (p.Cys334Tyr)
c.1856G>A (p.Cys619Tyr)
c.1670G>A (p.Cys557Tyr)
c.1589G>A (p.Cys530Tyr)
c.1295G>A (p.Cys432Tyr)
c.1676G>A (p.Cys559Tyr)
 gnomAD v4
2g.48687867A=CA1248600881GTF2A1L,LHCGR,STON1-GTF2A1Lc.1930T= (p.Cys644=)
c.*242T= (n.*242T=)
c.3441+16187A= (n.3441+16187A=)
c.*674T= (n.*674T=)
c.1849T= (p.Cys617=)
c.276+16187A= (n.276+16187A=)
c.*220+6357T= (n.*220+6357T=)
c.973T= (p.Cys325=)
c.1000T= (p.Cys334=)
c.1855T= (p.Cys619=)
c.1669T= (p.Cys557=)
c.1588T= (p.Cys530=)
c.1294T= (p.Cys432=)
c.1675T= (p.Cys559=)
2g.48687867A>CCA346743698GTF2A1L,LHCGR,STON1-GTF2A1Lc.1930T>G (p.Cys644Gly)
c.*242T>G (n.*242T>G)
c.3441+16187A>C (n.3441+16187A>C)
c.*674T>G (n.*674T>G)
c.1849T>G (p.Cys617Gly)
c.276+16187A>C (n.276+16187A>C)
c.*220+6357T>G (n.*220+6357T>G)
c.973T>G (p.Cys325Gly)
c.1000T>G (p.Cys334Gly)
c.1855T>G (p.Cys619Gly)
c.1669T>G (p.Cys557Gly)
c.1588T>G (p.Cys530Gly)
c.1294T>G (p.Cys432Gly)
c.1675T>G (p.Cys559Gly)
 COSMIC
2g.48687867A>GCA1652967GTF2A1L,LHCGR,STON1-GTF2A1Lc.1930T>C (p.Cys644Arg)
c.*242T>C (n.*242T>C)
c.3441+16187A>G (n.3441+16187A>G)
c.*674T>C (n.*674T>C)
c.1849T>C (p.Cys617Arg)
c.276+16187A>G (n.276+16187A>G)
c.*220+6357T>C (n.*220+6357T>C)
c.973T>C (p.Cys325Arg)
c.1000T>C (p.Cys334Arg)
c.1855T>C (p.Cys619Arg)
c.1669T>C (p.Cys557Arg)
c.1588T>C (p.Cys530Arg)
c.1294T>C (p.Cys432Arg)
c.1675T>C (p.Cys559Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687867A>TCA346743701GTF2A1L,LHCGR,STON1-GTF2A1Lc.1930T>A (p.Cys644Ser)
c.*242T>A (n.*242T>A)
c.3441+16187A>T (n.3441+16187A>T)
c.*674T>A (n.*674T>A)
c.1849T>A (p.Cys617Ser)
c.276+16187A>T (n.276+16187A>T)
c.*220+6357T>A (n.*220+6357T>A)
c.973T>A (p.Cys325Ser)
c.1000T>A (p.Cys334Ser)
c.1855T>A (p.Cys619Ser)
c.1669T>A (p.Cys557Ser)
c.1588T>A (p.Cys530Ser)
c.1294T>A (p.Cys432Ser)
c.1675T>A (p.Cys559Ser)
2g.48687868G>ACA426125219GTF2A1L,LHCGR,STON1-GTF2A1Lc.1929C>T (p.Cys643=)
c.*241C>T (n.*241C>T)
c.3441+16188G>A (n.3441+16188G>A)
c.*673C>T (n.*673C>T)
c.1848C>T (p.Cys616=)
c.276+16188G>A (n.276+16188G>A)
c.*220+6356C>T (n.*220+6356C>T)
c.972C>T (p.Cys324=)
c.999C>T (p.Cys333=)
c.1854C>T (p.Cys618=)
c.1668C>T (p.Cys556=)
c.1587C>T (p.Cys529=)
c.1293C>T (p.Cys431=)
c.1674C>T (p.Cys558=)
2g.48687868G>CCA346743704GTF2A1L,LHCGR,STON1-GTF2A1Lc.1929C>G (p.Cys643Trp)
c.*241C>G (n.*241C>G)
c.3441+16188G>C (n.3441+16188G>C)
c.*673C>G (n.*673C>G)
c.1848C>G (p.Cys616Trp)
c.276+16188G>C (n.276+16188G>C)
c.*220+6356C>G (n.*220+6356C>G)
c.972C>G (p.Cys324Trp)
c.999C>G (p.Cys333Trp)
c.1854C>G (p.Cys618Trp)
c.1668C>G (p.Cys556Trp)
c.1587C>G (p.Cys529Trp)
c.1293C>G (p.Cys431Trp)
c.1674C>G (p.Cys558Trp)
 gnomAD v4
2g.48687868G>TCA346743706GTF2A1L,LHCGR,STON1-GTF2A1Lc.1929C>A (p.Cys643Ter)
c.*241C>A (n.*241C>A)
c.3441+16188G>T (n.3441+16188G>T)
c.*673C>A (n.*673C>A)
c.1848C>A (p.Cys616Ter)
c.276+16188G>T (n.276+16188G>T)
c.*220+6356C>A (n.*220+6356C>A)
c.972C>A (p.Cys324Ter)
c.999C>A (p.Cys333Ter)
c.1854C>A (p.Cys618Ter)
c.1668C>A (p.Cys556Ter)
c.1587C>A (p.Cys529Ter)
c.1293C>A (p.Cys431Ter)
c.1674C>A (p.Cys558Ter)
 COSMIC
2g.48687869C>ACA346743709GTF2A1L,LHCGR,STON1-GTF2A1Lc.1928G>T (p.Cys643Phe)
c.*240G>T (n.*240G>T)
c.3441+16189C>A (n.3441+16189C>A)
c.*672G>T (n.*672G>T)
c.1847G>T (p.Cys616Phe)
c.276+16189C>A (n.276+16189C>A)
c.*220+6355G>T (n.*220+6355G>T)
c.971G>T (p.Cys324Phe)
c.998G>T (p.Cys333Phe)
c.1853G>T (p.Cys618Phe)
c.1667G>T (p.Cys556Phe)
c.1586G>T (p.Cys529Phe)
c.1292G>T (p.Cys431Phe)
c.1673G>T (p.Cys558Phe)
2g.48687869C=CA1248600882GTF2A1L,LHCGR,STON1-GTF2A1Lc.1928G= (p.Cys643=)
c.*240G= (n.*240G=)
c.3441+16189C= (n.3441+16189C=)
c.*672G= (n.*672G=)
c.1847G= (p.Cys616=)
c.276+16189C= (n.276+16189C=)
c.*220+6355G= (n.*220+6355G=)
c.971G= (p.Cys324=)
c.998G= (p.Cys333=)
c.1853G= (p.Cys618=)
c.1667G= (p.Cys556=)
c.1586G= (p.Cys529=)
c.1292G= (p.Cys431=)
c.1673G= (p.Cys558=)
2g.48687869C>GCA346743712GTF2A1L,LHCGR,STON1-GTF2A1Lc.1928G>C (p.Cys643Ser)
c.*240G>C (n.*240G>C)
c.3441+16189C>G (n.3441+16189C>G)
c.*672G>C (n.*672G>C)
c.1847G>C (p.Cys616Ser)
c.276+16189C>G (n.276+16189C>G)
c.*220+6355G>C (n.*220+6355G>C)
c.971G>C (p.Cys324Ser)
c.998G>C (p.Cys333Ser)
c.1853G>C (p.Cys618Ser)
c.1667G>C (p.Cys556Ser)
c.1586G>C (p.Cys529Ser)
c.1292G>C (p.Cys431Ser)
c.1673G>C (p.Cys558Ser)
2g.48687869C>TCA346743714GTF2A1L,LHCGR,STON1-GTF2A1Lc.1928G>A (p.Cys643Tyr)
c.*240G>A (n.*240G>A)
c.3441+16189C>T (n.3441+16189C>T)
c.*672G>A (n.*672G>A)
c.1847G>A (p.Cys616Tyr)
c.276+16189C>T (n.276+16189C>T)
c.*220+6355G>A (n.*220+6355G>A)
c.971G>A (p.Cys324Tyr)
c.998G>A (p.Cys333Tyr)
c.1853G>A (p.Cys618Tyr)
c.1667G>A (p.Cys556Tyr)
c.1586G>A (p.Cys529Tyr)
c.1292G>A (p.Cys431Tyr)
c.1673G>A (p.Cys558Tyr)
 dbSNP gnomAD v4
2g.48687870A>CCA346743720GTF2A1L,LHCGR,STON1-GTF2A1Lc.1927T>G (p.Cys643Gly)
c.*239T>G (n.*239T>G)
c.3441+16190A>C (n.3441+16190A>C)
c.*671T>G (n.*671T>G)
c.1846T>G (p.Cys616Gly)
c.276+16190A>C (n.276+16190A>C)
c.*220+6354T>G (n.*220+6354T>G)
c.970T>G (p.Cys324Gly)
c.997T>G (p.Cys333Gly)
c.1852T>G (p.Cys618Gly)
c.1666T>G (p.Cys556Gly)
c.1585T>G (p.Cys529Gly)
c.1291T>G (p.Cys431Gly)
c.1672T>G (p.Cys558Gly)
2g.48687870A>GCA346743716GTF2A1L,LHCGR,STON1-GTF2A1Lc.1927T>C (p.Cys643Arg)
c.*239T>C (n.*239T>C)
c.3441+16190A>G (n.3441+16190A>G)
c.*671T>C (n.*671T>C)
c.1846T>C (p.Cys616Arg)
c.276+16190A>G (n.276+16190A>G)
c.*220+6354T>C (n.*220+6354T>C)
c.970T>C (p.Cys324Arg)
c.997T>C (p.Cys333Arg)
c.1852T>C (p.Cys618Arg)
c.1666T>C (p.Cys556Arg)
c.1585T>C (p.Cys529Arg)
c.1291T>C (p.Cys431Arg)
c.1672T>C (p.Cys558Arg)
2g.48687870A>TCA346743718GTF2A1L,LHCGR,STON1-GTF2A1Lc.1927T>A (p.Cys643Ser)
c.*239T>A (n.*239T>A)
c.3441+16190A>T (n.3441+16190A>T)
c.*671T>A (n.*671T>A)
c.1846T>A (p.Cys616Ser)
c.276+16190A>T (n.276+16190A>T)
c.*220+6354T>A (n.*220+6354T>A)
c.970T>A (p.Cys324Ser)
c.997T>A (p.Cys333Ser)
c.1852T>A (p.Cys618Ser)
c.1666T>A (p.Cys556Ser)
c.1585T>A (p.Cys529Ser)
c.1291T>A (p.Cys431Ser)
c.1672T>A (p.Cys558Ser)
2g.48687871G>ACA426125221GTF2A1L,LHCGR,STON1-GTF2A1Lc.1926C>T (p.Gly642=)
c.*238C>T (n.*238C>T)
c.3441+16191G>A (n.3441+16191G>A)
c.*670C>T (n.*670C>T)
c.1845C>T (p.Gly615=)
c.276+16191G>A (n.276+16191G>A)
c.*220+6353C>T (n.*220+6353C>T)
c.969C>T (p.Gly323=)
c.996C>T (p.Gly332=)
c.1851C>T (p.Gly617=)
c.1665C>T (p.Gly555=)
c.1584C>T (p.Gly528=)
c.1290C>T (p.Gly430=)
c.1671C>T (p.Gly557=)
 gnomAD v4
2g.48687871G>CCA426125222GTF2A1L,LHCGR,STON1-GTF2A1Lc.1926C>G (p.Gly642=)
c.*238C>G (n.*238C>G)
c.3441+16191G>C (n.3441+16191G>C)
c.*670C>G (n.*670C>G)
c.1845C>G (p.Gly615=)
c.276+16191G>C (n.276+16191G>C)
c.*220+6353C>G (n.*220+6353C>G)
c.969C>G (p.Gly323=)
c.996C>G (p.Gly332=)
c.1851C>G (p.Gly617=)
c.1665C>G (p.Gly555=)
c.1584C>G (p.Gly528=)
c.1290C>G (p.Gly430=)
c.1671C>G (p.Gly557=)
2g.48687871G>TCA426125224GTF2A1L,LHCGR,STON1-GTF2A1Lc.1926C>A (p.Gly642=)
c.*238C>A (n.*238C>A)
c.3441+16191G>T (n.3441+16191G>T)
c.*670C>A (n.*670C>A)
c.1845C>A (p.Gly615=)
c.276+16191G>T (n.276+16191G>T)
c.*220+6353C>A (n.*220+6353C>A)
c.969C>A (p.Gly323=)
c.996C>A (p.Gly332=)
c.1851C>A (p.Gly617=)
c.1665C>A (p.Gly555=)
c.1584C>A (p.Gly528=)
c.1290C>A (p.Gly430=)
c.1671C>A (p.Gly557=)
2g.48687872C>ACA346743723GTF2A1L,LHCGR,STON1-GTF2A1Lc.1925G>T (p.Gly642Val)
c.*237G>T (n.*237G>T)
c.3441+16192C>A (n.3441+16192C>A)
c.*669G>T (n.*669G>T)
c.1844G>T (p.Gly615Val)
c.276+16192C>A (n.276+16192C>A)
c.*220+6352G>T (n.*220+6352G>T)
c.968G>T (p.Gly323Val)
c.995G>T (p.Gly332Val)
c.1850G>T (p.Gly617Val)
c.1664G>T (p.Gly555Val)
c.1583G>T (p.Gly528Val)
c.1289G>T (p.Gly430Val)
c.1670G>T (p.Gly557Val)
 dbSNP gnomAD v3 gnomAD v4
2g.48687872C=CA1248600883GTF2A1L,LHCGR,STON1-GTF2A1Lc.1925G= (p.Gly642=)
c.*237G= (n.*237G=)
c.3441+16192C= (n.3441+16192C=)
c.*669G= (n.*669G=)
c.1844G= (p.Gly615=)
c.276+16192C= (n.276+16192C=)
c.*220+6352G= (n.*220+6352G=)
c.968G= (p.Gly323=)
c.995G= (p.Gly332=)
c.1850G= (p.Gly617=)
c.1664G= (p.Gly555=)
c.1583G= (p.Gly528=)
c.1289G= (p.Gly430=)
c.1670G= (p.Gly557=)
2g.48687872C>GCA346743724GTF2A1L,LHCGR,STON1-GTF2A1Lc.1925G>C (p.Gly642Ala)
c.*237G>C (n.*237G>C)
c.3441+16192C>G (n.3441+16192C>G)
c.*669G>C (n.*669G>C)
c.1844G>C (p.Gly615Ala)
c.276+16192C>G (n.276+16192C>G)
c.*220+6352G>C (n.*220+6352G>C)
c.968G>C (p.Gly323Ala)
c.995G>C (p.Gly332Ala)
c.1850G>C (p.Gly617Ala)
c.1664G>C (p.Gly555Ala)
c.1583G>C (p.Gly528Ala)
c.1289G>C (p.Gly430Ala)
c.1670G>C (p.Gly557Ala)
2g.48687872C>TCA346743728GTF2A1L,LHCGR,STON1-GTF2A1Lc.1925G>A (p.Gly642Asp)
c.*237G>A (n.*237G>A)
c.3441+16192C>T (n.3441+16192C>T)
c.*669G>A (n.*669G>A)
c.1844G>A (p.Gly615Asp)
c.276+16192C>T (n.276+16192C>T)
c.*220+6352G>A (n.*220+6352G>A)
c.968G>A (p.Gly323Asp)
c.995G>A (p.Gly332Asp)
c.1850G>A (p.Gly617Asp)
c.1664G>A (p.Gly555Asp)
c.1583G>A (p.Gly528Asp)
c.1289G>A (p.Gly430Asp)
c.1670G>A (p.Gly557Asp)
 COSMIC
2g.48687873C>ACA346743730GTF2A1L,LHCGR,STON1-GTF2A1Lc.1924G>T (p.Gly642Cys)
c.*236G>T (n.*236G>T)
c.3441+16193C>A (n.3441+16193C>A)
c.*668G>T (n.*668G>T)
c.1843G>T (p.Gly615Cys)
c.276+16193C>A (n.276+16193C>A)
c.*220+6351G>T (n.*220+6351G>T)
c.967G>T (p.Gly323Cys)
c.994G>T (p.Gly332Cys)
c.1849G>T (p.Gly617Cys)
c.1663G>T (p.Gly555Cys)
c.1582G>T (p.Gly528Cys)
c.1288G>T (p.Gly430Cys)
c.1669G>T (p.Gly557Cys)
2g.48687873C=CA1248600884GTF2A1L,LHCGR,STON1-GTF2A1Lc.1924G= (p.Gly642=)
c.*236G= (n.*236G=)
c.3441+16193C= (n.3441+16193C=)
c.*668G= (n.*668G=)
c.1843G= (p.Gly615=)
c.276+16193C= (n.276+16193C=)
c.*220+6351G= (n.*220+6351G=)
c.967G= (p.Gly323=)
c.994G= (p.Gly332=)
c.1849G= (p.Gly617=)
c.1663G= (p.Gly555=)
c.1582G= (p.Gly528=)
c.1288G= (p.Gly430=)
c.1669G= (p.Gly557=)
2g.48687873C>GCA346743732GTF2A1L,LHCGR,STON1-GTF2A1Lc.1924G>C (p.Gly642Arg)
c.*236G>C (n.*236G>C)
c.3441+16193C>G (n.3441+16193C>G)
c.*668G>C (n.*668G>C)
c.1843G>C (p.Gly615Arg)
c.276+16193C>G (n.276+16193C>G)
c.*220+6351G>C (n.*220+6351G>C)
c.967G>C (p.Gly323Arg)
c.994G>C (p.Gly332Arg)
c.1849G>C (p.Gly617Arg)
c.1663G>C (p.Gly555Arg)
c.1582G>C (p.Gly528Arg)
c.1288G>C (p.Gly430Arg)
c.1669G>C (p.Gly557Arg)
2g.48687873C>TCA346743735GTF2A1L,LHCGR,STON1-GTF2A1Lc.1924G>A (p.Gly642Ser)
c.*236G>A (n.*236G>A)
c.3441+16193C>T (n.3441+16193C>T)
c.*668G>A (n.*668G>A)
c.1843G>A (p.Gly615Ser)
c.276+16193C>T (n.276+16193C>T)
c.*220+6351G>A (n.*220+6351G>A)
c.967G>A (p.Gly323Ser)
c.994G>A (p.Gly332Ser)
c.1849G>A (p.Gly617Ser)
c.1663G>A (p.Gly555Ser)
c.1582G>A (p.Gly528Ser)
c.1288G>A (p.Gly430Ser)
c.1669G>A (p.Gly557Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.48687874A>CCA346743738GTF2A1L,LHCGR,STON1-GTF2A1Lc.1923T>G (p.Phe641Leu)
c.*235T>G (n.*235T>G)
c.3441+16194A>C (n.3441+16194A>C)
c.*667T>G (n.*667T>G)
c.1842T>G (p.Phe614Leu)
c.276+16194A>C (n.276+16194A>C)
c.*220+6350T>G (n.*220+6350T>G)
c.966T>G (p.Phe322Leu)
c.993T>G (p.Phe331Leu)
c.1848T>G (p.Phe616Leu)
c.1662T>G (p.Phe554Leu)
c.1581T>G (p.Phe527Leu)
c.1287T>G (p.Phe429Leu)
c.1668T>G (p.Phe556Leu)
2g.48687874A>GCA426125235GTF2A1L,LHCGR,STON1-GTF2A1Lc.1923T>C (p.Phe641=)
c.*235T>C (n.*235T>C)
c.3441+16194A>G (n.3441+16194A>G)
c.*667T>C (n.*667T>C)
c.1842T>C (p.Phe614=)
c.276+16194A>G (n.276+16194A>G)
c.*220+6350T>C (n.*220+6350T>C)
c.966T>C (p.Phe322=)
c.993T>C (p.Phe331=)
c.1848T>C (p.Phe616=)
c.1662T>C (p.Phe554=)
c.1581T>C (p.Phe527=)
c.1287T>C (p.Phe429=)
c.1668T>C (p.Phe556=)
 gnomAD v4
2g.48687874A>TCA346743739GTF2A1L,LHCGR,STON1-GTF2A1Lc.1923T>A (p.Phe641Leu)
c.*235T>A (n.*235T>A)
c.3441+16194A>T (n.3441+16194A>T)
c.*667T>A (n.*667T>A)
c.1842T>A (p.Phe614Leu)
c.276+16194A>T (n.276+16194A>T)
c.*220+6350T>A (n.*220+6350T>A)
c.966T>A (p.Phe322Leu)
c.993T>A (p.Phe331Leu)
c.1848T>A (p.Phe616Leu)
c.1662T>A (p.Phe554Leu)
c.1581T>A (p.Phe527Leu)
c.1287T>A (p.Phe429Leu)
c.1668T>A (p.Phe556Leu)
2g.48687875A=CA1248600885GTF2A1L,LHCGR,STON1-GTF2A1Lc.1922T= (p.Phe641=)
c.*234T= (n.*234T=)
c.3441+16195A= (n.3441+16195A=)
c.*666T= (n.*666T=)
c.1841T= (p.Phe614=)
c.276+16195A= (n.276+16195A=)
c.*220+6349T= (n.*220+6349T=)
c.965T= (p.Phe322=)
c.992T= (p.Phe331=)
c.1847T= (p.Phe616=)
c.1661T= (p.Phe554=)
c.1580T= (p.Phe527=)
c.1286T= (p.Phe429=)
c.1667T= (p.Phe556=)
2g.48687875A>CCA1652968GTF2A1L,LHCGR,STON1-GTF2A1Lc.1922T>G (p.Phe641Cys)
c.*234T>G (n.*234T>G)
c.3441+16195A>C (n.3441+16195A>C)
c.*666T>G (n.*666T>G)
c.1841T>G (p.Phe614Cys)
c.276+16195A>C (n.276+16195A>C)
c.*220+6349T>G (n.*220+6349T>G)
c.965T>G (p.Phe322Cys)
c.992T>G (p.Phe331Cys)
c.1847T>G (p.Phe616Cys)
c.1661T>G (p.Phe554Cys)
c.1580T>G (p.Phe527Cys)
c.1286T>G (p.Phe429Cys)
c.1667T>G (p.Phe556Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.48687875A>GCA346743743GTF2A1L,LHCGR,STON1-GTF2A1Lc.1922T>C (p.Phe641Ser)
c.*234T>C (n.*234T>C)
c.3441+16195A>G (n.3441+16195A>G)
c.*666T>C (n.*666T>C)
c.1841T>C (p.Phe614Ser)
c.276+16195A>G (n.276+16195A>G)
c.*220+6349T>C (n.*220+6349T>C)
c.965T>C (p.Phe322Ser)
c.992T>C (p.Phe331Ser)
c.1847T>C (p.Phe616Ser)
c.1661T>C (p.Phe554Ser)
c.1580T>C (p.Phe527Ser)
c.1286T>C (p.Phe429Ser)
c.1667T>C (p.Phe556Ser)
 dbSNP
2g.48687875A>TCA346743745GTF2A1L,LHCGR,STON1-GTF2A1Lc.1922T>A (p.Phe641Tyr)
c.*234T>A (n.*234T>A)
c.3441+16195A>T (n.3441+16195A>T)
c.*666T>A (n.*666T>A)
c.1841T>A (p.Phe614Tyr)
c.276+16195A>T (n.276+16195A>T)
c.*220+6349T>A (n.*220+6349T>A)
c.965T>A (p.Phe322Tyr)
c.992T>A (p.Phe331Tyr)
c.1847T>A (p.Phe616Tyr)
c.1661T>A (p.Phe554Tyr)
c.1580T>A (p.Phe527Tyr)
c.1286T>A (p.Phe429Tyr)
c.1667T>A (p.Phe556Tyr)
2g.48687876A=CA1248600886GTF2A1L,LHCGR,STON1-GTF2A1Lc.1921T= (p.Phe641=)
c.*233T= (n.*233T=)
c.3441+16196A= (n.3441+16196A=)
c.*665T= (n.*665T=)
c.1840T= (p.Phe614=)
c.276+16196A= (n.276+16196A=)
c.*220+6348T= (n.*220+6348T=)
c.964T= (p.Phe322=)
c.991T= (p.Phe331=)
c.1846T= (p.Phe616=)
c.1660T= (p.Phe554=)
c.1579T= (p.Phe527=)
c.1285T= (p.Phe429=)
c.1666T= (p.Phe556=)
2g.48687876A>CCA346743750GTF2A1L,LHCGR,STON1-GTF2A1Lc.1921T>G (p.Phe641Val)
c.*233T>G (n.*233T>G)
c.3441+16196A>C (n.3441+16196A>C)
c.*665T>G (n.*665T>G)
c.1840T>G (p.Phe614Val)
c.276+16196A>C (n.276+16196A>C)
c.*220+6348T>G (n.*220+6348T>G)
c.964T>G (p.Phe322Val)
c.991T>G (p.Phe331Val)
c.1846T>G (p.Phe616Val)
c.1660T>G (p.Phe554Val)
c.1579T>G (p.Phe527Val)
c.1285T>G (p.Phe429Val)
c.1666T>G (p.Phe556Val)
2g.48687876A>GCA1652969GTF2A1L,LHCGR,STON1-GTF2A1Lc.1921T>C (p.Phe641Leu)
c.*233T>C (n.*233T>C)
c.3441+16196A>G (n.3441+16196A>G)
c.*665T>C (n.*665T>C)
c.1840T>C (p.Phe614Leu)
c.276+16196A>G (n.276+16196A>G)
c.*220+6348T>C (n.*220+6348T>C)
c.964T>C (p.Phe322Leu)
c.991T>C (p.Phe331Leu)
c.1846T>C (p.Phe616Leu)
c.1660T>C (p.Phe554Leu)
c.1579T>C (p.Phe527Leu)
c.1285T>C (p.Phe429Leu)
c.1666T>C (p.Phe556Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687876A>TCA346743748GTF2A1L,LHCGR,STON1-GTF2A1Lc.1921T>A (p.Phe641Ile)
c.*233T>A (n.*233T>A)
c.3441+16196A>T (n.3441+16196A>T)
c.*665T>A (n.*665T>A)
c.1840T>A (p.Phe614Ile)
c.276+16196A>T (n.276+16196A>T)
c.*220+6348T>A (n.*220+6348T>A)
c.964T>A (p.Phe322Ile)
c.991T>A (p.Phe331Ile)
c.1846T>A (p.Phe616Ile)
c.1660T>A (p.Phe554Ile)
c.1579T>A (p.Phe527Ile)
c.1285T>A (p.Phe429Ile)
c.1666T>A (p.Phe556Ile)
2g.48687877T>ACA346743755GTF2A1L,LHCGR,STON1-GTF2A1Lc.1920A>T (p.Lys640Asn)
c.*232A>T (n.*232A>T)
c.3441+16197T>A (n.3441+16197T>A)
c.*664A>T (n.*664A>T)
c.1839A>T (p.Lys613Asn)
c.276+16197T>A (n.276+16197T>A)
c.*220+6347A>T (n.*220+6347A>T)
c.963A>T (p.Lys321Asn)
c.990A>T (p.Lys330Asn)
c.1845A>T (p.Lys615Asn)
c.1659A>T (p.Lys553Asn)
c.1578A>T (p.Lys526Asn)
c.1284A>T (p.Lys428Asn)
c.1665A>T (p.Lys555Asn)
2g.48687877T>CCA426125243GTF2A1L,LHCGR,STON1-GTF2A1Lc.1920A>G (p.Lys640=)
c.*232A>G (n.*232A>G)
c.3441+16197T>C (n.3441+16197T>C)
c.*664A>G (n.*664A>G)
c.1839A>G (p.Lys613=)
c.276+16197T>C (n.276+16197T>C)
c.*220+6347A>G (n.*220+6347A>G)
c.963A>G (p.Lys321=)
c.990A>G (p.Lys330=)
c.1845A>G (p.Lys615=)
c.1659A>G (p.Lys553=)
c.1578A>G (p.Lys526=)
c.1284A>G (p.Lys428=)
c.1665A>G (p.Lys555=)
 dbSNP gnomAD v4
2g.48687877T>GCA346743757GTF2A1L,LHCGR,STON1-GTF2A1Lc.1920A>C (p.Lys640Asn)
c.*232A>C (n.*232A>C)
c.3441+16197T>G (n.3441+16197T>G)
c.*664A>C (n.*664A>C)
c.1839A>C (p.Lys613Asn)
c.276+16197T>G (n.276+16197T>G)
c.*220+6347A>C (n.*220+6347A>C)
c.963A>C (p.Lys321Asn)
c.990A>C (p.Lys330Asn)
c.1845A>C (p.Lys615Asn)
c.1659A>C (p.Lys553Asn)
c.1578A>C (p.Lys526Asn)
c.1284A>C (p.Lys428Asn)
c.1665A>C (p.Lys555Asn)
2g.48687877T=CA1248600887GTF2A1L,LHCGR,STON1-GTF2A1Lc.1920A= (p.Lys640=)
c.*232A= (n.*232A=)
c.3441+16197T= (n.3441+16197T=)
c.*664A= (n.*664A=)
c.1839A= (p.Lys613=)
c.276+16197T= (n.276+16197T=)
c.*220+6347A= (n.*220+6347A=)
c.963A= (p.Lys321=)
c.990A= (p.Lys330=)
c.1845A= (p.Lys615=)
c.1659A= (p.Lys553=)
c.1578A= (p.Lys526=)
c.1284A= (p.Lys428=)
c.1665A= (p.Lys555=)
2g.48687878T>ACA346743759GTF2A1L,LHCGR,STON1-GTF2A1Lc.1919A>T (p.Lys640Ile)
c.*231A>T (n.*231A>T)
c.3441+16198T>A (n.3441+16198T>A)
c.*663A>T (n.*663A>T)
c.1838A>T (p.Lys613Ile)
c.276+16198T>A (n.276+16198T>A)
c.*220+6346A>T (n.*220+6346A>T)
c.962A>T (p.Lys321Ile)
c.989A>T (p.Lys330Ile)
c.1844A>T (p.Lys615Ile)
c.1658A>T (p.Lys553Ile)
c.1577A>T (p.Lys526Ile)
c.1283A>T (p.Lys428Ile)
c.1664A>T (p.Lys555Ile)
2g.48687878T>CCA346743762GTF2A1L,LHCGR,STON1-GTF2A1Lc.1919A>G (p.Lys640Arg)
c.*231A>G (n.*231A>G)
c.3441+16198T>C (n.3441+16198T>C)
c.*663A>G (n.*663A>G)
c.1838A>G (p.Lys613Arg)
c.276+16198T>C (n.276+16198T>C)
c.*220+6346A>G (n.*220+6346A>G)
c.962A>G (p.Lys321Arg)
c.989A>G (p.Lys330Arg)
c.1844A>G (p.Lys615Arg)
c.1658A>G (p.Lys553Arg)
c.1577A>G (p.Lys526Arg)
c.1283A>G (p.Lys428Arg)
c.1664A>G (p.Lys555Arg)
2g.48687878T>GCA346743764GTF2A1L,LHCGR,STON1-GTF2A1Lc.1919A>C (p.Lys640Thr)
c.*231A>C (n.*231A>C)
c.3441+16198T>G (n.3441+16198T>G)
c.*663A>C (n.*663A>C)
c.1838A>C (p.Lys613Thr)
c.276+16198T>G (n.276+16198T>G)
c.*220+6346A>C (n.*220+6346A>C)
c.962A>C (p.Lys321Thr)
c.989A>C (p.Lys330Thr)
c.1844A>C (p.Lys615Thr)
c.1658A>C (p.Lys553Thr)
c.1577A>C (p.Lys526Thr)
c.1283A>C (p.Lys428Thr)
c.1664A>C (p.Lys555Thr)
 dbSNP
2g.48687878T=CA1248600888GTF2A1L,LHCGR,STON1-GTF2A1Lc.1919A= (p.Lys640=)
c.*231A= (n.*231A=)
c.3441+16198T= (n.3441+16198T=)
c.*663A= (n.*663A=)
c.1838A= (p.Lys613=)
c.276+16198T= (n.276+16198T=)
c.*220+6346A= (n.*220+6346A=)
c.962A= (p.Lys321=)
c.989A= (p.Lys330=)
c.1844A= (p.Lys615=)
c.1658A= (p.Lys553=)
c.1577A= (p.Lys526=)
c.1283A= (p.Lys428=)
c.1664A= (p.Lys555=)
2g.48687879T>ACA346743772GTF2A1L,LHCGR,STON1-GTF2A1Lc.1918A>T (p.Lys640Ter)
c.*230A>T (n.*230A>T)
c.3441+16199T>A (n.3441+16199T>A)
c.*662A>T (n.*662A>T)
c.1837A>T (p.Lys613Ter)
c.276+16199T>A (n.276+16199T>A)
c.*220+6345A>T (n.*220+6345A>T)
c.961A>T (p.Lys321Ter)
c.988A>T (p.Lys330Ter)
c.1843A>T (p.Lys615Ter)
c.1657A>T (p.Lys553Ter)
c.1576A>T (p.Lys526Ter)
c.1282A>T (p.Lys428Ter)
c.1663A>T (p.Lys555Ter)
2g.48687879T>CCA346743768GTF2A1L,LHCGR,STON1-GTF2A1Lc.1918A>G (p.Lys640Glu)
c.*230A>G (n.*230A>G)
c.3441+16199T>C (n.3441+16199T>C)
c.*662A>G (n.*662A>G)
c.1837A>G (p.Lys613Glu)
c.276+16199T>C (n.276+16199T>C)
c.*220+6345A>G (n.*220+6345A>G)
c.961A>G (p.Lys321Glu)
c.988A>G (p.Lys330Glu)
c.1843A>G (p.Lys615Glu)
c.1657A>G (p.Lys553Glu)
c.1576A>G (p.Lys526Glu)
c.1282A>G (p.Lys428Glu)
c.1663A>G (p.Lys555Glu)
2g.48687879T>GCA346743770GTF2A1L,LHCGR,STON1-GTF2A1Lc.1918A>C (p.Lys640Gln)
c.*230A>C (n.*230A>C)
c.3441+16199T>G (n.3441+16199T>G)
c.*662A>C (n.*662A>C)
c.1837A>C (p.Lys613Gln)
c.276+16199T>G (n.276+16199T>G)
c.*220+6345A>C (n.*220+6345A>C)
c.961A>C (p.Lys321Gln)
c.988A>C (p.Lys330Gln)
c.1843A>C (p.Lys615Gln)
c.1657A>C (p.Lys553Gln)
c.1576A>C (p.Lys526Gln)
c.1282A>C (p.Lys428Gln)
c.1663A>C (p.Lys555Gln)
2g.48687880G>ACA426125249GTF2A1L,LHCGR,STON1-GTF2A1Lc.1917C>T (p.Ser639=)
c.*229C>T (n.*229C>T)
c.3441+16200G>A (n.3441+16200G>A)
c.*661C>T (n.*661C>T)
c.1836C>T (p.Ser612=)
c.276+16200G>A (n.276+16200G>A)
c.*220+6344C>T (n.*220+6344C>T)
c.960C>T (p.Ser320=)
c.987C>T (p.Ser329=)
c.1842C>T (p.Ser614=)
c.1656C>T (p.Ser552=)
c.1575C>T (p.Ser525=)
c.1281C>T (p.Ser427=)
c.1662C>T (p.Ser554=)
 gnomAD v4
2g.48687880G>CCA346743775GTF2A1L,LHCGR,STON1-GTF2A1Lc.1917C>G (p.Ser639Arg)
c.*229C>G (n.*229C>G)
c.3441+16200G>C (n.3441+16200G>C)
c.*661C>G (n.*661C>G)
c.1836C>G (p.Ser612Arg)
c.276+16200G>C (n.276+16200G>C)
c.*220+6344C>G (n.*220+6344C>G)
c.960C>G (p.Ser320Arg)
c.987C>G (p.Ser329Arg)
c.1842C>G (p.Ser614Arg)
c.1656C>G (p.Ser552Arg)
c.1575C>G (p.Ser525Arg)
c.1281C>G (p.Ser427Arg)
c.1662C>G (p.Ser554Arg)
2g.48687880G>TCA346743782GTF2A1L,LHCGR,STON1-GTF2A1Lc.1917C>A (p.Ser639Arg)
c.*229C>A (n.*229C>A)
c.3441+16200G>T (n.3441+16200G>T)
c.*661C>A (n.*661C>A)
c.1836C>A (p.Ser612Arg)
c.276+16200G>T (n.276+16200G>T)
c.*220+6344C>A (n.*220+6344C>A)
c.960C>A (p.Ser320Arg)
c.987C>A (p.Ser329Arg)
c.1842C>A (p.Ser614Arg)
c.1656C>A (p.Ser552Arg)
c.1575C>A (p.Ser525Arg)
c.1281C>A (p.Ser427Arg)
c.1662C>A (p.Ser554Arg)
2g.48687881C>ACA346743787GTF2A1L,LHCGR,STON1-GTF2A1Lc.1916G>T (p.Ser639Ile)
c.*228G>T (n.*228G>T)
c.3441+16201C>A (n.3441+16201C>A)
c.*660G>T (n.*660G>T)
c.1835G>T (p.Ser612Ile)
c.276+16201C>A (n.276+16201C>A)
c.*220+6343G>T (n.*220+6343G>T)
c.959G>T (p.Ser320Ile)
c.986G>T (p.Ser329Ile)
c.1841G>T (p.Ser614Ile)
c.1655G>T (p.Ser552Ile)
c.1574G>T (p.Ser525Ile)
c.1280G>T (p.Ser427Ile)
c.1661G>T (p.Ser554Ile)
2g.48687881C=CA1248600889GTF2A1L,LHCGR,STON1-GTF2A1Lc.1916G= (p.Ser639=)
c.*228G= (n.*228G=)
c.3441+16201C= (n.3441+16201C=)
c.*660G= (n.*660G=)
c.1835G= (p.Ser612=)
c.276+16201C= (n.276+16201C=)
c.*220+6343G= (n.*220+6343G=)
c.959G= (p.Ser320=)
c.986G= (p.Ser329=)
c.1841G= (p.Ser614=)
c.1655G= (p.Ser552=)
c.1574G= (p.Ser525=)
c.1280G= (p.Ser427=)
c.1661G= (p.Ser554=)
2g.48687881C>GCA346743789GTF2A1L,LHCGR,STON1-GTF2A1Lc.1916G>C (p.Ser639Thr)
c.*228G>C (n.*228G>C)
c.3441+16201C>G (n.3441+16201C>G)
c.*660G>C (n.*660G>C)
c.1835G>C (p.Ser612Thr)
c.276+16201C>G (n.276+16201C>G)
c.*220+6343G>C (n.*220+6343G>C)
c.959G>C (p.Ser320Thr)
c.986G>C (p.Ser329Thr)
c.1841G>C (p.Ser614Thr)
c.1655G>C (p.Ser552Thr)
c.1574G>C (p.Ser525Thr)
c.1280G>C (p.Ser427Thr)
c.1661G>C (p.Ser554Thr)
2g.48687881C>TCA1652970GTF2A1L,LHCGR,STON1-GTF2A1Lc.1916G>A (p.Ser639Asn)
c.*228G>A (n.*228G>A)
c.3441+16201C>T (n.3441+16201C>T)
c.*660G>A (n.*660G>A)
c.1835G>A (p.Ser612Asn)
c.276+16201C>T (n.276+16201C>T)
c.*220+6343G>A (n.*220+6343G>A)
c.959G>A (p.Ser320Asn)
c.986G>A (p.Ser329Asn)
c.1841G>A (p.Ser614Asn)
c.1655G>A (p.Ser552Asn)
c.1574G>A (p.Ser525Asn)
c.1280G>A (p.Ser427Asn)
c.1661G>A (p.Ser554Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687882T>ACA346743795GTF2A1L,LHCGR,STON1-GTF2A1Lc.1915A>T (p.Ser639Cys)
c.*227A>T (n.*227A>T)
c.3441+16202T>A (n.3441+16202T>A)
c.*659A>T (n.*659A>T)
c.1834A>T (p.Ser612Cys)
c.276+16202T>A (n.276+16202T>A)
c.*220+6342A>T (n.*220+6342A>T)
c.958A>T (p.Ser320Cys)
c.985A>T (p.Ser329Cys)
c.1840A>T (p.Ser614Cys)
c.1654A>T (p.Ser552Cys)
c.1573A>T (p.Ser525Cys)
c.1279A>T (p.Ser427Cys)
c.1660A>T (p.Ser554Cys)
2g.48687882T>CCA46752607GTF2A1L,LHCGR,STON1-GTF2A1Lc.1915A>G (p.Ser639Gly)
c.*227A>G (n.*227A>G)
c.3441+16202T>C (n.3441+16202T>C)
c.*659A>G (n.*659A>G)
c.1834A>G (p.Ser612Gly)
c.276+16202T>C (n.276+16202T>C)
c.*220+6342A>G (n.*220+6342A>G)
c.958A>G (p.Ser320Gly)
c.985A>G (p.Ser329Gly)
c.1840A>G (p.Ser614Gly)
c.1654A>G (p.Ser552Gly)
c.1573A>G (p.Ser525Gly)
c.1279A>G (p.Ser427Gly)
c.1660A>G (p.Ser554Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.48687882T>GCA346743797GTF2A1L,LHCGR,STON1-GTF2A1Lc.1915A>C (p.Ser639Arg)
c.*227A>C (n.*227A>C)
c.3441+16202T>G (n.3441+16202T>G)
c.*659A>C (n.*659A>C)
c.1834A>C (p.Ser612Arg)
c.276+16202T>G (n.276+16202T>G)
c.*220+6342A>C (n.*220+6342A>C)
c.958A>C (p.Ser320Arg)
c.985A>C (p.Ser329Arg)
c.1840A>C (p.Ser614Arg)
c.1654A>C (p.Ser552Arg)
c.1573A>C (p.Ser525Arg)
c.1279A>C (p.Ser427Arg)
c.1660A>C (p.Ser554Arg)
2g.48687882T=CA1248600890GTF2A1L,LHCGR,STON1-GTF2A1Lc.1915A= (p.Ser639=)
c.*227A= (n.*227A=)
c.3441+16202T= (n.3441+16202T=)
c.*659A= (n.*659A=)
c.1834A= (p.Ser612=)
c.276+16202T= (n.276+16202T=)
c.*220+6342A= (n.*220+6342A=)
c.958A= (p.Ser320=)
c.985A= (p.Ser329=)
c.1840A= (p.Ser614=)
c.1654A= (p.Ser552=)
c.1573A= (p.Ser525=)
c.1279A= (p.Ser427=)
c.1660A= (p.Ser554=)
2g.48687883C>ACA426125264GTF2A1L,LHCGR,STON1-GTF2A1Lc.1914G>T (p.Leu638=)
c.*226G>T (n.*226G>T)
c.3441+16203C>A (n.3441+16203C>A)
c.*658G>T (n.*658G>T)
c.1833G>T (p.Leu611=)
c.276+16203C>A (n.276+16203C>A)
c.*220+6341G>T (n.*220+6341G>T)
c.957G>T (p.Leu319=)
c.984G>T (p.Leu328=)
c.1839G>T (p.Leu613=)
c.1653G>T (p.Leu551=)
c.1572G>T (p.Leu524=)
c.1278G>T (p.Leu426=)
c.1659G>T (p.Leu553=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.48687883C=CA1248600891GTF2A1L,LHCGR,STON1-GTF2A1Lc.1914G= (p.Leu638=)
c.*226G= (n.*226G=)
c.3441+16203C= (n.3441+16203C=)
c.*658G= (n.*658G=)
c.1833G= (p.Leu611=)
c.276+16203C= (n.276+16203C=)
c.*220+6341G= (n.*220+6341G=)
c.957G= (p.Leu319=)
c.984G= (p.Leu328=)
c.1839G= (p.Leu613=)
c.1653G= (p.Leu551=)
c.1572G= (p.Leu524=)
c.1278G= (p.Leu426=)
c.1659G= (p.Leu553=)
2g.48687883C>GCA426125265GTF2A1L,LHCGR,STON1-GTF2A1Lc.1914G>C (p.Leu638=)
c.*226G>C (n.*226G>C)
c.3441+16203C>G (n.3441+16203C>G)
c.*658G>C (n.*658G>C)
c.1833G>C (p.Leu611=)
c.276+16203C>G (n.276+16203C>G)
c.*220+6341G>C (n.*220+6341G>C)
c.957G>C (p.Leu319=)
c.984G>C (p.Leu328=)
c.1839G>C (p.Leu613=)
c.1653G>C (p.Leu551=)
c.1572G>C (p.Leu524=)
c.1278G>C (p.Leu426=)
c.1659G>C (p.Leu553=)
 gnomAD v4
2g.48687883C>TCA426125268GTF2A1L,LHCGR,STON1-GTF2A1Lc.1914G>A (p.Leu638=)
c.*226G>A (n.*226G>A)
c.3441+16203C>T (n.3441+16203C>T)
c.*658G>A (n.*658G>A)
c.1833G>A (p.Leu611=)
c.276+16203C>T (n.276+16203C>T)
c.*220+6341G>A (n.*220+6341G>A)
c.957G>A (p.Leu319=)
c.984G>A (p.Leu328=)
c.1839G>A (p.Leu613=)
c.1653G>A (p.Leu551=)
c.1572G>A (p.Leu524=)
c.1278G>A (p.Leu426=)
c.1659G>A (p.Leu553=)
 dbSNP gnomAD v2 gnomAD v4
2g.48687883_48687884delinsCACA1248600892GTF2A1L,LHCGR,STON1-GTF2A1Lc.1913_1914delinsTG (p.Leu638=)
c.*225_*226delinsTG (n.*225_*226delinsTG)
c.3441+16203_3441+16204delinsCA (n.3441+16203_3441+16204delinsCA)
c.*657_*658delinsTG (n.*657_*658delinsTG)
c.1832_1833delinsTG (p.Leu611=)
c.276+16203_276+16204delinsCA (n.276+16203_276+16204delinsCA)
c.*220+6340_*220+6341delinsTG (n.*220+6340_*220+6341delinsTG)
c.956_957delinsTG (p.Leu319=)
c.983_984delinsTG (p.Leu328=)
c.1838_1839delinsTG (p.Leu613=)
c.1652_1653delinsTG (p.Leu551=)
c.1571_1572delinsTG (p.Leu524=)
c.1277_1278delinsTG (p.Leu426=)
c.1658_1659delinsTG (p.Leu553=)
2g.48687884delCA1030377921GTF2A1L,LHCGR,STON1-GTF2A1Lc.1913del (p.Leu638ArgfsTer?)
c.*225del (n.*225del)
c.3441+16204del (n.3441+16204del)
c.*657del (n.*657del)
c.1832del (p.Leu611ArgfsTer?)
c.276+16204del (n.276+16204del)
c.*220+6340del (n.*220+6340del)
c.956del (p.Leu319ArgfsTer?)
c.983del (p.Leu328ArgfsTer?)
c.1838del (p.Leu613ArgfsTer?)
c.1652del (p.Leu551ArgfsTer?)
c.1571del (p.Leu524ArgfsTer?)
c.1277del (p.Leu426ArgfsTer?)
c.1658del (p.Leu553ArgfsTer?)
 dbSNP gnomAD v3 gnomAD v4
2g.48687884A=CA1248600893GTF2A1L,LHCGR,STON1-GTF2A1Lc.1913T= (p.Leu638=)
c.*225T= (n.*225T=)
c.3441+16204A= (n.3441+16204A=)
c.*657T= (n.*657T=)
c.1832T= (p.Leu611=)
c.276+16204A= (n.276+16204A=)
c.*220+6340T= (n.*220+6340T=)
c.956T= (p.Leu319=)
c.983T= (p.Leu328=)
c.1838T= (p.Leu613=)
c.1652T= (p.Leu551=)
c.1571T= (p.Leu524=)
c.1277T= (p.Leu426=)
c.1658T= (p.Leu553=)
2g.48687884A>CCA346743802GTF2A1L,LHCGR,STON1-GTF2A1Lc.1913T>G (p.Leu638Arg)
c.*225T>G (n.*225T>G)
c.3441+16204A>C (n.3441+16204A>C)
c.*657T>G (n.*657T>G)
c.1832T>G (p.Leu611Arg)
c.276+16204A>C (n.276+16204A>C)
c.*220+6340T>G (n.*220+6340T>G)
c.956T>G (p.Leu319Arg)
c.983T>G (p.Leu328Arg)
c.1838T>G (p.Leu613Arg)
c.1652T>G (p.Leu551Arg)
c.1571T>G (p.Leu524Arg)
c.1277T>G (p.Leu426Arg)
c.1658T>G (p.Leu553Arg)
2g.48687884A>GCA1652971GTF2A1L,LHCGR,STON1-GTF2A1Lc.1913T>C (p.Leu638Pro)
c.*225T>C (n.*225T>C)
c.3441+16204A>G (n.3441+16204A>G)
c.*657T>C (n.*657T>C)
c.1832T>C (p.Leu611Pro)
c.276+16204A>G (n.276+16204A>G)
c.*220+6340T>C (n.*220+6340T>C)
c.956T>C (p.Leu319Pro)
c.983T>C (p.Leu328Pro)
c.1838T>C (p.Leu613Pro)
c.1652T>C (p.Leu551Pro)
c.1571T>C (p.Leu524Pro)
c.1277T>C (p.Leu426Pro)
c.1658T>C (p.Leu553Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687884A>TCA346743806GTF2A1L,LHCGR,STON1-GTF2A1Lc.1913T>A (p.Leu638Gln)
c.*225T>A (n.*225T>A)
c.3441+16204A>T (n.3441+16204A>T)
c.*657T>A (n.*657T>A)
c.1832T>A (p.Leu611Gln)
c.276+16204A>T (n.276+16204A>T)
c.*220+6340T>A (n.*220+6340T>A)
c.956T>A (p.Leu319Gln)
c.983T>A (p.Leu328Gln)
c.1838T>A (p.Leu613Gln)
c.1652T>A (p.Leu551Gln)
c.1571T>A (p.Leu524Gln)
c.1277T>A (p.Leu426Gln)
c.1658T>A (p.Leu553Gln)
2g.48687885G>ACA426125272GTF2A1L,LHCGR,STON1-GTF2A1Lc.1912C>T (p.Leu638=)
c.*224C>T (n.*224C>T)
c.3441+16205G>A (n.3441+16205G>A)
c.*656C>T (n.*656C>T)
c.1831C>T (p.Leu611=)
c.276+16205G>A (n.276+16205G>A)
c.*220+6339C>T (n.*220+6339C>T)
c.955C>T (p.Leu319=)
c.982C>T (p.Leu328=)
c.1837C>T (p.Leu613=)
c.1651C>T (p.Leu551=)
c.1570C>T (p.Leu524=)
c.1276C>T (p.Leu426=)
c.1657C>T (p.Leu553=)
 gnomAD v4
2g.48687885G>CCA346743809GTF2A1L,LHCGR,STON1-GTF2A1Lc.1912C>G (p.Leu638Val)
c.*224C>G (n.*224C>G)
c.3441+16205G>C (n.3441+16205G>C)
c.*656C>G (n.*656C>G)
c.1831C>G (p.Leu611Val)
c.276+16205G>C (n.276+16205G>C)
c.*220+6339C>G (n.*220+6339C>G)
c.955C>G (p.Leu319Val)
c.982C>G (p.Leu328Val)
c.1837C>G (p.Leu613Val)
c.1651C>G (p.Leu551Val)
c.1570C>G (p.Leu524Val)
c.1276C>G (p.Leu426Val)
c.1657C>G (p.Leu553Val)
2g.48687885G>TCA346743812GTF2A1L,LHCGR,STON1-GTF2A1Lc.1912C>A (p.Leu638Met)
c.*224C>A (n.*224C>A)
c.3441+16205G>T (n.3441+16205G>T)
c.*656C>A (n.*656C>A)
c.1831C>A (p.Leu611Met)
c.276+16205G>T (n.276+16205G>T)
c.*220+6339C>A (n.*220+6339C>A)
c.955C>A (p.Leu319Met)
c.982C>A (p.Leu328Met)
c.1837C>A (p.Leu613Met)
c.1651C>A (p.Leu551Met)
c.1570C>A (p.Leu524Met)
c.1276C>A (p.Leu426Met)
c.1657C>A (p.Leu553Met)
2g.48687886C>ACA346743815GTF2A1L,LHCGR,STON1-GTF2A1Lc.1911G>T (p.Leu637Phe)
c.*223G>T (n.*223G>T)
c.3441+16206C>A (n.3441+16206C>A)
c.*655G>T (n.*655G>T)
c.1830G>T (p.Leu610Phe)
c.276+16206C>A (n.276+16206C>A)
c.*220+6338G>T (n.*220+6338G>T)
c.954G>T (p.Leu318Phe)
c.981G>T (p.Leu327Phe)
c.1836G>T (p.Leu612Phe)
c.1650G>T (p.Leu550Phe)
c.1569G>T (p.Leu523Phe)
c.1275G>T (p.Leu425Phe)
c.1656G>T (p.Leu552Phe)
2g.48687886C>GCA346743817GTF2A1L,LHCGR,STON1-GTF2A1Lc.1911G>C (p.Leu637Phe)
c.*223G>C (n.*223G>C)
c.3441+16206C>G (n.3441+16206C>G)
c.*655G>C (n.*655G>C)
c.1830G>C (p.Leu610Phe)
c.276+16206C>G (n.276+16206C>G)
c.*220+6338G>C (n.*220+6338G>C)
c.954G>C (p.Leu318Phe)
c.981G>C (p.Leu327Phe)
c.1836G>C (p.Leu612Phe)
c.1650G>C (p.Leu550Phe)
c.1569G>C (p.Leu523Phe)
c.1275G>C (p.Leu425Phe)
c.1656G>C (p.Leu552Phe)
2g.48687886C>TCA426125276GTF2A1L,LHCGR,STON1-GTF2A1Lc.1911G>A (p.Leu637=)
c.*223G>A (n.*223G>A)
c.3441+16206C>T (n.3441+16206C>T)
c.*655G>A (n.*655G>A)
c.1830G>A (p.Leu610=)
c.276+16206C>T (n.276+16206C>T)
c.*220+6338G>A (n.*220+6338G>A)
c.954G>A (p.Leu318=)
c.981G>A (p.Leu327=)
c.1836G>A (p.Leu612=)
c.1650G>A (p.Leu550=)
c.1569G>A (p.Leu523=)
c.1275G>A (p.Leu425=)
c.1656G>A (p.Leu552=)
2g.48687887A>CCA346743821GTF2A1L,LHCGR,STON1-GTF2A1Lc.1910T>G (p.Leu637Trp)
c.*222T>G (n.*222T>G)
c.3441+16207A>C (n.3441+16207A>C)
c.*654T>G (n.*654T>G)
c.1829T>G (p.Leu610Trp)
c.276+16207A>C (n.276+16207A>C)
c.*220+6337T>G (n.*220+6337T>G)
c.953T>G (p.Leu318Trp)
c.980T>G (p.Leu327Trp)
c.1835T>G (p.Leu612Trp)
c.1649T>G (p.Leu550Trp)
c.1568T>G (p.Leu523Trp)
c.1274T>G (p.Leu425Trp)
c.1655T>G (p.Leu552Trp)
2g.48687887A>GCA346743823GTF2A1L,LHCGR,STON1-GTF2A1Lc.1910T>C (p.Leu637Ser)
c.*222T>C (n.*222T>C)
c.3441+16207A>G (n.3441+16207A>G)
c.*654T>C (n.*654T>C)
c.1829T>C (p.Leu610Ser)
c.276+16207A>G (n.276+16207A>G)
c.*220+6337T>C (n.*220+6337T>C)
c.953T>C (p.Leu318Ser)
c.980T>C (p.Leu327Ser)
c.1835T>C (p.Leu612Ser)
c.1649T>C (p.Leu550Ser)
c.1568T>C (p.Leu523Ser)
c.1274T>C (p.Leu425Ser)
c.1655T>C (p.Leu552Ser)
2g.48687887A>TCA346743825GTF2A1L,LHCGR,STON1-GTF2A1Lc.1910T>A (p.Leu637Ter)
c.*222T>A (n.*222T>A)
c.3441+16207A>T (n.3441+16207A>T)
c.*654T>A (n.*654T>A)
c.1829T>A (p.Leu610Ter)
c.276+16207A>T (n.276+16207A>T)
c.*220+6337T>A (n.*220+6337T>A)
c.953T>A (p.Leu318Ter)
c.980T>A (p.Leu327Ter)
c.1835T>A (p.Leu612Ter)
c.1649T>A (p.Leu550Ter)
c.1568T>A (p.Leu523Ter)
c.1274T>A (p.Leu425Ter)
c.1655T>A (p.Leu552Ter)
2g.48687888A>CCA346743828GTF2A1L,LHCGR,STON1-GTF2A1Lc.1909T>G (p.Leu637Val)
c.*221T>G (n.*221T>G)
c.3441+16208A>C (n.3441+16208A>C)
c.*653T>G (n.*653T>G)
c.1828T>G (p.Leu610Val)
c.276+16208A>C (n.276+16208A>C)
c.*220+6336T>G (n.*220+6336T>G)
c.952T>G (p.Leu318Val)
c.979T>G (p.Leu327Val)
c.1834T>G (p.Leu612Val)
c.1648T>G (p.Leu550Val)
c.1567T>G (p.Leu523Val)
c.1273T>G (p.Leu425Val)
c.1654T>G (p.Leu552Val)
2g.48687888A>GCA426125293GTF2A1L,LHCGR,STON1-GTF2A1Lc.1909T>C (p.Leu637=)
c.*221T>C (n.*221T>C)
c.3441+16208A>G (n.3441+16208A>G)
c.*653T>C (n.*653T>C)
c.1828T>C (p.Leu610=)
c.276+16208A>G (n.276+16208A>G)
c.*220+6336T>C (n.*220+6336T>C)
c.952T>C (p.Leu318=)
c.979T>C (p.Leu327=)
c.1834T>C (p.Leu612=)
c.1648T>C (p.Leu550=)
c.1567T>C (p.Leu523=)
c.1273T>C (p.Leu425=)
c.1654T>C (p.Leu552=)
2g.48687888A>TCA346743830GTF2A1L,LHCGR,STON1-GTF2A1Lc.1909T>A (p.Leu637Met)
c.*221T>A (n.*221T>A)
c.3441+16208A>T (n.3441+16208A>T)
c.*653T>A (n.*653T>A)
c.1828T>A (p.Leu610Met)
c.276+16208A>T (n.276+16208A>T)
c.*220+6336T>A (n.*220+6336T>A)
c.952T>A (p.Leu318Met)
c.979T>A (p.Leu327Met)
c.1834T>A (p.Leu612Met)
c.1648T>A (p.Leu550Met)
c.1567T>A (p.Leu523Met)
c.1273T>A (p.Leu425Met)
c.1654T>A (p.Leu552Met)
2g.48687889A>CCA426125300GTF2A1L,LHCGR,STON1-GTF2A1Lc.1908T>G (p.Leu636=)
c.*220T>G (n.*220T>G)
c.3441+16209A>C (n.3441+16209A>C)
c.*652T>G (n.*652T>G)
c.1827T>G (p.Leu609=)
c.276+16209A>C (n.276+16209A>C)
c.*220+6335T>G (n.*220+6335T>G)
c.951T>G (p.Leu317=)
c.978T>G (p.Leu326=)
c.1833T>G (p.Leu611=)
c.1647T>G (p.Leu549=)
c.1566T>G (p.Leu522=)
c.1272T>G (p.Leu424=)
c.1653T>G (p.Leu551=)
 dbSNP
2g.48687889A>GCA426125298GTF2A1L,LHCGR,STON1-GTF2A1Lc.1908T>C (p.Leu636=)
c.*220T>C (n.*220T>C)
c.3441+16209A>G (n.3441+16209A>G)
c.*652T>C (n.*652T>C)
c.1827T>C (p.Leu609=)
c.276+16209A>G (n.276+16209A>G)
c.*220+6335T>C (n.*220+6335T>C)
c.951T>C (p.Leu317=)
c.978T>C (p.Leu326=)
c.1833T>C (p.Leu611=)
c.1647T>C (p.Leu549=)
c.1566T>C (p.Leu522=)
c.1272T>C (p.Leu424=)
c.1653T>C (p.Leu551=)
2g.48687889A>TCA426125296GTF2A1L,LHCGR,STON1-GTF2A1Lc.1908T>A (p.Leu636=)
c.*220T>A (n.*220T>A)
c.3441+16209A>T (n.3441+16209A>T)
c.*652T>A (n.*652T>A)
c.1827T>A (p.Leu609=)
c.276+16209A>T (n.276+16209A>T)
c.*220+6335T>A (n.*220+6335T>A)
c.951T>A (p.Leu317=)
c.978T>A (p.Leu326=)
c.1833T>A (p.Leu611=)
c.1647T>A (p.Leu549=)
c.1566T>A (p.Leu522=)
c.1272T>A (p.Leu424=)
c.1653T>A (p.Leu551=)
2g.48687890A>CCA346743839GTF2A1L,LHCGR,STON1-GTF2A1Lc.1907T>G (p.Leu636Arg)
c.*219T>G (n.*219T>G)
c.3441+16210A>C (n.3441+16210A>C)
c.*651T>G (n.*651T>G)
c.1826T>G (p.Leu609Arg)
c.276+16210A>C (n.276+16210A>C)
c.*220+6334T>G (n.*220+6334T>G)
c.950T>G (p.Leu317Arg)
c.977T>G (p.Leu326Arg)
c.1832T>G (p.Leu611Arg)
c.1646T>G (p.Leu549Arg)
c.1565T>G (p.Leu522Arg)
c.1271T>G (p.Leu424Arg)
c.1652T>G (p.Leu551Arg)
2g.48687890A>GCA346743836GTF2A1L,LHCGR,STON1-GTF2A1Lc.1907T>C (p.Leu636Pro)
c.*219T>C (n.*219T>C)
c.3441+16210A>G (n.3441+16210A>G)
c.*651T>C (n.*651T>C)
c.1826T>C (p.Leu609Pro)
c.276+16210A>G (n.276+16210A>G)
c.*220+6334T>C (n.*220+6334T>C)
c.950T>C (p.Leu317Pro)
c.977T>C (p.Leu326Pro)
c.1832T>C (p.Leu611Pro)
c.1646T>C (p.Leu549Pro)
c.1565T>C (p.Leu522Pro)
c.1271T>C (p.Leu424Pro)
c.1652T>C (p.Leu551Pro)
2g.48687890A>TCA346743835GTF2A1L,LHCGR,STON1-GTF2A1Lc.1907T>A (p.Leu636His)
c.*219T>A (n.*219T>A)
c.3441+16210A>T (n.3441+16210A>T)
c.*651T>A (n.*651T>A)
c.1826T>A (p.Leu609His)
c.276+16210A>T (n.276+16210A>T)
c.*220+6334T>A (n.*220+6334T>A)
c.950T>A (p.Leu317His)
c.977T>A (p.Leu326His)
c.1832T>A (p.Leu611His)
c.1646T>A (p.Leu549His)
c.1565T>A (p.Leu522His)
c.1271T>A (p.Leu424His)
c.1652T>A (p.Leu551His)
2g.48687891G>ACA346743842GTF2A1L,LHCGR,STON1-GTF2A1Lc.1906C>T (p.Leu636Phe)
c.*218C>T (n.*218C>T)
c.3441+16211G>A (n.3441+16211G>A)
c.*650C>T (n.*650C>T)
c.1825C>T (p.Leu609Phe)
c.276+16211G>A (n.276+16211G>A)
c.*220+6333C>T (n.*220+6333C>T)
c.949C>T (p.Leu317Phe)
c.976C>T (p.Leu326Phe)
c.1831C>T (p.Leu611Phe)
c.1645C>T (p.Leu549Phe)
c.1564C>T (p.Leu522Phe)
c.1270C>T (p.Leu424Phe)
c.1651C>T (p.Leu551Phe)
 COSMIC
2g.48687891G>CCA346743840GTF2A1L,LHCGR,STON1-GTF2A1Lc.1906C>G (p.Leu636Val)
c.*218C>G (n.*218C>G)
c.3441+16211G>C (n.3441+16211G>C)
c.*650C>G (n.*650C>G)
c.1825C>G (p.Leu609Val)
c.276+16211G>C (n.276+16211G>C)
c.*220+6333C>G (n.*220+6333C>G)
c.949C>G (p.Leu317Val)
c.976C>G (p.Leu326Val)
c.1831C>G (p.Leu611Val)
c.1645C>G (p.Leu549Val)
c.1564C>G (p.Leu522Val)
c.1270C>G (p.Leu424Val)
c.1651C>G (p.Leu551Val)
 gnomAD v4
2g.48687891G>TCA346743843GTF2A1L,LHCGR,STON1-GTF2A1Lc.1906C>A (p.Leu636Ile)
c.*218C>A (n.*218C>A)
c.3441+16211G>T (n.3441+16211G>T)
c.*650C>A (n.*650C>A)
c.1825C>A (p.Leu609Ile)
c.276+16211G>T (n.276+16211G>T)
c.*220+6333C>A (n.*220+6333C>A)
c.949C>A (p.Leu317Ile)
c.976C>A (p.Leu326Ile)
c.1831C>A (p.Leu611Ile)
c.1645C>A (p.Leu549Ile)
c.1564C>A (p.Leu522Ile)
c.1270C>A (p.Leu424Ile)
c.1651C>A (p.Leu551Ile)
 COSMIC
2g.48687892A=CA1248600894GTF2A1L,LHCGR,STON1-GTF2A1Lc.1905T= (p.Phe635=)
c.*217T= (n.*217T=)
c.3441+16212A= (n.3441+16212A=)
c.*649T= (n.*649T=)
c.1824T= (p.Phe608=)
c.276+16212A= (n.276+16212A=)
c.*220+6332T= (n.*220+6332T=)
c.948T= (p.Phe316=)
c.975T= (p.Phe325=)
c.1830T= (p.Phe610=)
c.1644T= (p.Phe548=)
c.1563T= (p.Phe521=)
c.1269T= (p.Phe423=)
c.1650T= (p.Phe550=)
2g.48687892A>CCA346743847GTF2A1L,LHCGR,STON1-GTF2A1Lc.1905T>G (p.Phe635Leu)
c.*217T>G (n.*217T>G)
c.3441+16212A>C (n.3441+16212A>C)
c.*649T>G (n.*649T>G)
c.1824T>G (p.Phe608Leu)
c.276+16212A>C (n.276+16212A>C)
c.*220+6332T>G (n.*220+6332T>G)
c.948T>G (p.Phe316Leu)
c.975T>G (p.Phe325Leu)
c.1830T>G (p.Phe610Leu)
c.1644T>G (p.Phe548Leu)
c.1563T>G (p.Phe521Leu)
c.1269T>G (p.Phe423Leu)
c.1650T>G (p.Phe550Leu)
2g.48687892A>GCA426125306GTF2A1L,LHCGR,STON1-GTF2A1Lc.1905T>C (p.Phe635=)
c.*217T>C (n.*217T>C)
c.3441+16212A>G (n.3441+16212A>G)
c.*649T>C (n.*649T>C)
c.1824T>C (p.Phe608=)
c.276+16212A>G (n.276+16212A>G)
c.*220+6332T>C (n.*220+6332T>C)
c.948T>C (p.Phe316=)
c.975T>C (p.Phe325=)
c.1830T>C (p.Phe610=)
c.1644T>C (p.Phe548=)
c.1563T>C (p.Phe521=)
c.1269T>C (p.Phe423=)
c.1650T>C (p.Phe550=)
 dbSNP gnomAD v3 gnomAD v4
2g.48687892A>TCA346743848GTF2A1L,LHCGR,STON1-GTF2A1Lc.1905T>A (p.Phe635Leu)
c.*217T>A (n.*217T>A)
c.3441+16212A>T (n.3441+16212A>T)
c.*649T>A (n.*649T>A)
c.1824T>A (p.Phe608Leu)
c.276+16212A>T (n.276+16212A>T)
c.*220+6332T>A (n.*220+6332T>A)
c.948T>A (p.Phe316Leu)
c.975T>A (p.Phe325Leu)
c.1830T>A (p.Phe610Leu)
c.1644T>A (p.Phe548Leu)
c.1563T>A (p.Phe521Leu)
c.1269T>A (p.Phe423Leu)
c.1650T>A (p.Phe550Leu)
2g.48687893A>CCA346743851GTF2A1L,LHCGR,STON1-GTF2A1Lc.1904T>G (p.Phe635Cys)
c.*216T>G (n.*216T>G)
c.3441+16213A>C (n.3441+16213A>C)
c.*648T>G (n.*648T>G)
c.1823T>G (p.Phe608Cys)
c.276+16213A>C (n.276+16213A>C)
c.*220+6331T>G (n.*220+6331T>G)
c.947T>G (p.Phe316Cys)
c.974T>G (p.Phe325Cys)
c.1829T>G (p.Phe610Cys)
c.1643T>G (p.Phe548Cys)
c.1562T>G (p.Phe521Cys)
c.1268T>G (p.Phe423Cys)
c.1649T>G (p.Phe550Cys)
2g.48687893A>GCA346743854GTF2A1L,LHCGR,STON1-GTF2A1Lc.1904T>C (p.Phe635Ser)
c.*216T>C (n.*216T>C)
c.3441+16213A>G (n.3441+16213A>G)
c.*648T>C (n.*648T>C)
c.1823T>C (p.Phe608Ser)
c.276+16213A>G (n.276+16213A>G)
c.*220+6331T>C (n.*220+6331T>C)
c.947T>C (p.Phe316Ser)
c.974T>C (p.Phe325Ser)
c.1829T>C (p.Phe610Ser)
c.1643T>C (p.Phe548Ser)
c.1562T>C (p.Phe521Ser)
c.1268T>C (p.Phe423Ser)
c.1649T>C (p.Phe550Ser)
 gnomAD v4
2g.48687893A>TCA346743856GTF2A1L,LHCGR,STON1-GTF2A1Lc.1904T>A (p.Phe635Tyr)
c.*216T>A (n.*216T>A)
c.3441+16213A>T (n.3441+16213A>T)
c.*648T>A (n.*648T>A)
c.1823T>A (p.Phe608Tyr)
c.276+16213A>T (n.276+16213A>T)
c.*220+6331T>A (n.*220+6331T>A)
c.947T>A (p.Phe316Tyr)
c.974T>A (p.Phe325Tyr)
c.1829T>A (p.Phe610Tyr)
c.1643T>A (p.Phe548Tyr)
c.1562T>A (p.Phe521Tyr)
c.1268T>A (p.Phe423Tyr)
c.1649T>A (p.Phe550Tyr)
 COSMIC

Number of alleles fetched