Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
2g.48687936A>CCA346744139GTF2A1L,LHCGR,STON1-GTF2A1Lc.1861T>G (p.Phe621Val)
c.*173T>G (n.*173T>G)
c.3441+16256A>C (n.3441+16256A>C)
c.*605T>G (n.*605T>G)
c.1780T>G (p.Phe594Val)
c.276+16256A>C (n.276+16256A>C)
c.*220+6288T>G (n.*220+6288T>G)
c.904T>G (p.Phe302Val)
c.931T>G (p.Phe311Val)
c.1786T>G (p.Phe596Val)
c.1600T>G (p.Phe534Val)
c.1519T>G (p.Phe507Val)
c.1225T>G (p.Phe409Val)
c.1606T>G (p.Phe536Val)
2g.48687936A>GCA346744128GTF2A1L,LHCGR,STON1-GTF2A1Lc.1861T>C (p.Phe621Leu)
c.*173T>C (n.*173T>C)
c.3441+16256A>G (n.3441+16256A>G)
c.*605T>C (n.*605T>C)
c.1780T>C (p.Phe594Leu)
c.276+16256A>G (n.276+16256A>G)
c.*220+6288T>C (n.*220+6288T>C)
c.904T>C (p.Phe302Leu)
c.931T>C (p.Phe311Leu)
c.1786T>C (p.Phe596Leu)
c.1600T>C (p.Phe534Leu)
c.1519T>C (p.Phe507Leu)
c.1225T>C (p.Phe409Leu)
c.1606T>C (p.Phe536Leu)
2g.48687936A>TCA346744136GTF2A1L,LHCGR,STON1-GTF2A1Lc.1861T>A (p.Phe621Ile)
c.*173T>A (n.*173T>A)
c.3441+16256A>T (n.3441+16256A>T)
c.*605T>A (n.*605T>A)
c.1780T>A (p.Phe594Ile)
c.276+16256A>T (n.276+16256A>T)
c.*220+6288T>A (n.*220+6288T>A)
c.904T>A (p.Phe302Ile)
c.931T>A (p.Phe311Ile)
c.1786T>A (p.Phe596Ile)
c.1600T>A (p.Phe534Ile)
c.1519T>A (p.Phe507Ile)
c.1225T>A (p.Phe409Ile)
c.1606T>A (p.Phe536Ile)
2g.48687937T>ACA426125471GTF2A1L,LHCGR,STON1-GTF2A1Lc.1860A>T (p.Pro620=)
c.*172A>T (n.*172A>T)
c.3441+16257T>A (n.3441+16257T>A)
c.*604A>T (n.*604A>T)
c.1779A>T (p.Pro593=)
c.276+16257T>A (n.276+16257T>A)
c.*220+6287A>T (n.*220+6287A>T)
c.903A>T (p.Pro301=)
c.930A>T (p.Pro310=)
c.1785A>T (p.Pro595=)
c.1599A>T (p.Pro533=)
c.1518A>T (p.Pro506=)
c.1224A>T (p.Pro408=)
c.1605A>T (p.Pro535=)
 gnomAD v4
2g.48687937T>CCA426125474GTF2A1L,LHCGR,STON1-GTF2A1Lc.1860A>G (p.Pro620=)
c.*172A>G (n.*172A>G)
c.3441+16257T>C (n.3441+16257T>C)
c.*604A>G (n.*604A>G)
c.1779A>G (p.Pro593=)
c.276+16257T>C (n.276+16257T>C)
c.*220+6287A>G (n.*220+6287A>G)
c.903A>G (p.Pro301=)
c.930A>G (p.Pro310=)
c.1785A>G (p.Pro595=)
c.1599A>G (p.Pro533=)
c.1518A>G (p.Pro506=)
c.1224A>G (p.Pro408=)
c.1605A>G (p.Pro535=)
 dbSNP gnomAD v2 gnomAD v4
2g.48687937T>GCA426125475GTF2A1L,LHCGR,STON1-GTF2A1Lc.1860A>C (p.Pro620=)
c.*172A>C (n.*172A>C)
c.3441+16257T>G (n.3441+16257T>G)
c.*604A>C (n.*604A>C)
c.1779A>C (p.Pro593=)
c.276+16257T>G (n.276+16257T>G)
c.*220+6287A>C (n.*220+6287A>C)
c.903A>C (p.Pro301=)
c.930A>C (p.Pro310=)
c.1785A>C (p.Pro595=)
c.1599A>C (p.Pro533=)
c.1518A>C (p.Pro506=)
c.1224A>C (p.Pro408=)
c.1605A>C (p.Pro535=)
2g.48687937T=CA1248600911GTF2A1L,LHCGR,STON1-GTF2A1Lc.1860A= (p.Pro620=)
c.*172A= (n.*172A=)
c.3441+16257T= (n.3441+16257T=)
c.*604A= (n.*604A=)
c.1779A= (p.Pro593=)
c.276+16257T= (n.276+16257T=)
c.*220+6287A= (n.*220+6287A=)
c.903A= (p.Pro301=)
c.930A= (p.Pro310=)
c.1785A= (p.Pro595=)
c.1599A= (p.Pro533=)
c.1518A= (p.Pro506=)
c.1224A= (p.Pro408=)
c.1605A= (p.Pro535=)
2g.48687938G>ACA346744144GTF2A1L,LHCGR,STON1-GTF2A1Lc.1859C>T (p.Pro620Leu)
c.*171C>T (n.*171C>T)
c.3441+16258G>A (n.3441+16258G>A)
c.*603C>T (n.*603C>T)
c.1778C>T (p.Pro593Leu)
c.276+16258G>A (n.276+16258G>A)
c.*220+6286C>T (n.*220+6286C>T)
c.902C>T (p.Pro301Leu)
c.929C>T (p.Pro310Leu)
c.1784C>T (p.Pro595Leu)
c.1598C>T (p.Pro533Leu)
c.1517C>T (p.Pro506Leu)
c.1223C>T (p.Pro408Leu)
c.1604C>T (p.Pro535Leu)
 gnomAD v4
2g.48687938G>CCA346744145GTF2A1L,LHCGR,STON1-GTF2A1Lc.1859C>G (p.Pro620Arg)
c.*171C>G (n.*171C>G)
c.3441+16258G>C (n.3441+16258G>C)
c.*603C>G (n.*603C>G)
c.1778C>G (p.Pro593Arg)
c.276+16258G>C (n.276+16258G>C)
c.*220+6286C>G (n.*220+6286C>G)
c.902C>G (p.Pro301Arg)
c.929C>G (p.Pro310Arg)
c.1784C>G (p.Pro595Arg)
c.1598C>G (p.Pro533Arg)
c.1517C>G (p.Pro506Arg)
c.1223C>G (p.Pro408Arg)
c.1604C>G (p.Pro535Arg)
2g.48687938G>TCA346744146GTF2A1L,LHCGR,STON1-GTF2A1Lc.1859C>A (p.Pro620Gln)
c.*171C>A (n.*171C>A)
c.3441+16258G>T (n.3441+16258G>T)
c.*603C>A (n.*603C>A)
c.1778C>A (p.Pro593Gln)
c.276+16258G>T (n.276+16258G>T)
c.*220+6286C>A (n.*220+6286C>A)
c.902C>A (p.Pro301Gln)
c.929C>A (p.Pro310Gln)
c.1784C>A (p.Pro595Gln)
c.1598C>A (p.Pro533Gln)
c.1517C>A (p.Pro506Gln)
c.1223C>A (p.Pro408Gln)
c.1604C>A (p.Pro535Gln)
2g.48687939G>ACA346744147GTF2A1L,LHCGR,STON1-GTF2A1Lc.1858C>T (p.Pro620Ser)
c.*170C>T (n.*170C>T)
c.3441+16259G>A (n.3441+16259G>A)
c.*602C>T (n.*602C>T)
c.1777C>T (p.Pro593Ser)
c.276+16259G>A (n.276+16259G>A)
c.*220+6285C>T (n.*220+6285C>T)
c.901C>T (p.Pro301Ser)
c.928C>T (p.Pro310Ser)
c.1783C>T (p.Pro595Ser)
c.1597C>T (p.Pro533Ser)
c.1516C>T (p.Pro506Ser)
c.1222C>T (p.Pro408Ser)
c.1603C>T (p.Pro535Ser)
 COSMIC
2g.48687939G>CCA1652975GTF2A1L,LHCGR,STON1-GTF2A1Lc.1858C>G (p.Pro620Ala)
c.*170C>G (n.*170C>G)
c.3441+16259G>C (n.3441+16259G>C)
c.*602C>G (n.*602C>G)
c.1777C>G (p.Pro593Ala)
c.276+16259G>C (n.276+16259G>C)
c.*220+6285C>G (n.*220+6285C>G)
c.901C>G (p.Pro301Ala)
c.928C>G (p.Pro310Ala)
c.1783C>G (p.Pro595Ala)
c.1597C>G (p.Pro533Ala)
c.1516C>G (p.Pro506Ala)
c.1222C>G (p.Pro408Ala)
c.1603C>G (p.Pro535Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687939G=CA1248600912GTF2A1L,LHCGR,STON1-GTF2A1Lc.1858C= (p.Pro620=)
c.*170C= (n.*170C=)
c.3441+16259G= (n.3441+16259G=)
c.*602C= (n.*602C=)
c.1777C= (p.Pro593=)
c.276+16259G= (n.276+16259G=)
c.*220+6285C= (n.*220+6285C=)
c.901C= (p.Pro301=)
c.928C= (p.Pro310=)
c.1783C= (p.Pro595=)
c.1597C= (p.Pro533=)
c.1516C= (p.Pro506=)
c.1222C= (p.Pro408=)
c.1603C= (p.Pro535=)
2g.48687939G>TCA346744155GTF2A1L,LHCGR,STON1-GTF2A1Lc.1858C>A (p.Pro620Thr)
c.*170C>A (n.*170C>A)
c.3441+16259G>T (n.3441+16259G>T)
c.*602C>A (n.*602C>A)
c.1777C>A (p.Pro593Thr)
c.276+16259G>T (n.276+16259G>T)
c.*220+6285C>A (n.*220+6285C>A)
c.901C>A (p.Pro301Thr)
c.928C>A (p.Pro310Thr)
c.1783C>A (p.Pro595Thr)
c.1597C>A (p.Pro533Thr)
c.1516C>A (p.Pro506Thr)
c.1222C>A (p.Pro408Thr)
c.1603C>A (p.Pro535Thr)
2g.48687940A>CCA346744158GTF2A1L,LHCGR,STON1-GTF2A1Lc.1857T>G (p.Asn619Lys)
c.*169T>G (n.*169T>G)
c.3441+16260A>C (n.3441+16260A>C)
c.*601T>G (n.*601T>G)
c.1776T>G (p.Asn592Lys)
c.276+16260A>C (n.276+16260A>C)
c.*220+6284T>G (n.*220+6284T>G)
c.900T>G (p.Asn300Lys)
c.927T>G (p.Asn309Lys)
c.1782T>G (p.Asn594Lys)
c.1596T>G (p.Asn532Lys)
c.1515T>G (p.Asn505Lys)
c.1221T>G (p.Asn407Lys)
c.1602T>G (p.Asn534Lys)
2g.48687940A>GCA426125488GTF2A1L,LHCGR,STON1-GTF2A1Lc.1857T>C (p.Asn619=)
c.*169T>C (n.*169T>C)
c.3441+16260A>G (n.3441+16260A>G)
c.*601T>C (n.*601T>C)
c.1776T>C (p.Asn592=)
c.276+16260A>G (n.276+16260A>G)
c.*220+6284T>C (n.*220+6284T>C)
c.900T>C (p.Asn300=)
c.927T>C (p.Asn309=)
c.1782T>C (p.Asn594=)
c.1596T>C (p.Asn532=)
c.1515T>C (p.Asn505=)
c.1221T>C (p.Asn407=)
c.1602T>C (p.Asn534=)
 dbSNP gnomAD v4
2g.48687940A>TCA346744162GTF2A1L,LHCGR,STON1-GTF2A1Lc.1857T>A (p.Asn619Lys)
c.*169T>A (n.*169T>A)
c.3441+16260A>T (n.3441+16260A>T)
c.*601T>A (n.*601T>A)
c.1776T>A (p.Asn592Lys)
c.276+16260A>T (n.276+16260A>T)
c.*220+6284T>A (n.*220+6284T>A)
c.900T>A (p.Asn300Lys)
c.927T>A (p.Asn309Lys)
c.1782T>A (p.Asn594Lys)
c.1596T>A (p.Asn532Lys)
c.1515T>A (p.Asn505Lys)
c.1221T>A (p.Asn407Lys)
c.1602T>A (p.Asn534Lys)
 gnomAD v4
2g.48687941T>ACA346744163GTF2A1L,LHCGR,STON1-GTF2A1Lc.1856A>T (p.Asn619Ile)
c.*168A>T (n.*168A>T)
c.3441+16261T>A (n.3441+16261T>A)
c.*600A>T (n.*600A>T)
c.1775A>T (p.Asn592Ile)
c.276+16261T>A (n.276+16261T>A)
c.*220+6283A>T (n.*220+6283A>T)
c.899A>T (p.Asn300Ile)
c.926A>T (p.Asn309Ile)
c.1781A>T (p.Asn594Ile)
c.1595A>T (p.Asn532Ile)
c.1514A>T (p.Asn505Ile)
c.1220A>T (p.Asn407Ile)
c.1601A>T (p.Asn534Ile)
2g.48687941T>CCA346744164GTF2A1L,LHCGR,STON1-GTF2A1Lc.1856A>G (p.Asn619Ser)
c.*168A>G (n.*168A>G)
c.3441+16261T>C (n.3441+16261T>C)
c.*600A>G (n.*600A>G)
c.1775A>G (p.Asn592Ser)
c.276+16261T>C (n.276+16261T>C)
c.*220+6283A>G (n.*220+6283A>G)
c.899A>G (p.Asn300Ser)
c.926A>G (p.Asn309Ser)
c.1781A>G (p.Asn594Ser)
c.1595A>G (p.Asn532Ser)
c.1514A>G (p.Asn505Ser)
c.1220A>G (p.Asn407Ser)
c.1601A>G (p.Asn534Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.48687941T>GCA346744167GTF2A1L,LHCGR,STON1-GTF2A1Lc.1856A>C (p.Asn619Thr)
c.*168A>C (n.*168A>C)
c.3441+16261T>G (n.3441+16261T>G)
c.*600A>C (n.*600A>C)
c.1775A>C (p.Asn592Thr)
c.276+16261T>G (n.276+16261T>G)
c.*220+6283A>C (n.*220+6283A>C)
c.899A>C (p.Asn300Thr)
c.926A>C (p.Asn309Thr)
c.1781A>C (p.Asn594Thr)
c.1595A>C (p.Asn532Thr)
c.1514A>C (p.Asn505Thr)
c.1220A>C (p.Asn407Thr)
c.1601A>C (p.Asn534Thr)
2g.48687941T=CA1248600913GTF2A1L,LHCGR,STON1-GTF2A1Lc.1856A= (p.Asn619=)
c.*168A= (n.*168A=)
c.3441+16261T= (n.3441+16261T=)
c.*600A= (n.*600A=)
c.1775A= (p.Asn592=)
c.276+16261T= (n.276+16261T=)
c.*220+6283A= (n.*220+6283A=)
c.899A= (p.Asn300=)
c.926A= (p.Asn309=)
c.1781A= (p.Asn594=)
c.1595A= (p.Asn532=)
c.1514A= (p.Asn505=)
c.1220A= (p.Asn407=)
c.1601A= (p.Asn534=)
2g.48687942T>ACA346744169GTF2A1L,LHCGR,STON1-GTF2A1Lc.1855A>T (p.Asn619Tyr)
c.*167A>T (n.*167A>T)
c.3441+16262T>A (n.3441+16262T>A)
c.*599A>T (n.*599A>T)
c.1774A>T (p.Asn592Tyr)
c.276+16262T>A (n.276+16262T>A)
c.*220+6282A>T (n.*220+6282A>T)
c.898A>T (p.Asn300Tyr)
c.925A>T (p.Asn309Tyr)
c.1780A>T (p.Asn594Tyr)
c.1594A>T (p.Asn532Tyr)
c.1513A>T (p.Asn505Tyr)
c.1219A>T (p.Asn407Tyr)
c.1600A>T (p.Asn534Tyr)
2g.48687942T>CCA346744171GTF2A1L,LHCGR,STON1-GTF2A1Lc.1855A>G (p.Asn619Asp)
c.*167A>G (n.*167A>G)
c.3441+16262T>C (n.3441+16262T>C)
c.*599A>G (n.*599A>G)
c.1774A>G (p.Asn592Asp)
c.276+16262T>C (n.276+16262T>C)
c.*220+6282A>G (n.*220+6282A>G)
c.898A>G (p.Asn300Asp)
c.925A>G (p.Asn309Asp)
c.1780A>G (p.Asn594Asp)
c.1594A>G (p.Asn532Asp)
c.1513A>G (p.Asn505Asp)
c.1219A>G (p.Asn407Asp)
c.1600A>G (p.Asn534Asp)
2g.48687942T>GCA346744170GTF2A1L,LHCGR,STON1-GTF2A1Lc.1855A>C (p.Asn619His)
c.*167A>C (n.*167A>C)
c.3441+16262T>G (n.3441+16262T>G)
c.*599A>C (n.*599A>C)
c.1774A>C (p.Asn592His)
c.276+16262T>G (n.276+16262T>G)
c.*220+6282A>C (n.*220+6282A>C)
c.898A>C (p.Asn300His)
c.925A>C (p.Asn309His)
c.1780A>C (p.Asn594His)
c.1594A>C (p.Asn532His)
c.1513A>C (p.Asn505His)
c.1219A>C (p.Asn407His)
c.1600A>C (p.Asn534His)
2g.48687943G>ACA426125498GTF2A1L,LHCGR,STON1-GTF2A1Lc.1854C>T (p.Ala618=)
c.*166C>T (n.*166C>T)
c.3441+16263G>A (n.3441+16263G>A)
c.*598C>T (n.*598C>T)
c.1773C>T (p.Ala591=)
c.276+16263G>A (n.276+16263G>A)
c.*220+6281C>T (n.*220+6281C>T)
c.897C>T (p.Ala299=)
c.924C>T (p.Ala308=)
c.1779C>T (p.Ala593=)
c.1593C>T (p.Ala531=)
c.1512C>T (p.Ala504=)
c.1218C>T (p.Ala406=)
c.1599C>T (p.Ala533=)
2g.48687943G>CCA426125500GTF2A1L,LHCGR,STON1-GTF2A1Lc.1854C>G (p.Ala618=)
c.*166C>G (n.*166C>G)
c.3441+16263G>C (n.3441+16263G>C)
c.*598C>G (n.*598C>G)
c.1773C>G (p.Ala591=)
c.276+16263G>C (n.276+16263G>C)
c.*220+6281C>G (n.*220+6281C>G)
c.897C>G (p.Ala299=)
c.924C>G (p.Ala308=)
c.1779C>G (p.Ala593=)
c.1593C>G (p.Ala531=)
c.1512C>G (p.Ala504=)
c.1218C>G (p.Ala406=)
c.1599C>G (p.Ala533=)
2g.48687943G>TCA426125502GTF2A1L,LHCGR,STON1-GTF2A1Lc.1854C>A (p.Ala618=)
c.*166C>A (n.*166C>A)
c.3441+16263G>T (n.3441+16263G>T)
c.*598C>A (n.*598C>A)
c.1773C>A (p.Ala591=)
c.276+16263G>T (n.276+16263G>T)
c.*220+6281C>A (n.*220+6281C>A)
c.897C>A (p.Ala299=)
c.924C>A (p.Ala308=)
c.1779C>A (p.Ala593=)
c.1593C>A (p.Ala531=)
c.1512C>A (p.Ala504=)
c.1218C>A (p.Ala406=)
c.1599C>A (p.Ala533=)
 gnomAD v4
2g.48687944G>ACA346744172GTF2A1L,LHCGR,STON1-GTF2A1Lc.1853C>T (p.Ala618Val)
c.*165C>T (n.*165C>T)
c.3441+16264G>A (n.3441+16264G>A)
c.*597C>T (n.*597C>T)
c.1772C>T (p.Ala591Val)
c.276+16264G>A (n.276+16264G>A)
c.*220+6280C>T (n.*220+6280C>T)
c.896C>T (p.Ala299Val)
c.923C>T (p.Ala308Val)
c.1778C>T (p.Ala593Val)
c.1592C>T (p.Ala531Val)
c.1511C>T (p.Ala504Val)
c.1217C>T (p.Ala406Val)
c.1598C>T (p.Ala533Val)
 gnomAD v4
2g.48687944G>CCA346744177GTF2A1L,LHCGR,STON1-GTF2A1Lc.1853C>G (p.Ala618Gly)
c.*165C>G (n.*165C>G)
c.3441+16264G>C (n.3441+16264G>C)
c.*597C>G (n.*597C>G)
c.1772C>G (p.Ala591Gly)
c.276+16264G>C (n.276+16264G>C)
c.*220+6280C>G (n.*220+6280C>G)
c.896C>G (p.Ala299Gly)
c.923C>G (p.Ala308Gly)
c.1778C>G (p.Ala593Gly)
c.1592C>G (p.Ala531Gly)
c.1511C>G (p.Ala504Gly)
c.1217C>G (p.Ala406Gly)
c.1598C>G (p.Ala533Gly)
2g.48687944G>TCA346744176GTF2A1L,LHCGR,STON1-GTF2A1Lc.1853C>A (p.Ala618Asp)
c.*165C>A (n.*165C>A)
c.3441+16264G>T (n.3441+16264G>T)
c.*597C>A (n.*597C>A)
c.1772C>A (p.Ala591Asp)
c.276+16264G>T (n.276+16264G>T)
c.*220+6280C>A (n.*220+6280C>A)
c.896C>A (p.Ala299Asp)
c.923C>A (p.Ala308Asp)
c.1778C>A (p.Ala593Asp)
c.1592C>A (p.Ala531Asp)
c.1511C>A (p.Ala504Asp)
c.1217C>A (p.Ala406Asp)
c.1598C>A (p.Ala533Asp)
2g.48687945C>ACA346744180GTF2A1L,LHCGR,STON1-GTF2A1Lc.1852G>T (p.Ala618Ser)
c.*164G>T (n.*164G>T)
c.3441+16265C>A (n.3441+16265C>A)
c.*596G>T (n.*596G>T)
c.1771G>T (p.Ala591Ser)
c.276+16265C>A (n.276+16265C>A)
c.*220+6279G>T (n.*220+6279G>T)
c.895G>T (p.Ala299Ser)
c.922G>T (p.Ala308Ser)
c.1777G>T (p.Ala593Ser)
c.1591G>T (p.Ala531Ser)
c.1510G>T (p.Ala504Ser)
c.1216G>T (p.Ala406Ser)
c.1597G>T (p.Ala533Ser)
 dbSNP
2g.48687945C=CA1248600914GTF2A1L,LHCGR,STON1-GTF2A1Lc.1852G= (p.Ala618=)
c.*164G= (n.*164G=)
c.3441+16265C= (n.3441+16265C=)
c.*596G= (n.*596G=)
c.1771G= (p.Ala591=)
c.276+16265C= (n.276+16265C=)
c.*220+6279G= (n.*220+6279G=)
c.895G= (p.Ala299=)
c.922G= (p.Ala308=)
c.1777G= (p.Ala593=)
c.1591G= (p.Ala531=)
c.1510G= (p.Ala504=)
c.1216G= (p.Ala406=)
c.1597G= (p.Ala533=)
2g.48687945C>GCA346744181GTF2A1L,LHCGR,STON1-GTF2A1Lc.1852G>C (p.Ala618Pro)
c.*164G>C (n.*164G>C)
c.3441+16265C>G (n.3441+16265C>G)
c.*596G>C (n.*596G>C)
c.1771G>C (p.Ala591Pro)
c.276+16265C>G (n.276+16265C>G)
c.*220+6279G>C (n.*220+6279G>C)
c.895G>C (p.Ala299Pro)
c.922G>C (p.Ala308Pro)
c.1777G>C (p.Ala593Pro)
c.1591G>C (p.Ala531Pro)
c.1510G>C (p.Ala504Pro)
c.1216G>C (p.Ala406Pro)
c.1597G>C (p.Ala533Pro)
2g.48687945C>TCA1652976GTF2A1L,LHCGR,STON1-GTF2A1Lc.1852G>A (p.Ala618Thr)
c.*164G>A (n.*164G>A)
c.3441+16265C>T (n.3441+16265C>T)
c.*596G>A (n.*596G>A)
c.1771G>A (p.Ala591Thr)
c.276+16265C>T (n.276+16265C>T)
c.*220+6279G>A (n.*220+6279G>A)
c.895G>A (p.Ala299Thr)
c.922G>A (p.Ala308Thr)
c.1777G>A (p.Ala593Thr)
c.1591G>A (p.Ala531Thr)
c.1510G>A (p.Ala504Thr)
c.1216G>A (p.Ala406Thr)
c.1597G>A (p.Ala533Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.48687946A>CCA346744184GTF2A1L,LHCGR,STON1-GTF2A1Lc.1851T>G (p.Cys617Trp)
c.*163T>G (n.*163T>G)
c.3441+16266A>C (n.3441+16266A>C)
c.*595T>G (n.*595T>G)
c.1770T>G (p.Cys590Trp)
c.276+16266A>C (n.276+16266A>C)
c.*220+6278T>G (n.*220+6278T>G)
c.894T>G (p.Cys298Trp)
c.921T>G (p.Cys307Trp)
c.1776T>G (p.Cys592Trp)
c.1590T>G (p.Cys530Trp)
c.1509T>G (p.Cys503Trp)
c.1215T>G (p.Cys405Trp)
c.1596T>G (p.Cys532Trp)
2g.48687946A>GCA426125511GTF2A1L,LHCGR,STON1-GTF2A1Lc.1851T>C (p.Cys617=)
c.*163T>C (n.*163T>C)
c.3441+16266A>G (n.3441+16266A>G)
c.*595T>C (n.*595T>C)
c.1770T>C (p.Cys590=)
c.276+16266A>G (n.276+16266A>G)
c.*220+6278T>C (n.*220+6278T>C)
c.894T>C (p.Cys298=)
c.921T>C (p.Cys307=)
c.1776T>C (p.Cys592=)
c.1590T>C (p.Cys530=)
c.1509T>C (p.Cys503=)
c.1215T>C (p.Cys405=)
c.1596T>C (p.Cys532=)
2g.48687946A>TCA346744186GTF2A1L,LHCGR,STON1-GTF2A1Lc.1851T>A (p.Cys617Ter)
c.*163T>A (n.*163T>A)
c.3441+16266A>T (n.3441+16266A>T)
c.*595T>A (n.*595T>A)
c.1770T>A (p.Cys590Ter)
c.276+16266A>T (n.276+16266A>T)
c.*220+6278T>A (n.*220+6278T>A)
c.894T>A (p.Cys298Ter)
c.921T>A (p.Cys307Ter)
c.1776T>A (p.Cys592Ter)
c.1590T>A (p.Cys530Ter)
c.1509T>A (p.Cys503Ter)
c.1215T>A (p.Cys405Ter)
c.1596T>A (p.Cys532Ter)
2g.48687947delCA2586969300GTF2A1L,LHCGR,STON1-GTF2A1Lc.1850del (p.Cys617LeufsTer22)
c.*162del (n.*162del)
c.3441+16267del (n.3441+16267del)
c.*594del (n.*594del)
c.1769del (p.Cys590LeufsTer22)
c.276+16267del (n.276+16267del)
c.*220+6277del (n.*220+6277del)
c.893del (p.Cys298LeufsTer22)
c.920del (p.Cys307LeufsTer22)
c.1775del (p.Cys592LeufsTer22)
c.1589del (p.Cys530LeufsTer22)
c.1508del (p.Cys503LeufsTer22)
c.1214del (p.Cys405LeufsTer22)
c.1595del (p.Cys532LeufsTer22)
2g.48687947C>ACA346744189GTF2A1L,LHCGR,STON1-GTF2A1Lc.1850G>T (p.Cys617Phe)
c.*162G>T (n.*162G>T)
c.3441+16267C>A (n.3441+16267C>A)
c.*594G>T (n.*594G>T)
c.1769G>T (p.Cys590Phe)
c.276+16267C>A (n.276+16267C>A)
c.*220+6277G>T (n.*220+6277G>T)
c.893G>T (p.Cys298Phe)
c.920G>T (p.Cys307Phe)
c.1775G>T (p.Cys592Phe)
c.1589G>T (p.Cys530Phe)
c.1508G>T (p.Cys503Phe)
c.1214G>T (p.Cys405Phe)
c.1595G>T (p.Cys532Phe)
2g.48687947C>GCA346744191GTF2A1L,LHCGR,STON1-GTF2A1Lc.1850G>C (p.Cys617Ser)
c.*162G>C (n.*162G>C)
c.3441+16267C>G (n.3441+16267C>G)
c.*594G>C (n.*594G>C)
c.1769G>C (p.Cys590Ser)
c.276+16267C>G (n.276+16267C>G)
c.*220+6277G>C (n.*220+6277G>C)
c.893G>C (p.Cys298Ser)
c.920G>C (p.Cys307Ser)
c.1775G>C (p.Cys592Ser)
c.1589G>C (p.Cys530Ser)
c.1508G>C (p.Cys503Ser)
c.1214G>C (p.Cys405Ser)
c.1595G>C (p.Cys532Ser)
 gnomAD v4
2g.48687947C>TCA346744192GTF2A1L,LHCGR,STON1-GTF2A1Lc.1850G>A (p.Cys617Tyr)
c.*162G>A (n.*162G>A)
c.3441+16267C>T (n.3441+16267C>T)
c.*594G>A (n.*594G>A)
c.1769G>A (p.Cys590Tyr)
c.276+16267C>T (n.276+16267C>T)
c.*220+6277G>A (n.*220+6277G>A)
c.893G>A (p.Cys298Tyr)
c.920G>A (p.Cys307Tyr)
c.1775G>A (p.Cys592Tyr)
c.1589G>A (p.Cys530Tyr)
c.1508G>A (p.Cys503Tyr)
c.1214G>A (p.Cys405Tyr)
c.1595G>A (p.Cys532Tyr)
2g.48687948A>CCA346744195GTF2A1L,LHCGR,STON1-GTF2A1Lc.1849T>G (p.Cys617Gly)
c.*161T>G (n.*161T>G)
c.3441+16268A>C (n.3441+16268A>C)
c.*593T>G (n.*593T>G)
c.1768T>G (p.Cys590Gly)
c.276+16268A>C (n.276+16268A>C)
c.*220+6276T>G (n.*220+6276T>G)
c.892T>G (p.Cys298Gly)
c.919T>G (p.Cys307Gly)
c.1774T>G (p.Cys592Gly)
c.1588T>G (p.Cys530Gly)
c.1507T>G (p.Cys503Gly)
c.1213T>G (p.Cys405Gly)
c.1594T>G (p.Cys532Gly)
2g.48687948A>GCA346744196GTF2A1L,LHCGR,STON1-GTF2A1Lc.1849T>C (p.Cys617Arg)
c.*161T>C (n.*161T>C)
c.3441+16268A>G (n.3441+16268A>G)
c.*593T>C (n.*593T>C)
c.1768T>C (p.Cys590Arg)
c.276+16268A>G (n.276+16268A>G)
c.*220+6276T>C (n.*220+6276T>C)
c.892T>C (p.Cys298Arg)
c.919T>C (p.Cys307Arg)
c.1774T>C (p.Cys592Arg)
c.1588T>C (p.Cys530Arg)
c.1507T>C (p.Cys503Arg)
c.1213T>C (p.Cys405Arg)
c.1594T>C (p.Cys532Arg)
2g.48687948A>TCA346744197GTF2A1L,LHCGR,STON1-GTF2A1Lc.1849T>A (p.Cys617Ser)
c.*161T>A (n.*161T>A)
c.3441+16268A>T (n.3441+16268A>T)
c.*593T>A (n.*593T>A)
c.1768T>A (p.Cys590Ser)
c.276+16268A>T (n.276+16268A>T)
c.*220+6276T>A (n.*220+6276T>A)
c.892T>A (p.Cys298Ser)
c.919T>A (p.Cys307Ser)
c.1774T>A (p.Cys592Ser)
c.1588T>A (p.Cys530Ser)
c.1507T>A (p.Cys503Ser)
c.1213T>A (p.Cys405Ser)
c.1594T>A (p.Cys532Ser)
2g.48687949A>CCA426125524GTF2A1L,LHCGR,STON1-GTF2A1Lc.1848T>G (p.Ser616=)
c.*160T>G (n.*160T>G)
c.3441+16269A>C (n.3441+16269A>C)
c.*592T>G (n.*592T>G)
c.1767T>G (p.Ser589=)
c.276+16269A>C (n.276+16269A>C)
c.*220+6275T>G (n.*220+6275T>G)
c.891T>G (p.Ser297=)
c.918T>G (p.Ser306=)
c.1773T>G (p.Ser591=)
c.1587T>G (p.Ser529=)
c.1506T>G (p.Ser502=)
c.1212T>G (p.Ser404=)
c.1593T>G (p.Ser531=)
2g.48687949A>GCA426125518GTF2A1L,LHCGR,STON1-GTF2A1Lc.1848T>C (p.Ser616=)
c.*160T>C (n.*160T>C)
c.3441+16269A>G (n.3441+16269A>G)
c.*592T>C (n.*592T>C)
c.1767T>C (p.Ser589=)
c.276+16269A>G (n.276+16269A>G)
c.*220+6275T>C (n.*220+6275T>C)
c.891T>C (p.Ser297=)
c.918T>C (p.Ser306=)
c.1773T>C (p.Ser591=)
c.1587T>C (p.Ser529=)
c.1506T>C (p.Ser502=)
c.1212T>C (p.Ser404=)
c.1593T>C (p.Ser531=)
 gnomAD v4
2g.48687949A>TCA426125517GTF2A1L,LHCGR,STON1-GTF2A1Lc.1848T>A (p.Ser616=)
c.*160T>A (n.*160T>A)
c.3441+16269A>T (n.3441+16269A>T)
c.*592T>A (n.*592T>A)
c.1767T>A (p.Ser589=)
c.276+16269A>T (n.276+16269A>T)
c.*220+6275T>A (n.*220+6275T>A)
c.891T>A (p.Ser297=)
c.918T>A (p.Ser306=)
c.1773T>A (p.Ser591=)
c.1587T>A (p.Ser529=)
c.1506T>A (p.Ser502=)
c.1212T>A (p.Ser404=)
c.1593T>A (p.Ser531=)
2g.48687950G>ACA346744203GTF2A1L,LHCGR,STON1-GTF2A1Lc.1847C>T (p.Ser616Phe)
c.*159C>T (n.*159C>T)
c.3441+16270G>A (n.3441+16270G>A)
c.*591C>T (n.*591C>T)
c.1766C>T (p.Ser589Phe)
c.276+16270G>A (n.276+16270G>A)
c.*220+6274C>T (n.*220+6274C>T)
c.890C>T (p.Ser297Phe)
c.917C>T (p.Ser306Phe)
c.1772C>T (p.Ser591Phe)
c.1586C>T (p.Ser529Phe)
c.1505C>T (p.Ser502Phe)
c.1211C>T (p.Ser404Phe)
c.1592C>T (p.Ser531Phe)
 COSMIC
2g.48687950G>CCA346744199GTF2A1L,LHCGR,STON1-GTF2A1Lc.1847C>G (p.Ser616Cys)
c.*159C>G (n.*159C>G)
c.3441+16270G>C (n.3441+16270G>C)
c.*591C>G (n.*591C>G)
c.1766C>G (p.Ser589Cys)
c.276+16270G>C (n.276+16270G>C)
c.*220+6274C>G (n.*220+6274C>G)
c.890C>G (p.Ser297Cys)
c.917C>G (p.Ser306Cys)
c.1772C>G (p.Ser591Cys)
c.1586C>G (p.Ser529Cys)
c.1505C>G (p.Ser502Cys)
c.1211C>G (p.Ser404Cys)
c.1592C>G (p.Ser531Cys)
2g.48687950G=CA1248600915GTF2A1L,LHCGR,STON1-GTF2A1Lc.1847C= (p.Ser616=)
c.*159C= (n.*159C=)
c.3441+16270G= (n.3441+16270G=)
c.*591C= (n.*591C=)
c.1766C= (p.Ser589=)
c.276+16270G= (n.276+16270G=)
c.*220+6274C= (n.*220+6274C=)
c.890C= (p.Ser297=)
c.917C= (p.Ser306=)
c.1772C= (p.Ser591=)
c.1586C= (p.Ser529=)
c.1505C= (p.Ser502=)
c.1211C= (p.Ser404=)
c.1592C= (p.Ser531=)
2g.48687950G>TCA123923GTF2A1L,LHCGR,STON1-GTF2A1Lc.1847C>A (p.Ser616Tyr)
c.*159C>A (n.*159C>A)
c.3441+16270G>T (n.3441+16270G>T)
c.*591C>A (n.*591C>A)
c.1766C>A (p.Ser589Tyr)
c.276+16270G>T (n.276+16270G>T)
c.*220+6274C>A (n.*220+6274C>A)
c.890C>A (p.Ser297Tyr)
c.917C>A (p.Ser306Tyr)
c.1772C>A (p.Ser591Tyr)
c.1586C>A (p.Ser529Tyr)
c.1505C>A (p.Ser502Tyr)
c.1211C>A (p.Ser404Tyr)
c.1592C>A (p.Ser531Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687951A=CA1248600916GTF2A1L,LHCGR,STON1-GTF2A1Lc.1846T= (p.Ser616=)
c.*158T= (n.*158T=)
c.3441+16271A= (n.3441+16271A=)
c.*590T= (n.*590T=)
c.1765T= (p.Ser589=)
c.276+16271A= (n.276+16271A=)
c.*220+6273T= (n.*220+6273T=)
c.889T= (p.Ser297=)
c.916T= (p.Ser306=)
c.1771T= (p.Ser591=)
c.1585T= (p.Ser529=)
c.1504T= (p.Ser502=)
c.1210T= (p.Ser404=)
c.1591T= (p.Ser531=)
2g.48687951A>CCA346744206GTF2A1L,LHCGR,STON1-GTF2A1Lc.1846T>G (p.Ser616Ala)
c.*158T>G (n.*158T>G)
c.3441+16271A>C (n.3441+16271A>C)
c.*590T>G (n.*590T>G)
c.1765T>G (p.Ser589Ala)
c.276+16271A>C (n.276+16271A>C)
c.*220+6273T>G (n.*220+6273T>G)
c.889T>G (p.Ser297Ala)
c.916T>G (p.Ser306Ala)
c.1771T>G (p.Ser591Ala)
c.1585T>G (p.Ser529Ala)
c.1504T>G (p.Ser502Ala)
c.1210T>G (p.Ser404Ala)
c.1591T>G (p.Ser531Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.48687951A>GCA346744208GTF2A1L,LHCGR,STON1-GTF2A1Lc.1846T>C (p.Ser616Pro)
c.*158T>C (n.*158T>C)
c.3441+16271A>G (n.3441+16271A>G)
c.*590T>C (n.*590T>C)
c.1765T>C (p.Ser589Pro)
c.276+16271A>G (n.276+16271A>G)
c.*220+6273T>C (n.*220+6273T>C)
c.889T>C (p.Ser297Pro)
c.916T>C (p.Ser306Pro)
c.1771T>C (p.Ser591Pro)
c.1585T>C (p.Ser529Pro)
c.1504T>C (p.Ser502Pro)
c.1210T>C (p.Ser404Pro)
c.1591T>C (p.Ser531Pro)
 gnomAD v4
2g.48687951A>TCA346744209GTF2A1L,LHCGR,STON1-GTF2A1Lc.1846T>A (p.Ser616Thr)
c.*158T>A (n.*158T>A)
c.3441+16271A>T (n.3441+16271A>T)
c.*590T>A (n.*590T>A)
c.1765T>A (p.Ser589Thr)
c.276+16271A>T (n.276+16271A>T)
c.*220+6273T>A (n.*220+6273T>A)
c.889T>A (p.Ser297Thr)
c.916T>A (p.Ser306Thr)
c.1771T>A (p.Ser591Thr)
c.1585T>A (p.Ser529Thr)
c.1504T>A (p.Ser502Thr)
c.1210T>A (p.Ser404Thr)
c.1591T>A (p.Ser531Thr)
2g.48687952A=CA1248600917GTF2A1L,LHCGR,STON1-GTF2A1Lc.1845T= (p.Asn615=)
c.*157T= (n.*157T=)
c.3441+16272A= (n.3441+16272A=)
c.*589T= (n.*589T=)
c.1764T= (p.Asn588=)
c.276+16272A= (n.276+16272A=)
c.*220+6272T= (n.*220+6272T=)
c.888T= (p.Asn296=)
c.915T= (p.Asn305=)
c.1770T= (p.Asn590=)
c.1584T= (p.Asn528=)
c.1503T= (p.Asn501=)
c.1209T= (p.Asn403=)
c.1590T= (p.Asn530=)
2g.48687952A>CCA346744210GTF2A1L,LHCGR,STON1-GTF2A1Lc.1845T>G (p.Asn615Lys)
c.*157T>G (n.*157T>G)
c.3441+16272A>C (n.3441+16272A>C)
c.*589T>G (n.*589T>G)
c.1764T>G (p.Asn588Lys)
c.276+16272A>C (n.276+16272A>C)
c.*220+6272T>G (n.*220+6272T>G)
c.888T>G (p.Asn296Lys)
c.915T>G (p.Asn305Lys)
c.1770T>G (p.Asn590Lys)
c.1584T>G (p.Asn528Lys)
c.1503T>G (p.Asn501Lys)
c.1209T>G (p.Asn403Lys)
c.1590T>G (p.Asn530Lys)
2g.48687952A>GCA1652977GTF2A1L,LHCGR,STON1-GTF2A1Lc.1845T>C (p.Asn615=)
c.*157T>C (n.*157T>C)
c.3441+16272A>G (n.3441+16272A>G)
c.*589T>C (n.*589T>C)
c.1764T>C (p.Asn588=)
c.276+16272A>G (n.276+16272A>G)
c.*220+6272T>C (n.*220+6272T>C)
c.888T>C (p.Asn296=)
c.915T>C (p.Asn305=)
c.1770T>C (p.Asn590=)
c.1584T>C (p.Asn528=)
c.1503T>C (p.Asn501=)
c.1209T>C (p.Asn403=)
c.1590T>C (p.Asn530=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687952A>TCA346744217GTF2A1L,LHCGR,STON1-GTF2A1Lc.1845T>A (p.Asn615Lys)
c.*157T>A (n.*157T>A)
c.3441+16272A>T (n.3441+16272A>T)
c.*589T>A (n.*589T>A)
c.1764T>A (p.Asn588Lys)
c.276+16272A>T (n.276+16272A>T)
c.*220+6272T>A (n.*220+6272T>A)
c.888T>A (p.Asn296Lys)
c.915T>A (p.Asn305Lys)
c.1770T>A (p.Asn590Lys)
c.1584T>A (p.Asn528Lys)
c.1503T>A (p.Asn501Lys)
c.1209T>A (p.Asn403Lys)
c.1590T>A (p.Asn530Lys)
 COSMIC
2g.48687952_48687953dupCA532706162GTF2A1L,LHCGR,STON1-GTF2A1Lc.1844_1845dup (p.Ser616IlefsTer24)
c.*156_*157dup (n.*156_*157dup)
c.3441+16272_3441+16273dup (n.3441+16272_3441+16273dup)
c.*588_*589dup (n.*588_*589dup)
c.1763_1764dup (p.Ser589IlefsTer24)
c.276+16272_276+16273dup (n.276+16272_276+16273dup)
c.*220+6271_*220+6272dup (n.*220+6271_*220+6272dup)
c.887_888dup (p.Ser297IlefsTer24)
c.914_915dup (p.Ser306IlefsTer24)
c.1769_1770dup (p.Ser591IlefsTer24)
c.1583_1584dup (p.Ser529IlefsTer24)
c.1502_1503dup (p.Ser502IlefsTer24)
c.1208_1209dup (p.Ser404IlefsTer24)
c.1589_1590dup (p.Ser531IlefsTer24)
 gnomAD v2 gnomAD v4
2g.48687953T>ACA346744229GTF2A1L,LHCGR,STON1-GTF2A1Lc.1844A>T (p.Asn615Ile)
c.*156A>T (n.*156A>T)
c.3441+16273T>A (n.3441+16273T>A)
c.*588A>T (n.*588A>T)
c.1763A>T (p.Asn588Ile)
c.276+16273T>A (n.276+16273T>A)
c.*220+6271A>T (n.*220+6271A>T)
c.887A>T (p.Asn296Ile)
c.914A>T (p.Asn305Ile)
c.1769A>T (p.Asn590Ile)
c.1583A>T (p.Asn528Ile)
c.1502A>T (p.Asn501Ile)
c.1208A>T (p.Asn403Ile)
c.1589A>T (p.Asn530Ile)
2g.48687953T>CCA346744233GTF2A1L,LHCGR,STON1-GTF2A1Lc.1844A>G (p.Asn615Ser)
c.*156A>G (n.*156A>G)
c.3441+16273T>C (n.3441+16273T>C)
c.*588A>G (n.*588A>G)
c.1763A>G (p.Asn588Ser)
c.276+16273T>C (n.276+16273T>C)
c.*220+6271A>G (n.*220+6271A>G)
c.887A>G (p.Asn296Ser)
c.914A>G (p.Asn305Ser)
c.1769A>G (p.Asn590Ser)
c.1583A>G (p.Asn528Ser)
c.1502A>G (p.Asn501Ser)
c.1208A>G (p.Asn403Ser)
c.1589A>G (p.Asn530Ser)
2g.48687953T>GCA346744235GTF2A1L,LHCGR,STON1-GTF2A1Lc.1844A>C (p.Asn615Thr)
c.*156A>C (n.*156A>C)
c.3441+16273T>G (n.3441+16273T>G)
c.*588A>C (n.*588A>C)
c.1763A>C (p.Asn588Thr)
c.276+16273T>G (n.276+16273T>G)
c.*220+6271A>C (n.*220+6271A>C)
c.887A>C (p.Asn296Thr)
c.914A>C (p.Asn305Thr)
c.1769A>C (p.Asn590Thr)
c.1583A>C (p.Asn528Thr)
c.1502A>C (p.Asn501Thr)
c.1208A>C (p.Asn403Thr)
c.1589A>C (p.Asn530Thr)
 gnomAD v4
2g.48687954T>ACA346744237GTF2A1L,LHCGR,STON1-GTF2A1Lc.1843A>T (p.Asn615Tyr)
c.*155A>T (n.*155A>T)
c.3441+16274T>A (n.3441+16274T>A)
c.*587A>T (n.*587A>T)
c.1762A>T (p.Asn588Tyr)
c.276+16274T>A (n.276+16274T>A)
c.*220+6270A>T (n.*220+6270A>T)
c.886A>T (p.Asn296Tyr)
c.913A>T (p.Asn305Tyr)
c.1768A>T (p.Asn590Tyr)
c.1582A>T (p.Asn528Tyr)
c.1501A>T (p.Asn501Tyr)
c.1207A>T (p.Asn403Tyr)
c.1588A>T (p.Asn530Tyr)
2g.48687954T>CCA346744238GTF2A1L,LHCGR,STON1-GTF2A1Lc.1843A>G (p.Asn615Asp)
c.*155A>G (n.*155A>G)
c.3441+16274T>C (n.3441+16274T>C)
c.*587A>G (n.*587A>G)
c.1762A>G (p.Asn588Asp)
c.276+16274T>C (n.276+16274T>C)
c.*220+6270A>G (n.*220+6270A>G)
c.886A>G (p.Asn296Asp)
c.913A>G (p.Asn305Asp)
c.1768A>G (p.Asn590Asp)
c.1582A>G (p.Asn528Asp)
c.1501A>G (p.Asn501Asp)
c.1207A>G (p.Asn403Asp)
c.1588A>G (p.Asn530Asp)
2g.48687954T>GCA346744239GTF2A1L,LHCGR,STON1-GTF2A1Lc.1843A>C (p.Asn615His)
c.*155A>C (n.*155A>C)
c.3441+16274T>G (n.3441+16274T>G)
c.*587A>C (n.*587A>C)
c.1762A>C (p.Asn588His)
c.276+16274T>G (n.276+16274T>G)
c.*220+6270A>C (n.*220+6270A>C)
c.886A>C (p.Asn296His)
c.913A>C (p.Asn305His)
c.1768A>C (p.Asn590His)
c.1582A>C (p.Asn528His)
c.1501A>C (p.Asn501His)
c.1207A>C (p.Asn403His)
c.1588A>C (p.Asn530His)
2g.48687955G>ACA426125546GTF2A1L,LHCGR,STON1-GTF2A1Lc.1842C>T (p.Ile614=)
c.*154C>T (n.*154C>T)
c.3441+16275G>A (n.3441+16275G>A)
c.*586C>T (n.*586C>T)
c.1761C>T (p.Ile587=)
c.276+16275G>A (n.276+16275G>A)
c.*220+6269C>T (n.*220+6269C>T)
c.885C>T (p.Ile295=)
c.912C>T (p.Ile304=)
c.1767C>T (p.Ile589=)
c.1581C>T (p.Ile527=)
c.1500C>T (p.Ile500=)
c.1206C>T (p.Ile402=)
c.1587C>T (p.Ile529=)
2g.48687955G>CCA346744240GTF2A1L,LHCGR,STON1-GTF2A1Lc.1842C>G (p.Ile614Met)
c.*154C>G (n.*154C>G)
c.3441+16275G>C (n.3441+16275G>C)
c.*586C>G (n.*586C>G)
c.1761C>G (p.Ile587Met)
c.276+16275G>C (n.276+16275G>C)
c.*220+6269C>G (n.*220+6269C>G)
c.885C>G (p.Ile295Met)
c.912C>G (p.Ile304Met)
c.1767C>G (p.Ile589Met)
c.1581C>G (p.Ile527Met)
c.1500C>G (p.Ile500Met)
c.1206C>G (p.Ile402Met)
c.1587C>G (p.Ile529Met)
2g.48687955G>TCA426125549GTF2A1L,LHCGR,STON1-GTF2A1Lc.1842C>A (p.Ile614=)
c.*154C>A (n.*154C>A)
c.3441+16275G>T (n.3441+16275G>T)
c.*586C>A (n.*586C>A)
c.1761C>A (p.Ile587=)
c.276+16275G>T (n.276+16275G>T)
c.*220+6269C>A (n.*220+6269C>A)
c.885C>A (p.Ile295=)
c.912C>A (p.Ile304=)
c.1767C>A (p.Ile589=)
c.1581C>A (p.Ile527=)
c.1500C>A (p.Ile500=)
c.1206C>A (p.Ile402=)
c.1587C>A (p.Ile529=)
2g.48687956A=CA1248600918GTF2A1L,LHCGR,STON1-GTF2A1Lc.1841T= (p.Ile614=)
c.*153T= (n.*153T=)
c.3441+16276A= (n.3441+16276A=)
c.*585T= (n.*585T=)
c.1760T= (p.Ile587=)
c.276+16276A= (n.276+16276A=)
c.*220+6268T= (n.*220+6268T=)
c.884T= (p.Ile295=)
c.911T= (p.Ile304=)
c.1766T= (p.Ile589=)
c.1580T= (p.Ile527=)
c.1499T= (p.Ile500=)
c.1205T= (p.Ile402=)
c.1586T= (p.Ile529=)
2g.48687956A>CCA1652979GTF2A1L,LHCGR,STON1-GTF2A1Lc.1841T>G (p.Ile614Ser)
c.*153T>G (n.*153T>G)
c.3441+16276A>C (n.3441+16276A>C)
c.*585T>G (n.*585T>G)
c.1760T>G (p.Ile587Ser)
c.276+16276A>C (n.276+16276A>C)
c.*220+6268T>G (n.*220+6268T>G)
c.884T>G (p.Ile295Ser)
c.911T>G (p.Ile304Ser)
c.1766T>G (p.Ile589Ser)
c.1580T>G (p.Ile527Ser)
c.1499T>G (p.Ile500Ser)
c.1205T>G (p.Ile402Ser)
c.1586T>G (p.Ile529Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687956A>GCA346744242GTF2A1L,LHCGR,STON1-GTF2A1Lc.1841T>C (p.Ile614Thr)
c.*153T>C (n.*153T>C)
c.3441+16276A>G (n.3441+16276A>G)
c.*585T>C (n.*585T>C)
c.1760T>C (p.Ile587Thr)
c.276+16276A>G (n.276+16276A>G)
c.*220+6268T>C (n.*220+6268T>C)
c.884T>C (p.Ile295Thr)
c.911T>C (p.Ile304Thr)
c.1766T>C (p.Ile589Thr)
c.1580T>C (p.Ile527Thr)
c.1499T>C (p.Ile500Thr)
c.1205T>C (p.Ile402Thr)
c.1586T>C (p.Ile529Thr)
2g.48687956A>TCA1652978GTF2A1L,LHCGR,STON1-GTF2A1Lc.1841T>A (p.Ile614Asn)
c.*153T>A (n.*153T>A)
c.3441+16276A>T (n.3441+16276A>T)
c.*585T>A (n.*585T>A)
c.1760T>A (p.Ile587Asn)
c.276+16276A>T (n.276+16276A>T)
c.*220+6268T>A (n.*220+6268T>A)
c.884T>A (p.Ile295Asn)
c.911T>A (p.Ile304Asn)
c.1766T>A (p.Ile589Asn)
c.1580T>A (p.Ile527Asn)
c.1499T>A (p.Ile500Asn)
c.1205T>A (p.Ile402Asn)
c.1586T>A (p.Ile529Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687957T>ACA346744259GTF2A1L,LHCGR,STON1-GTF2A1Lc.1840A>T (p.Ile614Phe)
c.*152A>T (n.*152A>T)
c.3441+16277T>A (n.3441+16277T>A)
c.*584A>T (n.*584A>T)
c.1759A>T (p.Ile587Phe)
c.276+16277T>A (n.276+16277T>A)
c.*220+6267A>T (n.*220+6267A>T)
c.883A>T (p.Ile295Phe)
c.910A>T (p.Ile304Phe)
c.1765A>T (p.Ile589Phe)
c.1579A>T (p.Ile527Phe)
c.1498A>T (p.Ile500Phe)
c.1204A>T (p.Ile402Phe)
c.1585A>T (p.Ile529Phe)
2g.48687957T>CCA346744260GTF2A1L,LHCGR,STON1-GTF2A1Lc.1840A>G (p.Ile614Val)
c.*152A>G (n.*152A>G)
c.3441+16277T>C (n.3441+16277T>C)
c.*584A>G (n.*584A>G)
c.1759A>G (p.Ile587Val)
c.276+16277T>C (n.276+16277T>C)
c.*220+6267A>G (n.*220+6267A>G)
c.883A>G (p.Ile295Val)
c.910A>G (p.Ile304Val)
c.1765A>G (p.Ile589Val)
c.1579A>G (p.Ile527Val)
c.1498A>G (p.Ile500Val)
c.1204A>G (p.Ile402Val)
c.1585A>G (p.Ile529Val)
2g.48687957T>GCA346744264GTF2A1L,LHCGR,STON1-GTF2A1Lc.1840A>C (p.Ile614Leu)
c.*152A>C (n.*152A>C)
c.3441+16277T>G (n.3441+16277T>G)
c.*584A>C (n.*584A>C)
c.1759A>C (p.Ile587Leu)
c.276+16277T>G (n.276+16277T>G)
c.*220+6267A>C (n.*220+6267A>C)
c.883A>C (p.Ile295Leu)
c.910A>C (p.Ile304Leu)
c.1765A>C (p.Ile589Leu)
c.1579A>C (p.Ile527Leu)
c.1498A>C (p.Ile500Leu)
c.1204A>C (p.Ile402Leu)
c.1585A>C (p.Ile529Leu)
2g.48687958G>ACA426125559GTF2A1L,LHCGR,STON1-GTF2A1Lc.1839C>T (p.Pro613=)
c.*151C>T (n.*151C>T)
c.3441+16278G>A (n.3441+16278G>A)
c.*583C>T (n.*583C>T)
c.1758C>T (p.Pro586=)
c.276+16278G>A (n.276+16278G>A)
c.*220+6266C>T (n.*220+6266C>T)
c.882C>T (p.Pro294=)
c.909C>T (p.Pro303=)
c.1764C>T (p.Pro588=)
c.1578C>T (p.Pro526=)
c.1497C>T (p.Pro499=)
c.1203C>T (p.Pro401=)
c.1584C>T (p.Pro528=)
 dbSNP gnomAD v3 gnomAD v4
2g.48687958G>CCA426125560GTF2A1L,LHCGR,STON1-GTF2A1Lc.1839C>G (p.Pro613=)
c.*151C>G (n.*151C>G)
c.3441+16278G>C (n.3441+16278G>C)
c.*583C>G (n.*583C>G)
c.1758C>G (p.Pro586=)
c.276+16278G>C (n.276+16278G>C)
c.*220+6266C>G (n.*220+6266C>G)
c.882C>G (p.Pro294=)
c.909C>G (p.Pro303=)
c.1764C>G (p.Pro588=)
c.1578C>G (p.Pro526=)
c.1497C>G (p.Pro499=)
c.1203C>G (p.Pro401=)
c.1584C>G (p.Pro528=)
2g.48687958G=CA1248600919GTF2A1L,LHCGR,STON1-GTF2A1Lc.1839C= (p.Pro613=)
c.*151C= (n.*151C=)
c.3441+16278G= (n.3441+16278G=)
c.*583C= (n.*583C=)
c.1758C= (p.Pro586=)
c.276+16278G= (n.276+16278G=)
c.*220+6266C= (n.*220+6266C=)
c.882C= (p.Pro294=)
c.909C= (p.Pro303=)
c.1764C= (p.Pro588=)
c.1578C= (p.Pro526=)
c.1497C= (p.Pro499=)
c.1203C= (p.Pro401=)
c.1584C= (p.Pro528=)
2g.48687958G>TCA426125562GTF2A1L,LHCGR,STON1-GTF2A1Lc.1839C>A (p.Pro613=)
c.*151C>A (n.*151C>A)
c.3441+16278G>T (n.3441+16278G>T)
c.*583C>A (n.*583C>A)
c.1758C>A (p.Pro586=)
c.276+16278G>T (n.276+16278G>T)
c.*220+6266C>A (n.*220+6266C>A)
c.882C>A (p.Pro294=)
c.909C>A (p.Pro303=)
c.1764C>A (p.Pro588=)
c.1578C>A (p.Pro526=)
c.1497C>A (p.Pro499=)
c.1203C>A (p.Pro401=)
c.1584C>A (p.Pro528=)
 dbSNP gnomAD v4
2g.48687959G>ACA346744267GTF2A1L,LHCGR,STON1-GTF2A1Lc.1838C>T (p.Pro613Leu)
c.*150C>T (n.*150C>T)
c.3441+16279G>A (n.3441+16279G>A)
c.*582C>T (n.*582C>T)
c.1757C>T (p.Pro586Leu)
c.276+16279G>A (n.276+16279G>A)
c.*220+6265C>T (n.*220+6265C>T)
c.881C>T (p.Pro294Leu)
c.908C>T (p.Pro303Leu)
c.1763C>T (p.Pro588Leu)
c.1577C>T (p.Pro526Leu)
c.1496C>T (p.Pro499Leu)
c.1202C>T (p.Pro401Leu)
c.1583C>T (p.Pro528Leu)
2g.48687959G>CCA1652980GTF2A1L,LHCGR,STON1-GTF2A1Lc.1838C>G (p.Pro613Arg)
c.*150C>G (n.*150C>G)
c.3441+16279G>C (n.3441+16279G>C)
c.*582C>G (n.*582C>G)
c.1757C>G (p.Pro586Arg)
c.276+16279G>C (n.276+16279G>C)
c.*220+6265C>G (n.*220+6265C>G)
c.881C>G (p.Pro294Arg)
c.908C>G (p.Pro303Arg)
c.1763C>G (p.Pro588Arg)
c.1577C>G (p.Pro526Arg)
c.1496C>G (p.Pro499Arg)
c.1202C>G (p.Pro401Arg)
c.1583C>G (p.Pro528Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687959G=CA1248600920GTF2A1L,LHCGR,STON1-GTF2A1Lc.1838C= (p.Pro613=)
c.*150C= (n.*150C=)
c.3441+16279G= (n.3441+16279G=)
c.*582C= (n.*582C=)
c.1757C= (p.Pro586=)
c.276+16279G= (n.276+16279G=)
c.*220+6265C= (n.*220+6265C=)
c.881C= (p.Pro294=)
c.908C= (p.Pro303=)
c.1763C= (p.Pro588=)
c.1577C= (p.Pro526=)
c.1496C= (p.Pro499=)
c.1202C= (p.Pro401=)
c.1583C= (p.Pro528=)
2g.48687959G>TCA346744271GTF2A1L,LHCGR,STON1-GTF2A1Lc.1838C>A (p.Pro613His)
c.*150C>A (n.*150C>A)
c.3441+16279G>T (n.3441+16279G>T)
c.*582C>A (n.*582C>A)
c.1757C>A (p.Pro586His)
c.276+16279G>T (n.276+16279G>T)
c.*220+6265C>A (n.*220+6265C>A)
c.881C>A (p.Pro294His)
c.908C>A (p.Pro303His)
c.1763C>A (p.Pro588His)
c.1577C>A (p.Pro526His)
c.1496C>A (p.Pro499His)
c.1202C>A (p.Pro401His)
c.1583C>A (p.Pro528His)
2g.48687960G>ACA346744274GTF2A1L,LHCGR,STON1-GTF2A1Lc.1837C>T (p.Pro613Ser)
c.*149C>T (n.*149C>T)
c.3441+16280G>A (n.3441+16280G>A)
c.*581C>T (n.*581C>T)
c.1756C>T (p.Pro586Ser)
c.276+16280G>A (n.276+16280G>A)
c.*220+6264C>T (n.*220+6264C>T)
c.880C>T (p.Pro294Ser)
c.907C>T (p.Pro303Ser)
c.1762C>T (p.Pro588Ser)
c.1576C>T (p.Pro526Ser)
c.1495C>T (p.Pro499Ser)
c.1201C>T (p.Pro401Ser)
c.1582C>T (p.Pro528Ser)
 COSMIC
2g.48687960G>CCA346744276GTF2A1L,LHCGR,STON1-GTF2A1Lc.1837C>G (p.Pro613Ala)
c.*149C>G (n.*149C>G)
c.3441+16280G>C (n.3441+16280G>C)
c.*581C>G (n.*581C>G)
c.1756C>G (p.Pro586Ala)
c.276+16280G>C (n.276+16280G>C)
c.*220+6264C>G (n.*220+6264C>G)
c.880C>G (p.Pro294Ala)
c.907C>G (p.Pro303Ala)
c.1762C>G (p.Pro588Ala)
c.1576C>G (p.Pro526Ala)
c.1495C>G (p.Pro499Ala)
c.1201C>G (p.Pro401Ala)
c.1582C>G (p.Pro528Ala)
2g.48687960G>TCA346744279GTF2A1L,LHCGR,STON1-GTF2A1Lc.1837C>A (p.Pro613Thr)
c.*149C>A (n.*149C>A)
c.3441+16280G>T (n.3441+16280G>T)
c.*581C>A (n.*581C>A)
c.1756C>A (p.Pro586Thr)
c.276+16280G>T (n.276+16280G>T)
c.*220+6264C>A (n.*220+6264C>A)
c.880C>A (p.Pro294Thr)
c.907C>A (p.Pro303Thr)
c.1762C>A (p.Pro588Thr)
c.1576C>A (p.Pro526Thr)
c.1495C>A (p.Pro499Thr)
c.1201C>A (p.Pro401Thr)
c.1582C>A (p.Pro528Thr)
2g.48687961A>CCA346744284GTF2A1L,LHCGR,STON1-GTF2A1Lc.1836T>G (p.Tyr612Ter)
c.*148T>G (n.*148T>G)
c.3441+16281A>C (n.3441+16281A>C)
c.*580T>G (n.*580T>G)
c.1755T>G (p.Tyr585Ter)
c.276+16281A>C (n.276+16281A>C)
c.*220+6263T>G (n.*220+6263T>G)
c.879T>G (p.Tyr293Ter)
c.906T>G (p.Tyr302Ter)
c.1761T>G (p.Tyr587Ter)
c.1575T>G (p.Tyr525Ter)
c.1494T>G (p.Tyr498Ter)
c.1200T>G (p.Tyr400Ter)
c.1581T>G (p.Tyr527Ter)
2g.48687961A>GCA426125577GTF2A1L,LHCGR,STON1-GTF2A1Lc.1836T>C (p.Tyr612=)
c.*148T>C (n.*148T>C)
c.3441+16281A>G (n.3441+16281A>G)
c.*580T>C (n.*580T>C)
c.1755T>C (p.Tyr585=)
c.276+16281A>G (n.276+16281A>G)
c.*220+6263T>C (n.*220+6263T>C)
c.879T>C (p.Tyr293=)
c.906T>C (p.Tyr302=)
c.1761T>C (p.Tyr587=)
c.1575T>C (p.Tyr525=)
c.1494T>C (p.Tyr498=)
c.1200T>C (p.Tyr400=)
c.1581T>C (p.Tyr527=)
2g.48687961A>TCA346744287GTF2A1L,LHCGR,STON1-GTF2A1Lc.1836T>A (p.Tyr612Ter)
c.*148T>A (n.*148T>A)
c.3441+16281A>T (n.3441+16281A>T)
c.*580T>A (n.*580T>A)
c.1755T>A (p.Tyr585Ter)
c.276+16281A>T (n.276+16281A>T)
c.*220+6263T>A (n.*220+6263T>A)
c.879T>A (p.Tyr293Ter)
c.906T>A (p.Tyr302Ter)
c.1761T>A (p.Tyr587Ter)
c.1575T>A (p.Tyr525Ter)
c.1494T>A (p.Tyr498Ter)
c.1200T>A (p.Tyr400Ter)
c.1581T>A (p.Tyr527Ter)
2g.48687962T>ACA346744290GTF2A1L,LHCGR,STON1-GTF2A1Lc.1835A>T (p.Tyr612Phe)
c.*147A>T (n.*147A>T)
c.3441+16282T>A (n.3441+16282T>A)
c.*579A>T (n.*579A>T)
c.1754A>T (p.Tyr585Phe)
c.276+16282T>A (n.276+16282T>A)
c.*220+6262A>T (n.*220+6262A>T)
c.878A>T (p.Tyr293Phe)
c.905A>T (p.Tyr302Phe)
c.1760A>T (p.Tyr587Phe)
c.1574A>T (p.Tyr525Phe)
c.1493A>T (p.Tyr498Phe)
c.1199A>T (p.Tyr400Phe)
c.1580A>T (p.Tyr527Phe)
2g.48687962T>CCA346744288GTF2A1L,LHCGR,STON1-GTF2A1Lc.1835A>G (p.Tyr612Cys)
c.*147A>G (n.*147A>G)
c.3441+16282T>C (n.3441+16282T>C)
c.*579A>G (n.*579A>G)
c.1754A>G (p.Tyr585Cys)
c.276+16282T>C (n.276+16282T>C)
c.*220+6262A>G (n.*220+6262A>G)
c.878A>G (p.Tyr293Cys)
c.905A>G (p.Tyr302Cys)
c.1760A>G (p.Tyr587Cys)
c.1574A>G (p.Tyr525Cys)
c.1493A>G (p.Tyr498Cys)
c.1199A>G (p.Tyr400Cys)
c.1580A>G (p.Tyr527Cys)
 dbSNP
2g.48687962T>GCA346744289GTF2A1L,LHCGR,STON1-GTF2A1Lc.1835A>C (p.Tyr612Ser)
c.*147A>C (n.*147A>C)
c.3441+16282T>G (n.3441+16282T>G)
c.*579A>C (n.*579A>C)
c.1754A>C (p.Tyr585Ser)
c.276+16282T>G (n.276+16282T>G)
c.*220+6262A>C (n.*220+6262A>C)
c.878A>C (p.Tyr293Ser)
c.905A>C (p.Tyr302Ser)
c.1760A>C (p.Tyr587Ser)
c.1574A>C (p.Tyr525Ser)
c.1493A>C (p.Tyr498Ser)
c.1199A>C (p.Tyr400Ser)
c.1580A>C (p.Tyr527Ser)
2g.48687962T=CA1248600921GTF2A1L,LHCGR,STON1-GTF2A1Lc.1835A= (p.Tyr612=)
c.*147A= (n.*147A=)
c.3441+16282T= (n.3441+16282T=)
c.*579A= (n.*579A=)
c.1754A= (p.Tyr585=)
c.276+16282T= (n.276+16282T=)
c.*220+6262A= (n.*220+6262A=)
c.878A= (p.Tyr293=)
c.905A= (p.Tyr302=)
c.1760A= (p.Tyr587=)
c.1574A= (p.Tyr525=)
c.1493A= (p.Tyr498=)
c.1199A= (p.Tyr400=)
c.1580A= (p.Tyr527=)
2g.48687963A=CA1248600922GTF2A1L,LHCGR,STON1-GTF2A1Lc.1834T= (p.Tyr612=)
c.*146T= (n.*146T=)
c.3441+16283A= (n.3441+16283A=)
c.*578T= (n.*578T=)
c.1753T= (p.Tyr585=)
c.276+16283A= (n.276+16283A=)
c.*220+6261T= (n.*220+6261T=)
c.877T= (p.Tyr293=)
c.904T= (p.Tyr302=)
c.1759T= (p.Tyr587=)
c.1573T= (p.Tyr525=)
c.1492T= (p.Tyr498=)
c.1198T= (p.Tyr400=)
c.1579T= (p.Tyr527=)
2g.48687963A>CCA346744291GTF2A1L,LHCGR,STON1-GTF2A1Lc.1834T>G (p.Tyr612Asp)
c.*146T>G (n.*146T>G)
c.3441+16283A>C (n.3441+16283A>C)
c.*578T>G (n.*578T>G)
c.1753T>G (p.Tyr585Asp)
c.276+16283A>C (n.276+16283A>C)
c.*220+6261T>G (n.*220+6261T>G)
c.877T>G (p.Tyr293Asp)
c.904T>G (p.Tyr302Asp)
c.1759T>G (p.Tyr587Asp)
c.1573T>G (p.Tyr525Asp)
c.1492T>G (p.Tyr498Asp)
c.1198T>G (p.Tyr400Asp)
c.1579T>G (p.Tyr527Asp)
2g.48687963A>GCA346744294GTF2A1L,LHCGR,STON1-GTF2A1Lc.1834T>C (p.Tyr612His)
c.*146T>C (n.*146T>C)
c.3441+16283A>G (n.3441+16283A>G)
c.*578T>C (n.*578T>C)
c.1753T>C (p.Tyr585His)
c.276+16283A>G (n.276+16283A>G)
c.*220+6261T>C (n.*220+6261T>C)
c.877T>C (p.Tyr293His)
c.904T>C (p.Tyr302His)
c.1759T>C (p.Tyr587His)
c.1573T>C (p.Tyr525His)
c.1492T>C (p.Tyr498His)
c.1198T>C (p.Tyr400His)
c.1579T>C (p.Tyr527His)
 dbSNP gnomAD v3 gnomAD v4
2g.48687963A>TCA346744295GTF2A1L,LHCGR,STON1-GTF2A1Lc.1834T>A (p.Tyr612Asn)
c.*146T>A (n.*146T>A)
c.3441+16283A>T (n.3441+16283A>T)
c.*578T>A (n.*578T>A)
c.1753T>A (p.Tyr585Asn)
c.276+16283A>T (n.276+16283A>T)
c.*220+6261T>A (n.*220+6261T>A)
c.877T>A (p.Tyr293Asn)
c.904T>A (p.Tyr302Asn)
c.1759T>A (p.Tyr587Asn)
c.1573T>A (p.Tyr525Asn)
c.1492T>A (p.Tyr498Asn)
c.1198T>A (p.Tyr400Asn)
c.1579T>A (p.Tyr527Asn)
2g.48687968dupCA2658992079GTF2A1L,LHCGR,STON1-GTF2A1Lc.1834dup (p.Tyr612LeufsTer17)
c.*146dup (n.*146dup)
c.3441+16288dup (n.3441+16288dup)
c.*578dup (n.*578dup)
c.1753dup (p.Tyr585LeufsTer17)
c.276+16288dup (n.276+16288dup)
c.*220+6261dup (n.*220+6261dup)
c.877dup (p.Tyr293LeufsTer17)
c.904dup (p.Tyr302LeufsTer17)
c.1759dup (p.Tyr587LeufsTer17)
c.1573dup (p.Tyr525LeufsTer17)
c.1492dup (p.Tyr498LeufsTer17)
c.1198dup (p.Tyr400LeufsTer17)
c.1579dup (p.Tyr527LeufsTer17)
 gnomAD v4
2g.48687964A>CCA346744296GTF2A1L,LHCGR,STON1-GTF2A1Lc.1833T>G (p.Phe611Leu)
c.*145T>G (n.*145T>G)
c.3441+16284A>C (n.3441+16284A>C)
c.*577T>G (n.*577T>G)
c.1752T>G (p.Phe584Leu)
c.276+16284A>C (n.276+16284A>C)
c.*220+6260T>G (n.*220+6260T>G)
c.876T>G (p.Phe292Leu)
c.903T>G (p.Phe301Leu)
c.1758T>G (p.Phe586Leu)
c.1572T>G (p.Phe524Leu)
c.1491T>G (p.Phe497Leu)
c.1197T>G (p.Phe399Leu)
c.1578T>G (p.Phe526Leu)
2g.48687964A>GCA426125593GTF2A1L,LHCGR,STON1-GTF2A1Lc.1833T>C (p.Phe611=)
c.*145T>C (n.*145T>C)
c.3441+16284A>G (n.3441+16284A>G)
c.*577T>C (n.*577T>C)
c.1752T>C (p.Phe584=)
c.276+16284A>G (n.276+16284A>G)
c.*220+6260T>C (n.*220+6260T>C)
c.876T>C (p.Phe292=)
c.903T>C (p.Phe301=)
c.1758T>C (p.Phe586=)
c.1572T>C (p.Phe524=)
c.1491T>C (p.Phe497=)
c.1197T>C (p.Phe399=)
c.1578T>C (p.Phe526=)
2g.48687964A>TCA346744297GTF2A1L,LHCGR,STON1-GTF2A1Lc.1833T>A (p.Phe611Leu)
c.*145T>A (n.*145T>A)
c.3441+16284A>T (n.3441+16284A>T)
c.*577T>A (n.*577T>A)
c.1752T>A (p.Phe584Leu)
c.276+16284A>T (n.276+16284A>T)
c.*220+6260T>A (n.*220+6260T>A)
c.876T>A (p.Phe292Leu)
c.903T>A (p.Phe301Leu)
c.1758T>A (p.Phe586Leu)
c.1572T>A (p.Phe524Leu)
c.1491T>A (p.Phe497Leu)
c.1197T>A (p.Phe399Leu)
c.1578T>A (p.Phe526Leu)
2g.48687965A>CCA346744298GTF2A1L,LHCGR,STON1-GTF2A1Lc.1832T>G (p.Phe611Cys)
c.*144T>G (n.*144T>G)
c.3441+16285A>C (n.3441+16285A>C)
c.*576T>G (n.*576T>G)
c.1751T>G (p.Phe584Cys)
c.276+16285A>C (n.276+16285A>C)
c.*220+6259T>G (n.*220+6259T>G)
c.875T>G (p.Phe292Cys)
c.902T>G (p.Phe301Cys)
c.1757T>G (p.Phe586Cys)
c.1571T>G (p.Phe524Cys)
c.1490T>G (p.Phe497Cys)
c.1196T>G (p.Phe399Cys)
c.1577T>G (p.Phe526Cys)
2g.48687965A>GCA346744299GTF2A1L,LHCGR,STON1-GTF2A1Lc.1832T>C (p.Phe611Ser)
c.*144T>C (n.*144T>C)
c.3441+16285A>G (n.3441+16285A>G)
c.*576T>C (n.*576T>C)
c.1751T>C (p.Phe584Ser)
c.276+16285A>G (n.276+16285A>G)
c.*220+6259T>C (n.*220+6259T>C)
c.875T>C (p.Phe292Ser)
c.902T>C (p.Phe301Ser)
c.1757T>C (p.Phe586Ser)
c.1571T>C (p.Phe524Ser)
c.1490T>C (p.Phe497Ser)
c.1196T>C (p.Phe399Ser)
c.1577T>C (p.Phe526Ser)
2g.48687965A>TCA346744300GTF2A1L,LHCGR,STON1-GTF2A1Lc.1832T>A (p.Phe611Tyr)
c.*144T>A (n.*144T>A)
c.3441+16285A>T (n.3441+16285A>T)
c.*576T>A (n.*576T>A)
c.1751T>A (p.Phe584Tyr)
c.276+16285A>T (n.276+16285A>T)
c.*220+6259T>A (n.*220+6259T>A)
c.875T>A (p.Phe292Tyr)
c.902T>A (p.Phe301Tyr)
c.1757T>A (p.Phe586Tyr)
c.1571T>A (p.Phe524Tyr)
c.1490T>A (p.Phe497Tyr)
c.1196T>A (p.Phe399Tyr)
c.1577T>A (p.Phe526Tyr)
2g.48687966A=CA1248600923GTF2A1L,LHCGR,STON1-GTF2A1Lc.1831T= (p.Phe611=)
c.*143T= (n.*143T=)
c.3441+16286A= (n.3441+16286A=)
c.*575T= (n.*575T=)
c.1750T= (p.Phe584=)
c.276+16286A= (n.276+16286A=)
c.*220+6258T= (n.*220+6258T=)
c.874T= (p.Phe292=)
c.901T= (p.Phe301=)
c.1756T= (p.Phe586=)
c.1570T= (p.Phe524=)
c.1489T= (p.Phe497=)
c.1195T= (p.Phe399=)
c.1576T= (p.Phe526=)
2g.48687966A>CCA1652981GTF2A1L,LHCGR,STON1-GTF2A1Lc.1831T>G (p.Phe611Val)
c.*143T>G (n.*143T>G)
c.3441+16286A>C (n.3441+16286A>C)
c.*575T>G (n.*575T>G)
c.1750T>G (p.Phe584Val)
c.276+16286A>C (n.276+16286A>C)
c.*220+6258T>G (n.*220+6258T>G)
c.874T>G (p.Phe292Val)
c.901T>G (p.Phe301Val)
c.1756T>G (p.Phe586Val)
c.1570T>G (p.Phe524Val)
c.1489T>G (p.Phe497Val)
c.1195T>G (p.Phe399Val)
c.1576T>G (p.Phe526Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687966A>GCA346744301GTF2A1L,LHCGR,STON1-GTF2A1Lc.1831T>C (p.Phe611Leu)
c.*143T>C (n.*143T>C)
c.3441+16286A>G (n.3441+16286A>G)
c.*575T>C (n.*575T>C)
c.1750T>C (p.Phe584Leu)
c.276+16286A>G (n.276+16286A>G)
c.*220+6258T>C (n.*220+6258T>C)
c.874T>C (p.Phe292Leu)
c.901T>C (p.Phe301Leu)
c.1756T>C (p.Phe586Leu)
c.1570T>C (p.Phe524Leu)
c.1489T>C (p.Phe497Leu)
c.1195T>C (p.Phe399Leu)
c.1576T>C (p.Phe526Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.48687966A>TCA346744303GTF2A1L,LHCGR,STON1-GTF2A1Lc.1831T>A (p.Phe611Ile)
c.*143T>A (n.*143T>A)
c.3441+16286A>T (n.3441+16286A>T)
c.*575T>A (n.*575T>A)
c.1750T>A (p.Phe584Ile)
c.276+16286A>T (n.276+16286A>T)
c.*220+6258T>A (n.*220+6258T>A)
c.874T>A (p.Phe292Ile)
c.901T>A (p.Phe301Ile)
c.1756T>A (p.Phe586Ile)
c.1570T>A (p.Phe524Ile)
c.1489T>A (p.Phe497Ile)
c.1195T>A (p.Phe399Ile)
c.1576T>A (p.Phe526Ile)
2g.48687967A>CCA426125611GTF2A1L,LHCGR,STON1-GTF2A1Lc.1830T>G (p.Leu610=)
c.*142T>G (n.*142T>G)
c.3441+16287A>C (n.3441+16287A>C)
c.*574T>G (n.*574T>G)
c.1749T>G (p.Leu583=)
c.276+16287A>C (n.276+16287A>C)
c.*220+6257T>G (n.*220+6257T>G)
c.873T>G (p.Leu291=)
c.900T>G (p.Leu300=)
c.1755T>G (p.Leu585=)
c.1569T>G (p.Leu523=)
c.1488T>G (p.Leu496=)
c.1194T>G (p.Leu398=)
c.1575T>G (p.Leu525=)
2g.48687967A>GCA426125610GTF2A1L,LHCGR,STON1-GTF2A1Lc.1830T>C (p.Leu610=)
c.*142T>C (n.*142T>C)
c.3441+16287A>G (n.3441+16287A>G)
c.*574T>C (n.*574T>C)
c.1749T>C (p.Leu583=)
c.276+16287A>G (n.276+16287A>G)
c.*220+6257T>C (n.*220+6257T>C)
c.873T>C (p.Leu291=)
c.900T>C (p.Leu300=)
c.1755T>C (p.Leu585=)
c.1569T>C (p.Leu523=)
c.1488T>C (p.Leu496=)
c.1194T>C (p.Leu398=)
c.1575T>C (p.Leu525=)
2g.48687967A>TCA426125604GTF2A1L,LHCGR,STON1-GTF2A1Lc.1830T>A (p.Leu610=)
c.*142T>A (n.*142T>A)
c.3441+16287A>T (n.3441+16287A>T)
c.*574T>A (n.*574T>A)
c.1749T>A (p.Leu583=)
c.276+16287A>T (n.276+16287A>T)
c.*220+6257T>A (n.*220+6257T>A)
c.873T>A (p.Leu291=)
c.900T>A (p.Leu300=)
c.1755T>A (p.Leu585=)
c.1569T>A (p.Leu523=)
c.1488T>A (p.Leu496=)
c.1194T>A (p.Leu398=)
c.1575T>A (p.Leu525=)
2g.48687968A>CCA346744311GTF2A1L,LHCGR,STON1-GTF2A1Lc.1829T>G (p.Leu610Arg)
c.*141T>G (n.*141T>G)
c.3441+16288A>C (n.3441+16288A>C)
c.*573T>G (n.*573T>G)
c.1748T>G (p.Leu583Arg)
c.276+16288A>C (n.276+16288A>C)
c.*220+6256T>G (n.*220+6256T>G)
c.872T>G (p.Leu291Arg)
c.899T>G (p.Leu300Arg)
c.1754T>G (p.Leu585Arg)
c.1568T>G (p.Leu523Arg)
c.1487T>G (p.Leu496Arg)
c.1193T>G (p.Leu398Arg)
c.1574T>G (p.Leu525Arg)
2g.48687968A>GCA346744307GTF2A1L,LHCGR,STON1-GTF2A1Lc.1829T>C (p.Leu610Pro)
c.*141T>C (n.*141T>C)
c.3441+16288A>G (n.3441+16288A>G)
c.*573T>C (n.*573T>C)
c.1748T>C (p.Leu583Pro)
c.276+16288A>G (n.276+16288A>G)
c.*220+6256T>C (n.*220+6256T>C)
c.872T>C (p.Leu291Pro)
c.899T>C (p.Leu300Pro)
c.1754T>C (p.Leu585Pro)
c.1568T>C (p.Leu523Pro)
c.1487T>C (p.Leu496Pro)
c.1193T>C (p.Leu398Pro)
c.1574T>C (p.Leu525Pro)
2g.48687968A>TCA346744306GTF2A1L,LHCGR,STON1-GTF2A1Lc.1829T>A (p.Leu610His)
c.*141T>A (n.*141T>A)
c.3441+16288A>T (n.3441+16288A>T)
c.*573T>A (n.*573T>A)
c.1748T>A (p.Leu583His)
c.276+16288A>T (n.276+16288A>T)
c.*220+6256T>A (n.*220+6256T>A)
c.872T>A (p.Leu291His)
c.899T>A (p.Leu300His)
c.1754T>A (p.Leu585His)
c.1568T>A (p.Leu523His)
c.1487T>A (p.Leu496His)
c.1193T>A (p.Leu398His)
c.1574T>A (p.Leu525His)
2g.48687970_48687975delCA2580067106GTF2A1L,LHCGR,STON1-GTF2A1Lc.1824_1829del (p.Val609_Leu610del)
c.*136_*141del (n.*136_*141del)
c.3441+16290_3441+16295del (n.3441+16290_3441+16295del)
c.*568_*573del (n.*568_*573del)
c.1743_1748del (p.Val582_Leu583del)
c.276+16290_276+16295del (n.276+16290_276+16295del)
c.*220+6251_*220+6256del (n.*220+6251_*220+6256del)
c.867_872del (p.Val290_Leu291del)
c.894_899del (p.Val299_Leu300del)
c.1749_1754del (p.Val584_Leu585del)
c.1563_1568del (p.Val522_Leu523del)
c.1482_1487del (p.Val495_Leu496del)
c.1188_1193del (p.Val397_Leu398del)
c.1569_1574del (p.Val524_Leu525del)
 ClinVar dbSNP gnomAD v4
2g.48687969G>ACA346744312GTF2A1L,LHCGR,STON1-GTF2A1Lc.1828C>T (p.Leu610Phe)
c.*140C>T (n.*140C>T)
c.3441+16289G>A (n.3441+16289G>A)
c.*572C>T (n.*572C>T)
c.1747C>T (p.Leu583Phe)
c.276+16289G>A (n.276+16289G>A)
c.*220+6255C>T (n.*220+6255C>T)
c.871C>T (p.Leu291Phe)
c.898C>T (p.Leu300Phe)
c.1753C>T (p.Leu585Phe)
c.1567C>T (p.Leu523Phe)
c.1486C>T (p.Leu496Phe)
c.1192C>T (p.Leu398Phe)
c.1573C>T (p.Leu525Phe)
2g.48687969G>CCA46752703GTF2A1L,LHCGR,STON1-GTF2A1Lc.1828C>G (p.Leu610Val)
c.*140C>G (n.*140C>G)
c.3441+16289G>C (n.3441+16289G>C)
c.*572C>G (n.*572C>G)
c.1747C>G (p.Leu583Val)
c.276+16289G>C (n.276+16289G>C)
c.*220+6255C>G (n.*220+6255C>G)
c.871C>G (p.Leu291Val)
c.898C>G (p.Leu300Val)
c.1753C>G (p.Leu585Val)
c.1567C>G (p.Leu523Val)
c.1486C>G (p.Leu496Val)
c.1192C>G (p.Leu398Val)
c.1573C>G (p.Leu525Val)
 dbSNP gnomAD v3 gnomAD v4
2g.48687969G=CA1248600924GTF2A1L,LHCGR,STON1-GTF2A1Lc.1828C= (p.Leu610=)
c.*140C= (n.*140C=)
c.3441+16289G= (n.3441+16289G=)
c.*572C= (n.*572C=)
c.1747C= (p.Leu583=)
c.276+16289G= (n.276+16289G=)
c.*220+6255C= (n.*220+6255C=)
c.871C= (p.Leu291=)
c.898C= (p.Leu300=)
c.1753C= (p.Leu585=)
c.1567C= (p.Leu523=)
c.1486C= (p.Leu496=)
c.1192C= (p.Leu398=)
c.1573C= (p.Leu525=)
2g.48687969G>TCA346744313GTF2A1L,LHCGR,STON1-GTF2A1Lc.1828C>A (p.Leu610Ile)
c.*140C>A (n.*140C>A)
c.3441+16289G>T (n.3441+16289G>T)
c.*572C>A (n.*572C>A)
c.1747C>A (p.Leu583Ile)
c.276+16289G>T (n.276+16289G>T)
c.*220+6255C>A (n.*220+6255C>A)
c.871C>A (p.Leu291Ile)
c.898C>A (p.Leu300Ile)
c.1753C>A (p.Leu585Ile)
c.1567C>A (p.Leu523Ile)
c.1486C>A (p.Leu496Ile)
c.1192C>A (p.Leu398Ile)
c.1573C>A (p.Leu525Ile)
2g.48687970A=CA1248600925GTF2A1L,LHCGR,STON1-GTF2A1Lc.1827T= (p.Val609=)
c.*139T= (n.*139T=)
c.3441+16290A= (n.3441+16290A=)
c.*571T= (n.*571T=)
c.1746T= (p.Val582=)
c.276+16290A= (n.276+16290A=)
c.*220+6254T= (n.*220+6254T=)
c.870T= (p.Val290=)
c.897T= (p.Val299=)
c.1752T= (p.Val584=)
c.1566T= (p.Val522=)
c.1485T= (p.Val495=)
c.1191T= (p.Val397=)
c.1572T= (p.Val524=)
2g.48687970A>CCA426125613GTF2A1L,LHCGR,STON1-GTF2A1Lc.1827T>G (p.Val609=)
c.*139T>G (n.*139T>G)
c.3441+16290A>C (n.3441+16290A>C)
c.*571T>G (n.*571T>G)
c.1746T>G (p.Val582=)
c.276+16290A>C (n.276+16290A>C)
c.*220+6254T>G (n.*220+6254T>G)
c.870T>G (p.Val290=)
c.897T>G (p.Val299=)
c.1752T>G (p.Val584=)
c.1566T>G (p.Val522=)
c.1485T>G (p.Val495=)
c.1191T>G (p.Val397=)
c.1572T>G (p.Val524=)
2g.48687970A>GCA426125616GTF2A1L,LHCGR,STON1-GTF2A1Lc.1827T>C (p.Val609=)
c.*139T>C (n.*139T>C)
c.3441+16290A>G (n.3441+16290A>G)
c.*571T>C (n.*571T>C)
c.1746T>C (p.Val582=)
c.276+16290A>G (n.276+16290A>G)
c.*220+6254T>C (n.*220+6254T>C)
c.870T>C (p.Val290=)
c.897T>C (p.Val299=)
c.1752T>C (p.Val584=)
c.1566T>C (p.Val522=)
c.1485T>C (p.Val495=)
c.1191T>C (p.Val397=)
c.1572T>C (p.Val524=)
 dbSNP
2g.48687970A>TCA426125620GTF2A1L,LHCGR,STON1-GTF2A1Lc.1827T>A (p.Val609=)
c.*139T>A (n.*139T>A)
c.3441+16290A>T (n.3441+16290A>T)
c.*571T>A (n.*571T>A)
c.1746T>A (p.Val582=)
c.276+16290A>T (n.276+16290A>T)
c.*220+6254T>A (n.*220+6254T>A)
c.870T>A (p.Val290=)
c.897T>A (p.Val299=)
c.1752T>A (p.Val584=)
c.1566T>A (p.Val522=)
c.1485T>A (p.Val495=)
c.1191T>A (p.Val397=)
c.1572T>A (p.Val524=)
2g.48687971A>CCA346744317GTF2A1L,LHCGR,STON1-GTF2A1Lc.1826T>G (p.Val609Gly)
c.*138T>G (n.*138T>G)
c.3441+16291A>C (n.3441+16291A>C)
c.*570T>G (n.*570T>G)
c.1745T>G (p.Val582Gly)
c.276+16291A>C (n.276+16291A>C)
c.*220+6253T>G (n.*220+6253T>G)
c.869T>G (p.Val290Gly)
c.896T>G (p.Val299Gly)
c.1751T>G (p.Val584Gly)
c.1565T>G (p.Val522Gly)
c.1484T>G (p.Val495Gly)
c.1190T>G (p.Val397Gly)
c.1571T>G (p.Val524Gly)
2g.48687971A>GCA346744322GTF2A1L,LHCGR,STON1-GTF2A1Lc.1826T>C (p.Val609Ala)
c.*138T>C (n.*138T>C)
c.3441+16291A>G (n.3441+16291A>G)
c.*570T>C (n.*570T>C)
c.1745T>C (p.Val582Ala)
c.276+16291A>G (n.276+16291A>G)
c.*220+6253T>C (n.*220+6253T>C)
c.869T>C (p.Val290Ala)
c.896T>C (p.Val299Ala)
c.1751T>C (p.Val584Ala)
c.1565T>C (p.Val522Ala)
c.1484T>C (p.Val495Ala)
c.1190T>C (p.Val397Ala)
c.1571T>C (p.Val524Ala)
2g.48687971A>TCA346744319GTF2A1L,LHCGR,STON1-GTF2A1Lc.1826T>A (p.Val609Asp)
c.*138T>A (n.*138T>A)
c.3441+16291A>T (n.3441+16291A>T)
c.*570T>A (n.*570T>A)
c.1745T>A (p.Val582Asp)
c.276+16291A>T (n.276+16291A>T)
c.*220+6253T>A (n.*220+6253T>A)
c.869T>A (p.Val290Asp)
c.896T>A (p.Val299Asp)
c.1751T>A (p.Val584Asp)
c.1565T>A (p.Val522Asp)
c.1484T>A (p.Val495Asp)
c.1190T>A (p.Val397Asp)
c.1571T>A (p.Val524Asp)
2g.48687972C>ACA346744326GTF2A1L,LHCGR,STON1-GTF2A1Lc.1825G>T (p.Val609Phe)
c.*137G>T (n.*137G>T)
c.3441+16292C>A (n.3441+16292C>A)
c.*569G>T (n.*569G>T)
c.1744G>T (p.Val582Phe)
c.276+16292C>A (n.276+16292C>A)
c.*220+6252G>T (n.*220+6252G>T)
c.868G>T (p.Val290Phe)
c.895G>T (p.Val299Phe)
c.1750G>T (p.Val584Phe)
c.1564G>T (p.Val522Phe)
c.1483G>T (p.Val495Phe)
c.1189G>T (p.Val397Phe)
c.1570G>T (p.Val524Phe)
2g.48687972C=CA1248600926GTF2A1L,LHCGR,STON1-GTF2A1Lc.1825G= (p.Val609=)
c.*137G= (n.*137G=)
c.3441+16292C= (n.3441+16292C=)
c.*569G= (n.*569G=)
c.1744G= (p.Val582=)
c.276+16292C= (n.276+16292C=)
c.*220+6252G= (n.*220+6252G=)
c.868G= (p.Val290=)
c.895G= (p.Val299=)
c.1750G= (p.Val584=)
c.1564G= (p.Val522=)
c.1483G= (p.Val495=)
c.1189G= (p.Val397=)
c.1570G= (p.Val524=)
2g.48687972C>GCA346744331GTF2A1L,LHCGR,STON1-GTF2A1Lc.1825G>C (p.Val609Leu)
c.*137G>C (n.*137G>C)
c.3441+16292C>G (n.3441+16292C>G)
c.*569G>C (n.*569G>C)
c.1744G>C (p.Val582Leu)
c.276+16292C>G (n.276+16292C>G)
c.*220+6252G>C (n.*220+6252G>C)
c.868G>C (p.Val290Leu)
c.895G>C (p.Val299Leu)
c.1750G>C (p.Val584Leu)
c.1564G>C (p.Val522Leu)
c.1483G>C (p.Val495Leu)
c.1189G>C (p.Val397Leu)
c.1570G>C (p.Val524Leu)
 dbSNP
2g.48687972C>TCA346744329GTF2A1L,LHCGR,STON1-GTF2A1Lc.1825G>A (p.Val609Ile)
c.*137G>A (n.*137G>A)
c.3441+16292C>T (n.3441+16292C>T)
c.*569G>A (n.*569G>A)
c.1744G>A (p.Val582Ile)
c.276+16292C>T (n.276+16292C>T)
c.*220+6252G>A (n.*220+6252G>A)
c.868G>A (p.Val290Ile)
c.895G>A (p.Val299Ile)
c.1750G>A (p.Val584Ile)
c.1564G>A (p.Val522Ile)
c.1483G>A (p.Val495Ile)
c.1189G>A (p.Val397Ile)
c.1570G>A (p.Val524Ile)
 dbSNP

Number of alleles fetched