Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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=)
2g.48688348G>ACA426125069GTF2A1L,LHCGR,STON1-GTF2A1Lc.1449C>T (p.Ala483=)
c.948-209C>T (n.948-209C>T)
c.3441+16668G>A (n.3441+16668G>A)
c.*193C>T (n.*193C>T)
c.1368C>T (p.Ala456=)
c.276+16668G>A (n.276+16668G>A)
c.*220+5876C>T (n.*220+5876C>T)
c.492C>T (p.Ala164=)
c.519C>T (p.Ala173=)
c.1374C>T (p.Ala458=)
c.1188C>T (p.Ala396=)
c.1107C>T (p.Ala369=)
c.813C>T (p.Ala271=)
c.1194C>T (p.Ala398=)
2g.48688348G>CCA426125070GTF2A1L,LHCGR,STON1-GTF2A1Lc.1449C>G (p.Ala483=)
c.948-209C>G (n.948-209C>G)
c.3441+16668G>C (n.3441+16668G>C)
c.*193C>G (n.*193C>G)
c.1368C>G (p.Ala456=)
c.276+16668G>C (n.276+16668G>C)
c.*220+5876C>G (n.*220+5876C>G)
c.492C>G (p.Ala164=)
c.519C>G (p.Ala173=)
c.1374C>G (p.Ala458=)
c.1188C>G (p.Ala396=)
c.1107C>G (p.Ala369=)
c.813C>G (p.Ala271=)
c.1194C>G (p.Ala398=)
2g.48688348G>TCA426125071GTF2A1L,LHCGR,STON1-GTF2A1Lc.1449C>A (p.Ala483=)
c.948-209C>A (n.948-209C>A)
c.3441+16668G>T (n.3441+16668G>T)
c.*193C>A (n.*193C>A)
c.1368C>A (p.Ala456=)
c.276+16668G>T (n.276+16668G>T)
c.*220+5876C>A (n.*220+5876C>A)
c.492C>A (p.Ala164=)
c.519C>A (p.Ala173=)
c.1374C>A (p.Ala458=)
c.1188C>A (p.Ala396=)
c.1107C>A (p.Ala369=)
c.813C>A (p.Ala271=)
c.1194C>A (p.Ala398=)
2g.48688349G>ACA1653026GTF2A1L,LHCGR,STON1-GTF2A1Lc.1448C>T (p.Ala483Val)
c.948-210C>T (n.948-210C>T)
c.3441+16669G>A (n.3441+16669G>A)
c.*192C>T (n.*192C>T)
c.1367C>T (p.Ala456Val)
c.276+16669G>A (n.276+16669G>A)
c.*220+5875C>T (n.*220+5875C>T)
c.491C>T (p.Ala164Val)
c.518C>T (p.Ala173Val)
c.1373C>T (p.Ala458Val)
c.1187C>T (p.Ala396Val)
c.1106C>T (p.Ala369Val)
c.812C>T (p.Ala271Val)
c.1193C>T (p.Ala398Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688349G>CCA346746907GTF2A1L,LHCGR,STON1-GTF2A1Lc.1448C>G (p.Ala483Gly)
c.948-210C>G (n.948-210C>G)
c.3441+16669G>C (n.3441+16669G>C)
c.*192C>G (n.*192C>G)
c.1367C>G (p.Ala456Gly)
c.276+16669G>C (n.276+16669G>C)
c.*220+5875C>G (n.*220+5875C>G)
c.491C>G (p.Ala164Gly)
c.518C>G (p.Ala173Gly)
c.1373C>G (p.Ala458Gly)
c.1187C>G (p.Ala396Gly)
c.1106C>G (p.Ala369Gly)
c.812C>G (p.Ala271Gly)
c.1193C>G (p.Ala398Gly)
 dbSNP
2g.48688349G=CA1248601097GTF2A1L,LHCGR,STON1-GTF2A1Lc.1448C= (p.Ala483=)
c.948-210C= (n.948-210C=)
c.3441+16669G= (n.3441+16669G=)
c.*192C= (n.*192C=)
c.1367C= (p.Ala456=)
c.276+16669G= (n.276+16669G=)
c.*220+5875C= (n.*220+5875C=)
c.491C= (p.Ala164=)
c.518C= (p.Ala173=)
c.1373C= (p.Ala458=)
c.1187C= (p.Ala396=)
c.1106C= (p.Ala369=)
c.812C= (p.Ala271=)
c.1193C= (p.Ala398=)
2g.48688349G>TCA346746909GTF2A1L,LHCGR,STON1-GTF2A1Lc.1448C>A (p.Ala483Asp)
c.948-210C>A (n.948-210C>A)
c.3441+16669G>T (n.3441+16669G>T)
c.*192C>A (n.*192C>A)
c.1367C>A (p.Ala456Asp)
c.276+16669G>T (n.276+16669G>T)
c.*220+5875C>A (n.*220+5875C>A)
c.491C>A (p.Ala164Asp)
c.518C>A (p.Ala173Asp)
c.1373C>A (p.Ala458Asp)
c.1187C>A (p.Ala396Asp)
c.1106C>A (p.Ala369Asp)
c.812C>A (p.Ala271Asp)
c.1193C>A (p.Ala398Asp)
 dbSNP gnomAD v2
2g.48688350C>ACA346746910GTF2A1L,LHCGR,STON1-GTF2A1Lc.1447G>T (p.Ala483Ser)
c.948-211G>T (n.948-211G>T)
c.3441+16670C>A (n.3441+16670C>A)
c.*191G>T (n.*191G>T)
c.1366G>T (p.Ala456Ser)
c.276+16670C>A (n.276+16670C>A)
c.*220+5874G>T (n.*220+5874G>T)
c.490G>T (p.Ala164Ser)
c.517G>T (p.Ala173Ser)
c.1372G>T (p.Ala458Ser)
c.1186G>T (p.Ala396Ser)
c.1105G>T (p.Ala369Ser)
c.811G>T (p.Ala271Ser)
c.1192G>T (p.Ala398Ser)
2g.48688350C>GCA346746911GTF2A1L,LHCGR,STON1-GTF2A1Lc.1447G>C (p.Ala483Pro)
c.948-211G>C (n.948-211G>C)
c.3441+16670C>G (n.3441+16670C>G)
c.*191G>C (n.*191G>C)
c.1366G>C (p.Ala456Pro)
c.276+16670C>G (n.276+16670C>G)
c.*220+5874G>C (n.*220+5874G>C)
c.490G>C (p.Ala164Pro)
c.517G>C (p.Ala173Pro)
c.1372G>C (p.Ala458Pro)
c.1186G>C (p.Ala396Pro)
c.1105G>C (p.Ala369Pro)
c.811G>C (p.Ala271Pro)
c.1192G>C (p.Ala398Pro)
2g.48688350C>TCA346746913GTF2A1L,LHCGR,STON1-GTF2A1Lc.1447G>A (p.Ala483Thr)
c.948-211G>A (n.948-211G>A)
c.3441+16670C>T (n.3441+16670C>T)
c.*191G>A (n.*191G>A)
c.1366G>A (p.Ala456Thr)
c.276+16670C>T (n.276+16670C>T)
c.*220+5874G>A (n.*220+5874G>A)
c.490G>A (p.Ala164Thr)
c.517G>A (p.Ala173Thr)
c.1372G>A (p.Ala458Thr)
c.1186G>A (p.Ala396Thr)
c.1105G>A (p.Ala369Thr)
c.811G>A (p.Ala271Thr)
c.1192G>A (p.Ala398Thr)
 gnomAD v4

Number of alleles fetched