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