Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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
2g.48687973C>ACA426125631GTF2A1L,LHCGR,STON1-GTF2A1Lc.1824G>T (p.Leu608=)
c.*136G>T (n.*136G>T)
c.3441+16293C>A (n.3441+16293C>A)
c.*568G>T (n.*568G>T)
c.1743G>T (p.Leu581=)
c.276+16293C>A (n.276+16293C>A)
c.*220+6251G>T (n.*220+6251G>T)
c.867G>T (p.Leu289=)
c.894G>T (p.Leu298=)
c.1749G>T (p.Leu583=)
c.1563G>T (p.Leu521=)
c.1482G>T (p.Leu494=)
c.1188G>T (p.Leu396=)
c.1569G>T (p.Leu523=)
 dbSNP gnomAD v3 gnomAD v4
2g.48687973C=CA1248600927GTF2A1L,LHCGR,STON1-GTF2A1Lc.1824G= (p.Leu608=)
c.*136G= (n.*136G=)
c.3441+16293C= (n.3441+16293C=)
c.*568G= (n.*568G=)
c.1743G= (p.Leu581=)
c.276+16293C= (n.276+16293C=)
c.*220+6251G= (n.*220+6251G=)
c.867G= (p.Leu289=)
c.894G= (p.Leu298=)
c.1749G= (p.Leu583=)
c.1563G= (p.Leu521=)
c.1482G= (p.Leu494=)
c.1188G= (p.Leu396=)
c.1569G= (p.Leu523=)
2g.48687973C>GCA426125634GTF2A1L,LHCGR,STON1-GTF2A1Lc.1824G>C (p.Leu608=)
c.*136G>C (n.*136G>C)
c.3441+16293C>G (n.3441+16293C>G)
c.*568G>C (n.*568G>C)
c.1743G>C (p.Leu581=)
c.276+16293C>G (n.276+16293C>G)
c.*220+6251G>C (n.*220+6251G>C)
c.867G>C (p.Leu289=)
c.894G>C (p.Leu298=)
c.1749G>C (p.Leu583=)
c.1563G>C (p.Leu521=)
c.1482G>C (p.Leu494=)
c.1188G>C (p.Leu396=)
c.1569G>C (p.Leu523=)
 dbSNP gnomAD v2 gnomAD v4
2g.48687973C>TCA426125633GTF2A1L,LHCGR,STON1-GTF2A1Lc.1824G>A (p.Leu608=)
c.*136G>A (n.*136G>A)
c.3441+16293C>T (n.3441+16293C>T)
c.*568G>A (n.*568G>A)
c.1743G>A (p.Leu581=)
c.276+16293C>T (n.276+16293C>T)
c.*220+6251G>A (n.*220+6251G>A)
c.867G>A (p.Leu289=)
c.894G>A (p.Leu298=)
c.1749G>A (p.Leu583=)
c.1563G>A (p.Leu521=)
c.1482G>A (p.Leu494=)
c.1188G>A (p.Leu396=)
c.1569G>A (p.Leu523=)
2g.48687974A=CA1248600928GTF2A1L,LHCGR,STON1-GTF2A1Lc.1823T= (p.Leu608=)
c.*135T= (n.*135T=)
c.3441+16294A= (n.3441+16294A=)
c.*567T= (n.*567T=)
c.1742T= (p.Leu581=)
c.276+16294A= (n.276+16294A=)
c.*220+6250T= (n.*220+6250T=)
c.866T= (p.Leu289=)
c.893T= (p.Leu298=)
c.1748T= (p.Leu583=)
c.1562T= (p.Leu521=)
c.1481T= (p.Leu494=)
c.1187T= (p.Leu396=)
c.1568T= (p.Leu523=)
2g.48687974A>CCA346744334GTF2A1L,LHCGR,STON1-GTF2A1Lc.1823T>G (p.Leu608Arg)
c.*135T>G (n.*135T>G)
c.3441+16294A>C (n.3441+16294A>C)
c.*567T>G (n.*567T>G)
c.1742T>G (p.Leu581Arg)
c.276+16294A>C (n.276+16294A>C)
c.*220+6250T>G (n.*220+6250T>G)
c.866T>G (p.Leu289Arg)
c.893T>G (p.Leu298Arg)
c.1748T>G (p.Leu583Arg)
c.1562T>G (p.Leu521Arg)
c.1481T>G (p.Leu494Arg)
c.1187T>G (p.Leu396Arg)
c.1568T>G (p.Leu523Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.48687974A>GCA346744336GTF2A1L,LHCGR,STON1-GTF2A1Lc.1823T>C (p.Leu608Pro)
c.*135T>C (n.*135T>C)
c.3441+16294A>G (n.3441+16294A>G)
c.*567T>C (n.*567T>C)
c.1742T>C (p.Leu581Pro)
c.276+16294A>G (n.276+16294A>G)
c.*220+6250T>C (n.*220+6250T>C)
c.866T>C (p.Leu289Pro)
c.893T>C (p.Leu298Pro)
c.1748T>C (p.Leu583Pro)
c.1562T>C (p.Leu521Pro)
c.1481T>C (p.Leu494Pro)
c.1187T>C (p.Leu396Pro)
c.1568T>C (p.Leu523Pro)
 dbSNP
2g.48687974A>TCA346744338GTF2A1L,LHCGR,STON1-GTF2A1Lc.1823T>A (p.Leu608Gln)
c.*135T>A (n.*135T>A)
c.3441+16294A>T (n.3441+16294A>T)
c.*567T>A (n.*567T>A)
c.1742T>A (p.Leu581Gln)
c.276+16294A>T (n.276+16294A>T)
c.*220+6250T>A (n.*220+6250T>A)
c.866T>A (p.Leu289Gln)
c.893T>A (p.Leu298Gln)
c.1748T>A (p.Leu583Gln)
c.1562T>A (p.Leu521Gln)
c.1481T>A (p.Leu494Gln)
c.1187T>A (p.Leu396Gln)
c.1568T>A (p.Leu523Gln)
2g.48687975G>ACA426125638GTF2A1L,LHCGR,STON1-GTF2A1Lc.1822C>T (p.Leu608=)
c.*134C>T (n.*134C>T)
c.3441+16295G>A (n.3441+16295G>A)
c.*566C>T (n.*566C>T)
c.1741C>T (p.Leu581=)
c.276+16295G>A (n.276+16295G>A)
c.*220+6249C>T (n.*220+6249C>T)
c.865C>T (p.Leu289=)
c.892C>T (p.Leu298=)
c.1747C>T (p.Leu583=)
c.1561C>T (p.Leu521=)
c.1480C>T (p.Leu494=)
c.1186C>T (p.Leu396=)
c.1567C>T (p.Leu523=)
 COSMIC
2g.48687975G>CCA346744340GTF2A1L,LHCGR,STON1-GTF2A1Lc.1822C>G (p.Leu608Val)
c.*134C>G (n.*134C>G)
c.3441+16295G>C (n.3441+16295G>C)
c.*566C>G (n.*566C>G)
c.1741C>G (p.Leu581Val)
c.276+16295G>C (n.276+16295G>C)
c.*220+6249C>G (n.*220+6249C>G)
c.865C>G (p.Leu289Val)
c.892C>G (p.Leu298Val)
c.1747C>G (p.Leu583Val)
c.1561C>G (p.Leu521Val)
c.1480C>G (p.Leu494Val)
c.1186C>G (p.Leu396Val)
c.1567C>G (p.Leu523Val)
2g.48687975G>TCA346744342GTF2A1L,LHCGR,STON1-GTF2A1Lc.1822C>A (p.Leu608Met)
c.*134C>A (n.*134C>A)
c.3441+16295G>T (n.3441+16295G>T)
c.*566C>A (n.*566C>A)
c.1741C>A (p.Leu581Met)
c.276+16295G>T (n.276+16295G>T)
c.*220+6249C>A (n.*220+6249C>A)
c.865C>A (p.Leu289Met)
c.892C>A (p.Leu298Met)
c.1747C>A (p.Leu583Met)
c.1561C>A (p.Leu521Met)
c.1480C>A (p.Leu494Met)
c.1186C>A (p.Leu396Met)
c.1567C>A (p.Leu523Met)
2g.48687976T>ACA346744344GTF2A1L,LHCGR,STON1-GTF2A1Lc.1821A>T (p.Leu607Phe)
c.*133A>T (n.*133A>T)
c.3441+16296T>A (n.3441+16296T>A)
c.*565A>T (n.*565A>T)
c.1740A>T (p.Leu580Phe)
c.276+16296T>A (n.276+16296T>A)
c.*220+6248A>T (n.*220+6248A>T)
c.864A>T (p.Leu288Phe)
c.891A>T (p.Leu297Phe)
c.1746A>T (p.Leu582Phe)
c.1560A>T (p.Leu520Phe)
c.1479A>T (p.Leu493Phe)
c.1185A>T (p.Leu395Phe)
c.1566A>T (p.Leu522Phe)
2g.48687976T>CCA1652982GTF2A1L,LHCGR,STON1-GTF2A1Lc.1821A>G (p.Leu607=)
c.*133A>G (n.*133A>G)
c.3441+16296T>C (n.3441+16296T>C)
c.*565A>G (n.*565A>G)
c.1740A>G (p.Leu580=)
c.276+16296T>C (n.276+16296T>C)
c.*220+6248A>G (n.*220+6248A>G)
c.864A>G (p.Leu288=)
c.891A>G (p.Leu297=)
c.1746A>G (p.Leu582=)
c.1560A>G (p.Leu520=)
c.1479A>G (p.Leu493=)
c.1185A>G (p.Leu395=)
c.1566A>G (p.Leu522=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687976T>GCA346744350GTF2A1L,LHCGR,STON1-GTF2A1Lc.1821A>C (p.Leu607Phe)
c.*133A>C (n.*133A>C)
c.3441+16296T>G (n.3441+16296T>G)
c.*565A>C (n.*565A>C)
c.1740A>C (p.Leu580Phe)
c.276+16296T>G (n.276+16296T>G)
c.*220+6248A>C (n.*220+6248A>C)
c.864A>C (p.Leu288Phe)
c.891A>C (p.Leu297Phe)
c.1746A>C (p.Leu582Phe)
c.1560A>C (p.Leu520Phe)
c.1479A>C (p.Leu493Phe)
c.1185A>C (p.Leu395Phe)
c.1566A>C (p.Leu522Phe)
2g.48687976T=CA1248600929GTF2A1L,LHCGR,STON1-GTF2A1Lc.1821A= (p.Leu607=)
c.*133A= (n.*133A=)
c.3441+16296T= (n.3441+16296T=)
c.*565A= (n.*565A=)
c.1740A= (p.Leu580=)
c.276+16296T= (n.276+16296T=)
c.*220+6248A= (n.*220+6248A=)
c.864A= (p.Leu288=)
c.891A= (p.Leu297=)
c.1746A= (p.Leu582=)
c.1560A= (p.Leu520=)
c.1479A= (p.Leu493=)
c.1185A= (p.Leu395=)
c.1566A= (p.Leu522=)
2g.48687977A>CCA346744352GTF2A1L,LHCGR,STON1-GTF2A1Lc.1820T>G (p.Leu607Ter)
c.*132T>G (n.*132T>G)
c.3441+16297A>C (n.3441+16297A>C)
c.*564T>G (n.*564T>G)
c.1739T>G (p.Leu580Ter)
c.276+16297A>C (n.276+16297A>C)
c.*220+6247T>G (n.*220+6247T>G)
c.863T>G (p.Leu288Ter)
c.890T>G (p.Leu297Ter)
c.1745T>G (p.Leu582Ter)
c.1559T>G (p.Leu520Ter)
c.1478T>G (p.Leu493Ter)
c.1184T>G (p.Leu395Ter)
c.1565T>G (p.Leu522Ter)
2g.48687977A>GCA346744355GTF2A1L,LHCGR,STON1-GTF2A1Lc.1820T>C (p.Leu607Ser)
c.*132T>C (n.*132T>C)
c.3441+16297A>G (n.3441+16297A>G)
c.*564T>C (n.*564T>C)
c.1739T>C (p.Leu580Ser)
c.276+16297A>G (n.276+16297A>G)
c.*220+6247T>C (n.*220+6247T>C)
c.863T>C (p.Leu288Ser)
c.890T>C (p.Leu297Ser)
c.1745T>C (p.Leu582Ser)
c.1559T>C (p.Leu520Ser)
c.1478T>C (p.Leu493Ser)
c.1184T>C (p.Leu395Ser)
c.1565T>C (p.Leu522Ser)
2g.48687977A>TCA346744358GTF2A1L,LHCGR,STON1-GTF2A1Lc.1820T>A (p.Leu607Ter)
c.*132T>A (n.*132T>A)
c.3441+16297A>T (n.3441+16297A>T)
c.*564T>A (n.*564T>A)
c.1739T>A (p.Leu580Ter)
c.276+16297A>T (n.276+16297A>T)
c.*220+6247T>A (n.*220+6247T>A)
c.863T>A (p.Leu288Ter)
c.890T>A (p.Leu297Ter)
c.1745T>A (p.Leu582Ter)
c.1559T>A (p.Leu520Ter)
c.1478T>A (p.Leu493Ter)
c.1184T>A (p.Leu395Ter)
c.1565T>A (p.Leu522Ter)
2g.48687978A=CA1248600930GTF2A1L,LHCGR,STON1-GTF2A1Lc.1819T= (p.Leu607=)
c.*131T= (n.*131T=)
c.3441+16298A= (n.3441+16298A=)
c.*563T= (n.*563T=)
c.1738T= (p.Leu580=)
c.276+16298A= (n.276+16298A=)
c.*220+6246T= (n.*220+6246T=)
c.862T= (p.Leu288=)
c.889T= (p.Leu297=)
c.1744T= (p.Leu582=)
c.1558T= (p.Leu520=)
c.1477T= (p.Leu493=)
c.1183T= (p.Leu395=)
c.1564T= (p.Leu522=)
2g.48687978A>CCA1652983GTF2A1L,LHCGR,STON1-GTF2A1Lc.1819T>G (p.Leu607Val)
c.*131T>G (n.*131T>G)
c.3441+16298A>C (n.3441+16298A>C)
c.*563T>G (n.*563T>G)
c.1738T>G (p.Leu580Val)
c.276+16298A>C (n.276+16298A>C)
c.*220+6246T>G (n.*220+6246T>G)
c.862T>G (p.Leu288Val)
c.889T>G (p.Leu297Val)
c.1744T>G (p.Leu582Val)
c.1558T>G (p.Leu520Val)
c.1477T>G (p.Leu493Val)
c.1183T>G (p.Leu395Val)
c.1564T>G (p.Leu522Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687978A>GCA426125655GTF2A1L,LHCGR,STON1-GTF2A1Lc.1819T>C (p.Leu607=)
c.*131T>C (n.*131T>C)
c.3441+16298A>G (n.3441+16298A>G)
c.*563T>C (n.*563T>C)
c.1738T>C (p.Leu580=)
c.276+16298A>G (n.276+16298A>G)
c.*220+6246T>C (n.*220+6246T>C)
c.862T>C (p.Leu288=)
c.889T>C (p.Leu297=)
c.1744T>C (p.Leu582=)
c.1558T>C (p.Leu520=)
c.1477T>C (p.Leu493=)
c.1183T>C (p.Leu395=)
c.1564T>C (p.Leu522=)
2g.48687978A>TCA346744361GTF2A1L,LHCGR,STON1-GTF2A1Lc.1819T>A (p.Leu607Ile)
c.*131T>A (n.*131T>A)
c.3441+16298A>T (n.3441+16298A>T)
c.*563T>A (n.*563T>A)
c.1738T>A (p.Leu580Ile)
c.276+16298A>T (n.276+16298A>T)
c.*220+6246T>A (n.*220+6246T>A)
c.862T>A (p.Leu288Ile)
c.889T>A (p.Leu297Ile)
c.1744T>A (p.Leu582Ile)
c.1558T>A (p.Leu520Ile)
c.1477T>A (p.Leu493Ile)
c.1183T>A (p.Leu395Ile)
c.1564T>A (p.Leu522Ile)
2g.48687979A=CA1248600931GTF2A1L,LHCGR,STON1-GTF2A1Lc.1818T= (p.Val606=)
c.*130T= (n.*130T=)
c.3441+16299A= (n.3441+16299A=)
c.*562T= (n.*562T=)
c.1737T= (p.Val579=)
c.276+16299A= (n.276+16299A=)
c.*220+6245T= (n.*220+6245T=)
c.861T= (p.Val287=)
c.888T= (p.Val296=)
c.1743T= (p.Val581=)
c.1557T= (p.Val519=)
c.1476T= (p.Val492=)
c.1182T= (p.Val394=)
c.1563T= (p.Val521=)
2g.48687979A>CCA426125658GTF2A1L,LHCGR,STON1-GTF2A1Lc.1818T>G (p.Val606=)
c.*130T>G (n.*130T>G)
c.3441+16299A>C (n.3441+16299A>C)
c.*562T>G (n.*562T>G)
c.1737T>G (p.Val579=)
c.276+16299A>C (n.276+16299A>C)
c.*220+6245T>G (n.*220+6245T>G)
c.861T>G (p.Val287=)
c.888T>G (p.Val296=)
c.1743T>G (p.Val581=)
c.1557T>G (p.Val519=)
c.1476T>G (p.Val492=)
c.1182T>G (p.Val394=)
c.1563T>G (p.Val521=)
2g.48687979A>GCA426125659GTF2A1L,LHCGR,STON1-GTF2A1Lc.1818T>C (p.Val606=)
c.*130T>C (n.*130T>C)
c.3441+16299A>G (n.3441+16299A>G)
c.*562T>C (n.*562T>C)
c.1737T>C (p.Val579=)
c.276+16299A>G (n.276+16299A>G)
c.*220+6245T>C (n.*220+6245T>C)
c.861T>C (p.Val287=)
c.888T>C (p.Val296=)
c.1743T>C (p.Val581=)
c.1557T>C (p.Val519=)
c.1476T>C (p.Val492=)
c.1182T>C (p.Val394=)
c.1563T>C (p.Val521=)
 dbSNP gnomAD v4
2g.48687979A>TCA426125660GTF2A1L,LHCGR,STON1-GTF2A1Lc.1818T>A (p.Val606=)
c.*130T>A (n.*130T>A)
c.3441+16299A>T (n.3441+16299A>T)
c.*562T>A (n.*562T>A)
c.1737T>A (p.Val579=)
c.276+16299A>T (n.276+16299A>T)
c.*220+6245T>A (n.*220+6245T>A)
c.861T>A (p.Val287=)
c.888T>A (p.Val296=)
c.1743T>A (p.Val581=)
c.1557T>A (p.Val519=)
c.1476T>A (p.Val492=)
c.1182T>A (p.Val394=)
c.1563T>A (p.Val521=)
2g.48687980A=CA1248600932GTF2A1L,LHCGR,STON1-GTF2A1Lc.1817T= (p.Val606=)
c.*129T= (n.*129T=)
c.3441+16300A= (n.3441+16300A=)
c.*561T= (n.*561T=)
c.1736T= (p.Val579=)
c.276+16300A= (n.276+16300A=)
c.*220+6244T= (n.*220+6244T=)
c.860T= (p.Val287=)
c.887T= (p.Val296=)
c.1742T= (p.Val581=)
c.1556T= (p.Val519=)
c.1475T= (p.Val492=)
c.1181T= (p.Val394=)
c.1562T= (p.Val521=)
2g.48687980A>CCA346744365GTF2A1L,LHCGR,STON1-GTF2A1Lc.1817T>G (p.Val606Gly)
c.*129T>G (n.*129T>G)
c.3441+16300A>C (n.3441+16300A>C)
c.*561T>G (n.*561T>G)
c.1736T>G (p.Val579Gly)
c.276+16300A>C (n.276+16300A>C)
c.*220+6244T>G (n.*220+6244T>G)
c.860T>G (p.Val287Gly)
c.887T>G (p.Val296Gly)
c.1742T>G (p.Val581Gly)
c.1556T>G (p.Val519Gly)
c.1475T>G (p.Val492Gly)
c.1181T>G (p.Val394Gly)
c.1562T>G (p.Val521Gly)
2g.48687980A>GCA1652984GTF2A1L,LHCGR,STON1-GTF2A1Lc.1817T>C (p.Val606Ala)
c.*129T>C (n.*129T>C)
c.3441+16300A>G (n.3441+16300A>G)
c.*561T>C (n.*561T>C)
c.1736T>C (p.Val579Ala)
c.276+16300A>G (n.276+16300A>G)
c.*220+6244T>C (n.*220+6244T>C)
c.860T>C (p.Val287Ala)
c.887T>C (p.Val296Ala)
c.1742T>C (p.Val581Ala)
c.1556T>C (p.Val519Ala)
c.1475T>C (p.Val492Ala)
c.1181T>C (p.Val394Ala)
c.1562T>C (p.Val521Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687980A>TCA346744370GTF2A1L,LHCGR,STON1-GTF2A1Lc.1817T>A (p.Val606Asp)
c.*129T>A (n.*129T>A)
c.3441+16300A>T (n.3441+16300A>T)
c.*561T>A (n.*561T>A)
c.1736T>A (p.Val579Asp)
c.276+16300A>T (n.276+16300A>T)
c.*220+6244T>A (n.*220+6244T>A)
c.860T>A (p.Val287Asp)
c.887T>A (p.Val296Asp)
c.1742T>A (p.Val581Asp)
c.1556T>A (p.Val519Asp)
c.1475T>A (p.Val492Asp)
c.1181T>A (p.Val394Asp)
c.1562T>A (p.Val521Asp)
2g.48687981C>ACA346744373GTF2A1L,LHCGR,STON1-GTF2A1Lc.1816G>T (p.Val606Phe)
c.*128G>T (n.*128G>T)
c.3441+16301C>A (n.3441+16301C>A)
c.*560G>T (n.*560G>T)
c.1735G>T (p.Val579Phe)
c.276+16301C>A (n.276+16301C>A)
c.*220+6243G>T (n.*220+6243G>T)
c.859G>T (p.Val287Phe)
c.886G>T (p.Val296Phe)
c.1741G>T (p.Val581Phe)
c.1555G>T (p.Val519Phe)
c.1474G>T (p.Val492Phe)
c.1180G>T (p.Val394Phe)
c.1561G>T (p.Val521Phe)
2g.48687981C=CA1248600933GTF2A1L,LHCGR,STON1-GTF2A1Lc.1816G= (p.Val606=)
c.*128G= (n.*128G=)
c.3441+16301C= (n.3441+16301C=)
c.*560G= (n.*560G=)
c.1735G= (p.Val579=)
c.276+16301C= (n.276+16301C=)
c.*220+6243G= (n.*220+6243G=)
c.859G= (p.Val287=)
c.886G= (p.Val296=)
c.1741G= (p.Val581=)
c.1555G= (p.Val519=)
c.1474G= (p.Val492=)
c.1180G= (p.Val394=)
c.1561G= (p.Val521=)
2g.48687981C>GCA346744375GTF2A1L,LHCGR,STON1-GTF2A1Lc.1816G>C (p.Val606Leu)
c.*128G>C (n.*128G>C)
c.3441+16301C>G (n.3441+16301C>G)
c.*560G>C (n.*560G>C)
c.1735G>C (p.Val579Leu)
c.276+16301C>G (n.276+16301C>G)
c.*220+6243G>C (n.*220+6243G>C)
c.859G>C (p.Val287Leu)
c.886G>C (p.Val296Leu)
c.1741G>C (p.Val581Leu)
c.1555G>C (p.Val519Leu)
c.1474G>C (p.Val492Leu)
c.1180G>C (p.Val394Leu)
c.1561G>C (p.Val521Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48687981C>TCA346744377GTF2A1L,LHCGR,STON1-GTF2A1Lc.1816G>A (p.Val606Ile)
c.*128G>A (n.*128G>A)
c.3441+16301C>T (n.3441+16301C>T)
c.*560G>A (n.*560G>A)
c.1735G>A (p.Val579Ile)
c.276+16301C>T (n.276+16301C>T)
c.*220+6243G>A (n.*220+6243G>A)
c.859G>A (p.Val287Ile)
c.886G>A (p.Val296Ile)
c.1741G>A (p.Val581Ile)
c.1555G>A (p.Val519Ile)
c.1474G>A (p.Val492Ile)
c.1180G>A (p.Val394Ile)
c.1561G>A (p.Val521Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.48687982T>ACA346744379GTF2A1L,LHCGR,STON1-GTF2A1Lc.1815A>T (p.Lys605Asn)
c.*127A>T (n.*127A>T)
c.3441+16302T>A (n.3441+16302T>A)
c.*559A>T (n.*559A>T)
c.1734A>T (p.Lys578Asn)
c.276+16302T>A (n.276+16302T>A)
c.*220+6242A>T (n.*220+6242A>T)
c.858A>T (p.Lys286Asn)
c.885A>T (p.Lys295Asn)
c.1740A>T (p.Lys580Asn)
c.1554A>T (p.Lys518Asn)
c.1473A>T (p.Lys491Asn)
c.1179A>T (p.Lys393Asn)
c.1560A>T (p.Lys520Asn)
2g.48687982T>CCA426125667GTF2A1L,LHCGR,STON1-GTF2A1Lc.1815A>G (p.Lys605=)
c.*127A>G (n.*127A>G)
c.3441+16302T>C (n.3441+16302T>C)
c.*559A>G (n.*559A>G)
c.1734A>G (p.Lys578=)
c.276+16302T>C (n.276+16302T>C)
c.*220+6242A>G (n.*220+6242A>G)
c.858A>G (p.Lys286=)
c.885A>G (p.Lys295=)
c.1740A>G (p.Lys580=)
c.1554A>G (p.Lys518=)
c.1473A>G (p.Lys491=)
c.1179A>G (p.Lys393=)
c.1560A>G (p.Lys520=)
2g.48687982T>GCA346744382GTF2A1L,LHCGR,STON1-GTF2A1Lc.1815A>C (p.Lys605Asn)
c.*127A>C (n.*127A>C)
c.3441+16302T>G (n.3441+16302T>G)
c.*559A>C (n.*559A>C)
c.1734A>C (p.Lys578Asn)
c.276+16302T>G (n.276+16302T>G)
c.*220+6242A>C (n.*220+6242A>C)
c.858A>C (p.Lys286Asn)
c.885A>C (p.Lys295Asn)
c.1740A>C (p.Lys580Asn)
c.1554A>C (p.Lys518Asn)
c.1473A>C (p.Lys491Asn)
c.1179A>C (p.Lys393Asn)
c.1560A>C (p.Lys520Asn)
 COSMIC
2g.48687983T>ACA346744384GTF2A1L,LHCGR,STON1-GTF2A1Lc.1814A>T (p.Lys605Ile)
c.*126A>T (n.*126A>T)
c.3441+16303T>A (n.3441+16303T>A)
c.*558A>T (n.*558A>T)
c.1733A>T (p.Lys578Ile)
c.276+16303T>A (n.276+16303T>A)
c.*220+6241A>T (n.*220+6241A>T)
c.857A>T (p.Lys286Ile)
c.884A>T (p.Lys295Ile)
c.1739A>T (p.Lys580Ile)
c.1553A>T (p.Lys518Ile)
c.1472A>T (p.Lys491Ile)
c.1178A>T (p.Lys393Ile)
c.1559A>T (p.Lys520Ile)
2g.48687983T>CCA346744387GTF2A1L,LHCGR,STON1-GTF2A1Lc.1814A>G (p.Lys605Arg)
c.*126A>G (n.*126A>G)
c.3441+16303T>C (n.3441+16303T>C)
c.*558A>G (n.*558A>G)
c.1733A>G (p.Lys578Arg)
c.276+16303T>C (n.276+16303T>C)
c.*220+6241A>G (n.*220+6241A>G)
c.857A>G (p.Lys286Arg)
c.884A>G (p.Lys295Arg)
c.1739A>G (p.Lys580Arg)
c.1553A>G (p.Lys518Arg)
c.1472A>G (p.Lys491Arg)
c.1178A>G (p.Lys393Arg)
c.1559A>G (p.Lys520Arg)
2g.48687983T>GCA346744391GTF2A1L,LHCGR,STON1-GTF2A1Lc.1814A>C (p.Lys605Thr)
c.*126A>C (n.*126A>C)
c.3441+16303T>G (n.3441+16303T>G)
c.*558A>C (n.*558A>C)
c.1733A>C (p.Lys578Thr)
c.276+16303T>G (n.276+16303T>G)
c.*220+6241A>C (n.*220+6241A>C)
c.857A>C (p.Lys286Thr)
c.884A>C (p.Lys295Thr)
c.1739A>C (p.Lys580Thr)
c.1553A>C (p.Lys518Thr)
c.1472A>C (p.Lys491Thr)
c.1178A>C (p.Lys393Thr)
c.1559A>C (p.Lys520Thr)
2g.48687984T>ACA346744403GTF2A1L,LHCGR,STON1-GTF2A1Lc.1813A>T (p.Lys605Ter)
c.*125A>T (n.*125A>T)
c.3441+16304T>A (n.3441+16304T>A)
c.*557A>T (n.*557A>T)
c.1732A>T (p.Lys578Ter)
c.276+16304T>A (n.276+16304T>A)
c.*220+6240A>T (n.*220+6240A>T)
c.856A>T (p.Lys286Ter)
c.883A>T (p.Lys295Ter)
c.1738A>T (p.Lys580Ter)
c.1552A>T (p.Lys518Ter)
c.1471A>T (p.Lys491Ter)
c.1177A>T (p.Lys393Ter)
c.1558A>T (p.Lys520Ter)
 gnomAD v4
2g.48687984T>CCA346744401GTF2A1L,LHCGR,STON1-GTF2A1Lc.1813A>G (p.Lys605Glu)
c.*125A>G (n.*125A>G)
c.3441+16304T>C (n.3441+16304T>C)
c.*557A>G (n.*557A>G)
c.1732A>G (p.Lys578Glu)
c.276+16304T>C (n.276+16304T>C)
c.*220+6240A>G (n.*220+6240A>G)
c.856A>G (p.Lys286Glu)
c.883A>G (p.Lys295Glu)
c.1738A>G (p.Lys580Glu)
c.1552A>G (p.Lys518Glu)
c.1471A>G (p.Lys491Glu)
c.1177A>G (p.Lys393Glu)
c.1558A>G (p.Lys520Glu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.48687984T>GCA346744395GTF2A1L,LHCGR,STON1-GTF2A1Lc.1813A>C (p.Lys605Gln)
c.*125A>C (n.*125A>C)
c.3441+16304T>G (n.3441+16304T>G)
c.*557A>C (n.*557A>C)
c.1732A>C (p.Lys578Gln)
c.276+16304T>G (n.276+16304T>G)
c.*220+6240A>C (n.*220+6240A>C)
c.856A>C (p.Lys286Gln)
c.883A>C (p.Lys295Gln)
c.1738A>C (p.Lys580Gln)
c.1552A>C (p.Lys518Gln)
c.1471A>C (p.Lys491Gln)
c.1177A>C (p.Lys393Gln)
c.1558A>C (p.Lys520Gln)
2g.48687984T=CA1248600934GTF2A1L,LHCGR,STON1-GTF2A1Lc.1813A= (p.Lys605=)
c.*125A= (n.*125A=)
c.3441+16304T= (n.3441+16304T=)
c.*557A= (n.*557A=)
c.1732A= (p.Lys578=)
c.276+16304T= (n.276+16304T=)
c.*220+6240A= (n.*220+6240A=)
c.856A= (p.Lys286=)
c.883A= (p.Lys295=)
c.1738A= (p.Lys580=)
c.1552A= (p.Lys518=)
c.1471A= (p.Lys491=)
c.1177A= (p.Lys393=)
c.1558A= (p.Lys520=)
2g.48687985A>CCA426125680GTF2A1L,LHCGR,STON1-GTF2A1Lc.1812T>G (p.Ser604=)
c.*124T>G (n.*124T>G)
c.3441+16305A>C (n.3441+16305A>C)
c.*556T>G (n.*556T>G)
c.1731T>G (p.Ser577=)
c.276+16305A>C (n.276+16305A>C)
c.*220+6239T>G (n.*220+6239T>G)
c.855T>G (p.Ser285=)
c.882T>G (p.Ser294=)
c.1737T>G (p.Ser579=)
c.1551T>G (p.Ser517=)
c.1470T>G (p.Ser490=)
c.1176T>G (p.Ser392=)
c.1557T>G (p.Ser519=)
2g.48687985A>GCA426125681GTF2A1L,LHCGR,STON1-GTF2A1Lc.1812T>C (p.Ser604=)
c.*124T>C (n.*124T>C)
c.3441+16305A>G (n.3441+16305A>G)
c.*556T>C (n.*556T>C)
c.1731T>C (p.Ser577=)
c.276+16305A>G (n.276+16305A>G)
c.*220+6239T>C (n.*220+6239T>C)
c.855T>C (p.Ser285=)
c.882T>C (p.Ser294=)
c.1737T>C (p.Ser579=)
c.1551T>C (p.Ser517=)
c.1470T>C (p.Ser490=)
c.1176T>C (p.Ser392=)
c.1557T>C (p.Ser519=)
2g.48687985A>TCA426125682GTF2A1L,LHCGR,STON1-GTF2A1Lc.1812T>A (p.Ser604=)
c.*124T>A (n.*124T>A)
c.3441+16305A>T (n.3441+16305A>T)
c.*556T>A (n.*556T>A)
c.1731T>A (p.Ser577=)
c.276+16305A>T (n.276+16305A>T)
c.*220+6239T>A (n.*220+6239T>A)
c.855T>A (p.Ser285=)
c.882T>A (p.Ser294=)
c.1737T>A (p.Ser579=)
c.1551T>A (p.Ser517=)
c.1470T>A (p.Ser490=)
c.1176T>A (p.Ser392=)
c.1557T>A (p.Ser519=)
2g.48687986delCA2576963396GTF2A1L,LHCGR,STON1-GTF2A1Lc.1811del (p.Ser604LeufsTer?)
c.*123del (n.*123del)
c.3441+16306del (n.3441+16306del)
c.*555del (n.*555del)
c.1730del (p.Ser577LeufsTer?)
c.276+16306del (n.276+16306del)
c.*220+6238del (n.*220+6238del)
c.854del (p.Ser285LeufsTer?)
c.881del (p.Ser294LeufsTer?)
c.1736del (p.Ser579LeufsTer?)
c.1550del (p.Ser517LeufsTer?)
c.1469del (p.Ser490LeufsTer?)
c.1175del (p.Ser392LeufsTer?)
c.1556del (p.Ser519LeufsTer?)
2g.48687986G>ACA346744405GTF2A1L,LHCGR,STON1-GTF2A1Lc.1811C>T (p.Ser604Phe)
c.*123C>T (n.*123C>T)
c.3441+16306G>A (n.3441+16306G>A)
c.*555C>T (n.*555C>T)
c.1730C>T (p.Ser577Phe)
c.276+16306G>A (n.276+16306G>A)
c.*220+6238C>T (n.*220+6238C>T)
c.854C>T (p.Ser285Phe)
c.881C>T (p.Ser294Phe)
c.1736C>T (p.Ser579Phe)
c.1550C>T (p.Ser517Phe)
c.1469C>T (p.Ser490Phe)
c.1175C>T (p.Ser392Phe)
c.1556C>T (p.Ser519Phe)
 gnomAD v4 COSMIC
2g.48687986G>CCA346744407GTF2A1L,LHCGR,STON1-GTF2A1Lc.1811C>G (p.Ser604Cys)
c.*123C>G (n.*123C>G)
c.3441+16306G>C (n.3441+16306G>C)
c.*555C>G (n.*555C>G)
c.1730C>G (p.Ser577Cys)
c.276+16306G>C (n.276+16306G>C)
c.*220+6238C>G (n.*220+6238C>G)
c.854C>G (p.Ser285Cys)
c.881C>G (p.Ser294Cys)
c.1736C>G (p.Ser579Cys)
c.1550C>G (p.Ser517Cys)
c.1469C>G (p.Ser490Cys)
c.1175C>G (p.Ser392Cys)
c.1556C>G (p.Ser519Cys)
2g.48687986G>TCA346744409GTF2A1L,LHCGR,STON1-GTF2A1Lc.1811C>A (p.Ser604Tyr)
c.*123C>A (n.*123C>A)
c.3441+16306G>T (n.3441+16306G>T)
c.*555C>A (n.*555C>A)
c.1730C>A (p.Ser577Tyr)
c.276+16306G>T (n.276+16306G>T)
c.*220+6238C>A (n.*220+6238C>A)
c.854C>A (p.Ser285Tyr)
c.881C>A (p.Ser294Tyr)
c.1736C>A (p.Ser579Tyr)
c.1550C>A (p.Ser517Tyr)
c.1469C>A (p.Ser490Tyr)
c.1175C>A (p.Ser392Tyr)
c.1556C>A (p.Ser519Tyr)
2g.48687987A=CA1248600935GTF2A1L,LHCGR,STON1-GTF2A1Lc.1810T= (p.Ser604=)
c.*122T= (n.*122T=)
c.3441+16307A= (n.3441+16307A=)
c.*554T= (n.*554T=)
c.1729T= (p.Ser577=)
c.276+16307A= (n.276+16307A=)
c.*220+6237T= (n.*220+6237T=)
c.853T= (p.Ser285=)
c.880T= (p.Ser294=)
c.1735T= (p.Ser579=)
c.1549T= (p.Ser517=)
c.1468T= (p.Ser490=)
c.1174T= (p.Ser392=)
c.1555T= (p.Ser519=)
2g.48687987A>CCA46752716GTF2A1L,LHCGR,STON1-GTF2A1Lc.1810T>G (p.Ser604Ala)
c.*122T>G (n.*122T>G)
c.3441+16307A>C (n.3441+16307A>C)
c.*554T>G (n.*554T>G)
c.1729T>G (p.Ser577Ala)
c.276+16307A>C (n.276+16307A>C)
c.*220+6237T>G (n.*220+6237T>G)
c.853T>G (p.Ser285Ala)
c.880T>G (p.Ser294Ala)
c.1735T>G (p.Ser579Ala)
c.1549T>G (p.Ser517Ala)
c.1468T>G (p.Ser490Ala)
c.1174T>G (p.Ser392Ala)
c.1555T>G (p.Ser519Ala)
 dbSNP
2g.48687987A>GCA346744415GTF2A1L,LHCGR,STON1-GTF2A1Lc.1810T>C (p.Ser604Pro)
c.*122T>C (n.*122T>C)
c.3441+16307A>G (n.3441+16307A>G)
c.*554T>C (n.*554T>C)
c.1729T>C (p.Ser577Pro)
c.276+16307A>G (n.276+16307A>G)
c.*220+6237T>C (n.*220+6237T>C)
c.853T>C (p.Ser285Pro)
c.880T>C (p.Ser294Pro)
c.1735T>C (p.Ser579Pro)
c.1549T>C (p.Ser517Pro)
c.1468T>C (p.Ser490Pro)
c.1174T>C (p.Ser392Pro)
c.1555T>C (p.Ser519Pro)
2g.48687987A>TCA346744416GTF2A1L,LHCGR,STON1-GTF2A1Lc.1810T>A (p.Ser604Thr)
c.*122T>A (n.*122T>A)
c.3441+16307A>T (n.3441+16307A>T)
c.*554T>A (n.*554T>A)
c.1729T>A (p.Ser577Thr)
c.276+16307A>T (n.276+16307A>T)
c.*220+6237T>A (n.*220+6237T>A)
c.853T>A (p.Ser285Thr)
c.880T>A (p.Ser294Thr)
c.1735T>A (p.Ser579Thr)
c.1549T>A (p.Ser517Thr)
c.1468T>A (p.Ser490Thr)
c.1174T>A (p.Ser392Thr)
c.1555T>A (p.Ser519Thr)
2g.48687988G>ACA426125694GTF2A1L,LHCGR,STON1-GTF2A1Lc.1809C>T (p.Asn603=)
c.*121C>T (n.*121C>T)
c.3441+16308G>A (n.3441+16308G>A)
c.*553C>T (n.*553C>T)
c.1728C>T (p.Asn576=)
c.276+16308G>A (n.276+16308G>A)
c.*220+6236C>T (n.*220+6236C>T)
c.852C>T (p.Asn284=)
c.879C>T (p.Asn293=)
c.1734C>T (p.Asn578=)
c.1548C>T (p.Asn516=)
c.1467C>T (p.Asn489=)
c.1173C>T (p.Asn391=)
c.1554C>T (p.Asn518=)
2g.48687988G>CCA346744418GTF2A1L,LHCGR,STON1-GTF2A1Lc.1809C>G (p.Asn603Lys)
c.*121C>G (n.*121C>G)
c.3441+16308G>C (n.3441+16308G>C)
c.*553C>G (n.*553C>G)
c.1728C>G (p.Asn576Lys)
c.276+16308G>C (n.276+16308G>C)
c.*220+6236C>G (n.*220+6236C>G)
c.852C>G (p.Asn284Lys)
c.879C>G (p.Asn293Lys)
c.1734C>G (p.Asn578Lys)
c.1548C>G (p.Asn516Lys)
c.1467C>G (p.Asn489Lys)
c.1173C>G (p.Asn391Lys)
c.1554C>G (p.Asn518Lys)
2g.48687988G>TCA346744420GTF2A1L,LHCGR,STON1-GTF2A1Lc.1809C>A (p.Asn603Lys)
c.*121C>A (n.*121C>A)
c.3441+16308G>T (n.3441+16308G>T)
c.*553C>A (n.*553C>A)
c.1728C>A (p.Asn576Lys)
c.276+16308G>T (n.276+16308G>T)
c.*220+6236C>A (n.*220+6236C>A)
c.852C>A (p.Asn284Lys)
c.879C>A (p.Asn293Lys)
c.1734C>A (p.Asn578Lys)
c.1548C>A (p.Asn516Lys)
c.1467C>A (p.Asn489Lys)
c.1173C>A (p.Asn391Lys)
c.1554C>A (p.Asn518Lys)
2g.48687989T>ACA346744421GTF2A1L,LHCGR,STON1-GTF2A1Lc.1808A>T (p.Asn603Ile)
c.*120A>T (n.*120A>T)
c.3441+16309T>A (n.3441+16309T>A)
c.*552A>T (n.*552A>T)
c.1727A>T (p.Asn576Ile)
c.276+16309T>A (n.276+16309T>A)
c.*220+6235A>T (n.*220+6235A>T)
c.851A>T (p.Asn284Ile)
c.878A>T (p.Asn293Ile)
c.1733A>T (p.Asn578Ile)
c.1547A>T (p.Asn516Ile)
c.1466A>T (p.Asn489Ile)
c.1172A>T (p.Asn391Ile)
c.1553A>T (p.Asn518Ile)
2g.48687989T>CCA346744424GTF2A1L,LHCGR,STON1-GTF2A1Lc.1808A>G (p.Asn603Ser)
c.*120A>G (n.*120A>G)
c.3441+16309T>C (n.3441+16309T>C)
c.*552A>G (n.*552A>G)
c.1727A>G (p.Asn576Ser)
c.276+16309T>C (n.276+16309T>C)
c.*220+6235A>G (n.*220+6235A>G)
c.851A>G (p.Asn284Ser)
c.878A>G (p.Asn293Ser)
c.1733A>G (p.Asn578Ser)
c.1547A>G (p.Asn516Ser)
c.1466A>G (p.Asn489Ser)
c.1172A>G (p.Asn391Ser)
c.1553A>G (p.Asn518Ser)
 gnomAD v4
2g.48687989T>GCA346744425GTF2A1L,LHCGR,STON1-GTF2A1Lc.1808A>C (p.Asn603Thr)
c.*120A>C (n.*120A>C)
c.3441+16309T>G (n.3441+16309T>G)
c.*552A>C (n.*552A>C)
c.1727A>C (p.Asn576Thr)
c.276+16309T>G (n.276+16309T>G)
c.*220+6235A>C (n.*220+6235A>C)
c.851A>C (p.Asn284Thr)
c.878A>C (p.Asn293Thr)
c.1733A>C (p.Asn578Thr)
c.1547A>C (p.Asn516Thr)
c.1466A>C (p.Asn489Thr)
c.1172A>C (p.Asn391Thr)
c.1553A>C (p.Asn518Thr)
 dbSNP
2g.48687989T=CA1248600936GTF2A1L,LHCGR,STON1-GTF2A1Lc.1808A= (p.Asn603=)
c.*120A= (n.*120A=)
c.3441+16309T= (n.3441+16309T=)
c.*552A= (n.*552A=)
c.1727A= (p.Asn576=)
c.276+16309T= (n.276+16309T=)
c.*220+6235A= (n.*220+6235A=)
c.851A= (p.Asn284=)
c.878A= (p.Asn293=)
c.1733A= (p.Asn578=)
c.1547A= (p.Asn516=)
c.1466A= (p.Asn489=)
c.1172A= (p.Asn391=)
c.1553A= (p.Asn518=)
2g.48687990T>ACA346744433GTF2A1L,LHCGR,STON1-GTF2A1Lc.1807A>T (p.Asn603Tyr)
c.*119A>T (n.*119A>T)
c.3441+16310T>A (n.3441+16310T>A)
c.*551A>T (n.*551A>T)
c.1726A>T (p.Asn576Tyr)
c.276+16310T>A (n.276+16310T>A)
c.*220+6234A>T (n.*220+6234A>T)
c.850A>T (p.Asn284Tyr)
c.877A>T (p.Asn293Tyr)
c.1732A>T (p.Asn578Tyr)
c.1546A>T (p.Asn516Tyr)
c.1465A>T (p.Asn489Tyr)
c.1171A>T (p.Asn391Tyr)
c.1552A>T (p.Asn518Tyr)
2g.48687990T>CCA346744430GTF2A1L,LHCGR,STON1-GTF2A1Lc.1807A>G (p.Asn603Asp)
c.*119A>G (n.*119A>G)
c.3441+16310T>C (n.3441+16310T>C)
c.*551A>G (n.*551A>G)
c.1726A>G (p.Asn576Asp)
c.276+16310T>C (n.276+16310T>C)
c.*220+6234A>G (n.*220+6234A>G)
c.850A>G (p.Asn284Asp)
c.877A>G (p.Asn293Asp)
c.1732A>G (p.Asn578Asp)
c.1546A>G (p.Asn516Asp)
c.1465A>G (p.Asn489Asp)
c.1171A>G (p.Asn391Asp)
c.1552A>G (p.Asn518Asp)
2g.48687990T>GCA346744428GTF2A1L,LHCGR,STON1-GTF2A1Lc.1807A>C (p.Asn603His)
c.*119A>C (n.*119A>C)
c.3441+16310T>G (n.3441+16310T>G)
c.*551A>C (n.*551A>C)
c.1726A>C (p.Asn576His)
c.276+16310T>G (n.276+16310T>G)
c.*220+6234A>C (n.*220+6234A>C)
c.850A>C (p.Asn284His)
c.877A>C (p.Asn293His)
c.1732A>C (p.Asn578His)
c.1546A>C (p.Asn516His)
c.1465A>C (p.Asn489His)
c.1171A>C (p.Asn391His)
c.1552A>C (p.Asn518His)
2g.48687991G>ACA426125699GTF2A1L,LHCGR,STON1-GTF2A1Lc.1806C>T (p.Thr602=)
c.*118C>T (n.*118C>T)
c.3441+16311G>A (n.3441+16311G>A)
c.*550C>T (n.*550C>T)
c.1725C>T (p.Thr575=)
c.276+16311G>A (n.276+16311G>A)
c.*220+6233C>T (n.*220+6233C>T)
c.849C>T (p.Thr283=)
c.876C>T (p.Thr292=)
c.1731C>T (p.Thr577=)
c.1545C>T (p.Thr515=)
c.1464C>T (p.Thr488=)
c.1170C>T (p.Thr390=)
c.1551C>T (p.Thr517=)
 dbSNP gnomAD v2
2g.48687991G>CCA426125700GTF2A1L,LHCGR,STON1-GTF2A1Lc.1806C>G (p.Thr602=)
c.*118C>G (n.*118C>G)
c.3441+16311G>C (n.3441+16311G>C)
c.*550C>G (n.*550C>G)
c.1725C>G (p.Thr575=)
c.276+16311G>C (n.276+16311G>C)
c.*220+6233C>G (n.*220+6233C>G)
c.849C>G (p.Thr283=)
c.876C>G (p.Thr292=)
c.1731C>G (p.Thr577=)
c.1545C>G (p.Thr515=)
c.1464C>G (p.Thr488=)
c.1170C>G (p.Thr390=)
c.1551C>G (p.Thr517=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48687991G=CA1248600937GTF2A1L,LHCGR,STON1-GTF2A1Lc.1806C= (p.Thr602=)
c.*118C= (n.*118C=)
c.3441+16311G= (n.3441+16311G=)
c.*550C= (n.*550C=)
c.1725C= (p.Thr575=)
c.276+16311G= (n.276+16311G=)
c.*220+6233C= (n.*220+6233C=)
c.849C= (p.Thr283=)
c.876C= (p.Thr292=)
c.1731C= (p.Thr577=)
c.1545C= (p.Thr515=)
c.1464C= (p.Thr488=)
c.1170C= (p.Thr390=)
c.1551C= (p.Thr517=)
2g.48687991G>TCA426125701GTF2A1L,LHCGR,STON1-GTF2A1Lc.1806C>A (p.Thr602=)
c.*118C>A (n.*118C>A)
c.3441+16311G>T (n.3441+16311G>T)
c.*550C>A (n.*550C>A)
c.1725C>A (p.Thr575=)
c.276+16311G>T (n.276+16311G>T)
c.*220+6233C>A (n.*220+6233C>A)
c.849C>A (p.Thr283=)
c.876C>A (p.Thr292=)
c.1731C>A (p.Thr577=)
c.1545C>A (p.Thr515=)
c.1464C>A (p.Thr488=)
c.1170C>A (p.Thr390=)
c.1551C>A (p.Thr517=)
 dbSNP
2g.48687992G>ACA1652985GTF2A1L,LHCGR,STON1-GTF2A1Lc.1805C>T (p.Thr602Ile)
c.*117C>T (n.*117C>T)
c.3441+16312G>A (n.3441+16312G>A)
c.*549C>T (n.*549C>T)
c.1724C>T (p.Thr575Ile)
c.276+16312G>A (n.276+16312G>A)
c.*220+6232C>T (n.*220+6232C>T)
c.848C>T (p.Thr283Ile)
c.875C>T (p.Thr292Ile)
c.1730C>T (p.Thr577Ile)
c.1544C>T (p.Thr515Ile)
c.1463C>T (p.Thr488Ile)
c.1169C>T (p.Thr390Ile)
c.1550C>T (p.Thr517Ile)
 ClinVar dbSNP ExAC gnomAD v4
2g.48687992G>CCA346744435GTF2A1L,LHCGR,STON1-GTF2A1Lc.1805C>G (p.Thr602Ser)
c.*117C>G (n.*117C>G)
c.3441+16312G>C (n.3441+16312G>C)
c.*549C>G (n.*549C>G)
c.1724C>G (p.Thr575Ser)
c.276+16312G>C (n.276+16312G>C)
c.*220+6232C>G (n.*220+6232C>G)
c.848C>G (p.Thr283Ser)
c.875C>G (p.Thr292Ser)
c.1730C>G (p.Thr577Ser)
c.1544C>G (p.Thr515Ser)
c.1463C>G (p.Thr488Ser)
c.1169C>G (p.Thr390Ser)
c.1550C>G (p.Thr517Ser)
2g.48687992G=CA1248600938GTF2A1L,LHCGR,STON1-GTF2A1Lc.1805C= (p.Thr602=)
c.*117C= (n.*117C=)
c.3441+16312G= (n.3441+16312G=)
c.*549C= (n.*549C=)
c.1724C= (p.Thr575=)
c.276+16312G= (n.276+16312G=)
c.*220+6232C= (n.*220+6232C=)
c.848C= (p.Thr283=)
c.875C= (p.Thr292=)
c.1730C= (p.Thr577=)
c.1544C= (p.Thr515=)
c.1463C= (p.Thr488=)
c.1169C= (p.Thr390=)
c.1550C= (p.Thr517=)
2g.48687992G>TCA346744437GTF2A1L,LHCGR,STON1-GTF2A1Lc.1805C>A (p.Thr602Asn)
c.*117C>A (n.*117C>A)
c.3441+16312G>T (n.3441+16312G>T)
c.*549C>A (n.*549C>A)
c.1724C>A (p.Thr575Asn)
c.276+16312G>T (n.276+16312G>T)
c.*220+6232C>A (n.*220+6232C>A)
c.848C>A (p.Thr283Asn)
c.875C>A (p.Thr292Asn)
c.1730C>A (p.Thr577Asn)
c.1544C>A (p.Thr515Asn)
c.1463C>A (p.Thr488Asn)
c.1169C>A (p.Thr390Asn)
c.1550C>A (p.Thr517Asn)
 gnomAD v4
2g.48687993T>ACA346744441GTF2A1L,LHCGR,STON1-GTF2A1Lc.1804A>T (p.Thr602Ser)
c.*116A>T (n.*116A>T)
c.3441+16313T>A (n.3441+16313T>A)
c.*548A>T (n.*548A>T)
c.1723A>T (p.Thr575Ser)
c.276+16313T>A (n.276+16313T>A)
c.*220+6231A>T (n.*220+6231A>T)
c.847A>T (p.Thr283Ser)
c.874A>T (p.Thr292Ser)
c.1729A>T (p.Thr577Ser)
c.1543A>T (p.Thr515Ser)
c.1462A>T (p.Thr488Ser)
c.1168A>T (p.Thr390Ser)
c.1549A>T (p.Thr517Ser)
2g.48687993T>CCA346744443GTF2A1L,LHCGR,STON1-GTF2A1Lc.1804A>G (p.Thr602Ala)
c.*116A>G (n.*116A>G)
c.3441+16313T>C (n.3441+16313T>C)
c.*548A>G (n.*548A>G)
c.1723A>G (p.Thr575Ala)
c.276+16313T>C (n.276+16313T>C)
c.*220+6231A>G (n.*220+6231A>G)
c.847A>G (p.Thr283Ala)
c.874A>G (p.Thr292Ala)
c.1729A>G (p.Thr577Ala)
c.1543A>G (p.Thr515Ala)
c.1462A>G (p.Thr488Ala)
c.1168A>G (p.Thr390Ala)
c.1549A>G (p.Thr517Ala)
 gnomAD v4
2g.48687993T>GCA346744445GTF2A1L,LHCGR,STON1-GTF2A1Lc.1804A>C (p.Thr602Pro)
c.*116A>C (n.*116A>C)
c.3441+16313T>G (n.3441+16313T>G)
c.*548A>C (n.*548A>C)
c.1723A>C (p.Thr575Pro)
c.276+16313T>G (n.276+16313T>G)
c.*220+6231A>C (n.*220+6231A>C)
c.847A>C (p.Thr283Pro)
c.874A>C (p.Thr292Pro)
c.1729A>C (p.Thr577Pro)
c.1543A>C (p.Thr515Pro)
c.1462A>C (p.Thr488Pro)
c.1168A>C (p.Thr390Pro)
c.1549A>C (p.Thr517Pro)
2g.48687994T>ACA426125708GTF2A1L,LHCGR,STON1-GTF2A1Lc.1803A>T (p.Val601=)
c.*115A>T (n.*115A>T)
c.3441+16314T>A (n.3441+16314T>A)
c.*547A>T (n.*547A>T)
c.1722A>T (p.Val574=)
c.276+16314T>A (n.276+16314T>A)
c.*220+6230A>T (n.*220+6230A>T)
c.846A>T (p.Val282=)
c.873A>T (p.Val291=)
c.1728A>T (p.Val576=)
c.1542A>T (p.Val514=)
c.1461A>T (p.Val487=)
c.1167A>T (p.Val389=)
c.1548A>T (p.Val516=)
2g.48687994T>CCA426125709GTF2A1L,LHCGR,STON1-GTF2A1Lc.1803A>G (p.Val601=)
c.*115A>G (n.*115A>G)
c.3441+16314T>C (n.3441+16314T>C)
c.*547A>G (n.*547A>G)
c.1722A>G (p.Val574=)
c.276+16314T>C (n.276+16314T>C)
c.*220+6230A>G (n.*220+6230A>G)
c.846A>G (p.Val282=)
c.873A>G (p.Val291=)
c.1728A>G (p.Val576=)
c.1542A>G (p.Val514=)
c.1461A>G (p.Val487=)
c.1167A>G (p.Val389=)
c.1548A>G (p.Val516=)
2g.48687994T>GCA426125712GTF2A1L,LHCGR,STON1-GTF2A1Lc.1803A>C (p.Val601=)
c.*115A>C (n.*115A>C)
c.3441+16314T>G (n.3441+16314T>G)
c.*547A>C (n.*547A>C)
c.1722A>C (p.Val574=)
c.276+16314T>G (n.276+16314T>G)
c.*220+6230A>C (n.*220+6230A>C)
c.846A>C (p.Val282=)
c.873A>C (p.Val291=)
c.1728A>C (p.Val576=)
c.1542A>C (p.Val514=)
c.1461A>C (p.Val487=)
c.1167A>C (p.Val389=)
c.1548A>C (p.Val516=)
2g.48687995A>CCA346744446GTF2A1L,LHCGR,STON1-GTF2A1Lc.1802T>G (p.Val601Gly)
c.*114T>G (n.*114T>G)
c.3441+16315A>C (n.3441+16315A>C)
c.*546T>G (n.*546T>G)
c.1721T>G (p.Val574Gly)
c.276+16315A>C (n.276+16315A>C)
c.*220+6229T>G (n.*220+6229T>G)
c.845T>G (p.Val282Gly)
c.872T>G (p.Val291Gly)
c.1727T>G (p.Val576Gly)
c.1541T>G (p.Val514Gly)
c.1460T>G (p.Val487Gly)
c.1166T>G (p.Val389Gly)
c.1547T>G (p.Val516Gly)
2g.48687995A>GCA346744447GTF2A1L,LHCGR,STON1-GTF2A1Lc.1802T>C (p.Val601Ala)
c.*114T>C (n.*114T>C)
c.3441+16315A>G (n.3441+16315A>G)
c.*546T>C (n.*546T>C)
c.1721T>C (p.Val574Ala)
c.276+16315A>G (n.276+16315A>G)
c.*220+6229T>C (n.*220+6229T>C)
c.845T>C (p.Val282Ala)
c.872T>C (p.Val291Ala)
c.1727T>C (p.Val576Ala)
c.1541T>C (p.Val514Ala)
c.1460T>C (p.Val487Ala)
c.1166T>C (p.Val389Ala)
c.1547T>C (p.Val516Ala)
2g.48687995A>TCA346744448GTF2A1L,LHCGR,STON1-GTF2A1Lc.1802T>A (p.Val601Glu)
c.*114T>A (n.*114T>A)
c.3441+16315A>T (n.3441+16315A>T)
c.*546T>A (n.*546T>A)
c.1721T>A (p.Val574Glu)
c.276+16315A>T (n.276+16315A>T)
c.*220+6229T>A (n.*220+6229T>A)
c.845T>A (p.Val282Glu)
c.872T>A (p.Val291Glu)
c.1727T>A (p.Val576Glu)
c.1541T>A (p.Val514Glu)
c.1460T>A (p.Val487Glu)
c.1166T>A (p.Val389Glu)
c.1547T>A (p.Val516Glu)
 COSMIC
2g.48687996C>ACA346744449GTF2A1L,LHCGR,STON1-GTF2A1Lc.1801G>T (p.Val601Leu)
c.*113G>T (n.*113G>T)
c.3441+16316C>A (n.3441+16316C>A)
c.*545G>T (n.*545G>T)
c.1720G>T (p.Val574Leu)
c.276+16316C>A (n.276+16316C>A)
c.*220+6228G>T (n.*220+6228G>T)
c.844G>T (p.Val282Leu)
c.871G>T (p.Val291Leu)
c.1726G>T (p.Val576Leu)
c.1540G>T (p.Val514Leu)
c.1459G>T (p.Val487Leu)
c.1165G>T (p.Val389Leu)
c.1546G>T (p.Val516Leu)
2g.48687996C>GCA346744450GTF2A1L,LHCGR,STON1-GTF2A1Lc.1801G>C (p.Val601Leu)
c.*113G>C (n.*113G>C)
c.3441+16316C>G (n.3441+16316C>G)
c.*545G>C (n.*545G>C)
c.1720G>C (p.Val574Leu)
c.276+16316C>G (n.276+16316C>G)
c.*220+6228G>C (n.*220+6228G>C)
c.844G>C (p.Val282Leu)
c.871G>C (p.Val291Leu)
c.1726G>C (p.Val576Leu)
c.1540G>C (p.Val514Leu)
c.1459G>C (p.Val487Leu)
c.1165G>C (p.Val389Leu)
c.1546G>C (p.Val516Leu)
2g.48687996C>TCA346744452GTF2A1L,LHCGR,STON1-GTF2A1Lc.1801G>A (p.Val601Ile)
c.*113G>A (n.*113G>A)
c.3441+16316C>T (n.3441+16316C>T)
c.*545G>A (n.*545G>A)
c.1720G>A (p.Val574Ile)
c.276+16316C>T (n.276+16316C>T)
c.*220+6228G>A (n.*220+6228G>A)
c.844G>A (p.Val282Ile)
c.871G>A (p.Val291Ile)
c.1726G>A (p.Val576Ile)
c.1540G>A (p.Val514Ile)
c.1459G>A (p.Val487Ile)
c.1165G>A (p.Val389Ile)
c.1546G>A (p.Val516Ile)
2g.48687997T>ACA426125715GTF2A1L,LHCGR,STON1-GTF2A1Lc.1800A>T (p.Thr600=)
c.*112A>T (n.*112A>T)
c.3441+16317T>A (n.3441+16317T>A)
c.*544A>T (n.*544A>T)
c.1719A>T (p.Thr573=)
c.276+16317T>A (n.276+16317T>A)
c.*220+6227A>T (n.*220+6227A>T)
c.843A>T (p.Thr281=)
c.870A>T (p.Thr290=)
c.1725A>T (p.Thr575=)
c.1539A>T (p.Thr513=)
c.1458A>T (p.Thr486=)
c.1164A>T (p.Thr388=)
c.1545A>T (p.Thr515=)
2g.48687997T>CCA426125716GTF2A1L,LHCGR,STON1-GTF2A1Lc.1800A>G (p.Thr600=)
c.*112A>G (n.*112A>G)
c.3441+16317T>C (n.3441+16317T>C)
c.*544A>G (n.*544A>G)
c.1719A>G (p.Thr573=)
c.276+16317T>C (n.276+16317T>C)
c.*220+6227A>G (n.*220+6227A>G)
c.843A>G (p.Thr281=)
c.870A>G (p.Thr290=)
c.1725A>G (p.Thr575=)
c.1539A>G (p.Thr513=)
c.1458A>G (p.Thr486=)
c.1164A>G (p.Thr388=)
c.1545A>G (p.Thr515=)
 gnomAD v4
2g.48687997T>GCA426125719GTF2A1L,LHCGR,STON1-GTF2A1Lc.1800A>C (p.Thr600=)
c.*112A>C (n.*112A>C)
c.3441+16317T>G (n.3441+16317T>G)
c.*544A>C (n.*544A>C)
c.1719A>C (p.Thr573=)
c.276+16317T>G (n.276+16317T>G)
c.*220+6227A>C (n.*220+6227A>C)
c.843A>C (p.Thr281=)
c.870A>C (p.Thr290=)
c.1725A>C (p.Thr575=)
c.1539A>C (p.Thr513=)
c.1458A>C (p.Thr486=)
c.1164A>C (p.Thr388=)
c.1545A>C (p.Thr515=)
2g.48687998G>ACA1652986GTF2A1L,LHCGR,STON1-GTF2A1Lc.1799C>T (p.Thr600Ile)
c.*111C>T (n.*111C>T)
c.3441+16318G>A (n.3441+16318G>A)
c.*543C>T (n.*543C>T)
c.1718C>T (p.Thr573Ile)
c.276+16318G>A (n.276+16318G>A)
c.*220+6226C>T (n.*220+6226C>T)
c.842C>T (p.Thr281Ile)
c.869C>T (p.Thr290Ile)
c.1724C>T (p.Thr575Ile)
c.1538C>T (p.Thr513Ile)
c.1457C>T (p.Thr486Ile)
c.1163C>T (p.Thr388Ile)
c.1544C>T (p.Thr515Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687998G>CCA346744455GTF2A1L,LHCGR,STON1-GTF2A1Lc.1799C>G (p.Thr600Arg)
c.*111C>G (n.*111C>G)
c.3441+16318G>C (n.3441+16318G>C)
c.*543C>G (n.*543C>G)
c.1718C>G (p.Thr573Arg)
c.276+16318G>C (n.276+16318G>C)
c.*220+6226C>G (n.*220+6226C>G)
c.842C>G (p.Thr281Arg)
c.869C>G (p.Thr290Arg)
c.1724C>G (p.Thr575Arg)
c.1538C>G (p.Thr513Arg)
c.1457C>G (p.Thr486Arg)
c.1163C>G (p.Thr388Arg)
c.1544C>G (p.Thr515Arg)
2g.48687998G=CA1248600939GTF2A1L,LHCGR,STON1-GTF2A1Lc.1799C= (p.Thr600=)
c.*111C= (n.*111C=)
c.3441+16318G= (n.3441+16318G=)
c.*543C= (n.*543C=)
c.1718C= (p.Thr573=)
c.276+16318G= (n.276+16318G=)
c.*220+6226C= (n.*220+6226C=)
c.842C= (p.Thr281=)
c.869C= (p.Thr290=)
c.1724C= (p.Thr575=)
c.1538C= (p.Thr513=)
c.1457C= (p.Thr486=)
c.1163C= (p.Thr388=)
c.1544C= (p.Thr515=)
2g.48687998G>TCA346744454GTF2A1L,LHCGR,STON1-GTF2A1Lc.1799C>A (p.Thr600Lys)
c.*111C>A (n.*111C>A)
c.3441+16318G>T (n.3441+16318G>T)
c.*543C>A (n.*543C>A)
c.1718C>A (p.Thr573Lys)
c.276+16318G>T (n.276+16318G>T)
c.*220+6226C>A (n.*220+6226C>A)
c.842C>A (p.Thr281Lys)
c.869C>A (p.Thr290Lys)
c.1724C>A (p.Thr575Lys)
c.1538C>A (p.Thr513Lys)
c.1457C>A (p.Thr486Lys)
c.1163C>A (p.Thr388Lys)
c.1544C>A (p.Thr515Lys)
2g.48687999T>ACA346744456GTF2A1L,LHCGR,STON1-GTF2A1Lc.1798A>T (p.Thr600Ser)
c.*110A>T (n.*110A>T)
c.3441+16319T>A (n.3441+16319T>A)
c.*542A>T (n.*542A>T)
c.1717A>T (p.Thr573Ser)
c.276+16319T>A (n.276+16319T>A)
c.*220+6225A>T (n.*220+6225A>T)
c.841A>T (p.Thr281Ser)
c.868A>T (p.Thr290Ser)
c.1723A>T (p.Thr575Ser)
c.1537A>T (p.Thr513Ser)
c.1456A>T (p.Thr486Ser)
c.1162A>T (p.Thr388Ser)
c.1543A>T (p.Thr515Ser)
2g.48687999T>CCA346744459GTF2A1L,LHCGR,STON1-GTF2A1Lc.1798A>G (p.Thr600Ala)
c.*110A>G (n.*110A>G)
c.3441+16319T>C (n.3441+16319T>C)
c.*542A>G (n.*542A>G)
c.1717A>G (p.Thr573Ala)
c.276+16319T>C (n.276+16319T>C)
c.*220+6225A>G (n.*220+6225A>G)
c.841A>G (p.Thr281Ala)
c.868A>G (p.Thr290Ala)
c.1723A>G (p.Thr575Ala)
c.1537A>G (p.Thr513Ala)
c.1456A>G (p.Thr486Ala)
c.1162A>G (p.Thr388Ala)
c.1543A>G (p.Thr515Ala)
2g.48687999T>GCA346744457GTF2A1L,LHCGR,STON1-GTF2A1Lc.1798A>C (p.Thr600Pro)
c.*110A>C (n.*110A>C)
c.3441+16319T>G (n.3441+16319T>G)
c.*542A>C (n.*542A>C)
c.1717A>C (p.Thr573Pro)
c.276+16319T>G (n.276+16319T>G)
c.*220+6225A>C (n.*220+6225A>C)
c.841A>C (p.Thr281Pro)
c.868A>C (p.Thr290Pro)
c.1723A>C (p.Thr575Pro)
c.1537A>C (p.Thr513Pro)
c.1456A>C (p.Thr486Pro)
c.1162A>C (p.Thr388Pro)
c.1543A>C (p.Thr515Pro)
2g.48688000G>ACA426125728GTF2A1L,LHCGR,STON1-GTF2A1Lc.1797C>T (p.Ile599=)
c.*109C>T (n.*109C>T)
c.3441+16320G>A (n.3441+16320G>A)
c.*541C>T (n.*541C>T)
c.1716C>T (p.Ile572=)
c.276+16320G>A (n.276+16320G>A)
c.*220+6224C>T (n.*220+6224C>T)
c.840C>T (p.Ile280=)
c.867C>T (p.Ile289=)
c.1722C>T (p.Ile574=)
c.1536C>T (p.Ile512=)
c.1455C>T (p.Ile485=)
c.1161C>T (p.Ile387=)
c.1542C>T (p.Ile514=)
 gnomAD v4
2g.48688000G>CCA346744460GTF2A1L,LHCGR,STON1-GTF2A1Lc.1797C>G (p.Ile599Met)
c.*109C>G (n.*109C>G)
c.3441+16320G>C (n.3441+16320G>C)
c.*541C>G (n.*541C>G)
c.1716C>G (p.Ile572Met)
c.276+16320G>C (n.276+16320G>C)
c.*220+6224C>G (n.*220+6224C>G)
c.840C>G (p.Ile280Met)
c.867C>G (p.Ile289Met)
c.1722C>G (p.Ile574Met)
c.1536C>G (p.Ile512Met)
c.1455C>G (p.Ile485Met)
c.1161C>G (p.Ile387Met)
c.1542C>G (p.Ile514Met)
 gnomAD v4
2g.48688000G=CA1248600940GTF2A1L,LHCGR,STON1-GTF2A1Lc.1797C= (p.Ile599=)
c.*109C= (n.*109C=)
c.3441+16320G= (n.3441+16320G=)
c.*541C= (n.*541C=)
c.1716C= (p.Ile572=)
c.276+16320G= (n.276+16320G=)
c.*220+6224C= (n.*220+6224C=)
c.840C= (p.Ile280=)
c.867C= (p.Ile289=)
c.1722C= (p.Ile574=)
c.1536C= (p.Ile512=)
c.1455C= (p.Ile485=)
c.1161C= (p.Ile387=)
c.1542C= (p.Ile514=)
2g.48688000G>TCA1652987GTF2A1L,LHCGR,STON1-GTF2A1Lc.1797C>A (p.Ile599=)
c.*109C>A (n.*109C>A)
c.3441+16320G>T (n.3441+16320G>T)
c.*541C>A (n.*541C>A)
c.1716C>A (p.Ile572=)
c.276+16320G>T (n.276+16320G>T)
c.*220+6224C>A (n.*220+6224C>A)
c.840C>A (p.Ile280=)
c.867C>A (p.Ile289=)
c.1722C>A (p.Ile574=)
c.1536C>A (p.Ile512=)
c.1455C>A (p.Ile485=)
c.1161C>A (p.Ile387=)
c.1542C>A (p.Ile514=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688001A=CA1248600941GTF2A1L,LHCGR,STON1-GTF2A1Lc.1796T= (p.Ile599=)
c.*108T= (n.*108T=)
c.3441+16321A= (n.3441+16321A=)
c.*540T= (n.*540T=)
c.1715T= (p.Ile572=)
c.276+16321A= (n.276+16321A=)
c.*220+6223T= (n.*220+6223T=)
c.839T= (p.Ile280=)
c.866T= (p.Ile289=)
c.1721T= (p.Ile574=)
c.1535T= (p.Ile512=)
c.1454T= (p.Ile485=)
c.1160T= (p.Ile387=)
c.1541T= (p.Ile514=)
2g.48688001A>CCA346744465GTF2A1L,LHCGR,STON1-GTF2A1Lc.1796T>G (p.Ile599Ser)
c.*108T>G (n.*108T>G)
c.3441+16321A>C (n.3441+16321A>C)
c.*540T>G (n.*540T>G)
c.1715T>G (p.Ile572Ser)
c.276+16321A>C (n.276+16321A>C)
c.*220+6223T>G (n.*220+6223T>G)
c.839T>G (p.Ile280Ser)
c.866T>G (p.Ile289Ser)
c.1721T>G (p.Ile574Ser)
c.1535T>G (p.Ile512Ser)
c.1454T>G (p.Ile485Ser)
c.1160T>G (p.Ile387Ser)
c.1541T>G (p.Ile514Ser)
2g.48688001A>GCA346744467GTF2A1L,LHCGR,STON1-GTF2A1Lc.1796T>C (p.Ile599Thr)
c.*108T>C (n.*108T>C)
c.3441+16321A>G (n.3441+16321A>G)
c.*540T>C (n.*540T>C)
c.1715T>C (p.Ile572Thr)
c.276+16321A>G (n.276+16321A>G)
c.*220+6223T>C (n.*220+6223T>C)
c.839T>C (p.Ile280Thr)
c.866T>C (p.Ile289Thr)
c.1721T>C (p.Ile574Thr)
c.1535T>C (p.Ile512Thr)
c.1454T>C (p.Ile485Thr)
c.1160T>C (p.Ile387Thr)
c.1541T>C (p.Ile514Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.48688001A>TCA1652988GTF2A1L,LHCGR,STON1-GTF2A1Lc.1796T>A (p.Ile599Asn)
c.*108T>A (n.*108T>A)
c.3441+16321A>T (n.3441+16321A>T)
c.*540T>A (n.*540T>A)
c.1715T>A (p.Ile572Asn)
c.276+16321A>T (n.276+16321A>T)
c.*220+6223T>A (n.*220+6223T>A)
c.839T>A (p.Ile280Asn)
c.866T>A (p.Ile289Asn)
c.1721T>A (p.Ile574Asn)
c.1535T>A (p.Ile512Asn)
c.1454T>A (p.Ile485Asn)
c.1160T>A (p.Ile387Asn)
c.1541T>A (p.Ile514Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688002T>ACA346744471GTF2A1L,LHCGR,STON1-GTF2A1Lc.1795A>T (p.Ile599Phe)
c.*107A>T (n.*107A>T)
c.3441+16322T>A (n.3441+16322T>A)
c.*539A>T (n.*539A>T)
c.1714A>T (p.Ile572Phe)
c.276+16322T>A (n.276+16322T>A)
c.*220+6222A>T (n.*220+6222A>T)
c.838A>T (p.Ile280Phe)
c.865A>T (p.Ile289Phe)
c.1720A>T (p.Ile574Phe)
c.1534A>T (p.Ile512Phe)
c.1453A>T (p.Ile485Phe)
c.1159A>T (p.Ile387Phe)
c.1540A>T (p.Ile514Phe)
2g.48688002T>CCA346744474GTF2A1L,LHCGR,STON1-GTF2A1Lc.1795A>G (p.Ile599Val)
c.*107A>G (n.*107A>G)
c.3441+16322T>C (n.3441+16322T>C)
c.*539A>G (n.*539A>G)
c.1714A>G (p.Ile572Val)
c.276+16322T>C (n.276+16322T>C)
c.*220+6222A>G (n.*220+6222A>G)
c.838A>G (p.Ile280Val)
c.865A>G (p.Ile289Val)
c.1720A>G (p.Ile574Val)
c.1534A>G (p.Ile512Val)
c.1453A>G (p.Ile485Val)
c.1159A>G (p.Ile387Val)
c.1540A>G (p.Ile514Val)
 gnomAD v4
2g.48688002T>GCA346744481GTF2A1L,LHCGR,STON1-GTF2A1Lc.1795A>C (p.Ile599Leu)
c.*107A>C (n.*107A>C)
c.3441+16322T>G (n.3441+16322T>G)
c.*539A>C (n.*539A>C)
c.1714A>C (p.Ile572Leu)
c.276+16322T>G (n.276+16322T>G)
c.*220+6222A>C (n.*220+6222A>C)
c.838A>C (p.Ile280Leu)
c.865A>C (p.Ile289Leu)
c.1720A>C (p.Ile574Leu)
c.1534A>C (p.Ile512Leu)
c.1453A>C (p.Ile485Leu)
c.1159A>C (p.Ile387Leu)
c.1540A>C (p.Ile514Leu)
2g.48688003A>CCA426124883GTF2A1L,LHCGR,STON1-GTF2A1Lc.1794T>G (p.Leu598=)
c.*106T>G (n.*106T>G)
c.3441+16323A>C (n.3441+16323A>C)
c.*538T>G (n.*538T>G)
c.1713T>G (p.Leu571=)
c.276+16323A>C (n.276+16323A>C)
c.*220+6221T>G (n.*220+6221T>G)
c.837T>G (p.Leu279=)
c.864T>G (p.Leu288=)
c.1719T>G (p.Leu573=)
c.1533T>G (p.Leu511=)
c.1452T>G (p.Leu484=)
c.1158T>G (p.Leu386=)
c.1539T>G (p.Leu513=)
2g.48688003A>GCA426124885GTF2A1L,LHCGR,STON1-GTF2A1Lc.1794T>C (p.Leu598=)
c.*106T>C (n.*106T>C)
c.3441+16323A>G (n.3441+16323A>G)
c.*538T>C (n.*538T>C)
c.1713T>C (p.Leu571=)
c.276+16323A>G (n.276+16323A>G)
c.*220+6221T>C (n.*220+6221T>C)
c.837T>C (p.Leu279=)
c.864T>C (p.Leu288=)
c.1719T>C (p.Leu573=)
c.1533T>C (p.Leu511=)
c.1452T>C (p.Leu484=)
c.1158T>C (p.Leu386=)
c.1539T>C (p.Leu513=)
2g.48688003A>TCA426124884GTF2A1L,LHCGR,STON1-GTF2A1Lc.1794T>A (p.Leu598=)
c.*106T>A (n.*106T>A)
c.3441+16323A>T (n.3441+16323A>T)
c.*538T>A (n.*538T>A)
c.1713T>A (p.Leu571=)
c.276+16323A>T (n.276+16323A>T)
c.*220+6221T>A (n.*220+6221T>A)
c.837T>A (p.Leu279=)
c.864T>A (p.Leu288=)
c.1719T>A (p.Leu573=)
c.1533T>A (p.Leu511=)
c.1452T>A (p.Leu484=)
c.1158T>A (p.Leu386=)
c.1539T>A (p.Leu513=)
2g.48688004A>CCA346744487GTF2A1L,LHCGR,STON1-GTF2A1Lc.1793T>G (p.Leu598Arg)
c.*105T>G (n.*105T>G)
c.3441+16324A>C (n.3441+16324A>C)
c.*537T>G (n.*537T>G)
c.1712T>G (p.Leu571Arg)
c.276+16324A>C (n.276+16324A>C)
c.*220+6220T>G (n.*220+6220T>G)
c.836T>G (p.Leu279Arg)
c.863T>G (p.Leu288Arg)
c.1718T>G (p.Leu573Arg)
c.1532T>G (p.Leu511Arg)
c.1451T>G (p.Leu484Arg)
c.1157T>G (p.Leu386Arg)
c.1538T>G (p.Leu513Arg)
2g.48688004A>GCA346744490GTF2A1L,LHCGR,STON1-GTF2A1Lc.1793T>C (p.Leu598Pro)
c.*105T>C (n.*105T>C)
c.3441+16324A>G (n.3441+16324A>G)
c.*537T>C (n.*537T>C)
c.1712T>C (p.Leu571Pro)
c.276+16324A>G (n.276+16324A>G)
c.*220+6220T>C (n.*220+6220T>C)
c.836T>C (p.Leu279Pro)
c.863T>C (p.Leu288Pro)
c.1718T>C (p.Leu573Pro)
c.1532T>C (p.Leu511Pro)
c.1451T>C (p.Leu484Pro)
c.1157T>C (p.Leu386Pro)
c.1538T>C (p.Leu513Pro)
2g.48688004A>TCA346744492GTF2A1L,LHCGR,STON1-GTF2A1Lc.1793T>A (p.Leu598His)
c.*105T>A (n.*105T>A)
c.3441+16324A>T (n.3441+16324A>T)
c.*537T>A (n.*537T>A)
c.1712T>A (p.Leu571His)
c.276+16324A>T (n.276+16324A>T)
c.*220+6220T>A (n.*220+6220T>A)
c.836T>A (p.Leu279His)
c.863T>A (p.Leu288His)
c.1718T>A (p.Leu573His)
c.1532T>A (p.Leu511His)
c.1451T>A (p.Leu484His)
c.1157T>A (p.Leu386His)
c.1538T>A (p.Leu513His)
2g.48688005G>ACA346744499GTF2A1L,LHCGR,STON1-GTF2A1Lc.1792C>T (p.Leu598Phe)
c.*104C>T (n.*104C>T)
c.3441+16325G>A (n.3441+16325G>A)
c.*536C>T (n.*536C>T)
c.1711C>T (p.Leu571Phe)
c.276+16325G>A (n.276+16325G>A)
c.*220+6219C>T (n.*220+6219C>T)
c.835C>T (p.Leu279Phe)
c.862C>T (p.Leu288Phe)
c.1717C>T (p.Leu573Phe)
c.1531C>T (p.Leu511Phe)
c.1450C>T (p.Leu484Phe)
c.1156C>T (p.Leu386Phe)
c.1537C>T (p.Leu513Phe)
2g.48688005G>CCA346744494GTF2A1L,LHCGR,STON1-GTF2A1Lc.1792C>G (p.Leu598Val)
c.*104C>G (n.*104C>G)
c.3441+16325G>C (n.3441+16325G>C)
c.*536C>G (n.*536C>G)
c.1711C>G (p.Leu571Val)
c.276+16325G>C (n.276+16325G>C)
c.*220+6219C>G (n.*220+6219C>G)
c.835C>G (p.Leu279Val)
c.862C>G (p.Leu288Val)
c.1717C>G (p.Leu573Val)
c.1531C>G (p.Leu511Val)
c.1450C>G (p.Leu484Val)
c.1156C>G (p.Leu386Val)
c.1537C>G (p.Leu513Val)
2g.48688005G>TCA346744495GTF2A1L,LHCGR,STON1-GTF2A1Lc.1792C>A (p.Leu598Ile)
c.*104C>A (n.*104C>A)
c.3441+16325G>T (n.3441+16325G>T)
c.*536C>A (n.*536C>A)
c.1711C>A (p.Leu571Ile)
c.276+16325G>T (n.276+16325G>T)
c.*220+6219C>A (n.*220+6219C>A)
c.835C>A (p.Leu279Ile)
c.862C>A (p.Leu288Ile)
c.1717C>A (p.Leu573Ile)
c.1531C>A (p.Leu511Ile)
c.1450C>A (p.Leu484Ile)
c.1156C>A (p.Leu386Ile)
c.1537C>A (p.Leu513Ile)
2g.48688006A>CCA426124887GTF2A1L,LHCGR,STON1-GTF2A1Lc.1791T>G (p.Pro597=)
c.*103T>G (n.*103T>G)
c.3441+16326A>C (n.3441+16326A>C)
c.*535T>G (n.*535T>G)
c.1710T>G (p.Pro570=)
c.276+16326A>C (n.276+16326A>C)
c.*220+6218T>G (n.*220+6218T>G)
c.834T>G (p.Pro278=)
c.861T>G (p.Pro287=)
c.1716T>G (p.Pro572=)
c.1530T>G (p.Pro510=)
c.1449T>G (p.Pro483=)
c.1155T>G (p.Pro385=)
c.1536T>G (p.Pro512=)
2g.48688006A>GCA426124888GTF2A1L,LHCGR,STON1-GTF2A1Lc.1791T>C (p.Pro597=)
c.*103T>C (n.*103T>C)
c.3441+16326A>G (n.3441+16326A>G)
c.*535T>C (n.*535T>C)
c.1710T>C (p.Pro570=)
c.276+16326A>G (n.276+16326A>G)
c.*220+6218T>C (n.*220+6218T>C)
c.834T>C (p.Pro278=)
c.861T>C (p.Pro287=)
c.1716T>C (p.Pro572=)
c.1530T>C (p.Pro510=)
c.1449T>C (p.Pro483=)
c.1155T>C (p.Pro385=)
c.1536T>C (p.Pro512=)
2g.48688006A>TCA426124889GTF2A1L,LHCGR,STON1-GTF2A1Lc.1791T>A (p.Pro597=)
c.*103T>A (n.*103T>A)
c.3441+16326A>T (n.3441+16326A>T)
c.*535T>A (n.*535T>A)
c.1710T>A (p.Pro570=)
c.276+16326A>T (n.276+16326A>T)
c.*220+6218T>A (n.*220+6218T>A)
c.834T>A (p.Pro278=)
c.861T>A (p.Pro287=)
c.1716T>A (p.Pro572=)
c.1530T>A (p.Pro510=)
c.1449T>A (p.Pro483=)
c.1155T>A (p.Pro385=)
c.1536T>A (p.Pro512=)
2g.48688007G>ACA346744501GTF2A1L,LHCGR,STON1-GTF2A1Lc.1790C>T (p.Pro597Leu)
c.*102C>T (n.*102C>T)
c.3441+16327G>A (n.3441+16327G>A)
c.*534C>T (n.*534C>T)
c.1709C>T (p.Pro570Leu)
c.276+16327G>A (n.276+16327G>A)
c.*220+6217C>T (n.*220+6217C>T)
c.833C>T (p.Pro278Leu)
c.860C>T (p.Pro287Leu)
c.1715C>T (p.Pro572Leu)
c.1529C>T (p.Pro510Leu)
c.1448C>T (p.Pro483Leu)
c.1154C>T (p.Pro385Leu)
c.1535C>T (p.Pro512Leu)
 dbSNP
2g.48688007G>CCA346744504GTF2A1L,LHCGR,STON1-GTF2A1Lc.1790C>G (p.Pro597Arg)
c.*102C>G (n.*102C>G)
c.3441+16327G>C (n.3441+16327G>C)
c.*534C>G (n.*534C>G)
c.1709C>G (p.Pro570Arg)
c.276+16327G>C (n.276+16327G>C)
c.*220+6217C>G (n.*220+6217C>G)
c.833C>G (p.Pro278Arg)
c.860C>G (p.Pro287Arg)
c.1715C>G (p.Pro572Arg)
c.1529C>G (p.Pro510Arg)
c.1448C>G (p.Pro483Arg)
c.1154C>G (p.Pro385Arg)
c.1535C>G (p.Pro512Arg)
2g.48688007G=CA1248600942GTF2A1L,LHCGR,STON1-GTF2A1Lc.1790C= (p.Pro597=)
c.*102C= (n.*102C=)
c.3441+16327G= (n.3441+16327G=)
c.*534C= (n.*534C=)
c.1709C= (p.Pro570=)
c.276+16327G= (n.276+16327G=)
c.*220+6217C= (n.*220+6217C=)
c.833C= (p.Pro278=)
c.860C= (p.Pro287=)
c.1715C= (p.Pro572=)
c.1529C= (p.Pro510=)
c.1448C= (p.Pro483=)
c.1154C= (p.Pro385=)
c.1535C= (p.Pro512=)
2g.48688007G>TCA346744506GTF2A1L,LHCGR,STON1-GTF2A1Lc.1790C>A (p.Pro597His)
c.*102C>A (n.*102C>A)
c.3441+16327G>T (n.3441+16327G>T)
c.*534C>A (n.*534C>A)
c.1709C>A (p.Pro570His)
c.276+16327G>T (n.276+16327G>T)
c.*220+6217C>A (n.*220+6217C>A)
c.833C>A (p.Pro278His)
c.860C>A (p.Pro287His)
c.1715C>A (p.Pro572His)
c.1529C>A (p.Pro510His)
c.1448C>A (p.Pro483His)
c.1154C>A (p.Pro385His)
c.1535C>A (p.Pro512His)
 COSMIC
2g.48688008G>ACA346744508GTF2A1L,LHCGR,STON1-GTF2A1Lc.1789C>T (p.Pro597Ser)
c.*101C>T (n.*101C>T)
c.3441+16328G>A (n.3441+16328G>A)
c.*533C>T (n.*533C>T)
c.1708C>T (p.Pro570Ser)
c.276+16328G>A (n.276+16328G>A)
c.*220+6216C>T (n.*220+6216C>T)
c.832C>T (p.Pro278Ser)
c.859C>T (p.Pro287Ser)
c.1714C>T (p.Pro572Ser)
c.1528C>T (p.Pro510Ser)
c.1447C>T (p.Pro483Ser)
c.1153C>T (p.Pro385Ser)
c.1534C>T (p.Pro512Ser)
 dbSNP gnomAD v4
2g.48688008G>CCA346744512GTF2A1L,LHCGR,STON1-GTF2A1Lc.1789C>G (p.Pro597Ala)
c.*101C>G (n.*101C>G)
c.3441+16328G>C (n.3441+16328G>C)
c.*533C>G (n.*533C>G)
c.1708C>G (p.Pro570Ala)
c.276+16328G>C (n.276+16328G>C)
c.*220+6216C>G (n.*220+6216C>G)
c.832C>G (p.Pro278Ala)
c.859C>G (p.Pro287Ala)
c.1714C>G (p.Pro572Ala)
c.1528C>G (p.Pro510Ala)
c.1447C>G (p.Pro483Ala)
c.1153C>G (p.Pro385Ala)
c.1534C>G (p.Pro512Ala)
2g.48688008G=CA1248600943GTF2A1L,LHCGR,STON1-GTF2A1Lc.1789C= (p.Pro597=)
c.*101C= (n.*101C=)
c.3441+16328G= (n.3441+16328G=)
c.*533C= (n.*533C=)
c.1708C= (p.Pro570=)
c.276+16328G= (n.276+16328G=)
c.*220+6216C= (n.*220+6216C=)
c.832C= (p.Pro278=)
c.859C= (p.Pro287=)
c.1714C= (p.Pro572=)
c.1528C= (p.Pro510=)
c.1447C= (p.Pro483=)
c.1153C= (p.Pro385=)
c.1534C= (p.Pro512=)
2g.48688008G>TCA346744514GTF2A1L,LHCGR,STON1-GTF2A1Lc.1789C>A (p.Pro597Thr)
c.*101C>A (n.*101C>A)
c.3441+16328G>T (n.3441+16328G>T)
c.*533C>A (n.*533C>A)
c.1708C>A (p.Pro570Thr)
c.276+16328G>T (n.276+16328G>T)
c.*220+6216C>A (n.*220+6216C>A)
c.832C>A (p.Pro278Thr)
c.859C>A (p.Pro287Thr)
c.1714C>A (p.Pro572Thr)
c.1528C>A (p.Pro510Thr)
c.1447C>A (p.Pro483Thr)
c.1153C>A (p.Pro385Thr)
c.1534C>A (p.Pro512Thr)
2g.48688009T>ACA1652989GTF2A1L,LHCGR,STON1-GTF2A1Lc.1788A>T (p.Val596=)
c.*100A>T (n.*100A>T)
c.3441+16329T>A (n.3441+16329T>A)
c.*532A>T (n.*532A>T)
c.1707A>T (p.Val569=)
c.276+16329T>A (n.276+16329T>A)
c.*220+6215A>T (n.*220+6215A>T)
c.831A>T (p.Val277=)
c.858A>T (p.Val286=)
c.1713A>T (p.Val571=)
c.1527A>T (p.Val509=)
c.1446A>T (p.Val482=)
c.1152A>T (p.Val384=)
c.1533A>T (p.Val511=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688009T>CCA426124890GTF2A1L,LHCGR,STON1-GTF2A1Lc.1788A>G (p.Val596=)
c.*100A>G (n.*100A>G)
c.3441+16329T>C (n.3441+16329T>C)
c.*532A>G (n.*532A>G)
c.1707A>G (p.Val569=)
c.276+16329T>C (n.276+16329T>C)
c.*220+6215A>G (n.*220+6215A>G)
c.831A>G (p.Val277=)
c.858A>G (p.Val286=)
c.1713A>G (p.Val571=)
c.1527A>G (p.Val509=)
c.1446A>G (p.Val482=)
c.1152A>G (p.Val384=)
c.1533A>G (p.Val511=)
2g.48688009T>GCA426124891GTF2A1L,LHCGR,STON1-GTF2A1Lc.1788A>C (p.Val596=)
c.*100A>C (n.*100A>C)
c.3441+16329T>G (n.3441+16329T>G)
c.*532A>C (n.*532A>C)
c.1707A>C (p.Val569=)
c.276+16329T>G (n.276+16329T>G)
c.*220+6215A>C (n.*220+6215A>C)
c.831A>C (p.Val277=)
c.858A>C (p.Val286=)
c.1713A>C (p.Val571=)
c.1527A>C (p.Val509=)
c.1446A>C (p.Val482=)
c.1152A>C (p.Val384=)
c.1533A>C (p.Val511=)
2g.48688009T=CA1248600944GTF2A1L,LHCGR,STON1-GTF2A1Lc.1788A= (p.Val596=)
c.*100A= (n.*100A=)
c.3441+16329T= (n.3441+16329T=)
c.*532A= (n.*532A=)
c.1707A= (p.Val569=)
c.276+16329T= (n.276+16329T=)
c.*220+6215A= (n.*220+6215A=)
c.831A= (p.Val277=)
c.858A= (p.Val286=)
c.1713A= (p.Val571=)
c.1527A= (p.Val509=)
c.1446A= (p.Val482=)
c.1152A= (p.Val384=)
c.1533A= (p.Val511=)
2g.48688010A=CA1248600945GTF2A1L,LHCGR,STON1-GTF2A1Lc.1787T= (p.Val596=)
c.*99T= (n.*99T=)
c.3441+16330A= (n.3441+16330A=)
c.*531T= (n.*531T=)
c.1706T= (p.Val569=)
c.276+16330A= (n.276+16330A=)
c.*220+6214T= (n.*220+6214T=)
c.830T= (p.Val277=)
c.857T= (p.Val286=)
c.1712T= (p.Val571=)
c.1526T= (p.Val509=)
c.1445T= (p.Val482=)
c.1151T= (p.Val384=)
c.1532T= (p.Val511=)
2g.48688010A>CCA1652990GTF2A1L,LHCGR,STON1-GTF2A1Lc.1787T>G (p.Val596Gly)
c.*99T>G (n.*99T>G)
c.3441+16330A>C (n.3441+16330A>C)
c.*531T>G (n.*531T>G)
c.1706T>G (p.Val569Gly)
c.276+16330A>C (n.276+16330A>C)
c.*220+6214T>G (n.*220+6214T>G)
c.830T>G (p.Val277Gly)
c.857T>G (p.Val286Gly)
c.1712T>G (p.Val571Gly)
c.1526T>G (p.Val509Gly)
c.1445T>G (p.Val482Gly)
c.1151T>G (p.Val384Gly)
c.1532T>G (p.Val511Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688010A>GCA346744518GTF2A1L,LHCGR,STON1-GTF2A1Lc.1787T>C (p.Val596Ala)
c.*99T>C (n.*99T>C)
c.3441+16330A>G (n.3441+16330A>G)
c.*531T>C (n.*531T>C)
c.1706T>C (p.Val569Ala)
c.276+16330A>G (n.276+16330A>G)
c.*220+6214T>C (n.*220+6214T>C)
c.830T>C (p.Val277Ala)
c.857T>C (p.Val286Ala)
c.1712T>C (p.Val571Ala)
c.1526T>C (p.Val509Ala)
c.1445T>C (p.Val482Ala)
c.1151T>C (p.Val384Ala)
c.1532T>C (p.Val511Ala)
 gnomAD v4
2g.48688010A>TCA346744520GTF2A1L,LHCGR,STON1-GTF2A1Lc.1787T>A (p.Val596Glu)
c.*99T>A (n.*99T>A)
c.3441+16330A>T (n.3441+16330A>T)
c.*531T>A (n.*531T>A)
c.1706T>A (p.Val569Glu)
c.276+16330A>T (n.276+16330A>T)
c.*220+6214T>A (n.*220+6214T>A)
c.830T>A (p.Val277Glu)
c.857T>A (p.Val286Glu)
c.1712T>A (p.Val571Glu)
c.1526T>A (p.Val509Glu)
c.1445T>A (p.Val482Glu)
c.1151T>A (p.Val384Glu)
c.1532T>A (p.Val511Glu)
2g.48688011C>ACA46752743GTF2A1L,LHCGR,STON1-GTF2A1Lc.1786G>T (p.Val596Leu)
c.*98G>T (n.*98G>T)
c.3441+16331C>A (n.3441+16331C>A)
c.*530G>T (n.*530G>T)
c.1705G>T (p.Val569Leu)
c.276+16331C>A (n.276+16331C>A)
c.*220+6213G>T (n.*220+6213G>T)
c.829G>T (p.Val277Leu)
c.856G>T (p.Val286Leu)
c.1711G>T (p.Val571Leu)
c.1525G>T (p.Val509Leu)
c.1444G>T (p.Val482Leu)
c.1150G>T (p.Val384Leu)
c.1531G>T (p.Val511Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688011C=CA1248600946GTF2A1L,LHCGR,STON1-GTF2A1Lc.1786G= (p.Val596=)
c.*98G= (n.*98G=)
c.3441+16331C= (n.3441+16331C=)
c.*530G= (n.*530G=)
c.1705G= (p.Val569=)
c.276+16331C= (n.276+16331C=)
c.*220+6213G= (n.*220+6213G=)
c.829G= (p.Val277=)
c.856G= (p.Val286=)
c.1711G= (p.Val571=)
c.1525G= (p.Val509=)
c.1444G= (p.Val482=)
c.1150G= (p.Val384=)
c.1531G= (p.Val511=)
2g.48688011C>GCA346744524GTF2A1L,LHCGR,STON1-GTF2A1Lc.1786G>C (p.Val596Leu)
c.*98G>C (n.*98G>C)
c.3441+16331C>G (n.3441+16331C>G)
c.*530G>C (n.*530G>C)
c.1705G>C (p.Val569Leu)
c.276+16331C>G (n.276+16331C>G)
c.*220+6213G>C (n.*220+6213G>C)
c.829G>C (p.Val277Leu)
c.856G>C (p.Val286Leu)
c.1711G>C (p.Val571Leu)
c.1525G>C (p.Val509Leu)
c.1444G>C (p.Val482Leu)
c.1150G>C (p.Val384Leu)
c.1531G>C (p.Val511Leu)
2g.48688011C>TCA346744523GTF2A1L,LHCGR,STON1-GTF2A1Lc.1786G>A (p.Val596Ile)
c.*98G>A (n.*98G>A)
c.3441+16331C>T (n.3441+16331C>T)
c.*530G>A (n.*530G>A)
c.1705G>A (p.Val569Ile)
c.276+16331C>T (n.276+16331C>T)
c.*220+6213G>A (n.*220+6213G>A)
c.829G>A (p.Val277Ile)
c.856G>A (p.Val286Ile)
c.1711G>A (p.Val571Ile)
c.1525G>A (p.Val509Ile)
c.1444G>A (p.Val482Ile)
c.1150G>A (p.Val384Ile)
c.1531G>A (p.Val511Ile)
 gnomAD v4
2g.48688012T>ACA346744525GTF2A1L,LHCGR,STON1-GTF2A1Lc.1785A>T (p.Lys595Asn)
c.*97A>T (n.*97A>T)
c.3441+16332T>A (n.3441+16332T>A)
c.*529A>T (n.*529A>T)
c.1704A>T (p.Lys568Asn)
c.276+16332T>A (n.276+16332T>A)
c.*220+6212A>T (n.*220+6212A>T)
c.828A>T (p.Lys276Asn)
c.855A>T (p.Lys285Asn)
c.1710A>T (p.Lys570Asn)
c.1524A>T (p.Lys508Asn)
c.1443A>T (p.Lys481Asn)
c.1149A>T (p.Lys383Asn)
c.1530A>T (p.Lys510Asn)
2g.48688012T>CCA426124892GTF2A1L,LHCGR,STON1-GTF2A1Lc.1785A>G (p.Lys595=)
c.*97A>G (n.*97A>G)
c.3441+16332T>C (n.3441+16332T>C)
c.*529A>G (n.*529A>G)
c.1704A>G (p.Lys568=)
c.276+16332T>C (n.276+16332T>C)
c.*220+6212A>G (n.*220+6212A>G)
c.828A>G (p.Lys276=)
c.855A>G (p.Lys285=)
c.1710A>G (p.Lys570=)
c.1524A>G (p.Lys508=)
c.1443A>G (p.Lys481=)
c.1149A>G (p.Lys383=)
c.1530A>G (p.Lys510=)
 dbSNP gnomAD v3 gnomAD v4
2g.48688012T>GCA346744527GTF2A1L,LHCGR,STON1-GTF2A1Lc.1785A>C (p.Lys595Asn)
c.*97A>C (n.*97A>C)
c.3441+16332T>G (n.3441+16332T>G)
c.*529A>C (n.*529A>C)
c.1704A>C (p.Lys568Asn)
c.276+16332T>G (n.276+16332T>G)
c.*220+6212A>C (n.*220+6212A>C)
c.828A>C (p.Lys276Asn)
c.855A>C (p.Lys285Asn)
c.1710A>C (p.Lys570Asn)
c.1524A>C (p.Lys508Asn)
c.1443A>C (p.Lys481Asn)
c.1149A>C (p.Lys383Asn)
c.1530A>C (p.Lys510Asn)
2g.48688012T=CA1248600947GTF2A1L,LHCGR,STON1-GTF2A1Lc.1785A= (p.Lys595=)
c.*97A= (n.*97A=)
c.3441+16332T= (n.3441+16332T=)
c.*529A= (n.*529A=)
c.1704A= (p.Lys568=)
c.276+16332T= (n.276+16332T=)
c.*220+6212A= (n.*220+6212A=)
c.828A= (p.Lys276=)
c.855A= (p.Lys285=)
c.1710A= (p.Lys570=)
c.1524A= (p.Lys508=)
c.1443A= (p.Lys481=)
c.1149A= (p.Lys383=)
c.1530A= (p.Lys510=)
2g.48688013T>ACA346744530GTF2A1L,LHCGR,STON1-GTF2A1Lc.1784A>T (p.Lys595Ile)
c.*96A>T (n.*96A>T)
c.3441+16333T>A (n.3441+16333T>A)
c.*528A>T (n.*528A>T)
c.1703A>T (p.Lys568Ile)
c.276+16333T>A (n.276+16333T>A)
c.*220+6211A>T (n.*220+6211A>T)
c.827A>T (p.Lys276Ile)
c.854A>T (p.Lys285Ile)
c.1709A>T (p.Lys570Ile)
c.1523A>T (p.Lys508Ile)
c.1442A>T (p.Lys481Ile)
c.1148A>T (p.Lys383Ile)
c.1529A>T (p.Lys510Ile)
2g.48688013T>CCA346744533GTF2A1L,LHCGR,STON1-GTF2A1Lc.1784A>G (p.Lys595Arg)
c.*96A>G (n.*96A>G)
c.3441+16333T>C (n.3441+16333T>C)
c.*528A>G (n.*528A>G)
c.1703A>G (p.Lys568Arg)
c.276+16333T>C (n.276+16333T>C)
c.*220+6211A>G (n.*220+6211A>G)
c.827A>G (p.Lys276Arg)
c.854A>G (p.Lys285Arg)
c.1709A>G (p.Lys570Arg)
c.1523A>G (p.Lys508Arg)
c.1442A>G (p.Lys481Arg)
c.1148A>G (p.Lys383Arg)
c.1529A>G (p.Lys510Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.48688013T>GCA346744536GTF2A1L,LHCGR,STON1-GTF2A1Lc.1784A>C (p.Lys595Thr)
c.*96A>C (n.*96A>C)
c.3441+16333T>G (n.3441+16333T>G)
c.*528A>C (n.*528A>C)
c.1703A>C (p.Lys568Thr)
c.276+16333T>G (n.276+16333T>G)
c.*220+6211A>C (n.*220+6211A>C)
c.827A>C (p.Lys276Thr)
c.854A>C (p.Lys285Thr)
c.1709A>C (p.Lys570Thr)
c.1523A>C (p.Lys508Thr)
c.1442A>C (p.Lys481Thr)
c.1148A>C (p.Lys383Thr)
c.1529A>C (p.Lys510Thr)
2g.48688013T=CA1248600948GTF2A1L,LHCGR,STON1-GTF2A1Lc.1784A= (p.Lys595=)
c.*96A= (n.*96A=)
c.3441+16333T= (n.3441+16333T=)
c.*528A= (n.*528A=)
c.1703A= (p.Lys568=)
c.276+16333T= (n.276+16333T=)
c.*220+6211A= (n.*220+6211A=)
c.827A= (p.Lys276=)
c.854A= (p.Lys285=)
c.1709A= (p.Lys570=)
c.1523A= (p.Lys508=)
c.1442A= (p.Lys481=)
c.1148A= (p.Lys383=)
c.1529A= (p.Lys510=)
2g.48688014T>ACA346744539GTF2A1L,LHCGR,STON1-GTF2A1Lc.1783A>T (p.Lys595Ter)
c.*95A>T (n.*95A>T)
c.3441+16334T>A (n.3441+16334T>A)
c.*527A>T (n.*527A>T)
c.1702A>T (p.Lys568Ter)
c.276+16334T>A (n.276+16334T>A)
c.*220+6210A>T (n.*220+6210A>T)
c.826A>T (p.Lys276Ter)
c.853A>T (p.Lys285Ter)
c.1708A>T (p.Lys570Ter)
c.1522A>T (p.Lys508Ter)
c.1441A>T (p.Lys481Ter)
c.1147A>T (p.Lys383Ter)
c.1528A>T (p.Lys510Ter)
2g.48688014T>CCA346744541GTF2A1L,LHCGR,STON1-GTF2A1Lc.1783A>G (p.Lys595Glu)
c.*95A>G (n.*95A>G)
c.3441+16334T>C (n.3441+16334T>C)
c.*527A>G (n.*527A>G)
c.1702A>G (p.Lys568Glu)
c.276+16334T>C (n.276+16334T>C)
c.*220+6210A>G (n.*220+6210A>G)
c.826A>G (p.Lys276Glu)
c.853A>G (p.Lys285Glu)
c.1708A>G (p.Lys570Glu)
c.1522A>G (p.Lys508Glu)
c.1441A>G (p.Lys481Glu)
c.1147A>G (p.Lys383Glu)
c.1528A>G (p.Lys510Glu)
2g.48688014T>GCA346744544GTF2A1L,LHCGR,STON1-GTF2A1Lc.1783A>C (p.Lys595Gln)
c.*95A>C (n.*95A>C)
c.3441+16334T>G (n.3441+16334T>G)
c.*527A>C (n.*527A>C)
c.1702A>C (p.Lys568Gln)
c.276+16334T>G (n.276+16334T>G)
c.*220+6210A>C (n.*220+6210A>C)
c.826A>C (p.Lys276Gln)
c.853A>C (p.Lys285Gln)
c.1708A>C (p.Lys570Gln)
c.1522A>C (p.Lys508Gln)
c.1441A>C (p.Lys481Gln)
c.1147A>C (p.Lys383Gln)
c.1528A>C (p.Lys510Gln)
2g.48688015G>ACA426124893GTF2A1L,LHCGR,STON1-GTF2A1Lc.1782C>T (p.Phe594=)
c.*94C>T (n.*94C>T)
c.3441+16335G>A (n.3441+16335G>A)
c.*526C>T (n.*526C>T)
c.1701C>T (p.Phe567=)
c.276+16335G>A (n.276+16335G>A)
c.*220+6209C>T (n.*220+6209C>T)
c.825C>T (p.Phe275=)
c.852C>T (p.Phe284=)
c.1707C>T (p.Phe569=)
c.1521C>T (p.Phe507=)
c.1440C>T (p.Phe480=)
c.1146C>T (p.Phe382=)
c.1527C>T (p.Phe509=)
2g.48688015G>CCA346744547GTF2A1L,LHCGR,STON1-GTF2A1Lc.1782C>G (p.Phe594Leu)
c.*94C>G (n.*94C>G)
c.3441+16335G>C (n.3441+16335G>C)
c.*526C>G (n.*526C>G)
c.1701C>G (p.Phe567Leu)
c.276+16335G>C (n.276+16335G>C)
c.*220+6209C>G (n.*220+6209C>G)
c.825C>G (p.Phe275Leu)
c.852C>G (p.Phe284Leu)
c.1707C>G (p.Phe569Leu)
c.1521C>G (p.Phe507Leu)
c.1440C>G (p.Phe480Leu)
c.1146C>G (p.Phe382Leu)
c.1527C>G (p.Phe509Leu)
 dbSNP
2g.48688015G>TCA346744549GTF2A1L,LHCGR,STON1-GTF2A1Lc.1782C>A (p.Phe594Leu)
c.*94C>A (n.*94C>A)
c.3441+16335G>T (n.3441+16335G>T)
c.*526C>A (n.*526C>A)
c.1701C>A (p.Phe567Leu)
c.276+16335G>T (n.276+16335G>T)
c.*220+6209C>A (n.*220+6209C>A)
c.825C>A (p.Phe275Leu)
c.852C>A (p.Phe284Leu)
c.1707C>A (p.Phe569Leu)
c.1521C>A (p.Phe507Leu)
c.1440C>A (p.Phe480Leu)
c.1146C>A (p.Phe382Leu)
c.1527C>A (p.Phe509Leu)
2g.48688016A>CCA346744556GTF2A1L,LHCGR,STON1-GTF2A1Lc.1781T>G (p.Phe594Cys)
c.*93T>G (n.*93T>G)
c.3441+16336A>C (n.3441+16336A>C)
c.*525T>G (n.*525T>G)
c.1700T>G (p.Phe567Cys)
c.276+16336A>C (n.276+16336A>C)
c.*220+6208T>G (n.*220+6208T>G)
c.824T>G (p.Phe275Cys)
c.851T>G (p.Phe284Cys)
c.1706T>G (p.Phe569Cys)
c.1520T>G (p.Phe507Cys)
c.1439T>G (p.Phe480Cys)
c.1145T>G (p.Phe382Cys)
c.1526T>G (p.Phe509Cys)
2g.48688016A>GCA346744557GTF2A1L,LHCGR,STON1-GTF2A1Lc.1781T>C (p.Phe594Ser)
c.*93T>C (n.*93T>C)
c.3441+16336A>G (n.3441+16336A>G)
c.*525T>C (n.*525T>C)
c.1700T>C (p.Phe567Ser)
c.276+16336A>G (n.276+16336A>G)
c.*220+6208T>C (n.*220+6208T>C)
c.824T>C (p.Phe275Ser)
c.851T>C (p.Phe284Ser)
c.1706T>C (p.Phe569Ser)
c.1520T>C (p.Phe507Ser)
c.1439T>C (p.Phe480Ser)
c.1145T>C (p.Phe382Ser)
c.1526T>C (p.Phe509Ser)
2g.48688016A>TCA346744559GTF2A1L,LHCGR,STON1-GTF2A1Lc.1781T>A (p.Phe594Tyr)
c.*93T>A (n.*93T>A)
c.3441+16336A>T (n.3441+16336A>T)
c.*525T>A (n.*525T>A)
c.1700T>A (p.Phe567Tyr)
c.276+16336A>T (n.276+16336A>T)
c.*220+6208T>A (n.*220+6208T>A)
c.824T>A (p.Phe275Tyr)
c.851T>A (p.Phe284Tyr)
c.1706T>A (p.Phe569Tyr)
c.1520T>A (p.Phe507Tyr)
c.1439T>A (p.Phe480Tyr)
c.1145T>A (p.Phe382Tyr)
c.1526T>A (p.Phe509Tyr)
2g.48688017A>CCA346744566GTF2A1L,LHCGR,STON1-GTF2A1Lc.1780T>G (p.Phe594Val)
c.*92T>G (n.*92T>G)
c.3441+16337A>C (n.3441+16337A>C)
c.*524T>G (n.*524T>G)
c.1699T>G (p.Phe567Val)
c.276+16337A>C (n.276+16337A>C)
c.*220+6207T>G (n.*220+6207T>G)
c.823T>G (p.Phe275Val)
c.850T>G (p.Phe284Val)
c.1705T>G (p.Phe569Val)
c.1519T>G (p.Phe507Val)
c.1438T>G (p.Phe480Val)
c.1144T>G (p.Phe382Val)
c.1525T>G (p.Phe509Val)
2g.48688017A>GCA346744564GTF2A1L,LHCGR,STON1-GTF2A1Lc.1780T>C (p.Phe594Leu)
c.*92T>C (n.*92T>C)
c.3441+16337A>G (n.3441+16337A>G)
c.*524T>C (n.*524T>C)
c.1699T>C (p.Phe567Leu)
c.276+16337A>G (n.276+16337A>G)
c.*220+6207T>C (n.*220+6207T>C)
c.823T>C (p.Phe275Leu)
c.850T>C (p.Phe284Leu)
c.1705T>C (p.Phe569Leu)
c.1519T>C (p.Phe507Leu)
c.1438T>C (p.Phe480Leu)
c.1144T>C (p.Phe382Leu)
c.1525T>C (p.Phe509Leu)
2g.48688017A>TCA346744562GTF2A1L,LHCGR,STON1-GTF2A1Lc.1780T>A (p.Phe594Ile)
c.*92T>A (n.*92T>A)
c.3441+16337A>T (n.3441+16337A>T)
c.*524T>A (n.*524T>A)
c.1699T>A (p.Phe567Ile)
c.276+16337A>T (n.276+16337A>T)
c.*220+6207T>A (n.*220+6207T>A)
c.823T>A (p.Phe275Ile)
c.850T>A (p.Phe284Ile)
c.1705T>A (p.Phe569Ile)
c.1519T>A (p.Phe507Ile)
c.1438T>A (p.Phe480Ile)
c.1144T>A (p.Phe382Ile)
c.1525T>A (p.Phe509Ile)
2g.48688018G>ACA426124894GTF2A1L,LHCGR,STON1-GTF2A1Lc.1779C>T (p.Ala593=)
c.*91C>T (n.*91C>T)
c.3441+16338G>A (n.3441+16338G>A)
c.*523C>T (n.*523C>T)
c.1698C>T (p.Ala566=)
c.276+16338G>A (n.276+16338G>A)
c.*220+6206C>T (n.*220+6206C>T)
c.822C>T (p.Ala274=)
c.849C>T (p.Ala283=)
c.1704C>T (p.Ala568=)
c.1518C>T (p.Ala506=)
c.1437C>T (p.Ala479=)
c.1143C>T (p.Ala381=)
c.1524C>T (p.Ala508=)
2g.48688018G>CCA426124895GTF2A1L,LHCGR,STON1-GTF2A1Lc.1779C>G (p.Ala593=)
c.*91C>G (n.*91C>G)
c.3441+16338G>C (n.3441+16338G>C)
c.*523C>G (n.*523C>G)
c.1698C>G (p.Ala566=)
c.276+16338G>C (n.276+16338G>C)
c.*220+6206C>G (n.*220+6206C>G)
c.822C>G (p.Ala274=)
c.849C>G (p.Ala283=)
c.1704C>G (p.Ala568=)
c.1518C>G (p.Ala506=)
c.1437C>G (p.Ala479=)
c.1143C>G (p.Ala381=)
c.1524C>G (p.Ala508=)
2g.48688018G>TCA426124896GTF2A1L,LHCGR,STON1-GTF2A1Lc.1779C>A (p.Ala593=)
c.*91C>A (n.*91C>A)
c.3441+16338G>T (n.3441+16338G>T)
c.*523C>A (n.*523C>A)
c.1698C>A (p.Ala566=)
c.276+16338G>T (n.276+16338G>T)
c.*220+6206C>A (n.*220+6206C>A)
c.822C>A (p.Ala274=)
c.849C>A (p.Ala283=)
c.1704C>A (p.Ala568=)
c.1518C>A (p.Ala506=)
c.1437C>A (p.Ala479=)
c.1143C>A (p.Ala381=)
c.1524C>A (p.Ala508=)
2g.48688019G>ACA346744568GTF2A1L,LHCGR,STON1-GTF2A1Lc.1778C>T (p.Ala593Val)
c.*90C>T (n.*90C>T)
c.3441+16339G>A (n.3441+16339G>A)
c.*522C>T (n.*522C>T)
c.1697C>T (p.Ala566Val)
c.276+16339G>A (n.276+16339G>A)
c.*220+6205C>T (n.*220+6205C>T)
c.821C>T (p.Ala274Val)
c.848C>T (p.Ala283Val)
c.1703C>T (p.Ala568Val)
c.1517C>T (p.Ala506Val)
c.1436C>T (p.Ala479Val)
c.1142C>T (p.Ala381Val)
c.1523C>T (p.Ala508Val)
 dbSNP
2g.48688019G>CCA346744569GTF2A1L,LHCGR,STON1-GTF2A1Lc.1778C>G (p.Ala593Gly)
c.*90C>G (n.*90C>G)
c.3441+16339G>C (n.3441+16339G>C)
c.*522C>G (n.*522C>G)
c.1697C>G (p.Ala566Gly)
c.276+16339G>C (n.276+16339G>C)
c.*220+6205C>G (n.*220+6205C>G)
c.821C>G (p.Ala274Gly)
c.848C>G (p.Ala283Gly)
c.1703C>G (p.Ala568Gly)
c.1517C>G (p.Ala506Gly)
c.1436C>G (p.Ala479Gly)
c.1142C>G (p.Ala381Gly)
c.1523C>G (p.Ala508Gly)
2g.48688019G=CA1248600949GTF2A1L,LHCGR,STON1-GTF2A1Lc.1778C= (p.Ala593=)
c.*90C= (n.*90C=)
c.3441+16339G= (n.3441+16339G=)
c.*522C= (n.*522C=)
c.1697C= (p.Ala566=)
c.276+16339G= (n.276+16339G=)
c.*220+6205C= (n.*220+6205C=)
c.821C= (p.Ala274=)
c.848C= (p.Ala283=)
c.1703C= (p.Ala568=)
c.1517C= (p.Ala506=)
c.1436C= (p.Ala479=)
c.1142C= (p.Ala381=)
c.1523C= (p.Ala508=)
2g.48688019G>TCA346744570GTF2A1L,LHCGR,STON1-GTF2A1Lc.1778C>A (p.Ala593Asp)
c.*90C>A (n.*90C>A)
c.3441+16339G>T (n.3441+16339G>T)
c.*522C>A (n.*522C>A)
c.1697C>A (p.Ala566Asp)
c.276+16339G>T (n.276+16339G>T)
c.*220+6205C>A (n.*220+6205C>A)
c.821C>A (p.Ala274Asp)
c.848C>A (p.Ala283Asp)
c.1703C>A (p.Ala568Asp)
c.1517C>A (p.Ala506Asp)
c.1436C>A (p.Ala479Asp)
c.1142C>A (p.Ala381Asp)
c.1523C>A (p.Ala508Asp)
 dbSNP gnomAD v4
2g.48688020C>ACA346744575GTF2A1L,LHCGR,STON1-GTF2A1Lc.1777G>T (p.Ala593Ser)
c.*89G>T (n.*89G>T)
c.3441+16340C>A (n.3441+16340C>A)
c.*521G>T (n.*521G>T)
c.1696G>T (p.Ala566Ser)
c.276+16340C>A (n.276+16340C>A)
c.*220+6204G>T (n.*220+6204G>T)
c.820G>T (p.Ala274Ser)
c.847G>T (p.Ala283Ser)
c.1702G>T (p.Ala568Ser)
c.1516G>T (p.Ala506Ser)
c.1435G>T (p.Ala479Ser)
c.1141G>T (p.Ala381Ser)
c.1522G>T (p.Ala508Ser)
2g.48688020C=CA1248600950GTF2A1L,LHCGR,STON1-GTF2A1Lc.1777G= (p.Ala593=)
c.*89G= (n.*89G=)
c.3441+16340C= (n.3441+16340C=)
c.*521G= (n.*521G=)
c.1696G= (p.Ala566=)
c.276+16340C= (n.276+16340C=)
c.*220+6204G= (n.*220+6204G=)
c.820G= (p.Ala274=)
c.847G= (p.Ala283=)
c.1702G= (p.Ala568=)
c.1516G= (p.Ala506=)
c.1435G= (p.Ala479=)
c.1141G= (p.Ala381=)
c.1522G= (p.Ala508=)
2g.48688020C>GCA123918GTF2A1L,LHCGR,STON1-GTF2A1Lc.1777G>C (p.Ala593Pro)
c.*89G>C (n.*89G>C)
c.3441+16340C>G (n.3441+16340C>G)
c.*521G>C (n.*521G>C)
c.1696G>C (p.Ala566Pro)
c.276+16340C>G (n.276+16340C>G)
c.*220+6204G>C (n.*220+6204G>C)
c.820G>C (p.Ala274Pro)
c.847G>C (p.Ala283Pro)
c.1702G>C (p.Ala568Pro)
c.1516G>C (p.Ala506Pro)
c.1435G>C (p.Ala479Pro)
c.1141G>C (p.Ala381Pro)
c.1522G>C (p.Ala508Pro)
 ClinVar dbSNP
2g.48688020C>TCA346744582GTF2A1L,LHCGR,STON1-GTF2A1Lc.1777G>A (p.Ala593Thr)
c.*89G>A (n.*89G>A)
c.3441+16340C>T (n.3441+16340C>T)
c.*521G>A (n.*521G>A)
c.1696G>A (p.Ala566Thr)
c.276+16340C>T (n.276+16340C>T)
c.*220+6204G>A (n.*220+6204G>A)
c.820G>A (p.Ala274Thr)
c.847G>A (p.Ala283Thr)
c.1702G>A (p.Ala568Thr)
c.1516G>A (p.Ala506Thr)
c.1435G>A (p.Ala479Thr)
c.1141G>A (p.Ala381Thr)
c.1522G>A (p.Ala508Thr)
2g.48688021A=CA1248600951GTF2A1L,LHCGR,STON1-GTF2A1Lc.1776T= (p.Ala592=)
c.*88T= (n.*88T=)
c.3441+16341A= (n.3441+16341A=)
c.*520T= (n.*520T=)
c.1695T= (p.Ala565=)
c.276+16341A= (n.276+16341A=)
c.*220+6203T= (n.*220+6203T=)
c.819T= (p.Ala273=)
c.846T= (p.Ala282=)
c.1701T= (p.Ala567=)
c.1515T= (p.Ala505=)
c.1434T= (p.Ala478=)
c.1140T= (p.Ala380=)
c.1521T= (p.Ala507=)
2g.48688021A>CCA426124897GTF2A1L,LHCGR,STON1-GTF2A1Lc.1776T>G (p.Ala592=)
c.*88T>G (n.*88T>G)
c.3441+16341A>C (n.3441+16341A>C)
c.*520T>G (n.*520T>G)
c.1695T>G (p.Ala565=)
c.276+16341A>C (n.276+16341A>C)
c.*220+6203T>G (n.*220+6203T>G)
c.819T>G (p.Ala273=)
c.846T>G (p.Ala282=)
c.1701T>G (p.Ala567=)
c.1515T>G (p.Ala505=)
c.1434T>G (p.Ala478=)
c.1140T>G (p.Ala380=)
c.1521T>G (p.Ala507=)
2g.48688021A>GCA1652991GTF2A1L,LHCGR,STON1-GTF2A1Lc.1776T>C (p.Ala592=)
c.*88T>C (n.*88T>C)
c.3441+16341A>G (n.3441+16341A>G)
c.*520T>C (n.*520T>C)
c.1695T>C (p.Ala565=)
c.276+16341A>G (n.276+16341A>G)
c.*220+6203T>C (n.*220+6203T>C)
c.819T>C (p.Ala273=)
c.846T>C (p.Ala282=)
c.1701T>C (p.Ala567=)
c.1515T>C (p.Ala505=)
c.1434T>C (p.Ala478=)
c.1140T>C (p.Ala380=)
c.1521T>C (p.Ala507=)
 dbSNP ExAC gnomAD v2
2g.48688021A>TCA426124898GTF2A1L,LHCGR,STON1-GTF2A1Lc.1776T>A (p.Ala592=)
c.*88T>A (n.*88T>A)
c.3441+16341A>T (n.3441+16341A>T)
c.*520T>A (n.*520T>A)
c.1695T>A (p.Ala565=)
c.276+16341A>T (n.276+16341A>T)
c.*220+6203T>A (n.*220+6203T>A)
c.819T>A (p.Ala273=)
c.846T>A (p.Ala282=)
c.1701T>A (p.Ala567=)
c.1515T>A (p.Ala505=)
c.1434T>A (p.Ala478=)
c.1140T>A (p.Ala380=)
c.1521T>A (p.Ala507=)
2g.48688022G>ACA346744586GTF2A1L,LHCGR,STON1-GTF2A1Lc.1775C>T (p.Ala592Val)
c.*87C>T (n.*87C>T)
c.3441+16342G>A (n.3441+16342G>A)
c.*519C>T (n.*519C>T)
c.1694C>T (p.Ala565Val)
c.276+16342G>A (n.276+16342G>A)
c.*220+6202C>T (n.*220+6202C>T)
c.818C>T (p.Ala273Val)
c.845C>T (p.Ala282Val)
c.1700C>T (p.Ala567Val)
c.1514C>T (p.Ala505Val)
c.1433C>T (p.Ala478Val)
c.1139C>T (p.Ala380Val)
c.1520C>T (p.Ala507Val)
2g.48688022G>CCA346744588GTF2A1L,LHCGR,STON1-GTF2A1Lc.1775C>G (p.Ala592Gly)
c.*87C>G (n.*87C>G)
c.3441+16342G>C (n.3441+16342G>C)
c.*519C>G (n.*519C>G)
c.1694C>G (p.Ala565Gly)
c.276+16342G>C (n.276+16342G>C)
c.*220+6202C>G (n.*220+6202C>G)
c.818C>G (p.Ala273Gly)
c.845C>G (p.Ala282Gly)
c.1700C>G (p.Ala567Gly)
c.1514C>G (p.Ala505Gly)
c.1433C>G (p.Ala478Gly)
c.1139C>G (p.Ala380Gly)
c.1520C>G (p.Ala507Gly)
2g.48688022G>TCA346744590GTF2A1L,LHCGR,STON1-GTF2A1Lc.1775C>A (p.Ala592Asp)
c.*87C>A (n.*87C>A)
c.3441+16342G>T (n.3441+16342G>T)
c.*519C>A (n.*519C>A)
c.1694C>A (p.Ala565Asp)
c.276+16342G>T (n.276+16342G>T)
c.*220+6202C>A (n.*220+6202C>A)
c.818C>A (p.Ala273Asp)
c.845C>A (p.Ala282Asp)
c.1700C>A (p.Ala567Asp)
c.1514C>A (p.Ala505Asp)
c.1433C>A (p.Ala478Asp)
c.1139C>A (p.Ala380Asp)
c.1520C>A (p.Ala507Asp)
2g.48688023C>ACA346744593GTF2A1L,LHCGR,STON1-GTF2A1Lc.1774G>T (p.Ala592Ser)
c.*86G>T (n.*86G>T)
c.3441+16343C>A (n.3441+16343C>A)
c.*518G>T (n.*518G>T)
c.1693G>T (p.Ala565Ser)
c.276+16343C>A (n.276+16343C>A)
c.*220+6201G>T (n.*220+6201G>T)
c.817G>T (p.Ala273Ser)
c.844G>T (p.Ala282Ser)
c.1699G>T (p.Ala567Ser)
c.1513G>T (p.Ala505Ser)
c.1432G>T (p.Ala478Ser)
c.1138G>T (p.Ala380Ser)
c.1519G>T (p.Ala507Ser)
2g.48688023C>GCA346744595GTF2A1L,LHCGR,STON1-GTF2A1Lc.1774G>C (p.Ala592Pro)
c.*86G>C (n.*86G>C)
c.3441+16343C>G (n.3441+16343C>G)
c.*518G>C (n.*518G>C)
c.1693G>C (p.Ala565Pro)
c.276+16343C>G (n.276+16343C>G)
c.*220+6201G>C (n.*220+6201G>C)
c.817G>C (p.Ala273Pro)
c.844G>C (p.Ala282Pro)
c.1699G>C (p.Ala567Pro)
c.1513G>C (p.Ala505Pro)
c.1432G>C (p.Ala478Pro)
c.1138G>C (p.Ala380Pro)
c.1519G>C (p.Ala507Pro)
2g.48688023C>TCA346744596GTF2A1L,LHCGR,STON1-GTF2A1Lc.1774G>A (p.Ala592Thr)
c.*86G>A (n.*86G>A)
c.3441+16343C>T (n.3441+16343C>T)
c.*518G>A (n.*518G>A)
c.1693G>A (p.Ala565Thr)
c.276+16343C>T (n.276+16343C>T)
c.*220+6201G>A (n.*220+6201G>A)
c.817G>A (p.Ala273Thr)
c.844G>A (p.Ala282Thr)
c.1699G>A (p.Ala567Thr)
c.1513G>A (p.Ala505Thr)
c.1432G>A (p.Ala478Thr)
c.1138G>A (p.Ala380Thr)
c.1519G>A (p.Ala507Thr)
 gnomAD v4
2g.48688024T>ACA426124899GTF2A1L,LHCGR,STON1-GTF2A1Lc.1773A>T (p.Ser591=)
c.*85A>T (n.*85A>T)
c.3441+16344T>A (n.3441+16344T>A)
c.*517A>T (n.*517A>T)
c.1692A>T (p.Ser564=)
c.276+16344T>A (n.276+16344T>A)
c.*220+6200A>T (n.*220+6200A>T)
c.816A>T (p.Ser272=)
c.843A>T (p.Ser281=)
c.1698A>T (p.Ser566=)
c.1512A>T (p.Ser504=)
c.1431A>T (p.Ser477=)
c.1137A>T (p.Ser379=)
c.1518A>T (p.Ser506=)
2g.48688024T>CCA426124901GTF2A1L,LHCGR,STON1-GTF2A1Lc.1773A>G (p.Ser591=)
c.*85A>G (n.*85A>G)
c.3441+16344T>C (n.3441+16344T>C)
c.*517A>G (n.*517A>G)
c.1692A>G (p.Ser564=)
c.276+16344T>C (n.276+16344T>C)
c.*220+6200A>G (n.*220+6200A>G)
c.816A>G (p.Ser272=)
c.843A>G (p.Ser281=)
c.1698A>G (p.Ser566=)
c.1512A>G (p.Ser504=)
c.1431A>G (p.Ser477=)
c.1137A>G (p.Ser379=)
c.1518A>G (p.Ser506=)
2g.48688024T>GCA426124900GTF2A1L,LHCGR,STON1-GTF2A1Lc.1773A>C (p.Ser591=)
c.*85A>C (n.*85A>C)
c.3441+16344T>G (n.3441+16344T>G)
c.*517A>C (n.*517A>C)
c.1692A>C (p.Ser564=)
c.276+16344T>G (n.276+16344T>G)
c.*220+6200A>C (n.*220+6200A>C)
c.816A>C (p.Ser272=)
c.843A>C (p.Ser281=)
c.1698A>C (p.Ser566=)
c.1512A>C (p.Ser504=)
c.1431A>C (p.Ser477=)
c.1137A>C (p.Ser379=)
c.1518A>C (p.Ser506=)
 gnomAD v4
2g.48688025G>ACA346744599GTF2A1L,LHCGR,STON1-GTF2A1Lc.1772C>T (p.Ser591Leu)
c.*84C>T (n.*84C>T)
c.3441+16345G>A (n.3441+16345G>A)
c.*516C>T (n.*516C>T)
c.1691C>T (p.Ser564Leu)
c.276+16345G>A (n.276+16345G>A)
c.*220+6199C>T (n.*220+6199C>T)
c.815C>T (p.Ser272Leu)
c.842C>T (p.Ser281Leu)
c.1697C>T (p.Ser566Leu)
c.1511C>T (p.Ser504Leu)
c.1430C>T (p.Ser477Leu)
c.1136C>T (p.Ser379Leu)
c.1517C>T (p.Ser506Leu)
2g.48688025G>CCA346744602GTF2A1L,LHCGR,STON1-GTF2A1Lc.1772C>G (p.Ser591Ter)
c.*84C>G (n.*84C>G)
c.3441+16345G>C (n.3441+16345G>C)
c.*516C>G (n.*516C>G)
c.1691C>G (p.Ser564Ter)
c.276+16345G>C (n.276+16345G>C)
c.*220+6199C>G (n.*220+6199C>G)
c.815C>G (p.Ser272Ter)
c.842C>G (p.Ser281Ter)
c.1697C>G (p.Ser566Ter)
c.1511C>G (p.Ser504Ter)
c.1430C>G (p.Ser477Ter)
c.1136C>G (p.Ser379Ter)
c.1517C>G (p.Ser506Ter)
2g.48688025G>TCA346744598GTF2A1L,LHCGR,STON1-GTF2A1Lc.1772C>A (p.Ser591Ter)
c.*84C>A (n.*84C>A)
c.3441+16345G>T (n.3441+16345G>T)
c.*516C>A (n.*516C>A)
c.1691C>A (p.Ser564Ter)
c.276+16345G>T (n.276+16345G>T)
c.*220+6199C>A (n.*220+6199C>A)
c.815C>A (p.Ser272Ter)
c.842C>A (p.Ser281Ter)
c.1697C>A (p.Ser566Ter)
c.1511C>A (p.Ser504Ter)
c.1430C>A (p.Ser477Ter)
c.1136C>A (p.Ser379Ter)
c.1517C>A (p.Ser506Ter)
 dbSNP
2g.48688026A>CCA346744608GTF2A1L,LHCGR,STON1-GTF2A1Lc.1771T>G (p.Ser591Ala)
c.*83T>G (n.*83T>G)
c.3441+16346A>C (n.3441+16346A>C)
c.*515T>G (n.*515T>G)
c.1690T>G (p.Ser564Ala)
c.276+16346A>C (n.276+16346A>C)
c.*220+6198T>G (n.*220+6198T>G)
c.814T>G (p.Ser272Ala)
c.841T>G (p.Ser281Ala)
c.1696T>G (p.Ser566Ala)
c.1510T>G (p.Ser504Ala)
c.1429T>G (p.Ser477Ala)
c.1135T>G (p.Ser379Ala)
c.1516T>G (p.Ser506Ala)
2g.48688026A>GCA346744605GTF2A1L,LHCGR,STON1-GTF2A1Lc.1771T>C (p.Ser591Pro)
c.*83T>C (n.*83T>C)
c.3441+16346A>G (n.3441+16346A>G)
c.*515T>C (n.*515T>C)
c.1690T>C (p.Ser564Pro)
c.276+16346A>G (n.276+16346A>G)
c.*220+6198T>C (n.*220+6198T>C)
c.814T>C (p.Ser272Pro)
c.841T>C (p.Ser281Pro)
c.1696T>C (p.Ser566Pro)
c.1510T>C (p.Ser504Pro)
c.1429T>C (p.Ser477Pro)
c.1135T>C (p.Ser379Pro)
c.1516T>C (p.Ser506Pro)
2g.48688026A>TCA346744617GTF2A1L,LHCGR,STON1-GTF2A1Lc.1771T>A (p.Ser591Thr)
c.*83T>A (n.*83T>A)
c.3441+16346A>T (n.3441+16346A>T)
c.*515T>A (n.*515T>A)
c.1690T>A (p.Ser564Thr)
c.276+16346A>T (n.276+16346A>T)
c.*220+6198T>A (n.*220+6198T>A)
c.814T>A (p.Ser272Thr)
c.841T>A (p.Ser281Thr)
c.1696T>A (p.Ser566Thr)
c.1510T>A (p.Ser504Thr)
c.1429T>A (p.Ser477Thr)
c.1135T>A (p.Ser379Thr)
c.1516T>A (p.Ser506Thr)
2g.48688027G>ACA426124902GTF2A1L,LHCGR,STON1-GTF2A1Lc.1770C>T (p.Ile590=)
c.*82C>T (n.*82C>T)
c.3441+16347G>A (n.3441+16347G>A)
c.*514C>T (n.*514C>T)
c.1689C>T (p.Ile563=)
c.276+16347G>A (n.276+16347G>A)
c.*220+6197C>T (n.*220+6197C>T)
c.813C>T (p.Ile271=)
c.840C>T (p.Ile280=)
c.1695C>T (p.Ile565=)
c.1509C>T (p.Ile503=)
c.1428C>T (p.Ile476=)
c.1134C>T (p.Ile378=)
c.1515C>T (p.Ile505=)
 dbSNP gnomAD v3 gnomAD v4
2g.48688027G>CCA346744620GTF2A1L,LHCGR,STON1-GTF2A1Lc.1770C>G (p.Ile590Met)
c.*82C>G (n.*82C>G)
c.3441+16347G>C (n.3441+16347G>C)
c.*514C>G (n.*514C>G)
c.1689C>G (p.Ile563Met)
c.276+16347G>C (n.276+16347G>C)
c.*220+6197C>G (n.*220+6197C>G)
c.813C>G (p.Ile271Met)
c.840C>G (p.Ile280Met)
c.1695C>G (p.Ile565Met)
c.1509C>G (p.Ile503Met)
c.1428C>G (p.Ile476Met)
c.1134C>G (p.Ile378Met)
c.1515C>G (p.Ile505Met)
2g.48688027G=CA1248600952GTF2A1L,LHCGR,STON1-GTF2A1Lc.1770C= (p.Ile590=)
c.*82C= (n.*82C=)
c.3441+16347G= (n.3441+16347G=)
c.*514C= (n.*514C=)
c.1689C= (p.Ile563=)
c.276+16347G= (n.276+16347G=)
c.*220+6197C= (n.*220+6197C=)
c.813C= (p.Ile271=)
c.840C= (p.Ile280=)
c.1695C= (p.Ile565=)
c.1509C= (p.Ile503=)
c.1428C= (p.Ile476=)
c.1134C= (p.Ile378=)
c.1515C= (p.Ile505=)
2g.48688027G>TCA426124903GTF2A1L,LHCGR,STON1-GTF2A1Lc.1770C>A (p.Ile590=)
c.*82C>A (n.*82C>A)
c.3441+16347G>T (n.3441+16347G>T)
c.*514C>A (n.*514C>A)
c.1689C>A (p.Ile563=)
c.276+16347G>T (n.276+16347G>T)
c.*220+6197C>A (n.*220+6197C>A)
c.813C>A (p.Ile271=)
c.840C>A (p.Ile280=)
c.1695C>A (p.Ile565=)
c.1509C>A (p.Ile503=)
c.1428C>A (p.Ile476=)
c.1134C>A (p.Ile378=)
c.1515C>A (p.Ile505=)
2g.48688028A=CA1248600953GTF2A1L,LHCGR,STON1-GTF2A1Lc.1769T= (p.Ile590=)
c.*81T= (n.*81T=)
c.3441+16348A= (n.3441+16348A=)
c.*513T= (n.*513T=)
c.1688T= (p.Ile563=)
c.276+16348A= (n.276+16348A=)
c.*220+6196T= (n.*220+6196T=)
c.812T= (p.Ile271=)
c.839T= (p.Ile280=)
c.1694T= (p.Ile565=)
c.1508T= (p.Ile503=)
c.1427T= (p.Ile476=)
c.1133T= (p.Ile378=)
c.1514T= (p.Ile505=)
2g.48688028A>CCA346744622GTF2A1L,LHCGR,STON1-GTF2A1Lc.1769T>G (p.Ile590Ser)
c.*81T>G (n.*81T>G)
c.3441+16348A>C (n.3441+16348A>C)
c.*513T>G (n.*513T>G)
c.1688T>G (p.Ile563Ser)
c.276+16348A>C (n.276+16348A>C)
c.*220+6196T>G (n.*220+6196T>G)
c.812T>G (p.Ile271Ser)
c.839T>G (p.Ile280Ser)
c.1694T>G (p.Ile565Ser)
c.1508T>G (p.Ile503Ser)
c.1427T>G (p.Ile476Ser)
c.1133T>G (p.Ile378Ser)
c.1514T>G (p.Ile505Ser)
2g.48688028A>GCA1652992GTF2A1L,LHCGR,STON1-GTF2A1Lc.1769T>C (p.Ile590Thr)
c.*81T>C (n.*81T>C)
c.3441+16348A>G (n.3441+16348A>G)
c.*513T>C (n.*513T>C)
c.1688T>C (p.Ile563Thr)
c.276+16348A>G (n.276+16348A>G)
c.*220+6196T>C (n.*220+6196T>C)
c.812T>C (p.Ile271Thr)
c.839T>C (p.Ile280Thr)
c.1694T>C (p.Ile565Thr)
c.1508T>C (p.Ile503Thr)
c.1427T>C (p.Ile476Thr)
c.1133T>C (p.Ile378Thr)
c.1514T>C (p.Ile505Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688028A>TCA346744625GTF2A1L,LHCGR,STON1-GTF2A1Lc.1769T>A (p.Ile590Asn)
c.*81T>A (n.*81T>A)
c.3441+16348A>T (n.3441+16348A>T)
c.*513T>A (n.*513T>A)
c.1688T>A (p.Ile563Asn)
c.276+16348A>T (n.276+16348A>T)
c.*220+6196T>A (n.*220+6196T>A)
c.812T>A (p.Ile271Asn)
c.839T>A (p.Ile280Asn)
c.1694T>A (p.Ile565Asn)
c.1508T>A (p.Ile503Asn)
c.1427T>A (p.Ile476Asn)
c.1133T>A (p.Ile378Asn)
c.1514T>A (p.Ile505Asn)
 dbSNP
2g.48688029T>ACA346744628GTF2A1L,LHCGR,STON1-GTF2A1Lc.1768A>T (p.Ile590Phe)
c.*80A>T (n.*80A>T)
c.3441+16349T>A (n.3441+16349T>A)
c.*512A>T (n.*512A>T)
c.1687A>T (p.Ile563Phe)
c.276+16349T>A (n.276+16349T>A)
c.*220+6195A>T (n.*220+6195A>T)
c.811A>T (p.Ile271Phe)
c.838A>T (p.Ile280Phe)
c.1693A>T (p.Ile565Phe)
c.1507A>T (p.Ile503Phe)
c.1426A>T (p.Ile476Phe)
c.1132A>T (p.Ile378Phe)
c.1513A>T (p.Ile505Phe)
2g.48688029T>CCA1652993GTF2A1L,LHCGR,STON1-GTF2A1Lc.1768A>G (p.Ile590Val)
c.*80A>G (n.*80A>G)
c.3441+16349T>C (n.3441+16349T>C)
c.*512A>G (n.*512A>G)
c.1687A>G (p.Ile563Val)
c.276+16349T>C (n.276+16349T>C)
c.*220+6195A>G (n.*220+6195A>G)
c.811A>G (p.Ile271Val)
c.838A>G (p.Ile280Val)
c.1693A>G (p.Ile565Val)
c.1507A>G (p.Ile503Val)
c.1426A>G (p.Ile476Val)
c.1132A>G (p.Ile378Val)
c.1513A>G (p.Ile505Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688029T>GCA346744635GTF2A1L,LHCGR,STON1-GTF2A1Lc.1768A>C (p.Ile590Leu)
c.*80A>C (n.*80A>C)
c.3441+16349T>G (n.3441+16349T>G)
c.*512A>C (n.*512A>C)
c.1687A>C (p.Ile563Leu)
c.276+16349T>G (n.276+16349T>G)
c.*220+6195A>C (n.*220+6195A>C)
c.811A>C (p.Ile271Leu)
c.838A>C (p.Ile280Leu)
c.1693A>C (p.Ile565Leu)
c.1507A>C (p.Ile503Leu)
c.1426A>C (p.Ile476Leu)
c.1132A>C (p.Ile378Leu)
c.1513A>C (p.Ile505Leu)
2g.48688029T=CA1248600954GTF2A1L,LHCGR,STON1-GTF2A1Lc.1768A= (p.Ile590=)
c.*80A= (n.*80A=)
c.3441+16349T= (n.3441+16349T=)
c.*512A= (n.*512A=)
c.1687A= (p.Ile563=)
c.276+16349T= (n.276+16349T=)
c.*220+6195A= (n.*220+6195A=)
c.811A= (p.Ile271=)
c.838A= (p.Ile280=)
c.1693A= (p.Ile565=)
c.1507A= (p.Ile503=)
c.1426A= (p.Ile476=)
c.1132A= (p.Ile378=)
c.1513A= (p.Ile505=)
2g.48688030G>ACA426124904GTF2A1L,LHCGR,STON1-GTF2A1Lc.1767C>T (p.Ala589=)
c.*79C>T (n.*79C>T)
c.3441+16350G>A (n.3441+16350G>A)
c.*511C>T (n.*511C>T)
c.1686C>T (p.Ala562=)
c.276+16350G>A (n.276+16350G>A)
c.*220+6194C>T (n.*220+6194C>T)
c.810C>T (p.Ala270=)
c.837C>T (p.Ala279=)
c.1692C>T (p.Ala564=)
c.1506C>T (p.Ala502=)
c.1425C>T (p.Ala475=)
c.1131C>T (p.Ala377=)
c.1512C>T (p.Ala504=)
2g.48688030G>CCA426124905GTF2A1L,LHCGR,STON1-GTF2A1Lc.1767C>G (p.Ala589=)
c.*79C>G (n.*79C>G)
c.3441+16350G>C (n.3441+16350G>C)
c.*511C>G (n.*511C>G)
c.1686C>G (p.Ala562=)
c.276+16350G>C (n.276+16350G>C)
c.*220+6194C>G (n.*220+6194C>G)
c.810C>G (p.Ala270=)
c.837C>G (p.Ala279=)
c.1692C>G (p.Ala564=)
c.1506C>G (p.Ala502=)
c.1425C>G (p.Ala475=)
c.1131C>G (p.Ala377=)
c.1512C>G (p.Ala504=)
2g.48688030G>TCA426124906GTF2A1L,LHCGR,STON1-GTF2A1Lc.1767C>A (p.Ala589=)
c.*79C>A (n.*79C>A)
c.3441+16350G>T (n.3441+16350G>T)
c.*511C>A (n.*511C>A)
c.1686C>A (p.Ala562=)
c.276+16350G>T (n.276+16350G>T)
c.*220+6194C>A (n.*220+6194C>A)
c.810C>A (p.Ala270=)
c.837C>A (p.Ala279=)
c.1692C>A (p.Ala564=)
c.1506C>A (p.Ala502=)
c.1425C>A (p.Ala475=)
c.1131C>A (p.Ala377=)
c.1512C>A (p.Ala504=)
2g.48688031G>ACA46752774GTF2A1L,LHCGR,STON1-GTF2A1Lc.1766C>T (p.Ala589Val)
c.*78C>T (n.*78C>T)
c.3441+16351G>A (n.3441+16351G>A)
c.*510C>T (n.*510C>T)
c.1685C>T (p.Ala562Val)
c.276+16351G>A (n.276+16351G>A)
c.*220+6193C>T (n.*220+6193C>T)
c.809C>T (p.Ala270Val)
c.836C>T (p.Ala279Val)
c.1691C>T (p.Ala564Val)
c.1505C>T (p.Ala502Val)
c.1424C>T (p.Ala475Val)
c.1130C>T (p.Ala377Val)
c.1511C>T (p.Ala504Val)
 dbSNP COSMIC
2g.48688031G>CCA346744639GTF2A1L,LHCGR,STON1-GTF2A1Lc.1766C>G (p.Ala589Gly)
c.*78C>G (n.*78C>G)
c.3441+16351G>C (n.3441+16351G>C)
c.*510C>G (n.*510C>G)
c.1685C>G (p.Ala562Gly)
c.276+16351G>C (n.276+16351G>C)
c.*220+6193C>G (n.*220+6193C>G)
c.809C>G (p.Ala270Gly)
c.836C>G (p.Ala279Gly)
c.1691C>G (p.Ala564Gly)
c.1505C>G (p.Ala502Gly)
c.1424C>G (p.Ala475Gly)
c.1130C>G (p.Ala377Gly)
c.1511C>G (p.Ala504Gly)
2g.48688031G=CA1248600955GTF2A1L,LHCGR,STON1-GTF2A1Lc.1766C= (p.Ala589=)
c.*78C= (n.*78C=)
c.3441+16351G= (n.3441+16351G=)
c.*510C= (n.*510C=)
c.1685C= (p.Ala562=)
c.276+16351G= (n.276+16351G=)
c.*220+6193C= (n.*220+6193C=)
c.809C= (p.Ala270=)
c.836C= (p.Ala279=)
c.1691C= (p.Ala564=)
c.1505C= (p.Ala502=)
c.1424C= (p.Ala475=)
c.1130C= (p.Ala377=)
c.1511C= (p.Ala504=)
2g.48688031G>TCA346744641GTF2A1L,LHCGR,STON1-GTF2A1Lc.1766C>A (p.Ala589Asp)
c.*78C>A (n.*78C>A)
c.3441+16351G>T (n.3441+16351G>T)
c.*510C>A (n.*510C>A)
c.1685C>A (p.Ala562Asp)
c.276+16351G>T (n.276+16351G>T)
c.*220+6193C>A (n.*220+6193C>A)
c.809C>A (p.Ala270Asp)
c.836C>A (p.Ala279Asp)
c.1691C>A (p.Ala564Asp)
c.1505C>A (p.Ala502Asp)
c.1424C>A (p.Ala475Asp)
c.1130C>A (p.Ala377Asp)
c.1511C>A (p.Ala504Asp)
2g.48688032C>ACA346744645GTF2A1L,LHCGR,STON1-GTF2A1Lc.1765G>T (p.Ala589Ser)
c.*77G>T (n.*77G>T)
c.3441+16352C>A (n.3441+16352C>A)
c.*509G>T (n.*509G>T)
c.1684G>T (p.Ala562Ser)
c.276+16352C>A (n.276+16352C>A)
c.*220+6192G>T (n.*220+6192G>T)
c.808G>T (p.Ala270Ser)
c.835G>T (p.Ala279Ser)
c.1690G>T (p.Ala564Ser)
c.1504G>T (p.Ala502Ser)
c.1423G>T (p.Ala475Ser)
c.1129G>T (p.Ala377Ser)
c.1510G>T (p.Ala504Ser)
2g.48688032C=CA1248600956GTF2A1L,LHCGR,STON1-GTF2A1Lc.1765G= (p.Ala589=)
c.*77G= (n.*77G=)
c.3441+16352C= (n.3441+16352C=)
c.*509G= (n.*509G=)
c.1684G= (p.Ala562=)
c.276+16352C= (n.276+16352C=)
c.*220+6192G= (n.*220+6192G=)
c.808G= (p.Ala270=)
c.835G= (p.Ala279=)
c.1690G= (p.Ala564=)
c.1504G= (p.Ala502=)
c.1423G= (p.Ala475=)
c.1129G= (p.Ala377=)
c.1510G= (p.Ala504=)
2g.48688032C>GCA346744647GTF2A1L,LHCGR,STON1-GTF2A1Lc.1765G>C (p.Ala589Pro)
c.*77G>C (n.*77G>C)
c.3441+16352C>G (n.3441+16352C>G)
c.*509G>C (n.*509G>C)
c.1684G>C (p.Ala562Pro)
c.276+16352C>G (n.276+16352C>G)
c.*220+6192G>C (n.*220+6192G>C)
c.808G>C (p.Ala270Pro)
c.835G>C (p.Ala279Pro)
c.1690G>C (p.Ala564Pro)
c.1504G>C (p.Ala502Pro)
c.1423G>C (p.Ala475Pro)
c.1129G>C (p.Ala377Pro)
c.1510G>C (p.Ala504Pro)
2g.48688032C>TCA346744651GTF2A1L,LHCGR,STON1-GTF2A1Lc.1765G>A (p.Ala589Thr)
c.*77G>A (n.*77G>A)
c.3441+16352C>T (n.3441+16352C>T)
c.*509G>A (n.*509G>A)
c.1684G>A (p.Ala562Thr)
c.276+16352C>T (n.276+16352C>T)
c.*220+6192G>A (n.*220+6192G>A)
c.808G>A (p.Ala270Thr)
c.835G>A (p.Ala279Thr)
c.1690G>A (p.Ala564Thr)
c.1504G>A (p.Ala502Thr)
c.1423G>A (p.Ala475Thr)
c.1129G>A (p.Ala377Thr)
c.1510G>A (p.Ala504Thr)
2g.48688033A=CA1248600957GTF2A1L,LHCGR,STON1-GTF2A1Lc.1764T= (p.Phe588=)
c.*76T= (n.*76T=)
c.3441+16353A= (n.3441+16353A=)
c.*508T= (n.*508T=)
c.1683T= (p.Phe561=)
c.276+16353A= (n.276+16353A=)
c.*220+6191T= (n.*220+6191T=)
c.807T= (p.Phe269=)
c.834T= (p.Phe278=)
c.1689T= (p.Phe563=)
c.1503T= (p.Phe501=)
c.1422T= (p.Phe474=)
c.1128T= (p.Phe376=)
c.1509T= (p.Phe503=)
2g.48688033A>CCA346744655GTF2A1L,LHCGR,STON1-GTF2A1Lc.1764T>G (p.Phe588Leu)
c.*76T>G (n.*76T>G)
c.3441+16353A>C (n.3441+16353A>C)
c.*508T>G (n.*508T>G)
c.1683T>G (p.Phe561Leu)
c.276+16353A>C (n.276+16353A>C)
c.*220+6191T>G (n.*220+6191T>G)
c.807T>G (p.Phe269Leu)
c.834T>G (p.Phe278Leu)
c.1689T>G (p.Phe563Leu)
c.1503T>G (p.Phe501Leu)
c.1422T>G (p.Phe474Leu)
c.1128T>G (p.Phe376Leu)
c.1509T>G (p.Phe503Leu)
2g.48688033A>GCA426124907GTF2A1L,LHCGR,STON1-GTF2A1Lc.1764T>C (p.Phe588=)
c.*76T>C (n.*76T>C)
c.3441+16353A>G (n.3441+16353A>G)
c.*508T>C (n.*508T>C)
c.1683T>C (p.Phe561=)
c.276+16353A>G (n.276+16353A>G)
c.*220+6191T>C (n.*220+6191T>C)
c.807T>C (p.Phe269=)
c.834T>C (p.Phe278=)
c.1689T>C (p.Phe563=)
c.1503T>C (p.Phe501=)
c.1422T>C (p.Phe474=)
c.1128T>C (p.Phe376=)
c.1509T>C (p.Phe503=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688033A>TCA346744656GTF2A1L,LHCGR,STON1-GTF2A1Lc.1764T>A (p.Phe588Leu)
c.*76T>A (n.*76T>A)
c.3441+16353A>T (n.3441+16353A>T)
c.*508T>A (n.*508T>A)
c.1683T>A (p.Phe561Leu)
c.276+16353A>T (n.276+16353A>T)
c.*220+6191T>A (n.*220+6191T>A)
c.807T>A (p.Phe269Leu)
c.834T>A (p.Phe278Leu)
c.1689T>A (p.Phe563Leu)
c.1503T>A (p.Phe501Leu)
c.1422T>A (p.Phe474Leu)
c.1128T>A (p.Phe376Leu)
c.1509T>A (p.Phe503Leu)
2g.48688039dupCA532706158GTF2A1L,LHCGR,STON1-GTF2A1Lc.1764dup (p.Ala589CysfsTer17)
c.*76dup (n.*76dup)
c.3441+16359dup (n.3441+16359dup)
c.*508dup (n.*508dup)
c.1683dup (p.Ala562CysfsTer17)
c.276+16359dup (n.276+16359dup)
c.*220+6191dup (n.*220+6191dup)
c.807dup (p.Ala270CysfsTer17)
c.834dup (p.Ala279CysfsTer17)
c.1689dup (p.Ala564CysfsTer17)
c.1503dup (p.Ala502CysfsTer17)
c.1422dup (p.Ala475CysfsTer17)
c.1128dup (p.Ala377CysfsTer17)
c.1509dup (p.Ala504CysfsTer17)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.48688039delCA426124908GTF2A1L,LHCGR,STON1-GTF2A1Lc.1764del (p.Phe588LeufsTer14)
c.*76del (n.*76del)
c.3441+16359del (n.3441+16359del)
c.*508del (n.*508del)
c.1683del (p.Phe561LeufsTer14)
c.276+16359del (n.276+16359del)
c.*220+6191del (n.*220+6191del)
c.807del (p.Phe269LeufsTer14)
c.834del (p.Phe278LeufsTer14)
c.1689del (p.Phe563LeufsTer14)
c.1503del (p.Phe501LeufsTer14)
c.1422del (p.Phe474LeufsTer14)
c.1128del (p.Phe376LeufsTer14)
c.1509del (p.Phe503LeufsTer14)
 COSMIC
2g.48688033_48688034insTCA426124909GTF2A1L,LHCGR,STON1-GTF2A1Lc.1763_1764insA (p.Phe588LeufsTer18)
c.*75_*76insA (n.*75_*76insA)
c.3441+16353_3441+16354insT (n.3441+16353_3441+16354insT)
c.*507_*508insA (n.*507_*508insA)
c.1682_1683insA (p.Phe561LeufsTer18)
c.276+16353_276+16354insT (n.276+16353_276+16354insT)
c.*220+6190_*220+6191insA (n.*220+6190_*220+6191insA)
c.806_807insA (p.Phe269LeufsTer18)
c.833_834insA (p.Phe278LeufsTer18)
c.1688_1689insA (p.Phe563LeufsTer18)
c.1502_1503insA (p.Phe501LeufsTer18)
c.1421_1422insA (p.Phe474LeufsTer18)
c.1127_1128insA (p.Phe376LeufsTer18)
c.1508_1509insA (p.Phe503LeufsTer18)
2g.48688034A>CCA346744660GTF2A1L,LHCGR,STON1-GTF2A1Lc.1763T>G (p.Phe588Cys)
c.*75T>G (n.*75T>G)
c.3441+16354A>C (n.3441+16354A>C)
c.*507T>G (n.*507T>G)
c.1682T>G (p.Phe561Cys)
c.276+16354A>C (n.276+16354A>C)
c.*220+6190T>G (n.*220+6190T>G)
c.806T>G (p.Phe269Cys)
c.833T>G (p.Phe278Cys)
c.1688T>G (p.Phe563Cys)
c.1502T>G (p.Phe501Cys)
c.1421T>G (p.Phe474Cys)
c.1127T>G (p.Phe376Cys)
c.1508T>G (p.Phe503Cys)
2g.48688034A>GCA346744664GTF2A1L,LHCGR,STON1-GTF2A1Lc.1763T>C (p.Phe588Ser)
c.*75T>C (n.*75T>C)
c.3441+16354A>G (n.3441+16354A>G)
c.*507T>C (n.*507T>C)
c.1682T>C (p.Phe561Ser)
c.276+16354A>G (n.276+16354A>G)
c.*220+6190T>C (n.*220+6190T>C)
c.806T>C (p.Phe269Ser)
c.833T>C (p.Phe278Ser)
c.1688T>C (p.Phe563Ser)
c.1502T>C (p.Phe501Ser)
c.1421T>C (p.Phe474Ser)
c.1127T>C (p.Phe376Ser)
c.1508T>C (p.Phe503Ser)
2g.48688034A>TCA346744668GTF2A1L,LHCGR,STON1-GTF2A1Lc.1763T>A (p.Phe588Tyr)
c.*75T>A (n.*75T>A)
c.3441+16354A>T (n.3441+16354A>T)
c.*507T>A (n.*507T>A)
c.1682T>A (p.Phe561Tyr)
c.276+16354A>T (n.276+16354A>T)
c.*220+6190T>A (n.*220+6190T>A)
c.806T>A (p.Phe269Tyr)
c.833T>A (p.Phe278Tyr)
c.1688T>A (p.Phe563Tyr)
c.1502T>A (p.Phe501Tyr)
c.1421T>A (p.Phe474Tyr)
c.1127T>A (p.Phe376Tyr)
c.1508T>A (p.Phe503Tyr)
2g.48688035A>CCA346744671GTF2A1L,LHCGR,STON1-GTF2A1Lc.1762T>G (p.Phe588Val)
c.*74T>G (n.*74T>G)
c.3441+16355A>C (n.3441+16355A>C)
c.*506T>G (n.*506T>G)
c.1681T>G (p.Phe561Val)
c.276+16355A>C (n.276+16355A>C)
c.*220+6189T>G (n.*220+6189T>G)
c.805T>G (p.Phe269Val)
c.832T>G (p.Phe278Val)
c.1687T>G (p.Phe563Val)
c.1501T>G (p.Phe501Val)
c.1420T>G (p.Phe474Val)
c.1126T>G (p.Phe376Val)
c.1507T>G (p.Phe503Val)
2g.48688035A>GCA346744675GTF2A1L,LHCGR,STON1-GTF2A1Lc.1762T>C (p.Phe588Leu)
c.*74T>C (n.*74T>C)
c.3441+16355A>G (n.3441+16355A>G)
c.*506T>C (n.*506T>C)
c.1681T>C (p.Phe561Leu)
c.276+16355A>G (n.276+16355A>G)
c.*220+6189T>C (n.*220+6189T>C)
c.805T>C (p.Phe269Leu)
c.832T>C (p.Phe278Leu)
c.1687T>C (p.Phe563Leu)
c.1501T>C (p.Phe501Leu)
c.1420T>C (p.Phe474Leu)
c.1126T>C (p.Phe376Leu)
c.1507T>C (p.Phe503Leu)
2g.48688035A>TCA346744677GTF2A1L,LHCGR,STON1-GTF2A1Lc.1762T>A (p.Phe588Ile)
c.*74T>A (n.*74T>A)
c.3441+16355A>T (n.3441+16355A>T)
c.*506T>A (n.*506T>A)
c.1681T>A (p.Phe561Ile)
c.276+16355A>T (n.276+16355A>T)
c.*220+6189T>A (n.*220+6189T>A)
c.805T>A (p.Phe269Ile)
c.832T>A (p.Phe278Ile)
c.1687T>A (p.Phe563Ile)
c.1501T>A (p.Phe501Ile)
c.1420T>A (p.Phe474Ile)
c.1126T>A (p.Phe376Ile)
c.1507T>A (p.Phe503Ile)
2g.48688036A>CCA346744680GTF2A1L,LHCGR,STON1-GTF2A1Lc.1761T>G (p.Phe587Leu)
c.*73T>G (n.*73T>G)
c.3441+16356A>C (n.3441+16356A>C)
c.*505T>G (n.*505T>G)
c.1680T>G (p.Phe560Leu)
c.276+16356A>C (n.276+16356A>C)
c.*220+6188T>G (n.*220+6188T>G)
c.804T>G (p.Phe268Leu)
c.831T>G (p.Phe277Leu)
c.1686T>G (p.Phe562Leu)
c.1500T>G (p.Phe500Leu)
c.1419T>G (p.Phe473Leu)
c.1125T>G (p.Phe375Leu)
c.1506T>G (p.Phe502Leu)
2g.48688036A>GCA426124910GTF2A1L,LHCGR,STON1-GTF2A1Lc.1761T>C (p.Phe587=)
c.*73T>C (n.*73T>C)
c.3441+16356A>G (n.3441+16356A>G)
c.*505T>C (n.*505T>C)
c.1680T>C (p.Phe560=)
c.276+16356A>G (n.276+16356A>G)
c.*220+6188T>C (n.*220+6188T>C)
c.804T>C (p.Phe268=)
c.831T>C (p.Phe277=)
c.1686T>C (p.Phe562=)
c.1500T>C (p.Phe500=)
c.1419T>C (p.Phe473=)
c.1125T>C (p.Phe375=)
c.1506T>C (p.Phe502=)
2g.48688036A>TCA346744684GTF2A1L,LHCGR,STON1-GTF2A1Lc.1761T>A (p.Phe587Leu)
c.*73T>A (n.*73T>A)
c.3441+16356A>T (n.3441+16356A>T)
c.*505T>A (n.*505T>A)
c.1680T>A (p.Phe560Leu)
c.276+16356A>T (n.276+16356A>T)
c.*220+6188T>A (n.*220+6188T>A)
c.804T>A (p.Phe268Leu)
c.831T>A (p.Phe277Leu)
c.1686T>A (p.Phe562Leu)
c.1500T>A (p.Phe500Leu)
c.1419T>A (p.Phe473Leu)
c.1125T>A (p.Phe375Leu)
c.1506T>A (p.Phe502Leu)
2g.48688037A>CCA346744685GTF2A1L,LHCGR,STON1-GTF2A1Lc.1760T>G (p.Phe587Cys)
c.*72T>G (n.*72T>G)
c.3441+16357A>C (n.3441+16357A>C)
c.*504T>G (n.*504T>G)
c.1679T>G (p.Phe560Cys)
c.276+16357A>C (n.276+16357A>C)
c.*220+6187T>G (n.*220+6187T>G)
c.803T>G (p.Phe268Cys)
c.830T>G (p.Phe277Cys)
c.1685T>G (p.Phe562Cys)
c.1499T>G (p.Phe500Cys)
c.1418T>G (p.Phe473Cys)
c.1124T>G (p.Phe375Cys)
c.1505T>G (p.Phe502Cys)
2g.48688037A>GCA346744686GTF2A1L,LHCGR,STON1-GTF2A1Lc.1760T>C (p.Phe587Ser)
c.*72T>C (n.*72T>C)
c.3441+16357A>G (n.3441+16357A>G)
c.*504T>C (n.*504T>C)
c.1679T>C (p.Phe560Ser)
c.276+16357A>G (n.276+16357A>G)
c.*220+6187T>C (n.*220+6187T>C)
c.803T>C (p.Phe268Ser)
c.830T>C (p.Phe277Ser)
c.1685T>C (p.Phe562Ser)
c.1499T>C (p.Phe500Ser)
c.1418T>C (p.Phe473Ser)
c.1124T>C (p.Phe375Ser)
c.1505T>C (p.Phe502Ser)
2g.48688037A>TCA346744687GTF2A1L,LHCGR,STON1-GTF2A1Lc.1760T>A (p.Phe587Tyr)
c.*72T>A (n.*72T>A)
c.3441+16357A>T (n.3441+16357A>T)
c.*504T>A (n.*504T>A)
c.1679T>A (p.Phe560Tyr)
c.276+16357A>T (n.276+16357A>T)
c.*220+6187T>A (n.*220+6187T>A)
c.803T>A (p.Phe268Tyr)
c.830T>A (p.Phe277Tyr)
c.1685T>A (p.Phe562Tyr)
c.1499T>A (p.Phe500Tyr)
c.1418T>A (p.Phe473Tyr)
c.1124T>A (p.Phe375Tyr)
c.1505T>A (p.Phe502Tyr)
2g.48688037_48688038insTGGCTTCACTGGATCCA2520066976GTF2A1L,LHCGR,STON1-GTF2A1Lc.1759_1760insGATCCAGTGAAGCCA (p.Phe587Ter)
c.*71_*72insGATCCAGTGAAGCCA (n.*71_*72insGATCCAGTGAAGCCA)
c.3441+16357_3441+16358insTGGCTTCACTGGATC (n.3441+16357_3441+16358insTGGCTTCACTGGATC)
c.*503_*504insGATCCAGTGAAGCCA (n.*503_*504insGATCCAGTGAAGCCA)
c.1678_1679insGATCCAGTGAAGCCA (p.Phe560Ter)
c.276+16357_276+16358insTGGCTTCACTGGATC (n.276+16357_276+16358insTGGCTTCACTGGATC)
c.*220+6186_*220+6187insGATCCAGTGAAGCCA (n.*220+6186_*220+6187insGATCCAGTGAAGCCA)
c.802_803insGATCCAGTGAAGCCA (p.Phe268Ter)
c.829_830insGATCCAGTGAAGCCA (p.Phe277Ter)
c.1684_1685insGATCCAGTGAAGCCA (p.Phe562Ter)
c.1498_1499insGATCCAGTGAAGCCA (p.Phe500Ter)
c.1417_1418insGATCCAGTGAAGCCA (p.Phe473Ter)
c.1123_1124insGATCCAGTGAAGCCA (p.Phe375Ter)
c.1504_1505insGATCCAGTGAAGCCA (p.Phe502Ter)
2g.48688038A>CCA346744693GTF2A1L,LHCGR,STON1-GTF2A1Lc.1759T>G (p.Phe587Val)
c.*71T>G (n.*71T>G)
c.3441+16358A>C (n.3441+16358A>C)
c.*503T>G (n.*503T>G)
c.1678T>G (p.Phe560Val)
c.276+16358A>C (n.276+16358A>C)
c.*220+6186T>G (n.*220+6186T>G)
c.802T>G (p.Phe268Val)
c.829T>G (p.Phe277Val)
c.1684T>G (p.Phe562Val)
c.1498T>G (p.Phe500Val)
c.1417T>G (p.Phe473Val)
c.1123T>G (p.Phe375Val)
c.1504T>G (p.Phe502Val)
2g.48688038A>GCA346744695GTF2A1L,LHCGR,STON1-GTF2A1Lc.1759T>C (p.Phe587Leu)
c.*71T>C (n.*71T>C)
c.3441+16358A>G (n.3441+16358A>G)
c.*503T>C (n.*503T>C)
c.1678T>C (p.Phe560Leu)
c.276+16358A>G (n.276+16358A>G)
c.*220+6186T>C (n.*220+6186T>C)
c.802T>C (p.Phe268Leu)
c.829T>C (p.Phe277Leu)
c.1684T>C (p.Phe562Leu)
c.1498T>C (p.Phe500Leu)
c.1417T>C (p.Phe473Leu)
c.1123T>C (p.Phe375Leu)
c.1504T>C (p.Phe502Leu)
2g.48688038A>TCA346744691GTF2A1L,LHCGR,STON1-GTF2A1Lc.1759T>A (p.Phe587Ile)
c.*71T>A (n.*71T>A)
c.3441+16358A>T (n.3441+16358A>T)
c.*503T>A (n.*503T>A)
c.1678T>A (p.Phe560Ile)
c.276+16358A>T (n.276+16358A>T)
c.*220+6186T>A (n.*220+6186T>A)
c.802T>A (p.Phe268Ile)
c.829T>A (p.Phe277Ile)
c.1684T>A (p.Phe562Ile)
c.1498T>A (p.Phe500Ile)
c.1417T>A (p.Phe473Ile)
c.1123T>A (p.Phe375Ile)
c.1504T>A (p.Phe502Ile)
2g.48688039A=CA1248600958GTF2A1L,LHCGR,STON1-GTF2A1Lc.1758T= (p.Ser586=)
c.*70T= (n.*70T=)
c.3441+16359A= (n.3441+16359A=)
c.*502T= (n.*502T=)
c.1677T= (p.Ser559=)
c.276+16359A= (n.276+16359A=)
c.*220+6185T= (n.*220+6185T=)
c.801T= (p.Ser267=)
c.828T= (p.Ser276=)
c.1683T= (p.Ser561=)
c.1497T= (p.Ser499=)
c.1416T= (p.Ser472=)
c.1122T= (p.Ser374=)
c.1503T= (p.Ser501=)
2g.48688039A>CCA426124911GTF2A1L,LHCGR,STON1-GTF2A1Lc.1758T>G (p.Ser586=)
c.*70T>G (n.*70T>G)
c.3441+16359A>C (n.3441+16359A>C)
c.*502T>G (n.*502T>G)
c.1677T>G (p.Ser559=)
c.276+16359A>C (n.276+16359A>C)
c.*220+6185T>G (n.*220+6185T>G)
c.801T>G (p.Ser267=)
c.828T>G (p.Ser276=)
c.1683T>G (p.Ser561=)
c.1497T>G (p.Ser499=)
c.1416T>G (p.Ser472=)
c.1122T>G (p.Ser374=)
c.1503T>G (p.Ser501=)
2g.48688039A>GCA426124912GTF2A1L,LHCGR,STON1-GTF2A1Lc.1758T>C (p.Ser586=)
c.*70T>C (n.*70T>C)
c.3441+16359A>G (n.3441+16359A>G)
c.*502T>C (n.*502T>C)
c.1677T>C (p.Ser559=)
c.276+16359A>G (n.276+16359A>G)
c.*220+6185T>C (n.*220+6185T>C)
c.801T>C (p.Ser267=)
c.828T>C (p.Ser276=)
c.1683T>C (p.Ser561=)
c.1497T>C (p.Ser499=)
c.1416T>C (p.Ser472=)
c.1122T>C (p.Ser374=)
c.1503T>C (p.Ser501=)
2g.48688039A>TCA426124913GTF2A1L,LHCGR,STON1-GTF2A1Lc.1758T>A (p.Ser586=)
c.*70T>A (n.*70T>A)
c.3441+16359A>T (n.3441+16359A>T)
c.*502T>A (n.*502T>A)
c.1677T>A (p.Ser559=)
c.276+16359A>T (n.276+16359A>T)
c.*220+6185T>A (n.*220+6185T>A)
c.801T>A (p.Ser267=)
c.828T>A (p.Ser276=)
c.1683T>A (p.Ser561=)
c.1497T>A (p.Ser499=)
c.1416T>A (p.Ser472=)
c.1122T>A (p.Ser374=)
c.1503T>A (p.Ser501=)
 dbSNP
2g.48688042_48688043delCA2586969302GTF2A1L,LHCGR,STON1-GTF2A1Lc.1757_1758del (p.Ser586PhefsTer19)
c.*69_*70del (n.*69_*70del)
c.3441+16362_3441+16363del (n.3441+16362_3441+16363del)
c.*501_*502del (n.*501_*502del)
c.1676_1677del (p.Ser559PhefsTer19)
c.276+16362_276+16363del (n.276+16362_276+16363del)
c.*220+6184_*220+6185del (n.*220+6184_*220+6185del)
c.800_801del (p.Ser267PhefsTer19)
c.827_828del (p.Ser276PhefsTer19)
c.1682_1683del (p.Ser561PhefsTer19)
c.1496_1497del (p.Ser499PhefsTer19)
c.1415_1416del (p.Ser472PhefsTer19)
c.1121_1122del (p.Ser374PhefsTer19)
c.1502_1503del (p.Ser501PhefsTer19)
2g.48688040G>ACA346744700GTF2A1L,LHCGR,STON1-GTF2A1Lc.1757C>T (p.Ser586Phe)
c.*69C>T (n.*69C>T)
c.3441+16360G>A (n.3441+16360G>A)
c.*501C>T (n.*501C>T)
c.1676C>T (p.Ser559Phe)
c.276+16360G>A (n.276+16360G>A)
c.*220+6184C>T (n.*220+6184C>T)
c.800C>T (p.Ser267Phe)
c.827C>T (p.Ser276Phe)
c.1682C>T (p.Ser561Phe)
c.1496C>T (p.Ser499Phe)
c.1415C>T (p.Ser472Phe)
c.1121C>T (p.Ser374Phe)
c.1502C>T (p.Ser501Phe)
 COSMIC
2g.48688040G>CCA346744710GTF2A1L,LHCGR,STON1-GTF2A1Lc.1757C>G (p.Ser586Cys)
c.*69C>G (n.*69C>G)
c.3441+16360G>C (n.3441+16360G>C)
c.*501C>G (n.*501C>G)
c.1676C>G (p.Ser559Cys)
c.276+16360G>C (n.276+16360G>C)
c.*220+6184C>G (n.*220+6184C>G)
c.800C>G (p.Ser267Cys)
c.827C>G (p.Ser276Cys)
c.1682C>G (p.Ser561Cys)
c.1496C>G (p.Ser499Cys)
c.1415C>G (p.Ser472Cys)
c.1121C>G (p.Ser374Cys)
c.1502C>G (p.Ser501Cys)
 dbSNP
2g.48688040G=CA1248600959GTF2A1L,LHCGR,STON1-GTF2A1Lc.1757C= (p.Ser586=)
c.*69C= (n.*69C=)
c.3441+16360G= (n.3441+16360G=)
c.*501C= (n.*501C=)
c.1676C= (p.Ser559=)
c.276+16360G= (n.276+16360G=)
c.*220+6184C= (n.*220+6184C=)
c.800C= (p.Ser267=)
c.827C= (p.Ser276=)
c.1682C= (p.Ser561=)
c.1496C= (p.Ser499=)
c.1415C= (p.Ser472=)
c.1121C= (p.Ser374=)
c.1502C= (p.Ser501=)
2g.48688040G>TCA346744714GTF2A1L,LHCGR,STON1-GTF2A1Lc.1757C>A (p.Ser586Tyr)
c.*69C>A (n.*69C>A)
c.3441+16360G>T (n.3441+16360G>T)
c.*501C>A (n.*501C>A)
c.1676C>A (p.Ser559Tyr)
c.276+16360G>T (n.276+16360G>T)
c.*220+6184C>A (n.*220+6184C>A)
c.800C>A (p.Ser267Tyr)
c.827C>A (p.Ser276Tyr)
c.1682C>A (p.Ser561Tyr)
c.1496C>A (p.Ser499Tyr)
c.1415C>A (p.Ser472Tyr)
c.1121C>A (p.Ser374Tyr)
c.1502C>A (p.Ser501Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.48688041A>CCA346744717GTF2A1L,LHCGR,STON1-GTF2A1Lc.1756T>G (p.Ser586Ala)
c.*68T>G (n.*68T>G)
c.3441+16361A>C (n.3441+16361A>C)
c.*500T>G (n.*500T>G)
c.1675T>G (p.Ser559Ala)
c.276+16361A>C (n.276+16361A>C)
c.*220+6183T>G (n.*220+6183T>G)
c.799T>G (p.Ser267Ala)
c.826T>G (p.Ser276Ala)
c.1681T>G (p.Ser561Ala)
c.1495T>G (p.Ser499Ala)
c.1414T>G (p.Ser472Ala)
c.1120T>G (p.Ser374Ala)
c.1501T>G (p.Ser501Ala)
2g.48688041A>GCA346744721GTF2A1L,LHCGR,STON1-GTF2A1Lc.1756T>C (p.Ser586Pro)
c.*68T>C (n.*68T>C)
c.3441+16361A>G (n.3441+16361A>G)
c.*500T>C (n.*500T>C)
c.1675T>C (p.Ser559Pro)
c.276+16361A>G (n.276+16361A>G)
c.*220+6183T>C (n.*220+6183T>C)
c.799T>C (p.Ser267Pro)
c.826T>C (p.Ser276Pro)
c.1681T>C (p.Ser561Pro)
c.1495T>C (p.Ser499Pro)
c.1414T>C (p.Ser472Pro)
c.1120T>C (p.Ser374Pro)
c.1501T>C (p.Ser501Pro)
2g.48688041A>TCA346744727GTF2A1L,LHCGR,STON1-GTF2A1Lc.1756T>A (p.Ser586Thr)
c.*68T>A (n.*68T>A)
c.3441+16361A>T (n.3441+16361A>T)
c.*500T>A (n.*500T>A)
c.1675T>A (p.Ser559Thr)
c.276+16361A>T (n.276+16361A>T)
c.*220+6183T>A (n.*220+6183T>A)
c.799T>A (p.Ser267Thr)
c.826T>A (p.Ser276Thr)
c.1681T>A (p.Ser561Thr)
c.1495T>A (p.Ser499Thr)
c.1414T>A (p.Ser472Thr)
c.1120T>A (p.Ser374Thr)
c.1501T>A (p.Ser501Thr)
2g.48688043_48688046delCA2586969303GTF2A1L,LHCGR,STON1-GTF2A1Lc.1753_1756del (p.Ile585LeufsTer16)
c.*65_*68del (n.*65_*68del)
c.3441+16363_3441+16366del (n.3441+16363_3441+16366del)
c.*497_*500del (n.*497_*500del)
c.1672_1675del (p.Ile558LeufsTer16)
c.276+16363_276+16366del (n.276+16363_276+16366del)
c.*220+6180_*220+6183del (n.*220+6180_*220+6183del)
c.796_799del (p.Ile266LeufsTer16)
c.823_826del (p.Ile275LeufsTer16)
c.1678_1681del (p.Ile560LeufsTer16)
c.1492_1495del (p.Ile498LeufsTer16)
c.1411_1414del (p.Ile471LeufsTer16)
c.1117_1120del (p.Ile373LeufsTer16)
c.1498_1501del (p.Ile500LeufsTer16)
 gnomAD v4
2g.48688042G>ACA426124914GTF2A1L,LHCGR,STON1-GTF2A1Lc.1755C>T (p.Ile585=)
c.*67C>T (n.*67C>T)
c.3441+16362G>A (n.3441+16362G>A)
c.*499C>T (n.*499C>T)
c.1674C>T (p.Ile558=)
c.276+16362G>A (n.276+16362G>A)
c.*220+6182C>T (n.*220+6182C>T)
c.798C>T (p.Ile266=)
c.825C>T (p.Ile275=)
c.1680C>T (p.Ile560=)
c.1494C>T (p.Ile498=)
c.1413C>T (p.Ile471=)
c.1119C>T (p.Ile373=)
c.1500C>T (p.Ile500=)
2g.48688042G>CCA46752775GTF2A1L,LHCGR,STON1-GTF2A1Lc.1755C>G (p.Ile585Met)
c.*67C>G (n.*67C>G)
c.3441+16362G>C (n.3441+16362G>C)
c.*499C>G (n.*499C>G)
c.1674C>G (p.Ile558Met)
c.276+16362G>C (n.276+16362G>C)
c.*220+6182C>G (n.*220+6182C>G)
c.798C>G (p.Ile266Met)
c.825C>G (p.Ile275Met)
c.1680C>G (p.Ile560Met)
c.1494C>G (p.Ile498Met)
c.1413C>G (p.Ile471Met)
c.1119C>G (p.Ile373Met)
c.1500C>G (p.Ile500Met)
 dbSNP gnomAD v4
2g.48688042G=CA1248600960GTF2A1L,LHCGR,STON1-GTF2A1Lc.1755C= (p.Ile585=)
c.*67C= (n.*67C=)
c.3441+16362G= (n.3441+16362G=)
c.*499C= (n.*499C=)
c.1674C= (p.Ile558=)
c.276+16362G= (n.276+16362G=)
c.*220+6182C= (n.*220+6182C=)
c.798C= (p.Ile266=)
c.825C= (p.Ile275=)
c.1680C= (p.Ile560=)
c.1494C= (p.Ile498=)
c.1413C= (p.Ile471=)
c.1119C= (p.Ile373=)
c.1500C= (p.Ile500=)
2g.48688042G>TCA426124915GTF2A1L,LHCGR,STON1-GTF2A1Lc.1755C>A (p.Ile585=)
c.*67C>A (n.*67C>A)
c.3441+16362G>T (n.3441+16362G>T)
c.*499C>A (n.*499C>A)
c.1674C>A (p.Ile558=)
c.276+16362G>T (n.276+16362G>T)
c.*220+6182C>A (n.*220+6182C>A)
c.798C>A (p.Ile266=)
c.825C>A (p.Ile275=)
c.1680C>A (p.Ile560=)
c.1494C>A (p.Ile498=)
c.1413C>A (p.Ile471=)
c.1119C>A (p.Ile373=)
c.1500C>A (p.Ile500=)
2g.48688043A=CA1248600961GTF2A1L,LHCGR,STON1-GTF2A1Lc.1754T= (p.Ile585=)
c.*66T= (n.*66T=)
c.3441+16363A= (n.3441+16363A=)
c.*498T= (n.*498T=)
c.1673T= (p.Ile558=)
c.276+16363A= (n.276+16363A=)
c.*220+6181T= (n.*220+6181T=)
c.797T= (p.Ile266=)
c.824T= (p.Ile275=)
c.1679T= (p.Ile560=)
c.1493T= (p.Ile498=)
c.1412T= (p.Ile471=)
c.1118T= (p.Ile373=)
c.1499T= (p.Ile500=)
2g.48688043A>CCA346744732GTF2A1L,LHCGR,STON1-GTF2A1Lc.1754T>G (p.Ile585Ser)
c.*66T>G (n.*66T>G)
c.3441+16363A>C (n.3441+16363A>C)
c.*498T>G (n.*498T>G)
c.1673T>G (p.Ile558Ser)
c.276+16363A>C (n.276+16363A>C)
c.*220+6181T>G (n.*220+6181T>G)
c.797T>G (p.Ile266Ser)
c.824T>G (p.Ile275Ser)
c.1679T>G (p.Ile560Ser)
c.1493T>G (p.Ile498Ser)
c.1412T>G (p.Ile471Ser)
c.1118T>G (p.Ile373Ser)
c.1499T>G (p.Ile500Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.48688043A>GCA346744740GTF2A1L,LHCGR,STON1-GTF2A1Lc.1754T>C (p.Ile585Thr)
c.*66T>C (n.*66T>C)
c.3441+16363A>G (n.3441+16363A>G)
c.*498T>C (n.*498T>C)
c.1673T>C (p.Ile558Thr)
c.276+16363A>G (n.276+16363A>G)
c.*220+6181T>C (n.*220+6181T>C)
c.797T>C (p.Ile266Thr)
c.824T>C (p.Ile275Thr)
c.1679T>C (p.Ile560Thr)
c.1493T>C (p.Ile498Thr)
c.1412T>C (p.Ile471Thr)
c.1118T>C (p.Ile373Thr)
c.1499T>C (p.Ile500Thr)
2g.48688043A>TCA346744734GTF2A1L,LHCGR,STON1-GTF2A1Lc.1754T>A (p.Ile585Asn)
c.*66T>A (n.*66T>A)
c.3441+16363A>T (n.3441+16363A>T)
c.*498T>A (n.*498T>A)
c.1673T>A (p.Ile558Asn)
c.276+16363A>T (n.276+16363A>T)
c.*220+6181T>A (n.*220+6181T>A)
c.797T>A (p.Ile266Asn)
c.824T>A (p.Ile275Asn)
c.1679T>A (p.Ile560Asn)
c.1493T>A (p.Ile498Asn)
c.1412T>A (p.Ile471Asn)
c.1118T>A (p.Ile373Asn)
c.1499T>A (p.Ile500Asn)
2g.48688044T>ACA1652994GTF2A1L,LHCGR,STON1-GTF2A1Lc.1753A>T (p.Ile585Phe)
c.*65A>T (n.*65A>T)
c.3441+16364T>A (n.3441+16364T>A)
c.*497A>T (n.*497A>T)
c.1672A>T (p.Ile558Phe)
c.276+16364T>A (n.276+16364T>A)
c.*220+6180A>T (n.*220+6180A>T)
c.796A>T (p.Ile266Phe)
c.823A>T (p.Ile275Phe)
c.1678A>T (p.Ile560Phe)
c.1492A>T (p.Ile498Phe)
c.1411A>T (p.Ile471Phe)
c.1117A>T (p.Ile373Phe)
c.1498A>T (p.Ile500Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688044T>CCA346744743GTF2A1L,LHCGR,STON1-GTF2A1Lc.1753A>G (p.Ile585Val)
c.*65A>G (n.*65A>G)
c.3441+16364T>C (n.3441+16364T>C)
c.*497A>G (n.*497A>G)
c.1672A>G (p.Ile558Val)
c.276+16364T>C (n.276+16364T>C)
c.*220+6180A>G (n.*220+6180A>G)
c.796A>G (p.Ile266Val)
c.823A>G (p.Ile275Val)
c.1678A>G (p.Ile560Val)
c.1492A>G (p.Ile498Val)
c.1411A>G (p.Ile471Val)
c.1117A>G (p.Ile373Val)
c.1498A>G (p.Ile500Val)
 dbSNP gnomAD v3 gnomAD v4
2g.48688044T>GCA346744753GTF2A1L,LHCGR,STON1-GTF2A1Lc.1753A>C (p.Ile585Leu)
c.*65A>C (n.*65A>C)
c.3441+16364T>G (n.3441+16364T>G)
c.*497A>C (n.*497A>C)
c.1672A>C (p.Ile558Leu)
c.276+16364T>G (n.276+16364T>G)
c.*220+6180A>C (n.*220+6180A>C)
c.796A>C (p.Ile266Leu)
c.823A>C (p.Ile275Leu)
c.1678A>C (p.Ile560Leu)
c.1492A>C (p.Ile498Leu)
c.1411A>C (p.Ile471Leu)
c.1117A>C (p.Ile373Leu)
c.1498A>C (p.Ile500Leu)
 gnomAD v4
2g.48688044T=CA1248600962GTF2A1L,LHCGR,STON1-GTF2A1Lc.1753A= (p.Ile585=)
c.*65A= (n.*65A=)
c.3441+16364T= (n.3441+16364T=)
c.*497A= (n.*497A=)
c.1672A= (p.Ile558=)
c.276+16364T= (n.276+16364T=)
c.*220+6180A= (n.*220+6180A=)
c.796A= (p.Ile266=)
c.823A= (p.Ile275=)
c.1678A= (p.Ile560=)
c.1492A= (p.Ile498=)
c.1411A= (p.Ile471=)
c.1117A= (p.Ile373=)
c.1498A= (p.Ile500=)
2g.48688045A=CA1248600963GTF2A1L,LHCGR,STON1-GTF2A1Lc.1752T= (p.Pro584=)
c.*64T= (n.*64T=)
c.3441+16365A= (n.3441+16365A=)
c.*496T= (n.*496T=)
c.1671T= (p.Pro557=)
c.276+16365A= (n.276+16365A=)
c.*220+6179T= (n.*220+6179T=)
c.795T= (p.Pro265=)
c.822T= (p.Pro274=)
c.1677T= (p.Pro559=)
c.1491T= (p.Pro497=)
c.1410T= (p.Pro470=)
c.1116T= (p.Pro372=)
c.1497T= (p.Pro499=)
2g.48688045A>CCA426124917GTF2A1L,LHCGR,STON1-GTF2A1Lc.1752T>G (p.Pro584=)
c.*64T>G (n.*64T>G)
c.3441+16365A>C (n.3441+16365A>C)
c.*496T>G (n.*496T>G)
c.1671T>G (p.Pro557=)
c.276+16365A>C (n.276+16365A>C)
c.*220+6179T>G (n.*220+6179T>G)
c.795T>G (p.Pro265=)
c.822T>G (p.Pro274=)
c.1677T>G (p.Pro559=)
c.1491T>G (p.Pro497=)
c.1410T>G (p.Pro470=)
c.1116T>G (p.Pro372=)
c.1497T>G (p.Pro499=)
2g.48688045A>GCA1652995GTF2A1L,LHCGR,STON1-GTF2A1Lc.1752T>C (p.Pro584=)
c.*64T>C (n.*64T>C)
c.3441+16365A>G (n.3441+16365A>G)
c.*496T>C (n.*496T>C)
c.1671T>C (p.Pro557=)
c.276+16365A>G (n.276+16365A>G)
c.*220+6179T>C (n.*220+6179T>C)
c.795T>C (p.Pro265=)
c.822T>C (p.Pro274=)
c.1677T>C (p.Pro559=)
c.1491T>C (p.Pro497=)
c.1410T>C (p.Pro470=)
c.1116T>C (p.Pro372=)
c.1497T>C (p.Pro499=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688045A>TCA426124916GTF2A1L,LHCGR,STON1-GTF2A1Lc.1752T>A (p.Pro584=)
c.*64T>A (n.*64T>A)
c.3441+16365A>T (n.3441+16365A>T)
c.*496T>A (n.*496T>A)
c.1671T>A (p.Pro557=)
c.276+16365A>T (n.276+16365A>T)
c.*220+6179T>A (n.*220+6179T>A)
c.795T>A (p.Pro265=)
c.822T>A (p.Pro274=)
c.1677T>A (p.Pro559=)
c.1491T>A (p.Pro497=)
c.1410T>A (p.Pro470=)
c.1116T>A (p.Pro372=)
c.1497T>A (p.Pro499=)
2g.48688046G>ACA346744756GTF2A1L,LHCGR,STON1-GTF2A1Lc.1751C>T (p.Pro584Leu)
c.*63C>T (n.*63C>T)
c.3441+16366G>A (n.3441+16366G>A)
c.*495C>T (n.*495C>T)
c.1670C>T (p.Pro557Leu)
c.276+16366G>A (n.276+16366G>A)
c.*220+6178C>T (n.*220+6178C>T)
c.794C>T (p.Pro265Leu)
c.821C>T (p.Pro274Leu)
c.1676C>T (p.Pro559Leu)
c.1490C>T (p.Pro497Leu)
c.1409C>T (p.Pro470Leu)
c.1115C>T (p.Pro372Leu)
c.1496C>T (p.Pro499Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.48688046G>CCA346744758GTF2A1L,LHCGR,STON1-GTF2A1Lc.1751C>G (p.Pro584Arg)
c.*63C>G (n.*63C>G)
c.3441+16366G>C (n.3441+16366G>C)
c.*495C>G (n.*495C>G)
c.1670C>G (p.Pro557Arg)
c.276+16366G>C (n.276+16366G>C)
c.*220+6178C>G (n.*220+6178C>G)
c.794C>G (p.Pro265Arg)
c.821C>G (p.Pro274Arg)
c.1676C>G (p.Pro559Arg)
c.1490C>G (p.Pro497Arg)
c.1409C>G (p.Pro470Arg)
c.1115C>G (p.Pro372Arg)
c.1496C>G (p.Pro499Arg)
2g.48688046G=CA1248600964GTF2A1L,LHCGR,STON1-GTF2A1Lc.1751C= (p.Pro584=)
c.*63C= (n.*63C=)
c.3441+16366G= (n.3441+16366G=)
c.*495C= (n.*495C=)
c.1670C= (p.Pro557=)
c.276+16366G= (n.276+16366G=)
c.*220+6178C= (n.*220+6178C=)
c.794C= (p.Pro265=)
c.821C= (p.Pro274=)
c.1676C= (p.Pro559=)
c.1490C= (p.Pro497=)
c.1409C= (p.Pro470=)
c.1115C= (p.Pro372=)
c.1496C= (p.Pro499=)
2g.48688046G>TCA346744757GTF2A1L,LHCGR,STON1-GTF2A1Lc.1751C>A (p.Pro584His)
c.*63C>A (n.*63C>A)
c.3441+16366G>T (n.3441+16366G>T)
c.*495C>A (n.*495C>A)
c.1670C>A (p.Pro557His)
c.276+16366G>T (n.276+16366G>T)
c.*220+6178C>A (n.*220+6178C>A)
c.794C>A (p.Pro265His)
c.821C>A (p.Pro274His)
c.1676C>A (p.Pro559His)
c.1490C>A (p.Pro497His)
c.1409C>A (p.Pro470His)
c.1115C>A (p.Pro372His)
c.1496C>A (p.Pro499His)
2g.48688047G>ACA346744761GTF2A1L,LHCGR,STON1-GTF2A1Lc.1750C>T (p.Pro584Ser)
c.*62C>T (n.*62C>T)
c.3441+16367G>A (n.3441+16367G>A)
c.*494C>T (n.*494C>T)
c.1669C>T (p.Pro557Ser)
c.276+16367G>A (n.276+16367G>A)
c.*220+6177C>T (n.*220+6177C>T)
c.793C>T (p.Pro265Ser)
c.820C>T (p.Pro274Ser)
c.1675C>T (p.Pro559Ser)
c.1489C>T (p.Pro497Ser)
c.1408C>T (p.Pro470Ser)
c.1114C>T (p.Pro372Ser)
c.1495C>T (p.Pro499Ser)
2g.48688047G>CCA346744762GTF2A1L,LHCGR,STON1-GTF2A1Lc.1750C>G (p.Pro584Ala)
c.*62C>G (n.*62C>G)
c.3441+16367G>C (n.3441+16367G>C)
c.*494C>G (n.*494C>G)
c.1669C>G (p.Pro557Ala)
c.276+16367G>C (n.276+16367G>C)
c.*220+6177C>G (n.*220+6177C>G)
c.793C>G (p.Pro265Ala)
c.820C>G (p.Pro274Ala)
c.1675C>G (p.Pro559Ala)
c.1489C>G (p.Pro497Ala)
c.1408C>G (p.Pro470Ala)
c.1114C>G (p.Pro372Ala)
c.1495C>G (p.Pro499Ala)
2g.48688047G>TCA346744764GTF2A1L,LHCGR,STON1-GTF2A1Lc.1750C>A (p.Pro584Thr)
c.*62C>A (n.*62C>A)
c.3441+16367G>T (n.3441+16367G>T)
c.*494C>A (n.*494C>A)
c.1669C>A (p.Pro557Thr)
c.276+16367G>T (n.276+16367G>T)
c.*220+6177C>A (n.*220+6177C>A)
c.793C>A (p.Pro265Thr)
c.820C>A (p.Pro274Thr)
c.1675C>A (p.Pro559Thr)
c.1489C>A (p.Pro497Thr)
c.1408C>A (p.Pro470Thr)
c.1114C>A (p.Pro372Thr)
c.1495C>A (p.Pro499Thr)
2g.48688048T>ACA426124918GTF2A1L,LHCGR,STON1-GTF2A1Lc.1749A>T (p.Ala583=)
c.*61A>T (n.*61A>T)
c.3441+16368T>A (n.3441+16368T>A)
c.*493A>T (n.*493A>T)
c.1668A>T (p.Ala556=)
c.276+16368T>A (n.276+16368T>A)
c.*220+6176A>T (n.*220+6176A>T)
c.792A>T (p.Ala264=)
c.819A>T (p.Ala273=)
c.1674A>T (p.Ala558=)
c.1488A>T (p.Ala496=)
c.1407A>T (p.Ala469=)
c.1113A>T (p.Ala371=)
c.1494A>T (p.Ala498=)
2g.48688048T>CCA426124919GTF2A1L,LHCGR,STON1-GTF2A1Lc.1749A>G (p.Ala583=)
c.*61A>G (n.*61A>G)
c.3441+16368T>C (n.3441+16368T>C)
c.*493A>G (n.*493A>G)
c.1668A>G (p.Ala556=)
c.276+16368T>C (n.276+16368T>C)
c.*220+6176A>G (n.*220+6176A>G)
c.792A>G (p.Ala264=)
c.819A>G (p.Ala273=)
c.1674A>G (p.Ala558=)
c.1488A>G (p.Ala496=)
c.1407A>G (p.Ala469=)
c.1113A>G (p.Ala371=)
c.1494A>G (p.Ala498=)
 gnomAD v4
2g.48688048T>GCA426124920GTF2A1L,LHCGR,STON1-GTF2A1Lc.1749A>C (p.Ala583=)
c.*61A>C (n.*61A>C)
c.3441+16368T>G (n.3441+16368T>G)
c.*493A>C (n.*493A>C)
c.1668A>C (p.Ala556=)
c.276+16368T>G (n.276+16368T>G)
c.*220+6176A>C (n.*220+6176A>C)
c.792A>C (p.Ala264=)
c.819A>C (p.Ala273=)
c.1674A>C (p.Ala558=)
c.1488A>C (p.Ala496=)
c.1407A>C (p.Ala469=)
c.1113A>C (p.Ala371=)
c.1494A>C (p.Ala498=)
2g.48688049G>ACA346744766GTF2A1L,LHCGR,STON1-GTF2A1Lc.1748C>T (p.Ala583Val)
c.*60C>T (n.*60C>T)
c.3441+16369G>A (n.3441+16369G>A)
c.*492C>T (n.*492C>T)
c.1667C>T (p.Ala556Val)
c.276+16369G>A (n.276+16369G>A)
c.*220+6175C>T (n.*220+6175C>T)
c.791C>T (p.Ala264Val)
c.818C>T (p.Ala273Val)
c.1673C>T (p.Ala558Val)
c.1487C>T (p.Ala496Val)
c.1406C>T (p.Ala469Val)
c.1112C>T (p.Ala371Val)
c.1493C>T (p.Ala498Val)
 dbSNP
2g.48688049G>CCA346744769GTF2A1L,LHCGR,STON1-GTF2A1Lc.1748C>G (p.Ala583Gly)
c.*60C>G (n.*60C>G)
c.3441+16369G>C (n.3441+16369G>C)
c.*492C>G (n.*492C>G)
c.1667C>G (p.Ala556Gly)
c.276+16369G>C (n.276+16369G>C)
c.*220+6175C>G (n.*220+6175C>G)
c.791C>G (p.Ala264Gly)
c.818C>G (p.Ala273Gly)
c.1673C>G (p.Ala558Gly)
c.1487C>G (p.Ala496Gly)
c.1406C>G (p.Ala469Gly)
c.1112C>G (p.Ala371Gly)
c.1493C>G (p.Ala498Gly)
2g.48688049G=CA1248600965GTF2A1L,LHCGR,STON1-GTF2A1Lc.1748C= (p.Ala583=)
c.*60C= (n.*60C=)
c.3441+16369G= (n.3441+16369G=)
c.*492C= (n.*492C=)
c.1667C= (p.Ala556=)
c.276+16369G= (n.276+16369G=)
c.*220+6175C= (n.*220+6175C=)
c.791C= (p.Ala264=)
c.818C= (p.Ala273=)
c.1673C= (p.Ala558=)
c.1487C= (p.Ala496=)
c.1406C= (p.Ala469=)
c.1112C= (p.Ala371=)
c.1493C= (p.Ala498=)
2g.48688049G>TCA346744775GTF2A1L,LHCGR,STON1-GTF2A1Lc.1748C>A (p.Ala583Glu)
c.*60C>A (n.*60C>A)
c.3441+16369G>T (n.3441+16369G>T)
c.*492C>A (n.*492C>A)
c.1667C>A (p.Ala556Glu)
c.276+16369G>T (n.276+16369G>T)
c.*220+6175C>A (n.*220+6175C>A)
c.791C>A (p.Ala264Glu)
c.818C>A (p.Ala273Glu)
c.1673C>A (p.Ala558Glu)
c.1487C>A (p.Ala496Glu)
c.1406C>A (p.Ala469Glu)
c.1112C>A (p.Ala371Glu)
c.1493C>A (p.Ala498Glu)
 dbSNP gnomAD v4
2g.48688050C>ACA346744778GTF2A1L,LHCGR,STON1-GTF2A1Lc.1747G>T (p.Ala583Ser)
c.*59G>T (n.*59G>T)
c.3441+16370C>A (n.3441+16370C>A)
c.*491G>T (n.*491G>T)
c.1666G>T (p.Ala556Ser)
c.276+16370C>A (n.276+16370C>A)
c.*220+6174G>T (n.*220+6174G>T)
c.790G>T (p.Ala264Ser)
c.817G>T (p.Ala273Ser)
c.1672G>T (p.Ala558Ser)
c.1486G>T (p.Ala496Ser)
c.1405G>T (p.Ala469Ser)
c.1111G>T (p.Ala371Ser)
c.1492G>T (p.Ala498Ser)
2g.48688050C=CA1248600966GTF2A1L,LHCGR,STON1-GTF2A1Lc.1747G= (p.Ala583=)
c.*59G= (n.*59G=)
c.3441+16370C= (n.3441+16370C=)
c.*491G= (n.*491G=)
c.1666G= (p.Ala556=)
c.276+16370C= (n.276+16370C=)
c.*220+6174G= (n.*220+6174G=)
c.790G= (p.Ala264=)
c.817G= (p.Ala273=)
c.1672G= (p.Ala558=)
c.1486G= (p.Ala496=)
c.1405G= (p.Ala469=)
c.1111G= (p.Ala371=)
c.1492G= (p.Ala498=)
2g.48688050C>GCA346744779GTF2A1L,LHCGR,STON1-GTF2A1Lc.1747G>C (p.Ala583Pro)
c.*59G>C (n.*59G>C)
c.3441+16370C>G (n.3441+16370C>G)
c.*491G>C (n.*491G>C)
c.1666G>C (p.Ala556Pro)
c.276+16370C>G (n.276+16370C>G)
c.*220+6174G>C (n.*220+6174G>C)
c.790G>C (p.Ala264Pro)
c.817G>C (p.Ala273Pro)
c.1672G>C (p.Ala558Pro)
c.1486G>C (p.Ala496Pro)
c.1405G>C (p.Ala469Pro)
c.1111G>C (p.Ala371Pro)
c.1492G>C (p.Ala498Pro)
2g.48688050C>TCA346744782GTF2A1L,LHCGR,STON1-GTF2A1Lc.1747G>A (p.Ala583Thr)
c.*59G>A (n.*59G>A)
c.3441+16370C>T (n.3441+16370C>T)
c.*491G>A (n.*491G>A)
c.1666G>A (p.Ala556Thr)
c.276+16370C>T (n.276+16370C>T)
c.*220+6174G>A (n.*220+6174G>A)
c.790G>A (p.Ala264Thr)
c.817G>A (p.Ala273Thr)
c.1672G>A (p.Ala558Thr)
c.1486G>A (p.Ala496Thr)
c.1405G>A (p.Ala469Thr)
c.1111G>A (p.Ala371Thr)
c.1492G>A (p.Ala498Thr)
 dbSNP gnomAD v4 COSMIC
2g.48688051C>ACA346744786GTF2A1L,LHCGR,STON1-GTF2A1Lc.1746G>T (p.Met582Ile)
c.*58G>T (n.*58G>T)
c.3441+16371C>A (n.3441+16371C>A)
c.*490G>T (n.*490G>T)
c.1665G>T (p.Met555Ile)
c.276+16371C>A (n.276+16371C>A)
c.*220+6173G>T (n.*220+6173G>T)
c.789G>T (p.Met263Ile)
c.816G>T (p.Met272Ile)
c.1671G>T (p.Met557Ile)
c.1485G>T (p.Met495Ile)
c.1404G>T (p.Met468Ile)
c.1110G>T (p.Met370Ile)
c.1491G>T (p.Met497Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.48688051C=CA1248600967GTF2A1L,LHCGR,STON1-GTF2A1Lc.1746G= (p.Met582=)
c.*58G= (n.*58G=)
c.3441+16371C= (n.3441+16371C=)
c.*490G= (n.*490G=)
c.1665G= (p.Met555=)
c.276+16371C= (n.276+16371C=)
c.*220+6173G= (n.*220+6173G=)
c.789G= (p.Met263=)
c.816G= (p.Met272=)
c.1671G= (p.Met557=)
c.1485G= (p.Met495=)
c.1404G= (p.Met468=)
c.1110G= (p.Met370=)
c.1491G= (p.Met497=)
2g.48688051C>GCA346744789GTF2A1L,LHCGR,STON1-GTF2A1Lc.1746G>C (p.Met582Ile)
c.*58G>C (n.*58G>C)
c.3441+16371C>G (n.3441+16371C>G)
c.*490G>C (n.*490G>C)
c.1665G>C (p.Met555Ile)
c.276+16371C>G (n.276+16371C>G)
c.*220+6173G>C (n.*220+6173G>C)
c.789G>C (p.Met263Ile)
c.816G>C (p.Met272Ile)
c.1671G>C (p.Met557Ile)
c.1485G>C (p.Met495Ile)
c.1404G>C (p.Met468Ile)
c.1110G>C (p.Met370Ile)
c.1491G>C (p.Met497Ile)
2g.48688051C>TCA346744790GTF2A1L,LHCGR,STON1-GTF2A1Lc.1746G>A (p.Met582Ile)
c.*58G>A (n.*58G>A)
c.3441+16371C>T (n.3441+16371C>T)
c.*490G>A (n.*490G>A)
c.1665G>A (p.Met555Ile)
c.276+16371C>T (n.276+16371C>T)
c.*220+6173G>A (n.*220+6173G>A)
c.789G>A (p.Met263Ile)
c.816G>A (p.Met272Ile)
c.1671G>A (p.Met557Ile)
c.1485G>A (p.Met495Ile)
c.1404G>A (p.Met468Ile)
c.1110G>A (p.Met370Ile)
c.1491G>A (p.Met497Ile)
2g.48688052A=CA1248600968GTF2A1L,LHCGR,STON1-GTF2A1Lc.1745T= (p.Met582=)
c.*57T= (n.*57T=)
c.3441+16372A= (n.3441+16372A=)
c.*489T= (n.*489T=)
c.1664T= (p.Met555=)
c.276+16372A= (n.276+16372A=)
c.*220+6172T= (n.*220+6172T=)
c.788T= (p.Met263=)
c.815T= (p.Met272=)
c.1670T= (p.Met557=)
c.1484T= (p.Met495=)
c.1403T= (p.Met468=)
c.1109T= (p.Met370=)
c.1490T= (p.Met497=)
2g.48688052A>CCA346744793GTF2A1L,LHCGR,STON1-GTF2A1Lc.1745T>G (p.Met582Arg)
c.*57T>G (n.*57T>G)
c.3441+16372A>C (n.3441+16372A>C)
c.*489T>G (n.*489T>G)
c.1664T>G (p.Met555Arg)
c.276+16372A>C (n.276+16372A>C)
c.*220+6172T>G (n.*220+6172T>G)
c.788T>G (p.Met263Arg)
c.815T>G (p.Met272Arg)
c.1670T>G (p.Met557Arg)
c.1484T>G (p.Met495Arg)
c.1403T>G (p.Met468Arg)
c.1109T>G (p.Met370Arg)
c.1490T>G (p.Met497Arg)
2g.48688052A>GCA346744792GTF2A1L,LHCGR,STON1-GTF2A1Lc.1745T>C (p.Met582Thr)
c.*57T>C (n.*57T>C)
c.3441+16372A>G (n.3441+16372A>G)
c.*489T>C (n.*489T>C)
c.1664T>C (p.Met555Thr)
c.276+16372A>G (n.276+16372A>G)
c.*220+6172T>C (n.*220+6172T>C)
c.788T>C (p.Met263Thr)
c.815T>C (p.Met272Thr)
c.1670T>C (p.Met557Thr)
c.1484T>C (p.Met495Thr)
c.1403T>C (p.Met468Thr)
c.1109T>C (p.Met370Thr)
c.1490T>C (p.Met497Thr)
 dbSNP COSMIC
2g.48688052A>TCA346744791GTF2A1L,LHCGR,STON1-GTF2A1Lc.1745T>A (p.Met582Lys)
c.*57T>A (n.*57T>A)
c.3441+16372A>T (n.3441+16372A>T)
c.*489T>A (n.*489T>A)
c.1664T>A (p.Met555Lys)
c.276+16372A>T (n.276+16372A>T)
c.*220+6172T>A (n.*220+6172T>A)
c.788T>A (p.Met263Lys)
c.815T>A (p.Met272Lys)
c.1670T>A (p.Met557Lys)
c.1484T>A (p.Met495Lys)
c.1403T>A (p.Met468Lys)
c.1109T>A (p.Met370Lys)
c.1490T>A (p.Met497Lys)
2g.48688053T>ACA346744794GTF2A1L,LHCGR,STON1-GTF2A1Lc.1744A>T (p.Met582Leu)
c.*56A>T (n.*56A>T)
c.3441+16373T>A (n.3441+16373T>A)
c.*488A>T (n.*488A>T)
c.1663A>T (p.Met555Leu)
c.276+16373T>A (n.276+16373T>A)
c.*220+6171A>T (n.*220+6171A>T)
c.787A>T (p.Met263Leu)
c.814A>T (p.Met272Leu)
c.1669A>T (p.Met557Leu)
c.1483A>T (p.Met495Leu)
c.1402A>T (p.Met468Leu)
c.1108A>T (p.Met370Leu)
c.1489A>T (p.Met497Leu)
2g.48688053T>CCA346744805GTF2A1L,LHCGR,STON1-GTF2A1Lc.1744A>G (p.Met582Val)
c.*56A>G (n.*56A>G)
c.3441+16373T>C (n.3441+16373T>C)
c.*488A>G (n.*488A>G)
c.1663A>G (p.Met555Val)
c.276+16373T>C (n.276+16373T>C)
c.*220+6171A>G (n.*220+6171A>G)
c.787A>G (p.Met263Val)
c.814A>G (p.Met272Val)
c.1669A>G (p.Met557Val)
c.1483A>G (p.Met495Val)
c.1402A>G (p.Met468Val)
c.1108A>G (p.Met370Val)
c.1489A>G (p.Met497Val)
 gnomAD v4
2g.48688053T>GCA346744798GTF2A1L,LHCGR,STON1-GTF2A1Lc.1744A>C (p.Met582Leu)
c.*56A>C (n.*56A>C)
c.3441+16373T>G (n.3441+16373T>G)
c.*488A>C (n.*488A>C)
c.1663A>C (p.Met555Leu)
c.276+16373T>G (n.276+16373T>G)
c.*220+6171A>C (n.*220+6171A>C)
c.787A>C (p.Met263Leu)
c.814A>C (p.Met272Leu)
c.1669A>C (p.Met557Leu)
c.1483A>C (p.Met495Leu)
c.1402A>C (p.Met468Leu)
c.1108A>C (p.Met370Leu)
c.1489A>C (p.Met497Leu)
2g.48688054G>ACA426124921GTF2A1L,LHCGR,STON1-GTF2A1Lc.1743C>T (p.Cys581=)
c.*55C>T (n.*55C>T)
c.3441+16374G>A (n.3441+16374G>A)
c.*487C>T (n.*487C>T)
c.1662C>T (p.Cys554=)
c.276+16374G>A (n.276+16374G>A)
c.*220+6170C>T (n.*220+6170C>T)
c.786C>T (p.Cys262=)
c.813C>T (p.Cys271=)
c.1668C>T (p.Cys556=)
c.1482C>T (p.Cys494=)
c.1401C>T (p.Cys467=)
c.1107C>T (p.Cys369=)
c.1488C>T (p.Cys496=)
2g.48688054G>CCA346744809GTF2A1L,LHCGR,STON1-GTF2A1Lc.1743C>G (p.Cys581Trp)
c.*55C>G (n.*55C>G)
c.3441+16374G>C (n.3441+16374G>C)
c.*487C>G (n.*487C>G)
c.1662C>G (p.Cys554Trp)
c.276+16374G>C (n.276+16374G>C)
c.*220+6170C>G (n.*220+6170C>G)
c.786C>G (p.Cys262Trp)
c.813C>G (p.Cys271Trp)
c.1668C>G (p.Cys556Trp)
c.1482C>G (p.Cys494Trp)
c.1401C>G (p.Cys467Trp)
c.1107C>G (p.Cys369Trp)
c.1488C>G (p.Cys496Trp)
2g.48688054G>TCA346744810GTF2A1L,LHCGR,STON1-GTF2A1Lc.1743C>A (p.Cys581Ter)
c.*55C>A (n.*55C>A)
c.3441+16374G>T (n.3441+16374G>T)
c.*487C>A (n.*487C>A)
c.1662C>A (p.Cys554Ter)
c.276+16374G>T (n.276+16374G>T)
c.*220+6170C>A (n.*220+6170C>A)
c.786C>A (p.Cys262Ter)
c.813C>A (p.Cys271Ter)
c.1668C>A (p.Cys556Ter)
c.1482C>A (p.Cys494Ter)
c.1401C>A (p.Cys467Ter)
c.1107C>A (p.Cys369Ter)
c.1488C>A (p.Cys496Ter)
2g.48688055C>ACA346744814GTF2A1L,LHCGR,STON1-GTF2A1Lc.1742G>T (p.Cys581Phe)
c.*54G>T (n.*54G>T)
c.3441+16375C>A (n.3441+16375C>A)
c.*486G>T (n.*486G>T)
c.1661G>T (p.Cys554Phe)
c.276+16375C>A (n.276+16375C>A)
c.*220+6169G>T (n.*220+6169G>T)
c.785G>T (p.Cys262Phe)
c.812G>T (p.Cys271Phe)
c.1667G>T (p.Cys556Phe)
c.1481G>T (p.Cys494Phe)
c.1400G>T (p.Cys467Phe)
c.1106G>T (p.Cys369Phe)
c.1487G>T (p.Cys496Phe)
2g.48688055C>GCA346744829GTF2A1L,LHCGR,STON1-GTF2A1Lc.1742G>C (p.Cys581Ser)
c.*54G>C (n.*54G>C)
c.3441+16375C>G (n.3441+16375C>G)
c.*486G>C (n.*486G>C)
c.1661G>C (p.Cys554Ser)
c.276+16375C>G (n.276+16375C>G)
c.*220+6169G>C (n.*220+6169G>C)
c.785G>C (p.Cys262Ser)
c.812G>C (p.Cys271Ser)
c.1667G>C (p.Cys556Ser)
c.1481G>C (p.Cys494Ser)
c.1400G>C (p.Cys467Ser)
c.1106G>C (p.Cys369Ser)
c.1487G>C (p.Cys496Ser)
 gnomAD v4
2g.48688055C>TCA346744833GTF2A1L,LHCGR,STON1-GTF2A1Lc.1742G>A (p.Cys581Tyr)
c.*54G>A (n.*54G>A)
c.3441+16375C>T (n.3441+16375C>T)
c.*486G>A (n.*486G>A)
c.1661G>A (p.Cys554Tyr)
c.276+16375C>T (n.276+16375C>T)
c.*220+6169G>A (n.*220+6169G>A)
c.785G>A (p.Cys262Tyr)
c.812G>A (p.Cys271Tyr)
c.1667G>A (p.Cys556Tyr)
c.1481G>A (p.Cys494Tyr)
c.1400G>A (p.Cys467Tyr)
c.1106G>A (p.Cys369Tyr)
c.1487G>A (p.Cys496Tyr)
2g.48688056A>CCA346744835GTF2A1L,LHCGR,STON1-GTF2A1Lc.1741T>G (p.Cys581Gly)
c.*53T>G (n.*53T>G)
c.3441+16376A>C (n.3441+16376A>C)
c.*485T>G (n.*485T>G)
c.1660T>G (p.Cys554Gly)
c.276+16376A>C (n.276+16376A>C)
c.*220+6168T>G (n.*220+6168T>G)
c.784T>G (p.Cys262Gly)
c.811T>G (p.Cys271Gly)
c.1666T>G (p.Cys556Gly)
c.1480T>G (p.Cys494Gly)
c.1399T>G (p.Cys467Gly)
c.1105T>G (p.Cys369Gly)
c.1486T>G (p.Cys496Gly)
2g.48688056A>GCA346744840GTF2A1L,LHCGR,STON1-GTF2A1Lc.1741T>C (p.Cys581Arg)
c.*53T>C (n.*53T>C)
c.3441+16376A>G (n.3441+16376A>G)
c.*485T>C (n.*485T>C)
c.1660T>C (p.Cys554Arg)
c.276+16376A>G (n.276+16376A>G)
c.*220+6168T>C (n.*220+6168T>C)
c.784T>C (p.Cys262Arg)
c.811T>C (p.Cys271Arg)
c.1666T>C (p.Cys556Arg)
c.1480T>C (p.Cys494Arg)
c.1399T>C (p.Cys467Arg)
c.1105T>C (p.Cys369Arg)
c.1486T>C (p.Cys496Arg)
2g.48688056A>TCA346744842GTF2A1L,LHCGR,STON1-GTF2A1Lc.1741T>A (p.Cys581Ser)
c.*53T>A (n.*53T>A)
c.3441+16376A>T (n.3441+16376A>T)
c.*485T>A (n.*485T>A)
c.1660T>A (p.Cys554Ser)
c.276+16376A>T (n.276+16376A>T)
c.*220+6168T>A (n.*220+6168T>A)
c.784T>A (p.Cys262Ser)
c.811T>A (p.Cys271Ser)
c.1666T>A (p.Cys556Ser)
c.1480T>A (p.Cys494Ser)
c.1399T>A (p.Cys467Ser)
c.1105T>A (p.Cys369Ser)
c.1486T>A (p.Cys496Ser)
2g.48688057G>ACA426124922GTF2A1L,LHCGR,STON1-GTF2A1Lc.1740C>T (p.Thr580=)
c.*52C>T (n.*52C>T)
c.3441+16377G>A (n.3441+16377G>A)
c.*484C>T (n.*484C>T)
c.1659C>T (p.Thr553=)
c.276+16377G>A (n.276+16377G>A)
c.*220+6167C>T (n.*220+6167C>T)
c.783C>T (p.Thr261=)
c.810C>T (p.Thr270=)
c.1665C>T (p.Thr555=)
c.1479C>T (p.Thr493=)
c.1398C>T (p.Thr466=)
c.1104C>T (p.Thr368=)
c.1485C>T (p.Thr495=)
2g.48688057G>CCA426124923GTF2A1L,LHCGR,STON1-GTF2A1Lc.1740C>G (p.Thr580=)
c.*52C>G (n.*52C>G)
c.3441+16377G>C (n.3441+16377G>C)
c.*484C>G (n.*484C>G)
c.1659C>G (p.Thr553=)
c.276+16377G>C (n.276+16377G>C)
c.*220+6167C>G (n.*220+6167C>G)
c.783C>G (p.Thr261=)
c.810C>G (p.Thr270=)
c.1665C>G (p.Thr555=)
c.1479C>G (p.Thr493=)
c.1398C>G (p.Thr466=)
c.1104C>G (p.Thr368=)
c.1485C>G (p.Thr495=)
2g.48688057G>TCA426124924GTF2A1L,LHCGR,STON1-GTF2A1Lc.1740C>A (p.Thr580=)
c.*52C>A (n.*52C>A)
c.3441+16377G>T (n.3441+16377G>T)
c.*484C>A (n.*484C>A)
c.1659C>A (p.Thr553=)
c.276+16377G>T (n.276+16377G>T)
c.*220+6167C>A (n.*220+6167C>A)
c.783C>A (p.Thr261=)
c.810C>A (p.Thr270=)
c.1665C>A (p.Thr555=)
c.1479C>A (p.Thr493=)
c.1398C>A (p.Thr466=)
c.1104C>A (p.Thr368=)
c.1485C>A (p.Thr495=)
2g.48688058G>ACA1652996GTF2A1L,LHCGR,STON1-GTF2A1Lc.1739C>T (p.Thr580Ile)
c.*51C>T (n.*51C>T)
c.3441+16378G>A (n.3441+16378G>A)
c.*483C>T (n.*483C>T)
c.1658C>T (p.Thr553Ile)
c.276+16378G>A (n.276+16378G>A)
c.*220+6166C>T (n.*220+6166C>T)
c.782C>T (p.Thr261Ile)
c.809C>T (p.Thr270Ile)
c.1664C>T (p.Thr555Ile)
c.1478C>T (p.Thr493Ile)
c.1397C>T (p.Thr466Ile)
c.1103C>T (p.Thr368Ile)
c.1484C>T (p.Thr495Ile)
 dbSNP ExAC gnomAD v2
2g.48688058G>CCA346744852GTF2A1L,LHCGR,STON1-GTF2A1Lc.1739C>G (p.Thr580Ser)
c.*51C>G (n.*51C>G)
c.3441+16378G>C (n.3441+16378G>C)
c.*483C>G (n.*483C>G)
c.1658C>G (p.Thr553Ser)
c.276+16378G>C (n.276+16378G>C)
c.*220+6166C>G (n.*220+6166C>G)
c.782C>G (p.Thr261Ser)
c.809C>G (p.Thr270Ser)
c.1664C>G (p.Thr555Ser)
c.1478C>G (p.Thr493Ser)
c.1397C>G (p.Thr466Ser)
c.1103C>G (p.Thr368Ser)
c.1484C>G (p.Thr495Ser)
2g.48688058G=CA1248600969GTF2A1L,LHCGR,STON1-GTF2A1Lc.1739C= (p.Thr580=)
c.*51C= (n.*51C=)
c.3441+16378G= (n.3441+16378G=)
c.*483C= (n.*483C=)
c.1658C= (p.Thr553=)
c.276+16378G= (n.276+16378G=)
c.*220+6166C= (n.*220+6166C=)
c.782C= (p.Thr261=)
c.809C= (p.Thr270=)
c.1664C= (p.Thr555=)
c.1478C= (p.Thr493=)
c.1397C= (p.Thr466=)
c.1103C= (p.Thr368=)
c.1484C= (p.Thr495=)
2g.48688058G>TCA346744856GTF2A1L,LHCGR,STON1-GTF2A1Lc.1739C>A (p.Thr580Asn)
c.*51C>A (n.*51C>A)
c.3441+16378G>T (n.3441+16378G>T)
c.*483C>A (n.*483C>A)
c.1658C>A (p.Thr553Asn)
c.276+16378G>T (n.276+16378G>T)
c.*220+6166C>A (n.*220+6166C>A)
c.782C>A (p.Thr261Asn)
c.809C>A (p.Thr270Asn)
c.1664C>A (p.Thr555Asn)
c.1478C>A (p.Thr493Asn)
c.1397C>A (p.Thr466Asn)
c.1103C>A (p.Thr368Asn)
c.1484C>A (p.Thr495Asn)
 dbSNP
2g.48688059T>ACA346744859GTF2A1L,LHCGR,STON1-GTF2A1Lc.1738A>T (p.Thr580Ser)
c.*50A>T (n.*50A>T)
c.3441+16379T>A (n.3441+16379T>A)
c.*482A>T (n.*482A>T)
c.1657A>T (p.Thr553Ser)
c.276+16379T>A (n.276+16379T>A)
c.*220+6165A>T (n.*220+6165A>T)
c.781A>T (p.Thr261Ser)
c.808A>T (p.Thr270Ser)
c.1663A>T (p.Thr555Ser)
c.1477A>T (p.Thr493Ser)
c.1396A>T (p.Thr466Ser)
c.1102A>T (p.Thr368Ser)
c.1483A>T (p.Thr495Ser)
2g.48688059T>CCA346744861GTF2A1L,LHCGR,STON1-GTF2A1Lc.1738A>G (p.Thr580Ala)
c.*50A>G (n.*50A>G)
c.3441+16379T>C (n.3441+16379T>C)
c.*482A>G (n.*482A>G)
c.1657A>G (p.Thr553Ala)
c.276+16379T>C (n.276+16379T>C)
c.*220+6165A>G (n.*220+6165A>G)
c.781A>G (p.Thr261Ala)
c.808A>G (p.Thr270Ala)
c.1663A>G (p.Thr555Ala)
c.1477A>G (p.Thr493Ala)
c.1396A>G (p.Thr466Ala)
c.1102A>G (p.Thr368Ala)
c.1483A>G (p.Thr495Ala)
2g.48688059T>GCA346744872GTF2A1L,LHCGR,STON1-GTF2A1Lc.1738A>C (p.Thr580Pro)
c.*50A>C (n.*50A>C)
c.3441+16379T>G (n.3441+16379T>G)
c.*482A>C (n.*482A>C)
c.1657A>C (p.Thr553Pro)
c.276+16379T>G (n.276+16379T>G)
c.*220+6165A>C (n.*220+6165A>C)
c.781A>C (p.Thr261Pro)
c.808A>C (p.Thr270Pro)
c.1663A>C (p.Thr555Pro)
c.1477A>C (p.Thr493Pro)
c.1396A>C (p.Thr466Pro)
c.1102A>C (p.Thr368Pro)
c.1483A>C (p.Thr495Pro)
2g.48688060G>ACA426124925GTF2A1L,LHCGR,STON1-GTF2A1Lc.1737C>T (p.Phe579=)
c.*49C>T (n.*49C>T)
c.3441+16380G>A (n.3441+16380G>A)
c.*481C>T (n.*481C>T)
c.1656C>T (p.Phe552=)
c.276+16380G>A (n.276+16380G>A)
c.*220+6164C>T (n.*220+6164C>T)
c.780C>T (p.Phe260=)
c.807C>T (p.Phe269=)
c.1662C>T (p.Phe554=)
c.1476C>T (p.Phe492=)
c.1395C>T (p.Phe465=)
c.1101C>T (p.Phe367=)
c.1482C>T (p.Phe494=)
2g.48688060G>CCA346744876GTF2A1L,LHCGR,STON1-GTF2A1Lc.1737C>G (p.Phe579Leu)
c.*49C>G (n.*49C>G)
c.3441+16380G>C (n.3441+16380G>C)
c.*481C>G (n.*481C>G)
c.1656C>G (p.Phe552Leu)
c.276+16380G>C (n.276+16380G>C)
c.*220+6164C>G (n.*220+6164C>G)
c.780C>G (p.Phe260Leu)
c.807C>G (p.Phe269Leu)
c.1662C>G (p.Phe554Leu)
c.1476C>G (p.Phe492Leu)
c.1395C>G (p.Phe465Leu)
c.1101C>G (p.Phe367Leu)
c.1482C>G (p.Phe494Leu)
2g.48688060G>TCA346744880GTF2A1L,LHCGR,STON1-GTF2A1Lc.1737C>A (p.Phe579Leu)
c.*49C>A (n.*49C>A)
c.3441+16380G>T (n.3441+16380G>T)
c.*481C>A (n.*481C>A)
c.1656C>A (p.Phe552Leu)
c.276+16380G>T (n.276+16380G>T)
c.*220+6164C>A (n.*220+6164C>A)
c.780C>A (p.Phe260Leu)
c.807C>A (p.Phe269Leu)
c.1662C>A (p.Phe554Leu)
c.1476C>A (p.Phe492Leu)
c.1395C>A (p.Phe465Leu)
c.1101C>A (p.Phe367Leu)
c.1482C>A (p.Phe494Leu)
2g.48688061A>CCA346744883GTF2A1L,LHCGR,STON1-GTF2A1Lc.1736T>G (p.Phe579Cys)
c.*48T>G (n.*48T>G)
c.3441+16381A>C (n.3441+16381A>C)
c.*480T>G (n.*480T>G)
c.1655T>G (p.Phe552Cys)
c.276+16381A>C (n.276+16381A>C)
c.*220+6163T>G (n.*220+6163T>G)
c.779T>G (p.Phe260Cys)
c.806T>G (p.Phe269Cys)
c.1661T>G (p.Phe554Cys)
c.1475T>G (p.Phe492Cys)
c.1394T>G (p.Phe465Cys)
c.1100T>G (p.Phe367Cys)
c.1481T>G (p.Phe494Cys)
2g.48688061A>GCA346744887GTF2A1L,LHCGR,STON1-GTF2A1Lc.1736T>C (p.Phe579Ser)
c.*48T>C (n.*48T>C)
c.3441+16381A>G (n.3441+16381A>G)
c.*480T>C (n.*480T>C)
c.1655T>C (p.Phe552Ser)
c.276+16381A>G (n.276+16381A>G)
c.*220+6163T>C (n.*220+6163T>C)
c.779T>C (p.Phe260Ser)
c.806T>C (p.Phe269Ser)
c.1661T>C (p.Phe554Ser)
c.1475T>C (p.Phe492Ser)
c.1394T>C (p.Phe465Ser)
c.1100T>C (p.Phe367Ser)
c.1481T>C (p.Phe494Ser)
2g.48688061A>TCA346744889GTF2A1L,LHCGR,STON1-GTF2A1Lc.1736T>A (p.Phe579Tyr)
c.*48T>A (n.*48T>A)
c.3441+16381A>T (n.3441+16381A>T)
c.*480T>A (n.*480T>A)
c.1655T>A (p.Phe552Tyr)
c.276+16381A>T (n.276+16381A>T)
c.*220+6163T>A (n.*220+6163T>A)
c.779T>A (p.Phe260Tyr)
c.806T>A (p.Phe269Tyr)
c.1661T>A (p.Phe554Tyr)
c.1475T>A (p.Phe492Tyr)
c.1394T>A (p.Phe465Tyr)
c.1100T>A (p.Phe367Tyr)
c.1481T>A (p.Phe494Tyr)
2g.48688062A>CCA346744892GTF2A1L,LHCGR,STON1-GTF2A1Lc.1735T>G (p.Phe579Val)
c.*47T>G (n.*47T>G)
c.3441+16382A>C (n.3441+16382A>C)
c.*479T>G (n.*479T>G)
c.1654T>G (p.Phe552Val)
c.276+16382A>C (n.276+16382A>C)
c.*220+6162T>G (n.*220+6162T>G)
c.778T>G (p.Phe260Val)
c.805T>G (p.Phe269Val)
c.1660T>G (p.Phe554Val)
c.1474T>G (p.Phe492Val)
c.1393T>G (p.Phe465Val)
c.1099T>G (p.Phe367Val)
c.1480T>G (p.Phe494Val)
 gnomAD v4
2g.48688062A>GCA346744894GTF2A1L,LHCGR,STON1-GTF2A1Lc.1735T>C (p.Phe579Leu)
c.*47T>C (n.*47T>C)
c.3441+16382A>G (n.3441+16382A>G)
c.*479T>C (n.*479T>C)
c.1654T>C (p.Phe552Leu)
c.276+16382A>G (n.276+16382A>G)
c.*220+6162T>C (n.*220+6162T>C)
c.778T>C (p.Phe260Leu)
c.805T>C (p.Phe269Leu)
c.1660T>C (p.Phe554Leu)
c.1474T>C (p.Phe492Leu)
c.1393T>C (p.Phe465Leu)
c.1099T>C (p.Phe367Leu)
c.1480T>C (p.Phe494Leu)
2g.48688062A>TCA346744897GTF2A1L,LHCGR,STON1-GTF2A1Lc.1735T>A (p.Phe579Ile)
c.*47T>A (n.*47T>A)
c.3441+16382A>T (n.3441+16382A>T)
c.*479T>A (n.*479T>A)
c.1654T>A (p.Phe552Ile)
c.276+16382A>T (n.276+16382A>T)
c.*220+6162T>A (n.*220+6162T>A)
c.778T>A (p.Phe260Ile)
c.805T>A (p.Phe269Ile)
c.1660T>A (p.Phe554Ile)
c.1474T>A (p.Phe492Ile)
c.1393T>A (p.Phe465Ile)
c.1099T>A (p.Phe367Ile)
c.1480T>A (p.Phe494Ile)
2g.48688063A>CCA346744901GTF2A1L,LHCGR,STON1-GTF2A1Lc.1734T>G (p.Asp578Glu)
c.*46T>G (n.*46T>G)
c.3441+16383A>C (n.3441+16383A>C)
c.*478T>G (n.*478T>G)
c.1653T>G (p.Asp551Glu)
c.276+16383A>C (n.276+16383A>C)
c.*220+6161T>G (n.*220+6161T>G)
c.777T>G (p.Asp259Glu)
c.804T>G (p.Asp268Glu)
c.1659T>G (p.Asp553Glu)
c.1473T>G (p.Asp491Glu)
c.1392T>G (p.Asp464Glu)
c.1098T>G (p.Asp366Glu)
c.1479T>G (p.Asp493Glu)
2g.48688063A>GCA426124926GTF2A1L,LHCGR,STON1-GTF2A1Lc.1734T>C (p.Asp578=)
c.*46T>C (n.*46T>C)
c.3441+16383A>G (n.3441+16383A>G)
c.*478T>C (n.*478T>C)
c.1653T>C (p.Asp551=)
c.276+16383A>G (n.276+16383A>G)
c.*220+6161T>C (n.*220+6161T>C)
c.777T>C (p.Asp259=)
c.804T>C (p.Asp268=)
c.1659T>C (p.Asp553=)
c.1473T>C (p.Asp491=)
c.1392T>C (p.Asp464=)
c.1098T>C (p.Asp366=)
c.1479T>C (p.Asp493=)
2g.48688063A>TCA346744904GTF2A1L,LHCGR,STON1-GTF2A1Lc.1734T>A (p.Asp578Glu)
c.*46T>A (n.*46T>A)
c.3441+16383A>T (n.3441+16383A>T)
c.*478T>A (n.*478T>A)
c.1653T>A (p.Asp551Glu)
c.276+16383A>T (n.276+16383A>T)
c.*220+6161T>A (n.*220+6161T>A)
c.777T>A (p.Asp259Glu)
c.804T>A (p.Asp268Glu)
c.1659T>A (p.Asp553Glu)
c.1473T>A (p.Asp491Glu)
c.1392T>A (p.Asp464Glu)
c.1098T>A (p.Asp366Glu)
c.1479T>A (p.Asp493Glu)
2g.48688064T>ACA346744908GTF2A1L,LHCGR,STON1-GTF2A1Lc.1733A>T (p.Asp578Val)
c.*45A>T (n.*45A>T)
c.3441+16384T>A (n.3441+16384T>A)
c.*477A>T (n.*477A>T)
c.1652A>T (p.Asp551Val)
c.276+16384T>A (n.276+16384T>A)
c.*220+6160A>T (n.*220+6160A>T)
c.776A>T (p.Asp259Val)
c.803A>T (p.Asp268Val)
c.1658A>T (p.Asp553Val)
c.1472A>T (p.Asp491Val)
c.1391A>T (p.Asp464Val)
c.1097A>T (p.Asp366Val)
c.1478A>T (p.Asp493Val)
2g.48688064T>CCA123916GTF2A1L,LHCGR,STON1-GTF2A1Lc.1733A>G (p.Asp578Gly)
c.*45A>G (n.*45A>G)
c.3441+16384T>C (n.3441+16384T>C)
c.*477A>G (n.*477A>G)
c.1652A>G (p.Asp551Gly)
c.276+16384T>C (n.276+16384T>C)
c.*220+6160A>G (n.*220+6160A>G)
c.776A>G (p.Asp259Gly)
c.803A>G (p.Asp268Gly)
c.1658A>G (p.Asp553Gly)
c.1472A>G (p.Asp491Gly)
c.1391A>G (p.Asp464Gly)
c.1097A>G (p.Asp366Gly)
c.1478A>G (p.Asp493Gly)
 ClinVar dbSNP
2g.48688064T>GCA346744915GTF2A1L,LHCGR,STON1-GTF2A1Lc.1733A>C (p.Asp578Ala)
c.*45A>C (n.*45A>C)
c.3441+16384T>G (n.3441+16384T>G)
c.*477A>C (n.*477A>C)
c.1652A>C (p.Asp551Ala)
c.276+16384T>G (n.276+16384T>G)
c.*220+6160A>C (n.*220+6160A>C)
c.776A>C (p.Asp259Ala)
c.803A>C (p.Asp268Ala)
c.1658A>C (p.Asp553Ala)
c.1472A>C (p.Asp491Ala)
c.1391A>C (p.Asp464Ala)
c.1097A>C (p.Asp366Ala)
c.1478A>C (p.Asp493Ala)
 ClinVar dbSNP
2g.48688064T=CA1248600970GTF2A1L,LHCGR,STON1-GTF2A1Lc.1733A= (p.Asp578=)
c.*45A= (n.*45A=)
c.3441+16384T= (n.3441+16384T=)
c.*477A= (n.*477A=)
c.1652A= (p.Asp551=)
c.276+16384T= (n.276+16384T=)
c.*220+6160A= (n.*220+6160A=)
c.776A= (p.Asp259=)
c.803A= (p.Asp268=)
c.1658A= (p.Asp553=)
c.1472A= (p.Asp491=)
c.1391A= (p.Asp464=)
c.1097A= (p.Asp366=)
c.1478A= (p.Asp493=)
2g.48688065C>ACA214133GTF2A1L,LHCGR,STON1-GTF2A1Lc.1732G>T (p.Asp578Tyr)
c.*44G>T (n.*44G>T)
c.3441+16385C>A (n.3441+16385C>A)
c.*476G>T (n.*476G>T)
c.1651G>T (p.Asp551Tyr)
c.276+16385C>A (n.276+16385C>A)
c.*220+6159G>T (n.*220+6159G>T)
c.775G>T (p.Asp259Tyr)
c.802G>T (p.Asp268Tyr)
c.1657G>T (p.Asp553Tyr)
c.1471G>T (p.Asp491Tyr)
c.1390G>T (p.Asp464Tyr)
c.1096G>T (p.Asp366Tyr)
c.1477G>T (p.Asp493Tyr)
 ClinVar dbSNP
2g.48688065C=CA1248600971GTF2A1L,LHCGR,STON1-GTF2A1Lc.1732G= (p.Asp578=)
c.*44G= (n.*44G=)
c.3441+16385C= (n.3441+16385C=)
c.*476G= (n.*476G=)
c.1651G= (p.Asp551=)
c.276+16385C= (n.276+16385C=)
c.*220+6159G= (n.*220+6159G=)
c.775G= (p.Asp259=)
c.802G= (p.Asp268=)
c.1657G= (p.Asp553=)
c.1471G= (p.Asp491=)
c.1390G= (p.Asp464=)
c.1096G= (p.Asp366=)
c.1477G= (p.Asp493=)
2g.48688065C>GCA123930GTF2A1L,LHCGR,STON1-GTF2A1Lc.1732G>C (p.Asp578His)
c.*44G>C (n.*44G>C)
c.3441+16385C>G (n.3441+16385C>G)
c.*476G>C (n.*476G>C)
c.1651G>C (p.Asp551His)
c.276+16385C>G (n.276+16385C>G)
c.*220+6159G>C (n.*220+6159G>C)
c.775G>C (p.Asp259His)
c.802G>C (p.Asp268His)
c.1657G>C (p.Asp553His)
c.1471G>C (p.Asp491His)
c.1390G>C (p.Asp464His)
c.1096G>C (p.Asp366His)
c.1477G>C (p.Asp493His)
 ClinVar dbSNP
2g.48688065C>TCA1652997GTF2A1L,LHCGR,STON1-GTF2A1Lc.1732G>A (p.Asp578Asn)
c.*44G>A (n.*44G>A)
c.3441+16385C>T (n.3441+16385C>T)
c.*476G>A (n.*476G>A)
c.1651G>A (p.Asp551Asn)
c.276+16385C>T (n.276+16385C>T)
c.*220+6159G>A (n.*220+6159G>A)
c.775G>A (p.Asp259Asn)
c.802G>A (p.Asp268Asn)
c.1657G>A (p.Asp553Asn)
c.1471G>A (p.Asp491Asn)
c.1390G>A (p.Asp464Asn)
c.1096G>A (p.Asp366Asn)
c.1477G>A (p.Asp493Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688066G>ACA1652998GTF2A1L,LHCGR,STON1-GTF2A1Lc.1731C>T (p.Thr577=)
c.*43C>T (n.*43C>T)
c.3441+16386G>A (n.3441+16386G>A)
c.*475C>T (n.*475C>T)
c.1650C>T (p.Thr550=)
c.276+16386G>A (n.276+16386G>A)
c.*220+6158C>T (n.*220+6158C>T)
c.774C>T (p.Thr258=)
c.801C>T (p.Thr267=)
c.1656C>T (p.Thr552=)
c.1470C>T (p.Thr490=)
c.1389C>T (p.Thr463=)
c.1095C>T (p.Thr365=)
c.1476C>T (p.Thr492=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688066G>CCA426124927GTF2A1L,LHCGR,STON1-GTF2A1Lc.1731C>G (p.Thr577=)
c.*43C>G (n.*43C>G)
c.3441+16386G>C (n.3441+16386G>C)
c.*475C>G (n.*475C>G)
c.1650C>G (p.Thr550=)
c.276+16386G>C (n.276+16386G>C)
c.*220+6158C>G (n.*220+6158C>G)
c.774C>G (p.Thr258=)
c.801C>G (p.Thr267=)
c.1656C>G (p.Thr552=)
c.1470C>G (p.Thr490=)
c.1389C>G (p.Thr463=)
c.1095C>G (p.Thr365=)
c.1476C>G (p.Thr492=)
2g.48688066G=CA1248600972GTF2A1L,LHCGR,STON1-GTF2A1Lc.1731C= (p.Thr577=)
c.*43C= (n.*43C=)
c.3441+16386G= (n.3441+16386G=)
c.*475C= (n.*475C=)
c.1650C= (p.Thr550=)
c.276+16386G= (n.276+16386G=)
c.*220+6158C= (n.*220+6158C=)
c.774C= (p.Thr258=)
c.801C= (p.Thr267=)
c.1656C= (p.Thr552=)
c.1470C= (p.Thr490=)
c.1389C= (p.Thr463=)
c.1095C= (p.Thr365=)
c.1476C= (p.Thr492=)
2g.48688066G>TCA426124928GTF2A1L,LHCGR,STON1-GTF2A1Lc.1731C>A (p.Thr577=)
c.*43C>A (n.*43C>A)
c.3441+16386G>T (n.3441+16386G>T)
c.*475C>A (n.*475C>A)
c.1650C>A (p.Thr550=)
c.276+16386G>T (n.276+16386G>T)
c.*220+6158C>A (n.*220+6158C>A)
c.774C>A (p.Thr258=)
c.801C>A (p.Thr267=)
c.1656C>A (p.Thr552=)
c.1470C>A (p.Thr490=)
c.1389C>A (p.Thr463=)
c.1095C>A (p.Thr365=)
c.1476C>A (p.Thr492=)
2g.48688067G>ACA123919GTF2A1L,LHCGR,STON1-GTF2A1Lc.1730C>T (p.Thr577Ile)
c.*42C>T (n.*42C>T)
c.3441+16387G>A (n.3441+16387G>A)
c.*474C>T (n.*474C>T)
c.1649C>T (p.Thr550Ile)
c.276+16387G>A (n.276+16387G>A)
c.*220+6157C>T (n.*220+6157C>T)
c.773C>T (p.Thr258Ile)
c.800C>T (p.Thr267Ile)
c.1655C>T (p.Thr552Ile)
c.1469C>T (p.Thr490Ile)
c.1388C>T (p.Thr463Ile)
c.1094C>T (p.Thr365Ile)
c.1475C>T (p.Thr492Ile)
 ClinVar dbSNP COSMIC
2g.48688067G>CCA346744921GTF2A1L,LHCGR,STON1-GTF2A1Lc.1730C>G (p.Thr577Ser)
c.*42C>G (n.*42C>G)
c.3441+16387G>C (n.3441+16387G>C)
c.*474C>G (n.*474C>G)
c.1649C>G (p.Thr550Ser)
c.276+16387G>C (n.276+16387G>C)
c.*220+6157C>G (n.*220+6157C>G)
c.773C>G (p.Thr258Ser)
c.800C>G (p.Thr267Ser)
c.1655C>G (p.Thr552Ser)
c.1469C>G (p.Thr490Ser)
c.1388C>G (p.Thr463Ser)
c.1094C>G (p.Thr365Ser)
c.1475C>G (p.Thr492Ser)
2g.48688067G=CA1248600973GTF2A1L,LHCGR,STON1-GTF2A1Lc.1730C= (p.Thr577=)
c.*42C= (n.*42C=)
c.3441+16387G= (n.3441+16387G=)
c.*474C= (n.*474C=)
c.1649C= (p.Thr550=)
c.276+16387G= (n.276+16387G=)
c.*220+6157C= (n.*220+6157C=)
c.773C= (p.Thr258=)
c.800C= (p.Thr267=)
c.1655C= (p.Thr552=)
c.1469C= (p.Thr490=)
c.1388C= (p.Thr463=)
c.1094C= (p.Thr365=)
c.1475C= (p.Thr492=)
2g.48688067G>TCA346744923GTF2A1L,LHCGR,STON1-GTF2A1Lc.1730C>A (p.Thr577Asn)
c.*42C>A (n.*42C>A)
c.3441+16387G>T (n.3441+16387G>T)
c.*474C>A (n.*474C>A)
c.1649C>A (p.Thr550Asn)
c.276+16387G>T (n.276+16387G>T)
c.*220+6157C>A (n.*220+6157C>A)
c.773C>A (p.Thr258Asn)
c.800C>A (p.Thr267Asn)
c.1655C>A (p.Thr552Asn)
c.1469C>A (p.Thr490Asn)
c.1388C>A (p.Thr463Asn)
c.1094C>A (p.Thr365Asn)
c.1475C>A (p.Thr492Asn)
2g.48688068T>ACA346744927GTF2A1L,LHCGR,STON1-GTF2A1Lc.1729A>T (p.Thr577Ser)
c.*41A>T (n.*41A>T)
c.3441+16388T>A (n.3441+16388T>A)
c.*473A>T (n.*473A>T)
c.1648A>T (p.Thr550Ser)
c.276+16388T>A (n.276+16388T>A)
c.*220+6156A>T (n.*220+6156A>T)
c.772A>T (p.Thr258Ser)
c.799A>T (p.Thr267Ser)
c.1654A>T (p.Thr552Ser)
c.1468A>T (p.Thr490Ser)
c.1387A>T (p.Thr463Ser)
c.1093A>T (p.Thr365Ser)
c.1474A>T (p.Thr492Ser)
 dbSNP
2g.48688068T>CCA346744935GTF2A1L,LHCGR,STON1-GTF2A1Lc.1729A>G (p.Thr577Ala)
c.*41A>G (n.*41A>G)
c.3441+16388T>C (n.3441+16388T>C)
c.*473A>G (n.*473A>G)
c.1648A>G (p.Thr550Ala)
c.276+16388T>C (n.276+16388T>C)
c.*220+6156A>G (n.*220+6156A>G)
c.772A>G (p.Thr258Ala)
c.799A>G (p.Thr267Ala)
c.1654A>G (p.Thr552Ala)
c.1468A>G (p.Thr490Ala)
c.1387A>G (p.Thr463Ala)
c.1093A>G (p.Thr365Ala)
c.1474A>G (p.Thr492Ala)
2g.48688068T>GCA346744939GTF2A1L,LHCGR,STON1-GTF2A1Lc.1729A>C (p.Thr577Pro)
c.*41A>C (n.*41A>C)
c.3441+16388T>G (n.3441+16388T>G)
c.*473A>C (n.*473A>C)
c.1648A>C (p.Thr550Pro)
c.276+16388T>G (n.276+16388T>G)
c.*220+6156A>C (n.*220+6156A>C)
c.772A>C (p.Thr258Pro)
c.799A>C (p.Thr267Pro)
c.1654A>C (p.Thr552Pro)
c.1468A>C (p.Thr490Pro)
c.1387A>C (p.Thr463Pro)
c.1093A>C (p.Thr365Pro)
c.1474A>C (p.Thr492Pro)
2g.48688068T=CA1248600974GTF2A1L,LHCGR,STON1-GTF2A1Lc.1729A= (p.Thr577=)
c.*41A= (n.*41A=)
c.3441+16388T= (n.3441+16388T=)
c.*473A= (n.*473A=)
c.1648A= (p.Thr550=)
c.276+16388T= (n.276+16388T=)
c.*220+6156A= (n.*220+6156A=)
c.772A= (p.Thr258=)
c.799A= (p.Thr267=)
c.1654A= (p.Thr552=)
c.1468A= (p.Thr490=)
c.1387A= (p.Thr463=)
c.1093A= (p.Thr365=)
c.1474A= (p.Thr492=)
2g.48688069G>ACA426124929GTF2A1L,LHCGR,STON1-GTF2A1Lc.1728C>T (p.Phe576=)
c.*40C>T (n.*40C>T)
c.3441+16389G>A (n.3441+16389G>A)
c.*472C>T (n.*472C>T)
c.1647C>T (p.Phe549=)
c.276+16389G>A (n.276+16389G>A)
c.*220+6155C>T (n.*220+6155C>T)
c.771C>T (p.Phe257=)
c.798C>T (p.Phe266=)
c.1653C>T (p.Phe551=)
c.1467C>T (p.Phe489=)
c.1386C>T (p.Phe462=)
c.1092C>T (p.Phe364=)
c.1473C>T (p.Phe491=)
2g.48688069G>CCA346744943GTF2A1L,LHCGR,STON1-GTF2A1Lc.1728C>G (p.Phe576Leu)
c.*40C>G (n.*40C>G)
c.3441+16389G>C (n.3441+16389G>C)
c.*472C>G (n.*472C>G)
c.1647C>G (p.Phe549Leu)
c.276+16389G>C (n.276+16389G>C)
c.*220+6155C>G (n.*220+6155C>G)
c.771C>G (p.Phe257Leu)
c.798C>G (p.Phe266Leu)
c.1653C>G (p.Phe551Leu)
c.1467C>G (p.Phe489Leu)
c.1386C>G (p.Phe462Leu)
c.1092C>G (p.Phe364Leu)
c.1473C>G (p.Phe491Leu)
2g.48688069G>TCA346744944GTF2A1L,LHCGR,STON1-GTF2A1Lc.1728C>A (p.Phe576Leu)
c.*40C>A (n.*40C>A)
c.3441+16389G>T (n.3441+16389G>T)
c.*472C>A (n.*472C>A)
c.1647C>A (p.Phe549Leu)
c.276+16389G>T (n.276+16389G>T)
c.*220+6155C>A (n.*220+6155C>A)
c.771C>A (p.Phe257Leu)
c.798C>A (p.Phe266Leu)
c.1653C>A (p.Phe551Leu)
c.1467C>A (p.Phe489Leu)
c.1386C>A (p.Phe462Leu)
c.1092C>A (p.Phe364Leu)
c.1473C>A (p.Phe491Leu)
2g.48688070A>CCA346744947GTF2A1L,LHCGR,STON1-GTF2A1Lc.1727T>G (p.Phe576Cys)
c.*39T>G (n.*39T>G)
c.3441+16390A>C (n.3441+16390A>C)
c.*471T>G (n.*471T>G)
c.1646T>G (p.Phe549Cys)
c.276+16390A>C (n.276+16390A>C)
c.*220+6154T>G (n.*220+6154T>G)
c.770T>G (p.Phe257Cys)
c.797T>G (p.Phe266Cys)
c.1652T>G (p.Phe551Cys)
c.1466T>G (p.Phe489Cys)
c.1385T>G (p.Phe462Cys)
c.1091T>G (p.Phe364Cys)
c.1472T>G (p.Phe491Cys)
2g.48688070A>GCA346744952GTF2A1L,LHCGR,STON1-GTF2A1Lc.1727T>C (p.Phe576Ser)
c.*39T>C (n.*39T>C)
c.3441+16390A>G (n.3441+16390A>G)
c.*471T>C (n.*471T>C)
c.1646T>C (p.Phe549Ser)
c.276+16390A>G (n.276+16390A>G)
c.*220+6154T>C (n.*220+6154T>C)
c.770T>C (p.Phe257Ser)
c.797T>C (p.Phe266Ser)
c.1652T>C (p.Phe551Ser)
c.1466T>C (p.Phe489Ser)
c.1385T>C (p.Phe462Ser)
c.1091T>C (p.Phe364Ser)
c.1472T>C (p.Phe491Ser)
2g.48688070A>TCA346744954GTF2A1L,LHCGR,STON1-GTF2A1Lc.1727T>A (p.Phe576Tyr)
c.*39T>A (n.*39T>A)
c.3441+16390A>T (n.3441+16390A>T)
c.*471T>A (n.*471T>A)
c.1646T>A (p.Phe549Tyr)
c.276+16390A>T (n.276+16390A>T)
c.*220+6154T>A (n.*220+6154T>A)
c.770T>A (p.Phe257Tyr)
c.797T>A (p.Phe266Tyr)
c.1652T>A (p.Phe551Tyr)
c.1466T>A (p.Phe489Tyr)
c.1385T>A (p.Phe462Tyr)
c.1091T>A (p.Phe364Tyr)
c.1472T>A (p.Phe491Tyr)

Number of alleles fetched