Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48688082_48688087delCA2658992080GTF2A1L,LHCGR,STON1-GTF2A1Lc.1713_1718del (p.Met571_Ala572del)
c.*25_*30del (n.*25_*30del)
c.3441+16402_3441+16407del (n.3441+16402_3441+16407del)
c.*457_*462del (n.*457_*462del)
c.1632_1637del (p.Met544_Ala545del)
c.276+16402_276+16407del (n.276+16402_276+16407del)
c.*220+6140_*220+6145del (n.*220+6140_*220+6145del)
c.756_761del (p.Met252_Ala253del)
c.783_788del (p.Met261_Ala262del)
c.1638_1643del (p.Met546_Ala547del)
c.1452_1457del (p.Met484_Ala485del)
c.1371_1376del (p.Met457_Ala458del)
c.1077_1082del (p.Met359_Ala360del)
c.1458_1463del (p.Met486_Ala487del)
 gnomAD v4
2g.48688084C>ACA346745029GTF2A1L,LHCGR,STON1-GTF2A1Lc.1713G>T (p.Met571Ile)
c.*25G>T (n.*25G>T)
c.3441+16404C>A (n.3441+16404C>A)
c.*457G>T (n.*457G>T)
c.1632G>T (p.Met544Ile)
c.276+16404C>A (n.276+16404C>A)
c.*220+6140G>T (n.*220+6140G>T)
c.756G>T (p.Met252Ile)
c.783G>T (p.Met261Ile)
c.1638G>T (p.Met546Ile)
c.1452G>T (p.Met484Ile)
c.1371G>T (p.Met457Ile)
c.1077G>T (p.Met359Ile)
c.1458G>T (p.Met486Ile)
 ClinVar dbSNP
2g.48688084C=CA1248600982GTF2A1L,LHCGR,STON1-GTF2A1Lc.1713G= (p.Met571=)
c.*25G= (n.*25G=)
c.3441+16404C= (n.3441+16404C=)
c.*457G= (n.*457G=)
c.1632G= (p.Met544=)
c.276+16404C= (n.276+16404C=)
c.*220+6140G= (n.*220+6140G=)
c.756G= (p.Met252=)
c.783G= (p.Met261=)
c.1638G= (p.Met546=)
c.1452G= (p.Met484=)
c.1371G= (p.Met457=)
c.1077G= (p.Met359=)
c.1458G= (p.Met486=)
2g.48688084C>GCA346745030GTF2A1L,LHCGR,STON1-GTF2A1Lc.1713G>C (p.Met571Ile)
c.*25G>C (n.*25G>C)
c.3441+16404C>G (n.3441+16404C>G)
c.*457G>C (n.*457G>C)
c.1632G>C (p.Met544Ile)
c.276+16404C>G (n.276+16404C>G)
c.*220+6140G>C (n.*220+6140G>C)
c.756G>C (p.Met252Ile)
c.783G>C (p.Met261Ile)
c.1638G>C (p.Met546Ile)
c.1452G>C (p.Met484Ile)
c.1371G>C (p.Met457Ile)
c.1077G>C (p.Met359Ile)
c.1458G>C (p.Met486Ile)
2g.48688084C>TCA123917GTF2A1L,LHCGR,STON1-GTF2A1Lc.1713G>A (p.Met571Ile)
c.*25G>A (n.*25G>A)
c.3441+16404C>T (n.3441+16404C>T)
c.*457G>A (n.*457G>A)
c.1632G>A (p.Met544Ile)
c.276+16404C>T (n.276+16404C>T)
c.*220+6140G>A (n.*220+6140G>A)
c.756G>A (p.Met252Ile)
c.783G>A (p.Met261Ile)
c.1638G>A (p.Met546Ile)
c.1452G>A (p.Met484Ile)
c.1371G>A (p.Met457Ile)
c.1077G>A (p.Met359Ile)
c.1458G>A (p.Met486Ile)
 ClinVar dbSNP
2g.48688085A=CA1248600983GTF2A1L,LHCGR,STON1-GTF2A1Lc.1712T= (p.Met571=)
c.*24T= (n.*24T=)
c.3441+16405A= (n.3441+16405A=)
c.*456T= (n.*456T=)
c.1631T= (p.Met544=)
c.276+16405A= (n.276+16405A=)
c.*220+6139T= (n.*220+6139T=)
c.755T= (p.Met252=)
c.782T= (p.Met261=)
c.1637T= (p.Met546=)
c.1451T= (p.Met484=)
c.1370T= (p.Met457=)
c.1076T= (p.Met359=)
c.1457T= (p.Met486=)
2g.48688085A>CCA346745037GTF2A1L,LHCGR,STON1-GTF2A1Lc.1712T>G (p.Met571Arg)
c.*24T>G (n.*24T>G)
c.3441+16405A>C (n.3441+16405A>C)
c.*456T>G (n.*456T>G)
c.1631T>G (p.Met544Arg)
c.276+16405A>C (n.276+16405A>C)
c.*220+6139T>G (n.*220+6139T>G)
c.755T>G (p.Met252Arg)
c.782T>G (p.Met261Arg)
c.1637T>G (p.Met546Arg)
c.1451T>G (p.Met484Arg)
c.1370T>G (p.Met457Arg)
c.1076T>G (p.Met359Arg)
c.1457T>G (p.Met486Arg)
2g.48688085A>GCA346745032GTF2A1L,LHCGR,STON1-GTF2A1Lc.1712T>C (p.Met571Thr)
c.*24T>C (n.*24T>C)
c.3441+16405A>G (n.3441+16405A>G)
c.*456T>C (n.*456T>C)
c.1631T>C (p.Met544Thr)
c.276+16405A>G (n.276+16405A>G)
c.*220+6139T>C (n.*220+6139T>C)
c.755T>C (p.Met252Thr)
c.782T>C (p.Met261Thr)
c.1637T>C (p.Met546Thr)
c.1451T>C (p.Met484Thr)
c.1370T>C (p.Met457Thr)
c.1076T>C (p.Met359Thr)
c.1457T>C (p.Met486Thr)
 dbSNP gnomAD v4 COSMIC
2g.48688085A>TCA346745033GTF2A1L,LHCGR,STON1-GTF2A1Lc.1712T>A (p.Met571Lys)
c.*24T>A (n.*24T>A)
c.3441+16405A>T (n.3441+16405A>T)
c.*456T>A (n.*456T>A)
c.1631T>A (p.Met544Lys)
c.276+16405A>T (n.276+16405A>T)
c.*220+6139T>A (n.*220+6139T>A)
c.755T>A (p.Met252Lys)
c.782T>A (p.Met261Lys)
c.1637T>A (p.Met546Lys)
c.1451T>A (p.Met484Lys)
c.1370T>A (p.Met457Lys)
c.1076T>A (p.Met359Lys)
c.1457T>A (p.Met486Lys)
2g.48688086T>ACA346745039GTF2A1L,LHCGR,STON1-GTF2A1Lc.1711A>T (p.Met571Leu)
c.*23A>T (n.*23A>T)
c.3441+16406T>A (n.3441+16406T>A)
c.*455A>T (n.*455A>T)
c.1630A>T (p.Met544Leu)
c.276+16406T>A (n.276+16406T>A)
c.*220+6138A>T (n.*220+6138A>T)
c.754A>T (p.Met252Leu)
c.781A>T (p.Met261Leu)
c.1636A>T (p.Met546Leu)
c.1450A>T (p.Met484Leu)
c.1369A>T (p.Met457Leu)
c.1075A>T (p.Met359Leu)
c.1456A>T (p.Met486Leu)
2g.48688086T>CCA346745040GTF2A1L,LHCGR,STON1-GTF2A1Lc.1711A>G (p.Met571Val)
c.*23A>G (n.*23A>G)
c.3441+16406T>C (n.3441+16406T>C)
c.*455A>G (n.*455A>G)
c.1630A>G (p.Met544Val)
c.276+16406T>C (n.276+16406T>C)
c.*220+6138A>G (n.*220+6138A>G)
c.754A>G (p.Met252Val)
c.781A>G (p.Met261Val)
c.1636A>G (p.Met546Val)
c.1450A>G (p.Met484Val)
c.1369A>G (p.Met457Val)
c.1075A>G (p.Met359Val)
c.1456A>G (p.Met486Val)
2g.48688086T>GCA346745044GTF2A1L,LHCGR,STON1-GTF2A1Lc.1711A>C (p.Met571Leu)
c.*23A>C (n.*23A>C)
c.3441+16406T>G (n.3441+16406T>G)
c.*455A>C (n.*455A>C)
c.1630A>C (p.Met544Leu)
c.276+16406T>G (n.276+16406T>G)
c.*220+6138A>C (n.*220+6138A>C)
c.754A>C (p.Met252Leu)
c.781A>C (p.Met261Leu)
c.1636A>C (p.Met546Leu)
c.1450A>C (p.Met484Leu)
c.1369A>C (p.Met457Leu)
c.1075A>C (p.Met359Leu)
c.1456A>C (p.Met486Leu)
2g.48688089delCA2658992081GTF2A1L,LHCGR,STON1-GTF2A1Lc.1711del (p.Met571TrpfsTer?)
c.*23del (n.*23del)
c.3441+16409del (n.3441+16409del)
c.*455del (n.*455del)
c.1630del (p.Met544TrpfsTer?)
c.276+16409del (n.276+16409del)
c.*220+6138del (n.*220+6138del)
c.754del (p.Met252TrpfsTer?)
c.781del (p.Met261TrpfsTer?)
c.1636del (p.Met546TrpfsTer?)
c.1450del (p.Met484TrpfsTer?)
c.1369del (p.Met457TrpfsTer?)
c.1075del (p.Met359TrpfsTer?)
c.1456del (p.Met486TrpfsTer?)
 gnomAD v4
2g.48688087T>ACA346745049GTF2A1L,LHCGR,STON1-GTF2A1Lc.1710A>T (p.Lys570Asn)
c.*22A>T (n.*22A>T)
c.3441+16407T>A (n.3441+16407T>A)
c.*454A>T (n.*454A>T)
c.1629A>T (p.Lys543Asn)
c.276+16407T>A (n.276+16407T>A)
c.*220+6137A>T (n.*220+6137A>T)
c.753A>T (p.Lys251Asn)
c.780A>T (p.Lys260Asn)
c.1635A>T (p.Lys545Asn)
c.1449A>T (p.Lys483Asn)
c.1368A>T (p.Lys456Asn)
c.1074A>T (p.Lys358Asn)
c.1455A>T (p.Lys485Asn)
 gnomAD v4
2g.48688087T>CCA426124953GTF2A1L,LHCGR,STON1-GTF2A1Lc.1710A>G (p.Lys570=)
c.*22A>G (n.*22A>G)
c.3441+16407T>C (n.3441+16407T>C)
c.*454A>G (n.*454A>G)
c.1629A>G (p.Lys543=)
c.276+16407T>C (n.276+16407T>C)
c.*220+6137A>G (n.*220+6137A>G)
c.753A>G (p.Lys251=)
c.780A>G (p.Lys260=)
c.1635A>G (p.Lys545=)
c.1449A>G (p.Lys483=)
c.1368A>G (p.Lys456=)
c.1074A>G (p.Lys358=)
c.1455A>G (p.Lys485=)
2g.48688087T>GCA346745051GTF2A1L,LHCGR,STON1-GTF2A1Lc.1710A>C (p.Lys570Asn)
c.*22A>C (n.*22A>C)
c.3441+16407T>G (n.3441+16407T>G)
c.*454A>C (n.*454A>C)
c.1629A>C (p.Lys543Asn)
c.276+16407T>G (n.276+16407T>G)
c.*220+6137A>C (n.*220+6137A>C)
c.753A>C (p.Lys251Asn)
c.780A>C (p.Lys260Asn)
c.1635A>C (p.Lys545Asn)
c.1449A>C (p.Lys483Asn)
c.1368A>C (p.Lys456Asn)
c.1074A>C (p.Lys358Asn)
c.1455A>C (p.Lys485Asn)
2g.48688088T>ACA346745052GTF2A1L,LHCGR,STON1-GTF2A1Lc.1709A>T (p.Lys570Ile)
c.*21A>T (n.*21A>T)
c.3441+16408T>A (n.3441+16408T>A)
c.*453A>T (n.*453A>T)
c.1628A>T (p.Lys543Ile)
c.276+16408T>A (n.276+16408T>A)
c.*220+6136A>T (n.*220+6136A>T)
c.752A>T (p.Lys251Ile)
c.779A>T (p.Lys260Ile)
c.1634A>T (p.Lys545Ile)
c.1448A>T (p.Lys483Ile)
c.1367A>T (p.Lys456Ile)
c.1073A>T (p.Lys358Ile)
c.1454A>T (p.Lys485Ile)
2g.48688088T>CCA346745056GTF2A1L,LHCGR,STON1-GTF2A1Lc.1709A>G (p.Lys570Arg)
c.*21A>G (n.*21A>G)
c.3441+16408T>C (n.3441+16408T>C)
c.*453A>G (n.*453A>G)
c.1628A>G (p.Lys543Arg)
c.276+16408T>C (n.276+16408T>C)
c.*220+6136A>G (n.*220+6136A>G)
c.752A>G (p.Lys251Arg)
c.779A>G (p.Lys260Arg)
c.1634A>G (p.Lys545Arg)
c.1448A>G (p.Lys483Arg)
c.1367A>G (p.Lys456Arg)
c.1073A>G (p.Lys358Arg)
c.1454A>G (p.Lys485Arg)
2g.48688088T>GCA346745054GTF2A1L,LHCGR,STON1-GTF2A1Lc.1709A>C (p.Lys570Thr)
c.*21A>C (n.*21A>C)
c.3441+16408T>G (n.3441+16408T>G)
c.*453A>C (n.*453A>C)
c.1628A>C (p.Lys543Thr)
c.276+16408T>G (n.276+16408T>G)
c.*220+6136A>C (n.*220+6136A>C)
c.752A>C (p.Lys251Thr)
c.779A>C (p.Lys260Thr)
c.1634A>C (p.Lys545Thr)
c.1448A>C (p.Lys483Thr)
c.1367A>C (p.Lys456Thr)
c.1073A>C (p.Lys358Thr)
c.1454A>C (p.Lys485Thr)
2g.48688089T>ACA346745057GTF2A1L,LHCGR,STON1-GTF2A1Lc.1708A>T (p.Lys570Ter)
c.*20A>T (n.*20A>T)
c.3441+16409T>A (n.3441+16409T>A)
c.*452A>T (n.*452A>T)
c.1627A>T (p.Lys543Ter)
c.276+16409T>A (n.276+16409T>A)
c.*220+6135A>T (n.*220+6135A>T)
c.751A>T (p.Lys251Ter)
c.778A>T (p.Lys260Ter)
c.1633A>T (p.Lys545Ter)
c.1447A>T (p.Lys483Ter)
c.1366A>T (p.Lys456Ter)
c.1072A>T (p.Lys358Ter)
c.1453A>T (p.Lys485Ter)
 dbSNP
2g.48688089T>CCA346745059GTF2A1L,LHCGR,STON1-GTF2A1Lc.1708A>G (p.Lys570Glu)
c.*20A>G (n.*20A>G)
c.3441+16409T>C (n.3441+16409T>C)
c.*452A>G (n.*452A>G)
c.1627A>G (p.Lys543Glu)
c.276+16409T>C (n.276+16409T>C)
c.*220+6135A>G (n.*220+6135A>G)
c.751A>G (p.Lys251Glu)
c.778A>G (p.Lys260Glu)
c.1633A>G (p.Lys545Glu)
c.1447A>G (p.Lys483Glu)
c.1366A>G (p.Lys456Glu)
c.1072A>G (p.Lys358Glu)
c.1453A>G (p.Lys485Glu)
2g.48688089T>GCA346745065GTF2A1L,LHCGR,STON1-GTF2A1Lc.1708A>C (p.Lys570Gln)
c.*20A>C (n.*20A>C)
c.3441+16409T>G (n.3441+16409T>G)
c.*452A>C (n.*452A>C)
c.1627A>C (p.Lys543Gln)
c.276+16409T>G (n.276+16409T>G)
c.*220+6135A>C (n.*220+6135A>C)
c.751A>C (p.Lys251Gln)
c.778A>C (p.Lys260Gln)
c.1633A>C (p.Lys545Gln)
c.1447A>C (p.Lys483Gln)
c.1366A>C (p.Lys456Gln)
c.1072A>C (p.Lys358Gln)
c.1453A>C (p.Lys485Gln)
 gnomAD v4
2g.48688089T=CA1248600984GTF2A1L,LHCGR,STON1-GTF2A1Lc.1708A= (p.Lys570=)
c.*20A= (n.*20A=)
c.3441+16409T= (n.3441+16409T=)
c.*452A= (n.*452A=)
c.1627A= (p.Lys543=)
c.276+16409T= (n.276+16409T=)
c.*220+6135A= (n.*220+6135A=)
c.751A= (p.Lys251=)
c.778A= (p.Lys260=)
c.1633A= (p.Lys545=)
c.1447A= (p.Lys483=)
c.1366A= (p.Lys456=)
c.1072A= (p.Lys358=)
c.1453A= (p.Lys485=)
2g.48688090C>ACA346745068GTF2A1L,LHCGR,STON1-GTF2A1Lc.1707G>T (p.Lys569Asn)
c.*19G>T (n.*19G>T)
c.3441+16410C>A (n.3441+16410C>A)
c.*451G>T (n.*451G>T)
c.1626G>T (p.Lys542Asn)
c.276+16410C>A (n.276+16410C>A)
c.*220+6134G>T (n.*220+6134G>T)
c.750G>T (p.Lys250Asn)
c.777G>T (p.Lys259Asn)
c.1632G>T (p.Lys544Asn)
c.1446G>T (p.Lys482Asn)
c.1365G>T (p.Lys455Asn)
c.1071G>T (p.Lys357Asn)
c.1452G>T (p.Lys484Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.48688090C=CA1248600985GTF2A1L,LHCGR,STON1-GTF2A1Lc.1707G= (p.Lys569=)
c.*19G= (n.*19G=)
c.3441+16410C= (n.3441+16410C=)
c.*451G= (n.*451G=)
c.1626G= (p.Lys542=)
c.276+16410C= (n.276+16410C=)
c.*220+6134G= (n.*220+6134G=)
c.750G= (p.Lys250=)
c.777G= (p.Lys259=)
c.1632G= (p.Lys544=)
c.1446G= (p.Lys482=)
c.1365G= (p.Lys455=)
c.1071G= (p.Lys357=)
c.1452G= (p.Lys484=)
2g.48688090C>GCA346745082GTF2A1L,LHCGR,STON1-GTF2A1Lc.1707G>C (p.Lys569Asn)
c.*19G>C (n.*19G>C)
c.3441+16410C>G (n.3441+16410C>G)
c.*451G>C (n.*451G>C)
c.1626G>C (p.Lys542Asn)
c.276+16410C>G (n.276+16410C>G)
c.*220+6134G>C (n.*220+6134G>C)
c.750G>C (p.Lys250Asn)
c.777G>C (p.Lys259Asn)
c.1632G>C (p.Lys544Asn)
c.1446G>C (p.Lys482Asn)
c.1365G>C (p.Lys455Asn)
c.1071G>C (p.Lys357Asn)
c.1452G>C (p.Lys484Asn)
2g.48688090C>TCA426124958GTF2A1L,LHCGR,STON1-GTF2A1Lc.1707G>A (p.Lys569=)
c.*19G>A (n.*19G>A)
c.3441+16410C>T (n.3441+16410C>T)
c.*451G>A (n.*451G>A)
c.1626G>A (p.Lys542=)
c.276+16410C>T (n.276+16410C>T)
c.*220+6134G>A (n.*220+6134G>A)
c.750G>A (p.Lys250=)
c.777G>A (p.Lys259=)
c.1632G>A (p.Lys544=)
c.1446G>A (p.Lys482=)
c.1365G>A (p.Lys455=)
c.1071G>A (p.Lys357=)
c.1452G>A (p.Lys484=)
2g.48688091T>ACA346745086GTF2A1L,LHCGR,STON1-GTF2A1Lc.1706A>T (p.Lys569Met)
c.*18A>T (n.*18A>T)
c.3441+16411T>A (n.3441+16411T>A)
c.*450A>T (n.*450A>T)
c.1625A>T (p.Lys542Met)
c.276+16411T>A (n.276+16411T>A)
c.*220+6133A>T (n.*220+6133A>T)
c.749A>T (p.Lys250Met)
c.776A>T (p.Lys259Met)
c.1631A>T (p.Lys544Met)
c.1445A>T (p.Lys482Met)
c.1364A>T (p.Lys455Met)
c.1070A>T (p.Lys357Met)
c.1451A>T (p.Lys484Met)
2g.48688091T>CCA346745087GTF2A1L,LHCGR,STON1-GTF2A1Lc.1706A>G (p.Lys569Arg)
c.*18A>G (n.*18A>G)
c.3441+16411T>C (n.3441+16411T>C)
c.*450A>G (n.*450A>G)
c.1625A>G (p.Lys542Arg)
c.276+16411T>C (n.276+16411T>C)
c.*220+6133A>G (n.*220+6133A>G)
c.749A>G (p.Lys250Arg)
c.776A>G (p.Lys259Arg)
c.1631A>G (p.Lys544Arg)
c.1445A>G (p.Lys482Arg)
c.1364A>G (p.Lys455Arg)
c.1070A>G (p.Lys357Arg)
c.1451A>G (p.Lys484Arg)
 gnomAD v4
2g.48688091T>GCA346745089GTF2A1L,LHCGR,STON1-GTF2A1Lc.1706A>C (p.Lys569Thr)
c.*18A>C (n.*18A>C)
c.3441+16411T>G (n.3441+16411T>G)
c.*450A>C (n.*450A>C)
c.1625A>C (p.Lys542Thr)
c.276+16411T>G (n.276+16411T>G)
c.*220+6133A>C (n.*220+6133A>C)
c.749A>C (p.Lys250Thr)
c.776A>C (p.Lys259Thr)
c.1631A>C (p.Lys544Thr)
c.1445A>C (p.Lys482Thr)
c.1364A>C (p.Lys455Thr)
c.1070A>C (p.Lys357Thr)
c.1451A>C (p.Lys484Thr)
2g.48688092T>ACA346745091GTF2A1L,LHCGR,STON1-GTF2A1Lc.1705A>T (p.Lys569Ter)
c.*17A>T (n.*17A>T)
c.3441+16412T>A (n.3441+16412T>A)
c.*449A>T (n.*449A>T)
c.1624A>T (p.Lys542Ter)
c.276+16412T>A (n.276+16412T>A)
c.*220+6132A>T (n.*220+6132A>T)
c.748A>T (p.Lys250Ter)
c.775A>T (p.Lys259Ter)
c.1630A>T (p.Lys544Ter)
c.1444A>T (p.Lys482Ter)
c.1363A>T (p.Lys455Ter)
c.1069A>T (p.Lys357Ter)
c.1450A>T (p.Lys484Ter)
2g.48688092T>CCA346745092GTF2A1L,LHCGR,STON1-GTF2A1Lc.1705A>G (p.Lys569Glu)
c.*17A>G (n.*17A>G)
c.3441+16412T>C (n.3441+16412T>C)
c.*449A>G (n.*449A>G)
c.1624A>G (p.Lys542Glu)
c.276+16412T>C (n.276+16412T>C)
c.*220+6132A>G (n.*220+6132A>G)
c.748A>G (p.Lys250Glu)
c.775A>G (p.Lys259Glu)
c.1630A>G (p.Lys544Glu)
c.1444A>G (p.Lys482Glu)
c.1363A>G (p.Lys455Glu)
c.1069A>G (p.Lys357Glu)
c.1450A>G (p.Lys484Glu)
2g.48688092T>GCA346745095GTF2A1L,LHCGR,STON1-GTF2A1Lc.1705A>C (p.Lys569Gln)
c.*17A>C (n.*17A>C)
c.3441+16412T>G (n.3441+16412T>G)
c.*449A>C (n.*449A>C)
c.1624A>C (p.Lys542Gln)
c.276+16412T>G (n.276+16412T>G)
c.*220+6132A>C (n.*220+6132A>C)
c.748A>C (p.Lys250Gln)
c.775A>C (p.Lys259Gln)
c.1630A>C (p.Lys544Gln)
c.1444A>C (p.Lys482Gln)
c.1363A>C (p.Lys455Gln)
c.1069A>C (p.Lys357Gln)
c.1450A>C (p.Lys484Gln)
2g.48688093A=CA1248600986GTF2A1L,LHCGR,STON1-GTF2A1Lc.1704T= (p.Ala568=)
c.*16T= (n.*16T=)
c.3441+16413A= (n.3441+16413A=)
c.*448T= (n.*448T=)
c.1623T= (p.Ala541=)
c.276+16413A= (n.276+16413A=)
c.*220+6131T= (n.*220+6131T=)
c.747T= (p.Ala249=)
c.774T= (p.Ala258=)
c.1629T= (p.Ala543=)
c.1443T= (p.Ala481=)
c.1362T= (p.Ala454=)
c.1068T= (p.Ala356=)
c.1449T= (p.Ala483=)
2g.48688093A>CCA426124960GTF2A1L,LHCGR,STON1-GTF2A1Lc.1704T>G (p.Ala568=)
c.*16T>G (n.*16T>G)
c.3441+16413A>C (n.3441+16413A>C)
c.*448T>G (n.*448T>G)
c.1623T>G (p.Ala541=)
c.276+16413A>C (n.276+16413A>C)
c.*220+6131T>G (n.*220+6131T>G)
c.747T>G (p.Ala249=)
c.774T>G (p.Ala258=)
c.1629T>G (p.Ala543=)
c.1443T>G (p.Ala481=)
c.1362T>G (p.Ala454=)
c.1068T>G (p.Ala356=)
c.1449T>G (p.Ala483=)
2g.48688093A>GCA426124961GTF2A1L,LHCGR,STON1-GTF2A1Lc.1704T>C (p.Ala568=)
c.*16T>C (n.*16T>C)
c.3441+16413A>G (n.3441+16413A>G)
c.*448T>C (n.*448T>C)
c.1623T>C (p.Ala541=)
c.276+16413A>G (n.276+16413A>G)
c.*220+6131T>C (n.*220+6131T>C)
c.747T>C (p.Ala249=)
c.774T>C (p.Ala258=)
c.1629T>C (p.Ala543=)
c.1443T>C (p.Ala481=)
c.1362T>C (p.Ala454=)
c.1068T>C (p.Ala356=)
c.1449T>C (p.Ala483=)
2g.48688093A>TCA426124962GTF2A1L,LHCGR,STON1-GTF2A1Lc.1704T>A (p.Ala568=)
c.*16T>A (n.*16T>A)
c.3441+16413A>T (n.3441+16413A>T)
c.*448T>A (n.*448T>A)
c.1623T>A (p.Ala541=)
c.276+16413A>T (n.276+16413A>T)
c.*220+6131T>A (n.*220+6131T>A)
c.747T>A (p.Ala249=)
c.774T>A (p.Ala258=)
c.1629T>A (p.Ala543=)
c.1443T>A (p.Ala481=)
c.1362T>A (p.Ala454=)
c.1068T>A (p.Ala356=)
c.1449T>A (p.Ala483=)
 dbSNP gnomAD v2 gnomAD v4
2g.48688094G>ACA123933GTF2A1L,LHCGR,STON1-GTF2A1Lc.1703C>T (p.Ala568Val)
c.*15C>T (n.*15C>T)
c.3441+16414G>A (n.3441+16414G>A)
c.*447C>T (n.*447C>T)
c.1622C>T (p.Ala541Val)
c.276+16414G>A (n.276+16414G>A)
c.*220+6130C>T (n.*220+6130C>T)
c.746C>T (p.Ala249Val)
c.773C>T (p.Ala258Val)
c.1628C>T (p.Ala543Val)
c.1442C>T (p.Ala481Val)
c.1361C>T (p.Ala454Val)
c.1067C>T (p.Ala356Val)
c.1448C>T (p.Ala483Val)
 ClinVar dbSNP
2g.48688094G>CCA346745111GTF2A1L,LHCGR,STON1-GTF2A1Lc.1703C>G (p.Ala568Gly)
c.*15C>G (n.*15C>G)
c.3441+16414G>C (n.3441+16414G>C)
c.*447C>G (n.*447C>G)
c.1622C>G (p.Ala541Gly)
c.276+16414G>C (n.276+16414G>C)
c.*220+6130C>G (n.*220+6130C>G)
c.746C>G (p.Ala249Gly)
c.773C>G (p.Ala258Gly)
c.1628C>G (p.Ala543Gly)
c.1442C>G (p.Ala481Gly)
c.1361C>G (p.Ala454Gly)
c.1067C>G (p.Ala356Gly)
c.1448C>G (p.Ala483Gly)
2g.48688094G=CA1248600987GTF2A1L,LHCGR,STON1-GTF2A1Lc.1703C= (p.Ala568=)
c.*15C= (n.*15C=)
c.3441+16414G= (n.3441+16414G=)
c.*447C= (n.*447C=)
c.1622C= (p.Ala541=)
c.276+16414G= (n.276+16414G=)
c.*220+6130C= (n.*220+6130C=)
c.746C= (p.Ala249=)
c.773C= (p.Ala258=)
c.1628C= (p.Ala543=)
c.1442C= (p.Ala481=)
c.1361C= (p.Ala454=)
c.1067C= (p.Ala356=)
c.1448C= (p.Ala483=)
2g.48688094G>TCA346745104GTF2A1L,LHCGR,STON1-GTF2A1Lc.1703C>A (p.Ala568Asp)
c.*15C>A (n.*15C>A)
c.3441+16414G>T (n.3441+16414G>T)
c.*447C>A (n.*447C>A)
c.1622C>A (p.Ala541Asp)
c.276+16414G>T (n.276+16414G>T)
c.*220+6130C>A (n.*220+6130C>A)
c.746C>A (p.Ala249Asp)
c.773C>A (p.Ala258Asp)
c.1628C>A (p.Ala543Asp)
c.1442C>A (p.Ala481Asp)
c.1361C>A (p.Ala454Asp)
c.1067C>A (p.Ala356Asp)
c.1448C>A (p.Ala483Asp)
 dbSNP gnomAD v3 gnomAD v4
2g.48688095C>ACA346745114GTF2A1L,LHCGR,STON1-GTF2A1Lc.1702G>T (p.Ala568Ser)
c.*14G>T (n.*14G>T)
c.3441+16415C>A (n.3441+16415C>A)
c.*446G>T (n.*446G>T)
c.1621G>T (p.Ala541Ser)
c.276+16415C>A (n.276+16415C>A)
c.*220+6129G>T (n.*220+6129G>T)
c.745G>T (p.Ala249Ser)
c.772G>T (p.Ala258Ser)
c.1627G>T (p.Ala543Ser)
c.1441G>T (p.Ala481Ser)
c.1360G>T (p.Ala454Ser)
c.1066G>T (p.Ala356Ser)
c.1447G>T (p.Ala483Ser)
2g.48688095C>GCA346745118GTF2A1L,LHCGR,STON1-GTF2A1Lc.1702G>C (p.Ala568Pro)
c.*14G>C (n.*14G>C)
c.3441+16415C>G (n.3441+16415C>G)
c.*446G>C (n.*446G>C)
c.1621G>C (p.Ala541Pro)
c.276+16415C>G (n.276+16415C>G)
c.*220+6129G>C (n.*220+6129G>C)
c.745G>C (p.Ala249Pro)
c.772G>C (p.Ala258Pro)
c.1627G>C (p.Ala543Pro)
c.1441G>C (p.Ala481Pro)
c.1360G>C (p.Ala454Pro)
c.1066G>C (p.Ala356Pro)
c.1447G>C (p.Ala483Pro)
2g.48688095C>TCA346745121GTF2A1L,LHCGR,STON1-GTF2A1Lc.1702G>A (p.Ala568Thr)
c.*14G>A (n.*14G>A)
c.3441+16415C>T (n.3441+16415C>T)
c.*446G>A (n.*446G>A)
c.1621G>A (p.Ala541Thr)
c.276+16415C>T (n.276+16415C>T)
c.*220+6129G>A (n.*220+6129G>A)
c.745G>A (p.Ala249Thr)
c.772G>A (p.Ala258Thr)
c.1627G>A (p.Ala543Thr)
c.1441G>A (p.Ala481Thr)
c.1360G>A (p.Ala454Thr)
c.1066G>A (p.Ala356Thr)
c.1447G>A (p.Ala483Thr)
2g.48688096A=CA1248600988GTF2A1L,LHCGR,STON1-GTF2A1Lc.1701T= (p.Ile567=)
c.*13T= (n.*13T=)
c.3441+16416A= (n.3441+16416A=)
c.*445T= (n.*445T=)
c.1620T= (p.Ile540=)
c.276+16416A= (n.276+16416A=)
c.*220+6128T= (n.*220+6128T=)
c.744T= (p.Ile248=)
c.771T= (p.Ile257=)
c.1626T= (p.Ile542=)
c.1440T= (p.Ile480=)
c.1359T= (p.Ile453=)
c.1065T= (p.Ile355=)
c.1446T= (p.Ile482=)
2g.48688096A>CCA346745124GTF2A1L,LHCGR,STON1-GTF2A1Lc.1701T>G (p.Ile567Met)
c.*13T>G (n.*13T>G)
c.3441+16416A>C (n.3441+16416A>C)
c.*445T>G (n.*445T>G)
c.1620T>G (p.Ile540Met)
c.276+16416A>C (n.276+16416A>C)
c.*220+6128T>G (n.*220+6128T>G)
c.744T>G (p.Ile248Met)
c.771T>G (p.Ile257Met)
c.1626T>G (p.Ile542Met)
c.1440T>G (p.Ile480Met)
c.1359T>G (p.Ile453Met)
c.1065T>G (p.Ile355Met)
c.1446T>G (p.Ile482Met)
 gnomAD v4
2g.48688096A>GCA426124965GTF2A1L,LHCGR,STON1-GTF2A1Lc.1701T>C (p.Ile567=)
c.*13T>C (n.*13T>C)
c.3441+16416A>G (n.3441+16416A>G)
c.*445T>C (n.*445T>C)
c.1620T>C (p.Ile540=)
c.276+16416A>G (n.276+16416A>G)
c.*220+6128T>C (n.*220+6128T>C)
c.744T>C (p.Ile248=)
c.771T>C (p.Ile257=)
c.1626T>C (p.Ile542=)
c.1440T>C (p.Ile480=)
c.1359T>C (p.Ile453=)
c.1065T>C (p.Ile355=)
c.1446T>C (p.Ile482=)
2g.48688096A>TCA46752825GTF2A1L,LHCGR,STON1-GTF2A1Lc.1701T>A (p.Ile567=)
c.*13T>A (n.*13T>A)
c.3441+16416A>T (n.3441+16416A>T)
c.*445T>A (n.*445T>A)
c.1620T>A (p.Ile540=)
c.276+16416A>T (n.276+16416A>T)
c.*220+6128T>A (n.*220+6128T>A)
c.744T>A (p.Ile248=)
c.771T>A (p.Ile257=)
c.1626T>A (p.Ile542=)
c.1440T>A (p.Ile480=)
c.1359T>A (p.Ile453=)
c.1065T>A (p.Ile355=)
c.1446T>A (p.Ile482=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688097A>CCA346745131GTF2A1L,LHCGR,STON1-GTF2A1Lc.1700T>G (p.Ile567Ser)
c.*12T>G (n.*12T>G)
c.3441+16417A>C (n.3441+16417A>C)
c.*444T>G (n.*444T>G)
c.1619T>G (p.Ile540Ser)
c.276+16417A>C (n.276+16417A>C)
c.*220+6127T>G (n.*220+6127T>G)
c.743T>G (p.Ile248Ser)
c.770T>G (p.Ile257Ser)
c.1625T>G (p.Ile542Ser)
c.1439T>G (p.Ile480Ser)
c.1358T>G (p.Ile453Ser)
c.1064T>G (p.Ile355Ser)
c.1445T>G (p.Ile482Ser)
2g.48688097A>GCA346745134GTF2A1L,LHCGR,STON1-GTF2A1Lc.1700T>C (p.Ile567Thr)
c.*12T>C (n.*12T>C)
c.3441+16417A>G (n.3441+16417A>G)
c.*444T>C (n.*444T>C)
c.1619T>C (p.Ile540Thr)
c.276+16417A>G (n.276+16417A>G)
c.*220+6127T>C (n.*220+6127T>C)
c.743T>C (p.Ile248Thr)
c.770T>C (p.Ile257Thr)
c.1625T>C (p.Ile542Thr)
c.1439T>C (p.Ile480Thr)
c.1358T>C (p.Ile453Thr)
c.1064T>C (p.Ile355Thr)
c.1445T>C (p.Ile482Thr)

Number of alleles fetched