Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.48687946A>C | CA346744184 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1851T>G (p.Cys617Trp) c.*163T>G (n.*163T>G) c.3441+16266A>C (n.3441+16266A>C) c.*595T>G (n.*595T>G) c.1770T>G (p.Cys590Trp) c.276+16266A>C (n.276+16266A>C) c.*220+6278T>G (n.*220+6278T>G) c.894T>G (p.Cys298Trp) c.921T>G (p.Cys307Trp) c.1776T>G (p.Cys592Trp) c.1590T>G (p.Cys530Trp) c.1509T>G (p.Cys503Trp) c.1215T>G (p.Cys405Trp) c.1596T>G (p.Cys532Trp) | |
2 | g.48687946A>G | CA426125511 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1851T>C (p.Cys617=) c.*163T>C (n.*163T>C) c.3441+16266A>G (n.3441+16266A>G) c.*595T>C (n.*595T>C) c.1770T>C (p.Cys590=) c.276+16266A>G (n.276+16266A>G) c.*220+6278T>C (n.*220+6278T>C) c.894T>C (p.Cys298=) c.921T>C (p.Cys307=) c.1776T>C (p.Cys592=) c.1590T>C (p.Cys530=) c.1509T>C (p.Cys503=) c.1215T>C (p.Cys405=) c.1596T>C (p.Cys532=) | |
2 | g.48687946A>T | CA346744186 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1851T>A (p.Cys617Ter) c.*163T>A (n.*163T>A) c.3441+16266A>T (n.3441+16266A>T) c.*595T>A (n.*595T>A) c.1770T>A (p.Cys590Ter) c.276+16266A>T (n.276+16266A>T) c.*220+6278T>A (n.*220+6278T>A) c.894T>A (p.Cys298Ter) c.921T>A (p.Cys307Ter) c.1776T>A (p.Cys592Ter) c.1590T>A (p.Cys530Ter) c.1509T>A (p.Cys503Ter) c.1215T>A (p.Cys405Ter) c.1596T>A (p.Cys532Ter) | |
2 | g.48687947del | CA2586969300 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1850del (p.Cys617LeufsTer22) c.*162del (n.*162del) c.3441+16267del (n.3441+16267del) c.*594del (n.*594del) c.1769del (p.Cys590LeufsTer22) c.276+16267del (n.276+16267del) c.*220+6277del (n.*220+6277del) c.893del (p.Cys298LeufsTer22) c.920del (p.Cys307LeufsTer22) c.1775del (p.Cys592LeufsTer22) c.1589del (p.Cys530LeufsTer22) c.1508del (p.Cys503LeufsTer22) c.1214del (p.Cys405LeufsTer22) c.1595del (p.Cys532LeufsTer22) | |
2 | g.48687947C>A | CA346744189 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1850G>T (p.Cys617Phe) c.*162G>T (n.*162G>T) c.3441+16267C>A (n.3441+16267C>A) c.*594G>T (n.*594G>T) c.1769G>T (p.Cys590Phe) c.276+16267C>A (n.276+16267C>A) c.*220+6277G>T (n.*220+6277G>T) c.893G>T (p.Cys298Phe) c.920G>T (p.Cys307Phe) c.1775G>T (p.Cys592Phe) c.1589G>T (p.Cys530Phe) c.1508G>T (p.Cys503Phe) c.1214G>T (p.Cys405Phe) c.1595G>T (p.Cys532Phe) | |
2 | g.48687947C>G | CA346744191 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1850G>C (p.Cys617Ser) c.*162G>C (n.*162G>C) c.3441+16267C>G (n.3441+16267C>G) c.*594G>C (n.*594G>C) c.1769G>C (p.Cys590Ser) c.276+16267C>G (n.276+16267C>G) c.*220+6277G>C (n.*220+6277G>C) c.893G>C (p.Cys298Ser) c.920G>C (p.Cys307Ser) c.1775G>C (p.Cys592Ser) c.1589G>C (p.Cys530Ser) c.1508G>C (p.Cys503Ser) c.1214G>C (p.Cys405Ser) c.1595G>C (p.Cys532Ser) | gnomAD v4 |
2 | g.48687947C>T | CA346744192 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1850G>A (p.Cys617Tyr) c.*162G>A (n.*162G>A) c.3441+16267C>T (n.3441+16267C>T) c.*594G>A (n.*594G>A) c.1769G>A (p.Cys590Tyr) c.276+16267C>T (n.276+16267C>T) c.*220+6277G>A (n.*220+6277G>A) c.893G>A (p.Cys298Tyr) c.920G>A (p.Cys307Tyr) c.1775G>A (p.Cys592Tyr) c.1589G>A (p.Cys530Tyr) c.1508G>A (p.Cys503Tyr) c.1214G>A (p.Cys405Tyr) c.1595G>A (p.Cys532Tyr) | |
2 | g.48687948A>C | CA346744195 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1849T>G (p.Cys617Gly) c.*161T>G (n.*161T>G) c.3441+16268A>C (n.3441+16268A>C) c.*593T>G (n.*593T>G) c.1768T>G (p.Cys590Gly) c.276+16268A>C (n.276+16268A>C) c.*220+6276T>G (n.*220+6276T>G) c.892T>G (p.Cys298Gly) c.919T>G (p.Cys307Gly) c.1774T>G (p.Cys592Gly) c.1588T>G (p.Cys530Gly) c.1507T>G (p.Cys503Gly) c.1213T>G (p.Cys405Gly) c.1594T>G (p.Cys532Gly) | |
2 | g.48687948A>G | CA346744196 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1849T>C (p.Cys617Arg) c.*161T>C (n.*161T>C) c.3441+16268A>G (n.3441+16268A>G) c.*593T>C (n.*593T>C) c.1768T>C (p.Cys590Arg) c.276+16268A>G (n.276+16268A>G) c.*220+6276T>C (n.*220+6276T>C) c.892T>C (p.Cys298Arg) c.919T>C (p.Cys307Arg) c.1774T>C (p.Cys592Arg) c.1588T>C (p.Cys530Arg) c.1507T>C (p.Cys503Arg) c.1213T>C (p.Cys405Arg) c.1594T>C (p.Cys532Arg) | |
2 | g.48687948A>T | CA346744197 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1849T>A (p.Cys617Ser) c.*161T>A (n.*161T>A) c.3441+16268A>T (n.3441+16268A>T) c.*593T>A (n.*593T>A) c.1768T>A (p.Cys590Ser) c.276+16268A>T (n.276+16268A>T) c.*220+6276T>A (n.*220+6276T>A) c.892T>A (p.Cys298Ser) c.919T>A (p.Cys307Ser) c.1774T>A (p.Cys592Ser) c.1588T>A (p.Cys530Ser) c.1507T>A (p.Cys503Ser) c.1213T>A (p.Cys405Ser) c.1594T>A (p.Cys532Ser) | |
2 | g.48687949A>C | CA426125524 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1848T>G (p.Ser616=) c.*160T>G (n.*160T>G) c.3441+16269A>C (n.3441+16269A>C) c.*592T>G (n.*592T>G) c.1767T>G (p.Ser589=) c.276+16269A>C (n.276+16269A>C) c.*220+6275T>G (n.*220+6275T>G) c.891T>G (p.Ser297=) c.918T>G (p.Ser306=) c.1773T>G (p.Ser591=) c.1587T>G (p.Ser529=) c.1506T>G (p.Ser502=) c.1212T>G (p.Ser404=) c.1593T>G (p.Ser531=) | |
2 | g.48687949A>G | CA426125518 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1848T>C (p.Ser616=) c.*160T>C (n.*160T>C) c.3441+16269A>G (n.3441+16269A>G) c.*592T>C (n.*592T>C) c.1767T>C (p.Ser589=) c.276+16269A>G (n.276+16269A>G) c.*220+6275T>C (n.*220+6275T>C) c.891T>C (p.Ser297=) c.918T>C (p.Ser306=) c.1773T>C (p.Ser591=) c.1587T>C (p.Ser529=) c.1506T>C (p.Ser502=) c.1212T>C (p.Ser404=) c.1593T>C (p.Ser531=) | gnomAD v4 |
2 | g.48687949A>T | CA426125517 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1848T>A (p.Ser616=) c.*160T>A (n.*160T>A) c.3441+16269A>T (n.3441+16269A>T) c.*592T>A (n.*592T>A) c.1767T>A (p.Ser589=) c.276+16269A>T (n.276+16269A>T) c.*220+6275T>A (n.*220+6275T>A) c.891T>A (p.Ser297=) c.918T>A (p.Ser306=) c.1773T>A (p.Ser591=) c.1587T>A (p.Ser529=) c.1506T>A (p.Ser502=) c.1212T>A (p.Ser404=) c.1593T>A (p.Ser531=) | |
2 | g.48687950G>A | CA346744203 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1847C>T (p.Ser616Phe) c.*159C>T (n.*159C>T) c.3441+16270G>A (n.3441+16270G>A) c.*591C>T (n.*591C>T) c.1766C>T (p.Ser589Phe) c.276+16270G>A (n.276+16270G>A) c.*220+6274C>T (n.*220+6274C>T) c.890C>T (p.Ser297Phe) c.917C>T (p.Ser306Phe) c.1772C>T (p.Ser591Phe) c.1586C>T (p.Ser529Phe) c.1505C>T (p.Ser502Phe) c.1211C>T (p.Ser404Phe) c.1592C>T (p.Ser531Phe) | COSMIC |
2 | g.48687950G>C | CA346744199 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1847C>G (p.Ser616Cys) c.*159C>G (n.*159C>G) c.3441+16270G>C (n.3441+16270G>C) c.*591C>G (n.*591C>G) c.1766C>G (p.Ser589Cys) c.276+16270G>C (n.276+16270G>C) c.*220+6274C>G (n.*220+6274C>G) c.890C>G (p.Ser297Cys) c.917C>G (p.Ser306Cys) c.1772C>G (p.Ser591Cys) c.1586C>G (p.Ser529Cys) c.1505C>G (p.Ser502Cys) c.1211C>G (p.Ser404Cys) c.1592C>G (p.Ser531Cys) | |
2 | g.48687950G= | CA1248600915 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1847C= (p.Ser616=) c.*159C= (n.*159C=) c.3441+16270G= (n.3441+16270G=) c.*591C= (n.*591C=) c.1766C= (p.Ser589=) c.276+16270G= (n.276+16270G=) c.*220+6274C= (n.*220+6274C=) c.890C= (p.Ser297=) c.917C= (p.Ser306=) c.1772C= (p.Ser591=) c.1586C= (p.Ser529=) c.1505C= (p.Ser502=) c.1211C= (p.Ser404=) c.1592C= (p.Ser531=) | |
2 | g.48687950G>T | CA123923 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1847C>A (p.Ser616Tyr) c.*159C>A (n.*159C>A) c.3441+16270G>T (n.3441+16270G>T) c.*591C>A (n.*591C>A) c.1766C>A (p.Ser589Tyr) c.276+16270G>T (n.276+16270G>T) c.*220+6274C>A (n.*220+6274C>A) c.890C>A (p.Ser297Tyr) c.917C>A (p.Ser306Tyr) c.1772C>A (p.Ser591Tyr) c.1586C>A (p.Ser529Tyr) c.1505C>A (p.Ser502Tyr) c.1211C>A (p.Ser404Tyr) c.1592C>A (p.Ser531Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687951A= | CA1248600916 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1846T= (p.Ser616=) c.*158T= (n.*158T=) c.3441+16271A= (n.3441+16271A=) c.*590T= (n.*590T=) c.1765T= (p.Ser589=) c.276+16271A= (n.276+16271A=) c.*220+6273T= (n.*220+6273T=) c.889T= (p.Ser297=) c.916T= (p.Ser306=) c.1771T= (p.Ser591=) c.1585T= (p.Ser529=) c.1504T= (p.Ser502=) c.1210T= (p.Ser404=) c.1591T= (p.Ser531=) | |
2 | g.48687951A>C | CA346744206 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1846T>G (p.Ser616Ala) c.*158T>G (n.*158T>G) c.3441+16271A>C (n.3441+16271A>C) c.*590T>G (n.*590T>G) c.1765T>G (p.Ser589Ala) c.276+16271A>C (n.276+16271A>C) c.*220+6273T>G (n.*220+6273T>G) c.889T>G (p.Ser297Ala) c.916T>G (p.Ser306Ala) c.1771T>G (p.Ser591Ala) c.1585T>G (p.Ser529Ala) c.1504T>G (p.Ser502Ala) c.1210T>G (p.Ser404Ala) c.1591T>G (p.Ser531Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687951A>G | CA346744208 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1846T>C (p.Ser616Pro) c.*158T>C (n.*158T>C) c.3441+16271A>G (n.3441+16271A>G) c.*590T>C (n.*590T>C) c.1765T>C (p.Ser589Pro) c.276+16271A>G (n.276+16271A>G) c.*220+6273T>C (n.*220+6273T>C) c.889T>C (p.Ser297Pro) c.916T>C (p.Ser306Pro) c.1771T>C (p.Ser591Pro) c.1585T>C (p.Ser529Pro) c.1504T>C (p.Ser502Pro) c.1210T>C (p.Ser404Pro) c.1591T>C (p.Ser531Pro) | gnomAD v4 |
2 | g.48687951A>T | CA346744209 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1846T>A (p.Ser616Thr) c.*158T>A (n.*158T>A) c.3441+16271A>T (n.3441+16271A>T) c.*590T>A (n.*590T>A) c.1765T>A (p.Ser589Thr) c.276+16271A>T (n.276+16271A>T) c.*220+6273T>A (n.*220+6273T>A) c.889T>A (p.Ser297Thr) c.916T>A (p.Ser306Thr) c.1771T>A (p.Ser591Thr) c.1585T>A (p.Ser529Thr) c.1504T>A (p.Ser502Thr) c.1210T>A (p.Ser404Thr) c.1591T>A (p.Ser531Thr) | |
2 | g.48687952A= | CA1248600917 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1845T= (p.Asn615=) c.*157T= (n.*157T=) c.3441+16272A= (n.3441+16272A=) c.*589T= (n.*589T=) c.1764T= (p.Asn588=) c.276+16272A= (n.276+16272A=) c.*220+6272T= (n.*220+6272T=) c.888T= (p.Asn296=) c.915T= (p.Asn305=) c.1770T= (p.Asn590=) c.1584T= (p.Asn528=) c.1503T= (p.Asn501=) c.1209T= (p.Asn403=) c.1590T= (p.Asn530=) | |
2 | g.48687952A>C | CA346744210 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1845T>G (p.Asn615Lys) c.*157T>G (n.*157T>G) c.3441+16272A>C (n.3441+16272A>C) c.*589T>G (n.*589T>G) c.1764T>G (p.Asn588Lys) c.276+16272A>C (n.276+16272A>C) c.*220+6272T>G (n.*220+6272T>G) c.888T>G (p.Asn296Lys) c.915T>G (p.Asn305Lys) c.1770T>G (p.Asn590Lys) c.1584T>G (p.Asn528Lys) c.1503T>G (p.Asn501Lys) c.1209T>G (p.Asn403Lys) c.1590T>G (p.Asn530Lys) | |
2 | g.48687952A>G | CA1652977 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1845T>C (p.Asn615=) c.*157T>C (n.*157T>C) c.3441+16272A>G (n.3441+16272A>G) c.*589T>C (n.*589T>C) c.1764T>C (p.Asn588=) c.276+16272A>G (n.276+16272A>G) c.*220+6272T>C (n.*220+6272T>C) c.888T>C (p.Asn296=) c.915T>C (p.Asn305=) c.1770T>C (p.Asn590=) c.1584T>C (p.Asn528=) c.1503T>C (p.Asn501=) c.1209T>C (p.Asn403=) c.1590T>C (p.Asn530=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687952A>T | CA346744217 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1845T>A (p.Asn615Lys) c.*157T>A (n.*157T>A) c.3441+16272A>T (n.3441+16272A>T) c.*589T>A (n.*589T>A) c.1764T>A (p.Asn588Lys) c.276+16272A>T (n.276+16272A>T) c.*220+6272T>A (n.*220+6272T>A) c.888T>A (p.Asn296Lys) c.915T>A (p.Asn305Lys) c.1770T>A (p.Asn590Lys) c.1584T>A (p.Asn528Lys) c.1503T>A (p.Asn501Lys) c.1209T>A (p.Asn403Lys) c.1590T>A (p.Asn530Lys) | COSMIC |
2 | g.48687952_48687953dup | CA532706162 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1844_1845dup (p.Ser616IlefsTer24) c.*156_*157dup (n.*156_*157dup) c.3441+16272_3441+16273dup (n.3441+16272_3441+16273dup) c.*588_*589dup (n.*588_*589dup) c.1763_1764dup (p.Ser589IlefsTer24) c.276+16272_276+16273dup (n.276+16272_276+16273dup) c.*220+6271_*220+6272dup (n.*220+6271_*220+6272dup) c.887_888dup (p.Ser297IlefsTer24) c.914_915dup (p.Ser306IlefsTer24) c.1769_1770dup (p.Ser591IlefsTer24) c.1583_1584dup (p.Ser529IlefsTer24) c.1502_1503dup (p.Ser502IlefsTer24) c.1208_1209dup (p.Ser404IlefsTer24) c.1589_1590dup (p.Ser531IlefsTer24) | gnomAD v2 gnomAD v4 |
2 | g.48687953T>A | CA346744229 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1844A>T (p.Asn615Ile) c.*156A>T (n.*156A>T) c.3441+16273T>A (n.3441+16273T>A) c.*588A>T (n.*588A>T) c.1763A>T (p.Asn588Ile) c.276+16273T>A (n.276+16273T>A) c.*220+6271A>T (n.*220+6271A>T) c.887A>T (p.Asn296Ile) c.914A>T (p.Asn305Ile) c.1769A>T (p.Asn590Ile) c.1583A>T (p.Asn528Ile) c.1502A>T (p.Asn501Ile) c.1208A>T (p.Asn403Ile) c.1589A>T (p.Asn530Ile) | |
2 | g.48687953T>C | CA346744233 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1844A>G (p.Asn615Ser) c.*156A>G (n.*156A>G) c.3441+16273T>C (n.3441+16273T>C) c.*588A>G (n.*588A>G) c.1763A>G (p.Asn588Ser) c.276+16273T>C (n.276+16273T>C) c.*220+6271A>G (n.*220+6271A>G) c.887A>G (p.Asn296Ser) c.914A>G (p.Asn305Ser) c.1769A>G (p.Asn590Ser) c.1583A>G (p.Asn528Ser) c.1502A>G (p.Asn501Ser) c.1208A>G (p.Asn403Ser) c.1589A>G (p.Asn530Ser) | |
2 | g.48687953T>G | CA346744235 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1844A>C (p.Asn615Thr) c.*156A>C (n.*156A>C) c.3441+16273T>G (n.3441+16273T>G) c.*588A>C (n.*588A>C) c.1763A>C (p.Asn588Thr) c.276+16273T>G (n.276+16273T>G) c.*220+6271A>C (n.*220+6271A>C) c.887A>C (p.Asn296Thr) c.914A>C (p.Asn305Thr) c.1769A>C (p.Asn590Thr) c.1583A>C (p.Asn528Thr) c.1502A>C (p.Asn501Thr) c.1208A>C (p.Asn403Thr) c.1589A>C (p.Asn530Thr) | gnomAD v4 |
2 | g.48687954T>A | CA346744237 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1843A>T (p.Asn615Tyr) c.*155A>T (n.*155A>T) c.3441+16274T>A (n.3441+16274T>A) c.*587A>T (n.*587A>T) c.1762A>T (p.Asn588Tyr) c.276+16274T>A (n.276+16274T>A) c.*220+6270A>T (n.*220+6270A>T) c.886A>T (p.Asn296Tyr) c.913A>T (p.Asn305Tyr) c.1768A>T (p.Asn590Tyr) c.1582A>T (p.Asn528Tyr) c.1501A>T (p.Asn501Tyr) c.1207A>T (p.Asn403Tyr) c.1588A>T (p.Asn530Tyr) | |
2 | g.48687954T>C | CA346744238 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1843A>G (p.Asn615Asp) c.*155A>G (n.*155A>G) c.3441+16274T>C (n.3441+16274T>C) c.*587A>G (n.*587A>G) c.1762A>G (p.Asn588Asp) c.276+16274T>C (n.276+16274T>C) c.*220+6270A>G (n.*220+6270A>G) c.886A>G (p.Asn296Asp) c.913A>G (p.Asn305Asp) c.1768A>G (p.Asn590Asp) c.1582A>G (p.Asn528Asp) c.1501A>G (p.Asn501Asp) c.1207A>G (p.Asn403Asp) c.1588A>G (p.Asn530Asp) | |
2 | g.48687954T>G | CA346744239 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1843A>C (p.Asn615His) c.*155A>C (n.*155A>C) c.3441+16274T>G (n.3441+16274T>G) c.*587A>C (n.*587A>C) c.1762A>C (p.Asn588His) c.276+16274T>G (n.276+16274T>G) c.*220+6270A>C (n.*220+6270A>C) c.886A>C (p.Asn296His) c.913A>C (p.Asn305His) c.1768A>C (p.Asn590His) c.1582A>C (p.Asn528His) c.1501A>C (p.Asn501His) c.1207A>C (p.Asn403His) c.1588A>C (p.Asn530His) | |
2 | g.48687955G>A | CA426125546 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1842C>T (p.Ile614=) c.*154C>T (n.*154C>T) c.3441+16275G>A (n.3441+16275G>A) c.*586C>T (n.*586C>T) c.1761C>T (p.Ile587=) c.276+16275G>A (n.276+16275G>A) c.*220+6269C>T (n.*220+6269C>T) c.885C>T (p.Ile295=) c.912C>T (p.Ile304=) c.1767C>T (p.Ile589=) c.1581C>T (p.Ile527=) c.1500C>T (p.Ile500=) c.1206C>T (p.Ile402=) c.1587C>T (p.Ile529=) | |
2 | g.48687955G>C | CA346744240 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1842C>G (p.Ile614Met) c.*154C>G (n.*154C>G) c.3441+16275G>C (n.3441+16275G>C) c.*586C>G (n.*586C>G) c.1761C>G (p.Ile587Met) c.276+16275G>C (n.276+16275G>C) c.*220+6269C>G (n.*220+6269C>G) c.885C>G (p.Ile295Met) c.912C>G (p.Ile304Met) c.1767C>G (p.Ile589Met) c.1581C>G (p.Ile527Met) c.1500C>G (p.Ile500Met) c.1206C>G (p.Ile402Met) c.1587C>G (p.Ile529Met) | |
2 | g.48687955G>T | CA426125549 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1842C>A (p.Ile614=) c.*154C>A (n.*154C>A) c.3441+16275G>T (n.3441+16275G>T) c.*586C>A (n.*586C>A) c.1761C>A (p.Ile587=) c.276+16275G>T (n.276+16275G>T) c.*220+6269C>A (n.*220+6269C>A) c.885C>A (p.Ile295=) c.912C>A (p.Ile304=) c.1767C>A (p.Ile589=) c.1581C>A (p.Ile527=) c.1500C>A (p.Ile500=) c.1206C>A (p.Ile402=) c.1587C>A (p.Ile529=) | |
2 | g.48687956A= | CA1248600918 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1841T= (p.Ile614=) c.*153T= (n.*153T=) c.3441+16276A= (n.3441+16276A=) c.*585T= (n.*585T=) c.1760T= (p.Ile587=) c.276+16276A= (n.276+16276A=) c.*220+6268T= (n.*220+6268T=) c.884T= (p.Ile295=) c.911T= (p.Ile304=) c.1766T= (p.Ile589=) c.1580T= (p.Ile527=) c.1499T= (p.Ile500=) c.1205T= (p.Ile402=) c.1586T= (p.Ile529=) | |
2 | g.48687956A>C | CA1652979 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1841T>G (p.Ile614Ser) c.*153T>G (n.*153T>G) c.3441+16276A>C (n.3441+16276A>C) c.*585T>G (n.*585T>G) c.1760T>G (p.Ile587Ser) c.276+16276A>C (n.276+16276A>C) c.*220+6268T>G (n.*220+6268T>G) c.884T>G (p.Ile295Ser) c.911T>G (p.Ile304Ser) c.1766T>G (p.Ile589Ser) c.1580T>G (p.Ile527Ser) c.1499T>G (p.Ile500Ser) c.1205T>G (p.Ile402Ser) c.1586T>G (p.Ile529Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687956A>G | CA346744242 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1841T>C (p.Ile614Thr) c.*153T>C (n.*153T>C) c.3441+16276A>G (n.3441+16276A>G) c.*585T>C (n.*585T>C) c.1760T>C (p.Ile587Thr) c.276+16276A>G (n.276+16276A>G) c.*220+6268T>C (n.*220+6268T>C) c.884T>C (p.Ile295Thr) c.911T>C (p.Ile304Thr) c.1766T>C (p.Ile589Thr) c.1580T>C (p.Ile527Thr) c.1499T>C (p.Ile500Thr) c.1205T>C (p.Ile402Thr) c.1586T>C (p.Ile529Thr) | |
2 | g.48687956A>T | CA1652978 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1841T>A (p.Ile614Asn) c.*153T>A (n.*153T>A) c.3441+16276A>T (n.3441+16276A>T) c.*585T>A (n.*585T>A) c.1760T>A (p.Ile587Asn) c.276+16276A>T (n.276+16276A>T) c.*220+6268T>A (n.*220+6268T>A) c.884T>A (p.Ile295Asn) c.911T>A (p.Ile304Asn) c.1766T>A (p.Ile589Asn) c.1580T>A (p.Ile527Asn) c.1499T>A (p.Ile500Asn) c.1205T>A (p.Ile402Asn) c.1586T>A (p.Ile529Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687957T>A | CA346744259 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1840A>T (p.Ile614Phe) c.*152A>T (n.*152A>T) c.3441+16277T>A (n.3441+16277T>A) c.*584A>T (n.*584A>T) c.1759A>T (p.Ile587Phe) c.276+16277T>A (n.276+16277T>A) c.*220+6267A>T (n.*220+6267A>T) c.883A>T (p.Ile295Phe) c.910A>T (p.Ile304Phe) c.1765A>T (p.Ile589Phe) c.1579A>T (p.Ile527Phe) c.1498A>T (p.Ile500Phe) c.1204A>T (p.Ile402Phe) c.1585A>T (p.Ile529Phe) | |
2 | g.48687957T>C | CA346744260 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1840A>G (p.Ile614Val) c.*152A>G (n.*152A>G) c.3441+16277T>C (n.3441+16277T>C) c.*584A>G (n.*584A>G) c.1759A>G (p.Ile587Val) c.276+16277T>C (n.276+16277T>C) c.*220+6267A>G (n.*220+6267A>G) c.883A>G (p.Ile295Val) c.910A>G (p.Ile304Val) c.1765A>G (p.Ile589Val) c.1579A>G (p.Ile527Val) c.1498A>G (p.Ile500Val) c.1204A>G (p.Ile402Val) c.1585A>G (p.Ile529Val) | |
2 | g.48687957T>G | CA346744264 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1840A>C (p.Ile614Leu) c.*152A>C (n.*152A>C) c.3441+16277T>G (n.3441+16277T>G) c.*584A>C (n.*584A>C) c.1759A>C (p.Ile587Leu) c.276+16277T>G (n.276+16277T>G) c.*220+6267A>C (n.*220+6267A>C) c.883A>C (p.Ile295Leu) c.910A>C (p.Ile304Leu) c.1765A>C (p.Ile589Leu) c.1579A>C (p.Ile527Leu) c.1498A>C (p.Ile500Leu) c.1204A>C (p.Ile402Leu) c.1585A>C (p.Ile529Leu) | |
2 | g.48687958G>A | CA426125559 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1839C>T (p.Pro613=) c.*151C>T (n.*151C>T) c.3441+16278G>A (n.3441+16278G>A) c.*583C>T (n.*583C>T) c.1758C>T (p.Pro586=) c.276+16278G>A (n.276+16278G>A) c.*220+6266C>T (n.*220+6266C>T) c.882C>T (p.Pro294=) c.909C>T (p.Pro303=) c.1764C>T (p.Pro588=) c.1578C>T (p.Pro526=) c.1497C>T (p.Pro499=) c.1203C>T (p.Pro401=) c.1584C>T (p.Pro528=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687958G>C | CA426125560 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1839C>G (p.Pro613=) c.*151C>G (n.*151C>G) c.3441+16278G>C (n.3441+16278G>C) c.*583C>G (n.*583C>G) c.1758C>G (p.Pro586=) c.276+16278G>C (n.276+16278G>C) c.*220+6266C>G (n.*220+6266C>G) c.882C>G (p.Pro294=) c.909C>G (p.Pro303=) c.1764C>G (p.Pro588=) c.1578C>G (p.Pro526=) c.1497C>G (p.Pro499=) c.1203C>G (p.Pro401=) c.1584C>G (p.Pro528=) | |
2 | g.48687958G= | CA1248600919 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1839C= (p.Pro613=) c.*151C= (n.*151C=) c.3441+16278G= (n.3441+16278G=) c.*583C= (n.*583C=) c.1758C= (p.Pro586=) c.276+16278G= (n.276+16278G=) c.*220+6266C= (n.*220+6266C=) c.882C= (p.Pro294=) c.909C= (p.Pro303=) c.1764C= (p.Pro588=) c.1578C= (p.Pro526=) c.1497C= (p.Pro499=) c.1203C= (p.Pro401=) c.1584C= (p.Pro528=) | |
2 | g.48687958G>T | CA426125562 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1839C>A (p.Pro613=) c.*151C>A (n.*151C>A) c.3441+16278G>T (n.3441+16278G>T) c.*583C>A (n.*583C>A) c.1758C>A (p.Pro586=) c.276+16278G>T (n.276+16278G>T) c.*220+6266C>A (n.*220+6266C>A) c.882C>A (p.Pro294=) c.909C>A (p.Pro303=) c.1764C>A (p.Pro588=) c.1578C>A (p.Pro526=) c.1497C>A (p.Pro499=) c.1203C>A (p.Pro401=) c.1584C>A (p.Pro528=) | dbSNP gnomAD v4 |
2 | g.48687959G>A | CA346744267 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1838C>T (p.Pro613Leu) c.*150C>T (n.*150C>T) c.3441+16279G>A (n.3441+16279G>A) c.*582C>T (n.*582C>T) c.1757C>T (p.Pro586Leu) c.276+16279G>A (n.276+16279G>A) c.*220+6265C>T (n.*220+6265C>T) c.881C>T (p.Pro294Leu) c.908C>T (p.Pro303Leu) c.1763C>T (p.Pro588Leu) c.1577C>T (p.Pro526Leu) c.1496C>T (p.Pro499Leu) c.1202C>T (p.Pro401Leu) c.1583C>T (p.Pro528Leu) | |
2 | g.48687959G>C | CA1652980 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1838C>G (p.Pro613Arg) c.*150C>G (n.*150C>G) c.3441+16279G>C (n.3441+16279G>C) c.*582C>G (n.*582C>G) c.1757C>G (p.Pro586Arg) c.276+16279G>C (n.276+16279G>C) c.*220+6265C>G (n.*220+6265C>G) c.881C>G (p.Pro294Arg) c.908C>G (p.Pro303Arg) c.1763C>G (p.Pro588Arg) c.1577C>G (p.Pro526Arg) c.1496C>G (p.Pro499Arg) c.1202C>G (p.Pro401Arg) c.1583C>G (p.Pro528Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687959G= | CA1248600920 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1838C= (p.Pro613=) c.*150C= (n.*150C=) c.3441+16279G= (n.3441+16279G=) c.*582C= (n.*582C=) c.1757C= (p.Pro586=) c.276+16279G= (n.276+16279G=) c.*220+6265C= (n.*220+6265C=) c.881C= (p.Pro294=) c.908C= (p.Pro303=) c.1763C= (p.Pro588=) c.1577C= (p.Pro526=) c.1496C= (p.Pro499=) c.1202C= (p.Pro401=) c.1583C= (p.Pro528=) | |
2 | g.48687959G>T | CA346744271 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1838C>A (p.Pro613His) c.*150C>A (n.*150C>A) c.3441+16279G>T (n.3441+16279G>T) c.*582C>A (n.*582C>A) c.1757C>A (p.Pro586His) c.276+16279G>T (n.276+16279G>T) c.*220+6265C>A (n.*220+6265C>A) c.881C>A (p.Pro294His) c.908C>A (p.Pro303His) c.1763C>A (p.Pro588His) c.1577C>A (p.Pro526His) c.1496C>A (p.Pro499His) c.1202C>A (p.Pro401His) c.1583C>A (p.Pro528His) | |
2 | g.48687960G>A | CA346744274 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1837C>T (p.Pro613Ser) c.*149C>T (n.*149C>T) c.3441+16280G>A (n.3441+16280G>A) c.*581C>T (n.*581C>T) c.1756C>T (p.Pro586Ser) c.276+16280G>A (n.276+16280G>A) c.*220+6264C>T (n.*220+6264C>T) c.880C>T (p.Pro294Ser) c.907C>T (p.Pro303Ser) c.1762C>T (p.Pro588Ser) c.1576C>T (p.Pro526Ser) c.1495C>T (p.Pro499Ser) c.1201C>T (p.Pro401Ser) c.1582C>T (p.Pro528Ser) | COSMIC |
2 | g.48687960G>C | CA346744276 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1837C>G (p.Pro613Ala) c.*149C>G (n.*149C>G) c.3441+16280G>C (n.3441+16280G>C) c.*581C>G (n.*581C>G) c.1756C>G (p.Pro586Ala) c.276+16280G>C (n.276+16280G>C) c.*220+6264C>G (n.*220+6264C>G) c.880C>G (p.Pro294Ala) c.907C>G (p.Pro303Ala) c.1762C>G (p.Pro588Ala) c.1576C>G (p.Pro526Ala) c.1495C>G (p.Pro499Ala) c.1201C>G (p.Pro401Ala) c.1582C>G (p.Pro528Ala) | |
2 | g.48687960G>T | CA346744279 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1837C>A (p.Pro613Thr) c.*149C>A (n.*149C>A) c.3441+16280G>T (n.3441+16280G>T) c.*581C>A (n.*581C>A) c.1756C>A (p.Pro586Thr) c.276+16280G>T (n.276+16280G>T) c.*220+6264C>A (n.*220+6264C>A) c.880C>A (p.Pro294Thr) c.907C>A (p.Pro303Thr) c.1762C>A (p.Pro588Thr) c.1576C>A (p.Pro526Thr) c.1495C>A (p.Pro499Thr) c.1201C>A (p.Pro401Thr) c.1582C>A (p.Pro528Thr) | |
2 | g.48687961A>C | CA346744284 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1836T>G (p.Tyr612Ter) c.*148T>G (n.*148T>G) c.3441+16281A>C (n.3441+16281A>C) c.*580T>G (n.*580T>G) c.1755T>G (p.Tyr585Ter) c.276+16281A>C (n.276+16281A>C) c.*220+6263T>G (n.*220+6263T>G) c.879T>G (p.Tyr293Ter) c.906T>G (p.Tyr302Ter) c.1761T>G (p.Tyr587Ter) c.1575T>G (p.Tyr525Ter) c.1494T>G (p.Tyr498Ter) c.1200T>G (p.Tyr400Ter) c.1581T>G (p.Tyr527Ter) | |
2 | g.48687961A>G | CA426125577 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1836T>C (p.Tyr612=) c.*148T>C (n.*148T>C) c.3441+16281A>G (n.3441+16281A>G) c.*580T>C (n.*580T>C) c.1755T>C (p.Tyr585=) c.276+16281A>G (n.276+16281A>G) c.*220+6263T>C (n.*220+6263T>C) c.879T>C (p.Tyr293=) c.906T>C (p.Tyr302=) c.1761T>C (p.Tyr587=) c.1575T>C (p.Tyr525=) c.1494T>C (p.Tyr498=) c.1200T>C (p.Tyr400=) c.1581T>C (p.Tyr527=) | |
2 | g.48687961A>T | CA346744287 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1836T>A (p.Tyr612Ter) c.*148T>A (n.*148T>A) c.3441+16281A>T (n.3441+16281A>T) c.*580T>A (n.*580T>A) c.1755T>A (p.Tyr585Ter) c.276+16281A>T (n.276+16281A>T) c.*220+6263T>A (n.*220+6263T>A) c.879T>A (p.Tyr293Ter) c.906T>A (p.Tyr302Ter) c.1761T>A (p.Tyr587Ter) c.1575T>A (p.Tyr525Ter) c.1494T>A (p.Tyr498Ter) c.1200T>A (p.Tyr400Ter) c.1581T>A (p.Tyr527Ter) | |
2 | g.48687962T>A | CA346744290 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1835A>T (p.Tyr612Phe) c.*147A>T (n.*147A>T) c.3441+16282T>A (n.3441+16282T>A) c.*579A>T (n.*579A>T) c.1754A>T (p.Tyr585Phe) c.276+16282T>A (n.276+16282T>A) c.*220+6262A>T (n.*220+6262A>T) c.878A>T (p.Tyr293Phe) c.905A>T (p.Tyr302Phe) c.1760A>T (p.Tyr587Phe) c.1574A>T (p.Tyr525Phe) c.1493A>T (p.Tyr498Phe) c.1199A>T (p.Tyr400Phe) c.1580A>T (p.Tyr527Phe) | |
2 | g.48687962T>C | CA346744288 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1835A>G (p.Tyr612Cys) c.*147A>G (n.*147A>G) c.3441+16282T>C (n.3441+16282T>C) c.*579A>G (n.*579A>G) c.1754A>G (p.Tyr585Cys) c.276+16282T>C (n.276+16282T>C) c.*220+6262A>G (n.*220+6262A>G) c.878A>G (p.Tyr293Cys) c.905A>G (p.Tyr302Cys) c.1760A>G (p.Tyr587Cys) c.1574A>G (p.Tyr525Cys) c.1493A>G (p.Tyr498Cys) c.1199A>G (p.Tyr400Cys) c.1580A>G (p.Tyr527Cys) | dbSNP |
2 | g.48687962T>G | CA346744289 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1835A>C (p.Tyr612Ser) c.*147A>C (n.*147A>C) c.3441+16282T>G (n.3441+16282T>G) c.*579A>C (n.*579A>C) c.1754A>C (p.Tyr585Ser) c.276+16282T>G (n.276+16282T>G) c.*220+6262A>C (n.*220+6262A>C) c.878A>C (p.Tyr293Ser) c.905A>C (p.Tyr302Ser) c.1760A>C (p.Tyr587Ser) c.1574A>C (p.Tyr525Ser) c.1493A>C (p.Tyr498Ser) c.1199A>C (p.Tyr400Ser) c.1580A>C (p.Tyr527Ser) | |
2 | g.48687962T= | CA1248600921 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1835A= (p.Tyr612=) c.*147A= (n.*147A=) c.3441+16282T= (n.3441+16282T=) c.*579A= (n.*579A=) c.1754A= (p.Tyr585=) c.276+16282T= (n.276+16282T=) c.*220+6262A= (n.*220+6262A=) c.878A= (p.Tyr293=) c.905A= (p.Tyr302=) c.1760A= (p.Tyr587=) c.1574A= (p.Tyr525=) c.1493A= (p.Tyr498=) c.1199A= (p.Tyr400=) c.1580A= (p.Tyr527=) | |
2 | g.48687963A= | CA1248600922 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1834T= (p.Tyr612=) c.*146T= (n.*146T=) c.3441+16283A= (n.3441+16283A=) c.*578T= (n.*578T=) c.1753T= (p.Tyr585=) c.276+16283A= (n.276+16283A=) c.*220+6261T= (n.*220+6261T=) c.877T= (p.Tyr293=) c.904T= (p.Tyr302=) c.1759T= (p.Tyr587=) c.1573T= (p.Tyr525=) c.1492T= (p.Tyr498=) c.1198T= (p.Tyr400=) c.1579T= (p.Tyr527=) | |
2 | g.48687963A>C | CA346744291 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1834T>G (p.Tyr612Asp) c.*146T>G (n.*146T>G) c.3441+16283A>C (n.3441+16283A>C) c.*578T>G (n.*578T>G) c.1753T>G (p.Tyr585Asp) c.276+16283A>C (n.276+16283A>C) c.*220+6261T>G (n.*220+6261T>G) c.877T>G (p.Tyr293Asp) c.904T>G (p.Tyr302Asp) c.1759T>G (p.Tyr587Asp) c.1573T>G (p.Tyr525Asp) c.1492T>G (p.Tyr498Asp) c.1198T>G (p.Tyr400Asp) c.1579T>G (p.Tyr527Asp) | |
2 | g.48687963A>G | CA346744294 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1834T>C (p.Tyr612His) c.*146T>C (n.*146T>C) c.3441+16283A>G (n.3441+16283A>G) c.*578T>C (n.*578T>C) c.1753T>C (p.Tyr585His) c.276+16283A>G (n.276+16283A>G) c.*220+6261T>C (n.*220+6261T>C) c.877T>C (p.Tyr293His) c.904T>C (p.Tyr302His) c.1759T>C (p.Tyr587His) c.1573T>C (p.Tyr525His) c.1492T>C (p.Tyr498His) c.1198T>C (p.Tyr400His) c.1579T>C (p.Tyr527His) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687963A>T | CA346744295 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1834T>A (p.Tyr612Asn) c.*146T>A (n.*146T>A) c.3441+16283A>T (n.3441+16283A>T) c.*578T>A (n.*578T>A) c.1753T>A (p.Tyr585Asn) c.276+16283A>T (n.276+16283A>T) c.*220+6261T>A (n.*220+6261T>A) c.877T>A (p.Tyr293Asn) c.904T>A (p.Tyr302Asn) c.1759T>A (p.Tyr587Asn) c.1573T>A (p.Tyr525Asn) c.1492T>A (p.Tyr498Asn) c.1198T>A (p.Tyr400Asn) c.1579T>A (p.Tyr527Asn) | |
2 | g.48687968dup | CA2658992079 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1834dup (p.Tyr612LeufsTer17) c.*146dup (n.*146dup) c.3441+16288dup (n.3441+16288dup) c.*578dup (n.*578dup) c.1753dup (p.Tyr585LeufsTer17) c.276+16288dup (n.276+16288dup) c.*220+6261dup (n.*220+6261dup) c.877dup (p.Tyr293LeufsTer17) c.904dup (p.Tyr302LeufsTer17) c.1759dup (p.Tyr587LeufsTer17) c.1573dup (p.Tyr525LeufsTer17) c.1492dup (p.Tyr498LeufsTer17) c.1198dup (p.Tyr400LeufsTer17) c.1579dup (p.Tyr527LeufsTer17) | gnomAD v4 |
2 | g.48687964A>C | CA346744296 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1833T>G (p.Phe611Leu) c.*145T>G (n.*145T>G) c.3441+16284A>C (n.3441+16284A>C) c.*577T>G (n.*577T>G) c.1752T>G (p.Phe584Leu) c.276+16284A>C (n.276+16284A>C) c.*220+6260T>G (n.*220+6260T>G) c.876T>G (p.Phe292Leu) c.903T>G (p.Phe301Leu) c.1758T>G (p.Phe586Leu) c.1572T>G (p.Phe524Leu) c.1491T>G (p.Phe497Leu) c.1197T>G (p.Phe399Leu) c.1578T>G (p.Phe526Leu) | |
2 | g.48687964A>G | CA426125593 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1833T>C (p.Phe611=) c.*145T>C (n.*145T>C) c.3441+16284A>G (n.3441+16284A>G) c.*577T>C (n.*577T>C) c.1752T>C (p.Phe584=) c.276+16284A>G (n.276+16284A>G) c.*220+6260T>C (n.*220+6260T>C) c.876T>C (p.Phe292=) c.903T>C (p.Phe301=) c.1758T>C (p.Phe586=) c.1572T>C (p.Phe524=) c.1491T>C (p.Phe497=) c.1197T>C (p.Phe399=) c.1578T>C (p.Phe526=) | |
2 | g.48687964A>T | CA346744297 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1833T>A (p.Phe611Leu) c.*145T>A (n.*145T>A) c.3441+16284A>T (n.3441+16284A>T) c.*577T>A (n.*577T>A) c.1752T>A (p.Phe584Leu) c.276+16284A>T (n.276+16284A>T) c.*220+6260T>A (n.*220+6260T>A) c.876T>A (p.Phe292Leu) c.903T>A (p.Phe301Leu) c.1758T>A (p.Phe586Leu) c.1572T>A (p.Phe524Leu) c.1491T>A (p.Phe497Leu) c.1197T>A (p.Phe399Leu) c.1578T>A (p.Phe526Leu) | |
2 | g.48687965A>C | CA346744298 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1832T>G (p.Phe611Cys) c.*144T>G (n.*144T>G) c.3441+16285A>C (n.3441+16285A>C) c.*576T>G (n.*576T>G) c.1751T>G (p.Phe584Cys) c.276+16285A>C (n.276+16285A>C) c.*220+6259T>G (n.*220+6259T>G) c.875T>G (p.Phe292Cys) c.902T>G (p.Phe301Cys) c.1757T>G (p.Phe586Cys) c.1571T>G (p.Phe524Cys) c.1490T>G (p.Phe497Cys) c.1196T>G (p.Phe399Cys) c.1577T>G (p.Phe526Cys) | |
2 | g.48687965A>G | CA346744299 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1832T>C (p.Phe611Ser) c.*144T>C (n.*144T>C) c.3441+16285A>G (n.3441+16285A>G) c.*576T>C (n.*576T>C) c.1751T>C (p.Phe584Ser) c.276+16285A>G (n.276+16285A>G) c.*220+6259T>C (n.*220+6259T>C) c.875T>C (p.Phe292Ser) c.902T>C (p.Phe301Ser) c.1757T>C (p.Phe586Ser) c.1571T>C (p.Phe524Ser) c.1490T>C (p.Phe497Ser) c.1196T>C (p.Phe399Ser) c.1577T>C (p.Phe526Ser) | |
2 | g.48687965A>T | CA346744300 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1832T>A (p.Phe611Tyr) c.*144T>A (n.*144T>A) c.3441+16285A>T (n.3441+16285A>T) c.*576T>A (n.*576T>A) c.1751T>A (p.Phe584Tyr) c.276+16285A>T (n.276+16285A>T) c.*220+6259T>A (n.*220+6259T>A) c.875T>A (p.Phe292Tyr) c.902T>A (p.Phe301Tyr) c.1757T>A (p.Phe586Tyr) c.1571T>A (p.Phe524Tyr) c.1490T>A (p.Phe497Tyr) c.1196T>A (p.Phe399Tyr) c.1577T>A (p.Phe526Tyr) | |
2 | g.48687966A= | CA1248600923 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1831T= (p.Phe611=) c.*143T= (n.*143T=) c.3441+16286A= (n.3441+16286A=) c.*575T= (n.*575T=) c.1750T= (p.Phe584=) c.276+16286A= (n.276+16286A=) c.*220+6258T= (n.*220+6258T=) c.874T= (p.Phe292=) c.901T= (p.Phe301=) c.1756T= (p.Phe586=) c.1570T= (p.Phe524=) c.1489T= (p.Phe497=) c.1195T= (p.Phe399=) c.1576T= (p.Phe526=) | |
2 | g.48687966A>C | CA1652981 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1831T>G (p.Phe611Val) c.*143T>G (n.*143T>G) c.3441+16286A>C (n.3441+16286A>C) c.*575T>G (n.*575T>G) c.1750T>G (p.Phe584Val) c.276+16286A>C (n.276+16286A>C) c.*220+6258T>G (n.*220+6258T>G) c.874T>G (p.Phe292Val) c.901T>G (p.Phe301Val) c.1756T>G (p.Phe586Val) c.1570T>G (p.Phe524Val) c.1489T>G (p.Phe497Val) c.1195T>G (p.Phe399Val) c.1576T>G (p.Phe526Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687966A>G | CA346744301 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1831T>C (p.Phe611Leu) c.*143T>C (n.*143T>C) c.3441+16286A>G (n.3441+16286A>G) c.*575T>C (n.*575T>C) c.1750T>C (p.Phe584Leu) c.276+16286A>G (n.276+16286A>G) c.*220+6258T>C (n.*220+6258T>C) c.874T>C (p.Phe292Leu) c.901T>C (p.Phe301Leu) c.1756T>C (p.Phe586Leu) c.1570T>C (p.Phe524Leu) c.1489T>C (p.Phe497Leu) c.1195T>C (p.Phe399Leu) c.1576T>C (p.Phe526Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687966A>T | CA346744303 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1831T>A (p.Phe611Ile) c.*143T>A (n.*143T>A) c.3441+16286A>T (n.3441+16286A>T) c.*575T>A (n.*575T>A) c.1750T>A (p.Phe584Ile) c.276+16286A>T (n.276+16286A>T) c.*220+6258T>A (n.*220+6258T>A) c.874T>A (p.Phe292Ile) c.901T>A (p.Phe301Ile) c.1756T>A (p.Phe586Ile) c.1570T>A (p.Phe524Ile) c.1489T>A (p.Phe497Ile) c.1195T>A (p.Phe399Ile) c.1576T>A (p.Phe526Ile) | |
2 | g.48687967A>C | CA426125611 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1830T>G (p.Leu610=) c.*142T>G (n.*142T>G) c.3441+16287A>C (n.3441+16287A>C) c.*574T>G (n.*574T>G) c.1749T>G (p.Leu583=) c.276+16287A>C (n.276+16287A>C) c.*220+6257T>G (n.*220+6257T>G) c.873T>G (p.Leu291=) c.900T>G (p.Leu300=) c.1755T>G (p.Leu585=) c.1569T>G (p.Leu523=) c.1488T>G (p.Leu496=) c.1194T>G (p.Leu398=) c.1575T>G (p.Leu525=) | |
2 | g.48687967A>G | CA426125610 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1830T>C (p.Leu610=) c.*142T>C (n.*142T>C) c.3441+16287A>G (n.3441+16287A>G) c.*574T>C (n.*574T>C) c.1749T>C (p.Leu583=) c.276+16287A>G (n.276+16287A>G) c.*220+6257T>C (n.*220+6257T>C) c.873T>C (p.Leu291=) c.900T>C (p.Leu300=) c.1755T>C (p.Leu585=) c.1569T>C (p.Leu523=) c.1488T>C (p.Leu496=) c.1194T>C (p.Leu398=) c.1575T>C (p.Leu525=) | |
2 | g.48687967A>T | CA426125604 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1830T>A (p.Leu610=) c.*142T>A (n.*142T>A) c.3441+16287A>T (n.3441+16287A>T) c.*574T>A (n.*574T>A) c.1749T>A (p.Leu583=) c.276+16287A>T (n.276+16287A>T) c.*220+6257T>A (n.*220+6257T>A) c.873T>A (p.Leu291=) c.900T>A (p.Leu300=) c.1755T>A (p.Leu585=) c.1569T>A (p.Leu523=) c.1488T>A (p.Leu496=) c.1194T>A (p.Leu398=) c.1575T>A (p.Leu525=) | |
2 | g.48687968A>C | CA346744311 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1829T>G (p.Leu610Arg) c.*141T>G (n.*141T>G) c.3441+16288A>C (n.3441+16288A>C) c.*573T>G (n.*573T>G) c.1748T>G (p.Leu583Arg) c.276+16288A>C (n.276+16288A>C) c.*220+6256T>G (n.*220+6256T>G) c.872T>G (p.Leu291Arg) c.899T>G (p.Leu300Arg) c.1754T>G (p.Leu585Arg) c.1568T>G (p.Leu523Arg) c.1487T>G (p.Leu496Arg) c.1193T>G (p.Leu398Arg) c.1574T>G (p.Leu525Arg) | |
2 | g.48687968A>G | CA346744307 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1829T>C (p.Leu610Pro) c.*141T>C (n.*141T>C) c.3441+16288A>G (n.3441+16288A>G) c.*573T>C (n.*573T>C) c.1748T>C (p.Leu583Pro) c.276+16288A>G (n.276+16288A>G) c.*220+6256T>C (n.*220+6256T>C) c.872T>C (p.Leu291Pro) c.899T>C (p.Leu300Pro) c.1754T>C (p.Leu585Pro) c.1568T>C (p.Leu523Pro) c.1487T>C (p.Leu496Pro) c.1193T>C (p.Leu398Pro) c.1574T>C (p.Leu525Pro) | |
2 | g.48687968A>T | CA346744306 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1829T>A (p.Leu610His) c.*141T>A (n.*141T>A) c.3441+16288A>T (n.3441+16288A>T) c.*573T>A (n.*573T>A) c.1748T>A (p.Leu583His) c.276+16288A>T (n.276+16288A>T) c.*220+6256T>A (n.*220+6256T>A) c.872T>A (p.Leu291His) c.899T>A (p.Leu300His) c.1754T>A (p.Leu585His) c.1568T>A (p.Leu523His) c.1487T>A (p.Leu496His) c.1193T>A (p.Leu398His) c.1574T>A (p.Leu525His) | |
2 | g.48687970_48687975del | CA2580067106 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1824_1829del (p.Val609_Leu610del) c.*136_*141del (n.*136_*141del) c.3441+16290_3441+16295del (n.3441+16290_3441+16295del) c.*568_*573del (n.*568_*573del) c.1743_1748del (p.Val582_Leu583del) c.276+16290_276+16295del (n.276+16290_276+16295del) c.*220+6251_*220+6256del (n.*220+6251_*220+6256del) c.867_872del (p.Val290_Leu291del) c.894_899del (p.Val299_Leu300del) c.1749_1754del (p.Val584_Leu585del) c.1563_1568del (p.Val522_Leu523del) c.1482_1487del (p.Val495_Leu496del) c.1188_1193del (p.Val397_Leu398del) c.1569_1574del (p.Val524_Leu525del) | ClinVar dbSNP gnomAD v4 |
2 | g.48687969G>A | CA346744312 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1828C>T (p.Leu610Phe) c.*140C>T (n.*140C>T) c.3441+16289G>A (n.3441+16289G>A) c.*572C>T (n.*572C>T) c.1747C>T (p.Leu583Phe) c.276+16289G>A (n.276+16289G>A) c.*220+6255C>T (n.*220+6255C>T) c.871C>T (p.Leu291Phe) c.898C>T (p.Leu300Phe) c.1753C>T (p.Leu585Phe) c.1567C>T (p.Leu523Phe) c.1486C>T (p.Leu496Phe) c.1192C>T (p.Leu398Phe) c.1573C>T (p.Leu525Phe) | |
2 | g.48687969G>C | CA46752703 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1828C>G (p.Leu610Val) c.*140C>G (n.*140C>G) c.3441+16289G>C (n.3441+16289G>C) c.*572C>G (n.*572C>G) c.1747C>G (p.Leu583Val) c.276+16289G>C (n.276+16289G>C) c.*220+6255C>G (n.*220+6255C>G) c.871C>G (p.Leu291Val) c.898C>G (p.Leu300Val) c.1753C>G (p.Leu585Val) c.1567C>G (p.Leu523Val) c.1486C>G (p.Leu496Val) c.1192C>G (p.Leu398Val) c.1573C>G (p.Leu525Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687969G= | CA1248600924 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1828C= (p.Leu610=) c.*140C= (n.*140C=) c.3441+16289G= (n.3441+16289G=) c.*572C= (n.*572C=) c.1747C= (p.Leu583=) c.276+16289G= (n.276+16289G=) c.*220+6255C= (n.*220+6255C=) c.871C= (p.Leu291=) c.898C= (p.Leu300=) c.1753C= (p.Leu585=) c.1567C= (p.Leu523=) c.1486C= (p.Leu496=) c.1192C= (p.Leu398=) c.1573C= (p.Leu525=) | |
2 | g.48687969G>T | CA346744313 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1828C>A (p.Leu610Ile) c.*140C>A (n.*140C>A) c.3441+16289G>T (n.3441+16289G>T) c.*572C>A (n.*572C>A) c.1747C>A (p.Leu583Ile) c.276+16289G>T (n.276+16289G>T) c.*220+6255C>A (n.*220+6255C>A) c.871C>A (p.Leu291Ile) c.898C>A (p.Leu300Ile) c.1753C>A (p.Leu585Ile) c.1567C>A (p.Leu523Ile) c.1486C>A (p.Leu496Ile) c.1192C>A (p.Leu398Ile) c.1573C>A (p.Leu525Ile) | |
2 | g.48687970A= | CA1248600925 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1827T= (p.Val609=) c.*139T= (n.*139T=) c.3441+16290A= (n.3441+16290A=) c.*571T= (n.*571T=) c.1746T= (p.Val582=) c.276+16290A= (n.276+16290A=) c.*220+6254T= (n.*220+6254T=) c.870T= (p.Val290=) c.897T= (p.Val299=) c.1752T= (p.Val584=) c.1566T= (p.Val522=) c.1485T= (p.Val495=) c.1191T= (p.Val397=) c.1572T= (p.Val524=) | |
2 | g.48687970A>C | CA426125613 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1827T>G (p.Val609=) c.*139T>G (n.*139T>G) c.3441+16290A>C (n.3441+16290A>C) c.*571T>G (n.*571T>G) c.1746T>G (p.Val582=) c.276+16290A>C (n.276+16290A>C) c.*220+6254T>G (n.*220+6254T>G) c.870T>G (p.Val290=) c.897T>G (p.Val299=) c.1752T>G (p.Val584=) c.1566T>G (p.Val522=) c.1485T>G (p.Val495=) c.1191T>G (p.Val397=) c.1572T>G (p.Val524=) | |
2 | g.48687970A>G | CA426125616 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1827T>C (p.Val609=) c.*139T>C (n.*139T>C) c.3441+16290A>G (n.3441+16290A>G) c.*571T>C (n.*571T>C) c.1746T>C (p.Val582=) c.276+16290A>G (n.276+16290A>G) c.*220+6254T>C (n.*220+6254T>C) c.870T>C (p.Val290=) c.897T>C (p.Val299=) c.1752T>C (p.Val584=) c.1566T>C (p.Val522=) c.1485T>C (p.Val495=) c.1191T>C (p.Val397=) c.1572T>C (p.Val524=) | dbSNP |
2 | g.48687970A>T | CA426125620 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1827T>A (p.Val609=) c.*139T>A (n.*139T>A) c.3441+16290A>T (n.3441+16290A>T) c.*571T>A (n.*571T>A) c.1746T>A (p.Val582=) c.276+16290A>T (n.276+16290A>T) c.*220+6254T>A (n.*220+6254T>A) c.870T>A (p.Val290=) c.897T>A (p.Val299=) c.1752T>A (p.Val584=) c.1566T>A (p.Val522=) c.1485T>A (p.Val495=) c.1191T>A (p.Val397=) c.1572T>A (p.Val524=) | |
2 | g.48687971A>C | CA346744317 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1826T>G (p.Val609Gly) c.*138T>G (n.*138T>G) c.3441+16291A>C (n.3441+16291A>C) c.*570T>G (n.*570T>G) c.1745T>G (p.Val582Gly) c.276+16291A>C (n.276+16291A>C) c.*220+6253T>G (n.*220+6253T>G) c.869T>G (p.Val290Gly) c.896T>G (p.Val299Gly) c.1751T>G (p.Val584Gly) c.1565T>G (p.Val522Gly) c.1484T>G (p.Val495Gly) c.1190T>G (p.Val397Gly) c.1571T>G (p.Val524Gly) | |
2 | g.48687971A>G | CA346744322 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1826T>C (p.Val609Ala) c.*138T>C (n.*138T>C) c.3441+16291A>G (n.3441+16291A>G) c.*570T>C (n.*570T>C) c.1745T>C (p.Val582Ala) c.276+16291A>G (n.276+16291A>G) c.*220+6253T>C (n.*220+6253T>C) c.869T>C (p.Val290Ala) c.896T>C (p.Val299Ala) c.1751T>C (p.Val584Ala) c.1565T>C (p.Val522Ala) c.1484T>C (p.Val495Ala) c.1190T>C (p.Val397Ala) c.1571T>C (p.Val524Ala) | |
2 | g.48687971A>T | CA346744319 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1826T>A (p.Val609Asp) c.*138T>A (n.*138T>A) c.3441+16291A>T (n.3441+16291A>T) c.*570T>A (n.*570T>A) c.1745T>A (p.Val582Asp) c.276+16291A>T (n.276+16291A>T) c.*220+6253T>A (n.*220+6253T>A) c.869T>A (p.Val290Asp) c.896T>A (p.Val299Asp) c.1751T>A (p.Val584Asp) c.1565T>A (p.Val522Asp) c.1484T>A (p.Val495Asp) c.1190T>A (p.Val397Asp) c.1571T>A (p.Val524Asp) | |
2 | g.48687972C>A | CA346744326 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1825G>T (p.Val609Phe) c.*137G>T (n.*137G>T) c.3441+16292C>A (n.3441+16292C>A) c.*569G>T (n.*569G>T) c.1744G>T (p.Val582Phe) c.276+16292C>A (n.276+16292C>A) c.*220+6252G>T (n.*220+6252G>T) c.868G>T (p.Val290Phe) c.895G>T (p.Val299Phe) c.1750G>T (p.Val584Phe) c.1564G>T (p.Val522Phe) c.1483G>T (p.Val495Phe) c.1189G>T (p.Val397Phe) c.1570G>T (p.Val524Phe) | |
2 | g.48687972C= | CA1248600926 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1825G= (p.Val609=) c.*137G= (n.*137G=) c.3441+16292C= (n.3441+16292C=) c.*569G= (n.*569G=) c.1744G= (p.Val582=) c.276+16292C= (n.276+16292C=) c.*220+6252G= (n.*220+6252G=) c.868G= (p.Val290=) c.895G= (p.Val299=) c.1750G= (p.Val584=) c.1564G= (p.Val522=) c.1483G= (p.Val495=) c.1189G= (p.Val397=) c.1570G= (p.Val524=) | |
2 | g.48687972C>G | CA346744331 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1825G>C (p.Val609Leu) c.*137G>C (n.*137G>C) c.3441+16292C>G (n.3441+16292C>G) c.*569G>C (n.*569G>C) c.1744G>C (p.Val582Leu) c.276+16292C>G (n.276+16292C>G) c.*220+6252G>C (n.*220+6252G>C) c.868G>C (p.Val290Leu) c.895G>C (p.Val299Leu) c.1750G>C (p.Val584Leu) c.1564G>C (p.Val522Leu) c.1483G>C (p.Val495Leu) c.1189G>C (p.Val397Leu) c.1570G>C (p.Val524Leu) | dbSNP |
2 | g.48687972C>T | CA346744329 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1825G>A (p.Val609Ile) c.*137G>A (n.*137G>A) c.3441+16292C>T (n.3441+16292C>T) c.*569G>A (n.*569G>A) c.1744G>A (p.Val582Ile) c.276+16292C>T (n.276+16292C>T) c.*220+6252G>A (n.*220+6252G>A) c.868G>A (p.Val290Ile) c.895G>A (p.Val299Ile) c.1750G>A (p.Val584Ile) c.1564G>A (p.Val522Ile) c.1483G>A (p.Val495Ile) c.1189G>A (p.Val397Ile) c.1570G>A (p.Val524Ile) | dbSNP |
2 | g.48687973C>A | CA426125631 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1824G>T (p.Leu608=) c.*136G>T (n.*136G>T) c.3441+16293C>A (n.3441+16293C>A) c.*568G>T (n.*568G>T) c.1743G>T (p.Leu581=) c.276+16293C>A (n.276+16293C>A) c.*220+6251G>T (n.*220+6251G>T) c.867G>T (p.Leu289=) c.894G>T (p.Leu298=) c.1749G>T (p.Leu583=) c.1563G>T (p.Leu521=) c.1482G>T (p.Leu494=) c.1188G>T (p.Leu396=) c.1569G>T (p.Leu523=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687973C= | CA1248600927 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1824G= (p.Leu608=) c.*136G= (n.*136G=) c.3441+16293C= (n.3441+16293C=) c.*568G= (n.*568G=) c.1743G= (p.Leu581=) c.276+16293C= (n.276+16293C=) c.*220+6251G= (n.*220+6251G=) c.867G= (p.Leu289=) c.894G= (p.Leu298=) c.1749G= (p.Leu583=) c.1563G= (p.Leu521=) c.1482G= (p.Leu494=) c.1188G= (p.Leu396=) c.1569G= (p.Leu523=) | |
2 | g.48687973C>G | CA426125634 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1824G>C (p.Leu608=) c.*136G>C (n.*136G>C) c.3441+16293C>G (n.3441+16293C>G) c.*568G>C (n.*568G>C) c.1743G>C (p.Leu581=) c.276+16293C>G (n.276+16293C>G) c.*220+6251G>C (n.*220+6251G>C) c.867G>C (p.Leu289=) c.894G>C (p.Leu298=) c.1749G>C (p.Leu583=) c.1563G>C (p.Leu521=) c.1482G>C (p.Leu494=) c.1188G>C (p.Leu396=) c.1569G>C (p.Leu523=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687973C>T | CA426125633 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1824G>A (p.Leu608=) c.*136G>A (n.*136G>A) c.3441+16293C>T (n.3441+16293C>T) c.*568G>A (n.*568G>A) c.1743G>A (p.Leu581=) c.276+16293C>T (n.276+16293C>T) c.*220+6251G>A (n.*220+6251G>A) c.867G>A (p.Leu289=) c.894G>A (p.Leu298=) c.1749G>A (p.Leu583=) c.1563G>A (p.Leu521=) c.1482G>A (p.Leu494=) c.1188G>A (p.Leu396=) c.1569G>A (p.Leu523=) | |
2 | g.48687974A= | CA1248600928 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1823T= (p.Leu608=) c.*135T= (n.*135T=) c.3441+16294A= (n.3441+16294A=) c.*567T= (n.*567T=) c.1742T= (p.Leu581=) c.276+16294A= (n.276+16294A=) c.*220+6250T= (n.*220+6250T=) c.866T= (p.Leu289=) c.893T= (p.Leu298=) c.1748T= (p.Leu583=) c.1562T= (p.Leu521=) c.1481T= (p.Leu494=) c.1187T= (p.Leu396=) c.1568T= (p.Leu523=) | |
2 | g.48687974A>C | CA346744334 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1823T>G (p.Leu608Arg) c.*135T>G (n.*135T>G) c.3441+16294A>C (n.3441+16294A>C) c.*567T>G (n.*567T>G) c.1742T>G (p.Leu581Arg) c.276+16294A>C (n.276+16294A>C) c.*220+6250T>G (n.*220+6250T>G) c.866T>G (p.Leu289Arg) c.893T>G (p.Leu298Arg) c.1748T>G (p.Leu583Arg) c.1562T>G (p.Leu521Arg) c.1481T>G (p.Leu494Arg) c.1187T>G (p.Leu396Arg) c.1568T>G (p.Leu523Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687974A>G | CA346744336 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1823T>C (p.Leu608Pro) c.*135T>C (n.*135T>C) c.3441+16294A>G (n.3441+16294A>G) c.*567T>C (n.*567T>C) c.1742T>C (p.Leu581Pro) c.276+16294A>G (n.276+16294A>G) c.*220+6250T>C (n.*220+6250T>C) c.866T>C (p.Leu289Pro) c.893T>C (p.Leu298Pro) c.1748T>C (p.Leu583Pro) c.1562T>C (p.Leu521Pro) c.1481T>C (p.Leu494Pro) c.1187T>C (p.Leu396Pro) c.1568T>C (p.Leu523Pro) | dbSNP |
2 | g.48687974A>T | CA346744338 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1823T>A (p.Leu608Gln) c.*135T>A (n.*135T>A) c.3441+16294A>T (n.3441+16294A>T) c.*567T>A (n.*567T>A) c.1742T>A (p.Leu581Gln) c.276+16294A>T (n.276+16294A>T) c.*220+6250T>A (n.*220+6250T>A) c.866T>A (p.Leu289Gln) c.893T>A (p.Leu298Gln) c.1748T>A (p.Leu583Gln) c.1562T>A (p.Leu521Gln) c.1481T>A (p.Leu494Gln) c.1187T>A (p.Leu396Gln) c.1568T>A (p.Leu523Gln) | |
2 | g.48687975G>A | CA426125638 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1822C>T (p.Leu608=) c.*134C>T (n.*134C>T) c.3441+16295G>A (n.3441+16295G>A) c.*566C>T (n.*566C>T) c.1741C>T (p.Leu581=) c.276+16295G>A (n.276+16295G>A) c.*220+6249C>T (n.*220+6249C>T) c.865C>T (p.Leu289=) c.892C>T (p.Leu298=) c.1747C>T (p.Leu583=) c.1561C>T (p.Leu521=) c.1480C>T (p.Leu494=) c.1186C>T (p.Leu396=) c.1567C>T (p.Leu523=) | COSMIC |
2 | g.48687975G>C | CA346744340 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1822C>G (p.Leu608Val) c.*134C>G (n.*134C>G) c.3441+16295G>C (n.3441+16295G>C) c.*566C>G (n.*566C>G) c.1741C>G (p.Leu581Val) c.276+16295G>C (n.276+16295G>C) c.*220+6249C>G (n.*220+6249C>G) c.865C>G (p.Leu289Val) c.892C>G (p.Leu298Val) c.1747C>G (p.Leu583Val) c.1561C>G (p.Leu521Val) c.1480C>G (p.Leu494Val) c.1186C>G (p.Leu396Val) c.1567C>G (p.Leu523Val) | |
2 | g.48687975G>T | CA346744342 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1822C>A (p.Leu608Met) c.*134C>A (n.*134C>A) c.3441+16295G>T (n.3441+16295G>T) c.*566C>A (n.*566C>A) c.1741C>A (p.Leu581Met) c.276+16295G>T (n.276+16295G>T) c.*220+6249C>A (n.*220+6249C>A) c.865C>A (p.Leu289Met) c.892C>A (p.Leu298Met) c.1747C>A (p.Leu583Met) c.1561C>A (p.Leu521Met) c.1480C>A (p.Leu494Met) c.1186C>A (p.Leu396Met) c.1567C>A (p.Leu523Met) | |
2 | g.48687976T>A | CA346744344 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1821A>T (p.Leu607Phe) c.*133A>T (n.*133A>T) c.3441+16296T>A (n.3441+16296T>A) c.*565A>T (n.*565A>T) c.1740A>T (p.Leu580Phe) c.276+16296T>A (n.276+16296T>A) c.*220+6248A>T (n.*220+6248A>T) c.864A>T (p.Leu288Phe) c.891A>T (p.Leu297Phe) c.1746A>T (p.Leu582Phe) c.1560A>T (p.Leu520Phe) c.1479A>T (p.Leu493Phe) c.1185A>T (p.Leu395Phe) c.1566A>T (p.Leu522Phe) | |
2 | g.48687976T>C | CA1652982 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1821A>G (p.Leu607=) c.*133A>G (n.*133A>G) c.3441+16296T>C (n.3441+16296T>C) c.*565A>G (n.*565A>G) c.1740A>G (p.Leu580=) c.276+16296T>C (n.276+16296T>C) c.*220+6248A>G (n.*220+6248A>G) c.864A>G (p.Leu288=) c.891A>G (p.Leu297=) c.1746A>G (p.Leu582=) c.1560A>G (p.Leu520=) c.1479A>G (p.Leu493=) c.1185A>G (p.Leu395=) c.1566A>G (p.Leu522=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687976T>G | CA346744350 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1821A>C (p.Leu607Phe) c.*133A>C (n.*133A>C) c.3441+16296T>G (n.3441+16296T>G) c.*565A>C (n.*565A>C) c.1740A>C (p.Leu580Phe) c.276+16296T>G (n.276+16296T>G) c.*220+6248A>C (n.*220+6248A>C) c.864A>C (p.Leu288Phe) c.891A>C (p.Leu297Phe) c.1746A>C (p.Leu582Phe) c.1560A>C (p.Leu520Phe) c.1479A>C (p.Leu493Phe) c.1185A>C (p.Leu395Phe) c.1566A>C (p.Leu522Phe) | |
2 | g.48687976T= | CA1248600929 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1821A= (p.Leu607=) c.*133A= (n.*133A=) c.3441+16296T= (n.3441+16296T=) c.*565A= (n.*565A=) c.1740A= (p.Leu580=) c.276+16296T= (n.276+16296T=) c.*220+6248A= (n.*220+6248A=) c.864A= (p.Leu288=) c.891A= (p.Leu297=) c.1746A= (p.Leu582=) c.1560A= (p.Leu520=) c.1479A= (p.Leu493=) c.1185A= (p.Leu395=) c.1566A= (p.Leu522=) | |
2 | g.48687977A>C | CA346744352 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1820T>G (p.Leu607Ter) c.*132T>G (n.*132T>G) c.3441+16297A>C (n.3441+16297A>C) c.*564T>G (n.*564T>G) c.1739T>G (p.Leu580Ter) c.276+16297A>C (n.276+16297A>C) c.*220+6247T>G (n.*220+6247T>G) c.863T>G (p.Leu288Ter) c.890T>G (p.Leu297Ter) c.1745T>G (p.Leu582Ter) c.1559T>G (p.Leu520Ter) c.1478T>G (p.Leu493Ter) c.1184T>G (p.Leu395Ter) c.1565T>G (p.Leu522Ter) | |
2 | g.48687977A>G | CA346744355 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1820T>C (p.Leu607Ser) c.*132T>C (n.*132T>C) c.3441+16297A>G (n.3441+16297A>G) c.*564T>C (n.*564T>C) c.1739T>C (p.Leu580Ser) c.276+16297A>G (n.276+16297A>G) c.*220+6247T>C (n.*220+6247T>C) c.863T>C (p.Leu288Ser) c.890T>C (p.Leu297Ser) c.1745T>C (p.Leu582Ser) c.1559T>C (p.Leu520Ser) c.1478T>C (p.Leu493Ser) c.1184T>C (p.Leu395Ser) c.1565T>C (p.Leu522Ser) | |
2 | g.48687977A>T | CA346744358 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1820T>A (p.Leu607Ter) c.*132T>A (n.*132T>A) c.3441+16297A>T (n.3441+16297A>T) c.*564T>A (n.*564T>A) c.1739T>A (p.Leu580Ter) c.276+16297A>T (n.276+16297A>T) c.*220+6247T>A (n.*220+6247T>A) c.863T>A (p.Leu288Ter) c.890T>A (p.Leu297Ter) c.1745T>A (p.Leu582Ter) c.1559T>A (p.Leu520Ter) c.1478T>A (p.Leu493Ter) c.1184T>A (p.Leu395Ter) c.1565T>A (p.Leu522Ter) | |
2 | g.48687978A= | CA1248600930 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1819T= (p.Leu607=) c.*131T= (n.*131T=) c.3441+16298A= (n.3441+16298A=) c.*563T= (n.*563T=) c.1738T= (p.Leu580=) c.276+16298A= (n.276+16298A=) c.*220+6246T= (n.*220+6246T=) c.862T= (p.Leu288=) c.889T= (p.Leu297=) c.1744T= (p.Leu582=) c.1558T= (p.Leu520=) c.1477T= (p.Leu493=) c.1183T= (p.Leu395=) c.1564T= (p.Leu522=) | |
2 | g.48687978A>C | CA1652983 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1819T>G (p.Leu607Val) c.*131T>G (n.*131T>G) c.3441+16298A>C (n.3441+16298A>C) c.*563T>G (n.*563T>G) c.1738T>G (p.Leu580Val) c.276+16298A>C (n.276+16298A>C) c.*220+6246T>G (n.*220+6246T>G) c.862T>G (p.Leu288Val) c.889T>G (p.Leu297Val) c.1744T>G (p.Leu582Val) c.1558T>G (p.Leu520Val) c.1477T>G (p.Leu493Val) c.1183T>G (p.Leu395Val) c.1564T>G (p.Leu522Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687978A>G | CA426125655 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1819T>C (p.Leu607=) c.*131T>C (n.*131T>C) c.3441+16298A>G (n.3441+16298A>G) c.*563T>C (n.*563T>C) c.1738T>C (p.Leu580=) c.276+16298A>G (n.276+16298A>G) c.*220+6246T>C (n.*220+6246T>C) c.862T>C (p.Leu288=) c.889T>C (p.Leu297=) c.1744T>C (p.Leu582=) c.1558T>C (p.Leu520=) c.1477T>C (p.Leu493=) c.1183T>C (p.Leu395=) c.1564T>C (p.Leu522=) | |
2 | g.48687978A>T | CA346744361 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1819T>A (p.Leu607Ile) c.*131T>A (n.*131T>A) c.3441+16298A>T (n.3441+16298A>T) c.*563T>A (n.*563T>A) c.1738T>A (p.Leu580Ile) c.276+16298A>T (n.276+16298A>T) c.*220+6246T>A (n.*220+6246T>A) c.862T>A (p.Leu288Ile) c.889T>A (p.Leu297Ile) c.1744T>A (p.Leu582Ile) c.1558T>A (p.Leu520Ile) c.1477T>A (p.Leu493Ile) c.1183T>A (p.Leu395Ile) c.1564T>A (p.Leu522Ile) | |
2 | g.48687979A= | CA1248600931 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1818T= (p.Val606=) c.*130T= (n.*130T=) c.3441+16299A= (n.3441+16299A=) c.*562T= (n.*562T=) c.1737T= (p.Val579=) c.276+16299A= (n.276+16299A=) c.*220+6245T= (n.*220+6245T=) c.861T= (p.Val287=) c.888T= (p.Val296=) c.1743T= (p.Val581=) c.1557T= (p.Val519=) c.1476T= (p.Val492=) c.1182T= (p.Val394=) c.1563T= (p.Val521=) | |
2 | g.48687979A>C | CA426125658 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1818T>G (p.Val606=) c.*130T>G (n.*130T>G) c.3441+16299A>C (n.3441+16299A>C) c.*562T>G (n.*562T>G) c.1737T>G (p.Val579=) c.276+16299A>C (n.276+16299A>C) c.*220+6245T>G (n.*220+6245T>G) c.861T>G (p.Val287=) c.888T>G (p.Val296=) c.1743T>G (p.Val581=) c.1557T>G (p.Val519=) c.1476T>G (p.Val492=) c.1182T>G (p.Val394=) c.1563T>G (p.Val521=) | |
2 | g.48687979A>G | CA426125659 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1818T>C (p.Val606=) c.*130T>C (n.*130T>C) c.3441+16299A>G (n.3441+16299A>G) c.*562T>C (n.*562T>C) c.1737T>C (p.Val579=) c.276+16299A>G (n.276+16299A>G) c.*220+6245T>C (n.*220+6245T>C) c.861T>C (p.Val287=) c.888T>C (p.Val296=) c.1743T>C (p.Val581=) c.1557T>C (p.Val519=) c.1476T>C (p.Val492=) c.1182T>C (p.Val394=) c.1563T>C (p.Val521=) | dbSNP gnomAD v4 |
2 | g.48687979A>T | CA426125660 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1818T>A (p.Val606=) c.*130T>A (n.*130T>A) c.3441+16299A>T (n.3441+16299A>T) c.*562T>A (n.*562T>A) c.1737T>A (p.Val579=) c.276+16299A>T (n.276+16299A>T) c.*220+6245T>A (n.*220+6245T>A) c.861T>A (p.Val287=) c.888T>A (p.Val296=) c.1743T>A (p.Val581=) c.1557T>A (p.Val519=) c.1476T>A (p.Val492=) c.1182T>A (p.Val394=) c.1563T>A (p.Val521=) | |
2 | g.48687980A= | CA1248600932 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1817T= (p.Val606=) c.*129T= (n.*129T=) c.3441+16300A= (n.3441+16300A=) c.*561T= (n.*561T=) c.1736T= (p.Val579=) c.276+16300A= (n.276+16300A=) c.*220+6244T= (n.*220+6244T=) c.860T= (p.Val287=) c.887T= (p.Val296=) c.1742T= (p.Val581=) c.1556T= (p.Val519=) c.1475T= (p.Val492=) c.1181T= (p.Val394=) c.1562T= (p.Val521=) | |
2 | g.48687980A>C | CA346744365 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1817T>G (p.Val606Gly) c.*129T>G (n.*129T>G) c.3441+16300A>C (n.3441+16300A>C) c.*561T>G (n.*561T>G) c.1736T>G (p.Val579Gly) c.276+16300A>C (n.276+16300A>C) c.*220+6244T>G (n.*220+6244T>G) c.860T>G (p.Val287Gly) c.887T>G (p.Val296Gly) c.1742T>G (p.Val581Gly) c.1556T>G (p.Val519Gly) c.1475T>G (p.Val492Gly) c.1181T>G (p.Val394Gly) c.1562T>G (p.Val521Gly) | |
2 | g.48687980A>G | CA1652984 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1817T>C (p.Val606Ala) c.*129T>C (n.*129T>C) c.3441+16300A>G (n.3441+16300A>G) c.*561T>C (n.*561T>C) c.1736T>C (p.Val579Ala) c.276+16300A>G (n.276+16300A>G) c.*220+6244T>C (n.*220+6244T>C) c.860T>C (p.Val287Ala) c.887T>C (p.Val296Ala) c.1742T>C (p.Val581Ala) c.1556T>C (p.Val519Ala) c.1475T>C (p.Val492Ala) c.1181T>C (p.Val394Ala) c.1562T>C (p.Val521Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687980A>T | CA346744370 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1817T>A (p.Val606Asp) c.*129T>A (n.*129T>A) c.3441+16300A>T (n.3441+16300A>T) c.*561T>A (n.*561T>A) c.1736T>A (p.Val579Asp) c.276+16300A>T (n.276+16300A>T) c.*220+6244T>A (n.*220+6244T>A) c.860T>A (p.Val287Asp) c.887T>A (p.Val296Asp) c.1742T>A (p.Val581Asp) c.1556T>A (p.Val519Asp) c.1475T>A (p.Val492Asp) c.1181T>A (p.Val394Asp) c.1562T>A (p.Val521Asp) | |
2 | g.48687981C>A | CA346744373 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1816G>T (p.Val606Phe) c.*128G>T (n.*128G>T) c.3441+16301C>A (n.3441+16301C>A) c.*560G>T (n.*560G>T) c.1735G>T (p.Val579Phe) c.276+16301C>A (n.276+16301C>A) c.*220+6243G>T (n.*220+6243G>T) c.859G>T (p.Val287Phe) c.886G>T (p.Val296Phe) c.1741G>T (p.Val581Phe) c.1555G>T (p.Val519Phe) c.1474G>T (p.Val492Phe) c.1180G>T (p.Val394Phe) c.1561G>T (p.Val521Phe) | |
2 | g.48687981C= | CA1248600933 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1816G= (p.Val606=) c.*128G= (n.*128G=) c.3441+16301C= (n.3441+16301C=) c.*560G= (n.*560G=) c.1735G= (p.Val579=) c.276+16301C= (n.276+16301C=) c.*220+6243G= (n.*220+6243G=) c.859G= (p.Val287=) c.886G= (p.Val296=) c.1741G= (p.Val581=) c.1555G= (p.Val519=) c.1474G= (p.Val492=) c.1180G= (p.Val394=) c.1561G= (p.Val521=) | |
2 | g.48687981C>G | CA346744375 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1816G>C (p.Val606Leu) c.*128G>C (n.*128G>C) c.3441+16301C>G (n.3441+16301C>G) c.*560G>C (n.*560G>C) c.1735G>C (p.Val579Leu) c.276+16301C>G (n.276+16301C>G) c.*220+6243G>C (n.*220+6243G>C) c.859G>C (p.Val287Leu) c.886G>C (p.Val296Leu) c.1741G>C (p.Val581Leu) c.1555G>C (p.Val519Leu) c.1474G>C (p.Val492Leu) c.1180G>C (p.Val394Leu) c.1561G>C (p.Val521Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687981C>T | CA346744377 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1816G>A (p.Val606Ile) c.*128G>A (n.*128G>A) c.3441+16301C>T (n.3441+16301C>T) c.*560G>A (n.*560G>A) c.1735G>A (p.Val579Ile) c.276+16301C>T (n.276+16301C>T) c.*220+6243G>A (n.*220+6243G>A) c.859G>A (p.Val287Ile) c.886G>A (p.Val296Ile) c.1741G>A (p.Val581Ile) c.1555G>A (p.Val519Ile) c.1474G>A (p.Val492Ile) c.1180G>A (p.Val394Ile) c.1561G>A (p.Val521Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687982T>A | CA346744379 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1815A>T (p.Lys605Asn) c.*127A>T (n.*127A>T) c.3441+16302T>A (n.3441+16302T>A) c.*559A>T (n.*559A>T) c.1734A>T (p.Lys578Asn) c.276+16302T>A (n.276+16302T>A) c.*220+6242A>T (n.*220+6242A>T) c.858A>T (p.Lys286Asn) c.885A>T (p.Lys295Asn) c.1740A>T (p.Lys580Asn) c.1554A>T (p.Lys518Asn) c.1473A>T (p.Lys491Asn) c.1179A>T (p.Lys393Asn) c.1560A>T (p.Lys520Asn) | |
2 | g.48687982T>C | CA426125667 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1815A>G (p.Lys605=) c.*127A>G (n.*127A>G) c.3441+16302T>C (n.3441+16302T>C) c.*559A>G (n.*559A>G) c.1734A>G (p.Lys578=) c.276+16302T>C (n.276+16302T>C) c.*220+6242A>G (n.*220+6242A>G) c.858A>G (p.Lys286=) c.885A>G (p.Lys295=) c.1740A>G (p.Lys580=) c.1554A>G (p.Lys518=) c.1473A>G (p.Lys491=) c.1179A>G (p.Lys393=) c.1560A>G (p.Lys520=) | |
2 | g.48687982T>G | CA346744382 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1815A>C (p.Lys605Asn) c.*127A>C (n.*127A>C) c.3441+16302T>G (n.3441+16302T>G) c.*559A>C (n.*559A>C) c.1734A>C (p.Lys578Asn) c.276+16302T>G (n.276+16302T>G) c.*220+6242A>C (n.*220+6242A>C) c.858A>C (p.Lys286Asn) c.885A>C (p.Lys295Asn) c.1740A>C (p.Lys580Asn) c.1554A>C (p.Lys518Asn) c.1473A>C (p.Lys491Asn) c.1179A>C (p.Lys393Asn) c.1560A>C (p.Lys520Asn) | COSMIC |
2 | g.48687983T>A | CA346744384 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1814A>T (p.Lys605Ile) c.*126A>T (n.*126A>T) c.3441+16303T>A (n.3441+16303T>A) c.*558A>T (n.*558A>T) c.1733A>T (p.Lys578Ile) c.276+16303T>A (n.276+16303T>A) c.*220+6241A>T (n.*220+6241A>T) c.857A>T (p.Lys286Ile) c.884A>T (p.Lys295Ile) c.1739A>T (p.Lys580Ile) c.1553A>T (p.Lys518Ile) c.1472A>T (p.Lys491Ile) c.1178A>T (p.Lys393Ile) c.1559A>T (p.Lys520Ile) | |
2 | g.48687983T>C | CA346744387 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1814A>G (p.Lys605Arg) c.*126A>G (n.*126A>G) c.3441+16303T>C (n.3441+16303T>C) c.*558A>G (n.*558A>G) c.1733A>G (p.Lys578Arg) c.276+16303T>C (n.276+16303T>C) c.*220+6241A>G (n.*220+6241A>G) c.857A>G (p.Lys286Arg) c.884A>G (p.Lys295Arg) c.1739A>G (p.Lys580Arg) c.1553A>G (p.Lys518Arg) c.1472A>G (p.Lys491Arg) c.1178A>G (p.Lys393Arg) c.1559A>G (p.Lys520Arg) | |
2 | g.48687983T>G | CA346744391 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1814A>C (p.Lys605Thr) c.*126A>C (n.*126A>C) c.3441+16303T>G (n.3441+16303T>G) c.*558A>C (n.*558A>C) c.1733A>C (p.Lys578Thr) c.276+16303T>G (n.276+16303T>G) c.*220+6241A>C (n.*220+6241A>C) c.857A>C (p.Lys286Thr) c.884A>C (p.Lys295Thr) c.1739A>C (p.Lys580Thr) c.1553A>C (p.Lys518Thr) c.1472A>C (p.Lys491Thr) c.1178A>C (p.Lys393Thr) c.1559A>C (p.Lys520Thr) | |
2 | g.48687984T>A | CA346744403 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1813A>T (p.Lys605Ter) c.*125A>T (n.*125A>T) c.3441+16304T>A (n.3441+16304T>A) c.*557A>T (n.*557A>T) c.1732A>T (p.Lys578Ter) c.276+16304T>A (n.276+16304T>A) c.*220+6240A>T (n.*220+6240A>T) c.856A>T (p.Lys286Ter) c.883A>T (p.Lys295Ter) c.1738A>T (p.Lys580Ter) c.1552A>T (p.Lys518Ter) c.1471A>T (p.Lys491Ter) c.1177A>T (p.Lys393Ter) c.1558A>T (p.Lys520Ter) | gnomAD v4 |
2 | g.48687984T>C | CA346744401 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1813A>G (p.Lys605Glu) c.*125A>G (n.*125A>G) c.3441+16304T>C (n.3441+16304T>C) c.*557A>G (n.*557A>G) c.1732A>G (p.Lys578Glu) c.276+16304T>C (n.276+16304T>C) c.*220+6240A>G (n.*220+6240A>G) c.856A>G (p.Lys286Glu) c.883A>G (p.Lys295Glu) c.1738A>G (p.Lys580Glu) c.1552A>G (p.Lys518Glu) c.1471A>G (p.Lys491Glu) c.1177A>G (p.Lys393Glu) c.1558A>G (p.Lys520Glu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.48687984T>G | CA346744395 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1813A>C (p.Lys605Gln) c.*125A>C (n.*125A>C) c.3441+16304T>G (n.3441+16304T>G) c.*557A>C (n.*557A>C) c.1732A>C (p.Lys578Gln) c.276+16304T>G (n.276+16304T>G) c.*220+6240A>C (n.*220+6240A>C) c.856A>C (p.Lys286Gln) c.883A>C (p.Lys295Gln) c.1738A>C (p.Lys580Gln) c.1552A>C (p.Lys518Gln) c.1471A>C (p.Lys491Gln) c.1177A>C (p.Lys393Gln) c.1558A>C (p.Lys520Gln) | |
2 | g.48687984T= | CA1248600934 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1813A= (p.Lys605=) c.*125A= (n.*125A=) c.3441+16304T= (n.3441+16304T=) c.*557A= (n.*557A=) c.1732A= (p.Lys578=) c.276+16304T= (n.276+16304T=) c.*220+6240A= (n.*220+6240A=) c.856A= (p.Lys286=) c.883A= (p.Lys295=) c.1738A= (p.Lys580=) c.1552A= (p.Lys518=) c.1471A= (p.Lys491=) c.1177A= (p.Lys393=) c.1558A= (p.Lys520=) | |
2 | g.48687985A>C | CA426125680 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1812T>G (p.Ser604=) c.*124T>G (n.*124T>G) c.3441+16305A>C (n.3441+16305A>C) c.*556T>G (n.*556T>G) c.1731T>G (p.Ser577=) c.276+16305A>C (n.276+16305A>C) c.*220+6239T>G (n.*220+6239T>G) c.855T>G (p.Ser285=) c.882T>G (p.Ser294=) c.1737T>G (p.Ser579=) c.1551T>G (p.Ser517=) c.1470T>G (p.Ser490=) c.1176T>G (p.Ser392=) c.1557T>G (p.Ser519=) | |
2 | g.48687985A>G | CA426125681 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1812T>C (p.Ser604=) c.*124T>C (n.*124T>C) c.3441+16305A>G (n.3441+16305A>G) c.*556T>C (n.*556T>C) c.1731T>C (p.Ser577=) c.276+16305A>G (n.276+16305A>G) c.*220+6239T>C (n.*220+6239T>C) c.855T>C (p.Ser285=) c.882T>C (p.Ser294=) c.1737T>C (p.Ser579=) c.1551T>C (p.Ser517=) c.1470T>C (p.Ser490=) c.1176T>C (p.Ser392=) c.1557T>C (p.Ser519=) | |
2 | g.48687985A>T | CA426125682 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1812T>A (p.Ser604=) c.*124T>A (n.*124T>A) c.3441+16305A>T (n.3441+16305A>T) c.*556T>A (n.*556T>A) c.1731T>A (p.Ser577=) c.276+16305A>T (n.276+16305A>T) c.*220+6239T>A (n.*220+6239T>A) c.855T>A (p.Ser285=) c.882T>A (p.Ser294=) c.1737T>A (p.Ser579=) c.1551T>A (p.Ser517=) c.1470T>A (p.Ser490=) c.1176T>A (p.Ser392=) c.1557T>A (p.Ser519=) | |
2 | g.48687986del | CA2576963396 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1811del (p.Ser604LeufsTer?) c.*123del (n.*123del) c.3441+16306del (n.3441+16306del) c.*555del (n.*555del) c.1730del (p.Ser577LeufsTer?) c.276+16306del (n.276+16306del) c.*220+6238del (n.*220+6238del) c.854del (p.Ser285LeufsTer?) c.881del (p.Ser294LeufsTer?) c.1736del (p.Ser579LeufsTer?) c.1550del (p.Ser517LeufsTer?) c.1469del (p.Ser490LeufsTer?) c.1175del (p.Ser392LeufsTer?) c.1556del (p.Ser519LeufsTer?) | |
2 | g.48687986G>A | CA346744405 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1811C>T (p.Ser604Phe) c.*123C>T (n.*123C>T) c.3441+16306G>A (n.3441+16306G>A) c.*555C>T (n.*555C>T) c.1730C>T (p.Ser577Phe) c.276+16306G>A (n.276+16306G>A) c.*220+6238C>T (n.*220+6238C>T) c.854C>T (p.Ser285Phe) c.881C>T (p.Ser294Phe) c.1736C>T (p.Ser579Phe) c.1550C>T (p.Ser517Phe) c.1469C>T (p.Ser490Phe) c.1175C>T (p.Ser392Phe) c.1556C>T (p.Ser519Phe) | gnomAD v4 COSMIC |
2 | g.48687986G>C | CA346744407 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1811C>G (p.Ser604Cys) c.*123C>G (n.*123C>G) c.3441+16306G>C (n.3441+16306G>C) c.*555C>G (n.*555C>G) c.1730C>G (p.Ser577Cys) c.276+16306G>C (n.276+16306G>C) c.*220+6238C>G (n.*220+6238C>G) c.854C>G (p.Ser285Cys) c.881C>G (p.Ser294Cys) c.1736C>G (p.Ser579Cys) c.1550C>G (p.Ser517Cys) c.1469C>G (p.Ser490Cys) c.1175C>G (p.Ser392Cys) c.1556C>G (p.Ser519Cys) | |
2 | g.48687986G>T | CA346744409 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1811C>A (p.Ser604Tyr) c.*123C>A (n.*123C>A) c.3441+16306G>T (n.3441+16306G>T) c.*555C>A (n.*555C>A) c.1730C>A (p.Ser577Tyr) c.276+16306G>T (n.276+16306G>T) c.*220+6238C>A (n.*220+6238C>A) c.854C>A (p.Ser285Tyr) c.881C>A (p.Ser294Tyr) c.1736C>A (p.Ser579Tyr) c.1550C>A (p.Ser517Tyr) c.1469C>A (p.Ser490Tyr) c.1175C>A (p.Ser392Tyr) c.1556C>A (p.Ser519Tyr) | |
2 | g.48687987A= | CA1248600935 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1810T= (p.Ser604=) c.*122T= (n.*122T=) c.3441+16307A= (n.3441+16307A=) c.*554T= (n.*554T=) c.1729T= (p.Ser577=) c.276+16307A= (n.276+16307A=) c.*220+6237T= (n.*220+6237T=) c.853T= (p.Ser285=) c.880T= (p.Ser294=) c.1735T= (p.Ser579=) c.1549T= (p.Ser517=) c.1468T= (p.Ser490=) c.1174T= (p.Ser392=) c.1555T= (p.Ser519=) | |
2 | g.48687987A>C | CA46752716 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1810T>G (p.Ser604Ala) c.*122T>G (n.*122T>G) c.3441+16307A>C (n.3441+16307A>C) c.*554T>G (n.*554T>G) c.1729T>G (p.Ser577Ala) c.276+16307A>C (n.276+16307A>C) c.*220+6237T>G (n.*220+6237T>G) c.853T>G (p.Ser285Ala) c.880T>G (p.Ser294Ala) c.1735T>G (p.Ser579Ala) c.1549T>G (p.Ser517Ala) c.1468T>G (p.Ser490Ala) c.1174T>G (p.Ser392Ala) c.1555T>G (p.Ser519Ala) | dbSNP |
2 | g.48687987A>G | CA346744415 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1810T>C (p.Ser604Pro) c.*122T>C (n.*122T>C) c.3441+16307A>G (n.3441+16307A>G) c.*554T>C (n.*554T>C) c.1729T>C (p.Ser577Pro) c.276+16307A>G (n.276+16307A>G) c.*220+6237T>C (n.*220+6237T>C) c.853T>C (p.Ser285Pro) c.880T>C (p.Ser294Pro) c.1735T>C (p.Ser579Pro) c.1549T>C (p.Ser517Pro) c.1468T>C (p.Ser490Pro) c.1174T>C (p.Ser392Pro) c.1555T>C (p.Ser519Pro) | |
2 | g.48687987A>T | CA346744416 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1810T>A (p.Ser604Thr) c.*122T>A (n.*122T>A) c.3441+16307A>T (n.3441+16307A>T) c.*554T>A (n.*554T>A) c.1729T>A (p.Ser577Thr) c.276+16307A>T (n.276+16307A>T) c.*220+6237T>A (n.*220+6237T>A) c.853T>A (p.Ser285Thr) c.880T>A (p.Ser294Thr) c.1735T>A (p.Ser579Thr) c.1549T>A (p.Ser517Thr) c.1468T>A (p.Ser490Thr) c.1174T>A (p.Ser392Thr) c.1555T>A (p.Ser519Thr) | |
2 | g.48687988G>A | CA426125694 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1809C>T (p.Asn603=) c.*121C>T (n.*121C>T) c.3441+16308G>A (n.3441+16308G>A) c.*553C>T (n.*553C>T) c.1728C>T (p.Asn576=) c.276+16308G>A (n.276+16308G>A) c.*220+6236C>T (n.*220+6236C>T) c.852C>T (p.Asn284=) c.879C>T (p.Asn293=) c.1734C>T (p.Asn578=) c.1548C>T (p.Asn516=) c.1467C>T (p.Asn489=) c.1173C>T (p.Asn391=) c.1554C>T (p.Asn518=) | |
2 | g.48687988G>C | CA346744418 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1809C>G (p.Asn603Lys) c.*121C>G (n.*121C>G) c.3441+16308G>C (n.3441+16308G>C) c.*553C>G (n.*553C>G) c.1728C>G (p.Asn576Lys) c.276+16308G>C (n.276+16308G>C) c.*220+6236C>G (n.*220+6236C>G) c.852C>G (p.Asn284Lys) c.879C>G (p.Asn293Lys) c.1734C>G (p.Asn578Lys) c.1548C>G (p.Asn516Lys) c.1467C>G (p.Asn489Lys) c.1173C>G (p.Asn391Lys) c.1554C>G (p.Asn518Lys) | |
2 | g.48687988G>T | CA346744420 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1809C>A (p.Asn603Lys) c.*121C>A (n.*121C>A) c.3441+16308G>T (n.3441+16308G>T) c.*553C>A (n.*553C>A) c.1728C>A (p.Asn576Lys) c.276+16308G>T (n.276+16308G>T) c.*220+6236C>A (n.*220+6236C>A) c.852C>A (p.Asn284Lys) c.879C>A (p.Asn293Lys) c.1734C>A (p.Asn578Lys) c.1548C>A (p.Asn516Lys) c.1467C>A (p.Asn489Lys) c.1173C>A (p.Asn391Lys) c.1554C>A (p.Asn518Lys) | |
2 | g.48687989T>A | CA346744421 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1808A>T (p.Asn603Ile) c.*120A>T (n.*120A>T) c.3441+16309T>A (n.3441+16309T>A) c.*552A>T (n.*552A>T) c.1727A>T (p.Asn576Ile) c.276+16309T>A (n.276+16309T>A) c.*220+6235A>T (n.*220+6235A>T) c.851A>T (p.Asn284Ile) c.878A>T (p.Asn293Ile) c.1733A>T (p.Asn578Ile) c.1547A>T (p.Asn516Ile) c.1466A>T (p.Asn489Ile) c.1172A>T (p.Asn391Ile) c.1553A>T (p.Asn518Ile) | |
2 | g.48687989T>C | CA346744424 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1808A>G (p.Asn603Ser) c.*120A>G (n.*120A>G) c.3441+16309T>C (n.3441+16309T>C) c.*552A>G (n.*552A>G) c.1727A>G (p.Asn576Ser) c.276+16309T>C (n.276+16309T>C) c.*220+6235A>G (n.*220+6235A>G) c.851A>G (p.Asn284Ser) c.878A>G (p.Asn293Ser) c.1733A>G (p.Asn578Ser) c.1547A>G (p.Asn516Ser) c.1466A>G (p.Asn489Ser) c.1172A>G (p.Asn391Ser) c.1553A>G (p.Asn518Ser) | gnomAD v4 |
2 | g.48687989T>G | CA346744425 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1808A>C (p.Asn603Thr) c.*120A>C (n.*120A>C) c.3441+16309T>G (n.3441+16309T>G) c.*552A>C (n.*552A>C) c.1727A>C (p.Asn576Thr) c.276+16309T>G (n.276+16309T>G) c.*220+6235A>C (n.*220+6235A>C) c.851A>C (p.Asn284Thr) c.878A>C (p.Asn293Thr) c.1733A>C (p.Asn578Thr) c.1547A>C (p.Asn516Thr) c.1466A>C (p.Asn489Thr) c.1172A>C (p.Asn391Thr) c.1553A>C (p.Asn518Thr) | dbSNP |
2 | g.48687989T= | CA1248600936 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1808A= (p.Asn603=) c.*120A= (n.*120A=) c.3441+16309T= (n.3441+16309T=) c.*552A= (n.*552A=) c.1727A= (p.Asn576=) c.276+16309T= (n.276+16309T=) c.*220+6235A= (n.*220+6235A=) c.851A= (p.Asn284=) c.878A= (p.Asn293=) c.1733A= (p.Asn578=) c.1547A= (p.Asn516=) c.1466A= (p.Asn489=) c.1172A= (p.Asn391=) c.1553A= (p.Asn518=) | |
2 | g.48687990T>A | CA346744433 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1807A>T (p.Asn603Tyr) c.*119A>T (n.*119A>T) c.3441+16310T>A (n.3441+16310T>A) c.*551A>T (n.*551A>T) c.1726A>T (p.Asn576Tyr) c.276+16310T>A (n.276+16310T>A) c.*220+6234A>T (n.*220+6234A>T) c.850A>T (p.Asn284Tyr) c.877A>T (p.Asn293Tyr) c.1732A>T (p.Asn578Tyr) c.1546A>T (p.Asn516Tyr) c.1465A>T (p.Asn489Tyr) c.1171A>T (p.Asn391Tyr) c.1552A>T (p.Asn518Tyr) | |
2 | g.48687990T>C | CA346744430 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1807A>G (p.Asn603Asp) c.*119A>G (n.*119A>G) c.3441+16310T>C (n.3441+16310T>C) c.*551A>G (n.*551A>G) c.1726A>G (p.Asn576Asp) c.276+16310T>C (n.276+16310T>C) c.*220+6234A>G (n.*220+6234A>G) c.850A>G (p.Asn284Asp) c.877A>G (p.Asn293Asp) c.1732A>G (p.Asn578Asp) c.1546A>G (p.Asn516Asp) c.1465A>G (p.Asn489Asp) c.1171A>G (p.Asn391Asp) c.1552A>G (p.Asn518Asp) | |
2 | g.48687990T>G | CA346744428 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1807A>C (p.Asn603His) c.*119A>C (n.*119A>C) c.3441+16310T>G (n.3441+16310T>G) c.*551A>C (n.*551A>C) c.1726A>C (p.Asn576His) c.276+16310T>G (n.276+16310T>G) c.*220+6234A>C (n.*220+6234A>C) c.850A>C (p.Asn284His) c.877A>C (p.Asn293His) c.1732A>C (p.Asn578His) c.1546A>C (p.Asn516His) c.1465A>C (p.Asn489His) c.1171A>C (p.Asn391His) c.1552A>C (p.Asn518His) | |
2 | g.48687991G>A | CA426125699 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1806C>T (p.Thr602=) c.*118C>T (n.*118C>T) c.3441+16311G>A (n.3441+16311G>A) c.*550C>T (n.*550C>T) c.1725C>T (p.Thr575=) c.276+16311G>A (n.276+16311G>A) c.*220+6233C>T (n.*220+6233C>T) c.849C>T (p.Thr283=) c.876C>T (p.Thr292=) c.1731C>T (p.Thr577=) c.1545C>T (p.Thr515=) c.1464C>T (p.Thr488=) c.1170C>T (p.Thr390=) c.1551C>T (p.Thr517=) | dbSNP gnomAD v2 |
2 | g.48687991G>C | CA426125700 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1806C>G (p.Thr602=) c.*118C>G (n.*118C>G) c.3441+16311G>C (n.3441+16311G>C) c.*550C>G (n.*550C>G) c.1725C>G (p.Thr575=) c.276+16311G>C (n.276+16311G>C) c.*220+6233C>G (n.*220+6233C>G) c.849C>G (p.Thr283=) c.876C>G (p.Thr292=) c.1731C>G (p.Thr577=) c.1545C>G (p.Thr515=) c.1464C>G (p.Thr488=) c.1170C>G (p.Thr390=) c.1551C>G (p.Thr517=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687991G= | CA1248600937 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1806C= (p.Thr602=) c.*118C= (n.*118C=) c.3441+16311G= (n.3441+16311G=) c.*550C= (n.*550C=) c.1725C= (p.Thr575=) c.276+16311G= (n.276+16311G=) c.*220+6233C= (n.*220+6233C=) c.849C= (p.Thr283=) c.876C= (p.Thr292=) c.1731C= (p.Thr577=) c.1545C= (p.Thr515=) c.1464C= (p.Thr488=) c.1170C= (p.Thr390=) c.1551C= (p.Thr517=) | |
2 | g.48687991G>T | CA426125701 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1806C>A (p.Thr602=) c.*118C>A (n.*118C>A) c.3441+16311G>T (n.3441+16311G>T) c.*550C>A (n.*550C>A) c.1725C>A (p.Thr575=) c.276+16311G>T (n.276+16311G>T) c.*220+6233C>A (n.*220+6233C>A) c.849C>A (p.Thr283=) c.876C>A (p.Thr292=) c.1731C>A (p.Thr577=) c.1545C>A (p.Thr515=) c.1464C>A (p.Thr488=) c.1170C>A (p.Thr390=) c.1551C>A (p.Thr517=) | dbSNP |
2 | g.48687992G>A | CA1652985 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1805C>T (p.Thr602Ile) c.*117C>T (n.*117C>T) c.3441+16312G>A (n.3441+16312G>A) c.*549C>T (n.*549C>T) c.1724C>T (p.Thr575Ile) c.276+16312G>A (n.276+16312G>A) c.*220+6232C>T (n.*220+6232C>T) c.848C>T (p.Thr283Ile) c.875C>T (p.Thr292Ile) c.1730C>T (p.Thr577Ile) c.1544C>T (p.Thr515Ile) c.1463C>T (p.Thr488Ile) c.1169C>T (p.Thr390Ile) c.1550C>T (p.Thr517Ile) | ClinVar dbSNP ExAC gnomAD v4 |
2 | g.48687992G>C | CA346744435 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1805C>G (p.Thr602Ser) c.*117C>G (n.*117C>G) c.3441+16312G>C (n.3441+16312G>C) c.*549C>G (n.*549C>G) c.1724C>G (p.Thr575Ser) c.276+16312G>C (n.276+16312G>C) c.*220+6232C>G (n.*220+6232C>G) c.848C>G (p.Thr283Ser) c.875C>G (p.Thr292Ser) c.1730C>G (p.Thr577Ser) c.1544C>G (p.Thr515Ser) c.1463C>G (p.Thr488Ser) c.1169C>G (p.Thr390Ser) c.1550C>G (p.Thr517Ser) | |
2 | g.48687992G= | CA1248600938 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1805C= (p.Thr602=) c.*117C= (n.*117C=) c.3441+16312G= (n.3441+16312G=) c.*549C= (n.*549C=) c.1724C= (p.Thr575=) c.276+16312G= (n.276+16312G=) c.*220+6232C= (n.*220+6232C=) c.848C= (p.Thr283=) c.875C= (p.Thr292=) c.1730C= (p.Thr577=) c.1544C= (p.Thr515=) c.1463C= (p.Thr488=) c.1169C= (p.Thr390=) c.1550C= (p.Thr517=) | |
2 | g.48687992G>T | CA346744437 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1805C>A (p.Thr602Asn) c.*117C>A (n.*117C>A) c.3441+16312G>T (n.3441+16312G>T) c.*549C>A (n.*549C>A) c.1724C>A (p.Thr575Asn) c.276+16312G>T (n.276+16312G>T) c.*220+6232C>A (n.*220+6232C>A) c.848C>A (p.Thr283Asn) c.875C>A (p.Thr292Asn) c.1730C>A (p.Thr577Asn) c.1544C>A (p.Thr515Asn) c.1463C>A (p.Thr488Asn) c.1169C>A (p.Thr390Asn) c.1550C>A (p.Thr517Asn) | gnomAD v4 |
2 | g.48687993T>A | CA346744441 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1804A>T (p.Thr602Ser) c.*116A>T (n.*116A>T) c.3441+16313T>A (n.3441+16313T>A) c.*548A>T (n.*548A>T) c.1723A>T (p.Thr575Ser) c.276+16313T>A (n.276+16313T>A) c.*220+6231A>T (n.*220+6231A>T) c.847A>T (p.Thr283Ser) c.874A>T (p.Thr292Ser) c.1729A>T (p.Thr577Ser) c.1543A>T (p.Thr515Ser) c.1462A>T (p.Thr488Ser) c.1168A>T (p.Thr390Ser) c.1549A>T (p.Thr517Ser) | |
2 | g.48687993T>C | CA346744443 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1804A>G (p.Thr602Ala) c.*116A>G (n.*116A>G) c.3441+16313T>C (n.3441+16313T>C) c.*548A>G (n.*548A>G) c.1723A>G (p.Thr575Ala) c.276+16313T>C (n.276+16313T>C) c.*220+6231A>G (n.*220+6231A>G) c.847A>G (p.Thr283Ala) c.874A>G (p.Thr292Ala) c.1729A>G (p.Thr577Ala) c.1543A>G (p.Thr515Ala) c.1462A>G (p.Thr488Ala) c.1168A>G (p.Thr390Ala) c.1549A>G (p.Thr517Ala) | gnomAD v4 |
2 | g.48687993T>G | CA346744445 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1804A>C (p.Thr602Pro) c.*116A>C (n.*116A>C) c.3441+16313T>G (n.3441+16313T>G) c.*548A>C (n.*548A>C) c.1723A>C (p.Thr575Pro) c.276+16313T>G (n.276+16313T>G) c.*220+6231A>C (n.*220+6231A>C) c.847A>C (p.Thr283Pro) c.874A>C (p.Thr292Pro) c.1729A>C (p.Thr577Pro) c.1543A>C (p.Thr515Pro) c.1462A>C (p.Thr488Pro) c.1168A>C (p.Thr390Pro) c.1549A>C (p.Thr517Pro) | |
2 | g.48687994T>A | CA426125708 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1803A>T (p.Val601=) c.*115A>T (n.*115A>T) c.3441+16314T>A (n.3441+16314T>A) c.*547A>T (n.*547A>T) c.1722A>T (p.Val574=) c.276+16314T>A (n.276+16314T>A) c.*220+6230A>T (n.*220+6230A>T) c.846A>T (p.Val282=) c.873A>T (p.Val291=) c.1728A>T (p.Val576=) c.1542A>T (p.Val514=) c.1461A>T (p.Val487=) c.1167A>T (p.Val389=) c.1548A>T (p.Val516=) | |
2 | g.48687994T>C | CA426125709 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1803A>G (p.Val601=) c.*115A>G (n.*115A>G) c.3441+16314T>C (n.3441+16314T>C) c.*547A>G (n.*547A>G) c.1722A>G (p.Val574=) c.276+16314T>C (n.276+16314T>C) c.*220+6230A>G (n.*220+6230A>G) c.846A>G (p.Val282=) c.873A>G (p.Val291=) c.1728A>G (p.Val576=) c.1542A>G (p.Val514=) c.1461A>G (p.Val487=) c.1167A>G (p.Val389=) c.1548A>G (p.Val516=) | |
2 | g.48687994T>G | CA426125712 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1803A>C (p.Val601=) c.*115A>C (n.*115A>C) c.3441+16314T>G (n.3441+16314T>G) c.*547A>C (n.*547A>C) c.1722A>C (p.Val574=) c.276+16314T>G (n.276+16314T>G) c.*220+6230A>C (n.*220+6230A>C) c.846A>C (p.Val282=) c.873A>C (p.Val291=) c.1728A>C (p.Val576=) c.1542A>C (p.Val514=) c.1461A>C (p.Val487=) c.1167A>C (p.Val389=) c.1548A>C (p.Val516=) | |
2 | g.48687995A>C | CA346744446 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1802T>G (p.Val601Gly) c.*114T>G (n.*114T>G) c.3441+16315A>C (n.3441+16315A>C) c.*546T>G (n.*546T>G) c.1721T>G (p.Val574Gly) c.276+16315A>C (n.276+16315A>C) c.*220+6229T>G (n.*220+6229T>G) c.845T>G (p.Val282Gly) c.872T>G (p.Val291Gly) c.1727T>G (p.Val576Gly) c.1541T>G (p.Val514Gly) c.1460T>G (p.Val487Gly) c.1166T>G (p.Val389Gly) c.1547T>G (p.Val516Gly) | |
2 | g.48687995A>G | CA346744447 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1802T>C (p.Val601Ala) c.*114T>C (n.*114T>C) c.3441+16315A>G (n.3441+16315A>G) c.*546T>C (n.*546T>C) c.1721T>C (p.Val574Ala) c.276+16315A>G (n.276+16315A>G) c.*220+6229T>C (n.*220+6229T>C) c.845T>C (p.Val282Ala) c.872T>C (p.Val291Ala) c.1727T>C (p.Val576Ala) c.1541T>C (p.Val514Ala) c.1460T>C (p.Val487Ala) c.1166T>C (p.Val389Ala) c.1547T>C (p.Val516Ala) | |
2 | g.48687995A>T | CA346744448 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1802T>A (p.Val601Glu) c.*114T>A (n.*114T>A) c.3441+16315A>T (n.3441+16315A>T) c.*546T>A (n.*546T>A) c.1721T>A (p.Val574Glu) c.276+16315A>T (n.276+16315A>T) c.*220+6229T>A (n.*220+6229T>A) c.845T>A (p.Val282Glu) c.872T>A (p.Val291Glu) c.1727T>A (p.Val576Glu) c.1541T>A (p.Val514Glu) c.1460T>A (p.Val487Glu) c.1166T>A (p.Val389Glu) c.1547T>A (p.Val516Glu) | COSMIC |
2 | g.48687996C>A | CA346744449 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1801G>T (p.Val601Leu) c.*113G>T (n.*113G>T) c.3441+16316C>A (n.3441+16316C>A) c.*545G>T (n.*545G>T) c.1720G>T (p.Val574Leu) c.276+16316C>A (n.276+16316C>A) c.*220+6228G>T (n.*220+6228G>T) c.844G>T (p.Val282Leu) c.871G>T (p.Val291Leu) c.1726G>T (p.Val576Leu) c.1540G>T (p.Val514Leu) c.1459G>T (p.Val487Leu) c.1165G>T (p.Val389Leu) c.1546G>T (p.Val516Leu) | |
2 | g.48687996C>G | CA346744450 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1801G>C (p.Val601Leu) c.*113G>C (n.*113G>C) c.3441+16316C>G (n.3441+16316C>G) c.*545G>C (n.*545G>C) c.1720G>C (p.Val574Leu) c.276+16316C>G (n.276+16316C>G) c.*220+6228G>C (n.*220+6228G>C) c.844G>C (p.Val282Leu) c.871G>C (p.Val291Leu) c.1726G>C (p.Val576Leu) c.1540G>C (p.Val514Leu) c.1459G>C (p.Val487Leu) c.1165G>C (p.Val389Leu) c.1546G>C (p.Val516Leu) | |
2 | g.48687996C>T | CA346744452 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1801G>A (p.Val601Ile) c.*113G>A (n.*113G>A) c.3441+16316C>T (n.3441+16316C>T) c.*545G>A (n.*545G>A) c.1720G>A (p.Val574Ile) c.276+16316C>T (n.276+16316C>T) c.*220+6228G>A (n.*220+6228G>A) c.844G>A (p.Val282Ile) c.871G>A (p.Val291Ile) c.1726G>A (p.Val576Ile) c.1540G>A (p.Val514Ile) c.1459G>A (p.Val487Ile) c.1165G>A (p.Val389Ile) c.1546G>A (p.Val516Ile) | |
2 | g.48687997T>A | CA426125715 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1800A>T (p.Thr600=) c.*112A>T (n.*112A>T) c.3441+16317T>A (n.3441+16317T>A) c.*544A>T (n.*544A>T) c.1719A>T (p.Thr573=) c.276+16317T>A (n.276+16317T>A) c.*220+6227A>T (n.*220+6227A>T) c.843A>T (p.Thr281=) c.870A>T (p.Thr290=) c.1725A>T (p.Thr575=) c.1539A>T (p.Thr513=) c.1458A>T (p.Thr486=) c.1164A>T (p.Thr388=) c.1545A>T (p.Thr515=) | |
2 | g.48687997T>C | CA426125716 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1800A>G (p.Thr600=) c.*112A>G (n.*112A>G) c.3441+16317T>C (n.3441+16317T>C) c.*544A>G (n.*544A>G) c.1719A>G (p.Thr573=) c.276+16317T>C (n.276+16317T>C) c.*220+6227A>G (n.*220+6227A>G) c.843A>G (p.Thr281=) c.870A>G (p.Thr290=) c.1725A>G (p.Thr575=) c.1539A>G (p.Thr513=) c.1458A>G (p.Thr486=) c.1164A>G (p.Thr388=) c.1545A>G (p.Thr515=) | gnomAD v4 |
2 | g.48687997T>G | CA426125719 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1800A>C (p.Thr600=) c.*112A>C (n.*112A>C) c.3441+16317T>G (n.3441+16317T>G) c.*544A>C (n.*544A>C) c.1719A>C (p.Thr573=) c.276+16317T>G (n.276+16317T>G) c.*220+6227A>C (n.*220+6227A>C) c.843A>C (p.Thr281=) c.870A>C (p.Thr290=) c.1725A>C (p.Thr575=) c.1539A>C (p.Thr513=) c.1458A>C (p.Thr486=) c.1164A>C (p.Thr388=) c.1545A>C (p.Thr515=) | |
2 | g.48687998G>A | CA1652986 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1799C>T (p.Thr600Ile) c.*111C>T (n.*111C>T) c.3441+16318G>A (n.3441+16318G>A) c.*543C>T (n.*543C>T) c.1718C>T (p.Thr573Ile) c.276+16318G>A (n.276+16318G>A) c.*220+6226C>T (n.*220+6226C>T) c.842C>T (p.Thr281Ile) c.869C>T (p.Thr290Ile) c.1724C>T (p.Thr575Ile) c.1538C>T (p.Thr513Ile) c.1457C>T (p.Thr486Ile) c.1163C>T (p.Thr388Ile) c.1544C>T (p.Thr515Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687998G>C | CA346744455 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1799C>G (p.Thr600Arg) c.*111C>G (n.*111C>G) c.3441+16318G>C (n.3441+16318G>C) c.*543C>G (n.*543C>G) c.1718C>G (p.Thr573Arg) c.276+16318G>C (n.276+16318G>C) c.*220+6226C>G (n.*220+6226C>G) c.842C>G (p.Thr281Arg) c.869C>G (p.Thr290Arg) c.1724C>G (p.Thr575Arg) c.1538C>G (p.Thr513Arg) c.1457C>G (p.Thr486Arg) c.1163C>G (p.Thr388Arg) c.1544C>G (p.Thr515Arg) | |
2 | g.48687998G= | CA1248600939 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1799C= (p.Thr600=) c.*111C= (n.*111C=) c.3441+16318G= (n.3441+16318G=) c.*543C= (n.*543C=) c.1718C= (p.Thr573=) c.276+16318G= (n.276+16318G=) c.*220+6226C= (n.*220+6226C=) c.842C= (p.Thr281=) c.869C= (p.Thr290=) c.1724C= (p.Thr575=) c.1538C= (p.Thr513=) c.1457C= (p.Thr486=) c.1163C= (p.Thr388=) c.1544C= (p.Thr515=) | |
2 | g.48687998G>T | CA346744454 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1799C>A (p.Thr600Lys) c.*111C>A (n.*111C>A) c.3441+16318G>T (n.3441+16318G>T) c.*543C>A (n.*543C>A) c.1718C>A (p.Thr573Lys) c.276+16318G>T (n.276+16318G>T) c.*220+6226C>A (n.*220+6226C>A) c.842C>A (p.Thr281Lys) c.869C>A (p.Thr290Lys) c.1724C>A (p.Thr575Lys) c.1538C>A (p.Thr513Lys) c.1457C>A (p.Thr486Lys) c.1163C>A (p.Thr388Lys) c.1544C>A (p.Thr515Lys) | |
2 | g.48687999T>A | CA346744456 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1798A>T (p.Thr600Ser) c.*110A>T (n.*110A>T) c.3441+16319T>A (n.3441+16319T>A) c.*542A>T (n.*542A>T) c.1717A>T (p.Thr573Ser) c.276+16319T>A (n.276+16319T>A) c.*220+6225A>T (n.*220+6225A>T) c.841A>T (p.Thr281Ser) c.868A>T (p.Thr290Ser) c.1723A>T (p.Thr575Ser) c.1537A>T (p.Thr513Ser) c.1456A>T (p.Thr486Ser) c.1162A>T (p.Thr388Ser) c.1543A>T (p.Thr515Ser) | |
2 | g.48687999T>C | CA346744459 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1798A>G (p.Thr600Ala) c.*110A>G (n.*110A>G) c.3441+16319T>C (n.3441+16319T>C) c.*542A>G (n.*542A>G) c.1717A>G (p.Thr573Ala) c.276+16319T>C (n.276+16319T>C) c.*220+6225A>G (n.*220+6225A>G) c.841A>G (p.Thr281Ala) c.868A>G (p.Thr290Ala) c.1723A>G (p.Thr575Ala) c.1537A>G (p.Thr513Ala) c.1456A>G (p.Thr486Ala) c.1162A>G (p.Thr388Ala) c.1543A>G (p.Thr515Ala) | |
2 | g.48687999T>G | CA346744457 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1798A>C (p.Thr600Pro) c.*110A>C (n.*110A>C) c.3441+16319T>G (n.3441+16319T>G) c.*542A>C (n.*542A>C) c.1717A>C (p.Thr573Pro) c.276+16319T>G (n.276+16319T>G) c.*220+6225A>C (n.*220+6225A>C) c.841A>C (p.Thr281Pro) c.868A>C (p.Thr290Pro) c.1723A>C (p.Thr575Pro) c.1537A>C (p.Thr513Pro) c.1456A>C (p.Thr486Pro) c.1162A>C (p.Thr388Pro) c.1543A>C (p.Thr515Pro) | |
2 | g.48688000G>A | CA426125728 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1797C>T (p.Ile599=) c.*109C>T (n.*109C>T) c.3441+16320G>A (n.3441+16320G>A) c.*541C>T (n.*541C>T) c.1716C>T (p.Ile572=) c.276+16320G>A (n.276+16320G>A) c.*220+6224C>T (n.*220+6224C>T) c.840C>T (p.Ile280=) c.867C>T (p.Ile289=) c.1722C>T (p.Ile574=) c.1536C>T (p.Ile512=) c.1455C>T (p.Ile485=) c.1161C>T (p.Ile387=) c.1542C>T (p.Ile514=) | gnomAD v4 |
2 | g.48688000G>C | CA346744460 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1797C>G (p.Ile599Met) c.*109C>G (n.*109C>G) c.3441+16320G>C (n.3441+16320G>C) c.*541C>G (n.*541C>G) c.1716C>G (p.Ile572Met) c.276+16320G>C (n.276+16320G>C) c.*220+6224C>G (n.*220+6224C>G) c.840C>G (p.Ile280Met) c.867C>G (p.Ile289Met) c.1722C>G (p.Ile574Met) c.1536C>G (p.Ile512Met) c.1455C>G (p.Ile485Met) c.1161C>G (p.Ile387Met) c.1542C>G (p.Ile514Met) | gnomAD v4 |
2 | g.48688000G= | CA1248600940 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1797C= (p.Ile599=) c.*109C= (n.*109C=) c.3441+16320G= (n.3441+16320G=) c.*541C= (n.*541C=) c.1716C= (p.Ile572=) c.276+16320G= (n.276+16320G=) c.*220+6224C= (n.*220+6224C=) c.840C= (p.Ile280=) c.867C= (p.Ile289=) c.1722C= (p.Ile574=) c.1536C= (p.Ile512=) c.1455C= (p.Ile485=) c.1161C= (p.Ile387=) c.1542C= (p.Ile514=) | |
2 | g.48688000G>T | CA1652987 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1797C>A (p.Ile599=) c.*109C>A (n.*109C>A) c.3441+16320G>T (n.3441+16320G>T) c.*541C>A (n.*541C>A) c.1716C>A (p.Ile572=) c.276+16320G>T (n.276+16320G>T) c.*220+6224C>A (n.*220+6224C>A) c.840C>A (p.Ile280=) c.867C>A (p.Ile289=) c.1722C>A (p.Ile574=) c.1536C>A (p.Ile512=) c.1455C>A (p.Ile485=) c.1161C>A (p.Ile387=) c.1542C>A (p.Ile514=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688001A= | CA1248600941 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1796T= (p.Ile599=) c.*108T= (n.*108T=) c.3441+16321A= (n.3441+16321A=) c.*540T= (n.*540T=) c.1715T= (p.Ile572=) c.276+16321A= (n.276+16321A=) c.*220+6223T= (n.*220+6223T=) c.839T= (p.Ile280=) c.866T= (p.Ile289=) c.1721T= (p.Ile574=) c.1535T= (p.Ile512=) c.1454T= (p.Ile485=) c.1160T= (p.Ile387=) c.1541T= (p.Ile514=) | |
2 | g.48688001A>C | CA346744465 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1796T>G (p.Ile599Ser) c.*108T>G (n.*108T>G) c.3441+16321A>C (n.3441+16321A>C) c.*540T>G (n.*540T>G) c.1715T>G (p.Ile572Ser) c.276+16321A>C (n.276+16321A>C) c.*220+6223T>G (n.*220+6223T>G) c.839T>G (p.Ile280Ser) c.866T>G (p.Ile289Ser) c.1721T>G (p.Ile574Ser) c.1535T>G (p.Ile512Ser) c.1454T>G (p.Ile485Ser) c.1160T>G (p.Ile387Ser) c.1541T>G (p.Ile514Ser) | |
2 | g.48688001A>G | CA346744467 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1796T>C (p.Ile599Thr) c.*108T>C (n.*108T>C) c.3441+16321A>G (n.3441+16321A>G) c.*540T>C (n.*540T>C) c.1715T>C (p.Ile572Thr) c.276+16321A>G (n.276+16321A>G) c.*220+6223T>C (n.*220+6223T>C) c.839T>C (p.Ile280Thr) c.866T>C (p.Ile289Thr) c.1721T>C (p.Ile574Thr) c.1535T>C (p.Ile512Thr) c.1454T>C (p.Ile485Thr) c.1160T>C (p.Ile387Thr) c.1541T>C (p.Ile514Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688001A>T | CA1652988 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1796T>A (p.Ile599Asn) c.*108T>A (n.*108T>A) c.3441+16321A>T (n.3441+16321A>T) c.*540T>A (n.*540T>A) c.1715T>A (p.Ile572Asn) c.276+16321A>T (n.276+16321A>T) c.*220+6223T>A (n.*220+6223T>A) c.839T>A (p.Ile280Asn) c.866T>A (p.Ile289Asn) c.1721T>A (p.Ile574Asn) c.1535T>A (p.Ile512Asn) c.1454T>A (p.Ile485Asn) c.1160T>A (p.Ile387Asn) c.1541T>A (p.Ile514Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688002T>A | CA346744471 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1795A>T (p.Ile599Phe) c.*107A>T (n.*107A>T) c.3441+16322T>A (n.3441+16322T>A) c.*539A>T (n.*539A>T) c.1714A>T (p.Ile572Phe) c.276+16322T>A (n.276+16322T>A) c.*220+6222A>T (n.*220+6222A>T) c.838A>T (p.Ile280Phe) c.865A>T (p.Ile289Phe) c.1720A>T (p.Ile574Phe) c.1534A>T (p.Ile512Phe) c.1453A>T (p.Ile485Phe) c.1159A>T (p.Ile387Phe) c.1540A>T (p.Ile514Phe) | |
2 | g.48688002T>C | CA346744474 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1795A>G (p.Ile599Val) c.*107A>G (n.*107A>G) c.3441+16322T>C (n.3441+16322T>C) c.*539A>G (n.*539A>G) c.1714A>G (p.Ile572Val) c.276+16322T>C (n.276+16322T>C) c.*220+6222A>G (n.*220+6222A>G) c.838A>G (p.Ile280Val) c.865A>G (p.Ile289Val) c.1720A>G (p.Ile574Val) c.1534A>G (p.Ile512Val) c.1453A>G (p.Ile485Val) c.1159A>G (p.Ile387Val) c.1540A>G (p.Ile514Val) | gnomAD v4 |
2 | g.48688002T>G | CA346744481 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1795A>C (p.Ile599Leu) c.*107A>C (n.*107A>C) c.3441+16322T>G (n.3441+16322T>G) c.*539A>C (n.*539A>C) c.1714A>C (p.Ile572Leu) c.276+16322T>G (n.276+16322T>G) c.*220+6222A>C (n.*220+6222A>C) c.838A>C (p.Ile280Leu) c.865A>C (p.Ile289Leu) c.1720A>C (p.Ile574Leu) c.1534A>C (p.Ile512Leu) c.1453A>C (p.Ile485Leu) c.1159A>C (p.Ile387Leu) c.1540A>C (p.Ile514Leu) | |
2 | g.48688003A>C | CA426124883 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1794T>G (p.Leu598=) c.*106T>G (n.*106T>G) c.3441+16323A>C (n.3441+16323A>C) c.*538T>G (n.*538T>G) c.1713T>G (p.Leu571=) c.276+16323A>C (n.276+16323A>C) c.*220+6221T>G (n.*220+6221T>G) c.837T>G (p.Leu279=) c.864T>G (p.Leu288=) c.1719T>G (p.Leu573=) c.1533T>G (p.Leu511=) c.1452T>G (p.Leu484=) c.1158T>G (p.Leu386=) c.1539T>G (p.Leu513=) | |
2 | g.48688003A>G | CA426124885 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1794T>C (p.Leu598=) c.*106T>C (n.*106T>C) c.3441+16323A>G (n.3441+16323A>G) c.*538T>C (n.*538T>C) c.1713T>C (p.Leu571=) c.276+16323A>G (n.276+16323A>G) c.*220+6221T>C (n.*220+6221T>C) c.837T>C (p.Leu279=) c.864T>C (p.Leu288=) c.1719T>C (p.Leu573=) c.1533T>C (p.Leu511=) c.1452T>C (p.Leu484=) c.1158T>C (p.Leu386=) c.1539T>C (p.Leu513=) | |
2 | g.48688003A>T | CA426124884 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1794T>A (p.Leu598=) c.*106T>A (n.*106T>A) c.3441+16323A>T (n.3441+16323A>T) c.*538T>A (n.*538T>A) c.1713T>A (p.Leu571=) c.276+16323A>T (n.276+16323A>T) c.*220+6221T>A (n.*220+6221T>A) c.837T>A (p.Leu279=) c.864T>A (p.Leu288=) c.1719T>A (p.Leu573=) c.1533T>A (p.Leu511=) c.1452T>A (p.Leu484=) c.1158T>A (p.Leu386=) c.1539T>A (p.Leu513=) | |
2 | g.48688004A>C | CA346744487 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1793T>G (p.Leu598Arg) c.*105T>G (n.*105T>G) c.3441+16324A>C (n.3441+16324A>C) c.*537T>G (n.*537T>G) c.1712T>G (p.Leu571Arg) c.276+16324A>C (n.276+16324A>C) c.*220+6220T>G (n.*220+6220T>G) c.836T>G (p.Leu279Arg) c.863T>G (p.Leu288Arg) c.1718T>G (p.Leu573Arg) c.1532T>G (p.Leu511Arg) c.1451T>G (p.Leu484Arg) c.1157T>G (p.Leu386Arg) c.1538T>G (p.Leu513Arg) | |
2 | g.48688004A>G | CA346744490 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1793T>C (p.Leu598Pro) c.*105T>C (n.*105T>C) c.3441+16324A>G (n.3441+16324A>G) c.*537T>C (n.*537T>C) c.1712T>C (p.Leu571Pro) c.276+16324A>G (n.276+16324A>G) c.*220+6220T>C (n.*220+6220T>C) c.836T>C (p.Leu279Pro) c.863T>C (p.Leu288Pro) c.1718T>C (p.Leu573Pro) c.1532T>C (p.Leu511Pro) c.1451T>C (p.Leu484Pro) c.1157T>C (p.Leu386Pro) c.1538T>C (p.Leu513Pro) | |
2 | g.48688004A>T | CA346744492 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1793T>A (p.Leu598His) c.*105T>A (n.*105T>A) c.3441+16324A>T (n.3441+16324A>T) c.*537T>A (n.*537T>A) c.1712T>A (p.Leu571His) c.276+16324A>T (n.276+16324A>T) c.*220+6220T>A (n.*220+6220T>A) c.836T>A (p.Leu279His) c.863T>A (p.Leu288His) c.1718T>A (p.Leu573His) c.1532T>A (p.Leu511His) c.1451T>A (p.Leu484His) c.1157T>A (p.Leu386His) c.1538T>A (p.Leu513His) | |
2 | g.48688005G>A | CA346744499 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1792C>T (p.Leu598Phe) c.*104C>T (n.*104C>T) c.3441+16325G>A (n.3441+16325G>A) c.*536C>T (n.*536C>T) c.1711C>T (p.Leu571Phe) c.276+16325G>A (n.276+16325G>A) c.*220+6219C>T (n.*220+6219C>T) c.835C>T (p.Leu279Phe) c.862C>T (p.Leu288Phe) c.1717C>T (p.Leu573Phe) c.1531C>T (p.Leu511Phe) c.1450C>T (p.Leu484Phe) c.1156C>T (p.Leu386Phe) c.1537C>T (p.Leu513Phe) | |
2 | g.48688005G>C | CA346744494 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1792C>G (p.Leu598Val) c.*104C>G (n.*104C>G) c.3441+16325G>C (n.3441+16325G>C) c.*536C>G (n.*536C>G) c.1711C>G (p.Leu571Val) c.276+16325G>C (n.276+16325G>C) c.*220+6219C>G (n.*220+6219C>G) c.835C>G (p.Leu279Val) c.862C>G (p.Leu288Val) c.1717C>G (p.Leu573Val) c.1531C>G (p.Leu511Val) c.1450C>G (p.Leu484Val) c.1156C>G (p.Leu386Val) c.1537C>G (p.Leu513Val) | |
2 | g.48688005G>T | CA346744495 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1792C>A (p.Leu598Ile) c.*104C>A (n.*104C>A) c.3441+16325G>T (n.3441+16325G>T) c.*536C>A (n.*536C>A) c.1711C>A (p.Leu571Ile) c.276+16325G>T (n.276+16325G>T) c.*220+6219C>A (n.*220+6219C>A) c.835C>A (p.Leu279Ile) c.862C>A (p.Leu288Ile) c.1717C>A (p.Leu573Ile) c.1531C>A (p.Leu511Ile) c.1450C>A (p.Leu484Ile) c.1156C>A (p.Leu386Ile) c.1537C>A (p.Leu513Ile) | |
2 | g.48688006A>C | CA426124887 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1791T>G (p.Pro597=) c.*103T>G (n.*103T>G) c.3441+16326A>C (n.3441+16326A>C) c.*535T>G (n.*535T>G) c.1710T>G (p.Pro570=) c.276+16326A>C (n.276+16326A>C) c.*220+6218T>G (n.*220+6218T>G) c.834T>G (p.Pro278=) c.861T>G (p.Pro287=) c.1716T>G (p.Pro572=) c.1530T>G (p.Pro510=) c.1449T>G (p.Pro483=) c.1155T>G (p.Pro385=) c.1536T>G (p.Pro512=) | |
2 | g.48688006A>G | CA426124888 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1791T>C (p.Pro597=) c.*103T>C (n.*103T>C) c.3441+16326A>G (n.3441+16326A>G) c.*535T>C (n.*535T>C) c.1710T>C (p.Pro570=) c.276+16326A>G (n.276+16326A>G) c.*220+6218T>C (n.*220+6218T>C) c.834T>C (p.Pro278=) c.861T>C (p.Pro287=) c.1716T>C (p.Pro572=) c.1530T>C (p.Pro510=) c.1449T>C (p.Pro483=) c.1155T>C (p.Pro385=) c.1536T>C (p.Pro512=) | |
2 | g.48688006A>T | CA426124889 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1791T>A (p.Pro597=) c.*103T>A (n.*103T>A) c.3441+16326A>T (n.3441+16326A>T) c.*535T>A (n.*535T>A) c.1710T>A (p.Pro570=) c.276+16326A>T (n.276+16326A>T) c.*220+6218T>A (n.*220+6218T>A) c.834T>A (p.Pro278=) c.861T>A (p.Pro287=) c.1716T>A (p.Pro572=) c.1530T>A (p.Pro510=) c.1449T>A (p.Pro483=) c.1155T>A (p.Pro385=) c.1536T>A (p.Pro512=) | |
2 | g.48688007G>A | CA346744501 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1790C>T (p.Pro597Leu) c.*102C>T (n.*102C>T) c.3441+16327G>A (n.3441+16327G>A) c.*534C>T (n.*534C>T) c.1709C>T (p.Pro570Leu) c.276+16327G>A (n.276+16327G>A) c.*220+6217C>T (n.*220+6217C>T) c.833C>T (p.Pro278Leu) c.860C>T (p.Pro287Leu) c.1715C>T (p.Pro572Leu) c.1529C>T (p.Pro510Leu) c.1448C>T (p.Pro483Leu) c.1154C>T (p.Pro385Leu) c.1535C>T (p.Pro512Leu) | dbSNP |
2 | g.48688007G>C | CA346744504 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1790C>G (p.Pro597Arg) c.*102C>G (n.*102C>G) c.3441+16327G>C (n.3441+16327G>C) c.*534C>G (n.*534C>G) c.1709C>G (p.Pro570Arg) c.276+16327G>C (n.276+16327G>C) c.*220+6217C>G (n.*220+6217C>G) c.833C>G (p.Pro278Arg) c.860C>G (p.Pro287Arg) c.1715C>G (p.Pro572Arg) c.1529C>G (p.Pro510Arg) c.1448C>G (p.Pro483Arg) c.1154C>G (p.Pro385Arg) c.1535C>G (p.Pro512Arg) | |
2 | g.48688007G= | CA1248600942 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1790C= (p.Pro597=) c.*102C= (n.*102C=) c.3441+16327G= (n.3441+16327G=) c.*534C= (n.*534C=) c.1709C= (p.Pro570=) c.276+16327G= (n.276+16327G=) c.*220+6217C= (n.*220+6217C=) c.833C= (p.Pro278=) c.860C= (p.Pro287=) c.1715C= (p.Pro572=) c.1529C= (p.Pro510=) c.1448C= (p.Pro483=) c.1154C= (p.Pro385=) c.1535C= (p.Pro512=) | |
2 | g.48688007G>T | CA346744506 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1790C>A (p.Pro597His) c.*102C>A (n.*102C>A) c.3441+16327G>T (n.3441+16327G>T) c.*534C>A (n.*534C>A) c.1709C>A (p.Pro570His) c.276+16327G>T (n.276+16327G>T) c.*220+6217C>A (n.*220+6217C>A) c.833C>A (p.Pro278His) c.860C>A (p.Pro287His) c.1715C>A (p.Pro572His) c.1529C>A (p.Pro510His) c.1448C>A (p.Pro483His) c.1154C>A (p.Pro385His) c.1535C>A (p.Pro512His) | COSMIC |
2 | g.48688008G>A | CA346744508 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1789C>T (p.Pro597Ser) c.*101C>T (n.*101C>T) c.3441+16328G>A (n.3441+16328G>A) c.*533C>T (n.*533C>T) c.1708C>T (p.Pro570Ser) c.276+16328G>A (n.276+16328G>A) c.*220+6216C>T (n.*220+6216C>T) c.832C>T (p.Pro278Ser) c.859C>T (p.Pro287Ser) c.1714C>T (p.Pro572Ser) c.1528C>T (p.Pro510Ser) c.1447C>T (p.Pro483Ser) c.1153C>T (p.Pro385Ser) c.1534C>T (p.Pro512Ser) | dbSNP gnomAD v4 |
2 | g.48688008G>C | CA346744512 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1789C>G (p.Pro597Ala) c.*101C>G (n.*101C>G) c.3441+16328G>C (n.3441+16328G>C) c.*533C>G (n.*533C>G) c.1708C>G (p.Pro570Ala) c.276+16328G>C (n.276+16328G>C) c.*220+6216C>G (n.*220+6216C>G) c.832C>G (p.Pro278Ala) c.859C>G (p.Pro287Ala) c.1714C>G (p.Pro572Ala) c.1528C>G (p.Pro510Ala) c.1447C>G (p.Pro483Ala) c.1153C>G (p.Pro385Ala) c.1534C>G (p.Pro512Ala) | |
2 | g.48688008G= | CA1248600943 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1789C= (p.Pro597=) c.*101C= (n.*101C=) c.3441+16328G= (n.3441+16328G=) c.*533C= (n.*533C=) c.1708C= (p.Pro570=) c.276+16328G= (n.276+16328G=) c.*220+6216C= (n.*220+6216C=) c.832C= (p.Pro278=) c.859C= (p.Pro287=) c.1714C= (p.Pro572=) c.1528C= (p.Pro510=) c.1447C= (p.Pro483=) c.1153C= (p.Pro385=) c.1534C= (p.Pro512=) | |
2 | g.48688008G>T | CA346744514 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1789C>A (p.Pro597Thr) c.*101C>A (n.*101C>A) c.3441+16328G>T (n.3441+16328G>T) c.*533C>A (n.*533C>A) c.1708C>A (p.Pro570Thr) c.276+16328G>T (n.276+16328G>T) c.*220+6216C>A (n.*220+6216C>A) c.832C>A (p.Pro278Thr) c.859C>A (p.Pro287Thr) c.1714C>A (p.Pro572Thr) c.1528C>A (p.Pro510Thr) c.1447C>A (p.Pro483Thr) c.1153C>A (p.Pro385Thr) c.1534C>A (p.Pro512Thr) | |
2 | g.48688009T>A | CA1652989 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1788A>T (p.Val596=) c.*100A>T (n.*100A>T) c.3441+16329T>A (n.3441+16329T>A) c.*532A>T (n.*532A>T) c.1707A>T (p.Val569=) c.276+16329T>A (n.276+16329T>A) c.*220+6215A>T (n.*220+6215A>T) c.831A>T (p.Val277=) c.858A>T (p.Val286=) c.1713A>T (p.Val571=) c.1527A>T (p.Val509=) c.1446A>T (p.Val482=) c.1152A>T (p.Val384=) c.1533A>T (p.Val511=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688009T>C | CA426124890 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1788A>G (p.Val596=) c.*100A>G (n.*100A>G) c.3441+16329T>C (n.3441+16329T>C) c.*532A>G (n.*532A>G) c.1707A>G (p.Val569=) c.276+16329T>C (n.276+16329T>C) c.*220+6215A>G (n.*220+6215A>G) c.831A>G (p.Val277=) c.858A>G (p.Val286=) c.1713A>G (p.Val571=) c.1527A>G (p.Val509=) c.1446A>G (p.Val482=) c.1152A>G (p.Val384=) c.1533A>G (p.Val511=) | |
2 | g.48688009T>G | CA426124891 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1788A>C (p.Val596=) c.*100A>C (n.*100A>C) c.3441+16329T>G (n.3441+16329T>G) c.*532A>C (n.*532A>C) c.1707A>C (p.Val569=) c.276+16329T>G (n.276+16329T>G) c.*220+6215A>C (n.*220+6215A>C) c.831A>C (p.Val277=) c.858A>C (p.Val286=) c.1713A>C (p.Val571=) c.1527A>C (p.Val509=) c.1446A>C (p.Val482=) c.1152A>C (p.Val384=) c.1533A>C (p.Val511=) | |
2 | g.48688009T= | CA1248600944 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1788A= (p.Val596=) c.*100A= (n.*100A=) c.3441+16329T= (n.3441+16329T=) c.*532A= (n.*532A=) c.1707A= (p.Val569=) c.276+16329T= (n.276+16329T=) c.*220+6215A= (n.*220+6215A=) c.831A= (p.Val277=) c.858A= (p.Val286=) c.1713A= (p.Val571=) c.1527A= (p.Val509=) c.1446A= (p.Val482=) c.1152A= (p.Val384=) c.1533A= (p.Val511=) | |
2 | g.48688010A= | CA1248600945 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1787T= (p.Val596=) c.*99T= (n.*99T=) c.3441+16330A= (n.3441+16330A=) c.*531T= (n.*531T=) c.1706T= (p.Val569=) c.276+16330A= (n.276+16330A=) c.*220+6214T= (n.*220+6214T=) c.830T= (p.Val277=) c.857T= (p.Val286=) c.1712T= (p.Val571=) c.1526T= (p.Val509=) c.1445T= (p.Val482=) c.1151T= (p.Val384=) c.1532T= (p.Val511=) | |
2 | g.48688010A>C | CA1652990 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1787T>G (p.Val596Gly) c.*99T>G (n.*99T>G) c.3441+16330A>C (n.3441+16330A>C) c.*531T>G (n.*531T>G) c.1706T>G (p.Val569Gly) c.276+16330A>C (n.276+16330A>C) c.*220+6214T>G (n.*220+6214T>G) c.830T>G (p.Val277Gly) c.857T>G (p.Val286Gly) c.1712T>G (p.Val571Gly) c.1526T>G (p.Val509Gly) c.1445T>G (p.Val482Gly) c.1151T>G (p.Val384Gly) c.1532T>G (p.Val511Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688010A>G | CA346744518 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1787T>C (p.Val596Ala) c.*99T>C (n.*99T>C) c.3441+16330A>G (n.3441+16330A>G) c.*531T>C (n.*531T>C) c.1706T>C (p.Val569Ala) c.276+16330A>G (n.276+16330A>G) c.*220+6214T>C (n.*220+6214T>C) c.830T>C (p.Val277Ala) c.857T>C (p.Val286Ala) c.1712T>C (p.Val571Ala) c.1526T>C (p.Val509Ala) c.1445T>C (p.Val482Ala) c.1151T>C (p.Val384Ala) c.1532T>C (p.Val511Ala) | gnomAD v4 |
2 | g.48688010A>T | CA346744520 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1787T>A (p.Val596Glu) c.*99T>A (n.*99T>A) c.3441+16330A>T (n.3441+16330A>T) c.*531T>A (n.*531T>A) c.1706T>A (p.Val569Glu) c.276+16330A>T (n.276+16330A>T) c.*220+6214T>A (n.*220+6214T>A) c.830T>A (p.Val277Glu) c.857T>A (p.Val286Glu) c.1712T>A (p.Val571Glu) c.1526T>A (p.Val509Glu) c.1445T>A (p.Val482Glu) c.1151T>A (p.Val384Glu) c.1532T>A (p.Val511Glu) | |
2 | g.48688011C>A | CA46752743 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1786G>T (p.Val596Leu) c.*98G>T (n.*98G>T) c.3441+16331C>A (n.3441+16331C>A) c.*530G>T (n.*530G>T) c.1705G>T (p.Val569Leu) c.276+16331C>A (n.276+16331C>A) c.*220+6213G>T (n.*220+6213G>T) c.829G>T (p.Val277Leu) c.856G>T (p.Val286Leu) c.1711G>T (p.Val571Leu) c.1525G>T (p.Val509Leu) c.1444G>T (p.Val482Leu) c.1150G>T (p.Val384Leu) c.1531G>T (p.Val511Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688011C= | CA1248600946 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1786G= (p.Val596=) c.*98G= (n.*98G=) c.3441+16331C= (n.3441+16331C=) c.*530G= (n.*530G=) c.1705G= (p.Val569=) c.276+16331C= (n.276+16331C=) c.*220+6213G= (n.*220+6213G=) c.829G= (p.Val277=) c.856G= (p.Val286=) c.1711G= (p.Val571=) c.1525G= (p.Val509=) c.1444G= (p.Val482=) c.1150G= (p.Val384=) c.1531G= (p.Val511=) | |
2 | g.48688011C>G | CA346744524 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1786G>C (p.Val596Leu) c.*98G>C (n.*98G>C) c.3441+16331C>G (n.3441+16331C>G) c.*530G>C (n.*530G>C) c.1705G>C (p.Val569Leu) c.276+16331C>G (n.276+16331C>G) c.*220+6213G>C (n.*220+6213G>C) c.829G>C (p.Val277Leu) c.856G>C (p.Val286Leu) c.1711G>C (p.Val571Leu) c.1525G>C (p.Val509Leu) c.1444G>C (p.Val482Leu) c.1150G>C (p.Val384Leu) c.1531G>C (p.Val511Leu) | |
2 | g.48688011C>T | CA346744523 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1786G>A (p.Val596Ile) c.*98G>A (n.*98G>A) c.3441+16331C>T (n.3441+16331C>T) c.*530G>A (n.*530G>A) c.1705G>A (p.Val569Ile) c.276+16331C>T (n.276+16331C>T) c.*220+6213G>A (n.*220+6213G>A) c.829G>A (p.Val277Ile) c.856G>A (p.Val286Ile) c.1711G>A (p.Val571Ile) c.1525G>A (p.Val509Ile) c.1444G>A (p.Val482Ile) c.1150G>A (p.Val384Ile) c.1531G>A (p.Val511Ile) | gnomAD v4 |
2 | g.48688012T>A | CA346744525 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1785A>T (p.Lys595Asn) c.*97A>T (n.*97A>T) c.3441+16332T>A (n.3441+16332T>A) c.*529A>T (n.*529A>T) c.1704A>T (p.Lys568Asn) c.276+16332T>A (n.276+16332T>A) c.*220+6212A>T (n.*220+6212A>T) c.828A>T (p.Lys276Asn) c.855A>T (p.Lys285Asn) c.1710A>T (p.Lys570Asn) c.1524A>T (p.Lys508Asn) c.1443A>T (p.Lys481Asn) c.1149A>T (p.Lys383Asn) c.1530A>T (p.Lys510Asn) | |
2 | g.48688012T>C | CA426124892 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1785A>G (p.Lys595=) c.*97A>G (n.*97A>G) c.3441+16332T>C (n.3441+16332T>C) c.*529A>G (n.*529A>G) c.1704A>G (p.Lys568=) c.276+16332T>C (n.276+16332T>C) c.*220+6212A>G (n.*220+6212A>G) c.828A>G (p.Lys276=) c.855A>G (p.Lys285=) c.1710A>G (p.Lys570=) c.1524A>G (p.Lys508=) c.1443A>G (p.Lys481=) c.1149A>G (p.Lys383=) c.1530A>G (p.Lys510=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688012T>G | CA346744527 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1785A>C (p.Lys595Asn) c.*97A>C (n.*97A>C) c.3441+16332T>G (n.3441+16332T>G) c.*529A>C (n.*529A>C) c.1704A>C (p.Lys568Asn) c.276+16332T>G (n.276+16332T>G) c.*220+6212A>C (n.*220+6212A>C) c.828A>C (p.Lys276Asn) c.855A>C (p.Lys285Asn) c.1710A>C (p.Lys570Asn) c.1524A>C (p.Lys508Asn) c.1443A>C (p.Lys481Asn) c.1149A>C (p.Lys383Asn) c.1530A>C (p.Lys510Asn) | |
2 | g.48688012T= | CA1248600947 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1785A= (p.Lys595=) c.*97A= (n.*97A=) c.3441+16332T= (n.3441+16332T=) c.*529A= (n.*529A=) c.1704A= (p.Lys568=) c.276+16332T= (n.276+16332T=) c.*220+6212A= (n.*220+6212A=) c.828A= (p.Lys276=) c.855A= (p.Lys285=) c.1710A= (p.Lys570=) c.1524A= (p.Lys508=) c.1443A= (p.Lys481=) c.1149A= (p.Lys383=) c.1530A= (p.Lys510=) | |
2 | g.48688013T>A | CA346744530 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1784A>T (p.Lys595Ile) c.*96A>T (n.*96A>T) c.3441+16333T>A (n.3441+16333T>A) c.*528A>T (n.*528A>T) c.1703A>T (p.Lys568Ile) c.276+16333T>A (n.276+16333T>A) c.*220+6211A>T (n.*220+6211A>T) c.827A>T (p.Lys276Ile) c.854A>T (p.Lys285Ile) c.1709A>T (p.Lys570Ile) c.1523A>T (p.Lys508Ile) c.1442A>T (p.Lys481Ile) c.1148A>T (p.Lys383Ile) c.1529A>T (p.Lys510Ile) | |
2 | g.48688013T>C | CA346744533 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1784A>G (p.Lys595Arg) c.*96A>G (n.*96A>G) c.3441+16333T>C (n.3441+16333T>C) c.*528A>G (n.*528A>G) c.1703A>G (p.Lys568Arg) c.276+16333T>C (n.276+16333T>C) c.*220+6211A>G (n.*220+6211A>G) c.827A>G (p.Lys276Arg) c.854A>G (p.Lys285Arg) c.1709A>G (p.Lys570Arg) c.1523A>G (p.Lys508Arg) c.1442A>G (p.Lys481Arg) c.1148A>G (p.Lys383Arg) c.1529A>G (p.Lys510Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688013T>G | CA346744536 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1784A>C (p.Lys595Thr) c.*96A>C (n.*96A>C) c.3441+16333T>G (n.3441+16333T>G) c.*528A>C (n.*528A>C) c.1703A>C (p.Lys568Thr) c.276+16333T>G (n.276+16333T>G) c.*220+6211A>C (n.*220+6211A>C) c.827A>C (p.Lys276Thr) c.854A>C (p.Lys285Thr) c.1709A>C (p.Lys570Thr) c.1523A>C (p.Lys508Thr) c.1442A>C (p.Lys481Thr) c.1148A>C (p.Lys383Thr) c.1529A>C (p.Lys510Thr) | |
2 | g.48688013T= | CA1248600948 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1784A= (p.Lys595=) c.*96A= (n.*96A=) c.3441+16333T= (n.3441+16333T=) c.*528A= (n.*528A=) c.1703A= (p.Lys568=) c.276+16333T= (n.276+16333T=) c.*220+6211A= (n.*220+6211A=) c.827A= (p.Lys276=) c.854A= (p.Lys285=) c.1709A= (p.Lys570=) c.1523A= (p.Lys508=) c.1442A= (p.Lys481=) c.1148A= (p.Lys383=) c.1529A= (p.Lys510=) | |
2 | g.48688014T>A | CA346744539 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1783A>T (p.Lys595Ter) c.*95A>T (n.*95A>T) c.3441+16334T>A (n.3441+16334T>A) c.*527A>T (n.*527A>T) c.1702A>T (p.Lys568Ter) c.276+16334T>A (n.276+16334T>A) c.*220+6210A>T (n.*220+6210A>T) c.826A>T (p.Lys276Ter) c.853A>T (p.Lys285Ter) c.1708A>T (p.Lys570Ter) c.1522A>T (p.Lys508Ter) c.1441A>T (p.Lys481Ter) c.1147A>T (p.Lys383Ter) c.1528A>T (p.Lys510Ter) | |
2 | g.48688014T>C | CA346744541 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1783A>G (p.Lys595Glu) c.*95A>G (n.*95A>G) c.3441+16334T>C (n.3441+16334T>C) c.*527A>G (n.*527A>G) c.1702A>G (p.Lys568Glu) c.276+16334T>C (n.276+16334T>C) c.*220+6210A>G (n.*220+6210A>G) c.826A>G (p.Lys276Glu) c.853A>G (p.Lys285Glu) c.1708A>G (p.Lys570Glu) c.1522A>G (p.Lys508Glu) c.1441A>G (p.Lys481Glu) c.1147A>G (p.Lys383Glu) c.1528A>G (p.Lys510Glu) | |
2 | g.48688014T>G | CA346744544 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1783A>C (p.Lys595Gln) c.*95A>C (n.*95A>C) c.3441+16334T>G (n.3441+16334T>G) c.*527A>C (n.*527A>C) c.1702A>C (p.Lys568Gln) c.276+16334T>G (n.276+16334T>G) c.*220+6210A>C (n.*220+6210A>C) c.826A>C (p.Lys276Gln) c.853A>C (p.Lys285Gln) c.1708A>C (p.Lys570Gln) c.1522A>C (p.Lys508Gln) c.1441A>C (p.Lys481Gln) c.1147A>C (p.Lys383Gln) c.1528A>C (p.Lys510Gln) | |
2 | g.48688015G>A | CA426124893 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1782C>T (p.Phe594=) c.*94C>T (n.*94C>T) c.3441+16335G>A (n.3441+16335G>A) c.*526C>T (n.*526C>T) c.1701C>T (p.Phe567=) c.276+16335G>A (n.276+16335G>A) c.*220+6209C>T (n.*220+6209C>T) c.825C>T (p.Phe275=) c.852C>T (p.Phe284=) c.1707C>T (p.Phe569=) c.1521C>T (p.Phe507=) c.1440C>T (p.Phe480=) c.1146C>T (p.Phe382=) c.1527C>T (p.Phe509=) | |
2 | g.48688015G>C | CA346744547 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1782C>G (p.Phe594Leu) c.*94C>G (n.*94C>G) c.3441+16335G>C (n.3441+16335G>C) c.*526C>G (n.*526C>G) c.1701C>G (p.Phe567Leu) c.276+16335G>C (n.276+16335G>C) c.*220+6209C>G (n.*220+6209C>G) c.825C>G (p.Phe275Leu) c.852C>G (p.Phe284Leu) c.1707C>G (p.Phe569Leu) c.1521C>G (p.Phe507Leu) c.1440C>G (p.Phe480Leu) c.1146C>G (p.Phe382Leu) c.1527C>G (p.Phe509Leu) | dbSNP |
2 | g.48688015G>T | CA346744549 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1782C>A (p.Phe594Leu) c.*94C>A (n.*94C>A) c.3441+16335G>T (n.3441+16335G>T) c.*526C>A (n.*526C>A) c.1701C>A (p.Phe567Leu) c.276+16335G>T (n.276+16335G>T) c.*220+6209C>A (n.*220+6209C>A) c.825C>A (p.Phe275Leu) c.852C>A (p.Phe284Leu) c.1707C>A (p.Phe569Leu) c.1521C>A (p.Phe507Leu) c.1440C>A (p.Phe480Leu) c.1146C>A (p.Phe382Leu) c.1527C>A (p.Phe509Leu) | |
2 | g.48688016A>C | CA346744556 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1781T>G (p.Phe594Cys) c.*93T>G (n.*93T>G) c.3441+16336A>C (n.3441+16336A>C) c.*525T>G (n.*525T>G) c.1700T>G (p.Phe567Cys) c.276+16336A>C (n.276+16336A>C) c.*220+6208T>G (n.*220+6208T>G) c.824T>G (p.Phe275Cys) c.851T>G (p.Phe284Cys) c.1706T>G (p.Phe569Cys) c.1520T>G (p.Phe507Cys) c.1439T>G (p.Phe480Cys) c.1145T>G (p.Phe382Cys) c.1526T>G (p.Phe509Cys) | |
2 | g.48688016A>G | CA346744557 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1781T>C (p.Phe594Ser) c.*93T>C (n.*93T>C) c.3441+16336A>G (n.3441+16336A>G) c.*525T>C (n.*525T>C) c.1700T>C (p.Phe567Ser) c.276+16336A>G (n.276+16336A>G) c.*220+6208T>C (n.*220+6208T>C) c.824T>C (p.Phe275Ser) c.851T>C (p.Phe284Ser) c.1706T>C (p.Phe569Ser) c.1520T>C (p.Phe507Ser) c.1439T>C (p.Phe480Ser) c.1145T>C (p.Phe382Ser) c.1526T>C (p.Phe509Ser) | |
2 | g.48688016A>T | CA346744559 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1781T>A (p.Phe594Tyr) c.*93T>A (n.*93T>A) c.3441+16336A>T (n.3441+16336A>T) c.*525T>A (n.*525T>A) c.1700T>A (p.Phe567Tyr) c.276+16336A>T (n.276+16336A>T) c.*220+6208T>A (n.*220+6208T>A) c.824T>A (p.Phe275Tyr) c.851T>A (p.Phe284Tyr) c.1706T>A (p.Phe569Tyr) c.1520T>A (p.Phe507Tyr) c.1439T>A (p.Phe480Tyr) c.1145T>A (p.Phe382Tyr) c.1526T>A (p.Phe509Tyr) | |
2 | g.48688017A>C | CA346744566 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1780T>G (p.Phe594Val) c.*92T>G (n.*92T>G) c.3441+16337A>C (n.3441+16337A>C) c.*524T>G (n.*524T>G) c.1699T>G (p.Phe567Val) c.276+16337A>C (n.276+16337A>C) c.*220+6207T>G (n.*220+6207T>G) c.823T>G (p.Phe275Val) c.850T>G (p.Phe284Val) c.1705T>G (p.Phe569Val) c.1519T>G (p.Phe507Val) c.1438T>G (p.Phe480Val) c.1144T>G (p.Phe382Val) c.1525T>G (p.Phe509Val) | |
2 | g.48688017A>G | CA346744564 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1780T>C (p.Phe594Leu) c.*92T>C (n.*92T>C) c.3441+16337A>G (n.3441+16337A>G) c.*524T>C (n.*524T>C) c.1699T>C (p.Phe567Leu) c.276+16337A>G (n.276+16337A>G) c.*220+6207T>C (n.*220+6207T>C) c.823T>C (p.Phe275Leu) c.850T>C (p.Phe284Leu) c.1705T>C (p.Phe569Leu) c.1519T>C (p.Phe507Leu) c.1438T>C (p.Phe480Leu) c.1144T>C (p.Phe382Leu) c.1525T>C (p.Phe509Leu) | |
2 | g.48688017A>T | CA346744562 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1780T>A (p.Phe594Ile) c.*92T>A (n.*92T>A) c.3441+16337A>T (n.3441+16337A>T) c.*524T>A (n.*524T>A) c.1699T>A (p.Phe567Ile) c.276+16337A>T (n.276+16337A>T) c.*220+6207T>A (n.*220+6207T>A) c.823T>A (p.Phe275Ile) c.850T>A (p.Phe284Ile) c.1705T>A (p.Phe569Ile) c.1519T>A (p.Phe507Ile) c.1438T>A (p.Phe480Ile) c.1144T>A (p.Phe382Ile) c.1525T>A (p.Phe509Ile) | |
2 | g.48688018G>A | CA426124894 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1779C>T (p.Ala593=) c.*91C>T (n.*91C>T) c.3441+16338G>A (n.3441+16338G>A) c.*523C>T (n.*523C>T) c.1698C>T (p.Ala566=) c.276+16338G>A (n.276+16338G>A) c.*220+6206C>T (n.*220+6206C>T) c.822C>T (p.Ala274=) c.849C>T (p.Ala283=) c.1704C>T (p.Ala568=) c.1518C>T (p.Ala506=) c.1437C>T (p.Ala479=) c.1143C>T (p.Ala381=) c.1524C>T (p.Ala508=) | |
2 | g.48688018G>C | CA426124895 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1779C>G (p.Ala593=) c.*91C>G (n.*91C>G) c.3441+16338G>C (n.3441+16338G>C) c.*523C>G (n.*523C>G) c.1698C>G (p.Ala566=) c.276+16338G>C (n.276+16338G>C) c.*220+6206C>G (n.*220+6206C>G) c.822C>G (p.Ala274=) c.849C>G (p.Ala283=) c.1704C>G (p.Ala568=) c.1518C>G (p.Ala506=) c.1437C>G (p.Ala479=) c.1143C>G (p.Ala381=) c.1524C>G (p.Ala508=) | |
2 | g.48688018G>T | CA426124896 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1779C>A (p.Ala593=) c.*91C>A (n.*91C>A) c.3441+16338G>T (n.3441+16338G>T) c.*523C>A (n.*523C>A) c.1698C>A (p.Ala566=) c.276+16338G>T (n.276+16338G>T) c.*220+6206C>A (n.*220+6206C>A) c.822C>A (p.Ala274=) c.849C>A (p.Ala283=) c.1704C>A (p.Ala568=) c.1518C>A (p.Ala506=) c.1437C>A (p.Ala479=) c.1143C>A (p.Ala381=) c.1524C>A (p.Ala508=) | |
2 | g.48688019G>A | CA346744568 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1778C>T (p.Ala593Val) c.*90C>T (n.*90C>T) c.3441+16339G>A (n.3441+16339G>A) c.*522C>T (n.*522C>T) c.1697C>T (p.Ala566Val) c.276+16339G>A (n.276+16339G>A) c.*220+6205C>T (n.*220+6205C>T) c.821C>T (p.Ala274Val) c.848C>T (p.Ala283Val) c.1703C>T (p.Ala568Val) c.1517C>T (p.Ala506Val) c.1436C>T (p.Ala479Val) c.1142C>T (p.Ala381Val) c.1523C>T (p.Ala508Val) | dbSNP |
2 | g.48688019G>C | CA346744569 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1778C>G (p.Ala593Gly) c.*90C>G (n.*90C>G) c.3441+16339G>C (n.3441+16339G>C) c.*522C>G (n.*522C>G) c.1697C>G (p.Ala566Gly) c.276+16339G>C (n.276+16339G>C) c.*220+6205C>G (n.*220+6205C>G) c.821C>G (p.Ala274Gly) c.848C>G (p.Ala283Gly) c.1703C>G (p.Ala568Gly) c.1517C>G (p.Ala506Gly) c.1436C>G (p.Ala479Gly) c.1142C>G (p.Ala381Gly) c.1523C>G (p.Ala508Gly) | |
2 | g.48688019G= | CA1248600949 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1778C= (p.Ala593=) c.*90C= (n.*90C=) c.3441+16339G= (n.3441+16339G=) c.*522C= (n.*522C=) c.1697C= (p.Ala566=) c.276+16339G= (n.276+16339G=) c.*220+6205C= (n.*220+6205C=) c.821C= (p.Ala274=) c.848C= (p.Ala283=) c.1703C= (p.Ala568=) c.1517C= (p.Ala506=) c.1436C= (p.Ala479=) c.1142C= (p.Ala381=) c.1523C= (p.Ala508=) | |
2 | g.48688019G>T | CA346744570 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1778C>A (p.Ala593Asp) c.*90C>A (n.*90C>A) c.3441+16339G>T (n.3441+16339G>T) c.*522C>A (n.*522C>A) c.1697C>A (p.Ala566Asp) c.276+16339G>T (n.276+16339G>T) c.*220+6205C>A (n.*220+6205C>A) c.821C>A (p.Ala274Asp) c.848C>A (p.Ala283Asp) c.1703C>A (p.Ala568Asp) c.1517C>A (p.Ala506Asp) c.1436C>A (p.Ala479Asp) c.1142C>A (p.Ala381Asp) c.1523C>A (p.Ala508Asp) | dbSNP gnomAD v4 |
2 | g.48688020C>A | CA346744575 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1777G>T (p.Ala593Ser) c.*89G>T (n.*89G>T) c.3441+16340C>A (n.3441+16340C>A) c.*521G>T (n.*521G>T) c.1696G>T (p.Ala566Ser) c.276+16340C>A (n.276+16340C>A) c.*220+6204G>T (n.*220+6204G>T) c.820G>T (p.Ala274Ser) c.847G>T (p.Ala283Ser) c.1702G>T (p.Ala568Ser) c.1516G>T (p.Ala506Ser) c.1435G>T (p.Ala479Ser) c.1141G>T (p.Ala381Ser) c.1522G>T (p.Ala508Ser) | |
2 | g.48688020C= | CA1248600950 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1777G= (p.Ala593=) c.*89G= (n.*89G=) c.3441+16340C= (n.3441+16340C=) c.*521G= (n.*521G=) c.1696G= (p.Ala566=) c.276+16340C= (n.276+16340C=) c.*220+6204G= (n.*220+6204G=) c.820G= (p.Ala274=) c.847G= (p.Ala283=) c.1702G= (p.Ala568=) c.1516G= (p.Ala506=) c.1435G= (p.Ala479=) c.1141G= (p.Ala381=) c.1522G= (p.Ala508=) | |
2 | g.48688020C>G | CA123918 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1777G>C (p.Ala593Pro) c.*89G>C (n.*89G>C) c.3441+16340C>G (n.3441+16340C>G) c.*521G>C (n.*521G>C) c.1696G>C (p.Ala566Pro) c.276+16340C>G (n.276+16340C>G) c.*220+6204G>C (n.*220+6204G>C) c.820G>C (p.Ala274Pro) c.847G>C (p.Ala283Pro) c.1702G>C (p.Ala568Pro) c.1516G>C (p.Ala506Pro) c.1435G>C (p.Ala479Pro) c.1141G>C (p.Ala381Pro) c.1522G>C (p.Ala508Pro) | ClinVar dbSNP |
2 | g.48688020C>T | CA346744582 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1777G>A (p.Ala593Thr) c.*89G>A (n.*89G>A) c.3441+16340C>T (n.3441+16340C>T) c.*521G>A (n.*521G>A) c.1696G>A (p.Ala566Thr) c.276+16340C>T (n.276+16340C>T) c.*220+6204G>A (n.*220+6204G>A) c.820G>A (p.Ala274Thr) c.847G>A (p.Ala283Thr) c.1702G>A (p.Ala568Thr) c.1516G>A (p.Ala506Thr) c.1435G>A (p.Ala479Thr) c.1141G>A (p.Ala381Thr) c.1522G>A (p.Ala508Thr) | |
2 | g.48688021A= | CA1248600951 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1776T= (p.Ala592=) c.*88T= (n.*88T=) c.3441+16341A= (n.3441+16341A=) c.*520T= (n.*520T=) c.1695T= (p.Ala565=) c.276+16341A= (n.276+16341A=) c.*220+6203T= (n.*220+6203T=) c.819T= (p.Ala273=) c.846T= (p.Ala282=) c.1701T= (p.Ala567=) c.1515T= (p.Ala505=) c.1434T= (p.Ala478=) c.1140T= (p.Ala380=) c.1521T= (p.Ala507=) | |
2 | g.48688021A>C | CA426124897 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1776T>G (p.Ala592=) c.*88T>G (n.*88T>G) c.3441+16341A>C (n.3441+16341A>C) c.*520T>G (n.*520T>G) c.1695T>G (p.Ala565=) c.276+16341A>C (n.276+16341A>C) c.*220+6203T>G (n.*220+6203T>G) c.819T>G (p.Ala273=) c.846T>G (p.Ala282=) c.1701T>G (p.Ala567=) c.1515T>G (p.Ala505=) c.1434T>G (p.Ala478=) c.1140T>G (p.Ala380=) c.1521T>G (p.Ala507=) | |
2 | g.48688021A>G | CA1652991 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1776T>C (p.Ala592=) c.*88T>C (n.*88T>C) c.3441+16341A>G (n.3441+16341A>G) c.*520T>C (n.*520T>C) c.1695T>C (p.Ala565=) c.276+16341A>G (n.276+16341A>G) c.*220+6203T>C (n.*220+6203T>C) c.819T>C (p.Ala273=) c.846T>C (p.Ala282=) c.1701T>C (p.Ala567=) c.1515T>C (p.Ala505=) c.1434T>C (p.Ala478=) c.1140T>C (p.Ala380=) c.1521T>C (p.Ala507=) | dbSNP ExAC gnomAD v2 |
2 | g.48688021A>T | CA426124898 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1776T>A (p.Ala592=) c.*88T>A (n.*88T>A) c.3441+16341A>T (n.3441+16341A>T) c.*520T>A (n.*520T>A) c.1695T>A (p.Ala565=) c.276+16341A>T (n.276+16341A>T) c.*220+6203T>A (n.*220+6203T>A) c.819T>A (p.Ala273=) c.846T>A (p.Ala282=) c.1701T>A (p.Ala567=) c.1515T>A (p.Ala505=) c.1434T>A (p.Ala478=) c.1140T>A (p.Ala380=) c.1521T>A (p.Ala507=) | |
2 | g.48688022G>A | CA346744586 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1775C>T (p.Ala592Val) c.*87C>T (n.*87C>T) c.3441+16342G>A (n.3441+16342G>A) c.*519C>T (n.*519C>T) c.1694C>T (p.Ala565Val) c.276+16342G>A (n.276+16342G>A) c.*220+6202C>T (n.*220+6202C>T) c.818C>T (p.Ala273Val) c.845C>T (p.Ala282Val) c.1700C>T (p.Ala567Val) c.1514C>T (p.Ala505Val) c.1433C>T (p.Ala478Val) c.1139C>T (p.Ala380Val) c.1520C>T (p.Ala507Val) | |
2 | g.48688022G>C | CA346744588 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1775C>G (p.Ala592Gly) c.*87C>G (n.*87C>G) c.3441+16342G>C (n.3441+16342G>C) c.*519C>G (n.*519C>G) c.1694C>G (p.Ala565Gly) c.276+16342G>C (n.276+16342G>C) c.*220+6202C>G (n.*220+6202C>G) c.818C>G (p.Ala273Gly) c.845C>G (p.Ala282Gly) c.1700C>G (p.Ala567Gly) c.1514C>G (p.Ala505Gly) c.1433C>G (p.Ala478Gly) c.1139C>G (p.Ala380Gly) c.1520C>G (p.Ala507Gly) | |
2 | g.48688022G>T | CA346744590 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1775C>A (p.Ala592Asp) c.*87C>A (n.*87C>A) c.3441+16342G>T (n.3441+16342G>T) c.*519C>A (n.*519C>A) c.1694C>A (p.Ala565Asp) c.276+16342G>T (n.276+16342G>T) c.*220+6202C>A (n.*220+6202C>A) c.818C>A (p.Ala273Asp) c.845C>A (p.Ala282Asp) c.1700C>A (p.Ala567Asp) c.1514C>A (p.Ala505Asp) c.1433C>A (p.Ala478Asp) c.1139C>A (p.Ala380Asp) c.1520C>A (p.Ala507Asp) | |
2 | g.48688023C>A | CA346744593 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1774G>T (p.Ala592Ser) c.*86G>T (n.*86G>T) c.3441+16343C>A (n.3441+16343C>A) c.*518G>T (n.*518G>T) c.1693G>T (p.Ala565Ser) c.276+16343C>A (n.276+16343C>A) c.*220+6201G>T (n.*220+6201G>T) c.817G>T (p.Ala273Ser) c.844G>T (p.Ala282Ser) c.1699G>T (p.Ala567Ser) c.1513G>T (p.Ala505Ser) c.1432G>T (p.Ala478Ser) c.1138G>T (p.Ala380Ser) c.1519G>T (p.Ala507Ser) | |
2 | g.48688023C>G | CA346744595 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1774G>C (p.Ala592Pro) c.*86G>C (n.*86G>C) c.3441+16343C>G (n.3441+16343C>G) c.*518G>C (n.*518G>C) c.1693G>C (p.Ala565Pro) c.276+16343C>G (n.276+16343C>G) c.*220+6201G>C (n.*220+6201G>C) c.817G>C (p.Ala273Pro) c.844G>C (p.Ala282Pro) c.1699G>C (p.Ala567Pro) c.1513G>C (p.Ala505Pro) c.1432G>C (p.Ala478Pro) c.1138G>C (p.Ala380Pro) c.1519G>C (p.Ala507Pro) | |
2 | g.48688023C>T | CA346744596 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1774G>A (p.Ala592Thr) c.*86G>A (n.*86G>A) c.3441+16343C>T (n.3441+16343C>T) c.*518G>A (n.*518G>A) c.1693G>A (p.Ala565Thr) c.276+16343C>T (n.276+16343C>T) c.*220+6201G>A (n.*220+6201G>A) c.817G>A (p.Ala273Thr) c.844G>A (p.Ala282Thr) c.1699G>A (p.Ala567Thr) c.1513G>A (p.Ala505Thr) c.1432G>A (p.Ala478Thr) c.1138G>A (p.Ala380Thr) c.1519G>A (p.Ala507Thr) | gnomAD v4 |
2 | g.48688024T>A | CA426124899 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1773A>T (p.Ser591=) c.*85A>T (n.*85A>T) c.3441+16344T>A (n.3441+16344T>A) c.*517A>T (n.*517A>T) c.1692A>T (p.Ser564=) c.276+16344T>A (n.276+16344T>A) c.*220+6200A>T (n.*220+6200A>T) c.816A>T (p.Ser272=) c.843A>T (p.Ser281=) c.1698A>T (p.Ser566=) c.1512A>T (p.Ser504=) c.1431A>T (p.Ser477=) c.1137A>T (p.Ser379=) c.1518A>T (p.Ser506=) | |
2 | g.48688024T>C | CA426124901 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1773A>G (p.Ser591=) c.*85A>G (n.*85A>G) c.3441+16344T>C (n.3441+16344T>C) c.*517A>G (n.*517A>G) c.1692A>G (p.Ser564=) c.276+16344T>C (n.276+16344T>C) c.*220+6200A>G (n.*220+6200A>G) c.816A>G (p.Ser272=) c.843A>G (p.Ser281=) c.1698A>G (p.Ser566=) c.1512A>G (p.Ser504=) c.1431A>G (p.Ser477=) c.1137A>G (p.Ser379=) c.1518A>G (p.Ser506=) | |
2 | g.48688024T>G | CA426124900 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1773A>C (p.Ser591=) c.*85A>C (n.*85A>C) c.3441+16344T>G (n.3441+16344T>G) c.*517A>C (n.*517A>C) c.1692A>C (p.Ser564=) c.276+16344T>G (n.276+16344T>G) c.*220+6200A>C (n.*220+6200A>C) c.816A>C (p.Ser272=) c.843A>C (p.Ser281=) c.1698A>C (p.Ser566=) c.1512A>C (p.Ser504=) c.1431A>C (p.Ser477=) c.1137A>C (p.Ser379=) c.1518A>C (p.Ser506=) | gnomAD v4 |
2 | g.48688025G>A | CA346744599 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1772C>T (p.Ser591Leu) c.*84C>T (n.*84C>T) c.3441+16345G>A (n.3441+16345G>A) c.*516C>T (n.*516C>T) c.1691C>T (p.Ser564Leu) c.276+16345G>A (n.276+16345G>A) c.*220+6199C>T (n.*220+6199C>T) c.815C>T (p.Ser272Leu) c.842C>T (p.Ser281Leu) c.1697C>T (p.Ser566Leu) c.1511C>T (p.Ser504Leu) c.1430C>T (p.Ser477Leu) c.1136C>T (p.Ser379Leu) c.1517C>T (p.Ser506Leu) | |
2 | g.48688025G>C | CA346744602 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1772C>G (p.Ser591Ter) c.*84C>G (n.*84C>G) c.3441+16345G>C (n.3441+16345G>C) c.*516C>G (n.*516C>G) c.1691C>G (p.Ser564Ter) c.276+16345G>C (n.276+16345G>C) c.*220+6199C>G (n.*220+6199C>G) c.815C>G (p.Ser272Ter) c.842C>G (p.Ser281Ter) c.1697C>G (p.Ser566Ter) c.1511C>G (p.Ser504Ter) c.1430C>G (p.Ser477Ter) c.1136C>G (p.Ser379Ter) c.1517C>G (p.Ser506Ter) | |
2 | g.48688025G>T | CA346744598 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1772C>A (p.Ser591Ter) c.*84C>A (n.*84C>A) c.3441+16345G>T (n.3441+16345G>T) c.*516C>A (n.*516C>A) c.1691C>A (p.Ser564Ter) c.276+16345G>T (n.276+16345G>T) c.*220+6199C>A (n.*220+6199C>A) c.815C>A (p.Ser272Ter) c.842C>A (p.Ser281Ter) c.1697C>A (p.Ser566Ter) c.1511C>A (p.Ser504Ter) c.1430C>A (p.Ser477Ter) c.1136C>A (p.Ser379Ter) c.1517C>A (p.Ser506Ter) | dbSNP |
2 | g.48688026A>C | CA346744608 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1771T>G (p.Ser591Ala) c.*83T>G (n.*83T>G) c.3441+16346A>C (n.3441+16346A>C) c.*515T>G (n.*515T>G) c.1690T>G (p.Ser564Ala) c.276+16346A>C (n.276+16346A>C) c.*220+6198T>G (n.*220+6198T>G) c.814T>G (p.Ser272Ala) c.841T>G (p.Ser281Ala) c.1696T>G (p.Ser566Ala) c.1510T>G (p.Ser504Ala) c.1429T>G (p.Ser477Ala) c.1135T>G (p.Ser379Ala) c.1516T>G (p.Ser506Ala) | |
2 | g.48688026A>G | CA346744605 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1771T>C (p.Ser591Pro) c.*83T>C (n.*83T>C) c.3441+16346A>G (n.3441+16346A>G) c.*515T>C (n.*515T>C) c.1690T>C (p.Ser564Pro) c.276+16346A>G (n.276+16346A>G) c.*220+6198T>C (n.*220+6198T>C) c.814T>C (p.Ser272Pro) c.841T>C (p.Ser281Pro) c.1696T>C (p.Ser566Pro) c.1510T>C (p.Ser504Pro) c.1429T>C (p.Ser477Pro) c.1135T>C (p.Ser379Pro) c.1516T>C (p.Ser506Pro) | |
2 | g.48688026A>T | CA346744617 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1771T>A (p.Ser591Thr) c.*83T>A (n.*83T>A) c.3441+16346A>T (n.3441+16346A>T) c.*515T>A (n.*515T>A) c.1690T>A (p.Ser564Thr) c.276+16346A>T (n.276+16346A>T) c.*220+6198T>A (n.*220+6198T>A) c.814T>A (p.Ser272Thr) c.841T>A (p.Ser281Thr) c.1696T>A (p.Ser566Thr) c.1510T>A (p.Ser504Thr) c.1429T>A (p.Ser477Thr) c.1135T>A (p.Ser379Thr) c.1516T>A (p.Ser506Thr) | |
2 | g.48688027G>A | CA426124902 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1770C>T (p.Ile590=) c.*82C>T (n.*82C>T) c.3441+16347G>A (n.3441+16347G>A) c.*514C>T (n.*514C>T) c.1689C>T (p.Ile563=) c.276+16347G>A (n.276+16347G>A) c.*220+6197C>T (n.*220+6197C>T) c.813C>T (p.Ile271=) c.840C>T (p.Ile280=) c.1695C>T (p.Ile565=) c.1509C>T (p.Ile503=) c.1428C>T (p.Ile476=) c.1134C>T (p.Ile378=) c.1515C>T (p.Ile505=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688027G>C | CA346744620 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1770C>G (p.Ile590Met) c.*82C>G (n.*82C>G) c.3441+16347G>C (n.3441+16347G>C) c.*514C>G (n.*514C>G) c.1689C>G (p.Ile563Met) c.276+16347G>C (n.276+16347G>C) c.*220+6197C>G (n.*220+6197C>G) c.813C>G (p.Ile271Met) c.840C>G (p.Ile280Met) c.1695C>G (p.Ile565Met) c.1509C>G (p.Ile503Met) c.1428C>G (p.Ile476Met) c.1134C>G (p.Ile378Met) c.1515C>G (p.Ile505Met) | |
2 | g.48688027G= | CA1248600952 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1770C= (p.Ile590=) c.*82C= (n.*82C=) c.3441+16347G= (n.3441+16347G=) c.*514C= (n.*514C=) c.1689C= (p.Ile563=) c.276+16347G= (n.276+16347G=) c.*220+6197C= (n.*220+6197C=) c.813C= (p.Ile271=) c.840C= (p.Ile280=) c.1695C= (p.Ile565=) c.1509C= (p.Ile503=) c.1428C= (p.Ile476=) c.1134C= (p.Ile378=) c.1515C= (p.Ile505=) | |
2 | g.48688027G>T | CA426124903 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1770C>A (p.Ile590=) c.*82C>A (n.*82C>A) c.3441+16347G>T (n.3441+16347G>T) c.*514C>A (n.*514C>A) c.1689C>A (p.Ile563=) c.276+16347G>T (n.276+16347G>T) c.*220+6197C>A (n.*220+6197C>A) c.813C>A (p.Ile271=) c.840C>A (p.Ile280=) c.1695C>A (p.Ile565=) c.1509C>A (p.Ile503=) c.1428C>A (p.Ile476=) c.1134C>A (p.Ile378=) c.1515C>A (p.Ile505=) | |
2 | g.48688028A= | CA1248600953 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1769T= (p.Ile590=) c.*81T= (n.*81T=) c.3441+16348A= (n.3441+16348A=) c.*513T= (n.*513T=) c.1688T= (p.Ile563=) c.276+16348A= (n.276+16348A=) c.*220+6196T= (n.*220+6196T=) c.812T= (p.Ile271=) c.839T= (p.Ile280=) c.1694T= (p.Ile565=) c.1508T= (p.Ile503=) c.1427T= (p.Ile476=) c.1133T= (p.Ile378=) c.1514T= (p.Ile505=) | |
2 | g.48688028A>C | CA346744622 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1769T>G (p.Ile590Ser) c.*81T>G (n.*81T>G) c.3441+16348A>C (n.3441+16348A>C) c.*513T>G (n.*513T>G) c.1688T>G (p.Ile563Ser) c.276+16348A>C (n.276+16348A>C) c.*220+6196T>G (n.*220+6196T>G) c.812T>G (p.Ile271Ser) c.839T>G (p.Ile280Ser) c.1694T>G (p.Ile565Ser) c.1508T>G (p.Ile503Ser) c.1427T>G (p.Ile476Ser) c.1133T>G (p.Ile378Ser) c.1514T>G (p.Ile505Ser) | |
2 | g.48688028A>G | CA1652992 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1769T>C (p.Ile590Thr) c.*81T>C (n.*81T>C) c.3441+16348A>G (n.3441+16348A>G) c.*513T>C (n.*513T>C) c.1688T>C (p.Ile563Thr) c.276+16348A>G (n.276+16348A>G) c.*220+6196T>C (n.*220+6196T>C) c.812T>C (p.Ile271Thr) c.839T>C (p.Ile280Thr) c.1694T>C (p.Ile565Thr) c.1508T>C (p.Ile503Thr) c.1427T>C (p.Ile476Thr) c.1133T>C (p.Ile378Thr) c.1514T>C (p.Ile505Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688028A>T | CA346744625 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1769T>A (p.Ile590Asn) c.*81T>A (n.*81T>A) c.3441+16348A>T (n.3441+16348A>T) c.*513T>A (n.*513T>A) c.1688T>A (p.Ile563Asn) c.276+16348A>T (n.276+16348A>T) c.*220+6196T>A (n.*220+6196T>A) c.812T>A (p.Ile271Asn) c.839T>A (p.Ile280Asn) c.1694T>A (p.Ile565Asn) c.1508T>A (p.Ile503Asn) c.1427T>A (p.Ile476Asn) c.1133T>A (p.Ile378Asn) c.1514T>A (p.Ile505Asn) | dbSNP |
2 | g.48688029T>A | CA346744628 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1768A>T (p.Ile590Phe) c.*80A>T (n.*80A>T) c.3441+16349T>A (n.3441+16349T>A) c.*512A>T (n.*512A>T) c.1687A>T (p.Ile563Phe) c.276+16349T>A (n.276+16349T>A) c.*220+6195A>T (n.*220+6195A>T) c.811A>T (p.Ile271Phe) c.838A>T (p.Ile280Phe) c.1693A>T (p.Ile565Phe) c.1507A>T (p.Ile503Phe) c.1426A>T (p.Ile476Phe) c.1132A>T (p.Ile378Phe) c.1513A>T (p.Ile505Phe) | |
2 | g.48688029T>C | CA1652993 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1768A>G (p.Ile590Val) c.*80A>G (n.*80A>G) c.3441+16349T>C (n.3441+16349T>C) c.*512A>G (n.*512A>G) c.1687A>G (p.Ile563Val) c.276+16349T>C (n.276+16349T>C) c.*220+6195A>G (n.*220+6195A>G) c.811A>G (p.Ile271Val) c.838A>G (p.Ile280Val) c.1693A>G (p.Ile565Val) c.1507A>G (p.Ile503Val) c.1426A>G (p.Ile476Val) c.1132A>G (p.Ile378Val) c.1513A>G (p.Ile505Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688029T>G | CA346744635 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1768A>C (p.Ile590Leu) c.*80A>C (n.*80A>C) c.3441+16349T>G (n.3441+16349T>G) c.*512A>C (n.*512A>C) c.1687A>C (p.Ile563Leu) c.276+16349T>G (n.276+16349T>G) c.*220+6195A>C (n.*220+6195A>C) c.811A>C (p.Ile271Leu) c.838A>C (p.Ile280Leu) c.1693A>C (p.Ile565Leu) c.1507A>C (p.Ile503Leu) c.1426A>C (p.Ile476Leu) c.1132A>C (p.Ile378Leu) c.1513A>C (p.Ile505Leu) | |
2 | g.48688029T= | CA1248600954 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1768A= (p.Ile590=) c.*80A= (n.*80A=) c.3441+16349T= (n.3441+16349T=) c.*512A= (n.*512A=) c.1687A= (p.Ile563=) c.276+16349T= (n.276+16349T=) c.*220+6195A= (n.*220+6195A=) c.811A= (p.Ile271=) c.838A= (p.Ile280=) c.1693A= (p.Ile565=) c.1507A= (p.Ile503=) c.1426A= (p.Ile476=) c.1132A= (p.Ile378=) c.1513A= (p.Ile505=) | |
2 | g.48688030G>A | CA426124904 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1767C>T (p.Ala589=) c.*79C>T (n.*79C>T) c.3441+16350G>A (n.3441+16350G>A) c.*511C>T (n.*511C>T) c.1686C>T (p.Ala562=) c.276+16350G>A (n.276+16350G>A) c.*220+6194C>T (n.*220+6194C>T) c.810C>T (p.Ala270=) c.837C>T (p.Ala279=) c.1692C>T (p.Ala564=) c.1506C>T (p.Ala502=) c.1425C>T (p.Ala475=) c.1131C>T (p.Ala377=) c.1512C>T (p.Ala504=) | |
2 | g.48688030G>C | CA426124905 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1767C>G (p.Ala589=) c.*79C>G (n.*79C>G) c.3441+16350G>C (n.3441+16350G>C) c.*511C>G (n.*511C>G) c.1686C>G (p.Ala562=) c.276+16350G>C (n.276+16350G>C) c.*220+6194C>G (n.*220+6194C>G) c.810C>G (p.Ala270=) c.837C>G (p.Ala279=) c.1692C>G (p.Ala564=) c.1506C>G (p.Ala502=) c.1425C>G (p.Ala475=) c.1131C>G (p.Ala377=) c.1512C>G (p.Ala504=) | |
2 | g.48688030G>T | CA426124906 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1767C>A (p.Ala589=) c.*79C>A (n.*79C>A) c.3441+16350G>T (n.3441+16350G>T) c.*511C>A (n.*511C>A) c.1686C>A (p.Ala562=) c.276+16350G>T (n.276+16350G>T) c.*220+6194C>A (n.*220+6194C>A) c.810C>A (p.Ala270=) c.837C>A (p.Ala279=) c.1692C>A (p.Ala564=) c.1506C>A (p.Ala502=) c.1425C>A (p.Ala475=) c.1131C>A (p.Ala377=) c.1512C>A (p.Ala504=) | |
2 | g.48688031G>A | CA46752774 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1766C>T (p.Ala589Val) c.*78C>T (n.*78C>T) c.3441+16351G>A (n.3441+16351G>A) c.*510C>T (n.*510C>T) c.1685C>T (p.Ala562Val) c.276+16351G>A (n.276+16351G>A) c.*220+6193C>T (n.*220+6193C>T) c.809C>T (p.Ala270Val) c.836C>T (p.Ala279Val) c.1691C>T (p.Ala564Val) c.1505C>T (p.Ala502Val) c.1424C>T (p.Ala475Val) c.1130C>T (p.Ala377Val) c.1511C>T (p.Ala504Val) | dbSNP COSMIC |
2 | g.48688031G>C | CA346744639 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1766C>G (p.Ala589Gly) c.*78C>G (n.*78C>G) c.3441+16351G>C (n.3441+16351G>C) c.*510C>G (n.*510C>G) c.1685C>G (p.Ala562Gly) c.276+16351G>C (n.276+16351G>C) c.*220+6193C>G (n.*220+6193C>G) c.809C>G (p.Ala270Gly) c.836C>G (p.Ala279Gly) c.1691C>G (p.Ala564Gly) c.1505C>G (p.Ala502Gly) c.1424C>G (p.Ala475Gly) c.1130C>G (p.Ala377Gly) c.1511C>G (p.Ala504Gly) | |
2 | g.48688031G= | CA1248600955 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1766C= (p.Ala589=) c.*78C= (n.*78C=) c.3441+16351G= (n.3441+16351G=) c.*510C= (n.*510C=) c.1685C= (p.Ala562=) c.276+16351G= (n.276+16351G=) c.*220+6193C= (n.*220+6193C=) c.809C= (p.Ala270=) c.836C= (p.Ala279=) c.1691C= (p.Ala564=) c.1505C= (p.Ala502=) c.1424C= (p.Ala475=) c.1130C= (p.Ala377=) c.1511C= (p.Ala504=) | |
2 | g.48688031G>T | CA346744641 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1766C>A (p.Ala589Asp) c.*78C>A (n.*78C>A) c.3441+16351G>T (n.3441+16351G>T) c.*510C>A (n.*510C>A) c.1685C>A (p.Ala562Asp) c.276+16351G>T (n.276+16351G>T) c.*220+6193C>A (n.*220+6193C>A) c.809C>A (p.Ala270Asp) c.836C>A (p.Ala279Asp) c.1691C>A (p.Ala564Asp) c.1505C>A (p.Ala502Asp) c.1424C>A (p.Ala475Asp) c.1130C>A (p.Ala377Asp) c.1511C>A (p.Ala504Asp) | |
2 | g.48688032C>A | CA346744645 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1765G>T (p.Ala589Ser) c.*77G>T (n.*77G>T) c.3441+16352C>A (n.3441+16352C>A) c.*509G>T (n.*509G>T) c.1684G>T (p.Ala562Ser) c.276+16352C>A (n.276+16352C>A) c.*220+6192G>T (n.*220+6192G>T) c.808G>T (p.Ala270Ser) c.835G>T (p.Ala279Ser) c.1690G>T (p.Ala564Ser) c.1504G>T (p.Ala502Ser) c.1423G>T (p.Ala475Ser) c.1129G>T (p.Ala377Ser) c.1510G>T (p.Ala504Ser) | |
2 | g.48688032C= | CA1248600956 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1765G= (p.Ala589=) c.*77G= (n.*77G=) c.3441+16352C= (n.3441+16352C=) c.*509G= (n.*509G=) c.1684G= (p.Ala562=) c.276+16352C= (n.276+16352C=) c.*220+6192G= (n.*220+6192G=) c.808G= (p.Ala270=) c.835G= (p.Ala279=) c.1690G= (p.Ala564=) c.1504G= (p.Ala502=) c.1423G= (p.Ala475=) c.1129G= (p.Ala377=) c.1510G= (p.Ala504=) | |
2 | g.48688032C>G | CA346744647 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1765G>C (p.Ala589Pro) c.*77G>C (n.*77G>C) c.3441+16352C>G (n.3441+16352C>G) c.*509G>C (n.*509G>C) c.1684G>C (p.Ala562Pro) c.276+16352C>G (n.276+16352C>G) c.*220+6192G>C (n.*220+6192G>C) c.808G>C (p.Ala270Pro) c.835G>C (p.Ala279Pro) c.1690G>C (p.Ala564Pro) c.1504G>C (p.Ala502Pro) c.1423G>C (p.Ala475Pro) c.1129G>C (p.Ala377Pro) c.1510G>C (p.Ala504Pro) | |
2 | g.48688032C>T | CA346744651 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1765G>A (p.Ala589Thr) c.*77G>A (n.*77G>A) c.3441+16352C>T (n.3441+16352C>T) c.*509G>A (n.*509G>A) c.1684G>A (p.Ala562Thr) c.276+16352C>T (n.276+16352C>T) c.*220+6192G>A (n.*220+6192G>A) c.808G>A (p.Ala270Thr) c.835G>A (p.Ala279Thr) c.1690G>A (p.Ala564Thr) c.1504G>A (p.Ala502Thr) c.1423G>A (p.Ala475Thr) c.1129G>A (p.Ala377Thr) c.1510G>A (p.Ala504Thr) | |
2 | g.48688033A= | CA1248600957 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1764T= (p.Phe588=) c.*76T= (n.*76T=) c.3441+16353A= (n.3441+16353A=) c.*508T= (n.*508T=) c.1683T= (p.Phe561=) c.276+16353A= (n.276+16353A=) c.*220+6191T= (n.*220+6191T=) c.807T= (p.Phe269=) c.834T= (p.Phe278=) c.1689T= (p.Phe563=) c.1503T= (p.Phe501=) c.1422T= (p.Phe474=) c.1128T= (p.Phe376=) c.1509T= (p.Phe503=) | |
2 | g.48688033A>C | CA346744655 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1764T>G (p.Phe588Leu) c.*76T>G (n.*76T>G) c.3441+16353A>C (n.3441+16353A>C) c.*508T>G (n.*508T>G) c.1683T>G (p.Phe561Leu) c.276+16353A>C (n.276+16353A>C) c.*220+6191T>G (n.*220+6191T>G) c.807T>G (p.Phe269Leu) c.834T>G (p.Phe278Leu) c.1689T>G (p.Phe563Leu) c.1503T>G (p.Phe501Leu) c.1422T>G (p.Phe474Leu) c.1128T>G (p.Phe376Leu) c.1509T>G (p.Phe503Leu) | |
2 | g.48688033A>G | CA426124907 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1764T>C (p.Phe588=) c.*76T>C (n.*76T>C) c.3441+16353A>G (n.3441+16353A>G) c.*508T>C (n.*508T>C) c.1683T>C (p.Phe561=) c.276+16353A>G (n.276+16353A>G) c.*220+6191T>C (n.*220+6191T>C) c.807T>C (p.Phe269=) c.834T>C (p.Phe278=) c.1689T>C (p.Phe563=) c.1503T>C (p.Phe501=) c.1422T>C (p.Phe474=) c.1128T>C (p.Phe376=) c.1509T>C (p.Phe503=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688033A>T | CA346744656 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1764T>A (p.Phe588Leu) c.*76T>A (n.*76T>A) c.3441+16353A>T (n.3441+16353A>T) c.*508T>A (n.*508T>A) c.1683T>A (p.Phe561Leu) c.276+16353A>T (n.276+16353A>T) c.*220+6191T>A (n.*220+6191T>A) c.807T>A (p.Phe269Leu) c.834T>A (p.Phe278Leu) c.1689T>A (p.Phe563Leu) c.1503T>A (p.Phe501Leu) c.1422T>A (p.Phe474Leu) c.1128T>A (p.Phe376Leu) c.1509T>A (p.Phe503Leu) | |
2 | g.48688039dup | CA532706158 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1764dup (p.Ala589CysfsTer17) c.*76dup (n.*76dup) c.3441+16359dup (n.3441+16359dup) c.*508dup (n.*508dup) c.1683dup (p.Ala562CysfsTer17) c.276+16359dup (n.276+16359dup) c.*220+6191dup (n.*220+6191dup) c.807dup (p.Ala270CysfsTer17) c.834dup (p.Ala279CysfsTer17) c.1689dup (p.Ala564CysfsTer17) c.1503dup (p.Ala502CysfsTer17) c.1422dup (p.Ala475CysfsTer17) c.1128dup (p.Ala377CysfsTer17) c.1509dup (p.Ala504CysfsTer17) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.48688039del | CA426124908 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1764del (p.Phe588LeufsTer14) c.*76del (n.*76del) c.3441+16359del (n.3441+16359del) c.*508del (n.*508del) c.1683del (p.Phe561LeufsTer14) c.276+16359del (n.276+16359del) c.*220+6191del (n.*220+6191del) c.807del (p.Phe269LeufsTer14) c.834del (p.Phe278LeufsTer14) c.1689del (p.Phe563LeufsTer14) c.1503del (p.Phe501LeufsTer14) c.1422del (p.Phe474LeufsTer14) c.1128del (p.Phe376LeufsTer14) c.1509del (p.Phe503LeufsTer14) | COSMIC |
2 | g.48688033_48688034insT | CA426124909 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1763_1764insA (p.Phe588LeufsTer18) c.*75_*76insA (n.*75_*76insA) c.3441+16353_3441+16354insT (n.3441+16353_3441+16354insT) c.*507_*508insA (n.*507_*508insA) c.1682_1683insA (p.Phe561LeufsTer18) c.276+16353_276+16354insT (n.276+16353_276+16354insT) c.*220+6190_*220+6191insA (n.*220+6190_*220+6191insA) c.806_807insA (p.Phe269LeufsTer18) c.833_834insA (p.Phe278LeufsTer18) c.1688_1689insA (p.Phe563LeufsTer18) c.1502_1503insA (p.Phe501LeufsTer18) c.1421_1422insA (p.Phe474LeufsTer18) c.1127_1128insA (p.Phe376LeufsTer18) c.1508_1509insA (p.Phe503LeufsTer18) | |
2 | g.48688034A>C | CA346744660 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1763T>G (p.Phe588Cys) c.*75T>G (n.*75T>G) c.3441+16354A>C (n.3441+16354A>C) c.*507T>G (n.*507T>G) c.1682T>G (p.Phe561Cys) c.276+16354A>C (n.276+16354A>C) c.*220+6190T>G (n.*220+6190T>G) c.806T>G (p.Phe269Cys) c.833T>G (p.Phe278Cys) c.1688T>G (p.Phe563Cys) c.1502T>G (p.Phe501Cys) c.1421T>G (p.Phe474Cys) c.1127T>G (p.Phe376Cys) c.1508T>G (p.Phe503Cys) | |
2 | g.48688034A>G | CA346744664 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1763T>C (p.Phe588Ser) c.*75T>C (n.*75T>C) c.3441+16354A>G (n.3441+16354A>G) c.*507T>C (n.*507T>C) c.1682T>C (p.Phe561Ser) c.276+16354A>G (n.276+16354A>G) c.*220+6190T>C (n.*220+6190T>C) c.806T>C (p.Phe269Ser) c.833T>C (p.Phe278Ser) c.1688T>C (p.Phe563Ser) c.1502T>C (p.Phe501Ser) c.1421T>C (p.Phe474Ser) c.1127T>C (p.Phe376Ser) c.1508T>C (p.Phe503Ser) | |
2 | g.48688034A>T | CA346744668 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1763T>A (p.Phe588Tyr) c.*75T>A (n.*75T>A) c.3441+16354A>T (n.3441+16354A>T) c.*507T>A (n.*507T>A) c.1682T>A (p.Phe561Tyr) c.276+16354A>T (n.276+16354A>T) c.*220+6190T>A (n.*220+6190T>A) c.806T>A (p.Phe269Tyr) c.833T>A (p.Phe278Tyr) c.1688T>A (p.Phe563Tyr) c.1502T>A (p.Phe501Tyr) c.1421T>A (p.Phe474Tyr) c.1127T>A (p.Phe376Tyr) c.1508T>A (p.Phe503Tyr) | |
2 | g.48688035A>C | CA346744671 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1762T>G (p.Phe588Val) c.*74T>G (n.*74T>G) c.3441+16355A>C (n.3441+16355A>C) c.*506T>G (n.*506T>G) c.1681T>G (p.Phe561Val) c.276+16355A>C (n.276+16355A>C) c.*220+6189T>G (n.*220+6189T>G) c.805T>G (p.Phe269Val) c.832T>G (p.Phe278Val) c.1687T>G (p.Phe563Val) c.1501T>G (p.Phe501Val) c.1420T>G (p.Phe474Val) c.1126T>G (p.Phe376Val) c.1507T>G (p.Phe503Val) | |
2 | g.48688035A>G | CA346744675 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1762T>C (p.Phe588Leu) c.*74T>C (n.*74T>C) c.3441+16355A>G (n.3441+16355A>G) c.*506T>C (n.*506T>C) c.1681T>C (p.Phe561Leu) c.276+16355A>G (n.276+16355A>G) c.*220+6189T>C (n.*220+6189T>C) c.805T>C (p.Phe269Leu) c.832T>C (p.Phe278Leu) c.1687T>C (p.Phe563Leu) c.1501T>C (p.Phe501Leu) c.1420T>C (p.Phe474Leu) c.1126T>C (p.Phe376Leu) c.1507T>C (p.Phe503Leu) | |
2 | g.48688035A>T | CA346744677 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1762T>A (p.Phe588Ile) c.*74T>A (n.*74T>A) c.3441+16355A>T (n.3441+16355A>T) c.*506T>A (n.*506T>A) c.1681T>A (p.Phe561Ile) c.276+16355A>T (n.276+16355A>T) c.*220+6189T>A (n.*220+6189T>A) c.805T>A (p.Phe269Ile) c.832T>A (p.Phe278Ile) c.1687T>A (p.Phe563Ile) c.1501T>A (p.Phe501Ile) c.1420T>A (p.Phe474Ile) c.1126T>A (p.Phe376Ile) c.1507T>A (p.Phe503Ile) | |
2 | g.48688036A>C | CA346744680 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1761T>G (p.Phe587Leu) c.*73T>G (n.*73T>G) c.3441+16356A>C (n.3441+16356A>C) c.*505T>G (n.*505T>G) c.1680T>G (p.Phe560Leu) c.276+16356A>C (n.276+16356A>C) c.*220+6188T>G (n.*220+6188T>G) c.804T>G (p.Phe268Leu) c.831T>G (p.Phe277Leu) c.1686T>G (p.Phe562Leu) c.1500T>G (p.Phe500Leu) c.1419T>G (p.Phe473Leu) c.1125T>G (p.Phe375Leu) c.1506T>G (p.Phe502Leu) | |
2 | g.48688036A>G | CA426124910 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1761T>C (p.Phe587=) c.*73T>C (n.*73T>C) c.3441+16356A>G (n.3441+16356A>G) c.*505T>C (n.*505T>C) c.1680T>C (p.Phe560=) c.276+16356A>G (n.276+16356A>G) c.*220+6188T>C (n.*220+6188T>C) c.804T>C (p.Phe268=) c.831T>C (p.Phe277=) c.1686T>C (p.Phe562=) c.1500T>C (p.Phe500=) c.1419T>C (p.Phe473=) c.1125T>C (p.Phe375=) c.1506T>C (p.Phe502=) | |
2 | g.48688036A>T | CA346744684 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1761T>A (p.Phe587Leu) c.*73T>A (n.*73T>A) c.3441+16356A>T (n.3441+16356A>T) c.*505T>A (n.*505T>A) c.1680T>A (p.Phe560Leu) c.276+16356A>T (n.276+16356A>T) c.*220+6188T>A (n.*220+6188T>A) c.804T>A (p.Phe268Leu) c.831T>A (p.Phe277Leu) c.1686T>A (p.Phe562Leu) c.1500T>A (p.Phe500Leu) c.1419T>A (p.Phe473Leu) c.1125T>A (p.Phe375Leu) c.1506T>A (p.Phe502Leu) | |
2 | g.48688037A>C | CA346744685 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1760T>G (p.Phe587Cys) c.*72T>G (n.*72T>G) c.3441+16357A>C (n.3441+16357A>C) c.*504T>G (n.*504T>G) c.1679T>G (p.Phe560Cys) c.276+16357A>C (n.276+16357A>C) c.*220+6187T>G (n.*220+6187T>G) c.803T>G (p.Phe268Cys) c.830T>G (p.Phe277Cys) c.1685T>G (p.Phe562Cys) c.1499T>G (p.Phe500Cys) c.1418T>G (p.Phe473Cys) c.1124T>G (p.Phe375Cys) c.1505T>G (p.Phe502Cys) | |
2 | g.48688037A>G | CA346744686 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1760T>C (p.Phe587Ser) c.*72T>C (n.*72T>C) c.3441+16357A>G (n.3441+16357A>G) c.*504T>C (n.*504T>C) c.1679T>C (p.Phe560Ser) c.276+16357A>G (n.276+16357A>G) c.*220+6187T>C (n.*220+6187T>C) c.803T>C (p.Phe268Ser) c.830T>C (p.Phe277Ser) c.1685T>C (p.Phe562Ser) c.1499T>C (p.Phe500Ser) c.1418T>C (p.Phe473Ser) c.1124T>C (p.Phe375Ser) c.1505T>C (p.Phe502Ser) | |
2 | g.48688037A>T | CA346744687 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1760T>A (p.Phe587Tyr) c.*72T>A (n.*72T>A) c.3441+16357A>T (n.3441+16357A>T) c.*504T>A (n.*504T>A) c.1679T>A (p.Phe560Tyr) c.276+16357A>T (n.276+16357A>T) c.*220+6187T>A (n.*220+6187T>A) c.803T>A (p.Phe268Tyr) c.830T>A (p.Phe277Tyr) c.1685T>A (p.Phe562Tyr) c.1499T>A (p.Phe500Tyr) c.1418T>A (p.Phe473Tyr) c.1124T>A (p.Phe375Tyr) c.1505T>A (p.Phe502Tyr) | |
2 | g.48688037_48688038insTGGCTTCACTGGATC | CA2520066976 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1759_1760insGATCCAGTGAAGCCA (p.Phe587Ter) c.*71_*72insGATCCAGTGAAGCCA (n.*71_*72insGATCCAGTGAAGCCA) c.3441+16357_3441+16358insTGGCTTCACTGGATC (n.3441+16357_3441+16358insTGGCTTCACTGGATC) c.*503_*504insGATCCAGTGAAGCCA (n.*503_*504insGATCCAGTGAAGCCA) c.1678_1679insGATCCAGTGAAGCCA (p.Phe560Ter) c.276+16357_276+16358insTGGCTTCACTGGATC (n.276+16357_276+16358insTGGCTTCACTGGATC) c.*220+6186_*220+6187insGATCCAGTGAAGCCA (n.*220+6186_*220+6187insGATCCAGTGAAGCCA) c.802_803insGATCCAGTGAAGCCA (p.Phe268Ter) c.829_830insGATCCAGTGAAGCCA (p.Phe277Ter) c.1684_1685insGATCCAGTGAAGCCA (p.Phe562Ter) c.1498_1499insGATCCAGTGAAGCCA (p.Phe500Ter) c.1417_1418insGATCCAGTGAAGCCA (p.Phe473Ter) c.1123_1124insGATCCAGTGAAGCCA (p.Phe375Ter) c.1504_1505insGATCCAGTGAAGCCA (p.Phe502Ter) | |
2 | g.48688038A>C | CA346744693 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1759T>G (p.Phe587Val) c.*71T>G (n.*71T>G) c.3441+16358A>C (n.3441+16358A>C) c.*503T>G (n.*503T>G) c.1678T>G (p.Phe560Val) c.276+16358A>C (n.276+16358A>C) c.*220+6186T>G (n.*220+6186T>G) c.802T>G (p.Phe268Val) c.829T>G (p.Phe277Val) c.1684T>G (p.Phe562Val) c.1498T>G (p.Phe500Val) c.1417T>G (p.Phe473Val) c.1123T>G (p.Phe375Val) c.1504T>G (p.Phe502Val) | |
2 | g.48688038A>G | CA346744695 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1759T>C (p.Phe587Leu) c.*71T>C (n.*71T>C) c.3441+16358A>G (n.3441+16358A>G) c.*503T>C (n.*503T>C) c.1678T>C (p.Phe560Leu) c.276+16358A>G (n.276+16358A>G) c.*220+6186T>C (n.*220+6186T>C) c.802T>C (p.Phe268Leu) c.829T>C (p.Phe277Leu) c.1684T>C (p.Phe562Leu) c.1498T>C (p.Phe500Leu) c.1417T>C (p.Phe473Leu) c.1123T>C (p.Phe375Leu) c.1504T>C (p.Phe502Leu) | |
2 | g.48688038A>T | CA346744691 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1759T>A (p.Phe587Ile) c.*71T>A (n.*71T>A) c.3441+16358A>T (n.3441+16358A>T) c.*503T>A (n.*503T>A) c.1678T>A (p.Phe560Ile) c.276+16358A>T (n.276+16358A>T) c.*220+6186T>A (n.*220+6186T>A) c.802T>A (p.Phe268Ile) c.829T>A (p.Phe277Ile) c.1684T>A (p.Phe562Ile) c.1498T>A (p.Phe500Ile) c.1417T>A (p.Phe473Ile) c.1123T>A (p.Phe375Ile) c.1504T>A (p.Phe502Ile) | |
2 | g.48688039A= | CA1248600958 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1758T= (p.Ser586=) c.*70T= (n.*70T=) c.3441+16359A= (n.3441+16359A=) c.*502T= (n.*502T=) c.1677T= (p.Ser559=) c.276+16359A= (n.276+16359A=) c.*220+6185T= (n.*220+6185T=) c.801T= (p.Ser267=) c.828T= (p.Ser276=) c.1683T= (p.Ser561=) c.1497T= (p.Ser499=) c.1416T= (p.Ser472=) c.1122T= (p.Ser374=) c.1503T= (p.Ser501=) | |
2 | g.48688039A>C | CA426124911 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1758T>G (p.Ser586=) c.*70T>G (n.*70T>G) c.3441+16359A>C (n.3441+16359A>C) c.*502T>G (n.*502T>G) c.1677T>G (p.Ser559=) c.276+16359A>C (n.276+16359A>C) c.*220+6185T>G (n.*220+6185T>G) c.801T>G (p.Ser267=) c.828T>G (p.Ser276=) c.1683T>G (p.Ser561=) c.1497T>G (p.Ser499=) c.1416T>G (p.Ser472=) c.1122T>G (p.Ser374=) c.1503T>G (p.Ser501=) | |
2 | g.48688039A>G | CA426124912 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1758T>C (p.Ser586=) c.*70T>C (n.*70T>C) c.3441+16359A>G (n.3441+16359A>G) c.*502T>C (n.*502T>C) c.1677T>C (p.Ser559=) c.276+16359A>G (n.276+16359A>G) c.*220+6185T>C (n.*220+6185T>C) c.801T>C (p.Ser267=) c.828T>C (p.Ser276=) c.1683T>C (p.Ser561=) c.1497T>C (p.Ser499=) c.1416T>C (p.Ser472=) c.1122T>C (p.Ser374=) c.1503T>C (p.Ser501=) | |
2 | g.48688039A>T | CA426124913 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1758T>A (p.Ser586=) c.*70T>A (n.*70T>A) c.3441+16359A>T (n.3441+16359A>T) c.*502T>A (n.*502T>A) c.1677T>A (p.Ser559=) c.276+16359A>T (n.276+16359A>T) c.*220+6185T>A (n.*220+6185T>A) c.801T>A (p.Ser267=) c.828T>A (p.Ser276=) c.1683T>A (p.Ser561=) c.1497T>A (p.Ser499=) c.1416T>A (p.Ser472=) c.1122T>A (p.Ser374=) c.1503T>A (p.Ser501=) | dbSNP |
2 | g.48688042_48688043del | CA2586969302 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1757_1758del (p.Ser586PhefsTer19) c.*69_*70del (n.*69_*70del) c.3441+16362_3441+16363del (n.3441+16362_3441+16363del) c.*501_*502del (n.*501_*502del) c.1676_1677del (p.Ser559PhefsTer19) c.276+16362_276+16363del (n.276+16362_276+16363del) c.*220+6184_*220+6185del (n.*220+6184_*220+6185del) c.800_801del (p.Ser267PhefsTer19) c.827_828del (p.Ser276PhefsTer19) c.1682_1683del (p.Ser561PhefsTer19) c.1496_1497del (p.Ser499PhefsTer19) c.1415_1416del (p.Ser472PhefsTer19) c.1121_1122del (p.Ser374PhefsTer19) c.1502_1503del (p.Ser501PhefsTer19) | |
2 | g.48688040G>A | CA346744700 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1757C>T (p.Ser586Phe) c.*69C>T (n.*69C>T) c.3441+16360G>A (n.3441+16360G>A) c.*501C>T (n.*501C>T) c.1676C>T (p.Ser559Phe) c.276+16360G>A (n.276+16360G>A) c.*220+6184C>T (n.*220+6184C>T) c.800C>T (p.Ser267Phe) c.827C>T (p.Ser276Phe) c.1682C>T (p.Ser561Phe) c.1496C>T (p.Ser499Phe) c.1415C>T (p.Ser472Phe) c.1121C>T (p.Ser374Phe) c.1502C>T (p.Ser501Phe) | COSMIC |
2 | g.48688040G>C | CA346744710 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1757C>G (p.Ser586Cys) c.*69C>G (n.*69C>G) c.3441+16360G>C (n.3441+16360G>C) c.*501C>G (n.*501C>G) c.1676C>G (p.Ser559Cys) c.276+16360G>C (n.276+16360G>C) c.*220+6184C>G (n.*220+6184C>G) c.800C>G (p.Ser267Cys) c.827C>G (p.Ser276Cys) c.1682C>G (p.Ser561Cys) c.1496C>G (p.Ser499Cys) c.1415C>G (p.Ser472Cys) c.1121C>G (p.Ser374Cys) c.1502C>G (p.Ser501Cys) | dbSNP |
2 | g.48688040G= | CA1248600959 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1757C= (p.Ser586=) c.*69C= (n.*69C=) c.3441+16360G= (n.3441+16360G=) c.*501C= (n.*501C=) c.1676C= (p.Ser559=) c.276+16360G= (n.276+16360G=) c.*220+6184C= (n.*220+6184C=) c.800C= (p.Ser267=) c.827C= (p.Ser276=) c.1682C= (p.Ser561=) c.1496C= (p.Ser499=) c.1415C= (p.Ser472=) c.1121C= (p.Ser374=) c.1502C= (p.Ser501=) | |
2 | g.48688040G>T | CA346744714 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1757C>A (p.Ser586Tyr) c.*69C>A (n.*69C>A) c.3441+16360G>T (n.3441+16360G>T) c.*501C>A (n.*501C>A) c.1676C>A (p.Ser559Tyr) c.276+16360G>T (n.276+16360G>T) c.*220+6184C>A (n.*220+6184C>A) c.800C>A (p.Ser267Tyr) c.827C>A (p.Ser276Tyr) c.1682C>A (p.Ser561Tyr) c.1496C>A (p.Ser499Tyr) c.1415C>A (p.Ser472Tyr) c.1121C>A (p.Ser374Tyr) c.1502C>A (p.Ser501Tyr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688041A>C | CA346744717 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1756T>G (p.Ser586Ala) c.*68T>G (n.*68T>G) c.3441+16361A>C (n.3441+16361A>C) c.*500T>G (n.*500T>G) c.1675T>G (p.Ser559Ala) c.276+16361A>C (n.276+16361A>C) c.*220+6183T>G (n.*220+6183T>G) c.799T>G (p.Ser267Ala) c.826T>G (p.Ser276Ala) c.1681T>G (p.Ser561Ala) c.1495T>G (p.Ser499Ala) c.1414T>G (p.Ser472Ala) c.1120T>G (p.Ser374Ala) c.1501T>G (p.Ser501Ala) | |
2 | g.48688041A>G | CA346744721 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1756T>C (p.Ser586Pro) c.*68T>C (n.*68T>C) c.3441+16361A>G (n.3441+16361A>G) c.*500T>C (n.*500T>C) c.1675T>C (p.Ser559Pro) c.276+16361A>G (n.276+16361A>G) c.*220+6183T>C (n.*220+6183T>C) c.799T>C (p.Ser267Pro) c.826T>C (p.Ser276Pro) c.1681T>C (p.Ser561Pro) c.1495T>C (p.Ser499Pro) c.1414T>C (p.Ser472Pro) c.1120T>C (p.Ser374Pro) c.1501T>C (p.Ser501Pro) | |
2 | g.48688041A>T | CA346744727 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1756T>A (p.Ser586Thr) c.*68T>A (n.*68T>A) c.3441+16361A>T (n.3441+16361A>T) c.*500T>A (n.*500T>A) c.1675T>A (p.Ser559Thr) c.276+16361A>T (n.276+16361A>T) c.*220+6183T>A (n.*220+6183T>A) c.799T>A (p.Ser267Thr) c.826T>A (p.Ser276Thr) c.1681T>A (p.Ser561Thr) c.1495T>A (p.Ser499Thr) c.1414T>A (p.Ser472Thr) c.1120T>A (p.Ser374Thr) c.1501T>A (p.Ser501Thr) | |
2 | g.48688043_48688046del | CA2586969303 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1753_1756del (p.Ile585LeufsTer16) c.*65_*68del (n.*65_*68del) c.3441+16363_3441+16366del (n.3441+16363_3441+16366del) c.*497_*500del (n.*497_*500del) c.1672_1675del (p.Ile558LeufsTer16) c.276+16363_276+16366del (n.276+16363_276+16366del) c.*220+6180_*220+6183del (n.*220+6180_*220+6183del) c.796_799del (p.Ile266LeufsTer16) c.823_826del (p.Ile275LeufsTer16) c.1678_1681del (p.Ile560LeufsTer16) c.1492_1495del (p.Ile498LeufsTer16) c.1411_1414del (p.Ile471LeufsTer16) c.1117_1120del (p.Ile373LeufsTer16) c.1498_1501del (p.Ile500LeufsTer16) | gnomAD v4 |
2 | g.48688042G>A | CA426124914 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1755C>T (p.Ile585=) c.*67C>T (n.*67C>T) c.3441+16362G>A (n.3441+16362G>A) c.*499C>T (n.*499C>T) c.1674C>T (p.Ile558=) c.276+16362G>A (n.276+16362G>A) c.*220+6182C>T (n.*220+6182C>T) c.798C>T (p.Ile266=) c.825C>T (p.Ile275=) c.1680C>T (p.Ile560=) c.1494C>T (p.Ile498=) c.1413C>T (p.Ile471=) c.1119C>T (p.Ile373=) c.1500C>T (p.Ile500=) | |
2 | g.48688042G>C | CA46752775 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1755C>G (p.Ile585Met) c.*67C>G (n.*67C>G) c.3441+16362G>C (n.3441+16362G>C) c.*499C>G (n.*499C>G) c.1674C>G (p.Ile558Met) c.276+16362G>C (n.276+16362G>C) c.*220+6182C>G (n.*220+6182C>G) c.798C>G (p.Ile266Met) c.825C>G (p.Ile275Met) c.1680C>G (p.Ile560Met) c.1494C>G (p.Ile498Met) c.1413C>G (p.Ile471Met) c.1119C>G (p.Ile373Met) c.1500C>G (p.Ile500Met) | dbSNP gnomAD v4 |
2 | g.48688042G= | CA1248600960 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1755C= (p.Ile585=) c.*67C= (n.*67C=) c.3441+16362G= (n.3441+16362G=) c.*499C= (n.*499C=) c.1674C= (p.Ile558=) c.276+16362G= (n.276+16362G=) c.*220+6182C= (n.*220+6182C=) c.798C= (p.Ile266=) c.825C= (p.Ile275=) c.1680C= (p.Ile560=) c.1494C= (p.Ile498=) c.1413C= (p.Ile471=) c.1119C= (p.Ile373=) c.1500C= (p.Ile500=) | |
2 | g.48688042G>T | CA426124915 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1755C>A (p.Ile585=) c.*67C>A (n.*67C>A) c.3441+16362G>T (n.3441+16362G>T) c.*499C>A (n.*499C>A) c.1674C>A (p.Ile558=) c.276+16362G>T (n.276+16362G>T) c.*220+6182C>A (n.*220+6182C>A) c.798C>A (p.Ile266=) c.825C>A (p.Ile275=) c.1680C>A (p.Ile560=) c.1494C>A (p.Ile498=) c.1413C>A (p.Ile471=) c.1119C>A (p.Ile373=) c.1500C>A (p.Ile500=) | |
2 | g.48688043A= | CA1248600961 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1754T= (p.Ile585=) c.*66T= (n.*66T=) c.3441+16363A= (n.3441+16363A=) c.*498T= (n.*498T=) c.1673T= (p.Ile558=) c.276+16363A= (n.276+16363A=) c.*220+6181T= (n.*220+6181T=) c.797T= (p.Ile266=) c.824T= (p.Ile275=) c.1679T= (p.Ile560=) c.1493T= (p.Ile498=) c.1412T= (p.Ile471=) c.1118T= (p.Ile373=) c.1499T= (p.Ile500=) | |
2 | g.48688043A>C | CA346744732 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1754T>G (p.Ile585Ser) c.*66T>G (n.*66T>G) c.3441+16363A>C (n.3441+16363A>C) c.*498T>G (n.*498T>G) c.1673T>G (p.Ile558Ser) c.276+16363A>C (n.276+16363A>C) c.*220+6181T>G (n.*220+6181T>G) c.797T>G (p.Ile266Ser) c.824T>G (p.Ile275Ser) c.1679T>G (p.Ile560Ser) c.1493T>G (p.Ile498Ser) c.1412T>G (p.Ile471Ser) c.1118T>G (p.Ile373Ser) c.1499T>G (p.Ile500Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688043A>G | CA346744740 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1754T>C (p.Ile585Thr) c.*66T>C (n.*66T>C) c.3441+16363A>G (n.3441+16363A>G) c.*498T>C (n.*498T>C) c.1673T>C (p.Ile558Thr) c.276+16363A>G (n.276+16363A>G) c.*220+6181T>C (n.*220+6181T>C) c.797T>C (p.Ile266Thr) c.824T>C (p.Ile275Thr) c.1679T>C (p.Ile560Thr) c.1493T>C (p.Ile498Thr) c.1412T>C (p.Ile471Thr) c.1118T>C (p.Ile373Thr) c.1499T>C (p.Ile500Thr) | |
2 | g.48688043A>T | CA346744734 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1754T>A (p.Ile585Asn) c.*66T>A (n.*66T>A) c.3441+16363A>T (n.3441+16363A>T) c.*498T>A (n.*498T>A) c.1673T>A (p.Ile558Asn) c.276+16363A>T (n.276+16363A>T) c.*220+6181T>A (n.*220+6181T>A) c.797T>A (p.Ile266Asn) c.824T>A (p.Ile275Asn) c.1679T>A (p.Ile560Asn) c.1493T>A (p.Ile498Asn) c.1412T>A (p.Ile471Asn) c.1118T>A (p.Ile373Asn) c.1499T>A (p.Ile500Asn) | |
2 | g.48688044T>A | CA1652994 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1753A>T (p.Ile585Phe) c.*65A>T (n.*65A>T) c.3441+16364T>A (n.3441+16364T>A) c.*497A>T (n.*497A>T) c.1672A>T (p.Ile558Phe) c.276+16364T>A (n.276+16364T>A) c.*220+6180A>T (n.*220+6180A>T) c.796A>T (p.Ile266Phe) c.823A>T (p.Ile275Phe) c.1678A>T (p.Ile560Phe) c.1492A>T (p.Ile498Phe) c.1411A>T (p.Ile471Phe) c.1117A>T (p.Ile373Phe) c.1498A>T (p.Ile500Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688044T>C | CA346744743 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1753A>G (p.Ile585Val) c.*65A>G (n.*65A>G) c.3441+16364T>C (n.3441+16364T>C) c.*497A>G (n.*497A>G) c.1672A>G (p.Ile558Val) c.276+16364T>C (n.276+16364T>C) c.*220+6180A>G (n.*220+6180A>G) c.796A>G (p.Ile266Val) c.823A>G (p.Ile275Val) c.1678A>G (p.Ile560Val) c.1492A>G (p.Ile498Val) c.1411A>G (p.Ile471Val) c.1117A>G (p.Ile373Val) c.1498A>G (p.Ile500Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688044T>G | CA346744753 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1753A>C (p.Ile585Leu) c.*65A>C (n.*65A>C) c.3441+16364T>G (n.3441+16364T>G) c.*497A>C (n.*497A>C) c.1672A>C (p.Ile558Leu) c.276+16364T>G (n.276+16364T>G) c.*220+6180A>C (n.*220+6180A>C) c.796A>C (p.Ile266Leu) c.823A>C (p.Ile275Leu) c.1678A>C (p.Ile560Leu) c.1492A>C (p.Ile498Leu) c.1411A>C (p.Ile471Leu) c.1117A>C (p.Ile373Leu) c.1498A>C (p.Ile500Leu) | gnomAD v4 |
2 | g.48688044T= | CA1248600962 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1753A= (p.Ile585=) c.*65A= (n.*65A=) c.3441+16364T= (n.3441+16364T=) c.*497A= (n.*497A=) c.1672A= (p.Ile558=) c.276+16364T= (n.276+16364T=) c.*220+6180A= (n.*220+6180A=) c.796A= (p.Ile266=) c.823A= (p.Ile275=) c.1678A= (p.Ile560=) c.1492A= (p.Ile498=) c.1411A= (p.Ile471=) c.1117A= (p.Ile373=) c.1498A= (p.Ile500=) | |
2 | g.48688045A= | CA1248600963 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1752T= (p.Pro584=) c.*64T= (n.*64T=) c.3441+16365A= (n.3441+16365A=) c.*496T= (n.*496T=) c.1671T= (p.Pro557=) c.276+16365A= (n.276+16365A=) c.*220+6179T= (n.*220+6179T=) c.795T= (p.Pro265=) c.822T= (p.Pro274=) c.1677T= (p.Pro559=) c.1491T= (p.Pro497=) c.1410T= (p.Pro470=) c.1116T= (p.Pro372=) c.1497T= (p.Pro499=) | |
2 | g.48688045A>C | CA426124917 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1752T>G (p.Pro584=) c.*64T>G (n.*64T>G) c.3441+16365A>C (n.3441+16365A>C) c.*496T>G (n.*496T>G) c.1671T>G (p.Pro557=) c.276+16365A>C (n.276+16365A>C) c.*220+6179T>G (n.*220+6179T>G) c.795T>G (p.Pro265=) c.822T>G (p.Pro274=) c.1677T>G (p.Pro559=) c.1491T>G (p.Pro497=) c.1410T>G (p.Pro470=) c.1116T>G (p.Pro372=) c.1497T>G (p.Pro499=) | |
2 | g.48688045A>G | CA1652995 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1752T>C (p.Pro584=) c.*64T>C (n.*64T>C) c.3441+16365A>G (n.3441+16365A>G) c.*496T>C (n.*496T>C) c.1671T>C (p.Pro557=) c.276+16365A>G (n.276+16365A>G) c.*220+6179T>C (n.*220+6179T>C) c.795T>C (p.Pro265=) c.822T>C (p.Pro274=) c.1677T>C (p.Pro559=) c.1491T>C (p.Pro497=) c.1410T>C (p.Pro470=) c.1116T>C (p.Pro372=) c.1497T>C (p.Pro499=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688045A>T | CA426124916 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1752T>A (p.Pro584=) c.*64T>A (n.*64T>A) c.3441+16365A>T (n.3441+16365A>T) c.*496T>A (n.*496T>A) c.1671T>A (p.Pro557=) c.276+16365A>T (n.276+16365A>T) c.*220+6179T>A (n.*220+6179T>A) c.795T>A (p.Pro265=) c.822T>A (p.Pro274=) c.1677T>A (p.Pro559=) c.1491T>A (p.Pro497=) c.1410T>A (p.Pro470=) c.1116T>A (p.Pro372=) c.1497T>A (p.Pro499=) | |
2 | g.48688046G>A | CA346744756 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1751C>T (p.Pro584Leu) c.*63C>T (n.*63C>T) c.3441+16366G>A (n.3441+16366G>A) c.*495C>T (n.*495C>T) c.1670C>T (p.Pro557Leu) c.276+16366G>A (n.276+16366G>A) c.*220+6178C>T (n.*220+6178C>T) c.794C>T (p.Pro265Leu) c.821C>T (p.Pro274Leu) c.1676C>T (p.Pro559Leu) c.1490C>T (p.Pro497Leu) c.1409C>T (p.Pro470Leu) c.1115C>T (p.Pro372Leu) c.1496C>T (p.Pro499Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688046G>C | CA346744758 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1751C>G (p.Pro584Arg) c.*63C>G (n.*63C>G) c.3441+16366G>C (n.3441+16366G>C) c.*495C>G (n.*495C>G) c.1670C>G (p.Pro557Arg) c.276+16366G>C (n.276+16366G>C) c.*220+6178C>G (n.*220+6178C>G) c.794C>G (p.Pro265Arg) c.821C>G (p.Pro274Arg) c.1676C>G (p.Pro559Arg) c.1490C>G (p.Pro497Arg) c.1409C>G (p.Pro470Arg) c.1115C>G (p.Pro372Arg) c.1496C>G (p.Pro499Arg) | |
2 | g.48688046G= | CA1248600964 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1751C= (p.Pro584=) c.*63C= (n.*63C=) c.3441+16366G= (n.3441+16366G=) c.*495C= (n.*495C=) c.1670C= (p.Pro557=) c.276+16366G= (n.276+16366G=) c.*220+6178C= (n.*220+6178C=) c.794C= (p.Pro265=) c.821C= (p.Pro274=) c.1676C= (p.Pro559=) c.1490C= (p.Pro497=) c.1409C= (p.Pro470=) c.1115C= (p.Pro372=) c.1496C= (p.Pro499=) | |
2 | g.48688046G>T | CA346744757 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1751C>A (p.Pro584His) c.*63C>A (n.*63C>A) c.3441+16366G>T (n.3441+16366G>T) c.*495C>A (n.*495C>A) c.1670C>A (p.Pro557His) c.276+16366G>T (n.276+16366G>T) c.*220+6178C>A (n.*220+6178C>A) c.794C>A (p.Pro265His) c.821C>A (p.Pro274His) c.1676C>A (p.Pro559His) c.1490C>A (p.Pro497His) c.1409C>A (p.Pro470His) c.1115C>A (p.Pro372His) c.1496C>A (p.Pro499His) |