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