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