Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.48688262C>A | CA346746441 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688262C>G | CA346746437 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688262C>T | CA346746439 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688263T>A | CA346746445 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688263T>C | CA346746446 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688263T>G | CA346746450 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688264G>A | CA426124932 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688264G>C | CA426124933 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688264G>T | CA426124934 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688265A= | CA1248601053 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688265A>C | CA346746457 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688265A>G | CA346746459 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688265A>T | CA346746460 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688266C>A | CA346746463 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688266C>G | CA346746472 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688266C>T | CA346746474 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688267C>A | CA346746477 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688267C= | CA1248601054 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688267C>G | CA346746478 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688267C>T | CA426124939 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688268T>A | CA46752912 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688268T>C | CA346746480 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688268T>G | CA346746479 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688268T= | CA1248601055 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688269T>A | CA346746484 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688269T>C | CA346746491 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688269T>G | CA346746488 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688270C>A | CA346746495 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688270C>G | CA346746498 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688270C>T | CA346746506 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688271A= | CA1248601056 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688271A>C | CA346746508 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688271A>G | CA1653020 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688271A>T | CA346746512 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688272T>A | CA346746516 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688272T>C | CA46752923 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688272T>G | CA346746524 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688272T= | CA1248601057 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688273G>A | CA426124948 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688273G>C | CA346746527 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688273G>T | CA346746531 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688274T>A | CA346746540 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688274T>C | CA346746537 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688274T>G | CA346746534 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688275A>C | CA346746541 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688275A>G | CA346746542 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688275A>T | CA346746543 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688276A>C | CA346746544 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688276A>G | CA426124951 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688276A>T | CA346746546 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688277T>A | CA346746549 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688277T>C | CA346746551 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688277T>G | CA346746552 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688277T= | CA1248601058 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688278T>A | CA346746554 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688278T>C | CA346746556 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688278T>G | CA346746559 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688279G>A | CA426124952 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688279G>C | CA346746562 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688279G>T | CA346746565 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688280C>A | CA346746569 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688280C>G | CA346746571 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688280C>T | CA346746567 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688281T>A | CA346746574 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688281T>C | CA346746578 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688281T>G | CA346746576 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688282G>A | CA426124955 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688282G>C | CA426124956 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688282G>T | CA426124957 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688283A= | CA1248601059 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688283A>C | CA346746580 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688283A>G | CA346746584 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688283A>T | CA346746581 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688284C>A | CA346746589 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688284C>G | CA346746596 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688284C>T | CA346746592 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688285A= | CA1248601060 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688285A>C | CA46752925 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688285A>G | CA426124963 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688285A>T | CA426124964 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688286C>A | CA346746609 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688286C= | CA1248601061 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688286C>G | CA346746605 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688286C>T | CA346746607 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688287C>A | CA346746614 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688287C= | CA1248601062 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688287C>G | CA346746616 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688287C>T | CA1653021 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688288G>A | CA1653022 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688288G>C | CA426124966 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688288G= | CA1248601063 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688288G>T | CA426124967 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688289A>C | CA346746629 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688289A>G | CA346746631 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688289A>T | CA346746632 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688290del | CA2658992084 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688290C>A | CA346746635 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688290C= | CA1248601064 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688290C>G | CA346746636 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688290C>T | CA346746637 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688291A>C | CA426124970 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688291A>G | CA426124972 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688291A>T | CA426124971 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688292A= | CA1248601065 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688292A>C | CA346746638 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688292A>G | CA250650 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688292A>T | CA346746639 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688293G>A | CA346746642 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688293G>C | CA346746645 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688293G= | CA1248601066 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688293G>T | CA346746650 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688294G>A | CA426124978 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688294G>C | CA426124979 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688294G>T | CA426124980 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688295G>A | CA346746652 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688295G>C | CA346746653 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688295G= | CA1248601067 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688295G>T | CA346746656 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688296G>A | CA346746658 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688296G>C | CA346746661 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688296G>T | CA346746664 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688297C>A | CA46752947 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688297C= | CA1248601068 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688297C>G | CA346746667 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688297C>T | CA426124982 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688298A>C | CA346746672 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688298A>G | CA346746675 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688298A>T | CA346746677 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688299A= | CA1248601069 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688299A>C | CA346746679 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688299A>G | CA426124985 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688299A>T | CA346746680 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688300C>A | CA346746682 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688300C>G | CA346746684 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688300C>T | CA346746687 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688301A>C | CA346746689 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688301A>G | CA346746691 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688301A>T | CA346746693 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688302T>A | CA346746700 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688302T>C | CA346746698 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688302T>G | CA346746696 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688302T= | CA1248601070 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688302_48688303insC | CA1248601071 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688303A>C | CA426124988 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688303A>G | CA426124986 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688303A>T | CA426124987 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688304G>A | CA346746703 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688304G>C | CA346746709 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688304G= | CA1248601072 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688304G>T | CA346746711 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688305C>A | CA346746714 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688305C>G | CA346746717 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688305C>T | CA346746720 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688306A>C | CA346746721 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688306A>G | CA426124989 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688306A>T | CA426124990 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688307A>C | CA346746722 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688307A>G | CA346746723 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688307A>T | CA346746724 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688308T>A | CA346746726 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688308T>C | CA346746728 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688308T>G | CA346746730 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688309T>A | CA426124994 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688309T>C | CA426124995 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688309T>G | CA426124996 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688310A>C | CA346746734 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688310A>G | CA346746736 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688310A>T | CA346746733 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688311G>A | CA1653023 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688311G>C | CA46752951 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688311G= | CA1248601073 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688311G>T | CA346746741 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688312A= | CA1248601074 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688312A>C | CA426124998 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688312A>G | CA426125000 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688312A>T | CA426125002 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688312_48688313insT | CA1248601075 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688313G>A | CA346746745 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688313G>C | CA346746747 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688313G>T | CA346746749 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688314A>C | CA346746752 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688314A>G | CA346746753 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688314A>T | CA346746754 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688315A= | CA1248601076 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688315A>C | CA426125003 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688315A>G | CA426125004 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688315A>T | CA426125005 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688316G>A | CA346746757 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688316G>C | CA346746758 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688316G>T | CA346746760 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688316_48688317delinsGA | CA1248601077 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688317A= | CA1248601078 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688317A>C | CA346746768 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688317A>G | CA346746765 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688317A>T | CA346746762 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688320del | CA532706163 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688318A>C | CA346746771 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688318A>G | CA426125010 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688318A>T | CA346746773 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688319A>C | CA346746775 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688319A>G | CA346746777 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688319A>T | CA346746779 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688320A>C | CA346746781 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688320A>G | CA346746782 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688320A>T | CA346746783 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688320_48688321delinsAG | CA1248601079 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688321del | CA532706164 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688321G>A | CA426125015 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688321G>C | CA426125016 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688321G= | CA1248601080 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688321G>T | CA426125018 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688322A>C | CA346746786 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688322A>G | CA346746789 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688322A>T | CA346746791 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688323G>A | CA346746793 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688323G>C | CA346746795 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688323G= | CA1248601081 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688323G>T | CA346746797 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688324C>A | CA346746801 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688324C>G | CA346746802 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688324C>T | CA346746799 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688325C>A | CA346746805 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688325C>G | CA346746807 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688325C>T | CA346746810 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688326A= | CA1248601082 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688326A>C | CA346746811 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688326A>G | CA16617732 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688326A>T | CA346746813 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688327T>A | CA426125028 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688327T>C | CA426125029 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688327T>G | CA426125031 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688328C>A | CA346746815 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688328C>G | CA346746818 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688328C>T | CA346746820 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688329C>A | CA346746825 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688329C= | CA1248601083 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688329C>G | CA346746826 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688329C>T | CA346746827 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688330T>A | CA426125037 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688330T>C | CA426125038 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688330T>G | CA426125039 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688330T= | CA1248601085 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688330_48688331insGATT | CA1248601084 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688331C>A | CA346746834 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688331C= | CA1248601086 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688331C>G | CA346746832 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688331C>T | CA346746829 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688331_48688332insT | CA1248601088 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688332C>A | CA346746837 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688332C= | CA1248601087 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688332C>G | CA346746839 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688332C>T | CA346746842 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688333A>C | CA426125046 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688333A>G | CA426125047 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688333A>T | CA426125048 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688334A= | CA1248601089 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688334A>C | CA346746847 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688334A>G | CA346746848 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688334A>T | CA346746849 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688334_48688348delinsAGCATAATCAGAATG | CA1248601090 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688334_48688335insT | CA1248601091 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688335G>A | CA346746851 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688335G>C | CA346746854 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688335G>T | CA346746855 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688339_48688352del | CA1248601092 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688336C>A | CA346746859 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688336C>G | CA346746861 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688336C>T | CA346746864 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688337A>C | CA346746873 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688337A>G | CA346746871 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688337A>T | CA346746867 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688338T>A | CA346746875 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688338T>C | CA346746878 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688338T>G | CA346746876 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688339A= | CA1248601093 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688339A>C | CA46752962 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688339A>G | CA426125050 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688339A>T | CA426125052 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688339_48688340insCCC | CA2749836837 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688340A>C | CA346746883 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688340A>G | CA346746881 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688340A>T | CA346746882 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688341T>A | CA346746885 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688341T>C | CA346746886 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688341T>G | CA346746887 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688342C>A | CA426125059 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688342C>G | CA426125060 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688342C>T | CA426125061 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688343A= | CA1248601094 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688343A>C | CA346746890 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688343A>G | CA346746891 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688343A>T | CA346746892 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688344G>A | CA426125062 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688344G>C | CA346746894 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688344G= | CA1248601095 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688344G>T | CA1653024 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688345A>C | CA346746897 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688345A>G | CA426125065 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688345A>T | CA426125064 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688346A>C | CA346746902 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688346A>G | CA346746899 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688346A>T | CA346746900 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688347T>A | CA346746904 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688347T>C | CA346746905 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688347T>G | CA1653025 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688347T= | CA1248601096 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688348G>A | CA426125069 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688348G>C | CA426125070 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688348G>T | CA426125071 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688349G>A | CA1653026 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688349G>C | CA346746907 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688349G= | CA1248601097 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688349G>T | CA346746909 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688350C>A | CA346746910 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688350C>G | CA346746911 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688350C>T | CA346746913 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688351A= | CA1248601098 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1446T= (p.His482=) c.948-212T= (n.948-212T=) c.3441+16671A= (n.3441+16671A=) c.*190T= (n.*190T=) c.1365T= (p.His455=) c.276+16671A= (n.276+16671A=) c.*220+5873T= (n.*220+5873T=) c.489T= (p.His163=) c.516T= (p.His172=) c.1371T= (p.His457=) c.1185T= (p.His395=) c.1104T= (p.His368=) c.810T= (p.His270=) c.1191T= (p.His397=) | |
2 | g.48688351A>C | CA346746915 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1446T>G (p.His482Gln) c.948-212T>G (n.948-212T>G) c.3441+16671A>C (n.3441+16671A>C) c.*190T>G (n.*190T>G) c.1365T>G (p.His455Gln) c.276+16671A>C (n.276+16671A>C) c.*220+5873T>G (n.*220+5873T>G) c.489T>G (p.His163Gln) c.516T>G (p.His172Gln) c.1371T>G (p.His457Gln) c.1185T>G (p.His395Gln) c.1104T>G (p.His368Gln) c.810T>G (p.His270Gln) c.1191T>G (p.His397Gln) | |
2 | g.48688351A>G | CA426125073 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1446T>C (p.His482=) c.948-212T>C (n.948-212T>C) c.3441+16671A>G (n.3441+16671A>G) c.*190T>C (n.*190T>C) c.1365T>C (p.His455=) c.276+16671A>G (n.276+16671A>G) c.*220+5873T>C (n.*220+5873T>C) c.489T>C (p.His163=) c.516T>C (p.His172=) c.1371T>C (p.His457=) c.1185T>C (p.His395=) c.1104T>C (p.His368=) c.810T>C (p.His270=) c.1191T>C (p.His397=) | dbSNP gnomAD v4 |
2 | g.48688351A>T | CA346746917 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1446T>A (p.His482Gln) c.948-212T>A (n.948-212T>A) c.3441+16671A>T (n.3441+16671A>T) c.*190T>A (n.*190T>A) c.1365T>A (p.His455Gln) c.276+16671A>T (n.276+16671A>T) c.*220+5873T>A (n.*220+5873T>A) c.489T>A (p.His163Gln) c.516T>A (p.His172Gln) c.1371T>A (p.His457Gln) c.1185T>A (p.His395Gln) c.1104T>A (p.His368Gln) c.810T>A (p.His270Gln) c.1191T>A (p.His397Gln) | |
2 | g.48688352T>A | CA346746920 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1445A>T (p.His482Leu) c.948-213A>T (n.948-213A>T) c.3441+16672T>A (n.3441+16672T>A) c.*189A>T (n.*189A>T) c.1364A>T (p.His455Leu) c.276+16672T>A (n.276+16672T>A) c.*220+5872A>T (n.*220+5872A>T) c.488A>T (p.His163Leu) c.515A>T (p.His172Leu) c.1370A>T (p.His457Leu) c.1184A>T (p.His395Leu) c.1103A>T (p.His368Leu) c.809A>T (p.His270Leu) c.1190A>T (p.His397Leu) | dbSNP |
2 | g.48688352T>C | CA346746922 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1445A>G (p.His482Arg) c.948-213A>G (n.948-213A>G) c.3441+16672T>C (n.3441+16672T>C) c.*189A>G (n.*189A>G) c.1364A>G (p.His455Arg) c.276+16672T>C (n.276+16672T>C) c.*220+5872A>G (n.*220+5872A>G) c.488A>G (p.His163Arg) c.515A>G (p.His172Arg) c.1370A>G (p.His457Arg) c.1184A>G (p.His395Arg) c.1103A>G (p.His368Arg) c.809A>G (p.His270Arg) c.1190A>G (p.His397Arg) | dbSNP gnomAD v4 |
2 | g.48688352T>G | CA346746918 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1445A>C (p.His482Pro) c.948-213A>C (n.948-213A>C) c.3441+16672T>G (n.3441+16672T>G) c.*189A>C (n.*189A>C) c.1364A>C (p.His455Pro) c.276+16672T>G (n.276+16672T>G) c.*220+5872A>C (n.*220+5872A>C) c.488A>C (p.His163Pro) c.515A>C (p.His172Pro) c.1370A>C (p.His457Pro) c.1184A>C (p.His395Pro) c.1103A>C (p.His368Pro) c.809A>C (p.His270Pro) c.1190A>C (p.His397Pro) | |
2 | g.48688352T= | CA1248601099 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1445A= (p.His482=) c.948-213A= (n.948-213A=) c.3441+16672T= (n.3441+16672T=) c.*189A= (n.*189A=) c.1364A= (p.His455=) c.276+16672T= (n.276+16672T=) c.*220+5872A= (n.*220+5872A=) c.488A= (p.His163=) c.515A= (p.His172=) c.1370A= (p.His457=) c.1184A= (p.His395=) c.1103A= (p.His368=) c.809A= (p.His270=) c.1190A= (p.His397=) | |
2 | g.48688353G>A | CA346746924 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1444C>T (p.His482Tyr) c.948-214C>T (n.948-214C>T) c.3441+16673G>A (n.3441+16673G>A) c.*188C>T (n.*188C>T) c.1363C>T (p.His455Tyr) c.276+16673G>A (n.276+16673G>A) c.*220+5871C>T (n.*220+5871C>T) c.487C>T (p.His163Tyr) c.514C>T (p.His172Tyr) c.1369C>T (p.His457Tyr) c.1183C>T (p.His395Tyr) c.1102C>T (p.His368Tyr) c.808C>T (p.His270Tyr) c.1189C>T (p.His397Tyr) | dbSNP |
2 | g.48688353G>C | CA346746925 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1444C>G (p.His482Asp) c.948-214C>G (n.948-214C>G) c.3441+16673G>C (n.3441+16673G>C) c.*188C>G (n.*188C>G) c.1363C>G (p.His455Asp) c.276+16673G>C (n.276+16673G>C) c.*220+5871C>G (n.*220+5871C>G) c.487C>G (p.His163Asp) c.514C>G (p.His172Asp) c.1369C>G (p.His457Asp) c.1183C>G (p.His395Asp) c.1102C>G (p.His368Asp) c.808C>G (p.His270Asp) c.1189C>G (p.His397Asp) | |
2 | g.48688353G= | CA1248601100 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1444C= (p.His482=) c.948-214C= (n.948-214C=) c.3441+16673G= (n.3441+16673G=) c.*188C= (n.*188C=) c.1363C= (p.His455=) c.276+16673G= (n.276+16673G=) c.*220+5871C= (n.*220+5871C=) c.487C= (p.His163=) c.514C= (p.His172=) c.1369C= (p.His457=) c.1183C= (p.His395=) c.1102C= (p.His368=) c.808C= (p.His270=) c.1189C= (p.His397=) | |
2 | g.48688353G>T | CA346746927 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1444C>A (p.His482Asn) c.948-214C>A (n.948-214C>A) c.3441+16673G>T (n.3441+16673G>T) c.*188C>A (n.*188C>A) c.1363C>A (p.His455Asn) c.276+16673G>T (n.276+16673G>T) c.*220+5871C>A (n.*220+5871C>A) c.487C>A (p.His163Asn) c.514C>A (p.His172Asn) c.1369C>A (p.His457Asn) c.1183C>A (p.His395Asn) c.1102C>A (p.His368Asn) c.808C>A (p.His270Asn) c.1189C>A (p.His397Asn) | |
2 | g.48688354T>A | CA346746929 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1443A>T (p.Arg481Ser) c.948-215A>T (n.948-215A>T) c.3441+16674T>A (n.3441+16674T>A) c.*187A>T (n.*187A>T) c.1362A>T (p.Arg454Ser) c.276+16674T>A (n.276+16674T>A) c.*220+5870A>T (n.*220+5870A>T) c.486A>T (p.Arg162Ser) c.513A>T (p.Arg171Ser) c.1368A>T (p.Arg456Ser) c.1182A>T (p.Arg394Ser) c.1101A>T (p.Arg367Ser) c.807A>T (p.Arg269Ser) c.1188A>T (p.Arg396Ser) | |
2 | g.48688354T>C | CA426125078 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1443A>G (p.Arg481=) c.948-215A>G (n.948-215A>G) c.3441+16674T>C (n.3441+16674T>C) c.*187A>G (n.*187A>G) c.1362A>G (p.Arg454=) c.276+16674T>C (n.276+16674T>C) c.*220+5870A>G (n.*220+5870A>G) c.486A>G (p.Arg162=) c.513A>G (p.Arg171=) c.1368A>G (p.Arg456=) c.1182A>G (p.Arg394=) c.1101A>G (p.Arg367=) c.807A>G (p.Arg269=) c.1188A>G (p.Arg396=) | |
2 | g.48688354T>G | CA346746930 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1443A>C (p.Arg481Ser) c.948-215A>C (n.948-215A>C) c.3441+16674T>G (n.3441+16674T>G) c.*187A>C (n.*187A>C) c.1362A>C (p.Arg454Ser) c.276+16674T>G (n.276+16674T>G) c.*220+5870A>C (n.*220+5870A>C) c.486A>C (p.Arg162Ser) c.513A>C (p.Arg171Ser) c.1368A>C (p.Arg456Ser) c.1182A>C (p.Arg394Ser) c.1101A>C (p.Arg367Ser) c.807A>C (p.Arg269Ser) c.1188A>C (p.Arg396Ser) | gnomAD v4 |
2 | g.48688355C>A | CA346746932 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1442G>T (p.Arg481Ile) c.948-216G>T (n.948-216G>T) c.3441+16675C>A (n.3441+16675C>A) c.*186G>T (n.*186G>T) c.1361G>T (p.Arg454Ile) c.276+16675C>A (n.276+16675C>A) c.*220+5869G>T (n.*220+5869G>T) c.485G>T (p.Arg162Ile) c.512G>T (p.Arg171Ile) c.1367G>T (p.Arg456Ile) c.1181G>T (p.Arg394Ile) c.1100G>T (p.Arg367Ile) c.806G>T (p.Arg269Ile) c.1187G>T (p.Arg396Ile) | |
2 | g.48688355C>G | CA346746933 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1442G>C (p.Arg481Thr) c.948-216G>C (n.948-216G>C) c.3441+16675C>G (n.3441+16675C>G) c.*186G>C (n.*186G>C) c.1361G>C (p.Arg454Thr) c.276+16675C>G (n.276+16675C>G) c.*220+5869G>C (n.*220+5869G>C) c.485G>C (p.Arg162Thr) c.512G>C (p.Arg171Thr) c.1367G>C (p.Arg456Thr) c.1181G>C (p.Arg394Thr) c.1100G>C (p.Arg367Thr) c.806G>C (p.Arg269Thr) c.1187G>C (p.Arg396Thr) | |
2 | g.48688355C>T | CA346746935 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1442G>A (p.Arg481Lys) c.948-216G>A (n.948-216G>A) c.3441+16675C>T (n.3441+16675C>T) c.*186G>A (n.*186G>A) c.1361G>A (p.Arg454Lys) c.276+16675C>T (n.276+16675C>T) c.*220+5869G>A (n.*220+5869G>A) c.485G>A (p.Arg162Lys) c.512G>A (p.Arg171Lys) c.1367G>A (p.Arg456Lys) c.1181G>A (p.Arg394Lys) c.1100G>A (p.Arg367Lys) c.806G>A (p.Arg269Lys) c.1187G>A (p.Arg396Lys) | |
2 | g.48688356T>A | CA346746937 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1441A>T (p.Arg481Ter) c.948-217A>T (n.948-217A>T) c.3441+16676T>A (n.3441+16676T>A) c.*185A>T (n.*185A>T) c.1360A>T (p.Arg454Ter) c.276+16676T>A (n.276+16676T>A) c.*220+5868A>T (n.*220+5868A>T) c.484A>T (p.Arg162Ter) c.511A>T (p.Arg171Ter) c.1366A>T (p.Arg456Ter) c.1180A>T (p.Arg394Ter) c.1099A>T (p.Arg367Ter) c.805A>T (p.Arg269Ter) c.1186A>T (p.Arg396Ter) | |
2 | g.48688356T>C | CA346746939 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1441A>G (p.Arg481Gly) c.948-217A>G (n.948-217A>G) c.3441+16676T>C (n.3441+16676T>C) c.*185A>G (n.*185A>G) c.1360A>G (p.Arg454Gly) c.276+16676T>C (n.276+16676T>C) c.*220+5868A>G (n.*220+5868A>G) c.484A>G (p.Arg162Gly) c.511A>G (p.Arg171Gly) c.1366A>G (p.Arg456Gly) c.1180A>G (p.Arg394Gly) c.1099A>G (p.Arg367Gly) c.805A>G (p.Arg269Gly) c.1186A>G (p.Arg396Gly) | COSMIC |
2 | g.48688356T>G | CA426125082 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1441A>C (p.Arg481=) c.948-217A>C (n.948-217A>C) c.3441+16676T>G (n.3441+16676T>G) c.*185A>C (n.*185A>C) c.1360A>C (p.Arg454=) c.276+16676T>G (n.276+16676T>G) c.*220+5868A>C (n.*220+5868A>C) c.484A>C (p.Arg162=) c.511A>C (p.Arg171=) c.1366A>C (p.Arg456=) c.1180A>C (p.Arg394=) c.1099A>C (p.Arg367=) c.805A>C (p.Arg269=) c.1186A>C (p.Arg396=) | |
2 | g.48688357T>A | CA346746940 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1440A>T (p.Leu480Phe) c.948-218A>T (n.948-218A>T) c.3441+16677T>A (n.3441+16677T>A) c.*184A>T (n.*184A>T) c.1359A>T (p.Leu453Phe) c.276+16677T>A (n.276+16677T>A) c.*220+5867A>T (n.*220+5867A>T) c.483A>T (p.Leu161Phe) c.510A>T (p.Leu170Phe) c.1365A>T (p.Leu455Phe) c.1179A>T (p.Leu393Phe) c.1098A>T (p.Leu366Phe) c.804A>T (p.Leu268Phe) c.1185A>T (p.Leu395Phe) | |
2 | g.48688357T>C | CA426125085 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1440A>G (p.Leu480=) c.948-218A>G (n.948-218A>G) c.3441+16677T>C (n.3441+16677T>C) c.*184A>G (n.*184A>G) c.1359A>G (p.Leu453=) c.276+16677T>C (n.276+16677T>C) c.*220+5867A>G (n.*220+5867A>G) c.483A>G (p.Leu161=) c.510A>G (p.Leu170=) c.1365A>G (p.Leu455=) c.1179A>G (p.Leu393=) c.1098A>G (p.Leu366=) c.804A>G (p.Leu268=) c.1185A>G (p.Leu395=) | |
2 | g.48688357T>G | CA346746941 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1440A>C (p.Leu480Phe) c.948-218A>C (n.948-218A>C) c.3441+16677T>G (n.3441+16677T>G) c.*184A>C (n.*184A>C) c.1359A>C (p.Leu453Phe) c.276+16677T>G (n.276+16677T>G) c.*220+5867A>C (n.*220+5867A>C) c.483A>C (p.Leu161Phe) c.510A>C (p.Leu170Phe) c.1365A>C (p.Leu455Phe) c.1179A>C (p.Leu393Phe) c.1098A>C (p.Leu366Phe) c.804A>C (p.Leu268Phe) c.1185A>C (p.Leu395Phe) | |
2 | g.48688358A>C | CA346746947 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1439T>G (p.Leu480Ter) c.948-219T>G (n.948-219T>G) c.3441+16678A>C (n.3441+16678A>C) c.*183T>G (n.*183T>G) c.1358T>G (p.Leu453Ter) c.276+16678A>C (n.276+16678A>C) c.*220+5866T>G (n.*220+5866T>G) c.482T>G (p.Leu161Ter) c.509T>G (p.Leu170Ter) c.1364T>G (p.Leu455Ter) c.1178T>G (p.Leu393Ter) c.1097T>G (p.Leu366Ter) c.803T>G (p.Leu268Ter) c.1184T>G (p.Leu395Ter) | |
2 | g.48688358A>G | CA346746944 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1439T>C (p.Leu480Ser) c.948-219T>C (n.948-219T>C) c.3441+16678A>G (n.3441+16678A>G) c.*183T>C (n.*183T>C) c.1358T>C (p.Leu453Ser) c.276+16678A>G (n.276+16678A>G) c.*220+5866T>C (n.*220+5866T>C) c.482T>C (p.Leu161Ser) c.509T>C (p.Leu170Ser) c.1364T>C (p.Leu455Ser) c.1178T>C (p.Leu393Ser) c.1097T>C (p.Leu366Ser) c.803T>C (p.Leu268Ser) c.1184T>C (p.Leu395Ser) | gnomAD v4 COSMIC |
2 | g.48688358A>T | CA346746945 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1439T>A (p.Leu480Ter) c.948-219T>A (n.948-219T>A) c.3441+16678A>T (n.3441+16678A>T) c.*183T>A (n.*183T>A) c.1358T>A (p.Leu453Ter) c.276+16678A>T (n.276+16678A>T) c.*220+5866T>A (n.*220+5866T>A) c.482T>A (p.Leu161Ter) c.509T>A (p.Leu170Ter) c.1364T>A (p.Leu455Ter) c.1178T>A (p.Leu393Ter) c.1097T>A (p.Leu366Ter) c.803T>A (p.Leu268Ter) c.1184T>A (p.Leu395Ter) | |
2 | g.48688359A>C | CA346746948 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1438T>G (p.Leu480Val) c.948-220T>G (n.948-220T>G) c.3441+16679A>C (n.3441+16679A>C) c.*182T>G (n.*182T>G) c.1357T>G (p.Leu453Val) c.276+16679A>C (n.276+16679A>C) c.*220+5865T>G (n.*220+5865T>G) c.481T>G (p.Leu161Val) c.508T>G (p.Leu170Val) c.1363T>G (p.Leu455Val) c.1177T>G (p.Leu393Val) c.1096T>G (p.Leu366Val) c.802T>G (p.Leu268Val) c.1183T>G (p.Leu395Val) | |
2 | g.48688359A>G | CA426125088 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1438T>C (p.Leu480=) c.948-220T>C (n.948-220T>C) c.3441+16679A>G (n.3441+16679A>G) c.*182T>C (n.*182T>C) c.1357T>C (p.Leu453=) c.276+16679A>G (n.276+16679A>G) c.*220+5865T>C (n.*220+5865T>C) c.481T>C (p.Leu161=) c.508T>C (p.Leu170=) c.1363T>C (p.Leu455=) c.1177T>C (p.Leu393=) c.1096T>C (p.Leu366=) c.802T>C (p.Leu268=) c.1183T>C (p.Leu395=) | |
2 | g.48688359A>T | CA346746949 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1438T>A (p.Leu480Ile) c.948-220T>A (n.948-220T>A) c.3441+16679A>T (n.3441+16679A>T) c.*182T>A (n.*182T>A) c.1357T>A (p.Leu453Ile) c.276+16679A>T (n.276+16679A>T) c.*220+5865T>A (n.*220+5865T>A) c.481T>A (p.Leu161Ile) c.508T>A (p.Leu170Ile) c.1363T>A (p.Leu455Ile) c.1177T>A (p.Leu393Ile) c.1096T>A (p.Leu366Ile) c.802T>A (p.Leu268Ile) c.1183T>A (p.Leu395Ile) | |
2 | g.48688360T>A | CA426125089 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1437A>T (p.Arg479=) c.948-221A>T (n.948-221A>T) c.3441+16680T>A (n.3441+16680T>A) c.*181A>T (n.*181A>T) c.1356A>T (p.Arg452=) c.276+16680T>A (n.276+16680T>A) c.*220+5864A>T (n.*220+5864A>T) c.480A>T (p.Arg160=) c.507A>T (p.Arg169=) c.1362A>T (p.Arg454=) c.1176A>T (p.Arg392=) c.1095A>T (p.Arg365=) c.801A>T (p.Arg267=) c.1182A>T (p.Arg394=) | |
2 | g.48688360T>C | CA426125090 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1437A>G (p.Arg479=) c.948-221A>G (n.948-221A>G) c.3441+16680T>C (n.3441+16680T>C) c.*181A>G (n.*181A>G) c.1356A>G (p.Arg452=) c.276+16680T>C (n.276+16680T>C) c.*220+5864A>G (n.*220+5864A>G) c.480A>G (p.Arg160=) c.507A>G (p.Arg169=) c.1362A>G (p.Arg454=) c.1176A>G (p.Arg392=) c.1095A>G (p.Arg365=) c.801A>G (p.Arg267=) c.1182A>G (p.Arg394=) | |
2 | g.48688360T>G | CA1653027 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1437A>C (p.Arg479=) c.948-221A>C (n.948-221A>C) c.3441+16680T>G (n.3441+16680T>G) c.*181A>C (n.*181A>C) c.1356A>C (p.Arg452=) c.276+16680T>G (n.276+16680T>G) c.*220+5864A>C (n.*220+5864A>C) c.480A>C (p.Arg160=) c.507A>C (p.Arg169=) c.1362A>C (p.Arg454=) c.1176A>C (p.Arg392=) c.1095A>C (p.Arg365=) c.801A>C (p.Arg267=) c.1182A>C (p.Arg394=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688360T= | CA1248601101 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1437A= (p.Arg479=) c.948-221A= (n.948-221A=) c.3441+16680T= (n.3441+16680T=) c.*181A= (n.*181A=) c.1356A= (p.Arg452=) c.276+16680T= (n.276+16680T=) c.*220+5864A= (n.*220+5864A=) c.480A= (p.Arg160=) c.507A= (p.Arg169=) c.1362A= (p.Arg454=) c.1176A= (p.Arg392=) c.1095A= (p.Arg365=) c.801A= (p.Arg267=) c.1182A= (p.Arg394=) | |
2 | g.48688361C>A | CA346746952 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1436G>T (p.Arg479Leu) c.948-222G>T (n.948-222G>T) c.3441+16681C>A (n.3441+16681C>A) c.*180G>T (n.*180G>T) c.1355G>T (p.Arg452Leu) c.276+16681C>A (n.276+16681C>A) c.*220+5863G>T (n.*220+5863G>T) c.479G>T (p.Arg160Leu) c.506G>T (p.Arg169Leu) c.1361G>T (p.Arg454Leu) c.1175G>T (p.Arg392Leu) c.1094G>T (p.Arg365Leu) c.800G>T (p.Arg267Leu) c.1181G>T (p.Arg394Leu) | COSMIC |
2 | g.48688361C= | CA1248601102 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1436G= (p.Arg479=) c.948-222G= (n.948-222G=) c.3441+16681C= (n.3441+16681C=) c.*180G= (n.*180G=) c.1355G= (p.Arg452=) c.276+16681C= (n.276+16681C=) c.*220+5863G= (n.*220+5863G=) c.479G= (p.Arg160=) c.506G= (p.Arg169=) c.1361G= (p.Arg454=) c.1175G= (p.Arg392=) c.1094G= (p.Arg365=) c.800G= (p.Arg267=) c.1181G= (p.Arg394=) | |
2 | g.48688361C>G | CA346746954 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1436G>C (p.Arg479Pro) c.948-222G>C (n.948-222G>C) c.3441+16681C>G (n.3441+16681C>G) c.*180G>C (n.*180G>C) c.1355G>C (p.Arg452Pro) c.276+16681C>G (n.276+16681C>G) c.*220+5863G>C (n.*220+5863G>C) c.479G>C (p.Arg160Pro) c.506G>C (p.Arg169Pro) c.1361G>C (p.Arg454Pro) c.1175G>C (p.Arg392Pro) c.1094G>C (p.Arg365Pro) c.800G>C (p.Arg267Pro) c.1181G>C (p.Arg394Pro) | |
2 | g.48688361C>T | CA1653028 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1436G>A (p.Arg479Gln) c.948-222G>A (n.948-222G>A) c.3441+16681C>T (n.3441+16681C>T) c.*180G>A (n.*180G>A) c.1355G>A (p.Arg452Gln) c.276+16681C>T (n.276+16681C>T) c.*220+5863G>A (n.*220+5863G>A) c.479G>A (p.Arg160Gln) c.506G>A (p.Arg169Gln) c.1361G>A (p.Arg454Gln) c.1175G>A (p.Arg392Gln) c.1094G>A (p.Arg365Gln) c.800G>A (p.Arg267Gln) c.1181G>A (p.Arg394Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.48688362G>A | CA1653029 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1435C>T (p.Arg479Ter) c.948-223C>T (n.948-223C>T) c.3441+16682G>A (n.3441+16682G>A) c.*179C>T (n.*179C>T) c.1354C>T (p.Arg452Ter) c.276+16682G>A (n.276+16682G>A) c.*220+5862C>T (n.*220+5862C>T) c.478C>T (p.Arg160Ter) c.505C>T (p.Arg169Ter) c.1360C>T (p.Arg454Ter) c.1174C>T (p.Arg392Ter) c.1093C>T (p.Arg365Ter) c.799C>T (p.Arg267Ter) c.1180C>T (p.Arg394Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688362G>C | CA346746957 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1435C>G (p.Arg479Gly) c.948-223C>G (n.948-223C>G) c.3441+16682G>C (n.3441+16682G>C) c.*179C>G (n.*179C>G) c.1354C>G (p.Arg452Gly) c.276+16682G>C (n.276+16682G>C) c.*220+5862C>G (n.*220+5862C>G) c.478C>G (p.Arg160Gly) c.505C>G (p.Arg169Gly) c.1360C>G (p.Arg454Gly) c.1174C>G (p.Arg392Gly) c.1093C>G (p.Arg365Gly) c.799C>G (p.Arg267Gly) c.1180C>G (p.Arg394Gly) | |
2 | g.48688362G= | CA1248601103 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1435C= (p.Arg479=) c.948-223C= (n.948-223C=) c.3441+16682G= (n.3441+16682G=) c.*179C= (n.*179C=) c.1354C= (p.Arg452=) c.276+16682G= (n.276+16682G=) c.*220+5862C= (n.*220+5862C=) c.478C= (p.Arg160=) c.505C= (p.Arg169=) c.1360C= (p.Arg454=) c.1174C= (p.Arg392=) c.1093C= (p.Arg365=) c.799C= (p.Arg267=) c.1180C= (p.Arg394=) | |
2 | g.48688362G>T | CA426125094 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1435C>A (p.Arg479=) c.948-223C>A (n.948-223C>A) c.3441+16682G>T (n.3441+16682G>T) c.*179C>A (n.*179C>A) c.1354C>A (p.Arg452=) c.276+16682G>T (n.276+16682G>T) c.*220+5862C>A (n.*220+5862C>A) c.478C>A (p.Arg160=) c.505C>A (p.Arg169=) c.1360C>A (p.Arg454=) c.1174C>A (p.Arg392=) c.1093C>A (p.Arg365=) c.799C>A (p.Arg267=) c.1180C>A (p.Arg394=) |