Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.48687766G>A | CA426124974 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2031C>T (p.Thr677=) c.*343C>T (n.*343C>T) c.3441+16086G>A (n.3441+16086G>A) c.*775C>T (n.*775C>T) c.1950C>T (p.Thr650=) c.276+16086G>A (n.276+16086G>A) c.*220+6458C>T (n.*220+6458C>T) c.1074C>T (p.Thr358=) c.1101C>T (p.Thr367=) c.1956C>T (p.Thr652=) c.1770C>T (p.Thr590=) c.1689C>T (p.Thr563=) c.1395C>T (p.Thr465=) c.1776C>T (p.Thr592=) | |
2 | g.48687766G>C | CA1652945 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2031C>G (p.Thr677=) c.*343C>G (n.*343C>G) c.3441+16086G>C (n.3441+16086G>C) c.*775C>G (n.*775C>G) c.1950C>G (p.Thr650=) c.276+16086G>C (n.276+16086G>C) c.*220+6458C>G (n.*220+6458C>G) c.1074C>G (p.Thr358=) c.1101C>G (p.Thr367=) c.1956C>G (p.Thr652=) c.1770C>G (p.Thr590=) c.1689C>G (p.Thr563=) c.1395C>G (p.Thr465=) c.1776C>G (p.Thr592=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687766G= | CA1248600829 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2031C= (p.Thr677=) c.*343C= (n.*343C=) c.3441+16086G= (n.3441+16086G=) c.*775C= (n.*775C=) c.1950C= (p.Thr650=) c.276+16086G= (n.276+16086G=) c.*220+6458C= (n.*220+6458C=) c.1074C= (p.Thr358=) c.1101C= (p.Thr367=) c.1956C= (p.Thr652=) c.1770C= (p.Thr590=) c.1689C= (p.Thr563=) c.1395C= (p.Thr465=) c.1776C= (p.Thr592=) | |
2 | g.48687766G>T | CA426124975 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2031C>A (p.Thr677=) c.*343C>A (n.*343C>A) c.3441+16086G>T (n.3441+16086G>T) c.*775C>A (n.*775C>A) c.1950C>A (p.Thr650=) c.276+16086G>T (n.276+16086G>T) c.*220+6458C>A (n.*220+6458C>A) c.1074C>A (p.Thr358=) c.1101C>A (p.Thr367=) c.1956C>A (p.Thr652=) c.1770C>A (p.Thr590=) c.1689C>A (p.Thr563=) c.1395C>A (p.Thr465=) c.1776C>A (p.Thr592=) | |
2 | g.48687767G>A | CA346743109 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2030C>T (p.Thr677Ile) c.*342C>T (n.*342C>T) c.3441+16087G>A (n.3441+16087G>A) c.*774C>T (n.*774C>T) c.1949C>T (p.Thr650Ile) c.276+16087G>A (n.276+16087G>A) c.*220+6457C>T (n.*220+6457C>T) c.1073C>T (p.Thr358Ile) c.1100C>T (p.Thr367Ile) c.1955C>T (p.Thr652Ile) c.1769C>T (p.Thr590Ile) c.1688C>T (p.Thr563Ile) c.1394C>T (p.Thr465Ile) c.1775C>T (p.Thr592Ile) | |
2 | g.48687767G>C | CA346743111 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2030C>G (p.Thr677Ser) c.*342C>G (n.*342C>G) c.3441+16087G>C (n.3441+16087G>C) c.*774C>G (n.*774C>G) c.1949C>G (p.Thr650Ser) c.276+16087G>C (n.276+16087G>C) c.*220+6457C>G (n.*220+6457C>G) c.1073C>G (p.Thr358Ser) c.1100C>G (p.Thr367Ser) c.1955C>G (p.Thr652Ser) c.1769C>G (p.Thr590Ser) c.1688C>G (p.Thr563Ser) c.1394C>G (p.Thr465Ser) c.1775C>G (p.Thr592Ser) | COSMIC |
2 | g.48687767G>T | CA346743112 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2030C>A (p.Thr677Asn) c.*342C>A (n.*342C>A) c.3441+16087G>T (n.3441+16087G>T) c.*774C>A (n.*774C>A) c.1949C>A (p.Thr650Asn) c.276+16087G>T (n.276+16087G>T) c.*220+6457C>A (n.*220+6457C>A) c.1073C>A (p.Thr358Asn) c.1100C>A (p.Thr367Asn) c.1955C>A (p.Thr652Asn) c.1769C>A (p.Thr590Asn) c.1688C>A (p.Thr563Asn) c.1394C>A (p.Thr465Asn) c.1775C>A (p.Thr592Asn) | |
2 | g.48687768T>A | CA346743116 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2029A>T (p.Thr677Ser) c.*341A>T (n.*341A>T) c.3441+16088T>A (n.3441+16088T>A) c.*773A>T (n.*773A>T) c.1948A>T (p.Thr650Ser) c.276+16088T>A (n.276+16088T>A) c.*220+6456A>T (n.*220+6456A>T) c.1072A>T (p.Thr358Ser) c.1099A>T (p.Thr367Ser) c.1954A>T (p.Thr652Ser) c.1768A>T (p.Thr590Ser) c.1687A>T (p.Thr563Ser) c.1393A>T (p.Thr465Ser) c.1774A>T (p.Thr592Ser) | gnomAD v4 |
2 | g.48687768T>C | CA346743122 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2029A>G (p.Thr677Ala) c.*341A>G (n.*341A>G) c.3441+16088T>C (n.3441+16088T>C) c.*773A>G (n.*773A>G) c.1948A>G (p.Thr650Ala) c.276+16088T>C (n.276+16088T>C) c.*220+6456A>G (n.*220+6456A>G) c.1072A>G (p.Thr358Ala) c.1099A>G (p.Thr367Ala) c.1954A>G (p.Thr652Ala) c.1768A>G (p.Thr590Ala) c.1687A>G (p.Thr563Ala) c.1393A>G (p.Thr465Ala) c.1774A>G (p.Thr592Ala) | dbSNP |
2 | g.48687768T>G | CA346743124 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2029A>C (p.Thr677Pro) c.*341A>C (n.*341A>C) c.3441+16088T>G (n.3441+16088T>G) c.*773A>C (n.*773A>C) c.1948A>C (p.Thr650Pro) c.276+16088T>G (n.276+16088T>G) c.*220+6456A>C (n.*220+6456A>C) c.1072A>C (p.Thr358Pro) c.1099A>C (p.Thr367Pro) c.1954A>C (p.Thr652Pro) c.1768A>C (p.Thr590Pro) c.1687A>C (p.Thr563Pro) c.1393A>C (p.Thr465Pro) c.1774A>C (p.Thr592Pro) | |
2 | g.48687769G>A | CA46752464 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2028C>T (p.Ser676=) c.*340C>T (n.*340C>T) c.3441+16089G>A (n.3441+16089G>A) c.*772C>T (n.*772C>T) c.1947C>T (p.Ser649=) c.276+16089G>A (n.276+16089G>A) c.*220+6455C>T (n.*220+6455C>T) c.1071C>T (p.Ser357=) c.1098C>T (p.Ser366=) c.1953C>T (p.Ser651=) c.1767C>T (p.Ser589=) c.1686C>T (p.Ser562=) c.1392C>T (p.Ser464=) c.1773C>T (p.Ser591=) | dbSNP gnomAD v4 COSMIC |
2 | g.48687769G>C | CA426124983 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2028C>G (p.Ser676=) c.*340C>G (n.*340C>G) c.3441+16089G>C (n.3441+16089G>C) c.*772C>G (n.*772C>G) c.1947C>G (p.Ser649=) c.276+16089G>C (n.276+16089G>C) c.*220+6455C>G (n.*220+6455C>G) c.1071C>G (p.Ser357=) c.1098C>G (p.Ser366=) c.1953C>G (p.Ser651=) c.1767C>G (p.Ser589=) c.1686C>G (p.Ser562=) c.1392C>G (p.Ser464=) c.1773C>G (p.Ser591=) | |
2 | g.48687769G= | CA1248600830 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2028C= (p.Ser676=) c.*340C= (n.*340C=) c.3441+16089G= (n.3441+16089G=) c.*772C= (n.*772C=) c.1947C= (p.Ser649=) c.276+16089G= (n.276+16089G=) c.*220+6455C= (n.*220+6455C=) c.1071C= (p.Ser357=) c.1098C= (p.Ser366=) c.1953C= (p.Ser651=) c.1767C= (p.Ser589=) c.1686C= (p.Ser562=) c.1392C= (p.Ser464=) c.1773C= (p.Ser591=) | |
2 | g.48687769G>T | CA426124984 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2028C>A (p.Ser676=) c.*340C>A (n.*340C>A) c.3441+16089G>T (n.3441+16089G>T) c.*772C>A (n.*772C>A) c.1947C>A (p.Ser649=) c.276+16089G>T (n.276+16089G>T) c.*220+6455C>A (n.*220+6455C>A) c.1071C>A (p.Ser357=) c.1098C>A (p.Ser366=) c.1953C>A (p.Ser651=) c.1767C>A (p.Ser589=) c.1686C>A (p.Ser562=) c.1392C>A (p.Ser464=) c.1773C>A (p.Ser591=) | |
2 | g.48687770G>A | CA346743141 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2027C>T (p.Ser676Phe) c.*339C>T (n.*339C>T) c.3441+16090G>A (n.3441+16090G>A) c.*771C>T (n.*771C>T) c.1946C>T (p.Ser649Phe) c.276+16090G>A (n.276+16090G>A) c.*220+6454C>T (n.*220+6454C>T) c.1070C>T (p.Ser357Phe) c.1097C>T (p.Ser366Phe) c.1952C>T (p.Ser651Phe) c.1766C>T (p.Ser589Phe) c.1685C>T (p.Ser562Phe) c.1391C>T (p.Ser464Phe) c.1772C>T (p.Ser591Phe) | COSMIC |
2 | g.48687770G>C | CA346743136 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2027C>G (p.Ser676Cys) c.*339C>G (n.*339C>G) c.3441+16090G>C (n.3441+16090G>C) c.*771C>G (n.*771C>G) c.1946C>G (p.Ser649Cys) c.276+16090G>C (n.276+16090G>C) c.*220+6454C>G (n.*220+6454C>G) c.1070C>G (p.Ser357Cys) c.1097C>G (p.Ser366Cys) c.1952C>G (p.Ser651Cys) c.1766C>G (p.Ser589Cys) c.1685C>G (p.Ser562Cys) c.1391C>G (p.Ser464Cys) c.1772C>G (p.Ser591Cys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687770G= | CA1248600831 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2027C= (p.Ser676=) c.*339C= (n.*339C=) c.3441+16090G= (n.3441+16090G=) c.*771C= (n.*771C=) c.1946C= (p.Ser649=) c.276+16090G= (n.276+16090G=) c.*220+6454C= (n.*220+6454C=) c.1070C= (p.Ser357=) c.1097C= (p.Ser366=) c.1952C= (p.Ser651=) c.1766C= (p.Ser589=) c.1685C= (p.Ser562=) c.1391C= (p.Ser464=) c.1772C= (p.Ser591=) | |
2 | g.48687770G>T | CA346743139 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2027C>A (p.Ser676Tyr) c.*339C>A (n.*339C>A) c.3441+16090G>T (n.3441+16090G>T) c.*771C>A (n.*771C>A) c.1946C>A (p.Ser649Tyr) c.276+16090G>T (n.276+16090G>T) c.*220+6454C>A (n.*220+6454C>A) c.1070C>A (p.Ser357Tyr) c.1097C>A (p.Ser366Tyr) c.1952C>A (p.Ser651Tyr) c.1766C>A (p.Ser589Tyr) c.1685C>A (p.Ser562Tyr) c.1391C>A (p.Ser464Tyr) c.1772C>A (p.Ser591Tyr) | |
2 | g.48687771A>C | CA346743145 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2026T>G (p.Ser676Ala) c.*338T>G (n.*338T>G) c.3441+16091A>C (n.3441+16091A>C) c.*770T>G (n.*770T>G) c.1945T>G (p.Ser649Ala) c.276+16091A>C (n.276+16091A>C) c.*220+6453T>G (n.*220+6453T>G) c.1069T>G (p.Ser357Ala) c.1096T>G (p.Ser366Ala) c.1951T>G (p.Ser651Ala) c.1765T>G (p.Ser589Ala) c.1684T>G (p.Ser562Ala) c.1390T>G (p.Ser464Ala) c.1771T>G (p.Ser591Ala) | |
2 | g.48687771A>G | CA346743147 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2026T>C (p.Ser676Pro) c.*338T>C (n.*338T>C) c.3441+16091A>G (n.3441+16091A>G) c.*770T>C (n.*770T>C) c.1945T>C (p.Ser649Pro) c.276+16091A>G (n.276+16091A>G) c.*220+6453T>C (n.*220+6453T>C) c.1069T>C (p.Ser357Pro) c.1096T>C (p.Ser366Pro) c.1951T>C (p.Ser651Pro) c.1765T>C (p.Ser589Pro) c.1684T>C (p.Ser562Pro) c.1390T>C (p.Ser464Pro) c.1771T>C (p.Ser591Pro) | |
2 | g.48687771A>T | CA346743151 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2026T>A (p.Ser676Thr) c.*338T>A (n.*338T>A) c.3441+16091A>T (n.3441+16091A>T) c.*770T>A (n.*770T>A) c.1945T>A (p.Ser649Thr) c.276+16091A>T (n.276+16091A>T) c.*220+6453T>A (n.*220+6453T>A) c.1069T>A (p.Ser357Thr) c.1096T>A (p.Ser366Thr) c.1951T>A (p.Ser651Thr) c.1765T>A (p.Ser589Thr) c.1684T>A (p.Ser562Thr) c.1390T>A (p.Ser464Thr) c.1771T>A (p.Ser591Thr) | |
2 | g.48687772T>A | CA346743153 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2025A>T (p.Gln675His) c.*337A>T (n.*337A>T) c.3441+16092T>A (n.3441+16092T>A) c.*769A>T (n.*769A>T) c.1944A>T (p.Gln648His) c.276+16092T>A (n.276+16092T>A) c.*220+6452A>T (n.*220+6452A>T) c.1068A>T (p.Gln356His) c.1095A>T (p.Gln365His) c.1950A>T (p.Gln650His) c.1764A>T (p.Gln588His) c.1683A>T (p.Gln561His) c.1389A>T (p.Gln463His) c.1770A>T (p.Gln590His) | |
2 | g.48687772T>C | CA46752467 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2025A>G (p.Gln675=) c.*337A>G (n.*337A>G) c.3441+16092T>C (n.3441+16092T>C) c.*769A>G (n.*769A>G) c.1944A>G (p.Gln648=) c.276+16092T>C (n.276+16092T>C) c.*220+6452A>G (n.*220+6452A>G) c.1068A>G (p.Gln356=) c.1095A>G (p.Gln365=) c.1950A>G (p.Gln650=) c.1764A>G (p.Gln588=) c.1683A>G (p.Gln561=) c.1389A>G (p.Gln463=) c.1770A>G (p.Gln590=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687772T>G | CA346743154 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2025A>C (p.Gln675His) c.*337A>C (n.*337A>C) c.3441+16092T>G (n.3441+16092T>G) c.*769A>C (n.*769A>C) c.1944A>C (p.Gln648His) c.276+16092T>G (n.276+16092T>G) c.*220+6452A>C (n.*220+6452A>C) c.1068A>C (p.Gln356His) c.1095A>C (p.Gln365His) c.1950A>C (p.Gln650His) c.1764A>C (p.Gln588His) c.1683A>C (p.Gln561His) c.1389A>C (p.Gln463His) c.1770A>C (p.Gln590His) | |
2 | g.48687772T= | CA1248600832 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2025A= (p.Gln675=) c.*337A= (n.*337A=) c.3441+16092T= (n.3441+16092T=) c.*769A= (n.*769A=) c.1944A= (p.Gln648=) c.276+16092T= (n.276+16092T=) c.*220+6452A= (n.*220+6452A=) c.1068A= (p.Gln356=) c.1095A= (p.Gln365=) c.1950A= (p.Gln650=) c.1764A= (p.Gln588=) c.1683A= (p.Gln561=) c.1389A= (p.Gln463=) c.1770A= (p.Gln590=) | |
2 | g.48687773T>A | CA346743156 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2024A>T (p.Gln675Leu) c.*336A>T (n.*336A>T) c.3441+16093T>A (n.3441+16093T>A) c.*768A>T (n.*768A>T) c.1943A>T (p.Gln648Leu) c.276+16093T>A (n.276+16093T>A) c.*220+6451A>T (n.*220+6451A>T) c.1067A>T (p.Gln356Leu) c.1094A>T (p.Gln365Leu) c.1949A>T (p.Gln650Leu) c.1763A>T (p.Gln588Leu) c.1682A>T (p.Gln561Leu) c.1388A>T (p.Gln463Leu) c.1769A>T (p.Gln590Leu) | |
2 | g.48687773T>C | CA346743159 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2024A>G (p.Gln675Arg) c.*336A>G (n.*336A>G) c.3441+16093T>C (n.3441+16093T>C) c.*768A>G (n.*768A>G) c.1943A>G (p.Gln648Arg) c.276+16093T>C (n.276+16093T>C) c.*220+6451A>G (n.*220+6451A>G) c.1067A>G (p.Gln356Arg) c.1094A>G (p.Gln365Arg) c.1949A>G (p.Gln650Arg) c.1763A>G (p.Gln588Arg) c.1682A>G (p.Gln561Arg) c.1388A>G (p.Gln463Arg) c.1769A>G (p.Gln590Arg) | |
2 | g.48687773T>G | CA346743165 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2024A>C (p.Gln675Pro) c.*336A>C (n.*336A>C) c.3441+16093T>G (n.3441+16093T>G) c.*768A>C (n.*768A>C) c.1943A>C (p.Gln648Pro) c.276+16093T>G (n.276+16093T>G) c.*220+6451A>C (n.*220+6451A>C) c.1067A>C (p.Gln356Pro) c.1094A>C (p.Gln365Pro) c.1949A>C (p.Gln650Pro) c.1763A>C (p.Gln588Pro) c.1682A>C (p.Gln561Pro) c.1388A>C (p.Gln463Pro) c.1769A>C (p.Gln590Pro) | gnomAD v4 |
2 | g.48687774G>A | CA346743168 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2023C>T (p.Gln675Ter) c.*335C>T (n.*335C>T) c.3441+16094G>A (n.3441+16094G>A) c.*767C>T (n.*767C>T) c.1942C>T (p.Gln648Ter) c.276+16094G>A (n.276+16094G>A) c.*220+6450C>T (n.*220+6450C>T) c.1066C>T (p.Gln356Ter) c.1093C>T (p.Gln365Ter) c.1948C>T (p.Gln650Ter) c.1762C>T (p.Gln588Ter) c.1681C>T (p.Gln561Ter) c.1387C>T (p.Gln463Ter) c.1768C>T (p.Gln590Ter) | gnomAD v4 |
2 | g.48687774G>C | CA346743169 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2023C>G (p.Gln675Glu) c.*335C>G (n.*335C>G) c.3441+16094G>C (n.3441+16094G>C) c.*767C>G (n.*767C>G) c.1942C>G (p.Gln648Glu) c.276+16094G>C (n.276+16094G>C) c.*220+6450C>G (n.*220+6450C>G) c.1066C>G (p.Gln356Glu) c.1093C>G (p.Gln365Glu) c.1948C>G (p.Gln650Glu) c.1762C>G (p.Gln588Glu) c.1681C>G (p.Gln561Glu) c.1387C>G (p.Gln463Glu) c.1768C>G (p.Gln590Glu) | |
2 | g.48687774G= | CA1248600833 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2023C= (p.Gln675=) c.*335C= (n.*335C=) c.3441+16094G= (n.3441+16094G=) c.*767C= (n.*767C=) c.1942C= (p.Gln648=) c.276+16094G= (n.276+16094G=) c.*220+6450C= (n.*220+6450C=) c.1066C= (p.Gln356=) c.1093C= (p.Gln365=) c.1948C= (p.Gln650=) c.1762C= (p.Gln588=) c.1681C= (p.Gln561=) c.1387C= (p.Gln463=) c.1768C= (p.Gln590=) | |
2 | g.48687774G>T | CA1652946 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2023C>A (p.Gln675Lys) c.*335C>A (n.*335C>A) c.3441+16094G>T (n.3441+16094G>T) c.*767C>A (n.*767C>A) c.1942C>A (p.Gln648Lys) c.276+16094G>T (n.276+16094G>T) c.*220+6450C>A (n.*220+6450C>A) c.1066C>A (p.Gln356Lys) c.1093C>A (p.Gln365Lys) c.1948C>A (p.Gln650Lys) c.1762C>A (p.Gln588Lys) c.1681C>A (p.Gln561Lys) c.1387C>A (p.Gln463Lys) c.1768C>A (p.Gln590Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687775A>C | CA426124993 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2022T>G (p.Ser674=) c.*334T>G (n.*334T>G) c.3441+16095A>C (n.3441+16095A>C) c.*766T>G (n.*766T>G) c.1941T>G (p.Ser647=) c.276+16095A>C (n.276+16095A>C) c.*220+6449T>G (n.*220+6449T>G) c.1065T>G (p.Ser355=) c.1092T>G (p.Ser364=) c.1947T>G (p.Ser649=) c.1761T>G (p.Ser587=) c.1680T>G (p.Ser560=) c.1386T>G (p.Ser462=) c.1767T>G (p.Ser589=) | |
2 | g.48687775A>G | CA426124991 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2022T>C (p.Ser674=) c.*334T>C (n.*334T>C) c.3441+16095A>G (n.3441+16095A>G) c.*766T>C (n.*766T>C) c.1941T>C (p.Ser647=) c.276+16095A>G (n.276+16095A>G) c.*220+6449T>C (n.*220+6449T>C) c.1065T>C (p.Ser355=) c.1092T>C (p.Ser364=) c.1947T>C (p.Ser649=) c.1761T>C (p.Ser587=) c.1680T>C (p.Ser560=) c.1386T>C (p.Ser462=) c.1767T>C (p.Ser589=) | gnomAD v4 |
2 | g.48687775A>T | CA426124992 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2022T>A (p.Ser674=) c.*334T>A (n.*334T>A) c.3441+16095A>T (n.3441+16095A>T) c.*766T>A (n.*766T>A) c.1941T>A (p.Ser647=) c.276+16095A>T (n.276+16095A>T) c.*220+6449T>A (n.*220+6449T>A) c.1065T>A (p.Ser355=) c.1092T>A (p.Ser364=) c.1947T>A (p.Ser649=) c.1761T>A (p.Ser587=) c.1680T>A (p.Ser560=) c.1386T>A (p.Ser462=) c.1767T>A (p.Ser589=) | |
2 | g.48687776G>A | CA346743181 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2021C>T (p.Ser674Phe) c.*333C>T (n.*333C>T) c.3441+16096G>A (n.3441+16096G>A) c.*765C>T (n.*765C>T) c.1940C>T (p.Ser647Phe) c.276+16096G>A (n.276+16096G>A) c.*220+6448C>T (n.*220+6448C>T) c.1064C>T (p.Ser355Phe) c.1091C>T (p.Ser364Phe) c.1946C>T (p.Ser649Phe) c.1760C>T (p.Ser587Phe) c.1679C>T (p.Ser560Phe) c.1385C>T (p.Ser462Phe) c.1766C>T (p.Ser589Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.48687776G>C | CA346743178 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2021C>G (p.Ser674Cys) c.*333C>G (n.*333C>G) c.3441+16096G>C (n.3441+16096G>C) c.*765C>G (n.*765C>G) c.1940C>G (p.Ser647Cys) c.276+16096G>C (n.276+16096G>C) c.*220+6448C>G (n.*220+6448C>G) c.1064C>G (p.Ser355Cys) c.1091C>G (p.Ser364Cys) c.1946C>G (p.Ser649Cys) c.1760C>G (p.Ser587Cys) c.1679C>G (p.Ser560Cys) c.1385C>G (p.Ser462Cys) c.1766C>G (p.Ser589Cys) | |
2 | g.48687776G= | CA1248600834 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2021C= (p.Ser674=) c.*333C= (n.*333C=) c.3441+16096G= (n.3441+16096G=) c.*765C= (n.*765C=) c.1940C= (p.Ser647=) c.276+16096G= (n.276+16096G=) c.*220+6448C= (n.*220+6448C=) c.1064C= (p.Ser355=) c.1091C= (p.Ser364=) c.1946C= (p.Ser649=) c.1760C= (p.Ser587=) c.1679C= (p.Ser560=) c.1385C= (p.Ser462=) c.1766C= (p.Ser589=) | |
2 | g.48687776G>T | CA346743179 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2021C>A (p.Ser674Tyr) c.*333C>A (n.*333C>A) c.3441+16096G>T (n.3441+16096G>T) c.*765C>A (n.*765C>A) c.1940C>A (p.Ser647Tyr) c.276+16096G>T (n.276+16096G>T) c.*220+6448C>A (n.*220+6448C>A) c.1064C>A (p.Ser355Tyr) c.1091C>A (p.Ser364Tyr) c.1946C>A (p.Ser649Tyr) c.1760C>A (p.Ser587Tyr) c.1679C>A (p.Ser560Tyr) c.1385C>A (p.Ser462Tyr) c.1766C>A (p.Ser589Tyr) | |
2 | g.48687777A>C | CA346743183 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2020T>G (p.Ser674Ala) c.*332T>G (n.*332T>G) c.3441+16097A>C (n.3441+16097A>C) c.*764T>G (n.*764T>G) c.1939T>G (p.Ser647Ala) c.276+16097A>C (n.276+16097A>C) c.*220+6447T>G (n.*220+6447T>G) c.1063T>G (p.Ser355Ala) c.1090T>G (p.Ser364Ala) c.1945T>G (p.Ser649Ala) c.1759T>G (p.Ser587Ala) c.1678T>G (p.Ser560Ala) c.1384T>G (p.Ser462Ala) c.1765T>G (p.Ser589Ala) | |
2 | g.48687777A>G | CA346743189 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2020T>C (p.Ser674Pro) c.*332T>C (n.*332T>C) c.3441+16097A>G (n.3441+16097A>G) c.*764T>C (n.*764T>C) c.1939T>C (p.Ser647Pro) c.276+16097A>G (n.276+16097A>G) c.*220+6447T>C (n.*220+6447T>C) c.1063T>C (p.Ser355Pro) c.1090T>C (p.Ser364Pro) c.1945T>C (p.Ser649Pro) c.1759T>C (p.Ser587Pro) c.1678T>C (p.Ser560Pro) c.1384T>C (p.Ser462Pro) c.1765T>C (p.Ser589Pro) | |
2 | g.48687777A>T | CA346743192 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2020T>A (p.Ser674Thr) c.*332T>A (n.*332T>A) c.3441+16097A>T (n.3441+16097A>T) c.*764T>A (n.*764T>A) c.1939T>A (p.Ser647Thr) c.276+16097A>T (n.276+16097A>T) c.*220+6447T>A (n.*220+6447T>A) c.1063T>A (p.Ser355Thr) c.1090T>A (p.Ser364Thr) c.1945T>A (p.Ser649Thr) c.1759T>A (p.Ser587Thr) c.1678T>A (p.Ser560Thr) c.1384T>A (p.Ser462Thr) c.1765T>A (p.Ser589Thr) | |
2 | g.48687778A>C | CA426125001 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2019T>G (p.Pro673=) c.*331T>G (n.*331T>G) c.3441+16098A>C (n.3441+16098A>C) c.*763T>G (n.*763T>G) c.1938T>G (p.Pro646=) c.276+16098A>C (n.276+16098A>C) c.*220+6446T>G (n.*220+6446T>G) c.1062T>G (p.Pro354=) c.1089T>G (p.Pro363=) c.1944T>G (p.Pro648=) c.1758T>G (p.Pro586=) c.1677T>G (p.Pro559=) c.1383T>G (p.Pro461=) c.1764T>G (p.Pro588=) | |
2 | g.48687778A>G | CA426124999 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2019T>C (p.Pro673=) c.*331T>C (n.*331T>C) c.3441+16098A>G (n.3441+16098A>G) c.*763T>C (n.*763T>C) c.1938T>C (p.Pro646=) c.276+16098A>G (n.276+16098A>G) c.*220+6446T>C (n.*220+6446T>C) c.1062T>C (p.Pro354=) c.1089T>C (p.Pro363=) c.1944T>C (p.Pro648=) c.1758T>C (p.Pro586=) c.1677T>C (p.Pro559=) c.1383T>C (p.Pro461=) c.1764T>C (p.Pro588=) | |
2 | g.48687778A>T | CA426124997 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2019T>A (p.Pro673=) c.*331T>A (n.*331T>A) c.3441+16098A>T (n.3441+16098A>T) c.*763T>A (n.*763T>A) c.1938T>A (p.Pro646=) c.276+16098A>T (n.276+16098A>T) c.*220+6446T>A (n.*220+6446T>A) c.1062T>A (p.Pro354=) c.1089T>A (p.Pro363=) c.1944T>A (p.Pro648=) c.1758T>A (p.Pro586=) c.1677T>A (p.Pro559=) c.1383T>A (p.Pro461=) c.1764T>A (p.Pro588=) | |
2 | g.48687779G>A | CA346743194 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2018C>T (p.Pro673Leu) c.*330C>T (n.*330C>T) c.3441+16099G>A (n.3441+16099G>A) c.*762C>T (n.*762C>T) c.1937C>T (p.Pro646Leu) c.276+16099G>A (n.276+16099G>A) c.*220+6445C>T (n.*220+6445C>T) c.1061C>T (p.Pro354Leu) c.1088C>T (p.Pro363Leu) c.1943C>T (p.Pro648Leu) c.1757C>T (p.Pro586Leu) c.1676C>T (p.Pro559Leu) c.1382C>T (p.Pro461Leu) c.1763C>T (p.Pro588Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687779G>C | CA346743197 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2018C>G (p.Pro673Arg) c.*330C>G (n.*330C>G) c.3441+16099G>C (n.3441+16099G>C) c.*762C>G (n.*762C>G) c.1937C>G (p.Pro646Arg) c.276+16099G>C (n.276+16099G>C) c.*220+6445C>G (n.*220+6445C>G) c.1061C>G (p.Pro354Arg) c.1088C>G (p.Pro363Arg) c.1943C>G (p.Pro648Arg) c.1757C>G (p.Pro586Arg) c.1676C>G (p.Pro559Arg) c.1382C>G (p.Pro461Arg) c.1763C>G (p.Pro588Arg) | |
2 | g.48687779G= | CA1248600835 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2018C= (p.Pro673=) c.*330C= (n.*330C=) c.3441+16099G= (n.3441+16099G=) c.*762C= (n.*762C=) c.1937C= (p.Pro646=) c.276+16099G= (n.276+16099G=) c.*220+6445C= (n.*220+6445C=) c.1061C= (p.Pro354=) c.1088C= (p.Pro363=) c.1943C= (p.Pro648=) c.1757C= (p.Pro586=) c.1676C= (p.Pro559=) c.1382C= (p.Pro461=) c.1763C= (p.Pro588=) | |
2 | g.48687779G>T | CA346743199 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2018C>A (p.Pro673His) c.*330C>A (n.*330C>A) c.3441+16099G>T (n.3441+16099G>T) c.*762C>A (n.*762C>A) c.1937C>A (p.Pro646His) c.276+16099G>T (n.276+16099G>T) c.*220+6445C>A (n.*220+6445C>A) c.1061C>A (p.Pro354His) c.1088C>A (p.Pro363His) c.1943C>A (p.Pro648His) c.1757C>A (p.Pro586His) c.1676C>A (p.Pro559His) c.1382C>A (p.Pro461His) c.1763C>A (p.Pro588His) | |
2 | g.48687780G>A | CA346743201 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2017C>T (p.Pro673Ser) c.*329C>T (n.*329C>T) c.3441+16100G>A (n.3441+16100G>A) c.*761C>T (n.*761C>T) c.1936C>T (p.Pro646Ser) c.276+16100G>A (n.276+16100G>A) c.*220+6444C>T (n.*220+6444C>T) c.1060C>T (p.Pro354Ser) c.1087C>T (p.Pro363Ser) c.1942C>T (p.Pro648Ser) c.1756C>T (p.Pro586Ser) c.1675C>T (p.Pro559Ser) c.1381C>T (p.Pro461Ser) c.1762C>T (p.Pro588Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687780G>C | CA346743203 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2017C>G (p.Pro673Ala) c.*329C>G (n.*329C>G) c.3441+16100G>C (n.3441+16100G>C) c.*761C>G (n.*761C>G) c.1936C>G (p.Pro646Ala) c.276+16100G>C (n.276+16100G>C) c.*220+6444C>G (n.*220+6444C>G) c.1060C>G (p.Pro354Ala) c.1087C>G (p.Pro363Ala) c.1942C>G (p.Pro648Ala) c.1756C>G (p.Pro586Ala) c.1675C>G (p.Pro559Ala) c.1381C>G (p.Pro461Ala) c.1762C>G (p.Pro588Ala) | |
2 | g.48687780G= | CA1248600836 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2017C= (p.Pro673=) c.*329C= (n.*329C=) c.3441+16100G= (n.3441+16100G=) c.*761C= (n.*761C=) c.1936C= (p.Pro646=) c.276+16100G= (n.276+16100G=) c.*220+6444C= (n.*220+6444C=) c.1060C= (p.Pro354=) c.1087C= (p.Pro363=) c.1942C= (p.Pro648=) c.1756C= (p.Pro586=) c.1675C= (p.Pro559=) c.1381C= (p.Pro461=) c.1762C= (p.Pro588=) | |
2 | g.48687780G>T | CA346743206 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2017C>A (p.Pro673Thr) c.*329C>A (n.*329C>A) c.3441+16100G>T (n.3441+16100G>T) c.*761C>A (n.*761C>A) c.1936C>A (p.Pro646Thr) c.276+16100G>T (n.276+16100G>T) c.*220+6444C>A (n.*220+6444C>A) c.1060C>A (p.Pro354Thr) c.1087C>A (p.Pro363Thr) c.1942C>A (p.Pro648Thr) c.1756C>A (p.Pro586Thr) c.1675C>A (p.Pro559Thr) c.1381C>A (p.Pro461Thr) c.1762C>A (p.Pro588Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687781C>A | CA346743216 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2016G>T (p.Lys672Asn) c.*328G>T (n.*328G>T) c.3441+16101C>A (n.3441+16101C>A) c.*760G>T (n.*760G>T) c.1935G>T (p.Lys645Asn) c.276+16101C>A (n.276+16101C>A) c.*220+6443G>T (n.*220+6443G>T) c.1059G>T (p.Lys353Asn) c.1086G>T (p.Lys362Asn) c.1941G>T (p.Lys647Asn) c.1755G>T (p.Lys585Asn) c.1674G>T (p.Lys558Asn) c.1380G>T (p.Lys460Asn) c.1761G>T (p.Lys587Asn) | |
2 | g.48687781C= | CA1248600837 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2016G= (p.Lys672=) c.*328G= (n.*328G=) c.3441+16101C= (n.3441+16101C=) c.*760G= (n.*760G=) c.1935G= (p.Lys645=) c.276+16101C= (n.276+16101C=) c.*220+6443G= (n.*220+6443G=) c.1059G= (p.Lys353=) c.1086G= (p.Lys362=) c.1941G= (p.Lys647=) c.1755G= (p.Lys585=) c.1674G= (p.Lys558=) c.1380G= (p.Lys460=) c.1761G= (p.Lys587=) | |
2 | g.48687781C>G | CA346743218 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2016G>C (p.Lys672Asn) c.*328G>C (n.*328G>C) c.3441+16101C>G (n.3441+16101C>G) c.*760G>C (n.*760G>C) c.1935G>C (p.Lys645Asn) c.276+16101C>G (n.276+16101C>G) c.*220+6443G>C (n.*220+6443G>C) c.1059G>C (p.Lys353Asn) c.1086G>C (p.Lys362Asn) c.1941G>C (p.Lys647Asn) c.1755G>C (p.Lys585Asn) c.1674G>C (p.Lys558Asn) c.1380G>C (p.Lys460Asn) c.1761G>C (p.Lys587Asn) | |
2 | g.48687781C>T | CA1652947 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2016G>A (p.Lys672=) c.*328G>A (n.*328G>A) c.3441+16101C>T (n.3441+16101C>T) c.*760G>A (n.*760G>A) c.1935G>A (p.Lys645=) c.276+16101C>T (n.276+16101C>T) c.*220+6443G>A (n.*220+6443G>A) c.1059G>A (p.Lys353=) c.1086G>A (p.Lys362=) c.1941G>A (p.Lys647=) c.1755G>A (p.Lys585=) c.1674G>A (p.Lys558=) c.1380G>A (p.Lys460=) c.1761G>A (p.Lys587=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687782T>A | CA346743230 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2015A>T (p.Lys672Met) c.*327A>T (n.*327A>T) c.3441+16102T>A (n.3441+16102T>A) c.*759A>T (n.*759A>T) c.1934A>T (p.Lys645Met) c.276+16102T>A (n.276+16102T>A) c.*220+6442A>T (n.*220+6442A>T) c.1058A>T (p.Lys353Met) c.1085A>T (p.Lys362Met) c.1940A>T (p.Lys647Met) c.1754A>T (p.Lys585Met) c.1673A>T (p.Lys558Met) c.1379A>T (p.Lys460Met) c.1760A>T (p.Lys587Met) | |
2 | g.48687782T>C | CA346743227 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2015A>G (p.Lys672Arg) c.*327A>G (n.*327A>G) c.3441+16102T>C (n.3441+16102T>C) c.*759A>G (n.*759A>G) c.1934A>G (p.Lys645Arg) c.276+16102T>C (n.276+16102T>C) c.*220+6442A>G (n.*220+6442A>G) c.1058A>G (p.Lys353Arg) c.1085A>G (p.Lys362Arg) c.1940A>G (p.Lys647Arg) c.1754A>G (p.Lys585Arg) c.1673A>G (p.Lys558Arg) c.1379A>G (p.Lys460Arg) c.1760A>G (p.Lys587Arg) | COSMIC |
2 | g.48687782T>G | CA346743225 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2015A>C (p.Lys672Thr) c.*327A>C (n.*327A>C) c.3441+16102T>G (n.3441+16102T>G) c.*759A>C (n.*759A>C) c.1934A>C (p.Lys645Thr) c.276+16102T>G (n.276+16102T>G) c.*220+6442A>C (n.*220+6442A>C) c.1058A>C (p.Lys353Thr) c.1085A>C (p.Lys362Thr) c.1940A>C (p.Lys647Thr) c.1754A>C (p.Lys585Thr) c.1673A>C (p.Lys558Thr) c.1379A>C (p.Lys460Thr) c.1760A>C (p.Lys587Thr) | dbSNP COSMIC |
2 | g.48687782T= | CA1248600838 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2015A= (p.Lys672=) c.*327A= (n.*327A=) c.3441+16102T= (n.3441+16102T=) c.*759A= (n.*759A=) c.1934A= (p.Lys645=) c.276+16102T= (n.276+16102T=) c.*220+6442A= (n.*220+6442A=) c.1058A= (p.Lys353=) c.1085A= (p.Lys362=) c.1940A= (p.Lys647=) c.1754A= (p.Lys585=) c.1673A= (p.Lys558=) c.1379A= (p.Lys460=) c.1760A= (p.Lys587=) | |
2 | g.48687783T>A | CA346743243 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2014A>T (p.Lys672Ter) c.*326A>T (n.*326A>T) c.3441+16103T>A (n.3441+16103T>A) c.*758A>T (n.*758A>T) c.1933A>T (p.Lys645Ter) c.276+16103T>A (n.276+16103T>A) c.*220+6441A>T (n.*220+6441A>T) c.1057A>T (p.Lys353Ter) c.1084A>T (p.Lys362Ter) c.1939A>T (p.Lys647Ter) c.1753A>T (p.Lys585Ter) c.1672A>T (p.Lys558Ter) c.1378A>T (p.Lys460Ter) c.1759A>T (p.Lys587Ter) | |
2 | g.48687783T>C | CA346743232 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2014A>G (p.Lys672Glu) c.*326A>G (n.*326A>G) c.3441+16103T>C (n.3441+16103T>C) c.*758A>G (n.*758A>G) c.1933A>G (p.Lys645Glu) c.276+16103T>C (n.276+16103T>C) c.*220+6441A>G (n.*220+6441A>G) c.1057A>G (p.Lys353Glu) c.1084A>G (p.Lys362Glu) c.1939A>G (p.Lys647Glu) c.1753A>G (p.Lys585Glu) c.1672A>G (p.Lys558Glu) c.1378A>G (p.Lys460Glu) c.1759A>G (p.Lys587Glu) | COSMIC |
2 | g.48687783T>G | CA346743235 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2014A>C (p.Lys672Gln) c.*326A>C (n.*326A>C) c.3441+16103T>G (n.3441+16103T>G) c.*758A>C (n.*758A>C) c.1933A>C (p.Lys645Gln) c.276+16103T>G (n.276+16103T>G) c.*220+6441A>C (n.*220+6441A>C) c.1057A>C (p.Lys353Gln) c.1084A>C (p.Lys362Gln) c.1939A>C (p.Lys647Gln) c.1753A>C (p.Lys585Gln) c.1672A>C (p.Lys558Gln) c.1378A>C (p.Lys460Gln) c.1759A>C (p.Lys587Gln) | |
2 | g.48687784A= | CA1248600839 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2013T= (p.Asn671=) c.*325T= (n.*325T=) c.3441+16104A= (n.3441+16104A=) c.*757T= (n.*757T=) c.1932T= (p.Asn644=) c.276+16104A= (n.276+16104A=) c.*220+6440T= (n.*220+6440T=) c.1056T= (p.Asn352=) c.1083T= (p.Asn361=) c.1938T= (p.Asn646=) c.1752T= (p.Asn584=) c.1671T= (p.Asn557=) c.1377T= (p.Asn459=) c.1758T= (p.Asn586=) | |
2 | g.48687784A>C | CA346743244 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2013T>G (p.Asn671Lys) c.*325T>G (n.*325T>G) c.3441+16104A>C (n.3441+16104A>C) c.*757T>G (n.*757T>G) c.1932T>G (p.Asn644Lys) c.276+16104A>C (n.276+16104A>C) c.*220+6440T>G (n.*220+6440T>G) c.1056T>G (p.Asn352Lys) c.1083T>G (p.Asn361Lys) c.1938T>G (p.Asn646Lys) c.1752T>G (p.Asn584Lys) c.1671T>G (p.Asn557Lys) c.1377T>G (p.Asn459Lys) c.1758T>G (p.Asn586Lys) | |
2 | g.48687784A>G | CA426125011 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2013T>C (p.Asn671=) c.*325T>C (n.*325T>C) c.3441+16104A>G (n.3441+16104A>G) c.*757T>C (n.*757T>C) c.1932T>C (p.Asn644=) c.276+16104A>G (n.276+16104A>G) c.*220+6440T>C (n.*220+6440T>C) c.1056T>C (p.Asn352=) c.1083T>C (p.Asn361=) c.1938T>C (p.Asn646=) c.1752T>C (p.Asn584=) c.1671T>C (p.Asn557=) c.1377T>C (p.Asn459=) c.1758T>C (p.Asn586=) | |
2 | g.48687784A>T | CA346743245 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2013T>A (p.Asn671Lys) c.*325T>A (n.*325T>A) c.3441+16104A>T (n.3441+16104A>T) c.*757T>A (n.*757T>A) c.1932T>A (p.Asn644Lys) c.276+16104A>T (n.276+16104A>T) c.*220+6440T>A (n.*220+6440T>A) c.1056T>A (p.Asn352Lys) c.1083T>A (p.Asn361Lys) c.1938T>A (p.Asn646Lys) c.1752T>A (p.Asn584Lys) c.1671T>A (p.Asn557Lys) c.1377T>A (p.Asn459Lys) c.1758T>A (p.Asn586Lys) | dbSNP gnomAD v4 |
2 | g.48687785T>A | CA346743247 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2012A>T (p.Asn671Ile) c.*324A>T (n.*324A>T) c.3441+16105T>A (n.3441+16105T>A) c.*756A>T (n.*756A>T) c.1931A>T (p.Asn644Ile) c.276+16105T>A (n.276+16105T>A) c.*220+6439A>T (n.*220+6439A>T) c.1055A>T (p.Asn352Ile) c.1082A>T (p.Asn361Ile) c.1937A>T (p.Asn646Ile) c.1751A>T (p.Asn584Ile) c.1670A>T (p.Asn557Ile) c.1376A>T (p.Asn459Ile) c.1757A>T (p.Asn586Ile) | |
2 | g.48687785T>C | CA346743250 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2012A>G (p.Asn671Ser) c.*324A>G (n.*324A>G) c.3441+16105T>C (n.3441+16105T>C) c.*756A>G (n.*756A>G) c.1931A>G (p.Asn644Ser) c.276+16105T>C (n.276+16105T>C) c.*220+6439A>G (n.*220+6439A>G) c.1055A>G (p.Asn352Ser) c.1082A>G (p.Asn361Ser) c.1937A>G (p.Asn646Ser) c.1751A>G (p.Asn584Ser) c.1670A>G (p.Asn557Ser) c.1376A>G (p.Asn459Ser) c.1757A>G (p.Asn586Ser) | dbSNP gnomAD v4 |
2 | g.48687785T>G | CA1652948 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2012A>C (p.Asn671Thr) c.*324A>C (n.*324A>C) c.3441+16105T>G (n.3441+16105T>G) c.*756A>C (n.*756A>C) c.1931A>C (p.Asn644Thr) c.276+16105T>G (n.276+16105T>G) c.*220+6439A>C (n.*220+6439A>C) c.1055A>C (p.Asn352Thr) c.1082A>C (p.Asn361Thr) c.1937A>C (p.Asn646Thr) c.1751A>C (p.Asn584Thr) c.1670A>C (p.Asn557Thr) c.1376A>C (p.Asn459Thr) c.1757A>C (p.Asn586Thr) | dbSNP ExAC gnomAD v2 |
2 | g.48687785T= | CA1248600840 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2012A= (p.Asn671=) c.*324A= (n.*324A=) c.3441+16105T= (n.3441+16105T=) c.*756A= (n.*756A=) c.1931A= (p.Asn644=) c.276+16105T= (n.276+16105T=) c.*220+6439A= (n.*220+6439A=) c.1055A= (p.Asn352=) c.1082A= (p.Asn361=) c.1937A= (p.Asn646=) c.1751A= (p.Asn584=) c.1670A= (p.Asn557=) c.1376A= (p.Asn459=) c.1757A= (p.Asn586=) | |
2 | g.48687786T>A | CA346743252 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2011A>T (p.Asn671Tyr) c.*323A>T (n.*323A>T) c.3441+16106T>A (n.3441+16106T>A) c.*755A>T (n.*755A>T) c.1930A>T (p.Asn644Tyr) c.276+16106T>A (n.276+16106T>A) c.*220+6438A>T (n.*220+6438A>T) c.1054A>T (p.Asn352Tyr) c.1081A>T (p.Asn361Tyr) c.1936A>T (p.Asn646Tyr) c.1750A>T (p.Asn584Tyr) c.1669A>T (p.Asn557Tyr) c.1375A>T (p.Asn459Tyr) c.1756A>T (p.Asn586Tyr) | |
2 | g.48687786T>C | CA1652949 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2011A>G (p.Asn671Asp) c.*323A>G (n.*323A>G) c.3441+16106T>C (n.3441+16106T>C) c.*755A>G (n.*755A>G) c.1930A>G (p.Asn644Asp) c.276+16106T>C (n.276+16106T>C) c.*220+6438A>G (n.*220+6438A>G) c.1054A>G (p.Asn352Asp) c.1081A>G (p.Asn361Asp) c.1936A>G (p.Asn646Asp) c.1750A>G (p.Asn584Asp) c.1669A>G (p.Asn557Asp) c.1375A>G (p.Asn459Asp) c.1756A>G (p.Asn586Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687786T>G | CA346743253 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2011A>C (p.Asn671His) c.*323A>C (n.*323A>C) c.3441+16106T>G (n.3441+16106T>G) c.*755A>C (n.*755A>C) c.1930A>C (p.Asn644His) c.276+16106T>G (n.276+16106T>G) c.*220+6438A>C (n.*220+6438A>C) c.1054A>C (p.Asn352His) c.1081A>C (p.Asn361His) c.1936A>C (p.Asn646His) c.1750A>C (p.Asn584His) c.1669A>C (p.Asn557His) c.1375A>C (p.Asn459His) c.1756A>C (p.Asn586His) | |
2 | g.48687786T= | CA1248600841 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2011A= (p.Asn671=) c.*323A= (n.*323A=) c.3441+16106T= (n.3441+16106T=) c.*755A= (n.*755A=) c.1930A= (p.Asn644=) c.276+16106T= (n.276+16106T=) c.*220+6438A= (n.*220+6438A=) c.1054A= (p.Asn352=) c.1081A= (p.Asn361=) c.1936A= (p.Asn646=) c.1750A= (p.Asn584=) c.1669A= (p.Asn557=) c.1375A= (p.Asn459=) c.1756A= (p.Asn586=) | |
2 | g.48687787T>A | CA426125022 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2010A>T (p.Ser670=) c.*322A>T (n.*322A>T) c.3441+16107T>A (n.3441+16107T>A) c.*754A>T (n.*754A>T) c.1929A>T (p.Ser643=) c.276+16107T>A (n.276+16107T>A) c.*220+6437A>T (n.*220+6437A>T) c.1053A>T (p.Ser351=) c.1080A>T (p.Ser360=) c.1935A>T (p.Ser645=) c.1749A>T (p.Ser583=) c.1668A>T (p.Ser556=) c.1374A>T (p.Ser458=) c.1755A>T (p.Ser585=) | |
2 | g.48687787T>C | CA426125023 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2010A>G (p.Ser670=) c.*322A>G (n.*322A>G) c.3441+16107T>C (n.3441+16107T>C) c.*754A>G (n.*754A>G) c.1929A>G (p.Ser643=) c.276+16107T>C (n.276+16107T>C) c.*220+6437A>G (n.*220+6437A>G) c.1053A>G (p.Ser351=) c.1080A>G (p.Ser360=) c.1935A>G (p.Ser645=) c.1749A>G (p.Ser583=) c.1668A>G (p.Ser556=) c.1374A>G (p.Ser458=) c.1755A>G (p.Ser585=) | gnomAD v4 |
2 | g.48687787T>G | CA426125024 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2010A>C (p.Ser670=) c.*322A>C (n.*322A>C) c.3441+16107T>G (n.3441+16107T>G) c.*754A>C (n.*754A>C) c.1929A>C (p.Ser643=) c.276+16107T>G (n.276+16107T>G) c.*220+6437A>C (n.*220+6437A>C) c.1053A>C (p.Ser351=) c.1080A>C (p.Ser360=) c.1935A>C (p.Ser645=) c.1749A>C (p.Ser583=) c.1668A>C (p.Ser556=) c.1374A>C (p.Ser458=) c.1755A>C (p.Ser585=) | |
2 | g.48687788G>A | CA346743254 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2009C>T (p.Ser670Leu) c.*321C>T (n.*321C>T) c.3441+16108G>A (n.3441+16108G>A) c.*753C>T (n.*753C>T) c.1928C>T (p.Ser643Leu) c.276+16108G>A (n.276+16108G>A) c.*220+6436C>T (n.*220+6436C>T) c.1052C>T (p.Ser351Leu) c.1079C>T (p.Ser360Leu) c.1934C>T (p.Ser645Leu) c.1748C>T (p.Ser583Leu) c.1667C>T (p.Ser556Leu) c.1373C>T (p.Ser458Leu) c.1754C>T (p.Ser585Leu) | |
2 | g.48687788G>C | CA346743256 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2009C>G (p.Ser670Ter) c.*321C>G (n.*321C>G) c.3441+16108G>C (n.3441+16108G>C) c.*753C>G (n.*753C>G) c.1928C>G (p.Ser643Ter) c.276+16108G>C (n.276+16108G>C) c.*220+6436C>G (n.*220+6436C>G) c.1052C>G (p.Ser351Ter) c.1079C>G (p.Ser360Ter) c.1934C>G (p.Ser645Ter) c.1748C>G (p.Ser583Ter) c.1667C>G (p.Ser556Ter) c.1373C>G (p.Ser458Ter) c.1754C>G (p.Ser585Ter) | |
2 | g.48687788G>T | CA346743258 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2009C>A (p.Ser670Ter) c.*321C>A (n.*321C>A) c.3441+16108G>T (n.3441+16108G>T) c.*753C>A (n.*753C>A) c.1928C>A (p.Ser643Ter) c.276+16108G>T (n.276+16108G>T) c.*220+6436C>A (n.*220+6436C>A) c.1052C>A (p.Ser351Ter) c.1079C>A (p.Ser360Ter) c.1934C>A (p.Ser645Ter) c.1748C>A (p.Ser583Ter) c.1667C>A (p.Ser556Ter) c.1373C>A (p.Ser458Ter) c.1754C>A (p.Ser585Ter) | |
2 | g.48687789A>C | CA346743265 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2008T>G (p.Ser670Ala) c.*320T>G (n.*320T>G) c.3441+16109A>C (n.3441+16109A>C) c.*752T>G (n.*752T>G) c.1927T>G (p.Ser643Ala) c.276+16109A>C (n.276+16109A>C) c.*220+6435T>G (n.*220+6435T>G) c.1051T>G (p.Ser351Ala) c.1078T>G (p.Ser360Ala) c.1933T>G (p.Ser645Ala) c.1747T>G (p.Ser583Ala) c.1666T>G (p.Ser556Ala) c.1372T>G (p.Ser458Ala) c.1753T>G (p.Ser585Ala) | |
2 | g.48687789A>G | CA346743264 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2008T>C (p.Ser670Pro) c.*320T>C (n.*320T>C) c.3441+16109A>G (n.3441+16109A>G) c.*752T>C (n.*752T>C) c.1927T>C (p.Ser643Pro) c.276+16109A>G (n.276+16109A>G) c.*220+6435T>C (n.*220+6435T>C) c.1051T>C (p.Ser351Pro) c.1078T>C (p.Ser360Pro) c.1933T>C (p.Ser645Pro) c.1747T>C (p.Ser583Pro) c.1666T>C (p.Ser556Pro) c.1372T>C (p.Ser458Pro) c.1753T>C (p.Ser585Pro) | gnomAD v4 |
2 | g.48687789A>T | CA346743260 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2008T>A (p.Ser670Thr) c.*320T>A (n.*320T>A) c.3441+16109A>T (n.3441+16109A>T) c.*752T>A (n.*752T>A) c.1927T>A (p.Ser643Thr) c.276+16109A>T (n.276+16109A>T) c.*220+6435T>A (n.*220+6435T>A) c.1051T>A (p.Ser351Thr) c.1078T>A (p.Ser360Thr) c.1933T>A (p.Ser645Thr) c.1747T>A (p.Ser583Thr) c.1666T>A (p.Ser556Thr) c.1372T>A (p.Ser458Thr) c.1753T>A (p.Ser585Thr) | |
2 | g.48687790T>A | CA426125032 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2007A>T (p.Gly669=) c.*319A>T (n.*319A>T) c.3441+16110T>A (n.3441+16110T>A) c.*751A>T (n.*751A>T) c.1926A>T (p.Gly642=) c.276+16110T>A (n.276+16110T>A) c.*220+6434A>T (n.*220+6434A>T) c.1050A>T (p.Gly350=) c.1077A>T (p.Gly359=) c.1932A>T (p.Gly644=) c.1746A>T (p.Gly582=) c.1665A>T (p.Gly555=) c.1371A>T (p.Gly457=) c.1752A>T (p.Gly584=) | |
2 | g.48687790T>C | CA426125033 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2007A>G (p.Gly669=) c.*319A>G (n.*319A>G) c.3441+16110T>C (n.3441+16110T>C) c.*751A>G (n.*751A>G) c.1926A>G (p.Gly642=) c.276+16110T>C (n.276+16110T>C) c.*220+6434A>G (n.*220+6434A>G) c.1050A>G (p.Gly350=) c.1077A>G (p.Gly359=) c.1932A>G (p.Gly644=) c.1746A>G (p.Gly582=) c.1665A>G (p.Gly555=) c.1371A>G (p.Gly457=) c.1752A>G (p.Gly584=) | |
2 | g.48687790T>G | CA426125030 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2007A>C (p.Gly669=) c.*319A>C (n.*319A>C) c.3441+16110T>G (n.3441+16110T>G) c.*751A>C (n.*751A>C) c.1926A>C (p.Gly642=) c.276+16110T>G (n.276+16110T>G) c.*220+6434A>C (n.*220+6434A>C) c.1050A>C (p.Gly350=) c.1077A>C (p.Gly359=) c.1932A>C (p.Gly644=) c.1746A>C (p.Gly582=) c.1665A>C (p.Gly555=) c.1371A>C (p.Gly457=) c.1752A>C (p.Gly584=) | |
2 | g.48687791C>A | CA346743266 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2006G>T (p.Gly669Val) c.*318G>T (n.*318G>T) c.3441+16111C>A (n.3441+16111C>A) c.*750G>T (n.*750G>T) c.1925G>T (p.Gly642Val) c.276+16111C>A (n.276+16111C>A) c.*220+6433G>T (n.*220+6433G>T) c.1049G>T (p.Gly350Val) c.1076G>T (p.Gly359Val) c.1931G>T (p.Gly644Val) c.1745G>T (p.Gly582Val) c.1664G>T (p.Gly555Val) c.1370G>T (p.Gly457Val) c.1751G>T (p.Gly584Val) | gnomAD v4 |
2 | g.48687791C>G | CA346743267 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2006G>C (p.Gly669Ala) c.*318G>C (n.*318G>C) c.3441+16111C>G (n.3441+16111C>G) c.*750G>C (n.*750G>C) c.1925G>C (p.Gly642Ala) c.276+16111C>G (n.276+16111C>G) c.*220+6433G>C (n.*220+6433G>C) c.1049G>C (p.Gly350Ala) c.1076G>C (p.Gly359Ala) c.1931G>C (p.Gly644Ala) c.1745G>C (p.Gly582Ala) c.1664G>C (p.Gly555Ala) c.1370G>C (p.Gly457Ala) c.1751G>C (p.Gly584Ala) | gnomAD v4 |
2 | g.48687791C>T | CA346743268 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2006G>A (p.Gly669Glu) c.*318G>A (n.*318G>A) c.3441+16111C>T (n.3441+16111C>T) c.*750G>A (n.*750G>A) c.1925G>A (p.Gly642Glu) c.276+16111C>T (n.276+16111C>T) c.*220+6433G>A (n.*220+6433G>A) c.1049G>A (p.Gly350Glu) c.1076G>A (p.Gly359Glu) c.1931G>A (p.Gly644Glu) c.1745G>A (p.Gly582Glu) c.1664G>A (p.Gly555Glu) c.1370G>A (p.Gly457Glu) c.1751G>A (p.Gly584Glu) | gnomAD v4 |
2 | g.48687792C>A | CA346743269 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2005G>T (p.Gly669Ter) c.*317G>T (n.*317G>T) c.3441+16112C>A (n.3441+16112C>A) c.*749G>T (n.*749G>T) c.1924G>T (p.Gly642Ter) c.276+16112C>A (n.276+16112C>A) c.*220+6432G>T (n.*220+6432G>T) c.1048G>T (p.Gly350Ter) c.1075G>T (p.Gly359Ter) c.1930G>T (p.Gly644Ter) c.1744G>T (p.Gly582Ter) c.1663G>T (p.Gly555Ter) c.1369G>T (p.Gly457Ter) c.1750G>T (p.Gly584Ter) | |
2 | g.48687792C= | CA1248600842 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2005G= (p.Gly669=) c.*317G= (n.*317G=) c.3441+16112C= (n.3441+16112C=) c.*749G= (n.*749G=) c.1924G= (p.Gly642=) c.276+16112C= (n.276+16112C=) c.*220+6432G= (n.*220+6432G=) c.1048G= (p.Gly350=) c.1075G= (p.Gly359=) c.1930G= (p.Gly644=) c.1744G= (p.Gly582=) c.1663G= (p.Gly555=) c.1369G= (p.Gly457=) c.1750G= (p.Gly584=) | |
2 | g.48687792C>G | CA346743270 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2005G>C (p.Gly669Arg) c.*317G>C (n.*317G>C) c.3441+16112C>G (n.3441+16112C>G) c.*749G>C (n.*749G>C) c.1924G>C (p.Gly642Arg) c.276+16112C>G (n.276+16112C>G) c.*220+6432G>C (n.*220+6432G>C) c.1048G>C (p.Gly350Arg) c.1075G>C (p.Gly359Arg) c.1930G>C (p.Gly644Arg) c.1744G>C (p.Gly582Arg) c.1663G>C (p.Gly555Arg) c.1369G>C (p.Gly457Arg) c.1750G>C (p.Gly584Arg) | |
2 | g.48687792C>T | CA346743272 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2005G>A (p.Gly669Arg) c.*317G>A (n.*317G>A) c.3441+16112C>T (n.3441+16112C>T) c.*749G>A (n.*749G>A) c.1924G>A (p.Gly642Arg) c.276+16112C>T (n.276+16112C>T) c.*220+6432G>A (n.*220+6432G>A) c.1048G>A (p.Gly350Arg) c.1075G>A (p.Gly359Arg) c.1930G>A (p.Gly644Arg) c.1744G>A (p.Gly582Arg) c.1663G>A (p.Gly555Arg) c.1369G>A (p.Gly457Arg) c.1750G>A (p.Gly584Arg) | dbSNP |
2 | g.48687793A>C | CA426125042 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2004T>G (p.Thr668=) c.*316T>G (n.*316T>G) c.3441+16113A>C (n.3441+16113A>C) c.*748T>G (n.*748T>G) c.1923T>G (p.Thr641=) c.276+16113A>C (n.276+16113A>C) c.*220+6431T>G (n.*220+6431T>G) c.1047T>G (p.Thr349=) c.1074T>G (p.Thr358=) c.1929T>G (p.Thr643=) c.1743T>G (p.Thr581=) c.1662T>G (p.Thr554=) c.1368T>G (p.Thr456=) c.1749T>G (p.Thr583=) | |
2 | g.48687793A>G | CA426125043 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2004T>C (p.Thr668=) c.*316T>C (n.*316T>C) c.3441+16113A>G (n.3441+16113A>G) c.*748T>C (n.*748T>C) c.1923T>C (p.Thr641=) c.276+16113A>G (n.276+16113A>G) c.*220+6431T>C (n.*220+6431T>C) c.1047T>C (p.Thr349=) c.1074T>C (p.Thr358=) c.1929T>C (p.Thr643=) c.1743T>C (p.Thr581=) c.1662T>C (p.Thr554=) c.1368T>C (p.Thr456=) c.1749T>C (p.Thr583=) | gnomAD v4 |
2 | g.48687793A>T | CA426125045 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2004T>A (p.Thr668=) c.*316T>A (n.*316T>A) c.3441+16113A>T (n.3441+16113A>T) c.*748T>A (n.*748T>A) c.1923T>A (p.Thr641=) c.276+16113A>T (n.276+16113A>T) c.*220+6431T>A (n.*220+6431T>A) c.1047T>A (p.Thr349=) c.1074T>A (p.Thr358=) c.1929T>A (p.Thr643=) c.1743T>A (p.Thr581=) c.1662T>A (p.Thr554=) c.1368T>A (p.Thr456=) c.1749T>A (p.Thr583=) | |
2 | g.48687794G>A | CA346743274 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2003C>T (p.Thr668Ile) c.*315C>T (n.*315C>T) c.3441+16114G>A (n.3441+16114G>A) c.*747C>T (n.*747C>T) c.1922C>T (p.Thr641Ile) c.276+16114G>A (n.276+16114G>A) c.*220+6430C>T (n.*220+6430C>T) c.1046C>T (p.Thr349Ile) c.1073C>T (p.Thr358Ile) c.1928C>T (p.Thr643Ile) c.1742C>T (p.Thr581Ile) c.1661C>T (p.Thr554Ile) c.1367C>T (p.Thr456Ile) c.1748C>T (p.Thr583Ile) | gnomAD v4 |
2 | g.48687794G>C | CA346743277 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2003C>G (p.Thr668Ser) c.*315C>G (n.*315C>G) c.3441+16114G>C (n.3441+16114G>C) c.*747C>G (n.*747C>G) c.1922C>G (p.Thr641Ser) c.276+16114G>C (n.276+16114G>C) c.*220+6430C>G (n.*220+6430C>G) c.1046C>G (p.Thr349Ser) c.1073C>G (p.Thr358Ser) c.1928C>G (p.Thr643Ser) c.1742C>G (p.Thr581Ser) c.1661C>G (p.Thr554Ser) c.1367C>G (p.Thr456Ser) c.1748C>G (p.Thr583Ser) | |
2 | g.48687794G>T | CA346743281 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2003C>A (p.Thr668Asn) c.*315C>A (n.*315C>A) c.3441+16114G>T (n.3441+16114G>T) c.*747C>A (n.*747C>A) c.1922C>A (p.Thr641Asn) c.276+16114G>T (n.276+16114G>T) c.*220+6430C>A (n.*220+6430C>A) c.1046C>A (p.Thr349Asn) c.1073C>A (p.Thr358Asn) c.1928C>A (p.Thr643Asn) c.1742C>A (p.Thr581Asn) c.1661C>A (p.Thr554Asn) c.1367C>A (p.Thr456Asn) c.1748C>A (p.Thr583Asn) | |
2 | g.48687795T>A | CA346743287 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2002A>T (p.Thr668Ser) c.*314A>T (n.*314A>T) c.3441+16115T>A (n.3441+16115T>A) c.*746A>T (n.*746A>T) c.1921A>T (p.Thr641Ser) c.276+16115T>A (n.276+16115T>A) c.*220+6429A>T (n.*220+6429A>T) c.1045A>T (p.Thr349Ser) c.1072A>T (p.Thr358Ser) c.1927A>T (p.Thr643Ser) c.1741A>T (p.Thr581Ser) c.1660A>T (p.Thr554Ser) c.1366A>T (p.Thr456Ser) c.1747A>T (p.Thr583Ser) | |
2 | g.48687795T>C | CA346743289 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2002A>G (p.Thr668Ala) c.*314A>G (n.*314A>G) c.3441+16115T>C (n.3441+16115T>C) c.*746A>G (n.*746A>G) c.1921A>G (p.Thr641Ala) c.276+16115T>C (n.276+16115T>C) c.*220+6429A>G (n.*220+6429A>G) c.1045A>G (p.Thr349Ala) c.1072A>G (p.Thr358Ala) c.1927A>G (p.Thr643Ala) c.1741A>G (p.Thr581Ala) c.1660A>G (p.Thr554Ala) c.1366A>G (p.Thr456Ala) c.1747A>G (p.Thr583Ala) | gnomAD v4 |
2 | g.48687795T>G | CA1652950 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2002A>C (p.Thr668Pro) c.*314A>C (n.*314A>C) c.3441+16115T>G (n.3441+16115T>G) c.*746A>C (n.*746A>C) c.1921A>C (p.Thr641Pro) c.276+16115T>G (n.276+16115T>G) c.*220+6429A>C (n.*220+6429A>C) c.1045A>C (p.Thr349Pro) c.1072A>C (p.Thr358Pro) c.1927A>C (p.Thr643Pro) c.1741A>C (p.Thr581Pro) c.1660A>C (p.Thr554Pro) c.1366A>C (p.Thr456Pro) c.1747A>C (p.Thr583Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687795T= | CA1248600843 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2002A= (p.Thr668=) c.*314A= (n.*314A=) c.3441+16115T= (n.3441+16115T=) c.*746A= (n.*746A=) c.1921A= (p.Thr641=) c.276+16115T= (n.276+16115T=) c.*220+6429A= (n.*220+6429A=) c.1045A= (p.Thr349=) c.1072A= (p.Thr358=) c.1927A= (p.Thr643=) c.1741A= (p.Thr581=) c.1660A= (p.Thr554=) c.1366A= (p.Thr456=) c.1747A= (p.Thr583=) | |
2 | g.48687796G>A | CA426125049 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2001C>T (p.Phe667=) c.*313C>T (n.*313C>T) c.3441+16116G>A (n.3441+16116G>A) c.*745C>T (n.*745C>T) c.1920C>T (p.Phe640=) c.276+16116G>A (n.276+16116G>A) c.*220+6428C>T (n.*220+6428C>T) c.1044C>T (p.Phe348=) c.1071C>T (p.Phe357=) c.1926C>T (p.Phe642=) c.1740C>T (p.Phe580=) c.1659C>T (p.Phe553=) c.1365C>T (p.Phe455=) c.1746C>T (p.Phe582=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687796G>C | CA346743296 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2001C>G (p.Phe667Leu) c.*313C>G (n.*313C>G) c.3441+16116G>C (n.3441+16116G>C) c.*745C>G (n.*745C>G) c.1920C>G (p.Phe640Leu) c.276+16116G>C (n.276+16116G>C) c.*220+6428C>G (n.*220+6428C>G) c.1044C>G (p.Phe348Leu) c.1071C>G (p.Phe357Leu) c.1926C>G (p.Phe642Leu) c.1740C>G (p.Phe580Leu) c.1659C>G (p.Phe553Leu) c.1365C>G (p.Phe455Leu) c.1746C>G (p.Phe582Leu) | |
2 | g.48687796G= | CA1248600844 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2001C= (p.Phe667=) c.*313C= (n.*313C=) c.3441+16116G= (n.3441+16116G=) c.*745C= (n.*745C=) c.1920C= (p.Phe640=) c.276+16116G= (n.276+16116G=) c.*220+6428C= (n.*220+6428C=) c.1044C= (p.Phe348=) c.1071C= (p.Phe357=) c.1926C= (p.Phe642=) c.1740C= (p.Phe580=) c.1659C= (p.Phe553=) c.1365C= (p.Phe455=) c.1746C= (p.Phe582=) | |
2 | g.48687796G>T | CA346743299 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2001C>A (p.Phe667Leu) c.*313C>A (n.*313C>A) c.3441+16116G>T (n.3441+16116G>T) c.*745C>A (n.*745C>A) c.1920C>A (p.Phe640Leu) c.276+16116G>T (n.276+16116G>T) c.*220+6428C>A (n.*220+6428C>A) c.1044C>A (p.Phe348Leu) c.1071C>A (p.Phe357Leu) c.1926C>A (p.Phe642Leu) c.1740C>A (p.Phe580Leu) c.1659C>A (p.Phe553Leu) c.1365C>A (p.Phe455Leu) c.1746C>A (p.Phe582Leu) | |
2 | g.48687797A>C | CA346743302 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2000T>G (p.Phe667Cys) c.*312T>G (n.*312T>G) c.3441+16117A>C (n.3441+16117A>C) c.*744T>G (n.*744T>G) c.1919T>G (p.Phe640Cys) c.276+16117A>C (n.276+16117A>C) c.*220+6427T>G (n.*220+6427T>G) c.1043T>G (p.Phe348Cys) c.1070T>G (p.Phe357Cys) c.1925T>G (p.Phe642Cys) c.1739T>G (p.Phe580Cys) c.1658T>G (p.Phe553Cys) c.1364T>G (p.Phe455Cys) c.1745T>G (p.Phe582Cys) | |
2 | g.48687797A>G | CA346743303 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2000T>C (p.Phe667Ser) c.*312T>C (n.*312T>C) c.3441+16117A>G (n.3441+16117A>G) c.*744T>C (n.*744T>C) c.1919T>C (p.Phe640Ser) c.276+16117A>G (n.276+16117A>G) c.*220+6427T>C (n.*220+6427T>C) c.1043T>C (p.Phe348Ser) c.1070T>C (p.Phe357Ser) c.1925T>C (p.Phe642Ser) c.1739T>C (p.Phe580Ser) c.1658T>C (p.Phe553Ser) c.1364T>C (p.Phe455Ser) c.1745T>C (p.Phe582Ser) | |
2 | g.48687797A>T | CA346743300 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2000T>A (p.Phe667Tyr) c.*312T>A (n.*312T>A) c.3441+16117A>T (n.3441+16117A>T) c.*744T>A (n.*744T>A) c.1919T>A (p.Phe640Tyr) c.276+16117A>T (n.276+16117A>T) c.*220+6427T>A (n.*220+6427T>A) c.1043T>A (p.Phe348Tyr) c.1070T>A (p.Phe357Tyr) c.1925T>A (p.Phe642Tyr) c.1739T>A (p.Phe580Tyr) c.1658T>A (p.Phe553Tyr) c.1364T>A (p.Phe455Tyr) c.1745T>A (p.Phe582Tyr) | |
2 | g.48687798A= | CA1248600845 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1999T= (p.Phe667=) c.*311T= (n.*311T=) c.3441+16118A= (n.3441+16118A=) c.*743T= (n.*743T=) c.1918T= (p.Phe640=) c.276+16118A= (n.276+16118A=) c.*220+6426T= (n.*220+6426T=) c.1042T= (p.Phe348=) c.1069T= (p.Phe357=) c.1924T= (p.Phe642=) c.1738T= (p.Phe580=) c.1657T= (p.Phe553=) c.1363T= (p.Phe455=) c.1744T= (p.Phe582=) | |
2 | g.48687798A>C | CA346743305 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1999T>G (p.Phe667Val) c.*311T>G (n.*311T>G) c.3441+16118A>C (n.3441+16118A>C) c.*743T>G (n.*743T>G) c.1918T>G (p.Phe640Val) c.276+16118A>C (n.276+16118A>C) c.*220+6426T>G (n.*220+6426T>G) c.1042T>G (p.Phe348Val) c.1069T>G (p.Phe357Val) c.1924T>G (p.Phe642Val) c.1738T>G (p.Phe580Val) c.1657T>G (p.Phe553Val) c.1363T>G (p.Phe455Val) c.1744T>G (p.Phe582Val) | |
2 | g.48687798A>G | CA1652951 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1999T>C (p.Phe667Leu) c.*311T>C (n.*311T>C) c.3441+16118A>G (n.3441+16118A>G) c.*743T>C (n.*743T>C) c.1918T>C (p.Phe640Leu) c.276+16118A>G (n.276+16118A>G) c.*220+6426T>C (n.*220+6426T>C) c.1042T>C (p.Phe348Leu) c.1069T>C (p.Phe357Leu) c.1924T>C (p.Phe642Leu) c.1738T>C (p.Phe580Leu) c.1657T>C (p.Phe553Leu) c.1363T>C (p.Phe455Leu) c.1744T>C (p.Phe582Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687798A>T | CA346743309 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1999T>A (p.Phe667Ile) c.*311T>A (n.*311T>A) c.3441+16118A>T (n.3441+16118A>T) c.*743T>A (n.*743T>A) c.1918T>A (p.Phe640Ile) c.276+16118A>T (n.276+16118A>T) c.*220+6426T>A (n.*220+6426T>A) c.1042T>A (p.Phe348Ile) c.1069T>A (p.Phe357Ile) c.1924T>A (p.Phe642Ile) c.1738T>A (p.Phe580Ile) c.1657T>A (p.Phe553Ile) c.1363T>A (p.Phe455Ile) c.1744T>A (p.Phe582Ile) | |
2 | g.48687799G>A | CA426125055 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1998C>T (p.Gly666=) c.*310C>T (n.*310C>T) c.3441+16119G>A (n.3441+16119G>A) c.*742C>T (n.*742C>T) c.1917C>T (p.Gly639=) c.276+16119G>A (n.276+16119G>A) c.*220+6425C>T (n.*220+6425C>T) c.1041C>T (p.Gly347=) c.1068C>T (p.Gly356=) c.1923C>T (p.Gly641=) c.1737C>T (p.Gly579=) c.1656C>T (p.Gly552=) c.1362C>T (p.Gly454=) c.1743C>T (p.Gly581=) | dbSNP |
2 | g.48687799G>C | CA426125056 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1998C>G (p.Gly666=) c.*310C>G (n.*310C>G) c.3441+16119G>C (n.3441+16119G>C) c.*742C>G (n.*742C>G) c.1917C>G (p.Gly639=) c.276+16119G>C (n.276+16119G>C) c.*220+6425C>G (n.*220+6425C>G) c.1041C>G (p.Gly347=) c.1068C>G (p.Gly356=) c.1923C>G (p.Gly641=) c.1737C>G (p.Gly579=) c.1656C>G (p.Gly552=) c.1362C>G (p.Gly454=) c.1743C>G (p.Gly581=) | |
2 | g.48687799G= | CA1248600846 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1998C= (p.Gly666=) c.*310C= (n.*310C=) c.3441+16119G= (n.3441+16119G=) c.*742C= (n.*742C=) c.1917C= (p.Gly639=) c.276+16119G= (n.276+16119G=) c.*220+6425C= (n.*220+6425C=) c.1041C= (p.Gly347=) c.1068C= (p.Gly356=) c.1923C= (p.Gly641=) c.1737C= (p.Gly579=) c.1656C= (p.Gly552=) c.1362C= (p.Gly454=) c.1743C= (p.Gly581=) | |
2 | g.48687799G>T | CA426125057 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1998C>A (p.Gly666=) c.*310C>A (n.*310C>A) c.3441+16119G>T (n.3441+16119G>T) c.*742C>A (n.*742C>A) c.1917C>A (p.Gly639=) c.276+16119G>T (n.276+16119G>T) c.*220+6425C>A (n.*220+6425C>A) c.1041C>A (p.Gly347=) c.1068C>A (p.Gly356=) c.1923C>A (p.Gly641=) c.1737C>A (p.Gly579=) c.1656C>A (p.Gly552=) c.1362C>A (p.Gly454=) c.1743C>A (p.Gly581=) | |
2 | g.48687800C>A | CA346743317 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1997G>T (p.Gly666Val) c.*309G>T (n.*309G>T) c.3441+16120C>A (n.3441+16120C>A) c.*741G>T (n.*741G>T) c.1916G>T (p.Gly639Val) c.276+16120C>A (n.276+16120C>A) c.*220+6424G>T (n.*220+6424G>T) c.1040G>T (p.Gly347Val) c.1067G>T (p.Gly356Val) c.1922G>T (p.Gly641Val) c.1736G>T (p.Gly579Val) c.1655G>T (p.Gly552Val) c.1361G>T (p.Gly454Val) c.1742G>T (p.Gly581Val) | dbSNP gnomAD v4 |
2 | g.48687800C= | CA1248600847 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1997G= (p.Gly666=) c.*309G= (n.*309G=) c.3441+16120C= (n.3441+16120C=) c.*741G= (n.*741G=) c.1916G= (p.Gly639=) c.276+16120C= (n.276+16120C=) c.*220+6424G= (n.*220+6424G=) c.1040G= (p.Gly347=) c.1067G= (p.Gly356=) c.1922G= (p.Gly641=) c.1736G= (p.Gly579=) c.1655G= (p.Gly552=) c.1361G= (p.Gly454=) c.1742G= (p.Gly581=) | |
2 | g.48687800C>G | CA1652952 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1997G>C (p.Gly666Ala) c.*309G>C (n.*309G>C) c.3441+16120C>G (n.3441+16120C>G) c.*741G>C (n.*741G>C) c.1916G>C (p.Gly639Ala) c.276+16120C>G (n.276+16120C>G) c.*220+6424G>C (n.*220+6424G>C) c.1040G>C (p.Gly347Ala) c.1067G>C (p.Gly356Ala) c.1922G>C (p.Gly641Ala) c.1736G>C (p.Gly579Ala) c.1655G>C (p.Gly552Ala) c.1361G>C (p.Gly454Ala) c.1742G>C (p.Gly581Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687800C>T | CA346743322 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1997G>A (p.Gly666Asp) c.*309G>A (n.*309G>A) c.3441+16120C>T (n.3441+16120C>T) c.*741G>A (n.*741G>A) c.1916G>A (p.Gly639Asp) c.276+16120C>T (n.276+16120C>T) c.*220+6424G>A (n.*220+6424G>A) c.1040G>A (p.Gly347Asp) c.1067G>A (p.Gly356Asp) c.1922G>A (p.Gly641Asp) c.1736G>A (p.Gly579Asp) c.1655G>A (p.Gly552Asp) c.1361G>A (p.Gly454Asp) c.1742G>A (p.Gly581Asp) | |
2 | g.48687801C>A | CA346743323 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1996G>T (p.Gly666Cys) c.*308G>T (n.*308G>T) c.3441+16121C>A (n.3441+16121C>A) c.*740G>T (n.*740G>T) c.1915G>T (p.Gly639Cys) c.276+16121C>A (n.276+16121C>A) c.*220+6423G>T (n.*220+6423G>T) c.1039G>T (p.Gly347Cys) c.1066G>T (p.Gly356Cys) c.1921G>T (p.Gly641Cys) c.1735G>T (p.Gly579Cys) c.1654G>T (p.Gly552Cys) c.1360G>T (p.Gly454Cys) c.1741G>T (p.Gly581Cys) | dbSNP gnomAD v4 |
2 | g.48687801C= | CA1248600848 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1996G= (p.Gly666=) c.*308G= (n.*308G=) c.3441+16121C= (n.3441+16121C=) c.*740G= (n.*740G=) c.1915G= (p.Gly639=) c.276+16121C= (n.276+16121C=) c.*220+6423G= (n.*220+6423G=) c.1039G= (p.Gly347=) c.1066G= (p.Gly356=) c.1921G= (p.Gly641=) c.1735G= (p.Gly579=) c.1654G= (p.Gly552=) c.1360G= (p.Gly454=) c.1741G= (p.Gly581=) | |
2 | g.48687801C>G | CA346743324 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1996G>C (p.Gly666Arg) c.*308G>C (n.*308G>C) c.3441+16121C>G (n.3441+16121C>G) c.*740G>C (n.*740G>C) c.1915G>C (p.Gly639Arg) c.276+16121C>G (n.276+16121C>G) c.*220+6423G>C (n.*220+6423G>C) c.1039G>C (p.Gly347Arg) c.1066G>C (p.Gly356Arg) c.1921G>C (p.Gly641Arg) c.1735G>C (p.Gly579Arg) c.1654G>C (p.Gly552Arg) c.1360G>C (p.Gly454Arg) c.1741G>C (p.Gly581Arg) | |
2 | g.48687801C>T | CA346743325 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1996G>A (p.Gly666Ser) c.*308G>A (n.*308G>A) c.3441+16121C>T (n.3441+16121C>T) c.*740G>A (n.*740G>A) c.1915G>A (p.Gly639Ser) c.276+16121C>T (n.276+16121C>T) c.*220+6423G>A (n.*220+6423G>A) c.1039G>A (p.Gly347Ser) c.1066G>A (p.Gly356Ser) c.1921G>A (p.Gly641Ser) c.1735G>A (p.Gly579Ser) c.1654G>A (p.Gly552Ser) c.1360G>A (p.Gly454Ser) c.1741G>A (p.Gly581Ser) | gnomAD v4 |
2 | g.48687802A>C | CA346743327 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1995T>G (p.Asn665Lys) c.*307T>G (n.*307T>G) c.3441+16122A>C (n.3441+16122A>C) c.*739T>G (n.*739T>G) c.1914T>G (p.Asn638Lys) c.276+16122A>C (n.276+16122A>C) c.*220+6422T>G (n.*220+6422T>G) c.1038T>G (p.Asn346Lys) c.1065T>G (p.Asn355Lys) c.1920T>G (p.Asn640Lys) c.1734T>G (p.Asn578Lys) c.1653T>G (p.Asn551Lys) c.1359T>G (p.Asn453Lys) c.1740T>G (p.Asn580Lys) | gnomAD v4 |
2 | g.48687802A>G | CA426125067 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1995T>C (p.Asn665=) c.*307T>C (n.*307T>C) c.3441+16122A>G (n.3441+16122A>G) c.*739T>C (n.*739T>C) c.1914T>C (p.Asn638=) c.276+16122A>G (n.276+16122A>G) c.*220+6422T>C (n.*220+6422T>C) c.1038T>C (p.Asn346=) c.1065T>C (p.Asn355=) c.1920T>C (p.Asn640=) c.1734T>C (p.Asn578=) c.1653T>C (p.Asn551=) c.1359T>C (p.Asn453=) c.1740T>C (p.Asn580=) | gnomAD v4 |
2 | g.48687802A>T | CA346743329 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1995T>A (p.Asn665Lys) c.*307T>A (n.*307T>A) c.3441+16122A>T (n.3441+16122A>T) c.*739T>A (n.*739T>A) c.1914T>A (p.Asn638Lys) c.276+16122A>T (n.276+16122A>T) c.*220+6422T>A (n.*220+6422T>A) c.1038T>A (p.Asn346Lys) c.1065T>A (p.Asn355Lys) c.1920T>A (p.Asn640Lys) c.1734T>A (p.Asn578Lys) c.1653T>A (p.Asn551Lys) c.1359T>A (p.Asn453Lys) c.1740T>A (p.Asn580Lys) | |
2 | g.48687803T>A | CA346743334 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1994A>T (p.Asn665Ile) c.*306A>T (n.*306A>T) c.3441+16123T>A (n.3441+16123T>A) c.*738A>T (n.*738A>T) c.1913A>T (p.Asn638Ile) c.276+16123T>A (n.276+16123T>A) c.*220+6421A>T (n.*220+6421A>T) c.1037A>T (p.Asn346Ile) c.1064A>T (p.Asn355Ile) c.1919A>T (p.Asn640Ile) c.1733A>T (p.Asn578Ile) c.1652A>T (p.Asn551Ile) c.1358A>T (p.Asn453Ile) c.1739A>T (p.Asn580Ile) | |
2 | g.48687803T>C | CA346743333 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1994A>G (p.Asn665Ser) c.*306A>G (n.*306A>G) c.3441+16123T>C (n.3441+16123T>C) c.*738A>G (n.*738A>G) c.1913A>G (p.Asn638Ser) c.276+16123T>C (n.276+16123T>C) c.*220+6421A>G (n.*220+6421A>G) c.1037A>G (p.Asn346Ser) c.1064A>G (p.Asn355Ser) c.1919A>G (p.Asn640Ser) c.1733A>G (p.Asn578Ser) c.1652A>G (p.Asn551Ser) c.1358A>G (p.Asn453Ser) c.1739A>G (p.Asn580Ser) | |
2 | g.48687803T>G | CA346743332 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1994A>C (p.Asn665Thr) c.*306A>C (n.*306A>C) c.3441+16123T>G (n.3441+16123T>G) c.*738A>C (n.*738A>C) c.1913A>C (p.Asn638Thr) c.276+16123T>G (n.276+16123T>G) c.*220+6421A>C (n.*220+6421A>C) c.1037A>C (p.Asn346Thr) c.1064A>C (p.Asn355Thr) c.1919A>C (p.Asn640Thr) c.1733A>C (p.Asn578Thr) c.1652A>C (p.Asn551Thr) c.1358A>C (p.Asn453Thr) c.1739A>C (p.Asn580Thr) | dbSNP |
2 | g.48687803T= | CA1248600849 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1994A= (p.Asn665=) c.*306A= (n.*306A=) c.3441+16123T= (n.3441+16123T=) c.*738A= (n.*738A=) c.1913A= (p.Asn638=) c.276+16123T= (n.276+16123T=) c.*220+6421A= (n.*220+6421A=) c.1037A= (p.Asn346=) c.1064A= (p.Asn355=) c.1919A= (p.Asn640=) c.1733A= (p.Asn578=) c.1652A= (p.Asn551=) c.1358A= (p.Asn453=) c.1739A= (p.Asn580=) | |
2 | g.48687804T>A | CA346743335 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1993A>T (p.Asn665Tyr) c.*305A>T (n.*305A>T) c.3441+16124T>A (n.3441+16124T>A) c.*737A>T (n.*737A>T) c.1912A>T (p.Asn638Tyr) c.276+16124T>A (n.276+16124T>A) c.*220+6420A>T (n.*220+6420A>T) c.1036A>T (p.Asn346Tyr) c.1063A>T (p.Asn355Tyr) c.1918A>T (p.Asn640Tyr) c.1732A>T (p.Asn578Tyr) c.1651A>T (p.Asn551Tyr) c.1357A>T (p.Asn453Tyr) c.1738A>T (p.Asn580Tyr) | |
2 | g.48687804T>C | CA346743336 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1993A>G (p.Asn665Asp) c.*305A>G (n.*305A>G) c.3441+16124T>C (n.3441+16124T>C) c.*737A>G (n.*737A>G) c.1912A>G (p.Asn638Asp) c.276+16124T>C (n.276+16124T>C) c.*220+6420A>G (n.*220+6420A>G) c.1036A>G (p.Asn346Asp) c.1063A>G (p.Asn355Asp) c.1918A>G (p.Asn640Asp) c.1732A>G (p.Asn578Asp) c.1651A>G (p.Asn551Asp) c.1357A>G (p.Asn453Asp) c.1738A>G (p.Asn580Asp) | |
2 | g.48687804T>G | CA346743344 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1993A>C (p.Asn665His) c.*305A>C (n.*305A>C) c.3441+16124T>G (n.3441+16124T>G) c.*737A>C (n.*737A>C) c.1912A>C (p.Asn638His) c.276+16124T>G (n.276+16124T>G) c.*220+6420A>C (n.*220+6420A>C) c.1036A>C (p.Asn346His) c.1063A>C (p.Asn355His) c.1918A>C (p.Asn640His) c.1732A>C (p.Asn578His) c.1651A>C (p.Asn551His) c.1357A>C (p.Asn453His) c.1738A>C (p.Asn580His) | |
2 | g.48687805T>A | CA346743348 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1992A>T (p.Lys664Asn) c.*304A>T (n.*304A>T) c.3441+16125T>A (n.3441+16125T>A) c.*736A>T (n.*736A>T) c.1911A>T (p.Lys637Asn) c.276+16125T>A (n.276+16125T>A) c.*220+6419A>T (n.*220+6419A>T) c.1035A>T (p.Lys345Asn) c.1062A>T (p.Lys354Asn) c.1917A>T (p.Lys639Asn) c.1731A>T (p.Lys577Asn) c.1650A>T (p.Lys550Asn) c.1356A>T (p.Lys452Asn) c.1737A>T (p.Lys579Asn) | |
2 | g.48687805T>C | CA426125074 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1992A>G (p.Lys664=) c.*304A>G (n.*304A>G) c.3441+16125T>C (n.3441+16125T>C) c.*736A>G (n.*736A>G) c.1911A>G (p.Lys637=) c.276+16125T>C (n.276+16125T>C) c.*220+6419A>G (n.*220+6419A>G) c.1035A>G (p.Lys345=) c.1062A>G (p.Lys354=) c.1917A>G (p.Lys639=) c.1731A>G (p.Lys577=) c.1650A>G (p.Lys550=) c.1356A>G (p.Lys452=) c.1737A>G (p.Lys579=) | |
2 | g.48687805T>G | CA346743350 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1992A>C (p.Lys664Asn) c.*304A>C (n.*304A>C) c.3441+16125T>G (n.3441+16125T>G) c.*736A>C (n.*736A>C) c.1911A>C (p.Lys637Asn) c.276+16125T>G (n.276+16125T>G) c.*220+6419A>C (n.*220+6419A>C) c.1035A>C (p.Lys345Asn) c.1062A>C (p.Lys354Asn) c.1917A>C (p.Lys639Asn) c.1731A>C (p.Lys577Asn) c.1650A>C (p.Lys550Asn) c.1356A>C (p.Lys452Asn) c.1737A>C (p.Lys579Asn) | |
2 | g.48687806T>A | CA346743353 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1991A>T (p.Lys664Ile) c.*303A>T (n.*303A>T) c.3441+16126T>A (n.3441+16126T>A) c.*735A>T (n.*735A>T) c.1910A>T (p.Lys637Ile) c.276+16126T>A (n.276+16126T>A) c.*220+6418A>T (n.*220+6418A>T) c.1034A>T (p.Lys345Ile) c.1061A>T (p.Lys354Ile) c.1916A>T (p.Lys639Ile) c.1730A>T (p.Lys577Ile) c.1649A>T (p.Lys550Ile) c.1355A>T (p.Lys452Ile) c.1736A>T (p.Lys579Ile) | |
2 | g.48687806T>C | CA346743356 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1991A>G (p.Lys664Arg) c.*303A>G (n.*303A>G) c.3441+16126T>C (n.3441+16126T>C) c.*735A>G (n.*735A>G) c.1910A>G (p.Lys637Arg) c.276+16126T>C (n.276+16126T>C) c.*220+6418A>G (n.*220+6418A>G) c.1034A>G (p.Lys345Arg) c.1061A>G (p.Lys354Arg) c.1916A>G (p.Lys639Arg) c.1730A>G (p.Lys577Arg) c.1649A>G (p.Lys550Arg) c.1355A>G (p.Lys452Arg) c.1736A>G (p.Lys579Arg) | |
2 | g.48687806T>G | CA346743358 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1991A>C (p.Lys664Thr) c.*303A>C (n.*303A>C) c.3441+16126T>G (n.3441+16126T>G) c.*735A>C (n.*735A>C) c.1910A>C (p.Lys637Thr) c.276+16126T>G (n.276+16126T>G) c.*220+6418A>C (n.*220+6418A>C) c.1034A>C (p.Lys345Thr) c.1061A>C (p.Lys354Thr) c.1916A>C (p.Lys639Thr) c.1730A>C (p.Lys577Thr) c.1649A>C (p.Lys550Thr) c.1355A>C (p.Lys452Thr) c.1736A>C (p.Lys579Thr) | COSMIC |
2 | g.48687807T>A | CA346743365 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1990A>T (p.Lys664Ter) c.*302A>T (n.*302A>T) c.3441+16127T>A (n.3441+16127T>A) c.*734A>T (n.*734A>T) c.1909A>T (p.Lys637Ter) c.276+16127T>A (n.276+16127T>A) c.*220+6417A>T (n.*220+6417A>T) c.1033A>T (p.Lys345Ter) c.1060A>T (p.Lys354Ter) c.1915A>T (p.Lys639Ter) c.1729A>T (p.Lys577Ter) c.1648A>T (p.Lys550Ter) c.1354A>T (p.Lys452Ter) c.1735A>T (p.Lys579Ter) | |
2 | g.48687807T>C | CA346743370 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1990A>G (p.Lys664Glu) c.*302A>G (n.*302A>G) c.3441+16127T>C (n.3441+16127T>C) c.*734A>G (n.*734A>G) c.1909A>G (p.Lys637Glu) c.276+16127T>C (n.276+16127T>C) c.*220+6417A>G (n.*220+6417A>G) c.1033A>G (p.Lys345Glu) c.1060A>G (p.Lys354Glu) c.1915A>G (p.Lys639Glu) c.1729A>G (p.Lys577Glu) c.1648A>G (p.Lys550Glu) c.1354A>G (p.Lys452Glu) c.1735A>G (p.Lys579Glu) | |
2 | g.48687807T>G | CA346743371 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1990A>C (p.Lys664Gln) c.*302A>C (n.*302A>C) c.3441+16127T>G (n.3441+16127T>G) c.*734A>C (n.*734A>C) c.1909A>C (p.Lys637Gln) c.276+16127T>G (n.276+16127T>G) c.*220+6417A>C (n.*220+6417A>C) c.1033A>C (p.Lys345Gln) c.1060A>C (p.Lys354Gln) c.1915A>C (p.Lys639Gln) c.1729A>C (p.Lys577Gln) c.1648A>C (p.Lys550Gln) c.1354A>C (p.Lys452Gln) c.1735A>C (p.Lys579Gln) | |
2 | g.48687808G>A | CA426125080 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1989C>T (p.Cys663=) c.*301C>T (n.*301C>T) c.3441+16128G>A (n.3441+16128G>A) c.*733C>T (n.*733C>T) c.1908C>T (p.Cys636=) c.276+16128G>A (n.276+16128G>A) c.*220+6416C>T (n.*220+6416C>T) c.1032C>T (p.Cys344=) c.1059C>T (p.Cys353=) c.1914C>T (p.Cys638=) c.1728C>T (p.Cys576=) c.1647C>T (p.Cys549=) c.1353C>T (p.Cys451=) c.1734C>T (p.Cys578=) | gnomAD v4 |
2 | g.48687808G>C | CA346743373 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1989C>G (p.Cys663Trp) c.*301C>G (n.*301C>G) c.3441+16128G>C (n.3441+16128G>C) c.*733C>G (n.*733C>G) c.1908C>G (p.Cys636Trp) c.276+16128G>C (n.276+16128G>C) c.*220+6416C>G (n.*220+6416C>G) c.1032C>G (p.Cys344Trp) c.1059C>G (p.Cys353Trp) c.1914C>G (p.Cys638Trp) c.1728C>G (p.Cys576Trp) c.1647C>G (p.Cys549Trp) c.1353C>G (p.Cys451Trp) c.1734C>G (p.Cys578Trp) | |
2 | g.48687808G>T | CA346743375 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1989C>A (p.Cys663Ter) c.*301C>A (n.*301C>A) c.3441+16128G>T (n.3441+16128G>T) c.*733C>A (n.*733C>A) c.1908C>A (p.Cys636Ter) c.276+16128G>T (n.276+16128G>T) c.*220+6416C>A (n.*220+6416C>A) c.1032C>A (p.Cys344Ter) c.1059C>A (p.Cys353Ter) c.1914C>A (p.Cys638Ter) c.1728C>A (p.Cys576Ter) c.1647C>A (p.Cys549Ter) c.1353C>A (p.Cys451Ter) c.1734C>A (p.Cys578Ter) | |
2 | g.48687809C>A | CA346743392 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1988G>T (p.Cys663Phe) c.*300G>T (n.*300G>T) c.3441+16129C>A (n.3441+16129C>A) c.*732G>T (n.*732G>T) c.1907G>T (p.Cys636Phe) c.276+16129C>A (n.276+16129C>A) c.*220+6415G>T (n.*220+6415G>T) c.1031G>T (p.Cys344Phe) c.1058G>T (p.Cys353Phe) c.1913G>T (p.Cys638Phe) c.1727G>T (p.Cys576Phe) c.1646G>T (p.Cys549Phe) c.1352G>T (p.Cys451Phe) c.1733G>T (p.Cys578Phe) | |
2 | g.48687809C>G | CA346743400 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1988G>C (p.Cys663Ser) c.*300G>C (n.*300G>C) c.3441+16129C>G (n.3441+16129C>G) c.*732G>C (n.*732G>C) c.1907G>C (p.Cys636Ser) c.276+16129C>G (n.276+16129C>G) c.*220+6415G>C (n.*220+6415G>C) c.1031G>C (p.Cys344Ser) c.1058G>C (p.Cys353Ser) c.1913G>C (p.Cys638Ser) c.1727G>C (p.Cys576Ser) c.1646G>C (p.Cys549Ser) c.1352G>C (p.Cys451Ser) c.1733G>C (p.Cys578Ser) | COSMIC |
2 | g.48687809C>T | CA346743389 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1988G>A (p.Cys663Tyr) c.*300G>A (n.*300G>A) c.3441+16129C>T (n.3441+16129C>T) c.*732G>A (n.*732G>A) c.1907G>A (p.Cys636Tyr) c.276+16129C>T (n.276+16129C>T) c.*220+6415G>A (n.*220+6415G>A) c.1031G>A (p.Cys344Tyr) c.1058G>A (p.Cys353Tyr) c.1913G>A (p.Cys638Tyr) c.1727G>A (p.Cys576Tyr) c.1646G>A (p.Cys549Tyr) c.1352G>A (p.Cys451Tyr) c.1733G>A (p.Cys578Tyr) | |
2 | g.48687810A>C | CA346743401 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1987T>G (p.Cys663Gly) c.*299T>G (n.*299T>G) c.3441+16130A>C (n.3441+16130A>C) c.*731T>G (n.*731T>G) c.1906T>G (p.Cys636Gly) c.276+16130A>C (n.276+16130A>C) c.*220+6414T>G (n.*220+6414T>G) c.1030T>G (p.Cys344Gly) c.1057T>G (p.Cys353Gly) c.1912T>G (p.Cys638Gly) c.1726T>G (p.Cys576Gly) c.1645T>G (p.Cys549Gly) c.1351T>G (p.Cys451Gly) c.1732T>G (p.Cys578Gly) | |
2 | g.48687810A>G | CA346743403 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1987T>C (p.Cys663Arg) c.*299T>C (n.*299T>C) c.3441+16130A>G (n.3441+16130A>G) c.*731T>C (n.*731T>C) c.1906T>C (p.Cys636Arg) c.276+16130A>G (n.276+16130A>G) c.*220+6414T>C (n.*220+6414T>C) c.1030T>C (p.Cys344Arg) c.1057T>C (p.Cys353Arg) c.1912T>C (p.Cys638Arg) c.1726T>C (p.Cys576Arg) c.1645T>C (p.Cys549Arg) c.1351T>C (p.Cys451Arg) c.1732T>C (p.Cys578Arg) | |
2 | g.48687810A>T | CA346743402 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1987T>A (p.Cys663Ser) c.*299T>A (n.*299T>A) c.3441+16130A>T (n.3441+16130A>T) c.*731T>A (n.*731T>A) c.1906T>A (p.Cys636Ser) c.276+16130A>T (n.276+16130A>T) c.*220+6414T>A (n.*220+6414T>A) c.1030T>A (p.Cys344Ser) c.1057T>A (p.Cys353Ser) c.1912T>A (p.Cys638Ser) c.1726T>A (p.Cys576Ser) c.1645T>A (p.Cys549Ser) c.1351T>A (p.Cys451Ser) c.1732T>A (p.Cys578Ser) | gnomAD v4 |
2 | g.48687811G>A | CA426125086 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1986C>T (p.Asn662=) c.*298C>T (n.*298C>T) c.3441+16131G>A (n.3441+16131G>A) c.*730C>T (n.*730C>T) c.1905C>T (p.Asn635=) c.276+16131G>A (n.276+16131G>A) c.*220+6413C>T (n.*220+6413C>T) c.1029C>T (p.Asn343=) c.1056C>T (p.Asn352=) c.1911C>T (p.Asn637=) c.1725C>T (p.Asn575=) c.1644C>T (p.Asn548=) c.1350C>T (p.Asn450=) c.1731C>T (p.Asn577=) | |
2 | g.48687811G>C | CA346743404 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1986C>G (p.Asn662Lys) c.*298C>G (n.*298C>G) c.3441+16131G>C (n.3441+16131G>C) c.*730C>G (n.*730C>G) c.1905C>G (p.Asn635Lys) c.276+16131G>C (n.276+16131G>C) c.*220+6413C>G (n.*220+6413C>G) c.1029C>G (p.Asn343Lys) c.1056C>G (p.Asn352Lys) c.1911C>G (p.Asn637Lys) c.1725C>G (p.Asn575Lys) c.1644C>G (p.Asn548Lys) c.1350C>G (p.Asn450Lys) c.1731C>G (p.Asn577Lys) | |
2 | g.48687811G= | CA1248600850 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1986C= (p.Asn662=) c.*298C= (n.*298C=) c.3441+16131G= (n.3441+16131G=) c.*730C= (n.*730C=) c.1905C= (p.Asn635=) c.276+16131G= (n.276+16131G=) c.*220+6413C= (n.*220+6413C=) c.1029C= (p.Asn343=) c.1056C= (p.Asn352=) c.1911C= (p.Asn637=) c.1725C= (p.Asn575=) c.1644C= (p.Asn548=) c.1350C= (p.Asn450=) c.1731C= (p.Asn577=) | |
2 | g.48687811G>T | CA46752495 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1986C>A (p.Asn662Lys) c.*298C>A (n.*298C>A) c.3441+16131G>T (n.3441+16131G>T) c.*730C>A (n.*730C>A) c.1905C>A (p.Asn635Lys) c.276+16131G>T (n.276+16131G>T) c.*220+6413C>A (n.*220+6413C>A) c.1029C>A (p.Asn343Lys) c.1056C>A (p.Asn352Lys) c.1911C>A (p.Asn637Lys) c.1725C>A (p.Asn575Lys) c.1644C>A (p.Asn548Lys) c.1350C>A (p.Asn450Lys) c.1731C>A (p.Asn577Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687812T>A | CA346743405 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1985A>T (p.Asn662Ile) c.*297A>T (n.*297A>T) c.3441+16132T>A (n.3441+16132T>A) c.*729A>T (n.*729A>T) c.1904A>T (p.Asn635Ile) c.276+16132T>A (n.276+16132T>A) c.*220+6412A>T (n.*220+6412A>T) c.1028A>T (p.Asn343Ile) c.1055A>T (p.Asn352Ile) c.1910A>T (p.Asn637Ile) c.1724A>T (p.Asn575Ile) c.1643A>T (p.Asn548Ile) c.1349A>T (p.Asn450Ile) c.1730A>T (p.Asn577Ile) | |
2 | g.48687812T>C | CA1652953 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1985A>G (p.Asn662Ser) c.*297A>G (n.*297A>G) c.3441+16132T>C (n.3441+16132T>C) c.*729A>G (n.*729A>G) c.1904A>G (p.Asn635Ser) c.276+16132T>C (n.276+16132T>C) c.*220+6412A>G (n.*220+6412A>G) c.1028A>G (p.Asn343Ser) c.1055A>G (p.Asn352Ser) c.1910A>G (p.Asn637Ser) c.1724A>G (p.Asn575Ser) c.1643A>G (p.Asn548Ser) c.1349A>G (p.Asn450Ser) c.1730A>G (p.Asn577Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.48687812T>G | CA346743407 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1985A>C (p.Asn662Thr) c.*297A>C (n.*297A>C) c.3441+16132T>G (n.3441+16132T>G) c.*729A>C (n.*729A>C) c.1904A>C (p.Asn635Thr) c.276+16132T>G (n.276+16132T>G) c.*220+6412A>C (n.*220+6412A>C) c.1028A>C (p.Asn343Thr) c.1055A>C (p.Asn352Thr) c.1910A>C (p.Asn637Thr) c.1724A>C (p.Asn575Thr) c.1643A>C (p.Asn548Thr) c.1349A>C (p.Asn450Thr) c.1730A>C (p.Asn577Thr) | |
2 | g.48687812T= | CA1248600851 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1985A= (p.Asn662=) c.*297A= (n.*297A=) c.3441+16132T= (n.3441+16132T=) c.*729A= (n.*729A=) c.1904A= (p.Asn635=) c.276+16132T= (n.276+16132T=) c.*220+6412A= (n.*220+6412A=) c.1028A= (p.Asn343=) c.1055A= (p.Asn352=) c.1910A= (p.Asn637=) c.1724A= (p.Asn575=) c.1643A= (p.Asn548=) c.1349A= (p.Asn450=) c.1730A= (p.Asn577=) | |
2 | g.48687813T>A | CA346743411 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1984A>T (p.Asn662Tyr) c.*296A>T (n.*296A>T) c.3441+16133T>A (n.3441+16133T>A) c.*728A>T (n.*728A>T) c.1903A>T (p.Asn635Tyr) c.276+16133T>A (n.276+16133T>A) c.*220+6411A>T (n.*220+6411A>T) c.1027A>T (p.Asn343Tyr) c.1054A>T (p.Asn352Tyr) c.1909A>T (p.Asn637Tyr) c.1723A>T (p.Asn575Tyr) c.1642A>T (p.Asn548Tyr) c.1348A>T (p.Asn450Tyr) c.1729A>T (p.Asn577Tyr) | gnomAD v4 |
2 | g.48687813T>C | CA346743410 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1984A>G (p.Asn662Asp) c.*296A>G (n.*296A>G) c.3441+16133T>C (n.3441+16133T>C) c.*728A>G (n.*728A>G) c.1903A>G (p.Asn635Asp) c.276+16133T>C (n.276+16133T>C) c.*220+6411A>G (n.*220+6411A>G) c.1027A>G (p.Asn343Asp) c.1054A>G (p.Asn352Asp) c.1909A>G (p.Asn637Asp) c.1723A>G (p.Asn575Asp) c.1642A>G (p.Asn548Asp) c.1348A>G (p.Asn450Asp) c.1729A>G (p.Asn577Asp) | |
2 | g.48687813T>G | CA346743409 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1984A>C (p.Asn662His) c.*296A>C (n.*296A>C) c.3441+16133T>G (n.3441+16133T>G) c.*728A>C (n.*728A>C) c.1903A>C (p.Asn635His) c.276+16133T>G (n.276+16133T>G) c.*220+6411A>C (n.*220+6411A>C) c.1027A>C (p.Asn343His) c.1054A>C (p.Asn352His) c.1909A>C (p.Asn637His) c.1723A>C (p.Asn575His) c.1642A>C (p.Asn548His) c.1348A>C (p.Asn450His) c.1729A>C (p.Asn577His) | |
2 | g.48687814G>A | CA426125091 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1983C>T (p.Ser661=) c.*295C>T (n.*295C>T) c.3441+16134G>A (n.3441+16134G>A) c.*727C>T (n.*727C>T) c.1902C>T (p.Ser634=) c.276+16134G>A (n.276+16134G>A) c.*220+6410C>T (n.*220+6410C>T) c.1026C>T (p.Ser342=) c.1053C>T (p.Ser351=) c.1908C>T (p.Ser636=) c.1722C>T (p.Ser574=) c.1641C>T (p.Ser547=) c.1347C>T (p.Ser449=) c.1728C>T (p.Ser576=) | |
2 | g.48687814G>C | CA426125092 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1983C>G (p.Ser661=) c.*295C>G (n.*295C>G) c.3441+16134G>C (n.3441+16134G>C) c.*727C>G (n.*727C>G) c.1902C>G (p.Ser634=) c.276+16134G>C (n.276+16134G>C) c.*220+6410C>G (n.*220+6410C>G) c.1026C>G (p.Ser342=) c.1053C>G (p.Ser351=) c.1908C>G (p.Ser636=) c.1722C>G (p.Ser574=) c.1641C>G (p.Ser547=) c.1347C>G (p.Ser449=) c.1728C>G (p.Ser576=) | |
2 | g.48687814G>T | CA426125093 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1983C>A (p.Ser661=) c.*295C>A (n.*295C>A) c.3441+16134G>T (n.3441+16134G>T) c.*727C>A (n.*727C>A) c.1902C>A (p.Ser634=) c.276+16134G>T (n.276+16134G>T) c.*220+6410C>A (n.*220+6410C>A) c.1026C>A (p.Ser342=) c.1053C>A (p.Ser351=) c.1908C>A (p.Ser636=) c.1722C>A (p.Ser574=) c.1641C>A (p.Ser547=) c.1347C>A (p.Ser449=) c.1728C>A (p.Ser576=) | |
2 | g.48687815G>A | CA346743413 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1982C>T (p.Ser661Phe) c.*294C>T (n.*294C>T) c.3441+16135G>A (n.3441+16135G>A) c.*726C>T (n.*726C>T) c.1901C>T (p.Ser634Phe) c.276+16135G>A (n.276+16135G>A) c.*220+6409C>T (n.*220+6409C>T) c.1025C>T (p.Ser342Phe) c.1052C>T (p.Ser351Phe) c.1907C>T (p.Ser636Phe) c.1721C>T (p.Ser574Phe) c.1640C>T (p.Ser547Phe) c.1346C>T (p.Ser449Phe) c.1727C>T (p.Ser576Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687815G>C | CA46752500 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1982C>G (p.Ser661Cys) c.*294C>G (n.*294C>G) c.3441+16135G>C (n.3441+16135G>C) c.*726C>G (n.*726C>G) c.1901C>G (p.Ser634Cys) c.276+16135G>C (n.276+16135G>C) c.*220+6409C>G (n.*220+6409C>G) c.1025C>G (p.Ser342Cys) c.1052C>G (p.Ser351Cys) c.1907C>G (p.Ser636Cys) c.1721C>G (p.Ser574Cys) c.1640C>G (p.Ser547Cys) c.1346C>G (p.Ser449Cys) c.1727C>G (p.Ser576Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687815G= | CA1248600852 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1982C= (p.Ser661=) c.*294C= (n.*294C=) c.3441+16135G= (n.3441+16135G=) c.*726C= (n.*726C=) c.1901C= (p.Ser634=) c.276+16135G= (n.276+16135G=) c.*220+6409C= (n.*220+6409C=) c.1025C= (p.Ser342=) c.1052C= (p.Ser351=) c.1907C= (p.Ser636=) c.1721C= (p.Ser574=) c.1640C= (p.Ser547=) c.1346C= (p.Ser449=) c.1727C= (p.Ser576=) | |
2 | g.48687815G>T | CA346743415 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1982C>A (p.Ser661Tyr) c.*294C>A (n.*294C>A) c.3441+16135G>T (n.3441+16135G>T) c.*726C>A (n.*726C>A) c.1901C>A (p.Ser634Tyr) c.276+16135G>T (n.276+16135G>T) c.*220+6409C>A (n.*220+6409C>A) c.1025C>A (p.Ser342Tyr) c.1052C>A (p.Ser351Tyr) c.1907C>A (p.Ser636Tyr) c.1721C>A (p.Ser574Tyr) c.1640C>A (p.Ser547Tyr) c.1346C>A (p.Ser449Tyr) c.1727C>A (p.Ser576Tyr) | |
2 | g.48687816A= | CA1248600853 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1981T= (p.Ser661=) c.*293T= (n.*293T=) c.3441+16136A= (n.3441+16136A=) c.*725T= (n.*725T=) c.1900T= (p.Ser634=) c.276+16136A= (n.276+16136A=) c.*220+6408T= (n.*220+6408T=) c.1024T= (p.Ser342=) c.1051T= (p.Ser351=) c.1906T= (p.Ser636=) c.1720T= (p.Ser574=) c.1639T= (p.Ser547=) c.1345T= (p.Ser449=) c.1726T= (p.Ser576=) | |
2 | g.48687816A>C | CA346743417 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1981T>G (p.Ser661Ala) c.*293T>G (n.*293T>G) c.3441+16136A>C (n.3441+16136A>C) c.*725T>G (n.*725T>G) c.1900T>G (p.Ser634Ala) c.276+16136A>C (n.276+16136A>C) c.*220+6408T>G (n.*220+6408T>G) c.1024T>G (p.Ser342Ala) c.1051T>G (p.Ser351Ala) c.1906T>G (p.Ser636Ala) c.1720T>G (p.Ser574Ala) c.1639T>G (p.Ser547Ala) c.1345T>G (p.Ser449Ala) c.1726T>G (p.Ser576Ala) | |
2 | g.48687816A>G | CA46752503 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1981T>C (p.Ser661Pro) c.*293T>C (n.*293T>C) c.3441+16136A>G (n.3441+16136A>G) c.*725T>C (n.*725T>C) c.1900T>C (p.Ser634Pro) c.276+16136A>G (n.276+16136A>G) c.*220+6408T>C (n.*220+6408T>C) c.1024T>C (p.Ser342Pro) c.1051T>C (p.Ser351Pro) c.1906T>C (p.Ser636Pro) c.1720T>C (p.Ser574Pro) c.1639T>C (p.Ser547Pro) c.1345T>C (p.Ser449Pro) c.1726T>C (p.Ser576Pro) | dbSNP |
2 | g.48687816A>T | CA1652954 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1981T>A (p.Ser661Thr) c.*293T>A (n.*293T>A) c.3441+16136A>T (n.3441+16136A>T) c.*725T>A (n.*725T>A) c.1900T>A (p.Ser634Thr) c.276+16136A>T (n.276+16136A>T) c.*220+6408T>A (n.*220+6408T>A) c.1024T>A (p.Ser342Thr) c.1051T>A (p.Ser351Thr) c.1906T>A (p.Ser636Thr) c.1720T>A (p.Ser574Thr) c.1639T>A (p.Ser547Thr) c.1345T>A (p.Ser449Thr) c.1726T>A (p.Ser576Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687817G>A | CA426125100 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1980C>T (p.Thr660=) c.*292C>T (n.*292C>T) c.3441+16137G>A (n.3441+16137G>A) c.*724C>T (n.*724C>T) c.1899C>T (p.Thr633=) c.276+16137G>A (n.276+16137G>A) c.*220+6407C>T (n.*220+6407C>T) c.1023C>T (p.Thr341=) c.1050C>T (p.Thr350=) c.1905C>T (p.Thr635=) c.1719C>T (p.Thr573=) c.1638C>T (p.Thr546=) c.1344C>T (p.Thr448=) c.1725C>T (p.Thr575=) | gnomAD v4 COSMIC |
2 | g.48687817G>C | CA426125101 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1980C>G (p.Thr660=) c.*292C>G (n.*292C>G) c.3441+16137G>C (n.3441+16137G>C) c.*724C>G (n.*724C>G) c.1899C>G (p.Thr633=) c.276+16137G>C (n.276+16137G>C) c.*220+6407C>G (n.*220+6407C>G) c.1023C>G (p.Thr341=) c.1050C>G (p.Thr350=) c.1905C>G (p.Thr635=) c.1719C>G (p.Thr573=) c.1638C>G (p.Thr546=) c.1344C>G (p.Thr448=) c.1725C>G (p.Thr575=) | |
2 | g.48687817G>T | CA426125102 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1980C>A (p.Thr660=) c.*292C>A (n.*292C>A) c.3441+16137G>T (n.3441+16137G>T) c.*724C>A (n.*724C>A) c.1899C>A (p.Thr633=) c.276+16137G>T (n.276+16137G>T) c.*220+6407C>A (n.*220+6407C>A) c.1023C>A (p.Thr341=) c.1050C>A (p.Thr350=) c.1905C>A (p.Thr635=) c.1719C>A (p.Thr573=) c.1638C>A (p.Thr546=) c.1344C>A (p.Thr448=) c.1725C>A (p.Thr575=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687818G>A | CA346743426 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1979C>T (p.Thr660Ile) c.*291C>T (n.*291C>T) c.3441+16138G>A (n.3441+16138G>A) c.*723C>T (n.*723C>T) c.1898C>T (p.Thr633Ile) c.276+16138G>A (n.276+16138G>A) c.*220+6406C>T (n.*220+6406C>T) c.1022C>T (p.Thr341Ile) c.1049C>T (p.Thr350Ile) c.1904C>T (p.Thr635Ile) c.1718C>T (p.Thr573Ile) c.1637C>T (p.Thr546Ile) c.1343C>T (p.Thr448Ile) c.1724C>T (p.Thr575Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687818G>C | CA1652955 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1979C>G (p.Thr660Ser) c.*291C>G (n.*291C>G) c.3441+16138G>C (n.3441+16138G>C) c.*723C>G (n.*723C>G) c.1898C>G (p.Thr633Ser) c.276+16138G>C (n.276+16138G>C) c.*220+6406C>G (n.*220+6406C>G) c.1022C>G (p.Thr341Ser) c.1049C>G (p.Thr350Ser) c.1904C>G (p.Thr635Ser) c.1718C>G (p.Thr573Ser) c.1637C>G (p.Thr546Ser) c.1343C>G (p.Thr448Ser) c.1724C>G (p.Thr575Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687818G= | CA1248600854 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1979C= (p.Thr660=) c.*291C= (n.*291C=) c.3441+16138G= (n.3441+16138G=) c.*723C= (n.*723C=) c.1898C= (p.Thr633=) c.276+16138G= (n.276+16138G=) c.*220+6406C= (n.*220+6406C=) c.1022C= (p.Thr341=) c.1049C= (p.Thr350=) c.1904C= (p.Thr635=) c.1718C= (p.Thr573=) c.1637C= (p.Thr546=) c.1343C= (p.Thr448=) c.1724C= (p.Thr575=) | |
2 | g.48687818G>T | CA346743428 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1979C>A (p.Thr660Asn) c.*291C>A (n.*291C>A) c.3441+16138G>T (n.3441+16138G>T) c.*723C>A (n.*723C>A) c.1898C>A (p.Thr633Asn) c.276+16138G>T (n.276+16138G>T) c.*220+6406C>A (n.*220+6406C>A) c.1022C>A (p.Thr341Asn) c.1049C>A (p.Thr350Asn) c.1904C>A (p.Thr635Asn) c.1718C>A (p.Thr573Asn) c.1637C>A (p.Thr546Asn) c.1343C>A (p.Thr448Asn) c.1724C>A (p.Thr575Asn) | |
2 | g.48687819T>A | CA346743433 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1978A>T (p.Thr660Ser) c.*290A>T (n.*290A>T) c.3441+16139T>A (n.3441+16139T>A) c.*722A>T (n.*722A>T) c.1897A>T (p.Thr633Ser) c.276+16139T>A (n.276+16139T>A) c.*220+6405A>T (n.*220+6405A>T) c.1021A>T (p.Thr341Ser) c.1048A>T (p.Thr350Ser) c.1903A>T (p.Thr635Ser) c.1717A>T (p.Thr573Ser) c.1636A>T (p.Thr546Ser) c.1342A>T (p.Thr448Ser) c.1723A>T (p.Thr575Ser) | |
2 | g.48687819T>C | CA346743434 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1978A>G (p.Thr660Ala) c.*290A>G (n.*290A>G) c.3441+16139T>C (n.3441+16139T>C) c.*722A>G (n.*722A>G) c.1897A>G (p.Thr633Ala) c.276+16139T>C (n.276+16139T>C) c.*220+6405A>G (n.*220+6405A>G) c.1021A>G (p.Thr341Ala) c.1048A>G (p.Thr350Ala) c.1903A>G (p.Thr635Ala) c.1717A>G (p.Thr573Ala) c.1636A>G (p.Thr546Ala) c.1342A>G (p.Thr448Ala) c.1723A>G (p.Thr575Ala) | |
2 | g.48687819T>G | CA346743439 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1978A>C (p.Thr660Pro) c.*290A>C (n.*290A>C) c.3441+16139T>G (n.3441+16139T>G) c.*722A>C (n.*722A>C) c.1897A>C (p.Thr633Pro) c.276+16139T>G (n.276+16139T>G) c.*220+6405A>C (n.*220+6405A>C) c.1021A>C (p.Thr341Pro) c.1048A>C (p.Thr350Pro) c.1903A>C (p.Thr635Pro) c.1717A>C (p.Thr573Pro) c.1636A>C (p.Thr546Pro) c.1342A>C (p.Thr448Pro) c.1723A>C (p.Thr575Pro) | |
2 | g.48687820G>A | CA46752505 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1977C>T (p.Tyr659=) c.*289C>T (n.*289C>T) c.3441+16140G>A (n.3441+16140G>A) c.*721C>T (n.*721C>T) c.1896C>T (p.Tyr632=) c.276+16140G>A (n.276+16140G>A) c.*220+6404C>T (n.*220+6404C>T) c.1020C>T (p.Tyr340=) c.1047C>T (p.Tyr349=) c.1902C>T (p.Tyr634=) c.1716C>T (p.Tyr572=) c.1635C>T (p.Tyr545=) c.1341C>T (p.Tyr447=) c.1722C>T (p.Tyr574=) | dbSNP gnomAD v4 |
2 | g.48687820G>C | CA346743441 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1977C>G (p.Tyr659Ter) c.*289C>G (n.*289C>G) c.3441+16140G>C (n.3441+16140G>C) c.*721C>G (n.*721C>G) c.1896C>G (p.Tyr632Ter) c.276+16140G>C (n.276+16140G>C) c.*220+6404C>G (n.*220+6404C>G) c.1020C>G (p.Tyr340Ter) c.1047C>G (p.Tyr349Ter) c.1902C>G (p.Tyr634Ter) c.1716C>G (p.Tyr572Ter) c.1635C>G (p.Tyr545Ter) c.1341C>G (p.Tyr447Ter) c.1722C>G (p.Tyr574Ter) | |
2 | g.48687820G= | CA1248600855 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1977C= (p.Tyr659=) c.*289C= (n.*289C=) c.3441+16140G= (n.3441+16140G=) c.*721C= (n.*721C=) c.1896C= (p.Tyr632=) c.276+16140G= (n.276+16140G=) c.*220+6404C= (n.*220+6404C=) c.1020C= (p.Tyr340=) c.1047C= (p.Tyr349=) c.1902C= (p.Tyr634=) c.1716C= (p.Tyr572=) c.1635C= (p.Tyr545=) c.1341C= (p.Tyr447=) c.1722C= (p.Tyr574=) | |
2 | g.48687820G>T | CA346743448 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1977C>A (p.Tyr659Ter) c.*289C>A (n.*289C>A) c.3441+16140G>T (n.3441+16140G>T) c.*721C>A (n.*721C>A) c.1896C>A (p.Tyr632Ter) c.276+16140G>T (n.276+16140G>T) c.*220+6404C>A (n.*220+6404C>A) c.1020C>A (p.Tyr340Ter) c.1047C>A (p.Tyr349Ter) c.1902C>A (p.Tyr634Ter) c.1716C>A (p.Tyr572Ter) c.1635C>A (p.Tyr545Ter) c.1341C>A (p.Tyr447Ter) c.1722C>A (p.Tyr574Ter) | |
2 | g.48687821T>A | CA346743452 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1976A>T (p.Tyr659Phe) c.*288A>T (n.*288A>T) c.3441+16141T>A (n.3441+16141T>A) c.*720A>T (n.*720A>T) c.1895A>T (p.Tyr632Phe) c.276+16141T>A (n.276+16141T>A) c.*220+6403A>T (n.*220+6403A>T) c.1019A>T (p.Tyr340Phe) c.1046A>T (p.Tyr349Phe) c.1901A>T (p.Tyr634Phe) c.1715A>T (p.Tyr572Phe) c.1634A>T (p.Tyr545Phe) c.1340A>T (p.Tyr447Phe) c.1721A>T (p.Tyr574Phe) | |
2 | g.48687821T>C | CA346743453 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1976A>G (p.Tyr659Cys) c.*288A>G (n.*288A>G) c.3441+16141T>C (n.3441+16141T>C) c.*720A>G (n.*720A>G) c.1895A>G (p.Tyr632Cys) c.276+16141T>C (n.276+16141T>C) c.*220+6403A>G (n.*220+6403A>G) c.1019A>G (p.Tyr340Cys) c.1046A>G (p.Tyr349Cys) c.1901A>G (p.Tyr634Cys) c.1715A>G (p.Tyr572Cys) c.1634A>G (p.Tyr545Cys) c.1340A>G (p.Tyr447Cys) c.1721A>G (p.Tyr574Cys) | |
2 | g.48687821T>G | CA346743457 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1976A>C (p.Tyr659Ser) c.*288A>C (n.*288A>C) c.3441+16141T>G (n.3441+16141T>G) c.*720A>C (n.*720A>C) c.1895A>C (p.Tyr632Ser) c.276+16141T>G (n.276+16141T>G) c.*220+6403A>C (n.*220+6403A>C) c.1019A>C (p.Tyr340Ser) c.1046A>C (p.Tyr349Ser) c.1901A>C (p.Tyr634Ser) c.1715A>C (p.Tyr572Ser) c.1634A>C (p.Tyr545Ser) c.1340A>C (p.Tyr447Ser) c.1721A>C (p.Tyr574Ser) | |
2 | g.48687822A>C | CA346743460 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1975T>G (p.Tyr659Asp) c.*287T>G (n.*287T>G) c.3441+16142A>C (n.3441+16142A>C) c.*719T>G (n.*719T>G) c.1894T>G (p.Tyr632Asp) c.276+16142A>C (n.276+16142A>C) c.*220+6402T>G (n.*220+6402T>G) c.1018T>G (p.Tyr340Asp) c.1045T>G (p.Tyr349Asp) c.1900T>G (p.Tyr634Asp) c.1714T>G (p.Tyr572Asp) c.1633T>G (p.Tyr545Asp) c.1339T>G (p.Tyr447Asp) c.1720T>G (p.Tyr574Asp) | |
2 | g.48687822A>G | CA346743463 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1975T>C (p.Tyr659His) c.*287T>C (n.*287T>C) c.3441+16142A>G (n.3441+16142A>G) c.*719T>C (n.*719T>C) c.1894T>C (p.Tyr632His) c.276+16142A>G (n.276+16142A>G) c.*220+6402T>C (n.*220+6402T>C) c.1018T>C (p.Tyr340His) c.1045T>C (p.Tyr349His) c.1900T>C (p.Tyr634His) c.1714T>C (p.Tyr572His) c.1633T>C (p.Tyr545His) c.1339T>C (p.Tyr447His) c.1720T>C (p.Tyr574His) | COSMIC |
2 | g.48687822A>T | CA346743465 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1975T>A (p.Tyr659Asn) c.*287T>A (n.*287T>A) c.3441+16142A>T (n.3441+16142A>T) c.*719T>A (n.*719T>A) c.1894T>A (p.Tyr632Asn) c.276+16142A>T (n.276+16142A>T) c.*220+6402T>A (n.*220+6402T>A) c.1018T>A (p.Tyr340Asn) c.1045T>A (p.Tyr349Asn) c.1900T>A (p.Tyr634Asn) c.1714T>A (p.Tyr572Asn) c.1633T>A (p.Tyr545Asn) c.1339T>A (p.Tyr447Asn) c.1720T>A (p.Tyr574Asn) | |
2 | g.48687823A>C | CA426125110 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1974T>G (p.Ala658=) c.*286T>G (n.*286T>G) c.3441+16143A>C (n.3441+16143A>C) c.*718T>G (n.*718T>G) c.1893T>G (p.Ala631=) c.276+16143A>C (n.276+16143A>C) c.*220+6401T>G (n.*220+6401T>G) c.1017T>G (p.Ala339=) c.1044T>G (p.Ala348=) c.1899T>G (p.Ala633=) c.1713T>G (p.Ala571=) c.1632T>G (p.Ala544=) c.1338T>G (p.Ala446=) c.1719T>G (p.Ala573=) | |
2 | g.48687823A>G | CA426125111 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1974T>C (p.Ala658=) c.*286T>C (n.*286T>C) c.3441+16143A>G (n.3441+16143A>G) c.*718T>C (n.*718T>C) c.1893T>C (p.Ala631=) c.276+16143A>G (n.276+16143A>G) c.*220+6401T>C (n.*220+6401T>C) c.1017T>C (p.Ala339=) c.1044T>C (p.Ala348=) c.1899T>C (p.Ala633=) c.1713T>C (p.Ala571=) c.1632T>C (p.Ala544=) c.1338T>C (p.Ala446=) c.1719T>C (p.Ala573=) | |
2 | g.48687823A>T | CA426125112 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1974T>A (p.Ala658=) c.*286T>A (n.*286T>A) c.3441+16143A>T (n.3441+16143A>T) c.*718T>A (n.*718T>A) c.1893T>A (p.Ala631=) c.276+16143A>T (n.276+16143A>T) c.*220+6401T>A (n.*220+6401T>A) c.1017T>A (p.Ala339=) c.1044T>A (p.Ala348=) c.1899T>A (p.Ala633=) c.1713T>A (p.Ala571=) c.1632T>A (p.Ala544=) c.1338T>A (p.Ala446=) c.1719T>A (p.Ala573=) | |
2 | g.48687824G>A | CA346743468 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1973C>T (p.Ala658Val) c.*285C>T (n.*285C>T) c.3441+16144G>A (n.3441+16144G>A) c.*717C>T (n.*717C>T) c.1892C>T (p.Ala631Val) c.276+16144G>A (n.276+16144G>A) c.*220+6400C>T (n.*220+6400C>T) c.1016C>T (p.Ala339Val) c.1043C>T (p.Ala348Val) c.1898C>T (p.Ala633Val) c.1712C>T (p.Ala571Val) c.1631C>T (p.Ala544Val) c.1337C>T (p.Ala446Val) c.1718C>T (p.Ala573Val) | gnomAD v4 |
2 | g.48687824G>C | CA346743470 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1973C>G (p.Ala658Gly) c.*285C>G (n.*285C>G) c.3441+16144G>C (n.3441+16144G>C) c.*717C>G (n.*717C>G) c.1892C>G (p.Ala631Gly) c.276+16144G>C (n.276+16144G>C) c.*220+6400C>G (n.*220+6400C>G) c.1016C>G (p.Ala339Gly) c.1043C>G (p.Ala348Gly) c.1898C>G (p.Ala633Gly) c.1712C>G (p.Ala571Gly) c.1631C>G (p.Ala544Gly) c.1337C>G (p.Ala446Gly) c.1718C>G (p.Ala573Gly) | |
2 | g.48687824G>T | CA346743469 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1973C>A (p.Ala658Asp) c.*285C>A (n.*285C>A) c.3441+16144G>T (n.3441+16144G>T) c.*717C>A (n.*717C>A) c.1892C>A (p.Ala631Asp) c.276+16144G>T (n.276+16144G>T) c.*220+6400C>A (n.*220+6400C>A) c.1016C>A (p.Ala339Asp) c.1043C>A (p.Ala348Asp) c.1898C>A (p.Ala633Asp) c.1712C>A (p.Ala571Asp) c.1631C>A (p.Ala544Asp) c.1337C>A (p.Ala446Asp) c.1718C>A (p.Ala573Asp) | gnomAD v4 |
2 | g.48687825C>A | CA346743471 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1972G>T (p.Ala658Ser) c.*284G>T (n.*284G>T) c.3441+16145C>A (n.3441+16145C>A) c.*716G>T (n.*716G>T) c.1891G>T (p.Ala631Ser) c.276+16145C>A (n.276+16145C>A) c.*220+6399G>T (n.*220+6399G>T) c.1015G>T (p.Ala339Ser) c.1042G>T (p.Ala348Ser) c.1897G>T (p.Ala633Ser) c.1711G>T (p.Ala571Ser) c.1630G>T (p.Ala544Ser) c.1336G>T (p.Ala446Ser) c.1717G>T (p.Ala573Ser) | gnomAD v4 |
2 | g.48687825C>G | CA346743472 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1972G>C (p.Ala658Pro) c.*284G>C (n.*284G>C) c.3441+16145C>G (n.3441+16145C>G) c.*716G>C (n.*716G>C) c.1891G>C (p.Ala631Pro) c.276+16145C>G (n.276+16145C>G) c.*220+6399G>C (n.*220+6399G>C) c.1015G>C (p.Ala339Pro) c.1042G>C (p.Ala348Pro) c.1897G>C (p.Ala633Pro) c.1711G>C (p.Ala571Pro) c.1630G>C (p.Ala544Pro) c.1336G>C (p.Ala446Pro) c.1717G>C (p.Ala573Pro) | |
2 | g.48687825C>T | CA346743473 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1972G>A (p.Ala658Thr) c.*284G>A (n.*284G>A) c.3441+16145C>T (n.3441+16145C>T) c.*716G>A (n.*716G>A) c.1891G>A (p.Ala631Thr) c.276+16145C>T (n.276+16145C>T) c.*220+6399G>A (n.*220+6399G>A) c.1015G>A (p.Ala339Thr) c.1042G>A (p.Ala348Thr) c.1897G>A (p.Ala633Thr) c.1711G>A (p.Ala571Thr) c.1630G>A (p.Ala544Thr) c.1336G>A (p.Ala446Thr) c.1717G>A (p.Ala573Thr) | |
2 | g.48687826T>A | CA426125118 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1971A>T (p.Ser657=) c.*283A>T (n.*283A>T) c.3441+16146T>A (n.3441+16146T>A) c.*715A>T (n.*715A>T) c.1890A>T (p.Ser630=) c.276+16146T>A (n.276+16146T>A) c.*220+6398A>T (n.*220+6398A>T) c.1014A>T (p.Ser338=) c.1041A>T (p.Ser347=) c.1896A>T (p.Ser632=) c.1710A>T (p.Ser570=) c.1629A>T (p.Ser543=) c.1335A>T (p.Ser445=) c.1716A>T (p.Ser572=) | |
2 | g.48687826T>C | CA1652956 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1971A>G (p.Ser657=) c.*283A>G (n.*283A>G) c.3441+16146T>C (n.3441+16146T>C) c.*715A>G (n.*715A>G) c.1890A>G (p.Ser630=) c.276+16146T>C (n.276+16146T>C) c.*220+6398A>G (n.*220+6398A>G) c.1014A>G (p.Ser338=) c.1041A>G (p.Ser347=) c.1896A>G (p.Ser632=) c.1710A>G (p.Ser570=) c.1629A>G (p.Ser543=) c.1335A>G (p.Ser445=) c.1716A>G (p.Ser572=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687826T>G | CA426125119 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1971A>C (p.Ser657=) c.*283A>C (n.*283A>C) c.3441+16146T>G (n.3441+16146T>G) c.*715A>C (n.*715A>C) c.1890A>C (p.Ser630=) c.276+16146T>G (n.276+16146T>G) c.*220+6398A>C (n.*220+6398A>C) c.1014A>C (p.Ser338=) c.1041A>C (p.Ser347=) c.1896A>C (p.Ser632=) c.1710A>C (p.Ser570=) c.1629A>C (p.Ser543=) c.1335A>C (p.Ser445=) c.1716A>C (p.Ser572=) | |
2 | g.48687826T= | CA1248600856 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1971A= (p.Ser657=) c.*283A= (n.*283A=) c.3441+16146T= (n.3441+16146T=) c.*715A= (n.*715A=) c.1890A= (p.Ser630=) c.276+16146T= (n.276+16146T=) c.*220+6398A= (n.*220+6398A=) c.1014A= (p.Ser338=) c.1041A= (p.Ser347=) c.1896A= (p.Ser632=) c.1710A= (p.Ser570=) c.1629A= (p.Ser543=) c.1335A= (p.Ser445=) c.1716A= (p.Ser572=) | |
2 | g.48687827G>A | CA346743476 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1970C>T (p.Ser657Leu) c.*282C>T (n.*282C>T) c.3441+16147G>A (n.3441+16147G>A) c.*714C>T (n.*714C>T) c.1889C>T (p.Ser630Leu) c.276+16147G>A (n.276+16147G>A) c.*220+6397C>T (n.*220+6397C>T) c.1013C>T (p.Ser338Leu) c.1040C>T (p.Ser347Leu) c.1895C>T (p.Ser632Leu) c.1709C>T (p.Ser570Leu) c.1628C>T (p.Ser543Leu) c.1334C>T (p.Ser445Leu) c.1715C>T (p.Ser572Leu) | |
2 | g.48687827G>C | CA346743478 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1970C>G (p.Ser657Ter) c.*282C>G (n.*282C>G) c.3441+16147G>C (n.3441+16147G>C) c.*714C>G (n.*714C>G) c.1889C>G (p.Ser630Ter) c.276+16147G>C (n.276+16147G>C) c.*220+6397C>G (n.*220+6397C>G) c.1013C>G (p.Ser338Ter) c.1040C>G (p.Ser347Ter) c.1895C>G (p.Ser632Ter) c.1709C>G (p.Ser570Ter) c.1628C>G (p.Ser543Ter) c.1334C>G (p.Ser445Ter) c.1715C>G (p.Ser572Ter) | |
2 | g.48687827G>T | CA346743479 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1970C>A (p.Ser657Ter) c.*282C>A (n.*282C>A) c.3441+16147G>T (n.3441+16147G>T) c.*714C>A (n.*714C>A) c.1889C>A (p.Ser630Ter) c.276+16147G>T (n.276+16147G>T) c.*220+6397C>A (n.*220+6397C>A) c.1013C>A (p.Ser338Ter) c.1040C>A (p.Ser347Ter) c.1895C>A (p.Ser632Ter) c.1709C>A (p.Ser570Ter) c.1628C>A (p.Ser543Ter) c.1334C>A (p.Ser445Ter) c.1715C>A (p.Ser572Ter) | |
2 | g.48687828A= | CA1248600857 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1969T= (p.Ser657=) c.*281T= (n.*281T=) c.3441+16148A= (n.3441+16148A=) c.*713T= (n.*713T=) c.1888T= (p.Ser630=) c.276+16148A= (n.276+16148A=) c.*220+6396T= (n.*220+6396T=) c.1012T= (p.Ser338=) c.1039T= (p.Ser347=) c.1894T= (p.Ser632=) c.1708T= (p.Ser570=) c.1627T= (p.Ser543=) c.1333T= (p.Ser445=) c.1714T= (p.Ser572=) | |
2 | g.48687828A>C | CA346743482 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1969T>G (p.Ser657Ala) c.*281T>G (n.*281T>G) c.3441+16148A>C (n.3441+16148A>C) c.*713T>G (n.*713T>G) c.1888T>G (p.Ser630Ala) c.276+16148A>C (n.276+16148A>C) c.*220+6396T>G (n.*220+6396T>G) c.1012T>G (p.Ser338Ala) c.1039T>G (p.Ser347Ala) c.1894T>G (p.Ser632Ala) c.1708T>G (p.Ser570Ala) c.1627T>G (p.Ser543Ala) c.1333T>G (p.Ser445Ala) c.1714T>G (p.Ser572Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687828A>G | CA346743483 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1969T>C (p.Ser657Pro) c.*281T>C (n.*281T>C) c.3441+16148A>G (n.3441+16148A>G) c.*713T>C (n.*713T>C) c.1888T>C (p.Ser630Pro) c.276+16148A>G (n.276+16148A>G) c.*220+6396T>C (n.*220+6396T>C) c.1012T>C (p.Ser338Pro) c.1039T>C (p.Ser347Pro) c.1894T>C (p.Ser632Pro) c.1708T>C (p.Ser570Pro) c.1627T>C (p.Ser543Pro) c.1333T>C (p.Ser445Pro) c.1714T>C (p.Ser572Pro) | |
2 | g.48687828A>T | CA346743484 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1969T>A (p.Ser657Thr) c.*281T>A (n.*281T>A) c.3441+16148A>T (n.3441+16148A>T) c.*713T>A (n.*713T>A) c.1888T>A (p.Ser630Thr) c.276+16148A>T (n.276+16148A>T) c.*220+6396T>A (n.*220+6396T>A) c.1012T>A (p.Ser338Thr) c.1039T>A (p.Ser347Thr) c.1894T>A (p.Ser632Thr) c.1708T>A (p.Ser570Thr) c.1627T>A (p.Ser543Thr) c.1333T>A (p.Ser445Thr) c.1714T>A (p.Ser572Thr) | |
2 | g.48687829A>C | CA346743485 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1968T>G (p.Phe656Leu) c.*280T>G (n.*280T>G) c.3441+16149A>C (n.3441+16149A>C) c.*712T>G (n.*712T>G) c.1887T>G (p.Phe629Leu) c.276+16149A>C (n.276+16149A>C) c.*220+6395T>G (n.*220+6395T>G) c.1011T>G (p.Phe337Leu) c.1038T>G (p.Phe346Leu) c.1893T>G (p.Phe631Leu) c.1707T>G (p.Phe569Leu) c.1626T>G (p.Phe542Leu) c.1332T>G (p.Phe444Leu) c.1713T>G (p.Phe571Leu) | |
2 | g.48687829A>G | CA426125126 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1968T>C (p.Phe656=) c.*280T>C (n.*280T>C) c.3441+16149A>G (n.3441+16149A>G) c.*712T>C (n.*712T>C) c.1887T>C (p.Phe629=) c.276+16149A>G (n.276+16149A>G) c.*220+6395T>C (n.*220+6395T>C) c.1011T>C (p.Phe337=) c.1038T>C (p.Phe346=) c.1893T>C (p.Phe631=) c.1707T>C (p.Phe569=) c.1626T>C (p.Phe542=) c.1332T>C (p.Phe444=) c.1713T>C (p.Phe571=) | |
2 | g.48687829A>T | CA346743486 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1968T>A (p.Phe656Leu) c.*280T>A (n.*280T>A) c.3441+16149A>T (n.3441+16149A>T) c.*712T>A (n.*712T>A) c.1887T>A (p.Phe629Leu) c.276+16149A>T (n.276+16149A>T) c.*220+6395T>A (n.*220+6395T>A) c.1011T>A (p.Phe337Leu) c.1038T>A (p.Phe346Leu) c.1893T>A (p.Phe631Leu) c.1707T>A (p.Phe569Leu) c.1626T>A (p.Phe542Leu) c.1332T>A (p.Phe444Leu) c.1713T>A (p.Phe571Leu) | |
2 | g.48687830A= | CA1248600858 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1967T= (p.Phe656=) c.*279T= (n.*279T=) c.3441+16150A= (n.3441+16150A=) c.*711T= (n.*711T=) c.1886T= (p.Phe629=) c.276+16150A= (n.276+16150A=) c.*220+6394T= (n.*220+6394T=) c.1010T= (p.Phe337=) c.1037T= (p.Phe346=) c.1892T= (p.Phe631=) c.1706T= (p.Phe569=) c.1625T= (p.Phe542=) c.1331T= (p.Phe444=) c.1712T= (p.Phe571=) | |
2 | g.48687830A>C | CA346743491 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1967T>G (p.Phe656Cys) c.*279T>G (n.*279T>G) c.3441+16150A>C (n.3441+16150A>C) c.*711T>G (n.*711T>G) c.1886T>G (p.Phe629Cys) c.276+16150A>C (n.276+16150A>C) c.*220+6394T>G (n.*220+6394T>G) c.1010T>G (p.Phe337Cys) c.1037T>G (p.Phe346Cys) c.1892T>G (p.Phe631Cys) c.1706T>G (p.Phe569Cys) c.1625T>G (p.Phe542Cys) c.1331T>G (p.Phe444Cys) c.1712T>G (p.Phe571Cys) | |
2 | g.48687830A>G | CA1652957 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1967T>C (p.Phe656Ser) c.*279T>C (n.*279T>C) c.3441+16150A>G (n.3441+16150A>G) c.*711T>C (n.*711T>C) c.1886T>C (p.Phe629Ser) c.276+16150A>G (n.276+16150A>G) c.*220+6394T>C (n.*220+6394T>C) c.1010T>C (p.Phe337Ser) c.1037T>C (p.Phe346Ser) c.1892T>C (p.Phe631Ser) c.1706T>C (p.Phe569Ser) c.1625T>C (p.Phe542Ser) c.1331T>C (p.Phe444Ser) c.1712T>C (p.Phe571Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687830A>T | CA346743490 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1967T>A (p.Phe656Tyr) c.*279T>A (n.*279T>A) c.3441+16150A>T (n.3441+16150A>T) c.*711T>A (n.*711T>A) c.1886T>A (p.Phe629Tyr) c.276+16150A>T (n.276+16150A>T) c.*220+6394T>A (n.*220+6394T>A) c.1010T>A (p.Phe337Tyr) c.1037T>A (p.Phe346Tyr) c.1892T>A (p.Phe631Tyr) c.1706T>A (p.Phe569Tyr) c.1625T>A (p.Phe542Tyr) c.1331T>A (p.Phe444Tyr) c.1712T>A (p.Phe571Tyr) | |
2 | g.48687831A>C | CA346743497 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1966T>G (p.Phe656Val) c.*278T>G (n.*278T>G) c.3441+16151A>C (n.3441+16151A>C) c.*710T>G (n.*710T>G) c.1885T>G (p.Phe629Val) c.276+16151A>C (n.276+16151A>C) c.*220+6393T>G (n.*220+6393T>G) c.1009T>G (p.Phe337Val) c.1036T>G (p.Phe346Val) c.1891T>G (p.Phe631Val) c.1705T>G (p.Phe569Val) c.1624T>G (p.Phe542Val) c.1330T>G (p.Phe444Val) c.1711T>G (p.Phe571Val) | |
2 | g.48687831A>G | CA346743499 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1966T>C (p.Phe656Leu) c.*278T>C (n.*278T>C) c.3441+16151A>G (n.3441+16151A>G) c.*710T>C (n.*710T>C) c.1885T>C (p.Phe629Leu) c.276+16151A>G (n.276+16151A>G) c.*220+6393T>C (n.*220+6393T>C) c.1009T>C (p.Phe337Leu) c.1036T>C (p.Phe346Leu) c.1891T>C (p.Phe631Leu) c.1705T>C (p.Phe569Leu) c.1624T>C (p.Phe542Leu) c.1330T>C (p.Phe444Leu) c.1711T>C (p.Phe571Leu) | |
2 | g.48687831A>T | CA346743502 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1966T>A (p.Phe656Ile) c.*278T>A (n.*278T>A) c.3441+16151A>T (n.3441+16151A>T) c.*710T>A (n.*710T>A) c.1885T>A (p.Phe629Ile) c.276+16151A>T (n.276+16151A>T) c.*220+6393T>A (n.*220+6393T>A) c.1009T>A (p.Phe337Ile) c.1036T>A (p.Phe346Ile) c.1891T>A (p.Phe631Ile) c.1705T>A (p.Phe569Ile) c.1624T>A (p.Phe542Ile) c.1330T>A (p.Phe444Ile) c.1711T>A (p.Phe571Ile) | |
2 | g.48687832A>C | CA346743505 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1965T>G (p.Asp655Glu) c.*277T>G (n.*277T>G) c.3441+16152A>C (n.3441+16152A>C) c.*709T>G (n.*709T>G) c.1884T>G (p.Asp628Glu) c.276+16152A>C (n.276+16152A>C) c.*220+6392T>G (n.*220+6392T>G) c.1008T>G (p.Asp336Glu) c.1035T>G (p.Asp345Glu) c.1890T>G (p.Asp630Glu) c.1704T>G (p.Asp568Glu) c.1623T>G (p.Asp541Glu) c.1329T>G (p.Asp443Glu) c.1710T>G (p.Asp570Glu) | |
2 | g.48687832A>G | CA426125131 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1965T>C (p.Asp655=) c.*277T>C (n.*277T>C) c.3441+16152A>G (n.3441+16152A>G) c.*709T>C (n.*709T>C) c.1884T>C (p.Asp628=) c.276+16152A>G (n.276+16152A>G) c.*220+6392T>C (n.*220+6392T>C) c.1008T>C (p.Asp336=) c.1035T>C (p.Asp345=) c.1890T>C (p.Asp630=) c.1704T>C (p.Asp568=) c.1623T>C (p.Asp541=) c.1329T>C (p.Asp443=) c.1710T>C (p.Asp570=) | |
2 | g.48687832A>T | CA346743511 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1965T>A (p.Asp655Glu) c.*277T>A (n.*277T>A) c.3441+16152A>T (n.3441+16152A>T) c.*709T>A (n.*709T>A) c.1884T>A (p.Asp628Glu) c.276+16152A>T (n.276+16152A>T) c.*220+6392T>A (n.*220+6392T>A) c.1008T>A (p.Asp336Glu) c.1035T>A (p.Asp345Glu) c.1890T>A (p.Asp630Glu) c.1704T>A (p.Asp568Glu) c.1623T>A (p.Asp541Glu) c.1329T>A (p.Asp443Glu) c.1710T>A (p.Asp570Glu) | |
2 | g.48687833T>A | CA346743514 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1964A>T (p.Asp655Val) c.*276A>T (n.*276A>T) c.3441+16153T>A (n.3441+16153T>A) c.*708A>T (n.*708A>T) c.1883A>T (p.Asp628Val) c.276+16153T>A (n.276+16153T>A) c.*220+6391A>T (n.*220+6391A>T) c.1007A>T (p.Asp336Val) c.1034A>T (p.Asp345Val) c.1889A>T (p.Asp630Val) c.1703A>T (p.Asp568Val) c.1622A>T (p.Asp541Val) c.1328A>T (p.Asp443Val) c.1709A>T (p.Asp570Val) | |
2 | g.48687833T>C | CA346743517 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1964A>G (p.Asp655Gly) c.*276A>G (n.*276A>G) c.3441+16153T>C (n.3441+16153T>C) c.*708A>G (n.*708A>G) c.1883A>G (p.Asp628Gly) c.276+16153T>C (n.276+16153T>C) c.*220+6391A>G (n.*220+6391A>G) c.1007A>G (p.Asp336Gly) c.1034A>G (p.Asp345Gly) c.1889A>G (p.Asp630Gly) c.1703A>G (p.Asp568Gly) c.1622A>G (p.Asp541Gly) c.1328A>G (p.Asp443Gly) c.1709A>G (p.Asp570Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687833T>G | CA346743518 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1964A>C (p.Asp655Ala) c.*276A>C (n.*276A>C) c.3441+16153T>G (n.3441+16153T>G) c.*708A>C (n.*708A>C) c.1883A>C (p.Asp628Ala) c.276+16153T>G (n.276+16153T>G) c.*220+6391A>C (n.*220+6391A>C) c.1007A>C (p.Asp336Ala) c.1034A>C (p.Asp345Ala) c.1889A>C (p.Asp630Ala) c.1703A>C (p.Asp568Ala) c.1622A>C (p.Asp541Ala) c.1328A>C (p.Asp443Ala) c.1709A>C (p.Asp570Ala) | |
2 | g.48687833T= | CA1248600859 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1964A= (p.Asp655=) c.*276A= (n.*276A=) c.3441+16153T= (n.3441+16153T=) c.*708A= (n.*708A=) c.1883A= (p.Asp628=) c.276+16153T= (n.276+16153T=) c.*220+6391A= (n.*220+6391A=) c.1007A= (p.Asp336=) c.1034A= (p.Asp345=) c.1889A= (p.Asp630=) c.1703A= (p.Asp568=) c.1622A= (p.Asp541=) c.1328A= (p.Asp443=) c.1709A= (p.Asp570=) | |
2 | g.48687834C>A | CA346743521 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1963G>T (p.Asp655Tyr) c.*275G>T (n.*275G>T) c.3441+16154C>A (n.3441+16154C>A) c.*707G>T (n.*707G>T) c.1882G>T (p.Asp628Tyr) c.276+16154C>A (n.276+16154C>A) c.*220+6390G>T (n.*220+6390G>T) c.1006G>T (p.Asp336Tyr) c.1033G>T (p.Asp345Tyr) c.1888G>T (p.Asp630Tyr) c.1702G>T (p.Asp568Tyr) c.1621G>T (p.Asp541Tyr) c.1327G>T (p.Asp443Tyr) c.1708G>T (p.Asp570Tyr) | gnomAD v4 COSMIC |
2 | g.48687834C= | CA1248600860 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1963G= (p.Asp655=) c.*275G= (n.*275G=) c.3441+16154C= (n.3441+16154C=) c.*707G= (n.*707G=) c.1882G= (p.Asp628=) c.276+16154C= (n.276+16154C=) c.*220+6390G= (n.*220+6390G=) c.1006G= (p.Asp336=) c.1033G= (p.Asp345=) c.1888G= (p.Asp630=) c.1702G= (p.Asp568=) c.1621G= (p.Asp541=) c.1327G= (p.Asp443=) c.1708G= (p.Asp570=) | |
2 | g.48687834C>G | CA346743523 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1963G>C (p.Asp655His) c.*275G>C (n.*275G>C) c.3441+16154C>G (n.3441+16154C>G) c.*707G>C (n.*707G>C) c.1882G>C (p.Asp628His) c.276+16154C>G (n.276+16154C>G) c.*220+6390G>C (n.*220+6390G>C) c.1006G>C (p.Asp336His) c.1033G>C (p.Asp345His) c.1888G>C (p.Asp630His) c.1702G>C (p.Asp568His) c.1621G>C (p.Asp541His) c.1327G>C (p.Asp443His) c.1708G>C (p.Asp570His) | dbSNP gnomAD v4 |
2 | g.48687834C>T | CA346743526 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1963G>A (p.Asp655Asn) c.*275G>A (n.*275G>A) c.3441+16154C>T (n.3441+16154C>T) c.*707G>A (n.*707G>A) c.1882G>A (p.Asp628Asn) c.276+16154C>T (n.276+16154C>T) c.*220+6390G>A (n.*220+6390G>A) c.1006G>A (p.Asp336Asn) c.1033G>A (p.Asp345Asn) c.1888G>A (p.Asp630Asn) c.1702G>A (p.Asp568Asn) c.1621G>A (p.Asp541Asn) c.1327G>A (p.Asp443Asn) c.1708G>A (p.Asp570Asn) | |
2 | g.48687835T>A | CA1652958 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1962A>T (p.Lys654Asn) c.*274A>T (n.*274A>T) c.3441+16155T>A (n.3441+16155T>A) c.*706A>T (n.*706A>T) c.1881A>T (p.Lys627Asn) c.276+16155T>A (n.276+16155T>A) c.*220+6389A>T (n.*220+6389A>T) c.1005A>T (p.Lys335Asn) c.1032A>T (p.Lys344Asn) c.1887A>T (p.Lys629Asn) c.1701A>T (p.Lys567Asn) c.1620A>T (p.Lys540Asn) c.1326A>T (p.Lys442Asn) c.1707A>T (p.Lys569Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687835T>C | CA426125134 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1962A>G (p.Lys654=) c.*274A>G (n.*274A>G) c.3441+16155T>C (n.3441+16155T>C) c.*706A>G (n.*706A>G) c.1881A>G (p.Lys627=) c.276+16155T>C (n.276+16155T>C) c.*220+6389A>G (n.*220+6389A>G) c.1005A>G (p.Lys335=) c.1032A>G (p.Lys344=) c.1887A>G (p.Lys629=) c.1701A>G (p.Lys567=) c.1620A>G (p.Lys540=) c.1326A>G (p.Lys442=) c.1707A>G (p.Lys569=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687835T>G | CA346743527 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1962A>C (p.Lys654Asn) c.*274A>C (n.*274A>C) c.3441+16155T>G (n.3441+16155T>G) c.*706A>C (n.*706A>C) c.1881A>C (p.Lys627Asn) c.276+16155T>G (n.276+16155T>G) c.*220+6389A>C (n.*220+6389A>C) c.1005A>C (p.Lys335Asn) c.1032A>C (p.Lys344Asn) c.1887A>C (p.Lys629Asn) c.1701A>C (p.Lys567Asn) c.1620A>C (p.Lys540Asn) c.1326A>C (p.Lys442Asn) c.1707A>C (p.Lys569Asn) | |
2 | g.48687835T= | CA1248600861 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1962A= (p.Lys654=) c.*274A= (n.*274A=) c.3441+16155T= (n.3441+16155T=) c.*706A= (n.*706A=) c.1881A= (p.Lys627=) c.276+16155T= (n.276+16155T=) c.*220+6389A= (n.*220+6389A=) c.1005A= (p.Lys335=) c.1032A= (p.Lys344=) c.1887A= (p.Lys629=) c.1701A= (p.Lys567=) c.1620A= (p.Lys540=) c.1326A= (p.Lys442=) c.1707A= (p.Lys569=) | |
2 | g.48687836T>A | CA346743533 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1961A>T (p.Lys654Ile) c.*273A>T (n.*273A>T) c.3441+16156T>A (n.3441+16156T>A) c.*705A>T (n.*705A>T) c.1880A>T (p.Lys627Ile) c.276+16156T>A (n.276+16156T>A) c.*220+6388A>T (n.*220+6388A>T) c.1004A>T (p.Lys335Ile) c.1031A>T (p.Lys344Ile) c.1886A>T (p.Lys629Ile) c.1700A>T (p.Lys567Ile) c.1619A>T (p.Lys540Ile) c.1325A>T (p.Lys442Ile) c.1706A>T (p.Lys569Ile) | |
2 | g.48687836T>C | CA346743537 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1961A>G (p.Lys654Arg) c.*273A>G (n.*273A>G) c.3441+16156T>C (n.3441+16156T>C) c.*705A>G (n.*705A>G) c.1880A>G (p.Lys627Arg) c.276+16156T>C (n.276+16156T>C) c.*220+6388A>G (n.*220+6388A>G) c.1004A>G (p.Lys335Arg) c.1031A>G (p.Lys344Arg) c.1886A>G (p.Lys629Arg) c.1700A>G (p.Lys567Arg) c.1619A>G (p.Lys540Arg) c.1325A>G (p.Lys442Arg) c.1706A>G (p.Lys569Arg) | |
2 | g.48687836T>G | CA346743534 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1961A>C (p.Lys654Thr) c.*273A>C (n.*273A>C) c.3441+16156T>G (n.3441+16156T>G) c.*705A>C (n.*705A>C) c.1880A>C (p.Lys627Thr) c.276+16156T>G (n.276+16156T>G) c.*220+6388A>C (n.*220+6388A>C) c.1004A>C (p.Lys335Thr) c.1031A>C (p.Lys344Thr) c.1886A>C (p.Lys629Thr) c.1700A>C (p.Lys567Thr) c.1619A>C (p.Lys540Thr) c.1325A>C (p.Lys442Thr) c.1706A>C (p.Lys569Thr) | |
2 | g.48687837T>A | CA346743541 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1960A>T (p.Lys654Ter) c.*272A>T (n.*272A>T) c.3441+16157T>A (n.3441+16157T>A) c.*704A>T (n.*704A>T) c.1879A>T (p.Lys627Ter) c.276+16157T>A (n.276+16157T>A) c.*220+6387A>T (n.*220+6387A>T) c.1003A>T (p.Lys335Ter) c.1030A>T (p.Lys344Ter) c.1885A>T (p.Lys629Ter) c.1699A>T (p.Lys567Ter) c.1618A>T (p.Lys540Ter) c.1324A>T (p.Lys442Ter) c.1705A>T (p.Lys569Ter) | |
2 | g.48687837T>C | CA346743543 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1960A>G (p.Lys654Glu) c.*272A>G (n.*272A>G) c.3441+16157T>C (n.3441+16157T>C) c.*704A>G (n.*704A>G) c.1879A>G (p.Lys627Glu) c.276+16157T>C (n.276+16157T>C) c.*220+6387A>G (n.*220+6387A>G) c.1003A>G (p.Lys335Glu) c.1030A>G (p.Lys344Glu) c.1885A>G (p.Lys629Glu) c.1699A>G (p.Lys567Glu) c.1618A>G (p.Lys540Glu) c.1324A>G (p.Lys442Glu) c.1705A>G (p.Lys569Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687837T>G | CA346743545 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1960A>C (p.Lys654Gln) c.*272A>C (n.*272A>C) c.3441+16157T>G (n.3441+16157T>G) c.*704A>C (n.*704A>C) c.1879A>C (p.Lys627Gln) c.276+16157T>G (n.276+16157T>G) c.*220+6387A>C (n.*220+6387A>C) c.1003A>C (p.Lys335Gln) c.1030A>C (p.Lys344Gln) c.1885A>C (p.Lys629Gln) c.1699A>C (p.Lys567Gln) c.1618A>C (p.Lys540Gln) c.1324A>C (p.Lys442Gln) c.1705A>C (p.Lys569Gln) | |
2 | g.48687837T= | CA1248600862 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1960A= (p.Lys654=) c.*272A= (n.*272A=) c.3441+16157T= (n.3441+16157T=) c.*704A= (n.*704A=) c.1879A= (p.Lys627=) c.276+16157T= (n.276+16157T=) c.*220+6387A= (n.*220+6387A=) c.1003A= (p.Lys335=) c.1030A= (p.Lys344=) c.1885A= (p.Lys629=) c.1699A= (p.Lys567=) c.1618A= (p.Lys540=) c.1324A= (p.Lys442=) c.1705A= (p.Lys569=) | |
2 | g.48687838C>A | CA346743548 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1959G>T (p.Arg653Ser) c.*271G>T (n.*271G>T) c.3441+16158C>A (n.3441+16158C>A) c.*703G>T (n.*703G>T) c.1878G>T (p.Arg626Ser) c.276+16158C>A (n.276+16158C>A) c.*220+6386G>T (n.*220+6386G>T) c.1002G>T (p.Arg334Ser) c.1029G>T (p.Arg343Ser) c.1884G>T (p.Arg628Ser) c.1698G>T (p.Arg566Ser) c.1617G>T (p.Arg539Ser) c.1323G>T (p.Arg441Ser) c.1704G>T (p.Arg568Ser) | |
2 | g.48687838C>G | CA346743549 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1959G>C (p.Arg653Ser) c.*271G>C (n.*271G>C) c.3441+16158C>G (n.3441+16158C>G) c.*703G>C (n.*703G>C) c.1878G>C (p.Arg626Ser) c.276+16158C>G (n.276+16158C>G) c.*220+6386G>C (n.*220+6386G>C) c.1002G>C (p.Arg334Ser) c.1029G>C (p.Arg343Ser) c.1884G>C (p.Arg628Ser) c.1698G>C (p.Arg566Ser) c.1617G>C (p.Arg539Ser) c.1323G>C (p.Arg441Ser) c.1704G>C (p.Arg568Ser) | gnomAD v4 |
2 | g.48687838C>T | CA426125140 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1959G>A (p.Arg653=) c.*271G>A (n.*271G>A) c.3441+16158C>T (n.3441+16158C>T) c.*703G>A (n.*703G>A) c.1878G>A (p.Arg626=) c.276+16158C>T (n.276+16158C>T) c.*220+6386G>A (n.*220+6386G>A) c.1002G>A (p.Arg334=) c.1029G>A (p.Arg343=) c.1884G>A (p.Arg628=) c.1698G>A (p.Arg566=) c.1617G>A (p.Arg539=) c.1323G>A (p.Arg441=) c.1704G>A (p.Arg568=) | |
2 | g.48687839C>A | CA346743552 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1958G>T (p.Arg653Met) c.*270G>T (n.*270G>T) c.3441+16159C>A (n.3441+16159C>A) c.*702G>T (n.*702G>T) c.1877G>T (p.Arg626Met) c.276+16159C>A (n.276+16159C>A) c.*220+6385G>T (n.*220+6385G>T) c.1001G>T (p.Arg334Met) c.1028G>T (p.Arg343Met) c.1883G>T (p.Arg628Met) c.1697G>T (p.Arg566Met) c.1616G>T (p.Arg539Met) c.1322G>T (p.Arg441Met) c.1703G>T (p.Arg568Met) | |
2 | g.48687839C>G | CA346743554 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1958G>C (p.Arg653Thr) c.*270G>C (n.*270G>C) c.3441+16159C>G (n.3441+16159C>G) c.*702G>C (n.*702G>C) c.1877G>C (p.Arg626Thr) c.276+16159C>G (n.276+16159C>G) c.*220+6385G>C (n.*220+6385G>C) c.1001G>C (p.Arg334Thr) c.1028G>C (p.Arg343Thr) c.1883G>C (p.Arg628Thr) c.1697G>C (p.Arg566Thr) c.1616G>C (p.Arg539Thr) c.1322G>C (p.Arg441Thr) c.1703G>C (p.Arg568Thr) | |
2 | g.48687839C>T | CA346743556 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1958G>A (p.Arg653Lys) c.*270G>A (n.*270G>A) c.3441+16159C>T (n.3441+16159C>T) c.*702G>A (n.*702G>A) c.1877G>A (p.Arg626Lys) c.276+16159C>T (n.276+16159C>T) c.*220+6385G>A (n.*220+6385G>A) c.1001G>A (p.Arg334Lys) c.1028G>A (p.Arg343Lys) c.1883G>A (p.Arg628Lys) c.1697G>A (p.Arg566Lys) c.1616G>A (p.Arg539Lys) c.1322G>A (p.Arg441Lys) c.1703G>A (p.Arg568Lys) | gnomAD v4 |
2 | g.48687839_48687840delinsCT | CA1248600863 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1957_1958delinsAG (p.Arg653=) c.*269_*270delinsAG (n.*269_*270delinsAG) c.3441+16159_3441+16160delinsCT (n.3441+16159_3441+16160delinsCT) c.*701_*702delinsAG (n.*701_*702delinsAG) c.1876_1877delinsAG (p.Arg626=) c.276+16159_276+16160delinsCT (n.276+16159_276+16160delinsCT) c.*220+6384_*220+6385delinsAG (n.*220+6384_*220+6385delinsAG) c.1000_1001delinsAG (p.Arg334=) c.1027_1028delinsAG (p.Arg343=) c.1882_1883delinsAG (p.Arg628=) c.1696_1697delinsAG (p.Arg566=) c.1615_1616delinsAG (p.Arg539=) c.1321_1322delinsAG (p.Arg441=) c.1702_1703delinsAG (p.Arg568=) | |
2 | g.48687840T>A | CA346743559 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1957A>T (p.Arg653Trp) c.*269A>T (n.*269A>T) c.3441+16160T>A (n.3441+16160T>A) c.*701A>T (n.*701A>T) c.1876A>T (p.Arg626Trp) c.276+16160T>A (n.276+16160T>A) c.*220+6384A>T (n.*220+6384A>T) c.1000A>T (p.Arg334Trp) c.1027A>T (p.Arg343Trp) c.1882A>T (p.Arg628Trp) c.1696A>T (p.Arg566Trp) c.1615A>T (p.Arg539Trp) c.1321A>T (p.Arg441Trp) c.1702A>T (p.Arg568Trp) | |
2 | g.48687840T>C | CA346743560 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1957A>G (p.Arg653Gly) c.*269A>G (n.*269A>G) c.3441+16160T>C (n.3441+16160T>C) c.*701A>G (n.*701A>G) c.1876A>G (p.Arg626Gly) c.276+16160T>C (n.276+16160T>C) c.*220+6384A>G (n.*220+6384A>G) c.1000A>G (p.Arg334Gly) c.1027A>G (p.Arg343Gly) c.1882A>G (p.Arg628Gly) c.1696A>G (p.Arg566Gly) c.1615A>G (p.Arg539Gly) c.1321A>G (p.Arg441Gly) c.1702A>G (p.Arg568Gly) | |
2 | g.48687840T>G | CA426125143 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1957A>C (p.Arg653=) c.*269A>C (n.*269A>C) c.3441+16160T>G (n.3441+16160T>G) c.*701A>C (n.*701A>C) c.1876A>C (p.Arg626=) c.276+16160T>G (n.276+16160T>G) c.*220+6384A>C (n.*220+6384A>C) c.1000A>C (p.Arg334=) c.1027A>C (p.Arg343=) c.1882A>C (p.Arg628=) c.1696A>C (p.Arg566=) c.1615A>C (p.Arg539=) c.1321A>C (p.Arg441=) c.1702A>C (p.Arg568=) | |
2 | g.48687841del | CA1248600864 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1957del (p.Arg653GlyfsTer26) c.*269del (n.*269del) c.3441+16161del (n.3441+16161del) c.*701del (n.*701del) c.1876del (p.Arg626GlyfsTer26) c.276+16161del (n.276+16161del) c.*220+6384del (n.*220+6384del) c.1000del (p.Arg334GlyfsTer26) c.1027del (p.Arg343GlyfsTer26) c.1882del (p.Arg628GlyfsTer26) c.1696del (p.Arg566GlyfsTer26) c.1615del (p.Arg539GlyfsTer26) c.1321del (p.Arg441GlyfsTer26) c.1702del (p.Arg568GlyfsTer26) | dbSNP |
2 | g.48687841T>A | CA346743564 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1956A>T (p.Arg652Ser) c.*268A>T (n.*268A>T) c.3441+16161T>A (n.3441+16161T>A) c.*700A>T (n.*700A>T) c.1875A>T (p.Arg625Ser) c.276+16161T>A (n.276+16161T>A) c.*220+6383A>T (n.*220+6383A>T) c.999A>T (p.Arg333Ser) c.1026A>T (p.Arg342Ser) c.1881A>T (p.Arg627Ser) c.1695A>T (p.Arg565Ser) c.1614A>T (p.Arg538Ser) c.1320A>T (p.Arg440Ser) c.1701A>T (p.Arg567Ser) | gnomAD v4 |
2 | g.48687841T>C | CA426125145 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1956A>G (p.Arg652=) c.*268A>G (n.*268A>G) c.3441+16161T>C (n.3441+16161T>C) c.*700A>G (n.*700A>G) c.1875A>G (p.Arg625=) c.276+16161T>C (n.276+16161T>C) c.*220+6383A>G (n.*220+6383A>G) c.999A>G (p.Arg333=) c.1026A>G (p.Arg342=) c.1881A>G (p.Arg627=) c.1695A>G (p.Arg565=) c.1614A>G (p.Arg538=) c.1320A>G (p.Arg440=) c.1701A>G (p.Arg567=) | |
2 | g.48687841T>G | CA346743567 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1956A>C (p.Arg652Ser) c.*268A>C (n.*268A>C) c.3441+16161T>G (n.3441+16161T>G) c.*700A>C (n.*700A>C) c.1875A>C (p.Arg625Ser) c.276+16161T>G (n.276+16161T>G) c.*220+6383A>C (n.*220+6383A>C) c.999A>C (p.Arg333Ser) c.1026A>C (p.Arg342Ser) c.1881A>C (p.Arg627Ser) c.1695A>C (p.Arg565Ser) c.1614A>C (p.Arg538Ser) c.1320A>C (p.Arg440Ser) c.1701A>C (p.Arg567Ser) | |
2 | g.48687842C>A | CA346743576 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1955G>T (p.Arg652Ile) c.*267G>T (n.*267G>T) c.3441+16162C>A (n.3441+16162C>A) c.*699G>T (n.*699G>T) c.1874G>T (p.Arg625Ile) c.276+16162C>A (n.276+16162C>A) c.*220+6382G>T (n.*220+6382G>T) c.998G>T (p.Arg333Ile) c.1025G>T (p.Arg342Ile) c.1880G>T (p.Arg627Ile) c.1694G>T (p.Arg565Ile) c.1613G>T (p.Arg538Ile) c.1319G>T (p.Arg440Ile) c.1700G>T (p.Arg567Ile) | |
2 | g.48687842C= | CA1248600865 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1955G= (p.Arg652=) c.*267G= (n.*267G=) c.3441+16162C= (n.3441+16162C=) c.*699G= (n.*699G=) c.1874G= (p.Arg625=) c.276+16162C= (n.276+16162C=) c.*220+6382G= (n.*220+6382G=) c.998G= (p.Arg333=) c.1025G= (p.Arg342=) c.1880G= (p.Arg627=) c.1694G= (p.Arg565=) c.1613G= (p.Arg538=) c.1319G= (p.Arg440=) c.1700G= (p.Arg567=) | |
2 | g.48687842C>G | CA346743571 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1955G>C (p.Arg652Thr) c.*267G>C (n.*267G>C) c.3441+16162C>G (n.3441+16162C>G) c.*699G>C (n.*699G>C) c.1874G>C (p.Arg625Thr) c.276+16162C>G (n.276+16162C>G) c.*220+6382G>C (n.*220+6382G>C) c.998G>C (p.Arg333Thr) c.1025G>C (p.Arg342Thr) c.1880G>C (p.Arg627Thr) c.1694G>C (p.Arg565Thr) c.1613G>C (p.Arg538Thr) c.1319G>C (p.Arg440Thr) c.1700G>C (p.Arg567Thr) | |
2 | g.48687842C>T | CA346743573 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1955G>A (p.Arg652Lys) c.*267G>A (n.*267G>A) c.3441+16162C>T (n.3441+16162C>T) c.*699G>A (n.*699G>A) c.1874G>A (p.Arg625Lys) c.276+16162C>T (n.276+16162C>T) c.*220+6382G>A (n.*220+6382G>A) c.998G>A (p.Arg333Lys) c.1025G>A (p.Arg342Lys) c.1880G>A (p.Arg627Lys) c.1694G>A (p.Arg565Lys) c.1613G>A (p.Arg538Lys) c.1319G>A (p.Arg440Lys) c.1700G>A (p.Arg567Lys) | dbSNP |
2 | g.48687843T>A | CA346743579 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1954A>T (p.Arg652Ter) c.*266A>T (n.*266A>T) c.3441+16163T>A (n.3441+16163T>A) c.*698A>T (n.*698A>T) c.1873A>T (p.Arg625Ter) c.276+16163T>A (n.276+16163T>A) c.*220+6381A>T (n.*220+6381A>T) c.997A>T (p.Arg333Ter) c.1024A>T (p.Arg342Ter) c.1879A>T (p.Arg627Ter) c.1693A>T (p.Arg565Ter) c.1612A>T (p.Arg538Ter) c.1318A>T (p.Arg440Ter) c.1699A>T (p.Arg567Ter) | |
2 | g.48687843T>C | CA346743581 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1954A>G (p.Arg652Gly) c.*266A>G (n.*266A>G) c.3441+16163T>C (n.3441+16163T>C) c.*698A>G (n.*698A>G) c.1873A>G (p.Arg625Gly) c.276+16163T>C (n.276+16163T>C) c.*220+6381A>G (n.*220+6381A>G) c.997A>G (p.Arg333Gly) c.1024A>G (p.Arg342Gly) c.1879A>G (p.Arg627Gly) c.1693A>G (p.Arg565Gly) c.1612A>G (p.Arg538Gly) c.1318A>G (p.Arg440Gly) c.1699A>G (p.Arg567Gly) | gnomAD v4 |
2 | g.48687843T>G | CA426125151 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1954A>C (p.Arg652=) c.*266A>C (n.*266A>C) c.3441+16163T>G (n.3441+16163T>G) c.*698A>C (n.*698A>C) c.1873A>C (p.Arg625=) c.276+16163T>G (n.276+16163T>G) c.*220+6381A>C (n.*220+6381A>C) c.997A>C (p.Arg333=) c.1024A>C (p.Arg342=) c.1879A>C (p.Arg627=) c.1693A>C (p.Arg565=) c.1612A>C (p.Arg538=) c.1318A>C (p.Arg440=) c.1699A>C (p.Arg567=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687843T= | CA1248600866 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1954A= (p.Arg652=) c.*266A= (n.*266A=) c.3441+16163T= (n.3441+16163T=) c.*698A= (n.*698A=) c.1873A= (p.Arg625=) c.276+16163T= (n.276+16163T=) c.*220+6381A= (n.*220+6381A=) c.997A= (p.Arg333=) c.1024A= (p.Arg342=) c.1879A= (p.Arg627=) c.1693A= (p.Arg565=) c.1612A= (p.Arg538=) c.1318A= (p.Arg440=) c.1699A= (p.Arg567=) | |
2 | g.48687844A= | CA1248600867 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1953T= (p.Tyr651=) c.*265T= (n.*265T=) c.3441+16164A= (n.3441+16164A=) c.*697T= (n.*697T=) c.1872T= (p.Tyr624=) c.276+16164A= (n.276+16164A=) c.*220+6380T= (n.*220+6380T=) c.996T= (p.Tyr332=) c.1023T= (p.Tyr341=) c.1878T= (p.Tyr626=) c.1692T= (p.Tyr564=) c.1611T= (p.Tyr537=) c.1317T= (p.Tyr439=) c.1698T= (p.Tyr566=) | |
2 | g.48687844A>C | CA346743584 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1953T>G (p.Tyr651Ter) c.*265T>G (n.*265T>G) c.3441+16164A>C (n.3441+16164A>C) c.*697T>G (n.*697T>G) c.1872T>G (p.Tyr624Ter) c.276+16164A>C (n.276+16164A>C) c.*220+6380T>G (n.*220+6380T>G) c.996T>G (p.Tyr332Ter) c.1023T>G (p.Tyr341Ter) c.1878T>G (p.Tyr626Ter) c.1692T>G (p.Tyr564Ter) c.1611T>G (p.Tyr537Ter) c.1317T>G (p.Tyr439Ter) c.1698T>G (p.Tyr566Ter) | |
2 | g.48687844A>G | CA1652959 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1953T>C (p.Tyr651=) c.*265T>C (n.*265T>C) c.3441+16164A>G (n.3441+16164A>G) c.*697T>C (n.*697T>C) c.1872T>C (p.Tyr624=) c.276+16164A>G (n.276+16164A>G) c.*220+6380T>C (n.*220+6380T>C) c.996T>C (p.Tyr332=) c.1023T>C (p.Tyr341=) c.1878T>C (p.Tyr626=) c.1692T>C (p.Tyr564=) c.1611T>C (p.Tyr537=) c.1317T>C (p.Tyr439=) c.1698T>C (p.Tyr566=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687844A>T | CA346743588 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1953T>A (p.Tyr651Ter) c.*265T>A (n.*265T>A) c.3441+16164A>T (n.3441+16164A>T) c.*697T>A (n.*697T>A) c.1872T>A (p.Tyr624Ter) c.276+16164A>T (n.276+16164A>T) c.*220+6380T>A (n.*220+6380T>A) c.996T>A (p.Tyr332Ter) c.1023T>A (p.Tyr341Ter) c.1878T>A (p.Tyr626Ter) c.1692T>A (p.Tyr564Ter) c.1611T>A (p.Tyr537Ter) c.1317T>A (p.Tyr439Ter) c.1698T>A (p.Tyr566Ter) | gnomAD v4 |
2 | g.48687845T>A | CA346743590 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1952A>T (p.Tyr651Phe) c.*264A>T (n.*264A>T) c.3441+16165T>A (n.3441+16165T>A) c.*696A>T (n.*696A>T) c.1871A>T (p.Tyr624Phe) c.276+16165T>A (n.276+16165T>A) c.*220+6379A>T (n.*220+6379A>T) c.995A>T (p.Tyr332Phe) c.1022A>T (p.Tyr341Phe) c.1877A>T (p.Tyr626Phe) c.1691A>T (p.Tyr564Phe) c.1610A>T (p.Tyr537Phe) c.1316A>T (p.Tyr439Phe) c.1697A>T (p.Tyr566Phe) | |
2 | g.48687845T>C | CA346743592 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1952A>G (p.Tyr651Cys) c.*264A>G (n.*264A>G) c.3441+16165T>C (n.3441+16165T>C) c.*696A>G (n.*696A>G) c.1871A>G (p.Tyr624Cys) c.276+16165T>C (n.276+16165T>C) c.*220+6379A>G (n.*220+6379A>G) c.995A>G (p.Tyr332Cys) c.1022A>G (p.Tyr341Cys) c.1877A>G (p.Tyr626Cys) c.1691A>G (p.Tyr564Cys) c.1610A>G (p.Tyr537Cys) c.1316A>G (p.Tyr439Cys) c.1697A>G (p.Tyr566Cys) | |
2 | g.48687845T>G | CA346743593 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1952A>C (p.Tyr651Ser) c.*264A>C (n.*264A>C) c.3441+16165T>G (n.3441+16165T>G) c.*696A>C (n.*696A>C) c.1871A>C (p.Tyr624Ser) c.276+16165T>G (n.276+16165T>G) c.*220+6379A>C (n.*220+6379A>C) c.995A>C (p.Tyr332Ser) c.1022A>C (p.Tyr341Ser) c.1877A>C (p.Tyr626Ser) c.1691A>C (p.Tyr564Ser) c.1610A>C (p.Tyr537Ser) c.1316A>C (p.Tyr439Ser) c.1697A>C (p.Tyr566Ser) | dbSNP gnomAD v4 |
2 | g.48687845T= | CA1248600868 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1952A= (p.Tyr651=) c.*264A= (n.*264A=) c.3441+16165T= (n.3441+16165T=) c.*696A= (n.*696A=) c.1871A= (p.Tyr624=) c.276+16165T= (n.276+16165T=) c.*220+6379A= (n.*220+6379A=) c.995A= (p.Tyr332=) c.1022A= (p.Tyr341=) c.1877A= (p.Tyr626=) c.1691A= (p.Tyr564=) c.1610A= (p.Tyr537=) c.1316A= (p.Tyr439=) c.1697A= (p.Tyr566=) | |
2 | g.48687846A= | CA1248600869 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1951T= (p.Tyr651=) c.*263T= (n.*263T=) c.3441+16166A= (n.3441+16166A=) c.*695T= (n.*695T=) c.1870T= (p.Tyr624=) c.276+16166A= (n.276+16166A=) c.*220+6378T= (n.*220+6378T=) c.994T= (p.Tyr332=) c.1021T= (p.Tyr341=) c.1876T= (p.Tyr626=) c.1690T= (p.Tyr564=) c.1609T= (p.Tyr537=) c.1315T= (p.Tyr439=) c.1696T= (p.Tyr566=) | |
2 | g.48687846A>C | CA346743594 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1951T>G (p.Tyr651Asp) c.*263T>G (n.*263T>G) c.3441+16166A>C (n.3441+16166A>C) c.*695T>G (n.*695T>G) c.1870T>G (p.Tyr624Asp) c.276+16166A>C (n.276+16166A>C) c.*220+6378T>G (n.*220+6378T>G) c.994T>G (p.Tyr332Asp) c.1021T>G (p.Tyr341Asp) c.1876T>G (p.Tyr626Asp) c.1690T>G (p.Tyr564Asp) c.1609T>G (p.Tyr537Asp) c.1315T>G (p.Tyr439Asp) c.1696T>G (p.Tyr566Asp) | |
2 | g.48687846A>G | CA346743596 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1951T>C (p.Tyr651His) c.*263T>C (n.*263T>C) c.3441+16166A>G (n.3441+16166A>G) c.*695T>C (n.*695T>C) c.1870T>C (p.Tyr624His) c.276+16166A>G (n.276+16166A>G) c.*220+6378T>C (n.*220+6378T>C) c.994T>C (p.Tyr332His) c.1021T>C (p.Tyr341His) c.1876T>C (p.Tyr626His) c.1690T>C (p.Tyr564His) c.1609T>C (p.Tyr537His) c.1315T>C (p.Tyr439His) c.1696T>C (p.Tyr566His) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687846A>T | CA346743597 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1951T>A (p.Tyr651Asn) c.*263T>A (n.*263T>A) c.3441+16166A>T (n.3441+16166A>T) c.*695T>A (n.*695T>A) c.1870T>A (p.Tyr624Asn) c.276+16166A>T (n.276+16166A>T) c.*220+6378T>A (n.*220+6378T>A) c.994T>A (p.Tyr332Asn) c.1021T>A (p.Tyr341Asn) c.1876T>A (p.Tyr626Asn) c.1690T>A (p.Tyr564Asn) c.1609T>A (p.Tyr537Asn) c.1315T>A (p.Tyr439Asn) c.1696T>A (p.Tyr566Asn) | |
2 | g.48687848dup | CA2658992078 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1951dup (p.Tyr651LeufsTer2) c.*263dup (n.*263dup) c.3441+16168dup (n.3441+16168dup) c.*695dup (n.*695dup) c.1870dup (p.Tyr624LeufsTer2) c.276+16168dup (n.276+16168dup) c.*220+6378dup (n.*220+6378dup) c.994dup (p.Tyr332LeufsTer2) c.1021dup (p.Tyr341LeufsTer2) c.1876dup (p.Tyr626LeufsTer2) c.1690dup (p.Tyr564LeufsTer2) c.1609dup (p.Tyr537LeufsTer2) c.1315dup (p.Tyr439LeufsTer2) c.1696dup (p.Tyr566LeufsTer2) | gnomAD v4 |
2 | g.48687847A>C | CA426125159 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1950T>G (p.Leu650=) c.*262T>G (n.*262T>G) c.3441+16167A>C (n.3441+16167A>C) c.*694T>G (n.*694T>G) c.1869T>G (p.Leu623=) c.276+16167A>C (n.276+16167A>C) c.*220+6377T>G (n.*220+6377T>G) c.993T>G (p.Leu331=) c.1020T>G (p.Leu340=) c.1875T>G (p.Leu625=) c.1689T>G (p.Leu563=) c.1608T>G (p.Leu536=) c.1314T>G (p.Leu438=) c.1695T>G (p.Leu565=) | |
2 | g.48687847A>G | CA426125160 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1950T>C (p.Leu650=) c.*262T>C (n.*262T>C) c.3441+16167A>G (n.3441+16167A>G) c.*694T>C (n.*694T>C) c.1869T>C (p.Leu623=) c.276+16167A>G (n.276+16167A>G) c.*220+6377T>C (n.*220+6377T>C) c.993T>C (p.Leu331=) c.1020T>C (p.Leu340=) c.1875T>C (p.Leu625=) c.1689T>C (p.Leu563=) c.1608T>C (p.Leu536=) c.1314T>C (p.Leu438=) c.1695T>C (p.Leu565=) | |
2 | g.48687847A>T | CA426125161 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1950T>A (p.Leu650=) c.*262T>A (n.*262T>A) c.3441+16167A>T (n.3441+16167A>T) c.*694T>A (n.*694T>A) c.1869T>A (p.Leu623=) c.276+16167A>T (n.276+16167A>T) c.*220+6377T>A (n.*220+6377T>A) c.993T>A (p.Leu331=) c.1020T>A (p.Leu340=) c.1875T>A (p.Leu625=) c.1689T>A (p.Leu563=) c.1608T>A (p.Leu536=) c.1314T>A (p.Leu438=) c.1695T>A (p.Leu565=) | gnomAD v4 |
2 | g.48687848A>C | CA346743605 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1949T>G (p.Leu650Arg) c.*261T>G (n.*261T>G) c.3441+16168A>C (n.3441+16168A>C) c.*693T>G (n.*693T>G) c.1868T>G (p.Leu623Arg) c.276+16168A>C (n.276+16168A>C) c.*220+6376T>G (n.*220+6376T>G) c.992T>G (p.Leu331Arg) c.1019T>G (p.Leu340Arg) c.1874T>G (p.Leu625Arg) c.1688T>G (p.Leu563Arg) c.1607T>G (p.Leu536Arg) c.1313T>G (p.Leu438Arg) c.1694T>G (p.Leu565Arg) | |
2 | g.48687848A>G | CA346743603 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1949T>C (p.Leu650Pro) c.*261T>C (n.*261T>C) c.3441+16168A>G (n.3441+16168A>G) c.*693T>C (n.*693T>C) c.1868T>C (p.Leu623Pro) c.276+16168A>G (n.276+16168A>G) c.*220+6376T>C (n.*220+6376T>C) c.992T>C (p.Leu331Pro) c.1019T>C (p.Leu340Pro) c.1874T>C (p.Leu625Pro) c.1688T>C (p.Leu563Pro) c.1607T>C (p.Leu536Pro) c.1313T>C (p.Leu438Pro) c.1694T>C (p.Leu565Pro) | |
2 | g.48687848A>T | CA346743601 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1949T>A (p.Leu650His) c.*261T>A (n.*261T>A) c.3441+16168A>T (n.3441+16168A>T) c.*693T>A (n.*693T>A) c.1868T>A (p.Leu623His) c.276+16168A>T (n.276+16168A>T) c.*220+6376T>A (n.*220+6376T>A) c.992T>A (p.Leu331His) c.1019T>A (p.Leu340His) c.1874T>A (p.Leu625His) c.1688T>A (p.Leu563His) c.1607T>A (p.Leu536His) c.1313T>A (p.Leu438His) c.1694T>A (p.Leu565His) | COSMIC |
2 | g.48687849G>A | CA346743609 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1948C>T (p.Leu650Phe) c.*260C>T (n.*260C>T) c.3441+16169G>A (n.3441+16169G>A) c.*692C>T (n.*692C>T) c.1867C>T (p.Leu623Phe) c.276+16169G>A (n.276+16169G>A) c.*220+6375C>T (n.*220+6375C>T) c.991C>T (p.Leu331Phe) c.1018C>T (p.Leu340Phe) c.1873C>T (p.Leu625Phe) c.1687C>T (p.Leu563Phe) c.1606C>T (p.Leu536Phe) c.1312C>T (p.Leu438Phe) c.1693C>T (p.Leu565Phe) | |
2 | g.48687849G>C | CA346743611 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1948C>G (p.Leu650Val) c.*260C>G (n.*260C>G) c.3441+16169G>C (n.3441+16169G>C) c.*692C>G (n.*692C>G) c.1867C>G (p.Leu623Val) c.276+16169G>C (n.276+16169G>C) c.*220+6375C>G (n.*220+6375C>G) c.991C>G (p.Leu331Val) c.1018C>G (p.Leu340Val) c.1873C>G (p.Leu625Val) c.1687C>G (p.Leu563Val) c.1606C>G (p.Leu536Val) c.1312C>G (p.Leu438Val) c.1693C>G (p.Leu565Val) | |
2 | g.48687849G= | CA1248600870 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1948C= (p.Leu650=) c.*260C= (n.*260C=) c.3441+16169G= (n.3441+16169G=) c.*692C= (n.*692C=) c.1867C= (p.Leu623=) c.276+16169G= (n.276+16169G=) c.*220+6375C= (n.*220+6375C=) c.991C= (p.Leu331=) c.1018C= (p.Leu340=) c.1873C= (p.Leu625=) c.1687C= (p.Leu563=) c.1606C= (p.Leu536=) c.1312C= (p.Leu438=) c.1693C= (p.Leu565=) | |
2 | g.48687849G>T | CA1652960 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1948C>A (p.Leu650Ile) c.*260C>A (n.*260C>A) c.3441+16169G>T (n.3441+16169G>T) c.*692C>A (n.*692C>A) c.1867C>A (p.Leu623Ile) c.276+16169G>T (n.276+16169G>T) c.*220+6375C>A (n.*220+6375C>A) c.991C>A (p.Leu331Ile) c.1018C>A (p.Leu340Ile) c.1873C>A (p.Leu625Ile) c.1687C>A (p.Leu563Ile) c.1606C>A (p.Leu536Ile) c.1312C>A (p.Leu438Ile) c.1693C>A (p.Leu565Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687849_48687850delinsGT | CA1248600871 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1947_1948delinsAC (p.Glu649=) c.*259_*260delinsAC (n.*259_*260delinsAC) c.3441+16169_3441+16170delinsGT (n.3441+16169_3441+16170delinsGT) c.*691_*692delinsAC (n.*691_*692delinsAC) c.1866_1867delinsAC (p.Glu622=) c.276+16169_276+16170delinsGT (n.276+16169_276+16170delinsGT) c.*220+6374_*220+6375delinsAC (n.*220+6374_*220+6375delinsAC) c.990_991delinsAC (p.Glu330=) c.1017_1018delinsAC (p.Glu339=) c.1872_1873delinsAC (p.Glu624=) c.1686_1687delinsAC (p.Glu562=) c.1605_1606delinsAC (p.Glu535=) c.1311_1312delinsAC (p.Glu437=) c.1692_1693delinsAC (p.Glu564=) | |
2 | g.48687850T>A | CA346743614 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1947A>T (p.Glu649Asp) c.*259A>T (n.*259A>T) c.3441+16170T>A (n.3441+16170T>A) c.*691A>T (n.*691A>T) c.1866A>T (p.Glu622Asp) c.276+16170T>A (n.276+16170T>A) c.*220+6374A>T (n.*220+6374A>T) c.990A>T (p.Glu330Asp) c.1017A>T (p.Glu339Asp) c.1872A>T (p.Glu624Asp) c.1686A>T (p.Glu562Asp) c.1605A>T (p.Glu535Asp) c.1311A>T (p.Glu437Asp) c.1692A>T (p.Glu564Asp) | |
2 | g.48687850T>C | CA426125167 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1947A>G (p.Glu649=) c.*259A>G (n.*259A>G) c.3441+16170T>C (n.3441+16170T>C) c.*691A>G (n.*691A>G) c.1866A>G (p.Glu622=) c.276+16170T>C (n.276+16170T>C) c.*220+6374A>G (n.*220+6374A>G) c.990A>G (p.Glu330=) c.1017A>G (p.Glu339=) c.1872A>G (p.Glu624=) c.1686A>G (p.Glu562=) c.1605A>G (p.Glu535=) c.1311A>G (p.Glu437=) c.1692A>G (p.Glu564=) | |
2 | g.48687850T>G | CA346743617 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1947A>C (p.Glu649Asp) c.*259A>C (n.*259A>C) c.3441+16170T>G (n.3441+16170T>G) c.*691A>C (n.*691A>C) c.1866A>C (p.Glu622Asp) c.276+16170T>G (n.276+16170T>G) c.*220+6374A>C (n.*220+6374A>C) c.990A>C (p.Glu330Asp) c.1017A>C (p.Glu339Asp) c.1872A>C (p.Glu624Asp) c.1686A>C (p.Glu562Asp) c.1605A>C (p.Glu535Asp) c.1311A>C (p.Glu437Asp) c.1692A>C (p.Glu564Asp) | |
2 | g.48687851del | CA532706157 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1947del (p.Glu649AspfsTer30) c.*259del (n.*259del) c.3441+16171del (n.3441+16171del) c.*691del (n.*691del) c.1866del (p.Glu622AspfsTer30) c.276+16171del (n.276+16171del) c.*220+6374del (n.*220+6374del) c.990del (p.Glu330AspfsTer30) c.1017del (p.Glu339AspfsTer30) c.1872del (p.Glu624AspfsTer30) c.1686del (p.Glu562AspfsTer30) c.1605del (p.Glu535AspfsTer30) c.1311del (p.Glu437AspfsTer30) c.1692del (p.Glu564AspfsTer30) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687851T>A | CA346743625 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1946A>T (p.Glu649Val) c.*258A>T (n.*258A>T) c.3441+16171T>A (n.3441+16171T>A) c.*690A>T (n.*690A>T) c.1865A>T (p.Glu622Val) c.276+16171T>A (n.276+16171T>A) c.*220+6373A>T (n.*220+6373A>T) c.989A>T (p.Glu330Val) c.1016A>T (p.Glu339Val) c.1871A>T (p.Glu624Val) c.1685A>T (p.Glu562Val) c.1604A>T (p.Glu535Val) c.1310A>T (p.Glu437Val) c.1691A>T (p.Glu564Val) | |
2 | g.48687851T>C | CA346743622 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1946A>G (p.Glu649Gly) c.*258A>G (n.*258A>G) c.3441+16171T>C (n.3441+16171T>C) c.*690A>G (n.*690A>G) c.1865A>G (p.Glu622Gly) c.276+16171T>C (n.276+16171T>C) c.*220+6373A>G (n.*220+6373A>G) c.989A>G (p.Glu330Gly) c.1016A>G (p.Glu339Gly) c.1871A>G (p.Glu624Gly) c.1685A>G (p.Glu562Gly) c.1604A>G (p.Glu535Gly) c.1310A>G (p.Glu437Gly) c.1691A>G (p.Glu564Gly) | |
2 | g.48687851T>G | CA346743620 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1946A>C (p.Glu649Ala) c.*258A>C (n.*258A>C) c.3441+16171T>G (n.3441+16171T>G) c.*690A>C (n.*690A>C) c.1865A>C (p.Glu622Ala) c.276+16171T>G (n.276+16171T>G) c.*220+6373A>C (n.*220+6373A>C) c.989A>C (p.Glu330Ala) c.1016A>C (p.Glu339Ala) c.1871A>C (p.Glu624Ala) c.1685A>C (p.Glu562Ala) c.1604A>C (p.Glu535Ala) c.1310A>C (p.Glu437Ala) c.1691A>C (p.Glu564Ala) | |
2 | g.48687852C>A | CA346743629 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1945G>T (p.Glu649Ter) c.*257G>T (n.*257G>T) c.3441+16172C>A (n.3441+16172C>A) c.*689G>T (n.*689G>T) c.1864G>T (p.Glu622Ter) c.276+16172C>A (n.276+16172C>A) c.*220+6372G>T (n.*220+6372G>T) c.988G>T (p.Glu330Ter) c.1015G>T (p.Glu339Ter) c.1870G>T (p.Glu624Ter) c.1684G>T (p.Glu562Ter) c.1603G>T (p.Glu535Ter) c.1309G>T (p.Glu437Ter) c.1690G>T (p.Glu564Ter) | |
2 | g.48687852C= | CA1248600872 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1945G= (p.Glu649=) c.*257G= (n.*257G=) c.3441+16172C= (n.3441+16172C=) c.*689G= (n.*689G=) c.1864G= (p.Glu622=) c.276+16172C= (n.276+16172C=) c.*220+6372G= (n.*220+6372G=) c.988G= (p.Glu330=) c.1015G= (p.Glu339=) c.1870G= (p.Glu624=) c.1684G= (p.Glu562=) c.1603G= (p.Glu535=) c.1309G= (p.Glu437=) c.1690G= (p.Glu564=) | |
2 | g.48687852C>G | CA346743632 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1945G>C (p.Glu649Gln) c.*257G>C (n.*257G>C) c.3441+16172C>G (n.3441+16172C>G) c.*689G>C (n.*689G>C) c.1864G>C (p.Glu622Gln) c.276+16172C>G (n.276+16172C>G) c.*220+6372G>C (n.*220+6372G>C) c.988G>C (p.Glu330Gln) c.1015G>C (p.Glu339Gln) c.1870G>C (p.Glu624Gln) c.1684G>C (p.Glu562Gln) c.1603G>C (p.Glu535Gln) c.1309G>C (p.Glu437Gln) c.1690G>C (p.Glu564Gln) | |
2 | g.48687852C>T | CA346743634 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1945G>A (p.Glu649Lys) c.*257G>A (n.*257G>A) c.3441+16172C>T (n.3441+16172C>T) c.*689G>A (n.*689G>A) c.1864G>A (p.Glu622Lys) c.276+16172C>T (n.276+16172C>T) c.*220+6372G>A (n.*220+6372G>A) c.988G>A (p.Glu330Lys) c.1015G>A (p.Glu339Lys) c.1870G>A (p.Glu624Lys) c.1684G>A (p.Glu562Lys) c.1603G>A (p.Glu535Lys) c.1309G>A (p.Glu437Lys) c.1690G>A (p.Glu564Lys) | dbSNP |
2 | g.48687853A>C | CA426125176 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1944T>G (p.Ala648=) c.*256T>G (n.*256T>G) c.3441+16173A>C (n.3441+16173A>C) c.*688T>G (n.*688T>G) c.1863T>G (p.Ala621=) c.276+16173A>C (n.276+16173A>C) c.*220+6371T>G (n.*220+6371T>G) c.987T>G (p.Ala329=) c.1014T>G (p.Ala338=) c.1869T>G (p.Ala623=) c.1683T>G (p.Ala561=) c.1602T>G (p.Ala534=) c.1308T>G (p.Ala436=) c.1689T>G (p.Ala563=) | |
2 | g.48687853A>G | CA426125177 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1944T>C (p.Ala648=) c.*256T>C (n.*256T>C) c.3441+16173A>G (n.3441+16173A>G) c.*688T>C (n.*688T>C) c.1863T>C (p.Ala621=) c.276+16173A>G (n.276+16173A>G) c.*220+6371T>C (n.*220+6371T>C) c.987T>C (p.Ala329=) c.1014T>C (p.Ala338=) c.1869T>C (p.Ala623=) c.1683T>C (p.Ala561=) c.1602T>C (p.Ala534=) c.1308T>C (p.Ala436=) c.1689T>C (p.Ala563=) | gnomAD v4 |
2 | g.48687853A>T | CA426125178 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1944T>A (p.Ala648=) c.*256T>A (n.*256T>A) c.3441+16173A>T (n.3441+16173A>T) c.*688T>A (n.*688T>A) c.1863T>A (p.Ala621=) c.276+16173A>T (n.276+16173A>T) c.*220+6371T>A (n.*220+6371T>A) c.987T>A (p.Ala329=) c.1014T>A (p.Ala338=) c.1869T>A (p.Ala623=) c.1683T>A (p.Ala561=) c.1602T>A (p.Ala534=) c.1308T>A (p.Ala436=) c.1689T>A (p.Ala563=) | |
2 | g.48687854G>A | CA346743636 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1943C>T (p.Ala648Val) c.*255C>T (n.*255C>T) c.3441+16174G>A (n.3441+16174G>A) c.*687C>T (n.*687C>T) c.1862C>T (p.Ala621Val) c.276+16174G>A (n.276+16174G>A) c.*220+6370C>T (n.*220+6370C>T) c.986C>T (p.Ala329Val) c.1013C>T (p.Ala338Val) c.1868C>T (p.Ala623Val) c.1682C>T (p.Ala561Val) c.1601C>T (p.Ala534Val) c.1307C>T (p.Ala436Val) c.1688C>T (p.Ala563Val) | |
2 | g.48687854G>C | CA346743639 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1943C>G (p.Ala648Gly) c.*255C>G (n.*255C>G) c.3441+16174G>C (n.3441+16174G>C) c.*687C>G (n.*687C>G) c.1862C>G (p.Ala621Gly) c.276+16174G>C (n.276+16174G>C) c.*220+6370C>G (n.*220+6370C>G) c.986C>G (p.Ala329Gly) c.1013C>G (p.Ala338Gly) c.1868C>G (p.Ala623Gly) c.1682C>G (p.Ala561Gly) c.1601C>G (p.Ala534Gly) c.1307C>G (p.Ala436Gly) c.1688C>G (p.Ala563Gly) | dbSNP gnomAD v4 |
2 | g.48687854G= | CA1248600873 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1943C= (p.Ala648=) c.*255C= (n.*255C=) c.3441+16174G= (n.3441+16174G=) c.*687C= (n.*687C=) c.1862C= (p.Ala621=) c.276+16174G= (n.276+16174G=) c.*220+6370C= (n.*220+6370C=) c.986C= (p.Ala329=) c.1013C= (p.Ala338=) c.1868C= (p.Ala623=) c.1682C= (p.Ala561=) c.1601C= (p.Ala534=) c.1307C= (p.Ala436=) c.1688C= (p.Ala563=) | |
2 | g.48687854G>T | CA1652961 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1943C>A (p.Ala648Asp) c.*255C>A (n.*255C>A) c.3441+16174G>T (n.3441+16174G>T) c.*687C>A (n.*687C>A) c.1862C>A (p.Ala621Asp) c.276+16174G>T (n.276+16174G>T) c.*220+6370C>A (n.*220+6370C>A) c.986C>A (p.Ala329Asp) c.1013C>A (p.Ala338Asp) c.1868C>A (p.Ala623Asp) c.1682C>A (p.Ala561Asp) c.1601C>A (p.Ala534Asp) c.1307C>A (p.Ala436Asp) c.1688C>A (p.Ala563Asp) | dbSNP ExAC gnomAD v2 |
2 | g.48687855C>A | CA346743643 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1942G>T (p.Ala648Ser) c.*254G>T (n.*254G>T) c.3441+16175C>A (n.3441+16175C>A) c.*686G>T (n.*686G>T) c.1861G>T (p.Ala621Ser) c.276+16175C>A (n.276+16175C>A) c.*220+6369G>T (n.*220+6369G>T) c.985G>T (p.Ala329Ser) c.1012G>T (p.Ala338Ser) c.1867G>T (p.Ala623Ser) c.1681G>T (p.Ala561Ser) c.1600G>T (p.Ala534Ser) c.1306G>T (p.Ala436Ser) c.1687G>T (p.Ala563Ser) | |
2 | g.48687855C>G | CA346743648 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1942G>C (p.Ala648Pro) c.*254G>C (n.*254G>C) c.3441+16175C>G (n.3441+16175C>G) c.*686G>C (n.*686G>C) c.1861G>C (p.Ala621Pro) c.276+16175C>G (n.276+16175C>G) c.*220+6369G>C (n.*220+6369G>C) c.985G>C (p.Ala329Pro) c.1012G>C (p.Ala338Pro) c.1867G>C (p.Ala623Pro) c.1681G>C (p.Ala561Pro) c.1600G>C (p.Ala534Pro) c.1306G>C (p.Ala436Pro) c.1687G>C (p.Ala563Pro) | |
2 | g.48687855C>T | CA346743645 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1942G>A (p.Ala648Thr) c.*254G>A (n.*254G>A) c.3441+16175C>T (n.3441+16175C>T) c.*686G>A (n.*686G>A) c.1861G>A (p.Ala621Thr) c.276+16175C>T (n.276+16175C>T) c.*220+6369G>A (n.*220+6369G>A) c.985G>A (p.Ala329Thr) c.1012G>A (p.Ala338Thr) c.1867G>A (p.Ala623Thr) c.1681G>A (p.Ala561Thr) c.1600G>A (p.Ala534Thr) c.1306G>A (p.Ala436Thr) c.1687G>A (p.Ala563Thr) | |
2 | g.48687856C>A | CA426125182 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1941G>T (p.Arg647=) c.*253G>T (n.*253G>T) c.3441+16176C>A (n.3441+16176C>A) c.*685G>T (n.*685G>T) c.1860G>T (p.Arg620=) c.276+16176C>A (n.276+16176C>A) c.*220+6368G>T (n.*220+6368G>T) c.984G>T (p.Arg328=) c.1011G>T (p.Arg337=) c.1866G>T (p.Arg622=) c.1680G>T (p.Arg560=) c.1599G>T (p.Arg533=) c.1305G>T (p.Arg435=) c.1686G>T (p.Arg562=) | |
2 | g.48687856C= | CA1248600874 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1941G= (p.Arg647=) c.*253G= (n.*253G=) c.3441+16176C= (n.3441+16176C=) c.*685G= (n.*685G=) c.1860G= (p.Arg620=) c.276+16176C= (n.276+16176C=) c.*220+6368G= (n.*220+6368G=) c.984G= (p.Arg328=) c.1011G= (p.Arg337=) c.1866G= (p.Arg622=) c.1680G= (p.Arg560=) c.1599G= (p.Arg533=) c.1305G= (p.Arg435=) c.1686G= (p.Arg562=) | |
2 | g.48687856C>G | CA426125184 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1941G>C (p.Arg647=) c.*253G>C (n.*253G>C) c.3441+16176C>G (n.3441+16176C>G) c.*685G>C (n.*685G>C) c.1860G>C (p.Arg620=) c.276+16176C>G (n.276+16176C>G) c.*220+6368G>C (n.*220+6368G>C) c.984G>C (p.Arg328=) c.1011G>C (p.Arg337=) c.1866G>C (p.Arg622=) c.1680G>C (p.Arg560=) c.1599G>C (p.Arg533=) c.1305G>C (p.Arg435=) c.1686G>C (p.Arg562=) | dbSNP |
2 | g.48687856C>T | CA426125185 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1941G>A (p.Arg647=) c.*253G>A (n.*253G>A) c.3441+16176C>T (n.3441+16176C>T) c.*685G>A (n.*685G>A) c.1860G>A (p.Arg620=) c.276+16176C>T (n.276+16176C>T) c.*220+6368G>A (n.*220+6368G>A) c.984G>A (p.Arg328=) c.1011G>A (p.Arg337=) c.1866G>A (p.Arg622=) c.1680G>A (p.Arg560=) c.1599G>A (p.Arg533=) c.1305G>A (p.Arg435=) c.1686G>A (p.Arg562=) | COSMIC |
2 | g.48687857C>A | CA346743651 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1940G>T (p.Arg647Leu) c.*252G>T (n.*252G>T) c.3441+16177C>A (n.3441+16177C>A) c.*684G>T (n.*684G>T) c.1859G>T (p.Arg620Leu) c.276+16177C>A (n.276+16177C>A) c.*220+6367G>T (n.*220+6367G>T) c.983G>T (p.Arg328Leu) c.1010G>T (p.Arg337Leu) c.1865G>T (p.Arg622Leu) c.1679G>T (p.Arg560Leu) c.1598G>T (p.Arg533Leu) c.1304G>T (p.Arg435Leu) c.1685G>T (p.Arg562Leu) | |
2 | g.48687857C= | CA1248600875 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1940G= (p.Arg647=) c.*252G= (n.*252G=) c.3441+16177C= (n.3441+16177C=) c.*684G= (n.*684G=) c.1859G= (p.Arg620=) c.276+16177C= (n.276+16177C=) c.*220+6367G= (n.*220+6367G=) c.983G= (p.Arg328=) c.1010G= (p.Arg337=) c.1865G= (p.Arg622=) c.1679G= (p.Arg560=) c.1598G= (p.Arg533=) c.1304G= (p.Arg435=) c.1685G= (p.Arg562=) | |
2 | g.48687857C>G | CA1652963 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1940G>C (p.Arg647Pro) c.*252G>C (n.*252G>C) c.3441+16177C>G (n.3441+16177C>G) c.*684G>C (n.*684G>C) c.1859G>C (p.Arg620Pro) c.276+16177C>G (n.276+16177C>G) c.*220+6367G>C (n.*220+6367G>C) c.983G>C (p.Arg328Pro) c.1010G>C (p.Arg337Pro) c.1865G>C (p.Arg622Pro) c.1679G>C (p.Arg560Pro) c.1598G>C (p.Arg533Pro) c.1304G>C (p.Arg435Pro) c.1685G>C (p.Arg562Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687857C>T | CA1652962 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1940G>A (p.Arg647Gln) c.*252G>A (n.*252G>A) c.3441+16177C>T (n.3441+16177C>T) c.*684G>A (n.*684G>A) c.1859G>A (p.Arg620Gln) c.276+16177C>T (n.276+16177C>T) c.*220+6367G>A (n.*220+6367G>A) c.983G>A (p.Arg328Gln) c.1010G>A (p.Arg337Gln) c.1865G>A (p.Arg622Gln) c.1679G>A (p.Arg560Gln) c.1598G>A (p.Arg533Gln) c.1304G>A (p.Arg435Gln) c.1685G>A (p.Arg562Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687858G>A | CA1652964 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1939C>T (p.Arg647Trp) c.*251C>T (n.*251C>T) c.3441+16178G>A (n.3441+16178G>A) c.*683C>T (n.*683C>T) c.1858C>T (p.Arg620Trp) c.276+16178G>A (n.276+16178G>A) c.*220+6366C>T (n.*220+6366C>T) c.982C>T (p.Arg328Trp) c.1009C>T (p.Arg337Trp) c.1864C>T (p.Arg622Trp) c.1678C>T (p.Arg560Trp) c.1597C>T (p.Arg533Trp) c.1303C>T (p.Arg435Trp) c.1684C>T (p.Arg562Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.48687858G>C | CA346743654 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1939C>G (p.Arg647Gly) c.*251C>G (n.*251C>G) c.3441+16178G>C (n.3441+16178G>C) c.*683C>G (n.*683C>G) c.1858C>G (p.Arg620Gly) c.276+16178G>C (n.276+16178G>C) c.*220+6366C>G (n.*220+6366C>G) c.982C>G (p.Arg328Gly) c.1009C>G (p.Arg337Gly) c.1864C>G (p.Arg622Gly) c.1678C>G (p.Arg560Gly) c.1597C>G (p.Arg533Gly) c.1303C>G (p.Arg435Gly) c.1684C>G (p.Arg562Gly) | |
2 | g.48687858G= | CA1248600876 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1939C= (p.Arg647=) c.*251C= (n.*251C=) c.3441+16178G= (n.3441+16178G=) c.*683C= (n.*683C=) c.1858C= (p.Arg620=) c.276+16178G= (n.276+16178G=) c.*220+6366C= (n.*220+6366C=) c.982C= (p.Arg328=) c.1009C= (p.Arg337=) c.1864C= (p.Arg622=) c.1678C= (p.Arg560=) c.1597C= (p.Arg533=) c.1303C= (p.Arg435=) c.1684C= (p.Arg562=) | |
2 | g.48687858G>T | CA426125191 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1939C>A (p.Arg647=) c.*251C>A (n.*251C>A) c.3441+16178G>T (n.3441+16178G>T) c.*683C>A (n.*683C>A) c.1858C>A (p.Arg620=) c.276+16178G>T (n.276+16178G>T) c.*220+6366C>A (n.*220+6366C>A) c.982C>A (p.Arg328=) c.1009C>A (p.Arg337=) c.1864C>A (p.Arg622=) c.1678C>A (p.Arg560=) c.1597C>A (p.Arg533=) c.1303C>A (p.Arg435=) c.1684C>A (p.Arg562=) | gnomAD v4 |
2 | g.48687859A= | CA1248600877 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1938T= (p.Arg646=) c.*250T= (n.*250T=) c.3441+16179A= (n.3441+16179A=) c.*682T= (n.*682T=) c.1857T= (p.Arg619=) c.276+16179A= (n.276+16179A=) c.*220+6365T= (n.*220+6365T=) c.981T= (p.Arg327=) c.1008T= (p.Arg336=) c.1863T= (p.Arg621=) c.1677T= (p.Arg559=) c.1596T= (p.Arg532=) c.1302T= (p.Arg434=) c.1683T= (p.Arg561=) | |
2 | g.48687859A>C | CA426125197 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1938T>G (p.Arg646=) c.*250T>G (n.*250T>G) c.3441+16179A>C (n.3441+16179A>C) c.*682T>G (n.*682T>G) c.1857T>G (p.Arg619=) c.276+16179A>C (n.276+16179A>C) c.*220+6365T>G (n.*220+6365T>G) c.981T>G (p.Arg327=) c.1008T>G (p.Arg336=) c.1863T>G (p.Arg621=) c.1677T>G (p.Arg559=) c.1596T>G (p.Arg532=) c.1302T>G (p.Arg434=) c.1683T>G (p.Arg561=) | |
2 | g.48687859A>G | CA426125194 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1938T>C (p.Arg646=) c.*250T>C (n.*250T>C) c.3441+16179A>G (n.3441+16179A>G) c.*682T>C (n.*682T>C) c.1857T>C (p.Arg619=) c.276+16179A>G (n.276+16179A>G) c.*220+6365T>C (n.*220+6365T>C) c.981T>C (p.Arg327=) c.1008T>C (p.Arg336=) c.1863T>C (p.Arg621=) c.1677T>C (p.Arg559=) c.1596T>C (p.Arg532=) c.1302T>C (p.Arg434=) c.1683T>C (p.Arg561=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687859A>T | CA426125195 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1938T>A (p.Arg646=) c.*250T>A (n.*250T>A) c.3441+16179A>T (n.3441+16179A>T) c.*682T>A (n.*682T>A) c.1857T>A (p.Arg619=) c.276+16179A>T (n.276+16179A>T) c.*220+6365T>A (n.*220+6365T>A) c.981T>A (p.Arg327=) c.1008T>A (p.Arg336=) c.1863T>A (p.Arg621=) c.1677T>A (p.Arg559=) c.1596T>A (p.Arg532=) c.1302T>A (p.Arg434=) c.1683T>A (p.Arg561=) | |
2 | g.48687860C>A | CA46752545 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1937G>T (p.Arg646Leu) c.*249G>T (n.*249G>T) c.3441+16180C>A (n.3441+16180C>A) c.*681G>T (n.*681G>T) c.1856G>T (p.Arg619Leu) c.276+16180C>A (n.276+16180C>A) c.*220+6364G>T (n.*220+6364G>T) c.980G>T (p.Arg327Leu) c.1007G>T (p.Arg336Leu) c.1862G>T (p.Arg621Leu) c.1676G>T (p.Arg559Leu) c.1595G>T (p.Arg532Leu) c.1301G>T (p.Arg434Leu) c.1682G>T (p.Arg561Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687860C= | CA1248600878 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1937G= (p.Arg646=) c.*249G= (n.*249G=) c.3441+16180C= (n.3441+16180C=) c.*681G= (n.*681G=) c.1856G= (p.Arg619=) c.276+16180C= (n.276+16180C=) c.*220+6364G= (n.*220+6364G=) c.980G= (p.Arg327=) c.1007G= (p.Arg336=) c.1862G= (p.Arg621=) c.1676G= (p.Arg559=) c.1595G= (p.Arg532=) c.1301G= (p.Arg434=) c.1682G= (p.Arg561=) | |
2 | g.48687860C>G | CA346743660 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1937G>C (p.Arg646Pro) c.*249G>C (n.*249G>C) c.3441+16180C>G (n.3441+16180C>G) c.*681G>C (n.*681G>C) c.1856G>C (p.Arg619Pro) c.276+16180C>G (n.276+16180C>G) c.*220+6364G>C (n.*220+6364G>C) c.980G>C (p.Arg327Pro) c.1007G>C (p.Arg336Pro) c.1862G>C (p.Arg621Pro) c.1676G>C (p.Arg559Pro) c.1595G>C (p.Arg532Pro) c.1301G>C (p.Arg434Pro) c.1682G>C (p.Arg561Pro) | |
2 | g.48687860C>T | CA1652965 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1937G>A (p.Arg646His) c.*249G>A (n.*249G>A) c.3441+16180C>T (n.3441+16180C>T) c.*681G>A (n.*681G>A) c.1856G>A (p.Arg619His) c.276+16180C>T (n.276+16180C>T) c.*220+6364G>A (n.*220+6364G>A) c.980G>A (p.Arg327His) c.1007G>A (p.Arg336His) c.1862G>A (p.Arg621His) c.1676G>A (p.Arg559His) c.1595G>A (p.Arg532His) c.1301G>A (p.Arg434His) c.1682G>A (p.Arg561His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687861G>A | CA1652966 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1936C>T (p.Arg646Cys) c.*248C>T (n.*248C>T) c.3441+16181G>A (n.3441+16181G>A) c.*680C>T (n.*680C>T) c.1855C>T (p.Arg619Cys) c.276+16181G>A (n.276+16181G>A) c.*220+6363C>T (n.*220+6363C>T) c.979C>T (p.Arg327Cys) c.1006C>T (p.Arg336Cys) c.1861C>T (p.Arg621Cys) c.1675C>T (p.Arg559Cys) c.1594C>T (p.Arg532Cys) c.1300C>T (p.Arg434Cys) c.1681C>T (p.Arg561Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687861G>C | CA346743664 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1936C>G (p.Arg646Gly) c.*248C>G (n.*248C>G) c.3441+16181G>C (n.3441+16181G>C) c.*680C>G (n.*680C>G) c.1855C>G (p.Arg619Gly) c.276+16181G>C (n.276+16181G>C) c.*220+6363C>G (n.*220+6363C>G) c.979C>G (p.Arg327Gly) c.1006C>G (p.Arg336Gly) c.1861C>G (p.Arg621Gly) c.1675C>G (p.Arg559Gly) c.1594C>G (p.Arg532Gly) c.1300C>G (p.Arg434Gly) c.1681C>G (p.Arg561Gly) | |
2 | g.48687861G= | CA1248600879 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1936C= (p.Arg646=) c.*248C= (n.*248C=) c.3441+16181G= (n.3441+16181G=) c.*680C= (n.*680C=) c.1855C= (p.Arg619=) c.276+16181G= (n.276+16181G=) c.*220+6363C= (n.*220+6363C=) c.979C= (p.Arg327=) c.1006C= (p.Arg336=) c.1861C= (p.Arg621=) c.1675C= (p.Arg559=) c.1594C= (p.Arg532=) c.1300C= (p.Arg434=) c.1681C= (p.Arg561=) | |
2 | g.48687861G>T | CA346743666 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1936C>A (p.Arg646Ser) c.*248C>A (n.*248C>A) c.3441+16181G>T (n.3441+16181G>T) c.*680C>A (n.*680C>A) c.1855C>A (p.Arg619Ser) c.276+16181G>T (n.276+16181G>T) c.*220+6363C>A (n.*220+6363C>A) c.979C>A (p.Arg327Ser) c.1006C>A (p.Arg336Ser) c.1861C>A (p.Arg621Ser) c.1675C>A (p.Arg559Ser) c.1594C>A (p.Arg532Ser) c.1300C>A (p.Arg434Ser) c.1681C>A (p.Arg561Ser) | |
2 | g.48687862T>A | CA346743671 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1935A>T (p.Lys645Asn) c.*247A>T (n.*247A>T) c.3441+16182T>A (n.3441+16182T>A) c.*679A>T (n.*679A>T) c.1854A>T (p.Lys618Asn) c.276+16182T>A (n.276+16182T>A) c.*220+6362A>T (n.*220+6362A>T) c.978A>T (p.Lys326Asn) c.1005A>T (p.Lys335Asn) c.1860A>T (p.Lys620Asn) c.1674A>T (p.Lys558Asn) c.1593A>T (p.Lys531Asn) c.1299A>T (p.Lys433Asn) c.1680A>T (p.Lys560Asn) | |
2 | g.48687862T>C | CA426125208 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1935A>G (p.Lys645=) c.*247A>G (n.*247A>G) c.3441+16182T>C (n.3441+16182T>C) c.*679A>G (n.*679A>G) c.1854A>G (p.Lys618=) c.276+16182T>C (n.276+16182T>C) c.*220+6362A>G (n.*220+6362A>G) c.978A>G (p.Lys326=) c.1005A>G (p.Lys335=) c.1860A>G (p.Lys620=) c.1674A>G (p.Lys558=) c.1593A>G (p.Lys531=) c.1299A>G (p.Lys433=) c.1680A>G (p.Lys560=) | |
2 | g.48687862T>G | CA346743669 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1935A>C (p.Lys645Asn) c.*247A>C (n.*247A>C) c.3441+16182T>G (n.3441+16182T>G) c.*679A>C (n.*679A>C) c.1854A>C (p.Lys618Asn) c.276+16182T>G (n.276+16182T>G) c.*220+6362A>C (n.*220+6362A>C) c.978A>C (p.Lys326Asn) c.1005A>C (p.Lys335Asn) c.1860A>C (p.Lys620Asn) c.1674A>C (p.Lys558Asn) c.1593A>C (p.Lys531Asn) c.1299A>C (p.Lys433Asn) c.1680A>C (p.Lys560Asn) | |
2 | g.48687863T>A | CA346743673 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1934A>T (p.Lys645Ile) c.*246A>T (n.*246A>T) c.3441+16183T>A (n.3441+16183T>A) c.*678A>T (n.*678A>T) c.1853A>T (p.Lys618Ile) c.276+16183T>A (n.276+16183T>A) c.*220+6361A>T (n.*220+6361A>T) c.977A>T (p.Lys326Ile) c.1004A>T (p.Lys335Ile) c.1859A>T (p.Lys620Ile) c.1673A>T (p.Lys558Ile) c.1592A>T (p.Lys531Ile) c.1298A>T (p.Lys433Ile) c.1679A>T (p.Lys560Ile) | |
2 | g.48687863T>C | CA346743677 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1934A>G (p.Lys645Arg) c.*246A>G (n.*246A>G) c.3441+16183T>C (n.3441+16183T>C) c.*678A>G (n.*678A>G) c.1853A>G (p.Lys618Arg) c.276+16183T>C (n.276+16183T>C) c.*220+6361A>G (n.*220+6361A>G) c.977A>G (p.Lys326Arg) c.1004A>G (p.Lys335Arg) c.1859A>G (p.Lys620Arg) c.1673A>G (p.Lys558Arg) c.1592A>G (p.Lys531Arg) c.1298A>G (p.Lys433Arg) c.1679A>G (p.Lys560Arg) | |
2 | g.48687863T>G | CA346743675 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1934A>C (p.Lys645Thr) c.*246A>C (n.*246A>C) c.3441+16183T>G (n.3441+16183T>G) c.*678A>C (n.*678A>C) c.1853A>C (p.Lys618Thr) c.276+16183T>G (n.276+16183T>G) c.*220+6361A>C (n.*220+6361A>C) c.977A>C (p.Lys326Thr) c.1004A>C (p.Lys335Thr) c.1859A>C (p.Lys620Thr) c.1673A>C (p.Lys558Thr) c.1592A>C (p.Lys531Thr) c.1298A>C (p.Lys433Thr) c.1679A>C (p.Lys560Thr) | |
2 | g.48687864T>A | CA346743679 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1933A>T (p.Lys645Ter) c.*245A>T (n.*245A>T) c.3441+16184T>A (n.3441+16184T>A) c.*677A>T (n.*677A>T) c.1852A>T (p.Lys618Ter) c.276+16184T>A (n.276+16184T>A) c.*220+6360A>T (n.*220+6360A>T) c.976A>T (p.Lys326Ter) c.1003A>T (p.Lys335Ter) c.1858A>T (p.Lys620Ter) c.1672A>T (p.Lys558Ter) c.1591A>T (p.Lys531Ter) c.1297A>T (p.Lys433Ter) c.1678A>T (p.Lys560Ter) | |
2 | g.48687864T>C | CA346743684 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1933A>G (p.Lys645Glu) c.*245A>G (n.*245A>G) c.3441+16184T>C (n.3441+16184T>C) c.*677A>G (n.*677A>G) c.1852A>G (p.Lys618Glu) c.276+16184T>C (n.276+16184T>C) c.*220+6360A>G (n.*220+6360A>G) c.976A>G (p.Lys326Glu) c.1003A>G (p.Lys335Glu) c.1858A>G (p.Lys620Glu) c.1672A>G (p.Lys558Glu) c.1591A>G (p.Lys531Glu) c.1297A>G (p.Lys433Glu) c.1678A>G (p.Lys560Glu) | |
2 | g.48687864T>G | CA346743681 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1933A>C (p.Lys645Gln) c.*245A>C (n.*245A>C) c.3441+16184T>G (n.3441+16184T>G) c.*677A>C (n.*677A>C) c.1852A>C (p.Lys618Gln) c.276+16184T>G (n.276+16184T>G) c.*220+6360A>C (n.*220+6360A>C) c.976A>C (p.Lys326Gln) c.1003A>C (p.Lys335Gln) c.1858A>C (p.Lys620Gln) c.1672A>C (p.Lys558Gln) c.1591A>C (p.Lys531Gln) c.1297A>C (p.Lys433Gln) c.1678A>C (p.Lys560Gln) | gnomAD v4 |
2 | g.48687865A>C | CA346743686 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1932T>G (p.Cys644Trp) c.*244T>G (n.*244T>G) c.3441+16185A>C (n.3441+16185A>C) c.*676T>G (n.*676T>G) c.1851T>G (p.Cys617Trp) c.276+16185A>C (n.276+16185A>C) c.*220+6359T>G (n.*220+6359T>G) c.975T>G (p.Cys325Trp) c.1002T>G (p.Cys334Trp) c.1857T>G (p.Cys619Trp) c.1671T>G (p.Cys557Trp) c.1590T>G (p.Cys530Trp) c.1296T>G (p.Cys432Trp) c.1677T>G (p.Cys559Trp) | |
2 | g.48687865A>G | CA426125210 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1932T>C (p.Cys644=) c.*244T>C (n.*244T>C) c.3441+16185A>G (n.3441+16185A>G) c.*676T>C (n.*676T>C) c.1851T>C (p.Cys617=) c.276+16185A>G (n.276+16185A>G) c.*220+6359T>C (n.*220+6359T>C) c.975T>C (p.Cys325=) c.1002T>C (p.Cys334=) c.1857T>C (p.Cys619=) c.1671T>C (p.Cys557=) c.1590T>C (p.Cys530=) c.1296T>C (p.Cys432=) c.1677T>C (p.Cys559=) | |
2 | g.48687865A>T | CA346743687 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1932T>A (p.Cys644Ter) c.*244T>A (n.*244T>A) c.3441+16185A>T (n.3441+16185A>T) c.*676T>A (n.*676T>A) c.1851T>A (p.Cys617Ter) c.276+16185A>T (n.276+16185A>T) c.*220+6359T>A (n.*220+6359T>A) c.975T>A (p.Cys325Ter) c.1002T>A (p.Cys334Ter) c.1857T>A (p.Cys619Ter) c.1671T>A (p.Cys557Ter) c.1590T>A (p.Cys530Ter) c.1296T>A (p.Cys432Ter) c.1677T>A (p.Cys559Ter) | |
2 | g.48687866C>A | CA346743691 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1931G>T (p.Cys644Phe) c.*243G>T (n.*243G>T) c.3441+16186C>A (n.3441+16186C>A) c.*675G>T (n.*675G>T) c.1850G>T (p.Cys617Phe) c.276+16186C>A (n.276+16186C>A) c.*220+6358G>T (n.*220+6358G>T) c.974G>T (p.Cys325Phe) c.1001G>T (p.Cys334Phe) c.1856G>T (p.Cys619Phe) c.1670G>T (p.Cys557Phe) c.1589G>T (p.Cys530Phe) c.1295G>T (p.Cys432Phe) c.1676G>T (p.Cys559Phe) | gnomAD v4 |
2 | g.48687866C= | CA1248600880 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1931G= (p.Cys644=) c.*243G= (n.*243G=) c.3441+16186C= (n.3441+16186C=) c.*675G= (n.*675G=) c.1850G= (p.Cys617=) c.276+16186C= (n.276+16186C=) c.*220+6358G= (n.*220+6358G=) c.974G= (p.Cys325=) c.1001G= (p.Cys334=) c.1856G= (p.Cys619=) c.1670G= (p.Cys557=) c.1589G= (p.Cys530=) c.1295G= (p.Cys432=) c.1676G= (p.Cys559=) | |
2 | g.48687866C>G | CA346743694 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1931G>C (p.Cys644Ser) c.*243G>C (n.*243G>C) c.3441+16186C>G (n.3441+16186C>G) c.*675G>C (n.*675G>C) c.1850G>C (p.Cys617Ser) c.276+16186C>G (n.276+16186C>G) c.*220+6358G>C (n.*220+6358G>C) c.974G>C (p.Cys325Ser) c.1001G>C (p.Cys334Ser) c.1856G>C (p.Cys619Ser) c.1670G>C (p.Cys557Ser) c.1589G>C (p.Cys530Ser) c.1295G>C (p.Cys432Ser) c.1676G>C (p.Cys559Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687866C>T | CA346743696 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1931G>A (p.Cys644Tyr) c.*243G>A (n.*243G>A) c.3441+16186C>T (n.3441+16186C>T) c.*675G>A (n.*675G>A) c.1850G>A (p.Cys617Tyr) c.276+16186C>T (n.276+16186C>T) c.*220+6358G>A (n.*220+6358G>A) c.974G>A (p.Cys325Tyr) c.1001G>A (p.Cys334Tyr) c.1856G>A (p.Cys619Tyr) c.1670G>A (p.Cys557Tyr) c.1589G>A (p.Cys530Tyr) c.1295G>A (p.Cys432Tyr) c.1676G>A (p.Cys559Tyr) | gnomAD v4 |