Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48688756T>ACA426124790GTF2A1L,LHCGR,STON1-GTF2A1Lc.1041A>T (p.Pro347=)
c.948-617A>T (n.948-617A>T)
c.3441+17076T>A (n.3441+17076T>A)
c.948-173A>T (n.948-173A>T)
c.960A>T (p.Pro320=)
c.276+17076T>A (n.276+17076T>A)
c.*220+5468A>T (n.*220+5468A>T)
c.84A>T (p.Pro28=)
c.111A>T (p.Pro37=)
c.966A>T (p.Pro322=)
c.780A>T (p.Pro260=)
c.699A>T (p.Pro233=)
c.405A>T (p.Pro135=)
c.786A>T (p.Pro262=)
2g.48688756T>CCA426124791GTF2A1L,LHCGR,STON1-GTF2A1Lc.1041A>G (p.Pro347=)
c.948-617A>G (n.948-617A>G)
c.3441+17076T>C (n.3441+17076T>C)
c.948-173A>G (n.948-173A>G)
c.960A>G (p.Pro320=)
c.276+17076T>C (n.276+17076T>C)
c.*220+5468A>G (n.*220+5468A>G)
c.84A>G (p.Pro28=)
c.111A>G (p.Pro37=)
c.966A>G (p.Pro322=)
c.780A>G (p.Pro260=)
c.699A>G (p.Pro233=)
c.405A>G (p.Pro135=)
c.786A>G (p.Pro262=)
 gnomAD v4 COSMIC
2g.48688756T>GCA426124792GTF2A1L,LHCGR,STON1-GTF2A1Lc.1041A>C (p.Pro347=)
c.948-617A>C (n.948-617A>C)
c.3441+17076T>G (n.3441+17076T>G)
c.948-173A>C (n.948-173A>C)
c.960A>C (p.Pro320=)
c.276+17076T>G (n.276+17076T>G)
c.*220+5468A>C (n.*220+5468A>C)
c.84A>C (p.Pro28=)
c.111A>C (p.Pro37=)
c.966A>C (p.Pro322=)
c.780A>C (p.Pro260=)
c.699A>C (p.Pro233=)
c.405A>C (p.Pro135=)
c.786A>C (p.Pro262=)
2g.48688757G>ACA346750013GTF2A1L,LHCGR,STON1-GTF2A1Lc.1040C>T (p.Pro347Leu)
c.948-618C>T (n.948-618C>T)
c.3441+17077G>A (n.3441+17077G>A)
c.948-174C>T (n.948-174C>T)
c.959C>T (p.Pro320Leu)
c.276+17077G>A (n.276+17077G>A)
c.*220+5467C>T (n.*220+5467C>T)
c.83C>T (p.Pro28Leu)
c.110C>T (p.Pro37Leu)
c.965C>T (p.Pro322Leu)
c.779C>T (p.Pro260Leu)
c.698C>T (p.Pro233Leu)
c.404C>T (p.Pro135Leu)
c.785C>T (p.Pro262Leu)
2g.48688757G>CCA346750014GTF2A1L,LHCGR,STON1-GTF2A1Lc.1040C>G (p.Pro347Arg)
c.948-618C>G (n.948-618C>G)
c.3441+17077G>C (n.3441+17077G>C)
c.948-174C>G (n.948-174C>G)
c.959C>G (p.Pro320Arg)
c.276+17077G>C (n.276+17077G>C)
c.*220+5467C>G (n.*220+5467C>G)
c.83C>G (p.Pro28Arg)
c.110C>G (p.Pro37Arg)
c.965C>G (p.Pro322Arg)
c.779C>G (p.Pro260Arg)
c.698C>G (p.Pro233Arg)
c.404C>G (p.Pro135Arg)
c.785C>G (p.Pro262Arg)
2g.48688757G>TCA346750017GTF2A1L,LHCGR,STON1-GTF2A1Lc.1040C>A (p.Pro347Gln)
c.948-618C>A (n.948-618C>A)
c.3441+17077G>T (n.3441+17077G>T)
c.948-174C>A (n.948-174C>A)
c.959C>A (p.Pro320Gln)
c.276+17077G>T (n.276+17077G>T)
c.*220+5467C>A (n.*220+5467C>A)
c.83C>A (p.Pro28Gln)
c.110C>A (p.Pro37Gln)
c.965C>A (p.Pro322Gln)
c.779C>A (p.Pro260Gln)
c.698C>A (p.Pro233Gln)
c.404C>A (p.Pro135Gln)
c.785C>A (p.Pro262Gln)
2g.48688758G>ACA346750018GTF2A1L,LHCGR,STON1-GTF2A1Lc.1039C>T (p.Pro347Ser)
c.948-619C>T (n.948-619C>T)
c.3441+17078G>A (n.3441+17078G>A)
c.948-175C>T (n.948-175C>T)
c.958C>T (p.Pro320Ser)
c.276+17078G>A (n.276+17078G>A)
c.*220+5466C>T (n.*220+5466C>T)
c.82C>T (p.Pro28Ser)
c.109C>T (p.Pro37Ser)
c.964C>T (p.Pro322Ser)
c.778C>T (p.Pro260Ser)
c.697C>T (p.Pro233Ser)
c.403C>T (p.Pro135Ser)
c.784C>T (p.Pro262Ser)
2g.48688758G>CCA1653091GTF2A1L,LHCGR,STON1-GTF2A1Lc.1039C>G (p.Pro347Ala)
c.948-619C>G (n.948-619C>G)
c.3441+17078G>C (n.3441+17078G>C)
c.948-175C>G (n.948-175C>G)
c.958C>G (p.Pro320Ala)
c.276+17078G>C (n.276+17078G>C)
c.*220+5466C>G (n.*220+5466C>G)
c.82C>G (p.Pro28Ala)
c.109C>G (p.Pro37Ala)
c.964C>G (p.Pro322Ala)
c.778C>G (p.Pro260Ala)
c.697C>G (p.Pro233Ala)
c.403C>G (p.Pro135Ala)
c.784C>G (p.Pro262Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688758G=CA1248601259GTF2A1L,LHCGR,STON1-GTF2A1Lc.1039C= (p.Pro347=)
c.948-619C= (n.948-619C=)
c.3441+17078G= (n.3441+17078G=)
c.948-175C= (n.948-175C=)
c.958C= (p.Pro320=)
c.276+17078G= (n.276+17078G=)
c.*220+5466C= (n.*220+5466C=)
c.82C= (p.Pro28=)
c.109C= (p.Pro37=)
c.964C= (p.Pro322=)
c.778C= (p.Pro260=)
c.697C= (p.Pro233=)
c.403C= (p.Pro135=)
c.784C= (p.Pro262=)
2g.48688758G>TCA346750022GTF2A1L,LHCGR,STON1-GTF2A1Lc.1039C>A (p.Pro347Thr)
c.948-619C>A (n.948-619C>A)
c.3441+17078G>T (n.3441+17078G>T)
c.948-175C>A (n.948-175C>A)
c.958C>A (p.Pro320Thr)
c.276+17078G>T (n.276+17078G>T)
c.*220+5466C>A (n.*220+5466C>A)
c.82C>A (p.Pro28Thr)
c.109C>A (p.Pro37Thr)
c.964C>A (p.Pro322Thr)
c.778C>A (p.Pro260Thr)
c.697C>A (p.Pro233Thr)
c.403C>A (p.Pro135Thr)
c.784C>A (p.Pro262Thr)
2g.48688759T>ACA346750024GTF2A1L,LHCGR,STON1-GTF2A1Lc.1038A>T (p.Glu346Asp)
c.948-620A>T (n.948-620A>T)
c.3441+17079T>A (n.3441+17079T>A)
c.948-176A>T (n.948-176A>T)
c.957A>T (p.Glu319Asp)
c.276+17079T>A (n.276+17079T>A)
c.*220+5465A>T (n.*220+5465A>T)
c.81A>T (p.Glu27Asp)
c.108A>T (p.Glu36Asp)
c.963A>T (p.Glu321Asp)
c.777A>T (p.Glu259Asp)
c.696A>T (p.Glu232Asp)
c.402A>T (p.Glu134Asp)
c.783A>T (p.Glu261Asp)
2g.48688759T>CCA426124796GTF2A1L,LHCGR,STON1-GTF2A1Lc.1038A>G (p.Glu346=)
c.948-620A>G (n.948-620A>G)
c.3441+17079T>C (n.3441+17079T>C)
c.948-176A>G (n.948-176A>G)
c.957A>G (p.Glu319=)
c.276+17079T>C (n.276+17079T>C)
c.*220+5465A>G (n.*220+5465A>G)
c.81A>G (p.Glu27=)
c.108A>G (p.Glu36=)
c.963A>G (p.Glu321=)
c.777A>G (p.Glu259=)
c.696A>G (p.Glu232=)
c.402A>G (p.Glu134=)
c.783A>G (p.Glu261=)
2g.48688759T>GCA346750034GTF2A1L,LHCGR,STON1-GTF2A1Lc.1038A>C (p.Glu346Asp)
c.948-620A>C (n.948-620A>C)
c.3441+17079T>G (n.3441+17079T>G)
c.948-176A>C (n.948-176A>C)
c.957A>C (p.Glu319Asp)
c.276+17079T>G (n.276+17079T>G)
c.*220+5465A>C (n.*220+5465A>C)
c.81A>C (p.Glu27Asp)
c.108A>C (p.Glu36Asp)
c.963A>C (p.Glu321Asp)
c.777A>C (p.Glu259Asp)
c.696A>C (p.Glu232Asp)
c.402A>C (p.Glu134Asp)
c.783A>C (p.Glu261Asp)
2g.48688760T>ACA346750037GTF2A1L,LHCGR,STON1-GTF2A1Lc.1037A>T (p.Glu346Val)
c.948-621A>T (n.948-621A>T)
c.3441+17080T>A (n.3441+17080T>A)
c.948-177A>T (n.948-177A>T)
c.956A>T (p.Glu319Val)
c.276+17080T>A (n.276+17080T>A)
c.*220+5464A>T (n.*220+5464A>T)
c.80A>T (p.Glu27Val)
c.107A>T (p.Glu36Val)
c.962A>T (p.Glu321Val)
c.776A>T (p.Glu259Val)
c.695A>T (p.Glu232Val)
c.401A>T (p.Glu134Val)
c.782A>T (p.Glu261Val)
2g.48688760T>CCA346750048GTF2A1L,LHCGR,STON1-GTF2A1Lc.1037A>G (p.Glu346Gly)
c.948-621A>G (n.948-621A>G)
c.3441+17080T>C (n.3441+17080T>C)
c.948-177A>G (n.948-177A>G)
c.956A>G (p.Glu319Gly)
c.276+17080T>C (n.276+17080T>C)
c.*220+5464A>G (n.*220+5464A>G)
c.80A>G (p.Glu27Gly)
c.107A>G (p.Glu36Gly)
c.962A>G (p.Glu321Gly)
c.776A>G (p.Glu259Gly)
c.695A>G (p.Glu232Gly)
c.401A>G (p.Glu134Gly)
c.782A>G (p.Glu261Gly)
2g.48688760T>GCA346750040GTF2A1L,LHCGR,STON1-GTF2A1Lc.1037A>C (p.Glu346Ala)
c.948-621A>C (n.948-621A>C)
c.3441+17080T>G (n.3441+17080T>G)
c.948-177A>C (n.948-177A>C)
c.956A>C (p.Glu319Ala)
c.276+17080T>G (n.276+17080T>G)
c.*220+5464A>C (n.*220+5464A>C)
c.80A>C (p.Glu27Ala)
c.107A>C (p.Glu36Ala)
c.962A>C (p.Glu321Ala)
c.776A>C (p.Glu259Ala)
c.695A>C (p.Glu232Ala)
c.401A>C (p.Glu134Ala)
c.782A>C (p.Glu261Ala)
2g.48688761C>ACA346750049GTF2A1L,LHCGR,STON1-GTF2A1Lc.1036G>T (p.Glu346Ter)
c.948-622G>T (n.948-622G>T)
c.3441+17081C>A (n.3441+17081C>A)
c.948-178G>T (n.948-178G>T)
c.955G>T (p.Glu319Ter)
c.276+17081C>A (n.276+17081C>A)
c.*220+5463G>T (n.*220+5463G>T)
c.79G>T (p.Glu27Ter)
c.106G>T (p.Glu36Ter)
c.961G>T (p.Glu321Ter)
c.775G>T (p.Glu259Ter)
c.694G>T (p.Glu232Ter)
c.400G>T (p.Glu134Ter)
c.781G>T (p.Glu261Ter)
2g.48688761C>GCA346750053GTF2A1L,LHCGR,STON1-GTF2A1Lc.1036G>C (p.Glu346Gln)
c.948-622G>C (n.948-622G>C)
c.3441+17081C>G (n.3441+17081C>G)
c.948-178G>C (n.948-178G>C)
c.955G>C (p.Glu319Gln)
c.276+17081C>G (n.276+17081C>G)
c.*220+5463G>C (n.*220+5463G>C)
c.79G>C (p.Glu27Gln)
c.106G>C (p.Glu36Gln)
c.961G>C (p.Glu321Gln)
c.775G>C (p.Glu259Gln)
c.694G>C (p.Glu232Gln)
c.400G>C (p.Glu134Gln)
c.781G>C (p.Glu261Gln)
2g.48688761C>TCA346750051GTF2A1L,LHCGR,STON1-GTF2A1Lc.1036G>A (p.Glu346Lys)
c.948-622G>A (n.948-622G>A)
c.3441+17081C>T (n.3441+17081C>T)
c.948-178G>A (n.948-178G>A)
c.955G>A (p.Glu319Lys)
c.276+17081C>T (n.276+17081C>T)
c.*220+5463G>A (n.*220+5463G>A)
c.79G>A (p.Glu27Lys)
c.106G>A (p.Glu36Lys)
c.961G>A (p.Glu321Lys)
c.775G>A (p.Glu259Lys)
c.694G>A (p.Glu232Lys)
c.400G>A (p.Glu134Lys)
c.781G>A (p.Glu261Lys)
 COSMIC
2g.48688762A>CCA426124800GTF2A1L,LHCGR,STON1-GTF2A1Lc.1035T>G (p.Pro345=)
c.948-623T>G (n.948-623T>G)
c.3441+17082A>C (n.3441+17082A>C)
c.948-179T>G (n.948-179T>G)
c.954T>G (p.Pro318=)
c.276+17082A>C (n.276+17082A>C)
c.*220+5462T>G (n.*220+5462T>G)
c.78T>G (p.Pro26=)
c.105T>G (p.Pro35=)
c.960T>G (p.Pro320=)
c.774T>G (p.Pro258=)
c.693T>G (p.Pro231=)
c.399T>G (p.Pro133=)
c.780T>G (p.Pro260=)
2g.48688762A>GCA426124801GTF2A1L,LHCGR,STON1-GTF2A1Lc.1035T>C (p.Pro345=)
c.948-623T>C (n.948-623T>C)
c.3441+17082A>G (n.3441+17082A>G)
c.948-179T>C (n.948-179T>C)
c.954T>C (p.Pro318=)
c.276+17082A>G (n.276+17082A>G)
c.*220+5462T>C (n.*220+5462T>C)
c.78T>C (p.Pro26=)
c.105T>C (p.Pro35=)
c.960T>C (p.Pro320=)
c.774T>C (p.Pro258=)
c.693T>C (p.Pro231=)
c.399T>C (p.Pro133=)
c.780T>C (p.Pro260=)
2g.48688762A>TCA426124802GTF2A1L,LHCGR,STON1-GTF2A1Lc.1035T>A (p.Pro345=)
c.948-623T>A (n.948-623T>A)
c.3441+17082A>T (n.3441+17082A>T)
c.948-179T>A (n.948-179T>A)
c.954T>A (p.Pro318=)
c.276+17082A>T (n.276+17082A>T)
c.*220+5462T>A (n.*220+5462T>A)
c.78T>A (p.Pro26=)
c.105T>A (p.Pro35=)
c.960T>A (p.Pro320=)
c.774T>A (p.Pro258=)
c.693T>A (p.Pro231=)
c.399T>A (p.Pro133=)
c.780T>A (p.Pro260=)
2g.48688763G>ACA346750055GTF2A1L,LHCGR,STON1-GTF2A1Lc.1034C>T (p.Pro345Leu)
c.948-624C>T (n.948-624C>T)
c.3441+17083G>A (n.3441+17083G>A)
c.948-180C>T (n.948-180C>T)
c.953C>T (p.Pro318Leu)
c.276+17083G>A (n.276+17083G>A)
c.*220+5461C>T (n.*220+5461C>T)
c.77C>T (p.Pro26Leu)
c.104C>T (p.Pro35Leu)
c.959C>T (p.Pro320Leu)
c.773C>T (p.Pro258Leu)
c.692C>T (p.Pro231Leu)
c.398C>T (p.Pro133Leu)
c.779C>T (p.Pro260Leu)
2g.48688763G>CCA346750060GTF2A1L,LHCGR,STON1-GTF2A1Lc.1034C>G (p.Pro345Arg)
c.948-624C>G (n.948-624C>G)
c.3441+17083G>C (n.3441+17083G>C)
c.948-180C>G (n.948-180C>G)
c.953C>G (p.Pro318Arg)
c.276+17083G>C (n.276+17083G>C)
c.*220+5461C>G (n.*220+5461C>G)
c.77C>G (p.Pro26Arg)
c.104C>G (p.Pro35Arg)
c.959C>G (p.Pro320Arg)
c.773C>G (p.Pro258Arg)
c.692C>G (p.Pro231Arg)
c.398C>G (p.Pro133Arg)
c.779C>G (p.Pro260Arg)
2g.48688763G>TCA346750058GTF2A1L,LHCGR,STON1-GTF2A1Lc.1034C>A (p.Pro345His)
c.948-624C>A (n.948-624C>A)
c.3441+17083G>T (n.3441+17083G>T)
c.948-180C>A (n.948-180C>A)
c.953C>A (p.Pro318His)
c.276+17083G>T (n.276+17083G>T)
c.*220+5461C>A (n.*220+5461C>A)
c.77C>A (p.Pro26His)
c.104C>A (p.Pro35His)
c.959C>A (p.Pro320His)
c.773C>A (p.Pro258His)
c.692C>A (p.Pro231His)
c.398C>A (p.Pro133His)
c.779C>A (p.Pro260His)
2g.48688764G>ACA346750061GTF2A1L,LHCGR,STON1-GTF2A1Lc.1033C>T (p.Pro345Ser)
c.948-625C>T (n.948-625C>T)
c.3441+17084G>A (n.3441+17084G>A)
c.948-181C>T (n.948-181C>T)
c.952C>T (p.Pro318Ser)
c.276+17084G>A (n.276+17084G>A)
c.*220+5460C>T (n.*220+5460C>T)
c.76C>T (p.Pro26Ser)
c.103C>T (p.Pro35Ser)
c.958C>T (p.Pro320Ser)
c.772C>T (p.Pro258Ser)
c.691C>T (p.Pro231Ser)
c.397C>T (p.Pro133Ser)
c.778C>T (p.Pro260Ser)
 gnomAD v4 COSMIC
2g.48688764G>CCA346750062GTF2A1L,LHCGR,STON1-GTF2A1Lc.1033C>G (p.Pro345Ala)
c.948-625C>G (n.948-625C>G)
c.3441+17084G>C (n.3441+17084G>C)
c.948-181C>G (n.948-181C>G)
c.952C>G (p.Pro318Ala)
c.276+17084G>C (n.276+17084G>C)
c.*220+5460C>G (n.*220+5460C>G)
c.76C>G (p.Pro26Ala)
c.103C>G (p.Pro35Ala)
c.958C>G (p.Pro320Ala)
c.772C>G (p.Pro258Ala)
c.691C>G (p.Pro231Ala)
c.397C>G (p.Pro133Ala)
c.778C>G (p.Pro260Ala)
2g.48688764G>TCA346750064GTF2A1L,LHCGR,STON1-GTF2A1Lc.1033C>A (p.Pro345Thr)
c.948-625C>A (n.948-625C>A)
c.3441+17084G>T (n.3441+17084G>T)
c.948-181C>A (n.948-181C>A)
c.952C>A (p.Pro318Thr)
c.276+17084G>T (n.276+17084G>T)
c.*220+5460C>A (n.*220+5460C>A)
c.76C>A (p.Pro26Thr)
c.103C>A (p.Pro35Thr)
c.958C>A (p.Pro320Thr)
c.772C>A (p.Pro258Thr)
c.691C>A (p.Pro231Thr)
c.397C>A (p.Pro133Thr)
c.778C>A (p.Pro260Thr)
2g.48688765A>CCA426124806GTF2A1L,LHCGR,STON1-GTF2A1Lc.1032T>G (p.Ala344=)
c.948-626T>G (n.948-626T>G)
c.3441+17085A>C (n.3441+17085A>C)
c.948-182T>G (n.948-182T>G)
c.951T>G (p.Ala317=)
c.276+17085A>C (n.276+17085A>C)
c.*220+5459T>G (n.*220+5459T>G)
c.75T>G (p.Ala25=)
c.102T>G (p.Ala34=)
c.957T>G (p.Ala319=)
c.771T>G (p.Ala257=)
c.690T>G (p.Ala230=)
c.396T>G (p.Ala132=)
c.777T>G (p.Ala259=)
2g.48688765A>GCA426124807GTF2A1L,LHCGR,STON1-GTF2A1Lc.1032T>C (p.Ala344=)
c.948-626T>C (n.948-626T>C)
c.3441+17085A>G (n.3441+17085A>G)
c.948-182T>C (n.948-182T>C)
c.951T>C (p.Ala317=)
c.276+17085A>G (n.276+17085A>G)
c.*220+5459T>C (n.*220+5459T>C)
c.75T>C (p.Ala25=)
c.102T>C (p.Ala34=)
c.957T>C (p.Ala319=)
c.771T>C (p.Ala257=)
c.690T>C (p.Ala230=)
c.396T>C (p.Ala132=)
c.777T>C (p.Ala259=)
2g.48688765A>TCA426124808GTF2A1L,LHCGR,STON1-GTF2A1Lc.1032T>A (p.Ala344=)
c.948-626T>A (n.948-626T>A)
c.3441+17085A>T (n.3441+17085A>T)
c.948-182T>A (n.948-182T>A)
c.951T>A (p.Ala317=)
c.276+17085A>T (n.276+17085A>T)
c.*220+5459T>A (n.*220+5459T>A)
c.75T>A (p.Ala25=)
c.102T>A (p.Ala34=)
c.957T>A (p.Ala319=)
c.771T>A (p.Ala257=)
c.690T>A (p.Ala230=)
c.396T>A (p.Ala132=)
c.777T>A (p.Ala259=)
2g.48688766G>ACA1653092GTF2A1L,LHCGR,STON1-GTF2A1Lc.1031C>T (p.Ala344Val)
c.948-627C>T (n.948-627C>T)
c.3441+17086G>A (n.3441+17086G>A)
c.948-183C>T (n.948-183C>T)
c.950C>T (p.Ala317Val)
c.276+17086G>A (n.276+17086G>A)
c.*220+5458C>T (n.*220+5458C>T)
c.74C>T (p.Ala25Val)
c.101C>T (p.Ala34Val)
c.956C>T (p.Ala319Val)
c.770C>T (p.Ala257Val)
c.689C>T (p.Ala230Val)
c.395C>T (p.Ala132Val)
c.776C>T (p.Ala259Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688766G>CCA346750067GTF2A1L,LHCGR,STON1-GTF2A1Lc.1031C>G (p.Ala344Gly)
c.948-627C>G (n.948-627C>G)
c.3441+17086G>C (n.3441+17086G>C)
c.948-183C>G (n.948-183C>G)
c.950C>G (p.Ala317Gly)
c.276+17086G>C (n.276+17086G>C)
c.*220+5458C>G (n.*220+5458C>G)
c.74C>G (p.Ala25Gly)
c.101C>G (p.Ala34Gly)
c.956C>G (p.Ala319Gly)
c.770C>G (p.Ala257Gly)
c.689C>G (p.Ala230Gly)
c.395C>G (p.Ala132Gly)
c.776C>G (p.Ala259Gly)
2g.48688766G=CA1248601260GTF2A1L,LHCGR,STON1-GTF2A1Lc.1031C= (p.Ala344=)
c.948-627C= (n.948-627C=)
c.3441+17086G= (n.3441+17086G=)
c.948-183C= (n.948-183C=)
c.950C= (p.Ala317=)
c.276+17086G= (n.276+17086G=)
c.*220+5458C= (n.*220+5458C=)
c.74C= (p.Ala25=)
c.101C= (p.Ala34=)
c.956C= (p.Ala319=)
c.770C= (p.Ala257=)
c.689C= (p.Ala230=)
c.395C= (p.Ala132=)
c.776C= (p.Ala259=)
2g.48688766G>TCA346750068GTF2A1L,LHCGR,STON1-GTF2A1Lc.1031C>A (p.Ala344Asp)
c.948-627C>A (n.948-627C>A)
c.3441+17086G>T (n.3441+17086G>T)
c.948-183C>A (n.948-183C>A)
c.950C>A (p.Ala317Asp)
c.276+17086G>T (n.276+17086G>T)
c.*220+5458C>A (n.*220+5458C>A)
c.74C>A (p.Ala25Asp)
c.101C>A (p.Ala34Asp)
c.956C>A (p.Ala319Asp)
c.770C>A (p.Ala257Asp)
c.689C>A (p.Ala230Asp)
c.395C>A (p.Ala132Asp)
c.776C>A (p.Ala259Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688767C>ACA346750071GTF2A1L,LHCGR,STON1-GTF2A1Lc.1030G>T (p.Ala344Ser)
c.948-628G>T (n.948-628G>T)
c.3441+17087C>A (n.3441+17087C>A)
c.948-184G>T (n.948-184G>T)
c.949G>T (p.Ala317Ser)
c.276+17087C>A (n.276+17087C>A)
c.*220+5457G>T (n.*220+5457G>T)
c.73G>T (p.Ala25Ser)
c.100G>T (p.Ala34Ser)
c.955G>T (p.Ala319Ser)
c.769G>T (p.Ala257Ser)
c.688G>T (p.Ala230Ser)
c.394G>T (p.Ala132Ser)
c.775G>T (p.Ala259Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.48688767C=CA1248601261GTF2A1L,LHCGR,STON1-GTF2A1Lc.1030G= (p.Ala344=)
c.948-628G= (n.948-628G=)
c.3441+17087C= (n.3441+17087C=)
c.948-184G= (n.948-184G=)
c.949G= (p.Ala317=)
c.276+17087C= (n.276+17087C=)
c.*220+5457G= (n.*220+5457G=)
c.73G= (p.Ala25=)
c.100G= (p.Ala34=)
c.955G= (p.Ala319=)
c.769G= (p.Ala257=)
c.688G= (p.Ala230=)
c.394G= (p.Ala132=)
c.775G= (p.Ala259=)
2g.48688767C>GCA346750072GTF2A1L,LHCGR,STON1-GTF2A1Lc.1030G>C (p.Ala344Pro)
c.948-628G>C (n.948-628G>C)
c.3441+17087C>G (n.3441+17087C>G)
c.948-184G>C (n.948-184G>C)
c.949G>C (p.Ala317Pro)
c.276+17087C>G (n.276+17087C>G)
c.*220+5457G>C (n.*220+5457G>C)
c.73G>C (p.Ala25Pro)
c.100G>C (p.Ala34Pro)
c.955G>C (p.Ala319Pro)
c.769G>C (p.Ala257Pro)
c.688G>C (p.Ala230Pro)
c.394G>C (p.Ala132Pro)
c.775G>C (p.Ala259Pro)
 COSMIC
2g.48688767C>TCA346750075GTF2A1L,LHCGR,STON1-GTF2A1Lc.1030G>A (p.Ala344Thr)
c.948-628G>A (n.948-628G>A)
c.3441+17087C>T (n.3441+17087C>T)
c.948-184G>A (n.948-184G>A)
c.949G>A (p.Ala317Thr)
c.276+17087C>T (n.276+17087C>T)
c.*220+5457G>A (n.*220+5457G>A)
c.73G>A (p.Ala25Thr)
c.100G>A (p.Ala34Thr)
c.955G>A (p.Ala319Thr)
c.769G>A (p.Ala257Thr)
c.688G>A (p.Ala230Thr)
c.394G>A (p.Ala132Thr)
c.775G>A (p.Ala259Thr)
2g.48688768A>CCA346750077GTF2A1L,LHCGR,STON1-GTF2A1Lc.1029T>G (p.Cys343Trp)
c.948-629T>G (n.948-629T>G)
c.3441+17088A>C (n.3441+17088A>C)
c.948-185T>G (n.948-185T>G)
c.948T>G (p.Cys316Trp)
c.276+17088A>C (n.276+17088A>C)
c.*220+5456T>G (n.*220+5456T>G)
c.72T>G (p.Cys24Trp)
c.99T>G (p.Cys33Trp)
c.954T>G (p.Cys318Trp)
c.768T>G (p.Cys256Trp)
c.687T>G (p.Cys229Trp)
c.393T>G (p.Cys131Trp)
c.774T>G (p.Cys258Trp)
2g.48688768A>GCA426124812GTF2A1L,LHCGR,STON1-GTF2A1Lc.1029T>C (p.Cys343=)
c.948-629T>C (n.948-629T>C)
c.3441+17088A>G (n.3441+17088A>G)
c.948-185T>C (n.948-185T>C)
c.948T>C (p.Cys316=)
c.276+17088A>G (n.276+17088A>G)
c.*220+5456T>C (n.*220+5456T>C)
c.72T>C (p.Cys24=)
c.99T>C (p.Cys33=)
c.954T>C (p.Cys318=)
c.768T>C (p.Cys256=)
c.687T>C (p.Cys229=)
c.393T>C (p.Cys131=)
c.774T>C (p.Cys258=)
 gnomAD v4
2g.48688768A>TCA346750078GTF2A1L,LHCGR,STON1-GTF2A1Lc.1029T>A (p.Cys343Ter)
c.948-629T>A (n.948-629T>A)
c.3441+17088A>T (n.3441+17088A>T)
c.948-185T>A (n.948-185T>A)
c.948T>A (p.Cys316Ter)
c.276+17088A>T (n.276+17088A>T)
c.*220+5456T>A (n.*220+5456T>A)
c.72T>A (p.Cys24Ter)
c.99T>A (p.Cys33Ter)
c.954T>A (p.Cys318Ter)
c.768T>A (p.Cys256Ter)
c.687T>A (p.Cys229Ter)
c.393T>A (p.Cys131Ter)
c.774T>A (p.Cys258Ter)
2g.48688769C>ACA346750089GTF2A1L,LHCGR,STON1-GTF2A1Lc.1028G>T (p.Cys343Phe)
c.948-630G>T (n.948-630G>T)
c.3441+17089C>A (n.3441+17089C>A)
c.948-186G>T (n.948-186G>T)
c.947G>T (p.Cys316Phe)
c.276+17089C>A (n.276+17089C>A)
c.*220+5455G>T (n.*220+5455G>T)
c.71G>T (p.Cys24Phe)
c.98G>T (p.Cys33Phe)
c.953G>T (p.Cys318Phe)
c.767G>T (p.Cys256Phe)
c.686G>T (p.Cys229Phe)
c.392G>T (p.Cys131Phe)
c.773G>T (p.Cys258Phe)
2g.48688769C>GCA346750087GTF2A1L,LHCGR,STON1-GTF2A1Lc.1028G>C (p.Cys343Ser)
c.948-630G>C (n.948-630G>C)
c.3441+17089C>G (n.3441+17089C>G)
c.948-186G>C (n.948-186G>C)
c.947G>C (p.Cys316Ser)
c.276+17089C>G (n.276+17089C>G)
c.*220+5455G>C (n.*220+5455G>C)
c.71G>C (p.Cys24Ser)
c.98G>C (p.Cys33Ser)
c.953G>C (p.Cys318Ser)
c.767G>C (p.Cys256Ser)
c.686G>C (p.Cys229Ser)
c.392G>C (p.Cys131Ser)
c.773G>C (p.Cys258Ser)
2g.48688769C>TCA346750083GTF2A1L,LHCGR,STON1-GTF2A1Lc.1028G>A (p.Cys343Tyr)
c.948-630G>A (n.948-630G>A)
c.3441+17089C>T (n.3441+17089C>T)
c.948-186G>A (n.948-186G>A)
c.947G>A (p.Cys316Tyr)
c.276+17089C>T (n.276+17089C>T)
c.*220+5455G>A (n.*220+5455G>A)
c.71G>A (p.Cys24Tyr)
c.98G>A (p.Cys33Tyr)
c.953G>A (p.Cys318Tyr)
c.767G>A (p.Cys256Tyr)
c.686G>A (p.Cys229Tyr)
c.392G>A (p.Cys131Tyr)
c.773G>A (p.Cys258Tyr)
 gnomAD v4
2g.48688770A=CA1248601262GTF2A1L,LHCGR,STON1-GTF2A1Lc.1027T= (p.Cys343=)
c.948-631T= (n.948-631T=)
c.3441+17090A= (n.3441+17090A=)
c.948-187T= (n.948-187T=)
c.946T= (p.Cys316=)
c.276+17090A= (n.276+17090A=)
c.*220+5454T= (n.*220+5454T=)
c.70T= (p.Cys24=)
c.97T= (p.Cys33=)
c.952T= (p.Cys318=)
c.766T= (p.Cys256=)
c.685T= (p.Cys229=)
c.391T= (p.Cys131=)
c.772T= (p.Cys258=)
2g.48688770A>CCA346750091GTF2A1L,LHCGR,STON1-GTF2A1Lc.1027T>G (p.Cys343Gly)
c.948-631T>G (n.948-631T>G)
c.3441+17090A>C (n.3441+17090A>C)
c.948-187T>G (n.948-187T>G)
c.946T>G (p.Cys316Gly)
c.276+17090A>C (n.276+17090A>C)
c.*220+5454T>G (n.*220+5454T>G)
c.70T>G (p.Cys24Gly)
c.97T>G (p.Cys33Gly)
c.952T>G (p.Cys318Gly)
c.766T>G (p.Cys256Gly)
c.685T>G (p.Cys229Gly)
c.391T>G (p.Cys131Gly)
c.772T>G (p.Cys258Gly)
2g.48688770A>GCA346750095GTF2A1L,LHCGR,STON1-GTF2A1Lc.1027T>C (p.Cys343Arg)
c.948-631T>C (n.948-631T>C)
c.3441+17090A>G (n.3441+17090A>G)
c.948-187T>C (n.948-187T>C)
c.946T>C (p.Cys316Arg)
c.276+17090A>G (n.276+17090A>G)
c.*220+5454T>C (n.*220+5454T>C)
c.70T>C (p.Cys24Arg)
c.97T>C (p.Cys33Arg)
c.952T>C (p.Cys318Arg)
c.766T>C (p.Cys256Arg)
c.685T>C (p.Cys229Arg)
c.391T>C (p.Cys131Arg)
c.772T>C (p.Cys258Arg)
2g.48688770A>TCA250649GTF2A1L,LHCGR,STON1-GTF2A1Lc.1027T>A (p.Cys343Ser)
c.948-631T>A (n.948-631T>A)
c.3441+17090A>T (n.3441+17090A>T)
c.948-187T>A (n.948-187T>A)
c.946T>A (p.Cys316Ser)
c.276+17090A>T (n.276+17090A>T)
c.*220+5454T>A (n.*220+5454T>A)
c.70T>A (p.Cys24Ser)
c.97T>A (p.Cys33Ser)
c.952T>A (p.Cys318Ser)
c.766T>A (p.Cys256Ser)
c.685T>A (p.Cys229Ser)
c.391T>A (p.Cys131Ser)
c.772T>A (p.Cys258Ser)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.48688771T>ACA426124839GTF2A1L,LHCGR,STON1-GTF2A1Lc.1026A>T (p.Arg342=)
c.948-632A>T (n.948-632A>T)
c.3441+17091T>A (n.3441+17091T>A)
c.948-188A>T (n.948-188A>T)
c.945A>T (p.Arg315=)
c.276+17091T>A (n.276+17091T>A)
c.*220+5453A>T (n.*220+5453A>T)
c.69A>T (p.Arg23=)
c.96A>T (p.Arg32=)
c.951A>T (p.Arg317=)
c.765A>T (p.Arg255=)
c.684A>T (p.Arg228=)
c.390A>T (p.Arg130=)
c.771A>T (p.Arg257=)
2g.48688771T>CCA426124840GTF2A1L,LHCGR,STON1-GTF2A1Lc.1026A>G (p.Arg342=)
c.948-632A>G (n.948-632A>G)
c.3441+17091T>C (n.3441+17091T>C)
c.948-188A>G (n.948-188A>G)
c.945A>G (p.Arg315=)
c.276+17091T>C (n.276+17091T>C)
c.*220+5453A>G (n.*220+5453A>G)
c.69A>G (p.Arg23=)
c.96A>G (p.Arg32=)
c.951A>G (p.Arg317=)
c.765A>G (p.Arg255=)
c.684A>G (p.Arg228=)
c.390A>G (p.Arg130=)
c.771A>G (p.Arg257=)
2g.48688771T>GCA426124841GTF2A1L,LHCGR,STON1-GTF2A1Lc.1026A>C (p.Arg342=)
c.948-632A>C (n.948-632A>C)
c.3441+17091T>G (n.3441+17091T>G)
c.948-188A>C (n.948-188A>C)
c.945A>C (p.Arg315=)
c.276+17091T>G (n.276+17091T>G)
c.*220+5453A>C (n.*220+5453A>C)
c.69A>C (p.Arg23=)
c.96A>C (p.Arg32=)
c.951A>C (p.Arg317=)
c.765A>C (p.Arg255=)
c.684A>C (p.Arg228=)
c.390A>C (p.Arg130=)
c.771A>C (p.Arg257=)
2g.48688772C>ACA346750099GTF2A1L,LHCGR,STON1-GTF2A1Lc.1025G>T (p.Arg342Leu)
c.948-633G>T (n.948-633G>T)
c.3441+17092C>A (n.3441+17092C>A)
c.948-189G>T (n.948-189G>T)
c.944G>T (p.Arg315Leu)
c.276+17092C>A (n.276+17092C>A)
c.*220+5452G>T (n.*220+5452G>T)
c.68G>T (p.Arg23Leu)
c.95G>T (p.Arg32Leu)
c.950G>T (p.Arg317Leu)
c.764G>T (p.Arg255Leu)
c.683G>T (p.Arg228Leu)
c.389G>T (p.Arg130Leu)
c.770G>T (p.Arg257Leu)
 gnomAD v4
2g.48688772C=CA1248601263GTF2A1L,LHCGR,STON1-GTF2A1Lc.1025G= (p.Arg342=)
c.948-633G= (n.948-633G=)
c.3441+17092C= (n.3441+17092C=)
c.948-189G= (n.948-189G=)
c.944G= (p.Arg315=)
c.276+17092C= (n.276+17092C=)
c.*220+5452G= (n.*220+5452G=)
c.68G= (p.Arg23=)
c.95G= (p.Arg32=)
c.950G= (p.Arg317=)
c.764G= (p.Arg255=)
c.683G= (p.Arg228=)
c.389G= (p.Arg130=)
c.770G= (p.Arg257=)
2g.48688772C>GCA346750102GTF2A1L,LHCGR,STON1-GTF2A1Lc.1025G>C (p.Arg342Pro)
c.948-633G>C (n.948-633G>C)
c.3441+17092C>G (n.3441+17092C>G)
c.948-189G>C (n.948-189G>C)
c.944G>C (p.Arg315Pro)
c.276+17092C>G (n.276+17092C>G)
c.*220+5452G>C (n.*220+5452G>C)
c.68G>C (p.Arg23Pro)
c.95G>C (p.Arg32Pro)
c.950G>C (p.Arg317Pro)
c.764G>C (p.Arg255Pro)
c.683G>C (p.Arg228Pro)
c.389G>C (p.Arg130Pro)
c.770G>C (p.Arg257Pro)
2g.48688772C>TCA1653093GTF2A1L,LHCGR,STON1-GTF2A1Lc.1025G>A (p.Arg342Gln)
c.948-633G>A (n.948-633G>A)
c.3441+17092C>T (n.3441+17092C>T)
c.948-189G>A (n.948-189G>A)
c.944G>A (p.Arg315Gln)
c.276+17092C>T (n.276+17092C>T)
c.*220+5452G>A (n.*220+5452G>A)
c.68G>A (p.Arg23Gln)
c.95G>A (p.Arg32Gln)
c.950G>A (p.Arg317Gln)
c.764G>A (p.Arg255Gln)
c.683G>A (p.Arg228Gln)
c.389G>A (p.Arg130Gln)
c.770G>A (p.Arg257Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688773G>ACA1653094GTF2A1L,LHCGR,STON1-GTF2A1Lc.1024C>T (p.Arg342Ter)
c.948-634C>T (n.948-634C>T)
c.3441+17093G>A (n.3441+17093G>A)
c.948-190C>T (n.948-190C>T)
c.943C>T (p.Arg315Ter)
c.276+17093G>A (n.276+17093G>A)
c.*220+5451C>T (n.*220+5451C>T)
c.67C>T (p.Arg23Ter)
c.94C>T (p.Arg32Ter)
c.949C>T (p.Arg317Ter)
c.763C>T (p.Arg255Ter)
c.682C>T (p.Arg228Ter)
c.388C>T (p.Arg130Ter)
c.769C>T (p.Arg257Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688773G>CCA346750122GTF2A1L,LHCGR,STON1-GTF2A1Lc.1024C>G (p.Arg342Gly)
c.948-634C>G (n.948-634C>G)
c.3441+17093G>C (n.3441+17093G>C)
c.948-190C>G (n.948-190C>G)
c.943C>G (p.Arg315Gly)
c.276+17093G>C (n.276+17093G>C)
c.*220+5451C>G (n.*220+5451C>G)
c.67C>G (p.Arg23Gly)
c.94C>G (p.Arg32Gly)
c.949C>G (p.Arg317Gly)
c.763C>G (p.Arg255Gly)
c.682C>G (p.Arg228Gly)
c.388C>G (p.Arg130Gly)
c.769C>G (p.Arg257Gly)
2g.48688773G=CA1248601264GTF2A1L,LHCGR,STON1-GTF2A1Lc.1024C= (p.Arg342=)
c.948-634C= (n.948-634C=)
c.3441+17093G= (n.3441+17093G=)
c.948-190C= (n.948-190C=)
c.943C= (p.Arg315=)
c.276+17093G= (n.276+17093G=)
c.*220+5451C= (n.*220+5451C=)
c.67C= (p.Arg23=)
c.94C= (p.Arg32=)
c.949C= (p.Arg317=)
c.763C= (p.Arg255=)
c.682C= (p.Arg228=)
c.388C= (p.Arg130=)
c.769C= (p.Arg257=)
2g.48688773G>TCA426124842GTF2A1L,LHCGR,STON1-GTF2A1Lc.1024C>A (p.Arg342=)
c.948-634C>A (n.948-634C>A)
c.3441+17093G>T (n.3441+17093G>T)
c.948-190C>A (n.948-190C>A)
c.943C>A (p.Arg315=)
c.276+17093G>T (n.276+17093G>T)
c.*220+5451C>A (n.*220+5451C>A)
c.67C>A (p.Arg23=)
c.94C>A (p.Arg32=)
c.949C>A (p.Arg317=)
c.763C>A (p.Arg255=)
c.682C>A (p.Arg228=)
c.388C>A (p.Arg130=)
c.769C>A (p.Arg257=)
2g.48688776delCA2658992090GTF2A1L,LHCGR,STON1-GTF2A1Lc.1024del (p.Arg342AspfsTer24)
c.948-634del (n.948-634del)
c.3441+17096del (n.3441+17096del)
c.948-190del (n.948-190del)
c.943del (p.Arg315AspfsTer24)
c.276+17096del (n.276+17096del)
c.*220+5451del (n.*220+5451del)
c.67del (p.Arg23AspfsTer24)
c.94del (p.Arg32AspfsTer24)
c.949del (p.Arg317AspfsTer24)
c.763del (p.Arg255AspfsTer24)
c.682del (p.Arg228AspfsTer24)
c.388del (p.Arg130AspfsTer24)
c.769del (p.Arg257AspfsTer24)
 gnomAD v4
2g.48688774G>ACA426124843GTF2A1L,LHCGR,STON1-GTF2A1Lc.1023C>T (p.Pro341=)
c.948-635C>T (n.948-635C>T)
c.3441+17094G>A (n.3441+17094G>A)
c.948-191C>T (n.948-191C>T)
c.942C>T (p.Pro314=)
c.276+17094G>A (n.276+17094G>A)
c.*220+5450C>T (n.*220+5450C>T)
c.66C>T (p.Pro22=)
c.93C>T (p.Pro31=)
c.948C>T (p.Pro316=)
c.762C>T (p.Pro254=)
c.681C>T (p.Pro227=)
c.387C>T (p.Pro129=)
c.768C>T (p.Pro256=)
 ClinVar COSMIC
2g.48688774G>CCA426124844GTF2A1L,LHCGR,STON1-GTF2A1Lc.1023C>G (p.Pro341=)
c.948-635C>G (n.948-635C>G)
c.3441+17094G>C (n.3441+17094G>C)
c.948-191C>G (n.948-191C>G)
c.942C>G (p.Pro314=)
c.276+17094G>C (n.276+17094G>C)
c.*220+5450C>G (n.*220+5450C>G)
c.66C>G (p.Pro22=)
c.93C>G (p.Pro31=)
c.948C>G (p.Pro316=)
c.762C>G (p.Pro254=)
c.681C>G (p.Pro227=)
c.387C>G (p.Pro129=)
c.768C>G (p.Pro256=)
2g.48688774G>TCA426124845GTF2A1L,LHCGR,STON1-GTF2A1Lc.1023C>A (p.Pro341=)
c.948-635C>A (n.948-635C>A)
c.3441+17094G>T (n.3441+17094G>T)
c.948-191C>A (n.948-191C>A)
c.942C>A (p.Pro314=)
c.276+17094G>T (n.276+17094G>T)
c.*220+5450C>A (n.*220+5450C>A)
c.66C>A (p.Pro22=)
c.93C>A (p.Pro31=)
c.948C>A (p.Pro316=)
c.762C>A (p.Pro254=)
c.681C>A (p.Pro227=)
c.387C>A (p.Pro129=)
c.768C>A (p.Pro256=)
2g.48688775G>ACA346750125GTF2A1L,LHCGR,STON1-GTF2A1Lc.1022C>T (p.Pro341Leu)
c.948-636C>T (n.948-636C>T)
c.3441+17095G>A (n.3441+17095G>A)
c.948-192C>T (n.948-192C>T)
c.941C>T (p.Pro314Leu)
c.276+17095G>A (n.276+17095G>A)
c.*220+5449C>T (n.*220+5449C>T)
c.65C>T (p.Pro22Leu)
c.92C>T (p.Pro31Leu)
c.947C>T (p.Pro316Leu)
c.761C>T (p.Pro254Leu)
c.680C>T (p.Pro227Leu)
c.386C>T (p.Pro129Leu)
c.767C>T (p.Pro256Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.48688775G>CCA346750128GTF2A1L,LHCGR,STON1-GTF2A1Lc.1022C>G (p.Pro341Arg)
c.948-636C>G (n.948-636C>G)
c.3441+17095G>C (n.3441+17095G>C)
c.948-192C>G (n.948-192C>G)
c.941C>G (p.Pro314Arg)
c.276+17095G>C (n.276+17095G>C)
c.*220+5449C>G (n.*220+5449C>G)
c.65C>G (p.Pro22Arg)
c.92C>G (p.Pro31Arg)
c.947C>G (p.Pro316Arg)
c.761C>G (p.Pro254Arg)
c.680C>G (p.Pro227Arg)
c.386C>G (p.Pro129Arg)
c.767C>G (p.Pro256Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.48688775G=CA1248601265GTF2A1L,LHCGR,STON1-GTF2A1Lc.1022C= (p.Pro341=)
c.948-636C= (n.948-636C=)
c.3441+17095G= (n.3441+17095G=)
c.948-192C= (n.948-192C=)
c.941C= (p.Pro314=)
c.276+17095G= (n.276+17095G=)
c.*220+5449C= (n.*220+5449C=)
c.65C= (p.Pro22=)
c.92C= (p.Pro31=)
c.947C= (p.Pro316=)
c.761C= (p.Pro254=)
c.680C= (p.Pro227=)
c.386C= (p.Pro129=)
c.767C= (p.Pro256=)
2g.48688775G>TCA346750131GTF2A1L,LHCGR,STON1-GTF2A1Lc.1022C>A (p.Pro341His)
c.948-636C>A (n.948-636C>A)
c.3441+17095G>T (n.3441+17095G>T)
c.948-192C>A (n.948-192C>A)
c.941C>A (p.Pro314His)
c.276+17095G>T (n.276+17095G>T)
c.*220+5449C>A (n.*220+5449C>A)
c.65C>A (p.Pro22His)
c.92C>A (p.Pro31His)
c.947C>A (p.Pro316His)
c.761C>A (p.Pro254His)
c.680C>A (p.Pro227His)
c.386C>A (p.Pro129His)
c.767C>A (p.Pro256His)
2g.48688776G>ACA346750140GTF2A1L,LHCGR,STON1-GTF2A1Lc.1021C>T (p.Pro341Ser)
c.948-637C>T (n.948-637C>T)
c.3441+17096G>A (n.3441+17096G>A)
c.948-193C>T (n.948-193C>T)
c.940C>T (p.Pro314Ser)
c.276+17096G>A (n.276+17096G>A)
c.*220+5448C>T (n.*220+5448C>T)
c.64C>T (p.Pro22Ser)
c.91C>T (p.Pro31Ser)
c.946C>T (p.Pro316Ser)
c.760C>T (p.Pro254Ser)
c.679C>T (p.Pro227Ser)
c.385C>T (p.Pro129Ser)
c.766C>T (p.Pro256Ser)
2g.48688776G>CCA346750138GTF2A1L,LHCGR,STON1-GTF2A1Lc.1021C>G (p.Pro341Ala)
c.948-637C>G (n.948-637C>G)
c.3441+17096G>C (n.3441+17096G>C)
c.948-193C>G (n.948-193C>G)
c.940C>G (p.Pro314Ala)
c.276+17096G>C (n.276+17096G>C)
c.*220+5448C>G (n.*220+5448C>G)
c.64C>G (p.Pro22Ala)
c.91C>G (p.Pro31Ala)
c.946C>G (p.Pro316Ala)
c.760C>G (p.Pro254Ala)
c.679C>G (p.Pro227Ala)
c.385C>G (p.Pro129Ala)
c.766C>G (p.Pro256Ala)
2g.48688776G>TCA346750135GTF2A1L,LHCGR,STON1-GTF2A1Lc.1021C>A (p.Pro341Thr)
c.948-637C>A (n.948-637C>A)
c.3441+17096G>T (n.3441+17096G>T)
c.948-193C>A (n.948-193C>A)
c.940C>A (p.Pro314Thr)
c.276+17096G>T (n.276+17096G>T)
c.*220+5448C>A (n.*220+5448C>A)
c.64C>A (p.Pro22Thr)
c.91C>A (p.Pro31Thr)
c.946C>A (p.Pro316Thr)
c.760C>A (p.Pro254Thr)
c.679C>A (p.Pro227Thr)
c.385C>A (p.Pro129Thr)
c.766C>A (p.Pro256Thr)
 gnomAD v4
2g.48688777T>ACA426124846GTF2A1L,LHCGR,STON1-GTF2A1Lc.1020A>T (p.Thr340=)
c.948-638A>T (n.948-638A>T)
c.3441+17097T>A (n.3441+17097T>A)
c.948-194A>T (n.948-194A>T)
c.939A>T (p.Thr313=)
c.276+17097T>A (n.276+17097T>A)
c.*220+5447A>T (n.*220+5447A>T)
c.63A>T (p.Thr21=)
c.90A>T (p.Thr30=)
c.945A>T (p.Thr315=)
c.759A>T (p.Thr253=)
c.678A>T (p.Thr226=)
c.384A>T (p.Thr128=)
c.765A>T (p.Thr255=)
2g.48688777T>CCA426124847GTF2A1L,LHCGR,STON1-GTF2A1Lc.1020A>G (p.Thr340=)
c.948-638A>G (n.948-638A>G)
c.3441+17097T>C (n.3441+17097T>C)
c.948-194A>G (n.948-194A>G)
c.939A>G (p.Thr313=)
c.276+17097T>C (n.276+17097T>C)
c.*220+5447A>G (n.*220+5447A>G)
c.63A>G (p.Thr21=)
c.90A>G (p.Thr30=)
c.945A>G (p.Thr315=)
c.759A>G (p.Thr253=)
c.678A>G (p.Thr226=)
c.384A>G (p.Thr128=)
c.765A>G (p.Thr255=)
2g.48688777T>GCA426124848GTF2A1L,LHCGR,STON1-GTF2A1Lc.1020A>C (p.Thr340=)
c.948-638A>C (n.948-638A>C)
c.3441+17097T>G (n.3441+17097T>G)
c.948-194A>C (n.948-194A>C)
c.939A>C (p.Thr313=)
c.276+17097T>G (n.276+17097T>G)
c.*220+5447A>C (n.*220+5447A>C)
c.63A>C (p.Thr21=)
c.90A>C (p.Thr30=)
c.945A>C (p.Thr315=)
c.759A>C (p.Thr253=)
c.678A>C (p.Thr226=)
c.384A>C (p.Thr128=)
c.765A>C (p.Thr255=)
2g.48688778G>ACA346750144GTF2A1L,LHCGR,STON1-GTF2A1Lc.1019C>T (p.Thr340Ile)
c.948-639C>T (n.948-639C>T)
c.3441+17098G>A (n.3441+17098G>A)
c.948-195C>T (n.948-195C>T)
c.938C>T (p.Thr313Ile)
c.276+17098G>A (n.276+17098G>A)
c.*220+5446C>T (n.*220+5446C>T)
c.62C>T (p.Thr21Ile)
c.89C>T (p.Thr30Ile)
c.944C>T (p.Thr315Ile)
c.758C>T (p.Thr253Ile)
c.677C>T (p.Thr226Ile)
c.383C>T (p.Thr128Ile)
c.764C>T (p.Thr255Ile)
 dbSNP gnomAD v4
2g.48688778G>CCA346750147GTF2A1L,LHCGR,STON1-GTF2A1Lc.1019C>G (p.Thr340Arg)
c.948-639C>G (n.948-639C>G)
c.3441+17098G>C (n.3441+17098G>C)
c.948-195C>G (n.948-195C>G)
c.938C>G (p.Thr313Arg)
c.276+17098G>C (n.276+17098G>C)
c.*220+5446C>G (n.*220+5446C>G)
c.62C>G (p.Thr21Arg)
c.89C>G (p.Thr30Arg)
c.944C>G (p.Thr315Arg)
c.758C>G (p.Thr253Arg)
c.677C>G (p.Thr226Arg)
c.383C>G (p.Thr128Arg)
c.764C>G (p.Thr255Arg)
2g.48688778G=CA1248601266GTF2A1L,LHCGR,STON1-GTF2A1Lc.1019C= (p.Thr340=)
c.948-639C= (n.948-639C=)
c.3441+17098G= (n.3441+17098G=)
c.948-195C= (n.948-195C=)
c.938C= (p.Thr313=)
c.276+17098G= (n.276+17098G=)
c.*220+5446C= (n.*220+5446C=)
c.62C= (p.Thr21=)
c.89C= (p.Thr30=)
c.944C= (p.Thr315=)
c.758C= (p.Thr253=)
c.677C= (p.Thr226=)
c.383C= (p.Thr128=)
c.764C= (p.Thr255=)
2g.48688778G>TCA346750150GTF2A1L,LHCGR,STON1-GTF2A1Lc.1019C>A (p.Thr340Lys)
c.948-639C>A (n.948-639C>A)
c.3441+17098G>T (n.3441+17098G>T)
c.948-195C>A (n.948-195C>A)
c.938C>A (p.Thr313Lys)
c.276+17098G>T (n.276+17098G>T)
c.*220+5446C>A (n.*220+5446C>A)
c.62C>A (p.Thr21Lys)
c.89C>A (p.Thr30Lys)
c.944C>A (p.Thr315Lys)
c.758C>A (p.Thr253Lys)
c.677C>A (p.Thr226Lys)
c.383C>A (p.Thr128Lys)
c.764C>A (p.Thr255Lys)
2g.48688779T>ACA346750153GTF2A1L,LHCGR,STON1-GTF2A1Lc.1018A>T (p.Thr340Ser)
c.948-640A>T (n.948-640A>T)
c.3441+17099T>A (n.3441+17099T>A)
c.948-196A>T (n.948-196A>T)
c.937A>T (p.Thr313Ser)
c.276+17099T>A (n.276+17099T>A)
c.*220+5445A>T (n.*220+5445A>T)
c.61A>T (p.Thr21Ser)
c.88A>T (p.Thr30Ser)
c.943A>T (p.Thr315Ser)
c.757A>T (p.Thr253Ser)
c.676A>T (p.Thr226Ser)
c.382A>T (p.Thr128Ser)
c.763A>T (p.Thr255Ser)
2g.48688779T>CCA46753401GTF2A1L,LHCGR,STON1-GTF2A1Lc.1018A>G (p.Thr340Ala)
c.948-640A>G (n.948-640A>G)
c.3441+17099T>C (n.3441+17099T>C)
c.948-196A>G (n.948-196A>G)
c.937A>G (p.Thr313Ala)
c.276+17099T>C (n.276+17099T>C)
c.*220+5445A>G (n.*220+5445A>G)
c.61A>G (p.Thr21Ala)
c.88A>G (p.Thr30Ala)
c.943A>G (p.Thr315Ala)
c.757A>G (p.Thr253Ala)
c.676A>G (p.Thr226Ala)
c.382A>G (p.Thr128Ala)
c.763A>G (p.Thr255Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688779T>GCA346750156GTF2A1L,LHCGR,STON1-GTF2A1Lc.1018A>C (p.Thr340Pro)
c.948-640A>C (n.948-640A>C)
c.3441+17099T>G (n.3441+17099T>G)
c.948-196A>C (n.948-196A>C)
c.937A>C (p.Thr313Pro)
c.276+17099T>G (n.276+17099T>G)
c.*220+5445A>C (n.*220+5445A>C)
c.61A>C (p.Thr21Pro)
c.88A>C (p.Thr30Pro)
c.943A>C (p.Thr315Pro)
c.757A>C (p.Thr253Pro)
c.676A>C (p.Thr226Pro)
c.382A>C (p.Thr128Pro)
c.763A>C (p.Thr255Pro)
2g.48688779T=CA1248601267GTF2A1L,LHCGR,STON1-GTF2A1Lc.1018A= (p.Thr340=)
c.948-640A= (n.948-640A=)
c.3441+17099T= (n.3441+17099T=)
c.948-196A= (n.948-196A=)
c.937A= (p.Thr313=)
c.276+17099T= (n.276+17099T=)
c.*220+5445A= (n.*220+5445A=)
c.61A= (p.Thr21=)
c.88A= (p.Thr30=)
c.943A= (p.Thr315=)
c.757A= (p.Thr253=)
c.676A= (p.Thr226=)
c.382A= (p.Thr128=)
c.763A= (p.Thr255=)
2g.48688780C>ACA346750160GTF2A1L,LHCGR,STON1-GTF2A1Lc.1017G>T (p.Lys339Asn)
c.948-641G>T (n.948-641G>T)
c.3441+17100C>A (n.3441+17100C>A)
c.948-197G>T (n.948-197G>T)
c.936G>T (p.Lys312Asn)
c.276+17100C>A (n.276+17100C>A)
c.*220+5444G>T (n.*220+5444G>T)
c.60G>T (p.Lys20Asn)
c.87G>T (p.Lys29Asn)
c.942G>T (p.Lys314Asn)
c.756G>T (p.Lys252Asn)
c.675G>T (p.Lys225Asn)
c.381G>T (p.Lys127Asn)
c.762G>T (p.Lys254Asn)
2g.48688780C>GCA346750158GTF2A1L,LHCGR,STON1-GTF2A1Lc.1017G>C (p.Lys339Asn)
c.948-641G>C (n.948-641G>C)
c.3441+17100C>G (n.3441+17100C>G)
c.948-197G>C (n.948-197G>C)
c.936G>C (p.Lys312Asn)
c.276+17100C>G (n.276+17100C>G)
c.*220+5444G>C (n.*220+5444G>C)
c.60G>C (p.Lys20Asn)
c.87G>C (p.Lys29Asn)
c.942G>C (p.Lys314Asn)
c.756G>C (p.Lys252Asn)
c.675G>C (p.Lys225Asn)
c.381G>C (p.Lys127Asn)
c.762G>C (p.Lys254Asn)
 gnomAD v4 COSMIC
2g.48688780C>TCA426124849GTF2A1L,LHCGR,STON1-GTF2A1Lc.1017G>A (p.Lys339=)
c.948-641G>A (n.948-641G>A)
c.3441+17100C>T (n.3441+17100C>T)
c.948-197G>A (n.948-197G>A)
c.936G>A (p.Lys312=)
c.276+17100C>T (n.276+17100C>T)
c.*220+5444G>A (n.*220+5444G>A)
c.60G>A (p.Lys20=)
c.87G>A (p.Lys29=)
c.942G>A (p.Lys314=)
c.756G>A (p.Lys252=)
c.675G>A (p.Lys225=)
c.381G>A (p.Lys127=)
c.762G>A (p.Lys254=)
2g.48688781T>ACA346750163GTF2A1L,LHCGR,STON1-GTF2A1Lc.1016A>T (p.Lys339Met)
c.948-642A>T (n.948-642A>T)
c.3441+17101T>A (n.3441+17101T>A)
c.948-198A>T (n.948-198A>T)
c.935A>T (p.Lys312Met)
c.276+17101T>A (n.276+17101T>A)
c.*220+5443A>T (n.*220+5443A>T)
c.59A>T (p.Lys20Met)
c.86A>T (p.Lys29Met)
c.941A>T (p.Lys314Met)
c.755A>T (p.Lys252Met)
c.674A>T (p.Lys225Met)
c.380A>T (p.Lys127Met)
c.761A>T (p.Lys254Met)
 COSMIC
2g.48688781T>CCA1653095GTF2A1L,LHCGR,STON1-GTF2A1Lc.1016A>G (p.Lys339Arg)
c.948-642A>G (n.948-642A>G)
c.3441+17101T>C (n.3441+17101T>C)
c.948-198A>G (n.948-198A>G)
c.935A>G (p.Lys312Arg)
c.276+17101T>C (n.276+17101T>C)
c.*220+5443A>G (n.*220+5443A>G)
c.59A>G (p.Lys20Arg)
c.86A>G (p.Lys29Arg)
c.941A>G (p.Lys314Arg)
c.755A>G (p.Lys252Arg)
c.674A>G (p.Lys225Arg)
c.380A>G (p.Lys127Arg)
c.761A>G (p.Lys254Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688781T>GCA346750166GTF2A1L,LHCGR,STON1-GTF2A1Lc.1016A>C (p.Lys339Thr)
c.948-642A>C (n.948-642A>C)
c.3441+17101T>G (n.3441+17101T>G)
c.948-198A>C (n.948-198A>C)
c.935A>C (p.Lys312Thr)
c.276+17101T>G (n.276+17101T>G)
c.*220+5443A>C (n.*220+5443A>C)
c.59A>C (p.Lys20Thr)
c.86A>C (p.Lys29Thr)
c.941A>C (p.Lys314Thr)
c.755A>C (p.Lys252Thr)
c.674A>C (p.Lys225Thr)
c.380A>C (p.Lys127Thr)
c.761A>C (p.Lys254Thr)
2g.48688781T=CA1248601268GTF2A1L,LHCGR,STON1-GTF2A1Lc.1016A= (p.Lys339=)
c.948-642A= (n.948-642A=)
c.3441+17101T= (n.3441+17101T=)
c.948-198A= (n.948-198A=)
c.935A= (p.Lys312=)
c.276+17101T= (n.276+17101T=)
c.*220+5443A= (n.*220+5443A=)
c.59A= (p.Lys20=)
c.86A= (p.Lys29=)
c.941A= (p.Lys314=)
c.755A= (p.Lys252=)
c.674A= (p.Lys225=)
c.380A= (p.Lys127=)
c.761A= (p.Lys254=)
2g.48688782T>ACA346750168GTF2A1L,LHCGR,STON1-GTF2A1Lc.1015A>T (p.Lys339Ter)
c.948-643A>T (n.948-643A>T)
c.3441+17102T>A (n.3441+17102T>A)
c.948-199A>T (n.948-199A>T)
c.934A>T (p.Lys312Ter)
c.276+17102T>A (n.276+17102T>A)
c.*220+5442A>T (n.*220+5442A>T)
c.58A>T (p.Lys20Ter)
c.85A>T (p.Lys29Ter)
c.940A>T (p.Lys314Ter)
c.754A>T (p.Lys252Ter)
c.673A>T (p.Lys225Ter)
c.379A>T (p.Lys127Ter)
c.760A>T (p.Lys254Ter)
2g.48688782T>CCA346750170GTF2A1L,LHCGR,STON1-GTF2A1Lc.1015A>G (p.Lys339Glu)
c.948-643A>G (n.948-643A>G)
c.3441+17102T>C (n.3441+17102T>C)
c.948-199A>G (n.948-199A>G)
c.934A>G (p.Lys312Glu)
c.276+17102T>C (n.276+17102T>C)
c.*220+5442A>G (n.*220+5442A>G)
c.58A>G (p.Lys20Glu)
c.85A>G (p.Lys29Glu)
c.940A>G (p.Lys314Glu)
c.754A>G (p.Lys252Glu)
c.673A>G (p.Lys225Glu)
c.379A>G (p.Lys127Glu)
c.760A>G (p.Lys254Glu)
2g.48688782T>GCA346750173GTF2A1L,LHCGR,STON1-GTF2A1Lc.1015A>C (p.Lys339Gln)
c.948-643A>C (n.948-643A>C)
c.3441+17102T>G (n.3441+17102T>G)
c.948-199A>C (n.948-199A>C)
c.934A>C (p.Lys312Gln)
c.276+17102T>G (n.276+17102T>G)
c.*220+5442A>C (n.*220+5442A>C)
c.58A>C (p.Lys20Gln)
c.85A>C (p.Lys29Gln)
c.940A>C (p.Lys314Gln)
c.754A>C (p.Lys252Gln)
c.673A>C (p.Lys225Gln)
c.379A>C (p.Lys127Gln)
c.760A>C (p.Lys254Gln)
2g.48688783G>ACA426124852GTF2A1L,LHCGR,STON1-GTF2A1Lc.1014C>T (p.Pro338=)
c.948-644C>T (n.948-644C>T)
c.3441+17103G>A (n.3441+17103G>A)
c.948-200C>T (n.948-200C>T)
c.933C>T (p.Pro311=)
c.276+17103G>A (n.276+17103G>A)
c.*220+5441C>T (n.*220+5441C>T)
c.57C>T (p.Pro19=)
c.84C>T (p.Pro28=)
c.939C>T (p.Pro313=)
c.753C>T (p.Pro251=)
c.672C>T (p.Pro224=)
c.378C>T (p.Pro126=)
c.759C>T (p.Pro253=)
2g.48688783G>CCA426124850GTF2A1L,LHCGR,STON1-GTF2A1Lc.1014C>G (p.Pro338=)
c.948-644C>G (n.948-644C>G)
c.3441+17103G>C (n.3441+17103G>C)
c.948-200C>G (n.948-200C>G)
c.933C>G (p.Pro311=)
c.276+17103G>C (n.276+17103G>C)
c.*220+5441C>G (n.*220+5441C>G)
c.57C>G (p.Pro19=)
c.84C>G (p.Pro28=)
c.939C>G (p.Pro313=)
c.753C>G (p.Pro251=)
c.672C>G (p.Pro224=)
c.378C>G (p.Pro126=)
c.759C>G (p.Pro253=)
2g.48688783G>TCA426124851GTF2A1L,LHCGR,STON1-GTF2A1Lc.1014C>A (p.Pro338=)
c.948-644C>A (n.948-644C>A)
c.3441+17103G>T (n.3441+17103G>T)
c.948-200C>A (n.948-200C>A)
c.933C>A (p.Pro311=)
c.276+17103G>T (n.276+17103G>T)
c.*220+5441C>A (n.*220+5441C>A)
c.57C>A (p.Pro19=)
c.84C>A (p.Pro28=)
c.939C>A (p.Pro313=)
c.753C>A (p.Pro251=)
c.672C>A (p.Pro224=)
c.378C>A (p.Pro126=)
c.759C>A (p.Pro253=)
2g.48688785delCA2658992091GTF2A1L,LHCGR,STON1-GTF2A1Lc.1014del (p.Lys339ArgfsTer27)
c.948-644del (n.948-644del)
c.3441+17105del (n.3441+17105del)
c.948-200del (n.948-200del)
c.933del (p.Lys312ArgfsTer27)
c.276+17105del (n.276+17105del)
c.*220+5441del (n.*220+5441del)
c.57del (p.Lys20ArgfsTer27)
c.84del (p.Lys29ArgfsTer27)
c.939del (p.Lys314ArgfsTer27)
c.753del (p.Lys252ArgfsTer27)
c.672del (p.Lys225ArgfsTer27)
c.378del (p.Lys127ArgfsTer27)
c.759del (p.Lys254ArgfsTer27)
 gnomAD v4
2g.48688784G>ACA346750177GTF2A1L,LHCGR,STON1-GTF2A1Lc.1013C>T (p.Pro338Leu)
c.948-645C>T (n.948-645C>T)
c.3441+17104G>A (n.3441+17104G>A)
c.948-201C>T (n.948-201C>T)
c.932C>T (p.Pro311Leu)
c.276+17104G>A (n.276+17104G>A)
c.*220+5440C>T (n.*220+5440C>T)
c.56C>T (p.Pro19Leu)
c.83C>T (p.Pro28Leu)
c.938C>T (p.Pro313Leu)
c.752C>T (p.Pro251Leu)
c.671C>T (p.Pro224Leu)
c.377C>T (p.Pro126Leu)
c.758C>T (p.Pro253Leu)
2g.48688784G>CCA346750180GTF2A1L,LHCGR,STON1-GTF2A1Lc.1013C>G (p.Pro338Arg)
c.948-645C>G (n.948-645C>G)
c.3441+17104G>C (n.3441+17104G>C)
c.948-201C>G (n.948-201C>G)
c.932C>G (p.Pro311Arg)
c.276+17104G>C (n.276+17104G>C)
c.*220+5440C>G (n.*220+5440C>G)
c.56C>G (p.Pro19Arg)
c.83C>G (p.Pro28Arg)
c.938C>G (p.Pro313Arg)
c.752C>G (p.Pro251Arg)
c.671C>G (p.Pro224Arg)
c.377C>G (p.Pro126Arg)
c.758C>G (p.Pro253Arg)
2g.48688784G>TCA346750179GTF2A1L,LHCGR,STON1-GTF2A1Lc.1013C>A (p.Pro338His)
c.948-645C>A (n.948-645C>A)
c.3441+17104G>T (n.3441+17104G>T)
c.948-201C>A (n.948-201C>A)
c.932C>A (p.Pro311His)
c.276+17104G>T (n.276+17104G>T)
c.*220+5440C>A (n.*220+5440C>A)
c.56C>A (p.Pro19His)
c.83C>A (p.Pro28His)
c.938C>A (p.Pro313His)
c.752C>A (p.Pro251His)
c.671C>A (p.Pro224His)
c.377C>A (p.Pro126His)
c.758C>A (p.Pro253His)
2g.48688785G>ACA346750183GTF2A1L,LHCGR,STON1-GTF2A1Lc.1012C>T (p.Pro338Ser)
c.948-646C>T (n.948-646C>T)
c.3441+17105G>A (n.3441+17105G>A)
c.948-202C>T (n.948-202C>T)
c.931C>T (p.Pro311Ser)
c.276+17105G>A (n.276+17105G>A)
c.*220+5439C>T (n.*220+5439C>T)
c.55C>T (p.Pro19Ser)
c.82C>T (p.Pro28Ser)
c.937C>T (p.Pro313Ser)
c.751C>T (p.Pro251Ser)
c.670C>T (p.Pro224Ser)
c.376C>T (p.Pro126Ser)
c.757C>T (p.Pro253Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.48688785G>CCA346750186GTF2A1L,LHCGR,STON1-GTF2A1Lc.1012C>G (p.Pro338Ala)
c.948-646C>G (n.948-646C>G)
c.3441+17105G>C (n.3441+17105G>C)
c.948-202C>G (n.948-202C>G)
c.931C>G (p.Pro311Ala)
c.276+17105G>C (n.276+17105G>C)
c.*220+5439C>G (n.*220+5439C>G)
c.55C>G (p.Pro19Ala)
c.82C>G (p.Pro28Ala)
c.937C>G (p.Pro313Ala)
c.751C>G (p.Pro251Ala)
c.670C>G (p.Pro224Ala)
c.376C>G (p.Pro126Ala)
c.757C>G (p.Pro253Ala)
2g.48688785G=CA1248601269GTF2A1L,LHCGR,STON1-GTF2A1Lc.1012C= (p.Pro338=)
c.948-646C= (n.948-646C=)
c.3441+17105G= (n.3441+17105G=)
c.948-202C= (n.948-202C=)
c.931C= (p.Pro311=)
c.276+17105G= (n.276+17105G=)
c.*220+5439C= (n.*220+5439C=)
c.55C= (p.Pro19=)
c.82C= (p.Pro28=)
c.937C= (p.Pro313=)
c.751C= (p.Pro251=)
c.670C= (p.Pro224=)
c.376C= (p.Pro126=)
c.757C= (p.Pro253=)
2g.48688785G>TCA346750188GTF2A1L,LHCGR,STON1-GTF2A1Lc.1012C>A (p.Pro338Thr)
c.948-646C>A (n.948-646C>A)
c.3441+17105G>T (n.3441+17105G>T)
c.948-202C>A (n.948-202C>A)
c.931C>A (p.Pro311Thr)
c.276+17105G>T (n.276+17105G>T)
c.*220+5439C>A (n.*220+5439C>A)
c.55C>A (p.Pro19Thr)
c.82C>A (p.Pro28Thr)
c.937C>A (p.Pro313Thr)
c.751C>A (p.Pro251Thr)
c.670C>A (p.Pro224Thr)
c.376C>A (p.Pro126Thr)
c.757C>A (p.Pro253Thr)
 gnomAD v4
2g.48688786T>ACA346750191GTF2A1L,LHCGR,STON1-GTF2A1Lc.1011A>T (p.Leu337Phe)
c.948-647A>T (n.948-647A>T)
c.3441+17106T>A (n.3441+17106T>A)
c.948-203A>T (n.948-203A>T)
c.930A>T (p.Leu310Phe)
c.276+17106T>A (n.276+17106T>A)
c.*220+5438A>T (n.*220+5438A>T)
c.54A>T (p.Leu18Phe)
c.81A>T (p.Leu27Phe)
c.936A>T (p.Leu312Phe)
c.750A>T (p.Leu250Phe)
c.669A>T (p.Leu223Phe)
c.375A>T (p.Leu125Phe)
c.756A>T (p.Leu252Phe)
2g.48688786T>CCA426124853GTF2A1L,LHCGR,STON1-GTF2A1Lc.1011A>G (p.Leu337=)
c.948-647A>G (n.948-647A>G)
c.3441+17106T>C (n.3441+17106T>C)
c.948-203A>G (n.948-203A>G)
c.930A>G (p.Leu310=)
c.276+17106T>C (n.276+17106T>C)
c.*220+5438A>G (n.*220+5438A>G)
c.54A>G (p.Leu18=)
c.81A>G (p.Leu27=)
c.936A>G (p.Leu312=)
c.750A>G (p.Leu250=)
c.669A>G (p.Leu223=)
c.375A>G (p.Leu125=)
c.756A>G (p.Leu252=)
2g.48688786T>GCA346750192GTF2A1L,LHCGR,STON1-GTF2A1Lc.1011A>C (p.Leu337Phe)
c.948-647A>C (n.948-647A>C)
c.3441+17106T>G (n.3441+17106T>G)
c.948-203A>C (n.948-203A>C)
c.930A>C (p.Leu310Phe)
c.276+17106T>G (n.276+17106T>G)
c.*220+5438A>C (n.*220+5438A>C)
c.54A>C (p.Leu18Phe)
c.81A>C (p.Leu27Phe)
c.936A>C (p.Leu312Phe)
c.750A>C (p.Leu250Phe)
c.669A>C (p.Leu223Phe)
c.375A>C (p.Leu125Phe)
c.756A>C (p.Leu252Phe)
2g.48688787A=CA1248601270GTF2A1L,LHCGR,STON1-GTF2A1Lc.1010T= (p.Leu337=)
c.948-648T= (n.948-648T=)
c.3441+17107A= (n.3441+17107A=)
c.948-204T= (n.948-204T=)
c.929T= (p.Leu310=)
c.276+17107A= (n.276+17107A=)
c.*220+5437T= (n.*220+5437T=)
c.53T= (p.Leu18=)
c.80T= (p.Leu27=)
c.935T= (p.Leu312=)
c.749T= (p.Leu250=)
c.668T= (p.Leu223=)
c.374T= (p.Leu125=)
c.755T= (p.Leu252=)
2g.48688787A>CCA346750195GTF2A1L,LHCGR,STON1-GTF2A1Lc.1010T>G (p.Leu337Ter)
c.948-648T>G (n.948-648T>G)
c.3441+17107A>C (n.3441+17107A>C)
c.948-204T>G (n.948-204T>G)
c.929T>G (p.Leu310Ter)
c.276+17107A>C (n.276+17107A>C)
c.*220+5437T>G (n.*220+5437T>G)
c.53T>G (p.Leu18Ter)
c.80T>G (p.Leu27Ter)
c.935T>G (p.Leu312Ter)
c.749T>G (p.Leu250Ter)
c.668T>G (p.Leu223Ter)
c.374T>G (p.Leu125Ter)
c.755T>G (p.Leu252Ter)
2g.48688787A>GCA1653096GTF2A1L,LHCGR,STON1-GTF2A1Lc.1010T>C (p.Leu337Ser)
c.948-648T>C (n.948-648T>C)
c.3441+17107A>G (n.3441+17107A>G)
c.948-204T>C (n.948-204T>C)
c.929T>C (p.Leu310Ser)
c.276+17107A>G (n.276+17107A>G)
c.*220+5437T>C (n.*220+5437T>C)
c.53T>C (p.Leu18Ser)
c.80T>C (p.Leu27Ser)
c.935T>C (p.Leu312Ser)
c.749T>C (p.Leu250Ser)
c.668T>C (p.Leu223Ser)
c.374T>C (p.Leu125Ser)
c.755T>C (p.Leu252Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688787A>TCA346750199GTF2A1L,LHCGR,STON1-GTF2A1Lc.1010T>A (p.Leu337Ter)
c.948-648T>A (n.948-648T>A)
c.3441+17107A>T (n.3441+17107A>T)
c.948-204T>A (n.948-204T>A)
c.929T>A (p.Leu310Ter)
c.276+17107A>T (n.276+17107A>T)
c.*220+5437T>A (n.*220+5437T>A)
c.53T>A (p.Leu18Ter)
c.80T>A (p.Leu27Ter)
c.935T>A (p.Leu312Ter)
c.749T>A (p.Leu250Ter)
c.668T>A (p.Leu223Ter)
c.374T>A (p.Leu125Ter)
c.755T>A (p.Leu252Ter)
2g.48688788A>CCA346750201GTF2A1L,LHCGR,STON1-GTF2A1Lc.1009T>G (p.Leu337Val)
c.948-649T>G (n.948-649T>G)
c.3441+17108A>C (n.3441+17108A>C)
c.948-205T>G (n.948-205T>G)
c.928T>G (p.Leu310Val)
c.276+17108A>C (n.276+17108A>C)
c.*220+5436T>G (n.*220+5436T>G)
c.52T>G (p.Leu18Val)
c.79T>G (p.Leu27Val)
c.934T>G (p.Leu312Val)
c.748T>G (p.Leu250Val)
c.667T>G (p.Leu223Val)
c.373T>G (p.Leu125Val)
c.754T>G (p.Leu252Val)
2g.48688788A>GCA426124854GTF2A1L,LHCGR,STON1-GTF2A1Lc.1009T>C (p.Leu337=)
c.948-649T>C (n.948-649T>C)
c.3441+17108A>G (n.3441+17108A>G)
c.948-205T>C (n.948-205T>C)
c.928T>C (p.Leu310=)
c.276+17108A>G (n.276+17108A>G)
c.*220+5436T>C (n.*220+5436T>C)
c.52T>C (p.Leu18=)
c.79T>C (p.Leu27=)
c.934T>C (p.Leu312=)
c.748T>C (p.Leu250=)
c.667T>C (p.Leu223=)
c.373T>C (p.Leu125=)
c.754T>C (p.Leu252=)
 COSMIC
2g.48688788A>TCA346750204GTF2A1L,LHCGR,STON1-GTF2A1Lc.1009T>A (p.Leu337Ile)
c.948-649T>A (n.948-649T>A)
c.3441+17108A>T (n.3441+17108A>T)
c.948-205T>A (n.948-205T>A)
c.928T>A (p.Leu310Ile)
c.276+17108A>T (n.276+17108A>T)
c.*220+5436T>A (n.*220+5436T>A)
c.52T>A (p.Leu18Ile)
c.79T>A (p.Leu27Ile)
c.934T>A (p.Leu312Ile)
c.748T>A (p.Leu250Ile)
c.667T>A (p.Leu223Ile)
c.373T>A (p.Leu125Ile)
c.754T>A (p.Leu252Ile)
2g.48688789G>ACA46753416GTF2A1L,LHCGR,STON1-GTF2A1Lc.1008C>T (p.Cys336=)
c.948-650C>T (n.948-650C>T)
c.3441+17109G>A (n.3441+17109G>A)
c.948-206C>T (n.948-206C>T)
c.927C>T (p.Cys309=)
c.276+17109G>A (n.276+17109G>A)
c.*220+5435C>T (n.*220+5435C>T)
c.51C>T (p.Cys17=)
c.78C>T (p.Cys26=)
c.933C>T (p.Cys311=)
c.747C>T (p.Cys249=)
c.666C>T (p.Cys222=)
c.372C>T (p.Cys124=)
c.753C>T (p.Cys251=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688789G>CCA346750211GTF2A1L,LHCGR,STON1-GTF2A1Lc.1008C>G (p.Cys336Trp)
c.948-650C>G (n.948-650C>G)
c.3441+17109G>C (n.3441+17109G>C)
c.948-206C>G (n.948-206C>G)
c.927C>G (p.Cys309Trp)
c.276+17109G>C (n.276+17109G>C)
c.*220+5435C>G (n.*220+5435C>G)
c.51C>G (p.Cys17Trp)
c.78C>G (p.Cys26Trp)
c.933C>G (p.Cys311Trp)
c.747C>G (p.Cys249Trp)
c.666C>G (p.Cys222Trp)
c.372C>G (p.Cys124Trp)
c.753C>G (p.Cys251Trp)
2g.48688789G=CA1248601271GTF2A1L,LHCGR,STON1-GTF2A1Lc.1008C= (p.Cys336=)
c.948-650C= (n.948-650C=)
c.3441+17109G= (n.3441+17109G=)
c.948-206C= (n.948-206C=)
c.927C= (p.Cys309=)
c.276+17109G= (n.276+17109G=)
c.*220+5435C= (n.*220+5435C=)
c.51C= (p.Cys17=)
c.78C= (p.Cys26=)
c.933C= (p.Cys311=)
c.747C= (p.Cys249=)
c.666C= (p.Cys222=)
c.372C= (p.Cys124=)
c.753C= (p.Cys251=)
2g.48688789G>TCA346750208GTF2A1L,LHCGR,STON1-GTF2A1Lc.1008C>A (p.Cys336Ter)
c.948-650C>A (n.948-650C>A)
c.3441+17109G>T (n.3441+17109G>T)
c.948-206C>A (n.948-206C>A)
c.927C>A (p.Cys309Ter)
c.276+17109G>T (n.276+17109G>T)
c.*220+5435C>A (n.*220+5435C>A)
c.51C>A (p.Cys17Ter)
c.78C>A (p.Cys26Ter)
c.933C>A (p.Cys311Ter)
c.747C>A (p.Cys249Ter)
c.666C>A (p.Cys222Ter)
c.372C>A (p.Cys124Ter)
c.753C>A (p.Cys251Ter)
2g.48688790C>ACA346750214GTF2A1L,LHCGR,STON1-GTF2A1Lc.1007G>T (p.Cys336Phe)
c.948-651G>T (n.948-651G>T)
c.3441+17110C>A (n.3441+17110C>A)
c.948-207G>T (n.948-207G>T)
c.926G>T (p.Cys309Phe)
c.276+17110C>A (n.276+17110C>A)
c.*220+5434G>T (n.*220+5434G>T)
c.50G>T (p.Cys17Phe)
c.77G>T (p.Cys26Phe)
c.932G>T (p.Cys311Phe)
c.746G>T (p.Cys249Phe)
c.665G>T (p.Cys222Phe)
c.371G>T (p.Cys124Phe)
c.752G>T (p.Cys251Phe)
2g.48688790C>GCA346750218GTF2A1L,LHCGR,STON1-GTF2A1Lc.1007G>C (p.Cys336Ser)
c.948-651G>C (n.948-651G>C)
c.3441+17110C>G (n.3441+17110C>G)
c.948-207G>C (n.948-207G>C)
c.926G>C (p.Cys309Ser)
c.276+17110C>G (n.276+17110C>G)
c.*220+5434G>C (n.*220+5434G>C)
c.50G>C (p.Cys17Ser)
c.77G>C (p.Cys26Ser)
c.932G>C (p.Cys311Ser)
c.746G>C (p.Cys249Ser)
c.665G>C (p.Cys222Ser)
c.371G>C (p.Cys124Ser)
c.752G>C (p.Cys251Ser)
2g.48688790C>TCA346750216GTF2A1L,LHCGR,STON1-GTF2A1Lc.1007G>A (p.Cys336Tyr)
c.948-651G>A (n.948-651G>A)
c.3441+17110C>T (n.3441+17110C>T)
c.948-207G>A (n.948-207G>A)
c.926G>A (p.Cys309Tyr)
c.276+17110C>T (n.276+17110C>T)
c.*220+5434G>A (n.*220+5434G>A)
c.50G>A (p.Cys17Tyr)
c.77G>A (p.Cys26Tyr)
c.932G>A (p.Cys311Tyr)
c.746G>A (p.Cys249Tyr)
c.665G>A (p.Cys222Tyr)
c.371G>A (p.Cys124Tyr)
c.752G>A (p.Cys251Tyr)
 gnomAD v4
2g.48688791A>CCA346750221GTF2A1L,LHCGR,STON1-GTF2A1Lc.1006T>G (p.Cys336Gly)
c.948-652T>G (n.948-652T>G)
c.3441+17111A>C (n.3441+17111A>C)
c.948-208T>G (n.948-208T>G)
c.925T>G (p.Cys309Gly)
c.276+17111A>C (n.276+17111A>C)
c.*220+5433T>G (n.*220+5433T>G)
c.49T>G (p.Cys17Gly)
c.76T>G (p.Cys26Gly)
c.931T>G (p.Cys311Gly)
c.745T>G (p.Cys249Gly)
c.664T>G (p.Cys222Gly)
c.370T>G (p.Cys124Gly)
c.751T>G (p.Cys251Gly)
2g.48688791A>GCA346750223GTF2A1L,LHCGR,STON1-GTF2A1Lc.1006T>C (p.Cys336Arg)
c.948-652T>C (n.948-652T>C)
c.3441+17111A>G (n.3441+17111A>G)
c.948-208T>C (n.948-208T>C)
c.925T>C (p.Cys309Arg)
c.276+17111A>G (n.276+17111A>G)
c.*220+5433T>C (n.*220+5433T>C)
c.49T>C (p.Cys17Arg)
c.76T>C (p.Cys26Arg)
c.931T>C (p.Cys311Arg)
c.745T>C (p.Cys249Arg)
c.664T>C (p.Cys222Arg)
c.370T>C (p.Cys124Arg)
c.751T>C (p.Cys251Arg)
2g.48688791A>TCA346750225GTF2A1L,LHCGR,STON1-GTF2A1Lc.1006T>A (p.Cys336Ser)
c.948-652T>A (n.948-652T>A)
c.3441+17111A>T (n.3441+17111A>T)
c.948-208T>A (n.948-208T>A)
c.925T>A (p.Cys309Ser)
c.276+17111A>T (n.276+17111A>T)
c.*220+5433T>A (n.*220+5433T>A)
c.49T>A (p.Cys17Ser)
c.76T>A (p.Cys26Ser)
c.931T>A (p.Cys311Ser)
c.745T>A (p.Cys249Ser)
c.664T>A (p.Cys222Ser)
c.370T>A (p.Cys124Ser)
c.751T>A (p.Cys251Ser)
2g.48688792G>ACA426124855GTF2A1L,LHCGR,STON1-GTF2A1Lc.1005C>T (p.Phe335=)
c.948-653C>T (n.948-653C>T)
c.3441+17112G>A (n.3441+17112G>A)
c.948-209C>T (n.948-209C>T)
c.924C>T (p.Phe308=)
c.276+17112G>A (n.276+17112G>A)
c.*220+5432C>T (n.*220+5432C>T)
c.48C>T (p.Phe16=)
c.75C>T (p.Phe25=)
c.930C>T (p.Phe310=)
c.744C>T (p.Phe248=)
c.663C>T (p.Phe221=)
c.369C>T (p.Phe123=)
c.750C>T (p.Phe250=)
 dbSNP gnomAD v3 gnomAD v4
2g.48688792G>CCA346750228GTF2A1L,LHCGR,STON1-GTF2A1Lc.1005C>G (p.Phe335Leu)
c.948-653C>G (n.948-653C>G)
c.3441+17112G>C (n.3441+17112G>C)
c.948-209C>G (n.948-209C>G)
c.924C>G (p.Phe308Leu)
c.276+17112G>C (n.276+17112G>C)
c.*220+5432C>G (n.*220+5432C>G)
c.48C>G (p.Phe16Leu)
c.75C>G (p.Phe25Leu)
c.930C>G (p.Phe310Leu)
c.744C>G (p.Phe248Leu)
c.663C>G (p.Phe221Leu)
c.369C>G (p.Phe123Leu)
c.750C>G (p.Phe250Leu)
2g.48688792G=CA1248601272GTF2A1L,LHCGR,STON1-GTF2A1Lc.1005C= (p.Phe335=)
c.948-653C= (n.948-653C=)
c.3441+17112G= (n.3441+17112G=)
c.948-209C= (n.948-209C=)
c.924C= (p.Phe308=)
c.276+17112G= (n.276+17112G=)
c.*220+5432C= (n.*220+5432C=)
c.48C= (p.Phe16=)
c.75C= (p.Phe25=)
c.930C= (p.Phe310=)
c.744C= (p.Phe248=)
c.663C= (p.Phe221=)
c.369C= (p.Phe123=)
c.750C= (p.Phe250=)
2g.48688792G>TCA346750230GTF2A1L,LHCGR,STON1-GTF2A1Lc.1005C>A (p.Phe335Leu)
c.948-653C>A (n.948-653C>A)
c.3441+17112G>T (n.3441+17112G>T)
c.948-209C>A (n.948-209C>A)
c.924C>A (p.Phe308Leu)
c.276+17112G>T (n.276+17112G>T)
c.*220+5432C>A (n.*220+5432C>A)
c.48C>A (p.Phe16Leu)
c.75C>A (p.Phe25Leu)
c.930C>A (p.Phe310Leu)
c.744C>A (p.Phe248Leu)
c.663C>A (p.Phe221Leu)
c.369C>A (p.Phe123Leu)
c.750C>A (p.Phe250Leu)
 COSMIC
2g.48688793A>CCA346750233GTF2A1L,LHCGR,STON1-GTF2A1Lc.1004T>G (p.Phe335Cys)
c.948-654T>G (n.948-654T>G)
c.3441+17113A>C (n.3441+17113A>C)
c.948-210T>G (n.948-210T>G)
c.923T>G (p.Phe308Cys)
c.276+17113A>C (n.276+17113A>C)
c.*220+5431T>G (n.*220+5431T>G)
c.47T>G (p.Phe16Cys)
c.74T>G (p.Phe25Cys)
c.929T>G (p.Phe310Cys)
c.743T>G (p.Phe248Cys)
c.662T>G (p.Phe221Cys)
c.368T>G (p.Phe123Cys)
c.749T>G (p.Phe250Cys)
2g.48688793A>GCA346750236GTF2A1L,LHCGR,STON1-GTF2A1Lc.1004T>C (p.Phe335Ser)
c.948-654T>C (n.948-654T>C)
c.3441+17113A>G (n.3441+17113A>G)
c.948-210T>C (n.948-210T>C)
c.923T>C (p.Phe308Ser)
c.276+17113A>G (n.276+17113A>G)
c.*220+5431T>C (n.*220+5431T>C)
c.47T>C (p.Phe16Ser)
c.74T>C (p.Phe25Ser)
c.929T>C (p.Phe310Ser)
c.743T>C (p.Phe248Ser)
c.662T>C (p.Phe221Ser)
c.368T>C (p.Phe123Ser)
c.749T>C (p.Phe250Ser)
 gnomAD v4
2g.48688793A>TCA346750238GTF2A1L,LHCGR,STON1-GTF2A1Lc.1004T>A (p.Phe335Tyr)
c.948-654T>A (n.948-654T>A)
c.3441+17113A>T (n.3441+17113A>T)
c.948-210T>A (n.948-210T>A)
c.923T>A (p.Phe308Tyr)
c.276+17113A>T (n.276+17113A>T)
c.*220+5431T>A (n.*220+5431T>A)
c.47T>A (p.Phe16Tyr)
c.74T>A (p.Phe25Tyr)
c.929T>A (p.Phe310Tyr)
c.743T>A (p.Phe248Tyr)
c.662T>A (p.Phe221Tyr)
c.368T>A (p.Phe123Tyr)
c.749T>A (p.Phe250Tyr)
2g.48688794A>CCA346750239GTF2A1L,LHCGR,STON1-GTF2A1Lc.1003T>G (p.Phe335Val)
c.948-655T>G (n.948-655T>G)
c.3441+17114A>C (n.3441+17114A>C)
c.948-211T>G (n.948-211T>G)
c.922T>G (p.Phe308Val)
c.276+17114A>C (n.276+17114A>C)
c.*220+5430T>G (n.*220+5430T>G)
c.46T>G (p.Phe16Val)
c.73T>G (p.Phe25Val)
c.928T>G (p.Phe310Val)
c.742T>G (p.Phe248Val)
c.661T>G (p.Phe221Val)
c.367T>G (p.Phe123Val)
c.748T>G (p.Phe250Val)
2g.48688794A>GCA346750241GTF2A1L,LHCGR,STON1-GTF2A1Lc.1003T>C (p.Phe335Leu)
c.948-655T>C (n.948-655T>C)
c.3441+17114A>G (n.3441+17114A>G)
c.948-211T>C (n.948-211T>C)
c.922T>C (p.Phe308Leu)
c.276+17114A>G (n.276+17114A>G)
c.*220+5430T>C (n.*220+5430T>C)
c.46T>C (p.Phe16Leu)
c.73T>C (p.Phe25Leu)
c.928T>C (p.Phe310Leu)
c.742T>C (p.Phe248Leu)
c.661T>C (p.Phe221Leu)
c.367T>C (p.Phe123Leu)
c.748T>C (p.Phe250Leu)
2g.48688794A>TCA346750242GTF2A1L,LHCGR,STON1-GTF2A1Lc.1003T>A (p.Phe335Ile)
c.948-655T>A (n.948-655T>A)
c.3441+17114A>T (n.3441+17114A>T)
c.948-211T>A (n.948-211T>A)
c.922T>A (p.Phe308Ile)
c.276+17114A>T (n.276+17114A>T)
c.*220+5430T>A (n.*220+5430T>A)
c.46T>A (p.Phe16Ile)
c.73T>A (p.Phe25Ile)
c.928T>A (p.Phe310Ile)
c.742T>A (p.Phe248Ile)
c.661T>A (p.Phe221Ile)
c.367T>A (p.Phe123Ile)
c.748T>A (p.Phe250Ile)
2g.48688795A=CA1248601273GTF2A1L,LHCGR,STON1-GTF2A1Lc.1002T= (p.Gly334=)
c.948-656T= (n.948-656T=)
c.3441+17115A= (n.3441+17115A=)
c.948-212T= (n.948-212T=)
c.921T= (p.Gly307=)
c.276+17115A= (n.276+17115A=)
c.*220+5429T= (n.*220+5429T=)
c.45T= (p.Gly15=)
c.72T= (p.Gly24=)
c.927T= (p.Gly309=)
c.741T= (p.Gly247=)
c.660T= (p.Gly220=)
c.366T= (p.Gly122=)
c.747T= (p.Gly249=)
2g.48688795A>CCA426124856GTF2A1L,LHCGR,STON1-GTF2A1Lc.1002T>G (p.Gly334=)
c.948-656T>G (n.948-656T>G)
c.3441+17115A>C (n.3441+17115A>C)
c.948-212T>G (n.948-212T>G)
c.921T>G (p.Gly307=)
c.276+17115A>C (n.276+17115A>C)
c.*220+5429T>G (n.*220+5429T>G)
c.45T>G (p.Gly15=)
c.72T>G (p.Gly24=)
c.927T>G (p.Gly309=)
c.741T>G (p.Gly247=)
c.660T>G (p.Gly220=)
c.366T>G (p.Gly122=)
c.747T>G (p.Gly249=)
 dbSNP
2g.48688795A>GCA426124857GTF2A1L,LHCGR,STON1-GTF2A1Lc.1002T>C (p.Gly334=)
c.948-656T>C (n.948-656T>C)
c.3441+17115A>G (n.3441+17115A>G)
c.948-212T>C (n.948-212T>C)
c.921T>C (p.Gly307=)
c.276+17115A>G (n.276+17115A>G)
c.*220+5429T>C (n.*220+5429T>C)
c.45T>C (p.Gly15=)
c.72T>C (p.Gly24=)
c.927T>C (p.Gly309=)
c.741T>C (p.Gly247=)
c.660T>C (p.Gly220=)
c.366T>C (p.Gly122=)
c.747T>C (p.Gly249=)
2g.48688795A>TCA426124858GTF2A1L,LHCGR,STON1-GTF2A1Lc.1002T>A (p.Gly334=)
c.948-656T>A (n.948-656T>A)
c.3441+17115A>T (n.3441+17115A>T)
c.948-212T>A (n.948-212T>A)
c.921T>A (p.Gly307=)
c.276+17115A>T (n.276+17115A>T)
c.*220+5429T>A (n.*220+5429T>A)
c.45T>A (p.Gly15=)
c.72T>A (p.Gly24=)
c.927T>A (p.Gly309=)
c.741T>A (p.Gly247=)
c.660T>A (p.Gly220=)
c.366T>A (p.Gly122=)
c.747T>A (p.Gly249=)
2g.48688796C>ACA346750247GTF2A1L,LHCGR,STON1-GTF2A1Lc.1001G>T (p.Gly334Val)
c.948-657G>T (n.948-657G>T)
c.3441+17116C>A (n.3441+17116C>A)
c.948-213G>T (n.948-213G>T)
c.920G>T (p.Gly307Val)
c.276+17116C>A (n.276+17116C>A)
c.*220+5428G>T (n.*220+5428G>T)
c.44G>T (p.Gly15Val)
c.71G>T (p.Gly24Val)
c.926G>T (p.Gly309Val)
c.740G>T (p.Gly247Val)
c.659G>T (p.Gly220Val)
c.365G>T (p.Gly122Val)
c.746G>T (p.Gly249Val)
2g.48688796C=CA1248601274GTF2A1L,LHCGR,STON1-GTF2A1Lc.1001G= (p.Gly334=)
c.948-657G= (n.948-657G=)
c.3441+17116C= (n.3441+17116C=)
c.948-213G= (n.948-213G=)
c.920G= (p.Gly307=)
c.276+17116C= (n.276+17116C=)
c.*220+5428G= (n.*220+5428G=)
c.44G= (p.Gly15=)
c.71G= (p.Gly24=)
c.926G= (p.Gly309=)
c.740G= (p.Gly247=)
c.659G= (p.Gly220=)
c.365G= (p.Gly122=)
c.746G= (p.Gly249=)
2g.48688796C>GCA346750244GTF2A1L,LHCGR,STON1-GTF2A1Lc.1001G>C (p.Gly334Ala)
c.948-657G>C (n.948-657G>C)
c.3441+17116C>G (n.3441+17116C>G)
c.948-213G>C (n.948-213G>C)
c.920G>C (p.Gly307Ala)
c.276+17116C>G (n.276+17116C>G)
c.*220+5428G>C (n.*220+5428G>C)
c.44G>C (p.Gly15Ala)
c.71G>C (p.Gly24Ala)
c.926G>C (p.Gly309Ala)
c.740G>C (p.Gly247Ala)
c.659G>C (p.Gly220Ala)
c.365G>C (p.Gly122Ala)
c.746G>C (p.Gly249Ala)
2g.48688796C>TCA1653097GTF2A1L,LHCGR,STON1-GTF2A1Lc.1001G>A (p.Gly334Asp)
c.948-657G>A (n.948-657G>A)
c.3441+17116C>T (n.3441+17116C>T)
c.948-213G>A (n.948-213G>A)
c.920G>A (p.Gly307Asp)
c.276+17116C>T (n.276+17116C>T)
c.*220+5428G>A (n.*220+5428G>A)
c.44G>A (p.Gly15Asp)
c.71G>A (p.Gly24Asp)
c.926G>A (p.Gly309Asp)
c.740G>A (p.Gly247Asp)
c.659G>A (p.Gly220Asp)
c.365G>A (p.Gly122Asp)
c.746G>A (p.Gly249Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688797C>ACA346750250GTF2A1L,LHCGR,STON1-GTF2A1Lc.1000G>T (p.Gly334Cys)
c.948-658G>T (n.948-658G>T)
c.3441+17117C>A (n.3441+17117C>A)
c.948-214G>T (n.948-214G>T)
c.919G>T (p.Gly307Cys)
c.276+17117C>A (n.276+17117C>A)
c.*220+5427G>T (n.*220+5427G>T)
c.43G>T (p.Gly15Cys)
c.70G>T (p.Gly24Cys)
c.925G>T (p.Gly309Cys)
c.739G>T (p.Gly247Cys)
c.658G>T (p.Gly220Cys)
c.364G>T (p.Gly122Cys)
c.745G>T (p.Gly249Cys)
 dbSNP
2g.48688797C=CA1248601275GTF2A1L,LHCGR,STON1-GTF2A1Lc.1000G= (p.Gly334=)
c.948-658G= (n.948-658G=)
c.3441+17117C= (n.3441+17117C=)
c.948-214G= (n.948-214G=)
c.919G= (p.Gly307=)
c.276+17117C= (n.276+17117C=)
c.*220+5427G= (n.*220+5427G=)
c.43G= (p.Gly15=)
c.70G= (p.Gly24=)
c.925G= (p.Gly309=)
c.739G= (p.Gly247=)
c.658G= (p.Gly220=)
c.364G= (p.Gly122=)
c.745G= (p.Gly249=)
2g.48688797C>GCA346750252GTF2A1L,LHCGR,STON1-GTF2A1Lc.1000G>C (p.Gly334Arg)
c.948-658G>C (n.948-658G>C)
c.3441+17117C>G (n.3441+17117C>G)
c.948-214G>C (n.948-214G>C)
c.919G>C (p.Gly307Arg)
c.276+17117C>G (n.276+17117C>G)
c.*220+5427G>C (n.*220+5427G>C)
c.43G>C (p.Gly15Arg)
c.70G>C (p.Gly24Arg)
c.925G>C (p.Gly309Arg)
c.739G>C (p.Gly247Arg)
c.658G>C (p.Gly220Arg)
c.364G>C (p.Gly122Arg)
c.745G>C (p.Gly249Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.48688797C>TCA46753428GTF2A1L,LHCGR,STON1-GTF2A1Lc.1000G>A (p.Gly334Ser)
c.948-658G>A (n.948-658G>A)
c.3441+17117C>T (n.3441+17117C>T)
c.948-214G>A (n.948-214G>A)
c.919G>A (p.Gly307Ser)
c.276+17117C>T (n.276+17117C>T)
c.*220+5427G>A (n.*220+5427G>A)
c.43G>A (p.Gly15Ser)
c.70G>A (p.Gly24Ser)
c.925G>A (p.Gly309Ser)
c.739G>A (p.Gly247Ser)
c.658G>A (p.Gly220Ser)
c.364G>A (p.Gly122Ser)
c.745G>A (p.Gly249Ser)
 dbSNP
2g.48688798A>CCA346750254GTF2A1L,LHCGR,STON1-GTF2A1Lc.999T>G (p.Tyr333Ter)
c.948-659T>G (n.948-659T>G)
c.3441+17118A>C (n.3441+17118A>C)
c.948-215T>G (n.948-215T>G)
c.918T>G (p.Tyr306Ter)
c.276+17118A>C (n.276+17118A>C)
c.*220+5426T>G (n.*220+5426T>G)
c.42T>G (p.Tyr14Ter)
c.69T>G (p.Tyr23Ter)
c.924T>G (p.Tyr308Ter)
c.738T>G (p.Tyr246Ter)
c.657T>G (p.Tyr219Ter)
c.363T>G (p.Tyr121Ter)
c.744T>G (p.Tyr248Ter)
2g.48688798A>GCA426124859GTF2A1L,LHCGR,STON1-GTF2A1Lc.999T>C (p.Tyr333=)
c.948-659T>C (n.948-659T>C)
c.3441+17118A>G (n.3441+17118A>G)
c.948-215T>C (n.948-215T>C)
c.918T>C (p.Tyr306=)
c.276+17118A>G (n.276+17118A>G)
c.*220+5426T>C (n.*220+5426T>C)
c.42T>C (p.Tyr14=)
c.69T>C (p.Tyr23=)
c.924T>C (p.Tyr308=)
c.738T>C (p.Tyr246=)
c.657T>C (p.Tyr219=)
c.363T>C (p.Tyr121=)
c.744T>C (p.Tyr248=)
2g.48688798A>TCA346750256GTF2A1L,LHCGR,STON1-GTF2A1Lc.999T>A (p.Tyr333Ter)
c.948-659T>A (n.948-659T>A)
c.3441+17118A>T (n.3441+17118A>T)
c.948-215T>A (n.948-215T>A)
c.918T>A (p.Tyr306Ter)
c.276+17118A>T (n.276+17118A>T)
c.*220+5426T>A (n.*220+5426T>A)
c.42T>A (p.Tyr14Ter)
c.69T>A (p.Tyr23Ter)
c.924T>A (p.Tyr308Ter)
c.738T>A (p.Tyr246Ter)
c.657T>A (p.Tyr219Ter)
c.363T>A (p.Tyr121Ter)
c.744T>A (p.Tyr248Ter)
2g.48688799T>ACA346750259GTF2A1L,LHCGR,STON1-GTF2A1Lc.998A>T (p.Tyr333Phe)
c.948-660A>T (n.948-660A>T)
c.3441+17119T>A (n.3441+17119T>A)
c.948-216A>T (n.948-216A>T)
c.917A>T (p.Tyr306Phe)
c.276+17119T>A (n.276+17119T>A)
c.*220+5425A>T (n.*220+5425A>T)
c.41A>T (p.Tyr14Phe)
c.68A>T (p.Tyr23Phe)
c.923A>T (p.Tyr308Phe)
c.737A>T (p.Tyr246Phe)
c.656A>T (p.Tyr219Phe)
c.362A>T (p.Tyr121Phe)
c.743A>T (p.Tyr248Phe)
2g.48688799T>CCA346750261GTF2A1L,LHCGR,STON1-GTF2A1Lc.998A>G (p.Tyr333Cys)
c.948-660A>G (n.948-660A>G)
c.3441+17119T>C (n.3441+17119T>C)
c.948-216A>G (n.948-216A>G)
c.917A>G (p.Tyr306Cys)
c.276+17119T>C (n.276+17119T>C)
c.*220+5425A>G (n.*220+5425A>G)
c.41A>G (p.Tyr14Cys)
c.68A>G (p.Tyr23Cys)
c.923A>G (p.Tyr308Cys)
c.737A>G (p.Tyr246Cys)
c.656A>G (p.Tyr219Cys)
c.362A>G (p.Tyr121Cys)
c.743A>G (p.Tyr248Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688799T>GCA346750263GTF2A1L,LHCGR,STON1-GTF2A1Lc.998A>C (p.Tyr333Ser)
c.948-660A>C (n.948-660A>C)
c.3441+17119T>G (n.3441+17119T>G)
c.948-216A>C (n.948-216A>C)
c.917A>C (p.Tyr306Ser)
c.276+17119T>G (n.276+17119T>G)
c.*220+5425A>C (n.*220+5425A>C)
c.41A>C (p.Tyr14Ser)
c.68A>C (p.Tyr23Ser)
c.923A>C (p.Tyr308Ser)
c.737A>C (p.Tyr246Ser)
c.656A>C (p.Tyr219Ser)
c.362A>C (p.Tyr121Ser)
c.743A>C (p.Tyr248Ser)
2g.48688799T=CA1248601276GTF2A1L,LHCGR,STON1-GTF2A1Lc.998A= (p.Tyr333=)
c.948-660A= (n.948-660A=)
c.3441+17119T= (n.3441+17119T=)
c.948-216A= (n.948-216A=)
c.917A= (p.Tyr306=)
c.276+17119T= (n.276+17119T=)
c.*220+5425A= (n.*220+5425A=)
c.41A= (p.Tyr14=)
c.68A= (p.Tyr23=)
c.923A= (p.Tyr308=)
c.737A= (p.Tyr246=)
c.656A= (p.Tyr219=)
c.362A= (p.Tyr121=)
c.743A= (p.Tyr248=)
2g.48688800A>CCA346750266GTF2A1L,LHCGR,STON1-GTF2A1Lc.997T>G (p.Tyr333Asp)
c.948-661T>G (n.948-661T>G)
c.3441+17120A>C (n.3441+17120A>C)
c.948-217T>G (n.948-217T>G)
c.916T>G (p.Tyr306Asp)
c.276+17120A>C (n.276+17120A>C)
c.*220+5424T>G (n.*220+5424T>G)
c.40T>G (p.Tyr14Asp)
c.67T>G (p.Tyr23Asp)
c.922T>G (p.Tyr308Asp)
c.736T>G (p.Tyr246Asp)
c.655T>G (p.Tyr219Asp)
c.361T>G (p.Tyr121Asp)
c.742T>G (p.Tyr248Asp)
2g.48688800A>GCA346750268GTF2A1L,LHCGR,STON1-GTF2A1Lc.997T>C (p.Tyr333His)
c.948-661T>C (n.948-661T>C)
c.3441+17120A>G (n.3441+17120A>G)
c.948-217T>C (n.948-217T>C)
c.916T>C (p.Tyr306His)
c.276+17120A>G (n.276+17120A>G)
c.*220+5424T>C (n.*220+5424T>C)
c.40T>C (p.Tyr14His)
c.67T>C (p.Tyr23His)
c.922T>C (p.Tyr308His)
c.736T>C (p.Tyr246His)
c.655T>C (p.Tyr219His)
c.361T>C (p.Tyr121His)
c.742T>C (p.Tyr248His)
2g.48688800A>TCA346750270GTF2A1L,LHCGR,STON1-GTF2A1Lc.997T>A (p.Tyr333Asn)
c.948-661T>A (n.948-661T>A)
c.3441+17120A>T (n.3441+17120A>T)
c.948-217T>A (n.948-217T>A)
c.916T>A (p.Tyr306Asn)
c.276+17120A>T (n.276+17120A>T)
c.*220+5424T>A (n.*220+5424T>A)
c.40T>A (p.Tyr14Asn)
c.67T>A (p.Tyr23Asn)
c.922T>A (p.Tyr308Asn)
c.736T>A (p.Tyr246Asn)
c.655T>A (p.Tyr219Asn)
c.361T>A (p.Tyr121Asn)
c.742T>A (p.Tyr248Asn)
 gnomAD v4
2g.48688801T>ACA46753437GTF2A1L,LHCGR,STON1-GTF2A1Lc.996A>T (p.Glu332Asp)
c.948-662A>T (n.948-662A>T)
c.3441+17121T>A (n.3441+17121T>A)
c.948-218A>T (n.948-218A>T)
c.915A>T (p.Glu305Asp)
c.276+17121T>A (n.276+17121T>A)
c.*220+5423A>T (n.*220+5423A>T)
c.39A>T (p.Glu13Asp)
c.66A>T (p.Glu22Asp)
c.921A>T (p.Glu307Asp)
c.735A>T (p.Glu245Asp)
c.654A>T (p.Glu218Asp)
c.360A>T (p.Glu120Asp)
c.741A>T (p.Glu247Asp)
 dbSNP
2g.48688801T>CCA1653098GTF2A1L,LHCGR,STON1-GTF2A1Lc.996A>G (p.Glu332=)
c.948-662A>G (n.948-662A>G)
c.3441+17121T>C (n.3441+17121T>C)
c.948-218A>G (n.948-218A>G)
c.915A>G (p.Glu305=)
c.276+17121T>C (n.276+17121T>C)
c.*220+5423A>G (n.*220+5423A>G)
c.39A>G (p.Glu13=)
c.66A>G (p.Glu22=)
c.921A>G (p.Glu307=)
c.735A>G (p.Glu245=)
c.654A>G (p.Glu218=)
c.360A>G (p.Glu120=)
c.741A>G (p.Glu247=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688801T>GCA346750273GTF2A1L,LHCGR,STON1-GTF2A1Lc.996A>C (p.Glu332Asp)
c.948-662A>C (n.948-662A>C)
c.3441+17121T>G (n.3441+17121T>G)
c.948-218A>C (n.948-218A>C)
c.915A>C (p.Glu305Asp)
c.276+17121T>G (n.276+17121T>G)
c.*220+5423A>C (n.*220+5423A>C)
c.39A>C (p.Glu13Asp)
c.66A>C (p.Glu22Asp)
c.921A>C (p.Glu307Asp)
c.735A>C (p.Glu245Asp)
c.654A>C (p.Glu218Asp)
c.360A>C (p.Glu120Asp)
c.741A>C (p.Glu247Asp)
2g.48688801T=CA1248601277GTF2A1L,LHCGR,STON1-GTF2A1Lc.996A= (p.Glu332=)
c.948-662A= (n.948-662A=)
c.3441+17121T= (n.3441+17121T=)
c.948-218A= (n.948-218A=)
c.915A= (p.Glu305=)
c.276+17121T= (n.276+17121T=)
c.*220+5423A= (n.*220+5423A=)
c.39A= (p.Glu13=)
c.66A= (p.Glu22=)
c.921A= (p.Glu307=)
c.735A= (p.Glu245=)
c.654A= (p.Glu218=)
c.360A= (p.Glu120=)
c.741A= (p.Glu247=)
2g.48688802T>ACA346750278GTF2A1L,LHCGR,STON1-GTF2A1Lc.995A>T (p.Glu332Val)
c.948-663A>T (n.948-663A>T)
c.3441+17122T>A (n.3441+17122T>A)
c.948-219A>T (n.948-219A>T)
c.914A>T (p.Glu305Val)
c.276+17122T>A (n.276+17122T>A)
c.*220+5422A>T (n.*220+5422A>T)
c.38A>T (p.Glu13Val)
c.65A>T (p.Glu22Val)
c.920A>T (p.Glu307Val)
c.734A>T (p.Glu245Val)
c.653A>T (p.Glu218Val)
c.359A>T (p.Glu120Val)
c.740A>T (p.Glu247Val)
2g.48688802T>CCA346750281GTF2A1L,LHCGR,STON1-GTF2A1Lc.995A>G (p.Glu332Gly)
c.948-663A>G (n.948-663A>G)
c.3441+17122T>C (n.3441+17122T>C)
c.948-219A>G (n.948-219A>G)
c.914A>G (p.Glu305Gly)
c.276+17122T>C (n.276+17122T>C)
c.*220+5422A>G (n.*220+5422A>G)
c.38A>G (p.Glu13Gly)
c.65A>G (p.Glu22Gly)
c.920A>G (p.Glu307Gly)
c.734A>G (p.Glu245Gly)
c.653A>G (p.Glu218Gly)
c.359A>G (p.Glu120Gly)
c.740A>G (p.Glu247Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.48688802T>GCA346750283GTF2A1L,LHCGR,STON1-GTF2A1Lc.995A>C (p.Glu332Ala)
c.948-663A>C (n.948-663A>C)
c.3441+17122T>G (n.3441+17122T>G)
c.948-219A>C (n.948-219A>C)
c.914A>C (p.Glu305Ala)
c.276+17122T>G (n.276+17122T>G)
c.*220+5422A>C (n.*220+5422A>C)
c.38A>C (p.Glu13Ala)
c.65A>C (p.Glu22Ala)
c.920A>C (p.Glu307Ala)
c.734A>C (p.Glu245Ala)
c.653A>C (p.Glu218Ala)
c.359A>C (p.Glu120Ala)
c.740A>C (p.Glu247Ala)
2g.48688802T=CA1248601278GTF2A1L,LHCGR,STON1-GTF2A1Lc.995A= (p.Glu332=)
c.948-663A= (n.948-663A=)
c.3441+17122T= (n.3441+17122T=)
c.948-219A= (n.948-219A=)
c.914A= (p.Glu305=)
c.276+17122T= (n.276+17122T=)
c.*220+5422A= (n.*220+5422A=)
c.38A= (p.Glu13=)
c.65A= (p.Glu22=)
c.920A= (p.Glu307=)
c.734A= (p.Glu245=)
c.653A= (p.Glu218=)
c.359A= (p.Glu120=)
c.740A= (p.Glu247=)
2g.48688803C>ACA346750287GTF2A1L,LHCGR,STON1-GTF2A1Lc.994G>T (p.Glu332Ter)
c.948-664G>T (n.948-664G>T)
c.3441+17123C>A (n.3441+17123C>A)
c.948-220G>T (n.948-220G>T)
c.913G>T (p.Glu305Ter)
c.276+17123C>A (n.276+17123C>A)
c.*220+5421G>T (n.*220+5421G>T)
c.37G>T (p.Glu13Ter)
c.64G>T (p.Glu22Ter)
c.919G>T (p.Glu307Ter)
c.733G>T (p.Glu245Ter)
c.652G>T (p.Glu218Ter)
c.358G>T (p.Glu120Ter)
c.739G>T (p.Glu247Ter)
2g.48688803C>GCA346750288GTF2A1L,LHCGR,STON1-GTF2A1Lc.994G>C (p.Glu332Gln)
c.948-664G>C (n.948-664G>C)
c.3441+17123C>G (n.3441+17123C>G)
c.948-220G>C (n.948-220G>C)
c.913G>C (p.Glu305Gln)
c.276+17123C>G (n.276+17123C>G)
c.*220+5421G>C (n.*220+5421G>C)
c.37G>C (p.Glu13Gln)
c.64G>C (p.Glu22Gln)
c.919G>C (p.Glu307Gln)
c.733G>C (p.Glu245Gln)
c.652G>C (p.Glu218Gln)
c.358G>C (p.Glu120Gln)
c.739G>C (p.Glu247Gln)
 COSMIC
2g.48688803C>TCA346750290GTF2A1L,LHCGR,STON1-GTF2A1Lc.994G>A (p.Glu332Lys)
c.948-664G>A (n.948-664G>A)
c.3441+17123C>T (n.3441+17123C>T)
c.948-220G>A (n.948-220G>A)
c.913G>A (p.Glu305Lys)
c.276+17123C>T (n.276+17123C>T)
c.*220+5421G>A (n.*220+5421G>A)
c.37G>A (p.Glu13Lys)
c.64G>A (p.Glu22Lys)
c.919G>A (p.Glu307Lys)
c.733G>A (p.Glu245Lys)
c.652G>A (p.Glu218Lys)
c.358G>A (p.Glu120Lys)
c.739G>A (p.Glu247Lys)
2g.48688804A=CA1248601279GTF2A1L,LHCGR,STON1-GTF2A1Lc.993T= (p.Tyr331=)
c.948-665T= (n.948-665T=)
c.3441+17124A= (n.3441+17124A=)
c.948-221T= (n.948-221T=)
c.912T= (p.Tyr304=)
c.276+17124A= (n.276+17124A=)
c.*220+5420T= (n.*220+5420T=)
c.36T= (p.Tyr12=)
c.63T= (p.Tyr21=)
c.918T= (p.Tyr306=)
c.732T= (p.Tyr244=)
c.651T= (p.Tyr217=)
c.357T= (p.Tyr119=)
c.738T= (p.Tyr246=)
2g.48688804A>CCA346750294GTF2A1L,LHCGR,STON1-GTF2A1Lc.993T>G (p.Tyr331Ter)
c.948-665T>G (n.948-665T>G)
c.3441+17124A>C (n.3441+17124A>C)
c.948-221T>G (n.948-221T>G)
c.912T>G (p.Tyr304Ter)
c.276+17124A>C (n.276+17124A>C)
c.*220+5420T>G (n.*220+5420T>G)
c.36T>G (p.Tyr12Ter)
c.63T>G (p.Tyr21Ter)
c.918T>G (p.Tyr306Ter)
c.732T>G (p.Tyr244Ter)
c.651T>G (p.Tyr217Ter)
c.357T>G (p.Tyr119Ter)
c.738T>G (p.Tyr246Ter)
2g.48688804A>GCA426124860GTF2A1L,LHCGR,STON1-GTF2A1Lc.993T>C (p.Tyr331=)
c.948-665T>C (n.948-665T>C)
c.3441+17124A>G (n.3441+17124A>G)
c.948-221T>C (n.948-221T>C)
c.912T>C (p.Tyr304=)
c.276+17124A>G (n.276+17124A>G)
c.*220+5420T>C (n.*220+5420T>C)
c.36T>C (p.Tyr12=)
c.63T>C (p.Tyr21=)
c.918T>C (p.Tyr306=)
c.732T>C (p.Tyr244=)
c.651T>C (p.Tyr217=)
c.357T>C (p.Tyr119=)
c.738T>C (p.Tyr246=)
 dbSNP gnomAD v4
2g.48688804A>TCA346750296GTF2A1L,LHCGR,STON1-GTF2A1Lc.993T>A (p.Tyr331Ter)
c.948-665T>A (n.948-665T>A)
c.3441+17124A>T (n.3441+17124A>T)
c.948-221T>A (n.948-221T>A)
c.912T>A (p.Tyr304Ter)
c.276+17124A>T (n.276+17124A>T)
c.*220+5420T>A (n.*220+5420T>A)
c.36T>A (p.Tyr12Ter)
c.63T>A (p.Tyr21Ter)
c.918T>A (p.Tyr306Ter)
c.732T>A (p.Tyr244Ter)
c.651T>A (p.Tyr217Ter)
c.357T>A (p.Tyr119Ter)
c.738T>A (p.Tyr246Ter)
 ClinVar
2g.48688805T>ACA346750298GTF2A1L,LHCGR,STON1-GTF2A1Lc.992A>T (p.Tyr331Phe)
c.948-666A>T (n.948-666A>T)
c.3441+17125T>A (n.3441+17125T>A)
c.948-222A>T (n.948-222A>T)
c.911A>T (p.Tyr304Phe)
c.276+17125T>A (n.276+17125T>A)
c.*220+5419A>T (n.*220+5419A>T)
c.35A>T (p.Tyr12Phe)
c.62A>T (p.Tyr21Phe)
c.917A>T (p.Tyr306Phe)
c.731A>T (p.Tyr244Phe)
c.650A>T (p.Tyr217Phe)
c.356A>T (p.Tyr119Phe)
c.737A>T (p.Tyr246Phe)
2g.48688805T>CCA1653099GTF2A1L,LHCGR,STON1-GTF2A1Lc.992A>G (p.Tyr331Cys)
c.948-666A>G (n.948-666A>G)
c.3441+17125T>C (n.3441+17125T>C)
c.948-222A>G (n.948-222A>G)
c.911A>G (p.Tyr304Cys)
c.276+17125T>C (n.276+17125T>C)
c.*220+5419A>G (n.*220+5419A>G)
c.35A>G (p.Tyr12Cys)
c.62A>G (p.Tyr21Cys)
c.917A>G (p.Tyr306Cys)
c.731A>G (p.Tyr244Cys)
c.650A>G (p.Tyr217Cys)
c.356A>G (p.Tyr119Cys)
c.737A>G (p.Tyr246Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688805T>GCA346750302GTF2A1L,LHCGR,STON1-GTF2A1Lc.992A>C (p.Tyr331Ser)
c.948-666A>C (n.948-666A>C)
c.3441+17125T>G (n.3441+17125T>G)
c.948-222A>C (n.948-222A>C)
c.911A>C (p.Tyr304Ser)
c.276+17125T>G (n.276+17125T>G)
c.*220+5419A>C (n.*220+5419A>C)
c.35A>C (p.Tyr12Ser)
c.62A>C (p.Tyr21Ser)
c.917A>C (p.Tyr306Ser)
c.731A>C (p.Tyr244Ser)
c.650A>C (p.Tyr217Ser)
c.356A>C (p.Tyr119Ser)
c.737A>C (p.Tyr246Ser)
2g.48688805T=CA1248601280GTF2A1L,LHCGR,STON1-GTF2A1Lc.992A= (p.Tyr331=)
c.948-666A= (n.948-666A=)
c.3441+17125T= (n.3441+17125T=)
c.948-222A= (n.948-222A=)
c.911A= (p.Tyr304=)
c.276+17125T= (n.276+17125T=)
c.*220+5419A= (n.*220+5419A=)
c.35A= (p.Tyr12=)
c.62A= (p.Tyr21=)
c.917A= (p.Tyr306=)
c.731A= (p.Tyr244=)
c.650A= (p.Tyr217=)
c.356A= (p.Tyr119=)
c.737A= (p.Tyr246=)
2g.48688806A>CCA346750305GTF2A1L,LHCGR,STON1-GTF2A1Lc.991T>G (p.Tyr331Asp)
c.948-667T>G (n.948-667T>G)
c.3441+17126A>C (n.3441+17126A>C)
c.948-223T>G (n.948-223T>G)
c.910T>G (p.Tyr304Asp)
c.276+17126A>C (n.276+17126A>C)
c.*220+5418T>G (n.*220+5418T>G)
c.34T>G (p.Tyr12Asp)
c.61T>G (p.Tyr21Asp)
c.916T>G (p.Tyr306Asp)
c.730T>G (p.Tyr244Asp)
c.649T>G (p.Tyr217Asp)
c.355T>G (p.Tyr119Asp)
c.736T>G (p.Tyr246Asp)
2g.48688806A>GCA346750307GTF2A1L,LHCGR,STON1-GTF2A1Lc.991T>C (p.Tyr331His)
c.948-667T>C (n.948-667T>C)
c.3441+17126A>G (n.3441+17126A>G)
c.948-223T>C (n.948-223T>C)
c.910T>C (p.Tyr304His)
c.276+17126A>G (n.276+17126A>G)
c.*220+5418T>C (n.*220+5418T>C)
c.34T>C (p.Tyr12His)
c.61T>C (p.Tyr21His)
c.916T>C (p.Tyr306His)
c.730T>C (p.Tyr244His)
c.649T>C (p.Tyr217His)
c.355T>C (p.Tyr119His)
c.736T>C (p.Tyr246His)
2g.48688806A>TCA346750310GTF2A1L,LHCGR,STON1-GTF2A1Lc.991T>A (p.Tyr331Asn)
c.948-667T>A (n.948-667T>A)
c.3441+17126A>T (n.3441+17126A>T)
c.948-223T>A (n.948-223T>A)
c.910T>A (p.Tyr304Asn)
c.276+17126A>T (n.276+17126A>T)
c.*220+5418T>A (n.*220+5418T>A)
c.34T>A (p.Tyr12Asn)
c.61T>A (p.Tyr21Asn)
c.916T>A (p.Tyr306Asn)
c.730T>A (p.Tyr244Asn)
c.649T>A (p.Tyr217Asn)
c.355T>A (p.Tyr119Asn)
c.736T>A (p.Tyr246Asn)
2g.48688807G>ACA426124861GTF2A1L,LHCGR,STON1-GTF2A1Lc.990C>T (p.Asp330=)
c.948-668C>T (n.948-668C>T)
c.3441+17127G>A (n.3441+17127G>A)
c.948-224C>T (n.948-224C>T)
c.909C>T (p.Asp303=)
c.276+17127G>A (n.276+17127G>A)
c.*220+5417C>T (n.*220+5417C>T)
c.33C>T (p.Asp11=)
c.60C>T (p.Asp20=)
c.915C>T (p.Asp305=)
c.729C>T (p.Asp243=)
c.648C>T (p.Asp216=)
c.354C>T (p.Asp118=)
c.735C>T (p.Asp245=)
2g.48688807G>CCA346750312GTF2A1L,LHCGR,STON1-GTF2A1Lc.990C>G (p.Asp330Glu)
c.948-668C>G (n.948-668C>G)
c.3441+17127G>C (n.3441+17127G>C)
c.948-224C>G (n.948-224C>G)
c.909C>G (p.Asp303Glu)
c.276+17127G>C (n.276+17127G>C)
c.*220+5417C>G (n.*220+5417C>G)
c.33C>G (p.Asp11Glu)
c.60C>G (p.Asp20Glu)
c.915C>G (p.Asp305Glu)
c.729C>G (p.Asp243Glu)
c.648C>G (p.Asp216Glu)
c.354C>G (p.Asp118Glu)
c.735C>G (p.Asp245Glu)
2g.48688807G>TCA346750315GTF2A1L,LHCGR,STON1-GTF2A1Lc.990C>A (p.Asp330Glu)
c.948-668C>A (n.948-668C>A)
c.3441+17127G>T (n.3441+17127G>T)
c.948-224C>A (n.948-224C>A)
c.909C>A (p.Asp303Glu)
c.276+17127G>T (n.276+17127G>T)
c.*220+5417C>A (n.*220+5417C>A)
c.33C>A (p.Asp11Glu)
c.60C>A (p.Asp20Glu)
c.915C>A (p.Asp305Glu)
c.729C>A (p.Asp243Glu)
c.648C>A (p.Asp216Glu)
c.354C>A (p.Asp118Glu)
c.735C>A (p.Asp245Glu)
2g.48688808T>ACA346750318GTF2A1L,LHCGR,STON1-GTF2A1Lc.989A>T (p.Asp330Val)
c.948-669A>T (n.948-669A>T)
c.3441+17128T>A (n.3441+17128T>A)
c.948-225A>T (n.948-225A>T)
c.908A>T (p.Asp303Val)
c.276+17128T>A (n.276+17128T>A)
c.*220+5416A>T (n.*220+5416A>T)
c.32A>T (p.Asp11Val)
c.59A>T (p.Asp20Val)
c.914A>T (p.Asp305Val)
c.728A>T (p.Asp243Val)
c.647A>T (p.Asp216Val)
c.353A>T (p.Asp118Val)
c.734A>T (p.Asp245Val)
2g.48688808T>CCA1653100GTF2A1L,LHCGR,STON1-GTF2A1Lc.989A>G (p.Asp330Gly)
c.948-669A>G (n.948-669A>G)
c.3441+17128T>C (n.3441+17128T>C)
c.948-225A>G (n.948-225A>G)
c.908A>G (p.Asp303Gly)
c.276+17128T>C (n.276+17128T>C)
c.*220+5416A>G (n.*220+5416A>G)
c.32A>G (p.Asp11Gly)
c.59A>G (p.Asp20Gly)
c.914A>G (p.Asp305Gly)
c.728A>G (p.Asp243Gly)
c.647A>G (p.Asp216Gly)
c.353A>G (p.Asp118Gly)
c.734A>G (p.Asp245Gly)
 dbSNP ExAC gnomAD v2
2g.48688808T>GCA346750321GTF2A1L,LHCGR,STON1-GTF2A1Lc.989A>C (p.Asp330Ala)
c.948-669A>C (n.948-669A>C)
c.3441+17128T>G (n.3441+17128T>G)
c.948-225A>C (n.948-225A>C)
c.908A>C (p.Asp303Ala)
c.276+17128T>G (n.276+17128T>G)
c.*220+5416A>C (n.*220+5416A>C)
c.32A>C (p.Asp11Ala)
c.59A>C (p.Asp20Ala)
c.914A>C (p.Asp305Ala)
c.728A>C (p.Asp243Ala)
c.647A>C (p.Asp216Ala)
c.353A>C (p.Asp118Ala)
c.734A>C (p.Asp245Ala)
2g.48688808T=CA1248601281GTF2A1L,LHCGR,STON1-GTF2A1Lc.989A= (p.Asp330=)
c.948-669A= (n.948-669A=)
c.3441+17128T= (n.3441+17128T=)
c.948-225A= (n.948-225A=)
c.908A= (p.Asp303=)
c.276+17128T= (n.276+17128T=)
c.*220+5416A= (n.*220+5416A=)
c.32A= (p.Asp11=)
c.59A= (p.Asp20=)
c.914A= (p.Asp305=)
c.728A= (p.Asp243=)
c.647A= (p.Asp216=)
c.353A= (p.Asp118=)
c.734A= (p.Asp245=)
2g.48688809C>ACA346750324GTF2A1L,LHCGR,STON1-GTF2A1Lc.988G>T (p.Asp330Tyr)
c.948-670G>T (n.948-670G>T)
c.3441+17129C>A (n.3441+17129C>A)
c.948-226G>T (n.948-226G>T)
c.907G>T (p.Asp303Tyr)
c.276+17129C>A (n.276+17129C>A)
c.*220+5415G>T (n.*220+5415G>T)
c.31G>T (p.Asp11Tyr)
c.58G>T (p.Asp20Tyr)
c.913G>T (p.Asp305Tyr)
c.727G>T (p.Asp243Tyr)
c.646G>T (p.Asp216Tyr)
c.352G>T (p.Asp118Tyr)
c.733G>T (p.Asp245Tyr)
2g.48688809C>GCA346750326GTF2A1L,LHCGR,STON1-GTF2A1Lc.988G>C (p.Asp330His)
c.948-670G>C (n.948-670G>C)
c.3441+17129C>G (n.3441+17129C>G)
c.948-226G>C (n.948-226G>C)
c.907G>C (p.Asp303His)
c.276+17129C>G (n.276+17129C>G)
c.*220+5415G>C (n.*220+5415G>C)
c.31G>C (p.Asp11His)
c.58G>C (p.Asp20His)
c.913G>C (p.Asp305His)
c.727G>C (p.Asp243His)
c.646G>C (p.Asp216His)
c.352G>C (p.Asp118His)
c.733G>C (p.Asp245His)
2g.48688809C>TCA346750329GTF2A1L,LHCGR,STON1-GTF2A1Lc.988G>A (p.Asp330Asn)
c.948-670G>A (n.948-670G>A)
c.3441+17129C>T (n.3441+17129C>T)
c.948-226G>A (n.948-226G>A)
c.907G>A (p.Asp303Asn)
c.276+17129C>T (n.276+17129C>T)
c.*220+5415G>A (n.*220+5415G>A)
c.31G>A (p.Asp11Asn)
c.58G>A (p.Asp20Asn)
c.913G>A (p.Asp305Asn)
c.727G>A (p.Asp243Asn)
c.646G>A (p.Asp216Asn)
c.352G>A (p.Asp118Asn)
c.733G>A (p.Asp245Asn)
2g.48688810C>ACA346750332GTF2A1L,LHCGR,STON1-GTF2A1Lc.987G>T (p.Trp329Cys)
c.948-671G>T (n.948-671G>T)
c.3441+17130C>A (n.3441+17130C>A)
c.948-227G>T (n.948-227G>T)
c.906G>T (p.Trp302Cys)
c.276+17130C>A (n.276+17130C>A)
c.*220+5414G>T (n.*220+5414G>T)
c.30G>T (p.Trp10Cys)
c.57G>T (p.Trp19Cys)
c.912G>T (p.Trp304Cys)
c.726G>T (p.Trp242Cys)
c.645G>T (p.Trp215Cys)
c.351G>T (p.Trp117Cys)
c.732G>T (p.Trp244Cys)
2g.48688810C=CA1248601282GTF2A1L,LHCGR,STON1-GTF2A1Lc.987G= (p.Trp329=)
c.948-671G= (n.948-671G=)
c.3441+17130C= (n.3441+17130C=)
c.948-227G= (n.948-227G=)
c.906G= (p.Trp302=)
c.276+17130C= (n.276+17130C=)
c.*220+5414G= (n.*220+5414G=)
c.30G= (p.Trp10=)
c.57G= (p.Trp19=)
c.912G= (p.Trp304=)
c.726G= (p.Trp242=)
c.645G= (p.Trp215=)
c.351G= (p.Trp117=)
c.732G= (p.Trp244=)
2g.48688810C>GCA346750334GTF2A1L,LHCGR,STON1-GTF2A1Lc.987G>C (p.Trp329Cys)
c.948-671G>C (n.948-671G>C)
c.3441+17130C>G (n.3441+17130C>G)
c.948-227G>C (n.948-227G>C)
c.906G>C (p.Trp302Cys)
c.276+17130C>G (n.276+17130C>G)
c.*220+5414G>C (n.*220+5414G>C)
c.30G>C (p.Trp10Cys)
c.57G>C (p.Trp19Cys)
c.912G>C (p.Trp304Cys)
c.726G>C (p.Trp242Cys)
c.645G>C (p.Trp215Cys)
c.351G>C (p.Trp117Cys)
c.732G>C (p.Trp244Cys)
2g.48688810C>TCA346750336GTF2A1L,LHCGR,STON1-GTF2A1Lc.987G>A (p.Trp329Ter)
c.948-671G>A (n.948-671G>A)
c.3441+17130C>T (n.3441+17130C>T)
c.948-227G>A (n.948-227G>A)
c.906G>A (p.Trp302Ter)
c.276+17130C>T (n.276+17130C>T)
c.*220+5414G>A (n.*220+5414G>A)
c.30G>A (p.Trp10Ter)
c.57G>A (p.Trp19Ter)
c.912G>A (p.Trp304Ter)
c.726G>A (p.Trp242Ter)
c.645G>A (p.Trp215Ter)
c.351G>A (p.Trp117Ter)
c.732G>A (p.Trp244Ter)
 dbSNP gnomAD v3 gnomAD v4
2g.48688811C>ACA346750338GTF2A1L,LHCGR,STON1-GTF2A1Lc.986G>T (p.Trp329Leu)
c.948-672G>T (n.948-672G>T)
c.3441+17131C>A (n.3441+17131C>A)
c.948-228G>T (n.948-228G>T)
c.905G>T (p.Trp302Leu)
c.276+17131C>A (n.276+17131C>A)
c.*220+5413G>T (n.*220+5413G>T)
c.29G>T (p.Trp10Leu)
c.56G>T (p.Trp19Leu)
c.911G>T (p.Trp304Leu)
c.725G>T (p.Trp242Leu)
c.644G>T (p.Trp215Leu)
c.350G>T (p.Trp117Leu)
c.731G>T (p.Trp244Leu)
2g.48688811C>GCA346750341GTF2A1L,LHCGR,STON1-GTF2A1Lc.986G>C (p.Trp329Ser)
c.948-672G>C (n.948-672G>C)
c.3441+17131C>G (n.3441+17131C>G)
c.948-228G>C (n.948-228G>C)
c.905G>C (p.Trp302Ser)
c.276+17131C>G (n.276+17131C>G)
c.*220+5413G>C (n.*220+5413G>C)
c.29G>C (p.Trp10Ser)
c.56G>C (p.Trp19Ser)
c.911G>C (p.Trp304Ser)
c.725G>C (p.Trp242Ser)
c.644G>C (p.Trp215Ser)
c.350G>C (p.Trp117Ser)
c.731G>C (p.Trp244Ser)
2g.48688811C>TCA346750343GTF2A1L,LHCGR,STON1-GTF2A1Lc.986G>A (p.Trp329Ter)
c.948-672G>A (n.948-672G>A)
c.3441+17131C>T (n.3441+17131C>T)
c.948-228G>A (n.948-228G>A)
c.905G>A (p.Trp302Ter)
c.276+17131C>T (n.276+17131C>T)
c.*220+5413G>A (n.*220+5413G>A)
c.29G>A (p.Trp10Ter)
c.56G>A (p.Trp19Ter)
c.911G>A (p.Trp304Ter)
c.725G>A (p.Trp242Ter)
c.644G>A (p.Trp215Ter)
c.350G>A (p.Trp117Ter)
c.731G>A (p.Trp244Ter)
 gnomAD v4
2g.48688812A>CCA346750344GTF2A1L,LHCGR,STON1-GTF2A1Lc.985T>G (p.Trp329Gly)
c.948-673T>G (n.948-673T>G)
c.3441+17132A>C (n.3441+17132A>C)
c.948-229T>G (n.948-229T>G)
c.904T>G (p.Trp302Gly)
c.276+17132A>C (n.276+17132A>C)
c.*220+5412T>G (n.*220+5412T>G)
c.28T>G (p.Trp10Gly)
c.55T>G (p.Trp19Gly)
c.910T>G (p.Trp304Gly)
c.724T>G (p.Trp242Gly)
c.643T>G (p.Trp215Gly)
c.349T>G (p.Trp117Gly)
c.730T>G (p.Trp244Gly)
2g.48688812A>GCA346750347GTF2A1L,LHCGR,STON1-GTF2A1Lc.985T>C (p.Trp329Arg)
c.948-673T>C (n.948-673T>C)
c.3441+17132A>G (n.3441+17132A>G)
c.948-229T>C (n.948-229T>C)
c.904T>C (p.Trp302Arg)
c.276+17132A>G (n.276+17132A>G)
c.*220+5412T>C (n.*220+5412T>C)
c.28T>C (p.Trp10Arg)
c.55T>C (p.Trp19Arg)
c.910T>C (p.Trp304Arg)
c.724T>C (p.Trp242Arg)
c.643T>C (p.Trp215Arg)
c.349T>C (p.Trp117Arg)
c.730T>C (p.Trp244Arg)
2g.48688812A>TCA346750346GTF2A1L,LHCGR,STON1-GTF2A1Lc.985T>A (p.Trp329Arg)
c.948-673T>A (n.948-673T>A)
c.3441+17132A>T (n.3441+17132A>T)
c.948-229T>A (n.948-229T>A)
c.904T>A (p.Trp302Arg)
c.276+17132A>T (n.276+17132A>T)
c.*220+5412T>A (n.*220+5412T>A)
c.28T>A (p.Trp10Arg)
c.55T>A (p.Trp19Arg)
c.910T>A (p.Trp304Arg)
c.724T>A (p.Trp242Arg)
c.643T>A (p.Trp215Arg)
c.349T>A (p.Trp117Arg)
c.730T>A (p.Trp244Arg)
2g.48688813G>ACA426124862GTF2A1L,LHCGR,STON1-GTF2A1Lc.984C>T (p.Gly328=)
c.948-674C>T (n.948-674C>T)
c.3441+17133G>A (n.3441+17133G>A)
c.948-230C>T (n.948-230C>T)
c.903C>T (p.Gly301=)
c.276+17133G>A (n.276+17133G>A)
c.*220+5411C>T (n.*220+5411C>T)
c.27C>T (p.Gly9=)
c.54C>T (p.Gly18=)
c.909C>T (p.Gly303=)
c.723C>T (p.Gly241=)
c.642C>T (p.Gly214=)
c.348C>T (p.Gly116=)
c.729C>T (p.Gly243=)
2g.48688813G>CCA426124863GTF2A1L,LHCGR,STON1-GTF2A1Lc.984C>G (p.Gly328=)
c.948-674C>G (n.948-674C>G)
c.3441+17133G>C (n.3441+17133G>C)
c.948-230C>G (n.948-230C>G)
c.903C>G (p.Gly301=)
c.276+17133G>C (n.276+17133G>C)
c.*220+5411C>G (n.*220+5411C>G)
c.27C>G (p.Gly9=)
c.54C>G (p.Gly18=)
c.909C>G (p.Gly303=)
c.723C>G (p.Gly241=)
c.642C>G (p.Gly214=)
c.348C>G (p.Gly116=)
c.729C>G (p.Gly243=)
 dbSNP gnomAD v2 gnomAD v4
2g.48688813G=CA1248601283GTF2A1L,LHCGR,STON1-GTF2A1Lc.984C= (p.Gly328=)
c.948-674C= (n.948-674C=)
c.3441+17133G= (n.3441+17133G=)
c.948-230C= (n.948-230C=)
c.903C= (p.Gly301=)
c.276+17133G= (n.276+17133G=)
c.*220+5411C= (n.*220+5411C=)
c.27C= (p.Gly9=)
c.54C= (p.Gly18=)
c.909C= (p.Gly303=)
c.723C= (p.Gly241=)
c.642C= (p.Gly214=)
c.348C= (p.Gly116=)
c.729C= (p.Gly243=)
2g.48688813G>TCA426124864GTF2A1L,LHCGR,STON1-GTF2A1Lc.984C>A (p.Gly328=)
c.948-674C>A (n.948-674C>A)
c.3441+17133G>T (n.3441+17133G>T)
c.948-230C>A (n.948-230C>A)
c.903C>A (p.Gly301=)
c.276+17133G>T (n.276+17133G>T)
c.*220+5411C>A (n.*220+5411C>A)
c.27C>A (p.Gly9=)
c.54C>A (p.Gly18=)
c.909C>A (p.Gly303=)
c.723C>A (p.Gly241=)
c.642C>A (p.Gly214=)
c.348C>A (p.Gly116=)
c.729C>A (p.Gly243=)
 dbSNP gnomAD v2 gnomAD v4
2g.48688814C>ACA346750350GTF2A1L,LHCGR,STON1-GTF2A1Lc.983G>T (p.Gly328Val)
c.948-675G>T (n.948-675G>T)
c.3441+17134C>A (n.3441+17134C>A)
c.948-231G>T (n.948-231G>T)
c.902G>T (p.Gly301Val)
c.276+17134C>A (n.276+17134C>A)
c.*220+5410G>T (n.*220+5410G>T)
c.26G>T (p.Gly9Val)
c.53G>T (p.Gly18Val)
c.908G>T (p.Gly303Val)
c.722G>T (p.Gly241Val)
c.641G>T (p.Gly214Val)
c.347G>T (p.Gly116Val)
c.728G>T (p.Gly243Val)
2g.48688814C=CA1248601284GTF2A1L,LHCGR,STON1-GTF2A1Lc.983G= (p.Gly328=)
c.948-675G= (n.948-675G=)
c.3441+17134C= (n.3441+17134C=)
c.948-231G= (n.948-231G=)
c.902G= (p.Gly301=)
c.276+17134C= (n.276+17134C=)
c.*220+5410G= (n.*220+5410G=)
c.26G= (p.Gly9=)
c.53G= (p.Gly18=)
c.908G= (p.Gly303=)
c.722G= (p.Gly241=)
c.641G= (p.Gly214=)
c.347G= (p.Gly116=)
c.728G= (p.Gly243=)
2g.48688814C>GCA346750355GTF2A1L,LHCGR,STON1-GTF2A1Lc.983G>C (p.Gly328Ala)
c.948-675G>C (n.948-675G>C)
c.3441+17134C>G (n.3441+17134C>G)
c.948-231G>C (n.948-231G>C)
c.902G>C (p.Gly301Ala)
c.276+17134C>G (n.276+17134C>G)
c.*220+5410G>C (n.*220+5410G>C)
c.26G>C (p.Gly9Ala)
c.53G>C (p.Gly18Ala)
c.908G>C (p.Gly303Ala)
c.722G>C (p.Gly241Ala)
c.641G>C (p.Gly214Ala)
c.347G>C (p.Gly116Ala)
c.728G>C (p.Gly243Ala)
2g.48688814C>TCA346750352GTF2A1L,LHCGR,STON1-GTF2A1Lc.983G>A (p.Gly328Asp)
c.948-675G>A (n.948-675G>A)
c.3441+17134C>T (n.3441+17134C>T)
c.948-231G>A (n.948-231G>A)
c.902G>A (p.Gly301Asp)
c.276+17134C>T (n.276+17134C>T)
c.*220+5410G>A (n.*220+5410G>A)
c.26G>A (p.Gly9Asp)
c.53G>A (p.Gly18Asp)
c.908G>A (p.Gly303Asp)
c.722G>A (p.Gly241Asp)
c.641G>A (p.Gly214Asp)
c.347G>A (p.Gly116Asp)
c.728G>A (p.Gly243Asp)
 dbSNP
2g.48688815C>ACA346750358GTF2A1L,LHCGR,STON1-GTF2A1Lc.982G>T (p.Gly328Cys)
c.948-676G>T (n.948-676G>T)
c.3441+17135C>A (n.3441+17135C>A)
c.948-232G>T (n.948-232G>T)
c.901G>T (p.Gly301Cys)
c.276+17135C>A (n.276+17135C>A)
c.*220+5409G>T (n.*220+5409G>T)
c.25G>T (p.Gly9Cys)
c.52G>T (p.Gly18Cys)
c.907G>T (p.Gly303Cys)
c.721G>T (p.Gly241Cys)
c.640G>T (p.Gly214Cys)
c.346G>T (p.Gly116Cys)
c.727G>T (p.Gly243Cys)
2g.48688815C=CA1248601285GTF2A1L,LHCGR,STON1-GTF2A1Lc.982G= (p.Gly328=)
c.948-676G= (n.948-676G=)
c.3441+17135C= (n.3441+17135C=)
c.948-232G= (n.948-232G=)
c.901G= (p.Gly301=)
c.276+17135C= (n.276+17135C=)
c.*220+5409G= (n.*220+5409G=)
c.25G= (p.Gly9=)
c.52G= (p.Gly18=)
c.907G= (p.Gly303=)
c.721G= (p.Gly241=)
c.640G= (p.Gly214=)
c.346G= (p.Gly116=)
c.727G= (p.Gly243=)
2g.48688815C>GCA1653101GTF2A1L,LHCGR,STON1-GTF2A1Lc.982G>C (p.Gly328Arg)
c.948-676G>C (n.948-676G>C)
c.3441+17135C>G (n.3441+17135C>G)
c.948-232G>C (n.948-232G>C)
c.901G>C (p.Gly301Arg)
c.276+17135C>G (n.276+17135C>G)
c.*220+5409G>C (n.*220+5409G>C)
c.25G>C (p.Gly9Arg)
c.52G>C (p.Gly18Arg)
c.907G>C (p.Gly303Arg)
c.721G>C (p.Gly241Arg)
c.640G>C (p.Gly214Arg)
c.346G>C (p.Gly116Arg)
c.727G>C (p.Gly243Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688815C>TCA346750360GTF2A1L,LHCGR,STON1-GTF2A1Lc.982G>A (p.Gly328Ser)
c.948-676G>A (n.948-676G>A)
c.3441+17135C>T (n.3441+17135C>T)
c.948-232G>A (n.948-232G>A)
c.901G>A (p.Gly301Ser)
c.276+17135C>T (n.276+17135C>T)
c.*220+5409G>A (n.*220+5409G>A)
c.25G>A (p.Gly9Ser)
c.52G>A (p.Gly18Ser)
c.907G>A (p.Gly303Ser)
c.721G>A (p.Gly241Ser)
c.640G>A (p.Gly214Ser)
c.346G>A (p.Gly116Ser)
c.727G>A (p.Gly243Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688816A=CA1248601286GTF2A1L,LHCGR,STON1-GTF2A1Lc.981T= (p.Ser327=)
c.948-677T= (n.948-677T=)
c.3441+17136A= (n.3441+17136A=)
c.948-233T= (n.948-233T=)
c.900T= (p.Ser300=)
c.276+17136A= (n.276+17136A=)
c.*220+5408T= (n.*220+5408T=)
c.24T= (p.Ser8=)
c.51T= (p.Ser17=)
c.906T= (p.Ser302=)
c.720T= (p.Ser240=)
c.639T= (p.Ser213=)
c.345T= (p.Ser115=)
c.726T= (p.Ser242=)
2g.48688816A>CCA346750365GTF2A1L,LHCGR,STON1-GTF2A1Lc.981T>G (p.Ser327Arg)
c.948-677T>G (n.948-677T>G)
c.3441+17136A>C (n.3441+17136A>C)
c.948-233T>G (n.948-233T>G)
c.900T>G (p.Ser300Arg)
c.276+17136A>C (n.276+17136A>C)
c.*220+5408T>G (n.*220+5408T>G)
c.24T>G (p.Ser8Arg)
c.51T>G (p.Ser17Arg)
c.906T>G (p.Ser302Arg)
c.720T>G (p.Ser240Arg)
c.639T>G (p.Ser213Arg)
c.345T>G (p.Ser115Arg)
c.726T>G (p.Ser242Arg)
2g.48688816A>GCA1653102GTF2A1L,LHCGR,STON1-GTF2A1Lc.981T>C (p.Ser327=)
c.948-677T>C (n.948-677T>C)
c.3441+17136A>G (n.3441+17136A>G)
c.948-233T>C (n.948-233T>C)
c.900T>C (p.Ser300=)
c.276+17136A>G (n.276+17136A>G)
c.*220+5408T>C (n.*220+5408T>C)
c.24T>C (p.Ser8=)
c.51T>C (p.Ser17=)
c.906T>C (p.Ser302=)
c.720T>C (p.Ser240=)
c.639T>C (p.Ser213=)
c.345T>C (p.Ser115=)
c.726T>C (p.Ser242=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688816A>TCA346750370GTF2A1L,LHCGR,STON1-GTF2A1Lc.981T>A (p.Ser327Arg)
c.948-677T>A (n.948-677T>A)
c.3441+17136A>T (n.3441+17136A>T)
c.948-233T>A (n.948-233T>A)
c.900T>A (p.Ser300Arg)
c.276+17136A>T (n.276+17136A>T)
c.*220+5408T>A (n.*220+5408T>A)
c.24T>A (p.Ser8Arg)
c.51T>A (p.Ser17Arg)
c.906T>A (p.Ser302Arg)
c.720T>A (p.Ser240Arg)
c.639T>A (p.Ser213Arg)
c.345T>A (p.Ser115Arg)
c.726T>A (p.Ser242Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.48688817C>ACA346750372GTF2A1L,LHCGR,STON1-GTF2A1Lc.980G>T (p.Ser327Ile)
c.948-678G>T (n.948-678G>T)
c.3441+17137C>A (n.3441+17137C>A)
c.948-234G>T (n.948-234G>T)
c.899G>T (p.Ser300Ile)
c.276+17137C>A (n.276+17137C>A)
c.*220+5407G>T (n.*220+5407G>T)
c.23G>T (p.Ser8Ile)
c.50G>T (p.Ser17Ile)
c.905G>T (p.Ser302Ile)
c.719G>T (p.Ser240Ile)
c.638G>T (p.Ser213Ile)
c.344G>T (p.Ser115Ile)
c.725G>T (p.Ser242Ile)
2g.48688817C>GCA346750374GTF2A1L,LHCGR,STON1-GTF2A1Lc.980G>C (p.Ser327Thr)
c.948-678G>C (n.948-678G>C)
c.3441+17137C>G (n.3441+17137C>G)
c.948-234G>C (n.948-234G>C)
c.899G>C (p.Ser300Thr)
c.276+17137C>G (n.276+17137C>G)
c.*220+5407G>C (n.*220+5407G>C)
c.23G>C (p.Ser8Thr)
c.50G>C (p.Ser17Thr)
c.905G>C (p.Ser302Thr)
c.719G>C (p.Ser240Thr)
c.638G>C (p.Ser213Thr)
c.344G>C (p.Ser115Thr)
c.725G>C (p.Ser242Thr)
2g.48688817C>TCA346750377GTF2A1L,LHCGR,STON1-GTF2A1Lc.980G>A (p.Ser327Asn)
c.948-678G>A (n.948-678G>A)
c.3441+17137C>T (n.3441+17137C>T)
c.948-234G>A (n.948-234G>A)
c.899G>A (p.Ser300Asn)
c.276+17137C>T (n.276+17137C>T)
c.*220+5407G>A (n.*220+5407G>A)
c.23G>A (p.Ser8Asn)
c.50G>A (p.Ser17Asn)
c.905G>A (p.Ser302Asn)
c.719G>A (p.Ser240Asn)
c.638G>A (p.Ser213Asn)
c.344G>A (p.Ser115Asn)
c.725G>A (p.Ser242Asn)
2g.48688818T>ACA346750380GTF2A1L,LHCGR,STON1-GTF2A1Lc.979A>T (p.Ser327Cys)
c.948-679A>T (n.948-679A>T)
c.3441+17138T>A (n.3441+17138T>A)
c.948-235A>T (n.948-235A>T)
c.898A>T (p.Ser300Cys)
c.276+17138T>A (n.276+17138T>A)
c.*220+5406A>T (n.*220+5406A>T)
c.22A>T (p.Ser8Cys)
c.49A>T (p.Ser17Cys)
c.904A>T (p.Ser302Cys)
c.718A>T (p.Ser240Cys)
c.637A>T (p.Ser213Cys)
c.343A>T (p.Ser115Cys)
c.724A>T (p.Ser242Cys)
2g.48688818T>CCA346750382GTF2A1L,LHCGR,STON1-GTF2A1Lc.979A>G (p.Ser327Gly)
c.948-679A>G (n.948-679A>G)
c.3441+17138T>C (n.3441+17138T>C)
c.948-235A>G (n.948-235A>G)
c.898A>G (p.Ser300Gly)
c.276+17138T>C (n.276+17138T>C)
c.*220+5406A>G (n.*220+5406A>G)
c.22A>G (p.Ser8Gly)
c.49A>G (p.Ser17Gly)
c.904A>G (p.Ser302Gly)
c.718A>G (p.Ser240Gly)
c.637A>G (p.Ser213Gly)
c.343A>G (p.Ser115Gly)
c.724A>G (p.Ser242Gly)
2g.48688818T>GCA346750384GTF2A1L,LHCGR,STON1-GTF2A1Lc.979A>C (p.Ser327Arg)
c.948-679A>C (n.948-679A>C)
c.3441+17138T>G (n.3441+17138T>G)
c.948-235A>C (n.948-235A>C)
c.898A>C (p.Ser300Arg)
c.276+17138T>G (n.276+17138T>G)
c.*220+5406A>C (n.*220+5406A>C)
c.22A>C (p.Ser8Arg)
c.49A>C (p.Ser17Arg)
c.904A>C (p.Ser302Arg)
c.718A>C (p.Ser240Arg)
c.637A>C (p.Ser213Arg)
c.343A>C (p.Ser115Arg)
c.724A>C (p.Ser242Arg)
2g.48688819C>ACA426124866GTF2A1L,LHCGR,STON1-GTF2A1Lc.978G>T (p.Leu326=)
c.948-680G>T (n.948-680G>T)
c.3441+17139C>A (n.3441+17139C>A)
c.948-236G>T (n.948-236G>T)
c.897G>T (p.Leu299=)
c.276+17139C>A (n.276+17139C>A)
c.*220+5405G>T (n.*220+5405G>T)
c.21G>T (p.Leu7=)
c.48G>T (p.Leu16=)
c.903G>T (p.Leu301=)
c.717G>T (p.Leu239=)
c.636G>T (p.Leu212=)
c.342G>T (p.Leu114=)
c.723G>T (p.Leu241=)
2g.48688819C=CA1248601287GTF2A1L,LHCGR,STON1-GTF2A1Lc.978G= (p.Leu326=)
c.948-680G= (n.948-680G=)
c.3441+17139C= (n.3441+17139C=)
c.948-236G= (n.948-236G=)
c.897G= (p.Leu299=)
c.276+17139C= (n.276+17139C=)
c.*220+5405G= (n.*220+5405G=)
c.21G= (p.Leu7=)
c.48G= (p.Leu16=)
c.903G= (p.Leu301=)
c.717G= (p.Leu239=)
c.636G= (p.Leu212=)
c.342G= (p.Leu114=)
c.723G= (p.Leu241=)
2g.48688819C>GCA1653103GTF2A1L,LHCGR,STON1-GTF2A1Lc.978G>C (p.Leu326=)
c.948-680G>C (n.948-680G>C)
c.3441+17139C>G (n.3441+17139C>G)
c.948-236G>C (n.948-236G>C)
c.897G>C (p.Leu299=)
c.276+17139C>G (n.276+17139C>G)
c.*220+5405G>C (n.*220+5405G>C)
c.21G>C (p.Leu7=)
c.48G>C (p.Leu16=)
c.903G>C (p.Leu301=)
c.717G>C (p.Leu239=)
c.636G>C (p.Leu212=)
c.342G>C (p.Leu114=)
c.723G>C (p.Leu241=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688819C>TCA426124865GTF2A1L,LHCGR,STON1-GTF2A1Lc.978G>A (p.Leu326=)
c.948-680G>A (n.948-680G>A)
c.3441+17139C>T (n.3441+17139C>T)
c.948-236G>A (n.948-236G>A)
c.897G>A (p.Leu299=)
c.276+17139C>T (n.276+17139C>T)
c.*220+5405G>A (n.*220+5405G>A)
c.21G>A (p.Leu7=)
c.48G>A (p.Leu16=)
c.903G>A (p.Leu301=)
c.717G>A (p.Leu239=)
c.636G>A (p.Leu212=)
c.342G>A (p.Leu114=)
c.723G>A (p.Leu241=)
2g.48688820A=CA1248601288GTF2A1L,LHCGR,STON1-GTF2A1Lc.977T= (p.Leu326=)
c.948-681T= (n.948-681T=)
c.3441+17140A= (n.3441+17140A=)
c.948-237T= (n.948-237T=)
c.896T= (p.Leu299=)
c.276+17140A= (n.276+17140A=)
c.*220+5404T= (n.*220+5404T=)
c.20T= (p.Leu7=)
c.47T= (p.Leu16=)
c.902T= (p.Leu301=)
c.716T= (p.Leu239=)
c.635T= (p.Leu212=)
c.341T= (p.Leu114=)
c.722T= (p.Leu241=)
2g.48688820A>CCA346750387GTF2A1L,LHCGR,STON1-GTF2A1Lc.977T>G (p.Leu326Arg)
c.948-681T>G (n.948-681T>G)
c.3441+17140A>C (n.3441+17140A>C)
c.948-237T>G (n.948-237T>G)
c.896T>G (p.Leu299Arg)
c.276+17140A>C (n.276+17140A>C)
c.*220+5404T>G (n.*220+5404T>G)
c.20T>G (p.Leu7Arg)
c.47T>G (p.Leu16Arg)
c.902T>G (p.Leu301Arg)
c.716T>G (p.Leu239Arg)
c.635T>G (p.Leu212Arg)
c.341T>G (p.Leu114Arg)
c.722T>G (p.Leu241Arg)
2g.48688820A>GCA346750389GTF2A1L,LHCGR,STON1-GTF2A1Lc.977T>C (p.Leu326Pro)
c.948-681T>C (n.948-681T>C)
c.3441+17140A>G (n.3441+17140A>G)
c.948-237T>C (n.948-237T>C)
c.896T>C (p.Leu299Pro)
c.276+17140A>G (n.276+17140A>G)
c.*220+5404T>C (n.*220+5404T>C)
c.20T>C (p.Leu7Pro)
c.47T>C (p.Leu16Pro)
c.902T>C (p.Leu301Pro)
c.716T>C (p.Leu239Pro)
c.635T>C (p.Leu212Pro)
c.341T>C (p.Leu114Pro)
c.722T>C (p.Leu241Pro)
2g.48688820A>TCA46753482GTF2A1L,LHCGR,STON1-GTF2A1Lc.977T>A (p.Leu326Gln)
c.948-681T>A (n.948-681T>A)
c.3441+17140A>T (n.3441+17140A>T)
c.948-237T>A (n.948-237T>A)
c.896T>A (p.Leu299Gln)
c.276+17140A>T (n.276+17140A>T)
c.*220+5404T>A (n.*220+5404T>A)
c.20T>A (p.Leu7Gln)
c.47T>A (p.Leu16Gln)
c.902T>A (p.Leu301Gln)
c.716T>A (p.Leu239Gln)
c.635T>A (p.Leu212Gln)
c.341T>A (p.Leu114Gln)
c.722T>A (p.Leu241Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.48688821G>ACA426124867GTF2A1L,LHCGR,STON1-GTF2A1Lc.976C>T (p.Leu326=)
c.948-682C>T (n.948-682C>T)
c.3441+17141G>A (n.3441+17141G>A)
c.948-238C>T (n.948-238C>T)
c.895C>T (p.Leu299=)
c.276+17141G>A (n.276+17141G>A)
c.*220+5403C>T (n.*220+5403C>T)
c.19C>T (p.Leu7=)
c.46C>T (p.Leu16=)
c.901C>T (p.Leu301=)
c.715C>T (p.Leu239=)
c.634C>T (p.Leu212=)
c.340C>T (p.Leu114=)
c.721C>T (p.Leu241=)
2g.48688821G>CCA346750391GTF2A1L,LHCGR,STON1-GTF2A1Lc.976C>G (p.Leu326Val)
c.948-682C>G (n.948-682C>G)
c.3441+17141G>C (n.3441+17141G>C)
c.948-238C>G (n.948-238C>G)
c.895C>G (p.Leu299Val)
c.276+17141G>C (n.276+17141G>C)
c.*220+5403C>G (n.*220+5403C>G)
c.19C>G (p.Leu7Val)
c.46C>G (p.Leu16Val)
c.901C>G (p.Leu301Val)
c.715C>G (p.Leu239Val)
c.634C>G (p.Leu212Val)
c.340C>G (p.Leu114Val)
c.721C>G (p.Leu241Val)
 gnomAD v4
2g.48688821G>TCA346750392GTF2A1L,LHCGR,STON1-GTF2A1Lc.976C>A (p.Leu326Met)
c.948-682C>A (n.948-682C>A)
c.3441+17141G>T (n.3441+17141G>T)
c.948-238C>A (n.948-238C>A)
c.895C>A (p.Leu299Met)
c.276+17141G>T (n.276+17141G>T)
c.*220+5403C>A (n.*220+5403C>A)
c.19C>A (p.Leu7Met)
c.46C>A (p.Leu16Met)
c.901C>A (p.Leu301Met)
c.715C>A (p.Leu239Met)
c.634C>A (p.Leu212Met)
c.340C>A (p.Leu114Met)
c.721C>A (p.Leu241Met)
2g.48688822T>ACA346750394GTF2A1L,LHCGR,STON1-GTF2A1Lc.975A>T (p.Glu325Asp)
c.948-683A>T (n.948-683A>T)
c.3441+17142T>A (n.3441+17142T>A)
c.948-239A>T (n.948-239A>T)
c.894A>T (p.Glu298Asp)
c.276+17142T>A (n.276+17142T>A)
c.*220+5402A>T (n.*220+5402A>T)
c.18A>T (p.Glu6Asp)
c.45A>T (p.Glu15Asp)
c.900A>T (p.Glu300Asp)
c.714A>T (p.Glu238Asp)
c.633A>T (p.Glu211Asp)
c.339A>T (p.Glu113Asp)
c.720A>T (p.Glu240Asp)
2g.48688822T>CCA426124868GTF2A1L,LHCGR,STON1-GTF2A1Lc.975A>G (p.Glu325=)
c.948-683A>G (n.948-683A>G)
c.3441+17142T>C (n.3441+17142T>C)
c.948-239A>G (n.948-239A>G)
c.894A>G (p.Glu298=)
c.276+17142T>C (n.276+17142T>C)
c.*220+5402A>G (n.*220+5402A>G)
c.18A>G (p.Glu6=)
c.45A>G (p.Glu15=)
c.900A>G (p.Glu300=)
c.714A>G (p.Glu238=)
c.633A>G (p.Glu211=)
c.339A>G (p.Glu113=)
c.720A>G (p.Glu240=)
 gnomAD v4
2g.48688822T>GCA346750396GTF2A1L,LHCGR,STON1-GTF2A1Lc.975A>C (p.Glu325Asp)
c.948-683A>C (n.948-683A>C)
c.3441+17142T>G (n.3441+17142T>G)
c.948-239A>C (n.948-239A>C)
c.894A>C (p.Glu298Asp)
c.276+17142T>G (n.276+17142T>G)
c.*220+5402A>C (n.*220+5402A>C)
c.18A>C (p.Glu6Asp)
c.45A>C (p.Glu15Asp)
c.900A>C (p.Glu300Asp)
c.714A>C (p.Glu238Asp)
c.633A>C (p.Glu211Asp)
c.339A>C (p.Glu113Asp)
c.720A>C (p.Glu240Asp)
2g.48688823T>ACA346750398GTF2A1L,LHCGR,STON1-GTF2A1Lc.974A>T (p.Glu325Val)
c.948-684A>T (n.948-684A>T)
c.3441+17143T>A (n.3441+17143T>A)
c.948-240A>T (n.948-240A>T)
c.893A>T (p.Glu298Val)
c.276+17143T>A (n.276+17143T>A)
c.*220+5401A>T (n.*220+5401A>T)
c.17A>T (p.Glu6Val)
c.44A>T (p.Glu15Val)
c.899A>T (p.Glu300Val)
c.713A>T (p.Glu238Val)
c.632A>T (p.Glu211Val)
c.338A>T (p.Glu113Val)
c.719A>T (p.Glu240Val)
2g.48688823T>CCA346750400GTF2A1L,LHCGR,STON1-GTF2A1Lc.974A>G (p.Glu325Gly)
c.948-684A>G (n.948-684A>G)
c.3441+17143T>C (n.3441+17143T>C)
c.948-240A>G (n.948-240A>G)
c.893A>G (p.Glu298Gly)
c.276+17143T>C (n.276+17143T>C)
c.*220+5401A>G (n.*220+5401A>G)
c.17A>G (p.Glu6Gly)
c.44A>G (p.Glu15Gly)
c.899A>G (p.Glu300Gly)
c.713A>G (p.Glu238Gly)
c.632A>G (p.Glu211Gly)
c.338A>G (p.Glu113Gly)
c.719A>G (p.Glu240Gly)
2g.48688823T>GCA346750403GTF2A1L,LHCGR,STON1-GTF2A1Lc.974A>C (p.Glu325Ala)
c.948-684A>C (n.948-684A>C)
c.3441+17143T>G (n.3441+17143T>G)
c.948-240A>C (n.948-240A>C)
c.893A>C (p.Glu298Ala)
c.276+17143T>G (n.276+17143T>G)
c.*220+5401A>C (n.*220+5401A>C)
c.17A>C (p.Glu6Ala)
c.44A>C (p.Glu15Ala)
c.899A>C (p.Glu300Ala)
c.713A>C (p.Glu238Ala)
c.632A>C (p.Glu211Ala)
c.338A>C (p.Glu113Ala)
c.719A>C (p.Glu240Ala)
 gnomAD v4
2g.48688824C>ACA346750406GTF2A1L,LHCGR,STON1-GTF2A1Lc.973G>T (p.Glu325Ter)
c.948-685G>T (n.948-685G>T)
c.3441+17144C>A (n.3441+17144C>A)
c.948-241G>T (n.948-241G>T)
c.892G>T (p.Glu298Ter)
c.276+17144C>A (n.276+17144C>A)
c.*220+5400G>T (n.*220+5400G>T)
c.16G>T (p.Glu6Ter)
c.43G>T (p.Glu15Ter)
c.898G>T (p.Glu300Ter)
c.712G>T (p.Glu238Ter)
c.631G>T (p.Glu211Ter)
c.337G>T (p.Glu113Ter)
c.718G>T (p.Glu240Ter)
2g.48688824C>GCA346750408GTF2A1L,LHCGR,STON1-GTF2A1Lc.973G>C (p.Glu325Gln)
c.948-685G>C (n.948-685G>C)
c.3441+17144C>G (n.3441+17144C>G)
c.948-241G>C (n.948-241G>C)
c.892G>C (p.Glu298Gln)
c.276+17144C>G (n.276+17144C>G)
c.*220+5400G>C (n.*220+5400G>C)
c.16G>C (p.Glu6Gln)
c.43G>C (p.Glu15Gln)
c.898G>C (p.Glu300Gln)
c.712G>C (p.Glu238Gln)
c.631G>C (p.Glu211Gln)
c.337G>C (p.Glu113Gln)
c.718G>C (p.Glu240Gln)
 gnomAD v4
2g.48688824C>TCA346750410GTF2A1L,LHCGR,STON1-GTF2A1Lc.973G>A (p.Glu325Lys)
c.948-685G>A (n.948-685G>A)
c.3441+17144C>T (n.3441+17144C>T)
c.948-241G>A (n.948-241G>A)
c.892G>A (p.Glu298Lys)
c.276+17144C>T (n.276+17144C>T)
c.*220+5400G>A (n.*220+5400G>A)
c.16G>A (p.Glu6Lys)
c.43G>A (p.Glu15Lys)
c.898G>A (p.Glu300Lys)
c.712G>A (p.Glu238Lys)
c.631G>A (p.Glu211Lys)
c.337G>A (p.Glu113Lys)
c.718G>A (p.Glu240Lys)
 COSMIC
2g.48688825A>CCA346750413GTF2A1L,LHCGR,STON1-GTF2A1Lc.972T>G (p.Ser324Arg)
c.948-686T>G (n.948-686T>G)
c.3441+17145A>C (n.3441+17145A>C)
c.948-242T>G (n.948-242T>G)
c.891T>G (p.Ser297Arg)
c.276+17145A>C (n.276+17145A>C)
c.*220+5399T>G (n.*220+5399T>G)
c.15T>G (p.Ser5Arg)
c.42T>G (p.Ser14Arg)
c.897T>G (p.Ser299Arg)
c.711T>G (p.Ser237Arg)
c.630T>G (p.Ser210Arg)
c.336T>G (p.Ser112Arg)
c.717T>G (p.Ser239Arg)
 gnomAD v4
2g.48688825A>GCA426124869GTF2A1L,LHCGR,STON1-GTF2A1Lc.972T>C (p.Ser324=)
c.948-686T>C (n.948-686T>C)
c.3441+17145A>G (n.3441+17145A>G)
c.948-242T>C (n.948-242T>C)
c.891T>C (p.Ser297=)
c.276+17145A>G (n.276+17145A>G)
c.*220+5399T>C (n.*220+5399T>C)
c.15T>C (p.Ser5=)
c.42T>C (p.Ser14=)
c.897T>C (p.Ser299=)
c.711T>C (p.Ser237=)
c.630T>C (p.Ser210=)
c.336T>C (p.Ser112=)
c.717T>C (p.Ser239=)
2g.48688825A>TCA346750417GTF2A1L,LHCGR,STON1-GTF2A1Lc.972T>A (p.Ser324Arg)
c.948-686T>A (n.948-686T>A)
c.3441+17145A>T (n.3441+17145A>T)
c.948-242T>A (n.948-242T>A)
c.891T>A (p.Ser297Arg)
c.276+17145A>T (n.276+17145A>T)
c.*220+5399T>A (n.*220+5399T>A)
c.15T>A (p.Ser5Arg)
c.42T>A (p.Ser14Arg)
c.897T>A (p.Ser299Arg)
c.711T>A (p.Ser237Arg)
c.630T>A (p.Ser210Arg)
c.336T>A (p.Ser112Arg)
c.717T>A (p.Ser239Arg)
2g.48688826C>ACA1653104GTF2A1L,LHCGR,STON1-GTF2A1Lc.971G>T (p.Ser324Ile)
c.948-687G>T (n.948-687G>T)
c.3441+17146C>A (n.3441+17146C>A)
c.948-243G>T (n.948-243G>T)
c.890G>T (p.Ser297Ile)
c.276+17146C>A (n.276+17146C>A)
c.*220+5398G>T (n.*220+5398G>T)
c.14G>T (p.Ser5Ile)
c.41G>T (p.Ser14Ile)
c.896G>T (p.Ser299Ile)
c.710G>T (p.Ser237Ile)
c.629G>T (p.Ser210Ile)
c.335G>T (p.Ser112Ile)
c.716G>T (p.Ser239Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688826C=CA1248601289GTF2A1L,LHCGR,STON1-GTF2A1Lc.971G= (p.Ser324=)
c.948-687G= (n.948-687G=)
c.3441+17146C= (n.3441+17146C=)
c.948-243G= (n.948-243G=)
c.890G= (p.Ser297=)
c.276+17146C= (n.276+17146C=)
c.*220+5398G= (n.*220+5398G=)
c.14G= (p.Ser5=)
c.41G= (p.Ser14=)
c.896G= (p.Ser299=)
c.710G= (p.Ser237=)
c.629G= (p.Ser210=)
c.335G= (p.Ser112=)
c.716G= (p.Ser239=)
2g.48688826C>GCA346750420GTF2A1L,LHCGR,STON1-GTF2A1Lc.971G>C (p.Ser324Thr)
c.948-687G>C (n.948-687G>C)
c.3441+17146C>G (n.3441+17146C>G)
c.948-243G>C (n.948-243G>C)
c.890G>C (p.Ser297Thr)
c.276+17146C>G (n.276+17146C>G)
c.*220+5398G>C (n.*220+5398G>C)
c.14G>C (p.Ser5Thr)
c.41G>C (p.Ser14Thr)
c.896G>C (p.Ser299Thr)
c.710G>C (p.Ser237Thr)
c.629G>C (p.Ser210Thr)
c.335G>C (p.Ser112Thr)
c.716G>C (p.Ser239Thr)
2g.48688826C>TCA346750424GTF2A1L,LHCGR,STON1-GTF2A1Lc.971G>A (p.Ser324Asn)
c.948-687G>A (n.948-687G>A)
c.3441+17146C>T (n.3441+17146C>T)
c.948-243G>A (n.948-243G>A)
c.890G>A (p.Ser297Asn)
c.276+17146C>T (n.276+17146C>T)
c.*220+5398G>A (n.*220+5398G>A)
c.14G>A (p.Ser5Asn)
c.41G>A (p.Ser14Asn)
c.896G>A (p.Ser299Asn)
c.710G>A (p.Ser237Asn)
c.629G>A (p.Ser210Asn)
c.335G>A (p.Ser112Asn)
c.716G>A (p.Ser239Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.48688829_48688830delCA2749836839GTF2A1L,LHCGR,STON1-GTF2A1Lc.970_971del (p.Ser324Ter)
c.948-688_948-687del (n.948-688_948-687del)
c.3441+17149_3441+17150del (n.3441+17149_3441+17150del)
c.948-244_948-243del (n.948-244_948-243del)
c.889_890del (p.Ser297Ter)
c.276+17149_276+17150del (n.276+17149_276+17150del)
c.*220+5397_*220+5398del (n.*220+5397_*220+5398del)
c.13_14del (p.Ser5Ter)
c.40_41del (p.Ser14Ter)
c.895_896del (p.Ser299Ter)
c.709_710del (p.Ser237Ter)
c.628_629del (p.Ser210Ter)
c.334_335del (p.Ser112Ter)
c.715_716del (p.Ser239Ter)
2g.48688827T>ACA346750428GTF2A1L,LHCGR,STON1-GTF2A1Lc.970A>T (p.Ser324Cys)
c.948-688A>T (n.948-688A>T)
c.3441+17147T>A (n.3441+17147T>A)
c.948-244A>T (n.948-244A>T)
c.889A>T (p.Ser297Cys)
c.276+17147T>A (n.276+17147T>A)
c.*220+5397A>T (n.*220+5397A>T)
c.13A>T (p.Ser5Cys)
c.40A>T (p.Ser14Cys)
c.895A>T (p.Ser299Cys)
c.709A>T (p.Ser237Cys)
c.628A>T (p.Ser210Cys)
c.334A>T (p.Ser112Cys)
c.715A>T (p.Ser239Cys)
2g.48688827T>CCA346750431GTF2A1L,LHCGR,STON1-GTF2A1Lc.970A>G (p.Ser324Gly)
c.948-688A>G (n.948-688A>G)
c.3441+17147T>C (n.3441+17147T>C)
c.948-244A>G (n.948-244A>G)
c.889A>G (p.Ser297Gly)
c.276+17147T>C (n.276+17147T>C)
c.*220+5397A>G (n.*220+5397A>G)
c.13A>G (p.Ser5Gly)
c.40A>G (p.Ser14Gly)
c.895A>G (p.Ser299Gly)
c.709A>G (p.Ser237Gly)
c.628A>G (p.Ser210Gly)
c.334A>G (p.Ser112Gly)
c.715A>G (p.Ser239Gly)
2g.48688827T>GCA346750430GTF2A1L,LHCGR,STON1-GTF2A1Lc.970A>C (p.Ser324Arg)
c.948-688A>C (n.948-688A>C)
c.3441+17147T>G (n.3441+17147T>G)
c.948-244A>C (n.948-244A>C)
c.889A>C (p.Ser297Arg)
c.276+17147T>G (n.276+17147T>G)
c.*220+5397A>C (n.*220+5397A>C)
c.13A>C (p.Ser5Arg)
c.40A>C (p.Ser14Arg)
c.895A>C (p.Ser299Arg)
c.709A>C (p.Ser237Arg)
c.628A>C (p.Ser210Arg)
c.334A>C (p.Ser112Arg)
c.715A>C (p.Ser239Arg)
2g.48688828C>ACA346750433GTF2A1L,LHCGR,STON1-GTF2A1Lc.969G>T (p.Glu323Asp)
c.948-689G>T (n.948-689G>T)
c.3441+17148C>A (n.3441+17148C>A)
c.948-245G>T (n.948-245G>T)
c.888G>T (p.Glu296Asp)
c.276+17148C>A (n.276+17148C>A)
c.*220+5396G>T (n.*220+5396G>T)
c.12G>T (p.Glu4Asp)
c.39G>T (p.Glu13Asp)
c.894G>T (p.Glu298Asp)
c.708G>T (p.Glu236Asp)
c.627G>T (p.Glu209Asp)
c.333G>T (p.Glu111Asp)
c.714G>T (p.Glu238Asp)
 COSMIC
2g.48688828C>GCA346750434GTF2A1L,LHCGR,STON1-GTF2A1Lc.969G>C (p.Glu323Asp)
c.948-689G>C (n.948-689G>C)
c.3441+17148C>G (n.3441+17148C>G)
c.948-245G>C (n.948-245G>C)
c.888G>C (p.Glu296Asp)
c.276+17148C>G (n.276+17148C>G)
c.*220+5396G>C (n.*220+5396G>C)
c.12G>C (p.Glu4Asp)
c.39G>C (p.Glu13Asp)
c.894G>C (p.Glu298Asp)
c.708G>C (p.Glu236Asp)
c.627G>C (p.Glu209Asp)
c.333G>C (p.Glu111Asp)
c.714G>C (p.Glu238Asp)
2g.48688828C>TCA426124870GTF2A1L,LHCGR,STON1-GTF2A1Lc.969G>A (p.Glu323=)
c.948-689G>A (n.948-689G>A)
c.3441+17148C>T (n.3441+17148C>T)
c.948-245G>A (n.948-245G>A)
c.888G>A (p.Glu296=)
c.276+17148C>T (n.276+17148C>T)
c.*220+5396G>A (n.*220+5396G>A)
c.12G>A (p.Glu4=)
c.39G>A (p.Glu13=)
c.894G>A (p.Glu298=)
c.708G>A (p.Glu236=)
c.627G>A (p.Glu209=)
c.333G>A (p.Glu111=)
c.714G>A (p.Glu238=)
2g.48688829T>ACA346750436GTF2A1L,LHCGR,STON1-GTF2A1Lc.968A>T (p.Glu323Val)
c.948-690A>T (n.948-690A>T)
c.3441+17149T>A (n.3441+17149T>A)
c.948-246A>T (n.948-246A>T)
c.887A>T (p.Glu296Val)
c.276+17149T>A (n.276+17149T>A)
c.*220+5395A>T (n.*220+5395A>T)
c.11A>T (p.Glu4Val)
c.38A>T (p.Glu13Val)
c.893A>T (p.Glu298Val)
c.707A>T (p.Glu236Val)
c.626A>T (p.Glu209Val)
c.332A>T (p.Glu111Val)
c.713A>T (p.Glu238Val)
2g.48688829T>CCA346750438GTF2A1L,LHCGR,STON1-GTF2A1Lc.968A>G (p.Glu323Gly)
c.948-690A>G (n.948-690A>G)
c.3441+17149T>C (n.3441+17149T>C)
c.948-246A>G (n.948-246A>G)
c.887A>G (p.Glu296Gly)
c.276+17149T>C (n.276+17149T>C)
c.*220+5395A>G (n.*220+5395A>G)
c.11A>G (p.Glu4Gly)
c.38A>G (p.Glu13Gly)
c.893A>G (p.Glu298Gly)
c.707A>G (p.Glu236Gly)
c.626A>G (p.Glu209Gly)
c.332A>G (p.Glu111Gly)
c.713A>G (p.Glu238Gly)
2g.48688829T>GCA346750440GTF2A1L,LHCGR,STON1-GTF2A1Lc.968A>C (p.Glu323Ala)
c.948-690A>C (n.948-690A>C)
c.3441+17149T>G (n.3441+17149T>G)
c.948-246A>C (n.948-246A>C)
c.887A>C (p.Glu296Ala)
c.276+17149T>G (n.276+17149T>G)
c.*220+5395A>C (n.*220+5395A>C)
c.11A>C (p.Glu4Ala)
c.38A>C (p.Glu13Ala)
c.893A>C (p.Glu298Ala)
c.707A>C (p.Glu236Ala)
c.626A>C (p.Glu209Ala)
c.332A>C (p.Glu111Ala)
c.713A>C (p.Glu238Ala)
2g.48688830C>ACA346750443GTF2A1L,LHCGR,STON1-GTF2A1Lc.967G>T (p.Glu323Ter)
c.948-691G>T (n.948-691G>T)
c.3441+17150C>A (n.3441+17150C>A)
c.948-247G>T (n.948-247G>T)
c.886G>T (p.Glu296Ter)
c.276+17150C>A (n.276+17150C>A)
c.*220+5394G>T (n.*220+5394G>T)
c.10G>T (p.Glu4Ter)
c.37G>T (p.Glu13Ter)
c.892G>T (p.Glu298Ter)
c.706G>T (p.Glu236Ter)
c.625G>T (p.Glu209Ter)
c.331G>T (p.Glu111Ter)
c.712G>T (p.Glu238Ter)
2g.48688830C>GCA346750447GTF2A1L,LHCGR,STON1-GTF2A1Lc.967G>C (p.Glu323Gln)
c.948-691G>C (n.948-691G>C)
c.3441+17150C>G (n.3441+17150C>G)
c.948-247G>C (n.948-247G>C)
c.886G>C (p.Glu296Gln)
c.276+17150C>G (n.276+17150C>G)
c.*220+5394G>C (n.*220+5394G>C)
c.10G>C (p.Glu4Gln)
c.37G>C (p.Glu13Gln)
c.892G>C (p.Glu298Gln)
c.706G>C (p.Glu236Gln)
c.625G>C (p.Glu209Gln)
c.331G>C (p.Glu111Gln)
c.712G>C (p.Glu238Gln)
2g.48688830C>TCA346750448GTF2A1L,LHCGR,STON1-GTF2A1Lc.967G>A (p.Glu323Lys)
c.948-691G>A (n.948-691G>A)
c.3441+17150C>T (n.3441+17150C>T)
c.948-247G>A (n.948-247G>A)
c.886G>A (p.Glu296Lys)
c.276+17150C>T (n.276+17150C>T)
c.*220+5394G>A (n.*220+5394G>A)
c.10G>A (p.Glu4Lys)
c.37G>A (p.Glu13Lys)
c.892G>A (p.Glu298Lys)
c.706G>A (p.Glu236Lys)
c.625G>A (p.Glu209Lys)
c.331G>A (p.Glu111Lys)
c.712G>A (p.Glu238Lys)
 COSMIC
2g.48688831A=CA1248601290GTF2A1L,LHCGR,STON1-GTF2A1Lc.966T= (p.Ala322=)
c.948-692T= (n.948-692T=)
c.3441+17151A= (n.3441+17151A=)
c.948-248T= (n.948-248T=)
c.885T= (p.Ala295=)
c.276+17151A= (n.276+17151A=)
c.*220+5393T= (n.*220+5393T=)
c.9T= (p.Ala3=)
c.36T= (p.Ala12=)
c.891T= (p.Ala297=)
c.705T= (p.Ala235=)
c.624T= (p.Ala208=)
c.330T= (p.Ala110=)
c.711T= (p.Ala237=)
2g.48688831A>CCA426124871GTF2A1L,LHCGR,STON1-GTF2A1Lc.966T>G (p.Ala322=)
c.948-692T>G (n.948-692T>G)
c.3441+17151A>C (n.3441+17151A>C)
c.948-248T>G (n.948-248T>G)
c.885T>G (p.Ala295=)
c.276+17151A>C (n.276+17151A>C)
c.*220+5393T>G (n.*220+5393T>G)
c.9T>G (p.Ala3=)
c.36T>G (p.Ala12=)
c.891T>G (p.Ala297=)
c.705T>G (p.Ala235=)
c.624T>G (p.Ala208=)
c.330T>G (p.Ala110=)
c.711T>G (p.Ala237=)
 gnomAD v4
2g.48688831A>GCA1653105GTF2A1L,LHCGR,STON1-GTF2A1Lc.966T>C (p.Ala322=)
c.948-692T>C (n.948-692T>C)
c.3441+17151A>G (n.3441+17151A>G)
c.948-248T>C (n.948-248T>C)
c.885T>C (p.Ala295=)
c.276+17151A>G (n.276+17151A>G)
c.*220+5393T>C (n.*220+5393T>C)
c.9T>C (p.Ala3=)
c.36T>C (p.Ala12=)
c.891T>C (p.Ala297=)
c.705T>C (p.Ala235=)
c.624T>C (p.Ala208=)
c.330T>C (p.Ala110=)
c.711T>C (p.Ala237=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688831A>TCA426124872GTF2A1L,LHCGR,STON1-GTF2A1Lc.966T>A (p.Ala322=)
c.948-692T>A (n.948-692T>A)
c.3441+17151A>T (n.3441+17151A>T)
c.948-248T>A (n.948-248T>A)
c.885T>A (p.Ala295=)
c.276+17151A>T (n.276+17151A>T)
c.*220+5393T>A (n.*220+5393T>A)
c.9T>A (p.Ala3=)
c.36T>A (p.Ala12=)
c.891T>A (p.Ala297=)
c.705T>A (p.Ala235=)
c.624T>A (p.Ala208=)
c.330T>A (p.Ala110=)
c.711T>A (p.Ala237=)
2g.48688832G>ACA346750454GTF2A1L,LHCGR,STON1-GTF2A1Lc.965C>T (p.Ala322Val)
c.948-693C>T (n.948-693C>T)
c.3441+17152G>A (n.3441+17152G>A)
c.948-249C>T (n.948-249C>T)
c.884C>T (p.Ala295Val)
c.276+17152G>A (n.276+17152G>A)
c.*220+5392C>T (n.*220+5392C>T)
c.8C>T (p.Ala3Val)
c.35C>T (p.Ala12Val)
c.890C>T (p.Ala297Val)
c.704C>T (p.Ala235Val)
c.623C>T (p.Ala208Val)
c.329C>T (p.Ala110Val)
c.710C>T (p.Ala237Val)
2g.48688832G>CCA346750455GTF2A1L,LHCGR,STON1-GTF2A1Lc.965C>G (p.Ala322Gly)
c.948-693C>G (n.948-693C>G)
c.3441+17152G>C (n.3441+17152G>C)
c.948-249C>G (n.948-249C>G)
c.884C>G (p.Ala295Gly)
c.276+17152G>C (n.276+17152G>C)
c.*220+5392C>G (n.*220+5392C>G)
c.8C>G (p.Ala3Gly)
c.35C>G (p.Ala12Gly)
c.890C>G (p.Ala297Gly)
c.704C>G (p.Ala235Gly)
c.623C>G (p.Ala208Gly)
c.329C>G (p.Ala110Gly)
c.710C>G (p.Ala237Gly)
2g.48688832G>TCA346750458GTF2A1L,LHCGR,STON1-GTF2A1Lc.965C>A (p.Ala322Asp)
c.948-693C>A (n.948-693C>A)
c.3441+17152G>T (n.3441+17152G>T)
c.948-249C>A (n.948-249C>A)
c.884C>A (p.Ala295Asp)
c.276+17152G>T (n.276+17152G>T)
c.*220+5392C>A (n.*220+5392C>A)
c.8C>A (p.Ala3Asp)
c.35C>A (p.Ala12Asp)
c.890C>A (p.Ala297Asp)
c.704C>A (p.Ala235Asp)
c.623C>A (p.Ala208Asp)
c.329C>A (p.Ala110Asp)
c.710C>A (p.Ala237Asp)
2g.48688833C>ACA346750465GTF2A1L,LHCGR,STON1-GTF2A1Lc.964G>T (p.Ala322Ser)
c.948-694G>T (n.948-694G>T)
c.3441+17153C>A (n.3441+17153C>A)
c.948-250G>T (n.948-250G>T)
c.883G>T (p.Ala295Ser)
c.276+17153C>A (n.276+17153C>A)
c.*220+5391G>T (n.*220+5391G>T)
c.7G>T (p.Ala3Ser)
c.34G>T (p.Ala12Ser)
c.889G>T (p.Ala297Ser)
c.703G>T (p.Ala235Ser)
c.622G>T (p.Ala208Ser)
c.328G>T (p.Ala110Ser)
c.709G>T (p.Ala237Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.48688833C=CA1248601291GTF2A1L,LHCGR,STON1-GTF2A1Lc.964G= (p.Ala322=)
c.948-694G= (n.948-694G=)
c.3441+17153C= (n.3441+17153C=)
c.948-250G= (n.948-250G=)
c.883G= (p.Ala295=)
c.276+17153C= (n.276+17153C=)
c.*220+5391G= (n.*220+5391G=)
c.7G= (p.Ala3=)
c.34G= (p.Ala12=)
c.889G= (p.Ala297=)
c.703G= (p.Ala235=)
c.622G= (p.Ala208=)
c.328G= (p.Ala110=)
c.709G= (p.Ala237=)
2g.48688833C>GCA346750464GTF2A1L,LHCGR,STON1-GTF2A1Lc.964G>C (p.Ala322Pro)
c.948-694G>C (n.948-694G>C)
c.3441+17153C>G (n.3441+17153C>G)
c.948-250G>C (n.948-250G>C)
c.883G>C (p.Ala295Pro)
c.276+17153C>G (n.276+17153C>G)
c.*220+5391G>C (n.*220+5391G>C)
c.7G>C (p.Ala3Pro)
c.34G>C (p.Ala12Pro)
c.889G>C (p.Ala297Pro)
c.703G>C (p.Ala235Pro)
c.622G>C (p.Ala208Pro)
c.328G>C (p.Ala110Pro)
c.709G>C (p.Ala237Pro)
2g.48688833C>TCA346750461GTF2A1L,LHCGR,STON1-GTF2A1Lc.964G>A (p.Ala322Thr)
c.948-694G>A (n.948-694G>A)
c.3441+17153C>T (n.3441+17153C>T)
c.948-250G>A (n.948-250G>A)
c.883G>A (p.Ala295Thr)
c.276+17153C>T (n.276+17153C>T)
c.*220+5391G>A (n.*220+5391G>A)
c.7G>A (p.Ala3Thr)
c.34G>A (p.Ala12Thr)
c.889G>A (p.Ala297Thr)
c.703G>A (p.Ala235Thr)
c.622G>A (p.Ala208Thr)
c.328G>A (p.Ala110Thr)
c.709G>A (p.Ala237Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.48688834A>CCA426124875GTF2A1L,LHCGR,STON1-GTF2A1Lc.963T>G (p.Leu321=)
c.948-695T>G (n.948-695T>G)
c.3441+17154A>C (n.3441+17154A>C)
c.948-251T>G (n.948-251T>G)
c.882T>G (p.Leu294=)
c.276+17154A>C (n.276+17154A>C)
c.*220+5390T>G (n.*220+5390T>G)
c.6T>G (p.Leu2=)
c.33T>G (p.Leu11=)
c.888T>G (p.Leu296=)
c.702T>G (p.Leu234=)
c.621T>G (p.Leu207=)
c.327T>G (p.Leu109=)
c.708T>G (p.Leu236=)
2g.48688834A>GCA426124874GTF2A1L,LHCGR,STON1-GTF2A1Lc.963T>C (p.Leu321=)
c.948-695T>C (n.948-695T>C)
c.3441+17154A>G (n.3441+17154A>G)
c.948-251T>C (n.948-251T>C)
c.882T>C (p.Leu294=)
c.276+17154A>G (n.276+17154A>G)
c.*220+5390T>C (n.*220+5390T>C)
c.6T>C (p.Leu2=)
c.33T>C (p.Leu11=)
c.888T>C (p.Leu296=)
c.702T>C (p.Leu234=)
c.621T>C (p.Leu207=)
c.327T>C (p.Leu109=)
c.708T>C (p.Leu236=)
2g.48688834A>TCA426124873GTF2A1L,LHCGR,STON1-GTF2A1Lc.963T>A (p.Leu321=)
c.948-695T>A (n.948-695T>A)
c.3441+17154A>T (n.3441+17154A>T)
c.948-251T>A (n.948-251T>A)
c.882T>A (p.Leu294=)
c.276+17154A>T (n.276+17154A>T)
c.*220+5390T>A (n.*220+5390T>A)
c.6T>A (p.Leu2=)
c.33T>A (p.Leu11=)
c.888T>A (p.Leu296=)
c.702T>A (p.Leu234=)
c.621T>A (p.Leu207=)
c.327T>A (p.Leu109=)
c.708T>A (p.Leu236=)
2g.48688835A=CA1248601292GTF2A1L,LHCGR,STON1-GTF2A1Lc.962T= (p.Leu321=)
c.948-696T= (n.948-696T=)
c.3441+17155A= (n.3441+17155A=)
c.948-252T= (n.948-252T=)
c.881T= (p.Leu294=)
c.276+17155A= (n.276+17155A=)
c.*220+5389T= (n.*220+5389T=)
c.5T= (p.Leu2=)
c.32T= (p.Leu11=)
c.887T= (p.Leu296=)
c.701T= (p.Leu234=)
c.620T= (p.Leu207=)
c.326T= (p.Leu109=)
c.707T= (p.Leu236=)
2g.48688835A>CCA346750468GTF2A1L,LHCGR,STON1-GTF2A1Lc.962T>G (p.Leu321Arg)
c.948-696T>G (n.948-696T>G)
c.3441+17155A>C (n.3441+17155A>C)
c.948-252T>G (n.948-252T>G)
c.881T>G (p.Leu294Arg)
c.276+17155A>C (n.276+17155A>C)
c.*220+5389T>G (n.*220+5389T>G)
c.5T>G (p.Leu2Arg)
c.32T>G (p.Leu11Arg)
c.887T>G (p.Leu296Arg)
c.701T>G (p.Leu234Arg)
c.620T>G (p.Leu207Arg)
c.326T>G (p.Leu109Arg)
c.707T>G (p.Leu236Arg)
2g.48688835A>GCA346750470GTF2A1L,LHCGR,STON1-GTF2A1Lc.962T>C (p.Leu321Pro)
c.948-696T>C (n.948-696T>C)
c.3441+17155A>G (n.3441+17155A>G)
c.948-252T>C (n.948-252T>C)
c.881T>C (p.Leu294Pro)
c.276+17155A>G (n.276+17155A>G)
c.*220+5389T>C (n.*220+5389T>C)
c.5T>C (p.Leu2Pro)
c.32T>C (p.Leu11Pro)
c.887T>C (p.Leu296Pro)
c.701T>C (p.Leu234Pro)
c.620T>C (p.Leu207Pro)
c.326T>C (p.Leu109Pro)
c.707T>C (p.Leu236Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688835A>TCA346750473GTF2A1L,LHCGR,STON1-GTF2A1Lc.962T>A (p.Leu321His)
c.948-696T>A (n.948-696T>A)
c.3441+17155A>T (n.3441+17155A>T)
c.948-252T>A (n.948-252T>A)
c.881T>A (p.Leu294His)
c.276+17155A>T (n.276+17155A>T)
c.*220+5389T>A (n.*220+5389T>A)
c.5T>A (p.Leu2His)
c.32T>A (p.Leu11His)
c.887T>A (p.Leu296His)
c.701T>A (p.Leu234His)
c.620T>A (p.Leu207His)
c.326T>A (p.Leu109His)
c.707T>A (p.Leu236His)
2g.48688836G>ACA346750476GTF2A1L,LHCGR,STON1-GTF2A1Lc.961C>T (p.Leu321Phe)
c.948-697C>T (n.948-697C>T)
c.3441+17156G>A (n.3441+17156G>A)
c.948-253C>T (n.948-253C>T)
c.880C>T (p.Leu294Phe)
c.276+17156G>A (n.276+17156G>A)
c.*220+5388C>T (n.*220+5388C>T)
c.4C>T (p.Leu2Phe)
c.31C>T (p.Leu11Phe)
c.886C>T (p.Leu296Phe)
c.700C>T (p.Leu234Phe)
c.619C>T (p.Leu207Phe)
c.325C>T (p.Leu109Phe)
c.706C>T (p.Leu236Phe)
2g.48688836G>CCA346750477GTF2A1L,LHCGR,STON1-GTF2A1Lc.961C>G (p.Leu321Val)
c.948-697C>G (n.948-697C>G)
c.3441+17156G>C (n.3441+17156G>C)
c.948-253C>G (n.948-253C>G)
c.880C>G (p.Leu294Val)
c.276+17156G>C (n.276+17156G>C)
c.*220+5388C>G (n.*220+5388C>G)
c.4C>G (p.Leu2Val)
c.31C>G (p.Leu11Val)
c.886C>G (p.Leu296Val)
c.700C>G (p.Leu234Val)
c.619C>G (p.Leu207Val)
c.325C>G (p.Leu109Val)
c.706C>G (p.Leu236Val)
2g.48688836G>TCA346750480GTF2A1L,LHCGR,STON1-GTF2A1Lc.961C>A (p.Leu321Ile)
c.948-697C>A (n.948-697C>A)
c.3441+17156G>T (n.3441+17156G>T)
c.948-253C>A (n.948-253C>A)
c.880C>A (p.Leu294Ile)
c.276+17156G>T (n.276+17156G>T)
c.*220+5388C>A (n.*220+5388C>A)
c.4C>A (p.Leu2Ile)
c.31C>A (p.Leu11Ile)
c.886C>A (p.Leu296Ile)
c.700C>A (p.Leu234Ile)
c.619C>A (p.Leu207Ile)
c.325C>A (p.Leu109Ile)
c.706C>A (p.Leu236Ile)
2g.48688837C>ACA346750483GTF2A1L,LHCGR,STON1-GTF2A1Lc.960G>T (p.Met320Ile)
c.948-698G>T (n.948-698G>T)
c.3441+17157C>A (n.3441+17157C>A)
c.948-254G>T (n.948-254G>T)
c.879G>T (p.Met293Ile)
c.276+17157C>A (n.276+17157C>A)
c.*220+5387G>T (n.*220+5387G>T)
c.3G>T (p.Met1Ile)
c.30G>T (p.Met10Ile)
c.885G>T (p.Met295Ile)
c.699G>T (p.Met233Ile)
c.618G>T (p.Met206Ile)
c.324G>T (p.Met108Ile)
c.705G>T (p.Met235Ile)
2g.48688837C>GCA346750484GTF2A1L,LHCGR,STON1-GTF2A1Lc.960G>C (p.Met320Ile)
c.948-698G>C (n.948-698G>C)
c.3441+17157C>G (n.3441+17157C>G)
c.948-254G>C (n.948-254G>C)
c.879G>C (p.Met293Ile)
c.276+17157C>G (n.276+17157C>G)
c.*220+5387G>C (n.*220+5387G>C)
c.3G>C (p.Met1Ile)
c.30G>C (p.Met10Ile)
c.885G>C (p.Met295Ile)
c.699G>C (p.Met233Ile)
c.618G>C (p.Met206Ile)
c.324G>C (p.Met108Ile)
c.705G>C (p.Met235Ile)
2g.48688837C>TCA346750485GTF2A1L,LHCGR,STON1-GTF2A1Lc.960G>A (p.Met320Ile)
c.948-698G>A (n.948-698G>A)
c.3441+17157C>T (n.3441+17157C>T)
c.948-254G>A (n.948-254G>A)
c.879G>A (p.Met293Ile)
c.276+17157C>T (n.276+17157C>T)
c.*220+5387G>A (n.*220+5387G>A)
c.3G>A (p.Met1Ile)
c.30G>A (p.Met10Ile)
c.885G>A (p.Met295Ile)
c.699G>A (p.Met233Ile)
c.618G>A (p.Met206Ile)
c.324G>A (p.Met108Ile)
c.705G>A (p.Met235Ile)
2g.48688838A=CA1248601293GTF2A1L,LHCGR,STON1-GTF2A1Lc.959T= (p.Met320=)
c.948-699T= (n.948-699T=)
c.3441+17158A= (n.3441+17158A=)
c.948-255T= (n.948-255T=)
c.878T= (p.Met293=)
c.276+17158A= (n.276+17158A=)
c.*220+5386T= (n.*220+5386T=)
c.2T= (p.Met1=)
c.29T= (p.Met10=)
c.884T= (p.Met295=)
c.698T= (p.Met233=)
c.617T= (p.Met206=)
c.323T= (p.Met108=)
c.704T= (p.Met235=)
2g.48688838A>CCA346750490GTF2A1L,LHCGR,STON1-GTF2A1Lc.959T>G (p.Met320Arg)
c.948-699T>G (n.948-699T>G)
c.3441+17158A>C (n.3441+17158A>C)
c.948-255T>G (n.948-255T>G)
c.878T>G (p.Met293Arg)
c.276+17158A>C (n.276+17158A>C)
c.*220+5386T>G (n.*220+5386T>G)
c.2T>G (p.Met1Arg)
c.29T>G (p.Met10Arg)
c.884T>G (p.Met295Arg)
c.698T>G (p.Met233Arg)
c.617T>G (p.Met206Arg)
c.323T>G (p.Met108Arg)
c.704T>G (p.Met235Arg)
2g.48688838A>GCA1653106GTF2A1L,LHCGR,STON1-GTF2A1Lc.959T>C (p.Met320Thr)
c.948-699T>C (n.948-699T>C)
c.3441+17158A>G (n.3441+17158A>G)
c.948-255T>C (n.948-255T>C)
c.878T>C (p.Met293Thr)
c.276+17158A>G (n.276+17158A>G)
c.*220+5386T>C (n.*220+5386T>C)
c.2T>C (p.Met1Thr)
c.29T>C (p.Met10Thr)
c.884T>C (p.Met295Thr)
c.698T>C (p.Met233Thr)
c.617T>C (p.Met206Thr)
c.323T>C (p.Met108Thr)
c.704T>C (p.Met235Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688838A>TCA346750493GTF2A1L,LHCGR,STON1-GTF2A1Lc.959T>A (p.Met320Lys)
c.948-699T>A (n.948-699T>A)
c.3441+17158A>T (n.3441+17158A>T)
c.948-255T>A (n.948-255T>A)
c.878T>A (p.Met293Lys)
c.276+17158A>T (n.276+17158A>T)
c.*220+5386T>A (n.*220+5386T>A)
c.2T>A (p.Met1Lys)
c.29T>A (p.Met10Lys)
c.884T>A (p.Met295Lys)
c.698T>A (p.Met233Lys)
c.617T>A (p.Met206Lys)
c.323T>A (p.Met108Lys)
c.704T>A (p.Met235Lys)
2g.48688839T>ACA346750495GTF2A1L,LHCGR,STON1-GTF2A1Lc.958A>T (p.Met320Leu)
c.948-700A>T (n.948-700A>T)
c.3441+17159T>A (n.3441+17159T>A)
c.948-256A>T (n.948-256A>T)
c.877A>T (p.Met293Leu)
c.276+17159T>A (n.276+17159T>A)
c.*220+5385A>T (n.*220+5385A>T)
c.1A>T (p.Met1Leu)
c.28A>T (p.Met10Leu)
c.883A>T (p.Met295Leu)
c.697A>T (p.Met233Leu)
c.616A>T (p.Met206Leu)
c.322A>T (p.Met108Leu)
c.703A>T (p.Met235Leu)
2g.48688839T>CCA346750499GTF2A1L,LHCGR,STON1-GTF2A1Lc.958A>G (p.Met320Val)
c.948-700A>G (n.948-700A>G)
c.3441+17159T>C (n.3441+17159T>C)
c.948-256A>G (n.948-256A>G)
c.877A>G (p.Met293Val)
c.276+17159T>C (n.276+17159T>C)
c.*220+5385A>G (n.*220+5385A>G)
c.1A>G (p.Met1Val)
c.28A>G (p.Met10Val)
c.883A>G (p.Met295Val)
c.697A>G (p.Met233Val)
c.616A>G (p.Met206Val)
c.322A>G (p.Met108Val)
c.703A>G (p.Met235Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688839T>GCA346750498GTF2A1L,LHCGR,STON1-GTF2A1Lc.958A>C (p.Met320Leu)
c.948-700A>C (n.948-700A>C)
c.3441+17159T>G (n.3441+17159T>G)
c.948-256A>C (n.948-256A>C)
c.877A>C (p.Met293Leu)
c.276+17159T>G (n.276+17159T>G)
c.*220+5385A>C (n.*220+5385A>C)
c.1A>C (p.Met1Leu)
c.28A>C (p.Met10Leu)
c.883A>C (p.Met295Leu)
c.697A>C (p.Met233Leu)
c.616A>C (p.Met206Leu)
c.322A>C (p.Met108Leu)
c.703A>C (p.Met235Leu)
2g.48688839T=CA1248601294GTF2A1L,LHCGR,STON1-GTF2A1Lc.958A= (p.Met320=)
c.948-700A= (n.948-700A=)
c.3441+17159T= (n.3441+17159T=)
c.948-256A= (n.948-256A=)
c.877A= (p.Met293=)
c.276+17159T= (n.276+17159T=)
c.*220+5385A= (n.*220+5385A=)
c.1A= (p.Met1=)
c.28A= (p.Met10=)
c.883A= (p.Met295=)
c.697A= (p.Met233=)
c.616A= (p.Met206=)
c.322A= (p.Met108=)
c.703A= (p.Met235=)
2g.48688840G>ACA426124876GTF2A1L,LHCGR,STON1-GTF2A1Lc.957C>T (p.Ser319=)
c.948-701C>T (n.948-701C>T)
c.3441+17160G>A (n.3441+17160G>A)
c.948-257C>T (n.948-257C>T)
c.876C>T (p.Ser292=)
c.276+17160G>A (n.276+17160G>A)
c.*220+5384C>T (n.*220+5384C>T)
c.-1C>T (n.-1C>T)
c.27C>T (p.Ser9=)
c.882C>T (p.Ser294=)
c.696C>T (p.Ser232=)
c.615C>T (p.Ser205=)
c.321C>T (p.Ser107=)
c.702C>T (p.Ser234=)
 dbSNP gnomAD v2 gnomAD v4
2g.48688840G>CCA426124877GTF2A1L,LHCGR,STON1-GTF2A1Lc.957C>G (p.Ser319=)
c.948-701C>G (n.948-701C>G)
c.3441+17160G>C (n.3441+17160G>C)
c.948-257C>G (n.948-257C>G)
c.876C>G (p.Ser292=)
c.276+17160G>C (n.276+17160G>C)
c.*220+5384C>G (n.*220+5384C>G)
c.-1C>G (n.-1C>G)
c.27C>G (p.Ser9=)
c.882C>G (p.Ser294=)
c.696C>G (p.Ser232=)
c.615C>G (p.Ser205=)
c.321C>G (p.Ser107=)
c.702C>G (p.Ser234=)
2g.48688840G=CA1248601295GTF2A1L,LHCGR,STON1-GTF2A1Lc.957C= (p.Ser319=)
c.948-701C= (n.948-701C=)
c.3441+17160G= (n.3441+17160G=)
c.948-257C= (n.948-257C=)
c.876C= (p.Ser292=)
c.276+17160G= (n.276+17160G=)
c.*220+5384C= (n.*220+5384C=)
c.-1C= (n.-1C=)
c.27C= (p.Ser9=)
c.882C= (p.Ser294=)
c.696C= (p.Ser232=)
c.615C= (p.Ser205=)
c.321C= (p.Ser107=)
c.702C= (p.Ser234=)
2g.48688840G>TCA426124878GTF2A1L,LHCGR,STON1-GTF2A1Lc.957C>A (p.Ser319=)
c.948-701C>A (n.948-701C>A)
c.3441+17160G>T (n.3441+17160G>T)
c.948-257C>A (n.948-257C>A)
c.876C>A (p.Ser292=)
c.276+17160G>T (n.276+17160G>T)
c.*220+5384C>A (n.*220+5384C>A)
c.-1C>A (n.-1C>A)
c.27C>A (p.Ser9=)
c.882C>A (p.Ser294=)
c.696C>A (p.Ser232=)
c.615C>A (p.Ser205=)
c.321C>A (p.Ser107=)
c.702C>A (p.Ser234=)
2g.48688841G>ACA346750500GTF2A1L,LHCGR,STON1-GTF2A1Lc.956C>T (p.Ser319Phe)
c.948-702C>T (n.948-702C>T)
c.3441+17161G>A (n.3441+17161G>A)
c.948-258C>T (n.948-258C>T)
c.875C>T (p.Ser292Phe)
c.276+17161G>A (n.276+17161G>A)
c.*220+5383C>T (n.*220+5383C>T)
c.-2C>T (n.-2C>T)
c.26C>T (p.Ser9Phe)
c.881C>T (p.Ser294Phe)
c.695C>T (p.Ser232Phe)
c.614C>T (p.Ser205Phe)
c.320C>T (p.Ser107Phe)
c.701C>T (p.Ser234Phe)
 dbSNP
2g.48688841G>CCA346750505GTF2A1L,LHCGR,STON1-GTF2A1Lc.956C>G (p.Ser319Cys)
c.948-702C>G (n.948-702C>G)
c.3441+17161G>C (n.3441+17161G>C)
c.948-258C>G (n.948-258C>G)
c.875C>G (p.Ser292Cys)
c.276+17161G>C (n.276+17161G>C)
c.*220+5383C>G (n.*220+5383C>G)
c.-2C>G (n.-2C>G)
c.26C>G (p.Ser9Cys)
c.881C>G (p.Ser294Cys)
c.695C>G (p.Ser232Cys)
c.614C>G (p.Ser205Cys)
c.320C>G (p.Ser107Cys)
c.701C>G (p.Ser234Cys)
2g.48688841G=CA1248601296GTF2A1L,LHCGR,STON1-GTF2A1Lc.956C= (p.Ser319=)
c.948-702C= (n.948-702C=)
c.3441+17161G= (n.3441+17161G=)
c.948-258C= (n.948-258C=)
c.875C= (p.Ser292=)
c.276+17161G= (n.276+17161G=)
c.*220+5383C= (n.*220+5383C=)
c.-2C= (n.-2C=)
c.26C= (p.Ser9=)
c.881C= (p.Ser294=)
c.695C= (p.Ser232=)
c.614C= (p.Ser205=)
c.320C= (p.Ser107=)
c.701C= (p.Ser234=)
2g.48688841G>TCA346750502GTF2A1L,LHCGR,STON1-GTF2A1Lc.956C>A (p.Ser319Tyr)
c.948-702C>A (n.948-702C>A)
c.3441+17161G>T (n.3441+17161G>T)
c.948-258C>A (n.948-258C>A)
c.875C>A (p.Ser292Tyr)
c.276+17161G>T (n.276+17161G>T)
c.*220+5383C>A (n.*220+5383C>A)
c.-2C>A (n.-2C>A)
c.26C>A (p.Ser9Tyr)
c.881C>A (p.Ser294Tyr)
c.695C>A (p.Ser232Tyr)
c.614C>A (p.Ser205Tyr)
c.320C>A (p.Ser107Tyr)
c.701C>A (p.Ser234Tyr)
2g.48688842A>CCA346750507GTF2A1L,LHCGR,STON1-GTF2A1Lc.955T>G (p.Ser319Ala)
c.948-703T>G (n.948-703T>G)
c.3441+17162A>C (n.3441+17162A>C)
c.948-259T>G (n.948-259T>G)
c.874T>G (p.Ser292Ala)
c.276+17162A>C (n.276+17162A>C)
c.*220+5382T>G (n.*220+5382T>G)
c.-3T>G (n.-3T>G)
c.25T>G (p.Ser9Ala)
c.880T>G (p.Ser294Ala)
c.694T>G (p.Ser232Ala)
c.613T>G (p.Ser205Ala)
c.319T>G (p.Ser107Ala)
c.700T>G (p.Ser234Ala)
2g.48688842A>GCA346750509GTF2A1L,LHCGR,STON1-GTF2A1Lc.955T>C (p.Ser319Pro)
c.948-703T>C (n.948-703T>C)
c.3441+17162A>G (n.3441+17162A>G)
c.948-259T>C (n.948-259T>C)
c.874T>C (p.Ser292Pro)
c.276+17162A>G (n.276+17162A>G)
c.*220+5382T>C (n.*220+5382T>C)
c.-3T>C (n.-3T>C)
c.25T>C (p.Ser9Pro)
c.880T>C (p.Ser294Pro)
c.694T>C (p.Ser232Pro)
c.613T>C (p.Ser205Pro)
c.319T>C (p.Ser107Pro)
c.700T>C (p.Ser234Pro)
2g.48688842A>TCA346750513GTF2A1L,LHCGR,STON1-GTF2A1Lc.955T>A (p.Ser319Thr)
c.948-703T>A (n.948-703T>A)
c.3441+17162A>T (n.3441+17162A>T)
c.948-259T>A (n.948-259T>A)
c.874T>A (p.Ser292Thr)
c.276+17162A>T (n.276+17162A>T)
c.*220+5382T>A (n.*220+5382T>A)
c.-3T>A (n.-3T>A)
c.25T>A (p.Ser9Thr)
c.880T>A (p.Ser294Thr)
c.694T>A (p.Ser232Thr)
c.613T>A (p.Ser205Thr)
c.319T>A (p.Ser107Thr)
c.700T>A (p.Ser234Thr)
2g.48688843A>CCA426124879GTF2A1L,LHCGR,STON1-GTF2A1Lc.954T>G (p.Ser318=)
c.948-704T>G (n.948-704T>G)
c.3441+17163A>C (n.3441+17163A>C)
c.948-260T>G (n.948-260T>G)
c.873T>G (p.Ser291=)
c.276+17163A>C (n.276+17163A>C)
c.*220+5381T>G (n.*220+5381T>G)
c.-4T>G (n.-4T>G)
c.24T>G (p.Ser8=)
c.879T>G (p.Ser293=)
c.693T>G (p.Ser231=)
c.612T>G (p.Ser204=)
c.318T>G (p.Ser106=)
c.699T>G (p.Ser233=)
2g.48688843A>GCA426124880GTF2A1L,LHCGR,STON1-GTF2A1Lc.954T>C (p.Ser318=)
c.948-704T>C (n.948-704T>C)
c.3441+17163A>G (n.3441+17163A>G)
c.948-260T>C (n.948-260T>C)
c.873T>C (p.Ser291=)
c.276+17163A>G (n.276+17163A>G)
c.*220+5381T>C (n.*220+5381T>C)
c.-4T>C (n.-4T>C)
c.24T>C (p.Ser8=)
c.879T>C (p.Ser293=)
c.693T>C (p.Ser231=)
c.612T>C (p.Ser204=)
c.318T>C (p.Ser106=)
c.699T>C (p.Ser233=)
2g.48688843A>TCA426124881GTF2A1L,LHCGR,STON1-GTF2A1Lc.954T>A (p.Ser318=)
c.948-704T>A (n.948-704T>A)
c.3441+17163A>T (n.3441+17163A>T)
c.948-260T>A (n.948-260T>A)
c.873T>A (p.Ser291=)
c.276+17163A>T (n.276+17163A>T)
c.*220+5381T>A (n.*220+5381T>A)
c.-4T>A (n.-4T>A)
c.24T>A (p.Ser8=)
c.879T>A (p.Ser293=)
c.693T>A (p.Ser231=)
c.612T>A (p.Ser204=)
c.318T>A (p.Ser106=)
c.699T>A (p.Ser233=)
2g.48688844G>ACA1653107GTF2A1L,LHCGR,STON1-GTF2A1Lc.953C>T (p.Ser318Phe)
c.948-705C>T (n.948-705C>T)
c.3441+17164G>A (n.3441+17164G>A)
c.948-261C>T (n.948-261C>T)
c.872C>T (p.Ser291Phe)
c.276+17164G>A (n.276+17164G>A)
c.*220+5380C>T (n.*220+5380C>T)
c.-5C>T (n.-5C>T)
c.23C>T (p.Ser8Phe)
c.878C>T (p.Ser293Phe)
c.692C>T (p.Ser231Phe)
c.611C>T (p.Ser204Phe)
c.317C>T (p.Ser106Phe)
c.698C>T (p.Ser233Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688844G>CCA346750518GTF2A1L,LHCGR,STON1-GTF2A1Lc.953C>G (p.Ser318Cys)
c.948-705C>G (n.948-705C>G)
c.3441+17164G>C (n.3441+17164G>C)
c.948-261C>G (n.948-261C>G)
c.872C>G (p.Ser291Cys)
c.276+17164G>C (n.276+17164G>C)
c.*220+5380C>G (n.*220+5380C>G)
c.-5C>G (n.-5C>G)
c.23C>G (p.Ser8Cys)
c.878C>G (p.Ser293Cys)
c.692C>G (p.Ser231Cys)
c.611C>G (p.Ser204Cys)
c.317C>G (p.Ser106Cys)
c.698C>G (p.Ser233Cys)
2g.48688844G=CA1248601297GTF2A1L,LHCGR,STON1-GTF2A1Lc.953C= (p.Ser318=)
c.948-705C= (n.948-705C=)
c.3441+17164G= (n.3441+17164G=)
c.948-261C= (n.948-261C=)
c.872C= (p.Ser291=)
c.276+17164G= (n.276+17164G=)
c.*220+5380C= (n.*220+5380C=)
c.-5C= (n.-5C=)
c.23C= (p.Ser8=)
c.878C= (p.Ser293=)
c.692C= (p.Ser231=)
c.611C= (p.Ser204=)
c.317C= (p.Ser106=)
c.698C= (p.Ser233=)
2g.48688844G>TCA346750521GTF2A1L,LHCGR,STON1-GTF2A1Lc.953C>A (p.Ser318Tyr)
c.948-705C>A (n.948-705C>A)
c.3441+17164G>T (n.3441+17164G>T)
c.948-261C>A (n.948-261C>A)
c.872C>A (p.Ser291Tyr)
c.276+17164G>T (n.276+17164G>T)
c.*220+5380C>A (n.*220+5380C>A)
c.-5C>A (n.-5C>A)
c.23C>A (p.Ser8Tyr)
c.878C>A (p.Ser293Tyr)
c.692C>A (p.Ser231Tyr)
c.611C>A (p.Ser204Tyr)
c.317C>A (p.Ser106Tyr)
c.698C>A (p.Ser233Tyr)
2g.48688845A>CCA346750524GTF2A1L,LHCGR,STON1-GTF2A1Lc.952T>G (p.Ser318Ala)
c.948-706T>G (n.948-706T>G)
c.3441+17165A>C (n.3441+17165A>C)
c.948-262T>G (n.948-262T>G)
c.871T>G (p.Ser291Ala)
c.276+17165A>C (n.276+17165A>C)
c.*220+5379T>G (n.*220+5379T>G)
c.-6T>G (n.-6T>G)
c.22T>G (p.Ser8Ala)
c.877T>G (p.Ser293Ala)
c.691T>G (p.Ser231Ala)
c.610T>G (p.Ser204Ala)
c.316T>G (p.Ser106Ala)
c.697T>G (p.Ser233Ala)
2g.48688845A>GCA346750526GTF2A1L,LHCGR,STON1-GTF2A1Lc.952T>C (p.Ser318Pro)
c.948-706T>C (n.948-706T>C)
c.3441+17165A>G (n.3441+17165A>G)
c.948-262T>C (n.948-262T>C)
c.871T>C (p.Ser291Pro)
c.276+17165A>G (n.276+17165A>G)
c.*220+5379T>C (n.*220+5379T>C)
c.-6T>C (n.-6T>C)
c.22T>C (p.Ser8Pro)
c.877T>C (p.Ser293Pro)
c.691T>C (p.Ser231Pro)
c.610T>C (p.Ser204Pro)
c.316T>C (p.Ser106Pro)
c.697T>C (p.Ser233Pro)
2g.48688845A>TCA346750528GTF2A1L,LHCGR,STON1-GTF2A1Lc.952T>A (p.Ser318Thr)
c.948-706T>A (n.948-706T>A)
c.3441+17165A>T (n.3441+17165A>T)
c.948-262T>A (n.948-262T>A)
c.871T>A (p.Ser291Thr)
c.276+17165A>T (n.276+17165A>T)
c.*220+5379T>A (n.*220+5379T>A)
c.-6T>A (n.-6T>A)
c.22T>A (p.Ser8Thr)
c.877T>A (p.Ser293Thr)
c.691T>A (p.Ser231Thr)
c.610T>A (p.Ser204Thr)
c.316T>A (p.Ser106Thr)
c.697T>A (p.Ser233Thr)
2g.48688846A=CA1248601298GTF2A1L,LHCGR,STON1-GTF2A1Lc.951T= (p.Tyr317=)
c.948-707T= (n.948-707T=)
c.3441+17166A= (n.3441+17166A=)
c.948-263T= (n.948-263T=)
c.870T= (p.Tyr290=)
c.276+17166A= (n.276+17166A=)
c.*220+5378T= (n.*220+5378T=)
c.-7T= (n.-7T=)
c.21T= (p.Tyr7=)
c.876T= (p.Tyr292=)
c.690T= (p.Tyr230=)
c.609T= (p.Tyr203=)
c.315T= (p.Tyr105=)
c.696T= (p.Tyr232=)
2g.48688846A>CCA346750531GTF2A1L,LHCGR,STON1-GTF2A1Lc.951T>G (p.Tyr317Ter)
c.948-707T>G (n.948-707T>G)
c.3441+17166A>C (n.3441+17166A>C)
c.948-263T>G (n.948-263T>G)
c.870T>G (p.Tyr290Ter)
c.276+17166A>C (n.276+17166A>C)
c.*220+5378T>G (n.*220+5378T>G)
c.-7T>G (n.-7T>G)
c.21T>G (p.Tyr7Ter)
c.876T>G (p.Tyr292Ter)
c.690T>G (p.Tyr230Ter)
c.609T>G (p.Tyr203Ter)
c.315T>G (p.Tyr105Ter)
c.696T>G (p.Tyr232Ter)
2g.48688846A>GCA426124882GTF2A1L,LHCGR,STON1-GTF2A1Lc.951T>C (p.Tyr317=)
c.948-707T>C (n.948-707T>C)
c.3441+17166A>G (n.3441+17166A>G)
c.948-263T>C (n.948-263T>C)
c.870T>C (p.Tyr290=)
c.276+17166A>G (n.276+17166A>G)
c.*220+5378T>C (n.*220+5378T>C)
c.-7T>C (n.-7T>C)
c.21T>C (p.Tyr7=)
c.876T>C (p.Tyr292=)
c.690T>C (p.Tyr230=)
c.609T>C (p.Tyr203=)
c.315T>C (p.Tyr105=)
c.696T>C (p.Tyr232=)
 dbSNP gnomAD v3 gnomAD v4
2g.48688846A>TCA346750533GTF2A1L,LHCGR,STON1-GTF2A1Lc.951T>A (p.Tyr317Ter)
c.948-707T>A (n.948-707T>A)
c.3441+17166A>T (n.3441+17166A>T)
c.948-263T>A (n.948-263T>A)
c.870T>A (p.Tyr290Ter)
c.276+17166A>T (n.276+17166A>T)
c.*220+5378T>A (n.*220+5378T>A)
c.-7T>A (n.-7T>A)
c.21T>A (p.Tyr7Ter)
c.876T>A (p.Tyr292Ter)
c.690T>A (p.Tyr230Ter)
c.609T>A (p.Tyr203Ter)
c.315T>A (p.Tyr105Ter)
c.696T>A (p.Tyr232Ter)
2g.48688846_48688852delinsATAACTGCA1248601299GTF2A1L,LHCGR,STON1-GTF2A1Lc.948-3_951delinsCAGTTAT
c.948-713_948-707delinsCAGTTAT (n.948-713_948-707delinsCAGTTAT)
c.3441+17166_3441+17172delinsATAACTG (n.3441+17166_3441+17172delinsATAACTG)
c.948-269_948-263delinsCAGTTAT (n.948-269_948-263delinsCAGTTAT)
c.867-3_870delinsCAGTTAT
c.276+17166_276+17172delinsATAACTG (n.276+17166_276+17172delinsATAACTG)
c.*220+5372_*220+5378delinsCAGTTAT (n.*220+5372_*220+5378delinsCAGTTAT)
c.-10-3_-7delinsCAGTTAT
c.18-3_21delinsCAGTTAT
c.873-3_876delinsCAGTTAT
c.687-3_690delinsCAGTTAT
c.606-3_609delinsCAGTTAT
c.312-3_315delinsCAGTTAT
c.693-3_696delinsCAGTTAT
2g.48688847T>ACA346750539GTF2A1L,LHCGR,STON1-GTF2A1Lc.950A>T (p.Tyr317Phe)
c.948-708A>T (n.948-708A>T)
c.3441+17167T>A (n.3441+17167T>A)
c.948-264A>T (n.948-264A>T)
c.869A>T (p.Tyr290Phe)
c.276+17167T>A (n.276+17167T>A)
c.*220+5377A>T (n.*220+5377A>T)
c.-8A>T (n.-8A>T)
c.20A>T (p.Tyr7Phe)
c.875A>T (p.Tyr292Phe)
c.689A>T (p.Tyr230Phe)
c.608A>T (p.Tyr203Phe)
c.314A>T (p.Tyr105Phe)
c.695A>T (p.Tyr232Phe)
2g.48688847T>CCA346750535GTF2A1L,LHCGR,STON1-GTF2A1Lc.950A>G (p.Tyr317Cys)
c.948-708A>G (n.948-708A>G)
c.3441+17167T>C (n.3441+17167T>C)
c.948-264A>G (n.948-264A>G)
c.869A>G (p.Tyr290Cys)
c.276+17167T>C (n.276+17167T>C)
c.*220+5377A>G (n.*220+5377A>G)
c.-8A>G (n.-8A>G)
c.20A>G (p.Tyr7Cys)
c.875A>G (p.Tyr292Cys)
c.689A>G (p.Tyr230Cys)
c.608A>G (p.Tyr203Cys)
c.314A>G (p.Tyr105Cys)
c.695A>G (p.Tyr232Cys)
 COSMIC
2g.48688847T>GCA346750536GTF2A1L,LHCGR,STON1-GTF2A1Lc.950A>C (p.Tyr317Ser)
c.948-708A>C (n.948-708A>C)
c.3441+17167T>G (n.3441+17167T>G)
c.948-264A>C (n.948-264A>C)
c.869A>C (p.Tyr290Ser)
c.276+17167T>G (n.276+17167T>G)
c.*220+5377A>C (n.*220+5377A>C)
c.-8A>C (n.-8A>C)
c.20A>C (p.Tyr7Ser)
c.875A>C (p.Tyr292Ser)
c.689A>C (p.Tyr230Ser)
c.608A>C (p.Tyr203Ser)
c.314A>C (p.Tyr105Ser)
c.695A>C (p.Tyr232Ser)
2g.48688850_48688855delCA1248601300GTF2A1L,LHCGR,STON1-GTF2A1Lc.948-3_950del
c.948-713_948-708del (n.948-713_948-708del)
c.3441+17170_3441+17175del (n.3441+17170_3441+17175del)
c.948-269_948-264del (n.948-269_948-264del)
c.867-3_869del
c.276+17170_276+17175del (n.276+17170_276+17175del)
c.*220+5372_*220+5377del (n.*220+5372_*220+5377del)
c.-10-3_-8del
c.18-3_20del
c.873-3_875del
c.687-3_689del
c.606-3_608del
c.312-3_314del
c.693-3_695del
 dbSNP
2g.48688848A>CCA346750540GTF2A1L,LHCGR,STON1-GTF2A1Lc.949T>G (p.Tyr317Asp)
c.948-709T>G (n.948-709T>G)
c.3441+17168A>C (n.3441+17168A>C)
c.948-265T>G (n.948-265T>G)
c.868T>G (p.Tyr290Asp)
c.276+17168A>C (n.276+17168A>C)
c.*220+5376T>G (n.*220+5376T>G)
c.-9T>G (n.-9T>G)
c.19T>G (p.Tyr7Asp)
c.874T>G (p.Tyr292Asp)
c.688T>G (p.Tyr230Asp)
c.607T>G (p.Tyr203Asp)
c.313T>G (p.Tyr105Asp)
c.694T>G (p.Tyr232Asp)
2g.48688848A>GCA346750542GTF2A1L,LHCGR,STON1-GTF2A1Lc.949T>C (p.Tyr317His)
c.948-709T>C (n.948-709T>C)
c.3441+17168A>G (n.3441+17168A>G)
c.948-265T>C (n.948-265T>C)
c.868T>C (p.Tyr290His)
c.276+17168A>G (n.276+17168A>G)
c.*220+5376T>C (n.*220+5376T>C)
c.-9T>C (n.-9T>C)
c.19T>C (p.Tyr7His)
c.874T>C (p.Tyr292His)
c.688T>C (p.Tyr230His)
c.607T>C (p.Tyr203His)
c.313T>C (p.Tyr105His)
c.694T>C (p.Tyr232His)
 gnomAD v4
2g.48688848A>TCA346750545GTF2A1L,LHCGR,STON1-GTF2A1Lc.949T>A (p.Tyr317Asn)
c.948-709T>A (n.948-709T>A)
c.3441+17168A>T (n.3441+17168A>T)
c.948-265T>A (n.948-265T>A)
c.868T>A (p.Tyr290Asn)
c.276+17168A>T (n.276+17168A>T)
c.*220+5376T>A (n.*220+5376T>A)
c.-9T>A (n.-9T>A)
c.19T>A (p.Tyr7Asn)
c.874T>A (p.Tyr292Asn)
c.688T>A (p.Tyr230Asn)
c.607T>A (p.Tyr203Asn)
c.313T>A (p.Tyr105Asn)
c.694T>A (p.Tyr232Asn)
2g.48688849A>CCA346750547GTF2A1L,LHCGR,STON1-GTF2A1Lc.948T>G (p.Leu316=)
c.948-710T>G (n.948-710T>G)
c.3441+17169A>C (n.3441+17169A>C)
c.948-266T>G (n.948-266T>G)
c.867T>G (p.Asp289Glu)
c.276+17169A>C (n.276+17169A>C)
c.*220+5375T>G (n.*220+5375T>G)
c.-10T>G (n.-10T>G)
c.18T>G (p.Gly6=)
c.873T>G (p.Leu291=)
c.687T>G (p.Leu229=)
c.606T>G (p.Phe202Leu)
c.312T>G (p.Leu104=)
c.693T>G (p.Leu231=)
2g.48688849A>GCA426124886GTF2A1L,LHCGR,STON1-GTF2A1Lc.948T>C (p.Leu316=)
c.948-710T>C (n.948-710T>C)
c.3441+17169A>G (n.3441+17169A>G)
c.948-266T>C (n.948-266T>C)
c.867T>C (p.Asp289=)
c.276+17169A>G (n.276+17169A>G)
c.*220+5375T>C (n.*220+5375T>C)
c.-10T>C (n.-10T>C)
c.18T>C (p.Gly6=)
c.873T>C (p.Leu291=)
c.687T>C (p.Leu229=)
c.606T>C (p.Phe202=)
c.312T>C (p.Leu104=)
c.693T>C (p.Leu231=)
2g.48688849A>TCA346750548GTF2A1L,LHCGR,STON1-GTF2A1Lc.948T>A (p.Leu316=)
c.948-710T>A (n.948-710T>A)
c.3441+17169A>T (n.3441+17169A>T)
c.948-266T>A (n.948-266T>A)
c.867T>A (p.Asp289Glu)
c.276+17169A>T (n.276+17169A>T)
c.*220+5375T>A (n.*220+5375T>A)
c.-10T>A (n.-10T>A)
c.18T>A (p.Gly6=)
c.873T>A (p.Leu291=)
c.687T>A (p.Leu229=)
c.606T>A (p.Phe202Leu)
c.312T>A (p.Leu104=)
c.693T>A (p.Leu231=)
2g.48688850C>ACA346750551GTF2A1L,LHCGR,STON1-GTF2A1Lc.948-1G>T (n.948-1G>T)
c.948-711G>T (n.948-711G>T)
c.3441+17170C>A (n.3441+17170C>A)
c.948-267G>T (n.948-267G>T)
c.867-1G>T (n.867-1G>T)
c.276+17170C>A (n.276+17170C>A)
c.*220+5374G>T (n.*220+5374G>T)
c.-10-1G>T (n.-10-1G>T)
c.18-1G>T (n.18-1G>T)
c.873-1G>T (n.873-1G>T)
c.687-1G>T (n.687-1G>T)
c.606-1G>T (n.606-1G>T)
c.312-1G>T (n.312-1G>T)
c.693-1G>T (n.693-1G>T)
2g.48688850C=CA1248601301GTF2A1L,LHCGR,STON1-GTF2A1Lc.948-1G= (n.948-1G=)
c.948-711G= (n.948-711G=)
c.3441+17170C= (n.3441+17170C=)
c.948-267G= (n.948-267G=)
c.867-1G= (n.867-1G=)
c.276+17170C= (n.276+17170C=)
c.*220+5374G= (n.*220+5374G=)
c.-10-1G= (n.-10-1G=)
c.18-1G= (n.18-1G=)
c.873-1G= (n.873-1G=)
c.687-1G= (n.687-1G=)
c.606-1G= (n.606-1G=)
c.312-1G= (n.312-1G=)
c.693-1G= (n.693-1G=)
2g.48688850C>GCA346750554GTF2A1L,LHCGR,STON1-GTF2A1Lc.948-1G>C (n.948-1G>C)
c.948-711G>C (n.948-711G>C)
c.3441+17170C>G (n.3441+17170C>G)
c.948-267G>C (n.948-267G>C)
c.867-1G>C (n.867-1G>C)
c.276+17170C>G (n.276+17170C>G)
c.*220+5374G>C (n.*220+5374G>C)
c.-10-1G>C (n.-10-1G>C)
c.18-1G>C (n.18-1G>C)
c.873-1G>C (n.873-1G>C)
c.687-1G>C (n.687-1G>C)
c.606-1G>C (n.606-1G>C)
c.312-1G>C (n.312-1G>C)
c.693-1G>C (n.693-1G>C)
2g.48688850C>TCA1653108GTF2A1L,LHCGR,STON1-GTF2A1Lc.948-1G>A (n.948-1G>A)
c.948-711G>A (n.948-711G>A)
c.3441+17170C>T (n.3441+17170C>T)
c.948-267G>A (n.948-267G>A)
c.867-1G>A (n.867-1G>A)
c.276+17170C>T (n.276+17170C>T)
c.*220+5374G>A (n.*220+5374G>A)
c.-10-1G>A (n.-10-1G>A)
c.18-1G>A (n.18-1G>A)
c.873-1G>A (n.873-1G>A)
c.687-1G>A (n.687-1G>A)
c.606-1G>A (n.606-1G>A)
c.312-1G>A (n.312-1G>A)
c.693-1G>A (n.693-1G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688851T>ACA346750558GTF2A1L,LHCGR,STON1-GTF2A1Lc.948-2A>T (n.948-2A>T)
c.948-712A>T (n.948-712A>T)
c.3441+17171T>A (n.3441+17171T>A)
c.948-268A>T (n.948-268A>T)
c.867-2A>T (n.867-2A>T)
c.276+17171T>A (n.276+17171T>A)
c.*220+5373A>T (n.*220+5373A>T)
c.-10-2A>T (n.-10-2A>T)
c.18-2A>T (n.18-2A>T)
c.873-2A>T (n.873-2A>T)
c.687-2A>T (n.687-2A>T)
c.606-2A>T (n.606-2A>T)
c.312-2A>T (n.312-2A>T)
c.693-2A>T (n.693-2A>T)
2g.48688851T>CCA346750560GTF2A1L,LHCGR,STON1-GTF2A1Lc.948-2A>G (n.948-2A>G)
c.948-712A>G (n.948-712A>G)
c.3441+17171T>C (n.3441+17171T>C)
c.948-268A>G (n.948-268A>G)
c.867-2A>G (n.867-2A>G)
c.276+17171T>C (n.276+17171T>C)
c.*220+5373A>G (n.*220+5373A>G)
c.-10-2A>G (n.-10-2A>G)
c.18-2A>G (n.18-2A>G)
c.873-2A>G (n.873-2A>G)
c.687-2A>G (n.687-2A>G)
c.606-2A>G (n.606-2A>G)
c.312-2A>G (n.312-2A>G)
c.693-2A>G (n.693-2A>G)
2g.48688851T>GCA346750561GTF2A1L,LHCGR,STON1-GTF2A1Lc.948-2A>C (n.948-2A>C)
c.948-712A>C (n.948-712A>C)
c.3441+17171T>G (n.3441+17171T>G)
c.948-268A>C (n.948-268A>C)
c.867-2A>C (n.867-2A>C)
c.276+17171T>G (n.276+17171T>G)
c.*220+5373A>C (n.*220+5373A>C)
c.-10-2A>C (n.-10-2A>C)
c.18-2A>C (n.18-2A>C)
c.873-2A>C (n.873-2A>C)
c.687-2A>C (n.687-2A>C)
c.606-2A>C (n.606-2A>C)
c.312-2A>C (n.312-2A>C)
c.693-2A>C (n.693-2A>C)
2g.48688852_48688853delCA2658992096GTF2A1L,LHCGR,STON1-GTF2A1Lc.948-3_948-2del (n.948-3_948-2del)
c.948-713_948-712del (n.948-713_948-712del)
c.3441+17172_3441+17173del (n.3441+17172_3441+17173del)
c.948-269_948-268del (n.948-269_948-268del)
c.867-3_867-2del (n.867-3_867-2del)
c.276+17172_276+17173del (n.276+17172_276+17173del)
c.*220+5372_*220+5373del (n.*220+5372_*220+5373del)
c.-10-3_-10-2del (n.-10-3_-10-2del)
c.18-3_18-2del (n.18-3_18-2del)
c.873-3_873-2del (n.873-3_873-2del)
c.687-3_687-2del (n.687-3_687-2del)
c.606-3_606-2del (n.606-3_606-2del)
c.312-3_312-2del (n.312-3_312-2del)
c.693-3_693-2del (n.693-3_693-2del)
 gnomAD v4
2g.48688852G>ACA46753513GTF2A1L,LHCGR,STON1-GTF2A1Lc.948-3C>T (n.948-3C>T)
c.948-713C>T (n.948-713C>T)
c.3441+17172G>A (n.3441+17172G>A)
c.948-269C>T (n.948-269C>T)
c.867-3C>T (n.867-3C>T)
c.276+17172G>A (n.276+17172G>A)
c.*220+5372C>T (n.*220+5372C>T)
c.-10-3C>T (n.-10-3C>T)
c.18-3C>T (n.18-3C>T)
c.873-3C>T (n.873-3C>T)
c.687-3C>T (n.687-3C>T)
c.606-3C>T (n.606-3C>T)
c.312-3C>T (n.312-3C>T)
c.693-3C>T (n.693-3C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688852G>CCA46753515GTF2A1L,LHCGR,STON1-GTF2A1Lc.948-3C>G (n.948-3C>G)
c.948-713C>G (n.948-713C>G)
c.3441+17172G>C (n.3441+17172G>C)
c.948-269C>G (n.948-269C>G)
c.867-3C>G (n.867-3C>G)
c.276+17172G>C (n.276+17172G>C)
c.*220+5372C>G (n.*220+5372C>G)
c.-10-3C>G (n.-10-3C>G)
c.18-3C>G (n.18-3C>G)
c.873-3C>G (n.873-3C>G)
c.687-3C>G (n.687-3C>G)
c.606-3C>G (n.606-3C>G)
c.312-3C>G (n.312-3C>G)
c.693-3C>G (n.693-3C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.48688852G=CA1248601302GTF2A1L,LHCGR,STON1-GTF2A1Lc.948-3C= (n.948-3C=)
c.948-713C= (n.948-713C=)
c.3441+17172G= (n.3441+17172G=)
c.948-269C= (n.948-269C=)
c.867-3C= (n.867-3C=)
c.276+17172G= (n.276+17172G=)
c.*220+5372C= (n.*220+5372C=)
c.-10-3C= (n.-10-3C=)
c.18-3C= (n.18-3C=)
c.873-3C= (n.873-3C=)
c.687-3C= (n.687-3C=)
c.606-3C= (n.606-3C=)
c.312-3C= (n.312-3C=)
c.693-3C= (n.693-3C=)
2g.48688853T>CCA769577678GTF2A1L,LHCGR,STON1-GTF2A1Lc.948-4A>G (n.948-4A>G)
c.948-714A>G (n.948-714A>G)
c.3441+17173T>C (n.3441+17173T>C)
c.948-270A>G (n.948-270A>G)
c.867-4A>G (n.867-4A>G)
c.276+17173T>C (n.276+17173T>C)
c.*220+5371A>G (n.*220+5371A>G)
c.-10-4A>G (n.-10-4A>G)
c.18-4A>G (n.18-4A>G)
c.873-4A>G (n.873-4A>G)
c.687-4A>G (n.687-4A>G)
c.606-4A>G (n.606-4A>G)
c.312-4A>G (n.312-4A>G)
c.693-4A>G (n.693-4A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.48688853T=CA1248601303GTF2A1L,LHCGR,STON1-GTF2A1Lc.948-4A= (n.948-4A=)
c.948-714A= (n.948-714A=)
c.3441+17173T= (n.3441+17173T=)
c.948-270A= (n.948-270A=)
c.867-4A= (n.867-4A=)
c.276+17173T= (n.276+17173T=)
c.*220+5371A= (n.*220+5371A=)
c.-10-4A= (n.-10-4A=)
c.18-4A= (n.18-4A=)
c.873-4A= (n.873-4A=)
c.687-4A= (n.687-4A=)
c.606-4A= (n.606-4A=)
c.312-4A= (n.312-4A=)
c.693-4A= (n.693-4A=)
2g.48688853_48688854insTCTTTTTGTTCTCCTGACCA1248601304GTF2A1L,LHCGR,STON1-GTF2A1Lc.948-5_948-4insGTCAGGAGAACAAAAAGA (n.948-5_948-4insGTCAGGAGAACAAAAAGA)
c.948-715_948-714insGTCAGGAGAACAAAAAGA (n.948-715_948-714insGTCAGGAGAACAAAAAGA)
c.3441+17173_3441+17174insTCTTTTTGTTCTCCTGAC (n.3441+17173_3441+17174insTCTTTTTGTTCTCCTGAC)
c.948-271_948-270insGTCAGGAGAACAAAAAGA (n.948-271_948-270insGTCAGGAGAACAAAAAGA)
c.867-5_867-4insGTCAGGAGAACAAAAAGA (n.867-5_867-4insGTCAGGAGAACAAAAAGA)
c.276+17173_276+17174insTCTTTTTGTTCTCCTGAC (n.276+17173_276+17174insTCTTTTTGTTCTCCTGAC)
c.*220+5370_*220+5371insGTCAGGAGAACAAAAAGA (n.*220+5370_*220+5371insGTCAGGAGAACAAAAAGA)
c.-10-5_-10-4insGTCAGGAGAACAAAAAGA (n.-10-5_-10-4insGTCAGGAGAACAAAAAGA)
c.18-5_18-4insGTCAGGAGAACAAAAAGA (n.18-5_18-4insGTCAGGAGAACAAAAAGA)
c.873-5_873-4insGTCAGGAGAACAAAAAGA (n.873-5_873-4insGTCAGGAGAACAAAAAGA)
c.687-5_687-4insGTCAGGAGAACAAAAAGA (n.687-5_687-4insGTCAGGAGAACAAAAAGA)
c.606-5_606-4insGTCAGGAGAACAAAAAGA (n.606-5_606-4insGTCAGGAGAACAAAAAGA)
c.312-5_312-4insGTCAGGAGAACAAAAAGA (n.312-5_312-4insGTCAGGAGAACAAAAAGA)
c.693-5_693-4insGTCAGGAGAACAAAAAGA (n.693-5_693-4insGTCAGGAGAACAAAAAGA)
 dbSNP
2g.48688859_48688861delCA2658992097GTF2A1L,LHCGR,STON1-GTF2A1Lc.948-7_948-5del (n.948-7_948-5del)
c.948-717_948-715del (n.948-717_948-715del)
c.3441+17179_3441+17181del (n.3441+17179_3441+17181del)
c.948-273_948-271del (n.948-273_948-271del)
c.867-7_867-5del (n.867-7_867-5del)
c.276+17179_276+17181del (n.276+17179_276+17181del)
c.*220+5368_*220+5370del (n.*220+5368_*220+5370del)
c.-10-7_-10-5del (n.-10-7_-10-5del)
c.18-7_18-5del (n.18-7_18-5del)
c.873-7_873-5del (n.873-7_873-5del)
c.687-7_687-5del (n.687-7_687-5del)
c.606-7_606-5del (n.606-7_606-5del)
c.312-7_312-5del (n.312-7_312-5del)
c.693-7_693-5del (n.693-7_693-5del)
 gnomAD v4

Number of alleles fetched