Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.48687813_48687821del | CA2845004310 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1978_1986del (p.Thr660_Asn662del) c.*290_*298del (n.*290_*298del) c.3441+16133_3441+16141del (n.3441+16133_3441+16141del) c.*722_*730del (n.*722_*730del) c.1897_1905del (p.Thr633_Asn635del) c.276+16133_276+16141del (n.276+16133_276+16141del) c.*220+6405_*220+6413del (n.*220+6405_*220+6413del) c.1021_1029del (p.Thr341_Asn343del) c.1048_1056del (p.Thr350_Asn352del) c.1903_1911del (p.Thr635_Asn637del) c.1717_1725del (p.Thr573_Asn575del) c.1636_1644del (p.Thr546_Asn548del) c.1342_1350del (p.Thr448_Asn450del) c.1723_1731del (p.Thr575_Asn577del) | |
2 | g.48687814G>A | CA426125091 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1983C>T (p.Ser661=) c.*295C>T (n.*295C>T) c.3441+16134G>A (n.3441+16134G>A) c.*727C>T (n.*727C>T) c.1902C>T (p.Ser634=) c.276+16134G>A (n.276+16134G>A) c.*220+6410C>T (n.*220+6410C>T) c.1026C>T (p.Ser342=) c.1053C>T (p.Ser351=) c.1908C>T (p.Ser636=) c.1722C>T (p.Ser574=) c.1641C>T (p.Ser547=) c.1347C>T (p.Ser449=) c.1728C>T (p.Ser576=) | |
2 | g.48687814G>C | CA426125092 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1983C>G (p.Ser661=) c.*295C>G (n.*295C>G) c.3441+16134G>C (n.3441+16134G>C) c.*727C>G (n.*727C>G) c.1902C>G (p.Ser634=) c.276+16134G>C (n.276+16134G>C) c.*220+6410C>G (n.*220+6410C>G) c.1026C>G (p.Ser342=) c.1053C>G (p.Ser351=) c.1908C>G (p.Ser636=) c.1722C>G (p.Ser574=) c.1641C>G (p.Ser547=) c.1347C>G (p.Ser449=) c.1728C>G (p.Ser576=) | |
2 | g.48687814G>T | CA426125093 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1983C>A (p.Ser661=) c.*295C>A (n.*295C>A) c.3441+16134G>T (n.3441+16134G>T) c.*727C>A (n.*727C>A) c.1902C>A (p.Ser634=) c.276+16134G>T (n.276+16134G>T) c.*220+6410C>A (n.*220+6410C>A) c.1026C>A (p.Ser342=) c.1053C>A (p.Ser351=) c.1908C>A (p.Ser636=) c.1722C>A (p.Ser574=) c.1641C>A (p.Ser547=) c.1347C>A (p.Ser449=) c.1728C>A (p.Ser576=) | |
2 | g.48687815G>A | CA346743413 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1982C>T (p.Ser661Phe) c.*294C>T (n.*294C>T) c.3441+16135G>A (n.3441+16135G>A) c.*726C>T (n.*726C>T) c.1901C>T (p.Ser634Phe) c.276+16135G>A (n.276+16135G>A) c.*220+6409C>T (n.*220+6409C>T) c.1025C>T (p.Ser342Phe) c.1052C>T (p.Ser351Phe) c.1907C>T (p.Ser636Phe) c.1721C>T (p.Ser574Phe) c.1640C>T (p.Ser547Phe) c.1346C>T (p.Ser449Phe) c.1727C>T (p.Ser576Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687815G>C | CA46752500 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1982C>G (p.Ser661Cys) c.*294C>G (n.*294C>G) c.3441+16135G>C (n.3441+16135G>C) c.*726C>G (n.*726C>G) c.1901C>G (p.Ser634Cys) c.276+16135G>C (n.276+16135G>C) c.*220+6409C>G (n.*220+6409C>G) c.1025C>G (p.Ser342Cys) c.1052C>G (p.Ser351Cys) c.1907C>G (p.Ser636Cys) c.1721C>G (p.Ser574Cys) c.1640C>G (p.Ser547Cys) c.1346C>G (p.Ser449Cys) c.1727C>G (p.Ser576Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687815G= | CA1248600852 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1982C= (p.Ser661=) c.*294C= (n.*294C=) c.3441+16135G= (n.3441+16135G=) c.*726C= (n.*726C=) c.1901C= (p.Ser634=) c.276+16135G= (n.276+16135G=) c.*220+6409C= (n.*220+6409C=) c.1025C= (p.Ser342=) c.1052C= (p.Ser351=) c.1907C= (p.Ser636=) c.1721C= (p.Ser574=) c.1640C= (p.Ser547=) c.1346C= (p.Ser449=) c.1727C= (p.Ser576=) | |
2 | g.48687815G>T | CA346743415 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1982C>A (p.Ser661Tyr) c.*294C>A (n.*294C>A) c.3441+16135G>T (n.3441+16135G>T) c.*726C>A (n.*726C>A) c.1901C>A (p.Ser634Tyr) c.276+16135G>T (n.276+16135G>T) c.*220+6409C>A (n.*220+6409C>A) c.1025C>A (p.Ser342Tyr) c.1052C>A (p.Ser351Tyr) c.1907C>A (p.Ser636Tyr) c.1721C>A (p.Ser574Tyr) c.1640C>A (p.Ser547Tyr) c.1346C>A (p.Ser449Tyr) c.1727C>A (p.Ser576Tyr) | |
2 | g.48687816A= | CA1248600853 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1981T= (p.Ser661=) c.*293T= (n.*293T=) c.3441+16136A= (n.3441+16136A=) c.*725T= (n.*725T=) c.1900T= (p.Ser634=) c.276+16136A= (n.276+16136A=) c.*220+6408T= (n.*220+6408T=) c.1024T= (p.Ser342=) c.1051T= (p.Ser351=) c.1906T= (p.Ser636=) c.1720T= (p.Ser574=) c.1639T= (p.Ser547=) c.1345T= (p.Ser449=) c.1726T= (p.Ser576=) | |
2 | g.48687816A>C | CA346743417 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1981T>G (p.Ser661Ala) c.*293T>G (n.*293T>G) c.3441+16136A>C (n.3441+16136A>C) c.*725T>G (n.*725T>G) c.1900T>G (p.Ser634Ala) c.276+16136A>C (n.276+16136A>C) c.*220+6408T>G (n.*220+6408T>G) c.1024T>G (p.Ser342Ala) c.1051T>G (p.Ser351Ala) c.1906T>G (p.Ser636Ala) c.1720T>G (p.Ser574Ala) c.1639T>G (p.Ser547Ala) c.1345T>G (p.Ser449Ala) c.1726T>G (p.Ser576Ala) | |
2 | g.48687816A>G | CA46752503 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1981T>C (p.Ser661Pro) c.*293T>C (n.*293T>C) c.3441+16136A>G (n.3441+16136A>G) c.*725T>C (n.*725T>C) c.1900T>C (p.Ser634Pro) c.276+16136A>G (n.276+16136A>G) c.*220+6408T>C (n.*220+6408T>C) c.1024T>C (p.Ser342Pro) c.1051T>C (p.Ser351Pro) c.1906T>C (p.Ser636Pro) c.1720T>C (p.Ser574Pro) c.1639T>C (p.Ser547Pro) c.1345T>C (p.Ser449Pro) c.1726T>C (p.Ser576Pro) | dbSNP |
2 | g.48687816A>T | CA1652954 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1981T>A (p.Ser661Thr) c.*293T>A (n.*293T>A) c.3441+16136A>T (n.3441+16136A>T) c.*725T>A (n.*725T>A) c.1900T>A (p.Ser634Thr) c.276+16136A>T (n.276+16136A>T) c.*220+6408T>A (n.*220+6408T>A) c.1024T>A (p.Ser342Thr) c.1051T>A (p.Ser351Thr) c.1906T>A (p.Ser636Thr) c.1720T>A (p.Ser574Thr) c.1639T>A (p.Ser547Thr) c.1345T>A (p.Ser449Thr) c.1726T>A (p.Ser576Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687817G>A | CA426125100 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1980C>T (p.Thr660=) c.*292C>T (n.*292C>T) c.3441+16137G>A (n.3441+16137G>A) c.*724C>T (n.*724C>T) c.1899C>T (p.Thr633=) c.276+16137G>A (n.276+16137G>A) c.*220+6407C>T (n.*220+6407C>T) c.1023C>T (p.Thr341=) c.1050C>T (p.Thr350=) c.1905C>T (p.Thr635=) c.1719C>T (p.Thr573=) c.1638C>T (p.Thr546=) c.1344C>T (p.Thr448=) c.1725C>T (p.Thr575=) | gnomAD v4 COSMIC |
2 | g.48687817G>C | CA426125101 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1980C>G (p.Thr660=) c.*292C>G (n.*292C>G) c.3441+16137G>C (n.3441+16137G>C) c.*724C>G (n.*724C>G) c.1899C>G (p.Thr633=) c.276+16137G>C (n.276+16137G>C) c.*220+6407C>G (n.*220+6407C>G) c.1023C>G (p.Thr341=) c.1050C>G (p.Thr350=) c.1905C>G (p.Thr635=) c.1719C>G (p.Thr573=) c.1638C>G (p.Thr546=) c.1344C>G (p.Thr448=) c.1725C>G (p.Thr575=) | |
2 | g.48687817G>T | CA426125102 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1980C>A (p.Thr660=) c.*292C>A (n.*292C>A) c.3441+16137G>T (n.3441+16137G>T) c.*724C>A (n.*724C>A) c.1899C>A (p.Thr633=) c.276+16137G>T (n.276+16137G>T) c.*220+6407C>A (n.*220+6407C>A) c.1023C>A (p.Thr341=) c.1050C>A (p.Thr350=) c.1905C>A (p.Thr635=) c.1719C>A (p.Thr573=) c.1638C>A (p.Thr546=) c.1344C>A (p.Thr448=) c.1725C>A (p.Thr575=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687818G>A | CA346743426 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1979C>T (p.Thr660Ile) c.*291C>T (n.*291C>T) c.3441+16138G>A (n.3441+16138G>A) c.*723C>T (n.*723C>T) c.1898C>T (p.Thr633Ile) c.276+16138G>A (n.276+16138G>A) c.*220+6406C>T (n.*220+6406C>T) c.1022C>T (p.Thr341Ile) c.1049C>T (p.Thr350Ile) c.1904C>T (p.Thr635Ile) c.1718C>T (p.Thr573Ile) c.1637C>T (p.Thr546Ile) c.1343C>T (p.Thr448Ile) c.1724C>T (p.Thr575Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687818G>C | CA1652955 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1979C>G (p.Thr660Ser) c.*291C>G (n.*291C>G) c.3441+16138G>C (n.3441+16138G>C) c.*723C>G (n.*723C>G) c.1898C>G (p.Thr633Ser) c.276+16138G>C (n.276+16138G>C) c.*220+6406C>G (n.*220+6406C>G) c.1022C>G (p.Thr341Ser) c.1049C>G (p.Thr350Ser) c.1904C>G (p.Thr635Ser) c.1718C>G (p.Thr573Ser) c.1637C>G (p.Thr546Ser) c.1343C>G (p.Thr448Ser) c.1724C>G (p.Thr575Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687818G= | CA1248600854 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1979C= (p.Thr660=) c.*291C= (n.*291C=) c.3441+16138G= (n.3441+16138G=) c.*723C= (n.*723C=) c.1898C= (p.Thr633=) c.276+16138G= (n.276+16138G=) c.*220+6406C= (n.*220+6406C=) c.1022C= (p.Thr341=) c.1049C= (p.Thr350=) c.1904C= (p.Thr635=) c.1718C= (p.Thr573=) c.1637C= (p.Thr546=) c.1343C= (p.Thr448=) c.1724C= (p.Thr575=) | |
2 | g.48687818G>T | CA346743428 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1979C>A (p.Thr660Asn) c.*291C>A (n.*291C>A) c.3441+16138G>T (n.3441+16138G>T) c.*723C>A (n.*723C>A) c.1898C>A (p.Thr633Asn) c.276+16138G>T (n.276+16138G>T) c.*220+6406C>A (n.*220+6406C>A) c.1022C>A (p.Thr341Asn) c.1049C>A (p.Thr350Asn) c.1904C>A (p.Thr635Asn) c.1718C>A (p.Thr573Asn) c.1637C>A (p.Thr546Asn) c.1343C>A (p.Thr448Asn) c.1724C>A (p.Thr575Asn) | |
2 | g.48687819T>A | CA346743433 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1978A>T (p.Thr660Ser) c.*290A>T (n.*290A>T) c.3441+16139T>A (n.3441+16139T>A) c.*722A>T (n.*722A>T) c.1897A>T (p.Thr633Ser) c.276+16139T>A (n.276+16139T>A) c.*220+6405A>T (n.*220+6405A>T) c.1021A>T (p.Thr341Ser) c.1048A>T (p.Thr350Ser) c.1903A>T (p.Thr635Ser) c.1717A>T (p.Thr573Ser) c.1636A>T (p.Thr546Ser) c.1342A>T (p.Thr448Ser) c.1723A>T (p.Thr575Ser) | |
2 | g.48687819T>C | CA346743434 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1978A>G (p.Thr660Ala) c.*290A>G (n.*290A>G) c.3441+16139T>C (n.3441+16139T>C) c.*722A>G (n.*722A>G) c.1897A>G (p.Thr633Ala) c.276+16139T>C (n.276+16139T>C) c.*220+6405A>G (n.*220+6405A>G) c.1021A>G (p.Thr341Ala) c.1048A>G (p.Thr350Ala) c.1903A>G (p.Thr635Ala) c.1717A>G (p.Thr573Ala) c.1636A>G (p.Thr546Ala) c.1342A>G (p.Thr448Ala) c.1723A>G (p.Thr575Ala) | |
2 | g.48687819T>G | CA346743439 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1978A>C (p.Thr660Pro) c.*290A>C (n.*290A>C) c.3441+16139T>G (n.3441+16139T>G) c.*722A>C (n.*722A>C) c.1897A>C (p.Thr633Pro) c.276+16139T>G (n.276+16139T>G) c.*220+6405A>C (n.*220+6405A>C) c.1021A>C (p.Thr341Pro) c.1048A>C (p.Thr350Pro) c.1903A>C (p.Thr635Pro) c.1717A>C (p.Thr573Pro) c.1636A>C (p.Thr546Pro) c.1342A>C (p.Thr448Pro) c.1723A>C (p.Thr575Pro) | |
2 | g.48687820G>A | CA46752505 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1977C>T (p.Tyr659=) c.*289C>T (n.*289C>T) c.3441+16140G>A (n.3441+16140G>A) c.*721C>T (n.*721C>T) c.1896C>T (p.Tyr632=) c.276+16140G>A (n.276+16140G>A) c.*220+6404C>T (n.*220+6404C>T) c.1020C>T (p.Tyr340=) c.1047C>T (p.Tyr349=) c.1902C>T (p.Tyr634=) c.1716C>T (p.Tyr572=) c.1635C>T (p.Tyr545=) c.1341C>T (p.Tyr447=) c.1722C>T (p.Tyr574=) | dbSNP gnomAD v4 |
2 | g.48687820G>C | CA346743441 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1977C>G (p.Tyr659Ter) c.*289C>G (n.*289C>G) c.3441+16140G>C (n.3441+16140G>C) c.*721C>G (n.*721C>G) c.1896C>G (p.Tyr632Ter) c.276+16140G>C (n.276+16140G>C) c.*220+6404C>G (n.*220+6404C>G) c.1020C>G (p.Tyr340Ter) c.1047C>G (p.Tyr349Ter) c.1902C>G (p.Tyr634Ter) c.1716C>G (p.Tyr572Ter) c.1635C>G (p.Tyr545Ter) c.1341C>G (p.Tyr447Ter) c.1722C>G (p.Tyr574Ter) | |
2 | g.48687820G= | CA1248600855 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1977C= (p.Tyr659=) c.*289C= (n.*289C=) c.3441+16140G= (n.3441+16140G=) c.*721C= (n.*721C=) c.1896C= (p.Tyr632=) c.276+16140G= (n.276+16140G=) c.*220+6404C= (n.*220+6404C=) c.1020C= (p.Tyr340=) c.1047C= (p.Tyr349=) c.1902C= (p.Tyr634=) c.1716C= (p.Tyr572=) c.1635C= (p.Tyr545=) c.1341C= (p.Tyr447=) c.1722C= (p.Tyr574=) | |
2 | g.48687820G>T | CA346743448 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1977C>A (p.Tyr659Ter) c.*289C>A (n.*289C>A) c.3441+16140G>T (n.3441+16140G>T) c.*721C>A (n.*721C>A) c.1896C>A (p.Tyr632Ter) c.276+16140G>T (n.276+16140G>T) c.*220+6404C>A (n.*220+6404C>A) c.1020C>A (p.Tyr340Ter) c.1047C>A (p.Tyr349Ter) c.1902C>A (p.Tyr634Ter) c.1716C>A (p.Tyr572Ter) c.1635C>A (p.Tyr545Ter) c.1341C>A (p.Tyr447Ter) c.1722C>A (p.Tyr574Ter) | |
2 | g.48687821T>A | CA346743452 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1976A>T (p.Tyr659Phe) c.*288A>T (n.*288A>T) c.3441+16141T>A (n.3441+16141T>A) c.*720A>T (n.*720A>T) c.1895A>T (p.Tyr632Phe) c.276+16141T>A (n.276+16141T>A) c.*220+6403A>T (n.*220+6403A>T) c.1019A>T (p.Tyr340Phe) c.1046A>T (p.Tyr349Phe) c.1901A>T (p.Tyr634Phe) c.1715A>T (p.Tyr572Phe) c.1634A>T (p.Tyr545Phe) c.1340A>T (p.Tyr447Phe) c.1721A>T (p.Tyr574Phe) | |
2 | g.48687821T>C | CA346743453 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1976A>G (p.Tyr659Cys) c.*288A>G (n.*288A>G) c.3441+16141T>C (n.3441+16141T>C) c.*720A>G (n.*720A>G) c.1895A>G (p.Tyr632Cys) c.276+16141T>C (n.276+16141T>C) c.*220+6403A>G (n.*220+6403A>G) c.1019A>G (p.Tyr340Cys) c.1046A>G (p.Tyr349Cys) c.1901A>G (p.Tyr634Cys) c.1715A>G (p.Tyr572Cys) c.1634A>G (p.Tyr545Cys) c.1340A>G (p.Tyr447Cys) c.1721A>G (p.Tyr574Cys) | |
2 | g.48687821T>G | CA346743457 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1976A>C (p.Tyr659Ser) c.*288A>C (n.*288A>C) c.3441+16141T>G (n.3441+16141T>G) c.*720A>C (n.*720A>C) c.1895A>C (p.Tyr632Ser) c.276+16141T>G (n.276+16141T>G) c.*220+6403A>C (n.*220+6403A>C) c.1019A>C (p.Tyr340Ser) c.1046A>C (p.Tyr349Ser) c.1901A>C (p.Tyr634Ser) c.1715A>C (p.Tyr572Ser) c.1634A>C (p.Tyr545Ser) c.1340A>C (p.Tyr447Ser) c.1721A>C (p.Tyr574Ser) | |
2 | g.48687822A>C | CA346743460 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1975T>G (p.Tyr659Asp) c.*287T>G (n.*287T>G) c.3441+16142A>C (n.3441+16142A>C) c.*719T>G (n.*719T>G) c.1894T>G (p.Tyr632Asp) c.276+16142A>C (n.276+16142A>C) c.*220+6402T>G (n.*220+6402T>G) c.1018T>G (p.Tyr340Asp) c.1045T>G (p.Tyr349Asp) c.1900T>G (p.Tyr634Asp) c.1714T>G (p.Tyr572Asp) c.1633T>G (p.Tyr545Asp) c.1339T>G (p.Tyr447Asp) c.1720T>G (p.Tyr574Asp) | |
2 | g.48687822A>G | CA346743463 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1975T>C (p.Tyr659His) c.*287T>C (n.*287T>C) c.3441+16142A>G (n.3441+16142A>G) c.*719T>C (n.*719T>C) c.1894T>C (p.Tyr632His) c.276+16142A>G (n.276+16142A>G) c.*220+6402T>C (n.*220+6402T>C) c.1018T>C (p.Tyr340His) c.1045T>C (p.Tyr349His) c.1900T>C (p.Tyr634His) c.1714T>C (p.Tyr572His) c.1633T>C (p.Tyr545His) c.1339T>C (p.Tyr447His) c.1720T>C (p.Tyr574His) | COSMIC |
2 | g.48687822A>T | CA346743465 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1975T>A (p.Tyr659Asn) c.*287T>A (n.*287T>A) c.3441+16142A>T (n.3441+16142A>T) c.*719T>A (n.*719T>A) c.1894T>A (p.Tyr632Asn) c.276+16142A>T (n.276+16142A>T) c.*220+6402T>A (n.*220+6402T>A) c.1018T>A (p.Tyr340Asn) c.1045T>A (p.Tyr349Asn) c.1900T>A (p.Tyr634Asn) c.1714T>A (p.Tyr572Asn) c.1633T>A (p.Tyr545Asn) c.1339T>A (p.Tyr447Asn) c.1720T>A (p.Tyr574Asn) | |
2 | g.48687823A>C | CA426125110 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1974T>G (p.Ala658=) c.*286T>G (n.*286T>G) c.3441+16143A>C (n.3441+16143A>C) c.*718T>G (n.*718T>G) c.1893T>G (p.Ala631=) c.276+16143A>C (n.276+16143A>C) c.*220+6401T>G (n.*220+6401T>G) c.1017T>G (p.Ala339=) c.1044T>G (p.Ala348=) c.1899T>G (p.Ala633=) c.1713T>G (p.Ala571=) c.1632T>G (p.Ala544=) c.1338T>G (p.Ala446=) c.1719T>G (p.Ala573=) | |
2 | g.48687823A>G | CA426125111 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1974T>C (p.Ala658=) c.*286T>C (n.*286T>C) c.3441+16143A>G (n.3441+16143A>G) c.*718T>C (n.*718T>C) c.1893T>C (p.Ala631=) c.276+16143A>G (n.276+16143A>G) c.*220+6401T>C (n.*220+6401T>C) c.1017T>C (p.Ala339=) c.1044T>C (p.Ala348=) c.1899T>C (p.Ala633=) c.1713T>C (p.Ala571=) c.1632T>C (p.Ala544=) c.1338T>C (p.Ala446=) c.1719T>C (p.Ala573=) | |
2 | g.48687823A>T | CA426125112 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1974T>A (p.Ala658=) c.*286T>A (n.*286T>A) c.3441+16143A>T (n.3441+16143A>T) c.*718T>A (n.*718T>A) c.1893T>A (p.Ala631=) c.276+16143A>T (n.276+16143A>T) c.*220+6401T>A (n.*220+6401T>A) c.1017T>A (p.Ala339=) c.1044T>A (p.Ala348=) c.1899T>A (p.Ala633=) c.1713T>A (p.Ala571=) c.1632T>A (p.Ala544=) c.1338T>A (p.Ala446=) c.1719T>A (p.Ala573=) | |
2 | g.48687824G>A | CA346743468 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1973C>T (p.Ala658Val) c.*285C>T (n.*285C>T) c.3441+16144G>A (n.3441+16144G>A) c.*717C>T (n.*717C>T) c.1892C>T (p.Ala631Val) c.276+16144G>A (n.276+16144G>A) c.*220+6400C>T (n.*220+6400C>T) c.1016C>T (p.Ala339Val) c.1043C>T (p.Ala348Val) c.1898C>T (p.Ala633Val) c.1712C>T (p.Ala571Val) c.1631C>T (p.Ala544Val) c.1337C>T (p.Ala446Val) c.1718C>T (p.Ala573Val) | gnomAD v4 |
2 | g.48687824G>C | CA346743470 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1973C>G (p.Ala658Gly) c.*285C>G (n.*285C>G) c.3441+16144G>C (n.3441+16144G>C) c.*717C>G (n.*717C>G) c.1892C>G (p.Ala631Gly) c.276+16144G>C (n.276+16144G>C) c.*220+6400C>G (n.*220+6400C>G) c.1016C>G (p.Ala339Gly) c.1043C>G (p.Ala348Gly) c.1898C>G (p.Ala633Gly) c.1712C>G (p.Ala571Gly) c.1631C>G (p.Ala544Gly) c.1337C>G (p.Ala446Gly) c.1718C>G (p.Ala573Gly) | |
2 | g.48687824G>T | CA346743469 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1973C>A (p.Ala658Asp) c.*285C>A (n.*285C>A) c.3441+16144G>T (n.3441+16144G>T) c.*717C>A (n.*717C>A) c.1892C>A (p.Ala631Asp) c.276+16144G>T (n.276+16144G>T) c.*220+6400C>A (n.*220+6400C>A) c.1016C>A (p.Ala339Asp) c.1043C>A (p.Ala348Asp) c.1898C>A (p.Ala633Asp) c.1712C>A (p.Ala571Asp) c.1631C>A (p.Ala544Asp) c.1337C>A (p.Ala446Asp) c.1718C>A (p.Ala573Asp) | gnomAD v4 |
2 | g.48687825C>A | CA346743471 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1972G>T (p.Ala658Ser) c.*284G>T (n.*284G>T) c.3441+16145C>A (n.3441+16145C>A) c.*716G>T (n.*716G>T) c.1891G>T (p.Ala631Ser) c.276+16145C>A (n.276+16145C>A) c.*220+6399G>T (n.*220+6399G>T) c.1015G>T (p.Ala339Ser) c.1042G>T (p.Ala348Ser) c.1897G>T (p.Ala633Ser) c.1711G>T (p.Ala571Ser) c.1630G>T (p.Ala544Ser) c.1336G>T (p.Ala446Ser) c.1717G>T (p.Ala573Ser) | gnomAD v4 |
2 | g.48687825C>G | CA346743472 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1972G>C (p.Ala658Pro) c.*284G>C (n.*284G>C) c.3441+16145C>G (n.3441+16145C>G) c.*716G>C (n.*716G>C) c.1891G>C (p.Ala631Pro) c.276+16145C>G (n.276+16145C>G) c.*220+6399G>C (n.*220+6399G>C) c.1015G>C (p.Ala339Pro) c.1042G>C (p.Ala348Pro) c.1897G>C (p.Ala633Pro) c.1711G>C (p.Ala571Pro) c.1630G>C (p.Ala544Pro) c.1336G>C (p.Ala446Pro) c.1717G>C (p.Ala573Pro) | |
2 | g.48687825C>T | CA346743473 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1972G>A (p.Ala658Thr) c.*284G>A (n.*284G>A) c.3441+16145C>T (n.3441+16145C>T) c.*716G>A (n.*716G>A) c.1891G>A (p.Ala631Thr) c.276+16145C>T (n.276+16145C>T) c.*220+6399G>A (n.*220+6399G>A) c.1015G>A (p.Ala339Thr) c.1042G>A (p.Ala348Thr) c.1897G>A (p.Ala633Thr) c.1711G>A (p.Ala571Thr) c.1630G>A (p.Ala544Thr) c.1336G>A (p.Ala446Thr) c.1717G>A (p.Ala573Thr) | |
2 | g.48687826T>A | CA426125118 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1971A>T (p.Ser657=) c.*283A>T (n.*283A>T) c.3441+16146T>A (n.3441+16146T>A) c.*715A>T (n.*715A>T) c.1890A>T (p.Ser630=) c.276+16146T>A (n.276+16146T>A) c.*220+6398A>T (n.*220+6398A>T) c.1014A>T (p.Ser338=) c.1041A>T (p.Ser347=) c.1896A>T (p.Ser632=) c.1710A>T (p.Ser570=) c.1629A>T (p.Ser543=) c.1335A>T (p.Ser445=) c.1716A>T (p.Ser572=) | |
2 | g.48687826T>C | CA1652956 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1971A>G (p.Ser657=) c.*283A>G (n.*283A>G) c.3441+16146T>C (n.3441+16146T>C) c.*715A>G (n.*715A>G) c.1890A>G (p.Ser630=) c.276+16146T>C (n.276+16146T>C) c.*220+6398A>G (n.*220+6398A>G) c.1014A>G (p.Ser338=) c.1041A>G (p.Ser347=) c.1896A>G (p.Ser632=) c.1710A>G (p.Ser570=) c.1629A>G (p.Ser543=) c.1335A>G (p.Ser445=) c.1716A>G (p.Ser572=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687826T>G | CA426125119 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1971A>C (p.Ser657=) c.*283A>C (n.*283A>C) c.3441+16146T>G (n.3441+16146T>G) c.*715A>C (n.*715A>C) c.1890A>C (p.Ser630=) c.276+16146T>G (n.276+16146T>G) c.*220+6398A>C (n.*220+6398A>C) c.1014A>C (p.Ser338=) c.1041A>C (p.Ser347=) c.1896A>C (p.Ser632=) c.1710A>C (p.Ser570=) c.1629A>C (p.Ser543=) c.1335A>C (p.Ser445=) c.1716A>C (p.Ser572=) | |
2 | g.48687826T= | CA1248600856 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1971A= (p.Ser657=) c.*283A= (n.*283A=) c.3441+16146T= (n.3441+16146T=) c.*715A= (n.*715A=) c.1890A= (p.Ser630=) c.276+16146T= (n.276+16146T=) c.*220+6398A= (n.*220+6398A=) c.1014A= (p.Ser338=) c.1041A= (p.Ser347=) c.1896A= (p.Ser632=) c.1710A= (p.Ser570=) c.1629A= (p.Ser543=) c.1335A= (p.Ser445=) c.1716A= (p.Ser572=) | |
2 | g.48687827G>A | CA346743476 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1970C>T (p.Ser657Leu) c.*282C>T (n.*282C>T) c.3441+16147G>A (n.3441+16147G>A) c.*714C>T (n.*714C>T) c.1889C>T (p.Ser630Leu) c.276+16147G>A (n.276+16147G>A) c.*220+6397C>T (n.*220+6397C>T) c.1013C>T (p.Ser338Leu) c.1040C>T (p.Ser347Leu) c.1895C>T (p.Ser632Leu) c.1709C>T (p.Ser570Leu) c.1628C>T (p.Ser543Leu) c.1334C>T (p.Ser445Leu) c.1715C>T (p.Ser572Leu) | |
2 | g.48687827G>C | CA346743478 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1970C>G (p.Ser657Ter) c.*282C>G (n.*282C>G) c.3441+16147G>C (n.3441+16147G>C) c.*714C>G (n.*714C>G) c.1889C>G (p.Ser630Ter) c.276+16147G>C (n.276+16147G>C) c.*220+6397C>G (n.*220+6397C>G) c.1013C>G (p.Ser338Ter) c.1040C>G (p.Ser347Ter) c.1895C>G (p.Ser632Ter) c.1709C>G (p.Ser570Ter) c.1628C>G (p.Ser543Ter) c.1334C>G (p.Ser445Ter) c.1715C>G (p.Ser572Ter) | |
2 | g.48687827G>T | CA346743479 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1970C>A (p.Ser657Ter) c.*282C>A (n.*282C>A) c.3441+16147G>T (n.3441+16147G>T) c.*714C>A (n.*714C>A) c.1889C>A (p.Ser630Ter) c.276+16147G>T (n.276+16147G>T) c.*220+6397C>A (n.*220+6397C>A) c.1013C>A (p.Ser338Ter) c.1040C>A (p.Ser347Ter) c.1895C>A (p.Ser632Ter) c.1709C>A (p.Ser570Ter) c.1628C>A (p.Ser543Ter) c.1334C>A (p.Ser445Ter) c.1715C>A (p.Ser572Ter) | |
2 | g.48687828A= | CA1248600857 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1969T= (p.Ser657=) c.*281T= (n.*281T=) c.3441+16148A= (n.3441+16148A=) c.*713T= (n.*713T=) c.1888T= (p.Ser630=) c.276+16148A= (n.276+16148A=) c.*220+6396T= (n.*220+6396T=) c.1012T= (p.Ser338=) c.1039T= (p.Ser347=) c.1894T= (p.Ser632=) c.1708T= (p.Ser570=) c.1627T= (p.Ser543=) c.1333T= (p.Ser445=) c.1714T= (p.Ser572=) | |
2 | g.48687828A>C | CA346743482 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1969T>G (p.Ser657Ala) c.*281T>G (n.*281T>G) c.3441+16148A>C (n.3441+16148A>C) c.*713T>G (n.*713T>G) c.1888T>G (p.Ser630Ala) c.276+16148A>C (n.276+16148A>C) c.*220+6396T>G (n.*220+6396T>G) c.1012T>G (p.Ser338Ala) c.1039T>G (p.Ser347Ala) c.1894T>G (p.Ser632Ala) c.1708T>G (p.Ser570Ala) c.1627T>G (p.Ser543Ala) c.1333T>G (p.Ser445Ala) c.1714T>G (p.Ser572Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687828A>G | CA346743483 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1969T>C (p.Ser657Pro) c.*281T>C (n.*281T>C) c.3441+16148A>G (n.3441+16148A>G) c.*713T>C (n.*713T>C) c.1888T>C (p.Ser630Pro) c.276+16148A>G (n.276+16148A>G) c.*220+6396T>C (n.*220+6396T>C) c.1012T>C (p.Ser338Pro) c.1039T>C (p.Ser347Pro) c.1894T>C (p.Ser632Pro) c.1708T>C (p.Ser570Pro) c.1627T>C (p.Ser543Pro) c.1333T>C (p.Ser445Pro) c.1714T>C (p.Ser572Pro) | |
2 | g.48687828A>T | CA346743484 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1969T>A (p.Ser657Thr) c.*281T>A (n.*281T>A) c.3441+16148A>T (n.3441+16148A>T) c.*713T>A (n.*713T>A) c.1888T>A (p.Ser630Thr) c.276+16148A>T (n.276+16148A>T) c.*220+6396T>A (n.*220+6396T>A) c.1012T>A (p.Ser338Thr) c.1039T>A (p.Ser347Thr) c.1894T>A (p.Ser632Thr) c.1708T>A (p.Ser570Thr) c.1627T>A (p.Ser543Thr) c.1333T>A (p.Ser445Thr) c.1714T>A (p.Ser572Thr) | |
2 | g.48687829A>C | CA346743485 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1968T>G (p.Phe656Leu) c.*280T>G (n.*280T>G) c.3441+16149A>C (n.3441+16149A>C) c.*712T>G (n.*712T>G) c.1887T>G (p.Phe629Leu) c.276+16149A>C (n.276+16149A>C) c.*220+6395T>G (n.*220+6395T>G) c.1011T>G (p.Phe337Leu) c.1038T>G (p.Phe346Leu) c.1893T>G (p.Phe631Leu) c.1707T>G (p.Phe569Leu) c.1626T>G (p.Phe542Leu) c.1332T>G (p.Phe444Leu) c.1713T>G (p.Phe571Leu) | |
2 | g.48687829A>G | CA426125126 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1968T>C (p.Phe656=) c.*280T>C (n.*280T>C) c.3441+16149A>G (n.3441+16149A>G) c.*712T>C (n.*712T>C) c.1887T>C (p.Phe629=) c.276+16149A>G (n.276+16149A>G) c.*220+6395T>C (n.*220+6395T>C) c.1011T>C (p.Phe337=) c.1038T>C (p.Phe346=) c.1893T>C (p.Phe631=) c.1707T>C (p.Phe569=) c.1626T>C (p.Phe542=) c.1332T>C (p.Phe444=) c.1713T>C (p.Phe571=) | |
2 | g.48687829A>T | CA346743486 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1968T>A (p.Phe656Leu) c.*280T>A (n.*280T>A) c.3441+16149A>T (n.3441+16149A>T) c.*712T>A (n.*712T>A) c.1887T>A (p.Phe629Leu) c.276+16149A>T (n.276+16149A>T) c.*220+6395T>A (n.*220+6395T>A) c.1011T>A (p.Phe337Leu) c.1038T>A (p.Phe346Leu) c.1893T>A (p.Phe631Leu) c.1707T>A (p.Phe569Leu) c.1626T>A (p.Phe542Leu) c.1332T>A (p.Phe444Leu) c.1713T>A (p.Phe571Leu) | |
2 | g.48687830A= | CA1248600858 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1967T= (p.Phe656=) c.*279T= (n.*279T=) c.3441+16150A= (n.3441+16150A=) c.*711T= (n.*711T=) c.1886T= (p.Phe629=) c.276+16150A= (n.276+16150A=) c.*220+6394T= (n.*220+6394T=) c.1010T= (p.Phe337=) c.1037T= (p.Phe346=) c.1892T= (p.Phe631=) c.1706T= (p.Phe569=) c.1625T= (p.Phe542=) c.1331T= (p.Phe444=) c.1712T= (p.Phe571=) | |
2 | g.48687830A>C | CA346743491 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1967T>G (p.Phe656Cys) c.*279T>G (n.*279T>G) c.3441+16150A>C (n.3441+16150A>C) c.*711T>G (n.*711T>G) c.1886T>G (p.Phe629Cys) c.276+16150A>C (n.276+16150A>C) c.*220+6394T>G (n.*220+6394T>G) c.1010T>G (p.Phe337Cys) c.1037T>G (p.Phe346Cys) c.1892T>G (p.Phe631Cys) c.1706T>G (p.Phe569Cys) c.1625T>G (p.Phe542Cys) c.1331T>G (p.Phe444Cys) c.1712T>G (p.Phe571Cys) | |
2 | g.48687830A>G | CA1652957 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1967T>C (p.Phe656Ser) c.*279T>C (n.*279T>C) c.3441+16150A>G (n.3441+16150A>G) c.*711T>C (n.*711T>C) c.1886T>C (p.Phe629Ser) c.276+16150A>G (n.276+16150A>G) c.*220+6394T>C (n.*220+6394T>C) c.1010T>C (p.Phe337Ser) c.1037T>C (p.Phe346Ser) c.1892T>C (p.Phe631Ser) c.1706T>C (p.Phe569Ser) c.1625T>C (p.Phe542Ser) c.1331T>C (p.Phe444Ser) c.1712T>C (p.Phe571Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687830A>T | CA346743490 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1967T>A (p.Phe656Tyr) c.*279T>A (n.*279T>A) c.3441+16150A>T (n.3441+16150A>T) c.*711T>A (n.*711T>A) c.1886T>A (p.Phe629Tyr) c.276+16150A>T (n.276+16150A>T) c.*220+6394T>A (n.*220+6394T>A) c.1010T>A (p.Phe337Tyr) c.1037T>A (p.Phe346Tyr) c.1892T>A (p.Phe631Tyr) c.1706T>A (p.Phe569Tyr) c.1625T>A (p.Phe542Tyr) c.1331T>A (p.Phe444Tyr) c.1712T>A (p.Phe571Tyr) | |
2 | g.48687831A>C | CA346743497 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1966T>G (p.Phe656Val) c.*278T>G (n.*278T>G) c.3441+16151A>C (n.3441+16151A>C) c.*710T>G (n.*710T>G) c.1885T>G (p.Phe629Val) c.276+16151A>C (n.276+16151A>C) c.*220+6393T>G (n.*220+6393T>G) c.1009T>G (p.Phe337Val) c.1036T>G (p.Phe346Val) c.1891T>G (p.Phe631Val) c.1705T>G (p.Phe569Val) c.1624T>G (p.Phe542Val) c.1330T>G (p.Phe444Val) c.1711T>G (p.Phe571Val) | |
2 | g.48687831A>G | CA346743499 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1966T>C (p.Phe656Leu) c.*278T>C (n.*278T>C) c.3441+16151A>G (n.3441+16151A>G) c.*710T>C (n.*710T>C) c.1885T>C (p.Phe629Leu) c.276+16151A>G (n.276+16151A>G) c.*220+6393T>C (n.*220+6393T>C) c.1009T>C (p.Phe337Leu) c.1036T>C (p.Phe346Leu) c.1891T>C (p.Phe631Leu) c.1705T>C (p.Phe569Leu) c.1624T>C (p.Phe542Leu) c.1330T>C (p.Phe444Leu) c.1711T>C (p.Phe571Leu) | |
2 | g.48687831A>T | CA346743502 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1966T>A (p.Phe656Ile) c.*278T>A (n.*278T>A) c.3441+16151A>T (n.3441+16151A>T) c.*710T>A (n.*710T>A) c.1885T>A (p.Phe629Ile) c.276+16151A>T (n.276+16151A>T) c.*220+6393T>A (n.*220+6393T>A) c.1009T>A (p.Phe337Ile) c.1036T>A (p.Phe346Ile) c.1891T>A (p.Phe631Ile) c.1705T>A (p.Phe569Ile) c.1624T>A (p.Phe542Ile) c.1330T>A (p.Phe444Ile) c.1711T>A (p.Phe571Ile) | |
2 | g.48687832A>C | CA346743505 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1965T>G (p.Asp655Glu) c.*277T>G (n.*277T>G) c.3441+16152A>C (n.3441+16152A>C) c.*709T>G (n.*709T>G) c.1884T>G (p.Asp628Glu) c.276+16152A>C (n.276+16152A>C) c.*220+6392T>G (n.*220+6392T>G) c.1008T>G (p.Asp336Glu) c.1035T>G (p.Asp345Glu) c.1890T>G (p.Asp630Glu) c.1704T>G (p.Asp568Glu) c.1623T>G (p.Asp541Glu) c.1329T>G (p.Asp443Glu) c.1710T>G (p.Asp570Glu) | |
2 | g.48687832A>G | CA426125131 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1965T>C (p.Asp655=) c.*277T>C (n.*277T>C) c.3441+16152A>G (n.3441+16152A>G) c.*709T>C (n.*709T>C) c.1884T>C (p.Asp628=) c.276+16152A>G (n.276+16152A>G) c.*220+6392T>C (n.*220+6392T>C) c.1008T>C (p.Asp336=) c.1035T>C (p.Asp345=) c.1890T>C (p.Asp630=) c.1704T>C (p.Asp568=) c.1623T>C (p.Asp541=) c.1329T>C (p.Asp443=) c.1710T>C (p.Asp570=) | |
2 | g.48687832A>T | CA346743511 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1965T>A (p.Asp655Glu) c.*277T>A (n.*277T>A) c.3441+16152A>T (n.3441+16152A>T) c.*709T>A (n.*709T>A) c.1884T>A (p.Asp628Glu) c.276+16152A>T (n.276+16152A>T) c.*220+6392T>A (n.*220+6392T>A) c.1008T>A (p.Asp336Glu) c.1035T>A (p.Asp345Glu) c.1890T>A (p.Asp630Glu) c.1704T>A (p.Asp568Glu) c.1623T>A (p.Asp541Glu) c.1329T>A (p.Asp443Glu) c.1710T>A (p.Asp570Glu) | |
2 | g.48687833T>A | CA346743514 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1964A>T (p.Asp655Val) c.*276A>T (n.*276A>T) c.3441+16153T>A (n.3441+16153T>A) c.*708A>T (n.*708A>T) c.1883A>T (p.Asp628Val) c.276+16153T>A (n.276+16153T>A) c.*220+6391A>T (n.*220+6391A>T) c.1007A>T (p.Asp336Val) c.1034A>T (p.Asp345Val) c.1889A>T (p.Asp630Val) c.1703A>T (p.Asp568Val) c.1622A>T (p.Asp541Val) c.1328A>T (p.Asp443Val) c.1709A>T (p.Asp570Val) | |
2 | g.48687833T>C | CA346743517 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1964A>G (p.Asp655Gly) c.*276A>G (n.*276A>G) c.3441+16153T>C (n.3441+16153T>C) c.*708A>G (n.*708A>G) c.1883A>G (p.Asp628Gly) c.276+16153T>C (n.276+16153T>C) c.*220+6391A>G (n.*220+6391A>G) c.1007A>G (p.Asp336Gly) c.1034A>G (p.Asp345Gly) c.1889A>G (p.Asp630Gly) c.1703A>G (p.Asp568Gly) c.1622A>G (p.Asp541Gly) c.1328A>G (p.Asp443Gly) c.1709A>G (p.Asp570Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687833T>G | CA346743518 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1964A>C (p.Asp655Ala) c.*276A>C (n.*276A>C) c.3441+16153T>G (n.3441+16153T>G) c.*708A>C (n.*708A>C) c.1883A>C (p.Asp628Ala) c.276+16153T>G (n.276+16153T>G) c.*220+6391A>C (n.*220+6391A>C) c.1007A>C (p.Asp336Ala) c.1034A>C (p.Asp345Ala) c.1889A>C (p.Asp630Ala) c.1703A>C (p.Asp568Ala) c.1622A>C (p.Asp541Ala) c.1328A>C (p.Asp443Ala) c.1709A>C (p.Asp570Ala) | |
2 | g.48687833T= | CA1248600859 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1964A= (p.Asp655=) c.*276A= (n.*276A=) c.3441+16153T= (n.3441+16153T=) c.*708A= (n.*708A=) c.1883A= (p.Asp628=) c.276+16153T= (n.276+16153T=) c.*220+6391A= (n.*220+6391A=) c.1007A= (p.Asp336=) c.1034A= (p.Asp345=) c.1889A= (p.Asp630=) c.1703A= (p.Asp568=) c.1622A= (p.Asp541=) c.1328A= (p.Asp443=) c.1709A= (p.Asp570=) | |
2 | g.48687834C>A | CA346743521 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1963G>T (p.Asp655Tyr) c.*275G>T (n.*275G>T) c.3441+16154C>A (n.3441+16154C>A) c.*707G>T (n.*707G>T) c.1882G>T (p.Asp628Tyr) c.276+16154C>A (n.276+16154C>A) c.*220+6390G>T (n.*220+6390G>T) c.1006G>T (p.Asp336Tyr) c.1033G>T (p.Asp345Tyr) c.1888G>T (p.Asp630Tyr) c.1702G>T (p.Asp568Tyr) c.1621G>T (p.Asp541Tyr) c.1327G>T (p.Asp443Tyr) c.1708G>T (p.Asp570Tyr) | gnomAD v4 COSMIC |
2 | g.48687834C= | CA1248600860 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1963G= (p.Asp655=) c.*275G= (n.*275G=) c.3441+16154C= (n.3441+16154C=) c.*707G= (n.*707G=) c.1882G= (p.Asp628=) c.276+16154C= (n.276+16154C=) c.*220+6390G= (n.*220+6390G=) c.1006G= (p.Asp336=) c.1033G= (p.Asp345=) c.1888G= (p.Asp630=) c.1702G= (p.Asp568=) c.1621G= (p.Asp541=) c.1327G= (p.Asp443=) c.1708G= (p.Asp570=) | |
2 | g.48687834C>G | CA346743523 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1963G>C (p.Asp655His) c.*275G>C (n.*275G>C) c.3441+16154C>G (n.3441+16154C>G) c.*707G>C (n.*707G>C) c.1882G>C (p.Asp628His) c.276+16154C>G (n.276+16154C>G) c.*220+6390G>C (n.*220+6390G>C) c.1006G>C (p.Asp336His) c.1033G>C (p.Asp345His) c.1888G>C (p.Asp630His) c.1702G>C (p.Asp568His) c.1621G>C (p.Asp541His) c.1327G>C (p.Asp443His) c.1708G>C (p.Asp570His) | dbSNP gnomAD v4 |
2 | g.48687834C>T | CA346743526 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1963G>A (p.Asp655Asn) c.*275G>A (n.*275G>A) c.3441+16154C>T (n.3441+16154C>T) c.*707G>A (n.*707G>A) c.1882G>A (p.Asp628Asn) c.276+16154C>T (n.276+16154C>T) c.*220+6390G>A (n.*220+6390G>A) c.1006G>A (p.Asp336Asn) c.1033G>A (p.Asp345Asn) c.1888G>A (p.Asp630Asn) c.1702G>A (p.Asp568Asn) c.1621G>A (p.Asp541Asn) c.1327G>A (p.Asp443Asn) c.1708G>A (p.Asp570Asn) | |
2 | g.48687835T>A | CA1652958 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1962A>T (p.Lys654Asn) c.*274A>T (n.*274A>T) c.3441+16155T>A (n.3441+16155T>A) c.*706A>T (n.*706A>T) c.1881A>T (p.Lys627Asn) c.276+16155T>A (n.276+16155T>A) c.*220+6389A>T (n.*220+6389A>T) c.1005A>T (p.Lys335Asn) c.1032A>T (p.Lys344Asn) c.1887A>T (p.Lys629Asn) c.1701A>T (p.Lys567Asn) c.1620A>T (p.Lys540Asn) c.1326A>T (p.Lys442Asn) c.1707A>T (p.Lys569Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687835T>C | CA426125134 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1962A>G (p.Lys654=) c.*274A>G (n.*274A>G) c.3441+16155T>C (n.3441+16155T>C) c.*706A>G (n.*706A>G) c.1881A>G (p.Lys627=) c.276+16155T>C (n.276+16155T>C) c.*220+6389A>G (n.*220+6389A>G) c.1005A>G (p.Lys335=) c.1032A>G (p.Lys344=) c.1887A>G (p.Lys629=) c.1701A>G (p.Lys567=) c.1620A>G (p.Lys540=) c.1326A>G (p.Lys442=) c.1707A>G (p.Lys569=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687835T>G | CA346743527 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1962A>C (p.Lys654Asn) c.*274A>C (n.*274A>C) c.3441+16155T>G (n.3441+16155T>G) c.*706A>C (n.*706A>C) c.1881A>C (p.Lys627Asn) c.276+16155T>G (n.276+16155T>G) c.*220+6389A>C (n.*220+6389A>C) c.1005A>C (p.Lys335Asn) c.1032A>C (p.Lys344Asn) c.1887A>C (p.Lys629Asn) c.1701A>C (p.Lys567Asn) c.1620A>C (p.Lys540Asn) c.1326A>C (p.Lys442Asn) c.1707A>C (p.Lys569Asn) | |
2 | g.48687835T= | CA1248600861 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1962A= (p.Lys654=) c.*274A= (n.*274A=) c.3441+16155T= (n.3441+16155T=) c.*706A= (n.*706A=) c.1881A= (p.Lys627=) c.276+16155T= (n.276+16155T=) c.*220+6389A= (n.*220+6389A=) c.1005A= (p.Lys335=) c.1032A= (p.Lys344=) c.1887A= (p.Lys629=) c.1701A= (p.Lys567=) c.1620A= (p.Lys540=) c.1326A= (p.Lys442=) c.1707A= (p.Lys569=) | |
2 | g.48687836T>A | CA346743533 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1961A>T (p.Lys654Ile) c.*273A>T (n.*273A>T) c.3441+16156T>A (n.3441+16156T>A) c.*705A>T (n.*705A>T) c.1880A>T (p.Lys627Ile) c.276+16156T>A (n.276+16156T>A) c.*220+6388A>T (n.*220+6388A>T) c.1004A>T (p.Lys335Ile) c.1031A>T (p.Lys344Ile) c.1886A>T (p.Lys629Ile) c.1700A>T (p.Lys567Ile) c.1619A>T (p.Lys540Ile) c.1325A>T (p.Lys442Ile) c.1706A>T (p.Lys569Ile) | |
2 | g.48687836T>C | CA346743537 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1961A>G (p.Lys654Arg) c.*273A>G (n.*273A>G) c.3441+16156T>C (n.3441+16156T>C) c.*705A>G (n.*705A>G) c.1880A>G (p.Lys627Arg) c.276+16156T>C (n.276+16156T>C) c.*220+6388A>G (n.*220+6388A>G) c.1004A>G (p.Lys335Arg) c.1031A>G (p.Lys344Arg) c.1886A>G (p.Lys629Arg) c.1700A>G (p.Lys567Arg) c.1619A>G (p.Lys540Arg) c.1325A>G (p.Lys442Arg) c.1706A>G (p.Lys569Arg) | |
2 | g.48687836T>G | CA346743534 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1961A>C (p.Lys654Thr) c.*273A>C (n.*273A>C) c.3441+16156T>G (n.3441+16156T>G) c.*705A>C (n.*705A>C) c.1880A>C (p.Lys627Thr) c.276+16156T>G (n.276+16156T>G) c.*220+6388A>C (n.*220+6388A>C) c.1004A>C (p.Lys335Thr) c.1031A>C (p.Lys344Thr) c.1886A>C (p.Lys629Thr) c.1700A>C (p.Lys567Thr) c.1619A>C (p.Lys540Thr) c.1325A>C (p.Lys442Thr) c.1706A>C (p.Lys569Thr) | |
2 | g.48687837T>A | CA346743541 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1960A>T (p.Lys654Ter) c.*272A>T (n.*272A>T) c.3441+16157T>A (n.3441+16157T>A) c.*704A>T (n.*704A>T) c.1879A>T (p.Lys627Ter) c.276+16157T>A (n.276+16157T>A) c.*220+6387A>T (n.*220+6387A>T) c.1003A>T (p.Lys335Ter) c.1030A>T (p.Lys344Ter) c.1885A>T (p.Lys629Ter) c.1699A>T (p.Lys567Ter) c.1618A>T (p.Lys540Ter) c.1324A>T (p.Lys442Ter) c.1705A>T (p.Lys569Ter) | |
2 | g.48687837T>C | CA346743543 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1960A>G (p.Lys654Glu) c.*272A>G (n.*272A>G) c.3441+16157T>C (n.3441+16157T>C) c.*704A>G (n.*704A>G) c.1879A>G (p.Lys627Glu) c.276+16157T>C (n.276+16157T>C) c.*220+6387A>G (n.*220+6387A>G) c.1003A>G (p.Lys335Glu) c.1030A>G (p.Lys344Glu) c.1885A>G (p.Lys629Glu) c.1699A>G (p.Lys567Glu) c.1618A>G (p.Lys540Glu) c.1324A>G (p.Lys442Glu) c.1705A>G (p.Lys569Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687837T>G | CA346743545 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1960A>C (p.Lys654Gln) c.*272A>C (n.*272A>C) c.3441+16157T>G (n.3441+16157T>G) c.*704A>C (n.*704A>C) c.1879A>C (p.Lys627Gln) c.276+16157T>G (n.276+16157T>G) c.*220+6387A>C (n.*220+6387A>C) c.1003A>C (p.Lys335Gln) c.1030A>C (p.Lys344Gln) c.1885A>C (p.Lys629Gln) c.1699A>C (p.Lys567Gln) c.1618A>C (p.Lys540Gln) c.1324A>C (p.Lys442Gln) c.1705A>C (p.Lys569Gln) | |
2 | g.48687837T= | CA1248600862 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1960A= (p.Lys654=) c.*272A= (n.*272A=) c.3441+16157T= (n.3441+16157T=) c.*704A= (n.*704A=) c.1879A= (p.Lys627=) c.276+16157T= (n.276+16157T=) c.*220+6387A= (n.*220+6387A=) c.1003A= (p.Lys335=) c.1030A= (p.Lys344=) c.1885A= (p.Lys629=) c.1699A= (p.Lys567=) c.1618A= (p.Lys540=) c.1324A= (p.Lys442=) c.1705A= (p.Lys569=) | |
2 | g.48687838C>A | CA346743548 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1959G>T (p.Arg653Ser) c.*271G>T (n.*271G>T) c.3441+16158C>A (n.3441+16158C>A) c.*703G>T (n.*703G>T) c.1878G>T (p.Arg626Ser) c.276+16158C>A (n.276+16158C>A) c.*220+6386G>T (n.*220+6386G>T) c.1002G>T (p.Arg334Ser) c.1029G>T (p.Arg343Ser) c.1884G>T (p.Arg628Ser) c.1698G>T (p.Arg566Ser) c.1617G>T (p.Arg539Ser) c.1323G>T (p.Arg441Ser) c.1704G>T (p.Arg568Ser) | |
2 | g.48687838C>G | CA346743549 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1959G>C (p.Arg653Ser) c.*271G>C (n.*271G>C) c.3441+16158C>G (n.3441+16158C>G) c.*703G>C (n.*703G>C) c.1878G>C (p.Arg626Ser) c.276+16158C>G (n.276+16158C>G) c.*220+6386G>C (n.*220+6386G>C) c.1002G>C (p.Arg334Ser) c.1029G>C (p.Arg343Ser) c.1884G>C (p.Arg628Ser) c.1698G>C (p.Arg566Ser) c.1617G>C (p.Arg539Ser) c.1323G>C (p.Arg441Ser) c.1704G>C (p.Arg568Ser) | gnomAD v4 |
2 | g.48687838C>T | CA426125140 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1959G>A (p.Arg653=) c.*271G>A (n.*271G>A) c.3441+16158C>T (n.3441+16158C>T) c.*703G>A (n.*703G>A) c.1878G>A (p.Arg626=) c.276+16158C>T (n.276+16158C>T) c.*220+6386G>A (n.*220+6386G>A) c.1002G>A (p.Arg334=) c.1029G>A (p.Arg343=) c.1884G>A (p.Arg628=) c.1698G>A (p.Arg566=) c.1617G>A (p.Arg539=) c.1323G>A (p.Arg441=) c.1704G>A (p.Arg568=) | |
2 | g.48687839C>A | CA346743552 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1958G>T (p.Arg653Met) c.*270G>T (n.*270G>T) c.3441+16159C>A (n.3441+16159C>A) c.*702G>T (n.*702G>T) c.1877G>T (p.Arg626Met) c.276+16159C>A (n.276+16159C>A) c.*220+6385G>T (n.*220+6385G>T) c.1001G>T (p.Arg334Met) c.1028G>T (p.Arg343Met) c.1883G>T (p.Arg628Met) c.1697G>T (p.Arg566Met) c.1616G>T (p.Arg539Met) c.1322G>T (p.Arg441Met) c.1703G>T (p.Arg568Met) | |
2 | g.48687839C>G | CA346743554 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1958G>C (p.Arg653Thr) c.*270G>C (n.*270G>C) c.3441+16159C>G (n.3441+16159C>G) c.*702G>C (n.*702G>C) c.1877G>C (p.Arg626Thr) c.276+16159C>G (n.276+16159C>G) c.*220+6385G>C (n.*220+6385G>C) c.1001G>C (p.Arg334Thr) c.1028G>C (p.Arg343Thr) c.1883G>C (p.Arg628Thr) c.1697G>C (p.Arg566Thr) c.1616G>C (p.Arg539Thr) c.1322G>C (p.Arg441Thr) c.1703G>C (p.Arg568Thr) | |
2 | g.48687839C>T | CA346743556 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1958G>A (p.Arg653Lys) c.*270G>A (n.*270G>A) c.3441+16159C>T (n.3441+16159C>T) c.*702G>A (n.*702G>A) c.1877G>A (p.Arg626Lys) c.276+16159C>T (n.276+16159C>T) c.*220+6385G>A (n.*220+6385G>A) c.1001G>A (p.Arg334Lys) c.1028G>A (p.Arg343Lys) c.1883G>A (p.Arg628Lys) c.1697G>A (p.Arg566Lys) c.1616G>A (p.Arg539Lys) c.1322G>A (p.Arg441Lys) c.1703G>A (p.Arg568Lys) | gnomAD v4 |
2 | g.48687839_48687840delinsCT | CA1248600863 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1957_1958delinsAG (p.Arg653=) c.*269_*270delinsAG (n.*269_*270delinsAG) c.3441+16159_3441+16160delinsCT (n.3441+16159_3441+16160delinsCT) c.*701_*702delinsAG (n.*701_*702delinsAG) c.1876_1877delinsAG (p.Arg626=) c.276+16159_276+16160delinsCT (n.276+16159_276+16160delinsCT) c.*220+6384_*220+6385delinsAG (n.*220+6384_*220+6385delinsAG) c.1000_1001delinsAG (p.Arg334=) c.1027_1028delinsAG (p.Arg343=) c.1882_1883delinsAG (p.Arg628=) c.1696_1697delinsAG (p.Arg566=) c.1615_1616delinsAG (p.Arg539=) c.1321_1322delinsAG (p.Arg441=) c.1702_1703delinsAG (p.Arg568=) | |
2 | g.48687840T>A | CA346743559 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1957A>T (p.Arg653Trp) c.*269A>T (n.*269A>T) c.3441+16160T>A (n.3441+16160T>A) c.*701A>T (n.*701A>T) c.1876A>T (p.Arg626Trp) c.276+16160T>A (n.276+16160T>A) c.*220+6384A>T (n.*220+6384A>T) c.1000A>T (p.Arg334Trp) c.1027A>T (p.Arg343Trp) c.1882A>T (p.Arg628Trp) c.1696A>T (p.Arg566Trp) c.1615A>T (p.Arg539Trp) c.1321A>T (p.Arg441Trp) c.1702A>T (p.Arg568Trp) | |
2 | g.48687840T>C | CA346743560 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1957A>G (p.Arg653Gly) c.*269A>G (n.*269A>G) c.3441+16160T>C (n.3441+16160T>C) c.*701A>G (n.*701A>G) c.1876A>G (p.Arg626Gly) c.276+16160T>C (n.276+16160T>C) c.*220+6384A>G (n.*220+6384A>G) c.1000A>G (p.Arg334Gly) c.1027A>G (p.Arg343Gly) c.1882A>G (p.Arg628Gly) c.1696A>G (p.Arg566Gly) c.1615A>G (p.Arg539Gly) c.1321A>G (p.Arg441Gly) c.1702A>G (p.Arg568Gly) | |
2 | g.48687840T>G | CA426125143 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1957A>C (p.Arg653=) c.*269A>C (n.*269A>C) c.3441+16160T>G (n.3441+16160T>G) c.*701A>C (n.*701A>C) c.1876A>C (p.Arg626=) c.276+16160T>G (n.276+16160T>G) c.*220+6384A>C (n.*220+6384A>C) c.1000A>C (p.Arg334=) c.1027A>C (p.Arg343=) c.1882A>C (p.Arg628=) c.1696A>C (p.Arg566=) c.1615A>C (p.Arg539=) c.1321A>C (p.Arg441=) c.1702A>C (p.Arg568=) | |
2 | g.48687841del | CA1248600864 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1957del (p.Arg653GlyfsTer26) c.*269del (n.*269del) c.3441+16161del (n.3441+16161del) c.*701del (n.*701del) c.1876del (p.Arg626GlyfsTer26) c.276+16161del (n.276+16161del) c.*220+6384del (n.*220+6384del) c.1000del (p.Arg334GlyfsTer26) c.1027del (p.Arg343GlyfsTer26) c.1882del (p.Arg628GlyfsTer26) c.1696del (p.Arg566GlyfsTer26) c.1615del (p.Arg539GlyfsTer26) c.1321del (p.Arg441GlyfsTer26) c.1702del (p.Arg568GlyfsTer26) | dbSNP |
2 | g.48687841T>A | CA346743564 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1956A>T (p.Arg652Ser) c.*268A>T (n.*268A>T) c.3441+16161T>A (n.3441+16161T>A) c.*700A>T (n.*700A>T) c.1875A>T (p.Arg625Ser) c.276+16161T>A (n.276+16161T>A) c.*220+6383A>T (n.*220+6383A>T) c.999A>T (p.Arg333Ser) c.1026A>T (p.Arg342Ser) c.1881A>T (p.Arg627Ser) c.1695A>T (p.Arg565Ser) c.1614A>T (p.Arg538Ser) c.1320A>T (p.Arg440Ser) c.1701A>T (p.Arg567Ser) | gnomAD v4 |
2 | g.48687841T>C | CA426125145 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1956A>G (p.Arg652=) c.*268A>G (n.*268A>G) c.3441+16161T>C (n.3441+16161T>C) c.*700A>G (n.*700A>G) c.1875A>G (p.Arg625=) c.276+16161T>C (n.276+16161T>C) c.*220+6383A>G (n.*220+6383A>G) c.999A>G (p.Arg333=) c.1026A>G (p.Arg342=) c.1881A>G (p.Arg627=) c.1695A>G (p.Arg565=) c.1614A>G (p.Arg538=) c.1320A>G (p.Arg440=) c.1701A>G (p.Arg567=) | |
2 | g.48687841T>G | CA346743567 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1956A>C (p.Arg652Ser) c.*268A>C (n.*268A>C) c.3441+16161T>G (n.3441+16161T>G) c.*700A>C (n.*700A>C) c.1875A>C (p.Arg625Ser) c.276+16161T>G (n.276+16161T>G) c.*220+6383A>C (n.*220+6383A>C) c.999A>C (p.Arg333Ser) c.1026A>C (p.Arg342Ser) c.1881A>C (p.Arg627Ser) c.1695A>C (p.Arg565Ser) c.1614A>C (p.Arg538Ser) c.1320A>C (p.Arg440Ser) c.1701A>C (p.Arg567Ser) | |
2 | g.48687842C>A | CA346743576 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1955G>T (p.Arg652Ile) c.*267G>T (n.*267G>T) c.3441+16162C>A (n.3441+16162C>A) c.*699G>T (n.*699G>T) c.1874G>T (p.Arg625Ile) c.276+16162C>A (n.276+16162C>A) c.*220+6382G>T (n.*220+6382G>T) c.998G>T (p.Arg333Ile) c.1025G>T (p.Arg342Ile) c.1880G>T (p.Arg627Ile) c.1694G>T (p.Arg565Ile) c.1613G>T (p.Arg538Ile) c.1319G>T (p.Arg440Ile) c.1700G>T (p.Arg567Ile) | |
2 | g.48687842C= | CA1248600865 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1955G= (p.Arg652=) c.*267G= (n.*267G=) c.3441+16162C= (n.3441+16162C=) c.*699G= (n.*699G=) c.1874G= (p.Arg625=) c.276+16162C= (n.276+16162C=) c.*220+6382G= (n.*220+6382G=) c.998G= (p.Arg333=) c.1025G= (p.Arg342=) c.1880G= (p.Arg627=) c.1694G= (p.Arg565=) c.1613G= (p.Arg538=) c.1319G= (p.Arg440=) c.1700G= (p.Arg567=) | |
2 | g.48687842C>G | CA346743571 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1955G>C (p.Arg652Thr) c.*267G>C (n.*267G>C) c.3441+16162C>G (n.3441+16162C>G) c.*699G>C (n.*699G>C) c.1874G>C (p.Arg625Thr) c.276+16162C>G (n.276+16162C>G) c.*220+6382G>C (n.*220+6382G>C) c.998G>C (p.Arg333Thr) c.1025G>C (p.Arg342Thr) c.1880G>C (p.Arg627Thr) c.1694G>C (p.Arg565Thr) c.1613G>C (p.Arg538Thr) c.1319G>C (p.Arg440Thr) c.1700G>C (p.Arg567Thr) | |
2 | g.48687842C>T | CA346743573 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1955G>A (p.Arg652Lys) c.*267G>A (n.*267G>A) c.3441+16162C>T (n.3441+16162C>T) c.*699G>A (n.*699G>A) c.1874G>A (p.Arg625Lys) c.276+16162C>T (n.276+16162C>T) c.*220+6382G>A (n.*220+6382G>A) c.998G>A (p.Arg333Lys) c.1025G>A (p.Arg342Lys) c.1880G>A (p.Arg627Lys) c.1694G>A (p.Arg565Lys) c.1613G>A (p.Arg538Lys) c.1319G>A (p.Arg440Lys) c.1700G>A (p.Arg567Lys) | dbSNP |
2 | g.48687843T>A | CA346743579 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1954A>T (p.Arg652Ter) c.*266A>T (n.*266A>T) c.3441+16163T>A (n.3441+16163T>A) c.*698A>T (n.*698A>T) c.1873A>T (p.Arg625Ter) c.276+16163T>A (n.276+16163T>A) c.*220+6381A>T (n.*220+6381A>T) c.997A>T (p.Arg333Ter) c.1024A>T (p.Arg342Ter) c.1879A>T (p.Arg627Ter) c.1693A>T (p.Arg565Ter) c.1612A>T (p.Arg538Ter) c.1318A>T (p.Arg440Ter) c.1699A>T (p.Arg567Ter) | |
2 | g.48687843T>C | CA346743581 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1954A>G (p.Arg652Gly) c.*266A>G (n.*266A>G) c.3441+16163T>C (n.3441+16163T>C) c.*698A>G (n.*698A>G) c.1873A>G (p.Arg625Gly) c.276+16163T>C (n.276+16163T>C) c.*220+6381A>G (n.*220+6381A>G) c.997A>G (p.Arg333Gly) c.1024A>G (p.Arg342Gly) c.1879A>G (p.Arg627Gly) c.1693A>G (p.Arg565Gly) c.1612A>G (p.Arg538Gly) c.1318A>G (p.Arg440Gly) c.1699A>G (p.Arg567Gly) | gnomAD v4 |
2 | g.48687843T>G | CA426125151 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1954A>C (p.Arg652=) c.*266A>C (n.*266A>C) c.3441+16163T>G (n.3441+16163T>G) c.*698A>C (n.*698A>C) c.1873A>C (p.Arg625=) c.276+16163T>G (n.276+16163T>G) c.*220+6381A>C (n.*220+6381A>C) c.997A>C (p.Arg333=) c.1024A>C (p.Arg342=) c.1879A>C (p.Arg627=) c.1693A>C (p.Arg565=) c.1612A>C (p.Arg538=) c.1318A>C (p.Arg440=) c.1699A>C (p.Arg567=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687843T= | CA1248600866 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1954A= (p.Arg652=) c.*266A= (n.*266A=) c.3441+16163T= (n.3441+16163T=) c.*698A= (n.*698A=) c.1873A= (p.Arg625=) c.276+16163T= (n.276+16163T=) c.*220+6381A= (n.*220+6381A=) c.997A= (p.Arg333=) c.1024A= (p.Arg342=) c.1879A= (p.Arg627=) c.1693A= (p.Arg565=) c.1612A= (p.Arg538=) c.1318A= (p.Arg440=) c.1699A= (p.Arg567=) | |
2 | g.48687844A= | CA1248600867 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1953T= (p.Tyr651=) c.*265T= (n.*265T=) c.3441+16164A= (n.3441+16164A=) c.*697T= (n.*697T=) c.1872T= (p.Tyr624=) c.276+16164A= (n.276+16164A=) c.*220+6380T= (n.*220+6380T=) c.996T= (p.Tyr332=) c.1023T= (p.Tyr341=) c.1878T= (p.Tyr626=) c.1692T= (p.Tyr564=) c.1611T= (p.Tyr537=) c.1317T= (p.Tyr439=) c.1698T= (p.Tyr566=) | |
2 | g.48687844A>C | CA346743584 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1953T>G (p.Tyr651Ter) c.*265T>G (n.*265T>G) c.3441+16164A>C (n.3441+16164A>C) c.*697T>G (n.*697T>G) c.1872T>G (p.Tyr624Ter) c.276+16164A>C (n.276+16164A>C) c.*220+6380T>G (n.*220+6380T>G) c.996T>G (p.Tyr332Ter) c.1023T>G (p.Tyr341Ter) c.1878T>G (p.Tyr626Ter) c.1692T>G (p.Tyr564Ter) c.1611T>G (p.Tyr537Ter) c.1317T>G (p.Tyr439Ter) c.1698T>G (p.Tyr566Ter) | |
2 | g.48687844A>G | CA1652959 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1953T>C (p.Tyr651=) c.*265T>C (n.*265T>C) c.3441+16164A>G (n.3441+16164A>G) c.*697T>C (n.*697T>C) c.1872T>C (p.Tyr624=) c.276+16164A>G (n.276+16164A>G) c.*220+6380T>C (n.*220+6380T>C) c.996T>C (p.Tyr332=) c.1023T>C (p.Tyr341=) c.1878T>C (p.Tyr626=) c.1692T>C (p.Tyr564=) c.1611T>C (p.Tyr537=) c.1317T>C (p.Tyr439=) c.1698T>C (p.Tyr566=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687844A>T | CA346743588 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1953T>A (p.Tyr651Ter) c.*265T>A (n.*265T>A) c.3441+16164A>T (n.3441+16164A>T) c.*697T>A (n.*697T>A) c.1872T>A (p.Tyr624Ter) c.276+16164A>T (n.276+16164A>T) c.*220+6380T>A (n.*220+6380T>A) c.996T>A (p.Tyr332Ter) c.1023T>A (p.Tyr341Ter) c.1878T>A (p.Tyr626Ter) c.1692T>A (p.Tyr564Ter) c.1611T>A (p.Tyr537Ter) c.1317T>A (p.Tyr439Ter) c.1698T>A (p.Tyr566Ter) | gnomAD v4 |
2 | g.48687845T>A | CA346743590 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1952A>T (p.Tyr651Phe) c.*264A>T (n.*264A>T) c.3441+16165T>A (n.3441+16165T>A) c.*696A>T (n.*696A>T) c.1871A>T (p.Tyr624Phe) c.276+16165T>A (n.276+16165T>A) c.*220+6379A>T (n.*220+6379A>T) c.995A>T (p.Tyr332Phe) c.1022A>T (p.Tyr341Phe) c.1877A>T (p.Tyr626Phe) c.1691A>T (p.Tyr564Phe) c.1610A>T (p.Tyr537Phe) c.1316A>T (p.Tyr439Phe) c.1697A>T (p.Tyr566Phe) | |
2 | g.48687845T>C | CA346743592 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1952A>G (p.Tyr651Cys) c.*264A>G (n.*264A>G) c.3441+16165T>C (n.3441+16165T>C) c.*696A>G (n.*696A>G) c.1871A>G (p.Tyr624Cys) c.276+16165T>C (n.276+16165T>C) c.*220+6379A>G (n.*220+6379A>G) c.995A>G (p.Tyr332Cys) c.1022A>G (p.Tyr341Cys) c.1877A>G (p.Tyr626Cys) c.1691A>G (p.Tyr564Cys) c.1610A>G (p.Tyr537Cys) c.1316A>G (p.Tyr439Cys) c.1697A>G (p.Tyr566Cys) | |
2 | g.48687845T>G | CA346743593 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1952A>C (p.Tyr651Ser) c.*264A>C (n.*264A>C) c.3441+16165T>G (n.3441+16165T>G) c.*696A>C (n.*696A>C) c.1871A>C (p.Tyr624Ser) c.276+16165T>G (n.276+16165T>G) c.*220+6379A>C (n.*220+6379A>C) c.995A>C (p.Tyr332Ser) c.1022A>C (p.Tyr341Ser) c.1877A>C (p.Tyr626Ser) c.1691A>C (p.Tyr564Ser) c.1610A>C (p.Tyr537Ser) c.1316A>C (p.Tyr439Ser) c.1697A>C (p.Tyr566Ser) | dbSNP gnomAD v4 |
2 | g.48687845T= | CA1248600868 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1952A= (p.Tyr651=) c.*264A= (n.*264A=) c.3441+16165T= (n.3441+16165T=) c.*696A= (n.*696A=) c.1871A= (p.Tyr624=) c.276+16165T= (n.276+16165T=) c.*220+6379A= (n.*220+6379A=) c.995A= (p.Tyr332=) c.1022A= (p.Tyr341=) c.1877A= (p.Tyr626=) c.1691A= (p.Tyr564=) c.1610A= (p.Tyr537=) c.1316A= (p.Tyr439=) c.1697A= (p.Tyr566=) | |
2 | g.48687846A= | CA1248600869 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1951T= (p.Tyr651=) c.*263T= (n.*263T=) c.3441+16166A= (n.3441+16166A=) c.*695T= (n.*695T=) c.1870T= (p.Tyr624=) c.276+16166A= (n.276+16166A=) c.*220+6378T= (n.*220+6378T=) c.994T= (p.Tyr332=) c.1021T= (p.Tyr341=) c.1876T= (p.Tyr626=) c.1690T= (p.Tyr564=) c.1609T= (p.Tyr537=) c.1315T= (p.Tyr439=) c.1696T= (p.Tyr566=) | |
2 | g.48687846A>C | CA346743594 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1951T>G (p.Tyr651Asp) c.*263T>G (n.*263T>G) c.3441+16166A>C (n.3441+16166A>C) c.*695T>G (n.*695T>G) c.1870T>G (p.Tyr624Asp) c.276+16166A>C (n.276+16166A>C) c.*220+6378T>G (n.*220+6378T>G) c.994T>G (p.Tyr332Asp) c.1021T>G (p.Tyr341Asp) c.1876T>G (p.Tyr626Asp) c.1690T>G (p.Tyr564Asp) c.1609T>G (p.Tyr537Asp) c.1315T>G (p.Tyr439Asp) c.1696T>G (p.Tyr566Asp) | |
2 | g.48687846A>G | CA346743596 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1951T>C (p.Tyr651His) c.*263T>C (n.*263T>C) c.3441+16166A>G (n.3441+16166A>G) c.*695T>C (n.*695T>C) c.1870T>C (p.Tyr624His) c.276+16166A>G (n.276+16166A>G) c.*220+6378T>C (n.*220+6378T>C) c.994T>C (p.Tyr332His) c.1021T>C (p.Tyr341His) c.1876T>C (p.Tyr626His) c.1690T>C (p.Tyr564His) c.1609T>C (p.Tyr537His) c.1315T>C (p.Tyr439His) c.1696T>C (p.Tyr566His) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687846A>T | CA346743597 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1951T>A (p.Tyr651Asn) c.*263T>A (n.*263T>A) c.3441+16166A>T (n.3441+16166A>T) c.*695T>A (n.*695T>A) c.1870T>A (p.Tyr624Asn) c.276+16166A>T (n.276+16166A>T) c.*220+6378T>A (n.*220+6378T>A) c.994T>A (p.Tyr332Asn) c.1021T>A (p.Tyr341Asn) c.1876T>A (p.Tyr626Asn) c.1690T>A (p.Tyr564Asn) c.1609T>A (p.Tyr537Asn) c.1315T>A (p.Tyr439Asn) c.1696T>A (p.Tyr566Asn) | |
2 | g.48687848dup | CA2658992078 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1951dup (p.Tyr651LeufsTer2) c.*263dup (n.*263dup) c.3441+16168dup (n.3441+16168dup) c.*695dup (n.*695dup) c.1870dup (p.Tyr624LeufsTer2) c.276+16168dup (n.276+16168dup) c.*220+6378dup (n.*220+6378dup) c.994dup (p.Tyr332LeufsTer2) c.1021dup (p.Tyr341LeufsTer2) c.1876dup (p.Tyr626LeufsTer2) c.1690dup (p.Tyr564LeufsTer2) c.1609dup (p.Tyr537LeufsTer2) c.1315dup (p.Tyr439LeufsTer2) c.1696dup (p.Tyr566LeufsTer2) | gnomAD v4 |
2 | g.48687847A>C | CA426125159 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1950T>G (p.Leu650=) c.*262T>G (n.*262T>G) c.3441+16167A>C (n.3441+16167A>C) c.*694T>G (n.*694T>G) c.1869T>G (p.Leu623=) c.276+16167A>C (n.276+16167A>C) c.*220+6377T>G (n.*220+6377T>G) c.993T>G (p.Leu331=) c.1020T>G (p.Leu340=) c.1875T>G (p.Leu625=) c.1689T>G (p.Leu563=) c.1608T>G (p.Leu536=) c.1314T>G (p.Leu438=) c.1695T>G (p.Leu565=) | |
2 | g.48687847A>G | CA426125160 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1950T>C (p.Leu650=) c.*262T>C (n.*262T>C) c.3441+16167A>G (n.3441+16167A>G) c.*694T>C (n.*694T>C) c.1869T>C (p.Leu623=) c.276+16167A>G (n.276+16167A>G) c.*220+6377T>C (n.*220+6377T>C) c.993T>C (p.Leu331=) c.1020T>C (p.Leu340=) c.1875T>C (p.Leu625=) c.1689T>C (p.Leu563=) c.1608T>C (p.Leu536=) c.1314T>C (p.Leu438=) c.1695T>C (p.Leu565=) | |
2 | g.48687847A>T | CA426125161 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1950T>A (p.Leu650=) c.*262T>A (n.*262T>A) c.3441+16167A>T (n.3441+16167A>T) c.*694T>A (n.*694T>A) c.1869T>A (p.Leu623=) c.276+16167A>T (n.276+16167A>T) c.*220+6377T>A (n.*220+6377T>A) c.993T>A (p.Leu331=) c.1020T>A (p.Leu340=) c.1875T>A (p.Leu625=) c.1689T>A (p.Leu563=) c.1608T>A (p.Leu536=) c.1314T>A (p.Leu438=) c.1695T>A (p.Leu565=) | gnomAD v4 |
2 | g.48687848A>C | CA346743605 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1949T>G (p.Leu650Arg) c.*261T>G (n.*261T>G) c.3441+16168A>C (n.3441+16168A>C) c.*693T>G (n.*693T>G) c.1868T>G (p.Leu623Arg) c.276+16168A>C (n.276+16168A>C) c.*220+6376T>G (n.*220+6376T>G) c.992T>G (p.Leu331Arg) c.1019T>G (p.Leu340Arg) c.1874T>G (p.Leu625Arg) c.1688T>G (p.Leu563Arg) c.1607T>G (p.Leu536Arg) c.1313T>G (p.Leu438Arg) c.1694T>G (p.Leu565Arg) | |
2 | g.48687848A>G | CA346743603 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1949T>C (p.Leu650Pro) c.*261T>C (n.*261T>C) c.3441+16168A>G (n.3441+16168A>G) c.*693T>C (n.*693T>C) c.1868T>C (p.Leu623Pro) c.276+16168A>G (n.276+16168A>G) c.*220+6376T>C (n.*220+6376T>C) c.992T>C (p.Leu331Pro) c.1019T>C (p.Leu340Pro) c.1874T>C (p.Leu625Pro) c.1688T>C (p.Leu563Pro) c.1607T>C (p.Leu536Pro) c.1313T>C (p.Leu438Pro) c.1694T>C (p.Leu565Pro) | |
2 | g.48687848A>T | CA346743601 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1949T>A (p.Leu650His) c.*261T>A (n.*261T>A) c.3441+16168A>T (n.3441+16168A>T) c.*693T>A (n.*693T>A) c.1868T>A (p.Leu623His) c.276+16168A>T (n.276+16168A>T) c.*220+6376T>A (n.*220+6376T>A) c.992T>A (p.Leu331His) c.1019T>A (p.Leu340His) c.1874T>A (p.Leu625His) c.1688T>A (p.Leu563His) c.1607T>A (p.Leu536His) c.1313T>A (p.Leu438His) c.1694T>A (p.Leu565His) | COSMIC |
2 | g.48687849G>A | CA346743609 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1948C>T (p.Leu650Phe) c.*260C>T (n.*260C>T) c.3441+16169G>A (n.3441+16169G>A) c.*692C>T (n.*692C>T) c.1867C>T (p.Leu623Phe) c.276+16169G>A (n.276+16169G>A) c.*220+6375C>T (n.*220+6375C>T) c.991C>T (p.Leu331Phe) c.1018C>T (p.Leu340Phe) c.1873C>T (p.Leu625Phe) c.1687C>T (p.Leu563Phe) c.1606C>T (p.Leu536Phe) c.1312C>T (p.Leu438Phe) c.1693C>T (p.Leu565Phe) | |
2 | g.48687849G>C | CA346743611 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1948C>G (p.Leu650Val) c.*260C>G (n.*260C>G) c.3441+16169G>C (n.3441+16169G>C) c.*692C>G (n.*692C>G) c.1867C>G (p.Leu623Val) c.276+16169G>C (n.276+16169G>C) c.*220+6375C>G (n.*220+6375C>G) c.991C>G (p.Leu331Val) c.1018C>G (p.Leu340Val) c.1873C>G (p.Leu625Val) c.1687C>G (p.Leu563Val) c.1606C>G (p.Leu536Val) c.1312C>G (p.Leu438Val) c.1693C>G (p.Leu565Val) | |
2 | g.48687849G= | CA1248600870 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1948C= (p.Leu650=) c.*260C= (n.*260C=) c.3441+16169G= (n.3441+16169G=) c.*692C= (n.*692C=) c.1867C= (p.Leu623=) c.276+16169G= (n.276+16169G=) c.*220+6375C= (n.*220+6375C=) c.991C= (p.Leu331=) c.1018C= (p.Leu340=) c.1873C= (p.Leu625=) c.1687C= (p.Leu563=) c.1606C= (p.Leu536=) c.1312C= (p.Leu438=) c.1693C= (p.Leu565=) | |
2 | g.48687849G>T | CA1652960 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1948C>A (p.Leu650Ile) c.*260C>A (n.*260C>A) c.3441+16169G>T (n.3441+16169G>T) c.*692C>A (n.*692C>A) c.1867C>A (p.Leu623Ile) c.276+16169G>T (n.276+16169G>T) c.*220+6375C>A (n.*220+6375C>A) c.991C>A (p.Leu331Ile) c.1018C>A (p.Leu340Ile) c.1873C>A (p.Leu625Ile) c.1687C>A (p.Leu563Ile) c.1606C>A (p.Leu536Ile) c.1312C>A (p.Leu438Ile) c.1693C>A (p.Leu565Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687849_48687850delinsGT | CA1248600871 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1947_1948delinsAC (p.Glu649=) c.*259_*260delinsAC (n.*259_*260delinsAC) c.3441+16169_3441+16170delinsGT (n.3441+16169_3441+16170delinsGT) c.*691_*692delinsAC (n.*691_*692delinsAC) c.1866_1867delinsAC (p.Glu622=) c.276+16169_276+16170delinsGT (n.276+16169_276+16170delinsGT) c.*220+6374_*220+6375delinsAC (n.*220+6374_*220+6375delinsAC) c.990_991delinsAC (p.Glu330=) c.1017_1018delinsAC (p.Glu339=) c.1872_1873delinsAC (p.Glu624=) c.1686_1687delinsAC (p.Glu562=) c.1605_1606delinsAC (p.Glu535=) c.1311_1312delinsAC (p.Glu437=) c.1692_1693delinsAC (p.Glu564=) | |
2 | g.48687850T>A | CA346743614 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1947A>T (p.Glu649Asp) c.*259A>T (n.*259A>T) c.3441+16170T>A (n.3441+16170T>A) c.*691A>T (n.*691A>T) c.1866A>T (p.Glu622Asp) c.276+16170T>A (n.276+16170T>A) c.*220+6374A>T (n.*220+6374A>T) c.990A>T (p.Glu330Asp) c.1017A>T (p.Glu339Asp) c.1872A>T (p.Glu624Asp) c.1686A>T (p.Glu562Asp) c.1605A>T (p.Glu535Asp) c.1311A>T (p.Glu437Asp) c.1692A>T (p.Glu564Asp) | |
2 | g.48687850T>C | CA426125167 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1947A>G (p.Glu649=) c.*259A>G (n.*259A>G) c.3441+16170T>C (n.3441+16170T>C) c.*691A>G (n.*691A>G) c.1866A>G (p.Glu622=) c.276+16170T>C (n.276+16170T>C) c.*220+6374A>G (n.*220+6374A>G) c.990A>G (p.Glu330=) c.1017A>G (p.Glu339=) c.1872A>G (p.Glu624=) c.1686A>G (p.Glu562=) c.1605A>G (p.Glu535=) c.1311A>G (p.Glu437=) c.1692A>G (p.Glu564=) | |
2 | g.48687850T>G | CA346743617 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1947A>C (p.Glu649Asp) c.*259A>C (n.*259A>C) c.3441+16170T>G (n.3441+16170T>G) c.*691A>C (n.*691A>C) c.1866A>C (p.Glu622Asp) c.276+16170T>G (n.276+16170T>G) c.*220+6374A>C (n.*220+6374A>C) c.990A>C (p.Glu330Asp) c.1017A>C (p.Glu339Asp) c.1872A>C (p.Glu624Asp) c.1686A>C (p.Glu562Asp) c.1605A>C (p.Glu535Asp) c.1311A>C (p.Glu437Asp) c.1692A>C (p.Glu564Asp) | |
2 | g.48687851del | CA532706157 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1947del (p.Glu649AspfsTer30) c.*259del (n.*259del) c.3441+16171del (n.3441+16171del) c.*691del (n.*691del) c.1866del (p.Glu622AspfsTer30) c.276+16171del (n.276+16171del) c.*220+6374del (n.*220+6374del) c.990del (p.Glu330AspfsTer30) c.1017del (p.Glu339AspfsTer30) c.1872del (p.Glu624AspfsTer30) c.1686del (p.Glu562AspfsTer30) c.1605del (p.Glu535AspfsTer30) c.1311del (p.Glu437AspfsTer30) c.1692del (p.Glu564AspfsTer30) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687851T>A | CA346743625 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1946A>T (p.Glu649Val) c.*258A>T (n.*258A>T) c.3441+16171T>A (n.3441+16171T>A) c.*690A>T (n.*690A>T) c.1865A>T (p.Glu622Val) c.276+16171T>A (n.276+16171T>A) c.*220+6373A>T (n.*220+6373A>T) c.989A>T (p.Glu330Val) c.1016A>T (p.Glu339Val) c.1871A>T (p.Glu624Val) c.1685A>T (p.Glu562Val) c.1604A>T (p.Glu535Val) c.1310A>T (p.Glu437Val) c.1691A>T (p.Glu564Val) | |
2 | g.48687851T>C | CA346743622 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1946A>G (p.Glu649Gly) c.*258A>G (n.*258A>G) c.3441+16171T>C (n.3441+16171T>C) c.*690A>G (n.*690A>G) c.1865A>G (p.Glu622Gly) c.276+16171T>C (n.276+16171T>C) c.*220+6373A>G (n.*220+6373A>G) c.989A>G (p.Glu330Gly) c.1016A>G (p.Glu339Gly) c.1871A>G (p.Glu624Gly) c.1685A>G (p.Glu562Gly) c.1604A>G (p.Glu535Gly) c.1310A>G (p.Glu437Gly) c.1691A>G (p.Glu564Gly) | |
2 | g.48687851T>G | CA346743620 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1946A>C (p.Glu649Ala) c.*258A>C (n.*258A>C) c.3441+16171T>G (n.3441+16171T>G) c.*690A>C (n.*690A>C) c.1865A>C (p.Glu622Ala) c.276+16171T>G (n.276+16171T>G) c.*220+6373A>C (n.*220+6373A>C) c.989A>C (p.Glu330Ala) c.1016A>C (p.Glu339Ala) c.1871A>C (p.Glu624Ala) c.1685A>C (p.Glu562Ala) c.1604A>C (p.Glu535Ala) c.1310A>C (p.Glu437Ala) c.1691A>C (p.Glu564Ala) | |
2 | g.48687852C>A | CA346743629 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1945G>T (p.Glu649Ter) c.*257G>T (n.*257G>T) c.3441+16172C>A (n.3441+16172C>A) c.*689G>T (n.*689G>T) c.1864G>T (p.Glu622Ter) c.276+16172C>A (n.276+16172C>A) c.*220+6372G>T (n.*220+6372G>T) c.988G>T (p.Glu330Ter) c.1015G>T (p.Glu339Ter) c.1870G>T (p.Glu624Ter) c.1684G>T (p.Glu562Ter) c.1603G>T (p.Glu535Ter) c.1309G>T (p.Glu437Ter) c.1690G>T (p.Glu564Ter) | |
2 | g.48687852C= | CA1248600872 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1945G= (p.Glu649=) c.*257G= (n.*257G=) c.3441+16172C= (n.3441+16172C=) c.*689G= (n.*689G=) c.1864G= (p.Glu622=) c.276+16172C= (n.276+16172C=) c.*220+6372G= (n.*220+6372G=) c.988G= (p.Glu330=) c.1015G= (p.Glu339=) c.1870G= (p.Glu624=) c.1684G= (p.Glu562=) c.1603G= (p.Glu535=) c.1309G= (p.Glu437=) c.1690G= (p.Glu564=) | |
2 | g.48687852C>G | CA346743632 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1945G>C (p.Glu649Gln) c.*257G>C (n.*257G>C) c.3441+16172C>G (n.3441+16172C>G) c.*689G>C (n.*689G>C) c.1864G>C (p.Glu622Gln) c.276+16172C>G (n.276+16172C>G) c.*220+6372G>C (n.*220+6372G>C) c.988G>C (p.Glu330Gln) c.1015G>C (p.Glu339Gln) c.1870G>C (p.Glu624Gln) c.1684G>C (p.Glu562Gln) c.1603G>C (p.Glu535Gln) c.1309G>C (p.Glu437Gln) c.1690G>C (p.Glu564Gln) | |
2 | g.48687852C>T | CA346743634 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1945G>A (p.Glu649Lys) c.*257G>A (n.*257G>A) c.3441+16172C>T (n.3441+16172C>T) c.*689G>A (n.*689G>A) c.1864G>A (p.Glu622Lys) c.276+16172C>T (n.276+16172C>T) c.*220+6372G>A (n.*220+6372G>A) c.988G>A (p.Glu330Lys) c.1015G>A (p.Glu339Lys) c.1870G>A (p.Glu624Lys) c.1684G>A (p.Glu562Lys) c.1603G>A (p.Glu535Lys) c.1309G>A (p.Glu437Lys) c.1690G>A (p.Glu564Lys) | dbSNP |
2 | g.48687853A>C | CA426125176 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1944T>G (p.Ala648=) c.*256T>G (n.*256T>G) c.3441+16173A>C (n.3441+16173A>C) c.*688T>G (n.*688T>G) c.1863T>G (p.Ala621=) c.276+16173A>C (n.276+16173A>C) c.*220+6371T>G (n.*220+6371T>G) c.987T>G (p.Ala329=) c.1014T>G (p.Ala338=) c.1869T>G (p.Ala623=) c.1683T>G (p.Ala561=) c.1602T>G (p.Ala534=) c.1308T>G (p.Ala436=) c.1689T>G (p.Ala563=) | |
2 | g.48687853A>G | CA426125177 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1944T>C (p.Ala648=) c.*256T>C (n.*256T>C) c.3441+16173A>G (n.3441+16173A>G) c.*688T>C (n.*688T>C) c.1863T>C (p.Ala621=) c.276+16173A>G (n.276+16173A>G) c.*220+6371T>C (n.*220+6371T>C) c.987T>C (p.Ala329=) c.1014T>C (p.Ala338=) c.1869T>C (p.Ala623=) c.1683T>C (p.Ala561=) c.1602T>C (p.Ala534=) c.1308T>C (p.Ala436=) c.1689T>C (p.Ala563=) | gnomAD v4 |
2 | g.48687853A>T | CA426125178 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1944T>A (p.Ala648=) c.*256T>A (n.*256T>A) c.3441+16173A>T (n.3441+16173A>T) c.*688T>A (n.*688T>A) c.1863T>A (p.Ala621=) c.276+16173A>T (n.276+16173A>T) c.*220+6371T>A (n.*220+6371T>A) c.987T>A (p.Ala329=) c.1014T>A (p.Ala338=) c.1869T>A (p.Ala623=) c.1683T>A (p.Ala561=) c.1602T>A (p.Ala534=) c.1308T>A (p.Ala436=) c.1689T>A (p.Ala563=) | |
2 | g.48687854G>A | CA346743636 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1943C>T (p.Ala648Val) c.*255C>T (n.*255C>T) c.3441+16174G>A (n.3441+16174G>A) c.*687C>T (n.*687C>T) c.1862C>T (p.Ala621Val) c.276+16174G>A (n.276+16174G>A) c.*220+6370C>T (n.*220+6370C>T) c.986C>T (p.Ala329Val) c.1013C>T (p.Ala338Val) c.1868C>T (p.Ala623Val) c.1682C>T (p.Ala561Val) c.1601C>T (p.Ala534Val) c.1307C>T (p.Ala436Val) c.1688C>T (p.Ala563Val) | |
2 | g.48687854G>C | CA346743639 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1943C>G (p.Ala648Gly) c.*255C>G (n.*255C>G) c.3441+16174G>C (n.3441+16174G>C) c.*687C>G (n.*687C>G) c.1862C>G (p.Ala621Gly) c.276+16174G>C (n.276+16174G>C) c.*220+6370C>G (n.*220+6370C>G) c.986C>G (p.Ala329Gly) c.1013C>G (p.Ala338Gly) c.1868C>G (p.Ala623Gly) c.1682C>G (p.Ala561Gly) c.1601C>G (p.Ala534Gly) c.1307C>G (p.Ala436Gly) c.1688C>G (p.Ala563Gly) | dbSNP gnomAD v4 |
2 | g.48687854G= | CA1248600873 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1943C= (p.Ala648=) c.*255C= (n.*255C=) c.3441+16174G= (n.3441+16174G=) c.*687C= (n.*687C=) c.1862C= (p.Ala621=) c.276+16174G= (n.276+16174G=) c.*220+6370C= (n.*220+6370C=) c.986C= (p.Ala329=) c.1013C= (p.Ala338=) c.1868C= (p.Ala623=) c.1682C= (p.Ala561=) c.1601C= (p.Ala534=) c.1307C= (p.Ala436=) c.1688C= (p.Ala563=) | |
2 | g.48687854G>T | CA1652961 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1943C>A (p.Ala648Asp) c.*255C>A (n.*255C>A) c.3441+16174G>T (n.3441+16174G>T) c.*687C>A (n.*687C>A) c.1862C>A (p.Ala621Asp) c.276+16174G>T (n.276+16174G>T) c.*220+6370C>A (n.*220+6370C>A) c.986C>A (p.Ala329Asp) c.1013C>A (p.Ala338Asp) c.1868C>A (p.Ala623Asp) c.1682C>A (p.Ala561Asp) c.1601C>A (p.Ala534Asp) c.1307C>A (p.Ala436Asp) c.1688C>A (p.Ala563Asp) | dbSNP ExAC gnomAD v2 |
2 | g.48687855C>A | CA346743643 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1942G>T (p.Ala648Ser) c.*254G>T (n.*254G>T) c.3441+16175C>A (n.3441+16175C>A) c.*686G>T (n.*686G>T) c.1861G>T (p.Ala621Ser) c.276+16175C>A (n.276+16175C>A) c.*220+6369G>T (n.*220+6369G>T) c.985G>T (p.Ala329Ser) c.1012G>T (p.Ala338Ser) c.1867G>T (p.Ala623Ser) c.1681G>T (p.Ala561Ser) c.1600G>T (p.Ala534Ser) c.1306G>T (p.Ala436Ser) c.1687G>T (p.Ala563Ser) | |
2 | g.48687855C>G | CA346743648 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1942G>C (p.Ala648Pro) c.*254G>C (n.*254G>C) c.3441+16175C>G (n.3441+16175C>G) c.*686G>C (n.*686G>C) c.1861G>C (p.Ala621Pro) c.276+16175C>G (n.276+16175C>G) c.*220+6369G>C (n.*220+6369G>C) c.985G>C (p.Ala329Pro) c.1012G>C (p.Ala338Pro) c.1867G>C (p.Ala623Pro) c.1681G>C (p.Ala561Pro) c.1600G>C (p.Ala534Pro) c.1306G>C (p.Ala436Pro) c.1687G>C (p.Ala563Pro) | |
2 | g.48687855C>T | CA346743645 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1942G>A (p.Ala648Thr) c.*254G>A (n.*254G>A) c.3441+16175C>T (n.3441+16175C>T) c.*686G>A (n.*686G>A) c.1861G>A (p.Ala621Thr) c.276+16175C>T (n.276+16175C>T) c.*220+6369G>A (n.*220+6369G>A) c.985G>A (p.Ala329Thr) c.1012G>A (p.Ala338Thr) c.1867G>A (p.Ala623Thr) c.1681G>A (p.Ala561Thr) c.1600G>A (p.Ala534Thr) c.1306G>A (p.Ala436Thr) c.1687G>A (p.Ala563Thr) | |
2 | g.48687856C>A | CA426125182 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1941G>T (p.Arg647=) c.*253G>T (n.*253G>T) c.3441+16176C>A (n.3441+16176C>A) c.*685G>T (n.*685G>T) c.1860G>T (p.Arg620=) c.276+16176C>A (n.276+16176C>A) c.*220+6368G>T (n.*220+6368G>T) c.984G>T (p.Arg328=) c.1011G>T (p.Arg337=) c.1866G>T (p.Arg622=) c.1680G>T (p.Arg560=) c.1599G>T (p.Arg533=) c.1305G>T (p.Arg435=) c.1686G>T (p.Arg562=) | |
2 | g.48687856C= | CA1248600874 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1941G= (p.Arg647=) c.*253G= (n.*253G=) c.3441+16176C= (n.3441+16176C=) c.*685G= (n.*685G=) c.1860G= (p.Arg620=) c.276+16176C= (n.276+16176C=) c.*220+6368G= (n.*220+6368G=) c.984G= (p.Arg328=) c.1011G= (p.Arg337=) c.1866G= (p.Arg622=) c.1680G= (p.Arg560=) c.1599G= (p.Arg533=) c.1305G= (p.Arg435=) c.1686G= (p.Arg562=) | |
2 | g.48687856C>G | CA426125184 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1941G>C (p.Arg647=) c.*253G>C (n.*253G>C) c.3441+16176C>G (n.3441+16176C>G) c.*685G>C (n.*685G>C) c.1860G>C (p.Arg620=) c.276+16176C>G (n.276+16176C>G) c.*220+6368G>C (n.*220+6368G>C) c.984G>C (p.Arg328=) c.1011G>C (p.Arg337=) c.1866G>C (p.Arg622=) c.1680G>C (p.Arg560=) c.1599G>C (p.Arg533=) c.1305G>C (p.Arg435=) c.1686G>C (p.Arg562=) | dbSNP |
2 | g.48687856C>T | CA426125185 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1941G>A (p.Arg647=) c.*253G>A (n.*253G>A) c.3441+16176C>T (n.3441+16176C>T) c.*685G>A (n.*685G>A) c.1860G>A (p.Arg620=) c.276+16176C>T (n.276+16176C>T) c.*220+6368G>A (n.*220+6368G>A) c.984G>A (p.Arg328=) c.1011G>A (p.Arg337=) c.1866G>A (p.Arg622=) c.1680G>A (p.Arg560=) c.1599G>A (p.Arg533=) c.1305G>A (p.Arg435=) c.1686G>A (p.Arg562=) | COSMIC |
2 | g.48687857C>A | CA346743651 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1940G>T (p.Arg647Leu) c.*252G>T (n.*252G>T) c.3441+16177C>A (n.3441+16177C>A) c.*684G>T (n.*684G>T) c.1859G>T (p.Arg620Leu) c.276+16177C>A (n.276+16177C>A) c.*220+6367G>T (n.*220+6367G>T) c.983G>T (p.Arg328Leu) c.1010G>T (p.Arg337Leu) c.1865G>T (p.Arg622Leu) c.1679G>T (p.Arg560Leu) c.1598G>T (p.Arg533Leu) c.1304G>T (p.Arg435Leu) c.1685G>T (p.Arg562Leu) | |
2 | g.48687857C= | CA1248600875 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1940G= (p.Arg647=) c.*252G= (n.*252G=) c.3441+16177C= (n.3441+16177C=) c.*684G= (n.*684G=) c.1859G= (p.Arg620=) c.276+16177C= (n.276+16177C=) c.*220+6367G= (n.*220+6367G=) c.983G= (p.Arg328=) c.1010G= (p.Arg337=) c.1865G= (p.Arg622=) c.1679G= (p.Arg560=) c.1598G= (p.Arg533=) c.1304G= (p.Arg435=) c.1685G= (p.Arg562=) | |
2 | g.48687857C>G | CA1652963 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1940G>C (p.Arg647Pro) c.*252G>C (n.*252G>C) c.3441+16177C>G (n.3441+16177C>G) c.*684G>C (n.*684G>C) c.1859G>C (p.Arg620Pro) c.276+16177C>G (n.276+16177C>G) c.*220+6367G>C (n.*220+6367G>C) c.983G>C (p.Arg328Pro) c.1010G>C (p.Arg337Pro) c.1865G>C (p.Arg622Pro) c.1679G>C (p.Arg560Pro) c.1598G>C (p.Arg533Pro) c.1304G>C (p.Arg435Pro) c.1685G>C (p.Arg562Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687857C>T | CA1652962 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1940G>A (p.Arg647Gln) c.*252G>A (n.*252G>A) c.3441+16177C>T (n.3441+16177C>T) c.*684G>A (n.*684G>A) c.1859G>A (p.Arg620Gln) c.276+16177C>T (n.276+16177C>T) c.*220+6367G>A (n.*220+6367G>A) c.983G>A (p.Arg328Gln) c.1010G>A (p.Arg337Gln) c.1865G>A (p.Arg622Gln) c.1679G>A (p.Arg560Gln) c.1598G>A (p.Arg533Gln) c.1304G>A (p.Arg435Gln) c.1685G>A (p.Arg562Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687858G>A | CA1652964 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1939C>T (p.Arg647Trp) c.*251C>T (n.*251C>T) c.3441+16178G>A (n.3441+16178G>A) c.*683C>T (n.*683C>T) c.1858C>T (p.Arg620Trp) c.276+16178G>A (n.276+16178G>A) c.*220+6366C>T (n.*220+6366C>T) c.982C>T (p.Arg328Trp) c.1009C>T (p.Arg337Trp) c.1864C>T (p.Arg622Trp) c.1678C>T (p.Arg560Trp) c.1597C>T (p.Arg533Trp) c.1303C>T (p.Arg435Trp) c.1684C>T (p.Arg562Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.48687858G>C | CA346743654 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1939C>G (p.Arg647Gly) c.*251C>G (n.*251C>G) c.3441+16178G>C (n.3441+16178G>C) c.*683C>G (n.*683C>G) c.1858C>G (p.Arg620Gly) c.276+16178G>C (n.276+16178G>C) c.*220+6366C>G (n.*220+6366C>G) c.982C>G (p.Arg328Gly) c.1009C>G (p.Arg337Gly) c.1864C>G (p.Arg622Gly) c.1678C>G (p.Arg560Gly) c.1597C>G (p.Arg533Gly) c.1303C>G (p.Arg435Gly) c.1684C>G (p.Arg562Gly) | |
2 | g.48687858G= | CA1248600876 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1939C= (p.Arg647=) c.*251C= (n.*251C=) c.3441+16178G= (n.3441+16178G=) c.*683C= (n.*683C=) c.1858C= (p.Arg620=) c.276+16178G= (n.276+16178G=) c.*220+6366C= (n.*220+6366C=) c.982C= (p.Arg328=) c.1009C= (p.Arg337=) c.1864C= (p.Arg622=) c.1678C= (p.Arg560=) c.1597C= (p.Arg533=) c.1303C= (p.Arg435=) c.1684C= (p.Arg562=) | |
2 | g.48687858G>T | CA426125191 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1939C>A (p.Arg647=) c.*251C>A (n.*251C>A) c.3441+16178G>T (n.3441+16178G>T) c.*683C>A (n.*683C>A) c.1858C>A (p.Arg620=) c.276+16178G>T (n.276+16178G>T) c.*220+6366C>A (n.*220+6366C>A) c.982C>A (p.Arg328=) c.1009C>A (p.Arg337=) c.1864C>A (p.Arg622=) c.1678C>A (p.Arg560=) c.1597C>A (p.Arg533=) c.1303C>A (p.Arg435=) c.1684C>A (p.Arg562=) | gnomAD v4 |
2 | g.48687859A= | CA1248600877 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1938T= (p.Arg646=) c.*250T= (n.*250T=) c.3441+16179A= (n.3441+16179A=) c.*682T= (n.*682T=) c.1857T= (p.Arg619=) c.276+16179A= (n.276+16179A=) c.*220+6365T= (n.*220+6365T=) c.981T= (p.Arg327=) c.1008T= (p.Arg336=) c.1863T= (p.Arg621=) c.1677T= (p.Arg559=) c.1596T= (p.Arg532=) c.1302T= (p.Arg434=) c.1683T= (p.Arg561=) | |
2 | g.48687859A>C | CA426125197 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1938T>G (p.Arg646=) c.*250T>G (n.*250T>G) c.3441+16179A>C (n.3441+16179A>C) c.*682T>G (n.*682T>G) c.1857T>G (p.Arg619=) c.276+16179A>C (n.276+16179A>C) c.*220+6365T>G (n.*220+6365T>G) c.981T>G (p.Arg327=) c.1008T>G (p.Arg336=) c.1863T>G (p.Arg621=) c.1677T>G (p.Arg559=) c.1596T>G (p.Arg532=) c.1302T>G (p.Arg434=) c.1683T>G (p.Arg561=) | |
2 | g.48687859A>G | CA426125194 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1938T>C (p.Arg646=) c.*250T>C (n.*250T>C) c.3441+16179A>G (n.3441+16179A>G) c.*682T>C (n.*682T>C) c.1857T>C (p.Arg619=) c.276+16179A>G (n.276+16179A>G) c.*220+6365T>C (n.*220+6365T>C) c.981T>C (p.Arg327=) c.1008T>C (p.Arg336=) c.1863T>C (p.Arg621=) c.1677T>C (p.Arg559=) c.1596T>C (p.Arg532=) c.1302T>C (p.Arg434=) c.1683T>C (p.Arg561=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687859A>T | CA426125195 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1938T>A (p.Arg646=) c.*250T>A (n.*250T>A) c.3441+16179A>T (n.3441+16179A>T) c.*682T>A (n.*682T>A) c.1857T>A (p.Arg619=) c.276+16179A>T (n.276+16179A>T) c.*220+6365T>A (n.*220+6365T>A) c.981T>A (p.Arg327=) c.1008T>A (p.Arg336=) c.1863T>A (p.Arg621=) c.1677T>A (p.Arg559=) c.1596T>A (p.Arg532=) c.1302T>A (p.Arg434=) c.1683T>A (p.Arg561=) | |
2 | g.48687860C>A | CA46752545 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1937G>T (p.Arg646Leu) c.*249G>T (n.*249G>T) c.3441+16180C>A (n.3441+16180C>A) c.*681G>T (n.*681G>T) c.1856G>T (p.Arg619Leu) c.276+16180C>A (n.276+16180C>A) c.*220+6364G>T (n.*220+6364G>T) c.980G>T (p.Arg327Leu) c.1007G>T (p.Arg336Leu) c.1862G>T (p.Arg621Leu) c.1676G>T (p.Arg559Leu) c.1595G>T (p.Arg532Leu) c.1301G>T (p.Arg434Leu) c.1682G>T (p.Arg561Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687860C= | CA1248600878 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1937G= (p.Arg646=) c.*249G= (n.*249G=) c.3441+16180C= (n.3441+16180C=) c.*681G= (n.*681G=) c.1856G= (p.Arg619=) c.276+16180C= (n.276+16180C=) c.*220+6364G= (n.*220+6364G=) c.980G= (p.Arg327=) c.1007G= (p.Arg336=) c.1862G= (p.Arg621=) c.1676G= (p.Arg559=) c.1595G= (p.Arg532=) c.1301G= (p.Arg434=) c.1682G= (p.Arg561=) | |
2 | g.48687860C>G | CA346743660 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1937G>C (p.Arg646Pro) c.*249G>C (n.*249G>C) c.3441+16180C>G (n.3441+16180C>G) c.*681G>C (n.*681G>C) c.1856G>C (p.Arg619Pro) c.276+16180C>G (n.276+16180C>G) c.*220+6364G>C (n.*220+6364G>C) c.980G>C (p.Arg327Pro) c.1007G>C (p.Arg336Pro) c.1862G>C (p.Arg621Pro) c.1676G>C (p.Arg559Pro) c.1595G>C (p.Arg532Pro) c.1301G>C (p.Arg434Pro) c.1682G>C (p.Arg561Pro) | |
2 | g.48687860C>T | CA1652965 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1937G>A (p.Arg646His) c.*249G>A (n.*249G>A) c.3441+16180C>T (n.3441+16180C>T) c.*681G>A (n.*681G>A) c.1856G>A (p.Arg619His) c.276+16180C>T (n.276+16180C>T) c.*220+6364G>A (n.*220+6364G>A) c.980G>A (p.Arg327His) c.1007G>A (p.Arg336His) c.1862G>A (p.Arg621His) c.1676G>A (p.Arg559His) c.1595G>A (p.Arg532His) c.1301G>A (p.Arg434His) c.1682G>A (p.Arg561His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687861G>A | CA1652966 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1936C>T (p.Arg646Cys) c.*248C>T (n.*248C>T) c.3441+16181G>A (n.3441+16181G>A) c.*680C>T (n.*680C>T) c.1855C>T (p.Arg619Cys) c.276+16181G>A (n.276+16181G>A) c.*220+6363C>T (n.*220+6363C>T) c.979C>T (p.Arg327Cys) c.1006C>T (p.Arg336Cys) c.1861C>T (p.Arg621Cys) c.1675C>T (p.Arg559Cys) c.1594C>T (p.Arg532Cys) c.1300C>T (p.Arg434Cys) c.1681C>T (p.Arg561Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687861G>C | CA346743664 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1936C>G (p.Arg646Gly) c.*248C>G (n.*248C>G) c.3441+16181G>C (n.3441+16181G>C) c.*680C>G (n.*680C>G) c.1855C>G (p.Arg619Gly) c.276+16181G>C (n.276+16181G>C) c.*220+6363C>G (n.*220+6363C>G) c.979C>G (p.Arg327Gly) c.1006C>G (p.Arg336Gly) c.1861C>G (p.Arg621Gly) c.1675C>G (p.Arg559Gly) c.1594C>G (p.Arg532Gly) c.1300C>G (p.Arg434Gly) c.1681C>G (p.Arg561Gly) | |
2 | g.48687861G= | CA1248600879 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1936C= (p.Arg646=) c.*248C= (n.*248C=) c.3441+16181G= (n.3441+16181G=) c.*680C= (n.*680C=) c.1855C= (p.Arg619=) c.276+16181G= (n.276+16181G=) c.*220+6363C= (n.*220+6363C=) c.979C= (p.Arg327=) c.1006C= (p.Arg336=) c.1861C= (p.Arg621=) c.1675C= (p.Arg559=) c.1594C= (p.Arg532=) c.1300C= (p.Arg434=) c.1681C= (p.Arg561=) | |
2 | g.48687861G>T | CA346743666 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1936C>A (p.Arg646Ser) c.*248C>A (n.*248C>A) c.3441+16181G>T (n.3441+16181G>T) c.*680C>A (n.*680C>A) c.1855C>A (p.Arg619Ser) c.276+16181G>T (n.276+16181G>T) c.*220+6363C>A (n.*220+6363C>A) c.979C>A (p.Arg327Ser) c.1006C>A (p.Arg336Ser) c.1861C>A (p.Arg621Ser) c.1675C>A (p.Arg559Ser) c.1594C>A (p.Arg532Ser) c.1300C>A (p.Arg434Ser) c.1681C>A (p.Arg561Ser) | |
2 | g.48687862T>A | CA346743671 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1935A>T (p.Lys645Asn) c.*247A>T (n.*247A>T) c.3441+16182T>A (n.3441+16182T>A) c.*679A>T (n.*679A>T) c.1854A>T (p.Lys618Asn) c.276+16182T>A (n.276+16182T>A) c.*220+6362A>T (n.*220+6362A>T) c.978A>T (p.Lys326Asn) c.1005A>T (p.Lys335Asn) c.1860A>T (p.Lys620Asn) c.1674A>T (p.Lys558Asn) c.1593A>T (p.Lys531Asn) c.1299A>T (p.Lys433Asn) c.1680A>T (p.Lys560Asn) | |
2 | g.48687862T>C | CA426125208 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1935A>G (p.Lys645=) c.*247A>G (n.*247A>G) c.3441+16182T>C (n.3441+16182T>C) c.*679A>G (n.*679A>G) c.1854A>G (p.Lys618=) c.276+16182T>C (n.276+16182T>C) c.*220+6362A>G (n.*220+6362A>G) c.978A>G (p.Lys326=) c.1005A>G (p.Lys335=) c.1860A>G (p.Lys620=) c.1674A>G (p.Lys558=) c.1593A>G (p.Lys531=) c.1299A>G (p.Lys433=) c.1680A>G (p.Lys560=) | |
2 | g.48687862T>G | CA346743669 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1935A>C (p.Lys645Asn) c.*247A>C (n.*247A>C) c.3441+16182T>G (n.3441+16182T>G) c.*679A>C (n.*679A>C) c.1854A>C (p.Lys618Asn) c.276+16182T>G (n.276+16182T>G) c.*220+6362A>C (n.*220+6362A>C) c.978A>C (p.Lys326Asn) c.1005A>C (p.Lys335Asn) c.1860A>C (p.Lys620Asn) c.1674A>C (p.Lys558Asn) c.1593A>C (p.Lys531Asn) c.1299A>C (p.Lys433Asn) c.1680A>C (p.Lys560Asn) | |
2 | g.48687863T>A | CA346743673 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1934A>T (p.Lys645Ile) c.*246A>T (n.*246A>T) c.3441+16183T>A (n.3441+16183T>A) c.*678A>T (n.*678A>T) c.1853A>T (p.Lys618Ile) c.276+16183T>A (n.276+16183T>A) c.*220+6361A>T (n.*220+6361A>T) c.977A>T (p.Lys326Ile) c.1004A>T (p.Lys335Ile) c.1859A>T (p.Lys620Ile) c.1673A>T (p.Lys558Ile) c.1592A>T (p.Lys531Ile) c.1298A>T (p.Lys433Ile) c.1679A>T (p.Lys560Ile) | |
2 | g.48687863T>C | CA346743677 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1934A>G (p.Lys645Arg) c.*246A>G (n.*246A>G) c.3441+16183T>C (n.3441+16183T>C) c.*678A>G (n.*678A>G) c.1853A>G (p.Lys618Arg) c.276+16183T>C (n.276+16183T>C) c.*220+6361A>G (n.*220+6361A>G) c.977A>G (p.Lys326Arg) c.1004A>G (p.Lys335Arg) c.1859A>G (p.Lys620Arg) c.1673A>G (p.Lys558Arg) c.1592A>G (p.Lys531Arg) c.1298A>G (p.Lys433Arg) c.1679A>G (p.Lys560Arg) | |
2 | g.48687863T>G | CA346743675 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1934A>C (p.Lys645Thr) c.*246A>C (n.*246A>C) c.3441+16183T>G (n.3441+16183T>G) c.*678A>C (n.*678A>C) c.1853A>C (p.Lys618Thr) c.276+16183T>G (n.276+16183T>G) c.*220+6361A>C (n.*220+6361A>C) c.977A>C (p.Lys326Thr) c.1004A>C (p.Lys335Thr) c.1859A>C (p.Lys620Thr) c.1673A>C (p.Lys558Thr) c.1592A>C (p.Lys531Thr) c.1298A>C (p.Lys433Thr) c.1679A>C (p.Lys560Thr) | |
2 | g.48687864T>A | CA346743679 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1933A>T (p.Lys645Ter) c.*245A>T (n.*245A>T) c.3441+16184T>A (n.3441+16184T>A) c.*677A>T (n.*677A>T) c.1852A>T (p.Lys618Ter) c.276+16184T>A (n.276+16184T>A) c.*220+6360A>T (n.*220+6360A>T) c.976A>T (p.Lys326Ter) c.1003A>T (p.Lys335Ter) c.1858A>T (p.Lys620Ter) c.1672A>T (p.Lys558Ter) c.1591A>T (p.Lys531Ter) c.1297A>T (p.Lys433Ter) c.1678A>T (p.Lys560Ter) | |
2 | g.48687864T>C | CA346743684 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1933A>G (p.Lys645Glu) c.*245A>G (n.*245A>G) c.3441+16184T>C (n.3441+16184T>C) c.*677A>G (n.*677A>G) c.1852A>G (p.Lys618Glu) c.276+16184T>C (n.276+16184T>C) c.*220+6360A>G (n.*220+6360A>G) c.976A>G (p.Lys326Glu) c.1003A>G (p.Lys335Glu) c.1858A>G (p.Lys620Glu) c.1672A>G (p.Lys558Glu) c.1591A>G (p.Lys531Glu) c.1297A>G (p.Lys433Glu) c.1678A>G (p.Lys560Glu) | |
2 | g.48687864T>G | CA346743681 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1933A>C (p.Lys645Gln) c.*245A>C (n.*245A>C) c.3441+16184T>G (n.3441+16184T>G) c.*677A>C (n.*677A>C) c.1852A>C (p.Lys618Gln) c.276+16184T>G (n.276+16184T>G) c.*220+6360A>C (n.*220+6360A>C) c.976A>C (p.Lys326Gln) c.1003A>C (p.Lys335Gln) c.1858A>C (p.Lys620Gln) c.1672A>C (p.Lys558Gln) c.1591A>C (p.Lys531Gln) c.1297A>C (p.Lys433Gln) c.1678A>C (p.Lys560Gln) | gnomAD v4 |
2 | g.48687865A>C | CA346743686 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1932T>G (p.Cys644Trp) c.*244T>G (n.*244T>G) c.3441+16185A>C (n.3441+16185A>C) c.*676T>G (n.*676T>G) c.1851T>G (p.Cys617Trp) c.276+16185A>C (n.276+16185A>C) c.*220+6359T>G (n.*220+6359T>G) c.975T>G (p.Cys325Trp) c.1002T>G (p.Cys334Trp) c.1857T>G (p.Cys619Trp) c.1671T>G (p.Cys557Trp) c.1590T>G (p.Cys530Trp) c.1296T>G (p.Cys432Trp) c.1677T>G (p.Cys559Trp) | |
2 | g.48687865A>G | CA426125210 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1932T>C (p.Cys644=) c.*244T>C (n.*244T>C) c.3441+16185A>G (n.3441+16185A>G) c.*676T>C (n.*676T>C) c.1851T>C (p.Cys617=) c.276+16185A>G (n.276+16185A>G) c.*220+6359T>C (n.*220+6359T>C) c.975T>C (p.Cys325=) c.1002T>C (p.Cys334=) c.1857T>C (p.Cys619=) c.1671T>C (p.Cys557=) c.1590T>C (p.Cys530=) c.1296T>C (p.Cys432=) c.1677T>C (p.Cys559=) | |
2 | g.48687865A>T | CA346743687 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1932T>A (p.Cys644Ter) c.*244T>A (n.*244T>A) c.3441+16185A>T (n.3441+16185A>T) c.*676T>A (n.*676T>A) c.1851T>A (p.Cys617Ter) c.276+16185A>T (n.276+16185A>T) c.*220+6359T>A (n.*220+6359T>A) c.975T>A (p.Cys325Ter) c.1002T>A (p.Cys334Ter) c.1857T>A (p.Cys619Ter) c.1671T>A (p.Cys557Ter) c.1590T>A (p.Cys530Ter) c.1296T>A (p.Cys432Ter) c.1677T>A (p.Cys559Ter) | |
2 | g.48687866C>A | CA346743691 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1931G>T (p.Cys644Phe) c.*243G>T (n.*243G>T) c.3441+16186C>A (n.3441+16186C>A) c.*675G>T (n.*675G>T) c.1850G>T (p.Cys617Phe) c.276+16186C>A (n.276+16186C>A) c.*220+6358G>T (n.*220+6358G>T) c.974G>T (p.Cys325Phe) c.1001G>T (p.Cys334Phe) c.1856G>T (p.Cys619Phe) c.1670G>T (p.Cys557Phe) c.1589G>T (p.Cys530Phe) c.1295G>T (p.Cys432Phe) c.1676G>T (p.Cys559Phe) | gnomAD v4 |
2 | g.48687866C= | CA1248600880 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1931G= (p.Cys644=) c.*243G= (n.*243G=) c.3441+16186C= (n.3441+16186C=) c.*675G= (n.*675G=) c.1850G= (p.Cys617=) c.276+16186C= (n.276+16186C=) c.*220+6358G= (n.*220+6358G=) c.974G= (p.Cys325=) c.1001G= (p.Cys334=) c.1856G= (p.Cys619=) c.1670G= (p.Cys557=) c.1589G= (p.Cys530=) c.1295G= (p.Cys432=) c.1676G= (p.Cys559=) | |
2 | g.48687866C>G | CA346743694 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1931G>C (p.Cys644Ser) c.*243G>C (n.*243G>C) c.3441+16186C>G (n.3441+16186C>G) c.*675G>C (n.*675G>C) c.1850G>C (p.Cys617Ser) c.276+16186C>G (n.276+16186C>G) c.*220+6358G>C (n.*220+6358G>C) c.974G>C (p.Cys325Ser) c.1001G>C (p.Cys334Ser) c.1856G>C (p.Cys619Ser) c.1670G>C (p.Cys557Ser) c.1589G>C (p.Cys530Ser) c.1295G>C (p.Cys432Ser) c.1676G>C (p.Cys559Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687866C>T | CA346743696 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1931G>A (p.Cys644Tyr) c.*243G>A (n.*243G>A) c.3441+16186C>T (n.3441+16186C>T) c.*675G>A (n.*675G>A) c.1850G>A (p.Cys617Tyr) c.276+16186C>T (n.276+16186C>T) c.*220+6358G>A (n.*220+6358G>A) c.974G>A (p.Cys325Tyr) c.1001G>A (p.Cys334Tyr) c.1856G>A (p.Cys619Tyr) c.1670G>A (p.Cys557Tyr) c.1589G>A (p.Cys530Tyr) c.1295G>A (p.Cys432Tyr) c.1676G>A (p.Cys559Tyr) | gnomAD v4 |
2 | g.48687867A= | CA1248600881 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1930T= (p.Cys644=) c.*242T= (n.*242T=) c.3441+16187A= (n.3441+16187A=) c.*674T= (n.*674T=) c.1849T= (p.Cys617=) c.276+16187A= (n.276+16187A=) c.*220+6357T= (n.*220+6357T=) c.973T= (p.Cys325=) c.1000T= (p.Cys334=) c.1855T= (p.Cys619=) c.1669T= (p.Cys557=) c.1588T= (p.Cys530=) c.1294T= (p.Cys432=) c.1675T= (p.Cys559=) | |
2 | g.48687867A>C | CA346743698 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1930T>G (p.Cys644Gly) c.*242T>G (n.*242T>G) c.3441+16187A>C (n.3441+16187A>C) c.*674T>G (n.*674T>G) c.1849T>G (p.Cys617Gly) c.276+16187A>C (n.276+16187A>C) c.*220+6357T>G (n.*220+6357T>G) c.973T>G (p.Cys325Gly) c.1000T>G (p.Cys334Gly) c.1855T>G (p.Cys619Gly) c.1669T>G (p.Cys557Gly) c.1588T>G (p.Cys530Gly) c.1294T>G (p.Cys432Gly) c.1675T>G (p.Cys559Gly) | COSMIC |
2 | g.48687867A>G | CA1652967 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1930T>C (p.Cys644Arg) c.*242T>C (n.*242T>C) c.3441+16187A>G (n.3441+16187A>G) c.*674T>C (n.*674T>C) c.1849T>C (p.Cys617Arg) c.276+16187A>G (n.276+16187A>G) c.*220+6357T>C (n.*220+6357T>C) c.973T>C (p.Cys325Arg) c.1000T>C (p.Cys334Arg) c.1855T>C (p.Cys619Arg) c.1669T>C (p.Cys557Arg) c.1588T>C (p.Cys530Arg) c.1294T>C (p.Cys432Arg) c.1675T>C (p.Cys559Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687867A>T | CA346743701 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1930T>A (p.Cys644Ser) c.*242T>A (n.*242T>A) c.3441+16187A>T (n.3441+16187A>T) c.*674T>A (n.*674T>A) c.1849T>A (p.Cys617Ser) c.276+16187A>T (n.276+16187A>T) c.*220+6357T>A (n.*220+6357T>A) c.973T>A (p.Cys325Ser) c.1000T>A (p.Cys334Ser) c.1855T>A (p.Cys619Ser) c.1669T>A (p.Cys557Ser) c.1588T>A (p.Cys530Ser) c.1294T>A (p.Cys432Ser) c.1675T>A (p.Cys559Ser) | |
2 | g.48687868G>A | CA426125219 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1929C>T (p.Cys643=) c.*241C>T (n.*241C>T) c.3441+16188G>A (n.3441+16188G>A) c.*673C>T (n.*673C>T) c.1848C>T (p.Cys616=) c.276+16188G>A (n.276+16188G>A) c.*220+6356C>T (n.*220+6356C>T) c.972C>T (p.Cys324=) c.999C>T (p.Cys333=) c.1854C>T (p.Cys618=) c.1668C>T (p.Cys556=) c.1587C>T (p.Cys529=) c.1293C>T (p.Cys431=) c.1674C>T (p.Cys558=) | |
2 | g.48687868G>C | CA346743704 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1929C>G (p.Cys643Trp) c.*241C>G (n.*241C>G) c.3441+16188G>C (n.3441+16188G>C) c.*673C>G (n.*673C>G) c.1848C>G (p.Cys616Trp) c.276+16188G>C (n.276+16188G>C) c.*220+6356C>G (n.*220+6356C>G) c.972C>G (p.Cys324Trp) c.999C>G (p.Cys333Trp) c.1854C>G (p.Cys618Trp) c.1668C>G (p.Cys556Trp) c.1587C>G (p.Cys529Trp) c.1293C>G (p.Cys431Trp) c.1674C>G (p.Cys558Trp) | gnomAD v4 |
2 | g.48687868G>T | CA346743706 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1929C>A (p.Cys643Ter) c.*241C>A (n.*241C>A) c.3441+16188G>T (n.3441+16188G>T) c.*673C>A (n.*673C>A) c.1848C>A (p.Cys616Ter) c.276+16188G>T (n.276+16188G>T) c.*220+6356C>A (n.*220+6356C>A) c.972C>A (p.Cys324Ter) c.999C>A (p.Cys333Ter) c.1854C>A (p.Cys618Ter) c.1668C>A (p.Cys556Ter) c.1587C>A (p.Cys529Ter) c.1293C>A (p.Cys431Ter) c.1674C>A (p.Cys558Ter) | COSMIC |
2 | g.48687869C>A | CA346743709 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1928G>T (p.Cys643Phe) c.*240G>T (n.*240G>T) c.3441+16189C>A (n.3441+16189C>A) c.*672G>T (n.*672G>T) c.1847G>T (p.Cys616Phe) c.276+16189C>A (n.276+16189C>A) c.*220+6355G>T (n.*220+6355G>T) c.971G>T (p.Cys324Phe) c.998G>T (p.Cys333Phe) c.1853G>T (p.Cys618Phe) c.1667G>T (p.Cys556Phe) c.1586G>T (p.Cys529Phe) c.1292G>T (p.Cys431Phe) c.1673G>T (p.Cys558Phe) | |
2 | g.48687869C= | CA1248600882 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1928G= (p.Cys643=) c.*240G= (n.*240G=) c.3441+16189C= (n.3441+16189C=) c.*672G= (n.*672G=) c.1847G= (p.Cys616=) c.276+16189C= (n.276+16189C=) c.*220+6355G= (n.*220+6355G=) c.971G= (p.Cys324=) c.998G= (p.Cys333=) c.1853G= (p.Cys618=) c.1667G= (p.Cys556=) c.1586G= (p.Cys529=) c.1292G= (p.Cys431=) c.1673G= (p.Cys558=) | |
2 | g.48687869C>G | CA346743712 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1928G>C (p.Cys643Ser) c.*240G>C (n.*240G>C) c.3441+16189C>G (n.3441+16189C>G) c.*672G>C (n.*672G>C) c.1847G>C (p.Cys616Ser) c.276+16189C>G (n.276+16189C>G) c.*220+6355G>C (n.*220+6355G>C) c.971G>C (p.Cys324Ser) c.998G>C (p.Cys333Ser) c.1853G>C (p.Cys618Ser) c.1667G>C (p.Cys556Ser) c.1586G>C (p.Cys529Ser) c.1292G>C (p.Cys431Ser) c.1673G>C (p.Cys558Ser) | |
2 | g.48687869C>T | CA346743714 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1928G>A (p.Cys643Tyr) c.*240G>A (n.*240G>A) c.3441+16189C>T (n.3441+16189C>T) c.*672G>A (n.*672G>A) c.1847G>A (p.Cys616Tyr) c.276+16189C>T (n.276+16189C>T) c.*220+6355G>A (n.*220+6355G>A) c.971G>A (p.Cys324Tyr) c.998G>A (p.Cys333Tyr) c.1853G>A (p.Cys618Tyr) c.1667G>A (p.Cys556Tyr) c.1586G>A (p.Cys529Tyr) c.1292G>A (p.Cys431Tyr) c.1673G>A (p.Cys558Tyr) | dbSNP gnomAD v4 |
2 | g.48687870A>C | CA346743720 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1927T>G (p.Cys643Gly) c.*239T>G (n.*239T>G) c.3441+16190A>C (n.3441+16190A>C) c.*671T>G (n.*671T>G) c.1846T>G (p.Cys616Gly) c.276+16190A>C (n.276+16190A>C) c.*220+6354T>G (n.*220+6354T>G) c.970T>G (p.Cys324Gly) c.997T>G (p.Cys333Gly) c.1852T>G (p.Cys618Gly) c.1666T>G (p.Cys556Gly) c.1585T>G (p.Cys529Gly) c.1291T>G (p.Cys431Gly) c.1672T>G (p.Cys558Gly) | |
2 | g.48687870A>G | CA346743716 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1927T>C (p.Cys643Arg) c.*239T>C (n.*239T>C) c.3441+16190A>G (n.3441+16190A>G) c.*671T>C (n.*671T>C) c.1846T>C (p.Cys616Arg) c.276+16190A>G (n.276+16190A>G) c.*220+6354T>C (n.*220+6354T>C) c.970T>C (p.Cys324Arg) c.997T>C (p.Cys333Arg) c.1852T>C (p.Cys618Arg) c.1666T>C (p.Cys556Arg) c.1585T>C (p.Cys529Arg) c.1291T>C (p.Cys431Arg) c.1672T>C (p.Cys558Arg) | |
2 | g.48687870A>T | CA346743718 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1927T>A (p.Cys643Ser) c.*239T>A (n.*239T>A) c.3441+16190A>T (n.3441+16190A>T) c.*671T>A (n.*671T>A) c.1846T>A (p.Cys616Ser) c.276+16190A>T (n.276+16190A>T) c.*220+6354T>A (n.*220+6354T>A) c.970T>A (p.Cys324Ser) c.997T>A (p.Cys333Ser) c.1852T>A (p.Cys618Ser) c.1666T>A (p.Cys556Ser) c.1585T>A (p.Cys529Ser) c.1291T>A (p.Cys431Ser) c.1672T>A (p.Cys558Ser) | |
2 | g.48687871G>A | CA426125221 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1926C>T (p.Gly642=) c.*238C>T (n.*238C>T) c.3441+16191G>A (n.3441+16191G>A) c.*670C>T (n.*670C>T) c.1845C>T (p.Gly615=) c.276+16191G>A (n.276+16191G>A) c.*220+6353C>T (n.*220+6353C>T) c.969C>T (p.Gly323=) c.996C>T (p.Gly332=) c.1851C>T (p.Gly617=) c.1665C>T (p.Gly555=) c.1584C>T (p.Gly528=) c.1290C>T (p.Gly430=) c.1671C>T (p.Gly557=) | gnomAD v4 |
2 | g.48687871G>C | CA426125222 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1926C>G (p.Gly642=) c.*238C>G (n.*238C>G) c.3441+16191G>C (n.3441+16191G>C) c.*670C>G (n.*670C>G) c.1845C>G (p.Gly615=) c.276+16191G>C (n.276+16191G>C) c.*220+6353C>G (n.*220+6353C>G) c.969C>G (p.Gly323=) c.996C>G (p.Gly332=) c.1851C>G (p.Gly617=) c.1665C>G (p.Gly555=) c.1584C>G (p.Gly528=) c.1290C>G (p.Gly430=) c.1671C>G (p.Gly557=) | |
2 | g.48687871G>T | CA426125224 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1926C>A (p.Gly642=) c.*238C>A (n.*238C>A) c.3441+16191G>T (n.3441+16191G>T) c.*670C>A (n.*670C>A) c.1845C>A (p.Gly615=) c.276+16191G>T (n.276+16191G>T) c.*220+6353C>A (n.*220+6353C>A) c.969C>A (p.Gly323=) c.996C>A (p.Gly332=) c.1851C>A (p.Gly617=) c.1665C>A (p.Gly555=) c.1584C>A (p.Gly528=) c.1290C>A (p.Gly430=) c.1671C>A (p.Gly557=) | |
2 | g.48687872C>A | CA346743723 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1925G>T (p.Gly642Val) c.*237G>T (n.*237G>T) c.3441+16192C>A (n.3441+16192C>A) c.*669G>T (n.*669G>T) c.1844G>T (p.Gly615Val) c.276+16192C>A (n.276+16192C>A) c.*220+6352G>T (n.*220+6352G>T) c.968G>T (p.Gly323Val) c.995G>T (p.Gly332Val) c.1850G>T (p.Gly617Val) c.1664G>T (p.Gly555Val) c.1583G>T (p.Gly528Val) c.1289G>T (p.Gly430Val) c.1670G>T (p.Gly557Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687872C= | CA1248600883 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1925G= (p.Gly642=) c.*237G= (n.*237G=) c.3441+16192C= (n.3441+16192C=) c.*669G= (n.*669G=) c.1844G= (p.Gly615=) c.276+16192C= (n.276+16192C=) c.*220+6352G= (n.*220+6352G=) c.968G= (p.Gly323=) c.995G= (p.Gly332=) c.1850G= (p.Gly617=) c.1664G= (p.Gly555=) c.1583G= (p.Gly528=) c.1289G= (p.Gly430=) c.1670G= (p.Gly557=) | |
2 | g.48687872C>G | CA346743724 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1925G>C (p.Gly642Ala) c.*237G>C (n.*237G>C) c.3441+16192C>G (n.3441+16192C>G) c.*669G>C (n.*669G>C) c.1844G>C (p.Gly615Ala) c.276+16192C>G (n.276+16192C>G) c.*220+6352G>C (n.*220+6352G>C) c.968G>C (p.Gly323Ala) c.995G>C (p.Gly332Ala) c.1850G>C (p.Gly617Ala) c.1664G>C (p.Gly555Ala) c.1583G>C (p.Gly528Ala) c.1289G>C (p.Gly430Ala) c.1670G>C (p.Gly557Ala) | |
2 | g.48687872C>T | CA346743728 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1925G>A (p.Gly642Asp) c.*237G>A (n.*237G>A) c.3441+16192C>T (n.3441+16192C>T) c.*669G>A (n.*669G>A) c.1844G>A (p.Gly615Asp) c.276+16192C>T (n.276+16192C>T) c.*220+6352G>A (n.*220+6352G>A) c.968G>A (p.Gly323Asp) c.995G>A (p.Gly332Asp) c.1850G>A (p.Gly617Asp) c.1664G>A (p.Gly555Asp) c.1583G>A (p.Gly528Asp) c.1289G>A (p.Gly430Asp) c.1670G>A (p.Gly557Asp) | COSMIC |
2 | g.48687873C>A | CA346743730 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1924G>T (p.Gly642Cys) c.*236G>T (n.*236G>T) c.3441+16193C>A (n.3441+16193C>A) c.*668G>T (n.*668G>T) c.1843G>T (p.Gly615Cys) c.276+16193C>A (n.276+16193C>A) c.*220+6351G>T (n.*220+6351G>T) c.967G>T (p.Gly323Cys) c.994G>T (p.Gly332Cys) c.1849G>T (p.Gly617Cys) c.1663G>T (p.Gly555Cys) c.1582G>T (p.Gly528Cys) c.1288G>T (p.Gly430Cys) c.1669G>T (p.Gly557Cys) | |
2 | g.48687873C= | CA1248600884 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1924G= (p.Gly642=) c.*236G= (n.*236G=) c.3441+16193C= (n.3441+16193C=) c.*668G= (n.*668G=) c.1843G= (p.Gly615=) c.276+16193C= (n.276+16193C=) c.*220+6351G= (n.*220+6351G=) c.967G= (p.Gly323=) c.994G= (p.Gly332=) c.1849G= (p.Gly617=) c.1663G= (p.Gly555=) c.1582G= (p.Gly528=) c.1288G= (p.Gly430=) c.1669G= (p.Gly557=) | |
2 | g.48687873C>G | CA346743732 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1924G>C (p.Gly642Arg) c.*236G>C (n.*236G>C) c.3441+16193C>G (n.3441+16193C>G) c.*668G>C (n.*668G>C) c.1843G>C (p.Gly615Arg) c.276+16193C>G (n.276+16193C>G) c.*220+6351G>C (n.*220+6351G>C) c.967G>C (p.Gly323Arg) c.994G>C (p.Gly332Arg) c.1849G>C (p.Gly617Arg) c.1663G>C (p.Gly555Arg) c.1582G>C (p.Gly528Arg) c.1288G>C (p.Gly430Arg) c.1669G>C (p.Gly557Arg) | |
2 | g.48687873C>T | CA346743735 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1924G>A (p.Gly642Ser) c.*236G>A (n.*236G>A) c.3441+16193C>T (n.3441+16193C>T) c.*668G>A (n.*668G>A) c.1843G>A (p.Gly615Ser) c.276+16193C>T (n.276+16193C>T) c.*220+6351G>A (n.*220+6351G>A) c.967G>A (p.Gly323Ser) c.994G>A (p.Gly332Ser) c.1849G>A (p.Gly617Ser) c.1663G>A (p.Gly555Ser) c.1582G>A (p.Gly528Ser) c.1288G>A (p.Gly430Ser) c.1669G>A (p.Gly557Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687874A>C | CA346743738 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1923T>G (p.Phe641Leu) c.*235T>G (n.*235T>G) c.3441+16194A>C (n.3441+16194A>C) c.*667T>G (n.*667T>G) c.1842T>G (p.Phe614Leu) c.276+16194A>C (n.276+16194A>C) c.*220+6350T>G (n.*220+6350T>G) c.966T>G (p.Phe322Leu) c.993T>G (p.Phe331Leu) c.1848T>G (p.Phe616Leu) c.1662T>G (p.Phe554Leu) c.1581T>G (p.Phe527Leu) c.1287T>G (p.Phe429Leu) c.1668T>G (p.Phe556Leu) | |
2 | g.48687874A>G | CA426125235 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1923T>C (p.Phe641=) c.*235T>C (n.*235T>C) c.3441+16194A>G (n.3441+16194A>G) c.*667T>C (n.*667T>C) c.1842T>C (p.Phe614=) c.276+16194A>G (n.276+16194A>G) c.*220+6350T>C (n.*220+6350T>C) c.966T>C (p.Phe322=) c.993T>C (p.Phe331=) c.1848T>C (p.Phe616=) c.1662T>C (p.Phe554=) c.1581T>C (p.Phe527=) c.1287T>C (p.Phe429=) c.1668T>C (p.Phe556=) | gnomAD v4 |
2 | g.48687874A>T | CA346743739 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1923T>A (p.Phe641Leu) c.*235T>A (n.*235T>A) c.3441+16194A>T (n.3441+16194A>T) c.*667T>A (n.*667T>A) c.1842T>A (p.Phe614Leu) c.276+16194A>T (n.276+16194A>T) c.*220+6350T>A (n.*220+6350T>A) c.966T>A (p.Phe322Leu) c.993T>A (p.Phe331Leu) c.1848T>A (p.Phe616Leu) c.1662T>A (p.Phe554Leu) c.1581T>A (p.Phe527Leu) c.1287T>A (p.Phe429Leu) c.1668T>A (p.Phe556Leu) | |
2 | g.48687875A= | CA1248600885 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1922T= (p.Phe641=) c.*234T= (n.*234T=) c.3441+16195A= (n.3441+16195A=) c.*666T= (n.*666T=) c.1841T= (p.Phe614=) c.276+16195A= (n.276+16195A=) c.*220+6349T= (n.*220+6349T=) c.965T= (p.Phe322=) c.992T= (p.Phe331=) c.1847T= (p.Phe616=) c.1661T= (p.Phe554=) c.1580T= (p.Phe527=) c.1286T= (p.Phe429=) c.1667T= (p.Phe556=) | |
2 | g.48687875A>C | CA1652968 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1922T>G (p.Phe641Cys) c.*234T>G (n.*234T>G) c.3441+16195A>C (n.3441+16195A>C) c.*666T>G (n.*666T>G) c.1841T>G (p.Phe614Cys) c.276+16195A>C (n.276+16195A>C) c.*220+6349T>G (n.*220+6349T>G) c.965T>G (p.Phe322Cys) c.992T>G (p.Phe331Cys) c.1847T>G (p.Phe616Cys) c.1661T>G (p.Phe554Cys) c.1580T>G (p.Phe527Cys) c.1286T>G (p.Phe429Cys) c.1667T>G (p.Phe556Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.48687875A>G | CA346743743 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1922T>C (p.Phe641Ser) c.*234T>C (n.*234T>C) c.3441+16195A>G (n.3441+16195A>G) c.*666T>C (n.*666T>C) c.1841T>C (p.Phe614Ser) c.276+16195A>G (n.276+16195A>G) c.*220+6349T>C (n.*220+6349T>C) c.965T>C (p.Phe322Ser) c.992T>C (p.Phe331Ser) c.1847T>C (p.Phe616Ser) c.1661T>C (p.Phe554Ser) c.1580T>C (p.Phe527Ser) c.1286T>C (p.Phe429Ser) c.1667T>C (p.Phe556Ser) | dbSNP |
2 | g.48687875A>T | CA346743745 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1922T>A (p.Phe641Tyr) c.*234T>A (n.*234T>A) c.3441+16195A>T (n.3441+16195A>T) c.*666T>A (n.*666T>A) c.1841T>A (p.Phe614Tyr) c.276+16195A>T (n.276+16195A>T) c.*220+6349T>A (n.*220+6349T>A) c.965T>A (p.Phe322Tyr) c.992T>A (p.Phe331Tyr) c.1847T>A (p.Phe616Tyr) c.1661T>A (p.Phe554Tyr) c.1580T>A (p.Phe527Tyr) c.1286T>A (p.Phe429Tyr) c.1667T>A (p.Phe556Tyr) | |
2 | g.48687876A= | CA1248600886 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1921T= (p.Phe641=) c.*233T= (n.*233T=) c.3441+16196A= (n.3441+16196A=) c.*665T= (n.*665T=) c.1840T= (p.Phe614=) c.276+16196A= (n.276+16196A=) c.*220+6348T= (n.*220+6348T=) c.964T= (p.Phe322=) c.991T= (p.Phe331=) c.1846T= (p.Phe616=) c.1660T= (p.Phe554=) c.1579T= (p.Phe527=) c.1285T= (p.Phe429=) c.1666T= (p.Phe556=) | |
2 | g.48687876A>C | CA346743750 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1921T>G (p.Phe641Val) c.*233T>G (n.*233T>G) c.3441+16196A>C (n.3441+16196A>C) c.*665T>G (n.*665T>G) c.1840T>G (p.Phe614Val) c.276+16196A>C (n.276+16196A>C) c.*220+6348T>G (n.*220+6348T>G) c.964T>G (p.Phe322Val) c.991T>G (p.Phe331Val) c.1846T>G (p.Phe616Val) c.1660T>G (p.Phe554Val) c.1579T>G (p.Phe527Val) c.1285T>G (p.Phe429Val) c.1666T>G (p.Phe556Val) | |
2 | g.48687876A>G | CA1652969 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1921T>C (p.Phe641Leu) c.*233T>C (n.*233T>C) c.3441+16196A>G (n.3441+16196A>G) c.*665T>C (n.*665T>C) c.1840T>C (p.Phe614Leu) c.276+16196A>G (n.276+16196A>G) c.*220+6348T>C (n.*220+6348T>C) c.964T>C (p.Phe322Leu) c.991T>C (p.Phe331Leu) c.1846T>C (p.Phe616Leu) c.1660T>C (p.Phe554Leu) c.1579T>C (p.Phe527Leu) c.1285T>C (p.Phe429Leu) c.1666T>C (p.Phe556Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687876A>T | CA346743748 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1921T>A (p.Phe641Ile) c.*233T>A (n.*233T>A) c.3441+16196A>T (n.3441+16196A>T) c.*665T>A (n.*665T>A) c.1840T>A (p.Phe614Ile) c.276+16196A>T (n.276+16196A>T) c.*220+6348T>A (n.*220+6348T>A) c.964T>A (p.Phe322Ile) c.991T>A (p.Phe331Ile) c.1846T>A (p.Phe616Ile) c.1660T>A (p.Phe554Ile) c.1579T>A (p.Phe527Ile) c.1285T>A (p.Phe429Ile) c.1666T>A (p.Phe556Ile) | |
2 | g.48687877T>A | CA346743755 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1920A>T (p.Lys640Asn) c.*232A>T (n.*232A>T) c.3441+16197T>A (n.3441+16197T>A) c.*664A>T (n.*664A>T) c.1839A>T (p.Lys613Asn) c.276+16197T>A (n.276+16197T>A) c.*220+6347A>T (n.*220+6347A>T) c.963A>T (p.Lys321Asn) c.990A>T (p.Lys330Asn) c.1845A>T (p.Lys615Asn) c.1659A>T (p.Lys553Asn) c.1578A>T (p.Lys526Asn) c.1284A>T (p.Lys428Asn) c.1665A>T (p.Lys555Asn) | |
2 | g.48687877T>C | CA426125243 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1920A>G (p.Lys640=) c.*232A>G (n.*232A>G) c.3441+16197T>C (n.3441+16197T>C) c.*664A>G (n.*664A>G) c.1839A>G (p.Lys613=) c.276+16197T>C (n.276+16197T>C) c.*220+6347A>G (n.*220+6347A>G) c.963A>G (p.Lys321=) c.990A>G (p.Lys330=) c.1845A>G (p.Lys615=) c.1659A>G (p.Lys553=) c.1578A>G (p.Lys526=) c.1284A>G (p.Lys428=) c.1665A>G (p.Lys555=) | dbSNP gnomAD v4 |
2 | g.48687877T>G | CA346743757 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1920A>C (p.Lys640Asn) c.*232A>C (n.*232A>C) c.3441+16197T>G (n.3441+16197T>G) c.*664A>C (n.*664A>C) c.1839A>C (p.Lys613Asn) c.276+16197T>G (n.276+16197T>G) c.*220+6347A>C (n.*220+6347A>C) c.963A>C (p.Lys321Asn) c.990A>C (p.Lys330Asn) c.1845A>C (p.Lys615Asn) c.1659A>C (p.Lys553Asn) c.1578A>C (p.Lys526Asn) c.1284A>C (p.Lys428Asn) c.1665A>C (p.Lys555Asn) | |
2 | g.48687877T= | CA1248600887 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1920A= (p.Lys640=) c.*232A= (n.*232A=) c.3441+16197T= (n.3441+16197T=) c.*664A= (n.*664A=) c.1839A= (p.Lys613=) c.276+16197T= (n.276+16197T=) c.*220+6347A= (n.*220+6347A=) c.963A= (p.Lys321=) c.990A= (p.Lys330=) c.1845A= (p.Lys615=) c.1659A= (p.Lys553=) c.1578A= (p.Lys526=) c.1284A= (p.Lys428=) c.1665A= (p.Lys555=) | |
2 | g.48687878T>A | CA346743759 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1919A>T (p.Lys640Ile) c.*231A>T (n.*231A>T) c.3441+16198T>A (n.3441+16198T>A) c.*663A>T (n.*663A>T) c.1838A>T (p.Lys613Ile) c.276+16198T>A (n.276+16198T>A) c.*220+6346A>T (n.*220+6346A>T) c.962A>T (p.Lys321Ile) c.989A>T (p.Lys330Ile) c.1844A>T (p.Lys615Ile) c.1658A>T (p.Lys553Ile) c.1577A>T (p.Lys526Ile) c.1283A>T (p.Lys428Ile) c.1664A>T (p.Lys555Ile) | |
2 | g.48687878T>C | CA346743762 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1919A>G (p.Lys640Arg) c.*231A>G (n.*231A>G) c.3441+16198T>C (n.3441+16198T>C) c.*663A>G (n.*663A>G) c.1838A>G (p.Lys613Arg) c.276+16198T>C (n.276+16198T>C) c.*220+6346A>G (n.*220+6346A>G) c.962A>G (p.Lys321Arg) c.989A>G (p.Lys330Arg) c.1844A>G (p.Lys615Arg) c.1658A>G (p.Lys553Arg) c.1577A>G (p.Lys526Arg) c.1283A>G (p.Lys428Arg) c.1664A>G (p.Lys555Arg) | |
2 | g.48687878T>G | CA346743764 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1919A>C (p.Lys640Thr) c.*231A>C (n.*231A>C) c.3441+16198T>G (n.3441+16198T>G) c.*663A>C (n.*663A>C) c.1838A>C (p.Lys613Thr) c.276+16198T>G (n.276+16198T>G) c.*220+6346A>C (n.*220+6346A>C) c.962A>C (p.Lys321Thr) c.989A>C (p.Lys330Thr) c.1844A>C (p.Lys615Thr) c.1658A>C (p.Lys553Thr) c.1577A>C (p.Lys526Thr) c.1283A>C (p.Lys428Thr) c.1664A>C (p.Lys555Thr) | dbSNP |
2 | g.48687878T= | CA1248600888 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1919A= (p.Lys640=) c.*231A= (n.*231A=) c.3441+16198T= (n.3441+16198T=) c.*663A= (n.*663A=) c.1838A= (p.Lys613=) c.276+16198T= (n.276+16198T=) c.*220+6346A= (n.*220+6346A=) c.962A= (p.Lys321=) c.989A= (p.Lys330=) c.1844A= (p.Lys615=) c.1658A= (p.Lys553=) c.1577A= (p.Lys526=) c.1283A= (p.Lys428=) c.1664A= (p.Lys555=) | |
2 | g.48687879T>A | CA346743772 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1918A>T (p.Lys640Ter) c.*230A>T (n.*230A>T) c.3441+16199T>A (n.3441+16199T>A) c.*662A>T (n.*662A>T) c.1837A>T (p.Lys613Ter) c.276+16199T>A (n.276+16199T>A) c.*220+6345A>T (n.*220+6345A>T) c.961A>T (p.Lys321Ter) c.988A>T (p.Lys330Ter) c.1843A>T (p.Lys615Ter) c.1657A>T (p.Lys553Ter) c.1576A>T (p.Lys526Ter) c.1282A>T (p.Lys428Ter) c.1663A>T (p.Lys555Ter) | |
2 | g.48687879T>C | CA346743768 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1918A>G (p.Lys640Glu) c.*230A>G (n.*230A>G) c.3441+16199T>C (n.3441+16199T>C) c.*662A>G (n.*662A>G) c.1837A>G (p.Lys613Glu) c.276+16199T>C (n.276+16199T>C) c.*220+6345A>G (n.*220+6345A>G) c.961A>G (p.Lys321Glu) c.988A>G (p.Lys330Glu) c.1843A>G (p.Lys615Glu) c.1657A>G (p.Lys553Glu) c.1576A>G (p.Lys526Glu) c.1282A>G (p.Lys428Glu) c.1663A>G (p.Lys555Glu) | |
2 | g.48687879T>G | CA346743770 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1918A>C (p.Lys640Gln) c.*230A>C (n.*230A>C) c.3441+16199T>G (n.3441+16199T>G) c.*662A>C (n.*662A>C) c.1837A>C (p.Lys613Gln) c.276+16199T>G (n.276+16199T>G) c.*220+6345A>C (n.*220+6345A>C) c.961A>C (p.Lys321Gln) c.988A>C (p.Lys330Gln) c.1843A>C (p.Lys615Gln) c.1657A>C (p.Lys553Gln) c.1576A>C (p.Lys526Gln) c.1282A>C (p.Lys428Gln) c.1663A>C (p.Lys555Gln) | |
2 | g.48687880G>A | CA426125249 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1917C>T (p.Ser639=) c.*229C>T (n.*229C>T) c.3441+16200G>A (n.3441+16200G>A) c.*661C>T (n.*661C>T) c.1836C>T (p.Ser612=) c.276+16200G>A (n.276+16200G>A) c.*220+6344C>T (n.*220+6344C>T) c.960C>T (p.Ser320=) c.987C>T (p.Ser329=) c.1842C>T (p.Ser614=) c.1656C>T (p.Ser552=) c.1575C>T (p.Ser525=) c.1281C>T (p.Ser427=) c.1662C>T (p.Ser554=) | gnomAD v4 |
2 | g.48687880G>C | CA346743775 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1917C>G (p.Ser639Arg) c.*229C>G (n.*229C>G) c.3441+16200G>C (n.3441+16200G>C) c.*661C>G (n.*661C>G) c.1836C>G (p.Ser612Arg) c.276+16200G>C (n.276+16200G>C) c.*220+6344C>G (n.*220+6344C>G) c.960C>G (p.Ser320Arg) c.987C>G (p.Ser329Arg) c.1842C>G (p.Ser614Arg) c.1656C>G (p.Ser552Arg) c.1575C>G (p.Ser525Arg) c.1281C>G (p.Ser427Arg) c.1662C>G (p.Ser554Arg) | |
2 | g.48687880G>T | CA346743782 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1917C>A (p.Ser639Arg) c.*229C>A (n.*229C>A) c.3441+16200G>T (n.3441+16200G>T) c.*661C>A (n.*661C>A) c.1836C>A (p.Ser612Arg) c.276+16200G>T (n.276+16200G>T) c.*220+6344C>A (n.*220+6344C>A) c.960C>A (p.Ser320Arg) c.987C>A (p.Ser329Arg) c.1842C>A (p.Ser614Arg) c.1656C>A (p.Ser552Arg) c.1575C>A (p.Ser525Arg) c.1281C>A (p.Ser427Arg) c.1662C>A (p.Ser554Arg) | |
2 | g.48687881C>A | CA346743787 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1916G>T (p.Ser639Ile) c.*228G>T (n.*228G>T) c.3441+16201C>A (n.3441+16201C>A) c.*660G>T (n.*660G>T) c.1835G>T (p.Ser612Ile) c.276+16201C>A (n.276+16201C>A) c.*220+6343G>T (n.*220+6343G>T) c.959G>T (p.Ser320Ile) c.986G>T (p.Ser329Ile) c.1841G>T (p.Ser614Ile) c.1655G>T (p.Ser552Ile) c.1574G>T (p.Ser525Ile) c.1280G>T (p.Ser427Ile) c.1661G>T (p.Ser554Ile) | |
2 | g.48687881C= | CA1248600889 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1916G= (p.Ser639=) c.*228G= (n.*228G=) c.3441+16201C= (n.3441+16201C=) c.*660G= (n.*660G=) c.1835G= (p.Ser612=) c.276+16201C= (n.276+16201C=) c.*220+6343G= (n.*220+6343G=) c.959G= (p.Ser320=) c.986G= (p.Ser329=) c.1841G= (p.Ser614=) c.1655G= (p.Ser552=) c.1574G= (p.Ser525=) c.1280G= (p.Ser427=) c.1661G= (p.Ser554=) | |
2 | g.48687881C>G | CA346743789 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1916G>C (p.Ser639Thr) c.*228G>C (n.*228G>C) c.3441+16201C>G (n.3441+16201C>G) c.*660G>C (n.*660G>C) c.1835G>C (p.Ser612Thr) c.276+16201C>G (n.276+16201C>G) c.*220+6343G>C (n.*220+6343G>C) c.959G>C (p.Ser320Thr) c.986G>C (p.Ser329Thr) c.1841G>C (p.Ser614Thr) c.1655G>C (p.Ser552Thr) c.1574G>C (p.Ser525Thr) c.1280G>C (p.Ser427Thr) c.1661G>C (p.Ser554Thr) | |
2 | g.48687881C>T | CA1652970 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1916G>A (p.Ser639Asn) c.*228G>A (n.*228G>A) c.3441+16201C>T (n.3441+16201C>T) c.*660G>A (n.*660G>A) c.1835G>A (p.Ser612Asn) c.276+16201C>T (n.276+16201C>T) c.*220+6343G>A (n.*220+6343G>A) c.959G>A (p.Ser320Asn) c.986G>A (p.Ser329Asn) c.1841G>A (p.Ser614Asn) c.1655G>A (p.Ser552Asn) c.1574G>A (p.Ser525Asn) c.1280G>A (p.Ser427Asn) c.1661G>A (p.Ser554Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687882T>A | CA346743795 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1915A>T (p.Ser639Cys) c.*227A>T (n.*227A>T) c.3441+16202T>A (n.3441+16202T>A) c.*659A>T (n.*659A>T) c.1834A>T (p.Ser612Cys) c.276+16202T>A (n.276+16202T>A) c.*220+6342A>T (n.*220+6342A>T) c.958A>T (p.Ser320Cys) c.985A>T (p.Ser329Cys) c.1840A>T (p.Ser614Cys) c.1654A>T (p.Ser552Cys) c.1573A>T (p.Ser525Cys) c.1279A>T (p.Ser427Cys) c.1660A>T (p.Ser554Cys) | |
2 | g.48687882T>C | CA46752607 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1915A>G (p.Ser639Gly) c.*227A>G (n.*227A>G) c.3441+16202T>C (n.3441+16202T>C) c.*659A>G (n.*659A>G) c.1834A>G (p.Ser612Gly) c.276+16202T>C (n.276+16202T>C) c.*220+6342A>G (n.*220+6342A>G) c.958A>G (p.Ser320Gly) c.985A>G (p.Ser329Gly) c.1840A>G (p.Ser614Gly) c.1654A>G (p.Ser552Gly) c.1573A>G (p.Ser525Gly) c.1279A>G (p.Ser427Gly) c.1660A>G (p.Ser554Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687882T>G | CA346743797 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1915A>C (p.Ser639Arg) c.*227A>C (n.*227A>C) c.3441+16202T>G (n.3441+16202T>G) c.*659A>C (n.*659A>C) c.1834A>C (p.Ser612Arg) c.276+16202T>G (n.276+16202T>G) c.*220+6342A>C (n.*220+6342A>C) c.958A>C (p.Ser320Arg) c.985A>C (p.Ser329Arg) c.1840A>C (p.Ser614Arg) c.1654A>C (p.Ser552Arg) c.1573A>C (p.Ser525Arg) c.1279A>C (p.Ser427Arg) c.1660A>C (p.Ser554Arg) | |
2 | g.48687882T= | CA1248600890 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1915A= (p.Ser639=) c.*227A= (n.*227A=) c.3441+16202T= (n.3441+16202T=) c.*659A= (n.*659A=) c.1834A= (p.Ser612=) c.276+16202T= (n.276+16202T=) c.*220+6342A= (n.*220+6342A=) c.958A= (p.Ser320=) c.985A= (p.Ser329=) c.1840A= (p.Ser614=) c.1654A= (p.Ser552=) c.1573A= (p.Ser525=) c.1279A= (p.Ser427=) c.1660A= (p.Ser554=) | |
2 | g.48687883C>A | CA426125264 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1914G>T (p.Leu638=) c.*226G>T (n.*226G>T) c.3441+16203C>A (n.3441+16203C>A) c.*658G>T (n.*658G>T) c.1833G>T (p.Leu611=) c.276+16203C>A (n.276+16203C>A) c.*220+6341G>T (n.*220+6341G>T) c.957G>T (p.Leu319=) c.984G>T (p.Leu328=) c.1839G>T (p.Leu613=) c.1653G>T (p.Leu551=) c.1572G>T (p.Leu524=) c.1278G>T (p.Leu426=) c.1659G>T (p.Leu553=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.48687883C= | CA1248600891 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1914G= (p.Leu638=) c.*226G= (n.*226G=) c.3441+16203C= (n.3441+16203C=) c.*658G= (n.*658G=) c.1833G= (p.Leu611=) c.276+16203C= (n.276+16203C=) c.*220+6341G= (n.*220+6341G=) c.957G= (p.Leu319=) c.984G= (p.Leu328=) c.1839G= (p.Leu613=) c.1653G= (p.Leu551=) c.1572G= (p.Leu524=) c.1278G= (p.Leu426=) c.1659G= (p.Leu553=) | |
2 | g.48687883C>G | CA426125265 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1914G>C (p.Leu638=) c.*226G>C (n.*226G>C) c.3441+16203C>G (n.3441+16203C>G) c.*658G>C (n.*658G>C) c.1833G>C (p.Leu611=) c.276+16203C>G (n.276+16203C>G) c.*220+6341G>C (n.*220+6341G>C) c.957G>C (p.Leu319=) c.984G>C (p.Leu328=) c.1839G>C (p.Leu613=) c.1653G>C (p.Leu551=) c.1572G>C (p.Leu524=) c.1278G>C (p.Leu426=) c.1659G>C (p.Leu553=) | gnomAD v4 |
2 | g.48687883C>T | CA426125268 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1914G>A (p.Leu638=) c.*226G>A (n.*226G>A) c.3441+16203C>T (n.3441+16203C>T) c.*658G>A (n.*658G>A) c.1833G>A (p.Leu611=) c.276+16203C>T (n.276+16203C>T) c.*220+6341G>A (n.*220+6341G>A) c.957G>A (p.Leu319=) c.984G>A (p.Leu328=) c.1839G>A (p.Leu613=) c.1653G>A (p.Leu551=) c.1572G>A (p.Leu524=) c.1278G>A (p.Leu426=) c.1659G>A (p.Leu553=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687883_48687884delinsCA | CA1248600892 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1913_1914delinsTG (p.Leu638=) c.*225_*226delinsTG (n.*225_*226delinsTG) c.3441+16203_3441+16204delinsCA (n.3441+16203_3441+16204delinsCA) c.*657_*658delinsTG (n.*657_*658delinsTG) c.1832_1833delinsTG (p.Leu611=) c.276+16203_276+16204delinsCA (n.276+16203_276+16204delinsCA) c.*220+6340_*220+6341delinsTG (n.*220+6340_*220+6341delinsTG) c.956_957delinsTG (p.Leu319=) c.983_984delinsTG (p.Leu328=) c.1838_1839delinsTG (p.Leu613=) c.1652_1653delinsTG (p.Leu551=) c.1571_1572delinsTG (p.Leu524=) c.1277_1278delinsTG (p.Leu426=) c.1658_1659delinsTG (p.Leu553=) | |
2 | g.48687884del | CA1030377921 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1913del (p.Leu638ArgfsTer?) c.*225del (n.*225del) c.3441+16204del (n.3441+16204del) c.*657del (n.*657del) c.1832del (p.Leu611ArgfsTer?) c.276+16204del (n.276+16204del) c.*220+6340del (n.*220+6340del) c.956del (p.Leu319ArgfsTer?) c.983del (p.Leu328ArgfsTer?) c.1838del (p.Leu613ArgfsTer?) c.1652del (p.Leu551ArgfsTer?) c.1571del (p.Leu524ArgfsTer?) c.1277del (p.Leu426ArgfsTer?) c.1658del (p.Leu553ArgfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687884A= | CA1248600893 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1913T= (p.Leu638=) c.*225T= (n.*225T=) c.3441+16204A= (n.3441+16204A=) c.*657T= (n.*657T=) c.1832T= (p.Leu611=) c.276+16204A= (n.276+16204A=) c.*220+6340T= (n.*220+6340T=) c.956T= (p.Leu319=) c.983T= (p.Leu328=) c.1838T= (p.Leu613=) c.1652T= (p.Leu551=) c.1571T= (p.Leu524=) c.1277T= (p.Leu426=) c.1658T= (p.Leu553=) | |
2 | g.48687884A>C | CA346743802 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1913T>G (p.Leu638Arg) c.*225T>G (n.*225T>G) c.3441+16204A>C (n.3441+16204A>C) c.*657T>G (n.*657T>G) c.1832T>G (p.Leu611Arg) c.276+16204A>C (n.276+16204A>C) c.*220+6340T>G (n.*220+6340T>G) c.956T>G (p.Leu319Arg) c.983T>G (p.Leu328Arg) c.1838T>G (p.Leu613Arg) c.1652T>G (p.Leu551Arg) c.1571T>G (p.Leu524Arg) c.1277T>G (p.Leu426Arg) c.1658T>G (p.Leu553Arg) | |
2 | g.48687884A>G | CA1652971 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1913T>C (p.Leu638Pro) c.*225T>C (n.*225T>C) c.3441+16204A>G (n.3441+16204A>G) c.*657T>C (n.*657T>C) c.1832T>C (p.Leu611Pro) c.276+16204A>G (n.276+16204A>G) c.*220+6340T>C (n.*220+6340T>C) c.956T>C (p.Leu319Pro) c.983T>C (p.Leu328Pro) c.1838T>C (p.Leu613Pro) c.1652T>C (p.Leu551Pro) c.1571T>C (p.Leu524Pro) c.1277T>C (p.Leu426Pro) c.1658T>C (p.Leu553Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687884A>T | CA346743806 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1913T>A (p.Leu638Gln) c.*225T>A (n.*225T>A) c.3441+16204A>T (n.3441+16204A>T) c.*657T>A (n.*657T>A) c.1832T>A (p.Leu611Gln) c.276+16204A>T (n.276+16204A>T) c.*220+6340T>A (n.*220+6340T>A) c.956T>A (p.Leu319Gln) c.983T>A (p.Leu328Gln) c.1838T>A (p.Leu613Gln) c.1652T>A (p.Leu551Gln) c.1571T>A (p.Leu524Gln) c.1277T>A (p.Leu426Gln) c.1658T>A (p.Leu553Gln) | |
2 | g.48687885G>A | CA426125272 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1912C>T (p.Leu638=) c.*224C>T (n.*224C>T) c.3441+16205G>A (n.3441+16205G>A) c.*656C>T (n.*656C>T) c.1831C>T (p.Leu611=) c.276+16205G>A (n.276+16205G>A) c.*220+6339C>T (n.*220+6339C>T) c.955C>T (p.Leu319=) c.982C>T (p.Leu328=) c.1837C>T (p.Leu613=) c.1651C>T (p.Leu551=) c.1570C>T (p.Leu524=) c.1276C>T (p.Leu426=) c.1657C>T (p.Leu553=) | gnomAD v4 |
2 | g.48687885G>C | CA346743809 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1912C>G (p.Leu638Val) c.*224C>G (n.*224C>G) c.3441+16205G>C (n.3441+16205G>C) c.*656C>G (n.*656C>G) c.1831C>G (p.Leu611Val) c.276+16205G>C (n.276+16205G>C) c.*220+6339C>G (n.*220+6339C>G) c.955C>G (p.Leu319Val) c.982C>G (p.Leu328Val) c.1837C>G (p.Leu613Val) c.1651C>G (p.Leu551Val) c.1570C>G (p.Leu524Val) c.1276C>G (p.Leu426Val) c.1657C>G (p.Leu553Val) | |
2 | g.48687885G>T | CA346743812 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1912C>A (p.Leu638Met) c.*224C>A (n.*224C>A) c.3441+16205G>T (n.3441+16205G>T) c.*656C>A (n.*656C>A) c.1831C>A (p.Leu611Met) c.276+16205G>T (n.276+16205G>T) c.*220+6339C>A (n.*220+6339C>A) c.955C>A (p.Leu319Met) c.982C>A (p.Leu328Met) c.1837C>A (p.Leu613Met) c.1651C>A (p.Leu551Met) c.1570C>A (p.Leu524Met) c.1276C>A (p.Leu426Met) c.1657C>A (p.Leu553Met) | |
2 | g.48687886C>A | CA346743815 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1911G>T (p.Leu637Phe) c.*223G>T (n.*223G>T) c.3441+16206C>A (n.3441+16206C>A) c.*655G>T (n.*655G>T) c.1830G>T (p.Leu610Phe) c.276+16206C>A (n.276+16206C>A) c.*220+6338G>T (n.*220+6338G>T) c.954G>T (p.Leu318Phe) c.981G>T (p.Leu327Phe) c.1836G>T (p.Leu612Phe) c.1650G>T (p.Leu550Phe) c.1569G>T (p.Leu523Phe) c.1275G>T (p.Leu425Phe) c.1656G>T (p.Leu552Phe) | |
2 | g.48687886C>G | CA346743817 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1911G>C (p.Leu637Phe) c.*223G>C (n.*223G>C) c.3441+16206C>G (n.3441+16206C>G) c.*655G>C (n.*655G>C) c.1830G>C (p.Leu610Phe) c.276+16206C>G (n.276+16206C>G) c.*220+6338G>C (n.*220+6338G>C) c.954G>C (p.Leu318Phe) c.981G>C (p.Leu327Phe) c.1836G>C (p.Leu612Phe) c.1650G>C (p.Leu550Phe) c.1569G>C (p.Leu523Phe) c.1275G>C (p.Leu425Phe) c.1656G>C (p.Leu552Phe) | |
2 | g.48687886C>T | CA426125276 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1911G>A (p.Leu637=) c.*223G>A (n.*223G>A) c.3441+16206C>T (n.3441+16206C>T) c.*655G>A (n.*655G>A) c.1830G>A (p.Leu610=) c.276+16206C>T (n.276+16206C>T) c.*220+6338G>A (n.*220+6338G>A) c.954G>A (p.Leu318=) c.981G>A (p.Leu327=) c.1836G>A (p.Leu612=) c.1650G>A (p.Leu550=) c.1569G>A (p.Leu523=) c.1275G>A (p.Leu425=) c.1656G>A (p.Leu552=) | |
2 | g.48687887A>C | CA346743821 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1910T>G (p.Leu637Trp) c.*222T>G (n.*222T>G) c.3441+16207A>C (n.3441+16207A>C) c.*654T>G (n.*654T>G) c.1829T>G (p.Leu610Trp) c.276+16207A>C (n.276+16207A>C) c.*220+6337T>G (n.*220+6337T>G) c.953T>G (p.Leu318Trp) c.980T>G (p.Leu327Trp) c.1835T>G (p.Leu612Trp) c.1649T>G (p.Leu550Trp) c.1568T>G (p.Leu523Trp) c.1274T>G (p.Leu425Trp) c.1655T>G (p.Leu552Trp) | |
2 | g.48687887A>G | CA346743823 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1910T>C (p.Leu637Ser) c.*222T>C (n.*222T>C) c.3441+16207A>G (n.3441+16207A>G) c.*654T>C (n.*654T>C) c.1829T>C (p.Leu610Ser) c.276+16207A>G (n.276+16207A>G) c.*220+6337T>C (n.*220+6337T>C) c.953T>C (p.Leu318Ser) c.980T>C (p.Leu327Ser) c.1835T>C (p.Leu612Ser) c.1649T>C (p.Leu550Ser) c.1568T>C (p.Leu523Ser) c.1274T>C (p.Leu425Ser) c.1655T>C (p.Leu552Ser) | |
2 | g.48687887A>T | CA346743825 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1910T>A (p.Leu637Ter) c.*222T>A (n.*222T>A) c.3441+16207A>T (n.3441+16207A>T) c.*654T>A (n.*654T>A) c.1829T>A (p.Leu610Ter) c.276+16207A>T (n.276+16207A>T) c.*220+6337T>A (n.*220+6337T>A) c.953T>A (p.Leu318Ter) c.980T>A (p.Leu327Ter) c.1835T>A (p.Leu612Ter) c.1649T>A (p.Leu550Ter) c.1568T>A (p.Leu523Ter) c.1274T>A (p.Leu425Ter) c.1655T>A (p.Leu552Ter) | |
2 | g.48687888A>C | CA346743828 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1909T>G (p.Leu637Val) c.*221T>G (n.*221T>G) c.3441+16208A>C (n.3441+16208A>C) c.*653T>G (n.*653T>G) c.1828T>G (p.Leu610Val) c.276+16208A>C (n.276+16208A>C) c.*220+6336T>G (n.*220+6336T>G) c.952T>G (p.Leu318Val) c.979T>G (p.Leu327Val) c.1834T>G (p.Leu612Val) c.1648T>G (p.Leu550Val) c.1567T>G (p.Leu523Val) c.1273T>G (p.Leu425Val) c.1654T>G (p.Leu552Val) | |
2 | g.48687888A>G | CA426125293 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1909T>C (p.Leu637=) c.*221T>C (n.*221T>C) c.3441+16208A>G (n.3441+16208A>G) c.*653T>C (n.*653T>C) c.1828T>C (p.Leu610=) c.276+16208A>G (n.276+16208A>G) c.*220+6336T>C (n.*220+6336T>C) c.952T>C (p.Leu318=) c.979T>C (p.Leu327=) c.1834T>C (p.Leu612=) c.1648T>C (p.Leu550=) c.1567T>C (p.Leu523=) c.1273T>C (p.Leu425=) c.1654T>C (p.Leu552=) | |
2 | g.48687888A>T | CA346743830 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1909T>A (p.Leu637Met) c.*221T>A (n.*221T>A) c.3441+16208A>T (n.3441+16208A>T) c.*653T>A (n.*653T>A) c.1828T>A (p.Leu610Met) c.276+16208A>T (n.276+16208A>T) c.*220+6336T>A (n.*220+6336T>A) c.952T>A (p.Leu318Met) c.979T>A (p.Leu327Met) c.1834T>A (p.Leu612Met) c.1648T>A (p.Leu550Met) c.1567T>A (p.Leu523Met) c.1273T>A (p.Leu425Met) c.1654T>A (p.Leu552Met) | |
2 | g.48687889A>C | CA426125300 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1908T>G (p.Leu636=) c.*220T>G (n.*220T>G) c.3441+16209A>C (n.3441+16209A>C) c.*652T>G (n.*652T>G) c.1827T>G (p.Leu609=) c.276+16209A>C (n.276+16209A>C) c.*220+6335T>G (n.*220+6335T>G) c.951T>G (p.Leu317=) c.978T>G (p.Leu326=) c.1833T>G (p.Leu611=) c.1647T>G (p.Leu549=) c.1566T>G (p.Leu522=) c.1272T>G (p.Leu424=) c.1653T>G (p.Leu551=) | dbSNP |
2 | g.48687889A>G | CA426125298 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1908T>C (p.Leu636=) c.*220T>C (n.*220T>C) c.3441+16209A>G (n.3441+16209A>G) c.*652T>C (n.*652T>C) c.1827T>C (p.Leu609=) c.276+16209A>G (n.276+16209A>G) c.*220+6335T>C (n.*220+6335T>C) c.951T>C (p.Leu317=) c.978T>C (p.Leu326=) c.1833T>C (p.Leu611=) c.1647T>C (p.Leu549=) c.1566T>C (p.Leu522=) c.1272T>C (p.Leu424=) c.1653T>C (p.Leu551=) | |
2 | g.48687889A>T | CA426125296 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1908T>A (p.Leu636=) c.*220T>A (n.*220T>A) c.3441+16209A>T (n.3441+16209A>T) c.*652T>A (n.*652T>A) c.1827T>A (p.Leu609=) c.276+16209A>T (n.276+16209A>T) c.*220+6335T>A (n.*220+6335T>A) c.951T>A (p.Leu317=) c.978T>A (p.Leu326=) c.1833T>A (p.Leu611=) c.1647T>A (p.Leu549=) c.1566T>A (p.Leu522=) c.1272T>A (p.Leu424=) c.1653T>A (p.Leu551=) | |
2 | g.48687890A>C | CA346743839 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1907T>G (p.Leu636Arg) c.*219T>G (n.*219T>G) c.3441+16210A>C (n.3441+16210A>C) c.*651T>G (n.*651T>G) c.1826T>G (p.Leu609Arg) c.276+16210A>C (n.276+16210A>C) c.*220+6334T>G (n.*220+6334T>G) c.950T>G (p.Leu317Arg) c.977T>G (p.Leu326Arg) c.1832T>G (p.Leu611Arg) c.1646T>G (p.Leu549Arg) c.1565T>G (p.Leu522Arg) c.1271T>G (p.Leu424Arg) c.1652T>G (p.Leu551Arg) | |
2 | g.48687890A>G | CA346743836 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1907T>C (p.Leu636Pro) c.*219T>C (n.*219T>C) c.3441+16210A>G (n.3441+16210A>G) c.*651T>C (n.*651T>C) c.1826T>C (p.Leu609Pro) c.276+16210A>G (n.276+16210A>G) c.*220+6334T>C (n.*220+6334T>C) c.950T>C (p.Leu317Pro) c.977T>C (p.Leu326Pro) c.1832T>C (p.Leu611Pro) c.1646T>C (p.Leu549Pro) c.1565T>C (p.Leu522Pro) c.1271T>C (p.Leu424Pro) c.1652T>C (p.Leu551Pro) | |
2 | g.48687890A>T | CA346743835 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1907T>A (p.Leu636His) c.*219T>A (n.*219T>A) c.3441+16210A>T (n.3441+16210A>T) c.*651T>A (n.*651T>A) c.1826T>A (p.Leu609His) c.276+16210A>T (n.276+16210A>T) c.*220+6334T>A (n.*220+6334T>A) c.950T>A (p.Leu317His) c.977T>A (p.Leu326His) c.1832T>A (p.Leu611His) c.1646T>A (p.Leu549His) c.1565T>A (p.Leu522His) c.1271T>A (p.Leu424His) c.1652T>A (p.Leu551His) | |
2 | g.48687891G>A | CA346743842 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1906C>T (p.Leu636Phe) c.*218C>T (n.*218C>T) c.3441+16211G>A (n.3441+16211G>A) c.*650C>T (n.*650C>T) c.1825C>T (p.Leu609Phe) c.276+16211G>A (n.276+16211G>A) c.*220+6333C>T (n.*220+6333C>T) c.949C>T (p.Leu317Phe) c.976C>T (p.Leu326Phe) c.1831C>T (p.Leu611Phe) c.1645C>T (p.Leu549Phe) c.1564C>T (p.Leu522Phe) c.1270C>T (p.Leu424Phe) c.1651C>T (p.Leu551Phe) | COSMIC |
2 | g.48687891G>C | CA346743840 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1906C>G (p.Leu636Val) c.*218C>G (n.*218C>G) c.3441+16211G>C (n.3441+16211G>C) c.*650C>G (n.*650C>G) c.1825C>G (p.Leu609Val) c.276+16211G>C (n.276+16211G>C) c.*220+6333C>G (n.*220+6333C>G) c.949C>G (p.Leu317Val) c.976C>G (p.Leu326Val) c.1831C>G (p.Leu611Val) c.1645C>G (p.Leu549Val) c.1564C>G (p.Leu522Val) c.1270C>G (p.Leu424Val) c.1651C>G (p.Leu551Val) | gnomAD v4 |
2 | g.48687891G>T | CA346743843 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1906C>A (p.Leu636Ile) c.*218C>A (n.*218C>A) c.3441+16211G>T (n.3441+16211G>T) c.*650C>A (n.*650C>A) c.1825C>A (p.Leu609Ile) c.276+16211G>T (n.276+16211G>T) c.*220+6333C>A (n.*220+6333C>A) c.949C>A (p.Leu317Ile) c.976C>A (p.Leu326Ile) c.1831C>A (p.Leu611Ile) c.1645C>A (p.Leu549Ile) c.1564C>A (p.Leu522Ile) c.1270C>A (p.Leu424Ile) c.1651C>A (p.Leu551Ile) | COSMIC |
2 | g.48687892A= | CA1248600894 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1905T= (p.Phe635=) c.*217T= (n.*217T=) c.3441+16212A= (n.3441+16212A=) c.*649T= (n.*649T=) c.1824T= (p.Phe608=) c.276+16212A= (n.276+16212A=) c.*220+6332T= (n.*220+6332T=) c.948T= (p.Phe316=) c.975T= (p.Phe325=) c.1830T= (p.Phe610=) c.1644T= (p.Phe548=) c.1563T= (p.Phe521=) c.1269T= (p.Phe423=) c.1650T= (p.Phe550=) | |
2 | g.48687892A>C | CA346743847 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1905T>G (p.Phe635Leu) c.*217T>G (n.*217T>G) c.3441+16212A>C (n.3441+16212A>C) c.*649T>G (n.*649T>G) c.1824T>G (p.Phe608Leu) c.276+16212A>C (n.276+16212A>C) c.*220+6332T>G (n.*220+6332T>G) c.948T>G (p.Phe316Leu) c.975T>G (p.Phe325Leu) c.1830T>G (p.Phe610Leu) c.1644T>G (p.Phe548Leu) c.1563T>G (p.Phe521Leu) c.1269T>G (p.Phe423Leu) c.1650T>G (p.Phe550Leu) | |
2 | g.48687892A>G | CA426125306 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1905T>C (p.Phe635=) c.*217T>C (n.*217T>C) c.3441+16212A>G (n.3441+16212A>G) c.*649T>C (n.*649T>C) c.1824T>C (p.Phe608=) c.276+16212A>G (n.276+16212A>G) c.*220+6332T>C (n.*220+6332T>C) c.948T>C (p.Phe316=) c.975T>C (p.Phe325=) c.1830T>C (p.Phe610=) c.1644T>C (p.Phe548=) c.1563T>C (p.Phe521=) c.1269T>C (p.Phe423=) c.1650T>C (p.Phe550=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687892A>T | CA346743848 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1905T>A (p.Phe635Leu) c.*217T>A (n.*217T>A) c.3441+16212A>T (n.3441+16212A>T) c.*649T>A (n.*649T>A) c.1824T>A (p.Phe608Leu) c.276+16212A>T (n.276+16212A>T) c.*220+6332T>A (n.*220+6332T>A) c.948T>A (p.Phe316Leu) c.975T>A (p.Phe325Leu) c.1830T>A (p.Phe610Leu) c.1644T>A (p.Phe548Leu) c.1563T>A (p.Phe521Leu) c.1269T>A (p.Phe423Leu) c.1650T>A (p.Phe550Leu) | |
2 | g.48687893A>C | CA346743851 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1904T>G (p.Phe635Cys) c.*216T>G (n.*216T>G) c.3441+16213A>C (n.3441+16213A>C) c.*648T>G (n.*648T>G) c.1823T>G (p.Phe608Cys) c.276+16213A>C (n.276+16213A>C) c.*220+6331T>G (n.*220+6331T>G) c.947T>G (p.Phe316Cys) c.974T>G (p.Phe325Cys) c.1829T>G (p.Phe610Cys) c.1643T>G (p.Phe548Cys) c.1562T>G (p.Phe521Cys) c.1268T>G (p.Phe423Cys) c.1649T>G (p.Phe550Cys) | |
2 | g.48687893A>G | CA346743854 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1904T>C (p.Phe635Ser) c.*216T>C (n.*216T>C) c.3441+16213A>G (n.3441+16213A>G) c.*648T>C (n.*648T>C) c.1823T>C (p.Phe608Ser) c.276+16213A>G (n.276+16213A>G) c.*220+6331T>C (n.*220+6331T>C) c.947T>C (p.Phe316Ser) c.974T>C (p.Phe325Ser) c.1829T>C (p.Phe610Ser) c.1643T>C (p.Phe548Ser) c.1562T>C (p.Phe521Ser) c.1268T>C (p.Phe423Ser) c.1649T>C (p.Phe550Ser) | gnomAD v4 |
2 | g.48687893A>T | CA346743856 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1904T>A (p.Phe635Tyr) c.*216T>A (n.*216T>A) c.3441+16213A>T (n.3441+16213A>T) c.*648T>A (n.*648T>A) c.1823T>A (p.Phe608Tyr) c.276+16213A>T (n.276+16213A>T) c.*220+6331T>A (n.*220+6331T>A) c.947T>A (p.Phe316Tyr) c.974T>A (p.Phe325Tyr) c.1829T>A (p.Phe610Tyr) c.1643T>A (p.Phe548Tyr) c.1562T>A (p.Phe521Tyr) c.1268T>A (p.Phe423Tyr) c.1649T>A (p.Phe550Tyr) | COSMIC |
2 | g.48687894A>C | CA346743859 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1903T>G (p.Phe635Val) c.*215T>G (n.*215T>G) c.3441+16214A>C (n.3441+16214A>C) c.*647T>G (n.*647T>G) c.1822T>G (p.Phe608Val) c.276+16214A>C (n.276+16214A>C) c.*220+6330T>G (n.*220+6330T>G) c.946T>G (p.Phe316Val) c.973T>G (p.Phe325Val) c.1828T>G (p.Phe610Val) c.1642T>G (p.Phe548Val) c.1561T>G (p.Phe521Val) c.1267T>G (p.Phe423Val) c.1648T>G (p.Phe550Val) | |
2 | g.48687894A>G | CA346743861 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1903T>C (p.Phe635Leu) c.*215T>C (n.*215T>C) c.3441+16214A>G (n.3441+16214A>G) c.*647T>C (n.*647T>C) c.1822T>C (p.Phe608Leu) c.276+16214A>G (n.276+16214A>G) c.*220+6330T>C (n.*220+6330T>C) c.946T>C (p.Phe316Leu) c.973T>C (p.Phe325Leu) c.1828T>C (p.Phe610Leu) c.1642T>C (p.Phe548Leu) c.1561T>C (p.Phe521Leu) c.1267T>C (p.Phe423Leu) c.1648T>C (p.Phe550Leu) | |
2 | g.48687894A>T | CA346743864 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1903T>A (p.Phe635Ile) c.*215T>A (n.*215T>A) c.3441+16214A>T (n.3441+16214A>T) c.*647T>A (n.*647T>A) c.1822T>A (p.Phe608Ile) c.276+16214A>T (n.276+16214A>T) c.*220+6330T>A (n.*220+6330T>A) c.946T>A (p.Phe316Ile) c.973T>A (p.Phe325Ile) c.1828T>A (p.Phe610Ile) c.1642T>A (p.Phe548Ile) c.1561T>A (p.Phe521Ile) c.1267T>A (p.Phe423Ile) c.1648T>A (p.Phe550Ile) | |
2 | g.48687895G>A | CA426125320 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1902C>T (p.Phe634=) c.*214C>T (n.*214C>T) c.3441+16215G>A (n.3441+16215G>A) c.*646C>T (n.*646C>T) c.1821C>T (p.Phe607=) c.276+16215G>A (n.276+16215G>A) c.*220+6329C>T (n.*220+6329C>T) c.945C>T (p.Phe315=) c.972C>T (p.Phe324=) c.1827C>T (p.Phe609=) c.1641C>T (p.Phe547=) c.1560C>T (p.Phe520=) c.1266C>T (p.Phe422=) c.1647C>T (p.Phe549=) | gnomAD v4 COSMIC |
2 | g.48687895G>C | CA346743866 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1902C>G (p.Phe634Leu) c.*214C>G (n.*214C>G) c.3441+16215G>C (n.3441+16215G>C) c.*646C>G (n.*646C>G) c.1821C>G (p.Phe607Leu) c.276+16215G>C (n.276+16215G>C) c.*220+6329C>G (n.*220+6329C>G) c.945C>G (p.Phe315Leu) c.972C>G (p.Phe324Leu) c.1827C>G (p.Phe609Leu) c.1641C>G (p.Phe547Leu) c.1560C>G (p.Phe520Leu) c.1266C>G (p.Phe422Leu) c.1647C>G (p.Phe549Leu) | |
2 | g.48687895G= | CA1248600895 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1902C= (p.Phe634=) c.*214C= (n.*214C=) c.3441+16215G= (n.3441+16215G=) c.*646C= (n.*646C=) c.1821C= (p.Phe607=) c.276+16215G= (n.276+16215G=) c.*220+6329C= (n.*220+6329C=) c.945C= (p.Phe315=) c.972C= (p.Phe324=) c.1827C= (p.Phe609=) c.1641C= (p.Phe547=) c.1560C= (p.Phe520=) c.1266C= (p.Phe422=) c.1647C= (p.Phe549=) | |
2 | g.48687895G>T | CA346743868 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1902C>A (p.Phe634Leu) c.*214C>A (n.*214C>A) c.3441+16215G>T (n.3441+16215G>T) c.*646C>A (n.*646C>A) c.1821C>A (p.Phe607Leu) c.276+16215G>T (n.276+16215G>T) c.*220+6329C>A (n.*220+6329C>A) c.945C>A (p.Phe315Leu) c.972C>A (p.Phe324Leu) c.1827C>A (p.Phe609Leu) c.1641C>A (p.Phe547Leu) c.1560C>A (p.Phe520Leu) c.1266C>A (p.Phe422Leu) c.1647C>A (p.Phe549Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.48687896A>C | CA346743869 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1901T>G (p.Phe634Cys) c.*213T>G (n.*213T>G) c.3441+16216A>C (n.3441+16216A>C) c.*645T>G (n.*645T>G) c.1820T>G (p.Phe607Cys) c.276+16216A>C (n.276+16216A>C) c.*220+6328T>G (n.*220+6328T>G) c.944T>G (p.Phe315Cys) c.971T>G (p.Phe324Cys) c.1826T>G (p.Phe609Cys) c.1640T>G (p.Phe547Cys) c.1559T>G (p.Phe520Cys) c.1265T>G (p.Phe422Cys) c.1646T>G (p.Phe549Cys) | |
2 | g.48687896A>G | CA346743870 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1901T>C (p.Phe634Ser) c.*213T>C (n.*213T>C) c.3441+16216A>G (n.3441+16216A>G) c.*645T>C (n.*645T>C) c.1820T>C (p.Phe607Ser) c.276+16216A>G (n.276+16216A>G) c.*220+6328T>C (n.*220+6328T>C) c.944T>C (p.Phe315Ser) c.971T>C (p.Phe324Ser) c.1826T>C (p.Phe609Ser) c.1640T>C (p.Phe547Ser) c.1559T>C (p.Phe520Ser) c.1265T>C (p.Phe422Ser) c.1646T>C (p.Phe549Ser) | |
2 | g.48687896A>T | CA346743872 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1901T>A (p.Phe634Tyr) c.*213T>A (n.*213T>A) c.3441+16216A>T (n.3441+16216A>T) c.*645T>A (n.*645T>A) c.1820T>A (p.Phe607Tyr) c.276+16216A>T (n.276+16216A>T) c.*220+6328T>A (n.*220+6328T>A) c.944T>A (p.Phe315Tyr) c.971T>A (p.Phe324Tyr) c.1826T>A (p.Phe609Tyr) c.1640T>A (p.Phe547Tyr) c.1559T>A (p.Phe520Tyr) c.1265T>A (p.Phe422Tyr) c.1646T>A (p.Phe549Tyr) | |
2 | g.48687897A= | CA1248600896 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1900T= (p.Phe634=) c.*212T= (n.*212T=) c.3441+16217A= (n.3441+16217A=) c.*644T= (n.*644T=) c.1819T= (p.Phe607=) c.276+16217A= (n.276+16217A=) c.*220+6327T= (n.*220+6327T=) c.943T= (p.Phe315=) c.970T= (p.Phe324=) c.1825T= (p.Phe609=) c.1639T= (p.Phe547=) c.1558T= (p.Phe520=) c.1264T= (p.Phe422=) c.1645T= (p.Phe549=) | |
2 | g.48687897A>C | CA346743875 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1900T>G (p.Phe634Val) c.*212T>G (n.*212T>G) c.3441+16217A>C (n.3441+16217A>C) c.*644T>G (n.*644T>G) c.1819T>G (p.Phe607Val) c.276+16217A>C (n.276+16217A>C) c.*220+6327T>G (n.*220+6327T>G) c.943T>G (p.Phe315Val) c.970T>G (p.Phe324Val) c.1825T>G (p.Phe609Val) c.1639T>G (p.Phe547Val) c.1558T>G (p.Phe520Val) c.1264T>G (p.Phe422Val) c.1645T>G (p.Phe549Val) | |
2 | g.48687897A>G | CA346743879 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1900T>C (p.Phe634Leu) c.*212T>C (n.*212T>C) c.3441+16217A>G (n.3441+16217A>G) c.*644T>C (n.*644T>C) c.1819T>C (p.Phe607Leu) c.276+16217A>G (n.276+16217A>G) c.*220+6327T>C (n.*220+6327T>C) c.943T>C (p.Phe315Leu) c.970T>C (p.Phe324Leu) c.1825T>C (p.Phe609Leu) c.1639T>C (p.Phe547Leu) c.1558T>C (p.Phe520Leu) c.1264T>C (p.Phe422Leu) c.1645T>C (p.Phe549Leu) | dbSNP gnomAD v4 |
2 | g.48687897A>T | CA346743877 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1900T>A (p.Phe634Ile) c.*212T>A (n.*212T>A) c.3441+16217A>T (n.3441+16217A>T) c.*644T>A (n.*644T>A) c.1819T>A (p.Phe607Ile) c.276+16217A>T (n.276+16217A>T) c.*220+6327T>A (n.*220+6327T>A) c.943T>A (p.Phe315Ile) c.970T>A (p.Phe324Ile) c.1825T>A (p.Phe609Ile) c.1639T>A (p.Phe547Ile) c.1558T>A (p.Phe520Ile) c.1264T>A (p.Phe422Ile) c.1645T>A (p.Phe549Ile) | |
2 | g.48687898A>C | CA346743881 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1899T>G (p.Asp633Glu) c.*211T>G (n.*211T>G) c.3441+16218A>C (n.3441+16218A>C) c.*643T>G (n.*643T>G) c.1818T>G (p.Asp606Glu) c.276+16218A>C (n.276+16218A>C) c.*220+6326T>G (n.*220+6326T>G) c.942T>G (p.Asp314Glu) c.969T>G (p.Asp323Glu) c.1824T>G (p.Asp608Glu) c.1638T>G (p.Asp546Glu) c.1557T>G (p.Asp519Glu) c.1263T>G (p.Asp421Glu) c.1644T>G (p.Asp548Glu) | |
2 | g.48687898A>G | CA426125330 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1899T>C (p.Asp633=) c.*211T>C (n.*211T>C) c.3441+16218A>G (n.3441+16218A>G) c.*643T>C (n.*643T>C) c.1818T>C (p.Asp606=) c.276+16218A>G (n.276+16218A>G) c.*220+6326T>C (n.*220+6326T>C) c.942T>C (p.Asp314=) c.969T>C (p.Asp323=) c.1824T>C (p.Asp608=) c.1638T>C (p.Asp546=) c.1557T>C (p.Asp519=) c.1263T>C (p.Asp421=) c.1644T>C (p.Asp548=) | |
2 | g.48687898A>T | CA346743883 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1899T>A (p.Asp633Glu) c.*211T>A (n.*211T>A) c.3441+16218A>T (n.3441+16218A>T) c.*643T>A (n.*643T>A) c.1818T>A (p.Asp606Glu) c.276+16218A>T (n.276+16218A>T) c.*220+6326T>A (n.*220+6326T>A) c.942T>A (p.Asp314Glu) c.969T>A (p.Asp323Glu) c.1824T>A (p.Asp608Glu) c.1638T>A (p.Asp546Glu) c.1557T>A (p.Asp519Glu) c.1263T>A (p.Asp421Glu) c.1644T>A (p.Asp548Glu) | |
2 | g.48687899T>A | CA1652972 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1898A>T (p.Asp633Val) c.*210A>T (n.*210A>T) c.3441+16219T>A (n.3441+16219T>A) c.*642A>T (n.*642A>T) c.1817A>T (p.Asp606Val) c.276+16219T>A (n.276+16219T>A) c.*220+6325A>T (n.*220+6325A>T) c.941A>T (p.Asp314Val) c.968A>T (p.Asp323Val) c.1823A>T (p.Asp608Val) c.1637A>T (p.Asp546Val) c.1556A>T (p.Asp519Val) c.1262A>T (p.Asp421Val) c.1643A>T (p.Asp548Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687899T>C | CA346743887 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1898A>G (p.Asp633Gly) c.*210A>G (n.*210A>G) c.3441+16219T>C (n.3441+16219T>C) c.*642A>G (n.*642A>G) c.1817A>G (p.Asp606Gly) c.276+16219T>C (n.276+16219T>C) c.*220+6325A>G (n.*220+6325A>G) c.941A>G (p.Asp314Gly) c.968A>G (p.Asp323Gly) c.1823A>G (p.Asp608Gly) c.1637A>G (p.Asp546Gly) c.1556A>G (p.Asp519Gly) c.1262A>G (p.Asp421Gly) c.1643A>G (p.Asp548Gly) | |
2 | g.48687899T>G | CA346743889 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1898A>C (p.Asp633Ala) c.*210A>C (n.*210A>C) c.3441+16219T>G (n.3441+16219T>G) c.*642A>C (n.*642A>C) c.1817A>C (p.Asp606Ala) c.276+16219T>G (n.276+16219T>G) c.*220+6325A>C (n.*220+6325A>C) c.941A>C (p.Asp314Ala) c.968A>C (p.Asp323Ala) c.1823A>C (p.Asp608Ala) c.1637A>C (p.Asp546Ala) c.1556A>C (p.Asp519Ala) c.1262A>C (p.Asp421Ala) c.1643A>C (p.Asp548Ala) | |
2 | g.48687899T= | CA1248600897 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1898A= (p.Asp633=) c.*210A= (n.*210A=) c.3441+16219T= (n.3441+16219T=) c.*642A= (n.*642A=) c.1817A= (p.Asp606=) c.276+16219T= (n.276+16219T=) c.*220+6325A= (n.*220+6325A=) c.941A= (p.Asp314=) c.968A= (p.Asp323=) c.1823A= (p.Asp608=) c.1637A= (p.Asp546=) c.1556A= (p.Asp519=) c.1262A= (p.Asp421=) c.1643A= (p.Asp548=) | |
2 | g.48687900C>A | CA346743893 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1897G>T (p.Asp633Tyr) c.*209G>T (n.*209G>T) c.3441+16220C>A (n.3441+16220C>A) c.*641G>T (n.*641G>T) c.1816G>T (p.Asp606Tyr) c.276+16220C>A (n.276+16220C>A) c.*220+6324G>T (n.*220+6324G>T) c.940G>T (p.Asp314Tyr) c.967G>T (p.Asp323Tyr) c.1822G>T (p.Asp608Tyr) c.1636G>T (p.Asp546Tyr) c.1555G>T (p.Asp519Tyr) c.1261G>T (p.Asp421Tyr) c.1642G>T (p.Asp548Tyr) | |
2 | g.48687900C= | CA1248600898 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1897G= (p.Asp633=) c.*209G= (n.*209G=) c.3441+16220C= (n.3441+16220C=) c.*641G= (n.*641G=) c.1816G= (p.Asp606=) c.276+16220C= (n.276+16220C=) c.*220+6324G= (n.*220+6324G=) c.940G= (p.Asp314=) c.967G= (p.Asp323=) c.1822G= (p.Asp608=) c.1636G= (p.Asp546=) c.1555G= (p.Asp519=) c.1261G= (p.Asp421=) c.1642G= (p.Asp548=) | |
2 | g.48687900C>G | CA346743894 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1897G>C (p.Asp633His) c.*209G>C (n.*209G>C) c.3441+16220C>G (n.3441+16220C>G) c.*641G>C (n.*641G>C) c.1816G>C (p.Asp606His) c.276+16220C>G (n.276+16220C>G) c.*220+6324G>C (n.*220+6324G>C) c.940G>C (p.Asp314His) c.967G>C (p.Asp323His) c.1822G>C (p.Asp608His) c.1636G>C (p.Asp546His) c.1555G>C (p.Asp519His) c.1261G>C (p.Asp421His) c.1642G>C (p.Asp548His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687900C>T | CA346743896 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1897G>A (p.Asp633Asn) c.*209G>A (n.*209G>A) c.3441+16220C>T (n.3441+16220C>T) c.*641G>A (n.*641G>A) c.1816G>A (p.Asp606Asn) c.276+16220C>T (n.276+16220C>T) c.*220+6324G>A (n.*220+6324G>A) c.940G>A (p.Asp314Asn) c.967G>A (p.Asp323Asn) c.1822G>A (p.Asp608Asn) c.1636G>A (p.Asp546Asn) c.1555G>A (p.Asp519Asn) c.1261G>A (p.Asp421Asn) c.1642G>A (p.Asp548Asn) | COSMIC |
2 | g.48687901T>A | CA346743897 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1896A>T (p.Arg632Ser) c.*208A>T (n.*208A>T) c.3441+16221T>A (n.3441+16221T>A) c.*640A>T (n.*640A>T) c.1815A>T (p.Arg605Ser) c.276+16221T>A (n.276+16221T>A) c.*220+6323A>T (n.*220+6323A>T) c.939A>T (p.Arg313Ser) c.966A>T (p.Arg322Ser) c.1821A>T (p.Arg607Ser) c.1635A>T (p.Arg545Ser) c.1554A>T (p.Arg518Ser) c.1260A>T (p.Arg420Ser) c.1641A>T (p.Arg547Ser) | |
2 | g.48687901T>C | CA426125341 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1896A>G (p.Arg632=) c.*208A>G (n.*208A>G) c.3441+16221T>C (n.3441+16221T>C) c.*640A>G (n.*640A>G) c.1815A>G (p.Arg605=) c.276+16221T>C (n.276+16221T>C) c.*220+6323A>G (n.*220+6323A>G) c.939A>G (p.Arg313=) c.966A>G (p.Arg322=) c.1821A>G (p.Arg607=) c.1635A>G (p.Arg545=) c.1554A>G (p.Arg518=) c.1260A>G (p.Arg420=) c.1641A>G (p.Arg547=) | |
2 | g.48687901T>G | CA346743901 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1896A>C (p.Arg632Ser) c.*208A>C (n.*208A>C) c.3441+16221T>G (n.3441+16221T>G) c.*640A>C (n.*640A>C) c.1815A>C (p.Arg605Ser) c.276+16221T>G (n.276+16221T>G) c.*220+6323A>C (n.*220+6323A>C) c.939A>C (p.Arg313Ser) c.966A>C (p.Arg322Ser) c.1821A>C (p.Arg607Ser) c.1635A>C (p.Arg545Ser) c.1554A>C (p.Arg518Ser) c.1260A>C (p.Arg420Ser) c.1641A>C (p.Arg547Ser) | |
2 | g.48687902C>A | CA346743907 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1895G>T (p.Arg632Ile) c.*207G>T (n.*207G>T) c.3441+16222C>A (n.3441+16222C>A) c.*639G>T (n.*639G>T) c.1814G>T (p.Arg605Ile) c.276+16222C>A (n.276+16222C>A) c.*220+6322G>T (n.*220+6322G>T) c.938G>T (p.Arg313Ile) c.965G>T (p.Arg322Ile) c.1820G>T (p.Arg607Ile) c.1634G>T (p.Arg545Ile) c.1553G>T (p.Arg518Ile) c.1259G>T (p.Arg420Ile) c.1640G>T (p.Arg547Ile) | |
2 | g.48687902C>G | CA346743909 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1895G>C (p.Arg632Thr) c.*207G>C (n.*207G>C) c.3441+16222C>G (n.3441+16222C>G) c.*639G>C (n.*639G>C) c.1814G>C (p.Arg605Thr) c.276+16222C>G (n.276+16222C>G) c.*220+6322G>C (n.*220+6322G>C) c.938G>C (p.Arg313Thr) c.965G>C (p.Arg322Thr) c.1820G>C (p.Arg607Thr) c.1634G>C (p.Arg545Thr) c.1553G>C (p.Arg518Thr) c.1259G>C (p.Arg420Thr) c.1640G>C (p.Arg547Thr) | gnomAD v4 COSMIC |
2 | g.48687902C>T | CA346743904 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1895G>A (p.Arg632Lys) c.*207G>A (n.*207G>A) c.3441+16222C>T (n.3441+16222C>T) c.*639G>A (n.*639G>A) c.1814G>A (p.Arg605Lys) c.276+16222C>T (n.276+16222C>T) c.*220+6322G>A (n.*220+6322G>A) c.938G>A (p.Arg313Lys) c.965G>A (p.Arg322Lys) c.1820G>A (p.Arg607Lys) c.1634G>A (p.Arg545Lys) c.1553G>A (p.Arg518Lys) c.1259G>A (p.Arg420Lys) c.1640G>A (p.Arg547Lys) | gnomAD v4 COSMIC |
2 | g.48687903T>A | CA346743911 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1894A>T (p.Arg632Ter) c.*206A>T (n.*206A>T) c.3441+16223T>A (n.3441+16223T>A) c.*638A>T (n.*638A>T) c.1813A>T (p.Arg605Ter) c.276+16223T>A (n.276+16223T>A) c.*220+6321A>T (n.*220+6321A>T) c.937A>T (p.Arg313Ter) c.964A>T (p.Arg322Ter) c.1819A>T (p.Arg607Ter) c.1633A>T (p.Arg545Ter) c.1552A>T (p.Arg518Ter) c.1258A>T (p.Arg420Ter) c.1639A>T (p.Arg547Ter) | |
2 | g.48687903T>C | CA346743913 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1894A>G (p.Arg632Gly) c.*206A>G (n.*206A>G) c.3441+16223T>C (n.3441+16223T>C) c.*638A>G (n.*638A>G) c.1813A>G (p.Arg605Gly) c.276+16223T>C (n.276+16223T>C) c.*220+6321A>G (n.*220+6321A>G) c.937A>G (p.Arg313Gly) c.964A>G (p.Arg322Gly) c.1819A>G (p.Arg607Gly) c.1633A>G (p.Arg545Gly) c.1552A>G (p.Arg518Gly) c.1258A>G (p.Arg420Gly) c.1639A>G (p.Arg547Gly) | |
2 | g.48687903T>G | CA426125356 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1894A>C (p.Arg632=) c.*206A>C (n.*206A>C) c.3441+16223T>G (n.3441+16223T>G) c.*638A>C (n.*638A>C) c.1813A>C (p.Arg605=) c.276+16223T>G (n.276+16223T>G) c.*220+6321A>C (n.*220+6321A>C) c.937A>C (p.Arg313=) c.964A>C (p.Arg322=) c.1819A>C (p.Arg607=) c.1633A>C (p.Arg545=) c.1552A>C (p.Arg518=) c.1258A>C (p.Arg420=) c.1639A>C (p.Arg547=) | |
2 | g.48687904T>A | CA346743916 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1893A>T (p.Gln631His) c.*205A>T (n.*205A>T) c.3441+16224T>A (n.3441+16224T>A) c.*637A>T (n.*637A>T) c.1812A>T (p.Gln604His) c.276+16224T>A (n.276+16224T>A) c.*220+6320A>T (n.*220+6320A>T) c.936A>T (p.Gln312His) c.963A>T (p.Gln321His) c.1818A>T (p.Gln606His) c.1632A>T (p.Gln544His) c.1551A>T (p.Gln517His) c.1257A>T (p.Gln419His) c.1638A>T (p.Gln546His) | |
2 | g.48687904T>C | CA426125358 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1893A>G (p.Gln631=) c.*205A>G (n.*205A>G) c.3441+16224T>C (n.3441+16224T>C) c.*637A>G (n.*637A>G) c.1812A>G (p.Gln604=) c.276+16224T>C (n.276+16224T>C) c.*220+6320A>G (n.*220+6320A>G) c.936A>G (p.Gln312=) c.963A>G (p.Gln321=) c.1818A>G (p.Gln606=) c.1632A>G (p.Gln544=) c.1551A>G (p.Gln517=) c.1257A>G (p.Gln419=) c.1638A>G (p.Gln546=) | |
2 | g.48687904T>G | CA346743918 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1893A>C (p.Gln631His) c.*205A>C (n.*205A>C) c.3441+16224T>G (n.3441+16224T>G) c.*637A>C (n.*637A>C) c.1812A>C (p.Gln604His) c.276+16224T>G (n.276+16224T>G) c.*220+6320A>C (n.*220+6320A>C) c.936A>C (p.Gln312His) c.963A>C (p.Gln321His) c.1818A>C (p.Gln606His) c.1632A>C (p.Gln544His) c.1551A>C (p.Gln517His) c.1257A>C (p.Gln419His) c.1638A>C (p.Gln546His) | |
2 | g.48687905T>A | CA346743920 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1892A>T (p.Gln631Leu) c.*204A>T (n.*204A>T) c.3441+16225T>A (n.3441+16225T>A) c.*636A>T (n.*636A>T) c.1811A>T (p.Gln604Leu) c.276+16225T>A (n.276+16225T>A) c.*220+6319A>T (n.*220+6319A>T) c.935A>T (p.Gln312Leu) c.962A>T (p.Gln321Leu) c.1817A>T (p.Gln606Leu) c.1631A>T (p.Gln544Leu) c.1550A>T (p.Gln517Leu) c.1256A>T (p.Gln419Leu) c.1637A>T (p.Gln546Leu) | |
2 | g.48687905T>C | CA346743923 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1892A>G (p.Gln631Arg) c.*204A>G (n.*204A>G) c.3441+16225T>C (n.3441+16225T>C) c.*636A>G (n.*636A>G) c.1811A>G (p.Gln604Arg) c.276+16225T>C (n.276+16225T>C) c.*220+6319A>G (n.*220+6319A>G) c.935A>G (p.Gln312Arg) c.962A>G (p.Gln321Arg) c.1817A>G (p.Gln606Arg) c.1631A>G (p.Gln544Arg) c.1550A>G (p.Gln517Arg) c.1256A>G (p.Gln419Arg) c.1637A>G (p.Gln546Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687905T>G | CA346743925 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1892A>C (p.Gln631Pro) c.*204A>C (n.*204A>C) c.3441+16225T>G (n.3441+16225T>G) c.*636A>C (n.*636A>C) c.1811A>C (p.Gln604Pro) c.276+16225T>G (n.276+16225T>G) c.*220+6319A>C (n.*220+6319A>C) c.935A>C (p.Gln312Pro) c.962A>C (p.Gln321Pro) c.1817A>C (p.Gln606Pro) c.1631A>C (p.Gln544Pro) c.1550A>C (p.Gln517Pro) c.1256A>C (p.Gln419Pro) c.1637A>C (p.Gln546Pro) | |
2 | g.48687905T= | CA1248600899 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1892A= (p.Gln631=) c.*204A= (n.*204A=) c.3441+16225T= (n.3441+16225T=) c.*636A= (n.*636A=) c.1811A= (p.Gln604=) c.276+16225T= (n.276+16225T=) c.*220+6319A= (n.*220+6319A=) c.935A= (p.Gln312=) c.962A= (p.Gln321=) c.1817A= (p.Gln606=) c.1631A= (p.Gln544=) c.1550A= (p.Gln517=) c.1256A= (p.Gln419=) c.1637A= (p.Gln546=) | |
2 | g.48687906G>A | CA346743936 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1891C>T (p.Gln631Ter) c.*203C>T (n.*203C>T) c.3441+16226G>A (n.3441+16226G>A) c.*635C>T (n.*635C>T) c.1810C>T (p.Gln604Ter) c.276+16226G>A (n.276+16226G>A) c.*220+6318C>T (n.*220+6318C>T) c.934C>T (p.Gln312Ter) c.961C>T (p.Gln321Ter) c.1816C>T (p.Gln606Ter) c.1630C>T (p.Gln544Ter) c.1549C>T (p.Gln517Ter) c.1255C>T (p.Gln419Ter) c.1636C>T (p.Gln546Ter) | |
2 | g.48687906G>C | CA346743938 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1891C>G (p.Gln631Glu) c.*203C>G (n.*203C>G) c.3441+16226G>C (n.3441+16226G>C) c.*635C>G (n.*635C>G) c.1810C>G (p.Gln604Glu) c.276+16226G>C (n.276+16226G>C) c.*220+6318C>G (n.*220+6318C>G) c.934C>G (p.Gln312Glu) c.961C>G (p.Gln321Glu) c.1816C>G (p.Gln606Glu) c.1630C>G (p.Gln544Glu) c.1549C>G (p.Gln517Glu) c.1255C>G (p.Gln419Glu) c.1636C>G (p.Gln546Glu) | |
2 | g.48687906G>T | CA346743946 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1891C>A (p.Gln631Lys) c.*203C>A (n.*203C>A) c.3441+16226G>T (n.3441+16226G>T) c.*635C>A (n.*635C>A) c.1810C>A (p.Gln604Lys) c.276+16226G>T (n.276+16226G>T) c.*220+6318C>A (n.*220+6318C>A) c.934C>A (p.Gln312Lys) c.961C>A (p.Gln321Lys) c.1816C>A (p.Gln606Lys) c.1630C>A (p.Gln544Lys) c.1549C>A (p.Gln517Lys) c.1255C>A (p.Gln419Lys) c.1636C>A (p.Gln546Lys) | |
2 | g.48687907G>A | CA426125366 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1890C>T (p.Phe630=) c.*202C>T (n.*202C>T) c.3441+16227G>A (n.3441+16227G>A) c.*634C>T (n.*634C>T) c.1809C>T (p.Phe603=) c.276+16227G>A (n.276+16227G>A) c.*220+6317C>T (n.*220+6317C>T) c.933C>T (p.Phe311=) c.960C>T (p.Phe320=) c.1815C>T (p.Phe605=) c.1629C>T (p.Phe543=) c.1548C>T (p.Phe516=) c.1254C>T (p.Phe418=) c.1635C>T (p.Phe545=) | COSMIC |
2 | g.48687907G>C | CA346743949 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1890C>G (p.Phe630Leu) c.*202C>G (n.*202C>G) c.3441+16227G>C (n.3441+16227G>C) c.*634C>G (n.*634C>G) c.1809C>G (p.Phe603Leu) c.276+16227G>C (n.276+16227G>C) c.*220+6317C>G (n.*220+6317C>G) c.933C>G (p.Phe311Leu) c.960C>G (p.Phe320Leu) c.1815C>G (p.Phe605Leu) c.1629C>G (p.Phe543Leu) c.1548C>G (p.Phe516Leu) c.1254C>G (p.Phe418Leu) c.1635C>G (p.Phe545Leu) | |
2 | g.48687907G>T | CA346743957 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1890C>A (p.Phe630Leu) c.*202C>A (n.*202C>A) c.3441+16227G>T (n.3441+16227G>T) c.*634C>A (n.*634C>A) c.1809C>A (p.Phe603Leu) c.276+16227G>T (n.276+16227G>T) c.*220+6317C>A (n.*220+6317C>A) c.933C>A (p.Phe311Leu) c.960C>A (p.Phe320Leu) c.1815C>A (p.Phe605Leu) c.1629C>A (p.Phe543Leu) c.1548C>A (p.Phe516Leu) c.1254C>A (p.Phe418Leu) c.1635C>A (p.Phe545Leu) | |
2 | g.48687908A>C | CA346743962 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1889T>G (p.Phe630Cys) c.*201T>G (n.*201T>G) c.3441+16228A>C (n.3441+16228A>C) c.*633T>G (n.*633T>G) c.1808T>G (p.Phe603Cys) c.276+16228A>C (n.276+16228A>C) c.*220+6316T>G (n.*220+6316T>G) c.932T>G (p.Phe311Cys) c.959T>G (p.Phe320Cys) c.1814T>G (p.Phe605Cys) c.1628T>G (p.Phe543Cys) c.1547T>G (p.Phe516Cys) c.1253T>G (p.Phe418Cys) c.1634T>G (p.Phe545Cys) | |
2 | g.48687908A>G | CA346743964 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1889T>C (p.Phe630Ser) c.*201T>C (n.*201T>C) c.3441+16228A>G (n.3441+16228A>G) c.*633T>C (n.*633T>C) c.1808T>C (p.Phe603Ser) c.276+16228A>G (n.276+16228A>G) c.*220+6316T>C (n.*220+6316T>C) c.932T>C (p.Phe311Ser) c.959T>C (p.Phe320Ser) c.1814T>C (p.Phe605Ser) c.1628T>C (p.Phe543Ser) c.1547T>C (p.Phe516Ser) c.1253T>C (p.Phe418Ser) c.1634T>C (p.Phe545Ser) | |
2 | g.48687908A>T | CA346743959 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1889T>A (p.Phe630Tyr) c.*201T>A (n.*201T>A) c.3441+16228A>T (n.3441+16228A>T) c.*633T>A (n.*633T>A) c.1808T>A (p.Phe603Tyr) c.276+16228A>T (n.276+16228A>T) c.*220+6316T>A (n.*220+6316T>A) c.932T>A (p.Phe311Tyr) c.959T>A (p.Phe320Tyr) c.1814T>A (p.Phe605Tyr) c.1628T>A (p.Phe543Tyr) c.1547T>A (p.Phe516Tyr) c.1253T>A (p.Phe418Tyr) c.1634T>A (p.Phe545Tyr) | |
2 | g.48687909A>C | CA346743966 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1888T>G (p.Phe630Val) c.*200T>G (n.*200T>G) c.3441+16229A>C (n.3441+16229A>C) c.*632T>G (n.*632T>G) c.1807T>G (p.Phe603Val) c.276+16229A>C (n.276+16229A>C) c.*220+6315T>G (n.*220+6315T>G) c.931T>G (p.Phe311Val) c.958T>G (p.Phe320Val) c.1813T>G (p.Phe605Val) c.1627T>G (p.Phe543Val) c.1546T>G (p.Phe516Val) c.1252T>G (p.Phe418Val) c.1633T>G (p.Phe545Val) | |
2 | g.48687909A>G | CA346743967 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1888T>C (p.Phe630Leu) c.*200T>C (n.*200T>C) c.3441+16229A>G (n.3441+16229A>G) c.*632T>C (n.*632T>C) c.1807T>C (p.Phe603Leu) c.276+16229A>G (n.276+16229A>G) c.*220+6315T>C (n.*220+6315T>C) c.931T>C (p.Phe311Leu) c.958T>C (p.Phe320Leu) c.1813T>C (p.Phe605Leu) c.1627T>C (p.Phe543Leu) c.1546T>C (p.Phe516Leu) c.1252T>C (p.Phe418Leu) c.1633T>C (p.Phe545Leu) | |
2 | g.48687909A>T | CA346743970 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1888T>A (p.Phe630Ile) c.*200T>A (n.*200T>A) c.3441+16229A>T (n.3441+16229A>T) c.*632T>A (n.*632T>A) c.1807T>A (p.Phe603Ile) c.276+16229A>T (n.276+16229A>T) c.*220+6315T>A (n.*220+6315T>A) c.931T>A (p.Phe311Ile) c.958T>A (p.Phe320Ile) c.1813T>A (p.Phe605Ile) c.1627T>A (p.Phe543Ile) c.1546T>A (p.Phe516Ile) c.1252T>A (p.Phe418Ile) c.1633T>A (p.Phe545Ile) | |
2 | g.48687910T>A | CA426125373 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1887A>T (p.Thr629=) c.*199A>T (n.*199A>T) c.3441+16230T>A (n.3441+16230T>A) c.*631A>T (n.*631A>T) c.1806A>T (p.Thr602=) c.276+16230T>A (n.276+16230T>A) c.*220+6314A>T (n.*220+6314A>T) c.930A>T (p.Thr310=) c.957A>T (p.Thr319=) c.1812A>T (p.Thr604=) c.1626A>T (p.Thr542=) c.1545A>T (p.Thr515=) c.1251A>T (p.Thr417=) c.1632A>T (p.Thr544=) | |
2 | g.48687910T>C | CA426125374 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1887A>G (p.Thr629=) c.*199A>G (n.*199A>G) c.3441+16230T>C (n.3441+16230T>C) c.*631A>G (n.*631A>G) c.1806A>G (p.Thr602=) c.276+16230T>C (n.276+16230T>C) c.*220+6314A>G (n.*220+6314A>G) c.930A>G (p.Thr310=) c.957A>G (p.Thr319=) c.1812A>G (p.Thr604=) c.1626A>G (p.Thr542=) c.1545A>G (p.Thr515=) c.1251A>G (p.Thr417=) c.1632A>G (p.Thr544=) | |
2 | g.48687910T>G | CA426125375 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1887A>C (p.Thr629=) c.*199A>C (n.*199A>C) c.3441+16230T>G (n.3441+16230T>G) c.*631A>C (n.*631A>C) c.1806A>C (p.Thr602=) c.276+16230T>G (n.276+16230T>G) c.*220+6314A>C (n.*220+6314A>C) c.930A>C (p.Thr310=) c.957A>C (p.Thr319=) c.1812A>C (p.Thr604=) c.1626A>C (p.Thr542=) c.1545A>C (p.Thr515=) c.1251A>C (p.Thr417=) c.1632A>C (p.Thr544=) | |
2 | g.48687911G>A | CA346743972 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1886C>T (p.Thr629Ile) c.*198C>T (n.*198C>T) c.3441+16231G>A (n.3441+16231G>A) c.*630C>T (n.*630C>T) c.1805C>T (p.Thr602Ile) c.276+16231G>A (n.276+16231G>A) c.*220+6313C>T (n.*220+6313C>T) c.929C>T (p.Thr310Ile) c.956C>T (p.Thr319Ile) c.1811C>T (p.Thr604Ile) c.1625C>T (p.Thr542Ile) c.1544C>T (p.Thr515Ile) c.1250C>T (p.Thr417Ile) c.1631C>T (p.Thr544Ile) | gnomAD v4 |
2 | g.48687911G>C | CA346743973 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1886C>G (p.Thr629Arg) c.*198C>G (n.*198C>G) c.3441+16231G>C (n.3441+16231G>C) c.*630C>G (n.*630C>G) c.1805C>G (p.Thr602Arg) c.276+16231G>C (n.276+16231G>C) c.*220+6313C>G (n.*220+6313C>G) c.929C>G (p.Thr310Arg) c.956C>G (p.Thr319Arg) c.1811C>G (p.Thr604Arg) c.1625C>G (p.Thr542Arg) c.1544C>G (p.Thr515Arg) c.1250C>G (p.Thr417Arg) c.1631C>G (p.Thr544Arg) | |
2 | g.48687911G>T | CA346743976 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1886C>A (p.Thr629Lys) c.*198C>A (n.*198C>A) c.3441+16231G>T (n.3441+16231G>T) c.*630C>A (n.*630C>A) c.1805C>A (p.Thr602Lys) c.276+16231G>T (n.276+16231G>T) c.*220+6313C>A (n.*220+6313C>A) c.929C>A (p.Thr310Lys) c.956C>A (p.Thr319Lys) c.1811C>A (p.Thr604Lys) c.1625C>A (p.Thr542Lys) c.1544C>A (p.Thr515Lys) c.1250C>A (p.Thr417Lys) c.1631C>A (p.Thr544Lys) | |
2 | g.48687912T>A | CA346743977 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1885A>T (p.Thr629Ser) c.*197A>T (n.*197A>T) c.3441+16232T>A (n.3441+16232T>A) c.*629A>T (n.*629A>T) c.1804A>T (p.Thr602Ser) c.276+16232T>A (n.276+16232T>A) c.*220+6312A>T (n.*220+6312A>T) c.928A>T (p.Thr310Ser) c.955A>T (p.Thr319Ser) c.1810A>T (p.Thr604Ser) c.1624A>T (p.Thr542Ser) c.1543A>T (p.Thr515Ser) c.1249A>T (p.Thr417Ser) c.1630A>T (p.Thr544Ser) | |
2 | g.48687912T>C | CA346743979 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1885A>G (p.Thr629Ala) c.*197A>G (n.*197A>G) c.3441+16232T>C (n.3441+16232T>C) c.*629A>G (n.*629A>G) c.1804A>G (p.Thr602Ala) c.276+16232T>C (n.276+16232T>C) c.*220+6312A>G (n.*220+6312A>G) c.928A>G (p.Thr310Ala) c.955A>G (p.Thr319Ala) c.1810A>G (p.Thr604Ala) c.1624A>G (p.Thr542Ala) c.1543A>G (p.Thr515Ala) c.1249A>G (p.Thr417Ala) c.1630A>G (p.Thr544Ala) | gnomAD v4 |
2 | g.48687912T>G | CA346743978 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1885A>C (p.Thr629Pro) c.*197A>C (n.*197A>C) c.3441+16232T>G (n.3441+16232T>G) c.*629A>C (n.*629A>C) c.1804A>C (p.Thr602Pro) c.276+16232T>G (n.276+16232T>G) c.*220+6312A>C (n.*220+6312A>C) c.928A>C (p.Thr310Pro) c.955A>C (p.Thr319Pro) c.1810A>C (p.Thr604Pro) c.1624A>C (p.Thr542Pro) c.1543A>C (p.Thr515Pro) c.1249A>C (p.Thr417Pro) c.1630A>C (p.Thr544Pro) | |
2 | g.48687913C>A | CA346743980 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1884G>T (p.Lys628Asn) c.*196G>T (n.*196G>T) c.3441+16233C>A (n.3441+16233C>A) c.*628G>T (n.*628G>T) c.1803G>T (p.Lys601Asn) c.276+16233C>A (n.276+16233C>A) c.*220+6311G>T (n.*220+6311G>T) c.927G>T (p.Lys309Asn) c.954G>T (p.Lys318Asn) c.1809G>T (p.Lys603Asn) c.1623G>T (p.Lys541Asn) c.1542G>T (p.Lys514Asn) c.1248G>T (p.Lys416Asn) c.1629G>T (p.Lys543Asn) | |
2 | g.48687913C>G | CA346743981 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1884G>C (p.Lys628Asn) c.*196G>C (n.*196G>C) c.3441+16233C>G (n.3441+16233C>G) c.*628G>C (n.*628G>C) c.1803G>C (p.Lys601Asn) c.276+16233C>G (n.276+16233C>G) c.*220+6311G>C (n.*220+6311G>C) c.927G>C (p.Lys309Asn) c.954G>C (p.Lys318Asn) c.1809G>C (p.Lys603Asn) c.1623G>C (p.Lys541Asn) c.1542G>C (p.Lys514Asn) c.1248G>C (p.Lys416Asn) c.1629G>C (p.Lys543Asn) | gnomAD v4 |
2 | g.48687913C>T | CA426125382 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1884G>A (p.Lys628=) c.*196G>A (n.*196G>A) c.3441+16233C>T (n.3441+16233C>T) c.*628G>A (n.*628G>A) c.1803G>A (p.Lys601=) c.276+16233C>T (n.276+16233C>T) c.*220+6311G>A (n.*220+6311G>A) c.927G>A (p.Lys309=) c.954G>A (p.Lys318=) c.1809G>A (p.Lys603=) c.1623G>A (p.Lys541=) c.1542G>A (p.Lys514=) c.1248G>A (p.Lys416=) c.1629G>A (p.Lys543=) | |
2 | g.48687914T>A | CA346743983 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1883A>T (p.Lys628Met) c.*195A>T (n.*195A>T) c.3441+16234T>A (n.3441+16234T>A) c.*627A>T (n.*627A>T) c.1802A>T (p.Lys601Met) c.276+16234T>A (n.276+16234T>A) c.*220+6310A>T (n.*220+6310A>T) c.926A>T (p.Lys309Met) c.953A>T (p.Lys318Met) c.1808A>T (p.Lys603Met) c.1622A>T (p.Lys541Met) c.1541A>T (p.Lys514Met) c.1247A>T (p.Lys416Met) c.1628A>T (p.Lys543Met) | |
2 | g.48687914T>C | CA346743985 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1883A>G (p.Lys628Arg) c.*195A>G (n.*195A>G) c.3441+16234T>C (n.3441+16234T>C) c.*627A>G (n.*627A>G) c.1802A>G (p.Lys601Arg) c.276+16234T>C (n.276+16234T>C) c.*220+6310A>G (n.*220+6310A>G) c.926A>G (p.Lys309Arg) c.953A>G (p.Lys318Arg) c.1808A>G (p.Lys603Arg) c.1622A>G (p.Lys541Arg) c.1541A>G (p.Lys514Arg) c.1247A>G (p.Lys416Arg) c.1628A>G (p.Lys543Arg) | |
2 | g.48687914T>G | CA346743987 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1883A>C (p.Lys628Thr) c.*195A>C (n.*195A>C) c.3441+16234T>G (n.3441+16234T>G) c.*627A>C (n.*627A>C) c.1802A>C (p.Lys601Thr) c.276+16234T>G (n.276+16234T>G) c.*220+6310A>C (n.*220+6310A>C) c.926A>C (p.Lys309Thr) c.953A>C (p.Lys318Thr) c.1808A>C (p.Lys603Thr) c.1622A>C (p.Lys541Thr) c.1541A>C (p.Lys514Thr) c.1247A>C (p.Lys416Thr) c.1628A>C (p.Lys543Thr) |