Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48688015G>ACA426124893GTF2A1L,LHCGR,STON1-GTF2A1Lc.1782C>T (p.Phe594=)
c.*94C>T (n.*94C>T)
c.3441+16335G>A (n.3441+16335G>A)
c.*526C>T (n.*526C>T)
c.1701C>T (p.Phe567=)
c.276+16335G>A (n.276+16335G>A)
c.*220+6209C>T (n.*220+6209C>T)
c.825C>T (p.Phe275=)
c.852C>T (p.Phe284=)
c.1707C>T (p.Phe569=)
c.1521C>T (p.Phe507=)
c.1440C>T (p.Phe480=)
c.1146C>T (p.Phe382=)
c.1527C>T (p.Phe509=)
2g.48688015G>CCA346744547GTF2A1L,LHCGR,STON1-GTF2A1Lc.1782C>G (p.Phe594Leu)
c.*94C>G (n.*94C>G)
c.3441+16335G>C (n.3441+16335G>C)
c.*526C>G (n.*526C>G)
c.1701C>G (p.Phe567Leu)
c.276+16335G>C (n.276+16335G>C)
c.*220+6209C>G (n.*220+6209C>G)
c.825C>G (p.Phe275Leu)
c.852C>G (p.Phe284Leu)
c.1707C>G (p.Phe569Leu)
c.1521C>G (p.Phe507Leu)
c.1440C>G (p.Phe480Leu)
c.1146C>G (p.Phe382Leu)
c.1527C>G (p.Phe509Leu)
 dbSNP
2g.48688015G>TCA346744549GTF2A1L,LHCGR,STON1-GTF2A1Lc.1782C>A (p.Phe594Leu)
c.*94C>A (n.*94C>A)
c.3441+16335G>T (n.3441+16335G>T)
c.*526C>A (n.*526C>A)
c.1701C>A (p.Phe567Leu)
c.276+16335G>T (n.276+16335G>T)
c.*220+6209C>A (n.*220+6209C>A)
c.825C>A (p.Phe275Leu)
c.852C>A (p.Phe284Leu)
c.1707C>A (p.Phe569Leu)
c.1521C>A (p.Phe507Leu)
c.1440C>A (p.Phe480Leu)
c.1146C>A (p.Phe382Leu)
c.1527C>A (p.Phe509Leu)
2g.48688016A>CCA346744556GTF2A1L,LHCGR,STON1-GTF2A1Lc.1781T>G (p.Phe594Cys)
c.*93T>G (n.*93T>G)
c.3441+16336A>C (n.3441+16336A>C)
c.*525T>G (n.*525T>G)
c.1700T>G (p.Phe567Cys)
c.276+16336A>C (n.276+16336A>C)
c.*220+6208T>G (n.*220+6208T>G)
c.824T>G (p.Phe275Cys)
c.851T>G (p.Phe284Cys)
c.1706T>G (p.Phe569Cys)
c.1520T>G (p.Phe507Cys)
c.1439T>G (p.Phe480Cys)
c.1145T>G (p.Phe382Cys)
c.1526T>G (p.Phe509Cys)
2g.48688016A>GCA346744557GTF2A1L,LHCGR,STON1-GTF2A1Lc.1781T>C (p.Phe594Ser)
c.*93T>C (n.*93T>C)
c.3441+16336A>G (n.3441+16336A>G)
c.*525T>C (n.*525T>C)
c.1700T>C (p.Phe567Ser)
c.276+16336A>G (n.276+16336A>G)
c.*220+6208T>C (n.*220+6208T>C)
c.824T>C (p.Phe275Ser)
c.851T>C (p.Phe284Ser)
c.1706T>C (p.Phe569Ser)
c.1520T>C (p.Phe507Ser)
c.1439T>C (p.Phe480Ser)
c.1145T>C (p.Phe382Ser)
c.1526T>C (p.Phe509Ser)
2g.48688016A>TCA346744559GTF2A1L,LHCGR,STON1-GTF2A1Lc.1781T>A (p.Phe594Tyr)
c.*93T>A (n.*93T>A)
c.3441+16336A>T (n.3441+16336A>T)
c.*525T>A (n.*525T>A)
c.1700T>A (p.Phe567Tyr)
c.276+16336A>T (n.276+16336A>T)
c.*220+6208T>A (n.*220+6208T>A)
c.824T>A (p.Phe275Tyr)
c.851T>A (p.Phe284Tyr)
c.1706T>A (p.Phe569Tyr)
c.1520T>A (p.Phe507Tyr)
c.1439T>A (p.Phe480Tyr)
c.1145T>A (p.Phe382Tyr)
c.1526T>A (p.Phe509Tyr)
2g.48688017A>CCA346744566GTF2A1L,LHCGR,STON1-GTF2A1Lc.1780T>G (p.Phe594Val)
c.*92T>G (n.*92T>G)
c.3441+16337A>C (n.3441+16337A>C)
c.*524T>G (n.*524T>G)
c.1699T>G (p.Phe567Val)
c.276+16337A>C (n.276+16337A>C)
c.*220+6207T>G (n.*220+6207T>G)
c.823T>G (p.Phe275Val)
c.850T>G (p.Phe284Val)
c.1705T>G (p.Phe569Val)
c.1519T>G (p.Phe507Val)
c.1438T>G (p.Phe480Val)
c.1144T>G (p.Phe382Val)
c.1525T>G (p.Phe509Val)
2g.48688017A>GCA346744564GTF2A1L,LHCGR,STON1-GTF2A1Lc.1780T>C (p.Phe594Leu)
c.*92T>C (n.*92T>C)
c.3441+16337A>G (n.3441+16337A>G)
c.*524T>C (n.*524T>C)
c.1699T>C (p.Phe567Leu)
c.276+16337A>G (n.276+16337A>G)
c.*220+6207T>C (n.*220+6207T>C)
c.823T>C (p.Phe275Leu)
c.850T>C (p.Phe284Leu)
c.1705T>C (p.Phe569Leu)
c.1519T>C (p.Phe507Leu)
c.1438T>C (p.Phe480Leu)
c.1144T>C (p.Phe382Leu)
c.1525T>C (p.Phe509Leu)
2g.48688017A>TCA346744562GTF2A1L,LHCGR,STON1-GTF2A1Lc.1780T>A (p.Phe594Ile)
c.*92T>A (n.*92T>A)
c.3441+16337A>T (n.3441+16337A>T)
c.*524T>A (n.*524T>A)
c.1699T>A (p.Phe567Ile)
c.276+16337A>T (n.276+16337A>T)
c.*220+6207T>A (n.*220+6207T>A)
c.823T>A (p.Phe275Ile)
c.850T>A (p.Phe284Ile)
c.1705T>A (p.Phe569Ile)
c.1519T>A (p.Phe507Ile)
c.1438T>A (p.Phe480Ile)
c.1144T>A (p.Phe382Ile)
c.1525T>A (p.Phe509Ile)
2g.48688018G>ACA426124894GTF2A1L,LHCGR,STON1-GTF2A1Lc.1779C>T (p.Ala593=)
c.*91C>T (n.*91C>T)
c.3441+16338G>A (n.3441+16338G>A)
c.*523C>T (n.*523C>T)
c.1698C>T (p.Ala566=)
c.276+16338G>A (n.276+16338G>A)
c.*220+6206C>T (n.*220+6206C>T)
c.822C>T (p.Ala274=)
c.849C>T (p.Ala283=)
c.1704C>T (p.Ala568=)
c.1518C>T (p.Ala506=)
c.1437C>T (p.Ala479=)
c.1143C>T (p.Ala381=)
c.1524C>T (p.Ala508=)
2g.48688018G>CCA426124895GTF2A1L,LHCGR,STON1-GTF2A1Lc.1779C>G (p.Ala593=)
c.*91C>G (n.*91C>G)
c.3441+16338G>C (n.3441+16338G>C)
c.*523C>G (n.*523C>G)
c.1698C>G (p.Ala566=)
c.276+16338G>C (n.276+16338G>C)
c.*220+6206C>G (n.*220+6206C>G)
c.822C>G (p.Ala274=)
c.849C>G (p.Ala283=)
c.1704C>G (p.Ala568=)
c.1518C>G (p.Ala506=)
c.1437C>G (p.Ala479=)
c.1143C>G (p.Ala381=)
c.1524C>G (p.Ala508=)
2g.48688018G>TCA426124896GTF2A1L,LHCGR,STON1-GTF2A1Lc.1779C>A (p.Ala593=)
c.*91C>A (n.*91C>A)
c.3441+16338G>T (n.3441+16338G>T)
c.*523C>A (n.*523C>A)
c.1698C>A (p.Ala566=)
c.276+16338G>T (n.276+16338G>T)
c.*220+6206C>A (n.*220+6206C>A)
c.822C>A (p.Ala274=)
c.849C>A (p.Ala283=)
c.1704C>A (p.Ala568=)
c.1518C>A (p.Ala506=)
c.1437C>A (p.Ala479=)
c.1143C>A (p.Ala381=)
c.1524C>A (p.Ala508=)
2g.48688019G>ACA346744568GTF2A1L,LHCGR,STON1-GTF2A1Lc.1778C>T (p.Ala593Val)
c.*90C>T (n.*90C>T)
c.3441+16339G>A (n.3441+16339G>A)
c.*522C>T (n.*522C>T)
c.1697C>T (p.Ala566Val)
c.276+16339G>A (n.276+16339G>A)
c.*220+6205C>T (n.*220+6205C>T)
c.821C>T (p.Ala274Val)
c.848C>T (p.Ala283Val)
c.1703C>T (p.Ala568Val)
c.1517C>T (p.Ala506Val)
c.1436C>T (p.Ala479Val)
c.1142C>T (p.Ala381Val)
c.1523C>T (p.Ala508Val)
 dbSNP
2g.48688019G>CCA346744569GTF2A1L,LHCGR,STON1-GTF2A1Lc.1778C>G (p.Ala593Gly)
c.*90C>G (n.*90C>G)
c.3441+16339G>C (n.3441+16339G>C)
c.*522C>G (n.*522C>G)
c.1697C>G (p.Ala566Gly)
c.276+16339G>C (n.276+16339G>C)
c.*220+6205C>G (n.*220+6205C>G)
c.821C>G (p.Ala274Gly)
c.848C>G (p.Ala283Gly)
c.1703C>G (p.Ala568Gly)
c.1517C>G (p.Ala506Gly)
c.1436C>G (p.Ala479Gly)
c.1142C>G (p.Ala381Gly)
c.1523C>G (p.Ala508Gly)
2g.48688019G=CA1248600949GTF2A1L,LHCGR,STON1-GTF2A1Lc.1778C= (p.Ala593=)
c.*90C= (n.*90C=)
c.3441+16339G= (n.3441+16339G=)
c.*522C= (n.*522C=)
c.1697C= (p.Ala566=)
c.276+16339G= (n.276+16339G=)
c.*220+6205C= (n.*220+6205C=)
c.821C= (p.Ala274=)
c.848C= (p.Ala283=)
c.1703C= (p.Ala568=)
c.1517C= (p.Ala506=)
c.1436C= (p.Ala479=)
c.1142C= (p.Ala381=)
c.1523C= (p.Ala508=)
2g.48688019G>TCA346744570GTF2A1L,LHCGR,STON1-GTF2A1Lc.1778C>A (p.Ala593Asp)
c.*90C>A (n.*90C>A)
c.3441+16339G>T (n.3441+16339G>T)
c.*522C>A (n.*522C>A)
c.1697C>A (p.Ala566Asp)
c.276+16339G>T (n.276+16339G>T)
c.*220+6205C>A (n.*220+6205C>A)
c.821C>A (p.Ala274Asp)
c.848C>A (p.Ala283Asp)
c.1703C>A (p.Ala568Asp)
c.1517C>A (p.Ala506Asp)
c.1436C>A (p.Ala479Asp)
c.1142C>A (p.Ala381Asp)
c.1523C>A (p.Ala508Asp)
 dbSNP gnomAD v4
2g.48688020C>ACA346744575GTF2A1L,LHCGR,STON1-GTF2A1Lc.1777G>T (p.Ala593Ser)
c.*89G>T (n.*89G>T)
c.3441+16340C>A (n.3441+16340C>A)
c.*521G>T (n.*521G>T)
c.1696G>T (p.Ala566Ser)
c.276+16340C>A (n.276+16340C>A)
c.*220+6204G>T (n.*220+6204G>T)
c.820G>T (p.Ala274Ser)
c.847G>T (p.Ala283Ser)
c.1702G>T (p.Ala568Ser)
c.1516G>T (p.Ala506Ser)
c.1435G>T (p.Ala479Ser)
c.1141G>T (p.Ala381Ser)
c.1522G>T (p.Ala508Ser)
2g.48688020C=CA1248600950GTF2A1L,LHCGR,STON1-GTF2A1Lc.1777G= (p.Ala593=)
c.*89G= (n.*89G=)
c.3441+16340C= (n.3441+16340C=)
c.*521G= (n.*521G=)
c.1696G= (p.Ala566=)
c.276+16340C= (n.276+16340C=)
c.*220+6204G= (n.*220+6204G=)
c.820G= (p.Ala274=)
c.847G= (p.Ala283=)
c.1702G= (p.Ala568=)
c.1516G= (p.Ala506=)
c.1435G= (p.Ala479=)
c.1141G= (p.Ala381=)
c.1522G= (p.Ala508=)
2g.48688020C>GCA123918GTF2A1L,LHCGR,STON1-GTF2A1Lc.1777G>C (p.Ala593Pro)
c.*89G>C (n.*89G>C)
c.3441+16340C>G (n.3441+16340C>G)
c.*521G>C (n.*521G>C)
c.1696G>C (p.Ala566Pro)
c.276+16340C>G (n.276+16340C>G)
c.*220+6204G>C (n.*220+6204G>C)
c.820G>C (p.Ala274Pro)
c.847G>C (p.Ala283Pro)
c.1702G>C (p.Ala568Pro)
c.1516G>C (p.Ala506Pro)
c.1435G>C (p.Ala479Pro)
c.1141G>C (p.Ala381Pro)
c.1522G>C (p.Ala508Pro)
 ClinVar dbSNP
2g.48688020C>TCA346744582GTF2A1L,LHCGR,STON1-GTF2A1Lc.1777G>A (p.Ala593Thr)
c.*89G>A (n.*89G>A)
c.3441+16340C>T (n.3441+16340C>T)
c.*521G>A (n.*521G>A)
c.1696G>A (p.Ala566Thr)
c.276+16340C>T (n.276+16340C>T)
c.*220+6204G>A (n.*220+6204G>A)
c.820G>A (p.Ala274Thr)
c.847G>A (p.Ala283Thr)
c.1702G>A (p.Ala568Thr)
c.1516G>A (p.Ala506Thr)
c.1435G>A (p.Ala479Thr)
c.1141G>A (p.Ala381Thr)
c.1522G>A (p.Ala508Thr)
2g.48688021A=CA1248600951GTF2A1L,LHCGR,STON1-GTF2A1Lc.1776T= (p.Ala592=)
c.*88T= (n.*88T=)
c.3441+16341A= (n.3441+16341A=)
c.*520T= (n.*520T=)
c.1695T= (p.Ala565=)
c.276+16341A= (n.276+16341A=)
c.*220+6203T= (n.*220+6203T=)
c.819T= (p.Ala273=)
c.846T= (p.Ala282=)
c.1701T= (p.Ala567=)
c.1515T= (p.Ala505=)
c.1434T= (p.Ala478=)
c.1140T= (p.Ala380=)
c.1521T= (p.Ala507=)
2g.48688021A>CCA426124897GTF2A1L,LHCGR,STON1-GTF2A1Lc.1776T>G (p.Ala592=)
c.*88T>G (n.*88T>G)
c.3441+16341A>C (n.3441+16341A>C)
c.*520T>G (n.*520T>G)
c.1695T>G (p.Ala565=)
c.276+16341A>C (n.276+16341A>C)
c.*220+6203T>G (n.*220+6203T>G)
c.819T>G (p.Ala273=)
c.846T>G (p.Ala282=)
c.1701T>G (p.Ala567=)
c.1515T>G (p.Ala505=)
c.1434T>G (p.Ala478=)
c.1140T>G (p.Ala380=)
c.1521T>G (p.Ala507=)
2g.48688021A>GCA1652991GTF2A1L,LHCGR,STON1-GTF2A1Lc.1776T>C (p.Ala592=)
c.*88T>C (n.*88T>C)
c.3441+16341A>G (n.3441+16341A>G)
c.*520T>C (n.*520T>C)
c.1695T>C (p.Ala565=)
c.276+16341A>G (n.276+16341A>G)
c.*220+6203T>C (n.*220+6203T>C)
c.819T>C (p.Ala273=)
c.846T>C (p.Ala282=)
c.1701T>C (p.Ala567=)
c.1515T>C (p.Ala505=)
c.1434T>C (p.Ala478=)
c.1140T>C (p.Ala380=)
c.1521T>C (p.Ala507=)
 dbSNP ExAC gnomAD v2
2g.48688021A>TCA426124898GTF2A1L,LHCGR,STON1-GTF2A1Lc.1776T>A (p.Ala592=)
c.*88T>A (n.*88T>A)
c.3441+16341A>T (n.3441+16341A>T)
c.*520T>A (n.*520T>A)
c.1695T>A (p.Ala565=)
c.276+16341A>T (n.276+16341A>T)
c.*220+6203T>A (n.*220+6203T>A)
c.819T>A (p.Ala273=)
c.846T>A (p.Ala282=)
c.1701T>A (p.Ala567=)
c.1515T>A (p.Ala505=)
c.1434T>A (p.Ala478=)
c.1140T>A (p.Ala380=)
c.1521T>A (p.Ala507=)
2g.48688022G>ACA346744586GTF2A1L,LHCGR,STON1-GTF2A1Lc.1775C>T (p.Ala592Val)
c.*87C>T (n.*87C>T)
c.3441+16342G>A (n.3441+16342G>A)
c.*519C>T (n.*519C>T)
c.1694C>T (p.Ala565Val)
c.276+16342G>A (n.276+16342G>A)
c.*220+6202C>T (n.*220+6202C>T)
c.818C>T (p.Ala273Val)
c.845C>T (p.Ala282Val)
c.1700C>T (p.Ala567Val)
c.1514C>T (p.Ala505Val)
c.1433C>T (p.Ala478Val)
c.1139C>T (p.Ala380Val)
c.1520C>T (p.Ala507Val)
2g.48688022G>CCA346744588GTF2A1L,LHCGR,STON1-GTF2A1Lc.1775C>G (p.Ala592Gly)
c.*87C>G (n.*87C>G)
c.3441+16342G>C (n.3441+16342G>C)
c.*519C>G (n.*519C>G)
c.1694C>G (p.Ala565Gly)
c.276+16342G>C (n.276+16342G>C)
c.*220+6202C>G (n.*220+6202C>G)
c.818C>G (p.Ala273Gly)
c.845C>G (p.Ala282Gly)
c.1700C>G (p.Ala567Gly)
c.1514C>G (p.Ala505Gly)
c.1433C>G (p.Ala478Gly)
c.1139C>G (p.Ala380Gly)
c.1520C>G (p.Ala507Gly)
2g.48688022G>TCA346744590GTF2A1L,LHCGR,STON1-GTF2A1Lc.1775C>A (p.Ala592Asp)
c.*87C>A (n.*87C>A)
c.3441+16342G>T (n.3441+16342G>T)
c.*519C>A (n.*519C>A)
c.1694C>A (p.Ala565Asp)
c.276+16342G>T (n.276+16342G>T)
c.*220+6202C>A (n.*220+6202C>A)
c.818C>A (p.Ala273Asp)
c.845C>A (p.Ala282Asp)
c.1700C>A (p.Ala567Asp)
c.1514C>A (p.Ala505Asp)
c.1433C>A (p.Ala478Asp)
c.1139C>A (p.Ala380Asp)
c.1520C>A (p.Ala507Asp)
2g.48688023C>ACA346744593GTF2A1L,LHCGR,STON1-GTF2A1Lc.1774G>T (p.Ala592Ser)
c.*86G>T (n.*86G>T)
c.3441+16343C>A (n.3441+16343C>A)
c.*518G>T (n.*518G>T)
c.1693G>T (p.Ala565Ser)
c.276+16343C>A (n.276+16343C>A)
c.*220+6201G>T (n.*220+6201G>T)
c.817G>T (p.Ala273Ser)
c.844G>T (p.Ala282Ser)
c.1699G>T (p.Ala567Ser)
c.1513G>T (p.Ala505Ser)
c.1432G>T (p.Ala478Ser)
c.1138G>T (p.Ala380Ser)
c.1519G>T (p.Ala507Ser)
2g.48688023C>GCA346744595GTF2A1L,LHCGR,STON1-GTF2A1Lc.1774G>C (p.Ala592Pro)
c.*86G>C (n.*86G>C)
c.3441+16343C>G (n.3441+16343C>G)
c.*518G>C (n.*518G>C)
c.1693G>C (p.Ala565Pro)
c.276+16343C>G (n.276+16343C>G)
c.*220+6201G>C (n.*220+6201G>C)
c.817G>C (p.Ala273Pro)
c.844G>C (p.Ala282Pro)
c.1699G>C (p.Ala567Pro)
c.1513G>C (p.Ala505Pro)
c.1432G>C (p.Ala478Pro)
c.1138G>C (p.Ala380Pro)
c.1519G>C (p.Ala507Pro)
2g.48688023C>TCA346744596GTF2A1L,LHCGR,STON1-GTF2A1Lc.1774G>A (p.Ala592Thr)
c.*86G>A (n.*86G>A)
c.3441+16343C>T (n.3441+16343C>T)
c.*518G>A (n.*518G>A)
c.1693G>A (p.Ala565Thr)
c.276+16343C>T (n.276+16343C>T)
c.*220+6201G>A (n.*220+6201G>A)
c.817G>A (p.Ala273Thr)
c.844G>A (p.Ala282Thr)
c.1699G>A (p.Ala567Thr)
c.1513G>A (p.Ala505Thr)
c.1432G>A (p.Ala478Thr)
c.1138G>A (p.Ala380Thr)
c.1519G>A (p.Ala507Thr)
 gnomAD v4
2g.48688024T>ACA426124899GTF2A1L,LHCGR,STON1-GTF2A1Lc.1773A>T (p.Ser591=)
c.*85A>T (n.*85A>T)
c.3441+16344T>A (n.3441+16344T>A)
c.*517A>T (n.*517A>T)
c.1692A>T (p.Ser564=)
c.276+16344T>A (n.276+16344T>A)
c.*220+6200A>T (n.*220+6200A>T)
c.816A>T (p.Ser272=)
c.843A>T (p.Ser281=)
c.1698A>T (p.Ser566=)
c.1512A>T (p.Ser504=)
c.1431A>T (p.Ser477=)
c.1137A>T (p.Ser379=)
c.1518A>T (p.Ser506=)
2g.48688024T>CCA426124901GTF2A1L,LHCGR,STON1-GTF2A1Lc.1773A>G (p.Ser591=)
c.*85A>G (n.*85A>G)
c.3441+16344T>C (n.3441+16344T>C)
c.*517A>G (n.*517A>G)
c.1692A>G (p.Ser564=)
c.276+16344T>C (n.276+16344T>C)
c.*220+6200A>G (n.*220+6200A>G)
c.816A>G (p.Ser272=)
c.843A>G (p.Ser281=)
c.1698A>G (p.Ser566=)
c.1512A>G (p.Ser504=)
c.1431A>G (p.Ser477=)
c.1137A>G (p.Ser379=)
c.1518A>G (p.Ser506=)
2g.48688024T>GCA426124900GTF2A1L,LHCGR,STON1-GTF2A1Lc.1773A>C (p.Ser591=)
c.*85A>C (n.*85A>C)
c.3441+16344T>G (n.3441+16344T>G)
c.*517A>C (n.*517A>C)
c.1692A>C (p.Ser564=)
c.276+16344T>G (n.276+16344T>G)
c.*220+6200A>C (n.*220+6200A>C)
c.816A>C (p.Ser272=)
c.843A>C (p.Ser281=)
c.1698A>C (p.Ser566=)
c.1512A>C (p.Ser504=)
c.1431A>C (p.Ser477=)
c.1137A>C (p.Ser379=)
c.1518A>C (p.Ser506=)
 gnomAD v4
2g.48688025G>ACA346744599GTF2A1L,LHCGR,STON1-GTF2A1Lc.1772C>T (p.Ser591Leu)
c.*84C>T (n.*84C>T)
c.3441+16345G>A (n.3441+16345G>A)
c.*516C>T (n.*516C>T)
c.1691C>T (p.Ser564Leu)
c.276+16345G>A (n.276+16345G>A)
c.*220+6199C>T (n.*220+6199C>T)
c.815C>T (p.Ser272Leu)
c.842C>T (p.Ser281Leu)
c.1697C>T (p.Ser566Leu)
c.1511C>T (p.Ser504Leu)
c.1430C>T (p.Ser477Leu)
c.1136C>T (p.Ser379Leu)
c.1517C>T (p.Ser506Leu)
2g.48688025G>CCA346744602GTF2A1L,LHCGR,STON1-GTF2A1Lc.1772C>G (p.Ser591Ter)
c.*84C>G (n.*84C>G)
c.3441+16345G>C (n.3441+16345G>C)
c.*516C>G (n.*516C>G)
c.1691C>G (p.Ser564Ter)
c.276+16345G>C (n.276+16345G>C)
c.*220+6199C>G (n.*220+6199C>G)
c.815C>G (p.Ser272Ter)
c.842C>G (p.Ser281Ter)
c.1697C>G (p.Ser566Ter)
c.1511C>G (p.Ser504Ter)
c.1430C>G (p.Ser477Ter)
c.1136C>G (p.Ser379Ter)
c.1517C>G (p.Ser506Ter)
2g.48688025G>TCA346744598GTF2A1L,LHCGR,STON1-GTF2A1Lc.1772C>A (p.Ser591Ter)
c.*84C>A (n.*84C>A)
c.3441+16345G>T (n.3441+16345G>T)
c.*516C>A (n.*516C>A)
c.1691C>A (p.Ser564Ter)
c.276+16345G>T (n.276+16345G>T)
c.*220+6199C>A (n.*220+6199C>A)
c.815C>A (p.Ser272Ter)
c.842C>A (p.Ser281Ter)
c.1697C>A (p.Ser566Ter)
c.1511C>A (p.Ser504Ter)
c.1430C>A (p.Ser477Ter)
c.1136C>A (p.Ser379Ter)
c.1517C>A (p.Ser506Ter)
 dbSNP
2g.48688026A>CCA346744608GTF2A1L,LHCGR,STON1-GTF2A1Lc.1771T>G (p.Ser591Ala)
c.*83T>G (n.*83T>G)
c.3441+16346A>C (n.3441+16346A>C)
c.*515T>G (n.*515T>G)
c.1690T>G (p.Ser564Ala)
c.276+16346A>C (n.276+16346A>C)
c.*220+6198T>G (n.*220+6198T>G)
c.814T>G (p.Ser272Ala)
c.841T>G (p.Ser281Ala)
c.1696T>G (p.Ser566Ala)
c.1510T>G (p.Ser504Ala)
c.1429T>G (p.Ser477Ala)
c.1135T>G (p.Ser379Ala)
c.1516T>G (p.Ser506Ala)
2g.48688026A>GCA346744605GTF2A1L,LHCGR,STON1-GTF2A1Lc.1771T>C (p.Ser591Pro)
c.*83T>C (n.*83T>C)
c.3441+16346A>G (n.3441+16346A>G)
c.*515T>C (n.*515T>C)
c.1690T>C (p.Ser564Pro)
c.276+16346A>G (n.276+16346A>G)
c.*220+6198T>C (n.*220+6198T>C)
c.814T>C (p.Ser272Pro)
c.841T>C (p.Ser281Pro)
c.1696T>C (p.Ser566Pro)
c.1510T>C (p.Ser504Pro)
c.1429T>C (p.Ser477Pro)
c.1135T>C (p.Ser379Pro)
c.1516T>C (p.Ser506Pro)
2g.48688026A>TCA346744617GTF2A1L,LHCGR,STON1-GTF2A1Lc.1771T>A (p.Ser591Thr)
c.*83T>A (n.*83T>A)
c.3441+16346A>T (n.3441+16346A>T)
c.*515T>A (n.*515T>A)
c.1690T>A (p.Ser564Thr)
c.276+16346A>T (n.276+16346A>T)
c.*220+6198T>A (n.*220+6198T>A)
c.814T>A (p.Ser272Thr)
c.841T>A (p.Ser281Thr)
c.1696T>A (p.Ser566Thr)
c.1510T>A (p.Ser504Thr)
c.1429T>A (p.Ser477Thr)
c.1135T>A (p.Ser379Thr)
c.1516T>A (p.Ser506Thr)
2g.48688027G>ACA426124902GTF2A1L,LHCGR,STON1-GTF2A1Lc.1770C>T (p.Ile590=)
c.*82C>T (n.*82C>T)
c.3441+16347G>A (n.3441+16347G>A)
c.*514C>T (n.*514C>T)
c.1689C>T (p.Ile563=)
c.276+16347G>A (n.276+16347G>A)
c.*220+6197C>T (n.*220+6197C>T)
c.813C>T (p.Ile271=)
c.840C>T (p.Ile280=)
c.1695C>T (p.Ile565=)
c.1509C>T (p.Ile503=)
c.1428C>T (p.Ile476=)
c.1134C>T (p.Ile378=)
c.1515C>T (p.Ile505=)
 dbSNP gnomAD v3 gnomAD v4
2g.48688027G>CCA346744620GTF2A1L,LHCGR,STON1-GTF2A1Lc.1770C>G (p.Ile590Met)
c.*82C>G (n.*82C>G)
c.3441+16347G>C (n.3441+16347G>C)
c.*514C>G (n.*514C>G)
c.1689C>G (p.Ile563Met)
c.276+16347G>C (n.276+16347G>C)
c.*220+6197C>G (n.*220+6197C>G)
c.813C>G (p.Ile271Met)
c.840C>G (p.Ile280Met)
c.1695C>G (p.Ile565Met)
c.1509C>G (p.Ile503Met)
c.1428C>G (p.Ile476Met)
c.1134C>G (p.Ile378Met)
c.1515C>G (p.Ile505Met)
2g.48688027G=CA1248600952GTF2A1L,LHCGR,STON1-GTF2A1Lc.1770C= (p.Ile590=)
c.*82C= (n.*82C=)
c.3441+16347G= (n.3441+16347G=)
c.*514C= (n.*514C=)
c.1689C= (p.Ile563=)
c.276+16347G= (n.276+16347G=)
c.*220+6197C= (n.*220+6197C=)
c.813C= (p.Ile271=)
c.840C= (p.Ile280=)
c.1695C= (p.Ile565=)
c.1509C= (p.Ile503=)
c.1428C= (p.Ile476=)
c.1134C= (p.Ile378=)
c.1515C= (p.Ile505=)
2g.48688027G>TCA426124903GTF2A1L,LHCGR,STON1-GTF2A1Lc.1770C>A (p.Ile590=)
c.*82C>A (n.*82C>A)
c.3441+16347G>T (n.3441+16347G>T)
c.*514C>A (n.*514C>A)
c.1689C>A (p.Ile563=)
c.276+16347G>T (n.276+16347G>T)
c.*220+6197C>A (n.*220+6197C>A)
c.813C>A (p.Ile271=)
c.840C>A (p.Ile280=)
c.1695C>A (p.Ile565=)
c.1509C>A (p.Ile503=)
c.1428C>A (p.Ile476=)
c.1134C>A (p.Ile378=)
c.1515C>A (p.Ile505=)
2g.48688028A=CA1248600953GTF2A1L,LHCGR,STON1-GTF2A1Lc.1769T= (p.Ile590=)
c.*81T= (n.*81T=)
c.3441+16348A= (n.3441+16348A=)
c.*513T= (n.*513T=)
c.1688T= (p.Ile563=)
c.276+16348A= (n.276+16348A=)
c.*220+6196T= (n.*220+6196T=)
c.812T= (p.Ile271=)
c.839T= (p.Ile280=)
c.1694T= (p.Ile565=)
c.1508T= (p.Ile503=)
c.1427T= (p.Ile476=)
c.1133T= (p.Ile378=)
c.1514T= (p.Ile505=)
2g.48688028A>CCA346744622GTF2A1L,LHCGR,STON1-GTF2A1Lc.1769T>G (p.Ile590Ser)
c.*81T>G (n.*81T>G)
c.3441+16348A>C (n.3441+16348A>C)
c.*513T>G (n.*513T>G)
c.1688T>G (p.Ile563Ser)
c.276+16348A>C (n.276+16348A>C)
c.*220+6196T>G (n.*220+6196T>G)
c.812T>G (p.Ile271Ser)
c.839T>G (p.Ile280Ser)
c.1694T>G (p.Ile565Ser)
c.1508T>G (p.Ile503Ser)
c.1427T>G (p.Ile476Ser)
c.1133T>G (p.Ile378Ser)
c.1514T>G (p.Ile505Ser)
2g.48688028A>GCA1652992GTF2A1L,LHCGR,STON1-GTF2A1Lc.1769T>C (p.Ile590Thr)
c.*81T>C (n.*81T>C)
c.3441+16348A>G (n.3441+16348A>G)
c.*513T>C (n.*513T>C)
c.1688T>C (p.Ile563Thr)
c.276+16348A>G (n.276+16348A>G)
c.*220+6196T>C (n.*220+6196T>C)
c.812T>C (p.Ile271Thr)
c.839T>C (p.Ile280Thr)
c.1694T>C (p.Ile565Thr)
c.1508T>C (p.Ile503Thr)
c.1427T>C (p.Ile476Thr)
c.1133T>C (p.Ile378Thr)
c.1514T>C (p.Ile505Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688028A>TCA346744625GTF2A1L,LHCGR,STON1-GTF2A1Lc.1769T>A (p.Ile590Asn)
c.*81T>A (n.*81T>A)
c.3441+16348A>T (n.3441+16348A>T)
c.*513T>A (n.*513T>A)
c.1688T>A (p.Ile563Asn)
c.276+16348A>T (n.276+16348A>T)
c.*220+6196T>A (n.*220+6196T>A)
c.812T>A (p.Ile271Asn)
c.839T>A (p.Ile280Asn)
c.1694T>A (p.Ile565Asn)
c.1508T>A (p.Ile503Asn)
c.1427T>A (p.Ile476Asn)
c.1133T>A (p.Ile378Asn)
c.1514T>A (p.Ile505Asn)
 dbSNP
2g.48688029T>ACA346744628GTF2A1L,LHCGR,STON1-GTF2A1Lc.1768A>T (p.Ile590Phe)
c.*80A>T (n.*80A>T)
c.3441+16349T>A (n.3441+16349T>A)
c.*512A>T (n.*512A>T)
c.1687A>T (p.Ile563Phe)
c.276+16349T>A (n.276+16349T>A)
c.*220+6195A>T (n.*220+6195A>T)
c.811A>T (p.Ile271Phe)
c.838A>T (p.Ile280Phe)
c.1693A>T (p.Ile565Phe)
c.1507A>T (p.Ile503Phe)
c.1426A>T (p.Ile476Phe)
c.1132A>T (p.Ile378Phe)
c.1513A>T (p.Ile505Phe)
2g.48688029T>CCA1652993GTF2A1L,LHCGR,STON1-GTF2A1Lc.1768A>G (p.Ile590Val)
c.*80A>G (n.*80A>G)
c.3441+16349T>C (n.3441+16349T>C)
c.*512A>G (n.*512A>G)
c.1687A>G (p.Ile563Val)
c.276+16349T>C (n.276+16349T>C)
c.*220+6195A>G (n.*220+6195A>G)
c.811A>G (p.Ile271Val)
c.838A>G (p.Ile280Val)
c.1693A>G (p.Ile565Val)
c.1507A>G (p.Ile503Val)
c.1426A>G (p.Ile476Val)
c.1132A>G (p.Ile378Val)
c.1513A>G (p.Ile505Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688029T>GCA346744635GTF2A1L,LHCGR,STON1-GTF2A1Lc.1768A>C (p.Ile590Leu)
c.*80A>C (n.*80A>C)
c.3441+16349T>G (n.3441+16349T>G)
c.*512A>C (n.*512A>C)
c.1687A>C (p.Ile563Leu)
c.276+16349T>G (n.276+16349T>G)
c.*220+6195A>C (n.*220+6195A>C)
c.811A>C (p.Ile271Leu)
c.838A>C (p.Ile280Leu)
c.1693A>C (p.Ile565Leu)
c.1507A>C (p.Ile503Leu)
c.1426A>C (p.Ile476Leu)
c.1132A>C (p.Ile378Leu)
c.1513A>C (p.Ile505Leu)
2g.48688029T=CA1248600954GTF2A1L,LHCGR,STON1-GTF2A1Lc.1768A= (p.Ile590=)
c.*80A= (n.*80A=)
c.3441+16349T= (n.3441+16349T=)
c.*512A= (n.*512A=)
c.1687A= (p.Ile563=)
c.276+16349T= (n.276+16349T=)
c.*220+6195A= (n.*220+6195A=)
c.811A= (p.Ile271=)
c.838A= (p.Ile280=)
c.1693A= (p.Ile565=)
c.1507A= (p.Ile503=)
c.1426A= (p.Ile476=)
c.1132A= (p.Ile378=)
c.1513A= (p.Ile505=)
2g.48688030G>ACA426124904GTF2A1L,LHCGR,STON1-GTF2A1Lc.1767C>T (p.Ala589=)
c.*79C>T (n.*79C>T)
c.3441+16350G>A (n.3441+16350G>A)
c.*511C>T (n.*511C>T)
c.1686C>T (p.Ala562=)
c.276+16350G>A (n.276+16350G>A)
c.*220+6194C>T (n.*220+6194C>T)
c.810C>T (p.Ala270=)
c.837C>T (p.Ala279=)
c.1692C>T (p.Ala564=)
c.1506C>T (p.Ala502=)
c.1425C>T (p.Ala475=)
c.1131C>T (p.Ala377=)
c.1512C>T (p.Ala504=)
2g.48688030G>CCA426124905GTF2A1L,LHCGR,STON1-GTF2A1Lc.1767C>G (p.Ala589=)
c.*79C>G (n.*79C>G)
c.3441+16350G>C (n.3441+16350G>C)
c.*511C>G (n.*511C>G)
c.1686C>G (p.Ala562=)
c.276+16350G>C (n.276+16350G>C)
c.*220+6194C>G (n.*220+6194C>G)
c.810C>G (p.Ala270=)
c.837C>G (p.Ala279=)
c.1692C>G (p.Ala564=)
c.1506C>G (p.Ala502=)
c.1425C>G (p.Ala475=)
c.1131C>G (p.Ala377=)
c.1512C>G (p.Ala504=)
2g.48688030G>TCA426124906GTF2A1L,LHCGR,STON1-GTF2A1Lc.1767C>A (p.Ala589=)
c.*79C>A (n.*79C>A)
c.3441+16350G>T (n.3441+16350G>T)
c.*511C>A (n.*511C>A)
c.1686C>A (p.Ala562=)
c.276+16350G>T (n.276+16350G>T)
c.*220+6194C>A (n.*220+6194C>A)
c.810C>A (p.Ala270=)
c.837C>A (p.Ala279=)
c.1692C>A (p.Ala564=)
c.1506C>A (p.Ala502=)
c.1425C>A (p.Ala475=)
c.1131C>A (p.Ala377=)
c.1512C>A (p.Ala504=)
2g.48688031G>ACA46752774GTF2A1L,LHCGR,STON1-GTF2A1Lc.1766C>T (p.Ala589Val)
c.*78C>T (n.*78C>T)
c.3441+16351G>A (n.3441+16351G>A)
c.*510C>T (n.*510C>T)
c.1685C>T (p.Ala562Val)
c.276+16351G>A (n.276+16351G>A)
c.*220+6193C>T (n.*220+6193C>T)
c.809C>T (p.Ala270Val)
c.836C>T (p.Ala279Val)
c.1691C>T (p.Ala564Val)
c.1505C>T (p.Ala502Val)
c.1424C>T (p.Ala475Val)
c.1130C>T (p.Ala377Val)
c.1511C>T (p.Ala504Val)
 dbSNP COSMIC
2g.48688031G>CCA346744639GTF2A1L,LHCGR,STON1-GTF2A1Lc.1766C>G (p.Ala589Gly)
c.*78C>G (n.*78C>G)
c.3441+16351G>C (n.3441+16351G>C)
c.*510C>G (n.*510C>G)
c.1685C>G (p.Ala562Gly)
c.276+16351G>C (n.276+16351G>C)
c.*220+6193C>G (n.*220+6193C>G)
c.809C>G (p.Ala270Gly)
c.836C>G (p.Ala279Gly)
c.1691C>G (p.Ala564Gly)
c.1505C>G (p.Ala502Gly)
c.1424C>G (p.Ala475Gly)
c.1130C>G (p.Ala377Gly)
c.1511C>G (p.Ala504Gly)
2g.48688031G=CA1248600955GTF2A1L,LHCGR,STON1-GTF2A1Lc.1766C= (p.Ala589=)
c.*78C= (n.*78C=)
c.3441+16351G= (n.3441+16351G=)
c.*510C= (n.*510C=)
c.1685C= (p.Ala562=)
c.276+16351G= (n.276+16351G=)
c.*220+6193C= (n.*220+6193C=)
c.809C= (p.Ala270=)
c.836C= (p.Ala279=)
c.1691C= (p.Ala564=)
c.1505C= (p.Ala502=)
c.1424C= (p.Ala475=)
c.1130C= (p.Ala377=)
c.1511C= (p.Ala504=)
2g.48688031G>TCA346744641GTF2A1L,LHCGR,STON1-GTF2A1Lc.1766C>A (p.Ala589Asp)
c.*78C>A (n.*78C>A)
c.3441+16351G>T (n.3441+16351G>T)
c.*510C>A (n.*510C>A)
c.1685C>A (p.Ala562Asp)
c.276+16351G>T (n.276+16351G>T)
c.*220+6193C>A (n.*220+6193C>A)
c.809C>A (p.Ala270Asp)
c.836C>A (p.Ala279Asp)
c.1691C>A (p.Ala564Asp)
c.1505C>A (p.Ala502Asp)
c.1424C>A (p.Ala475Asp)
c.1130C>A (p.Ala377Asp)
c.1511C>A (p.Ala504Asp)
2g.48688032C>ACA346744645GTF2A1L,LHCGR,STON1-GTF2A1Lc.1765G>T (p.Ala589Ser)
c.*77G>T (n.*77G>T)
c.3441+16352C>A (n.3441+16352C>A)
c.*509G>T (n.*509G>T)
c.1684G>T (p.Ala562Ser)
c.276+16352C>A (n.276+16352C>A)
c.*220+6192G>T (n.*220+6192G>T)
c.808G>T (p.Ala270Ser)
c.835G>T (p.Ala279Ser)
c.1690G>T (p.Ala564Ser)
c.1504G>T (p.Ala502Ser)
c.1423G>T (p.Ala475Ser)
c.1129G>T (p.Ala377Ser)
c.1510G>T (p.Ala504Ser)
2g.48688032C=CA1248600956GTF2A1L,LHCGR,STON1-GTF2A1Lc.1765G= (p.Ala589=)
c.*77G= (n.*77G=)
c.3441+16352C= (n.3441+16352C=)
c.*509G= (n.*509G=)
c.1684G= (p.Ala562=)
c.276+16352C= (n.276+16352C=)
c.*220+6192G= (n.*220+6192G=)
c.808G= (p.Ala270=)
c.835G= (p.Ala279=)
c.1690G= (p.Ala564=)
c.1504G= (p.Ala502=)
c.1423G= (p.Ala475=)
c.1129G= (p.Ala377=)
c.1510G= (p.Ala504=)
2g.48688032C>GCA346744647GTF2A1L,LHCGR,STON1-GTF2A1Lc.1765G>C (p.Ala589Pro)
c.*77G>C (n.*77G>C)
c.3441+16352C>G (n.3441+16352C>G)
c.*509G>C (n.*509G>C)
c.1684G>C (p.Ala562Pro)
c.276+16352C>G (n.276+16352C>G)
c.*220+6192G>C (n.*220+6192G>C)
c.808G>C (p.Ala270Pro)
c.835G>C (p.Ala279Pro)
c.1690G>C (p.Ala564Pro)
c.1504G>C (p.Ala502Pro)
c.1423G>C (p.Ala475Pro)
c.1129G>C (p.Ala377Pro)
c.1510G>C (p.Ala504Pro)
2g.48688032C>TCA346744651GTF2A1L,LHCGR,STON1-GTF2A1Lc.1765G>A (p.Ala589Thr)
c.*77G>A (n.*77G>A)
c.3441+16352C>T (n.3441+16352C>T)
c.*509G>A (n.*509G>A)
c.1684G>A (p.Ala562Thr)
c.276+16352C>T (n.276+16352C>T)
c.*220+6192G>A (n.*220+6192G>A)
c.808G>A (p.Ala270Thr)
c.835G>A (p.Ala279Thr)
c.1690G>A (p.Ala564Thr)
c.1504G>A (p.Ala502Thr)
c.1423G>A (p.Ala475Thr)
c.1129G>A (p.Ala377Thr)
c.1510G>A (p.Ala504Thr)
2g.48688033A=CA1248600957GTF2A1L,LHCGR,STON1-GTF2A1Lc.1764T= (p.Phe588=)
c.*76T= (n.*76T=)
c.3441+16353A= (n.3441+16353A=)
c.*508T= (n.*508T=)
c.1683T= (p.Phe561=)
c.276+16353A= (n.276+16353A=)
c.*220+6191T= (n.*220+6191T=)
c.807T= (p.Phe269=)
c.834T= (p.Phe278=)
c.1689T= (p.Phe563=)
c.1503T= (p.Phe501=)
c.1422T= (p.Phe474=)
c.1128T= (p.Phe376=)
c.1509T= (p.Phe503=)
2g.48688033A>CCA346744655GTF2A1L,LHCGR,STON1-GTF2A1Lc.1764T>G (p.Phe588Leu)
c.*76T>G (n.*76T>G)
c.3441+16353A>C (n.3441+16353A>C)
c.*508T>G (n.*508T>G)
c.1683T>G (p.Phe561Leu)
c.276+16353A>C (n.276+16353A>C)
c.*220+6191T>G (n.*220+6191T>G)
c.807T>G (p.Phe269Leu)
c.834T>G (p.Phe278Leu)
c.1689T>G (p.Phe563Leu)
c.1503T>G (p.Phe501Leu)
c.1422T>G (p.Phe474Leu)
c.1128T>G (p.Phe376Leu)
c.1509T>G (p.Phe503Leu)
2g.48688033A>GCA426124907GTF2A1L,LHCGR,STON1-GTF2A1Lc.1764T>C (p.Phe588=)
c.*76T>C (n.*76T>C)
c.3441+16353A>G (n.3441+16353A>G)
c.*508T>C (n.*508T>C)
c.1683T>C (p.Phe561=)
c.276+16353A>G (n.276+16353A>G)
c.*220+6191T>C (n.*220+6191T>C)
c.807T>C (p.Phe269=)
c.834T>C (p.Phe278=)
c.1689T>C (p.Phe563=)
c.1503T>C (p.Phe501=)
c.1422T>C (p.Phe474=)
c.1128T>C (p.Phe376=)
c.1509T>C (p.Phe503=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688033A>TCA346744656GTF2A1L,LHCGR,STON1-GTF2A1Lc.1764T>A (p.Phe588Leu)
c.*76T>A (n.*76T>A)
c.3441+16353A>T (n.3441+16353A>T)
c.*508T>A (n.*508T>A)
c.1683T>A (p.Phe561Leu)
c.276+16353A>T (n.276+16353A>T)
c.*220+6191T>A (n.*220+6191T>A)
c.807T>A (p.Phe269Leu)
c.834T>A (p.Phe278Leu)
c.1689T>A (p.Phe563Leu)
c.1503T>A (p.Phe501Leu)
c.1422T>A (p.Phe474Leu)
c.1128T>A (p.Phe376Leu)
c.1509T>A (p.Phe503Leu)
2g.48688039dupCA532706158GTF2A1L,LHCGR,STON1-GTF2A1Lc.1764dup (p.Ala589CysfsTer17)
c.*76dup (n.*76dup)
c.3441+16359dup (n.3441+16359dup)
c.*508dup (n.*508dup)
c.1683dup (p.Ala562CysfsTer17)
c.276+16359dup (n.276+16359dup)
c.*220+6191dup (n.*220+6191dup)
c.807dup (p.Ala270CysfsTer17)
c.834dup (p.Ala279CysfsTer17)
c.1689dup (p.Ala564CysfsTer17)
c.1503dup (p.Ala502CysfsTer17)
c.1422dup (p.Ala475CysfsTer17)
c.1128dup (p.Ala377CysfsTer17)
c.1509dup (p.Ala504CysfsTer17)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.48688039delCA426124908GTF2A1L,LHCGR,STON1-GTF2A1Lc.1764del (p.Phe588LeufsTer14)
c.*76del (n.*76del)
c.3441+16359del (n.3441+16359del)
c.*508del (n.*508del)
c.1683del (p.Phe561LeufsTer14)
c.276+16359del (n.276+16359del)
c.*220+6191del (n.*220+6191del)
c.807del (p.Phe269LeufsTer14)
c.834del (p.Phe278LeufsTer14)
c.1689del (p.Phe563LeufsTer14)
c.1503del (p.Phe501LeufsTer14)
c.1422del (p.Phe474LeufsTer14)
c.1128del (p.Phe376LeufsTer14)
c.1509del (p.Phe503LeufsTer14)
 COSMIC
2g.48688033_48688034insTCA426124909GTF2A1L,LHCGR,STON1-GTF2A1Lc.1763_1764insA (p.Phe588LeufsTer18)
c.*75_*76insA (n.*75_*76insA)
c.3441+16353_3441+16354insT (n.3441+16353_3441+16354insT)
c.*507_*508insA (n.*507_*508insA)
c.1682_1683insA (p.Phe561LeufsTer18)
c.276+16353_276+16354insT (n.276+16353_276+16354insT)
c.*220+6190_*220+6191insA (n.*220+6190_*220+6191insA)
c.806_807insA (p.Phe269LeufsTer18)
c.833_834insA (p.Phe278LeufsTer18)
c.1688_1689insA (p.Phe563LeufsTer18)
c.1502_1503insA (p.Phe501LeufsTer18)
c.1421_1422insA (p.Phe474LeufsTer18)
c.1127_1128insA (p.Phe376LeufsTer18)
c.1508_1509insA (p.Phe503LeufsTer18)
2g.48688034A>CCA346744660GTF2A1L,LHCGR,STON1-GTF2A1Lc.1763T>G (p.Phe588Cys)
c.*75T>G (n.*75T>G)
c.3441+16354A>C (n.3441+16354A>C)
c.*507T>G (n.*507T>G)
c.1682T>G (p.Phe561Cys)
c.276+16354A>C (n.276+16354A>C)
c.*220+6190T>G (n.*220+6190T>G)
c.806T>G (p.Phe269Cys)
c.833T>G (p.Phe278Cys)
c.1688T>G (p.Phe563Cys)
c.1502T>G (p.Phe501Cys)
c.1421T>G (p.Phe474Cys)
c.1127T>G (p.Phe376Cys)
c.1508T>G (p.Phe503Cys)
2g.48688034A>GCA346744664GTF2A1L,LHCGR,STON1-GTF2A1Lc.1763T>C (p.Phe588Ser)
c.*75T>C (n.*75T>C)
c.3441+16354A>G (n.3441+16354A>G)
c.*507T>C (n.*507T>C)
c.1682T>C (p.Phe561Ser)
c.276+16354A>G (n.276+16354A>G)
c.*220+6190T>C (n.*220+6190T>C)
c.806T>C (p.Phe269Ser)
c.833T>C (p.Phe278Ser)
c.1688T>C (p.Phe563Ser)
c.1502T>C (p.Phe501Ser)
c.1421T>C (p.Phe474Ser)
c.1127T>C (p.Phe376Ser)
c.1508T>C (p.Phe503Ser)
2g.48688034A>TCA346744668GTF2A1L,LHCGR,STON1-GTF2A1Lc.1763T>A (p.Phe588Tyr)
c.*75T>A (n.*75T>A)
c.3441+16354A>T (n.3441+16354A>T)
c.*507T>A (n.*507T>A)
c.1682T>A (p.Phe561Tyr)
c.276+16354A>T (n.276+16354A>T)
c.*220+6190T>A (n.*220+6190T>A)
c.806T>A (p.Phe269Tyr)
c.833T>A (p.Phe278Tyr)
c.1688T>A (p.Phe563Tyr)
c.1502T>A (p.Phe501Tyr)
c.1421T>A (p.Phe474Tyr)
c.1127T>A (p.Phe376Tyr)
c.1508T>A (p.Phe503Tyr)
2g.48688035A>CCA346744671GTF2A1L,LHCGR,STON1-GTF2A1Lc.1762T>G (p.Phe588Val)
c.*74T>G (n.*74T>G)
c.3441+16355A>C (n.3441+16355A>C)
c.*506T>G (n.*506T>G)
c.1681T>G (p.Phe561Val)
c.276+16355A>C (n.276+16355A>C)
c.*220+6189T>G (n.*220+6189T>G)
c.805T>G (p.Phe269Val)
c.832T>G (p.Phe278Val)
c.1687T>G (p.Phe563Val)
c.1501T>G (p.Phe501Val)
c.1420T>G (p.Phe474Val)
c.1126T>G (p.Phe376Val)
c.1507T>G (p.Phe503Val)
2g.48688035A>GCA346744675GTF2A1L,LHCGR,STON1-GTF2A1Lc.1762T>C (p.Phe588Leu)
c.*74T>C (n.*74T>C)
c.3441+16355A>G (n.3441+16355A>G)
c.*506T>C (n.*506T>C)
c.1681T>C (p.Phe561Leu)
c.276+16355A>G (n.276+16355A>G)
c.*220+6189T>C (n.*220+6189T>C)
c.805T>C (p.Phe269Leu)
c.832T>C (p.Phe278Leu)
c.1687T>C (p.Phe563Leu)
c.1501T>C (p.Phe501Leu)
c.1420T>C (p.Phe474Leu)
c.1126T>C (p.Phe376Leu)
c.1507T>C (p.Phe503Leu)
2g.48688035A>TCA346744677GTF2A1L,LHCGR,STON1-GTF2A1Lc.1762T>A (p.Phe588Ile)
c.*74T>A (n.*74T>A)
c.3441+16355A>T (n.3441+16355A>T)
c.*506T>A (n.*506T>A)
c.1681T>A (p.Phe561Ile)
c.276+16355A>T (n.276+16355A>T)
c.*220+6189T>A (n.*220+6189T>A)
c.805T>A (p.Phe269Ile)
c.832T>A (p.Phe278Ile)
c.1687T>A (p.Phe563Ile)
c.1501T>A (p.Phe501Ile)
c.1420T>A (p.Phe474Ile)
c.1126T>A (p.Phe376Ile)
c.1507T>A (p.Phe503Ile)
2g.48688036A>CCA346744680GTF2A1L,LHCGR,STON1-GTF2A1Lc.1761T>G (p.Phe587Leu)
c.*73T>G (n.*73T>G)
c.3441+16356A>C (n.3441+16356A>C)
c.*505T>G (n.*505T>G)
c.1680T>G (p.Phe560Leu)
c.276+16356A>C (n.276+16356A>C)
c.*220+6188T>G (n.*220+6188T>G)
c.804T>G (p.Phe268Leu)
c.831T>G (p.Phe277Leu)
c.1686T>G (p.Phe562Leu)
c.1500T>G (p.Phe500Leu)
c.1419T>G (p.Phe473Leu)
c.1125T>G (p.Phe375Leu)
c.1506T>G (p.Phe502Leu)
2g.48688036A>GCA426124910GTF2A1L,LHCGR,STON1-GTF2A1Lc.1761T>C (p.Phe587=)
c.*73T>C (n.*73T>C)
c.3441+16356A>G (n.3441+16356A>G)
c.*505T>C (n.*505T>C)
c.1680T>C (p.Phe560=)
c.276+16356A>G (n.276+16356A>G)
c.*220+6188T>C (n.*220+6188T>C)
c.804T>C (p.Phe268=)
c.831T>C (p.Phe277=)
c.1686T>C (p.Phe562=)
c.1500T>C (p.Phe500=)
c.1419T>C (p.Phe473=)
c.1125T>C (p.Phe375=)
c.1506T>C (p.Phe502=)
2g.48688036A>TCA346744684GTF2A1L,LHCGR,STON1-GTF2A1Lc.1761T>A (p.Phe587Leu)
c.*73T>A (n.*73T>A)
c.3441+16356A>T (n.3441+16356A>T)
c.*505T>A (n.*505T>A)
c.1680T>A (p.Phe560Leu)
c.276+16356A>T (n.276+16356A>T)
c.*220+6188T>A (n.*220+6188T>A)
c.804T>A (p.Phe268Leu)
c.831T>A (p.Phe277Leu)
c.1686T>A (p.Phe562Leu)
c.1500T>A (p.Phe500Leu)
c.1419T>A (p.Phe473Leu)
c.1125T>A (p.Phe375Leu)
c.1506T>A (p.Phe502Leu)
2g.48688037A>CCA346744685GTF2A1L,LHCGR,STON1-GTF2A1Lc.1760T>G (p.Phe587Cys)
c.*72T>G (n.*72T>G)
c.3441+16357A>C (n.3441+16357A>C)
c.*504T>G (n.*504T>G)
c.1679T>G (p.Phe560Cys)
c.276+16357A>C (n.276+16357A>C)
c.*220+6187T>G (n.*220+6187T>G)
c.803T>G (p.Phe268Cys)
c.830T>G (p.Phe277Cys)
c.1685T>G (p.Phe562Cys)
c.1499T>G (p.Phe500Cys)
c.1418T>G (p.Phe473Cys)
c.1124T>G (p.Phe375Cys)
c.1505T>G (p.Phe502Cys)
2g.48688037A>GCA346744686GTF2A1L,LHCGR,STON1-GTF2A1Lc.1760T>C (p.Phe587Ser)
c.*72T>C (n.*72T>C)
c.3441+16357A>G (n.3441+16357A>G)
c.*504T>C (n.*504T>C)
c.1679T>C (p.Phe560Ser)
c.276+16357A>G (n.276+16357A>G)
c.*220+6187T>C (n.*220+6187T>C)
c.803T>C (p.Phe268Ser)
c.830T>C (p.Phe277Ser)
c.1685T>C (p.Phe562Ser)
c.1499T>C (p.Phe500Ser)
c.1418T>C (p.Phe473Ser)
c.1124T>C (p.Phe375Ser)
c.1505T>C (p.Phe502Ser)
2g.48688037A>TCA346744687GTF2A1L,LHCGR,STON1-GTF2A1Lc.1760T>A (p.Phe587Tyr)
c.*72T>A (n.*72T>A)
c.3441+16357A>T (n.3441+16357A>T)
c.*504T>A (n.*504T>A)
c.1679T>A (p.Phe560Tyr)
c.276+16357A>T (n.276+16357A>T)
c.*220+6187T>A (n.*220+6187T>A)
c.803T>A (p.Phe268Tyr)
c.830T>A (p.Phe277Tyr)
c.1685T>A (p.Phe562Tyr)
c.1499T>A (p.Phe500Tyr)
c.1418T>A (p.Phe473Tyr)
c.1124T>A (p.Phe375Tyr)
c.1505T>A (p.Phe502Tyr)
2g.48688037_48688038insTGGCTTCACTGGATCCA2520066976GTF2A1L,LHCGR,STON1-GTF2A1Lc.1759_1760insGATCCAGTGAAGCCA (p.Phe587Ter)
c.*71_*72insGATCCAGTGAAGCCA (n.*71_*72insGATCCAGTGAAGCCA)
c.3441+16357_3441+16358insTGGCTTCACTGGATC (n.3441+16357_3441+16358insTGGCTTCACTGGATC)
c.*503_*504insGATCCAGTGAAGCCA (n.*503_*504insGATCCAGTGAAGCCA)
c.1678_1679insGATCCAGTGAAGCCA (p.Phe560Ter)
c.276+16357_276+16358insTGGCTTCACTGGATC (n.276+16357_276+16358insTGGCTTCACTGGATC)
c.*220+6186_*220+6187insGATCCAGTGAAGCCA (n.*220+6186_*220+6187insGATCCAGTGAAGCCA)
c.802_803insGATCCAGTGAAGCCA (p.Phe268Ter)
c.829_830insGATCCAGTGAAGCCA (p.Phe277Ter)
c.1684_1685insGATCCAGTGAAGCCA (p.Phe562Ter)
c.1498_1499insGATCCAGTGAAGCCA (p.Phe500Ter)
c.1417_1418insGATCCAGTGAAGCCA (p.Phe473Ter)
c.1123_1124insGATCCAGTGAAGCCA (p.Phe375Ter)
c.1504_1505insGATCCAGTGAAGCCA (p.Phe502Ter)
2g.48688038A>CCA346744693GTF2A1L,LHCGR,STON1-GTF2A1Lc.1759T>G (p.Phe587Val)
c.*71T>G (n.*71T>G)
c.3441+16358A>C (n.3441+16358A>C)
c.*503T>G (n.*503T>G)
c.1678T>G (p.Phe560Val)
c.276+16358A>C (n.276+16358A>C)
c.*220+6186T>G (n.*220+6186T>G)
c.802T>G (p.Phe268Val)
c.829T>G (p.Phe277Val)
c.1684T>G (p.Phe562Val)
c.1498T>G (p.Phe500Val)
c.1417T>G (p.Phe473Val)
c.1123T>G (p.Phe375Val)
c.1504T>G (p.Phe502Val)
2g.48688038A>GCA346744695GTF2A1L,LHCGR,STON1-GTF2A1Lc.1759T>C (p.Phe587Leu)
c.*71T>C (n.*71T>C)
c.3441+16358A>G (n.3441+16358A>G)
c.*503T>C (n.*503T>C)
c.1678T>C (p.Phe560Leu)
c.276+16358A>G (n.276+16358A>G)
c.*220+6186T>C (n.*220+6186T>C)
c.802T>C (p.Phe268Leu)
c.829T>C (p.Phe277Leu)
c.1684T>C (p.Phe562Leu)
c.1498T>C (p.Phe500Leu)
c.1417T>C (p.Phe473Leu)
c.1123T>C (p.Phe375Leu)
c.1504T>C (p.Phe502Leu)
2g.48688038A>TCA346744691GTF2A1L,LHCGR,STON1-GTF2A1Lc.1759T>A (p.Phe587Ile)
c.*71T>A (n.*71T>A)
c.3441+16358A>T (n.3441+16358A>T)
c.*503T>A (n.*503T>A)
c.1678T>A (p.Phe560Ile)
c.276+16358A>T (n.276+16358A>T)
c.*220+6186T>A (n.*220+6186T>A)
c.802T>A (p.Phe268Ile)
c.829T>A (p.Phe277Ile)
c.1684T>A (p.Phe562Ile)
c.1498T>A (p.Phe500Ile)
c.1417T>A (p.Phe473Ile)
c.1123T>A (p.Phe375Ile)
c.1504T>A (p.Phe502Ile)
2g.48688039A=CA1248600958GTF2A1L,LHCGR,STON1-GTF2A1Lc.1758T= (p.Ser586=)
c.*70T= (n.*70T=)
c.3441+16359A= (n.3441+16359A=)
c.*502T= (n.*502T=)
c.1677T= (p.Ser559=)
c.276+16359A= (n.276+16359A=)
c.*220+6185T= (n.*220+6185T=)
c.801T= (p.Ser267=)
c.828T= (p.Ser276=)
c.1683T= (p.Ser561=)
c.1497T= (p.Ser499=)
c.1416T= (p.Ser472=)
c.1122T= (p.Ser374=)
c.1503T= (p.Ser501=)
2g.48688039A>CCA426124911GTF2A1L,LHCGR,STON1-GTF2A1Lc.1758T>G (p.Ser586=)
c.*70T>G (n.*70T>G)
c.3441+16359A>C (n.3441+16359A>C)
c.*502T>G (n.*502T>G)
c.1677T>G (p.Ser559=)
c.276+16359A>C (n.276+16359A>C)
c.*220+6185T>G (n.*220+6185T>G)
c.801T>G (p.Ser267=)
c.828T>G (p.Ser276=)
c.1683T>G (p.Ser561=)
c.1497T>G (p.Ser499=)
c.1416T>G (p.Ser472=)
c.1122T>G (p.Ser374=)
c.1503T>G (p.Ser501=)
2g.48688039A>GCA426124912GTF2A1L,LHCGR,STON1-GTF2A1Lc.1758T>C (p.Ser586=)
c.*70T>C (n.*70T>C)
c.3441+16359A>G (n.3441+16359A>G)
c.*502T>C (n.*502T>C)
c.1677T>C (p.Ser559=)
c.276+16359A>G (n.276+16359A>G)
c.*220+6185T>C (n.*220+6185T>C)
c.801T>C (p.Ser267=)
c.828T>C (p.Ser276=)
c.1683T>C (p.Ser561=)
c.1497T>C (p.Ser499=)
c.1416T>C (p.Ser472=)
c.1122T>C (p.Ser374=)
c.1503T>C (p.Ser501=)
2g.48688039A>TCA426124913GTF2A1L,LHCGR,STON1-GTF2A1Lc.1758T>A (p.Ser586=)
c.*70T>A (n.*70T>A)
c.3441+16359A>T (n.3441+16359A>T)
c.*502T>A (n.*502T>A)
c.1677T>A (p.Ser559=)
c.276+16359A>T (n.276+16359A>T)
c.*220+6185T>A (n.*220+6185T>A)
c.801T>A (p.Ser267=)
c.828T>A (p.Ser276=)
c.1683T>A (p.Ser561=)
c.1497T>A (p.Ser499=)
c.1416T>A (p.Ser472=)
c.1122T>A (p.Ser374=)
c.1503T>A (p.Ser501=)
 dbSNP
2g.48688042_48688043delCA2586969302GTF2A1L,LHCGR,STON1-GTF2A1Lc.1757_1758del (p.Ser586PhefsTer19)
c.*69_*70del (n.*69_*70del)
c.3441+16362_3441+16363del (n.3441+16362_3441+16363del)
c.*501_*502del (n.*501_*502del)
c.1676_1677del (p.Ser559PhefsTer19)
c.276+16362_276+16363del (n.276+16362_276+16363del)
c.*220+6184_*220+6185del (n.*220+6184_*220+6185del)
c.800_801del (p.Ser267PhefsTer19)
c.827_828del (p.Ser276PhefsTer19)
c.1682_1683del (p.Ser561PhefsTer19)
c.1496_1497del (p.Ser499PhefsTer19)
c.1415_1416del (p.Ser472PhefsTer19)
c.1121_1122del (p.Ser374PhefsTer19)
c.1502_1503del (p.Ser501PhefsTer19)
2g.48688040G>ACA346744700GTF2A1L,LHCGR,STON1-GTF2A1Lc.1757C>T (p.Ser586Phe)
c.*69C>T (n.*69C>T)
c.3441+16360G>A (n.3441+16360G>A)
c.*501C>T (n.*501C>T)
c.1676C>T (p.Ser559Phe)
c.276+16360G>A (n.276+16360G>A)
c.*220+6184C>T (n.*220+6184C>T)
c.800C>T (p.Ser267Phe)
c.827C>T (p.Ser276Phe)
c.1682C>T (p.Ser561Phe)
c.1496C>T (p.Ser499Phe)
c.1415C>T (p.Ser472Phe)
c.1121C>T (p.Ser374Phe)
c.1502C>T (p.Ser501Phe)
 COSMIC
2g.48688040G>CCA346744710GTF2A1L,LHCGR,STON1-GTF2A1Lc.1757C>G (p.Ser586Cys)
c.*69C>G (n.*69C>G)
c.3441+16360G>C (n.3441+16360G>C)
c.*501C>G (n.*501C>G)
c.1676C>G (p.Ser559Cys)
c.276+16360G>C (n.276+16360G>C)
c.*220+6184C>G (n.*220+6184C>G)
c.800C>G (p.Ser267Cys)
c.827C>G (p.Ser276Cys)
c.1682C>G (p.Ser561Cys)
c.1496C>G (p.Ser499Cys)
c.1415C>G (p.Ser472Cys)
c.1121C>G (p.Ser374Cys)
c.1502C>G (p.Ser501Cys)
 dbSNP
2g.48688040G=CA1248600959GTF2A1L,LHCGR,STON1-GTF2A1Lc.1757C= (p.Ser586=)
c.*69C= (n.*69C=)
c.3441+16360G= (n.3441+16360G=)
c.*501C= (n.*501C=)
c.1676C= (p.Ser559=)
c.276+16360G= (n.276+16360G=)
c.*220+6184C= (n.*220+6184C=)
c.800C= (p.Ser267=)
c.827C= (p.Ser276=)
c.1682C= (p.Ser561=)
c.1496C= (p.Ser499=)
c.1415C= (p.Ser472=)
c.1121C= (p.Ser374=)
c.1502C= (p.Ser501=)
2g.48688040G>TCA346744714GTF2A1L,LHCGR,STON1-GTF2A1Lc.1757C>A (p.Ser586Tyr)
c.*69C>A (n.*69C>A)
c.3441+16360G>T (n.3441+16360G>T)
c.*501C>A (n.*501C>A)
c.1676C>A (p.Ser559Tyr)
c.276+16360G>T (n.276+16360G>T)
c.*220+6184C>A (n.*220+6184C>A)
c.800C>A (p.Ser267Tyr)
c.827C>A (p.Ser276Tyr)
c.1682C>A (p.Ser561Tyr)
c.1496C>A (p.Ser499Tyr)
c.1415C>A (p.Ser472Tyr)
c.1121C>A (p.Ser374Tyr)
c.1502C>A (p.Ser501Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.48688041A>CCA346744717GTF2A1L,LHCGR,STON1-GTF2A1Lc.1756T>G (p.Ser586Ala)
c.*68T>G (n.*68T>G)
c.3441+16361A>C (n.3441+16361A>C)
c.*500T>G (n.*500T>G)
c.1675T>G (p.Ser559Ala)
c.276+16361A>C (n.276+16361A>C)
c.*220+6183T>G (n.*220+6183T>G)
c.799T>G (p.Ser267Ala)
c.826T>G (p.Ser276Ala)
c.1681T>G (p.Ser561Ala)
c.1495T>G (p.Ser499Ala)
c.1414T>G (p.Ser472Ala)
c.1120T>G (p.Ser374Ala)
c.1501T>G (p.Ser501Ala)
2g.48688041A>GCA346744721GTF2A1L,LHCGR,STON1-GTF2A1Lc.1756T>C (p.Ser586Pro)
c.*68T>C (n.*68T>C)
c.3441+16361A>G (n.3441+16361A>G)
c.*500T>C (n.*500T>C)
c.1675T>C (p.Ser559Pro)
c.276+16361A>G (n.276+16361A>G)
c.*220+6183T>C (n.*220+6183T>C)
c.799T>C (p.Ser267Pro)
c.826T>C (p.Ser276Pro)
c.1681T>C (p.Ser561Pro)
c.1495T>C (p.Ser499Pro)
c.1414T>C (p.Ser472Pro)
c.1120T>C (p.Ser374Pro)
c.1501T>C (p.Ser501Pro)
2g.48688041A>TCA346744727GTF2A1L,LHCGR,STON1-GTF2A1Lc.1756T>A (p.Ser586Thr)
c.*68T>A (n.*68T>A)
c.3441+16361A>T (n.3441+16361A>T)
c.*500T>A (n.*500T>A)
c.1675T>A (p.Ser559Thr)
c.276+16361A>T (n.276+16361A>T)
c.*220+6183T>A (n.*220+6183T>A)
c.799T>A (p.Ser267Thr)
c.826T>A (p.Ser276Thr)
c.1681T>A (p.Ser561Thr)
c.1495T>A (p.Ser499Thr)
c.1414T>A (p.Ser472Thr)
c.1120T>A (p.Ser374Thr)
c.1501T>A (p.Ser501Thr)
2g.48688043_48688046delCA2586969303GTF2A1L,LHCGR,STON1-GTF2A1Lc.1753_1756del (p.Ile585LeufsTer16)
c.*65_*68del (n.*65_*68del)
c.3441+16363_3441+16366del (n.3441+16363_3441+16366del)
c.*497_*500del (n.*497_*500del)
c.1672_1675del (p.Ile558LeufsTer16)
c.276+16363_276+16366del (n.276+16363_276+16366del)
c.*220+6180_*220+6183del (n.*220+6180_*220+6183del)
c.796_799del (p.Ile266LeufsTer16)
c.823_826del (p.Ile275LeufsTer16)
c.1678_1681del (p.Ile560LeufsTer16)
c.1492_1495del (p.Ile498LeufsTer16)
c.1411_1414del (p.Ile471LeufsTer16)
c.1117_1120del (p.Ile373LeufsTer16)
c.1498_1501del (p.Ile500LeufsTer16)
 gnomAD v4
2g.48688042G>ACA426124914GTF2A1L,LHCGR,STON1-GTF2A1Lc.1755C>T (p.Ile585=)
c.*67C>T (n.*67C>T)
c.3441+16362G>A (n.3441+16362G>A)
c.*499C>T (n.*499C>T)
c.1674C>T (p.Ile558=)
c.276+16362G>A (n.276+16362G>A)
c.*220+6182C>T (n.*220+6182C>T)
c.798C>T (p.Ile266=)
c.825C>T (p.Ile275=)
c.1680C>T (p.Ile560=)
c.1494C>T (p.Ile498=)
c.1413C>T (p.Ile471=)
c.1119C>T (p.Ile373=)
c.1500C>T (p.Ile500=)
2g.48688042G>CCA46752775GTF2A1L,LHCGR,STON1-GTF2A1Lc.1755C>G (p.Ile585Met)
c.*67C>G (n.*67C>G)
c.3441+16362G>C (n.3441+16362G>C)
c.*499C>G (n.*499C>G)
c.1674C>G (p.Ile558Met)
c.276+16362G>C (n.276+16362G>C)
c.*220+6182C>G (n.*220+6182C>G)
c.798C>G (p.Ile266Met)
c.825C>G (p.Ile275Met)
c.1680C>G (p.Ile560Met)
c.1494C>G (p.Ile498Met)
c.1413C>G (p.Ile471Met)
c.1119C>G (p.Ile373Met)
c.1500C>G (p.Ile500Met)
 dbSNP gnomAD v4
2g.48688042G=CA1248600960GTF2A1L,LHCGR,STON1-GTF2A1Lc.1755C= (p.Ile585=)
c.*67C= (n.*67C=)
c.3441+16362G= (n.3441+16362G=)
c.*499C= (n.*499C=)
c.1674C= (p.Ile558=)
c.276+16362G= (n.276+16362G=)
c.*220+6182C= (n.*220+6182C=)
c.798C= (p.Ile266=)
c.825C= (p.Ile275=)
c.1680C= (p.Ile560=)
c.1494C= (p.Ile498=)
c.1413C= (p.Ile471=)
c.1119C= (p.Ile373=)
c.1500C= (p.Ile500=)
2g.48688042G>TCA426124915GTF2A1L,LHCGR,STON1-GTF2A1Lc.1755C>A (p.Ile585=)
c.*67C>A (n.*67C>A)
c.3441+16362G>T (n.3441+16362G>T)
c.*499C>A (n.*499C>A)
c.1674C>A (p.Ile558=)
c.276+16362G>T (n.276+16362G>T)
c.*220+6182C>A (n.*220+6182C>A)
c.798C>A (p.Ile266=)
c.825C>A (p.Ile275=)
c.1680C>A (p.Ile560=)
c.1494C>A (p.Ile498=)
c.1413C>A (p.Ile471=)
c.1119C>A (p.Ile373=)
c.1500C>A (p.Ile500=)
2g.48688043A=CA1248600961GTF2A1L,LHCGR,STON1-GTF2A1Lc.1754T= (p.Ile585=)
c.*66T= (n.*66T=)
c.3441+16363A= (n.3441+16363A=)
c.*498T= (n.*498T=)
c.1673T= (p.Ile558=)
c.276+16363A= (n.276+16363A=)
c.*220+6181T= (n.*220+6181T=)
c.797T= (p.Ile266=)
c.824T= (p.Ile275=)
c.1679T= (p.Ile560=)
c.1493T= (p.Ile498=)
c.1412T= (p.Ile471=)
c.1118T= (p.Ile373=)
c.1499T= (p.Ile500=)
2g.48688043A>CCA346744732GTF2A1L,LHCGR,STON1-GTF2A1Lc.1754T>G (p.Ile585Ser)
c.*66T>G (n.*66T>G)
c.3441+16363A>C (n.3441+16363A>C)
c.*498T>G (n.*498T>G)
c.1673T>G (p.Ile558Ser)
c.276+16363A>C (n.276+16363A>C)
c.*220+6181T>G (n.*220+6181T>G)
c.797T>G (p.Ile266Ser)
c.824T>G (p.Ile275Ser)
c.1679T>G (p.Ile560Ser)
c.1493T>G (p.Ile498Ser)
c.1412T>G (p.Ile471Ser)
c.1118T>G (p.Ile373Ser)
c.1499T>G (p.Ile500Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.48688043A>GCA346744740GTF2A1L,LHCGR,STON1-GTF2A1Lc.1754T>C (p.Ile585Thr)
c.*66T>C (n.*66T>C)
c.3441+16363A>G (n.3441+16363A>G)
c.*498T>C (n.*498T>C)
c.1673T>C (p.Ile558Thr)
c.276+16363A>G (n.276+16363A>G)
c.*220+6181T>C (n.*220+6181T>C)
c.797T>C (p.Ile266Thr)
c.824T>C (p.Ile275Thr)
c.1679T>C (p.Ile560Thr)
c.1493T>C (p.Ile498Thr)
c.1412T>C (p.Ile471Thr)
c.1118T>C (p.Ile373Thr)
c.1499T>C (p.Ile500Thr)
2g.48688043A>TCA346744734GTF2A1L,LHCGR,STON1-GTF2A1Lc.1754T>A (p.Ile585Asn)
c.*66T>A (n.*66T>A)
c.3441+16363A>T (n.3441+16363A>T)
c.*498T>A (n.*498T>A)
c.1673T>A (p.Ile558Asn)
c.276+16363A>T (n.276+16363A>T)
c.*220+6181T>A (n.*220+6181T>A)
c.797T>A (p.Ile266Asn)
c.824T>A (p.Ile275Asn)
c.1679T>A (p.Ile560Asn)
c.1493T>A (p.Ile498Asn)
c.1412T>A (p.Ile471Asn)
c.1118T>A (p.Ile373Asn)
c.1499T>A (p.Ile500Asn)
2g.48688044T>ACA1652994GTF2A1L,LHCGR,STON1-GTF2A1Lc.1753A>T (p.Ile585Phe)
c.*65A>T (n.*65A>T)
c.3441+16364T>A (n.3441+16364T>A)
c.*497A>T (n.*497A>T)
c.1672A>T (p.Ile558Phe)
c.276+16364T>A (n.276+16364T>A)
c.*220+6180A>T (n.*220+6180A>T)
c.796A>T (p.Ile266Phe)
c.823A>T (p.Ile275Phe)
c.1678A>T (p.Ile560Phe)
c.1492A>T (p.Ile498Phe)
c.1411A>T (p.Ile471Phe)
c.1117A>T (p.Ile373Phe)
c.1498A>T (p.Ile500Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688044T>CCA346744743GTF2A1L,LHCGR,STON1-GTF2A1Lc.1753A>G (p.Ile585Val)
c.*65A>G (n.*65A>G)
c.3441+16364T>C (n.3441+16364T>C)
c.*497A>G (n.*497A>G)
c.1672A>G (p.Ile558Val)
c.276+16364T>C (n.276+16364T>C)
c.*220+6180A>G (n.*220+6180A>G)
c.796A>G (p.Ile266Val)
c.823A>G (p.Ile275Val)
c.1678A>G (p.Ile560Val)
c.1492A>G (p.Ile498Val)
c.1411A>G (p.Ile471Val)
c.1117A>G (p.Ile373Val)
c.1498A>G (p.Ile500Val)
 dbSNP gnomAD v3 gnomAD v4
2g.48688044T>GCA346744753GTF2A1L,LHCGR,STON1-GTF2A1Lc.1753A>C (p.Ile585Leu)
c.*65A>C (n.*65A>C)
c.3441+16364T>G (n.3441+16364T>G)
c.*497A>C (n.*497A>C)
c.1672A>C (p.Ile558Leu)
c.276+16364T>G (n.276+16364T>G)
c.*220+6180A>C (n.*220+6180A>C)
c.796A>C (p.Ile266Leu)
c.823A>C (p.Ile275Leu)
c.1678A>C (p.Ile560Leu)
c.1492A>C (p.Ile498Leu)
c.1411A>C (p.Ile471Leu)
c.1117A>C (p.Ile373Leu)
c.1498A>C (p.Ile500Leu)
 gnomAD v4
2g.48688044T=CA1248600962GTF2A1L,LHCGR,STON1-GTF2A1Lc.1753A= (p.Ile585=)
c.*65A= (n.*65A=)
c.3441+16364T= (n.3441+16364T=)
c.*497A= (n.*497A=)
c.1672A= (p.Ile558=)
c.276+16364T= (n.276+16364T=)
c.*220+6180A= (n.*220+6180A=)
c.796A= (p.Ile266=)
c.823A= (p.Ile275=)
c.1678A= (p.Ile560=)
c.1492A= (p.Ile498=)
c.1411A= (p.Ile471=)
c.1117A= (p.Ile373=)
c.1498A= (p.Ile500=)
2g.48688045A=CA1248600963GTF2A1L,LHCGR,STON1-GTF2A1Lc.1752T= (p.Pro584=)
c.*64T= (n.*64T=)
c.3441+16365A= (n.3441+16365A=)
c.*496T= (n.*496T=)
c.1671T= (p.Pro557=)
c.276+16365A= (n.276+16365A=)
c.*220+6179T= (n.*220+6179T=)
c.795T= (p.Pro265=)
c.822T= (p.Pro274=)
c.1677T= (p.Pro559=)
c.1491T= (p.Pro497=)
c.1410T= (p.Pro470=)
c.1116T= (p.Pro372=)
c.1497T= (p.Pro499=)
2g.48688045A>CCA426124917GTF2A1L,LHCGR,STON1-GTF2A1Lc.1752T>G (p.Pro584=)
c.*64T>G (n.*64T>G)
c.3441+16365A>C (n.3441+16365A>C)
c.*496T>G (n.*496T>G)
c.1671T>G (p.Pro557=)
c.276+16365A>C (n.276+16365A>C)
c.*220+6179T>G (n.*220+6179T>G)
c.795T>G (p.Pro265=)
c.822T>G (p.Pro274=)
c.1677T>G (p.Pro559=)
c.1491T>G (p.Pro497=)
c.1410T>G (p.Pro470=)
c.1116T>G (p.Pro372=)
c.1497T>G (p.Pro499=)
2g.48688045A>GCA1652995GTF2A1L,LHCGR,STON1-GTF2A1Lc.1752T>C (p.Pro584=)
c.*64T>C (n.*64T>C)
c.3441+16365A>G (n.3441+16365A>G)
c.*496T>C (n.*496T>C)
c.1671T>C (p.Pro557=)
c.276+16365A>G (n.276+16365A>G)
c.*220+6179T>C (n.*220+6179T>C)
c.795T>C (p.Pro265=)
c.822T>C (p.Pro274=)
c.1677T>C (p.Pro559=)
c.1491T>C (p.Pro497=)
c.1410T>C (p.Pro470=)
c.1116T>C (p.Pro372=)
c.1497T>C (p.Pro499=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688045A>TCA426124916GTF2A1L,LHCGR,STON1-GTF2A1Lc.1752T>A (p.Pro584=)
c.*64T>A (n.*64T>A)
c.3441+16365A>T (n.3441+16365A>T)
c.*496T>A (n.*496T>A)
c.1671T>A (p.Pro557=)
c.276+16365A>T (n.276+16365A>T)
c.*220+6179T>A (n.*220+6179T>A)
c.795T>A (p.Pro265=)
c.822T>A (p.Pro274=)
c.1677T>A (p.Pro559=)
c.1491T>A (p.Pro497=)
c.1410T>A (p.Pro470=)
c.1116T>A (p.Pro372=)
c.1497T>A (p.Pro499=)
2g.48688046G>ACA346744756GTF2A1L,LHCGR,STON1-GTF2A1Lc.1751C>T (p.Pro584Leu)
c.*63C>T (n.*63C>T)
c.3441+16366G>A (n.3441+16366G>A)
c.*495C>T (n.*495C>T)
c.1670C>T (p.Pro557Leu)
c.276+16366G>A (n.276+16366G>A)
c.*220+6178C>T (n.*220+6178C>T)
c.794C>T (p.Pro265Leu)
c.821C>T (p.Pro274Leu)
c.1676C>T (p.Pro559Leu)
c.1490C>T (p.Pro497Leu)
c.1409C>T (p.Pro470Leu)
c.1115C>T (p.Pro372Leu)
c.1496C>T (p.Pro499Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.48688046G>CCA346744758GTF2A1L,LHCGR,STON1-GTF2A1Lc.1751C>G (p.Pro584Arg)
c.*63C>G (n.*63C>G)
c.3441+16366G>C (n.3441+16366G>C)
c.*495C>G (n.*495C>G)
c.1670C>G (p.Pro557Arg)
c.276+16366G>C (n.276+16366G>C)
c.*220+6178C>G (n.*220+6178C>G)
c.794C>G (p.Pro265Arg)
c.821C>G (p.Pro274Arg)
c.1676C>G (p.Pro559Arg)
c.1490C>G (p.Pro497Arg)
c.1409C>G (p.Pro470Arg)
c.1115C>G (p.Pro372Arg)
c.1496C>G (p.Pro499Arg)
2g.48688046G=CA1248600964GTF2A1L,LHCGR,STON1-GTF2A1Lc.1751C= (p.Pro584=)
c.*63C= (n.*63C=)
c.3441+16366G= (n.3441+16366G=)
c.*495C= (n.*495C=)
c.1670C= (p.Pro557=)
c.276+16366G= (n.276+16366G=)
c.*220+6178C= (n.*220+6178C=)
c.794C= (p.Pro265=)
c.821C= (p.Pro274=)
c.1676C= (p.Pro559=)
c.1490C= (p.Pro497=)
c.1409C= (p.Pro470=)
c.1115C= (p.Pro372=)
c.1496C= (p.Pro499=)
2g.48688046G>TCA346744757GTF2A1L,LHCGR,STON1-GTF2A1Lc.1751C>A (p.Pro584His)
c.*63C>A (n.*63C>A)
c.3441+16366G>T (n.3441+16366G>T)
c.*495C>A (n.*495C>A)
c.1670C>A (p.Pro557His)
c.276+16366G>T (n.276+16366G>T)
c.*220+6178C>A (n.*220+6178C>A)
c.794C>A (p.Pro265His)
c.821C>A (p.Pro274His)
c.1676C>A (p.Pro559His)
c.1490C>A (p.Pro497His)
c.1409C>A (p.Pro470His)
c.1115C>A (p.Pro372His)
c.1496C>A (p.Pro499His)
2g.48688047G>ACA346744761GTF2A1L,LHCGR,STON1-GTF2A1Lc.1750C>T (p.Pro584Ser)
c.*62C>T (n.*62C>T)
c.3441+16367G>A (n.3441+16367G>A)
c.*494C>T (n.*494C>T)
c.1669C>T (p.Pro557Ser)
c.276+16367G>A (n.276+16367G>A)
c.*220+6177C>T (n.*220+6177C>T)
c.793C>T (p.Pro265Ser)
c.820C>T (p.Pro274Ser)
c.1675C>T (p.Pro559Ser)
c.1489C>T (p.Pro497Ser)
c.1408C>T (p.Pro470Ser)
c.1114C>T (p.Pro372Ser)
c.1495C>T (p.Pro499Ser)
2g.48688047G>CCA346744762GTF2A1L,LHCGR,STON1-GTF2A1Lc.1750C>G (p.Pro584Ala)
c.*62C>G (n.*62C>G)
c.3441+16367G>C (n.3441+16367G>C)
c.*494C>G (n.*494C>G)
c.1669C>G (p.Pro557Ala)
c.276+16367G>C (n.276+16367G>C)
c.*220+6177C>G (n.*220+6177C>G)
c.793C>G (p.Pro265Ala)
c.820C>G (p.Pro274Ala)
c.1675C>G (p.Pro559Ala)
c.1489C>G (p.Pro497Ala)
c.1408C>G (p.Pro470Ala)
c.1114C>G (p.Pro372Ala)
c.1495C>G (p.Pro499Ala)
2g.48688047G>TCA346744764GTF2A1L,LHCGR,STON1-GTF2A1Lc.1750C>A (p.Pro584Thr)
c.*62C>A (n.*62C>A)
c.3441+16367G>T (n.3441+16367G>T)
c.*494C>A (n.*494C>A)
c.1669C>A (p.Pro557Thr)
c.276+16367G>T (n.276+16367G>T)
c.*220+6177C>A (n.*220+6177C>A)
c.793C>A (p.Pro265Thr)
c.820C>A (p.Pro274Thr)
c.1675C>A (p.Pro559Thr)
c.1489C>A (p.Pro497Thr)
c.1408C>A (p.Pro470Thr)
c.1114C>A (p.Pro372Thr)
c.1495C>A (p.Pro499Thr)
2g.48688048T>ACA426124918GTF2A1L,LHCGR,STON1-GTF2A1Lc.1749A>T (p.Ala583=)
c.*61A>T (n.*61A>T)
c.3441+16368T>A (n.3441+16368T>A)
c.*493A>T (n.*493A>T)
c.1668A>T (p.Ala556=)
c.276+16368T>A (n.276+16368T>A)
c.*220+6176A>T (n.*220+6176A>T)
c.792A>T (p.Ala264=)
c.819A>T (p.Ala273=)
c.1674A>T (p.Ala558=)
c.1488A>T (p.Ala496=)
c.1407A>T (p.Ala469=)
c.1113A>T (p.Ala371=)
c.1494A>T (p.Ala498=)
2g.48688048T>CCA426124919GTF2A1L,LHCGR,STON1-GTF2A1Lc.1749A>G (p.Ala583=)
c.*61A>G (n.*61A>G)
c.3441+16368T>C (n.3441+16368T>C)
c.*493A>G (n.*493A>G)
c.1668A>G (p.Ala556=)
c.276+16368T>C (n.276+16368T>C)
c.*220+6176A>G (n.*220+6176A>G)
c.792A>G (p.Ala264=)
c.819A>G (p.Ala273=)
c.1674A>G (p.Ala558=)
c.1488A>G (p.Ala496=)
c.1407A>G (p.Ala469=)
c.1113A>G (p.Ala371=)
c.1494A>G (p.Ala498=)
 gnomAD v4
2g.48688048T>GCA426124920GTF2A1L,LHCGR,STON1-GTF2A1Lc.1749A>C (p.Ala583=)
c.*61A>C (n.*61A>C)
c.3441+16368T>G (n.3441+16368T>G)
c.*493A>C (n.*493A>C)
c.1668A>C (p.Ala556=)
c.276+16368T>G (n.276+16368T>G)
c.*220+6176A>C (n.*220+6176A>C)
c.792A>C (p.Ala264=)
c.819A>C (p.Ala273=)
c.1674A>C (p.Ala558=)
c.1488A>C (p.Ala496=)
c.1407A>C (p.Ala469=)
c.1113A>C (p.Ala371=)
c.1494A>C (p.Ala498=)
2g.48688049G>ACA346744766GTF2A1L,LHCGR,STON1-GTF2A1Lc.1748C>T (p.Ala583Val)
c.*60C>T (n.*60C>T)
c.3441+16369G>A (n.3441+16369G>A)
c.*492C>T (n.*492C>T)
c.1667C>T (p.Ala556Val)
c.276+16369G>A (n.276+16369G>A)
c.*220+6175C>T (n.*220+6175C>T)
c.791C>T (p.Ala264Val)
c.818C>T (p.Ala273Val)
c.1673C>T (p.Ala558Val)
c.1487C>T (p.Ala496Val)
c.1406C>T (p.Ala469Val)
c.1112C>T (p.Ala371Val)
c.1493C>T (p.Ala498Val)
 dbSNP
2g.48688049G>CCA346744769GTF2A1L,LHCGR,STON1-GTF2A1Lc.1748C>G (p.Ala583Gly)
c.*60C>G (n.*60C>G)
c.3441+16369G>C (n.3441+16369G>C)
c.*492C>G (n.*492C>G)
c.1667C>G (p.Ala556Gly)
c.276+16369G>C (n.276+16369G>C)
c.*220+6175C>G (n.*220+6175C>G)
c.791C>G (p.Ala264Gly)
c.818C>G (p.Ala273Gly)
c.1673C>G (p.Ala558Gly)
c.1487C>G (p.Ala496Gly)
c.1406C>G (p.Ala469Gly)
c.1112C>G (p.Ala371Gly)
c.1493C>G (p.Ala498Gly)
2g.48688049G=CA1248600965GTF2A1L,LHCGR,STON1-GTF2A1Lc.1748C= (p.Ala583=)
c.*60C= (n.*60C=)
c.3441+16369G= (n.3441+16369G=)
c.*492C= (n.*492C=)
c.1667C= (p.Ala556=)
c.276+16369G= (n.276+16369G=)
c.*220+6175C= (n.*220+6175C=)
c.791C= (p.Ala264=)
c.818C= (p.Ala273=)
c.1673C= (p.Ala558=)
c.1487C= (p.Ala496=)
c.1406C= (p.Ala469=)
c.1112C= (p.Ala371=)
c.1493C= (p.Ala498=)
2g.48688049G>TCA346744775GTF2A1L,LHCGR,STON1-GTF2A1Lc.1748C>A (p.Ala583Glu)
c.*60C>A (n.*60C>A)
c.3441+16369G>T (n.3441+16369G>T)
c.*492C>A (n.*492C>A)
c.1667C>A (p.Ala556Glu)
c.276+16369G>T (n.276+16369G>T)
c.*220+6175C>A (n.*220+6175C>A)
c.791C>A (p.Ala264Glu)
c.818C>A (p.Ala273Glu)
c.1673C>A (p.Ala558Glu)
c.1487C>A (p.Ala496Glu)
c.1406C>A (p.Ala469Glu)
c.1112C>A (p.Ala371Glu)
c.1493C>A (p.Ala498Glu)
 dbSNP gnomAD v4
2g.48688050C>ACA346744778GTF2A1L,LHCGR,STON1-GTF2A1Lc.1747G>T (p.Ala583Ser)
c.*59G>T (n.*59G>T)
c.3441+16370C>A (n.3441+16370C>A)
c.*491G>T (n.*491G>T)
c.1666G>T (p.Ala556Ser)
c.276+16370C>A (n.276+16370C>A)
c.*220+6174G>T (n.*220+6174G>T)
c.790G>T (p.Ala264Ser)
c.817G>T (p.Ala273Ser)
c.1672G>T (p.Ala558Ser)
c.1486G>T (p.Ala496Ser)
c.1405G>T (p.Ala469Ser)
c.1111G>T (p.Ala371Ser)
c.1492G>T (p.Ala498Ser)
2g.48688050C=CA1248600966GTF2A1L,LHCGR,STON1-GTF2A1Lc.1747G= (p.Ala583=)
c.*59G= (n.*59G=)
c.3441+16370C= (n.3441+16370C=)
c.*491G= (n.*491G=)
c.1666G= (p.Ala556=)
c.276+16370C= (n.276+16370C=)
c.*220+6174G= (n.*220+6174G=)
c.790G= (p.Ala264=)
c.817G= (p.Ala273=)
c.1672G= (p.Ala558=)
c.1486G= (p.Ala496=)
c.1405G= (p.Ala469=)
c.1111G= (p.Ala371=)
c.1492G= (p.Ala498=)
2g.48688050C>GCA346744779GTF2A1L,LHCGR,STON1-GTF2A1Lc.1747G>C (p.Ala583Pro)
c.*59G>C (n.*59G>C)
c.3441+16370C>G (n.3441+16370C>G)
c.*491G>C (n.*491G>C)
c.1666G>C (p.Ala556Pro)
c.276+16370C>G (n.276+16370C>G)
c.*220+6174G>C (n.*220+6174G>C)
c.790G>C (p.Ala264Pro)
c.817G>C (p.Ala273Pro)
c.1672G>C (p.Ala558Pro)
c.1486G>C (p.Ala496Pro)
c.1405G>C (p.Ala469Pro)
c.1111G>C (p.Ala371Pro)
c.1492G>C (p.Ala498Pro)
2g.48688050C>TCA346744782GTF2A1L,LHCGR,STON1-GTF2A1Lc.1747G>A (p.Ala583Thr)
c.*59G>A (n.*59G>A)
c.3441+16370C>T (n.3441+16370C>T)
c.*491G>A (n.*491G>A)
c.1666G>A (p.Ala556Thr)
c.276+16370C>T (n.276+16370C>T)
c.*220+6174G>A (n.*220+6174G>A)
c.790G>A (p.Ala264Thr)
c.817G>A (p.Ala273Thr)
c.1672G>A (p.Ala558Thr)
c.1486G>A (p.Ala496Thr)
c.1405G>A (p.Ala469Thr)
c.1111G>A (p.Ala371Thr)
c.1492G>A (p.Ala498Thr)
 dbSNP gnomAD v4 COSMIC
2g.48688051C>ACA346744786GTF2A1L,LHCGR,STON1-GTF2A1Lc.1746G>T (p.Met582Ile)
c.*58G>T (n.*58G>T)
c.3441+16371C>A (n.3441+16371C>A)
c.*490G>T (n.*490G>T)
c.1665G>T (p.Met555Ile)
c.276+16371C>A (n.276+16371C>A)
c.*220+6173G>T (n.*220+6173G>T)
c.789G>T (p.Met263Ile)
c.816G>T (p.Met272Ile)
c.1671G>T (p.Met557Ile)
c.1485G>T (p.Met495Ile)
c.1404G>T (p.Met468Ile)
c.1110G>T (p.Met370Ile)
c.1491G>T (p.Met497Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.48688051C=CA1248600967GTF2A1L,LHCGR,STON1-GTF2A1Lc.1746G= (p.Met582=)
c.*58G= (n.*58G=)
c.3441+16371C= (n.3441+16371C=)
c.*490G= (n.*490G=)
c.1665G= (p.Met555=)
c.276+16371C= (n.276+16371C=)
c.*220+6173G= (n.*220+6173G=)
c.789G= (p.Met263=)
c.816G= (p.Met272=)
c.1671G= (p.Met557=)
c.1485G= (p.Met495=)
c.1404G= (p.Met468=)
c.1110G= (p.Met370=)
c.1491G= (p.Met497=)
2g.48688051C>GCA346744789GTF2A1L,LHCGR,STON1-GTF2A1Lc.1746G>C (p.Met582Ile)
c.*58G>C (n.*58G>C)
c.3441+16371C>G (n.3441+16371C>G)
c.*490G>C (n.*490G>C)
c.1665G>C (p.Met555Ile)
c.276+16371C>G (n.276+16371C>G)
c.*220+6173G>C (n.*220+6173G>C)
c.789G>C (p.Met263Ile)
c.816G>C (p.Met272Ile)
c.1671G>C (p.Met557Ile)
c.1485G>C (p.Met495Ile)
c.1404G>C (p.Met468Ile)
c.1110G>C (p.Met370Ile)
c.1491G>C (p.Met497Ile)
2g.48688051C>TCA346744790GTF2A1L,LHCGR,STON1-GTF2A1Lc.1746G>A (p.Met582Ile)
c.*58G>A (n.*58G>A)
c.3441+16371C>T (n.3441+16371C>T)
c.*490G>A (n.*490G>A)
c.1665G>A (p.Met555Ile)
c.276+16371C>T (n.276+16371C>T)
c.*220+6173G>A (n.*220+6173G>A)
c.789G>A (p.Met263Ile)
c.816G>A (p.Met272Ile)
c.1671G>A (p.Met557Ile)
c.1485G>A (p.Met495Ile)
c.1404G>A (p.Met468Ile)
c.1110G>A (p.Met370Ile)
c.1491G>A (p.Met497Ile)
2g.48688052A=CA1248600968GTF2A1L,LHCGR,STON1-GTF2A1Lc.1745T= (p.Met582=)
c.*57T= (n.*57T=)
c.3441+16372A= (n.3441+16372A=)
c.*489T= (n.*489T=)
c.1664T= (p.Met555=)
c.276+16372A= (n.276+16372A=)
c.*220+6172T= (n.*220+6172T=)
c.788T= (p.Met263=)
c.815T= (p.Met272=)
c.1670T= (p.Met557=)
c.1484T= (p.Met495=)
c.1403T= (p.Met468=)
c.1109T= (p.Met370=)
c.1490T= (p.Met497=)
2g.48688052A>CCA346744793GTF2A1L,LHCGR,STON1-GTF2A1Lc.1745T>G (p.Met582Arg)
c.*57T>G (n.*57T>G)
c.3441+16372A>C (n.3441+16372A>C)
c.*489T>G (n.*489T>G)
c.1664T>G (p.Met555Arg)
c.276+16372A>C (n.276+16372A>C)
c.*220+6172T>G (n.*220+6172T>G)
c.788T>G (p.Met263Arg)
c.815T>G (p.Met272Arg)
c.1670T>G (p.Met557Arg)
c.1484T>G (p.Met495Arg)
c.1403T>G (p.Met468Arg)
c.1109T>G (p.Met370Arg)
c.1490T>G (p.Met497Arg)
2g.48688052A>GCA346744792GTF2A1L,LHCGR,STON1-GTF2A1Lc.1745T>C (p.Met582Thr)
c.*57T>C (n.*57T>C)
c.3441+16372A>G (n.3441+16372A>G)
c.*489T>C (n.*489T>C)
c.1664T>C (p.Met555Thr)
c.276+16372A>G (n.276+16372A>G)
c.*220+6172T>C (n.*220+6172T>C)
c.788T>C (p.Met263Thr)
c.815T>C (p.Met272Thr)
c.1670T>C (p.Met557Thr)
c.1484T>C (p.Met495Thr)
c.1403T>C (p.Met468Thr)
c.1109T>C (p.Met370Thr)
c.1490T>C (p.Met497Thr)
 dbSNP COSMIC
2g.48688052A>TCA346744791GTF2A1L,LHCGR,STON1-GTF2A1Lc.1745T>A (p.Met582Lys)
c.*57T>A (n.*57T>A)
c.3441+16372A>T (n.3441+16372A>T)
c.*489T>A (n.*489T>A)
c.1664T>A (p.Met555Lys)
c.276+16372A>T (n.276+16372A>T)
c.*220+6172T>A (n.*220+6172T>A)
c.788T>A (p.Met263Lys)
c.815T>A (p.Met272Lys)
c.1670T>A (p.Met557Lys)
c.1484T>A (p.Met495Lys)
c.1403T>A (p.Met468Lys)
c.1109T>A (p.Met370Lys)
c.1490T>A (p.Met497Lys)
2g.48688053T>ACA346744794GTF2A1L,LHCGR,STON1-GTF2A1Lc.1744A>T (p.Met582Leu)
c.*56A>T (n.*56A>T)
c.3441+16373T>A (n.3441+16373T>A)
c.*488A>T (n.*488A>T)
c.1663A>T (p.Met555Leu)
c.276+16373T>A (n.276+16373T>A)
c.*220+6171A>T (n.*220+6171A>T)
c.787A>T (p.Met263Leu)
c.814A>T (p.Met272Leu)
c.1669A>T (p.Met557Leu)
c.1483A>T (p.Met495Leu)
c.1402A>T (p.Met468Leu)
c.1108A>T (p.Met370Leu)
c.1489A>T (p.Met497Leu)
2g.48688053T>CCA346744805GTF2A1L,LHCGR,STON1-GTF2A1Lc.1744A>G (p.Met582Val)
c.*56A>G (n.*56A>G)
c.3441+16373T>C (n.3441+16373T>C)
c.*488A>G (n.*488A>G)
c.1663A>G (p.Met555Val)
c.276+16373T>C (n.276+16373T>C)
c.*220+6171A>G (n.*220+6171A>G)
c.787A>G (p.Met263Val)
c.814A>G (p.Met272Val)
c.1669A>G (p.Met557Val)
c.1483A>G (p.Met495Val)
c.1402A>G (p.Met468Val)
c.1108A>G (p.Met370Val)
c.1489A>G (p.Met497Val)
 gnomAD v4
2g.48688053T>GCA346744798GTF2A1L,LHCGR,STON1-GTF2A1Lc.1744A>C (p.Met582Leu)
c.*56A>C (n.*56A>C)
c.3441+16373T>G (n.3441+16373T>G)
c.*488A>C (n.*488A>C)
c.1663A>C (p.Met555Leu)
c.276+16373T>G (n.276+16373T>G)
c.*220+6171A>C (n.*220+6171A>C)
c.787A>C (p.Met263Leu)
c.814A>C (p.Met272Leu)
c.1669A>C (p.Met557Leu)
c.1483A>C (p.Met495Leu)
c.1402A>C (p.Met468Leu)
c.1108A>C (p.Met370Leu)
c.1489A>C (p.Met497Leu)
2g.48688054G>ACA426124921GTF2A1L,LHCGR,STON1-GTF2A1Lc.1743C>T (p.Cys581=)
c.*55C>T (n.*55C>T)
c.3441+16374G>A (n.3441+16374G>A)
c.*487C>T (n.*487C>T)
c.1662C>T (p.Cys554=)
c.276+16374G>A (n.276+16374G>A)
c.*220+6170C>T (n.*220+6170C>T)
c.786C>T (p.Cys262=)
c.813C>T (p.Cys271=)
c.1668C>T (p.Cys556=)
c.1482C>T (p.Cys494=)
c.1401C>T (p.Cys467=)
c.1107C>T (p.Cys369=)
c.1488C>T (p.Cys496=)
2g.48688054G>CCA346744809GTF2A1L,LHCGR,STON1-GTF2A1Lc.1743C>G (p.Cys581Trp)
c.*55C>G (n.*55C>G)
c.3441+16374G>C (n.3441+16374G>C)
c.*487C>G (n.*487C>G)
c.1662C>G (p.Cys554Trp)
c.276+16374G>C (n.276+16374G>C)
c.*220+6170C>G (n.*220+6170C>G)
c.786C>G (p.Cys262Trp)
c.813C>G (p.Cys271Trp)
c.1668C>G (p.Cys556Trp)
c.1482C>G (p.Cys494Trp)
c.1401C>G (p.Cys467Trp)
c.1107C>G (p.Cys369Trp)
c.1488C>G (p.Cys496Trp)
2g.48688054G>TCA346744810GTF2A1L,LHCGR,STON1-GTF2A1Lc.1743C>A (p.Cys581Ter)
c.*55C>A (n.*55C>A)
c.3441+16374G>T (n.3441+16374G>T)
c.*487C>A (n.*487C>A)
c.1662C>A (p.Cys554Ter)
c.276+16374G>T (n.276+16374G>T)
c.*220+6170C>A (n.*220+6170C>A)
c.786C>A (p.Cys262Ter)
c.813C>A (p.Cys271Ter)
c.1668C>A (p.Cys556Ter)
c.1482C>A (p.Cys494Ter)
c.1401C>A (p.Cys467Ter)
c.1107C>A (p.Cys369Ter)
c.1488C>A (p.Cys496Ter)
2g.48688055C>ACA346744814GTF2A1L,LHCGR,STON1-GTF2A1Lc.1742G>T (p.Cys581Phe)
c.*54G>T (n.*54G>T)
c.3441+16375C>A (n.3441+16375C>A)
c.*486G>T (n.*486G>T)
c.1661G>T (p.Cys554Phe)
c.276+16375C>A (n.276+16375C>A)
c.*220+6169G>T (n.*220+6169G>T)
c.785G>T (p.Cys262Phe)
c.812G>T (p.Cys271Phe)
c.1667G>T (p.Cys556Phe)
c.1481G>T (p.Cys494Phe)
c.1400G>T (p.Cys467Phe)
c.1106G>T (p.Cys369Phe)
c.1487G>T (p.Cys496Phe)
2g.48688055C>GCA346744829GTF2A1L,LHCGR,STON1-GTF2A1Lc.1742G>C (p.Cys581Ser)
c.*54G>C (n.*54G>C)
c.3441+16375C>G (n.3441+16375C>G)
c.*486G>C (n.*486G>C)
c.1661G>C (p.Cys554Ser)
c.276+16375C>G (n.276+16375C>G)
c.*220+6169G>C (n.*220+6169G>C)
c.785G>C (p.Cys262Ser)
c.812G>C (p.Cys271Ser)
c.1667G>C (p.Cys556Ser)
c.1481G>C (p.Cys494Ser)
c.1400G>C (p.Cys467Ser)
c.1106G>C (p.Cys369Ser)
c.1487G>C (p.Cys496Ser)
 gnomAD v4
2g.48688055C>TCA346744833GTF2A1L,LHCGR,STON1-GTF2A1Lc.1742G>A (p.Cys581Tyr)
c.*54G>A (n.*54G>A)
c.3441+16375C>T (n.3441+16375C>T)
c.*486G>A (n.*486G>A)
c.1661G>A (p.Cys554Tyr)
c.276+16375C>T (n.276+16375C>T)
c.*220+6169G>A (n.*220+6169G>A)
c.785G>A (p.Cys262Tyr)
c.812G>A (p.Cys271Tyr)
c.1667G>A (p.Cys556Tyr)
c.1481G>A (p.Cys494Tyr)
c.1400G>A (p.Cys467Tyr)
c.1106G>A (p.Cys369Tyr)
c.1487G>A (p.Cys496Tyr)
2g.48688056A>CCA346744835GTF2A1L,LHCGR,STON1-GTF2A1Lc.1741T>G (p.Cys581Gly)
c.*53T>G (n.*53T>G)
c.3441+16376A>C (n.3441+16376A>C)
c.*485T>G (n.*485T>G)
c.1660T>G (p.Cys554Gly)
c.276+16376A>C (n.276+16376A>C)
c.*220+6168T>G (n.*220+6168T>G)
c.784T>G (p.Cys262Gly)
c.811T>G (p.Cys271Gly)
c.1666T>G (p.Cys556Gly)
c.1480T>G (p.Cys494Gly)
c.1399T>G (p.Cys467Gly)
c.1105T>G (p.Cys369Gly)
c.1486T>G (p.Cys496Gly)
2g.48688056A>GCA346744840GTF2A1L,LHCGR,STON1-GTF2A1Lc.1741T>C (p.Cys581Arg)
c.*53T>C (n.*53T>C)
c.3441+16376A>G (n.3441+16376A>G)
c.*485T>C (n.*485T>C)
c.1660T>C (p.Cys554Arg)
c.276+16376A>G (n.276+16376A>G)
c.*220+6168T>C (n.*220+6168T>C)
c.784T>C (p.Cys262Arg)
c.811T>C (p.Cys271Arg)
c.1666T>C (p.Cys556Arg)
c.1480T>C (p.Cys494Arg)
c.1399T>C (p.Cys467Arg)
c.1105T>C (p.Cys369Arg)
c.1486T>C (p.Cys496Arg)
2g.48688056A>TCA346744842GTF2A1L,LHCGR,STON1-GTF2A1Lc.1741T>A (p.Cys581Ser)
c.*53T>A (n.*53T>A)
c.3441+16376A>T (n.3441+16376A>T)
c.*485T>A (n.*485T>A)
c.1660T>A (p.Cys554Ser)
c.276+16376A>T (n.276+16376A>T)
c.*220+6168T>A (n.*220+6168T>A)
c.784T>A (p.Cys262Ser)
c.811T>A (p.Cys271Ser)
c.1666T>A (p.Cys556Ser)
c.1480T>A (p.Cys494Ser)
c.1399T>A (p.Cys467Ser)
c.1105T>A (p.Cys369Ser)
c.1486T>A (p.Cys496Ser)
2g.48688057G>ACA426124922GTF2A1L,LHCGR,STON1-GTF2A1Lc.1740C>T (p.Thr580=)
c.*52C>T (n.*52C>T)
c.3441+16377G>A (n.3441+16377G>A)
c.*484C>T (n.*484C>T)
c.1659C>T (p.Thr553=)
c.276+16377G>A (n.276+16377G>A)
c.*220+6167C>T (n.*220+6167C>T)
c.783C>T (p.Thr261=)
c.810C>T (p.Thr270=)
c.1665C>T (p.Thr555=)
c.1479C>T (p.Thr493=)
c.1398C>T (p.Thr466=)
c.1104C>T (p.Thr368=)
c.1485C>T (p.Thr495=)
2g.48688057G>CCA426124923GTF2A1L,LHCGR,STON1-GTF2A1Lc.1740C>G (p.Thr580=)
c.*52C>G (n.*52C>G)
c.3441+16377G>C (n.3441+16377G>C)
c.*484C>G (n.*484C>G)
c.1659C>G (p.Thr553=)
c.276+16377G>C (n.276+16377G>C)
c.*220+6167C>G (n.*220+6167C>G)
c.783C>G (p.Thr261=)
c.810C>G (p.Thr270=)
c.1665C>G (p.Thr555=)
c.1479C>G (p.Thr493=)
c.1398C>G (p.Thr466=)
c.1104C>G (p.Thr368=)
c.1485C>G (p.Thr495=)
2g.48688057G>TCA426124924GTF2A1L,LHCGR,STON1-GTF2A1Lc.1740C>A (p.Thr580=)
c.*52C>A (n.*52C>A)
c.3441+16377G>T (n.3441+16377G>T)
c.*484C>A (n.*484C>A)
c.1659C>A (p.Thr553=)
c.276+16377G>T (n.276+16377G>T)
c.*220+6167C>A (n.*220+6167C>A)
c.783C>A (p.Thr261=)
c.810C>A (p.Thr270=)
c.1665C>A (p.Thr555=)
c.1479C>A (p.Thr493=)
c.1398C>A (p.Thr466=)
c.1104C>A (p.Thr368=)
c.1485C>A (p.Thr495=)
2g.48688058G>ACA1652996GTF2A1L,LHCGR,STON1-GTF2A1Lc.1739C>T (p.Thr580Ile)
c.*51C>T (n.*51C>T)
c.3441+16378G>A (n.3441+16378G>A)
c.*483C>T (n.*483C>T)
c.1658C>T (p.Thr553Ile)
c.276+16378G>A (n.276+16378G>A)
c.*220+6166C>T (n.*220+6166C>T)
c.782C>T (p.Thr261Ile)
c.809C>T (p.Thr270Ile)
c.1664C>T (p.Thr555Ile)
c.1478C>T (p.Thr493Ile)
c.1397C>T (p.Thr466Ile)
c.1103C>T (p.Thr368Ile)
c.1484C>T (p.Thr495Ile)
 dbSNP ExAC gnomAD v2
2g.48688058G>CCA346744852GTF2A1L,LHCGR,STON1-GTF2A1Lc.1739C>G (p.Thr580Ser)
c.*51C>G (n.*51C>G)
c.3441+16378G>C (n.3441+16378G>C)
c.*483C>G (n.*483C>G)
c.1658C>G (p.Thr553Ser)
c.276+16378G>C (n.276+16378G>C)
c.*220+6166C>G (n.*220+6166C>G)
c.782C>G (p.Thr261Ser)
c.809C>G (p.Thr270Ser)
c.1664C>G (p.Thr555Ser)
c.1478C>G (p.Thr493Ser)
c.1397C>G (p.Thr466Ser)
c.1103C>G (p.Thr368Ser)
c.1484C>G (p.Thr495Ser)
2g.48688058G=CA1248600969GTF2A1L,LHCGR,STON1-GTF2A1Lc.1739C= (p.Thr580=)
c.*51C= (n.*51C=)
c.3441+16378G= (n.3441+16378G=)
c.*483C= (n.*483C=)
c.1658C= (p.Thr553=)
c.276+16378G= (n.276+16378G=)
c.*220+6166C= (n.*220+6166C=)
c.782C= (p.Thr261=)
c.809C= (p.Thr270=)
c.1664C= (p.Thr555=)
c.1478C= (p.Thr493=)
c.1397C= (p.Thr466=)
c.1103C= (p.Thr368=)
c.1484C= (p.Thr495=)
2g.48688058G>TCA346744856GTF2A1L,LHCGR,STON1-GTF2A1Lc.1739C>A (p.Thr580Asn)
c.*51C>A (n.*51C>A)
c.3441+16378G>T (n.3441+16378G>T)
c.*483C>A (n.*483C>A)
c.1658C>A (p.Thr553Asn)
c.276+16378G>T (n.276+16378G>T)
c.*220+6166C>A (n.*220+6166C>A)
c.782C>A (p.Thr261Asn)
c.809C>A (p.Thr270Asn)
c.1664C>A (p.Thr555Asn)
c.1478C>A (p.Thr493Asn)
c.1397C>A (p.Thr466Asn)
c.1103C>A (p.Thr368Asn)
c.1484C>A (p.Thr495Asn)
 dbSNP
2g.48688059T>ACA346744859GTF2A1L,LHCGR,STON1-GTF2A1Lc.1738A>T (p.Thr580Ser)
c.*50A>T (n.*50A>T)
c.3441+16379T>A (n.3441+16379T>A)
c.*482A>T (n.*482A>T)
c.1657A>T (p.Thr553Ser)
c.276+16379T>A (n.276+16379T>A)
c.*220+6165A>T (n.*220+6165A>T)
c.781A>T (p.Thr261Ser)
c.808A>T (p.Thr270Ser)
c.1663A>T (p.Thr555Ser)
c.1477A>T (p.Thr493Ser)
c.1396A>T (p.Thr466Ser)
c.1102A>T (p.Thr368Ser)
c.1483A>T (p.Thr495Ser)
2g.48688059T>CCA346744861GTF2A1L,LHCGR,STON1-GTF2A1Lc.1738A>G (p.Thr580Ala)
c.*50A>G (n.*50A>G)
c.3441+16379T>C (n.3441+16379T>C)
c.*482A>G (n.*482A>G)
c.1657A>G (p.Thr553Ala)
c.276+16379T>C (n.276+16379T>C)
c.*220+6165A>G (n.*220+6165A>G)
c.781A>G (p.Thr261Ala)
c.808A>G (p.Thr270Ala)
c.1663A>G (p.Thr555Ala)
c.1477A>G (p.Thr493Ala)
c.1396A>G (p.Thr466Ala)
c.1102A>G (p.Thr368Ala)
c.1483A>G (p.Thr495Ala)
2g.48688059T>GCA346744872GTF2A1L,LHCGR,STON1-GTF2A1Lc.1738A>C (p.Thr580Pro)
c.*50A>C (n.*50A>C)
c.3441+16379T>G (n.3441+16379T>G)
c.*482A>C (n.*482A>C)
c.1657A>C (p.Thr553Pro)
c.276+16379T>G (n.276+16379T>G)
c.*220+6165A>C (n.*220+6165A>C)
c.781A>C (p.Thr261Pro)
c.808A>C (p.Thr270Pro)
c.1663A>C (p.Thr555Pro)
c.1477A>C (p.Thr493Pro)
c.1396A>C (p.Thr466Pro)
c.1102A>C (p.Thr368Pro)
c.1483A>C (p.Thr495Pro)
2g.48688060G>ACA426124925GTF2A1L,LHCGR,STON1-GTF2A1Lc.1737C>T (p.Phe579=)
c.*49C>T (n.*49C>T)
c.3441+16380G>A (n.3441+16380G>A)
c.*481C>T (n.*481C>T)
c.1656C>T (p.Phe552=)
c.276+16380G>A (n.276+16380G>A)
c.*220+6164C>T (n.*220+6164C>T)
c.780C>T (p.Phe260=)
c.807C>T (p.Phe269=)
c.1662C>T (p.Phe554=)
c.1476C>T (p.Phe492=)
c.1395C>T (p.Phe465=)
c.1101C>T (p.Phe367=)
c.1482C>T (p.Phe494=)
2g.48688060G>CCA346744876GTF2A1L,LHCGR,STON1-GTF2A1Lc.1737C>G (p.Phe579Leu)
c.*49C>G (n.*49C>G)
c.3441+16380G>C (n.3441+16380G>C)
c.*481C>G (n.*481C>G)
c.1656C>G (p.Phe552Leu)
c.276+16380G>C (n.276+16380G>C)
c.*220+6164C>G (n.*220+6164C>G)
c.780C>G (p.Phe260Leu)
c.807C>G (p.Phe269Leu)
c.1662C>G (p.Phe554Leu)
c.1476C>G (p.Phe492Leu)
c.1395C>G (p.Phe465Leu)
c.1101C>G (p.Phe367Leu)
c.1482C>G (p.Phe494Leu)
2g.48688060G>TCA346744880GTF2A1L,LHCGR,STON1-GTF2A1Lc.1737C>A (p.Phe579Leu)
c.*49C>A (n.*49C>A)
c.3441+16380G>T (n.3441+16380G>T)
c.*481C>A (n.*481C>A)
c.1656C>A (p.Phe552Leu)
c.276+16380G>T (n.276+16380G>T)
c.*220+6164C>A (n.*220+6164C>A)
c.780C>A (p.Phe260Leu)
c.807C>A (p.Phe269Leu)
c.1662C>A (p.Phe554Leu)
c.1476C>A (p.Phe492Leu)
c.1395C>A (p.Phe465Leu)
c.1101C>A (p.Phe367Leu)
c.1482C>A (p.Phe494Leu)
2g.48688061A>CCA346744883GTF2A1L,LHCGR,STON1-GTF2A1Lc.1736T>G (p.Phe579Cys)
c.*48T>G (n.*48T>G)
c.3441+16381A>C (n.3441+16381A>C)
c.*480T>G (n.*480T>G)
c.1655T>G (p.Phe552Cys)
c.276+16381A>C (n.276+16381A>C)
c.*220+6163T>G (n.*220+6163T>G)
c.779T>G (p.Phe260Cys)
c.806T>G (p.Phe269Cys)
c.1661T>G (p.Phe554Cys)
c.1475T>G (p.Phe492Cys)
c.1394T>G (p.Phe465Cys)
c.1100T>G (p.Phe367Cys)
c.1481T>G (p.Phe494Cys)
2g.48688061A>GCA346744887GTF2A1L,LHCGR,STON1-GTF2A1Lc.1736T>C (p.Phe579Ser)
c.*48T>C (n.*48T>C)
c.3441+16381A>G (n.3441+16381A>G)
c.*480T>C (n.*480T>C)
c.1655T>C (p.Phe552Ser)
c.276+16381A>G (n.276+16381A>G)
c.*220+6163T>C (n.*220+6163T>C)
c.779T>C (p.Phe260Ser)
c.806T>C (p.Phe269Ser)
c.1661T>C (p.Phe554Ser)
c.1475T>C (p.Phe492Ser)
c.1394T>C (p.Phe465Ser)
c.1100T>C (p.Phe367Ser)
c.1481T>C (p.Phe494Ser)
2g.48688061A>TCA346744889GTF2A1L,LHCGR,STON1-GTF2A1Lc.1736T>A (p.Phe579Tyr)
c.*48T>A (n.*48T>A)
c.3441+16381A>T (n.3441+16381A>T)
c.*480T>A (n.*480T>A)
c.1655T>A (p.Phe552Tyr)
c.276+16381A>T (n.276+16381A>T)
c.*220+6163T>A (n.*220+6163T>A)
c.779T>A (p.Phe260Tyr)
c.806T>A (p.Phe269Tyr)
c.1661T>A (p.Phe554Tyr)
c.1475T>A (p.Phe492Tyr)
c.1394T>A (p.Phe465Tyr)
c.1100T>A (p.Phe367Tyr)
c.1481T>A (p.Phe494Tyr)
2g.48688062A>CCA346744892GTF2A1L,LHCGR,STON1-GTF2A1Lc.1735T>G (p.Phe579Val)
c.*47T>G (n.*47T>G)
c.3441+16382A>C (n.3441+16382A>C)
c.*479T>G (n.*479T>G)
c.1654T>G (p.Phe552Val)
c.276+16382A>C (n.276+16382A>C)
c.*220+6162T>G (n.*220+6162T>G)
c.778T>G (p.Phe260Val)
c.805T>G (p.Phe269Val)
c.1660T>G (p.Phe554Val)
c.1474T>G (p.Phe492Val)
c.1393T>G (p.Phe465Val)
c.1099T>G (p.Phe367Val)
c.1480T>G (p.Phe494Val)
 gnomAD v4
2g.48688062A>GCA346744894GTF2A1L,LHCGR,STON1-GTF2A1Lc.1735T>C (p.Phe579Leu)
c.*47T>C (n.*47T>C)
c.3441+16382A>G (n.3441+16382A>G)
c.*479T>C (n.*479T>C)
c.1654T>C (p.Phe552Leu)
c.276+16382A>G (n.276+16382A>G)
c.*220+6162T>C (n.*220+6162T>C)
c.778T>C (p.Phe260Leu)
c.805T>C (p.Phe269Leu)
c.1660T>C (p.Phe554Leu)
c.1474T>C (p.Phe492Leu)
c.1393T>C (p.Phe465Leu)
c.1099T>C (p.Phe367Leu)
c.1480T>C (p.Phe494Leu)
2g.48688062A>TCA346744897GTF2A1L,LHCGR,STON1-GTF2A1Lc.1735T>A (p.Phe579Ile)
c.*47T>A (n.*47T>A)
c.3441+16382A>T (n.3441+16382A>T)
c.*479T>A (n.*479T>A)
c.1654T>A (p.Phe552Ile)
c.276+16382A>T (n.276+16382A>T)
c.*220+6162T>A (n.*220+6162T>A)
c.778T>A (p.Phe260Ile)
c.805T>A (p.Phe269Ile)
c.1660T>A (p.Phe554Ile)
c.1474T>A (p.Phe492Ile)
c.1393T>A (p.Phe465Ile)
c.1099T>A (p.Phe367Ile)
c.1480T>A (p.Phe494Ile)
2g.48688063A>CCA346744901GTF2A1L,LHCGR,STON1-GTF2A1Lc.1734T>G (p.Asp578Glu)
c.*46T>G (n.*46T>G)
c.3441+16383A>C (n.3441+16383A>C)
c.*478T>G (n.*478T>G)
c.1653T>G (p.Asp551Glu)
c.276+16383A>C (n.276+16383A>C)
c.*220+6161T>G (n.*220+6161T>G)
c.777T>G (p.Asp259Glu)
c.804T>G (p.Asp268Glu)
c.1659T>G (p.Asp553Glu)
c.1473T>G (p.Asp491Glu)
c.1392T>G (p.Asp464Glu)
c.1098T>G (p.Asp366Glu)
c.1479T>G (p.Asp493Glu)
2g.48688063A>GCA426124926GTF2A1L,LHCGR,STON1-GTF2A1Lc.1734T>C (p.Asp578=)
c.*46T>C (n.*46T>C)
c.3441+16383A>G (n.3441+16383A>G)
c.*478T>C (n.*478T>C)
c.1653T>C (p.Asp551=)
c.276+16383A>G (n.276+16383A>G)
c.*220+6161T>C (n.*220+6161T>C)
c.777T>C (p.Asp259=)
c.804T>C (p.Asp268=)
c.1659T>C (p.Asp553=)
c.1473T>C (p.Asp491=)
c.1392T>C (p.Asp464=)
c.1098T>C (p.Asp366=)
c.1479T>C (p.Asp493=)
2g.48688063A>TCA346744904GTF2A1L,LHCGR,STON1-GTF2A1Lc.1734T>A (p.Asp578Glu)
c.*46T>A (n.*46T>A)
c.3441+16383A>T (n.3441+16383A>T)
c.*478T>A (n.*478T>A)
c.1653T>A (p.Asp551Glu)
c.276+16383A>T (n.276+16383A>T)
c.*220+6161T>A (n.*220+6161T>A)
c.777T>A (p.Asp259Glu)
c.804T>A (p.Asp268Glu)
c.1659T>A (p.Asp553Glu)
c.1473T>A (p.Asp491Glu)
c.1392T>A (p.Asp464Glu)
c.1098T>A (p.Asp366Glu)
c.1479T>A (p.Asp493Glu)
2g.48688064T>ACA346744908GTF2A1L,LHCGR,STON1-GTF2A1Lc.1733A>T (p.Asp578Val)
c.*45A>T (n.*45A>T)
c.3441+16384T>A (n.3441+16384T>A)
c.*477A>T (n.*477A>T)
c.1652A>T (p.Asp551Val)
c.276+16384T>A (n.276+16384T>A)
c.*220+6160A>T (n.*220+6160A>T)
c.776A>T (p.Asp259Val)
c.803A>T (p.Asp268Val)
c.1658A>T (p.Asp553Val)
c.1472A>T (p.Asp491Val)
c.1391A>T (p.Asp464Val)
c.1097A>T (p.Asp366Val)
c.1478A>T (p.Asp493Val)
2g.48688064T>CCA123916GTF2A1L,LHCGR,STON1-GTF2A1Lc.1733A>G (p.Asp578Gly)
c.*45A>G (n.*45A>G)
c.3441+16384T>C (n.3441+16384T>C)
c.*477A>G (n.*477A>G)
c.1652A>G (p.Asp551Gly)
c.276+16384T>C (n.276+16384T>C)
c.*220+6160A>G (n.*220+6160A>G)
c.776A>G (p.Asp259Gly)
c.803A>G (p.Asp268Gly)
c.1658A>G (p.Asp553Gly)
c.1472A>G (p.Asp491Gly)
c.1391A>G (p.Asp464Gly)
c.1097A>G (p.Asp366Gly)
c.1478A>G (p.Asp493Gly)
 ClinVar dbSNP
2g.48688064T>GCA346744915GTF2A1L,LHCGR,STON1-GTF2A1Lc.1733A>C (p.Asp578Ala)
c.*45A>C (n.*45A>C)
c.3441+16384T>G (n.3441+16384T>G)
c.*477A>C (n.*477A>C)
c.1652A>C (p.Asp551Ala)
c.276+16384T>G (n.276+16384T>G)
c.*220+6160A>C (n.*220+6160A>C)
c.776A>C (p.Asp259Ala)
c.803A>C (p.Asp268Ala)
c.1658A>C (p.Asp553Ala)
c.1472A>C (p.Asp491Ala)
c.1391A>C (p.Asp464Ala)
c.1097A>C (p.Asp366Ala)
c.1478A>C (p.Asp493Ala)
 ClinVar dbSNP
2g.48688064T=CA1248600970GTF2A1L,LHCGR,STON1-GTF2A1Lc.1733A= (p.Asp578=)
c.*45A= (n.*45A=)
c.3441+16384T= (n.3441+16384T=)
c.*477A= (n.*477A=)
c.1652A= (p.Asp551=)
c.276+16384T= (n.276+16384T=)
c.*220+6160A= (n.*220+6160A=)
c.776A= (p.Asp259=)
c.803A= (p.Asp268=)
c.1658A= (p.Asp553=)
c.1472A= (p.Asp491=)
c.1391A= (p.Asp464=)
c.1097A= (p.Asp366=)
c.1478A= (p.Asp493=)
2g.48688065C>ACA214133GTF2A1L,LHCGR,STON1-GTF2A1Lc.1732G>T (p.Asp578Tyr)
c.*44G>T (n.*44G>T)
c.3441+16385C>A (n.3441+16385C>A)
c.*476G>T (n.*476G>T)
c.1651G>T (p.Asp551Tyr)
c.276+16385C>A (n.276+16385C>A)
c.*220+6159G>T (n.*220+6159G>T)
c.775G>T (p.Asp259Tyr)
c.802G>T (p.Asp268Tyr)
c.1657G>T (p.Asp553Tyr)
c.1471G>T (p.Asp491Tyr)
c.1390G>T (p.Asp464Tyr)
c.1096G>T (p.Asp366Tyr)
c.1477G>T (p.Asp493Tyr)
 ClinVar dbSNP
2g.48688065C=CA1248600971GTF2A1L,LHCGR,STON1-GTF2A1Lc.1732G= (p.Asp578=)
c.*44G= (n.*44G=)
c.3441+16385C= (n.3441+16385C=)
c.*476G= (n.*476G=)
c.1651G= (p.Asp551=)
c.276+16385C= (n.276+16385C=)
c.*220+6159G= (n.*220+6159G=)
c.775G= (p.Asp259=)
c.802G= (p.Asp268=)
c.1657G= (p.Asp553=)
c.1471G= (p.Asp491=)
c.1390G= (p.Asp464=)
c.1096G= (p.Asp366=)
c.1477G= (p.Asp493=)
2g.48688065C>GCA123930GTF2A1L,LHCGR,STON1-GTF2A1Lc.1732G>C (p.Asp578His)
c.*44G>C (n.*44G>C)
c.3441+16385C>G (n.3441+16385C>G)
c.*476G>C (n.*476G>C)
c.1651G>C (p.Asp551His)
c.276+16385C>G (n.276+16385C>G)
c.*220+6159G>C (n.*220+6159G>C)
c.775G>C (p.Asp259His)
c.802G>C (p.Asp268His)
c.1657G>C (p.Asp553His)
c.1471G>C (p.Asp491His)
c.1390G>C (p.Asp464His)
c.1096G>C (p.Asp366His)
c.1477G>C (p.Asp493His)
 ClinVar dbSNP
2g.48688065C>TCA1652997GTF2A1L,LHCGR,STON1-GTF2A1Lc.1732G>A (p.Asp578Asn)
c.*44G>A (n.*44G>A)
c.3441+16385C>T (n.3441+16385C>T)
c.*476G>A (n.*476G>A)
c.1651G>A (p.Asp551Asn)
c.276+16385C>T (n.276+16385C>T)
c.*220+6159G>A (n.*220+6159G>A)
c.775G>A (p.Asp259Asn)
c.802G>A (p.Asp268Asn)
c.1657G>A (p.Asp553Asn)
c.1471G>A (p.Asp491Asn)
c.1390G>A (p.Asp464Asn)
c.1096G>A (p.Asp366Asn)
c.1477G>A (p.Asp493Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688066G>ACA1652998GTF2A1L,LHCGR,STON1-GTF2A1Lc.1731C>T (p.Thr577=)
c.*43C>T (n.*43C>T)
c.3441+16386G>A (n.3441+16386G>A)
c.*475C>T (n.*475C>T)
c.1650C>T (p.Thr550=)
c.276+16386G>A (n.276+16386G>A)
c.*220+6158C>T (n.*220+6158C>T)
c.774C>T (p.Thr258=)
c.801C>T (p.Thr267=)
c.1656C>T (p.Thr552=)
c.1470C>T (p.Thr490=)
c.1389C>T (p.Thr463=)
c.1095C>T (p.Thr365=)
c.1476C>T (p.Thr492=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688066G>CCA426124927GTF2A1L,LHCGR,STON1-GTF2A1Lc.1731C>G (p.Thr577=)
c.*43C>G (n.*43C>G)
c.3441+16386G>C (n.3441+16386G>C)
c.*475C>G (n.*475C>G)
c.1650C>G (p.Thr550=)
c.276+16386G>C (n.276+16386G>C)
c.*220+6158C>G (n.*220+6158C>G)
c.774C>G (p.Thr258=)
c.801C>G (p.Thr267=)
c.1656C>G (p.Thr552=)
c.1470C>G (p.Thr490=)
c.1389C>G (p.Thr463=)
c.1095C>G (p.Thr365=)
c.1476C>G (p.Thr492=)
2g.48688066G=CA1248600972GTF2A1L,LHCGR,STON1-GTF2A1Lc.1731C= (p.Thr577=)
c.*43C= (n.*43C=)
c.3441+16386G= (n.3441+16386G=)
c.*475C= (n.*475C=)
c.1650C= (p.Thr550=)
c.276+16386G= (n.276+16386G=)
c.*220+6158C= (n.*220+6158C=)
c.774C= (p.Thr258=)
c.801C= (p.Thr267=)
c.1656C= (p.Thr552=)
c.1470C= (p.Thr490=)
c.1389C= (p.Thr463=)
c.1095C= (p.Thr365=)
c.1476C= (p.Thr492=)
2g.48688066G>TCA426124928GTF2A1L,LHCGR,STON1-GTF2A1Lc.1731C>A (p.Thr577=)
c.*43C>A (n.*43C>A)
c.3441+16386G>T (n.3441+16386G>T)
c.*475C>A (n.*475C>A)
c.1650C>A (p.Thr550=)
c.276+16386G>T (n.276+16386G>T)
c.*220+6158C>A (n.*220+6158C>A)
c.774C>A (p.Thr258=)
c.801C>A (p.Thr267=)
c.1656C>A (p.Thr552=)
c.1470C>A (p.Thr490=)
c.1389C>A (p.Thr463=)
c.1095C>A (p.Thr365=)
c.1476C>A (p.Thr492=)
2g.48688067G>ACA123919GTF2A1L,LHCGR,STON1-GTF2A1Lc.1730C>T (p.Thr577Ile)
c.*42C>T (n.*42C>T)
c.3441+16387G>A (n.3441+16387G>A)
c.*474C>T (n.*474C>T)
c.1649C>T (p.Thr550Ile)
c.276+16387G>A (n.276+16387G>A)
c.*220+6157C>T (n.*220+6157C>T)
c.773C>T (p.Thr258Ile)
c.800C>T (p.Thr267Ile)
c.1655C>T (p.Thr552Ile)
c.1469C>T (p.Thr490Ile)
c.1388C>T (p.Thr463Ile)
c.1094C>T (p.Thr365Ile)
c.1475C>T (p.Thr492Ile)
 ClinVar dbSNP COSMIC
2g.48688067G>CCA346744921GTF2A1L,LHCGR,STON1-GTF2A1Lc.1730C>G (p.Thr577Ser)
c.*42C>G (n.*42C>G)
c.3441+16387G>C (n.3441+16387G>C)
c.*474C>G (n.*474C>G)
c.1649C>G (p.Thr550Ser)
c.276+16387G>C (n.276+16387G>C)
c.*220+6157C>G (n.*220+6157C>G)
c.773C>G (p.Thr258Ser)
c.800C>G (p.Thr267Ser)
c.1655C>G (p.Thr552Ser)
c.1469C>G (p.Thr490Ser)
c.1388C>G (p.Thr463Ser)
c.1094C>G (p.Thr365Ser)
c.1475C>G (p.Thr492Ser)
2g.48688067G=CA1248600973GTF2A1L,LHCGR,STON1-GTF2A1Lc.1730C= (p.Thr577=)
c.*42C= (n.*42C=)
c.3441+16387G= (n.3441+16387G=)
c.*474C= (n.*474C=)
c.1649C= (p.Thr550=)
c.276+16387G= (n.276+16387G=)
c.*220+6157C= (n.*220+6157C=)
c.773C= (p.Thr258=)
c.800C= (p.Thr267=)
c.1655C= (p.Thr552=)
c.1469C= (p.Thr490=)
c.1388C= (p.Thr463=)
c.1094C= (p.Thr365=)
c.1475C= (p.Thr492=)
2g.48688067G>TCA346744923GTF2A1L,LHCGR,STON1-GTF2A1Lc.1730C>A (p.Thr577Asn)
c.*42C>A (n.*42C>A)
c.3441+16387G>T (n.3441+16387G>T)
c.*474C>A (n.*474C>A)
c.1649C>A (p.Thr550Asn)
c.276+16387G>T (n.276+16387G>T)
c.*220+6157C>A (n.*220+6157C>A)
c.773C>A (p.Thr258Asn)
c.800C>A (p.Thr267Asn)
c.1655C>A (p.Thr552Asn)
c.1469C>A (p.Thr490Asn)
c.1388C>A (p.Thr463Asn)
c.1094C>A (p.Thr365Asn)
c.1475C>A (p.Thr492Asn)
2g.48688068T>ACA346744927GTF2A1L,LHCGR,STON1-GTF2A1Lc.1729A>T (p.Thr577Ser)
c.*41A>T (n.*41A>T)
c.3441+16388T>A (n.3441+16388T>A)
c.*473A>T (n.*473A>T)
c.1648A>T (p.Thr550Ser)
c.276+16388T>A (n.276+16388T>A)
c.*220+6156A>T (n.*220+6156A>T)
c.772A>T (p.Thr258Ser)
c.799A>T (p.Thr267Ser)
c.1654A>T (p.Thr552Ser)
c.1468A>T (p.Thr490Ser)
c.1387A>T (p.Thr463Ser)
c.1093A>T (p.Thr365Ser)
c.1474A>T (p.Thr492Ser)
 dbSNP
2g.48688068T>CCA346744935GTF2A1L,LHCGR,STON1-GTF2A1Lc.1729A>G (p.Thr577Ala)
c.*41A>G (n.*41A>G)
c.3441+16388T>C (n.3441+16388T>C)
c.*473A>G (n.*473A>G)
c.1648A>G (p.Thr550Ala)
c.276+16388T>C (n.276+16388T>C)
c.*220+6156A>G (n.*220+6156A>G)
c.772A>G (p.Thr258Ala)
c.799A>G (p.Thr267Ala)
c.1654A>G (p.Thr552Ala)
c.1468A>G (p.Thr490Ala)
c.1387A>G (p.Thr463Ala)
c.1093A>G (p.Thr365Ala)
c.1474A>G (p.Thr492Ala)
2g.48688068T>GCA346744939GTF2A1L,LHCGR,STON1-GTF2A1Lc.1729A>C (p.Thr577Pro)
c.*41A>C (n.*41A>C)
c.3441+16388T>G (n.3441+16388T>G)
c.*473A>C (n.*473A>C)
c.1648A>C (p.Thr550Pro)
c.276+16388T>G (n.276+16388T>G)
c.*220+6156A>C (n.*220+6156A>C)
c.772A>C (p.Thr258Pro)
c.799A>C (p.Thr267Pro)
c.1654A>C (p.Thr552Pro)
c.1468A>C (p.Thr490Pro)
c.1387A>C (p.Thr463Pro)
c.1093A>C (p.Thr365Pro)
c.1474A>C (p.Thr492Pro)
2g.48688068T=CA1248600974GTF2A1L,LHCGR,STON1-GTF2A1Lc.1729A= (p.Thr577=)
c.*41A= (n.*41A=)
c.3441+16388T= (n.3441+16388T=)
c.*473A= (n.*473A=)
c.1648A= (p.Thr550=)
c.276+16388T= (n.276+16388T=)
c.*220+6156A= (n.*220+6156A=)
c.772A= (p.Thr258=)
c.799A= (p.Thr267=)
c.1654A= (p.Thr552=)
c.1468A= (p.Thr490=)
c.1387A= (p.Thr463=)
c.1093A= (p.Thr365=)
c.1474A= (p.Thr492=)
2g.48688069G>ACA426124929GTF2A1L,LHCGR,STON1-GTF2A1Lc.1728C>T (p.Phe576=)
c.*40C>T (n.*40C>T)
c.3441+16389G>A (n.3441+16389G>A)
c.*472C>T (n.*472C>T)
c.1647C>T (p.Phe549=)
c.276+16389G>A (n.276+16389G>A)
c.*220+6155C>T (n.*220+6155C>T)
c.771C>T (p.Phe257=)
c.798C>T (p.Phe266=)
c.1653C>T (p.Phe551=)
c.1467C>T (p.Phe489=)
c.1386C>T (p.Phe462=)
c.1092C>T (p.Phe364=)
c.1473C>T (p.Phe491=)
2g.48688069G>CCA346744943GTF2A1L,LHCGR,STON1-GTF2A1Lc.1728C>G (p.Phe576Leu)
c.*40C>G (n.*40C>G)
c.3441+16389G>C (n.3441+16389G>C)
c.*472C>G (n.*472C>G)
c.1647C>G (p.Phe549Leu)
c.276+16389G>C (n.276+16389G>C)
c.*220+6155C>G (n.*220+6155C>G)
c.771C>G (p.Phe257Leu)
c.798C>G (p.Phe266Leu)
c.1653C>G (p.Phe551Leu)
c.1467C>G (p.Phe489Leu)
c.1386C>G (p.Phe462Leu)
c.1092C>G (p.Phe364Leu)
c.1473C>G (p.Phe491Leu)
2g.48688069G>TCA346744944GTF2A1L,LHCGR,STON1-GTF2A1Lc.1728C>A (p.Phe576Leu)
c.*40C>A (n.*40C>A)
c.3441+16389G>T (n.3441+16389G>T)
c.*472C>A (n.*472C>A)
c.1647C>A (p.Phe549Leu)
c.276+16389G>T (n.276+16389G>T)
c.*220+6155C>A (n.*220+6155C>A)
c.771C>A (p.Phe257Leu)
c.798C>A (p.Phe266Leu)
c.1653C>A (p.Phe551Leu)
c.1467C>A (p.Phe489Leu)
c.1386C>A (p.Phe462Leu)
c.1092C>A (p.Phe364Leu)
c.1473C>A (p.Phe491Leu)
2g.48688070A>CCA346744947GTF2A1L,LHCGR,STON1-GTF2A1Lc.1727T>G (p.Phe576Cys)
c.*39T>G (n.*39T>G)
c.3441+16390A>C (n.3441+16390A>C)
c.*471T>G (n.*471T>G)
c.1646T>G (p.Phe549Cys)
c.276+16390A>C (n.276+16390A>C)
c.*220+6154T>G (n.*220+6154T>G)
c.770T>G (p.Phe257Cys)
c.797T>G (p.Phe266Cys)
c.1652T>G (p.Phe551Cys)
c.1466T>G (p.Phe489Cys)
c.1385T>G (p.Phe462Cys)
c.1091T>G (p.Phe364Cys)
c.1472T>G (p.Phe491Cys)
2g.48688070A>GCA346744952GTF2A1L,LHCGR,STON1-GTF2A1Lc.1727T>C (p.Phe576Ser)
c.*39T>C (n.*39T>C)
c.3441+16390A>G (n.3441+16390A>G)
c.*471T>C (n.*471T>C)
c.1646T>C (p.Phe549Ser)
c.276+16390A>G (n.276+16390A>G)
c.*220+6154T>C (n.*220+6154T>C)
c.770T>C (p.Phe257Ser)
c.797T>C (p.Phe266Ser)
c.1652T>C (p.Phe551Ser)
c.1466T>C (p.Phe489Ser)
c.1385T>C (p.Phe462Ser)
c.1091T>C (p.Phe364Ser)
c.1472T>C (p.Phe491Ser)
2g.48688070A>TCA346744954GTF2A1L,LHCGR,STON1-GTF2A1Lc.1727T>A (p.Phe576Tyr)
c.*39T>A (n.*39T>A)
c.3441+16390A>T (n.3441+16390A>T)
c.*471T>A (n.*471T>A)
c.1646T>A (p.Phe549Tyr)
c.276+16390A>T (n.276+16390A>T)
c.*220+6154T>A (n.*220+6154T>A)
c.770T>A (p.Phe257Tyr)
c.797T>A (p.Phe266Tyr)
c.1652T>A (p.Phe551Tyr)
c.1466T>A (p.Phe489Tyr)
c.1385T>A (p.Phe462Tyr)
c.1091T>A (p.Phe364Tyr)
c.1472T>A (p.Phe491Tyr)
2g.48688071A>CCA346744960GTF2A1L,LHCGR,STON1-GTF2A1Lc.1726T>G (p.Phe576Val)
c.*38T>G (n.*38T>G)
c.3441+16391A>C (n.3441+16391A>C)
c.*470T>G (n.*470T>G)
c.1645T>G (p.Phe549Val)
c.276+16391A>C (n.276+16391A>C)
c.*220+6153T>G (n.*220+6153T>G)
c.769T>G (p.Phe257Val)
c.796T>G (p.Phe266Val)
c.1651T>G (p.Phe551Val)
c.1465T>G (p.Phe489Val)
c.1384T>G (p.Phe462Val)
c.1090T>G (p.Phe364Val)
c.1471T>G (p.Phe491Val)
2g.48688071A>GCA346744963GTF2A1L,LHCGR,STON1-GTF2A1Lc.1726T>C (p.Phe576Leu)
c.*38T>C (n.*38T>C)
c.3441+16391A>G (n.3441+16391A>G)
c.*470T>C (n.*470T>C)
c.1645T>C (p.Phe549Leu)
c.276+16391A>G (n.276+16391A>G)
c.*220+6153T>C (n.*220+6153T>C)
c.769T>C (p.Phe257Leu)
c.796T>C (p.Phe266Leu)
c.1651T>C (p.Phe551Leu)
c.1465T>C (p.Phe489Leu)
c.1384T>C (p.Phe462Leu)
c.1090T>C (p.Phe364Leu)
c.1471T>C (p.Phe491Leu)
2g.48688071A>TCA346744957GTF2A1L,LHCGR,STON1-GTF2A1Lc.1726T>A (p.Phe576Ile)
c.*38T>A (n.*38T>A)
c.3441+16391A>T (n.3441+16391A>T)
c.*470T>A (n.*470T>A)
c.1645T>A (p.Phe549Ile)
c.276+16391A>T (n.276+16391A>T)
c.*220+6153T>A (n.*220+6153T>A)
c.769T>A (p.Phe257Ile)
c.796T>A (p.Phe266Ile)
c.1651T>A (p.Phe551Ile)
c.1465T>A (p.Phe489Ile)
c.1384T>A (p.Phe462Ile)
c.1090T>A (p.Phe364Ile)
c.1471T>A (p.Phe491Ile)
2g.48688072G>ACA426124930GTF2A1L,LHCGR,STON1-GTF2A1Lc.1725C>T (p.Ile575=)
c.*37C>T (n.*37C>T)
c.3441+16392G>A (n.3441+16392G>A)
c.*469C>T (n.*469C>T)
c.1644C>T (p.Ile548=)
c.276+16392G>A (n.276+16392G>A)
c.*220+6152C>T (n.*220+6152C>T)
c.768C>T (p.Ile256=)
c.795C>T (p.Ile265=)
c.1650C>T (p.Ile550=)
c.1464C>T (p.Ile488=)
c.1383C>T (p.Ile461=)
c.1089C>T (p.Ile363=)
c.1470C>T (p.Ile490=)
 dbSNP gnomAD v4
2g.48688072G>CCA346744966GTF2A1L,LHCGR,STON1-GTF2A1Lc.1725C>G (p.Ile575Met)
c.*37C>G (n.*37C>G)
c.3441+16392G>C (n.3441+16392G>C)
c.*469C>G (n.*469C>G)
c.1644C>G (p.Ile548Met)
c.276+16392G>C (n.276+16392G>C)
c.*220+6152C>G (n.*220+6152C>G)
c.768C>G (p.Ile256Met)
c.795C>G (p.Ile265Met)
c.1650C>G (p.Ile550Met)
c.1464C>G (p.Ile488Met)
c.1383C>G (p.Ile461Met)
c.1089C>G (p.Ile363Met)
c.1470C>G (p.Ile490Met)
 gnomAD v4
2g.48688072G=CA1248600975GTF2A1L,LHCGR,STON1-GTF2A1Lc.1725C= (p.Ile575=)
c.*37C= (n.*37C=)
c.3441+16392G= (n.3441+16392G=)
c.*469C= (n.*469C=)
c.1644C= (p.Ile548=)
c.276+16392G= (n.276+16392G=)
c.*220+6152C= (n.*220+6152C=)
c.768C= (p.Ile256=)
c.795C= (p.Ile265=)
c.1650C= (p.Ile550=)
c.1464C= (p.Ile488=)
c.1383C= (p.Ile461=)
c.1089C= (p.Ile363=)
c.1470C= (p.Ile490=)
2g.48688072G>TCA426124931GTF2A1L,LHCGR,STON1-GTF2A1Lc.1725C>A (p.Ile575=)
c.*37C>A (n.*37C>A)
c.3441+16392G>T (n.3441+16392G>T)
c.*469C>A (n.*469C>A)
c.1644C>A (p.Ile548=)
c.276+16392G>T (n.276+16392G>T)
c.*220+6152C>A (n.*220+6152C>A)
c.768C>A (p.Ile256=)
c.795C>A (p.Ile265=)
c.1650C>A (p.Ile550=)
c.1464C>A (p.Ile488=)
c.1383C>A (p.Ile461=)
c.1089C>A (p.Ile363=)
c.1470C>A (p.Ile490=)
 COSMIC
2g.48688073A=CA1248600976GTF2A1L,LHCGR,STON1-GTF2A1Lc.1724T= (p.Ile575=)
c.*36T= (n.*36T=)
c.3441+16393A= (n.3441+16393A=)
c.*468T= (n.*468T=)
c.1643T= (p.Ile548=)
c.276+16393A= (n.276+16393A=)
c.*220+6151T= (n.*220+6151T=)
c.767T= (p.Ile256=)
c.794T= (p.Ile265=)
c.1649T= (p.Ile550=)
c.1463T= (p.Ile488=)
c.1382T= (p.Ile461=)
c.1088T= (p.Ile363=)
c.1469T= (p.Ile490=)
2g.48688073A>CCA346744967GTF2A1L,LHCGR,STON1-GTF2A1Lc.1724T>G (p.Ile575Ser)
c.*36T>G (n.*36T>G)
c.3441+16393A>C (n.3441+16393A>C)
c.*468T>G (n.*468T>G)
c.1643T>G (p.Ile548Ser)
c.276+16393A>C (n.276+16393A>C)
c.*220+6151T>G (n.*220+6151T>G)
c.767T>G (p.Ile256Ser)
c.794T>G (p.Ile265Ser)
c.1649T>G (p.Ile550Ser)
c.1463T>G (p.Ile488Ser)
c.1382T>G (p.Ile461Ser)
c.1088T>G (p.Ile363Ser)
c.1469T>G (p.Ile490Ser)
2g.48688073A>GCA1652999GTF2A1L,LHCGR,STON1-GTF2A1Lc.1724T>C (p.Ile575Thr)
c.*36T>C (n.*36T>C)
c.3441+16393A>G (n.3441+16393A>G)
c.*468T>C (n.*468T>C)
c.1643T>C (p.Ile548Thr)
c.276+16393A>G (n.276+16393A>G)
c.*220+6151T>C (n.*220+6151T>C)
c.767T>C (p.Ile256Thr)
c.794T>C (p.Ile265Thr)
c.1649T>C (p.Ile550Thr)
c.1463T>C (p.Ile488Thr)
c.1382T>C (p.Ile461Thr)
c.1088T>C (p.Ile363Thr)
c.1469T>C (p.Ile490Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688073A>TCA346744968GTF2A1L,LHCGR,STON1-GTF2A1Lc.1724T>A (p.Ile575Asn)
c.*36T>A (n.*36T>A)
c.3441+16393A>T (n.3441+16393A>T)
c.*468T>A (n.*468T>A)
c.1643T>A (p.Ile548Asn)
c.276+16393A>T (n.276+16393A>T)
c.*220+6151T>A (n.*220+6151T>A)
c.767T>A (p.Ile256Asn)
c.794T>A (p.Ile265Asn)
c.1649T>A (p.Ile550Asn)
c.1463T>A (p.Ile488Asn)
c.1382T>A (p.Ile461Asn)
c.1088T>A (p.Ile363Asn)
c.1469T>A (p.Ile490Asn)
2g.48688074T>ACA346744975GTF2A1L,LHCGR,STON1-GTF2A1Lc.1723A>T (p.Ile575Phe)
c.*35A>T (n.*35A>T)
c.3441+16394T>A (n.3441+16394T>A)
c.*467A>T (n.*467A>T)
c.1642A>T (p.Ile548Phe)
c.276+16394T>A (n.276+16394T>A)
c.*220+6150A>T (n.*220+6150A>T)
c.766A>T (p.Ile256Phe)
c.793A>T (p.Ile265Phe)
c.1648A>T (p.Ile550Phe)
c.1462A>T (p.Ile488Phe)
c.1381A>T (p.Ile461Phe)
c.1087A>T (p.Ile363Phe)
c.1468A>T (p.Ile490Phe)
2g.48688074T>CCA1653000GTF2A1L,LHCGR,STON1-GTF2A1Lc.1723A>G (p.Ile575Val)
c.*35A>G (n.*35A>G)
c.3441+16394T>C (n.3441+16394T>C)
c.*467A>G (n.*467A>G)
c.1642A>G (p.Ile548Val)
c.276+16394T>C (n.276+16394T>C)
c.*220+6150A>G (n.*220+6150A>G)
c.766A>G (p.Ile256Val)
c.793A>G (p.Ile265Val)
c.1648A>G (p.Ile550Val)
c.1462A>G (p.Ile488Val)
c.1381A>G (p.Ile461Val)
c.1087A>G (p.Ile363Val)
c.1468A>G (p.Ile490Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688074T>GCA346744972GTF2A1L,LHCGR,STON1-GTF2A1Lc.1723A>C (p.Ile575Leu)
c.*35A>C (n.*35A>C)
c.3441+16394T>G (n.3441+16394T>G)
c.*467A>C (n.*467A>C)
c.1642A>C (p.Ile548Leu)
c.276+16394T>G (n.276+16394T>G)
c.*220+6150A>C (n.*220+6150A>C)
c.766A>C (p.Ile256Leu)
c.793A>C (p.Ile265Leu)
c.1648A>C (p.Ile550Leu)
c.1462A>C (p.Ile488Leu)
c.1381A>C (p.Ile461Leu)
c.1087A>C (p.Ile363Leu)
c.1468A>C (p.Ile490Leu)
 ClinVar dbSNP
2g.48688074T=CA1248600977GTF2A1L,LHCGR,STON1-GTF2A1Lc.1723A= (p.Ile575=)
c.*35A= (n.*35A=)
c.3441+16394T= (n.3441+16394T=)
c.*467A= (n.*467A=)
c.1642A= (p.Ile548=)
c.276+16394T= (n.276+16394T=)
c.*220+6150A= (n.*220+6150A=)
c.766A= (p.Ile256=)
c.793A= (p.Ile265=)
c.1648A= (p.Ile550=)
c.1462A= (p.Ile488=)
c.1381A= (p.Ile461=)
c.1087A= (p.Ile363=)
c.1468A= (p.Ile490=)
2g.48688075G>ACA426124936GTF2A1L,LHCGR,STON1-GTF2A1Lc.1722C>T (p.Leu574=)
c.*34C>T (n.*34C>T)
c.3441+16395G>A (n.3441+16395G>A)
c.*466C>T (n.*466C>T)
c.1641C>T (p.Leu547=)
c.276+16395G>A (n.276+16395G>A)
c.*220+6149C>T (n.*220+6149C>T)
c.765C>T (p.Leu255=)
c.792C>T (p.Leu264=)
c.1647C>T (p.Leu549=)
c.1461C>T (p.Leu487=)
c.1380C>T (p.Leu460=)
c.1086C>T (p.Leu362=)
c.1467C>T (p.Leu489=)
2g.48688075G>CCA426124937GTF2A1L,LHCGR,STON1-GTF2A1Lc.1722C>G (p.Leu574=)
c.*34C>G (n.*34C>G)
c.3441+16395G>C (n.3441+16395G>C)
c.*466C>G (n.*466C>G)
c.1641C>G (p.Leu547=)
c.276+16395G>C (n.276+16395G>C)
c.*220+6149C>G (n.*220+6149C>G)
c.765C>G (p.Leu255=)
c.792C>G (p.Leu264=)
c.1647C>G (p.Leu549=)
c.1461C>G (p.Leu487=)
c.1380C>G (p.Leu460=)
c.1086C>G (p.Leu362=)
c.1467C>G (p.Leu489=)
2g.48688075G>TCA426124938GTF2A1L,LHCGR,STON1-GTF2A1Lc.1722C>A (p.Leu574=)
c.*34C>A (n.*34C>A)
c.3441+16395G>T (n.3441+16395G>T)
c.*466C>A (n.*466C>A)
c.1641C>A (p.Leu547=)
c.276+16395G>T (n.276+16395G>T)
c.*220+6149C>A (n.*220+6149C>A)
c.765C>A (p.Leu255=)
c.792C>A (p.Leu264=)
c.1647C>A (p.Leu549=)
c.1461C>A (p.Leu487=)
c.1380C>A (p.Leu460=)
c.1086C>A (p.Leu362=)
c.1467C>A (p.Leu489=)
2g.48688076A>CCA346744979GTF2A1L,LHCGR,STON1-GTF2A1Lc.1721T>G (p.Leu574Arg)
c.*33T>G (n.*33T>G)
c.3441+16396A>C (n.3441+16396A>C)
c.*465T>G (n.*465T>G)
c.1640T>G (p.Leu547Arg)
c.276+16396A>C (n.276+16396A>C)
c.*220+6148T>G (n.*220+6148T>G)
c.764T>G (p.Leu255Arg)
c.791T>G (p.Leu264Arg)
c.1646T>G (p.Leu549Arg)
c.1460T>G (p.Leu487Arg)
c.1379T>G (p.Leu460Arg)
c.1085T>G (p.Leu362Arg)
c.1466T>G (p.Leu489Arg)
2g.48688076A>GCA346744982GTF2A1L,LHCGR,STON1-GTF2A1Lc.1721T>C (p.Leu574Pro)
c.*33T>C (n.*33T>C)
c.3441+16396A>G (n.3441+16396A>G)
c.*465T>C (n.*465T>C)
c.1640T>C (p.Leu547Pro)
c.276+16396A>G (n.276+16396A>G)
c.*220+6148T>C (n.*220+6148T>C)
c.764T>C (p.Leu255Pro)
c.791T>C (p.Leu264Pro)
c.1646T>C (p.Leu549Pro)
c.1460T>C (p.Leu487Pro)
c.1379T>C (p.Leu460Pro)
c.1085T>C (p.Leu362Pro)
c.1466T>C (p.Leu489Pro)
2g.48688076A>TCA346744996GTF2A1L,LHCGR,STON1-GTF2A1Lc.1721T>A (p.Leu574His)
c.*33T>A (n.*33T>A)
c.3441+16396A>T (n.3441+16396A>T)
c.*465T>A (n.*465T>A)
c.1640T>A (p.Leu547His)
c.276+16396A>T (n.276+16396A>T)
c.*220+6148T>A (n.*220+6148T>A)
c.764T>A (p.Leu255His)
c.791T>A (p.Leu264His)
c.1646T>A (p.Leu549His)
c.1460T>A (p.Leu487His)
c.1379T>A (p.Leu460His)
c.1085T>A (p.Leu362His)
c.1466T>A (p.Leu489His)
2g.48688077G>ACA346744998GTF2A1L,LHCGR,STON1-GTF2A1Lc.1720C>T (p.Leu574Phe)
c.*32C>T (n.*32C>T)
c.3441+16397G>A (n.3441+16397G>A)
c.*464C>T (n.*464C>T)
c.1639C>T (p.Leu547Phe)
c.276+16397G>A (n.276+16397G>A)
c.*220+6147C>T (n.*220+6147C>T)
c.763C>T (p.Leu255Phe)
c.790C>T (p.Leu264Phe)
c.1645C>T (p.Leu549Phe)
c.1459C>T (p.Leu487Phe)
c.1378C>T (p.Leu460Phe)
c.1084C>T (p.Leu362Phe)
c.1465C>T (p.Leu489Phe)
 COSMIC
2g.48688077G>CCA346744999GTF2A1L,LHCGR,STON1-GTF2A1Lc.1720C>G (p.Leu574Val)
c.*32C>G (n.*32C>G)
c.3441+16397G>C (n.3441+16397G>C)
c.*464C>G (n.*464C>G)
c.1639C>G (p.Leu547Val)
c.276+16397G>C (n.276+16397G>C)
c.*220+6147C>G (n.*220+6147C>G)
c.763C>G (p.Leu255Val)
c.790C>G (p.Leu264Val)
c.1645C>G (p.Leu549Val)
c.1459C>G (p.Leu487Val)
c.1378C>G (p.Leu460Val)
c.1084C>G (p.Leu362Val)
c.1465C>G (p.Leu489Val)
 dbSNP gnomAD v2 gnomAD v4
2g.48688077G=CA1248600978GTF2A1L,LHCGR,STON1-GTF2A1Lc.1720C= (p.Leu574=)
c.*32C= (n.*32C=)
c.3441+16397G= (n.3441+16397G=)
c.*464C= (n.*464C=)
c.1639C= (p.Leu547=)
c.276+16397G= (n.276+16397G=)
c.*220+6147C= (n.*220+6147C=)
c.763C= (p.Leu255=)
c.790C= (p.Leu264=)
c.1645C= (p.Leu549=)
c.1459C= (p.Leu487=)
c.1378C= (p.Leu460=)
c.1084C= (p.Leu362=)
c.1465C= (p.Leu489=)
2g.48688077G>TCA346745000GTF2A1L,LHCGR,STON1-GTF2A1Lc.1720C>A (p.Leu574Ile)
c.*32C>A (n.*32C>A)
c.3441+16397G>T (n.3441+16397G>T)
c.*464C>A (n.*464C>A)
c.1639C>A (p.Leu547Ile)
c.276+16397G>T (n.276+16397G>T)
c.*220+6147C>A (n.*220+6147C>A)
c.763C>A (p.Leu255Ile)
c.790C>A (p.Leu264Ile)
c.1645C>A (p.Leu549Ile)
c.1459C>A (p.Leu487Ile)
c.1378C>A (p.Leu460Ile)
c.1084C>A (p.Leu362Ile)
c.1465C>A (p.Leu489Ile)
2g.48688078G>ACA426124941GTF2A1L,LHCGR,STON1-GTF2A1Lc.1719C>T (p.Ile573=)
c.*31C>T (n.*31C>T)
c.3441+16398G>A (n.3441+16398G>A)
c.*463C>T (n.*463C>T)
c.1638C>T (p.Ile546=)
c.276+16398G>A (n.276+16398G>A)
c.*220+6146C>T (n.*220+6146C>T)
c.762C>T (p.Ile254=)
c.789C>T (p.Ile263=)
c.1644C>T (p.Ile548=)
c.1458C>T (p.Ile486=)
c.1377C>T (p.Ile459=)
c.1083C>T (p.Ile361=)
c.1464C>T (p.Ile488=)
2g.48688078G>CCA346745002GTF2A1L,LHCGR,STON1-GTF2A1Lc.1719C>G (p.Ile573Met)
c.*31C>G (n.*31C>G)
c.3441+16398G>C (n.3441+16398G>C)
c.*463C>G (n.*463C>G)
c.1638C>G (p.Ile546Met)
c.276+16398G>C (n.276+16398G>C)
c.*220+6146C>G (n.*220+6146C>G)
c.762C>G (p.Ile254Met)
c.789C>G (p.Ile263Met)
c.1644C>G (p.Ile548Met)
c.1458C>G (p.Ile486Met)
c.1377C>G (p.Ile459Met)
c.1083C>G (p.Ile361Met)
c.1464C>G (p.Ile488Met)
2g.48688078G>TCA426124943GTF2A1L,LHCGR,STON1-GTF2A1Lc.1719C>A (p.Ile573=)
c.*31C>A (n.*31C>A)
c.3441+16398G>T (n.3441+16398G>T)
c.*463C>A (n.*463C>A)
c.1638C>A (p.Ile546=)
c.276+16398G>T (n.276+16398G>T)
c.*220+6146C>A (n.*220+6146C>A)
c.762C>A (p.Ile254=)
c.789C>A (p.Ile263=)
c.1644C>A (p.Ile548=)
c.1458C>A (p.Ile486=)
c.1377C>A (p.Ile459=)
c.1083C>A (p.Ile361=)
c.1464C>A (p.Ile488=)
2g.48688079A=CA1248600979GTF2A1L,LHCGR,STON1-GTF2A1Lc.1718T= (p.Ile573=)
c.*30T= (n.*30T=)
c.3441+16399A= (n.3441+16399A=)
c.*462T= (n.*462T=)
c.1637T= (p.Ile546=)
c.276+16399A= (n.276+16399A=)
c.*220+6145T= (n.*220+6145T=)
c.761T= (p.Ile254=)
c.788T= (p.Ile263=)
c.1643T= (p.Ile548=)
c.1457T= (p.Ile486=)
c.1376T= (p.Ile459=)
c.1082T= (p.Ile361=)
c.1463T= (p.Ile488=)
2g.48688079A>CCA346745008GTF2A1L,LHCGR,STON1-GTF2A1Lc.1718T>G (p.Ile573Ser)
c.*30T>G (n.*30T>G)
c.3441+16399A>C (n.3441+16399A>C)
c.*462T>G (n.*462T>G)
c.1637T>G (p.Ile546Ser)
c.276+16399A>C (n.276+16399A>C)
c.*220+6145T>G (n.*220+6145T>G)
c.761T>G (p.Ile254Ser)
c.788T>G (p.Ile263Ser)
c.1643T>G (p.Ile548Ser)
c.1457T>G (p.Ile486Ser)
c.1376T>G (p.Ile459Ser)
c.1082T>G (p.Ile361Ser)
c.1463T>G (p.Ile488Ser)
2g.48688079A>GCA346745011GTF2A1L,LHCGR,STON1-GTF2A1Lc.1718T>C (p.Ile573Thr)
c.*30T>C (n.*30T>C)
c.3441+16399A>G (n.3441+16399A>G)
c.*462T>C (n.*462T>C)
c.1637T>C (p.Ile546Thr)
c.276+16399A>G (n.276+16399A>G)
c.*220+6145T>C (n.*220+6145T>C)
c.761T>C (p.Ile254Thr)
c.788T>C (p.Ile263Thr)
c.1643T>C (p.Ile548Thr)
c.1457T>C (p.Ile486Thr)
c.1376T>C (p.Ile459Thr)
c.1082T>C (p.Ile361Thr)
c.1463T>C (p.Ile488Thr)
2g.48688079A>TCA346745006GTF2A1L,LHCGR,STON1-GTF2A1Lc.1718T>A (p.Ile573Asn)
c.*30T>A (n.*30T>A)
c.3441+16399A>T (n.3441+16399A>T)
c.*462T>A (n.*462T>A)
c.1637T>A (p.Ile546Asn)
c.276+16399A>T (n.276+16399A>T)
c.*220+6145T>A (n.*220+6145T>A)
c.761T>A (p.Ile254Asn)
c.788T>A (p.Ile263Asn)
c.1643T>A (p.Ile548Asn)
c.1457T>A (p.Ile486Asn)
c.1376T>A (p.Ile459Asn)
c.1082T>A (p.Ile361Asn)
c.1463T>A (p.Ile488Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.48688082_48688087delCA2658992080GTF2A1L,LHCGR,STON1-GTF2A1Lc.1713_1718del (p.Met571_Ala572del)
c.*25_*30del (n.*25_*30del)
c.3441+16402_3441+16407del (n.3441+16402_3441+16407del)
c.*457_*462del (n.*457_*462del)
c.1632_1637del (p.Met544_Ala545del)
c.276+16402_276+16407del (n.276+16402_276+16407del)
c.*220+6140_*220+6145del (n.*220+6140_*220+6145del)
c.756_761del (p.Met252_Ala253del)
c.783_788del (p.Met261_Ala262del)
c.1638_1643del (p.Met546_Ala547del)
c.1452_1457del (p.Met484_Ala485del)
c.1371_1376del (p.Met457_Ala458del)
c.1077_1082del (p.Met359_Ala360del)
c.1458_1463del (p.Met486_Ala487del)
 gnomAD v4
2g.48688080T>ACA346745017GTF2A1L,LHCGR,STON1-GTF2A1Lc.1717A>T (p.Ile573Phe)
c.*29A>T (n.*29A>T)
c.3441+16400T>A (n.3441+16400T>A)
c.*461A>T (n.*461A>T)
c.1636A>T (p.Ile546Phe)
c.276+16400T>A (n.276+16400T>A)
c.*220+6144A>T (n.*220+6144A>T)
c.760A>T (p.Ile254Phe)
c.787A>T (p.Ile263Phe)
c.1642A>T (p.Ile548Phe)
c.1456A>T (p.Ile486Phe)
c.1375A>T (p.Ile459Phe)
c.1081A>T (p.Ile361Phe)
c.1462A>T (p.Ile488Phe)
2g.48688080T>CCA346745015GTF2A1L,LHCGR,STON1-GTF2A1Lc.1717A>G (p.Ile573Val)
c.*29A>G (n.*29A>G)
c.3441+16400T>C (n.3441+16400T>C)
c.*461A>G (n.*461A>G)
c.1636A>G (p.Ile546Val)
c.276+16400T>C (n.276+16400T>C)
c.*220+6144A>G (n.*220+6144A>G)
c.760A>G (p.Ile254Val)
c.787A>G (p.Ile263Val)
c.1642A>G (p.Ile548Val)
c.1456A>G (p.Ile486Val)
c.1375A>G (p.Ile459Val)
c.1081A>G (p.Ile361Val)
c.1462A>G (p.Ile488Val)
 dbSNP gnomAD v4
2g.48688080T>GCA346745019GTF2A1L,LHCGR,STON1-GTF2A1Lc.1717A>C (p.Ile573Leu)
c.*29A>C (n.*29A>C)
c.3441+16400T>G (n.3441+16400T>G)
c.*461A>C (n.*461A>C)
c.1636A>C (p.Ile546Leu)
c.276+16400T>G (n.276+16400T>G)
c.*220+6144A>C (n.*220+6144A>C)
c.760A>C (p.Ile254Leu)
c.787A>C (p.Ile263Leu)
c.1642A>C (p.Ile548Leu)
c.1456A>C (p.Ile486Leu)
c.1375A>C (p.Ile459Leu)
c.1081A>C (p.Ile361Leu)
c.1462A>C (p.Ile488Leu)
2g.48688080T=CA1248600980GTF2A1L,LHCGR,STON1-GTF2A1Lc.1717A= (p.Ile573=)
c.*29A= (n.*29A=)
c.3441+16400T= (n.3441+16400T=)
c.*461A= (n.*461A=)
c.1636A= (p.Ile546=)
c.276+16400T= (n.276+16400T=)
c.*220+6144A= (n.*220+6144A=)
c.760A= (p.Ile254=)
c.787A= (p.Ile263=)
c.1642A= (p.Ile548=)
c.1456A= (p.Ile486=)
c.1375A= (p.Ile459=)
c.1081A= (p.Ile361=)
c.1462A= (p.Ile488=)
2g.48688081T>ACA426124945GTF2A1L,LHCGR,STON1-GTF2A1Lc.1716A>T (p.Ala572=)
c.*28A>T (n.*28A>T)
c.3441+16401T>A (n.3441+16401T>A)
c.*460A>T (n.*460A>T)
c.1635A>T (p.Ala545=)
c.276+16401T>A (n.276+16401T>A)
c.*220+6143A>T (n.*220+6143A>T)
c.759A>T (p.Ala253=)
c.786A>T (p.Ala262=)
c.1641A>T (p.Ala547=)
c.1455A>T (p.Ala485=)
c.1374A>T (p.Ala458=)
c.1080A>T (p.Ala360=)
c.1461A>T (p.Ala487=)
2g.48688081T>CCA426124946GTF2A1L,LHCGR,STON1-GTF2A1Lc.1716A>G (p.Ala572=)
c.*28A>G (n.*28A>G)
c.3441+16401T>C (n.3441+16401T>C)
c.*460A>G (n.*460A>G)
c.1635A>G (p.Ala545=)
c.276+16401T>C (n.276+16401T>C)
c.*220+6143A>G (n.*220+6143A>G)
c.759A>G (p.Ala253=)
c.786A>G (p.Ala262=)
c.1641A>G (p.Ala547=)
c.1455A>G (p.Ala485=)
c.1374A>G (p.Ala458=)
c.1080A>G (p.Ala360=)
c.1461A>G (p.Ala487=)
2g.48688081T>GCA426124947GTF2A1L,LHCGR,STON1-GTF2A1Lc.1716A>C (p.Ala572=)
c.*28A>C (n.*28A>C)
c.3441+16401T>G (n.3441+16401T>G)
c.*460A>C (n.*460A>C)
c.1635A>C (p.Ala545=)
c.276+16401T>G (n.276+16401T>G)
c.*220+6143A>C (n.*220+6143A>C)
c.759A>C (p.Ala253=)
c.786A>C (p.Ala262=)
c.1641A>C (p.Ala547=)
c.1455A>C (p.Ala485=)
c.1374A>C (p.Ala458=)
c.1080A>C (p.Ala360=)
c.1461A>C (p.Ala487=)
2g.48688082G>ACA123920GTF2A1L,LHCGR,STON1-GTF2A1Lc.1715C>T (p.Ala572Val)
c.*27C>T (n.*27C>T)
c.3441+16402G>A (n.3441+16402G>A)
c.*459C>T (n.*459C>T)
c.1634C>T (p.Ala545Val)
c.276+16402G>A (n.276+16402G>A)
c.*220+6142C>T (n.*220+6142C>T)
c.758C>T (p.Ala253Val)
c.785C>T (p.Ala262Val)
c.1640C>T (p.Ala547Val)
c.1454C>T (p.Ala485Val)
c.1373C>T (p.Ala458Val)
c.1079C>T (p.Ala360Val)
c.1460C>T (p.Ala487Val)
 ClinVar dbSNP gnomAD v4
2g.48688082G>CCA346745025GTF2A1L,LHCGR,STON1-GTF2A1Lc.1715C>G (p.Ala572Gly)
c.*27C>G (n.*27C>G)
c.3441+16402G>C (n.3441+16402G>C)
c.*459C>G (n.*459C>G)
c.1634C>G (p.Ala545Gly)
c.276+16402G>C (n.276+16402G>C)
c.*220+6142C>G (n.*220+6142C>G)
c.758C>G (p.Ala253Gly)
c.785C>G (p.Ala262Gly)
c.1640C>G (p.Ala547Gly)
c.1454C>G (p.Ala485Gly)
c.1373C>G (p.Ala458Gly)
c.1079C>G (p.Ala360Gly)
c.1460C>G (p.Ala487Gly)
 dbSNP
2g.48688082G=CA1248600981GTF2A1L,LHCGR,STON1-GTF2A1Lc.1715C= (p.Ala572=)
c.*27C= (n.*27C=)
c.3441+16402G= (n.3441+16402G=)
c.*459C= (n.*459C=)
c.1634C= (p.Ala545=)
c.276+16402G= (n.276+16402G=)
c.*220+6142C= (n.*220+6142C=)
c.758C= (p.Ala253=)
c.785C= (p.Ala262=)
c.1640C= (p.Ala547=)
c.1454C= (p.Ala485=)
c.1373C= (p.Ala458=)
c.1079C= (p.Ala360=)
c.1460C= (p.Ala487=)
2g.48688082G>TCA346745023GTF2A1L,LHCGR,STON1-GTF2A1Lc.1715C>A (p.Ala572Glu)
c.*27C>A (n.*27C>A)
c.3441+16402G>T (n.3441+16402G>T)
c.*459C>A (n.*459C>A)
c.1634C>A (p.Ala545Glu)
c.276+16402G>T (n.276+16402G>T)
c.*220+6142C>A (n.*220+6142C>A)
c.758C>A (p.Ala253Glu)
c.785C>A (p.Ala262Glu)
c.1640C>A (p.Ala547Glu)
c.1454C>A (p.Ala485Glu)
c.1373C>A (p.Ala458Glu)
c.1079C>A (p.Ala360Glu)
c.1460C>A (p.Ala487Glu)
2g.48688083C>ACA346745026GTF2A1L,LHCGR,STON1-GTF2A1Lc.1714G>T (p.Ala572Ser)
c.*26G>T (n.*26G>T)
c.3441+16403C>A (n.3441+16403C>A)
c.*458G>T (n.*458G>T)
c.1633G>T (p.Ala545Ser)
c.276+16403C>A (n.276+16403C>A)
c.*220+6141G>T (n.*220+6141G>T)
c.757G>T (p.Ala253Ser)
c.784G>T (p.Ala262Ser)
c.1639G>T (p.Ala547Ser)
c.1453G>T (p.Ala485Ser)
c.1372G>T (p.Ala458Ser)
c.1078G>T (p.Ala360Ser)
c.1459G>T (p.Ala487Ser)
2g.48688083C>GCA346745027GTF2A1L,LHCGR,STON1-GTF2A1Lc.1714G>C (p.Ala572Pro)
c.*26G>C (n.*26G>C)
c.3441+16403C>G (n.3441+16403C>G)
c.*458G>C (n.*458G>C)
c.1633G>C (p.Ala545Pro)
c.276+16403C>G (n.276+16403C>G)
c.*220+6141G>C (n.*220+6141G>C)
c.757G>C (p.Ala253Pro)
c.784G>C (p.Ala262Pro)
c.1639G>C (p.Ala547Pro)
c.1453G>C (p.Ala485Pro)
c.1372G>C (p.Ala458Pro)
c.1078G>C (p.Ala360Pro)
c.1459G>C (p.Ala487Pro)
2g.48688083C>TCA346745028GTF2A1L,LHCGR,STON1-GTF2A1Lc.1714G>A (p.Ala572Thr)
c.*26G>A (n.*26G>A)
c.3441+16403C>T (n.3441+16403C>T)
c.*458G>A (n.*458G>A)
c.1633G>A (p.Ala545Thr)
c.276+16403C>T (n.276+16403C>T)
c.*220+6141G>A (n.*220+6141G>A)
c.757G>A (p.Ala253Thr)
c.784G>A (p.Ala262Thr)
c.1639G>A (p.Ala547Thr)
c.1453G>A (p.Ala485Thr)
c.1372G>A (p.Ala458Thr)
c.1078G>A (p.Ala360Thr)
c.1459G>A (p.Ala487Thr)
2g.48688084C>ACA346745029GTF2A1L,LHCGR,STON1-GTF2A1Lc.1713G>T (p.Met571Ile)
c.*25G>T (n.*25G>T)
c.3441+16404C>A (n.3441+16404C>A)
c.*457G>T (n.*457G>T)
c.1632G>T (p.Met544Ile)
c.276+16404C>A (n.276+16404C>A)
c.*220+6140G>T (n.*220+6140G>T)
c.756G>T (p.Met252Ile)
c.783G>T (p.Met261Ile)
c.1638G>T (p.Met546Ile)
c.1452G>T (p.Met484Ile)
c.1371G>T (p.Met457Ile)
c.1077G>T (p.Met359Ile)
c.1458G>T (p.Met486Ile)
 ClinVar dbSNP
2g.48688084C=CA1248600982GTF2A1L,LHCGR,STON1-GTF2A1Lc.1713G= (p.Met571=)
c.*25G= (n.*25G=)
c.3441+16404C= (n.3441+16404C=)
c.*457G= (n.*457G=)
c.1632G= (p.Met544=)
c.276+16404C= (n.276+16404C=)
c.*220+6140G= (n.*220+6140G=)
c.756G= (p.Met252=)
c.783G= (p.Met261=)
c.1638G= (p.Met546=)
c.1452G= (p.Met484=)
c.1371G= (p.Met457=)
c.1077G= (p.Met359=)
c.1458G= (p.Met486=)
2g.48688084C>GCA346745030GTF2A1L,LHCGR,STON1-GTF2A1Lc.1713G>C (p.Met571Ile)
c.*25G>C (n.*25G>C)
c.3441+16404C>G (n.3441+16404C>G)
c.*457G>C (n.*457G>C)
c.1632G>C (p.Met544Ile)
c.276+16404C>G (n.276+16404C>G)
c.*220+6140G>C (n.*220+6140G>C)
c.756G>C (p.Met252Ile)
c.783G>C (p.Met261Ile)
c.1638G>C (p.Met546Ile)
c.1452G>C (p.Met484Ile)
c.1371G>C (p.Met457Ile)
c.1077G>C (p.Met359Ile)
c.1458G>C (p.Met486Ile)
2g.48688084C>TCA123917GTF2A1L,LHCGR,STON1-GTF2A1Lc.1713G>A (p.Met571Ile)
c.*25G>A (n.*25G>A)
c.3441+16404C>T (n.3441+16404C>T)
c.*457G>A (n.*457G>A)
c.1632G>A (p.Met544Ile)
c.276+16404C>T (n.276+16404C>T)
c.*220+6140G>A (n.*220+6140G>A)
c.756G>A (p.Met252Ile)
c.783G>A (p.Met261Ile)
c.1638G>A (p.Met546Ile)
c.1452G>A (p.Met484Ile)
c.1371G>A (p.Met457Ile)
c.1077G>A (p.Met359Ile)
c.1458G>A (p.Met486Ile)
 ClinVar dbSNP
2g.48688085A=CA1248600983GTF2A1L,LHCGR,STON1-GTF2A1Lc.1712T= (p.Met571=)
c.*24T= (n.*24T=)
c.3441+16405A= (n.3441+16405A=)
c.*456T= (n.*456T=)
c.1631T= (p.Met544=)
c.276+16405A= (n.276+16405A=)
c.*220+6139T= (n.*220+6139T=)
c.755T= (p.Met252=)
c.782T= (p.Met261=)
c.1637T= (p.Met546=)
c.1451T= (p.Met484=)
c.1370T= (p.Met457=)
c.1076T= (p.Met359=)
c.1457T= (p.Met486=)
2g.48688085A>CCA346745037GTF2A1L,LHCGR,STON1-GTF2A1Lc.1712T>G (p.Met571Arg)
c.*24T>G (n.*24T>G)
c.3441+16405A>C (n.3441+16405A>C)
c.*456T>G (n.*456T>G)
c.1631T>G (p.Met544Arg)
c.276+16405A>C (n.276+16405A>C)
c.*220+6139T>G (n.*220+6139T>G)
c.755T>G (p.Met252Arg)
c.782T>G (p.Met261Arg)
c.1637T>G (p.Met546Arg)
c.1451T>G (p.Met484Arg)
c.1370T>G (p.Met457Arg)
c.1076T>G (p.Met359Arg)
c.1457T>G (p.Met486Arg)
2g.48688085A>GCA346745032GTF2A1L,LHCGR,STON1-GTF2A1Lc.1712T>C (p.Met571Thr)
c.*24T>C (n.*24T>C)
c.3441+16405A>G (n.3441+16405A>G)
c.*456T>C (n.*456T>C)
c.1631T>C (p.Met544Thr)
c.276+16405A>G (n.276+16405A>G)
c.*220+6139T>C (n.*220+6139T>C)
c.755T>C (p.Met252Thr)
c.782T>C (p.Met261Thr)
c.1637T>C (p.Met546Thr)
c.1451T>C (p.Met484Thr)
c.1370T>C (p.Met457Thr)
c.1076T>C (p.Met359Thr)
c.1457T>C (p.Met486Thr)
 dbSNP gnomAD v4 COSMIC
2g.48688085A>TCA346745033GTF2A1L,LHCGR,STON1-GTF2A1Lc.1712T>A (p.Met571Lys)
c.*24T>A (n.*24T>A)
c.3441+16405A>T (n.3441+16405A>T)
c.*456T>A (n.*456T>A)
c.1631T>A (p.Met544Lys)
c.276+16405A>T (n.276+16405A>T)
c.*220+6139T>A (n.*220+6139T>A)
c.755T>A (p.Met252Lys)
c.782T>A (p.Met261Lys)
c.1637T>A (p.Met546Lys)
c.1451T>A (p.Met484Lys)
c.1370T>A (p.Met457Lys)
c.1076T>A (p.Met359Lys)
c.1457T>A (p.Met486Lys)
2g.48688086T>ACA346745039GTF2A1L,LHCGR,STON1-GTF2A1Lc.1711A>T (p.Met571Leu)
c.*23A>T (n.*23A>T)
c.3441+16406T>A (n.3441+16406T>A)
c.*455A>T (n.*455A>T)
c.1630A>T (p.Met544Leu)
c.276+16406T>A (n.276+16406T>A)
c.*220+6138A>T (n.*220+6138A>T)
c.754A>T (p.Met252Leu)
c.781A>T (p.Met261Leu)
c.1636A>T (p.Met546Leu)
c.1450A>T (p.Met484Leu)
c.1369A>T (p.Met457Leu)
c.1075A>T (p.Met359Leu)
c.1456A>T (p.Met486Leu)
2g.48688086T>CCA346745040GTF2A1L,LHCGR,STON1-GTF2A1Lc.1711A>G (p.Met571Val)
c.*23A>G (n.*23A>G)
c.3441+16406T>C (n.3441+16406T>C)
c.*455A>G (n.*455A>G)
c.1630A>G (p.Met544Val)
c.276+16406T>C (n.276+16406T>C)
c.*220+6138A>G (n.*220+6138A>G)
c.754A>G (p.Met252Val)
c.781A>G (p.Met261Val)
c.1636A>G (p.Met546Val)
c.1450A>G (p.Met484Val)
c.1369A>G (p.Met457Val)
c.1075A>G (p.Met359Val)
c.1456A>G (p.Met486Val)
2g.48688086T>GCA346745044GTF2A1L,LHCGR,STON1-GTF2A1Lc.1711A>C (p.Met571Leu)
c.*23A>C (n.*23A>C)
c.3441+16406T>G (n.3441+16406T>G)
c.*455A>C (n.*455A>C)
c.1630A>C (p.Met544Leu)
c.276+16406T>G (n.276+16406T>G)
c.*220+6138A>C (n.*220+6138A>C)
c.754A>C (p.Met252Leu)
c.781A>C (p.Met261Leu)
c.1636A>C (p.Met546Leu)
c.1450A>C (p.Met484Leu)
c.1369A>C (p.Met457Leu)
c.1075A>C (p.Met359Leu)
c.1456A>C (p.Met486Leu)
2g.48688089delCA2658992081GTF2A1L,LHCGR,STON1-GTF2A1Lc.1711del (p.Met571TrpfsTer?)
c.*23del (n.*23del)
c.3441+16409del (n.3441+16409del)
c.*455del (n.*455del)
c.1630del (p.Met544TrpfsTer?)
c.276+16409del (n.276+16409del)
c.*220+6138del (n.*220+6138del)
c.754del (p.Met252TrpfsTer?)
c.781del (p.Met261TrpfsTer?)
c.1636del (p.Met546TrpfsTer?)
c.1450del (p.Met484TrpfsTer?)
c.1369del (p.Met457TrpfsTer?)
c.1075del (p.Met359TrpfsTer?)
c.1456del (p.Met486TrpfsTer?)
 gnomAD v4
2g.48688087T>ACA346745049GTF2A1L,LHCGR,STON1-GTF2A1Lc.1710A>T (p.Lys570Asn)
c.*22A>T (n.*22A>T)
c.3441+16407T>A (n.3441+16407T>A)
c.*454A>T (n.*454A>T)
c.1629A>T (p.Lys543Asn)
c.276+16407T>A (n.276+16407T>A)
c.*220+6137A>T (n.*220+6137A>T)
c.753A>T (p.Lys251Asn)
c.780A>T (p.Lys260Asn)
c.1635A>T (p.Lys545Asn)
c.1449A>T (p.Lys483Asn)
c.1368A>T (p.Lys456Asn)
c.1074A>T (p.Lys358Asn)
c.1455A>T (p.Lys485Asn)
 gnomAD v4
2g.48688087T>CCA426124953GTF2A1L,LHCGR,STON1-GTF2A1Lc.1710A>G (p.Lys570=)
c.*22A>G (n.*22A>G)
c.3441+16407T>C (n.3441+16407T>C)
c.*454A>G (n.*454A>G)
c.1629A>G (p.Lys543=)
c.276+16407T>C (n.276+16407T>C)
c.*220+6137A>G (n.*220+6137A>G)
c.753A>G (p.Lys251=)
c.780A>G (p.Lys260=)
c.1635A>G (p.Lys545=)
c.1449A>G (p.Lys483=)
c.1368A>G (p.Lys456=)
c.1074A>G (p.Lys358=)
c.1455A>G (p.Lys485=)
2g.48688087T>GCA346745051GTF2A1L,LHCGR,STON1-GTF2A1Lc.1710A>C (p.Lys570Asn)
c.*22A>C (n.*22A>C)
c.3441+16407T>G (n.3441+16407T>G)
c.*454A>C (n.*454A>C)
c.1629A>C (p.Lys543Asn)
c.276+16407T>G (n.276+16407T>G)
c.*220+6137A>C (n.*220+6137A>C)
c.753A>C (p.Lys251Asn)
c.780A>C (p.Lys260Asn)
c.1635A>C (p.Lys545Asn)
c.1449A>C (p.Lys483Asn)
c.1368A>C (p.Lys456Asn)
c.1074A>C (p.Lys358Asn)
c.1455A>C (p.Lys485Asn)
2g.48688088T>ACA346745052GTF2A1L,LHCGR,STON1-GTF2A1Lc.1709A>T (p.Lys570Ile)
c.*21A>T (n.*21A>T)
c.3441+16408T>A (n.3441+16408T>A)
c.*453A>T (n.*453A>T)
c.1628A>T (p.Lys543Ile)
c.276+16408T>A (n.276+16408T>A)
c.*220+6136A>T (n.*220+6136A>T)
c.752A>T (p.Lys251Ile)
c.779A>T (p.Lys260Ile)
c.1634A>T (p.Lys545Ile)
c.1448A>T (p.Lys483Ile)
c.1367A>T (p.Lys456Ile)
c.1073A>T (p.Lys358Ile)
c.1454A>T (p.Lys485Ile)
2g.48688088T>CCA346745056GTF2A1L,LHCGR,STON1-GTF2A1Lc.1709A>G (p.Lys570Arg)
c.*21A>G (n.*21A>G)
c.3441+16408T>C (n.3441+16408T>C)
c.*453A>G (n.*453A>G)
c.1628A>G (p.Lys543Arg)
c.276+16408T>C (n.276+16408T>C)
c.*220+6136A>G (n.*220+6136A>G)
c.752A>G (p.Lys251Arg)
c.779A>G (p.Lys260Arg)
c.1634A>G (p.Lys545Arg)
c.1448A>G (p.Lys483Arg)
c.1367A>G (p.Lys456Arg)
c.1073A>G (p.Lys358Arg)
c.1454A>G (p.Lys485Arg)
2g.48688088T>GCA346745054GTF2A1L,LHCGR,STON1-GTF2A1Lc.1709A>C (p.Lys570Thr)
c.*21A>C (n.*21A>C)
c.3441+16408T>G (n.3441+16408T>G)
c.*453A>C (n.*453A>C)
c.1628A>C (p.Lys543Thr)
c.276+16408T>G (n.276+16408T>G)
c.*220+6136A>C (n.*220+6136A>C)
c.752A>C (p.Lys251Thr)
c.779A>C (p.Lys260Thr)
c.1634A>C (p.Lys545Thr)
c.1448A>C (p.Lys483Thr)
c.1367A>C (p.Lys456Thr)
c.1073A>C (p.Lys358Thr)
c.1454A>C (p.Lys485Thr)
2g.48688089T>ACA346745057GTF2A1L,LHCGR,STON1-GTF2A1Lc.1708A>T (p.Lys570Ter)
c.*20A>T (n.*20A>T)
c.3441+16409T>A (n.3441+16409T>A)
c.*452A>T (n.*452A>T)
c.1627A>T (p.Lys543Ter)
c.276+16409T>A (n.276+16409T>A)
c.*220+6135A>T (n.*220+6135A>T)
c.751A>T (p.Lys251Ter)
c.778A>T (p.Lys260Ter)
c.1633A>T (p.Lys545Ter)
c.1447A>T (p.Lys483Ter)
c.1366A>T (p.Lys456Ter)
c.1072A>T (p.Lys358Ter)
c.1453A>T (p.Lys485Ter)
 dbSNP
2g.48688089T>CCA346745059GTF2A1L,LHCGR,STON1-GTF2A1Lc.1708A>G (p.Lys570Glu)
c.*20A>G (n.*20A>G)
c.3441+16409T>C (n.3441+16409T>C)
c.*452A>G (n.*452A>G)
c.1627A>G (p.Lys543Glu)
c.276+16409T>C (n.276+16409T>C)
c.*220+6135A>G (n.*220+6135A>G)
c.751A>G (p.Lys251Glu)
c.778A>G (p.Lys260Glu)
c.1633A>G (p.Lys545Glu)
c.1447A>G (p.Lys483Glu)
c.1366A>G (p.Lys456Glu)
c.1072A>G (p.Lys358Glu)
c.1453A>G (p.Lys485Glu)
2g.48688089T>GCA346745065GTF2A1L,LHCGR,STON1-GTF2A1Lc.1708A>C (p.Lys570Gln)
c.*20A>C (n.*20A>C)
c.3441+16409T>G (n.3441+16409T>G)
c.*452A>C (n.*452A>C)
c.1627A>C (p.Lys543Gln)
c.276+16409T>G (n.276+16409T>G)
c.*220+6135A>C (n.*220+6135A>C)
c.751A>C (p.Lys251Gln)
c.778A>C (p.Lys260Gln)
c.1633A>C (p.Lys545Gln)
c.1447A>C (p.Lys483Gln)
c.1366A>C (p.Lys456Gln)
c.1072A>C (p.Lys358Gln)
c.1453A>C (p.Lys485Gln)
 gnomAD v4
2g.48688089T=CA1248600984GTF2A1L,LHCGR,STON1-GTF2A1Lc.1708A= (p.Lys570=)
c.*20A= (n.*20A=)
c.3441+16409T= (n.3441+16409T=)
c.*452A= (n.*452A=)
c.1627A= (p.Lys543=)
c.276+16409T= (n.276+16409T=)
c.*220+6135A= (n.*220+6135A=)
c.751A= (p.Lys251=)
c.778A= (p.Lys260=)
c.1633A= (p.Lys545=)
c.1447A= (p.Lys483=)
c.1366A= (p.Lys456=)
c.1072A= (p.Lys358=)
c.1453A= (p.Lys485=)
2g.48688090C>ACA346745068GTF2A1L,LHCGR,STON1-GTF2A1Lc.1707G>T (p.Lys569Asn)
c.*19G>T (n.*19G>T)
c.3441+16410C>A (n.3441+16410C>A)
c.*451G>T (n.*451G>T)
c.1626G>T (p.Lys542Asn)
c.276+16410C>A (n.276+16410C>A)
c.*220+6134G>T (n.*220+6134G>T)
c.750G>T (p.Lys250Asn)
c.777G>T (p.Lys259Asn)
c.1632G>T (p.Lys544Asn)
c.1446G>T (p.Lys482Asn)
c.1365G>T (p.Lys455Asn)
c.1071G>T (p.Lys357Asn)
c.1452G>T (p.Lys484Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.48688090C=CA1248600985GTF2A1L,LHCGR,STON1-GTF2A1Lc.1707G= (p.Lys569=)
c.*19G= (n.*19G=)
c.3441+16410C= (n.3441+16410C=)
c.*451G= (n.*451G=)
c.1626G= (p.Lys542=)
c.276+16410C= (n.276+16410C=)
c.*220+6134G= (n.*220+6134G=)
c.750G= (p.Lys250=)
c.777G= (p.Lys259=)
c.1632G= (p.Lys544=)
c.1446G= (p.Lys482=)
c.1365G= (p.Lys455=)
c.1071G= (p.Lys357=)
c.1452G= (p.Lys484=)
2g.48688090C>GCA346745082GTF2A1L,LHCGR,STON1-GTF2A1Lc.1707G>C (p.Lys569Asn)
c.*19G>C (n.*19G>C)
c.3441+16410C>G (n.3441+16410C>G)
c.*451G>C (n.*451G>C)
c.1626G>C (p.Lys542Asn)
c.276+16410C>G (n.276+16410C>G)
c.*220+6134G>C (n.*220+6134G>C)
c.750G>C (p.Lys250Asn)
c.777G>C (p.Lys259Asn)
c.1632G>C (p.Lys544Asn)
c.1446G>C (p.Lys482Asn)
c.1365G>C (p.Lys455Asn)
c.1071G>C (p.Lys357Asn)
c.1452G>C (p.Lys484Asn)
2g.48688090C>TCA426124958GTF2A1L,LHCGR,STON1-GTF2A1Lc.1707G>A (p.Lys569=)
c.*19G>A (n.*19G>A)
c.3441+16410C>T (n.3441+16410C>T)
c.*451G>A (n.*451G>A)
c.1626G>A (p.Lys542=)
c.276+16410C>T (n.276+16410C>T)
c.*220+6134G>A (n.*220+6134G>A)
c.750G>A (p.Lys250=)
c.777G>A (p.Lys259=)
c.1632G>A (p.Lys544=)
c.1446G>A (p.Lys482=)
c.1365G>A (p.Lys455=)
c.1071G>A (p.Lys357=)
c.1452G>A (p.Lys484=)
2g.48688091T>ACA346745086GTF2A1L,LHCGR,STON1-GTF2A1Lc.1706A>T (p.Lys569Met)
c.*18A>T (n.*18A>T)
c.3441+16411T>A (n.3441+16411T>A)
c.*450A>T (n.*450A>T)
c.1625A>T (p.Lys542Met)
c.276+16411T>A (n.276+16411T>A)
c.*220+6133A>T (n.*220+6133A>T)
c.749A>T (p.Lys250Met)
c.776A>T (p.Lys259Met)
c.1631A>T (p.Lys544Met)
c.1445A>T (p.Lys482Met)
c.1364A>T (p.Lys455Met)
c.1070A>T (p.Lys357Met)
c.1451A>T (p.Lys484Met)
2g.48688091T>CCA346745087GTF2A1L,LHCGR,STON1-GTF2A1Lc.1706A>G (p.Lys569Arg)
c.*18A>G (n.*18A>G)
c.3441+16411T>C (n.3441+16411T>C)
c.*450A>G (n.*450A>G)
c.1625A>G (p.Lys542Arg)
c.276+16411T>C (n.276+16411T>C)
c.*220+6133A>G (n.*220+6133A>G)
c.749A>G (p.Lys250Arg)
c.776A>G (p.Lys259Arg)
c.1631A>G (p.Lys544Arg)
c.1445A>G (p.Lys482Arg)
c.1364A>G (p.Lys455Arg)
c.1070A>G (p.Lys357Arg)
c.1451A>G (p.Lys484Arg)
 gnomAD v4
2g.48688091T>GCA346745089GTF2A1L,LHCGR,STON1-GTF2A1Lc.1706A>C (p.Lys569Thr)
c.*18A>C (n.*18A>C)
c.3441+16411T>G (n.3441+16411T>G)
c.*450A>C (n.*450A>C)
c.1625A>C (p.Lys542Thr)
c.276+16411T>G (n.276+16411T>G)
c.*220+6133A>C (n.*220+6133A>C)
c.749A>C (p.Lys250Thr)
c.776A>C (p.Lys259Thr)
c.1631A>C (p.Lys544Thr)
c.1445A>C (p.Lys482Thr)
c.1364A>C (p.Lys455Thr)
c.1070A>C (p.Lys357Thr)
c.1451A>C (p.Lys484Thr)
2g.48688092T>ACA346745091GTF2A1L,LHCGR,STON1-GTF2A1Lc.1705A>T (p.Lys569Ter)
c.*17A>T (n.*17A>T)
c.3441+16412T>A (n.3441+16412T>A)
c.*449A>T (n.*449A>T)
c.1624A>T (p.Lys542Ter)
c.276+16412T>A (n.276+16412T>A)
c.*220+6132A>T (n.*220+6132A>T)
c.748A>T (p.Lys250Ter)
c.775A>T (p.Lys259Ter)
c.1630A>T (p.Lys544Ter)
c.1444A>T (p.Lys482Ter)
c.1363A>T (p.Lys455Ter)
c.1069A>T (p.Lys357Ter)
c.1450A>T (p.Lys484Ter)
2g.48688092T>CCA346745092GTF2A1L,LHCGR,STON1-GTF2A1Lc.1705A>G (p.Lys569Glu)
c.*17A>G (n.*17A>G)
c.3441+16412T>C (n.3441+16412T>C)
c.*449A>G (n.*449A>G)
c.1624A>G (p.Lys542Glu)
c.276+16412T>C (n.276+16412T>C)
c.*220+6132A>G (n.*220+6132A>G)
c.748A>G (p.Lys250Glu)
c.775A>G (p.Lys259Glu)
c.1630A>G (p.Lys544Glu)
c.1444A>G (p.Lys482Glu)
c.1363A>G (p.Lys455Glu)
c.1069A>G (p.Lys357Glu)
c.1450A>G (p.Lys484Glu)
2g.48688092T>GCA346745095GTF2A1L,LHCGR,STON1-GTF2A1Lc.1705A>C (p.Lys569Gln)
c.*17A>C (n.*17A>C)
c.3441+16412T>G (n.3441+16412T>G)
c.*449A>C (n.*449A>C)
c.1624A>C (p.Lys542Gln)
c.276+16412T>G (n.276+16412T>G)
c.*220+6132A>C (n.*220+6132A>C)
c.748A>C (p.Lys250Gln)
c.775A>C (p.Lys259Gln)
c.1630A>C (p.Lys544Gln)
c.1444A>C (p.Lys482Gln)
c.1363A>C (p.Lys455Gln)
c.1069A>C (p.Lys357Gln)
c.1450A>C (p.Lys484Gln)
2g.48688093A=CA1248600986GTF2A1L,LHCGR,STON1-GTF2A1Lc.1704T= (p.Ala568=)
c.*16T= (n.*16T=)
c.3441+16413A= (n.3441+16413A=)
c.*448T= (n.*448T=)
c.1623T= (p.Ala541=)
c.276+16413A= (n.276+16413A=)
c.*220+6131T= (n.*220+6131T=)
c.747T= (p.Ala249=)
c.774T= (p.Ala258=)
c.1629T= (p.Ala543=)
c.1443T= (p.Ala481=)
c.1362T= (p.Ala454=)
c.1068T= (p.Ala356=)
c.1449T= (p.Ala483=)
2g.48688093A>CCA426124960GTF2A1L,LHCGR,STON1-GTF2A1Lc.1704T>G (p.Ala568=)
c.*16T>G (n.*16T>G)
c.3441+16413A>C (n.3441+16413A>C)
c.*448T>G (n.*448T>G)
c.1623T>G (p.Ala541=)
c.276+16413A>C (n.276+16413A>C)
c.*220+6131T>G (n.*220+6131T>G)
c.747T>G (p.Ala249=)
c.774T>G (p.Ala258=)
c.1629T>G (p.Ala543=)
c.1443T>G (p.Ala481=)
c.1362T>G (p.Ala454=)
c.1068T>G (p.Ala356=)
c.1449T>G (p.Ala483=)
2g.48688093A>GCA426124961GTF2A1L,LHCGR,STON1-GTF2A1Lc.1704T>C (p.Ala568=)
c.*16T>C (n.*16T>C)
c.3441+16413A>G (n.3441+16413A>G)
c.*448T>C (n.*448T>C)
c.1623T>C (p.Ala541=)
c.276+16413A>G (n.276+16413A>G)
c.*220+6131T>C (n.*220+6131T>C)
c.747T>C (p.Ala249=)
c.774T>C (p.Ala258=)
c.1629T>C (p.Ala543=)
c.1443T>C (p.Ala481=)
c.1362T>C (p.Ala454=)
c.1068T>C (p.Ala356=)
c.1449T>C (p.Ala483=)
2g.48688093A>TCA426124962GTF2A1L,LHCGR,STON1-GTF2A1Lc.1704T>A (p.Ala568=)
c.*16T>A (n.*16T>A)
c.3441+16413A>T (n.3441+16413A>T)
c.*448T>A (n.*448T>A)
c.1623T>A (p.Ala541=)
c.276+16413A>T (n.276+16413A>T)
c.*220+6131T>A (n.*220+6131T>A)
c.747T>A (p.Ala249=)
c.774T>A (p.Ala258=)
c.1629T>A (p.Ala543=)
c.1443T>A (p.Ala481=)
c.1362T>A (p.Ala454=)
c.1068T>A (p.Ala356=)
c.1449T>A (p.Ala483=)
 dbSNP gnomAD v2 gnomAD v4
2g.48688094G>ACA123933GTF2A1L,LHCGR,STON1-GTF2A1Lc.1703C>T (p.Ala568Val)
c.*15C>T (n.*15C>T)
c.3441+16414G>A (n.3441+16414G>A)
c.*447C>T (n.*447C>T)
c.1622C>T (p.Ala541Val)
c.276+16414G>A (n.276+16414G>A)
c.*220+6130C>T (n.*220+6130C>T)
c.746C>T (p.Ala249Val)
c.773C>T (p.Ala258Val)
c.1628C>T (p.Ala543Val)
c.1442C>T (p.Ala481Val)
c.1361C>T (p.Ala454Val)
c.1067C>T (p.Ala356Val)
c.1448C>T (p.Ala483Val)
 ClinVar dbSNP
2g.48688094G>CCA346745111GTF2A1L,LHCGR,STON1-GTF2A1Lc.1703C>G (p.Ala568Gly)
c.*15C>G (n.*15C>G)
c.3441+16414G>C (n.3441+16414G>C)
c.*447C>G (n.*447C>G)
c.1622C>G (p.Ala541Gly)
c.276+16414G>C (n.276+16414G>C)
c.*220+6130C>G (n.*220+6130C>G)
c.746C>G (p.Ala249Gly)
c.773C>G (p.Ala258Gly)
c.1628C>G (p.Ala543Gly)
c.1442C>G (p.Ala481Gly)
c.1361C>G (p.Ala454Gly)
c.1067C>G (p.Ala356Gly)
c.1448C>G (p.Ala483Gly)
2g.48688094G=CA1248600987GTF2A1L,LHCGR,STON1-GTF2A1Lc.1703C= (p.Ala568=)
c.*15C= (n.*15C=)
c.3441+16414G= (n.3441+16414G=)
c.*447C= (n.*447C=)
c.1622C= (p.Ala541=)
c.276+16414G= (n.276+16414G=)
c.*220+6130C= (n.*220+6130C=)
c.746C= (p.Ala249=)
c.773C= (p.Ala258=)
c.1628C= (p.Ala543=)
c.1442C= (p.Ala481=)
c.1361C= (p.Ala454=)
c.1067C= (p.Ala356=)
c.1448C= (p.Ala483=)
2g.48688094G>TCA346745104GTF2A1L,LHCGR,STON1-GTF2A1Lc.1703C>A (p.Ala568Asp)
c.*15C>A (n.*15C>A)
c.3441+16414G>T (n.3441+16414G>T)
c.*447C>A (n.*447C>A)
c.1622C>A (p.Ala541Asp)
c.276+16414G>T (n.276+16414G>T)
c.*220+6130C>A (n.*220+6130C>A)
c.746C>A (p.Ala249Asp)
c.773C>A (p.Ala258Asp)
c.1628C>A (p.Ala543Asp)
c.1442C>A (p.Ala481Asp)
c.1361C>A (p.Ala454Asp)
c.1067C>A (p.Ala356Asp)
c.1448C>A (p.Ala483Asp)
 dbSNP gnomAD v3 gnomAD v4
2g.48688095C>ACA346745114GTF2A1L,LHCGR,STON1-GTF2A1Lc.1702G>T (p.Ala568Ser)
c.*14G>T (n.*14G>T)
c.3441+16415C>A (n.3441+16415C>A)
c.*446G>T (n.*446G>T)
c.1621G>T (p.Ala541Ser)
c.276+16415C>A (n.276+16415C>A)
c.*220+6129G>T (n.*220+6129G>T)
c.745G>T (p.Ala249Ser)
c.772G>T (p.Ala258Ser)
c.1627G>T (p.Ala543Ser)
c.1441G>T (p.Ala481Ser)
c.1360G>T (p.Ala454Ser)
c.1066G>T (p.Ala356Ser)
c.1447G>T (p.Ala483Ser)
2g.48688095C>GCA346745118GTF2A1L,LHCGR,STON1-GTF2A1Lc.1702G>C (p.Ala568Pro)
c.*14G>C (n.*14G>C)
c.3441+16415C>G (n.3441+16415C>G)
c.*446G>C (n.*446G>C)
c.1621G>C (p.Ala541Pro)
c.276+16415C>G (n.276+16415C>G)
c.*220+6129G>C (n.*220+6129G>C)
c.745G>C (p.Ala249Pro)
c.772G>C (p.Ala258Pro)
c.1627G>C (p.Ala543Pro)
c.1441G>C (p.Ala481Pro)
c.1360G>C (p.Ala454Pro)
c.1066G>C (p.Ala356Pro)
c.1447G>C (p.Ala483Pro)
2g.48688095C>TCA346745121GTF2A1L,LHCGR,STON1-GTF2A1Lc.1702G>A (p.Ala568Thr)
c.*14G>A (n.*14G>A)
c.3441+16415C>T (n.3441+16415C>T)
c.*446G>A (n.*446G>A)
c.1621G>A (p.Ala541Thr)
c.276+16415C>T (n.276+16415C>T)
c.*220+6129G>A (n.*220+6129G>A)
c.745G>A (p.Ala249Thr)
c.772G>A (p.Ala258Thr)
c.1627G>A (p.Ala543Thr)
c.1441G>A (p.Ala481Thr)
c.1360G>A (p.Ala454Thr)
c.1066G>A (p.Ala356Thr)
c.1447G>A (p.Ala483Thr)
2g.48688096A=CA1248600988GTF2A1L,LHCGR,STON1-GTF2A1Lc.1701T= (p.Ile567=)
c.*13T= (n.*13T=)
c.3441+16416A= (n.3441+16416A=)
c.*445T= (n.*445T=)
c.1620T= (p.Ile540=)
c.276+16416A= (n.276+16416A=)
c.*220+6128T= (n.*220+6128T=)
c.744T= (p.Ile248=)
c.771T= (p.Ile257=)
c.1626T= (p.Ile542=)
c.1440T= (p.Ile480=)
c.1359T= (p.Ile453=)
c.1065T= (p.Ile355=)
c.1446T= (p.Ile482=)
2g.48688096A>CCA346745124GTF2A1L,LHCGR,STON1-GTF2A1Lc.1701T>G (p.Ile567Met)
c.*13T>G (n.*13T>G)
c.3441+16416A>C (n.3441+16416A>C)
c.*445T>G (n.*445T>G)
c.1620T>G (p.Ile540Met)
c.276+16416A>C (n.276+16416A>C)
c.*220+6128T>G (n.*220+6128T>G)
c.744T>G (p.Ile248Met)
c.771T>G (p.Ile257Met)
c.1626T>G (p.Ile542Met)
c.1440T>G (p.Ile480Met)
c.1359T>G (p.Ile453Met)
c.1065T>G (p.Ile355Met)
c.1446T>G (p.Ile482Met)
 gnomAD v4
2g.48688096A>GCA426124965GTF2A1L,LHCGR,STON1-GTF2A1Lc.1701T>C (p.Ile567=)
c.*13T>C (n.*13T>C)
c.3441+16416A>G (n.3441+16416A>G)
c.*445T>C (n.*445T>C)
c.1620T>C (p.Ile540=)
c.276+16416A>G (n.276+16416A>G)
c.*220+6128T>C (n.*220+6128T>C)
c.744T>C (p.Ile248=)
c.771T>C (p.Ile257=)
c.1626T>C (p.Ile542=)
c.1440T>C (p.Ile480=)
c.1359T>C (p.Ile453=)
c.1065T>C (p.Ile355=)
c.1446T>C (p.Ile482=)
2g.48688096A>TCA46752825GTF2A1L,LHCGR,STON1-GTF2A1Lc.1701T>A (p.Ile567=)
c.*13T>A (n.*13T>A)
c.3441+16416A>T (n.3441+16416A>T)
c.*445T>A (n.*445T>A)
c.1620T>A (p.Ile540=)
c.276+16416A>T (n.276+16416A>T)
c.*220+6128T>A (n.*220+6128T>A)
c.744T>A (p.Ile248=)
c.771T>A (p.Ile257=)
c.1626T>A (p.Ile542=)
c.1440T>A (p.Ile480=)
c.1359T>A (p.Ile453=)
c.1065T>A (p.Ile355=)
c.1446T>A (p.Ile482=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688097A>CCA346745131GTF2A1L,LHCGR,STON1-GTF2A1Lc.1700T>G (p.Ile567Ser)
c.*12T>G (n.*12T>G)
c.3441+16417A>C (n.3441+16417A>C)
c.*444T>G (n.*444T>G)
c.1619T>G (p.Ile540Ser)
c.276+16417A>C (n.276+16417A>C)
c.*220+6127T>G (n.*220+6127T>G)
c.743T>G (p.Ile248Ser)
c.770T>G (p.Ile257Ser)
c.1625T>G (p.Ile542Ser)
c.1439T>G (p.Ile480Ser)
c.1358T>G (p.Ile453Ser)
c.1064T>G (p.Ile355Ser)
c.1445T>G (p.Ile482Ser)
2g.48688097A>GCA346745134GTF2A1L,LHCGR,STON1-GTF2A1Lc.1700T>C (p.Ile567Thr)
c.*12T>C (n.*12T>C)
c.3441+16417A>G (n.3441+16417A>G)
c.*444T>C (n.*444T>C)
c.1619T>C (p.Ile540Thr)
c.276+16417A>G (n.276+16417A>G)
c.*220+6127T>C (n.*220+6127T>C)
c.743T>C (p.Ile248Thr)
c.770T>C (p.Ile257Thr)
c.1625T>C (p.Ile542Thr)
c.1439T>C (p.Ile480Thr)
c.1358T>C (p.Ile453Thr)
c.1064T>C (p.Ile355Thr)
c.1445T>C (p.Ile482Thr)
2g.48688097A>TCA346745136GTF2A1L,LHCGR,STON1-GTF2A1Lc.1700T>A (p.Ile567Asn)
c.*12T>A (n.*12T>A)
c.3441+16417A>T (n.3441+16417A>T)
c.*444T>A (n.*444T>A)
c.1619T>A (p.Ile540Asn)
c.276+16417A>T (n.276+16417A>T)
c.*220+6127T>A (n.*220+6127T>A)
c.743T>A (p.Ile248Asn)
c.770T>A (p.Ile257Asn)
c.1625T>A (p.Ile542Asn)
c.1439T>A (p.Ile480Asn)
c.1358T>A (p.Ile453Asn)
c.1064T>A (p.Ile355Asn)
c.1445T>A (p.Ile482Asn)
2g.48688098T>ACA346745141GTF2A1L,LHCGR,STON1-GTF2A1Lc.1699A>T (p.Ile567Phe)
c.*11A>T (n.*11A>T)
c.3441+16418T>A (n.3441+16418T>A)
c.*443A>T (n.*443A>T)
c.1618A>T (p.Ile540Phe)
c.276+16418T>A (n.276+16418T>A)
c.*220+6126A>T (n.*220+6126A>T)
c.742A>T (p.Ile248Phe)
c.769A>T (p.Ile257Phe)
c.1624A>T (p.Ile542Phe)
c.1438A>T (p.Ile480Phe)
c.1357A>T (p.Ile453Phe)
c.1063A>T (p.Ile355Phe)
c.1444A>T (p.Ile482Phe)
 gnomAD v4
2g.48688098T>CCA346745144GTF2A1L,LHCGR,STON1-GTF2A1Lc.1699A>G (p.Ile567Val)
c.*11A>G (n.*11A>G)
c.3441+16418T>C (n.3441+16418T>C)
c.*443A>G (n.*443A>G)
c.1618A>G (p.Ile540Val)
c.276+16418T>C (n.276+16418T>C)
c.*220+6126A>G (n.*220+6126A>G)
c.742A>G (p.Ile248Val)
c.769A>G (p.Ile257Val)
c.1624A>G (p.Ile542Val)
c.1438A>G (p.Ile480Val)
c.1357A>G (p.Ile453Val)
c.1063A>G (p.Ile355Val)
c.1444A>G (p.Ile482Val)
 dbSNP
2g.48688098T>GCA346745149GTF2A1L,LHCGR,STON1-GTF2A1Lc.1699A>C (p.Ile567Leu)
c.*11A>C (n.*11A>C)
c.3441+16418T>G (n.3441+16418T>G)
c.*443A>C (n.*443A>C)
c.1618A>C (p.Ile540Leu)
c.276+16418T>G (n.276+16418T>G)
c.*220+6126A>C (n.*220+6126A>C)
c.742A>C (p.Ile248Leu)
c.769A>C (p.Ile257Leu)
c.1624A>C (p.Ile542Leu)
c.1438A>C (p.Ile480Leu)
c.1357A>C (p.Ile453Leu)
c.1063A>C (p.Ile355Leu)
c.1444A>C (p.Ile482Leu)
2g.48688098T=CA1248600990GTF2A1L,LHCGR,STON1-GTF2A1Lc.1699A= (p.Ile567=)
c.*11A= (n.*11A=)
c.3441+16418T= (n.3441+16418T=)
c.*443A= (n.*443A=)
c.1618A= (p.Ile540=)
c.276+16418T= (n.276+16418T=)
c.*220+6126A= (n.*220+6126A=)
c.742A= (p.Ile248=)
c.769A= (p.Ile257=)
c.1624A= (p.Ile542=)
c.1438A= (p.Ile480=)
c.1357A= (p.Ile453=)
c.1063A= (p.Ile355=)
c.1444A= (p.Ile482=)
2g.48688098_48688099delinsTCCA1248600989GTF2A1L,LHCGR,STON1-GTF2A1Lc.1698_1699delinsGA (p.Lys566=)
c.*10_*11delinsGA (n.*10_*11delinsGA)
c.3441+16418_3441+16419delinsTC (n.3441+16418_3441+16419delinsTC)
c.*442_*443delinsGA (n.*442_*443delinsGA)
c.1617_1618delinsGA (p.Lys539=)
c.276+16418_276+16419delinsTC (n.276+16418_276+16419delinsTC)
c.*220+6125_*220+6126delinsGA (n.*220+6125_*220+6126delinsGA)
c.741_742delinsGA (p.Lys247=)
c.768_769delinsGA (p.Lys256=)
c.1623_1624delinsGA (p.Lys541=)
c.1437_1438delinsGA (p.Lys479=)
c.1356_1357delinsGA (p.Lys452=)
c.1062_1063delinsGA (p.Lys354=)
c.1443_1444delinsGA (p.Lys481=)
2g.48688099delCA532706159GTF2A1L,LHCGR,STON1-GTF2A1Lc.1698del (p.Ile567LeufsTer?)
c.*10del (n.*10del)
c.3441+16419del (n.3441+16419del)
c.*442del (n.*442del)
c.1617del (p.Ile540LeufsTer?)
c.276+16419del (n.276+16419del)
c.*220+6125del (n.*220+6125del)
c.741del (p.Ile248LeufsTer?)
c.768del (p.Ile257LeufsTer?)
c.1623del (p.Ile542LeufsTer?)
c.1437del (p.Ile480LeufsTer?)
c.1356del (p.Ile453LeufsTer?)
c.1062del (p.Ile355LeufsTer?)
c.1443del (p.Ile482LeufsTer?)
 dbSNP gnomAD v2
2g.48688099C>ACA346745150GTF2A1L,LHCGR,STON1-GTF2A1Lc.1698G>T (p.Lys566Asn)
c.*10G>T (n.*10G>T)
c.3441+16419C>A (n.3441+16419C>A)
c.*442G>T (n.*442G>T)
c.1617G>T (p.Lys539Asn)
c.276+16419C>A (n.276+16419C>A)
c.*220+6125G>T (n.*220+6125G>T)
c.741G>T (p.Lys247Asn)
c.768G>T (p.Lys256Asn)
c.1623G>T (p.Lys541Asn)
c.1437G>T (p.Lys479Asn)
c.1356G>T (p.Lys452Asn)
c.1062G>T (p.Lys354Asn)
c.1443G>T (p.Lys481Asn)
2g.48688099C=CA1248600991GTF2A1L,LHCGR,STON1-GTF2A1Lc.1698G= (p.Lys566=)
c.*10G= (n.*10G=)
c.3441+16419C= (n.3441+16419C=)
c.*442G= (n.*442G=)
c.1617G= (p.Lys539=)
c.276+16419C= (n.276+16419C=)
c.*220+6125G= (n.*220+6125G=)
c.741G= (p.Lys247=)
c.768G= (p.Lys256=)
c.1623G= (p.Lys541=)
c.1437G= (p.Lys479=)
c.1356G= (p.Lys452=)
c.1062G= (p.Lys354=)
c.1443G= (p.Lys481=)
2g.48688099C>GCA346745153GTF2A1L,LHCGR,STON1-GTF2A1Lc.1698G>C (p.Lys566Asn)
c.*10G>C (n.*10G>C)
c.3441+16419C>G (n.3441+16419C>G)
c.*442G>C (n.*442G>C)
c.1617G>C (p.Lys539Asn)
c.276+16419C>G (n.276+16419C>G)
c.*220+6125G>C (n.*220+6125G>C)
c.741G>C (p.Lys247Asn)
c.768G>C (p.Lys256Asn)
c.1623G>C (p.Lys541Asn)
c.1437G>C (p.Lys479Asn)
c.1356G>C (p.Lys452Asn)
c.1062G>C (p.Lys354Asn)
c.1443G>C (p.Lys481Asn)
2g.48688099C>TCA426124969GTF2A1L,LHCGR,STON1-GTF2A1Lc.1698G>A (p.Lys566=)
c.*10G>A (n.*10G>A)
c.3441+16419C>T (n.3441+16419C>T)
c.*442G>A (n.*442G>A)
c.1617G>A (p.Lys539=)
c.276+16419C>T (n.276+16419C>T)
c.*220+6125G>A (n.*220+6125G>A)
c.741G>A (p.Lys247=)
c.768G>A (p.Lys256=)
c.1623G>A (p.Lys541=)
c.1437G>A (p.Lys479=)
c.1356G>A (p.Lys452=)
c.1062G>A (p.Lys354=)
c.1443G>A (p.Lys481=)
 dbSNP gnomAD v2 gnomAD v4
2g.48688100T>ACA346745158GTF2A1L,LHCGR,STON1-GTF2A1Lc.1697A>T (p.Lys566Met)
c.*9A>T (n.*9A>T)
c.3441+16420T>A (n.3441+16420T>A)
c.*441A>T (n.*441A>T)
c.1616A>T (p.Lys539Met)
c.276+16420T>A (n.276+16420T>A)
c.*220+6124A>T (n.*220+6124A>T)
c.740A>T (p.Lys247Met)
c.767A>T (p.Lys256Met)
c.1622A>T (p.Lys541Met)
c.1436A>T (p.Lys479Met)
c.1355A>T (p.Lys452Met)
c.1061A>T (p.Lys354Met)
c.1442A>T (p.Lys481Met)
2g.48688100T>CCA346745166GTF2A1L,LHCGR,STON1-GTF2A1Lc.1697A>G (p.Lys566Arg)
c.*9A>G (n.*9A>G)
c.3441+16420T>C (n.3441+16420T>C)
c.*441A>G (n.*441A>G)
c.1616A>G (p.Lys539Arg)
c.276+16420T>C (n.276+16420T>C)
c.*220+6124A>G (n.*220+6124A>G)
c.740A>G (p.Lys247Arg)
c.767A>G (p.Lys256Arg)
c.1622A>G (p.Lys541Arg)
c.1436A>G (p.Lys479Arg)
c.1355A>G (p.Lys452Arg)
c.1061A>G (p.Lys354Arg)
c.1442A>G (p.Lys481Arg)
2g.48688100T>GCA346745161GTF2A1L,LHCGR,STON1-GTF2A1Lc.1697A>C (p.Lys566Thr)
c.*9A>C (n.*9A>C)
c.3441+16420T>G (n.3441+16420T>G)
c.*441A>C (n.*441A>C)
c.1616A>C (p.Lys539Thr)
c.276+16420T>G (n.276+16420T>G)
c.*220+6124A>C (n.*220+6124A>C)
c.740A>C (p.Lys247Thr)
c.767A>C (p.Lys256Thr)
c.1622A>C (p.Lys541Thr)
c.1436A>C (p.Lys479Thr)
c.1355A>C (p.Lys452Thr)
c.1061A>C (p.Lys354Thr)
c.1442A>C (p.Lys481Thr)
2g.48688101T>ACA346745168GTF2A1L,LHCGR,STON1-GTF2A1Lc.1696A>T (p.Lys566Ter)
c.*8A>T (n.*8A>T)
c.3441+16421T>A (n.3441+16421T>A)
c.*440A>T (n.*440A>T)
c.1615A>T (p.Lys539Ter)
c.276+16421T>A (n.276+16421T>A)
c.*220+6123A>T (n.*220+6123A>T)
c.739A>T (p.Lys247Ter)
c.766A>T (p.Lys256Ter)
c.1621A>T (p.Lys541Ter)
c.1435A>T (p.Lys479Ter)
c.1354A>T (p.Lys452Ter)
c.1060A>T (p.Lys354Ter)
c.1441A>T (p.Lys481Ter)
2g.48688101T>CCA346745169GTF2A1L,LHCGR,STON1-GTF2A1Lc.1696A>G (p.Lys566Glu)
c.*8A>G (n.*8A>G)
c.3441+16421T>C (n.3441+16421T>C)
c.*440A>G (n.*440A>G)
c.1615A>G (p.Lys539Glu)
c.276+16421T>C (n.276+16421T>C)
c.*220+6123A>G (n.*220+6123A>G)
c.739A>G (p.Lys247Glu)
c.766A>G (p.Lys256Glu)
c.1621A>G (p.Lys541Glu)
c.1435A>G (p.Lys479Glu)
c.1354A>G (p.Lys452Glu)
c.1060A>G (p.Lys354Glu)
c.1441A>G (p.Lys481Glu)
2g.48688101T>GCA346745170GTF2A1L,LHCGR,STON1-GTF2A1Lc.1696A>C (p.Lys566Gln)
c.*8A>C (n.*8A>C)
c.3441+16421T>G (n.3441+16421T>G)
c.*440A>C (n.*440A>C)
c.1615A>C (p.Lys539Gln)
c.276+16421T>G (n.276+16421T>G)
c.*220+6123A>C (n.*220+6123A>C)
c.739A>C (p.Lys247Gln)
c.766A>C (p.Lys256Gln)
c.1621A>C (p.Lys541Gln)
c.1435A>C (p.Lys479Gln)
c.1354A>C (p.Lys452Gln)
c.1060A>C (p.Lys354Gln)
c.1441A>C (p.Lys481Gln)
2g.48688102T>ACA1653001GTF2A1L,LHCGR,STON1-GTF2A1Lc.1695A>T (p.Thr565=)
c.*7A>T (n.*7A>T)
c.3441+16422T>A (n.3441+16422T>A)
c.*439A>T (n.*439A>T)
c.1614A>T (p.Thr538=)
c.276+16422T>A (n.276+16422T>A)
c.*220+6122A>T (n.*220+6122A>T)
c.738A>T (p.Thr246=)
c.765A>T (p.Thr255=)
c.1620A>T (p.Thr540=)
c.1434A>T (p.Thr478=)
c.1353A>T (p.Thr451=)
c.1059A>T (p.Thr353=)
c.1440A>T (p.Thr480=)
 dbSNP ExAC
2g.48688102T>CCA426124976GTF2A1L,LHCGR,STON1-GTF2A1Lc.1695A>G (p.Thr565=)
c.*7A>G (n.*7A>G)
c.3441+16422T>C (n.3441+16422T>C)
c.*439A>G (n.*439A>G)
c.1614A>G (p.Thr538=)
c.276+16422T>C (n.276+16422T>C)
c.*220+6122A>G (n.*220+6122A>G)
c.738A>G (p.Thr246=)
c.765A>G (p.Thr255=)
c.1620A>G (p.Thr540=)
c.1434A>G (p.Thr478=)
c.1353A>G (p.Thr451=)
c.1059A>G (p.Thr353=)
c.1440A>G (p.Thr480=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688102T>GCA426124977GTF2A1L,LHCGR,STON1-GTF2A1Lc.1695A>C (p.Thr565=)
c.*7A>C (n.*7A>C)
c.3441+16422T>G (n.3441+16422T>G)
c.*439A>C (n.*439A>C)
c.1614A>C (p.Thr538=)
c.276+16422T>G (n.276+16422T>G)
c.*220+6122A>C (n.*220+6122A>C)
c.738A>C (p.Thr246=)
c.765A>C (p.Thr255=)
c.1620A>C (p.Thr540=)
c.1434A>C (p.Thr478=)
c.1353A>C (p.Thr451=)
c.1059A>C (p.Thr353=)
c.1440A>C (p.Thr480=)
2g.48688102T=CA1248600992GTF2A1L,LHCGR,STON1-GTF2A1Lc.1695A= (p.Thr565=)
c.*7A= (n.*7A=)
c.3441+16422T= (n.3441+16422T=)
c.*439A= (n.*439A=)
c.1614A= (p.Thr538=)
c.276+16422T= (n.276+16422T=)
c.*220+6122A= (n.*220+6122A=)
c.738A= (p.Thr246=)
c.765A= (p.Thr255=)
c.1620A= (p.Thr540=)
c.1434A= (p.Thr478=)
c.1353A= (p.Thr451=)
c.1059A= (p.Thr353=)
c.1440A= (p.Thr480=)
2g.48688103G>ACA346745173GTF2A1L,LHCGR,STON1-GTF2A1Lc.1694C>T (p.Thr565Ile)
c.*6C>T (n.*6C>T)
c.3441+16423G>A (n.3441+16423G>A)
c.*438C>T (n.*438C>T)
c.1613C>T (p.Thr538Ile)
c.276+16423G>A (n.276+16423G>A)
c.*220+6121C>T (n.*220+6121C>T)
c.737C>T (p.Thr246Ile)
c.764C>T (p.Thr255Ile)
c.1619C>T (p.Thr540Ile)
c.1433C>T (p.Thr478Ile)
c.1352C>T (p.Thr451Ile)
c.1058C>T (p.Thr353Ile)
c.1439C>T (p.Thr480Ile)
2g.48688103G>CCA346745177GTF2A1L,LHCGR,STON1-GTF2A1Lc.1694C>G (p.Thr565Arg)
c.*6C>G (n.*6C>G)
c.3441+16423G>C (n.3441+16423G>C)
c.*438C>G (n.*438C>G)
c.1613C>G (p.Thr538Arg)
c.276+16423G>C (n.276+16423G>C)
c.*220+6121C>G (n.*220+6121C>G)
c.737C>G (p.Thr246Arg)
c.764C>G (p.Thr255Arg)
c.1619C>G (p.Thr540Arg)
c.1433C>G (p.Thr478Arg)
c.1352C>G (p.Thr451Arg)
c.1058C>G (p.Thr353Arg)
c.1439C>G (p.Thr480Arg)
 gnomAD v4
2g.48688103G>TCA346745178GTF2A1L,LHCGR,STON1-GTF2A1Lc.1694C>A (p.Thr565Lys)
c.*6C>A (n.*6C>A)
c.3441+16423G>T (n.3441+16423G>T)
c.*438C>A (n.*438C>A)
c.1613C>A (p.Thr538Lys)
c.276+16423G>T (n.276+16423G>T)
c.*220+6121C>A (n.*220+6121C>A)
c.737C>A (p.Thr246Lys)
c.764C>A (p.Thr255Lys)
c.1619C>A (p.Thr540Lys)
c.1433C>A (p.Thr478Lys)
c.1352C>A (p.Thr451Lys)
c.1058C>A (p.Thr353Lys)
c.1439C>A (p.Thr480Lys)
 gnomAD v4
2g.48688104T>ACA346745179GTF2A1L,LHCGR,STON1-GTF2A1Lc.1693A>T (p.Thr565Ser)
c.*5A>T (n.*5A>T)
c.3441+16424T>A (n.3441+16424T>A)
c.*437A>T (n.*437A>T)
c.1612A>T (p.Thr538Ser)
c.276+16424T>A (n.276+16424T>A)
c.*220+6120A>T (n.*220+6120A>T)
c.736A>T (p.Thr246Ser)
c.763A>T (p.Thr255Ser)
c.1618A>T (p.Thr540Ser)
c.1432A>T (p.Thr478Ser)
c.1351A>T (p.Thr451Ser)
c.1057A>T (p.Thr353Ser)
c.1438A>T (p.Thr480Ser)
2g.48688104T>CCA346745180GTF2A1L,LHCGR,STON1-GTF2A1Lc.1693A>G (p.Thr565Ala)
c.*5A>G (n.*5A>G)
c.3441+16424T>C (n.3441+16424T>C)
c.*437A>G (n.*437A>G)
c.1612A>G (p.Thr538Ala)
c.276+16424T>C (n.276+16424T>C)
c.*220+6120A>G (n.*220+6120A>G)
c.736A>G (p.Thr246Ala)
c.763A>G (p.Thr255Ala)
c.1618A>G (p.Thr540Ala)
c.1432A>G (p.Thr478Ala)
c.1351A>G (p.Thr451Ala)
c.1057A>G (p.Thr353Ala)
c.1438A>G (p.Thr480Ala)
2g.48688104T>GCA346745182GTF2A1L,LHCGR,STON1-GTF2A1Lc.1693A>C (p.Thr565Pro)
c.*5A>C (n.*5A>C)
c.3441+16424T>G (n.3441+16424T>G)
c.*437A>C (n.*437A>C)
c.1612A>C (p.Thr538Pro)
c.276+16424T>G (n.276+16424T>G)
c.*220+6120A>C (n.*220+6120A>C)
c.736A>C (p.Thr246Pro)
c.763A>C (p.Thr255Pro)
c.1618A>C (p.Thr540Pro)
c.1432A>C (p.Thr478Pro)
c.1351A>C (p.Thr451Pro)
c.1057A>C (p.Thr353Pro)
c.1438A>C (p.Thr480Pro)
2g.48688105A>CCA346745188GTF2A1L,LHCGR,STON1-GTF2A1Lc.1692T>G (p.Asp564Glu)
c.*4T>G (n.*4T>G)
c.3441+16425A>C (n.3441+16425A>C)
c.*436T>G (n.*436T>G)
c.1611T>G (p.Asp537Glu)
c.276+16425A>C (n.276+16425A>C)
c.*220+6119T>G (n.*220+6119T>G)
c.735T>G (p.Asp245Glu)
c.762T>G (p.Asp254Glu)
c.1617T>G (p.Asp539Glu)
c.1431T>G (p.Asp477Glu)
c.1350T>G (p.Asp450Glu)
c.1056T>G (p.Asp352Glu)
c.1437T>G (p.Asp479Glu)
2g.48688105A>GCA426124981GTF2A1L,LHCGR,STON1-GTF2A1Lc.1692T>C (p.Asp564=)
c.*4T>C (n.*4T>C)
c.3441+16425A>G (n.3441+16425A>G)
c.*436T>C (n.*436T>C)
c.1611T>C (p.Asp537=)
c.276+16425A>G (n.276+16425A>G)
c.*220+6119T>C (n.*220+6119T>C)
c.735T>C (p.Asp245=)
c.762T>C (p.Asp254=)
c.1617T>C (p.Asp539=)
c.1431T>C (p.Asp477=)
c.1350T>C (p.Asp450=)
c.1056T>C (p.Asp352=)
c.1437T>C (p.Asp479=)
 gnomAD v4
2g.48688105A>TCA346745185GTF2A1L,LHCGR,STON1-GTF2A1Lc.1692T>A (p.Asp564Glu)
c.*4T>A (n.*4T>A)
c.3441+16425A>T (n.3441+16425A>T)
c.*436T>A (n.*436T>A)
c.1611T>A (p.Asp537Glu)
c.276+16425A>T (n.276+16425A>T)
c.*220+6119T>A (n.*220+6119T>A)
c.735T>A (p.Asp245Glu)
c.762T>A (p.Asp254Glu)
c.1617T>A (p.Asp539Glu)
c.1431T>A (p.Asp477Glu)
c.1350T>A (p.Asp450Glu)
c.1056T>A (p.Asp352Glu)
c.1437T>A (p.Asp479Glu)
2g.48688106T>ACA346745190GTF2A1L,LHCGR,STON1-GTF2A1Lc.1691A>T (p.Asp564Val)
c.*3A>T (n.*3A>T)
c.3441+16426T>A (n.3441+16426T>A)
c.*435A>T (n.*435A>T)
c.1610A>T (p.Asp537Val)
c.276+16426T>A (n.276+16426T>A)
c.*220+6118A>T (n.*220+6118A>T)
c.734A>T (p.Asp245Val)
c.761A>T (p.Asp254Val)
c.1616A>T (p.Asp539Val)
c.1430A>T (p.Asp477Val)
c.1349A>T (p.Asp450Val)
c.1055A>T (p.Asp352Val)
c.1436A>T (p.Asp479Val)
 ClinVar dbSNP
2g.48688106T>CCA123935GTF2A1L,LHCGR,STON1-GTF2A1Lc.1691A>G (p.Asp564Gly)
c.*3A>G (n.*3A>G)
c.3441+16426T>C (n.3441+16426T>C)
c.*435A>G (n.*435A>G)
c.1610A>G (p.Asp537Gly)
c.276+16426T>C (n.276+16426T>C)
c.*220+6118A>G (n.*220+6118A>G)
c.734A>G (p.Asp245Gly)
c.761A>G (p.Asp254Gly)
c.1616A>G (p.Asp539Gly)
c.1430A>G (p.Asp477Gly)
c.1349A>G (p.Asp450Gly)
c.1055A>G (p.Asp352Gly)
c.1436A>G (p.Asp479Gly)
 ClinVar dbSNP
2g.48688106T>GCA346745191GTF2A1L,LHCGR,STON1-GTF2A1Lc.1691A>C (p.Asp564Ala)
c.*3A>C (n.*3A>C)
c.3441+16426T>G (n.3441+16426T>G)
c.*435A>C (n.*435A>C)
c.1610A>C (p.Asp537Ala)
c.276+16426T>G (n.276+16426T>G)
c.*220+6118A>C (n.*220+6118A>C)
c.734A>C (p.Asp245Ala)
c.761A>C (p.Asp254Ala)
c.1616A>C (p.Asp539Ala)
c.1430A>C (p.Asp477Ala)
c.1349A>C (p.Asp450Ala)
c.1055A>C (p.Asp352Ala)
c.1436A>C (p.Asp479Ala)
2g.48688106T=CA1248600993GTF2A1L,LHCGR,STON1-GTF2A1Lc.1691A= (p.Asp564=)
c.*3A= (n.*3A=)
c.3441+16426T= (n.3441+16426T=)
c.*435A= (n.*435A=)
c.1610A= (p.Asp537=)
c.276+16426T= (n.276+16426T=)
c.*220+6118A= (n.*220+6118A=)
c.734A= (p.Asp245=)
c.761A= (p.Asp254=)
c.1616A= (p.Asp539=)
c.1430A= (p.Asp477=)
c.1349A= (p.Asp450=)
c.1055A= (p.Asp352=)
c.1436A= (p.Asp479=)
2g.48688107C>ACA346745192GTF2A1L,LHCGR,STON1-GTF2A1Lc.1690G>T (p.Asp564Tyr)
c.*2G>T (n.*2G>T)
c.3441+16427C>A (n.3441+16427C>A)
c.*434G>T (n.*434G>T)
c.1609G>T (p.Asp537Tyr)
c.276+16427C>A (n.276+16427C>A)
c.*220+6117G>T (n.*220+6117G>T)
c.733G>T (p.Asp245Tyr)
c.760G>T (p.Asp254Tyr)
c.1615G>T (p.Asp539Tyr)
c.1429G>T (p.Asp477Tyr)
c.1348G>T (p.Asp450Tyr)
c.1054G>T (p.Asp352Tyr)
c.1435G>T (p.Asp479Tyr)
2g.48688107C>GCA346745194GTF2A1L,LHCGR,STON1-GTF2A1Lc.1690G>C (p.Asp564His)
c.*2G>C (n.*2G>C)
c.3441+16427C>G (n.3441+16427C>G)
c.*434G>C (n.*434G>C)
c.1609G>C (p.Asp537His)
c.276+16427C>G (n.276+16427C>G)
c.*220+6117G>C (n.*220+6117G>C)
c.733G>C (p.Asp245His)
c.760G>C (p.Asp254His)
c.1615G>C (p.Asp539His)
c.1429G>C (p.Asp477His)
c.1348G>C (p.Asp450His)
c.1054G>C (p.Asp352His)
c.1435G>C (p.Asp479His)
 gnomAD v4
2g.48688107C>TCA346745198GTF2A1L,LHCGR,STON1-GTF2A1Lc.1690G>A (p.Asp564Asn)
c.*2G>A (n.*2G>A)
c.3441+16427C>T (n.3441+16427C>T)
c.*434G>A (n.*434G>A)
c.1609G>A (p.Asp537Asn)
c.276+16427C>T (n.276+16427C>T)
c.*220+6117G>A (n.*220+6117G>A)
c.733G>A (p.Asp245Asn)
c.760G>A (p.Asp254Asn)
c.1615G>A (p.Asp539Asn)
c.1429G>A (p.Asp477Asn)
c.1348G>A (p.Asp450Asn)
c.1054G>A (p.Asp352Asn)
c.1435G>A (p.Asp479Asn)
 gnomAD v4
2g.48688108T>ACA346745205GTF2A1L,LHCGR,STON1-GTF2A1Lc.1689A>T (p.Lys563Asn)
c.*1A>T (n.*1A>T)
c.3441+16428T>A (n.3441+16428T>A)
c.*433A>T (n.*433A>T)
c.1608A>T (p.Lys536Asn)
c.276+16428T>A (n.276+16428T>A)
c.*220+6116A>T (n.*220+6116A>T)
c.732A>T (p.Lys244Asn)
c.759A>T (p.Lys253Asn)
c.1614A>T (p.Lys538Asn)
c.1428A>T (p.Lys476Asn)
c.1347A>T (p.Lys449Asn)
c.1053A>T (p.Lys351Asn)
c.1434A>T (p.Lys478Asn)
2g.48688108T>CCA1653002GTF2A1L,LHCGR,STON1-GTF2A1Lc.1689A>G (p.Lys563=)
c.*1A>G (n.*1A>G)
c.3441+16428T>C (n.3441+16428T>C)
c.*433A>G (n.*433A>G)
c.1608A>G (p.Lys536=)
c.276+16428T>C (n.276+16428T>C)
c.*220+6116A>G (n.*220+6116A>G)
c.732A>G (p.Lys244=)
c.759A>G (p.Lys253=)
c.1614A>G (p.Lys538=)
c.1428A>G (p.Lys476=)
c.1347A>G (p.Lys449=)
c.1053A>G (p.Lys351=)
c.1434A>G (p.Lys478=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688108T>GCA346745201GTF2A1L,LHCGR,STON1-GTF2A1Lc.1689A>C (p.Lys563Asn)
c.*1A>C (n.*1A>C)
c.3441+16428T>G (n.3441+16428T>G)
c.*433A>C (n.*433A>C)
c.1608A>C (p.Lys536Asn)
c.276+16428T>G (n.276+16428T>G)
c.*220+6116A>C (n.*220+6116A>C)
c.732A>C (p.Lys244Asn)
c.759A>C (p.Lys253Asn)
c.1614A>C (p.Lys538Asn)
c.1428A>C (p.Lys476Asn)
c.1347A>C (p.Lys449Asn)
c.1053A>C (p.Lys351Asn)
c.1434A>C (p.Lys478Asn)
2g.48688108T=CA1248600994GTF2A1L,LHCGR,STON1-GTF2A1Lc.1689A= (p.Lys563=)
c.*1A= (n.*1A=)
c.3441+16428T= (n.3441+16428T=)
c.*433A= (n.*433A=)
c.1608A= (p.Lys536=)
c.276+16428T= (n.276+16428T=)
c.*220+6116A= (n.*220+6116A=)
c.732A= (p.Lys244=)
c.759A= (p.Lys253=)
c.1614A= (p.Lys538=)
c.1428A= (p.Lys476=)
c.1347A= (p.Lys449=)
c.1053A= (p.Lys351=)
c.1434A= (p.Lys478=)
2g.48688109_48688110delCA2658992082GTF2A1L,LHCGR,STON1-GTF2A1Lc.1688_1689del (p.Lys563ArgfsTer6)
c.978_*1del (n.[c.978_*1del;Ter326=])
c.3441+16429_3441+16430del (n.3441+16429_3441+16430del)
c.*432_*433del (n.*432_*433del)
c.1607_1608del (p.Lys536ArgfsTer6)
c.276+16429_276+16430del (n.276+16429_276+16430del)
c.*220+6115_*220+6116del (n.*220+6115_*220+6116del)
c.731_732del (p.Lys244ArgfsTer6)
c.758_759del (p.Lys253ArgfsTer6)
c.1613_1614del (p.Lys538ArgfsTer6)
c.1427_1428del (p.Lys476ArgfsTer6)
c.1346_1347del (p.Lys449ArgfsTer6)
c.1052_1053del (p.Lys351ArgfsTer6)
c.1433_1434del (p.Lys478ArgfsTer6)
 gnomAD v4
2g.48688109T>ACA346745208GTF2A1L,LHCGR,STON1-GTF2A1Lc.1688A>T (p.Lys563Ile)
c.978A>T (p.Ter326Tyr)
c.3441+16429T>A (n.3441+16429T>A)
c.*432A>T (n.*432A>T)
c.1607A>T (p.Lys536Ile)
c.276+16429T>A (n.276+16429T>A)
c.*220+6115A>T (n.*220+6115A>T)
c.731A>T (p.Lys244Ile)
c.758A>T (p.Lys253Ile)
c.1613A>T (p.Lys538Ile)
c.1427A>T (p.Lys476Ile)
c.1346A>T (p.Lys449Ile)
c.1052A>T (p.Lys351Ile)
c.1433A>T (p.Lys478Ile)
2g.48688109T>CCA346745212GTF2A1L,LHCGR,STON1-GTF2A1Lc.1688A>G (p.Lys563Arg)
c.978A>G (p.Ter326=)
c.3441+16429T>C (n.3441+16429T>C)
c.*432A>G (n.*432A>G)
c.1607A>G (p.Lys536Arg)
c.276+16429T>C (n.276+16429T>C)
c.*220+6115A>G (n.*220+6115A>G)
c.731A>G (p.Lys244Arg)
c.758A>G (p.Lys253Arg)
c.1613A>G (p.Lys538Arg)
c.1427A>G (p.Lys476Arg)
c.1346A>G (p.Lys449Arg)
c.1052A>G (p.Lys351Arg)
c.1433A>G (p.Lys478Arg)
2g.48688109T>GCA346745214GTF2A1L,LHCGR,STON1-GTF2A1Lc.1688A>C (p.Lys563Thr)
c.978A>C (p.Ter326Tyr)
c.3441+16429T>G (n.3441+16429T>G)
c.*432A>C (n.*432A>C)
c.1607A>C (p.Lys536Thr)
c.276+16429T>G (n.276+16429T>G)
c.*220+6115A>C (n.*220+6115A>C)
c.731A>C (p.Lys244Thr)
c.758A>C (p.Lys253Thr)
c.1613A>C (p.Lys538Thr)
c.1427A>C (p.Lys476Thr)
c.1346A>C (p.Lys449Thr)
c.1052A>C (p.Lys351Thr)
c.1433A>C (p.Lys478Thr)
2g.48688110T>ACA346745223GTF2A1L,LHCGR,STON1-GTF2A1Lc.1687A>T (p.Lys563Ter)
c.977A>T (p.Ter326Leu)
c.3441+16430T>A (n.3441+16430T>A)
c.*431A>T (n.*431A>T)
c.1606A>T (p.Lys536Ter)
c.276+16430T>A (n.276+16430T>A)
c.*220+6114A>T (n.*220+6114A>T)
c.730A>T (p.Lys244Ter)
c.757A>T (p.Lys253Ter)
c.1612A>T (p.Lys538Ter)
c.1426A>T (p.Lys476Ter)
c.1345A>T (p.Lys449Ter)
c.1051A>T (p.Lys351Ter)
c.1432A>T (p.Lys478Ter)
2g.48688110T>CCA346745232GTF2A1L,LHCGR,STON1-GTF2A1Lc.1687A>G (p.Lys563Glu)
c.977A>G (p.Ter326=)
c.3441+16430T>C (n.3441+16430T>C)
c.*431A>G (n.*431A>G)
c.1606A>G (p.Lys536Glu)
c.276+16430T>C (n.276+16430T>C)
c.*220+6114A>G (n.*220+6114A>G)
c.730A>G (p.Lys244Glu)
c.757A>G (p.Lys253Glu)
c.1612A>G (p.Lys538Glu)
c.1426A>G (p.Lys476Glu)
c.1345A>G (p.Lys449Glu)
c.1051A>G (p.Lys351Glu)
c.1432A>G (p.Lys478Glu)
2g.48688110T>GCA346745234GTF2A1L,LHCGR,STON1-GTF2A1Lc.1687A>C (p.Lys563Gln)
c.977A>C (p.Ter326Ser)
c.3441+16430T>G (n.3441+16430T>G)
c.*431A>C (n.*431A>C)
c.1606A>C (p.Lys536Gln)
c.276+16430T>G (n.276+16430T>G)
c.*220+6114A>C (n.*220+6114A>C)
c.730A>C (p.Lys244Gln)
c.757A>C (p.Lys253Gln)
c.1612A>C (p.Lys538Gln)
c.1426A>C (p.Lys476Gln)
c.1345A>C (p.Lys449Gln)
c.1051A>C (p.Lys351Gln)
c.1432A>C (p.Lys478Gln)
2g.48688111A>CCA346745241GTF2A1L,LHCGR,STON1-GTF2A1Lc.1686T>G (p.Asn562Lys)
c.976T>G (p.Ter326Glu)
c.3441+16431A>C (n.3441+16431A>C)
c.*430T>G (n.*430T>G)
c.1605T>G (p.Asn535Lys)
c.276+16431A>C (n.276+16431A>C)
c.*220+6113T>G (n.*220+6113T>G)
c.729T>G (p.Asn243Lys)
c.756T>G (p.Asn252Lys)
c.1611T>G (p.Asn537Lys)
c.1425T>G (p.Asn475Lys)
c.1344T>G (p.Asn448Lys)
c.1050T>G (p.Asn350Lys)
c.1431T>G (p.Asn477Lys)
2g.48688111A>GCA346745251GTF2A1L,LHCGR,STON1-GTF2A1Lc.1686T>C (p.Asn562=)
c.976T>C (p.Ter326Gln)
c.3441+16431A>G (n.3441+16431A>G)
c.*430T>C (n.*430T>C)
c.1605T>C (p.Asn535=)
c.276+16431A>G (n.276+16431A>G)
c.*220+6113T>C (n.*220+6113T>C)
c.729T>C (p.Asn243=)
c.756T>C (p.Asn252=)
c.1611T>C (p.Asn537=)
c.1425T>C (p.Asn475=)
c.1344T>C (p.Asn448=)
c.1050T>C (p.Asn350=)
c.1431T>C (p.Asn477=)
2g.48688111A>TCA346745247GTF2A1L,LHCGR,STON1-GTF2A1Lc.1686T>A (p.Asn562Lys)
c.976T>A (p.Ter326Lys)
c.3441+16431A>T (n.3441+16431A>T)
c.*430T>A (n.*430T>A)
c.1605T>A (p.Asn535Lys)
c.276+16431A>T (n.276+16431A>T)
c.*220+6113T>A (n.*220+6113T>A)
c.729T>A (p.Asn243Lys)
c.756T>A (p.Asn252Lys)
c.1611T>A (p.Asn537Lys)
c.1425T>A (p.Asn475Lys)
c.1344T>A (p.Asn448Lys)
c.1050T>A (p.Asn350Lys)
c.1431T>A (p.Asn477Lys)
2g.48688112T>ACA346745252GTF2A1L,LHCGR,STON1-GTF2A1Lc.1685A>T (p.Asn562Ile)
c.975A>T (p.Gln325His)
c.3441+16432T>A (n.3441+16432T>A)
c.*429A>T (n.*429A>T)
c.1604A>T (p.Asn535Ile)
c.276+16432T>A (n.276+16432T>A)
c.*220+6112A>T (n.*220+6112A>T)
c.728A>T (p.Asn243Ile)
c.755A>T (p.Asn252Ile)
c.1610A>T (p.Asn537Ile)
c.1424A>T (p.Asn475Ile)
c.1343A>T (p.Asn448Ile)
c.1049A>T (p.Asn350Ile)
c.1430A>T (p.Asn477Ile)
2g.48688112T>CCA346745253GTF2A1L,LHCGR,STON1-GTF2A1Lc.1685A>G (p.Asn562Ser)
c.975A>G (p.Gln325=)
c.3441+16432T>C (n.3441+16432T>C)
c.*429A>G (n.*429A>G)
c.1604A>G (p.Asn535Ser)
c.276+16432T>C (n.276+16432T>C)
c.*220+6112A>G (n.*220+6112A>G)
c.728A>G (p.Asn243Ser)
c.755A>G (p.Asn252Ser)
c.1610A>G (p.Asn537Ser)
c.1424A>G (p.Asn475Ser)
c.1343A>G (p.Asn448Ser)
c.1049A>G (p.Asn350Ser)
c.1430A>G (p.Asn477Ser)
2g.48688112T>GCA346745254GTF2A1L,LHCGR,STON1-GTF2A1Lc.1685A>C (p.Asn562Thr)
c.975A>C (p.Gln325His)
c.3441+16432T>G (n.3441+16432T>G)
c.*429A>C (n.*429A>C)
c.1604A>C (p.Asn535Thr)
c.276+16432T>G (n.276+16432T>G)
c.*220+6112A>C (n.*220+6112A>C)
c.728A>C (p.Asn243Thr)
c.755A>C (p.Asn252Thr)
c.1610A>C (p.Asn537Thr)
c.1424A>C (p.Asn475Thr)
c.1343A>C (p.Asn448Thr)
c.1049A>C (p.Asn350Thr)
c.1430A>C (p.Asn477Thr)
2g.48688113T>ACA346745258GTF2A1L,LHCGR,STON1-GTF2A1Lc.1684A>T (p.Asn562Tyr)
c.974A>T (p.Gln325Leu)
c.3441+16433T>A (n.3441+16433T>A)
c.*428A>T (n.*428A>T)
c.1603A>T (p.Asn535Tyr)
c.276+16433T>A (n.276+16433T>A)
c.*220+6111A>T (n.*220+6111A>T)
c.727A>T (p.Asn243Tyr)
c.754A>T (p.Asn252Tyr)
c.1609A>T (p.Asn537Tyr)
c.1423A>T (p.Asn475Tyr)
c.1342A>T (p.Asn448Tyr)
c.1048A>T (p.Asn350Tyr)
c.1429A>T (p.Asn477Tyr)
2g.48688113T>CCA346745259GTF2A1L,LHCGR,STON1-GTF2A1Lc.1684A>G (p.Asn562Asp)
c.974A>G (p.Gln325Arg)
c.3441+16433T>C (n.3441+16433T>C)
c.*428A>G (n.*428A>G)
c.1603A>G (p.Asn535Asp)
c.276+16433T>C (n.276+16433T>C)
c.*220+6111A>G (n.*220+6111A>G)
c.727A>G (p.Asn243Asp)
c.754A>G (p.Asn252Asp)
c.1609A>G (p.Asn537Asp)
c.1423A>G (p.Asn475Asp)
c.1342A>G (p.Asn448Asp)
c.1048A>G (p.Asn350Asp)
c.1429A>G (p.Asn477Asp)
2g.48688113T>GCA346745260GTF2A1L,LHCGR,STON1-GTF2A1Lc.1684A>C (p.Asn562His)
c.974A>C (p.Gln325Pro)
c.3441+16433T>G (n.3441+16433T>G)
c.*428A>C (n.*428A>C)
c.1603A>C (p.Asn535His)
c.276+16433T>G (n.276+16433T>G)
c.*220+6111A>C (n.*220+6111A>C)
c.727A>C (p.Asn243His)
c.754A>C (p.Asn252His)
c.1609A>C (p.Asn537His)
c.1423A>C (p.Asn475His)
c.1342A>C (p.Asn448His)
c.1048A>C (p.Asn350His)
c.1429A>C (p.Asn477His)
2g.48688114G>ACA346745263GTF2A1L,LHCGR,STON1-GTF2A1Lc.1683C>T (p.Thr561=)
c.973C>T (p.Gln325Ter)
c.3441+16434G>A (n.3441+16434G>A)
c.*427C>T (n.*427C>T)
c.1602C>T (p.Thr534=)
c.276+16434G>A (n.276+16434G>A)
c.*220+6110C>T (n.*220+6110C>T)
c.726C>T (p.Thr242=)
c.753C>T (p.Thr251=)
c.1608C>T (p.Thr536=)
c.1422C>T (p.Thr474=)
c.1341C>T (p.Thr447=)
c.1047C>T (p.Thr349=)
c.1428C>T (p.Thr476=)
2g.48688114G>CCA346745264GTF2A1L,LHCGR,STON1-GTF2A1Lc.1683C>G (p.Thr561=)
c.973C>G (p.Gln325Glu)
c.3441+16434G>C (n.3441+16434G>C)
c.*427C>G (n.*427C>G)
c.1602C>G (p.Thr534=)
c.276+16434G>C (n.276+16434G>C)
c.*220+6110C>G (n.*220+6110C>G)
c.726C>G (p.Thr242=)
c.753C>G (p.Thr251=)
c.1608C>G (p.Thr536=)
c.1422C>G (p.Thr474=)
c.1341C>G (p.Thr447=)
c.1047C>G (p.Thr349=)
c.1428C>G (p.Thr476=)
2g.48688114G>TCA346745265GTF2A1L,LHCGR,STON1-GTF2A1Lc.1683C>A (p.Thr561=)
c.973C>A (p.Gln325Lys)
c.3441+16434G>T (n.3441+16434G>T)
c.*427C>A (n.*427C>A)
c.1602C>A (p.Thr534=)
c.276+16434G>T (n.276+16434G>T)
c.*220+6110C>A (n.*220+6110C>A)
c.726C>A (p.Thr242=)
c.753C>A (p.Thr251=)
c.1608C>A (p.Thr536=)
c.1422C>A (p.Thr474=)
c.1341C>A (p.Thr447=)
c.1047C>A (p.Thr349=)
c.1428C>A (p.Thr476=)
 gnomAD v4
2g.48688115G>ACA346745266GTF2A1L,LHCGR,STON1-GTF2A1Lc.1682C>T (p.Thr561Ile)
c.972C>T (p.Tyr324=)
c.3441+16435G>A (n.3441+16435G>A)
c.*426C>T (n.*426C>T)
c.1601C>T (p.Thr534Ile)
c.276+16435G>A (n.276+16435G>A)
c.*220+6109C>T (n.*220+6109C>T)
c.725C>T (p.Thr242Ile)
c.752C>T (p.Thr251Ile)
c.1607C>T (p.Thr536Ile)
c.1421C>T (p.Thr474Ile)
c.1340C>T (p.Thr447Ile)
c.1046C>T (p.Thr349Ile)
c.1427C>T (p.Thr476Ile)
 gnomAD v4
2g.48688115G>CCA346745267GTF2A1L,LHCGR,STON1-GTF2A1Lc.1682C>G (p.Thr561Ser)
c.972C>G (p.Tyr324Ter)
c.3441+16435G>C (n.3441+16435G>C)
c.*426C>G (n.*426C>G)
c.1601C>G (p.Thr534Ser)
c.276+16435G>C (n.276+16435G>C)
c.*220+6109C>G (n.*220+6109C>G)
c.725C>G (p.Thr242Ser)
c.752C>G (p.Thr251Ser)
c.1607C>G (p.Thr536Ser)
c.1421C>G (p.Thr474Ser)
c.1340C>G (p.Thr447Ser)
c.1046C>G (p.Thr349Ser)
c.1427C>G (p.Thr476Ser)
2g.48688115G=CA1248600995GTF2A1L,LHCGR,STON1-GTF2A1Lc.1682C= (p.Thr561=)
c.972C= (p.Tyr324=)
c.3441+16435G= (n.3441+16435G=)
c.*426C= (n.*426C=)
c.1601C= (p.Thr534=)
c.276+16435G= (n.276+16435G=)
c.*220+6109C= (n.*220+6109C=)
c.725C= (p.Thr242=)
c.752C= (p.Thr251=)
c.1607C= (p.Thr536=)
c.1421C= (p.Thr474=)
c.1340C= (p.Thr447=)
c.1046C= (p.Thr349=)
c.1427C= (p.Thr476=)
2g.48688115G>TCA346745268GTF2A1L,LHCGR,STON1-GTF2A1Lc.1682C>A (p.Thr561Asn)
c.972C>A (p.Tyr324Ter)
c.3441+16435G>T (n.3441+16435G>T)
c.*426C>A (n.*426C>A)
c.1601C>A (p.Thr534Asn)
c.276+16435G>T (n.276+16435G>T)
c.*220+6109C>A (n.*220+6109C>A)
c.725C>A (p.Thr242Asn)
c.752C>A (p.Thr251Asn)
c.1607C>A (p.Thr536Asn)
c.1421C>A (p.Thr474Asn)
c.1340C>A (p.Thr447Asn)
c.1046C>A (p.Thr349Asn)
c.1427C>A (p.Thr476Asn)
 dbSNP

Number of alleles fetched