Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48688127T>ACA346745387GTF2A1L,LHCGR,STON1-GTF2A1Lc.1670A>T (p.Glu557Val)
c.960A>T (p.Arg320Ser)
c.3441+16447T>A (n.3441+16447T>A)
c.*414A>T (n.*414A>T)
c.1589A>T (p.Glu530Val)
c.276+16447T>A (n.276+16447T>A)
c.*220+6097A>T (n.*220+6097A>T)
c.713A>T (p.Glu238Val)
c.740A>T (p.Glu247Val)
c.1595A>T (p.Glu532Val)
c.1409A>T (p.Glu470Val)
c.1328A>T (p.Glu443Val)
c.1034A>T (p.Glu345Val)
c.1415A>T (p.Glu472Val)
2g.48688127T>CCA346745385GTF2A1L,LHCGR,STON1-GTF2A1Lc.1670A>G (p.Glu557Gly)
c.960A>G (p.Arg320=)
c.3441+16447T>C (n.3441+16447T>C)
c.*414A>G (n.*414A>G)
c.1589A>G (p.Glu530Gly)
c.276+16447T>C (n.276+16447T>C)
c.*220+6097A>G (n.*220+6097A>G)
c.713A>G (p.Glu238Gly)
c.740A>G (p.Glu247Gly)
c.1595A>G (p.Glu532Gly)
c.1409A>G (p.Glu470Gly)
c.1328A>G (p.Glu443Gly)
c.1034A>G (p.Glu345Gly)
c.1415A>G (p.Glu472Gly)
2g.48688127T>GCA346745390GTF2A1L,LHCGR,STON1-GTF2A1Lc.1670A>C (p.Glu557Ala)
c.960A>C (p.Arg320Ser)
c.3441+16447T>G (n.3441+16447T>G)
c.*414A>C (n.*414A>C)
c.1589A>C (p.Glu530Ala)
c.276+16447T>G (n.276+16447T>G)
c.*220+6097A>C (n.*220+6097A>C)
c.713A>C (p.Glu238Ala)
c.740A>C (p.Glu247Ala)
c.1595A>C (p.Glu532Ala)
c.1409A>C (p.Glu470Ala)
c.1328A>C (p.Glu443Ala)
c.1034A>C (p.Glu345Ala)
c.1415A>C (p.Glu472Ala)
2g.48688128C>ACA346745391GTF2A1L,LHCGR,STON1-GTF2A1Lc.1669G>T (p.Glu557Ter)
c.959G>T (p.Arg320Ile)
c.3441+16448C>A (n.3441+16448C>A)
c.*413G>T (n.*413G>T)
c.1588G>T (p.Glu530Ter)
c.276+16448C>A (n.276+16448C>A)
c.*220+6096G>T (n.*220+6096G>T)
c.712G>T (p.Glu238Ter)
c.739G>T (p.Glu247Ter)
c.1594G>T (p.Glu532Ter)
c.1408G>T (p.Glu470Ter)
c.1327G>T (p.Glu443Ter)
c.1033G>T (p.Glu345Ter)
c.1414G>T (p.Glu472Ter)
 COSMIC
2g.48688128C=CA1248601001GTF2A1L,LHCGR,STON1-GTF2A1Lc.1669G= (p.Glu557=)
c.959G= (p.Arg320=)
c.3441+16448C= (n.3441+16448C=)
c.*413G= (n.*413G=)
c.1588G= (p.Glu530=)
c.276+16448C= (n.276+16448C=)
c.*220+6096G= (n.*220+6096G=)
c.712G= (p.Glu238=)
c.739G= (p.Glu247=)
c.1594G= (p.Glu532=)
c.1408G= (p.Glu470=)
c.1327G= (p.Glu443=)
c.1033G= (p.Glu345=)
c.1414G= (p.Glu472=)
2g.48688128C>GCA346745396GTF2A1L,LHCGR,STON1-GTF2A1Lc.1669G>C (p.Glu557Gln)
c.959G>C (p.Arg320Thr)
c.3441+16448C>G (n.3441+16448C>G)
c.*413G>C (n.*413G>C)
c.1588G>C (p.Glu530Gln)
c.276+16448C>G (n.276+16448C>G)
c.*220+6096G>C (n.*220+6096G>C)
c.712G>C (p.Glu238Gln)
c.739G>C (p.Glu247Gln)
c.1594G>C (p.Glu532Gln)
c.1408G>C (p.Glu470Gln)
c.1327G>C (p.Glu443Gln)
c.1033G>C (p.Glu345Gln)
c.1414G>C (p.Glu472Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.48688128C>TCA1653004GTF2A1L,LHCGR,STON1-GTF2A1Lc.1669G>A (p.Glu557Lys)
c.959G>A (p.Arg320Lys)
c.3441+16448C>T (n.3441+16448C>T)
c.*413G>A (n.*413G>A)
c.1588G>A (p.Glu530Lys)
c.276+16448C>T (n.276+16448C>T)
c.*220+6096G>A (n.*220+6096G>A)
c.712G>A (p.Glu238Lys)
c.739G>A (p.Glu247Lys)
c.1594G>A (p.Glu532Lys)
c.1408G>A (p.Glu470Lys)
c.1327G>A (p.Glu443Lys)
c.1033G>A (p.Glu345Lys)
c.1414G>A (p.Glu472Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688129T>ACA346745406GTF2A1L,LHCGR,STON1-GTF2A1Lc.1668A>T (p.Pro556=)
c.958A>T (p.Arg320Ter)
c.3441+16449T>A (n.3441+16449T>A)
c.*412A>T (n.*412A>T)
c.1587A>T (p.Pro529=)
c.276+16449T>A (n.276+16449T>A)
c.*220+6095A>T (n.*220+6095A>T)
c.711A>T (p.Pro237=)
c.738A>T (p.Pro246=)
c.1593A>T (p.Pro531=)
c.1407A>T (p.Pro469=)
c.1326A>T (p.Pro442=)
c.1032A>T (p.Pro344=)
c.1413A>T (p.Pro471=)
2g.48688129T>CCA346745407GTF2A1L,LHCGR,STON1-GTF2A1Lc.1668A>G (p.Pro556=)
c.958A>G (p.Arg320Gly)
c.3441+16449T>C (n.3441+16449T>C)
c.*412A>G (n.*412A>G)
c.1587A>G (p.Pro529=)
c.276+16449T>C (n.276+16449T>C)
c.*220+6095A>G (n.*220+6095A>G)
c.711A>G (p.Pro237=)
c.738A>G (p.Pro246=)
c.1593A>G (p.Pro531=)
c.1407A>G (p.Pro469=)
c.1326A>G (p.Pro442=)
c.1032A>G (p.Pro344=)
c.1413A>G (p.Pro471=)
2g.48688129T>GCA426125017GTF2A1L,LHCGR,STON1-GTF2A1Lc.1668A>C (p.Pro556=)
c.958A>C (p.Arg320=)
c.3441+16449T>G (n.3441+16449T>G)
c.*412A>C (n.*412A>C)
c.1587A>C (p.Pro529=)
c.276+16449T>G (n.276+16449T>G)
c.*220+6095A>C (n.*220+6095A>C)
c.711A>C (p.Pro237=)
c.738A>C (p.Pro246=)
c.1593A>C (p.Pro531=)
c.1407A>C (p.Pro469=)
c.1326A>C (p.Pro442=)
c.1032A>C (p.Pro344=)
c.1413A>C (p.Pro471=)
2g.48688130G>ACA346745411GTF2A1L,LHCGR,STON1-GTF2A1Lc.1667C>T (p.Pro556Leu)
c.957C>T (p.Pro319=)
c.3441+16450G>A (n.3441+16450G>A)
c.*411C>T (n.*411C>T)
c.1586C>T (p.Pro529Leu)
c.276+16450G>A (n.276+16450G>A)
c.*220+6094C>T (n.*220+6094C>T)
c.710C>T (p.Pro237Leu)
c.737C>T (p.Pro246Leu)
c.1592C>T (p.Pro531Leu)
c.1406C>T (p.Pro469Leu)
c.1325C>T (p.Pro442Leu)
c.1031C>T (p.Pro344Leu)
c.1412C>T (p.Pro471Leu)
 dbSNP
2g.48688130G>CCA346745412GTF2A1L,LHCGR,STON1-GTF2A1Lc.1667C>G (p.Pro556Arg)
c.957C>G (p.Pro319=)
c.3441+16450G>C (n.3441+16450G>C)
c.*411C>G (n.*411C>G)
c.1586C>G (p.Pro529Arg)
c.276+16450G>C (n.276+16450G>C)
c.*220+6094C>G (n.*220+6094C>G)
c.710C>G (p.Pro237Arg)
c.737C>G (p.Pro246Arg)
c.1592C>G (p.Pro531Arg)
c.1406C>G (p.Pro469Arg)
c.1325C>G (p.Pro442Arg)
c.1031C>G (p.Pro344Arg)
c.1412C>G (p.Pro471Arg)
 dbSNP
2g.48688130G=CA1248601002GTF2A1L,LHCGR,STON1-GTF2A1Lc.1667C= (p.Pro556=)
c.957C= (p.Pro319=)
c.3441+16450G= (n.3441+16450G=)
c.*411C= (n.*411C=)
c.1586C= (p.Pro529=)
c.276+16450G= (n.276+16450G=)
c.*220+6094C= (n.*220+6094C=)
c.710C= (p.Pro237=)
c.737C= (p.Pro246=)
c.1592C= (p.Pro531=)
c.1406C= (p.Pro469=)
c.1325C= (p.Pro442=)
c.1031C= (p.Pro344=)
c.1412C= (p.Pro471=)
2g.48688130G>TCA346745414GTF2A1L,LHCGR,STON1-GTF2A1Lc.1667C>A (p.Pro556Gln)
c.957C>A (p.Pro319=)
c.3441+16450G>T (n.3441+16450G>T)
c.*411C>A (n.*411C>A)
c.1586C>A (p.Pro529Gln)
c.276+16450G>T (n.276+16450G>T)
c.*220+6094C>A (n.*220+6094C>A)
c.710C>A (p.Pro237Gln)
c.737C>A (p.Pro246Gln)
c.1592C>A (p.Pro531Gln)
c.1406C>A (p.Pro469Gln)
c.1325C>A (p.Pro442Gln)
c.1031C>A (p.Pro344Gln)
c.1412C>A (p.Pro471Gln)
 dbSNP
2g.48688131G>ACA346745418GTF2A1L,LHCGR,STON1-GTF2A1Lc.1666C>T (p.Pro556Ser)
c.956C>T (p.Pro319Leu)
c.3441+16451G>A (n.3441+16451G>A)
c.*410C>T (n.*410C>T)
c.1585C>T (p.Pro529Ser)
c.276+16451G>A (n.276+16451G>A)
c.*220+6093C>T (n.*220+6093C>T)
c.709C>T (p.Pro237Ser)
c.736C>T (p.Pro246Ser)
c.1591C>T (p.Pro531Ser)
c.1405C>T (p.Pro469Ser)
c.1324C>T (p.Pro442Ser)
c.1030C>T (p.Pro344Ser)
c.1411C>T (p.Pro471Ser)
2g.48688131G>CCA346745419GTF2A1L,LHCGR,STON1-GTF2A1Lc.1666C>G (p.Pro556Ala)
c.956C>G (p.Pro319Arg)
c.3441+16451G>C (n.3441+16451G>C)
c.*410C>G (n.*410C>G)
c.1585C>G (p.Pro529Ala)
c.276+16451G>C (n.276+16451G>C)
c.*220+6093C>G (n.*220+6093C>G)
c.709C>G (p.Pro237Ala)
c.736C>G (p.Pro246Ala)
c.1591C>G (p.Pro531Ala)
c.1405C>G (p.Pro469Ala)
c.1324C>G (p.Pro442Ala)
c.1030C>G (p.Pro344Ala)
c.1411C>G (p.Pro471Ala)
2g.48688131G>TCA346745421GTF2A1L,LHCGR,STON1-GTF2A1Lc.1666C>A (p.Pro556Thr)
c.956C>A (p.Pro319His)
c.3441+16451G>T (n.3441+16451G>T)
c.*410C>A (n.*410C>A)
c.1585C>A (p.Pro529Thr)
c.276+16451G>T (n.276+16451G>T)
c.*220+6093C>A (n.*220+6093C>A)
c.709C>A (p.Pro237Thr)
c.736C>A (p.Pro246Thr)
c.1591C>A (p.Pro531Thr)
c.1405C>A (p.Pro469Thr)
c.1324C>A (p.Pro442Thr)
c.1030C>A (p.Pro344Thr)
c.1411C>A (p.Pro471Thr)
2g.48688132G>ACA346745434GTF2A1L,LHCGR,STON1-GTF2A1Lc.1665C>T (p.Asn555=)
c.955C>T (p.Pro319Ser)
c.3441+16452G>A (n.3441+16452G>A)
c.*409C>T (n.*409C>T)
c.1584C>T (p.Asn528=)
c.276+16452G>A (n.276+16452G>A)
c.*220+6092C>T (n.*220+6092C>T)
c.708C>T (p.Asn236=)
c.735C>T (p.Asn245=)
c.1590C>T (p.Asn530=)
c.1404C>T (p.Asn468=)
c.1323C>T (p.Asn441=)
c.1029C>T (p.Asn343=)
c.1410C>T (p.Asn470=)
2g.48688132G>CCA346745432GTF2A1L,LHCGR,STON1-GTF2A1Lc.1665C>G (p.Asn555Lys)
c.955C>G (p.Pro319Ala)
c.3441+16452G>C (n.3441+16452G>C)
c.*409C>G (n.*409C>G)
c.1584C>G (p.Asn528Lys)
c.276+16452G>C (n.276+16452G>C)
c.*220+6092C>G (n.*220+6092C>G)
c.708C>G (p.Asn236Lys)
c.735C>G (p.Asn245Lys)
c.1590C>G (p.Asn530Lys)
c.1404C>G (p.Asn468Lys)
c.1323C>G (p.Asn441Lys)
c.1029C>G (p.Asn343Lys)
c.1410C>G (p.Asn470Lys)
2g.48688132G>TCA346745426GTF2A1L,LHCGR,STON1-GTF2A1Lc.1665C>A (p.Asn555Lys)
c.955C>A (p.Pro319Thr)
c.3441+16452G>T (n.3441+16452G>T)
c.*409C>A (n.*409C>A)
c.1584C>A (p.Asn528Lys)
c.276+16452G>T (n.276+16452G>T)
c.*220+6092C>A (n.*220+6092C>A)
c.708C>A (p.Asn236Lys)
c.735C>A (p.Asn245Lys)
c.1590C>A (p.Asn530Lys)
c.1404C>A (p.Asn468Lys)
c.1323C>A (p.Asn441Lys)
c.1029C>A (p.Asn343Lys)
c.1410C>A (p.Asn470Lys)
2g.48688133T>ACA346745437GTF2A1L,LHCGR,STON1-GTF2A1Lc.1664A>T (p.Asn555Ile)
c.954A>T (p.Lys318Asn)
c.3441+16453T>A (n.3441+16453T>A)
c.*408A>T (n.*408A>T)
c.1583A>T (p.Asn528Ile)
c.276+16453T>A (n.276+16453T>A)
c.*220+6091A>T (n.*220+6091A>T)
c.707A>T (p.Asn236Ile)
c.734A>T (p.Asn245Ile)
c.1589A>T (p.Asn530Ile)
c.1403A>T (p.Asn468Ile)
c.1322A>T (p.Asn441Ile)
c.1028A>T (p.Asn343Ile)
c.1409A>T (p.Asn470Ile)
2g.48688133T>CCA346745441GTF2A1L,LHCGR,STON1-GTF2A1Lc.1664A>G (p.Asn555Ser)
c.954A>G (p.Lys318=)
c.3441+16453T>C (n.3441+16453T>C)
c.*408A>G (n.*408A>G)
c.1583A>G (p.Asn528Ser)
c.276+16453T>C (n.276+16453T>C)
c.*220+6091A>G (n.*220+6091A>G)
c.707A>G (p.Asn236Ser)
c.734A>G (p.Asn245Ser)
c.1589A>G (p.Asn530Ser)
c.1403A>G (p.Asn468Ser)
c.1322A>G (p.Asn441Ser)
c.1028A>G (p.Asn343Ser)
c.1409A>G (p.Asn470Ser)
2g.48688133T>GCA346745444GTF2A1L,LHCGR,STON1-GTF2A1Lc.1664A>C (p.Asn555Thr)
c.954A>C (p.Lys318Asn)
c.3441+16453T>G (n.3441+16453T>G)
c.*408A>C (n.*408A>C)
c.1583A>C (p.Asn528Thr)
c.276+16453T>G (n.276+16453T>G)
c.*220+6091A>C (n.*220+6091A>C)
c.707A>C (p.Asn236Thr)
c.734A>C (p.Asn245Thr)
c.1589A>C (p.Asn530Thr)
c.1403A>C (p.Asn468Thr)
c.1322A>C (p.Asn441Thr)
c.1028A>C (p.Asn343Thr)
c.1409A>C (p.Asn470Thr)
2g.48688134T>ACA346745446GTF2A1L,LHCGR,STON1-GTF2A1Lc.1663A>T (p.Asn555Tyr)
c.953A>T (p.Lys318Ile)
c.3441+16454T>A (n.3441+16454T>A)
c.*407A>T (n.*407A>T)
c.1582A>T (p.Asn528Tyr)
c.276+16454T>A (n.276+16454T>A)
c.*220+6090A>T (n.*220+6090A>T)
c.706A>T (p.Asn236Tyr)
c.733A>T (p.Asn245Tyr)
c.1588A>T (p.Asn530Tyr)
c.1402A>T (p.Asn468Tyr)
c.1321A>T (p.Asn441Tyr)
c.1027A>T (p.Asn343Tyr)
c.1408A>T (p.Asn470Tyr)
2g.48688134T>CCA346745449GTF2A1L,LHCGR,STON1-GTF2A1Lc.1663A>G (p.Asn555Asp)
c.953A>G (p.Lys318Arg)
c.3441+16454T>C (n.3441+16454T>C)
c.*407A>G (n.*407A>G)
c.1582A>G (p.Asn528Asp)
c.276+16454T>C (n.276+16454T>C)
c.*220+6090A>G (n.*220+6090A>G)
c.706A>G (p.Asn236Asp)
c.733A>G (p.Asn245Asp)
c.1588A>G (p.Asn530Asp)
c.1402A>G (p.Asn468Asp)
c.1321A>G (p.Asn441Asp)
c.1027A>G (p.Asn343Asp)
c.1408A>G (p.Asn470Asp)
2g.48688134T>GCA346745453GTF2A1L,LHCGR,STON1-GTF2A1Lc.1663A>C (p.Asn555His)
c.953A>C (p.Lys318Thr)
c.3441+16454T>G (n.3441+16454T>G)
c.*407A>C (n.*407A>C)
c.1582A>C (p.Asn528His)
c.276+16454T>G (n.276+16454T>G)
c.*220+6090A>C (n.*220+6090A>C)
c.706A>C (p.Asn236His)
c.733A>C (p.Asn245His)
c.1588A>C (p.Asn530His)
c.1402A>C (p.Asn468His)
c.1321A>C (p.Asn441His)
c.1027A>C (p.Asn343His)
c.1408A>C (p.Asn470His)
2g.48688135T>ACA346745457GTF2A1L,LHCGR,STON1-GTF2A1Lc.1662A>T (p.Arg554=)
c.952A>T (p.Lys318Ter)
c.3441+16455T>A (n.3441+16455T>A)
c.*406A>T (n.*406A>T)
c.1581A>T (p.Arg527=)
c.276+16455T>A (n.276+16455T>A)
c.*220+6089A>T (n.*220+6089A>T)
c.705A>T (p.Arg235=)
c.732A>T (p.Arg244=)
c.1587A>T (p.Arg529=)
c.1401A>T (p.Arg467=)
c.1320A>T (p.Arg440=)
c.1026A>T (p.Arg342=)
c.1407A>T (p.Arg469=)
2g.48688135T>CCA346745459GTF2A1L,LHCGR,STON1-GTF2A1Lc.1662A>G (p.Arg554=)
c.952A>G (p.Lys318Glu)
c.3441+16455T>C (n.3441+16455T>C)
c.*406A>G (n.*406A>G)
c.1581A>G (p.Arg527=)
c.276+16455T>C (n.276+16455T>C)
c.*220+6089A>G (n.*220+6089A>G)
c.705A>G (p.Arg235=)
c.732A>G (p.Arg244=)
c.1587A>G (p.Arg529=)
c.1401A>G (p.Arg467=)
c.1320A>G (p.Arg440=)
c.1026A>G (p.Arg342=)
c.1407A>G (p.Arg469=)
2g.48688135T>GCA346745461GTF2A1L,LHCGR,STON1-GTF2A1Lc.1662A>C (p.Arg554=)
c.952A>C (p.Lys318Gln)
c.3441+16455T>G (n.3441+16455T>G)
c.*406A>C (n.*406A>C)
c.1581A>C (p.Arg527=)
c.276+16455T>G (n.276+16455T>G)
c.*220+6089A>C (n.*220+6089A>C)
c.705A>C (p.Arg235=)
c.732A>C (p.Arg244=)
c.1587A>C (p.Arg529=)
c.1401A>C (p.Arg467=)
c.1320A>C (p.Arg440=)
c.1026A>C (p.Arg342=)
c.1407A>C (p.Arg469=)
2g.48688135_48688139delCA2749836834GTF2A1L,LHCGR,STON1-GTF2A1Lc.1658_1662del (p.Val553GlufsTer9)
c.948_952del (p.Ser317ThrfsTer4)
c.3441+16455_3441+16459del (n.3441+16455_3441+16459del)
c.*402_*406del (n.*402_*406del)
c.1577_1581del (p.Val526GlufsTer9)
c.276+16455_276+16459del (n.276+16455_276+16459del)
c.*220+6085_*220+6089del (n.*220+6085_*220+6089del)
c.701_705del (p.Val234GlufsTer9)
c.728_732del (p.Val243GlufsTer9)
c.1583_1587del (p.Val528GlufsTer9)
c.1397_1401del (p.Val466GlufsTer9)
c.1316_1320del (p.Val439GlufsTer9)
c.1022_1026del (p.Val341GlufsTer9)
c.1403_1407del (p.Val468GlufsTer9)
2g.48688136C>ACA346745463GTF2A1L,LHCGR,STON1-GTF2A1Lc.1661G>T (p.Arg554Leu)
c.951G>T (p.Ser317=)
c.3441+16456C>A (n.3441+16456C>A)
c.*405G>T (n.*405G>T)
c.1580G>T (p.Arg527Leu)
c.276+16456C>A (n.276+16456C>A)
c.*220+6088G>T (n.*220+6088G>T)
c.704G>T (p.Arg235Leu)
c.731G>T (p.Arg244Leu)
c.1586G>T (p.Arg529Leu)
c.1400G>T (p.Arg467Leu)
c.1319G>T (p.Arg440Leu)
c.1025G>T (p.Arg342Leu)
c.1406G>T (p.Arg469Leu)
2g.48688136C=CA1248601003GTF2A1L,LHCGR,STON1-GTF2A1Lc.1661G= (p.Arg554=)
c.951G= (p.Ser317=)
c.3441+16456C= (n.3441+16456C=)
c.*405G= (n.*405G=)
c.1580G= (p.Arg527=)
c.276+16456C= (n.276+16456C=)
c.*220+6088G= (n.*220+6088G=)
c.704G= (p.Arg235=)
c.731G= (p.Arg244=)
c.1586G= (p.Arg529=)
c.1400G= (p.Arg467=)
c.1319G= (p.Arg440=)
c.1025G= (p.Arg342=)
c.1406G= (p.Arg469=)
2g.48688136C>GCA346745464GTF2A1L,LHCGR,STON1-GTF2A1Lc.1661G>C (p.Arg554Pro)
c.951G>C (p.Ser317=)
c.3441+16456C>G (n.3441+16456C>G)
c.*405G>C (n.*405G>C)
c.1580G>C (p.Arg527Pro)
c.276+16456C>G (n.276+16456C>G)
c.*220+6088G>C (n.*220+6088G>C)
c.704G>C (p.Arg235Pro)
c.731G>C (p.Arg244Pro)
c.1586G>C (p.Arg529Pro)
c.1400G>C (p.Arg467Pro)
c.1319G>C (p.Arg440Pro)
c.1025G>C (p.Arg342Pro)
c.1406G>C (p.Arg469Pro)
2g.48688136C>TCA1653005GTF2A1L,LHCGR,STON1-GTF2A1Lc.1661G>A (p.Arg554Gln)
c.951G>A (p.Ser317=)
c.3441+16456C>T (n.3441+16456C>T)
c.*405G>A (n.*405G>A)
c.1580G>A (p.Arg527Gln)
c.276+16456C>T (n.276+16456C>T)
c.*220+6088G>A (n.*220+6088G>A)
c.704G>A (p.Arg235Gln)
c.731G>A (p.Arg244Gln)
c.1586G>A (p.Arg529Gln)
c.1400G>A (p.Arg467Gln)
c.1319G>A (p.Arg440Gln)
c.1025G>A (p.Arg342Gln)
c.1406G>A (p.Arg469Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.48688137G>ACA123921GTF2A1L,LHCGR,STON1-GTF2A1Lc.1660C>T (p.Arg554Ter)
c.950C>T (p.Ser317Leu)
c.3441+16457G>A (n.3441+16457G>A)
c.*404C>T (n.*404C>T)
c.1579C>T (p.Arg527Ter)
c.276+16457G>A (n.276+16457G>A)
c.*220+6087C>T (n.*220+6087C>T)
c.703C>T (p.Arg235Ter)
c.730C>T (p.Arg244Ter)
c.1585C>T (p.Arg529Ter)
c.1399C>T (p.Arg467Ter)
c.1318C>T (p.Arg440Ter)
c.1024C>T (p.Arg342Ter)
c.1405C>T (p.Arg469Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.48688137G>CCA346745471GTF2A1L,LHCGR,STON1-GTF2A1Lc.1660C>G (p.Arg554Gly)
c.950C>G (p.Ser317Trp)
c.3441+16457G>C (n.3441+16457G>C)
c.*404C>G (n.*404C>G)
c.1579C>G (p.Arg527Gly)
c.276+16457G>C (n.276+16457G>C)
c.*220+6087C>G (n.*220+6087C>G)
c.703C>G (p.Arg235Gly)
c.730C>G (p.Arg244Gly)
c.1585C>G (p.Arg529Gly)
c.1399C>G (p.Arg467Gly)
c.1318C>G (p.Arg440Gly)
c.1024C>G (p.Arg342Gly)
c.1405C>G (p.Arg469Gly)
 gnomAD v4
2g.48688137G=CA1248601004GTF2A1L,LHCGR,STON1-GTF2A1Lc.1660C= (p.Arg554=)
c.950C= (p.Ser317=)
c.3441+16457G= (n.3441+16457G=)
c.*404C= (n.*404C=)
c.1579C= (p.Arg527=)
c.276+16457G= (n.276+16457G=)
c.*220+6087C= (n.*220+6087C=)
c.703C= (p.Arg235=)
c.730C= (p.Arg244=)
c.1585C= (p.Arg529=)
c.1399C= (p.Arg467=)
c.1318C= (p.Arg440=)
c.1024C= (p.Arg342=)
c.1405C= (p.Arg469=)
2g.48688137G>TCA346745467GTF2A1L,LHCGR,STON1-GTF2A1Lc.1660C>A (p.Arg554=)
c.950C>A (p.Ser317Ter)
c.3441+16457G>T (n.3441+16457G>T)
c.*404C>A (n.*404C>A)
c.1579C>A (p.Arg527=)
c.276+16457G>T (n.276+16457G>T)
c.*220+6087C>A (n.*220+6087C>A)
c.703C>A (p.Arg235=)
c.730C>A (p.Arg244=)
c.1585C>A (p.Arg529=)
c.1399C>A (p.Arg467=)
c.1318C>A (p.Arg440=)
c.1024C>A (p.Arg342=)
c.1405C>A (p.Arg469=)
2g.48688138A=CA1248601005GTF2A1L,LHCGR,STON1-GTF2A1Lc.1659T= (p.Val553=)
c.949T= (p.Ser317=)
c.3441+16458A= (n.3441+16458A=)
c.*403T= (n.*403T=)
c.1578T= (p.Val526=)
c.276+16458A= (n.276+16458A=)
c.*220+6086T= (n.*220+6086T=)
c.702T= (p.Val234=)
c.729T= (p.Val243=)
c.1584T= (p.Val528=)
c.1398T= (p.Val466=)
c.1317T= (p.Val439=)
c.1023T= (p.Val341=)
c.1404T= (p.Val468=)
2g.48688138A>CCA346745474GTF2A1L,LHCGR,STON1-GTF2A1Lc.1659T>G (p.Val553=)
c.949T>G (p.Ser317Ala)
c.3441+16458A>C (n.3441+16458A>C)
c.*403T>G (n.*403T>G)
c.1578T>G (p.Val526=)
c.276+16458A>C (n.276+16458A>C)
c.*220+6086T>G (n.*220+6086T>G)
c.702T>G (p.Val234=)
c.729T>G (p.Val243=)
c.1584T>G (p.Val528=)
c.1398T>G (p.Val466=)
c.1317T>G (p.Val439=)
c.1023T>G (p.Val341=)
c.1404T>G (p.Val468=)
2g.48688138A>GCA346745479GTF2A1L,LHCGR,STON1-GTF2A1Lc.1659T>C (p.Val553=)
c.949T>C (p.Ser317Pro)
c.3441+16458A>G (n.3441+16458A>G)
c.*403T>C (n.*403T>C)
c.1578T>C (p.Val526=)
c.276+16458A>G (n.276+16458A>G)
c.*220+6086T>C (n.*220+6086T>C)
c.702T>C (p.Val234=)
c.729T>C (p.Val243=)
c.1584T>C (p.Val528=)
c.1398T>C (p.Val466=)
c.1317T>C (p.Val439=)
c.1023T>C (p.Val341=)
c.1404T>C (p.Val468=)
2g.48688138A>TCA346745481GTF2A1L,LHCGR,STON1-GTF2A1Lc.1659T>A (p.Val553=)
c.949T>A (p.Ser317Thr)
c.3441+16458A>T (n.3441+16458A>T)
c.*403T>A (n.*403T>A)
c.1578T>A (p.Val526=)
c.276+16458A>T (n.276+16458A>T)
c.*220+6086T>A (n.*220+6086T>A)
c.702T>A (p.Val234=)
c.729T>A (p.Val243=)
c.1584T>A (p.Val528=)
c.1398T>A (p.Val466=)
c.1317T>A (p.Val439=)
c.1023T>A (p.Val341=)
c.1404T>A (p.Val468=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688139A>CCA346745484GTF2A1L,LHCGR,STON1-GTF2A1Lc.1658T>G (p.Val553Gly)
c.948T>G (p.Leu316=)
c.3441+16459A>C (n.3441+16459A>C)
c.*402T>G (n.*402T>G)
c.1577T>G (p.Val526Gly)
c.276+16459A>C (n.276+16459A>C)
c.*220+6085T>G (n.*220+6085T>G)
c.701T>G (p.Val234Gly)
c.728T>G (p.Val243Gly)
c.1583T>G (p.Val528Gly)
c.1397T>G (p.Val466Gly)
c.1316T>G (p.Val439Gly)
c.1022T>G (p.Val341Gly)
c.1403T>G (p.Val468Gly)
2g.48688139A>GCA346745489GTF2A1L,LHCGR,STON1-GTF2A1Lc.1658T>C (p.Val553Ala)
c.948T>C (p.Leu316=)
c.3441+16459A>G (n.3441+16459A>G)
c.*402T>C (n.*402T>C)
c.1577T>C (p.Val526Ala)
c.276+16459A>G (n.276+16459A>G)
c.*220+6085T>C (n.*220+6085T>C)
c.701T>C (p.Val234Ala)
c.728T>C (p.Val243Ala)
c.1583T>C (p.Val528Ala)
c.1397T>C (p.Val466Ala)
c.1316T>C (p.Val439Ala)
c.1022T>C (p.Val341Ala)
c.1403T>C (p.Val468Ala)
 COSMIC
2g.48688139A>TCA346745493GTF2A1L,LHCGR,STON1-GTF2A1Lc.1658T>A (p.Val553Asp)
c.948T>A (p.Leu316=)
c.3441+16459A>T (n.3441+16459A>T)
c.*402T>A (n.*402T>A)
c.1577T>A (p.Val526Asp)
c.276+16459A>T (n.276+16459A>T)
c.*220+6085T>A (n.*220+6085T>A)
c.701T>A (p.Val234Asp)
c.728T>A (p.Val243Asp)
c.1583T>A (p.Val528Asp)
c.1397T>A (p.Val466Asp)
c.1316T>A (p.Val439Asp)
c.1022T>A (p.Val341Asp)
c.1403T>A (p.Val468Asp)
2g.48688140C>ACA346745494GTF2A1L,LHCGR,STON1-GTF2A1Lc.1657G>T (p.Val553Phe)
c.948-1G>T (n.948-1G>T)
c.3441+16460C>A (n.3441+16460C>A)
c.*401G>T (n.*401G>T)
c.1576G>T (p.Val526Phe)
c.276+16460C>A (n.276+16460C>A)
c.*220+6084G>T (n.*220+6084G>T)
c.700G>T (p.Val234Phe)
c.727G>T (p.Val243Phe)
c.1582G>T (p.Val528Phe)
c.1396G>T (p.Val466Phe)
c.1315G>T (p.Val439Phe)
c.1021G>T (p.Val341Phe)
c.1402G>T (p.Val468Phe)
2g.48688140C=CA1248601006GTF2A1L,LHCGR,STON1-GTF2A1Lc.1657G= (p.Val553=)
c.948-1G= (n.948-1G=)
c.3441+16460C= (n.3441+16460C=)
c.*401G= (n.*401G=)
c.1576G= (p.Val526=)
c.276+16460C= (n.276+16460C=)
c.*220+6084G= (n.*220+6084G=)
c.700G= (p.Val234=)
c.727G= (p.Val243=)
c.1582G= (p.Val528=)
c.1396G= (p.Val466=)
c.1315G= (p.Val439=)
c.1021G= (p.Val341=)
c.1402G= (p.Val468=)
2g.48688140C>GCA346745495GTF2A1L,LHCGR,STON1-GTF2A1Lc.1657G>C (p.Val553Leu)
c.948-1G>C (n.948-1G>C)
c.3441+16460C>G (n.3441+16460C>G)
c.*401G>C (n.*401G>C)
c.1576G>C (p.Val526Leu)
c.276+16460C>G (n.276+16460C>G)
c.*220+6084G>C (n.*220+6084G>C)
c.700G>C (p.Val234Leu)
c.727G>C (p.Val243Leu)
c.1582G>C (p.Val528Leu)
c.1396G>C (p.Val466Leu)
c.1315G>C (p.Val439Leu)
c.1021G>C (p.Val341Leu)
c.1402G>C (p.Val468Leu)
 dbSNP gnomAD v4
2g.48688140C>TCA346745496GTF2A1L,LHCGR,STON1-GTF2A1Lc.1657G>A (p.Val553Ile)
c.948-1G>A (n.948-1G>A)
c.3441+16460C>T (n.3441+16460C>T)
c.*401G>A (n.*401G>A)
c.1576G>A (p.Val526Ile)
c.276+16460C>T (n.276+16460C>T)
c.*220+6084G>A (n.*220+6084G>A)
c.700G>A (p.Val234Ile)
c.727G>A (p.Val243Ile)
c.1582G>A (p.Val528Ile)
c.1396G>A (p.Val466Ile)
c.1315G>A (p.Val439Ile)
c.1021G>A (p.Val341Ile)
c.1402G>A (p.Val468Ile)
2g.48688140_48688141delinsCTCA1248601007GTF2A1L,LHCGR,STON1-GTF2A1Lc.1656_1657delinsAG (p.Ala552=)
c.948-2_948-1delinsAG (n.948-2_948-1delinsAG)
c.3441+16460_3441+16461delinsCT (n.3441+16460_3441+16461delinsCT)
c.*400_*401delinsAG (n.*400_*401delinsAG)
c.1575_1576delinsAG (p.Ala525=)
c.276+16460_276+16461delinsCT (n.276+16460_276+16461delinsCT)
c.*220+6083_*220+6084delinsAG (n.*220+6083_*220+6084delinsAG)
c.699_700delinsAG (p.Ala233=)
c.726_727delinsAG (p.Ala242=)
c.1581_1582delinsAG (p.Ala527=)
c.1395_1396delinsAG (p.Ala465=)
c.1314_1315delinsAG (p.Ala438=)
c.1020_1021delinsAG (p.Ala340=)
c.1401_1402delinsAG (p.Ala467=)
2g.48688141delCA1653006GTF2A1L,LHCGR,STON1-GTF2A1Lc.1656del (p.Val553PhefsTer6)
c.948-2del (n.948-2del)
c.3441+16461del (n.3441+16461del)
c.*400del (n.*400del)
c.1575del (p.Val526PhefsTer6)
c.276+16461del (n.276+16461del)
c.*220+6083del (n.*220+6083del)
c.699del (p.Val234PhefsTer6)
c.726del (p.Val243PhefsTer6)
c.1581del (p.Val528PhefsTer6)
c.1395del (p.Val466PhefsTer6)
c.1314del (p.Val439PhefsTer6)
c.1020del (p.Val341PhefsTer6)
c.1401del (p.Val468PhefsTer6)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688141T>ACA346745497GTF2A1L,LHCGR,STON1-GTF2A1Lc.1656A>T (p.Ala552=)
c.948-2A>T (n.948-2A>T)
c.3441+16461T>A (n.3441+16461T>A)
c.*400A>T (n.*400A>T)
c.1575A>T (p.Ala525=)
c.276+16461T>A (n.276+16461T>A)
c.*220+6083A>T (n.*220+6083A>T)
c.699A>T (p.Ala233=)
c.726A>T (p.Ala242=)
c.1581A>T (p.Ala527=)
c.1395A>T (p.Ala465=)
c.1314A>T (p.Ala438=)
c.1020A>T (p.Ala340=)
c.1401A>T (p.Ala467=)
 dbSNP
2g.48688141T>CCA346745500GTF2A1L,LHCGR,STON1-GTF2A1Lc.1656A>G (p.Ala552=)
c.948-2A>G (n.948-2A>G)
c.3441+16461T>C (n.3441+16461T>C)
c.*400A>G (n.*400A>G)
c.1575A>G (p.Ala525=)
c.276+16461T>C (n.276+16461T>C)
c.*220+6083A>G (n.*220+6083A>G)
c.699A>G (p.Ala233=)
c.726A>G (p.Ala242=)
c.1581A>G (p.Ala527=)
c.1395A>G (p.Ala465=)
c.1314A>G (p.Ala438=)
c.1020A>G (p.Ala340=)
c.1401A>G (p.Ala467=)
2g.48688141T>GCA346745502GTF2A1L,LHCGR,STON1-GTF2A1Lc.1656A>C (p.Ala552=)
c.948-2A>C (n.948-2A>C)
c.3441+16461T>G (n.3441+16461T>G)
c.*400A>C (n.*400A>C)
c.1575A>C (p.Ala525=)
c.276+16461T>G (n.276+16461T>G)
c.*220+6083A>C (n.*220+6083A>C)
c.699A>C (p.Ala233=)
c.726A>C (p.Ala242=)
c.1581A>C (p.Ala527=)
c.1395A>C (p.Ala465=)
c.1314A>C (p.Ala438=)
c.1020A>C (p.Ala340=)
c.1401A>C (p.Ala467=)
 dbSNP gnomAD v4
2g.48688141T=CA1248601008GTF2A1L,LHCGR,STON1-GTF2A1Lc.1656A= (p.Ala552=)
c.948-2A= (n.948-2A=)
c.3441+16461T= (n.3441+16461T=)
c.*400A= (n.*400A=)
c.1575A= (p.Ala525=)
c.276+16461T= (n.276+16461T=)
c.*220+6083A= (n.*220+6083A=)
c.699A= (p.Ala233=)
c.726A= (p.Ala242=)
c.1581A= (p.Ala527=)
c.1395A= (p.Ala465=)
c.1314A= (p.Ala438=)
c.1020A= (p.Ala340=)
c.1401A= (p.Ala467=)
2g.48688142G>ACA346745507GTF2A1L,LHCGR,STON1-GTF2A1Lc.1655C>T (p.Ala552Val)
c.948-3C>T (n.948-3C>T)
c.3441+16462G>A (n.3441+16462G>A)
c.*399C>T (n.*399C>T)
c.1574C>T (p.Ala525Val)
c.276+16462G>A (n.276+16462G>A)
c.*220+6082C>T (n.*220+6082C>T)
c.698C>T (p.Ala233Val)
c.725C>T (p.Ala242Val)
c.1580C>T (p.Ala527Val)
c.1394C>T (p.Ala465Val)
c.1313C>T (p.Ala438Val)
c.1019C>T (p.Ala340Val)
c.1400C>T (p.Ala467Val)
 dbSNP gnomAD v3 gnomAD v4
2g.48688142G>CCA346745504GTF2A1L,LHCGR,STON1-GTF2A1Lc.1655C>G (p.Ala552Gly)
c.948-3C>G (n.948-3C>G)
c.3441+16462G>C (n.3441+16462G>C)
c.*399C>G (n.*399C>G)
c.1574C>G (p.Ala525Gly)
c.276+16462G>C (n.276+16462G>C)
c.*220+6082C>G (n.*220+6082C>G)
c.698C>G (p.Ala233Gly)
c.725C>G (p.Ala242Gly)
c.1580C>G (p.Ala527Gly)
c.1394C>G (p.Ala465Gly)
c.1313C>G (p.Ala438Gly)
c.1019C>G (p.Ala340Gly)
c.1400C>G (p.Ala467Gly)
2g.48688142G=CA1248601009GTF2A1L,LHCGR,STON1-GTF2A1Lc.1655C= (p.Ala552=)
c.948-3C= (n.948-3C=)
c.3441+16462G= (n.3441+16462G=)
c.*399C= (n.*399C=)
c.1574C= (p.Ala525=)
c.276+16462G= (n.276+16462G=)
c.*220+6082C= (n.*220+6082C=)
c.698C= (p.Ala233=)
c.725C= (p.Ala242=)
c.1580C= (p.Ala527=)
c.1394C= (p.Ala465=)
c.1313C= (p.Ala438=)
c.1019C= (p.Ala340=)
c.1400C= (p.Ala467=)
2g.48688142G>TCA346745503GTF2A1L,LHCGR,STON1-GTF2A1Lc.1655C>A (p.Ala552Glu)
c.948-3C>A (n.948-3C>A)
c.3441+16462G>T (n.3441+16462G>T)
c.*399C>A (n.*399C>A)
c.1574C>A (p.Ala525Glu)
c.276+16462G>T (n.276+16462G>T)
c.*220+6082C>A (n.*220+6082C>A)
c.698C>A (p.Ala233Glu)
c.725C>A (p.Ala242Glu)
c.1580C>A (p.Ala527Glu)
c.1394C>A (p.Ala465Glu)
c.1313C>A (p.Ala438Glu)
c.1019C>A (p.Ala340Glu)
c.1400C>A (p.Ala467Glu)
2g.48688143C>ACA346745510GTF2A1L,LHCGR,STON1-GTF2A1Lc.1654G>T (p.Ala552Ser)
c.948-4G>T (n.948-4G>T)
c.3441+16463C>A (n.3441+16463C>A)
c.*398G>T (n.*398G>T)
c.1573G>T (p.Ala525Ser)
c.276+16463C>A (n.276+16463C>A)
c.*220+6081G>T (n.*220+6081G>T)
c.697G>T (p.Ala233Ser)
c.724G>T (p.Ala242Ser)
c.1579G>T (p.Ala527Ser)
c.1393G>T (p.Ala465Ser)
c.1312G>T (p.Ala438Ser)
c.1018G>T (p.Ala340Ser)
c.1399G>T (p.Ala467Ser)
2g.48688143C>GCA346745514GTF2A1L,LHCGR,STON1-GTF2A1Lc.1654G>C (p.Ala552Pro)
c.948-4G>C (n.948-4G>C)
c.3441+16463C>G (n.3441+16463C>G)
c.*398G>C (n.*398G>C)
c.1573G>C (p.Ala525Pro)
c.276+16463C>G (n.276+16463C>G)
c.*220+6081G>C (n.*220+6081G>C)
c.697G>C (p.Ala233Pro)
c.724G>C (p.Ala242Pro)
c.1579G>C (p.Ala527Pro)
c.1393G>C (p.Ala465Pro)
c.1312G>C (p.Ala438Pro)
c.1018G>C (p.Ala340Pro)
c.1399G>C (p.Ala467Pro)
2g.48688143C>TCA346745518GTF2A1L,LHCGR,STON1-GTF2A1Lc.1654G>A (p.Ala552Thr)
c.948-4G>A (n.948-4G>A)
c.3441+16463C>T (n.3441+16463C>T)
c.*398G>A (n.*398G>A)
c.1573G>A (p.Ala525Thr)
c.276+16463C>T (n.276+16463C>T)
c.*220+6081G>A (n.*220+6081G>A)
c.697G>A (p.Ala233Thr)
c.724G>A (p.Ala242Thr)
c.1579G>A (p.Ala527Thr)
c.1393G>A (p.Ala465Thr)
c.1312G>A (p.Ala438Thr)
c.1018G>A (p.Ala340Thr)
c.1399G>A (p.Ala467Thr)
 gnomAD v4
2g.48688144A=CA1248601010GTF2A1L,LHCGR,STON1-GTF2A1Lc.1653T= (p.Phe551=)
c.948-5T= (n.948-5T=)
c.3441+16464A= (n.3441+16464A=)
c.*397T= (n.*397T=)
c.1572T= (p.Phe524=)
c.276+16464A= (n.276+16464A=)
c.*220+6080T= (n.*220+6080T=)
c.696T= (p.Phe232=)
c.723T= (p.Phe241=)
c.1578T= (p.Phe526=)
c.1392T= (p.Phe464=)
c.1311T= (p.Phe437=)
c.1017T= (p.Phe339=)
c.1398T= (p.Phe466=)
2g.48688144A>CCA346745521GTF2A1L,LHCGR,STON1-GTF2A1Lc.1653T>G (p.Phe551Leu)
c.948-5T>G (n.948-5T>G)
c.3441+16464A>C (n.3441+16464A>C)
c.*397T>G (n.*397T>G)
c.1572T>G (p.Phe524Leu)
c.276+16464A>C (n.276+16464A>C)
c.*220+6080T>G (n.*220+6080T>G)
c.696T>G (p.Phe232Leu)
c.723T>G (p.Phe241Leu)
c.1578T>G (p.Phe526Leu)
c.1392T>G (p.Phe464Leu)
c.1311T>G (p.Phe437Leu)
c.1017T>G (p.Phe339Leu)
c.1398T>G (p.Phe466Leu)
 dbSNP
2g.48688144A>GCA426125149GTF2A1L,LHCGR,STON1-GTF2A1Lc.1653T>C (p.Phe551=)
c.948-5T>C (n.948-5T>C)
c.3441+16464A>G (n.3441+16464A>G)
c.*397T>C (n.*397T>C)
c.1572T>C (p.Phe524=)
c.276+16464A>G (n.276+16464A>G)
c.*220+6080T>C (n.*220+6080T>C)
c.696T>C (p.Phe232=)
c.723T>C (p.Phe241=)
c.1578T>C (p.Phe526=)
c.1392T>C (p.Phe464=)
c.1311T>C (p.Phe437=)
c.1017T>C (p.Phe339=)
c.1398T>C (p.Phe466=)
2g.48688144A>TCA346745522GTF2A1L,LHCGR,STON1-GTF2A1Lc.1653T>A (p.Phe551Leu)
c.948-5T>A (n.948-5T>A)
c.3441+16464A>T (n.3441+16464A>T)
c.*397T>A (n.*397T>A)
c.1572T>A (p.Phe524Leu)
c.276+16464A>T (n.276+16464A>T)
c.*220+6080T>A (n.*220+6080T>A)
c.696T>A (p.Phe232Leu)
c.723T>A (p.Phe241Leu)
c.1578T>A (p.Phe526Leu)
c.1392T>A (p.Phe464Leu)
c.1311T>A (p.Phe437Leu)
c.1017T>A (p.Phe339Leu)
c.1398T>A (p.Phe466Leu)
2g.48688145A>CCA346745527GTF2A1L,LHCGR,STON1-GTF2A1Lc.1652T>G (p.Phe551Cys)
c.948-6T>G (n.948-6T>G)
c.3441+16465A>C (n.3441+16465A>C)
c.*396T>G (n.*396T>G)
c.1571T>G (p.Phe524Cys)
c.276+16465A>C (n.276+16465A>C)
c.*220+6079T>G (n.*220+6079T>G)
c.695T>G (p.Phe232Cys)
c.722T>G (p.Phe241Cys)
c.1577T>G (p.Phe526Cys)
c.1391T>G (p.Phe464Cys)
c.1310T>G (p.Phe437Cys)
c.1016T>G (p.Phe339Cys)
c.1397T>G (p.Phe466Cys)
2g.48688145A>GCA346745537GTF2A1L,LHCGR,STON1-GTF2A1Lc.1652T>C (p.Phe551Ser)
c.948-6T>C (n.948-6T>C)
c.3441+16465A>G (n.3441+16465A>G)
c.*396T>C (n.*396T>C)
c.1571T>C (p.Phe524Ser)
c.276+16465A>G (n.276+16465A>G)
c.*220+6079T>C (n.*220+6079T>C)
c.695T>C (p.Phe232Ser)
c.722T>C (p.Phe241Ser)
c.1577T>C (p.Phe526Ser)
c.1391T>C (p.Phe464Ser)
c.1310T>C (p.Phe437Ser)
c.1016T>C (p.Phe339Ser)
c.1397T>C (p.Phe466Ser)
 gnomAD v4
2g.48688145A>TCA346745541GTF2A1L,LHCGR,STON1-GTF2A1Lc.1652T>A (p.Phe551Tyr)
c.948-6T>A (n.948-6T>A)
c.3441+16465A>T (n.3441+16465A>T)
c.*396T>A (n.*396T>A)
c.1571T>A (p.Phe524Tyr)
c.276+16465A>T (n.276+16465A>T)
c.*220+6079T>A (n.*220+6079T>A)
c.695T>A (p.Phe232Tyr)
c.722T>A (p.Phe241Tyr)
c.1577T>A (p.Phe526Tyr)
c.1391T>A (p.Phe464Tyr)
c.1310T>A (p.Phe437Tyr)
c.1016T>A (p.Phe339Tyr)
c.1397T>A (p.Phe466Tyr)
2g.48688146A>CCA346745544GTF2A1L,LHCGR,STON1-GTF2A1Lc.1651T>G (p.Phe551Val)
c.948-7T>G (n.948-7T>G)
c.3441+16466A>C (n.3441+16466A>C)
c.*395T>G (n.*395T>G)
c.1570T>G (p.Phe524Val)
c.276+16466A>C (n.276+16466A>C)
c.*220+6078T>G (n.*220+6078T>G)
c.694T>G (p.Phe232Val)
c.721T>G (p.Phe241Val)
c.1576T>G (p.Phe526Val)
c.1390T>G (p.Phe464Val)
c.1309T>G (p.Phe437Val)
c.1015T>G (p.Phe339Val)
c.1396T>G (p.Phe466Val)
2g.48688146A>GCA346745547GTF2A1L,LHCGR,STON1-GTF2A1Lc.1651T>C (p.Phe551Leu)
c.948-7T>C (n.948-7T>C)
c.3441+16466A>G (n.3441+16466A>G)
c.*395T>C (n.*395T>C)
c.1570T>C (p.Phe524Leu)
c.276+16466A>G (n.276+16466A>G)
c.*220+6078T>C (n.*220+6078T>C)
c.694T>C (p.Phe232Leu)
c.721T>C (p.Phe241Leu)
c.1576T>C (p.Phe526Leu)
c.1390T>C (p.Phe464Leu)
c.1309T>C (p.Phe437Leu)
c.1015T>C (p.Phe339Leu)
c.1396T>C (p.Phe466Leu)
2g.48688146A>TCA346745548GTF2A1L,LHCGR,STON1-GTF2A1Lc.1651T>A (p.Phe551Ile)
c.948-7T>A (n.948-7T>A)
c.3441+16466A>T (n.3441+16466A>T)
c.*395T>A (n.*395T>A)
c.1570T>A (p.Phe524Ile)
c.276+16466A>T (n.276+16466A>T)
c.*220+6078T>A (n.*220+6078T>A)
c.694T>A (p.Phe232Ile)
c.721T>A (p.Phe241Ile)
c.1576T>A (p.Phe526Ile)
c.1390T>A (p.Phe464Ile)
c.1309T>A (p.Phe437Ile)
c.1015T>A (p.Phe339Ile)
c.1396T>A (p.Phe466Ile)
2g.48688147A>CCA346745549GTF2A1L,LHCGR,STON1-GTF2A1Lc.1650T>G (p.Tyr550Ter)
c.948-8T>G (n.948-8T>G)
c.3441+16467A>C (n.3441+16467A>C)
c.*394T>G (n.*394T>G)
c.1569T>G (p.Tyr523Ter)
c.276+16467A>C (n.276+16467A>C)
c.*220+6077T>G (n.*220+6077T>G)
c.693T>G (p.Tyr231Ter)
c.720T>G (p.Tyr240Ter)
c.1575T>G (p.Tyr525Ter)
c.1389T>G (p.Tyr463Ter)
c.1308T>G (p.Tyr436Ter)
c.1014T>G (p.Tyr338Ter)
c.1395T>G (p.Tyr465Ter)
2g.48688147A>GCA426125153GTF2A1L,LHCGR,STON1-GTF2A1Lc.1650T>C (p.Tyr550=)
c.948-8T>C (n.948-8T>C)
c.3441+16467A>G (n.3441+16467A>G)
c.*394T>C (n.*394T>C)
c.1569T>C (p.Tyr523=)
c.276+16467A>G (n.276+16467A>G)
c.*220+6077T>C (n.*220+6077T>C)
c.693T>C (p.Tyr231=)
c.720T>C (p.Tyr240=)
c.1575T>C (p.Tyr525=)
c.1389T>C (p.Tyr463=)
c.1308T>C (p.Tyr436=)
c.1014T>C (p.Tyr338=)
c.1395T>C (p.Tyr465=)
2g.48688147A>TCA346745550GTF2A1L,LHCGR,STON1-GTF2A1Lc.1650T>A (p.Tyr550Ter)
c.948-8T>A (n.948-8T>A)
c.3441+16467A>T (n.3441+16467A>T)
c.*394T>A (n.*394T>A)
c.1569T>A (p.Tyr523Ter)
c.276+16467A>T (n.276+16467A>T)
c.*220+6077T>A (n.*220+6077T>A)
c.693T>A (p.Tyr231Ter)
c.720T>A (p.Tyr240Ter)
c.1575T>A (p.Tyr525Ter)
c.1389T>A (p.Tyr463Ter)
c.1308T>A (p.Tyr436Ter)
c.1014T>A (p.Tyr338Ter)
c.1395T>A (p.Tyr465Ter)
2g.48688148T>ACA346745563GTF2A1L,LHCGR,STON1-GTF2A1Lc.1649A>T (p.Tyr550Phe)
c.948-9A>T (n.948-9A>T)
c.3441+16468T>A (n.3441+16468T>A)
c.*393A>T (n.*393A>T)
c.1568A>T (p.Tyr523Phe)
c.276+16468T>A (n.276+16468T>A)
c.*220+6076A>T (n.*220+6076A>T)
c.692A>T (p.Tyr231Phe)
c.719A>T (p.Tyr240Phe)
c.1574A>T (p.Tyr525Phe)
c.1388A>T (p.Tyr463Phe)
c.1307A>T (p.Tyr436Phe)
c.1013A>T (p.Tyr338Phe)
c.1394A>T (p.Tyr465Phe)
2g.48688148T>CCA346745561GTF2A1L,LHCGR,STON1-GTF2A1Lc.1649A>G (p.Tyr550Cys)
c.948-9A>G (n.948-9A>G)
c.3441+16468T>C (n.3441+16468T>C)
c.*393A>G (n.*393A>G)
c.1568A>G (p.Tyr523Cys)
c.276+16468T>C (n.276+16468T>C)
c.*220+6076A>G (n.*220+6076A>G)
c.692A>G (p.Tyr231Cys)
c.719A>G (p.Tyr240Cys)
c.1574A>G (p.Tyr525Cys)
c.1388A>G (p.Tyr463Cys)
c.1307A>G (p.Tyr436Cys)
c.1013A>G (p.Tyr338Cys)
c.1394A>G (p.Tyr465Cys)
2g.48688148T>GCA346745553GTF2A1L,LHCGR,STON1-GTF2A1Lc.1649A>C (p.Tyr550Ser)
c.948-9A>C (n.948-9A>C)
c.3441+16468T>G (n.3441+16468T>G)
c.*393A>C (n.*393A>C)
c.1568A>C (p.Tyr523Ser)
c.276+16468T>G (n.276+16468T>G)
c.*220+6076A>C (n.*220+6076A>C)
c.692A>C (p.Tyr231Ser)
c.719A>C (p.Tyr240Ser)
c.1574A>C (p.Tyr525Ser)
c.1388A>C (p.Tyr463Ser)
c.1307A>C (p.Tyr436Ser)
c.1013A>C (p.Tyr338Ser)
c.1394A>C (p.Tyr465Ser)
2g.48688149A>CCA346745567GTF2A1L,LHCGR,STON1-GTF2A1Lc.1648T>G (p.Tyr550Asp)
c.948-10T>G (n.948-10T>G)
c.3441+16469A>C (n.3441+16469A>C)
c.*392T>G (n.*392T>G)
c.1567T>G (p.Tyr523Asp)
c.276+16469A>C (n.276+16469A>C)
c.*220+6075T>G (n.*220+6075T>G)
c.691T>G (p.Tyr231Asp)
c.718T>G (p.Tyr240Asp)
c.1573T>G (p.Tyr525Asp)
c.1387T>G (p.Tyr463Asp)
c.1306T>G (p.Tyr436Asp)
c.1012T>G (p.Tyr338Asp)
c.1393T>G (p.Tyr465Asp)
 gnomAD v4
2g.48688149A>GCA346745570GTF2A1L,LHCGR,STON1-GTF2A1Lc.1648T>C (p.Tyr550His)
c.948-10T>C (n.948-10T>C)
c.3441+16469A>G (n.3441+16469A>G)
c.*392T>C (n.*392T>C)
c.1567T>C (p.Tyr523His)
c.276+16469A>G (n.276+16469A>G)
c.*220+6075T>C (n.*220+6075T>C)
c.691T>C (p.Tyr231His)
c.718T>C (p.Tyr240His)
c.1573T>C (p.Tyr525His)
c.1387T>C (p.Tyr463His)
c.1306T>C (p.Tyr436His)
c.1012T>C (p.Tyr338His)
c.1393T>C (p.Tyr465His)
2g.48688149A>TCA346745569GTF2A1L,LHCGR,STON1-GTF2A1Lc.1648T>A (p.Tyr550Asn)
c.948-10T>A (n.948-10T>A)
c.3441+16469A>T (n.3441+16469A>T)
c.*392T>A (n.*392T>A)
c.1567T>A (p.Tyr523Asn)
c.276+16469A>T (n.276+16469A>T)
c.*220+6075T>A (n.*220+6075T>A)
c.691T>A (p.Tyr231Asn)
c.718T>A (p.Tyr240Asn)
c.1573T>A (p.Tyr525Asn)
c.1387T>A (p.Tyr463Asn)
c.1306T>A (p.Tyr436Asn)
c.1012T>A (p.Tyr338Asn)
c.1393T>A (p.Tyr465Asn)
2g.48688150A>CCA346745574GTF2A1L,LHCGR,STON1-GTF2A1Lc.1647T>G (p.Ile549Met)
c.948-11T>G (n.948-11T>G)
c.3441+16470A>C (n.3441+16470A>C)
c.*391T>G (n.*391T>G)
c.1566T>G (p.Ile522Met)
c.276+16470A>C (n.276+16470A>C)
c.*220+6074T>G (n.*220+6074T>G)
c.690T>G (p.Ile230Met)
c.717T>G (p.Ile239Met)
c.1572T>G (p.Ile524Met)
c.1386T>G (p.Ile462Met)
c.1305T>G (p.Ile435Met)
c.1011T>G (p.Ile337Met)
c.1392T>G (p.Ile464Met)
2g.48688150A>GCA426125164GTF2A1L,LHCGR,STON1-GTF2A1Lc.1647T>C (p.Ile549=)
c.948-11T>C (n.948-11T>C)
c.3441+16470A>G (n.3441+16470A>G)
c.*391T>C (n.*391T>C)
c.1566T>C (p.Ile522=)
c.276+16470A>G (n.276+16470A>G)
c.*220+6074T>C (n.*220+6074T>C)
c.690T>C (p.Ile230=)
c.717T>C (p.Ile239=)
c.1572T>C (p.Ile524=)
c.1386T>C (p.Ile462=)
c.1305T>C (p.Ile435=)
c.1011T>C (p.Ile337=)
c.1392T>C (p.Ile464=)
 gnomAD v4
2g.48688150A>TCA426125165GTF2A1L,LHCGR,STON1-GTF2A1Lc.1647T>A (p.Ile549=)
c.948-11T>A (n.948-11T>A)
c.3441+16470A>T (n.3441+16470A>T)
c.*391T>A (n.*391T>A)
c.1566T>A (p.Ile522=)
c.276+16470A>T (n.276+16470A>T)
c.*220+6074T>A (n.*220+6074T>A)
c.690T>A (p.Ile230=)
c.717T>A (p.Ile239=)
c.1572T>A (p.Ile524=)
c.1386T>A (p.Ile462=)
c.1305T>A (p.Ile435=)
c.1011T>A (p.Ile337=)
c.1392T>A (p.Ile464=)
2g.48688150_48688151insCCAAACACACCCAACACCA2749836835GTF2A1L,LHCGR,STON1-GTF2A1Lc.1646_1647insGTGTTGGGTGTGTTTGG (p.Ile549MetfsTer16)
c.948-12_948-11insGTGTTGGGTGTGTTTGG (n.948-12_948-11insGTGTTGGGTGTGTTTGG)
c.3441+16470_3441+16471insCCAAACACACCCAACAC (n.3441+16470_3441+16471insCCAAACACACCCAACAC)
c.*390_*391insGTGTTGGGTGTGTTTGG (n.*390_*391insGTGTTGGGTGTGTTTGG)
c.1565_1566insGTGTTGGGTGTGTTTGG (p.Ile522MetfsTer16)
c.276+16470_276+16471insCCAAACACACCCAACAC (n.276+16470_276+16471insCCAAACACACCCAACAC)
c.*220+6073_*220+6074insGTGTTGGGTGTGTTTGG (n.*220+6073_*220+6074insGTGTTGGGTGTGTTTGG)
c.689_690insGTGTTGGGTGTGTTTGG (p.Ile230MetfsTer16)
c.716_717insGTGTTGGGTGTGTTTGG (p.Ile239MetfsTer16)
c.1571_1572insGTGTTGGGTGTGTTTGG (p.Ile524MetfsTer16)
c.1385_1386insGTGTTGGGTGTGTTTGG (p.Ile462MetfsTer16)
c.1304_1305insGTGTTGGGTGTGTTTGG (p.Ile435MetfsTer16)
c.1010_1011insGTGTTGGGTGTGTTTGG (p.Ile337MetfsTer16)
c.1391_1392insGTGTTGGGTGTGTTTGG (p.Ile464MetfsTer16)
2g.48688151A>CCA346745579GTF2A1L,LHCGR,STON1-GTF2A1Lc.1646T>G (p.Ile549Ser)
c.948-12T>G (n.948-12T>G)
c.3441+16471A>C (n.3441+16471A>C)
c.*390T>G (n.*390T>G)
c.1565T>G (p.Ile522Ser)
c.276+16471A>C (n.276+16471A>C)
c.*220+6073T>G (n.*220+6073T>G)
c.689T>G (p.Ile230Ser)
c.716T>G (p.Ile239Ser)
c.1571T>G (p.Ile524Ser)
c.1385T>G (p.Ile462Ser)
c.1304T>G (p.Ile435Ser)
c.1010T>G (p.Ile337Ser)
c.1391T>G (p.Ile464Ser)
 COSMIC
2g.48688151A>GCA346745581GTF2A1L,LHCGR,STON1-GTF2A1Lc.1646T>C (p.Ile549Thr)
c.948-12T>C (n.948-12T>C)
c.3441+16471A>G (n.3441+16471A>G)
c.*390T>C (n.*390T>C)
c.1565T>C (p.Ile522Thr)
c.276+16471A>G (n.276+16471A>G)
c.*220+6073T>C (n.*220+6073T>C)
c.689T>C (p.Ile230Thr)
c.716T>C (p.Ile239Thr)
c.1571T>C (p.Ile524Thr)
c.1385T>C (p.Ile462Thr)
c.1304T>C (p.Ile435Thr)
c.1010T>C (p.Ile337Thr)
c.1391T>C (p.Ile464Thr)
2g.48688151A>TCA346745584GTF2A1L,LHCGR,STON1-GTF2A1Lc.1646T>A (p.Ile549Asn)
c.948-12T>A (n.948-12T>A)
c.3441+16471A>T (n.3441+16471A>T)
c.*390T>A (n.*390T>A)
c.1565T>A (p.Ile522Asn)
c.276+16471A>T (n.276+16471A>T)
c.*220+6073T>A (n.*220+6073T>A)
c.689T>A (p.Ile230Asn)
c.716T>A (p.Ile239Asn)
c.1571T>A (p.Ile524Asn)
c.1385T>A (p.Ile462Asn)
c.1304T>A (p.Ile435Asn)
c.1010T>A (p.Ile337Asn)
c.1391T>A (p.Ile464Asn)
2g.48688152T>ACA346745589GTF2A1L,LHCGR,STON1-GTF2A1Lc.1645A>T (p.Ile549Phe)
c.948-13A>T (n.948-13A>T)
c.3441+16472T>A (n.3441+16472T>A)
c.*389A>T (n.*389A>T)
c.1564A>T (p.Ile522Phe)
c.276+16472T>A (n.276+16472T>A)
c.*220+6072A>T (n.*220+6072A>T)
c.688A>T (p.Ile230Phe)
c.715A>T (p.Ile239Phe)
c.1570A>T (p.Ile524Phe)
c.1384A>T (p.Ile462Phe)
c.1303A>T (p.Ile435Phe)
c.1009A>T (p.Ile337Phe)
c.1390A>T (p.Ile464Phe)
2g.48688152T>CCA346745591GTF2A1L,LHCGR,STON1-GTF2A1Lc.1645A>G (p.Ile549Val)
c.948-13A>G (n.948-13A>G)
c.3441+16472T>C (n.3441+16472T>C)
c.*389A>G (n.*389A>G)
c.1564A>G (p.Ile522Val)
c.276+16472T>C (n.276+16472T>C)
c.*220+6072A>G (n.*220+6072A>G)
c.688A>G (p.Ile230Val)
c.715A>G (p.Ile239Val)
c.1570A>G (p.Ile524Val)
c.1384A>G (p.Ile462Val)
c.1303A>G (p.Ile435Val)
c.1009A>G (p.Ile337Val)
c.1390A>G (p.Ile464Val)
2g.48688152T>GCA346745594GTF2A1L,LHCGR,STON1-GTF2A1Lc.1645A>C (p.Ile549Leu)
c.948-13A>C (n.948-13A>C)
c.3441+16472T>G (n.3441+16472T>G)
c.*389A>C (n.*389A>C)
c.1564A>C (p.Ile522Leu)
c.276+16472T>G (n.276+16472T>G)
c.*220+6072A>C (n.*220+6072A>C)
c.688A>C (p.Ile230Leu)
c.715A>C (p.Ile239Leu)
c.1570A>C (p.Ile524Leu)
c.1384A>C (p.Ile462Leu)
c.1303A>C (p.Ile435Leu)
c.1009A>C (p.Ile337Leu)
c.1390A>C (p.Ile464Leu)
2g.48688153T>ACA346745597GTF2A1L,LHCGR,STON1-GTF2A1Lc.1644A>T (p.Lys548Asn)
c.948-14A>T (n.948-14A>T)
c.3441+16473T>A (n.3441+16473T>A)
c.*388A>T (n.*388A>T)
c.1563A>T (p.Lys521Asn)
c.276+16473T>A (n.276+16473T>A)
c.*220+6071A>T (n.*220+6071A>T)
c.687A>T (p.Lys229Asn)
c.714A>T (p.Lys238Asn)
c.1569A>T (p.Lys523Asn)
c.1383A>T (p.Lys461Asn)
c.1302A>T (p.Lys434Asn)
c.1008A>T (p.Lys336Asn)
c.1389A>T (p.Lys463Asn)
2g.48688153T>CCA1653007GTF2A1L,LHCGR,STON1-GTF2A1Lc.1644A>G (p.Lys548=)
c.948-14A>G (n.948-14A>G)
c.3441+16473T>C (n.3441+16473T>C)
c.*388A>G (n.*388A>G)
c.1563A>G (p.Lys521=)
c.276+16473T>C (n.276+16473T>C)
c.*220+6071A>G (n.*220+6071A>G)
c.687A>G (p.Lys229=)
c.714A>G (p.Lys238=)
c.1569A>G (p.Lys523=)
c.1383A>G (p.Lys461=)
c.1302A>G (p.Lys434=)
c.1008A>G (p.Lys336=)
c.1389A>G (p.Lys463=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688153T>GCA346745601GTF2A1L,LHCGR,STON1-GTF2A1Lc.1644A>C (p.Lys548Asn)
c.948-14A>C (n.948-14A>C)
c.3441+16473T>G (n.3441+16473T>G)
c.*388A>C (n.*388A>C)
c.1563A>C (p.Lys521Asn)
c.276+16473T>G (n.276+16473T>G)
c.*220+6071A>C (n.*220+6071A>C)
c.687A>C (p.Lys229Asn)
c.714A>C (p.Lys238Asn)
c.1569A>C (p.Lys523Asn)
c.1383A>C (p.Lys461Asn)
c.1302A>C (p.Lys434Asn)
c.1008A>C (p.Lys336Asn)
c.1389A>C (p.Lys463Asn)
2g.48688153T=CA1248601011GTF2A1L,LHCGR,STON1-GTF2A1Lc.1644A= (p.Lys548=)
c.948-14A= (n.948-14A=)
c.3441+16473T= (n.3441+16473T=)
c.*388A= (n.*388A=)
c.1563A= (p.Lys521=)
c.276+16473T= (n.276+16473T=)
c.*220+6071A= (n.*220+6071A=)
c.687A= (p.Lys229=)
c.714A= (p.Lys238=)
c.1569A= (p.Lys523=)
c.1383A= (p.Lys461=)
c.1302A= (p.Lys434=)
c.1008A= (p.Lys336=)
c.1389A= (p.Lys463=)
2g.48688154T>ACA346745605GTF2A1L,LHCGR,STON1-GTF2A1Lc.1643A>T (p.Lys548Ile)
c.948-15A>T (n.948-15A>T)
c.3441+16474T>A (n.3441+16474T>A)
c.*387A>T (n.*387A>T)
c.1562A>T (p.Lys521Ile)
c.276+16474T>A (n.276+16474T>A)
c.*220+6070A>T (n.*220+6070A>T)
c.686A>T (p.Lys229Ile)
c.713A>T (p.Lys238Ile)
c.1568A>T (p.Lys523Ile)
c.1382A>T (p.Lys461Ile)
c.1301A>T (p.Lys434Ile)
c.1007A>T (p.Lys336Ile)
c.1388A>T (p.Lys463Ile)
2g.48688154T>CCA346745607GTF2A1L,LHCGR,STON1-GTF2A1Lc.1643A>G (p.Lys548Arg)
c.948-15A>G (n.948-15A>G)
c.3441+16474T>C (n.3441+16474T>C)
c.*387A>G (n.*387A>G)
c.1562A>G (p.Lys521Arg)
c.276+16474T>C (n.276+16474T>C)
c.*220+6070A>G (n.*220+6070A>G)
c.686A>G (p.Lys229Arg)
c.713A>G (p.Lys238Arg)
c.1568A>G (p.Lys523Arg)
c.1382A>G (p.Lys461Arg)
c.1301A>G (p.Lys434Arg)
c.1007A>G (p.Lys336Arg)
c.1388A>G (p.Lys463Arg)
2g.48688154T>GCA346745609GTF2A1L,LHCGR,STON1-GTF2A1Lc.1643A>C (p.Lys548Thr)
c.948-15A>C (n.948-15A>C)
c.3441+16474T>G (n.3441+16474T>G)
c.*387A>C (n.*387A>C)
c.1562A>C (p.Lys521Thr)
c.276+16474T>G (n.276+16474T>G)
c.*220+6070A>C (n.*220+6070A>C)
c.686A>C (p.Lys229Thr)
c.713A>C (p.Lys238Thr)
c.1568A>C (p.Lys523Thr)
c.1382A>C (p.Lys461Thr)
c.1301A>C (p.Lys434Thr)
c.1007A>C (p.Lys336Thr)
c.1388A>C (p.Lys463Thr)
2g.48688155T>ACA346745613GTF2A1L,LHCGR,STON1-GTF2A1Lc.1642A>T (p.Lys548Ter)
c.948-16A>T (n.948-16A>T)
c.3441+16475T>A (n.3441+16475T>A)
c.*386A>T (n.*386A>T)
c.1561A>T (p.Lys521Ter)
c.276+16475T>A (n.276+16475T>A)
c.*220+6069A>T (n.*220+6069A>T)
c.685A>T (p.Lys229Ter)
c.712A>T (p.Lys238Ter)
c.1567A>T (p.Lys523Ter)
c.1381A>T (p.Lys461Ter)
c.1300A>T (p.Lys434Ter)
c.1006A>T (p.Lys336Ter)
c.1387A>T (p.Lys463Ter)
2g.48688155T>CCA346745621GTF2A1L,LHCGR,STON1-GTF2A1Lc.1642A>G (p.Lys548Glu)
c.948-16A>G (n.948-16A>G)
c.3441+16475T>C (n.3441+16475T>C)
c.*386A>G (n.*386A>G)
c.1561A>G (p.Lys521Glu)
c.276+16475T>C (n.276+16475T>C)
c.*220+6069A>G (n.*220+6069A>G)
c.685A>G (p.Lys229Glu)
c.712A>G (p.Lys238Glu)
c.1567A>G (p.Lys523Glu)
c.1381A>G (p.Lys461Glu)
c.1300A>G (p.Lys434Glu)
c.1006A>G (p.Lys336Glu)
c.1387A>G (p.Lys463Glu)
2g.48688155T>GCA346745615GTF2A1L,LHCGR,STON1-GTF2A1Lc.1642A>C (p.Lys548Gln)
c.948-16A>C (n.948-16A>C)
c.3441+16475T>G (n.3441+16475T>G)
c.*386A>C (n.*386A>C)
c.1561A>C (p.Lys521Gln)
c.276+16475T>G (n.276+16475T>G)
c.*220+6069A>C (n.*220+6069A>C)
c.685A>C (p.Lys229Gln)
c.712A>C (p.Lys238Gln)
c.1567A>C (p.Lys523Gln)
c.1381A>C (p.Lys461Gln)
c.1300A>C (p.Lys434Gln)
c.1006A>C (p.Lys336Gln)
c.1387A>C (p.Lys463Gln)
2g.48688156A>CCA346745624GTF2A1L,LHCGR,STON1-GTF2A1Lc.1641T>G (p.Ile547Met)
c.948-17T>G (n.948-17T>G)
c.3441+16476A>C (n.3441+16476A>C)
c.*385T>G (n.*385T>G)
c.1560T>G (p.Ile520Met)
c.276+16476A>C (n.276+16476A>C)
c.*220+6068T>G (n.*220+6068T>G)
c.684T>G (p.Ile228Met)
c.711T>G (p.Ile237Met)
c.1566T>G (p.Ile522Met)
c.1380T>G (p.Ile460Met)
c.1299T>G (p.Ile433Met)
c.1005T>G (p.Ile335Met)
c.1386T>G (p.Ile462Met)
2g.48688156A>GCA426125175GTF2A1L,LHCGR,STON1-GTF2A1Lc.1641T>C (p.Ile547=)
c.948-17T>C (n.948-17T>C)
c.3441+16476A>G (n.3441+16476A>G)
c.*385T>C (n.*385T>C)
c.1560T>C (p.Ile520=)
c.276+16476A>G (n.276+16476A>G)
c.*220+6068T>C (n.*220+6068T>C)
c.684T>C (p.Ile228=)
c.711T>C (p.Ile237=)
c.1566T>C (p.Ile522=)
c.1380T>C (p.Ile460=)
c.1299T>C (p.Ile433=)
c.1005T>C (p.Ile335=)
c.1386T>C (p.Ile462=)
2g.48688156A>TCA426125174GTF2A1L,LHCGR,STON1-GTF2A1Lc.1641T>A (p.Ile547=)
c.948-17T>A (n.948-17T>A)
c.3441+16476A>T (n.3441+16476A>T)
c.*385T>A (n.*385T>A)
c.1560T>A (p.Ile520=)
c.276+16476A>T (n.276+16476A>T)
c.*220+6068T>A (n.*220+6068T>A)
c.684T>A (p.Ile228=)
c.711T>A (p.Ile237=)
c.1566T>A (p.Ile522=)
c.1380T>A (p.Ile460=)
c.1299T>A (p.Ile433=)
c.1005T>A (p.Ile335=)
c.1386T>A (p.Ile462=)
2g.48688157A>CCA346745631GTF2A1L,LHCGR,STON1-GTF2A1Lc.1640T>G (p.Ile547Ser)
c.948-18T>G (n.948-18T>G)
c.3441+16477A>C (n.3441+16477A>C)
c.*384T>G (n.*384T>G)
c.1559T>G (p.Ile520Ser)
c.276+16477A>C (n.276+16477A>C)
c.*220+6067T>G (n.*220+6067T>G)
c.683T>G (p.Ile228Ser)
c.710T>G (p.Ile237Ser)
c.1565T>G (p.Ile522Ser)
c.1379T>G (p.Ile460Ser)
c.1298T>G (p.Ile433Ser)
c.1004T>G (p.Ile335Ser)
c.1385T>G (p.Ile462Ser)
2g.48688157A>GCA346745640GTF2A1L,LHCGR,STON1-GTF2A1Lc.1640T>C (p.Ile547Thr)
c.948-18T>C (n.948-18T>C)
c.3441+16477A>G (n.3441+16477A>G)
c.*384T>C (n.*384T>C)
c.1559T>C (p.Ile520Thr)
c.276+16477A>G (n.276+16477A>G)
c.*220+6067T>C (n.*220+6067T>C)
c.683T>C (p.Ile228Thr)
c.710T>C (p.Ile237Thr)
c.1565T>C (p.Ile522Thr)
c.1379T>C (p.Ile460Thr)
c.1298T>C (p.Ile433Thr)
c.1004T>C (p.Ile335Thr)
c.1385T>C (p.Ile462Thr)
2g.48688157A>TCA346745642GTF2A1L,LHCGR,STON1-GTF2A1Lc.1640T>A (p.Ile547Asn)
c.948-18T>A (n.948-18T>A)
c.3441+16477A>T (n.3441+16477A>T)
c.*384T>A (n.*384T>A)
c.1559T>A (p.Ile520Asn)
c.276+16477A>T (n.276+16477A>T)
c.*220+6067T>A (n.*220+6067T>A)
c.683T>A (p.Ile228Asn)
c.710T>A (p.Ile237Asn)
c.1565T>A (p.Ile522Asn)
c.1379T>A (p.Ile460Asn)
c.1298T>A (p.Ile433Asn)
c.1004T>A (p.Ile335Asn)
c.1385T>A (p.Ile462Asn)
2g.48688158T>ACA346745647GTF2A1L,LHCGR,STON1-GTF2A1Lc.1639A>T (p.Ile547Phe)
c.948-19A>T (n.948-19A>T)
c.3441+16478T>A (n.3441+16478T>A)
c.*383A>T (n.*383A>T)
c.1558A>T (p.Ile520Phe)
c.276+16478T>A (n.276+16478T>A)
c.*220+6066A>T (n.*220+6066A>T)
c.682A>T (p.Ile228Phe)
c.709A>T (p.Ile237Phe)
c.1564A>T (p.Ile522Phe)
c.1378A>T (p.Ile460Phe)
c.1297A>T (p.Ile433Phe)
c.1003A>T (p.Ile335Phe)
c.1384A>T (p.Ile462Phe)
2g.48688158T>CCA346745648GTF2A1L,LHCGR,STON1-GTF2A1Lc.1639A>G (p.Ile547Val)
c.948-19A>G (n.948-19A>G)
c.3441+16478T>C (n.3441+16478T>C)
c.*383A>G (n.*383A>G)
c.1558A>G (p.Ile520Val)
c.276+16478T>C (n.276+16478T>C)
c.*220+6066A>G (n.*220+6066A>G)
c.682A>G (p.Ile228Val)
c.709A>G (p.Ile237Val)
c.1564A>G (p.Ile522Val)
c.1378A>G (p.Ile460Val)
c.1297A>G (p.Ile433Val)
c.1003A>G (p.Ile335Val)
c.1384A>G (p.Ile462Val)
2g.48688158T>GCA346745650GTF2A1L,LHCGR,STON1-GTF2A1Lc.1639A>C (p.Ile547Leu)
c.948-19A>C (n.948-19A>C)
c.3441+16478T>G (n.3441+16478T>G)
c.*383A>C (n.*383A>C)
c.1558A>C (p.Ile520Leu)
c.276+16478T>G (n.276+16478T>G)
c.*220+6066A>C (n.*220+6066A>C)
c.682A>C (p.Ile228Leu)
c.709A>C (p.Ile237Leu)
c.1564A>C (p.Ile522Leu)
c.1378A>C (p.Ile460Leu)
c.1297A>C (p.Ile433Leu)
c.1003A>C (p.Ile335Leu)
c.1384A>C (p.Ile462Leu)
2g.48688159G>ACA1653008GTF2A1L,LHCGR,STON1-GTF2A1Lc.1638C>T (p.Tyr546=)
c.948-20C>T (n.948-20C>T)
c.3441+16479G>A (n.3441+16479G>A)
c.*382C>T (n.*382C>T)
c.1557C>T (p.Tyr519=)
c.276+16479G>A (n.276+16479G>A)
c.*220+6065C>T (n.*220+6065C>T)
c.681C>T (p.Tyr227=)
c.708C>T (p.Tyr236=)
c.1563C>T (p.Tyr521=)
c.1377C>T (p.Tyr459=)
c.1296C>T (p.Tyr432=)
c.1002C>T (p.Tyr334=)
c.1383C>T (p.Tyr461=)
 dbSNP ExAC gnomAD v4
2g.48688159G>CCA346745659GTF2A1L,LHCGR,STON1-GTF2A1Lc.1638C>G (p.Tyr546Ter)
c.948-20C>G (n.948-20C>G)
c.3441+16479G>C (n.3441+16479G>C)
c.*382C>G (n.*382C>G)
c.1557C>G (p.Tyr519Ter)
c.276+16479G>C (n.276+16479G>C)
c.*220+6065C>G (n.*220+6065C>G)
c.681C>G (p.Tyr227Ter)
c.708C>G (p.Tyr236Ter)
c.1563C>G (p.Tyr521Ter)
c.1377C>G (p.Tyr459Ter)
c.1296C>G (p.Tyr432Ter)
c.1002C>G (p.Tyr334Ter)
c.1383C>G (p.Tyr461Ter)
2g.48688159G=CA1248601012GTF2A1L,LHCGR,STON1-GTF2A1Lc.1638C= (p.Tyr546=)
c.948-20C= (n.948-20C=)
c.3441+16479G= (n.3441+16479G=)
c.*382C= (n.*382C=)
c.1557C= (p.Tyr519=)
c.276+16479G= (n.276+16479G=)
c.*220+6065C= (n.*220+6065C=)
c.681C= (p.Tyr227=)
c.708C= (p.Tyr236=)
c.1563C= (p.Tyr521=)
c.1377C= (p.Tyr459=)
c.1296C= (p.Tyr432=)
c.1002C= (p.Tyr334=)
c.1383C= (p.Tyr461=)
2g.48688159G>TCA346745663GTF2A1L,LHCGR,STON1-GTF2A1Lc.1638C>A (p.Tyr546Ter)
c.948-20C>A (n.948-20C>A)
c.3441+16479G>T (n.3441+16479G>T)
c.*382C>A (n.*382C>A)
c.1557C>A (p.Tyr519Ter)
c.276+16479G>T (n.276+16479G>T)
c.*220+6065C>A (n.*220+6065C>A)
c.681C>A (p.Tyr227Ter)
c.708C>A (p.Tyr236Ter)
c.1563C>A (p.Tyr521Ter)
c.1377C>A (p.Tyr459Ter)
c.1296C>A (p.Tyr432Ter)
c.1002C>A (p.Tyr334Ter)
c.1383C>A (p.Tyr461Ter)
2g.48688160T>ACA346745671GTF2A1L,LHCGR,STON1-GTF2A1Lc.1637A>T (p.Tyr546Phe)
c.948-21A>T (n.948-21A>T)
c.3441+16480T>A (n.3441+16480T>A)
c.*381A>T (n.*381A>T)
c.1556A>T (p.Tyr519Phe)
c.276+16480T>A (n.276+16480T>A)
c.*220+6064A>T (n.*220+6064A>T)
c.680A>T (p.Tyr227Phe)
c.707A>T (p.Tyr236Phe)
c.1562A>T (p.Tyr521Phe)
c.1376A>T (p.Tyr459Phe)
c.1295A>T (p.Tyr432Phe)
c.1001A>T (p.Tyr334Phe)
c.1382A>T (p.Tyr461Phe)
2g.48688160T>CCA346745668GTF2A1L,LHCGR,STON1-GTF2A1Lc.1637A>G (p.Tyr546Cys)
c.948-21A>G (n.948-21A>G)
c.3441+16480T>C (n.3441+16480T>C)
c.*381A>G (n.*381A>G)
c.1556A>G (p.Tyr519Cys)
c.276+16480T>C (n.276+16480T>C)
c.*220+6064A>G (n.*220+6064A>G)
c.680A>G (p.Tyr227Cys)
c.707A>G (p.Tyr236Cys)
c.1562A>G (p.Tyr521Cys)
c.1376A>G (p.Tyr459Cys)
c.1295A>G (p.Tyr432Cys)
c.1001A>G (p.Tyr334Cys)
c.1382A>G (p.Tyr461Cys)
2g.48688160T>GCA346745666GTF2A1L,LHCGR,STON1-GTF2A1Lc.1637A>C (p.Tyr546Ser)
c.948-21A>C (n.948-21A>C)
c.3441+16480T>G (n.3441+16480T>G)
c.*381A>C (n.*381A>C)
c.1556A>C (p.Tyr519Ser)
c.276+16480T>G (n.276+16480T>G)
c.*220+6064A>C (n.*220+6064A>C)
c.680A>C (p.Tyr227Ser)
c.707A>C (p.Tyr236Ser)
c.1562A>C (p.Tyr521Ser)
c.1376A>C (p.Tyr459Ser)
c.1295A>C (p.Tyr432Ser)
c.1001A>C (p.Tyr334Ser)
c.1382A>C (p.Tyr461Ser)
2g.48688161A>CCA346745675GTF2A1L,LHCGR,STON1-GTF2A1Lc.1636T>G (p.Tyr546Asp)
c.948-22T>G (n.948-22T>G)
c.3441+16481A>C (n.3441+16481A>C)
c.*380T>G (n.*380T>G)
c.1555T>G (p.Tyr519Asp)
c.276+16481A>C (n.276+16481A>C)
c.*220+6063T>G (n.*220+6063T>G)
c.679T>G (p.Tyr227Asp)
c.706T>G (p.Tyr236Asp)
c.1561T>G (p.Tyr521Asp)
c.1375T>G (p.Tyr459Asp)
c.1294T>G (p.Tyr432Asp)
c.1000T>G (p.Tyr334Asp)
c.1381T>G (p.Tyr461Asp)
2g.48688161A>GCA346745678GTF2A1L,LHCGR,STON1-GTF2A1Lc.1636T>C (p.Tyr546His)
c.948-22T>C (n.948-22T>C)
c.3441+16481A>G (n.3441+16481A>G)
c.*380T>C (n.*380T>C)
c.1555T>C (p.Tyr519His)
c.276+16481A>G (n.276+16481A>G)
c.*220+6063T>C (n.*220+6063T>C)
c.679T>C (p.Tyr227His)
c.706T>C (p.Tyr236His)
c.1561T>C (p.Tyr521His)
c.1375T>C (p.Tyr459His)
c.1294T>C (p.Tyr432His)
c.1000T>C (p.Tyr334His)
c.1381T>C (p.Tyr461His)
 gnomAD v4
2g.48688161A>TCA346745680GTF2A1L,LHCGR,STON1-GTF2A1Lc.1636T>A (p.Tyr546Asn)
c.948-22T>A (n.948-22T>A)
c.3441+16481A>T (n.3441+16481A>T)
c.*380T>A (n.*380T>A)
c.1555T>A (p.Tyr519Asn)
c.276+16481A>T (n.276+16481A>T)
c.*220+6063T>A (n.*220+6063T>A)
c.679T>A (p.Tyr227Asn)
c.706T>A (p.Tyr236Asn)
c.1561T>A (p.Tyr521Asn)
c.1375T>A (p.Tyr459Asn)
c.1294T>A (p.Tyr432Asn)
c.1000T>A (p.Tyr334Asn)
c.1381T>A (p.Tyr461Asn)
2g.48688162G>ACA426125189GTF2A1L,LHCGR,STON1-GTF2A1Lc.1635C>T (p.Cys545=)
c.948-23C>T (n.948-23C>T)
c.3441+16482G>A (n.3441+16482G>A)
c.*379C>T (n.*379C>T)
c.1554C>T (p.Cys518=)
c.276+16482G>A (n.276+16482G>A)
c.*220+6062C>T (n.*220+6062C>T)
c.678C>T (p.Cys226=)
c.705C>T (p.Cys235=)
c.1560C>T (p.Cys520=)
c.1374C>T (p.Cys458=)
c.1293C>T (p.Cys431=)
c.999C>T (p.Cys333=)
c.1380C>T (p.Cys460=)
2g.48688162G>CCA346745684GTF2A1L,LHCGR,STON1-GTF2A1Lc.1635C>G (p.Cys545Trp)
c.948-23C>G (n.948-23C>G)
c.3441+16482G>C (n.3441+16482G>C)
c.*379C>G (n.*379C>G)
c.1554C>G (p.Cys518Trp)
c.276+16482G>C (n.276+16482G>C)
c.*220+6062C>G (n.*220+6062C>G)
c.678C>G (p.Cys226Trp)
c.705C>G (p.Cys235Trp)
c.1560C>G (p.Cys520Trp)
c.1374C>G (p.Cys458Trp)
c.1293C>G (p.Cys431Trp)
c.999C>G (p.Cys333Trp)
c.1380C>G (p.Cys460Trp)
 gnomAD v4
2g.48688162G=CA1248601013GTF2A1L,LHCGR,STON1-GTF2A1Lc.1635C= (p.Cys545=)
c.948-23C= (n.948-23C=)
c.3441+16482G= (n.3441+16482G=)
c.*379C= (n.*379C=)
c.1554C= (p.Cys518=)
c.276+16482G= (n.276+16482G=)
c.*220+6062C= (n.*220+6062C=)
c.678C= (p.Cys226=)
c.705C= (p.Cys235=)
c.1560C= (p.Cys520=)
c.1374C= (p.Cys458=)
c.1293C= (p.Cys431=)
c.999C= (p.Cys333=)
c.1380C= (p.Cys460=)
2g.48688162G>TCA250647GTF2A1L,LHCGR,STON1-GTF2A1Lc.1635C>A (p.Cys545Ter)
c.948-23C>A (n.948-23C>A)
c.3441+16482G>T (n.3441+16482G>T)
c.*379C>A (n.*379C>A)
c.1554C>A (p.Cys518Ter)
c.276+16482G>T (n.276+16482G>T)
c.*220+6062C>A (n.*220+6062C>A)
c.678C>A (p.Cys226Ter)
c.705C>A (p.Cys235Ter)
c.1560C>A (p.Cys520Ter)
c.1374C>A (p.Cys458Ter)
c.1293C>A (p.Cys431Ter)
c.999C>A (p.Cys333Ter)
c.1380C>A (p.Cys460Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688163C>ACA346745689GTF2A1L,LHCGR,STON1-GTF2A1Lc.1634G>T (p.Cys545Phe)
c.948-24G>T (n.948-24G>T)
c.3441+16483C>A (n.3441+16483C>A)
c.*378G>T (n.*378G>T)
c.1553G>T (p.Cys518Phe)
c.276+16483C>A (n.276+16483C>A)
c.*220+6061G>T (n.*220+6061G>T)
c.677G>T (p.Cys226Phe)
c.704G>T (p.Cys235Phe)
c.1559G>T (p.Cys520Phe)
c.1373G>T (p.Cys458Phe)
c.1292G>T (p.Cys431Phe)
c.998G>T (p.Cys333Phe)
c.1379G>T (p.Cys460Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688163C=CA1248601014GTF2A1L,LHCGR,STON1-GTF2A1Lc.1634G= (p.Cys545=)
c.948-24G= (n.948-24G=)
c.3441+16483C= (n.3441+16483C=)
c.*378G= (n.*378G=)
c.1553G= (p.Cys518=)
c.276+16483C= (n.276+16483C=)
c.*220+6061G= (n.*220+6061G=)
c.677G= (p.Cys226=)
c.704G= (p.Cys235=)
c.1559G= (p.Cys520=)
c.1373G= (p.Cys458=)
c.1292G= (p.Cys431=)
c.998G= (p.Cys333=)
c.1379G= (p.Cys460=)
2g.48688163C>GCA346745688GTF2A1L,LHCGR,STON1-GTF2A1Lc.1634G>C (p.Cys545Ser)
c.948-24G>C (n.948-24G>C)
c.3441+16483C>G (n.3441+16483C>G)
c.*378G>C (n.*378G>C)
c.1553G>C (p.Cys518Ser)
c.276+16483C>G (n.276+16483C>G)
c.*220+6061G>C (n.*220+6061G>C)
c.677G>C (p.Cys226Ser)
c.704G>C (p.Cys235Ser)
c.1559G>C (p.Cys520Ser)
c.1373G>C (p.Cys458Ser)
c.1292G>C (p.Cys431Ser)
c.998G>C (p.Cys333Ser)
c.1379G>C (p.Cys460Ser)
 gnomAD v4
2g.48688163C>TCA346745687GTF2A1L,LHCGR,STON1-GTF2A1Lc.1634G>A (p.Cys545Tyr)
c.948-24G>A (n.948-24G>A)
c.3441+16483C>T (n.3441+16483C>T)
c.*378G>A (n.*378G>A)
c.1553G>A (p.Cys518Tyr)
c.276+16483C>T (n.276+16483C>T)
c.*220+6061G>A (n.*220+6061G>A)
c.677G>A (p.Cys226Tyr)
c.704G>A (p.Cys235Tyr)
c.1559G>A (p.Cys520Tyr)
c.1373G>A (p.Cys458Tyr)
c.1292G>A (p.Cys431Tyr)
c.998G>A (p.Cys333Tyr)
c.1379G>A (p.Cys460Tyr)
 dbSNP gnomAD v3 gnomAD v4
2g.48688164A>CCA346745691GTF2A1L,LHCGR,STON1-GTF2A1Lc.1633T>G (p.Cys545Gly)
c.948-25T>G (n.948-25T>G)
c.3441+16484A>C (n.3441+16484A>C)
c.*377T>G (n.*377T>G)
c.1552T>G (p.Cys518Gly)
c.276+16484A>C (n.276+16484A>C)
c.*220+6060T>G (n.*220+6060T>G)
c.676T>G (p.Cys226Gly)
c.703T>G (p.Cys235Gly)
c.1558T>G (p.Cys520Gly)
c.1372T>G (p.Cys458Gly)
c.1291T>G (p.Cys431Gly)
c.997T>G (p.Cys333Gly)
c.1378T>G (p.Cys460Gly)
2g.48688164A>GCA346745693GTF2A1L,LHCGR,STON1-GTF2A1Lc.1633T>C (p.Cys545Arg)
c.948-25T>C (n.948-25T>C)
c.3441+16484A>G (n.3441+16484A>G)
c.*377T>C (n.*377T>C)
c.1552T>C (p.Cys518Arg)
c.276+16484A>G (n.276+16484A>G)
c.*220+6060T>C (n.*220+6060T>C)
c.676T>C (p.Cys226Arg)
c.703T>C (p.Cys235Arg)
c.1558T>C (p.Cys520Arg)
c.1372T>C (p.Cys458Arg)
c.1291T>C (p.Cys431Arg)
c.997T>C (p.Cys333Arg)
c.1378T>C (p.Cys460Arg)
2g.48688164A>TCA346745694GTF2A1L,LHCGR,STON1-GTF2A1Lc.1633T>A (p.Cys545Ser)
c.948-25T>A (n.948-25T>A)
c.3441+16484A>T (n.3441+16484A>T)
c.*377T>A (n.*377T>A)
c.1552T>A (p.Cys518Ser)
c.276+16484A>T (n.276+16484A>T)
c.*220+6060T>A (n.*220+6060T>A)
c.676T>A (p.Cys226Ser)
c.703T>A (p.Cys235Ser)
c.1558T>A (p.Cys520Ser)
c.1372T>A (p.Cys458Ser)
c.1291T>A (p.Cys431Ser)
c.997T>A (p.Cys333Ser)
c.1378T>A (p.Cys460Ser)
2g.48688165A>CCA426125196GTF2A1L,LHCGR,STON1-GTF2A1Lc.1632T>G (p.Ala544=)
c.948-26T>G (n.948-26T>G)
c.3441+16485A>C (n.3441+16485A>C)
c.*376T>G (n.*376T>G)
c.1551T>G (p.Ala517=)
c.276+16485A>C (n.276+16485A>C)
c.*220+6059T>G (n.*220+6059T>G)
c.675T>G (p.Ala225=)
c.702T>G (p.Ala234=)
c.1557T>G (p.Ala519=)
c.1371T>G (p.Ala457=)
c.1290T>G (p.Ala430=)
c.996T>G (p.Ala332=)
c.1377T>G (p.Ala459=)
2g.48688165A>GCA426125198GTF2A1L,LHCGR,STON1-GTF2A1Lc.1632T>C (p.Ala544=)
c.948-26T>C (n.948-26T>C)
c.3441+16485A>G (n.3441+16485A>G)
c.*376T>C (n.*376T>C)
c.1551T>C (p.Ala517=)
c.276+16485A>G (n.276+16485A>G)
c.*220+6059T>C (n.*220+6059T>C)
c.675T>C (p.Ala225=)
c.702T>C (p.Ala234=)
c.1557T>C (p.Ala519=)
c.1371T>C (p.Ala457=)
c.1290T>C (p.Ala430=)
c.996T>C (p.Ala332=)
c.1377T>C (p.Ala459=)
2g.48688165A>TCA426125199GTF2A1L,LHCGR,STON1-GTF2A1Lc.1632T>A (p.Ala544=)
c.948-26T>A (n.948-26T>A)
c.3441+16485A>T (n.3441+16485A>T)
c.*376T>A (n.*376T>A)
c.1551T>A (p.Ala517=)
c.276+16485A>T (n.276+16485A>T)
c.*220+6059T>A (n.*220+6059T>A)
c.675T>A (p.Ala225=)
c.702T>A (p.Ala234=)
c.1557T>A (p.Ala519=)
c.1371T>A (p.Ala457=)
c.1290T>A (p.Ala430=)
c.996T>A (p.Ala332=)
c.1377T>A (p.Ala459=)
2g.48688166G>ACA346745698GTF2A1L,LHCGR,STON1-GTF2A1Lc.1631C>T (p.Ala544Val)
c.948-27C>T (n.948-27C>T)
c.3441+16486G>A (n.3441+16486G>A)
c.*375C>T (n.*375C>T)
c.1550C>T (p.Ala517Val)
c.276+16486G>A (n.276+16486G>A)
c.*220+6058C>T (n.*220+6058C>T)
c.674C>T (p.Ala225Val)
c.701C>T (p.Ala234Val)
c.1556C>T (p.Ala519Val)
c.1370C>T (p.Ala457Val)
c.1289C>T (p.Ala430Val)
c.995C>T (p.Ala332Val)
c.1376C>T (p.Ala459Val)
2g.48688166G>CCA346745702GTF2A1L,LHCGR,STON1-GTF2A1Lc.1631C>G (p.Ala544Gly)
c.948-27C>G (n.948-27C>G)
c.3441+16486G>C (n.3441+16486G>C)
c.*375C>G (n.*375C>G)
c.1550C>G (p.Ala517Gly)
c.276+16486G>C (n.276+16486G>C)
c.*220+6058C>G (n.*220+6058C>G)
c.674C>G (p.Ala225Gly)
c.701C>G (p.Ala234Gly)
c.1556C>G (p.Ala519Gly)
c.1370C>G (p.Ala457Gly)
c.1289C>G (p.Ala430Gly)
c.995C>G (p.Ala332Gly)
c.1376C>G (p.Ala459Gly)
2g.48688166G>TCA346745704GTF2A1L,LHCGR,STON1-GTF2A1Lc.1631C>A (p.Ala544Asp)
c.948-27C>A (n.948-27C>A)
c.3441+16486G>T (n.3441+16486G>T)
c.*375C>A (n.*375C>A)
c.1550C>A (p.Ala517Asp)
c.276+16486G>T (n.276+16486G>T)
c.*220+6058C>A (n.*220+6058C>A)
c.674C>A (p.Ala225Asp)
c.701C>A (p.Ala234Asp)
c.1556C>A (p.Ala519Asp)
c.1370C>A (p.Ala457Asp)
c.1289C>A (p.Ala430Asp)
c.995C>A (p.Ala332Asp)
c.1376C>A (p.Ala459Asp)
 gnomAD v4
2g.48688167C>ACA346745709GTF2A1L,LHCGR,STON1-GTF2A1Lc.1630G>T (p.Ala544Ser)
c.948-28G>T (n.948-28G>T)
c.3441+16487C>A (n.3441+16487C>A)
c.*374G>T (n.*374G>T)
c.1549G>T (p.Ala517Ser)
c.276+16487C>A (n.276+16487C>A)
c.*220+6057G>T (n.*220+6057G>T)
c.673G>T (p.Ala225Ser)
c.700G>T (p.Ala234Ser)
c.1555G>T (p.Ala519Ser)
c.1369G>T (p.Ala457Ser)
c.1288G>T (p.Ala430Ser)
c.994G>T (p.Ala332Ser)
c.1375G>T (p.Ala459Ser)
2g.48688167C>GCA346745717GTF2A1L,LHCGR,STON1-GTF2A1Lc.1630G>C (p.Ala544Pro)
c.948-28G>C (n.948-28G>C)
c.3441+16487C>G (n.3441+16487C>G)
c.*374G>C (n.*374G>C)
c.1549G>C (p.Ala517Pro)
c.276+16487C>G (n.276+16487C>G)
c.*220+6057G>C (n.*220+6057G>C)
c.673G>C (p.Ala225Pro)
c.700G>C (p.Ala234Pro)
c.1555G>C (p.Ala519Pro)
c.1369G>C (p.Ala457Pro)
c.1288G>C (p.Ala430Pro)
c.994G>C (p.Ala332Pro)
c.1375G>C (p.Ala459Pro)
2g.48688167C>TCA346745712GTF2A1L,LHCGR,STON1-GTF2A1Lc.1630G>A (p.Ala544Thr)
c.948-28G>A (n.948-28G>A)
c.3441+16487C>T (n.3441+16487C>T)
c.*374G>A (n.*374G>A)
c.1549G>A (p.Ala517Thr)
c.276+16487C>T (n.276+16487C>T)
c.*220+6057G>A (n.*220+6057G>A)
c.673G>A (p.Ala225Thr)
c.700G>A (p.Ala234Thr)
c.1555G>A (p.Ala519Thr)
c.1369G>A (p.Ala457Thr)
c.1288G>A (p.Ala430Thr)
c.994G>A (p.Ala332Thr)
c.1375G>A (p.Ala459Thr)
2g.48688168A>CCA346745720GTF2A1L,LHCGR,STON1-GTF2A1Lc.1629T>G (p.Cys543Trp)
c.948-29T>G (n.948-29T>G)
c.3441+16488A>C (n.3441+16488A>C)
c.*373T>G (n.*373T>G)
c.1548T>G (p.Cys516Trp)
c.276+16488A>C (n.276+16488A>C)
c.*220+6056T>G (n.*220+6056T>G)
c.672T>G (p.Cys224Trp)
c.699T>G (p.Cys233Trp)
c.1554T>G (p.Cys518Trp)
c.1368T>G (p.Cys456Trp)
c.1287T>G (p.Cys429Trp)
c.993T>G (p.Cys331Trp)
c.1374T>G (p.Cys458Trp)
2g.48688168A>GCA426125202GTF2A1L,LHCGR,STON1-GTF2A1Lc.1629T>C (p.Cys543=)
c.948-29T>C (n.948-29T>C)
c.3441+16488A>G (n.3441+16488A>G)
c.*373T>C (n.*373T>C)
c.1548T>C (p.Cys516=)
c.276+16488A>G (n.276+16488A>G)
c.*220+6056T>C (n.*220+6056T>C)
c.672T>C (p.Cys224=)
c.699T>C (p.Cys233=)
c.1554T>C (p.Cys518=)
c.1368T>C (p.Cys456=)
c.1287T>C (p.Cys429=)
c.993T>C (p.Cys331=)
c.1374T>C (p.Cys458=)
2g.48688168A>TCA346745721GTF2A1L,LHCGR,STON1-GTF2A1Lc.1629T>A (p.Cys543Ter)
c.948-29T>A (n.948-29T>A)
c.3441+16488A>T (n.3441+16488A>T)
c.*373T>A (n.*373T>A)
c.1548T>A (p.Cys516Ter)
c.276+16488A>T (n.276+16488A>T)
c.*220+6056T>A (n.*220+6056T>A)
c.672T>A (p.Cys224Ter)
c.699T>A (p.Cys233Ter)
c.1554T>A (p.Cys518Ter)
c.1368T>A (p.Cys456Ter)
c.1287T>A (p.Cys429Ter)
c.993T>A (p.Cys331Ter)
c.1374T>A (p.Cys458Ter)
2g.48688169C>ACA346745724GTF2A1L,LHCGR,STON1-GTF2A1Lc.1628G>T (p.Cys543Phe)
c.948-30G>T (n.948-30G>T)
c.3441+16489C>A (n.3441+16489C>A)
c.*372G>T (n.*372G>T)
c.1547G>T (p.Cys516Phe)
c.276+16489C>A (n.276+16489C>A)
c.*220+6055G>T (n.*220+6055G>T)
c.671G>T (p.Cys224Phe)
c.698G>T (p.Cys233Phe)
c.1553G>T (p.Cys518Phe)
c.1367G>T (p.Cys456Phe)
c.1286G>T (p.Cys429Phe)
c.992G>T (p.Cys331Phe)
c.1373G>T (p.Cys458Phe)
 dbSNP
2g.48688169C=CA1248601015GTF2A1L,LHCGR,STON1-GTF2A1Lc.1628G= (p.Cys543=)
c.948-30G= (n.948-30G=)
c.3441+16489C= (n.3441+16489C=)
c.*372G= (n.*372G=)
c.1547G= (p.Cys516=)
c.276+16489C= (n.276+16489C=)
c.*220+6055G= (n.*220+6055G=)
c.671G= (p.Cys224=)
c.698G= (p.Cys233=)
c.1553G= (p.Cys518=)
c.1367G= (p.Cys456=)
c.1286G= (p.Cys429=)
c.992G= (p.Cys331=)
c.1373G= (p.Cys458=)
2g.48688169C>GCA346745727GTF2A1L,LHCGR,STON1-GTF2A1Lc.1628G>C (p.Cys543Ser)
c.948-30G>C (n.948-30G>C)
c.3441+16489C>G (n.3441+16489C>G)
c.*372G>C (n.*372G>C)
c.1547G>C (p.Cys516Ser)
c.276+16489C>G (n.276+16489C>G)
c.*220+6055G>C (n.*220+6055G>C)
c.671G>C (p.Cys224Ser)
c.698G>C (p.Cys233Ser)
c.1553G>C (p.Cys518Ser)
c.1367G>C (p.Cys456Ser)
c.1286G>C (p.Cys429Ser)
c.992G>C (p.Cys331Ser)
c.1373G>C (p.Cys458Ser)
2g.48688169C>TCA1653009GTF2A1L,LHCGR,STON1-GTF2A1Lc.1628G>A (p.Cys543Tyr)
c.948-30G>A (n.948-30G>A)
c.3441+16489C>T (n.3441+16489C>T)
c.*372G>A (n.*372G>A)
c.1547G>A (p.Cys516Tyr)
c.276+16489C>T (n.276+16489C>T)
c.*220+6055G>A (n.*220+6055G>A)
c.671G>A (p.Cys224Tyr)
c.698G>A (p.Cys233Tyr)
c.1553G>A (p.Cys518Tyr)
c.1367G>A (p.Cys456Tyr)
c.1286G>A (p.Cys429Tyr)
c.992G>A (p.Cys331Tyr)
c.1373G>A (p.Cys458Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688170A=CA1248601016GTF2A1L,LHCGR,STON1-GTF2A1Lc.1627T= (p.Cys543=)
c.948-31T= (n.948-31T=)
c.3441+16490A= (n.3441+16490A=)
c.*371T= (n.*371T=)
c.1546T= (p.Cys516=)
c.276+16490A= (n.276+16490A=)
c.*220+6054T= (n.*220+6054T=)
c.670T= (p.Cys224=)
c.697T= (p.Cys233=)
c.1552T= (p.Cys518=)
c.1366T= (p.Cys456=)
c.1285T= (p.Cys429=)
c.991T= (p.Cys331=)
c.1372T= (p.Cys458=)
2g.48688170A>CCA346745735GTF2A1L,LHCGR,STON1-GTF2A1Lc.1627T>G (p.Cys543Gly)
c.948-31T>G (n.948-31T>G)
c.3441+16490A>C (n.3441+16490A>C)
c.*371T>G (n.*371T>G)
c.1546T>G (p.Cys516Gly)
c.276+16490A>C (n.276+16490A>C)
c.*220+6054T>G (n.*220+6054T>G)
c.670T>G (p.Cys224Gly)
c.697T>G (p.Cys233Gly)
c.1552T>G (p.Cys518Gly)
c.1366T>G (p.Cys456Gly)
c.1285T>G (p.Cys429Gly)
c.991T>G (p.Cys331Gly)
c.1372T>G (p.Cys458Gly)
2g.48688170A>GCA250646GTF2A1L,LHCGR,STON1-GTF2A1Lc.1627T>C (p.Cys543Arg)
c.948-31T>C (n.948-31T>C)
c.3441+16490A>G (n.3441+16490A>G)
c.*371T>C (n.*371T>C)
c.1546T>C (p.Cys516Arg)
c.276+16490A>G (n.276+16490A>G)
c.*220+6054T>C (n.*220+6054T>C)
c.670T>C (p.Cys224Arg)
c.697T>C (p.Cys233Arg)
c.1552T>C (p.Cys518Arg)
c.1366T>C (p.Cys456Arg)
c.1285T>C (p.Cys429Arg)
c.991T>C (p.Cys331Arg)
c.1372T>C (p.Cys458Arg)
 ClinVar dbSNP
2g.48688170A>TCA346745740GTF2A1L,LHCGR,STON1-GTF2A1Lc.1627T>A (p.Cys543Ser)
c.948-31T>A (n.948-31T>A)
c.3441+16490A>T (n.3441+16490A>T)
c.*371T>A (n.*371T>A)
c.1546T>A (p.Cys516Ser)
c.276+16490A>T (n.276+16490A>T)
c.*220+6054T>A (n.*220+6054T>A)
c.670T>A (p.Cys224Ser)
c.697T>A (p.Cys233Ser)
c.1552T>A (p.Cys518Ser)
c.1366T>A (p.Cys456Ser)
c.1285T>A (p.Cys429Ser)
c.991T>A (p.Cys331Ser)
c.1372T>A (p.Cys458Ser)
2g.48688171A=CA1248601017GTF2A1L,LHCGR,STON1-GTF2A1Lc.1626T= (p.Ile542=)
c.948-32T= (n.948-32T=)
c.3441+16491A= (n.3441+16491A=)
c.*370T= (n.*370T=)
c.1545T= (p.Ile515=)
c.276+16491A= (n.276+16491A=)
c.*220+6053T= (n.*220+6053T=)
c.669T= (p.Ile223=)
c.696T= (p.Ile232=)
c.1551T= (p.Ile517=)
c.1365T= (p.Ile455=)
c.1284T= (p.Ile428=)
c.990T= (p.Ile330=)
c.1371T= (p.Ile457=)
2g.48688171A>CCA346745743GTF2A1L,LHCGR,STON1-GTF2A1Lc.1626T>G (p.Ile542Met)
c.948-32T>G (n.948-32T>G)
c.3441+16491A>C (n.3441+16491A>C)
c.*370T>G (n.*370T>G)
c.1545T>G (p.Ile515Met)
c.276+16491A>C (n.276+16491A>C)
c.*220+6053T>G (n.*220+6053T>G)
c.669T>G (p.Ile223Met)
c.696T>G (p.Ile232Met)
c.1551T>G (p.Ile517Met)
c.1365T>G (p.Ile455Met)
c.1284T>G (p.Ile428Met)
c.990T>G (p.Ile330Met)
c.1371T>G (p.Ile457Met)
 dbSNP gnomAD v2
2g.48688171A>GCA426125205GTF2A1L,LHCGR,STON1-GTF2A1Lc.1626T>C (p.Ile542=)
c.948-32T>C (n.948-32T>C)
c.3441+16491A>G (n.3441+16491A>G)
c.*370T>C (n.*370T>C)
c.1545T>C (p.Ile515=)
c.276+16491A>G (n.276+16491A>G)
c.*220+6053T>C (n.*220+6053T>C)
c.669T>C (p.Ile223=)
c.696T>C (p.Ile232=)
c.1551T>C (p.Ile517=)
c.1365T>C (p.Ile455=)
c.1284T>C (p.Ile428=)
c.990T>C (p.Ile330=)
c.1371T>C (p.Ile457=)
2g.48688171A>TCA426125206GTF2A1L,LHCGR,STON1-GTF2A1Lc.1626T>A (p.Ile542=)
c.948-32T>A (n.948-32T>A)
c.3441+16491A>T (n.3441+16491A>T)
c.*370T>A (n.*370T>A)
c.1545T>A (p.Ile515=)
c.276+16491A>T (n.276+16491A>T)
c.*220+6053T>A (n.*220+6053T>A)
c.669T>A (p.Ile223=)
c.696T>A (p.Ile232=)
c.1551T>A (p.Ile517=)
c.1365T>A (p.Ile455=)
c.1284T>A (p.Ile428=)
c.990T>A (p.Ile330=)
c.1371T>A (p.Ile457=)
2g.48688172A=CA1248601018GTF2A1L,LHCGR,STON1-GTF2A1Lc.1625T= (p.Ile542=)
c.948-33T= (n.948-33T=)
c.3441+16492A= (n.3441+16492A=)
c.*369T= (n.*369T=)
c.1544T= (p.Ile515=)
c.276+16492A= (n.276+16492A=)
c.*220+6052T= (n.*220+6052T=)
c.668T= (p.Ile223=)
c.695T= (p.Ile232=)
c.1550T= (p.Ile517=)
c.1364T= (p.Ile455=)
c.1283T= (p.Ile428=)
c.989T= (p.Ile330=)
c.1370T= (p.Ile457=)
2g.48688172A>CCA346745748GTF2A1L,LHCGR,STON1-GTF2A1Lc.1625T>G (p.Ile542Ser)
c.948-33T>G (n.948-33T>G)
c.3441+16492A>C (n.3441+16492A>C)
c.*369T>G (n.*369T>G)
c.1544T>G (p.Ile515Ser)
c.276+16492A>C (n.276+16492A>C)
c.*220+6052T>G (n.*220+6052T>G)
c.668T>G (p.Ile223Ser)
c.695T>G (p.Ile232Ser)
c.1550T>G (p.Ile517Ser)
c.1364T>G (p.Ile455Ser)
c.1283T>G (p.Ile428Ser)
c.989T>G (p.Ile330Ser)
c.1370T>G (p.Ile457Ser)
2g.48688172A>GCA46752873GTF2A1L,LHCGR,STON1-GTF2A1Lc.1625T>C (p.Ile542Thr)
c.948-33T>C (n.948-33T>C)
c.3441+16492A>G (n.3441+16492A>G)
c.*369T>C (n.*369T>C)
c.1544T>C (p.Ile515Thr)
c.276+16492A>G (n.276+16492A>G)
c.*220+6052T>C (n.*220+6052T>C)
c.668T>C (p.Ile223Thr)
c.695T>C (p.Ile232Thr)
c.1550T>C (p.Ile517Thr)
c.1364T>C (p.Ile455Thr)
c.1283T>C (p.Ile428Thr)
c.989T>C (p.Ile330Thr)
c.1370T>C (p.Ile457Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.48688172A>TCA346745752GTF2A1L,LHCGR,STON1-GTF2A1Lc.1625T>A (p.Ile542Asn)
c.948-33T>A (n.948-33T>A)
c.3441+16492A>T (n.3441+16492A>T)
c.*369T>A (n.*369T>A)
c.1544T>A (p.Ile515Asn)
c.276+16492A>T (n.276+16492A>T)
c.*220+6052T>A (n.*220+6052T>A)
c.668T>A (p.Ile223Asn)
c.695T>A (p.Ile232Asn)
c.1550T>A (p.Ile517Asn)
c.1364T>A (p.Ile455Asn)
c.1283T>A (p.Ile428Asn)
c.989T>A (p.Ile330Asn)
c.1370T>A (p.Ile457Asn)
2g.48688173T>ACA346745760GTF2A1L,LHCGR,STON1-GTF2A1Lc.1624A>T (p.Ile542Phe)
c.948-34A>T (n.948-34A>T)
c.3441+16493T>A (n.3441+16493T>A)
c.*368A>T (n.*368A>T)
c.1543A>T (p.Ile515Phe)
c.276+16493T>A (n.276+16493T>A)
c.*220+6051A>T (n.*220+6051A>T)
c.667A>T (p.Ile223Phe)
c.694A>T (p.Ile232Phe)
c.1549A>T (p.Ile517Phe)
c.1363A>T (p.Ile455Phe)
c.1282A>T (p.Ile428Phe)
c.988A>T (p.Ile330Phe)
c.1369A>T (p.Ile457Phe)
2g.48688173T>CCA346745757GTF2A1L,LHCGR,STON1-GTF2A1Lc.1624A>G (p.Ile542Val)
c.948-34A>G (n.948-34A>G)
c.3441+16493T>C (n.3441+16493T>C)
c.*368A>G (n.*368A>G)
c.1543A>G (p.Ile515Val)
c.276+16493T>C (n.276+16493T>C)
c.*220+6051A>G (n.*220+6051A>G)
c.667A>G (p.Ile223Val)
c.694A>G (p.Ile232Val)
c.1549A>G (p.Ile517Val)
c.1363A>G (p.Ile455Val)
c.1282A>G (p.Ile428Val)
c.988A>G (p.Ile330Val)
c.1369A>G (p.Ile457Val)
 gnomAD v4
2g.48688173T>GCA123929GTF2A1L,LHCGR,STON1-GTF2A1Lc.1624A>C (p.Ile542Leu)
c.948-34A>C (n.948-34A>C)
c.3441+16493T>G (n.3441+16493T>G)
c.*368A>C (n.*368A>C)
c.1543A>C (p.Ile515Leu)
c.276+16493T>G (n.276+16493T>G)
c.*220+6051A>C (n.*220+6051A>C)
c.667A>C (p.Ile223Leu)
c.694A>C (p.Ile232Leu)
c.1549A>C (p.Ile517Leu)
c.1363A>C (p.Ile455Leu)
c.1282A>C (p.Ile428Leu)
c.988A>C (p.Ile330Leu)
c.1369A>C (p.Ile457Leu)
 ClinVar dbSNP
2g.48688173T=CA1248601019GTF2A1L,LHCGR,STON1-GTF2A1Lc.1624A= (p.Ile542=)
c.948-34A= (n.948-34A=)
c.3441+16493T= (n.3441+16493T=)
c.*368A= (n.*368A=)
c.1543A= (p.Ile515=)
c.276+16493T= (n.276+16493T=)
c.*220+6051A= (n.*220+6051A=)
c.667A= (p.Ile223=)
c.694A= (p.Ile232=)
c.1549A= (p.Ile517=)
c.1363A= (p.Ile455=)
c.1282A= (p.Ile428=)
c.988A= (p.Ile330=)
c.1369A= (p.Ile457=)
2g.48688174T>ACA426125211GTF2A1L,LHCGR,STON1-GTF2A1Lc.1623A>T (p.Ile541=)
c.948-35A>T (n.948-35A>T)
c.3441+16494T>A (n.3441+16494T>A)
c.*367A>T (n.*367A>T)
c.1542A>T (p.Ile514=)
c.276+16494T>A (n.276+16494T>A)
c.*220+6050A>T (n.*220+6050A>T)
c.666A>T (p.Ile222=)
c.693A>T (p.Ile231=)
c.1548A>T (p.Ile516=)
c.1362A>T (p.Ile454=)
c.1281A>T (p.Ile427=)
c.987A>T (p.Ile329=)
c.1368A>T (p.Ile456=)
2g.48688174T>CCA346745764GTF2A1L,LHCGR,STON1-GTF2A1Lc.1623A>G (p.Ile541Met)
c.948-35A>G (n.948-35A>G)
c.3441+16494T>C (n.3441+16494T>C)
c.*367A>G (n.*367A>G)
c.1542A>G (p.Ile514Met)
c.276+16494T>C (n.276+16494T>C)
c.*220+6050A>G (n.*220+6050A>G)
c.666A>G (p.Ile222Met)
c.693A>G (p.Ile231Met)
c.1548A>G (p.Ile516Met)
c.1362A>G (p.Ile454Met)
c.1281A>G (p.Ile427Met)
c.987A>G (p.Ile329Met)
c.1368A>G (p.Ile456Met)
2g.48688174T>GCA426125214GTF2A1L,LHCGR,STON1-GTF2A1Lc.1623A>C (p.Ile541=)
c.948-35A>C (n.948-35A>C)
c.3441+16494T>G (n.3441+16494T>G)
c.*367A>C (n.*367A>C)
c.1542A>C (p.Ile514=)
c.276+16494T>G (n.276+16494T>G)
c.*220+6050A>C (n.*220+6050A>C)
c.666A>C (p.Ile222=)
c.693A>C (p.Ile231=)
c.1548A>C (p.Ile516=)
c.1362A>C (p.Ile454=)
c.1281A>C (p.Ile427=)
c.987A>C (p.Ile329=)
c.1368A>C (p.Ile456=)
2g.48688175A>CCA346745770GTF2A1L,LHCGR,STON1-GTF2A1Lc.1622T>G (p.Ile541Arg)
c.948-36T>G (n.948-36T>G)
c.3441+16495A>C (n.3441+16495A>C)
c.*366T>G (n.*366T>G)
c.1541T>G (p.Ile514Arg)
c.276+16495A>C (n.276+16495A>C)
c.*220+6049T>G (n.*220+6049T>G)
c.665T>G (p.Ile222Arg)
c.692T>G (p.Ile231Arg)
c.1547T>G (p.Ile516Arg)
c.1361T>G (p.Ile454Arg)
c.1280T>G (p.Ile427Arg)
c.986T>G (p.Ile329Arg)
c.1367T>G (p.Ile456Arg)
2g.48688175A>GCA346745775GTF2A1L,LHCGR,STON1-GTF2A1Lc.1622T>C (p.Ile541Thr)
c.948-36T>C (n.948-36T>C)
c.3441+16495A>G (n.3441+16495A>G)
c.*366T>C (n.*366T>C)
c.1541T>C (p.Ile514Thr)
c.276+16495A>G (n.276+16495A>G)
c.*220+6049T>C (n.*220+6049T>C)
c.665T>C (p.Ile222Thr)
c.692T>C (p.Ile231Thr)
c.1547T>C (p.Ile516Thr)
c.1361T>C (p.Ile454Thr)
c.1280T>C (p.Ile427Thr)
c.986T>C (p.Ile329Thr)
c.1367T>C (p.Ile456Thr)
2g.48688175A>TCA346745772GTF2A1L,LHCGR,STON1-GTF2A1Lc.1622T>A (p.Ile541Lys)
c.948-36T>A (n.948-36T>A)
c.3441+16495A>T (n.3441+16495A>T)
c.*366T>A (n.*366T>A)
c.1541T>A (p.Ile514Lys)
c.276+16495A>T (n.276+16495A>T)
c.*220+6049T>A (n.*220+6049T>A)
c.665T>A (p.Ile222Lys)
c.692T>A (p.Ile231Lys)
c.1547T>A (p.Ile516Lys)
c.1361T>A (p.Ile454Lys)
c.1280T>A (p.Ile427Lys)
c.986T>A (p.Ile329Lys)
c.1367T>A (p.Ile456Lys)
 COSMIC
2g.48688176T>ACA346745778GTF2A1L,LHCGR,STON1-GTF2A1Lc.1621A>T (p.Ile541Leu)
c.948-37A>T (n.948-37A>T)
c.3441+16496T>A (n.3441+16496T>A)
c.*365A>T (n.*365A>T)
c.1540A>T (p.Ile514Leu)
c.276+16496T>A (n.276+16496T>A)
c.*220+6048A>T (n.*220+6048A>T)
c.664A>T (p.Ile222Leu)
c.691A>T (p.Ile231Leu)
c.1546A>T (p.Ile516Leu)
c.1360A>T (p.Ile454Leu)
c.1279A>T (p.Ile427Leu)
c.985A>T (p.Ile329Leu)
c.1366A>T (p.Ile456Leu)
2g.48688176T>CCA346745783GTF2A1L,LHCGR,STON1-GTF2A1Lc.1621A>G (p.Ile541Val)
c.948-37A>G (n.948-37A>G)
c.3441+16496T>C (n.3441+16496T>C)
c.*365A>G (n.*365A>G)
c.1540A>G (p.Ile514Val)
c.276+16496T>C (n.276+16496T>C)
c.*220+6048A>G (n.*220+6048A>G)
c.664A>G (p.Ile222Val)
c.691A>G (p.Ile231Val)
c.1546A>G (p.Ile516Val)
c.1360A>G (p.Ile454Val)
c.1279A>G (p.Ile427Val)
c.985A>G (p.Ile329Val)
c.1366A>G (p.Ile456Val)
2g.48688176T>GCA346745780GTF2A1L,LHCGR,STON1-GTF2A1Lc.1621A>C (p.Ile541Leu)
c.948-37A>C (n.948-37A>C)
c.3441+16496T>G (n.3441+16496T>G)
c.*365A>C (n.*365A>C)
c.1540A>C (p.Ile514Leu)
c.276+16496T>G (n.276+16496T>G)
c.*220+6048A>C (n.*220+6048A>C)
c.664A>C (p.Ile222Leu)
c.691A>C (p.Ile231Leu)
c.1546A>C (p.Ile516Leu)
c.1360A>C (p.Ile454Leu)
c.1279A>C (p.Ile427Leu)
c.985A>C (p.Ile329Leu)
c.1366A>C (p.Ile456Leu)
 gnomAD v4
2g.48688176_48688179delinsTGAACA1248601020GTF2A1L,LHCGR,STON1-GTF2A1Lc.1618_1621delinsTTCA (p.Phe540=)
c.948-40_948-37delinsTTCA (n.948-40_948-37delinsTTCA)
c.3441+16496_3441+16499delinsTGAA (n.3441+16496_3441+16499delinsTGAA)
c.*362_*365delinsTTCA (n.*362_*365delinsTTCA)
c.1537_1540delinsTTCA (p.Phe513=)
c.276+16496_276+16499delinsTGAA (n.276+16496_276+16499delinsTGAA)
c.*220+6045_*220+6048delinsTTCA (n.*220+6045_*220+6048delinsTTCA)
c.661_664delinsTTCA (p.Phe221=)
c.688_691delinsTTCA (p.Phe230=)
c.1543_1546delinsTTCA (p.Phe515=)
c.1357_1360delinsTTCA (p.Phe453=)
c.1276_1279delinsTTCA (p.Phe426=)
c.982_985delinsTTCA (p.Phe328=)
c.1363_1366delinsTTCA (p.Phe455=)
2g.48688177G>ACA426125217GTF2A1L,LHCGR,STON1-GTF2A1Lc.1620C>T (p.Phe540=)
c.948-38C>T (n.948-38C>T)
c.3441+16497G>A (n.3441+16497G>A)
c.*364C>T (n.*364C>T)
c.1539C>T (p.Phe513=)
c.276+16497G>A (n.276+16497G>A)
c.*220+6047C>T (n.*220+6047C>T)
c.663C>T (p.Phe221=)
c.690C>T (p.Phe230=)
c.1545C>T (p.Phe515=)
c.1359C>T (p.Phe453=)
c.1278C>T (p.Phe426=)
c.984C>T (p.Phe328=)
c.1365C>T (p.Phe455=)
 COSMIC
2g.48688177G>CCA346745784GTF2A1L,LHCGR,STON1-GTF2A1Lc.1620C>G (p.Phe540Leu)
c.948-38C>G (n.948-38C>G)
c.3441+16497G>C (n.3441+16497G>C)
c.*364C>G (n.*364C>G)
c.1539C>G (p.Phe513Leu)
c.276+16497G>C (n.276+16497G>C)
c.*220+6047C>G (n.*220+6047C>G)
c.663C>G (p.Phe221Leu)
c.690C>G (p.Phe230Leu)
c.1545C>G (p.Phe515Leu)
c.1359C>G (p.Phe453Leu)
c.1278C>G (p.Phe426Leu)
c.984C>G (p.Phe328Leu)
c.1365C>G (p.Phe455Leu)
2g.48688177G>TCA346745785GTF2A1L,LHCGR,STON1-GTF2A1Lc.1620C>A (p.Phe540Leu)
c.948-38C>A (n.948-38C>A)
c.3441+16497G>T (n.3441+16497G>T)
c.*364C>A (n.*364C>A)
c.1539C>A (p.Phe513Leu)
c.276+16497G>T (n.276+16497G>T)
c.*220+6047C>A (n.*220+6047C>A)
c.663C>A (p.Phe221Leu)
c.690C>A (p.Phe230Leu)
c.1545C>A (p.Phe515Leu)
c.1359C>A (p.Phe453Leu)
c.1278C>A (p.Phe426Leu)
c.984C>A (p.Phe328Leu)
c.1365C>A (p.Phe455Leu)
2g.48688181_48688183delCA1653010GTF2A1L,LHCGR,STON1-GTF2A1Lc.1618_1620del (p.Phe540del)
c.948-40_948-38del (n.948-40_948-38del)
c.3441+16501_3441+16503del (n.3441+16501_3441+16503del)
c.*362_*364del (n.*362_*364del)
c.1537_1539del (p.Phe513del)
c.276+16501_276+16503del (n.276+16501_276+16503del)
c.*220+6045_*220+6047del (n.*220+6045_*220+6047del)
c.661_663del (p.Phe221del)
c.688_690del (p.Phe230del)
c.1543_1545del (p.Phe515del)
c.1357_1359del (p.Phe453del)
c.1276_1278del (p.Phe426del)
c.982_984del (p.Phe328del)
c.1363_1365del (p.Phe455del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688178A>CCA346745788GTF2A1L,LHCGR,STON1-GTF2A1Lc.1619T>G (p.Phe540Cys)
c.948-39T>G (n.948-39T>G)
c.3441+16498A>C (n.3441+16498A>C)
c.*363T>G (n.*363T>G)
c.1538T>G (p.Phe513Cys)
c.276+16498A>C (n.276+16498A>C)
c.*220+6046T>G (n.*220+6046T>G)
c.662T>G (p.Phe221Cys)
c.689T>G (p.Phe230Cys)
c.1544T>G (p.Phe515Cys)
c.1358T>G (p.Phe453Cys)
c.1277T>G (p.Phe426Cys)
c.983T>G (p.Phe328Cys)
c.1364T>G (p.Phe455Cys)
2g.48688178A>GCA346745790GTF2A1L,LHCGR,STON1-GTF2A1Lc.1619T>C (p.Phe540Ser)
c.948-39T>C (n.948-39T>C)
c.3441+16498A>G (n.3441+16498A>G)
c.*363T>C (n.*363T>C)
c.1538T>C (p.Phe513Ser)
c.276+16498A>G (n.276+16498A>G)
c.*220+6046T>C (n.*220+6046T>C)
c.662T>C (p.Phe221Ser)
c.689T>C (p.Phe230Ser)
c.1544T>C (p.Phe515Ser)
c.1358T>C (p.Phe453Ser)
c.1277T>C (p.Phe426Ser)
c.983T>C (p.Phe328Ser)
c.1364T>C (p.Phe455Ser)
2g.48688178A>TCA346745794GTF2A1L,LHCGR,STON1-GTF2A1Lc.1619T>A (p.Phe540Tyr)
c.948-39T>A (n.948-39T>A)
c.3441+16498A>T (n.3441+16498A>T)
c.*363T>A (n.*363T>A)
c.1538T>A (p.Phe513Tyr)
c.276+16498A>T (n.276+16498A>T)
c.*220+6046T>A (n.*220+6046T>A)
c.662T>A (p.Phe221Tyr)
c.689T>A (p.Phe230Tyr)
c.1544T>A (p.Phe515Tyr)
c.1358T>A (p.Phe453Tyr)
c.1277T>A (p.Phe426Tyr)
c.983T>A (p.Phe328Tyr)
c.1364T>A (p.Phe455Tyr)
2g.48688179A>CCA346745797GTF2A1L,LHCGR,STON1-GTF2A1Lc.1618T>G (p.Phe540Val)
c.948-40T>G (n.948-40T>G)
c.3441+16499A>C (n.3441+16499A>C)
c.*362T>G (n.*362T>G)
c.1537T>G (p.Phe513Val)
c.276+16499A>C (n.276+16499A>C)
c.*220+6045T>G (n.*220+6045T>G)
c.661T>G (p.Phe221Val)
c.688T>G (p.Phe230Val)
c.1543T>G (p.Phe515Val)
c.1357T>G (p.Phe453Val)
c.1276T>G (p.Phe426Val)
c.982T>G (p.Phe328Val)
c.1363T>G (p.Phe455Val)
2g.48688179A>GCA346745799GTF2A1L,LHCGR,STON1-GTF2A1Lc.1618T>C (p.Phe540Leu)
c.948-40T>C (n.948-40T>C)
c.3441+16499A>G (n.3441+16499A>G)
c.*362T>C (n.*362T>C)
c.1537T>C (p.Phe513Leu)
c.276+16499A>G (n.276+16499A>G)
c.*220+6045T>C (n.*220+6045T>C)
c.661T>C (p.Phe221Leu)
c.688T>C (p.Phe230Leu)
c.1543T>C (p.Phe515Leu)
c.1357T>C (p.Phe453Leu)
c.1276T>C (p.Phe426Leu)
c.982T>C (p.Phe328Leu)
c.1363T>C (p.Phe455Leu)
2g.48688179A>TCA346745803GTF2A1L,LHCGR,STON1-GTF2A1Lc.1618T>A (p.Phe540Ile)
c.948-40T>A (n.948-40T>A)
c.3441+16499A>T (n.3441+16499A>T)
c.*362T>A (n.*362T>A)
c.1537T>A (p.Phe513Ile)
c.276+16499A>T (n.276+16499A>T)
c.*220+6045T>A (n.*220+6045T>A)
c.661T>A (p.Phe221Ile)
c.688T>A (p.Phe230Ile)
c.1543T>A (p.Phe515Ile)
c.1357T>A (p.Phe453Ile)
c.1276T>A (p.Phe426Ile)
c.982T>A (p.Phe328Ile)
c.1363T>A (p.Phe455Ile)
2g.48688180G>ACA426125226GTF2A1L,LHCGR,STON1-GTF2A1Lc.1617C>T (p.Phe539=)
c.948-41C>T (n.948-41C>T)
c.3441+16500G>A (n.3441+16500G>A)
c.*361C>T (n.*361C>T)
c.1536C>T (p.Phe512=)
c.276+16500G>A (n.276+16500G>A)
c.*220+6044C>T (n.*220+6044C>T)
c.660C>T (p.Phe220=)
c.687C>T (p.Phe229=)
c.1542C>T (p.Phe514=)
c.1356C>T (p.Phe452=)
c.1275C>T (p.Phe425=)
c.981C>T (p.Phe327=)
c.1362C>T (p.Phe454=)
2g.48688180G>CCA346745808GTF2A1L,LHCGR,STON1-GTF2A1Lc.1617C>G (p.Phe539Leu)
c.948-41C>G (n.948-41C>G)
c.3441+16500G>C (n.3441+16500G>C)
c.*361C>G (n.*361C>G)
c.1536C>G (p.Phe512Leu)
c.276+16500G>C (n.276+16500G>C)
c.*220+6044C>G (n.*220+6044C>G)
c.660C>G (p.Phe220Leu)
c.687C>G (p.Phe229Leu)
c.1542C>G (p.Phe514Leu)
c.1356C>G (p.Phe452Leu)
c.1275C>G (p.Phe425Leu)
c.981C>G (p.Phe327Leu)
c.1362C>G (p.Phe454Leu)
2g.48688180G>TCA346745811GTF2A1L,LHCGR,STON1-GTF2A1Lc.1617C>A (p.Phe539Leu)
c.948-41C>A (n.948-41C>A)
c.3441+16500G>T (n.3441+16500G>T)
c.*361C>A (n.*361C>A)
c.1536C>A (p.Phe512Leu)
c.276+16500G>T (n.276+16500G>T)
c.*220+6044C>A (n.*220+6044C>A)
c.660C>A (p.Phe220Leu)
c.687C>A (p.Phe229Leu)
c.1542C>A (p.Phe514Leu)
c.1356C>A (p.Phe452Leu)
c.1275C>A (p.Phe425Leu)
c.981C>A (p.Phe327Leu)
c.1362C>A (p.Phe454Leu)
2g.48688181A=CA1248601021GTF2A1L,LHCGR,STON1-GTF2A1Lc.1616T= (p.Phe539=)
c.948-42T= (n.948-42T=)
c.3441+16501A= (n.3441+16501A=)
c.*360T= (n.*360T=)
c.1535T= (p.Phe512=)
c.276+16501A= (n.276+16501A=)
c.*220+6043T= (n.*220+6043T=)
c.659T= (p.Phe220=)
c.686T= (p.Phe229=)
c.1541T= (p.Phe514=)
c.1355T= (p.Phe452=)
c.1274T= (p.Phe425=)
c.980T= (p.Phe327=)
c.1361T= (p.Phe454=)
2g.48688181A>CCA346745815GTF2A1L,LHCGR,STON1-GTF2A1Lc.1616T>G (p.Phe539Cys)
c.948-42T>G (n.948-42T>G)
c.3441+16501A>C (n.3441+16501A>C)
c.*360T>G (n.*360T>G)
c.1535T>G (p.Phe512Cys)
c.276+16501A>C (n.276+16501A>C)
c.*220+6043T>G (n.*220+6043T>G)
c.659T>G (p.Phe220Cys)
c.686T>G (p.Phe229Cys)
c.1541T>G (p.Phe514Cys)
c.1355T>G (p.Phe452Cys)
c.1274T>G (p.Phe425Cys)
c.980T>G (p.Phe327Cys)
c.1361T>G (p.Phe454Cys)
2g.48688181A>GCA346745817GTF2A1L,LHCGR,STON1-GTF2A1Lc.1616T>C (p.Phe539Ser)
c.948-42T>C (n.948-42T>C)
c.3441+16501A>G (n.3441+16501A>G)
c.*360T>C (n.*360T>C)
c.1535T>C (p.Phe512Ser)
c.276+16501A>G (n.276+16501A>G)
c.*220+6043T>C (n.*220+6043T>C)
c.659T>C (p.Phe220Ser)
c.686T>C (p.Phe229Ser)
c.1541T>C (p.Phe514Ser)
c.1355T>C (p.Phe452Ser)
c.1274T>C (p.Phe425Ser)
c.980T>C (p.Phe327Ser)
c.1361T>C (p.Phe454Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.48688181A>TCA346745821GTF2A1L,LHCGR,STON1-GTF2A1Lc.1616T>A (p.Phe539Tyr)
c.948-42T>A (n.948-42T>A)
c.3441+16501A>T (n.3441+16501A>T)
c.*360T>A (n.*360T>A)
c.1535T>A (p.Phe512Tyr)
c.276+16501A>T (n.276+16501A>T)
c.*220+6043T>A (n.*220+6043T>A)
c.659T>A (p.Phe220Tyr)
c.686T>A (p.Phe229Tyr)
c.1541T>A (p.Phe514Tyr)
c.1355T>A (p.Phe452Tyr)
c.1274T>A (p.Phe425Tyr)
c.980T>A (p.Phe327Tyr)
c.1361T>A (p.Phe454Tyr)
2g.48688182A>CCA346745824GTF2A1L,LHCGR,STON1-GTF2A1Lc.1615T>G (p.Phe539Val)
c.948-43T>G (n.948-43T>G)
c.3441+16502A>C (n.3441+16502A>C)
c.*359T>G (n.*359T>G)
c.1534T>G (p.Phe512Val)
c.276+16502A>C (n.276+16502A>C)
c.*220+6042T>G (n.*220+6042T>G)
c.658T>G (p.Phe220Val)
c.685T>G (p.Phe229Val)
c.1540T>G (p.Phe514Val)
c.1354T>G (p.Phe452Val)
c.1273T>G (p.Phe425Val)
c.979T>G (p.Phe327Val)
c.1360T>G (p.Phe454Val)
2g.48688182A>GCA346745832GTF2A1L,LHCGR,STON1-GTF2A1Lc.1615T>C (p.Phe539Leu)
c.948-43T>C (n.948-43T>C)
c.3441+16502A>G (n.3441+16502A>G)
c.*359T>C (n.*359T>C)
c.1534T>C (p.Phe512Leu)
c.276+16502A>G (n.276+16502A>G)
c.*220+6042T>C (n.*220+6042T>C)
c.658T>C (p.Phe220Leu)
c.685T>C (p.Phe229Leu)
c.1540T>C (p.Phe514Leu)
c.1354T>C (p.Phe452Leu)
c.1273T>C (p.Phe425Leu)
c.979T>C (p.Phe327Leu)
c.1360T>C (p.Phe454Leu)
2g.48688182A>TCA346745830GTF2A1L,LHCGR,STON1-GTF2A1Lc.1615T>A (p.Phe539Ile)
c.948-43T>A (n.948-43T>A)
c.3441+16502A>T (n.3441+16502A>T)
c.*359T>A (n.*359T>A)
c.1534T>A (p.Phe512Ile)
c.276+16502A>T (n.276+16502A>T)
c.*220+6042T>A (n.*220+6042T>A)
c.658T>A (p.Phe220Ile)
c.685T>A (p.Phe229Ile)
c.1540T>A (p.Phe514Ile)
c.1354T>A (p.Phe452Ile)
c.1273T>A (p.Phe425Ile)
c.979T>A (p.Phe327Ile)
c.1360T>A (p.Phe454Ile)
2g.48688183G>ACA426125232GTF2A1L,LHCGR,STON1-GTF2A1Lc.1614C>T (p.Ala538=)
c.948-44C>T (n.948-44C>T)
c.3441+16503G>A (n.3441+16503G>A)
c.*358C>T (n.*358C>T)
c.1533C>T (p.Ala511=)
c.276+16503G>A (n.276+16503G>A)
c.*220+6041C>T (n.*220+6041C>T)
c.657C>T (p.Ala219=)
c.684C>T (p.Ala228=)
c.1539C>T (p.Ala513=)
c.1353C>T (p.Ala451=)
c.1272C>T (p.Ala424=)
c.978C>T (p.Ala326=)
c.1359C>T (p.Ala453=)
2g.48688183G>CCA426125231GTF2A1L,LHCGR,STON1-GTF2A1Lc.1614C>G (p.Ala538=)
c.948-44C>G (n.948-44C>G)
c.3441+16503G>C (n.3441+16503G>C)
c.*358C>G (n.*358C>G)
c.1533C>G (p.Ala511=)
c.276+16503G>C (n.276+16503G>C)
c.*220+6041C>G (n.*220+6041C>G)
c.657C>G (p.Ala219=)
c.684C>G (p.Ala228=)
c.1539C>G (p.Ala513=)
c.1353C>G (p.Ala451=)
c.1272C>G (p.Ala424=)
c.978C>G (p.Ala326=)
c.1359C>G (p.Ala453=)
2g.48688183G>TCA426125230GTF2A1L,LHCGR,STON1-GTF2A1Lc.1614C>A (p.Ala538=)
c.948-44C>A (n.948-44C>A)
c.3441+16503G>T (n.3441+16503G>T)
c.*358C>A (n.*358C>A)
c.1533C>A (p.Ala511=)
c.276+16503G>T (n.276+16503G>T)
c.*220+6041C>A (n.*220+6041C>A)
c.657C>A (p.Ala219=)
c.684C>A (p.Ala228=)
c.1539C>A (p.Ala513=)
c.1353C>A (p.Ala451=)
c.1272C>A (p.Ala424=)
c.978C>A (p.Ala326=)
c.1359C>A (p.Ala453=)
2g.48688184delCA2658992083GTF2A1L,LHCGR,STON1-GTF2A1Lc.1614del (p.Phe539SerfsTer3)
c.948-44del (n.948-44del)
c.3441+16504del (n.3441+16504del)
c.*358del (n.*358del)
c.1533del (p.Phe512SerfsTer3)
c.276+16504del (n.276+16504del)
c.*220+6041del (n.*220+6041del)
c.657del (p.Phe220SerfsTer3)
c.684del (p.Phe229SerfsTer3)
c.1539del (p.Phe514SerfsTer3)
c.1353del (p.Phe452SerfsTer3)
c.1272del (p.Phe425SerfsTer3)
c.978del (p.Phe327SerfsTer3)
c.1359del (p.Phe454SerfsTer3)
 gnomAD v4
2g.48688184G>ACA346745843GTF2A1L,LHCGR,STON1-GTF2A1Lc.1613C>T (p.Ala538Val)
c.948-45C>T (n.948-45C>T)
c.3441+16504G>A (n.3441+16504G>A)
c.*357C>T (n.*357C>T)
c.1532C>T (p.Ala511Val)
c.276+16504G>A (n.276+16504G>A)
c.*220+6040C>T (n.*220+6040C>T)
c.656C>T (p.Ala219Val)
c.683C>T (p.Ala228Val)
c.1538C>T (p.Ala513Val)
c.1352C>T (p.Ala451Val)
c.1271C>T (p.Ala424Val)
c.977C>T (p.Ala326Val)
c.1358C>T (p.Ala453Val)
2g.48688184G>CCA346745849GTF2A1L,LHCGR,STON1-GTF2A1Lc.1613C>G (p.Ala538Gly)
c.948-45C>G (n.948-45C>G)
c.3441+16504G>C (n.3441+16504G>C)
c.*357C>G (n.*357C>G)
c.1532C>G (p.Ala511Gly)
c.276+16504G>C (n.276+16504G>C)
c.*220+6040C>G (n.*220+6040C>G)
c.656C>G (p.Ala219Gly)
c.683C>G (p.Ala228Gly)
c.1538C>G (p.Ala513Gly)
c.1352C>G (p.Ala451Gly)
c.1271C>G (p.Ala424Gly)
c.977C>G (p.Ala326Gly)
c.1358C>G (p.Ala453Gly)
2g.48688184G>TCA346745857GTF2A1L,LHCGR,STON1-GTF2A1Lc.1613C>A (p.Ala538Asp)
c.948-45C>A (n.948-45C>A)
c.3441+16504G>T (n.3441+16504G>T)
c.*357C>A (n.*357C>A)
c.1532C>A (p.Ala511Asp)
c.276+16504G>T (n.276+16504G>T)
c.*220+6040C>A (n.*220+6040C>A)
c.656C>A (p.Ala219Asp)
c.683C>A (p.Ala228Asp)
c.1538C>A (p.Ala513Asp)
c.1352C>A (p.Ala451Asp)
c.1271C>A (p.Ala424Asp)
c.977C>A (p.Ala326Asp)
c.1358C>A (p.Ala453Asp)
2g.48688185C>ACA346745859GTF2A1L,LHCGR,STON1-GTF2A1Lc.1612G>T (p.Ala538Ser)
c.948-46G>T (n.948-46G>T)
c.3441+16505C>A (n.3441+16505C>A)
c.*356G>T (n.*356G>T)
c.1531G>T (p.Ala511Ser)
c.276+16505C>A (n.276+16505C>A)
c.*220+6039G>T (n.*220+6039G>T)
c.655G>T (p.Ala219Ser)
c.682G>T (p.Ala228Ser)
c.1537G>T (p.Ala513Ser)
c.1351G>T (p.Ala451Ser)
c.1270G>T (p.Ala424Ser)
c.976G>T (p.Ala326Ser)
c.1357G>T (p.Ala453Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.48688185C=CA1248601022GTF2A1L,LHCGR,STON1-GTF2A1Lc.1612G= (p.Ala538=)
c.948-46G= (n.948-46G=)
c.3441+16505C= (n.3441+16505C=)
c.*356G= (n.*356G=)
c.1531G= (p.Ala511=)
c.276+16505C= (n.276+16505C=)
c.*220+6039G= (n.*220+6039G=)
c.655G= (p.Ala219=)
c.682G= (p.Ala228=)
c.1537G= (p.Ala513=)
c.1351G= (p.Ala451=)
c.1270G= (p.Ala424=)
c.976G= (p.Ala326=)
c.1357G= (p.Ala453=)
2g.48688185C>GCA346745864GTF2A1L,LHCGR,STON1-GTF2A1Lc.1612G>C (p.Ala538Pro)
c.948-46G>C (n.948-46G>C)
c.3441+16505C>G (n.3441+16505C>G)
c.*356G>C (n.*356G>C)
c.1531G>C (p.Ala511Pro)
c.276+16505C>G (n.276+16505C>G)
c.*220+6039G>C (n.*220+6039G>C)
c.655G>C (p.Ala219Pro)
c.682G>C (p.Ala228Pro)
c.1537G>C (p.Ala513Pro)
c.1351G>C (p.Ala451Pro)
c.1270G>C (p.Ala424Pro)
c.976G>C (p.Ala326Pro)
c.1357G>C (p.Ala453Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.48688185C>TCA346745866GTF2A1L,LHCGR,STON1-GTF2A1Lc.1612G>A (p.Ala538Thr)
c.948-46G>A (n.948-46G>A)
c.3441+16505C>T (n.3441+16505C>T)
c.*356G>A (n.*356G>A)
c.1531G>A (p.Ala511Thr)
c.276+16505C>T (n.276+16505C>T)
c.*220+6039G>A (n.*220+6039G>A)
c.655G>A (p.Ala219Thr)
c.682G>A (p.Ala228Thr)
c.1537G>A (p.Ala513Thr)
c.1351G>A (p.Ala451Thr)
c.1270G>A (p.Ala424Thr)
c.976G>A (p.Ala326Thr)
c.1357G>A (p.Ala453Thr)
 dbSNP gnomAD v4 COSMIC
2g.48688186C>ACA426125236GTF2A1L,LHCGR,STON1-GTF2A1Lc.1611G>T (p.Val537=)
c.948-47G>T (n.948-47G>T)
c.3441+16506C>A (n.3441+16506C>A)
c.*355G>T (n.*355G>T)
c.1530G>T (p.Val510=)
c.276+16506C>A (n.276+16506C>A)
c.*220+6038G>T (n.*220+6038G>T)
c.654G>T (p.Val218=)
c.681G>T (p.Val227=)
c.1536G>T (p.Val512=)
c.1350G>T (p.Val450=)
c.1269G>T (p.Val423=)
c.975G>T (p.Val325=)
c.1356G>T (p.Val452=)
 dbSNP gnomAD v2 gnomAD v4
2g.48688186C=CA1248601023GTF2A1L,LHCGR,STON1-GTF2A1Lc.1611G= (p.Val537=)
c.948-47G= (n.948-47G=)
c.3441+16506C= (n.3441+16506C=)
c.*355G= (n.*355G=)
c.1530G= (p.Val510=)
c.276+16506C= (n.276+16506C=)
c.*220+6038G= (n.*220+6038G=)
c.654G= (p.Val218=)
c.681G= (p.Val227=)
c.1536G= (p.Val512=)
c.1350G= (p.Val450=)
c.1269G= (p.Val423=)
c.975G= (p.Val325=)
c.1356G= (p.Val452=)
2g.48688186C>GCA426125234GTF2A1L,LHCGR,STON1-GTF2A1Lc.1611G>C (p.Val537=)
c.948-47G>C (n.948-47G>C)
c.3441+16506C>G (n.3441+16506C>G)
c.*355G>C (n.*355G>C)
c.1530G>C (p.Val510=)
c.276+16506C>G (n.276+16506C>G)
c.*220+6038G>C (n.*220+6038G>C)
c.654G>C (p.Val218=)
c.681G>C (p.Val227=)
c.1536G>C (p.Val512=)
c.1350G>C (p.Val450=)
c.1269G>C (p.Val423=)
c.975G>C (p.Val325=)
c.1356G>C (p.Val452=)
2g.48688186C>TCA426125233GTF2A1L,LHCGR,STON1-GTF2A1Lc.1611G>A (p.Val537=)
c.948-47G>A (n.948-47G>A)
c.3441+16506C>T (n.3441+16506C>T)
c.*355G>A (n.*355G>A)
c.1530G>A (p.Val510=)
c.276+16506C>T (n.276+16506C>T)
c.*220+6038G>A (n.*220+6038G>A)
c.654G>A (p.Val218=)
c.681G>A (p.Val227=)
c.1536G>A (p.Val512=)
c.1350G>A (p.Val450=)
c.1269G>A (p.Val423=)
c.975G>A (p.Val325=)
c.1356G>A (p.Val452=)
 dbSNP
2g.48688187A>CCA346745870GTF2A1L,LHCGR,STON1-GTF2A1Lc.1610T>G (p.Val537Gly)
c.948-48T>G (n.948-48T>G)
c.3441+16507A>C (n.3441+16507A>C)
c.*354T>G (n.*354T>G)
c.1529T>G (p.Val510Gly)
c.276+16507A>C (n.276+16507A>C)
c.*220+6037T>G (n.*220+6037T>G)
c.653T>G (p.Val218Gly)
c.680T>G (p.Val227Gly)
c.1535T>G (p.Val512Gly)
c.1349T>G (p.Val450Gly)
c.1268T>G (p.Val423Gly)
c.974T>G (p.Val325Gly)
c.1355T>G (p.Val452Gly)
2g.48688187A>GCA346745873GTF2A1L,LHCGR,STON1-GTF2A1Lc.1610T>C (p.Val537Ala)
c.948-48T>C (n.948-48T>C)
c.3441+16507A>G (n.3441+16507A>G)
c.*354T>C (n.*354T>C)
c.1529T>C (p.Val510Ala)
c.276+16507A>G (n.276+16507A>G)
c.*220+6037T>C (n.*220+6037T>C)
c.653T>C (p.Val218Ala)
c.680T>C (p.Val227Ala)
c.1535T>C (p.Val512Ala)
c.1349T>C (p.Val450Ala)
c.1268T>C (p.Val423Ala)
c.974T>C (p.Val325Ala)
c.1355T>C (p.Val452Ala)
2g.48688187A>TCA346745877GTF2A1L,LHCGR,STON1-GTF2A1Lc.1610T>A (p.Val537Glu)
c.948-48T>A (n.948-48T>A)
c.3441+16507A>T (n.3441+16507A>T)
c.*354T>A (n.*354T>A)
c.1529T>A (p.Val510Glu)
c.276+16507A>T (n.276+16507A>T)
c.*220+6037T>A (n.*220+6037T>A)
c.653T>A (p.Val218Glu)
c.680T>A (p.Val227Glu)
c.1535T>A (p.Val512Glu)
c.1349T>A (p.Val450Glu)
c.1268T>A (p.Val423Glu)
c.974T>A (p.Val325Glu)
c.1355T>A (p.Val452Glu)
2g.48688188C>ACA346745884GTF2A1L,LHCGR,STON1-GTF2A1Lc.1609G>T (p.Val537Leu)
c.948-49G>T (n.948-49G>T)
c.3441+16508C>A (n.3441+16508C>A)
c.*353G>T (n.*353G>T)
c.1528G>T (p.Val510Leu)
c.276+16508C>A (n.276+16508C>A)
c.*220+6036G>T (n.*220+6036G>T)
c.652G>T (p.Val218Leu)
c.679G>T (p.Val227Leu)
c.1534G>T (p.Val512Leu)
c.1348G>T (p.Val450Leu)
c.1267G>T (p.Val423Leu)
c.973G>T (p.Val325Leu)
c.1354G>T (p.Val452Leu)
2g.48688188C=CA1248601024GTF2A1L,LHCGR,STON1-GTF2A1Lc.1609G= (p.Val537=)
c.948-49G= (n.948-49G=)
c.3441+16508C= (n.3441+16508C=)
c.*353G= (n.*353G=)
c.1528G= (p.Val510=)
c.276+16508C= (n.276+16508C=)
c.*220+6036G= (n.*220+6036G=)
c.652G= (p.Val218=)
c.679G= (p.Val227=)
c.1534G= (p.Val512=)
c.1348G= (p.Val450=)
c.1267G= (p.Val423=)
c.973G= (p.Val325=)
c.1354G= (p.Val452=)
2g.48688188C>GCA346745889GTF2A1L,LHCGR,STON1-GTF2A1Lc.1609G>C (p.Val537Leu)
c.948-49G>C (n.948-49G>C)
c.3441+16508C>G (n.3441+16508C>G)
c.*353G>C (n.*353G>C)
c.1528G>C (p.Val510Leu)
c.276+16508C>G (n.276+16508C>G)
c.*220+6036G>C (n.*220+6036G>C)
c.652G>C (p.Val218Leu)
c.679G>C (p.Val227Leu)
c.1534G>C (p.Val512Leu)
c.1348G>C (p.Val450Leu)
c.1267G>C (p.Val423Leu)
c.973G>C (p.Val325Leu)
c.1354G>C (p.Val452Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.48688188C>TCA1653011GTF2A1L,LHCGR,STON1-GTF2A1Lc.1609G>A (p.Val537Met)
c.948-49G>A (n.948-49G>A)
c.3441+16508C>T (n.3441+16508C>T)
c.*353G>A (n.*353G>A)
c.1528G>A (p.Val510Met)
c.276+16508C>T (n.276+16508C>T)
c.*220+6036G>A (n.*220+6036G>A)
c.652G>A (p.Val218Met)
c.679G>A (p.Val227Met)
c.1534G>A (p.Val512Met)
c.1348G>A (p.Val450Met)
c.1267G>A (p.Val423Met)
c.973G>A (p.Val325Met)
c.1354G>A (p.Val452Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688189C>ACA426125247GTF2A1L,LHCGR,STON1-GTF2A1Lc.1608G>T (p.Val536=)
c.948-50G>T (n.948-50G>T)
c.3441+16509C>A (n.3441+16509C>A)
c.*352G>T (n.*352G>T)
c.1527G>T (p.Val509=)
c.276+16509C>A (n.276+16509C>A)
c.*220+6035G>T (n.*220+6035G>T)
c.651G>T (p.Val217=)
c.678G>T (p.Val226=)
c.1533G>T (p.Val511=)
c.1347G>T (p.Val449=)
c.1266G>T (p.Val422=)
c.972G>T (p.Val324=)
c.1353G>T (p.Val451=)
 gnomAD v4
2g.48688189C=CA1248601025GTF2A1L,LHCGR,STON1-GTF2A1Lc.1608G= (p.Val536=)
c.948-50G= (n.948-50G=)
c.3441+16509C= (n.3441+16509C=)
c.*352G= (n.*352G=)
c.1527G= (p.Val509=)
c.276+16509C= (n.276+16509C=)
c.*220+6035G= (n.*220+6035G=)
c.651G= (p.Val217=)
c.678G= (p.Val226=)
c.1533G= (p.Val511=)
c.1347G= (p.Val449=)
c.1266G= (p.Val422=)
c.972G= (p.Val324=)
c.1353G= (p.Val451=)
2g.48688189C>GCA426125251GTF2A1L,LHCGR,STON1-GTF2A1Lc.1608G>C (p.Val536=)
c.948-50G>C (n.948-50G>C)
c.3441+16509C>G (n.3441+16509C>G)
c.*352G>C (n.*352G>C)
c.1527G>C (p.Val509=)
c.276+16509C>G (n.276+16509C>G)
c.*220+6035G>C (n.*220+6035G>C)
c.651G>C (p.Val217=)
c.678G>C (p.Val226=)
c.1533G>C (p.Val511=)
c.1347G>C (p.Val449=)
c.1266G>C (p.Val422=)
c.972G>C (p.Val324=)
c.1353G>C (p.Val451=)
2g.48688189C>TCA46752892GTF2A1L,LHCGR,STON1-GTF2A1Lc.1608G>A (p.Val536=)
c.948-50G>A (n.948-50G>A)
c.3441+16509C>T (n.3441+16509C>T)
c.*352G>A (n.*352G>A)
c.1527G>A (p.Val509=)
c.276+16509C>T (n.276+16509C>T)
c.*220+6035G>A (n.*220+6035G>A)
c.651G>A (p.Val217=)
c.678G>A (p.Val226=)
c.1533G>A (p.Val511=)
c.1347G>A (p.Val449=)
c.1266G>A (p.Val422=)
c.972G>A (p.Val324=)
c.1353G>A (p.Val451=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688190A>CCA346745900GTF2A1L,LHCGR,STON1-GTF2A1Lc.1607T>G (p.Val536Gly)
c.948-51T>G (n.948-51T>G)
c.3441+16510A>C (n.3441+16510A>C)
c.*351T>G (n.*351T>G)
c.1526T>G (p.Val509Gly)
c.276+16510A>C (n.276+16510A>C)
c.*220+6034T>G (n.*220+6034T>G)
c.650T>G (p.Val217Gly)
c.677T>G (p.Val226Gly)
c.1532T>G (p.Val511Gly)
c.1346T>G (p.Val449Gly)
c.1265T>G (p.Val422Gly)
c.971T>G (p.Val324Gly)
c.1352T>G (p.Val451Gly)
2g.48688190A>GCA346745901GTF2A1L,LHCGR,STON1-GTF2A1Lc.1607T>C (p.Val536Ala)
c.948-51T>C (n.948-51T>C)
c.3441+16510A>G (n.3441+16510A>G)
c.*351T>C (n.*351T>C)
c.1526T>C (p.Val509Ala)
c.276+16510A>G (n.276+16510A>G)
c.*220+6034T>C (n.*220+6034T>C)
c.650T>C (p.Val217Ala)
c.677T>C (p.Val226Ala)
c.1532T>C (p.Val511Ala)
c.1346T>C (p.Val449Ala)
c.1265T>C (p.Val422Ala)
c.971T>C (p.Val324Ala)
c.1352T>C (p.Val451Ala)
2g.48688190A>TCA346745902GTF2A1L,LHCGR,STON1-GTF2A1Lc.1607T>A (p.Val536Glu)
c.948-51T>A (n.948-51T>A)
c.3441+16510A>T (n.3441+16510A>T)
c.*351T>A (n.*351T>A)
c.1526T>A (p.Val509Glu)
c.276+16510A>T (n.276+16510A>T)
c.*220+6034T>A (n.*220+6034T>A)
c.650T>A (p.Val217Glu)
c.677T>A (p.Val226Glu)
c.1532T>A (p.Val511Glu)
c.1346T>A (p.Val449Glu)
c.1265T>A (p.Val422Glu)
c.971T>A (p.Val324Glu)
c.1352T>A (p.Val451Glu)
2g.48688191C>ACA346745903GTF2A1L,LHCGR,STON1-GTF2A1Lc.1606G>T (p.Val536Leu)
c.948-52G>T (n.948-52G>T)
c.3441+16511C>A (n.3441+16511C>A)
c.*350G>T (n.*350G>T)
c.1525G>T (p.Val509Leu)
c.276+16511C>A (n.276+16511C>A)
c.*220+6033G>T (n.*220+6033G>T)
c.649G>T (p.Val217Leu)
c.676G>T (p.Val226Leu)
c.1531G>T (p.Val511Leu)
c.1345G>T (p.Val449Leu)
c.1264G>T (p.Val422Leu)
c.970G>T (p.Val324Leu)
c.1351G>T (p.Val451Leu)
2g.48688191C>GCA346745904GTF2A1L,LHCGR,STON1-GTF2A1Lc.1606G>C (p.Val536Leu)
c.948-52G>C (n.948-52G>C)
c.3441+16511C>G (n.3441+16511C>G)
c.*350G>C (n.*350G>C)
c.1525G>C (p.Val509Leu)
c.276+16511C>G (n.276+16511C>G)
c.*220+6033G>C (n.*220+6033G>C)
c.649G>C (p.Val217Leu)
c.676G>C (p.Val226Leu)
c.1531G>C (p.Val511Leu)
c.1345G>C (p.Val449Leu)
c.1264G>C (p.Val422Leu)
c.970G>C (p.Val324Leu)
c.1351G>C (p.Val451Leu)
2g.48688191C>TCA346745905GTF2A1L,LHCGR,STON1-GTF2A1Lc.1606G>A (p.Val536Met)
c.948-52G>A (n.948-52G>A)
c.3441+16511C>T (n.3441+16511C>T)
c.*350G>A (n.*350G>A)
c.1525G>A (p.Val509Met)
c.276+16511C>T (n.276+16511C>T)
c.*220+6033G>A (n.*220+6033G>A)
c.649G>A (p.Val217Met)
c.676G>A (p.Val226Met)
c.1531G>A (p.Val511Met)
c.1345G>A (p.Val449Met)
c.1264G>A (p.Val422Met)
c.970G>A (p.Val324Met)
c.1351G>A (p.Val451Met)
 gnomAD v4
2g.48688191_48688192delinsCACA1248601026GTF2A1L,LHCGR,STON1-GTF2A1Lc.1605_1606delinsTG (p.Asn535=)
c.948-53_948-52delinsTG (n.948-53_948-52delinsTG)
c.3441+16511_3441+16512delinsCA (n.3441+16511_3441+16512delinsCA)
c.*349_*350delinsTG (n.*349_*350delinsTG)
c.1524_1525delinsTG (p.Asn508=)
c.276+16511_276+16512delinsCA (n.276+16511_276+16512delinsCA)
c.*220+6032_*220+6033delinsTG (n.*220+6032_*220+6033delinsTG)
c.648_649delinsTG (p.Asn216=)
c.675_676delinsTG (p.Asn225=)
c.1530_1531delinsTG (p.Asn510=)
c.1344_1345delinsTG (p.Asn448=)
c.1263_1264delinsTG (p.Asn421=)
c.969_970delinsTG (p.Asn323=)
c.1350_1351delinsTG (p.Asn450=)
2g.48688192delCA532706165GTF2A1L,LHCGR,STON1-GTF2A1Lc.1605del (p.Asn535LysfsTer7)
c.948-53del (n.948-53del)
c.3441+16512del (n.3441+16512del)
c.*349del (n.*349del)
c.1524del (p.Asn508LysfsTer7)
c.276+16512del (n.276+16512del)
c.*220+6032del (n.*220+6032del)
c.648del (p.Asn216LysfsTer7)
c.675del (p.Asn225LysfsTer7)
c.1530del (p.Asn510LysfsTer7)
c.1344del (p.Asn448LysfsTer7)
c.1263del (p.Asn421LysfsTer7)
c.969del (p.Asn323LysfsTer7)
c.1350del (p.Asn450LysfsTer7)
 dbSNP gnomAD v2 gnomAD v4
2g.48688192A=CA1248601027GTF2A1L,LHCGR,STON1-GTF2A1Lc.1605T= (p.Asn535=)
c.948-53T= (n.948-53T=)
c.3441+16512A= (n.3441+16512A=)
c.*349T= (n.*349T=)
c.1524T= (p.Asn508=)
c.276+16512A= (n.276+16512A=)
c.*220+6032T= (n.*220+6032T=)
c.648T= (p.Asn216=)
c.675T= (p.Asn225=)
c.1530T= (p.Asn510=)
c.1344T= (p.Asn448=)
c.1263T= (p.Asn421=)
c.969T= (p.Asn323=)
c.1350T= (p.Asn450=)
2g.48688192A>CCA346745906GTF2A1L,LHCGR,STON1-GTF2A1Lc.1605T>G (p.Asn535Lys)
c.948-53T>G (n.948-53T>G)
c.3441+16512A>C (n.3441+16512A>C)
c.*349T>G (n.*349T>G)
c.1524T>G (p.Asn508Lys)
c.276+16512A>C (n.276+16512A>C)
c.*220+6032T>G (n.*220+6032T>G)
c.648T>G (p.Asn216Lys)
c.675T>G (p.Asn225Lys)
c.1530T>G (p.Asn510Lys)
c.1344T>G (p.Asn448Lys)
c.1263T>G (p.Asn421Lys)
c.969T>G (p.Asn323Lys)
c.1350T>G (p.Asn450Lys)
 dbSNP
2g.48688192A>GCA426125255GTF2A1L,LHCGR,STON1-GTF2A1Lc.1605T>C (p.Asn535=)
c.948-53T>C (n.948-53T>C)
c.3441+16512A>G (n.3441+16512A>G)
c.*349T>C (n.*349T>C)
c.1524T>C (p.Asn508=)
c.276+16512A>G (n.276+16512A>G)
c.*220+6032T>C (n.*220+6032T>C)
c.648T>C (p.Asn216=)
c.675T>C (p.Asn225=)
c.1530T>C (p.Asn510=)
c.1344T>C (p.Asn448=)
c.1263T>C (p.Asn421=)
c.969T>C (p.Asn323=)
c.1350T>C (p.Asn450=)
 dbSNP gnomAD v2 gnomAD v4
2g.48688192A>TCA346745907GTF2A1L,LHCGR,STON1-GTF2A1Lc.1605T>A (p.Asn535Lys)
c.948-53T>A (n.948-53T>A)
c.3441+16512A>T (n.3441+16512A>T)
c.*349T>A (n.*349T>A)
c.1524T>A (p.Asn508Lys)
c.276+16512A>T (n.276+16512A>T)
c.*220+6032T>A (n.*220+6032T>A)
c.648T>A (p.Asn216Lys)
c.675T>A (p.Asn225Lys)
c.1530T>A (p.Asn510Lys)
c.1344T>A (p.Asn448Lys)
c.1263T>A (p.Asn421Lys)
c.969T>A (p.Asn323Lys)
c.1350T>A (p.Asn450Lys)
2g.48688193T>ACA346745909GTF2A1L,LHCGR,STON1-GTF2A1Lc.1604A>T (p.Asn535Ile)
c.948-54A>T (n.948-54A>T)
c.3441+16513T>A (n.3441+16513T>A)
c.*348A>T (n.*348A>T)
c.1523A>T (p.Asn508Ile)
c.276+16513T>A (n.276+16513T>A)
c.*220+6031A>T (n.*220+6031A>T)
c.647A>T (p.Asn216Ile)
c.674A>T (p.Asn225Ile)
c.1529A>T (p.Asn510Ile)
c.1343A>T (p.Asn448Ile)
c.1262A>T (p.Asn421Ile)
c.968A>T (p.Asn323Ile)
c.1349A>T (p.Asn450Ile)
2g.48688193T>CCA346745916GTF2A1L,LHCGR,STON1-GTF2A1Lc.1604A>G (p.Asn535Ser)
c.948-54A>G (n.948-54A>G)
c.3441+16513T>C (n.3441+16513T>C)
c.*348A>G (n.*348A>G)
c.1523A>G (p.Asn508Ser)
c.276+16513T>C (n.276+16513T>C)
c.*220+6031A>G (n.*220+6031A>G)
c.647A>G (p.Asn216Ser)
c.674A>G (p.Asn225Ser)
c.1529A>G (p.Asn510Ser)
c.1343A>G (p.Asn448Ser)
c.1262A>G (p.Asn421Ser)
c.968A>G (p.Asn323Ser)
c.1349A>G (p.Asn450Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688193T>GCA346745918GTF2A1L,LHCGR,STON1-GTF2A1Lc.1604A>C (p.Asn535Thr)
c.948-54A>C (n.948-54A>C)
c.3441+16513T>G (n.3441+16513T>G)
c.*348A>C (n.*348A>C)
c.1523A>C (p.Asn508Thr)
c.276+16513T>G (n.276+16513T>G)
c.*220+6031A>C (n.*220+6031A>C)
c.647A>C (p.Asn216Thr)
c.674A>C (p.Asn225Thr)
c.1529A>C (p.Asn510Thr)
c.1343A>C (p.Asn448Thr)
c.1262A>C (p.Asn421Thr)
c.968A>C (p.Asn323Thr)
c.1349A>C (p.Asn450Thr)
2g.48688193T=CA1248601028GTF2A1L,LHCGR,STON1-GTF2A1Lc.1604A= (p.Asn535=)
c.948-54A= (n.948-54A=)
c.3441+16513T= (n.3441+16513T=)
c.*348A= (n.*348A=)
c.1523A= (p.Asn508=)
c.276+16513T= (n.276+16513T=)
c.*220+6031A= (n.*220+6031A=)
c.647A= (p.Asn216=)
c.674A= (p.Asn225=)
c.1529A= (p.Asn510=)
c.1343A= (p.Asn448=)
c.1262A= (p.Asn421=)
c.968A= (p.Asn323=)
c.1349A= (p.Asn450=)
2g.48688194T>ACA346745924GTF2A1L,LHCGR,STON1-GTF2A1Lc.1603A>T (p.Asn535Tyr)
c.948-55A>T (n.948-55A>T)
c.3441+16514T>A (n.3441+16514T>A)
c.*347A>T (n.*347A>T)
c.1522A>T (p.Asn508Tyr)
c.276+16514T>A (n.276+16514T>A)
c.*220+6030A>T (n.*220+6030A>T)
c.646A>T (p.Asn216Tyr)
c.673A>T (p.Asn225Tyr)
c.1528A>T (p.Asn510Tyr)
c.1342A>T (p.Asn448Tyr)
c.1261A>T (p.Asn421Tyr)
c.967A>T (p.Asn323Tyr)
c.1348A>T (p.Asn450Tyr)
2g.48688194T>CCA346745922GTF2A1L,LHCGR,STON1-GTF2A1Lc.1603A>G (p.Asn535Asp)
c.948-55A>G (n.948-55A>G)
c.3441+16514T>C (n.3441+16514T>C)
c.*347A>G (n.*347A>G)
c.1522A>G (p.Asn508Asp)
c.276+16514T>C (n.276+16514T>C)
c.*220+6030A>G (n.*220+6030A>G)
c.646A>G (p.Asn216Asp)
c.673A>G (p.Asn225Asp)
c.1528A>G (p.Asn510Asp)
c.1342A>G (p.Asn448Asp)
c.1261A>G (p.Asn421Asp)
c.967A>G (p.Asn323Asp)
c.1348A>G (p.Asn450Asp)
2g.48688194T>GCA346745920GTF2A1L,LHCGR,STON1-GTF2A1Lc.1603A>C (p.Asn535His)
c.948-55A>C (n.948-55A>C)
c.3441+16514T>G (n.3441+16514T>G)
c.*347A>C (n.*347A>C)
c.1522A>C (p.Asn508His)
c.276+16514T>G (n.276+16514T>G)
c.*220+6030A>C (n.*220+6030A>C)
c.646A>C (p.Asn216His)
c.673A>C (p.Asn225His)
c.1528A>C (p.Asn510His)
c.1342A>C (p.Asn448His)
c.1261A>C (p.Asn421His)
c.967A>C (p.Asn323His)
c.1348A>C (p.Asn450His)
 gnomAD v4
2g.48688195G>ACA426125262GTF2A1L,LHCGR,STON1-GTF2A1Lc.1602C>T (p.Leu534=)
c.948-56C>T (n.948-56C>T)
c.3441+16515G>A (n.3441+16515G>A)
c.*346C>T (n.*346C>T)
c.1521C>T (p.Leu507=)
c.276+16515G>A (n.276+16515G>A)
c.*220+6029C>T (n.*220+6029C>T)
c.645C>T (p.Leu215=)
c.672C>T (p.Leu224=)
c.1527C>T (p.Leu509=)
c.1341C>T (p.Leu447=)
c.1260C>T (p.Leu420=)
c.966C>T (p.Leu322=)
c.1347C>T (p.Leu449=)
2g.48688195G>CCA426125267GTF2A1L,LHCGR,STON1-GTF2A1Lc.1602C>G (p.Leu534=)
c.948-56C>G (n.948-56C>G)
c.3441+16515G>C (n.3441+16515G>C)
c.*346C>G (n.*346C>G)
c.1521C>G (p.Leu507=)
c.276+16515G>C (n.276+16515G>C)
c.*220+6029C>G (n.*220+6029C>G)
c.645C>G (p.Leu215=)
c.672C>G (p.Leu224=)
c.1527C>G (p.Leu509=)
c.1341C>G (p.Leu447=)
c.1260C>G (p.Leu420=)
c.966C>G (p.Leu322=)
c.1347C>G (p.Leu449=)
2g.48688195G>TCA426125270GTF2A1L,LHCGR,STON1-GTF2A1Lc.1602C>A (p.Leu534=)
c.948-56C>A (n.948-56C>A)
c.3441+16515G>T (n.3441+16515G>T)
c.*346C>A (n.*346C>A)
c.1521C>A (p.Leu507=)
c.276+16515G>T (n.276+16515G>T)
c.*220+6029C>A (n.*220+6029C>A)
c.645C>A (p.Leu215=)
c.672C>A (p.Leu224=)
c.1527C>A (p.Leu509=)
c.1341C>A (p.Leu447=)
c.1260C>A (p.Leu420=)
c.966C>A (p.Leu322=)
c.1347C>A (p.Leu449=)
2g.48688196A>CCA346745926GTF2A1L,LHCGR,STON1-GTF2A1Lc.1601T>G (p.Leu534Arg)
c.948-57T>G (n.948-57T>G)
c.3441+16516A>C (n.3441+16516A>C)
c.*345T>G (n.*345T>G)
c.1520T>G (p.Leu507Arg)
c.276+16516A>C (n.276+16516A>C)
c.*220+6028T>G (n.*220+6028T>G)
c.644T>G (p.Leu215Arg)
c.671T>G (p.Leu224Arg)
c.1526T>G (p.Leu509Arg)
c.1340T>G (p.Leu447Arg)
c.1259T>G (p.Leu420Arg)
c.965T>G (p.Leu322Arg)
c.1346T>G (p.Leu449Arg)
2g.48688196A>GCA346745928GTF2A1L,LHCGR,STON1-GTF2A1Lc.1601T>C (p.Leu534Pro)
c.948-57T>C (n.948-57T>C)
c.3441+16516A>G (n.3441+16516A>G)
c.*345T>C (n.*345T>C)
c.1520T>C (p.Leu507Pro)
c.276+16516A>G (n.276+16516A>G)
c.*220+6028T>C (n.*220+6028T>C)
c.644T>C (p.Leu215Pro)
c.671T>C (p.Leu224Pro)
c.1526T>C (p.Leu509Pro)
c.1340T>C (p.Leu447Pro)
c.1259T>C (p.Leu420Pro)
c.965T>C (p.Leu322Pro)
c.1346T>C (p.Leu449Pro)
2g.48688196A>TCA346745933GTF2A1L,LHCGR,STON1-GTF2A1Lc.1601T>A (p.Leu534His)
c.948-57T>A (n.948-57T>A)
c.3441+16516A>T (n.3441+16516A>T)
c.*345T>A (n.*345T>A)
c.1520T>A (p.Leu507His)
c.276+16516A>T (n.276+16516A>T)
c.*220+6028T>A (n.*220+6028T>A)
c.644T>A (p.Leu215His)
c.671T>A (p.Leu224His)
c.1526T>A (p.Leu509His)
c.1340T>A (p.Leu447His)
c.1259T>A (p.Leu420His)
c.965T>A (p.Leu322His)
c.1346T>A (p.Leu449His)
2g.48688197G>ACA1653012GTF2A1L,LHCGR,STON1-GTF2A1Lc.1600C>T (p.Leu534Phe)
c.948-58C>T (n.948-58C>T)
c.3441+16517G>A (n.3441+16517G>A)
c.*344C>T (n.*344C>T)
c.1519C>T (p.Leu507Phe)
c.276+16517G>A (n.276+16517G>A)
c.*220+6027C>T (n.*220+6027C>T)
c.643C>T (p.Leu215Phe)
c.670C>T (p.Leu224Phe)
c.1525C>T (p.Leu509Phe)
c.1339C>T (p.Leu447Phe)
c.1258C>T (p.Leu420Phe)
c.964C>T (p.Leu322Phe)
c.1345C>T (p.Leu449Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688197G>CCA346745936GTF2A1L,LHCGR,STON1-GTF2A1Lc.1600C>G (p.Leu534Val)
c.948-58C>G (n.948-58C>G)
c.3441+16517G>C (n.3441+16517G>C)
c.*344C>G (n.*344C>G)
c.1519C>G (p.Leu507Val)
c.276+16517G>C (n.276+16517G>C)
c.*220+6027C>G (n.*220+6027C>G)
c.643C>G (p.Leu215Val)
c.670C>G (p.Leu224Val)
c.1525C>G (p.Leu509Val)
c.1339C>G (p.Leu447Val)
c.1258C>G (p.Leu420Val)
c.964C>G (p.Leu322Val)
c.1345C>G (p.Leu449Val)
2g.48688197G=CA1248601029GTF2A1L,LHCGR,STON1-GTF2A1Lc.1600C= (p.Leu534=)
c.948-58C= (n.948-58C=)
c.3441+16517G= (n.3441+16517G=)
c.*344C= (n.*344C=)
c.1519C= (p.Leu507=)
c.276+16517G= (n.276+16517G=)
c.*220+6027C= (n.*220+6027C=)
c.643C= (p.Leu215=)
c.670C= (p.Leu224=)
c.1525C= (p.Leu509=)
c.1339C= (p.Leu447=)
c.1258C= (p.Leu420=)
c.964C= (p.Leu322=)
c.1345C= (p.Leu449=)
2g.48688197G>TCA346745937GTF2A1L,LHCGR,STON1-GTF2A1Lc.1600C>A (p.Leu534Ile)
c.948-58C>A (n.948-58C>A)
c.3441+16517G>T (n.3441+16517G>T)
c.*344C>A (n.*344C>A)
c.1519C>A (p.Leu507Ile)
c.276+16517G>T (n.276+16517G>T)
c.*220+6027C>A (n.*220+6027C>A)
c.643C>A (p.Leu215Ile)
c.670C>A (p.Leu224Ile)
c.1525C>A (p.Leu509Ile)
c.1339C>A (p.Leu447Ile)
c.1258C>A (p.Leu420Ile)
c.964C>A (p.Leu322Ile)
c.1345C>A (p.Leu449Ile)
2g.48688198A>CCA346745938GTF2A1L,LHCGR,STON1-GTF2A1Lc.1599T>G (p.Ile533Met)
c.948-59T>G (n.948-59T>G)
c.3441+16518A>C (n.3441+16518A>C)
c.*343T>G (n.*343T>G)
c.1518T>G (p.Ile506Met)
c.276+16518A>C (n.276+16518A>C)
c.*220+6026T>G (n.*220+6026T>G)
c.642T>G (p.Ile214Met)
c.669T>G (p.Ile223Met)
c.1524T>G (p.Ile508Met)
c.1338T>G (p.Ile446Met)
c.1257T>G (p.Ile419Met)
c.963T>G (p.Ile321Met)
c.1344T>G (p.Ile448Met)
2g.48688198A>GCA426125277GTF2A1L,LHCGR,STON1-GTF2A1Lc.1599T>C (p.Ile533=)
c.948-59T>C (n.948-59T>C)
c.3441+16518A>G (n.3441+16518A>G)
c.*343T>C (n.*343T>C)
c.1518T>C (p.Ile506=)
c.276+16518A>G (n.276+16518A>G)
c.*220+6026T>C (n.*220+6026T>C)
c.642T>C (p.Ile214=)
c.669T>C (p.Ile223=)
c.1524T>C (p.Ile508=)
c.1338T>C (p.Ile446=)
c.1257T>C (p.Ile419=)
c.963T>C (p.Ile321=)
c.1344T>C (p.Ile448=)
2g.48688198A>TCA426125279GTF2A1L,LHCGR,STON1-GTF2A1Lc.1599T>A (p.Ile533=)
c.948-59T>A (n.948-59T>A)
c.3441+16518A>T (n.3441+16518A>T)
c.*343T>A (n.*343T>A)
c.1518T>A (p.Ile506=)
c.276+16518A>T (n.276+16518A>T)
c.*220+6026T>A (n.*220+6026T>A)
c.642T>A (p.Ile214=)
c.669T>A (p.Ile223=)
c.1524T>A (p.Ile508=)
c.1338T>A (p.Ile446=)
c.1257T>A (p.Ile419=)
c.963T>A (p.Ile321=)
c.1344T>A (p.Ile448=)
2g.48688199A>CCA346745940GTF2A1L,LHCGR,STON1-GTF2A1Lc.1598T>G (p.Ile533Ser)
c.948-60T>G (n.948-60T>G)
c.3441+16519A>C (n.3441+16519A>C)
c.*342T>G (n.*342T>G)
c.1517T>G (p.Ile506Ser)
c.276+16519A>C (n.276+16519A>C)
c.*220+6025T>G (n.*220+6025T>G)
c.641T>G (p.Ile214Ser)
c.668T>G (p.Ile223Ser)
c.1523T>G (p.Ile508Ser)
c.1337T>G (p.Ile446Ser)
c.1256T>G (p.Ile419Ser)
c.962T>G (p.Ile321Ser)
c.1343T>G (p.Ile448Ser)
2g.48688199A>GCA346745942GTF2A1L,LHCGR,STON1-GTF2A1Lc.1598T>C (p.Ile533Thr)
c.948-60T>C (n.948-60T>C)
c.3441+16519A>G (n.3441+16519A>G)
c.*342T>C (n.*342T>C)
c.1517T>C (p.Ile506Thr)
c.276+16519A>G (n.276+16519A>G)
c.*220+6025T>C (n.*220+6025T>C)
c.641T>C (p.Ile214Thr)
c.668T>C (p.Ile223Thr)
c.1523T>C (p.Ile508Thr)
c.1337T>C (p.Ile446Thr)
c.1256T>C (p.Ile419Thr)
c.962T>C (p.Ile321Thr)
c.1343T>C (p.Ile448Thr)
2g.48688199A>TCA346745945GTF2A1L,LHCGR,STON1-GTF2A1Lc.1598T>A (p.Ile533Asn)
c.948-60T>A (n.948-60T>A)
c.3441+16519A>T (n.3441+16519A>T)
c.*342T>A (n.*342T>A)
c.1517T>A (p.Ile506Asn)
c.276+16519A>T (n.276+16519A>T)
c.*220+6025T>A (n.*220+6025T>A)
c.641T>A (p.Ile214Asn)
c.668T>A (p.Ile223Asn)
c.1523T>A (p.Ile508Asn)
c.1337T>A (p.Ile446Asn)
c.1256T>A (p.Ile419Asn)
c.962T>A (p.Ile321Asn)
c.1343T>A (p.Ile448Asn)
2g.48688200T>ACA346745950GTF2A1L,LHCGR,STON1-GTF2A1Lc.1597A>T (p.Ile533Phe)
c.948-61A>T (n.948-61A>T)
c.3441+16520T>A (n.3441+16520T>A)
c.*341A>T (n.*341A>T)
c.1516A>T (p.Ile506Phe)
c.276+16520T>A (n.276+16520T>A)
c.*220+6024A>T (n.*220+6024A>T)
c.640A>T (p.Ile214Phe)
c.667A>T (p.Ile223Phe)
c.1522A>T (p.Ile508Phe)
c.1336A>T (p.Ile446Phe)
c.1255A>T (p.Ile419Phe)
c.961A>T (p.Ile321Phe)
c.1342A>T (p.Ile448Phe)
2g.48688200T>CCA346745965GTF2A1L,LHCGR,STON1-GTF2A1Lc.1597A>G (p.Ile533Val)
c.948-61A>G (n.948-61A>G)
c.3441+16520T>C (n.3441+16520T>C)
c.*341A>G (n.*341A>G)
c.1516A>G (p.Ile506Val)
c.276+16520T>C (n.276+16520T>C)
c.*220+6024A>G (n.*220+6024A>G)
c.640A>G (p.Ile214Val)
c.667A>G (p.Ile223Val)
c.1522A>G (p.Ile508Val)
c.1336A>G (p.Ile446Val)
c.1255A>G (p.Ile419Val)
c.961A>G (p.Ile321Val)
c.1342A>G (p.Ile448Val)
2g.48688200T>GCA346745975GTF2A1L,LHCGR,STON1-GTF2A1Lc.1597A>C (p.Ile533Leu)
c.948-61A>C (n.948-61A>C)
c.3441+16520T>G (n.3441+16520T>G)
c.*341A>C (n.*341A>C)
c.1516A>C (p.Ile506Leu)
c.276+16520T>G (n.276+16520T>G)
c.*220+6024A>C (n.*220+6024A>C)
c.640A>C (p.Ile214Leu)
c.667A>C (p.Ile223Leu)
c.1522A>C (p.Ile508Leu)
c.1336A>C (p.Ile446Leu)
c.1255A>C (p.Ile419Leu)
c.961A>C (p.Ile321Leu)
c.1342A>C (p.Ile448Leu)
2g.48688201C>ACA426125288GTF2A1L,LHCGR,STON1-GTF2A1Lc.1596G>T (p.Leu532=)
c.948-62G>T (n.948-62G>T)
c.3441+16521C>A (n.3441+16521C>A)
c.*340G>T (n.*340G>T)
c.1515G>T (p.Leu505=)
c.276+16521C>A (n.276+16521C>A)
c.*220+6023G>T (n.*220+6023G>T)
c.639G>T (p.Leu213=)
c.666G>T (p.Leu222=)
c.1521G>T (p.Leu507=)
c.1335G>T (p.Leu445=)
c.1254G>T (p.Leu418=)
c.960G>T (p.Leu320=)
c.1341G>T (p.Leu447=)
 dbSNP gnomAD v3 gnomAD v4
2g.48688201C=CA1248601030GTF2A1L,LHCGR,STON1-GTF2A1Lc.1596G= (p.Leu532=)
c.948-62G= (n.948-62G=)
c.3441+16521C= (n.3441+16521C=)
c.*340G= (n.*340G=)
c.1515G= (p.Leu505=)
c.276+16521C= (n.276+16521C=)
c.*220+6023G= (n.*220+6023G=)
c.639G= (p.Leu213=)
c.666G= (p.Leu222=)
c.1521G= (p.Leu507=)
c.1335G= (p.Leu445=)
c.1254G= (p.Leu418=)
c.960G= (p.Leu320=)
c.1341G= (p.Leu447=)
2g.48688201C>GCA426125290GTF2A1L,LHCGR,STON1-GTF2A1Lc.1596G>C (p.Leu532=)
c.948-62G>C (n.948-62G>C)
c.3441+16521C>G (n.3441+16521C>G)
c.*340G>C (n.*340G>C)
c.1515G>C (p.Leu505=)
c.276+16521C>G (n.276+16521C>G)
c.*220+6023G>C (n.*220+6023G>C)
c.639G>C (p.Leu213=)
c.666G>C (p.Leu222=)
c.1521G>C (p.Leu507=)
c.1335G>C (p.Leu445=)
c.1254G>C (p.Leu418=)
c.960G>C (p.Leu320=)
c.1341G>C (p.Leu447=)
2g.48688201C>TCA426125292GTF2A1L,LHCGR,STON1-GTF2A1Lc.1596G>A (p.Leu532=)
c.948-62G>A (n.948-62G>A)
c.3441+16521C>T (n.3441+16521C>T)
c.*340G>A (n.*340G>A)
c.1515G>A (p.Leu505=)
c.276+16521C>T (n.276+16521C>T)
c.*220+6023G>A (n.*220+6023G>A)
c.639G>A (p.Leu213=)
c.666G>A (p.Leu222=)
c.1521G>A (p.Leu507=)
c.1335G>A (p.Leu445=)
c.1254G>A (p.Leu418=)
c.960G>A (p.Leu320=)
c.1341G>A (p.Leu447=)
2g.48688202A>CCA346745987GTF2A1L,LHCGR,STON1-GTF2A1Lc.1595T>G (p.Leu532Arg)
c.948-63T>G (n.948-63T>G)
c.3441+16522A>C (n.3441+16522A>C)
c.*339T>G (n.*339T>G)
c.1514T>G (p.Leu505Arg)
c.276+16522A>C (n.276+16522A>C)
c.*220+6022T>G (n.*220+6022T>G)
c.638T>G (p.Leu213Arg)
c.665T>G (p.Leu222Arg)
c.1520T>G (p.Leu507Arg)
c.1334T>G (p.Leu445Arg)
c.1253T>G (p.Leu418Arg)
c.959T>G (p.Leu320Arg)
c.1340T>G (p.Leu447Arg)
2g.48688202A>GCA346745988GTF2A1L,LHCGR,STON1-GTF2A1Lc.1595T>C (p.Leu532Pro)
c.948-63T>C (n.948-63T>C)
c.3441+16522A>G (n.3441+16522A>G)
c.*339T>C (n.*339T>C)
c.1514T>C (p.Leu505Pro)
c.276+16522A>G (n.276+16522A>G)
c.*220+6022T>C (n.*220+6022T>C)
c.638T>C (p.Leu213Pro)
c.665T>C (p.Leu222Pro)
c.1520T>C (p.Leu507Pro)
c.1334T>C (p.Leu445Pro)
c.1253T>C (p.Leu418Pro)
c.959T>C (p.Leu320Pro)
c.1340T>C (p.Leu447Pro)
 gnomAD v4
2g.48688202A>TCA346745984GTF2A1L,LHCGR,STON1-GTF2A1Lc.1595T>A (p.Leu532Gln)
c.948-63T>A (n.948-63T>A)
c.3441+16522A>T (n.3441+16522A>T)
c.*339T>A (n.*339T>A)
c.1514T>A (p.Leu505Gln)
c.276+16522A>T (n.276+16522A>T)
c.*220+6022T>A (n.*220+6022T>A)
c.638T>A (p.Leu213Gln)
c.665T>A (p.Leu222Gln)
c.1520T>A (p.Leu507Gln)
c.1334T>A (p.Leu445Gln)
c.1253T>A (p.Leu418Gln)
c.959T>A (p.Leu320Gln)
c.1340T>A (p.Leu447Gln)
2g.48688203G>ACA426125299GTF2A1L,LHCGR,STON1-GTF2A1Lc.1594C>T (p.Leu532=)
c.948-64C>T (n.948-64C>T)
c.3441+16523G>A (n.3441+16523G>A)
c.*338C>T (n.*338C>T)
c.1513C>T (p.Leu505=)
c.276+16523G>A (n.276+16523G>A)
c.*220+6021C>T (n.*220+6021C>T)
c.637C>T (p.Leu213=)
c.664C>T (p.Leu222=)
c.1519C>T (p.Leu507=)
c.1333C>T (p.Leu445=)
c.1252C>T (p.Leu418=)
c.958C>T (p.Leu320=)
c.1339C>T (p.Leu447=)
 gnomAD v4
2g.48688203G>CCA346745990GTF2A1L,LHCGR,STON1-GTF2A1Lc.1594C>G (p.Leu532Val)
c.948-64C>G (n.948-64C>G)
c.3441+16523G>C (n.3441+16523G>C)
c.*338C>G (n.*338C>G)
c.1513C>G (p.Leu505Val)
c.276+16523G>C (n.276+16523G>C)
c.*220+6021C>G (n.*220+6021C>G)
c.637C>G (p.Leu213Val)
c.664C>G (p.Leu222Val)
c.1519C>G (p.Leu507Val)
c.1333C>G (p.Leu445Val)
c.1252C>G (p.Leu418Val)
c.958C>G (p.Leu320Val)
c.1339C>G (p.Leu447Val)
2g.48688203G>TCA346745992GTF2A1L,LHCGR,STON1-GTF2A1Lc.1594C>A (p.Leu532Met)
c.948-64C>A (n.948-64C>A)
c.3441+16523G>T (n.3441+16523G>T)
c.*338C>A (n.*338C>A)
c.1513C>A (p.Leu505Met)
c.276+16523G>T (n.276+16523G>T)
c.*220+6021C>A (n.*220+6021C>A)
c.637C>A (p.Leu213Met)
c.664C>A (p.Leu222Met)
c.1519C>A (p.Leu507Met)
c.1333C>A (p.Leu445Met)
c.1252C>A (p.Leu418Met)
c.958C>A (p.Leu320Met)
c.1339C>A (p.Leu447Met)
2g.48688204G>ACA426125304GTF2A1L,LHCGR,STON1-GTF2A1Lc.1593C>T (p.Ile531=)
c.948-65C>T (n.948-65C>T)
c.3441+16524G>A (n.3441+16524G>A)
c.*337C>T (n.*337C>T)
c.1512C>T (p.Ile504=)
c.276+16524G>A (n.276+16524G>A)
c.*220+6020C>T (n.*220+6020C>T)
c.636C>T (p.Ile212=)
c.663C>T (p.Ile221=)
c.1518C>T (p.Ile506=)
c.1332C>T (p.Ile444=)
c.1251C>T (p.Ile417=)
c.957C>T (p.Ile319=)
c.1338C>T (p.Ile446=)
 gnomAD v4
2g.48688204G>CCA346746000GTF2A1L,LHCGR,STON1-GTF2A1Lc.1593C>G (p.Ile531Met)
c.948-65C>G (n.948-65C>G)
c.3441+16524G>C (n.3441+16524G>C)
c.*337C>G (n.*337C>G)
c.1512C>G (p.Ile504Met)
c.276+16524G>C (n.276+16524G>C)
c.*220+6020C>G (n.*220+6020C>G)
c.636C>G (p.Ile212Met)
c.663C>G (p.Ile221Met)
c.1518C>G (p.Ile506Met)
c.1332C>G (p.Ile444Met)
c.1251C>G (p.Ile417Met)
c.957C>G (p.Ile319Met)
c.1338C>G (p.Ile446Met)
2g.48688204G>TCA426125303GTF2A1L,LHCGR,STON1-GTF2A1Lc.1593C>A (p.Ile531=)
c.948-65C>A (n.948-65C>A)
c.3441+16524G>T (n.3441+16524G>T)
c.*337C>A (n.*337C>A)
c.1512C>A (p.Ile504=)
c.276+16524G>T (n.276+16524G>T)
c.*220+6020C>A (n.*220+6020C>A)
c.636C>A (p.Ile212=)
c.663C>A (p.Ile221=)
c.1518C>A (p.Ile506=)
c.1332C>A (p.Ile444=)
c.1251C>A (p.Ile417=)
c.957C>A (p.Ile319=)
c.1338C>A (p.Ile446=)
2g.48688205A>CCA346746003GTF2A1L,LHCGR,STON1-GTF2A1Lc.1592T>G (p.Ile531Ser)
c.948-66T>G (n.948-66T>G)
c.3441+16525A>C (n.3441+16525A>C)
c.*336T>G (n.*336T>G)
c.1511T>G (p.Ile504Ser)
c.276+16525A>C (n.276+16525A>C)
c.*220+6019T>G (n.*220+6019T>G)
c.635T>G (p.Ile212Ser)
c.662T>G (p.Ile221Ser)
c.1517T>G (p.Ile506Ser)
c.1331T>G (p.Ile444Ser)
c.1250T>G (p.Ile417Ser)
c.956T>G (p.Ile319Ser)
c.1337T>G (p.Ile446Ser)
2g.48688205A>GCA346746004GTF2A1L,LHCGR,STON1-GTF2A1Lc.1592T>C (p.Ile531Thr)
c.948-66T>C (n.948-66T>C)
c.3441+16525A>G (n.3441+16525A>G)
c.*336T>C (n.*336T>C)
c.1511T>C (p.Ile504Thr)
c.276+16525A>G (n.276+16525A>G)
c.*220+6019T>C (n.*220+6019T>C)
c.635T>C (p.Ile212Thr)
c.662T>C (p.Ile221Thr)
c.1517T>C (p.Ile506Thr)
c.1331T>C (p.Ile444Thr)
c.1250T>C (p.Ile417Thr)
c.956T>C (p.Ile319Thr)
c.1337T>C (p.Ile446Thr)
2g.48688205A>TCA346746005GTF2A1L,LHCGR,STON1-GTF2A1Lc.1592T>A (p.Ile531Asn)
c.948-66T>A (n.948-66T>A)
c.3441+16525A>T (n.3441+16525A>T)
c.*336T>A (n.*336T>A)
c.1511T>A (p.Ile504Asn)
c.276+16525A>T (n.276+16525A>T)
c.*220+6019T>A (n.*220+6019T>A)
c.635T>A (p.Ile212Asn)
c.662T>A (p.Ile221Asn)
c.1517T>A (p.Ile506Asn)
c.1331T>A (p.Ile444Asn)
c.1250T>A (p.Ile417Asn)
c.956T>A (p.Ile319Asn)
c.1337T>A (p.Ile446Asn)
2g.48688206T>ACA346746006GTF2A1L,LHCGR,STON1-GTF2A1Lc.1591A>T (p.Ile531Phe)
c.948-67A>T (n.948-67A>T)
c.3441+16526T>A (n.3441+16526T>A)
c.*335A>T (n.*335A>T)
c.1510A>T (p.Ile504Phe)
c.276+16526T>A (n.276+16526T>A)
c.*220+6018A>T (n.*220+6018A>T)
c.634A>T (p.Ile212Phe)
c.661A>T (p.Ile221Phe)
c.1516A>T (p.Ile506Phe)
c.1330A>T (p.Ile444Phe)
c.1249A>T (p.Ile417Phe)
c.955A>T (p.Ile319Phe)
c.1336A>T (p.Ile446Phe)
2g.48688206T>CCA346746008GTF2A1L,LHCGR,STON1-GTF2A1Lc.1591A>G (p.Ile531Val)
c.948-67A>G (n.948-67A>G)
c.3441+16526T>C (n.3441+16526T>C)
c.*335A>G (n.*335A>G)
c.1510A>G (p.Ile504Val)
c.276+16526T>C (n.276+16526T>C)
c.*220+6018A>G (n.*220+6018A>G)
c.634A>G (p.Ile212Val)
c.661A>G (p.Ile221Val)
c.1516A>G (p.Ile506Val)
c.1330A>G (p.Ile444Val)
c.1249A>G (p.Ile417Val)
c.955A>G (p.Ile319Val)
c.1336A>G (p.Ile446Val)
 dbSNP
2g.48688206T>GCA346746009GTF2A1L,LHCGR,STON1-GTF2A1Lc.1591A>C (p.Ile531Leu)
c.948-67A>C (n.948-67A>C)
c.3441+16526T>G (n.3441+16526T>G)
c.*335A>C (n.*335A>C)
c.1510A>C (p.Ile504Leu)
c.276+16526T>G (n.276+16526T>G)
c.*220+6018A>C (n.*220+6018A>C)
c.634A>C (p.Ile212Leu)
c.661A>C (p.Ile221Leu)
c.1516A>C (p.Ile506Leu)
c.1330A>C (p.Ile444Leu)
c.1249A>C (p.Ile417Leu)
c.955A>C (p.Ile319Leu)
c.1336A>C (p.Ile446Leu)
2g.48688206T=CA1248601031GTF2A1L,LHCGR,STON1-GTF2A1Lc.1591A= (p.Ile531=)
c.948-67A= (n.948-67A=)
c.3441+16526T= (n.3441+16526T=)
c.*335A= (n.*335A=)
c.1510A= (p.Ile504=)
c.276+16526T= (n.276+16526T=)
c.*220+6018A= (n.*220+6018A=)
c.634A= (p.Ile212=)
c.661A= (p.Ile221=)
c.1516A= (p.Ile506=)
c.1330A= (p.Ile444=)
c.1249A= (p.Ile417=)
c.955A= (p.Ile319=)
c.1336A= (p.Ile446=)
2g.48688207G>ACA426125307GTF2A1L,LHCGR,STON1-GTF2A1Lc.1590C>T (p.Thr530=)
c.948-68C>T (n.948-68C>T)
c.3441+16527G>A (n.3441+16527G>A)
c.*334C>T (n.*334C>T)
c.1509C>T (p.Thr503=)
c.276+16527G>A (n.276+16527G>A)
c.*220+6017C>T (n.*220+6017C>T)
c.633C>T (p.Thr211=)
c.660C>T (p.Thr220=)
c.1515C>T (p.Thr505=)
c.1329C>T (p.Thr443=)
c.1248C>T (p.Thr416=)
c.954C>T (p.Thr318=)
c.1335C>T (p.Thr445=)
2g.48688207G>CCA426125309GTF2A1L,LHCGR,STON1-GTF2A1Lc.1590C>G (p.Thr530=)
c.948-68C>G (n.948-68C>G)
c.3441+16527G>C (n.3441+16527G>C)
c.*334C>G (n.*334C>G)
c.1509C>G (p.Thr503=)
c.276+16527G>C (n.276+16527G>C)
c.*220+6017C>G (n.*220+6017C>G)
c.633C>G (p.Thr211=)
c.660C>G (p.Thr220=)
c.1515C>G (p.Thr505=)
c.1329C>G (p.Thr443=)
c.1248C>G (p.Thr416=)
c.954C>G (p.Thr318=)
c.1335C>G (p.Thr445=)
2g.48688207G=CA1248601032GTF2A1L,LHCGR,STON1-GTF2A1Lc.1590C= (p.Thr530=)
c.948-68C= (n.948-68C=)
c.3441+16527G= (n.3441+16527G=)
c.*334C= (n.*334C=)
c.1509C= (p.Thr503=)
c.276+16527G= (n.276+16527G=)
c.*220+6017C= (n.*220+6017C=)
c.633C= (p.Thr211=)
c.660C= (p.Thr220=)
c.1515C= (p.Thr505=)
c.1329C= (p.Thr443=)
c.1248C= (p.Thr416=)
c.954C= (p.Thr318=)
c.1335C= (p.Thr445=)
2g.48688207G>TCA426125310GTF2A1L,LHCGR,STON1-GTF2A1Lc.1590C>A (p.Thr530=)
c.948-68C>A (n.948-68C>A)
c.3441+16527G>T (n.3441+16527G>T)
c.*334C>A (n.*334C>A)
c.1509C>A (p.Thr503=)
c.276+16527G>T (n.276+16527G>T)
c.*220+6017C>A (n.*220+6017C>A)
c.633C>A (p.Thr211=)
c.660C>A (p.Thr220=)
c.1515C>A (p.Thr505=)
c.1329C>A (p.Thr443=)
c.1248C>A (p.Thr416=)
c.954C>A (p.Thr318=)
c.1335C>A (p.Thr445=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.48688208G>ACA1653013GTF2A1L,LHCGR,STON1-GTF2A1Lc.1589C>T (p.Thr530Ile)
c.948-69C>T (n.948-69C>T)
c.3441+16528G>A (n.3441+16528G>A)
c.*333C>T (n.*333C>T)
c.1508C>T (p.Thr503Ile)
c.276+16528G>A (n.276+16528G>A)
c.*220+6016C>T (n.*220+6016C>T)
c.632C>T (p.Thr211Ile)
c.659C>T (p.Thr220Ile)
c.1514C>T (p.Thr505Ile)
c.1328C>T (p.Thr443Ile)
c.1247C>T (p.Thr416Ile)
c.953C>T (p.Thr318Ile)
c.1334C>T (p.Thr445Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688208G>CCA346746019GTF2A1L,LHCGR,STON1-GTF2A1Lc.1589C>G (p.Thr530Ser)
c.948-69C>G (n.948-69C>G)
c.3441+16528G>C (n.3441+16528G>C)
c.*333C>G (n.*333C>G)
c.1508C>G (p.Thr503Ser)
c.276+16528G>C (n.276+16528G>C)
c.*220+6016C>G (n.*220+6016C>G)
c.632C>G (p.Thr211Ser)
c.659C>G (p.Thr220Ser)
c.1514C>G (p.Thr505Ser)
c.1328C>G (p.Thr443Ser)
c.1247C>G (p.Thr416Ser)
c.953C>G (p.Thr318Ser)
c.1334C>G (p.Thr445Ser)
2g.48688208G=CA1248601033GTF2A1L,LHCGR,STON1-GTF2A1Lc.1589C= (p.Thr530=)
c.948-69C= (n.948-69C=)
c.3441+16528G= (n.3441+16528G=)
c.*333C= (n.*333C=)
c.1508C= (p.Thr503=)
c.276+16528G= (n.276+16528G=)
c.*220+6016C= (n.*220+6016C=)
c.632C= (p.Thr211=)
c.659C= (p.Thr220=)
c.1514C= (p.Thr505=)
c.1328C= (p.Thr443=)
c.1247C= (p.Thr416=)
c.953C= (p.Thr318=)
c.1334C= (p.Thr445=)
2g.48688208G>TCA346746021GTF2A1L,LHCGR,STON1-GTF2A1Lc.1589C>A (p.Thr530Asn)
c.948-69C>A (n.948-69C>A)
c.3441+16528G>T (n.3441+16528G>T)
c.*333C>A (n.*333C>A)
c.1508C>A (p.Thr503Asn)
c.276+16528G>T (n.276+16528G>T)
c.*220+6016C>A (n.*220+6016C>A)
c.632C>A (p.Thr211Asn)
c.659C>A (p.Thr220Asn)
c.1514C>A (p.Thr505Asn)
c.1328C>A (p.Thr443Asn)
c.1247C>A (p.Thr416Asn)
c.953C>A (p.Thr318Asn)
c.1334C>A (p.Thr445Asn)
2g.48688209T>ACA346746034GTF2A1L,LHCGR,STON1-GTF2A1Lc.1588A>T (p.Thr530Ser)
c.948-70A>T (n.948-70A>T)
c.3441+16529T>A (n.3441+16529T>A)
c.*332A>T (n.*332A>T)
c.1507A>T (p.Thr503Ser)
c.276+16529T>A (n.276+16529T>A)
c.*220+6015A>T (n.*220+6015A>T)
c.631A>T (p.Thr211Ser)
c.658A>T (p.Thr220Ser)
c.1513A>T (p.Thr505Ser)
c.1327A>T (p.Thr443Ser)
c.1246A>T (p.Thr416Ser)
c.952A>T (p.Thr318Ser)
c.1333A>T (p.Thr445Ser)
2g.48688209T>CCA346746027GTF2A1L,LHCGR,STON1-GTF2A1Lc.1588A>G (p.Thr530Ala)
c.948-70A>G (n.948-70A>G)
c.3441+16529T>C (n.3441+16529T>C)
c.*332A>G (n.*332A>G)
c.1507A>G (p.Thr503Ala)
c.276+16529T>C (n.276+16529T>C)
c.*220+6015A>G (n.*220+6015A>G)
c.631A>G (p.Thr211Ala)
c.658A>G (p.Thr220Ala)
c.1513A>G (p.Thr505Ala)
c.1327A>G (p.Thr443Ala)
c.1246A>G (p.Thr416Ala)
c.952A>G (p.Thr318Ala)
c.1333A>G (p.Thr445Ala)
2g.48688209T>GCA46752898GTF2A1L,LHCGR,STON1-GTF2A1Lc.1588A>C (p.Thr530Pro)
c.948-70A>C (n.948-70A>C)
c.3441+16529T>G (n.3441+16529T>G)
c.*332A>C (n.*332A>C)
c.1507A>C (p.Thr503Pro)
c.276+16529T>G (n.276+16529T>G)
c.*220+6015A>C (n.*220+6015A>C)
c.631A>C (p.Thr211Pro)
c.658A>C (p.Thr220Pro)
c.1513A>C (p.Thr505Pro)
c.1327A>C (p.Thr443Pro)
c.1246A>C (p.Thr416Pro)
c.952A>C (p.Thr318Pro)
c.1333A>C (p.Thr445Pro)
 dbSNP COSMIC
2g.48688209T=CA1248601034GTF2A1L,LHCGR,STON1-GTF2A1Lc.1588A= (p.Thr530=)
c.948-70A= (n.948-70A=)
c.3441+16529T= (n.3441+16529T=)
c.*332A= (n.*332A=)
c.1507A= (p.Thr503=)
c.276+16529T= (n.276+16529T=)
c.*220+6015A= (n.*220+6015A=)
c.631A= (p.Thr211=)
c.658A= (p.Thr220=)
c.1513A= (p.Thr505=)
c.1327A= (p.Thr443=)
c.1246A= (p.Thr416=)
c.952A= (p.Thr318=)
c.1333A= (p.Thr445=)
2g.48688210T>ACA346746035GTF2A1L,LHCGR,STON1-GTF2A1Lc.1587A>T (p.Leu529Phe)
c.948-71A>T (n.948-71A>T)
c.3441+16530T>A (n.3441+16530T>A)
c.*331A>T (n.*331A>T)
c.1506A>T (p.Leu502Phe)
c.276+16530T>A (n.276+16530T>A)
c.*220+6014A>T (n.*220+6014A>T)
c.630A>T (p.Leu210Phe)
c.657A>T (p.Leu219Phe)
c.1512A>T (p.Leu504Phe)
c.1326A>T (p.Leu442Phe)
c.1245A>T (p.Leu415Phe)
c.951A>T (p.Leu317Phe)
c.1332A>T (p.Leu444Phe)
2g.48688210T>CCA426125318GTF2A1L,LHCGR,STON1-GTF2A1Lc.1587A>G (p.Leu529=)
c.948-71A>G (n.948-71A>G)
c.3441+16530T>C (n.3441+16530T>C)
c.*331A>G (n.*331A>G)
c.1506A>G (p.Leu502=)
c.276+16530T>C (n.276+16530T>C)
c.*220+6014A>G (n.*220+6014A>G)
c.630A>G (p.Leu210=)
c.657A>G (p.Leu219=)
c.1512A>G (p.Leu504=)
c.1326A>G (p.Leu442=)
c.1245A>G (p.Leu415=)
c.951A>G (p.Leu317=)
c.1332A>G (p.Leu444=)
 COSMIC
2g.48688210T>GCA346746041GTF2A1L,LHCGR,STON1-GTF2A1Lc.1587A>C (p.Leu529Phe)
c.948-71A>C (n.948-71A>C)
c.3441+16530T>G (n.3441+16530T>G)
c.*331A>C (n.*331A>C)
c.1506A>C (p.Leu502Phe)
c.276+16530T>G (n.276+16530T>G)
c.*220+6014A>C (n.*220+6014A>C)
c.630A>C (p.Leu210Phe)
c.657A>C (p.Leu219Phe)
c.1512A>C (p.Leu504Phe)
c.1326A>C (p.Leu442Phe)
c.1245A>C (p.Leu415Phe)
c.951A>C (p.Leu317Phe)
c.1332A>C (p.Leu444Phe)
2g.48688211A>CCA346746044GTF2A1L,LHCGR,STON1-GTF2A1Lc.1586T>G (p.Leu529Ter)
c.948-72T>G (n.948-72T>G)
c.3441+16531A>C (n.3441+16531A>C)
c.*330T>G (n.*330T>G)
c.1505T>G (p.Leu502Ter)
c.276+16531A>C (n.276+16531A>C)
c.*220+6013T>G (n.*220+6013T>G)
c.629T>G (p.Leu210Ter)
c.656T>G (p.Leu219Ter)
c.1511T>G (p.Leu504Ter)
c.1325T>G (p.Leu442Ter)
c.1244T>G (p.Leu415Ter)
c.950T>G (p.Leu317Ter)
c.1331T>G (p.Leu444Ter)
2g.48688211A>GCA346746048GTF2A1L,LHCGR,STON1-GTF2A1Lc.1586T>C (p.Leu529Ser)
c.948-72T>C (n.948-72T>C)
c.3441+16531A>G (n.3441+16531A>G)
c.*330T>C (n.*330T>C)
c.1505T>C (p.Leu502Ser)
c.276+16531A>G (n.276+16531A>G)
c.*220+6013T>C (n.*220+6013T>C)
c.629T>C (p.Leu210Ser)
c.656T>C (p.Leu219Ser)
c.1511T>C (p.Leu504Ser)
c.1325T>C (p.Leu442Ser)
c.1244T>C (p.Leu415Ser)
c.950T>C (p.Leu317Ser)
c.1331T>C (p.Leu444Ser)
2g.48688211A>TCA346746051GTF2A1L,LHCGR,STON1-GTF2A1Lc.1586T>A (p.Leu529Ter)
c.948-72T>A (n.948-72T>A)
c.3441+16531A>T (n.3441+16531A>T)
c.*330T>A (n.*330T>A)
c.1505T>A (p.Leu502Ter)
c.276+16531A>T (n.276+16531A>T)
c.*220+6013T>A (n.*220+6013T>A)
c.629T>A (p.Leu210Ter)
c.656T>A (p.Leu219Ter)
c.1511T>A (p.Leu504Ter)
c.1325T>A (p.Leu442Ter)
c.1244T>A (p.Leu415Ter)
c.950T>A (p.Leu317Ter)
c.1331T>A (p.Leu444Ter)
2g.48688212A>CCA346746053GTF2A1L,LHCGR,STON1-GTF2A1Lc.1585T>G (p.Leu529Val)
c.948-73T>G (n.948-73T>G)
c.3441+16532A>C (n.3441+16532A>C)
c.*329T>G (n.*329T>G)
c.1504T>G (p.Leu502Val)
c.276+16532A>C (n.276+16532A>C)
c.*220+6012T>G (n.*220+6012T>G)
c.628T>G (p.Leu210Val)
c.655T>G (p.Leu219Val)
c.1510T>G (p.Leu504Val)
c.1324T>G (p.Leu442Val)
c.1243T>G (p.Leu415Val)
c.949T>G (p.Leu317Val)
c.1330T>G (p.Leu444Val)
2g.48688212A>GCA426125324GTF2A1L,LHCGR,STON1-GTF2A1Lc.1585T>C (p.Leu529=)
c.948-73T>C (n.948-73T>C)
c.3441+16532A>G (n.3441+16532A>G)
c.*329T>C (n.*329T>C)
c.1504T>C (p.Leu502=)
c.276+16532A>G (n.276+16532A>G)
c.*220+6012T>C (n.*220+6012T>C)
c.628T>C (p.Leu210=)
c.655T>C (p.Leu219=)
c.1510T>C (p.Leu504=)
c.1324T>C (p.Leu442=)
c.1243T>C (p.Leu415=)
c.949T>C (p.Leu317=)
c.1330T>C (p.Leu444=)
2g.48688212A>TCA346746060GTF2A1L,LHCGR,STON1-GTF2A1Lc.1585T>A (p.Leu529Ile)
c.948-73T>A (n.948-73T>A)
c.3441+16532A>T (n.3441+16532A>T)
c.*329T>A (n.*329T>A)
c.1504T>A (p.Leu502Ile)
c.276+16532A>T (n.276+16532A>T)
c.*220+6012T>A (n.*220+6012T>A)
c.628T>A (p.Leu210Ile)
c.655T>A (p.Leu219Ile)
c.1510T>A (p.Leu504Ile)
c.1324T>A (p.Leu442Ile)
c.1243T>A (p.Leu415Ile)
c.949T>A (p.Leu317Ile)
c.1330T>A (p.Leu444Ile)
2g.48688212_48688213insCACA2576963412GTF2A1L,LHCGR,STON1-GTF2A1Lc.1585_1586insGT (p.Leu529CysfsTer2)
c.948-73_948-72insGT (n.948-73_948-72insGT)
c.3441+16532_3441+16533insCA (n.3441+16532_3441+16533insCA)
c.*329_*330insGT (n.*329_*330insGT)
c.1504_1505insGT (p.Leu502CysfsTer2)
c.276+16532_276+16533insCA (n.276+16532_276+16533insCA)
c.*220+6012_*220+6013insGT (n.*220+6012_*220+6013insGT)
c.628_629insGT (p.Leu210CysfsTer2)
c.655_656insGT (p.Leu219CysfsTer2)
c.1510_1511insGT (p.Leu504CysfsTer2)
c.1324_1325insGT (p.Leu442CysfsTer2)
c.1243_1244insGT (p.Leu415CysfsTer2)
c.949_950insGT (p.Leu317CysfsTer2)
c.1330_1331insGT (p.Leu444CysfsTer2)
2g.48688215_48688218delCA2586969306GTF2A1L,LHCGR,STON1-GTF2A1Lc.1582_1585del (p.Ile528Ter)
c.948-76_948-73del (n.948-76_948-73del)
c.3441+16535_3441+16538del (n.3441+16535_3441+16538del)
c.*326_*329del (n.*326_*329del)
c.1501_1504del (p.Ile501Ter)
c.276+16535_276+16538del (n.276+16535_276+16538del)
c.*220+6009_*220+6012del (n.*220+6009_*220+6012del)
c.625_628del (p.Ile209Ter)
c.652_655del (p.Ile218Ter)
c.1507_1510del (p.Ile503Ter)
c.1321_1324del (p.Ile441Ter)
c.1240_1243del (p.Ile414Ter)
c.946_949del (p.Ile316Ter)
c.1327_1330del (p.Ile443Ter)
2g.48688213T>ACA426125328GTF2A1L,LHCGR,STON1-GTF2A1Lc.1584A>T (p.Ile528=)
c.948-74A>T (n.948-74A>T)
c.3441+16533T>A (n.3441+16533T>A)
c.*328A>T (n.*328A>T)
c.1503A>T (p.Ile501=)
c.276+16533T>A (n.276+16533T>A)
c.*220+6011A>T (n.*220+6011A>T)
c.627A>T (p.Ile209=)
c.654A>T (p.Ile218=)
c.1509A>T (p.Ile503=)
c.1323A>T (p.Ile441=)
c.1242A>T (p.Ile414=)
c.948A>T (p.Ile316=)
c.1329A>T (p.Ile443=)
2g.48688213T>CCA346746062GTF2A1L,LHCGR,STON1-GTF2A1Lc.1584A>G (p.Ile528Met)
c.948-74A>G (n.948-74A>G)
c.3441+16533T>C (n.3441+16533T>C)
c.*328A>G (n.*328A>G)
c.1503A>G (p.Ile501Met)
c.276+16533T>C (n.276+16533T>C)
c.*220+6011A>G (n.*220+6011A>G)
c.627A>G (p.Ile209Met)
c.654A>G (p.Ile218Met)
c.1509A>G (p.Ile503Met)
c.1323A>G (p.Ile441Met)
c.1242A>G (p.Ile414Met)
c.948A>G (p.Ile316Met)
c.1329A>G (p.Ile443Met)
2g.48688213T>GCA426125329GTF2A1L,LHCGR,STON1-GTF2A1Lc.1584A>C (p.Ile528=)
c.948-74A>C (n.948-74A>C)
c.3441+16533T>G (n.3441+16533T>G)
c.*328A>C (n.*328A>C)
c.1503A>C (p.Ile501=)
c.276+16533T>G (n.276+16533T>G)
c.*220+6011A>C (n.*220+6011A>C)
c.627A>C (p.Ile209=)
c.654A>C (p.Ile218=)
c.1509A>C (p.Ile503=)
c.1323A>C (p.Ile441=)
c.1242A>C (p.Ile414=)
c.948A>C (p.Ile316=)
c.1329A>C (p.Ile443=)
2g.48688214A>CCA346746066GTF2A1L,LHCGR,STON1-GTF2A1Lc.1583T>G (p.Ile528Arg)
c.948-75T>G (n.948-75T>G)
c.3441+16534A>C (n.3441+16534A>C)
c.*327T>G (n.*327T>G)
c.1502T>G (p.Ile501Arg)
c.276+16534A>C (n.276+16534A>C)
c.*220+6010T>G (n.*220+6010T>G)
c.626T>G (p.Ile209Arg)
c.653T>G (p.Ile218Arg)
c.1508T>G (p.Ile503Arg)
c.1322T>G (p.Ile441Arg)
c.1241T>G (p.Ile414Arg)
c.947T>G (p.Ile316Arg)
c.1328T>G (p.Ile443Arg)
2g.48688214A>GCA346746073GTF2A1L,LHCGR,STON1-GTF2A1Lc.1583T>C (p.Ile528Thr)
c.948-75T>C (n.948-75T>C)
c.3441+16534A>G (n.3441+16534A>G)
c.*327T>C (n.*327T>C)
c.1502T>C (p.Ile501Thr)
c.276+16534A>G (n.276+16534A>G)
c.*220+6010T>C (n.*220+6010T>C)
c.626T>C (p.Ile209Thr)
c.653T>C (p.Ile218Thr)
c.1508T>C (p.Ile503Thr)
c.1322T>C (p.Ile441Thr)
c.1241T>C (p.Ile414Thr)
c.947T>C (p.Ile316Thr)
c.1328T>C (p.Ile443Thr)
 COSMIC
2g.48688214A>TCA346746074GTF2A1L,LHCGR,STON1-GTF2A1Lc.1583T>A (p.Ile528Lys)
c.948-75T>A (n.948-75T>A)
c.3441+16534A>T (n.3441+16534A>T)
c.*327T>A (n.*327T>A)
c.1502T>A (p.Ile501Lys)
c.276+16534A>T (n.276+16534A>T)
c.*220+6010T>A (n.*220+6010T>A)
c.626T>A (p.Ile209Lys)
c.653T>A (p.Ile218Lys)
c.1508T>A (p.Ile503Lys)
c.1322T>A (p.Ile441Lys)
c.1241T>A (p.Ile414Lys)
c.947T>A (p.Ile316Lys)
c.1328T>A (p.Ile443Lys)
2g.48688215T>ACA346746078GTF2A1L,LHCGR,STON1-GTF2A1Lc.1582A>T (p.Ile528Leu)
c.948-76A>T (n.948-76A>T)
c.3441+16535T>A (n.3441+16535T>A)
c.*326A>T (n.*326A>T)
c.1501A>T (p.Ile501Leu)
c.276+16535T>A (n.276+16535T>A)
c.*220+6009A>T (n.*220+6009A>T)
c.625A>T (p.Ile209Leu)
c.652A>T (p.Ile218Leu)
c.1507A>T (p.Ile503Leu)
c.1321A>T (p.Ile441Leu)
c.1240A>T (p.Ile414Leu)
c.946A>T (p.Ile316Leu)
c.1327A>T (p.Ile443Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688215T>CCA346746080GTF2A1L,LHCGR,STON1-GTF2A1Lc.1582A>G (p.Ile528Val)
c.948-76A>G (n.948-76A>G)
c.3441+16535T>C (n.3441+16535T>C)
c.*326A>G (n.*326A>G)
c.1501A>G (p.Ile501Val)
c.276+16535T>C (n.276+16535T>C)
c.*220+6009A>G (n.*220+6009A>G)
c.625A>G (p.Ile209Val)
c.652A>G (p.Ile218Val)
c.1507A>G (p.Ile503Val)
c.1321A>G (p.Ile441Val)
c.1240A>G (p.Ile414Val)
c.946A>G (p.Ile316Val)
c.1327A>G (p.Ile443Val)
 gnomAD v4
2g.48688215T>GCA346746085GTF2A1L,LHCGR,STON1-GTF2A1Lc.1582A>C (p.Ile528Leu)
c.948-76A>C (n.948-76A>C)
c.3441+16535T>G (n.3441+16535T>G)
c.*326A>C (n.*326A>C)
c.1501A>C (p.Ile501Leu)
c.276+16535T>G (n.276+16535T>G)
c.*220+6009A>C (n.*220+6009A>C)
c.625A>C (p.Ile209Leu)
c.652A>C (p.Ile218Leu)
c.1507A>C (p.Ile503Leu)
c.1321A>C (p.Ile441Leu)
c.1240A>C (p.Ile414Leu)
c.946A>C (p.Ile316Leu)
c.1327A>C (p.Ile443Leu)
2g.48688215T=CA1248601035GTF2A1L,LHCGR,STON1-GTF2A1Lc.1582A= (p.Ile528=)
c.948-76A= (n.948-76A=)
c.3441+16535T= (n.3441+16535T=)
c.*326A= (n.*326A=)
c.1501A= (p.Ile501=)
c.276+16535T= (n.276+16535T=)
c.*220+6009A= (n.*220+6009A=)
c.625A= (p.Ile209=)
c.652A= (p.Ile218=)
c.1507A= (p.Ile503=)
c.1321A= (p.Ile441=)
c.1240A= (p.Ile414=)
c.946A= (p.Ile316=)
c.1327A= (p.Ile443=)
2g.48688216A=CA1248601036GTF2A1L,LHCGR,STON1-GTF2A1Lc.1581T= (p.Tyr527=)
c.948-77T= (n.948-77T=)
c.3441+16536A= (n.3441+16536A=)
c.*325T= (n.*325T=)
c.1500T= (p.Tyr500=)
c.276+16536A= (n.276+16536A=)
c.*220+6008T= (n.*220+6008T=)
c.624T= (p.Tyr208=)
c.651T= (p.Tyr217=)
c.1506T= (p.Tyr502=)
c.1320T= (p.Tyr440=)
c.1239T= (p.Tyr413=)
c.945T= (p.Tyr315=)
c.1326T= (p.Tyr442=)
2g.48688216A>CCA346746096GTF2A1L,LHCGR,STON1-GTF2A1Lc.1581T>G (p.Tyr527Ter)
c.948-77T>G (n.948-77T>G)
c.3441+16536A>C (n.3441+16536A>C)
c.*325T>G (n.*325T>G)
c.1500T>G (p.Tyr500Ter)
c.276+16536A>C (n.276+16536A>C)
c.*220+6008T>G (n.*220+6008T>G)
c.624T>G (p.Tyr208Ter)
c.651T>G (p.Tyr217Ter)
c.1506T>G (p.Tyr502Ter)
c.1320T>G (p.Tyr440Ter)
c.1239T>G (p.Tyr413Ter)
c.945T>G (p.Tyr315Ter)
c.1326T>G (p.Tyr442Ter)
2g.48688216A>GCA1653014GTF2A1L,LHCGR,STON1-GTF2A1Lc.1581T>C (p.Tyr527=)
c.948-77T>C (n.948-77T>C)
c.3441+16536A>G (n.3441+16536A>G)
c.*325T>C (n.*325T>C)
c.1500T>C (p.Tyr500=)
c.276+16536A>G (n.276+16536A>G)
c.*220+6008T>C (n.*220+6008T>C)
c.624T>C (p.Tyr208=)
c.651T>C (p.Tyr217=)
c.1506T>C (p.Tyr502=)
c.1320T>C (p.Tyr440=)
c.1239T>C (p.Tyr413=)
c.945T>C (p.Tyr315=)
c.1326T>C (p.Tyr442=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688216A>TCA346746086GTF2A1L,LHCGR,STON1-GTF2A1Lc.1581T>A (p.Tyr527Ter)
c.948-77T>A (n.948-77T>A)
c.3441+16536A>T (n.3441+16536A>T)
c.*325T>A (n.*325T>A)
c.1500T>A (p.Tyr500Ter)
c.276+16536A>T (n.276+16536A>T)
c.*220+6008T>A (n.*220+6008T>A)
c.624T>A (p.Tyr208Ter)
c.651T>A (p.Tyr217Ter)
c.1506T>A (p.Tyr502Ter)
c.1320T>A (p.Tyr440Ter)
c.1239T>A (p.Tyr413Ter)
c.945T>A (p.Tyr315Ter)
c.1326T>A (p.Tyr442Ter)
2g.48688217T>ACA346746097GTF2A1L,LHCGR,STON1-GTF2A1Lc.1580A>T (p.Tyr527Phe)
c.948-78A>T (n.948-78A>T)
c.3441+16537T>A (n.3441+16537T>A)
c.*324A>T (n.*324A>T)
c.1499A>T (p.Tyr500Phe)
c.276+16537T>A (n.276+16537T>A)
c.*220+6007A>T (n.*220+6007A>T)
c.623A>T (p.Tyr208Phe)
c.650A>T (p.Tyr217Phe)
c.1505A>T (p.Tyr502Phe)
c.1319A>T (p.Tyr440Phe)
c.1238A>T (p.Tyr413Phe)
c.944A>T (p.Tyr315Phe)
c.1325A>T (p.Tyr442Phe)
2g.48688217T>CCA1653015GTF2A1L,LHCGR,STON1-GTF2A1Lc.1580A>G (p.Tyr527Cys)
c.948-78A>G (n.948-78A>G)
c.3441+16537T>C (n.3441+16537T>C)
c.*324A>G (n.*324A>G)
c.1499A>G (p.Tyr500Cys)
c.276+16537T>C (n.276+16537T>C)
c.*220+6007A>G (n.*220+6007A>G)
c.623A>G (p.Tyr208Cys)
c.650A>G (p.Tyr217Cys)
c.1505A>G (p.Tyr502Cys)
c.1319A>G (p.Tyr440Cys)
c.1238A>G (p.Tyr413Cys)
c.944A>G (p.Tyr315Cys)
c.1325A>G (p.Tyr442Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688217T>GCA346746100GTF2A1L,LHCGR,STON1-GTF2A1Lc.1580A>C (p.Tyr527Ser)
c.948-78A>C (n.948-78A>C)
c.3441+16537T>G (n.3441+16537T>G)
c.*324A>C (n.*324A>C)
c.1499A>C (p.Tyr500Ser)
c.276+16537T>G (n.276+16537T>G)
c.*220+6007A>C (n.*220+6007A>C)
c.623A>C (p.Tyr208Ser)
c.650A>C (p.Tyr217Ser)
c.1505A>C (p.Tyr502Ser)
c.1319A>C (p.Tyr440Ser)
c.1238A>C (p.Tyr413Ser)
c.944A>C (p.Tyr315Ser)
c.1325A>C (p.Tyr442Ser)
2g.48688217T=CA1248601037GTF2A1L,LHCGR,STON1-GTF2A1Lc.1580A= (p.Tyr527=)
c.948-78A= (n.948-78A=)
c.3441+16537T= (n.3441+16537T=)
c.*324A= (n.*324A=)
c.1499A= (p.Tyr500=)
c.276+16537T= (n.276+16537T=)
c.*220+6007A= (n.*220+6007A=)
c.623A= (p.Tyr208=)
c.650A= (p.Tyr217=)
c.1505A= (p.Tyr502=)
c.1319A= (p.Tyr440=)
c.1238A= (p.Tyr413=)
c.944A= (p.Tyr315=)
c.1325A= (p.Tyr442=)
2g.48688218A>CCA346746104GTF2A1L,LHCGR,STON1-GTF2A1Lc.1579T>G (p.Tyr527Asp)
c.948-79T>G (n.948-79T>G)
c.3441+16538A>C (n.3441+16538A>C)
c.*323T>G (n.*323T>G)
c.1498T>G (p.Tyr500Asp)
c.276+16538A>C (n.276+16538A>C)
c.*220+6006T>G (n.*220+6006T>G)
c.622T>G (p.Tyr208Asp)
c.649T>G (p.Tyr217Asp)
c.1504T>G (p.Tyr502Asp)
c.1318T>G (p.Tyr440Asp)
c.1237T>G (p.Tyr413Asp)
c.943T>G (p.Tyr315Asp)
c.1324T>G (p.Tyr442Asp)
2g.48688218A>GCA346746111GTF2A1L,LHCGR,STON1-GTF2A1Lc.1579T>C (p.Tyr527His)
c.948-79T>C (n.948-79T>C)
c.3441+16538A>G (n.3441+16538A>G)
c.*323T>C (n.*323T>C)
c.1498T>C (p.Tyr500His)
c.276+16538A>G (n.276+16538A>G)
c.*220+6006T>C (n.*220+6006T>C)
c.622T>C (p.Tyr208His)
c.649T>C (p.Tyr217His)
c.1504T>C (p.Tyr502His)
c.1318T>C (p.Tyr440His)
c.1237T>C (p.Tyr413His)
c.943T>C (p.Tyr315His)
c.1324T>C (p.Tyr442His)
2g.48688218A>TCA346746114GTF2A1L,LHCGR,STON1-GTF2A1Lc.1579T>A (p.Tyr527Asn)
c.948-79T>A (n.948-79T>A)
c.3441+16538A>T (n.3441+16538A>T)
c.*323T>A (n.*323T>A)
c.1498T>A (p.Tyr500Asn)
c.276+16538A>T (n.276+16538A>T)
c.*220+6006T>A (n.*220+6006T>A)
c.622T>A (p.Tyr208Asn)
c.649T>A (p.Tyr217Asn)
c.1504T>A (p.Tyr502Asn)
c.1318T>A (p.Tyr440Asn)
c.1237T>A (p.Tyr413Asn)
c.943T>A (p.Tyr315Asn)
c.1324T>A (p.Tyr442Asn)
 gnomAD v4
2g.48688219G>ACA426125345GTF2A1L,LHCGR,STON1-GTF2A1Lc.1578C>T (p.Val526=)
c.948-80C>T (n.948-80C>T)
c.3441+16539G>A (n.3441+16539G>A)
c.*322C>T (n.*322C>T)
c.1497C>T (p.Val499=)
c.276+16539G>A (n.276+16539G>A)
c.*220+6005C>T (n.*220+6005C>T)
c.621C>T (p.Val207=)
c.648C>T (p.Val216=)
c.1503C>T (p.Val501=)
c.1317C>T (p.Val439=)
c.1236C>T (p.Val412=)
c.942C>T (p.Val314=)
c.1323C>T (p.Val441=)
2g.48688219G>CCA426125348GTF2A1L,LHCGR,STON1-GTF2A1Lc.1578C>G (p.Val526=)
c.948-80C>G (n.948-80C>G)
c.3441+16539G>C (n.3441+16539G>C)
c.*322C>G (n.*322C>G)
c.1497C>G (p.Val499=)
c.276+16539G>C (n.276+16539G>C)
c.*220+6005C>G (n.*220+6005C>G)
c.621C>G (p.Val207=)
c.648C>G (p.Val216=)
c.1503C>G (p.Val501=)
c.1317C>G (p.Val439=)
c.1236C>G (p.Val412=)
c.942C>G (p.Val314=)
c.1323C>G (p.Val441=)
2g.48688219G>TCA426125352GTF2A1L,LHCGR,STON1-GTF2A1Lc.1578C>A (p.Val526=)
c.948-80C>A (n.948-80C>A)
c.3441+16539G>T (n.3441+16539G>T)
c.*322C>A (n.*322C>A)
c.1497C>A (p.Val499=)
c.276+16539G>T (n.276+16539G>T)
c.*220+6005C>A (n.*220+6005C>A)
c.621C>A (p.Val207=)
c.648C>A (p.Val216=)
c.1503C>A (p.Val501=)
c.1317C>A (p.Val439=)
c.1236C>A (p.Val412=)
c.942C>A (p.Val314=)
c.1323C>A (p.Val441=)
2g.48688220A>CCA346746120GTF2A1L,LHCGR,STON1-GTF2A1Lc.1577T>G (p.Val526Gly)
c.948-81T>G (n.948-81T>G)
c.3441+16540A>C (n.3441+16540A>C)
c.*321T>G (n.*321T>G)
c.1496T>G (p.Val499Gly)
c.276+16540A>C (n.276+16540A>C)
c.*220+6004T>G (n.*220+6004T>G)
c.620T>G (p.Val207Gly)
c.647T>G (p.Val216Gly)
c.1502T>G (p.Val501Gly)
c.1316T>G (p.Val439Gly)
c.1235T>G (p.Val412Gly)
c.941T>G (p.Val314Gly)
c.1322T>G (p.Val441Gly)
2g.48688220A>GCA346746123GTF2A1L,LHCGR,STON1-GTF2A1Lc.1577T>C (p.Val526Ala)
c.948-81T>C (n.948-81T>C)
c.3441+16540A>G (n.3441+16540A>G)
c.*321T>C (n.*321T>C)
c.1496T>C (p.Val499Ala)
c.276+16540A>G (n.276+16540A>G)
c.*220+6004T>C (n.*220+6004T>C)
c.620T>C (p.Val207Ala)
c.647T>C (p.Val216Ala)
c.1502T>C (p.Val501Ala)
c.1316T>C (p.Val439Ala)
c.1235T>C (p.Val412Ala)
c.941T>C (p.Val314Ala)
c.1322T>C (p.Val441Ala)
2g.48688220A>TCA346746125GTF2A1L,LHCGR,STON1-GTF2A1Lc.1577T>A (p.Val526Asp)
c.948-81T>A (n.948-81T>A)
c.3441+16540A>T (n.3441+16540A>T)
c.*321T>A (n.*321T>A)
c.1496T>A (p.Val499Asp)
c.276+16540A>T (n.276+16540A>T)
c.*220+6004T>A (n.*220+6004T>A)
c.620T>A (p.Val207Asp)
c.647T>A (p.Val216Asp)
c.1502T>A (p.Val501Asp)
c.1316T>A (p.Val439Asp)
c.1235T>A (p.Val412Asp)
c.941T>A (p.Val314Asp)
c.1322T>A (p.Val441Asp)
2g.48688221C>ACA346746126GTF2A1L,LHCGR,STON1-GTF2A1Lc.1576G>T (p.Val526Phe)
c.948-82G>T (n.948-82G>T)
c.3441+16541C>A (n.3441+16541C>A)
c.*320G>T (n.*320G>T)
c.1495G>T (p.Val499Phe)
c.276+16541C>A (n.276+16541C>A)
c.*220+6003G>T (n.*220+6003G>T)
c.619G>T (p.Val207Phe)
c.646G>T (p.Val216Phe)
c.1501G>T (p.Val501Phe)
c.1315G>T (p.Val439Phe)
c.1234G>T (p.Val412Phe)
c.940G>T (p.Val314Phe)
c.1321G>T (p.Val441Phe)
 gnomAD v4
2g.48688221C>GCA346746127GTF2A1L,LHCGR,STON1-GTF2A1Lc.1576G>C (p.Val526Leu)
c.948-82G>C (n.948-82G>C)
c.3441+16541C>G (n.3441+16541C>G)
c.*320G>C (n.*320G>C)
c.1495G>C (p.Val499Leu)
c.276+16541C>G (n.276+16541C>G)
c.*220+6003G>C (n.*220+6003G>C)
c.619G>C (p.Val207Leu)
c.646G>C (p.Val216Leu)
c.1501G>C (p.Val501Leu)
c.1315G>C (p.Val439Leu)
c.1234G>C (p.Val412Leu)
c.940G>C (p.Val314Leu)
c.1321G>C (p.Val441Leu)
2g.48688221C>TCA346746128GTF2A1L,LHCGR,STON1-GTF2A1Lc.1576G>A (p.Val526Ile)
c.948-82G>A (n.948-82G>A)
c.3441+16541C>T (n.3441+16541C>T)
c.*320G>A (n.*320G>A)
c.1495G>A (p.Val499Ile)
c.276+16541C>T (n.276+16541C>T)
c.*220+6003G>A (n.*220+6003G>A)
c.619G>A (p.Val207Ile)
c.646G>A (p.Val216Ile)
c.1501G>A (p.Val501Ile)
c.1315G>A (p.Val439Ile)
c.1234G>A (p.Val412Ile)
c.940G>A (p.Val314Ile)
c.1321G>A (p.Val441Ile)
2g.48688222T>ACA346746133GTF2A1L,LHCGR,STON1-GTF2A1Lc.1575A>T (p.Gln525His)
c.948-83A>T (n.948-83A>T)
c.3441+16542T>A (n.3441+16542T>A)
c.*319A>T (n.*319A>T)
c.1494A>T (p.Gln498His)
c.276+16542T>A (n.276+16542T>A)
c.*220+6002A>T (n.*220+6002A>T)
c.618A>T (p.Gln206His)
c.645A>T (p.Gln215His)
c.1500A>T (p.Gln500His)
c.1314A>T (p.Gln438His)
c.1233A>T (p.Gln411His)
c.939A>T (p.Gln313His)
c.1320A>T (p.Gln440His)
2g.48688222T>CCA1653016GTF2A1L,LHCGR,STON1-GTF2A1Lc.1575A>G (p.Gln525=)
c.948-83A>G (n.948-83A>G)
c.3441+16542T>C (n.3441+16542T>C)
c.*319A>G (n.*319A>G)
c.1494A>G (p.Gln498=)
c.276+16542T>C (n.276+16542T>C)
c.*220+6002A>G (n.*220+6002A>G)
c.618A>G (p.Gln206=)
c.645A>G (p.Gln215=)
c.1500A>G (p.Gln500=)
c.1314A>G (p.Gln438=)
c.1233A>G (p.Gln411=)
c.939A>G (p.Gln313=)
c.1320A>G (p.Gln440=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688222T>GCA346746130GTF2A1L,LHCGR,STON1-GTF2A1Lc.1575A>C (p.Gln525His)
c.948-83A>C (n.948-83A>C)
c.3441+16542T>G (n.3441+16542T>G)
c.*319A>C (n.*319A>C)
c.1494A>C (p.Gln498His)
c.276+16542T>G (n.276+16542T>G)
c.*220+6002A>C (n.*220+6002A>C)
c.618A>C (p.Gln206His)
c.645A>C (p.Gln215His)
c.1500A>C (p.Gln500His)
c.1314A>C (p.Gln438His)
c.1233A>C (p.Gln411His)
c.939A>C (p.Gln313His)
c.1320A>C (p.Gln440His)
2g.48688222T=CA1248601038GTF2A1L,LHCGR,STON1-GTF2A1Lc.1575A= (p.Gln525=)
c.948-83A= (n.948-83A=)
c.3441+16542T= (n.3441+16542T=)
c.*319A= (n.*319A=)
c.1494A= (p.Gln498=)
c.276+16542T= (n.276+16542T=)
c.*220+6002A= (n.*220+6002A=)
c.618A= (p.Gln206=)
c.645A= (p.Gln215=)
c.1500A= (p.Gln500=)
c.1314A= (p.Gln438=)
c.1233A= (p.Gln411=)
c.939A= (p.Gln313=)
c.1320A= (p.Gln440=)
2g.48688223T>ACA346746135GTF2A1L,LHCGR,STON1-GTF2A1Lc.1574A>T (p.Gln525Leu)
c.948-84A>T (n.948-84A>T)
c.3441+16543T>A (n.3441+16543T>A)
c.*318A>T (n.*318A>T)
c.1493A>T (p.Gln498Leu)
c.276+16543T>A (n.276+16543T>A)
c.*220+6001A>T (n.*220+6001A>T)
c.617A>T (p.Gln206Leu)
c.644A>T (p.Gln215Leu)
c.1499A>T (p.Gln500Leu)
c.1313A>T (p.Gln438Leu)
c.1232A>T (p.Gln411Leu)
c.938A>T (p.Gln313Leu)
c.1319A>T (p.Gln440Leu)
2g.48688223T>CCA346746140GTF2A1L,LHCGR,STON1-GTF2A1Lc.1574A>G (p.Gln525Arg)
c.948-84A>G (n.948-84A>G)
c.3441+16543T>C (n.3441+16543T>C)
c.*318A>G (n.*318A>G)
c.1493A>G (p.Gln498Arg)
c.276+16543T>C (n.276+16543T>C)
c.*220+6001A>G (n.*220+6001A>G)
c.617A>G (p.Gln206Arg)
c.644A>G (p.Gln215Arg)
c.1499A>G (p.Gln500Arg)
c.1313A>G (p.Gln438Arg)
c.1232A>G (p.Gln411Arg)
c.938A>G (p.Gln313Arg)
c.1319A>G (p.Gln440Arg)
 gnomAD v4
2g.48688223T>GCA346746142GTF2A1L,LHCGR,STON1-GTF2A1Lc.1574A>C (p.Gln525Pro)
c.948-84A>C (n.948-84A>C)
c.3441+16543T>G (n.3441+16543T>G)
c.*318A>C (n.*318A>C)
c.1493A>C (p.Gln498Pro)
c.276+16543T>G (n.276+16543T>G)
c.*220+6001A>C (n.*220+6001A>C)
c.617A>C (p.Gln206Pro)
c.644A>C (p.Gln215Pro)
c.1499A>C (p.Gln500Pro)
c.1313A>C (p.Gln438Pro)
c.1232A>C (p.Gln411Pro)
c.938A>C (p.Gln313Pro)
c.1319A>C (p.Gln440Pro)
2g.48688224G>ACA346746145GTF2A1L,LHCGR,STON1-GTF2A1Lc.1573C>T (p.Gln525Ter)
c.948-85C>T (n.948-85C>T)
c.3441+16544G>A (n.3441+16544G>A)
c.*317C>T (n.*317C>T)
c.1492C>T (p.Gln498Ter)
c.276+16544G>A (n.276+16544G>A)
c.*220+6000C>T (n.*220+6000C>T)
c.616C>T (p.Gln206Ter)
c.643C>T (p.Gln215Ter)
c.1498C>T (p.Gln500Ter)
c.1312C>T (p.Gln438Ter)
c.1231C>T (p.Gln411Ter)
c.937C>T (p.Gln313Ter)
c.1318C>T (p.Gln440Ter)
 ClinVar dbSNP gnomAD v4
2g.48688224G>CCA346746147GTF2A1L,LHCGR,STON1-GTF2A1Lc.1573C>G (p.Gln525Glu)
c.948-85C>G (n.948-85C>G)
c.3441+16544G>C (n.3441+16544G>C)
c.*317C>G (n.*317C>G)
c.1492C>G (p.Gln498Glu)
c.276+16544G>C (n.276+16544G>C)
c.*220+6000C>G (n.*220+6000C>G)
c.616C>G (p.Gln206Glu)
c.643C>G (p.Gln215Glu)
c.1498C>G (p.Gln500Glu)
c.1312C>G (p.Gln438Glu)
c.1231C>G (p.Gln411Glu)
c.937C>G (p.Gln313Glu)
c.1318C>G (p.Gln440Glu)
2g.48688224G=CA1248601039GTF2A1L,LHCGR,STON1-GTF2A1Lc.1573C= (p.Gln525=)
c.948-85C= (n.948-85C=)
c.3441+16544G= (n.3441+16544G=)
c.*317C= (n.*317C=)
c.1492C= (p.Gln498=)
c.276+16544G= (n.276+16544G=)
c.*220+6000C= (n.*220+6000C=)
c.616C= (p.Gln206=)
c.643C= (p.Gln215=)
c.1498C= (p.Gln500=)
c.1312C= (p.Gln438=)
c.1231C= (p.Gln411=)
c.937C= (p.Gln313=)
c.1318C= (p.Gln440=)
2g.48688224G>TCA346746149GTF2A1L,LHCGR,STON1-GTF2A1Lc.1573C>A (p.Gln525Lys)
c.948-85C>A (n.948-85C>A)
c.3441+16544G>T (n.3441+16544G>T)
c.*317C>A (n.*317C>A)
c.1492C>A (p.Gln498Lys)
c.276+16544G>T (n.276+16544G>T)
c.*220+6000C>A (n.*220+6000C>A)
c.616C>A (p.Gln206Lys)
c.643C>A (p.Gln215Lys)
c.1498C>A (p.Gln500Lys)
c.1312C>A (p.Gln438Lys)
c.1231C>A (p.Gln411Lys)
c.937C>A (p.Gln313Lys)
c.1318C>A (p.Gln440Lys)
2g.48688225T>ACA426125377GTF2A1L,LHCGR,STON1-GTF2A1Lc.1572A>T (p.Ser524=)
c.948-86A>T (n.948-86A>T)
c.3441+16545T>A (n.3441+16545T>A)
c.*316A>T (n.*316A>T)
c.1491A>T (p.Ser497=)
c.276+16545T>A (n.276+16545T>A)
c.*220+5999A>T (n.*220+5999A>T)
c.615A>T (p.Ser205=)
c.642A>T (p.Ser214=)
c.1497A>T (p.Ser499=)
c.1311A>T (p.Ser437=)
c.1230A>T (p.Ser410=)
c.936A>T (p.Ser312=)
c.1317A>T (p.Ser439=)
2g.48688225T>CCA1653017GTF2A1L,LHCGR,STON1-GTF2A1Lc.1572A>G (p.Ser524=)
c.948-86A>G (n.948-86A>G)
c.3441+16545T>C (n.3441+16545T>C)
c.*316A>G (n.*316A>G)
c.1491A>G (p.Ser497=)
c.276+16545T>C (n.276+16545T>C)
c.*220+5999A>G (n.*220+5999A>G)
c.615A>G (p.Ser205=)
c.642A>G (p.Ser214=)
c.1497A>G (p.Ser499=)
c.1311A>G (p.Ser437=)
c.1230A>G (p.Ser410=)
c.936A>G (p.Ser312=)
c.1317A>G (p.Ser439=)
 dbSNP ExAC gnomAD v2
2g.48688225T>GCA426125378GTF2A1L,LHCGR,STON1-GTF2A1Lc.1572A>C (p.Ser524=)
c.948-86A>C (n.948-86A>C)
c.3441+16545T>G (n.3441+16545T>G)
c.*316A>C (n.*316A>C)
c.1491A>C (p.Ser497=)
c.276+16545T>G (n.276+16545T>G)
c.*220+5999A>C (n.*220+5999A>C)
c.615A>C (p.Ser205=)
c.642A>C (p.Ser214=)
c.1497A>C (p.Ser499=)
c.1311A>C (p.Ser437=)
c.1230A>C (p.Ser410=)
c.936A>C (p.Ser312=)
c.1317A>C (p.Ser439=)
2g.48688225T=CA1248601040GTF2A1L,LHCGR,STON1-GTF2A1Lc.1572A= (p.Ser524=)
c.948-86A= (n.948-86A=)
c.3441+16545T= (n.3441+16545T=)
c.*316A= (n.*316A=)
c.1491A= (p.Ser497=)
c.276+16545T= (n.276+16545T=)
c.*220+5999A= (n.*220+5999A=)
c.615A= (p.Ser205=)
c.642A= (p.Ser214=)
c.1497A= (p.Ser499=)
c.1311A= (p.Ser437=)
c.1230A= (p.Ser410=)
c.936A= (p.Ser312=)
c.1317A= (p.Ser439=)
2g.48688226G>ACA346746155GTF2A1L,LHCGR,STON1-GTF2A1Lc.1571C>T (p.Ser524Leu)
c.948-87C>T (n.948-87C>T)
c.3441+16546G>A (n.3441+16546G>A)
c.*315C>T (n.*315C>T)
c.1490C>T (p.Ser497Leu)
c.276+16546G>A (n.276+16546G>A)
c.*220+5998C>T (n.*220+5998C>T)
c.614C>T (p.Ser205Leu)
c.641C>T (p.Ser214Leu)
c.1496C>T (p.Ser499Leu)
c.1310C>T (p.Ser437Leu)
c.1229C>T (p.Ser410Leu)
c.935C>T (p.Ser312Leu)
c.1316C>T (p.Ser439Leu)
 COSMIC
2g.48688226G>CCA346746157GTF2A1L,LHCGR,STON1-GTF2A1Lc.1571C>G (p.Ser524Ter)
c.948-87C>G (n.948-87C>G)
c.3441+16546G>C (n.3441+16546G>C)
c.*315C>G (n.*315C>G)
c.1490C>G (p.Ser497Ter)
c.276+16546G>C (n.276+16546G>C)
c.*220+5998C>G (n.*220+5998C>G)
c.614C>G (p.Ser205Ter)
c.641C>G (p.Ser214Ter)
c.1496C>G (p.Ser499Ter)
c.1310C>G (p.Ser437Ter)
c.1229C>G (p.Ser410Ter)
c.935C>G (p.Ser312Ter)
c.1316C>G (p.Ser439Ter)
2g.48688226G>TCA346746159GTF2A1L,LHCGR,STON1-GTF2A1Lc.1571C>A (p.Ser524Ter)
c.948-87C>A (n.948-87C>A)
c.3441+16546G>T (n.3441+16546G>T)
c.*315C>A (n.*315C>A)
c.1490C>A (p.Ser497Ter)
c.276+16546G>T (n.276+16546G>T)
c.*220+5998C>A (n.*220+5998C>A)
c.614C>A (p.Ser205Ter)
c.641C>A (p.Ser214Ter)
c.1496C>A (p.Ser499Ter)
c.1310C>A (p.Ser437Ter)
c.1229C>A (p.Ser410Ter)
c.935C>A (p.Ser312Ter)
c.1316C>A (p.Ser439Ter)
2g.48688227A>CCA346746161GTF2A1L,LHCGR,STON1-GTF2A1Lc.1570T>G (p.Ser524Ala)
c.948-88T>G (n.948-88T>G)
c.3441+16547A>C (n.3441+16547A>C)
c.*314T>G (n.*314T>G)
c.1489T>G (p.Ser497Ala)
c.276+16547A>C (n.276+16547A>C)
c.*220+5997T>G (n.*220+5997T>G)
c.613T>G (p.Ser205Ala)
c.640T>G (p.Ser214Ala)
c.1495T>G (p.Ser499Ala)
c.1309T>G (p.Ser437Ala)
c.1228T>G (p.Ser410Ala)
c.934T>G (p.Ser312Ala)
c.1315T>G (p.Ser439Ala)
2g.48688227A>GCA346746162GTF2A1L,LHCGR,STON1-GTF2A1Lc.1570T>C (p.Ser524Pro)
c.948-88T>C (n.948-88T>C)
c.3441+16547A>G (n.3441+16547A>G)
c.*314T>C (n.*314T>C)
c.1489T>C (p.Ser497Pro)
c.276+16547A>G (n.276+16547A>G)
c.*220+5997T>C (n.*220+5997T>C)
c.613T>C (p.Ser205Pro)
c.640T>C (p.Ser214Pro)
c.1495T>C (p.Ser499Pro)
c.1309T>C (p.Ser437Pro)
c.1228T>C (p.Ser410Pro)
c.934T>C (p.Ser312Pro)
c.1315T>C (p.Ser439Pro)
2g.48688227A>TCA346746163GTF2A1L,LHCGR,STON1-GTF2A1Lc.1570T>A (p.Ser524Thr)
c.948-88T>A (n.948-88T>A)
c.3441+16547A>T (n.3441+16547A>T)
c.*314T>A (n.*314T>A)
c.1489T>A (p.Ser497Thr)
c.276+16547A>T (n.276+16547A>T)
c.*220+5997T>A (n.*220+5997T>A)
c.613T>A (p.Ser205Thr)
c.640T>A (p.Ser214Thr)
c.1495T>A (p.Ser499Thr)
c.1309T>A (p.Ser437Thr)
c.1228T>A (p.Ser410Thr)
c.934T>A (p.Ser312Thr)
c.1315T>A (p.Ser439Thr)

Number of alleles fetched