Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)

Number of alleles fetched