Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.48687692A= | CA1248600795 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.*5T= (n.*5T=) c.*417T= (n.*417T=) c.3441+16012A= (n.3441+16012A=) c.*849T= (n.*849T=) c.2024T= (n.2024T=) c.276+16012A= (n.276+16012A=) c.*220+6532T= (n.*220+6532T=) | |
2 | g.48687692A>C | CA1652924 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.*5T>G (n.*5T>G) c.*417T>G (n.*417T>G) c.3441+16012A>C (n.3441+16012A>C) c.*849T>G (n.*849T>G) c.2024T>G (n.2024T>G) c.276+16012A>C (n.276+16012A>C) c.*220+6532T>G (n.*220+6532T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687692A>G | CA1652923 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.*5T>C (n.*5T>C) c.*417T>C (n.*417T>C) c.3441+16012A>G (n.3441+16012A>G) c.*849T>C (n.*849T>C) c.2024T>C (n.2024T>C) c.276+16012A>G (n.276+16012A>G) c.*220+6532T>C (n.*220+6532T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687692A>T | CA532706156 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.*5T>A (n.*5T>A) c.*417T>A (n.*417T>A) c.3441+16012A>T (n.3441+16012A>T) c.*849T>A (n.*849T>A) c.2024T>A (n.2024T>A) c.276+16012A>T (n.276+16012A>T) c.*220+6532T>A (n.*220+6532T>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687693A= | CA1248600796 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.*4T= (n.*4T=) c.*416T= (n.*416T=) c.3441+16013A= (n.3441+16013A=) c.*848T= (n.*848T=) c.2023T= (n.2023T=) c.276+16013A= (n.276+16013A=) c.*220+6531T= (n.*220+6531T=) | |
2 | g.48687693A>G | CA1652925 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.*4T>C (n.*4T>C) c.*416T>C (n.*416T>C) c.3441+16013A>G (n.3441+16013A>G) c.*848T>C (n.*848T>C) c.2023T>C (n.2023T>C) c.276+16013A>G (n.276+16013A>G) c.*220+6531T>C (n.*220+6531T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687694C>T | CA2658992074 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.*3G>A (n.*3G>A) c.*415G>A (n.*415G>A) c.3441+16014C>T (n.3441+16014C>T) c.*847G>A (n.*847G>A) c.2022G>A (n.2022G>A) c.276+16014C>T (n.276+16014C>T) c.*220+6530G>A (n.*220+6530G>A) | gnomAD v4 |
2 | g.48687695A>T | CA2658992075 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.*2T>A (n.*2T>A) c.*414T>A (n.*414T>A) c.3441+16015A>T (n.3441+16015A>T) c.*846T>A (n.*846T>A) c.2021T>A (n.2021T>A) c.276+16015A>T (n.276+16015A>T) c.*220+6529T>A (n.*220+6529T>A) | gnomAD v4 |
2 | g.48687696G>A | CA769575175 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.*1C>T (n.*1C>T) c.*413C>T (n.*413C>T) c.3441+16016G>A (n.3441+16016G>A) c.*845C>T (n.*845C>T) c.2020C>T (n.2020C>T) c.276+16016G>A (n.276+16016G>A) c.*220+6528C>T (n.*220+6528C>T) | dbSNP |
2 | g.48687696G= | CA1248600797 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.*1C= (n.*1C=) c.*413C= (n.*413C=) c.3441+16016G= (n.3441+16016G=) c.*845C= (n.*845C=) c.2020C= (n.2020C=) c.276+16016G= (n.276+16016G=) c.*220+6528C= (n.*220+6528C=) | |
2 | g.48687696G>T | CA646657342 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.*1C>A (n.*1C>A) c.*413C>A (n.*413C>A) c.3441+16016G>T (n.3441+16016G>T) c.*845C>A (n.*845C>A) c.2020C>A (n.2020C>A) c.276+16016G>T (n.276+16016G>T) c.*220+6528C>A (n.*220+6528C>A) | gnomAD v4 COSMIC |
2 | g.48687697T>A | CA346742731 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2100A>T (p.Ter700Tyr) c.*412A>T (n.*412A>T) c.3441+16017T>A (n.3441+16017T>A) c.*844A>T (n.*844A>T) c.2019A>T (p.Ter673Tyr) c.276+16017T>A (n.276+16017T>A) c.*220+6527A>T (n.*220+6527A>T) c.1143A>T (p.Ter381Tyr) c.1170A>T (p.Ter390Tyr) c.2025A>T (p.Ter675Tyr) c.1839A>T (p.Ter613Tyr) c.1758A>T (p.Ter586Tyr) c.1464A>T (p.Ter488Tyr) c.1845A>T (p.Ter615Tyr) | |
2 | g.48687697T>C | CA426124441 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2100A>G (p.Ter700=) c.*412A>G (n.*412A>G) c.3441+16017T>C (n.3441+16017T>C) c.*844A>G (n.*844A>G) c.2019A>G (p.Ter673=) c.276+16017T>C (n.276+16017T>C) c.*220+6527A>G (n.*220+6527A>G) c.1143A>G (p.Ter381=) c.1170A>G (p.Ter390=) c.2025A>G (p.Ter675=) c.1839A>G (p.Ter613=) c.1758A>G (p.Ter586=) c.1464A>G (p.Ter488=) c.1845A>G (p.Ter615=) | |
2 | g.48687697T>G | CA346742734 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2100A>C (p.Ter700Tyr) c.*412A>C (n.*412A>C) c.3441+16017T>G (n.3441+16017T>G) c.*844A>C (n.*844A>C) c.2019A>C (p.Ter673Tyr) c.276+16017T>G (n.276+16017T>G) c.*220+6527A>C (n.*220+6527A>C) c.1143A>C (p.Ter381Tyr) c.1170A>C (p.Ter390Tyr) c.2025A>C (p.Ter675Tyr) c.1839A>C (p.Ter613Tyr) c.1758A>C (p.Ter586Tyr) c.1464A>C (p.Ter488Tyr) c.1845A>C (p.Ter615Tyr) | |
2 | g.48687698T>A | CA346742736 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2099A>T (p.Ter700Leu) c.*411A>T (n.*411A>T) c.3441+16018T>A (n.3441+16018T>A) c.*843A>T (n.*843A>T) c.2018A>T (p.Ter673Leu) c.276+16018T>A (n.276+16018T>A) c.*220+6526A>T (n.*220+6526A>T) c.1142A>T (p.Ter381Leu) c.1169A>T (p.Ter390Leu) c.2024A>T (p.Ter675Leu) c.1838A>T (p.Ter613Leu) c.1757A>T (p.Ter586Leu) c.1463A>T (p.Ter488Leu) c.1844A>T (p.Ter615Leu) | |
2 | g.48687698T>C | CA426124442 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2099A>G (p.Ter700=) c.*411A>G (n.*411A>G) c.3441+16018T>C (n.3441+16018T>C) c.*843A>G (n.*843A>G) c.2018A>G (p.Ter673=) c.276+16018T>C (n.276+16018T>C) c.*220+6526A>G (n.*220+6526A>G) c.1142A>G (p.Ter381=) c.1169A>G (p.Ter390=) c.2024A>G (p.Ter675=) c.1838A>G (p.Ter613=) c.1757A>G (p.Ter586=) c.1463A>G (p.Ter488=) c.1844A>G (p.Ter615=) | gnomAD v4 |
2 | g.48687698T>G | CA346742738 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2099A>C (p.Ter700Ser) c.*411A>C (n.*411A>C) c.3441+16018T>G (n.3441+16018T>G) c.*843A>C (n.*843A>C) c.2018A>C (p.Ter673Ser) c.276+16018T>G (n.276+16018T>G) c.*220+6526A>C (n.*220+6526A>C) c.1142A>C (p.Ter381Ser) c.1169A>C (p.Ter390Ser) c.2024A>C (p.Ter675Ser) c.1838A>C (p.Ter613Ser) c.1757A>C (p.Ter586Ser) c.1463A>C (p.Ter488Ser) c.1844A>C (p.Ter615Ser) | |
2 | g.48687699A>C | CA346742740 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2098T>G (p.Ter700Glu) c.*410T>G (n.*410T>G) c.3441+16019A>C (n.3441+16019A>C) c.*842T>G (n.*842T>G) c.2017T>G (p.Ter673Glu) c.276+16019A>C (n.276+16019A>C) c.*220+6525T>G (n.*220+6525T>G) c.1141T>G (p.Ter381Glu) c.1168T>G (p.Ter390Glu) c.2023T>G (p.Ter675Glu) c.1837T>G (p.Ter613Glu) c.1756T>G (p.Ter586Glu) c.1462T>G (p.Ter488Glu) c.1843T>G (p.Ter615Glu) | |
2 | g.48687699A>G | CA346742741 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2098T>C (p.Ter700Gln) c.*410T>C (n.*410T>C) c.3441+16019A>G (n.3441+16019A>G) c.*842T>C (n.*842T>C) c.2017T>C (p.Ter673Gln) c.276+16019A>G (n.276+16019A>G) c.*220+6525T>C (n.*220+6525T>C) c.1141T>C (p.Ter381Gln) c.1168T>C (p.Ter390Gln) c.2023T>C (p.Ter675Gln) c.1837T>C (p.Ter613Gln) c.1756T>C (p.Ter586Gln) c.1462T>C (p.Ter488Gln) c.1843T>C (p.Ter615Gln) | |
2 | g.48687699A>T | CA346742742 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2098T>A (p.Ter700Lys) c.*410T>A (n.*410T>A) c.3441+16019A>T (n.3441+16019A>T) c.*842T>A (n.*842T>A) c.2017T>A (p.Ter673Lys) c.276+16019A>T (n.276+16019A>T) c.*220+6525T>A (n.*220+6525T>A) c.1141T>A (p.Ter381Lys) c.1168T>A (p.Ter390Lys) c.2023T>A (p.Ter675Lys) c.1837T>A (p.Ter613Lys) c.1756T>A (p.Ter586Lys) c.1462T>A (p.Ter488Lys) c.1843T>A (p.Ter615Lys) | |
2 | g.48687700A>C | CA346742743 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2097T>G (p.Cys699Trp) c.*409T>G (n.*409T>G) c.3441+16020A>C (n.3441+16020A>C) c.*841T>G (n.*841T>G) c.2016T>G (p.Cys672Trp) c.276+16020A>C (n.276+16020A>C) c.*220+6524T>G (n.*220+6524T>G) c.1140T>G (p.Cys380Trp) c.1167T>G (p.Cys389Trp) c.2022T>G (p.Cys674Trp) c.1836T>G (p.Cys612Trp) c.1755T>G (p.Cys585Trp) c.1461T>G (p.Cys487Trp) c.1842T>G (p.Cys614Trp) | |
2 | g.48687700A>G | CA426124443 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2097T>C (p.Cys699=) c.*409T>C (n.*409T>C) c.3441+16020A>G (n.3441+16020A>G) c.*841T>C (n.*841T>C) c.2016T>C (p.Cys672=) c.276+16020A>G (n.276+16020A>G) c.*220+6524T>C (n.*220+6524T>C) c.1140T>C (p.Cys380=) c.1167T>C (p.Cys389=) c.2022T>C (p.Cys674=) c.1836T>C (p.Cys612=) c.1755T>C (p.Cys585=) c.1461T>C (p.Cys487=) c.1842T>C (p.Cys614=) | |
2 | g.48687700A>T | CA346742744 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2097T>A (p.Cys699Ter) c.*409T>A (n.*409T>A) c.3441+16020A>T (n.3441+16020A>T) c.*841T>A (n.*841T>A) c.2016T>A (p.Cys672Ter) c.276+16020A>T (n.276+16020A>T) c.*220+6524T>A (n.*220+6524T>A) c.1140T>A (p.Cys380Ter) c.1167T>A (p.Cys389Ter) c.2022T>A (p.Cys674Ter) c.1836T>A (p.Cys612Ter) c.1755T>A (p.Cys585Ter) c.1461T>A (p.Cys487Ter) c.1842T>A (p.Cys614Ter) | |
2 | g.48687701C>A | CA1652926 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2096G>T (p.Cys699Phe) c.*408G>T (n.*408G>T) c.3441+16021C>A (n.3441+16021C>A) c.*840G>T (n.*840G>T) c.2015G>T (p.Cys672Phe) c.276+16021C>A (n.276+16021C>A) c.*220+6523G>T (n.*220+6523G>T) c.1139G>T (p.Cys380Phe) c.1166G>T (p.Cys389Phe) c.2021G>T (p.Cys674Phe) c.1835G>T (p.Cys612Phe) c.1754G>T (p.Cys585Phe) c.1460G>T (p.Cys487Phe) c.1841G>T (p.Cys614Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687701C= | CA1248600798 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2096G= (p.Cys699=) c.*408G= (n.*408G=) c.3441+16021C= (n.3441+16021C=) c.*840G= (n.*840G=) c.2015G= (p.Cys672=) c.276+16021C= (n.276+16021C=) c.*220+6523G= (n.*220+6523G=) c.1139G= (p.Cys380=) c.1166G= (p.Cys389=) c.2021G= (p.Cys674=) c.1835G= (p.Cys612=) c.1754G= (p.Cys585=) c.1460G= (p.Cys487=) c.1841G= (p.Cys614=) | |
2 | g.48687701C>G | CA346742748 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2096G>C (p.Cys699Ser) c.*408G>C (n.*408G>C) c.3441+16021C>G (n.3441+16021C>G) c.*840G>C (n.*840G>C) c.2015G>C (p.Cys672Ser) c.276+16021C>G (n.276+16021C>G) c.*220+6523G>C (n.*220+6523G>C) c.1139G>C (p.Cys380Ser) c.1166G>C (p.Cys389Ser) c.2021G>C (p.Cys674Ser) c.1835G>C (p.Cys612Ser) c.1754G>C (p.Cys585Ser) c.1460G>C (p.Cys487Ser) c.1841G>C (p.Cys614Ser) | |
2 | g.48687701C>T | CA346742747 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2096G>A (p.Cys699Tyr) c.*408G>A (n.*408G>A) c.3441+16021C>T (n.3441+16021C>T) c.*840G>A (n.*840G>A) c.2015G>A (p.Cys672Tyr) c.276+16021C>T (n.276+16021C>T) c.*220+6523G>A (n.*220+6523G>A) c.1139G>A (p.Cys380Tyr) c.1166G>A (p.Cys389Tyr) c.2021G>A (p.Cys674Tyr) c.1835G>A (p.Cys612Tyr) c.1754G>A (p.Cys585Tyr) c.1460G>A (p.Cys487Tyr) c.1841G>A (p.Cys614Tyr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687702A= | CA1248600799 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2095T= (p.Cys699=) c.*407T= (n.*407T=) c.3441+16022A= (n.3441+16022A=) c.*839T= (n.*839T=) c.2014T= (p.Cys672=) c.276+16022A= (n.276+16022A=) c.*220+6522T= (n.*220+6522T=) c.1138T= (p.Cys380=) c.1165T= (p.Cys389=) c.2020T= (p.Cys674=) c.1834T= (p.Cys612=) c.1753T= (p.Cys585=) c.1459T= (p.Cys487=) c.1840T= (p.Cys614=) | |
2 | g.48687702A>C | CA346742756 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2095T>G (p.Cys699Gly) c.*407T>G (n.*407T>G) c.3441+16022A>C (n.3441+16022A>C) c.*839T>G (n.*839T>G) c.2014T>G (p.Cys672Gly) c.276+16022A>C (n.276+16022A>C) c.*220+6522T>G (n.*220+6522T>G) c.1138T>G (p.Cys380Gly) c.1165T>G (p.Cys389Gly) c.2020T>G (p.Cys674Gly) c.1834T>G (p.Cys612Gly) c.1753T>G (p.Cys585Gly) c.1459T>G (p.Cys487Gly) c.1840T>G (p.Cys614Gly) | |
2 | g.48687702A>G | CA346742754 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2095T>C (p.Cys699Arg) c.*407T>C (n.*407T>C) c.3441+16022A>G (n.3441+16022A>G) c.*839T>C (n.*839T>C) c.2014T>C (p.Cys672Arg) c.276+16022A>G (n.276+16022A>G) c.*220+6522T>C (n.*220+6522T>C) c.1138T>C (p.Cys380Arg) c.1165T>C (p.Cys389Arg) c.2020T>C (p.Cys674Arg) c.1834T>C (p.Cys612Arg) c.1753T>C (p.Cys585Arg) c.1459T>C (p.Cys487Arg) c.1840T>C (p.Cys614Arg) | |
2 | g.48687702A>T | CA1652927 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2095T>A (p.Cys699Ser) c.*407T>A (n.*407T>A) c.3441+16022A>T (n.3441+16022A>T) c.*839T>A (n.*839T>A) c.2014T>A (p.Cys672Ser) c.276+16022A>T (n.276+16022A>T) c.*220+6522T>A (n.*220+6522T>A) c.1138T>A (p.Cys380Ser) c.1165T>A (p.Cys389Ser) c.2020T>A (p.Cys674Ser) c.1834T>A (p.Cys612Ser) c.1753T>A (p.Cys585Ser) c.1459T>A (p.Cys487Ser) c.1840T>A (p.Cys614Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687703C>A | CA346742759 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2094G>T (p.Glu698Asp) c.*406G>T (n.*406G>T) c.3441+16023C>A (n.3441+16023C>A) c.*838G>T (n.*838G>T) c.2013G>T (p.Glu671Asp) c.276+16023C>A (n.276+16023C>A) c.*220+6521G>T (n.*220+6521G>T) c.1137G>T (p.Glu379Asp) c.1164G>T (p.Glu388Asp) c.2019G>T (p.Glu673Asp) c.1833G>T (p.Glu611Asp) c.1752G>T (p.Glu584Asp) c.1458G>T (p.Glu486Asp) c.1839G>T (p.Glu613Asp) | |
2 | g.48687703C= | CA1248600800 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2094G= (p.Glu698=) c.*406G= (n.*406G=) c.3441+16023C= (n.3441+16023C=) c.*838G= (n.*838G=) c.2013G= (p.Glu671=) c.276+16023C= (n.276+16023C=) c.*220+6521G= (n.*220+6521G=) c.1137G= (p.Glu379=) c.1164G= (p.Glu388=) c.2019G= (p.Glu673=) c.1833G= (p.Glu611=) c.1752G= (p.Glu584=) c.1458G= (p.Glu486=) c.1839G= (p.Glu613=) | |
2 | g.48687703C>G | CA46752380 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2094G>C (p.Glu698Asp) c.*406G>C (n.*406G>C) c.3441+16023C>G (n.3441+16023C>G) c.*838G>C (n.*838G>C) c.2013G>C (p.Glu671Asp) c.276+16023C>G (n.276+16023C>G) c.*220+6521G>C (n.*220+6521G>C) c.1137G>C (p.Glu379Asp) c.1164G>C (p.Glu388Asp) c.2019G>C (p.Glu673Asp) c.1833G>C (p.Glu611Asp) c.1752G>C (p.Glu584Asp) c.1458G>C (p.Glu486Asp) c.1839G>C (p.Glu613Asp) | dbSNP gnomAD v4 |
2 | g.48687703C>T | CA426124444 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2094G>A (p.Glu698=) c.*406G>A (n.*406G>A) c.3441+16023C>T (n.3441+16023C>T) c.*838G>A (n.*838G>A) c.2013G>A (p.Glu671=) c.276+16023C>T (n.276+16023C>T) c.*220+6521G>A (n.*220+6521G>A) c.1137G>A (p.Glu379=) c.1164G>A (p.Glu388=) c.2019G>A (p.Glu673=) c.1833G>A (p.Glu611=) c.1752G>A (p.Glu584=) c.1458G>A (p.Glu486=) c.1839G>A (p.Glu613=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687705_48687706del | CA2658992076 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2093_2094del (p.Glu698ValfsTer15) c.*405_*406del (n.*405_*406del) c.3441+16025_3441+16026del (n.3441+16025_3441+16026del) c.*837_*838del (n.*837_*838del) c.2012_2013del (p.Glu671ValfsTer15) c.276+16025_276+16026del (n.276+16025_276+16026del) c.*220+6520_*220+6521del (n.*220+6520_*220+6521del) c.1136_1137del (p.Glu379ValfsTer15) c.1163_1164del (p.Glu388ValfsTer15) c.2018_2019del (p.Glu673ValfsTer15) c.1832_1833del (p.Glu611ValfsTer15) c.1751_1752del (p.Glu584ValfsTer15) c.1457_1458del (p.Glu486ValfsTer15) c.1838_1839del (p.Glu613ValfsTer15) | gnomAD v4 |
2 | g.48687704T>A | CA346742763 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2093A>T (p.Glu698Val) c.*405A>T (n.*405A>T) c.3441+16024T>A (n.3441+16024T>A) c.*837A>T (n.*837A>T) c.2012A>T (p.Glu671Val) c.276+16024T>A (n.276+16024T>A) c.*220+6520A>T (n.*220+6520A>T) c.1136A>T (p.Glu379Val) c.1163A>T (p.Glu388Val) c.2018A>T (p.Glu673Val) c.1832A>T (p.Glu611Val) c.1751A>T (p.Glu584Val) c.1457A>T (p.Glu486Val) c.1838A>T (p.Glu613Val) | |
2 | g.48687704T>C | CA346742766 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2093A>G (p.Glu698Gly) c.*405A>G (n.*405A>G) c.3441+16024T>C (n.3441+16024T>C) c.*837A>G (n.*837A>G) c.2012A>G (p.Glu671Gly) c.276+16024T>C (n.276+16024T>C) c.*220+6520A>G (n.*220+6520A>G) c.1136A>G (p.Glu379Gly) c.1163A>G (p.Glu388Gly) c.2018A>G (p.Glu673Gly) c.1832A>G (p.Glu611Gly) c.1751A>G (p.Glu584Gly) c.1457A>G (p.Glu486Gly) c.1838A>G (p.Glu613Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687704T>G | CA346742770 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2093A>C (p.Glu698Ala) c.*405A>C (n.*405A>C) c.3441+16024T>G (n.3441+16024T>G) c.*837A>C (n.*837A>C) c.2012A>C (p.Glu671Ala) c.276+16024T>G (n.276+16024T>G) c.*220+6520A>C (n.*220+6520A>C) c.1136A>C (p.Glu379Ala) c.1163A>C (p.Glu388Ala) c.2018A>C (p.Glu673Ala) c.1832A>C (p.Glu611Ala) c.1751A>C (p.Glu584Ala) c.1457A>C (p.Glu486Ala) c.1838A>C (p.Glu613Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687704T= | CA1248600801 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2093A= (p.Glu698=) c.*405A= (n.*405A=) c.3441+16024T= (n.3441+16024T=) c.*837A= (n.*837A=) c.2012A= (p.Glu671=) c.276+16024T= (n.276+16024T=) c.*220+6520A= (n.*220+6520A=) c.1136A= (p.Glu379=) c.1163A= (p.Glu388=) c.2018A= (p.Glu673=) c.1832A= (p.Glu611=) c.1751A= (p.Glu584=) c.1457A= (p.Glu486=) c.1838A= (p.Glu613=) | |
2 | g.48687705C>A | CA346742773 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2092G>T (p.Glu698Ter) c.*404G>T (n.*404G>T) c.3441+16025C>A (n.3441+16025C>A) c.*836G>T (n.*836G>T) c.2011G>T (p.Glu671Ter) c.276+16025C>A (n.276+16025C>A) c.*220+6519G>T (n.*220+6519G>T) c.1135G>T (p.Glu379Ter) c.1162G>T (p.Glu388Ter) c.2017G>T (p.Glu673Ter) c.1831G>T (p.Glu611Ter) c.1750G>T (p.Glu584Ter) c.1456G>T (p.Glu486Ter) c.1837G>T (p.Glu613Ter) | |
2 | g.48687705C= | CA1248600802 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2092G= (p.Glu698=) c.*404G= (n.*404G=) c.3441+16025C= (n.3441+16025C=) c.*836G= (n.*836G=) c.2011G= (p.Glu671=) c.276+16025C= (n.276+16025C=) c.*220+6519G= (n.*220+6519G=) c.1135G= (p.Glu379=) c.1162G= (p.Glu388=) c.2017G= (p.Glu673=) c.1831G= (p.Glu611=) c.1750G= (p.Glu584=) c.1456G= (p.Glu486=) c.1837G= (p.Glu613=) | |
2 | g.48687705C>G | CA1652928 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2092G>C (p.Glu698Gln) c.*404G>C (n.*404G>C) c.3441+16025C>G (n.3441+16025C>G) c.*836G>C (n.*836G>C) c.2011G>C (p.Glu671Gln) c.276+16025C>G (n.276+16025C>G) c.*220+6519G>C (n.*220+6519G>C) c.1135G>C (p.Glu379Gln) c.1162G>C (p.Glu388Gln) c.2017G>C (p.Glu673Gln) c.1831G>C (p.Glu611Gln) c.1750G>C (p.Glu584Gln) c.1456G>C (p.Glu486Gln) c.1837G>C (p.Glu613Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687705C>T | CA346742776 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2092G>A (p.Glu698Lys) c.*404G>A (n.*404G>A) c.3441+16025C>T (n.3441+16025C>T) c.*836G>A (n.*836G>A) c.2011G>A (p.Glu671Lys) c.276+16025C>T (n.276+16025C>T) c.*220+6519G>A (n.*220+6519G>A) c.1135G>A (p.Glu379Lys) c.1162G>A (p.Glu388Lys) c.2017G>A (p.Glu673Lys) c.1831G>A (p.Glu611Lys) c.1750G>A (p.Glu584Lys) c.1456G>A (p.Glu486Lys) c.1837G>A (p.Glu613Lys) | gnomAD v4 |
2 | g.48687706T>A | CA1652929 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2091A>T (p.Thr697=) c.*403A>T (n.*403A>T) c.3441+16026T>A (n.3441+16026T>A) c.*835A>T (n.*835A>T) c.2010A>T (p.Thr670=) c.276+16026T>A (n.276+16026T>A) c.*220+6518A>T (n.*220+6518A>T) c.1134A>T (p.Thr378=) c.1161A>T (p.Thr387=) c.2016A>T (p.Thr672=) c.1830A>T (p.Thr610=) c.1749A>T (p.Thr583=) c.1455A>T (p.Thr485=) c.1836A>T (p.Thr612=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687706T>C | CA426124445 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2091A>G (p.Thr697=) c.*403A>G (n.*403A>G) c.3441+16026T>C (n.3441+16026T>C) c.*835A>G (n.*835A>G) c.2010A>G (p.Thr670=) c.276+16026T>C (n.276+16026T>C) c.*220+6518A>G (n.*220+6518A>G) c.1134A>G (p.Thr378=) c.1161A>G (p.Thr387=) c.2016A>G (p.Thr672=) c.1830A>G (p.Thr610=) c.1749A>G (p.Thr583=) c.1455A>G (p.Thr485=) c.1836A>G (p.Thr612=) | |
2 | g.48687706T>G | CA1652930 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2091A>C (p.Thr697=) c.*403A>C (n.*403A>C) c.3441+16026T>G (n.3441+16026T>G) c.*835A>C (n.*835A>C) c.2010A>C (p.Thr670=) c.276+16026T>G (n.276+16026T>G) c.*220+6518A>C (n.*220+6518A>C) c.1134A>C (p.Thr378=) c.1161A>C (p.Thr387=) c.2016A>C (p.Thr672=) c.1830A>C (p.Thr610=) c.1749A>C (p.Thr583=) c.1455A>C (p.Thr485=) c.1836A>C (p.Thr612=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687706T= | CA1248600803 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2091A= (p.Thr697=) c.*403A= (n.*403A=) c.3441+16026T= (n.3441+16026T=) c.*835A= (n.*835A=) c.2010A= (p.Thr670=) c.276+16026T= (n.276+16026T=) c.*220+6518A= (n.*220+6518A=) c.1134A= (p.Thr378=) c.1161A= (p.Thr387=) c.2016A= (p.Thr672=) c.1830A= (p.Thr610=) c.1749A= (p.Thr583=) c.1455A= (p.Thr485=) c.1836A= (p.Thr612=) | |
2 | g.48687709_48687710del | CA2658992077 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2090_2091del (p.Thr697ArgfsTer16) c.*402_*403del (n.*402_*403del) c.3441+16029_3441+16030del (n.3441+16029_3441+16030del) c.*834_*835del (n.*834_*835del) c.2009_2010del (p.Thr670ArgfsTer16) c.276+16029_276+16030del (n.276+16029_276+16030del) c.*220+6517_*220+6518del (n.*220+6517_*220+6518del) c.1133_1134del (p.Thr378ArgfsTer16) c.1160_1161del (p.Thr387ArgfsTer16) c.2015_2016del (p.Thr672ArgfsTer16) c.1829_1830del (p.Thr610ArgfsTer16) c.1748_1749del (p.Thr583ArgfsTer16) c.1454_1455del (p.Thr485ArgfsTer16) c.1835_1836del (p.Thr612ArgfsTer16) | gnomAD v4 |
2 | g.48687707G>A | CA346742782 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2090C>T (p.Thr697Ile) c.*402C>T (n.*402C>T) c.3441+16027G>A (n.3441+16027G>A) c.*834C>T (n.*834C>T) c.2009C>T (p.Thr670Ile) c.276+16027G>A (n.276+16027G>A) c.*220+6517C>T (n.*220+6517C>T) c.1133C>T (p.Thr378Ile) c.1160C>T (p.Thr387Ile) c.2015C>T (p.Thr672Ile) c.1829C>T (p.Thr610Ile) c.1748C>T (p.Thr583Ile) c.1454C>T (p.Thr485Ile) c.1835C>T (p.Thr612Ile) | |
2 | g.48687707G>C | CA346742783 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2090C>G (p.Thr697Arg) c.*402C>G (n.*402C>G) c.3441+16027G>C (n.3441+16027G>C) c.*834C>G (n.*834C>G) c.2009C>G (p.Thr670Arg) c.276+16027G>C (n.276+16027G>C) c.*220+6517C>G (n.*220+6517C>G) c.1133C>G (p.Thr378Arg) c.1160C>G (p.Thr387Arg) c.2015C>G (p.Thr672Arg) c.1829C>G (p.Thr610Arg) c.1748C>G (p.Thr583Arg) c.1454C>G (p.Thr485Arg) c.1835C>G (p.Thr612Arg) | gnomAD v4 |
2 | g.48687707G>T | CA346742785 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2090C>A (p.Thr697Lys) c.*402C>A (n.*402C>A) c.3441+16027G>T (n.3441+16027G>T) c.*834C>A (n.*834C>A) c.2009C>A (p.Thr670Lys) c.276+16027G>T (n.276+16027G>T) c.*220+6517C>A (n.*220+6517C>A) c.1133C>A (p.Thr378Lys) c.1160C>A (p.Thr387Lys) c.2015C>A (p.Thr672Lys) c.1829C>A (p.Thr610Lys) c.1748C>A (p.Thr583Lys) c.1454C>A (p.Thr485Lys) c.1835C>A (p.Thr612Lys) | |
2 | g.48687708T>A | CA346742788 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2089A>T (p.Thr697Ser) c.*401A>T (n.*401A>T) c.3441+16028T>A (n.3441+16028T>A) c.*833A>T (n.*833A>T) c.2008A>T (p.Thr670Ser) c.276+16028T>A (n.276+16028T>A) c.*220+6516A>T (n.*220+6516A>T) c.1132A>T (p.Thr378Ser) c.1159A>T (p.Thr387Ser) c.2014A>T (p.Thr672Ser) c.1828A>T (p.Thr610Ser) c.1747A>T (p.Thr583Ser) c.1453A>T (p.Thr485Ser) c.1834A>T (p.Thr612Ser) | |
2 | g.48687708T>C | CA346742792 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2089A>G (p.Thr697Ala) c.*401A>G (n.*401A>G) c.3441+16028T>C (n.3441+16028T>C) c.*833A>G (n.*833A>G) c.2008A>G (p.Thr670Ala) c.276+16028T>C (n.276+16028T>C) c.*220+6516A>G (n.*220+6516A>G) c.1132A>G (p.Thr378Ala) c.1159A>G (p.Thr387Ala) c.2014A>G (p.Thr672Ala) c.1828A>G (p.Thr610Ala) c.1747A>G (p.Thr583Ala) c.1453A>G (p.Thr485Ala) c.1834A>G (p.Thr612Ala) | |
2 | g.48687708T>G | CA346742791 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2089A>C (p.Thr697Pro) c.*401A>C (n.*401A>C) c.3441+16028T>G (n.3441+16028T>G) c.*833A>C (n.*833A>C) c.2008A>C (p.Thr670Pro) c.276+16028T>G (n.276+16028T>G) c.*220+6516A>C (n.*220+6516A>C) c.1132A>C (p.Thr378Pro) c.1159A>C (p.Thr387Pro) c.2014A>C (p.Thr672Pro) c.1828A>C (p.Thr610Pro) c.1747A>C (p.Thr583Pro) c.1453A>C (p.Thr485Pro) c.1834A>C (p.Thr612Pro) | |
2 | g.48687709G>A | CA426124447 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2088C>T (p.Tyr696=) c.*400C>T (n.*400C>T) c.3441+16029G>A (n.3441+16029G>A) c.*832C>T (n.*832C>T) c.2007C>T (p.Tyr669=) c.276+16029G>A (n.276+16029G>A) c.*220+6515C>T (n.*220+6515C>T) c.1131C>T (p.Tyr377=) c.1158C>T (p.Tyr386=) c.2013C>T (p.Tyr671=) c.1827C>T (p.Tyr609=) c.1746C>T (p.Tyr582=) c.1452C>T (p.Tyr484=) c.1833C>T (p.Tyr611=) | |
2 | g.48687709G>C | CA346742793 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2088C>G (p.Tyr696Ter) c.*400C>G (n.*400C>G) c.3441+16029G>C (n.3441+16029G>C) c.*832C>G (n.*832C>G) c.2007C>G (p.Tyr669Ter) c.276+16029G>C (n.276+16029G>C) c.*220+6515C>G (n.*220+6515C>G) c.1131C>G (p.Tyr377Ter) c.1158C>G (p.Tyr386Ter) c.2013C>G (p.Tyr671Ter) c.1827C>G (p.Tyr609Ter) c.1746C>G (p.Tyr582Ter) c.1452C>G (p.Tyr484Ter) c.1833C>G (p.Tyr611Ter) | |
2 | g.48687709G>T | CA346742794 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2088C>A (p.Tyr696Ter) c.*400C>A (n.*400C>A) c.3441+16029G>T (n.3441+16029G>T) c.*832C>A (n.*832C>A) c.2007C>A (p.Tyr669Ter) c.276+16029G>T (n.276+16029G>T) c.*220+6515C>A (n.*220+6515C>A) c.1131C>A (p.Tyr377Ter) c.1158C>A (p.Tyr386Ter) c.2013C>A (p.Tyr671Ter) c.1827C>A (p.Tyr609Ter) c.1746C>A (p.Tyr582Ter) c.1452C>A (p.Tyr484Ter) c.1833C>A (p.Tyr611Ter) | |
2 | g.48687710T>A | CA346742795 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2087A>T (p.Tyr696Phe) c.*399A>T (n.*399A>T) c.3441+16030T>A (n.3441+16030T>A) c.*831A>T (n.*831A>T) c.2006A>T (p.Tyr669Phe) c.276+16030T>A (n.276+16030T>A) c.*220+6514A>T (n.*220+6514A>T) c.1130A>T (p.Tyr377Phe) c.1157A>T (p.Tyr386Phe) c.2012A>T (p.Tyr671Phe) c.1826A>T (p.Tyr609Phe) c.1745A>T (p.Tyr582Phe) c.1451A>T (p.Tyr484Phe) c.1832A>T (p.Tyr611Phe) | |
2 | g.48687710T>C | CA346742796 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2087A>G (p.Tyr696Cys) c.*399A>G (n.*399A>G) c.3441+16030T>C (n.3441+16030T>C) c.*831A>G (n.*831A>G) c.2006A>G (p.Tyr669Cys) c.276+16030T>C (n.276+16030T>C) c.*220+6514A>G (n.*220+6514A>G) c.1130A>G (p.Tyr377Cys) c.1157A>G (p.Tyr386Cys) c.2012A>G (p.Tyr671Cys) c.1826A>G (p.Tyr609Cys) c.1745A>G (p.Tyr582Cys) c.1451A>G (p.Tyr484Cys) c.1832A>G (p.Tyr611Cys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687710T>G | CA346742798 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2087A>C (p.Tyr696Ser) c.*399A>C (n.*399A>C) c.3441+16030T>G (n.3441+16030T>G) c.*831A>C (n.*831A>C) c.2006A>C (p.Tyr669Ser) c.276+16030T>G (n.276+16030T>G) c.*220+6514A>C (n.*220+6514A>C) c.1130A>C (p.Tyr377Ser) c.1157A>C (p.Tyr386Ser) c.2012A>C (p.Tyr671Ser) c.1826A>C (p.Tyr609Ser) c.1745A>C (p.Tyr582Ser) c.1451A>C (p.Tyr484Ser) c.1832A>C (p.Tyr611Ser) | |
2 | g.48687710T= | CA1248600804 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2087A= (p.Tyr696=) c.*399A= (n.*399A=) c.3441+16030T= (n.3441+16030T=) c.*831A= (n.*831A=) c.2006A= (p.Tyr669=) c.276+16030T= (n.276+16030T=) c.*220+6514A= (n.*220+6514A=) c.1130A= (p.Tyr377=) c.1157A= (p.Tyr386=) c.2012A= (p.Tyr671=) c.1826A= (p.Tyr609=) c.1745A= (p.Tyr582=) c.1451A= (p.Tyr484=) c.1832A= (p.Tyr611=) | |
2 | g.48687711A= | CA1248600805 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2086T= (p.Tyr696=) c.*398T= (n.*398T=) c.3441+16031A= (n.3441+16031A=) c.*830T= (n.*830T=) c.2005T= (p.Tyr669=) c.276+16031A= (n.276+16031A=) c.*220+6513T= (n.*220+6513T=) c.1129T= (p.Tyr377=) c.1156T= (p.Tyr386=) c.2011T= (p.Tyr671=) c.1825T= (p.Tyr609=) c.1744T= (p.Tyr582=) c.1450T= (p.Tyr484=) c.1831T= (p.Tyr611=) | |
2 | g.48687711A>C | CA346742799 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2086T>G (p.Tyr696Asp) c.*398T>G (n.*398T>G) c.3441+16031A>C (n.3441+16031A>C) c.*830T>G (n.*830T>G) c.2005T>G (p.Tyr669Asp) c.276+16031A>C (n.276+16031A>C) c.*220+6513T>G (n.*220+6513T>G) c.1129T>G (p.Tyr377Asp) c.1156T>G (p.Tyr386Asp) c.2011T>G (p.Tyr671Asp) c.1825T>G (p.Tyr609Asp) c.1744T>G (p.Tyr582Asp) c.1450T>G (p.Tyr484Asp) c.1831T>G (p.Tyr611Asp) | |
2 | g.48687711A>G | CA1652931 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2086T>C (p.Tyr696His) c.*398T>C (n.*398T>C) c.3441+16031A>G (n.3441+16031A>G) c.*830T>C (n.*830T>C) c.2005T>C (p.Tyr669His) c.276+16031A>G (n.276+16031A>G) c.*220+6513T>C (n.*220+6513T>C) c.1129T>C (p.Tyr377His) c.1156T>C (p.Tyr386His) c.2011T>C (p.Tyr671His) c.1825T>C (p.Tyr609His) c.1744T>C (p.Tyr582His) c.1450T>C (p.Tyr484His) c.1831T>C (p.Tyr611His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687711A>T | CA346742806 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2086T>A (p.Tyr696Asn) c.*398T>A (n.*398T>A) c.3441+16031A>T (n.3441+16031A>T) c.*830T>A (n.*830T>A) c.2005T>A (p.Tyr669Asn) c.276+16031A>T (n.276+16031A>T) c.*220+6513T>A (n.*220+6513T>A) c.1129T>A (p.Tyr377Asn) c.1156T>A (p.Tyr386Asn) c.2011T>A (p.Tyr671Asn) c.1825T>A (p.Tyr609Asn) c.1744T>A (p.Tyr582Asn) c.1450T>A (p.Tyr484Asn) c.1831T>A (p.Tyr611Asn) | |
2 | g.48687712G>A | CA426124451 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2085C>T (p.Arg695=) c.*397C>T (n.*397C>T) c.3441+16032G>A (n.3441+16032G>A) c.*829C>T (n.*829C>T) c.2004C>T (p.Arg668=) c.276+16032G>A (n.276+16032G>A) c.*220+6512C>T (n.*220+6512C>T) c.1128C>T (p.Arg376=) c.1155C>T (p.Arg385=) c.2010C>T (p.Arg670=) c.1824C>T (p.Arg608=) c.1743C>T (p.Arg581=) c.1449C>T (p.Arg483=) c.1830C>T (p.Arg610=) | gnomAD v4 |
2 | g.48687712G>C | CA426124452 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2085C>G (p.Arg695=) c.*397C>G (n.*397C>G) c.3441+16032G>C (n.3441+16032G>C) c.*829C>G (n.*829C>G) c.2004C>G (p.Arg668=) c.276+16032G>C (n.276+16032G>C) c.*220+6512C>G (n.*220+6512C>G) c.1128C>G (p.Arg376=) c.1155C>G (p.Arg385=) c.2010C>G (p.Arg670=) c.1824C>G (p.Arg608=) c.1743C>G (p.Arg581=) c.1449C>G (p.Arg483=) c.1830C>G (p.Arg610=) | |
2 | g.48687712G>T | CA426124453 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2085C>A (p.Arg695=) c.*397C>A (n.*397C>A) c.3441+16032G>T (n.3441+16032G>T) c.*829C>A (n.*829C>A) c.2004C>A (p.Arg668=) c.276+16032G>T (n.276+16032G>T) c.*220+6512C>A (n.*220+6512C>A) c.1128C>A (p.Arg376=) c.1155C>A (p.Arg385=) c.2010C>A (p.Arg670=) c.1824C>A (p.Arg608=) c.1743C>A (p.Arg581=) c.1449C>A (p.Arg483=) c.1830C>A (p.Arg610=) | |
2 | g.48687713C>A | CA346742808 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2084G>T (p.Arg695Leu) c.*396G>T (n.*396G>T) c.3441+16033C>A (n.3441+16033C>A) c.*828G>T (n.*828G>T) c.2003G>T (p.Arg668Leu) c.276+16033C>A (n.276+16033C>A) c.*220+6511G>T (n.*220+6511G>T) c.1127G>T (p.Arg376Leu) c.1154G>T (p.Arg385Leu) c.2009G>T (p.Arg670Leu) c.1823G>T (p.Arg608Leu) c.1742G>T (p.Arg581Leu) c.1448G>T (p.Arg483Leu) c.1829G>T (p.Arg610Leu) | |
2 | g.48687713C= | CA1248600806 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2084G= (p.Arg695=) c.*396G= (n.*396G=) c.3441+16033C= (n.3441+16033C=) c.*828G= (n.*828G=) c.2003G= (p.Arg668=) c.276+16033C= (n.276+16033C=) c.*220+6511G= (n.*220+6511G=) c.1127G= (p.Arg376=) c.1154G= (p.Arg385=) c.2009G= (p.Arg670=) c.1823G= (p.Arg608=) c.1742G= (p.Arg581=) c.1448G= (p.Arg483=) c.1829G= (p.Arg610=) | |
2 | g.48687713C>G | CA346742810 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2084G>C (p.Arg695Pro) c.*396G>C (n.*396G>C) c.3441+16033C>G (n.3441+16033C>G) c.*828G>C (n.*828G>C) c.2003G>C (p.Arg668Pro) c.276+16033C>G (n.276+16033C>G) c.*220+6511G>C (n.*220+6511G>C) c.1127G>C (p.Arg376Pro) c.1154G>C (p.Arg385Pro) c.2009G>C (p.Arg670Pro) c.1823G>C (p.Arg608Pro) c.1742G>C (p.Arg581Pro) c.1448G>C (p.Arg483Pro) c.1829G>C (p.Arg610Pro) | |
2 | g.48687713C>T | CA1652932 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2084G>A (p.Arg695His) c.*396G>A (n.*396G>A) c.3441+16033C>T (n.3441+16033C>T) c.*828G>A (n.*828G>A) c.2003G>A (p.Arg668His) c.276+16033C>T (n.276+16033C>T) c.*220+6511G>A (n.*220+6511G>A) c.1127G>A (p.Arg376His) c.1154G>A (p.Arg385His) c.2009G>A (p.Arg670His) c.1823G>A (p.Arg608His) c.1742G>A (p.Arg581His) c.1448G>A (p.Arg483His) c.1829G>A (p.Arg610His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687714G>A | CA1652933 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2083C>T (p.Arg695Cys) c.*395C>T (n.*395C>T) c.3441+16034G>A (n.3441+16034G>A) c.*827C>T (n.*827C>T) c.2002C>T (p.Arg668Cys) c.276+16034G>A (n.276+16034G>A) c.*220+6510C>T (n.*220+6510C>T) c.1126C>T (p.Arg376Cys) c.1153C>T (p.Arg385Cys) c.2008C>T (p.Arg670Cys) c.1822C>T (p.Arg608Cys) c.1741C>T (p.Arg581Cys) c.1447C>T (p.Arg483Cys) c.1828C>T (p.Arg610Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.48687714G>C | CA346742818 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2083C>G (p.Arg695Gly) c.*395C>G (n.*395C>G) c.3441+16034G>C (n.3441+16034G>C) c.*827C>G (n.*827C>G) c.2002C>G (p.Arg668Gly) c.276+16034G>C (n.276+16034G>C) c.*220+6510C>G (n.*220+6510C>G) c.1126C>G (p.Arg376Gly) c.1153C>G (p.Arg385Gly) c.2008C>G (p.Arg670Gly) c.1822C>G (p.Arg608Gly) c.1741C>G (p.Arg581Gly) c.1447C>G (p.Arg483Gly) c.1828C>G (p.Arg610Gly) | gnomAD v4 |
2 | g.48687714G= | CA1248600807 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2083C= (p.Arg695=) c.*395C= (n.*395C=) c.3441+16034G= (n.3441+16034G=) c.*827C= (n.*827C=) c.2002C= (p.Arg668=) c.276+16034G= (n.276+16034G=) c.*220+6510C= (n.*220+6510C=) c.1126C= (p.Arg376=) c.1153C= (p.Arg385=) c.2008C= (p.Arg670=) c.1822C= (p.Arg608=) c.1741C= (p.Arg581=) c.1447C= (p.Arg483=) c.1828C= (p.Arg610=) | |
2 | g.48687714G>T | CA346742815 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2083C>A (p.Arg695Ser) c.*395C>A (n.*395C>A) c.3441+16034G>T (n.3441+16034G>T) c.*827C>A (n.*827C>A) c.2002C>A (p.Arg668Ser) c.276+16034G>T (n.276+16034G>T) c.*220+6510C>A (n.*220+6510C>A) c.1126C>A (p.Arg376Ser) c.1153C>A (p.Arg385Ser) c.2008C>A (p.Arg670Ser) c.1822C>A (p.Arg608Ser) c.1741C>A (p.Arg581Ser) c.1447C>A (p.Arg483Ser) c.1828C>A (p.Arg610Ser) | gnomAD v4 |
2 | g.48687715A>C | CA426124458 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2082T>G (p.Thr694=) c.*394T>G (n.*394T>G) c.3441+16035A>C (n.3441+16035A>C) c.*826T>G (n.*826T>G) c.2001T>G (p.Thr667=) c.276+16035A>C (n.276+16035A>C) c.*220+6509T>G (n.*220+6509T>G) c.1125T>G (p.Thr375=) c.1152T>G (p.Thr384=) c.2007T>G (p.Thr669=) c.1821T>G (p.Thr607=) c.1740T>G (p.Thr580=) c.1446T>G (p.Thr482=) c.1827T>G (p.Thr609=) | COSMIC |
2 | g.48687715A>G | CA426124459 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2082T>C (p.Thr694=) c.*394T>C (n.*394T>C) c.3441+16035A>G (n.3441+16035A>G) c.*826T>C (n.*826T>C) c.2001T>C (p.Thr667=) c.276+16035A>G (n.276+16035A>G) c.*220+6509T>C (n.*220+6509T>C) c.1125T>C (p.Thr375=) c.1152T>C (p.Thr384=) c.2007T>C (p.Thr669=) c.1821T>C (p.Thr607=) c.1740T>C (p.Thr580=) c.1446T>C (p.Thr482=) c.1827T>C (p.Thr609=) | |
2 | g.48687715A>T | CA426124457 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2082T>A (p.Thr694=) c.*394T>A (n.*394T>A) c.3441+16035A>T (n.3441+16035A>T) c.*826T>A (n.*826T>A) c.2001T>A (p.Thr667=) c.276+16035A>T (n.276+16035A>T) c.*220+6509T>A (n.*220+6509T>A) c.1125T>A (p.Thr375=) c.1152T>A (p.Thr384=) c.2007T>A (p.Thr669=) c.1821T>A (p.Thr607=) c.1740T>A (p.Thr580=) c.1446T>A (p.Thr482=) c.1827T>A (p.Thr609=) | gnomAD v4 |
2 | g.48687716G>A | CA346742825 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2081C>T (p.Thr694Ile) c.*393C>T (n.*393C>T) c.3441+16036G>A (n.3441+16036G>A) c.*825C>T (n.*825C>T) c.2000C>T (p.Thr667Ile) c.276+16036G>A (n.276+16036G>A) c.*220+6508C>T (n.*220+6508C>T) c.1124C>T (p.Thr375Ile) c.1151C>T (p.Thr384Ile) c.2006C>T (p.Thr669Ile) c.1820C>T (p.Thr607Ile) c.1739C>T (p.Thr580Ile) c.1445C>T (p.Thr482Ile) c.1826C>T (p.Thr609Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687716G>C | CA346742822 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2081C>G (p.Thr694Ser) c.*393C>G (n.*393C>G) c.3441+16036G>C (n.3441+16036G>C) c.*825C>G (n.*825C>G) c.2000C>G (p.Thr667Ser) c.276+16036G>C (n.276+16036G>C) c.*220+6508C>G (n.*220+6508C>G) c.1124C>G (p.Thr375Ser) c.1151C>G (p.Thr384Ser) c.2006C>G (p.Thr669Ser) c.1820C>G (p.Thr607Ser) c.1739C>G (p.Thr580Ser) c.1445C>G (p.Thr482Ser) c.1826C>G (p.Thr609Ser) | |
2 | g.48687716G= | CA1248600808 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2081C= (p.Thr694=) c.*393C= (n.*393C=) c.3441+16036G= (n.3441+16036G=) c.*825C= (n.*825C=) c.2000C= (p.Thr667=) c.276+16036G= (n.276+16036G=) c.*220+6508C= (n.*220+6508C=) c.1124C= (p.Thr375=) c.1151C= (p.Thr384=) c.2006C= (p.Thr669=) c.1820C= (p.Thr607=) c.1739C= (p.Thr580=) c.1445C= (p.Thr482=) c.1826C= (p.Thr609=) | |
2 | g.48687716G>T | CA346742824 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2081C>A (p.Thr694Asn) c.*393C>A (n.*393C>A) c.3441+16036G>T (n.3441+16036G>T) c.*825C>A (n.*825C>A) c.2000C>A (p.Thr667Asn) c.276+16036G>T (n.276+16036G>T) c.*220+6508C>A (n.*220+6508C>A) c.1124C>A (p.Thr375Asn) c.1151C>A (p.Thr384Asn) c.2006C>A (p.Thr669Asn) c.1820C>A (p.Thr607Asn) c.1739C>A (p.Thr580Asn) c.1445C>A (p.Thr482Asn) c.1826C>A (p.Thr609Asn) | |
2 | g.48687717T>A | CA346742828 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2080A>T (p.Thr694Ser) c.*392A>T (n.*392A>T) c.3441+16037T>A (n.3441+16037T>A) c.*824A>T (n.*824A>T) c.1999A>T (p.Thr667Ser) c.276+16037T>A (n.276+16037T>A) c.*220+6507A>T (n.*220+6507A>T) c.1123A>T (p.Thr375Ser) c.1150A>T (p.Thr384Ser) c.2005A>T (p.Thr669Ser) c.1819A>T (p.Thr607Ser) c.1738A>T (p.Thr580Ser) c.1444A>T (p.Thr482Ser) c.1825A>T (p.Thr609Ser) | |
2 | g.48687717T>C | CA346742833 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2080A>G (p.Thr694Ala) c.*392A>G (n.*392A>G) c.3441+16037T>C (n.3441+16037T>C) c.*824A>G (n.*824A>G) c.1999A>G (p.Thr667Ala) c.276+16037T>C (n.276+16037T>C) c.*220+6507A>G (n.*220+6507A>G) c.1123A>G (p.Thr375Ala) c.1150A>G (p.Thr384Ala) c.2005A>G (p.Thr669Ala) c.1819A>G (p.Thr607Ala) c.1738A>G (p.Thr580Ala) c.1444A>G (p.Thr482Ala) c.1825A>G (p.Thr609Ala) | gnomAD v4 |
2 | g.48687717T>G | CA346742834 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2080A>C (p.Thr694Pro) c.*392A>C (n.*392A>C) c.3441+16037T>G (n.3441+16037T>G) c.*824A>C (n.*824A>C) c.1999A>C (p.Thr667Pro) c.276+16037T>G (n.276+16037T>G) c.*220+6507A>C (n.*220+6507A>C) c.1123A>C (p.Thr375Pro) c.1150A>C (p.Thr384Pro) c.2005A>C (p.Thr669Pro) c.1819A>C (p.Thr607Pro) c.1738A>C (p.Thr580Pro) c.1444A>C (p.Thr482Pro) c.1825A>C (p.Thr609Pro) | dbSNP |
2 | g.48687717T= | CA1248600809 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2080A= (p.Thr694=) c.*392A= (n.*392A=) c.3441+16037T= (n.3441+16037T=) c.*824A= (n.*824A=) c.1999A= (p.Thr667=) c.276+16037T= (n.276+16037T=) c.*220+6507A= (n.*220+6507A=) c.1123A= (p.Thr375=) c.1150A= (p.Thr384=) c.2005A= (p.Thr669=) c.1819A= (p.Thr607=) c.1738A= (p.Thr580=) c.1444A= (p.Thr482=) c.1825A= (p.Thr609=) | |
2 | g.48687718C>A | CA346742836 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2079G>T (p.Lys693Asn) c.*391G>T (n.*391G>T) c.3441+16038C>A (n.3441+16038C>A) c.*823G>T (n.*823G>T) c.1998G>T (p.Lys666Asn) c.276+16038C>A (n.276+16038C>A) c.*220+6506G>T (n.*220+6506G>T) c.1122G>T (p.Lys374Asn) c.1149G>T (p.Lys383Asn) c.2004G>T (p.Lys668Asn) c.1818G>T (p.Lys606Asn) c.1737G>T (p.Lys579Asn) c.1443G>T (p.Lys481Asn) c.1824G>T (p.Lys608Asn) | |
2 | g.48687718C= | CA1248600810 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2079G= (p.Lys693=) c.*391G= (n.*391G=) c.3441+16038C= (n.3441+16038C=) c.*823G= (n.*823G=) c.1998G= (p.Lys666=) c.276+16038C= (n.276+16038C=) c.*220+6506G= (n.*220+6506G=) c.1122G= (p.Lys374=) c.1149G= (p.Lys383=) c.2004G= (p.Lys668=) c.1818G= (p.Lys606=) c.1737G= (p.Lys579=) c.1443G= (p.Lys481=) c.1824G= (p.Lys608=) | |
2 | g.48687718C>G | CA1652934 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2079G>C (p.Lys693Asn) c.*391G>C (n.*391G>C) c.3441+16038C>G (n.3441+16038C>G) c.*823G>C (n.*823G>C) c.1998G>C (p.Lys666Asn) c.276+16038C>G (n.276+16038C>G) c.*220+6506G>C (n.*220+6506G>C) c.1122G>C (p.Lys374Asn) c.1149G>C (p.Lys383Asn) c.2004G>C (p.Lys668Asn) c.1818G>C (p.Lys606Asn) c.1737G>C (p.Lys579Asn) c.1443G>C (p.Lys481Asn) c.1824G>C (p.Lys608Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687718C>T | CA426124462 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2079G>A (p.Lys693=) c.*391G>A (n.*391G>A) c.3441+16038C>T (n.3441+16038C>T) c.*823G>A (n.*823G>A) c.1998G>A (p.Lys666=) c.276+16038C>T (n.276+16038C>T) c.*220+6506G>A (n.*220+6506G>A) c.1122G>A (p.Lys374=) c.1149G>A (p.Lys383=) c.2004G>A (p.Lys668=) c.1818G>A (p.Lys606=) c.1737G>A (p.Lys579=) c.1443G>A (p.Lys481=) c.1824G>A (p.Lys608=) | dbSNP |
2 | g.48687719T>A | CA346742847 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2078A>T (p.Lys693Met) c.*390A>T (n.*390A>T) c.3441+16039T>A (n.3441+16039T>A) c.*822A>T (n.*822A>T) c.1997A>T (p.Lys666Met) c.276+16039T>A (n.276+16039T>A) c.*220+6505A>T (n.*220+6505A>T) c.1121A>T (p.Lys374Met) c.1148A>T (p.Lys383Met) c.2003A>T (p.Lys668Met) c.1817A>T (p.Lys606Met) c.1736A>T (p.Lys579Met) c.1442A>T (p.Lys481Met) c.1823A>T (p.Lys608Met) | |
2 | g.48687719T>C | CA346742848 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2078A>G (p.Lys693Arg) c.*390A>G (n.*390A>G) c.3441+16039T>C (n.3441+16039T>C) c.*822A>G (n.*822A>G) c.1997A>G (p.Lys666Arg) c.276+16039T>C (n.276+16039T>C) c.*220+6505A>G (n.*220+6505A>G) c.1121A>G (p.Lys374Arg) c.1148A>G (p.Lys383Arg) c.2003A>G (p.Lys668Arg) c.1817A>G (p.Lys606Arg) c.1736A>G (p.Lys579Arg) c.1442A>G (p.Lys481Arg) c.1823A>G (p.Lys608Arg) | gnomAD v4 |
2 | g.48687719T>G | CA346742851 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2078A>C (p.Lys693Thr) c.*390A>C (n.*390A>C) c.3441+16039T>G (n.3441+16039T>G) c.*822A>C (n.*822A>C) c.1997A>C (p.Lys666Thr) c.276+16039T>G (n.276+16039T>G) c.*220+6505A>C (n.*220+6505A>C) c.1121A>C (p.Lys374Thr) c.1148A>C (p.Lys383Thr) c.2003A>C (p.Lys668Thr) c.1817A>C (p.Lys606Thr) c.1736A>C (p.Lys579Thr) c.1442A>C (p.Lys481Thr) c.1823A>C (p.Lys608Thr) | |
2 | g.48687720T>A | CA346742855 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2077A>T (p.Lys693Ter) c.*389A>T (n.*389A>T) c.3441+16040T>A (n.3441+16040T>A) c.*821A>T (n.*821A>T) c.1996A>T (p.Lys666Ter) c.276+16040T>A (n.276+16040T>A) c.*220+6504A>T (n.*220+6504A>T) c.1120A>T (p.Lys374Ter) c.1147A>T (p.Lys383Ter) c.2002A>T (p.Lys668Ter) c.1816A>T (p.Lys606Ter) c.1735A>T (p.Lys579Ter) c.1441A>T (p.Lys481Ter) c.1822A>T (p.Lys608Ter) | |
2 | g.48687720T>C | CA346742858 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2077A>G (p.Lys693Glu) c.*389A>G (n.*389A>G) c.3441+16040T>C (n.3441+16040T>C) c.*821A>G (n.*821A>G) c.1996A>G (p.Lys666Glu) c.276+16040T>C (n.276+16040T>C) c.*220+6504A>G (n.*220+6504A>G) c.1120A>G (p.Lys374Glu) c.1147A>G (p.Lys383Glu) c.2002A>G (p.Lys668Glu) c.1816A>G (p.Lys606Glu) c.1735A>G (p.Lys579Glu) c.1441A>G (p.Lys481Glu) c.1822A>G (p.Lys608Glu) | gnomAD v4 |
2 | g.48687720T>G | CA346742861 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2077A>C (p.Lys693Gln) c.*389A>C (n.*389A>C) c.3441+16040T>G (n.3441+16040T>G) c.*821A>C (n.*821A>C) c.1996A>C (p.Lys666Gln) c.276+16040T>G (n.276+16040T>G) c.*220+6504A>C (n.*220+6504A>C) c.1120A>C (p.Lys374Gln) c.1147A>C (p.Lys383Gln) c.2002A>C (p.Lys668Gln) c.1816A>C (p.Lys606Gln) c.1735A>C (p.Lys579Gln) c.1441A>C (p.Lys481Gln) c.1822A>C (p.Lys608Gln) | |
2 | g.48687721G>A | CA426124463 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2076C>T (p.Asp692=) c.*388C>T (n.*388C>T) c.3441+16041G>A (n.3441+16041G>A) c.*820C>T (n.*820C>T) c.1995C>T (p.Asp665=) c.276+16041G>A (n.276+16041G>A) c.*220+6503C>T (n.*220+6503C>T) c.1119C>T (p.Asp373=) c.1146C>T (p.Asp382=) c.2001C>T (p.Asp667=) c.1815C>T (p.Asp605=) c.1734C>T (p.Asp578=) c.1440C>T (p.Asp480=) c.1821C>T (p.Asp607=) | |
2 | g.48687721G>C | CA346742872 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2076C>G (p.Asp692Glu) c.*388C>G (n.*388C>G) c.3441+16041G>C (n.3441+16041G>C) c.*820C>G (n.*820C>G) c.1995C>G (p.Asp665Glu) c.276+16041G>C (n.276+16041G>C) c.*220+6503C>G (n.*220+6503C>G) c.1119C>G (p.Asp373Glu) c.1146C>G (p.Asp382Glu) c.2001C>G (p.Asp667Glu) c.1815C>G (p.Asp605Glu) c.1734C>G (p.Asp578Glu) c.1440C>G (p.Asp480Glu) c.1821C>G (p.Asp607Glu) | |
2 | g.48687721G>T | CA346742869 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2076C>A (p.Asp692Glu) c.*388C>A (n.*388C>A) c.3441+16041G>T (n.3441+16041G>T) c.*820C>A (n.*820C>A) c.1995C>A (p.Asp665Glu) c.276+16041G>T (n.276+16041G>T) c.*220+6503C>A (n.*220+6503C>A) c.1119C>A (p.Asp373Glu) c.1146C>A (p.Asp382Glu) c.2001C>A (p.Asp667Glu) c.1815C>A (p.Asp605Glu) c.1734C>A (p.Asp578Glu) c.1440C>A (p.Asp480Glu) c.1821C>A (p.Asp607Glu) | |
2 | g.48687722T>A | CA346742874 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2075A>T (p.Asp692Val) c.*387A>T (n.*387A>T) c.3441+16042T>A (n.3441+16042T>A) c.*819A>T (n.*819A>T) c.1994A>T (p.Asp665Val) c.276+16042T>A (n.276+16042T>A) c.*220+6502A>T (n.*220+6502A>T) c.1118A>T (p.Asp373Val) c.1145A>T (p.Asp382Val) c.2000A>T (p.Asp667Val) c.1814A>T (p.Asp605Val) c.1733A>T (p.Asp578Val) c.1439A>T (p.Asp480Val) c.1820A>T (p.Asp607Val) | |
2 | g.48687722T>C | CA346742876 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2075A>G (p.Asp692Gly) c.*387A>G (n.*387A>G) c.3441+16042T>C (n.3441+16042T>C) c.*819A>G (n.*819A>G) c.1994A>G (p.Asp665Gly) c.276+16042T>C (n.276+16042T>C) c.*220+6502A>G (n.*220+6502A>G) c.1118A>G (p.Asp373Gly) c.1145A>G (p.Asp382Gly) c.2000A>G (p.Asp667Gly) c.1814A>G (p.Asp605Gly) c.1733A>G (p.Asp578Gly) c.1439A>G (p.Asp480Gly) c.1820A>G (p.Asp607Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687722T>G | CA346742880 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2075A>C (p.Asp692Ala) c.*387A>C (n.*387A>C) c.3441+16042T>G (n.3441+16042T>G) c.*819A>C (n.*819A>C) c.1994A>C (p.Asp665Ala) c.276+16042T>G (n.276+16042T>G) c.*220+6502A>C (n.*220+6502A>C) c.1118A>C (p.Asp373Ala) c.1145A>C (p.Asp382Ala) c.2000A>C (p.Asp667Ala) c.1814A>C (p.Asp605Ala) c.1733A>C (p.Asp578Ala) c.1439A>C (p.Asp480Ala) c.1820A>C (p.Asp607Ala) | |
2 | g.48687722T= | CA1248600811 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2075A= (p.Asp692=) c.*387A= (n.*387A=) c.3441+16042T= (n.3441+16042T=) c.*819A= (n.*819A=) c.1994A= (p.Asp665=) c.276+16042T= (n.276+16042T=) c.*220+6502A= (n.*220+6502A=) c.1118A= (p.Asp373=) c.1145A= (p.Asp382=) c.2000A= (p.Asp667=) c.1814A= (p.Asp605=) c.1733A= (p.Asp578=) c.1439A= (p.Asp480=) c.1820A= (p.Asp607=) | |
2 | g.48687723C>A | CA346742883 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2074G>T (p.Asp692Tyr) c.*386G>T (n.*386G>T) c.3441+16043C>A (n.3441+16043C>A) c.*818G>T (n.*818G>T) c.1993G>T (p.Asp665Tyr) c.276+16043C>A (n.276+16043C>A) c.*220+6501G>T (n.*220+6501G>T) c.1117G>T (p.Asp373Tyr) c.1144G>T (p.Asp382Tyr) c.1999G>T (p.Asp667Tyr) c.1813G>T (p.Asp605Tyr) c.1732G>T (p.Asp578Tyr) c.1438G>T (p.Asp480Tyr) c.1819G>T (p.Asp607Tyr) | COSMIC |
2 | g.48687723C= | CA1248600812 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2074G= (p.Asp692=) c.*386G= (n.*386G=) c.3441+16043C= (n.3441+16043C=) c.*818G= (n.*818G=) c.1993G= (p.Asp665=) c.276+16043C= (n.276+16043C=) c.*220+6501G= (n.*220+6501G=) c.1117G= (p.Asp373=) c.1144G= (p.Asp382=) c.1999G= (p.Asp667=) c.1813G= (p.Asp605=) c.1732G= (p.Asp578=) c.1438G= (p.Asp480=) c.1819G= (p.Asp607=) | |
2 | g.48687723C>G | CA1652935 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2074G>C (p.Asp692His) c.*386G>C (n.*386G>C) c.3441+16043C>G (n.3441+16043C>G) c.*818G>C (n.*818G>C) c.1993G>C (p.Asp665His) c.276+16043C>G (n.276+16043C>G) c.*220+6501G>C (n.*220+6501G>C) c.1117G>C (p.Asp373His) c.1144G>C (p.Asp382His) c.1999G>C (p.Asp667His) c.1813G>C (p.Asp605His) c.1732G>C (p.Asp578His) c.1438G>C (p.Asp480His) c.1819G>C (p.Asp607His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687723C>T | CA346742891 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2074G>A (p.Asp692Asn) c.*386G>A (n.*386G>A) c.3441+16043C>T (n.3441+16043C>T) c.*818G>A (n.*818G>A) c.1993G>A (p.Asp665Asn) c.276+16043C>T (n.276+16043C>T) c.*220+6501G>A (n.*220+6501G>A) c.1117G>A (p.Asp373Asn) c.1144G>A (p.Asp382Asn) c.1999G>A (p.Asp667Asn) c.1813G>A (p.Asp605Asn) c.1732G>A (p.Asp578Asn) c.1438G>A (p.Asp480Asn) c.1819G>A (p.Asp607Asn) | dbSNP |
2 | g.48687724T>A | CA426124465 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2073A>T (p.Leu691=) c.*385A>T (n.*385A>T) c.3441+16044T>A (n.3441+16044T>A) c.*817A>T (n.*817A>T) c.1992A>T (p.Leu664=) c.276+16044T>A (n.276+16044T>A) c.*220+6500A>T (n.*220+6500A>T) c.1116A>T (p.Leu372=) c.1143A>T (p.Leu381=) c.1998A>T (p.Leu666=) c.1812A>T (p.Leu604=) c.1731A>T (p.Leu577=) c.1437A>T (p.Leu479=) c.1818A>T (p.Leu606=) | |
2 | g.48687724T>C | CA426124466 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2073A>G (p.Leu691=) c.*385A>G (n.*385A>G) c.3441+16044T>C (n.3441+16044T>C) c.*817A>G (n.*817A>G) c.1992A>G (p.Leu664=) c.276+16044T>C (n.276+16044T>C) c.*220+6500A>G (n.*220+6500A>G) c.1116A>G (p.Leu372=) c.1143A>G (p.Leu381=) c.1998A>G (p.Leu666=) c.1812A>G (p.Leu604=) c.1731A>G (p.Leu577=) c.1437A>G (p.Leu479=) c.1818A>G (p.Leu606=) | |
2 | g.48687724T>G | CA426124468 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2073A>C (p.Leu691=) c.*385A>C (n.*385A>C) c.3441+16044T>G (n.3441+16044T>G) c.*817A>C (n.*817A>C) c.1992A>C (p.Leu664=) c.276+16044T>G (n.276+16044T>G) c.*220+6500A>C (n.*220+6500A>C) c.1116A>C (p.Leu372=) c.1143A>C (p.Leu381=) c.1998A>C (p.Leu666=) c.1812A>C (p.Leu604=) c.1731A>C (p.Leu577=) c.1437A>C (p.Leu479=) c.1818A>C (p.Leu606=) | |
2 | g.48687725A= | CA1248600813 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2072T= (p.Leu691=) c.*384T= (n.*384T=) c.3441+16045A= (n.3441+16045A=) c.*816T= (n.*816T=) c.1991T= (p.Leu664=) c.276+16045A= (n.276+16045A=) c.*220+6499T= (n.*220+6499T=) c.1115T= (p.Leu372=) c.1142T= (p.Leu381=) c.1997T= (p.Leu666=) c.1811T= (p.Leu604=) c.1730T= (p.Leu577=) c.1436T= (p.Leu479=) c.1817T= (p.Leu606=) | |
2 | g.48687725A>C | CA346742894 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2072T>G (p.Leu691Arg) c.*384T>G (n.*384T>G) c.3441+16045A>C (n.3441+16045A>C) c.*816T>G (n.*816T>G) c.1991T>G (p.Leu664Arg) c.276+16045A>C (n.276+16045A>C) c.*220+6499T>G (n.*220+6499T>G) c.1115T>G (p.Leu372Arg) c.1142T>G (p.Leu381Arg) c.1997T>G (p.Leu666Arg) c.1811T>G (p.Leu604Arg) c.1730T>G (p.Leu577Arg) c.1436T>G (p.Leu479Arg) c.1817T>G (p.Leu606Arg) | |
2 | g.48687725A>G | CA346742896 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2072T>C (p.Leu691Pro) c.*384T>C (n.*384T>C) c.3441+16045A>G (n.3441+16045A>G) c.*816T>C (n.*816T>C) c.1991T>C (p.Leu664Pro) c.276+16045A>G (n.276+16045A>G) c.*220+6499T>C (n.*220+6499T>C) c.1115T>C (p.Leu372Pro) c.1142T>C (p.Leu381Pro) c.1997T>C (p.Leu666Pro) c.1811T>C (p.Leu604Pro) c.1730T>C (p.Leu577Pro) c.1436T>C (p.Leu479Pro) c.1817T>C (p.Leu606Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687725A>T | CA346742897 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2072T>A (p.Leu691Gln) c.*384T>A (n.*384T>A) c.3441+16045A>T (n.3441+16045A>T) c.*816T>A (n.*816T>A) c.1991T>A (p.Leu664Gln) c.276+16045A>T (n.276+16045A>T) c.*220+6499T>A (n.*220+6499T>A) c.1115T>A (p.Leu372Gln) c.1142T>A (p.Leu381Gln) c.1997T>A (p.Leu666Gln) c.1811T>A (p.Leu604Gln) c.1730T>A (p.Leu577Gln) c.1436T>A (p.Leu479Gln) c.1817T>A (p.Leu606Gln) | |
2 | g.48687726G>A | CA426124469 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2071C>T (p.Leu691=) c.*383C>T (n.*383C>T) c.3441+16046G>A (n.3441+16046G>A) c.*815C>T (n.*815C>T) c.1990C>T (p.Leu664=) c.276+16046G>A (n.276+16046G>A) c.*220+6498C>T (n.*220+6498C>T) c.1114C>T (p.Leu372=) c.1141C>T (p.Leu381=) c.1996C>T (p.Leu666=) c.1810C>T (p.Leu604=) c.1729C>T (p.Leu577=) c.1435C>T (p.Leu479=) c.1816C>T (p.Leu606=) | COSMIC |
2 | g.48687726G>C | CA346742898 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2071C>G (p.Leu691Val) c.*383C>G (n.*383C>G) c.3441+16046G>C (n.3441+16046G>C) c.*815C>G (n.*815C>G) c.1990C>G (p.Leu664Val) c.276+16046G>C (n.276+16046G>C) c.*220+6498C>G (n.*220+6498C>G) c.1114C>G (p.Leu372Val) c.1141C>G (p.Leu381Val) c.1996C>G (p.Leu666Val) c.1810C>G (p.Leu604Val) c.1729C>G (p.Leu577Val) c.1435C>G (p.Leu479Val) c.1816C>G (p.Leu606Val) | |
2 | g.48687726G>T | CA346742899 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2071C>A (p.Leu691Ile) c.*383C>A (n.*383C>A) c.3441+16046G>T (n.3441+16046G>T) c.*815C>A (n.*815C>A) c.1990C>A (p.Leu664Ile) c.276+16046G>T (n.276+16046G>T) c.*220+6498C>A (n.*220+6498C>A) c.1114C>A (p.Leu372Ile) c.1141C>A (p.Leu381Ile) c.1996C>A (p.Leu666Ile) c.1810C>A (p.Leu604Ile) c.1729C>A (p.Leu577Ile) c.1435C>A (p.Leu479Ile) c.1816C>A (p.Leu606Ile) | |
2 | g.48687727G>A | CA426124470 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2070C>T (p.Leu690=) c.*382C>T (n.*382C>T) c.3441+16047G>A (n.3441+16047G>A) c.*814C>T (n.*814C>T) c.1989C>T (p.Leu663=) c.276+16047G>A (n.276+16047G>A) c.*220+6497C>T (n.*220+6497C>T) c.1113C>T (p.Leu371=) c.1140C>T (p.Leu380=) c.1995C>T (p.Leu665=) c.1809C>T (p.Leu603=) c.1728C>T (p.Leu576=) c.1434C>T (p.Leu478=) c.1815C>T (p.Leu605=) | dbSNP |
2 | g.48687727G>C | CA426124471 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2070C>G (p.Leu690=) c.*382C>G (n.*382C>G) c.3441+16047G>C (n.3441+16047G>C) c.*814C>G (n.*814C>G) c.1989C>G (p.Leu663=) c.276+16047G>C (n.276+16047G>C) c.*220+6497C>G (n.*220+6497C>G) c.1113C>G (p.Leu371=) c.1140C>G (p.Leu380=) c.1995C>G (p.Leu665=) c.1809C>G (p.Leu603=) c.1728C>G (p.Leu576=) c.1434C>G (p.Leu478=) c.1815C>G (p.Leu605=) | |
2 | g.48687727G= | CA1248600814 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2070C= (p.Leu690=) c.*382C= (n.*382C=) c.3441+16047G= (n.3441+16047G=) c.*814C= (n.*814C=) c.1989C= (p.Leu663=) c.276+16047G= (n.276+16047G=) c.*220+6497C= (n.*220+6497C=) c.1113C= (p.Leu371=) c.1140C= (p.Leu380=) c.1995C= (p.Leu665=) c.1809C= (p.Leu603=) c.1728C= (p.Leu576=) c.1434C= (p.Leu478=) c.1815C= (p.Leu605=) | |
2 | g.48687727G>T | CA426124472 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2070C>A (p.Leu690=) c.*382C>A (n.*382C>A) c.3441+16047G>T (n.3441+16047G>T) c.*814C>A (n.*814C>A) c.1989C>A (p.Leu663=) c.276+16047G>T (n.276+16047G>T) c.*220+6497C>A (n.*220+6497C>A) c.1113C>A (p.Leu371=) c.1140C>A (p.Leu380=) c.1995C>A (p.Leu665=) c.1809C>A (p.Leu603=) c.1728C>A (p.Leu576=) c.1434C>A (p.Leu478=) c.1815C>A (p.Leu605=) | |
2 | g.48687728A>C | CA346742900 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2069T>G (p.Leu690Arg) c.*381T>G (n.*381T>G) c.3441+16048A>C (n.3441+16048A>C) c.*813T>G (n.*813T>G) c.1988T>G (p.Leu663Arg) c.276+16048A>C (n.276+16048A>C) c.*220+6496T>G (n.*220+6496T>G) c.1112T>G (p.Leu371Arg) c.1139T>G (p.Leu380Arg) c.1994T>G (p.Leu665Arg) c.1808T>G (p.Leu603Arg) c.1727T>G (p.Leu576Arg) c.1433T>G (p.Leu478Arg) c.1814T>G (p.Leu605Arg) | |
2 | g.48687728A>G | CA346742902 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2069T>C (p.Leu690Pro) c.*381T>C (n.*381T>C) c.3441+16048A>G (n.3441+16048A>G) c.*813T>C (n.*813T>C) c.1988T>C (p.Leu663Pro) c.276+16048A>G (n.276+16048A>G) c.*220+6496T>C (n.*220+6496T>C) c.1112T>C (p.Leu371Pro) c.1139T>C (p.Leu380Pro) c.1994T>C (p.Leu665Pro) c.1808T>C (p.Leu603Pro) c.1727T>C (p.Leu576Pro) c.1433T>C (p.Leu478Pro) c.1814T>C (p.Leu605Pro) | |
2 | g.48687728A>T | CA346742905 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2069T>A (p.Leu690His) c.*381T>A (n.*381T>A) c.3441+16048A>T (n.3441+16048A>T) c.*813T>A (n.*813T>A) c.1988T>A (p.Leu663His) c.276+16048A>T (n.276+16048A>T) c.*220+6496T>A (n.*220+6496T>A) c.1112T>A (p.Leu371His) c.1139T>A (p.Leu380His) c.1994T>A (p.Leu665His) c.1808T>A (p.Leu603His) c.1727T>A (p.Leu576His) c.1433T>A (p.Leu478His) c.1814T>A (p.Leu605His) | |
2 | g.48687729G>A | CA346742909 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2068C>T (p.Leu690Phe) c.*380C>T (n.*380C>T) c.3441+16049G>A (n.3441+16049G>A) c.*812C>T (n.*812C>T) c.1987C>T (p.Leu663Phe) c.276+16049G>A (n.276+16049G>A) c.*220+6495C>T (n.*220+6495C>T) c.1111C>T (p.Leu371Phe) c.1138C>T (p.Leu380Phe) c.1993C>T (p.Leu665Phe) c.1807C>T (p.Leu603Phe) c.1726C>T (p.Leu576Phe) c.1432C>T (p.Leu478Phe) c.1813C>T (p.Leu605Phe) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687729G>C | CA346742911 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2068C>G (p.Leu690Val) c.*380C>G (n.*380C>G) c.3441+16049G>C (n.3441+16049G>C) c.*812C>G (n.*812C>G) c.1987C>G (p.Leu663Val) c.276+16049G>C (n.276+16049G>C) c.*220+6495C>G (n.*220+6495C>G) c.1111C>G (p.Leu371Val) c.1138C>G (p.Leu380Val) c.1993C>G (p.Leu665Val) c.1807C>G (p.Leu603Val) c.1726C>G (p.Leu576Val) c.1432C>G (p.Leu478Val) c.1813C>G (p.Leu605Val) | gnomAD v4 |
2 | g.48687729G= | CA1248600815 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2068C= (p.Leu690=) c.*380C= (n.*380C=) c.3441+16049G= (n.3441+16049G=) c.*812C= (n.*812C=) c.1987C= (p.Leu663=) c.276+16049G= (n.276+16049G=) c.*220+6495C= (n.*220+6495C=) c.1111C= (p.Leu371=) c.1138C= (p.Leu380=) c.1993C= (p.Leu665=) c.1807C= (p.Leu603=) c.1726C= (p.Leu576=) c.1432C= (p.Leu478=) c.1813C= (p.Leu605=) | |
2 | g.48687729G>T | CA346742908 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2068C>A (p.Leu690Ile) c.*380C>A (n.*380C>A) c.3441+16049G>T (n.3441+16049G>T) c.*812C>A (n.*812C>A) c.1987C>A (p.Leu663Ile) c.276+16049G>T (n.276+16049G>T) c.*220+6495C>A (n.*220+6495C>A) c.1111C>A (p.Leu371Ile) c.1138C>A (p.Leu380Ile) c.1993C>A (p.Leu665Ile) c.1807C>A (p.Leu603Ile) c.1726C>A (p.Leu576Ile) c.1432C>A (p.Leu478Ile) c.1813C>A (p.Leu605Ile) | |
2 | g.48687730A>C | CA426124474 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2067T>G (p.Ala689=) c.*379T>G (n.*379T>G) c.3441+16050A>C (n.3441+16050A>C) c.*811T>G (n.*811T>G) c.1986T>G (p.Ala662=) c.276+16050A>C (n.276+16050A>C) c.*220+6494T>G (n.*220+6494T>G) c.1110T>G (p.Ala370=) c.1137T>G (p.Ala379=) c.1992T>G (p.Ala664=) c.1806T>G (p.Ala602=) c.1725T>G (p.Ala575=) c.1431T>G (p.Ala477=) c.1812T>G (p.Ala604=) | |
2 | g.48687730A>G | CA426124475 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2067T>C (p.Ala689=) c.*379T>C (n.*379T>C) c.3441+16050A>G (n.3441+16050A>G) c.*811T>C (n.*811T>C) c.1986T>C (p.Ala662=) c.276+16050A>G (n.276+16050A>G) c.*220+6494T>C (n.*220+6494T>C) c.1110T>C (p.Ala370=) c.1137T>C (p.Ala379=) c.1992T>C (p.Ala664=) c.1806T>C (p.Ala602=) c.1725T>C (p.Ala575=) c.1431T>C (p.Ala477=) c.1812T>C (p.Ala604=) | gnomAD v4 |
2 | g.48687730A>T | CA426124476 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2067T>A (p.Ala689=) c.*379T>A (n.*379T>A) c.3441+16050A>T (n.3441+16050A>T) c.*811T>A (n.*811T>A) c.1986T>A (p.Ala662=) c.276+16050A>T (n.276+16050A>T) c.*220+6494T>A (n.*220+6494T>A) c.1110T>A (p.Ala370=) c.1137T>A (p.Ala379=) c.1992T>A (p.Ala664=) c.1806T>A (p.Ala602=) c.1725T>A (p.Ala575=) c.1431T>A (p.Ala477=) c.1812T>A (p.Ala604=) | |
2 | g.48687731G>A | CA346742912 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2066C>T (p.Ala689Val) c.*378C>T (n.*378C>T) c.3441+16051G>A (n.3441+16051G>A) c.*810C>T (n.*810C>T) c.1985C>T (p.Ala662Val) c.276+16051G>A (n.276+16051G>A) c.*220+6493C>T (n.*220+6493C>T) c.1109C>T (p.Ala370Val) c.1136C>T (p.Ala379Val) c.1991C>T (p.Ala664Val) c.1805C>T (p.Ala602Val) c.1724C>T (p.Ala575Val) c.1430C>T (p.Ala477Val) c.1811C>T (p.Ala604Val) | |
2 | g.48687731G>C | CA1652937 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2066C>G (p.Ala689Gly) c.*378C>G (n.*378C>G) c.3441+16051G>C (n.3441+16051G>C) c.*810C>G (n.*810C>G) c.1985C>G (p.Ala662Gly) c.276+16051G>C (n.276+16051G>C) c.*220+6493C>G (n.*220+6493C>G) c.1109C>G (p.Ala370Gly) c.1136C>G (p.Ala379Gly) c.1991C>G (p.Ala664Gly) c.1805C>G (p.Ala602Gly) c.1724C>G (p.Ala575Gly) c.1430C>G (p.Ala477Gly) c.1811C>G (p.Ala604Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687731G= | CA1248600816 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2066C= (p.Ala689=) c.*378C= (n.*378C=) c.3441+16051G= (n.3441+16051G=) c.*810C= (n.*810C=) c.1985C= (p.Ala662=) c.276+16051G= (n.276+16051G=) c.*220+6493C= (n.*220+6493C=) c.1109C= (p.Ala370=) c.1136C= (p.Ala379=) c.1991C= (p.Ala664=) c.1805C= (p.Ala602=) c.1724C= (p.Ala575=) c.1430C= (p.Ala477=) c.1811C= (p.Ala604=) | |
2 | g.48687731G>T | CA1652936 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2066C>A (p.Ala689Asp) c.*378C>A (n.*378C>A) c.3441+16051G>T (n.3441+16051G>T) c.*810C>A (n.*810C>A) c.1985C>A (p.Ala662Asp) c.276+16051G>T (n.276+16051G>T) c.*220+6493C>A (n.*220+6493C>A) c.1109C>A (p.Ala370Asp) c.1136C>A (p.Ala379Asp) c.1991C>A (p.Ala664Asp) c.1805C>A (p.Ala602Asp) c.1724C>A (p.Ala575Asp) c.1430C>A (p.Ala477Asp) c.1811C>A (p.Ala604Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687732C>A | CA346742914 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2065G>T (p.Ala689Ser) c.*377G>T (n.*377G>T) c.3441+16052C>A (n.3441+16052C>A) c.*809G>T (n.*809G>T) c.1984G>T (p.Ala662Ser) c.276+16052C>A (n.276+16052C>A) c.*220+6492G>T (n.*220+6492G>T) c.1108G>T (p.Ala370Ser) c.1135G>T (p.Ala379Ser) c.1990G>T (p.Ala664Ser) c.1804G>T (p.Ala602Ser) c.1723G>T (p.Ala575Ser) c.1429G>T (p.Ala477Ser) c.1810G>T (p.Ala604Ser) | COSMIC |
2 | g.48687732C= | CA1248600817 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2065G= (p.Ala689=) c.*377G= (n.*377G=) c.3441+16052C= (n.3441+16052C=) c.*809G= (n.*809G=) c.1984G= (p.Ala662=) c.276+16052C= (n.276+16052C=) c.*220+6492G= (n.*220+6492G=) c.1108G= (p.Ala370=) c.1135G= (p.Ala379=) c.1990G= (p.Ala664=) c.1804G= (p.Ala602=) c.1723G= (p.Ala575=) c.1429G= (p.Ala477=) c.1810G= (p.Ala604=) | |
2 | g.48687732C>G | CA346742916 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2065G>C (p.Ala689Pro) c.*377G>C (n.*377G>C) c.3441+16052C>G (n.3441+16052C>G) c.*809G>C (n.*809G>C) c.1984G>C (p.Ala662Pro) c.276+16052C>G (n.276+16052C>G) c.*220+6492G>C (n.*220+6492G>C) c.1108G>C (p.Ala370Pro) c.1135G>C (p.Ala379Pro) c.1990G>C (p.Ala664Pro) c.1804G>C (p.Ala602Pro) c.1723G>C (p.Ala575Pro) c.1429G>C (p.Ala477Pro) c.1810G>C (p.Ala604Pro) | |
2 | g.48687732C>T | CA1652938 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2065G>A (p.Ala689Thr) c.*377G>A (n.*377G>A) c.3441+16052C>T (n.3441+16052C>T) c.*809G>A (n.*809G>A) c.1984G>A (p.Ala662Thr) c.276+16052C>T (n.276+16052C>T) c.*220+6492G>A (n.*220+6492G>A) c.1108G>A (p.Ala370Thr) c.1135G>A (p.Ala379Thr) c.1990G>A (p.Ala664Thr) c.1804G>A (p.Ala602Thr) c.1723G>A (p.Ala575Thr) c.1429G>A (p.Ala477Thr) c.1810G>A (p.Ala604Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687733T>A | CA426124480 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2064A>T (p.Thr688=) c.*376A>T (n.*376A>T) c.3441+16053T>A (n.3441+16053T>A) c.*808A>T (n.*808A>T) c.1983A>T (p.Thr661=) c.276+16053T>A (n.276+16053T>A) c.*220+6491A>T (n.*220+6491A>T) c.1107A>T (p.Thr369=) c.1134A>T (p.Thr378=) c.1989A>T (p.Thr663=) c.1803A>T (p.Thr601=) c.1722A>T (p.Thr574=) c.1428A>T (p.Thr476=) c.1809A>T (p.Thr603=) | |
2 | g.48687733T>C | CA426124481 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2064A>G (p.Thr688=) c.*376A>G (n.*376A>G) c.3441+16053T>C (n.3441+16053T>C) c.*808A>G (n.*808A>G) c.1983A>G (p.Thr661=) c.276+16053T>C (n.276+16053T>C) c.*220+6491A>G (n.*220+6491A>G) c.1107A>G (p.Thr369=) c.1134A>G (p.Thr378=) c.1989A>G (p.Thr663=) c.1803A>G (p.Thr601=) c.1722A>G (p.Thr574=) c.1428A>G (p.Thr476=) c.1809A>G (p.Thr603=) | |
2 | g.48687733T>G | CA426124482 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2064A>C (p.Thr688=) c.*376A>C (n.*376A>C) c.3441+16053T>G (n.3441+16053T>G) c.*808A>C (n.*808A>C) c.1983A>C (p.Thr661=) c.276+16053T>G (n.276+16053T>G) c.*220+6491A>C (n.*220+6491A>C) c.1107A>C (p.Thr369=) c.1134A>C (p.Thr378=) c.1989A>C (p.Thr663=) c.1803A>C (p.Thr601=) c.1722A>C (p.Thr574=) c.1428A>C (p.Thr476=) c.1809A>C (p.Thr603=) | |
2 | g.48687734G>A | CA346742919 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2063C>T (p.Thr688Ile) c.*375C>T (n.*375C>T) c.3441+16054G>A (n.3441+16054G>A) c.*807C>T (n.*807C>T) c.1982C>T (p.Thr661Ile) c.276+16054G>A (n.276+16054G>A) c.*220+6490C>T (n.*220+6490C>T) c.1106C>T (p.Thr369Ile) c.1133C>T (p.Thr378Ile) c.1988C>T (p.Thr663Ile) c.1802C>T (p.Thr601Ile) c.1721C>T (p.Thr574Ile) c.1427C>T (p.Thr476Ile) c.1808C>T (p.Thr603Ile) | |
2 | g.48687734G>C | CA346742920 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2063C>G (p.Thr688Arg) c.*375C>G (n.*375C>G) c.3441+16054G>C (n.3441+16054G>C) c.*807C>G (n.*807C>G) c.1982C>G (p.Thr661Arg) c.276+16054G>C (n.276+16054G>C) c.*220+6490C>G (n.*220+6490C>G) c.1106C>G (p.Thr369Arg) c.1133C>G (p.Thr378Arg) c.1988C>G (p.Thr663Arg) c.1802C>G (p.Thr601Arg) c.1721C>G (p.Thr574Arg) c.1427C>G (p.Thr476Arg) c.1808C>G (p.Thr603Arg) | |
2 | g.48687734G>T | CA346742921 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2063C>A (p.Thr688Lys) c.*375C>A (n.*375C>A) c.3441+16054G>T (n.3441+16054G>T) c.*807C>A (n.*807C>A) c.1982C>A (p.Thr661Lys) c.276+16054G>T (n.276+16054G>T) c.*220+6490C>A (n.*220+6490C>A) c.1106C>A (p.Thr369Lys) c.1133C>A (p.Thr378Lys) c.1988C>A (p.Thr663Lys) c.1802C>A (p.Thr601Lys) c.1721C>A (p.Thr574Lys) c.1427C>A (p.Thr476Lys) c.1808C>A (p.Thr603Lys) | |
2 | g.48687735T>A | CA346742925 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2062A>T (p.Thr688Ser) c.*374A>T (n.*374A>T) c.3441+16055T>A (n.3441+16055T>A) c.*806A>T (n.*806A>T) c.1981A>T (p.Thr661Ser) c.276+16055T>A (n.276+16055T>A) c.*220+6489A>T (n.*220+6489A>T) c.1105A>T (p.Thr369Ser) c.1132A>T (p.Thr378Ser) c.1987A>T (p.Thr663Ser) c.1801A>T (p.Thr601Ser) c.1720A>T (p.Thr574Ser) c.1426A>T (p.Thr476Ser) c.1807A>T (p.Thr603Ser) | |
2 | g.48687735T>C | CA346742928 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2062A>G (p.Thr688Ala) c.*374A>G (n.*374A>G) c.3441+16055T>C (n.3441+16055T>C) c.*806A>G (n.*806A>G) c.1981A>G (p.Thr661Ala) c.276+16055T>C (n.276+16055T>C) c.*220+6489A>G (n.*220+6489A>G) c.1105A>G (p.Thr369Ala) c.1132A>G (p.Thr378Ala) c.1987A>G (p.Thr663Ala) c.1801A>G (p.Thr601Ala) c.1720A>G (p.Thr574Ala) c.1426A>G (p.Thr476Ala) c.1807A>G (p.Thr603Ala) | |
2 | g.48687735T>G | CA346742931 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2062A>C (p.Thr688Pro) c.*374A>C (n.*374A>C) c.3441+16055T>G (n.3441+16055T>G) c.*806A>C (n.*806A>C) c.1981A>C (p.Thr661Pro) c.276+16055T>G (n.276+16055T>G) c.*220+6489A>C (n.*220+6489A>C) c.1105A>C (p.Thr369Pro) c.1132A>C (p.Thr378Pro) c.1987A>C (p.Thr663Pro) c.1801A>C (p.Thr601Pro) c.1720A>C (p.Thr574Pro) c.1426A>C (p.Thr476Pro) c.1807A>C (p.Thr603Pro) | gnomAD v4 |
2 | g.48687736A>C | CA426124488 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2061T>G (p.Gly687=) c.*373T>G (n.*373T>G) c.3441+16056A>C (n.3441+16056A>C) c.*805T>G (n.*805T>G) c.1980T>G (p.Gly660=) c.276+16056A>C (n.276+16056A>C) c.*220+6488T>G (n.*220+6488T>G) c.1104T>G (p.Gly368=) c.1131T>G (p.Gly377=) c.1986T>G (p.Gly662=) c.1800T>G (p.Gly600=) c.1719T>G (p.Gly573=) c.1425T>G (p.Gly475=) c.1806T>G (p.Gly602=) | |
2 | g.48687736A>G | CA426124487 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2061T>C (p.Gly687=) c.*373T>C (n.*373T>C) c.3441+16056A>G (n.3441+16056A>G) c.*805T>C (n.*805T>C) c.1980T>C (p.Gly660=) c.276+16056A>G (n.276+16056A>G) c.*220+6488T>C (n.*220+6488T>C) c.1104T>C (p.Gly368=) c.1131T>C (p.Gly377=) c.1986T>C (p.Gly662=) c.1800T>C (p.Gly600=) c.1719T>C (p.Gly573=) c.1425T>C (p.Gly475=) c.1806T>C (p.Gly602=) | |
2 | g.48687736A>T | CA426124486 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2061T>A (p.Gly687=) c.*373T>A (n.*373T>A) c.3441+16056A>T (n.3441+16056A>T) c.*805T>A (n.*805T>A) c.1980T>A (p.Gly660=) c.276+16056A>T (n.276+16056A>T) c.*220+6488T>A (n.*220+6488T>A) c.1104T>A (p.Gly368=) c.1131T>A (p.Gly377=) c.1986T>A (p.Gly662=) c.1800T>A (p.Gly600=) c.1719T>A (p.Gly573=) c.1425T>A (p.Gly475=) c.1806T>A (p.Gly602=) | |
2 | g.48687737C>A | CA346742933 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2060G>T (p.Gly687Val) c.*372G>T (n.*372G>T) c.3441+16057C>A (n.3441+16057C>A) c.*804G>T (n.*804G>T) c.1979G>T (p.Gly660Val) c.276+16057C>A (n.276+16057C>A) c.*220+6487G>T (n.*220+6487G>T) c.1103G>T (p.Gly368Val) c.1130G>T (p.Gly377Val) c.1985G>T (p.Gly662Val) c.1799G>T (p.Gly600Val) c.1718G>T (p.Gly573Val) c.1424G>T (p.Gly475Val) c.1805G>T (p.Gly602Val) | |
2 | g.48687737C>G | CA346742935 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2060G>C (p.Gly687Ala) c.*372G>C (n.*372G>C) c.3441+16057C>G (n.3441+16057C>G) c.*804G>C (n.*804G>C) c.1979G>C (p.Gly660Ala) c.276+16057C>G (n.276+16057C>G) c.*220+6487G>C (n.*220+6487G>C) c.1103G>C (p.Gly368Ala) c.1130G>C (p.Gly377Ala) c.1985G>C (p.Gly662Ala) c.1799G>C (p.Gly600Ala) c.1718G>C (p.Gly573Ala) c.1424G>C (p.Gly475Ala) c.1805G>C (p.Gly602Ala) | |
2 | g.48687737C>T | CA346742937 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2060G>A (p.Gly687Asp) c.*372G>A (n.*372G>A) c.3441+16057C>T (n.3441+16057C>T) c.*804G>A (n.*804G>A) c.1979G>A (p.Gly660Asp) c.276+16057C>T (n.276+16057C>T) c.*220+6487G>A (n.*220+6487G>A) c.1103G>A (p.Gly368Asp) c.1130G>A (p.Gly377Asp) c.1985G>A (p.Gly662Asp) c.1799G>A (p.Gly600Asp) c.1718G>A (p.Gly573Asp) c.1424G>A (p.Gly475Asp) c.1805G>A (p.Gly602Asp) | gnomAD v4 |
2 | g.48687738C>A | CA346742946 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2059G>T (p.Gly687Cys) c.*371G>T (n.*371G>T) c.3441+16058C>A (n.3441+16058C>A) c.*803G>T (n.*803G>T) c.1978G>T (p.Gly660Cys) c.276+16058C>A (n.276+16058C>A) c.*220+6486G>T (n.*220+6486G>T) c.1102G>T (p.Gly368Cys) c.1129G>T (p.Gly377Cys) c.1984G>T (p.Gly662Cys) c.1798G>T (p.Gly600Cys) c.1717G>T (p.Gly573Cys) c.1423G>T (p.Gly475Cys) c.1804G>T (p.Gly602Cys) | |
2 | g.48687738C>G | CA346742943 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2059G>C (p.Gly687Arg) c.*371G>C (n.*371G>C) c.3441+16058C>G (n.3441+16058C>G) c.*803G>C (n.*803G>C) c.1978G>C (p.Gly660Arg) c.276+16058C>G (n.276+16058C>G) c.*220+6486G>C (n.*220+6486G>C) c.1102G>C (p.Gly368Arg) c.1129G>C (p.Gly377Arg) c.1984G>C (p.Gly662Arg) c.1798G>C (p.Gly600Arg) c.1717G>C (p.Gly573Arg) c.1423G>C (p.Gly475Arg) c.1804G>C (p.Gly602Arg) | |
2 | g.48687738C>T | CA346742945 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2059G>A (p.Gly687Ser) c.*371G>A (n.*371G>A) c.3441+16058C>T (n.3441+16058C>T) c.*803G>A (n.*803G>A) c.1978G>A (p.Gly660Ser) c.276+16058C>T (n.276+16058C>T) c.*220+6486G>A (n.*220+6486G>A) c.1102G>A (p.Gly368Ser) c.1129G>A (p.Gly377Ser) c.1984G>A (p.Gly662Ser) c.1798G>A (p.Gly600Ser) c.1717G>A (p.Gly573Ser) c.1423G>A (p.Gly475Ser) c.1804G>A (p.Gly602Ser) | |
2 | g.48687738_48687739del | CA2845004309 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2058_2059del (p.Gly687TyrfsTer26) c.*370_*371del (n.*370_*371del) c.3441+16058_3441+16059del (n.3441+16058_3441+16059del) c.*802_*803del (n.*802_*803del) c.1977_1978del (p.Gly660TyrfsTer26) c.276+16058_276+16059del (n.276+16058_276+16059del) c.*220+6485_*220+6486del (n.*220+6485_*220+6486del) c.1101_1102del (p.Gly368TyrfsTer26) c.1128_1129del (p.Gly377TyrfsTer26) c.1983_1984del (p.Gly662TyrfsTer26) c.1797_1798del (p.Gly600TyrfsTer26) c.1716_1717del (p.Gly573TyrfsTer26) c.1422_1423del (p.Gly475TyrfsTer26) c.1803_1804del (p.Gly602TyrfsTer26) | |
2 | g.48687739T>A | CA346742948 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2058A>T (p.Gln686His) c.*370A>T (n.*370A>T) c.3441+16059T>A (n.3441+16059T>A) c.*802A>T (n.*802A>T) c.1977A>T (p.Gln659His) c.276+16059T>A (n.276+16059T>A) c.*220+6485A>T (n.*220+6485A>T) c.1101A>T (p.Gln367His) c.1128A>T (p.Gln376His) c.1983A>T (p.Gln661His) c.1797A>T (p.Gln599His) c.1716A>T (p.Gln572His) c.1422A>T (p.Gln474His) c.1803A>T (p.Gln601His) | |
2 | g.48687739T>C | CA426124490 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2058A>G (p.Gln686=) c.*370A>G (n.*370A>G) c.3441+16059T>C (n.3441+16059T>C) c.*802A>G (n.*802A>G) c.1977A>G (p.Gln659=) c.276+16059T>C (n.276+16059T>C) c.*220+6485A>G (n.*220+6485A>G) c.1101A>G (p.Gln367=) c.1128A>G (p.Gln376=) c.1983A>G (p.Gln661=) c.1797A>G (p.Gln599=) c.1716A>G (p.Gln572=) c.1422A>G (p.Gln474=) c.1803A>G (p.Gln601=) | |
2 | g.48687739T>G | CA346742953 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2058A>C (p.Gln686His) c.*370A>C (n.*370A>C) c.3441+16059T>G (n.3441+16059T>G) c.*802A>C (n.*802A>C) c.1977A>C (p.Gln659His) c.276+16059T>G (n.276+16059T>G) c.*220+6485A>C (n.*220+6485A>C) c.1101A>C (p.Gln367His) c.1128A>C (p.Gln376His) c.1983A>C (p.Gln661His) c.1797A>C (p.Gln599His) c.1716A>C (p.Gln572His) c.1422A>C (p.Gln474His) c.1803A>C (p.Gln601His) | |
2 | g.48687740T>A | CA346742956 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2057A>T (p.Gln686Leu) c.*369A>T (n.*369A>T) c.3441+16060T>A (n.3441+16060T>A) c.*801A>T (n.*801A>T) c.1976A>T (p.Gln659Leu) c.276+16060T>A (n.276+16060T>A) c.*220+6484A>T (n.*220+6484A>T) c.1100A>T (p.Gln367Leu) c.1127A>T (p.Gln376Leu) c.1982A>T (p.Gln661Leu) c.1796A>T (p.Gln599Leu) c.1715A>T (p.Gln572Leu) c.1421A>T (p.Gln474Leu) c.1802A>T (p.Gln601Leu) | |
2 | g.48687740T>C | CA346742958 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2057A>G (p.Gln686Arg) c.*369A>G (n.*369A>G) c.3441+16060T>C (n.3441+16060T>C) c.*801A>G (n.*801A>G) c.1976A>G (p.Gln659Arg) c.276+16060T>C (n.276+16060T>C) c.*220+6484A>G (n.*220+6484A>G) c.1100A>G (p.Gln367Arg) c.1127A>G (p.Gln376Arg) c.1982A>G (p.Gln661Arg) c.1796A>G (p.Gln599Arg) c.1715A>G (p.Gln572Arg) c.1421A>G (p.Gln474Arg) c.1802A>G (p.Gln601Arg) | |
2 | g.48687740T>G | CA346742961 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2057A>C (p.Gln686Pro) c.*369A>C (n.*369A>C) c.3441+16060T>G (n.3441+16060T>G) c.*801A>C (n.*801A>C) c.1976A>C (p.Gln659Pro) c.276+16060T>G (n.276+16060T>G) c.*220+6484A>C (n.*220+6484A>C) c.1100A>C (p.Gln367Pro) c.1127A>C (p.Gln376Pro) c.1982A>C (p.Gln661Pro) c.1796A>C (p.Gln599Pro) c.1715A>C (p.Gln572Pro) c.1421A>C (p.Gln474Pro) c.1802A>C (p.Gln601Pro) | |
2 | g.48687741G>A | CA346742962 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2056C>T (p.Gln686Ter) c.*368C>T (n.*368C>T) c.3441+16061G>A (n.3441+16061G>A) c.*800C>T (n.*800C>T) c.1975C>T (p.Gln659Ter) c.276+16061G>A (n.276+16061G>A) c.*220+6483C>T (n.*220+6483C>T) c.1099C>T (p.Gln367Ter) c.1126C>T (p.Gln376Ter) c.1981C>T (p.Gln661Ter) c.1795C>T (p.Gln599Ter) c.1714C>T (p.Gln572Ter) c.1420C>T (p.Gln474Ter) c.1801C>T (p.Gln601Ter) | gnomAD v4 |
2 | g.48687741G>C | CA346742964 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2056C>G (p.Gln686Glu) c.*368C>G (n.*368C>G) c.3441+16061G>C (n.3441+16061G>C) c.*800C>G (n.*800C>G) c.1975C>G (p.Gln659Glu) c.276+16061G>C (n.276+16061G>C) c.*220+6483C>G (n.*220+6483C>G) c.1099C>G (p.Gln367Glu) c.1126C>G (p.Gln376Glu) c.1981C>G (p.Gln661Glu) c.1795C>G (p.Gln599Glu) c.1714C>G (p.Gln572Glu) c.1420C>G (p.Gln474Glu) c.1801C>G (p.Gln601Glu) | |
2 | g.48687741G>T | CA346742966 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2056C>A (p.Gln686Lys) c.*368C>A (n.*368C>A) c.3441+16061G>T (n.3441+16061G>T) c.*800C>A (n.*800C>A) c.1975C>A (p.Gln659Lys) c.276+16061G>T (n.276+16061G>T) c.*220+6483C>A (n.*220+6483C>A) c.1099C>A (p.Gln367Lys) c.1126C>A (p.Gln376Lys) c.1981C>A (p.Gln661Lys) c.1795C>A (p.Gln599Lys) c.1714C>A (p.Gln572Lys) c.1420C>A (p.Gln474Lys) c.1801C>A (p.Gln601Lys) | |
2 | g.48687742A>C | CA346742970 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2055T>G (p.Cys685Trp) c.*367T>G (n.*367T>G) c.3441+16062A>C (n.3441+16062A>C) c.*799T>G (n.*799T>G) c.1974T>G (p.Cys658Trp) c.276+16062A>C (n.276+16062A>C) c.*220+6482T>G (n.*220+6482T>G) c.1098T>G (p.Cys366Trp) c.1125T>G (p.Cys375Trp) c.1980T>G (p.Cys660Trp) c.1794T>G (p.Cys598Trp) c.1713T>G (p.Cys571Trp) c.1419T>G (p.Cys473Trp) c.1800T>G (p.Cys600Trp) | |
2 | g.48687742A>G | CA426124492 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2055T>C (p.Cys685=) c.*367T>C (n.*367T>C) c.3441+16062A>G (n.3441+16062A>G) c.*799T>C (n.*799T>C) c.1974T>C (p.Cys658=) c.276+16062A>G (n.276+16062A>G) c.*220+6482T>C (n.*220+6482T>C) c.1098T>C (p.Cys366=) c.1125T>C (p.Cys375=) c.1980T>C (p.Cys660=) c.1794T>C (p.Cys598=) c.1713T>C (p.Cys571=) c.1419T>C (p.Cys473=) c.1800T>C (p.Cys600=) | gnomAD v4 |
2 | g.48687742A>T | CA346742971 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2055T>A (p.Cys685Ter) c.*367T>A (n.*367T>A) c.3441+16062A>T (n.3441+16062A>T) c.*799T>A (n.*799T>A) c.1974T>A (p.Cys658Ter) c.276+16062A>T (n.276+16062A>T) c.*220+6482T>A (n.*220+6482T>A) c.1098T>A (p.Cys366Ter) c.1125T>A (p.Cys375Ter) c.1980T>A (p.Cys660Ter) c.1794T>A (p.Cys598Ter) c.1713T>A (p.Cys571Ter) c.1419T>A (p.Cys473Ter) c.1800T>A (p.Cys600Ter) | |
2 | g.48687743C>A | CA346742978 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2054G>T (p.Cys685Phe) c.*366G>T (n.*366G>T) c.3441+16063C>A (n.3441+16063C>A) c.*798G>T (n.*798G>T) c.1973G>T (p.Cys658Phe) c.276+16063C>A (n.276+16063C>A) c.*220+6481G>T (n.*220+6481G>T) c.1097G>T (p.Cys366Phe) c.1124G>T (p.Cys375Phe) c.1979G>T (p.Cys660Phe) c.1793G>T (p.Cys598Phe) c.1712G>T (p.Cys571Phe) c.1418G>T (p.Cys473Phe) c.1799G>T (p.Cys600Phe) | |
2 | g.48687743C>G | CA346742976 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2054G>C (p.Cys685Ser) c.*366G>C (n.*366G>C) c.3441+16063C>G (n.3441+16063C>G) c.*798G>C (n.*798G>C) c.1973G>C (p.Cys658Ser) c.276+16063C>G (n.276+16063C>G) c.*220+6481G>C (n.*220+6481G>C) c.1097G>C (p.Cys366Ser) c.1124G>C (p.Cys375Ser) c.1979G>C (p.Cys660Ser) c.1793G>C (p.Cys598Ser) c.1712G>C (p.Cys571Ser) c.1418G>C (p.Cys473Ser) c.1799G>C (p.Cys600Ser) | gnomAD v4 |
2 | g.48687743C>T | CA346742973 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2054G>A (p.Cys685Tyr) c.*366G>A (n.*366G>A) c.3441+16063C>T (n.3441+16063C>T) c.*798G>A (n.*798G>A) c.1973G>A (p.Cys658Tyr) c.276+16063C>T (n.276+16063C>T) c.*220+6481G>A (n.*220+6481G>A) c.1097G>A (p.Cys366Tyr) c.1124G>A (p.Cys375Tyr) c.1979G>A (p.Cys660Tyr) c.1793G>A (p.Cys598Tyr) c.1712G>A (p.Cys571Tyr) c.1418G>A (p.Cys473Tyr) c.1799G>A (p.Cys600Tyr) | |
2 | g.48687744A= | CA1248600818 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2053T= (p.Cys685=) c.*365T= (n.*365T=) c.3441+16064A= (n.3441+16064A=) c.*797T= (n.*797T=) c.1972T= (p.Cys658=) c.276+16064A= (n.276+16064A=) c.*220+6480T= (n.*220+6480T=) c.1096T= (p.Cys366=) c.1123T= (p.Cys375=) c.1978T= (p.Cys660=) c.1792T= (p.Cys598=) c.1711T= (p.Cys571=) c.1417T= (p.Cys473=) c.1798T= (p.Cys600=) | |
2 | g.48687744A>C | CA346742981 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2053T>G (p.Cys685Gly) c.*365T>G (n.*365T>G) c.3441+16064A>C (n.3441+16064A>C) c.*797T>G (n.*797T>G) c.1972T>G (p.Cys658Gly) c.276+16064A>C (n.276+16064A>C) c.*220+6480T>G (n.*220+6480T>G) c.1096T>G (p.Cys366Gly) c.1123T>G (p.Cys375Gly) c.1978T>G (p.Cys660Gly) c.1792T>G (p.Cys598Gly) c.1711T>G (p.Cys571Gly) c.1417T>G (p.Cys473Gly) c.1798T>G (p.Cys600Gly) | |
2 | g.48687744A>G | CA1652939 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2053T>C (p.Cys685Arg) c.*365T>C (n.*365T>C) c.3441+16064A>G (n.3441+16064A>G) c.*797T>C (n.*797T>C) c.1972T>C (p.Cys658Arg) c.276+16064A>G (n.276+16064A>G) c.*220+6480T>C (n.*220+6480T>C) c.1096T>C (p.Cys366Arg) c.1123T>C (p.Cys375Arg) c.1978T>C (p.Cys660Arg) c.1792T>C (p.Cys598Arg) c.1711T>C (p.Cys571Arg) c.1417T>C (p.Cys473Arg) c.1798T>C (p.Cys600Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687744A>T | CA346742984 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2053T>A (p.Cys685Ser) c.*365T>A (n.*365T>A) c.3441+16064A>T (n.3441+16064A>T) c.*797T>A (n.*797T>A) c.1972T>A (p.Cys658Ser) c.276+16064A>T (n.276+16064A>T) c.*220+6480T>A (n.*220+6480T>A) c.1096T>A (p.Cys366Ser) c.1123T>A (p.Cys375Ser) c.1978T>A (p.Cys660Ser) c.1792T>A (p.Cys598Ser) c.1711T>A (p.Cys571Ser) c.1417T>A (p.Cys473Ser) c.1798T>A (p.Cys600Ser) | |
2 | g.48687745G>A | CA426124494 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2052C>T (p.His684=) c.*364C>T (n.*364C>T) c.3441+16065G>A (n.3441+16065G>A) c.*796C>T (n.*796C>T) c.1971C>T (p.His657=) c.276+16065G>A (n.276+16065G>A) c.*220+6479C>T (n.*220+6479C>T) c.1095C>T (p.His365=) c.1122C>T (p.His374=) c.1977C>T (p.His659=) c.1791C>T (p.His597=) c.1710C>T (p.His570=) c.1416C>T (p.His472=) c.1797C>T (p.His599=) | gnomAD v4 |
2 | g.48687745G>C | CA346742987 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2052C>G (p.His684Gln) c.*364C>G (n.*364C>G) c.3441+16065G>C (n.3441+16065G>C) c.*796C>G (n.*796C>G) c.1971C>G (p.His657Gln) c.276+16065G>C (n.276+16065G>C) c.*220+6479C>G (n.*220+6479C>G) c.1095C>G (p.His365Gln) c.1122C>G (p.His374Gln) c.1977C>G (p.His659Gln) c.1791C>G (p.His597Gln) c.1710C>G (p.His570Gln) c.1416C>G (p.His472Gln) c.1797C>G (p.His599Gln) | |
2 | g.48687745G>T | CA346742994 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2052C>A (p.His684Gln) c.*364C>A (n.*364C>A) c.3441+16065G>T (n.3441+16065G>T) c.*796C>A (n.*796C>A) c.1971C>A (p.His657Gln) c.276+16065G>T (n.276+16065G>T) c.*220+6479C>A (n.*220+6479C>A) c.1095C>A (p.His365Gln) c.1122C>A (p.His374Gln) c.1977C>A (p.His659Gln) c.1791C>A (p.His597Gln) c.1710C>A (p.His570Gln) c.1416C>A (p.His472Gln) c.1797C>A (p.His599Gln) | |
2 | g.48687746T>A | CA346742996 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2051A>T (p.His684Leu) c.*363A>T (n.*363A>T) c.3441+16066T>A (n.3441+16066T>A) c.*795A>T (n.*795A>T) c.1970A>T (p.His657Leu) c.276+16066T>A (n.276+16066T>A) c.*220+6478A>T (n.*220+6478A>T) c.1094A>T (p.His365Leu) c.1121A>T (p.His374Leu) c.1976A>T (p.His659Leu) c.1790A>T (p.His597Leu) c.1709A>T (p.His570Leu) c.1415A>T (p.His472Leu) c.1796A>T (p.His599Leu) | gnomAD v4 |
2 | g.48687746T>C | CA346742997 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2051A>G (p.His684Arg) c.*363A>G (n.*363A>G) c.3441+16066T>C (n.3441+16066T>C) c.*795A>G (n.*795A>G) c.1970A>G (p.His657Arg) c.276+16066T>C (n.276+16066T>C) c.*220+6478A>G (n.*220+6478A>G) c.1094A>G (p.His365Arg) c.1121A>G (p.His374Arg) c.1976A>G (p.His659Arg) c.1790A>G (p.His597Arg) c.1709A>G (p.His570Arg) c.1415A>G (p.His472Arg) c.1796A>G (p.His599Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687746T>G | CA46752432 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2051A>C (p.His684Pro) c.*363A>C (n.*363A>C) c.3441+16066T>G (n.3441+16066T>G) c.*795A>C (n.*795A>C) c.1970A>C (p.His657Pro) c.276+16066T>G (n.276+16066T>G) c.*220+6478A>C (n.*220+6478A>C) c.1094A>C (p.His365Pro) c.1121A>C (p.His374Pro) c.1976A>C (p.His659Pro) c.1790A>C (p.His597Pro) c.1709A>C (p.His570Pro) c.1415A>C (p.His472Pro) c.1796A>C (p.His599Pro) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687746T= | CA1248600819 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2051A= (p.His684=) c.*363A= (n.*363A=) c.3441+16066T= (n.3441+16066T=) c.*795A= (n.*795A=) c.1970A= (p.His657=) c.276+16066T= (n.276+16066T=) c.*220+6478A= (n.*220+6478A=) c.1094A= (p.His365=) c.1121A= (p.His374=) c.1976A= (p.His659=) c.1790A= (p.His597=) c.1709A= (p.His570=) c.1415A= (p.His472=) c.1796A= (p.His599=) | |
2 | g.48687747G>A | CA346742998 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2050C>T (p.His684Tyr) c.*362C>T (n.*362C>T) c.3441+16067G>A (n.3441+16067G>A) c.*794C>T (n.*794C>T) c.1969C>T (p.His657Tyr) c.276+16067G>A (n.276+16067G>A) c.*220+6477C>T (n.*220+6477C>T) c.1093C>T (p.His365Tyr) c.1120C>T (p.His374Tyr) c.1975C>T (p.His659Tyr) c.1789C>T (p.His597Tyr) c.1708C>T (p.His570Tyr) c.1414C>T (p.His472Tyr) c.1795C>T (p.His599Tyr) | gnomAD v4 |
2 | g.48687747G>C | CA346742999 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2050C>G (p.His684Asp) c.*362C>G (n.*362C>G) c.3441+16067G>C (n.3441+16067G>C) c.*794C>G (n.*794C>G) c.1969C>G (p.His657Asp) c.276+16067G>C (n.276+16067G>C) c.*220+6477C>G (n.*220+6477C>G) c.1093C>G (p.His365Asp) c.1120C>G (p.His374Asp) c.1975C>G (p.His659Asp) c.1789C>G (p.His597Asp) c.1708C>G (p.His570Asp) c.1414C>G (p.His472Asp) c.1795C>G (p.His599Asp) | gnomAD v4 |
2 | g.48687747G= | CA1248600820 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2050C= (p.His684=) c.*362C= (n.*362C=) c.3441+16067G= (n.3441+16067G=) c.*794C= (n.*794C=) c.1969C= (p.His657=) c.276+16067G= (n.276+16067G=) c.*220+6477C= (n.*220+6477C=) c.1093C= (p.His365=) c.1120C= (p.His374=) c.1975C= (p.His659=) c.1789C= (p.His597=) c.1708C= (p.His570=) c.1414C= (p.His472=) c.1795C= (p.His599=) | |
2 | g.48687747G>T | CA1652940 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2050C>A (p.His684Asn) c.*362C>A (n.*362C>A) c.3441+16067G>T (n.3441+16067G>T) c.*794C>A (n.*794C>A) c.1969C>A (p.His657Asn) c.276+16067G>T (n.276+16067G>T) c.*220+6477C>A (n.*220+6477C>A) c.1093C>A (p.His365Asn) c.1120C>A (p.His374Asn) c.1975C>A (p.His659Asn) c.1789C>A (p.His597Asn) c.1708C>A (p.His570Asn) c.1414C>A (p.His472Asn) c.1795C>A (p.His599Asn) | dbSNP ExAC gnomAD v2 COSMIC |
2 | g.48687748C>A | CA346743005 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2049G>T (p.Leu683Phe) c.*361G>T (n.*361G>T) c.3441+16068C>A (n.3441+16068C>A) c.*793G>T (n.*793G>T) c.1968G>T (p.Leu656Phe) c.276+16068C>A (n.276+16068C>A) c.*220+6476G>T (n.*220+6476G>T) c.1092G>T (p.Leu364Phe) c.1119G>T (p.Leu373Phe) c.1974G>T (p.Leu658Phe) c.1788G>T (p.Leu596Phe) c.1707G>T (p.Leu569Phe) c.1413G>T (p.Leu471Phe) c.1794G>T (p.Leu598Phe) | |
2 | g.48687748C= | CA1248600821 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2049G= (p.Leu683=) c.*361G= (n.*361G=) c.3441+16068C= (n.3441+16068C=) c.*793G= (n.*793G=) c.1968G= (p.Leu656=) c.276+16068C= (n.276+16068C=) c.*220+6476G= (n.*220+6476G=) c.1092G= (p.Leu364=) c.1119G= (p.Leu373=) c.1974G= (p.Leu658=) c.1788G= (p.Leu596=) c.1707G= (p.Leu569=) c.1413G= (p.Leu471=) c.1794G= (p.Leu598=) | |
2 | g.48687748C>G | CA346743008 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2049G>C (p.Leu683Phe) c.*361G>C (n.*361G>C) c.3441+16068C>G (n.3441+16068C>G) c.*793G>C (n.*793G>C) c.1968G>C (p.Leu656Phe) c.276+16068C>G (n.276+16068C>G) c.*220+6476G>C (n.*220+6476G>C) c.1092G>C (p.Leu364Phe) c.1119G>C (p.Leu373Phe) c.1974G>C (p.Leu658Phe) c.1788G>C (p.Leu596Phe) c.1707G>C (p.Leu569Phe) c.1413G>C (p.Leu471Phe) c.1794G>C (p.Leu598Phe) | |
2 | g.48687748C>T | CA426124935 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2049G>A (p.Leu683=) c.*361G>A (n.*361G>A) c.3441+16068C>T (n.3441+16068C>T) c.*793G>A (n.*793G>A) c.1968G>A (p.Leu656=) c.276+16068C>T (n.276+16068C>T) c.*220+6476G>A (n.*220+6476G>A) c.1092G>A (p.Leu364=) c.1119G>A (p.Leu373=) c.1974G>A (p.Leu658=) c.1788G>A (p.Leu596=) c.1707G>A (p.Leu569=) c.1413G>A (p.Leu471=) c.1794G>A (p.Leu598=) | dbSNP |
2 | g.48687749A= | CA1248600822 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2048T= (p.Leu683=) c.*360T= (n.*360T=) c.3441+16069A= (n.3441+16069A=) c.*792T= (n.*792T=) c.1967T= (p.Leu656=) c.276+16069A= (n.276+16069A=) c.*220+6475T= (n.*220+6475T=) c.1091T= (p.Leu364=) c.1118T= (p.Leu373=) c.1973T= (p.Leu658=) c.1787T= (p.Leu596=) c.1706T= (p.Leu569=) c.1412T= (p.Leu471=) c.1793T= (p.Leu598=) | |
2 | g.48687749A>C | CA346743023 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2048T>G (p.Leu683Trp) c.*360T>G (n.*360T>G) c.3441+16069A>C (n.3441+16069A>C) c.*792T>G (n.*792T>G) c.1967T>G (p.Leu656Trp) c.276+16069A>C (n.276+16069A>C) c.*220+6475T>G (n.*220+6475T>G) c.1091T>G (p.Leu364Trp) c.1118T>G (p.Leu373Trp) c.1973T>G (p.Leu658Trp) c.1787T>G (p.Leu596Trp) c.1706T>G (p.Leu569Trp) c.1412T>G (p.Leu471Trp) c.1793T>G (p.Leu598Trp) | dbSNP |
2 | g.48687749A>G | CA346743014 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2048T>C (p.Leu683Ser) c.*360T>C (n.*360T>C) c.3441+16069A>G (n.3441+16069A>G) c.*792T>C (n.*792T>C) c.1967T>C (p.Leu656Ser) c.276+16069A>G (n.276+16069A>G) c.*220+6475T>C (n.*220+6475T>C) c.1091T>C (p.Leu364Ser) c.1118T>C (p.Leu373Ser) c.1973T>C (p.Leu658Ser) c.1787T>C (p.Leu596Ser) c.1706T>C (p.Leu569Ser) c.1412T>C (p.Leu471Ser) c.1793T>C (p.Leu598Ser) | |
2 | g.48687749A>T | CA346743017 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2048T>A (p.Leu683Ter) c.*360T>A (n.*360T>A) c.3441+16069A>T (n.3441+16069A>T) c.*792T>A (n.*792T>A) c.1967T>A (p.Leu656Ter) c.276+16069A>T (n.276+16069A>T) c.*220+6475T>A (n.*220+6475T>A) c.1091T>A (p.Leu364Ter) c.1118T>A (p.Leu373Ter) c.1973T>A (p.Leu658Ter) c.1787T>A (p.Leu596Ter) c.1706T>A (p.Leu569Ter) c.1412T>A (p.Leu471Ter) c.1793T>A (p.Leu598Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687750A>C | CA346743025 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2047T>G (p.Leu683Val) c.*359T>G (n.*359T>G) c.3441+16070A>C (n.3441+16070A>C) c.*791T>G (n.*791T>G) c.1966T>G (p.Leu656Val) c.276+16070A>C (n.276+16070A>C) c.*220+6474T>G (n.*220+6474T>G) c.1090T>G (p.Leu364Val) c.1117T>G (p.Leu373Val) c.1972T>G (p.Leu658Val) c.1786T>G (p.Leu596Val) c.1705T>G (p.Leu569Val) c.1411T>G (p.Leu471Val) c.1792T>G (p.Leu598Val) | |
2 | g.48687750A>G | CA426124940 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2047T>C (p.Leu683=) c.*359T>C (n.*359T>C) c.3441+16070A>G (n.3441+16070A>G) c.*791T>C (n.*791T>C) c.1966T>C (p.Leu656=) c.276+16070A>G (n.276+16070A>G) c.*220+6474T>C (n.*220+6474T>C) c.1090T>C (p.Leu364=) c.1117T>C (p.Leu373=) c.1972T>C (p.Leu658=) c.1786T>C (p.Leu596=) c.1705T>C (p.Leu569=) c.1411T>C (p.Leu471=) c.1792T>C (p.Leu598=) | |
2 | g.48687750A>T | CA346743027 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2047T>A (p.Leu683Met) c.*359T>A (n.*359T>A) c.3441+16070A>T (n.3441+16070A>T) c.*791T>A (n.*791T>A) c.1966T>A (p.Leu656Met) c.276+16070A>T (n.276+16070A>T) c.*220+6474T>A (n.*220+6474T>A) c.1090T>A (p.Leu364Met) c.1117T>A (p.Leu373Met) c.1972T>A (p.Leu658Met) c.1786T>A (p.Leu596Met) c.1705T>A (p.Leu569Met) c.1411T>A (p.Leu471Met) c.1792T>A (p.Leu598Met) | |
2 | g.48687751T>A | CA426124942 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2046A>T (p.Thr682=) c.*358A>T (n.*358A>T) c.3441+16071T>A (n.3441+16071T>A) c.*790A>T (n.*790A>T) c.1965A>T (p.Thr655=) c.276+16071T>A (n.276+16071T>A) c.*220+6473A>T (n.*220+6473A>T) c.1089A>T (p.Thr363=) c.1116A>T (p.Thr372=) c.1971A>T (p.Thr657=) c.1785A>T (p.Thr595=) c.1704A>T (p.Thr568=) c.1410A>T (p.Thr470=) c.1791A>T (p.Thr597=) | gnomAD v4 |
2 | g.48687751T>C | CA426124944 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2046A>G (p.Thr682=) c.*358A>G (n.*358A>G) c.3441+16071T>C (n.3441+16071T>C) c.*790A>G (n.*790A>G) c.1965A>G (p.Thr655=) c.276+16071T>C (n.276+16071T>C) c.*220+6473A>G (n.*220+6473A>G) c.1089A>G (p.Thr363=) c.1116A>G (p.Thr372=) c.1971A>G (p.Thr657=) c.1785A>G (p.Thr595=) c.1704A>G (p.Thr568=) c.1410A>G (p.Thr470=) c.1791A>G (p.Thr597=) | gnomAD v4 |
2 | g.48687751T>G | CA1652941 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2046A>C (p.Thr682=) c.*358A>C (n.*358A>C) c.3441+16071T>G (n.3441+16071T>G) c.*790A>C (n.*790A>C) c.1965A>C (p.Thr655=) c.276+16071T>G (n.276+16071T>G) c.*220+6473A>C (n.*220+6473A>C) c.1089A>C (p.Thr363=) c.1116A>C (p.Thr372=) c.1971A>C (p.Thr657=) c.1785A>C (p.Thr595=) c.1704A>C (p.Thr568=) c.1410A>C (p.Thr470=) c.1791A>C (p.Thr597=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687751T= | CA1248600823 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2046A= (p.Thr682=) c.*358A= (n.*358A=) c.3441+16071T= (n.3441+16071T=) c.*790A= (n.*790A=) c.1965A= (p.Thr655=) c.276+16071T= (n.276+16071T=) c.*220+6473A= (n.*220+6473A=) c.1089A= (p.Thr363=) c.1116A= (p.Thr372=) c.1971A= (p.Thr657=) c.1785A= (p.Thr595=) c.1704A= (p.Thr568=) c.1410A= (p.Thr470=) c.1791A= (p.Thr597=) | |
2 | g.48687752G>A | CA346743030 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2045C>T (p.Thr682Ile) c.*357C>T (n.*357C>T) c.3441+16072G>A (n.3441+16072G>A) c.*789C>T (n.*789C>T) c.1964C>T (p.Thr655Ile) c.276+16072G>A (n.276+16072G>A) c.*220+6472C>T (n.*220+6472C>T) c.1088C>T (p.Thr363Ile) c.1115C>T (p.Thr372Ile) c.1970C>T (p.Thr657Ile) c.1784C>T (p.Thr595Ile) c.1703C>T (p.Thr568Ile) c.1409C>T (p.Thr470Ile) c.1790C>T (p.Thr597Ile) | gnomAD v4 |
2 | g.48687752G>C | CA346743036 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2045C>G (p.Thr682Arg) c.*357C>G (n.*357C>G) c.3441+16072G>C (n.3441+16072G>C) c.*789C>G (n.*789C>G) c.1964C>G (p.Thr655Arg) c.276+16072G>C (n.276+16072G>C) c.*220+6472C>G (n.*220+6472C>G) c.1088C>G (p.Thr363Arg) c.1115C>G (p.Thr372Arg) c.1970C>G (p.Thr657Arg) c.1784C>G (p.Thr595Arg) c.1703C>G (p.Thr568Arg) c.1409C>G (p.Thr470Arg) c.1790C>G (p.Thr597Arg) | gnomAD v4 |
2 | g.48687752G>T | CA346743037 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2045C>A (p.Thr682Lys) c.*357C>A (n.*357C>A) c.3441+16072G>T (n.3441+16072G>T) c.*789C>A (n.*789C>A) c.1964C>A (p.Thr655Lys) c.276+16072G>T (n.276+16072G>T) c.*220+6472C>A (n.*220+6472C>A) c.1088C>A (p.Thr363Lys) c.1115C>A (p.Thr372Lys) c.1970C>A (p.Thr657Lys) c.1784C>A (p.Thr595Lys) c.1703C>A (p.Thr568Lys) c.1409C>A (p.Thr470Lys) c.1790C>A (p.Thr597Lys) | |
2 | g.48687753T>A | CA346743038 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2044A>T (p.Thr682Ser) c.*356A>T (n.*356A>T) c.3441+16073T>A (n.3441+16073T>A) c.*788A>T (n.*788A>T) c.1963A>T (p.Thr655Ser) c.276+16073T>A (n.276+16073T>A) c.*220+6471A>T (n.*220+6471A>T) c.1087A>T (p.Thr363Ser) c.1114A>T (p.Thr372Ser) c.1969A>T (p.Thr657Ser) c.1783A>T (p.Thr595Ser) c.1702A>T (p.Thr568Ser) c.1408A>T (p.Thr470Ser) c.1789A>T (p.Thr597Ser) | |
2 | g.48687753T>C | CA346743040 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2044A>G (p.Thr682Ala) c.*356A>G (n.*356A>G) c.3441+16073T>C (n.3441+16073T>C) c.*788A>G (n.*788A>G) c.1963A>G (p.Thr655Ala) c.276+16073T>C (n.276+16073T>C) c.*220+6471A>G (n.*220+6471A>G) c.1087A>G (p.Thr363Ala) c.1114A>G (p.Thr372Ala) c.1969A>G (p.Thr657Ala) c.1783A>G (p.Thr595Ala) c.1702A>G (p.Thr568Ala) c.1408A>G (p.Thr470Ala) c.1789A>G (p.Thr597Ala) | |
2 | g.48687753T>G | CA346743041 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2044A>C (p.Thr682Pro) c.*356A>C (n.*356A>C) c.3441+16073T>G (n.3441+16073T>G) c.*788A>C (n.*788A>C) c.1963A>C (p.Thr655Pro) c.276+16073T>G (n.276+16073T>G) c.*220+6471A>C (n.*220+6471A>C) c.1087A>C (p.Thr363Pro) c.1114A>C (p.Thr372Pro) c.1969A>C (p.Thr657Pro) c.1783A>C (p.Thr595Pro) c.1702A>C (p.Thr568Pro) c.1408A>C (p.Thr470Pro) c.1789A>C (p.Thr597Pro) | |
2 | g.48687754G>A | CA46752442 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2043C>T (p.Ser681=) c.*355C>T (n.*355C>T) c.3441+16074G>A (n.3441+16074G>A) c.*787C>T (n.*787C>T) c.1962C>T (p.Ser654=) c.276+16074G>A (n.276+16074G>A) c.*220+6470C>T (n.*220+6470C>T) c.1086C>T (p.Ser362=) c.1113C>T (p.Ser371=) c.1968C>T (p.Ser656=) c.1782C>T (p.Ser594=) c.1701C>T (p.Ser567=) c.1407C>T (p.Ser469=) c.1788C>T (p.Ser596=) | dbSNP |
2 | g.48687754G>C | CA426124949 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2043C>G (p.Ser681=) c.*355C>G (n.*355C>G) c.3441+16074G>C (n.3441+16074G>C) c.*787C>G (n.*787C>G) c.1962C>G (p.Ser654=) c.276+16074G>C (n.276+16074G>C) c.*220+6470C>G (n.*220+6470C>G) c.1086C>G (p.Ser362=) c.1113C>G (p.Ser371=) c.1968C>G (p.Ser656=) c.1782C>G (p.Ser594=) c.1701C>G (p.Ser567=) c.1407C>G (p.Ser469=) c.1788C>G (p.Ser596=) | |
2 | g.48687754G= | CA1248600824 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2043C= (p.Ser681=) c.*355C= (n.*355C=) c.3441+16074G= (n.3441+16074G=) c.*787C= (n.*787C=) c.1962C= (p.Ser654=) c.276+16074G= (n.276+16074G=) c.*220+6470C= (n.*220+6470C=) c.1086C= (p.Ser362=) c.1113C= (p.Ser371=) c.1968C= (p.Ser656=) c.1782C= (p.Ser594=) c.1701C= (p.Ser567=) c.1407C= (p.Ser469=) c.1788C= (p.Ser596=) | |
2 | g.48687754G>T | CA426124950 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2043C>A (p.Ser681=) c.*355C>A (n.*355C>A) c.3441+16074G>T (n.3441+16074G>T) c.*787C>A (n.*787C>A) c.1962C>A (p.Ser654=) c.276+16074G>T (n.276+16074G>T) c.*220+6470C>A (n.*220+6470C>A) c.1086C>A (p.Ser362=) c.1113C>A (p.Ser371=) c.1968C>A (p.Ser656=) c.1782C>A (p.Ser594=) c.1701C>A (p.Ser567=) c.1407C>A (p.Ser469=) c.1788C>A (p.Ser596=) | |
2 | g.48687755G>A | CA346743044 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2042C>T (p.Ser681Phe) c.*354C>T (n.*354C>T) c.3441+16075G>A (n.3441+16075G>A) c.*786C>T (n.*786C>T) c.1961C>T (p.Ser654Phe) c.276+16075G>A (n.276+16075G>A) c.*220+6469C>T (n.*220+6469C>T) c.1085C>T (p.Ser362Phe) c.1112C>T (p.Ser371Phe) c.1967C>T (p.Ser656Phe) c.1781C>T (p.Ser594Phe) c.1700C>T (p.Ser567Phe) c.1406C>T (p.Ser469Phe) c.1787C>T (p.Ser596Phe) | gnomAD v4 |
2 | g.48687755G>C | CA346743045 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2042C>G (p.Ser681Cys) c.*354C>G (n.*354C>G) c.3441+16075G>C (n.3441+16075G>C) c.*786C>G (n.*786C>G) c.1961C>G (p.Ser654Cys) c.276+16075G>C (n.276+16075G>C) c.*220+6469C>G (n.*220+6469C>G) c.1085C>G (p.Ser362Cys) c.1112C>G (p.Ser371Cys) c.1967C>G (p.Ser656Cys) c.1781C>G (p.Ser594Cys) c.1700C>G (p.Ser567Cys) c.1406C>G (p.Ser469Cys) c.1787C>G (p.Ser596Cys) | gnomAD v4 |
2 | g.48687755G>T | CA346743047 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2042C>A (p.Ser681Tyr) c.*354C>A (n.*354C>A) c.3441+16075G>T (n.3441+16075G>T) c.*786C>A (n.*786C>A) c.1961C>A (p.Ser654Tyr) c.276+16075G>T (n.276+16075G>T) c.*220+6469C>A (n.*220+6469C>A) c.1085C>A (p.Ser362Tyr) c.1112C>A (p.Ser371Tyr) c.1967C>A (p.Ser656Tyr) c.1781C>A (p.Ser594Tyr) c.1700C>A (p.Ser567Tyr) c.1406C>A (p.Ser469Tyr) c.1787C>A (p.Ser596Tyr) | |
2 | g.48687756A>C | CA346743052 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2041T>G (p.Ser681Ala) c.*353T>G (n.*353T>G) c.3441+16076A>C (n.3441+16076A>C) c.*785T>G (n.*785T>G) c.1960T>G (p.Ser654Ala) c.276+16076A>C (n.276+16076A>C) c.*220+6468T>G (n.*220+6468T>G) c.1084T>G (p.Ser362Ala) c.1111T>G (p.Ser371Ala) c.1966T>G (p.Ser656Ala) c.1780T>G (p.Ser594Ala) c.1699T>G (p.Ser567Ala) c.1405T>G (p.Ser469Ala) c.1786T>G (p.Ser596Ala) | |
2 | g.48687756A>G | CA346743055 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2041T>C (p.Ser681Pro) c.*353T>C (n.*353T>C) c.3441+16076A>G (n.3441+16076A>G) c.*785T>C (n.*785T>C) c.1960T>C (p.Ser654Pro) c.276+16076A>G (n.276+16076A>G) c.*220+6468T>C (n.*220+6468T>C) c.1084T>C (p.Ser362Pro) c.1111T>C (p.Ser371Pro) c.1966T>C (p.Ser656Pro) c.1780T>C (p.Ser594Pro) c.1699T>C (p.Ser567Pro) c.1405T>C (p.Ser469Pro) c.1786T>C (p.Ser596Pro) | |
2 | g.48687756A>T | CA346743051 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2041T>A (p.Ser681Thr) c.*353T>A (n.*353T>A) c.3441+16076A>T (n.3441+16076A>T) c.*785T>A (n.*785T>A) c.1960T>A (p.Ser654Thr) c.276+16076A>T (n.276+16076A>T) c.*220+6468T>A (n.*220+6468T>A) c.1084T>A (p.Ser362Thr) c.1111T>A (p.Ser371Thr) c.1966T>A (p.Ser656Thr) c.1780T>A (p.Ser594Thr) c.1699T>A (p.Ser567Thr) c.1405T>A (p.Ser469Thr) c.1786T>A (p.Ser596Thr) | |
2 | g.48687757C>A | CA346743056 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2040G>T (p.Leu680Phe) c.*352G>T (n.*352G>T) c.3441+16077C>A (n.3441+16077C>A) c.*784G>T (n.*784G>T) c.1959G>T (p.Leu653Phe) c.276+16077C>A (n.276+16077C>A) c.*220+6467G>T (n.*220+6467G>T) c.1083G>T (p.Leu361Phe) c.1110G>T (p.Leu370Phe) c.1965G>T (p.Leu655Phe) c.1779G>T (p.Leu593Phe) c.1698G>T (p.Leu566Phe) c.1404G>T (p.Leu468Phe) c.1785G>T (p.Leu595Phe) | |
2 | g.48687757C>G | CA346743058 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2040G>C (p.Leu680Phe) c.*352G>C (n.*352G>C) c.3441+16077C>G (n.3441+16077C>G) c.*784G>C (n.*784G>C) c.1959G>C (p.Leu653Phe) c.276+16077C>G (n.276+16077C>G) c.*220+6467G>C (n.*220+6467G>C) c.1083G>C (p.Leu361Phe) c.1110G>C (p.Leu370Phe) c.1965G>C (p.Leu655Phe) c.1779G>C (p.Leu593Phe) c.1698G>C (p.Leu566Phe) c.1404G>C (p.Leu468Phe) c.1785G>C (p.Leu595Phe) | |
2 | g.48687757C>T | CA426124954 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2040G>A (p.Leu680=) c.*352G>A (n.*352G>A) c.3441+16077C>T (n.3441+16077C>T) c.*784G>A (n.*784G>A) c.1959G>A (p.Leu653=) c.276+16077C>T (n.276+16077C>T) c.*220+6467G>A (n.*220+6467G>A) c.1083G>A (p.Leu361=) c.1110G>A (p.Leu370=) c.1965G>A (p.Leu655=) c.1779G>A (p.Leu593=) c.1698G>A (p.Leu566=) c.1404G>A (p.Leu468=) c.1785G>A (p.Leu595=) | |
2 | g.48687758A>C | CA346743060 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2039T>G (p.Leu680Trp) c.*351T>G (n.*351T>G) c.3441+16078A>C (n.3441+16078A>C) c.*783T>G (n.*783T>G) c.1958T>G (p.Leu653Trp) c.276+16078A>C (n.276+16078A>C) c.*220+6466T>G (n.*220+6466T>G) c.1082T>G (p.Leu361Trp) c.1109T>G (p.Leu370Trp) c.1964T>G (p.Leu655Trp) c.1778T>G (p.Leu593Trp) c.1697T>G (p.Leu566Trp) c.1403T>G (p.Leu468Trp) c.1784T>G (p.Leu595Trp) | |
2 | g.48687758A>G | CA346743068 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2039T>C (p.Leu680Ser) c.*351T>C (n.*351T>C) c.3441+16078A>G (n.3441+16078A>G) c.*783T>C (n.*783T>C) c.1958T>C (p.Leu653Ser) c.276+16078A>G (n.276+16078A>G) c.*220+6466T>C (n.*220+6466T>C) c.1082T>C (p.Leu361Ser) c.1109T>C (p.Leu370Ser) c.1964T>C (p.Leu655Ser) c.1778T>C (p.Leu593Ser) c.1697T>C (p.Leu566Ser) c.1403T>C (p.Leu468Ser) c.1784T>C (p.Leu595Ser) | |
2 | g.48687758A>T | CA346743063 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2039T>A (p.Leu680Ter) c.*351T>A (n.*351T>A) c.3441+16078A>T (n.3441+16078A>T) c.*783T>A (n.*783T>A) c.1958T>A (p.Leu653Ter) c.276+16078A>T (n.276+16078A>T) c.*220+6466T>A (n.*220+6466T>A) c.1082T>A (p.Leu361Ter) c.1109T>A (p.Leu370Ter) c.1964T>A (p.Leu655Ter) c.1778T>A (p.Leu593Ter) c.1697T>A (p.Leu566Ter) c.1403T>A (p.Leu468Ter) c.1784T>A (p.Leu595Ter) | |
2 | g.48687759A= | CA1248600825 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2038T= (p.Leu680=) c.*350T= (n.*350T=) c.3441+16079A= (n.3441+16079A=) c.*782T= (n.*782T=) c.1957T= (p.Leu653=) c.276+16079A= (n.276+16079A=) c.*220+6465T= (n.*220+6465T=) c.1081T= (p.Leu361=) c.1108T= (p.Leu370=) c.1963T= (p.Leu655=) c.1777T= (p.Leu593=) c.1696T= (p.Leu566=) c.1402T= (p.Leu468=) c.1783T= (p.Leu595=) | |
2 | g.48687759A>C | CA346743071 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2038T>G (p.Leu680Val) c.*350T>G (n.*350T>G) c.3441+16079A>C (n.3441+16079A>C) c.*782T>G (n.*782T>G) c.1957T>G (p.Leu653Val) c.276+16079A>C (n.276+16079A>C) c.*220+6465T>G (n.*220+6465T>G) c.1081T>G (p.Leu361Val) c.1108T>G (p.Leu370Val) c.1963T>G (p.Leu655Val) c.1777T>G (p.Leu593Val) c.1696T>G (p.Leu566Val) c.1402T>G (p.Leu468Val) c.1783T>G (p.Leu595Val) | |
2 | g.48687759A>G | CA426124959 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2038T>C (p.Leu680=) c.*350T>C (n.*350T>C) c.3441+16079A>G (n.3441+16079A>G) c.*782T>C (n.*782T>C) c.1957T>C (p.Leu653=) c.276+16079A>G (n.276+16079A>G) c.*220+6465T>C (n.*220+6465T>C) c.1081T>C (p.Leu361=) c.1108T>C (p.Leu370=) c.1963T>C (p.Leu655=) c.1777T>C (p.Leu593=) c.1696T>C (p.Leu566=) c.1402T>C (p.Leu468=) c.1783T>C (p.Leu595=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687759A>T | CA346743074 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2038T>A (p.Leu680Met) c.*350T>A (n.*350T>A) c.3441+16079A>T (n.3441+16079A>T) c.*782T>A (n.*782T>A) c.1957T>A (p.Leu653Met) c.276+16079A>T (n.276+16079A>T) c.*220+6465T>A (n.*220+6465T>A) c.1081T>A (p.Leu361Met) c.1108T>A (p.Leu370Met) c.1963T>A (p.Leu655Met) c.1777T>A (p.Leu593Met) c.1696T>A (p.Leu566Met) c.1402T>A (p.Leu468Met) c.1783T>A (p.Leu595Met) | |
2 | g.48687760C>A | CA346743076 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2037G>T (p.Lys679Asn) c.*349G>T (n.*349G>T) c.3441+16080C>A (n.3441+16080C>A) c.*781G>T (n.*781G>T) c.1956G>T (p.Lys652Asn) c.276+16080C>A (n.276+16080C>A) c.*220+6464G>T (n.*220+6464G>T) c.1080G>T (p.Lys360Asn) c.1107G>T (p.Lys369Asn) c.1962G>T (p.Lys654Asn) c.1776G>T (p.Lys592Asn) c.1695G>T (p.Lys565Asn) c.1401G>T (p.Lys467Asn) c.1782G>T (p.Lys594Asn) | dbSNP gnomAD v4 |
2 | g.48687760C= | CA1248600826 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2037G= (p.Lys679=) c.*349G= (n.*349G=) c.3441+16080C= (n.3441+16080C=) c.*781G= (n.*781G=) c.1956G= (p.Lys652=) c.276+16080C= (n.276+16080C=) c.*220+6464G= (n.*220+6464G=) c.1080G= (p.Lys360=) c.1107G= (p.Lys369=) c.1962G= (p.Lys654=) c.1776G= (p.Lys592=) c.1695G= (p.Lys565=) c.1401G= (p.Lys467=) c.1782G= (p.Lys594=) | |
2 | g.48687760C>G | CA346743078 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2037G>C (p.Lys679Asn) c.*349G>C (n.*349G>C) c.3441+16080C>G (n.3441+16080C>G) c.*781G>C (n.*781G>C) c.1956G>C (p.Lys652Asn) c.276+16080C>G (n.276+16080C>G) c.*220+6464G>C (n.*220+6464G>C) c.1080G>C (p.Lys360Asn) c.1107G>C (p.Lys369Asn) c.1962G>C (p.Lys654Asn) c.1776G>C (p.Lys592Asn) c.1695G>C (p.Lys565Asn) c.1401G>C (p.Lys467Asn) c.1782G>C (p.Lys594Asn) | |
2 | g.48687760C>T | CA1652942 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2037G>A (p.Lys679=) c.*349G>A (n.*349G>A) c.3441+16080C>T (n.3441+16080C>T) c.*781G>A (n.*781G>A) c.1956G>A (p.Lys652=) c.276+16080C>T (n.276+16080C>T) c.*220+6464G>A (n.*220+6464G>A) c.1080G>A (p.Lys360=) c.1107G>A (p.Lys369=) c.1962G>A (p.Lys654=) c.1776G>A (p.Lys592=) c.1695G>A (p.Lys565=) c.1401G>A (p.Lys467=) c.1782G>A (p.Lys594=) | dbSNP ExAC gnomAD v2 |
2 | g.48687761_48687763del | CA645522020 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2035_2037del (p.Lys679del) c.*347_*349del (n.*347_*349del) c.3441+16081_3441+16083del (n.3441+16081_3441+16083del) c.*779_*781del (n.*779_*781del) c.1954_1956del (p.Lys652del) c.276+16081_276+16083del (n.276+16081_276+16083del) c.*220+6462_*220+6464del (n.*220+6462_*220+6464del) c.1078_1080del (p.Lys360del) c.1105_1107del (p.Lys369del) c.1960_1962del (p.Lys654del) c.1774_1776del (p.Lys592del) c.1693_1695del (p.Lys565del) c.1399_1401del (p.Lys467del) c.1780_1782del (p.Lys594del) | COSMIC |
2 | g.48687761T>A | CA346743085 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2036A>T (p.Lys679Met) c.*348A>T (n.*348A>T) c.3441+16081T>A (n.3441+16081T>A) c.*780A>T (n.*780A>T) c.1955A>T (p.Lys652Met) c.276+16081T>A (n.276+16081T>A) c.*220+6463A>T (n.*220+6463A>T) c.1079A>T (p.Lys360Met) c.1106A>T (p.Lys369Met) c.1961A>T (p.Lys654Met) c.1775A>T (p.Lys592Met) c.1694A>T (p.Lys565Met) c.1400A>T (p.Lys467Met) c.1781A>T (p.Lys594Met) | |
2 | g.48687761T>C | CA346743088 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2036A>G (p.Lys679Arg) c.*348A>G (n.*348A>G) c.3441+16081T>C (n.3441+16081T>C) c.*780A>G (n.*780A>G) c.1955A>G (p.Lys652Arg) c.276+16081T>C (n.276+16081T>C) c.*220+6463A>G (n.*220+6463A>G) c.1079A>G (p.Lys360Arg) c.1106A>G (p.Lys369Arg) c.1961A>G (p.Lys654Arg) c.1775A>G (p.Lys592Arg) c.1694A>G (p.Lys565Arg) c.1400A>G (p.Lys467Arg) c.1781A>G (p.Lys594Arg) | gnomAD v4 |
2 | g.48687761T>G | CA346743090 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2036A>C (p.Lys679Thr) c.*348A>C (n.*348A>C) c.3441+16081T>G (n.3441+16081T>G) c.*780A>C (n.*780A>C) c.1955A>C (p.Lys652Thr) c.276+16081T>G (n.276+16081T>G) c.*220+6463A>C (n.*220+6463A>C) c.1079A>C (p.Lys360Thr) c.1106A>C (p.Lys369Thr) c.1961A>C (p.Lys654Thr) c.1775A>C (p.Lys592Thr) c.1694A>C (p.Lys565Thr) c.1400A>C (p.Lys467Thr) c.1781A>C (p.Lys594Thr) | |
2 | g.48687762T>A | CA346743094 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2035A>T (p.Lys679Ter) c.*347A>T (n.*347A>T) c.3441+16082T>A (n.3441+16082T>A) c.*779A>T (n.*779A>T) c.1954A>T (p.Lys652Ter) c.276+16082T>A (n.276+16082T>A) c.*220+6462A>T (n.*220+6462A>T) c.1078A>T (p.Lys360Ter) c.1105A>T (p.Lys369Ter) c.1960A>T (p.Lys654Ter) c.1774A>T (p.Lys592Ter) c.1693A>T (p.Lys565Ter) c.1399A>T (p.Lys467Ter) c.1780A>T (p.Lys594Ter) | |
2 | g.48687762T>C | CA346743095 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2035A>G (p.Lys679Glu) c.*347A>G (n.*347A>G) c.3441+16082T>C (n.3441+16082T>C) c.*779A>G (n.*779A>G) c.1954A>G (p.Lys652Glu) c.276+16082T>C (n.276+16082T>C) c.*220+6462A>G (n.*220+6462A>G) c.1078A>G (p.Lys360Glu) c.1105A>G (p.Lys369Glu) c.1960A>G (p.Lys654Glu) c.1774A>G (p.Lys592Glu) c.1693A>G (p.Lys565Glu) c.1399A>G (p.Lys467Glu) c.1780A>G (p.Lys594Glu) | |
2 | g.48687762T>G | CA346743096 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2035A>C (p.Lys679Gln) c.*347A>C (n.*347A>C) c.3441+16082T>G (n.3441+16082T>G) c.*779A>C (n.*779A>C) c.1954A>C (p.Lys652Gln) c.276+16082T>G (n.276+16082T>G) c.*220+6462A>C (n.*220+6462A>C) c.1078A>C (p.Lys360Gln) c.1105A>C (p.Lys369Gln) c.1960A>C (p.Lys654Gln) c.1774A>C (p.Lys592Gln) c.1693A>C (p.Lys565Gln) c.1399A>C (p.Lys467Gln) c.1780A>C (p.Lys594Gln) | |
2 | g.48687762T= | CA1248600827 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2035A= (p.Lys679=) c.*347A= (n.*347A=) c.3441+16082T= (n.3441+16082T=) c.*779A= (n.*779A=) c.1954A= (p.Lys652=) c.276+16082T= (n.276+16082T=) c.*220+6462A= (n.*220+6462A=) c.1078A= (p.Lys360=) c.1105A= (p.Lys369=) c.1960A= (p.Lys654=) c.1774A= (p.Lys592=) c.1693A= (p.Lys565=) c.1399A= (p.Lys467=) c.1780A= (p.Lys594=) | |
2 | g.48687762_48687763insA | CA1652943 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2034_2035insT (p.Lys679Ter) c.*346_*347insT (n.*346_*347insT) c.3441+16082_3441+16083insA (n.3441+16082_3441+16083insA) c.*778_*779insT (n.*778_*779insT) c.1953_1954insT (p.Lys652Ter) c.276+16082_276+16083insA (n.276+16082_276+16083insA) c.*220+6461_*220+6462insT (n.*220+6461_*220+6462insT) c.1077_1078insT (p.Lys360Ter) c.1104_1105insT (p.Lys369Ter) c.1959_1960insT (p.Lys654Ter) c.1773_1774insT (p.Lys592Ter) c.1692_1693insT (p.Lys565Ter) c.1398_1399insT (p.Lys467Ter) c.1779_1780insT (p.Lys594Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687763C>A | CA1652944 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2034G>T (p.Leu678Phe) c.*346G>T (n.*346G>T) c.3441+16083C>A (n.3441+16083C>A) c.*778G>T (n.*778G>T) c.1953G>T (p.Leu651Phe) c.276+16083C>A (n.276+16083C>A) c.*220+6461G>T (n.*220+6461G>T) c.1077G>T (p.Leu359Phe) c.1104G>T (p.Leu368Phe) c.1959G>T (p.Leu653Phe) c.1773G>T (p.Leu591Phe) c.1692G>T (p.Leu564Phe) c.1398G>T (p.Leu466Phe) c.1779G>T (p.Leu593Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687763C= | CA1248600828 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2034G= (p.Leu678=) c.*346G= (n.*346G=) c.3441+16083C= (n.3441+16083C=) c.*778G= (n.*778G=) c.1953G= (p.Leu651=) c.276+16083C= (n.276+16083C=) c.*220+6461G= (n.*220+6461G=) c.1077G= (p.Leu359=) c.1104G= (p.Leu368=) c.1959G= (p.Leu653=) c.1773G= (p.Leu591=) c.1692G= (p.Leu564=) c.1398G= (p.Leu466=) c.1779G= (p.Leu593=) | |
2 | g.48687763C>G | CA346743098 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2034G>C (p.Leu678Phe) c.*346G>C (n.*346G>C) c.3441+16083C>G (n.3441+16083C>G) c.*778G>C (n.*778G>C) c.1953G>C (p.Leu651Phe) c.276+16083C>G (n.276+16083C>G) c.*220+6461G>C (n.*220+6461G>C) c.1077G>C (p.Leu359Phe) c.1104G>C (p.Leu368Phe) c.1959G>C (p.Leu653Phe) c.1773G>C (p.Leu591Phe) c.1692G>C (p.Leu564Phe) c.1398G>C (p.Leu466Phe) c.1779G>C (p.Leu593Phe) | |
2 | g.48687763C>T | CA426124968 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2034G>A (p.Leu678=) c.*346G>A (n.*346G>A) c.3441+16083C>T (n.3441+16083C>T) c.*778G>A (n.*778G>A) c.1953G>A (p.Leu651=) c.276+16083C>T (n.276+16083C>T) c.*220+6461G>A (n.*220+6461G>A) c.1077G>A (p.Leu359=) c.1104G>A (p.Leu368=) c.1959G>A (p.Leu653=) c.1773G>A (p.Leu591=) c.1692G>A (p.Leu564=) c.1398G>A (p.Leu466=) c.1779G>A (p.Leu593=) | |
2 | g.48687764A>C | CA346743101 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2033T>G (p.Leu678Trp) c.*345T>G (n.*345T>G) c.3441+16084A>C (n.3441+16084A>C) c.*777T>G (n.*777T>G) c.1952T>G (p.Leu651Trp) c.276+16084A>C (n.276+16084A>C) c.*220+6460T>G (n.*220+6460T>G) c.1076T>G (p.Leu359Trp) c.1103T>G (p.Leu368Trp) c.1958T>G (p.Leu653Trp) c.1772T>G (p.Leu591Trp) c.1691T>G (p.Leu564Trp) c.1397T>G (p.Leu466Trp) c.1778T>G (p.Leu593Trp) | |
2 | g.48687764A>G | CA346743102 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2033T>C (p.Leu678Ser) c.*345T>C (n.*345T>C) c.3441+16084A>G (n.3441+16084A>G) c.*777T>C (n.*777T>C) c.1952T>C (p.Leu651Ser) c.276+16084A>G (n.276+16084A>G) c.*220+6460T>C (n.*220+6460T>C) c.1076T>C (p.Leu359Ser) c.1103T>C (p.Leu368Ser) c.1958T>C (p.Leu653Ser) c.1772T>C (p.Leu591Ser) c.1691T>C (p.Leu564Ser) c.1397T>C (p.Leu466Ser) c.1778T>C (p.Leu593Ser) | |
2 | g.48687764A>T | CA346743103 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2033T>A (p.Leu678Ter) c.*345T>A (n.*345T>A) c.3441+16084A>T (n.3441+16084A>T) c.*777T>A (n.*777T>A) c.1952T>A (p.Leu651Ter) c.276+16084A>T (n.276+16084A>T) c.*220+6460T>A (n.*220+6460T>A) c.1076T>A (p.Leu359Ter) c.1103T>A (p.Leu368Ter) c.1958T>A (p.Leu653Ter) c.1772T>A (p.Leu591Ter) c.1691T>A (p.Leu564Ter) c.1397T>A (p.Leu466Ter) c.1778T>A (p.Leu593Ter) | |
2 | g.48687765A>C | CA346743104 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2032T>G (p.Leu678Val) c.*344T>G (n.*344T>G) c.3441+16085A>C (n.3441+16085A>C) c.*776T>G (n.*776T>G) c.1951T>G (p.Leu651Val) c.276+16085A>C (n.276+16085A>C) c.*220+6459T>G (n.*220+6459T>G) c.1075T>G (p.Leu359Val) c.1102T>G (p.Leu368Val) c.1957T>G (p.Leu653Val) c.1771T>G (p.Leu591Val) c.1690T>G (p.Leu564Val) c.1396T>G (p.Leu466Val) c.1777T>G (p.Leu593Val) | |
2 | g.48687765A>G | CA426124973 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2032T>C (p.Leu678=) c.*344T>C (n.*344T>C) c.3441+16085A>G (n.3441+16085A>G) c.*776T>C (n.*776T>C) c.1951T>C (p.Leu651=) c.276+16085A>G (n.276+16085A>G) c.*220+6459T>C (n.*220+6459T>C) c.1075T>C (p.Leu359=) c.1102T>C (p.Leu368=) c.1957T>C (p.Leu653=) c.1771T>C (p.Leu591=) c.1690T>C (p.Leu564=) c.1396T>C (p.Leu466=) c.1777T>C (p.Leu593=) | gnomAD v4 |
2 | g.48687765A>T | CA346743105 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2032T>A (p.Leu678Met) c.*344T>A (n.*344T>A) c.3441+16085A>T (n.3441+16085A>T) c.*776T>A (n.*776T>A) c.1951T>A (p.Leu651Met) c.276+16085A>T (n.276+16085A>T) c.*220+6459T>A (n.*220+6459T>A) c.1075T>A (p.Leu359Met) c.1102T>A (p.Leu368Met) c.1957T>A (p.Leu653Met) c.1771T>A (p.Leu591Met) c.1690T>A (p.Leu564Met) c.1396T>A (p.Leu466Met) c.1777T>A (p.Leu593Met) | |
2 | g.48687766G>A | CA426124974 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2031C>T (p.Thr677=) c.*343C>T (n.*343C>T) c.3441+16086G>A (n.3441+16086G>A) c.*775C>T (n.*775C>T) c.1950C>T (p.Thr650=) c.276+16086G>A (n.276+16086G>A) c.*220+6458C>T (n.*220+6458C>T) c.1074C>T (p.Thr358=) c.1101C>T (p.Thr367=) c.1956C>T (p.Thr652=) c.1770C>T (p.Thr590=) c.1689C>T (p.Thr563=) c.1395C>T (p.Thr465=) c.1776C>T (p.Thr592=) | |
2 | g.48687766G>C | CA1652945 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2031C>G (p.Thr677=) c.*343C>G (n.*343C>G) c.3441+16086G>C (n.3441+16086G>C) c.*775C>G (n.*775C>G) c.1950C>G (p.Thr650=) c.276+16086G>C (n.276+16086G>C) c.*220+6458C>G (n.*220+6458C>G) c.1074C>G (p.Thr358=) c.1101C>G (p.Thr367=) c.1956C>G (p.Thr652=) c.1770C>G (p.Thr590=) c.1689C>G (p.Thr563=) c.1395C>G (p.Thr465=) c.1776C>G (p.Thr592=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687766G= | CA1248600829 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2031C= (p.Thr677=) c.*343C= (n.*343C=) c.3441+16086G= (n.3441+16086G=) c.*775C= (n.*775C=) c.1950C= (p.Thr650=) c.276+16086G= (n.276+16086G=) c.*220+6458C= (n.*220+6458C=) c.1074C= (p.Thr358=) c.1101C= (p.Thr367=) c.1956C= (p.Thr652=) c.1770C= (p.Thr590=) c.1689C= (p.Thr563=) c.1395C= (p.Thr465=) c.1776C= (p.Thr592=) | |
2 | g.48687766G>T | CA426124975 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2031C>A (p.Thr677=) c.*343C>A (n.*343C>A) c.3441+16086G>T (n.3441+16086G>T) c.*775C>A (n.*775C>A) c.1950C>A (p.Thr650=) c.276+16086G>T (n.276+16086G>T) c.*220+6458C>A (n.*220+6458C>A) c.1074C>A (p.Thr358=) c.1101C>A (p.Thr367=) c.1956C>A (p.Thr652=) c.1770C>A (p.Thr590=) c.1689C>A (p.Thr563=) c.1395C>A (p.Thr465=) c.1776C>A (p.Thr592=) | |
2 | g.48687767G>A | CA346743109 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2030C>T (p.Thr677Ile) c.*342C>T (n.*342C>T) c.3441+16087G>A (n.3441+16087G>A) c.*774C>T (n.*774C>T) c.1949C>T (p.Thr650Ile) c.276+16087G>A (n.276+16087G>A) c.*220+6457C>T (n.*220+6457C>T) c.1073C>T (p.Thr358Ile) c.1100C>T (p.Thr367Ile) c.1955C>T (p.Thr652Ile) c.1769C>T (p.Thr590Ile) c.1688C>T (p.Thr563Ile) c.1394C>T (p.Thr465Ile) c.1775C>T (p.Thr592Ile) | |
2 | g.48687767G>C | CA346743111 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2030C>G (p.Thr677Ser) c.*342C>G (n.*342C>G) c.3441+16087G>C (n.3441+16087G>C) c.*774C>G (n.*774C>G) c.1949C>G (p.Thr650Ser) c.276+16087G>C (n.276+16087G>C) c.*220+6457C>G (n.*220+6457C>G) c.1073C>G (p.Thr358Ser) c.1100C>G (p.Thr367Ser) c.1955C>G (p.Thr652Ser) c.1769C>G (p.Thr590Ser) c.1688C>G (p.Thr563Ser) c.1394C>G (p.Thr465Ser) c.1775C>G (p.Thr592Ser) | COSMIC |
2 | g.48687767G>T | CA346743112 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2030C>A (p.Thr677Asn) c.*342C>A (n.*342C>A) c.3441+16087G>T (n.3441+16087G>T) c.*774C>A (n.*774C>A) c.1949C>A (p.Thr650Asn) c.276+16087G>T (n.276+16087G>T) c.*220+6457C>A (n.*220+6457C>A) c.1073C>A (p.Thr358Asn) c.1100C>A (p.Thr367Asn) c.1955C>A (p.Thr652Asn) c.1769C>A (p.Thr590Asn) c.1688C>A (p.Thr563Asn) c.1394C>A (p.Thr465Asn) c.1775C>A (p.Thr592Asn) | |
2 | g.48687768T>A | CA346743116 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2029A>T (p.Thr677Ser) c.*341A>T (n.*341A>T) c.3441+16088T>A (n.3441+16088T>A) c.*773A>T (n.*773A>T) c.1948A>T (p.Thr650Ser) c.276+16088T>A (n.276+16088T>A) c.*220+6456A>T (n.*220+6456A>T) c.1072A>T (p.Thr358Ser) c.1099A>T (p.Thr367Ser) c.1954A>T (p.Thr652Ser) c.1768A>T (p.Thr590Ser) c.1687A>T (p.Thr563Ser) c.1393A>T (p.Thr465Ser) c.1774A>T (p.Thr592Ser) | gnomAD v4 |
2 | g.48687768T>C | CA346743122 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2029A>G (p.Thr677Ala) c.*341A>G (n.*341A>G) c.3441+16088T>C (n.3441+16088T>C) c.*773A>G (n.*773A>G) c.1948A>G (p.Thr650Ala) c.276+16088T>C (n.276+16088T>C) c.*220+6456A>G (n.*220+6456A>G) c.1072A>G (p.Thr358Ala) c.1099A>G (p.Thr367Ala) c.1954A>G (p.Thr652Ala) c.1768A>G (p.Thr590Ala) c.1687A>G (p.Thr563Ala) c.1393A>G (p.Thr465Ala) c.1774A>G (p.Thr592Ala) | dbSNP |
2 | g.48687768T>G | CA346743124 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2029A>C (p.Thr677Pro) c.*341A>C (n.*341A>C) c.3441+16088T>G (n.3441+16088T>G) c.*773A>C (n.*773A>C) c.1948A>C (p.Thr650Pro) c.276+16088T>G (n.276+16088T>G) c.*220+6456A>C (n.*220+6456A>C) c.1072A>C (p.Thr358Pro) c.1099A>C (p.Thr367Pro) c.1954A>C (p.Thr652Pro) c.1768A>C (p.Thr590Pro) c.1687A>C (p.Thr563Pro) c.1393A>C (p.Thr465Pro) c.1774A>C (p.Thr592Pro) | |
2 | g.48687769G>A | CA46752464 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2028C>T (p.Ser676=) c.*340C>T (n.*340C>T) c.3441+16089G>A (n.3441+16089G>A) c.*772C>T (n.*772C>T) c.1947C>T (p.Ser649=) c.276+16089G>A (n.276+16089G>A) c.*220+6455C>T (n.*220+6455C>T) c.1071C>T (p.Ser357=) c.1098C>T (p.Ser366=) c.1953C>T (p.Ser651=) c.1767C>T (p.Ser589=) c.1686C>T (p.Ser562=) c.1392C>T (p.Ser464=) c.1773C>T (p.Ser591=) | dbSNP gnomAD v4 COSMIC |
2 | g.48687769G>C | CA426124983 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2028C>G (p.Ser676=) c.*340C>G (n.*340C>G) c.3441+16089G>C (n.3441+16089G>C) c.*772C>G (n.*772C>G) c.1947C>G (p.Ser649=) c.276+16089G>C (n.276+16089G>C) c.*220+6455C>G (n.*220+6455C>G) c.1071C>G (p.Ser357=) c.1098C>G (p.Ser366=) c.1953C>G (p.Ser651=) c.1767C>G (p.Ser589=) c.1686C>G (p.Ser562=) c.1392C>G (p.Ser464=) c.1773C>G (p.Ser591=) | |
2 | g.48687769G= | CA1248600830 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2028C= (p.Ser676=) c.*340C= (n.*340C=) c.3441+16089G= (n.3441+16089G=) c.*772C= (n.*772C=) c.1947C= (p.Ser649=) c.276+16089G= (n.276+16089G=) c.*220+6455C= (n.*220+6455C=) c.1071C= (p.Ser357=) c.1098C= (p.Ser366=) c.1953C= (p.Ser651=) c.1767C= (p.Ser589=) c.1686C= (p.Ser562=) c.1392C= (p.Ser464=) c.1773C= (p.Ser591=) | |
2 | g.48687769G>T | CA426124984 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2028C>A (p.Ser676=) c.*340C>A (n.*340C>A) c.3441+16089G>T (n.3441+16089G>T) c.*772C>A (n.*772C>A) c.1947C>A (p.Ser649=) c.276+16089G>T (n.276+16089G>T) c.*220+6455C>A (n.*220+6455C>A) c.1071C>A (p.Ser357=) c.1098C>A (p.Ser366=) c.1953C>A (p.Ser651=) c.1767C>A (p.Ser589=) c.1686C>A (p.Ser562=) c.1392C>A (p.Ser464=) c.1773C>A (p.Ser591=) | |
2 | g.48687770G>A | CA346743141 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2027C>T (p.Ser676Phe) c.*339C>T (n.*339C>T) c.3441+16090G>A (n.3441+16090G>A) c.*771C>T (n.*771C>T) c.1946C>T (p.Ser649Phe) c.276+16090G>A (n.276+16090G>A) c.*220+6454C>T (n.*220+6454C>T) c.1070C>T (p.Ser357Phe) c.1097C>T (p.Ser366Phe) c.1952C>T (p.Ser651Phe) c.1766C>T (p.Ser589Phe) c.1685C>T (p.Ser562Phe) c.1391C>T (p.Ser464Phe) c.1772C>T (p.Ser591Phe) | COSMIC |
2 | g.48687770G>C | CA346743136 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2027C>G (p.Ser676Cys) c.*339C>G (n.*339C>G) c.3441+16090G>C (n.3441+16090G>C) c.*771C>G (n.*771C>G) c.1946C>G (p.Ser649Cys) c.276+16090G>C (n.276+16090G>C) c.*220+6454C>G (n.*220+6454C>G) c.1070C>G (p.Ser357Cys) c.1097C>G (p.Ser366Cys) c.1952C>G (p.Ser651Cys) c.1766C>G (p.Ser589Cys) c.1685C>G (p.Ser562Cys) c.1391C>G (p.Ser464Cys) c.1772C>G (p.Ser591Cys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48687770G= | CA1248600831 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2027C= (p.Ser676=) c.*339C= (n.*339C=) c.3441+16090G= (n.3441+16090G=) c.*771C= (n.*771C=) c.1946C= (p.Ser649=) c.276+16090G= (n.276+16090G=) c.*220+6454C= (n.*220+6454C=) c.1070C= (p.Ser357=) c.1097C= (p.Ser366=) c.1952C= (p.Ser651=) c.1766C= (p.Ser589=) c.1685C= (p.Ser562=) c.1391C= (p.Ser464=) c.1772C= (p.Ser591=) | |
2 | g.48687770G>T | CA346743139 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2027C>A (p.Ser676Tyr) c.*339C>A (n.*339C>A) c.3441+16090G>T (n.3441+16090G>T) c.*771C>A (n.*771C>A) c.1946C>A (p.Ser649Tyr) c.276+16090G>T (n.276+16090G>T) c.*220+6454C>A (n.*220+6454C>A) c.1070C>A (p.Ser357Tyr) c.1097C>A (p.Ser366Tyr) c.1952C>A (p.Ser651Tyr) c.1766C>A (p.Ser589Tyr) c.1685C>A (p.Ser562Tyr) c.1391C>A (p.Ser464Tyr) c.1772C>A (p.Ser591Tyr) | |
2 | g.48687771A>C | CA346743145 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2026T>G (p.Ser676Ala) c.*338T>G (n.*338T>G) c.3441+16091A>C (n.3441+16091A>C) c.*770T>G (n.*770T>G) c.1945T>G (p.Ser649Ala) c.276+16091A>C (n.276+16091A>C) c.*220+6453T>G (n.*220+6453T>G) c.1069T>G (p.Ser357Ala) c.1096T>G (p.Ser366Ala) c.1951T>G (p.Ser651Ala) c.1765T>G (p.Ser589Ala) c.1684T>G (p.Ser562Ala) c.1390T>G (p.Ser464Ala) c.1771T>G (p.Ser591Ala) | |
2 | g.48687771A>G | CA346743147 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2026T>C (p.Ser676Pro) c.*338T>C (n.*338T>C) c.3441+16091A>G (n.3441+16091A>G) c.*770T>C (n.*770T>C) c.1945T>C (p.Ser649Pro) c.276+16091A>G (n.276+16091A>G) c.*220+6453T>C (n.*220+6453T>C) c.1069T>C (p.Ser357Pro) c.1096T>C (p.Ser366Pro) c.1951T>C (p.Ser651Pro) c.1765T>C (p.Ser589Pro) c.1684T>C (p.Ser562Pro) c.1390T>C (p.Ser464Pro) c.1771T>C (p.Ser591Pro) | |
2 | g.48687771A>T | CA346743151 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2026T>A (p.Ser676Thr) c.*338T>A (n.*338T>A) c.3441+16091A>T (n.3441+16091A>T) c.*770T>A (n.*770T>A) c.1945T>A (p.Ser649Thr) c.276+16091A>T (n.276+16091A>T) c.*220+6453T>A (n.*220+6453T>A) c.1069T>A (p.Ser357Thr) c.1096T>A (p.Ser366Thr) c.1951T>A (p.Ser651Thr) c.1765T>A (p.Ser589Thr) c.1684T>A (p.Ser562Thr) c.1390T>A (p.Ser464Thr) c.1771T>A (p.Ser591Thr) | |
2 | g.48687772T>A | CA346743153 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2025A>T (p.Gln675His) c.*337A>T (n.*337A>T) c.3441+16092T>A (n.3441+16092T>A) c.*769A>T (n.*769A>T) c.1944A>T (p.Gln648His) c.276+16092T>A (n.276+16092T>A) c.*220+6452A>T (n.*220+6452A>T) c.1068A>T (p.Gln356His) c.1095A>T (p.Gln365His) c.1950A>T (p.Gln650His) c.1764A>T (p.Gln588His) c.1683A>T (p.Gln561His) c.1389A>T (p.Gln463His) c.1770A>T (p.Gln590His) | |
2 | g.48687772T>C | CA46752467 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2025A>G (p.Gln675=) c.*337A>G (n.*337A>G) c.3441+16092T>C (n.3441+16092T>C) c.*769A>G (n.*769A>G) c.1944A>G (p.Gln648=) c.276+16092T>C (n.276+16092T>C) c.*220+6452A>G (n.*220+6452A>G) c.1068A>G (p.Gln356=) c.1095A>G (p.Gln365=) c.1950A>G (p.Gln650=) c.1764A>G (p.Gln588=) c.1683A>G (p.Gln561=) c.1389A>G (p.Gln463=) c.1770A>G (p.Gln590=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687772T>G | CA346743154 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2025A>C (p.Gln675His) c.*337A>C (n.*337A>C) c.3441+16092T>G (n.3441+16092T>G) c.*769A>C (n.*769A>C) c.1944A>C (p.Gln648His) c.276+16092T>G (n.276+16092T>G) c.*220+6452A>C (n.*220+6452A>C) c.1068A>C (p.Gln356His) c.1095A>C (p.Gln365His) c.1950A>C (p.Gln650His) c.1764A>C (p.Gln588His) c.1683A>C (p.Gln561His) c.1389A>C (p.Gln463His) c.1770A>C (p.Gln590His) | |
2 | g.48687772T= | CA1248600832 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2025A= (p.Gln675=) c.*337A= (n.*337A=) c.3441+16092T= (n.3441+16092T=) c.*769A= (n.*769A=) c.1944A= (p.Gln648=) c.276+16092T= (n.276+16092T=) c.*220+6452A= (n.*220+6452A=) c.1068A= (p.Gln356=) c.1095A= (p.Gln365=) c.1950A= (p.Gln650=) c.1764A= (p.Gln588=) c.1683A= (p.Gln561=) c.1389A= (p.Gln463=) c.1770A= (p.Gln590=) | |
2 | g.48687773T>A | CA346743156 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2024A>T (p.Gln675Leu) c.*336A>T (n.*336A>T) c.3441+16093T>A (n.3441+16093T>A) c.*768A>T (n.*768A>T) c.1943A>T (p.Gln648Leu) c.276+16093T>A (n.276+16093T>A) c.*220+6451A>T (n.*220+6451A>T) c.1067A>T (p.Gln356Leu) c.1094A>T (p.Gln365Leu) c.1949A>T (p.Gln650Leu) c.1763A>T (p.Gln588Leu) c.1682A>T (p.Gln561Leu) c.1388A>T (p.Gln463Leu) c.1769A>T (p.Gln590Leu) | |
2 | g.48687773T>C | CA346743159 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2024A>G (p.Gln675Arg) c.*336A>G (n.*336A>G) c.3441+16093T>C (n.3441+16093T>C) c.*768A>G (n.*768A>G) c.1943A>G (p.Gln648Arg) c.276+16093T>C (n.276+16093T>C) c.*220+6451A>G (n.*220+6451A>G) c.1067A>G (p.Gln356Arg) c.1094A>G (p.Gln365Arg) c.1949A>G (p.Gln650Arg) c.1763A>G (p.Gln588Arg) c.1682A>G (p.Gln561Arg) c.1388A>G (p.Gln463Arg) c.1769A>G (p.Gln590Arg) | |
2 | g.48687773T>G | CA346743165 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2024A>C (p.Gln675Pro) c.*336A>C (n.*336A>C) c.3441+16093T>G (n.3441+16093T>G) c.*768A>C (n.*768A>C) c.1943A>C (p.Gln648Pro) c.276+16093T>G (n.276+16093T>G) c.*220+6451A>C (n.*220+6451A>C) c.1067A>C (p.Gln356Pro) c.1094A>C (p.Gln365Pro) c.1949A>C (p.Gln650Pro) c.1763A>C (p.Gln588Pro) c.1682A>C (p.Gln561Pro) c.1388A>C (p.Gln463Pro) c.1769A>C (p.Gln590Pro) | gnomAD v4 |
2 | g.48687774G>A | CA346743168 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2023C>T (p.Gln675Ter) c.*335C>T (n.*335C>T) c.3441+16094G>A (n.3441+16094G>A) c.*767C>T (n.*767C>T) c.1942C>T (p.Gln648Ter) c.276+16094G>A (n.276+16094G>A) c.*220+6450C>T (n.*220+6450C>T) c.1066C>T (p.Gln356Ter) c.1093C>T (p.Gln365Ter) c.1948C>T (p.Gln650Ter) c.1762C>T (p.Gln588Ter) c.1681C>T (p.Gln561Ter) c.1387C>T (p.Gln463Ter) c.1768C>T (p.Gln590Ter) | gnomAD v4 |
2 | g.48687774G>C | CA346743169 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2023C>G (p.Gln675Glu) c.*335C>G (n.*335C>G) c.3441+16094G>C (n.3441+16094G>C) c.*767C>G (n.*767C>G) c.1942C>G (p.Gln648Glu) c.276+16094G>C (n.276+16094G>C) c.*220+6450C>G (n.*220+6450C>G) c.1066C>G (p.Gln356Glu) c.1093C>G (p.Gln365Glu) c.1948C>G (p.Gln650Glu) c.1762C>G (p.Gln588Glu) c.1681C>G (p.Gln561Glu) c.1387C>G (p.Gln463Glu) c.1768C>G (p.Gln590Glu) | |
2 | g.48687774G= | CA1248600833 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2023C= (p.Gln675=) c.*335C= (n.*335C=) c.3441+16094G= (n.3441+16094G=) c.*767C= (n.*767C=) c.1942C= (p.Gln648=) c.276+16094G= (n.276+16094G=) c.*220+6450C= (n.*220+6450C=) c.1066C= (p.Gln356=) c.1093C= (p.Gln365=) c.1948C= (p.Gln650=) c.1762C= (p.Gln588=) c.1681C= (p.Gln561=) c.1387C= (p.Gln463=) c.1768C= (p.Gln590=) | |
2 | g.48687774G>T | CA1652946 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2023C>A (p.Gln675Lys) c.*335C>A (n.*335C>A) c.3441+16094G>T (n.3441+16094G>T) c.*767C>A (n.*767C>A) c.1942C>A (p.Gln648Lys) c.276+16094G>T (n.276+16094G>T) c.*220+6450C>A (n.*220+6450C>A) c.1066C>A (p.Gln356Lys) c.1093C>A (p.Gln365Lys) c.1948C>A (p.Gln650Lys) c.1762C>A (p.Gln588Lys) c.1681C>A (p.Gln561Lys) c.1387C>A (p.Gln463Lys) c.1768C>A (p.Gln590Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687775A>C | CA426124993 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2022T>G (p.Ser674=) c.*334T>G (n.*334T>G) c.3441+16095A>C (n.3441+16095A>C) c.*766T>G (n.*766T>G) c.1941T>G (p.Ser647=) c.276+16095A>C (n.276+16095A>C) c.*220+6449T>G (n.*220+6449T>G) c.1065T>G (p.Ser355=) c.1092T>G (p.Ser364=) c.1947T>G (p.Ser649=) c.1761T>G (p.Ser587=) c.1680T>G (p.Ser560=) c.1386T>G (p.Ser462=) c.1767T>G (p.Ser589=) | |
2 | g.48687775A>G | CA426124991 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2022T>C (p.Ser674=) c.*334T>C (n.*334T>C) c.3441+16095A>G (n.3441+16095A>G) c.*766T>C (n.*766T>C) c.1941T>C (p.Ser647=) c.276+16095A>G (n.276+16095A>G) c.*220+6449T>C (n.*220+6449T>C) c.1065T>C (p.Ser355=) c.1092T>C (p.Ser364=) c.1947T>C (p.Ser649=) c.1761T>C (p.Ser587=) c.1680T>C (p.Ser560=) c.1386T>C (p.Ser462=) c.1767T>C (p.Ser589=) | gnomAD v4 |
2 | g.48687775A>T | CA426124992 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2022T>A (p.Ser674=) c.*334T>A (n.*334T>A) c.3441+16095A>T (n.3441+16095A>T) c.*766T>A (n.*766T>A) c.1941T>A (p.Ser647=) c.276+16095A>T (n.276+16095A>T) c.*220+6449T>A (n.*220+6449T>A) c.1065T>A (p.Ser355=) c.1092T>A (p.Ser364=) c.1947T>A (p.Ser649=) c.1761T>A (p.Ser587=) c.1680T>A (p.Ser560=) c.1386T>A (p.Ser462=) c.1767T>A (p.Ser589=) | |
2 | g.48687776G>A | CA346743181 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2021C>T (p.Ser674Phe) c.*333C>T (n.*333C>T) c.3441+16096G>A (n.3441+16096G>A) c.*765C>T (n.*765C>T) c.1940C>T (p.Ser647Phe) c.276+16096G>A (n.276+16096G>A) c.*220+6448C>T (n.*220+6448C>T) c.1064C>T (p.Ser355Phe) c.1091C>T (p.Ser364Phe) c.1946C>T (p.Ser649Phe) c.1760C>T (p.Ser587Phe) c.1679C>T (p.Ser560Phe) c.1385C>T (p.Ser462Phe) c.1766C>T (p.Ser589Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.48687776G>C | CA346743178 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2021C>G (p.Ser674Cys) c.*333C>G (n.*333C>G) c.3441+16096G>C (n.3441+16096G>C) c.*765C>G (n.*765C>G) c.1940C>G (p.Ser647Cys) c.276+16096G>C (n.276+16096G>C) c.*220+6448C>G (n.*220+6448C>G) c.1064C>G (p.Ser355Cys) c.1091C>G (p.Ser364Cys) c.1946C>G (p.Ser649Cys) c.1760C>G (p.Ser587Cys) c.1679C>G (p.Ser560Cys) c.1385C>G (p.Ser462Cys) c.1766C>G (p.Ser589Cys) | |
2 | g.48687776G= | CA1248600834 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2021C= (p.Ser674=) c.*333C= (n.*333C=) c.3441+16096G= (n.3441+16096G=) c.*765C= (n.*765C=) c.1940C= (p.Ser647=) c.276+16096G= (n.276+16096G=) c.*220+6448C= (n.*220+6448C=) c.1064C= (p.Ser355=) c.1091C= (p.Ser364=) c.1946C= (p.Ser649=) c.1760C= (p.Ser587=) c.1679C= (p.Ser560=) c.1385C= (p.Ser462=) c.1766C= (p.Ser589=) | |
2 | g.48687776G>T | CA346743179 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2021C>A (p.Ser674Tyr) c.*333C>A (n.*333C>A) c.3441+16096G>T (n.3441+16096G>T) c.*765C>A (n.*765C>A) c.1940C>A (p.Ser647Tyr) c.276+16096G>T (n.276+16096G>T) c.*220+6448C>A (n.*220+6448C>A) c.1064C>A (p.Ser355Tyr) c.1091C>A (p.Ser364Tyr) c.1946C>A (p.Ser649Tyr) c.1760C>A (p.Ser587Tyr) c.1679C>A (p.Ser560Tyr) c.1385C>A (p.Ser462Tyr) c.1766C>A (p.Ser589Tyr) | |
2 | g.48687777A>C | CA346743183 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2020T>G (p.Ser674Ala) c.*332T>G (n.*332T>G) c.3441+16097A>C (n.3441+16097A>C) c.*764T>G (n.*764T>G) c.1939T>G (p.Ser647Ala) c.276+16097A>C (n.276+16097A>C) c.*220+6447T>G (n.*220+6447T>G) c.1063T>G (p.Ser355Ala) c.1090T>G (p.Ser364Ala) c.1945T>G (p.Ser649Ala) c.1759T>G (p.Ser587Ala) c.1678T>G (p.Ser560Ala) c.1384T>G (p.Ser462Ala) c.1765T>G (p.Ser589Ala) | |
2 | g.48687777A>G | CA346743189 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2020T>C (p.Ser674Pro) c.*332T>C (n.*332T>C) c.3441+16097A>G (n.3441+16097A>G) c.*764T>C (n.*764T>C) c.1939T>C (p.Ser647Pro) c.276+16097A>G (n.276+16097A>G) c.*220+6447T>C (n.*220+6447T>C) c.1063T>C (p.Ser355Pro) c.1090T>C (p.Ser364Pro) c.1945T>C (p.Ser649Pro) c.1759T>C (p.Ser587Pro) c.1678T>C (p.Ser560Pro) c.1384T>C (p.Ser462Pro) c.1765T>C (p.Ser589Pro) | |
2 | g.48687777A>T | CA346743192 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2020T>A (p.Ser674Thr) c.*332T>A (n.*332T>A) c.3441+16097A>T (n.3441+16097A>T) c.*764T>A (n.*764T>A) c.1939T>A (p.Ser647Thr) c.276+16097A>T (n.276+16097A>T) c.*220+6447T>A (n.*220+6447T>A) c.1063T>A (p.Ser355Thr) c.1090T>A (p.Ser364Thr) c.1945T>A (p.Ser649Thr) c.1759T>A (p.Ser587Thr) c.1678T>A (p.Ser560Thr) c.1384T>A (p.Ser462Thr) c.1765T>A (p.Ser589Thr) | |
2 | g.48687778A>C | CA426125001 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2019T>G (p.Pro673=) c.*331T>G (n.*331T>G) c.3441+16098A>C (n.3441+16098A>C) c.*763T>G (n.*763T>G) c.1938T>G (p.Pro646=) c.276+16098A>C (n.276+16098A>C) c.*220+6446T>G (n.*220+6446T>G) c.1062T>G (p.Pro354=) c.1089T>G (p.Pro363=) c.1944T>G (p.Pro648=) c.1758T>G (p.Pro586=) c.1677T>G (p.Pro559=) c.1383T>G (p.Pro461=) c.1764T>G (p.Pro588=) | |
2 | g.48687778A>G | CA426124999 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2019T>C (p.Pro673=) c.*331T>C (n.*331T>C) c.3441+16098A>G (n.3441+16098A>G) c.*763T>C (n.*763T>C) c.1938T>C (p.Pro646=) c.276+16098A>G (n.276+16098A>G) c.*220+6446T>C (n.*220+6446T>C) c.1062T>C (p.Pro354=) c.1089T>C (p.Pro363=) c.1944T>C (p.Pro648=) c.1758T>C (p.Pro586=) c.1677T>C (p.Pro559=) c.1383T>C (p.Pro461=) c.1764T>C (p.Pro588=) | |
2 | g.48687778A>T | CA426124997 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2019T>A (p.Pro673=) c.*331T>A (n.*331T>A) c.3441+16098A>T (n.3441+16098A>T) c.*763T>A (n.*763T>A) c.1938T>A (p.Pro646=) c.276+16098A>T (n.276+16098A>T) c.*220+6446T>A (n.*220+6446T>A) c.1062T>A (p.Pro354=) c.1089T>A (p.Pro363=) c.1944T>A (p.Pro648=) c.1758T>A (p.Pro586=) c.1677T>A (p.Pro559=) c.1383T>A (p.Pro461=) c.1764T>A (p.Pro588=) | |
2 | g.48687779G>A | CA346743194 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2018C>T (p.Pro673Leu) c.*330C>T (n.*330C>T) c.3441+16099G>A (n.3441+16099G>A) c.*762C>T (n.*762C>T) c.1937C>T (p.Pro646Leu) c.276+16099G>A (n.276+16099G>A) c.*220+6445C>T (n.*220+6445C>T) c.1061C>T (p.Pro354Leu) c.1088C>T (p.Pro363Leu) c.1943C>T (p.Pro648Leu) c.1757C>T (p.Pro586Leu) c.1676C>T (p.Pro559Leu) c.1382C>T (p.Pro461Leu) c.1763C>T (p.Pro588Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687779G>C | CA346743197 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2018C>G (p.Pro673Arg) c.*330C>G (n.*330C>G) c.3441+16099G>C (n.3441+16099G>C) c.*762C>G (n.*762C>G) c.1937C>G (p.Pro646Arg) c.276+16099G>C (n.276+16099G>C) c.*220+6445C>G (n.*220+6445C>G) c.1061C>G (p.Pro354Arg) c.1088C>G (p.Pro363Arg) c.1943C>G (p.Pro648Arg) c.1757C>G (p.Pro586Arg) c.1676C>G (p.Pro559Arg) c.1382C>G (p.Pro461Arg) c.1763C>G (p.Pro588Arg) | |
2 | g.48687779G= | CA1248600835 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2018C= (p.Pro673=) c.*330C= (n.*330C=) c.3441+16099G= (n.3441+16099G=) c.*762C= (n.*762C=) c.1937C= (p.Pro646=) c.276+16099G= (n.276+16099G=) c.*220+6445C= (n.*220+6445C=) c.1061C= (p.Pro354=) c.1088C= (p.Pro363=) c.1943C= (p.Pro648=) c.1757C= (p.Pro586=) c.1676C= (p.Pro559=) c.1382C= (p.Pro461=) c.1763C= (p.Pro588=) | |
2 | g.48687779G>T | CA346743199 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2018C>A (p.Pro673His) c.*330C>A (n.*330C>A) c.3441+16099G>T (n.3441+16099G>T) c.*762C>A (n.*762C>A) c.1937C>A (p.Pro646His) c.276+16099G>T (n.276+16099G>T) c.*220+6445C>A (n.*220+6445C>A) c.1061C>A (p.Pro354His) c.1088C>A (p.Pro363His) c.1943C>A (p.Pro648His) c.1757C>A (p.Pro586His) c.1676C>A (p.Pro559His) c.1382C>A (p.Pro461His) c.1763C>A (p.Pro588His) | |
2 | g.48687780G>A | CA346743201 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2017C>T (p.Pro673Ser) c.*329C>T (n.*329C>T) c.3441+16100G>A (n.3441+16100G>A) c.*761C>T (n.*761C>T) c.1936C>T (p.Pro646Ser) c.276+16100G>A (n.276+16100G>A) c.*220+6444C>T (n.*220+6444C>T) c.1060C>T (p.Pro354Ser) c.1087C>T (p.Pro363Ser) c.1942C>T (p.Pro648Ser) c.1756C>T (p.Pro586Ser) c.1675C>T (p.Pro559Ser) c.1381C>T (p.Pro461Ser) c.1762C>T (p.Pro588Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687780G>C | CA346743203 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2017C>G (p.Pro673Ala) c.*329C>G (n.*329C>G) c.3441+16100G>C (n.3441+16100G>C) c.*761C>G (n.*761C>G) c.1936C>G (p.Pro646Ala) c.276+16100G>C (n.276+16100G>C) c.*220+6444C>G (n.*220+6444C>G) c.1060C>G (p.Pro354Ala) c.1087C>G (p.Pro363Ala) c.1942C>G (p.Pro648Ala) c.1756C>G (p.Pro586Ala) c.1675C>G (p.Pro559Ala) c.1381C>G (p.Pro461Ala) c.1762C>G (p.Pro588Ala) | |
2 | g.48687780G= | CA1248600836 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2017C= (p.Pro673=) c.*329C= (n.*329C=) c.3441+16100G= (n.3441+16100G=) c.*761C= (n.*761C=) c.1936C= (p.Pro646=) c.276+16100G= (n.276+16100G=) c.*220+6444C= (n.*220+6444C=) c.1060C= (p.Pro354=) c.1087C= (p.Pro363=) c.1942C= (p.Pro648=) c.1756C= (p.Pro586=) c.1675C= (p.Pro559=) c.1381C= (p.Pro461=) c.1762C= (p.Pro588=) | |
2 | g.48687780G>T | CA346743206 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2017C>A (p.Pro673Thr) c.*329C>A (n.*329C>A) c.3441+16100G>T (n.3441+16100G>T) c.*761C>A (n.*761C>A) c.1936C>A (p.Pro646Thr) c.276+16100G>T (n.276+16100G>T) c.*220+6444C>A (n.*220+6444C>A) c.1060C>A (p.Pro354Thr) c.1087C>A (p.Pro363Thr) c.1942C>A (p.Pro648Thr) c.1756C>A (p.Pro586Thr) c.1675C>A (p.Pro559Thr) c.1381C>A (p.Pro461Thr) c.1762C>A (p.Pro588Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48687781C>A | CA346743216 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2016G>T (p.Lys672Asn) c.*328G>T (n.*328G>T) c.3441+16101C>A (n.3441+16101C>A) c.*760G>T (n.*760G>T) c.1935G>T (p.Lys645Asn) c.276+16101C>A (n.276+16101C>A) c.*220+6443G>T (n.*220+6443G>T) c.1059G>T (p.Lys353Asn) c.1086G>T (p.Lys362Asn) c.1941G>T (p.Lys647Asn) c.1755G>T (p.Lys585Asn) c.1674G>T (p.Lys558Asn) c.1380G>T (p.Lys460Asn) c.1761G>T (p.Lys587Asn) | |
2 | g.48687781C= | CA1248600837 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2016G= (p.Lys672=) c.*328G= (n.*328G=) c.3441+16101C= (n.3441+16101C=) c.*760G= (n.*760G=) c.1935G= (p.Lys645=) c.276+16101C= (n.276+16101C=) c.*220+6443G= (n.*220+6443G=) c.1059G= (p.Lys353=) c.1086G= (p.Lys362=) c.1941G= (p.Lys647=) c.1755G= (p.Lys585=) c.1674G= (p.Lys558=) c.1380G= (p.Lys460=) c.1761G= (p.Lys587=) | |
2 | g.48687781C>G | CA346743218 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2016G>C (p.Lys672Asn) c.*328G>C (n.*328G>C) c.3441+16101C>G (n.3441+16101C>G) c.*760G>C (n.*760G>C) c.1935G>C (p.Lys645Asn) c.276+16101C>G (n.276+16101C>G) c.*220+6443G>C (n.*220+6443G>C) c.1059G>C (p.Lys353Asn) c.1086G>C (p.Lys362Asn) c.1941G>C (p.Lys647Asn) c.1755G>C (p.Lys585Asn) c.1674G>C (p.Lys558Asn) c.1380G>C (p.Lys460Asn) c.1761G>C (p.Lys587Asn) | |
2 | g.48687781C>T | CA1652947 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2016G>A (p.Lys672=) c.*328G>A (n.*328G>A) c.3441+16101C>T (n.3441+16101C>T) c.*760G>A (n.*760G>A) c.1935G>A (p.Lys645=) c.276+16101C>T (n.276+16101C>T) c.*220+6443G>A (n.*220+6443G>A) c.1059G>A (p.Lys353=) c.1086G>A (p.Lys362=) c.1941G>A (p.Lys647=) c.1755G>A (p.Lys585=) c.1674G>A (p.Lys558=) c.1380G>A (p.Lys460=) c.1761G>A (p.Lys587=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48687782T>A | CA346743230 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2015A>T (p.Lys672Met) c.*327A>T (n.*327A>T) c.3441+16102T>A (n.3441+16102T>A) c.*759A>T (n.*759A>T) c.1934A>T (p.Lys645Met) c.276+16102T>A (n.276+16102T>A) c.*220+6442A>T (n.*220+6442A>T) c.1058A>T (p.Lys353Met) c.1085A>T (p.Lys362Met) c.1940A>T (p.Lys647Met) c.1754A>T (p.Lys585Met) c.1673A>T (p.Lys558Met) c.1379A>T (p.Lys460Met) c.1760A>T (p.Lys587Met) | |
2 | g.48687782T>C | CA346743227 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2015A>G (p.Lys672Arg) c.*327A>G (n.*327A>G) c.3441+16102T>C (n.3441+16102T>C) c.*759A>G (n.*759A>G) c.1934A>G (p.Lys645Arg) c.276+16102T>C (n.276+16102T>C) c.*220+6442A>G (n.*220+6442A>G) c.1058A>G (p.Lys353Arg) c.1085A>G (p.Lys362Arg) c.1940A>G (p.Lys647Arg) c.1754A>G (p.Lys585Arg) c.1673A>G (p.Lys558Arg) c.1379A>G (p.Lys460Arg) c.1760A>G (p.Lys587Arg) | COSMIC |
2 | g.48687782T>G | CA346743225 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2015A>C (p.Lys672Thr) c.*327A>C (n.*327A>C) c.3441+16102T>G (n.3441+16102T>G) c.*759A>C (n.*759A>C) c.1934A>C (p.Lys645Thr) c.276+16102T>G (n.276+16102T>G) c.*220+6442A>C (n.*220+6442A>C) c.1058A>C (p.Lys353Thr) c.1085A>C (p.Lys362Thr) c.1940A>C (p.Lys647Thr) c.1754A>C (p.Lys585Thr) c.1673A>C (p.Lys558Thr) c.1379A>C (p.Lys460Thr) c.1760A>C (p.Lys587Thr) | dbSNP COSMIC |
2 | g.48687782T= | CA1248600838 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2015A= (p.Lys672=) c.*327A= (n.*327A=) c.3441+16102T= (n.3441+16102T=) c.*759A= (n.*759A=) c.1934A= (p.Lys645=) c.276+16102T= (n.276+16102T=) c.*220+6442A= (n.*220+6442A=) c.1058A= (p.Lys353=) c.1085A= (p.Lys362=) c.1940A= (p.Lys647=) c.1754A= (p.Lys585=) c.1673A= (p.Lys558=) c.1379A= (p.Lys460=) c.1760A= (p.Lys587=) | |
2 | g.48687783T>A | CA346743243 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2014A>T (p.Lys672Ter) c.*326A>T (n.*326A>T) c.3441+16103T>A (n.3441+16103T>A) c.*758A>T (n.*758A>T) c.1933A>T (p.Lys645Ter) c.276+16103T>A (n.276+16103T>A) c.*220+6441A>T (n.*220+6441A>T) c.1057A>T (p.Lys353Ter) c.1084A>T (p.Lys362Ter) c.1939A>T (p.Lys647Ter) c.1753A>T (p.Lys585Ter) c.1672A>T (p.Lys558Ter) c.1378A>T (p.Lys460Ter) c.1759A>T (p.Lys587Ter) | |
2 | g.48687783T>C | CA346743232 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2014A>G (p.Lys672Glu) c.*326A>G (n.*326A>G) c.3441+16103T>C (n.3441+16103T>C) c.*758A>G (n.*758A>G) c.1933A>G (p.Lys645Glu) c.276+16103T>C (n.276+16103T>C) c.*220+6441A>G (n.*220+6441A>G) c.1057A>G (p.Lys353Glu) c.1084A>G (p.Lys362Glu) c.1939A>G (p.Lys647Glu) c.1753A>G (p.Lys585Glu) c.1672A>G (p.Lys558Glu) c.1378A>G (p.Lys460Glu) c.1759A>G (p.Lys587Glu) | COSMIC |
2 | g.48687783T>G | CA346743235 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2014A>C (p.Lys672Gln) c.*326A>C (n.*326A>C) c.3441+16103T>G (n.3441+16103T>G) c.*758A>C (n.*758A>C) c.1933A>C (p.Lys645Gln) c.276+16103T>G (n.276+16103T>G) c.*220+6441A>C (n.*220+6441A>C) c.1057A>C (p.Lys353Gln) c.1084A>C (p.Lys362Gln) c.1939A>C (p.Lys647Gln) c.1753A>C (p.Lys585Gln) c.1672A>C (p.Lys558Gln) c.1378A>C (p.Lys460Gln) c.1759A>C (p.Lys587Gln) | |
2 | g.48687784A= | CA1248600839 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2013T= (p.Asn671=) c.*325T= (n.*325T=) c.3441+16104A= (n.3441+16104A=) c.*757T= (n.*757T=) c.1932T= (p.Asn644=) c.276+16104A= (n.276+16104A=) c.*220+6440T= (n.*220+6440T=) c.1056T= (p.Asn352=) c.1083T= (p.Asn361=) c.1938T= (p.Asn646=) c.1752T= (p.Asn584=) c.1671T= (p.Asn557=) c.1377T= (p.Asn459=) c.1758T= (p.Asn586=) | |
2 | g.48687784A>C | CA346743244 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2013T>G (p.Asn671Lys) c.*325T>G (n.*325T>G) c.3441+16104A>C (n.3441+16104A>C) c.*757T>G (n.*757T>G) c.1932T>G (p.Asn644Lys) c.276+16104A>C (n.276+16104A>C) c.*220+6440T>G (n.*220+6440T>G) c.1056T>G (p.Asn352Lys) c.1083T>G (p.Asn361Lys) c.1938T>G (p.Asn646Lys) c.1752T>G (p.Asn584Lys) c.1671T>G (p.Asn557Lys) c.1377T>G (p.Asn459Lys) c.1758T>G (p.Asn586Lys) | |
2 | g.48687784A>G | CA426125011 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2013T>C (p.Asn671=) c.*325T>C (n.*325T>C) c.3441+16104A>G (n.3441+16104A>G) c.*757T>C (n.*757T>C) c.1932T>C (p.Asn644=) c.276+16104A>G (n.276+16104A>G) c.*220+6440T>C (n.*220+6440T>C) c.1056T>C (p.Asn352=) c.1083T>C (p.Asn361=) c.1938T>C (p.Asn646=) c.1752T>C (p.Asn584=) c.1671T>C (p.Asn557=) c.1377T>C (p.Asn459=) c.1758T>C (p.Asn586=) | |
2 | g.48687784A>T | CA346743245 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2013T>A (p.Asn671Lys) c.*325T>A (n.*325T>A) c.3441+16104A>T (n.3441+16104A>T) c.*757T>A (n.*757T>A) c.1932T>A (p.Asn644Lys) c.276+16104A>T (n.276+16104A>T) c.*220+6440T>A (n.*220+6440T>A) c.1056T>A (p.Asn352Lys) c.1083T>A (p.Asn361Lys) c.1938T>A (p.Asn646Lys) c.1752T>A (p.Asn584Lys) c.1671T>A (p.Asn557Lys) c.1377T>A (p.Asn459Lys) c.1758T>A (p.Asn586Lys) | dbSNP gnomAD v4 |
2 | g.48687785T>A | CA346743247 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2012A>T (p.Asn671Ile) c.*324A>T (n.*324A>T) c.3441+16105T>A (n.3441+16105T>A) c.*756A>T (n.*756A>T) c.1931A>T (p.Asn644Ile) c.276+16105T>A (n.276+16105T>A) c.*220+6439A>T (n.*220+6439A>T) c.1055A>T (p.Asn352Ile) c.1082A>T (p.Asn361Ile) c.1937A>T (p.Asn646Ile) c.1751A>T (p.Asn584Ile) c.1670A>T (p.Asn557Ile) c.1376A>T (p.Asn459Ile) c.1757A>T (p.Asn586Ile) | |
2 | g.48687785T>C | CA346743250 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2012A>G (p.Asn671Ser) c.*324A>G (n.*324A>G) c.3441+16105T>C (n.3441+16105T>C) c.*756A>G (n.*756A>G) c.1931A>G (p.Asn644Ser) c.276+16105T>C (n.276+16105T>C) c.*220+6439A>G (n.*220+6439A>G) c.1055A>G (p.Asn352Ser) c.1082A>G (p.Asn361Ser) c.1937A>G (p.Asn646Ser) c.1751A>G (p.Asn584Ser) c.1670A>G (p.Asn557Ser) c.1376A>G (p.Asn459Ser) c.1757A>G (p.Asn586Ser) | dbSNP gnomAD v4 |
2 | g.48687785T>G | CA1652948 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2012A>C (p.Asn671Thr) c.*324A>C (n.*324A>C) c.3441+16105T>G (n.3441+16105T>G) c.*756A>C (n.*756A>C) c.1931A>C (p.Asn644Thr) c.276+16105T>G (n.276+16105T>G) c.*220+6439A>C (n.*220+6439A>C) c.1055A>C (p.Asn352Thr) c.1082A>C (p.Asn361Thr) c.1937A>C (p.Asn646Thr) c.1751A>C (p.Asn584Thr) c.1670A>C (p.Asn557Thr) c.1376A>C (p.Asn459Thr) c.1757A>C (p.Asn586Thr) | dbSNP ExAC gnomAD v2 |
2 | g.48687785T= | CA1248600840 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2012A= (p.Asn671=) c.*324A= (n.*324A=) c.3441+16105T= (n.3441+16105T=) c.*756A= (n.*756A=) c.1931A= (p.Asn644=) c.276+16105T= (n.276+16105T=) c.*220+6439A= (n.*220+6439A=) c.1055A= (p.Asn352=) c.1082A= (p.Asn361=) c.1937A= (p.Asn646=) c.1751A= (p.Asn584=) c.1670A= (p.Asn557=) c.1376A= (p.Asn459=) c.1757A= (p.Asn586=) | |
2 | g.48687786T>A | CA346743252 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2011A>T (p.Asn671Tyr) c.*323A>T (n.*323A>T) c.3441+16106T>A (n.3441+16106T>A) c.*755A>T (n.*755A>T) c.1930A>T (p.Asn644Tyr) c.276+16106T>A (n.276+16106T>A) c.*220+6438A>T (n.*220+6438A>T) c.1054A>T (p.Asn352Tyr) c.1081A>T (p.Asn361Tyr) c.1936A>T (p.Asn646Tyr) c.1750A>T (p.Asn584Tyr) c.1669A>T (p.Asn557Tyr) c.1375A>T (p.Asn459Tyr) c.1756A>T (p.Asn586Tyr) | |
2 | g.48687786T>C | CA1652949 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2011A>G (p.Asn671Asp) c.*323A>G (n.*323A>G) c.3441+16106T>C (n.3441+16106T>C) c.*755A>G (n.*755A>G) c.1930A>G (p.Asn644Asp) c.276+16106T>C (n.276+16106T>C) c.*220+6438A>G (n.*220+6438A>G) c.1054A>G (p.Asn352Asp) c.1081A>G (p.Asn361Asp) c.1936A>G (p.Asn646Asp) c.1750A>G (p.Asn584Asp) c.1669A>G (p.Asn557Asp) c.1375A>G (p.Asn459Asp) c.1756A>G (p.Asn586Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48687786T>G | CA346743253 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2011A>C (p.Asn671His) c.*323A>C (n.*323A>C) c.3441+16106T>G (n.3441+16106T>G) c.*755A>C (n.*755A>C) c.1930A>C (p.Asn644His) c.276+16106T>G (n.276+16106T>G) c.*220+6438A>C (n.*220+6438A>C) c.1054A>C (p.Asn352His) c.1081A>C (p.Asn361His) c.1936A>C (p.Asn646His) c.1750A>C (p.Asn584His) c.1669A>C (p.Asn557His) c.1375A>C (p.Asn459His) c.1756A>C (p.Asn586His) | |
2 | g.48687786T= | CA1248600841 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2011A= (p.Asn671=) c.*323A= (n.*323A=) c.3441+16106T= (n.3441+16106T=) c.*755A= (n.*755A=) c.1930A= (p.Asn644=) c.276+16106T= (n.276+16106T=) c.*220+6438A= (n.*220+6438A=) c.1054A= (p.Asn352=) c.1081A= (p.Asn361=) c.1936A= (p.Asn646=) c.1750A= (p.Asn584=) c.1669A= (p.Asn557=) c.1375A= (p.Asn459=) c.1756A= (p.Asn586=) | |
2 | g.48687787T>A | CA426125022 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2010A>T (p.Ser670=) c.*322A>T (n.*322A>T) c.3441+16107T>A (n.3441+16107T>A) c.*754A>T (n.*754A>T) c.1929A>T (p.Ser643=) c.276+16107T>A (n.276+16107T>A) c.*220+6437A>T (n.*220+6437A>T) c.1053A>T (p.Ser351=) c.1080A>T (p.Ser360=) c.1935A>T (p.Ser645=) c.1749A>T (p.Ser583=) c.1668A>T (p.Ser556=) c.1374A>T (p.Ser458=) c.1755A>T (p.Ser585=) | |
2 | g.48687787T>C | CA426125023 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2010A>G (p.Ser670=) c.*322A>G (n.*322A>G) c.3441+16107T>C (n.3441+16107T>C) c.*754A>G (n.*754A>G) c.1929A>G (p.Ser643=) c.276+16107T>C (n.276+16107T>C) c.*220+6437A>G (n.*220+6437A>G) c.1053A>G (p.Ser351=) c.1080A>G (p.Ser360=) c.1935A>G (p.Ser645=) c.1749A>G (p.Ser583=) c.1668A>G (p.Ser556=) c.1374A>G (p.Ser458=) c.1755A>G (p.Ser585=) | gnomAD v4 |
2 | g.48687787T>G | CA426125024 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2010A>C (p.Ser670=) c.*322A>C (n.*322A>C) c.3441+16107T>G (n.3441+16107T>G) c.*754A>C (n.*754A>C) c.1929A>C (p.Ser643=) c.276+16107T>G (n.276+16107T>G) c.*220+6437A>C (n.*220+6437A>C) c.1053A>C (p.Ser351=) c.1080A>C (p.Ser360=) c.1935A>C (p.Ser645=) c.1749A>C (p.Ser583=) c.1668A>C (p.Ser556=) c.1374A>C (p.Ser458=) c.1755A>C (p.Ser585=) | |
2 | g.48687788G>A | CA346743254 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2009C>T (p.Ser670Leu) c.*321C>T (n.*321C>T) c.3441+16108G>A (n.3441+16108G>A) c.*753C>T (n.*753C>T) c.1928C>T (p.Ser643Leu) c.276+16108G>A (n.276+16108G>A) c.*220+6436C>T (n.*220+6436C>T) c.1052C>T (p.Ser351Leu) c.1079C>T (p.Ser360Leu) c.1934C>T (p.Ser645Leu) c.1748C>T (p.Ser583Leu) c.1667C>T (p.Ser556Leu) c.1373C>T (p.Ser458Leu) c.1754C>T (p.Ser585Leu) | |
2 | g.48687788G>C | CA346743256 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2009C>G (p.Ser670Ter) c.*321C>G (n.*321C>G) c.3441+16108G>C (n.3441+16108G>C) c.*753C>G (n.*753C>G) c.1928C>G (p.Ser643Ter) c.276+16108G>C (n.276+16108G>C) c.*220+6436C>G (n.*220+6436C>G) c.1052C>G (p.Ser351Ter) c.1079C>G (p.Ser360Ter) c.1934C>G (p.Ser645Ter) c.1748C>G (p.Ser583Ter) c.1667C>G (p.Ser556Ter) c.1373C>G (p.Ser458Ter) c.1754C>G (p.Ser585Ter) | |
2 | g.48687788G>T | CA346743258 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2009C>A (p.Ser670Ter) c.*321C>A (n.*321C>A) c.3441+16108G>T (n.3441+16108G>T) c.*753C>A (n.*753C>A) c.1928C>A (p.Ser643Ter) c.276+16108G>T (n.276+16108G>T) c.*220+6436C>A (n.*220+6436C>A) c.1052C>A (p.Ser351Ter) c.1079C>A (p.Ser360Ter) c.1934C>A (p.Ser645Ter) c.1748C>A (p.Ser583Ter) c.1667C>A (p.Ser556Ter) c.1373C>A (p.Ser458Ter) c.1754C>A (p.Ser585Ter) | |
2 | g.48687789A>C | CA346743265 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2008T>G (p.Ser670Ala) c.*320T>G (n.*320T>G) c.3441+16109A>C (n.3441+16109A>C) c.*752T>G (n.*752T>G) c.1927T>G (p.Ser643Ala) c.276+16109A>C (n.276+16109A>C) c.*220+6435T>G (n.*220+6435T>G) c.1051T>G (p.Ser351Ala) c.1078T>G (p.Ser360Ala) c.1933T>G (p.Ser645Ala) c.1747T>G (p.Ser583Ala) c.1666T>G (p.Ser556Ala) c.1372T>G (p.Ser458Ala) c.1753T>G (p.Ser585Ala) | |
2 | g.48687789A>G | CA346743264 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2008T>C (p.Ser670Pro) c.*320T>C (n.*320T>C) c.3441+16109A>G (n.3441+16109A>G) c.*752T>C (n.*752T>C) c.1927T>C (p.Ser643Pro) c.276+16109A>G (n.276+16109A>G) c.*220+6435T>C (n.*220+6435T>C) c.1051T>C (p.Ser351Pro) c.1078T>C (p.Ser360Pro) c.1933T>C (p.Ser645Pro) c.1747T>C (p.Ser583Pro) c.1666T>C (p.Ser556Pro) c.1372T>C (p.Ser458Pro) c.1753T>C (p.Ser585Pro) | gnomAD v4 |
2 | g.48687789A>T | CA346743260 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2008T>A (p.Ser670Thr) c.*320T>A (n.*320T>A) c.3441+16109A>T (n.3441+16109A>T) c.*752T>A (n.*752T>A) c.1927T>A (p.Ser643Thr) c.276+16109A>T (n.276+16109A>T) c.*220+6435T>A (n.*220+6435T>A) c.1051T>A (p.Ser351Thr) c.1078T>A (p.Ser360Thr) c.1933T>A (p.Ser645Thr) c.1747T>A (p.Ser583Thr) c.1666T>A (p.Ser556Thr) c.1372T>A (p.Ser458Thr) c.1753T>A (p.Ser585Thr) | |
2 | g.48687790T>A | CA426125032 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2007A>T (p.Gly669=) c.*319A>T (n.*319A>T) c.3441+16110T>A (n.3441+16110T>A) c.*751A>T (n.*751A>T) c.1926A>T (p.Gly642=) c.276+16110T>A (n.276+16110T>A) c.*220+6434A>T (n.*220+6434A>T) c.1050A>T (p.Gly350=) c.1077A>T (p.Gly359=) c.1932A>T (p.Gly644=) c.1746A>T (p.Gly582=) c.1665A>T (p.Gly555=) c.1371A>T (p.Gly457=) c.1752A>T (p.Gly584=) | |
2 | g.48687790T>C | CA426125033 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2007A>G (p.Gly669=) c.*319A>G (n.*319A>G) c.3441+16110T>C (n.3441+16110T>C) c.*751A>G (n.*751A>G) c.1926A>G (p.Gly642=) c.276+16110T>C (n.276+16110T>C) c.*220+6434A>G (n.*220+6434A>G) c.1050A>G (p.Gly350=) c.1077A>G (p.Gly359=) c.1932A>G (p.Gly644=) c.1746A>G (p.Gly582=) c.1665A>G (p.Gly555=) c.1371A>G (p.Gly457=) c.1752A>G (p.Gly584=) | |
2 | g.48687790T>G | CA426125030 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2007A>C (p.Gly669=) c.*319A>C (n.*319A>C) c.3441+16110T>G (n.3441+16110T>G) c.*751A>C (n.*751A>C) c.1926A>C (p.Gly642=) c.276+16110T>G (n.276+16110T>G) c.*220+6434A>C (n.*220+6434A>C) c.1050A>C (p.Gly350=) c.1077A>C (p.Gly359=) c.1932A>C (p.Gly644=) c.1746A>C (p.Gly582=) c.1665A>C (p.Gly555=) c.1371A>C (p.Gly457=) c.1752A>C (p.Gly584=) | |
2 | g.48687791C>A | CA346743266 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2006G>T (p.Gly669Val) c.*318G>T (n.*318G>T) c.3441+16111C>A (n.3441+16111C>A) c.*750G>T (n.*750G>T) c.1925G>T (p.Gly642Val) c.276+16111C>A (n.276+16111C>A) c.*220+6433G>T (n.*220+6433G>T) c.1049G>T (p.Gly350Val) c.1076G>T (p.Gly359Val) c.1931G>T (p.Gly644Val) c.1745G>T (p.Gly582Val) c.1664G>T (p.Gly555Val) c.1370G>T (p.Gly457Val) c.1751G>T (p.Gly584Val) | gnomAD v4 |
2 | g.48687791C>G | CA346743267 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2006G>C (p.Gly669Ala) c.*318G>C (n.*318G>C) c.3441+16111C>G (n.3441+16111C>G) c.*750G>C (n.*750G>C) c.1925G>C (p.Gly642Ala) c.276+16111C>G (n.276+16111C>G) c.*220+6433G>C (n.*220+6433G>C) c.1049G>C (p.Gly350Ala) c.1076G>C (p.Gly359Ala) c.1931G>C (p.Gly644Ala) c.1745G>C (p.Gly582Ala) c.1664G>C (p.Gly555Ala) c.1370G>C (p.Gly457Ala) c.1751G>C (p.Gly584Ala) | gnomAD v4 |
2 | g.48687791C>T | CA346743268 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.2006G>A (p.Gly669Glu) c.*318G>A (n.*318G>A) c.3441+16111C>T (n.3441+16111C>T) c.*750G>A (n.*750G>A) c.1925G>A (p.Gly642Glu) c.276+16111C>T (n.276+16111C>T) c.*220+6433G>A (n.*220+6433G>A) c.1049G>A (p.Gly350Glu) c.1076G>A (p.Gly359Glu) c.1931G>A (p.Gly644Glu) c.1745G>A (p.Gly582Glu) c.1664G>A (p.Gly555Glu) c.1370G>A (p.Gly457Glu) c.1751G>A (p.Gly584Glu) | gnomAD v4 |