| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |