Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48688543A>CCA346748428GTF2A1L,LHCGR,STON1-GTF2A1Lc.1254T>G (p.Val418=)
c.948-404T>G (n.948-404T>G)
c.3441+16863A>C (n.3441+16863A>C)
c.988T>G (p.Ter330Gly)
c.1173T>G (p.Val391=)
c.276+16863A>C (n.276+16863A>C)
c.*220+5681T>G (n.*220+5681T>G)
c.297T>G (p.Val99=)
c.324T>G (p.Val108=)
c.1179T>G (p.Val393=)
c.993T>G (p.Val331=)
c.912T>G (p.Val304=)
c.618T>G (p.Val206=)
c.999T>G (p.Val333=)
2g.48688543A>GCA346748430GTF2A1L,LHCGR,STON1-GTF2A1Lc.1254T>C (p.Val418=)
c.948-404T>C (n.948-404T>C)
c.3441+16863A>G (n.3441+16863A>G)
c.988T>C (p.Ter330Arg)
c.1173T>C (p.Val391=)
c.276+16863A>G (n.276+16863A>G)
c.*220+5681T>C (n.*220+5681T>C)
c.297T>C (p.Val99=)
c.324T>C (p.Val108=)
c.1179T>C (p.Val393=)
c.993T>C (p.Val331=)
c.912T>C (p.Val304=)
c.618T>C (p.Val206=)
c.999T>C (p.Val333=)
2g.48688543A>TCA346748432GTF2A1L,LHCGR,STON1-GTF2A1Lc.1254T>A (p.Val418=)
c.948-404T>A (n.948-404T>A)
c.3441+16863A>T (n.3441+16863A>T)
c.988T>A (p.Ter330Arg)
c.1173T>A (p.Val391=)
c.276+16863A>T (n.276+16863A>T)
c.*220+5681T>A (n.*220+5681T>A)
c.297T>A (p.Val99=)
c.324T>A (p.Val108=)
c.1179T>A (p.Val393=)
c.993T>A (p.Val331=)
c.912T>A (p.Val304=)
c.618T>A (p.Val206=)
c.999T>A (p.Val333=)
2g.48688544A=CA1248601179GTF2A1L,LHCGR,STON1-GTF2A1Lc.1253T= (p.Val418=)
c.948-405T= (n.948-405T=)
c.3441+16864A= (n.3441+16864A=)
c.987T= (p.Ser329=)
c.1172T= (p.Val391=)
c.276+16864A= (n.276+16864A=)
c.*220+5680T= (n.*220+5680T=)
c.296T= (p.Val99=)
c.323T= (p.Val108=)
c.1178T= (p.Val393=)
c.992T= (p.Val331=)
c.911T= (p.Val304=)
c.617T= (p.Val206=)
c.998T= (p.Val333=)
2g.48688544A>CCA1653058GTF2A1L,LHCGR,STON1-GTF2A1Lc.1253T>G (p.Val418Gly)
c.948-405T>G (n.948-405T>G)
c.3441+16864A>C (n.3441+16864A>C)
c.987T>G (p.Ser329Arg)
c.1172T>G (p.Val391Gly)
c.276+16864A>C (n.276+16864A>C)
c.*220+5680T>G (n.*220+5680T>G)
c.296T>G (p.Val99Gly)
c.323T>G (p.Val108Gly)
c.1178T>G (p.Val393Gly)
c.992T>G (p.Val331Gly)
c.911T>G (p.Val304Gly)
c.617T>G (p.Val206Gly)
c.998T>G (p.Val333Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688544A>GCA46753116GTF2A1L,LHCGR,STON1-GTF2A1Lc.1253T>C (p.Val418Ala)
c.948-405T>C (n.948-405T>C)
c.3441+16864A>G (n.3441+16864A>G)
c.987T>C (p.Ser329=)
c.1172T>C (p.Val391Ala)
c.276+16864A>G (n.276+16864A>G)
c.*220+5680T>C (n.*220+5680T>C)
c.296T>C (p.Val99Ala)
c.323T>C (p.Val108Ala)
c.1178T>C (p.Val393Ala)
c.992T>C (p.Val331Ala)
c.911T>C (p.Val304Ala)
c.617T>C (p.Val206Ala)
c.998T>C (p.Val333Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688544A>TCA346748436GTF2A1L,LHCGR,STON1-GTF2A1Lc.1253T>A (p.Val418Asp)
c.948-405T>A (n.948-405T>A)
c.3441+16864A>T (n.3441+16864A>T)
c.987T>A (p.Ser329Arg)
c.1172T>A (p.Val391Asp)
c.276+16864A>T (n.276+16864A>T)
c.*220+5680T>A (n.*220+5680T>A)
c.296T>A (p.Val99Asp)
c.323T>A (p.Val108Asp)
c.1178T>A (p.Val393Asp)
c.992T>A (p.Val331Asp)
c.911T>A (p.Val304Asp)
c.617T>A (p.Val206Asp)
c.998T>A (p.Val333Asp)
2g.48688545C>ACA346748438GTF2A1L,LHCGR,STON1-GTF2A1Lc.1252G>T (p.Val418Phe)
c.948-406G>T (n.948-406G>T)
c.3441+16865C>A (n.3441+16865C>A)
c.986G>T (p.Ser329Ile)
c.1171G>T (p.Val391Phe)
c.276+16865C>A (n.276+16865C>A)
c.*220+5679G>T (n.*220+5679G>T)
c.295G>T (p.Val99Phe)
c.322G>T (p.Val108Phe)
c.1177G>T (p.Val393Phe)
c.991G>T (p.Val331Phe)
c.910G>T (p.Val304Phe)
c.616G>T (p.Val206Phe)
c.997G>T (p.Val333Phe)
 dbSNP
2g.48688545C=CA1248601180GTF2A1L,LHCGR,STON1-GTF2A1Lc.1252G= (p.Val418=)
c.948-406G= (n.948-406G=)
c.3441+16865C= (n.3441+16865C=)
c.986G= (p.Ser329=)
c.1171G= (p.Val391=)
c.276+16865C= (n.276+16865C=)
c.*220+5679G= (n.*220+5679G=)
c.295G= (p.Val99=)
c.322G= (p.Val108=)
c.1177G= (p.Val393=)
c.991G= (p.Val331=)
c.910G= (p.Val304=)
c.616G= (p.Val206=)
c.997G= (p.Val333=)
2g.48688545C>GCA346748440GTF2A1L,LHCGR,STON1-GTF2A1Lc.1252G>C (p.Val418Leu)
c.948-406G>C (n.948-406G>C)
c.3441+16865C>G (n.3441+16865C>G)
c.986G>C (p.Ser329Thr)
c.1171G>C (p.Val391Leu)
c.276+16865C>G (n.276+16865C>G)
c.*220+5679G>C (n.*220+5679G>C)
c.295G>C (p.Val99Leu)
c.322G>C (p.Val108Leu)
c.1177G>C (p.Val393Leu)
c.991G>C (p.Val331Leu)
c.910G>C (p.Val304Leu)
c.616G>C (p.Val206Leu)
c.997G>C (p.Val333Leu)
2g.48688545C>TCA346748441GTF2A1L,LHCGR,STON1-GTF2A1Lc.1252G>A (p.Val418Ile)
c.948-406G>A (n.948-406G>A)
c.3441+16865C>T (n.3441+16865C>T)
c.986G>A (p.Ser329Asn)
c.1171G>A (p.Val391Ile)
c.276+16865C>T (n.276+16865C>T)
c.*220+5679G>A (n.*220+5679G>A)
c.295G>A (p.Val99Ile)
c.322G>A (p.Val108Ile)
c.1177G>A (p.Val393Ile)
c.991G>A (p.Val331Ile)
c.910G>A (p.Val304Ile)
c.616G>A (p.Val206Ile)
c.997G>A (p.Val333Ile)
 gnomAD v4
2g.48688546T>ACA346748444GTF2A1L,LHCGR,STON1-GTF2A1Lc.1251A>T (p.Ser417=)
c.948-407A>T (n.948-407A>T)
c.3441+16866T>A (n.3441+16866T>A)
c.985A>T (p.Ser329Cys)
c.1170A>T (p.Ser390=)
c.276+16866T>A (n.276+16866T>A)
c.*220+5678A>T (n.*220+5678A>T)
c.294A>T (p.Ser98=)
c.321A>T (p.Ser107=)
c.1176A>T (p.Ser392=)
c.990A>T (p.Ser330=)
c.909A>T (p.Ser303=)
c.615A>T (p.Ser205=)
c.996A>T (p.Ser332=)
2g.48688546T>CCA346748446GTF2A1L,LHCGR,STON1-GTF2A1Lc.1251A>G (p.Ser417=)
c.948-407A>G (n.948-407A>G)
c.3441+16866T>C (n.3441+16866T>C)
c.985A>G (p.Ser329Gly)
c.1170A>G (p.Ser390=)
c.276+16866T>C (n.276+16866T>C)
c.*220+5678A>G (n.*220+5678A>G)
c.294A>G (p.Ser98=)
c.321A>G (p.Ser107=)
c.1176A>G (p.Ser392=)
c.990A>G (p.Ser330=)
c.909A>G (p.Ser303=)
c.615A>G (p.Ser205=)
c.996A>G (p.Ser332=)
2g.48688546T>GCA346748449GTF2A1L,LHCGR,STON1-GTF2A1Lc.1251A>C (p.Ser417=)
c.948-407A>C (n.948-407A>C)
c.3441+16866T>G (n.3441+16866T>G)
c.985A>C (p.Ser329Arg)
c.1170A>C (p.Ser390=)
c.276+16866T>G (n.276+16866T>G)
c.*220+5678A>C (n.*220+5678A>C)
c.294A>C (p.Ser98=)
c.321A>C (p.Ser107=)
c.1176A>C (p.Ser392=)
c.990A>C (p.Ser330=)
c.909A>C (p.Ser303=)
c.615A>C (p.Ser205=)
c.996A>C (p.Ser332=)
 dbSNP gnomAD v3 gnomAD v4
2g.48688546T=CA1248601181GTF2A1L,LHCGR,STON1-GTF2A1Lc.1251A= (p.Ser417=)
c.948-407A= (n.948-407A=)
c.3441+16866T= (n.3441+16866T=)
c.985A= (p.Ser329=)
c.1170A= (p.Ser390=)
c.276+16866T= (n.276+16866T=)
c.*220+5678A= (n.*220+5678A=)
c.294A= (p.Ser98=)
c.321A= (p.Ser107=)
c.1176A= (p.Ser392=)
c.990A= (p.Ser330=)
c.909A= (p.Ser303=)
c.615A= (p.Ser205=)
c.996A= (p.Ser332=)
2g.48688547G>ACA346748455GTF2A1L,LHCGR,STON1-GTF2A1Lc.1250C>T (p.Ser417Leu)
c.948-408C>T (n.948-408C>T)
c.3441+16867G>A (n.3441+16867G>A)
c.984C>T (p.Leu328=)
c.1169C>T (p.Ser390Leu)
c.276+16867G>A (n.276+16867G>A)
c.*220+5677C>T (n.*220+5677C>T)
c.293C>T (p.Ser98Leu)
c.320C>T (p.Ser107Leu)
c.1175C>T (p.Ser392Leu)
c.989C>T (p.Ser330Leu)
c.908C>T (p.Ser303Leu)
c.614C>T (p.Ser205Leu)
c.995C>T (p.Ser332Leu)
2g.48688547G>CCA346748453GTF2A1L,LHCGR,STON1-GTF2A1Lc.1250C>G (p.Ser417Ter)
c.948-408C>G (n.948-408C>G)
c.3441+16867G>C (n.3441+16867G>C)
c.984C>G (p.Leu328=)
c.1169C>G (p.Ser390Ter)
c.276+16867G>C (n.276+16867G>C)
c.*220+5677C>G (n.*220+5677C>G)
c.293C>G (p.Ser98Ter)
c.320C>G (p.Ser107Ter)
c.1175C>G (p.Ser392Ter)
c.989C>G (p.Ser330Ter)
c.908C>G (p.Ser303Ter)
c.614C>G (p.Ser205Ter)
c.995C>G (p.Ser332Ter)
2g.48688547G>TCA346748452GTF2A1L,LHCGR,STON1-GTF2A1Lc.1250C>A (p.Ser417Ter)
c.948-408C>A (n.948-408C>A)
c.3441+16867G>T (n.3441+16867G>T)
c.984C>A (p.Leu328=)
c.1169C>A (p.Ser390Ter)
c.276+16867G>T (n.276+16867G>T)
c.*220+5677C>A (n.*220+5677C>A)
c.293C>A (p.Ser98Ter)
c.320C>A (p.Ser107Ter)
c.1175C>A (p.Ser392Ter)
c.989C>A (p.Ser330Ter)
c.908C>A (p.Ser303Ter)
c.614C>A (p.Ser205Ter)
c.995C>A (p.Ser332Ter)
2g.48688548A=CA1248601182GTF2A1L,LHCGR,STON1-GTF2A1Lc.1249T= (p.Ser417=)
c.948-409T= (n.948-409T=)
c.3441+16868A= (n.3441+16868A=)
c.983T= (p.Leu328=)
c.1168T= (p.Ser390=)
c.276+16868A= (n.276+16868A=)
c.*220+5676T= (n.*220+5676T=)
c.292T= (p.Ser98=)
c.319T= (p.Ser107=)
c.1174T= (p.Ser392=)
c.988T= (p.Ser330=)
c.907T= (p.Ser303=)
c.613T= (p.Ser205=)
c.994T= (p.Ser332=)
2g.48688548A>CCA346748458GTF2A1L,LHCGR,STON1-GTF2A1Lc.1249T>G (p.Ser417Ala)
c.948-409T>G (n.948-409T>G)
c.3441+16868A>C (n.3441+16868A>C)
c.983T>G (p.Leu328Arg)
c.1168T>G (p.Ser390Ala)
c.276+16868A>C (n.276+16868A>C)
c.*220+5676T>G (n.*220+5676T>G)
c.292T>G (p.Ser98Ala)
c.319T>G (p.Ser107Ala)
c.1174T>G (p.Ser392Ala)
c.988T>G (p.Ser330Ala)
c.907T>G (p.Ser303Ala)
c.613T>G (p.Ser205Ala)
c.994T>G (p.Ser332Ala)
2g.48688548A>GCA46753120GTF2A1L,LHCGR,STON1-GTF2A1Lc.1249T>C (p.Ser417Pro)
c.948-409T>C (n.948-409T>C)
c.3441+16868A>G (n.3441+16868A>G)
c.983T>C (p.Leu328Pro)
c.1168T>C (p.Ser390Pro)
c.276+16868A>G (n.276+16868A>G)
c.*220+5676T>C (n.*220+5676T>C)
c.292T>C (p.Ser98Pro)
c.319T>C (p.Ser107Pro)
c.1174T>C (p.Ser392Pro)
c.988T>C (p.Ser330Pro)
c.907T>C (p.Ser303Pro)
c.613T>C (p.Ser205Pro)
c.994T>C (p.Ser332Pro)
 dbSNP
2g.48688548A>TCA346748461GTF2A1L,LHCGR,STON1-GTF2A1Lc.1249T>A (p.Ser417Thr)
c.948-409T>A (n.948-409T>A)
c.3441+16868A>T (n.3441+16868A>T)
c.983T>A (p.Leu328His)
c.1168T>A (p.Ser390Thr)
c.276+16868A>T (n.276+16868A>T)
c.*220+5676T>A (n.*220+5676T>A)
c.292T>A (p.Ser98Thr)
c.319T>A (p.Ser107Thr)
c.1174T>A (p.Ser392Thr)
c.988T>A (p.Ser330Thr)
c.907T>A (p.Ser303Thr)
c.613T>A (p.Ser205Thr)
c.994T>A (p.Ser332Thr)
2g.48688549G>ACA346748463GTF2A1L,LHCGR,STON1-GTF2A1Lc.1248C>T (p.Ala416=)
c.948-410C>T (n.948-410C>T)
c.3441+16869G>A (n.3441+16869G>A)
c.982C>T (p.Leu328Phe)
c.1167C>T (p.Ala389=)
c.276+16869G>A (n.276+16869G>A)
c.*220+5675C>T (n.*220+5675C>T)
c.291C>T (p.Ala97=)
c.318C>T (p.Ala106=)
c.1173C>T (p.Ala391=)
c.987C>T (p.Ala329=)
c.906C>T (p.Ala302=)
c.612C>T (p.Ala204=)
c.993C>T (p.Ala331=)
2g.48688549G>CCA346748465GTF2A1L,LHCGR,STON1-GTF2A1Lc.1248C>G (p.Ala416=)
c.948-410C>G (n.948-410C>G)
c.3441+16869G>C (n.3441+16869G>C)
c.982C>G (p.Leu328Val)
c.1167C>G (p.Ala389=)
c.276+16869G>C (n.276+16869G>C)
c.*220+5675C>G (n.*220+5675C>G)
c.291C>G (p.Ala97=)
c.318C>G (p.Ala106=)
c.1173C>G (p.Ala391=)
c.987C>G (p.Ala329=)
c.906C>G (p.Ala302=)
c.612C>G (p.Ala204=)
c.993C>G (p.Ala331=)
2g.48688549G=CA1248601183GTF2A1L,LHCGR,STON1-GTF2A1Lc.1248C= (p.Ala416=)
c.948-410C= (n.948-410C=)
c.3441+16869G= (n.3441+16869G=)
c.982C= (p.Leu328=)
c.1167C= (p.Ala389=)
c.276+16869G= (n.276+16869G=)
c.*220+5675C= (n.*220+5675C=)
c.291C= (p.Ala97=)
c.318C= (p.Ala106=)
c.1173C= (p.Ala391=)
c.987C= (p.Ala329=)
c.906C= (p.Ala302=)
c.612C= (p.Ala204=)
c.993C= (p.Ala331=)
2g.48688549G>TCA346748467GTF2A1L,LHCGR,STON1-GTF2A1Lc.1248C>A (p.Ala416=)
c.948-410C>A (n.948-410C>A)
c.3441+16869G>T (n.3441+16869G>T)
c.982C>A (p.Leu328Ile)
c.1167C>A (p.Ala389=)
c.276+16869G>T (n.276+16869G>T)
c.*220+5675C>A (n.*220+5675C>A)
c.291C>A (p.Ala97=)
c.318C>A (p.Ala106=)
c.1173C>A (p.Ala391=)
c.987C>A (p.Ala329=)
c.906C>A (p.Ala302=)
c.612C>A (p.Ala204=)
c.993C>A (p.Ala331=)
 dbSNP gnomAD v2 gnomAD v4
2g.48688550G>ACA346748469GTF2A1L,LHCGR,STON1-GTF2A1Lc.1247C>T (p.Ala416Val)
c.948-411C>T (n.948-411C>T)
c.3441+16870G>A (n.3441+16870G>A)
c.981C>T (p.Ser327=)
c.1166C>T (p.Ala389Val)
c.276+16870G>A (n.276+16870G>A)
c.*220+5674C>T (n.*220+5674C>T)
c.290C>T (p.Ala97Val)
c.317C>T (p.Ala106Val)
c.1172C>T (p.Ala391Val)
c.986C>T (p.Ala329Val)
c.905C>T (p.Ala302Val)
c.611C>T (p.Ala204Val)
c.992C>T (p.Ala331Val)
2g.48688550G>CCA346748470GTF2A1L,LHCGR,STON1-GTF2A1Lc.1247C>G (p.Ala416Gly)
c.948-411C>G (n.948-411C>G)
c.3441+16870G>C (n.3441+16870G>C)
c.981C>G (p.Ser327Arg)
c.1166C>G (p.Ala389Gly)
c.276+16870G>C (n.276+16870G>C)
c.*220+5674C>G (n.*220+5674C>G)
c.290C>G (p.Ala97Gly)
c.317C>G (p.Ala106Gly)
c.1172C>G (p.Ala391Gly)
c.986C>G (p.Ala329Gly)
c.905C>G (p.Ala302Gly)
c.611C>G (p.Ala204Gly)
c.992C>G (p.Ala331Gly)
2g.48688550G>TCA346748471GTF2A1L,LHCGR,STON1-GTF2A1Lc.1247C>A (p.Ala416Asp)
c.948-411C>A (n.948-411C>A)
c.3441+16870G>T (n.3441+16870G>T)
c.981C>A (p.Ser327Arg)
c.1166C>A (p.Ala389Asp)
c.276+16870G>T (n.276+16870G>T)
c.*220+5674C>A (n.*220+5674C>A)
c.290C>A (p.Ala97Asp)
c.317C>A (p.Ala106Asp)
c.1172C>A (p.Ala391Asp)
c.986C>A (p.Ala329Asp)
c.905C>A (p.Ala302Asp)
c.611C>A (p.Ala204Asp)
c.992C>A (p.Ala331Asp)
2g.48688551C>ACA346748473GTF2A1L,LHCGR,STON1-GTF2A1Lc.1246G>T (p.Ala416Ser)
c.948-412G>T (n.948-412G>T)
c.3441+16871C>A (n.3441+16871C>A)
c.980G>T (p.Ser327Ile)
c.1165G>T (p.Ala389Ser)
c.276+16871C>A (n.276+16871C>A)
c.*220+5673G>T (n.*220+5673G>T)
c.289G>T (p.Ala97Ser)
c.316G>T (p.Ala106Ser)
c.1171G>T (p.Ala391Ser)
c.985G>T (p.Ala329Ser)
c.904G>T (p.Ala302Ser)
c.610G>T (p.Ala204Ser)
c.991G>T (p.Ala331Ser)
2g.48688551C>GCA346748475GTF2A1L,LHCGR,STON1-GTF2A1Lc.1246G>C (p.Ala416Pro)
c.948-412G>C (n.948-412G>C)
c.3441+16871C>G (n.3441+16871C>G)
c.980G>C (p.Ser327Thr)
c.1165G>C (p.Ala389Pro)
c.276+16871C>G (n.276+16871C>G)
c.*220+5673G>C (n.*220+5673G>C)
c.289G>C (p.Ala97Pro)
c.316G>C (p.Ala106Pro)
c.1171G>C (p.Ala391Pro)
c.985G>C (p.Ala329Pro)
c.904G>C (p.Ala302Pro)
c.610G>C (p.Ala204Pro)
c.991G>C (p.Ala331Pro)
 gnomAD v4
2g.48688551C>TCA346748477GTF2A1L,LHCGR,STON1-GTF2A1Lc.1246G>A (p.Ala416Thr)
c.948-412G>A (n.948-412G>A)
c.3441+16871C>T (n.3441+16871C>T)
c.980G>A (p.Ser327Asn)
c.1165G>A (p.Ala389Thr)
c.276+16871C>T (n.276+16871C>T)
c.*220+5673G>A (n.*220+5673G>A)
c.289G>A (p.Ala97Thr)
c.316G>A (p.Ala106Thr)
c.1171G>A (p.Ala391Thr)
c.985G>A (p.Ala329Thr)
c.904G>A (p.Ala302Thr)
c.610G>A (p.Ala204Thr)
c.991G>A (p.Ala331Thr)
2g.48688552T>ACA346748483GTF2A1L,LHCGR,STON1-GTF2A1Lc.1245A>T (p.Ile415=)
c.948-413A>T (n.948-413A>T)
c.3441+16872T>A (n.3441+16872T>A)
c.979A>T (p.Ser327Cys)
c.1164A>T (p.Ile388=)
c.276+16872T>A (n.276+16872T>A)
c.*220+5672A>T (n.*220+5672A>T)
c.288A>T (p.Ile96=)
c.315A>T (p.Ile105=)
c.1170A>T (p.Ile390=)
c.984A>T (p.Ile328=)
c.903A>T (p.Ile301=)
c.609A>T (p.Ile203=)
c.990A>T (p.Ile330=)
2g.48688552T>CCA346748481GTF2A1L,LHCGR,STON1-GTF2A1Lc.1245A>G (p.Ile415Met)
c.948-413A>G (n.948-413A>G)
c.3441+16872T>C (n.3441+16872T>C)
c.979A>G (p.Ser327Gly)
c.1164A>G (p.Ile388Met)
c.276+16872T>C (n.276+16872T>C)
c.*220+5672A>G (n.*220+5672A>G)
c.288A>G (p.Ile96Met)
c.315A>G (p.Ile105Met)
c.1170A>G (p.Ile390Met)
c.984A>G (p.Ile328Met)
c.903A>G (p.Ile301Met)
c.609A>G (p.Ile203Met)
c.990A>G (p.Ile330Met)
2g.48688552T>GCA346748479GTF2A1L,LHCGR,STON1-GTF2A1Lc.1245A>C (p.Ile415=)
c.948-413A>C (n.948-413A>C)
c.3441+16872T>G (n.3441+16872T>G)
c.979A>C (p.Ser327Arg)
c.1164A>C (p.Ile388=)
c.276+16872T>G (n.276+16872T>G)
c.*220+5672A>C (n.*220+5672A>C)
c.288A>C (p.Ile96=)
c.315A>C (p.Ile105=)
c.1170A>C (p.Ile390=)
c.984A>C (p.Ile328=)
c.903A>C (p.Ile301=)
c.609A>C (p.Ile203=)
c.990A>C (p.Ile330=)
2g.48688553A=CA1248601184GTF2A1L,LHCGR,STON1-GTF2A1Lc.1244T= (p.Ile415=)
c.948-414T= (n.948-414T=)
c.3441+16873A= (n.3441+16873A=)
c.978T= (p.His326=)
c.1163T= (p.Ile388=)
c.276+16873A= (n.276+16873A=)
c.*220+5671T= (n.*220+5671T=)
c.287T= (p.Ile96=)
c.314T= (p.Ile105=)
c.1169T= (p.Ile390=)
c.983T= (p.Ile328=)
c.902T= (p.Ile301=)
c.608T= (p.Ile203=)
c.989T= (p.Ile330=)
2g.48688553A>CCA346748484GTF2A1L,LHCGR,STON1-GTF2A1Lc.1244T>G (p.Ile415Arg)
c.948-414T>G (n.948-414T>G)
c.3441+16873A>C (n.3441+16873A>C)
c.978T>G (p.His326Gln)
c.1163T>G (p.Ile388Arg)
c.276+16873A>C (n.276+16873A>C)
c.*220+5671T>G (n.*220+5671T>G)
c.287T>G (p.Ile96Arg)
c.314T>G (p.Ile105Arg)
c.1169T>G (p.Ile390Arg)
c.983T>G (p.Ile328Arg)
c.902T>G (p.Ile301Arg)
c.608T>G (p.Ile203Arg)
c.989T>G (p.Ile330Arg)
2g.48688553A>GCA346748485GTF2A1L,LHCGR,STON1-GTF2A1Lc.1244T>C (p.Ile415Thr)
c.948-414T>C (n.948-414T>C)
c.3441+16873A>G (n.3441+16873A>G)
c.978T>C (p.His326=)
c.1163T>C (p.Ile388Thr)
c.276+16873A>G (n.276+16873A>G)
c.*220+5671T>C (n.*220+5671T>C)
c.287T>C (p.Ile96Thr)
c.314T>C (p.Ile105Thr)
c.1169T>C (p.Ile390Thr)
c.983T>C (p.Ile328Thr)
c.902T>C (p.Ile301Thr)
c.608T>C (p.Ile203Thr)
c.989T>C (p.Ile330Thr)
2g.48688553A>TCA346748487GTF2A1L,LHCGR,STON1-GTF2A1Lc.1244T>A (p.Ile415Lys)
c.948-414T>A (n.948-414T>A)
c.3441+16873A>T (n.3441+16873A>T)
c.978T>A (p.His326Gln)
c.1163T>A (p.Ile388Lys)
c.276+16873A>T (n.276+16873A>T)
c.*220+5671T>A (n.*220+5671T>A)
c.287T>A (p.Ile96Lys)
c.314T>A (p.Ile105Lys)
c.1169T>A (p.Ile390Lys)
c.983T>A (p.Ile328Lys)
c.902T>A (p.Ile301Lys)
c.608T>A (p.Ile203Lys)
c.989T>A (p.Ile330Lys)
2g.48688554T>ACA346748489GTF2A1L,LHCGR,STON1-GTF2A1Lc.1243A>T (p.Ile415Leu)
c.948-415A>T (n.948-415A>T)
c.3441+16874T>A (n.3441+16874T>A)
c.977A>T (p.His326Leu)
c.1162A>T (p.Ile388Leu)
c.276+16874T>A (n.276+16874T>A)
c.*220+5670A>T (n.*220+5670A>T)
c.286A>T (p.Ile96Leu)
c.313A>T (p.Ile105Leu)
c.1168A>T (p.Ile390Leu)
c.982A>T (p.Ile328Leu)
c.901A>T (p.Ile301Leu)
c.607A>T (p.Ile203Leu)
c.988A>T (p.Ile330Leu)
2g.48688554T>CCA346748492GTF2A1L,LHCGR,STON1-GTF2A1Lc.1243A>G (p.Ile415Val)
c.948-415A>G (n.948-415A>G)
c.3441+16874T>C (n.3441+16874T>C)
c.977A>G (p.His326Arg)
c.1162A>G (p.Ile388Val)
c.276+16874T>C (n.276+16874T>C)
c.*220+5670A>G (n.*220+5670A>G)
c.286A>G (p.Ile96Val)
c.313A>G (p.Ile105Val)
c.1168A>G (p.Ile390Val)
c.982A>G (p.Ile328Val)
c.901A>G (p.Ile301Val)
c.607A>G (p.Ile203Val)
c.988A>G (p.Ile330Val)
2g.48688554T>GCA346748494GTF2A1L,LHCGR,STON1-GTF2A1Lc.1243A>C (p.Ile415Leu)
c.948-415A>C (n.948-415A>C)
c.3441+16874T>G (n.3441+16874T>G)
c.977A>C (p.His326Pro)
c.1162A>C (p.Ile388Leu)
c.276+16874T>G (n.276+16874T>G)
c.*220+5670A>C (n.*220+5670A>C)
c.286A>C (p.Ile96Leu)
c.313A>C (p.Ile105Leu)
c.1168A>C (p.Ile390Leu)
c.982A>C (p.Ile328Leu)
c.901A>C (p.Ile301Leu)
c.607A>C (p.Ile203Leu)
c.988A>C (p.Ile330Leu)
2g.48688556_48688600dupCA1248601185GTF2A1L,LHCGR,STON1-GTF2A1Lc.1199_1243dup (p.Leu414_Ile415insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
c.948-459_948-415dup (n.948-459_948-415dup)
c.3441+16876_3441+16920dup (n.3441+16876_3441+16920dup)
c.948-15_977dup
c.1118_1162dup (p.Leu387_Ile388insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
c.276+16876_276+16920dup (n.276+16876_276+16920dup)
c.*220+5626_*220+5670dup (n.*220+5626_*220+5670dup)
c.242_286dup (p.Leu95_Ile96insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
c.269_313dup (p.Leu104_Ile105insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
c.1124_1168dup (p.Leu389_Ile390insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
c.938_982dup (p.Leu327_Ile328insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
c.857_901dup (p.Leu300_Ile301insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
c.563_607dup (p.Leu202_Ile203insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
c.944_988dup (p.Leu329_Ile330insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
 dbSNP
2g.48688555G>ACA346748502GTF2A1L,LHCGR,STON1-GTF2A1Lc.1242C>T (p.Leu414=)
c.948-416C>T (n.948-416C>T)
c.3441+16875G>A (n.3441+16875G>A)
c.976C>T (p.His326Tyr)
c.1161C>T (p.Leu387=)
c.276+16875G>A (n.276+16875G>A)
c.*220+5669C>T (n.*220+5669C>T)
c.285C>T (p.Leu95=)
c.312C>T (p.Leu104=)
c.1167C>T (p.Leu389=)
c.981C>T (p.Leu327=)
c.900C>T (p.Leu300=)
c.606C>T (p.Leu202=)
c.987C>T (p.Leu329=)
2g.48688555G>CCA346748500GTF2A1L,LHCGR,STON1-GTF2A1Lc.1242C>G (p.Leu414=)
c.948-416C>G (n.948-416C>G)
c.3441+16875G>C (n.3441+16875G>C)
c.976C>G (p.His326Asp)
c.1161C>G (p.Leu387=)
c.276+16875G>C (n.276+16875G>C)
c.*220+5669C>G (n.*220+5669C>G)
c.285C>G (p.Leu95=)
c.312C>G (p.Leu104=)
c.1167C>G (p.Leu389=)
c.981C>G (p.Leu327=)
c.900C>G (p.Leu300=)
c.606C>G (p.Leu202=)
c.987C>G (p.Leu329=)
2g.48688555G>TCA346748498GTF2A1L,LHCGR,STON1-GTF2A1Lc.1242C>A (p.Leu414=)
c.948-416C>A (n.948-416C>A)
c.3441+16875G>T (n.3441+16875G>T)
c.976C>A (p.His326Asn)
c.1161C>A (p.Leu387=)
c.276+16875G>T (n.276+16875G>T)
c.*220+5669C>A (n.*220+5669C>A)
c.285C>A (p.Leu95=)
c.312C>A (p.Leu104=)
c.1167C>A (p.Leu389=)
c.981C>A (p.Leu327=)
c.900C>A (p.Leu300=)
c.606C>A (p.Leu202=)
c.987C>A (p.Leu329=)
 dbSNP
2g.48688556A>CCA346748504GTF2A1L,LHCGR,STON1-GTF2A1Lc.1241T>G (p.Leu414Arg)
c.948-417T>G (n.948-417T>G)
c.3441+16876A>C (n.3441+16876A>C)
c.975T>G (p.Ala325=)
c.1160T>G (p.Leu387Arg)
c.276+16876A>C (n.276+16876A>C)
c.*220+5668T>G (n.*220+5668T>G)
c.284T>G (p.Leu95Arg)
c.311T>G (p.Leu104Arg)
c.1166T>G (p.Leu389Arg)
c.980T>G (p.Leu327Arg)
c.899T>G (p.Leu300Arg)
c.605T>G (p.Leu202Arg)
c.986T>G (p.Leu329Arg)
2g.48688556A>GCA346748507GTF2A1L,LHCGR,STON1-GTF2A1Lc.1241T>C (p.Leu414Pro)
c.948-417T>C (n.948-417T>C)
c.3441+16876A>G (n.3441+16876A>G)
c.975T>C (p.Ala325=)
c.1160T>C (p.Leu387Pro)
c.276+16876A>G (n.276+16876A>G)
c.*220+5668T>C (n.*220+5668T>C)
c.284T>C (p.Leu95Pro)
c.311T>C (p.Leu104Pro)
c.1166T>C (p.Leu389Pro)
c.980T>C (p.Leu327Pro)
c.899T>C (p.Leu300Pro)
c.605T>C (p.Leu202Pro)
c.986T>C (p.Leu329Pro)
 gnomAD v4
2g.48688556A>TCA346748509GTF2A1L,LHCGR,STON1-GTF2A1Lc.1241T>A (p.Leu414His)
c.948-417T>A (n.948-417T>A)
c.3441+16876A>T (n.3441+16876A>T)
c.975T>A (p.Ala325=)
c.1160T>A (p.Leu387His)
c.276+16876A>T (n.276+16876A>T)
c.*220+5668T>A (n.*220+5668T>A)
c.284T>A (p.Leu95His)
c.311T>A (p.Leu104His)
c.1166T>A (p.Leu389His)
c.980T>A (p.Leu327His)
c.899T>A (p.Leu300His)
c.605T>A (p.Leu202His)
c.986T>A (p.Leu329His)
2g.48688557G>ACA346748512GTF2A1L,LHCGR,STON1-GTF2A1Lc.1240C>T (p.Leu414Phe)
c.948-418C>T (n.948-418C>T)
c.3441+16877G>A (n.3441+16877G>A)
c.974C>T (p.Ala325Val)
c.1159C>T (p.Leu387Phe)
c.276+16877G>A (n.276+16877G>A)
c.*220+5667C>T (n.*220+5667C>T)
c.283C>T (p.Leu95Phe)
c.310C>T (p.Leu104Phe)
c.1165C>T (p.Leu389Phe)
c.979C>T (p.Leu327Phe)
c.898C>T (p.Leu300Phe)
c.604C>T (p.Leu202Phe)
c.985C>T (p.Leu329Phe)

Number of alleles fetched