Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
2 | g.48687915T>A | CA346743996 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1882A>T (p.Lys628Ter) c.*194A>T (n.*194A>T) c.3441+16235T>A (n.3441+16235T>A) c.*626A>T (n.*626A>T) c.1801A>T (p.Lys601Ter) c.276+16235T>A (n.276+16235T>A) c.*220+6309A>T (n.*220+6309A>T) c.925A>T (p.Lys309Ter) c.952A>T (p.Lys318Ter) c.1807A>T (p.Lys603Ter) c.1621A>T (p.Lys541Ter) c.1540A>T (p.Lys514Ter) c.1246A>T (p.Lys416Ter) c.1627A>T (p.Lys543Ter) | |
2 | g.48687915T>C | CA346743999 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1882A>G (p.Lys628Glu) c.*194A>G (n.*194A>G) c.3441+16235T>C (n.3441+16235T>C) c.*626A>G (n.*626A>G) c.1801A>G (p.Lys601Glu) c.276+16235T>C (n.276+16235T>C) c.*220+6309A>G (n.*220+6309A>G) c.925A>G (p.Lys309Glu) c.952A>G (p.Lys318Glu) c.1807A>G (p.Lys603Glu) c.1621A>G (p.Lys541Glu) c.1540A>G (p.Lys514Glu) c.1246A>G (p.Lys416Glu) c.1627A>G (p.Lys543Glu) | |
2 | g.48687915T>G | CA346743995 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1882A>C (p.Lys628Gln) c.*194A>C (n.*194A>C) c.3441+16235T>G (n.3441+16235T>G) c.*626A>C (n.*626A>C) c.1801A>C (p.Lys601Gln) c.276+16235T>G (n.276+16235T>G) c.*220+6309A>C (n.*220+6309A>C) c.925A>C (p.Lys309Gln) c.952A>C (p.Lys318Gln) c.1807A>C (p.Lys603Gln) c.1621A>C (p.Lys541Gln) c.1540A>C (p.Lys514Gln) c.1246A>C (p.Lys416Gln) c.1627A>C (p.Lys543Gln) | |
2 | g.48687916A>C | CA426125394 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1881T>G (p.Thr627=) c.*193T>G (n.*193T>G) c.3441+16236A>C (n.3441+16236A>C) c.*625T>G (n.*625T>G) c.1800T>G (p.Thr600=) c.276+16236A>C (n.276+16236A>C) c.*220+6308T>G (n.*220+6308T>G) c.924T>G (p.Thr308=) c.951T>G (p.Thr317=) c.1806T>G (p.Thr602=) c.1620T>G (p.Thr540=) c.1539T>G (p.Thr513=) c.1245T>G (p.Thr415=) c.1626T>G (p.Thr542=) | |
2 | g.48687916A>G | CA426125395 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1881T>C (p.Thr627=) c.*193T>C (n.*193T>C) c.3441+16236A>G (n.3441+16236A>G) c.*625T>C (n.*625T>C) c.1800T>C (p.Thr600=) c.276+16236A>G (n.276+16236A>G) c.*220+6308T>C (n.*220+6308T>C) c.924T>C (p.Thr308=) c.951T>C (p.Thr317=) c.1806T>C (p.Thr602=) c.1620T>C (p.Thr540=) c.1539T>C (p.Thr513=) c.1245T>C (p.Thr415=) c.1626T>C (p.Thr542=) | |
2 | g.48687916A>T | CA426125396 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1881T>A (p.Thr627=) c.*193T>A (n.*193T>A) c.3441+16236A>T (n.3441+16236A>T) c.*625T>A (n.*625T>A) c.1800T>A (p.Thr600=) c.276+16236A>T (n.276+16236A>T) c.*220+6308T>A (n.*220+6308T>A) c.924T>A (p.Thr308=) c.951T>A (p.Thr317=) c.1806T>A (p.Thr602=) c.1620T>A (p.Thr540=) c.1539T>A (p.Thr513=) c.1245T>A (p.Thr415=) c.1626T>A (p.Thr542=) | |
2 | g.48687917G>A | CA346744001 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1880C>T (p.Thr627Ile) c.*192C>T (n.*192C>T) c.3441+16237G>A (n.3441+16237G>A) c.*624C>T (n.*624C>T) c.1799C>T (p.Thr600Ile) c.276+16237G>A (n.276+16237G>A) c.*220+6307C>T (n.*220+6307C>T) c.923C>T (p.Thr308Ile) c.950C>T (p.Thr317Ile) c.1805C>T (p.Thr602Ile) c.1619C>T (p.Thr540Ile) c.1538C>T (p.Thr513Ile) c.1244C>T (p.Thr415Ile) c.1625C>T (p.Thr542Ile) | |
2 | g.48687917G>C | CA346744003 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1880C>G (p.Thr627Ser) c.*192C>G (n.*192C>G) c.3441+16237G>C (n.3441+16237G>C) c.*624C>G (n.*624C>G) c.1799C>G (p.Thr600Ser) c.276+16237G>C (n.276+16237G>C) c.*220+6307C>G (n.*220+6307C>G) c.923C>G (p.Thr308Ser) c.950C>G (p.Thr317Ser) c.1805C>G (p.Thr602Ser) c.1619C>G (p.Thr540Ser) c.1538C>G (p.Thr513Ser) c.1244C>G (p.Thr415Ser) c.1625C>G (p.Thr542Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687917G= | CA1248600900 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1880C= (p.Thr627=) c.*192C= (n.*192C=) c.3441+16237G= (n.3441+16237G=) c.*624C= (n.*624C=) c.1799C= (p.Thr600=) c.276+16237G= (n.276+16237G=) c.*220+6307C= (n.*220+6307C=) c.923C= (p.Thr308=) c.950C= (p.Thr317=) c.1805C= (p.Thr602=) c.1619C= (p.Thr540=) c.1538C= (p.Thr513=) c.1244C= (p.Thr415=) c.1625C= (p.Thr542=) | |
2 | g.48687917G>T | CA346744005 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1880C>A (p.Thr627Asn) c.*192C>A (n.*192C>A) c.3441+16237G>T (n.3441+16237G>T) c.*624C>A (n.*624C>A) c.1799C>A (p.Thr600Asn) c.276+16237G>T (n.276+16237G>T) c.*220+6307C>A (n.*220+6307C>A) c.923C>A (p.Thr308Asn) c.950C>A (p.Thr317Asn) c.1805C>A (p.Thr602Asn) c.1619C>A (p.Thr540Asn) c.1538C>A (p.Thr513Asn) c.1244C>A (p.Thr415Asn) c.1625C>A (p.Thr542Asn) | |
2 | g.48687918T>A | CA346744007 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1879A>T (p.Thr627Ser) c.*191A>T (n.*191A>T) c.3441+16238T>A (n.3441+16238T>A) c.*623A>T (n.*623A>T) c.1798A>T (p.Thr600Ser) c.276+16238T>A (n.276+16238T>A) c.*220+6306A>T (n.*220+6306A>T) c.922A>T (p.Thr308Ser) c.949A>T (p.Thr317Ser) c.1804A>T (p.Thr602Ser) c.1618A>T (p.Thr540Ser) c.1537A>T (p.Thr513Ser) c.1243A>T (p.Thr415Ser) c.1624A>T (p.Thr542Ser) | |
2 | g.48687918T>C | CA346744009 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1879A>G (p.Thr627Ala) c.*191A>G (n.*191A>G) c.3441+16238T>C (n.3441+16238T>C) c.*623A>G (n.*623A>G) c.1798A>G (p.Thr600Ala) c.276+16238T>C (n.276+16238T>C) c.*220+6306A>G (n.*220+6306A>G) c.922A>G (p.Thr308Ala) c.949A>G (p.Thr317Ala) c.1804A>G (p.Thr602Ala) c.1618A>G (p.Thr540Ala) c.1537A>G (p.Thr513Ala) c.1243A>G (p.Thr415Ala) c.1624A>G (p.Thr542Ala) | |
2 | g.48687918T>G | CA346744010 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1879A>C (p.Thr627Pro) c.*191A>C (n.*191A>C) c.3441+16238T>G (n.3441+16238T>G) c.*623A>C (n.*623A>C) c.1798A>C (p.Thr600Pro) c.276+16238T>G (n.276+16238T>G) c.*220+6306A>C (n.*220+6306A>C) c.922A>C (p.Thr308Pro) c.949A>C (p.Thr317Pro) c.1804A>C (p.Thr602Pro) c.1618A>C (p.Thr540Pro) c.1537A>C (p.Thr513Pro) c.1243A>C (p.Thr415Pro) c.1624A>C (p.Thr542Pro) | |
2 | g.48687919G>A | CA426125399 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1878C>T (p.Phe626=) c.*190C>T (n.*190C>T) c.3441+16239G>A (n.3441+16239G>A) c.*622C>T (n.*622C>T) c.1797C>T (p.Phe599=) c.276+16239G>A (n.276+16239G>A) c.*220+6305C>T (n.*220+6305C>T) c.921C>T (p.Phe307=) c.948C>T (p.Phe316=) c.1803C>T (p.Phe601=) c.1617C>T (p.Phe539=) c.1536C>T (p.Phe512=) c.1242C>T (p.Phe414=) c.1623C>T (p.Phe541=) | dbSNP COSMIC |
2 | g.48687919G>C | CA346744012 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1878C>G (p.Phe626Leu) c.*190C>G (n.*190C>G) c.3441+16239G>C (n.3441+16239G>C) c.*622C>G (n.*622C>G) c.1797C>G (p.Phe599Leu) c.276+16239G>C (n.276+16239G>C) c.*220+6305C>G (n.*220+6305C>G) c.921C>G (p.Phe307Leu) c.948C>G (p.Phe316Leu) c.1803C>G (p.Phe601Leu) c.1617C>G (p.Phe539Leu) c.1536C>G (p.Phe512Leu) c.1242C>G (p.Phe414Leu) c.1623C>G (p.Phe541Leu) | |
2 | g.48687919G= | CA1248600901 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1878C= (p.Phe626=) c.*190C= (n.*190C=) c.3441+16239G= (n.3441+16239G=) c.*622C= (n.*622C=) c.1797C= (p.Phe599=) c.276+16239G= (n.276+16239G=) c.*220+6305C= (n.*220+6305C=) c.921C= (p.Phe307=) c.948C= (p.Phe316=) c.1803C= (p.Phe601=) c.1617C= (p.Phe539=) c.1536C= (p.Phe512=) c.1242C= (p.Phe414=) c.1623C= (p.Phe541=) | |
2 | g.48687919G>T | CA346744014 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1878C>A (p.Phe626Leu) c.*190C>A (n.*190C>A) c.3441+16239G>T (n.3441+16239G>T) c.*622C>A (n.*622C>A) c.1797C>A (p.Phe599Leu) c.276+16239G>T (n.276+16239G>T) c.*220+6305C>A (n.*220+6305C>A) c.921C>A (p.Phe307Leu) c.948C>A (p.Phe316Leu) c.1803C>A (p.Phe601Leu) c.1617C>A (p.Phe539Leu) c.1536C>A (p.Phe512Leu) c.1242C>A (p.Phe414Leu) c.1623C>A (p.Phe541Leu) | |
2 | g.48687920A>C | CA346744025 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1877T>G (p.Phe626Cys) c.*189T>G (n.*189T>G) c.3441+16240A>C (n.3441+16240A>C) c.*621T>G (n.*621T>G) c.1796T>G (p.Phe599Cys) c.276+16240A>C (n.276+16240A>C) c.*220+6304T>G (n.*220+6304T>G) c.920T>G (p.Phe307Cys) c.947T>G (p.Phe316Cys) c.1802T>G (p.Phe601Cys) c.1616T>G (p.Phe539Cys) c.1535T>G (p.Phe512Cys) c.1241T>G (p.Phe414Cys) c.1622T>G (p.Phe541Cys) | |
2 | g.48687920A>G | CA346744031 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1877T>C (p.Phe626Ser) c.*189T>C (n.*189T>C) c.3441+16240A>G (n.3441+16240A>G) c.*621T>C (n.*621T>C) c.1796T>C (p.Phe599Ser) c.276+16240A>G (n.276+16240A>G) c.*220+6304T>C (n.*220+6304T>C) c.920T>C (p.Phe307Ser) c.947T>C (p.Phe316Ser) c.1802T>C (p.Phe601Ser) c.1616T>C (p.Phe539Ser) c.1535T>C (p.Phe512Ser) c.1241T>C (p.Phe414Ser) c.1622T>C (p.Phe541Ser) | |
2 | g.48687920A>T | CA346744027 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1877T>A (p.Phe626Tyr) c.*189T>A (n.*189T>A) c.3441+16240A>T (n.3441+16240A>T) c.*621T>A (n.*621T>A) c.1796T>A (p.Phe599Tyr) c.276+16240A>T (n.276+16240A>T) c.*220+6304T>A (n.*220+6304T>A) c.920T>A (p.Phe307Tyr) c.947T>A (p.Phe316Tyr) c.1802T>A (p.Phe601Tyr) c.1616T>A (p.Phe539Tyr) c.1535T>A (p.Phe512Tyr) c.1241T>A (p.Phe414Tyr) c.1622T>A (p.Phe541Tyr) | |
2 | g.48687920_48687922delinsAAT | CA1248600902 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1875_1877delinsATT (p.Ile625=) c.*187_*189delinsATT (n.*187_*189delinsATT) c.3441+16240_3441+16242delinsAAT (n.3441+16240_3441+16242delinsAAT) c.*619_*621delinsATT (n.*619_*621delinsATT) c.1794_1796delinsATT (p.Ile598=) c.276+16240_276+16242delinsAAT (n.276+16240_276+16242delinsAAT) c.*220+6302_*220+6304delinsATT (n.*220+6302_*220+6304delinsATT) c.918_920delinsATT (p.Ile306=) c.945_947delinsATT (p.Ile315=) c.1800_1802delinsATT (p.Ile600=) c.1614_1616delinsATT (p.Ile538=) c.1533_1535delinsATT (p.Ile511=) c.1239_1241delinsATT (p.Ile413=) c.1620_1622delinsATT (p.Ile540=) | |
2 | g.48687921A>C | CA346744034 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1876T>G (p.Phe626Val) c.*188T>G (n.*188T>G) c.3441+16241A>C (n.3441+16241A>C) c.*620T>G (n.*620T>G) c.1795T>G (p.Phe599Val) c.276+16241A>C (n.276+16241A>C) c.*220+6303T>G (n.*220+6303T>G) c.919T>G (p.Phe307Val) c.946T>G (p.Phe316Val) c.1801T>G (p.Phe601Val) c.1615T>G (p.Phe539Val) c.1534T>G (p.Phe512Val) c.1240T>G (p.Phe414Val) c.1621T>G (p.Phe541Val) | |
2 | g.48687921A>G | CA346744035 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1876T>C (p.Phe626Leu) c.*188T>C (n.*188T>C) c.3441+16241A>G (n.3441+16241A>G) c.*620T>C (n.*620T>C) c.1795T>C (p.Phe599Leu) c.276+16241A>G (n.276+16241A>G) c.*220+6303T>C (n.*220+6303T>C) c.919T>C (p.Phe307Leu) c.946T>C (p.Phe316Leu) c.1801T>C (p.Phe601Leu) c.1615T>C (p.Phe539Leu) c.1534T>C (p.Phe512Leu) c.1240T>C (p.Phe414Leu) c.1621T>C (p.Phe541Leu) | |
2 | g.48687921A>T | CA346744037 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1876T>A (p.Phe626Ile) c.*188T>A (n.*188T>A) c.3441+16241A>T (n.3441+16241A>T) c.*620T>A (n.*620T>A) c.1795T>A (p.Phe599Ile) c.276+16241A>T (n.276+16241A>T) c.*220+6303T>A (n.*220+6303T>A) c.919T>A (p.Phe307Ile) c.946T>A (p.Phe316Ile) c.1801T>A (p.Phe601Ile) c.1615T>A (p.Phe539Ile) c.1534T>A (p.Phe512Ile) c.1240T>A (p.Phe414Ile) c.1621T>A (p.Phe541Ile) | |
2 | g.48687923_48687924del | CA532706160 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1875_1876del (p.Phe626HisfsTer2) c.*187_*188del (n.*187_*188del) c.3441+16243_3441+16244del (n.3441+16243_3441+16244del) c.*619_*620del (n.*619_*620del) c.1794_1795del (p.Phe599HisfsTer2) c.276+16243_276+16244del (n.276+16243_276+16244del) c.*220+6302_*220+6303del (n.*220+6302_*220+6303del) c.918_919del (p.Phe307HisfsTer2) c.945_946del (p.Phe316HisfsTer2) c.1800_1801del (p.Phe601HisfsTer2) c.1614_1615del (p.Phe539HisfsTer2) c.1533_1534del (p.Phe512HisfsTer2) c.1239_1240del (p.Phe414HisfsTer2) c.1620_1621del (p.Phe541HisfsTer2) | dbSNP gnomAD v2 |
2 | g.48687922T>A | CA1652973 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1875A>T (p.Ile625=) c.*187A>T (n.*187A>T) c.3441+16242T>A (n.3441+16242T>A) c.*619A>T (n.*619A>T) c.1794A>T (p.Ile598=) c.276+16242T>A (n.276+16242T>A) c.*220+6302A>T (n.*220+6302A>T) c.918A>T (p.Ile306=) c.945A>T (p.Ile315=) c.1800A>T (p.Ile600=) c.1614A>T (p.Ile538=) c.1533A>T (p.Ile511=) c.1239A>T (p.Ile413=) c.1620A>T (p.Ile540=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687922T>C | CA346744038 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1875A>G (p.Ile625Met) c.*187A>G (n.*187A>G) c.3441+16242T>C (n.3441+16242T>C) c.*619A>G (n.*619A>G) c.1794A>G (p.Ile598Met) c.276+16242T>C (n.276+16242T>C) c.*220+6302A>G (n.*220+6302A>G) c.918A>G (p.Ile306Met) c.945A>G (p.Ile315Met) c.1800A>G (p.Ile600Met) c.1614A>G (p.Ile538Met) c.1533A>G (p.Ile511Met) c.1239A>G (p.Ile413Met) c.1620A>G (p.Ile540Met) | |
2 | g.48687922T>G | CA426125415 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1875A>C (p.Ile625=) c.*187A>C (n.*187A>C) c.3441+16242T>G (n.3441+16242T>G) c.*619A>C (n.*619A>C) c.1794A>C (p.Ile598=) c.276+16242T>G (n.276+16242T>G) c.*220+6302A>C (n.*220+6302A>C) c.918A>C (p.Ile306=) c.945A>C (p.Ile315=) c.1800A>C (p.Ile600=) c.1614A>C (p.Ile538=) c.1533A>C (p.Ile511=) c.1239A>C (p.Ile413=) c.1620A>C (p.Ile540=) | |
2 | g.48687922T= | CA1248600903 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1875A= (p.Ile625=) c.*187A= (n.*187A=) c.3441+16242T= (n.3441+16242T=) c.*619A= (n.*619A=) c.1794A= (p.Ile598=) c.276+16242T= (n.276+16242T=) c.*220+6302A= (n.*220+6302A=) c.918A= (p.Ile306=) c.945A= (p.Ile315=) c.1800A= (p.Ile600=) c.1614A= (p.Ile538=) c.1533A= (p.Ile511=) c.1239A= (p.Ile413=) c.1620A= (p.Ile540=) | |
2 | g.48687923A= | CA1248600904 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1874T= (p.Ile625=) c.*186T= (n.*186T=) c.3441+16243A= (n.3441+16243A=) c.*618T= (n.*618T=) c.1793T= (p.Ile598=) c.276+16243A= (n.276+16243A=) c.*220+6301T= (n.*220+6301T=) c.917T= (p.Ile306=) c.944T= (p.Ile315=) c.1799T= (p.Ile600=) c.1613T= (p.Ile538=) c.1532T= (p.Ile511=) c.1238T= (p.Ile413=) c.1619T= (p.Ile540=) | |
2 | g.48687923A>C | CA346744039 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1874T>G (p.Ile625Arg) c.*186T>G (n.*186T>G) c.3441+16243A>C (n.3441+16243A>C) c.*618T>G (n.*618T>G) c.1793T>G (p.Ile598Arg) c.276+16243A>C (n.276+16243A>C) c.*220+6301T>G (n.*220+6301T>G) c.917T>G (p.Ile306Arg) c.944T>G (p.Ile315Arg) c.1799T>G (p.Ile600Arg) c.1613T>G (p.Ile538Arg) c.1532T>G (p.Ile511Arg) c.1238T>G (p.Ile413Arg) c.1619T>G (p.Ile540Arg) | |
2 | g.48687923A>G | CA346744041 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1874T>C (p.Ile625Thr) c.*186T>C (n.*186T>C) c.3441+16243A>G (n.3441+16243A>G) c.*618T>C (n.*618T>C) c.1793T>C (p.Ile598Thr) c.276+16243A>G (n.276+16243A>G) c.*220+6301T>C (n.*220+6301T>C) c.917T>C (p.Ile306Thr) c.944T>C (p.Ile315Thr) c.1799T>C (p.Ile600Thr) c.1613T>C (p.Ile538Thr) c.1532T>C (p.Ile511Thr) c.1238T>C (p.Ile413Thr) c.1619T>C (p.Ile540Thr) | |
2 | g.48687923A>T | CA123928 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1874T>A (p.Ile625Lys) c.*186T>A (n.*186T>A) c.3441+16243A>T (n.3441+16243A>T) c.*618T>A (n.*618T>A) c.1793T>A (p.Ile598Lys) c.276+16243A>T (n.276+16243A>T) c.*220+6301T>A (n.*220+6301T>A) c.917T>A (p.Ile306Lys) c.944T>A (p.Ile315Lys) c.1799T>A (p.Ile600Lys) c.1613T>A (p.Ile538Lys) c.1532T>A (p.Ile511Lys) c.1238T>A (p.Ile413Lys) c.1619T>A (p.Ile540Lys) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.48687924T>A | CA346744059 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1873A>T (p.Ile625Leu) c.*185A>T (n.*185A>T) c.3441+16244T>A (n.3441+16244T>A) c.*617A>T (n.*617A>T) c.1792A>T (p.Ile598Leu) c.276+16244T>A (n.276+16244T>A) c.*220+6300A>T (n.*220+6300A>T) c.916A>T (p.Ile306Leu) c.943A>T (p.Ile315Leu) c.1798A>T (p.Ile600Leu) c.1612A>T (p.Ile538Leu) c.1531A>T (p.Ile511Leu) c.1237A>T (p.Ile413Leu) c.1618A>T (p.Ile540Leu) | |
2 | g.48687924T>C | CA346744061 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1873A>G (p.Ile625Val) c.*185A>G (n.*185A>G) c.3441+16244T>C (n.3441+16244T>C) c.*617A>G (n.*617A>G) c.1792A>G (p.Ile598Val) c.276+16244T>C (n.276+16244T>C) c.*220+6300A>G (n.*220+6300A>G) c.916A>G (p.Ile306Val) c.943A>G (p.Ile315Val) c.1798A>G (p.Ile600Val) c.1612A>G (p.Ile538Val) c.1531A>G (p.Ile511Val) c.1237A>G (p.Ile413Val) c.1618A>G (p.Ile540Val) | gnomAD v4 |
2 | g.48687924T>G | CA346744063 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1873A>C (p.Ile625Leu) c.*185A>C (n.*185A>C) c.3441+16244T>G (n.3441+16244T>G) c.*617A>C (n.*617A>C) c.1792A>C (p.Ile598Leu) c.276+16244T>G (n.276+16244T>G) c.*220+6300A>C (n.*220+6300A>C) c.916A>C (p.Ile306Leu) c.943A>C (p.Ile315Leu) c.1798A>C (p.Ile600Leu) c.1612A>C (p.Ile538Leu) c.1531A>C (p.Ile511Leu) c.1237A>C (p.Ile413Leu) c.1618A>C (p.Ile540Leu) | |
2 | g.48687925T>A | CA426125423 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1872A>T (p.Ala624=) c.*184A>T (n.*184A>T) c.3441+16245T>A (n.3441+16245T>A) c.*616A>T (n.*616A>T) c.1791A>T (p.Ala597=) c.276+16245T>A (n.276+16245T>A) c.*220+6299A>T (n.*220+6299A>T) c.915A>T (p.Ala305=) c.942A>T (p.Ala314=) c.1797A>T (p.Ala599=) c.1611A>T (p.Ala537=) c.1530A>T (p.Ala510=) c.1236A>T (p.Ala412=) c.1617A>T (p.Ala539=) | |
2 | g.48687925T>C | CA426125424 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1872A>G (p.Ala624=) c.*184A>G (n.*184A>G) c.3441+16245T>C (n.3441+16245T>C) c.*616A>G (n.*616A>G) c.1791A>G (p.Ala597=) c.276+16245T>C (n.276+16245T>C) c.*220+6299A>G (n.*220+6299A>G) c.915A>G (p.Ala305=) c.942A>G (p.Ala314=) c.1797A>G (p.Ala599=) c.1611A>G (p.Ala537=) c.1530A>G (p.Ala510=) c.1236A>G (p.Ala412=) c.1617A>G (p.Ala539=) | |
2 | g.48687925T>G | CA426125425 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1872A>C (p.Ala624=) c.*184A>C (n.*184A>C) c.3441+16245T>G (n.3441+16245T>G) c.*616A>C (n.*616A>C) c.1791A>C (p.Ala597=) c.276+16245T>G (n.276+16245T>G) c.*220+6299A>C (n.*220+6299A>C) c.915A>C (p.Ala305=) c.942A>C (p.Ala314=) c.1797A>C (p.Ala599=) c.1611A>C (p.Ala537=) c.1530A>C (p.Ala510=) c.1236A>C (p.Ala412=) c.1617A>C (p.Ala539=) | |
2 | g.48687926G>A | CA346744066 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1871C>T (p.Ala624Val) c.*183C>T (n.*183C>T) c.3441+16246G>A (n.3441+16246G>A) c.*615C>T (n.*615C>T) c.1790C>T (p.Ala597Val) c.276+16246G>A (n.276+16246G>A) c.*220+6298C>T (n.*220+6298C>T) c.914C>T (p.Ala305Val) c.941C>T (p.Ala314Val) c.1796C>T (p.Ala599Val) c.1610C>T (p.Ala537Val) c.1529C>T (p.Ala510Val) c.1235C>T (p.Ala412Val) c.1616C>T (p.Ala539Val) | dbSNP |
2 | g.48687926G>C | CA346744067 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1871C>G (p.Ala624Gly) c.*183C>G (n.*183C>G) c.3441+16246G>C (n.3441+16246G>C) c.*615C>G (n.*615C>G) c.1790C>G (p.Ala597Gly) c.276+16246G>C (n.276+16246G>C) c.*220+6298C>G (n.*220+6298C>G) c.914C>G (p.Ala305Gly) c.941C>G (p.Ala314Gly) c.1796C>G (p.Ala599Gly) c.1610C>G (p.Ala537Gly) c.1529C>G (p.Ala510Gly) c.1235C>G (p.Ala412Gly) c.1616C>G (p.Ala539Gly) | |
2 | g.48687926G= | CA1248600905 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1871C= (p.Ala624=) c.*183C= (n.*183C=) c.3441+16246G= (n.3441+16246G=) c.*615C= (n.*615C=) c.1790C= (p.Ala597=) c.276+16246G= (n.276+16246G=) c.*220+6298C= (n.*220+6298C=) c.914C= (p.Ala305=) c.941C= (p.Ala314=) c.1796C= (p.Ala599=) c.1610C= (p.Ala537=) c.1529C= (p.Ala510=) c.1235C= (p.Ala412=) c.1616C= (p.Ala539=) | |
2 | g.48687926G>T | CA346744068 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1871C>A (p.Ala624Glu) c.*183C>A (n.*183C>A) c.3441+16246G>T (n.3441+16246G>T) c.*615C>A (n.*615C>A) c.1790C>A (p.Ala597Glu) c.276+16246G>T (n.276+16246G>T) c.*220+6298C>A (n.*220+6298C>A) c.914C>A (p.Ala305Glu) c.941C>A (p.Ala314Glu) c.1796C>A (p.Ala599Glu) c.1610C>A (p.Ala537Glu) c.1529C>A (p.Ala510Glu) c.1235C>A (p.Ala412Glu) c.1616C>A (p.Ala539Glu) | |
2 | g.48687926_48687927insTT | CA532706161 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1870_1871insAA (p.Ala624GlufsTer16) c.*182_*183insAA (n.*182_*183insAA) c.3441+16246_3441+16247insTT (n.3441+16246_3441+16247insTT) c.*614_*615insAA (n.*614_*615insAA) c.1789_1790insAA (p.Ala597GlufsTer16) c.276+16246_276+16247insTT (n.276+16246_276+16247insTT) c.*220+6297_*220+6298insAA (n.*220+6297_*220+6298insAA) c.913_914insAA (p.Ala305GlufsTer16) c.940_941insAA (p.Ala314GlufsTer16) c.1795_1796insAA (p.Ala599GlufsTer16) c.1609_1610insAA (p.Ala537GlufsTer16) c.1528_1529insAA (p.Ala510GlufsTer16) c.1234_1235insAA (p.Ala412GlufsTer16) c.1615_1616insAA (p.Ala539GlufsTer16) | dbSNP gnomAD v2 |
2 | g.48687927C>A | CA346744069 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1870G>T (p.Ala624Ser) c.*182G>T (n.*182G>T) c.3441+16247C>A (n.3441+16247C>A) c.*614G>T (n.*614G>T) c.1789G>T (p.Ala597Ser) c.276+16247C>A (n.276+16247C>A) c.*220+6297G>T (n.*220+6297G>T) c.913G>T (p.Ala305Ser) c.940G>T (p.Ala314Ser) c.1795G>T (p.Ala599Ser) c.1609G>T (p.Ala537Ser) c.1528G>T (p.Ala510Ser) c.1234G>T (p.Ala412Ser) c.1615G>T (p.Ala539Ser) | |
2 | g.48687927C>G | CA346744072 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1870G>C (p.Ala624Pro) c.*182G>C (n.*182G>C) c.3441+16247C>G (n.3441+16247C>G) c.*614G>C (n.*614G>C) c.1789G>C (p.Ala597Pro) c.276+16247C>G (n.276+16247C>G) c.*220+6297G>C (n.*220+6297G>C) c.913G>C (p.Ala305Pro) c.940G>C (p.Ala314Pro) c.1795G>C (p.Ala599Pro) c.1609G>C (p.Ala537Pro) c.1528G>C (p.Ala510Pro) c.1234G>C (p.Ala412Pro) c.1615G>C (p.Ala539Pro) | |
2 | g.48687927C>T | CA346744076 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1870G>A (p.Ala624Thr) c.*182G>A (n.*182G>A) c.3441+16247C>T (n.3441+16247C>T) c.*614G>A (n.*614G>A) c.1789G>A (p.Ala597Thr) c.276+16247C>T (n.276+16247C>T) c.*220+6297G>A (n.*220+6297G>A) c.913G>A (p.Ala305Thr) c.940G>A (p.Ala314Thr) c.1795G>A (p.Ala599Thr) c.1609G>A (p.Ala537Thr) c.1528G>A (p.Ala510Thr) c.1234G>A (p.Ala412Thr) c.1615G>A (p.Ala539Thr) | |
2 | g.48687928A= | CA1248600906 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1869T= (p.Tyr623=) c.*181T= (n.*181T=) c.3441+16248A= (n.3441+16248A=) c.*613T= (n.*613T=) c.1788T= (p.Tyr596=) c.276+16248A= (n.276+16248A=) c.*220+6296T= (n.*220+6296T=) c.912T= (p.Tyr304=) c.939T= (p.Tyr313=) c.1794T= (p.Tyr598=) c.1608T= (p.Tyr536=) c.1527T= (p.Tyr509=) c.1233T= (p.Tyr411=) c.1614T= (p.Tyr538=) | |
2 | g.48687928A>C | CA346744078 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1869T>G (p.Tyr623Ter) c.*181T>G (n.*181T>G) c.3441+16248A>C (n.3441+16248A>C) c.*613T>G (n.*613T>G) c.1788T>G (p.Tyr596Ter) c.276+16248A>C (n.276+16248A>C) c.*220+6296T>G (n.*220+6296T>G) c.912T>G (p.Tyr304Ter) c.939T>G (p.Tyr313Ter) c.1794T>G (p.Tyr598Ter) c.1608T>G (p.Tyr536Ter) c.1527T>G (p.Tyr509Ter) c.1233T>G (p.Tyr411Ter) c.1614T>G (p.Tyr538Ter) | ClinVar dbSNP |
2 | g.48687928A>G | CA1652974 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1869T>C (p.Tyr623=) c.*181T>C (n.*181T>C) c.3441+16248A>G (n.3441+16248A>G) c.*613T>C (n.*613T>C) c.1788T>C (p.Tyr596=) c.276+16248A>G (n.276+16248A>G) c.*220+6296T>C (n.*220+6296T>C) c.912T>C (p.Tyr304=) c.939T>C (p.Tyr313=) c.1794T>C (p.Tyr598=) c.1608T>C (p.Tyr536=) c.1527T>C (p.Tyr509=) c.1233T>C (p.Tyr411=) c.1614T>C (p.Tyr538=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687928A>T | CA346744082 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1869T>A (p.Tyr623Ter) c.*181T>A (n.*181T>A) c.3441+16248A>T (n.3441+16248A>T) c.*613T>A (n.*613T>A) c.1788T>A (p.Tyr596Ter) c.276+16248A>T (n.276+16248A>T) c.*220+6296T>A (n.*220+6296T>A) c.912T>A (p.Tyr304Ter) c.939T>A (p.Tyr313Ter) c.1794T>A (p.Tyr598Ter) c.1608T>A (p.Tyr536Ter) c.1527T>A (p.Tyr509Ter) c.1233T>A (p.Tyr411Ter) c.1614T>A (p.Tyr538Ter) | dbSNP gnomAD v2 |
2 | g.48687929T>A | CA346744084 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1868A>T (p.Tyr623Phe) c.*180A>T (n.*180A>T) c.3441+16249T>A (n.3441+16249T>A) c.*612A>T (n.*612A>T) c.1787A>T (p.Tyr596Phe) c.276+16249T>A (n.276+16249T>A) c.*220+6295A>T (n.*220+6295A>T) c.911A>T (p.Tyr304Phe) c.938A>T (p.Tyr313Phe) c.1793A>T (p.Tyr598Phe) c.1607A>T (p.Tyr536Phe) c.1526A>T (p.Tyr509Phe) c.1232A>T (p.Tyr411Phe) c.1613A>T (p.Tyr538Phe) | |
2 | g.48687929T>C | CA346744086 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1868A>G (p.Tyr623Cys) c.*180A>G (n.*180A>G) c.3441+16249T>C (n.3441+16249T>C) c.*612A>G (n.*612A>G) c.1787A>G (p.Tyr596Cys) c.276+16249T>C (n.276+16249T>C) c.*220+6295A>G (n.*220+6295A>G) c.911A>G (p.Tyr304Cys) c.938A>G (p.Tyr313Cys) c.1793A>G (p.Tyr598Cys) c.1607A>G (p.Tyr536Cys) c.1526A>G (p.Tyr509Cys) c.1232A>G (p.Tyr411Cys) c.1613A>G (p.Tyr538Cys) | |
2 | g.48687929T>G | CA346744085 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1868A>C (p.Tyr623Ser) c.*180A>C (n.*180A>C) c.3441+16249T>G (n.3441+16249T>G) c.*612A>C (n.*612A>C) c.1787A>C (p.Tyr596Ser) c.276+16249T>G (n.276+16249T>G) c.*220+6295A>C (n.*220+6295A>C) c.911A>C (p.Tyr304Ser) c.938A>C (p.Tyr313Ser) c.1793A>C (p.Tyr598Ser) c.1607A>C (p.Tyr536Ser) c.1526A>C (p.Tyr509Ser) c.1232A>C (p.Tyr411Ser) c.1613A>C (p.Tyr538Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687929T= | CA1248600907 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1868A= (p.Tyr623=) c.*180A= (n.*180A=) c.3441+16249T= (n.3441+16249T=) c.*612A= (n.*612A=) c.1787A= (p.Tyr596=) c.276+16249T= (n.276+16249T=) c.*220+6295A= (n.*220+6295A=) c.911A= (p.Tyr304=) c.938A= (p.Tyr313=) c.1793A= (p.Tyr598=) c.1607A= (p.Tyr536=) c.1526A= (p.Tyr509=) c.1232A= (p.Tyr411=) c.1613A= (p.Tyr538=) | |
2 | g.48687930A>C | CA346744087 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1867T>G (p.Tyr623Asp) c.*179T>G (n.*179T>G) c.3441+16250A>C (n.3441+16250A>C) c.*611T>G (n.*611T>G) c.1786T>G (p.Tyr596Asp) c.276+16250A>C (n.276+16250A>C) c.*220+6294T>G (n.*220+6294T>G) c.910T>G (p.Tyr304Asp) c.937T>G (p.Tyr313Asp) c.1792T>G (p.Tyr598Asp) c.1606T>G (p.Tyr536Asp) c.1525T>G (p.Tyr509Asp) c.1231T>G (p.Tyr411Asp) c.1612T>G (p.Tyr538Asp) | |
2 | g.48687930A>G | CA346744088 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1867T>C (p.Tyr623His) c.*179T>C (n.*179T>C) c.3441+16250A>G (n.3441+16250A>G) c.*611T>C (n.*611T>C) c.1786T>C (p.Tyr596His) c.276+16250A>G (n.276+16250A>G) c.*220+6294T>C (n.*220+6294T>C) c.910T>C (p.Tyr304His) c.937T>C (p.Tyr313His) c.1792T>C (p.Tyr598His) c.1606T>C (p.Tyr536His) c.1525T>C (p.Tyr509His) c.1231T>C (p.Tyr411His) c.1612T>C (p.Tyr538His) | |
2 | g.48687930A>T | CA346744089 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1867T>A (p.Tyr623Asn) c.*179T>A (n.*179T>A) c.3441+16250A>T (n.3441+16250A>T) c.*611T>A (n.*611T>A) c.1786T>A (p.Tyr596Asn) c.276+16250A>T (n.276+16250A>T) c.*220+6294T>A (n.*220+6294T>A) c.910T>A (p.Tyr304Asn) c.937T>A (p.Tyr313Asn) c.1792T>A (p.Tyr598Asn) c.1606T>A (p.Tyr536Asn) c.1525T>A (p.Tyr509Asn) c.1231T>A (p.Tyr411Asn) c.1612T>A (p.Tyr538Asn) | |
2 | g.48687931C>A | CA426125446 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1866G>T (p.Leu622=) c.*178G>T (n.*178G>T) c.3441+16251C>A (n.3441+16251C>A) c.*610G>T (n.*610G>T) c.1785G>T (p.Leu595=) c.276+16251C>A (n.276+16251C>A) c.*220+6293G>T (n.*220+6293G>T) c.909G>T (p.Leu303=) c.936G>T (p.Leu312=) c.1791G>T (p.Leu597=) c.1605G>T (p.Leu535=) c.1524G>T (p.Leu508=) c.1230G>T (p.Leu410=) c.1611G>T (p.Leu537=) | |
2 | g.48687931C= | CA1248600908 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1866G= (p.Leu622=) c.*178G= (n.*178G=) c.3441+16251C= (n.3441+16251C=) c.*610G= (n.*610G=) c.1785G= (p.Leu595=) c.276+16251C= (n.276+16251C=) c.*220+6293G= (n.*220+6293G=) c.909G= (p.Leu303=) c.936G= (p.Leu312=) c.1791G= (p.Leu597=) c.1605G= (p.Leu535=) c.1524G= (p.Leu508=) c.1230G= (p.Leu410=) c.1611G= (p.Leu537=) | |
2 | g.48687931C>G | CA426125445 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1866G>C (p.Leu622=) c.*178G>C (n.*178G>C) c.3441+16251C>G (n.3441+16251C>G) c.*610G>C (n.*610G>C) c.1785G>C (p.Leu595=) c.276+16251C>G (n.276+16251C>G) c.*220+6293G>C (n.*220+6293G>C) c.909G>C (p.Leu303=) c.936G>C (p.Leu312=) c.1791G>C (p.Leu597=) c.1605G>C (p.Leu535=) c.1524G>C (p.Leu508=) c.1230G>C (p.Leu410=) c.1611G>C (p.Leu537=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687931C>T | CA426125443 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1866G>A (p.Leu622=) c.*178G>A (n.*178G>A) c.3441+16251C>T (n.3441+16251C>T) c.*610G>A (n.*610G>A) c.1785G>A (p.Leu595=) c.276+16251C>T (n.276+16251C>T) c.*220+6293G>A (n.*220+6293G>A) c.909G>A (p.Leu303=) c.936G>A (p.Leu312=) c.1791G>A (p.Leu597=) c.1605G>A (p.Leu535=) c.1524G>A (p.Leu508=) c.1230G>A (p.Leu410=) c.1611G>A (p.Leu537=) | |
2 | g.48687932A>C | CA346744091 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1865T>G (p.Leu622Arg) c.*177T>G (n.*177T>G) c.3441+16252A>C (n.3441+16252A>C) c.*609T>G (n.*609T>G) c.1784T>G (p.Leu595Arg) c.276+16252A>C (n.276+16252A>C) c.*220+6292T>G (n.*220+6292T>G) c.908T>G (p.Leu303Arg) c.935T>G (p.Leu312Arg) c.1790T>G (p.Leu597Arg) c.1604T>G (p.Leu535Arg) c.1523T>G (p.Leu508Arg) c.1229T>G (p.Leu410Arg) c.1610T>G (p.Leu537Arg) | |
2 | g.48687932A>G | CA346744092 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1865T>C (p.Leu622Pro) c.*177T>C (n.*177T>C) c.3441+16252A>G (n.3441+16252A>G) c.*609T>C (n.*609T>C) c.1784T>C (p.Leu595Pro) c.276+16252A>G (n.276+16252A>G) c.*220+6292T>C (n.*220+6292T>C) c.908T>C (p.Leu303Pro) c.935T>C (p.Leu312Pro) c.1790T>C (p.Leu597Pro) c.1604T>C (p.Leu535Pro) c.1523T>C (p.Leu508Pro) c.1229T>C (p.Leu410Pro) c.1610T>C (p.Leu537Pro) | |
2 | g.48687932A>T | CA346744093 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1865T>A (p.Leu622Gln) c.*177T>A (n.*177T>A) c.3441+16252A>T (n.3441+16252A>T) c.*609T>A (n.*609T>A) c.1784T>A (p.Leu595Gln) c.276+16252A>T (n.276+16252A>T) c.*220+6292T>A (n.*220+6292T>A) c.908T>A (p.Leu303Gln) c.935T>A (p.Leu312Gln) c.1790T>A (p.Leu597Gln) c.1604T>A (p.Leu535Gln) c.1523T>A (p.Leu508Gln) c.1229T>A (p.Leu410Gln) c.1610T>A (p.Leu537Gln) | |
2 | g.48687933G>A | CA426125455 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1864C>T (p.Leu622=) c.*176C>T (n.*176C>T) c.3441+16253G>A (n.3441+16253G>A) c.*608C>T (n.*608C>T) c.1783C>T (p.Leu595=) c.276+16253G>A (n.276+16253G>A) c.*220+6291C>T (n.*220+6291C>T) c.907C>T (p.Leu303=) c.934C>T (p.Leu312=) c.1789C>T (p.Leu597=) c.1603C>T (p.Leu535=) c.1522C>T (p.Leu508=) c.1228C>T (p.Leu410=) c.1609C>T (p.Leu537=) | |
2 | g.48687933G>C | CA346744094 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1864C>G (p.Leu622Val) c.*176C>G (n.*176C>G) c.3441+16253G>C (n.3441+16253G>C) c.*608C>G (n.*608C>G) c.1783C>G (p.Leu595Val) c.276+16253G>C (n.276+16253G>C) c.*220+6291C>G (n.*220+6291C>G) c.907C>G (p.Leu303Val) c.934C>G (p.Leu312Val) c.1789C>G (p.Leu597Val) c.1603C>G (p.Leu535Val) c.1522C>G (p.Leu508Val) c.1228C>G (p.Leu410Val) c.1609C>G (p.Leu537Val) | |
2 | g.48687933G= | CA1248600909 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1864C= (p.Leu622=) c.*176C= (n.*176C=) c.3441+16253G= (n.3441+16253G=) c.*608C= (n.*608C=) c.1783C= (p.Leu595=) c.276+16253G= (n.276+16253G=) c.*220+6291C= (n.*220+6291C=) c.907C= (p.Leu303=) c.934C= (p.Leu312=) c.1789C= (p.Leu597=) c.1603C= (p.Leu535=) c.1522C= (p.Leu508=) c.1228C= (p.Leu410=) c.1609C= (p.Leu537=) | |
2 | g.48687933G>T | CA346744096 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1864C>A (p.Leu622Met) c.*176C>A (n.*176C>A) c.3441+16253G>T (n.3441+16253G>T) c.*608C>A (n.*608C>A) c.1783C>A (p.Leu595Met) c.276+16253G>T (n.276+16253G>T) c.*220+6291C>A (n.*220+6291C>A) c.907C>A (p.Leu303Met) c.934C>A (p.Leu312Met) c.1789C>A (p.Leu597Met) c.1603C>A (p.Leu535Met) c.1522C>A (p.Leu508Met) c.1228C>A (p.Leu410Met) c.1609C>A (p.Leu537Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.48687934A>C | CA346744104 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1863T>G (p.Phe621Leu) c.*175T>G (n.*175T>G) c.3441+16254A>C (n.3441+16254A>C) c.*607T>G (n.*607T>G) c.1782T>G (p.Phe594Leu) c.276+16254A>C (n.276+16254A>C) c.*220+6290T>G (n.*220+6290T>G) c.906T>G (p.Phe302Leu) c.933T>G (p.Phe311Leu) c.1788T>G (p.Phe596Leu) c.1602T>G (p.Phe534Leu) c.1521T>G (p.Phe507Leu) c.1227T>G (p.Phe409Leu) c.1608T>G (p.Phe536Leu) | |
2 | g.48687934A>G | CA426125462 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1863T>C (p.Phe621=) c.*175T>C (n.*175T>C) c.3441+16254A>G (n.3441+16254A>G) c.*607T>C (n.*607T>C) c.1782T>C (p.Phe594=) c.276+16254A>G (n.276+16254A>G) c.*220+6290T>C (n.*220+6290T>C) c.906T>C (p.Phe302=) c.933T>C (p.Phe311=) c.1788T>C (p.Phe596=) c.1602T>C (p.Phe534=) c.1521T>C (p.Phe507=) c.1227T>C (p.Phe409=) c.1608T>C (p.Phe536=) | |
2 | g.48687934A>T | CA346744108 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1863T>A (p.Phe621Leu) c.*175T>A (n.*175T>A) c.3441+16254A>T (n.3441+16254A>T) c.*607T>A (n.*607T>A) c.1782T>A (p.Phe594Leu) c.276+16254A>T (n.276+16254A>T) c.*220+6290T>A (n.*220+6290T>A) c.906T>A (p.Phe302Leu) c.933T>A (p.Phe311Leu) c.1788T>A (p.Phe596Leu) c.1602T>A (p.Phe534Leu) c.1521T>A (p.Phe507Leu) c.1227T>A (p.Phe409Leu) c.1608T>A (p.Phe536Leu) | |
2 | g.48687935A= | CA1248600910 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1862T= (p.Phe621=) c.*174T= (n.*174T=) c.3441+16255A= (n.3441+16255A=) c.*606T= (n.*606T=) c.1781T= (p.Phe594=) c.276+16255A= (n.276+16255A=) c.*220+6289T= (n.*220+6289T=) c.905T= (p.Phe302=) c.932T= (p.Phe311=) c.1787T= (p.Phe596=) c.1601T= (p.Phe534=) c.1520T= (p.Phe507=) c.1226T= (p.Phe409=) c.1607T= (p.Phe536=) | |
2 | g.48687935A>C | CA346744110 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1862T>G (p.Phe621Cys) c.*174T>G (n.*174T>G) c.3441+16255A>C (n.3441+16255A>C) c.*606T>G (n.*606T>G) c.1781T>G (p.Phe594Cys) c.276+16255A>C (n.276+16255A>C) c.*220+6289T>G (n.*220+6289T>G) c.905T>G (p.Phe302Cys) c.932T>G (p.Phe311Cys) c.1787T>G (p.Phe596Cys) c.1601T>G (p.Phe534Cys) c.1520T>G (p.Phe507Cys) c.1226T>G (p.Phe409Cys) c.1607T>G (p.Phe536Cys) | |
2 | g.48687935A>G | CA46752647 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1862T>C (p.Phe621Ser) c.*174T>C (n.*174T>C) c.3441+16255A>G (n.3441+16255A>G) c.*606T>C (n.*606T>C) c.1781T>C (p.Phe594Ser) c.276+16255A>G (n.276+16255A>G) c.*220+6289T>C (n.*220+6289T>C) c.905T>C (p.Phe302Ser) c.932T>C (p.Phe311Ser) c.1787T>C (p.Phe596Ser) c.1601T>C (p.Phe534Ser) c.1520T>C (p.Phe507Ser) c.1226T>C (p.Phe409Ser) c.1607T>C (p.Phe536Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687935A>T | CA346744119 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1862T>A (p.Phe621Tyr) c.*174T>A (n.*174T>A) c.3441+16255A>T (n.3441+16255A>T) c.*606T>A (n.*606T>A) c.1781T>A (p.Phe594Tyr) c.276+16255A>T (n.276+16255A>T) c.*220+6289T>A (n.*220+6289T>A) c.905T>A (p.Phe302Tyr) c.932T>A (p.Phe311Tyr) c.1787T>A (p.Phe596Tyr) c.1601T>A (p.Phe534Tyr) c.1520T>A (p.Phe507Tyr) c.1226T>A (p.Phe409Tyr) c.1607T>A (p.Phe536Tyr) | |
2 | g.48687936A>C | CA346744139 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1861T>G (p.Phe621Val) c.*173T>G (n.*173T>G) c.3441+16256A>C (n.3441+16256A>C) c.*605T>G (n.*605T>G) c.1780T>G (p.Phe594Val) c.276+16256A>C (n.276+16256A>C) c.*220+6288T>G (n.*220+6288T>G) c.904T>G (p.Phe302Val) c.931T>G (p.Phe311Val) c.1786T>G (p.Phe596Val) c.1600T>G (p.Phe534Val) c.1519T>G (p.Phe507Val) c.1225T>G (p.Phe409Val) c.1606T>G (p.Phe536Val) | |
2 | g.48687936A>G | CA346744128 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1861T>C (p.Phe621Leu) c.*173T>C (n.*173T>C) c.3441+16256A>G (n.3441+16256A>G) c.*605T>C (n.*605T>C) c.1780T>C (p.Phe594Leu) c.276+16256A>G (n.276+16256A>G) c.*220+6288T>C (n.*220+6288T>C) c.904T>C (p.Phe302Leu) c.931T>C (p.Phe311Leu) c.1786T>C (p.Phe596Leu) c.1600T>C (p.Phe534Leu) c.1519T>C (p.Phe507Leu) c.1225T>C (p.Phe409Leu) c.1606T>C (p.Phe536Leu) | |
2 | g.48687936A>T | CA346744136 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1861T>A (p.Phe621Ile) c.*173T>A (n.*173T>A) c.3441+16256A>T (n.3441+16256A>T) c.*605T>A (n.*605T>A) c.1780T>A (p.Phe594Ile) c.276+16256A>T (n.276+16256A>T) c.*220+6288T>A (n.*220+6288T>A) c.904T>A (p.Phe302Ile) c.931T>A (p.Phe311Ile) c.1786T>A (p.Phe596Ile) c.1600T>A (p.Phe534Ile) c.1519T>A (p.Phe507Ile) c.1225T>A (p.Phe409Ile) c.1606T>A (p.Phe536Ile) | |
2 | g.48687937T>A | CA426125471 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1860A>T (p.Pro620=) c.*172A>T (n.*172A>T) c.3441+16257T>A (n.3441+16257T>A) c.*604A>T (n.*604A>T) c.1779A>T (p.Pro593=) c.276+16257T>A (n.276+16257T>A) c.*220+6287A>T (n.*220+6287A>T) c.903A>T (p.Pro301=) c.930A>T (p.Pro310=) c.1785A>T (p.Pro595=) c.1599A>T (p.Pro533=) c.1518A>T (p.Pro506=) c.1224A>T (p.Pro408=) c.1605A>T (p.Pro535=) | gnomAD v4 |
2 | g.48687937T>C | CA426125474 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1860A>G (p.Pro620=) c.*172A>G (n.*172A>G) c.3441+16257T>C (n.3441+16257T>C) c.*604A>G (n.*604A>G) c.1779A>G (p.Pro593=) c.276+16257T>C (n.276+16257T>C) c.*220+6287A>G (n.*220+6287A>G) c.903A>G (p.Pro301=) c.930A>G (p.Pro310=) c.1785A>G (p.Pro595=) c.1599A>G (p.Pro533=) c.1518A>G (p.Pro506=) c.1224A>G (p.Pro408=) c.1605A>G (p.Pro535=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687937T>G | CA426125475 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1860A>C (p.Pro620=) c.*172A>C (n.*172A>C) c.3441+16257T>G (n.3441+16257T>G) c.*604A>C (n.*604A>C) c.1779A>C (p.Pro593=) c.276+16257T>G (n.276+16257T>G) c.*220+6287A>C (n.*220+6287A>C) c.903A>C (p.Pro301=) c.930A>C (p.Pro310=) c.1785A>C (p.Pro595=) c.1599A>C (p.Pro533=) c.1518A>C (p.Pro506=) c.1224A>C (p.Pro408=) c.1605A>C (p.Pro535=) | |
2 | g.48687937T= | CA1248600911 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1860A= (p.Pro620=) c.*172A= (n.*172A=) c.3441+16257T= (n.3441+16257T=) c.*604A= (n.*604A=) c.1779A= (p.Pro593=) c.276+16257T= (n.276+16257T=) c.*220+6287A= (n.*220+6287A=) c.903A= (p.Pro301=) c.930A= (p.Pro310=) c.1785A= (p.Pro595=) c.1599A= (p.Pro533=) c.1518A= (p.Pro506=) c.1224A= (p.Pro408=) c.1605A= (p.Pro535=) | |
2 | g.48687938G>A | CA346744144 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1859C>T (p.Pro620Leu) c.*171C>T (n.*171C>T) c.3441+16258G>A (n.3441+16258G>A) c.*603C>T (n.*603C>T) c.1778C>T (p.Pro593Leu) c.276+16258G>A (n.276+16258G>A) c.*220+6286C>T (n.*220+6286C>T) c.902C>T (p.Pro301Leu) c.929C>T (p.Pro310Leu) c.1784C>T (p.Pro595Leu) c.1598C>T (p.Pro533Leu) c.1517C>T (p.Pro506Leu) c.1223C>T (p.Pro408Leu) c.1604C>T (p.Pro535Leu) | gnomAD v4 |
2 | g.48687938G>C | CA346744145 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1859C>G (p.Pro620Arg) c.*171C>G (n.*171C>G) c.3441+16258G>C (n.3441+16258G>C) c.*603C>G (n.*603C>G) c.1778C>G (p.Pro593Arg) c.276+16258G>C (n.276+16258G>C) c.*220+6286C>G (n.*220+6286C>G) c.902C>G (p.Pro301Arg) c.929C>G (p.Pro310Arg) c.1784C>G (p.Pro595Arg) c.1598C>G (p.Pro533Arg) c.1517C>G (p.Pro506Arg) c.1223C>G (p.Pro408Arg) c.1604C>G (p.Pro535Arg) | |
2 | g.48687938G>T | CA346744146 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1859C>A (p.Pro620Gln) c.*171C>A (n.*171C>A) c.3441+16258G>T (n.3441+16258G>T) c.*603C>A (n.*603C>A) c.1778C>A (p.Pro593Gln) c.276+16258G>T (n.276+16258G>T) c.*220+6286C>A (n.*220+6286C>A) c.902C>A (p.Pro301Gln) c.929C>A (p.Pro310Gln) c.1784C>A (p.Pro595Gln) c.1598C>A (p.Pro533Gln) c.1517C>A (p.Pro506Gln) c.1223C>A (p.Pro408Gln) c.1604C>A (p.Pro535Gln) | |
2 | g.48687939G>A | CA346744147 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1858C>T (p.Pro620Ser) c.*170C>T (n.*170C>T) c.3441+16259G>A (n.3441+16259G>A) c.*602C>T (n.*602C>T) c.1777C>T (p.Pro593Ser) c.276+16259G>A (n.276+16259G>A) c.*220+6285C>T (n.*220+6285C>T) c.901C>T (p.Pro301Ser) c.928C>T (p.Pro310Ser) c.1783C>T (p.Pro595Ser) c.1597C>T (p.Pro533Ser) c.1516C>T (p.Pro506Ser) c.1222C>T (p.Pro408Ser) c.1603C>T (p.Pro535Ser) | COSMIC |
2 | g.48687939G>C | CA1652975 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1858C>G (p.Pro620Ala) c.*170C>G (n.*170C>G) c.3441+16259G>C (n.3441+16259G>C) c.*602C>G (n.*602C>G) c.1777C>G (p.Pro593Ala) c.276+16259G>C (n.276+16259G>C) c.*220+6285C>G (n.*220+6285C>G) c.901C>G (p.Pro301Ala) c.928C>G (p.Pro310Ala) c.1783C>G (p.Pro595Ala) c.1597C>G (p.Pro533Ala) c.1516C>G (p.Pro506Ala) c.1222C>G (p.Pro408Ala) c.1603C>G (p.Pro535Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687939G= | CA1248600912 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1858C= (p.Pro620=) c.*170C= (n.*170C=) c.3441+16259G= (n.3441+16259G=) c.*602C= (n.*602C=) c.1777C= (p.Pro593=) c.276+16259G= (n.276+16259G=) c.*220+6285C= (n.*220+6285C=) c.901C= (p.Pro301=) c.928C= (p.Pro310=) c.1783C= (p.Pro595=) c.1597C= (p.Pro533=) c.1516C= (p.Pro506=) c.1222C= (p.Pro408=) c.1603C= (p.Pro535=) | |
2 | g.48687939G>T | CA346744155 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1858C>A (p.Pro620Thr) c.*170C>A (n.*170C>A) c.3441+16259G>T (n.3441+16259G>T) c.*602C>A (n.*602C>A) c.1777C>A (p.Pro593Thr) c.276+16259G>T (n.276+16259G>T) c.*220+6285C>A (n.*220+6285C>A) c.901C>A (p.Pro301Thr) c.928C>A (p.Pro310Thr) c.1783C>A (p.Pro595Thr) c.1597C>A (p.Pro533Thr) c.1516C>A (p.Pro506Thr) c.1222C>A (p.Pro408Thr) c.1603C>A (p.Pro535Thr) | |
2 | g.48687940A>C | CA346744158 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1857T>G (p.Asn619Lys) c.*169T>G (n.*169T>G) c.3441+16260A>C (n.3441+16260A>C) c.*601T>G (n.*601T>G) c.1776T>G (p.Asn592Lys) c.276+16260A>C (n.276+16260A>C) c.*220+6284T>G (n.*220+6284T>G) c.900T>G (p.Asn300Lys) c.927T>G (p.Asn309Lys) c.1782T>G (p.Asn594Lys) c.1596T>G (p.Asn532Lys) c.1515T>G (p.Asn505Lys) c.1221T>G (p.Asn407Lys) c.1602T>G (p.Asn534Lys) | |
2 | g.48687940A>G | CA426125488 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1857T>C (p.Asn619=) c.*169T>C (n.*169T>C) c.3441+16260A>G (n.3441+16260A>G) c.*601T>C (n.*601T>C) c.1776T>C (p.Asn592=) c.276+16260A>G (n.276+16260A>G) c.*220+6284T>C (n.*220+6284T>C) c.900T>C (p.Asn300=) c.927T>C (p.Asn309=) c.1782T>C (p.Asn594=) c.1596T>C (p.Asn532=) c.1515T>C (p.Asn505=) c.1221T>C (p.Asn407=) c.1602T>C (p.Asn534=) | dbSNP gnomAD v4 |
2 | g.48687940A>T | CA346744162 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1857T>A (p.Asn619Lys) c.*169T>A (n.*169T>A) c.3441+16260A>T (n.3441+16260A>T) c.*601T>A (n.*601T>A) c.1776T>A (p.Asn592Lys) c.276+16260A>T (n.276+16260A>T) c.*220+6284T>A (n.*220+6284T>A) c.900T>A (p.Asn300Lys) c.927T>A (p.Asn309Lys) c.1782T>A (p.Asn594Lys) c.1596T>A (p.Asn532Lys) c.1515T>A (p.Asn505Lys) c.1221T>A (p.Asn407Lys) c.1602T>A (p.Asn534Lys) | gnomAD v4 |
2 | g.48687941T>A | CA346744163 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1856A>T (p.Asn619Ile) c.*168A>T (n.*168A>T) c.3441+16261T>A (n.3441+16261T>A) c.*600A>T (n.*600A>T) c.1775A>T (p.Asn592Ile) c.276+16261T>A (n.276+16261T>A) c.*220+6283A>T (n.*220+6283A>T) c.899A>T (p.Asn300Ile) c.926A>T (p.Asn309Ile) c.1781A>T (p.Asn594Ile) c.1595A>T (p.Asn532Ile) c.1514A>T (p.Asn505Ile) c.1220A>T (p.Asn407Ile) c.1601A>T (p.Asn534Ile) | |
2 | g.48687941T>C | CA346744164 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1856A>G (p.Asn619Ser) c.*168A>G (n.*168A>G) c.3441+16261T>C (n.3441+16261T>C) c.*600A>G (n.*600A>G) c.1775A>G (p.Asn592Ser) c.276+16261T>C (n.276+16261T>C) c.*220+6283A>G (n.*220+6283A>G) c.899A>G (p.Asn300Ser) c.926A>G (p.Asn309Ser) c.1781A>G (p.Asn594Ser) c.1595A>G (p.Asn532Ser) c.1514A>G (p.Asn505Ser) c.1220A>G (p.Asn407Ser) c.1601A>G (p.Asn534Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687941T>G | CA346744167 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1856A>C (p.Asn619Thr) c.*168A>C (n.*168A>C) c.3441+16261T>G (n.3441+16261T>G) c.*600A>C (n.*600A>C) c.1775A>C (p.Asn592Thr) c.276+16261T>G (n.276+16261T>G) c.*220+6283A>C (n.*220+6283A>C) c.899A>C (p.Asn300Thr) c.926A>C (p.Asn309Thr) c.1781A>C (p.Asn594Thr) c.1595A>C (p.Asn532Thr) c.1514A>C (p.Asn505Thr) c.1220A>C (p.Asn407Thr) c.1601A>C (p.Asn534Thr) | |
2 | g.48687941T= | CA1248600913 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1856A= (p.Asn619=) c.*168A= (n.*168A=) c.3441+16261T= (n.3441+16261T=) c.*600A= (n.*600A=) c.1775A= (p.Asn592=) c.276+16261T= (n.276+16261T=) c.*220+6283A= (n.*220+6283A=) c.899A= (p.Asn300=) c.926A= (p.Asn309=) c.1781A= (p.Asn594=) c.1595A= (p.Asn532=) c.1514A= (p.Asn505=) c.1220A= (p.Asn407=) c.1601A= (p.Asn534=) | |
2 | g.48687942T>A | CA346744169 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1855A>T (p.Asn619Tyr) c.*167A>T (n.*167A>T) c.3441+16262T>A (n.3441+16262T>A) c.*599A>T (n.*599A>T) c.1774A>T (p.Asn592Tyr) c.276+16262T>A (n.276+16262T>A) c.*220+6282A>T (n.*220+6282A>T) c.898A>T (p.Asn300Tyr) c.925A>T (p.Asn309Tyr) c.1780A>T (p.Asn594Tyr) c.1594A>T (p.Asn532Tyr) c.1513A>T (p.Asn505Tyr) c.1219A>T (p.Asn407Tyr) c.1600A>T (p.Asn534Tyr) | |
2 | g.48687942T>C | CA346744171 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1855A>G (p.Asn619Asp) c.*167A>G (n.*167A>G) c.3441+16262T>C (n.3441+16262T>C) c.*599A>G (n.*599A>G) c.1774A>G (p.Asn592Asp) c.276+16262T>C (n.276+16262T>C) c.*220+6282A>G (n.*220+6282A>G) c.898A>G (p.Asn300Asp) c.925A>G (p.Asn309Asp) c.1780A>G (p.Asn594Asp) c.1594A>G (p.Asn532Asp) c.1513A>G (p.Asn505Asp) c.1219A>G (p.Asn407Asp) c.1600A>G (p.Asn534Asp) | |
2 | g.48687942T>G | CA346744170 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1855A>C (p.Asn619His) c.*167A>C (n.*167A>C) c.3441+16262T>G (n.3441+16262T>G) c.*599A>C (n.*599A>C) c.1774A>C (p.Asn592His) c.276+16262T>G (n.276+16262T>G) c.*220+6282A>C (n.*220+6282A>C) c.898A>C (p.Asn300His) c.925A>C (p.Asn309His) c.1780A>C (p.Asn594His) c.1594A>C (p.Asn532His) c.1513A>C (p.Asn505His) c.1219A>C (p.Asn407His) c.1600A>C (p.Asn534His) | |
2 | g.48687943G>A | CA426125498 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1854C>T (p.Ala618=) c.*166C>T (n.*166C>T) c.3441+16263G>A (n.3441+16263G>A) c.*598C>T (n.*598C>T) c.1773C>T (p.Ala591=) c.276+16263G>A (n.276+16263G>A) c.*220+6281C>T (n.*220+6281C>T) c.897C>T (p.Ala299=) c.924C>T (p.Ala308=) c.1779C>T (p.Ala593=) c.1593C>T (p.Ala531=) c.1512C>T (p.Ala504=) c.1218C>T (p.Ala406=) c.1599C>T (p.Ala533=) | |
2 | g.48687943G>C | CA426125500 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1854C>G (p.Ala618=) c.*166C>G (n.*166C>G) c.3441+16263G>C (n.3441+16263G>C) c.*598C>G (n.*598C>G) c.1773C>G (p.Ala591=) c.276+16263G>C (n.276+16263G>C) c.*220+6281C>G (n.*220+6281C>G) c.897C>G (p.Ala299=) c.924C>G (p.Ala308=) c.1779C>G (p.Ala593=) c.1593C>G (p.Ala531=) c.1512C>G (p.Ala504=) c.1218C>G (p.Ala406=) c.1599C>G (p.Ala533=) | |
2 | g.48687943G>T | CA426125502 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1854C>A (p.Ala618=) c.*166C>A (n.*166C>A) c.3441+16263G>T (n.3441+16263G>T) c.*598C>A (n.*598C>A) c.1773C>A (p.Ala591=) c.276+16263G>T (n.276+16263G>T) c.*220+6281C>A (n.*220+6281C>A) c.897C>A (p.Ala299=) c.924C>A (p.Ala308=) c.1779C>A (p.Ala593=) c.1593C>A (p.Ala531=) c.1512C>A (p.Ala504=) c.1218C>A (p.Ala406=) c.1599C>A (p.Ala533=) | gnomAD v4 |
2 | g.48687944G>A | CA346744172 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1853C>T (p.Ala618Val) c.*165C>T (n.*165C>T) c.3441+16264G>A (n.3441+16264G>A) c.*597C>T (n.*597C>T) c.1772C>T (p.Ala591Val) c.276+16264G>A (n.276+16264G>A) c.*220+6280C>T (n.*220+6280C>T) c.896C>T (p.Ala299Val) c.923C>T (p.Ala308Val) c.1778C>T (p.Ala593Val) c.1592C>T (p.Ala531Val) c.1511C>T (p.Ala504Val) c.1217C>T (p.Ala406Val) c.1598C>T (p.Ala533Val) | gnomAD v4 |
2 | g.48687944G>C | CA346744177 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1853C>G (p.Ala618Gly) c.*165C>G (n.*165C>G) c.3441+16264G>C (n.3441+16264G>C) c.*597C>G (n.*597C>G) c.1772C>G (p.Ala591Gly) c.276+16264G>C (n.276+16264G>C) c.*220+6280C>G (n.*220+6280C>G) c.896C>G (p.Ala299Gly) c.923C>G (p.Ala308Gly) c.1778C>G (p.Ala593Gly) c.1592C>G (p.Ala531Gly) c.1511C>G (p.Ala504Gly) c.1217C>G (p.Ala406Gly) c.1598C>G (p.Ala533Gly) | |
2 | g.48687944G>T | CA346744176 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1853C>A (p.Ala618Asp) c.*165C>A (n.*165C>A) c.3441+16264G>T (n.3441+16264G>T) c.*597C>A (n.*597C>A) c.1772C>A (p.Ala591Asp) c.276+16264G>T (n.276+16264G>T) c.*220+6280C>A (n.*220+6280C>A) c.896C>A (p.Ala299Asp) c.923C>A (p.Ala308Asp) c.1778C>A (p.Ala593Asp) c.1592C>A (p.Ala531Asp) c.1511C>A (p.Ala504Asp) c.1217C>A (p.Ala406Asp) c.1598C>A (p.Ala533Asp) | |
2 | g.48687945C>A | CA346744180 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1852G>T (p.Ala618Ser) c.*164G>T (n.*164G>T) c.3441+16265C>A (n.3441+16265C>A) c.*596G>T (n.*596G>T) c.1771G>T (p.Ala591Ser) c.276+16265C>A (n.276+16265C>A) c.*220+6279G>T (n.*220+6279G>T) c.895G>T (p.Ala299Ser) c.922G>T (p.Ala308Ser) c.1777G>T (p.Ala593Ser) c.1591G>T (p.Ala531Ser) c.1510G>T (p.Ala504Ser) c.1216G>T (p.Ala406Ser) c.1597G>T (p.Ala533Ser) | dbSNP |
2 | g.48687945C= | CA1248600914 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1852G= (p.Ala618=) c.*164G= (n.*164G=) c.3441+16265C= (n.3441+16265C=) c.*596G= (n.*596G=) c.1771G= (p.Ala591=) c.276+16265C= (n.276+16265C=) c.*220+6279G= (n.*220+6279G=) c.895G= (p.Ala299=) c.922G= (p.Ala308=) c.1777G= (p.Ala593=) c.1591G= (p.Ala531=) c.1510G= (p.Ala504=) c.1216G= (p.Ala406=) c.1597G= (p.Ala533=) | |
2 | g.48687945C>G | CA346744181 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1852G>C (p.Ala618Pro) c.*164G>C (n.*164G>C) c.3441+16265C>G (n.3441+16265C>G) c.*596G>C (n.*596G>C) c.1771G>C (p.Ala591Pro) c.276+16265C>G (n.276+16265C>G) c.*220+6279G>C (n.*220+6279G>C) c.895G>C (p.Ala299Pro) c.922G>C (p.Ala308Pro) c.1777G>C (p.Ala593Pro) c.1591G>C (p.Ala531Pro) c.1510G>C (p.Ala504Pro) c.1216G>C (p.Ala406Pro) c.1597G>C (p.Ala533Pro) | |
2 | g.48687945C>T | CA1652976 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1852G>A (p.Ala618Thr) c.*164G>A (n.*164G>A) c.3441+16265C>T (n.3441+16265C>T) c.*596G>A (n.*596G>A) c.1771G>A (p.Ala591Thr) c.276+16265C>T (n.276+16265C>T) c.*220+6279G>A (n.*220+6279G>A) c.895G>A (p.Ala299Thr) c.922G>A (p.Ala308Thr) c.1777G>A (p.Ala593Thr) c.1591G>A (p.Ala531Thr) c.1510G>A (p.Ala504Thr) c.1216G>A (p.Ala406Thr) c.1597G>A (p.Ala533Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |