Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.48687894A>CCA346743859GTF2A1L,LHCGR,STON1-GTF2A1Lc.1903T>G (p.Phe635Val)
c.*215T>G (n.*215T>G)
c.3441+16214A>C (n.3441+16214A>C)
c.*647T>G (n.*647T>G)
c.1822T>G (p.Phe608Val)
c.276+16214A>C (n.276+16214A>C)
c.*220+6330T>G (n.*220+6330T>G)
c.946T>G (p.Phe316Val)
c.973T>G (p.Phe325Val)
c.1828T>G (p.Phe610Val)
c.1642T>G (p.Phe548Val)
c.1561T>G (p.Phe521Val)
c.1267T>G (p.Phe423Val)
c.1648T>G (p.Phe550Val)
2g.48687894A>GCA346743861GTF2A1L,LHCGR,STON1-GTF2A1Lc.1903T>C (p.Phe635Leu)
c.*215T>C (n.*215T>C)
c.3441+16214A>G (n.3441+16214A>G)
c.*647T>C (n.*647T>C)
c.1822T>C (p.Phe608Leu)
c.276+16214A>G (n.276+16214A>G)
c.*220+6330T>C (n.*220+6330T>C)
c.946T>C (p.Phe316Leu)
c.973T>C (p.Phe325Leu)
c.1828T>C (p.Phe610Leu)
c.1642T>C (p.Phe548Leu)
c.1561T>C (p.Phe521Leu)
c.1267T>C (p.Phe423Leu)
c.1648T>C (p.Phe550Leu)
2g.48687894A>TCA346743864GTF2A1L,LHCGR,STON1-GTF2A1Lc.1903T>A (p.Phe635Ile)
c.*215T>A (n.*215T>A)
c.3441+16214A>T (n.3441+16214A>T)
c.*647T>A (n.*647T>A)
c.1822T>A (p.Phe608Ile)
c.276+16214A>T (n.276+16214A>T)
c.*220+6330T>A (n.*220+6330T>A)
c.946T>A (p.Phe316Ile)
c.973T>A (p.Phe325Ile)
c.1828T>A (p.Phe610Ile)
c.1642T>A (p.Phe548Ile)
c.1561T>A (p.Phe521Ile)
c.1267T>A (p.Phe423Ile)
c.1648T>A (p.Phe550Ile)
2g.48687895G>ACA426125320GTF2A1L,LHCGR,STON1-GTF2A1Lc.1902C>T (p.Phe634=)
c.*214C>T (n.*214C>T)
c.3441+16215G>A (n.3441+16215G>A)
c.*646C>T (n.*646C>T)
c.1821C>T (p.Phe607=)
c.276+16215G>A (n.276+16215G>A)
c.*220+6329C>T (n.*220+6329C>T)
c.945C>T (p.Phe315=)
c.972C>T (p.Phe324=)
c.1827C>T (p.Phe609=)
c.1641C>T (p.Phe547=)
c.1560C>T (p.Phe520=)
c.1266C>T (p.Phe422=)
c.1647C>T (p.Phe549=)
 gnomAD v4 COSMIC
2g.48687895G>CCA346743866GTF2A1L,LHCGR,STON1-GTF2A1Lc.1902C>G (p.Phe634Leu)
c.*214C>G (n.*214C>G)
c.3441+16215G>C (n.3441+16215G>C)
c.*646C>G (n.*646C>G)
c.1821C>G (p.Phe607Leu)
c.276+16215G>C (n.276+16215G>C)
c.*220+6329C>G (n.*220+6329C>G)
c.945C>G (p.Phe315Leu)
c.972C>G (p.Phe324Leu)
c.1827C>G (p.Phe609Leu)
c.1641C>G (p.Phe547Leu)
c.1560C>G (p.Phe520Leu)
c.1266C>G (p.Phe422Leu)
c.1647C>G (p.Phe549Leu)
2g.48687895G=CA1248600895GTF2A1L,LHCGR,STON1-GTF2A1Lc.1902C= (p.Phe634=)
c.*214C= (n.*214C=)
c.3441+16215G= (n.3441+16215G=)
c.*646C= (n.*646C=)
c.1821C= (p.Phe607=)
c.276+16215G= (n.276+16215G=)
c.*220+6329C= (n.*220+6329C=)
c.945C= (p.Phe315=)
c.972C= (p.Phe324=)
c.1827C= (p.Phe609=)
c.1641C= (p.Phe547=)
c.1560C= (p.Phe520=)
c.1266C= (p.Phe422=)
c.1647C= (p.Phe549=)
2g.48687895G>TCA346743868GTF2A1L,LHCGR,STON1-GTF2A1Lc.1902C>A (p.Phe634Leu)
c.*214C>A (n.*214C>A)
c.3441+16215G>T (n.3441+16215G>T)
c.*646C>A (n.*646C>A)
c.1821C>A (p.Phe607Leu)
c.276+16215G>T (n.276+16215G>T)
c.*220+6329C>A (n.*220+6329C>A)
c.945C>A (p.Phe315Leu)
c.972C>A (p.Phe324Leu)
c.1827C>A (p.Phe609Leu)
c.1641C>A (p.Phe547Leu)
c.1560C>A (p.Phe520Leu)
c.1266C>A (p.Phe422Leu)
c.1647C>A (p.Phe549Leu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.48687896A>CCA346743869GTF2A1L,LHCGR,STON1-GTF2A1Lc.1901T>G (p.Phe634Cys)
c.*213T>G (n.*213T>G)
c.3441+16216A>C (n.3441+16216A>C)
c.*645T>G (n.*645T>G)
c.1820T>G (p.Phe607Cys)
c.276+16216A>C (n.276+16216A>C)
c.*220+6328T>G (n.*220+6328T>G)
c.944T>G (p.Phe315Cys)
c.971T>G (p.Phe324Cys)
c.1826T>G (p.Phe609Cys)
c.1640T>G (p.Phe547Cys)
c.1559T>G (p.Phe520Cys)
c.1265T>G (p.Phe422Cys)
c.1646T>G (p.Phe549Cys)
2g.48687896A>GCA346743870GTF2A1L,LHCGR,STON1-GTF2A1Lc.1901T>C (p.Phe634Ser)
c.*213T>C (n.*213T>C)
c.3441+16216A>G (n.3441+16216A>G)
c.*645T>C (n.*645T>C)
c.1820T>C (p.Phe607Ser)
c.276+16216A>G (n.276+16216A>G)
c.*220+6328T>C (n.*220+6328T>C)
c.944T>C (p.Phe315Ser)
c.971T>C (p.Phe324Ser)
c.1826T>C (p.Phe609Ser)
c.1640T>C (p.Phe547Ser)
c.1559T>C (p.Phe520Ser)
c.1265T>C (p.Phe422Ser)
c.1646T>C (p.Phe549Ser)
2g.48687896A>TCA346743872GTF2A1L,LHCGR,STON1-GTF2A1Lc.1901T>A (p.Phe634Tyr)
c.*213T>A (n.*213T>A)
c.3441+16216A>T (n.3441+16216A>T)
c.*645T>A (n.*645T>A)
c.1820T>A (p.Phe607Tyr)
c.276+16216A>T (n.276+16216A>T)
c.*220+6328T>A (n.*220+6328T>A)
c.944T>A (p.Phe315Tyr)
c.971T>A (p.Phe324Tyr)
c.1826T>A (p.Phe609Tyr)
c.1640T>A (p.Phe547Tyr)
c.1559T>A (p.Phe520Tyr)
c.1265T>A (p.Phe422Tyr)
c.1646T>A (p.Phe549Tyr)
2g.48687897A=CA1248600896GTF2A1L,LHCGR,STON1-GTF2A1Lc.1900T= (p.Phe634=)
c.*212T= (n.*212T=)
c.3441+16217A= (n.3441+16217A=)
c.*644T= (n.*644T=)
c.1819T= (p.Phe607=)
c.276+16217A= (n.276+16217A=)
c.*220+6327T= (n.*220+6327T=)
c.943T= (p.Phe315=)
c.970T= (p.Phe324=)
c.1825T= (p.Phe609=)
c.1639T= (p.Phe547=)
c.1558T= (p.Phe520=)
c.1264T= (p.Phe422=)
c.1645T= (p.Phe549=)
2g.48687897A>CCA346743875GTF2A1L,LHCGR,STON1-GTF2A1Lc.1900T>G (p.Phe634Val)
c.*212T>G (n.*212T>G)
c.3441+16217A>C (n.3441+16217A>C)
c.*644T>G (n.*644T>G)
c.1819T>G (p.Phe607Val)
c.276+16217A>C (n.276+16217A>C)
c.*220+6327T>G (n.*220+6327T>G)
c.943T>G (p.Phe315Val)
c.970T>G (p.Phe324Val)
c.1825T>G (p.Phe609Val)
c.1639T>G (p.Phe547Val)
c.1558T>G (p.Phe520Val)
c.1264T>G (p.Phe422Val)
c.1645T>G (p.Phe549Val)
2g.48687897A>GCA346743879GTF2A1L,LHCGR,STON1-GTF2A1Lc.1900T>C (p.Phe634Leu)
c.*212T>C (n.*212T>C)
c.3441+16217A>G (n.3441+16217A>G)
c.*644T>C (n.*644T>C)
c.1819T>C (p.Phe607Leu)
c.276+16217A>G (n.276+16217A>G)
c.*220+6327T>C (n.*220+6327T>C)
c.943T>C (p.Phe315Leu)
c.970T>C (p.Phe324Leu)
c.1825T>C (p.Phe609Leu)
c.1639T>C (p.Phe547Leu)
c.1558T>C (p.Phe520Leu)
c.1264T>C (p.Phe422Leu)
c.1645T>C (p.Phe549Leu)
 dbSNP gnomAD v4
2g.48687897A>TCA346743877GTF2A1L,LHCGR,STON1-GTF2A1Lc.1900T>A (p.Phe634Ile)
c.*212T>A (n.*212T>A)
c.3441+16217A>T (n.3441+16217A>T)
c.*644T>A (n.*644T>A)
c.1819T>A (p.Phe607Ile)
c.276+16217A>T (n.276+16217A>T)
c.*220+6327T>A (n.*220+6327T>A)
c.943T>A (p.Phe315Ile)
c.970T>A (p.Phe324Ile)
c.1825T>A (p.Phe609Ile)
c.1639T>A (p.Phe547Ile)
c.1558T>A (p.Phe520Ile)
c.1264T>A (p.Phe422Ile)
c.1645T>A (p.Phe549Ile)
2g.48687898A>CCA346743881GTF2A1L,LHCGR,STON1-GTF2A1Lc.1899T>G (p.Asp633Glu)
c.*211T>G (n.*211T>G)
c.3441+16218A>C (n.3441+16218A>C)
c.*643T>G (n.*643T>G)
c.1818T>G (p.Asp606Glu)
c.276+16218A>C (n.276+16218A>C)
c.*220+6326T>G (n.*220+6326T>G)
c.942T>G (p.Asp314Glu)
c.969T>G (p.Asp323Glu)
c.1824T>G (p.Asp608Glu)
c.1638T>G (p.Asp546Glu)
c.1557T>G (p.Asp519Glu)
c.1263T>G (p.Asp421Glu)
c.1644T>G (p.Asp548Glu)
2g.48687898A>GCA426125330GTF2A1L,LHCGR,STON1-GTF2A1Lc.1899T>C (p.Asp633=)
c.*211T>C (n.*211T>C)
c.3441+16218A>G (n.3441+16218A>G)
c.*643T>C (n.*643T>C)
c.1818T>C (p.Asp606=)
c.276+16218A>G (n.276+16218A>G)
c.*220+6326T>C (n.*220+6326T>C)
c.942T>C (p.Asp314=)
c.969T>C (p.Asp323=)
c.1824T>C (p.Asp608=)
c.1638T>C (p.Asp546=)
c.1557T>C (p.Asp519=)
c.1263T>C (p.Asp421=)
c.1644T>C (p.Asp548=)
2g.48687898A>TCA346743883GTF2A1L,LHCGR,STON1-GTF2A1Lc.1899T>A (p.Asp633Glu)
c.*211T>A (n.*211T>A)
c.3441+16218A>T (n.3441+16218A>T)
c.*643T>A (n.*643T>A)
c.1818T>A (p.Asp606Glu)
c.276+16218A>T (n.276+16218A>T)
c.*220+6326T>A (n.*220+6326T>A)
c.942T>A (p.Asp314Glu)
c.969T>A (p.Asp323Glu)
c.1824T>A (p.Asp608Glu)
c.1638T>A (p.Asp546Glu)
c.1557T>A (p.Asp519Glu)
c.1263T>A (p.Asp421Glu)
c.1644T>A (p.Asp548Glu)
2g.48687899T>ACA1652972GTF2A1L,LHCGR,STON1-GTF2A1Lc.1898A>T (p.Asp633Val)
c.*210A>T (n.*210A>T)
c.3441+16219T>A (n.3441+16219T>A)
c.*642A>T (n.*642A>T)
c.1817A>T (p.Asp606Val)
c.276+16219T>A (n.276+16219T>A)
c.*220+6325A>T (n.*220+6325A>T)
c.941A>T (p.Asp314Val)
c.968A>T (p.Asp323Val)
c.1823A>T (p.Asp608Val)
c.1637A>T (p.Asp546Val)
c.1556A>T (p.Asp519Val)
c.1262A>T (p.Asp421Val)
c.1643A>T (p.Asp548Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687899T>CCA346743887GTF2A1L,LHCGR,STON1-GTF2A1Lc.1898A>G (p.Asp633Gly)
c.*210A>G (n.*210A>G)
c.3441+16219T>C (n.3441+16219T>C)
c.*642A>G (n.*642A>G)
c.1817A>G (p.Asp606Gly)
c.276+16219T>C (n.276+16219T>C)
c.*220+6325A>G (n.*220+6325A>G)
c.941A>G (p.Asp314Gly)
c.968A>G (p.Asp323Gly)
c.1823A>G (p.Asp608Gly)
c.1637A>G (p.Asp546Gly)
c.1556A>G (p.Asp519Gly)
c.1262A>G (p.Asp421Gly)
c.1643A>G (p.Asp548Gly)
2g.48687899T>GCA346743889GTF2A1L,LHCGR,STON1-GTF2A1Lc.1898A>C (p.Asp633Ala)
c.*210A>C (n.*210A>C)
c.3441+16219T>G (n.3441+16219T>G)
c.*642A>C (n.*642A>C)
c.1817A>C (p.Asp606Ala)
c.276+16219T>G (n.276+16219T>G)
c.*220+6325A>C (n.*220+6325A>C)
c.941A>C (p.Asp314Ala)
c.968A>C (p.Asp323Ala)
c.1823A>C (p.Asp608Ala)
c.1637A>C (p.Asp546Ala)
c.1556A>C (p.Asp519Ala)
c.1262A>C (p.Asp421Ala)
c.1643A>C (p.Asp548Ala)
2g.48687899T=CA1248600897GTF2A1L,LHCGR,STON1-GTF2A1Lc.1898A= (p.Asp633=)
c.*210A= (n.*210A=)
c.3441+16219T= (n.3441+16219T=)
c.*642A= (n.*642A=)
c.1817A= (p.Asp606=)
c.276+16219T= (n.276+16219T=)
c.*220+6325A= (n.*220+6325A=)
c.941A= (p.Asp314=)
c.968A= (p.Asp323=)
c.1823A= (p.Asp608=)
c.1637A= (p.Asp546=)
c.1556A= (p.Asp519=)
c.1262A= (p.Asp421=)
c.1643A= (p.Asp548=)
2g.48687900C>ACA346743893GTF2A1L,LHCGR,STON1-GTF2A1Lc.1897G>T (p.Asp633Tyr)
c.*209G>T (n.*209G>T)
c.3441+16220C>A (n.3441+16220C>A)
c.*641G>T (n.*641G>T)
c.1816G>T (p.Asp606Tyr)
c.276+16220C>A (n.276+16220C>A)
c.*220+6324G>T (n.*220+6324G>T)
c.940G>T (p.Asp314Tyr)
c.967G>T (p.Asp323Tyr)
c.1822G>T (p.Asp608Tyr)
c.1636G>T (p.Asp546Tyr)
c.1555G>T (p.Asp519Tyr)
c.1261G>T (p.Asp421Tyr)
c.1642G>T (p.Asp548Tyr)
2g.48687900C=CA1248600898GTF2A1L,LHCGR,STON1-GTF2A1Lc.1897G= (p.Asp633=)
c.*209G= (n.*209G=)
c.3441+16220C= (n.3441+16220C=)
c.*641G= (n.*641G=)
c.1816G= (p.Asp606=)
c.276+16220C= (n.276+16220C=)
c.*220+6324G= (n.*220+6324G=)
c.940G= (p.Asp314=)
c.967G= (p.Asp323=)
c.1822G= (p.Asp608=)
c.1636G= (p.Asp546=)
c.1555G= (p.Asp519=)
c.1261G= (p.Asp421=)
c.1642G= (p.Asp548=)
2g.48687900C>GCA346743894GTF2A1L,LHCGR,STON1-GTF2A1Lc.1897G>C (p.Asp633His)
c.*209G>C (n.*209G>C)
c.3441+16220C>G (n.3441+16220C>G)
c.*641G>C (n.*641G>C)
c.1816G>C (p.Asp606His)
c.276+16220C>G (n.276+16220C>G)
c.*220+6324G>C (n.*220+6324G>C)
c.940G>C (p.Asp314His)
c.967G>C (p.Asp323His)
c.1822G>C (p.Asp608His)
c.1636G>C (p.Asp546His)
c.1555G>C (p.Asp519His)
c.1261G>C (p.Asp421His)
c.1642G>C (p.Asp548His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48687900C>TCA346743896GTF2A1L,LHCGR,STON1-GTF2A1Lc.1897G>A (p.Asp633Asn)
c.*209G>A (n.*209G>A)
c.3441+16220C>T (n.3441+16220C>T)
c.*641G>A (n.*641G>A)
c.1816G>A (p.Asp606Asn)
c.276+16220C>T (n.276+16220C>T)
c.*220+6324G>A (n.*220+6324G>A)
c.940G>A (p.Asp314Asn)
c.967G>A (p.Asp323Asn)
c.1822G>A (p.Asp608Asn)
c.1636G>A (p.Asp546Asn)
c.1555G>A (p.Asp519Asn)
c.1261G>A (p.Asp421Asn)
c.1642G>A (p.Asp548Asn)
 COSMIC
2g.48687901T>ACA346743897GTF2A1L,LHCGR,STON1-GTF2A1Lc.1896A>T (p.Arg632Ser)
c.*208A>T (n.*208A>T)
c.3441+16221T>A (n.3441+16221T>A)
c.*640A>T (n.*640A>T)
c.1815A>T (p.Arg605Ser)
c.276+16221T>A (n.276+16221T>A)
c.*220+6323A>T (n.*220+6323A>T)
c.939A>T (p.Arg313Ser)
c.966A>T (p.Arg322Ser)
c.1821A>T (p.Arg607Ser)
c.1635A>T (p.Arg545Ser)
c.1554A>T (p.Arg518Ser)
c.1260A>T (p.Arg420Ser)
c.1641A>T (p.Arg547Ser)
2g.48687901T>CCA426125341GTF2A1L,LHCGR,STON1-GTF2A1Lc.1896A>G (p.Arg632=)
c.*208A>G (n.*208A>G)
c.3441+16221T>C (n.3441+16221T>C)
c.*640A>G (n.*640A>G)
c.1815A>G (p.Arg605=)
c.276+16221T>C (n.276+16221T>C)
c.*220+6323A>G (n.*220+6323A>G)
c.939A>G (p.Arg313=)
c.966A>G (p.Arg322=)
c.1821A>G (p.Arg607=)
c.1635A>G (p.Arg545=)
c.1554A>G (p.Arg518=)
c.1260A>G (p.Arg420=)
c.1641A>G (p.Arg547=)
2g.48687901T>GCA346743901GTF2A1L,LHCGR,STON1-GTF2A1Lc.1896A>C (p.Arg632Ser)
c.*208A>C (n.*208A>C)
c.3441+16221T>G (n.3441+16221T>G)
c.*640A>C (n.*640A>C)
c.1815A>C (p.Arg605Ser)
c.276+16221T>G (n.276+16221T>G)
c.*220+6323A>C (n.*220+6323A>C)
c.939A>C (p.Arg313Ser)
c.966A>C (p.Arg322Ser)
c.1821A>C (p.Arg607Ser)
c.1635A>C (p.Arg545Ser)
c.1554A>C (p.Arg518Ser)
c.1260A>C (p.Arg420Ser)
c.1641A>C (p.Arg547Ser)
2g.48687902C>ACA346743907GTF2A1L,LHCGR,STON1-GTF2A1Lc.1895G>T (p.Arg632Ile)
c.*207G>T (n.*207G>T)
c.3441+16222C>A (n.3441+16222C>A)
c.*639G>T (n.*639G>T)
c.1814G>T (p.Arg605Ile)
c.276+16222C>A (n.276+16222C>A)
c.*220+6322G>T (n.*220+6322G>T)
c.938G>T (p.Arg313Ile)
c.965G>T (p.Arg322Ile)
c.1820G>T (p.Arg607Ile)
c.1634G>T (p.Arg545Ile)
c.1553G>T (p.Arg518Ile)
c.1259G>T (p.Arg420Ile)
c.1640G>T (p.Arg547Ile)
2g.48687902C>GCA346743909GTF2A1L,LHCGR,STON1-GTF2A1Lc.1895G>C (p.Arg632Thr)
c.*207G>C (n.*207G>C)
c.3441+16222C>G (n.3441+16222C>G)
c.*639G>C (n.*639G>C)
c.1814G>C (p.Arg605Thr)
c.276+16222C>G (n.276+16222C>G)
c.*220+6322G>C (n.*220+6322G>C)
c.938G>C (p.Arg313Thr)
c.965G>C (p.Arg322Thr)
c.1820G>C (p.Arg607Thr)
c.1634G>C (p.Arg545Thr)
c.1553G>C (p.Arg518Thr)
c.1259G>C (p.Arg420Thr)
c.1640G>C (p.Arg547Thr)
 gnomAD v4 COSMIC
2g.48687902C>TCA346743904GTF2A1L,LHCGR,STON1-GTF2A1Lc.1895G>A (p.Arg632Lys)
c.*207G>A (n.*207G>A)
c.3441+16222C>T (n.3441+16222C>T)
c.*639G>A (n.*639G>A)
c.1814G>A (p.Arg605Lys)
c.276+16222C>T (n.276+16222C>T)
c.*220+6322G>A (n.*220+6322G>A)
c.938G>A (p.Arg313Lys)
c.965G>A (p.Arg322Lys)
c.1820G>A (p.Arg607Lys)
c.1634G>A (p.Arg545Lys)
c.1553G>A (p.Arg518Lys)
c.1259G>A (p.Arg420Lys)
c.1640G>A (p.Arg547Lys)
 gnomAD v4 COSMIC
2g.48687903T>ACA346743911GTF2A1L,LHCGR,STON1-GTF2A1Lc.1894A>T (p.Arg632Ter)
c.*206A>T (n.*206A>T)
c.3441+16223T>A (n.3441+16223T>A)
c.*638A>T (n.*638A>T)
c.1813A>T (p.Arg605Ter)
c.276+16223T>A (n.276+16223T>A)
c.*220+6321A>T (n.*220+6321A>T)
c.937A>T (p.Arg313Ter)
c.964A>T (p.Arg322Ter)
c.1819A>T (p.Arg607Ter)
c.1633A>T (p.Arg545Ter)
c.1552A>T (p.Arg518Ter)
c.1258A>T (p.Arg420Ter)
c.1639A>T (p.Arg547Ter)
2g.48687903T>CCA346743913GTF2A1L,LHCGR,STON1-GTF2A1Lc.1894A>G (p.Arg632Gly)
c.*206A>G (n.*206A>G)
c.3441+16223T>C (n.3441+16223T>C)
c.*638A>G (n.*638A>G)
c.1813A>G (p.Arg605Gly)
c.276+16223T>C (n.276+16223T>C)
c.*220+6321A>G (n.*220+6321A>G)
c.937A>G (p.Arg313Gly)
c.964A>G (p.Arg322Gly)
c.1819A>G (p.Arg607Gly)
c.1633A>G (p.Arg545Gly)
c.1552A>G (p.Arg518Gly)
c.1258A>G (p.Arg420Gly)
c.1639A>G (p.Arg547Gly)
2g.48687903T>GCA426125356GTF2A1L,LHCGR,STON1-GTF2A1Lc.1894A>C (p.Arg632=)
c.*206A>C (n.*206A>C)
c.3441+16223T>G (n.3441+16223T>G)
c.*638A>C (n.*638A>C)
c.1813A>C (p.Arg605=)
c.276+16223T>G (n.276+16223T>G)
c.*220+6321A>C (n.*220+6321A>C)
c.937A>C (p.Arg313=)
c.964A>C (p.Arg322=)
c.1819A>C (p.Arg607=)
c.1633A>C (p.Arg545=)
c.1552A>C (p.Arg518=)
c.1258A>C (p.Arg420=)
c.1639A>C (p.Arg547=)
2g.48687904T>ACA346743916GTF2A1L,LHCGR,STON1-GTF2A1Lc.1893A>T (p.Gln631His)
c.*205A>T (n.*205A>T)
c.3441+16224T>A (n.3441+16224T>A)
c.*637A>T (n.*637A>T)
c.1812A>T (p.Gln604His)
c.276+16224T>A (n.276+16224T>A)
c.*220+6320A>T (n.*220+6320A>T)
c.936A>T (p.Gln312His)
c.963A>T (p.Gln321His)
c.1818A>T (p.Gln606His)
c.1632A>T (p.Gln544His)
c.1551A>T (p.Gln517His)
c.1257A>T (p.Gln419His)
c.1638A>T (p.Gln546His)
2g.48687904T>CCA426125358GTF2A1L,LHCGR,STON1-GTF2A1Lc.1893A>G (p.Gln631=)
c.*205A>G (n.*205A>G)
c.3441+16224T>C (n.3441+16224T>C)
c.*637A>G (n.*637A>G)
c.1812A>G (p.Gln604=)
c.276+16224T>C (n.276+16224T>C)
c.*220+6320A>G (n.*220+6320A>G)
c.936A>G (p.Gln312=)
c.963A>G (p.Gln321=)
c.1818A>G (p.Gln606=)
c.1632A>G (p.Gln544=)
c.1551A>G (p.Gln517=)
c.1257A>G (p.Gln419=)
c.1638A>G (p.Gln546=)
2g.48687904T>GCA346743918GTF2A1L,LHCGR,STON1-GTF2A1Lc.1893A>C (p.Gln631His)
c.*205A>C (n.*205A>C)
c.3441+16224T>G (n.3441+16224T>G)
c.*637A>C (n.*637A>C)
c.1812A>C (p.Gln604His)
c.276+16224T>G (n.276+16224T>G)
c.*220+6320A>C (n.*220+6320A>C)
c.936A>C (p.Gln312His)
c.963A>C (p.Gln321His)
c.1818A>C (p.Gln606His)
c.1632A>C (p.Gln544His)
c.1551A>C (p.Gln517His)
c.1257A>C (p.Gln419His)
c.1638A>C (p.Gln546His)
2g.48687905T>ACA346743920GTF2A1L,LHCGR,STON1-GTF2A1Lc.1892A>T (p.Gln631Leu)
c.*204A>T (n.*204A>T)
c.3441+16225T>A (n.3441+16225T>A)
c.*636A>T (n.*636A>T)
c.1811A>T (p.Gln604Leu)
c.276+16225T>A (n.276+16225T>A)
c.*220+6319A>T (n.*220+6319A>T)
c.935A>T (p.Gln312Leu)
c.962A>T (p.Gln321Leu)
c.1817A>T (p.Gln606Leu)
c.1631A>T (p.Gln544Leu)
c.1550A>T (p.Gln517Leu)
c.1256A>T (p.Gln419Leu)
c.1637A>T (p.Gln546Leu)
2g.48687905T>CCA346743923GTF2A1L,LHCGR,STON1-GTF2A1Lc.1892A>G (p.Gln631Arg)
c.*204A>G (n.*204A>G)
c.3441+16225T>C (n.3441+16225T>C)
c.*636A>G (n.*636A>G)
c.1811A>G (p.Gln604Arg)
c.276+16225T>C (n.276+16225T>C)
c.*220+6319A>G (n.*220+6319A>G)
c.935A>G (p.Gln312Arg)
c.962A>G (p.Gln321Arg)
c.1817A>G (p.Gln606Arg)
c.1631A>G (p.Gln544Arg)
c.1550A>G (p.Gln517Arg)
c.1256A>G (p.Gln419Arg)
c.1637A>G (p.Gln546Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.48687905T>GCA346743925GTF2A1L,LHCGR,STON1-GTF2A1Lc.1892A>C (p.Gln631Pro)
c.*204A>C (n.*204A>C)
c.3441+16225T>G (n.3441+16225T>G)
c.*636A>C (n.*636A>C)
c.1811A>C (p.Gln604Pro)
c.276+16225T>G (n.276+16225T>G)
c.*220+6319A>C (n.*220+6319A>C)
c.935A>C (p.Gln312Pro)
c.962A>C (p.Gln321Pro)
c.1817A>C (p.Gln606Pro)
c.1631A>C (p.Gln544Pro)
c.1550A>C (p.Gln517Pro)
c.1256A>C (p.Gln419Pro)
c.1637A>C (p.Gln546Pro)
2g.48687905T=CA1248600899GTF2A1L,LHCGR,STON1-GTF2A1Lc.1892A= (p.Gln631=)
c.*204A= (n.*204A=)
c.3441+16225T= (n.3441+16225T=)
c.*636A= (n.*636A=)
c.1811A= (p.Gln604=)
c.276+16225T= (n.276+16225T=)
c.*220+6319A= (n.*220+6319A=)
c.935A= (p.Gln312=)
c.962A= (p.Gln321=)
c.1817A= (p.Gln606=)
c.1631A= (p.Gln544=)
c.1550A= (p.Gln517=)
c.1256A= (p.Gln419=)
c.1637A= (p.Gln546=)
2g.48687906G>ACA346743936GTF2A1L,LHCGR,STON1-GTF2A1Lc.1891C>T (p.Gln631Ter)
c.*203C>T (n.*203C>T)
c.3441+16226G>A (n.3441+16226G>A)
c.*635C>T (n.*635C>T)
c.1810C>T (p.Gln604Ter)
c.276+16226G>A (n.276+16226G>A)
c.*220+6318C>T (n.*220+6318C>T)
c.934C>T (p.Gln312Ter)
c.961C>T (p.Gln321Ter)
c.1816C>T (p.Gln606Ter)
c.1630C>T (p.Gln544Ter)
c.1549C>T (p.Gln517Ter)
c.1255C>T (p.Gln419Ter)
c.1636C>T (p.Gln546Ter)
2g.48687906G>CCA346743938GTF2A1L,LHCGR,STON1-GTF2A1Lc.1891C>G (p.Gln631Glu)
c.*203C>G (n.*203C>G)
c.3441+16226G>C (n.3441+16226G>C)
c.*635C>G (n.*635C>G)
c.1810C>G (p.Gln604Glu)
c.276+16226G>C (n.276+16226G>C)
c.*220+6318C>G (n.*220+6318C>G)
c.934C>G (p.Gln312Glu)
c.961C>G (p.Gln321Glu)
c.1816C>G (p.Gln606Glu)
c.1630C>G (p.Gln544Glu)
c.1549C>G (p.Gln517Glu)
c.1255C>G (p.Gln419Glu)
c.1636C>G (p.Gln546Glu)
2g.48687906G>TCA346743946GTF2A1L,LHCGR,STON1-GTF2A1Lc.1891C>A (p.Gln631Lys)
c.*203C>A (n.*203C>A)
c.3441+16226G>T (n.3441+16226G>T)
c.*635C>A (n.*635C>A)
c.1810C>A (p.Gln604Lys)
c.276+16226G>T (n.276+16226G>T)
c.*220+6318C>A (n.*220+6318C>A)
c.934C>A (p.Gln312Lys)
c.961C>A (p.Gln321Lys)
c.1816C>A (p.Gln606Lys)
c.1630C>A (p.Gln544Lys)
c.1549C>A (p.Gln517Lys)
c.1255C>A (p.Gln419Lys)
c.1636C>A (p.Gln546Lys)
2g.48687907G>ACA426125366GTF2A1L,LHCGR,STON1-GTF2A1Lc.1890C>T (p.Phe630=)
c.*202C>T (n.*202C>T)
c.3441+16227G>A (n.3441+16227G>A)
c.*634C>T (n.*634C>T)
c.1809C>T (p.Phe603=)
c.276+16227G>A (n.276+16227G>A)
c.*220+6317C>T (n.*220+6317C>T)
c.933C>T (p.Phe311=)
c.960C>T (p.Phe320=)
c.1815C>T (p.Phe605=)
c.1629C>T (p.Phe543=)
c.1548C>T (p.Phe516=)
c.1254C>T (p.Phe418=)
c.1635C>T (p.Phe545=)
 COSMIC
2g.48687907G>CCA346743949GTF2A1L,LHCGR,STON1-GTF2A1Lc.1890C>G (p.Phe630Leu)
c.*202C>G (n.*202C>G)
c.3441+16227G>C (n.3441+16227G>C)
c.*634C>G (n.*634C>G)
c.1809C>G (p.Phe603Leu)
c.276+16227G>C (n.276+16227G>C)
c.*220+6317C>G (n.*220+6317C>G)
c.933C>G (p.Phe311Leu)
c.960C>G (p.Phe320Leu)
c.1815C>G (p.Phe605Leu)
c.1629C>G (p.Phe543Leu)
c.1548C>G (p.Phe516Leu)
c.1254C>G (p.Phe418Leu)
c.1635C>G (p.Phe545Leu)
2g.48687907G>TCA346743957GTF2A1L,LHCGR,STON1-GTF2A1Lc.1890C>A (p.Phe630Leu)
c.*202C>A (n.*202C>A)
c.3441+16227G>T (n.3441+16227G>T)
c.*634C>A (n.*634C>A)
c.1809C>A (p.Phe603Leu)
c.276+16227G>T (n.276+16227G>T)
c.*220+6317C>A (n.*220+6317C>A)
c.933C>A (p.Phe311Leu)
c.960C>A (p.Phe320Leu)
c.1815C>A (p.Phe605Leu)
c.1629C>A (p.Phe543Leu)
c.1548C>A (p.Phe516Leu)
c.1254C>A (p.Phe418Leu)
c.1635C>A (p.Phe545Leu)
2g.48687908A>CCA346743962GTF2A1L,LHCGR,STON1-GTF2A1Lc.1889T>G (p.Phe630Cys)
c.*201T>G (n.*201T>G)
c.3441+16228A>C (n.3441+16228A>C)
c.*633T>G (n.*633T>G)
c.1808T>G (p.Phe603Cys)
c.276+16228A>C (n.276+16228A>C)
c.*220+6316T>G (n.*220+6316T>G)
c.932T>G (p.Phe311Cys)
c.959T>G (p.Phe320Cys)
c.1814T>G (p.Phe605Cys)
c.1628T>G (p.Phe543Cys)
c.1547T>G (p.Phe516Cys)
c.1253T>G (p.Phe418Cys)
c.1634T>G (p.Phe545Cys)
2g.48687908A>GCA346743964GTF2A1L,LHCGR,STON1-GTF2A1Lc.1889T>C (p.Phe630Ser)
c.*201T>C (n.*201T>C)
c.3441+16228A>G (n.3441+16228A>G)
c.*633T>C (n.*633T>C)
c.1808T>C (p.Phe603Ser)
c.276+16228A>G (n.276+16228A>G)
c.*220+6316T>C (n.*220+6316T>C)
c.932T>C (p.Phe311Ser)
c.959T>C (p.Phe320Ser)
c.1814T>C (p.Phe605Ser)
c.1628T>C (p.Phe543Ser)
c.1547T>C (p.Phe516Ser)
c.1253T>C (p.Phe418Ser)
c.1634T>C (p.Phe545Ser)
2g.48687908A>TCA346743959GTF2A1L,LHCGR,STON1-GTF2A1Lc.1889T>A (p.Phe630Tyr)
c.*201T>A (n.*201T>A)
c.3441+16228A>T (n.3441+16228A>T)
c.*633T>A (n.*633T>A)
c.1808T>A (p.Phe603Tyr)
c.276+16228A>T (n.276+16228A>T)
c.*220+6316T>A (n.*220+6316T>A)
c.932T>A (p.Phe311Tyr)
c.959T>A (p.Phe320Tyr)
c.1814T>A (p.Phe605Tyr)
c.1628T>A (p.Phe543Tyr)
c.1547T>A (p.Phe516Tyr)
c.1253T>A (p.Phe418Tyr)
c.1634T>A (p.Phe545Tyr)
2g.48687909A>CCA346743966GTF2A1L,LHCGR,STON1-GTF2A1Lc.1888T>G (p.Phe630Val)
c.*200T>G (n.*200T>G)
c.3441+16229A>C (n.3441+16229A>C)
c.*632T>G (n.*632T>G)
c.1807T>G (p.Phe603Val)
c.276+16229A>C (n.276+16229A>C)
c.*220+6315T>G (n.*220+6315T>G)
c.931T>G (p.Phe311Val)
c.958T>G (p.Phe320Val)
c.1813T>G (p.Phe605Val)
c.1627T>G (p.Phe543Val)
c.1546T>G (p.Phe516Val)
c.1252T>G (p.Phe418Val)
c.1633T>G (p.Phe545Val)
2g.48687909A>GCA346743967GTF2A1L,LHCGR,STON1-GTF2A1Lc.1888T>C (p.Phe630Leu)
c.*200T>C (n.*200T>C)
c.3441+16229A>G (n.3441+16229A>G)
c.*632T>C (n.*632T>C)
c.1807T>C (p.Phe603Leu)
c.276+16229A>G (n.276+16229A>G)
c.*220+6315T>C (n.*220+6315T>C)
c.931T>C (p.Phe311Leu)
c.958T>C (p.Phe320Leu)
c.1813T>C (p.Phe605Leu)
c.1627T>C (p.Phe543Leu)
c.1546T>C (p.Phe516Leu)
c.1252T>C (p.Phe418Leu)
c.1633T>C (p.Phe545Leu)
2g.48687909A>TCA346743970GTF2A1L,LHCGR,STON1-GTF2A1Lc.1888T>A (p.Phe630Ile)
c.*200T>A (n.*200T>A)
c.3441+16229A>T (n.3441+16229A>T)
c.*632T>A (n.*632T>A)
c.1807T>A (p.Phe603Ile)
c.276+16229A>T (n.276+16229A>T)
c.*220+6315T>A (n.*220+6315T>A)
c.931T>A (p.Phe311Ile)
c.958T>A (p.Phe320Ile)
c.1813T>A (p.Phe605Ile)
c.1627T>A (p.Phe543Ile)
c.1546T>A (p.Phe516Ile)
c.1252T>A (p.Phe418Ile)
c.1633T>A (p.Phe545Ile)
2g.48687910T>ACA426125373GTF2A1L,LHCGR,STON1-GTF2A1Lc.1887A>T (p.Thr629=)
c.*199A>T (n.*199A>T)
c.3441+16230T>A (n.3441+16230T>A)
c.*631A>T (n.*631A>T)
c.1806A>T (p.Thr602=)
c.276+16230T>A (n.276+16230T>A)
c.*220+6314A>T (n.*220+6314A>T)
c.930A>T (p.Thr310=)
c.957A>T (p.Thr319=)
c.1812A>T (p.Thr604=)
c.1626A>T (p.Thr542=)
c.1545A>T (p.Thr515=)
c.1251A>T (p.Thr417=)
c.1632A>T (p.Thr544=)
2g.48687910T>CCA426125374GTF2A1L,LHCGR,STON1-GTF2A1Lc.1887A>G (p.Thr629=)
c.*199A>G (n.*199A>G)
c.3441+16230T>C (n.3441+16230T>C)
c.*631A>G (n.*631A>G)
c.1806A>G (p.Thr602=)
c.276+16230T>C (n.276+16230T>C)
c.*220+6314A>G (n.*220+6314A>G)
c.930A>G (p.Thr310=)
c.957A>G (p.Thr319=)
c.1812A>G (p.Thr604=)
c.1626A>G (p.Thr542=)
c.1545A>G (p.Thr515=)
c.1251A>G (p.Thr417=)
c.1632A>G (p.Thr544=)
2g.48687910T>GCA426125375GTF2A1L,LHCGR,STON1-GTF2A1Lc.1887A>C (p.Thr629=)
c.*199A>C (n.*199A>C)
c.3441+16230T>G (n.3441+16230T>G)
c.*631A>C (n.*631A>C)
c.1806A>C (p.Thr602=)
c.276+16230T>G (n.276+16230T>G)
c.*220+6314A>C (n.*220+6314A>C)
c.930A>C (p.Thr310=)
c.957A>C (p.Thr319=)
c.1812A>C (p.Thr604=)
c.1626A>C (p.Thr542=)
c.1545A>C (p.Thr515=)
c.1251A>C (p.Thr417=)
c.1632A>C (p.Thr544=)
2g.48687911G>ACA346743972GTF2A1L,LHCGR,STON1-GTF2A1Lc.1886C>T (p.Thr629Ile)
c.*198C>T (n.*198C>T)
c.3441+16231G>A (n.3441+16231G>A)
c.*630C>T (n.*630C>T)
c.1805C>T (p.Thr602Ile)
c.276+16231G>A (n.276+16231G>A)
c.*220+6313C>T (n.*220+6313C>T)
c.929C>T (p.Thr310Ile)
c.956C>T (p.Thr319Ile)
c.1811C>T (p.Thr604Ile)
c.1625C>T (p.Thr542Ile)
c.1544C>T (p.Thr515Ile)
c.1250C>T (p.Thr417Ile)
c.1631C>T (p.Thr544Ile)
 gnomAD v4
2g.48687911G>CCA346743973GTF2A1L,LHCGR,STON1-GTF2A1Lc.1886C>G (p.Thr629Arg)
c.*198C>G (n.*198C>G)
c.3441+16231G>C (n.3441+16231G>C)
c.*630C>G (n.*630C>G)
c.1805C>G (p.Thr602Arg)
c.276+16231G>C (n.276+16231G>C)
c.*220+6313C>G (n.*220+6313C>G)
c.929C>G (p.Thr310Arg)
c.956C>G (p.Thr319Arg)
c.1811C>G (p.Thr604Arg)
c.1625C>G (p.Thr542Arg)
c.1544C>G (p.Thr515Arg)
c.1250C>G (p.Thr417Arg)
c.1631C>G (p.Thr544Arg)
2g.48687911G>TCA346743976GTF2A1L,LHCGR,STON1-GTF2A1Lc.1886C>A (p.Thr629Lys)
c.*198C>A (n.*198C>A)
c.3441+16231G>T (n.3441+16231G>T)
c.*630C>A (n.*630C>A)
c.1805C>A (p.Thr602Lys)
c.276+16231G>T (n.276+16231G>T)
c.*220+6313C>A (n.*220+6313C>A)
c.929C>A (p.Thr310Lys)
c.956C>A (p.Thr319Lys)
c.1811C>A (p.Thr604Lys)
c.1625C>A (p.Thr542Lys)
c.1544C>A (p.Thr515Lys)
c.1250C>A (p.Thr417Lys)
c.1631C>A (p.Thr544Lys)
2g.48687912T>ACA346743977GTF2A1L,LHCGR,STON1-GTF2A1Lc.1885A>T (p.Thr629Ser)
c.*197A>T (n.*197A>T)
c.3441+16232T>A (n.3441+16232T>A)
c.*629A>T (n.*629A>T)
c.1804A>T (p.Thr602Ser)
c.276+16232T>A (n.276+16232T>A)
c.*220+6312A>T (n.*220+6312A>T)
c.928A>T (p.Thr310Ser)
c.955A>T (p.Thr319Ser)
c.1810A>T (p.Thr604Ser)
c.1624A>T (p.Thr542Ser)
c.1543A>T (p.Thr515Ser)
c.1249A>T (p.Thr417Ser)
c.1630A>T (p.Thr544Ser)
2g.48687912T>CCA346743979GTF2A1L,LHCGR,STON1-GTF2A1Lc.1885A>G (p.Thr629Ala)
c.*197A>G (n.*197A>G)
c.3441+16232T>C (n.3441+16232T>C)
c.*629A>G (n.*629A>G)
c.1804A>G (p.Thr602Ala)
c.276+16232T>C (n.276+16232T>C)
c.*220+6312A>G (n.*220+6312A>G)
c.928A>G (p.Thr310Ala)
c.955A>G (p.Thr319Ala)
c.1810A>G (p.Thr604Ala)
c.1624A>G (p.Thr542Ala)
c.1543A>G (p.Thr515Ala)
c.1249A>G (p.Thr417Ala)
c.1630A>G (p.Thr544Ala)
 gnomAD v4
2g.48687912T>GCA346743978GTF2A1L,LHCGR,STON1-GTF2A1Lc.1885A>C (p.Thr629Pro)
c.*197A>C (n.*197A>C)
c.3441+16232T>G (n.3441+16232T>G)
c.*629A>C (n.*629A>C)
c.1804A>C (p.Thr602Pro)
c.276+16232T>G (n.276+16232T>G)
c.*220+6312A>C (n.*220+6312A>C)
c.928A>C (p.Thr310Pro)
c.955A>C (p.Thr319Pro)
c.1810A>C (p.Thr604Pro)
c.1624A>C (p.Thr542Pro)
c.1543A>C (p.Thr515Pro)
c.1249A>C (p.Thr417Pro)
c.1630A>C (p.Thr544Pro)
2g.48687913C>ACA346743980GTF2A1L,LHCGR,STON1-GTF2A1Lc.1884G>T (p.Lys628Asn)
c.*196G>T (n.*196G>T)
c.3441+16233C>A (n.3441+16233C>A)
c.*628G>T (n.*628G>T)
c.1803G>T (p.Lys601Asn)
c.276+16233C>A (n.276+16233C>A)
c.*220+6311G>T (n.*220+6311G>T)
c.927G>T (p.Lys309Asn)
c.954G>T (p.Lys318Asn)
c.1809G>T (p.Lys603Asn)
c.1623G>T (p.Lys541Asn)
c.1542G>T (p.Lys514Asn)
c.1248G>T (p.Lys416Asn)
c.1629G>T (p.Lys543Asn)
2g.48687913C>GCA346743981GTF2A1L,LHCGR,STON1-GTF2A1Lc.1884G>C (p.Lys628Asn)
c.*196G>C (n.*196G>C)
c.3441+16233C>G (n.3441+16233C>G)
c.*628G>C (n.*628G>C)
c.1803G>C (p.Lys601Asn)
c.276+16233C>G (n.276+16233C>G)
c.*220+6311G>C (n.*220+6311G>C)
c.927G>C (p.Lys309Asn)
c.954G>C (p.Lys318Asn)
c.1809G>C (p.Lys603Asn)
c.1623G>C (p.Lys541Asn)
c.1542G>C (p.Lys514Asn)
c.1248G>C (p.Lys416Asn)
c.1629G>C (p.Lys543Asn)
 gnomAD v4
2g.48687913C>TCA426125382GTF2A1L,LHCGR,STON1-GTF2A1Lc.1884G>A (p.Lys628=)
c.*196G>A (n.*196G>A)
c.3441+16233C>T (n.3441+16233C>T)
c.*628G>A (n.*628G>A)
c.1803G>A (p.Lys601=)
c.276+16233C>T (n.276+16233C>T)
c.*220+6311G>A (n.*220+6311G>A)
c.927G>A (p.Lys309=)
c.954G>A (p.Lys318=)
c.1809G>A (p.Lys603=)
c.1623G>A (p.Lys541=)
c.1542G>A (p.Lys514=)
c.1248G>A (p.Lys416=)
c.1629G>A (p.Lys543=)
2g.48687914T>ACA346743983GTF2A1L,LHCGR,STON1-GTF2A1Lc.1883A>T (p.Lys628Met)
c.*195A>T (n.*195A>T)
c.3441+16234T>A (n.3441+16234T>A)
c.*627A>T (n.*627A>T)
c.1802A>T (p.Lys601Met)
c.276+16234T>A (n.276+16234T>A)
c.*220+6310A>T (n.*220+6310A>T)
c.926A>T (p.Lys309Met)
c.953A>T (p.Lys318Met)
c.1808A>T (p.Lys603Met)
c.1622A>T (p.Lys541Met)
c.1541A>T (p.Lys514Met)
c.1247A>T (p.Lys416Met)
c.1628A>T (p.Lys543Met)
2g.48687914T>CCA346743985GTF2A1L,LHCGR,STON1-GTF2A1Lc.1883A>G (p.Lys628Arg)
c.*195A>G (n.*195A>G)
c.3441+16234T>C (n.3441+16234T>C)
c.*627A>G (n.*627A>G)
c.1802A>G (p.Lys601Arg)
c.276+16234T>C (n.276+16234T>C)
c.*220+6310A>G (n.*220+6310A>G)
c.926A>G (p.Lys309Arg)
c.953A>G (p.Lys318Arg)
c.1808A>G (p.Lys603Arg)
c.1622A>G (p.Lys541Arg)
c.1541A>G (p.Lys514Arg)
c.1247A>G (p.Lys416Arg)
c.1628A>G (p.Lys543Arg)
2g.48687914T>GCA346743987GTF2A1L,LHCGR,STON1-GTF2A1Lc.1883A>C (p.Lys628Thr)
c.*195A>C (n.*195A>C)
c.3441+16234T>G (n.3441+16234T>G)
c.*627A>C (n.*627A>C)
c.1802A>C (p.Lys601Thr)
c.276+16234T>G (n.276+16234T>G)
c.*220+6310A>C (n.*220+6310A>C)
c.926A>C (p.Lys309Thr)
c.953A>C (p.Lys318Thr)
c.1808A>C (p.Lys603Thr)
c.1622A>C (p.Lys541Thr)
c.1541A>C (p.Lys514Thr)
c.1247A>C (p.Lys416Thr)
c.1628A>C (p.Lys543Thr)
2g.48687915T>ACA346743996GTF2A1L,LHCGR,STON1-GTF2A1Lc.1882A>T (p.Lys628Ter)
c.*194A>T (n.*194A>T)
c.3441+16235T>A (n.3441+16235T>A)
c.*626A>T (n.*626A>T)
c.1801A>T (p.Lys601Ter)
c.276+16235T>A (n.276+16235T>A)
c.*220+6309A>T (n.*220+6309A>T)
c.925A>T (p.Lys309Ter)
c.952A>T (p.Lys318Ter)
c.1807A>T (p.Lys603Ter)
c.1621A>T (p.Lys541Ter)
c.1540A>T (p.Lys514Ter)
c.1246A>T (p.Lys416Ter)
c.1627A>T (p.Lys543Ter)
2g.48687915T>CCA346743999GTF2A1L,LHCGR,STON1-GTF2A1Lc.1882A>G (p.Lys628Glu)
c.*194A>G (n.*194A>G)
c.3441+16235T>C (n.3441+16235T>C)
c.*626A>G (n.*626A>G)
c.1801A>G (p.Lys601Glu)
c.276+16235T>C (n.276+16235T>C)
c.*220+6309A>G (n.*220+6309A>G)
c.925A>G (p.Lys309Glu)
c.952A>G (p.Lys318Glu)
c.1807A>G (p.Lys603Glu)
c.1621A>G (p.Lys541Glu)
c.1540A>G (p.Lys514Glu)
c.1246A>G (p.Lys416Glu)
c.1627A>G (p.Lys543Glu)
2g.48687915T>GCA346743995GTF2A1L,LHCGR,STON1-GTF2A1Lc.1882A>C (p.Lys628Gln)
c.*194A>C (n.*194A>C)
c.3441+16235T>G (n.3441+16235T>G)
c.*626A>C (n.*626A>C)
c.1801A>C (p.Lys601Gln)
c.276+16235T>G (n.276+16235T>G)
c.*220+6309A>C (n.*220+6309A>C)
c.925A>C (p.Lys309Gln)
c.952A>C (p.Lys318Gln)
c.1807A>C (p.Lys603Gln)
c.1621A>C (p.Lys541Gln)
c.1540A>C (p.Lys514Gln)
c.1246A>C (p.Lys416Gln)
c.1627A>C (p.Lys543Gln)
2g.48687916A>CCA426125394GTF2A1L,LHCGR,STON1-GTF2A1Lc.1881T>G (p.Thr627=)
c.*193T>G (n.*193T>G)
c.3441+16236A>C (n.3441+16236A>C)
c.*625T>G (n.*625T>G)
c.1800T>G (p.Thr600=)
c.276+16236A>C (n.276+16236A>C)
c.*220+6308T>G (n.*220+6308T>G)
c.924T>G (p.Thr308=)
c.951T>G (p.Thr317=)
c.1806T>G (p.Thr602=)
c.1620T>G (p.Thr540=)
c.1539T>G (p.Thr513=)
c.1245T>G (p.Thr415=)
c.1626T>G (p.Thr542=)
2g.48687916A>GCA426125395GTF2A1L,LHCGR,STON1-GTF2A1Lc.1881T>C (p.Thr627=)
c.*193T>C (n.*193T>C)
c.3441+16236A>G (n.3441+16236A>G)
c.*625T>C (n.*625T>C)
c.1800T>C (p.Thr600=)
c.276+16236A>G (n.276+16236A>G)
c.*220+6308T>C (n.*220+6308T>C)
c.924T>C (p.Thr308=)
c.951T>C (p.Thr317=)
c.1806T>C (p.Thr602=)
c.1620T>C (p.Thr540=)
c.1539T>C (p.Thr513=)
c.1245T>C (p.Thr415=)
c.1626T>C (p.Thr542=)
2g.48687916A>TCA426125396GTF2A1L,LHCGR,STON1-GTF2A1Lc.1881T>A (p.Thr627=)
c.*193T>A (n.*193T>A)
c.3441+16236A>T (n.3441+16236A>T)
c.*625T>A (n.*625T>A)
c.1800T>A (p.Thr600=)
c.276+16236A>T (n.276+16236A>T)
c.*220+6308T>A (n.*220+6308T>A)
c.924T>A (p.Thr308=)
c.951T>A (p.Thr317=)
c.1806T>A (p.Thr602=)
c.1620T>A (p.Thr540=)
c.1539T>A (p.Thr513=)
c.1245T>A (p.Thr415=)
c.1626T>A (p.Thr542=)
2g.48687917G>ACA346744001GTF2A1L,LHCGR,STON1-GTF2A1Lc.1880C>T (p.Thr627Ile)
c.*192C>T (n.*192C>T)
c.3441+16237G>A (n.3441+16237G>A)
c.*624C>T (n.*624C>T)
c.1799C>T (p.Thr600Ile)
c.276+16237G>A (n.276+16237G>A)
c.*220+6307C>T (n.*220+6307C>T)
c.923C>T (p.Thr308Ile)
c.950C>T (p.Thr317Ile)
c.1805C>T (p.Thr602Ile)
c.1619C>T (p.Thr540Ile)
c.1538C>T (p.Thr513Ile)
c.1244C>T (p.Thr415Ile)
c.1625C>T (p.Thr542Ile)
2g.48687917G>CCA346744003GTF2A1L,LHCGR,STON1-GTF2A1Lc.1880C>G (p.Thr627Ser)
c.*192C>G (n.*192C>G)
c.3441+16237G>C (n.3441+16237G>C)
c.*624C>G (n.*624C>G)
c.1799C>G (p.Thr600Ser)
c.276+16237G>C (n.276+16237G>C)
c.*220+6307C>G (n.*220+6307C>G)
c.923C>G (p.Thr308Ser)
c.950C>G (p.Thr317Ser)
c.1805C>G (p.Thr602Ser)
c.1619C>G (p.Thr540Ser)
c.1538C>G (p.Thr513Ser)
c.1244C>G (p.Thr415Ser)
c.1625C>G (p.Thr542Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.48687917G=CA1248600900GTF2A1L,LHCGR,STON1-GTF2A1Lc.1880C= (p.Thr627=)
c.*192C= (n.*192C=)
c.3441+16237G= (n.3441+16237G=)
c.*624C= (n.*624C=)
c.1799C= (p.Thr600=)
c.276+16237G= (n.276+16237G=)
c.*220+6307C= (n.*220+6307C=)
c.923C= (p.Thr308=)
c.950C= (p.Thr317=)
c.1805C= (p.Thr602=)
c.1619C= (p.Thr540=)
c.1538C= (p.Thr513=)
c.1244C= (p.Thr415=)
c.1625C= (p.Thr542=)
2g.48687917G>TCA346744005GTF2A1L,LHCGR,STON1-GTF2A1Lc.1880C>A (p.Thr627Asn)
c.*192C>A (n.*192C>A)
c.3441+16237G>T (n.3441+16237G>T)
c.*624C>A (n.*624C>A)
c.1799C>A (p.Thr600Asn)
c.276+16237G>T (n.276+16237G>T)
c.*220+6307C>A (n.*220+6307C>A)
c.923C>A (p.Thr308Asn)
c.950C>A (p.Thr317Asn)
c.1805C>A (p.Thr602Asn)
c.1619C>A (p.Thr540Asn)
c.1538C>A (p.Thr513Asn)
c.1244C>A (p.Thr415Asn)
c.1625C>A (p.Thr542Asn)
2g.48687918T>ACA346744007GTF2A1L,LHCGR,STON1-GTF2A1Lc.1879A>T (p.Thr627Ser)
c.*191A>T (n.*191A>T)
c.3441+16238T>A (n.3441+16238T>A)
c.*623A>T (n.*623A>T)
c.1798A>T (p.Thr600Ser)
c.276+16238T>A (n.276+16238T>A)
c.*220+6306A>T (n.*220+6306A>T)
c.922A>T (p.Thr308Ser)
c.949A>T (p.Thr317Ser)
c.1804A>T (p.Thr602Ser)
c.1618A>T (p.Thr540Ser)
c.1537A>T (p.Thr513Ser)
c.1243A>T (p.Thr415Ser)
c.1624A>T (p.Thr542Ser)
2g.48687918T>CCA346744009GTF2A1L,LHCGR,STON1-GTF2A1Lc.1879A>G (p.Thr627Ala)
c.*191A>G (n.*191A>G)
c.3441+16238T>C (n.3441+16238T>C)
c.*623A>G (n.*623A>G)
c.1798A>G (p.Thr600Ala)
c.276+16238T>C (n.276+16238T>C)
c.*220+6306A>G (n.*220+6306A>G)
c.922A>G (p.Thr308Ala)
c.949A>G (p.Thr317Ala)
c.1804A>G (p.Thr602Ala)
c.1618A>G (p.Thr540Ala)
c.1537A>G (p.Thr513Ala)
c.1243A>G (p.Thr415Ala)
c.1624A>G (p.Thr542Ala)
2g.48687918T>GCA346744010GTF2A1L,LHCGR,STON1-GTF2A1Lc.1879A>C (p.Thr627Pro)
c.*191A>C (n.*191A>C)
c.3441+16238T>G (n.3441+16238T>G)
c.*623A>C (n.*623A>C)
c.1798A>C (p.Thr600Pro)
c.276+16238T>G (n.276+16238T>G)
c.*220+6306A>C (n.*220+6306A>C)
c.922A>C (p.Thr308Pro)
c.949A>C (p.Thr317Pro)
c.1804A>C (p.Thr602Pro)
c.1618A>C (p.Thr540Pro)
c.1537A>C (p.Thr513Pro)
c.1243A>C (p.Thr415Pro)
c.1624A>C (p.Thr542Pro)
2g.48687919G>ACA426125399GTF2A1L,LHCGR,STON1-GTF2A1Lc.1878C>T (p.Phe626=)
c.*190C>T (n.*190C>T)
c.3441+16239G>A (n.3441+16239G>A)
c.*622C>T (n.*622C>T)
c.1797C>T (p.Phe599=)
c.276+16239G>A (n.276+16239G>A)
c.*220+6305C>T (n.*220+6305C>T)
c.921C>T (p.Phe307=)
c.948C>T (p.Phe316=)
c.1803C>T (p.Phe601=)
c.1617C>T (p.Phe539=)
c.1536C>T (p.Phe512=)
c.1242C>T (p.Phe414=)
c.1623C>T (p.Phe541=)
 dbSNP COSMIC
2g.48687919G>CCA346744012GTF2A1L,LHCGR,STON1-GTF2A1Lc.1878C>G (p.Phe626Leu)
c.*190C>G (n.*190C>G)
c.3441+16239G>C (n.3441+16239G>C)
c.*622C>G (n.*622C>G)
c.1797C>G (p.Phe599Leu)
c.276+16239G>C (n.276+16239G>C)
c.*220+6305C>G (n.*220+6305C>G)
c.921C>G (p.Phe307Leu)
c.948C>G (p.Phe316Leu)
c.1803C>G (p.Phe601Leu)
c.1617C>G (p.Phe539Leu)
c.1536C>G (p.Phe512Leu)
c.1242C>G (p.Phe414Leu)
c.1623C>G (p.Phe541Leu)
2g.48687919G=CA1248600901GTF2A1L,LHCGR,STON1-GTF2A1Lc.1878C= (p.Phe626=)
c.*190C= (n.*190C=)
c.3441+16239G= (n.3441+16239G=)
c.*622C= (n.*622C=)
c.1797C= (p.Phe599=)
c.276+16239G= (n.276+16239G=)
c.*220+6305C= (n.*220+6305C=)
c.921C= (p.Phe307=)
c.948C= (p.Phe316=)
c.1803C= (p.Phe601=)
c.1617C= (p.Phe539=)
c.1536C= (p.Phe512=)
c.1242C= (p.Phe414=)
c.1623C= (p.Phe541=)
2g.48687919G>TCA346744014GTF2A1L,LHCGR,STON1-GTF2A1Lc.1878C>A (p.Phe626Leu)
c.*190C>A (n.*190C>A)
c.3441+16239G>T (n.3441+16239G>T)
c.*622C>A (n.*622C>A)
c.1797C>A (p.Phe599Leu)
c.276+16239G>T (n.276+16239G>T)
c.*220+6305C>A (n.*220+6305C>A)
c.921C>A (p.Phe307Leu)
c.948C>A (p.Phe316Leu)
c.1803C>A (p.Phe601Leu)
c.1617C>A (p.Phe539Leu)
c.1536C>A (p.Phe512Leu)
c.1242C>A (p.Phe414Leu)
c.1623C>A (p.Phe541Leu)
2g.48687920A>CCA346744025GTF2A1L,LHCGR,STON1-GTF2A1Lc.1877T>G (p.Phe626Cys)
c.*189T>G (n.*189T>G)
c.3441+16240A>C (n.3441+16240A>C)
c.*621T>G (n.*621T>G)
c.1796T>G (p.Phe599Cys)
c.276+16240A>C (n.276+16240A>C)
c.*220+6304T>G (n.*220+6304T>G)
c.920T>G (p.Phe307Cys)
c.947T>G (p.Phe316Cys)
c.1802T>G (p.Phe601Cys)
c.1616T>G (p.Phe539Cys)
c.1535T>G (p.Phe512Cys)
c.1241T>G (p.Phe414Cys)
c.1622T>G (p.Phe541Cys)
2g.48687920A>GCA346744031GTF2A1L,LHCGR,STON1-GTF2A1Lc.1877T>C (p.Phe626Ser)
c.*189T>C (n.*189T>C)
c.3441+16240A>G (n.3441+16240A>G)
c.*621T>C (n.*621T>C)
c.1796T>C (p.Phe599Ser)
c.276+16240A>G (n.276+16240A>G)
c.*220+6304T>C (n.*220+6304T>C)
c.920T>C (p.Phe307Ser)
c.947T>C (p.Phe316Ser)
c.1802T>C (p.Phe601Ser)
c.1616T>C (p.Phe539Ser)
c.1535T>C (p.Phe512Ser)
c.1241T>C (p.Phe414Ser)
c.1622T>C (p.Phe541Ser)
2g.48687920A>TCA346744027GTF2A1L,LHCGR,STON1-GTF2A1Lc.1877T>A (p.Phe626Tyr)
c.*189T>A (n.*189T>A)
c.3441+16240A>T (n.3441+16240A>T)
c.*621T>A (n.*621T>A)
c.1796T>A (p.Phe599Tyr)
c.276+16240A>T (n.276+16240A>T)
c.*220+6304T>A (n.*220+6304T>A)
c.920T>A (p.Phe307Tyr)
c.947T>A (p.Phe316Tyr)
c.1802T>A (p.Phe601Tyr)
c.1616T>A (p.Phe539Tyr)
c.1535T>A (p.Phe512Tyr)
c.1241T>A (p.Phe414Tyr)
c.1622T>A (p.Phe541Tyr)
2g.48687920_48687922delinsAATCA1248600902GTF2A1L,LHCGR,STON1-GTF2A1Lc.1875_1877delinsATT (p.Ile625=)
c.*187_*189delinsATT (n.*187_*189delinsATT)
c.3441+16240_3441+16242delinsAAT (n.3441+16240_3441+16242delinsAAT)
c.*619_*621delinsATT (n.*619_*621delinsATT)
c.1794_1796delinsATT (p.Ile598=)
c.276+16240_276+16242delinsAAT (n.276+16240_276+16242delinsAAT)
c.*220+6302_*220+6304delinsATT (n.*220+6302_*220+6304delinsATT)
c.918_920delinsATT (p.Ile306=)
c.945_947delinsATT (p.Ile315=)
c.1800_1802delinsATT (p.Ile600=)
c.1614_1616delinsATT (p.Ile538=)
c.1533_1535delinsATT (p.Ile511=)
c.1239_1241delinsATT (p.Ile413=)
c.1620_1622delinsATT (p.Ile540=)
2g.48687921A>CCA346744034GTF2A1L,LHCGR,STON1-GTF2A1Lc.1876T>G (p.Phe626Val)
c.*188T>G (n.*188T>G)
c.3441+16241A>C (n.3441+16241A>C)
c.*620T>G (n.*620T>G)
c.1795T>G (p.Phe599Val)
c.276+16241A>C (n.276+16241A>C)
c.*220+6303T>G (n.*220+6303T>G)
c.919T>G (p.Phe307Val)
c.946T>G (p.Phe316Val)
c.1801T>G (p.Phe601Val)
c.1615T>G (p.Phe539Val)
c.1534T>G (p.Phe512Val)
c.1240T>G (p.Phe414Val)
c.1621T>G (p.Phe541Val)
2g.48687921A>GCA346744035GTF2A1L,LHCGR,STON1-GTF2A1Lc.1876T>C (p.Phe626Leu)
c.*188T>C (n.*188T>C)
c.3441+16241A>G (n.3441+16241A>G)
c.*620T>C (n.*620T>C)
c.1795T>C (p.Phe599Leu)
c.276+16241A>G (n.276+16241A>G)
c.*220+6303T>C (n.*220+6303T>C)
c.919T>C (p.Phe307Leu)
c.946T>C (p.Phe316Leu)
c.1801T>C (p.Phe601Leu)
c.1615T>C (p.Phe539Leu)
c.1534T>C (p.Phe512Leu)
c.1240T>C (p.Phe414Leu)
c.1621T>C (p.Phe541Leu)
2g.48687921A>TCA346744037GTF2A1L,LHCGR,STON1-GTF2A1Lc.1876T>A (p.Phe626Ile)
c.*188T>A (n.*188T>A)
c.3441+16241A>T (n.3441+16241A>T)
c.*620T>A (n.*620T>A)
c.1795T>A (p.Phe599Ile)
c.276+16241A>T (n.276+16241A>T)
c.*220+6303T>A (n.*220+6303T>A)
c.919T>A (p.Phe307Ile)
c.946T>A (p.Phe316Ile)
c.1801T>A (p.Phe601Ile)
c.1615T>A (p.Phe539Ile)
c.1534T>A (p.Phe512Ile)
c.1240T>A (p.Phe414Ile)
c.1621T>A (p.Phe541Ile)
2g.48687923_48687924delCA532706160GTF2A1L,LHCGR,STON1-GTF2A1Lc.1875_1876del (p.Phe626HisfsTer2)
c.*187_*188del (n.*187_*188del)
c.3441+16243_3441+16244del (n.3441+16243_3441+16244del)
c.*619_*620del (n.*619_*620del)
c.1794_1795del (p.Phe599HisfsTer2)
c.276+16243_276+16244del (n.276+16243_276+16244del)
c.*220+6302_*220+6303del (n.*220+6302_*220+6303del)
c.918_919del (p.Phe307HisfsTer2)
c.945_946del (p.Phe316HisfsTer2)
c.1800_1801del (p.Phe601HisfsTer2)
c.1614_1615del (p.Phe539HisfsTer2)
c.1533_1534del (p.Phe512HisfsTer2)
c.1239_1240del (p.Phe414HisfsTer2)
c.1620_1621del (p.Phe541HisfsTer2)
 dbSNP gnomAD v2
2g.48687922T>ACA1652973GTF2A1L,LHCGR,STON1-GTF2A1Lc.1875A>T (p.Ile625=)
c.*187A>T (n.*187A>T)
c.3441+16242T>A (n.3441+16242T>A)
c.*619A>T (n.*619A>T)
c.1794A>T (p.Ile598=)
c.276+16242T>A (n.276+16242T>A)
c.*220+6302A>T (n.*220+6302A>T)
c.918A>T (p.Ile306=)
c.945A>T (p.Ile315=)
c.1800A>T (p.Ile600=)
c.1614A>T (p.Ile538=)
c.1533A>T (p.Ile511=)
c.1239A>T (p.Ile413=)
c.1620A>T (p.Ile540=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687922T>CCA346744038GTF2A1L,LHCGR,STON1-GTF2A1Lc.1875A>G (p.Ile625Met)
c.*187A>G (n.*187A>G)
c.3441+16242T>C (n.3441+16242T>C)
c.*619A>G (n.*619A>G)
c.1794A>G (p.Ile598Met)
c.276+16242T>C (n.276+16242T>C)
c.*220+6302A>G (n.*220+6302A>G)
c.918A>G (p.Ile306Met)
c.945A>G (p.Ile315Met)
c.1800A>G (p.Ile600Met)
c.1614A>G (p.Ile538Met)
c.1533A>G (p.Ile511Met)
c.1239A>G (p.Ile413Met)
c.1620A>G (p.Ile540Met)
2g.48687922T>GCA426125415GTF2A1L,LHCGR,STON1-GTF2A1Lc.1875A>C (p.Ile625=)
c.*187A>C (n.*187A>C)
c.3441+16242T>G (n.3441+16242T>G)
c.*619A>C (n.*619A>C)
c.1794A>C (p.Ile598=)
c.276+16242T>G (n.276+16242T>G)
c.*220+6302A>C (n.*220+6302A>C)
c.918A>C (p.Ile306=)
c.945A>C (p.Ile315=)
c.1800A>C (p.Ile600=)
c.1614A>C (p.Ile538=)
c.1533A>C (p.Ile511=)
c.1239A>C (p.Ile413=)
c.1620A>C (p.Ile540=)
2g.48687922T=CA1248600903GTF2A1L,LHCGR,STON1-GTF2A1Lc.1875A= (p.Ile625=)
c.*187A= (n.*187A=)
c.3441+16242T= (n.3441+16242T=)
c.*619A= (n.*619A=)
c.1794A= (p.Ile598=)
c.276+16242T= (n.276+16242T=)
c.*220+6302A= (n.*220+6302A=)
c.918A= (p.Ile306=)
c.945A= (p.Ile315=)
c.1800A= (p.Ile600=)
c.1614A= (p.Ile538=)
c.1533A= (p.Ile511=)
c.1239A= (p.Ile413=)
c.1620A= (p.Ile540=)
2g.48687923A=CA1248600904GTF2A1L,LHCGR,STON1-GTF2A1Lc.1874T= (p.Ile625=)
c.*186T= (n.*186T=)
c.3441+16243A= (n.3441+16243A=)
c.*618T= (n.*618T=)
c.1793T= (p.Ile598=)
c.276+16243A= (n.276+16243A=)
c.*220+6301T= (n.*220+6301T=)
c.917T= (p.Ile306=)
c.944T= (p.Ile315=)
c.1799T= (p.Ile600=)
c.1613T= (p.Ile538=)
c.1532T= (p.Ile511=)
c.1238T= (p.Ile413=)
c.1619T= (p.Ile540=)
2g.48687923A>CCA346744039GTF2A1L,LHCGR,STON1-GTF2A1Lc.1874T>G (p.Ile625Arg)
c.*186T>G (n.*186T>G)
c.3441+16243A>C (n.3441+16243A>C)
c.*618T>G (n.*618T>G)
c.1793T>G (p.Ile598Arg)
c.276+16243A>C (n.276+16243A>C)
c.*220+6301T>G (n.*220+6301T>G)
c.917T>G (p.Ile306Arg)
c.944T>G (p.Ile315Arg)
c.1799T>G (p.Ile600Arg)
c.1613T>G (p.Ile538Arg)
c.1532T>G (p.Ile511Arg)
c.1238T>G (p.Ile413Arg)
c.1619T>G (p.Ile540Arg)
2g.48687923A>GCA346744041GTF2A1L,LHCGR,STON1-GTF2A1Lc.1874T>C (p.Ile625Thr)
c.*186T>C (n.*186T>C)
c.3441+16243A>G (n.3441+16243A>G)
c.*618T>C (n.*618T>C)
c.1793T>C (p.Ile598Thr)
c.276+16243A>G (n.276+16243A>G)
c.*220+6301T>C (n.*220+6301T>C)
c.917T>C (p.Ile306Thr)
c.944T>C (p.Ile315Thr)
c.1799T>C (p.Ile600Thr)
c.1613T>C (p.Ile538Thr)
c.1532T>C (p.Ile511Thr)
c.1238T>C (p.Ile413Thr)
c.1619T>C (p.Ile540Thr)
2g.48687923A>TCA123928GTF2A1L,LHCGR,STON1-GTF2A1Lc.1874T>A (p.Ile625Lys)
c.*186T>A (n.*186T>A)
c.3441+16243A>T (n.3441+16243A>T)
c.*618T>A (n.*618T>A)
c.1793T>A (p.Ile598Lys)
c.276+16243A>T (n.276+16243A>T)
c.*220+6301T>A (n.*220+6301T>A)
c.917T>A (p.Ile306Lys)
c.944T>A (p.Ile315Lys)
c.1799T>A (p.Ile600Lys)
c.1613T>A (p.Ile538Lys)
c.1532T>A (p.Ile511Lys)
c.1238T>A (p.Ile413Lys)
c.1619T>A (p.Ile540Lys)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.48687924T>ACA346744059GTF2A1L,LHCGR,STON1-GTF2A1Lc.1873A>T (p.Ile625Leu)
c.*185A>T (n.*185A>T)
c.3441+16244T>A (n.3441+16244T>A)
c.*617A>T (n.*617A>T)
c.1792A>T (p.Ile598Leu)
c.276+16244T>A (n.276+16244T>A)
c.*220+6300A>T (n.*220+6300A>T)
c.916A>T (p.Ile306Leu)
c.943A>T (p.Ile315Leu)
c.1798A>T (p.Ile600Leu)
c.1612A>T (p.Ile538Leu)
c.1531A>T (p.Ile511Leu)
c.1237A>T (p.Ile413Leu)
c.1618A>T (p.Ile540Leu)
2g.48687924T>CCA346744061GTF2A1L,LHCGR,STON1-GTF2A1Lc.1873A>G (p.Ile625Val)
c.*185A>G (n.*185A>G)
c.3441+16244T>C (n.3441+16244T>C)
c.*617A>G (n.*617A>G)
c.1792A>G (p.Ile598Val)
c.276+16244T>C (n.276+16244T>C)
c.*220+6300A>G (n.*220+6300A>G)
c.916A>G (p.Ile306Val)
c.943A>G (p.Ile315Val)
c.1798A>G (p.Ile600Val)
c.1612A>G (p.Ile538Val)
c.1531A>G (p.Ile511Val)
c.1237A>G (p.Ile413Val)
c.1618A>G (p.Ile540Val)
 gnomAD v4
2g.48687924T>GCA346744063GTF2A1L,LHCGR,STON1-GTF2A1Lc.1873A>C (p.Ile625Leu)
c.*185A>C (n.*185A>C)
c.3441+16244T>G (n.3441+16244T>G)
c.*617A>C (n.*617A>C)
c.1792A>C (p.Ile598Leu)
c.276+16244T>G (n.276+16244T>G)
c.*220+6300A>C (n.*220+6300A>C)
c.916A>C (p.Ile306Leu)
c.943A>C (p.Ile315Leu)
c.1798A>C (p.Ile600Leu)
c.1612A>C (p.Ile538Leu)
c.1531A>C (p.Ile511Leu)
c.1237A>C (p.Ile413Leu)
c.1618A>C (p.Ile540Leu)
2g.48687925T>ACA426125423GTF2A1L,LHCGR,STON1-GTF2A1Lc.1872A>T (p.Ala624=)
c.*184A>T (n.*184A>T)
c.3441+16245T>A (n.3441+16245T>A)
c.*616A>T (n.*616A>T)
c.1791A>T (p.Ala597=)
c.276+16245T>A (n.276+16245T>A)
c.*220+6299A>T (n.*220+6299A>T)
c.915A>T (p.Ala305=)
c.942A>T (p.Ala314=)
c.1797A>T (p.Ala599=)
c.1611A>T (p.Ala537=)
c.1530A>T (p.Ala510=)
c.1236A>T (p.Ala412=)
c.1617A>T (p.Ala539=)
2g.48687925T>CCA426125424GTF2A1L,LHCGR,STON1-GTF2A1Lc.1872A>G (p.Ala624=)
c.*184A>G (n.*184A>G)
c.3441+16245T>C (n.3441+16245T>C)
c.*616A>G (n.*616A>G)
c.1791A>G (p.Ala597=)
c.276+16245T>C (n.276+16245T>C)
c.*220+6299A>G (n.*220+6299A>G)
c.915A>G (p.Ala305=)
c.942A>G (p.Ala314=)
c.1797A>G (p.Ala599=)
c.1611A>G (p.Ala537=)
c.1530A>G (p.Ala510=)
c.1236A>G (p.Ala412=)
c.1617A>G (p.Ala539=)
2g.48687925T>GCA426125425GTF2A1L,LHCGR,STON1-GTF2A1Lc.1872A>C (p.Ala624=)
c.*184A>C (n.*184A>C)
c.3441+16245T>G (n.3441+16245T>G)
c.*616A>C (n.*616A>C)
c.1791A>C (p.Ala597=)
c.276+16245T>G (n.276+16245T>G)
c.*220+6299A>C (n.*220+6299A>C)
c.915A>C (p.Ala305=)
c.942A>C (p.Ala314=)
c.1797A>C (p.Ala599=)
c.1611A>C (p.Ala537=)
c.1530A>C (p.Ala510=)
c.1236A>C (p.Ala412=)
c.1617A>C (p.Ala539=)
2g.48687926G>ACA346744066GTF2A1L,LHCGR,STON1-GTF2A1Lc.1871C>T (p.Ala624Val)
c.*183C>T (n.*183C>T)
c.3441+16246G>A (n.3441+16246G>A)
c.*615C>T (n.*615C>T)
c.1790C>T (p.Ala597Val)
c.276+16246G>A (n.276+16246G>A)
c.*220+6298C>T (n.*220+6298C>T)
c.914C>T (p.Ala305Val)
c.941C>T (p.Ala314Val)
c.1796C>T (p.Ala599Val)
c.1610C>T (p.Ala537Val)
c.1529C>T (p.Ala510Val)
c.1235C>T (p.Ala412Val)
c.1616C>T (p.Ala539Val)
 dbSNP
2g.48687926G>CCA346744067GTF2A1L,LHCGR,STON1-GTF2A1Lc.1871C>G (p.Ala624Gly)
c.*183C>G (n.*183C>G)
c.3441+16246G>C (n.3441+16246G>C)
c.*615C>G (n.*615C>G)
c.1790C>G (p.Ala597Gly)
c.276+16246G>C (n.276+16246G>C)
c.*220+6298C>G (n.*220+6298C>G)
c.914C>G (p.Ala305Gly)
c.941C>G (p.Ala314Gly)
c.1796C>G (p.Ala599Gly)
c.1610C>G (p.Ala537Gly)
c.1529C>G (p.Ala510Gly)
c.1235C>G (p.Ala412Gly)
c.1616C>G (p.Ala539Gly)
2g.48687926G=CA1248600905GTF2A1L,LHCGR,STON1-GTF2A1Lc.1871C= (p.Ala624=)
c.*183C= (n.*183C=)
c.3441+16246G= (n.3441+16246G=)
c.*615C= (n.*615C=)
c.1790C= (p.Ala597=)
c.276+16246G= (n.276+16246G=)
c.*220+6298C= (n.*220+6298C=)
c.914C= (p.Ala305=)
c.941C= (p.Ala314=)
c.1796C= (p.Ala599=)
c.1610C= (p.Ala537=)
c.1529C= (p.Ala510=)
c.1235C= (p.Ala412=)
c.1616C= (p.Ala539=)
2g.48687926G>TCA346744068GTF2A1L,LHCGR,STON1-GTF2A1Lc.1871C>A (p.Ala624Glu)
c.*183C>A (n.*183C>A)
c.3441+16246G>T (n.3441+16246G>T)
c.*615C>A (n.*615C>A)
c.1790C>A (p.Ala597Glu)
c.276+16246G>T (n.276+16246G>T)
c.*220+6298C>A (n.*220+6298C>A)
c.914C>A (p.Ala305Glu)
c.941C>A (p.Ala314Glu)
c.1796C>A (p.Ala599Glu)
c.1610C>A (p.Ala537Glu)
c.1529C>A (p.Ala510Glu)
c.1235C>A (p.Ala412Glu)
c.1616C>A (p.Ala539Glu)
2g.48687926_48687927insTTCA532706161GTF2A1L,LHCGR,STON1-GTF2A1Lc.1870_1871insAA (p.Ala624GlufsTer16)
c.*182_*183insAA (n.*182_*183insAA)
c.3441+16246_3441+16247insTT (n.3441+16246_3441+16247insTT)
c.*614_*615insAA (n.*614_*615insAA)
c.1789_1790insAA (p.Ala597GlufsTer16)
c.276+16246_276+16247insTT (n.276+16246_276+16247insTT)
c.*220+6297_*220+6298insAA (n.*220+6297_*220+6298insAA)
c.913_914insAA (p.Ala305GlufsTer16)
c.940_941insAA (p.Ala314GlufsTer16)
c.1795_1796insAA (p.Ala599GlufsTer16)
c.1609_1610insAA (p.Ala537GlufsTer16)
c.1528_1529insAA (p.Ala510GlufsTer16)
c.1234_1235insAA (p.Ala412GlufsTer16)
c.1615_1616insAA (p.Ala539GlufsTer16)
 dbSNP gnomAD v2
2g.48687927C>ACA346744069GTF2A1L,LHCGR,STON1-GTF2A1Lc.1870G>T (p.Ala624Ser)
c.*182G>T (n.*182G>T)
c.3441+16247C>A (n.3441+16247C>A)
c.*614G>T (n.*614G>T)
c.1789G>T (p.Ala597Ser)
c.276+16247C>A (n.276+16247C>A)
c.*220+6297G>T (n.*220+6297G>T)
c.913G>T (p.Ala305Ser)
c.940G>T (p.Ala314Ser)
c.1795G>T (p.Ala599Ser)
c.1609G>T (p.Ala537Ser)
c.1528G>T (p.Ala510Ser)
c.1234G>T (p.Ala412Ser)
c.1615G>T (p.Ala539Ser)
2g.48687927C>GCA346744072GTF2A1L,LHCGR,STON1-GTF2A1Lc.1870G>C (p.Ala624Pro)
c.*182G>C (n.*182G>C)
c.3441+16247C>G (n.3441+16247C>G)
c.*614G>C (n.*614G>C)
c.1789G>C (p.Ala597Pro)
c.276+16247C>G (n.276+16247C>G)
c.*220+6297G>C (n.*220+6297G>C)
c.913G>C (p.Ala305Pro)
c.940G>C (p.Ala314Pro)
c.1795G>C (p.Ala599Pro)
c.1609G>C (p.Ala537Pro)
c.1528G>C (p.Ala510Pro)
c.1234G>C (p.Ala412Pro)
c.1615G>C (p.Ala539Pro)
2g.48687927C>TCA346744076GTF2A1L,LHCGR,STON1-GTF2A1Lc.1870G>A (p.Ala624Thr)
c.*182G>A (n.*182G>A)
c.3441+16247C>T (n.3441+16247C>T)
c.*614G>A (n.*614G>A)
c.1789G>A (p.Ala597Thr)
c.276+16247C>T (n.276+16247C>T)
c.*220+6297G>A (n.*220+6297G>A)
c.913G>A (p.Ala305Thr)
c.940G>A (p.Ala314Thr)
c.1795G>A (p.Ala599Thr)
c.1609G>A (p.Ala537Thr)
c.1528G>A (p.Ala510Thr)
c.1234G>A (p.Ala412Thr)
c.1615G>A (p.Ala539Thr)
2g.48687928A=CA1248600906GTF2A1L,LHCGR,STON1-GTF2A1Lc.1869T= (p.Tyr623=)
c.*181T= (n.*181T=)
c.3441+16248A= (n.3441+16248A=)
c.*613T= (n.*613T=)
c.1788T= (p.Tyr596=)
c.276+16248A= (n.276+16248A=)
c.*220+6296T= (n.*220+6296T=)
c.912T= (p.Tyr304=)
c.939T= (p.Tyr313=)
c.1794T= (p.Tyr598=)
c.1608T= (p.Tyr536=)
c.1527T= (p.Tyr509=)
c.1233T= (p.Tyr411=)
c.1614T= (p.Tyr538=)
2g.48687928A>CCA346744078GTF2A1L,LHCGR,STON1-GTF2A1Lc.1869T>G (p.Tyr623Ter)
c.*181T>G (n.*181T>G)
c.3441+16248A>C (n.3441+16248A>C)
c.*613T>G (n.*613T>G)
c.1788T>G (p.Tyr596Ter)
c.276+16248A>C (n.276+16248A>C)
c.*220+6296T>G (n.*220+6296T>G)
c.912T>G (p.Tyr304Ter)
c.939T>G (p.Tyr313Ter)
c.1794T>G (p.Tyr598Ter)
c.1608T>G (p.Tyr536Ter)
c.1527T>G (p.Tyr509Ter)
c.1233T>G (p.Tyr411Ter)
c.1614T>G (p.Tyr538Ter)
 ClinVar dbSNP
2g.48687928A>GCA1652974GTF2A1L,LHCGR,STON1-GTF2A1Lc.1869T>C (p.Tyr623=)
c.*181T>C (n.*181T>C)
c.3441+16248A>G (n.3441+16248A>G)
c.*613T>C (n.*613T>C)
c.1788T>C (p.Tyr596=)
c.276+16248A>G (n.276+16248A>G)
c.*220+6296T>C (n.*220+6296T>C)
c.912T>C (p.Tyr304=)
c.939T>C (p.Tyr313=)
c.1794T>C (p.Tyr598=)
c.1608T>C (p.Tyr536=)
c.1527T>C (p.Tyr509=)
c.1233T>C (p.Tyr411=)
c.1614T>C (p.Tyr538=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687928A>TCA346744082GTF2A1L,LHCGR,STON1-GTF2A1Lc.1869T>A (p.Tyr623Ter)
c.*181T>A (n.*181T>A)
c.3441+16248A>T (n.3441+16248A>T)
c.*613T>A (n.*613T>A)
c.1788T>A (p.Tyr596Ter)
c.276+16248A>T (n.276+16248A>T)
c.*220+6296T>A (n.*220+6296T>A)
c.912T>A (p.Tyr304Ter)
c.939T>A (p.Tyr313Ter)
c.1794T>A (p.Tyr598Ter)
c.1608T>A (p.Tyr536Ter)
c.1527T>A (p.Tyr509Ter)
c.1233T>A (p.Tyr411Ter)
c.1614T>A (p.Tyr538Ter)
 dbSNP gnomAD v2
2g.48687929T>ACA346744084GTF2A1L,LHCGR,STON1-GTF2A1Lc.1868A>T (p.Tyr623Phe)
c.*180A>T (n.*180A>T)
c.3441+16249T>A (n.3441+16249T>A)
c.*612A>T (n.*612A>T)
c.1787A>T (p.Tyr596Phe)
c.276+16249T>A (n.276+16249T>A)
c.*220+6295A>T (n.*220+6295A>T)
c.911A>T (p.Tyr304Phe)
c.938A>T (p.Tyr313Phe)
c.1793A>T (p.Tyr598Phe)
c.1607A>T (p.Tyr536Phe)
c.1526A>T (p.Tyr509Phe)
c.1232A>T (p.Tyr411Phe)
c.1613A>T (p.Tyr538Phe)
2g.48687929T>CCA346744086GTF2A1L,LHCGR,STON1-GTF2A1Lc.1868A>G (p.Tyr623Cys)
c.*180A>G (n.*180A>G)
c.3441+16249T>C (n.3441+16249T>C)
c.*612A>G (n.*612A>G)
c.1787A>G (p.Tyr596Cys)
c.276+16249T>C (n.276+16249T>C)
c.*220+6295A>G (n.*220+6295A>G)
c.911A>G (p.Tyr304Cys)
c.938A>G (p.Tyr313Cys)
c.1793A>G (p.Tyr598Cys)
c.1607A>G (p.Tyr536Cys)
c.1526A>G (p.Tyr509Cys)
c.1232A>G (p.Tyr411Cys)
c.1613A>G (p.Tyr538Cys)
2g.48687929T>GCA346744085GTF2A1L,LHCGR,STON1-GTF2A1Lc.1868A>C (p.Tyr623Ser)
c.*180A>C (n.*180A>C)
c.3441+16249T>G (n.3441+16249T>G)
c.*612A>C (n.*612A>C)
c.1787A>C (p.Tyr596Ser)
c.276+16249T>G (n.276+16249T>G)
c.*220+6295A>C (n.*220+6295A>C)
c.911A>C (p.Tyr304Ser)
c.938A>C (p.Tyr313Ser)
c.1793A>C (p.Tyr598Ser)
c.1607A>C (p.Tyr536Ser)
c.1526A>C (p.Tyr509Ser)
c.1232A>C (p.Tyr411Ser)
c.1613A>C (p.Tyr538Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48687929T=CA1248600907GTF2A1L,LHCGR,STON1-GTF2A1Lc.1868A= (p.Tyr623=)
c.*180A= (n.*180A=)
c.3441+16249T= (n.3441+16249T=)
c.*612A= (n.*612A=)
c.1787A= (p.Tyr596=)
c.276+16249T= (n.276+16249T=)
c.*220+6295A= (n.*220+6295A=)
c.911A= (p.Tyr304=)
c.938A= (p.Tyr313=)
c.1793A= (p.Tyr598=)
c.1607A= (p.Tyr536=)
c.1526A= (p.Tyr509=)
c.1232A= (p.Tyr411=)
c.1613A= (p.Tyr538=)
2g.48687930A>CCA346744087GTF2A1L,LHCGR,STON1-GTF2A1Lc.1867T>G (p.Tyr623Asp)
c.*179T>G (n.*179T>G)
c.3441+16250A>C (n.3441+16250A>C)
c.*611T>G (n.*611T>G)
c.1786T>G (p.Tyr596Asp)
c.276+16250A>C (n.276+16250A>C)
c.*220+6294T>G (n.*220+6294T>G)
c.910T>G (p.Tyr304Asp)
c.937T>G (p.Tyr313Asp)
c.1792T>G (p.Tyr598Asp)
c.1606T>G (p.Tyr536Asp)
c.1525T>G (p.Tyr509Asp)
c.1231T>G (p.Tyr411Asp)
c.1612T>G (p.Tyr538Asp)
2g.48687930A>GCA346744088GTF2A1L,LHCGR,STON1-GTF2A1Lc.1867T>C (p.Tyr623His)
c.*179T>C (n.*179T>C)
c.3441+16250A>G (n.3441+16250A>G)
c.*611T>C (n.*611T>C)
c.1786T>C (p.Tyr596His)
c.276+16250A>G (n.276+16250A>G)
c.*220+6294T>C (n.*220+6294T>C)
c.910T>C (p.Tyr304His)
c.937T>C (p.Tyr313His)
c.1792T>C (p.Tyr598His)
c.1606T>C (p.Tyr536His)
c.1525T>C (p.Tyr509His)
c.1231T>C (p.Tyr411His)
c.1612T>C (p.Tyr538His)
2g.48687930A>TCA346744089GTF2A1L,LHCGR,STON1-GTF2A1Lc.1867T>A (p.Tyr623Asn)
c.*179T>A (n.*179T>A)
c.3441+16250A>T (n.3441+16250A>T)
c.*611T>A (n.*611T>A)
c.1786T>A (p.Tyr596Asn)
c.276+16250A>T (n.276+16250A>T)
c.*220+6294T>A (n.*220+6294T>A)
c.910T>A (p.Tyr304Asn)
c.937T>A (p.Tyr313Asn)
c.1792T>A (p.Tyr598Asn)
c.1606T>A (p.Tyr536Asn)
c.1525T>A (p.Tyr509Asn)
c.1231T>A (p.Tyr411Asn)
c.1612T>A (p.Tyr538Asn)
2g.48687931C>ACA426125446GTF2A1L,LHCGR,STON1-GTF2A1Lc.1866G>T (p.Leu622=)
c.*178G>T (n.*178G>T)
c.3441+16251C>A (n.3441+16251C>A)
c.*610G>T (n.*610G>T)
c.1785G>T (p.Leu595=)
c.276+16251C>A (n.276+16251C>A)
c.*220+6293G>T (n.*220+6293G>T)
c.909G>T (p.Leu303=)
c.936G>T (p.Leu312=)
c.1791G>T (p.Leu597=)
c.1605G>T (p.Leu535=)
c.1524G>T (p.Leu508=)
c.1230G>T (p.Leu410=)
c.1611G>T (p.Leu537=)
2g.48687931C=CA1248600908GTF2A1L,LHCGR,STON1-GTF2A1Lc.1866G= (p.Leu622=)
c.*178G= (n.*178G=)
c.3441+16251C= (n.3441+16251C=)
c.*610G= (n.*610G=)
c.1785G= (p.Leu595=)
c.276+16251C= (n.276+16251C=)
c.*220+6293G= (n.*220+6293G=)
c.909G= (p.Leu303=)
c.936G= (p.Leu312=)
c.1791G= (p.Leu597=)
c.1605G= (p.Leu535=)
c.1524G= (p.Leu508=)
c.1230G= (p.Leu410=)
c.1611G= (p.Leu537=)
2g.48687931C>GCA426125445GTF2A1L,LHCGR,STON1-GTF2A1Lc.1866G>C (p.Leu622=)
c.*178G>C (n.*178G>C)
c.3441+16251C>G (n.3441+16251C>G)
c.*610G>C (n.*610G>C)
c.1785G>C (p.Leu595=)
c.276+16251C>G (n.276+16251C>G)
c.*220+6293G>C (n.*220+6293G>C)
c.909G>C (p.Leu303=)
c.936G>C (p.Leu312=)
c.1791G>C (p.Leu597=)
c.1605G>C (p.Leu535=)
c.1524G>C (p.Leu508=)
c.1230G>C (p.Leu410=)
c.1611G>C (p.Leu537=)
 dbSNP gnomAD v2 gnomAD v4
2g.48687931C>TCA426125443GTF2A1L,LHCGR,STON1-GTF2A1Lc.1866G>A (p.Leu622=)
c.*178G>A (n.*178G>A)
c.3441+16251C>T (n.3441+16251C>T)
c.*610G>A (n.*610G>A)
c.1785G>A (p.Leu595=)
c.276+16251C>T (n.276+16251C>T)
c.*220+6293G>A (n.*220+6293G>A)
c.909G>A (p.Leu303=)
c.936G>A (p.Leu312=)
c.1791G>A (p.Leu597=)
c.1605G>A (p.Leu535=)
c.1524G>A (p.Leu508=)
c.1230G>A (p.Leu410=)
c.1611G>A (p.Leu537=)
2g.48687932A>CCA346744091GTF2A1L,LHCGR,STON1-GTF2A1Lc.1865T>G (p.Leu622Arg)
c.*177T>G (n.*177T>G)
c.3441+16252A>C (n.3441+16252A>C)
c.*609T>G (n.*609T>G)
c.1784T>G (p.Leu595Arg)
c.276+16252A>C (n.276+16252A>C)
c.*220+6292T>G (n.*220+6292T>G)
c.908T>G (p.Leu303Arg)
c.935T>G (p.Leu312Arg)
c.1790T>G (p.Leu597Arg)
c.1604T>G (p.Leu535Arg)
c.1523T>G (p.Leu508Arg)
c.1229T>G (p.Leu410Arg)
c.1610T>G (p.Leu537Arg)
2g.48687932A>GCA346744092GTF2A1L,LHCGR,STON1-GTF2A1Lc.1865T>C (p.Leu622Pro)
c.*177T>C (n.*177T>C)
c.3441+16252A>G (n.3441+16252A>G)
c.*609T>C (n.*609T>C)
c.1784T>C (p.Leu595Pro)
c.276+16252A>G (n.276+16252A>G)
c.*220+6292T>C (n.*220+6292T>C)
c.908T>C (p.Leu303Pro)
c.935T>C (p.Leu312Pro)
c.1790T>C (p.Leu597Pro)
c.1604T>C (p.Leu535Pro)
c.1523T>C (p.Leu508Pro)
c.1229T>C (p.Leu410Pro)
c.1610T>C (p.Leu537Pro)
2g.48687932A>TCA346744093GTF2A1L,LHCGR,STON1-GTF2A1Lc.1865T>A (p.Leu622Gln)
c.*177T>A (n.*177T>A)
c.3441+16252A>T (n.3441+16252A>T)
c.*609T>A (n.*609T>A)
c.1784T>A (p.Leu595Gln)
c.276+16252A>T (n.276+16252A>T)
c.*220+6292T>A (n.*220+6292T>A)
c.908T>A (p.Leu303Gln)
c.935T>A (p.Leu312Gln)
c.1790T>A (p.Leu597Gln)
c.1604T>A (p.Leu535Gln)
c.1523T>A (p.Leu508Gln)
c.1229T>A (p.Leu410Gln)
c.1610T>A (p.Leu537Gln)
2g.48687933G>ACA426125455GTF2A1L,LHCGR,STON1-GTF2A1Lc.1864C>T (p.Leu622=)
c.*176C>T (n.*176C>T)
c.3441+16253G>A (n.3441+16253G>A)
c.*608C>T (n.*608C>T)
c.1783C>T (p.Leu595=)
c.276+16253G>A (n.276+16253G>A)
c.*220+6291C>T (n.*220+6291C>T)
c.907C>T (p.Leu303=)
c.934C>T (p.Leu312=)
c.1789C>T (p.Leu597=)
c.1603C>T (p.Leu535=)
c.1522C>T (p.Leu508=)
c.1228C>T (p.Leu410=)
c.1609C>T (p.Leu537=)
2g.48687933G>CCA346744094GTF2A1L,LHCGR,STON1-GTF2A1Lc.1864C>G (p.Leu622Val)
c.*176C>G (n.*176C>G)
c.3441+16253G>C (n.3441+16253G>C)
c.*608C>G (n.*608C>G)
c.1783C>G (p.Leu595Val)
c.276+16253G>C (n.276+16253G>C)
c.*220+6291C>G (n.*220+6291C>G)
c.907C>G (p.Leu303Val)
c.934C>G (p.Leu312Val)
c.1789C>G (p.Leu597Val)
c.1603C>G (p.Leu535Val)
c.1522C>G (p.Leu508Val)
c.1228C>G (p.Leu410Val)
c.1609C>G (p.Leu537Val)
2g.48687933G=CA1248600909GTF2A1L,LHCGR,STON1-GTF2A1Lc.1864C= (p.Leu622=)
c.*176C= (n.*176C=)
c.3441+16253G= (n.3441+16253G=)
c.*608C= (n.*608C=)
c.1783C= (p.Leu595=)
c.276+16253G= (n.276+16253G=)
c.*220+6291C= (n.*220+6291C=)
c.907C= (p.Leu303=)
c.934C= (p.Leu312=)
c.1789C= (p.Leu597=)
c.1603C= (p.Leu535=)
c.1522C= (p.Leu508=)
c.1228C= (p.Leu410=)
c.1609C= (p.Leu537=)
2g.48687933G>TCA346744096GTF2A1L,LHCGR,STON1-GTF2A1Lc.1864C>A (p.Leu622Met)
c.*176C>A (n.*176C>A)
c.3441+16253G>T (n.3441+16253G>T)
c.*608C>A (n.*608C>A)
c.1783C>A (p.Leu595Met)
c.276+16253G>T (n.276+16253G>T)
c.*220+6291C>A (n.*220+6291C>A)
c.907C>A (p.Leu303Met)
c.934C>A (p.Leu312Met)
c.1789C>A (p.Leu597Met)
c.1603C>A (p.Leu535Met)
c.1522C>A (p.Leu508Met)
c.1228C>A (p.Leu410Met)
c.1609C>A (p.Leu537Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.48687934A>CCA346744104GTF2A1L,LHCGR,STON1-GTF2A1Lc.1863T>G (p.Phe621Leu)
c.*175T>G (n.*175T>G)
c.3441+16254A>C (n.3441+16254A>C)
c.*607T>G (n.*607T>G)
c.1782T>G (p.Phe594Leu)
c.276+16254A>C (n.276+16254A>C)
c.*220+6290T>G (n.*220+6290T>G)
c.906T>G (p.Phe302Leu)
c.933T>G (p.Phe311Leu)
c.1788T>G (p.Phe596Leu)
c.1602T>G (p.Phe534Leu)
c.1521T>G (p.Phe507Leu)
c.1227T>G (p.Phe409Leu)
c.1608T>G (p.Phe536Leu)
2g.48687934A>GCA426125462GTF2A1L,LHCGR,STON1-GTF2A1Lc.1863T>C (p.Phe621=)
c.*175T>C (n.*175T>C)
c.3441+16254A>G (n.3441+16254A>G)
c.*607T>C (n.*607T>C)
c.1782T>C (p.Phe594=)
c.276+16254A>G (n.276+16254A>G)
c.*220+6290T>C (n.*220+6290T>C)
c.906T>C (p.Phe302=)
c.933T>C (p.Phe311=)
c.1788T>C (p.Phe596=)
c.1602T>C (p.Phe534=)
c.1521T>C (p.Phe507=)
c.1227T>C (p.Phe409=)
c.1608T>C (p.Phe536=)
2g.48687934A>TCA346744108GTF2A1L,LHCGR,STON1-GTF2A1Lc.1863T>A (p.Phe621Leu)
c.*175T>A (n.*175T>A)
c.3441+16254A>T (n.3441+16254A>T)
c.*607T>A (n.*607T>A)
c.1782T>A (p.Phe594Leu)
c.276+16254A>T (n.276+16254A>T)
c.*220+6290T>A (n.*220+6290T>A)
c.906T>A (p.Phe302Leu)
c.933T>A (p.Phe311Leu)
c.1788T>A (p.Phe596Leu)
c.1602T>A (p.Phe534Leu)
c.1521T>A (p.Phe507Leu)
c.1227T>A (p.Phe409Leu)
c.1608T>A (p.Phe536Leu)
2g.48687935A=CA1248600910GTF2A1L,LHCGR,STON1-GTF2A1Lc.1862T= (p.Phe621=)
c.*174T= (n.*174T=)
c.3441+16255A= (n.3441+16255A=)
c.*606T= (n.*606T=)
c.1781T= (p.Phe594=)
c.276+16255A= (n.276+16255A=)
c.*220+6289T= (n.*220+6289T=)
c.905T= (p.Phe302=)
c.932T= (p.Phe311=)
c.1787T= (p.Phe596=)
c.1601T= (p.Phe534=)
c.1520T= (p.Phe507=)
c.1226T= (p.Phe409=)
c.1607T= (p.Phe536=)
2g.48687935A>CCA346744110GTF2A1L,LHCGR,STON1-GTF2A1Lc.1862T>G (p.Phe621Cys)
c.*174T>G (n.*174T>G)
c.3441+16255A>C (n.3441+16255A>C)
c.*606T>G (n.*606T>G)
c.1781T>G (p.Phe594Cys)
c.276+16255A>C (n.276+16255A>C)
c.*220+6289T>G (n.*220+6289T>G)
c.905T>G (p.Phe302Cys)
c.932T>G (p.Phe311Cys)
c.1787T>G (p.Phe596Cys)
c.1601T>G (p.Phe534Cys)
c.1520T>G (p.Phe507Cys)
c.1226T>G (p.Phe409Cys)
c.1607T>G (p.Phe536Cys)
2g.48687935A>GCA46752647GTF2A1L,LHCGR,STON1-GTF2A1Lc.1862T>C (p.Phe621Ser)
c.*174T>C (n.*174T>C)
c.3441+16255A>G (n.3441+16255A>G)
c.*606T>C (n.*606T>C)
c.1781T>C (p.Phe594Ser)
c.276+16255A>G (n.276+16255A>G)
c.*220+6289T>C (n.*220+6289T>C)
c.905T>C (p.Phe302Ser)
c.932T>C (p.Phe311Ser)
c.1787T>C (p.Phe596Ser)
c.1601T>C (p.Phe534Ser)
c.1520T>C (p.Phe507Ser)
c.1226T>C (p.Phe409Ser)
c.1607T>C (p.Phe536Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48687935A>TCA346744119GTF2A1L,LHCGR,STON1-GTF2A1Lc.1862T>A (p.Phe621Tyr)
c.*174T>A (n.*174T>A)
c.3441+16255A>T (n.3441+16255A>T)
c.*606T>A (n.*606T>A)
c.1781T>A (p.Phe594Tyr)
c.276+16255A>T (n.276+16255A>T)
c.*220+6289T>A (n.*220+6289T>A)
c.905T>A (p.Phe302Tyr)
c.932T>A (p.Phe311Tyr)
c.1787T>A (p.Phe596Tyr)
c.1601T>A (p.Phe534Tyr)
c.1520T>A (p.Phe507Tyr)
c.1226T>A (p.Phe409Tyr)
c.1607T>A (p.Phe536Tyr)

Number of alleles fetched