Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.48688019G>A | CA346744568 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1778C>T (p.Ala593Val) c.*90C>T (n.*90C>T) c.3441+16339G>A (n.3441+16339G>A) c.*522C>T (n.*522C>T) c.1697C>T (p.Ala566Val) c.276+16339G>A (n.276+16339G>A) c.*220+6205C>T (n.*220+6205C>T) c.821C>T (p.Ala274Val) c.848C>T (p.Ala283Val) c.1703C>T (p.Ala568Val) c.1517C>T (p.Ala506Val) c.1436C>T (p.Ala479Val) c.1142C>T (p.Ala381Val) c.1523C>T (p.Ala508Val) | dbSNP |
2 | g.48688019G>C | CA346744569 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1778C>G (p.Ala593Gly) c.*90C>G (n.*90C>G) c.3441+16339G>C (n.3441+16339G>C) c.*522C>G (n.*522C>G) c.1697C>G (p.Ala566Gly) c.276+16339G>C (n.276+16339G>C) c.*220+6205C>G (n.*220+6205C>G) c.821C>G (p.Ala274Gly) c.848C>G (p.Ala283Gly) c.1703C>G (p.Ala568Gly) c.1517C>G (p.Ala506Gly) c.1436C>G (p.Ala479Gly) c.1142C>G (p.Ala381Gly) c.1523C>G (p.Ala508Gly) | |
2 | g.48688019G= | CA1248600949 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1778C= (p.Ala593=) c.*90C= (n.*90C=) c.3441+16339G= (n.3441+16339G=) c.*522C= (n.*522C=) c.1697C= (p.Ala566=) c.276+16339G= (n.276+16339G=) c.*220+6205C= (n.*220+6205C=) c.821C= (p.Ala274=) c.848C= (p.Ala283=) c.1703C= (p.Ala568=) c.1517C= (p.Ala506=) c.1436C= (p.Ala479=) c.1142C= (p.Ala381=) c.1523C= (p.Ala508=) | |
2 | g.48688019G>T | CA346744570 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1778C>A (p.Ala593Asp) c.*90C>A (n.*90C>A) c.3441+16339G>T (n.3441+16339G>T) c.*522C>A (n.*522C>A) c.1697C>A (p.Ala566Asp) c.276+16339G>T (n.276+16339G>T) c.*220+6205C>A (n.*220+6205C>A) c.821C>A (p.Ala274Asp) c.848C>A (p.Ala283Asp) c.1703C>A (p.Ala568Asp) c.1517C>A (p.Ala506Asp) c.1436C>A (p.Ala479Asp) c.1142C>A (p.Ala381Asp) c.1523C>A (p.Ala508Asp) | dbSNP gnomAD v4 |
2 | g.48688020C>A | CA346744575 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1777G>T (p.Ala593Ser) c.*89G>T (n.*89G>T) c.3441+16340C>A (n.3441+16340C>A) c.*521G>T (n.*521G>T) c.1696G>T (p.Ala566Ser) c.276+16340C>A (n.276+16340C>A) c.*220+6204G>T (n.*220+6204G>T) c.820G>T (p.Ala274Ser) c.847G>T (p.Ala283Ser) c.1702G>T (p.Ala568Ser) c.1516G>T (p.Ala506Ser) c.1435G>T (p.Ala479Ser) c.1141G>T (p.Ala381Ser) c.1522G>T (p.Ala508Ser) | |
2 | g.48688020C= | CA1248600950 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1777G= (p.Ala593=) c.*89G= (n.*89G=) c.3441+16340C= (n.3441+16340C=) c.*521G= (n.*521G=) c.1696G= (p.Ala566=) c.276+16340C= (n.276+16340C=) c.*220+6204G= (n.*220+6204G=) c.820G= (p.Ala274=) c.847G= (p.Ala283=) c.1702G= (p.Ala568=) c.1516G= (p.Ala506=) c.1435G= (p.Ala479=) c.1141G= (p.Ala381=) c.1522G= (p.Ala508=) | |
2 | g.48688020C>G | CA123918 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1777G>C (p.Ala593Pro) c.*89G>C (n.*89G>C) c.3441+16340C>G (n.3441+16340C>G) c.*521G>C (n.*521G>C) c.1696G>C (p.Ala566Pro) c.276+16340C>G (n.276+16340C>G) c.*220+6204G>C (n.*220+6204G>C) c.820G>C (p.Ala274Pro) c.847G>C (p.Ala283Pro) c.1702G>C (p.Ala568Pro) c.1516G>C (p.Ala506Pro) c.1435G>C (p.Ala479Pro) c.1141G>C (p.Ala381Pro) c.1522G>C (p.Ala508Pro) | ClinVar dbSNP |
2 | g.48688020C>T | CA346744582 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1777G>A (p.Ala593Thr) c.*89G>A (n.*89G>A) c.3441+16340C>T (n.3441+16340C>T) c.*521G>A (n.*521G>A) c.1696G>A (p.Ala566Thr) c.276+16340C>T (n.276+16340C>T) c.*220+6204G>A (n.*220+6204G>A) c.820G>A (p.Ala274Thr) c.847G>A (p.Ala283Thr) c.1702G>A (p.Ala568Thr) c.1516G>A (p.Ala506Thr) c.1435G>A (p.Ala479Thr) c.1141G>A (p.Ala381Thr) c.1522G>A (p.Ala508Thr) | |
2 | g.48688021A= | CA1248600951 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1776T= (p.Ala592=) c.*88T= (n.*88T=) c.3441+16341A= (n.3441+16341A=) c.*520T= (n.*520T=) c.1695T= (p.Ala565=) c.276+16341A= (n.276+16341A=) c.*220+6203T= (n.*220+6203T=) c.819T= (p.Ala273=) c.846T= (p.Ala282=) c.1701T= (p.Ala567=) c.1515T= (p.Ala505=) c.1434T= (p.Ala478=) c.1140T= (p.Ala380=) c.1521T= (p.Ala507=) | |
2 | g.48688021A>C | CA426124897 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1776T>G (p.Ala592=) c.*88T>G (n.*88T>G) c.3441+16341A>C (n.3441+16341A>C) c.*520T>G (n.*520T>G) c.1695T>G (p.Ala565=) c.276+16341A>C (n.276+16341A>C) c.*220+6203T>G (n.*220+6203T>G) c.819T>G (p.Ala273=) c.846T>G (p.Ala282=) c.1701T>G (p.Ala567=) c.1515T>G (p.Ala505=) c.1434T>G (p.Ala478=) c.1140T>G (p.Ala380=) c.1521T>G (p.Ala507=) | |
2 | g.48688021A>G | CA1652991 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1776T>C (p.Ala592=) c.*88T>C (n.*88T>C) c.3441+16341A>G (n.3441+16341A>G) c.*520T>C (n.*520T>C) c.1695T>C (p.Ala565=) c.276+16341A>G (n.276+16341A>G) c.*220+6203T>C (n.*220+6203T>C) c.819T>C (p.Ala273=) c.846T>C (p.Ala282=) c.1701T>C (p.Ala567=) c.1515T>C (p.Ala505=) c.1434T>C (p.Ala478=) c.1140T>C (p.Ala380=) c.1521T>C (p.Ala507=) | dbSNP ExAC gnomAD v2 |
2 | g.48688021A>T | CA426124898 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1776T>A (p.Ala592=) c.*88T>A (n.*88T>A) c.3441+16341A>T (n.3441+16341A>T) c.*520T>A (n.*520T>A) c.1695T>A (p.Ala565=) c.276+16341A>T (n.276+16341A>T) c.*220+6203T>A (n.*220+6203T>A) c.819T>A (p.Ala273=) c.846T>A (p.Ala282=) c.1701T>A (p.Ala567=) c.1515T>A (p.Ala505=) c.1434T>A (p.Ala478=) c.1140T>A (p.Ala380=) c.1521T>A (p.Ala507=) | |
2 | g.48688022G>A | CA346744586 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1775C>T (p.Ala592Val) c.*87C>T (n.*87C>T) c.3441+16342G>A (n.3441+16342G>A) c.*519C>T (n.*519C>T) c.1694C>T (p.Ala565Val) c.276+16342G>A (n.276+16342G>A) c.*220+6202C>T (n.*220+6202C>T) c.818C>T (p.Ala273Val) c.845C>T (p.Ala282Val) c.1700C>T (p.Ala567Val) c.1514C>T (p.Ala505Val) c.1433C>T (p.Ala478Val) c.1139C>T (p.Ala380Val) c.1520C>T (p.Ala507Val) | |
2 | g.48688022G>C | CA346744588 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1775C>G (p.Ala592Gly) c.*87C>G (n.*87C>G) c.3441+16342G>C (n.3441+16342G>C) c.*519C>G (n.*519C>G) c.1694C>G (p.Ala565Gly) c.276+16342G>C (n.276+16342G>C) c.*220+6202C>G (n.*220+6202C>G) c.818C>G (p.Ala273Gly) c.845C>G (p.Ala282Gly) c.1700C>G (p.Ala567Gly) c.1514C>G (p.Ala505Gly) c.1433C>G (p.Ala478Gly) c.1139C>G (p.Ala380Gly) c.1520C>G (p.Ala507Gly) | |
2 | g.48688022G>T | CA346744590 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1775C>A (p.Ala592Asp) c.*87C>A (n.*87C>A) c.3441+16342G>T (n.3441+16342G>T) c.*519C>A (n.*519C>A) c.1694C>A (p.Ala565Asp) c.276+16342G>T (n.276+16342G>T) c.*220+6202C>A (n.*220+6202C>A) c.818C>A (p.Ala273Asp) c.845C>A (p.Ala282Asp) c.1700C>A (p.Ala567Asp) c.1514C>A (p.Ala505Asp) c.1433C>A (p.Ala478Asp) c.1139C>A (p.Ala380Asp) c.1520C>A (p.Ala507Asp) | |
2 | g.48688023C>A | CA346744593 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1774G>T (p.Ala592Ser) c.*86G>T (n.*86G>T) c.3441+16343C>A (n.3441+16343C>A) c.*518G>T (n.*518G>T) c.1693G>T (p.Ala565Ser) c.276+16343C>A (n.276+16343C>A) c.*220+6201G>T (n.*220+6201G>T) c.817G>T (p.Ala273Ser) c.844G>T (p.Ala282Ser) c.1699G>T (p.Ala567Ser) c.1513G>T (p.Ala505Ser) c.1432G>T (p.Ala478Ser) c.1138G>T (p.Ala380Ser) c.1519G>T (p.Ala507Ser) | |
2 | g.48688023C>G | CA346744595 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1774G>C (p.Ala592Pro) c.*86G>C (n.*86G>C) c.3441+16343C>G (n.3441+16343C>G) c.*518G>C (n.*518G>C) c.1693G>C (p.Ala565Pro) c.276+16343C>G (n.276+16343C>G) c.*220+6201G>C (n.*220+6201G>C) c.817G>C (p.Ala273Pro) c.844G>C (p.Ala282Pro) c.1699G>C (p.Ala567Pro) c.1513G>C (p.Ala505Pro) c.1432G>C (p.Ala478Pro) c.1138G>C (p.Ala380Pro) c.1519G>C (p.Ala507Pro) | |
2 | g.48688023C>T | CA346744596 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1774G>A (p.Ala592Thr) c.*86G>A (n.*86G>A) c.3441+16343C>T (n.3441+16343C>T) c.*518G>A (n.*518G>A) c.1693G>A (p.Ala565Thr) c.276+16343C>T (n.276+16343C>T) c.*220+6201G>A (n.*220+6201G>A) c.817G>A (p.Ala273Thr) c.844G>A (p.Ala282Thr) c.1699G>A (p.Ala567Thr) c.1513G>A (p.Ala505Thr) c.1432G>A (p.Ala478Thr) c.1138G>A (p.Ala380Thr) c.1519G>A (p.Ala507Thr) | gnomAD v4 |
2 | g.48688024T>A | CA426124899 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1773A>T (p.Ser591=) c.*85A>T (n.*85A>T) c.3441+16344T>A (n.3441+16344T>A) c.*517A>T (n.*517A>T) c.1692A>T (p.Ser564=) c.276+16344T>A (n.276+16344T>A) c.*220+6200A>T (n.*220+6200A>T) c.816A>T (p.Ser272=) c.843A>T (p.Ser281=) c.1698A>T (p.Ser566=) c.1512A>T (p.Ser504=) c.1431A>T (p.Ser477=) c.1137A>T (p.Ser379=) c.1518A>T (p.Ser506=) | |
2 | g.48688024T>C | CA426124901 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1773A>G (p.Ser591=) c.*85A>G (n.*85A>G) c.3441+16344T>C (n.3441+16344T>C) c.*517A>G (n.*517A>G) c.1692A>G (p.Ser564=) c.276+16344T>C (n.276+16344T>C) c.*220+6200A>G (n.*220+6200A>G) c.816A>G (p.Ser272=) c.843A>G (p.Ser281=) c.1698A>G (p.Ser566=) c.1512A>G (p.Ser504=) c.1431A>G (p.Ser477=) c.1137A>G (p.Ser379=) c.1518A>G (p.Ser506=) | |
2 | g.48688024T>G | CA426124900 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1773A>C (p.Ser591=) c.*85A>C (n.*85A>C) c.3441+16344T>G (n.3441+16344T>G) c.*517A>C (n.*517A>C) c.1692A>C (p.Ser564=) c.276+16344T>G (n.276+16344T>G) c.*220+6200A>C (n.*220+6200A>C) c.816A>C (p.Ser272=) c.843A>C (p.Ser281=) c.1698A>C (p.Ser566=) c.1512A>C (p.Ser504=) c.1431A>C (p.Ser477=) c.1137A>C (p.Ser379=) c.1518A>C (p.Ser506=) | gnomAD v4 |
2 | g.48688025G>A | CA346744599 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1772C>T (p.Ser591Leu) c.*84C>T (n.*84C>T) c.3441+16345G>A (n.3441+16345G>A) c.*516C>T (n.*516C>T) c.1691C>T (p.Ser564Leu) c.276+16345G>A (n.276+16345G>A) c.*220+6199C>T (n.*220+6199C>T) c.815C>T (p.Ser272Leu) c.842C>T (p.Ser281Leu) c.1697C>T (p.Ser566Leu) c.1511C>T (p.Ser504Leu) c.1430C>T (p.Ser477Leu) c.1136C>T (p.Ser379Leu) c.1517C>T (p.Ser506Leu) | |
2 | g.48688025G>C | CA346744602 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1772C>G (p.Ser591Ter) c.*84C>G (n.*84C>G) c.3441+16345G>C (n.3441+16345G>C) c.*516C>G (n.*516C>G) c.1691C>G (p.Ser564Ter) c.276+16345G>C (n.276+16345G>C) c.*220+6199C>G (n.*220+6199C>G) c.815C>G (p.Ser272Ter) c.842C>G (p.Ser281Ter) c.1697C>G (p.Ser566Ter) c.1511C>G (p.Ser504Ter) c.1430C>G (p.Ser477Ter) c.1136C>G (p.Ser379Ter) c.1517C>G (p.Ser506Ter) | |
2 | g.48688025G>T | CA346744598 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1772C>A (p.Ser591Ter) c.*84C>A (n.*84C>A) c.3441+16345G>T (n.3441+16345G>T) c.*516C>A (n.*516C>A) c.1691C>A (p.Ser564Ter) c.276+16345G>T (n.276+16345G>T) c.*220+6199C>A (n.*220+6199C>A) c.815C>A (p.Ser272Ter) c.842C>A (p.Ser281Ter) c.1697C>A (p.Ser566Ter) c.1511C>A (p.Ser504Ter) c.1430C>A (p.Ser477Ter) c.1136C>A (p.Ser379Ter) c.1517C>A (p.Ser506Ter) | dbSNP |
2 | g.48688026A>C | CA346744608 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1771T>G (p.Ser591Ala) c.*83T>G (n.*83T>G) c.3441+16346A>C (n.3441+16346A>C) c.*515T>G (n.*515T>G) c.1690T>G (p.Ser564Ala) c.276+16346A>C (n.276+16346A>C) c.*220+6198T>G (n.*220+6198T>G) c.814T>G (p.Ser272Ala) c.841T>G (p.Ser281Ala) c.1696T>G (p.Ser566Ala) c.1510T>G (p.Ser504Ala) c.1429T>G (p.Ser477Ala) c.1135T>G (p.Ser379Ala) c.1516T>G (p.Ser506Ala) | |
2 | g.48688026A>G | CA346744605 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1771T>C (p.Ser591Pro) c.*83T>C (n.*83T>C) c.3441+16346A>G (n.3441+16346A>G) c.*515T>C (n.*515T>C) c.1690T>C (p.Ser564Pro) c.276+16346A>G (n.276+16346A>G) c.*220+6198T>C (n.*220+6198T>C) c.814T>C (p.Ser272Pro) c.841T>C (p.Ser281Pro) c.1696T>C (p.Ser566Pro) c.1510T>C (p.Ser504Pro) c.1429T>C (p.Ser477Pro) c.1135T>C (p.Ser379Pro) c.1516T>C (p.Ser506Pro) | |
2 | g.48688026A>T | CA346744617 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1771T>A (p.Ser591Thr) c.*83T>A (n.*83T>A) c.3441+16346A>T (n.3441+16346A>T) c.*515T>A (n.*515T>A) c.1690T>A (p.Ser564Thr) c.276+16346A>T (n.276+16346A>T) c.*220+6198T>A (n.*220+6198T>A) c.814T>A (p.Ser272Thr) c.841T>A (p.Ser281Thr) c.1696T>A (p.Ser566Thr) c.1510T>A (p.Ser504Thr) c.1429T>A (p.Ser477Thr) c.1135T>A (p.Ser379Thr) c.1516T>A (p.Ser506Thr) | |
2 | g.48688027G>A | CA426124902 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1770C>T (p.Ile590=) c.*82C>T (n.*82C>T) c.3441+16347G>A (n.3441+16347G>A) c.*514C>T (n.*514C>T) c.1689C>T (p.Ile563=) c.276+16347G>A (n.276+16347G>A) c.*220+6197C>T (n.*220+6197C>T) c.813C>T (p.Ile271=) c.840C>T (p.Ile280=) c.1695C>T (p.Ile565=) c.1509C>T (p.Ile503=) c.1428C>T (p.Ile476=) c.1134C>T (p.Ile378=) c.1515C>T (p.Ile505=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688027G>C | CA346744620 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1770C>G (p.Ile590Met) c.*82C>G (n.*82C>G) c.3441+16347G>C (n.3441+16347G>C) c.*514C>G (n.*514C>G) c.1689C>G (p.Ile563Met) c.276+16347G>C (n.276+16347G>C) c.*220+6197C>G (n.*220+6197C>G) c.813C>G (p.Ile271Met) c.840C>G (p.Ile280Met) c.1695C>G (p.Ile565Met) c.1509C>G (p.Ile503Met) c.1428C>G (p.Ile476Met) c.1134C>G (p.Ile378Met) c.1515C>G (p.Ile505Met) | |
2 | g.48688027G= | CA1248600952 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1770C= (p.Ile590=) c.*82C= (n.*82C=) c.3441+16347G= (n.3441+16347G=) c.*514C= (n.*514C=) c.1689C= (p.Ile563=) c.276+16347G= (n.276+16347G=) c.*220+6197C= (n.*220+6197C=) c.813C= (p.Ile271=) c.840C= (p.Ile280=) c.1695C= (p.Ile565=) c.1509C= (p.Ile503=) c.1428C= (p.Ile476=) c.1134C= (p.Ile378=) c.1515C= (p.Ile505=) | |
2 | g.48688027G>T | CA426124903 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1770C>A (p.Ile590=) c.*82C>A (n.*82C>A) c.3441+16347G>T (n.3441+16347G>T) c.*514C>A (n.*514C>A) c.1689C>A (p.Ile563=) c.276+16347G>T (n.276+16347G>T) c.*220+6197C>A (n.*220+6197C>A) c.813C>A (p.Ile271=) c.840C>A (p.Ile280=) c.1695C>A (p.Ile565=) c.1509C>A (p.Ile503=) c.1428C>A (p.Ile476=) c.1134C>A (p.Ile378=) c.1515C>A (p.Ile505=) | |
2 | g.48688028A= | CA1248600953 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1769T= (p.Ile590=) c.*81T= (n.*81T=) c.3441+16348A= (n.3441+16348A=) c.*513T= (n.*513T=) c.1688T= (p.Ile563=) c.276+16348A= (n.276+16348A=) c.*220+6196T= (n.*220+6196T=) c.812T= (p.Ile271=) c.839T= (p.Ile280=) c.1694T= (p.Ile565=) c.1508T= (p.Ile503=) c.1427T= (p.Ile476=) c.1133T= (p.Ile378=) c.1514T= (p.Ile505=) | |
2 | g.48688028A>C | CA346744622 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1769T>G (p.Ile590Ser) c.*81T>G (n.*81T>G) c.3441+16348A>C (n.3441+16348A>C) c.*513T>G (n.*513T>G) c.1688T>G (p.Ile563Ser) c.276+16348A>C (n.276+16348A>C) c.*220+6196T>G (n.*220+6196T>G) c.812T>G (p.Ile271Ser) c.839T>G (p.Ile280Ser) c.1694T>G (p.Ile565Ser) c.1508T>G (p.Ile503Ser) c.1427T>G (p.Ile476Ser) c.1133T>G (p.Ile378Ser) c.1514T>G (p.Ile505Ser) | |
2 | g.48688028A>G | CA1652992 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1769T>C (p.Ile590Thr) c.*81T>C (n.*81T>C) c.3441+16348A>G (n.3441+16348A>G) c.*513T>C (n.*513T>C) c.1688T>C (p.Ile563Thr) c.276+16348A>G (n.276+16348A>G) c.*220+6196T>C (n.*220+6196T>C) c.812T>C (p.Ile271Thr) c.839T>C (p.Ile280Thr) c.1694T>C (p.Ile565Thr) c.1508T>C (p.Ile503Thr) c.1427T>C (p.Ile476Thr) c.1133T>C (p.Ile378Thr) c.1514T>C (p.Ile505Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688028A>T | CA346744625 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1769T>A (p.Ile590Asn) c.*81T>A (n.*81T>A) c.3441+16348A>T (n.3441+16348A>T) c.*513T>A (n.*513T>A) c.1688T>A (p.Ile563Asn) c.276+16348A>T (n.276+16348A>T) c.*220+6196T>A (n.*220+6196T>A) c.812T>A (p.Ile271Asn) c.839T>A (p.Ile280Asn) c.1694T>A (p.Ile565Asn) c.1508T>A (p.Ile503Asn) c.1427T>A (p.Ile476Asn) c.1133T>A (p.Ile378Asn) c.1514T>A (p.Ile505Asn) | dbSNP |
2 | g.48688029T>A | CA346744628 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1768A>T (p.Ile590Phe) c.*80A>T (n.*80A>T) c.3441+16349T>A (n.3441+16349T>A) c.*512A>T (n.*512A>T) c.1687A>T (p.Ile563Phe) c.276+16349T>A (n.276+16349T>A) c.*220+6195A>T (n.*220+6195A>T) c.811A>T (p.Ile271Phe) c.838A>T (p.Ile280Phe) c.1693A>T (p.Ile565Phe) c.1507A>T (p.Ile503Phe) c.1426A>T (p.Ile476Phe) c.1132A>T (p.Ile378Phe) c.1513A>T (p.Ile505Phe) | |
2 | g.48688029T>C | CA1652993 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1768A>G (p.Ile590Val) c.*80A>G (n.*80A>G) c.3441+16349T>C (n.3441+16349T>C) c.*512A>G (n.*512A>G) c.1687A>G (p.Ile563Val) c.276+16349T>C (n.276+16349T>C) c.*220+6195A>G (n.*220+6195A>G) c.811A>G (p.Ile271Val) c.838A>G (p.Ile280Val) c.1693A>G (p.Ile565Val) c.1507A>G (p.Ile503Val) c.1426A>G (p.Ile476Val) c.1132A>G (p.Ile378Val) c.1513A>G (p.Ile505Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688029T>G | CA346744635 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1768A>C (p.Ile590Leu) c.*80A>C (n.*80A>C) c.3441+16349T>G (n.3441+16349T>G) c.*512A>C (n.*512A>C) c.1687A>C (p.Ile563Leu) c.276+16349T>G (n.276+16349T>G) c.*220+6195A>C (n.*220+6195A>C) c.811A>C (p.Ile271Leu) c.838A>C (p.Ile280Leu) c.1693A>C (p.Ile565Leu) c.1507A>C (p.Ile503Leu) c.1426A>C (p.Ile476Leu) c.1132A>C (p.Ile378Leu) c.1513A>C (p.Ile505Leu) | |
2 | g.48688029T= | CA1248600954 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1768A= (p.Ile590=) c.*80A= (n.*80A=) c.3441+16349T= (n.3441+16349T=) c.*512A= (n.*512A=) c.1687A= (p.Ile563=) c.276+16349T= (n.276+16349T=) c.*220+6195A= (n.*220+6195A=) c.811A= (p.Ile271=) c.838A= (p.Ile280=) c.1693A= (p.Ile565=) c.1507A= (p.Ile503=) c.1426A= (p.Ile476=) c.1132A= (p.Ile378=) c.1513A= (p.Ile505=) | |
2 | g.48688030G>A | CA426124904 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1767C>T (p.Ala589=) c.*79C>T (n.*79C>T) c.3441+16350G>A (n.3441+16350G>A) c.*511C>T (n.*511C>T) c.1686C>T (p.Ala562=) c.276+16350G>A (n.276+16350G>A) c.*220+6194C>T (n.*220+6194C>T) c.810C>T (p.Ala270=) c.837C>T (p.Ala279=) c.1692C>T (p.Ala564=) c.1506C>T (p.Ala502=) c.1425C>T (p.Ala475=) c.1131C>T (p.Ala377=) c.1512C>T (p.Ala504=) | |
2 | g.48688030G>C | CA426124905 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1767C>G (p.Ala589=) c.*79C>G (n.*79C>G) c.3441+16350G>C (n.3441+16350G>C) c.*511C>G (n.*511C>G) c.1686C>G (p.Ala562=) c.276+16350G>C (n.276+16350G>C) c.*220+6194C>G (n.*220+6194C>G) c.810C>G (p.Ala270=) c.837C>G (p.Ala279=) c.1692C>G (p.Ala564=) c.1506C>G (p.Ala502=) c.1425C>G (p.Ala475=) c.1131C>G (p.Ala377=) c.1512C>G (p.Ala504=) | |
2 | g.48688030G>T | CA426124906 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1767C>A (p.Ala589=) c.*79C>A (n.*79C>A) c.3441+16350G>T (n.3441+16350G>T) c.*511C>A (n.*511C>A) c.1686C>A (p.Ala562=) c.276+16350G>T (n.276+16350G>T) c.*220+6194C>A (n.*220+6194C>A) c.810C>A (p.Ala270=) c.837C>A (p.Ala279=) c.1692C>A (p.Ala564=) c.1506C>A (p.Ala502=) c.1425C>A (p.Ala475=) c.1131C>A (p.Ala377=) c.1512C>A (p.Ala504=) | |
2 | g.48688031G>A | CA46752774 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1766C>T (p.Ala589Val) c.*78C>T (n.*78C>T) c.3441+16351G>A (n.3441+16351G>A) c.*510C>T (n.*510C>T) c.1685C>T (p.Ala562Val) c.276+16351G>A (n.276+16351G>A) c.*220+6193C>T (n.*220+6193C>T) c.809C>T (p.Ala270Val) c.836C>T (p.Ala279Val) c.1691C>T (p.Ala564Val) c.1505C>T (p.Ala502Val) c.1424C>T (p.Ala475Val) c.1130C>T (p.Ala377Val) c.1511C>T (p.Ala504Val) | dbSNP COSMIC |
2 | g.48688031G>C | CA346744639 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1766C>G (p.Ala589Gly) c.*78C>G (n.*78C>G) c.3441+16351G>C (n.3441+16351G>C) c.*510C>G (n.*510C>G) c.1685C>G (p.Ala562Gly) c.276+16351G>C (n.276+16351G>C) c.*220+6193C>G (n.*220+6193C>G) c.809C>G (p.Ala270Gly) c.836C>G (p.Ala279Gly) c.1691C>G (p.Ala564Gly) c.1505C>G (p.Ala502Gly) c.1424C>G (p.Ala475Gly) c.1130C>G (p.Ala377Gly) c.1511C>G (p.Ala504Gly) | |
2 | g.48688031G= | CA1248600955 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1766C= (p.Ala589=) c.*78C= (n.*78C=) c.3441+16351G= (n.3441+16351G=) c.*510C= (n.*510C=) c.1685C= (p.Ala562=) c.276+16351G= (n.276+16351G=) c.*220+6193C= (n.*220+6193C=) c.809C= (p.Ala270=) c.836C= (p.Ala279=) c.1691C= (p.Ala564=) c.1505C= (p.Ala502=) c.1424C= (p.Ala475=) c.1130C= (p.Ala377=) c.1511C= (p.Ala504=) | |
2 | g.48688031G>T | CA346744641 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1766C>A (p.Ala589Asp) c.*78C>A (n.*78C>A) c.3441+16351G>T (n.3441+16351G>T) c.*510C>A (n.*510C>A) c.1685C>A (p.Ala562Asp) c.276+16351G>T (n.276+16351G>T) c.*220+6193C>A (n.*220+6193C>A) c.809C>A (p.Ala270Asp) c.836C>A (p.Ala279Asp) c.1691C>A (p.Ala564Asp) c.1505C>A (p.Ala502Asp) c.1424C>A (p.Ala475Asp) c.1130C>A (p.Ala377Asp) c.1511C>A (p.Ala504Asp) | |
2 | g.48688032C>A | CA346744645 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1765G>T (p.Ala589Ser) c.*77G>T (n.*77G>T) c.3441+16352C>A (n.3441+16352C>A) c.*509G>T (n.*509G>T) c.1684G>T (p.Ala562Ser) c.276+16352C>A (n.276+16352C>A) c.*220+6192G>T (n.*220+6192G>T) c.808G>T (p.Ala270Ser) c.835G>T (p.Ala279Ser) c.1690G>T (p.Ala564Ser) c.1504G>T (p.Ala502Ser) c.1423G>T (p.Ala475Ser) c.1129G>T (p.Ala377Ser) c.1510G>T (p.Ala504Ser) | |
2 | g.48688032C= | CA1248600956 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1765G= (p.Ala589=) c.*77G= (n.*77G=) c.3441+16352C= (n.3441+16352C=) c.*509G= (n.*509G=) c.1684G= (p.Ala562=) c.276+16352C= (n.276+16352C=) c.*220+6192G= (n.*220+6192G=) c.808G= (p.Ala270=) c.835G= (p.Ala279=) c.1690G= (p.Ala564=) c.1504G= (p.Ala502=) c.1423G= (p.Ala475=) c.1129G= (p.Ala377=) c.1510G= (p.Ala504=) | |
2 | g.48688032C>G | CA346744647 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1765G>C (p.Ala589Pro) c.*77G>C (n.*77G>C) c.3441+16352C>G (n.3441+16352C>G) c.*509G>C (n.*509G>C) c.1684G>C (p.Ala562Pro) c.276+16352C>G (n.276+16352C>G) c.*220+6192G>C (n.*220+6192G>C) c.808G>C (p.Ala270Pro) c.835G>C (p.Ala279Pro) c.1690G>C (p.Ala564Pro) c.1504G>C (p.Ala502Pro) c.1423G>C (p.Ala475Pro) c.1129G>C (p.Ala377Pro) c.1510G>C (p.Ala504Pro) | |
2 | g.48688032C>T | CA346744651 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1765G>A (p.Ala589Thr) c.*77G>A (n.*77G>A) c.3441+16352C>T (n.3441+16352C>T) c.*509G>A (n.*509G>A) c.1684G>A (p.Ala562Thr) c.276+16352C>T (n.276+16352C>T) c.*220+6192G>A (n.*220+6192G>A) c.808G>A (p.Ala270Thr) c.835G>A (p.Ala279Thr) c.1690G>A (p.Ala564Thr) c.1504G>A (p.Ala502Thr) c.1423G>A (p.Ala475Thr) c.1129G>A (p.Ala377Thr) c.1510G>A (p.Ala504Thr) | |
2 | g.48688033A= | CA1248600957 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1764T= (p.Phe588=) c.*76T= (n.*76T=) c.3441+16353A= (n.3441+16353A=) c.*508T= (n.*508T=) c.1683T= (p.Phe561=) c.276+16353A= (n.276+16353A=) c.*220+6191T= (n.*220+6191T=) c.807T= (p.Phe269=) c.834T= (p.Phe278=) c.1689T= (p.Phe563=) c.1503T= (p.Phe501=) c.1422T= (p.Phe474=) c.1128T= (p.Phe376=) c.1509T= (p.Phe503=) | |
2 | g.48688033A>C | CA346744655 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1764T>G (p.Phe588Leu) c.*76T>G (n.*76T>G) c.3441+16353A>C (n.3441+16353A>C) c.*508T>G (n.*508T>G) c.1683T>G (p.Phe561Leu) c.276+16353A>C (n.276+16353A>C) c.*220+6191T>G (n.*220+6191T>G) c.807T>G (p.Phe269Leu) c.834T>G (p.Phe278Leu) c.1689T>G (p.Phe563Leu) c.1503T>G (p.Phe501Leu) c.1422T>G (p.Phe474Leu) c.1128T>G (p.Phe376Leu) c.1509T>G (p.Phe503Leu) | |
2 | g.48688033A>G | CA426124907 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1764T>C (p.Phe588=) c.*76T>C (n.*76T>C) c.3441+16353A>G (n.3441+16353A>G) c.*508T>C (n.*508T>C) c.1683T>C (p.Phe561=) c.276+16353A>G (n.276+16353A>G) c.*220+6191T>C (n.*220+6191T>C) c.807T>C (p.Phe269=) c.834T>C (p.Phe278=) c.1689T>C (p.Phe563=) c.1503T>C (p.Phe501=) c.1422T>C (p.Phe474=) c.1128T>C (p.Phe376=) c.1509T>C (p.Phe503=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688033A>T | CA346744656 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1764T>A (p.Phe588Leu) c.*76T>A (n.*76T>A) c.3441+16353A>T (n.3441+16353A>T) c.*508T>A (n.*508T>A) c.1683T>A (p.Phe561Leu) c.276+16353A>T (n.276+16353A>T) c.*220+6191T>A (n.*220+6191T>A) c.807T>A (p.Phe269Leu) c.834T>A (p.Phe278Leu) c.1689T>A (p.Phe563Leu) c.1503T>A (p.Phe501Leu) c.1422T>A (p.Phe474Leu) c.1128T>A (p.Phe376Leu) c.1509T>A (p.Phe503Leu) | |
2 | g.48688039dup | CA532706158 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1764dup (p.Ala589CysfsTer17) c.*76dup (n.*76dup) c.3441+16359dup (n.3441+16359dup) c.*508dup (n.*508dup) c.1683dup (p.Ala562CysfsTer17) c.276+16359dup (n.276+16359dup) c.*220+6191dup (n.*220+6191dup) c.807dup (p.Ala270CysfsTer17) c.834dup (p.Ala279CysfsTer17) c.1689dup (p.Ala564CysfsTer17) c.1503dup (p.Ala502CysfsTer17) c.1422dup (p.Ala475CysfsTer17) c.1128dup (p.Ala377CysfsTer17) c.1509dup (p.Ala504CysfsTer17) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.48688039del | CA426124908 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1764del (p.Phe588LeufsTer14) c.*76del (n.*76del) c.3441+16359del (n.3441+16359del) c.*508del (n.*508del) c.1683del (p.Phe561LeufsTer14) c.276+16359del (n.276+16359del) c.*220+6191del (n.*220+6191del) c.807del (p.Phe269LeufsTer14) c.834del (p.Phe278LeufsTer14) c.1689del (p.Phe563LeufsTer14) c.1503del (p.Phe501LeufsTer14) c.1422del (p.Phe474LeufsTer14) c.1128del (p.Phe376LeufsTer14) c.1509del (p.Phe503LeufsTer14) | COSMIC |
2 | g.48688033_48688034insT | CA426124909 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1763_1764insA (p.Phe588LeufsTer18) c.*75_*76insA (n.*75_*76insA) c.3441+16353_3441+16354insT (n.3441+16353_3441+16354insT) c.*507_*508insA (n.*507_*508insA) c.1682_1683insA (p.Phe561LeufsTer18) c.276+16353_276+16354insT (n.276+16353_276+16354insT) c.*220+6190_*220+6191insA (n.*220+6190_*220+6191insA) c.806_807insA (p.Phe269LeufsTer18) c.833_834insA (p.Phe278LeufsTer18) c.1688_1689insA (p.Phe563LeufsTer18) c.1502_1503insA (p.Phe501LeufsTer18) c.1421_1422insA (p.Phe474LeufsTer18) c.1127_1128insA (p.Phe376LeufsTer18) c.1508_1509insA (p.Phe503LeufsTer18) | |
2 | g.48688034A>C | CA346744660 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1763T>G (p.Phe588Cys) c.*75T>G (n.*75T>G) c.3441+16354A>C (n.3441+16354A>C) c.*507T>G (n.*507T>G) c.1682T>G (p.Phe561Cys) c.276+16354A>C (n.276+16354A>C) c.*220+6190T>G (n.*220+6190T>G) c.806T>G (p.Phe269Cys) c.833T>G (p.Phe278Cys) c.1688T>G (p.Phe563Cys) c.1502T>G (p.Phe501Cys) c.1421T>G (p.Phe474Cys) c.1127T>G (p.Phe376Cys) c.1508T>G (p.Phe503Cys) | |
2 | g.48688034A>G | CA346744664 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1763T>C (p.Phe588Ser) c.*75T>C (n.*75T>C) c.3441+16354A>G (n.3441+16354A>G) c.*507T>C (n.*507T>C) c.1682T>C (p.Phe561Ser) c.276+16354A>G (n.276+16354A>G) c.*220+6190T>C (n.*220+6190T>C) c.806T>C (p.Phe269Ser) c.833T>C (p.Phe278Ser) c.1688T>C (p.Phe563Ser) c.1502T>C (p.Phe501Ser) c.1421T>C (p.Phe474Ser) c.1127T>C (p.Phe376Ser) c.1508T>C (p.Phe503Ser) | |
2 | g.48688034A>T | CA346744668 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1763T>A (p.Phe588Tyr) c.*75T>A (n.*75T>A) c.3441+16354A>T (n.3441+16354A>T) c.*507T>A (n.*507T>A) c.1682T>A (p.Phe561Tyr) c.276+16354A>T (n.276+16354A>T) c.*220+6190T>A (n.*220+6190T>A) c.806T>A (p.Phe269Tyr) c.833T>A (p.Phe278Tyr) c.1688T>A (p.Phe563Tyr) c.1502T>A (p.Phe501Tyr) c.1421T>A (p.Phe474Tyr) c.1127T>A (p.Phe376Tyr) c.1508T>A (p.Phe503Tyr) | |
2 | g.48688035A>C | CA346744671 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1762T>G (p.Phe588Val) c.*74T>G (n.*74T>G) c.3441+16355A>C (n.3441+16355A>C) c.*506T>G (n.*506T>G) c.1681T>G (p.Phe561Val) c.276+16355A>C (n.276+16355A>C) c.*220+6189T>G (n.*220+6189T>G) c.805T>G (p.Phe269Val) c.832T>G (p.Phe278Val) c.1687T>G (p.Phe563Val) c.1501T>G (p.Phe501Val) c.1420T>G (p.Phe474Val) c.1126T>G (p.Phe376Val) c.1507T>G (p.Phe503Val) | |
2 | g.48688035A>G | CA346744675 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1762T>C (p.Phe588Leu) c.*74T>C (n.*74T>C) c.3441+16355A>G (n.3441+16355A>G) c.*506T>C (n.*506T>C) c.1681T>C (p.Phe561Leu) c.276+16355A>G (n.276+16355A>G) c.*220+6189T>C (n.*220+6189T>C) c.805T>C (p.Phe269Leu) c.832T>C (p.Phe278Leu) c.1687T>C (p.Phe563Leu) c.1501T>C (p.Phe501Leu) c.1420T>C (p.Phe474Leu) c.1126T>C (p.Phe376Leu) c.1507T>C (p.Phe503Leu) | |
2 | g.48688035A>T | CA346744677 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1762T>A (p.Phe588Ile) c.*74T>A (n.*74T>A) c.3441+16355A>T (n.3441+16355A>T) c.*506T>A (n.*506T>A) c.1681T>A (p.Phe561Ile) c.276+16355A>T (n.276+16355A>T) c.*220+6189T>A (n.*220+6189T>A) c.805T>A (p.Phe269Ile) c.832T>A (p.Phe278Ile) c.1687T>A (p.Phe563Ile) c.1501T>A (p.Phe501Ile) c.1420T>A (p.Phe474Ile) c.1126T>A (p.Phe376Ile) c.1507T>A (p.Phe503Ile) | |
2 | g.48688036A>C | CA346744680 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1761T>G (p.Phe587Leu) c.*73T>G (n.*73T>G) c.3441+16356A>C (n.3441+16356A>C) c.*505T>G (n.*505T>G) c.1680T>G (p.Phe560Leu) c.276+16356A>C (n.276+16356A>C) c.*220+6188T>G (n.*220+6188T>G) c.804T>G (p.Phe268Leu) c.831T>G (p.Phe277Leu) c.1686T>G (p.Phe562Leu) c.1500T>G (p.Phe500Leu) c.1419T>G (p.Phe473Leu) c.1125T>G (p.Phe375Leu) c.1506T>G (p.Phe502Leu) | |
2 | g.48688036A>G | CA426124910 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1761T>C (p.Phe587=) c.*73T>C (n.*73T>C) c.3441+16356A>G (n.3441+16356A>G) c.*505T>C (n.*505T>C) c.1680T>C (p.Phe560=) c.276+16356A>G (n.276+16356A>G) c.*220+6188T>C (n.*220+6188T>C) c.804T>C (p.Phe268=) c.831T>C (p.Phe277=) c.1686T>C (p.Phe562=) c.1500T>C (p.Phe500=) c.1419T>C (p.Phe473=) c.1125T>C (p.Phe375=) c.1506T>C (p.Phe502=) | |
2 | g.48688036A>T | CA346744684 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1761T>A (p.Phe587Leu) c.*73T>A (n.*73T>A) c.3441+16356A>T (n.3441+16356A>T) c.*505T>A (n.*505T>A) c.1680T>A (p.Phe560Leu) c.276+16356A>T (n.276+16356A>T) c.*220+6188T>A (n.*220+6188T>A) c.804T>A (p.Phe268Leu) c.831T>A (p.Phe277Leu) c.1686T>A (p.Phe562Leu) c.1500T>A (p.Phe500Leu) c.1419T>A (p.Phe473Leu) c.1125T>A (p.Phe375Leu) c.1506T>A (p.Phe502Leu) | |
2 | g.48688037A>C | CA346744685 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1760T>G (p.Phe587Cys) c.*72T>G (n.*72T>G) c.3441+16357A>C (n.3441+16357A>C) c.*504T>G (n.*504T>G) c.1679T>G (p.Phe560Cys) c.276+16357A>C (n.276+16357A>C) c.*220+6187T>G (n.*220+6187T>G) c.803T>G (p.Phe268Cys) c.830T>G (p.Phe277Cys) c.1685T>G (p.Phe562Cys) c.1499T>G (p.Phe500Cys) c.1418T>G (p.Phe473Cys) c.1124T>G (p.Phe375Cys) c.1505T>G (p.Phe502Cys) | |
2 | g.48688037A>G | CA346744686 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1760T>C (p.Phe587Ser) c.*72T>C (n.*72T>C) c.3441+16357A>G (n.3441+16357A>G) c.*504T>C (n.*504T>C) c.1679T>C (p.Phe560Ser) c.276+16357A>G (n.276+16357A>G) c.*220+6187T>C (n.*220+6187T>C) c.803T>C (p.Phe268Ser) c.830T>C (p.Phe277Ser) c.1685T>C (p.Phe562Ser) c.1499T>C (p.Phe500Ser) c.1418T>C (p.Phe473Ser) c.1124T>C (p.Phe375Ser) c.1505T>C (p.Phe502Ser) | |
2 | g.48688037A>T | CA346744687 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1760T>A (p.Phe587Tyr) c.*72T>A (n.*72T>A) c.3441+16357A>T (n.3441+16357A>T) c.*504T>A (n.*504T>A) c.1679T>A (p.Phe560Tyr) c.276+16357A>T (n.276+16357A>T) c.*220+6187T>A (n.*220+6187T>A) c.803T>A (p.Phe268Tyr) c.830T>A (p.Phe277Tyr) c.1685T>A (p.Phe562Tyr) c.1499T>A (p.Phe500Tyr) c.1418T>A (p.Phe473Tyr) c.1124T>A (p.Phe375Tyr) c.1505T>A (p.Phe502Tyr) | |
2 | g.48688037_48688038insTGGCTTCACTGGATC | CA2520066976 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1759_1760insGATCCAGTGAAGCCA (p.Phe587Ter) c.*71_*72insGATCCAGTGAAGCCA (n.*71_*72insGATCCAGTGAAGCCA) c.3441+16357_3441+16358insTGGCTTCACTGGATC (n.3441+16357_3441+16358insTGGCTTCACTGGATC) c.*503_*504insGATCCAGTGAAGCCA (n.*503_*504insGATCCAGTGAAGCCA) c.1678_1679insGATCCAGTGAAGCCA (p.Phe560Ter) c.276+16357_276+16358insTGGCTTCACTGGATC (n.276+16357_276+16358insTGGCTTCACTGGATC) c.*220+6186_*220+6187insGATCCAGTGAAGCCA (n.*220+6186_*220+6187insGATCCAGTGAAGCCA) c.802_803insGATCCAGTGAAGCCA (p.Phe268Ter) c.829_830insGATCCAGTGAAGCCA (p.Phe277Ter) c.1684_1685insGATCCAGTGAAGCCA (p.Phe562Ter) c.1498_1499insGATCCAGTGAAGCCA (p.Phe500Ter) c.1417_1418insGATCCAGTGAAGCCA (p.Phe473Ter) c.1123_1124insGATCCAGTGAAGCCA (p.Phe375Ter) c.1504_1505insGATCCAGTGAAGCCA (p.Phe502Ter) | |
2 | g.48688038A>C | CA346744693 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1759T>G (p.Phe587Val) c.*71T>G (n.*71T>G) c.3441+16358A>C (n.3441+16358A>C) c.*503T>G (n.*503T>G) c.1678T>G (p.Phe560Val) c.276+16358A>C (n.276+16358A>C) c.*220+6186T>G (n.*220+6186T>G) c.802T>G (p.Phe268Val) c.829T>G (p.Phe277Val) c.1684T>G (p.Phe562Val) c.1498T>G (p.Phe500Val) c.1417T>G (p.Phe473Val) c.1123T>G (p.Phe375Val) c.1504T>G (p.Phe502Val) | |
2 | g.48688038A>G | CA346744695 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1759T>C (p.Phe587Leu) c.*71T>C (n.*71T>C) c.3441+16358A>G (n.3441+16358A>G) c.*503T>C (n.*503T>C) c.1678T>C (p.Phe560Leu) c.276+16358A>G (n.276+16358A>G) c.*220+6186T>C (n.*220+6186T>C) c.802T>C (p.Phe268Leu) c.829T>C (p.Phe277Leu) c.1684T>C (p.Phe562Leu) c.1498T>C (p.Phe500Leu) c.1417T>C (p.Phe473Leu) c.1123T>C (p.Phe375Leu) c.1504T>C (p.Phe502Leu) | |
2 | g.48688038A>T | CA346744691 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1759T>A (p.Phe587Ile) c.*71T>A (n.*71T>A) c.3441+16358A>T (n.3441+16358A>T) c.*503T>A (n.*503T>A) c.1678T>A (p.Phe560Ile) c.276+16358A>T (n.276+16358A>T) c.*220+6186T>A (n.*220+6186T>A) c.802T>A (p.Phe268Ile) c.829T>A (p.Phe277Ile) c.1684T>A (p.Phe562Ile) c.1498T>A (p.Phe500Ile) c.1417T>A (p.Phe473Ile) c.1123T>A (p.Phe375Ile) c.1504T>A (p.Phe502Ile) | |
2 | g.48688039A= | CA1248600958 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1758T= (p.Ser586=) c.*70T= (n.*70T=) c.3441+16359A= (n.3441+16359A=) c.*502T= (n.*502T=) c.1677T= (p.Ser559=) c.276+16359A= (n.276+16359A=) c.*220+6185T= (n.*220+6185T=) c.801T= (p.Ser267=) c.828T= (p.Ser276=) c.1683T= (p.Ser561=) c.1497T= (p.Ser499=) c.1416T= (p.Ser472=) c.1122T= (p.Ser374=) c.1503T= (p.Ser501=) | |
2 | g.48688039A>C | CA426124911 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1758T>G (p.Ser586=) c.*70T>G (n.*70T>G) c.3441+16359A>C (n.3441+16359A>C) c.*502T>G (n.*502T>G) c.1677T>G (p.Ser559=) c.276+16359A>C (n.276+16359A>C) c.*220+6185T>G (n.*220+6185T>G) c.801T>G (p.Ser267=) c.828T>G (p.Ser276=) c.1683T>G (p.Ser561=) c.1497T>G (p.Ser499=) c.1416T>G (p.Ser472=) c.1122T>G (p.Ser374=) c.1503T>G (p.Ser501=) | |
2 | g.48688039A>G | CA426124912 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1758T>C (p.Ser586=) c.*70T>C (n.*70T>C) c.3441+16359A>G (n.3441+16359A>G) c.*502T>C (n.*502T>C) c.1677T>C (p.Ser559=) c.276+16359A>G (n.276+16359A>G) c.*220+6185T>C (n.*220+6185T>C) c.801T>C (p.Ser267=) c.828T>C (p.Ser276=) c.1683T>C (p.Ser561=) c.1497T>C (p.Ser499=) c.1416T>C (p.Ser472=) c.1122T>C (p.Ser374=) c.1503T>C (p.Ser501=) | |
2 | g.48688039A>T | CA426124913 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1758T>A (p.Ser586=) c.*70T>A (n.*70T>A) c.3441+16359A>T (n.3441+16359A>T) c.*502T>A (n.*502T>A) c.1677T>A (p.Ser559=) c.276+16359A>T (n.276+16359A>T) c.*220+6185T>A (n.*220+6185T>A) c.801T>A (p.Ser267=) c.828T>A (p.Ser276=) c.1683T>A (p.Ser561=) c.1497T>A (p.Ser499=) c.1416T>A (p.Ser472=) c.1122T>A (p.Ser374=) c.1503T>A (p.Ser501=) | dbSNP |
2 | g.48688042_48688043del | CA2586969302 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1757_1758del (p.Ser586PhefsTer19) c.*69_*70del (n.*69_*70del) c.3441+16362_3441+16363del (n.3441+16362_3441+16363del) c.*501_*502del (n.*501_*502del) c.1676_1677del (p.Ser559PhefsTer19) c.276+16362_276+16363del (n.276+16362_276+16363del) c.*220+6184_*220+6185del (n.*220+6184_*220+6185del) c.800_801del (p.Ser267PhefsTer19) c.827_828del (p.Ser276PhefsTer19) c.1682_1683del (p.Ser561PhefsTer19) c.1496_1497del (p.Ser499PhefsTer19) c.1415_1416del (p.Ser472PhefsTer19) c.1121_1122del (p.Ser374PhefsTer19) c.1502_1503del (p.Ser501PhefsTer19) | |
2 | g.48688040G>A | CA346744700 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1757C>T (p.Ser586Phe) c.*69C>T (n.*69C>T) c.3441+16360G>A (n.3441+16360G>A) c.*501C>T (n.*501C>T) c.1676C>T (p.Ser559Phe) c.276+16360G>A (n.276+16360G>A) c.*220+6184C>T (n.*220+6184C>T) c.800C>T (p.Ser267Phe) c.827C>T (p.Ser276Phe) c.1682C>T (p.Ser561Phe) c.1496C>T (p.Ser499Phe) c.1415C>T (p.Ser472Phe) c.1121C>T (p.Ser374Phe) c.1502C>T (p.Ser501Phe) | COSMIC |
2 | g.48688040G>C | CA346744710 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1757C>G (p.Ser586Cys) c.*69C>G (n.*69C>G) c.3441+16360G>C (n.3441+16360G>C) c.*501C>G (n.*501C>G) c.1676C>G (p.Ser559Cys) c.276+16360G>C (n.276+16360G>C) c.*220+6184C>G (n.*220+6184C>G) c.800C>G (p.Ser267Cys) c.827C>G (p.Ser276Cys) c.1682C>G (p.Ser561Cys) c.1496C>G (p.Ser499Cys) c.1415C>G (p.Ser472Cys) c.1121C>G (p.Ser374Cys) c.1502C>G (p.Ser501Cys) | dbSNP |
2 | g.48688040G= | CA1248600959 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1757C= (p.Ser586=) c.*69C= (n.*69C=) c.3441+16360G= (n.3441+16360G=) c.*501C= (n.*501C=) c.1676C= (p.Ser559=) c.276+16360G= (n.276+16360G=) c.*220+6184C= (n.*220+6184C=) c.800C= (p.Ser267=) c.827C= (p.Ser276=) c.1682C= (p.Ser561=) c.1496C= (p.Ser499=) c.1415C= (p.Ser472=) c.1121C= (p.Ser374=) c.1502C= (p.Ser501=) | |
2 | g.48688040G>T | CA346744714 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1757C>A (p.Ser586Tyr) c.*69C>A (n.*69C>A) c.3441+16360G>T (n.3441+16360G>T) c.*501C>A (n.*501C>A) c.1676C>A (p.Ser559Tyr) c.276+16360G>T (n.276+16360G>T) c.*220+6184C>A (n.*220+6184C>A) c.800C>A (p.Ser267Tyr) c.827C>A (p.Ser276Tyr) c.1682C>A (p.Ser561Tyr) c.1496C>A (p.Ser499Tyr) c.1415C>A (p.Ser472Tyr) c.1121C>A (p.Ser374Tyr) c.1502C>A (p.Ser501Tyr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688041A>C | CA346744717 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1756T>G (p.Ser586Ala) c.*68T>G (n.*68T>G) c.3441+16361A>C (n.3441+16361A>C) c.*500T>G (n.*500T>G) c.1675T>G (p.Ser559Ala) c.276+16361A>C (n.276+16361A>C) c.*220+6183T>G (n.*220+6183T>G) c.799T>G (p.Ser267Ala) c.826T>G (p.Ser276Ala) c.1681T>G (p.Ser561Ala) c.1495T>G (p.Ser499Ala) c.1414T>G (p.Ser472Ala) c.1120T>G (p.Ser374Ala) c.1501T>G (p.Ser501Ala) | |
2 | g.48688041A>G | CA346744721 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1756T>C (p.Ser586Pro) c.*68T>C (n.*68T>C) c.3441+16361A>G (n.3441+16361A>G) c.*500T>C (n.*500T>C) c.1675T>C (p.Ser559Pro) c.276+16361A>G (n.276+16361A>G) c.*220+6183T>C (n.*220+6183T>C) c.799T>C (p.Ser267Pro) c.826T>C (p.Ser276Pro) c.1681T>C (p.Ser561Pro) c.1495T>C (p.Ser499Pro) c.1414T>C (p.Ser472Pro) c.1120T>C (p.Ser374Pro) c.1501T>C (p.Ser501Pro) | |
2 | g.48688041A>T | CA346744727 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1756T>A (p.Ser586Thr) c.*68T>A (n.*68T>A) c.3441+16361A>T (n.3441+16361A>T) c.*500T>A (n.*500T>A) c.1675T>A (p.Ser559Thr) c.276+16361A>T (n.276+16361A>T) c.*220+6183T>A (n.*220+6183T>A) c.799T>A (p.Ser267Thr) c.826T>A (p.Ser276Thr) c.1681T>A (p.Ser561Thr) c.1495T>A (p.Ser499Thr) c.1414T>A (p.Ser472Thr) c.1120T>A (p.Ser374Thr) c.1501T>A (p.Ser501Thr) | |
2 | g.48688043_48688046del | CA2586969303 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1753_1756del (p.Ile585LeufsTer16) c.*65_*68del (n.*65_*68del) c.3441+16363_3441+16366del (n.3441+16363_3441+16366del) c.*497_*500del (n.*497_*500del) c.1672_1675del (p.Ile558LeufsTer16) c.276+16363_276+16366del (n.276+16363_276+16366del) c.*220+6180_*220+6183del (n.*220+6180_*220+6183del) c.796_799del (p.Ile266LeufsTer16) c.823_826del (p.Ile275LeufsTer16) c.1678_1681del (p.Ile560LeufsTer16) c.1492_1495del (p.Ile498LeufsTer16) c.1411_1414del (p.Ile471LeufsTer16) c.1117_1120del (p.Ile373LeufsTer16) c.1498_1501del (p.Ile500LeufsTer16) | gnomAD v4 |
2 | g.48688042G>A | CA426124914 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1755C>T (p.Ile585=) c.*67C>T (n.*67C>T) c.3441+16362G>A (n.3441+16362G>A) c.*499C>T (n.*499C>T) c.1674C>T (p.Ile558=) c.276+16362G>A (n.276+16362G>A) c.*220+6182C>T (n.*220+6182C>T) c.798C>T (p.Ile266=) c.825C>T (p.Ile275=) c.1680C>T (p.Ile560=) c.1494C>T (p.Ile498=) c.1413C>T (p.Ile471=) c.1119C>T (p.Ile373=) c.1500C>T (p.Ile500=) | |
2 | g.48688042G>C | CA46752775 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1755C>G (p.Ile585Met) c.*67C>G (n.*67C>G) c.3441+16362G>C (n.3441+16362G>C) c.*499C>G (n.*499C>G) c.1674C>G (p.Ile558Met) c.276+16362G>C (n.276+16362G>C) c.*220+6182C>G (n.*220+6182C>G) c.798C>G (p.Ile266Met) c.825C>G (p.Ile275Met) c.1680C>G (p.Ile560Met) c.1494C>G (p.Ile498Met) c.1413C>G (p.Ile471Met) c.1119C>G (p.Ile373Met) c.1500C>G (p.Ile500Met) | dbSNP gnomAD v4 |
2 | g.48688042G= | CA1248600960 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1755C= (p.Ile585=) c.*67C= (n.*67C=) c.3441+16362G= (n.3441+16362G=) c.*499C= (n.*499C=) c.1674C= (p.Ile558=) c.276+16362G= (n.276+16362G=) c.*220+6182C= (n.*220+6182C=) c.798C= (p.Ile266=) c.825C= (p.Ile275=) c.1680C= (p.Ile560=) c.1494C= (p.Ile498=) c.1413C= (p.Ile471=) c.1119C= (p.Ile373=) c.1500C= (p.Ile500=) | |
2 | g.48688042G>T | CA426124915 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1755C>A (p.Ile585=) c.*67C>A (n.*67C>A) c.3441+16362G>T (n.3441+16362G>T) c.*499C>A (n.*499C>A) c.1674C>A (p.Ile558=) c.276+16362G>T (n.276+16362G>T) c.*220+6182C>A (n.*220+6182C>A) c.798C>A (p.Ile266=) c.825C>A (p.Ile275=) c.1680C>A (p.Ile560=) c.1494C>A (p.Ile498=) c.1413C>A (p.Ile471=) c.1119C>A (p.Ile373=) c.1500C>A (p.Ile500=) | |
2 | g.48688043A= | CA1248600961 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1754T= (p.Ile585=) c.*66T= (n.*66T=) c.3441+16363A= (n.3441+16363A=) c.*498T= (n.*498T=) c.1673T= (p.Ile558=) c.276+16363A= (n.276+16363A=) c.*220+6181T= (n.*220+6181T=) c.797T= (p.Ile266=) c.824T= (p.Ile275=) c.1679T= (p.Ile560=) c.1493T= (p.Ile498=) c.1412T= (p.Ile471=) c.1118T= (p.Ile373=) c.1499T= (p.Ile500=) | |
2 | g.48688043A>C | CA346744732 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1754T>G (p.Ile585Ser) c.*66T>G (n.*66T>G) c.3441+16363A>C (n.3441+16363A>C) c.*498T>G (n.*498T>G) c.1673T>G (p.Ile558Ser) c.276+16363A>C (n.276+16363A>C) c.*220+6181T>G (n.*220+6181T>G) c.797T>G (p.Ile266Ser) c.824T>G (p.Ile275Ser) c.1679T>G (p.Ile560Ser) c.1493T>G (p.Ile498Ser) c.1412T>G (p.Ile471Ser) c.1118T>G (p.Ile373Ser) c.1499T>G (p.Ile500Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688043A>G | CA346744740 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1754T>C (p.Ile585Thr) c.*66T>C (n.*66T>C) c.3441+16363A>G (n.3441+16363A>G) c.*498T>C (n.*498T>C) c.1673T>C (p.Ile558Thr) c.276+16363A>G (n.276+16363A>G) c.*220+6181T>C (n.*220+6181T>C) c.797T>C (p.Ile266Thr) c.824T>C (p.Ile275Thr) c.1679T>C (p.Ile560Thr) c.1493T>C (p.Ile498Thr) c.1412T>C (p.Ile471Thr) c.1118T>C (p.Ile373Thr) c.1499T>C (p.Ile500Thr) | |
2 | g.48688043A>T | CA346744734 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1754T>A (p.Ile585Asn) c.*66T>A (n.*66T>A) c.3441+16363A>T (n.3441+16363A>T) c.*498T>A (n.*498T>A) c.1673T>A (p.Ile558Asn) c.276+16363A>T (n.276+16363A>T) c.*220+6181T>A (n.*220+6181T>A) c.797T>A (p.Ile266Asn) c.824T>A (p.Ile275Asn) c.1679T>A (p.Ile560Asn) c.1493T>A (p.Ile498Asn) c.1412T>A (p.Ile471Asn) c.1118T>A (p.Ile373Asn) c.1499T>A (p.Ile500Asn) | |
2 | g.48688044T>A | CA1652994 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1753A>T (p.Ile585Phe) c.*65A>T (n.*65A>T) c.3441+16364T>A (n.3441+16364T>A) c.*497A>T (n.*497A>T) c.1672A>T (p.Ile558Phe) c.276+16364T>A (n.276+16364T>A) c.*220+6180A>T (n.*220+6180A>T) c.796A>T (p.Ile266Phe) c.823A>T (p.Ile275Phe) c.1678A>T (p.Ile560Phe) c.1492A>T (p.Ile498Phe) c.1411A>T (p.Ile471Phe) c.1117A>T (p.Ile373Phe) c.1498A>T (p.Ile500Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688044T>C | CA346744743 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1753A>G (p.Ile585Val) c.*65A>G (n.*65A>G) c.3441+16364T>C (n.3441+16364T>C) c.*497A>G (n.*497A>G) c.1672A>G (p.Ile558Val) c.276+16364T>C (n.276+16364T>C) c.*220+6180A>G (n.*220+6180A>G) c.796A>G (p.Ile266Val) c.823A>G (p.Ile275Val) c.1678A>G (p.Ile560Val) c.1492A>G (p.Ile498Val) c.1411A>G (p.Ile471Val) c.1117A>G (p.Ile373Val) c.1498A>G (p.Ile500Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688044T>G | CA346744753 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1753A>C (p.Ile585Leu) c.*65A>C (n.*65A>C) c.3441+16364T>G (n.3441+16364T>G) c.*497A>C (n.*497A>C) c.1672A>C (p.Ile558Leu) c.276+16364T>G (n.276+16364T>G) c.*220+6180A>C (n.*220+6180A>C) c.796A>C (p.Ile266Leu) c.823A>C (p.Ile275Leu) c.1678A>C (p.Ile560Leu) c.1492A>C (p.Ile498Leu) c.1411A>C (p.Ile471Leu) c.1117A>C (p.Ile373Leu) c.1498A>C (p.Ile500Leu) | gnomAD v4 |
2 | g.48688044T= | CA1248600962 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1753A= (p.Ile585=) c.*65A= (n.*65A=) c.3441+16364T= (n.3441+16364T=) c.*497A= (n.*497A=) c.1672A= (p.Ile558=) c.276+16364T= (n.276+16364T=) c.*220+6180A= (n.*220+6180A=) c.796A= (p.Ile266=) c.823A= (p.Ile275=) c.1678A= (p.Ile560=) c.1492A= (p.Ile498=) c.1411A= (p.Ile471=) c.1117A= (p.Ile373=) c.1498A= (p.Ile500=) | |
2 | g.48688045A= | CA1248600963 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1752T= (p.Pro584=) c.*64T= (n.*64T=) c.3441+16365A= (n.3441+16365A=) c.*496T= (n.*496T=) c.1671T= (p.Pro557=) c.276+16365A= (n.276+16365A=) c.*220+6179T= (n.*220+6179T=) c.795T= (p.Pro265=) c.822T= (p.Pro274=) c.1677T= (p.Pro559=) c.1491T= (p.Pro497=) c.1410T= (p.Pro470=) c.1116T= (p.Pro372=) c.1497T= (p.Pro499=) | |
2 | g.48688045A>C | CA426124917 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1752T>G (p.Pro584=) c.*64T>G (n.*64T>G) c.3441+16365A>C (n.3441+16365A>C) c.*496T>G (n.*496T>G) c.1671T>G (p.Pro557=) c.276+16365A>C (n.276+16365A>C) c.*220+6179T>G (n.*220+6179T>G) c.795T>G (p.Pro265=) c.822T>G (p.Pro274=) c.1677T>G (p.Pro559=) c.1491T>G (p.Pro497=) c.1410T>G (p.Pro470=) c.1116T>G (p.Pro372=) c.1497T>G (p.Pro499=) | |
2 | g.48688045A>G | CA1652995 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1752T>C (p.Pro584=) c.*64T>C (n.*64T>C) c.3441+16365A>G (n.3441+16365A>G) c.*496T>C (n.*496T>C) c.1671T>C (p.Pro557=) c.276+16365A>G (n.276+16365A>G) c.*220+6179T>C (n.*220+6179T>C) c.795T>C (p.Pro265=) c.822T>C (p.Pro274=) c.1677T>C (p.Pro559=) c.1491T>C (p.Pro497=) c.1410T>C (p.Pro470=) c.1116T>C (p.Pro372=) c.1497T>C (p.Pro499=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688045A>T | CA426124916 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1752T>A (p.Pro584=) c.*64T>A (n.*64T>A) c.3441+16365A>T (n.3441+16365A>T) c.*496T>A (n.*496T>A) c.1671T>A (p.Pro557=) c.276+16365A>T (n.276+16365A>T) c.*220+6179T>A (n.*220+6179T>A) c.795T>A (p.Pro265=) c.822T>A (p.Pro274=) c.1677T>A (p.Pro559=) c.1491T>A (p.Pro497=) c.1410T>A (p.Pro470=) c.1116T>A (p.Pro372=) c.1497T>A (p.Pro499=) | |
2 | g.48688046G>A | CA346744756 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1751C>T (p.Pro584Leu) c.*63C>T (n.*63C>T) c.3441+16366G>A (n.3441+16366G>A) c.*495C>T (n.*495C>T) c.1670C>T (p.Pro557Leu) c.276+16366G>A (n.276+16366G>A) c.*220+6178C>T (n.*220+6178C>T) c.794C>T (p.Pro265Leu) c.821C>T (p.Pro274Leu) c.1676C>T (p.Pro559Leu) c.1490C>T (p.Pro497Leu) c.1409C>T (p.Pro470Leu) c.1115C>T (p.Pro372Leu) c.1496C>T (p.Pro499Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688046G>C | CA346744758 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1751C>G (p.Pro584Arg) c.*63C>G (n.*63C>G) c.3441+16366G>C (n.3441+16366G>C) c.*495C>G (n.*495C>G) c.1670C>G (p.Pro557Arg) c.276+16366G>C (n.276+16366G>C) c.*220+6178C>G (n.*220+6178C>G) c.794C>G (p.Pro265Arg) c.821C>G (p.Pro274Arg) c.1676C>G (p.Pro559Arg) c.1490C>G (p.Pro497Arg) c.1409C>G (p.Pro470Arg) c.1115C>G (p.Pro372Arg) c.1496C>G (p.Pro499Arg) | |
2 | g.48688046G= | CA1248600964 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1751C= (p.Pro584=) c.*63C= (n.*63C=) c.3441+16366G= (n.3441+16366G=) c.*495C= (n.*495C=) c.1670C= (p.Pro557=) c.276+16366G= (n.276+16366G=) c.*220+6178C= (n.*220+6178C=) c.794C= (p.Pro265=) c.821C= (p.Pro274=) c.1676C= (p.Pro559=) c.1490C= (p.Pro497=) c.1409C= (p.Pro470=) c.1115C= (p.Pro372=) c.1496C= (p.Pro499=) | |
2 | g.48688046G>T | CA346744757 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1751C>A (p.Pro584His) c.*63C>A (n.*63C>A) c.3441+16366G>T (n.3441+16366G>T) c.*495C>A (n.*495C>A) c.1670C>A (p.Pro557His) c.276+16366G>T (n.276+16366G>T) c.*220+6178C>A (n.*220+6178C>A) c.794C>A (p.Pro265His) c.821C>A (p.Pro274His) c.1676C>A (p.Pro559His) c.1490C>A (p.Pro497His) c.1409C>A (p.Pro470His) c.1115C>A (p.Pro372His) c.1496C>A (p.Pro499His) | |
2 | g.48688047G>A | CA346744761 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1750C>T (p.Pro584Ser) c.*62C>T (n.*62C>T) c.3441+16367G>A (n.3441+16367G>A) c.*494C>T (n.*494C>T) c.1669C>T (p.Pro557Ser) c.276+16367G>A (n.276+16367G>A) c.*220+6177C>T (n.*220+6177C>T) c.793C>T (p.Pro265Ser) c.820C>T (p.Pro274Ser) c.1675C>T (p.Pro559Ser) c.1489C>T (p.Pro497Ser) c.1408C>T (p.Pro470Ser) c.1114C>T (p.Pro372Ser) c.1495C>T (p.Pro499Ser) | |
2 | g.48688047G>C | CA346744762 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1750C>G (p.Pro584Ala) c.*62C>G (n.*62C>G) c.3441+16367G>C (n.3441+16367G>C) c.*494C>G (n.*494C>G) c.1669C>G (p.Pro557Ala) c.276+16367G>C (n.276+16367G>C) c.*220+6177C>G (n.*220+6177C>G) c.793C>G (p.Pro265Ala) c.820C>G (p.Pro274Ala) c.1675C>G (p.Pro559Ala) c.1489C>G (p.Pro497Ala) c.1408C>G (p.Pro470Ala) c.1114C>G (p.Pro372Ala) c.1495C>G (p.Pro499Ala) | |
2 | g.48688047G>T | CA346744764 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1750C>A (p.Pro584Thr) c.*62C>A (n.*62C>A) c.3441+16367G>T (n.3441+16367G>T) c.*494C>A (n.*494C>A) c.1669C>A (p.Pro557Thr) c.276+16367G>T (n.276+16367G>T) c.*220+6177C>A (n.*220+6177C>A) c.793C>A (p.Pro265Thr) c.820C>A (p.Pro274Thr) c.1675C>A (p.Pro559Thr) c.1489C>A (p.Pro497Thr) c.1408C>A (p.Pro470Thr) c.1114C>A (p.Pro372Thr) c.1495C>A (p.Pro499Thr) | |
2 | g.48688048T>A | CA426124918 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1749A>T (p.Ala583=) c.*61A>T (n.*61A>T) c.3441+16368T>A (n.3441+16368T>A) c.*493A>T (n.*493A>T) c.1668A>T (p.Ala556=) c.276+16368T>A (n.276+16368T>A) c.*220+6176A>T (n.*220+6176A>T) c.792A>T (p.Ala264=) c.819A>T (p.Ala273=) c.1674A>T (p.Ala558=) c.1488A>T (p.Ala496=) c.1407A>T (p.Ala469=) c.1113A>T (p.Ala371=) c.1494A>T (p.Ala498=) | |
2 | g.48688048T>C | CA426124919 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1749A>G (p.Ala583=) c.*61A>G (n.*61A>G) c.3441+16368T>C (n.3441+16368T>C) c.*493A>G (n.*493A>G) c.1668A>G (p.Ala556=) c.276+16368T>C (n.276+16368T>C) c.*220+6176A>G (n.*220+6176A>G) c.792A>G (p.Ala264=) c.819A>G (p.Ala273=) c.1674A>G (p.Ala558=) c.1488A>G (p.Ala496=) c.1407A>G (p.Ala469=) c.1113A>G (p.Ala371=) c.1494A>G (p.Ala498=) | gnomAD v4 |
2 | g.48688048T>G | CA426124920 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1749A>C (p.Ala583=) c.*61A>C (n.*61A>C) c.3441+16368T>G (n.3441+16368T>G) c.*493A>C (n.*493A>C) c.1668A>C (p.Ala556=) c.276+16368T>G (n.276+16368T>G) c.*220+6176A>C (n.*220+6176A>C) c.792A>C (p.Ala264=) c.819A>C (p.Ala273=) c.1674A>C (p.Ala558=) c.1488A>C (p.Ala496=) c.1407A>C (p.Ala469=) c.1113A>C (p.Ala371=) c.1494A>C (p.Ala498=) | |
2 | g.48688049G>A | CA346744766 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1748C>T (p.Ala583Val) c.*60C>T (n.*60C>T) c.3441+16369G>A (n.3441+16369G>A) c.*492C>T (n.*492C>T) c.1667C>T (p.Ala556Val) c.276+16369G>A (n.276+16369G>A) c.*220+6175C>T (n.*220+6175C>T) c.791C>T (p.Ala264Val) c.818C>T (p.Ala273Val) c.1673C>T (p.Ala558Val) c.1487C>T (p.Ala496Val) c.1406C>T (p.Ala469Val) c.1112C>T (p.Ala371Val) c.1493C>T (p.Ala498Val) | dbSNP |
2 | g.48688049G>C | CA346744769 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1748C>G (p.Ala583Gly) c.*60C>G (n.*60C>G) c.3441+16369G>C (n.3441+16369G>C) c.*492C>G (n.*492C>G) c.1667C>G (p.Ala556Gly) c.276+16369G>C (n.276+16369G>C) c.*220+6175C>G (n.*220+6175C>G) c.791C>G (p.Ala264Gly) c.818C>G (p.Ala273Gly) c.1673C>G (p.Ala558Gly) c.1487C>G (p.Ala496Gly) c.1406C>G (p.Ala469Gly) c.1112C>G (p.Ala371Gly) c.1493C>G (p.Ala498Gly) | |
2 | g.48688049G= | CA1248600965 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1748C= (p.Ala583=) c.*60C= (n.*60C=) c.3441+16369G= (n.3441+16369G=) c.*492C= (n.*492C=) c.1667C= (p.Ala556=) c.276+16369G= (n.276+16369G=) c.*220+6175C= (n.*220+6175C=) c.791C= (p.Ala264=) c.818C= (p.Ala273=) c.1673C= (p.Ala558=) c.1487C= (p.Ala496=) c.1406C= (p.Ala469=) c.1112C= (p.Ala371=) c.1493C= (p.Ala498=) | |
2 | g.48688049G>T | CA346744775 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1748C>A (p.Ala583Glu) c.*60C>A (n.*60C>A) c.3441+16369G>T (n.3441+16369G>T) c.*492C>A (n.*492C>A) c.1667C>A (p.Ala556Glu) c.276+16369G>T (n.276+16369G>T) c.*220+6175C>A (n.*220+6175C>A) c.791C>A (p.Ala264Glu) c.818C>A (p.Ala273Glu) c.1673C>A (p.Ala558Glu) c.1487C>A (p.Ala496Glu) c.1406C>A (p.Ala469Glu) c.1112C>A (p.Ala371Glu) c.1493C>A (p.Ala498Glu) | dbSNP gnomAD v4 |
2 | g.48688050C>A | CA346744778 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1747G>T (p.Ala583Ser) c.*59G>T (n.*59G>T) c.3441+16370C>A (n.3441+16370C>A) c.*491G>T (n.*491G>T) c.1666G>T (p.Ala556Ser) c.276+16370C>A (n.276+16370C>A) c.*220+6174G>T (n.*220+6174G>T) c.790G>T (p.Ala264Ser) c.817G>T (p.Ala273Ser) c.1672G>T (p.Ala558Ser) c.1486G>T (p.Ala496Ser) c.1405G>T (p.Ala469Ser) c.1111G>T (p.Ala371Ser) c.1492G>T (p.Ala498Ser) | |
2 | g.48688050C= | CA1248600966 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1747G= (p.Ala583=) c.*59G= (n.*59G=) c.3441+16370C= (n.3441+16370C=) c.*491G= (n.*491G=) c.1666G= (p.Ala556=) c.276+16370C= (n.276+16370C=) c.*220+6174G= (n.*220+6174G=) c.790G= (p.Ala264=) c.817G= (p.Ala273=) c.1672G= (p.Ala558=) c.1486G= (p.Ala496=) c.1405G= (p.Ala469=) c.1111G= (p.Ala371=) c.1492G= (p.Ala498=) | |
2 | g.48688050C>G | CA346744779 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1747G>C (p.Ala583Pro) c.*59G>C (n.*59G>C) c.3441+16370C>G (n.3441+16370C>G) c.*491G>C (n.*491G>C) c.1666G>C (p.Ala556Pro) c.276+16370C>G (n.276+16370C>G) c.*220+6174G>C (n.*220+6174G>C) c.790G>C (p.Ala264Pro) c.817G>C (p.Ala273Pro) c.1672G>C (p.Ala558Pro) c.1486G>C (p.Ala496Pro) c.1405G>C (p.Ala469Pro) c.1111G>C (p.Ala371Pro) c.1492G>C (p.Ala498Pro) | |
2 | g.48688050C>T | CA346744782 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1747G>A (p.Ala583Thr) c.*59G>A (n.*59G>A) c.3441+16370C>T (n.3441+16370C>T) c.*491G>A (n.*491G>A) c.1666G>A (p.Ala556Thr) c.276+16370C>T (n.276+16370C>T) c.*220+6174G>A (n.*220+6174G>A) c.790G>A (p.Ala264Thr) c.817G>A (p.Ala273Thr) c.1672G>A (p.Ala558Thr) c.1486G>A (p.Ala496Thr) c.1405G>A (p.Ala469Thr) c.1111G>A (p.Ala371Thr) c.1492G>A (p.Ala498Thr) | dbSNP gnomAD v4 COSMIC |
2 | g.48688051C>A | CA346744786 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1746G>T (p.Met582Ile) c.*58G>T (n.*58G>T) c.3441+16371C>A (n.3441+16371C>A) c.*490G>T (n.*490G>T) c.1665G>T (p.Met555Ile) c.276+16371C>A (n.276+16371C>A) c.*220+6173G>T (n.*220+6173G>T) c.789G>T (p.Met263Ile) c.816G>T (p.Met272Ile) c.1671G>T (p.Met557Ile) c.1485G>T (p.Met495Ile) c.1404G>T (p.Met468Ile) c.1110G>T (p.Met370Ile) c.1491G>T (p.Met497Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688051C= | CA1248600967 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1746G= (p.Met582=) c.*58G= (n.*58G=) c.3441+16371C= (n.3441+16371C=) c.*490G= (n.*490G=) c.1665G= (p.Met555=) c.276+16371C= (n.276+16371C=) c.*220+6173G= (n.*220+6173G=) c.789G= (p.Met263=) c.816G= (p.Met272=) c.1671G= (p.Met557=) c.1485G= (p.Met495=) c.1404G= (p.Met468=) c.1110G= (p.Met370=) c.1491G= (p.Met497=) | |
2 | g.48688051C>G | CA346744789 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1746G>C (p.Met582Ile) c.*58G>C (n.*58G>C) c.3441+16371C>G (n.3441+16371C>G) c.*490G>C (n.*490G>C) c.1665G>C (p.Met555Ile) c.276+16371C>G (n.276+16371C>G) c.*220+6173G>C (n.*220+6173G>C) c.789G>C (p.Met263Ile) c.816G>C (p.Met272Ile) c.1671G>C (p.Met557Ile) c.1485G>C (p.Met495Ile) c.1404G>C (p.Met468Ile) c.1110G>C (p.Met370Ile) c.1491G>C (p.Met497Ile) | |
2 | g.48688051C>T | CA346744790 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1746G>A (p.Met582Ile) c.*58G>A (n.*58G>A) c.3441+16371C>T (n.3441+16371C>T) c.*490G>A (n.*490G>A) c.1665G>A (p.Met555Ile) c.276+16371C>T (n.276+16371C>T) c.*220+6173G>A (n.*220+6173G>A) c.789G>A (p.Met263Ile) c.816G>A (p.Met272Ile) c.1671G>A (p.Met557Ile) c.1485G>A (p.Met495Ile) c.1404G>A (p.Met468Ile) c.1110G>A (p.Met370Ile) c.1491G>A (p.Met497Ile) | |
2 | g.48688052A= | CA1248600968 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1745T= (p.Met582=) c.*57T= (n.*57T=) c.3441+16372A= (n.3441+16372A=) c.*489T= (n.*489T=) c.1664T= (p.Met555=) c.276+16372A= (n.276+16372A=) c.*220+6172T= (n.*220+6172T=) c.788T= (p.Met263=) c.815T= (p.Met272=) c.1670T= (p.Met557=) c.1484T= (p.Met495=) c.1403T= (p.Met468=) c.1109T= (p.Met370=) c.1490T= (p.Met497=) | |
2 | g.48688052A>C | CA346744793 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1745T>G (p.Met582Arg) c.*57T>G (n.*57T>G) c.3441+16372A>C (n.3441+16372A>C) c.*489T>G (n.*489T>G) c.1664T>G (p.Met555Arg) c.276+16372A>C (n.276+16372A>C) c.*220+6172T>G (n.*220+6172T>G) c.788T>G (p.Met263Arg) c.815T>G (p.Met272Arg) c.1670T>G (p.Met557Arg) c.1484T>G (p.Met495Arg) c.1403T>G (p.Met468Arg) c.1109T>G (p.Met370Arg) c.1490T>G (p.Met497Arg) | |
2 | g.48688052A>G | CA346744792 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1745T>C (p.Met582Thr) c.*57T>C (n.*57T>C) c.3441+16372A>G (n.3441+16372A>G) c.*489T>C (n.*489T>C) c.1664T>C (p.Met555Thr) c.276+16372A>G (n.276+16372A>G) c.*220+6172T>C (n.*220+6172T>C) c.788T>C (p.Met263Thr) c.815T>C (p.Met272Thr) c.1670T>C (p.Met557Thr) c.1484T>C (p.Met495Thr) c.1403T>C (p.Met468Thr) c.1109T>C (p.Met370Thr) c.1490T>C (p.Met497Thr) | dbSNP COSMIC |
2 | g.48688052A>T | CA346744791 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1745T>A (p.Met582Lys) c.*57T>A (n.*57T>A) c.3441+16372A>T (n.3441+16372A>T) c.*489T>A (n.*489T>A) c.1664T>A (p.Met555Lys) c.276+16372A>T (n.276+16372A>T) c.*220+6172T>A (n.*220+6172T>A) c.788T>A (p.Met263Lys) c.815T>A (p.Met272Lys) c.1670T>A (p.Met557Lys) c.1484T>A (p.Met495Lys) c.1403T>A (p.Met468Lys) c.1109T>A (p.Met370Lys) c.1490T>A (p.Met497Lys) | |
2 | g.48688053T>A | CA346744794 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1744A>T (p.Met582Leu) c.*56A>T (n.*56A>T) c.3441+16373T>A (n.3441+16373T>A) c.*488A>T (n.*488A>T) c.1663A>T (p.Met555Leu) c.276+16373T>A (n.276+16373T>A) c.*220+6171A>T (n.*220+6171A>T) c.787A>T (p.Met263Leu) c.814A>T (p.Met272Leu) c.1669A>T (p.Met557Leu) c.1483A>T (p.Met495Leu) c.1402A>T (p.Met468Leu) c.1108A>T (p.Met370Leu) c.1489A>T (p.Met497Leu) | |
2 | g.48688053T>C | CA346744805 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1744A>G (p.Met582Val) c.*56A>G (n.*56A>G) c.3441+16373T>C (n.3441+16373T>C) c.*488A>G (n.*488A>G) c.1663A>G (p.Met555Val) c.276+16373T>C (n.276+16373T>C) c.*220+6171A>G (n.*220+6171A>G) c.787A>G (p.Met263Val) c.814A>G (p.Met272Val) c.1669A>G (p.Met557Val) c.1483A>G (p.Met495Val) c.1402A>G (p.Met468Val) c.1108A>G (p.Met370Val) c.1489A>G (p.Met497Val) | gnomAD v4 |
2 | g.48688053T>G | CA346744798 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1744A>C (p.Met582Leu) c.*56A>C (n.*56A>C) c.3441+16373T>G (n.3441+16373T>G) c.*488A>C (n.*488A>C) c.1663A>C (p.Met555Leu) c.276+16373T>G (n.276+16373T>G) c.*220+6171A>C (n.*220+6171A>C) c.787A>C (p.Met263Leu) c.814A>C (p.Met272Leu) c.1669A>C (p.Met557Leu) c.1483A>C (p.Met495Leu) c.1402A>C (p.Met468Leu) c.1108A>C (p.Met370Leu) c.1489A>C (p.Met497Leu) | |
2 | g.48688054G>A | CA426124921 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1743C>T (p.Cys581=) c.*55C>T (n.*55C>T) c.3441+16374G>A (n.3441+16374G>A) c.*487C>T (n.*487C>T) c.1662C>T (p.Cys554=) c.276+16374G>A (n.276+16374G>A) c.*220+6170C>T (n.*220+6170C>T) c.786C>T (p.Cys262=) c.813C>T (p.Cys271=) c.1668C>T (p.Cys556=) c.1482C>T (p.Cys494=) c.1401C>T (p.Cys467=) c.1107C>T (p.Cys369=) c.1488C>T (p.Cys496=) | |
2 | g.48688054G>C | CA346744809 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1743C>G (p.Cys581Trp) c.*55C>G (n.*55C>G) c.3441+16374G>C (n.3441+16374G>C) c.*487C>G (n.*487C>G) c.1662C>G (p.Cys554Trp) c.276+16374G>C (n.276+16374G>C) c.*220+6170C>G (n.*220+6170C>G) c.786C>G (p.Cys262Trp) c.813C>G (p.Cys271Trp) c.1668C>G (p.Cys556Trp) c.1482C>G (p.Cys494Trp) c.1401C>G (p.Cys467Trp) c.1107C>G (p.Cys369Trp) c.1488C>G (p.Cys496Trp) | |
2 | g.48688054G>T | CA346744810 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1743C>A (p.Cys581Ter) c.*55C>A (n.*55C>A) c.3441+16374G>T (n.3441+16374G>T) c.*487C>A (n.*487C>A) c.1662C>A (p.Cys554Ter) c.276+16374G>T (n.276+16374G>T) c.*220+6170C>A (n.*220+6170C>A) c.786C>A (p.Cys262Ter) c.813C>A (p.Cys271Ter) c.1668C>A (p.Cys556Ter) c.1482C>A (p.Cys494Ter) c.1401C>A (p.Cys467Ter) c.1107C>A (p.Cys369Ter) c.1488C>A (p.Cys496Ter) | |
2 | g.48688055C>A | CA346744814 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1742G>T (p.Cys581Phe) c.*54G>T (n.*54G>T) c.3441+16375C>A (n.3441+16375C>A) c.*486G>T (n.*486G>T) c.1661G>T (p.Cys554Phe) c.276+16375C>A (n.276+16375C>A) c.*220+6169G>T (n.*220+6169G>T) c.785G>T (p.Cys262Phe) c.812G>T (p.Cys271Phe) c.1667G>T (p.Cys556Phe) c.1481G>T (p.Cys494Phe) c.1400G>T (p.Cys467Phe) c.1106G>T (p.Cys369Phe) c.1487G>T (p.Cys496Phe) | |
2 | g.48688055C>G | CA346744829 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1742G>C (p.Cys581Ser) c.*54G>C (n.*54G>C) c.3441+16375C>G (n.3441+16375C>G) c.*486G>C (n.*486G>C) c.1661G>C (p.Cys554Ser) c.276+16375C>G (n.276+16375C>G) c.*220+6169G>C (n.*220+6169G>C) c.785G>C (p.Cys262Ser) c.812G>C (p.Cys271Ser) c.1667G>C (p.Cys556Ser) c.1481G>C (p.Cys494Ser) c.1400G>C (p.Cys467Ser) c.1106G>C (p.Cys369Ser) c.1487G>C (p.Cys496Ser) | gnomAD v4 |
2 | g.48688055C>T | CA346744833 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1742G>A (p.Cys581Tyr) c.*54G>A (n.*54G>A) c.3441+16375C>T (n.3441+16375C>T) c.*486G>A (n.*486G>A) c.1661G>A (p.Cys554Tyr) c.276+16375C>T (n.276+16375C>T) c.*220+6169G>A (n.*220+6169G>A) c.785G>A (p.Cys262Tyr) c.812G>A (p.Cys271Tyr) c.1667G>A (p.Cys556Tyr) c.1481G>A (p.Cys494Tyr) c.1400G>A (p.Cys467Tyr) c.1106G>A (p.Cys369Tyr) c.1487G>A (p.Cys496Tyr) | |
2 | g.48688056A>C | CA346744835 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1741T>G (p.Cys581Gly) c.*53T>G (n.*53T>G) c.3441+16376A>C (n.3441+16376A>C) c.*485T>G (n.*485T>G) c.1660T>G (p.Cys554Gly) c.276+16376A>C (n.276+16376A>C) c.*220+6168T>G (n.*220+6168T>G) c.784T>G (p.Cys262Gly) c.811T>G (p.Cys271Gly) c.1666T>G (p.Cys556Gly) c.1480T>G (p.Cys494Gly) c.1399T>G (p.Cys467Gly) c.1105T>G (p.Cys369Gly) c.1486T>G (p.Cys496Gly) | |
2 | g.48688056A>G | CA346744840 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1741T>C (p.Cys581Arg) c.*53T>C (n.*53T>C) c.3441+16376A>G (n.3441+16376A>G) c.*485T>C (n.*485T>C) c.1660T>C (p.Cys554Arg) c.276+16376A>G (n.276+16376A>G) c.*220+6168T>C (n.*220+6168T>C) c.784T>C (p.Cys262Arg) c.811T>C (p.Cys271Arg) c.1666T>C (p.Cys556Arg) c.1480T>C (p.Cys494Arg) c.1399T>C (p.Cys467Arg) c.1105T>C (p.Cys369Arg) c.1486T>C (p.Cys496Arg) | |
2 | g.48688056A>T | CA346744842 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1741T>A (p.Cys581Ser) c.*53T>A (n.*53T>A) c.3441+16376A>T (n.3441+16376A>T) c.*485T>A (n.*485T>A) c.1660T>A (p.Cys554Ser) c.276+16376A>T (n.276+16376A>T) c.*220+6168T>A (n.*220+6168T>A) c.784T>A (p.Cys262Ser) c.811T>A (p.Cys271Ser) c.1666T>A (p.Cys556Ser) c.1480T>A (p.Cys494Ser) c.1399T>A (p.Cys467Ser) c.1105T>A (p.Cys369Ser) c.1486T>A (p.Cys496Ser) | |
2 | g.48688057G>A | CA426124922 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1740C>T (p.Thr580=) c.*52C>T (n.*52C>T) c.3441+16377G>A (n.3441+16377G>A) c.*484C>T (n.*484C>T) c.1659C>T (p.Thr553=) c.276+16377G>A (n.276+16377G>A) c.*220+6167C>T (n.*220+6167C>T) c.783C>T (p.Thr261=) c.810C>T (p.Thr270=) c.1665C>T (p.Thr555=) c.1479C>T (p.Thr493=) c.1398C>T (p.Thr466=) c.1104C>T (p.Thr368=) c.1485C>T (p.Thr495=) | |
2 | g.48688057G>C | CA426124923 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1740C>G (p.Thr580=) c.*52C>G (n.*52C>G) c.3441+16377G>C (n.3441+16377G>C) c.*484C>G (n.*484C>G) c.1659C>G (p.Thr553=) c.276+16377G>C (n.276+16377G>C) c.*220+6167C>G (n.*220+6167C>G) c.783C>G (p.Thr261=) c.810C>G (p.Thr270=) c.1665C>G (p.Thr555=) c.1479C>G (p.Thr493=) c.1398C>G (p.Thr466=) c.1104C>G (p.Thr368=) c.1485C>G (p.Thr495=) | |
2 | g.48688057G>T | CA426124924 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1740C>A (p.Thr580=) c.*52C>A (n.*52C>A) c.3441+16377G>T (n.3441+16377G>T) c.*484C>A (n.*484C>A) c.1659C>A (p.Thr553=) c.276+16377G>T (n.276+16377G>T) c.*220+6167C>A (n.*220+6167C>A) c.783C>A (p.Thr261=) c.810C>A (p.Thr270=) c.1665C>A (p.Thr555=) c.1479C>A (p.Thr493=) c.1398C>A (p.Thr466=) c.1104C>A (p.Thr368=) c.1485C>A (p.Thr495=) | |
2 | g.48688058G>A | CA1652996 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1739C>T (p.Thr580Ile) c.*51C>T (n.*51C>T) c.3441+16378G>A (n.3441+16378G>A) c.*483C>T (n.*483C>T) c.1658C>T (p.Thr553Ile) c.276+16378G>A (n.276+16378G>A) c.*220+6166C>T (n.*220+6166C>T) c.782C>T (p.Thr261Ile) c.809C>T (p.Thr270Ile) c.1664C>T (p.Thr555Ile) c.1478C>T (p.Thr493Ile) c.1397C>T (p.Thr466Ile) c.1103C>T (p.Thr368Ile) c.1484C>T (p.Thr495Ile) | dbSNP ExAC gnomAD v2 |
2 | g.48688058G>C | CA346744852 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1739C>G (p.Thr580Ser) c.*51C>G (n.*51C>G) c.3441+16378G>C (n.3441+16378G>C) c.*483C>G (n.*483C>G) c.1658C>G (p.Thr553Ser) c.276+16378G>C (n.276+16378G>C) c.*220+6166C>G (n.*220+6166C>G) c.782C>G (p.Thr261Ser) c.809C>G (p.Thr270Ser) c.1664C>G (p.Thr555Ser) c.1478C>G (p.Thr493Ser) c.1397C>G (p.Thr466Ser) c.1103C>G (p.Thr368Ser) c.1484C>G (p.Thr495Ser) | |
2 | g.48688058G= | CA1248600969 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1739C= (p.Thr580=) c.*51C= (n.*51C=) c.3441+16378G= (n.3441+16378G=) c.*483C= (n.*483C=) c.1658C= (p.Thr553=) c.276+16378G= (n.276+16378G=) c.*220+6166C= (n.*220+6166C=) c.782C= (p.Thr261=) c.809C= (p.Thr270=) c.1664C= (p.Thr555=) c.1478C= (p.Thr493=) c.1397C= (p.Thr466=) c.1103C= (p.Thr368=) c.1484C= (p.Thr495=) | |
2 | g.48688058G>T | CA346744856 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1739C>A (p.Thr580Asn) c.*51C>A (n.*51C>A) c.3441+16378G>T (n.3441+16378G>T) c.*483C>A (n.*483C>A) c.1658C>A (p.Thr553Asn) c.276+16378G>T (n.276+16378G>T) c.*220+6166C>A (n.*220+6166C>A) c.782C>A (p.Thr261Asn) c.809C>A (p.Thr270Asn) c.1664C>A (p.Thr555Asn) c.1478C>A (p.Thr493Asn) c.1397C>A (p.Thr466Asn) c.1103C>A (p.Thr368Asn) c.1484C>A (p.Thr495Asn) | dbSNP |
2 | g.48688059T>A | CA346744859 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1738A>T (p.Thr580Ser) c.*50A>T (n.*50A>T) c.3441+16379T>A (n.3441+16379T>A) c.*482A>T (n.*482A>T) c.1657A>T (p.Thr553Ser) c.276+16379T>A (n.276+16379T>A) c.*220+6165A>T (n.*220+6165A>T) c.781A>T (p.Thr261Ser) c.808A>T (p.Thr270Ser) c.1663A>T (p.Thr555Ser) c.1477A>T (p.Thr493Ser) c.1396A>T (p.Thr466Ser) c.1102A>T (p.Thr368Ser) c.1483A>T (p.Thr495Ser) | |
2 | g.48688059T>C | CA346744861 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1738A>G (p.Thr580Ala) c.*50A>G (n.*50A>G) c.3441+16379T>C (n.3441+16379T>C) c.*482A>G (n.*482A>G) c.1657A>G (p.Thr553Ala) c.276+16379T>C (n.276+16379T>C) c.*220+6165A>G (n.*220+6165A>G) c.781A>G (p.Thr261Ala) c.808A>G (p.Thr270Ala) c.1663A>G (p.Thr555Ala) c.1477A>G (p.Thr493Ala) c.1396A>G (p.Thr466Ala) c.1102A>G (p.Thr368Ala) c.1483A>G (p.Thr495Ala) | |
2 | g.48688059T>G | CA346744872 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1738A>C (p.Thr580Pro) c.*50A>C (n.*50A>C) c.3441+16379T>G (n.3441+16379T>G) c.*482A>C (n.*482A>C) c.1657A>C (p.Thr553Pro) c.276+16379T>G (n.276+16379T>G) c.*220+6165A>C (n.*220+6165A>C) c.781A>C (p.Thr261Pro) c.808A>C (p.Thr270Pro) c.1663A>C (p.Thr555Pro) c.1477A>C (p.Thr493Pro) c.1396A>C (p.Thr466Pro) c.1102A>C (p.Thr368Pro) c.1483A>C (p.Thr495Pro) | |
2 | g.48688060G>A | CA426124925 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1737C>T (p.Phe579=) c.*49C>T (n.*49C>T) c.3441+16380G>A (n.3441+16380G>A) c.*481C>T (n.*481C>T) c.1656C>T (p.Phe552=) c.276+16380G>A (n.276+16380G>A) c.*220+6164C>T (n.*220+6164C>T) c.780C>T (p.Phe260=) c.807C>T (p.Phe269=) c.1662C>T (p.Phe554=) c.1476C>T (p.Phe492=) c.1395C>T (p.Phe465=) c.1101C>T (p.Phe367=) c.1482C>T (p.Phe494=) | |
2 | g.48688060G>C | CA346744876 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1737C>G (p.Phe579Leu) c.*49C>G (n.*49C>G) c.3441+16380G>C (n.3441+16380G>C) c.*481C>G (n.*481C>G) c.1656C>G (p.Phe552Leu) c.276+16380G>C (n.276+16380G>C) c.*220+6164C>G (n.*220+6164C>G) c.780C>G (p.Phe260Leu) c.807C>G (p.Phe269Leu) c.1662C>G (p.Phe554Leu) c.1476C>G (p.Phe492Leu) c.1395C>G (p.Phe465Leu) c.1101C>G (p.Phe367Leu) c.1482C>G (p.Phe494Leu) | |
2 | g.48688060G>T | CA346744880 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1737C>A (p.Phe579Leu) c.*49C>A (n.*49C>A) c.3441+16380G>T (n.3441+16380G>T) c.*481C>A (n.*481C>A) c.1656C>A (p.Phe552Leu) c.276+16380G>T (n.276+16380G>T) c.*220+6164C>A (n.*220+6164C>A) c.780C>A (p.Phe260Leu) c.807C>A (p.Phe269Leu) c.1662C>A (p.Phe554Leu) c.1476C>A (p.Phe492Leu) c.1395C>A (p.Phe465Leu) c.1101C>A (p.Phe367Leu) c.1482C>A (p.Phe494Leu) | |
2 | g.48688061A>C | CA346744883 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1736T>G (p.Phe579Cys) c.*48T>G (n.*48T>G) c.3441+16381A>C (n.3441+16381A>C) c.*480T>G (n.*480T>G) c.1655T>G (p.Phe552Cys) c.276+16381A>C (n.276+16381A>C) c.*220+6163T>G (n.*220+6163T>G) c.779T>G (p.Phe260Cys) c.806T>G (p.Phe269Cys) c.1661T>G (p.Phe554Cys) c.1475T>G (p.Phe492Cys) c.1394T>G (p.Phe465Cys) c.1100T>G (p.Phe367Cys) c.1481T>G (p.Phe494Cys) | |
2 | g.48688061A>G | CA346744887 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1736T>C (p.Phe579Ser) c.*48T>C (n.*48T>C) c.3441+16381A>G (n.3441+16381A>G) c.*480T>C (n.*480T>C) c.1655T>C (p.Phe552Ser) c.276+16381A>G (n.276+16381A>G) c.*220+6163T>C (n.*220+6163T>C) c.779T>C (p.Phe260Ser) c.806T>C (p.Phe269Ser) c.1661T>C (p.Phe554Ser) c.1475T>C (p.Phe492Ser) c.1394T>C (p.Phe465Ser) c.1100T>C (p.Phe367Ser) c.1481T>C (p.Phe494Ser) | |
2 | g.48688061A>T | CA346744889 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1736T>A (p.Phe579Tyr) c.*48T>A (n.*48T>A) c.3441+16381A>T (n.3441+16381A>T) c.*480T>A (n.*480T>A) c.1655T>A (p.Phe552Tyr) c.276+16381A>T (n.276+16381A>T) c.*220+6163T>A (n.*220+6163T>A) c.779T>A (p.Phe260Tyr) c.806T>A (p.Phe269Tyr) c.1661T>A (p.Phe554Tyr) c.1475T>A (p.Phe492Tyr) c.1394T>A (p.Phe465Tyr) c.1100T>A (p.Phe367Tyr) c.1481T>A (p.Phe494Tyr) | |
2 | g.48688062A>C | CA346744892 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1735T>G (p.Phe579Val) c.*47T>G (n.*47T>G) c.3441+16382A>C (n.3441+16382A>C) c.*479T>G (n.*479T>G) c.1654T>G (p.Phe552Val) c.276+16382A>C (n.276+16382A>C) c.*220+6162T>G (n.*220+6162T>G) c.778T>G (p.Phe260Val) c.805T>G (p.Phe269Val) c.1660T>G (p.Phe554Val) c.1474T>G (p.Phe492Val) c.1393T>G (p.Phe465Val) c.1099T>G (p.Phe367Val) c.1480T>G (p.Phe494Val) | gnomAD v4 |
2 | g.48688062A>G | CA346744894 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1735T>C (p.Phe579Leu) c.*47T>C (n.*47T>C) c.3441+16382A>G (n.3441+16382A>G) c.*479T>C (n.*479T>C) c.1654T>C (p.Phe552Leu) c.276+16382A>G (n.276+16382A>G) c.*220+6162T>C (n.*220+6162T>C) c.778T>C (p.Phe260Leu) c.805T>C (p.Phe269Leu) c.1660T>C (p.Phe554Leu) c.1474T>C (p.Phe492Leu) c.1393T>C (p.Phe465Leu) c.1099T>C (p.Phe367Leu) c.1480T>C (p.Phe494Leu) | |
2 | g.48688062A>T | CA346744897 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1735T>A (p.Phe579Ile) c.*47T>A (n.*47T>A) c.3441+16382A>T (n.3441+16382A>T) c.*479T>A (n.*479T>A) c.1654T>A (p.Phe552Ile) c.276+16382A>T (n.276+16382A>T) c.*220+6162T>A (n.*220+6162T>A) c.778T>A (p.Phe260Ile) c.805T>A (p.Phe269Ile) c.1660T>A (p.Phe554Ile) c.1474T>A (p.Phe492Ile) c.1393T>A (p.Phe465Ile) c.1099T>A (p.Phe367Ile) c.1480T>A (p.Phe494Ile) | |
2 | g.48688063A>C | CA346744901 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1734T>G (p.Asp578Glu) c.*46T>G (n.*46T>G) c.3441+16383A>C (n.3441+16383A>C) c.*478T>G (n.*478T>G) c.1653T>G (p.Asp551Glu) c.276+16383A>C (n.276+16383A>C) c.*220+6161T>G (n.*220+6161T>G) c.777T>G (p.Asp259Glu) c.804T>G (p.Asp268Glu) c.1659T>G (p.Asp553Glu) c.1473T>G (p.Asp491Glu) c.1392T>G (p.Asp464Glu) c.1098T>G (p.Asp366Glu) c.1479T>G (p.Asp493Glu) | |
2 | g.48688063A>G | CA426124926 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1734T>C (p.Asp578=) c.*46T>C (n.*46T>C) c.3441+16383A>G (n.3441+16383A>G) c.*478T>C (n.*478T>C) c.1653T>C (p.Asp551=) c.276+16383A>G (n.276+16383A>G) c.*220+6161T>C (n.*220+6161T>C) c.777T>C (p.Asp259=) c.804T>C (p.Asp268=) c.1659T>C (p.Asp553=) c.1473T>C (p.Asp491=) c.1392T>C (p.Asp464=) c.1098T>C (p.Asp366=) c.1479T>C (p.Asp493=) | |
2 | g.48688063A>T | CA346744904 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1734T>A (p.Asp578Glu) c.*46T>A (n.*46T>A) c.3441+16383A>T (n.3441+16383A>T) c.*478T>A (n.*478T>A) c.1653T>A (p.Asp551Glu) c.276+16383A>T (n.276+16383A>T) c.*220+6161T>A (n.*220+6161T>A) c.777T>A (p.Asp259Glu) c.804T>A (p.Asp268Glu) c.1659T>A (p.Asp553Glu) c.1473T>A (p.Asp491Glu) c.1392T>A (p.Asp464Glu) c.1098T>A (p.Asp366Glu) c.1479T>A (p.Asp493Glu) | |
2 | g.48688064T>A | CA346744908 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1733A>T (p.Asp578Val) c.*45A>T (n.*45A>T) c.3441+16384T>A (n.3441+16384T>A) c.*477A>T (n.*477A>T) c.1652A>T (p.Asp551Val) c.276+16384T>A (n.276+16384T>A) c.*220+6160A>T (n.*220+6160A>T) c.776A>T (p.Asp259Val) c.803A>T (p.Asp268Val) c.1658A>T (p.Asp553Val) c.1472A>T (p.Asp491Val) c.1391A>T (p.Asp464Val) c.1097A>T (p.Asp366Val) c.1478A>T (p.Asp493Val) | |
2 | g.48688064T>C | CA123916 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1733A>G (p.Asp578Gly) c.*45A>G (n.*45A>G) c.3441+16384T>C (n.3441+16384T>C) c.*477A>G (n.*477A>G) c.1652A>G (p.Asp551Gly) c.276+16384T>C (n.276+16384T>C) c.*220+6160A>G (n.*220+6160A>G) c.776A>G (p.Asp259Gly) c.803A>G (p.Asp268Gly) c.1658A>G (p.Asp553Gly) c.1472A>G (p.Asp491Gly) c.1391A>G (p.Asp464Gly) c.1097A>G (p.Asp366Gly) c.1478A>G (p.Asp493Gly) | ClinVar dbSNP |
2 | g.48688064T>G | CA346744915 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1733A>C (p.Asp578Ala) c.*45A>C (n.*45A>C) c.3441+16384T>G (n.3441+16384T>G) c.*477A>C (n.*477A>C) c.1652A>C (p.Asp551Ala) c.276+16384T>G (n.276+16384T>G) c.*220+6160A>C (n.*220+6160A>C) c.776A>C (p.Asp259Ala) c.803A>C (p.Asp268Ala) c.1658A>C (p.Asp553Ala) c.1472A>C (p.Asp491Ala) c.1391A>C (p.Asp464Ala) c.1097A>C (p.Asp366Ala) c.1478A>C (p.Asp493Ala) | ClinVar dbSNP |
2 | g.48688064T= | CA1248600970 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1733A= (p.Asp578=) c.*45A= (n.*45A=) c.3441+16384T= (n.3441+16384T=) c.*477A= (n.*477A=) c.1652A= (p.Asp551=) c.276+16384T= (n.276+16384T=) c.*220+6160A= (n.*220+6160A=) c.776A= (p.Asp259=) c.803A= (p.Asp268=) c.1658A= (p.Asp553=) c.1472A= (p.Asp491=) c.1391A= (p.Asp464=) c.1097A= (p.Asp366=) c.1478A= (p.Asp493=) | |
2 | g.48688065C>A | CA214133 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1732G>T (p.Asp578Tyr) c.*44G>T (n.*44G>T) c.3441+16385C>A (n.3441+16385C>A) c.*476G>T (n.*476G>T) c.1651G>T (p.Asp551Tyr) c.276+16385C>A (n.276+16385C>A) c.*220+6159G>T (n.*220+6159G>T) c.775G>T (p.Asp259Tyr) c.802G>T (p.Asp268Tyr) c.1657G>T (p.Asp553Tyr) c.1471G>T (p.Asp491Tyr) c.1390G>T (p.Asp464Tyr) c.1096G>T (p.Asp366Tyr) c.1477G>T (p.Asp493Tyr) | ClinVar dbSNP |
2 | g.48688065C= | CA1248600971 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1732G= (p.Asp578=) c.*44G= (n.*44G=) c.3441+16385C= (n.3441+16385C=) c.*476G= (n.*476G=) c.1651G= (p.Asp551=) c.276+16385C= (n.276+16385C=) c.*220+6159G= (n.*220+6159G=) c.775G= (p.Asp259=) c.802G= (p.Asp268=) c.1657G= (p.Asp553=) c.1471G= (p.Asp491=) c.1390G= (p.Asp464=) c.1096G= (p.Asp366=) c.1477G= (p.Asp493=) | |
2 | g.48688065C>G | CA123930 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1732G>C (p.Asp578His) c.*44G>C (n.*44G>C) c.3441+16385C>G (n.3441+16385C>G) c.*476G>C (n.*476G>C) c.1651G>C (p.Asp551His) c.276+16385C>G (n.276+16385C>G) c.*220+6159G>C (n.*220+6159G>C) c.775G>C (p.Asp259His) c.802G>C (p.Asp268His) c.1657G>C (p.Asp553His) c.1471G>C (p.Asp491His) c.1390G>C (p.Asp464His) c.1096G>C (p.Asp366His) c.1477G>C (p.Asp493His) | ClinVar dbSNP |
2 | g.48688065C>T | CA1652997 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1732G>A (p.Asp578Asn) c.*44G>A (n.*44G>A) c.3441+16385C>T (n.3441+16385C>T) c.*476G>A (n.*476G>A) c.1651G>A (p.Asp551Asn) c.276+16385C>T (n.276+16385C>T) c.*220+6159G>A (n.*220+6159G>A) c.775G>A (p.Asp259Asn) c.802G>A (p.Asp268Asn) c.1657G>A (p.Asp553Asn) c.1471G>A (p.Asp491Asn) c.1390G>A (p.Asp464Asn) c.1096G>A (p.Asp366Asn) c.1477G>A (p.Asp493Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688066G>A | CA1652998 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1731C>T (p.Thr577=) c.*43C>T (n.*43C>T) c.3441+16386G>A (n.3441+16386G>A) c.*475C>T (n.*475C>T) c.1650C>T (p.Thr550=) c.276+16386G>A (n.276+16386G>A) c.*220+6158C>T (n.*220+6158C>T) c.774C>T (p.Thr258=) c.801C>T (p.Thr267=) c.1656C>T (p.Thr552=) c.1470C>T (p.Thr490=) c.1389C>T (p.Thr463=) c.1095C>T (p.Thr365=) c.1476C>T (p.Thr492=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688066G>C | CA426124927 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1731C>G (p.Thr577=) c.*43C>G (n.*43C>G) c.3441+16386G>C (n.3441+16386G>C) c.*475C>G (n.*475C>G) c.1650C>G (p.Thr550=) c.276+16386G>C (n.276+16386G>C) c.*220+6158C>G (n.*220+6158C>G) c.774C>G (p.Thr258=) c.801C>G (p.Thr267=) c.1656C>G (p.Thr552=) c.1470C>G (p.Thr490=) c.1389C>G (p.Thr463=) c.1095C>G (p.Thr365=) c.1476C>G (p.Thr492=) | |
2 | g.48688066G= | CA1248600972 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1731C= (p.Thr577=) c.*43C= (n.*43C=) c.3441+16386G= (n.3441+16386G=) c.*475C= (n.*475C=) c.1650C= (p.Thr550=) c.276+16386G= (n.276+16386G=) c.*220+6158C= (n.*220+6158C=) c.774C= (p.Thr258=) c.801C= (p.Thr267=) c.1656C= (p.Thr552=) c.1470C= (p.Thr490=) c.1389C= (p.Thr463=) c.1095C= (p.Thr365=) c.1476C= (p.Thr492=) | |
2 | g.48688066G>T | CA426124928 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1731C>A (p.Thr577=) c.*43C>A (n.*43C>A) c.3441+16386G>T (n.3441+16386G>T) c.*475C>A (n.*475C>A) c.1650C>A (p.Thr550=) c.276+16386G>T (n.276+16386G>T) c.*220+6158C>A (n.*220+6158C>A) c.774C>A (p.Thr258=) c.801C>A (p.Thr267=) c.1656C>A (p.Thr552=) c.1470C>A (p.Thr490=) c.1389C>A (p.Thr463=) c.1095C>A (p.Thr365=) c.1476C>A (p.Thr492=) | |
2 | g.48688067G>A | CA123919 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1730C>T (p.Thr577Ile) c.*42C>T (n.*42C>T) c.3441+16387G>A (n.3441+16387G>A) c.*474C>T (n.*474C>T) c.1649C>T (p.Thr550Ile) c.276+16387G>A (n.276+16387G>A) c.*220+6157C>T (n.*220+6157C>T) c.773C>T (p.Thr258Ile) c.800C>T (p.Thr267Ile) c.1655C>T (p.Thr552Ile) c.1469C>T (p.Thr490Ile) c.1388C>T (p.Thr463Ile) c.1094C>T (p.Thr365Ile) c.1475C>T (p.Thr492Ile) | ClinVar dbSNP COSMIC |
2 | g.48688067G>C | CA346744921 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1730C>G (p.Thr577Ser) c.*42C>G (n.*42C>G) c.3441+16387G>C (n.3441+16387G>C) c.*474C>G (n.*474C>G) c.1649C>G (p.Thr550Ser) c.276+16387G>C (n.276+16387G>C) c.*220+6157C>G (n.*220+6157C>G) c.773C>G (p.Thr258Ser) c.800C>G (p.Thr267Ser) c.1655C>G (p.Thr552Ser) c.1469C>G (p.Thr490Ser) c.1388C>G (p.Thr463Ser) c.1094C>G (p.Thr365Ser) c.1475C>G (p.Thr492Ser) | |
2 | g.48688067G= | CA1248600973 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1730C= (p.Thr577=) c.*42C= (n.*42C=) c.3441+16387G= (n.3441+16387G=) c.*474C= (n.*474C=) c.1649C= (p.Thr550=) c.276+16387G= (n.276+16387G=) c.*220+6157C= (n.*220+6157C=) c.773C= (p.Thr258=) c.800C= (p.Thr267=) c.1655C= (p.Thr552=) c.1469C= (p.Thr490=) c.1388C= (p.Thr463=) c.1094C= (p.Thr365=) c.1475C= (p.Thr492=) | |
2 | g.48688067G>T | CA346744923 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1730C>A (p.Thr577Asn) c.*42C>A (n.*42C>A) c.3441+16387G>T (n.3441+16387G>T) c.*474C>A (n.*474C>A) c.1649C>A (p.Thr550Asn) c.276+16387G>T (n.276+16387G>T) c.*220+6157C>A (n.*220+6157C>A) c.773C>A (p.Thr258Asn) c.800C>A (p.Thr267Asn) c.1655C>A (p.Thr552Asn) c.1469C>A (p.Thr490Asn) c.1388C>A (p.Thr463Asn) c.1094C>A (p.Thr365Asn) c.1475C>A (p.Thr492Asn) | |
2 | g.48688068T>A | CA346744927 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1729A>T (p.Thr577Ser) c.*41A>T (n.*41A>T) c.3441+16388T>A (n.3441+16388T>A) c.*473A>T (n.*473A>T) c.1648A>T (p.Thr550Ser) c.276+16388T>A (n.276+16388T>A) c.*220+6156A>T (n.*220+6156A>T) c.772A>T (p.Thr258Ser) c.799A>T (p.Thr267Ser) c.1654A>T (p.Thr552Ser) c.1468A>T (p.Thr490Ser) c.1387A>T (p.Thr463Ser) c.1093A>T (p.Thr365Ser) c.1474A>T (p.Thr492Ser) | dbSNP |
2 | g.48688068T>C | CA346744935 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1729A>G (p.Thr577Ala) c.*41A>G (n.*41A>G) c.3441+16388T>C (n.3441+16388T>C) c.*473A>G (n.*473A>G) c.1648A>G (p.Thr550Ala) c.276+16388T>C (n.276+16388T>C) c.*220+6156A>G (n.*220+6156A>G) c.772A>G (p.Thr258Ala) c.799A>G (p.Thr267Ala) c.1654A>G (p.Thr552Ala) c.1468A>G (p.Thr490Ala) c.1387A>G (p.Thr463Ala) c.1093A>G (p.Thr365Ala) c.1474A>G (p.Thr492Ala) | |
2 | g.48688068T>G | CA346744939 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1729A>C (p.Thr577Pro) c.*41A>C (n.*41A>C) c.3441+16388T>G (n.3441+16388T>G) c.*473A>C (n.*473A>C) c.1648A>C (p.Thr550Pro) c.276+16388T>G (n.276+16388T>G) c.*220+6156A>C (n.*220+6156A>C) c.772A>C (p.Thr258Pro) c.799A>C (p.Thr267Pro) c.1654A>C (p.Thr552Pro) c.1468A>C (p.Thr490Pro) c.1387A>C (p.Thr463Pro) c.1093A>C (p.Thr365Pro) c.1474A>C (p.Thr492Pro) | |
2 | g.48688068T= | CA1248600974 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1729A= (p.Thr577=) c.*41A= (n.*41A=) c.3441+16388T= (n.3441+16388T=) c.*473A= (n.*473A=) c.1648A= (p.Thr550=) c.276+16388T= (n.276+16388T=) c.*220+6156A= (n.*220+6156A=) c.772A= (p.Thr258=) c.799A= (p.Thr267=) c.1654A= (p.Thr552=) c.1468A= (p.Thr490=) c.1387A= (p.Thr463=) c.1093A= (p.Thr365=) c.1474A= (p.Thr492=) | |
2 | g.48688069G>A | CA426124929 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1728C>T (p.Phe576=) c.*40C>T (n.*40C>T) c.3441+16389G>A (n.3441+16389G>A) c.*472C>T (n.*472C>T) c.1647C>T (p.Phe549=) c.276+16389G>A (n.276+16389G>A) c.*220+6155C>T (n.*220+6155C>T) c.771C>T (p.Phe257=) c.798C>T (p.Phe266=) c.1653C>T (p.Phe551=) c.1467C>T (p.Phe489=) c.1386C>T (p.Phe462=) c.1092C>T (p.Phe364=) c.1473C>T (p.Phe491=) | |
2 | g.48688069G>C | CA346744943 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1728C>G (p.Phe576Leu) c.*40C>G (n.*40C>G) c.3441+16389G>C (n.3441+16389G>C) c.*472C>G (n.*472C>G) c.1647C>G (p.Phe549Leu) c.276+16389G>C (n.276+16389G>C) c.*220+6155C>G (n.*220+6155C>G) c.771C>G (p.Phe257Leu) c.798C>G (p.Phe266Leu) c.1653C>G (p.Phe551Leu) c.1467C>G (p.Phe489Leu) c.1386C>G (p.Phe462Leu) c.1092C>G (p.Phe364Leu) c.1473C>G (p.Phe491Leu) | |
2 | g.48688069G>T | CA346744944 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1728C>A (p.Phe576Leu) c.*40C>A (n.*40C>A) c.3441+16389G>T (n.3441+16389G>T) c.*472C>A (n.*472C>A) c.1647C>A (p.Phe549Leu) c.276+16389G>T (n.276+16389G>T) c.*220+6155C>A (n.*220+6155C>A) c.771C>A (p.Phe257Leu) c.798C>A (p.Phe266Leu) c.1653C>A (p.Phe551Leu) c.1467C>A (p.Phe489Leu) c.1386C>A (p.Phe462Leu) c.1092C>A (p.Phe364Leu) c.1473C>A (p.Phe491Leu) | |
2 | g.48688070A>C | CA346744947 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1727T>G (p.Phe576Cys) c.*39T>G (n.*39T>G) c.3441+16390A>C (n.3441+16390A>C) c.*471T>G (n.*471T>G) c.1646T>G (p.Phe549Cys) c.276+16390A>C (n.276+16390A>C) c.*220+6154T>G (n.*220+6154T>G) c.770T>G (p.Phe257Cys) c.797T>G (p.Phe266Cys) c.1652T>G (p.Phe551Cys) c.1466T>G (p.Phe489Cys) c.1385T>G (p.Phe462Cys) c.1091T>G (p.Phe364Cys) c.1472T>G (p.Phe491Cys) | |
2 | g.48688070A>G | CA346744952 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1727T>C (p.Phe576Ser) c.*39T>C (n.*39T>C) c.3441+16390A>G (n.3441+16390A>G) c.*471T>C (n.*471T>C) c.1646T>C (p.Phe549Ser) c.276+16390A>G (n.276+16390A>G) c.*220+6154T>C (n.*220+6154T>C) c.770T>C (p.Phe257Ser) c.797T>C (p.Phe266Ser) c.1652T>C (p.Phe551Ser) c.1466T>C (p.Phe489Ser) c.1385T>C (p.Phe462Ser) c.1091T>C (p.Phe364Ser) c.1472T>C (p.Phe491Ser) | |
2 | g.48688070A>T | CA346744954 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1727T>A (p.Phe576Tyr) c.*39T>A (n.*39T>A) c.3441+16390A>T (n.3441+16390A>T) c.*471T>A (n.*471T>A) c.1646T>A (p.Phe549Tyr) c.276+16390A>T (n.276+16390A>T) c.*220+6154T>A (n.*220+6154T>A) c.770T>A (p.Phe257Tyr) c.797T>A (p.Phe266Tyr) c.1652T>A (p.Phe551Tyr) c.1466T>A (p.Phe489Tyr) c.1385T>A (p.Phe462Tyr) c.1091T>A (p.Phe364Tyr) c.1472T>A (p.Phe491Tyr) | |
2 | g.48688071A>C | CA346744960 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1726T>G (p.Phe576Val) c.*38T>G (n.*38T>G) c.3441+16391A>C (n.3441+16391A>C) c.*470T>G (n.*470T>G) c.1645T>G (p.Phe549Val) c.276+16391A>C (n.276+16391A>C) c.*220+6153T>G (n.*220+6153T>G) c.769T>G (p.Phe257Val) c.796T>G (p.Phe266Val) c.1651T>G (p.Phe551Val) c.1465T>G (p.Phe489Val) c.1384T>G (p.Phe462Val) c.1090T>G (p.Phe364Val) c.1471T>G (p.Phe491Val) | |
2 | g.48688071A>G | CA346744963 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1726T>C (p.Phe576Leu) c.*38T>C (n.*38T>C) c.3441+16391A>G (n.3441+16391A>G) c.*470T>C (n.*470T>C) c.1645T>C (p.Phe549Leu) c.276+16391A>G (n.276+16391A>G) c.*220+6153T>C (n.*220+6153T>C) c.769T>C (p.Phe257Leu) c.796T>C (p.Phe266Leu) c.1651T>C (p.Phe551Leu) c.1465T>C (p.Phe489Leu) c.1384T>C (p.Phe462Leu) c.1090T>C (p.Phe364Leu) c.1471T>C (p.Phe491Leu) | |
2 | g.48688071A>T | CA346744957 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1726T>A (p.Phe576Ile) c.*38T>A (n.*38T>A) c.3441+16391A>T (n.3441+16391A>T) c.*470T>A (n.*470T>A) c.1645T>A (p.Phe549Ile) c.276+16391A>T (n.276+16391A>T) c.*220+6153T>A (n.*220+6153T>A) c.769T>A (p.Phe257Ile) c.796T>A (p.Phe266Ile) c.1651T>A (p.Phe551Ile) c.1465T>A (p.Phe489Ile) c.1384T>A (p.Phe462Ile) c.1090T>A (p.Phe364Ile) c.1471T>A (p.Phe491Ile) | |
2 | g.48688072G>A | CA426124930 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1725C>T (p.Ile575=) c.*37C>T (n.*37C>T) c.3441+16392G>A (n.3441+16392G>A) c.*469C>T (n.*469C>T) c.1644C>T (p.Ile548=) c.276+16392G>A (n.276+16392G>A) c.*220+6152C>T (n.*220+6152C>T) c.768C>T (p.Ile256=) c.795C>T (p.Ile265=) c.1650C>T (p.Ile550=) c.1464C>T (p.Ile488=) c.1383C>T (p.Ile461=) c.1089C>T (p.Ile363=) c.1470C>T (p.Ile490=) | dbSNP gnomAD v4 |
2 | g.48688072G>C | CA346744966 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1725C>G (p.Ile575Met) c.*37C>G (n.*37C>G) c.3441+16392G>C (n.3441+16392G>C) c.*469C>G (n.*469C>G) c.1644C>G (p.Ile548Met) c.276+16392G>C (n.276+16392G>C) c.*220+6152C>G (n.*220+6152C>G) c.768C>G (p.Ile256Met) c.795C>G (p.Ile265Met) c.1650C>G (p.Ile550Met) c.1464C>G (p.Ile488Met) c.1383C>G (p.Ile461Met) c.1089C>G (p.Ile363Met) c.1470C>G (p.Ile490Met) | gnomAD v4 |
2 | g.48688072G= | CA1248600975 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1725C= (p.Ile575=) c.*37C= (n.*37C=) c.3441+16392G= (n.3441+16392G=) c.*469C= (n.*469C=) c.1644C= (p.Ile548=) c.276+16392G= (n.276+16392G=) c.*220+6152C= (n.*220+6152C=) c.768C= (p.Ile256=) c.795C= (p.Ile265=) c.1650C= (p.Ile550=) c.1464C= (p.Ile488=) c.1383C= (p.Ile461=) c.1089C= (p.Ile363=) c.1470C= (p.Ile490=) | |
2 | g.48688072G>T | CA426124931 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1725C>A (p.Ile575=) c.*37C>A (n.*37C>A) c.3441+16392G>T (n.3441+16392G>T) c.*469C>A (n.*469C>A) c.1644C>A (p.Ile548=) c.276+16392G>T (n.276+16392G>T) c.*220+6152C>A (n.*220+6152C>A) c.768C>A (p.Ile256=) c.795C>A (p.Ile265=) c.1650C>A (p.Ile550=) c.1464C>A (p.Ile488=) c.1383C>A (p.Ile461=) c.1089C>A (p.Ile363=) c.1470C>A (p.Ile490=) | COSMIC |
2 | g.48688073A= | CA1248600976 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1724T= (p.Ile575=) c.*36T= (n.*36T=) c.3441+16393A= (n.3441+16393A=) c.*468T= (n.*468T=) c.1643T= (p.Ile548=) c.276+16393A= (n.276+16393A=) c.*220+6151T= (n.*220+6151T=) c.767T= (p.Ile256=) c.794T= (p.Ile265=) c.1649T= (p.Ile550=) c.1463T= (p.Ile488=) c.1382T= (p.Ile461=) c.1088T= (p.Ile363=) c.1469T= (p.Ile490=) | |
2 | g.48688073A>C | CA346744967 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1724T>G (p.Ile575Ser) c.*36T>G (n.*36T>G) c.3441+16393A>C (n.3441+16393A>C) c.*468T>G (n.*468T>G) c.1643T>G (p.Ile548Ser) c.276+16393A>C (n.276+16393A>C) c.*220+6151T>G (n.*220+6151T>G) c.767T>G (p.Ile256Ser) c.794T>G (p.Ile265Ser) c.1649T>G (p.Ile550Ser) c.1463T>G (p.Ile488Ser) c.1382T>G (p.Ile461Ser) c.1088T>G (p.Ile363Ser) c.1469T>G (p.Ile490Ser) | |
2 | g.48688073A>G | CA1652999 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1724T>C (p.Ile575Thr) c.*36T>C (n.*36T>C) c.3441+16393A>G (n.3441+16393A>G) c.*468T>C (n.*468T>C) c.1643T>C (p.Ile548Thr) c.276+16393A>G (n.276+16393A>G) c.*220+6151T>C (n.*220+6151T>C) c.767T>C (p.Ile256Thr) c.794T>C (p.Ile265Thr) c.1649T>C (p.Ile550Thr) c.1463T>C (p.Ile488Thr) c.1382T>C (p.Ile461Thr) c.1088T>C (p.Ile363Thr) c.1469T>C (p.Ile490Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688073A>T | CA346744968 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1724T>A (p.Ile575Asn) c.*36T>A (n.*36T>A) c.3441+16393A>T (n.3441+16393A>T) c.*468T>A (n.*468T>A) c.1643T>A (p.Ile548Asn) c.276+16393A>T (n.276+16393A>T) c.*220+6151T>A (n.*220+6151T>A) c.767T>A (p.Ile256Asn) c.794T>A (p.Ile265Asn) c.1649T>A (p.Ile550Asn) c.1463T>A (p.Ile488Asn) c.1382T>A (p.Ile461Asn) c.1088T>A (p.Ile363Asn) c.1469T>A (p.Ile490Asn) | |
2 | g.48688074T>A | CA346744975 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1723A>T (p.Ile575Phe) c.*35A>T (n.*35A>T) c.3441+16394T>A (n.3441+16394T>A) c.*467A>T (n.*467A>T) c.1642A>T (p.Ile548Phe) c.276+16394T>A (n.276+16394T>A) c.*220+6150A>T (n.*220+6150A>T) c.766A>T (p.Ile256Phe) c.793A>T (p.Ile265Phe) c.1648A>T (p.Ile550Phe) c.1462A>T (p.Ile488Phe) c.1381A>T (p.Ile461Phe) c.1087A>T (p.Ile363Phe) c.1468A>T (p.Ile490Phe) | |
2 | g.48688074T>C | CA1653000 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1723A>G (p.Ile575Val) c.*35A>G (n.*35A>G) c.3441+16394T>C (n.3441+16394T>C) c.*467A>G (n.*467A>G) c.1642A>G (p.Ile548Val) c.276+16394T>C (n.276+16394T>C) c.*220+6150A>G (n.*220+6150A>G) c.766A>G (p.Ile256Val) c.793A>G (p.Ile265Val) c.1648A>G (p.Ile550Val) c.1462A>G (p.Ile488Val) c.1381A>G (p.Ile461Val) c.1087A>G (p.Ile363Val) c.1468A>G (p.Ile490Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688074T>G | CA346744972 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1723A>C (p.Ile575Leu) c.*35A>C (n.*35A>C) c.3441+16394T>G (n.3441+16394T>G) c.*467A>C (n.*467A>C) c.1642A>C (p.Ile548Leu) c.276+16394T>G (n.276+16394T>G) c.*220+6150A>C (n.*220+6150A>C) c.766A>C (p.Ile256Leu) c.793A>C (p.Ile265Leu) c.1648A>C (p.Ile550Leu) c.1462A>C (p.Ile488Leu) c.1381A>C (p.Ile461Leu) c.1087A>C (p.Ile363Leu) c.1468A>C (p.Ile490Leu) | ClinVar dbSNP |
2 | g.48688074T= | CA1248600977 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1723A= (p.Ile575=) c.*35A= (n.*35A=) c.3441+16394T= (n.3441+16394T=) c.*467A= (n.*467A=) c.1642A= (p.Ile548=) c.276+16394T= (n.276+16394T=) c.*220+6150A= (n.*220+6150A=) c.766A= (p.Ile256=) c.793A= (p.Ile265=) c.1648A= (p.Ile550=) c.1462A= (p.Ile488=) c.1381A= (p.Ile461=) c.1087A= (p.Ile363=) c.1468A= (p.Ile490=) | |
2 | g.48688075G>A | CA426124936 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1722C>T (p.Leu574=) c.*34C>T (n.*34C>T) c.3441+16395G>A (n.3441+16395G>A) c.*466C>T (n.*466C>T) c.1641C>T (p.Leu547=) c.276+16395G>A (n.276+16395G>A) c.*220+6149C>T (n.*220+6149C>T) c.765C>T (p.Leu255=) c.792C>T (p.Leu264=) c.1647C>T (p.Leu549=) c.1461C>T (p.Leu487=) c.1380C>T (p.Leu460=) c.1086C>T (p.Leu362=) c.1467C>T (p.Leu489=) | |
2 | g.48688075G>C | CA426124937 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1722C>G (p.Leu574=) c.*34C>G (n.*34C>G) c.3441+16395G>C (n.3441+16395G>C) c.*466C>G (n.*466C>G) c.1641C>G (p.Leu547=) c.276+16395G>C (n.276+16395G>C) c.*220+6149C>G (n.*220+6149C>G) c.765C>G (p.Leu255=) c.792C>G (p.Leu264=) c.1647C>G (p.Leu549=) c.1461C>G (p.Leu487=) c.1380C>G (p.Leu460=) c.1086C>G (p.Leu362=) c.1467C>G (p.Leu489=) | |
2 | g.48688075G>T | CA426124938 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1722C>A (p.Leu574=) c.*34C>A (n.*34C>A) c.3441+16395G>T (n.3441+16395G>T) c.*466C>A (n.*466C>A) c.1641C>A (p.Leu547=) c.276+16395G>T (n.276+16395G>T) c.*220+6149C>A (n.*220+6149C>A) c.765C>A (p.Leu255=) c.792C>A (p.Leu264=) c.1647C>A (p.Leu549=) c.1461C>A (p.Leu487=) c.1380C>A (p.Leu460=) c.1086C>A (p.Leu362=) c.1467C>A (p.Leu489=) | |
2 | g.48688076A>C | CA346744979 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1721T>G (p.Leu574Arg) c.*33T>G (n.*33T>G) c.3441+16396A>C (n.3441+16396A>C) c.*465T>G (n.*465T>G) c.1640T>G (p.Leu547Arg) c.276+16396A>C (n.276+16396A>C) c.*220+6148T>G (n.*220+6148T>G) c.764T>G (p.Leu255Arg) c.791T>G (p.Leu264Arg) c.1646T>G (p.Leu549Arg) c.1460T>G (p.Leu487Arg) c.1379T>G (p.Leu460Arg) c.1085T>G (p.Leu362Arg) c.1466T>G (p.Leu489Arg) | |
2 | g.48688076A>G | CA346744982 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1721T>C (p.Leu574Pro) c.*33T>C (n.*33T>C) c.3441+16396A>G (n.3441+16396A>G) c.*465T>C (n.*465T>C) c.1640T>C (p.Leu547Pro) c.276+16396A>G (n.276+16396A>G) c.*220+6148T>C (n.*220+6148T>C) c.764T>C (p.Leu255Pro) c.791T>C (p.Leu264Pro) c.1646T>C (p.Leu549Pro) c.1460T>C (p.Leu487Pro) c.1379T>C (p.Leu460Pro) c.1085T>C (p.Leu362Pro) c.1466T>C (p.Leu489Pro) | |
2 | g.48688076A>T | CA346744996 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1721T>A (p.Leu574His) c.*33T>A (n.*33T>A) c.3441+16396A>T (n.3441+16396A>T) c.*465T>A (n.*465T>A) c.1640T>A (p.Leu547His) c.276+16396A>T (n.276+16396A>T) c.*220+6148T>A (n.*220+6148T>A) c.764T>A (p.Leu255His) c.791T>A (p.Leu264His) c.1646T>A (p.Leu549His) c.1460T>A (p.Leu487His) c.1379T>A (p.Leu460His) c.1085T>A (p.Leu362His) c.1466T>A (p.Leu489His) | |
2 | g.48688077G>A | CA346744998 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1720C>T (p.Leu574Phe) c.*32C>T (n.*32C>T) c.3441+16397G>A (n.3441+16397G>A) c.*464C>T (n.*464C>T) c.1639C>T (p.Leu547Phe) c.276+16397G>A (n.276+16397G>A) c.*220+6147C>T (n.*220+6147C>T) c.763C>T (p.Leu255Phe) c.790C>T (p.Leu264Phe) c.1645C>T (p.Leu549Phe) c.1459C>T (p.Leu487Phe) c.1378C>T (p.Leu460Phe) c.1084C>T (p.Leu362Phe) c.1465C>T (p.Leu489Phe) | COSMIC |
2 | g.48688077G>C | CA346744999 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1720C>G (p.Leu574Val) c.*32C>G (n.*32C>G) c.3441+16397G>C (n.3441+16397G>C) c.*464C>G (n.*464C>G) c.1639C>G (p.Leu547Val) c.276+16397G>C (n.276+16397G>C) c.*220+6147C>G (n.*220+6147C>G) c.763C>G (p.Leu255Val) c.790C>G (p.Leu264Val) c.1645C>G (p.Leu549Val) c.1459C>G (p.Leu487Val) c.1378C>G (p.Leu460Val) c.1084C>G (p.Leu362Val) c.1465C>G (p.Leu489Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688077G= | CA1248600978 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1720C= (p.Leu574=) c.*32C= (n.*32C=) c.3441+16397G= (n.3441+16397G=) c.*464C= (n.*464C=) c.1639C= (p.Leu547=) c.276+16397G= (n.276+16397G=) c.*220+6147C= (n.*220+6147C=) c.763C= (p.Leu255=) c.790C= (p.Leu264=) c.1645C= (p.Leu549=) c.1459C= (p.Leu487=) c.1378C= (p.Leu460=) c.1084C= (p.Leu362=) c.1465C= (p.Leu489=) | |
2 | g.48688077G>T | CA346745000 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1720C>A (p.Leu574Ile) c.*32C>A (n.*32C>A) c.3441+16397G>T (n.3441+16397G>T) c.*464C>A (n.*464C>A) c.1639C>A (p.Leu547Ile) c.276+16397G>T (n.276+16397G>T) c.*220+6147C>A (n.*220+6147C>A) c.763C>A (p.Leu255Ile) c.790C>A (p.Leu264Ile) c.1645C>A (p.Leu549Ile) c.1459C>A (p.Leu487Ile) c.1378C>A (p.Leu460Ile) c.1084C>A (p.Leu362Ile) c.1465C>A (p.Leu489Ile) | |
2 | g.48688078G>A | CA426124941 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1719C>T (p.Ile573=) c.*31C>T (n.*31C>T) c.3441+16398G>A (n.3441+16398G>A) c.*463C>T (n.*463C>T) c.1638C>T (p.Ile546=) c.276+16398G>A (n.276+16398G>A) c.*220+6146C>T (n.*220+6146C>T) c.762C>T (p.Ile254=) c.789C>T (p.Ile263=) c.1644C>T (p.Ile548=) c.1458C>T (p.Ile486=) c.1377C>T (p.Ile459=) c.1083C>T (p.Ile361=) c.1464C>T (p.Ile488=) | |
2 | g.48688078G>C | CA346745002 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1719C>G (p.Ile573Met) c.*31C>G (n.*31C>G) c.3441+16398G>C (n.3441+16398G>C) c.*463C>G (n.*463C>G) c.1638C>G (p.Ile546Met) c.276+16398G>C (n.276+16398G>C) c.*220+6146C>G (n.*220+6146C>G) c.762C>G (p.Ile254Met) c.789C>G (p.Ile263Met) c.1644C>G (p.Ile548Met) c.1458C>G (p.Ile486Met) c.1377C>G (p.Ile459Met) c.1083C>G (p.Ile361Met) c.1464C>G (p.Ile488Met) | |
2 | g.48688078G>T | CA426124943 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1719C>A (p.Ile573=) c.*31C>A (n.*31C>A) c.3441+16398G>T (n.3441+16398G>T) c.*463C>A (n.*463C>A) c.1638C>A (p.Ile546=) c.276+16398G>T (n.276+16398G>T) c.*220+6146C>A (n.*220+6146C>A) c.762C>A (p.Ile254=) c.789C>A (p.Ile263=) c.1644C>A (p.Ile548=) c.1458C>A (p.Ile486=) c.1377C>A (p.Ile459=) c.1083C>A (p.Ile361=) c.1464C>A (p.Ile488=) | |
2 | g.48688079A= | CA1248600979 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1718T= (p.Ile573=) c.*30T= (n.*30T=) c.3441+16399A= (n.3441+16399A=) c.*462T= (n.*462T=) c.1637T= (p.Ile546=) c.276+16399A= (n.276+16399A=) c.*220+6145T= (n.*220+6145T=) c.761T= (p.Ile254=) c.788T= (p.Ile263=) c.1643T= (p.Ile548=) c.1457T= (p.Ile486=) c.1376T= (p.Ile459=) c.1082T= (p.Ile361=) c.1463T= (p.Ile488=) | |
2 | g.48688079A>C | CA346745008 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1718T>G (p.Ile573Ser) c.*30T>G (n.*30T>G) c.3441+16399A>C (n.3441+16399A>C) c.*462T>G (n.*462T>G) c.1637T>G (p.Ile546Ser) c.276+16399A>C (n.276+16399A>C) c.*220+6145T>G (n.*220+6145T>G) c.761T>G (p.Ile254Ser) c.788T>G (p.Ile263Ser) c.1643T>G (p.Ile548Ser) c.1457T>G (p.Ile486Ser) c.1376T>G (p.Ile459Ser) c.1082T>G (p.Ile361Ser) c.1463T>G (p.Ile488Ser) | |
2 | g.48688079A>G | CA346745011 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1718T>C (p.Ile573Thr) c.*30T>C (n.*30T>C) c.3441+16399A>G (n.3441+16399A>G) c.*462T>C (n.*462T>C) c.1637T>C (p.Ile546Thr) c.276+16399A>G (n.276+16399A>G) c.*220+6145T>C (n.*220+6145T>C) c.761T>C (p.Ile254Thr) c.788T>C (p.Ile263Thr) c.1643T>C (p.Ile548Thr) c.1457T>C (p.Ile486Thr) c.1376T>C (p.Ile459Thr) c.1082T>C (p.Ile361Thr) c.1463T>C (p.Ile488Thr) | |
2 | g.48688079A>T | CA346745006 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1718T>A (p.Ile573Asn) c.*30T>A (n.*30T>A) c.3441+16399A>T (n.3441+16399A>T) c.*462T>A (n.*462T>A) c.1637T>A (p.Ile546Asn) c.276+16399A>T (n.276+16399A>T) c.*220+6145T>A (n.*220+6145T>A) c.761T>A (p.Ile254Asn) c.788T>A (p.Ile263Asn) c.1643T>A (p.Ile548Asn) c.1457T>A (p.Ile486Asn) c.1376T>A (p.Ile459Asn) c.1082T>A (p.Ile361Asn) c.1463T>A (p.Ile488Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.48688082_48688087del | CA2658992080 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1713_1718del (p.Met571_Ala572del) c.*25_*30del (n.*25_*30del) c.3441+16402_3441+16407del (n.3441+16402_3441+16407del) c.*457_*462del (n.*457_*462del) c.1632_1637del (p.Met544_Ala545del) c.276+16402_276+16407del (n.276+16402_276+16407del) c.*220+6140_*220+6145del (n.*220+6140_*220+6145del) c.756_761del (p.Met252_Ala253del) c.783_788del (p.Met261_Ala262del) c.1638_1643del (p.Met546_Ala547del) c.1452_1457del (p.Met484_Ala485del) c.1371_1376del (p.Met457_Ala458del) c.1077_1082del (p.Met359_Ala360del) c.1458_1463del (p.Met486_Ala487del) | gnomAD v4 |
2 | g.48688080T>A | CA346745017 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1717A>T (p.Ile573Phe) c.*29A>T (n.*29A>T) c.3441+16400T>A (n.3441+16400T>A) c.*461A>T (n.*461A>T) c.1636A>T (p.Ile546Phe) c.276+16400T>A (n.276+16400T>A) c.*220+6144A>T (n.*220+6144A>T) c.760A>T (p.Ile254Phe) c.787A>T (p.Ile263Phe) c.1642A>T (p.Ile548Phe) c.1456A>T (p.Ile486Phe) c.1375A>T (p.Ile459Phe) c.1081A>T (p.Ile361Phe) c.1462A>T (p.Ile488Phe) | |
2 | g.48688080T>C | CA346745015 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1717A>G (p.Ile573Val) c.*29A>G (n.*29A>G) c.3441+16400T>C (n.3441+16400T>C) c.*461A>G (n.*461A>G) c.1636A>G (p.Ile546Val) c.276+16400T>C (n.276+16400T>C) c.*220+6144A>G (n.*220+6144A>G) c.760A>G (p.Ile254Val) c.787A>G (p.Ile263Val) c.1642A>G (p.Ile548Val) c.1456A>G (p.Ile486Val) c.1375A>G (p.Ile459Val) c.1081A>G (p.Ile361Val) c.1462A>G (p.Ile488Val) | dbSNP gnomAD v4 |
2 | g.48688080T>G | CA346745019 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1717A>C (p.Ile573Leu) c.*29A>C (n.*29A>C) c.3441+16400T>G (n.3441+16400T>G) c.*461A>C (n.*461A>C) c.1636A>C (p.Ile546Leu) c.276+16400T>G (n.276+16400T>G) c.*220+6144A>C (n.*220+6144A>C) c.760A>C (p.Ile254Leu) c.787A>C (p.Ile263Leu) c.1642A>C (p.Ile548Leu) c.1456A>C (p.Ile486Leu) c.1375A>C (p.Ile459Leu) c.1081A>C (p.Ile361Leu) c.1462A>C (p.Ile488Leu) | |
2 | g.48688080T= | CA1248600980 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1717A= (p.Ile573=) c.*29A= (n.*29A=) c.3441+16400T= (n.3441+16400T=) c.*461A= (n.*461A=) c.1636A= (p.Ile546=) c.276+16400T= (n.276+16400T=) c.*220+6144A= (n.*220+6144A=) c.760A= (p.Ile254=) c.787A= (p.Ile263=) c.1642A= (p.Ile548=) c.1456A= (p.Ile486=) c.1375A= (p.Ile459=) c.1081A= (p.Ile361=) c.1462A= (p.Ile488=) | |
2 | g.48688081T>A | CA426124945 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1716A>T (p.Ala572=) c.*28A>T (n.*28A>T) c.3441+16401T>A (n.3441+16401T>A) c.*460A>T (n.*460A>T) c.1635A>T (p.Ala545=) c.276+16401T>A (n.276+16401T>A) c.*220+6143A>T (n.*220+6143A>T) c.759A>T (p.Ala253=) c.786A>T (p.Ala262=) c.1641A>T (p.Ala547=) c.1455A>T (p.Ala485=) c.1374A>T (p.Ala458=) c.1080A>T (p.Ala360=) c.1461A>T (p.Ala487=) | |
2 | g.48688081T>C | CA426124946 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1716A>G (p.Ala572=) c.*28A>G (n.*28A>G) c.3441+16401T>C (n.3441+16401T>C) c.*460A>G (n.*460A>G) c.1635A>G (p.Ala545=) c.276+16401T>C (n.276+16401T>C) c.*220+6143A>G (n.*220+6143A>G) c.759A>G (p.Ala253=) c.786A>G (p.Ala262=) c.1641A>G (p.Ala547=) c.1455A>G (p.Ala485=) c.1374A>G (p.Ala458=) c.1080A>G (p.Ala360=) c.1461A>G (p.Ala487=) | |
2 | g.48688081T>G | CA426124947 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1716A>C (p.Ala572=) c.*28A>C (n.*28A>C) c.3441+16401T>G (n.3441+16401T>G) c.*460A>C (n.*460A>C) c.1635A>C (p.Ala545=) c.276+16401T>G (n.276+16401T>G) c.*220+6143A>C (n.*220+6143A>C) c.759A>C (p.Ala253=) c.786A>C (p.Ala262=) c.1641A>C (p.Ala547=) c.1455A>C (p.Ala485=) c.1374A>C (p.Ala458=) c.1080A>C (p.Ala360=) c.1461A>C (p.Ala487=) | |
2 | g.48688082G>A | CA123920 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1715C>T (p.Ala572Val) c.*27C>T (n.*27C>T) c.3441+16402G>A (n.3441+16402G>A) c.*459C>T (n.*459C>T) c.1634C>T (p.Ala545Val) c.276+16402G>A (n.276+16402G>A) c.*220+6142C>T (n.*220+6142C>T) c.758C>T (p.Ala253Val) c.785C>T (p.Ala262Val) c.1640C>T (p.Ala547Val) c.1454C>T (p.Ala485Val) c.1373C>T (p.Ala458Val) c.1079C>T (p.Ala360Val) c.1460C>T (p.Ala487Val) | ClinVar dbSNP gnomAD v4 |
2 | g.48688082G>C | CA346745025 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1715C>G (p.Ala572Gly) c.*27C>G (n.*27C>G) c.3441+16402G>C (n.3441+16402G>C) c.*459C>G (n.*459C>G) c.1634C>G (p.Ala545Gly) c.276+16402G>C (n.276+16402G>C) c.*220+6142C>G (n.*220+6142C>G) c.758C>G (p.Ala253Gly) c.785C>G (p.Ala262Gly) c.1640C>G (p.Ala547Gly) c.1454C>G (p.Ala485Gly) c.1373C>G (p.Ala458Gly) c.1079C>G (p.Ala360Gly) c.1460C>G (p.Ala487Gly) | dbSNP |
2 | g.48688082G= | CA1248600981 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1715C= (p.Ala572=) c.*27C= (n.*27C=) c.3441+16402G= (n.3441+16402G=) c.*459C= (n.*459C=) c.1634C= (p.Ala545=) c.276+16402G= (n.276+16402G=) c.*220+6142C= (n.*220+6142C=) c.758C= (p.Ala253=) c.785C= (p.Ala262=) c.1640C= (p.Ala547=) c.1454C= (p.Ala485=) c.1373C= (p.Ala458=) c.1079C= (p.Ala360=) c.1460C= (p.Ala487=) | |
2 | g.48688082G>T | CA346745023 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1715C>A (p.Ala572Glu) c.*27C>A (n.*27C>A) c.3441+16402G>T (n.3441+16402G>T) c.*459C>A (n.*459C>A) c.1634C>A (p.Ala545Glu) c.276+16402G>T (n.276+16402G>T) c.*220+6142C>A (n.*220+6142C>A) c.758C>A (p.Ala253Glu) c.785C>A (p.Ala262Glu) c.1640C>A (p.Ala547Glu) c.1454C>A (p.Ala485Glu) c.1373C>A (p.Ala458Glu) c.1079C>A (p.Ala360Glu) c.1460C>A (p.Ala487Glu) | |
2 | g.48688083C>A | CA346745026 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1714G>T (p.Ala572Ser) c.*26G>T (n.*26G>T) c.3441+16403C>A (n.3441+16403C>A) c.*458G>T (n.*458G>T) c.1633G>T (p.Ala545Ser) c.276+16403C>A (n.276+16403C>A) c.*220+6141G>T (n.*220+6141G>T) c.757G>T (p.Ala253Ser) c.784G>T (p.Ala262Ser) c.1639G>T (p.Ala547Ser) c.1453G>T (p.Ala485Ser) c.1372G>T (p.Ala458Ser) c.1078G>T (p.Ala360Ser) c.1459G>T (p.Ala487Ser) | |
2 | g.48688083C>G | CA346745027 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1714G>C (p.Ala572Pro) c.*26G>C (n.*26G>C) c.3441+16403C>G (n.3441+16403C>G) c.*458G>C (n.*458G>C) c.1633G>C (p.Ala545Pro) c.276+16403C>G (n.276+16403C>G) c.*220+6141G>C (n.*220+6141G>C) c.757G>C (p.Ala253Pro) c.784G>C (p.Ala262Pro) c.1639G>C (p.Ala547Pro) c.1453G>C (p.Ala485Pro) c.1372G>C (p.Ala458Pro) c.1078G>C (p.Ala360Pro) c.1459G>C (p.Ala487Pro) | |
2 | g.48688083C>T | CA346745028 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1714G>A (p.Ala572Thr) c.*26G>A (n.*26G>A) c.3441+16403C>T (n.3441+16403C>T) c.*458G>A (n.*458G>A) c.1633G>A (p.Ala545Thr) c.276+16403C>T (n.276+16403C>T) c.*220+6141G>A (n.*220+6141G>A) c.757G>A (p.Ala253Thr) c.784G>A (p.Ala262Thr) c.1639G>A (p.Ala547Thr) c.1453G>A (p.Ala485Thr) c.1372G>A (p.Ala458Thr) c.1078G>A (p.Ala360Thr) c.1459G>A (p.Ala487Thr) | |
2 | g.48688084C>A | CA346745029 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1713G>T (p.Met571Ile) c.*25G>T (n.*25G>T) c.3441+16404C>A (n.3441+16404C>A) c.*457G>T (n.*457G>T) c.1632G>T (p.Met544Ile) c.276+16404C>A (n.276+16404C>A) c.*220+6140G>T (n.*220+6140G>T) c.756G>T (p.Met252Ile) c.783G>T (p.Met261Ile) c.1638G>T (p.Met546Ile) c.1452G>T (p.Met484Ile) c.1371G>T (p.Met457Ile) c.1077G>T (p.Met359Ile) c.1458G>T (p.Met486Ile) | ClinVar dbSNP |
2 | g.48688084C= | CA1248600982 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1713G= (p.Met571=) c.*25G= (n.*25G=) c.3441+16404C= (n.3441+16404C=) c.*457G= (n.*457G=) c.1632G= (p.Met544=) c.276+16404C= (n.276+16404C=) c.*220+6140G= (n.*220+6140G=) c.756G= (p.Met252=) c.783G= (p.Met261=) c.1638G= (p.Met546=) c.1452G= (p.Met484=) c.1371G= (p.Met457=) c.1077G= (p.Met359=) c.1458G= (p.Met486=) | |
2 | g.48688084C>G | CA346745030 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1713G>C (p.Met571Ile) c.*25G>C (n.*25G>C) c.3441+16404C>G (n.3441+16404C>G) c.*457G>C (n.*457G>C) c.1632G>C (p.Met544Ile) c.276+16404C>G (n.276+16404C>G) c.*220+6140G>C (n.*220+6140G>C) c.756G>C (p.Met252Ile) c.783G>C (p.Met261Ile) c.1638G>C (p.Met546Ile) c.1452G>C (p.Met484Ile) c.1371G>C (p.Met457Ile) c.1077G>C (p.Met359Ile) c.1458G>C (p.Met486Ile) | |
2 | g.48688084C>T | CA123917 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1713G>A (p.Met571Ile) c.*25G>A (n.*25G>A) c.3441+16404C>T (n.3441+16404C>T) c.*457G>A (n.*457G>A) c.1632G>A (p.Met544Ile) c.276+16404C>T (n.276+16404C>T) c.*220+6140G>A (n.*220+6140G>A) c.756G>A (p.Met252Ile) c.783G>A (p.Met261Ile) c.1638G>A (p.Met546Ile) c.1452G>A (p.Met484Ile) c.1371G>A (p.Met457Ile) c.1077G>A (p.Met359Ile) c.1458G>A (p.Met486Ile) | ClinVar dbSNP |
2 | g.48688085A= | CA1248600983 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1712T= (p.Met571=) c.*24T= (n.*24T=) c.3441+16405A= (n.3441+16405A=) c.*456T= (n.*456T=) c.1631T= (p.Met544=) c.276+16405A= (n.276+16405A=) c.*220+6139T= (n.*220+6139T=) c.755T= (p.Met252=) c.782T= (p.Met261=) c.1637T= (p.Met546=) c.1451T= (p.Met484=) c.1370T= (p.Met457=) c.1076T= (p.Met359=) c.1457T= (p.Met486=) | |
2 | g.48688085A>C | CA346745037 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1712T>G (p.Met571Arg) c.*24T>G (n.*24T>G) c.3441+16405A>C (n.3441+16405A>C) c.*456T>G (n.*456T>G) c.1631T>G (p.Met544Arg) c.276+16405A>C (n.276+16405A>C) c.*220+6139T>G (n.*220+6139T>G) c.755T>G (p.Met252Arg) c.782T>G (p.Met261Arg) c.1637T>G (p.Met546Arg) c.1451T>G (p.Met484Arg) c.1370T>G (p.Met457Arg) c.1076T>G (p.Met359Arg) c.1457T>G (p.Met486Arg) | |
2 | g.48688085A>G | CA346745032 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1712T>C (p.Met571Thr) c.*24T>C (n.*24T>C) c.3441+16405A>G (n.3441+16405A>G) c.*456T>C (n.*456T>C) c.1631T>C (p.Met544Thr) c.276+16405A>G (n.276+16405A>G) c.*220+6139T>C (n.*220+6139T>C) c.755T>C (p.Met252Thr) c.782T>C (p.Met261Thr) c.1637T>C (p.Met546Thr) c.1451T>C (p.Met484Thr) c.1370T>C (p.Met457Thr) c.1076T>C (p.Met359Thr) c.1457T>C (p.Met486Thr) | dbSNP gnomAD v4 COSMIC |
2 | g.48688085A>T | CA346745033 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1712T>A (p.Met571Lys) c.*24T>A (n.*24T>A) c.3441+16405A>T (n.3441+16405A>T) c.*456T>A (n.*456T>A) c.1631T>A (p.Met544Lys) c.276+16405A>T (n.276+16405A>T) c.*220+6139T>A (n.*220+6139T>A) c.755T>A (p.Met252Lys) c.782T>A (p.Met261Lys) c.1637T>A (p.Met546Lys) c.1451T>A (p.Met484Lys) c.1370T>A (p.Met457Lys) c.1076T>A (p.Met359Lys) c.1457T>A (p.Met486Lys) | |
2 | g.48688086T>A | CA346745039 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1711A>T (p.Met571Leu) c.*23A>T (n.*23A>T) c.3441+16406T>A (n.3441+16406T>A) c.*455A>T (n.*455A>T) c.1630A>T (p.Met544Leu) c.276+16406T>A (n.276+16406T>A) c.*220+6138A>T (n.*220+6138A>T) c.754A>T (p.Met252Leu) c.781A>T (p.Met261Leu) c.1636A>T (p.Met546Leu) c.1450A>T (p.Met484Leu) c.1369A>T (p.Met457Leu) c.1075A>T (p.Met359Leu) c.1456A>T (p.Met486Leu) | |
2 | g.48688086T>C | CA346745040 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1711A>G (p.Met571Val) c.*23A>G (n.*23A>G) c.3441+16406T>C (n.3441+16406T>C) c.*455A>G (n.*455A>G) c.1630A>G (p.Met544Val) c.276+16406T>C (n.276+16406T>C) c.*220+6138A>G (n.*220+6138A>G) c.754A>G (p.Met252Val) c.781A>G (p.Met261Val) c.1636A>G (p.Met546Val) c.1450A>G (p.Met484Val) c.1369A>G (p.Met457Val) c.1075A>G (p.Met359Val) c.1456A>G (p.Met486Val) | |
2 | g.48688086T>G | CA346745044 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1711A>C (p.Met571Leu) c.*23A>C (n.*23A>C) c.3441+16406T>G (n.3441+16406T>G) c.*455A>C (n.*455A>C) c.1630A>C (p.Met544Leu) c.276+16406T>G (n.276+16406T>G) c.*220+6138A>C (n.*220+6138A>C) c.754A>C (p.Met252Leu) c.781A>C (p.Met261Leu) c.1636A>C (p.Met546Leu) c.1450A>C (p.Met484Leu) c.1369A>C (p.Met457Leu) c.1075A>C (p.Met359Leu) c.1456A>C (p.Met486Leu) | |
2 | g.48688089del | CA2658992081 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1711del (p.Met571TrpfsTer?) c.*23del (n.*23del) c.3441+16409del (n.3441+16409del) c.*455del (n.*455del) c.1630del (p.Met544TrpfsTer?) c.276+16409del (n.276+16409del) c.*220+6138del (n.*220+6138del) c.754del (p.Met252TrpfsTer?) c.781del (p.Met261TrpfsTer?) c.1636del (p.Met546TrpfsTer?) c.1450del (p.Met484TrpfsTer?) c.1369del (p.Met457TrpfsTer?) c.1075del (p.Met359TrpfsTer?) c.1456del (p.Met486TrpfsTer?) | gnomAD v4 |
2 | g.48688087T>A | CA346745049 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1710A>T (p.Lys570Asn) c.*22A>T (n.*22A>T) c.3441+16407T>A (n.3441+16407T>A) c.*454A>T (n.*454A>T) c.1629A>T (p.Lys543Asn) c.276+16407T>A (n.276+16407T>A) c.*220+6137A>T (n.*220+6137A>T) c.753A>T (p.Lys251Asn) c.780A>T (p.Lys260Asn) c.1635A>T (p.Lys545Asn) c.1449A>T (p.Lys483Asn) c.1368A>T (p.Lys456Asn) c.1074A>T (p.Lys358Asn) c.1455A>T (p.Lys485Asn) | gnomAD v4 |
2 | g.48688087T>C | CA426124953 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1710A>G (p.Lys570=) c.*22A>G (n.*22A>G) c.3441+16407T>C (n.3441+16407T>C) c.*454A>G (n.*454A>G) c.1629A>G (p.Lys543=) c.276+16407T>C (n.276+16407T>C) c.*220+6137A>G (n.*220+6137A>G) c.753A>G (p.Lys251=) c.780A>G (p.Lys260=) c.1635A>G (p.Lys545=) c.1449A>G (p.Lys483=) c.1368A>G (p.Lys456=) c.1074A>G (p.Lys358=) c.1455A>G (p.Lys485=) | |
2 | g.48688087T>G | CA346745051 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1710A>C (p.Lys570Asn) c.*22A>C (n.*22A>C) c.3441+16407T>G (n.3441+16407T>G) c.*454A>C (n.*454A>C) c.1629A>C (p.Lys543Asn) c.276+16407T>G (n.276+16407T>G) c.*220+6137A>C (n.*220+6137A>C) c.753A>C (p.Lys251Asn) c.780A>C (p.Lys260Asn) c.1635A>C (p.Lys545Asn) c.1449A>C (p.Lys483Asn) c.1368A>C (p.Lys456Asn) c.1074A>C (p.Lys358Asn) c.1455A>C (p.Lys485Asn) | |
2 | g.48688088T>A | CA346745052 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1709A>T (p.Lys570Ile) c.*21A>T (n.*21A>T) c.3441+16408T>A (n.3441+16408T>A) c.*453A>T (n.*453A>T) c.1628A>T (p.Lys543Ile) c.276+16408T>A (n.276+16408T>A) c.*220+6136A>T (n.*220+6136A>T) c.752A>T (p.Lys251Ile) c.779A>T (p.Lys260Ile) c.1634A>T (p.Lys545Ile) c.1448A>T (p.Lys483Ile) c.1367A>T (p.Lys456Ile) c.1073A>T (p.Lys358Ile) c.1454A>T (p.Lys485Ile) | |
2 | g.48688088T>C | CA346745056 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1709A>G (p.Lys570Arg) c.*21A>G (n.*21A>G) c.3441+16408T>C (n.3441+16408T>C) c.*453A>G (n.*453A>G) c.1628A>G (p.Lys543Arg) c.276+16408T>C (n.276+16408T>C) c.*220+6136A>G (n.*220+6136A>G) c.752A>G (p.Lys251Arg) c.779A>G (p.Lys260Arg) c.1634A>G (p.Lys545Arg) c.1448A>G (p.Lys483Arg) c.1367A>G (p.Lys456Arg) c.1073A>G (p.Lys358Arg) c.1454A>G (p.Lys485Arg) | |
2 | g.48688088T>G | CA346745054 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1709A>C (p.Lys570Thr) c.*21A>C (n.*21A>C) c.3441+16408T>G (n.3441+16408T>G) c.*453A>C (n.*453A>C) c.1628A>C (p.Lys543Thr) c.276+16408T>G (n.276+16408T>G) c.*220+6136A>C (n.*220+6136A>C) c.752A>C (p.Lys251Thr) c.779A>C (p.Lys260Thr) c.1634A>C (p.Lys545Thr) c.1448A>C (p.Lys483Thr) c.1367A>C (p.Lys456Thr) c.1073A>C (p.Lys358Thr) c.1454A>C (p.Lys485Thr) | |
2 | g.48688089T>A | CA346745057 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1708A>T (p.Lys570Ter) c.*20A>T (n.*20A>T) c.3441+16409T>A (n.3441+16409T>A) c.*452A>T (n.*452A>T) c.1627A>T (p.Lys543Ter) c.276+16409T>A (n.276+16409T>A) c.*220+6135A>T (n.*220+6135A>T) c.751A>T (p.Lys251Ter) c.778A>T (p.Lys260Ter) c.1633A>T (p.Lys545Ter) c.1447A>T (p.Lys483Ter) c.1366A>T (p.Lys456Ter) c.1072A>T (p.Lys358Ter) c.1453A>T (p.Lys485Ter) | dbSNP |
2 | g.48688089T>C | CA346745059 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1708A>G (p.Lys570Glu) c.*20A>G (n.*20A>G) c.3441+16409T>C (n.3441+16409T>C) c.*452A>G (n.*452A>G) c.1627A>G (p.Lys543Glu) c.276+16409T>C (n.276+16409T>C) c.*220+6135A>G (n.*220+6135A>G) c.751A>G (p.Lys251Glu) c.778A>G (p.Lys260Glu) c.1633A>G (p.Lys545Glu) c.1447A>G (p.Lys483Glu) c.1366A>G (p.Lys456Glu) c.1072A>G (p.Lys358Glu) c.1453A>G (p.Lys485Glu) | |
2 | g.48688089T>G | CA346745065 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1708A>C (p.Lys570Gln) c.*20A>C (n.*20A>C) c.3441+16409T>G (n.3441+16409T>G) c.*452A>C (n.*452A>C) c.1627A>C (p.Lys543Gln) c.276+16409T>G (n.276+16409T>G) c.*220+6135A>C (n.*220+6135A>C) c.751A>C (p.Lys251Gln) c.778A>C (p.Lys260Gln) c.1633A>C (p.Lys545Gln) c.1447A>C (p.Lys483Gln) c.1366A>C (p.Lys456Gln) c.1072A>C (p.Lys358Gln) c.1453A>C (p.Lys485Gln) | gnomAD v4 |
2 | g.48688089T= | CA1248600984 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1708A= (p.Lys570=) c.*20A= (n.*20A=) c.3441+16409T= (n.3441+16409T=) c.*452A= (n.*452A=) c.1627A= (p.Lys543=) c.276+16409T= (n.276+16409T=) c.*220+6135A= (n.*220+6135A=) c.751A= (p.Lys251=) c.778A= (p.Lys260=) c.1633A= (p.Lys545=) c.1447A= (p.Lys483=) c.1366A= (p.Lys456=) c.1072A= (p.Lys358=) c.1453A= (p.Lys485=) | |
2 | g.48688090C>A | CA346745068 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1707G>T (p.Lys569Asn) c.*19G>T (n.*19G>T) c.3441+16410C>A (n.3441+16410C>A) c.*451G>T (n.*451G>T) c.1626G>T (p.Lys542Asn) c.276+16410C>A (n.276+16410C>A) c.*220+6134G>T (n.*220+6134G>T) c.750G>T (p.Lys250Asn) c.777G>T (p.Lys259Asn) c.1632G>T (p.Lys544Asn) c.1446G>T (p.Lys482Asn) c.1365G>T (p.Lys455Asn) c.1071G>T (p.Lys357Asn) c.1452G>T (p.Lys484Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688090C= | CA1248600985 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1707G= (p.Lys569=) c.*19G= (n.*19G=) c.3441+16410C= (n.3441+16410C=) c.*451G= (n.*451G=) c.1626G= (p.Lys542=) c.276+16410C= (n.276+16410C=) c.*220+6134G= (n.*220+6134G=) c.750G= (p.Lys250=) c.777G= (p.Lys259=) c.1632G= (p.Lys544=) c.1446G= (p.Lys482=) c.1365G= (p.Lys455=) c.1071G= (p.Lys357=) c.1452G= (p.Lys484=) | |
2 | g.48688090C>G | CA346745082 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1707G>C (p.Lys569Asn) c.*19G>C (n.*19G>C) c.3441+16410C>G (n.3441+16410C>G) c.*451G>C (n.*451G>C) c.1626G>C (p.Lys542Asn) c.276+16410C>G (n.276+16410C>G) c.*220+6134G>C (n.*220+6134G>C) c.750G>C (p.Lys250Asn) c.777G>C (p.Lys259Asn) c.1632G>C (p.Lys544Asn) c.1446G>C (p.Lys482Asn) c.1365G>C (p.Lys455Asn) c.1071G>C (p.Lys357Asn) c.1452G>C (p.Lys484Asn) | |
2 | g.48688090C>T | CA426124958 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1707G>A (p.Lys569=) c.*19G>A (n.*19G>A) c.3441+16410C>T (n.3441+16410C>T) c.*451G>A (n.*451G>A) c.1626G>A (p.Lys542=) c.276+16410C>T (n.276+16410C>T) c.*220+6134G>A (n.*220+6134G>A) c.750G>A (p.Lys250=) c.777G>A (p.Lys259=) c.1632G>A (p.Lys544=) c.1446G>A (p.Lys482=) c.1365G>A (p.Lys455=) c.1071G>A (p.Lys357=) c.1452G>A (p.Lys484=) | |
2 | g.48688091T>A | CA346745086 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1706A>T (p.Lys569Met) c.*18A>T (n.*18A>T) c.3441+16411T>A (n.3441+16411T>A) c.*450A>T (n.*450A>T) c.1625A>T (p.Lys542Met) c.276+16411T>A (n.276+16411T>A) c.*220+6133A>T (n.*220+6133A>T) c.749A>T (p.Lys250Met) c.776A>T (p.Lys259Met) c.1631A>T (p.Lys544Met) c.1445A>T (p.Lys482Met) c.1364A>T (p.Lys455Met) c.1070A>T (p.Lys357Met) c.1451A>T (p.Lys484Met) | |
2 | g.48688091T>C | CA346745087 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1706A>G (p.Lys569Arg) c.*18A>G (n.*18A>G) c.3441+16411T>C (n.3441+16411T>C) c.*450A>G (n.*450A>G) c.1625A>G (p.Lys542Arg) c.276+16411T>C (n.276+16411T>C) c.*220+6133A>G (n.*220+6133A>G) c.749A>G (p.Lys250Arg) c.776A>G (p.Lys259Arg) c.1631A>G (p.Lys544Arg) c.1445A>G (p.Lys482Arg) c.1364A>G (p.Lys455Arg) c.1070A>G (p.Lys357Arg) c.1451A>G (p.Lys484Arg) | gnomAD v4 |
2 | g.48688091T>G | CA346745089 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1706A>C (p.Lys569Thr) c.*18A>C (n.*18A>C) c.3441+16411T>G (n.3441+16411T>G) c.*450A>C (n.*450A>C) c.1625A>C (p.Lys542Thr) c.276+16411T>G (n.276+16411T>G) c.*220+6133A>C (n.*220+6133A>C) c.749A>C (p.Lys250Thr) c.776A>C (p.Lys259Thr) c.1631A>C (p.Lys544Thr) c.1445A>C (p.Lys482Thr) c.1364A>C (p.Lys455Thr) c.1070A>C (p.Lys357Thr) c.1451A>C (p.Lys484Thr) | |
2 | g.48688092T>A | CA346745091 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1705A>T (p.Lys569Ter) c.*17A>T (n.*17A>T) c.3441+16412T>A (n.3441+16412T>A) c.*449A>T (n.*449A>T) c.1624A>T (p.Lys542Ter) c.276+16412T>A (n.276+16412T>A) c.*220+6132A>T (n.*220+6132A>T) c.748A>T (p.Lys250Ter) c.775A>T (p.Lys259Ter) c.1630A>T (p.Lys544Ter) c.1444A>T (p.Lys482Ter) c.1363A>T (p.Lys455Ter) c.1069A>T (p.Lys357Ter) c.1450A>T (p.Lys484Ter) | |
2 | g.48688092T>C | CA346745092 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1705A>G (p.Lys569Glu) c.*17A>G (n.*17A>G) c.3441+16412T>C (n.3441+16412T>C) c.*449A>G (n.*449A>G) c.1624A>G (p.Lys542Glu) c.276+16412T>C (n.276+16412T>C) c.*220+6132A>G (n.*220+6132A>G) c.748A>G (p.Lys250Glu) c.775A>G (p.Lys259Glu) c.1630A>G (p.Lys544Glu) c.1444A>G (p.Lys482Glu) c.1363A>G (p.Lys455Glu) c.1069A>G (p.Lys357Glu) c.1450A>G (p.Lys484Glu) | |
2 | g.48688092T>G | CA346745095 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1705A>C (p.Lys569Gln) c.*17A>C (n.*17A>C) c.3441+16412T>G (n.3441+16412T>G) c.*449A>C (n.*449A>C) c.1624A>C (p.Lys542Gln) c.276+16412T>G (n.276+16412T>G) c.*220+6132A>C (n.*220+6132A>C) c.748A>C (p.Lys250Gln) c.775A>C (p.Lys259Gln) c.1630A>C (p.Lys544Gln) c.1444A>C (p.Lys482Gln) c.1363A>C (p.Lys455Gln) c.1069A>C (p.Lys357Gln) c.1450A>C (p.Lys484Gln) | |
2 | g.48688093A= | CA1248600986 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1704T= (p.Ala568=) c.*16T= (n.*16T=) c.3441+16413A= (n.3441+16413A=) c.*448T= (n.*448T=) c.1623T= (p.Ala541=) c.276+16413A= (n.276+16413A=) c.*220+6131T= (n.*220+6131T=) c.747T= (p.Ala249=) c.774T= (p.Ala258=) c.1629T= (p.Ala543=) c.1443T= (p.Ala481=) c.1362T= (p.Ala454=) c.1068T= (p.Ala356=) c.1449T= (p.Ala483=) | |
2 | g.48688093A>C | CA426124960 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1704T>G (p.Ala568=) c.*16T>G (n.*16T>G) c.3441+16413A>C (n.3441+16413A>C) c.*448T>G (n.*448T>G) c.1623T>G (p.Ala541=) c.276+16413A>C (n.276+16413A>C) c.*220+6131T>G (n.*220+6131T>G) c.747T>G (p.Ala249=) c.774T>G (p.Ala258=) c.1629T>G (p.Ala543=) c.1443T>G (p.Ala481=) c.1362T>G (p.Ala454=) c.1068T>G (p.Ala356=) c.1449T>G (p.Ala483=) | |
2 | g.48688093A>G | CA426124961 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1704T>C (p.Ala568=) c.*16T>C (n.*16T>C) c.3441+16413A>G (n.3441+16413A>G) c.*448T>C (n.*448T>C) c.1623T>C (p.Ala541=) c.276+16413A>G (n.276+16413A>G) c.*220+6131T>C (n.*220+6131T>C) c.747T>C (p.Ala249=) c.774T>C (p.Ala258=) c.1629T>C (p.Ala543=) c.1443T>C (p.Ala481=) c.1362T>C (p.Ala454=) c.1068T>C (p.Ala356=) c.1449T>C (p.Ala483=) | |
2 | g.48688093A>T | CA426124962 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1704T>A (p.Ala568=) c.*16T>A (n.*16T>A) c.3441+16413A>T (n.3441+16413A>T) c.*448T>A (n.*448T>A) c.1623T>A (p.Ala541=) c.276+16413A>T (n.276+16413A>T) c.*220+6131T>A (n.*220+6131T>A) c.747T>A (p.Ala249=) c.774T>A (p.Ala258=) c.1629T>A (p.Ala543=) c.1443T>A (p.Ala481=) c.1362T>A (p.Ala454=) c.1068T>A (p.Ala356=) c.1449T>A (p.Ala483=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688094G>A | CA123933 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1703C>T (p.Ala568Val) c.*15C>T (n.*15C>T) c.3441+16414G>A (n.3441+16414G>A) c.*447C>T (n.*447C>T) c.1622C>T (p.Ala541Val) c.276+16414G>A (n.276+16414G>A) c.*220+6130C>T (n.*220+6130C>T) c.746C>T (p.Ala249Val) c.773C>T (p.Ala258Val) c.1628C>T (p.Ala543Val) c.1442C>T (p.Ala481Val) c.1361C>T (p.Ala454Val) c.1067C>T (p.Ala356Val) c.1448C>T (p.Ala483Val) | ClinVar dbSNP |
2 | g.48688094G>C | CA346745111 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1703C>G (p.Ala568Gly) c.*15C>G (n.*15C>G) c.3441+16414G>C (n.3441+16414G>C) c.*447C>G (n.*447C>G) c.1622C>G (p.Ala541Gly) c.276+16414G>C (n.276+16414G>C) c.*220+6130C>G (n.*220+6130C>G) c.746C>G (p.Ala249Gly) c.773C>G (p.Ala258Gly) c.1628C>G (p.Ala543Gly) c.1442C>G (p.Ala481Gly) c.1361C>G (p.Ala454Gly) c.1067C>G (p.Ala356Gly) c.1448C>G (p.Ala483Gly) | |
2 | g.48688094G= | CA1248600987 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1703C= (p.Ala568=) c.*15C= (n.*15C=) c.3441+16414G= (n.3441+16414G=) c.*447C= (n.*447C=) c.1622C= (p.Ala541=) c.276+16414G= (n.276+16414G=) c.*220+6130C= (n.*220+6130C=) c.746C= (p.Ala249=) c.773C= (p.Ala258=) c.1628C= (p.Ala543=) c.1442C= (p.Ala481=) c.1361C= (p.Ala454=) c.1067C= (p.Ala356=) c.1448C= (p.Ala483=) | |
2 | g.48688094G>T | CA346745104 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1703C>A (p.Ala568Asp) c.*15C>A (n.*15C>A) c.3441+16414G>T (n.3441+16414G>T) c.*447C>A (n.*447C>A) c.1622C>A (p.Ala541Asp) c.276+16414G>T (n.276+16414G>T) c.*220+6130C>A (n.*220+6130C>A) c.746C>A (p.Ala249Asp) c.773C>A (p.Ala258Asp) c.1628C>A (p.Ala543Asp) c.1442C>A (p.Ala481Asp) c.1361C>A (p.Ala454Asp) c.1067C>A (p.Ala356Asp) c.1448C>A (p.Ala483Asp) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688095C>A | CA346745114 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1702G>T (p.Ala568Ser) c.*14G>T (n.*14G>T) c.3441+16415C>A (n.3441+16415C>A) c.*446G>T (n.*446G>T) c.1621G>T (p.Ala541Ser) c.276+16415C>A (n.276+16415C>A) c.*220+6129G>T (n.*220+6129G>T) c.745G>T (p.Ala249Ser) c.772G>T (p.Ala258Ser) c.1627G>T (p.Ala543Ser) c.1441G>T (p.Ala481Ser) c.1360G>T (p.Ala454Ser) c.1066G>T (p.Ala356Ser) c.1447G>T (p.Ala483Ser) | |
2 | g.48688095C>G | CA346745118 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1702G>C (p.Ala568Pro) c.*14G>C (n.*14G>C) c.3441+16415C>G (n.3441+16415C>G) c.*446G>C (n.*446G>C) c.1621G>C (p.Ala541Pro) c.276+16415C>G (n.276+16415C>G) c.*220+6129G>C (n.*220+6129G>C) c.745G>C (p.Ala249Pro) c.772G>C (p.Ala258Pro) c.1627G>C (p.Ala543Pro) c.1441G>C (p.Ala481Pro) c.1360G>C (p.Ala454Pro) c.1066G>C (p.Ala356Pro) c.1447G>C (p.Ala483Pro) | |
2 | g.48688095C>T | CA346745121 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1702G>A (p.Ala568Thr) c.*14G>A (n.*14G>A) c.3441+16415C>T (n.3441+16415C>T) c.*446G>A (n.*446G>A) c.1621G>A (p.Ala541Thr) c.276+16415C>T (n.276+16415C>T) c.*220+6129G>A (n.*220+6129G>A) c.745G>A (p.Ala249Thr) c.772G>A (p.Ala258Thr) c.1627G>A (p.Ala543Thr) c.1441G>A (p.Ala481Thr) c.1360G>A (p.Ala454Thr) c.1066G>A (p.Ala356Thr) c.1447G>A (p.Ala483Thr) | |
2 | g.48688096A= | CA1248600988 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1701T= (p.Ile567=) c.*13T= (n.*13T=) c.3441+16416A= (n.3441+16416A=) c.*445T= (n.*445T=) c.1620T= (p.Ile540=) c.276+16416A= (n.276+16416A=) c.*220+6128T= (n.*220+6128T=) c.744T= (p.Ile248=) c.771T= (p.Ile257=) c.1626T= (p.Ile542=) c.1440T= (p.Ile480=) c.1359T= (p.Ile453=) c.1065T= (p.Ile355=) c.1446T= (p.Ile482=) | |
2 | g.48688096A>C | CA346745124 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1701T>G (p.Ile567Met) c.*13T>G (n.*13T>G) c.3441+16416A>C (n.3441+16416A>C) c.*445T>G (n.*445T>G) c.1620T>G (p.Ile540Met) c.276+16416A>C (n.276+16416A>C) c.*220+6128T>G (n.*220+6128T>G) c.744T>G (p.Ile248Met) c.771T>G (p.Ile257Met) c.1626T>G (p.Ile542Met) c.1440T>G (p.Ile480Met) c.1359T>G (p.Ile453Met) c.1065T>G (p.Ile355Met) c.1446T>G (p.Ile482Met) | gnomAD v4 |
2 | g.48688096A>G | CA426124965 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1701T>C (p.Ile567=) c.*13T>C (n.*13T>C) c.3441+16416A>G (n.3441+16416A>G) c.*445T>C (n.*445T>C) c.1620T>C (p.Ile540=) c.276+16416A>G (n.276+16416A>G) c.*220+6128T>C (n.*220+6128T>C) c.744T>C (p.Ile248=) c.771T>C (p.Ile257=) c.1626T>C (p.Ile542=) c.1440T>C (p.Ile480=) c.1359T>C (p.Ile453=) c.1065T>C (p.Ile355=) c.1446T>C (p.Ile482=) | |
2 | g.48688096A>T | CA46752825 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1701T>A (p.Ile567=) c.*13T>A (n.*13T>A) c.3441+16416A>T (n.3441+16416A>T) c.*445T>A (n.*445T>A) c.1620T>A (p.Ile540=) c.276+16416A>T (n.276+16416A>T) c.*220+6128T>A (n.*220+6128T>A) c.744T>A (p.Ile248=) c.771T>A (p.Ile257=) c.1626T>A (p.Ile542=) c.1440T>A (p.Ile480=) c.1359T>A (p.Ile453=) c.1065T>A (p.Ile355=) c.1446T>A (p.Ile482=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688097A>C | CA346745131 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1700T>G (p.Ile567Ser) c.*12T>G (n.*12T>G) c.3441+16417A>C (n.3441+16417A>C) c.*444T>G (n.*444T>G) c.1619T>G (p.Ile540Ser) c.276+16417A>C (n.276+16417A>C) c.*220+6127T>G (n.*220+6127T>G) c.743T>G (p.Ile248Ser) c.770T>G (p.Ile257Ser) c.1625T>G (p.Ile542Ser) c.1439T>G (p.Ile480Ser) c.1358T>G (p.Ile453Ser) c.1064T>G (p.Ile355Ser) c.1445T>G (p.Ile482Ser) | |
2 | g.48688097A>G | CA346745134 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1700T>C (p.Ile567Thr) c.*12T>C (n.*12T>C) c.3441+16417A>G (n.3441+16417A>G) c.*444T>C (n.*444T>C) c.1619T>C (p.Ile540Thr) c.276+16417A>G (n.276+16417A>G) c.*220+6127T>C (n.*220+6127T>C) c.743T>C (p.Ile248Thr) c.770T>C (p.Ile257Thr) c.1625T>C (p.Ile542Thr) c.1439T>C (p.Ile480Thr) c.1358T>C (p.Ile453Thr) c.1064T>C (p.Ile355Thr) c.1445T>C (p.Ile482Thr) | |
2 | g.48688097A>T | CA346745136 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1700T>A (p.Ile567Asn) c.*12T>A (n.*12T>A) c.3441+16417A>T (n.3441+16417A>T) c.*444T>A (n.*444T>A) c.1619T>A (p.Ile540Asn) c.276+16417A>T (n.276+16417A>T) c.*220+6127T>A (n.*220+6127T>A) c.743T>A (p.Ile248Asn) c.770T>A (p.Ile257Asn) c.1625T>A (p.Ile542Asn) c.1439T>A (p.Ile480Asn) c.1358T>A (p.Ile453Asn) c.1064T>A (p.Ile355Asn) c.1445T>A (p.Ile482Asn) | |
2 | g.48688098T>A | CA346745141 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1699A>T (p.Ile567Phe) c.*11A>T (n.*11A>T) c.3441+16418T>A (n.3441+16418T>A) c.*443A>T (n.*443A>T) c.1618A>T (p.Ile540Phe) c.276+16418T>A (n.276+16418T>A) c.*220+6126A>T (n.*220+6126A>T) c.742A>T (p.Ile248Phe) c.769A>T (p.Ile257Phe) c.1624A>T (p.Ile542Phe) c.1438A>T (p.Ile480Phe) c.1357A>T (p.Ile453Phe) c.1063A>T (p.Ile355Phe) c.1444A>T (p.Ile482Phe) | gnomAD v4 |
2 | g.48688098T>C | CA346745144 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1699A>G (p.Ile567Val) c.*11A>G (n.*11A>G) c.3441+16418T>C (n.3441+16418T>C) c.*443A>G (n.*443A>G) c.1618A>G (p.Ile540Val) c.276+16418T>C (n.276+16418T>C) c.*220+6126A>G (n.*220+6126A>G) c.742A>G (p.Ile248Val) c.769A>G (p.Ile257Val) c.1624A>G (p.Ile542Val) c.1438A>G (p.Ile480Val) c.1357A>G (p.Ile453Val) c.1063A>G (p.Ile355Val) c.1444A>G (p.Ile482Val) | dbSNP |
2 | g.48688098T>G | CA346745149 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1699A>C (p.Ile567Leu) c.*11A>C (n.*11A>C) c.3441+16418T>G (n.3441+16418T>G) c.*443A>C (n.*443A>C) c.1618A>C (p.Ile540Leu) c.276+16418T>G (n.276+16418T>G) c.*220+6126A>C (n.*220+6126A>C) c.742A>C (p.Ile248Leu) c.769A>C (p.Ile257Leu) c.1624A>C (p.Ile542Leu) c.1438A>C (p.Ile480Leu) c.1357A>C (p.Ile453Leu) c.1063A>C (p.Ile355Leu) c.1444A>C (p.Ile482Leu) | |
2 | g.48688098T= | CA1248600990 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1699A= (p.Ile567=) c.*11A= (n.*11A=) c.3441+16418T= (n.3441+16418T=) c.*443A= (n.*443A=) c.1618A= (p.Ile540=) c.276+16418T= (n.276+16418T=) c.*220+6126A= (n.*220+6126A=) c.742A= (p.Ile248=) c.769A= (p.Ile257=) c.1624A= (p.Ile542=) c.1438A= (p.Ile480=) c.1357A= (p.Ile453=) c.1063A= (p.Ile355=) c.1444A= (p.Ile482=) | |
2 | g.48688098_48688099delinsTC | CA1248600989 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1698_1699delinsGA (p.Lys566=) c.*10_*11delinsGA (n.*10_*11delinsGA) c.3441+16418_3441+16419delinsTC (n.3441+16418_3441+16419delinsTC) c.*442_*443delinsGA (n.*442_*443delinsGA) c.1617_1618delinsGA (p.Lys539=) c.276+16418_276+16419delinsTC (n.276+16418_276+16419delinsTC) c.*220+6125_*220+6126delinsGA (n.*220+6125_*220+6126delinsGA) c.741_742delinsGA (p.Lys247=) c.768_769delinsGA (p.Lys256=) c.1623_1624delinsGA (p.Lys541=) c.1437_1438delinsGA (p.Lys479=) c.1356_1357delinsGA (p.Lys452=) c.1062_1063delinsGA (p.Lys354=) c.1443_1444delinsGA (p.Lys481=) | |
2 | g.48688099del | CA532706159 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1698del (p.Ile567LeufsTer?) c.*10del (n.*10del) c.3441+16419del (n.3441+16419del) c.*442del (n.*442del) c.1617del (p.Ile540LeufsTer?) c.276+16419del (n.276+16419del) c.*220+6125del (n.*220+6125del) c.741del (p.Ile248LeufsTer?) c.768del (p.Ile257LeufsTer?) c.1623del (p.Ile542LeufsTer?) c.1437del (p.Ile480LeufsTer?) c.1356del (p.Ile453LeufsTer?) c.1062del (p.Ile355LeufsTer?) c.1443del (p.Ile482LeufsTer?) | dbSNP gnomAD v2 |
2 | g.48688099C>A | CA346745150 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1698G>T (p.Lys566Asn) c.*10G>T (n.*10G>T) c.3441+16419C>A (n.3441+16419C>A) c.*442G>T (n.*442G>T) c.1617G>T (p.Lys539Asn) c.276+16419C>A (n.276+16419C>A) c.*220+6125G>T (n.*220+6125G>T) c.741G>T (p.Lys247Asn) c.768G>T (p.Lys256Asn) c.1623G>T (p.Lys541Asn) c.1437G>T (p.Lys479Asn) c.1356G>T (p.Lys452Asn) c.1062G>T (p.Lys354Asn) c.1443G>T (p.Lys481Asn) | |
2 | g.48688099C= | CA1248600991 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1698G= (p.Lys566=) c.*10G= (n.*10G=) c.3441+16419C= (n.3441+16419C=) c.*442G= (n.*442G=) c.1617G= (p.Lys539=) c.276+16419C= (n.276+16419C=) c.*220+6125G= (n.*220+6125G=) c.741G= (p.Lys247=) c.768G= (p.Lys256=) c.1623G= (p.Lys541=) c.1437G= (p.Lys479=) c.1356G= (p.Lys452=) c.1062G= (p.Lys354=) c.1443G= (p.Lys481=) | |
2 | g.48688099C>G | CA346745153 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1698G>C (p.Lys566Asn) c.*10G>C (n.*10G>C) c.3441+16419C>G (n.3441+16419C>G) c.*442G>C (n.*442G>C) c.1617G>C (p.Lys539Asn) c.276+16419C>G (n.276+16419C>G) c.*220+6125G>C (n.*220+6125G>C) c.741G>C (p.Lys247Asn) c.768G>C (p.Lys256Asn) c.1623G>C (p.Lys541Asn) c.1437G>C (p.Lys479Asn) c.1356G>C (p.Lys452Asn) c.1062G>C (p.Lys354Asn) c.1443G>C (p.Lys481Asn) | |
2 | g.48688099C>T | CA426124969 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1698G>A (p.Lys566=) c.*10G>A (n.*10G>A) c.3441+16419C>T (n.3441+16419C>T) c.*442G>A (n.*442G>A) c.1617G>A (p.Lys539=) c.276+16419C>T (n.276+16419C>T) c.*220+6125G>A (n.*220+6125G>A) c.741G>A (p.Lys247=) c.768G>A (p.Lys256=) c.1623G>A (p.Lys541=) c.1437G>A (p.Lys479=) c.1356G>A (p.Lys452=) c.1062G>A (p.Lys354=) c.1443G>A (p.Lys481=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688100T>A | CA346745158 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1697A>T (p.Lys566Met) c.*9A>T (n.*9A>T) c.3441+16420T>A (n.3441+16420T>A) c.*441A>T (n.*441A>T) c.1616A>T (p.Lys539Met) c.276+16420T>A (n.276+16420T>A) c.*220+6124A>T (n.*220+6124A>T) c.740A>T (p.Lys247Met) c.767A>T (p.Lys256Met) c.1622A>T (p.Lys541Met) c.1436A>T (p.Lys479Met) c.1355A>T (p.Lys452Met) c.1061A>T (p.Lys354Met) c.1442A>T (p.Lys481Met) | |
2 | g.48688100T>C | CA346745166 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1697A>G (p.Lys566Arg) c.*9A>G (n.*9A>G) c.3441+16420T>C (n.3441+16420T>C) c.*441A>G (n.*441A>G) c.1616A>G (p.Lys539Arg) c.276+16420T>C (n.276+16420T>C) c.*220+6124A>G (n.*220+6124A>G) c.740A>G (p.Lys247Arg) c.767A>G (p.Lys256Arg) c.1622A>G (p.Lys541Arg) c.1436A>G (p.Lys479Arg) c.1355A>G (p.Lys452Arg) c.1061A>G (p.Lys354Arg) c.1442A>G (p.Lys481Arg) | |
2 | g.48688100T>G | CA346745161 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1697A>C (p.Lys566Thr) c.*9A>C (n.*9A>C) c.3441+16420T>G (n.3441+16420T>G) c.*441A>C (n.*441A>C) c.1616A>C (p.Lys539Thr) c.276+16420T>G (n.276+16420T>G) c.*220+6124A>C (n.*220+6124A>C) c.740A>C (p.Lys247Thr) c.767A>C (p.Lys256Thr) c.1622A>C (p.Lys541Thr) c.1436A>C (p.Lys479Thr) c.1355A>C (p.Lys452Thr) c.1061A>C (p.Lys354Thr) c.1442A>C (p.Lys481Thr) | |
2 | g.48688101T>A | CA346745168 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1696A>T (p.Lys566Ter) c.*8A>T (n.*8A>T) c.3441+16421T>A (n.3441+16421T>A) c.*440A>T (n.*440A>T) c.1615A>T (p.Lys539Ter) c.276+16421T>A (n.276+16421T>A) c.*220+6123A>T (n.*220+6123A>T) c.739A>T (p.Lys247Ter) c.766A>T (p.Lys256Ter) c.1621A>T (p.Lys541Ter) c.1435A>T (p.Lys479Ter) c.1354A>T (p.Lys452Ter) c.1060A>T (p.Lys354Ter) c.1441A>T (p.Lys481Ter) | |
2 | g.48688101T>C | CA346745169 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1696A>G (p.Lys566Glu) c.*8A>G (n.*8A>G) c.3441+16421T>C (n.3441+16421T>C) c.*440A>G (n.*440A>G) c.1615A>G (p.Lys539Glu) c.276+16421T>C (n.276+16421T>C) c.*220+6123A>G (n.*220+6123A>G) c.739A>G (p.Lys247Glu) c.766A>G (p.Lys256Glu) c.1621A>G (p.Lys541Glu) c.1435A>G (p.Lys479Glu) c.1354A>G (p.Lys452Glu) c.1060A>G (p.Lys354Glu) c.1441A>G (p.Lys481Glu) | |
2 | g.48688101T>G | CA346745170 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1696A>C (p.Lys566Gln) c.*8A>C (n.*8A>C) c.3441+16421T>G (n.3441+16421T>G) c.*440A>C (n.*440A>C) c.1615A>C (p.Lys539Gln) c.276+16421T>G (n.276+16421T>G) c.*220+6123A>C (n.*220+6123A>C) c.739A>C (p.Lys247Gln) c.766A>C (p.Lys256Gln) c.1621A>C (p.Lys541Gln) c.1435A>C (p.Lys479Gln) c.1354A>C (p.Lys452Gln) c.1060A>C (p.Lys354Gln) c.1441A>C (p.Lys481Gln) | |
2 | g.48688102T>A | CA1653001 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1695A>T (p.Thr565=) c.*7A>T (n.*7A>T) c.3441+16422T>A (n.3441+16422T>A) c.*439A>T (n.*439A>T) c.1614A>T (p.Thr538=) c.276+16422T>A (n.276+16422T>A) c.*220+6122A>T (n.*220+6122A>T) c.738A>T (p.Thr246=) c.765A>T (p.Thr255=) c.1620A>T (p.Thr540=) c.1434A>T (p.Thr478=) c.1353A>T (p.Thr451=) c.1059A>T (p.Thr353=) c.1440A>T (p.Thr480=) | dbSNP ExAC |
2 | g.48688102T>C | CA426124976 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1695A>G (p.Thr565=) c.*7A>G (n.*7A>G) c.3441+16422T>C (n.3441+16422T>C) c.*439A>G (n.*439A>G) c.1614A>G (p.Thr538=) c.276+16422T>C (n.276+16422T>C) c.*220+6122A>G (n.*220+6122A>G) c.738A>G (p.Thr246=) c.765A>G (p.Thr255=) c.1620A>G (p.Thr540=) c.1434A>G (p.Thr478=) c.1353A>G (p.Thr451=) c.1059A>G (p.Thr353=) c.1440A>G (p.Thr480=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688102T>G | CA426124977 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1695A>C (p.Thr565=) c.*7A>C (n.*7A>C) c.3441+16422T>G (n.3441+16422T>G) c.*439A>C (n.*439A>C) c.1614A>C (p.Thr538=) c.276+16422T>G (n.276+16422T>G) c.*220+6122A>C (n.*220+6122A>C) c.738A>C (p.Thr246=) c.765A>C (p.Thr255=) c.1620A>C (p.Thr540=) c.1434A>C (p.Thr478=) c.1353A>C (p.Thr451=) c.1059A>C (p.Thr353=) c.1440A>C (p.Thr480=) | |
2 | g.48688102T= | CA1248600992 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1695A= (p.Thr565=) c.*7A= (n.*7A=) c.3441+16422T= (n.3441+16422T=) c.*439A= (n.*439A=) c.1614A= (p.Thr538=) c.276+16422T= (n.276+16422T=) c.*220+6122A= (n.*220+6122A=) c.738A= (p.Thr246=) c.765A= (p.Thr255=) c.1620A= (p.Thr540=) c.1434A= (p.Thr478=) c.1353A= (p.Thr451=) c.1059A= (p.Thr353=) c.1440A= (p.Thr480=) | |
2 | g.48688103G>A | CA346745173 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1694C>T (p.Thr565Ile) c.*6C>T (n.*6C>T) c.3441+16423G>A (n.3441+16423G>A) c.*438C>T (n.*438C>T) c.1613C>T (p.Thr538Ile) c.276+16423G>A (n.276+16423G>A) c.*220+6121C>T (n.*220+6121C>T) c.737C>T (p.Thr246Ile) c.764C>T (p.Thr255Ile) c.1619C>T (p.Thr540Ile) c.1433C>T (p.Thr478Ile) c.1352C>T (p.Thr451Ile) c.1058C>T (p.Thr353Ile) c.1439C>T (p.Thr480Ile) | |
2 | g.48688103G>C | CA346745177 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1694C>G (p.Thr565Arg) c.*6C>G (n.*6C>G) c.3441+16423G>C (n.3441+16423G>C) c.*438C>G (n.*438C>G) c.1613C>G (p.Thr538Arg) c.276+16423G>C (n.276+16423G>C) c.*220+6121C>G (n.*220+6121C>G) c.737C>G (p.Thr246Arg) c.764C>G (p.Thr255Arg) c.1619C>G (p.Thr540Arg) c.1433C>G (p.Thr478Arg) c.1352C>G (p.Thr451Arg) c.1058C>G (p.Thr353Arg) c.1439C>G (p.Thr480Arg) | gnomAD v4 |
2 | g.48688103G>T | CA346745178 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1694C>A (p.Thr565Lys) c.*6C>A (n.*6C>A) c.3441+16423G>T (n.3441+16423G>T) c.*438C>A (n.*438C>A) c.1613C>A (p.Thr538Lys) c.276+16423G>T (n.276+16423G>T) c.*220+6121C>A (n.*220+6121C>A) c.737C>A (p.Thr246Lys) c.764C>A (p.Thr255Lys) c.1619C>A (p.Thr540Lys) c.1433C>A (p.Thr478Lys) c.1352C>A (p.Thr451Lys) c.1058C>A (p.Thr353Lys) c.1439C>A (p.Thr480Lys) | gnomAD v4 |
2 | g.48688104T>A | CA346745179 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1693A>T (p.Thr565Ser) c.*5A>T (n.*5A>T) c.3441+16424T>A (n.3441+16424T>A) c.*437A>T (n.*437A>T) c.1612A>T (p.Thr538Ser) c.276+16424T>A (n.276+16424T>A) c.*220+6120A>T (n.*220+6120A>T) c.736A>T (p.Thr246Ser) c.763A>T (p.Thr255Ser) c.1618A>T (p.Thr540Ser) c.1432A>T (p.Thr478Ser) c.1351A>T (p.Thr451Ser) c.1057A>T (p.Thr353Ser) c.1438A>T (p.Thr480Ser) | |
2 | g.48688104T>C | CA346745180 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1693A>G (p.Thr565Ala) c.*5A>G (n.*5A>G) c.3441+16424T>C (n.3441+16424T>C) c.*437A>G (n.*437A>G) c.1612A>G (p.Thr538Ala) c.276+16424T>C (n.276+16424T>C) c.*220+6120A>G (n.*220+6120A>G) c.736A>G (p.Thr246Ala) c.763A>G (p.Thr255Ala) c.1618A>G (p.Thr540Ala) c.1432A>G (p.Thr478Ala) c.1351A>G (p.Thr451Ala) c.1057A>G (p.Thr353Ala) c.1438A>G (p.Thr480Ala) | |
2 | g.48688104T>G | CA346745182 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1693A>C (p.Thr565Pro) c.*5A>C (n.*5A>C) c.3441+16424T>G (n.3441+16424T>G) c.*437A>C (n.*437A>C) c.1612A>C (p.Thr538Pro) c.276+16424T>G (n.276+16424T>G) c.*220+6120A>C (n.*220+6120A>C) c.736A>C (p.Thr246Pro) c.763A>C (p.Thr255Pro) c.1618A>C (p.Thr540Pro) c.1432A>C (p.Thr478Pro) c.1351A>C (p.Thr451Pro) c.1057A>C (p.Thr353Pro) c.1438A>C (p.Thr480Pro) | |
2 | g.48688105A>C | CA346745188 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1692T>G (p.Asp564Glu) c.*4T>G (n.*4T>G) c.3441+16425A>C (n.3441+16425A>C) c.*436T>G (n.*436T>G) c.1611T>G (p.Asp537Glu) c.276+16425A>C (n.276+16425A>C) c.*220+6119T>G (n.*220+6119T>G) c.735T>G (p.Asp245Glu) c.762T>G (p.Asp254Glu) c.1617T>G (p.Asp539Glu) c.1431T>G (p.Asp477Glu) c.1350T>G (p.Asp450Glu) c.1056T>G (p.Asp352Glu) c.1437T>G (p.Asp479Glu) | |
2 | g.48688105A>G | CA426124981 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1692T>C (p.Asp564=) c.*4T>C (n.*4T>C) c.3441+16425A>G (n.3441+16425A>G) c.*436T>C (n.*436T>C) c.1611T>C (p.Asp537=) c.276+16425A>G (n.276+16425A>G) c.*220+6119T>C (n.*220+6119T>C) c.735T>C (p.Asp245=) c.762T>C (p.Asp254=) c.1617T>C (p.Asp539=) c.1431T>C (p.Asp477=) c.1350T>C (p.Asp450=) c.1056T>C (p.Asp352=) c.1437T>C (p.Asp479=) | gnomAD v4 |
2 | g.48688105A>T | CA346745185 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1692T>A (p.Asp564Glu) c.*4T>A (n.*4T>A) c.3441+16425A>T (n.3441+16425A>T) c.*436T>A (n.*436T>A) c.1611T>A (p.Asp537Glu) c.276+16425A>T (n.276+16425A>T) c.*220+6119T>A (n.*220+6119T>A) c.735T>A (p.Asp245Glu) c.762T>A (p.Asp254Glu) c.1617T>A (p.Asp539Glu) c.1431T>A (p.Asp477Glu) c.1350T>A (p.Asp450Glu) c.1056T>A (p.Asp352Glu) c.1437T>A (p.Asp479Glu) | |
2 | g.48688106T>A | CA346745190 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1691A>T (p.Asp564Val) c.*3A>T (n.*3A>T) c.3441+16426T>A (n.3441+16426T>A) c.*435A>T (n.*435A>T) c.1610A>T (p.Asp537Val) c.276+16426T>A (n.276+16426T>A) c.*220+6118A>T (n.*220+6118A>T) c.734A>T (p.Asp245Val) c.761A>T (p.Asp254Val) c.1616A>T (p.Asp539Val) c.1430A>T (p.Asp477Val) c.1349A>T (p.Asp450Val) c.1055A>T (p.Asp352Val) c.1436A>T (p.Asp479Val) | ClinVar dbSNP |
2 | g.48688106T>C | CA123935 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1691A>G (p.Asp564Gly) c.*3A>G (n.*3A>G) c.3441+16426T>C (n.3441+16426T>C) c.*435A>G (n.*435A>G) c.1610A>G (p.Asp537Gly) c.276+16426T>C (n.276+16426T>C) c.*220+6118A>G (n.*220+6118A>G) c.734A>G (p.Asp245Gly) c.761A>G (p.Asp254Gly) c.1616A>G (p.Asp539Gly) c.1430A>G (p.Asp477Gly) c.1349A>G (p.Asp450Gly) c.1055A>G (p.Asp352Gly) c.1436A>G (p.Asp479Gly) | ClinVar dbSNP |
2 | g.48688106T>G | CA346745191 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1691A>C (p.Asp564Ala) c.*3A>C (n.*3A>C) c.3441+16426T>G (n.3441+16426T>G) c.*435A>C (n.*435A>C) c.1610A>C (p.Asp537Ala) c.276+16426T>G (n.276+16426T>G) c.*220+6118A>C (n.*220+6118A>C) c.734A>C (p.Asp245Ala) c.761A>C (p.Asp254Ala) c.1616A>C (p.Asp539Ala) c.1430A>C (p.Asp477Ala) c.1349A>C (p.Asp450Ala) c.1055A>C (p.Asp352Ala) c.1436A>C (p.Asp479Ala) | |
2 | g.48688106T= | CA1248600993 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1691A= (p.Asp564=) c.*3A= (n.*3A=) c.3441+16426T= (n.3441+16426T=) c.*435A= (n.*435A=) c.1610A= (p.Asp537=) c.276+16426T= (n.276+16426T=) c.*220+6118A= (n.*220+6118A=) c.734A= (p.Asp245=) c.761A= (p.Asp254=) c.1616A= (p.Asp539=) c.1430A= (p.Asp477=) c.1349A= (p.Asp450=) c.1055A= (p.Asp352=) c.1436A= (p.Asp479=) | |
2 | g.48688107C>A | CA346745192 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1690G>T (p.Asp564Tyr) c.*2G>T (n.*2G>T) c.3441+16427C>A (n.3441+16427C>A) c.*434G>T (n.*434G>T) c.1609G>T (p.Asp537Tyr) c.276+16427C>A (n.276+16427C>A) c.*220+6117G>T (n.*220+6117G>T) c.733G>T (p.Asp245Tyr) c.760G>T (p.Asp254Tyr) c.1615G>T (p.Asp539Tyr) c.1429G>T (p.Asp477Tyr) c.1348G>T (p.Asp450Tyr) c.1054G>T (p.Asp352Tyr) c.1435G>T (p.Asp479Tyr) | |
2 | g.48688107C>G | CA346745194 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1690G>C (p.Asp564His) c.*2G>C (n.*2G>C) c.3441+16427C>G (n.3441+16427C>G) c.*434G>C (n.*434G>C) c.1609G>C (p.Asp537His) c.276+16427C>G (n.276+16427C>G) c.*220+6117G>C (n.*220+6117G>C) c.733G>C (p.Asp245His) c.760G>C (p.Asp254His) c.1615G>C (p.Asp539His) c.1429G>C (p.Asp477His) c.1348G>C (p.Asp450His) c.1054G>C (p.Asp352His) c.1435G>C (p.Asp479His) | gnomAD v4 |
2 | g.48688107C>T | CA346745198 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1690G>A (p.Asp564Asn) c.*2G>A (n.*2G>A) c.3441+16427C>T (n.3441+16427C>T) c.*434G>A (n.*434G>A) c.1609G>A (p.Asp537Asn) c.276+16427C>T (n.276+16427C>T) c.*220+6117G>A (n.*220+6117G>A) c.733G>A (p.Asp245Asn) c.760G>A (p.Asp254Asn) c.1615G>A (p.Asp539Asn) c.1429G>A (p.Asp477Asn) c.1348G>A (p.Asp450Asn) c.1054G>A (p.Asp352Asn) c.1435G>A (p.Asp479Asn) | gnomAD v4 |
2 | g.48688108T>A | CA346745205 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1689A>T (p.Lys563Asn) c.*1A>T (n.*1A>T) c.3441+16428T>A (n.3441+16428T>A) c.*433A>T (n.*433A>T) c.1608A>T (p.Lys536Asn) c.276+16428T>A (n.276+16428T>A) c.*220+6116A>T (n.*220+6116A>T) c.732A>T (p.Lys244Asn) c.759A>T (p.Lys253Asn) c.1614A>T (p.Lys538Asn) c.1428A>T (p.Lys476Asn) c.1347A>T (p.Lys449Asn) c.1053A>T (p.Lys351Asn) c.1434A>T (p.Lys478Asn) | |
2 | g.48688108T>C | CA1653002 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1689A>G (p.Lys563=) c.*1A>G (n.*1A>G) c.3441+16428T>C (n.3441+16428T>C) c.*433A>G (n.*433A>G) c.1608A>G (p.Lys536=) c.276+16428T>C (n.276+16428T>C) c.*220+6116A>G (n.*220+6116A>G) c.732A>G (p.Lys244=) c.759A>G (p.Lys253=) c.1614A>G (p.Lys538=) c.1428A>G (p.Lys476=) c.1347A>G (p.Lys449=) c.1053A>G (p.Lys351=) c.1434A>G (p.Lys478=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688108T>G | CA346745201 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1689A>C (p.Lys563Asn) c.*1A>C (n.*1A>C) c.3441+16428T>G (n.3441+16428T>G) c.*433A>C (n.*433A>C) c.1608A>C (p.Lys536Asn) c.276+16428T>G (n.276+16428T>G) c.*220+6116A>C (n.*220+6116A>C) c.732A>C (p.Lys244Asn) c.759A>C (p.Lys253Asn) c.1614A>C (p.Lys538Asn) c.1428A>C (p.Lys476Asn) c.1347A>C (p.Lys449Asn) c.1053A>C (p.Lys351Asn) c.1434A>C (p.Lys478Asn) | |
2 | g.48688108T= | CA1248600994 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1689A= (p.Lys563=) c.*1A= (n.*1A=) c.3441+16428T= (n.3441+16428T=) c.*433A= (n.*433A=) c.1608A= (p.Lys536=) c.276+16428T= (n.276+16428T=) c.*220+6116A= (n.*220+6116A=) c.732A= (p.Lys244=) c.759A= (p.Lys253=) c.1614A= (p.Lys538=) c.1428A= (p.Lys476=) c.1347A= (p.Lys449=) c.1053A= (p.Lys351=) c.1434A= (p.Lys478=) | |
2 | g.48688109_48688110del | CA2658992082 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1688_1689del (p.Lys563ArgfsTer6) c.978_*1del (n.[c.978_*1del;Ter326=]) c.3441+16429_3441+16430del (n.3441+16429_3441+16430del) c.*432_*433del (n.*432_*433del) c.1607_1608del (p.Lys536ArgfsTer6) c.276+16429_276+16430del (n.276+16429_276+16430del) c.*220+6115_*220+6116del (n.*220+6115_*220+6116del) c.731_732del (p.Lys244ArgfsTer6) c.758_759del (p.Lys253ArgfsTer6) c.1613_1614del (p.Lys538ArgfsTer6) c.1427_1428del (p.Lys476ArgfsTer6) c.1346_1347del (p.Lys449ArgfsTer6) c.1052_1053del (p.Lys351ArgfsTer6) c.1433_1434del (p.Lys478ArgfsTer6) | gnomAD v4 |
2 | g.48688109T>A | CA346745208 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1688A>T (p.Lys563Ile) c.978A>T (p.Ter326Tyr) c.3441+16429T>A (n.3441+16429T>A) c.*432A>T (n.*432A>T) c.1607A>T (p.Lys536Ile) c.276+16429T>A (n.276+16429T>A) c.*220+6115A>T (n.*220+6115A>T) c.731A>T (p.Lys244Ile) c.758A>T (p.Lys253Ile) c.1613A>T (p.Lys538Ile) c.1427A>T (p.Lys476Ile) c.1346A>T (p.Lys449Ile) c.1052A>T (p.Lys351Ile) c.1433A>T (p.Lys478Ile) | |
2 | g.48688109T>C | CA346745212 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1688A>G (p.Lys563Arg) c.978A>G (p.Ter326=) c.3441+16429T>C (n.3441+16429T>C) c.*432A>G (n.*432A>G) c.1607A>G (p.Lys536Arg) c.276+16429T>C (n.276+16429T>C) c.*220+6115A>G (n.*220+6115A>G) c.731A>G (p.Lys244Arg) c.758A>G (p.Lys253Arg) c.1613A>G (p.Lys538Arg) c.1427A>G (p.Lys476Arg) c.1346A>G (p.Lys449Arg) c.1052A>G (p.Lys351Arg) c.1433A>G (p.Lys478Arg) | |
2 | g.48688109T>G | CA346745214 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1688A>C (p.Lys563Thr) c.978A>C (p.Ter326Tyr) c.3441+16429T>G (n.3441+16429T>G) c.*432A>C (n.*432A>C) c.1607A>C (p.Lys536Thr) c.276+16429T>G (n.276+16429T>G) c.*220+6115A>C (n.*220+6115A>C) c.731A>C (p.Lys244Thr) c.758A>C (p.Lys253Thr) c.1613A>C (p.Lys538Thr) c.1427A>C (p.Lys476Thr) c.1346A>C (p.Lys449Thr) c.1052A>C (p.Lys351Thr) c.1433A>C (p.Lys478Thr) | |
2 | g.48688110T>A | CA346745223 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1687A>T (p.Lys563Ter) c.977A>T (p.Ter326Leu) c.3441+16430T>A (n.3441+16430T>A) c.*431A>T (n.*431A>T) c.1606A>T (p.Lys536Ter) c.276+16430T>A (n.276+16430T>A) c.*220+6114A>T (n.*220+6114A>T) c.730A>T (p.Lys244Ter) c.757A>T (p.Lys253Ter) c.1612A>T (p.Lys538Ter) c.1426A>T (p.Lys476Ter) c.1345A>T (p.Lys449Ter) c.1051A>T (p.Lys351Ter) c.1432A>T (p.Lys478Ter) | |
2 | g.48688110T>C | CA346745232 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1687A>G (p.Lys563Glu) c.977A>G (p.Ter326=) c.3441+16430T>C (n.3441+16430T>C) c.*431A>G (n.*431A>G) c.1606A>G (p.Lys536Glu) c.276+16430T>C (n.276+16430T>C) c.*220+6114A>G (n.*220+6114A>G) c.730A>G (p.Lys244Glu) c.757A>G (p.Lys253Glu) c.1612A>G (p.Lys538Glu) c.1426A>G (p.Lys476Glu) c.1345A>G (p.Lys449Glu) c.1051A>G (p.Lys351Glu) c.1432A>G (p.Lys478Glu) | |
2 | g.48688110T>G | CA346745234 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1687A>C (p.Lys563Gln) c.977A>C (p.Ter326Ser) c.3441+16430T>G (n.3441+16430T>G) c.*431A>C (n.*431A>C) c.1606A>C (p.Lys536Gln) c.276+16430T>G (n.276+16430T>G) c.*220+6114A>C (n.*220+6114A>C) c.730A>C (p.Lys244Gln) c.757A>C (p.Lys253Gln) c.1612A>C (p.Lys538Gln) c.1426A>C (p.Lys476Gln) c.1345A>C (p.Lys449Gln) c.1051A>C (p.Lys351Gln) c.1432A>C (p.Lys478Gln) | |
2 | g.48688111A>C | CA346745241 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1686T>G (p.Asn562Lys) c.976T>G (p.Ter326Glu) c.3441+16431A>C (n.3441+16431A>C) c.*430T>G (n.*430T>G) c.1605T>G (p.Asn535Lys) c.276+16431A>C (n.276+16431A>C) c.*220+6113T>G (n.*220+6113T>G) c.729T>G (p.Asn243Lys) c.756T>G (p.Asn252Lys) c.1611T>G (p.Asn537Lys) c.1425T>G (p.Asn475Lys) c.1344T>G (p.Asn448Lys) c.1050T>G (p.Asn350Lys) c.1431T>G (p.Asn477Lys) | |
2 | g.48688111A>G | CA346745251 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1686T>C (p.Asn562=) c.976T>C (p.Ter326Gln) c.3441+16431A>G (n.3441+16431A>G) c.*430T>C (n.*430T>C) c.1605T>C (p.Asn535=) c.276+16431A>G (n.276+16431A>G) c.*220+6113T>C (n.*220+6113T>C) c.729T>C (p.Asn243=) c.756T>C (p.Asn252=) c.1611T>C (p.Asn537=) c.1425T>C (p.Asn475=) c.1344T>C (p.Asn448=) c.1050T>C (p.Asn350=) c.1431T>C (p.Asn477=) | |
2 | g.48688111A>T | CA346745247 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1686T>A (p.Asn562Lys) c.976T>A (p.Ter326Lys) c.3441+16431A>T (n.3441+16431A>T) c.*430T>A (n.*430T>A) c.1605T>A (p.Asn535Lys) c.276+16431A>T (n.276+16431A>T) c.*220+6113T>A (n.*220+6113T>A) c.729T>A (p.Asn243Lys) c.756T>A (p.Asn252Lys) c.1611T>A (p.Asn537Lys) c.1425T>A (p.Asn475Lys) c.1344T>A (p.Asn448Lys) c.1050T>A (p.Asn350Lys) c.1431T>A (p.Asn477Lys) | |
2 | g.48688112T>A | CA346745252 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1685A>T (p.Asn562Ile) c.975A>T (p.Gln325His) c.3441+16432T>A (n.3441+16432T>A) c.*429A>T (n.*429A>T) c.1604A>T (p.Asn535Ile) c.276+16432T>A (n.276+16432T>A) c.*220+6112A>T (n.*220+6112A>T) c.728A>T (p.Asn243Ile) c.755A>T (p.Asn252Ile) c.1610A>T (p.Asn537Ile) c.1424A>T (p.Asn475Ile) c.1343A>T (p.Asn448Ile) c.1049A>T (p.Asn350Ile) c.1430A>T (p.Asn477Ile) | |
2 | g.48688112T>C | CA346745253 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1685A>G (p.Asn562Ser) c.975A>G (p.Gln325=) c.3441+16432T>C (n.3441+16432T>C) c.*429A>G (n.*429A>G) c.1604A>G (p.Asn535Ser) c.276+16432T>C (n.276+16432T>C) c.*220+6112A>G (n.*220+6112A>G) c.728A>G (p.Asn243Ser) c.755A>G (p.Asn252Ser) c.1610A>G (p.Asn537Ser) c.1424A>G (p.Asn475Ser) c.1343A>G (p.Asn448Ser) c.1049A>G (p.Asn350Ser) c.1430A>G (p.Asn477Ser) | |
2 | g.48688112T>G | CA346745254 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1685A>C (p.Asn562Thr) c.975A>C (p.Gln325His) c.3441+16432T>G (n.3441+16432T>G) c.*429A>C (n.*429A>C) c.1604A>C (p.Asn535Thr) c.276+16432T>G (n.276+16432T>G) c.*220+6112A>C (n.*220+6112A>C) c.728A>C (p.Asn243Thr) c.755A>C (p.Asn252Thr) c.1610A>C (p.Asn537Thr) c.1424A>C (p.Asn475Thr) c.1343A>C (p.Asn448Thr) c.1049A>C (p.Asn350Thr) c.1430A>C (p.Asn477Thr) | |
2 | g.48688113T>A | CA346745258 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1684A>T (p.Asn562Tyr) c.974A>T (p.Gln325Leu) c.3441+16433T>A (n.3441+16433T>A) c.*428A>T (n.*428A>T) c.1603A>T (p.Asn535Tyr) c.276+16433T>A (n.276+16433T>A) c.*220+6111A>T (n.*220+6111A>T) c.727A>T (p.Asn243Tyr) c.754A>T (p.Asn252Tyr) c.1609A>T (p.Asn537Tyr) c.1423A>T (p.Asn475Tyr) c.1342A>T (p.Asn448Tyr) c.1048A>T (p.Asn350Tyr) c.1429A>T (p.Asn477Tyr) | |
2 | g.48688113T>C | CA346745259 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1684A>G (p.Asn562Asp) c.974A>G (p.Gln325Arg) c.3441+16433T>C (n.3441+16433T>C) c.*428A>G (n.*428A>G) c.1603A>G (p.Asn535Asp) c.276+16433T>C (n.276+16433T>C) c.*220+6111A>G (n.*220+6111A>G) c.727A>G (p.Asn243Asp) c.754A>G (p.Asn252Asp) c.1609A>G (p.Asn537Asp) c.1423A>G (p.Asn475Asp) c.1342A>G (p.Asn448Asp) c.1048A>G (p.Asn350Asp) c.1429A>G (p.Asn477Asp) | |
2 | g.48688113T>G | CA346745260 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1684A>C (p.Asn562His) c.974A>C (p.Gln325Pro) c.3441+16433T>G (n.3441+16433T>G) c.*428A>C (n.*428A>C) c.1603A>C (p.Asn535His) c.276+16433T>G (n.276+16433T>G) c.*220+6111A>C (n.*220+6111A>C) c.727A>C (p.Asn243His) c.754A>C (p.Asn252His) c.1609A>C (p.Asn537His) c.1423A>C (p.Asn475His) c.1342A>C (p.Asn448His) c.1048A>C (p.Asn350His) c.1429A>C (p.Asn477His) | |
2 | g.48688114G>A | CA346745263 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1683C>T (p.Thr561=) c.973C>T (p.Gln325Ter) c.3441+16434G>A (n.3441+16434G>A) c.*427C>T (n.*427C>T) c.1602C>T (p.Thr534=) c.276+16434G>A (n.276+16434G>A) c.*220+6110C>T (n.*220+6110C>T) c.726C>T (p.Thr242=) c.753C>T (p.Thr251=) c.1608C>T (p.Thr536=) c.1422C>T (p.Thr474=) c.1341C>T (p.Thr447=) c.1047C>T (p.Thr349=) c.1428C>T (p.Thr476=) | |
2 | g.48688114G>C | CA346745264 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1683C>G (p.Thr561=) c.973C>G (p.Gln325Glu) c.3441+16434G>C (n.3441+16434G>C) c.*427C>G (n.*427C>G) c.1602C>G (p.Thr534=) c.276+16434G>C (n.276+16434G>C) c.*220+6110C>G (n.*220+6110C>G) c.726C>G (p.Thr242=) c.753C>G (p.Thr251=) c.1608C>G (p.Thr536=) c.1422C>G (p.Thr474=) c.1341C>G (p.Thr447=) c.1047C>G (p.Thr349=) c.1428C>G (p.Thr476=) | |
2 | g.48688114G>T | CA346745265 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1683C>A (p.Thr561=) c.973C>A (p.Gln325Lys) c.3441+16434G>T (n.3441+16434G>T) c.*427C>A (n.*427C>A) c.1602C>A (p.Thr534=) c.276+16434G>T (n.276+16434G>T) c.*220+6110C>A (n.*220+6110C>A) c.726C>A (p.Thr242=) c.753C>A (p.Thr251=) c.1608C>A (p.Thr536=) c.1422C>A (p.Thr474=) c.1341C>A (p.Thr447=) c.1047C>A (p.Thr349=) c.1428C>A (p.Thr476=) | gnomAD v4 |
2 | g.48688115G>A | CA346745266 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1682C>T (p.Thr561Ile) c.972C>T (p.Tyr324=) c.3441+16435G>A (n.3441+16435G>A) c.*426C>T (n.*426C>T) c.1601C>T (p.Thr534Ile) c.276+16435G>A (n.276+16435G>A) c.*220+6109C>T (n.*220+6109C>T) c.725C>T (p.Thr242Ile) c.752C>T (p.Thr251Ile) c.1607C>T (p.Thr536Ile) c.1421C>T (p.Thr474Ile) c.1340C>T (p.Thr447Ile) c.1046C>T (p.Thr349Ile) c.1427C>T (p.Thr476Ile) | gnomAD v4 |
2 | g.48688115G>C | CA346745267 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1682C>G (p.Thr561Ser) c.972C>G (p.Tyr324Ter) c.3441+16435G>C (n.3441+16435G>C) c.*426C>G (n.*426C>G) c.1601C>G (p.Thr534Ser) c.276+16435G>C (n.276+16435G>C) c.*220+6109C>G (n.*220+6109C>G) c.725C>G (p.Thr242Ser) c.752C>G (p.Thr251Ser) c.1607C>G (p.Thr536Ser) c.1421C>G (p.Thr474Ser) c.1340C>G (p.Thr447Ser) c.1046C>G (p.Thr349Ser) c.1427C>G (p.Thr476Ser) | |
2 | g.48688115G= | CA1248600995 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1682C= (p.Thr561=) c.972C= (p.Tyr324=) c.3441+16435G= (n.3441+16435G=) c.*426C= (n.*426C=) c.1601C= (p.Thr534=) c.276+16435G= (n.276+16435G=) c.*220+6109C= (n.*220+6109C=) c.725C= (p.Thr242=) c.752C= (p.Thr251=) c.1607C= (p.Thr536=) c.1421C= (p.Thr474=) c.1340C= (p.Thr447=) c.1046C= (p.Thr349=) c.1427C= (p.Thr476=) | |
2 | g.48688115G>T | CA346745268 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1682C>A (p.Thr561Asn) c.972C>A (p.Tyr324Ter) c.3441+16435G>T (n.3441+16435G>T) c.*426C>A (n.*426C>A) c.1601C>A (p.Thr534Asn) c.276+16435G>T (n.276+16435G>T) c.*220+6109C>A (n.*220+6109C>A) c.725C>A (p.Thr242Asn) c.752C>A (p.Thr251Asn) c.1607C>A (p.Thr536Asn) c.1421C>A (p.Thr474Asn) c.1340C>A (p.Thr447Asn) c.1046C>A (p.Thr349Asn) c.1427C>A (p.Thr476Asn) | dbSNP |
2 | g.48688115_48688116insCGGC | CA2749836831 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1681_1682insGCCG (p.Thr561SerfsTer4) c.971_972insGCCG (p.Tyr324Ter) c.3441+16435_3441+16436insCGGC (n.3441+16435_3441+16436insCGGC) c.*425_*426insGCCG (n.*425_*426insGCCG) c.1600_1601insGCCG (p.Thr534SerfsTer4) c.276+16435_276+16436insCGGC (n.276+16435_276+16436insCGGC) c.*220+6108_*220+6109insGCCG (n.*220+6108_*220+6109insGCCG) c.724_725insGCCG (p.Thr242SerfsTer4) c.751_752insGCCG (p.Thr251SerfsTer4) c.1606_1607insGCCG (p.Thr536SerfsTer4) c.1420_1421insGCCG (p.Thr474SerfsTer4) c.1339_1340insGCCG (p.Thr447SerfsTer4) c.1045_1046insGCCG (p.Thr349SerfsTer4) c.1426_1427insGCCG (p.Thr476SerfsTer4) | |
2 | g.48688116T>A | CA346745274 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1681A>T (p.Thr561Ser) c.971A>T (p.Tyr324Phe) c.3441+16436T>A (n.3441+16436T>A) c.*425A>T (n.*425A>T) c.1600A>T (p.Thr534Ser) c.276+16436T>A (n.276+16436T>A) c.*220+6108A>T (n.*220+6108A>T) c.724A>T (p.Thr242Ser) c.751A>T (p.Thr251Ser) c.1606A>T (p.Thr536Ser) c.1420A>T (p.Thr474Ser) c.1339A>T (p.Thr447Ser) c.1045A>T (p.Thr349Ser) c.1426A>T (p.Thr476Ser) | gnomAD v4 |
2 | g.48688116T>C | CA346745284 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1681A>G (p.Thr561Ala) c.971A>G (p.Tyr324Cys) c.3441+16436T>C (n.3441+16436T>C) c.*425A>G (n.*425A>G) c.1600A>G (p.Thr534Ala) c.276+16436T>C (n.276+16436T>C) c.*220+6108A>G (n.*220+6108A>G) c.724A>G (p.Thr242Ala) c.751A>G (p.Thr251Ala) c.1606A>G (p.Thr536Ala) c.1420A>G (p.Thr474Ala) c.1339A>G (p.Thr447Ala) c.1045A>G (p.Thr349Ala) c.1426A>G (p.Thr476Ala) | dbSNP gnomAD v4 |
2 | g.48688116T>G | CA346745280 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1681A>C (p.Thr561Pro) c.971A>C (p.Tyr324Ser) c.3441+16436T>G (n.3441+16436T>G) c.*425A>C (n.*425A>C) c.1600A>C (p.Thr534Pro) c.276+16436T>G (n.276+16436T>G) c.*220+6108A>C (n.*220+6108A>C) c.724A>C (p.Thr242Pro) c.751A>C (p.Thr251Pro) c.1606A>C (p.Thr536Pro) c.1420A>C (p.Thr474Pro) c.1339A>C (p.Thr447Pro) c.1045A>C (p.Thr349Pro) c.1426A>C (p.Thr476Pro) | |
2 | g.48688116T= | CA1248600996 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1681A= (p.Thr561=) c.971A= (p.Tyr324=) c.3441+16436T= (n.3441+16436T=) c.*425A= (n.*425A=) c.1600A= (p.Thr534=) c.276+16436T= (n.276+16436T=) c.*220+6108A= (n.*220+6108A=) c.724A= (p.Thr242=) c.751A= (p.Thr251=) c.1606A= (p.Thr536=) c.1420A= (p.Thr474=) c.1339A= (p.Thr447=) c.1045A= (p.Thr349=) c.1426A= (p.Thr476=) | |
2 | g.48688117A>C | CA346745285 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1680T>G (p.Ala560=) c.970T>G (p.Tyr324Asp) c.3441+16437A>C (n.3441+16437A>C) c.*424T>G (n.*424T>G) c.1599T>G (p.Ala533=) c.276+16437A>C (n.276+16437A>C) c.*220+6107T>G (n.*220+6107T>G) c.723T>G (p.Ala241=) c.750T>G (p.Ala250=) c.1605T>G (p.Ala535=) c.1419T>G (p.Ala473=) c.1338T>G (p.Ala446=) c.1044T>G (p.Ala348=) c.1425T>G (p.Ala475=) | |
2 | g.48688117A>G | CA346745297 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1680T>C (p.Ala560=) c.970T>C (p.Tyr324His) c.3441+16437A>G (n.3441+16437A>G) c.*424T>C (n.*424T>C) c.1599T>C (p.Ala533=) c.276+16437A>G (n.276+16437A>G) c.*220+6107T>C (n.*220+6107T>C) c.723T>C (p.Ala241=) c.750T>C (p.Ala250=) c.1605T>C (p.Ala535=) c.1419T>C (p.Ala473=) c.1338T>C (p.Ala446=) c.1044T>C (p.Ala348=) c.1425T>C (p.Ala475=) | |
2 | g.48688117A>T | CA346745299 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1680T>A (p.Ala560=) c.970T>A (p.Tyr324Asn) c.3441+16437A>T (n.3441+16437A>T) c.*424T>A (n.*424T>A) c.1599T>A (p.Ala533=) c.276+16437A>T (n.276+16437A>T) c.*220+6107T>A (n.*220+6107T>A) c.723T>A (p.Ala241=) c.750T>A (p.Ala250=) c.1605T>A (p.Ala535=) c.1419T>A (p.Ala473=) c.1338T>A (p.Ala446=) c.1044T>A (p.Ala348=) c.1425T>A (p.Ala475=) | |
2 | g.48688117_48688118insCCA | CA2749836832 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1680_1681insGGT (p.Ala560_Thr561insGly) c.970_971insGGT (p.Gly323_Tyr324insTrp) c.3441+16437_3441+16438insCCA (n.3441+16437_3441+16438insCCA) c.*424_*425insGGT (n.*424_*425insGGT) c.1599_1600insGGT (p.Ala533_Thr534insGly) c.276+16437_276+16438insCCA (n.276+16437_276+16438insCCA) c.*220+6107_*220+6108insGGT (n.*220+6107_*220+6108insGGT) c.723_724insGGT (p.Ala241_Thr242insGly) c.750_751insGGT (p.Ala250_Thr251insGly) c.1605_1606insGGT (p.Ala535_Thr536insGly) c.1419_1420insGGT (p.Ala473_Thr474insGly) c.1338_1339insGGT (p.Ala446_Thr447insGly) c.1044_1045insGGT (p.Ala348_Thr349insGly) c.1425_1426insGGT (p.Ala475_Thr476insGly) | |
2 | g.48688118G>A | CA346745300 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1679C>T (p.Ala560Val) c.969C>T (p.Gly323=) c.3441+16438G>A (n.3441+16438G>A) c.*423C>T (n.*423C>T) c.1598C>T (p.Ala533Val) c.276+16438G>A (n.276+16438G>A) c.*220+6106C>T (n.*220+6106C>T) c.722C>T (p.Ala241Val) c.749C>T (p.Ala250Val) c.1604C>T (p.Ala535Val) c.1418C>T (p.Ala473Val) c.1337C>T (p.Ala446Val) c.1043C>T (p.Ala348Val) c.1424C>T (p.Ala475Val) | |
2 | g.48688118G>C | CA346745301 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1679C>G (p.Ala560Gly) c.969C>G (p.Gly323=) c.3441+16438G>C (n.3441+16438G>C) c.*423C>G (n.*423C>G) c.1598C>G (p.Ala533Gly) c.276+16438G>C (n.276+16438G>C) c.*220+6106C>G (n.*220+6106C>G) c.722C>G (p.Ala241Gly) c.749C>G (p.Ala250Gly) c.1604C>G (p.Ala535Gly) c.1418C>G (p.Ala473Gly) c.1337C>G (p.Ala446Gly) c.1043C>G (p.Ala348Gly) c.1424C>G (p.Ala475Gly) | |
2 | g.48688118G>T | CA346745303 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1679C>A (p.Ala560Asp) c.969C>A (p.Gly323=) c.3441+16438G>T (n.3441+16438G>T) c.*423C>A (n.*423C>A) c.1598C>A (p.Ala533Asp) c.276+16438G>T (n.276+16438G>T) c.*220+6106C>A (n.*220+6106C>A) c.722C>A (p.Ala241Asp) c.749C>A (p.Ala250Asp) c.1604C>A (p.Ala535Asp) c.1418C>A (p.Ala473Asp) c.1337C>A (p.Ala446Asp) c.1043C>A (p.Ala348Asp) c.1424C>A (p.Ala475Asp) | |
2 | g.48688119C>A | CA346745308 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1678G>T (p.Ala560Ser) c.968G>T (p.Gly323Val) c.3441+16439C>A (n.3441+16439C>A) c.*422G>T (n.*422G>T) c.1597G>T (p.Ala533Ser) c.276+16439C>A (n.276+16439C>A) c.*220+6105G>T (n.*220+6105G>T) c.721G>T (p.Ala241Ser) c.748G>T (p.Ala250Ser) c.1603G>T (p.Ala535Ser) c.1417G>T (p.Ala473Ser) c.1336G>T (p.Ala446Ser) c.1042G>T (p.Ala348Ser) c.1423G>T (p.Ala475Ser) | gnomAD v4 |
2 | g.48688119C= | CA1248600997 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1678G= (p.Ala560=) c.968G= (p.Gly323=) c.3441+16439C= (n.3441+16439C=) c.*422G= (n.*422G=) c.1597G= (p.Ala533=) c.276+16439C= (n.276+16439C=) c.*220+6105G= (n.*220+6105G=) c.721G= (p.Ala241=) c.748G= (p.Ala250=) c.1603G= (p.Ala535=) c.1417G= (p.Ala473=) c.1336G= (p.Ala446=) c.1042G= (p.Ala348=) c.1423G= (p.Ala475=) | |
2 | g.48688119C>G | CA1653003 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1678G>C (p.Ala560Pro) c.968G>C (p.Gly323Ala) c.3441+16439C>G (n.3441+16439C>G) c.*422G>C (n.*422G>C) c.1597G>C (p.Ala533Pro) c.276+16439C>G (n.276+16439C>G) c.*220+6105G>C (n.*220+6105G>C) c.721G>C (p.Ala241Pro) c.748G>C (p.Ala250Pro) c.1603G>C (p.Ala535Pro) c.1417G>C (p.Ala473Pro) c.1336G>C (p.Ala446Pro) c.1042G>C (p.Ala348Pro) c.1423G>C (p.Ala475Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688119C>T | CA346745320 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1678G>A (p.Ala560Thr) c.968G>A (p.Gly323Asp) c.3441+16439C>T (n.3441+16439C>T) c.*422G>A (n.*422G>A) c.1597G>A (p.Ala533Thr) c.276+16439C>T (n.276+16439C>T) c.*220+6105G>A (n.*220+6105G>A) c.721G>A (p.Ala241Thr) c.748G>A (p.Ala250Thr) c.1603G>A (p.Ala535Thr) c.1417G>A (p.Ala473Thr) c.1336G>A (p.Ala446Thr) c.1042G>A (p.Ala348Thr) c.1423G>A (p.Ala475Thr) |