Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48687950G>ACA346744203GTF2A1L,LHCGR,STON1-GTF2A1Lc.1847C>T (p.Ser616Phe)
c.*159C>T (n.*159C>T)
c.3441+16270G>A (n.3441+16270G>A)
c.*591C>T (n.*591C>T)
c.1766C>T (p.Ser589Phe)
c.276+16270G>A (n.276+16270G>A)
c.*220+6274C>T (n.*220+6274C>T)
c.890C>T (p.Ser297Phe)
c.917C>T (p.Ser306Phe)
c.1772C>T (p.Ser591Phe)
c.1586C>T (p.Ser529Phe)
c.1505C>T (p.Ser502Phe)
c.1211C>T (p.Ser404Phe)
c.1592C>T (p.Ser531Phe)
 COSMIC
2g.48687950G>CCA346744199GTF2A1L,LHCGR,STON1-GTF2A1Lc.1847C>G (p.Ser616Cys)
c.*159C>G (n.*159C>G)
c.3441+16270G>C (n.3441+16270G>C)
c.*591C>G (n.*591C>G)
c.1766C>G (p.Ser589Cys)
c.276+16270G>C (n.276+16270G>C)
c.*220+6274C>G (n.*220+6274C>G)
c.890C>G (p.Ser297Cys)
c.917C>G (p.Ser306Cys)
c.1772C>G (p.Ser591Cys)
c.1586C>G (p.Ser529Cys)
c.1505C>G (p.Ser502Cys)
c.1211C>G (p.Ser404Cys)
c.1592C>G (p.Ser531Cys)
2g.48687950G=CA1248600915GTF2A1L,LHCGR,STON1-GTF2A1Lc.1847C= (p.Ser616=)
c.*159C= (n.*159C=)
c.3441+16270G= (n.3441+16270G=)
c.*591C= (n.*591C=)
c.1766C= (p.Ser589=)
c.276+16270G= (n.276+16270G=)
c.*220+6274C= (n.*220+6274C=)
c.890C= (p.Ser297=)
c.917C= (p.Ser306=)
c.1772C= (p.Ser591=)
c.1586C= (p.Ser529=)
c.1505C= (p.Ser502=)
c.1211C= (p.Ser404=)
c.1592C= (p.Ser531=)
2g.48687950G>TCA123923GTF2A1L,LHCGR,STON1-GTF2A1Lc.1847C>A (p.Ser616Tyr)
c.*159C>A (n.*159C>A)
c.3441+16270G>T (n.3441+16270G>T)
c.*591C>A (n.*591C>A)
c.1766C>A (p.Ser589Tyr)
c.276+16270G>T (n.276+16270G>T)
c.*220+6274C>A (n.*220+6274C>A)
c.890C>A (p.Ser297Tyr)
c.917C>A (p.Ser306Tyr)
c.1772C>A (p.Ser591Tyr)
c.1586C>A (p.Ser529Tyr)
c.1505C>A (p.Ser502Tyr)
c.1211C>A (p.Ser404Tyr)
c.1592C>A (p.Ser531Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687951A=CA1248600916GTF2A1L,LHCGR,STON1-GTF2A1Lc.1846T= (p.Ser616=)
c.*158T= (n.*158T=)
c.3441+16271A= (n.3441+16271A=)
c.*590T= (n.*590T=)
c.1765T= (p.Ser589=)
c.276+16271A= (n.276+16271A=)
c.*220+6273T= (n.*220+6273T=)
c.889T= (p.Ser297=)
c.916T= (p.Ser306=)
c.1771T= (p.Ser591=)
c.1585T= (p.Ser529=)
c.1504T= (p.Ser502=)
c.1210T= (p.Ser404=)
c.1591T= (p.Ser531=)
2g.48687951A>CCA346744206GTF2A1L,LHCGR,STON1-GTF2A1Lc.1846T>G (p.Ser616Ala)
c.*158T>G (n.*158T>G)
c.3441+16271A>C (n.3441+16271A>C)
c.*590T>G (n.*590T>G)
c.1765T>G (p.Ser589Ala)
c.276+16271A>C (n.276+16271A>C)
c.*220+6273T>G (n.*220+6273T>G)
c.889T>G (p.Ser297Ala)
c.916T>G (p.Ser306Ala)
c.1771T>G (p.Ser591Ala)
c.1585T>G (p.Ser529Ala)
c.1504T>G (p.Ser502Ala)
c.1210T>G (p.Ser404Ala)
c.1591T>G (p.Ser531Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.48687951A>GCA346744208GTF2A1L,LHCGR,STON1-GTF2A1Lc.1846T>C (p.Ser616Pro)
c.*158T>C (n.*158T>C)
c.3441+16271A>G (n.3441+16271A>G)
c.*590T>C (n.*590T>C)
c.1765T>C (p.Ser589Pro)
c.276+16271A>G (n.276+16271A>G)
c.*220+6273T>C (n.*220+6273T>C)
c.889T>C (p.Ser297Pro)
c.916T>C (p.Ser306Pro)
c.1771T>C (p.Ser591Pro)
c.1585T>C (p.Ser529Pro)
c.1504T>C (p.Ser502Pro)
c.1210T>C (p.Ser404Pro)
c.1591T>C (p.Ser531Pro)
 gnomAD v4
2g.48687951A>TCA346744209GTF2A1L,LHCGR,STON1-GTF2A1Lc.1846T>A (p.Ser616Thr)
c.*158T>A (n.*158T>A)
c.3441+16271A>T (n.3441+16271A>T)
c.*590T>A (n.*590T>A)
c.1765T>A (p.Ser589Thr)
c.276+16271A>T (n.276+16271A>T)
c.*220+6273T>A (n.*220+6273T>A)
c.889T>A (p.Ser297Thr)
c.916T>A (p.Ser306Thr)
c.1771T>A (p.Ser591Thr)
c.1585T>A (p.Ser529Thr)
c.1504T>A (p.Ser502Thr)
c.1210T>A (p.Ser404Thr)
c.1591T>A (p.Ser531Thr)
2g.48687952A=CA1248600917GTF2A1L,LHCGR,STON1-GTF2A1Lc.1845T= (p.Asn615=)
c.*157T= (n.*157T=)
c.3441+16272A= (n.3441+16272A=)
c.*589T= (n.*589T=)
c.1764T= (p.Asn588=)
c.276+16272A= (n.276+16272A=)
c.*220+6272T= (n.*220+6272T=)
c.888T= (p.Asn296=)
c.915T= (p.Asn305=)
c.1770T= (p.Asn590=)
c.1584T= (p.Asn528=)
c.1503T= (p.Asn501=)
c.1209T= (p.Asn403=)
c.1590T= (p.Asn530=)
2g.48687952A>CCA346744210GTF2A1L,LHCGR,STON1-GTF2A1Lc.1845T>G (p.Asn615Lys)
c.*157T>G (n.*157T>G)
c.3441+16272A>C (n.3441+16272A>C)
c.*589T>G (n.*589T>G)
c.1764T>G (p.Asn588Lys)
c.276+16272A>C (n.276+16272A>C)
c.*220+6272T>G (n.*220+6272T>G)
c.888T>G (p.Asn296Lys)
c.915T>G (p.Asn305Lys)
c.1770T>G (p.Asn590Lys)
c.1584T>G (p.Asn528Lys)
c.1503T>G (p.Asn501Lys)
c.1209T>G (p.Asn403Lys)
c.1590T>G (p.Asn530Lys)
2g.48687952A>GCA1652977GTF2A1L,LHCGR,STON1-GTF2A1Lc.1845T>C (p.Asn615=)
c.*157T>C (n.*157T>C)
c.3441+16272A>G (n.3441+16272A>G)
c.*589T>C (n.*589T>C)
c.1764T>C (p.Asn588=)
c.276+16272A>G (n.276+16272A>G)
c.*220+6272T>C (n.*220+6272T>C)
c.888T>C (p.Asn296=)
c.915T>C (p.Asn305=)
c.1770T>C (p.Asn590=)
c.1584T>C (p.Asn528=)
c.1503T>C (p.Asn501=)
c.1209T>C (p.Asn403=)
c.1590T>C (p.Asn530=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687952A>TCA346744217GTF2A1L,LHCGR,STON1-GTF2A1Lc.1845T>A (p.Asn615Lys)
c.*157T>A (n.*157T>A)
c.3441+16272A>T (n.3441+16272A>T)
c.*589T>A (n.*589T>A)
c.1764T>A (p.Asn588Lys)
c.276+16272A>T (n.276+16272A>T)
c.*220+6272T>A (n.*220+6272T>A)
c.888T>A (p.Asn296Lys)
c.915T>A (p.Asn305Lys)
c.1770T>A (p.Asn590Lys)
c.1584T>A (p.Asn528Lys)
c.1503T>A (p.Asn501Lys)
c.1209T>A (p.Asn403Lys)
c.1590T>A (p.Asn530Lys)
 COSMIC
2g.48687952_48687953dupCA532706162GTF2A1L,LHCGR,STON1-GTF2A1Lc.1844_1845dup (p.Ser616IlefsTer24)
c.*156_*157dup (n.*156_*157dup)
c.3441+16272_3441+16273dup (n.3441+16272_3441+16273dup)
c.*588_*589dup (n.*588_*589dup)
c.1763_1764dup (p.Ser589IlefsTer24)
c.276+16272_276+16273dup (n.276+16272_276+16273dup)
c.*220+6271_*220+6272dup (n.*220+6271_*220+6272dup)
c.887_888dup (p.Ser297IlefsTer24)
c.914_915dup (p.Ser306IlefsTer24)
c.1769_1770dup (p.Ser591IlefsTer24)
c.1583_1584dup (p.Ser529IlefsTer24)
c.1502_1503dup (p.Ser502IlefsTer24)
c.1208_1209dup (p.Ser404IlefsTer24)
c.1589_1590dup (p.Ser531IlefsTer24)
 gnomAD v2 gnomAD v4
2g.48687953T>ACA346744229GTF2A1L,LHCGR,STON1-GTF2A1Lc.1844A>T (p.Asn615Ile)
c.*156A>T (n.*156A>T)
c.3441+16273T>A (n.3441+16273T>A)
c.*588A>T (n.*588A>T)
c.1763A>T (p.Asn588Ile)
c.276+16273T>A (n.276+16273T>A)
c.*220+6271A>T (n.*220+6271A>T)
c.887A>T (p.Asn296Ile)
c.914A>T (p.Asn305Ile)
c.1769A>T (p.Asn590Ile)
c.1583A>T (p.Asn528Ile)
c.1502A>T (p.Asn501Ile)
c.1208A>T (p.Asn403Ile)
c.1589A>T (p.Asn530Ile)
2g.48687953T>CCA346744233GTF2A1L,LHCGR,STON1-GTF2A1Lc.1844A>G (p.Asn615Ser)
c.*156A>G (n.*156A>G)
c.3441+16273T>C (n.3441+16273T>C)
c.*588A>G (n.*588A>G)
c.1763A>G (p.Asn588Ser)
c.276+16273T>C (n.276+16273T>C)
c.*220+6271A>G (n.*220+6271A>G)
c.887A>G (p.Asn296Ser)
c.914A>G (p.Asn305Ser)
c.1769A>G (p.Asn590Ser)
c.1583A>G (p.Asn528Ser)
c.1502A>G (p.Asn501Ser)
c.1208A>G (p.Asn403Ser)
c.1589A>G (p.Asn530Ser)
2g.48687953T>GCA346744235GTF2A1L,LHCGR,STON1-GTF2A1Lc.1844A>C (p.Asn615Thr)
c.*156A>C (n.*156A>C)
c.3441+16273T>G (n.3441+16273T>G)
c.*588A>C (n.*588A>C)
c.1763A>C (p.Asn588Thr)
c.276+16273T>G (n.276+16273T>G)
c.*220+6271A>C (n.*220+6271A>C)
c.887A>C (p.Asn296Thr)
c.914A>C (p.Asn305Thr)
c.1769A>C (p.Asn590Thr)
c.1583A>C (p.Asn528Thr)
c.1502A>C (p.Asn501Thr)
c.1208A>C (p.Asn403Thr)
c.1589A>C (p.Asn530Thr)
 gnomAD v4
2g.48687954T>ACA346744237GTF2A1L,LHCGR,STON1-GTF2A1Lc.1843A>T (p.Asn615Tyr)
c.*155A>T (n.*155A>T)
c.3441+16274T>A (n.3441+16274T>A)
c.*587A>T (n.*587A>T)
c.1762A>T (p.Asn588Tyr)
c.276+16274T>A (n.276+16274T>A)
c.*220+6270A>T (n.*220+6270A>T)
c.886A>T (p.Asn296Tyr)
c.913A>T (p.Asn305Tyr)
c.1768A>T (p.Asn590Tyr)
c.1582A>T (p.Asn528Tyr)
c.1501A>T (p.Asn501Tyr)
c.1207A>T (p.Asn403Tyr)
c.1588A>T (p.Asn530Tyr)
2g.48687954T>CCA346744238GTF2A1L,LHCGR,STON1-GTF2A1Lc.1843A>G (p.Asn615Asp)
c.*155A>G (n.*155A>G)
c.3441+16274T>C (n.3441+16274T>C)
c.*587A>G (n.*587A>G)
c.1762A>G (p.Asn588Asp)
c.276+16274T>C (n.276+16274T>C)
c.*220+6270A>G (n.*220+6270A>G)
c.886A>G (p.Asn296Asp)
c.913A>G (p.Asn305Asp)
c.1768A>G (p.Asn590Asp)
c.1582A>G (p.Asn528Asp)
c.1501A>G (p.Asn501Asp)
c.1207A>G (p.Asn403Asp)
c.1588A>G (p.Asn530Asp)
2g.48687954T>GCA346744239GTF2A1L,LHCGR,STON1-GTF2A1Lc.1843A>C (p.Asn615His)
c.*155A>C (n.*155A>C)
c.3441+16274T>G (n.3441+16274T>G)
c.*587A>C (n.*587A>C)
c.1762A>C (p.Asn588His)
c.276+16274T>G (n.276+16274T>G)
c.*220+6270A>C (n.*220+6270A>C)
c.886A>C (p.Asn296His)
c.913A>C (p.Asn305His)
c.1768A>C (p.Asn590His)
c.1582A>C (p.Asn528His)
c.1501A>C (p.Asn501His)
c.1207A>C (p.Asn403His)
c.1588A>C (p.Asn530His)
2g.48687955G>ACA426125546GTF2A1L,LHCGR,STON1-GTF2A1Lc.1842C>T (p.Ile614=)
c.*154C>T (n.*154C>T)
c.3441+16275G>A (n.3441+16275G>A)
c.*586C>T (n.*586C>T)
c.1761C>T (p.Ile587=)
c.276+16275G>A (n.276+16275G>A)
c.*220+6269C>T (n.*220+6269C>T)
c.885C>T (p.Ile295=)
c.912C>T (p.Ile304=)
c.1767C>T (p.Ile589=)
c.1581C>T (p.Ile527=)
c.1500C>T (p.Ile500=)
c.1206C>T (p.Ile402=)
c.1587C>T (p.Ile529=)
2g.48687955G>CCA346744240GTF2A1L,LHCGR,STON1-GTF2A1Lc.1842C>G (p.Ile614Met)
c.*154C>G (n.*154C>G)
c.3441+16275G>C (n.3441+16275G>C)
c.*586C>G (n.*586C>G)
c.1761C>G (p.Ile587Met)
c.276+16275G>C (n.276+16275G>C)
c.*220+6269C>G (n.*220+6269C>G)
c.885C>G (p.Ile295Met)
c.912C>G (p.Ile304Met)
c.1767C>G (p.Ile589Met)
c.1581C>G (p.Ile527Met)
c.1500C>G (p.Ile500Met)
c.1206C>G (p.Ile402Met)
c.1587C>G (p.Ile529Met)
2g.48687955G>TCA426125549GTF2A1L,LHCGR,STON1-GTF2A1Lc.1842C>A (p.Ile614=)
c.*154C>A (n.*154C>A)
c.3441+16275G>T (n.3441+16275G>T)
c.*586C>A (n.*586C>A)
c.1761C>A (p.Ile587=)
c.276+16275G>T (n.276+16275G>T)
c.*220+6269C>A (n.*220+6269C>A)
c.885C>A (p.Ile295=)
c.912C>A (p.Ile304=)
c.1767C>A (p.Ile589=)
c.1581C>A (p.Ile527=)
c.1500C>A (p.Ile500=)
c.1206C>A (p.Ile402=)
c.1587C>A (p.Ile529=)
2g.48687956A=CA1248600918GTF2A1L,LHCGR,STON1-GTF2A1Lc.1841T= (p.Ile614=)
c.*153T= (n.*153T=)
c.3441+16276A= (n.3441+16276A=)
c.*585T= (n.*585T=)
c.1760T= (p.Ile587=)
c.276+16276A= (n.276+16276A=)
c.*220+6268T= (n.*220+6268T=)
c.884T= (p.Ile295=)
c.911T= (p.Ile304=)
c.1766T= (p.Ile589=)
c.1580T= (p.Ile527=)
c.1499T= (p.Ile500=)
c.1205T= (p.Ile402=)
c.1586T= (p.Ile529=)
2g.48687956A>CCA1652979GTF2A1L,LHCGR,STON1-GTF2A1Lc.1841T>G (p.Ile614Ser)
c.*153T>G (n.*153T>G)
c.3441+16276A>C (n.3441+16276A>C)
c.*585T>G (n.*585T>G)
c.1760T>G (p.Ile587Ser)
c.276+16276A>C (n.276+16276A>C)
c.*220+6268T>G (n.*220+6268T>G)
c.884T>G (p.Ile295Ser)
c.911T>G (p.Ile304Ser)
c.1766T>G (p.Ile589Ser)
c.1580T>G (p.Ile527Ser)
c.1499T>G (p.Ile500Ser)
c.1205T>G (p.Ile402Ser)
c.1586T>G (p.Ile529Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687956A>GCA346744242GTF2A1L,LHCGR,STON1-GTF2A1Lc.1841T>C (p.Ile614Thr)
c.*153T>C (n.*153T>C)
c.3441+16276A>G (n.3441+16276A>G)
c.*585T>C (n.*585T>C)
c.1760T>C (p.Ile587Thr)
c.276+16276A>G (n.276+16276A>G)
c.*220+6268T>C (n.*220+6268T>C)
c.884T>C (p.Ile295Thr)
c.911T>C (p.Ile304Thr)
c.1766T>C (p.Ile589Thr)
c.1580T>C (p.Ile527Thr)
c.1499T>C (p.Ile500Thr)
c.1205T>C (p.Ile402Thr)
c.1586T>C (p.Ile529Thr)
2g.48687956A>TCA1652978GTF2A1L,LHCGR,STON1-GTF2A1Lc.1841T>A (p.Ile614Asn)
c.*153T>A (n.*153T>A)
c.3441+16276A>T (n.3441+16276A>T)
c.*585T>A (n.*585T>A)
c.1760T>A (p.Ile587Asn)
c.276+16276A>T (n.276+16276A>T)
c.*220+6268T>A (n.*220+6268T>A)
c.884T>A (p.Ile295Asn)
c.911T>A (p.Ile304Asn)
c.1766T>A (p.Ile589Asn)
c.1580T>A (p.Ile527Asn)
c.1499T>A (p.Ile500Asn)
c.1205T>A (p.Ile402Asn)
c.1586T>A (p.Ile529Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687957T>ACA346744259GTF2A1L,LHCGR,STON1-GTF2A1Lc.1840A>T (p.Ile614Phe)
c.*152A>T (n.*152A>T)
c.3441+16277T>A (n.3441+16277T>A)
c.*584A>T (n.*584A>T)
c.1759A>T (p.Ile587Phe)
c.276+16277T>A (n.276+16277T>A)
c.*220+6267A>T (n.*220+6267A>T)
c.883A>T (p.Ile295Phe)
c.910A>T (p.Ile304Phe)
c.1765A>T (p.Ile589Phe)
c.1579A>T (p.Ile527Phe)
c.1498A>T (p.Ile500Phe)
c.1204A>T (p.Ile402Phe)
c.1585A>T (p.Ile529Phe)
2g.48687957T>CCA346744260GTF2A1L,LHCGR,STON1-GTF2A1Lc.1840A>G (p.Ile614Val)
c.*152A>G (n.*152A>G)
c.3441+16277T>C (n.3441+16277T>C)
c.*584A>G (n.*584A>G)
c.1759A>G (p.Ile587Val)
c.276+16277T>C (n.276+16277T>C)
c.*220+6267A>G (n.*220+6267A>G)
c.883A>G (p.Ile295Val)
c.910A>G (p.Ile304Val)
c.1765A>G (p.Ile589Val)
c.1579A>G (p.Ile527Val)
c.1498A>G (p.Ile500Val)
c.1204A>G (p.Ile402Val)
c.1585A>G (p.Ile529Val)
2g.48687957T>GCA346744264GTF2A1L,LHCGR,STON1-GTF2A1Lc.1840A>C (p.Ile614Leu)
c.*152A>C (n.*152A>C)
c.3441+16277T>G (n.3441+16277T>G)
c.*584A>C (n.*584A>C)
c.1759A>C (p.Ile587Leu)
c.276+16277T>G (n.276+16277T>G)
c.*220+6267A>C (n.*220+6267A>C)
c.883A>C (p.Ile295Leu)
c.910A>C (p.Ile304Leu)
c.1765A>C (p.Ile589Leu)
c.1579A>C (p.Ile527Leu)
c.1498A>C (p.Ile500Leu)
c.1204A>C (p.Ile402Leu)
c.1585A>C (p.Ile529Leu)
2g.48687958G>ACA426125559GTF2A1L,LHCGR,STON1-GTF2A1Lc.1839C>T (p.Pro613=)
c.*151C>T (n.*151C>T)
c.3441+16278G>A (n.3441+16278G>A)
c.*583C>T (n.*583C>T)
c.1758C>T (p.Pro586=)
c.276+16278G>A (n.276+16278G>A)
c.*220+6266C>T (n.*220+6266C>T)
c.882C>T (p.Pro294=)
c.909C>T (p.Pro303=)
c.1764C>T (p.Pro588=)
c.1578C>T (p.Pro526=)
c.1497C>T (p.Pro499=)
c.1203C>T (p.Pro401=)
c.1584C>T (p.Pro528=)
 dbSNP gnomAD v3 gnomAD v4
2g.48687958G>CCA426125560GTF2A1L,LHCGR,STON1-GTF2A1Lc.1839C>G (p.Pro613=)
c.*151C>G (n.*151C>G)
c.3441+16278G>C (n.3441+16278G>C)
c.*583C>G (n.*583C>G)
c.1758C>G (p.Pro586=)
c.276+16278G>C (n.276+16278G>C)
c.*220+6266C>G (n.*220+6266C>G)
c.882C>G (p.Pro294=)
c.909C>G (p.Pro303=)
c.1764C>G (p.Pro588=)
c.1578C>G (p.Pro526=)
c.1497C>G (p.Pro499=)
c.1203C>G (p.Pro401=)
c.1584C>G (p.Pro528=)
2g.48687958G=CA1248600919GTF2A1L,LHCGR,STON1-GTF2A1Lc.1839C= (p.Pro613=)
c.*151C= (n.*151C=)
c.3441+16278G= (n.3441+16278G=)
c.*583C= (n.*583C=)
c.1758C= (p.Pro586=)
c.276+16278G= (n.276+16278G=)
c.*220+6266C= (n.*220+6266C=)
c.882C= (p.Pro294=)
c.909C= (p.Pro303=)
c.1764C= (p.Pro588=)
c.1578C= (p.Pro526=)
c.1497C= (p.Pro499=)
c.1203C= (p.Pro401=)
c.1584C= (p.Pro528=)
2g.48687958G>TCA426125562GTF2A1L,LHCGR,STON1-GTF2A1Lc.1839C>A (p.Pro613=)
c.*151C>A (n.*151C>A)
c.3441+16278G>T (n.3441+16278G>T)
c.*583C>A (n.*583C>A)
c.1758C>A (p.Pro586=)
c.276+16278G>T (n.276+16278G>T)
c.*220+6266C>A (n.*220+6266C>A)
c.882C>A (p.Pro294=)
c.909C>A (p.Pro303=)
c.1764C>A (p.Pro588=)
c.1578C>A (p.Pro526=)
c.1497C>A (p.Pro499=)
c.1203C>A (p.Pro401=)
c.1584C>A (p.Pro528=)
 dbSNP gnomAD v4
2g.48687959G>ACA346744267GTF2A1L,LHCGR,STON1-GTF2A1Lc.1838C>T (p.Pro613Leu)
c.*150C>T (n.*150C>T)
c.3441+16279G>A (n.3441+16279G>A)
c.*582C>T (n.*582C>T)
c.1757C>T (p.Pro586Leu)
c.276+16279G>A (n.276+16279G>A)
c.*220+6265C>T (n.*220+6265C>T)
c.881C>T (p.Pro294Leu)
c.908C>T (p.Pro303Leu)
c.1763C>T (p.Pro588Leu)
c.1577C>T (p.Pro526Leu)
c.1496C>T (p.Pro499Leu)
c.1202C>T (p.Pro401Leu)
c.1583C>T (p.Pro528Leu)
2g.48687959G>CCA1652980GTF2A1L,LHCGR,STON1-GTF2A1Lc.1838C>G (p.Pro613Arg)
c.*150C>G (n.*150C>G)
c.3441+16279G>C (n.3441+16279G>C)
c.*582C>G (n.*582C>G)
c.1757C>G (p.Pro586Arg)
c.276+16279G>C (n.276+16279G>C)
c.*220+6265C>G (n.*220+6265C>G)
c.881C>G (p.Pro294Arg)
c.908C>G (p.Pro303Arg)
c.1763C>G (p.Pro588Arg)
c.1577C>G (p.Pro526Arg)
c.1496C>G (p.Pro499Arg)
c.1202C>G (p.Pro401Arg)
c.1583C>G (p.Pro528Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687959G=CA1248600920GTF2A1L,LHCGR,STON1-GTF2A1Lc.1838C= (p.Pro613=)
c.*150C= (n.*150C=)
c.3441+16279G= (n.3441+16279G=)
c.*582C= (n.*582C=)
c.1757C= (p.Pro586=)
c.276+16279G= (n.276+16279G=)
c.*220+6265C= (n.*220+6265C=)
c.881C= (p.Pro294=)
c.908C= (p.Pro303=)
c.1763C= (p.Pro588=)
c.1577C= (p.Pro526=)
c.1496C= (p.Pro499=)
c.1202C= (p.Pro401=)
c.1583C= (p.Pro528=)
2g.48687959G>TCA346744271GTF2A1L,LHCGR,STON1-GTF2A1Lc.1838C>A (p.Pro613His)
c.*150C>A (n.*150C>A)
c.3441+16279G>T (n.3441+16279G>T)
c.*582C>A (n.*582C>A)
c.1757C>A (p.Pro586His)
c.276+16279G>T (n.276+16279G>T)
c.*220+6265C>A (n.*220+6265C>A)
c.881C>A (p.Pro294His)
c.908C>A (p.Pro303His)
c.1763C>A (p.Pro588His)
c.1577C>A (p.Pro526His)
c.1496C>A (p.Pro499His)
c.1202C>A (p.Pro401His)
c.1583C>A (p.Pro528His)
2g.48687960G>ACA346744274GTF2A1L,LHCGR,STON1-GTF2A1Lc.1837C>T (p.Pro613Ser)
c.*149C>T (n.*149C>T)
c.3441+16280G>A (n.3441+16280G>A)
c.*581C>T (n.*581C>T)
c.1756C>T (p.Pro586Ser)
c.276+16280G>A (n.276+16280G>A)
c.*220+6264C>T (n.*220+6264C>T)
c.880C>T (p.Pro294Ser)
c.907C>T (p.Pro303Ser)
c.1762C>T (p.Pro588Ser)
c.1576C>T (p.Pro526Ser)
c.1495C>T (p.Pro499Ser)
c.1201C>T (p.Pro401Ser)
c.1582C>T (p.Pro528Ser)
 COSMIC
2g.48687960G>CCA346744276GTF2A1L,LHCGR,STON1-GTF2A1Lc.1837C>G (p.Pro613Ala)
c.*149C>G (n.*149C>G)
c.3441+16280G>C (n.3441+16280G>C)
c.*581C>G (n.*581C>G)
c.1756C>G (p.Pro586Ala)
c.276+16280G>C (n.276+16280G>C)
c.*220+6264C>G (n.*220+6264C>G)
c.880C>G (p.Pro294Ala)
c.907C>G (p.Pro303Ala)
c.1762C>G (p.Pro588Ala)
c.1576C>G (p.Pro526Ala)
c.1495C>G (p.Pro499Ala)
c.1201C>G (p.Pro401Ala)
c.1582C>G (p.Pro528Ala)
2g.48687960G>TCA346744279GTF2A1L,LHCGR,STON1-GTF2A1Lc.1837C>A (p.Pro613Thr)
c.*149C>A (n.*149C>A)
c.3441+16280G>T (n.3441+16280G>T)
c.*581C>A (n.*581C>A)
c.1756C>A (p.Pro586Thr)
c.276+16280G>T (n.276+16280G>T)
c.*220+6264C>A (n.*220+6264C>A)
c.880C>A (p.Pro294Thr)
c.907C>A (p.Pro303Thr)
c.1762C>A (p.Pro588Thr)
c.1576C>A (p.Pro526Thr)
c.1495C>A (p.Pro499Thr)
c.1201C>A (p.Pro401Thr)
c.1582C>A (p.Pro528Thr)
2g.48687961A>CCA346744284GTF2A1L,LHCGR,STON1-GTF2A1Lc.1836T>G (p.Tyr612Ter)
c.*148T>G (n.*148T>G)
c.3441+16281A>C (n.3441+16281A>C)
c.*580T>G (n.*580T>G)
c.1755T>G (p.Tyr585Ter)
c.276+16281A>C (n.276+16281A>C)
c.*220+6263T>G (n.*220+6263T>G)
c.879T>G (p.Tyr293Ter)
c.906T>G (p.Tyr302Ter)
c.1761T>G (p.Tyr587Ter)
c.1575T>G (p.Tyr525Ter)
c.1494T>G (p.Tyr498Ter)
c.1200T>G (p.Tyr400Ter)
c.1581T>G (p.Tyr527Ter)
2g.48687961A>GCA426125577GTF2A1L,LHCGR,STON1-GTF2A1Lc.1836T>C (p.Tyr612=)
c.*148T>C (n.*148T>C)
c.3441+16281A>G (n.3441+16281A>G)
c.*580T>C (n.*580T>C)
c.1755T>C (p.Tyr585=)
c.276+16281A>G (n.276+16281A>G)
c.*220+6263T>C (n.*220+6263T>C)
c.879T>C (p.Tyr293=)
c.906T>C (p.Tyr302=)
c.1761T>C (p.Tyr587=)
c.1575T>C (p.Tyr525=)
c.1494T>C (p.Tyr498=)
c.1200T>C (p.Tyr400=)
c.1581T>C (p.Tyr527=)
2g.48687961A>TCA346744287GTF2A1L,LHCGR,STON1-GTF2A1Lc.1836T>A (p.Tyr612Ter)
c.*148T>A (n.*148T>A)
c.3441+16281A>T (n.3441+16281A>T)
c.*580T>A (n.*580T>A)
c.1755T>A (p.Tyr585Ter)
c.276+16281A>T (n.276+16281A>T)
c.*220+6263T>A (n.*220+6263T>A)
c.879T>A (p.Tyr293Ter)
c.906T>A (p.Tyr302Ter)
c.1761T>A (p.Tyr587Ter)
c.1575T>A (p.Tyr525Ter)
c.1494T>A (p.Tyr498Ter)
c.1200T>A (p.Tyr400Ter)
c.1581T>A (p.Tyr527Ter)
2g.48687962T>ACA346744290GTF2A1L,LHCGR,STON1-GTF2A1Lc.1835A>T (p.Tyr612Phe)
c.*147A>T (n.*147A>T)
c.3441+16282T>A (n.3441+16282T>A)
c.*579A>T (n.*579A>T)
c.1754A>T (p.Tyr585Phe)
c.276+16282T>A (n.276+16282T>A)
c.*220+6262A>T (n.*220+6262A>T)
c.878A>T (p.Tyr293Phe)
c.905A>T (p.Tyr302Phe)
c.1760A>T (p.Tyr587Phe)
c.1574A>T (p.Tyr525Phe)
c.1493A>T (p.Tyr498Phe)
c.1199A>T (p.Tyr400Phe)
c.1580A>T (p.Tyr527Phe)
2g.48687962T>CCA346744288GTF2A1L,LHCGR,STON1-GTF2A1Lc.1835A>G (p.Tyr612Cys)
c.*147A>G (n.*147A>G)
c.3441+16282T>C (n.3441+16282T>C)
c.*579A>G (n.*579A>G)
c.1754A>G (p.Tyr585Cys)
c.276+16282T>C (n.276+16282T>C)
c.*220+6262A>G (n.*220+6262A>G)
c.878A>G (p.Tyr293Cys)
c.905A>G (p.Tyr302Cys)
c.1760A>G (p.Tyr587Cys)
c.1574A>G (p.Tyr525Cys)
c.1493A>G (p.Tyr498Cys)
c.1199A>G (p.Tyr400Cys)
c.1580A>G (p.Tyr527Cys)
 dbSNP
2g.48687962T>GCA346744289GTF2A1L,LHCGR,STON1-GTF2A1Lc.1835A>C (p.Tyr612Ser)
c.*147A>C (n.*147A>C)
c.3441+16282T>G (n.3441+16282T>G)
c.*579A>C (n.*579A>C)
c.1754A>C (p.Tyr585Ser)
c.276+16282T>G (n.276+16282T>G)
c.*220+6262A>C (n.*220+6262A>C)
c.878A>C (p.Tyr293Ser)
c.905A>C (p.Tyr302Ser)
c.1760A>C (p.Tyr587Ser)
c.1574A>C (p.Tyr525Ser)
c.1493A>C (p.Tyr498Ser)
c.1199A>C (p.Tyr400Ser)
c.1580A>C (p.Tyr527Ser)
2g.48687962T=CA1248600921GTF2A1L,LHCGR,STON1-GTF2A1Lc.1835A= (p.Tyr612=)
c.*147A= (n.*147A=)
c.3441+16282T= (n.3441+16282T=)
c.*579A= (n.*579A=)
c.1754A= (p.Tyr585=)
c.276+16282T= (n.276+16282T=)
c.*220+6262A= (n.*220+6262A=)
c.878A= (p.Tyr293=)
c.905A= (p.Tyr302=)
c.1760A= (p.Tyr587=)
c.1574A= (p.Tyr525=)
c.1493A= (p.Tyr498=)
c.1199A= (p.Tyr400=)
c.1580A= (p.Tyr527=)
2g.48687963A=CA1248600922GTF2A1L,LHCGR,STON1-GTF2A1Lc.1834T= (p.Tyr612=)
c.*146T= (n.*146T=)
c.3441+16283A= (n.3441+16283A=)
c.*578T= (n.*578T=)
c.1753T= (p.Tyr585=)
c.276+16283A= (n.276+16283A=)
c.*220+6261T= (n.*220+6261T=)
c.877T= (p.Tyr293=)
c.904T= (p.Tyr302=)
c.1759T= (p.Tyr587=)
c.1573T= (p.Tyr525=)
c.1492T= (p.Tyr498=)
c.1198T= (p.Tyr400=)
c.1579T= (p.Tyr527=)
2g.48687963A>CCA346744291GTF2A1L,LHCGR,STON1-GTF2A1Lc.1834T>G (p.Tyr612Asp)
c.*146T>G (n.*146T>G)
c.3441+16283A>C (n.3441+16283A>C)
c.*578T>G (n.*578T>G)
c.1753T>G (p.Tyr585Asp)
c.276+16283A>C (n.276+16283A>C)
c.*220+6261T>G (n.*220+6261T>G)
c.877T>G (p.Tyr293Asp)
c.904T>G (p.Tyr302Asp)
c.1759T>G (p.Tyr587Asp)
c.1573T>G (p.Tyr525Asp)
c.1492T>G (p.Tyr498Asp)
c.1198T>G (p.Tyr400Asp)
c.1579T>G (p.Tyr527Asp)
2g.48687963A>GCA346744294GTF2A1L,LHCGR,STON1-GTF2A1Lc.1834T>C (p.Tyr612His)
c.*146T>C (n.*146T>C)
c.3441+16283A>G (n.3441+16283A>G)
c.*578T>C (n.*578T>C)
c.1753T>C (p.Tyr585His)
c.276+16283A>G (n.276+16283A>G)
c.*220+6261T>C (n.*220+6261T>C)
c.877T>C (p.Tyr293His)
c.904T>C (p.Tyr302His)
c.1759T>C (p.Tyr587His)
c.1573T>C (p.Tyr525His)
c.1492T>C (p.Tyr498His)
c.1198T>C (p.Tyr400His)
c.1579T>C (p.Tyr527His)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched