Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.48687994T>A | CA426125708 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1803A>T (p.Val601=) c.*115A>T (n.*115A>T) c.3441+16314T>A (n.3441+16314T>A) c.*547A>T (n.*547A>T) c.1722A>T (p.Val574=) c.276+16314T>A (n.276+16314T>A) c.*220+6230A>T (n.*220+6230A>T) c.846A>T (p.Val282=) c.873A>T (p.Val291=) c.1728A>T (p.Val576=) c.1542A>T (p.Val514=) c.1461A>T (p.Val487=) c.1167A>T (p.Val389=) c.1548A>T (p.Val516=) | |
2 | g.48687994T>C | CA426125709 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1803A>G (p.Val601=) c.*115A>G (n.*115A>G) c.3441+16314T>C (n.3441+16314T>C) c.*547A>G (n.*547A>G) c.1722A>G (p.Val574=) c.276+16314T>C (n.276+16314T>C) c.*220+6230A>G (n.*220+6230A>G) c.846A>G (p.Val282=) c.873A>G (p.Val291=) c.1728A>G (p.Val576=) c.1542A>G (p.Val514=) c.1461A>G (p.Val487=) c.1167A>G (p.Val389=) c.1548A>G (p.Val516=) | |
2 | g.48687994T>G | CA426125712 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1803A>C (p.Val601=) c.*115A>C (n.*115A>C) c.3441+16314T>G (n.3441+16314T>G) c.*547A>C (n.*547A>C) c.1722A>C (p.Val574=) c.276+16314T>G (n.276+16314T>G) c.*220+6230A>C (n.*220+6230A>C) c.846A>C (p.Val282=) c.873A>C (p.Val291=) c.1728A>C (p.Val576=) c.1542A>C (p.Val514=) c.1461A>C (p.Val487=) c.1167A>C (p.Val389=) c.1548A>C (p.Val516=) | |
2 | g.48687995A>C | CA346744446 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1802T>G (p.Val601Gly) c.*114T>G (n.*114T>G) c.3441+16315A>C (n.3441+16315A>C) c.*546T>G (n.*546T>G) c.1721T>G (p.Val574Gly) c.276+16315A>C (n.276+16315A>C) c.*220+6229T>G (n.*220+6229T>G) c.845T>G (p.Val282Gly) c.872T>G (p.Val291Gly) c.1727T>G (p.Val576Gly) c.1541T>G (p.Val514Gly) c.1460T>G (p.Val487Gly) c.1166T>G (p.Val389Gly) c.1547T>G (p.Val516Gly) | |
2 | g.48687995A>G | CA346744447 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1802T>C (p.Val601Ala) c.*114T>C (n.*114T>C) c.3441+16315A>G (n.3441+16315A>G) c.*546T>C (n.*546T>C) c.1721T>C (p.Val574Ala) c.276+16315A>G (n.276+16315A>G) c.*220+6229T>C (n.*220+6229T>C) c.845T>C (p.Val282Ala) c.872T>C (p.Val291Ala) c.1727T>C (p.Val576Ala) c.1541T>C (p.Val514Ala) c.1460T>C (p.Val487Ala) c.1166T>C (p.Val389Ala) c.1547T>C (p.Val516Ala) | |
2 | g.48687995A>T | CA346744448 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1802T>A (p.Val601Glu) c.*114T>A (n.*114T>A) c.3441+16315A>T (n.3441+16315A>T) c.*546T>A (n.*546T>A) c.1721T>A (p.Val574Glu) c.276+16315A>T (n.276+16315A>T) c.*220+6229T>A (n.*220+6229T>A) c.845T>A (p.Val282Glu) c.872T>A (p.Val291Glu) c.1727T>A (p.Val576Glu) c.1541T>A (p.Val514Glu) c.1460T>A (p.Val487Glu) c.1166T>A (p.Val389Glu) c.1547T>A (p.Val516Glu) | COSMIC |
2 | g.48687996C>A | CA346744449 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1801G>T (p.Val601Leu) c.*113G>T (n.*113G>T) c.3441+16316C>A (n.3441+16316C>A) c.*545G>T (n.*545G>T) c.1720G>T (p.Val574Leu) c.276+16316C>A (n.276+16316C>A) c.*220+6228G>T (n.*220+6228G>T) c.844G>T (p.Val282Leu) c.871G>T (p.Val291Leu) c.1726G>T (p.Val576Leu) c.1540G>T (p.Val514Leu) c.1459G>T (p.Val487Leu) c.1165G>T (p.Val389Leu) c.1546G>T (p.Val516Leu) | |
2 | g.48687996C>G | CA346744450 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1801G>C (p.Val601Leu) c.*113G>C (n.*113G>C) c.3441+16316C>G (n.3441+16316C>G) c.*545G>C (n.*545G>C) c.1720G>C (p.Val574Leu) c.276+16316C>G (n.276+16316C>G) c.*220+6228G>C (n.*220+6228G>C) c.844G>C (p.Val282Leu) c.871G>C (p.Val291Leu) c.1726G>C (p.Val576Leu) c.1540G>C (p.Val514Leu) c.1459G>C (p.Val487Leu) c.1165G>C (p.Val389Leu) c.1546G>C (p.Val516Leu) | |
2 | g.48687996C>T | CA346744452 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1801G>A (p.Val601Ile) c.*113G>A (n.*113G>A) c.3441+16316C>T (n.3441+16316C>T) c.*545G>A (n.*545G>A) c.1720G>A (p.Val574Ile) c.276+16316C>T (n.276+16316C>T) c.*220+6228G>A (n.*220+6228G>A) c.844G>A (p.Val282Ile) c.871G>A (p.Val291Ile) c.1726G>A (p.Val576Ile) c.1540G>A (p.Val514Ile) c.1459G>A (p.Val487Ile) c.1165G>A (p.Val389Ile) c.1546G>A (p.Val516Ile) | |
2 | g.48687997T>A | CA426125715 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1800A>T (p.Thr600=) c.*112A>T (n.*112A>T) c.3441+16317T>A (n.3441+16317T>A) c.*544A>T (n.*544A>T) c.1719A>T (p.Thr573=) c.276+16317T>A (n.276+16317T>A) c.*220+6227A>T (n.*220+6227A>T) c.843A>T (p.Thr281=) c.870A>T (p.Thr290=) c.1725A>T (p.Thr575=) c.1539A>T (p.Thr513=) c.1458A>T (p.Thr486=) c.1164A>T (p.Thr388=) c.1545A>T (p.Thr515=) | |
2 | g.48687997T>C | CA426125716 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1800A>G (p.Thr600=) c.*112A>G (n.*112A>G) c.3441+16317T>C (n.3441+16317T>C) c.*544A>G (n.*544A>G) c.1719A>G (p.Thr573=) c.276+16317T>C (n.276+16317T>C) c.*220+6227A>G (n.*220+6227A>G) c.843A>G (p.Thr281=) c.870A>G (p.Thr290=) c.1725A>G (p.Thr575=) c.1539A>G (p.Thr513=) c.1458A>G (p.Thr486=) c.1164A>G (p.Thr388=) c.1545A>G (p.Thr515=) | gnomAD v4 |
2 | g.48687997T>G | CA426125719 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1800A>C (p.Thr600=) c.*112A>C (n.*112A>C) c.3441+16317T>G (n.3441+16317T>G) c.*544A>C (n.*544A>C) c.1719A>C (p.Thr573=) c.276+16317T>G (n.276+16317T>G) c.*220+6227A>C (n.*220+6227A>C) c.843A>C (p.Thr281=) c.870A>C (p.Thr290=) c.1725A>C (p.Thr575=) c.1539A>C (p.Thr513=) c.1458A>C (p.Thr486=) c.1164A>C (p.Thr388=) c.1545A>C (p.Thr515=) | |
2 | g.48687998G>A | CA1652986 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1799C>T (p.Thr600Ile) c.*111C>T (n.*111C>T) c.3441+16318G>A (n.3441+16318G>A) c.*543C>T (n.*543C>T) c.1718C>T (p.Thr573Ile) c.276+16318G>A (n.276+16318G>A) c.*220+6226C>T (n.*220+6226C>T) c.842C>T (p.Thr281Ile) c.869C>T (p.Thr290Ile) c.1724C>T (p.Thr575Ile) c.1538C>T (p.Thr513Ile) c.1457C>T (p.Thr486Ile) c.1163C>T (p.Thr388Ile) c.1544C>T (p.Thr515Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687998G>C | CA346744455 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1799C>G (p.Thr600Arg) c.*111C>G (n.*111C>G) c.3441+16318G>C (n.3441+16318G>C) c.*543C>G (n.*543C>G) c.1718C>G (p.Thr573Arg) c.276+16318G>C (n.276+16318G>C) c.*220+6226C>G (n.*220+6226C>G) c.842C>G (p.Thr281Arg) c.869C>G (p.Thr290Arg) c.1724C>G (p.Thr575Arg) c.1538C>G (p.Thr513Arg) c.1457C>G (p.Thr486Arg) c.1163C>G (p.Thr388Arg) c.1544C>G (p.Thr515Arg) | |
2 | g.48687998G= | CA1248600939 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1799C= (p.Thr600=) c.*111C= (n.*111C=) c.3441+16318G= (n.3441+16318G=) c.*543C= (n.*543C=) c.1718C= (p.Thr573=) c.276+16318G= (n.276+16318G=) c.*220+6226C= (n.*220+6226C=) c.842C= (p.Thr281=) c.869C= (p.Thr290=) c.1724C= (p.Thr575=) c.1538C= (p.Thr513=) c.1457C= (p.Thr486=) c.1163C= (p.Thr388=) c.1544C= (p.Thr515=) | |
2 | g.48687998G>T | CA346744454 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1799C>A (p.Thr600Lys) c.*111C>A (n.*111C>A) c.3441+16318G>T (n.3441+16318G>T) c.*543C>A (n.*543C>A) c.1718C>A (p.Thr573Lys) c.276+16318G>T (n.276+16318G>T) c.*220+6226C>A (n.*220+6226C>A) c.842C>A (p.Thr281Lys) c.869C>A (p.Thr290Lys) c.1724C>A (p.Thr575Lys) c.1538C>A (p.Thr513Lys) c.1457C>A (p.Thr486Lys) c.1163C>A (p.Thr388Lys) c.1544C>A (p.Thr515Lys) | |
2 | g.48687999T>A | CA346744456 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1798A>T (p.Thr600Ser) c.*110A>T (n.*110A>T) c.3441+16319T>A (n.3441+16319T>A) c.*542A>T (n.*542A>T) c.1717A>T (p.Thr573Ser) c.276+16319T>A (n.276+16319T>A) c.*220+6225A>T (n.*220+6225A>T) c.841A>T (p.Thr281Ser) c.868A>T (p.Thr290Ser) c.1723A>T (p.Thr575Ser) c.1537A>T (p.Thr513Ser) c.1456A>T (p.Thr486Ser) c.1162A>T (p.Thr388Ser) c.1543A>T (p.Thr515Ser) | |
2 | g.48687999T>C | CA346744459 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1798A>G (p.Thr600Ala) c.*110A>G (n.*110A>G) c.3441+16319T>C (n.3441+16319T>C) c.*542A>G (n.*542A>G) c.1717A>G (p.Thr573Ala) c.276+16319T>C (n.276+16319T>C) c.*220+6225A>G (n.*220+6225A>G) c.841A>G (p.Thr281Ala) c.868A>G (p.Thr290Ala) c.1723A>G (p.Thr575Ala) c.1537A>G (p.Thr513Ala) c.1456A>G (p.Thr486Ala) c.1162A>G (p.Thr388Ala) c.1543A>G (p.Thr515Ala) | |
2 | g.48687999T>G | CA346744457 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1798A>C (p.Thr600Pro) c.*110A>C (n.*110A>C) c.3441+16319T>G (n.3441+16319T>G) c.*542A>C (n.*542A>C) c.1717A>C (p.Thr573Pro) c.276+16319T>G (n.276+16319T>G) c.*220+6225A>C (n.*220+6225A>C) c.841A>C (p.Thr281Pro) c.868A>C (p.Thr290Pro) c.1723A>C (p.Thr575Pro) c.1537A>C (p.Thr513Pro) c.1456A>C (p.Thr486Pro) c.1162A>C (p.Thr388Pro) c.1543A>C (p.Thr515Pro) | |
2 | g.48688000G>A | CA426125728 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1797C>T (p.Ile599=) c.*109C>T (n.*109C>T) c.3441+16320G>A (n.3441+16320G>A) c.*541C>T (n.*541C>T) c.1716C>T (p.Ile572=) c.276+16320G>A (n.276+16320G>A) c.*220+6224C>T (n.*220+6224C>T) c.840C>T (p.Ile280=) c.867C>T (p.Ile289=) c.1722C>T (p.Ile574=) c.1536C>T (p.Ile512=) c.1455C>T (p.Ile485=) c.1161C>T (p.Ile387=) c.1542C>T (p.Ile514=) | gnomAD v4 |
2 | g.48688000G>C | CA346744460 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1797C>G (p.Ile599Met) c.*109C>G (n.*109C>G) c.3441+16320G>C (n.3441+16320G>C) c.*541C>G (n.*541C>G) c.1716C>G (p.Ile572Met) c.276+16320G>C (n.276+16320G>C) c.*220+6224C>G (n.*220+6224C>G) c.840C>G (p.Ile280Met) c.867C>G (p.Ile289Met) c.1722C>G (p.Ile574Met) c.1536C>G (p.Ile512Met) c.1455C>G (p.Ile485Met) c.1161C>G (p.Ile387Met) c.1542C>G (p.Ile514Met) | gnomAD v4 |
2 | g.48688000G= | CA1248600940 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1797C= (p.Ile599=) c.*109C= (n.*109C=) c.3441+16320G= (n.3441+16320G=) c.*541C= (n.*541C=) c.1716C= (p.Ile572=) c.276+16320G= (n.276+16320G=) c.*220+6224C= (n.*220+6224C=) c.840C= (p.Ile280=) c.867C= (p.Ile289=) c.1722C= (p.Ile574=) c.1536C= (p.Ile512=) c.1455C= (p.Ile485=) c.1161C= (p.Ile387=) c.1542C= (p.Ile514=) | |
2 | g.48688000G>T | CA1652987 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1797C>A (p.Ile599=) c.*109C>A (n.*109C>A) c.3441+16320G>T (n.3441+16320G>T) c.*541C>A (n.*541C>A) c.1716C>A (p.Ile572=) c.276+16320G>T (n.276+16320G>T) c.*220+6224C>A (n.*220+6224C>A) c.840C>A (p.Ile280=) c.867C>A (p.Ile289=) c.1722C>A (p.Ile574=) c.1536C>A (p.Ile512=) c.1455C>A (p.Ile485=) c.1161C>A (p.Ile387=) c.1542C>A (p.Ile514=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688001A= | CA1248600941 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1796T= (p.Ile599=) c.*108T= (n.*108T=) c.3441+16321A= (n.3441+16321A=) c.*540T= (n.*540T=) c.1715T= (p.Ile572=) c.276+16321A= (n.276+16321A=) c.*220+6223T= (n.*220+6223T=) c.839T= (p.Ile280=) c.866T= (p.Ile289=) c.1721T= (p.Ile574=) c.1535T= (p.Ile512=) c.1454T= (p.Ile485=) c.1160T= (p.Ile387=) c.1541T= (p.Ile514=) | |
2 | g.48688001A>C | CA346744465 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1796T>G (p.Ile599Ser) c.*108T>G (n.*108T>G) c.3441+16321A>C (n.3441+16321A>C) c.*540T>G (n.*540T>G) c.1715T>G (p.Ile572Ser) c.276+16321A>C (n.276+16321A>C) c.*220+6223T>G (n.*220+6223T>G) c.839T>G (p.Ile280Ser) c.866T>G (p.Ile289Ser) c.1721T>G (p.Ile574Ser) c.1535T>G (p.Ile512Ser) c.1454T>G (p.Ile485Ser) c.1160T>G (p.Ile387Ser) c.1541T>G (p.Ile514Ser) | |
2 | g.48688001A>G | CA346744467 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1796T>C (p.Ile599Thr) c.*108T>C (n.*108T>C) c.3441+16321A>G (n.3441+16321A>G) c.*540T>C (n.*540T>C) c.1715T>C (p.Ile572Thr) c.276+16321A>G (n.276+16321A>G) c.*220+6223T>C (n.*220+6223T>C) c.839T>C (p.Ile280Thr) c.866T>C (p.Ile289Thr) c.1721T>C (p.Ile574Thr) c.1535T>C (p.Ile512Thr) c.1454T>C (p.Ile485Thr) c.1160T>C (p.Ile387Thr) c.1541T>C (p.Ile514Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688001A>T | CA1652988 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1796T>A (p.Ile599Asn) c.*108T>A (n.*108T>A) c.3441+16321A>T (n.3441+16321A>T) c.*540T>A (n.*540T>A) c.1715T>A (p.Ile572Asn) c.276+16321A>T (n.276+16321A>T) c.*220+6223T>A (n.*220+6223T>A) c.839T>A (p.Ile280Asn) c.866T>A (p.Ile289Asn) c.1721T>A (p.Ile574Asn) c.1535T>A (p.Ile512Asn) c.1454T>A (p.Ile485Asn) c.1160T>A (p.Ile387Asn) c.1541T>A (p.Ile514Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688002T>A | CA346744471 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1795A>T (p.Ile599Phe) c.*107A>T (n.*107A>T) c.3441+16322T>A (n.3441+16322T>A) c.*539A>T (n.*539A>T) c.1714A>T (p.Ile572Phe) c.276+16322T>A (n.276+16322T>A) c.*220+6222A>T (n.*220+6222A>T) c.838A>T (p.Ile280Phe) c.865A>T (p.Ile289Phe) c.1720A>T (p.Ile574Phe) c.1534A>T (p.Ile512Phe) c.1453A>T (p.Ile485Phe) c.1159A>T (p.Ile387Phe) c.1540A>T (p.Ile514Phe) | |
2 | g.48688002T>C | CA346744474 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1795A>G (p.Ile599Val) c.*107A>G (n.*107A>G) c.3441+16322T>C (n.3441+16322T>C) c.*539A>G (n.*539A>G) c.1714A>G (p.Ile572Val) c.276+16322T>C (n.276+16322T>C) c.*220+6222A>G (n.*220+6222A>G) c.838A>G (p.Ile280Val) c.865A>G (p.Ile289Val) c.1720A>G (p.Ile574Val) c.1534A>G (p.Ile512Val) c.1453A>G (p.Ile485Val) c.1159A>G (p.Ile387Val) c.1540A>G (p.Ile514Val) | gnomAD v4 |
2 | g.48688002T>G | CA346744481 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1795A>C (p.Ile599Leu) c.*107A>C (n.*107A>C) c.3441+16322T>G (n.3441+16322T>G) c.*539A>C (n.*539A>C) c.1714A>C (p.Ile572Leu) c.276+16322T>G (n.276+16322T>G) c.*220+6222A>C (n.*220+6222A>C) c.838A>C (p.Ile280Leu) c.865A>C (p.Ile289Leu) c.1720A>C (p.Ile574Leu) c.1534A>C (p.Ile512Leu) c.1453A>C (p.Ile485Leu) c.1159A>C (p.Ile387Leu) c.1540A>C (p.Ile514Leu) | |
2 | g.48688003A>C | CA426124883 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1794T>G (p.Leu598=) c.*106T>G (n.*106T>G) c.3441+16323A>C (n.3441+16323A>C) c.*538T>G (n.*538T>G) c.1713T>G (p.Leu571=) c.276+16323A>C (n.276+16323A>C) c.*220+6221T>G (n.*220+6221T>G) c.837T>G (p.Leu279=) c.864T>G (p.Leu288=) c.1719T>G (p.Leu573=) c.1533T>G (p.Leu511=) c.1452T>G (p.Leu484=) c.1158T>G (p.Leu386=) c.1539T>G (p.Leu513=) | |
2 | g.48688003A>G | CA426124885 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1794T>C (p.Leu598=) c.*106T>C (n.*106T>C) c.3441+16323A>G (n.3441+16323A>G) c.*538T>C (n.*538T>C) c.1713T>C (p.Leu571=) c.276+16323A>G (n.276+16323A>G) c.*220+6221T>C (n.*220+6221T>C) c.837T>C (p.Leu279=) c.864T>C (p.Leu288=) c.1719T>C (p.Leu573=) c.1533T>C (p.Leu511=) c.1452T>C (p.Leu484=) c.1158T>C (p.Leu386=) c.1539T>C (p.Leu513=) | |
2 | g.48688003A>T | CA426124884 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1794T>A (p.Leu598=) c.*106T>A (n.*106T>A) c.3441+16323A>T (n.3441+16323A>T) c.*538T>A (n.*538T>A) c.1713T>A (p.Leu571=) c.276+16323A>T (n.276+16323A>T) c.*220+6221T>A (n.*220+6221T>A) c.837T>A (p.Leu279=) c.864T>A (p.Leu288=) c.1719T>A (p.Leu573=) c.1533T>A (p.Leu511=) c.1452T>A (p.Leu484=) c.1158T>A (p.Leu386=) c.1539T>A (p.Leu513=) | |
2 | g.48688004A>C | CA346744487 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1793T>G (p.Leu598Arg) c.*105T>G (n.*105T>G) c.3441+16324A>C (n.3441+16324A>C) c.*537T>G (n.*537T>G) c.1712T>G (p.Leu571Arg) c.276+16324A>C (n.276+16324A>C) c.*220+6220T>G (n.*220+6220T>G) c.836T>G (p.Leu279Arg) c.863T>G (p.Leu288Arg) c.1718T>G (p.Leu573Arg) c.1532T>G (p.Leu511Arg) c.1451T>G (p.Leu484Arg) c.1157T>G (p.Leu386Arg) c.1538T>G (p.Leu513Arg) | |
2 | g.48688004A>G | CA346744490 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1793T>C (p.Leu598Pro) c.*105T>C (n.*105T>C) c.3441+16324A>G (n.3441+16324A>G) c.*537T>C (n.*537T>C) c.1712T>C (p.Leu571Pro) c.276+16324A>G (n.276+16324A>G) c.*220+6220T>C (n.*220+6220T>C) c.836T>C (p.Leu279Pro) c.863T>C (p.Leu288Pro) c.1718T>C (p.Leu573Pro) c.1532T>C (p.Leu511Pro) c.1451T>C (p.Leu484Pro) c.1157T>C (p.Leu386Pro) c.1538T>C (p.Leu513Pro) | |
2 | g.48688004A>T | CA346744492 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1793T>A (p.Leu598His) c.*105T>A (n.*105T>A) c.3441+16324A>T (n.3441+16324A>T) c.*537T>A (n.*537T>A) c.1712T>A (p.Leu571His) c.276+16324A>T (n.276+16324A>T) c.*220+6220T>A (n.*220+6220T>A) c.836T>A (p.Leu279His) c.863T>A (p.Leu288His) c.1718T>A (p.Leu573His) c.1532T>A (p.Leu511His) c.1451T>A (p.Leu484His) c.1157T>A (p.Leu386His) c.1538T>A (p.Leu513His) | |
2 | g.48688005G>A | CA346744499 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1792C>T (p.Leu598Phe) c.*104C>T (n.*104C>T) c.3441+16325G>A (n.3441+16325G>A) c.*536C>T (n.*536C>T) c.1711C>T (p.Leu571Phe) c.276+16325G>A (n.276+16325G>A) c.*220+6219C>T (n.*220+6219C>T) c.835C>T (p.Leu279Phe) c.862C>T (p.Leu288Phe) c.1717C>T (p.Leu573Phe) c.1531C>T (p.Leu511Phe) c.1450C>T (p.Leu484Phe) c.1156C>T (p.Leu386Phe) c.1537C>T (p.Leu513Phe) | |
2 | g.48688005G>C | CA346744494 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1792C>G (p.Leu598Val) c.*104C>G (n.*104C>G) c.3441+16325G>C (n.3441+16325G>C) c.*536C>G (n.*536C>G) c.1711C>G (p.Leu571Val) c.276+16325G>C (n.276+16325G>C) c.*220+6219C>G (n.*220+6219C>G) c.835C>G (p.Leu279Val) c.862C>G (p.Leu288Val) c.1717C>G (p.Leu573Val) c.1531C>G (p.Leu511Val) c.1450C>G (p.Leu484Val) c.1156C>G (p.Leu386Val) c.1537C>G (p.Leu513Val) | |
2 | g.48688005G>T | CA346744495 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1792C>A (p.Leu598Ile) c.*104C>A (n.*104C>A) c.3441+16325G>T (n.3441+16325G>T) c.*536C>A (n.*536C>A) c.1711C>A (p.Leu571Ile) c.276+16325G>T (n.276+16325G>T) c.*220+6219C>A (n.*220+6219C>A) c.835C>A (p.Leu279Ile) c.862C>A (p.Leu288Ile) c.1717C>A (p.Leu573Ile) c.1531C>A (p.Leu511Ile) c.1450C>A (p.Leu484Ile) c.1156C>A (p.Leu386Ile) c.1537C>A (p.Leu513Ile) | |
2 | g.48688006A>C | CA426124887 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1791T>G (p.Pro597=) c.*103T>G (n.*103T>G) c.3441+16326A>C (n.3441+16326A>C) c.*535T>G (n.*535T>G) c.1710T>G (p.Pro570=) c.276+16326A>C (n.276+16326A>C) c.*220+6218T>G (n.*220+6218T>G) c.834T>G (p.Pro278=) c.861T>G (p.Pro287=) c.1716T>G (p.Pro572=) c.1530T>G (p.Pro510=) c.1449T>G (p.Pro483=) c.1155T>G (p.Pro385=) c.1536T>G (p.Pro512=) | |
2 | g.48688006A>G | CA426124888 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1791T>C (p.Pro597=) c.*103T>C (n.*103T>C) c.3441+16326A>G (n.3441+16326A>G) c.*535T>C (n.*535T>C) c.1710T>C (p.Pro570=) c.276+16326A>G (n.276+16326A>G) c.*220+6218T>C (n.*220+6218T>C) c.834T>C (p.Pro278=) c.861T>C (p.Pro287=) c.1716T>C (p.Pro572=) c.1530T>C (p.Pro510=) c.1449T>C (p.Pro483=) c.1155T>C (p.Pro385=) c.1536T>C (p.Pro512=) | |
2 | g.48688006A>T | CA426124889 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1791T>A (p.Pro597=) c.*103T>A (n.*103T>A) c.3441+16326A>T (n.3441+16326A>T) c.*535T>A (n.*535T>A) c.1710T>A (p.Pro570=) c.276+16326A>T (n.276+16326A>T) c.*220+6218T>A (n.*220+6218T>A) c.834T>A (p.Pro278=) c.861T>A (p.Pro287=) c.1716T>A (p.Pro572=) c.1530T>A (p.Pro510=) c.1449T>A (p.Pro483=) c.1155T>A (p.Pro385=) c.1536T>A (p.Pro512=) | |
2 | g.48688007G>A | CA346744501 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1790C>T (p.Pro597Leu) c.*102C>T (n.*102C>T) c.3441+16327G>A (n.3441+16327G>A) c.*534C>T (n.*534C>T) c.1709C>T (p.Pro570Leu) c.276+16327G>A (n.276+16327G>A) c.*220+6217C>T (n.*220+6217C>T) c.833C>T (p.Pro278Leu) c.860C>T (p.Pro287Leu) c.1715C>T (p.Pro572Leu) c.1529C>T (p.Pro510Leu) c.1448C>T (p.Pro483Leu) c.1154C>T (p.Pro385Leu) c.1535C>T (p.Pro512Leu) | dbSNP |
2 | g.48688007G>C | CA346744504 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1790C>G (p.Pro597Arg) c.*102C>G (n.*102C>G) c.3441+16327G>C (n.3441+16327G>C) c.*534C>G (n.*534C>G) c.1709C>G (p.Pro570Arg) c.276+16327G>C (n.276+16327G>C) c.*220+6217C>G (n.*220+6217C>G) c.833C>G (p.Pro278Arg) c.860C>G (p.Pro287Arg) c.1715C>G (p.Pro572Arg) c.1529C>G (p.Pro510Arg) c.1448C>G (p.Pro483Arg) c.1154C>G (p.Pro385Arg) c.1535C>G (p.Pro512Arg) | |
2 | g.48688007G= | CA1248600942 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1790C= (p.Pro597=) c.*102C= (n.*102C=) c.3441+16327G= (n.3441+16327G=) c.*534C= (n.*534C=) c.1709C= (p.Pro570=) c.276+16327G= (n.276+16327G=) c.*220+6217C= (n.*220+6217C=) c.833C= (p.Pro278=) c.860C= (p.Pro287=) c.1715C= (p.Pro572=) c.1529C= (p.Pro510=) c.1448C= (p.Pro483=) c.1154C= (p.Pro385=) c.1535C= (p.Pro512=) | |
2 | g.48688007G>T | CA346744506 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1790C>A (p.Pro597His) c.*102C>A (n.*102C>A) c.3441+16327G>T (n.3441+16327G>T) c.*534C>A (n.*534C>A) c.1709C>A (p.Pro570His) c.276+16327G>T (n.276+16327G>T) c.*220+6217C>A (n.*220+6217C>A) c.833C>A (p.Pro278His) c.860C>A (p.Pro287His) c.1715C>A (p.Pro572His) c.1529C>A (p.Pro510His) c.1448C>A (p.Pro483His) c.1154C>A (p.Pro385His) c.1535C>A (p.Pro512His) | COSMIC |
2 | g.48688008G>A | CA346744508 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1789C>T (p.Pro597Ser) c.*101C>T (n.*101C>T) c.3441+16328G>A (n.3441+16328G>A) c.*533C>T (n.*533C>T) c.1708C>T (p.Pro570Ser) c.276+16328G>A (n.276+16328G>A) c.*220+6216C>T (n.*220+6216C>T) c.832C>T (p.Pro278Ser) c.859C>T (p.Pro287Ser) c.1714C>T (p.Pro572Ser) c.1528C>T (p.Pro510Ser) c.1447C>T (p.Pro483Ser) c.1153C>T (p.Pro385Ser) c.1534C>T (p.Pro512Ser) | dbSNP gnomAD v4 |
2 | g.48688008G>C | CA346744512 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1789C>G (p.Pro597Ala) c.*101C>G (n.*101C>G) c.3441+16328G>C (n.3441+16328G>C) c.*533C>G (n.*533C>G) c.1708C>G (p.Pro570Ala) c.276+16328G>C (n.276+16328G>C) c.*220+6216C>G (n.*220+6216C>G) c.832C>G (p.Pro278Ala) c.859C>G (p.Pro287Ala) c.1714C>G (p.Pro572Ala) c.1528C>G (p.Pro510Ala) c.1447C>G (p.Pro483Ala) c.1153C>G (p.Pro385Ala) c.1534C>G (p.Pro512Ala) | |
2 | g.48688008G= | CA1248600943 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1789C= (p.Pro597=) c.*101C= (n.*101C=) c.3441+16328G= (n.3441+16328G=) c.*533C= (n.*533C=) c.1708C= (p.Pro570=) c.276+16328G= (n.276+16328G=) c.*220+6216C= (n.*220+6216C=) c.832C= (p.Pro278=) c.859C= (p.Pro287=) c.1714C= (p.Pro572=) c.1528C= (p.Pro510=) c.1447C= (p.Pro483=) c.1153C= (p.Pro385=) c.1534C= (p.Pro512=) | |
2 | g.48688008G>T | CA346744514 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1789C>A (p.Pro597Thr) c.*101C>A (n.*101C>A) c.3441+16328G>T (n.3441+16328G>T) c.*533C>A (n.*533C>A) c.1708C>A (p.Pro570Thr) c.276+16328G>T (n.276+16328G>T) c.*220+6216C>A (n.*220+6216C>A) c.832C>A (p.Pro278Thr) c.859C>A (p.Pro287Thr) c.1714C>A (p.Pro572Thr) c.1528C>A (p.Pro510Thr) c.1447C>A (p.Pro483Thr) c.1153C>A (p.Pro385Thr) c.1534C>A (p.Pro512Thr) |