Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
2g.48688248T>CCA346746352GTF2A1L,LHCGR,STON1-GTF2A1Lc.1549A>G (p.Met517Val)
c.948-109A>G (n.948-109A>G)
c.3441+16568T>C (n.3441+16568T>C)
c.*293A>G (n.*293A>G)
c.1468A>G (p.Met490Val)
c.276+16568T>C (n.276+16568T>C)
c.*220+5976A>G (n.*220+5976A>G)
c.592A>G (p.Met198Val)
c.619A>G (p.Met207Val)
c.1474A>G (p.Met492Val)
c.1288A>G (p.Met430Val)
c.1207A>G (p.Met403Val)
c.913A>G (p.Met305Val)
c.1294A>G (p.Met432Val)
 gnomAD v4
2g.48688248T>GCA346746347GTF2A1L,LHCGR,STON1-GTF2A1Lc.1549A>C (p.Met517Leu)
c.948-109A>C (n.948-109A>C)
c.3441+16568T>G (n.3441+16568T>G)
c.*293A>C (n.*293A>C)
c.1468A>C (p.Met490Leu)
c.276+16568T>G (n.276+16568T>G)
c.*220+5976A>C (n.*220+5976A>C)
c.592A>C (p.Met198Leu)
c.619A>C (p.Met207Leu)
c.1474A>C (p.Met492Leu)
c.1288A>C (p.Met430Leu)
c.1207A>C (p.Met403Leu)
c.913A>C (p.Met305Leu)
c.1294A>C (p.Met432Leu)
2g.48688249G>ACA426125452GTF2A1L,LHCGR,STON1-GTF2A1Lc.1548C>T (p.Pro516=)
c.948-110C>T (n.948-110C>T)
c.3441+16569G>A (n.3441+16569G>A)
c.*292C>T (n.*292C>T)
c.1467C>T (p.Pro489=)
c.276+16569G>A (n.276+16569G>A)
c.*220+5975C>T (n.*220+5975C>T)
c.591C>T (p.Pro197=)
c.618C>T (p.Pro206=)
c.1473C>T (p.Pro491=)
c.1287C>T (p.Pro429=)
c.1206C>T (p.Pro402=)
c.912C>T (p.Pro304=)
c.1293C>T (p.Pro431=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688249G>CCA426125461GTF2A1L,LHCGR,STON1-GTF2A1Lc.1548C>G (p.Pro516=)
c.948-110C>G (n.948-110C>G)
c.3441+16569G>C (n.3441+16569G>C)
c.*292C>G (n.*292C>G)
c.1467C>G (p.Pro489=)
c.276+16569G>C (n.276+16569G>C)
c.*220+5975C>G (n.*220+5975C>G)
c.591C>G (p.Pro197=)
c.618C>G (p.Pro206=)
c.1473C>G (p.Pro491=)
c.1287C>G (p.Pro429=)
c.1206C>G (p.Pro402=)
c.912C>G (p.Pro304=)
c.1293C>G (p.Pro431=)
2g.48688249G=CA1248601050GTF2A1L,LHCGR,STON1-GTF2A1Lc.1548C= (p.Pro516=)
c.948-110C= (n.948-110C=)
c.3441+16569G= (n.3441+16569G=)
c.*292C= (n.*292C=)
c.1467C= (p.Pro489=)
c.276+16569G= (n.276+16569G=)
c.*220+5975C= (n.*220+5975C=)
c.591C= (p.Pro197=)
c.618C= (p.Pro206=)
c.1473C= (p.Pro491=)
c.1287C= (p.Pro429=)
c.1206C= (p.Pro402=)
c.912C= (p.Pro304=)
c.1293C= (p.Pro431=)
2g.48688249G>TCA426125454GTF2A1L,LHCGR,STON1-GTF2A1Lc.1548C>A (p.Pro516=)
c.948-110C>A (n.948-110C>A)
c.3441+16569G>T (n.3441+16569G>T)
c.*292C>A (n.*292C>A)
c.1467C>A (p.Pro489=)
c.276+16569G>T (n.276+16569G>T)
c.*220+5975C>A (n.*220+5975C>A)
c.591C>A (p.Pro197=)
c.618C>A (p.Pro206=)
c.1473C>A (p.Pro491=)
c.1287C>A (p.Pro429=)
c.1206C>A (p.Pro402=)
c.912C>A (p.Pro304=)
c.1293C>A (p.Pro431=)
2g.48688250G>ACA346746356GTF2A1L,LHCGR,STON1-GTF2A1Lc.1547C>T (p.Pro516Leu)
c.948-111C>T (n.948-111C>T)
c.3441+16570G>A (n.3441+16570G>A)
c.*291C>T (n.*291C>T)
c.1466C>T (p.Pro489Leu)
c.276+16570G>A (n.276+16570G>A)
c.*220+5974C>T (n.*220+5974C>T)
c.590C>T (p.Pro197Leu)
c.617C>T (p.Pro206Leu)
c.1472C>T (p.Pro491Leu)
c.1286C>T (p.Pro429Leu)
c.1205C>T (p.Pro402Leu)
c.911C>T (p.Pro304Leu)
c.1292C>T (p.Pro431Leu)
 gnomAD v4
2g.48688250G>CCA346746358GTF2A1L,LHCGR,STON1-GTF2A1Lc.1547C>G (p.Pro516Arg)
c.948-111C>G (n.948-111C>G)
c.3441+16570G>C (n.3441+16570G>C)
c.*291C>G (n.*291C>G)
c.1466C>G (p.Pro489Arg)
c.276+16570G>C (n.276+16570G>C)
c.*220+5974C>G (n.*220+5974C>G)
c.590C>G (p.Pro197Arg)
c.617C>G (p.Pro206Arg)
c.1472C>G (p.Pro491Arg)
c.1286C>G (p.Pro429Arg)
c.1205C>G (p.Pro402Arg)
c.911C>G (p.Pro304Arg)
c.1292C>G (p.Pro431Arg)
 gnomAD v4
2g.48688250G>TCA346746360GTF2A1L,LHCGR,STON1-GTF2A1Lc.1547C>A (p.Pro516His)
c.948-111C>A (n.948-111C>A)
c.3441+16570G>T (n.3441+16570G>T)
c.*291C>A (n.*291C>A)
c.1466C>A (p.Pro489His)
c.276+16570G>T (n.276+16570G>T)
c.*220+5974C>A (n.*220+5974C>A)
c.590C>A (p.Pro197His)
c.617C>A (p.Pro206His)
c.1472C>A (p.Pro491His)
c.1286C>A (p.Pro429His)
c.1205C>A (p.Pro402His)
c.911C>A (p.Pro304His)
c.1292C>A (p.Pro431His)
2g.48688251G>ACA346746362GTF2A1L,LHCGR,STON1-GTF2A1Lc.1546C>T (p.Pro516Ser)
c.948-112C>T (n.948-112C>T)
c.3441+16571G>A (n.3441+16571G>A)
c.*290C>T (n.*290C>T)
c.1465C>T (p.Pro489Ser)
c.276+16571G>A (n.276+16571G>A)
c.*220+5973C>T (n.*220+5973C>T)
c.589C>T (p.Pro197Ser)
c.616C>T (p.Pro206Ser)
c.1471C>T (p.Pro491Ser)
c.1285C>T (p.Pro429Ser)
c.1204C>T (p.Pro402Ser)
c.910C>T (p.Pro304Ser)
c.1291C>T (p.Pro431Ser)
 gnomAD v4
2g.48688251G>CCA346746364GTF2A1L,LHCGR,STON1-GTF2A1Lc.1546C>G (p.Pro516Ala)
c.948-112C>G (n.948-112C>G)
c.3441+16571G>C (n.3441+16571G>C)
c.*290C>G (n.*290C>G)
c.1465C>G (p.Pro489Ala)
c.276+16571G>C (n.276+16571G>C)
c.*220+5973C>G (n.*220+5973C>G)
c.589C>G (p.Pro197Ala)
c.616C>G (p.Pro206Ala)
c.1471C>G (p.Pro491Ala)
c.1285C>G (p.Pro429Ala)
c.1204C>G (p.Pro402Ala)
c.910C>G (p.Pro304Ala)
c.1291C>G (p.Pro431Ala)
2g.48688251G>TCA346746367GTF2A1L,LHCGR,STON1-GTF2A1Lc.1546C>A (p.Pro516Thr)
c.948-112C>A (n.948-112C>A)
c.3441+16571G>T (n.3441+16571G>T)
c.*290C>A (n.*290C>A)
c.1465C>A (p.Pro489Thr)
c.276+16571G>T (n.276+16571G>T)
c.*220+5973C>A (n.*220+5973C>A)
c.589C>A (p.Pro197Thr)
c.616C>A (p.Pro206Thr)
c.1471C>A (p.Pro491Thr)
c.1285C>A (p.Pro429Thr)
c.1204C>A (p.Pro402Thr)
c.910C>A (p.Pro304Thr)
c.1291C>A (p.Pro431Thr)
2g.48688252G>ACA426125467GTF2A1L,LHCGR,STON1-GTF2A1Lc.1545C>T (p.Phe515=)
c.948-113C>T (n.948-113C>T)
c.3441+16572G>A (n.3441+16572G>A)
c.*289C>T (n.*289C>T)
c.1464C>T (p.Phe488=)
c.276+16572G>A (n.276+16572G>A)
c.*220+5972C>T (n.*220+5972C>T)
c.588C>T (p.Phe196=)
c.615C>T (p.Phe205=)
c.1470C>T (p.Phe490=)
c.1284C>T (p.Phe428=)
c.1203C>T (p.Phe401=)
c.909C>T (p.Phe303=)
c.1290C>T (p.Phe430=)
2g.48688252G>CCA346746371GTF2A1L,LHCGR,STON1-GTF2A1Lc.1545C>G (p.Phe515Leu)
c.948-113C>G (n.948-113C>G)
c.3441+16572G>C (n.3441+16572G>C)
c.*289C>G (n.*289C>G)
c.1464C>G (p.Phe488Leu)
c.276+16572G>C (n.276+16572G>C)
c.*220+5972C>G (n.*220+5972C>G)
c.588C>G (p.Phe196Leu)
c.615C>G (p.Phe205Leu)
c.1470C>G (p.Phe490Leu)
c.1284C>G (p.Phe428Leu)
c.1203C>G (p.Phe401Leu)
c.909C>G (p.Phe303Leu)
c.1290C>G (p.Phe430Leu)
2g.48688252G>TCA346746372GTF2A1L,LHCGR,STON1-GTF2A1Lc.1545C>A (p.Phe515Leu)
c.948-113C>A (n.948-113C>A)
c.3441+16572G>T (n.3441+16572G>T)
c.*289C>A (n.*289C>A)
c.1464C>A (p.Phe488Leu)
c.276+16572G>T (n.276+16572G>T)
c.*220+5972C>A (n.*220+5972C>A)
c.588C>A (p.Phe196Leu)
c.615C>A (p.Phe205Leu)
c.1470C>A (p.Phe490Leu)
c.1284C>A (p.Phe428Leu)
c.1203C>A (p.Phe401Leu)
c.909C>A (p.Phe303Leu)
c.1290C>A (p.Phe430Leu)
2g.48688253A>CCA346746375GTF2A1L,LHCGR,STON1-GTF2A1Lc.1544T>G (p.Phe515Cys)
c.948-114T>G (n.948-114T>G)
c.3441+16573A>C (n.3441+16573A>C)
c.*288T>G (n.*288T>G)
c.1463T>G (p.Phe488Cys)
c.276+16573A>C (n.276+16573A>C)
c.*220+5971T>G (n.*220+5971T>G)
c.587T>G (p.Phe196Cys)
c.614T>G (p.Phe205Cys)
c.1469T>G (p.Phe490Cys)
c.1283T>G (p.Phe428Cys)
c.1202T>G (p.Phe401Cys)
c.908T>G (p.Phe303Cys)
c.1289T>G (p.Phe430Cys)
2g.48688253A>GCA346746376GTF2A1L,LHCGR,STON1-GTF2A1Lc.1544T>C (p.Phe515Ser)
c.948-114T>C (n.948-114T>C)
c.3441+16573A>G (n.3441+16573A>G)
c.*288T>C (n.*288T>C)
c.1463T>C (p.Phe488Ser)
c.276+16573A>G (n.276+16573A>G)
c.*220+5971T>C (n.*220+5971T>C)
c.587T>C (p.Phe196Ser)
c.614T>C (p.Phe205Ser)
c.1469T>C (p.Phe490Ser)
c.1283T>C (p.Phe428Ser)
c.1202T>C (p.Phe401Ser)
c.908T>C (p.Phe303Ser)
c.1289T>C (p.Phe430Ser)
 gnomAD v4
2g.48688253A>TCA346746377GTF2A1L,LHCGR,STON1-GTF2A1Lc.1544T>A (p.Phe515Tyr)
c.948-114T>A (n.948-114T>A)
c.3441+16573A>T (n.3441+16573A>T)
c.*288T>A (n.*288T>A)
c.1463T>A (p.Phe488Tyr)
c.276+16573A>T (n.276+16573A>T)
c.*220+5971T>A (n.*220+5971T>A)
c.587T>A (p.Phe196Tyr)
c.614T>A (p.Phe205Tyr)
c.1469T>A (p.Phe490Tyr)
c.1283T>A (p.Phe428Tyr)
c.1202T>A (p.Phe401Tyr)
c.908T>A (p.Phe303Tyr)
c.1289T>A (p.Phe430Tyr)
 gnomAD v4
2g.48688254A>CCA346746379GTF2A1L,LHCGR,STON1-GTF2A1Lc.1543T>G (p.Phe515Val)
c.948-115T>G (n.948-115T>G)
c.3441+16574A>C (n.3441+16574A>C)
c.*287T>G (n.*287T>G)
c.1462T>G (p.Phe488Val)
c.276+16574A>C (n.276+16574A>C)
c.*220+5970T>G (n.*220+5970T>G)
c.586T>G (p.Phe196Val)
c.613T>G (p.Phe205Val)
c.1468T>G (p.Phe490Val)
c.1282T>G (p.Phe428Val)
c.1201T>G (p.Phe401Val)
c.907T>G (p.Phe303Val)
c.1288T>G (p.Phe430Val)
2g.48688254A>GCA346746380GTF2A1L,LHCGR,STON1-GTF2A1Lc.1543T>C (p.Phe515Leu)
c.948-115T>C (n.948-115T>C)
c.3441+16574A>G (n.3441+16574A>G)
c.*287T>C (n.*287T>C)
c.1462T>C (p.Phe488Leu)
c.276+16574A>G (n.276+16574A>G)
c.*220+5970T>C (n.*220+5970T>C)
c.586T>C (p.Phe196Leu)
c.613T>C (p.Phe205Leu)
c.1468T>C (p.Phe490Leu)
c.1282T>C (p.Phe428Leu)
c.1201T>C (p.Phe401Leu)
c.907T>C (p.Phe303Leu)
c.1288T>C (p.Phe430Leu)
2g.48688254A>TCA346746388GTF2A1L,LHCGR,STON1-GTF2A1Lc.1543T>A (p.Phe515Ile)
c.948-115T>A (n.948-115T>A)
c.3441+16574A>T (n.3441+16574A>T)
c.*287T>A (n.*287T>A)
c.1462T>A (p.Phe488Ile)
c.276+16574A>T (n.276+16574A>T)
c.*220+5970T>A (n.*220+5970T>A)
c.586T>A (p.Phe196Ile)
c.613T>A (p.Phe205Ile)
c.1468T>A (p.Phe490Ile)
c.1282T>A (p.Phe428Ile)
c.1201T>A (p.Phe401Ile)
c.907T>A (p.Phe303Ile)
c.1288T>A (p.Phe430Ile)
2g.48688255G>ACA426125478GTF2A1L,LHCGR,STON1-GTF2A1Lc.1542C>T (p.Cys514=)
c.948-116C>T (n.948-116C>T)
c.3441+16575G>A (n.3441+16575G>A)
c.*286C>T (n.*286C>T)
c.1461C>T (p.Cys487=)
c.276+16575G>A (n.276+16575G>A)
c.*220+5969C>T (n.*220+5969C>T)
c.585C>T (p.Cys195=)
c.612C>T (p.Cys204=)
c.1467C>T (p.Cys489=)
c.1281C>T (p.Cys427=)
c.1200C>T (p.Cys400=)
c.906C>T (p.Cys302=)
c.1287C>T (p.Cys429=)
 dbSNP COSMIC
2g.48688255G>CCA346746395GTF2A1L,LHCGR,STON1-GTF2A1Lc.1542C>G (p.Cys514Trp)
c.948-116C>G (n.948-116C>G)
c.3441+16575G>C (n.3441+16575G>C)
c.*286C>G (n.*286C>G)
c.1461C>G (p.Cys487Trp)
c.276+16575G>C (n.276+16575G>C)
c.*220+5969C>G (n.*220+5969C>G)
c.585C>G (p.Cys195Trp)
c.612C>G (p.Cys204Trp)
c.1467C>G (p.Cys489Trp)
c.1281C>G (p.Cys427Trp)
c.1200C>G (p.Cys400Trp)
c.906C>G (p.Cys302Trp)
c.1287C>G (p.Cys429Trp)
2g.48688255G=CA1248601051GTF2A1L,LHCGR,STON1-GTF2A1Lc.1542C= (p.Cys514=)
c.948-116C= (n.948-116C=)
c.3441+16575G= (n.3441+16575G=)
c.*286C= (n.*286C=)
c.1461C= (p.Cys487=)
c.276+16575G= (n.276+16575G=)
c.*220+5969C= (n.*220+5969C=)
c.585C= (p.Cys195=)
c.612C= (p.Cys204=)
c.1467C= (p.Cys489=)
c.1281C= (p.Cys427=)
c.1200C= (p.Cys400=)
c.906C= (p.Cys302=)
c.1287C= (p.Cys429=)
2g.48688255G>TCA346746392GTF2A1L,LHCGR,STON1-GTF2A1Lc.1542C>A (p.Cys514Ter)
c.948-116C>A (n.948-116C>A)
c.3441+16575G>T (n.3441+16575G>T)
c.*286C>A (n.*286C>A)
c.1461C>A (p.Cys487Ter)
c.276+16575G>T (n.276+16575G>T)
c.*220+5969C>A (n.*220+5969C>A)
c.585C>A (p.Cys195Ter)
c.612C>A (p.Cys204Ter)
c.1467C>A (p.Cys489Ter)
c.1281C>A (p.Cys427Ter)
c.1200C>A (p.Cys400Ter)
c.906C>A (p.Cys302Ter)
c.1287C>A (p.Cys429Ter)
2g.48688256C>ACA346746402GTF2A1L,LHCGR,STON1-GTF2A1Lc.1541G>T (p.Cys514Phe)
c.948-117G>T (n.948-117G>T)
c.3441+16576C>A (n.3441+16576C>A)
c.*285G>T (n.*285G>T)
c.1460G>T (p.Cys487Phe)
c.276+16576C>A (n.276+16576C>A)
c.*220+5968G>T (n.*220+5968G>T)
c.584G>T (p.Cys195Phe)
c.611G>T (p.Cys204Phe)
c.1466G>T (p.Cys489Phe)
c.1280G>T (p.Cys427Phe)
c.1199G>T (p.Cys400Phe)
c.905G>T (p.Cys302Phe)
c.1286G>T (p.Cys429Phe)
2g.48688256C>GCA346746408GTF2A1L,LHCGR,STON1-GTF2A1Lc.1541G>C (p.Cys514Ser)
c.948-117G>C (n.948-117G>C)
c.3441+16576C>G (n.3441+16576C>G)
c.*285G>C (n.*285G>C)
c.1460G>C (p.Cys487Ser)
c.276+16576C>G (n.276+16576C>G)
c.*220+5968G>C (n.*220+5968G>C)
c.584G>C (p.Cys195Ser)
c.611G>C (p.Cys204Ser)
c.1466G>C (p.Cys489Ser)
c.1280G>C (p.Cys427Ser)
c.1199G>C (p.Cys400Ser)
c.905G>C (p.Cys302Ser)
c.1286G>C (p.Cys429Ser)
 gnomAD v4
2g.48688256C>TCA346746404GTF2A1L,LHCGR,STON1-GTF2A1Lc.1541G>A (p.Cys514Tyr)
c.948-117G>A (n.948-117G>A)
c.3441+16576C>T (n.3441+16576C>T)
c.*285G>A (n.*285G>A)
c.1460G>A (p.Cys487Tyr)
c.276+16576C>T (n.276+16576C>T)
c.*220+5968G>A (n.*220+5968G>A)
c.584G>A (p.Cys195Tyr)
c.611G>A (p.Cys204Tyr)
c.1466G>A (p.Cys489Tyr)
c.1280G>A (p.Cys427Tyr)
c.1199G>A (p.Cys400Tyr)
c.905G>A (p.Cys302Tyr)
c.1286G>A (p.Cys429Tyr)
2g.48688257A>CCA346746412GTF2A1L,LHCGR,STON1-GTF2A1Lc.1540T>G (p.Cys514Gly)
c.948-118T>G (n.948-118T>G)
c.3441+16577A>C (n.3441+16577A>C)
c.*284T>G (n.*284T>G)
c.1459T>G (p.Cys487Gly)
c.276+16577A>C (n.276+16577A>C)
c.*220+5967T>G (n.*220+5967T>G)
c.583T>G (p.Cys195Gly)
c.610T>G (p.Cys204Gly)
c.1465T>G (p.Cys489Gly)
c.1279T>G (p.Cys427Gly)
c.1198T>G (p.Cys400Gly)
c.904T>G (p.Cys302Gly)
c.1285T>G (p.Cys429Gly)
 gnomAD v4
2g.48688257A>GCA346746416GTF2A1L,LHCGR,STON1-GTF2A1Lc.1540T>C (p.Cys514Arg)
c.948-118T>C (n.948-118T>C)
c.3441+16577A>G (n.3441+16577A>G)
c.*284T>C (n.*284T>C)
c.1459T>C (p.Cys487Arg)
c.276+16577A>G (n.276+16577A>G)
c.*220+5967T>C (n.*220+5967T>C)
c.583T>C (p.Cys195Arg)
c.610T>C (p.Cys204Arg)
c.1465T>C (p.Cys489Arg)
c.1279T>C (p.Cys427Arg)
c.1198T>C (p.Cys400Arg)
c.904T>C (p.Cys302Arg)
c.1285T>C (p.Cys429Arg)
2g.48688257A>TCA346746418GTF2A1L,LHCGR,STON1-GTF2A1Lc.1540T>A (p.Cys514Ser)
c.948-118T>A (n.948-118T>A)
c.3441+16577A>T (n.3441+16577A>T)
c.*284T>A (n.*284T>A)
c.1459T>A (p.Cys487Ser)
c.276+16577A>T (n.276+16577A>T)
c.*220+5967T>A (n.*220+5967T>A)
c.583T>A (p.Cys195Ser)
c.610T>A (p.Cys204Ser)
c.1465T>A (p.Cys489Ser)
c.1279T>A (p.Cys427Ser)
c.1198T>A (p.Cys400Ser)
c.904T>A (p.Cys302Ser)
c.1285T>A (p.Cys429Ser)
2g.48688258A>CCA346746421GTF2A1L,LHCGR,STON1-GTF2A1Lc.1539T>G (p.Ile513Met)
c.948-119T>G (n.948-119T>G)
c.3441+16578A>C (n.3441+16578A>C)
c.*283T>G (n.*283T>G)
c.1458T>G (p.Ile486Met)
c.276+16578A>C (n.276+16578A>C)
c.*220+5966T>G (n.*220+5966T>G)
c.582T>G (p.Ile194Met)
c.609T>G (p.Ile203Met)
c.1464T>G (p.Ile488Met)
c.1278T>G (p.Ile426Met)
c.1197T>G (p.Ile399Met)
c.903T>G (p.Ile301Met)
c.1284T>G (p.Ile428Met)
2g.48688258A>GCA426125497GTF2A1L,LHCGR,STON1-GTF2A1Lc.1539T>C (p.Ile513=)
c.948-119T>C (n.948-119T>C)
c.3441+16578A>G (n.3441+16578A>G)
c.*283T>C (n.*283T>C)
c.1458T>C (p.Ile486=)
c.276+16578A>G (n.276+16578A>G)
c.*220+5966T>C (n.*220+5966T>C)
c.582T>C (p.Ile194=)
c.609T>C (p.Ile203=)
c.1464T>C (p.Ile488=)
c.1278T>C (p.Ile426=)
c.1197T>C (p.Ile399=)
c.903T>C (p.Ile301=)
c.1284T>C (p.Ile428=)
2g.48688258A>TCA426125492GTF2A1L,LHCGR,STON1-GTF2A1Lc.1539T>A (p.Ile513=)
c.948-119T>A (n.948-119T>A)
c.3441+16578A>T (n.3441+16578A>T)
c.*283T>A (n.*283T>A)
c.1458T>A (p.Ile486=)
c.276+16578A>T (n.276+16578A>T)
c.*220+5966T>A (n.*220+5966T>A)
c.582T>A (p.Ile194=)
c.609T>A (p.Ile203=)
c.1464T>A (p.Ile488=)
c.1278T>A (p.Ile426=)
c.1197T>A (p.Ile399=)
c.903T>A (p.Ile301=)
c.1284T>A (p.Ile428=)
 gnomAD v4
2g.48688258_48688259insTCA2749836836GTF2A1L,LHCGR,STON1-GTF2A1Lc.1538_1539insA (p.Cys514LeufsTer?)
c.948-120_948-119insA (n.948-120_948-119insA)
c.3441+16578_3441+16579insT (n.3441+16578_3441+16579insT)
c.*282_*283insA (n.*282_*283insA)
c.1457_1458insA (p.Cys487LeufsTer?)
c.276+16578_276+16579insT (n.276+16578_276+16579insT)
c.*220+5965_*220+5966insA (n.*220+5965_*220+5966insA)
c.581_582insA (p.Cys195LeufsTer?)
c.608_609insA (p.Cys204LeufsTer?)
c.1463_1464insA (p.Cys489LeufsTer?)
c.1277_1278insA (p.Cys427LeufsTer?)
c.1196_1197insA (p.Cys400LeufsTer?)
c.902_903insA (p.Cys302LeufsTer?)
c.1283_1284insA (p.Cys429LeufsTer?)
2g.48688259A>CCA346746423GTF2A1L,LHCGR,STON1-GTF2A1Lc.1538T>G (p.Ile513Ser)
c.948-120T>G (n.948-120T>G)
c.3441+16579A>C (n.3441+16579A>C)
c.*282T>G (n.*282T>G)
c.1457T>G (p.Ile486Ser)
c.276+16579A>C (n.276+16579A>C)
c.*220+5965T>G (n.*220+5965T>G)
c.581T>G (p.Ile194Ser)
c.608T>G (p.Ile203Ser)
c.1463T>G (p.Ile488Ser)
c.1277T>G (p.Ile426Ser)
c.1196T>G (p.Ile399Ser)
c.902T>G (p.Ile301Ser)
c.1283T>G (p.Ile428Ser)
2g.48688259A>GCA346746424GTF2A1L,LHCGR,STON1-GTF2A1Lc.1538T>C (p.Ile513Thr)
c.948-120T>C (n.948-120T>C)
c.3441+16579A>G (n.3441+16579A>G)
c.*282T>C (n.*282T>C)
c.1457T>C (p.Ile486Thr)
c.276+16579A>G (n.276+16579A>G)
c.*220+5965T>C (n.*220+5965T>C)
c.581T>C (p.Ile194Thr)
c.608T>C (p.Ile203Thr)
c.1463T>C (p.Ile488Thr)
c.1277T>C (p.Ile426Thr)
c.1196T>C (p.Ile399Thr)
c.902T>C (p.Ile301Thr)
c.1283T>C (p.Ile428Thr)
2g.48688259A>TCA346746425GTF2A1L,LHCGR,STON1-GTF2A1Lc.1538T>A (p.Ile513Asn)
c.948-120T>A (n.948-120T>A)
c.3441+16579A>T (n.3441+16579A>T)
c.*282T>A (n.*282T>A)
c.1457T>A (p.Ile486Asn)
c.276+16579A>T (n.276+16579A>T)
c.*220+5965T>A (n.*220+5965T>A)
c.581T>A (p.Ile194Asn)
c.608T>A (p.Ile203Asn)
c.1463T>A (p.Ile488Asn)
c.1277T>A (p.Ile426Asn)
c.1196T>A (p.Ile399Asn)
c.902T>A (p.Ile301Asn)
c.1283T>A (p.Ile428Asn)
 gnomAD v4
2g.48688260T>ACA346746426GTF2A1L,LHCGR,STON1-GTF2A1Lc.1537A>T (p.Ile513Phe)
c.948-121A>T (n.948-121A>T)
c.3441+16580T>A (n.3441+16580T>A)
c.*281A>T (n.*281A>T)
c.1456A>T (p.Ile486Phe)
c.276+16580T>A (n.276+16580T>A)
c.*220+5964A>T (n.*220+5964A>T)
c.580A>T (p.Ile194Phe)
c.607A>T (p.Ile203Phe)
c.1462A>T (p.Ile488Phe)
c.1276A>T (p.Ile426Phe)
c.1195A>T (p.Ile399Phe)
c.901A>T (p.Ile301Phe)
c.1282A>T (p.Ile428Phe)
2g.48688260T>CCA346746427GTF2A1L,LHCGR,STON1-GTF2A1Lc.1537A>G (p.Ile513Val)
c.948-121A>G (n.948-121A>G)
c.3441+16580T>C (n.3441+16580T>C)
c.*281A>G (n.*281A>G)
c.1456A>G (p.Ile486Val)
c.276+16580T>C (n.276+16580T>C)
c.*220+5964A>G (n.*220+5964A>G)
c.580A>G (p.Ile194Val)
c.607A>G (p.Ile203Val)
c.1462A>G (p.Ile488Val)
c.1276A>G (p.Ile426Val)
c.1195A>G (p.Ile399Val)
c.901A>G (p.Ile301Val)
c.1282A>G (p.Ile428Val)
2g.48688260T>GCA346746430GTF2A1L,LHCGR,STON1-GTF2A1Lc.1537A>C (p.Ile513Leu)
c.948-121A>C (n.948-121A>C)
c.3441+16580T>G (n.3441+16580T>G)
c.*281A>C (n.*281A>C)
c.1456A>C (p.Ile486Leu)
c.276+16580T>G (n.276+16580T>G)
c.*220+5964A>C (n.*220+5964A>C)
c.580A>C (p.Ile194Leu)
c.607A>C (p.Ile203Leu)
c.1462A>C (p.Ile488Leu)
c.1276A>C (p.Ile426Leu)
c.1195A>C (p.Ile399Leu)
c.901A>C (p.Ile301Leu)
c.1282A>C (p.Ile428Leu)
2g.48688261A=CA1248601052GTF2A1L,LHCGR,STON1-GTF2A1Lc.1536T= (p.Ser512=)
c.948-122T= (n.948-122T=)
c.3441+16581A= (n.3441+16581A=)
c.*280T= (n.*280T=)
c.1455T= (p.Ser485=)
c.276+16581A= (n.276+16581A=)
c.*220+5963T= (n.*220+5963T=)
c.579T= (p.Ser193=)
c.606T= (p.Ser202=)
c.1461T= (p.Ser487=)
c.1275T= (p.Ser425=)
c.1194T= (p.Ser398=)
c.900T= (p.Ser300=)
c.1281T= (p.Ser427=)
2g.48688261A>CCA346746432GTF2A1L,LHCGR,STON1-GTF2A1Lc.1536T>G (p.Ser512Arg)
c.948-122T>G (n.948-122T>G)
c.3441+16581A>C (n.3441+16581A>C)
c.*280T>G (n.*280T>G)
c.1455T>G (p.Ser485Arg)
c.276+16581A>C (n.276+16581A>C)
c.*220+5963T>G (n.*220+5963T>G)
c.579T>G (p.Ser193Arg)
c.606T>G (p.Ser202Arg)
c.1461T>G (p.Ser487Arg)
c.1275T>G (p.Ser425Arg)
c.1194T>G (p.Ser398Arg)
c.900T>G (p.Ser300Arg)
c.1281T>G (p.Ser427Arg)
2g.48688261A>GCA1653019GTF2A1L,LHCGR,STON1-GTF2A1Lc.1536T>C (p.Ser512=)
c.948-122T>C (n.948-122T>C)
c.3441+16581A>G (n.3441+16581A>G)
c.*280T>C (n.*280T>C)
c.1455T>C (p.Ser485=)
c.276+16581A>G (n.276+16581A>G)
c.*220+5963T>C (n.*220+5963T>C)
c.579T>C (p.Ser193=)
c.606T>C (p.Ser202=)
c.1461T>C (p.Ser487=)
c.1275T>C (p.Ser425=)
c.1194T>C (p.Ser398=)
c.900T>C (p.Ser300=)
c.1281T>C (p.Ser427=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688261A>TCA346746435GTF2A1L,LHCGR,STON1-GTF2A1Lc.1536T>A (p.Ser512Arg)
c.948-122T>A (n.948-122T>A)
c.3441+16581A>T (n.3441+16581A>T)
c.*280T>A (n.*280T>A)
c.1455T>A (p.Ser485Arg)
c.276+16581A>T (n.276+16581A>T)
c.*220+5963T>A (n.*220+5963T>A)
c.579T>A (p.Ser193Arg)
c.606T>A (p.Ser202Arg)
c.1461T>A (p.Ser487Arg)
c.1275T>A (p.Ser425Arg)
c.1194T>A (p.Ser398Arg)
c.900T>A (p.Ser300Arg)
c.1281T>A (p.Ser427Arg)
2g.48688262C>ACA346746441GTF2A1L,LHCGR,STON1-GTF2A1Lc.1535G>T (p.Ser512Ile)
c.948-123G>T (n.948-123G>T)
c.3441+16582C>A (n.3441+16582C>A)
c.*279G>T (n.*279G>T)
c.1454G>T (p.Ser485Ile)
c.276+16582C>A (n.276+16582C>A)
c.*220+5962G>T (n.*220+5962G>T)
c.578G>T (p.Ser193Ile)
c.605G>T (p.Ser202Ile)
c.1460G>T (p.Ser487Ile)
c.1274G>T (p.Ser425Ile)
c.1193G>T (p.Ser398Ile)
c.899G>T (p.Ser300Ile)
c.1280G>T (p.Ser427Ile)
2g.48688262C>GCA346746437GTF2A1L,LHCGR,STON1-GTF2A1Lc.1535G>C (p.Ser512Thr)
c.948-123G>C (n.948-123G>C)
c.3441+16582C>G (n.3441+16582C>G)
c.*279G>C (n.*279G>C)
c.1454G>C (p.Ser485Thr)
c.276+16582C>G (n.276+16582C>G)
c.*220+5962G>C (n.*220+5962G>C)
c.578G>C (p.Ser193Thr)
c.605G>C (p.Ser202Thr)
c.1460G>C (p.Ser487Thr)
c.1274G>C (p.Ser425Thr)
c.1193G>C (p.Ser398Thr)
c.899G>C (p.Ser300Thr)
c.1280G>C (p.Ser427Thr)
2g.48688262C>TCA346746439GTF2A1L,LHCGR,STON1-GTF2A1Lc.1535G>A (p.Ser512Asn)
c.948-123G>A (n.948-123G>A)
c.3441+16582C>T (n.3441+16582C>T)
c.*279G>A (n.*279G>A)
c.1454G>A (p.Ser485Asn)
c.276+16582C>T (n.276+16582C>T)
c.*220+5962G>A (n.*220+5962G>A)
c.578G>A (p.Ser193Asn)
c.605G>A (p.Ser202Asn)
c.1460G>A (p.Ser487Asn)
c.1274G>A (p.Ser425Asn)
c.1193G>A (p.Ser398Asn)
c.899G>A (p.Ser300Asn)
c.1280G>A (p.Ser427Asn)
2g.48688263T>ACA346746445GTF2A1L,LHCGR,STON1-GTF2A1Lc.1534A>T (p.Ser512Cys)
c.948-124A>T (n.948-124A>T)
c.3441+16583T>A (n.3441+16583T>A)
c.*278A>T (n.*278A>T)
c.1453A>T (p.Ser485Cys)
c.276+16583T>A (n.276+16583T>A)
c.*220+5961A>T (n.*220+5961A>T)
c.577A>T (p.Ser193Cys)
c.604A>T (p.Ser202Cys)
c.1459A>T (p.Ser487Cys)
c.1273A>T (p.Ser425Cys)
c.1192A>T (p.Ser398Cys)
c.898A>T (p.Ser300Cys)
c.1279A>T (p.Ser427Cys)
 COSMIC
2g.48688263T>CCA346746446GTF2A1L,LHCGR,STON1-GTF2A1Lc.1534A>G (p.Ser512Gly)
c.948-124A>G (n.948-124A>G)
c.3441+16583T>C (n.3441+16583T>C)
c.*278A>G (n.*278A>G)
c.1453A>G (p.Ser485Gly)
c.276+16583T>C (n.276+16583T>C)
c.*220+5961A>G (n.*220+5961A>G)
c.577A>G (p.Ser193Gly)
c.604A>G (p.Ser202Gly)
c.1459A>G (p.Ser487Gly)
c.1273A>G (p.Ser425Gly)
c.1192A>G (p.Ser398Gly)
c.898A>G (p.Ser300Gly)
c.1279A>G (p.Ser427Gly)
2g.48688263T>GCA346746450GTF2A1L,LHCGR,STON1-GTF2A1Lc.1534A>C (p.Ser512Arg)
c.948-124A>C (n.948-124A>C)
c.3441+16583T>G (n.3441+16583T>G)
c.*278A>C (n.*278A>C)
c.1453A>C (p.Ser485Arg)
c.276+16583T>G (n.276+16583T>G)
c.*220+5961A>C (n.*220+5961A>C)
c.577A>C (p.Ser193Arg)
c.604A>C (p.Ser202Arg)
c.1459A>C (p.Ser487Arg)
c.1273A>C (p.Ser425Arg)
c.1192A>C (p.Ser398Arg)
c.898A>C (p.Ser300Arg)
c.1279A>C (p.Ser427Arg)
2g.48688264G>ACA426124932GTF2A1L,LHCGR,STON1-GTF2A1Lc.1533C>T (p.Val511=)
c.948-125C>T (n.948-125C>T)
c.3441+16584G>A (n.3441+16584G>A)
c.*277C>T (n.*277C>T)
c.1452C>T (p.Val484=)
c.276+16584G>A (n.276+16584G>A)
c.*220+5960C>T (n.*220+5960C>T)
c.576C>T (p.Val192=)
c.603C>T (p.Val201=)
c.1458C>T (p.Val486=)
c.1272C>T (p.Val424=)
c.1191C>T (p.Val397=)
c.897C>T (p.Val299=)
c.1278C>T (p.Val426=)
2g.48688264G>CCA426124933GTF2A1L,LHCGR,STON1-GTF2A1Lc.1533C>G (p.Val511=)
c.948-125C>G (n.948-125C>G)
c.3441+16584G>C (n.3441+16584G>C)
c.*277C>G (n.*277C>G)
c.1452C>G (p.Val484=)
c.276+16584G>C (n.276+16584G>C)
c.*220+5960C>G (n.*220+5960C>G)
c.576C>G (p.Val192=)
c.603C>G (p.Val201=)
c.1458C>G (p.Val486=)
c.1272C>G (p.Val424=)
c.1191C>G (p.Val397=)
c.897C>G (p.Val299=)
c.1278C>G (p.Val426=)
 dbSNP
2g.48688264G>TCA426124934GTF2A1L,LHCGR,STON1-GTF2A1Lc.1533C>A (p.Val511=)
c.948-125C>A (n.948-125C>A)
c.3441+16584G>T (n.3441+16584G>T)
c.*277C>A (n.*277C>A)
c.1452C>A (p.Val484=)
c.276+16584G>T (n.276+16584G>T)
c.*220+5960C>A (n.*220+5960C>A)
c.576C>A (p.Val192=)
c.603C>A (p.Val201=)
c.1458C>A (p.Val486=)
c.1272C>A (p.Val424=)
c.1191C>A (p.Val397=)
c.897C>A (p.Val299=)
c.1278C>A (p.Val426=)
2g.48688265A=CA1248601053GTF2A1L,LHCGR,STON1-GTF2A1Lc.1532T= (p.Val511=)
c.948-126T= (n.948-126T=)
c.3441+16585A= (n.3441+16585A=)
c.*276T= (n.*276T=)
c.1451T= (p.Val484=)
c.276+16585A= (n.276+16585A=)
c.*220+5959T= (n.*220+5959T=)
c.575T= (p.Val192=)
c.602T= (p.Val201=)
c.1457T= (p.Val486=)
c.1271T= (p.Val424=)
c.1190T= (p.Val397=)
c.896T= (p.Val299=)
c.1277T= (p.Val426=)
2g.48688265A>CCA346746457GTF2A1L,LHCGR,STON1-GTF2A1Lc.1532T>G (p.Val511Gly)
c.948-126T>G (n.948-126T>G)
c.3441+16585A>C (n.3441+16585A>C)
c.*276T>G (n.*276T>G)
c.1451T>G (p.Val484Gly)
c.276+16585A>C (n.276+16585A>C)
c.*220+5959T>G (n.*220+5959T>G)
c.575T>G (p.Val192Gly)
c.602T>G (p.Val201Gly)
c.1457T>G (p.Val486Gly)
c.1271T>G (p.Val424Gly)
c.1190T>G (p.Val397Gly)
c.896T>G (p.Val299Gly)
c.1277T>G (p.Val426Gly)
2g.48688265A>GCA346746459GTF2A1L,LHCGR,STON1-GTF2A1Lc.1532T>C (p.Val511Ala)
c.948-126T>C (n.948-126T>C)
c.3441+16585A>G (n.3441+16585A>G)
c.*276T>C (n.*276T>C)
c.1451T>C (p.Val484Ala)
c.276+16585A>G (n.276+16585A>G)
c.*220+5959T>C (n.*220+5959T>C)
c.575T>C (p.Val192Ala)
c.602T>C (p.Val201Ala)
c.1457T>C (p.Val486Ala)
c.1271T>C (p.Val424Ala)
c.1190T>C (p.Val397Ala)
c.896T>C (p.Val299Ala)
c.1277T>C (p.Val426Ala)
2g.48688265A>TCA346746460GTF2A1L,LHCGR,STON1-GTF2A1Lc.1532T>A (p.Val511Asp)
c.948-126T>A (n.948-126T>A)
c.3441+16585A>T (n.3441+16585A>T)
c.*276T>A (n.*276T>A)
c.1451T>A (p.Val484Asp)
c.276+16585A>T (n.276+16585A>T)
c.*220+5959T>A (n.*220+5959T>A)
c.575T>A (p.Val192Asp)
c.602T>A (p.Val201Asp)
c.1457T>A (p.Val486Asp)
c.1271T>A (p.Val424Asp)
c.1190T>A (p.Val397Asp)
c.896T>A (p.Val299Asp)
c.1277T>A (p.Val426Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.48688266C>ACA346746463GTF2A1L,LHCGR,STON1-GTF2A1Lc.1531G>T (p.Val511Phe)
c.948-127G>T (n.948-127G>T)
c.3441+16586C>A (n.3441+16586C>A)
c.*275G>T (n.*275G>T)
c.1450G>T (p.Val484Phe)
c.276+16586C>A (n.276+16586C>A)
c.*220+5958G>T (n.*220+5958G>T)
c.574G>T (p.Val192Phe)
c.601G>T (p.Val201Phe)
c.1456G>T (p.Val486Phe)
c.1270G>T (p.Val424Phe)
c.1189G>T (p.Val397Phe)
c.895G>T (p.Val299Phe)
c.1276G>T (p.Val426Phe)
2g.48688266C>GCA346746472GTF2A1L,LHCGR,STON1-GTF2A1Lc.1531G>C (p.Val511Leu)
c.948-127G>C (n.948-127G>C)
c.3441+16586C>G (n.3441+16586C>G)
c.*275G>C (n.*275G>C)
c.1450G>C (p.Val484Leu)
c.276+16586C>G (n.276+16586C>G)
c.*220+5958G>C (n.*220+5958G>C)
c.574G>C (p.Val192Leu)
c.601G>C (p.Val201Leu)
c.1456G>C (p.Val486Leu)
c.1270G>C (p.Val424Leu)
c.1189G>C (p.Val397Leu)
c.895G>C (p.Val299Leu)
c.1276G>C (p.Val426Leu)
2g.48688266C>TCA346746474GTF2A1L,LHCGR,STON1-GTF2A1Lc.1531G>A (p.Val511Ile)
c.948-127G>A (n.948-127G>A)
c.3441+16586C>T (n.3441+16586C>T)
c.*275G>A (n.*275G>A)
c.1450G>A (p.Val484Ile)
c.276+16586C>T (n.276+16586C>T)
c.*220+5958G>A (n.*220+5958G>A)
c.574G>A (p.Val192Ile)
c.601G>A (p.Val201Ile)
c.1456G>A (p.Val486Ile)
c.1270G>A (p.Val424Ile)
c.1189G>A (p.Val397Ile)
c.895G>A (p.Val299Ile)
c.1276G>A (p.Val426Ile)
 gnomAD v4
2g.48688267C>ACA346746477GTF2A1L,LHCGR,STON1-GTF2A1Lc.1530G>T (p.Lys510Asn)
c.948-128G>T (n.948-128G>T)
c.3441+16587C>A (n.3441+16587C>A)
c.*274G>T (n.*274G>T)
c.1449G>T (p.Lys483Asn)
c.276+16587C>A (n.276+16587C>A)
c.*220+5957G>T (n.*220+5957G>T)
c.573G>T (p.Lys191Asn)
c.600G>T (p.Lys200Asn)
c.1455G>T (p.Lys485Asn)
c.1269G>T (p.Lys423Asn)
c.1188G>T (p.Lys396Asn)
c.894G>T (p.Lys298Asn)
c.1275G>T (p.Lys425Asn)
 gnomAD v4
2g.48688267C=CA1248601054GTF2A1L,LHCGR,STON1-GTF2A1Lc.1530G= (p.Lys510=)
c.948-128G= (n.948-128G=)
c.3441+16587C= (n.3441+16587C=)
c.*274G= (n.*274G=)
c.1449G= (p.Lys483=)
c.276+16587C= (n.276+16587C=)
c.*220+5957G= (n.*220+5957G=)
c.573G= (p.Lys191=)
c.600G= (p.Lys200=)
c.1455G= (p.Lys485=)
c.1269G= (p.Lys423=)
c.1188G= (p.Lys396=)
c.894G= (p.Lys298=)
c.1275G= (p.Lys425=)
2g.48688267C>GCA346746478GTF2A1L,LHCGR,STON1-GTF2A1Lc.1530G>C (p.Lys510Asn)
c.948-128G>C (n.948-128G>C)
c.3441+16587C>G (n.3441+16587C>G)
c.*274G>C (n.*274G>C)
c.1449G>C (p.Lys483Asn)
c.276+16587C>G (n.276+16587C>G)
c.*220+5957G>C (n.*220+5957G>C)
c.573G>C (p.Lys191Asn)
c.600G>C (p.Lys200Asn)
c.1455G>C (p.Lys485Asn)
c.1269G>C (p.Lys423Asn)
c.1188G>C (p.Lys396Asn)
c.894G>C (p.Lys298Asn)
c.1275G>C (p.Lys425Asn)
2g.48688267C>TCA426124939GTF2A1L,LHCGR,STON1-GTF2A1Lc.1530G>A (p.Lys510=)
c.948-128G>A (n.948-128G>A)
c.3441+16587C>T (n.3441+16587C>T)
c.*274G>A (n.*274G>A)
c.1449G>A (p.Lys483=)
c.276+16587C>T (n.276+16587C>T)
c.*220+5957G>A (n.*220+5957G>A)
c.573G>A (p.Lys191=)
c.600G>A (p.Lys200=)
c.1455G>A (p.Lys485=)
c.1269G>A (p.Lys423=)
c.1188G>A (p.Lys396=)
c.894G>A (p.Lys298=)
c.1275G>A (p.Lys425=)
 dbSNP gnomAD v4
2g.48688268T>ACA46752912GTF2A1L,LHCGR,STON1-GTF2A1Lc.1529A>T (p.Lys510Met)
c.948-129A>T (n.948-129A>T)
c.3441+16588T>A (n.3441+16588T>A)
c.*273A>T (n.*273A>T)
c.1448A>T (p.Lys483Met)
c.276+16588T>A (n.276+16588T>A)
c.*220+5956A>T (n.*220+5956A>T)
c.572A>T (p.Lys191Met)
c.599A>T (p.Lys200Met)
c.1454A>T (p.Lys485Met)
c.1268A>T (p.Lys423Met)
c.1187A>T (p.Lys396Met)
c.893A>T (p.Lys298Met)
c.1274A>T (p.Lys425Met)
 dbSNP gnomAD v3 gnomAD v4
2g.48688268T>CCA346746480GTF2A1L,LHCGR,STON1-GTF2A1Lc.1529A>G (p.Lys510Arg)
c.948-129A>G (n.948-129A>G)
c.3441+16588T>C (n.3441+16588T>C)
c.*273A>G (n.*273A>G)
c.1448A>G (p.Lys483Arg)
c.276+16588T>C (n.276+16588T>C)
c.*220+5956A>G (n.*220+5956A>G)
c.572A>G (p.Lys191Arg)
c.599A>G (p.Lys200Arg)
c.1454A>G (p.Lys485Arg)
c.1268A>G (p.Lys423Arg)
c.1187A>G (p.Lys396Arg)
c.893A>G (p.Lys298Arg)
c.1274A>G (p.Lys425Arg)
 gnomAD v4
2g.48688268T>GCA346746479GTF2A1L,LHCGR,STON1-GTF2A1Lc.1529A>C (p.Lys510Thr)
c.948-129A>C (n.948-129A>C)
c.3441+16588T>G (n.3441+16588T>G)
c.*273A>C (n.*273A>C)
c.1448A>C (p.Lys483Thr)
c.276+16588T>G (n.276+16588T>G)
c.*220+5956A>C (n.*220+5956A>C)
c.572A>C (p.Lys191Thr)
c.599A>C (p.Lys200Thr)
c.1454A>C (p.Lys485Thr)
c.1268A>C (p.Lys423Thr)
c.1187A>C (p.Lys396Thr)
c.893A>C (p.Lys298Thr)
c.1274A>C (p.Lys425Thr)
2g.48688268T=CA1248601055GTF2A1L,LHCGR,STON1-GTF2A1Lc.1529A= (p.Lys510=)
c.948-129A= (n.948-129A=)
c.3441+16588T= (n.3441+16588T=)
c.*273A= (n.*273A=)
c.1448A= (p.Lys483=)
c.276+16588T= (n.276+16588T=)
c.*220+5956A= (n.*220+5956A=)
c.572A= (p.Lys191=)
c.599A= (p.Lys200=)
c.1454A= (p.Lys485=)
c.1268A= (p.Lys423=)
c.1187A= (p.Lys396=)
c.893A= (p.Lys298=)
c.1274A= (p.Lys425=)
2g.48688269T>ACA346746484GTF2A1L,LHCGR,STON1-GTF2A1Lc.1528A>T (p.Lys510Ter)
c.948-130A>T (n.948-130A>T)
c.3441+16589T>A (n.3441+16589T>A)
c.*272A>T (n.*272A>T)
c.1447A>T (p.Lys483Ter)
c.276+16589T>A (n.276+16589T>A)
c.*220+5955A>T (n.*220+5955A>T)
c.571A>T (p.Lys191Ter)
c.598A>T (p.Lys200Ter)
c.1453A>T (p.Lys485Ter)
c.1267A>T (p.Lys423Ter)
c.1186A>T (p.Lys396Ter)
c.892A>T (p.Lys298Ter)
c.1273A>T (p.Lys425Ter)
2g.48688269T>CCA346746491GTF2A1L,LHCGR,STON1-GTF2A1Lc.1528A>G (p.Lys510Glu)
c.948-130A>G (n.948-130A>G)
c.3441+16589T>C (n.3441+16589T>C)
c.*272A>G (n.*272A>G)
c.1447A>G (p.Lys483Glu)
c.276+16589T>C (n.276+16589T>C)
c.*220+5955A>G (n.*220+5955A>G)
c.571A>G (p.Lys191Glu)
c.598A>G (p.Lys200Glu)
c.1453A>G (p.Lys485Glu)
c.1267A>G (p.Lys423Glu)
c.1186A>G (p.Lys396Glu)
c.892A>G (p.Lys298Glu)
c.1273A>G (p.Lys425Glu)
2g.48688269T>GCA346746488GTF2A1L,LHCGR,STON1-GTF2A1Lc.1528A>C (p.Lys510Gln)
c.948-130A>C (n.948-130A>C)
c.3441+16589T>G (n.3441+16589T>G)
c.*272A>C (n.*272A>C)
c.1447A>C (p.Lys483Gln)
c.276+16589T>G (n.276+16589T>G)
c.*220+5955A>C (n.*220+5955A>C)
c.571A>C (p.Lys191Gln)
c.598A>C (p.Lys200Gln)
c.1453A>C (p.Lys485Gln)
c.1267A>C (p.Lys423Gln)
c.1186A>C (p.Lys396Gln)
c.892A>C (p.Lys298Gln)
c.1273A>C (p.Lys425Gln)
2g.48688270C>ACA346746495GTF2A1L,LHCGR,STON1-GTF2A1Lc.1527G>T (p.Met509Ile)
c.948-131G>T (n.948-131G>T)
c.3441+16590C>A (n.3441+16590C>A)
c.*271G>T (n.*271G>T)
c.1446G>T (p.Met482Ile)
c.276+16590C>A (n.276+16590C>A)
c.*220+5954G>T (n.*220+5954G>T)
c.570G>T (p.Met190Ile)
c.597G>T (p.Met199Ile)
c.1452G>T (p.Met484Ile)
c.1266G>T (p.Met422Ile)
c.1185G>T (p.Met395Ile)
c.891G>T (p.Met297Ile)
c.1272G>T (p.Met424Ile)
2g.48688270C>GCA346746498GTF2A1L,LHCGR,STON1-GTF2A1Lc.1527G>C (p.Met509Ile)
c.948-131G>C (n.948-131G>C)
c.3441+16590C>G (n.3441+16590C>G)
c.*271G>C (n.*271G>C)
c.1446G>C (p.Met482Ile)
c.276+16590C>G (n.276+16590C>G)
c.*220+5954G>C (n.*220+5954G>C)
c.570G>C (p.Met190Ile)
c.597G>C (p.Met199Ile)
c.1452G>C (p.Met484Ile)
c.1266G>C (p.Met422Ile)
c.1185G>C (p.Met395Ile)
c.891G>C (p.Met297Ile)
c.1272G>C (p.Met424Ile)
2g.48688270C>TCA346746506GTF2A1L,LHCGR,STON1-GTF2A1Lc.1527G>A (p.Met509Ile)
c.948-131G>A (n.948-131G>A)
c.3441+16590C>T (n.3441+16590C>T)
c.*271G>A (n.*271G>A)
c.1446G>A (p.Met482Ile)
c.276+16590C>T (n.276+16590C>T)
c.*220+5954G>A (n.*220+5954G>A)
c.570G>A (p.Met190Ile)
c.597G>A (p.Met199Ile)
c.1452G>A (p.Met484Ile)
c.1266G>A (p.Met422Ile)
c.1185G>A (p.Met395Ile)
c.891G>A (p.Met297Ile)
c.1272G>A (p.Met424Ile)
 COSMIC
2g.48688271A=CA1248601056GTF2A1L,LHCGR,STON1-GTF2A1Lc.1526T= (p.Met509=)
c.948-132T= (n.948-132T=)
c.3441+16591A= (n.3441+16591A=)
c.*270T= (n.*270T=)
c.1445T= (p.Met482=)
c.276+16591A= (n.276+16591A=)
c.*220+5953T= (n.*220+5953T=)
c.569T= (p.Met190=)
c.596T= (p.Met199=)
c.1451T= (p.Met484=)
c.1265T= (p.Met422=)
c.1184T= (p.Met395=)
c.890T= (p.Met297=)
c.1271T= (p.Met424=)
2g.48688271A>CCA346746508GTF2A1L,LHCGR,STON1-GTF2A1Lc.1526T>G (p.Met509Arg)
c.948-132T>G (n.948-132T>G)
c.3441+16591A>C (n.3441+16591A>C)
c.*270T>G (n.*270T>G)
c.1445T>G (p.Met482Arg)
c.276+16591A>C (n.276+16591A>C)
c.*220+5953T>G (n.*220+5953T>G)
c.569T>G (p.Met190Arg)
c.596T>G (p.Met199Arg)
c.1451T>G (p.Met484Arg)
c.1265T>G (p.Met422Arg)
c.1184T>G (p.Met395Arg)
c.890T>G (p.Met297Arg)
c.1271T>G (p.Met424Arg)
2g.48688271A>GCA1653020GTF2A1L,LHCGR,STON1-GTF2A1Lc.1526T>C (p.Met509Thr)
c.948-132T>C (n.948-132T>C)
c.3441+16591A>G (n.3441+16591A>G)
c.*270T>C (n.*270T>C)
c.1445T>C (p.Met482Thr)
c.276+16591A>G (n.276+16591A>G)
c.*220+5953T>C (n.*220+5953T>C)
c.569T>C (p.Met190Thr)
c.596T>C (p.Met199Thr)
c.1451T>C (p.Met484Thr)
c.1265T>C (p.Met422Thr)
c.1184T>C (p.Met395Thr)
c.890T>C (p.Met297Thr)
c.1271T>C (p.Met424Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688271A>TCA346746512GTF2A1L,LHCGR,STON1-GTF2A1Lc.1526T>A (p.Met509Lys)
c.948-132T>A (n.948-132T>A)
c.3441+16591A>T (n.3441+16591A>T)
c.*270T>A (n.*270T>A)
c.1445T>A (p.Met482Lys)
c.276+16591A>T (n.276+16591A>T)
c.*220+5953T>A (n.*220+5953T>A)
c.569T>A (p.Met190Lys)
c.596T>A (p.Met199Lys)
c.1451T>A (p.Met484Lys)
c.1265T>A (p.Met422Lys)
c.1184T>A (p.Met395Lys)
c.890T>A (p.Met297Lys)
c.1271T>A (p.Met424Lys)
 gnomAD v4
2g.48688272T>ACA346746516GTF2A1L,LHCGR,STON1-GTF2A1Lc.1525A>T (p.Met509Leu)
c.948-133A>T (n.948-133A>T)
c.3441+16592T>A (n.3441+16592T>A)
c.*269A>T (n.*269A>T)
c.1444A>T (p.Met482Leu)
c.276+16592T>A (n.276+16592T>A)
c.*220+5952A>T (n.*220+5952A>T)
c.568A>T (p.Met190Leu)
c.595A>T (p.Met199Leu)
c.1450A>T (p.Met484Leu)
c.1264A>T (p.Met422Leu)
c.1183A>T (p.Met395Leu)
c.889A>T (p.Met297Leu)
c.1270A>T (p.Met424Leu)
2g.48688272T>CCA46752923GTF2A1L,LHCGR,STON1-GTF2A1Lc.1525A>G (p.Met509Val)
c.948-133A>G (n.948-133A>G)
c.3441+16592T>C (n.3441+16592T>C)
c.*269A>G (n.*269A>G)
c.1444A>G (p.Met482Val)
c.276+16592T>C (n.276+16592T>C)
c.*220+5952A>G (n.*220+5952A>G)
c.568A>G (p.Met190Val)
c.595A>G (p.Met199Val)
c.1450A>G (p.Met484Val)
c.1264A>G (p.Met422Val)
c.1183A>G (p.Met395Val)
c.889A>G (p.Met297Val)
c.1270A>G (p.Met424Val)
 dbSNP gnomAD v4
2g.48688272T>GCA346746524GTF2A1L,LHCGR,STON1-GTF2A1Lc.1525A>C (p.Met509Leu)
c.948-133A>C (n.948-133A>C)
c.3441+16592T>G (n.3441+16592T>G)
c.*269A>C (n.*269A>C)
c.1444A>C (p.Met482Leu)
c.276+16592T>G (n.276+16592T>G)
c.*220+5952A>C (n.*220+5952A>C)
c.568A>C (p.Met190Leu)
c.595A>C (p.Met199Leu)
c.1450A>C (p.Met484Leu)
c.1264A>C (p.Met422Leu)
c.1183A>C (p.Met395Leu)
c.889A>C (p.Met297Leu)
c.1270A>C (p.Met424Leu)
2g.48688272T=CA1248601057GTF2A1L,LHCGR,STON1-GTF2A1Lc.1525A= (p.Met509=)
c.948-133A= (n.948-133A=)
c.3441+16592T= (n.3441+16592T=)
c.*269A= (n.*269A=)
c.1444A= (p.Met482=)
c.276+16592T= (n.276+16592T=)
c.*220+5952A= (n.*220+5952A=)
c.568A= (p.Met190=)
c.595A= (p.Met199=)
c.1450A= (p.Met484=)
c.1264A= (p.Met422=)
c.1183A= (p.Met395=)
c.889A= (p.Met297=)
c.1270A= (p.Met424=)
2g.48688273G>ACA426124948GTF2A1L,LHCGR,STON1-GTF2A1Lc.1524C>T (p.Tyr508=)
c.948-134C>T (n.948-134C>T)
c.3441+16593G>A (n.3441+16593G>A)
c.*268C>T (n.*268C>T)
c.1443C>T (p.Tyr481=)
c.276+16593G>A (n.276+16593G>A)
c.*220+5951C>T (n.*220+5951C>T)
c.567C>T (p.Tyr189=)
c.594C>T (p.Tyr198=)
c.1449C>T (p.Tyr483=)
c.1263C>T (p.Tyr421=)
c.1182C>T (p.Tyr394=)
c.888C>T (p.Tyr296=)
c.1269C>T (p.Tyr423=)
 COSMIC
2g.48688273G>CCA346746527GTF2A1L,LHCGR,STON1-GTF2A1Lc.1524C>G (p.Tyr508Ter)
c.948-134C>G (n.948-134C>G)
c.3441+16593G>C (n.3441+16593G>C)
c.*268C>G (n.*268C>G)
c.1443C>G (p.Tyr481Ter)
c.276+16593G>C (n.276+16593G>C)
c.*220+5951C>G (n.*220+5951C>G)
c.567C>G (p.Tyr189Ter)
c.594C>G (p.Tyr198Ter)
c.1449C>G (p.Tyr483Ter)
c.1263C>G (p.Tyr421Ter)
c.1182C>G (p.Tyr394Ter)
c.888C>G (p.Tyr296Ter)
c.1269C>G (p.Tyr423Ter)
2g.48688273G>TCA346746531GTF2A1L,LHCGR,STON1-GTF2A1Lc.1524C>A (p.Tyr508Ter)
c.948-134C>A (n.948-134C>A)
c.3441+16593G>T (n.3441+16593G>T)
c.*268C>A (n.*268C>A)
c.1443C>A (p.Tyr481Ter)
c.276+16593G>T (n.276+16593G>T)
c.*220+5951C>A (n.*220+5951C>A)
c.567C>A (p.Tyr189Ter)
c.594C>A (p.Tyr198Ter)
c.1449C>A (p.Tyr483Ter)
c.1263C>A (p.Tyr421Ter)
c.1182C>A (p.Tyr394Ter)
c.888C>A (p.Tyr296Ter)
c.1269C>A (p.Tyr423Ter)
 gnomAD v4
2g.48688274T>ACA346746540GTF2A1L,LHCGR,STON1-GTF2A1Lc.1523A>T (p.Tyr508Phe)
c.948-135A>T (n.948-135A>T)
c.3441+16594T>A (n.3441+16594T>A)
c.*267A>T (n.*267A>T)
c.1442A>T (p.Tyr481Phe)
c.276+16594T>A (n.276+16594T>A)
c.*220+5950A>T (n.*220+5950A>T)
c.566A>T (p.Tyr189Phe)
c.593A>T (p.Tyr198Phe)
c.1448A>T (p.Tyr483Phe)
c.1262A>T (p.Tyr421Phe)
c.1181A>T (p.Tyr394Phe)
c.887A>T (p.Tyr296Phe)
c.1268A>T (p.Tyr423Phe)
 COSMIC
2g.48688274T>CCA346746537GTF2A1L,LHCGR,STON1-GTF2A1Lc.1523A>G (p.Tyr508Cys)
c.948-135A>G (n.948-135A>G)
c.3441+16594T>C (n.3441+16594T>C)
c.*267A>G (n.*267A>G)
c.1442A>G (p.Tyr481Cys)
c.276+16594T>C (n.276+16594T>C)
c.*220+5950A>G (n.*220+5950A>G)
c.566A>G (p.Tyr189Cys)
c.593A>G (p.Tyr198Cys)
c.1448A>G (p.Tyr483Cys)
c.1262A>G (p.Tyr421Cys)
c.1181A>G (p.Tyr394Cys)
c.887A>G (p.Tyr296Cys)
c.1268A>G (p.Tyr423Cys)
2g.48688274T>GCA346746534GTF2A1L,LHCGR,STON1-GTF2A1Lc.1523A>C (p.Tyr508Ser)
c.948-135A>C (n.948-135A>C)
c.3441+16594T>G (n.3441+16594T>G)
c.*267A>C (n.*267A>C)
c.1442A>C (p.Tyr481Ser)
c.276+16594T>G (n.276+16594T>G)
c.*220+5950A>C (n.*220+5950A>C)
c.566A>C (p.Tyr189Ser)
c.593A>C (p.Tyr198Ser)
c.1448A>C (p.Tyr483Ser)
c.1262A>C (p.Tyr421Ser)
c.1181A>C (p.Tyr394Ser)
c.887A>C (p.Tyr296Ser)
c.1268A>C (p.Tyr423Ser)
2g.48688275A>CCA346746541GTF2A1L,LHCGR,STON1-GTF2A1Lc.1522T>G (p.Tyr508Asp)
c.948-136T>G (n.948-136T>G)
c.3441+16595A>C (n.3441+16595A>C)
c.*266T>G (n.*266T>G)
c.1441T>G (p.Tyr481Asp)
c.276+16595A>C (n.276+16595A>C)
c.*220+5949T>G (n.*220+5949T>G)
c.565T>G (p.Tyr189Asp)
c.592T>G (p.Tyr198Asp)
c.1447T>G (p.Tyr483Asp)
c.1261T>G (p.Tyr421Asp)
c.1180T>G (p.Tyr394Asp)
c.886T>G (p.Tyr296Asp)
c.1267T>G (p.Tyr423Asp)
2g.48688275A>GCA346746542GTF2A1L,LHCGR,STON1-GTF2A1Lc.1522T>C (p.Tyr508His)
c.948-136T>C (n.948-136T>C)
c.3441+16595A>G (n.3441+16595A>G)
c.*266T>C (n.*266T>C)
c.1441T>C (p.Tyr481His)
c.276+16595A>G (n.276+16595A>G)
c.*220+5949T>C (n.*220+5949T>C)
c.565T>C (p.Tyr189His)
c.592T>C (p.Tyr198His)
c.1447T>C (p.Tyr483His)
c.1261T>C (p.Tyr421His)
c.1180T>C (p.Tyr394His)
c.886T>C (p.Tyr296His)
c.1267T>C (p.Tyr423His)
2g.48688275A>TCA346746543GTF2A1L,LHCGR,STON1-GTF2A1Lc.1522T>A (p.Tyr508Asn)
c.948-136T>A (n.948-136T>A)
c.3441+16595A>T (n.3441+16595A>T)
c.*266T>A (n.*266T>A)
c.1441T>A (p.Tyr481Asn)
c.276+16595A>T (n.276+16595A>T)
c.*220+5949T>A (n.*220+5949T>A)
c.565T>A (p.Tyr189Asn)
c.592T>A (p.Tyr198Asn)
c.1447T>A (p.Tyr483Asn)
c.1261T>A (p.Tyr421Asn)
c.1180T>A (p.Tyr394Asn)
c.886T>A (p.Tyr296Asn)
c.1267T>A (p.Tyr423Asn)
2g.48688276A>CCA346746544GTF2A1L,LHCGR,STON1-GTF2A1Lc.1521T>G (p.Asn507Lys)
c.948-137T>G (n.948-137T>G)
c.3441+16596A>C (n.3441+16596A>C)
c.*265T>G (n.*265T>G)
c.1440T>G (p.Asn480Lys)
c.276+16596A>C (n.276+16596A>C)
c.*220+5948T>G (n.*220+5948T>G)
c.564T>G (p.Asn188Lys)
c.591T>G (p.Asn197Lys)
c.1446T>G (p.Asn482Lys)
c.1260T>G (p.Asn420Lys)
c.1179T>G (p.Asn393Lys)
c.885T>G (p.Asn295Lys)
c.1266T>G (p.Asn422Lys)
2g.48688276A>GCA426124951GTF2A1L,LHCGR,STON1-GTF2A1Lc.1521T>C (p.Asn507=)
c.948-137T>C (n.948-137T>C)
c.3441+16596A>G (n.3441+16596A>G)
c.*265T>C (n.*265T>C)
c.1440T>C (p.Asn480=)
c.276+16596A>G (n.276+16596A>G)
c.*220+5948T>C (n.*220+5948T>C)
c.564T>C (p.Asn188=)
c.591T>C (p.Asn197=)
c.1446T>C (p.Asn482=)
c.1260T>C (p.Asn420=)
c.1179T>C (p.Asn393=)
c.885T>C (p.Asn295=)
c.1266T>C (p.Asn422=)
 gnomAD v4
2g.48688276A>TCA346746546GTF2A1L,LHCGR,STON1-GTF2A1Lc.1521T>A (p.Asn507Lys)
c.948-137T>A (n.948-137T>A)
c.3441+16596A>T (n.3441+16596A>T)
c.*265T>A (n.*265T>A)
c.1440T>A (p.Asn480Lys)
c.276+16596A>T (n.276+16596A>T)
c.*220+5948T>A (n.*220+5948T>A)
c.564T>A (p.Asn188Lys)
c.591T>A (p.Asn197Lys)
c.1446T>A (p.Asn482Lys)
c.1260T>A (p.Asn420Lys)
c.1179T>A (p.Asn393Lys)
c.885T>A (p.Asn295Lys)
c.1266T>A (p.Asn422Lys)
2g.48688277T>ACA346746549GTF2A1L,LHCGR,STON1-GTF2A1Lc.1520A>T (p.Asn507Ile)
c.948-138A>T (n.948-138A>T)
c.3441+16597T>A (n.3441+16597T>A)
c.*264A>T (n.*264A>T)
c.1439A>T (p.Asn480Ile)
c.276+16597T>A (n.276+16597T>A)
c.*220+5947A>T (n.*220+5947A>T)
c.563A>T (p.Asn188Ile)
c.590A>T (p.Asn197Ile)
c.1445A>T (p.Asn482Ile)
c.1259A>T (p.Asn420Ile)
c.1178A>T (p.Asn393Ile)
c.884A>T (p.Asn295Ile)
c.1265A>T (p.Asn422Ile)
2g.48688277T>CCA346746551GTF2A1L,LHCGR,STON1-GTF2A1Lc.1520A>G (p.Asn507Ser)
c.948-138A>G (n.948-138A>G)
c.3441+16597T>C (n.3441+16597T>C)
c.*264A>G (n.*264A>G)
c.1439A>G (p.Asn480Ser)
c.276+16597T>C (n.276+16597T>C)
c.*220+5947A>G (n.*220+5947A>G)
c.563A>G (p.Asn188Ser)
c.590A>G (p.Asn197Ser)
c.1445A>G (p.Asn482Ser)
c.1259A>G (p.Asn420Ser)
c.1178A>G (p.Asn393Ser)
c.884A>G (p.Asn295Ser)
c.1265A>G (p.Asn422Ser)
 ClinVar dbSNP gnomAD v4
2g.48688277T>GCA346746552GTF2A1L,LHCGR,STON1-GTF2A1Lc.1520A>C (p.Asn507Thr)
c.948-138A>C (n.948-138A>C)
c.3441+16597T>G (n.3441+16597T>G)
c.*264A>C (n.*264A>C)
c.1439A>C (p.Asn480Thr)
c.276+16597T>G (n.276+16597T>G)
c.*220+5947A>C (n.*220+5947A>C)
c.563A>C (p.Asn188Thr)
c.590A>C (p.Asn197Thr)
c.1445A>C (p.Asn482Thr)
c.1259A>C (p.Asn420Thr)
c.1178A>C (p.Asn393Thr)
c.884A>C (p.Asn295Thr)
c.1265A>C (p.Asn422Thr)
2g.48688277T=CA1248601058GTF2A1L,LHCGR,STON1-GTF2A1Lc.1520A= (p.Asn507=)
c.948-138A= (n.948-138A=)
c.3441+16597T= (n.3441+16597T=)
c.*264A= (n.*264A=)
c.1439A= (p.Asn480=)
c.276+16597T= (n.276+16597T=)
c.*220+5947A= (n.*220+5947A=)
c.563A= (p.Asn188=)
c.590A= (p.Asn197=)
c.1445A= (p.Asn482=)
c.1259A= (p.Asn420=)
c.1178A= (p.Asn393=)
c.884A= (p.Asn295=)
c.1265A= (p.Asn422=)
2g.48688278T>ACA346746554GTF2A1L,LHCGR,STON1-GTF2A1Lc.1519A>T (p.Asn507Tyr)
c.948-139A>T (n.948-139A>T)
c.3441+16598T>A (n.3441+16598T>A)
c.*263A>T (n.*263A>T)
c.1438A>T (p.Asn480Tyr)
c.276+16598T>A (n.276+16598T>A)
c.*220+5946A>T (n.*220+5946A>T)
c.562A>T (p.Asn188Tyr)
c.589A>T (p.Asn197Tyr)
c.1444A>T (p.Asn482Tyr)
c.1258A>T (p.Asn420Tyr)
c.1177A>T (p.Asn393Tyr)
c.883A>T (p.Asn295Tyr)
c.1264A>T (p.Asn422Tyr)
2g.48688278T>CCA346746556GTF2A1L,LHCGR,STON1-GTF2A1Lc.1519A>G (p.Asn507Asp)
c.948-139A>G (n.948-139A>G)
c.3441+16598T>C (n.3441+16598T>C)
c.*263A>G (n.*263A>G)
c.1438A>G (p.Asn480Asp)
c.276+16598T>C (n.276+16598T>C)
c.*220+5946A>G (n.*220+5946A>G)
c.562A>G (p.Asn188Asp)
c.589A>G (p.Asn197Asp)
c.1444A>G (p.Asn482Asp)
c.1258A>G (p.Asn420Asp)
c.1177A>G (p.Asn393Asp)
c.883A>G (p.Asn295Asp)
c.1264A>G (p.Asn422Asp)
2g.48688278T>GCA346746559GTF2A1L,LHCGR,STON1-GTF2A1Lc.1519A>C (p.Asn507His)
c.948-139A>C (n.948-139A>C)
c.3441+16598T>G (n.3441+16598T>G)
c.*263A>C (n.*263A>C)
c.1438A>C (p.Asn480His)
c.276+16598T>G (n.276+16598T>G)
c.*220+5946A>C (n.*220+5946A>C)
c.562A>C (p.Asn188His)
c.589A>C (p.Asn197His)
c.1444A>C (p.Asn482His)
c.1258A>C (p.Asn420His)
c.1177A>C (p.Asn393His)
c.883A>C (p.Asn295His)
c.1264A>C (p.Asn422His)
2g.48688279G>ACA426124952GTF2A1L,LHCGR,STON1-GTF2A1Lc.1518C>T (p.Ser506=)
c.948-140C>T (n.948-140C>T)
c.3441+16599G>A (n.3441+16599G>A)
c.*262C>T (n.*262C>T)
c.1437C>T (p.Ser479=)
c.276+16599G>A (n.276+16599G>A)
c.*220+5945C>T (n.*220+5945C>T)
c.561C>T (p.Ser187=)
c.588C>T (p.Ser196=)
c.1443C>T (p.Ser481=)
c.1257C>T (p.Ser419=)
c.1176C>T (p.Ser392=)
c.882C>T (p.Ser294=)
c.1263C>T (p.Ser421=)
 gnomAD v4
2g.48688279G>CCA346746562GTF2A1L,LHCGR,STON1-GTF2A1Lc.1518C>G (p.Ser506Arg)
c.948-140C>G (n.948-140C>G)
c.3441+16599G>C (n.3441+16599G>C)
c.*262C>G (n.*262C>G)
c.1437C>G (p.Ser479Arg)
c.276+16599G>C (n.276+16599G>C)
c.*220+5945C>G (n.*220+5945C>G)
c.561C>G (p.Ser187Arg)
c.588C>G (p.Ser196Arg)
c.1443C>G (p.Ser481Arg)
c.1257C>G (p.Ser419Arg)
c.1176C>G (p.Ser392Arg)
c.882C>G (p.Ser294Arg)
c.1263C>G (p.Ser421Arg)
2g.48688279G>TCA346746565GTF2A1L,LHCGR,STON1-GTF2A1Lc.1518C>A (p.Ser506Arg)
c.948-140C>A (n.948-140C>A)
c.3441+16599G>T (n.3441+16599G>T)
c.*262C>A (n.*262C>A)
c.1437C>A (p.Ser479Arg)
c.276+16599G>T (n.276+16599G>T)
c.*220+5945C>A (n.*220+5945C>A)
c.561C>A (p.Ser187Arg)
c.588C>A (p.Ser196Arg)
c.1443C>A (p.Ser481Arg)
c.1257C>A (p.Ser419Arg)
c.1176C>A (p.Ser392Arg)
c.882C>A (p.Ser294Arg)
c.1263C>A (p.Ser421Arg)
2g.48688280C>ACA346746569GTF2A1L,LHCGR,STON1-GTF2A1Lc.1517G>T (p.Ser506Ile)
c.948-141G>T (n.948-141G>T)
c.3441+16600C>A (n.3441+16600C>A)
c.*261G>T (n.*261G>T)
c.1436G>T (p.Ser479Ile)
c.276+16600C>A (n.276+16600C>A)
c.*220+5944G>T (n.*220+5944G>T)
c.560G>T (p.Ser187Ile)
c.587G>T (p.Ser196Ile)
c.1442G>T (p.Ser481Ile)
c.1256G>T (p.Ser419Ile)
c.1175G>T (p.Ser392Ile)
c.881G>T (p.Ser294Ile)
c.1262G>T (p.Ser421Ile)
 COSMIC
2g.48688280C>GCA346746571GTF2A1L,LHCGR,STON1-GTF2A1Lc.1517G>C (p.Ser506Thr)
c.948-141G>C (n.948-141G>C)
c.3441+16600C>G (n.3441+16600C>G)
c.*261G>C (n.*261G>C)
c.1436G>C (p.Ser479Thr)
c.276+16600C>G (n.276+16600C>G)
c.*220+5944G>C (n.*220+5944G>C)
c.560G>C (p.Ser187Thr)
c.587G>C (p.Ser196Thr)
c.1442G>C (p.Ser481Thr)
c.1256G>C (p.Ser419Thr)
c.1175G>C (p.Ser392Thr)
c.881G>C (p.Ser294Thr)
c.1262G>C (p.Ser421Thr)
2g.48688280C>TCA346746567GTF2A1L,LHCGR,STON1-GTF2A1Lc.1517G>A (p.Ser506Asn)
c.948-141G>A (n.948-141G>A)
c.3441+16600C>T (n.3441+16600C>T)
c.*261G>A (n.*261G>A)
c.1436G>A (p.Ser479Asn)
c.276+16600C>T (n.276+16600C>T)
c.*220+5944G>A (n.*220+5944G>A)
c.560G>A (p.Ser187Asn)
c.587G>A (p.Ser196Asn)
c.1442G>A (p.Ser481Asn)
c.1256G>A (p.Ser419Asn)
c.1175G>A (p.Ser392Asn)
c.881G>A (p.Ser294Asn)
c.1262G>A (p.Ser421Asn)
2g.48688281T>ACA346746574GTF2A1L,LHCGR,STON1-GTF2A1Lc.1516A>T (p.Ser506Cys)
c.948-142A>T (n.948-142A>T)
c.3441+16601T>A (n.3441+16601T>A)
c.*260A>T (n.*260A>T)
c.1435A>T (p.Ser479Cys)
c.276+16601T>A (n.276+16601T>A)
c.*220+5943A>T (n.*220+5943A>T)
c.559A>T (p.Ser187Cys)
c.586A>T (p.Ser196Cys)
c.1441A>T (p.Ser481Cys)
c.1255A>T (p.Ser419Cys)
c.1174A>T (p.Ser392Cys)
c.880A>T (p.Ser294Cys)
c.1261A>T (p.Ser421Cys)
2g.48688281T>CCA346746578GTF2A1L,LHCGR,STON1-GTF2A1Lc.1516A>G (p.Ser506Gly)
c.948-142A>G (n.948-142A>G)
c.3441+16601T>C (n.3441+16601T>C)
c.*260A>G (n.*260A>G)
c.1435A>G (p.Ser479Gly)
c.276+16601T>C (n.276+16601T>C)
c.*220+5943A>G (n.*220+5943A>G)
c.559A>G (p.Ser187Gly)
c.586A>G (p.Ser196Gly)
c.1441A>G (p.Ser481Gly)
c.1255A>G (p.Ser419Gly)
c.1174A>G (p.Ser392Gly)
c.880A>G (p.Ser294Gly)
c.1261A>G (p.Ser421Gly)
 gnomAD v4
2g.48688281T>GCA346746576GTF2A1L,LHCGR,STON1-GTF2A1Lc.1516A>C (p.Ser506Arg)
c.948-142A>C (n.948-142A>C)
c.3441+16601T>G (n.3441+16601T>G)
c.*260A>C (n.*260A>C)
c.1435A>C (p.Ser479Arg)
c.276+16601T>G (n.276+16601T>G)
c.*220+5943A>C (n.*220+5943A>C)
c.559A>C (p.Ser187Arg)
c.586A>C (p.Ser196Arg)
c.1441A>C (p.Ser481Arg)
c.1255A>C (p.Ser419Arg)
c.1174A>C (p.Ser392Arg)
c.880A>C (p.Ser294Arg)
c.1261A>C (p.Ser421Arg)
2g.48688282G>ACA426124955GTF2A1L,LHCGR,STON1-GTF2A1Lc.1515C>T (p.Val505=)
c.948-143C>T (n.948-143C>T)
c.3441+16602G>A (n.3441+16602G>A)
c.*259C>T (n.*259C>T)
c.1434C>T (p.Val478=)
c.276+16602G>A (n.276+16602G>A)
c.*220+5942C>T (n.*220+5942C>T)
c.558C>T (p.Val186=)
c.585C>T (p.Val195=)
c.1440C>T (p.Val480=)
c.1254C>T (p.Val418=)
c.1173C>T (p.Val391=)
c.879C>T (p.Val293=)
c.1260C>T (p.Val420=)
2g.48688282G>CCA426124956GTF2A1L,LHCGR,STON1-GTF2A1Lc.1515C>G (p.Val505=)
c.948-143C>G (n.948-143C>G)
c.3441+16602G>C (n.3441+16602G>C)
c.*259C>G (n.*259C>G)
c.1434C>G (p.Val478=)
c.276+16602G>C (n.276+16602G>C)
c.*220+5942C>G (n.*220+5942C>G)
c.558C>G (p.Val186=)
c.585C>G (p.Val195=)
c.1440C>G (p.Val480=)
c.1254C>G (p.Val418=)
c.1173C>G (p.Val391=)
c.879C>G (p.Val293=)
c.1260C>G (p.Val420=)
2g.48688282G>TCA426124957GTF2A1L,LHCGR,STON1-GTF2A1Lc.1515C>A (p.Val505=)
c.948-143C>A (n.948-143C>A)
c.3441+16602G>T (n.3441+16602G>T)
c.*259C>A (n.*259C>A)
c.1434C>A (p.Val478=)
c.276+16602G>T (n.276+16602G>T)
c.*220+5942C>A (n.*220+5942C>A)
c.558C>A (p.Val186=)
c.585C>A (p.Val195=)
c.1440C>A (p.Val480=)
c.1254C>A (p.Val418=)
c.1173C>A (p.Val391=)
c.879C>A (p.Val293=)
c.1260C>A (p.Val420=)
2g.48688283A=CA1248601059GTF2A1L,LHCGR,STON1-GTF2A1Lc.1514T= (p.Val505=)
c.948-144T= (n.948-144T=)
c.3441+16603A= (n.3441+16603A=)
c.*258T= (n.*258T=)
c.1433T= (p.Val478=)
c.276+16603A= (n.276+16603A=)
c.*220+5941T= (n.*220+5941T=)
c.557T= (p.Val186=)
c.584T= (p.Val195=)
c.1439T= (p.Val480=)
c.1253T= (p.Val418=)
c.1172T= (p.Val391=)
c.878T= (p.Val293=)
c.1259T= (p.Val420=)
2g.48688283A>CCA346746580GTF2A1L,LHCGR,STON1-GTF2A1Lc.1514T>G (p.Val505Gly)
c.948-144T>G (n.948-144T>G)
c.3441+16603A>C (n.3441+16603A>C)
c.*258T>G (n.*258T>G)
c.1433T>G (p.Val478Gly)
c.276+16603A>C (n.276+16603A>C)
c.*220+5941T>G (n.*220+5941T>G)
c.557T>G (p.Val186Gly)
c.584T>G (p.Val195Gly)
c.1439T>G (p.Val480Gly)
c.1253T>G (p.Val418Gly)
c.1172T>G (p.Val391Gly)
c.878T>G (p.Val293Gly)
c.1259T>G (p.Val420Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.48688283A>GCA346746584GTF2A1L,LHCGR,STON1-GTF2A1Lc.1514T>C (p.Val505Ala)
c.948-144T>C (n.948-144T>C)
c.3441+16603A>G (n.3441+16603A>G)
c.*258T>C (n.*258T>C)
c.1433T>C (p.Val478Ala)
c.276+16603A>G (n.276+16603A>G)
c.*220+5941T>C (n.*220+5941T>C)
c.557T>C (p.Val186Ala)
c.584T>C (p.Val195Ala)
c.1439T>C (p.Val480Ala)
c.1253T>C (p.Val418Ala)
c.1172T>C (p.Val391Ala)
c.878T>C (p.Val293Ala)
c.1259T>C (p.Val420Ala)
2g.48688283A>TCA346746581GTF2A1L,LHCGR,STON1-GTF2A1Lc.1514T>A (p.Val505Asp)
c.948-144T>A (n.948-144T>A)
c.3441+16603A>T (n.3441+16603A>T)
c.*258T>A (n.*258T>A)
c.1433T>A (p.Val478Asp)
c.276+16603A>T (n.276+16603A>T)
c.*220+5941T>A (n.*220+5941T>A)
c.557T>A (p.Val186Asp)
c.584T>A (p.Val195Asp)
c.1439T>A (p.Val480Asp)
c.1253T>A (p.Val418Asp)
c.1172T>A (p.Val391Asp)
c.878T>A (p.Val293Asp)
c.1259T>A (p.Val420Asp)
2g.48688284C>ACA346746589GTF2A1L,LHCGR,STON1-GTF2A1Lc.1513G>T (p.Val505Phe)
c.948-145G>T (n.948-145G>T)
c.3441+16604C>A (n.3441+16604C>A)
c.*257G>T (n.*257G>T)
c.1432G>T (p.Val478Phe)
c.276+16604C>A (n.276+16604C>A)
c.*220+5940G>T (n.*220+5940G>T)
c.556G>T (p.Val186Phe)
c.583G>T (p.Val195Phe)
c.1438G>T (p.Val480Phe)
c.1252G>T (p.Val418Phe)
c.1171G>T (p.Val391Phe)
c.877G>T (p.Val293Phe)
c.1258G>T (p.Val420Phe)
 gnomAD v4
2g.48688284C>GCA346746596GTF2A1L,LHCGR,STON1-GTF2A1Lc.1513G>C (p.Val505Leu)
c.948-145G>C (n.948-145G>C)
c.3441+16604C>G (n.3441+16604C>G)
c.*257G>C (n.*257G>C)
c.1432G>C (p.Val478Leu)
c.276+16604C>G (n.276+16604C>G)
c.*220+5940G>C (n.*220+5940G>C)
c.556G>C (p.Val186Leu)
c.583G>C (p.Val195Leu)
c.1438G>C (p.Val480Leu)
c.1252G>C (p.Val418Leu)
c.1171G>C (p.Val391Leu)
c.877G>C (p.Val293Leu)
c.1258G>C (p.Val420Leu)
2g.48688284C>TCA346746592GTF2A1L,LHCGR,STON1-GTF2A1Lc.1513G>A (p.Val505Ile)
c.948-145G>A (n.948-145G>A)
c.3441+16604C>T (n.3441+16604C>T)
c.*257G>A (n.*257G>A)
c.1432G>A (p.Val478Ile)
c.276+16604C>T (n.276+16604C>T)
c.*220+5940G>A (n.*220+5940G>A)
c.556G>A (p.Val186Ile)
c.583G>A (p.Val195Ile)
c.1438G>A (p.Val480Ile)
c.1252G>A (p.Val418Ile)
c.1171G>A (p.Val391Ile)
c.877G>A (p.Val293Ile)
c.1258G>A (p.Val420Ile)
 COSMIC
2g.48688285A=CA1248601060GTF2A1L,LHCGR,STON1-GTF2A1Lc.1512T= (p.Gly504=)
c.948-146T= (n.948-146T=)
c.3441+16605A= (n.3441+16605A=)
c.*256T= (n.*256T=)
c.1431T= (p.Gly477=)
c.276+16605A= (n.276+16605A=)
c.*220+5939T= (n.*220+5939T=)
c.555T= (p.Gly185=)
c.582T= (p.Gly194=)
c.1437T= (p.Gly479=)
c.1251T= (p.Gly417=)
c.1170T= (p.Gly390=)
c.876T= (p.Gly292=)
c.1257T= (p.Gly419=)
2g.48688285A>CCA46752925GTF2A1L,LHCGR,STON1-GTF2A1Lc.1512T>G (p.Gly504=)
c.948-146T>G (n.948-146T>G)
c.3441+16605A>C (n.3441+16605A>C)
c.*256T>G (n.*256T>G)
c.1431T>G (p.Gly477=)
c.276+16605A>C (n.276+16605A>C)
c.*220+5939T>G (n.*220+5939T>G)
c.555T>G (p.Gly185=)
c.582T>G (p.Gly194=)
c.1437T>G (p.Gly479=)
c.1251T>G (p.Gly417=)
c.1170T>G (p.Gly390=)
c.876T>G (p.Gly292=)
c.1257T>G (p.Gly419=)
 dbSNP
2g.48688285A>GCA426124963GTF2A1L,LHCGR,STON1-GTF2A1Lc.1512T>C (p.Gly504=)
c.948-146T>C (n.948-146T>C)
c.3441+16605A>G (n.3441+16605A>G)
c.*256T>C (n.*256T>C)
c.1431T>C (p.Gly477=)
c.276+16605A>G (n.276+16605A>G)
c.*220+5939T>C (n.*220+5939T>C)
c.555T>C (p.Gly185=)
c.582T>C (p.Gly194=)
c.1437T>C (p.Gly479=)
c.1251T>C (p.Gly417=)
c.1170T>C (p.Gly390=)
c.876T>C (p.Gly292=)
c.1257T>C (p.Gly419=)
2g.48688285A>TCA426124964GTF2A1L,LHCGR,STON1-GTF2A1Lc.1512T>A (p.Gly504=)
c.948-146T>A (n.948-146T>A)
c.3441+16605A>T (n.3441+16605A>T)
c.*256T>A (n.*256T>A)
c.1431T>A (p.Gly477=)
c.276+16605A>T (n.276+16605A>T)
c.*220+5939T>A (n.*220+5939T>A)
c.555T>A (p.Gly185=)
c.582T>A (p.Gly194=)
c.1437T>A (p.Gly479=)
c.1251T>A (p.Gly417=)
c.1170T>A (p.Gly390=)
c.876T>A (p.Gly292=)
c.1257T>A (p.Gly419=)
 dbSNP gnomAD v3 gnomAD v4
2g.48688286C>ACA346746609GTF2A1L,LHCGR,STON1-GTF2A1Lc.1511G>T (p.Gly504Val)
c.948-147G>T (n.948-147G>T)
c.3441+16606C>A (n.3441+16606C>A)
c.*255G>T (n.*255G>T)
c.1430G>T (p.Gly477Val)
c.276+16606C>A (n.276+16606C>A)
c.*220+5938G>T (n.*220+5938G>T)
c.554G>T (p.Gly185Val)
c.581G>T (p.Gly194Val)
c.1436G>T (p.Gly479Val)
c.1250G>T (p.Gly417Val)
c.1169G>T (p.Gly390Val)
c.875G>T (p.Gly292Val)
c.1256G>T (p.Gly419Val)
 dbSNP gnomAD v4
2g.48688286C=CA1248601061GTF2A1L,LHCGR,STON1-GTF2A1Lc.1511G= (p.Gly504=)
c.948-147G= (n.948-147G=)
c.3441+16606C= (n.3441+16606C=)
c.*255G= (n.*255G=)
c.1430G= (p.Gly477=)
c.276+16606C= (n.276+16606C=)
c.*220+5938G= (n.*220+5938G=)
c.554G= (p.Gly185=)
c.581G= (p.Gly194=)
c.1436G= (p.Gly479=)
c.1250G= (p.Gly417=)
c.1169G= (p.Gly390=)
c.875G= (p.Gly292=)
c.1256G= (p.Gly419=)
2g.48688286C>GCA346746605GTF2A1L,LHCGR,STON1-GTF2A1Lc.1511G>C (p.Gly504Ala)
c.948-147G>C (n.948-147G>C)
c.3441+16606C>G (n.3441+16606C>G)
c.*255G>C (n.*255G>C)
c.1430G>C (p.Gly477Ala)
c.276+16606C>G (n.276+16606C>G)
c.*220+5938G>C (n.*220+5938G>C)
c.554G>C (p.Gly185Ala)
c.581G>C (p.Gly194Ala)
c.1436G>C (p.Gly479Ala)
c.1250G>C (p.Gly417Ala)
c.1169G>C (p.Gly390Ala)
c.875G>C (p.Gly292Ala)
c.1256G>C (p.Gly419Ala)
2g.48688286C>TCA346746607GTF2A1L,LHCGR,STON1-GTF2A1Lc.1511G>A (p.Gly504Asp)
c.948-147G>A (n.948-147G>A)
c.3441+16606C>T (n.3441+16606C>T)
c.*255G>A (n.*255G>A)
c.1430G>A (p.Gly477Asp)
c.276+16606C>T (n.276+16606C>T)
c.*220+5938G>A (n.*220+5938G>A)
c.554G>A (p.Gly185Asp)
c.581G>A (p.Gly194Asp)
c.1436G>A (p.Gly479Asp)
c.1250G>A (p.Gly417Asp)
c.1169G>A (p.Gly390Asp)
c.875G>A (p.Gly292Asp)
c.1256G>A (p.Gly419Asp)
2g.48688287C>ACA346746614GTF2A1L,LHCGR,STON1-GTF2A1Lc.1510G>T (p.Gly504Cys)
c.948-148G>T (n.948-148G>T)
c.3441+16607C>A (n.3441+16607C>A)
c.*254G>T (n.*254G>T)
c.1429G>T (p.Gly477Cys)
c.276+16607C>A (n.276+16607C>A)
c.*220+5937G>T (n.*220+5937G>T)
c.553G>T (p.Gly185Cys)
c.580G>T (p.Gly194Cys)
c.1435G>T (p.Gly479Cys)
c.1249G>T (p.Gly417Cys)
c.1168G>T (p.Gly390Cys)
c.874G>T (p.Gly292Cys)
c.1255G>T (p.Gly419Cys)
2g.48688287C=CA1248601062GTF2A1L,LHCGR,STON1-GTF2A1Lc.1510G= (p.Gly504=)
c.948-148G= (n.948-148G=)
c.3441+16607C= (n.3441+16607C=)
c.*254G= (n.*254G=)
c.1429G= (p.Gly477=)
c.276+16607C= (n.276+16607C=)
c.*220+5937G= (n.*220+5937G=)
c.553G= (p.Gly185=)
c.580G= (p.Gly194=)
c.1435G= (p.Gly479=)
c.1249G= (p.Gly417=)
c.1168G= (p.Gly390=)
c.874G= (p.Gly292=)
c.1255G= (p.Gly419=)
2g.48688287C>GCA346746616GTF2A1L,LHCGR,STON1-GTF2A1Lc.1510G>C (p.Gly504Arg)
c.948-148G>C (n.948-148G>C)
c.3441+16607C>G (n.3441+16607C>G)
c.*254G>C (n.*254G>C)
c.1429G>C (p.Gly477Arg)
c.276+16607C>G (n.276+16607C>G)
c.*220+5937G>C (n.*220+5937G>C)
c.553G>C (p.Gly185Arg)
c.580G>C (p.Gly194Arg)
c.1435G>C (p.Gly479Arg)
c.1249G>C (p.Gly417Arg)
c.1168G>C (p.Gly390Arg)
c.874G>C (p.Gly292Arg)
c.1255G>C (p.Gly419Arg)
 gnomAD v4
2g.48688287C>TCA1653021GTF2A1L,LHCGR,STON1-GTF2A1Lc.1510G>A (p.Gly504Ser)
c.948-148G>A (n.948-148G>A)
c.3441+16607C>T (n.3441+16607C>T)
c.*254G>A (n.*254G>A)
c.1429G>A (p.Gly477Ser)
c.276+16607C>T (n.276+16607C>T)
c.*220+5937G>A (n.*220+5937G>A)
c.553G>A (p.Gly185Ser)
c.580G>A (p.Gly194Ser)
c.1435G>A (p.Gly479Ser)
c.1249G>A (p.Gly417Ser)
c.1168G>A (p.Gly390Ser)
c.874G>A (p.Gly292Ser)
c.1255G>A (p.Gly419Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.48688288G>ACA1653022GTF2A1L,LHCGR,STON1-GTF2A1Lc.1509C>T (p.Val503=)
c.948-149C>T (n.948-149C>T)
c.3441+16608G>A (n.3441+16608G>A)
c.*253C>T (n.*253C>T)
c.1428C>T (p.Val476=)
c.276+16608G>A (n.276+16608G>A)
c.*220+5936C>T (n.*220+5936C>T)
c.552C>T (p.Val184=)
c.579C>T (p.Val193=)
c.1434C>T (p.Val478=)
c.1248C>T (p.Val416=)
c.1167C>T (p.Val389=)
c.873C>T (p.Val291=)
c.1254C>T (p.Val418=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.48688288G>CCA426124966GTF2A1L,LHCGR,STON1-GTF2A1Lc.1509C>G (p.Val503=)
c.948-149C>G (n.948-149C>G)
c.3441+16608G>C (n.3441+16608G>C)
c.*253C>G (n.*253C>G)
c.1428C>G (p.Val476=)
c.276+16608G>C (n.276+16608G>C)
c.*220+5936C>G (n.*220+5936C>G)
c.552C>G (p.Val184=)
c.579C>G (p.Val193=)
c.1434C>G (p.Val478=)
c.1248C>G (p.Val416=)
c.1167C>G (p.Val389=)
c.873C>G (p.Val291=)
c.1254C>G (p.Val418=)
2g.48688288G=CA1248601063GTF2A1L,LHCGR,STON1-GTF2A1Lc.1509C= (p.Val503=)
c.948-149C= (n.948-149C=)
c.3441+16608G= (n.3441+16608G=)
c.*253C= (n.*253C=)
c.1428C= (p.Val476=)
c.276+16608G= (n.276+16608G=)
c.*220+5936C= (n.*220+5936C=)
c.552C= (p.Val184=)
c.579C= (p.Val193=)
c.1434C= (p.Val478=)
c.1248C= (p.Val416=)
c.1167C= (p.Val389=)
c.873C= (p.Val291=)
c.1254C= (p.Val418=)
2g.48688288G>TCA426124967GTF2A1L,LHCGR,STON1-GTF2A1Lc.1509C>A (p.Val503=)
c.948-149C>A (n.948-149C>A)
c.3441+16608G>T (n.3441+16608G>T)
c.*253C>A (n.*253C>A)
c.1428C>A (p.Val476=)
c.276+16608G>T (n.276+16608G>T)
c.*220+5936C>A (n.*220+5936C>A)
c.552C>A (p.Val184=)
c.579C>A (p.Val193=)
c.1434C>A (p.Val478=)
c.1248C>A (p.Val416=)
c.1167C>A (p.Val389=)
c.873C>A (p.Val291=)
c.1254C>A (p.Val418=)
2g.48688289A>CCA346746629GTF2A1L,LHCGR,STON1-GTF2A1Lc.1508T>G (p.Val503Gly)
c.948-150T>G (n.948-150T>G)
c.3441+16609A>C (n.3441+16609A>C)
c.*252T>G (n.*252T>G)
c.1427T>G (p.Val476Gly)
c.276+16609A>C (n.276+16609A>C)
c.*220+5935T>G (n.*220+5935T>G)
c.551T>G (p.Val184Gly)
c.578T>G (p.Val193Gly)
c.1433T>G (p.Val478Gly)
c.1247T>G (p.Val416Gly)
c.1166T>G (p.Val389Gly)
c.872T>G (p.Val291Gly)
c.1253T>G (p.Val418Gly)
2g.48688289A>GCA346746631GTF2A1L,LHCGR,STON1-GTF2A1Lc.1508T>C (p.Val503Ala)
c.948-150T>C (n.948-150T>C)
c.3441+16609A>G (n.3441+16609A>G)
c.*252T>C (n.*252T>C)
c.1427T>C (p.Val476Ala)
c.276+16609A>G (n.276+16609A>G)
c.*220+5935T>C (n.*220+5935T>C)
c.551T>C (p.Val184Ala)
c.578T>C (p.Val193Ala)
c.1433T>C (p.Val478Ala)
c.1247T>C (p.Val416Ala)
c.1166T>C (p.Val389Ala)
c.872T>C (p.Val291Ala)
c.1253T>C (p.Val418Ala)
2g.48688289A>TCA346746632GTF2A1L,LHCGR,STON1-GTF2A1Lc.1508T>A (p.Val503Asp)
c.948-150T>A (n.948-150T>A)
c.3441+16609A>T (n.3441+16609A>T)
c.*252T>A (n.*252T>A)
c.1427T>A (p.Val476Asp)
c.276+16609A>T (n.276+16609A>T)
c.*220+5935T>A (n.*220+5935T>A)
c.551T>A (p.Val184Asp)
c.578T>A (p.Val193Asp)
c.1433T>A (p.Val478Asp)
c.1247T>A (p.Val416Asp)
c.1166T>A (p.Val389Asp)
c.872T>A (p.Val291Asp)
c.1253T>A (p.Val418Asp)
2g.48688290delCA2658992084GTF2A1L,LHCGR,STON1-GTF2A1Lc.1507del (p.Val503SerfsTer7)
c.948-151del (n.948-151del)
c.3441+16610del (n.3441+16610del)
c.*251del (n.*251del)
c.1426del (p.Val476SerfsTer7)
c.276+16610del (n.276+16610del)
c.*220+5934del (n.*220+5934del)
c.550del (p.Val184SerfsTer7)
c.577del (p.Val193SerfsTer7)
c.1432del (p.Val478SerfsTer7)
c.1246del (p.Val416SerfsTer7)
c.1165del (p.Val389SerfsTer7)
c.871del (p.Val291SerfsTer7)
c.1252del (p.Val418SerfsTer7)
 gnomAD v4
2g.48688290C>ACA346746635GTF2A1L,LHCGR,STON1-GTF2A1Lc.1507G>T (p.Val503Phe)
c.948-151G>T (n.948-151G>T)
c.3441+16610C>A (n.3441+16610C>A)
c.*251G>T (n.*251G>T)
c.1426G>T (p.Val476Phe)
c.276+16610C>A (n.276+16610C>A)
c.*220+5934G>T (n.*220+5934G>T)
c.550G>T (p.Val184Phe)
c.577G>T (p.Val193Phe)
c.1432G>T (p.Val478Phe)
c.1246G>T (p.Val416Phe)
c.1165G>T (p.Val389Phe)
c.871G>T (p.Val291Phe)
c.1252G>T (p.Val418Phe)
 dbSNP
2g.48688290C=CA1248601064GTF2A1L,LHCGR,STON1-GTF2A1Lc.1507G= (p.Val503=)
c.948-151G= (n.948-151G=)
c.3441+16610C= (n.3441+16610C=)
c.*251G= (n.*251G=)
c.1426G= (p.Val476=)
c.276+16610C= (n.276+16610C=)
c.*220+5934G= (n.*220+5934G=)
c.550G= (p.Val184=)
c.577G= (p.Val193=)
c.1432G= (p.Val478=)
c.1246G= (p.Val416=)
c.1165G= (p.Val389=)
c.871G= (p.Val291=)
c.1252G= (p.Val418=)
2g.48688290C>GCA346746636GTF2A1L,LHCGR,STON1-GTF2A1Lc.1507G>C (p.Val503Leu)
c.948-151G>C (n.948-151G>C)
c.3441+16610C>G (n.3441+16610C>G)
c.*251G>C (n.*251G>C)
c.1426G>C (p.Val476Leu)
c.276+16610C>G (n.276+16610C>G)
c.*220+5934G>C (n.*220+5934G>C)
c.550G>C (p.Val184Leu)
c.577G>C (p.Val193Leu)
c.1432G>C (p.Val478Leu)
c.1246G>C (p.Val416Leu)
c.1165G>C (p.Val389Leu)
c.871G>C (p.Val291Leu)
c.1252G>C (p.Val418Leu)
2g.48688290C>TCA346746637GTF2A1L,LHCGR,STON1-GTF2A1Lc.1507G>A (p.Val503Ile)
c.948-151G>A (n.948-151G>A)
c.3441+16610C>T (n.3441+16610C>T)
c.*251G>A (n.*251G>A)
c.1426G>A (p.Val476Ile)
c.276+16610C>T (n.276+16610C>T)
c.*220+5934G>A (n.*220+5934G>A)
c.550G>A (p.Val184Ile)
c.577G>A (p.Val193Ile)
c.1432G>A (p.Val478Ile)
c.1246G>A (p.Val416Ile)
c.1165G>A (p.Val389Ile)
c.871G>A (p.Val291Ile)
c.1252G>A (p.Val418Ile)
2g.48688291A>CCA426124970GTF2A1L,LHCGR,STON1-GTF2A1Lc.1506T>G (p.Leu502=)
c.948-152T>G (n.948-152T>G)
c.3441+16611A>C (n.3441+16611A>C)
c.*250T>G (n.*250T>G)
c.1425T>G (p.Leu475=)
c.276+16611A>C (n.276+16611A>C)
c.*220+5933T>G (n.*220+5933T>G)
c.549T>G (p.Leu183=)
c.576T>G (p.Leu192=)
c.1431T>G (p.Leu477=)
c.1245T>G (p.Leu415=)
c.1164T>G (p.Leu388=)
c.870T>G (p.Leu290=)
c.1251T>G (p.Leu417=)
2g.48688291A>GCA426124972GTF2A1L,LHCGR,STON1-GTF2A1Lc.1506T>C (p.Leu502=)
c.948-152T>C (n.948-152T>C)
c.3441+16611A>G (n.3441+16611A>G)
c.*250T>C (n.*250T>C)
c.1425T>C (p.Leu475=)
c.276+16611A>G (n.276+16611A>G)
c.*220+5933T>C (n.*220+5933T>C)
c.549T>C (p.Leu183=)
c.576T>C (p.Leu192=)
c.1431T>C (p.Leu477=)
c.1245T>C (p.Leu415=)
c.1164T>C (p.Leu388=)
c.870T>C (p.Leu290=)
c.1251T>C (p.Leu417=)
 gnomAD v4
2g.48688291A>TCA426124971GTF2A1L,LHCGR,STON1-GTF2A1Lc.1506T>A (p.Leu502=)
c.948-152T>A (n.948-152T>A)
c.3441+16611A>T (n.3441+16611A>T)
c.*250T>A (n.*250T>A)
c.1425T>A (p.Leu475=)
c.276+16611A>T (n.276+16611A>T)
c.*220+5933T>A (n.*220+5933T>A)
c.549T>A (p.Leu183=)
c.576T>A (p.Leu192=)
c.1431T>A (p.Leu477=)
c.1245T>A (p.Leu415=)
c.1164T>A (p.Leu388=)
c.870T>A (p.Leu290=)
c.1251T>A (p.Leu417=)
2g.48688292A=CA1248601065GTF2A1L,LHCGR,STON1-GTF2A1Lc.1505T= (p.Leu502=)
c.948-153T= (n.948-153T=)
c.3441+16612A= (n.3441+16612A=)
c.*249T= (n.*249T=)
c.1424T= (p.Leu475=)
c.276+16612A= (n.276+16612A=)
c.*220+5932T= (n.*220+5932T=)
c.548T= (p.Leu183=)
c.575T= (p.Leu192=)
c.1430T= (p.Leu477=)
c.1244T= (p.Leu415=)
c.1163T= (p.Leu388=)
c.869T= (p.Leu290=)
c.1250T= (p.Leu417=)
2g.48688292A>CCA346746638GTF2A1L,LHCGR,STON1-GTF2A1Lc.1505T>G (p.Leu502Arg)
c.948-153T>G (n.948-153T>G)
c.3441+16612A>C (n.3441+16612A>C)
c.*249T>G (n.*249T>G)
c.1424T>G (p.Leu475Arg)
c.276+16612A>C (n.276+16612A>C)
c.*220+5932T>G (n.*220+5932T>G)
c.548T>G (p.Leu183Arg)
c.575T>G (p.Leu192Arg)
c.1430T>G (p.Leu477Arg)
c.1244T>G (p.Leu415Arg)
c.1163T>G (p.Leu388Arg)
c.869T>G (p.Leu290Arg)
c.1250T>G (p.Leu417Arg)
2g.48688292A>GCA250650GTF2A1L,LHCGR,STON1-GTF2A1Lc.1505T>C (p.Leu502Pro)
c.948-153T>C (n.948-153T>C)
c.3441+16612A>G (n.3441+16612A>G)
c.*249T>C (n.*249T>C)
c.1424T>C (p.Leu475Pro)
c.276+16612A>G (n.276+16612A>G)
c.*220+5932T>C (n.*220+5932T>C)
c.548T>C (p.Leu183Pro)
c.575T>C (p.Leu192Pro)
c.1430T>C (p.Leu477Pro)
c.1244T>C (p.Leu415Pro)
c.1163T>C (p.Leu388Pro)
c.869T>C (p.Leu290Pro)
c.1250T>C (p.Leu417Pro)
 ClinVar dbSNP
2g.48688292A>TCA346746639GTF2A1L,LHCGR,STON1-GTF2A1Lc.1505T>A (p.Leu502His)
c.948-153T>A (n.948-153T>A)
c.3441+16612A>T (n.3441+16612A>T)
c.*249T>A (n.*249T>A)
c.1424T>A (p.Leu475His)
c.276+16612A>T (n.276+16612A>T)
c.*220+5932T>A (n.*220+5932T>A)
c.548T>A (p.Leu183His)
c.575T>A (p.Leu192His)
c.1430T>A (p.Leu477His)
c.1244T>A (p.Leu415His)
c.1163T>A (p.Leu388His)
c.869T>A (p.Leu290His)
c.1250T>A (p.Leu417His)
2g.48688293G>ACA346746642GTF2A1L,LHCGR,STON1-GTF2A1Lc.1504C>T (p.Leu502Phe)
c.948-154C>T (n.948-154C>T)
c.3441+16613G>A (n.3441+16613G>A)
c.*248C>T (n.*248C>T)
c.1423C>T (p.Leu475Phe)
c.276+16613G>A (n.276+16613G>A)
c.*220+5931C>T (n.*220+5931C>T)
c.547C>T (p.Leu183Phe)
c.574C>T (p.Leu192Phe)
c.1429C>T (p.Leu477Phe)
c.1243C>T (p.Leu415Phe)
c.1162C>T (p.Leu388Phe)
c.868C>T (p.Leu290Phe)
c.1249C>T (p.Leu417Phe)
2g.48688293G>CCA346746645GTF2A1L,LHCGR,STON1-GTF2A1Lc.1504C>G (p.Leu502Val)
c.948-154C>G (n.948-154C>G)
c.3441+16613G>C (n.3441+16613G>C)
c.*248C>G (n.*248C>G)
c.1423C>G (p.Leu475Val)
c.276+16613G>C (n.276+16613G>C)
c.*220+5931C>G (n.*220+5931C>G)
c.547C>G (p.Leu183Val)
c.574C>G (p.Leu192Val)
c.1429C>G (p.Leu477Val)
c.1243C>G (p.Leu415Val)
c.1162C>G (p.Leu388Val)
c.868C>G (p.Leu290Val)
c.1249C>G (p.Leu417Val)
2g.48688293G=CA1248601066GTF2A1L,LHCGR,STON1-GTF2A1Lc.1504C= (p.Leu502=)
c.948-154C= (n.948-154C=)
c.3441+16613G= (n.3441+16613G=)
c.*248C= (n.*248C=)
c.1423C= (p.Leu475=)
c.276+16613G= (n.276+16613G=)
c.*220+5931C= (n.*220+5931C=)
c.547C= (p.Leu183=)
c.574C= (p.Leu192=)
c.1429C= (p.Leu477=)
c.1243C= (p.Leu415=)
c.1162C= (p.Leu388=)
c.868C= (p.Leu290=)
c.1249C= (p.Leu417=)
2g.48688293G>TCA346746650GTF2A1L,LHCGR,STON1-GTF2A1Lc.1504C>A (p.Leu502Ile)
c.948-154C>A (n.948-154C>A)
c.3441+16613G>T (n.3441+16613G>T)
c.*248C>A (n.*248C>A)
c.1423C>A (p.Leu475Ile)
c.276+16613G>T (n.276+16613G>T)
c.*220+5931C>A (n.*220+5931C>A)
c.547C>A (p.Leu183Ile)
c.574C>A (p.Leu192Ile)
c.1429C>A (p.Leu477Ile)
c.1243C>A (p.Leu415Ile)
c.1162C>A (p.Leu388Ile)
c.868C>A (p.Leu290Ile)
c.1249C>A (p.Leu417Ile)
 dbSNP
2g.48688294G>ACA426124978GTF2A1L,LHCGR,STON1-GTF2A1Lc.1503C>T (p.Pro501=)
c.948-155C>T (n.948-155C>T)
c.3441+16614G>A (n.3441+16614G>A)
c.*247C>T (n.*247C>T)
c.1422C>T (p.Pro474=)
c.276+16614G>A (n.276+16614G>A)
c.*220+5930C>T (n.*220+5930C>T)
c.546C>T (p.Pro182=)
c.573C>T (p.Pro191=)
c.1428C>T (p.Pro476=)
c.1242C>T (p.Pro414=)
c.1161C>T (p.Pro387=)
c.867C>T (p.Pro289=)
c.1248C>T (p.Pro416=)
 gnomAD v4 COSMIC
2g.48688294G>CCA426124979GTF2A1L,LHCGR,STON1-GTF2A1Lc.1503C>G (p.Pro501=)
c.948-155C>G (n.948-155C>G)
c.3441+16614G>C (n.3441+16614G>C)
c.*247C>G (n.*247C>G)
c.1422C>G (p.Pro474=)
c.276+16614G>C (n.276+16614G>C)
c.*220+5930C>G (n.*220+5930C>G)
c.546C>G (p.Pro182=)
c.573C>G (p.Pro191=)
c.1428C>G (p.Pro476=)
c.1242C>G (p.Pro414=)
c.1161C>G (p.Pro387=)
c.867C>G (p.Pro289=)
c.1248C>G (p.Pro416=)
2g.48688294G>TCA426124980GTF2A1L,LHCGR,STON1-GTF2A1Lc.1503C>A (p.Pro501=)
c.948-155C>A (n.948-155C>A)
c.3441+16614G>T (n.3441+16614G>T)
c.*247C>A (n.*247C>A)
c.1422C>A (p.Pro474=)
c.276+16614G>T (n.276+16614G>T)
c.*220+5930C>A (n.*220+5930C>A)
c.546C>A (p.Pro182=)
c.573C>A (p.Pro191=)
c.1428C>A (p.Pro476=)
c.1242C>A (p.Pro414=)
c.1161C>A (p.Pro387=)
c.867C>A (p.Pro289=)
c.1248C>A (p.Pro416=)
2g.48688295G>ACA346746652GTF2A1L,LHCGR,STON1-GTF2A1Lc.1502C>T (p.Pro501Leu)
c.948-156C>T (n.948-156C>T)
c.3441+16615G>A (n.3441+16615G>A)
c.*246C>T (n.*246C>T)
c.1421C>T (p.Pro474Leu)
c.276+16615G>A (n.276+16615G>A)
c.*220+5929C>T (n.*220+5929C>T)
c.545C>T (p.Pro182Leu)
c.572C>T (p.Pro191Leu)
c.1427C>T (p.Pro476Leu)
c.1241C>T (p.Pro414Leu)
c.1160C>T (p.Pro387Leu)
c.866C>T (p.Pro289Leu)
c.1247C>T (p.Pro416Leu)
2g.48688295G>CCA346746653GTF2A1L,LHCGR,STON1-GTF2A1Lc.1502C>G (p.Pro501Arg)
c.948-156C>G (n.948-156C>G)
c.3441+16615G>C (n.3441+16615G>C)
c.*246C>G (n.*246C>G)
c.1421C>G (p.Pro474Arg)
c.276+16615G>C (n.276+16615G>C)
c.*220+5929C>G (n.*220+5929C>G)
c.545C>G (p.Pro182Arg)
c.572C>G (p.Pro191Arg)
c.1427C>G (p.Pro476Arg)
c.1241C>G (p.Pro414Arg)
c.1160C>G (p.Pro387Arg)
c.866C>G (p.Pro289Arg)
c.1247C>G (p.Pro416Arg)
2g.48688295G=CA1248601067GTF2A1L,LHCGR,STON1-GTF2A1Lc.1502C= (p.Pro501=)
c.948-156C= (n.948-156C=)
c.3441+16615G= (n.3441+16615G=)
c.*246C= (n.*246C=)
c.1421C= (p.Pro474=)
c.276+16615G= (n.276+16615G=)
c.*220+5929C= (n.*220+5929C=)
c.545C= (p.Pro182=)
c.572C= (p.Pro191=)
c.1427C= (p.Pro476=)
c.1241C= (p.Pro414=)
c.1160C= (p.Pro387=)
c.866C= (p.Pro289=)
c.1247C= (p.Pro416=)
2g.48688295G>TCA346746656GTF2A1L,LHCGR,STON1-GTF2A1Lc.1502C>A (p.Pro501His)
c.948-156C>A (n.948-156C>A)
c.3441+16615G>T (n.3441+16615G>T)
c.*246C>A (n.*246C>A)
c.1421C>A (p.Pro474His)
c.276+16615G>T (n.276+16615G>T)
c.*220+5929C>A (n.*220+5929C>A)
c.545C>A (p.Pro182His)
c.572C>A (p.Pro191His)
c.1427C>A (p.Pro476His)
c.1241C>A (p.Pro414His)
c.1160C>A (p.Pro387His)
c.866C>A (p.Pro289His)
c.1247C>A (p.Pro416His)
 dbSNP
2g.48688296G>ACA346746658GTF2A1L,LHCGR,STON1-GTF2A1Lc.1501C>T (p.Pro501Ser)
c.948-157C>T (n.948-157C>T)
c.3441+16616G>A (n.3441+16616G>A)
c.*245C>T (n.*245C>T)
c.1420C>T (p.Pro474Ser)
c.276+16616G>A (n.276+16616G>A)
c.*220+5928C>T (n.*220+5928C>T)
c.544C>T (p.Pro182Ser)
c.571C>T (p.Pro191Ser)
c.1426C>T (p.Pro476Ser)
c.1240C>T (p.Pro414Ser)
c.1159C>T (p.Pro387Ser)
c.865C>T (p.Pro289Ser)
c.1246C>T (p.Pro416Ser)
2g.48688296G>CCA346746661GTF2A1L,LHCGR,STON1-GTF2A1Lc.1501C>G (p.Pro501Ala)
c.948-157C>G (n.948-157C>G)
c.3441+16616G>C (n.3441+16616G>C)
c.*245C>G (n.*245C>G)
c.1420C>G (p.Pro474Ala)
c.276+16616G>C (n.276+16616G>C)
c.*220+5928C>G (n.*220+5928C>G)
c.544C>G (p.Pro182Ala)
c.571C>G (p.Pro191Ala)
c.1426C>G (p.Pro476Ala)
c.1240C>G (p.Pro414Ala)
c.1159C>G (p.Pro387Ala)
c.865C>G (p.Pro289Ala)
c.1246C>G (p.Pro416Ala)
2g.48688296G>TCA346746664GTF2A1L,LHCGR,STON1-GTF2A1Lc.1501C>A (p.Pro501Thr)
c.948-157C>A (n.948-157C>A)
c.3441+16616G>T (n.3441+16616G>T)
c.*245C>A (n.*245C>A)
c.1420C>A (p.Pro474Thr)
c.276+16616G>T (n.276+16616G>T)
c.*220+5928C>A (n.*220+5928C>A)
c.544C>A (p.Pro182Thr)
c.571C>A (p.Pro191Thr)
c.1426C>A (p.Pro476Thr)
c.1240C>A (p.Pro414Thr)
c.1159C>A (p.Pro387Thr)
c.865C>A (p.Pro289Thr)
c.1246C>A (p.Pro416Thr)
2g.48688297C>ACA46752947GTF2A1L,LHCGR,STON1-GTF2A1Lc.1500G>T (p.Leu500Phe)
c.948-158G>T (n.948-158G>T)
c.3441+16617C>A (n.3441+16617C>A)
c.*244G>T (n.*244G>T)
c.1419G>T (p.Leu473Phe)
c.276+16617C>A (n.276+16617C>A)
c.*220+5927G>T (n.*220+5927G>T)
c.543G>T (p.Leu181Phe)
c.570G>T (p.Leu190Phe)
c.1425G>T (p.Leu475Phe)
c.1239G>T (p.Leu413Phe)
c.1158G>T (p.Leu386Phe)
c.864G>T (p.Leu288Phe)
c.1245G>T (p.Leu415Phe)
 dbSNP gnomAD v4
2g.48688297C=CA1248601068GTF2A1L,LHCGR,STON1-GTF2A1Lc.1500G= (p.Leu500=)
c.948-158G= (n.948-158G=)
c.3441+16617C= (n.3441+16617C=)
c.*244G= (n.*244G=)
c.1419G= (p.Leu473=)
c.276+16617C= (n.276+16617C=)
c.*220+5927G= (n.*220+5927G=)
c.543G= (p.Leu181=)
c.570G= (p.Leu190=)
c.1425G= (p.Leu475=)
c.1239G= (p.Leu413=)
c.1158G= (p.Leu386=)
c.864G= (p.Leu288=)
c.1245G= (p.Leu415=)
2g.48688297C>GCA346746667GTF2A1L,LHCGR,STON1-GTF2A1Lc.1500G>C (p.Leu500Phe)
c.948-158G>C (n.948-158G>C)
c.3441+16617C>G (n.3441+16617C>G)
c.*244G>C (n.*244G>C)
c.1419G>C (p.Leu473Phe)
c.276+16617C>G (n.276+16617C>G)
c.*220+5927G>C (n.*220+5927G>C)
c.543G>C (p.Leu181Phe)
c.570G>C (p.Leu190Phe)
c.1425G>C (p.Leu475Phe)
c.1239G>C (p.Leu413Phe)
c.1158G>C (p.Leu386Phe)
c.864G>C (p.Leu288Phe)
c.1245G>C (p.Leu415Phe)
2g.48688297C>TCA426124982GTF2A1L,LHCGR,STON1-GTF2A1Lc.1500G>A (p.Leu500=)
c.948-158G>A (n.948-158G>A)
c.3441+16617C>T (n.3441+16617C>T)
c.*244G>A (n.*244G>A)
c.1419G>A (p.Leu473=)
c.276+16617C>T (n.276+16617C>T)
c.*220+5927G>A (n.*220+5927G>A)
c.543G>A (p.Leu181=)
c.570G>A (p.Leu190=)
c.1425G>A (p.Leu475=)
c.1239G>A (p.Leu413=)
c.1158G>A (p.Leu386=)
c.864G>A (p.Leu288=)
c.1245G>A (p.Leu415=)
2g.48688298A>CCA346746672GTF2A1L,LHCGR,STON1-GTF2A1Lc.1499T>G (p.Leu500Trp)
c.948-159T>G (n.948-159T>G)
c.3441+16618A>C (n.3441+16618A>C)
c.*243T>G (n.*243T>G)
c.1418T>G (p.Leu473Trp)
c.276+16618A>C (n.276+16618A>C)
c.*220+5926T>G (n.*220+5926T>G)
c.542T>G (p.Leu181Trp)
c.569T>G (p.Leu190Trp)
c.1424T>G (p.Leu475Trp)
c.1238T>G (p.Leu413Trp)
c.1157T>G (p.Leu386Trp)
c.863T>G (p.Leu288Trp)
c.1244T>G (p.Leu415Trp)
2g.48688298A>GCA346746675GTF2A1L,LHCGR,STON1-GTF2A1Lc.1499T>C (p.Leu500Ser)
c.948-159T>C (n.948-159T>C)
c.3441+16618A>G (n.3441+16618A>G)
c.*243T>C (n.*243T>C)
c.1418T>C (p.Leu473Ser)
c.276+16618A>G (n.276+16618A>G)
c.*220+5926T>C (n.*220+5926T>C)
c.542T>C (p.Leu181Ser)
c.569T>C (p.Leu190Ser)
c.1424T>C (p.Leu475Ser)
c.1238T>C (p.Leu413Ser)
c.1157T>C (p.Leu386Ser)
c.863T>C (p.Leu288Ser)
c.1244T>C (p.Leu415Ser)
 gnomAD v4
2g.48688298A>TCA346746677GTF2A1L,LHCGR,STON1-GTF2A1Lc.1499T>A (p.Leu500Ter)
c.948-159T>A (n.948-159T>A)
c.3441+16618A>T (n.3441+16618A>T)
c.*243T>A (n.*243T>A)
c.1418T>A (p.Leu473Ter)
c.276+16618A>T (n.276+16618A>T)
c.*220+5926T>A (n.*220+5926T>A)
c.542T>A (p.Leu181Ter)
c.569T>A (p.Leu190Ter)
c.1424T>A (p.Leu475Ter)
c.1238T>A (p.Leu413Ter)
c.1157T>A (p.Leu386Ter)
c.863T>A (p.Leu288Ter)
c.1244T>A (p.Leu415Ter)
2g.48688299A=CA1248601069GTF2A1L,LHCGR,STON1-GTF2A1Lc.1498T= (p.Leu500=)
c.948-160T= (n.948-160T=)
c.3441+16619A= (n.3441+16619A=)
c.*242T= (n.*242T=)
c.1417T= (p.Leu473=)
c.276+16619A= (n.276+16619A=)
c.*220+5925T= (n.*220+5925T=)
c.541T= (p.Leu181=)
c.568T= (p.Leu190=)
c.1423T= (p.Leu475=)
c.1237T= (p.Leu413=)
c.1156T= (p.Leu386=)
c.862T= (p.Leu288=)
c.1243T= (p.Leu415=)
2g.48688299A>CCA346746679GTF2A1L,LHCGR,STON1-GTF2A1Lc.1498T>G (p.Leu500Val)
c.948-160T>G (n.948-160T>G)
c.3441+16619A>C (n.3441+16619A>C)
c.*242T>G (n.*242T>G)
c.1417T>G (p.Leu473Val)
c.276+16619A>C (n.276+16619A>C)
c.*220+5925T>G (n.*220+5925T>G)
c.541T>G (p.Leu181Val)
c.568T>G (p.Leu190Val)
c.1423T>G (p.Leu475Val)
c.1237T>G (p.Leu413Val)
c.1156T>G (p.Leu386Val)
c.862T>G (p.Leu288Val)
c.1243T>G (p.Leu415Val)
2g.48688299A>GCA426124985GTF2A1L,LHCGR,STON1-GTF2A1Lc.1498T>C (p.Leu500=)
c.948-160T>C (n.948-160T>C)
c.3441+16619A>G (n.3441+16619A>G)
c.*242T>C (n.*242T>C)
c.1417T>C (p.Leu473=)
c.276+16619A>G (n.276+16619A>G)
c.*220+5925T>C (n.*220+5925T>C)
c.541T>C (p.Leu181=)
c.568T>C (p.Leu190=)
c.1423T>C (p.Leu475=)
c.1237T>C (p.Leu413=)
c.1156T>C (p.Leu386=)
c.862T>C (p.Leu288=)
c.1243T>C (p.Leu415=)
 dbSNP gnomAD v2 gnomAD v4
2g.48688299A>TCA346746680GTF2A1L,LHCGR,STON1-GTF2A1Lc.1498T>A (p.Leu500Met)
c.948-160T>A (n.948-160T>A)
c.3441+16619A>T (n.3441+16619A>T)
c.*242T>A (n.*242T>A)
c.1417T>A (p.Leu473Met)
c.276+16619A>T (n.276+16619A>T)
c.*220+5925T>A (n.*220+5925T>A)
c.541T>A (p.Leu181Met)
c.568T>A (p.Leu190Met)
c.1423T>A (p.Leu475Met)
c.1237T>A (p.Leu413Met)
c.1156T>A (p.Leu386Met)
c.862T>A (p.Leu288Met)
c.1243T>A (p.Leu415Met)
2g.48688300C>ACA346746682GTF2A1L,LHCGR,STON1-GTF2A1Lc.1497G>T (p.Met499Ile)
c.948-161G>T (n.948-161G>T)
c.3441+16620C>A (n.3441+16620C>A)
c.*241G>T (n.*241G>T)
c.1416G>T (p.Met472Ile)
c.276+16620C>A (n.276+16620C>A)
c.*220+5924G>T (n.*220+5924G>T)
c.540G>T (p.Met180Ile)
c.567G>T (p.Met189Ile)
c.1422G>T (p.Met474Ile)
c.1236G>T (p.Met412Ile)
c.1155G>T (p.Met385Ile)
c.861G>T (p.Met287Ile)
c.1242G>T (p.Met414Ile)
 gnomAD v4
2g.48688300C>GCA346746684GTF2A1L,LHCGR,STON1-GTF2A1Lc.1497G>C (p.Met499Ile)
c.948-161G>C (n.948-161G>C)
c.3441+16620C>G (n.3441+16620C>G)
c.*241G>C (n.*241G>C)
c.1416G>C (p.Met472Ile)
c.276+16620C>G (n.276+16620C>G)
c.*220+5924G>C (n.*220+5924G>C)
c.540G>C (p.Met180Ile)
c.567G>C (p.Met189Ile)
c.1422G>C (p.Met474Ile)
c.1236G>C (p.Met412Ile)
c.1155G>C (p.Met385Ile)
c.861G>C (p.Met287Ile)
c.1242G>C (p.Met414Ile)
2g.48688300C>TCA346746687GTF2A1L,LHCGR,STON1-GTF2A1Lc.1497G>A (p.Met499Ile)
c.948-161G>A (n.948-161G>A)
c.3441+16620C>T (n.3441+16620C>T)
c.*241G>A (n.*241G>A)
c.1416G>A (p.Met472Ile)
c.276+16620C>T (n.276+16620C>T)
c.*220+5924G>A (n.*220+5924G>A)
c.540G>A (p.Met180Ile)
c.567G>A (p.Met189Ile)
c.1422G>A (p.Met474Ile)
c.1236G>A (p.Met412Ile)
c.1155G>A (p.Met385Ile)
c.861G>A (p.Met287Ile)
c.1242G>A (p.Met414Ile)
2g.48688301A>CCA346746689GTF2A1L,LHCGR,STON1-GTF2A1Lc.1496T>G (p.Met499Arg)
c.948-162T>G (n.948-162T>G)
c.3441+16621A>C (n.3441+16621A>C)
c.*240T>G (n.*240T>G)
c.1415T>G (p.Met472Arg)
c.276+16621A>C (n.276+16621A>C)
c.*220+5923T>G (n.*220+5923T>G)
c.539T>G (p.Met180Arg)
c.566T>G (p.Met189Arg)
c.1421T>G (p.Met474Arg)
c.1235T>G (p.Met412Arg)
c.1154T>G (p.Met385Arg)
c.860T>G (p.Met287Arg)
c.1241T>G (p.Met414Arg)
2g.48688301A>GCA346746691GTF2A1L,LHCGR,STON1-GTF2A1Lc.1496T>C (p.Met499Thr)
c.948-162T>C (n.948-162T>C)
c.3441+16621A>G (n.3441+16621A>G)
c.*240T>C (n.*240T>C)
c.1415T>C (p.Met472Thr)
c.276+16621A>G (n.276+16621A>G)
c.*220+5923T>C (n.*220+5923T>C)
c.539T>C (p.Met180Thr)
c.566T>C (p.Met189Thr)
c.1421T>C (p.Met474Thr)
c.1235T>C (p.Met412Thr)
c.1154T>C (p.Met385Thr)
c.860T>C (p.Met287Thr)
c.1241T>C (p.Met414Thr)
2g.48688301A>TCA346746693GTF2A1L,LHCGR,STON1-GTF2A1Lc.1496T>A (p.Met499Lys)
c.948-162T>A (n.948-162T>A)
c.3441+16621A>T (n.3441+16621A>T)
c.*240T>A (n.*240T>A)
c.1415T>A (p.Met472Lys)
c.276+16621A>T (n.276+16621A>T)
c.*220+5923T>A (n.*220+5923T>A)
c.539T>A (p.Met180Lys)
c.566T>A (p.Met189Lys)
c.1421T>A (p.Met474Lys)
c.1235T>A (p.Met412Lys)
c.1154T>A (p.Met385Lys)
c.860T>A (p.Met287Lys)
c.1241T>A (p.Met414Lys)
2g.48688302T>ACA346746700GTF2A1L,LHCGR,STON1-GTF2A1Lc.1495A>T (p.Met499Leu)
c.948-163A>T (n.948-163A>T)
c.3441+16622T>A (n.3441+16622T>A)
c.*239A>T (n.*239A>T)
c.1414A>T (p.Met472Leu)
c.276+16622T>A (n.276+16622T>A)
c.*220+5922A>T (n.*220+5922A>T)
c.538A>T (p.Met180Leu)
c.565A>T (p.Met189Leu)
c.1420A>T (p.Met474Leu)
c.1234A>T (p.Met412Leu)
c.1153A>T (p.Met385Leu)
c.859A>T (p.Met287Leu)
c.1240A>T (p.Met414Leu)
2g.48688302T>CCA346746698GTF2A1L,LHCGR,STON1-GTF2A1Lc.1495A>G (p.Met499Val)
c.948-163A>G (n.948-163A>G)
c.3441+16622T>C (n.3441+16622T>C)
c.*239A>G (n.*239A>G)
c.1414A>G (p.Met472Val)
c.276+16622T>C (n.276+16622T>C)
c.*220+5922A>G (n.*220+5922A>G)
c.538A>G (p.Met180Val)
c.565A>G (p.Met189Val)
c.1420A>G (p.Met474Val)
c.1234A>G (p.Met412Val)
c.1153A>G (p.Met385Val)
c.859A>G (p.Met287Val)
c.1240A>G (p.Met414Val)
 dbSNP gnomAD v2 gnomAD v4
2g.48688302T>GCA346746696GTF2A1L,LHCGR,STON1-GTF2A1Lc.1495A>C (p.Met499Leu)
c.948-163A>C (n.948-163A>C)
c.3441+16622T>G (n.3441+16622T>G)
c.*239A>C (n.*239A>C)
c.1414A>C (p.Met472Leu)
c.276+16622T>G (n.276+16622T>G)
c.*220+5922A>C (n.*220+5922A>C)
c.538A>C (p.Met180Leu)
c.565A>C (p.Met189Leu)
c.1420A>C (p.Met474Leu)
c.1234A>C (p.Met412Leu)
c.1153A>C (p.Met385Leu)
c.859A>C (p.Met287Leu)
c.1240A>C (p.Met414Leu)
2g.48688302T=CA1248601070GTF2A1L,LHCGR,STON1-GTF2A1Lc.1495A= (p.Met499=)
c.948-163A= (n.948-163A=)
c.3441+16622T= (n.3441+16622T=)
c.*239A= (n.*239A=)
c.1414A= (p.Met472=)
c.276+16622T= (n.276+16622T=)
c.*220+5922A= (n.*220+5922A=)
c.538A= (p.Met180=)
c.565A= (p.Met189=)
c.1420A= (p.Met474=)
c.1234A= (p.Met412=)
c.1153A= (p.Met385=)
c.859A= (p.Met287=)
c.1240A= (p.Met414=)
2g.48688302_48688303insCCA1248601071GTF2A1L,LHCGR,STON1-GTF2A1Lc.1494_1495insG (p.Met499AspfsTer?)
c.948-164_948-163insG (n.948-164_948-163insG)
c.3441+16622_3441+16623insC (n.3441+16622_3441+16623insC)
c.*238_*239insG (n.*238_*239insG)
c.1413_1414insG (p.Met472AspfsTer?)
c.276+16622_276+16623insC (n.276+16622_276+16623insC)
c.*220+5921_*220+5922insG (n.*220+5921_*220+5922insG)
c.537_538insG (p.Met180AspfsTer?)
c.564_565insG (p.Met189AspfsTer?)
c.1419_1420insG (p.Met474AspfsTer?)
c.1233_1234insG (p.Met412AspfsTer?)
c.1152_1153insG (p.Met385AspfsTer?)
c.858_859insG (p.Met287AspfsTer?)
c.1239_1240insG (p.Met414AspfsTer?)
 dbSNP
2g.48688303A>CCA426124988GTF2A1L,LHCGR,STON1-GTF2A1Lc.1494T>G (p.Ala498=)
c.948-164T>G (n.948-164T>G)
c.3441+16623A>C (n.3441+16623A>C)
c.*238T>G (n.*238T>G)
c.1413T>G (p.Ala471=)
c.276+16623A>C (n.276+16623A>C)
c.*220+5921T>G (n.*220+5921T>G)
c.537T>G (p.Ala179=)
c.564T>G (p.Ala188=)
c.1419T>G (p.Ala473=)
c.1233T>G (p.Ala411=)
c.1152T>G (p.Ala384=)
c.858T>G (p.Ala286=)
c.1239T>G (p.Ala413=)
2g.48688303A>GCA426124986GTF2A1L,LHCGR,STON1-GTF2A1Lc.1494T>C (p.Ala498=)
c.948-164T>C (n.948-164T>C)
c.3441+16623A>G (n.3441+16623A>G)
c.*238T>C (n.*238T>C)
c.1413T>C (p.Ala471=)
c.276+16623A>G (n.276+16623A>G)
c.*220+5921T>C (n.*220+5921T>C)
c.537T>C (p.Ala179=)
c.564T>C (p.Ala188=)
c.1419T>C (p.Ala473=)
c.1233T>C (p.Ala411=)
c.1152T>C (p.Ala384=)
c.858T>C (p.Ala286=)
c.1239T>C (p.Ala413=)
 gnomAD v4
2g.48688303A>TCA426124987GTF2A1L,LHCGR,STON1-GTF2A1Lc.1494T>A (p.Ala498=)
c.948-164T>A (n.948-164T>A)
c.3441+16623A>T (n.3441+16623A>T)
c.*238T>A (n.*238T>A)
c.1413T>A (p.Ala471=)
c.276+16623A>T (n.276+16623A>T)
c.*220+5921T>A (n.*220+5921T>A)
c.537T>A (p.Ala179=)
c.564T>A (p.Ala188=)
c.1419T>A (p.Ala473=)
c.1233T>A (p.Ala411=)
c.1152T>A (p.Ala384=)
c.858T>A (p.Ala286=)
c.1239T>A (p.Ala413=)
2g.48688304G>ACA346746703GTF2A1L,LHCGR,STON1-GTF2A1Lc.1493C>T (p.Ala498Val)
c.948-165C>T (n.948-165C>T)
c.3441+16624G>A (n.3441+16624G>A)
c.*237C>T (n.*237C>T)
c.1412C>T (p.Ala471Val)
c.276+16624G>A (n.276+16624G>A)
c.*220+5920C>T (n.*220+5920C>T)
c.536C>T (p.Ala179Val)
c.563C>T (p.Ala188Val)
c.1418C>T (p.Ala473Val)
c.1232C>T (p.Ala411Val)
c.1151C>T (p.Ala384Val)
c.857C>T (p.Ala286Val)
c.1238C>T (p.Ala413Val)
 dbSNP gnomAD v2
2g.48688304G>CCA346746709GTF2A1L,LHCGR,STON1-GTF2A1Lc.1493C>G (p.Ala498Gly)
c.948-165C>G (n.948-165C>G)
c.3441+16624G>C (n.3441+16624G>C)
c.*237C>G (n.*237C>G)
c.1412C>G (p.Ala471Gly)
c.276+16624G>C (n.276+16624G>C)
c.*220+5920C>G (n.*220+5920C>G)
c.536C>G (p.Ala179Gly)
c.563C>G (p.Ala188Gly)
c.1418C>G (p.Ala473Gly)
c.1232C>G (p.Ala411Gly)
c.1151C>G (p.Ala384Gly)
c.857C>G (p.Ala286Gly)
c.1238C>G (p.Ala413Gly)
 dbSNP
2g.48688304G=CA1248601072GTF2A1L,LHCGR,STON1-GTF2A1Lc.1493C= (p.Ala498=)
c.948-165C= (n.948-165C=)
c.3441+16624G= (n.3441+16624G=)
c.*237C= (n.*237C=)
c.1412C= (p.Ala471=)
c.276+16624G= (n.276+16624G=)
c.*220+5920C= (n.*220+5920C=)
c.536C= (p.Ala179=)
c.563C= (p.Ala188=)
c.1418C= (p.Ala473=)
c.1232C= (p.Ala411=)
c.1151C= (p.Ala384=)
c.857C= (p.Ala286=)
c.1238C= (p.Ala413=)
2g.48688304G>TCA346746711GTF2A1L,LHCGR,STON1-GTF2A1Lc.1493C>A (p.Ala498Asp)
c.948-165C>A (n.948-165C>A)
c.3441+16624G>T (n.3441+16624G>T)
c.*237C>A (n.*237C>A)
c.1412C>A (p.Ala471Asp)
c.276+16624G>T (n.276+16624G>T)
c.*220+5920C>A (n.*220+5920C>A)
c.536C>A (p.Ala179Asp)
c.563C>A (p.Ala188Asp)
c.1418C>A (p.Ala473Asp)
c.1232C>A (p.Ala411Asp)
c.1151C>A (p.Ala384Asp)
c.857C>A (p.Ala286Asp)
c.1238C>A (p.Ala413Asp)
2g.48688305C>ACA346746714GTF2A1L,LHCGR,STON1-GTF2A1Lc.1492G>T (p.Ala498Ser)
c.948-166G>T (n.948-166G>T)
c.3441+16625C>A (n.3441+16625C>A)
c.*236G>T (n.*236G>T)
c.1411G>T (p.Ala471Ser)
c.276+16625C>A (n.276+16625C>A)
c.*220+5919G>T (n.*220+5919G>T)
c.535G>T (p.Ala179Ser)
c.562G>T (p.Ala188Ser)
c.1417G>T (p.Ala473Ser)
c.1231G>T (p.Ala411Ser)
c.1150G>T (p.Ala384Ser)
c.856G>T (p.Ala286Ser)
c.1237G>T (p.Ala413Ser)
2g.48688305C>GCA346746717GTF2A1L,LHCGR,STON1-GTF2A1Lc.1492G>C (p.Ala498Pro)
c.948-166G>C (n.948-166G>C)
c.3441+16625C>G (n.3441+16625C>G)
c.*236G>C (n.*236G>C)
c.1411G>C (p.Ala471Pro)
c.276+16625C>G (n.276+16625C>G)
c.*220+5919G>C (n.*220+5919G>C)
c.535G>C (p.Ala179Pro)
c.562G>C (p.Ala188Pro)
c.1417G>C (p.Ala473Pro)
c.1231G>C (p.Ala411Pro)
c.1150G>C (p.Ala384Pro)
c.856G>C (p.Ala286Pro)
c.1237G>C (p.Ala413Pro)
2g.48688305C>TCA346746720GTF2A1L,LHCGR,STON1-GTF2A1Lc.1492G>A (p.Ala498Thr)
c.948-166G>A (n.948-166G>A)
c.3441+16625C>T (n.3441+16625C>T)
c.*236G>A (n.*236G>A)
c.1411G>A (p.Ala471Thr)
c.276+16625C>T (n.276+16625C>T)
c.*220+5919G>A (n.*220+5919G>A)
c.535G>A (p.Ala179Thr)
c.562G>A (p.Ala188Thr)
c.1417G>A (p.Ala473Thr)
c.1231G>A (p.Ala411Thr)
c.1150G>A (p.Ala384Thr)
c.856G>A (p.Ala286Thr)
c.1237G>A (p.Ala413Thr)
2g.48688306A>CCA346746721GTF2A1L,LHCGR,STON1-GTF2A1Lc.1491T>G (p.Ile497Met)
c.948-167T>G (n.948-167T>G)
c.3441+16626A>C (n.3441+16626A>C)
c.*235T>G (n.*235T>G)
c.1410T>G (p.Ile470Met)
c.276+16626A>C (n.276+16626A>C)
c.*220+5918T>G (n.*220+5918T>G)
c.534T>G (p.Ile178Met)
c.561T>G (p.Ile187Met)
c.1416T>G (p.Ile472Met)
c.1230T>G (p.Ile410Met)
c.1149T>G (p.Ile383Met)
c.855T>G (p.Ile285Met)
c.1236T>G (p.Ile412Met)
2g.48688306A>GCA426124989GTF2A1L,LHCGR,STON1-GTF2A1Lc.1491T>C (p.Ile497=)
c.948-167T>C (n.948-167T>C)
c.3441+16626A>G (n.3441+16626A>G)
c.*235T>C (n.*235T>C)
c.1410T>C (p.Ile470=)
c.276+16626A>G (n.276+16626A>G)
c.*220+5918T>C (n.*220+5918T>C)
c.534T>C (p.Ile178=)
c.561T>C (p.Ile187=)
c.1416T>C (p.Ile472=)
c.1230T>C (p.Ile410=)
c.1149T>C (p.Ile383=)
c.855T>C (p.Ile285=)
c.1236T>C (p.Ile412=)
2g.48688306A>TCA426124990GTF2A1L,LHCGR,STON1-GTF2A1Lc.1491T>A (p.Ile497=)
c.948-167T>A (n.948-167T>A)
c.3441+16626A>T (n.3441+16626A>T)
c.*235T>A (n.*235T>A)
c.1410T>A (p.Ile470=)
c.276+16626A>T (n.276+16626A>T)
c.*220+5918T>A (n.*220+5918T>A)
c.534T>A (p.Ile178=)
c.561T>A (p.Ile187=)
c.1416T>A (p.Ile472=)
c.1230T>A (p.Ile410=)
c.1149T>A (p.Ile383=)
c.855T>A (p.Ile285=)
c.1236T>A (p.Ile412=)
2g.48688307A>CCA346746722GTF2A1L,LHCGR,STON1-GTF2A1Lc.1490T>G (p.Ile497Ser)
c.948-168T>G (n.948-168T>G)
c.3441+16627A>C (n.3441+16627A>C)
c.*234T>G (n.*234T>G)
c.1409T>G (p.Ile470Ser)
c.276+16627A>C (n.276+16627A>C)
c.*220+5917T>G (n.*220+5917T>G)
c.533T>G (p.Ile178Ser)
c.560T>G (p.Ile187Ser)
c.1415T>G (p.Ile472Ser)
c.1229T>G (p.Ile410Ser)
c.1148T>G (p.Ile383Ser)
c.854T>G (p.Ile285Ser)
c.1235T>G (p.Ile412Ser)
2g.48688307A>GCA346746723GTF2A1L,LHCGR,STON1-GTF2A1Lc.1490T>C (p.Ile497Thr)
c.948-168T>C (n.948-168T>C)
c.3441+16627A>G (n.3441+16627A>G)
c.*234T>C (n.*234T>C)
c.1409T>C (p.Ile470Thr)
c.276+16627A>G (n.276+16627A>G)
c.*220+5917T>C (n.*220+5917T>C)
c.533T>C (p.Ile178Thr)
c.560T>C (p.Ile187Thr)
c.1415T>C (p.Ile472Thr)
c.1229T>C (p.Ile410Thr)
c.1148T>C (p.Ile383Thr)
c.854T>C (p.Ile285Thr)
c.1235T>C (p.Ile412Thr)
2g.48688307A>TCA346746724GTF2A1L,LHCGR,STON1-GTF2A1Lc.1490T>A (p.Ile497Asn)
c.948-168T>A (n.948-168T>A)
c.3441+16627A>T (n.3441+16627A>T)
c.*234T>A (n.*234T>A)
c.1409T>A (p.Ile470Asn)
c.276+16627A>T (n.276+16627A>T)
c.*220+5917T>A (n.*220+5917T>A)
c.533T>A (p.Ile178Asn)
c.560T>A (p.Ile187Asn)
c.1415T>A (p.Ile472Asn)
c.1229T>A (p.Ile410Asn)
c.1148T>A (p.Ile383Asn)
c.854T>A (p.Ile285Asn)
c.1235T>A (p.Ile412Asn)
2g.48688308T>ACA346746726GTF2A1L,LHCGR,STON1-GTF2A1Lc.1489A>T (p.Ile497Phe)
c.948-169A>T (n.948-169A>T)
c.3441+16628T>A (n.3441+16628T>A)
c.*233A>T (n.*233A>T)
c.1408A>T (p.Ile470Phe)
c.276+16628T>A (n.276+16628T>A)
c.*220+5916A>T (n.*220+5916A>T)
c.532A>T (p.Ile178Phe)
c.559A>T (p.Ile187Phe)
c.1414A>T (p.Ile472Phe)
c.1228A>T (p.Ile410Phe)
c.1147A>T (p.Ile383Phe)
c.853A>T (p.Ile285Phe)
c.1234A>T (p.Ile412Phe)
2g.48688308T>CCA346746728GTF2A1L,LHCGR,STON1-GTF2A1Lc.1489A>G (p.Ile497Val)
c.948-169A>G (n.948-169A>G)
c.3441+16628T>C (n.3441+16628T>C)
c.*233A>G (n.*233A>G)
c.1408A>G (p.Ile470Val)
c.276+16628T>C (n.276+16628T>C)
c.*220+5916A>G (n.*220+5916A>G)
c.532A>G (p.Ile178Val)
c.559A>G (p.Ile187Val)
c.1414A>G (p.Ile472Val)
c.1228A>G (p.Ile410Val)
c.1147A>G (p.Ile383Val)
c.853A>G (p.Ile285Val)
c.1234A>G (p.Ile412Val)
2g.48688308T>GCA346746730GTF2A1L,LHCGR,STON1-GTF2A1Lc.1489A>C (p.Ile497Leu)
c.948-169A>C (n.948-169A>C)
c.3441+16628T>G (n.3441+16628T>G)
c.*233A>C (n.*233A>C)
c.1408A>C (p.Ile470Leu)
c.276+16628T>G (n.276+16628T>G)
c.*220+5916A>C (n.*220+5916A>C)
c.532A>C (p.Ile178Leu)
c.559A>C (p.Ile187Leu)
c.1414A>C (p.Ile472Leu)
c.1228A>C (p.Ile410Leu)
c.1147A>C (p.Ile383Leu)
c.853A>C (p.Ile285Leu)
c.1234A>C (p.Ile412Leu)
2g.48688309T>ACA426124994GTF2A1L,LHCGR,STON1-GTF2A1Lc.1488A>T (p.Leu496=)
c.948-170A>T (n.948-170A>T)
c.3441+16629T>A (n.3441+16629T>A)
c.*232A>T (n.*232A>T)
c.1407A>T (p.Leu469=)
c.276+16629T>A (n.276+16629T>A)
c.*220+5915A>T (n.*220+5915A>T)
c.531A>T (p.Leu177=)
c.558A>T (p.Leu186=)
c.1413A>T (p.Leu471=)
c.1227A>T (p.Leu409=)
c.1146A>T (p.Leu382=)
c.852A>T (p.Leu284=)
c.1233A>T (p.Leu411=)
2g.48688309T>CCA426124995GTF2A1L,LHCGR,STON1-GTF2A1Lc.1488A>G (p.Leu496=)
c.948-170A>G (n.948-170A>G)
c.3441+16629T>C (n.3441+16629T>C)
c.*232A>G (n.*232A>G)
c.1407A>G (p.Leu469=)
c.276+16629T>C (n.276+16629T>C)
c.*220+5915A>G (n.*220+5915A>G)
c.531A>G (p.Leu177=)
c.558A>G (p.Leu186=)
c.1413A>G (p.Leu471=)
c.1227A>G (p.Leu409=)
c.1146A>G (p.Leu382=)
c.852A>G (p.Leu284=)
c.1233A>G (p.Leu411=)
 dbSNP gnomAD v4
2g.48688309T>GCA426124996GTF2A1L,LHCGR,STON1-GTF2A1Lc.1488A>C (p.Leu496=)
c.948-170A>C (n.948-170A>C)
c.3441+16629T>G (n.3441+16629T>G)
c.*232A>C (n.*232A>C)
c.1407A>C (p.Leu469=)
c.276+16629T>G (n.276+16629T>G)
c.*220+5915A>C (n.*220+5915A>C)
c.531A>C (p.Leu177=)
c.558A>C (p.Leu186=)
c.1413A>C (p.Leu471=)
c.1227A>C (p.Leu409=)
c.1146A>C (p.Leu382=)
c.852A>C (p.Leu284=)
c.1233A>C (p.Leu411=)
2g.48688310A>CCA346746734GTF2A1L,LHCGR,STON1-GTF2A1Lc.1487T>G (p.Leu496Arg)
c.948-171T>G (n.948-171T>G)
c.3441+16630A>C (n.3441+16630A>C)
c.*231T>G (n.*231T>G)
c.1406T>G (p.Leu469Arg)
c.276+16630A>C (n.276+16630A>C)
c.*220+5914T>G (n.*220+5914T>G)
c.530T>G (p.Leu177Arg)
c.557T>G (p.Leu186Arg)
c.1412T>G (p.Leu471Arg)
c.1226T>G (p.Leu409Arg)
c.1145T>G (p.Leu382Arg)
c.851T>G (p.Leu284Arg)
c.1232T>G (p.Leu411Arg)
2g.48688310A>GCA346746736GTF2A1L,LHCGR,STON1-GTF2A1Lc.1487T>C (p.Leu496Pro)
c.948-171T>C (n.948-171T>C)
c.3441+16630A>G (n.3441+16630A>G)
c.*231T>C (n.*231T>C)
c.1406T>C (p.Leu469Pro)
c.276+16630A>G (n.276+16630A>G)
c.*220+5914T>C (n.*220+5914T>C)
c.530T>C (p.Leu177Pro)
c.557T>C (p.Leu186Pro)
c.1412T>C (p.Leu471Pro)
c.1226T>C (p.Leu409Pro)
c.1145T>C (p.Leu382Pro)
c.851T>C (p.Leu284Pro)
c.1232T>C (p.Leu411Pro)
2g.48688310A>TCA346746733GTF2A1L,LHCGR,STON1-GTF2A1Lc.1487T>A (p.Leu496Gln)
c.948-171T>A (n.948-171T>A)
c.3441+16630A>T (n.3441+16630A>T)
c.*231T>A (n.*231T>A)
c.1406T>A (p.Leu469Gln)
c.276+16630A>T (n.276+16630A>T)
c.*220+5914T>A (n.*220+5914T>A)
c.530T>A (p.Leu177Gln)
c.557T>A (p.Leu186Gln)
c.1412T>A (p.Leu471Gln)
c.1226T>A (p.Leu409Gln)
c.1145T>A (p.Leu382Gln)
c.851T>A (p.Leu284Gln)
c.1232T>A (p.Leu411Gln)
2g.48688311G>ACA1653023GTF2A1L,LHCGR,STON1-GTF2A1Lc.1486C>T (p.Leu496=)
c.948-172C>T (n.948-172C>T)
c.3441+16631G>A (n.3441+16631G>A)
c.*230C>T (n.*230C>T)
c.1405C>T (p.Leu469=)
c.276+16631G>A (n.276+16631G>A)
c.*220+5913C>T (n.*220+5913C>T)
c.529C>T (p.Leu177=)
c.556C>T (p.Leu186=)
c.1411C>T (p.Leu471=)
c.1225C>T (p.Leu409=)
c.1144C>T (p.Leu382=)
c.850C>T (p.Leu284=)
c.1231C>T (p.Leu411=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688311G>CCA46752951GTF2A1L,LHCGR,STON1-GTF2A1Lc.1486C>G (p.Leu496Val)
c.948-172C>G (n.948-172C>G)
c.3441+16631G>C (n.3441+16631G>C)
c.*230C>G (n.*230C>G)
c.1405C>G (p.Leu469Val)
c.276+16631G>C (n.276+16631G>C)
c.*220+5913C>G (n.*220+5913C>G)
c.529C>G (p.Leu177Val)
c.556C>G (p.Leu186Val)
c.1411C>G (p.Leu471Val)
c.1225C>G (p.Leu409Val)
c.1144C>G (p.Leu382Val)
c.850C>G (p.Leu284Val)
c.1231C>G (p.Leu411Val)
 dbSNP gnomAD v2 gnomAD v4
2g.48688311G=CA1248601073GTF2A1L,LHCGR,STON1-GTF2A1Lc.1486C= (p.Leu496=)
c.948-172C= (n.948-172C=)
c.3441+16631G= (n.3441+16631G=)
c.*230C= (n.*230C=)
c.1405C= (p.Leu469=)
c.276+16631G= (n.276+16631G=)
c.*220+5913C= (n.*220+5913C=)
c.529C= (p.Leu177=)
c.556C= (p.Leu186=)
c.1411C= (p.Leu471=)
c.1225C= (p.Leu409=)
c.1144C= (p.Leu382=)
c.850C= (p.Leu284=)
c.1231C= (p.Leu411=)
2g.48688311G>TCA346746741GTF2A1L,LHCGR,STON1-GTF2A1Lc.1486C>A (p.Leu496Ile)
c.948-172C>A (n.948-172C>A)
c.3441+16631G>T (n.3441+16631G>T)
c.*230C>A (n.*230C>A)
c.1405C>A (p.Leu469Ile)
c.276+16631G>T (n.276+16631G>T)
c.*220+5913C>A (n.*220+5913C>A)
c.529C>A (p.Leu177Ile)
c.556C>A (p.Leu186Ile)
c.1411C>A (p.Leu471Ile)
c.1225C>A (p.Leu409Ile)
c.1144C>A (p.Leu382Ile)
c.850C>A (p.Leu284Ile)
c.1231C>A (p.Leu411Ile)
2g.48688312A=CA1248601074GTF2A1L,LHCGR,STON1-GTF2A1Lc.1485T= (p.Ser495=)
c.948-173T= (n.948-173T=)
c.3441+16632A= (n.3441+16632A=)
c.*229T= (n.*229T=)
c.1404T= (p.Ser468=)
c.276+16632A= (n.276+16632A=)
c.*220+5912T= (n.*220+5912T=)
c.528T= (p.Ser176=)
c.555T= (p.Ser185=)
c.1410T= (p.Ser470=)
c.1224T= (p.Ser408=)
c.1143T= (p.Ser381=)
c.849T= (p.Ser283=)
c.1230T= (p.Ser410=)
2g.48688312A>CCA426124998GTF2A1L,LHCGR,STON1-GTF2A1Lc.1485T>G (p.Ser495=)
c.948-173T>G (n.948-173T>G)
c.3441+16632A>C (n.3441+16632A>C)
c.*229T>G (n.*229T>G)
c.1404T>G (p.Ser468=)
c.276+16632A>C (n.276+16632A>C)
c.*220+5912T>G (n.*220+5912T>G)
c.528T>G (p.Ser176=)
c.555T>G (p.Ser185=)
c.1410T>G (p.Ser470=)
c.1224T>G (p.Ser408=)
c.1143T>G (p.Ser381=)
c.849T>G (p.Ser283=)
c.1230T>G (p.Ser410=)
2g.48688312A>GCA426125000GTF2A1L,LHCGR,STON1-GTF2A1Lc.1485T>C (p.Ser495=)
c.948-173T>C (n.948-173T>C)
c.3441+16632A>G (n.3441+16632A>G)
c.*229T>C (n.*229T>C)
c.1404T>C (p.Ser468=)
c.276+16632A>G (n.276+16632A>G)
c.*220+5912T>C (n.*220+5912T>C)
c.528T>C (p.Ser176=)
c.555T>C (p.Ser185=)
c.1410T>C (p.Ser470=)
c.1224T>C (p.Ser408=)
c.1143T>C (p.Ser381=)
c.849T>C (p.Ser283=)
c.1230T>C (p.Ser410=)
2g.48688312A>TCA426125002GTF2A1L,LHCGR,STON1-GTF2A1Lc.1485T>A (p.Ser495=)
c.948-173T>A (n.948-173T>A)
c.3441+16632A>T (n.3441+16632A>T)
c.*229T>A (n.*229T>A)
c.1404T>A (p.Ser468=)
c.276+16632A>T (n.276+16632A>T)
c.*220+5912T>A (n.*220+5912T>A)
c.528T>A (p.Ser176=)
c.555T>A (p.Ser185=)
c.1410T>A (p.Ser470=)
c.1224T>A (p.Ser408=)
c.1143T>A (p.Ser381=)
c.849T>A (p.Ser283=)
c.1230T>A (p.Ser410=)
2g.48688312_48688313insTCA1248601075GTF2A1L,LHCGR,STON1-GTF2A1Lc.1484_1485insA (p.Leu496SerfsTer?)
c.948-174_948-173insA (n.948-174_948-173insA)
c.3441+16632_3441+16633insT (n.3441+16632_3441+16633insT)
c.*228_*229insA (n.*228_*229insA)
c.1403_1404insA (p.Leu469SerfsTer?)
c.276+16632_276+16633insT (n.276+16632_276+16633insT)
c.*220+5911_*220+5912insA (n.*220+5911_*220+5912insA)
c.527_528insA (p.Leu177SerfsTer?)
c.554_555insA (p.Leu186SerfsTer?)
c.1409_1410insA (p.Leu471SerfsTer?)
c.1223_1224insA (p.Leu409SerfsTer?)
c.1142_1143insA (p.Leu382SerfsTer?)
c.848_849insA (p.Leu284SerfsTer?)
c.1229_1230insA (p.Leu411SerfsTer?)
 dbSNP
2g.48688313G>ACA346746745GTF2A1L,LHCGR,STON1-GTF2A1Lc.1484C>T (p.Ser495Phe)
c.948-174C>T (n.948-174C>T)
c.3441+16633G>A (n.3441+16633G>A)
c.*228C>T (n.*228C>T)
c.1403C>T (p.Ser468Phe)
c.276+16633G>A (n.276+16633G>A)
c.*220+5911C>T (n.*220+5911C>T)
c.527C>T (p.Ser176Phe)
c.554C>T (p.Ser185Phe)
c.1409C>T (p.Ser470Phe)
c.1223C>T (p.Ser408Phe)
c.1142C>T (p.Ser381Phe)
c.848C>T (p.Ser283Phe)
c.1229C>T (p.Ser410Phe)
 COSMIC
2g.48688313G>CCA346746747GTF2A1L,LHCGR,STON1-GTF2A1Lc.1484C>G (p.Ser495Cys)
c.948-174C>G (n.948-174C>G)
c.3441+16633G>C (n.3441+16633G>C)
c.*228C>G (n.*228C>G)
c.1403C>G (p.Ser468Cys)
c.276+16633G>C (n.276+16633G>C)
c.*220+5911C>G (n.*220+5911C>G)
c.527C>G (p.Ser176Cys)
c.554C>G (p.Ser185Cys)
c.1409C>G (p.Ser470Cys)
c.1223C>G (p.Ser408Cys)
c.1142C>G (p.Ser381Cys)
c.848C>G (p.Ser283Cys)
c.1229C>G (p.Ser410Cys)
2g.48688313G>TCA346746749GTF2A1L,LHCGR,STON1-GTF2A1Lc.1484C>A (p.Ser495Tyr)
c.948-174C>A (n.948-174C>A)
c.3441+16633G>T (n.3441+16633G>T)
c.*228C>A (n.*228C>A)
c.1403C>A (p.Ser468Tyr)
c.276+16633G>T (n.276+16633G>T)
c.*220+5911C>A (n.*220+5911C>A)
c.527C>A (p.Ser176Tyr)
c.554C>A (p.Ser185Tyr)
c.1409C>A (p.Ser470Tyr)
c.1223C>A (p.Ser408Tyr)
c.1142C>A (p.Ser381Tyr)
c.848C>A (p.Ser283Tyr)
c.1229C>A (p.Ser410Tyr)
2g.48688314A>CCA346746752GTF2A1L,LHCGR,STON1-GTF2A1Lc.1483T>G (p.Ser495Ala)
c.948-175T>G (n.948-175T>G)
c.3441+16634A>C (n.3441+16634A>C)
c.*227T>G (n.*227T>G)
c.1402T>G (p.Ser468Ala)
c.276+16634A>C (n.276+16634A>C)
c.*220+5910T>G (n.*220+5910T>G)
c.526T>G (p.Ser176Ala)
c.553T>G (p.Ser185Ala)
c.1408T>G (p.Ser470Ala)
c.1222T>G (p.Ser408Ala)
c.1141T>G (p.Ser381Ala)
c.847T>G (p.Ser283Ala)
c.1228T>G (p.Ser410Ala)
2g.48688314A>GCA346746753GTF2A1L,LHCGR,STON1-GTF2A1Lc.1483T>C (p.Ser495Pro)
c.948-175T>C (n.948-175T>C)
c.3441+16634A>G (n.3441+16634A>G)
c.*227T>C (n.*227T>C)
c.1402T>C (p.Ser468Pro)
c.276+16634A>G (n.276+16634A>G)
c.*220+5910T>C (n.*220+5910T>C)
c.526T>C (p.Ser176Pro)
c.553T>C (p.Ser185Pro)
c.1408T>C (p.Ser470Pro)
c.1222T>C (p.Ser408Pro)
c.1141T>C (p.Ser381Pro)
c.847T>C (p.Ser283Pro)
c.1228T>C (p.Ser410Pro)
2g.48688314A>TCA346746754GTF2A1L,LHCGR,STON1-GTF2A1Lc.1483T>A (p.Ser495Thr)
c.948-175T>A (n.948-175T>A)
c.3441+16634A>T (n.3441+16634A>T)
c.*227T>A (n.*227T>A)
c.1402T>A (p.Ser468Thr)
c.276+16634A>T (n.276+16634A>T)
c.*220+5910T>A (n.*220+5910T>A)
c.526T>A (p.Ser176Thr)
c.553T>A (p.Ser185Thr)
c.1408T>A (p.Ser470Thr)
c.1222T>A (p.Ser408Thr)
c.1141T>A (p.Ser381Thr)
c.847T>A (p.Ser283Thr)
c.1228T>A (p.Ser410Thr)
2g.48688315A=CA1248601076GTF2A1L,LHCGR,STON1-GTF2A1Lc.1482T= (p.Ser494=)
c.948-176T= (n.948-176T=)
c.3441+16635A= (n.3441+16635A=)
c.*226T= (n.*226T=)
c.1401T= (p.Ser467=)
c.276+16635A= (n.276+16635A=)
c.*220+5909T= (n.*220+5909T=)
c.525T= (p.Ser175=)
c.552T= (p.Ser184=)
c.1407T= (p.Ser469=)
c.1221T= (p.Ser407=)
c.1140T= (p.Ser380=)
c.846T= (p.Ser282=)
c.1227T= (p.Ser409=)
2g.48688315A>CCA426125003GTF2A1L,LHCGR,STON1-GTF2A1Lc.1482T>G (p.Ser494=)
c.948-176T>G (n.948-176T>G)
c.3441+16635A>C (n.3441+16635A>C)
c.*226T>G (n.*226T>G)
c.1401T>G (p.Ser467=)
c.276+16635A>C (n.276+16635A>C)
c.*220+5909T>G (n.*220+5909T>G)
c.525T>G (p.Ser175=)
c.552T>G (p.Ser184=)
c.1407T>G (p.Ser469=)
c.1221T>G (p.Ser407=)
c.1140T>G (p.Ser380=)
c.846T>G (p.Ser282=)
c.1227T>G (p.Ser409=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688315A>GCA426125004GTF2A1L,LHCGR,STON1-GTF2A1Lc.1482T>C (p.Ser494=)
c.948-176T>C (n.948-176T>C)
c.3441+16635A>G (n.3441+16635A>G)
c.*226T>C (n.*226T>C)
c.1401T>C (p.Ser467=)
c.276+16635A>G (n.276+16635A>G)
c.*220+5909T>C (n.*220+5909T>C)
c.525T>C (p.Ser175=)
c.552T>C (p.Ser184=)
c.1407T>C (p.Ser469=)
c.1221T>C (p.Ser407=)
c.1140T>C (p.Ser380=)
c.846T>C (p.Ser282=)
c.1227T>C (p.Ser409=)
 COSMIC
2g.48688315A>TCA426125005GTF2A1L,LHCGR,STON1-GTF2A1Lc.1482T>A (p.Ser494=)
c.948-176T>A (n.948-176T>A)
c.3441+16635A>T (n.3441+16635A>T)
c.*226T>A (n.*226T>A)
c.1401T>A (p.Ser467=)
c.276+16635A>T (n.276+16635A>T)
c.*220+5909T>A (n.*220+5909T>A)
c.525T>A (p.Ser175=)
c.552T>A (p.Ser184=)
c.1407T>A (p.Ser469=)
c.1221T>A (p.Ser407=)
c.1140T>A (p.Ser380=)
c.846T>A (p.Ser282=)
c.1227T>A (p.Ser409=)
2g.48688316G>ACA346746757GTF2A1L,LHCGR,STON1-GTF2A1Lc.1481C>T (p.Ser494Phe)
c.948-177C>T (n.948-177C>T)
c.3441+16636G>A (n.3441+16636G>A)
c.*225C>T (n.*225C>T)
c.1400C>T (p.Ser467Phe)
c.276+16636G>A (n.276+16636G>A)
c.*220+5908C>T (n.*220+5908C>T)
c.524C>T (p.Ser175Phe)
c.551C>T (p.Ser184Phe)
c.1406C>T (p.Ser469Phe)
c.1220C>T (p.Ser407Phe)
c.1139C>T (p.Ser380Phe)
c.845C>T (p.Ser282Phe)
c.1226C>T (p.Ser409Phe)
2g.48688316G>CCA346746758GTF2A1L,LHCGR,STON1-GTF2A1Lc.1481C>G (p.Ser494Cys)
c.948-177C>G (n.948-177C>G)
c.3441+16636G>C (n.3441+16636G>C)
c.*225C>G (n.*225C>G)
c.1400C>G (p.Ser467Cys)
c.276+16636G>C (n.276+16636G>C)
c.*220+5908C>G (n.*220+5908C>G)
c.524C>G (p.Ser175Cys)
c.551C>G (p.Ser184Cys)
c.1406C>G (p.Ser469Cys)
c.1220C>G (p.Ser407Cys)
c.1139C>G (p.Ser380Cys)
c.845C>G (p.Ser282Cys)
c.1226C>G (p.Ser409Cys)
 dbSNP gnomAD v3 gnomAD v4
2g.48688316G>TCA346746760GTF2A1L,LHCGR,STON1-GTF2A1Lc.1481C>A (p.Ser494Tyr)
c.948-177C>A (n.948-177C>A)
c.3441+16636G>T (n.3441+16636G>T)
c.*225C>A (n.*225C>A)
c.1400C>A (p.Ser467Tyr)
c.276+16636G>T (n.276+16636G>T)
c.*220+5908C>A (n.*220+5908C>A)
c.524C>A (p.Ser175Tyr)
c.551C>A (p.Ser184Tyr)
c.1406C>A (p.Ser469Tyr)
c.1220C>A (p.Ser407Tyr)
c.1139C>A (p.Ser380Tyr)
c.845C>A (p.Ser282Tyr)
c.1226C>A (p.Ser409Tyr)
2g.48688316_48688317delinsGACA1248601077GTF2A1L,LHCGR,STON1-GTF2A1Lc.1480_1481delinsTC (p.Ser494=)
c.948-178_948-177delinsTC (n.948-178_948-177delinsTC)
c.3441+16636_3441+16637delinsGA (n.3441+16636_3441+16637delinsGA)
c.*224_*225delinsTC (n.*224_*225delinsTC)
c.1399_1400delinsTC (p.Ser467=)
c.276+16636_276+16637delinsGA (n.276+16636_276+16637delinsGA)
c.*220+5907_*220+5908delinsTC (n.*220+5907_*220+5908delinsTC)
c.523_524delinsTC (p.Ser175=)
c.550_551delinsTC (p.Ser184=)
c.1405_1406delinsTC (p.Ser469=)
c.1219_1220delinsTC (p.Ser407=)
c.1138_1139delinsTC (p.Ser380=)
c.844_845delinsTC (p.Ser282=)
c.1225_1226delinsTC (p.Ser409=)
2g.48688317A=CA1248601078GTF2A1L,LHCGR,STON1-GTF2A1Lc.1480T= (p.Ser494=)
c.948-178T= (n.948-178T=)
c.3441+16637A= (n.3441+16637A=)
c.*224T= (n.*224T=)
c.1399T= (p.Ser467=)
c.276+16637A= (n.276+16637A=)
c.*220+5907T= (n.*220+5907T=)
c.523T= (p.Ser175=)
c.550T= (p.Ser184=)
c.1405T= (p.Ser469=)
c.1219T= (p.Ser407=)
c.1138T= (p.Ser380=)
c.844T= (p.Ser282=)
c.1225T= (p.Ser409=)
2g.48688317A>CCA346746768GTF2A1L,LHCGR,STON1-GTF2A1Lc.1480T>G (p.Ser494Ala)
c.948-178T>G (n.948-178T>G)
c.3441+16637A>C (n.3441+16637A>C)
c.*224T>G (n.*224T>G)
c.1399T>G (p.Ser467Ala)
c.276+16637A>C (n.276+16637A>C)
c.*220+5907T>G (n.*220+5907T>G)
c.523T>G (p.Ser175Ala)
c.550T>G (p.Ser184Ala)
c.1405T>G (p.Ser469Ala)
c.1219T>G (p.Ser407Ala)
c.1138T>G (p.Ser380Ala)
c.844T>G (p.Ser282Ala)
c.1225T>G (p.Ser409Ala)
2g.48688317A>GCA346746765GTF2A1L,LHCGR,STON1-GTF2A1Lc.1480T>C (p.Ser494Pro)
c.948-178T>C (n.948-178T>C)
c.3441+16637A>G (n.3441+16637A>G)
c.*224T>C (n.*224T>C)
c.1399T>C (p.Ser467Pro)
c.276+16637A>G (n.276+16637A>G)
c.*220+5907T>C (n.*220+5907T>C)
c.523T>C (p.Ser175Pro)
c.550T>C (p.Ser184Pro)
c.1405T>C (p.Ser469Pro)
c.1219T>C (p.Ser407Pro)
c.1138T>C (p.Ser380Pro)
c.844T>C (p.Ser282Pro)
c.1225T>C (p.Ser409Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.48688317A>TCA346746762GTF2A1L,LHCGR,STON1-GTF2A1Lc.1480T>A (p.Ser494Thr)
c.948-178T>A (n.948-178T>A)
c.3441+16637A>T (n.3441+16637A>T)
c.*224T>A (n.*224T>A)
c.1399T>A (p.Ser467Thr)
c.276+16637A>T (n.276+16637A>T)
c.*220+5907T>A (n.*220+5907T>A)
c.523T>A (p.Ser175Thr)
c.550T>A (p.Ser184Thr)
c.1405T>A (p.Ser469Thr)
c.1219T>A (p.Ser407Thr)
c.1138T>A (p.Ser380Thr)
c.844T>A (p.Ser282Thr)
c.1225T>A (p.Ser409Thr)
2g.48688320delCA532706163GTF2A1L,LHCGR,STON1-GTF2A1Lc.1480del (p.Ser494LeufsTer3)
c.948-178del (n.948-178del)
c.3441+16640del (n.3441+16640del)
c.*224del (n.*224del)
c.1399del (p.Ser467LeufsTer3)
c.276+16640del (n.276+16640del)
c.*220+5907del (n.*220+5907del)
c.523del (p.Ser175LeufsTer3)
c.550del (p.Ser184LeufsTer3)
c.1405del (p.Ser469LeufsTer3)
c.1219del (p.Ser407LeufsTer3)
c.1138del (p.Ser380LeufsTer3)
c.844del (p.Ser282LeufsTer3)
c.1225del (p.Ser409LeufsTer3)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688318A>CCA346746771GTF2A1L,LHCGR,STON1-GTF2A1Lc.1479T>G (p.Phe493Leu)
c.948-179T>G (n.948-179T>G)
c.3441+16638A>C (n.3441+16638A>C)
c.*223T>G (n.*223T>G)
c.1398T>G (p.Phe466Leu)
c.276+16638A>C (n.276+16638A>C)
c.*220+5906T>G (n.*220+5906T>G)
c.522T>G (p.Phe174Leu)
c.549T>G (p.Phe183Leu)
c.1404T>G (p.Phe468Leu)
c.1218T>G (p.Phe406Leu)
c.1137T>G (p.Phe379Leu)
c.843T>G (p.Phe281Leu)
c.1224T>G (p.Phe408Leu)
2g.48688318A>GCA426125010GTF2A1L,LHCGR,STON1-GTF2A1Lc.1479T>C (p.Phe493=)
c.948-179T>C (n.948-179T>C)
c.3441+16638A>G (n.3441+16638A>G)
c.*223T>C (n.*223T>C)
c.1398T>C (p.Phe466=)
c.276+16638A>G (n.276+16638A>G)
c.*220+5906T>C (n.*220+5906T>C)
c.522T>C (p.Phe174=)
c.549T>C (p.Phe183=)
c.1404T>C (p.Phe468=)
c.1218T>C (p.Phe406=)
c.1137T>C (p.Phe379=)
c.843T>C (p.Phe281=)
c.1224T>C (p.Phe408=)
2g.48688318A>TCA346746773GTF2A1L,LHCGR,STON1-GTF2A1Lc.1479T>A (p.Phe493Leu)
c.948-179T>A (n.948-179T>A)
c.3441+16638A>T (n.3441+16638A>T)
c.*223T>A (n.*223T>A)
c.1398T>A (p.Phe466Leu)
c.276+16638A>T (n.276+16638A>T)
c.*220+5906T>A (n.*220+5906T>A)
c.522T>A (p.Phe174Leu)
c.549T>A (p.Phe183Leu)
c.1404T>A (p.Phe468Leu)
c.1218T>A (p.Phe406Leu)
c.1137T>A (p.Phe379Leu)
c.843T>A (p.Phe281Leu)
c.1224T>A (p.Phe408Leu)
2g.48688319A>CCA346746775GTF2A1L,LHCGR,STON1-GTF2A1Lc.1478T>G (p.Phe493Cys)
c.948-180T>G (n.948-180T>G)
c.3441+16639A>C (n.3441+16639A>C)
c.*222T>G (n.*222T>G)
c.1397T>G (p.Phe466Cys)
c.276+16639A>C (n.276+16639A>C)
c.*220+5905T>G (n.*220+5905T>G)
c.521T>G (p.Phe174Cys)
c.548T>G (p.Phe183Cys)
c.1403T>G (p.Phe468Cys)
c.1217T>G (p.Phe406Cys)
c.1136T>G (p.Phe379Cys)
c.842T>G (p.Phe281Cys)
c.1223T>G (p.Phe408Cys)
2g.48688319A>GCA346746777GTF2A1L,LHCGR,STON1-GTF2A1Lc.1478T>C (p.Phe493Ser)
c.948-180T>C (n.948-180T>C)
c.3441+16639A>G (n.3441+16639A>G)
c.*222T>C (n.*222T>C)
c.1397T>C (p.Phe466Ser)
c.276+16639A>G (n.276+16639A>G)
c.*220+5905T>C (n.*220+5905T>C)
c.521T>C (p.Phe174Ser)
c.548T>C (p.Phe183Ser)
c.1403T>C (p.Phe468Ser)
c.1217T>C (p.Phe406Ser)
c.1136T>C (p.Phe379Ser)
c.842T>C (p.Phe281Ser)
c.1223T>C (p.Phe408Ser)
2g.48688319A>TCA346746779GTF2A1L,LHCGR,STON1-GTF2A1Lc.1478T>A (p.Phe493Tyr)
c.948-180T>A (n.948-180T>A)
c.3441+16639A>T (n.3441+16639A>T)
c.*222T>A (n.*222T>A)
c.1397T>A (p.Phe466Tyr)
c.276+16639A>T (n.276+16639A>T)
c.*220+5905T>A (n.*220+5905T>A)
c.521T>A (p.Phe174Tyr)
c.548T>A (p.Phe183Tyr)
c.1403T>A (p.Phe468Tyr)
c.1217T>A (p.Phe406Tyr)
c.1136T>A (p.Phe379Tyr)
c.842T>A (p.Phe281Tyr)
c.1223T>A (p.Phe408Tyr)
2g.48688320A>CCA346746781GTF2A1L,LHCGR,STON1-GTF2A1Lc.1477T>G (p.Phe493Val)
c.948-181T>G (n.948-181T>G)
c.3441+16640A>C (n.3441+16640A>C)
c.*221T>G (n.*221T>G)
c.1396T>G (p.Phe466Val)
c.276+16640A>C (n.276+16640A>C)
c.*220+5904T>G (n.*220+5904T>G)
c.520T>G (p.Phe174Val)
c.547T>G (p.Phe183Val)
c.1402T>G (p.Phe468Val)
c.1216T>G (p.Phe406Val)
c.1135T>G (p.Phe379Val)
c.841T>G (p.Phe281Val)
c.1222T>G (p.Phe408Val)
2g.48688320A>GCA346746782GTF2A1L,LHCGR,STON1-GTF2A1Lc.1477T>C (p.Phe493Leu)
c.948-181T>C (n.948-181T>C)
c.3441+16640A>G (n.3441+16640A>G)
c.*221T>C (n.*221T>C)
c.1396T>C (p.Phe466Leu)
c.276+16640A>G (n.276+16640A>G)
c.*220+5904T>C (n.*220+5904T>C)
c.520T>C (p.Phe174Leu)
c.547T>C (p.Phe183Leu)
c.1402T>C (p.Phe468Leu)
c.1216T>C (p.Phe406Leu)
c.1135T>C (p.Phe379Leu)
c.841T>C (p.Phe281Leu)
c.1222T>C (p.Phe408Leu)
2g.48688320A>TCA346746783GTF2A1L,LHCGR,STON1-GTF2A1Lc.1477T>A (p.Phe493Ile)
c.948-181T>A (n.948-181T>A)
c.3441+16640A>T (n.3441+16640A>T)
c.*221T>A (n.*221T>A)
c.1396T>A (p.Phe466Ile)
c.276+16640A>T (n.276+16640A>T)
c.*220+5904T>A (n.*220+5904T>A)
c.520T>A (p.Phe174Ile)
c.547T>A (p.Phe183Ile)
c.1402T>A (p.Phe468Ile)
c.1216T>A (p.Phe406Ile)
c.1135T>A (p.Phe379Ile)
c.841T>A (p.Phe281Ile)
c.1222T>A (p.Phe408Ile)
2g.48688320_48688321delinsAGCA1248601079GTF2A1L,LHCGR,STON1-GTF2A1Lc.1476_1477delinsCT (p.Leu492=)
c.948-182_948-181delinsCT (n.948-182_948-181delinsCT)
c.3441+16640_3441+16641delinsAG (n.3441+16640_3441+16641delinsAG)
c.*220_*221delinsCT (n.*220_*221delinsCT)
c.1395_1396delinsCT (p.Leu465=)
c.276+16640_276+16641delinsAG (n.276+16640_276+16641delinsAG)
c.*220+5903_*220+5904delinsCT (n.*220+5903_*220+5904delinsCT)
c.519_520delinsCT (p.Leu173=)
c.546_547delinsCT (p.Leu182=)
c.1401_1402delinsCT (p.Leu467=)
c.1215_1216delinsCT (p.Leu405=)
c.1134_1135delinsCT (p.Leu378=)
c.840_841delinsCT (p.Leu280=)
c.1221_1222delinsCT (p.Leu407=)
2g.48688321delCA532706164GTF2A1L,LHCGR,STON1-GTF2A1Lc.1476del (p.Ser494LeufsTer3)
c.948-182del (n.948-182del)
c.3441+16641del (n.3441+16641del)
c.*220del (n.*220del)
c.1395del (p.Ser467LeufsTer3)
c.276+16641del (n.276+16641del)
c.*220+5903del (n.*220+5903del)
c.519del (p.Ser175LeufsTer3)
c.546del (p.Ser184LeufsTer3)
c.1401del (p.Ser469LeufsTer3)
c.1215del (p.Ser407LeufsTer3)
c.1134del (p.Ser380LeufsTer3)
c.840del (p.Ser282LeufsTer3)
c.1221del (p.Ser409LeufsTer3)
 dbSNP gnomAD v2 gnomAD v4
2g.48688321G>ACA426125015GTF2A1L,LHCGR,STON1-GTF2A1Lc.1476C>T (p.Leu492=)
c.948-182C>T (n.948-182C>T)
c.3441+16641G>A (n.3441+16641G>A)
c.*220C>T (n.*220C>T)
c.1395C>T (p.Leu465=)
c.276+16641G>A (n.276+16641G>A)
c.*220+5903C>T (n.*220+5903C>T)
c.519C>T (p.Leu173=)
c.546C>T (p.Leu182=)
c.1401C>T (p.Leu467=)
c.1215C>T (p.Leu405=)
c.1134C>T (p.Leu378=)
c.840C>T (p.Leu280=)
c.1221C>T (p.Leu407=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688321G>CCA426125016GTF2A1L,LHCGR,STON1-GTF2A1Lc.1476C>G (p.Leu492=)
c.948-182C>G (n.948-182C>G)
c.3441+16641G>C (n.3441+16641G>C)
c.*220C>G (n.*220C>G)
c.1395C>G (p.Leu465=)
c.276+16641G>C (n.276+16641G>C)
c.*220+5903C>G (n.*220+5903C>G)
c.519C>G (p.Leu173=)
c.546C>G (p.Leu182=)
c.1401C>G (p.Leu467=)
c.1215C>G (p.Leu405=)
c.1134C>G (p.Leu378=)
c.840C>G (p.Leu280=)
c.1221C>G (p.Leu407=)
2g.48688321G=CA1248601080GTF2A1L,LHCGR,STON1-GTF2A1Lc.1476C= (p.Leu492=)
c.948-182C= (n.948-182C=)
c.3441+16641G= (n.3441+16641G=)
c.*220C= (n.*220C=)
c.1395C= (p.Leu465=)
c.276+16641G= (n.276+16641G=)
c.*220+5903C= (n.*220+5903C=)
c.519C= (p.Leu173=)
c.546C= (p.Leu182=)
c.1401C= (p.Leu467=)
c.1215C= (p.Leu405=)
c.1134C= (p.Leu378=)
c.840C= (p.Leu280=)
c.1221C= (p.Leu407=)
2g.48688321G>TCA426125018GTF2A1L,LHCGR,STON1-GTF2A1Lc.1476C>A (p.Leu492=)
c.948-182C>A (n.948-182C>A)
c.3441+16641G>T (n.3441+16641G>T)
c.*220C>A (n.*220C>A)
c.1395C>A (p.Leu465=)
c.276+16641G>T (n.276+16641G>T)
c.*220+5903C>A (n.*220+5903C>A)
c.519C>A (p.Leu173=)
c.546C>A (p.Leu182=)
c.1401C>A (p.Leu467=)
c.1215C>A (p.Leu405=)
c.1134C>A (p.Leu378=)
c.840C>A (p.Leu280=)
c.1221C>A (p.Leu407=)
2g.48688322A>CCA346746786GTF2A1L,LHCGR,STON1-GTF2A1Lc.1475T>G (p.Leu492Arg)
c.948-183T>G (n.948-183T>G)
c.3441+16642A>C (n.3441+16642A>C)
c.*219T>G (n.*219T>G)
c.1394T>G (p.Leu465Arg)
c.276+16642A>C (n.276+16642A>C)
c.*220+5902T>G (n.*220+5902T>G)
c.518T>G (p.Leu173Arg)
c.545T>G (p.Leu182Arg)
c.1400T>G (p.Leu467Arg)
c.1214T>G (p.Leu405Arg)
c.1133T>G (p.Leu378Arg)
c.839T>G (p.Leu280Arg)
c.1220T>G (p.Leu407Arg)
2g.48688322A>GCA346746789GTF2A1L,LHCGR,STON1-GTF2A1Lc.1475T>C (p.Leu492Pro)
c.948-183T>C (n.948-183T>C)
c.3441+16642A>G (n.3441+16642A>G)
c.*219T>C (n.*219T>C)
c.1394T>C (p.Leu465Pro)
c.276+16642A>G (n.276+16642A>G)
c.*220+5902T>C (n.*220+5902T>C)
c.518T>C (p.Leu173Pro)
c.545T>C (p.Leu182Pro)
c.1400T>C (p.Leu467Pro)
c.1214T>C (p.Leu405Pro)
c.1133T>C (p.Leu378Pro)
c.839T>C (p.Leu280Pro)
c.1220T>C (p.Leu407Pro)
2g.48688322A>TCA346746791GTF2A1L,LHCGR,STON1-GTF2A1Lc.1475T>A (p.Leu492His)
c.948-183T>A (n.948-183T>A)
c.3441+16642A>T (n.3441+16642A>T)
c.*219T>A (n.*219T>A)
c.1394T>A (p.Leu465His)
c.276+16642A>T (n.276+16642A>T)
c.*220+5902T>A (n.*220+5902T>A)
c.518T>A (p.Leu173His)
c.545T>A (p.Leu182His)
c.1400T>A (p.Leu467His)
c.1214T>A (p.Leu405His)
c.1133T>A (p.Leu378His)
c.839T>A (p.Leu280His)
c.1220T>A (p.Leu407His)
2g.48688323G>ACA346746793GTF2A1L,LHCGR,STON1-GTF2A1Lc.1474C>T (p.Leu492Phe)
c.948-184C>T (n.948-184C>T)
c.3441+16643G>A (n.3441+16643G>A)
c.*218C>T (n.*218C>T)
c.1393C>T (p.Leu465Phe)
c.276+16643G>A (n.276+16643G>A)
c.*220+5901C>T (n.*220+5901C>T)
c.517C>T (p.Leu173Phe)
c.544C>T (p.Leu182Phe)
c.1399C>T (p.Leu467Phe)
c.1213C>T (p.Leu405Phe)
c.1132C>T (p.Leu378Phe)
c.838C>T (p.Leu280Phe)
c.1219C>T (p.Leu407Phe)
2g.48688323G>CCA346746795GTF2A1L,LHCGR,STON1-GTF2A1Lc.1474C>G (p.Leu492Val)
c.948-184C>G (n.948-184C>G)
c.3441+16643G>C (n.3441+16643G>C)
c.*218C>G (n.*218C>G)
c.1393C>G (p.Leu465Val)
c.276+16643G>C (n.276+16643G>C)
c.*220+5901C>G (n.*220+5901C>G)
c.517C>G (p.Leu173Val)
c.544C>G (p.Leu182Val)
c.1399C>G (p.Leu467Val)
c.1213C>G (p.Leu405Val)
c.1132C>G (p.Leu378Val)
c.838C>G (p.Leu280Val)
c.1219C>G (p.Leu407Val)
2g.48688323G=CA1248601081GTF2A1L,LHCGR,STON1-GTF2A1Lc.1474C= (p.Leu492=)
c.948-184C= (n.948-184C=)
c.3441+16643G= (n.3441+16643G=)
c.*218C= (n.*218C=)
c.1393C= (p.Leu465=)
c.276+16643G= (n.276+16643G=)
c.*220+5901C= (n.*220+5901C=)
c.517C= (p.Leu173=)
c.544C= (p.Leu182=)
c.1399C= (p.Leu467=)
c.1213C= (p.Leu405=)
c.1132C= (p.Leu378=)
c.838C= (p.Leu280=)
c.1219C= (p.Leu407=)
2g.48688323G>TCA346746797GTF2A1L,LHCGR,STON1-GTF2A1Lc.1474C>A (p.Leu492Ile)
c.948-184C>A (n.948-184C>A)
c.3441+16643G>T (n.3441+16643G>T)
c.*218C>A (n.*218C>A)
c.1393C>A (p.Leu465Ile)
c.276+16643G>T (n.276+16643G>T)
c.*220+5901C>A (n.*220+5901C>A)
c.517C>A (p.Leu173Ile)
c.544C>A (p.Leu182Ile)
c.1399C>A (p.Leu467Ile)
c.1213C>A (p.Leu405Ile)
c.1132C>A (p.Leu378Ile)
c.838C>A (p.Leu280Ile)
c.1219C>A (p.Leu407Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.48688324C>ACA346746801GTF2A1L,LHCGR,STON1-GTF2A1Lc.1473G>T (p.Trp491Cys)
c.948-185G>T (n.948-185G>T)
c.3441+16644C>A (n.3441+16644C>A)
c.*217G>T (n.*217G>T)
c.1392G>T (p.Trp464Cys)
c.276+16644C>A (n.276+16644C>A)
c.*220+5900G>T (n.*220+5900G>T)
c.516G>T (p.Trp172Cys)
c.543G>T (p.Trp181Cys)
c.1398G>T (p.Trp466Cys)
c.1212G>T (p.Trp404Cys)
c.1131G>T (p.Trp377Cys)
c.837G>T (p.Trp279Cys)
c.1218G>T (p.Trp406Cys)
2g.48688324C>GCA346746802GTF2A1L,LHCGR,STON1-GTF2A1Lc.1473G>C (p.Trp491Cys)
c.948-185G>C (n.948-185G>C)
c.3441+16644C>G (n.3441+16644C>G)
c.*217G>C (n.*217G>C)
c.1392G>C (p.Trp464Cys)
c.276+16644C>G (n.276+16644C>G)
c.*220+5900G>C (n.*220+5900G>C)
c.516G>C (p.Trp172Cys)
c.543G>C (p.Trp181Cys)
c.1398G>C (p.Trp466Cys)
c.1212G>C (p.Trp404Cys)
c.1131G>C (p.Trp377Cys)
c.837G>C (p.Trp279Cys)
c.1218G>C (p.Trp406Cys)
2g.48688324C>TCA346746799GTF2A1L,LHCGR,STON1-GTF2A1Lc.1473G>A (p.Trp491Ter)
c.948-185G>A (n.948-185G>A)
c.3441+16644C>T (n.3441+16644C>T)
c.*217G>A (n.*217G>A)
c.1392G>A (p.Trp464Ter)
c.276+16644C>T (n.276+16644C>T)
c.*220+5900G>A (n.*220+5900G>A)
c.516G>A (p.Trp172Ter)
c.543G>A (p.Trp181Ter)
c.1398G>A (p.Trp466Ter)
c.1212G>A (p.Trp404Ter)
c.1131G>A (p.Trp377Ter)
c.837G>A (p.Trp279Ter)
c.1218G>A (p.Trp406Ter)
2g.48688325C>ACA346746805GTF2A1L,LHCGR,STON1-GTF2A1Lc.1472G>T (p.Trp491Leu)
c.948-186G>T (n.948-186G>T)
c.3441+16645C>A (n.3441+16645C>A)
c.*216G>T (n.*216G>T)
c.1391G>T (p.Trp464Leu)
c.276+16645C>A (n.276+16645C>A)
c.*220+5899G>T (n.*220+5899G>T)
c.515G>T (p.Trp172Leu)
c.542G>T (p.Trp181Leu)
c.1397G>T (p.Trp466Leu)
c.1211G>T (p.Trp404Leu)
c.1130G>T (p.Trp377Leu)
c.836G>T (p.Trp279Leu)
c.1217G>T (p.Trp406Leu)
2g.48688325C>GCA346746807GTF2A1L,LHCGR,STON1-GTF2A1Lc.1472G>C (p.Trp491Ser)
c.948-186G>C (n.948-186G>C)
c.3441+16645C>G (n.3441+16645C>G)
c.*216G>C (n.*216G>C)
c.1391G>C (p.Trp464Ser)
c.276+16645C>G (n.276+16645C>G)
c.*220+5899G>C (n.*220+5899G>C)
c.515G>C (p.Trp172Ser)
c.542G>C (p.Trp181Ser)
c.1397G>C (p.Trp466Ser)
c.1211G>C (p.Trp404Ser)
c.1130G>C (p.Trp377Ser)
c.836G>C (p.Trp279Ser)
c.1217G>C (p.Trp406Ser)
2g.48688325C>TCA346746810GTF2A1L,LHCGR,STON1-GTF2A1Lc.1472G>A (p.Trp491Ter)
c.948-186G>A (n.948-186G>A)
c.3441+16645C>T (n.3441+16645C>T)
c.*216G>A (n.*216G>A)
c.1391G>A (p.Trp464Ter)
c.276+16645C>T (n.276+16645C>T)
c.*220+5899G>A (n.*220+5899G>A)
c.515G>A (p.Trp172Ter)
c.542G>A (p.Trp181Ter)
c.1397G>A (p.Trp466Ter)
c.1211G>A (p.Trp404Ter)
c.1130G>A (p.Trp377Ter)
c.836G>A (p.Trp279Ter)
c.1217G>A (p.Trp406Ter)
2g.48688326A=CA1248601082GTF2A1L,LHCGR,STON1-GTF2A1Lc.1471T= (p.Trp491=)
c.948-187T= (n.948-187T=)
c.3441+16646A= (n.3441+16646A=)
c.*215T= (n.*215T=)
c.1390T= (p.Trp464=)
c.276+16646A= (n.276+16646A=)
c.*220+5898T= (n.*220+5898T=)
c.514T= (p.Trp172=)
c.541T= (p.Trp181=)
c.1396T= (p.Trp466=)
c.1210T= (p.Trp404=)
c.1129T= (p.Trp377=)
c.835T= (p.Trp279=)
c.1216T= (p.Trp406=)
2g.48688326A>CCA346746811GTF2A1L,LHCGR,STON1-GTF2A1Lc.1471T>G (p.Trp491Gly)
c.948-187T>G (n.948-187T>G)
c.3441+16646A>C (n.3441+16646A>C)
c.*215T>G (n.*215T>G)
c.1390T>G (p.Trp464Gly)
c.276+16646A>C (n.276+16646A>C)
c.*220+5898T>G (n.*220+5898T>G)
c.514T>G (p.Trp172Gly)
c.541T>G (p.Trp181Gly)
c.1396T>G (p.Trp466Gly)
c.1210T>G (p.Trp404Gly)
c.1129T>G (p.Trp377Gly)
c.835T>G (p.Trp279Gly)
c.1216T>G (p.Trp406Gly)
2g.48688326A>GCA16617732GTF2A1L,LHCGR,STON1-GTF2A1Lc.1471T>C (p.Trp491Arg)
c.948-187T>C (n.948-187T>C)
c.3441+16646A>G (n.3441+16646A>G)
c.*215T>C (n.*215T>C)
c.1390T>C (p.Trp464Arg)
c.276+16646A>G (n.276+16646A>G)
c.*220+5898T>C (n.*220+5898T>C)
c.514T>C (p.Trp172Arg)
c.541T>C (p.Trp181Arg)
c.1396T>C (p.Trp466Arg)
c.1210T>C (p.Trp404Arg)
c.1129T>C (p.Trp377Arg)
c.835T>C (p.Trp279Arg)
c.1216T>C (p.Trp406Arg)
 ClinVar dbSNP gnomAD v4
2g.48688326A>TCA346746813GTF2A1L,LHCGR,STON1-GTF2A1Lc.1471T>A (p.Trp491Arg)
c.948-187T>A (n.948-187T>A)
c.3441+16646A>T (n.3441+16646A>T)
c.*215T>A (n.*215T>A)
c.1390T>A (p.Trp464Arg)
c.276+16646A>T (n.276+16646A>T)
c.*220+5898T>A (n.*220+5898T>A)
c.514T>A (p.Trp172Arg)
c.541T>A (p.Trp181Arg)
c.1396T>A (p.Trp466Arg)
c.1210T>A (p.Trp404Arg)
c.1129T>A (p.Trp377Arg)
c.835T>A (p.Trp279Arg)
c.1216T>A (p.Trp406Arg)
2g.48688327T>ACA426125028GTF2A1L,LHCGR,STON1-GTF2A1Lc.1470A>T (p.Gly490=)
c.948-188A>T (n.948-188A>T)
c.3441+16647T>A (n.3441+16647T>A)
c.*214A>T (n.*214A>T)
c.1389A>T (p.Gly463=)
c.276+16647T>A (n.276+16647T>A)
c.*220+5897A>T (n.*220+5897A>T)
c.513A>T (p.Gly171=)
c.540A>T (p.Gly180=)
c.1395A>T (p.Gly465=)
c.1209A>T (p.Gly403=)
c.1128A>T (p.Gly376=)
c.834A>T (p.Gly278=)
c.1215A>T (p.Gly405=)
 gnomAD v4
2g.48688327T>CCA426125029GTF2A1L,LHCGR,STON1-GTF2A1Lc.1470A>G (p.Gly490=)
c.948-188A>G (n.948-188A>G)
c.3441+16647T>C (n.3441+16647T>C)
c.*214A>G (n.*214A>G)
c.1389A>G (p.Gly463=)
c.276+16647T>C (n.276+16647T>C)
c.*220+5897A>G (n.*220+5897A>G)
c.513A>G (p.Gly171=)
c.540A>G (p.Gly180=)
c.1395A>G (p.Gly465=)
c.1209A>G (p.Gly403=)
c.1128A>G (p.Gly376=)
c.834A>G (p.Gly278=)
c.1215A>G (p.Gly405=)
2g.48688327T>GCA426125031GTF2A1L,LHCGR,STON1-GTF2A1Lc.1470A>C (p.Gly490=)
c.948-188A>C (n.948-188A>C)
c.3441+16647T>G (n.3441+16647T>G)
c.*214A>C (n.*214A>C)
c.1389A>C (p.Gly463=)
c.276+16647T>G (n.276+16647T>G)
c.*220+5897A>C (n.*220+5897A>C)
c.513A>C (p.Gly171=)
c.540A>C (p.Gly180=)
c.1395A>C (p.Gly465=)
c.1209A>C (p.Gly403=)
c.1128A>C (p.Gly376=)
c.834A>C (p.Gly278=)
c.1215A>C (p.Gly405=)
2g.48688328C>ACA346746815GTF2A1L,LHCGR,STON1-GTF2A1Lc.1469G>T (p.Gly490Val)
c.948-189G>T (n.948-189G>T)
c.3441+16648C>A (n.3441+16648C>A)
c.*213G>T (n.*213G>T)
c.1388G>T (p.Gly463Val)
c.276+16648C>A (n.276+16648C>A)
c.*220+5896G>T (n.*220+5896G>T)
c.512G>T (p.Gly171Val)
c.539G>T (p.Gly180Val)
c.1394G>T (p.Gly465Val)
c.1208G>T (p.Gly403Val)
c.1127G>T (p.Gly376Val)
c.833G>T (p.Gly278Val)
c.1214G>T (p.Gly405Val)
2g.48688328C>GCA346746818GTF2A1L,LHCGR,STON1-GTF2A1Lc.1469G>C (p.Gly490Ala)
c.948-189G>C (n.948-189G>C)
c.3441+16648C>G (n.3441+16648C>G)
c.*213G>C (n.*213G>C)
c.1388G>C (p.Gly463Ala)
c.276+16648C>G (n.276+16648C>G)
c.*220+5896G>C (n.*220+5896G>C)
c.512G>C (p.Gly171Ala)
c.539G>C (p.Gly180Ala)
c.1394G>C (p.Gly465Ala)
c.1208G>C (p.Gly403Ala)
c.1127G>C (p.Gly376Ala)
c.833G>C (p.Gly278Ala)
c.1214G>C (p.Gly405Ala)
2g.48688328C>TCA346746820GTF2A1L,LHCGR,STON1-GTF2A1Lc.1469G>A (p.Gly490Glu)
c.948-189G>A (n.948-189G>A)
c.3441+16648C>T (n.3441+16648C>T)
c.*213G>A (n.*213G>A)
c.1388G>A (p.Gly463Glu)
c.276+16648C>T (n.276+16648C>T)
c.*220+5896G>A (n.*220+5896G>A)
c.512G>A (p.Gly171Glu)
c.539G>A (p.Gly180Glu)
c.1394G>A (p.Gly465Glu)
c.1208G>A (p.Gly403Glu)
c.1127G>A (p.Gly376Glu)
c.833G>A (p.Gly278Glu)
c.1214G>A (p.Gly405Glu)
 gnomAD v4
2g.48688329C>ACA346746825GTF2A1L,LHCGR,STON1-GTF2A1Lc.1468G>T (p.Gly490Ter)
c.948-190G>T (n.948-190G>T)
c.3441+16649C>A (n.3441+16649C>A)
c.*212G>T (n.*212G>T)
c.1387G>T (p.Gly463Ter)
c.276+16649C>A (n.276+16649C>A)
c.*220+5895G>T (n.*220+5895G>T)
c.511G>T (p.Gly171Ter)
c.538G>T (p.Gly180Ter)
c.1393G>T (p.Gly465Ter)
c.1207G>T (p.Gly403Ter)
c.1126G>T (p.Gly376Ter)
c.832G>T (p.Gly278Ter)
c.1213G>T (p.Gly405Ter)
2g.48688329C=CA1248601083GTF2A1L,LHCGR,STON1-GTF2A1Lc.1468G= (p.Gly490=)
c.948-190G= (n.948-190G=)
c.3441+16649C= (n.3441+16649C=)
c.*212G= (n.*212G=)
c.1387G= (p.Gly463=)
c.276+16649C= (n.276+16649C=)
c.*220+5895G= (n.*220+5895G=)
c.511G= (p.Gly171=)
c.538G= (p.Gly180=)
c.1393G= (p.Gly465=)
c.1207G= (p.Gly403=)
c.1126G= (p.Gly376=)
c.832G= (p.Gly278=)
c.1213G= (p.Gly405=)
2g.48688329C>GCA346746826GTF2A1L,LHCGR,STON1-GTF2A1Lc.1468G>C (p.Gly490Arg)
c.948-190G>C (n.948-190G>C)
c.3441+16649C>G (n.3441+16649C>G)
c.*212G>C (n.*212G>C)
c.1387G>C (p.Gly463Arg)
c.276+16649C>G (n.276+16649C>G)
c.*220+5895G>C (n.*220+5895G>C)
c.511G>C (p.Gly171Arg)
c.538G>C (p.Gly180Arg)
c.1393G>C (p.Gly465Arg)
c.1207G>C (p.Gly403Arg)
c.1126G>C (p.Gly376Arg)
c.832G>C (p.Gly278Arg)
c.1213G>C (p.Gly405Arg)
2g.48688329C>TCA346746827GTF2A1L,LHCGR,STON1-GTF2A1Lc.1468G>A (p.Gly490Arg)
c.948-190G>A (n.948-190G>A)
c.3441+16649C>T (n.3441+16649C>T)
c.*212G>A (n.*212G>A)
c.1387G>A (p.Gly463Arg)
c.276+16649C>T (n.276+16649C>T)
c.*220+5895G>A (n.*220+5895G>A)
c.511G>A (p.Gly171Arg)
c.538G>A (p.Gly180Arg)
c.1393G>A (p.Gly465Arg)
c.1207G>A (p.Gly403Arg)
c.1126G>A (p.Gly376Arg)
c.832G>A (p.Gly278Arg)
c.1213G>A (p.Gly405Arg)
 gnomAD v4
2g.48688330T>ACA426125037GTF2A1L,LHCGR,STON1-GTF2A1Lc.1467A>T (p.Gly489=)
c.948-191A>T (n.948-191A>T)
c.3441+16650T>A (n.3441+16650T>A)
c.*211A>T (n.*211A>T)
c.1386A>T (p.Gly462=)
c.276+16650T>A (n.276+16650T>A)
c.*220+5894A>T (n.*220+5894A>T)
c.510A>T (p.Gly170=)
c.537A>T (p.Gly179=)
c.1392A>T (p.Gly464=)
c.1206A>T (p.Gly402=)
c.1125A>T (p.Gly375=)
c.831A>T (p.Gly277=)
c.1212A>T (p.Gly404=)
2g.48688330T>CCA426125038GTF2A1L,LHCGR,STON1-GTF2A1Lc.1467A>G (p.Gly489=)
c.948-191A>G (n.948-191A>G)
c.3441+16650T>C (n.3441+16650T>C)
c.*211A>G (n.*211A>G)
c.1386A>G (p.Gly462=)
c.276+16650T>C (n.276+16650T>C)
c.*220+5894A>G (n.*220+5894A>G)
c.510A>G (p.Gly170=)
c.537A>G (p.Gly179=)
c.1392A>G (p.Gly464=)
c.1206A>G (p.Gly402=)
c.1125A>G (p.Gly375=)
c.831A>G (p.Gly277=)
c.1212A>G (p.Gly404=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688330T>GCA426125039GTF2A1L,LHCGR,STON1-GTF2A1Lc.1467A>C (p.Gly489=)
c.948-191A>C (n.948-191A>C)
c.3441+16650T>G (n.3441+16650T>G)
c.*211A>C (n.*211A>C)
c.1386A>C (p.Gly462=)
c.276+16650T>G (n.276+16650T>G)
c.*220+5894A>C (n.*220+5894A>C)
c.510A>C (p.Gly170=)
c.537A>C (p.Gly179=)
c.1392A>C (p.Gly464=)
c.1206A>C (p.Gly402=)
c.1125A>C (p.Gly375=)
c.831A>C (p.Gly277=)
c.1212A>C (p.Gly404=)
2g.48688330T=CA1248601085GTF2A1L,LHCGR,STON1-GTF2A1Lc.1467A= (p.Gly489=)
c.948-191A= (n.948-191A=)
c.3441+16650T= (n.3441+16650T=)
c.*211A= (n.*211A=)
c.1386A= (p.Gly462=)
c.276+16650T= (n.276+16650T=)
c.*220+5894A= (n.*220+5894A=)
c.510A= (p.Gly170=)
c.537A= (p.Gly179=)
c.1392A= (p.Gly464=)
c.1206A= (p.Gly402=)
c.1125A= (p.Gly375=)
c.831A= (p.Gly277=)
c.1212A= (p.Gly404=)
2g.48688330_48688331insGATTCA1248601084GTF2A1L,LHCGR,STON1-GTF2A1Lc.1467_1468insATCA (p.Gly490IlefsTer?)
c.948-191_948-190insATCA (n.948-191_948-190insATCA)
c.3441+16650_3441+16651insGATT (n.3441+16650_3441+16651insGATT)
c.*211_*212insATCA (n.*211_*212insATCA)
c.1386_1387insATCA (p.Gly463IlefsTer?)
c.276+16650_276+16651insGATT (n.276+16650_276+16651insGATT)
c.*220+5894_*220+5895insATCA (n.*220+5894_*220+5895insATCA)
c.510_511insATCA (p.Gly171IlefsTer?)
c.537_538insATCA (p.Gly180IlefsTer?)
c.1392_1393insATCA (p.Gly465IlefsTer?)
c.1206_1207insATCA (p.Gly403IlefsTer?)
c.1125_1126insATCA (p.Gly376IlefsTer?)
c.831_832insATCA (p.Gly278IlefsTer?)
c.1212_1213insATCA (p.Gly405IlefsTer?)
 dbSNP
2g.48688331C>ACA346746834GTF2A1L,LHCGR,STON1-GTF2A1Lc.1466G>T (p.Gly489Val)
c.948-192G>T (n.948-192G>T)
c.3441+16651C>A (n.3441+16651C>A)
c.*210G>T (n.*210G>T)
c.1385G>T (p.Gly462Val)
c.276+16651C>A (n.276+16651C>A)
c.*220+5893G>T (n.*220+5893G>T)
c.509G>T (p.Gly170Val)
c.536G>T (p.Gly179Val)
c.1391G>T (p.Gly464Val)
c.1205G>T (p.Gly402Val)
c.1124G>T (p.Gly375Val)
c.830G>T (p.Gly277Val)
c.1211G>T (p.Gly404Val)
 ClinVar
2g.48688331C=CA1248601086GTF2A1L,LHCGR,STON1-GTF2A1Lc.1466G= (p.Gly489=)
c.948-192G= (n.948-192G=)
c.3441+16651C= (n.3441+16651C=)
c.*210G= (n.*210G=)
c.1385G= (p.Gly462=)
c.276+16651C= (n.276+16651C=)
c.*220+5893G= (n.*220+5893G=)
c.509G= (p.Gly170=)
c.536G= (p.Gly179=)
c.1391G= (p.Gly464=)
c.1205G= (p.Gly402=)
c.1124G= (p.Gly375=)
c.830G= (p.Gly277=)
c.1211G= (p.Gly404=)
2g.48688331C>GCA346746832GTF2A1L,LHCGR,STON1-GTF2A1Lc.1466G>C (p.Gly489Ala)
c.948-192G>C (n.948-192G>C)
c.3441+16651C>G (n.3441+16651C>G)
c.*210G>C (n.*210G>C)
c.1385G>C (p.Gly462Ala)
c.276+16651C>G (n.276+16651C>G)
c.*220+5893G>C (n.*220+5893G>C)
c.509G>C (p.Gly170Ala)
c.536G>C (p.Gly179Ala)
c.1391G>C (p.Gly464Ala)
c.1205G>C (p.Gly402Ala)
c.1124G>C (p.Gly375Ala)
c.830G>C (p.Gly277Ala)
c.1211G>C (p.Gly404Ala)
2g.48688331C>TCA346746829GTF2A1L,LHCGR,STON1-GTF2A1Lc.1466G>A (p.Gly489Glu)
c.948-192G>A (n.948-192G>A)
c.3441+16651C>T (n.3441+16651C>T)
c.*210G>A (n.*210G>A)
c.1385G>A (p.Gly462Glu)
c.276+16651C>T (n.276+16651C>T)
c.*220+5893G>A (n.*220+5893G>A)
c.509G>A (p.Gly170Glu)
c.536G>A (p.Gly179Glu)
c.1391G>A (p.Gly464Glu)
c.1205G>A (p.Gly402Glu)
c.1124G>A (p.Gly375Glu)
c.830G>A (p.Gly277Glu)
c.1211G>A (p.Gly404Glu)
 dbSNP
2g.48688331_48688332insTCA1248601088GTF2A1L,LHCGR,STON1-GTF2A1Lc.1465_1466insA (p.Gly489GlufsTer?)
c.948-193_948-192insA (n.948-193_948-192insA)
c.3441+16651_3441+16652insT (n.3441+16651_3441+16652insT)
c.*209_*210insA (n.*209_*210insA)
c.1384_1385insA (p.Gly462GlufsTer?)
c.276+16651_276+16652insT (n.276+16651_276+16652insT)
c.*220+5892_*220+5893insA (n.*220+5892_*220+5893insA)
c.508_509insA (p.Gly170GlufsTer?)
c.535_536insA (p.Gly179GlufsTer?)
c.1390_1391insA (p.Gly464GlufsTer?)
c.1204_1205insA (p.Gly402GlufsTer?)
c.1123_1124insA (p.Gly375GlufsTer?)
c.829_830insA (p.Gly277GlufsTer?)
c.1210_1211insA (p.Gly404GlufsTer?)
 dbSNP
2g.48688332C>ACA346746837GTF2A1L,LHCGR,STON1-GTF2A1Lc.1465G>T (p.Gly489Ter)
c.948-193G>T (n.948-193G>T)
c.3441+16652C>A (n.3441+16652C>A)
c.*209G>T (n.*209G>T)
c.1384G>T (p.Gly462Ter)
c.276+16652C>A (n.276+16652C>A)
c.*220+5892G>T (n.*220+5892G>T)
c.508G>T (p.Gly170Ter)
c.535G>T (p.Gly179Ter)
c.1390G>T (p.Gly464Ter)
c.1204G>T (p.Gly402Ter)
c.1123G>T (p.Gly375Ter)
c.829G>T (p.Gly277Ter)
c.1210G>T (p.Gly404Ter)
 dbSNP
2g.48688332C=CA1248601087GTF2A1L,LHCGR,STON1-GTF2A1Lc.1465G= (p.Gly489=)
c.948-193G= (n.948-193G=)
c.3441+16652C= (n.3441+16652C=)
c.*209G= (n.*209G=)
c.1384G= (p.Gly462=)
c.276+16652C= (n.276+16652C=)
c.*220+5892G= (n.*220+5892G=)
c.508G= (p.Gly170=)
c.535G= (p.Gly179=)
c.1390G= (p.Gly464=)
c.1204G= (p.Gly402=)
c.1123G= (p.Gly375=)
c.829G= (p.Gly277=)
c.1210G= (p.Gly404=)
2g.48688332C>GCA346746839GTF2A1L,LHCGR,STON1-GTF2A1Lc.1465G>C (p.Gly489Arg)
c.948-193G>C (n.948-193G>C)
c.3441+16652C>G (n.3441+16652C>G)
c.*209G>C (n.*209G>C)
c.1384G>C (p.Gly462Arg)
c.276+16652C>G (n.276+16652C>G)
c.*220+5892G>C (n.*220+5892G>C)
c.508G>C (p.Gly170Arg)
c.535G>C (p.Gly179Arg)
c.1390G>C (p.Gly464Arg)
c.1204G>C (p.Gly402Arg)
c.1123G>C (p.Gly375Arg)
c.829G>C (p.Gly277Arg)
c.1210G>C (p.Gly404Arg)
2g.48688332C>TCA346746842GTF2A1L,LHCGR,STON1-GTF2A1Lc.1465G>A (p.Gly489Arg)
c.948-193G>A (n.948-193G>A)
c.3441+16652C>T (n.3441+16652C>T)
c.*209G>A (n.*209G>A)
c.1384G>A (p.Gly462Arg)
c.276+16652C>T (n.276+16652C>T)
c.*220+5892G>A (n.*220+5892G>A)
c.508G>A (p.Gly170Arg)
c.535G>A (p.Gly179Arg)
c.1390G>A (p.Gly464Arg)
c.1204G>A (p.Gly402Arg)
c.1123G>A (p.Gly375Arg)
c.829G>A (p.Gly277Arg)
c.1210G>A (p.Gly404Arg)
 COSMIC
2g.48688333A>CCA426125046GTF2A1L,LHCGR,STON1-GTF2A1Lc.1464T>G (p.Leu488=)
c.948-194T>G (n.948-194T>G)
c.3441+16653A>C (n.3441+16653A>C)
c.*208T>G (n.*208T>G)
c.1383T>G (p.Leu461=)
c.276+16653A>C (n.276+16653A>C)
c.*220+5891T>G (n.*220+5891T>G)
c.507T>G (p.Leu169=)
c.534T>G (p.Leu178=)
c.1389T>G (p.Leu463=)
c.1203T>G (p.Leu401=)
c.1122T>G (p.Leu374=)
c.828T>G (p.Leu276=)
c.1209T>G (p.Leu403=)
2g.48688333A>GCA426125047GTF2A1L,LHCGR,STON1-GTF2A1Lc.1464T>C (p.Leu488=)
c.948-194T>C (n.948-194T>C)
c.3441+16653A>G (n.3441+16653A>G)
c.*208T>C (n.*208T>C)
c.1383T>C (p.Leu461=)
c.276+16653A>G (n.276+16653A>G)
c.*220+5891T>C (n.*220+5891T>C)
c.507T>C (p.Leu169=)
c.534T>C (p.Leu178=)
c.1389T>C (p.Leu463=)
c.1203T>C (p.Leu401=)
c.1122T>C (p.Leu374=)
c.828T>C (p.Leu276=)
c.1209T>C (p.Leu403=)
2g.48688333A>TCA426125048GTF2A1L,LHCGR,STON1-GTF2A1Lc.1464T>A (p.Leu488=)
c.948-194T>A (n.948-194T>A)
c.3441+16653A>T (n.3441+16653A>T)
c.*208T>A (n.*208T>A)
c.1383T>A (p.Leu461=)
c.276+16653A>T (n.276+16653A>T)
c.*220+5891T>A (n.*220+5891T>A)
c.507T>A (p.Leu169=)
c.534T>A (p.Leu178=)
c.1389T>A (p.Leu463=)
c.1203T>A (p.Leu401=)
c.1122T>A (p.Leu374=)
c.828T>A (p.Leu276=)
c.1209T>A (p.Leu403=)
2g.48688334A=CA1248601089GTF2A1L,LHCGR,STON1-GTF2A1Lc.1463T= (p.Leu488=)
c.948-195T= (n.948-195T=)
c.3441+16654A= (n.3441+16654A=)
c.*207T= (n.*207T=)
c.1382T= (p.Leu461=)
c.276+16654A= (n.276+16654A=)
c.*220+5890T= (n.*220+5890T=)
c.506T= (p.Leu169=)
c.533T= (p.Leu178=)
c.1388T= (p.Leu463=)
c.1202T= (p.Leu401=)
c.1121T= (p.Leu374=)
c.827T= (p.Leu276=)
c.1208T= (p.Leu403=)
2g.48688334A>CCA346746847GTF2A1L,LHCGR,STON1-GTF2A1Lc.1463T>G (p.Leu488Arg)
c.948-195T>G (n.948-195T>G)
c.3441+16654A>C (n.3441+16654A>C)
c.*207T>G (n.*207T>G)
c.1382T>G (p.Leu461Arg)
c.276+16654A>C (n.276+16654A>C)
c.*220+5890T>G (n.*220+5890T>G)
c.506T>G (p.Leu169Arg)
c.533T>G (p.Leu178Arg)
c.1388T>G (p.Leu463Arg)
c.1202T>G (p.Leu401Arg)
c.1121T>G (p.Leu374Arg)
c.827T>G (p.Leu276Arg)
c.1208T>G (p.Leu403Arg)
2g.48688334A>GCA346746848GTF2A1L,LHCGR,STON1-GTF2A1Lc.1463T>C (p.Leu488Pro)
c.948-195T>C (n.948-195T>C)
c.3441+16654A>G (n.3441+16654A>G)
c.*207T>C (n.*207T>C)
c.1382T>C (p.Leu461Pro)
c.276+16654A>G (n.276+16654A>G)
c.*220+5890T>C (n.*220+5890T>C)
c.506T>C (p.Leu169Pro)
c.533T>C (p.Leu178Pro)
c.1388T>C (p.Leu463Pro)
c.1202T>C (p.Leu401Pro)
c.1121T>C (p.Leu374Pro)
c.827T>C (p.Leu276Pro)
c.1208T>C (p.Leu403Pro)
 dbSNP gnomAD v2
2g.48688334A>TCA346746849GTF2A1L,LHCGR,STON1-GTF2A1Lc.1463T>A (p.Leu488His)
c.948-195T>A (n.948-195T>A)
c.3441+16654A>T (n.3441+16654A>T)
c.*207T>A (n.*207T>A)
c.1382T>A (p.Leu461His)
c.276+16654A>T (n.276+16654A>T)
c.*220+5890T>A (n.*220+5890T>A)
c.506T>A (p.Leu169His)
c.533T>A (p.Leu178His)
c.1388T>A (p.Leu463His)
c.1202T>A (p.Leu401His)
c.1121T>A (p.Leu374His)
c.827T>A (p.Leu276His)
c.1208T>A (p.Leu403His)
2g.48688334_48688348delinsAGCATAATCAGAATGCA1248601090GTF2A1L,LHCGR,STON1-GTF2A1Lc.1449_1463delinsCATTCTGATTATGCT (p.Ala483=)
c.948-209_948-195delinsCATTCTGATTATGCT (n.948-209_948-195delinsCATTCTGATTATGCT)
c.3441+16654_3441+16668delinsAGCATAATCAGAATG (n.3441+16654_3441+16668delinsAGCATAATCAGAATG)
c.*193_*207delinsCATTCTGATTATGCT (n.*193_*207delinsCATTCTGATTATGCT)
c.1368_1382delinsCATTCTGATTATGCT (p.Ala456=)
c.276+16654_276+16668delinsAGCATAATCAGAATG (n.276+16654_276+16668delinsAGCATAATCAGAATG)
c.*220+5876_*220+5890delinsCATTCTGATTATGCT (n.*220+5876_*220+5890delinsCATTCTGATTATGCT)
c.492_506delinsCATTCTGATTATGCT (p.Ala164=)
c.519_533delinsCATTCTGATTATGCT (p.Ala173=)
c.1374_1388delinsCATTCTGATTATGCT (p.Ala458=)
c.1188_1202delinsCATTCTGATTATGCT (p.Ala396=)
c.1107_1121delinsCATTCTGATTATGCT (p.Ala369=)
c.813_827delinsCATTCTGATTATGCT (p.Ala271=)
c.1194_1208delinsCATTCTGATTATGCT (p.Ala398=)
2g.48688334_48688335insTCA1248601091GTF2A1L,LHCGR,STON1-GTF2A1Lc.1462_1463insA (p.Leu488HisfsTer?)
c.948-196_948-195insA (n.948-196_948-195insA)
c.3441+16654_3441+16655insT (n.3441+16654_3441+16655insT)
c.*206_*207insA (n.*206_*207insA)
c.1381_1382insA (p.Leu461HisfsTer?)
c.276+16654_276+16655insT (n.276+16654_276+16655insT)
c.*220+5889_*220+5890insA (n.*220+5889_*220+5890insA)
c.505_506insA (p.Leu169HisfsTer?)
c.532_533insA (p.Leu178HisfsTer?)
c.1387_1388insA (p.Leu463HisfsTer?)
c.1201_1202insA (p.Leu401HisfsTer?)
c.1120_1121insA (p.Leu374HisfsTer?)
c.826_827insA (p.Leu276HisfsTer?)
c.1207_1208insA (p.Leu403HisfsTer?)
 dbSNP
2g.48688335G>ACA346746851GTF2A1L,LHCGR,STON1-GTF2A1Lc.1462C>T (p.Leu488Phe)
c.948-196C>T (n.948-196C>T)
c.3441+16655G>A (n.3441+16655G>A)
c.*206C>T (n.*206C>T)
c.1381C>T (p.Leu461Phe)
c.276+16655G>A (n.276+16655G>A)
c.*220+5889C>T (n.*220+5889C>T)
c.505C>T (p.Leu169Phe)
c.532C>T (p.Leu178Phe)
c.1387C>T (p.Leu463Phe)
c.1201C>T (p.Leu401Phe)
c.1120C>T (p.Leu374Phe)
c.826C>T (p.Leu276Phe)
c.1207C>T (p.Leu403Phe)
 gnomAD v4
2g.48688335G>CCA346746854GTF2A1L,LHCGR,STON1-GTF2A1Lc.1462C>G (p.Leu488Val)
c.948-196C>G (n.948-196C>G)
c.3441+16655G>C (n.3441+16655G>C)
c.*206C>G (n.*206C>G)
c.1381C>G (p.Leu461Val)
c.276+16655G>C (n.276+16655G>C)
c.*220+5889C>G (n.*220+5889C>G)
c.505C>G (p.Leu169Val)
c.532C>G (p.Leu178Val)
c.1387C>G (p.Leu463Val)
c.1201C>G (p.Leu401Val)
c.1120C>G (p.Leu374Val)
c.826C>G (p.Leu276Val)
c.1207C>G (p.Leu403Val)
2g.48688335G>TCA346746855GTF2A1L,LHCGR,STON1-GTF2A1Lc.1462C>A (p.Leu488Ile)
c.948-196C>A (n.948-196C>A)
c.3441+16655G>T (n.3441+16655G>T)
c.*206C>A (n.*206C>A)
c.1381C>A (p.Leu461Ile)
c.276+16655G>T (n.276+16655G>T)
c.*220+5889C>A (n.*220+5889C>A)
c.505C>A (p.Leu169Ile)
c.532C>A (p.Leu178Ile)
c.1387C>A (p.Leu463Ile)
c.1201C>A (p.Leu401Ile)
c.1120C>A (p.Leu374Ile)
c.826C>A (p.Leu276Ile)
c.1207C>A (p.Leu403Ile)
2g.48688339_48688352delCA1248601092GTF2A1L,LHCGR,STON1-GTF2A1Lc.1449_1462del (p.Ile484TrpfsTer?)
c.948-209_948-196del (n.948-209_948-196del)
c.3441+16659_3441+16672del (n.3441+16659_3441+16672del)
c.*193_*206del (n.*193_*206del)
c.1368_1381del (p.Ile457TrpfsTer?)
c.276+16659_276+16672del (n.276+16659_276+16672del)
c.*220+5876_*220+5889del (n.*220+5876_*220+5889del)
c.492_505del (p.Ile165TrpfsTer?)
c.519_532del (p.Ile174TrpfsTer?)
c.1374_1387del (p.Ile459TrpfsTer?)
c.1188_1201del (p.Ile397TrpfsTer?)
c.1107_1120del (p.Ile370TrpfsTer?)
c.813_826del (p.Ile272TrpfsTer?)
c.1194_1207del (p.Ile399TrpfsTer?)
 dbSNP
2g.48688336C>ACA346746859GTF2A1L,LHCGR,STON1-GTF2A1Lc.1461G>T (p.Met487Ile)
c.948-197G>T (n.948-197G>T)
c.3441+16656C>A (n.3441+16656C>A)
c.*205G>T (n.*205G>T)
c.1380G>T (p.Met460Ile)
c.276+16656C>A (n.276+16656C>A)
c.*220+5888G>T (n.*220+5888G>T)
c.504G>T (p.Met168Ile)
c.531G>T (p.Met177Ile)
c.1386G>T (p.Met462Ile)
c.1200G>T (p.Met400Ile)
c.1119G>T (p.Met373Ile)
c.825G>T (p.Met275Ile)
c.1206G>T (p.Met402Ile)
2g.48688336C>GCA346746861GTF2A1L,LHCGR,STON1-GTF2A1Lc.1461G>C (p.Met487Ile)
c.948-197G>C (n.948-197G>C)
c.3441+16656C>G (n.3441+16656C>G)
c.*205G>C (n.*205G>C)
c.1380G>C (p.Met460Ile)
c.276+16656C>G (n.276+16656C>G)
c.*220+5888G>C (n.*220+5888G>C)
c.504G>C (p.Met168Ile)
c.531G>C (p.Met177Ile)
c.1386G>C (p.Met462Ile)
c.1200G>C (p.Met400Ile)
c.1119G>C (p.Met373Ile)
c.825G>C (p.Met275Ile)
c.1206G>C (p.Met402Ile)
2g.48688336C>TCA346746864GTF2A1L,LHCGR,STON1-GTF2A1Lc.1461G>A (p.Met487Ile)
c.948-197G>A (n.948-197G>A)
c.3441+16656C>T (n.3441+16656C>T)
c.*205G>A (n.*205G>A)
c.1380G>A (p.Met460Ile)
c.276+16656C>T (n.276+16656C>T)
c.*220+5888G>A (n.*220+5888G>A)
c.504G>A (p.Met168Ile)
c.531G>A (p.Met177Ile)
c.1386G>A (p.Met462Ile)
c.1200G>A (p.Met400Ile)
c.1119G>A (p.Met373Ile)
c.825G>A (p.Met275Ile)
c.1206G>A (p.Met402Ile)
2g.48688337A>CCA346746873GTF2A1L,LHCGR,STON1-GTF2A1Lc.1460T>G (p.Met487Arg)
c.948-198T>G (n.948-198T>G)
c.3441+16657A>C (n.3441+16657A>C)
c.*204T>G (n.*204T>G)
c.1379T>G (p.Met460Arg)
c.276+16657A>C (n.276+16657A>C)
c.*220+5887T>G (n.*220+5887T>G)
c.503T>G (p.Met168Arg)
c.530T>G (p.Met177Arg)
c.1385T>G (p.Met462Arg)
c.1199T>G (p.Met400Arg)
c.1118T>G (p.Met373Arg)
c.824T>G (p.Met275Arg)
c.1205T>G (p.Met402Arg)
2g.48688337A>GCA346746871GTF2A1L,LHCGR,STON1-GTF2A1Lc.1460T>C (p.Met487Thr)
c.948-198T>C (n.948-198T>C)
c.3441+16657A>G (n.3441+16657A>G)
c.*204T>C (n.*204T>C)
c.1379T>C (p.Met460Thr)
c.276+16657A>G (n.276+16657A>G)
c.*220+5887T>C (n.*220+5887T>C)
c.503T>C (p.Met168Thr)
c.530T>C (p.Met177Thr)
c.1385T>C (p.Met462Thr)
c.1199T>C (p.Met400Thr)
c.1118T>C (p.Met373Thr)
c.824T>C (p.Met275Thr)
c.1205T>C (p.Met402Thr)
2g.48688337A>TCA346746867GTF2A1L,LHCGR,STON1-GTF2A1Lc.1460T>A (p.Met487Lys)
c.948-198T>A (n.948-198T>A)
c.3441+16657A>T (n.3441+16657A>T)
c.*204T>A (n.*204T>A)
c.1379T>A (p.Met460Lys)
c.276+16657A>T (n.276+16657A>T)
c.*220+5887T>A (n.*220+5887T>A)
c.503T>A (p.Met168Lys)
c.530T>A (p.Met177Lys)
c.1385T>A (p.Met462Lys)
c.1199T>A (p.Met400Lys)
c.1118T>A (p.Met373Lys)
c.824T>A (p.Met275Lys)
c.1205T>A (p.Met402Lys)
2g.48688338T>ACA346746875GTF2A1L,LHCGR,STON1-GTF2A1Lc.1459A>T (p.Met487Leu)
c.948-199A>T (n.948-199A>T)
c.3441+16658T>A (n.3441+16658T>A)
c.*203A>T (n.*203A>T)
c.1378A>T (p.Met460Leu)
c.276+16658T>A (n.276+16658T>A)
c.*220+5886A>T (n.*220+5886A>T)
c.502A>T (p.Met168Leu)
c.529A>T (p.Met177Leu)
c.1384A>T (p.Met462Leu)
c.1198A>T (p.Met400Leu)
c.1117A>T (p.Met373Leu)
c.823A>T (p.Met275Leu)
c.1204A>T (p.Met402Leu)
2g.48688338T>CCA346746878GTF2A1L,LHCGR,STON1-GTF2A1Lc.1459A>G (p.Met487Val)
c.948-199A>G (n.948-199A>G)
c.3441+16658T>C (n.3441+16658T>C)
c.*203A>G (n.*203A>G)
c.1378A>G (p.Met460Val)
c.276+16658T>C (n.276+16658T>C)
c.*220+5886A>G (n.*220+5886A>G)
c.502A>G (p.Met168Val)
c.529A>G (p.Met177Val)
c.1384A>G (p.Met462Val)
c.1198A>G (p.Met400Val)
c.1117A>G (p.Met373Val)
c.823A>G (p.Met275Val)
c.1204A>G (p.Met402Val)
2g.48688338T>GCA346746876GTF2A1L,LHCGR,STON1-GTF2A1Lc.1459A>C (p.Met487Leu)
c.948-199A>C (n.948-199A>C)
c.3441+16658T>G (n.3441+16658T>G)
c.*203A>C (n.*203A>C)
c.1378A>C (p.Met460Leu)
c.276+16658T>G (n.276+16658T>G)
c.*220+5886A>C (n.*220+5886A>C)
c.502A>C (p.Met168Leu)
c.529A>C (p.Met177Leu)
c.1384A>C (p.Met462Leu)
c.1198A>C (p.Met400Leu)
c.1117A>C (p.Met373Leu)
c.823A>C (p.Met275Leu)
c.1204A>C (p.Met402Leu)
2g.48688339A=CA1248601093GTF2A1L,LHCGR,STON1-GTF2A1Lc.1458T= (p.Ile486=)
c.948-200T= (n.948-200T=)
c.3441+16659A= (n.3441+16659A=)
c.*202T= (n.*202T=)
c.1377T= (p.Ile459=)
c.276+16659A= (n.276+16659A=)
c.*220+5885T= (n.*220+5885T=)
c.501T= (p.Ile167=)
c.528T= (p.Ile176=)
c.1383T= (p.Ile461=)
c.1197T= (p.Ile399=)
c.1116T= (p.Ile372=)
c.822T= (p.Ile274=)
c.1203T= (p.Ile401=)
2g.48688339A>CCA46752962GTF2A1L,LHCGR,STON1-GTF2A1Lc.1458T>G (p.Ile486Met)
c.948-200T>G (n.948-200T>G)
c.3441+16659A>C (n.3441+16659A>C)
c.*202T>G (n.*202T>G)
c.1377T>G (p.Ile459Met)
c.276+16659A>C (n.276+16659A>C)
c.*220+5885T>G (n.*220+5885T>G)
c.501T>G (p.Ile167Met)
c.528T>G (p.Ile176Met)
c.1383T>G (p.Ile461Met)
c.1197T>G (p.Ile399Met)
c.1116T>G (p.Ile372Met)
c.822T>G (p.Ile274Met)
c.1203T>G (p.Ile401Met)
 dbSNP
2g.48688339A>GCA426125050GTF2A1L,LHCGR,STON1-GTF2A1Lc.1458T>C (p.Ile486=)
c.948-200T>C (n.948-200T>C)
c.3441+16659A>G (n.3441+16659A>G)
c.*202T>C (n.*202T>C)
c.1377T>C (p.Ile459=)
c.276+16659A>G (n.276+16659A>G)
c.*220+5885T>C (n.*220+5885T>C)
c.501T>C (p.Ile167=)
c.528T>C (p.Ile176=)
c.1383T>C (p.Ile461=)
c.1197T>C (p.Ile399=)
c.1116T>C (p.Ile372=)
c.822T>C (p.Ile274=)
c.1203T>C (p.Ile401=)
2g.48688339A>TCA426125052GTF2A1L,LHCGR,STON1-GTF2A1Lc.1458T>A (p.Ile486=)
c.948-200T>A (n.948-200T>A)
c.3441+16659A>T (n.3441+16659A>T)
c.*202T>A (n.*202T>A)
c.1377T>A (p.Ile459=)
c.276+16659A>T (n.276+16659A>T)
c.*220+5885T>A (n.*220+5885T>A)
c.501T>A (p.Ile167=)
c.528T>A (p.Ile176=)
c.1383T>A (p.Ile461=)
c.1197T>A (p.Ile399=)
c.1116T>A (p.Ile372=)
c.822T>A (p.Ile274=)
c.1203T>A (p.Ile401=)
2g.48688339_48688340insCCCCA2749836837GTF2A1L,LHCGR,STON1-GTF2A1Lc.1457_1458insGGG (p.Ile486delinsMetGly)
c.948-201_948-200insGGG (n.948-201_948-200insGGG)
c.3441+16659_3441+16660insCCC (n.3441+16659_3441+16660insCCC)
c.*201_*202insGGG (n.*201_*202insGGG)
c.1376_1377insGGG (p.Ile459delinsMetGly)
c.276+16659_276+16660insCCC (n.276+16659_276+16660insCCC)
c.*220+5884_*220+5885insGGG (n.*220+5884_*220+5885insGGG)
c.500_501insGGG (p.Ile167delinsMetGly)
c.527_528insGGG (p.Ile176delinsMetGly)
c.1382_1383insGGG (p.Ile461delinsMetGly)
c.1196_1197insGGG (p.Ile399delinsMetGly)
c.1115_1116insGGG (p.Ile372delinsMetGly)
c.821_822insGGG (p.Ile274delinsMetGly)
c.1202_1203insGGG (p.Ile401delinsMetGly)
2g.48688340A>CCA346746883GTF2A1L,LHCGR,STON1-GTF2A1Lc.1457T>G (p.Ile486Ser)
c.948-201T>G (n.948-201T>G)
c.3441+16660A>C (n.3441+16660A>C)
c.*201T>G (n.*201T>G)
c.1376T>G (p.Ile459Ser)
c.276+16660A>C (n.276+16660A>C)
c.*220+5884T>G (n.*220+5884T>G)
c.500T>G (p.Ile167Ser)
c.527T>G (p.Ile176Ser)
c.1382T>G (p.Ile461Ser)
c.1196T>G (p.Ile399Ser)
c.1115T>G (p.Ile372Ser)
c.821T>G (p.Ile274Ser)
c.1202T>G (p.Ile401Ser)
2g.48688340A>GCA346746881GTF2A1L,LHCGR,STON1-GTF2A1Lc.1457T>C (p.Ile486Thr)
c.948-201T>C (n.948-201T>C)
c.3441+16660A>G (n.3441+16660A>G)
c.*201T>C (n.*201T>C)
c.1376T>C (p.Ile459Thr)
c.276+16660A>G (n.276+16660A>G)
c.*220+5884T>C (n.*220+5884T>C)
c.500T>C (p.Ile167Thr)
c.527T>C (p.Ile176Thr)
c.1382T>C (p.Ile461Thr)
c.1196T>C (p.Ile399Thr)
c.1115T>C (p.Ile372Thr)
c.821T>C (p.Ile274Thr)
c.1202T>C (p.Ile401Thr)
2g.48688340A>TCA346746882GTF2A1L,LHCGR,STON1-GTF2A1Lc.1457T>A (p.Ile486Asn)
c.948-201T>A (n.948-201T>A)
c.3441+16660A>T (n.3441+16660A>T)
c.*201T>A (n.*201T>A)
c.1376T>A (p.Ile459Asn)
c.276+16660A>T (n.276+16660A>T)
c.*220+5884T>A (n.*220+5884T>A)
c.500T>A (p.Ile167Asn)
c.527T>A (p.Ile176Asn)
c.1382T>A (p.Ile461Asn)
c.1196T>A (p.Ile399Asn)
c.1115T>A (p.Ile372Asn)
c.821T>A (p.Ile274Asn)
c.1202T>A (p.Ile401Asn)
2g.48688341T>ACA346746885GTF2A1L,LHCGR,STON1-GTF2A1Lc.1456A>T (p.Ile486Phe)
c.948-202A>T (n.948-202A>T)
c.3441+16661T>A (n.3441+16661T>A)
c.*200A>T (n.*200A>T)
c.1375A>T (p.Ile459Phe)
c.276+16661T>A (n.276+16661T>A)
c.*220+5883A>T (n.*220+5883A>T)
c.499A>T (p.Ile167Phe)
c.526A>T (p.Ile176Phe)
c.1381A>T (p.Ile461Phe)
c.1195A>T (p.Ile399Phe)
c.1114A>T (p.Ile372Phe)
c.820A>T (p.Ile274Phe)
c.1201A>T (p.Ile401Phe)
2g.48688341T>CCA346746886GTF2A1L,LHCGR,STON1-GTF2A1Lc.1456A>G (p.Ile486Val)
c.948-202A>G (n.948-202A>G)
c.3441+16661T>C (n.3441+16661T>C)
c.*200A>G (n.*200A>G)
c.1375A>G (p.Ile459Val)
c.276+16661T>C (n.276+16661T>C)
c.*220+5883A>G (n.*220+5883A>G)
c.499A>G (p.Ile167Val)
c.526A>G (p.Ile176Val)
c.1381A>G (p.Ile461Val)
c.1195A>G (p.Ile399Val)
c.1114A>G (p.Ile372Val)
c.820A>G (p.Ile274Val)
c.1201A>G (p.Ile401Val)
2g.48688341T>GCA346746887GTF2A1L,LHCGR,STON1-GTF2A1Lc.1456A>C (p.Ile486Leu)
c.948-202A>C (n.948-202A>C)
c.3441+16661T>G (n.3441+16661T>G)
c.*200A>C (n.*200A>C)
c.1375A>C (p.Ile459Leu)
c.276+16661T>G (n.276+16661T>G)
c.*220+5883A>C (n.*220+5883A>C)
c.499A>C (p.Ile167Leu)
c.526A>C (p.Ile176Leu)
c.1381A>C (p.Ile461Leu)
c.1195A>C (p.Ile399Leu)
c.1114A>C (p.Ile372Leu)
c.820A>C (p.Ile274Leu)
c.1201A>C (p.Ile401Leu)
2g.48688342C>ACA426125059GTF2A1L,LHCGR,STON1-GTF2A1Lc.1455G>T (p.Leu485=)
c.948-203G>T (n.948-203G>T)
c.3441+16662C>A (n.3441+16662C>A)
c.*199G>T (n.*199G>T)
c.1374G>T (p.Leu458=)
c.276+16662C>A (n.276+16662C>A)
c.*220+5882G>T (n.*220+5882G>T)
c.498G>T (p.Leu166=)
c.525G>T (p.Leu175=)
c.1380G>T (p.Leu460=)
c.1194G>T (p.Leu398=)
c.1113G>T (p.Leu371=)
c.819G>T (p.Leu273=)
c.1200G>T (p.Leu400=)
 COSMIC
2g.48688342C>GCA426125060GTF2A1L,LHCGR,STON1-GTF2A1Lc.1455G>C (p.Leu485=)
c.948-203G>C (n.948-203G>C)
c.3441+16662C>G (n.3441+16662C>G)
c.*199G>C (n.*199G>C)
c.1374G>C (p.Leu458=)
c.276+16662C>G (n.276+16662C>G)
c.*220+5882G>C (n.*220+5882G>C)
c.498G>C (p.Leu166=)
c.525G>C (p.Leu175=)
c.1380G>C (p.Leu460=)
c.1194G>C (p.Leu398=)
c.1113G>C (p.Leu371=)
c.819G>C (p.Leu273=)
c.1200G>C (p.Leu400=)
2g.48688342C>TCA426125061GTF2A1L,LHCGR,STON1-GTF2A1Lc.1455G>A (p.Leu485=)
c.948-203G>A (n.948-203G>A)
c.3441+16662C>T (n.3441+16662C>T)
c.*199G>A (n.*199G>A)
c.1374G>A (p.Leu458=)
c.276+16662C>T (n.276+16662C>T)
c.*220+5882G>A (n.*220+5882G>A)
c.498G>A (p.Leu166=)
c.525G>A (p.Leu175=)
c.1380G>A (p.Leu460=)
c.1194G>A (p.Leu398=)
c.1113G>A (p.Leu371=)
c.819G>A (p.Leu273=)
c.1200G>A (p.Leu400=)
2g.48688343A=CA1248601094GTF2A1L,LHCGR,STON1-GTF2A1Lc.1454T= (p.Leu485=)
c.948-204T= (n.948-204T=)
c.3441+16663A= (n.3441+16663A=)
c.*198T= (n.*198T=)
c.1373T= (p.Leu458=)
c.276+16663A= (n.276+16663A=)
c.*220+5881T= (n.*220+5881T=)
c.497T= (p.Leu166=)
c.524T= (p.Leu175=)
c.1379T= (p.Leu460=)
c.1193T= (p.Leu398=)
c.1112T= (p.Leu371=)
c.818T= (p.Leu273=)
c.1199T= (p.Leu400=)
2g.48688343A>CCA346746890GTF2A1L,LHCGR,STON1-GTF2A1Lc.1454T>G (p.Leu485Arg)
c.948-204T>G (n.948-204T>G)
c.3441+16663A>C (n.3441+16663A>C)
c.*198T>G (n.*198T>G)
c.1373T>G (p.Leu458Arg)
c.276+16663A>C (n.276+16663A>C)
c.*220+5881T>G (n.*220+5881T>G)
c.497T>G (p.Leu166Arg)
c.524T>G (p.Leu175Arg)
c.1379T>G (p.Leu460Arg)
c.1193T>G (p.Leu398Arg)
c.1112T>G (p.Leu371Arg)
c.818T>G (p.Leu273Arg)
c.1199T>G (p.Leu400Arg)
2g.48688343A>GCA346746891GTF2A1L,LHCGR,STON1-GTF2A1Lc.1454T>C (p.Leu485Pro)
c.948-204T>C (n.948-204T>C)
c.3441+16663A>G (n.3441+16663A>G)
c.*198T>C (n.*198T>C)
c.1373T>C (p.Leu458Pro)
c.276+16663A>G (n.276+16663A>G)
c.*220+5881T>C (n.*220+5881T>C)
c.497T>C (p.Leu166Pro)
c.524T>C (p.Leu175Pro)
c.1379T>C (p.Leu460Pro)
c.1193T>C (p.Leu398Pro)
c.1112T>C (p.Leu371Pro)
c.818T>C (p.Leu273Pro)
c.1199T>C (p.Leu400Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.48688343A>TCA346746892GTF2A1L,LHCGR,STON1-GTF2A1Lc.1454T>A (p.Leu485Gln)
c.948-204T>A (n.948-204T>A)
c.3441+16663A>T (n.3441+16663A>T)
c.*198T>A (n.*198T>A)
c.1373T>A (p.Leu458Gln)
c.276+16663A>T (n.276+16663A>T)
c.*220+5881T>A (n.*220+5881T>A)
c.497T>A (p.Leu166Gln)
c.524T>A (p.Leu175Gln)
c.1379T>A (p.Leu460Gln)
c.1193T>A (p.Leu398Gln)
c.1112T>A (p.Leu371Gln)
c.818T>A (p.Leu273Gln)
c.1199T>A (p.Leu400Gln)
2g.48688344G>ACA426125062GTF2A1L,LHCGR,STON1-GTF2A1Lc.1453C>T (p.Leu485=)
c.948-205C>T (n.948-205C>T)
c.3441+16664G>A (n.3441+16664G>A)
c.*197C>T (n.*197C>T)
c.1372C>T (p.Leu458=)
c.276+16664G>A (n.276+16664G>A)
c.*220+5880C>T (n.*220+5880C>T)
c.496C>T (p.Leu166=)
c.523C>T (p.Leu175=)
c.1378C>T (p.Leu460=)
c.1192C>T (p.Leu398=)
c.1111C>T (p.Leu371=)
c.817C>T (p.Leu273=)
c.1198C>T (p.Leu400=)
2g.48688344G>CCA346746894GTF2A1L,LHCGR,STON1-GTF2A1Lc.1453C>G (p.Leu485Val)
c.948-205C>G (n.948-205C>G)
c.3441+16664G>C (n.3441+16664G>C)
c.*197C>G (n.*197C>G)
c.1372C>G (p.Leu458Val)
c.276+16664G>C (n.276+16664G>C)
c.*220+5880C>G (n.*220+5880C>G)
c.496C>G (p.Leu166Val)
c.523C>G (p.Leu175Val)
c.1378C>G (p.Leu460Val)
c.1192C>G (p.Leu398Val)
c.1111C>G (p.Leu371Val)
c.817C>G (p.Leu273Val)
c.1198C>G (p.Leu400Val)
2g.48688344G=CA1248601095GTF2A1L,LHCGR,STON1-GTF2A1Lc.1453C= (p.Leu485=)
c.948-205C= (n.948-205C=)
c.3441+16664G= (n.3441+16664G=)
c.*197C= (n.*197C=)
c.1372C= (p.Leu458=)
c.276+16664G= (n.276+16664G=)
c.*220+5880C= (n.*220+5880C=)
c.496C= (p.Leu166=)
c.523C= (p.Leu175=)
c.1378C= (p.Leu460=)
c.1192C= (p.Leu398=)
c.1111C= (p.Leu371=)
c.817C= (p.Leu273=)
c.1198C= (p.Leu400=)
2g.48688344G>TCA1653024GTF2A1L,LHCGR,STON1-GTF2A1Lc.1453C>A (p.Leu485Met)
c.948-205C>A (n.948-205C>A)
c.3441+16664G>T (n.3441+16664G>T)
c.*197C>A (n.*197C>A)
c.1372C>A (p.Leu458Met)
c.276+16664G>T (n.276+16664G>T)
c.*220+5880C>A (n.*220+5880C>A)
c.496C>A (p.Leu166Met)
c.523C>A (p.Leu175Met)
c.1378C>A (p.Leu460Met)
c.1192C>A (p.Leu398Met)
c.1111C>A (p.Leu371Met)
c.817C>A (p.Leu273Met)
c.1198C>A (p.Leu400Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688345A>CCA346746897GTF2A1L,LHCGR,STON1-GTF2A1Lc.1452T>G (p.Ile484Met)
c.948-206T>G (n.948-206T>G)
c.3441+16665A>C (n.3441+16665A>C)
c.*196T>G (n.*196T>G)
c.1371T>G (p.Ile457Met)
c.276+16665A>C (n.276+16665A>C)
c.*220+5879T>G (n.*220+5879T>G)
c.495T>G (p.Ile165Met)
c.522T>G (p.Ile174Met)
c.1377T>G (p.Ile459Met)
c.1191T>G (p.Ile397Met)
c.1110T>G (p.Ile370Met)
c.816T>G (p.Ile272Met)
c.1197T>G (p.Ile399Met)
2g.48688345A>GCA426125065GTF2A1L,LHCGR,STON1-GTF2A1Lc.1452T>C (p.Ile484=)
c.948-206T>C (n.948-206T>C)
c.3441+16665A>G (n.3441+16665A>G)
c.*196T>C (n.*196T>C)
c.1371T>C (p.Ile457=)
c.276+16665A>G (n.276+16665A>G)
c.*220+5879T>C (n.*220+5879T>C)
c.495T>C (p.Ile165=)
c.522T>C (p.Ile174=)
c.1377T>C (p.Ile459=)
c.1191T>C (p.Ile397=)
c.1110T>C (p.Ile370=)
c.816T>C (p.Ile272=)
c.1197T>C (p.Ile399=)
 gnomAD v4
2g.48688345A>TCA426125064GTF2A1L,LHCGR,STON1-GTF2A1Lc.1452T>A (p.Ile484=)
c.948-206T>A (n.948-206T>A)
c.3441+16665A>T (n.3441+16665A>T)
c.*196T>A (n.*196T>A)
c.1371T>A (p.Ile457=)
c.276+16665A>T (n.276+16665A>T)
c.*220+5879T>A (n.*220+5879T>A)
c.495T>A (p.Ile165=)
c.522T>A (p.Ile174=)
c.1377T>A (p.Ile459=)
c.1191T>A (p.Ile397=)
c.1110T>A (p.Ile370=)
c.816T>A (p.Ile272=)
c.1197T>A (p.Ile399=)
2g.48688346A>CCA346746902GTF2A1L,LHCGR,STON1-GTF2A1Lc.1451T>G (p.Ile484Ser)
c.948-207T>G (n.948-207T>G)
c.3441+16666A>C (n.3441+16666A>C)
c.*195T>G (n.*195T>G)
c.1370T>G (p.Ile457Ser)
c.276+16666A>C (n.276+16666A>C)
c.*220+5878T>G (n.*220+5878T>G)
c.494T>G (p.Ile165Ser)
c.521T>G (p.Ile174Ser)
c.1376T>G (p.Ile459Ser)
c.1190T>G (p.Ile397Ser)
c.1109T>G (p.Ile370Ser)
c.815T>G (p.Ile272Ser)
c.1196T>G (p.Ile399Ser)
2g.48688346A>GCA346746899GTF2A1L,LHCGR,STON1-GTF2A1Lc.1451T>C (p.Ile484Thr)
c.948-207T>C (n.948-207T>C)
c.3441+16666A>G (n.3441+16666A>G)
c.*195T>C (n.*195T>C)
c.1370T>C (p.Ile457Thr)
c.276+16666A>G (n.276+16666A>G)
c.*220+5878T>C (n.*220+5878T>C)
c.494T>C (p.Ile165Thr)
c.521T>C (p.Ile174Thr)
c.1376T>C (p.Ile459Thr)
c.1190T>C (p.Ile397Thr)
c.1109T>C (p.Ile370Thr)
c.815T>C (p.Ile272Thr)
c.1196T>C (p.Ile399Thr)
 gnomAD v4
2g.48688346A>TCA346746900GTF2A1L,LHCGR,STON1-GTF2A1Lc.1451T>A (p.Ile484Asn)
c.948-207T>A (n.948-207T>A)
c.3441+16666A>T (n.3441+16666A>T)
c.*195T>A (n.*195T>A)
c.1370T>A (p.Ile457Asn)
c.276+16666A>T (n.276+16666A>T)
c.*220+5878T>A (n.*220+5878T>A)
c.494T>A (p.Ile165Asn)
c.521T>A (p.Ile174Asn)
c.1376T>A (p.Ile459Asn)
c.1190T>A (p.Ile397Asn)
c.1109T>A (p.Ile370Asn)
c.815T>A (p.Ile272Asn)
c.1196T>A (p.Ile399Asn)
2g.48688347T>ACA346746904GTF2A1L,LHCGR,STON1-GTF2A1Lc.1450A>T (p.Ile484Phe)
c.948-208A>T (n.948-208A>T)
c.3441+16667T>A (n.3441+16667T>A)
c.*194A>T (n.*194A>T)
c.1369A>T (p.Ile457Phe)
c.276+16667T>A (n.276+16667T>A)
c.*220+5877A>T (n.*220+5877A>T)
c.493A>T (p.Ile165Phe)
c.520A>T (p.Ile174Phe)
c.1375A>T (p.Ile459Phe)
c.1189A>T (p.Ile397Phe)
c.1108A>T (p.Ile370Phe)
c.814A>T (p.Ile272Phe)
c.1195A>T (p.Ile399Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688347T>CCA346746905GTF2A1L,LHCGR,STON1-GTF2A1Lc.1450A>G (p.Ile484Val)
c.948-208A>G (n.948-208A>G)
c.3441+16667T>C (n.3441+16667T>C)
c.*194A>G (n.*194A>G)
c.1369A>G (p.Ile457Val)
c.276+16667T>C (n.276+16667T>C)
c.*220+5877A>G (n.*220+5877A>G)
c.493A>G (p.Ile165Val)
c.520A>G (p.Ile174Val)
c.1375A>G (p.Ile459Val)
c.1189A>G (p.Ile397Val)
c.1108A>G (p.Ile370Val)
c.814A>G (p.Ile272Val)
c.1195A>G (p.Ile399Val)
2g.48688347T>GCA1653025GTF2A1L,LHCGR,STON1-GTF2A1Lc.1450A>C (p.Ile484Leu)
c.948-208A>C (n.948-208A>C)
c.3441+16667T>G (n.3441+16667T>G)
c.*194A>C (n.*194A>C)
c.1369A>C (p.Ile457Leu)
c.276+16667T>G (n.276+16667T>G)
c.*220+5877A>C (n.*220+5877A>C)
c.493A>C (p.Ile165Leu)
c.520A>C (p.Ile174Leu)
c.1375A>C (p.Ile459Leu)
c.1189A>C (p.Ile397Leu)
c.1108A>C (p.Ile370Leu)
c.814A>C (p.Ile272Leu)
c.1195A>C (p.Ile399Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688347T=CA1248601096GTF2A1L,LHCGR,STON1-GTF2A1Lc.1450A= (p.Ile484=)
c.948-208A= (n.948-208A=)
c.3441+16667T= (n.3441+16667T=)
c.*194A= (n.*194A=)
c.1369A= (p.Ile457=)
c.276+16667T= (n.276+16667T=)
c.*220+5877A= (n.*220+5877A=)
c.493A= (p.Ile165=)
c.520A= (p.Ile174=)
c.1375A= (p.Ile459=)
c.1189A= (p.Ile397=)
c.1108A= (p.Ile370=)
c.814A= (p.Ile272=)
c.1195A= (p.Ile399=)

Number of alleles fetched