Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48688234G>ACA426125411GTF2A1L,LHCGR,STON1-GTF2A1Lc.1563C>T (p.Thr521=)
c.948-95C>T (n.948-95C>T)
c.3441+16554G>A (n.3441+16554G>A)
c.*307C>T (n.*307C>T)
c.1482C>T (p.Thr494=)
c.276+16554G>A (n.276+16554G>A)
c.*220+5990C>T (n.*220+5990C>T)
c.606C>T (p.Thr202=)
c.633C>T (p.Thr211=)
c.1488C>T (p.Thr496=)
c.1302C>T (p.Thr434=)
c.1221C>T (p.Thr407=)
c.927C>T (p.Thr309=)
c.1308C>T (p.Thr436=)
 dbSNP gnomAD v2 gnomAD v4
2g.48688234G>CCA426125414GTF2A1L,LHCGR,STON1-GTF2A1Lc.1563C>G (p.Thr521=)
c.948-95C>G (n.948-95C>G)
c.3441+16554G>C (n.3441+16554G>C)
c.*307C>G (n.*307C>G)
c.1482C>G (p.Thr494=)
c.276+16554G>C (n.276+16554G>C)
c.*220+5990C>G (n.*220+5990C>G)
c.606C>G (p.Thr202=)
c.633C>G (p.Thr211=)
c.1488C>G (p.Thr496=)
c.1302C>G (p.Thr434=)
c.1221C>G (p.Thr407=)
c.927C>G (p.Thr309=)
c.1308C>G (p.Thr436=)
2g.48688234G=CA1248601043GTF2A1L,LHCGR,STON1-GTF2A1Lc.1563C= (p.Thr521=)
c.948-95C= (n.948-95C=)
c.3441+16554G= (n.3441+16554G=)
c.*307C= (n.*307C=)
c.1482C= (p.Thr494=)
c.276+16554G= (n.276+16554G=)
c.*220+5990C= (n.*220+5990C=)
c.606C= (p.Thr202=)
c.633C= (p.Thr211=)
c.1488C= (p.Thr496=)
c.1302C= (p.Thr434=)
c.1221C= (p.Thr407=)
c.927C= (p.Thr309=)
c.1308C= (p.Thr436=)
2g.48688234G>TCA426125416GTF2A1L,LHCGR,STON1-GTF2A1Lc.1563C>A (p.Thr521=)
c.948-95C>A (n.948-95C>A)
c.3441+16554G>T (n.3441+16554G>T)
c.*307C>A (n.*307C>A)
c.1482C>A (p.Thr494=)
c.276+16554G>T (n.276+16554G>T)
c.*220+5990C>A (n.*220+5990C>A)
c.606C>A (p.Thr202=)
c.633C>A (p.Thr211=)
c.1488C>A (p.Thr496=)
c.1302C>A (p.Thr434=)
c.1221C>A (p.Thr407=)
c.927C>A (p.Thr309=)
c.1308C>A (p.Thr436=)
2g.48688235G>ACA346746205GTF2A1L,LHCGR,STON1-GTF2A1Lc.1562C>T (p.Thr521Ile)
c.948-96C>T (n.948-96C>T)
c.3441+16555G>A (n.3441+16555G>A)
c.*306C>T (n.*306C>T)
c.1481C>T (p.Thr494Ile)
c.276+16555G>A (n.276+16555G>A)
c.*220+5989C>T (n.*220+5989C>T)
c.605C>T (p.Thr202Ile)
c.632C>T (p.Thr211Ile)
c.1487C>T (p.Thr496Ile)
c.1301C>T (p.Thr434Ile)
c.1220C>T (p.Thr407Ile)
c.926C>T (p.Thr309Ile)
c.1307C>T (p.Thr436Ile)
2g.48688235G>CCA346746207GTF2A1L,LHCGR,STON1-GTF2A1Lc.1562C>G (p.Thr521Ser)
c.948-96C>G (n.948-96C>G)
c.3441+16555G>C (n.3441+16555G>C)
c.*306C>G (n.*306C>G)
c.1481C>G (p.Thr494Ser)
c.276+16555G>C (n.276+16555G>C)
c.*220+5989C>G (n.*220+5989C>G)
c.605C>G (p.Thr202Ser)
c.632C>G (p.Thr211Ser)
c.1487C>G (p.Thr496Ser)
c.1301C>G (p.Thr434Ser)
c.1220C>G (p.Thr407Ser)
c.926C>G (p.Thr309Ser)
c.1307C>G (p.Thr436Ser)
2g.48688235G=CA1248601044GTF2A1L,LHCGR,STON1-GTF2A1Lc.1562C= (p.Thr521=)
c.948-96C= (n.948-96C=)
c.3441+16555G= (n.3441+16555G=)
c.*306C= (n.*306C=)
c.1481C= (p.Thr494=)
c.276+16555G= (n.276+16555G=)
c.*220+5989C= (n.*220+5989C=)
c.605C= (p.Thr202=)
c.632C= (p.Thr211=)
c.1487C= (p.Thr496=)
c.1301C= (p.Thr434=)
c.1220C= (p.Thr407=)
c.926C= (p.Thr309=)
c.1307C= (p.Thr436=)
2g.48688235G>TCA346746220GTF2A1L,LHCGR,STON1-GTF2A1Lc.1562C>A (p.Thr521Asn)
c.948-96C>A (n.948-96C>A)
c.3441+16555G>T (n.3441+16555G>T)
c.*306C>A (n.*306C>A)
c.1481C>A (p.Thr494Asn)
c.276+16555G>T (n.276+16555G>T)
c.*220+5989C>A (n.*220+5989C>A)
c.605C>A (p.Thr202Asn)
c.632C>A (p.Thr211Asn)
c.1487C>A (p.Thr496Asn)
c.1301C>A (p.Thr434Asn)
c.1220C>A (p.Thr407Asn)
c.926C>A (p.Thr309Asn)
c.1307C>A (p.Thr436Asn)
 dbSNP COSMIC
2g.48688236T>ACA346746223GTF2A1L,LHCGR,STON1-GTF2A1Lc.1561A>T (p.Thr521Ser)
c.948-97A>T (n.948-97A>T)
c.3441+16556T>A (n.3441+16556T>A)
c.*305A>T (n.*305A>T)
c.1480A>T (p.Thr494Ser)
c.276+16556T>A (n.276+16556T>A)
c.*220+5988A>T (n.*220+5988A>T)
c.604A>T (p.Thr202Ser)
c.631A>T (p.Thr211Ser)
c.1486A>T (p.Thr496Ser)
c.1300A>T (p.Thr434Ser)
c.1219A>T (p.Thr407Ser)
c.925A>T (p.Thr309Ser)
c.1306A>T (p.Thr436Ser)
2g.48688236T>CCA346746227GTF2A1L,LHCGR,STON1-GTF2A1Lc.1561A>G (p.Thr521Ala)
c.948-97A>G (n.948-97A>G)
c.3441+16556T>C (n.3441+16556T>C)
c.*305A>G (n.*305A>G)
c.1480A>G (p.Thr494Ala)
c.276+16556T>C (n.276+16556T>C)
c.*220+5988A>G (n.*220+5988A>G)
c.604A>G (p.Thr202Ala)
c.631A>G (p.Thr211Ala)
c.1486A>G (p.Thr496Ala)
c.1300A>G (p.Thr434Ala)
c.1219A>G (p.Thr407Ala)
c.925A>G (p.Thr309Ala)
c.1306A>G (p.Thr436Ala)
 gnomAD v4
2g.48688236T>GCA346746230GTF2A1L,LHCGR,STON1-GTF2A1Lc.1561A>C (p.Thr521Pro)
c.948-97A>C (n.948-97A>C)
c.3441+16556T>G (n.3441+16556T>G)
c.*305A>C (n.*305A>C)
c.1480A>C (p.Thr494Pro)
c.276+16556T>G (n.276+16556T>G)
c.*220+5988A>C (n.*220+5988A>C)
c.604A>C (p.Thr202Pro)
c.631A>C (p.Thr211Pro)
c.1486A>C (p.Thr496Pro)
c.1300A>C (p.Thr434Pro)
c.1219A>C (p.Thr407Pro)
c.925A>C (p.Thr309Pro)
c.1306A>C (p.Thr436Pro)
 gnomAD v3 gnomAD v4
2g.48688237T>ACA346746234GTF2A1L,LHCGR,STON1-GTF2A1Lc.1560A>T (p.Glu520Asp)
c.948-98A>T (n.948-98A>T)
c.3441+16557T>A (n.3441+16557T>A)
c.*304A>T (n.*304A>T)
c.1479A>T (p.Glu493Asp)
c.276+16557T>A (n.276+16557T>A)
c.*220+5987A>T (n.*220+5987A>T)
c.603A>T (p.Glu201Asp)
c.630A>T (p.Glu210Asp)
c.1485A>T (p.Glu495Asp)
c.1299A>T (p.Glu433Asp)
c.1218A>T (p.Glu406Asp)
c.924A>T (p.Glu308Asp)
c.1305A>T (p.Glu435Asp)
2g.48688237T>CCA426125421GTF2A1L,LHCGR,STON1-GTF2A1Lc.1560A>G (p.Glu520=)
c.948-98A>G (n.948-98A>G)
c.3441+16557T>C (n.3441+16557T>C)
c.*304A>G (n.*304A>G)
c.1479A>G (p.Glu493=)
c.276+16557T>C (n.276+16557T>C)
c.*220+5987A>G (n.*220+5987A>G)
c.603A>G (p.Glu201=)
c.630A>G (p.Glu210=)
c.1485A>G (p.Glu495=)
c.1299A>G (p.Glu433=)
c.1218A>G (p.Glu406=)
c.924A>G (p.Glu308=)
c.1305A>G (p.Glu435=)
2g.48688237T>GCA346746231GTF2A1L,LHCGR,STON1-GTF2A1Lc.1560A>C (p.Glu520Asp)
c.948-98A>C (n.948-98A>C)
c.3441+16557T>G (n.3441+16557T>G)
c.*304A>C (n.*304A>C)
c.1479A>C (p.Glu493Asp)
c.276+16557T>G (n.276+16557T>G)
c.*220+5987A>C (n.*220+5987A>C)
c.603A>C (p.Glu201Asp)
c.630A>C (p.Glu210Asp)
c.1485A>C (p.Glu495Asp)
c.1299A>C (p.Glu433Asp)
c.1218A>C (p.Glu406Asp)
c.924A>C (p.Glu308Asp)
c.1305A>C (p.Glu435Asp)
 gnomAD v4
2g.48688238T>ACA346746238GTF2A1L,LHCGR,STON1-GTF2A1Lc.1559A>T (p.Glu520Val)
c.948-99A>T (n.948-99A>T)
c.3441+16558T>A (n.3441+16558T>A)
c.*303A>T (n.*303A>T)
c.1478A>T (p.Glu493Val)
c.276+16558T>A (n.276+16558T>A)
c.*220+5986A>T (n.*220+5986A>T)
c.602A>T (p.Glu201Val)
c.629A>T (p.Glu210Val)
c.1484A>T (p.Glu495Val)
c.1298A>T (p.Glu433Val)
c.1217A>T (p.Glu406Val)
c.923A>T (p.Glu308Val)
c.1304A>T (p.Glu435Val)
2g.48688238T>CCA346746241GTF2A1L,LHCGR,STON1-GTF2A1Lc.1559A>G (p.Glu520Gly)
c.948-99A>G (n.948-99A>G)
c.3441+16558T>C (n.3441+16558T>C)
c.*303A>G (n.*303A>G)
c.1478A>G (p.Glu493Gly)
c.276+16558T>C (n.276+16558T>C)
c.*220+5986A>G (n.*220+5986A>G)
c.602A>G (p.Glu201Gly)
c.629A>G (p.Glu210Gly)
c.1484A>G (p.Glu495Gly)
c.1298A>G (p.Glu433Gly)
c.1217A>G (p.Glu406Gly)
c.923A>G (p.Glu308Gly)
c.1304A>G (p.Glu435Gly)
2g.48688238T>GCA346746244GTF2A1L,LHCGR,STON1-GTF2A1Lc.1559A>C (p.Glu520Ala)
c.948-99A>C (n.948-99A>C)
c.3441+16558T>G (n.3441+16558T>G)
c.*303A>C (n.*303A>C)
c.1478A>C (p.Glu493Ala)
c.276+16558T>G (n.276+16558T>G)
c.*220+5986A>C (n.*220+5986A>C)
c.602A>C (p.Glu201Ala)
c.629A>C (p.Glu210Ala)
c.1484A>C (p.Glu495Ala)
c.1298A>C (p.Glu433Ala)
c.1217A>C (p.Glu406Ala)
c.923A>C (p.Glu308Ala)
c.1304A>C (p.Glu435Ala)
2g.48688239C>ACA346746248GTF2A1L,LHCGR,STON1-GTF2A1Lc.1558G>T (p.Glu520Ter)
c.948-100G>T (n.948-100G>T)
c.3441+16559C>A (n.3441+16559C>A)
c.*302G>T (n.*302G>T)
c.1477G>T (p.Glu493Ter)
c.276+16559C>A (n.276+16559C>A)
c.*220+5985G>T (n.*220+5985G>T)
c.601G>T (p.Glu201Ter)
c.628G>T (p.Glu210Ter)
c.1483G>T (p.Glu495Ter)
c.1297G>T (p.Glu433Ter)
c.1216G>T (p.Glu406Ter)
c.922G>T (p.Glu308Ter)
c.1303G>T (p.Glu435Ter)
2g.48688239C>GCA346746251GTF2A1L,LHCGR,STON1-GTF2A1Lc.1558G>C (p.Glu520Gln)
c.948-100G>C (n.948-100G>C)
c.3441+16559C>G (n.3441+16559C>G)
c.*302G>C (n.*302G>C)
c.1477G>C (p.Glu493Gln)
c.276+16559C>G (n.276+16559C>G)
c.*220+5985G>C (n.*220+5985G>C)
c.601G>C (p.Glu201Gln)
c.628G>C (p.Glu210Gln)
c.1483G>C (p.Glu495Gln)
c.1297G>C (p.Glu433Gln)
c.1216G>C (p.Glu406Gln)
c.922G>C (p.Glu308Gln)
c.1303G>C (p.Glu435Gln)
 gnomAD v4
2g.48688239C>TCA346746252GTF2A1L,LHCGR,STON1-GTF2A1Lc.1558G>A (p.Glu520Lys)
c.948-100G>A (n.948-100G>A)
c.3441+16559C>T (n.3441+16559C>T)
c.*302G>A (n.*302G>A)
c.1477G>A (p.Glu493Lys)
c.276+16559C>T (n.276+16559C>T)
c.*220+5985G>A (n.*220+5985G>A)
c.601G>A (p.Glu201Lys)
c.628G>A (p.Glu210Lys)
c.1483G>A (p.Glu495Lys)
c.1297G>A (p.Glu433Lys)
c.1216G>A (p.Glu406Lys)
c.922G>A (p.Glu308Lys)
c.1303G>A (p.Glu435Lys)
2g.48688240C>ACA426125431GTF2A1L,LHCGR,STON1-GTF2A1Lc.1557G>T (p.Val519=)
c.948-101G>T (n.948-101G>T)
c.3441+16560C>A (n.3441+16560C>A)
c.*301G>T (n.*301G>T)
c.1476G>T (p.Val492=)
c.276+16560C>A (n.276+16560C>A)
c.*220+5984G>T (n.*220+5984G>T)
c.600G>T (p.Val200=)
c.627G>T (p.Val209=)
c.1482G>T (p.Val494=)
c.1296G>T (p.Val432=)
c.1215G>T (p.Val405=)
c.921G>T (p.Val307=)
c.1302G>T (p.Val434=)
2g.48688240C=CA1248601045GTF2A1L,LHCGR,STON1-GTF2A1Lc.1557G= (p.Val519=)
c.948-101G= (n.948-101G=)
c.3441+16560C= (n.3441+16560C=)
c.*301G= (n.*301G=)
c.1476G= (p.Val492=)
c.276+16560C= (n.276+16560C=)
c.*220+5984G= (n.*220+5984G=)
c.600G= (p.Val200=)
c.627G= (p.Val209=)
c.1482G= (p.Val494=)
c.1296G= (p.Val432=)
c.1215G= (p.Val405=)
c.921G= (p.Val307=)
c.1302G= (p.Val434=)
2g.48688240C>GCA426125432GTF2A1L,LHCGR,STON1-GTF2A1Lc.1557G>C (p.Val519=)
c.948-101G>C (n.948-101G>C)
c.3441+16560C>G (n.3441+16560C>G)
c.*301G>C (n.*301G>C)
c.1476G>C (p.Val492=)
c.276+16560C>G (n.276+16560C>G)
c.*220+5984G>C (n.*220+5984G>C)
c.600G>C (p.Val200=)
c.627G>C (p.Val209=)
c.1482G>C (p.Val494=)
c.1296G>C (p.Val432=)
c.1215G>C (p.Val405=)
c.921G>C (p.Val307=)
c.1302G>C (p.Val434=)
2g.48688240C>TCA46752909GTF2A1L,LHCGR,STON1-GTF2A1Lc.1557G>A (p.Val519=)
c.948-101G>A (n.948-101G>A)
c.3441+16560C>T (n.3441+16560C>T)
c.*301G>A (n.*301G>A)
c.1476G>A (p.Val492=)
c.276+16560C>T (n.276+16560C>T)
c.*220+5984G>A (n.*220+5984G>A)
c.600G>A (p.Val200=)
c.627G>A (p.Val209=)
c.1482G>A (p.Val494=)
c.1296G>A (p.Val432=)
c.1215G>A (p.Val405=)
c.921G>A (p.Val307=)
c.1302G>A (p.Val434=)
 dbSNP
2g.48688241A=CA1248601046GTF2A1L,LHCGR,STON1-GTF2A1Lc.1556T= (p.Val519=)
c.948-102T= (n.948-102T=)
c.3441+16561A= (n.3441+16561A=)
c.*300T= (n.*300T=)
c.1475T= (p.Val492=)
c.276+16561A= (n.276+16561A=)
c.*220+5983T= (n.*220+5983T=)
c.599T= (p.Val200=)
c.626T= (p.Val209=)
c.1481T= (p.Val494=)
c.1295T= (p.Val432=)
c.1214T= (p.Val405=)
c.920T= (p.Val307=)
c.1301T= (p.Val434=)
2g.48688241A>CCA346746270GTF2A1L,LHCGR,STON1-GTF2A1Lc.1556T>G (p.Val519Gly)
c.948-102T>G (n.948-102T>G)
c.3441+16561A>C (n.3441+16561A>C)
c.*300T>G (n.*300T>G)
c.1475T>G (p.Val492Gly)
c.276+16561A>C (n.276+16561A>C)
c.*220+5983T>G (n.*220+5983T>G)
c.599T>G (p.Val200Gly)
c.626T>G (p.Val209Gly)
c.1481T>G (p.Val494Gly)
c.1295T>G (p.Val432Gly)
c.1214T>G (p.Val405Gly)
c.920T>G (p.Val307Gly)
c.1301T>G (p.Val434Gly)
2g.48688241A>GCA346746276GTF2A1L,LHCGR,STON1-GTF2A1Lc.1556T>C (p.Val519Ala)
c.948-102T>C (n.948-102T>C)
c.3441+16561A>G (n.3441+16561A>G)
c.*300T>C (n.*300T>C)
c.1475T>C (p.Val492Ala)
c.276+16561A>G (n.276+16561A>G)
c.*220+5983T>C (n.*220+5983T>C)
c.599T>C (p.Val200Ala)
c.626T>C (p.Val209Ala)
c.1481T>C (p.Val494Ala)
c.1295T>C (p.Val432Ala)
c.1214T>C (p.Val405Ala)
c.920T>C (p.Val307Ala)
c.1301T>C (p.Val434Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688241A>TCA346746279GTF2A1L,LHCGR,STON1-GTF2A1Lc.1556T>A (p.Val519Glu)
c.948-102T>A (n.948-102T>A)
c.3441+16561A>T (n.3441+16561A>T)
c.*300T>A (n.*300T>A)
c.1475T>A (p.Val492Glu)
c.276+16561A>T (n.276+16561A>T)
c.*220+5983T>A (n.*220+5983T>A)
c.599T>A (p.Val200Glu)
c.626T>A (p.Val209Glu)
c.1481T>A (p.Val494Glu)
c.1295T>A (p.Val432Glu)
c.1214T>A (p.Val405Glu)
c.920T>A (p.Val307Glu)
c.1301T>A (p.Val434Glu)
2g.48688242C>ACA346746282GTF2A1L,LHCGR,STON1-GTF2A1Lc.1555G>T (p.Val519Leu)
c.948-103G>T (n.948-103G>T)
c.3441+16562C>A (n.3441+16562C>A)
c.*299G>T (n.*299G>T)
c.1474G>T (p.Val492Leu)
c.276+16562C>A (n.276+16562C>A)
c.*220+5982G>T (n.*220+5982G>T)
c.598G>T (p.Val200Leu)
c.625G>T (p.Val209Leu)
c.1480G>T (p.Val494Leu)
c.1294G>T (p.Val432Leu)
c.1213G>T (p.Val405Leu)
c.919G>T (p.Val307Leu)
c.1300G>T (p.Val434Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.48688242C=CA1248601047GTF2A1L,LHCGR,STON1-GTF2A1Lc.1555G= (p.Val519=)
c.948-103G= (n.948-103G=)
c.3441+16562C= (n.3441+16562C=)
c.*299G= (n.*299G=)
c.1474G= (p.Val492=)
c.276+16562C= (n.276+16562C=)
c.*220+5982G= (n.*220+5982G=)
c.598G= (p.Val200=)
c.625G= (p.Val209=)
c.1480G= (p.Val494=)
c.1294G= (p.Val432=)
c.1213G= (p.Val405=)
c.919G= (p.Val307=)
c.1300G= (p.Val434=)
2g.48688242C>GCA346746284GTF2A1L,LHCGR,STON1-GTF2A1Lc.1555G>C (p.Val519Leu)
c.948-103G>C (n.948-103G>C)
c.3441+16562C>G (n.3441+16562C>G)
c.*299G>C (n.*299G>C)
c.1474G>C (p.Val492Leu)
c.276+16562C>G (n.276+16562C>G)
c.*220+5982G>C (n.*220+5982G>C)
c.598G>C (p.Val200Leu)
c.625G>C (p.Val209Leu)
c.1480G>C (p.Val494Leu)
c.1294G>C (p.Val432Leu)
c.1213G>C (p.Val405Leu)
c.919G>C (p.Val307Leu)
c.1300G>C (p.Val434Leu)
2g.48688242C>TCA346746287GTF2A1L,LHCGR,STON1-GTF2A1Lc.1555G>A (p.Val519Met)
c.948-103G>A (n.948-103G>A)
c.3441+16562C>T (n.3441+16562C>T)
c.*299G>A (n.*299G>A)
c.1474G>A (p.Val492Met)
c.276+16562C>T (n.276+16562C>T)
c.*220+5982G>A (n.*220+5982G>A)
c.598G>A (p.Val200Met)
c.625G>A (p.Val209Met)
c.1480G>A (p.Val494Met)
c.1294G>A (p.Val432Met)
c.1213G>A (p.Val405Met)
c.919G>A (p.Val307Met)
c.1300G>A (p.Val434Met)
2g.48688243A>CCA346746296GTF2A1L,LHCGR,STON1-GTF2A1Lc.1554T>G (p.Asp518Glu)
c.948-104T>G (n.948-104T>G)
c.3441+16563A>C (n.3441+16563A>C)
c.*298T>G (n.*298T>G)
c.1473T>G (p.Asp491Glu)
c.276+16563A>C (n.276+16563A>C)
c.*220+5981T>G (n.*220+5981T>G)
c.597T>G (p.Asp199Glu)
c.624T>G (p.Asp208Glu)
c.1479T>G (p.Asp493Glu)
c.1293T>G (p.Asp431Glu)
c.1212T>G (p.Asp404Glu)
c.918T>G (p.Asp306Glu)
c.1299T>G (p.Asp433Glu)
2g.48688243A>GCA426125437GTF2A1L,LHCGR,STON1-GTF2A1Lc.1554T>C (p.Asp518=)
c.948-104T>C (n.948-104T>C)
c.3441+16563A>G (n.3441+16563A>G)
c.*298T>C (n.*298T>C)
c.1473T>C (p.Asp491=)
c.276+16563A>G (n.276+16563A>G)
c.*220+5981T>C (n.*220+5981T>C)
c.597T>C (p.Asp199=)
c.624T>C (p.Asp208=)
c.1479T>C (p.Asp493=)
c.1293T>C (p.Asp431=)
c.1212T>C (p.Asp404=)
c.918T>C (p.Asp306=)
c.1299T>C (p.Asp433=)
2g.48688243A>TCA346746290GTF2A1L,LHCGR,STON1-GTF2A1Lc.1554T>A (p.Asp518Glu)
c.948-104T>A (n.948-104T>A)
c.3441+16563A>T (n.3441+16563A>T)
c.*298T>A (n.*298T>A)
c.1473T>A (p.Asp491Glu)
c.276+16563A>T (n.276+16563A>T)
c.*220+5981T>A (n.*220+5981T>A)
c.597T>A (p.Asp199Glu)
c.624T>A (p.Asp208Glu)
c.1479T>A (p.Asp493Glu)
c.1293T>A (p.Asp431Glu)
c.1212T>A (p.Asp404Glu)
c.918T>A (p.Asp306Glu)
c.1299T>A (p.Asp433Glu)
2g.48688244T>ACA46752910GTF2A1L,LHCGR,STON1-GTF2A1Lc.1553A>T (p.Asp518Val)
c.948-105A>T (n.948-105A>T)
c.3441+16564T>A (n.3441+16564T>A)
c.*297A>T (n.*297A>T)
c.1472A>T (p.Asp491Val)
c.276+16564T>A (n.276+16564T>A)
c.*220+5980A>T (n.*220+5980A>T)
c.596A>T (p.Asp199Val)
c.623A>T (p.Asp208Val)
c.1478A>T (p.Asp493Val)
c.1292A>T (p.Asp431Val)
c.1211A>T (p.Asp404Val)
c.917A>T (p.Asp306Val)
c.1298A>T (p.Asp433Val)
 dbSNP gnomAD v3 gnomAD v4
2g.48688244T>CCA346746302GTF2A1L,LHCGR,STON1-GTF2A1Lc.1553A>G (p.Asp518Gly)
c.948-105A>G (n.948-105A>G)
c.3441+16564T>C (n.3441+16564T>C)
c.*297A>G (n.*297A>G)
c.1472A>G (p.Asp491Gly)
c.276+16564T>C (n.276+16564T>C)
c.*220+5980A>G (n.*220+5980A>G)
c.596A>G (p.Asp199Gly)
c.623A>G (p.Asp208Gly)
c.1478A>G (p.Asp493Gly)
c.1292A>G (p.Asp431Gly)
c.1211A>G (p.Asp404Gly)
c.917A>G (p.Asp306Gly)
c.1298A>G (p.Asp433Gly)
2g.48688244T>GCA346746316GTF2A1L,LHCGR,STON1-GTF2A1Lc.1553A>C (p.Asp518Ala)
c.948-105A>C (n.948-105A>C)
c.3441+16564T>G (n.3441+16564T>G)
c.*297A>C (n.*297A>C)
c.1472A>C (p.Asp491Ala)
c.276+16564T>G (n.276+16564T>G)
c.*220+5980A>C (n.*220+5980A>C)
c.596A>C (p.Asp199Ala)
c.623A>C (p.Asp208Ala)
c.1478A>C (p.Asp493Ala)
c.1292A>C (p.Asp431Ala)
c.1211A>C (p.Asp404Ala)
c.917A>C (p.Asp306Ala)
c.1298A>C (p.Asp433Ala)
2g.48688244T=CA1248601048GTF2A1L,LHCGR,STON1-GTF2A1Lc.1553A= (p.Asp518=)
c.948-105A= (n.948-105A=)
c.3441+16564T= (n.3441+16564T=)
c.*297A= (n.*297A=)
c.1472A= (p.Asp491=)
c.276+16564T= (n.276+16564T=)
c.*220+5980A= (n.*220+5980A=)
c.596A= (p.Asp199=)
c.623A= (p.Asp208=)
c.1478A= (p.Asp493=)
c.1292A= (p.Asp431=)
c.1211A= (p.Asp404=)
c.917A= (p.Asp306=)
c.1298A= (p.Asp433=)
2g.48688245C>ACA346746319GTF2A1L,LHCGR,STON1-GTF2A1Lc.1552G>T (p.Asp518Tyr)
c.948-106G>T (n.948-106G>T)
c.3441+16565C>A (n.3441+16565C>A)
c.*296G>T (n.*296G>T)
c.1471G>T (p.Asp491Tyr)
c.276+16565C>A (n.276+16565C>A)
c.*220+5979G>T (n.*220+5979G>T)
c.595G>T (p.Asp199Tyr)
c.622G>T (p.Asp208Tyr)
c.1477G>T (p.Asp493Tyr)
c.1291G>T (p.Asp431Tyr)
c.1210G>T (p.Asp404Tyr)
c.916G>T (p.Asp306Tyr)
c.1297G>T (p.Asp433Tyr)
2g.48688245C>GCA346746322GTF2A1L,LHCGR,STON1-GTF2A1Lc.1552G>C (p.Asp518His)
c.948-106G>C (n.948-106G>C)
c.3441+16565C>G (n.3441+16565C>G)
c.*296G>C (n.*296G>C)
c.1471G>C (p.Asp491His)
c.276+16565C>G (n.276+16565C>G)
c.*220+5979G>C (n.*220+5979G>C)
c.595G>C (p.Asp199His)
c.622G>C (p.Asp208His)
c.1477G>C (p.Asp493His)
c.1291G>C (p.Asp431His)
c.1210G>C (p.Asp404His)
c.916G>C (p.Asp306His)
c.1297G>C (p.Asp433His)
2g.48688245C>TCA346746325GTF2A1L,LHCGR,STON1-GTF2A1Lc.1552G>A (p.Asp518Asn)
c.948-106G>A (n.948-106G>A)
c.3441+16565C>T (n.3441+16565C>T)
c.*296G>A (n.*296G>A)
c.1471G>A (p.Asp491Asn)
c.276+16565C>T (n.276+16565C>T)
c.*220+5979G>A (n.*220+5979G>A)
c.595G>A (p.Asp199Asn)
c.622G>A (p.Asp208Asn)
c.1477G>A (p.Asp493Asn)
c.1291G>A (p.Asp431Asn)
c.1210G>A (p.Asp404Asn)
c.916G>A (p.Asp306Asn)
c.1297G>A (p.Asp433Asn)
2g.48688246C>ACA346746327GTF2A1L,LHCGR,STON1-GTF2A1Lc.1551G>T (p.Met517Ile)
c.948-107G>T (n.948-107G>T)
c.3441+16566C>A (n.3441+16566C>A)
c.*295G>T (n.*295G>T)
c.1470G>T (p.Met490Ile)
c.276+16566C>A (n.276+16566C>A)
c.*220+5978G>T (n.*220+5978G>T)
c.594G>T (p.Met198Ile)
c.621G>T (p.Met207Ile)
c.1476G>T (p.Met492Ile)
c.1290G>T (p.Met430Ile)
c.1209G>T (p.Met403Ile)
c.915G>T (p.Met305Ile)
c.1296G>T (p.Met432Ile)
2g.48688246C>GCA346746329GTF2A1L,LHCGR,STON1-GTF2A1Lc.1551G>C (p.Met517Ile)
c.948-107G>C (n.948-107G>C)
c.3441+16566C>G (n.3441+16566C>G)
c.*295G>C (n.*295G>C)
c.1470G>C (p.Met490Ile)
c.276+16566C>G (n.276+16566C>G)
c.*220+5978G>C (n.*220+5978G>C)
c.594G>C (p.Met198Ile)
c.621G>C (p.Met207Ile)
c.1476G>C (p.Met492Ile)
c.1290G>C (p.Met430Ile)
c.1209G>C (p.Met403Ile)
c.915G>C (p.Met305Ile)
c.1296G>C (p.Met432Ile)
2g.48688246C>TCA346746336GTF2A1L,LHCGR,STON1-GTF2A1Lc.1551G>A (p.Met517Ile)
c.948-107G>A (n.948-107G>A)
c.3441+16566C>T (n.3441+16566C>T)
c.*295G>A (n.*295G>A)
c.1470G>A (p.Met490Ile)
c.276+16566C>T (n.276+16566C>T)
c.*220+5978G>A (n.*220+5978G>A)
c.594G>A (p.Met198Ile)
c.621G>A (p.Met207Ile)
c.1476G>A (p.Met492Ile)
c.1290G>A (p.Met430Ile)
c.1209G>A (p.Met403Ile)
c.915G>A (p.Met305Ile)
c.1296G>A (p.Met432Ile)
 gnomAD v4
2g.48688247A=CA1248601049GTF2A1L,LHCGR,STON1-GTF2A1Lc.1550T= (p.Met517=)
c.948-108T= (n.948-108T=)
c.3441+16567A= (n.3441+16567A=)
c.*294T= (n.*294T=)
c.1469T= (p.Met490=)
c.276+16567A= (n.276+16567A=)
c.*220+5977T= (n.*220+5977T=)
c.593T= (p.Met198=)
c.620T= (p.Met207=)
c.1475T= (p.Met492=)
c.1289T= (p.Met430=)
c.1208T= (p.Met403=)
c.914T= (p.Met305=)
c.1295T= (p.Met432=)
2g.48688247A>CCA346746339GTF2A1L,LHCGR,STON1-GTF2A1Lc.1550T>G (p.Met517Arg)
c.948-108T>G (n.948-108T>G)
c.3441+16567A>C (n.3441+16567A>C)
c.*294T>G (n.*294T>G)
c.1469T>G (p.Met490Arg)
c.276+16567A>C (n.276+16567A>C)
c.*220+5977T>G (n.*220+5977T>G)
c.593T>G (p.Met198Arg)
c.620T>G (p.Met207Arg)
c.1475T>G (p.Met492Arg)
c.1289T>G (p.Met430Arg)
c.1208T>G (p.Met403Arg)
c.914T>G (p.Met305Arg)
c.1295T>G (p.Met432Arg)
2g.48688247A>GCA346746342GTF2A1L,LHCGR,STON1-GTF2A1Lc.1550T>C (p.Met517Thr)
c.948-108T>C (n.948-108T>C)
c.3441+16567A>G (n.3441+16567A>G)
c.*294T>C (n.*294T>C)
c.1469T>C (p.Met490Thr)
c.276+16567A>G (n.276+16567A>G)
c.*220+5977T>C (n.*220+5977T>C)
c.593T>C (p.Met198Thr)
c.620T>C (p.Met207Thr)
c.1475T>C (p.Met492Thr)
c.1289T>C (p.Met430Thr)
c.1208T>C (p.Met403Thr)
c.914T>C (p.Met305Thr)
c.1295T>C (p.Met432Thr)
 dbSNP
2g.48688247A>TCA346746343GTF2A1L,LHCGR,STON1-GTF2A1Lc.1550T>A (p.Met517Lys)
c.948-108T>A (n.948-108T>A)
c.3441+16567A>T (n.3441+16567A>T)
c.*294T>A (n.*294T>A)
c.1469T>A (p.Met490Lys)
c.276+16567A>T (n.276+16567A>T)
c.*220+5977T>A (n.*220+5977T>A)
c.593T>A (p.Met198Lys)
c.620T>A (p.Met207Lys)
c.1475T>A (p.Met492Lys)
c.1289T>A (p.Met430Lys)
c.1208T>A (p.Met403Lys)
c.914T>A (p.Met305Lys)
c.1295T>A (p.Met432Lys)
2g.48688248T>ACA346746349GTF2A1L,LHCGR,STON1-GTF2A1Lc.1549A>T (p.Met517Leu)
c.948-109A>T (n.948-109A>T)
c.3441+16568T>A (n.3441+16568T>A)
c.*293A>T (n.*293A>T)
c.1468A>T (p.Met490Leu)
c.276+16568T>A (n.276+16568T>A)
c.*220+5976A>T (n.*220+5976A>T)
c.592A>T (p.Met198Leu)
c.619A>T (p.Met207Leu)
c.1474A>T (p.Met492Leu)
c.1288A>T (p.Met430Leu)
c.1207A>T (p.Met403Leu)
c.913A>T (p.Met305Leu)
c.1294A>T (p.Met432Leu)

Number of alleles fetched